Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
MS4A15	219995	broad.mit.edu	37	11	60531345	60531346	+	Frame_Shift_Ins	INS	-	-	G	rs1032939	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60531345_60531346insG	ENST00000405633.3	+	2	218_219	c.139_140insG	c.(139-141)ctgfs	p.L47fs	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.L47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15			6					GGAGCCACCGCTGGGGGCACAG	0.604000																								0							SO:0001589	frameshift_variant			ENST00000405633.3	0	1	hg19	CCDS44617.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1	1	0	0	71	441	0	88			0	0	0	88		0	0	0	0	0	0		1	1	74	434	0	88	2								-2.222034	0	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FBXO15	201456	broad.mit.edu	37	18	71749238	71749238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71749238delT	ENST00000419743.2	-	9	1266	c.1187delA	c.(1186-1188)aatfs	p.N397fs	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Frame_Shift_Del_p.N321fs	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15			27		Esophageal squamous(42;0.103)|Prostate(75;0.173)			TTCTCTGTTATTTTTTAAATG	0.328000																								0							SO:0001589	frameshift_variant			ENST00000419743.2	1	0	hg19	CCDS45884.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	1	0	0	29	178	0	46	0	5.714091e-02	0	3	0	46	2	0	0	0	0	0	0		1	4.841929e-01	40	173	4	46	31								-14.600000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999678	0.990000	1	9.900000e-01	1
PDE4D	5144	broad.mit.edu	37	5	58270553	58270554	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58270553_58270554insA	ENST00000340635.6	-	15	2542_2543	c.2367_2368insT	c.(2365-2370)gtagggfs	p.G790fs	PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.G499fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.G668fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.G726fs|PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.G654fs|PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.G488fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.G660fs|PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.G729fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific			15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCTTCTTCCCCTACTGCCTCCT	0.436000																								0							SO:0001589	frameshift_variant			ENST00000340635.6	0	1	hg19	CCDS47213.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3	1	0	0	219	1304	0	254	1	9.340059e-01	2	27	0	254	2	0	0	0	0	0	0		1	1	213	1275	0	250	2								-2.774725	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL22A1	169044	broad.mit.edu	37	8	139635983	139635984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139635983_139635984insA	ENST00000303045.6	-	52	4208_4209	c.3762_3763insT	c.(3760-3765)cctggafs	p.G1255fs	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.G1235fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1			211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)		ACCGGCTCTCCAGGGGGACCCG	0.436000										HNSCC(7;0.00092)														0							SO:0001589	frameshift_variant			ENST00000303045.6	0	1	hg19	CCDS6376.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	1	0	0	217	1543	0	289	0	4.227315e-02	0	3	0	289	2	0	0	0	0	0	0		1	1	216	1518	0	287	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	145001678	145001678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145001678delA	ENST00000322810.4	-	27	4236	c.4067delT	c.(4066-4068)ttgfs	p.L1356fs	PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					CCAGGCGCCCAAGGGGTCTGC	0.721000																								0							SO:0001589	frameshift_variant			ENST00000322810.4	0	1	hg19	CCDS43772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0	30	190	0	20	0	3.100901e-01	1	7	0	20	2	0	0	0	0	0	0		1	1	30	184	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999518	0.990000	1	9.900000e-01	1
FAM120A	23196	broad.mit.edu	37	9	96318839	96318839	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96318839delA	ENST00000277165.6	+	13	2644	c.2450delA	c.(2449-2451)gaafs	p.E817fs	FAM120A_ENST00000333936.5_Frame_Shift_Del_p.E845fs|FAM120A_ENST00000340893.4_Frame_Shift_Del_p.E817fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A			34					GCCAGCCGGGAAAAGACCCCA	0.502000																								0							SO:0001589	frameshift_variant			ENST00000277165.6	1	0	hg19	CCDS6706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	1	0	0	128	1033	0	222	1	1	2	361	0	222	2	0	0	0	0	0	0		1	9.999999e-01	179	1016	8	215	64								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999883	0.990000	1	9.900000e-01	1
LOXL4	84171	broad.mit.edu	37	10	100015438	100015438	+	Missense_Mutation	SNP	C	C	T	rs139275517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100015438C>T	ENST00000260702.3	-	10	1637	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4			26		Colorectal(252;0.234)			GCCTGAGCAGCGCACCCCACT	0.662000																								0							SO:0001583	missense			ENST00000260702.3	1	1	hg19	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023928	0.54683	0.0	1.16E-4	ENSG00000138131	ENST00000260702	T	0.36699	1.24	5.25	2.36	0.29203	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.191629	0.56097	N	0.000024	T	0.24928	0.0605	L	0.35487	1.065	0.38850	D	0.956265	B	0.12630	0.006	B	0.14023	0.01	T	0.07252	-1.0782	10	0.27785	T	0.31	.	9.7114	0.40247	0.0:0.7701:0.0:0.2299	.	496	Q96JB6	LOXL4_HUMAN	H	496	ENSP00000260702:R496H	ENSP00000260702:R496H	R	-	2	0	LOXL4	100005428	0.938000	0.31826	0.998000	0.56505	0.994000	0.84299	0.146000	0.16180	0.211000	0.20683	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	1	0	0	36	418	0	99	0	3.745022e-01	0	16	0	99	2		0	0	0	0	0	2	1	1	36	414	0	98	2								-10.110690	1	1	121410	4	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.950000	0.670000	1.000000	1.000000	0.919979	0.950000	1	8.000000e-01	1
LOXL4	84171	broad.mit.edu	37	10	100021971	100021971	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100021971C>A	ENST00000260702.3	-	3	428		c.e3-1			NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4			26		Colorectal(252;0.234)			CAGATGGGTCCTGTGGAGTGG	0.572000																								0							SO:0001630	splice_region_variant			ENST00000260702.3	1	1	hg19	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203068	0.79127	.	.	ENSG00000138131	ENST00000260702	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6443	0.88145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LOXL4	100011961	1.000000	0.71417	0.932000	0.37286	0.868000	0.49771	7.598000	0.82745	2.157000	0.67596	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	1	0	1	39	154	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	38	150	0	50	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYROXD2	84795	broad.mit.edu	37	10	100152291	100152291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100152291G>A	ENST00000370575.4	-	10	1008	c.960C>T	c.(958-960)ggC>ggT	p.G320G	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2			12					CTTGAACACAGCCTTCACTGT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000370575.4	1	1	hg19	CCDS7474.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	0	0	1	61	346	0	93	0	2.279396e-01	0	6	0	93	2		0	0	0	0	0	2	1	1	60	334	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HPS1	3257	broad.mit.edu	37	10	100177447	100177447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100177447G>A	ENST00000325103.6	-	20	2210	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.T659T	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	p.T659T(1)		23		Colorectal(252;0.234)			TGACAGCCTCGGTTGGGCGGT	0.667000									Hermansky-Pudlak syndrome															1	Substitution - coding silent(1)						SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	ENST00000325103.6	1	1	hg19	CCDS7475.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	1	0	1	48	219	0	41	1	1	24	112	0	41	2		0	0	0	0	0	2	1	1	48	216	0	41	2								-3.329692	1	1	121406	9	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HPS1	3257	broad.mit.edu	37	10	100178003	100178003	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100178003G>A	ENST00000325103.6	-	19	2102	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.L623L	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1			23		Colorectal(252;0.234)			CGATCATCTGGAGTTTGTACC	0.637000									Hermansky-Pudlak syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	ENST00000325103.6	1	1	hg19	CCDS7475.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	1	0	0	16	382	0	69	1	9.658477e-01	4	132	0	69	2		0	0	0	0	0	2	1	9.999283e-01	16	376	0	69	2								-16.141030	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.490000	0.290000	1.000000	0.470000	0.538943	0.490000	0	3.800000e-01	6.700000e-01
HPSE2	60495	broad.mit.edu	37	10	100503711	100503711	+	Missense_Mutation	SNP	C	C	T	rs138827531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100503711C>T	ENST00000370552.3	-	4	772	c.713G>A	c.(712-714)aGt>aAt	p.S238N	HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)			40					GGCACTAGAACTGTTCCAGGA	0.423000																								0							SO:0001583	missense			ENST00000370552.3	1	1	hg19	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314871	0.60524	0.0	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.32988	1.43;1.43	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050078	0.85682	D	0.000000	T	0.32102	0.0818	L	0.38175	1.15	0.80722	D	1	P;P	0.37914	0.557;0.611	B;B	0.40165	0.215;0.321	T	0.01715	-1.1289	10	0.35671	T	0.21	-10.7404	20.1554	0.98111	0.0:1.0:0.0:0.0	.	238;238	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	N	238	ENSP00000359583:S238N;ENSP00000359577:S238N	ENSP00000359577:S238N	S	-	2	0	HPSE2	100493701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.894000	0.69806	2.838000	0.97847	0.591000	0.81541	AGT		TCGA-IB-7651-01A-11D-2154-08	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	0	0	1	105	442	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	100	433	0	107	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNNM1	26507	broad.mit.edu	37	10	101090473	101090473	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101090473C>T	ENST00000356713.4	+	1	1618	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	CNNM1_ENST00000370534.4_Silent_p.R78R|CNNM1_ENST00000370528.3_Silent_p.R372R|CNNM1_ENST00000446890.1_Silent_p.R372R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1			25		Colorectal(252;0.234)			TCATGCTGCGCTCAGACGCGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000356713.4	1	1	hg19	CCDS7478.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	1	0	1	51	245	0	65	1	5.392182e-01	5	5	0	65	2		0	0	0	0	0	2	1	1	51	237	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNNM1	26507	broad.mit.edu	37	10	101136957	101136957	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101136957C>T	ENST00000356713.4	+	7	2611	c.2322C>T	c.(2320-2322)agC>agT	p.S774S	CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000370528.3_Silent_p.S703S|CNNM1_ENST00000446890.1_Silent_p.S703S|CNNM1_ENST00000488090.1_3'UTR	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1			25		Colorectal(252;0.234)			ACATCCTCAGCGATGTGCAGT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000356713.4	1	1	hg19	CCDS7478.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	1	0	1	20	102	0	22	1	6.165502e-01	4	8	0	22	2		0	0	0	0	0	2	1	9.999974e-01	20	102	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999792	0.990000	1	9.900000e-01	1
CNNM1	26507	broad.mit.edu	37	10	101151259	101151259	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101151259C>T	ENST00000356713.4	+	11	3131	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S	CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1			25		Colorectal(252;0.234)			CAATTTAACACCTCTGATCAC	0.488000																								0							SO:0001583	missense			ENST00000356713.4	1	1	hg19	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654267	0.47467	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.79	5.79	0.91817	.	0.077331	0.53938	D	0.000056	T	0.64907	0.2641	N	0.19112	0.55	0.41761	D	0.989712	B;B;B	0.29862	0.084;0.094;0.259	B;B;B	0.25759	0.028;0.045;0.063	T	0.65639	-0.6119	10	0.52906	T	0.07	-11.6285	14.2188	0.65812	0.0:0.9288:0.0:0.0712	.	604;898;948	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	S	948;877;827;604;401	ENSP00000349147:P948S;ENSP00000406492:P877S;ENSP00000359559:P827S;ENSP00000359565:P604S	ENSP00000349147:P948S	P	+	1	0	CNNM1	101141249	0.869000	0.29996	0.771000	0.31576	0.978000	0.69477	3.935000	0.56560	2.734000	0.93682	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	1	0	1	17	129	0	46	0	1.618918e-01	1	5	0	46	2		0	0	0	0	0	2	1	9.999722e-01	17	127	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.850000	1.000000	1.000000	0.991165	0.990000	1	9.900000e-01	1
GOT1	2805	broad.mit.edu	37	10	101180479	101180479	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101180479T>G	ENST00000370508.5	-	2	229	c.202A>C	c.(202-204)Aat>Cat	p.N68H	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble			16		Ovarian(717;0.028)|Colorectal(252;0.234)		L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TACTCGTGATTTAGGCTATTG	0.522000													Melanoma(173;770 3544 21601)											0							SO:0001583	missense			ENST00000370508.5	1	1	hg19	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239518	0.58995	.	.	ENSG00000120053	ENST00000370508;ENST00000543866	D;D	0.90955	-2.76;-2.76	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.85299	2.745	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.45971	0.499;0.499	D	0.93775	0.7078	10	0.87932	D	0	6.6169	15.3757	0.74602	0.0:0.0:0.0:1.0	.	68;68	Q2TU84;P17174	.;AATC_HUMAN	H	68;47	ENSP00000359539:N68H;ENSP00000445578:N47H	ENSP00000359539:N68H	N	-	1	0	GOT1	101170469	1.000000	0.71417	0.920000	0.36463	0.027000	0.11550	7.533000	0.81994	2.326000	0.78906	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	1	0	1	101	430	0	84	1	1	85	143	0	84	2		0	0	0	0	0	2	1	1	100	420	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOT1	2805	broad.mit.edu	37	10	101190246	101190246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101190246C>A	ENST00000370508.5	-	1	104	c.77G>T	c.(76-78)aGg>aTg	p.R26M	GOT1_ENST00000471741.1_5'UTR|RP11-441O15.3_ENST00000416191.2_lincRNA|GOT1_ENST00000543866.1_5'Flank	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble			16		Ovarian(717;0.028)|Colorectal(252;0.234)		L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CGGATCCTCCCTGAAGTCGGC	0.602000													Melanoma(173;770 3544 21601)											0							SO:0001583	missense			ENST00000370508.5	1	1	hg19	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585378	0.66105	.	.	ENSG00000120053	ENST00000370508;ENST00000535447	T	0.23348	1.91	5.77	5.77	0.91146	Pyridoxal phosphate-dependent transferase, major domain (1);	0.107962	0.64402	D	0.000006	T	0.35364	0.0929	M	0.75615	2.305	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.09377	0.004;0.004	T	0.13469	-1.0508	10	0.87932	D	0	-4.1193	19.133	0.93415	0.0:1.0:0.0:0.0	.	26;26	Q2TU84;P17174	.;AATC_HUMAN	M	26	ENSP00000359539:R26M	ENSP00000359539:R26M	R	-	2	0	GOT1	101180236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.143000	0.58051	2.885000	0.99019	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	1	0	1	133	611	0	147	1	1	57	113	0	147	2		0	0	0	0	0	2	1	1	133	603	0	144	2								-2.676619	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A28	81894	broad.mit.edu	37	10	101370678	101370678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101370678G>A	ENST00000370495.4	-	4	1051	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	SLC25A28_ENST00000496035.1_5'Flank	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28			11		Colorectal(252;0.234)			CAGACCATGCGATGGCTGTGG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000370495.4	1	1	hg19	CCDS41559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	1	0	1	48	416	0	93	1	9.999991e-01	22	156	0	93	2		0	0	0	0	0	2	1	1	49	414	0	93	2								-16.435260	1	1	120882	1	29	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.920000	1.000000	1.000000	0.995802	0.990000	1	9.900000e-01	1
ENTPD7	57089	broad.mit.edu	37	10	101460751	101460751	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101460751T>G	ENST00000370489.4	+	11	1535	c.1357T>G	c.(1357-1359)Tcg>Gcg	p.S453A		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7			18		Colorectal(252;0.234)			CATGGCTTGGTCGGTACTAAC	0.453000																								0							SO:0001583	missense			ENST00000370489.4	1	0	hg19	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783540	0.31593	.	.	ENSG00000198018	ENST00000370489	T	0.11169	2.8	5.21	0.0737	0.14392	.	0.595426	0.17637	N	0.167179	T	0.08758	0.0217	L	0.53561	1.675	0.09310	N	0.999991	B	0.22146	0.065	B	0.25884	0.064	T	0.28459	-1.0043	10	0.33940	T	0.23	-5.7712	2.3385	0.04253	0.1192:0.3135:0.1225:0.4448	.	453	Q9NQZ7	ENTP7_HUMAN	A	453	ENSP00000359520:S453A	ENSP00000359520:S453A	S	+	1	0	ENTPD7	101450741	0.001000	0.12720	0.910000	0.35882	0.597000	0.36814	-0.204000	0.09425	0.094000	0.17404	0.523000	0.50628	TCG		TCGA-IB-7651-01A-11D-2154-08	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	0	0	1	246	898	4	241	1	9.953626e-01	5	43	4	241	4		0	0	0	0	0	2	1	1	240	875	3	240	29								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COX15	1355	broad.mit.edu	37	10	101487261	101487261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101487261G>A	ENST00000016171.5	-	3	382	c.332C>T	c.(331-333)cCt>cTt	p.P111L	COX15_ENST00000370483.5_Missense_Mutation_p.P111L|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)			13		Colorectal(252;0.234)			TTGGCTTGTAGGTGGCTTCAT	0.403000																								0							SO:0001583	missense			ENST00000016171.5	1	1	hg19	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316166	0.81469	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.87809	-2.3;-2.3	4.49	3.58	0.41010	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96657	0.9486	10	0.87932	D	0	-7.3348	13.0498	0.58948	0.0787:0.0:0.9213:0.0	.	111;111	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	L	111	ENSP00000359514:P111L;ENSP00000016171:P111L	ENSP00000016171:P111L	P	-	2	0	COX15	101477251	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.217000	0.77982	1.259000	0.44117	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	1	0	1	21	475	0	103	1	8.855885e-01	9	79	0	103	2		0	0	0	0	0	2	1	9.999971e-01	19	467	0	103	2								-3.229897	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.510000	0.320000	1.000000	0.500000	0.558128	0.510000	0	4.100000e-01	6.700000e-01
ABCC2	1244	broad.mit.edu	37	10	101560322	101560322	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101560322T>C	ENST00000370449.4	+	9	1322		c.e9+2			NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2			67		Colorectal(252;0.234)		Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TATAAGAAGGTAAGCAGAATA	0.408000																								0							SO:0001630	splice_region_variant			ENST00000370449.4	1	1	hg19	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671329	0.88348	.	.	ENSG00000023839	ENST00000370449	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.133	0.81458	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC2	101550312	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.021000	0.88750	2.212000	0.71576	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	1	0	1	94	418	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	93	410	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC2	1244	broad.mit.edu	37	10	101572802	101572802	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101572802A>C	ENST00000370449.4	+	16	2108	c.1995A>C	c.(1993-1995)caA>caC	p.Q665H		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2			67		Colorectal(252;0.234)		Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGGCAGGCCAACTTGTGGCTG	0.493000																								0							SO:0001583	missense			ENST00000370449.4	1	1	hg19	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813457	0.32053	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.79	-11.6	0.00059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.582342	0.18986	N	0.125740	D	0.86066	0.5844	M	0.64676	1.99	0.22880	N	0.998617	B	0.06786	0.001	B	0.06405	0.002	T	0.65380	-0.6182	10	0.66056	D	0.02	-0.0442	4.9829	0.14175	0.5568:0.1589:0.1597:0.1246	.	665	Q92887	MRP2_HUMAN	H	665	ENSP00000359478:Q665H	ENSP00000359478:Q665H	Q	+	3	2	ABCC2	101562792	0.000000	0.05858	0.000000	0.03702	0.676000	0.39594	-4.119000	0.00291	-2.567000	0.00470	-0.924000	0.02725	CAA		TCGA-IB-7651-01A-11D-2154-08	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	0	0	0	15	434	0	96	0	1.334301e-03	0	2	0	96	2		0	0	0	0	0	2	1	9.998651e-01	14	430	0	89	2								-2.917408	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.410000	0.230000	1.000000	0.400000	0.463771	0.410000	0	3.100000e-01	5.600000e-01
ABCC2	1244	broad.mit.edu	37	10	101604222	101604222	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101604222G>T	ENST00000370449.4	+	28	4100	c.3987G>T	c.(3985-3987)aaG>aaT	p.K1329N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2			67		Colorectal(252;0.234)		Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCATGGAGAAGGTAGGTGGAG	0.517000																								0							SO:0001630	splice_region_variant			ENST00000370449.4	1	0	hg19	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714854	0.89112	.	.	ENSG00000023839	ENST00000370449	D	0.94232	-3.38	5.64	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96924	0.9676	10	0.87932	D	0	-0.1001	14.5275	0.67900	0.0701:0.0:0.9299:0.0	.	1329	Q92887	MRP2_HUMAN	N	1329	ENSP00000359478:K1329N	ENSP00000359478:K1329N	K	+	3	2	ABCC2	101594212	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.543000	0.73874	1.398000	0.46701	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	1	0	1	88	389	0	103	1	4.521968e-01	2	6	0	103	2		0	0	0	0	0	2	1	1	89	383	0	103	2								-3.244829	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNMBP	23268	broad.mit.edu	37	10	101646207	101646207	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101646207G>T	ENST00000324109.4	-	13	3559	c.3468C>A	c.(3466-3468)aaC>aaA	p.N1156K	DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K|DNMBP_ENST00000342239.3_Missense_Mutation_p.N1180K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein			61		Colorectal(252;0.234)			GGGCCTCATAGTTGTTCCGGG	0.552000																								0							SO:0001583	missense			ENST00000324109.4	1	1	hg19	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620443	0.66787	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.82	3.96	0.45880	BAR (3);	0.000000	0.52532	D	0.000062	T	0.68256	0.2981	L	0.59436	1.845	0.54753	D	0.999989	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.963;0.994	T	0.62685	-0.6802	10	0.13108	T	0.6	-33.0653	13.1438	0.59450	0.1969:0.0:0.8031:0.0	.	1156;402;1180	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	K	1180;1156;402;402;92	ENSP00000344914:N1180K;ENSP00000315659:N1156K;ENSP00000443657:N402K;ENSP00000443573:N92K	ENSP00000315659:N1156K	N	-	3	2	DNMBP	101636197	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.481000	0.53179	0.393000	0.25203	-1.134000	0.01955	AAC		TCGA-IB-7651-01A-11D-2154-08	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	1	0	1	121	535	0	138	1	9.999965e-01	26	54	0	138	2		0	0	0	0	0	2	1	1	118	522	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNMBP	23268	broad.mit.edu	37	10	101654741	101654741	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101654741A>G	ENST00000324109.4	-	11	3209	c.3118T>C	c.(3118-3120)Ttt>Ctt	p.F1040L	DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000342239.3_Missense_Mutation_p.F1064L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein			61		Colorectal(252;0.234)			TCTCGGATAAAAGACTTAATC	0.368000																								0							SO:0001583	missense			ENST00000324109.4	1	1	hg19	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785164	0.70222	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.42513	0.97;0.97;0.97	5.77	5.77	0.91146	BAR (3);	0.000000	0.50627	D	0.000104	T	0.48677	0.1513	N	0.17082	0.46	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.999	D;P;D	0.87578	0.998;0.849;0.998	T	0.48163	-0.9059	10	0.33141	T	0.24	-20.926	15.7668	0.78131	1.0:0.0:0.0:0.0	.	1040;286;1064	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	1064;1040;286;286	ENSP00000344914:F1064L;ENSP00000315659:F1040L;ENSP00000443657:F286L	ENSP00000315659:F1040L	F	-	1	0	DNMBP	101644731	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.184000	0.94893	2.201000	0.70794	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	1	0	1	27	149	0	44	1	9.984229e-01	20	38	0	44	2		0	0	0	0	0	2	1	1	27	148	0	44	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999913	0.990000	1	9.900000e-01	1
DNMBP	23268	broad.mit.edu	37	10	101659757	101659757	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101659757T>C	ENST00000324109.4	-	7	2712	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G|DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000342239.3_Missense_Mutation_p.D874G	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein			61		Colorectal(252;0.234)			AATGGCCTCATCATGATTCTG	0.443000																								0							SO:0001583	missense			ENST00000324109.4	1	1	hg19	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862457	0.91511	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.48	5.48	0.80851	Dbl homology (DH) domain (5);	0.000000	0.49916	D	0.000133	T	0.77922	0.4203	M	0.71871	2.18	0.80722	D	1	D;D;D	0.71674	0.998;0.982;0.998	D;P;D	0.72338	0.977;0.861;0.977	T	0.79890	-0.1612	10	0.59425	D	0.04	-24.5908	15.8535	0.78956	0.0:0.0:0.0:1.0	.	874;120;874	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	G	874;874;120;120;162;162	ENSP00000344914:D874G;ENSP00000315659:D874G;ENSP00000443657:D120G;ENSP00000409476:D162G	ENSP00000315659:D874G	D	-	2	0	DNMBP	101649747	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	7.929000	0.87595	2.207000	0.71202	0.459000	0.35465	GAT		TCGA-IB-7651-01A-11D-2154-08	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	1	0	1	97	524	0	100	1	9.993693e-01	17	43	0	100	2		0	0	0	0	0	2	1	1	94	517	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPN1	1369	broad.mit.edu	37	10	101835819	101835819	+	Missense_Mutation	SNP	G	G	A	rs138185881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101835819G>A	ENST00000370418.3	-	2	520	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1			33		Colorectal(252;0.234)			GCGGCCCAACGCTTCGTTGCC	0.557000																								0							SO:0001583	missense			ENST00000370418.3	1	1	hg19	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894347	0.02491	0.0	1.16E-4	ENSG00000120054	ENST00000370418	T	0.09723	2.95	5.59	0.741	0.18336	Peptidase M14, carboxypeptidase A (4);	0.221527	0.46145	N	0.000303	T	0.02012	0.0063	N	0.00392	-1.555	0.27509	N	0.951746	B	0.12013	0.005	B	0.06405	0.002	T	0.46289	-0.9202	10	0.02654	T	1	-42.9443	9.0393	0.36307	0.7156:0.0:0.2844:0.0	.	90	P15169	CBPN_HUMAN	V	90	ENSP00000359446:A90V	ENSP00000359446:A90V	A	-	2	0	CPN1	101825809	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	1.868000	0.39509	-0.101000	0.12219	-0.302000	0.09304	GCG		TCGA-IB-7651-01A-11D-2154-08	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	1	0	1	95	376	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	95	373	0	79	2								-20.000000	1	1	121412	2	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERLIN1	10613	broad.mit.edu	37	10	101912014	101912014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101912014G>A	ENST00000421367.2	-	11	3628	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_ENST00000407654.3_Silent_p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1					Colorectal(252;0.234)			AGGAGTCCACGAACATGTTAG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000421367.2	1	1	hg19	CCDS7487.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	1	0	1	90	314	0	74	1	1	39	164	0	74	2		0	0	0	0	0	2	1	1	89	308	0	74	2								-3.888014	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHUK	1147	broad.mit.edu	37	10	101964413	101964413	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101964413A>G	ENST00000370397.7	-	13	1443	c.1357T>C	c.(1357-1359)Tta>Cta	p.L453L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase			27		Colorectal(252;0.117)		Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGAAGACTTAACCTAAACCAC	0.299000													Ovarian(159;52 1904 10536 35305 37148)											0							SO:0001630	splice_region_variant			ENST00000370397.7	1	0	hg19	CCDS7488.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	1	0	0	41	160	0	60	1	9.999614e-01	14	50	0	60	2		0	0	0	0	0	2	1	1	41	156	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD2L1	9033	broad.mit.edu	37	10	102055907	102055907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102055907G>T	ENST00000318222.3	-	7	1710	c.1328C>A	c.(1327-1329)gCt>gAt	p.A443D	PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1			43		Colorectal(252;0.117)			GAGGTTGACAGCATTCATGTT	0.493000																								0							SO:0001583	missense			ENST00000318222.3	1	1	hg19	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271172	0.95429	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.80304	-1.36;-1.36;-1.36	5.8	5.8	0.92144	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.92241	0.7539	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93266	0.6647	10	0.87932	D	0	-8.7781	19.0419	0.93004	0.0:0.0:1.0:0.0	.	396;443	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	D	368;443;443;441	ENSP00000345068:A368D;ENSP00000266049:A443D;ENSP00000325296:A443D	ENSP00000325296:A443D	A	-	2	0	PKD2L1	102045897	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	9.799000	0.99117	2.758000	0.94735	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	0	0	1	58	310	1	73		0	0	0	1	73	2		0	0	0	0	0	2	1	9.999998e-01	57	299	1	73	17								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCD	6319	broad.mit.edu	37	10	102114262	102114262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102114262C>T	ENST00000370355.2	+	4	901	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)			9		Colorectal(252;0.0323)			TCATAATTCCCGACGTGGCTT	0.507000													Colon(67;260 1459 9574 11663)											0							SO:0001587	stop_gained			ENST00000370355.2	0	1	hg19	CCDS7493.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	39	7.367420	0.98238	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	.	.	.	5.39	3.46	0.39613	.	0.267034	0.25236	N	0.032132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-13.626	9.3816	0.38318	0.4808:0.4005:0.1187:0.0	.	.	.	.	X	174	.	ENSP00000359380:R174X	R	+	1	2	SCD	102104252	0.037000	0.19845	0.995000	0.50966	0.869000	0.49853	0.575000	0.23729	0.590000	0.29694	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	1	0	1	88	519	0	108	0	1	0	418	0	108	2		0	0	0	0	0	2	1	1	86	509	0	107	2								-2.505990	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC31B	25956	broad.mit.edu	37	10	102265204	102265204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102265204G>A	ENST00000370345.3	-	10	1190	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)			36		Colorectal(252;0.117)			ACTTGCTCTGGCACCTGCAGT	0.517000																								0							SO:0001583	missense			ENST00000370345.3	1	1	hg19	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117907	0.77323	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.57907	0.62;0.37	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.79805	2.47	0.80722	D	1	P;P	0.38800	0.648;0.517	B;B	0.43658	0.426;0.191	T	0.67608	-0.5627	10	0.56958	D	0.05	-12.2986	19.0888	0.93217	0.0:0.0:1.0:0.0	.	364;365	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	365	ENSP00000359370:P365S;ENSP00000391178:P365S	ENSP00000359370:P365S	P	-	1	0	SEC31B	102255194	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.386000	0.59620	2.757000	0.94681	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	1	0	1	176	649	0	132	0	1.179010e-01	0	3	0	132	2		0	0	0	0	0	2	1	1	175	626	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFB8	4714	broad.mit.edu	37	10	102286192	102286192	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102286192G>T	ENST00000299166.4	-	4	444	c.432C>A	c.(430-432)tgC>tgA	p.C144*	SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*|NDUFB8_ENST00000531258.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000557395.1_Nonsense_Mutation_p.C144*	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa			4		Colorectal(252;0.234)			CCCCCACCCAGCACATGAATA	0.527000																								0							SO:0001587	stop_gained			ENST00000299166.4	0	1	hg19	CCDS7497.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587017	0.46110	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.69	3.76	0.43208	.	0.048843	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.9895	7.8746	0.29586	0.3275:0.0:0.6725:0.0	.	.	.	.	X	144;144;113;144	.	ENSP00000299166:C144X	C	-	3	2	NDUFB8	102276182	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	2.419000	0.44671	0.674000	0.31244	0.555000	0.69702	TGC		TCGA-IB-7651-01A-11D-2154-08	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	1	0	1	43	174	0	53	1	1	213	626	0	53	2		0	0	0	0	0	2	1	1	43	172	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAX2	5076	broad.mit.edu	37	10	102509502	102509502	+	Splice_Site	SNP	G	G	A	rs74550754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509502G>A	ENST00000428433.1	+	2	593		c.e2-1		PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000370296.2_Splice_Site|PAX2_ENST00000355243.3_Splice_Site	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2			18		Colorectal(252;0.234)			TCTCTCCCCAGCAGGGCACGG	0.672000																								0							SO:0001630	splice_region_variant			ENST00000428433.1	1	1	hg19	CCDS53569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.23|19.23	3.787798|3.787798	0.70337|0.70337	.|.	.|.	ENSG00000075891|ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000427256|ENST00000554172	.|D	.|0.97906	.|-4.6	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97952	.|0.9326	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.97814	.|1.0252	.|5	.|.	.|.	.|.	.|.	15.4423|15.4423	0.75195|0.75195	0.0659:0.0:0.9341:0.0|0.0659:0.0:0.9341:0.0	.|.	.|.	.|.	.|.	.|T	-1|19	.|ENSP00000452489:A19T	.|.	.|A	+|+	.|1	.|0	PAX2|PAX2	102499492|102499492	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	.|.	.|.	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	.|GCA		TCGA-IB-7651-01A-11D-2154-08	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	70	292	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	69	284	0	41	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM178A	55719	broad.mit.edu	37	10	102684141	102684141	+	Silent	SNP	C	C	T	rs141433125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102684141C>T	ENST00000238961.4	+	5	1925	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	FAM178A_ENST00000370271.3_Silent_p.T461T|FAM178A_ENST00000370269.3_Silent_p.T461T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A								AAAATAAAACCGCTAGCTCCA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000238961.4	1	1	hg19	CCDS7500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3	1	0	1	136	609	0	133	1	9.929426e-01	8	28	0	133	2		0	0	0	0	0	2	1	1	136	595	0	133	2								-2.676239	1	1	121412	10	48	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM178A	55719	broad.mit.edu	37	10	102689733	102689733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102689733C>A	ENST00000238961.4	+	8	2854	c.2312C>A	c.(2311-2313)gCt>gAt	p.A771D	FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A								GGACAAAGTGCTGTAGAAAAA	0.279000																								0							SO:0001583	missense			ENST00000238961.4	1	1	hg19	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031971	0.75504	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.33216	1.42;1.42	5.39	5.39	0.77823	.	0.219124	0.40728	N	0.001031	T	0.39036	0.1063	N	0.22421	0.69	0.38401	D	0.945651	D;D	0.62365	0.991;0.991	P;P	0.61874	0.895;0.895	T	0.10590	-1.0623	10	0.26408	T	0.33	-14.4674	17.8977	0.88893	0.0:1.0:0.0:0.0	.	771;771	Q8IX21;B1AL17	F178A_HUMAN;.	D	771	ENSP00000238961:A771D;ENSP00000359292:A771D	ENSP00000238961:A771D	A	+	2	0	FAM178A	102679723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.804000	0.96469	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3	1	0	1	37	215	0	44	1	9.876680e-01	8	35	0	44	2		0	0	0	0	0	2	1	1	36	210	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
SEMA4G	57715	broad.mit.edu	37	10	102743421	102743421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743421C>A	ENST00000370250.4	+	14	2423	c.2050C>A	c.(2050-2052)Ctt>Att	p.L684I	MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.L689I	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G			25		Colorectal(252;0.234)			CATTGCCGCGCTTGGTGGCCT	0.652000																								0							SO:0001583	missense			ENST00000370250.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	16.98	3.272109	0.59649	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.24538	1.85;1.93	5.53	3.64	0.41730	.	1.042350	0.07500	N	0.907053	T	0.39036	0.1063	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.69654	0.965	T	0.06303	-1.0834	10	0.37606	T	0.19	.	11.3735	0.49713	0.0:0.8284:0.0:0.1716	.	689	Q9NTN9-2	.	I	684;689	ENSP00000359270:L684I;ENSP00000210633:L689I	ENSP00000210633:L689I	L	+	1	0	SEMA4G	102733411	0.601000	0.26907	0.942000	0.38095	0.932000	0.56968	1.208000	0.32345	2.613000	0.88420	0.550000	0.68814	CTT		TCGA-IB-7651-01A-11D-2154-08	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2	1	0	1	19	114	0	30	1	9.997825e-01	46	42	0	30	2		0	0	0	0	0	2	1	9.999934e-01	18	113	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998945	0.990000	1	9.900000e-01	1
SEMA4G	57715	broad.mit.edu	37	10	102743779	102743779	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743779A>G	ENST00000370250.4	+	14	2781	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S	MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.N808S	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G			25		Colorectal(252;0.234)			AGGCAGAGCAACAATGGAGTA	0.607000																								0							SO:0001583	missense			ENST00000370250.4	1	0	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.08|14.08	2.427250|2.427250	0.43122|0.43122	.|.	.|.	ENSG00000095539|ENSG00000055950	ENST00000370250;ENST00000210633|ENST00000370242;ENST00000342071	T;T|.	0.18016|.	2.24;2.32|.	5.34|5.34	4.21|4.21	0.49690|0.49690	.|.	1.345510|.	0.04794|.	U|.	0.432238|.	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.08118|0.08118	0|0	0.33117|0.33117	D|D	0.54126|0.54126	B|B;B	0.06786|0.17465	0.001|0.022;0.007	B|B;B	0.11329|0.17433	0.006|0.018;0.004	T|T	0.31308|0.31308	-0.9948|-0.9948	10|8	0.37606|0.87932	T|D	0.19|0	-23.4012|-23.4012	10.1788|10.1788	0.42955|0.42955	0.9216:0.0:0.0784:0.0|0.9216:0.0:0.0784:0.0	.|.	808|173;173	Q9NTN9-2|B1AL06;C9J5Q3	.|.;.	S|A	803;808|173	ENSP00000359270:N803S;ENSP00000210633:N808S|.	ENSP00000210633:N808S|ENSP00000339844:V173A	N|V	+|-	2|2	0|0	SEMA4G|MRPL43	102733769|102733769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	5.817000|5.817000	0.69229|0.69229	0.886000|0.886000	0.36113|0.36113	0.449000|0.449000	0.29647|0.29647	AAC|GTT		TCGA-IB-7651-01A-11D-2154-08	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2	0	0	1	105	483	0	90	1	9.999630e-01	37	32	0	90	2		0	0	0	0	0	2	1	1	103	468	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf2	56652	broad.mit.edu	37	10	102749183	102749183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102749183C>T	ENST00000311916.2	+	1	1401	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R406*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2			24		Colorectal(252;0.122)|all_hematologic(284;0.152)			GAAGGGACATCGAAAGGGCGA	0.527000																								0							SO:0001587	stop_gained			ENST00000311916.2	0	1	hg19	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536445	0.85812	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2613	19.1729	0.93588	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000309595:R406X	R	+	1	2	C10orf2	102739173	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	4.853000	0.62911	2.873000	0.98535	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	1	0	1	73	324	0	85	1	9.168300e-01	4	17	0	85	2		0	0	0	0	0	2	1	1	73	318	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LZTS2	84445	broad.mit.edu	37	10	102763691	102763691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102763691G>A	ENST00000370220.1	+	2	3899	c.836G>A	c.(835-837)aGc>aAc	p.S279N	LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N					leucine zipper, putative tumor suppressor 2			22					TCCTCCTCCAGCAAGAGCACA	0.697000													Esophageal Squamous(8;38 437 13604 19902 37640)											0							SO:0001583	missense			ENST00000370220.1	1	1	hg19	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769278	0.69992	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.51071	0.72;0.72	5.01	4.09	0.47781	.	0.041017	0.85682	D	0.000000	T	0.30230	0.0758	N	0.20685	0.6	0.49915	D	0.999835	B	0.25904	0.137	B	0.21151	0.033	T	0.08452	-1.0721	9	.	.	.	-17.0117	12.8199	0.57688	0.0808:0.0:0.9192:0.0	.	279	Q9BRK4	LZTS2_HUMAN	N	279	ENSP00000359243:S279N;ENSP00000359240:S279N	.	S	+	2	0	LZTS2	102753681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.131000	0.64751	2.467000	0.83353	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	1	0	1	86	319	0	46	1	9.999999e-01	10	80	0	46	2		0	0	0	0	0	2	1	1	85	313	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LZTS2	84445	broad.mit.edu	37	10	102765260	102765260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102765260C>A	ENST00000370220.1	+	3	4177	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M					leucine zipper, putative tumor suppressor 2			22					GCGTGAGGCCCTGCGAGAGGA	0.657000													Esophageal Squamous(8;38 437 13604 19902 37640)											0							SO:0001583	missense			ENST00000370220.1	1	1	hg19	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152810	0.57259	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.53206	0.63;0.63	4.32	4.32	0.51571	.	0.173586	0.37809	N	0.001924	T	0.61565	0.2357	M	0.80508	2.5	0.39210	D	0.96329	D	0.54601	0.967	P	0.57548	0.823	T	0.68337	-0.5435	10	0.72032	D	0.01	0.7177	8.2205	0.31539	0.0:0.8148:0.0:0.1851	.	372	Q9BRK4	LZTS2_HUMAN	M	372	ENSP00000359243:L372M;ENSP00000359240:L372M	ENSP00000314437:L372M	L	+	1	2	LZTS2	102755250	0.068000	0.21057	0.996000	0.52242	0.885000	0.51271	0.948000	0.29096	1.960000	0.56953	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	1	0	1	61	240	0	45	1	1	19	124	0	45	2		0	0	0	0	0	2	1	1	60	235	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LZTS2	84445	broad.mit.edu	37	10	102766458	102766458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766458C>T	ENST00000370220.1	+	4	4606	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*					leucine zipper, putative tumor suppressor 2			22					GGAGCTGCAGCGACACCGCCA	0.701000													Esophageal Squamous(8;38 437 13604 19902 37640)											0							SO:0001587	stop_gained			ENST00000370220.1	0	1	hg19	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	57	28.821900	0.99974	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9984	14.1048	0.65080	0.151:0.849:0.0:0.0	.	.	.	.	X	515	.	ENSP00000314437:R515X	R	+	1	2	LZTS2	102756448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.653000	0.46691	2.677000	0.91161	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	1	0	1	24	95	0	13	1	1	20	120	0	13	2		0	0	0	0	0	2	1	9.999999e-01	24	94	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
LZTS2	84445	broad.mit.edu	37	10	102766922	102766922	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766922C>A	ENST00000370220.1	+	4	5070	c.2007C>A	c.(2005-2007)atC>atA	p.I669I	LZTS2_ENST00000370223.3_Silent_p.I669I					leucine zipper, putative tumor suppressor 2			22					CTACTGAGATCTAGGGCCCTC	0.657000													Esophageal Squamous(8;38 437 13604 19902 37640)											0							SO:0001819	synonymous_variant			ENST00000370220.1	0	1	hg19	CCDS7507.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	1	0	1	10	98	0	14	1	9.993452e-01	7	132	0	14	2		0	0	0	0	0	2	1	9.971988e-01	10	97	0	14	2								-15.883340	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.580000	1.000000	1.000000	0.938598	0.990000	1	8.200000e-01	1
PDZD7	79955	broad.mit.edu	37	10	102777979	102777979	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102777979G>T	ENST00000370215.3	-	9	1624	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7			22					AGGTTCATCAGCGTCTTGGAG	0.652000																								0							SO:0001583	missense			ENST00000370215.3	1	1	hg19	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908545	0.72868	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.15372	2.43	4.12	4.12	0.48240	.	0.953905	0.08577	N	0.925156	T	0.34135	0.0887	L	0.40543	1.245	0.28043	N	0.933661	D;D	0.76494	0.996;0.999	P;D	0.67548	0.823;0.952	T	0.24905	-1.0147	10	0.56958	D	0.05	.	14.3404	0.66622	0.0:0.0:1.0:0.0	.	467;467	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	M	467	ENSP00000359234:L467M	ENSP00000359234:L467M	L	-	1	2	PDZD7	102767969	0.999000	0.42202	0.995000	0.50966	0.995000	0.86356	3.358000	0.52284	2.117000	0.64856	0.555000	0.69702	CTG		TCGA-IB-7651-01A-11D-2154-08	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	1	0	1	81	390	0	101	1	3.478883e-01	4	3	0	101	2		0	0	0	0	0	2	1	1	79	386	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDZD7	79955	broad.mit.edu	37	10	102783309	102783309	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102783309C>A	ENST00000370215.3	-	4	651	c.426G>T	c.(424-426)gaG>gaT	p.E142D	PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7			22					TGGTGGTGCTCTCCAGGCTCA	0.647000																								0							SO:0001583	missense			ENST00000370215.3	1	1	hg19	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.391612	0.42410	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.30182	1.54	5.05	2.2	0.27929	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.25060	0.705	0.44890	D	0.997906	P;B	0.41947	0.766;0.096	P;B	0.50440	0.641;0.038	T	0.01352	-1.1377	10	0.36615	T	0.2	.	12.6631	0.56826	0.0:0.8225:0.0:0.1775	.	142;142	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	142	ENSP00000359234:E142D	ENSP00000359234:E142D	E	-	3	2	PDZD7	102773299	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	2.198000	0.42705	-0.039000	0.13602	-2.721000	0.00131	GAG		TCGA-IB-7651-01A-11D-2154-08	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	1	0	1	70	291	0	78	1	6.607483e-01	2	9	0	78	2		0	0	0	0	0	2	1	1	68	289	0	77	2								-3.545186	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LBX1	10660	broad.mit.edu	37	10	102988278	102988278	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102988278G>T	ENST00000370193.2	-	1	1273	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	LBX1-AS1_ENST00000546988.1_RNA|LBX1-AS1_ENST00000547077.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1			7		Colorectal(252;0.234)			CTGACCTCCAGCCCCTTAAAC	0.721000																								0							SO:0001583	missense			ENST00000370193.2	0	1	hg19	CCDS31270.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522727	0.85600	.	.	ENSG00000138136	ENST00000370193	D	0.94376	-3.41	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000002	D	0.95996	0.8696	M	0.79475	2.455	0.58432	D	0.999997	D	0.71674	0.998	D	0.68765	0.96	D	0.94652	0.7840	10	0.24483	T	0.36	.	16.3882	0.83523	0.0:0.0:1.0:0.0	.	99	P52954	LBX1_HUMAN	M	99	ENSP00000359212:L99M	ENSP00000359212:L99M	L	-	1	2	LBX1	102978268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.199000	0.72112	2.411000	0.81874	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	0	0	1	4	12	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	8.994337e-01	4	12	0	7	2								-11.903890	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.770000	1.000000	1.000000	0.986647	0.990000	1	9.900000e-01	1
BTRC	8945	broad.mit.edu	37	10	103285770	103285770	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103285770C>A	ENST00000370187.3	+	6	675	c.557C>A	c.(556-558)gCt>gAt	p.A186D	BTRC_ENST00000393441.4_Splice_Site_p.A145D|BTRC_ENST00000408038.2_Splice_Site_p.A150D	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase			27		Colorectal(252;0.234)			CTACTGAAAGCTCGGGGATTG	0.438000																								0							SO:0001630	splice_region_variant			ENST00000370187.3	1	0	hg19	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967622	0.53507	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.53	5.53	0.82687	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.43757	1.38	0.80722	D	1	B;B;B	0.32350	0.336;0.28;0.366	B;B;B	0.34301	0.084;0.171;0.179	T	0.02156	-1.1204	9	.	.	.	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	160;150;186	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	D	186;145;150;168	ENSP00000359206:A186D;ENSP00000377088:A145D;ENSP00000385339:A150D;ENSP00000359202:A168D	.	A	+	2	0	BTRC	103275760	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.611000	0.88343	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	1	0	1	27	117	0	38	1	9.993721e-01	17	37	0	38	2		0	0	0	0	0	2	1	1	25	113	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
POLL	27343	broad.mit.edu	37	10	103339447	103339447	+	Silent	SNP	G	G	A	rs145961723	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103339447G>A	ENST00000370162.3	-	9	1985	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	POLL_ENST00000370172.1_Silent_p.S409S|POLL_ENST00000370169.1_Silent_p.S497S|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000456836.2_Silent_p.S234S|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Silent_p.S220S|POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000463515.1_5'UTR	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda			19		Colorectal(252;0.234)			AGGCAAACTCGCTATAGGGCA	0.607000								DNA polymerases (catalytic subunits)																0							SO:0001819	synonymous_variant			ENST00000370162.3	1	1	hg19	CCDS7513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	1	0	0	56	576	0	102	1	9.012464e-01	6	37	0	102	2		0	0	0	0	0	2	1	1	56	570	0	100	2								-15.398330	1	1	121412	32	48	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.810000	1.000000	1.000000	0.974126	0.990000	1	9.200000e-01	1
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	rs146112511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103342623C>T	ENST00000370162.3	-	7	1585	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	POLL_ENST00000370172.1_Missense_Mutation_p.R276H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000463515.1_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda			19		Colorectal(252;0.234)			GGCCTGGCTGCGGATGTCTTC	0.552000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000370162.3	1	1	hg19	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259113	0.59321	2.27E-4	0.0	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	1.09	0.20402	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.162814	0.56097	N	0.000024	T	0.67683	0.2919	M	0.89840	3.065	0.80722	D	1	P;D;D;D;D;D	0.76494	0.929;0.981;0.996;0.998;0.999;0.959	B;B;P;P;P;B	0.60949	0.388;0.42;0.727;0.605;0.881;0.42	T	0.73726	-0.3892	10	0.72032	D	0.01	-29.7121	11.8579	0.52449	0.0:0.7193:0.0:0.2807	.	87;101;89;364;272;37	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	H	364;364;364;87;276;37;364;89;364;101;272;87	ENSP00000299206:R364H;ENSP00000359188:R364H;ENSP00000343102:R87H;ENSP00000359191:R276H;ENSP00000359187:R37H;ENSP00000359181:R364H;ENSP00000359177:R89H;ENSP00000390810:R101H;ENSP00000400676:R272H;ENSP00000406791:R87H	ENSP00000299206:R364H	R	-	2	0	POLL	103332613	1.000000	0.71417	0.691000	0.30163	0.953000	0.61014	1.076000	0.30729	0.307000	0.22880	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	1	0	1	97	338	0	88	1	9.999961e-01	6	59	0	88	2		0	0	0	0	0	2	1	1	94	329	0	87	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLL	27343	broad.mit.edu	37	10	103347012	103347012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103347012C>A	ENST00000370162.3	-	2	600	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	POLL_ENST00000370172.1_Intron|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000436284.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda			19		Colorectal(252;0.234)			CCTTCTGCTTCTTCTCCCTCT	0.483000								DNA polymerases (catalytic subunits)																0							SO:0001587	stop_gained			ENST00000370162.3	0	1	hg19	CCDS7513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488665|2.488665	0.44249|0.44249	.|.	.|.	ENSG00000166169|ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000413344;ENST00000430045|ENST00000339310;ENST00000370158;ENST00000456836;ENST00000429502	.|T;T;T;T	.|0.42131	.|0.98;2.46;2.4;0.98	5.05|5.05	4.15|4.15	0.48705|0.48705	.|.	1.271560|.	0.05127|.	N|.	0.491771|.	.|T	.|0.31104	.|0.0786	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999982|0.999982	.|B;B;B	.|0.31413	.|0.057;0.18;0.322	.|B;B;B	.|0.28553	.|0.019;0.025;0.091	.|T	.|0.17440	.|-1.0369	.|8	0.12766|0.48119	T|T	0.61|0.1	-6.2789|-6.2789	9.1991|9.1991	0.37246|0.37246	0.0:0.8281:0.0:0.1719|0.0:0.8281:0.0:0.1719	.|.	.|17;17;19	.|Q5JQP4;B4DEF5;Q9BTN8	.|.;.;.	X|N	36|17;19;17;17	.|ENSP00000343102:K17N;ENSP00000359177:K19N;ENSP00000390810:K17N;ENSP00000406791:K17N	ENSP00000299206:E36X|ENSP00000343102:K17N	E|K	-|-	1|3	0|2	POLL|POLL	103337002|103337002	0.186000|0.186000	0.23225|0.23225	0.010000|0.010000	0.14722|0.14722	0.049000|0.049000	0.14656|0.14656	1.336000|1.336000	0.33850|0.33850	1.143000|1.143000	0.42306|0.42306	-0.253000|-0.253000	0.11424|0.11424	GAA|AAG		TCGA-IB-7651-01A-11D-2154-08	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	1	0	0	124	553	0	121	1	9.974879e-01	6	36	0	121	2		0	0	0	0	0	2	1	1	122	542	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXW4	6468	broad.mit.edu	37	10	103427655	103427655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103427655C>A	ENST00000331272.7	-	5	1376	c.758G>T	c.(757-759)aGc>aTc	p.S253I		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	p.S253>?(1)		15		Colorectal(252;0.123)			GAGTAATGGGCTGATAGCAAT	0.468000																								1	Complex(1)						SO:0001583	missense			ENST00000331272.7	1	1	hg19	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434945	0.83885	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	T	0.22945	1.93	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.076593	0.85682	D	0.000000	T	0.46483	0.1395	M	0.74647	2.275	0.58432	D	0.999993	D	0.67145	0.996	P	0.59171	0.853	T	0.42413	-0.9453	10	0.72032	D	0.01	-20.1976	13.5087	0.61499	0.0:0.9286:0.0:0.0714	.	253	P57775	FBXW4_HUMAN	I	253;253;166;209	ENSP00000359149:S253I	ENSP00000359149:S253I	S	-	2	0	FBXW4	103417645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.468000	0.53086	2.878000	0.98634	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	1	0	1	121	548	0	161	1	1	59	185	0	161	2		0	0	0	0	0	2	1	1	118	539	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGF8	2253	broad.mit.edu	37	10	103530353	103530353	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103530353G>A	ENST00000344255.3	-	6	434	c.435C>T	c.(433-435)tgC>tgT	p.C145C	FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Silent_p.C127C|FGF8_ENST00000320185.2_Silent_p.C156C|FGF8_ENST00000346714.3_Silent_p.C116C			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)			5		Colorectal(252;0.122)			CCGTGAAGACGCAGTCCTTGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000344255.3	0	1	hg19	CCDS7517.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	0	0	0	8	334	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.889302e-01	8	329	0	51	2								-3.287632	1	1	121412	1	34	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.300000	0.130000	1.000000	0.270000	0.362333	0.300000	0	2.000000e-01	4.500000e-01
NPM3	10360	broad.mit.edu	37	10	103542239	103542239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103542239G>A	ENST00000370110.5	-	3	342	c.320C>T	c.(319-321)cCc>cTc	p.P107L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3			5		Colorectal(252;0.122)			ACTCACCATGGGTTGGCAGGA	0.577000																								0							SO:0001583	missense			ENST00000370110.5	1	1	hg19	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633242	0.87660	.	.	ENSG00000107833	ENST00000370110	T	0.53423	0.62	5.45	5.45	0.79879	Nucleoplasmin core (2);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.39245	1.2	0.80722	D	1	P	0.34757	0.467	B	0.36719	0.231	T	0.47262	-0.9131	10	0.66056	D	0.02	-27.2961	17.4687	0.87639	0.0:0.0:1.0:0.0	.	107	O75607	NPM3_HUMAN	L	107	ENSP00000359128:P107L	ENSP00000359128:P107L	P	-	2	0	NPM3	103532229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.433000	0.90291	2.556000	0.86216	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	1	0	1	15	72	0	28	1	1	109	188	0	28	2		0	0	0	0	0	2	1	9.998882e-01	14	69	0	28	2								-11.416280	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999445	0.990000	1	9.900000e-01	1
MGEA5	10724	broad.mit.edu	37	10	103559127	103559127	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103559127G>A	ENST00000361464.3	-	9	1676	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	MGEA5_ENST00000439817.1_Silent_p.T374T|MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000370094.3_Silent_p.T427T|MGEA5_ENST00000357797.5_Silent_p.T374T	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)			23		Colorectal(252;0.207)			TTGTTACTACGGTTGTGGCAT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000361464.3	1	1	hg19	CCDS7520.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	1	0	1	153	647	0	135	1	1	63	93	0	135	2		0	0	0	0	0	2	1	1	150	633	0	134	2								-2.531394	1	1	121412	4	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGEA5	10724	broad.mit.edu	37	10	103565854	103565854	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103565854A>C	ENST00000361464.3	-	6	1094	c.699T>G	c.(697-699)taT>taG	p.Y233*	MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)			23		Colorectal(252;0.207)			CAGTCCTTAAATATGGAGACT	0.353000																								0							SO:0001587	stop_gained			ENST00000361464.3	0	1	hg19	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	A	37	6.507353	0.97624	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	5.27	0.378	0.16204	.	0.130087	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5857	8.4558	0.32899	0.6723:0.0:0.3277:0.0	.	.	.	.	X	233	.	ENSP00000350445:Y233X	Y	-	3	2	MGEA5	103555844	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.082000	0.30803	-0.170000	0.10816	0.529000	0.55759	TAT		TCGA-IB-7651-01A-11D-2154-08	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	1	0	1	54	178	0	36	1	1	9	88	0	36	2		0	0	0	0	0	2	1	1	53	171	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGEA5	10724	broad.mit.edu	37	10	103567613	103567613	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103567613T>C	ENST00000361464.3	-	5	921	c.526A>G	c.(526-528)Ata>Gta	p.I176V	MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)			23		Colorectal(252;0.207)			TTATGGTCTATATCATCAAAA	0.353000																								0							SO:0001583	missense			ENST00000361464.3	1	1	hg19	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369227	0.82463	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.41758	1.1;1.03;1.13;0.99	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.997;0.998	D;D;D;D	0.70935	0.923;0.921;0.966;0.971	T	0.66618	-0.5878	10	0.87932	D	0	-19.0523	15.6177	0.76780	0.0:0.0:0.0:1.0	.	176;176;176;176	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	V	176;176;176;176;124	ENSP00000409973:I176V;ENSP00000354850:I176V;ENSP00000350445:I176V;ENSP00000359112:I176V	ENSP00000350445:I176V	I	-	1	0	MGEA5	103557603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.156000	0.67533	0.477000	0.44152	ATA		TCGA-IB-7651-01A-11D-2154-08	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	1	0	1	144	629	0	140	1	1	44	81	0	140	2		0	0	0	0	0	2	1	1	142	612	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf76	79591	broad.mit.edu	37	10	103766356	103766356	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103766356A>G	ENST00000370033.4	-	14	1108	c.989T>C	c.(988-990)gTc>gCc	p.V330A		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76			24		Colorectal(252;0.123)			AGCAGGACTGACAGGGGTCGT	0.483000																								0							SO:0001583	missense			ENST00000370033.4	1	1	hg19	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	A	4.934	0.173538	0.09391	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.92	3.4	0.38934	.	0.576877	0.19762	N	0.106659	T	0.13756	0.0333	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08066	-1.0740	9	0.08381	T	0.77	-7.7272	2.1276	0.03742	0.5865:0.1339:0.1506:0.129	.	330	Q5T2E6	CJ076_HUMAN	A	330	.	ENSP00000359050:V330A	V	-	2	0	C10orf76	103756346	0.292000	0.24362	1.000000	0.80357	0.935000	0.57460	1.817000	0.39002	1.020000	0.39573	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	1	0	1	103	444	0	107	1	9.999902e-01	28	45	0	107	2		0	0	0	0	0	2	1	1	103	439	0	107	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf76	79591	broad.mit.edu	37	10	103783272	103783272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103783272C>T	ENST00000370033.4	-	8	750	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76			24		Colorectal(252;0.123)			GCCAAGAGGACGACAGCATCA	0.458000																								0							SO:0001583	missense			ENST00000370033.4	1	1	hg19	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427440	0.43122	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.34521	1.04	0.80722	D	1	B	0.33345	0.409	B	0.22753	0.041	T	0.39941	-0.9589	9	0.29301	T	0.29	-12.1907	18.8547	0.92247	0.0:1.0:0.0:0.0	.	211	Q5T2E6	CJ076_HUMAN	I	211	.	ENSP00000359050:V211I	V	-	1	0	C10orf76	103773262	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	7.480000	0.81109	2.526000	0.85167	0.467000	0.42956	GTC		TCGA-IB-7651-01A-11D-2154-08	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	1	0	1	65	326	0	66	1	9.999362e-01	25	48	0	66	2		0	0	0	0	0	2	1	1	64	322	0	65	2								-20.000000	1	1	120856	1	26	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LDB1	8861	broad.mit.edu	37	10	103869426	103869426	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103869426C>A	ENST00000425280.1	-	8	1005	c.663G>T	c.(661-663)caG>caT	p.Q221H	LDB1_ENST00000361198.5_Missense_Mutation_p.Q185H|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1			21		Colorectal(252;0.122)			GATCCAACATCTGGGGGTCTT	0.532000																								0							SO:0001583	missense			ENST00000425280.1	1	1	hg19	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318692	0.60524	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.67	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.991;0.993	D;P	0.78314	0.991;0.77	T	0.64241	-0.6454	9	0.51188	T	0.08	-21.565	10.9601	0.47381	0.0:0.8573:0.0:0.1427	.	221;185	Q86U70;Q86U70-3	LDB1_HUMAN;.	H	185;221	.	ENSP00000354616:Q185H	Q	-	3	2	LDB1	103859416	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.162000	0.42367	1.416000	0.47057	-0.448000	0.05591	CAG		TCGA-IB-7651-01A-11D-2154-08	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	50	274	0	81	1	1	29	196	0	81	2		0	0	0	0	0	2	1	1	48	263	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PPRC1	23082	broad.mit.edu	37	10	103900616	103900616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103900616A>C	ENST00000278070.2	+	5	2390	c.2351A>C	c.(2350-2352)gAg>gCg	p.E784A	PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1			56		Colorectal(252;0.122)			AGCCTTCCAGAGACTCCCACA	0.567000																								0							SO:0001583	missense			ENST00000278070.2	1	1	hg19	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869727	0.51588	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.36520	1.34;1.25	5.41	4.21	0.49690	.	0.278437	0.31071	N	0.008315	T	0.44350	0.1289	L	0.34521	1.04	0.39246	D	0.963949	D;D;D	0.65815	0.991;0.995;0.991	P;D;P	0.64144	0.876;0.922;0.838	T	0.41752	-0.9491	10	0.46703	T	0.11	.	12.1932	0.54282	0.8725:0.0:0.0:0.1275	.	784;664;784	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	A	784	ENSP00000278070:E784A;ENSP00000399743:E784A	ENSP00000278070:E784A	E	+	2	0	PPRC1	103890606	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.134000	0.64770	2.184000	0.69523	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	1	0	1	116	428	0	108	1	9.999999e-01	36	53	0	108	2		0	0	0	0	0	2	1	1	114	417	0	107	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPRC1	23082	broad.mit.edu	37	10	103901019	103901019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103901019C>T	ENST00000278070.2	+	5	2793	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A	PPRC1_ENST00000413464.2_Silent_p.A918A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1			56		Colorectal(252;0.122)			CTCACTATGCCCCCTTGCCAT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000278070.2	1	1	hg19	CCDS7529.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	0	1	79	381	0	70	1	9.997932e-01	18	44	0	70	2		0	0	0	0	0	2	1	1	76	368	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPRC1	23082	broad.mit.edu	37	10	103908144	103908144	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908144C>A	ENST00000278070.2	+	10	4455	c.4416C>A	c.(4414-4416)tcC>tcA	p.S1472S	PPRC1_ENST00000413464.2_Silent_p.S1208S|PPRC1_ENST00000370012.1_Silent_p.S439S|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1			56		Colorectal(252;0.122)			GCTGTAGTTCCTCTGGACGTT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000278070.2	0	1	hg19	CCDS7529.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	0	0	12	423	0	99	1	8.535655e-01	13	111	0	99	2		0	0	0	0	0	2	1	9.990519e-01	12	416	0	98	2								-2.936669	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.340000	0.180000	1.000000	0.320000	0.401841	0.340000	0	2.500000e-01	4.900000e-01
PPRC1	23082	broad.mit.edu	37	10	103908623	103908623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908623G>A	ENST00000278070.2	+	12	4706	c.4667G>A	c.(4666-4668)cGa>cAa	p.R1556Q	PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1			56		Colorectal(252;0.122)			CGCATGACTCGATCAGAGCTG	0.488000																								0							SO:0001583	missense			ENST00000278070.2	1	1	hg19	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291454	0.80914	0.0	1.16E-4	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.15256	2.44;2.44;2.44	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055167	0.64402	D	0.000001	T	0.28532	0.0706	L	0.27053	0.805	0.28658	N	0.906283	D;D;P	0.64830	0.99;0.994;0.915	D;P;P	0.64595	0.927;0.737;0.48	T	0.03910	-1.0993	10	0.56958	D	0.05	.	16.1782	0.81884	0.0:0.1331:0.8669:0.0	.	1292;1434;1556	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	1556;1292;523	ENSP00000278070:R1556Q;ENSP00000399743:R1292Q;ENSP00000359029:R523Q	ENSP00000278070:R1556Q	R	+	2	0	PPRC1	103898613	0.954000	0.32549	1.000000	0.80357	0.993000	0.82548	4.277000	0.58939	2.704000	0.92352	0.549000	0.68633	CGA		TCGA-IB-7651-01A-11D-2154-08	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	1	0	1	43	234	0	35	1	1	50	131	0	35	2		0	0	0	0	0	2	1	1	42	230	0	34	2								-19.987940	1	1	121412	14	40	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
NOLC1	9221	broad.mit.edu	37	10	103921395	103921395	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103921395T>C	ENST00000605788.1	+	11	2059	c.1824T>C	c.(1822-1824)ccT>ccC	p.P608P	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Silent_p.P609P|NOLC1_ENST00000405356.1_Silent_p.P618P|NOLC1_ENST00000603742.1_Silent_p.P327P	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1			31		Colorectal(252;0.122)			TTCAGACCCCTAACACATTTC	0.428000																								0							SO:0001819	synonymous_variant			ENST00000605788.1	1	1	hg19	CCDS7530.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	1	0	1	33	140	0	46	1	1	178	242	0	46	2		0	0	0	0	0	2	1	1	30	137	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ELOVL3	83401	broad.mit.edu	37	10	103986348	103986348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103986348T>C	ENST00000370005.3	+	1	264	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3			16		Colorectal(252;0.207)			AAATCAGCTGTTCCAGCCCTA	0.532000																								0							SO:0001583	missense			ENST00000370005.3	1	1	hg19	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	T	5.667	0.307660	0.10733	.	.	ENSG00000119915	ENST00000370005	T	0.20881	2.04	4.62	-1.08	0.09936	.	4.602870	0.00397	N	0.000058	T	0.07638	0.0192	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21314	-1.0249	10	0.06891	T	0.86	.	2.6472	0.04987	0.4086:0.2442:0.0:0.3472	.	15	Q9HB03	ELOV3_HUMAN	L	15	ENSP00000359022:F15L	ENSP00000359022:F15L	F	+	1	0	ELOVL3	103976338	0.000000	0.05858	0.014000	0.15608	0.422000	0.31414	-0.262000	0.08682	-0.015000	0.14150	0.459000	0.35465	TTC		TCGA-IB-7651-01A-11D-2154-08	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	1	0	1	82	405	0	78	0	7.721743e-02	0	3	0	78	2		0	0	0	0	0	2	1	1	78	399	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITX3	5309	broad.mit.edu	37	10	103991721	103991721	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103991721G>A	ENST00000370002.3	-	2	270	c.117C>T	c.(115-117)agC>agT	p.S39S	PITX3_ENST00000539804.1_Splice_Site_p.S39S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3			5		Colorectal(252;0.00957)			CGCGCTTACCGCTGTGCTCCT	0.716000																								0							SO:0001630	splice_region_variant			ENST00000370002.3	1	0	hg19	CCDS7532.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1	1	0	0	16	187	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.999446e-01	16	187	0	46	2								-19.954110	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.960000	0.570000	1.000000	1.000000	0.898988	0.960000	1	7.400000e-01	1
GBF1	8729	broad.mit.edu	37	10	104119161	104119161	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104119161C>T	ENST00000369983.3	+	11	1406	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1			71		Colorectal(252;0.0236)			ATCCCCGGGGCGTGCGCTTTA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000369983.3	1	1	hg19	CCDS7533.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	0	15	275	0	53	1	9.645248e-01	7	97	0	53	2		0	0	0	0	0	2	1	9.998515e-01	14	267	0	52	2								-3.228775	1	1	121412	8	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.640000	0.360000	1.000000	0.600000	0.667564	0.640000	0	4.800000e-01	8.600000e-01
GBF1	8729	broad.mit.edu	37	10	104121533	104121533	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104121533A>G	ENST00000369983.3	+	14	1807	c.1547A>G	c.(1546-1548)gAg>gGg	p.E516G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1			71		Colorectal(252;0.0236)			ATGCCTTATGAGATGAAGGAG	0.473000																								0							SO:0001583	missense			ENST00000369983.3	1	1	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	33	5.211557	0.95069	.	.	ENSG00000107862	ENST00000369983	T	0.47528	0.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.90425	3.115	0.80722	D	1	D;P;D	0.89917	1.0;0.832;1.0	D;P;D	0.91635	0.999;0.741;0.998	T	0.80082	-0.1531	10	0.62326	D	0.03	-20.0851	16.8222	0.85835	1.0:0.0:0.0:0.0	.	516;516;516	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	G	516	ENSP00000359000:E516G	ENSP00000359000:E516G	E	+	2	0	GBF1	104111523	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.305000	0.96197	2.371000	0.80710	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	1	57	304	0	88	1	9.999910e-01	30	63	0	88	2		0	0	0	0	0	2	1	1	55	300	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBF1	8729	broad.mit.edu	37	10	104136495	104136495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136495C>A	ENST00000369983.3	+	32	4483	c.4223C>A	c.(4222-4224)cCt>cAt	p.P1408H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1			71		Colorectal(252;0.0236)			CACATCACACCTGACAACTTT	0.552000																								0							SO:0001583	missense			ENST00000369983.3	1	1	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582242	0.86748	.	.	ENSG00000107862	ENST00000369983	T	0.34667	1.35	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.96	T	0.70769	-0.4782	10	0.87932	D	0	-11.9933	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1408;1408;1408	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1408	ENSP00000359000:P1408H	ENSP00000359000:P1408H	P	+	2	0	GBF1	104126485	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	1	78	324	0	67	1	1	26	124	0	67	2		0	0	0	0	0	2	1	1	78	319	0	66	2								-3.298594	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBF1	8729	broad.mit.edu	37	10	104136509	104136509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136509C>T	ENST00000369983.3	+	32	4497	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1			71		Colorectal(252;0.0236)			CAACTTTGAGCTCTGCGTCAA	0.547000																								0							SO:0001583	missense			ENST00000369983.3	1	1	hg19	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032462	0.54790	.	.	ENSG00000107862	ENST00000369983	T	0.11495	2.77	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.995	P;P;P	0.59221	0.854;0.733;0.795	T	0.04551	-1.0943	10	0.09843	T	0.71	-13.8769	18.4763	0.90793	0.0:1.0:0.0:0.0	.	1413;1413;1413	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	1413	ENSP00000359000:L1413F	ENSP00000359000:L1413F	L	+	1	0	GBF1	104126499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.598000	0.87819	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	1	64	276	0	58	1	1	29	99	0	58	2		0	0	0	0	0	2	1	1	64	272	0	57	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFKB2	4791	broad.mit.edu	37	10	104156690	104156690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104156690C>T	ENST00000369966.3	+	6	523	c.273C>T	c.(271-273)atC>atT	p.I91I	NFKB2_ENST00000189444.6_Silent_p.I91I|NFKB2_ENST00000428099.1_Silent_p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			23		Colorectal(252;0.00957)		Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CAGCCAAGATCGAGGTGGACC	0.597000			T	IGH@	B-NHL										Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0							SO:0001819	synonymous_variant			ENST00000369966.3	1	1	hg19	CCDS41564.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2	1	0	1	41	173	0	49	1	1	90	180	0	49	2		0	0	0	0	0	2	1	1	39	172	0	48	2								-20.000000	1	1	121028	3	33	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFKB2	4791	broad.mit.edu	37	10	104157352	104157352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104157352C>T	ENST00000369966.3	+	8	821	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	NFKB2_ENST00000189444.6_Missense_Mutation_p.R191W|NFKB2_ENST00000428099.1_Missense_Mutation_p.R191W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			23		Colorectal(252;0.00957)		Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GAGTATAGTGCGGCTGCGCTT	0.582000			T	IGH@	B-NHL										Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0							SO:0001583	missense			ENST00000369966.3	0	1	hg19	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593452	0.66219	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.61859	0.07;0.07;0.07	4.95	4.03	0.46877	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84191	0.0445	10	0.87932	D	0	.	14.3684	0.66823	0.1573:0.8427:0.0:0.0	.	191;191;191	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	W	191	ENSP00000410256:R191W;ENSP00000358983:R191W;ENSP00000189444:R191W	ENSP00000189444:R191W	R	+	1	2	NFKB2	104147342	0.838000	0.29461	0.935000	0.37517	0.928000	0.56348	1.063000	0.30567	1.035000	0.39972	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2	0	0	0	20	1173	0	196	1	9.441080e-01	7	277	0	196	2		0	0	0	0	0	2	1	9.999941e-01	20	1156	0	193	2								-2.430630	0	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.200000	0.120000	1.000000	0.200000	0.271788	0.200000	0	1.500000e-01	2.700000e-01
CUEDC2	79004	broad.mit.edu	37	10	104183780	104183780	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104183780C>T	ENST00000369937.4	-	6	712	c.567G>A	c.(565-567)ggG>ggA	p.G189G	CUEDC2_ENST00000465409.1_5'UTR|PSD_ENST00000492902.2_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2			8		Colorectal(252;0.122)			AGGCTGCAGGCCCCTCTTCCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000369937.4	1	1	hg19	CCDS41566.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	1	0	1	50	226	0	41	1	1	96	269	0	41	2		0	0	0	0	0	2	1	1	50	221	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM180	79847	broad.mit.edu	37	10	104230514	104230514	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104230514C>T	ENST00000238936.4	+	5	581	c.344C>T	c.(343-345)gCg>gTg	p.A115V	TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180			13		Colorectal(252;0.122)			TCGTTCCTGGCGTTCTGGGTG	0.692000																								0							SO:0001583	missense			ENST00000238936.4	1	1	hg19	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537501	0.45176	.	.	ENSG00000138111	ENST00000238936	D	0.83163	-1.69	5.29	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);	0.048256	0.85682	N	0.000000	T	0.78368	0.4272	L	0.55481	1.735	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.71876	-0.4460	10	0.19590	T	0.45	.	13.7692	0.63015	0.0:0.9256:0.0:0.0744	.	115	Q14CX5	TM180_HUMAN	V	115	ENSP00000238936:A115V	ENSP00000238936:A115V	A	+	2	0	TMEM180	104220504	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	4.901000	0.63259	1.220000	0.43490	0.511000	0.50034	GCG		TCGA-IB-7651-01A-11D-2154-08	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	1	0	0	182	697	0	142	1	8.931257e-01	2	15	0	142	2		0	0	0	0	0	2	1	1	180	690	0	141	2								-20.000000	1	1	121406	1	36	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUFU	51684	broad.mit.edu	37	10	104352378	104352378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104352378G>T	ENST00000369902.3	+	4	660	c.494G>T	c.(493-495)aGc>aTc	p.S165I	SUFU_ENST00000369899.2_Missense_Mutation_p.S165I|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.S165I	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)			24		Colorectal(252;0.207)			TCCTGGCACAGCCCTTTGGAT	0.542000			D, F, S		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0							SO:0001583	missense	Familial Cancer Database		ENST00000369902.3	1	1	hg19	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727188	0.89390	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.82711	-1.64;-1.64;-1.64	5.35	5.35	0.76521	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	L	0.52573	1.65	0.80722	D	1	D;D;D	0.60575	0.985;0.982;0.988	P;P;P	0.49047	0.599;0.464;0.533	D	0.84571	0.0655	10	0.45353	T	0.12	-21.1564	19.0711	0.93136	0.0:0.0:1.0:0.0	.	165;165;165	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	I	165	ENSP00000358918:S165I;ENSP00000358915:S165I;ENSP00000411597:S165I	ENSP00000358915:S165I	S	+	2	0	SUFU	104342368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.506000	0.84524	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	1	0	1	122	482	0	140	1	9.725133e-01	4	21	0	140	2		0	0	0	0	0	2	1	1	121	476	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM8	81603	broad.mit.edu	37	10	104416127	104416127	+	Missense_Mutation	SNP	C	C	T	rs145135383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104416127C>T	ENST00000302424.7	+	5	1155	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8			15		Colorectal(252;0.122)			GAAGCAGCTGCGGAAAATGCT	0.597000																								0							SO:0001583	missense			ENST00000302424.7	1	1	hg19	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842550	0.71488	0.0	1.16E-4	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.79653	-1.29	5.41	3.37	0.38596	.	0.104805	0.64402	D	0.000004	T	0.75961	0.3921	N	0.24115	0.695	0.46185	D	0.998918	D	0.69078	0.997	P	0.50378	0.639	T	0.79806	-0.1648	10	0.66056	D	0.02	.	14.8214	0.70077	0.3272:0.6728:0.0:0.0	.	345	Q9BZR9	TRIM8_HUMAN	W	345;344	ENSP00000302120:R345W	ENSP00000302120:R345W	R	+	1	2	TRIM8	104406117	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.883000	0.28200	1.259000	0.44117	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	1	0	1	24	100	0	37	1	1	78	279	0	37	2		0	0	0	0	0	2	1	9.999998e-01	24	97	0	36	2								-20.000000	1	1	121410	1	28	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
CYP17A1	1586	broad.mit.edu	37	10	104594579	104594579	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104594579C>A	ENST00000369887.3	-	3	800	c.629G>T	c.(628-630)aGc>aTc	p.S210I	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1			18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GCTGTCTTTGCTCAGGTTGTC	0.483000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000369887.3	1	1	hg19	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	c	17.74	3.464642	0.63513	.	.	ENSG00000148795	ENST00000369887	T	0.70045	-0.45	5.8	-5.97	0.02227	.	0.583949	0.18293	N	0.145653	T	0.54549	0.1865	L	0.39147	1.195	0.09310	N	1	P	0.38565	0.637	P	0.47705	0.555	T	0.52704	-0.8540	10	0.48119	T	0.1	.	3.7562	0.08586	0.0791:0.2916:0.1865:0.4427	.	210	P05093	CP17A_HUMAN	I	210	ENSP00000358903:S210I	ENSP00000358903:S210I	S	-	2	0	CYP17A1	104584569	0.453000	0.25721	0.000000	0.03702	0.002000	0.02628	1.205000	0.32308	-0.686000	0.05170	-0.358000	0.07595	AGC		TCGA-IB-7651-01A-11D-2154-08	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	1	0	1	74	389	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	71	382	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AS3MT	57412	broad.mit.edu	37	10	104650340	104650340	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104650340A>G	ENST00000369880.3	+	10	1002	c.925A>G	c.(925-927)Atc>Gtc	p.I309V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase			7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)			AACAGCAGCTATCTTGAAGAA	0.358000																								0							SO:0001583	missense			ENST00000369880.3	1	1	hg19	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935135	0.34189	.	.	ENSG00000214435	ENST00000369880	T	0.23552	1.9	5.08	1.25	0.21368	.	0.103406	0.64402	N	0.000005	T	0.23451	0.0567	M	0.62209	1.925	0.25357	N	0.988814	B;B;B	0.22746	0.074;0.044;0.044	B;B;B	0.21917	0.037;0.026;0.026	T	0.17471	-1.0368	9	0.38643	T	0.18	-5.2001	8.5109	0.33217	0.7531:0.0:0.2469:0.0	.	309;309;309	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	V	309	ENSP00000358896:I309V	ENSP00000358896:I309V	I	+	1	0	AS3MT	104640330	0.412000	0.25392	0.952000	0.39060	0.984000	0.73092	-0.020000	0.12525	0.320000	0.23234	0.413000	0.27773	ATC		TCGA-IB-7651-01A-11D-2154-08	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	1	0	1	103	382	0	72	1	9.824002e-01	5	21	0	72	2		0	0	0	0	0	2	1	1	101	369	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNNM2	54805	broad.mit.edu	37	10	104679703	104679703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679703C>T	ENST00000369878.4	+	1	1654	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F|CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2			19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)			GGGGAGCGCTCCAATATCGTG	0.517000																								0							SO:0001583	missense			ENST00000369878.4	1	1	hg19	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917192	0.52546	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	5.09	0.68999	Cystathionine beta-synthase, core (1);	0.104424	0.64402	D	0.000002	D	0.90256	0.6953	M	0.90759	3.145	0.80722	D	1	P;P;D	0.64830	0.933;0.932;0.994	P;P;D	0.70227	0.77;0.593;0.968	D	0.92372	0.5906	10	0.87932	D	0	.	18.475	0.90790	0.0:1.0:0.0:0.0	.	489;489;489	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	F	489	ENSP00000392875:S489F;ENSP00000358891:S489F;ENSP00000358894:S489F	ENSP00000286899:S489F	S	+	2	0	CNNM2	104669693	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.696000	0.61774	2.343000	0.79666	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	1	0	1	71	369	0	113	1	9.999037e-01	21	51	0	113	2		0	0	0	0	0	2	1	1	71	363	0	111	2								-3.231241	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNNM2	54805	broad.mit.edu	37	10	104679834	104679834	+	Missense_Mutation	SNP	G	G	A	rs146507239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679834G>A	ENST00000369878.4	+	1	1785	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T|CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2			19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)			CAAGTTGGACGCTATGCTGGA	0.463000																								0							SO:0001583	missense			ENST00000369878.4	1	1	hg19	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599526	0.46318	2.27E-4	0.0	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;T;D	0.93426	-3.22;-0.99;-3.22	5.55	5.55	0.83447	Cystathionine beta-synthase, core (1);	0.103082	0.64402	D	0.000004	D	0.89420	0.6710	N	0.10916	0.065	0.58432	D	0.999999	B;B;D	0.56968	0.027;0.075;0.978	B;B;P	0.50049	0.024;0.011;0.629	D	0.87620	0.2509	10	0.16896	T	0.51	.	19.4871	0.95033	0.0:0.0:1.0:0.0	.	533;533;533	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	T	533	ENSP00000392875:A533T;ENSP00000358891:A533T;ENSP00000358894:A533T	ENSP00000286899:A533T	A	+	1	0	CNNM2	104669824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.750000	0.74888	2.604000	0.88044	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	1	0	1	83	718	0	152	1	9.911737e-01	11	53	0	152	2		0	0	0	0	0	2	1	1	81	702	0	149	2								-19.999980	1	1	121412	4	39	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998938	0.990000	1	9.900000e-01	1
CNNM2	54805	broad.mit.edu	37	10	104836929	104836929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104836929G>A	ENST00000369878.4	+	8	2808	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2			19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)			CAACGAAGGCGCCATCTAGGC	0.652000																								0							SO:0001583	missense			ENST00000369878.4	1	1	hg19	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049847	0.75846	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.74737	-0.87	5.69	5.69	0.88448	.	0.119569	0.56097	D	0.000025	T	0.55561	0.1928	N	0.14661	0.345	0.39100	D	0.961268	P;P	0.42871	0.792;0.688	B;B	0.31245	0.126;0.059	T	0.66424	-0.5927	10	0.59425	D	0.04	.	15.2976	0.73922	0.0:0.1395:0.8605:0.0	.	852;874	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	T	875;853;874;852;573	ENSP00000358894:A874T	ENSP00000286899:A852T	A	+	1	0	CNNM2	104826919	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	2.188000	0.42612	2.677000	0.91161	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	1	0	1	57	296	1	78	0	7.900591e-01	1	24	1	78	3		0	0	0	0	0	2	1	9.999999e-01	56	288	1	77	16								-20.000000	1	0	121068	1	32	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INA	9118	broad.mit.edu	37	10	105036934	105036934	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105036934G>A	ENST00000369849.4	+	0	15					NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha			13					TGTAGCTCGCGTTGAAGCCGC	0.716000																								0											ENST00000369849.4	0	1	hg19	CCDS7545.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	0	0	0	39	133	0	23	0	0	0	1	0	23	2		0	0	0	0	0	2	1	1	38	130	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INA	9118	broad.mit.edu	37	10	105037253	105037253	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105037253G>T	ENST00000369849.4	+	1	334	c.285G>T	c.(283-285)aaG>aaT	p.K95N		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha			13					CCAACGAGAAGGAGCAGCTGC	0.687000																								0							SO:0001583	missense			ENST00000369849.4	1	1	hg19	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949929	0.73787	.	.	ENSG00000148798	ENST00000369849	D	0.93547	-3.24	4.03	2.15	0.27550	Filament (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.98883	4.36	0.45704	D	0.998619	D	0.89917	1.0	D	0.79108	0.992	D	0.96865	0.9635	10	0.87932	D	0	.	9.5962	0.39576	0.1916:0.0:0.8084:0.0	.	95	Q16352	AINX_HUMAN	N	95	ENSP00000358865:K95N	ENSP00000358865:K95N	K	+	3	2	INA	105027243	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.345000	0.65987	1.032000	0.39892	0.462000	0.41574	AAG		TCGA-IB-7651-01A-11D-2154-08	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	1	0	1	26	183	0	29	0	1.690065e-02	0	2	0	29	2		0	0	0	0	0	2	1	9.999999e-01	26	182	0	29	2								-3.222976	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998343	0.990000	1	9.900000e-01	1
PCGF6	84108	broad.mit.edu	37	10	105063703	105063703	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105063703G>T	ENST00000369847.3	-	10	1079	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6			8		Colorectal(252;0.0747)|Breast(234;0.128)			CCATAATGAAGGACAAGCAGA	0.408000																								0							SO:0001583	missense			ENST00000369847.3	1	1	hg19	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921880	0.73213	.	.	ENSG00000156374	ENST00000369847;ENST00000337211	T;T	0.56275	0.48;0.47	5.34	5.34	0.76211	.	0.066550	0.64402	N	0.000008	T	0.75177	0.3814	M	0.86651	2.83	0.31572	N	0.656259	D;D	0.67145	0.996;0.993	D;D	0.73708	0.978;0.981	T	0.80808	-0.1217	10	0.72032	D	0.01	.	14.5467	0.68035	0.0:0.0:1.0:0.0	.	263;338	Q9BYE7-3;Q9BYE7	.;PCGF6_HUMAN	I	338;263	ENSP00000358862:L338I;ENSP00000338845:L263I	ENSP00000338845:L263I	L	-	1	0	PCGF6	105053693	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	5.024000	0.64090	2.510000	0.84645	0.555000	0.69702	CTT		TCGA-IB-7651-01A-11D-2154-08	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	0	0	0	12	361	1	91	0	1.436695e-01	1	36	1	91	3		0	0	0	0	0	2	0	3.373311e-01	12	358	1	91	15								-2.866460	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.400000	0.210000	1.000000	0.380000	0.454234	0.400000	0	2.900000e-01	5.600000e-01
USMG5	84833	broad.mit.edu	37	10	105152192	105152192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105152192G>A	ENST00000369825.1	-	3	505	c.23C>T	c.(22-24)gCg>gTg	p.A8V	USMG5_ENST00000369815.1_Missense_Mutation_p.A8V|USMG5_ENST00000369811.1_Missense_Mutation_p.A8V|MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V|USMG5_ENST00000309579.3_Missense_Mutation_p.A8V			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)			1		Colorectal(252;0.142)			CTGGTATTGCGCATCACTTTC	0.279000																								0							SO:0001583	missense			ENST00000369825.1	1	1	hg19	CCDS7548.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459732	0.12342	.	.	ENSG00000173915	ENST00000369825;ENST00000369815;ENST00000309579;ENST00000337003;ENST00000369811	.	.	.	6.17	3.11	0.35812	.	0.553031	0.17366	N	0.176845	T	0.37293	0.0998	.	.	.	0.18873	N	0.999986	B	0.15473	0.013	B	0.06405	0.002	T	0.21861	-1.0233	8	0.35671	T	0.21	.	14.0578	0.64781	0.0:0.3137:0.5913:0.095	.	8	Q96IX5	USMG5_HUMAN	V	8	.	ENSP00000311245:A8V	A	-	2	0	USMG5	105142182	0.065000	0.20965	0.996000	0.52242	0.171000	0.22731	1.517000	0.35867	0.823000	0.34589	-0.152000	0.13540	GCG		TCGA-IB-7651-01A-11D-2154-08	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050142.1	1	0	1	36	176	0	33	1	1	174	492	0	33	2		0	0	0	0	0	2	1	1	36	175	0	33	2								-3.388119	1	1	121222	8	36	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PDCD11	22984	broad.mit.edu	37	10	105164918	105164918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105164918C>A	ENST00000369797.3	+	5	636	c.542C>A	c.(541-543)gCt>gAt	p.A181D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11			64		Colorectal(252;0.0747)|Breast(234;0.128)			GTGCTGAGTGCTGAGGCCCTG	0.562000																								0							SO:0001583	missense			ENST00000369797.3	1	1	hg19	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001566	0.74818	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17854	2.25	4.87	4.87	0.63330	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.239585	0.43579	D	0.000550	T	0.15176	0.0366	L	0.39898	1.24	0.52501	D	0.999958	B	0.34264	0.446	B	0.29524	0.103	T	0.06356	-1.0831	10	0.23302	T	0.38	-7.0362	17.6017	0.88027	0.0:1.0:0.0:0.0	.	181	Q14690	RRP5_HUMAN	D	181	ENSP00000358812:A181D	ENSP00000358812:A181D	A	+	2	0	PDCD11	105154908	0.934000	0.31675	0.999000	0.59377	0.986000	0.74619	7.337000	0.79256	2.272000	0.75746	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	1	0	1	64	376	0	86	1	9.833556e-01	5	35	0	86	2		0	0	0	0	0	2	1	1	64	370	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDCD11	22984	broad.mit.edu	37	10	105172912	105172912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105172912G>T	ENST00000369797.3	+	9	1112	c.1018G>T	c.(1018-1020)Gtt>Ttt	p.V340F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11			64		Colorectal(252;0.0747)|Breast(234;0.128)			TCGAACCAGAGTTGTGCACCT	0.592000																								0							SO:0001583	missense			ENST00000369797.3	1	1	hg19	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245882	0.39697	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.17691	2.26	5.47	2.35	0.29111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	1.035590	0.07544	N	0.914350	T	0.14874	0.0359	L	0.40543	1.245	0.19300	N	0.99998	B	0.32939	0.391	B	0.31390	0.129	T	0.25606	-1.0127	10	0.54805	T	0.06	0.4907	7.2346	0.26062	0.1581:0.0:0.6925:0.1493	.	340	Q14690	RRP5_HUMAN	F	340	ENSP00000358812:V340F	ENSP00000358812:V340F	V	+	1	0	PDCD11	105162902	0.988000	0.35896	0.845000	0.33349	0.961000	0.63080	2.276000	0.43408	1.313000	0.45069	0.467000	0.42956	GTT		TCGA-IB-7651-01A-11D-2154-08	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	1	0	1	39	368	0	78	1	9.875634e-01	3	64	0	78	2		0	0	0	0	0	2	1	1	38	359	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.830000	1.000000	1.000000	0.984571	0.990000	1	9.800000e-01	1
PDCD11	22984	broad.mit.edu	37	10	105177682	105177682	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105177682T>A	ENST00000369797.3	+	14	1998	c.1904T>A	c.(1903-1905)aTt>aAt	p.I635N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11			64		Colorectal(252;0.0747)|Breast(234;0.128)			GCCATTAACATTGGGCAGGTA	0.478000																								0							SO:0001583	missense			ENST00000369797.3	0	1	hg19	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	t	11.36	1.615988	0.28801	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10477	2.87	5.28	-1.54	0.08584	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);	1.092910	0.06925	N	0.810013	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41858	-0.9485	10	0.56958	D	0.05	-0.0027	6.3525	0.21383	0.1121:0.3566:0.0:0.5312	.	635	Q14690	RRP5_HUMAN	N	635	ENSP00000358812:I635N	ENSP00000358812:I635N	I	+	2	0	PDCD11	105167672	0.054000	0.20591	0.029000	0.17559	0.132000	0.20833	0.565000	0.23578	-0.229000	0.09854	-0.520000	0.04383	ATT		TCGA-IB-7651-01A-11D-2154-08	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	0	0	0	10	403	0	109	1	3.949729e-01	2	50	0	109	2		0	0	0	0	0	2	1	9.966020e-01	10	394	0	108	2								-9.746102	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.300000	0.150000	1.000000	0.290000	0.366698	0.300000	0	2.100000e-01	4.400000e-01
PDCD11	22984	broad.mit.edu	37	10	105198541	105198541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105198541T>C	ENST00000369797.3	+	27	4095	c.4001T>C	c.(4000-4002)aTc>aCc	p.I1334T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11			64		Colorectal(252;0.0747)|Breast(234;0.128)			GTAGGGTCCATCCAGCCACAC	0.552000																								0							SO:0001583	missense			ENST00000369797.3	1	1	hg19	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025769	0.35701	.	.	ENSG00000148843	ENST00000369797	T	0.21031	2.03	5.62	5.62	0.85841	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.295434	0.37053	N	0.002264	T	0.23094	0.0558	L	0.53729	1.69	0.09310	N	1	B	0.32717	0.381	B	0.30029	0.11	T	0.14090	-1.0485	10	0.44086	T	0.13	-3.134	15.8248	0.78690	0.0:0.0:0.0:1.0	.	1334	Q14690	RRP5_HUMAN	T	1334	ENSP00000358812:I1334T	ENSP00000358812:I1334T	I	+	2	0	PDCD11	105188531	0.846000	0.29590	0.017000	0.16124	0.003000	0.03518	6.593000	0.74100	2.140000	0.66376	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	1	0	1	35	373	0	93	1	9.749230e-01	14	51	0	93	2		0	0	0	0	0	2	1	1	35	370	0	93	2								-10.911390	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.730000	1.000000	1.000000	0.953376	0.990000	1	8.700000e-01	1
CALHM2	51063	broad.mit.edu	37	10	105206962	105206962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105206962C>T	ENST00000260743.5	-	4	1442	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T|RP11-225H22.7_ENST00000608063.1_RNA	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2			11					CCGTTGCCTGCCAGACCCTGG	0.617000																								0							SO:0001583	missense			ENST00000260743.5	1	1	hg19	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723844	0.48728	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17054	2.3;2.3	5.52	-1.14	0.09741	.	1.268130	0.05081	N	0.483424	T	0.09291	0.0229	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36625	-0.9740	10	0.14656	T	0.56	0.0966	7.019	0.24904	0.0:0.3498:0.1218:0.5285	.	307	Q9HA72	CAHM2_HUMAN	T	307	ENSP00000358803:A307T;ENSP00000260743:A307T	ENSP00000260743:A307T	A	-	1	0	CALHM2	105196952	0.000000	0.05858	0.018000	0.16275	0.710000	0.40934	-0.403000	0.07214	-0.220000	0.09988	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	1	0	1	79	284	0	78	1	1	5	106	0	78	2		0	0	0	0	0	2	1	1	77	280	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CALHM2	51063	broad.mit.edu	37	10	105207135	105207135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105207135C>T	ENST00000260743.5	-	4	1269	c.746G>A	c.(745-747)cGc>cAc	p.R249H	CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H|RP11-225H22.7_ENST00000608063.1_RNA	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2			11					GCCAAAGAAGCGGCGCACATT	0.612000																								0							SO:0001583	missense			ENST00000260743.5	1	1	hg19	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341551	0.61073	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.17213	2.29;2.29	5.37	4.45	0.53987	.	0.340884	0.32002	N	0.006726	T	0.10723	0.0262	N	0.13098	0.295	0.80722	D	1	P	0.37441	0.595	B	0.40199	0.322	T	0.17077	-1.0381	10	0.41790	T	0.15	-18.0115	6.8321	0.23915	0.0:0.6943:0.0:0.3057	.	249	Q9HA72	CAHM2_HUMAN	H	249	ENSP00000358803:R249H;ENSP00000260743:R249H	ENSP00000260743:R249H	R	-	2	0	CALHM2	105197125	0.861000	0.29849	1.000000	0.80357	0.990000	0.78478	1.495000	0.35627	1.251000	0.43983	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	0	0	0	18	383	0	72	0	8.298538e-01	0	71	0	72	2		0	0	0	0	0	2	1	9.999802e-01	18	377	0	72	2								-3.091958	1	1	121412	3	34	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.550000	0.330000	1.000000	0.530000	0.589023	0.550000	0	4.300000e-01	7.300000e-01
CALHM1	255022	broad.mit.edu	37	10	105218206	105218206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218206G>T	ENST00000329905.5	-	1	439	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1			9					GGGCCATGGAGCAGAACATGT	0.657000																								0							SO:0001587	stop_gained			ENST00000329905.5	0	1	hg19	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642628	0.96704	.	.	ENSG00000185933	ENST00000329905	.	.	.	5.38	1.36	0.22044	.	0.102535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.3187	9.1978	0.37240	0.4035:0.0:0.5965:0.0	.	.	.	.	X	101	.	ENSP00000329926:C101X	C	-	3	2	CALHM1	105208196	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.880000	0.28159	0.407000	0.25591	0.491000	0.48974	TGC		TCGA-IB-7651-01A-11D-2154-08	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	1	0	1	52	224	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	52	222	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CALHM1	255022	broad.mit.edu	37	10	105218421	105218421	+	Missense_Mutation	SNP	C	C	T	rs146465393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218421C>T	ENST00000329905.5	-	1	224	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1			9					TGGGCACTGGCCAGGGCCATG	0.612000																								0							SO:0001583	missense			ENST00000329905.5	1	1	hg19	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572932	0.96553	0.0	0.001047	ENSG00000185933	ENST00000329905	T	0.20332	2.08	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49103	-0.8974	10	0.66056	D	0.02	-31.676	18.5069	0.90901	0.0:1.0:0.0:0.0	.	30	Q8IU99	CAHM1_HUMAN	T	30	ENSP00000329926:A30T	ENSP00000329926:A30T	A	-	1	0	CALHM1	105208411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.332000	0.79203	2.619000	0.88677	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	1	0	1	57	240	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	57	239	0	48	2								-3.334722	1	1	121412	41	46	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3PXD2A	9644	broad.mit.edu	37	10	105362601	105362601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362601G>T	ENST00000369774.4	-	15	2650	c.2374C>A	c.(2374-2376)Ctc>Atc	p.L792I	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A			38		Colorectal(252;0.0815)|Breast(234;0.131)			GAGCCCTTGAGCCCTCCACGG	0.612000																								0							SO:0001583	missense			ENST00000369774.4	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.19|12.19	1.862342|1.862342	0.32884|0.32884	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.59224	.|0.39;0.33;0.49;0.28	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.056930	.|0.64402	.|D	.|0.000001	T|T	0.66761|0.66761	0.2822|0.2822	L|L	0.32530|0.32530	0.975|0.975	0.37370|0.37370	D|D	0.911607|0.911607	.|D;D;D;D	.|0.71674	.|0.997;0.997;0.998;0.998	.|D;D;D;D	.|0.77557	.|0.978;0.978;0.984;0.99	T|T	0.66842|0.66842	-0.5821|-0.5821	5|10	.|0.27785	.|T	.|0.31	-25.5521|-25.5521	18.5141|18.5141	0.90930|0.90930	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|792;641;637;764	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	D|I	718|792;764;599;707;659;627	.|ENSP00000358789:L792I;ENSP00000348215:L764I;ENSP00000443663:L659I;ENSP00000441514:L627I	.|ENSP00000318135:L599I	A|L	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352591|105352591	0.997000|0.997000	0.39634|0.39634	0.974000|0.974000	0.42286|0.42286	0.356000|0.356000	0.29392|0.29392	2.362000|2.362000	0.44169|0.44169	2.373000|2.373000	0.80994|0.80994	0.555000|0.555000	0.69702|0.69702	GCT|CTC		TCGA-IB-7651-01A-11D-2154-08	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	1	0	1	261	1143	0	242	1	1	10	129	0	242	2		0	0	0	0	0	2	1	1	256	1127	0	239	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3PXD2A	9644	broad.mit.edu	37	10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A			38		Colorectal(252;0.0815)|Breast(234;0.131)			AGCTGGCGCCGTAAAGTGCTG	0.647000																								0							SO:0001583	missense			ENST00000369774.4	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.972366|2.972366	0.53614|0.53614	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.65916|.	-0.17;-0.14;0.02;-0.18|.	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.993;0.993;0.995;0.997|.	T|T	0.60393|0.60393	-0.7272|-0.7272	10|5	0.54805|.	T|.	0.06|.	-25.6182|-25.6182	13.4768|13.4768	0.61314|0.61314	0.0:0.0:0.7006:0.2994|0.0:0.0:0.7006:0.2994	.|.	779;628;624;751|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	W|M	779;751;586;694;646;614|705	ENSP00000358789:R779W;ENSP00000348215:R751W;ENSP00000443663:R646W;ENSP00000441514:R614W|.	ENSP00000318135:R586W|.	R|T	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105352630|105352630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.736000|1.736000	0.38187|0.38187	1.107000|1.107000	0.41642|0.41642	0.561000|0.561000	0.74099|0.74099	CGG|ACG		TCGA-IB-7651-01A-11D-2154-08	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	1	0	1	316	1417	0	304	1	1	11	120	0	304	2		0	0	0	0	0	2	1	1	309	1387	0	290	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3PXD2A	9644	broad.mit.edu	37	10	105363480	105363480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105363480C>T	ENST00000369774.4	-	15	1771	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A			38		Colorectal(252;0.0815)|Breast(234;0.131)			ATGTATGATGCGGGGGCCCAG	0.622000																								0							SO:0001583	missense			ENST00000369774.4	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.493212|3.493212	0.64186|0.64186	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Src homology-3 domain (4);|.	0.205803|.	0.51477|.	D|.	0.000089|.	T|T	0.71995|0.71995	0.3406|0.3406	M|M	0.67397|0.67397	2.05|2.05	0.39466|0.39466	D|D	0.967659|0.967659	P;D;D;D|.	0.65815|.	0.941;0.995;0.995;0.994|.	P;D;D;P|.	0.65573|.	0.577;0.936;0.913;0.861|.	T|T	0.72374|0.72374	-0.4313|-0.4313	10|5	0.34782|.	T|.	0.22|.	-19.4094|-19.4094	14.3946|14.3946	0.67003|0.67003	0.1477:0.8523:0.0:0.0|0.1477:0.8523:0.0:0.0	.|.	499;348;344;471|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	499;471;306;414;366;334|425	ENSP00000358789:A499T;ENSP00000348215:A471T;ENSP00000443663:A366T;ENSP00000441514:A334T|.	ENSP00000318135:A306T|.	A|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105353470|105353470	0.994000|0.994000	0.37717|0.37717	0.175000|0.175000	0.22980|0.22980	0.919000|0.919000	0.55068|0.55068	3.182000|3.182000	0.50910|0.50910	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	1	0	1	33	301	0	70	1	9.557771e-01	3	46	0	70	2		0	0	0	0	0	2	1	1	33	299	0	70	2								-2.690405	1	1	121376	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.830000	1.000000	1.000000	0.986269	0.990000	1	9.900000e-01	1
SH3PXD2A	9644	broad.mit.edu	37	10	105372695	105372695	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105372695G>A	ENST00000369774.4	-	12	1449	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000540321.1_Silent_p.A258A|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A|SH3PXD2A_ENST00000538130.1_Silent_p.A226A			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A			38		Colorectal(252;0.0815)|Breast(234;0.131)			GAACGCCCACGGCACTGCCAT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000369774.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	0.128	-1.116878	0.01799	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.67	-4.99	0.03010	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37888	-0.9686	4	.	.	.	-23.192	1.2954	0.02068	0.3276:0.1575:0.3404:0.1745	.	.	.	.	C	318	.	.	R	-	1	0	SH3PXD2A	105362685	0.015000	0.18098	0.389000	0.26208	0.029000	0.11900	-0.088000	0.11198	-0.711000	0.04995	-2.189000	0.00312	CGT		TCGA-IB-7651-01A-11D-2154-08	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	1	0	0	13	301	0	43	1	8.393748e-01	3	76	0	43	2		0	0	0	0	0	2	1	9.995422e-01	14	298	0	43	2								-14.017090	1	1	121410	6	37	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.510000	0.280000	1.000000	0.480000	0.556808	0.510000	0	3.800000e-01	7.100000e-01
OBFC1	79991	broad.mit.edu	37	10	105657393	105657393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105657393C>T	ENST00000224950.3	-	7	833	c.666G>A	c.(664-666)caG>caA	p.Q222Q	OBFC1_ENST00000369764.1_Silent_p.Q222Q|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1			13		Colorectal(252;0.178)			GGTAAAAGCTCTGCACTCTGT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000224950.3	1	1	hg19	CCDS7552.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	1	0	0	77	326	0	72	1	1	60	173	0	72	2		0	0	0	0	0	2	1	1	76	320	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBFC1	79991	broad.mit.edu	37	10	105670293	105670293	+	Missense_Mutation	SNP	C	C	A	rs147663272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105670293C>A	ENST00000224950.3	-	3	388	c.221G>T	c.(220-222)aGt>aTt	p.S74I	OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1			13		Colorectal(252;0.178)			ACCTCCATAACTGTAGAAAGC	0.393000																								0							SO:0001583	missense			ENST00000224950.3	1	1	hg19	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022059	0.35701	0.0	1.16E-4	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.22336	1.96;1.96	5.47	2.36	0.29203	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.159693	0.64402	N	0.000001	T	0.15955	0.0384	L	0.39245	1.2	0.41782	D	0.989827	B	0.18461	0.028	B	0.15052	0.012	T	0.06661	-1.0814	10	0.32370	T	0.25	-1.2429	9.8972	0.41327	0.4001:0.4793:0.1205:0.0	.	74	Q9H668	STN1_HUMAN	I	74	ENSP00000224950:S74I;ENSP00000358779:S74I	ENSP00000224950:S74I	S	-	2	0	OBFC1	105660283	0.976000	0.34144	0.998000	0.56505	0.779000	0.44077	0.099000	0.15210	0.750000	0.32877	0.557000	0.71058	AGT		TCGA-IB-7651-01A-11D-2154-08	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	1	0	1	42	191	0	45	1	1	72	149	0	45	2		0	0	0	0	0	2	1	1	42	189	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLK	9748	broad.mit.edu	37	10	105761972	105761972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105761972G>A	ENST00000369755.3	+	9	1581	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	SLK_ENST00000335753.4_Missense_Mutation_p.A346T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase			8		Colorectal(252;0.178)			CCTTAGTATCGCCAGCTCTGA	0.353000													NSCLC(111;540 1651 1927 4474 17706)											0							SO:0001583	missense			ENST00000369755.3	1	1	hg19	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759677	0.69763	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.24538	1.85;1.85	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.060003	0.64402	D	0.000003	T	0.49558	0.1564	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.955;0.99	T	0.33394	-0.9870	10	0.42905	T	0.14	.	19.5347	0.95244	0.0:0.0:1.0:0.0	.	346;346	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	346	ENSP00000336824:A346T;ENSP00000358770:A346T	ENSP00000336824:A346T	A	+	1	0	SLK	105751962	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.320000	0.96346	2.622000	0.88805	0.455000	0.32223	GCC		TCGA-IB-7651-01A-11D-2154-08	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	1	0	1	92	452	0	112	1	1	66	135	0	112	2		0	0	0	0	0	2	1	1	90	446	0	111	2								-3.334979	1	1	121412	3	36	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLK	9748	broad.mit.edu	37	10	105779604	105779604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105779604G>A	ENST00000369755.3	+	16	3790	c.3245G>A	c.(3244-3246)cGa>cAa	p.R1082Q	SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase			8		Colorectal(252;0.178)			GCCAAGACTCGAATGGCCATG	0.403000													NSCLC(111;540 1651 1927 4474 17706)											0							SO:0001583	missense			ENST00000369755.3	1	1	hg19	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	36	5.906712	0.97093	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.34472	1.36;1.36	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72792	-0.4186	10	0.87932	D	0	.	19.8949	0.96954	0.0:0.0:1.0:0.0	.	1051;1082	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	1051;1082	ENSP00000336824:R1051Q;ENSP00000358770:R1082Q	ENSP00000336824:R1051Q	R	+	2	0	SLK	105769594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.712000	0.92718	0.484000	0.47621	CGA		TCGA-IB-7651-01A-11D-2154-08	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	0	0	1	127	550	1	119	1	1	161	263	1	119	14		0	0	0	0	0	2	1	1	123	539	1	118	19								-3.426419	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL17A1	1308	broad.mit.edu	37	10	105801279	105801279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105801279C>T	ENST00000353479.5	-	37	2859	c.2569G>A	c.(2569-2571)Ggt>Agt	p.G857S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1			62		Colorectal(252;0.103)|Breast(234;0.122)			CCTGGGGGACCTTGTAAATTA	0.522000																								0							SO:0001583	missense			ENST00000353479.5	1	1	hg19	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188459	0.78789	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.98105	-4.72;-4.72	4.66	4.66	0.58398	.	0.000000	0.47455	D	0.000224	D	0.98836	0.9607	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99013	1.0815	10	0.87932	D	0	-8.0688	13.4278	0.61037	0.0:1.0:0.0:0.0	.	857	Q9UMD9	COHA1_HUMAN	S	857	ENSP00000340937:G857S;ENSP00000358748:G857S	ENSP00000340937:G857S	G	-	1	0	COL17A1	105791269	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.833000	0.62766	2.638000	0.89438	0.491000	0.48974	GGT		TCGA-IB-7651-01A-11D-2154-08	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	1	0	1	27	147	0	32	1	9.997887e-01	76	0	0	32	2		0	0	0	0	0	2	1	1	25	145	0	32	2								-3.176565	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999926	0.990000	1	9.900000e-01	1
COL17A1	1308	broad.mit.edu	37	10	105813871	105813871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105813871G>A	ENST00000353479.5	-	21	2040	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*|COL17A1_ENST00000480127.1_5'Flank	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1			62		Colorectal(252;0.103)|Breast(234;0.122)			GGGAACCCTCGATCTCCTGCA	0.532000																								0							SO:0001587	stop_gained			ENST00000353479.5	0	1	hg19	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775084	0.96922	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	.	.	.	4.98	3.03	0.35002	.	0.194758	0.25230	N	0.032179	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.486	11.3663	0.49673	0.0:0.0:0.6726:0.3274	.	.	.	.	X	584;584;568	.	ENSP00000340937:R584X	R	-	1	2	COL17A1	105803861	0.756000	0.28383	0.090000	0.20809	0.101000	0.19017	1.045000	0.30341	1.087000	0.41251	-0.475000	0.04921	CGA		TCGA-IB-7651-01A-11D-2154-08	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	1	0	1	11	51	0	16	1	9.999997e-01	2	184	0	16	2		0	0	0	0	0	2	1	9.981439e-01	11	46	0	16	2								-19.887580	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998307	0.990000	1	9.900000e-01	1
COL17A1	1308	broad.mit.edu	37	10	105836072	105836072	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105836072G>T	ENST00000353479.5	-	5	608	c.318C>A	c.(316-318)cgC>cgA	p.R106R	COL17A1_ENST00000393211.3_Silent_p.R106R|COL17A1_ENST00000369733.3_Silent_p.R106R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1			62		Colorectal(252;0.103)|Breast(234;0.122)			CATACGCATGGCGGGTAACGT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000353479.5	1	1	hg19	CCDS7554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	1	0	1	127	481	0	76	1	1	6	164	0	76	2		0	0	0	0	0	2	1	1	124	462	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSTO2	119391	broad.mit.edu	37	10	106037862	106037862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106037862G>A	ENST00000338595.2	+	4	674	c.354G>A	c.(352-354)gaG>gaA	p.E118E	GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000369707.2_Silent_p.E90E|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000429569.2_Silent_p.E90E|GSTO2_ENST00000450629.2_Silent_p.E118E	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2			11		Colorectal(252;0.178)		Glutathione(DB00143)	TGTTATTGGAGCTATTTTGTA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000338595.2	1	1	hg19	CCDS7556.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	1	0	1	24	129	0	27	1	9.972698e-01	23	31	0	27	2		0	0	0	0	0	2	1	9.999998e-01	23	125	0	27	2								-14.422950	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999873	0.990000	1	9.900000e-01	1
GSTO2	119391	broad.mit.edu	37	10	106058905	106058905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106058905G>A	ENST00000338595.2	+	7	915	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	GSTO2_ENST00000369707.2_Missense_Mutation_p.A171T|GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N|GSTO2_ENST00000450629.2_Missense_Mutation_p.A165T	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2			11		Colorectal(252;0.178)		Glutathione(DB00143)	CCACACGCCAGCCCTGCGGCT	0.512000																								0							SO:0001583	missense			ENST00000338595.2	1	1	hg19	CCDS7556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.23|11.23	1.578633|1.578633	0.28180|0.28180	.|.	.|.	ENSG00000065621|ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707|ENST00000429569	D;T;D|T	0.93712|0.13657	-3.27;2.54;-3.27|2.57	6.04|6.04	-0.589|-0.589	0.11683|0.11683	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.711447|.	0.15275|.	N|.	0.271039|.	T|T	0.06735|0.06735	0.0172|0.0172	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.17465	0.0;0.0|0.022	B;B|B	0.04013|0.11329	0.001;0.001|0.006	T|T	0.43940|0.43940	-0.9360|-0.9360	10|9	0.32370|0.09843	T|T	0.25|0.71	-0.508|-0.508	3.077|3.077	0.06249|0.06249	0.416:0.0:0.2755:0.3085|0.416:0.0:0.2755:0.3085	.|.	165;199|101	B4DJW6;Q9H4Y5|B4DML4	.;GSTO2_HUMAN|.	T|N	199;199;165;171|101	ENSP00000345023:A199T;ENSP00000390986:A165T;ENSP00000358721:A171T|ENSP00000407381:S101N	ENSP00000345023:A199T|ENSP00000407381:S101N	A|S	+|+	1|2	0|0	GSTO2|GSTO2	106048895|106048895	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.866000|0.866000	0.49608|0.49608	0.981000|0.981000	0.29526|0.29526	-0.050000|-0.050000	0.13356|0.13356	0.563000|0.563000	0.77884|0.77884	GCC|AGC		TCGA-IB-7651-01A-11D-2154-08	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	1	0	1	70	351	0	69	1	9.999999e-01	39	81	0	69	2		0	0	0	0	0	2	1	1	69	347	0	68	2								-3.337892	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPRIP	85450	broad.mit.edu	37	10	106074778	106074778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106074778C>T	ENST00000337478.1	-	2	1203	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	ITPRIP_ENST00000278071.2_Missense_Mutation_p.M344I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein			20					GGTTGAAGGGCATGAACTTCC	0.592000																								0							SO:0001583	missense			ENST00000337478.1	1	1	hg19	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908862	0.02434	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.20738	2.05;2.05;2.05	4.99	3.01	0.34805	.	0.148200	0.64402	D	0.000013	T	0.09468	0.0233	N	0.17631	0.505	0.27709	N	0.945533	B	0.06786	0.001	B	0.08055	0.003	T	0.36866	-0.9730	10	0.02654	T	1	-39.1216	7.4632	0.27306	0.2498:0.4072:0.343:0.0	.	344	Q8IWB1	IPRI_HUMAN	I	344	ENSP00000337178:M344I;ENSP00000278071:M344I;ENSP00000350915:M344I	ENSP00000278071:M344I	M	-	3	0	ITPRIP	106064768	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.183000	0.32041	2.470000	0.83445	0.462000	0.41574	ATG		TCGA-IB-7651-01A-11D-2154-08	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	1	0	1	85	404	0	94	1	9.993974e-01	3	51	0	94	2		0	0	0	0	0	2	1	1	84	393	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPRIP	85450	broad.mit.edu	37	10	106075278	106075278	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075278G>T	ENST00000337478.1	-	2	703	c.532C>A	c.(532-534)Ctc>Atc	p.L178I	ITPRIP_ENST00000278071.2_Missense_Mutation_p.L178I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein			20					CGGTTGCAGAGGCTCCTCAGG	0.612000																								0							SO:0001583	missense			ENST00000337478.1	1	1	hg19	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	7.718	0.696517	0.15106	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23348	1.91;1.91;1.91	5.68	2.58	0.30949	.	0.274312	0.34200	N	0.004168	T	0.13329	0.0323	N	0.17082	0.46	0.23243	N	0.998052	B	0.06786	0.001	B	0.04013	0.001	T	0.20371	-1.0277	10	0.29301	T	0.29	-20.4168	7.24	0.26092	0.0:0.3762:0.3913:0.2325	.	178	Q8IWB1	IPRI_HUMAN	I	178	ENSP00000337178:L178I;ENSP00000278071:L178I;ENSP00000350915:L178I	ENSP00000278071:L178I	L	-	1	0	ITPRIP	106065268	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.223000	0.42936	0.669000	0.31146	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	1	0	1	81	418	0	93	1	9.958553e-01	5	40	0	93	2		0	0	0	0	0	2	1	1	79	412	0	92	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPRIP	85450	broad.mit.edu	37	10	106075312	106075312	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075312G>T	ENST00000337478.1	-	2	669	c.498C>A	c.(496-498)ggC>ggA	p.G166G	ITPRIP_ENST00000278071.2_Silent_p.G166G|ITPRIP_ENST00000358187.2_Silent_p.G166G|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein			20					CATCCACGAAGCCTTCCAGGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000337478.1	1	1	hg19	CCDS7557.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	1	0	1	76	390	0	89	1	9.990129e-01	3	52	0	89	2		0	0	0	0	0	2	1	1	73	384	0	87	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPRIP	85450	broad.mit.edu	37	10	106075652	106075652	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075652A>G	ENST00000337478.1	-	2	329	c.158T>C	c.(157-159)tTg>tCg	p.L53S	ITPRIP_ENST00000278071.2_Missense_Mutation_p.L53S|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein			20					CTCCAGGCGCAACTGCTCCAG	0.672000																								0							SO:0001583	missense			ENST00000337478.1	1	1	hg19	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928157	0.52759	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.68	5.68	0.88126	.	0.321554	0.30051	N	0.010532	T	0.17619	0.0423	L	0.27053	0.805	0.26231	N	0.97902	D	0.63880	0.993	P	0.56216	0.794	T	0.03555	-1.1025	10	0.72032	D	0.01	-14.6649	15.9181	0.79539	1.0:0.0:0.0:0.0	.	53	Q8IWB1	IPRI_HUMAN	S	53	ENSP00000337178:L53S;ENSP00000278071:L53S;ENSP00000350915:L53S;ENSP00000414141:L53S	ENSP00000278071:L53S	L	-	2	0	ITPRIP	106065642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.626000	0.67777	2.161000	0.67846	0.460000	0.39030	TTG		TCGA-IB-7651-01A-11D-2154-08	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	1	0	1	129	567	0	99	1	9.817144e-01	5	25	0	99	2		0	0	0	0	0	2	1	1	125	546	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SORCS3	22986	broad.mit.edu	37	10	106937871	106937871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106937871C>T	ENST00000369701.3	+	14	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3			131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)			GGTTTCACTTCGGTTCCTCTC	0.473000													NSCLC(116;1497 1690 7108 13108 14106)											0							SO:0001583	missense			ENST00000369701.3	1	1	hg19	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756460	0.31137	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.53640	0.61;0.61	5.48	4.54	0.55810	VPS10 (1);	0.358549	0.26840	N	0.022238	T	0.42539	0.1207	M	0.62088	1.915	0.23855	N	0.996657	B	0.12630	0.006	B	0.08055	0.003	T	0.30208	-0.9986	9	.	.	.	.	9.5487	0.39297	0.0:0.8844:0.0:0.1156	.	650	Q9UPU3	SORC3_HUMAN	L	650;95	ENSP00000358715:S650L;ENSP00000376876:S95L	.	S	+	2	0	SORCS3	106927861	0.000000	0.05858	0.497000	0.27552	0.768000	0.43524	1.064000	0.30579	1.170000	0.42753	0.460000	0.39030	TCG		TCGA-IB-7651-01A-11D-2154-08	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	1	0	1	49	208	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	49	204	0	44	2								-3.281432	1	1	121408	2	29	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SORCS3	22986	broad.mit.edu	37	10	106959834	106959834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106959834G>A	ENST00000369701.3	+	15	2314	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3			131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)			AGCCGGCATTGCACCAAGGAG	0.532000													NSCLC(116;1497 1690 7108 13108 14106)											0							SO:0001583	missense			ENST00000369701.3	1	1	hg19	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889213	0.91889	.	.	ENSG00000156395	ENST00000369701	T	0.44482	0.92	6.07	6.07	0.98685	VPS10 (1);	0.096778	0.64402	D	0.000001	T	0.75428	0.3848	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.80341	-0.1423	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	696	Q9UPU3	SORC3_HUMAN	Y	696	ENSP00000358715:C696Y	.	C	+	2	0	SORCS3	106949824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.388000	0.97237	2.890000	0.99128	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	1	0	1	97	439	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	95	426	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SORCS3	22986	broad.mit.edu	37	10	106974214	106974214	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106974214T>C	ENST00000369701.3	+	18	2617	c.2390T>C	c.(2389-2391)gTg>gCg	p.V797A	SORCS3_ENST00000369699.4_Missense_Mutation_p.V83A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3			131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)			CGGCGGATTGTGTCCAACAAC	0.493000													NSCLC(116;1497 1690 7108 13108 14106)											0							SO:0001583	missense			ENST00000369701.3	0	1	hg19	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	t	27.2	4.810777	0.90707	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.68624	-0.34;-0.34	5.89	5.89	0.94794	VPS10 (1);PKD domain (1);	0.226239	0.38492	N	0.001679	T	0.71417	0.3337	L	0.40543	1.245	0.58432	D	0.999999	D	0.56035	0.974	P	0.57101	0.813	T	0.69778	-0.5053	9	.	.	.	.	16.3122	0.82883	0.0:0.0:0.0:1.0	.	797	Q9UPU3	SORC3_HUMAN	A	797;83	ENSP00000358715:V797A;ENSP00000358713:V83A	.	V	+	2	0	SORCS3	106964204	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	4.741000	0.62095	2.251000	0.74343	0.456000	0.33151	GTG		TCGA-IB-7651-01A-11D-2154-08	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	0	0	0	11	430	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	9.980825e-01	11	417	0	85	2								-10.670600	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.310000	0.160000	1.000000	0.300000	0.373183	0.310000	0	2.200000e-01	4.500000e-01
SORCS3	22986	broad.mit.edu	37	10	107016608	107016608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:107016608C>T	ENST00000369701.3	+	25	3596	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3			131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)			CTGGGCACAGCAGCTCAGCCA	0.428000													NSCLC(116;1497 1690 7108 13108 14106)											0							SO:0001819	synonymous_variant			ENST00000369701.3	1	1	hg19	CCDS7558.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	1	0	1	34	157	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	34	156	0	45	2								-19.732650	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
IDI1	3422	broad.mit.edu	37	10	1088604	1088604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1088604G>A	ENST00000381344.3	-	4	671	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1			6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)		TCAGCTTTCAGCCGTCTCTGT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000381344.3	1	1	hg19	CCDS7056.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	0	0	1	60	284	0	60	1	1	114	221	0	60	2		0	0	0	0	0	2	1	1	58	281	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SORCS1	114815	broad.mit.edu	37	10	108923970	108923970	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:108923970G>A	ENST00000263054.6	-	1	322	c.315C>T	c.(313-315)tcC>tcT	p.S105S	SORCS1_ENST00000344440.6_Silent_p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	p.S105S(2)		127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)			TCCTCCGGCCGGAGCGTGCAG	0.701000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000263054.6	1	1	hg19	CCDS7559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	1	0	0	37	142	0	42		0	0	0	0	42	2	1	1	158	532	1	528	7	1	1	37	139	0	42	2								-20.000000	1	1	121176	2	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADD3	120	broad.mit.edu	37	10	111877175	111877175	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:111877175A>G	ENST00000356080.4	+	5	929	c.562A>G	c.(562-564)Aat>Gat	p.N188D	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N188D|ADD3_ENST00000277900.8_Missense_Mutation_p.N188D	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)			29		Breast(234;0.052)|Lung NSC(174;0.223)			TACAGCCTCCAATTTGGTATA	0.368000																								0							SO:0001583	missense			ENST00000356080.4	1	1	hg19	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748606	0.89753	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.15603	2.41;2.41;2.41	5.8	4.65	0.58169	Class II aldolase/adducin, N-terminal (3);	0.168597	0.64402	D	0.000006	T	0.22437	0.0541	L	0.33668	1.02	0.42578	D	0.993209	P;P	0.36712	0.466;0.566	P;B	0.47864	0.559;0.423	T	0.02917	-1.1094	10	0.87932	D	0	-7.4886	12.0599	0.53557	0.9321:0.0:0.0679:0.0	.	188;188	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	D	188	ENSP00000353286:N188D;ENSP00000348381:N188D;ENSP00000277900:N188D	ENSP00000277900:N188D	N	+	1	0	ADD3	111867165	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.268000	0.78473	0.982000	0.38575	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	1	0	1	40	177	0	39	1	1	53	180	0	39	2		0	0	0	0	0	2	1	1	40	176	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMC3	9126	broad.mit.edu	37	10	112328724	112328724	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112328724G>T	ENST00000361804.4	+	2	170	c.44G>T	c.(43-45)aGa>aTa	p.R15I	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3			39		Breast(234;0.0848)|Lung NSC(174;0.238)			CGAAGTTACAGAGATCAAACA	0.313000																								0							SO:0001583	missense			ENST00000361804.4	1	1	hg19	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	32	5.193181	0.94960	.	.	ENSG00000108055	ENST00000361804	D	0.90504	-2.68	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95962	0.8685	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.95983	0.8979	10	0.56958	D	0.05	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	15	Q9UQE7	SMC3_HUMAN	I	15	ENSP00000354720:R15I	ENSP00000354720:R15I	R	+	2	0	SMC3	112318714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.587000	0.87381	0.563000	0.77884	AGA		TCGA-IB-7651-01A-11D-2154-08	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	1	0	1	48	267	0	55	1	9.995159e-01	20	46	0	55	2		0	0	0	0	0	2	1	1	47	265	0	55	2								-2.724182	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SMC3	9126	broad.mit.edu	37	10	112335133	112335133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112335133G>A	ENST00000361804.4	+	4	296	c.170G>A	c.(169-171)cGt>cAt	p.R57H	SMC3_ENST00000462899.1_3'UTR|snoU13_ENST00000458966.1_RNA	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3			39		Breast(234;0.0848)|Lung NSC(174;0.238)			AGTCATCTTCGTCCAGAACAG	0.299000																								0							SO:0001583	missense			ENST00000361804.4	1	1	hg19	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823357	0.90873	.	.	ENSG00000108055	ENST00000361804	T	0.77229	-1.08	5.37	5.37	0.77165	RecF/RecN/SMC (1);	0.050875	0.85682	D	0.000000	D	0.89522	0.6739	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90974	0.4822	10	0.87932	D	0	.	16.4957	0.84242	0.0:0.1307:0.8693:0.0	.	57	Q9UQE7	SMC3_HUMAN	H	57	ENSP00000354720:R57H	ENSP00000354720:R57H	R	+	2	0	SMC3	112325123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.323000	0.96364	2.677000	0.91161	0.467000	0.42956	CGT		TCGA-IB-7651-01A-11D-2154-08	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	1	0	1	18	253	0	61	1	9.968399e-01	18	115	0	61	2		0	0	0	0	0	2	1	9.999840e-01	18	252	0	60	2								-3.221826	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.810000	0.490000	1.000000	1.000000	0.812009	0.810000	0	6.300000e-01	1
SHOC2	8036	broad.mit.edu	37	10	112724738	112724738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112724738G>A	ENST00000369452.4	+	2	967	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)			17					AACTACTGTGGAAAAGGACAT	0.378000																								0							SO:0001583	missense			ENST00000369452.4	1	1	hg19	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483696	0.63962	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.79653	1.83;1.85;-1.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	N	0.08118	0	0.80722	D	1	D;B	0.56035	0.974;0.016	D;B	0.70487	0.969;0.007	D	0.85741	0.1337	10	0.87932	D	0	.	19.7369	0.96210	0.0:0.0:1.0:0.0	.	208;208	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	K	208;208;44	ENSP00000265277:E208K;ENSP00000358464:E208K;ENSP00000408275:E44K	ENSP00000265277:E208K	E	+	1	0	SHOC2	112714728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.665000	0.90641	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	1	0	1	64	345	0	77	1	1	49	104	0	77	2		0	0	0	0	0	2	1	1	64	339	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHOC2	8036	broad.mit.edu	37	10	112771563	112771563	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112771563G>A	ENST00000369452.4	+	9	2081	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)			17					GGTCCATATCGTGCCATGGTC	0.398000																								0							SO:0001583	missense			ENST00000369452.4	1	1	hg19	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703277	0.68501	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.39229	1.48;1.09;1.37	5.64	4.74	0.60224	.	0.045276	0.85682	N	0.000000	T	0.58323	0.2114	L	0.49126	1.545	0.80722	D	1	B;D	0.89917	0.003;1.0	B;D	0.74023	0.002;0.982	T	0.61729	-0.7003	10	0.72032	D	0.01	.	14.7556	0.69560	0.07:0.0:0.93:0.0	.	533;579	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	H	533;579;369	ENSP00000265277:R533H;ENSP00000358464:R579H;ENSP00000408275:R369H	ENSP00000265277:R533H	R	+	2	0	SHOC2	112761553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.803000	0.99136	1.369000	0.46134	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	1	0	1	64	289	0	78	1	1	36	137	0	78	2		0	0	0	0	0	2	1	1	64	284	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADRA2A	150	broad.mit.edu	37	10	112839042	112839042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112839042G>A	ENST00000280155.2	+	1	2253	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A			21		Breast(234;0.0735)|Lung NSC(174;0.238)		Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCTGGTTCGGCTACTGCAA	0.572000													Esophageal Squamous(173;605 2658 7278 49362)											0							SO:0001583	missense			ENST00000280155.2	1	1	hg19	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756472	0.89843	.	.	ENSG00000150594	ENST00000280155	T	0.36157	1.27	3.82	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.60676	0.2287	M	0.90814	3.15	0.58432	D	0.999999	D	0.61697	0.99	P	0.55615	0.78	T	0.73943	-0.3823	10	0.87932	D	0	.	15.8745	0.79151	0.0:0.0:1.0:0.0	.	415	P08913	ADA2A_HUMAN	S	430	ENSP00000280155:G430S	ENSP00000280155:G430S	G	+	1	0	ADRA2A	112829032	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.350000	0.97070	1.936000	0.56123	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	1	0	1	142	668	0	144	1	1	161	236	0	144	2		0	0	0	0	0	2	1	1	140	657	0	143	2								-2.938680	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELF2	10659	broad.mit.edu	37	10	11312657	11312657	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11312657T>C	ENST00000379261.4	+	7	718	c.626T>C	c.(625-627)tTt>tCt	p.F209S	CELF2_ENST00000537122.1_Missense_Mutation_p.F98S|CELF2_ENST00000608830.1_Missense_Mutation_p.F185S|CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000609692.1_Missense_Mutation_p.F185S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000315874.4_Missense_Mutation_p.F185S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2			16					GTGGTGAAGTTTGCTGACACT	0.582000											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000379261.4	1	1	hg19	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222595	0.79464	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D	0.76494	0.992;0.992;0.99;0.999;0.997;0.992	P;P;P;D;D;P	0.80764	0.729;0.799;0.66;0.994;0.945;0.799	T	0.06463	-1.0825	10	0.87932	D	0	-11.1953	15.9599	0.79923	0.0:0.0:0.0:1.0	.	193;209;204;216;204;209	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	S	209;209;216;216;185;185;185;185;185;185;98;15	ENSP00000368563:F209S;ENSP00000406451:F209S;ENSP00000389951:F216S;ENSP00000443926:F216S;ENSP00000382743:F185S;ENSP00000404834:F185S;ENSP00000315328:F185S;ENSP00000346426:F185S;ENSP00000388530:F185S;ENSP00000438884:F98S	ENSP00000315328:F185S	F	+	2	0	CELF2	11352663	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.988000	0.88194	2.153000	0.67306	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	56	231	0	66	0	9.999248e-01	0	61	0	66	2		0	0	0	0	0	2	1	1	55	229	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR37	22884	broad.mit.edu	37	10	1132252	1132252	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1132252G>C	ENST00000358220.1	+	7	703	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q|WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37			17		all_epithelial(10;0.0449)|Colorectal(49;0.142)			GTGGAGCATAGAGACAGGGAA	0.483000																								0							SO:0001583	missense			ENST00000358220.1	1	1	hg19	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850432	0.51270	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;D;T;D	0.81996	4.98;-1.56;4.98;-1.56	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047953	0.85682	N	0.000000	T	0.78874	0.4352	L	0.43598	1.365	0.80722	D	1	B;P;B	0.43477	0.361;0.808;0.098	B;B;B	0.39706	0.068;0.307;0.031	T	0.76953	-0.2768	10	0.26408	T	0.33	.	18.3995	0.90511	0.0:0.0:1.0:0.0	.	187;187;187	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	Q	187;187;187;154	ENSP00000350954:E187Q;ENSP00000370730:E187Q;ENSP00000263150:E187Q;ENSP00000404346:E154Q	ENSP00000263150:E187Q	E	+	1	0	WDR37	1122252	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	9.145000	0.94634	2.637000	0.89404	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	1	0	1	32	177	0	43	1	9.837107e-01	12	27	0	43	2		0	0	0	0	0	2	1	1	30	173	0	43	2								-3.339802	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
CELF2	10659	broad.mit.edu	37	10	11363230	11363230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11363230C>T	ENST00000379261.4	+	11	1228	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	CELF2_ENST00000537122.1_Missense_Mutation_p.T274I|CELF2_ENST00000608830.1_Missense_Mutation_p.T359I|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000609692.1_Missense_Mutation_p.T359I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000315874.4_Missense_Mutation_p.T361I|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2			16					ACGGCTGGCACCATGGACGCC	0.577000																								0							SO:0001583	missense			ENST00000379261.4	1	1	hg19	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088708	0.76756	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.33	5.33	0.75918	.	0.150107	0.64402	D	0.000016	T	0.65048	0.2654	L	0.46157	1.445	0.58432	D	0.999999	P;B;B;P;P	0.37330	0.574;0.167;0.165;0.584;0.59	B;B;B;B;B	0.43478	0.421;0.063;0.029;0.239;0.239	T	0.66244	-0.5972	10	0.56958	D	0.05	-8.2134	19.2874	0.94084	0.0:1.0:0.0:0.0	.	367;380;392;392;379	B4DDE7;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;CELF2_HUMAN	I	379;379;392;392;361;359;361;361;369;361;274;185	ENSP00000368563:T379I;ENSP00000406451:T379I;ENSP00000389951:T392I;ENSP00000443926:T392I;ENSP00000382743:T361I;ENSP00000404834:T359I;ENSP00000315328:T361I;ENSP00000346426:T361I;ENSP00000388530:T361I;ENSP00000438884:T274I	ENSP00000315328:T361I	T	+	2	0	CELF2	11403236	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	2.789000	0.95967	0.558000	0.71614	ACC		TCGA-IB-7651-01A-11D-2154-08	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	79	427	0	74	0	9.979091e-01	0	52	0	74	2		0	0	0	0	0	2	1	1	77	423	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPAM	57678	broad.mit.edu	37	10	113917132	113917132	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113917132C>A	ENST00000348367.4	-	19	2193	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial			31					GGACTGATATCTTCCTGGTCA	0.483000													Ovarian(161;1017 2606 18293 52943)											0							SO:0001583	missense			ENST00000348367.4	1	1	hg19	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798844	0.90538	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69806	-0.43;-0.43;-0.42	5.63	5.63	0.86233	.	0.163773	0.53938	D	0.000052	T	0.76513	0.3998	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.888	T	0.73014	-0.4116	10	0.35671	T	0.21	-16.7223	18.2342	0.89944	0.0:1.0:0.0:0.0	.	666;666	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Y	666	ENSP00000265276:D666Y;ENSP00000409242:D666Y;ENSP00000358433:D666Y	ENSP00000265276:D666Y	D	-	1	0	GPAM	113907122	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.912000	0.75753	2.808000	0.96608	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	1	0	0	57	233	0	53	1	8.719588e-01	4	13	0	53	2		0	0	0	0	0	2	1	1	57	226	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPAM	57678	broad.mit.edu	37	10	113928664	113928664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113928664C>T	ENST00000348367.4	-	10	1038	c.841G>A	c.(841-843)Gat>Aat	p.D281N	GPAM_ENST00000423155.1_Missense_Mutation_p.D281N|GPAM_ENST00000369425.1_Missense_Mutation_p.D281N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial			31					GGTGTTTCATCGAGCCTTCGT	0.373000													Ovarian(161;1017 2606 18293 52943)											0							SO:0001583	missense			ENST00000348367.4	1	1	hg19	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640772	0.67244	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93133	-3.17;-3.17;-3.17	5.58	5.58	0.84498	Phospholipid/glycerol acyltransferase (2);	0.050745	0.85682	D	0.000000	D	0.93184	0.7829	L	0.31065	0.9	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.60682	0.878;0.83	D	0.92607	0.6096	10	0.40728	T	0.16	-26.5966	14.7486	0.69508	0.0:0.9287:0.0:0.0713	.	281;281	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	N	281	ENSP00000265276:D281N;ENSP00000409242:D281N;ENSP00000358433:D281N	ENSP00000265276:D281N	D	-	1	0	GPAM	113918654	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	5.084000	0.64462	2.620000	0.88729	0.643000	0.83706	GAT		TCGA-IB-7651-01A-11D-2154-08	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	1	0	1	67	330	0	82	1	9.034691e-01	11	11	0	82	2		0	0	0	0	0	2	1	1	66	324	0	81	2								-2.948875	1	1	121412	1	27	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPAM	57678	broad.mit.edu	37	10	113937793	113937793	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113937793A>G	ENST00000348367.4	-	5	445	c.248T>C	c.(247-249)aTc>aCc	p.I83T	GPAM_ENST00000423155.1_Missense_Mutation_p.I83T|GPAM_ENST00000480130.1_5'Flank|GPAM_ENST00000369425.1_Missense_Mutation_p.I83T			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial			31					CAAAGACGGGATACTGGGGTT	0.308000													Ovarian(161;1017 2606 18293 52943)											0							SO:0001583	missense			ENST00000348367.4	1	1	hg19	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010639	0.75046	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.40756	1.02;1.02;1.02	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.55213	1.73	0.58432	D	0.999998	D;D	0.71674	0.981;0.998	D;D	0.76071	0.966;0.987	T	0.50659	-0.8802	10	0.09843	T	0.71	-21.1449	15.1293	0.72511	1.0:0.0:0.0:0.0	.	83;83	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	T	83	ENSP00000265276:I83T;ENSP00000409242:I83T;ENSP00000358433:I83T	ENSP00000265276:I83T	I	-	2	0	GPAM	113927783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.603000	0.90871	2.044000	0.60594	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	1	0	1	40	189	0	49	1	7.949247e-01	7	9	0	49	2		0	0	0	0	0	2	1	1	40	186	0	48	2								-19.998100	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTB	6975	broad.mit.edu	37	10	114053586	114053586	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053586G>T	ENST00000369422.3	+	5	574	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta			19		Colorectal(252;0.198)			GGAAGCCAAAGGGTTAAGCAT	0.388000																								0							SO:0001583	missense			ENST00000369422.3	1	1	hg19	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178868	0.78564	.	.	ENSG00000119913	ENST00000369422	D	0.82526	-1.62	5.97	5.97	0.96955	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.166094	0.53938	D	0.000052	D	0.90215	0.6941	M	0.70275	2.135	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.90484	0.4462	10	0.87932	D	0	.	18.6193	0.91316	0.0:0.0:1.0:0.0	.	192	Q96PL2	TECTB_HUMAN	W	192	ENSP00000358430:G192W	ENSP00000358430:G192W	G	+	1	0	TECTB	114043576	1.000000	0.71417	0.994000	0.49952	0.680000	0.39746	8.328000	0.90014	2.836000	0.97738	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	1	0	1	51	226	0	66	0	0	1	0	0	66	2		0	0	0	0	0	2	1	1	50	221	0	66	2								-2.945079	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTB	6975	broad.mit.edu	37	10	114053768	114053768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053768C>T	ENST00000369422.3	+	6	620	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta			19		Colorectal(252;0.198)			TGTTGGGCCACCCCCTCGGCT	0.448000																								0							SO:0001583	missense			ENST00000369422.3	1	1	hg19	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960388	0.92791	.	.	ENSG00000119913	ENST00000369422	D	0.86097	-2.07	5.67	5.67	0.87782	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.102794	0.64402	D	0.000003	D	0.93478	0.7919	M	0.88241	2.94	0.58432	D	0.999999	D	0.71674	0.998	D	0.69479	0.964	D	0.94079	0.7342	10	0.87932	D	0	.	18.3222	0.90242	0.0:1.0:0.0:0.0	.	207	Q96PL2	TECTB_HUMAN	I	207	ENSP00000358430:T207I	ENSP00000358430:T207I	T	+	2	0	TECTB	114043758	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.303000	0.72794	2.836000	0.97738	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	1	0	1	46	208	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	46	205	0	44	2								-3.342822	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTB	6975	broad.mit.edu	37	10	114057903	114057903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114057903C>T	ENST00000369422.3	+	7	748	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta			19		Colorectal(252;0.198)			CAATGCTTTCCGGTTCCAGAA	0.537000																								0							SO:0001583	missense			ENST00000369422.3	1	1	hg19	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191743	0.94923	.	.	ENSG00000119913	ENST00000369422	D	0.84370	-1.84	6.03	6.03	0.97812	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92939	0.6370	10	0.72032	D	0.01	-24.7951	20.5666	0.99351	0.0:1.0:0.0:0.0	.	250	Q96PL2	TECTB_HUMAN	W	250	ENSP00000358430:R250W	ENSP00000358430:R250W	R	+	1	2	TECTB	114047893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.575000	0.74018	2.854000	0.98071	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	1	0	1	60	267	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	60	264	0	62	2								-2.762957	1	1	121412	4	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSL5	51703	broad.mit.edu	37	10	114170354	114170354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114170354G>A	ENST00000393081.1	+	9	1064	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K|ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K|ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K|RP11-324O2.3_ENST00000594870.2_RNA|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K|RP11-324O2.3_ENST00000598447.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5			21		Colorectal(252;0.117)|Breast(234;0.222)			TCCTAGCCCAGAAGACCTGAG	0.502000																								0							SO:0001583	missense			ENST00000393081.1	1	1	hg19	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338077	0.60963	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.39	4.48	0.54585	AMP-dependent synthetase/ligase (1);	0.386932	0.31051	N	0.008355	T	0.16811	0.0404	M	0.71036	2.16	0.58432	D	0.999993	B;B;B;B	0.19073	0.01;0.033;0.016;0.019	B;B;B;B	0.23150	0.044;0.033;0.03;0.029	T	0.03095	-1.1073	10	0.49607	T	0.09	-19.5706	8.8461	0.35170	0.1669:0.0:0.8331:0.0	.	35;253;309;253	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	K	253;253;309;253;253;35	ENSP00000346680:E253K;ENSP00000376796:E253K;ENSP00000348429:E309K;ENSP00000403647:E253K;ENSP00000346223:E253K;ENSP00000358418:E35K	ENSP00000346223:E253K	E	+	1	0	ACSL5	114160344	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.136000	0.64783	2.524000	0.85096	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	1	0	1	29	154	0	42	1	9.999997e-01	7	131	0	42	2		0	0	0	0	0	2	1	1	29	152	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
ZDHHC6	64429	broad.mit.edu	37	10	114190566	114190566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114190566C>T	ENST00000369405.3	-	11	1661	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZDHHC6_ENST00000482410.1_Intron|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6			14		Colorectal(252;0.198)			CAGCAGCTATCTATTTTTCTT	0.373000																								0							SO:0001583	missense			ENST00000369405.3	1	1	hg19	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260108	0.39995	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.64803	0.62;-0.12	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39633	1.23	0.40040	D	0.975638	B;B	0.06786	0.001;0.0	B;B	0.08055	0.001;0.003	T	0.46843	-0.9162	10	0.27785	T	0.31	-1.2885	15.0839	0.72135	0.0:0.93:0.0:0.07	.	409;413	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	K	413;409	ENSP00000358413:R413K;ENSP00000358412:R409K	ENSP00000358412:R409K	R	-	2	0	ZDHHC6	114180556	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	3.275000	0.51639	2.785000	0.95823	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	1	0	1	48	285	0	67	1	1	48	132	0	67	2		0	0	0	0	0	2	1	1	48	276	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
VTI1A	143187	broad.mit.edu	37	10	114575062	114575062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114575062C>T	ENST00000393077.2	+	8	690	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A		VTI1A/TCF7L2(8)	6		Colorectal(252;0.0314)|Breast(234;0.183)			CATCCAGAACCGCATCCTGCT	0.493000			T	TCF7L2	colorectal										Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0							SO:0001583	missense			ENST00000393077.2	1	1	hg19	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605788	0.87157	.	.	ENSG00000151532	ENST00000393077	.	.	.	6.02	6.02	0.97574	.	3.193000	0.00659	N	0.000585	D	0.86961	0.6059	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71882	-0.4458	9	0.87932	D	0	-49.539	20.5407	0.99260	0.0:1.0:0.0:0.0	.	192	Q5W0D7	.	C	192	.	ENSP00000376792:R192C	R	+	1	0	VTI1A	114565052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.263000	0.78421	2.865000	0.98341	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2	1	0	1	68	282	0	83	1	9.996114e-01	11	40	0	83	2		0	0	0	0	0	2	1	1	66	277	0	83	2								-3.007751	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF7L2	6934	broad.mit.edu	37	10	114918429	114918429	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114918429A>G	ENST00000355995.4	+	13	1829	c.1322A>G	c.(1321-1323)cAc>cGc	p.H441R	TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000536810.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)		VTI1A/TCF7L2(8)	41		Breast(234;0.058)|Colorectal(252;0.0615)			TTTTCAGAACACAGCGAATGT	0.338000			T	VTI1A	colorectal										Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0							SO:0001583	missense			ENST00000355995.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	a	8.094	0.775101	0.16051	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695	D;D;D;D;D;D;D	0.99150	-4.91;-4.91;-5.49;-5.49;-4.91;-5.48;-4.93	5.67	5.67	0.87782	.	0.113107	0.64402	D	0.000020	D	0.98830	0.9605	L	0.53249	1.67	0.80722	D	1	P;B;B;B;P;B;D;D;B;D;B;D	0.58970	0.932;0.0;0.0;0.0;0.932;0.0;0.973;0.984;0.0;0.973;0.013;0.973	P;B;B;B;P;B;D;D;B;D;B;D	0.69479	0.84;0.0;0.0;0.001;0.888;0.001;0.921;0.964;0.0;0.921;0.014;0.921	D	0.99795	1.1033	10	0.25751	T	0.34	-14.8426	15.9154	0.79512	1.0:0.0:0.0:0.0	.	298;258;340;441;312;356;414;418;418;423;414;418	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;C6ZRK1;C6ZRJ7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.	R	441;441;441;441;418;418;157	ENSP00000348274:H441R;ENSP00000440547:H441R;ENSP00000446172:H441R;ENSP00000443626:H441R;ENSP00000358404:H418R;ENSP00000344823:H418R;ENSP00000443883:H157R	ENSP00000344823:H418R	H	+	2	0	TCF7L2	114908419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.998000	0.76277	2.178000	0.69098	0.533000	0.62120	CAC		TCGA-IB-7651-01A-11D-2154-08	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	55	256	0	46	1	9.029112e-01	3	18	0	46	2		0	0	0	0	0	2	1	1	53	253	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP6NL	9712	broad.mit.edu	37	10	11504924	11504924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11504924C>A	ENST00000609104.1	-	15	2397	c.2003G>T	c.(2002-2004)aGg>aTg	p.R668M	USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M|USP6NL_ENST00000379237.2_Missense_Mutation_p.R691M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like			32					ATGAGGTCTCCTGGAAGGATT	0.532000																								0							SO:0001583	missense			ENST00000609104.1	1	1	hg19	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575025	0.65878	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04603	3.59;3.59	6.17	6.17	0.99709	.	0.162898	0.42172	D	0.000760	T	0.14700	0.0355	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.63192	0.818;0.912	T	0.09487	-1.0672	10	0.51188	T	0.08	.	11.0573	0.47927	0.0:0.8635:0.0:0.1365	.	668;685	Q92738;Q92738-2	US6NL_HUMAN;.	M	668;685;668	ENSP00000277575:R685M;ENSP00000368539:R668M	ENSP00000277575:R685M	R	-	2	0	USP6NL	11544930	0.038000	0.19896	0.042000	0.18584	0.008000	0.06430	2.740000	0.47418	2.941000	0.99782	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	1	0	1	26	97	0	24	1	9.999710e-01	14	54	0	24	2		0	0	0	0	0	2	1	1	26	93	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
USP6NL	9712	broad.mit.edu	37	10	11523859	11523859	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11523859C>T	ENST00000609104.1	-	14	1382	c.988G>A	c.(988-990)Gat>Aat	p.D330N	USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N|USP6NL_ENST00000379237.2_Missense_Mutation_p.D353N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like			32					AAGAAAAAATCCTTTGCCAGG	0.353000																								0							SO:0001583	missense			ENST00000609104.1	1	1	hg19	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104746	0.56291	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.22336	1.96;1.96	5.55	3.65	0.41850	Rab-GAP/TBC domain (1);	0.215793	0.48286	N	0.000186	T	0.17238	0.0414	L	0.37800	1.135	0.58432	D	0.999999	P;P	0.37824	0.609;0.537	B;B	0.36186	0.17;0.219	T	0.02156	-1.1204	10	0.49607	T	0.09	.	11.8328	0.52305	0.0:0.8678:0.0:0.1322	.	330;347	Q92738;Q92738-2	US6NL_HUMAN;.	N	330;347;330	ENSP00000277575:D347N;ENSP00000368539:D330N	ENSP00000277575:D347N	D	-	1	0	USP6NL	11563865	0.995000	0.38212	0.992000	0.48379	0.988000	0.76386	1.455000	0.35190	0.654000	0.30846	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	1	0	1	15	100	0	30	1	8.485427e-01	5	20	0	30	2		0	0	0	0	0	2	1	9.999100e-01	15	100	0	30	2								-19.999980	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.910000	1.000000	1.000000	0.994907	0.990000	1	9.900000e-01	1
HABP2	3026	broad.mit.edu	37	10	115345621	115345621	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115345621A>C	ENST00000351270.3	+	12	1538	c.1442A>C	c.(1441-1443)cAa>cCa	p.Q481P	HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2			23		Colorectal(252;0.0233)|Breast(234;0.0672)		Hyaluronan(DB08818)	AACTCCCGCCAACTCTATGAC	0.512000																								0							SO:0001583	missense			ENST00000351270.3	1	1	hg19	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807505	0.31961	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.88277	-2.36;-2.35	6.03	-4.73	0.03259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.624330	0.02695	N	0.111065	D	0.83064	0.5173	N	0.12746	0.255	0.09310	N	1	P	0.44877	0.845	P	0.44811	0.461	T	0.73575	-0.3939	10	0.45353	T	0.12	.	16.0541	0.80782	0.6114:0.0:0.3886:0.0	.	481	Q14520	HABP2_HUMAN	P	455;481	ENSP00000443283:Q455P;ENSP00000277903:Q481P	ENSP00000277903:Q481P	Q	+	2	0	HABP2	115335611	0.000000	0.05858	0.016000	0.15963	0.202000	0.24057	-1.183000	0.03079	-0.637000	0.05516	-1.000000	0.02509	CAA		TCGA-IB-7651-01A-11D-2154-08	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	1	0	1	67	221	0	62	0	1	0	138	0	62	2		0	0	0	0	0	2	1	1	67	214	0	62	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRAP	4892	broad.mit.edu	37	10	115355411	115355411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115355411C>T	ENST00000359988.3	-	38	4751	c.4507G>A	c.(4507-4509)Gct>Act	p.A1503T	NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T|NRAP_ENST00000369358.4_Missense_Mutation_p.A1511T|NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein			95		Colorectal(252;0.0233)|Breast(234;0.188)			TTGAGGCGAGCTCGGGTGAAA	0.502000																								0							SO:0001583	missense			ENST00000359988.3	1	1	hg19	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770003	0.90020	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.88105	2.93	0.43334	D	0.99537	D;D;D;D	0.89917	1.0;0.977;0.984;0.987	D;D;D;D	0.91635	0.999;0.925;0.915;0.949	D	0.86933	0.2074	10	0.72032	D	0.01	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	661;1503;1468;1503	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	T	1511;1476;1503;1468;661	ENSP00000358365:A1511T;ENSP00000358367:A1476T;ENSP00000353078:A1503T;ENSP00000353666:A1468T	ENSP00000353078:A1503T	A	-	1	0	NRAP	115345401	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.122000	0.64697	2.826000	0.97356	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	0	0	1	81	350	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1	78	343	0	112	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRAP	4892	broad.mit.edu	37	10	115365537	115365537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115365537C>A	ENST00000359988.3	-	34	4143	c.3899G>T	c.(3898-3900)gGa>gTa	p.G1300V	NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V|NRAP_ENST00000369358.4_Missense_Mutation_p.G1308V|NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein			95		Colorectal(252;0.0233)|Breast(234;0.188)			GGCTATATCTCCAGAGGCCCG	0.458000																								0							SO:0001583	missense			ENST00000359988.3	1	1	hg19	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893655	0.33442	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16324	2.56;2.56;2.44;2.35	5.24	5.24	0.73138	.	0.298590	0.37483	N	0.002077	T	0.20251	0.0487	L	0.46157	1.445	0.53005	D	0.999964	B;P;B	0.34462	0.325;0.454;0.325	B;B;B	0.38985	0.15;0.287;0.15	T	0.01729	-1.1286	10	0.34782	T	0.22	.	14.7668	0.69646	0.0:0.8558:0.1442:0.0	.	1300;1265;1300	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	1308;1273;1300;1265	ENSP00000358365:G1308V;ENSP00000358367:G1273V;ENSP00000353078:G1300V;ENSP00000353666:G1265V	ENSP00000353078:G1300V	G	-	2	0	NRAP	115355527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.155000	0.50700	2.622000	0.88805	0.555000	0.69702	GGA		TCGA-IB-7651-01A-11D-2154-08	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	1	0	1	391	1841	0	452		0	0	0	0	452	2		0	0	0	0	0	2	1	1	387	1805	0	452	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRAP	4892	broad.mit.edu	37	10	115385861	115385861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115385861A>G	ENST00000359988.3	-	21	2433	c.2189T>C	c.(2188-2190)gTg>gCg	p.V730A	NRAP_ENST00000369360.3_Missense_Mutation_p.V703A|NRAP_ENST00000369358.4_Missense_Mutation_p.V738A|NRAP_ENST00000360478.3_Missense_Mutation_p.V695A	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein			95		Colorectal(252;0.0233)|Breast(234;0.188)			GCTGTCGGTCACGCTGGTGAA	0.577000																								0							SO:0001583	missense			ENST00000359988.3	1	1	hg19	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719256	0.89205	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.77486	2.375	0.52501	D	0.999958	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	D;D;D;D	0.85130	0.992;0.997;0.99;0.984	T	0.65928	-0.6049	10	0.62326	D	0.03	.	16.1557	0.81666	1.0:0.0:0.0:0.0	.	410;730;695;730	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	A	738;703;730;695;410	ENSP00000358365:V738A;ENSP00000358367:V703A;ENSP00000353078:V730A;ENSP00000353666:V695A	ENSP00000353078:V730A	V	-	2	0	NRAP	115375851	1.000000	0.71417	0.993000	0.49108	0.788000	0.44548	7.949000	0.87791	2.291000	0.77112	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	1	0	1	19	86	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999937e-01	18	84	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999895	0.990000	1	9.900000e-01	1
CASP7	840	broad.mit.edu	37	10	115485189	115485189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115485189G>A	ENST00000345633.4	+	6	829	c.445G>A	c.(445-447)Gta>Ata	p.V149I	CASP7_ENST00000452490.2_Missense_Mutation_p.V124I|CASP7_ENST00000369321.2_Missense_Mutation_p.V182I|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I|CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369331.4_Splice_Site	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase			8		Colorectal(252;0.0946)|Breast(234;0.188)			AGAAGAAAATGTAATTTATGG	0.418000																								0							SO:0001583	missense			ENST00000345633.4	0	1	hg19	CCDS7581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.498|8.498	0.863645|0.863645	0.17250|0.17250	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000429617;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000369315;ENST00000452490	.|T;T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56;1.56	5.68|5.68	-4.79|-4.79	0.03200|0.03200	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.|0.614966	.|0.17679	.|N	.|0.165713	.|T	.|0.16085	.|0.0387	L|L	0.35414|0.35414	1.06|1.06	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22346	.|0.049;0.009;0.068;0.044	.|B;B;B;B	.|0.17722	.|0.012;0.017;0.011;0.019	.|T	.|0.33007	.|-0.9885	.|10	.|0.13470	.|T	.|0.59	.|.	9.6905|9.6905	0.40125|0.40125	0.0:0.517:0.2157:0.2673|0.0:0.517:0.2157:0.2673	.|.	.|124;157;182;149	.|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	.|I	-1|149;182;149;149;149;124	.|ENSP00000400094:V149I;ENSP00000358327:V182I;ENSP00000298701:V149I;ENSP00000358324:V149I;ENSP00000358321:V149I;ENSP00000398107:V124I	.|ENSP00000298701:V149I	.|V	+|+	.|1	.|0	CASP7|CASP7	115475179|115475179	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.849000|0.849000	0.48306|0.48306	-0.444000|-0.444000	0.06854|0.06854	-0.821000|-0.821000	0.04312|0.04312	-1.245000|-1.245000	0.01525|0.01525	.|GTA		TCGA-IB-7651-01A-11D-2154-08	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	1	0	1	50	255	0	48	1	9.999658e-01	17	64	0	48	2		0	0	0	0	0	2	1	1	49	247	0	47	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NHLRC2	374354	broad.mit.edu	37	10	115636517	115636517	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115636517A>G	ENST00000369301.3	+	3	781	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2			15					TTATTTTTATATACTTCAATT	0.353000																								0							SO:0001583	missense			ENST00000369301.3	1	1	hg19	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359605	0.61403	.	.	ENSG00000196865	ENST00000369301	T	0.46063	0.88	5.61	2.91	0.33838	Thioredoxin-like fold (2);	0.057252	0.64402	D	0.000001	T	0.39489	0.1080	L	0.41492	1.28	0.43819	D	0.996381	D	0.62365	0.991	P	0.50231	0.635	T	0.16689	-1.0394	10	0.46703	T	0.11	-11.2129	8.6969	0.34301	0.5125:0.0:0.0:0.4875	.	190	Q8NBF2	NHLC2_HUMAN	C	190	ENSP00000358307:Y190C	ENSP00000358307:Y190C	Y	+	2	0	NHLRC2	115626507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.301000	0.65727	1.032000	0.39892	-0.341000	0.08007	TAT		TCGA-IB-7651-01A-11D-2154-08	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	1	0	1	91	359	0	46	1	9.864809e-01	11	18	0	46	2		0	0	0	0	0	2	1	1	90	353	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADRB1	153	broad.mit.edu	37	10	115805121	115805121	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115805121C>T	ENST00000369295.2	+	1	1316	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1			6		Colorectal(252;0.172)|Breast(234;0.188)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	ACCGGCCGCGCGCCTCGGGCT	0.796000																								0							SO:0001819	synonymous_variant			ENST00000369295.2	0	1	hg19	CCDS7586.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1	0	0	0	10	35	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.970823e-01	10	32	0	6	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999159	0.990000	1	9.900000e-01	1
C10orf118	0	broad.mit.edu	37	10	115884935	115884935	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115884935C>T	ENST00000369287.3	-	16	2930	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	C10orf118_ENST00000543782.1_3'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN				24		Colorectal(252;0.172)|Breast(234;0.188)			CTAGTTCATGCTGGTGTTTAA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000369287.3	1	1	hg19	CCDS7587.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1	0	0	1	9	188	0	53	1	8.407084e-01	10	62	0	53	2		0	0	0	0	0	2	1	9.932445e-01	8	180	0	52	2								-11.442280	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.570000	0.280000	1.000000	0.530000	0.614249	0.570000	0	4.000000e-01	8.400000e-01
C10orf118	0	broad.mit.edu	37	10	115887367	115887367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115887367G>A	ENST00000369287.3	-	14	2512	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V|C10orf118_ENST00000497592.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN				24		Colorectal(252;0.172)|Breast(234;0.188)			GTTATCCACAGCTACTGAGGA	0.403000																								0							SO:0001583	missense			ENST00000369287.3	1	1	hg19	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047970	0.36085	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T	0.24908	1.83	4.89	3.98	0.46160	.	0.247634	0.40640	N	0.001059	T	0.13072	0.0317	N	0.10874	0.06	0.36466	D	0.866974	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.13361	-1.0512	10	0.26408	T	0.33	.	10.9391	0.47262	0.087:0.0:0.913:0.0	.	347;749	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	V	749;347;855	ENSP00000358293:A749V	ENSP00000358293:A749V	A	-	2	0	C10orf118	115877357	1.000000	0.71417	0.934000	0.37439	0.996000	0.88848	6.082000	0.71318	2.251000	0.74343	0.549000	0.68633	GCT		TCGA-IB-7651-01A-11D-2154-08	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1	1	0	1	40	261	0	54	1	9.925040e-01	13	39	0	54	2		0	0	0	0	0	2	1	1	40	255	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999894	0.990000	1	9.900000e-01	1
C10orf118	0	broad.mit.edu	37	10	115904338	115904338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115904338T>G	ENST00000369287.3	-	6	1405	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	C10orf118_ENST00000543782.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN				24		Colorectal(252;0.172)|Breast(234;0.188)			TTCCTTTAATTTGTCTATTTC	0.299000																								0							SO:0001583	missense			ENST00000369287.3	1	1	hg19	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328828|4.328828	0.81690|0.81690	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000430353|ENST00000428953	T|.	0.55760|.	0.5|.	5.42|5.42	4.28|4.28	0.50868|0.50868	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71584|0.71584	0.3357|0.3357	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.70806|0.70806	-0.4772|-0.4772	10|5	0.48119|.	T|.	0.1|.	.|.	9.785|9.785	0.40670|0.40670	0.0:0.0784:0.0:0.9216|0.0:0.0784:0.0:0.9216	.|.	380|.	Q7Z3E2|.	CJ118_HUMAN|.	T|H	380;486|8	ENSP00000358293:K380T|.	ENSP00000358293:K380T|.	K|Q	-|-	2|3	0|2	C10orf118|C10orf118	115894328|115894328	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.989000|0.989000	0.77384|0.77384	4.946000|4.946000	0.63576|0.63576	0.900000|0.900000	0.36469|0.36469	0.456000|0.456000	0.33151|0.33151	AAA|CAA		TCGA-IB-7651-01A-11D-2154-08	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1	1	0	1	34	301	0	56	1	9.920984e-01	11	58	0	56	2		0	0	0	0	0	2	1	1	34	292	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.860000	1.000000	1.000000	0.990117	0.990000	1	9.900000e-01	1
TDRD1	56165	broad.mit.edu	37	10	115970351	115970351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115970351G>T	ENST00000369280.1	+	12	1856	c.1396G>T	c.(1396-1398)Gat>Tat	p.D466Y	TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000251864.2_Missense_Mutation_p.D466Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1			48		Colorectal(252;0.172)|Breast(234;0.188)			TGATCCTGAAGATGTTGGAAA	0.313000																								0							SO:0001583	missense			ENST00000369280.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.31	3.087955	0.55968	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.19806	3.0;2.99;2.12;2.41;3.01	5.64	5.64	0.86602	.	0.670270	0.15592	N	0.254378	T	0.45377	0.1339	L	0.59436	1.845	0.36139	D	0.846662	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;1.0	D;D;D;D;D	0.78314	0.964;0.968;0.98;0.986;0.991	T	0.49513	-0.8932	10	0.72032	D	0.01	-11.957	16.8571	0.86009	0.0:0.0:1.0:0.0	.	127;466;466;466;466	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	466;466;466;127;466	ENSP00000358288:D466Y;ENSP00000251864:D466Y;ENSP00000358287:D466Y;ENSP00000402794:D127Y;ENSP00000358286:D466Y	ENSP00000251864:D466Y	D	+	1	0	TDRD1	115960341	0.184000	0.23200	0.763000	0.31416	0.653000	0.38743	2.407000	0.44565	2.637000	0.89404	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2	0	0	0	7	178	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	9.800873e-01	7	175	0	38	2								-9.594231	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.490000	0.210000	1.000000	0.440000	0.535166	0.490000	0	3.300000e-01	7.400000e-01
TDRD1	56165	broad.mit.edu	37	10	115985896	115985896	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115985896C>T	ENST00000369280.1	+	22	3556	c.3096C>T	c.(3094-3096)acC>acT	p.T1032T	TDRD1_ENST00000369281.2_Silent_p.T918T|TDRD1_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000251864.2_Silent_p.T1032T|TDRD1_ENST00000422662.1_Silent_p.T636T			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1			48		Colorectal(252;0.172)|Breast(234;0.188)			ACATTGAAACCCTGCCTCTTT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000369280.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2	1	0	1	80	313	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	1	80	310	0	75	2								-3.103346	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFAP1L2	84632	broad.mit.edu	37	10	116060340	116060340	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116060340C>A	ENST00000304129.4	-	14	1681	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S604I|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.S551I			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2			21		Colorectal(252;0.175)|Breast(234;0.231)			CTGTGCACTGCTGGGGCCATG	0.612000																								0							SO:0001583	missense			ENST00000304129.4	0	1	hg19	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122432	0.37436	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.14766	2.49;2.49;2.48	5.61	0.381	0.16228	.	0.674836	0.16406	N	0.215834	T	0.19644	0.0472	M	0.65975	2.015	0.09310	N	1	P;B;B;D;B;P;P	0.54601	0.518;0.178;0.384;0.967;0.253;0.898;0.836	B;B;B;P;B;B;B	0.53593	0.299;0.086;0.157;0.73;0.168;0.425;0.244	T	0.08868	-1.0701	10	0.48119	T	0.1	-1.7918	2.9216	0.05771	0.1239:0.5535:0.12:0.2026	.	604;117;605;73;579;551;551	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	I	551;551;578;604	ENSP00000358276:S551I;ENSP00000303042:S551I;ENSP00000444511:S604I	ENSP00000303042:S551I	S	-	2	0	AFAP1L2	116050330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.106000	0.10890	0.044000	0.15775	-0.123000	0.14984	AGC		TCGA-IB-7651-01A-11D-2154-08	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	0	0	0	12	338	0	65	0	1.958697e-01	0	22	0	65	2		0	0	0	0	0	2	1	9.990769e-01	11	334	0	65	2								-12.438340	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.430000	0.220000	1.000000	0.400000	0.478296	0.430000	0	3.100000e-01	6.000000e-01
AFAP1L2	84632	broad.mit.edu	37	10	116092980	116092980	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116092980C>A	ENST00000304129.4	-	3	249	c.220G>T	c.(220-222)Gcg>Tcg	p.A74S	AFAP1L2_ENST00000545353.1_Splice_Site_p.A74S|AFAP1L2_ENST00000369271.3_Splice_Site_p.A74S			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2			21		Colorectal(252;0.175)|Breast(234;0.231)			AGCCTCATACCTTTGCCTTGA	0.522000																								0							SO:0001630	splice_region_variant			ENST00000304129.4	1	0	hg19	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746237	0.30955	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.37	5.37	0.77165	.	2.007730	0.01932	N	0.041313	T	0.44180	0.1281	N	0.25647	0.755	0.28073	N	0.932482	B;B;B;B;B	0.19583	0.018;0.01;0.026;0.037;0.022	B;B;B;B;B	0.17722	0.017;0.005;0.019;0.008;0.004	T	0.34229	-0.9837	9	.	.	.	-2.2251	16.4023	0.83644	0.0:1.0:0.0:0.0	.	74;74;74;74;74	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	S	74;74;73;92;74;92	ENSP00000358276:A74S;ENSP00000303042:A74S;ENSP00000444511:A74S;ENSP00000396781:A92S	.	A	-	1	0	AFAP1L2	116082970	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.681000	0.61663	2.673000	0.90976	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	1	0	1	89	365	0	98	1	9.609680e-01	3	21	0	98	2		0	0	0	0	0	2	1	1	87	357	0	98	2								-3.469619	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABLIM1	3983	broad.mit.edu	37	10	116196108	116196108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116196108G>A	ENST00000277895.5	-	23	2345	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R690W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R690W	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1			30		Colorectal(252;0.0373)|Breast(234;0.231)			AAGATTTCCCGAAACACTTCA	0.453000																								0							SO:0001583	missense			ENST00000277895.5	1	1	hg19	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438391	0.43326	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	T;T;T;T	0.31769	1.64;1.48;1.64;1.48	5.95	4.08	0.47627	Villin headpiece (5);	0.511140	0.22513	N	0.059068	T	0.23727	0.0574	L	0.32530	0.975	0.28110	N	0.931034	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.10450	0.001;0.001;0.005;0.003	T	0.14587	-1.0467	10	0.51188	T	0.08	.	10.343	0.43891	0.1527:0.0:0.8473:0.0	.	690;718;750;427	F8W8M4;A6NKJ2;O14639;O14639-5	.;.;ABLM1_HUMAN;.	W	750;690;427;373;718;690;818;674;427;674;627;818;502	ENSP00000358256:R690W;ENSP00000376679:R427W;ENSP00000433629:R690W;ENSP00000358270:R427W	ENSP00000277895:R818W	R	-	1	2	ABLIM1	116186098	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.808000	0.55598	0.832000	0.34804	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3	1	0	1	74	348	0	84	1	1	50	86	0	84	2		0	0	0	0	0	2	1	1	74	339	0	81	2								-3.271765	1	1	121412	2	34	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABLIM1	3983	broad.mit.edu	37	10	116203826	116203826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116203826G>A	ENST00000277895.5	-	17	1992	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S572F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S572F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1			30		Colorectal(252;0.0373)|Breast(234;0.231)			GGCTAACAGAGATGACCTTTC	0.463000																								0							SO:0001583	missense			ENST00000277895.5	1	1	hg19	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.089915|2.089915	0.36855|0.36855	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.31510	.|1.49;1.49;1.49;1.49	5.38|5.38	3.41|3.41	0.39046|0.39046	.|.	.|0.709815	.|0.13934	.|N	.|0.352708	T|T	0.33294|0.33294	0.0858|0.0858	M|M	0.69823|0.69823	2.125|2.125	0.19575|0.19575	N|N	0.999963|0.999963	.|B;B;B;B;B;B;B;B;B	.|0.32338	.|0.072;0.072;0.365;0.004;0.013;0.323;0.25;0.044;0.137	.|B;B;B;B;B;B;B;B;B	.|0.37451	.|0.012;0.026;0.201;0.004;0.015;0.25;0.127;0.021;0.072	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.20046	.|T	.|0.44	.|.	8.4459|8.4459	0.32841|0.32841	0.0781:0.0:0.77:0.152|0.0781:0.0:0.77:0.152	.|.	.|509;234;572;600;632;309;602;556;255	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	F|F	506|632;572;309;255;600;572;700;556;309;556;509;700;384	.|ENSP00000358256:S572F;ENSP00000376679:S309F;ENSP00000433629:S572F;ENSP00000358270:S309F	.|ENSP00000277895:S700F	L|S	-|-	1|2	0|0	ABLIM1|ABLIM1	116193816|116193816	0.988000|0.988000	0.35896|0.35896	0.013000|0.013000	0.15412|0.15412	0.975000|0.975000	0.68041|0.68041	2.994000|2.994000	0.49433|0.49433	1.271000|1.271000	0.44313|0.44313	0.591000|0.591000	0.81541|0.81541	CTC|TCT		TCGA-IB-7651-01A-11D-2154-08	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3	1	0	1	128	494	0	122	1	1	75	106	0	122	2		0	0	0	0	0	2	1	1	126	478	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABLIM1	3983	broad.mit.edu	37	10	116417899	116417899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116417899C>A	ENST00000277895.5	-	1	158	c.61G>T	c.(61-63)Gtc>Ttc	p.V21F	ABLIM1_ENST00000533213.2_Intron|snoU13_ENST00000458910.1_RNA|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1			30		Colorectal(252;0.0373)|Breast(234;0.231)			GATGAGGTGACTTTGCTTTTC	0.527000																								0							SO:0001583	missense			ENST00000277895.5	1	1	hg19	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130659	0.37630	.	.	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.30981	1.51	5.77	3.69	0.42338	.	1.498440	0.04411	N	0.366045	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999999	B	0.26400	0.148	B	0.21360	0.034	T	0.18272	-1.0342	10	0.66056	D	0.02	.	8.7105	0.34380	0.0:0.7413:0.1546:0.1041	.	21	O14639	ABLM1_HUMAN	F	21	ENSP00000277895:V21F	ENSP00000277895:V21F	V	-	1	0	ABLIM1	116407889	0.028000	0.19301	0.282000	0.24776	0.833000	0.47200	1.322000	0.33689	1.443000	0.47586	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3	1	0	1	101	472	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	99	470	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM160B1	57700	broad.mit.edu	37	10	116595962	116595962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116595962C>T	ENST00000369248.4	+	5	814	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1			25					ATTGTGTGTGCGAAGCTGAAA	0.338000																								0							SO:0001583	missense			ENST00000369248.4	1	1	hg19	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560340	0.96527	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.29655	1.56;1.56	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.56769	1.78	0.80722	D	1	P;D	0.76494	0.709;0.999	B;P	0.60789	0.079;0.879	T	0.27739	-1.0065	10	0.13470	T	0.59	-20.6102	18.7711	0.91892	0.0:1.0:0.0:0.0	.	160;160	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	V	160	ENSP00000358251:A160V;ENSP00000358253:A160V	ENSP00000358251:A160V	A	+	2	0	FAM160B1	116585952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.419000	0.82065	0.585000	0.79938	GCG		TCGA-IB-7651-01A-11D-2154-08	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	1	0	1	212	955	0	271	1	9.992455e-01	17	32	0	271	2		0	0	0	0	0	2	1	1	206	940	0	270	2								-20.000000	1	1	121412	2	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRUB1	142940	broad.mit.edu	37	10	116710908	116710908	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116710908G>A	ENST00000298746.3	+	3	502	c.441G>A	c.(439-441)aaG>aaA	p.K147K	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1			12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)			CAGGGTCCAAGGTAAGAATAC	0.303000																								0							SO:0001630	splice_region_variant			ENST00000298746.3	1	0	hg19	CCDS7591.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	1	0	0	34	444	0	93	0	9.583887e-01	0	70	0	93	2		0	0	0	0	0	2	1	1	34	434	0	93	2								-3.017763	1	1	121410	1	30	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.860000	0.600000	1.000000	1.000000	0.856780	0.860000	1	7.200000e-01	1
ATRNL1	26033	broad.mit.edu	37	10	116925332	116925332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116925332G>T	ENST00000355044.3	+	7	1145	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1			95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)			AATTTAGAAAGCAGTATATGG	0.323000																								0							SO:0001583	missense			ENST00000355044.3	1	1	hg19	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255337	0.80135	.	.	ENSG00000107518	ENST00000355044	T	0.68331	-0.32	5.65	4.69	0.59074	.	0.036729	0.85682	D	0.000000	T	0.77370	0.4120	M	0.65975	2.015	0.80722	D	1	P;D	0.61080	0.933;0.989	B;P	0.61201	0.441;0.885	T	0.79502	-0.1777	10	0.66056	D	0.02	-9.9627	13.3729	0.60723	0.0818:0.0:0.9182:0.0	.	340;340	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	I	340	ENSP00000347152:S340I	ENSP00000347152:S340I	S	+	2	0	ATRNL1	116915322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.321000	0.51999	1.253000	0.44018	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	1	0	1	31	180	0	54	0	1.105554e-01	0	4	0	54	2		0	0	0	0	0	2	1	1	30	175	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999925	0.990000	1	9.900000e-01	1
ATRNL1	26033	broad.mit.edu	37	10	117024714	117024714	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117024714G>T	ENST00000355044.3	+	11	1858	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1			95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)			TCTTCATAGAGATGTCAACAG	0.313000																								0							SO:0001583	missense			ENST00000355044.3	1	1	hg19	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123123	0.77436	.	.	ENSG00000107518	ENST00000355044	T	0.15139	2.45	4.69	4.69	0.59074	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57528	-0.7796	10	0.72032	D	0.01	-26.3301	17.974	0.89121	0.0:0.0:1.0:0.0	.	578	Q5VV63	ATRN1_HUMAN	Y	578	ENSP00000347152:D578Y	ENSP00000347152:D578Y	D	+	1	0	ATRNL1	117014704	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.198000	0.94994	2.307000	0.77673	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	1	0	1	81	318	0	110	0	0	0	1	0	110	2		0	0	0	0	0	2	1	1	77	310	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATRNL1	26033	broad.mit.edu	37	10	117026306	117026306	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117026306T>C	ENST00000355044.3	+	12	1931	c.1805T>C	c.(1804-1806)gTa>gCa	p.V602A		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1			95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)			TTTTCTAGTGTACTCCTTAAT	0.333000																								0							SO:0001583	missense			ENST00000355044.3	1	1	hg19	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975012	0.53720	.	.	ENSG00000107518	ENST00000355044	T	0.29397	1.57	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.053328	0.64402	D	0.000001	T	0.26557	0.0649	L	0.36672	1.1	0.80722	D	1	B	0.26975	0.165	B	0.28385	0.089	T	0.05632	-1.0873	10	0.16896	T	0.51	-20.4802	16.0865	0.81056	0.0:0.0:0.0:1.0	.	602	Q5VV63	ATRN1_HUMAN	A	602	ENSP00000347152:V602A	ENSP00000347152:V602A	V	+	2	0	ATRNL1	117016296	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.782000	0.68973	2.194000	0.70268	0.377000	0.23210	GTA		TCGA-IB-7651-01A-11D-2154-08	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	0	0	0	13	370	0	101	0	0	0	1	0	101	2		0	0	0	0	0	2	1	9.995120e-01	13	365	0	101	2								-13.350430	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.420000	0.230000	1.000000	0.400000	0.472637	0.420000	0	3.100000e-01	5.900000e-01
ATRNL1	26033	broad.mit.edu	37	10	117093850	117093850	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117093850A>C	ENST00000355044.3	+	19	3222	c.3096A>C	c.(3094-3096)aaA>aaC	p.K1032N	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1			95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)			AACAGTGTAAAAATCTCACCA	0.368000																								0							SO:0001583	missense			ENST00000355044.3	1	1	hg19	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960285	0.34565	.	.	ENSG00000107518	ENST00000355044	T	0.64260	-0.09	5.45	4.32	0.51571	EGF-like, laminin (3);	0.047709	0.85682	D	0.000000	T	0.50120	0.1597	L	0.47078	1.49	0.80722	D	1	B	0.23650	0.089	B	0.19391	0.025	T	0.38929	-0.9638	10	0.21540	T	0.41	-18.1281	8.1716	0.31258	0.8428:0.0:0.1572:0.0	.	1032	Q5VV63	ATRN1_HUMAN	N	1032	ENSP00000347152:K1032N	ENSP00000347152:K1032N	K	+	3	2	ATRNL1	117083840	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	1.014000	0.39417	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	0	0	0	9	294	0	65	0	1.170935e-03	0	2	0	65	2		0	0	0	0	0	2	1	9.942310e-01	9	292	0	65	2								-10.338770	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.370000	0.180000	1.000000	0.350000	0.432964	0.370000	0	2.600000e-01	5.500000e-01
WDR37	22884	broad.mit.edu	37	10	1175231	1175231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1175231C>T	ENST00000358220.1	+	14	1576	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	WDR37_ENST00000263150.4_Missense_Mutation_p.R478W			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37			17		all_epithelial(10;0.0449)|Colorectal(49;0.142)			TGGGTTTGACCGGCAAGCCAT	0.502000																								0							SO:0001583	missense			ENST00000358220.1	1	1	hg19	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265075	0.80358	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01379	4.96;4.96	5.72	2.29	0.28610	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	T	0.02294	-1.1181	10	0.87932	D	0	.	16.0685	0.80907	0.2373:0.7627:0.0:0.0	.	479;478	A8K976;Q9Y2I8	.;WDR37_HUMAN	W	478	ENSP00000350954:R478W;ENSP00000263150:R478W	ENSP00000263150:R478W	R	+	1	2	WDR37	1165231	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	3.468000	0.53086	0.482000	0.27582	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	1	0	1	46	245	0	46	1	9.986806e-01	12	44	0	46	2		0	0	0	0	0	2	1	1	44	243	0	46	2								-2.983428	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GFRA1	2674	broad.mit.edu	37	10	117856270	117856270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117856270C>T	ENST00000355422.6	-	7	1326	c.776G>A	c.(775-777)cGc>cAc	p.R259H	GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R254H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1			26		Lung NSC(174;0.21)			ATCCGCAAGGCGAGATCTACA	0.473000													Ovarian(128;329 1725 45498 46808 50759)											0							SO:0001583	missense			ENST00000355422.6	1	1	hg19	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413916	0.96072	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.64085	-0.08;-0.08	5.93	5.93	0.95920	GDNF/GAS1 (2);	0.048834	0.85682	D	0.000000	T	0.79215	0.4408	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.941	T	0.78773	-0.2073	10	0.52906	T	0.07	-33.882	18.5344	0.91004	0.0:1.0:0.0:0.0	.	259;254	P56159;P56159-2	GFRA1_HUMAN;.	H	259;254;254;138;254	ENSP00000358239:R254H;ENSP00000442179:R138H	ENSP00000347591:R254H	R	-	2	0	GFRA1	117846260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.420000	0.80191	2.826000	0.97356	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	1	0	1	17	69	0	27	0	1.115935e-01	0	3	0	27	2		0	0	0	0	0	2	1	9.999805e-01	17	68	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
GFRA1	2674	broad.mit.edu	37	10	117884933	117884933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117884933C>T	ENST00000355422.6	-	6	1119	c.569G>A	c.(568-570)cGc>cAc	p.R190H	GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R185H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1			26		Lung NSC(174;0.21)			GTGGCACTTGCGGCGGTTGCA	0.607000													Ovarian(128;329 1725 45498 46808 50759)											0							SO:0001583	missense			ENST00000355422.6	1	1	hg19	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273572	0.95459	2.27E-4	0.0	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.63913	-0.07;-0.07	5.85	5.85	0.93711	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.965	T	0.71411	-0.4601	10	0.36615	T	0.2	-33.0593	20.1775	0.98187	0.0:1.0:0.0:0.0	.	190;185	P56159;P56159-2	GFRA1_HUMAN;.	H	190;185;185;69;185	ENSP00000358239:R185H;ENSP00000442179:R69H	ENSP00000347591:R185H	R	-	2	0	GFRA1	117874923	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.851000	0.62896	2.771000	0.95319	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	1	0	1	55	184	0	52	0	1.370352e-01	0	3	0	52	2		0	0	0	0	0	2	1	1	53	182	0	51	2								-3.908424	1	1	121412	2	37	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECHDC3	79746	broad.mit.edu	37	10	11797423	11797423	+	Missense_Mutation	SNP	G	G	A	rs144927894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11797423G>A	ENST00000379215.4	+	4	618	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3			4					ATGCACATCCGGAACCACCCC	0.537000																								0							SO:0001583	missense			ENST00000379215.4	1	1	hg19	CCDS7084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.169	-0.170462	0.06461	9.08E-4	0.0	ENSG00000134463	ENST00000379215;ENST00000420401;ENST00000422887	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	1.19	0.21007	Crotonase, core (1);	0.119864	0.64402	N	0.000013	T	0.34454	0.0898	N	0.05554	-0.025	0.45648	D	0.998573	B	0.12013	0.005	B	0.11329	0.006	T	0.07462	-1.0771	10	0.10902	T	0.67	.	9.3626	0.38206	0.8717:0.0:0.1283:0.0	.	136	Q96DC8	ECHD3_HUMAN	Q	136;189;63	ENSP00000368517:R136Q;ENSP00000405584:R189Q;ENSP00000398429:R63Q	ENSP00000368517:R136Q	R	+	2	0	ECHDC3	11837429	1.000000	0.71417	0.997000	0.53966	0.468000	0.32798	3.431000	0.52814	-0.001000	0.14495	-0.948000	0.02665	CGG		TCGA-IB-7651-01A-11D-2154-08	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	1	0	1	44	194	0	48	0	9.983600e-01	0	46	0	48	2		0	0	0	0	0	2	1	1	44	186	0	48	2								-3.173216	1	1	121412	12	41	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECHDC3	79746	broad.mit.edu	37	10	11805264	11805264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11805264C>T	ENST00000379215.4	+	5	844	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3			4					CCATTTCTGCCCAGGAGGCCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000379215.4	1	1	hg19	CCDS7084.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	1	0	1	35	151	0	33	0	9.575187e-01	0	25	0	33	2		0	0	0	0	0	2	1	1	35	149	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNLIPRP3	119548	broad.mit.edu	37	10	118231349	118231349	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118231349T>C	ENST00000369230.3	+	10	1276	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3			50					TTTCTTCGTGTAGGCGGGGCA	0.478000																								0							SO:0001583	missense			ENST00000369230.3	1	1	hg19	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970902	0.53614	.	.	ENSG00000203837	ENST00000369230	T	0.72282	-0.64	4.18	4.18	0.49190	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.073260	0.07498	N	0.906784	T	0.70254	0.3203	L	0.51422	1.61	0.09310	N	1	B	0.33549	0.417	B	0.38296	0.27	T	0.62923	-0.6751	10	0.87932	D	0	.	11.2943	0.49269	0.0:0.0:0.0:1.0	.	377	Q17RR3	LIPR3_HUMAN	A	377	ENSP00000358232:V377A	ENSP00000358232:V377A	V	+	2	0	PNLIPRP3	118221339	0.028000	0.19301	0.038000	0.18304	0.022000	0.10575	3.283000	0.51701	1.848000	0.53677	0.482000	0.46254	GTA		TCGA-IB-7651-01A-11D-2154-08	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	1	0	1	89	502	0	137	0	6.256294e-02	0	3	0	137	2		0	0	0	0	0	2	1	1	91	491	0	137	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNLIP	5406	broad.mit.edu	37	10	118307977	118307977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118307977C>A	ENST00000369221.2	+	4	335	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase			43				Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.433000																								0							SO:0001583	missense			ENST00000369221.2	1	1	hg19	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072303	0.36566	.	.	ENSG00000175535	ENST00000369221	D	0.91180	-2.8	5.39	3.51	0.40186	Lipase, N-terminal (1);	0.555568	0.16090	N	0.230103	D	0.91663	0.7365	L	0.46157	1.445	0.40797	D	0.983309	D	0.76494	0.999	D	0.75484	0.986	D	0.88885	0.3342	10	0.33940	T	0.23	.	7.0787	0.25219	0.1402:0.7053:0.0:0.1544	.	103	P16233	LIPP_HUMAN	M	103	ENSP00000358223:L103M	ENSP00000358223:L103M	L	+	1	2	PNLIP	118297967	0.393000	0.25237	0.981000	0.43875	0.485000	0.33311	-0.281000	0.08456	1.517000	0.48917	0.585000	0.79938	CTG		TCGA-IB-7651-01A-11D-2154-08	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	1	0	1	121	558	0	112	0	1	0	1457	0	112	2		0	0	0	0	0	2	1	1	117	550	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNLIPRP2	5408	broad.mit.edu	37	10	118380475	118380475	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118380475G>A	ENST00000298771.7	+	0	11				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2			16					GTGAGTGGAAGCTCTGGTGCA	0.597000																								0											ENST00000298771.7	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	0	0	0	15	56	0	25	0	5.035172e-02	0	2	0	25	2		0	0	0	0	0	2	1	9.999250e-01	15	55	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999872	0.990000	1	9.900000e-01	1
PNLIPRP2	5408	broad.mit.edu	37	10	118385552	118385552	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118385552G>A	ENST00000298771.7	+	0	325				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2			16					TAGACAAGGCGGAGGACAGCT	0.547000																								0											ENST00000298771.7	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	0	0	1	25	135	0	23	0	9.581006e-01	0	31	0	23	2		0	0	0	0	0	2	1	9.999999e-01	24	132	0	23	2								-3.263121	1	1	121246	5	39	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999894	0.990000	1	9.900000e-01	1
PNLIPRP2	5408	broad.mit.edu	37	10	118394364	118394364	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118394364T>G	ENST00000298771.7	+	0	855				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2			16					ATTGGTGGCTTTGTGTCTTGC	0.468000																								0											ENST00000298771.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	8.513	0.866972	0.17250	.	.	ENSG00000165862	ENST00000537242	D	0.91740	-2.9	5.29	2.92	0.33932	Lipase, N-terminal (1);	0.224285	0.30374	U	0.009767	D	0.94420	0.8205	.	.	.	0.24291	N	0.995166	D	0.89917	1.0	D	0.77004	0.989	D	0.87305	0.2308	9	0.72032	D	0.01	.	6.9395	0.24484	0.1331:0.0745:0.0:0.7925	.	277	P54317	LIPR2_HUMAN	C	277	ENSP00000446346:F277C	ENSP00000446346:F277C	F	+	2	0	PNLIPRP2	118384354	0.931000	0.31567	0.208000	0.23602	0.002000	0.02628	1.212000	0.32394	0.400000	0.25396	-0.561000	0.04177	TTT		TCGA-IB-7651-01A-11D-2154-08	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	0	0	0	9	199	0	40	0	3.156758e-01	0	24	0	40	2		0	0	0	0	0	2	1	9.942741e-01	9	197	0	40	2								-4.316591	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.540000	0.260000	1.000000	0.500000	0.587667	0.540000	0	3.800000e-01	8.000000e-01
PNLIPRP2	5408	broad.mit.edu	37	10	118404618	118404618	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118404618G>A	ENST00000298771.7	+	0	1445				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2			16					AAAACGTGGTGCAGCTATTGC	0.398000																								0											ENST00000298771.7	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	0	0	0	12	82	0	26	0	5.677927e-01	0	14	0	26	2		0	0	0	0	0	2	1	9.991797e-01	12	79	0	26	2								-19.745510	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.990794	0.990000	1	9.900000e-01	1
HSPA12A	259217	broad.mit.edu	37	10	118434865	118434865	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118434865G>A	ENST00000369209.3	-	12	1559	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A			32					GGGGCGCCTCGGCAAAGCCGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000369209.3	1	1	hg19	CCDS41569.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	1	0	1	30	104	0	25	0	6.887019e-01	0	10	0	25	2		0	0	0	0	0	2	1	1	30	101	0	25	2								-20.000000	1	1	120780	1	24	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA12A	259217	broad.mit.edu	37	10	118458251	118458251	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118458251C>A	ENST00000369209.3	-	5	546		c.e5-1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A			32					TGGTGAGGTCCTGGTAGGAGG	0.507000																								0							SO:0001630	splice_region_variant			ENST00000369209.3	1	1	hg19	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844608	0.71488	.	.	ENSG00000165868	ENST00000369209	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6322	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA12A	118448241	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.803000	0.85983	2.652000	0.90054	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	1	0	1	103	423	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	103	417	0	91	2								-3.255941	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1598	57698	broad.mit.edu	37	10	118645867	118645867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118645867G>A	ENST00000355371.4	-	17	2381	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	KIAA1598_ENST00000260777.10_3'UTR|KIAA1598_ENST00000497044.1_5'UTR|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000392903.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598			10					AGCAGTTGGAGCTGTCTGTCT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000355371.4	0	1	hg19	CCDS44482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	4	21	0	8	1	9.997334e-01	19	131	0	8	2		0	0	0	0	0	2	1	8.861630e-01	3	21	0	8	2								-10.622480	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.620000	1.000000	1.000000	0.969813	0.990000	1	9.900000e-01	1
KIAA1598	57698	broad.mit.edu	37	10	118671334	118671334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118671334G>A	ENST00000355371.4	-	14	1823	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	KIAA1598_ENST00000260777.10_Silent_p.C442C|KIAA1598_ENST00000392901.4_Silent_p.C382C|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.C442C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598			10					CTGCACTTTCGCAGCCTTTCG	0.299000																								0							SO:0001819	synonymous_variant			ENST00000355371.4	1	1	hg19	CCDS44482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	51	240	0	99	1	9.999974e-01	16	77	0	99	2		0	0	0	0	0	2	1	1	50	232	0	98	2								-20.000000	1	1	121396	5	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1598	57698	broad.mit.edu	37	10	118738812	118738812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738812G>A	ENST00000355371.4	-	2	563	c.66C>T	c.(64-66)ggC>ggT	p.G22G	KIAA1598_ENST00000260777.10_Silent_p.G22G|KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.G22G	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598			10					CTTCATATTCGCCTATTGCTA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000355371.4	1	1	hg19	CCDS44482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1	41	258	0	84	1	9.999594e-01	17	81	0	84	2		0	0	0	0	0	2	1	1	39	249	0	83	2								-18.528800	1	1	121410	2	37	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999950	0.990000	1	9.900000e-01	1
KIAA1598	57698	broad.mit.edu	37	10	118738814	118738814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738814C>A	ENST00000355371.4	-	2	561	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C|KIAA1598_ENST00000392901.4_De_novo_Start_OutOfFrame|KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598			10					TCATATTCGCCTATTGCTAAA	0.398000																								0							SO:0001583	missense			ENST00000355371.4	1	0	hg19	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836339	0.71373	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	D;D;D	0.91631	-2.88;-2.88;-2.88	6.07	6.07	0.98685	.	0.291016	0.34362	N	0.004035	D	0.92721	0.7686	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93178	0.6572	10	0.59425	D	0.04	-10.5094	16.1594	0.81686	0.0:1.0:0.0:0.0	.	22;22	A0MZ66;A0MZ66-2	SHOT1_HUMAN;.	C	22	ENSP00000376636:G22C;ENSP00000260777:G22C;ENSP00000347532:G22C	ENSP00000260777:G22C	G	-	1	0	KIAA1598	118728804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.029000	0.57253	2.885000	0.99019	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	39	255	0	85	1	9.999247e-01	17	79	0	85	2		0	0	0	0	0	2	1	1	37	246	0	84	2								-3.143366	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999875	0.990000	1	9.900000e-01	1
VAX1	11023	broad.mit.edu	37	10	118896084	118896084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118896084C>A	ENST00000369206.5	-	2	327	c.328G>T	c.(328-330)Gag>Tag	p.E110*	VAX1_ENST00000277905.2_Nonsense_Mutation_p.E110*	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1			12					TAGAGCTGCTCCGCGGTGAAG	0.652000																								0							SO:0001587	stop_gained			ENST00000369206.5	0	1	hg19	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908892	0.92107	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	.	.	.	4.03	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.2658	13.3785	0.60754	0.0:0.8404:0.1596:0.0	.	.	.	.	X	110	.	ENSP00000277905:E110X	E	-	1	0	VAX1	118886074	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	5.529000	0.67135	0.845000	0.35118	0.455000	0.32223	GAG		TCGA-IB-7651-01A-11D-2154-08	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	1	0	1	67	254	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	66	242	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK18	338567	broad.mit.edu	37	10	118960693	118960693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118960693C>T	ENST00000334549.1	+	2	247	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18			41		Colorectal(252;0.19)			AAAACAGGATCTCCAGGGGCA	0.517000																								0							SO:0001583	missense			ENST00000334549.1	1	1	hg19	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694040	0.15039	.	.	ENSG00000186795	ENST00000334549	T	0.16324	2.35	4.34	-2.37	0.06643	.	0.703620	0.13804	N	0.361593	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	P	0.45283	0.855	B	0.35859	0.212	T	0.40098	-0.9581	10	0.19590	T	0.45	.	8.3945	0.32548	0.0971:0.318:0.5131:0.0718	.	83	Q7Z418	KCNKI_HUMAN	F	83	ENSP00000334650:L83F	ENSP00000334650:L83F	L	+	1	0	KCNK18	118950683	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.261000	0.08694	-0.423000	0.07394	-0.176000	0.13171	CTC		TCGA-IB-7651-01A-11D-2154-08	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	1	0	1	173	787	0	202		0	0	0	0	202	2		0	0	0	0	0	2	1	1	169	775	0	202	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC18A2	6571	broad.mit.edu	37	10	119003516	119003516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003516G>A	ENST00000298472.5	+	3	299	c.156G>A	c.(154-156)aaG>aaA	p.K52K	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2			29		Colorectal(252;0.19)		Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACAGCATTAAGCATGAGAAGA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000298472.5	1	1	hg19	CCDS7599.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	1	0	1	30	124	0	32	0	6.128739e-01	0	10	0	32	2		0	0	0	0	0	2	1	1	27	120	0	31	2								-19.400150	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLC18A2	6571	broad.mit.edu	37	10	119003809	119003809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003809G>A	ENST00000298472.5	+	3	592	c.449G>A	c.(448-450)gGa>gAa	p.G150E	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2			29		Colorectal(252;0.19)		Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTTTCATAGGACTACTGACC	0.448000																								0							SO:0001583	missense			ENST00000298472.5	1	1	hg19	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815283	0.90790	.	.	ENSG00000165646	ENST00000298472	T	0.73469	-0.75	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91690	0.5365	10	0.87932	D	0	-11.3411	18.0482	0.89340	0.0:0.0:1.0:0.0	.	150	Q05940	VMAT2_HUMAN	E	150	ENSP00000298472:G150E	ENSP00000298472:G150E	G	+	2	0	SLC18A2	118993799	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	1	0	1	23	104	0	29	0	7.128623e-01	0	13	0	29	2		0	0	0	0	0	2	1	9.999997e-01	21	104	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
PDZD8	118987	broad.mit.edu	37	10	119134343	119134343	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119134343C>A	ENST00000334464.5	-	1	635	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8			38		Colorectal(252;0.19)			CCGTCTTGGTCTGCAGCAGCT	0.662000																								0							SO:0001583	missense			ENST00000334464.5	0	1	hg19	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799060	0.90538	.	.	ENSG00000165650	ENST00000334464	D	0.86366	-2.11	4.44	4.44	0.53790	.	0.067759	0.64402	D	0.000010	D	0.92071	0.7487	L	0.57536	1.79	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.92922	0.6356	10	0.66056	D	0.02	-9.667	17.3371	0.87285	0.0:1.0:0.0:0.0	.	132	Q8NEN9	PDZD8_HUMAN	H	132	ENSP00000334642:Q132H	ENSP00000334642:Q132H	Q	-	3	2	PDZD8	119124333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.110000	0.57831	2.299000	0.77371	0.644000	0.83932	CAG		TCGA-IB-7651-01A-11D-2154-08	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	0	0	0	8	363	0	71	1	4.597260e-01	5	61	0	71	2		0	0	0	0	0	2	1	9.885800e-01	8	355	0	67	2								-7.777556	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.270000	0.120000	1.000000	0.250000	0.340731	0.270000	0	1.900000e-01	4.200000e-01
EMX2	2018	broad.mit.edu	37	10	119302963	119302963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119302963G>A	ENST00000553456.3	+	1	1009	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.G62D|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2			12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)			gccggTAGGGGCGTCTACTCC	0.721000																								0							SO:0001583	missense			ENST00000553456.3	1	1	hg19	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826475	0.32329	.	.	ENSG00000170370;ENSG00000258614	ENST00000369201;ENST00000553456	D	0.91843	-2.92	5.91	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	N	0.08118	0	0.80722	D	1	B;B	0.33413	0.049;0.411	B;B	0.26517	0.04;0.07	T	0.81788	-0.0772	10	0.39692	T	0.17	-16.1459	15.1126	0.72372	0.0676:0.0:0.9324:0.0	.	62;62	G3V305;Q04743	.;EMX2_HUMAN	D	62	ENSP00000450962:G62D	ENSP00000358202:G62D	G	+	2	0	AC005871.1;EMX2	119292953	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.389000	0.66255	1.506000	0.48736	0.643000	0.83706	GGC		TCGA-IB-7651-01A-11D-2154-08	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	1	0	0	38	130	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	1	38	126	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB11FIP2	22841	broad.mit.edu	37	10	119799769	119799769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119799769G>A	ENST00000355624.3	-	2	1100	c.661C>T	c.(661-663)Cga>Tga	p.R221*	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)			19		Colorectal(252;0.235)			GACGAGAGTCGCTGAGGACCC	0.443000																								0							SO:0001587	stop_gained			ENST00000355624.3	0	1	hg19	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887967	0.91814	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.5	2.44	0.29823	.	0.237237	0.39210	N	0.001431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-12.2399	15.2537	0.73568	0.0:0.0:0.4982:0.5018	.	.	.	.	X	221	.	ENSP00000347839:R221X	R	-	1	2	RAB11FIP2	119789759	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.844000	0.48246	0.284000	0.22305	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	0	0	1	145	580	0	126	1	9.979175e-01	2	37	0	126	2		0	0	0	0	0	2	1	1	145	567	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UPF2	26019	broad.mit.edu	37	10	11984744	11984744	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11984744C>T	ENST00000356352.2	-	17	3771	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S|UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)			56		Renal(717;0.228)			TTAAGTCCACCGCCTTTAATC	0.333000																								0							SO:0001583	missense			ENST00000356352.2	1	1	hg19	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710862	0.68730	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053;ENST00000359268	T;T;T	0.42131	0.98;0.98;0.98	5.1	5.1	0.69264	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.47262	-0.9131	10	0.09338	T	0.73	.	18.8593	0.92266	0.0:1.0:0.0:0.0	.	1100	Q9HAU5	RENT2_HUMAN	S	1100;1100;1100;5	ENSP00000348708:G1100S;ENSP00000350221:G1100S;ENSP00000380244:G1100S	ENSP00000348708:G1100S	G	-	1	0	UPF2	12024750	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.202000	0.77856	2.535000	0.85469	0.557000	0.71058	GGT		TCGA-IB-7651-01A-11D-2154-08	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1	1	0	1	57	279	0	71	1	1	28	96	0	71	2		0	0	0	0	0	2	1	1	57	279	0	70	2								-2.881116	1	1	121410	1	25	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UPF2	26019	broad.mit.edu	37	10	11997479	11997479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11997479G>A	ENST00000356352.2	-	13	3075	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	UPF2_ENST00000357604.5_Missense_Mutation_p.R868C|UPF2_ENST00000397053.2_Missense_Mutation_p.R868C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)			56		Renal(717;0.228)			CTGCTGATGCGCCTCTGATTA	0.358000																								0							SO:0001583	missense			ENST00000356352.2	1	1	hg19	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960300	0.74016	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23950	1.88;1.88;1.88	5.17	5.17	0.71159	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68546	-0.5380	10	0.87932	D	0	.	12.3971	0.55391	0.0:0.0:0.7054:0.2946	.	868	Q9HAU5	RENT2_HUMAN	C	868	ENSP00000348708:R868C;ENSP00000350221:R868C;ENSP00000380244:R868C	ENSP00000348708:R868C	R	-	1	0	UPF2	12037485	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.203000	0.72137	2.413000	0.81919	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1	1	0	1	43	207	0	69	1	9.996378e-01	14	47	0	69	2		0	0	0	0	0	2	1	1	43	206	0	69	2								-3.143616	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRLHR	2834	broad.mit.edu	37	10	120353797	120353797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120353797G>A	ENST00000369169.1	-	1	959	c.960C>T	c.(958-960)tgC>tgT	p.C320C	PRLHR_ENST00000239032.2_Silent_p.C320C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor			12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)			CGAGCCAGTGGCAGAGCAGCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000369169.1	1	1	hg19	CCDS7606.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	1	0	1	96	331	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	1	92	325	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UPF2	26019	broad.mit.edu	37	10	12070779	12070779	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12070779G>A	ENST00000356352.2	-	2	1583	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	UPF2_ENST00000357604.5_Silent_p.D370D|UPF2_ENST00000397053.2_Silent_p.D370D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)			56		Renal(717;0.228)			GCTCCCTGTGGTCCCTTTTCA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000356352.2	1	1	hg19	CCDS7086.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1	1	0	1	90	345	0	67	1	9.999916e-01	29	38	0	67	2		0	0	0	0	0	2	1	1	89	340	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF3A	8661	broad.mit.edu	37	10	120830529	120830529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120830529G>A	ENST00000369144.3	-	5	737	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A			56		Lung NSC(174;0.094)|all_lung(145;0.123)			TGCGATAAGTGCATTCTCAAA	0.398000																								0							SO:0001583	missense			ENST00000369144.3	1	1	hg19	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244668	0.79912	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.41400	1.0;1.0	5.69	5.69	0.88448	.	0.000000	0.40908	D	0.000981	T	0.74038	0.3664	M	0.92784	3.345	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.80243	-0.1463	10	0.87932	D	0	-24.562	19.813	0.96554	0.0:0.0:1.0:0.0	.	204	Q14152	EIF3A_HUMAN	Y	204;170	ENSP00000358140:H204Y;ENSP00000438178:H170Y	ENSP00000358140:H204Y	H	-	1	0	EIF3A	120820519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.683000	0.91414	0.591000	0.81541	CAC		TCGA-IB-7651-01A-11D-2154-08	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	1	0	1	62	242	0	49	1	1	30	344	0	49	2		0	0	0	0	0	2	1	1	62	239	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS10	6001	broad.mit.edu	37	10	121286924	121286924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121286924C>A	ENST00000369101.3	-	1	65	c.38G>T	c.(37-39)aGc>aTc	p.S13I	RGS10_ENST00000369103.2_Missense_Mutation_p.S21I|RGS10_ENST00000392865.1_Missense_Mutation_p.S7I|RGS10_ENST00000469575.1_5'Flank			O43665	RGS10_HUMAN	regulator of G-protein signaling 10			6		Lung NSC(174;0.094)|all_lung(145;0.123)			ACTGCCATCGCTGTCGTGGAT	0.527000																								0							SO:0001583	missense			ENST00000369101.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.76	2.034845	0.35893	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.47528	0.85;0.84;0.84	5.63	4.73	0.59995	.	0.429106	0.24220	N	0.040450	T	0.29652	0.0740	N	0.08118	0	0.22489	N	0.999058	B;B;B	0.28880	0.226;0.226;0.145	B;B;B	0.34242	0.176;0.178;0.058	T	0.22521	-1.0214	10	0.25751	T	0.34	-10.5978	11.8905	0.52626	0.0:0.9179:0.0:0.0821	.	21;7;13	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	I	7;21;13	ENSP00000376605:S7I;ENSP00000358099:S21I;ENSP00000358097:S13I	ENSP00000358097:S13I	S	-	2	0	RGS10	121276914	0.227000	0.23707	0.039000	0.18376	0.655000	0.38815	1.434000	0.34958	1.516000	0.48900	0.551000	0.68910	AGC		TCGA-IB-7651-01A-11D-2154-08	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	1	0	1	47	264	0	62	1	9.999999e-01	28	107	0	62	2		0	0	0	0	0	2	1	1	47	258	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TIAL1	7073	broad.mit.edu	37	10	121342012	121342012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121342012C>T	ENST00000436547.2	-	3	231	c.187G>A	c.(187-189)Gct>Act	p.A63T	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000369093.2_Missense_Mutation_p.A80T	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1			13		Lung NSC(174;0.094)|all_lung(145;0.123)			GCTAATGCAGCAGCTGCATCT	0.378000																								0							SO:0001583	missense			ENST00000436547.2	1	1	hg19	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405115	0.62288	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049698	0.85682	D	0.000000	T	0.25680	0.0625	N	0.25825	0.765	0.80722	D	1	B;P	0.49559	0.009;0.925	B;P	0.59012	0.025;0.85	T	0.01476	-1.1345	10	0.09338	T	0.73	-16.3566	20.3018	0.98617	0.0:1.0:0.0:0.0	.	80;63	A8K4L9;Q01085	.;TIAR_HUMAN	T	80;63;24;24	ENSP00000358089:A80T;ENSP00000394902:A63T;ENSP00000403573:A24T;ENSP00000358082:A24T	ENSP00000358082:A24T	A	-	1	0	TIAL1	121332002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.799000	0.96334	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	1	0	1	119	518	0	145	1	1	60	150	0	145	2		0	0	0	0	0	2	1	1	119	510	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAG3	9531	broad.mit.edu	37	10	121429472	121429472	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429472C>A	ENST00000369085.3	+	2	596	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3			20		Lung NSC(174;0.109)|all_lung(145;0.142)			ATTCCCATTCCTGTGCTCCAT	0.637000																								0							SO:0001583	missense			ENST00000369085.3	1	1	hg19	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687358	0.88639	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	D;D	0.91894	-1.85;-2.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96290	0.9213	10	0.87932	D	0	-10.6369	19.1934	0.93677	0.0:1.0:0.0:0.0	.	97;97	O95817;Q53GY1	BAG3_HUMAN;.	H	97;39	ENSP00000358081:P97H;ENSP00000410036:P39H	ENSP00000358081:P97H	P	+	2	0	BAG3	121419462	1.000000	0.71417	0.796000	0.32109	0.852000	0.48524	7.059000	0.76684	2.536000	0.85505	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	1	0	1	62	890	0	192	1	9.998889e-01	28	158	0	192	2		0	0	0	0	0	2	1	1	60	870	0	188	2								-10.286040	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.780000	0.600000	1.000000	0.770000	0.796980	0.780000	0	6.800000e-01	9.100000e-01
BAG3	9531	broad.mit.edu	37	10	121429651	121429651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429651G>A	ENST00000369085.3	+	2	775	c.469G>A	c.(469-471)Gcg>Acg	p.A157T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3			20		Lung NSC(174;0.109)|all_lung(145;0.142)			GGTGGCAGCGGCGGCGGCAGC	0.677000																								0							SO:0001583	missense			ENST00000369085.3	1	1	hg19	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024051	0.19433	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.74737	-0.83;-0.87	5.28	4.36	0.52297	.	0.414011	0.28290	N	0.015893	T	0.66713	0.2817	L	0.53249	1.67	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12837	0.008;0.008	T	0.55108	-0.8192	10	0.30854	T	0.27	-2.4151	9.2785	0.37714	0.0737:0.0:0.7831:0.1432	.	157;157	O95817;Q53GY1	BAG3_HUMAN;.	T	157;99	ENSP00000358081:A157T;ENSP00000410036:A99T	ENSP00000358081:A157T	A	+	1	0	BAG3	121419641	1.000000	0.71417	0.016000	0.15963	0.045000	0.14185	3.823000	0.55715	1.195000	0.43115	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	1	0	1	60	336	0	52	1	1	43	118	0	52	2		0	0	0	0	0	2	1	1	60	333	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPP5F	22876	broad.mit.edu	37	10	121551041	121551041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551041C>T	ENST00000361976.2	+	4	494	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y|INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F			42		Lung NSC(174;0.109)|all_lung(145;0.142)			CTGTAAGAAGCATCATTTTGG	0.358000																								0							SO:0001583	missense			ENST00000361976.2	1	1	hg19	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669097	0.88348	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T	0.59772	0.74;0.24	5.63	5.63	0.86233	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.71036	2.16	0.80722	D	1	P;D	0.67145	0.889;0.996	P;D	0.75484	0.651;0.986	T	0.76539	-0.2922	10	0.56958	D	0.05	-25.1659	20.0344	0.97551	0.0:1.0:0.0:0.0	.	110;110	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	Y	110;110;14	ENSP00000354519:H110Y;ENSP00000358079:H110Y	ENSP00000354519:H110Y	H	+	1	0	INPP5F	121541031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.803000	0.96430	0.650000	0.86243	CAT		TCGA-IB-7651-01A-11D-2154-08	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	1	0	1	71	354	0	98	1	9.679807e-01	8	22	0	98	2		0	0	0	0	0	2	1	1	69	351	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPP5F	22876	broad.mit.edu	37	10	121551380	121551380	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551380G>T	ENST00000361976.2	+	5	610		c.e5-1		INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F			42		Lung NSC(174;0.109)|all_lung(145;0.142)			ATTTCTTATAGGTTAAGGAAA	0.343000																								0							SO:0001630	splice_region_variant			ENST00000361976.2	0	1	hg19	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855862	0.51376	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	.	.	.	5.67	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0496	0.71858	0.0686:0.0:0.9314:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5F	121541370	1.000000	0.71417	0.978000	0.43139	0.631000	0.37964	7.420000	0.80191	1.532000	0.49169	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	0	0	0	10	366	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.968486e-01	10	363	0	56	2								-3.255042	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.330000	0.160000	1.000000	0.310000	0.394323	0.330000	0	2.400000e-01	4.900000e-01
SEC23IP	11196	broad.mit.edu	37	10	121663749	121663749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121663749G>A	ENST00000369075.3	+	4	1133	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein			36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)			ACAGATAGTCGATTTATTCCC	0.423000																								0							SO:0001583	missense			ENST00000369075.3	1	1	hg19	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297463	0.81025	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.32023	1.47;1.47;1.47	5.46	5.46	0.80206	.	0.046877	0.85682	D	0.000000	T	0.48077	0.1480	M	0.79258	2.445	0.48901	D	0.999727	D;P	0.64830	0.994;0.908	P;B	0.54238	0.746;0.327	T	0.48352	-0.9043	10	0.51188	T	0.08	-23.302	12.9576	0.58438	0.074:0.0:0.926:0.0	.	143;354	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	Q	354;143;88	ENSP00000358071:R354Q;ENSP00000438773:R143Q;ENSP00000396906:R88Q	ENSP00000358071:R354Q	R	+	2	0	SEC23IP	121653739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.291000	0.72719	2.713000	0.92767	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1	1	0	1	68	249	0	73	1	1	31	117	0	73	2		0	0	0	0	0	2	1	1	66	244	0	71	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC23IP	11196	broad.mit.edu	37	10	121692654	121692654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692654G>A	ENST00000369075.3	+	17	2968	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein			36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)			ATACCTTTTCGCTCTTCAGAG	0.388000																								0							SO:0001583	missense			ENST00000369075.3	1	1	hg19	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927052	0.92389	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.41758	0.99;1.08	5.28	5.28	0.74379	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.67707	-0.5601	10	0.52906	T	0.07	-21.8137	19.2611	0.93968	0.0:0.0:1.0:0.0	.	755;966	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	T	966;755	ENSP00000358071:A966T;ENSP00000438773:A755T	ENSP00000358071:A966T	A	+	1	0	SEC23IP	121682644	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	9.420000	0.97426	2.625000	0.88918	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1	1	0	1	71	339	0	99	1	1	30	105	0	99	2		0	0	0	0	0	2	1	1	70	332	0	98	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC23IP	11196	broad.mit.edu	37	10	121692664	121692664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692664G>A	ENST00000369075.3	+	17	2978	c.2906G>A	c.(2905-2907)aGt>aAt	p.S969N	SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein			36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)			GCTCTTCAGAGTCACTTATGC	0.373000																								0							SO:0001583	missense			ENST00000369075.3	1	1	hg19	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670203	0.88348	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.44881	0.91;0.99	5.28	5.28	0.74379	DDHD (2);	0.038155	0.85682	D	0.000000	T	0.74160	0.3680	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81031	-0.1117	10	0.87932	D	0	-16.7504	19.2611	0.93968	0.0:0.0:1.0:0.0	.	758;969	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	N	969;758	ENSP00000358071:S969N;ENSP00000438773:S758N	ENSP00000358071:S969N	S	+	2	0	SEC23IP	121682654	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.296000	0.72751	2.625000	0.88918	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1	1	0	1	70	329	0	98	1	9.999996e-01	27	75	0	98	2		0	0	0	0	0	2	1	1	69	323	0	96	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC61A2	55176	broad.mit.edu	37	10	12197864	12197864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12197864G>A	ENST00000298428.9	+	7	639	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEC61A2_ENST00000379033.3_Missense_Mutation_p.A162T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T|SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)			14		Renal(717;0.228)			CCTCTTTATTGCCACCAACAT	0.498000																								0							SO:0001583	missense			ENST00000298428.9	1	1	hg19	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.493699|5.493699	0.96339|0.96339	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020|ENST00000419021	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.85737|0.85737	0.5766|0.5766	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D;P;D|.	0.64830|.	0.994;0.936;0.981|.	D;D;D|.	0.67382|.	0.909;0.921;0.951|.	D|D	0.87420|0.87420	0.2381|0.2381	9|5	0.41790|.	T|.	0.15|.	-12.905|-12.905	19.2577|19.2577	0.93952|0.93952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;184;184|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	T|Y	162;184;184;184|65	.|.	ENSP00000298428:A184T|.	A|C	+|+	1|2	0|0	SEC61A2|SEC61A2	12237870|12237870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.835000|9.835000	0.99442|0.99442	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GCC|TGC		TCGA-IB-7651-01A-11D-2154-08	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	1	0	1	212	914	0	206	1	7.693690e-01	2	12	0	206	2		0	0	0	0	0	2	1	1	205	898	0	206	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC61A2	55176	broad.mit.edu	37	10	12204260	12204260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12204260G>A	ENST00000298428.9	+	11	1305	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	SEC61A2_ENST00000379033.3_Missense_Mutation_p.D384N|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)			14		Renal(717;0.228)			GGGCCACCGAGATACCTCTAT	0.428000																								0							SO:0001583	missense			ENST00000298428.9	1	1	hg19	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.462134|3.462134	0.63513|0.63513	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560|ENST00000419021	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.79070|0.79070	0.4384|0.4384	M|M	0.78801|0.78801	2.425|2.425	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.24920|.	0.0;0.114;0.004|.	B;B;B|.	0.33620|.	0.036;0.167;0.074|.	T|T	0.80200|0.80200	-0.1481|-0.1481	9|6	0.51188|0.66056	T|D	0.08|0.02	-9.5732|-9.5732	19.1612|19.1612	0.93533|0.93533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	384;406;406|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	N|K	384;406;406;340;154|157	.|.	ENSP00000298428:D406N|ENSP00000402124:R157K	D|R	+|+	1|2	0|0	SEC61A2|SEC61A2	12244266|12244266	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.288000|0.288000	0.27193|0.27193	9.869000|9.869000	0.99810|0.99810	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAT|AGA		TCGA-IB-7651-01A-11D-2154-08	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	1	0	1	162	672	0	174	1	8.687630e-01	5	12	0	174	2		0	0	0	0	0	2	1	1	159	657	0	173	2								-20.000000	1	1	121412	5	40	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR11	55717	broad.mit.edu	37	10	122619695	122619695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122619695C>A	ENST00000263461.6	+	4	673	c.427C>A	c.(427-429)Ctc>Atc	p.L143I		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11			38					TTACATTGTGCTCTGGAATGC	0.433000																								0							SO:0001583	missense			ENST00000263461.6	1	1	hg19	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678055	0.68042	.	.	ENSG00000120008	ENST00000263461	T	0.28895	1.59	5.48	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.49126	1.545	0.53005	D	0.999962	D	0.63880	0.993	D	0.70016	0.967	T	0.20940	-1.0260	10	0.32370	T	0.25	-12.9534	10.5797	0.45248	0.0:0.7441:0.0:0.2559	.	143	Q9BZH6	WDR11_HUMAN	I	143	ENSP00000263461:L143I	ENSP00000263461:L143I	L	+	1	0	WDR11	122609685	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.650000	0.46665	1.326000	0.45319	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1	84	376	0	78	1	9.999995e-01	13	82	0	78	2		0	0	0	0	0	2	1	1	81	364	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR11	55717	broad.mit.edu	37	10	122626665	122626665	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122626665C>A	ENST00000263461.6	+	9	1524	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11			38					CAGACCTTTCCTTAGATAACA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000263461.6	1	1	hg19	CCDS7619.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1	62	262	0	58	1	9.999979e-01	11	73	0	58	2		0	0	0	0	0	2	1	1	62	259	0	55	2								-3.166627	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR11	55717	broad.mit.edu	37	10	122630757	122630757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122630757C>T	ENST00000263461.6	+	10	1616	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11			38					TTCCTGCTGACGGGACTGCTT	0.468000																								0							SO:0001583	missense			ENST00000263461.6	1	1	hg19	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242164	0.22796	.	.	ENSG00000120008	ENST00000263461	D	0.91631	-2.88	5.29	5.29	0.74685	.	0.149594	0.64402	D	0.000016	D	0.89157	0.6635	L	0.54323	1.7	0.42261	D	0.992011	P;P	0.47910	0.902;0.902	B;B	0.38458	0.274;0.274	D	0.90896	0.4765	10	0.87932	D	0	-15.858	14.2591	0.66073	0.0:0.9264:0.0:0.0736	.	457;457	Q9BZH6;B2RCJ6	WDR11_HUMAN;.	M	457	ENSP00000263461:T457M	ENSP00000263461:T457M	T	+	2	0	WDR11	122620747	0.999000	0.42202	0.069000	0.20011	0.070000	0.16714	4.530000	0.60595	2.468000	0.83385	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1	82	286	0	59	1	9.999915e-01	9	53	0	59	2		0	0	0	0	0	2	1	1	79	280	0	59	2								-20.000000	1	1	121412	3	39	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR11	55717	broad.mit.edu	37	10	122650367	122650367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122650367C>T	ENST00000263461.6	+	19	2729	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11			38					ATGAAGTCTGCGTGCTTTAGA	0.433000																								0							SO:0001583	missense			ENST00000263461.6	1	1	hg19	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188943	0.94923	.	.	ENSG00000120008	ENST00000263461	D	0.90444	-2.67	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.297552	0.37669	N	0.001989	D	0.86426	0.5930	L	0.36672	1.1	0.30098	N	0.807698	B;B;B;B	0.26975	0.063;0.063;0.165;0.046	B;B;B;B	0.18871	0.016;0.016;0.023;0.006	T	0.79193	-0.1904	10	0.28530	T	0.3	-3.5114	19.4182	0.94710	0.0:1.0:0.0:0.0	.	828;828;119;357	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	V	828	ENSP00000263461:A828V	ENSP00000263461:A828V	A	+	2	0	WDR11	122640357	0.949000	0.32298	0.010000	0.14722	0.888000	0.51559	7.348000	0.79366	2.575000	0.86900	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	1	0	1	129	507	0	135	1	9.999998e-01	12	75	0	135	2		0	0	0	0	0	2	1	1	127	498	0	135	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADARB2	105	broad.mit.edu	37	10	1230812	1230812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1230812G>A	ENST00000381312.1	-	9	2357	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	ADARB2_ENST00000381310.3_Silent_p.L187L|ADARB2_ENST00000381305.1_Silent_p.L80L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)			41		all_epithelial(10;0.059)|Colorectal(49;0.0815)			CTGCCATACAGCCGCGCCCAC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000381312.1	1	1	hg19	CCDS7058.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	1	0	1	42	146	0	30	0	1.319682e-01	0	3	0	30	2		0	0	0	0	0	2	1	1	41	142	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGFR2	2263	broad.mit.edu	37	10	123256162	123256162	+	Missense_Mutation	SNP	C	C	T	rs138712692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123256162C>T	ENST00000358487.5	-	13	2019	c.1747G>A	c.(1747-1749)Ggg>Agg	p.G583R	FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G584R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2			181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TACTCCATCCCGGGTGGCCTC	0.537000		5	Mis		gastric. NSCLC, endometrial		Crouzon, Pfeiffer, and Apert syndromes		Saethre-Chotzen syndrome;Apert syndrome						Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0							SO:0001583	missense	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	ENST00000358487.5	1	1	hg19	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338989	0.81911	2.27E-4	0.0	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047777	0.85682	D	0.000000	D	0.92163	0.7515	N	0.21142	0.635	0.80722	D	1	P;P;D;D;D;P;D;D	0.89917	0.678;0.791;0.991;1.0;0.996;0.566;0.984;1.0	B;B;B;D;P;B;B;D	0.77004	0.205;0.13;0.325;0.963;0.609;0.081;0.379;0.989	D	0.93595	0.6925	10	0.87932	D	0	.	18.9702	0.92712	0.0:1.0:0.0:0.0	.	600;582;494;466;583;495;584;486	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	R	494;584;471;583;466;467;469;175;581;584;581;495;584;584;492	ENSP00000350166:G494R;ENSP00000358057:G471R;ENSP00000351276:G583R;ENSP00000348559:G466R;ENSP00000358056:G467R;ENSP00000358055:G469R;ENSP00000404219:G175R;ENSP00000263451:G581R;ENSP00000410294:G584R;ENSP00000309878:G581R;ENSP00000353262:G495R;ENSP00000358052:G584R;ENSP00000358054:G584R;ENSP00000337665:G492R	ENSP00000337665:G492R	G	-	1	0	FGFR2	123246152	1.000000	0.71417	0.926000	0.36857	0.880000	0.50808	7.722000	0.84778	2.464000	0.83262	0.549000	0.68633	GGG		TCGA-IB-7651-01A-11D-2154-08	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	0	0	0	37	934	0	230	1	8.504707e-01	7	81	0	230	2		0	0	0	0	0	2	1	1	37	915	0	228	2								-2.388035	0	1	121412	1	34	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.460000	0.320000	1.000000	0.450000	0.504745	0.460000	0	3.800000e-01	5.600000e-01
ATE1	11101	broad.mit.edu	37	10	123600741	123600741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123600741C>T	ENST00000224652.6	-	9	1098	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369043.3_Missense_Mutation_p.G338D|ATE1_ENST00000535655.1_Missense_Mutation_p.G39D	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1			14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)			GTGAAAGGAGCCATAGCCACA	0.408000																								0							SO:0001583	missense			ENST00000224652.6	1	1	hg19	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.393504|5.393504	0.96009|0.96009	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Arginine-tRNA-protein transferase, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86451|.	0.5936|.	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;0.999;1.0;0.999|.	D|.	0.88736|.	0.3240|.	9|.	0.87932|.	D|.	0|.	-17.8215|-17.8215	19.7174|19.7174	0.96129|0.96129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;242;338;338|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|X	338;39;338;242;331;223|334	.|.	ENSP00000224652:G338D|.	G|W	-|-	2|3	0|0	ATE1|ATE1	123590731|123590731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.786000|7.786000	0.85741|0.85741	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	19	92	0	32	1	9.999518e-01	5	82	0	32	2		0	0	0	0	0	2	1	9.999929e-01	18	89	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999822	0.990000	1	9.900000e-01	1
ATE1	11101	broad.mit.edu	37	10	123661906	123661906	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123661906C>A	ENST00000224652.6	-	6	898	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ATE1_ENST00000369040.3_Splice_Site_p.E175D|ATE1_ENST00000540606.1_Splice_Site_p.E264D|ATE1_ENST00000543447.1_Splice_Site_p.E156D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369043.3_Splice_Site_p.E271D|ATE1_ENST00000535655.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1			14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)			TCCAAAGTACCTCTAACTTGT	0.323000																								0							SO:0001630	splice_region_variant			ENST00000224652.6	1	0	hg19	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.140442|5.140442	0.94560|0.94560	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.89917|.	0.89;0.944;0.98;1.0|.	P;P;P;D|.	0.76071|.	0.607;0.766;0.806;0.987|.	T|T	0.78099|0.78099	-0.2336|-0.2336	8|5	.|.	.|.	.|.	-21.7068|-21.7068	18.9376|18.9376	0.92592|0.92592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;175;271;271|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	D|C	271;271;175;264;156|268	.|.	.|.	E|G	-|-	3|1	2|0	ATE1|ATE1	123651896|123651896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.205000|7.205000	0.77881|0.77881	2.706000|2.706000	0.92434|0.92434	0.557000|0.557000	0.71058|0.71058	GAG|GGT		TCGA-IB-7651-01A-11D-2154-08	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	60	286	0	73	0	9.940871e-01	0	40	0	73	2		0	0	0	0	0	2	1	1	59	279	0	73	2								-3.070771	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NSMCE4A	54780	broad.mit.edu	37	10	123724800	123724800	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123724800C>T	ENST00000369023.3	-	5	805		c.e5+1		NSMCE4A_ENST00000489266.1_Splice_Site|NSMCE4A_ENST00000369017.5_Splice_Site|NSMCE4A_ENST00000538652.1_Splice_Site	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)			6		all_neural(114;0.138)|Glioma(114;0.222)			TTAAAACAAACCTGGGCAGGC	0.403000																								0							SO:0001630	splice_region_variant			ENST00000369023.3	1	1	hg19	CCDS7624.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334152	0.60853	.	.	ENSG00000107672	ENST00000369023;ENST00000538652;ENST00000369017	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7303	0.77794	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMCE4A	123714790	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.561000	0.67339	2.516000	0.84829	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	1	0	0	58	252	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	57	250	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACC2	10579	broad.mit.edu	37	10	123842275	123842275	+	Missense_Mutation	SNP	C	C	T	rs143057039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842275C>T	ENST00000369005.1	+	4	600	c.260C>T	c.(259-261)gCc>gTc	p.A87V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			CCACAGGGAGCCAGGGGGCCA	0.642000																								0							SO:0001583	missense			ENST00000369005.1	1	1	hg19	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798907	0.90538	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.07021	3.38;3.23;3.26;3.38;3.23	5.25	0.929	0.19449	.	0.000000	0.32884	N	0.005531	T	0.05044	0.0135	L	0.34521	1.04	0.09310	N	1	B;B;B	0.21821	0.061;0.061;0.061	B;B;B	0.18263	0.021;0.021;0.021	T	0.34750	-0.9816	10	0.27082	T	0.32	-5.5343	3.659	0.08232	0.1595:0.3586:0.3879:0.094	.	87;87;87	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	87;87;87;87;87;77	ENSP00000358001:A87V;ENSP00000424467:A87V;ENSP00000427618:A87V;ENSP00000334280:A87V;ENSP00000395048:A87V	ENSP00000334280:A87V	A	+	2	0	TACC2	123832265	0.001000	0.12720	0.036000	0.18154	0.854000	0.48673	0.219000	0.17641	0.585000	0.29608	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	1	94	369	0	76	0	1.083507e-01	1	2	0	76	2		0	0	0	0	0	2	1	1	93	360	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACC2	10579	broad.mit.edu	37	10	123842452	123842452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842452C>A	ENST00000369005.1	+	4	777	c.437C>A	c.(436-438)gCc>gAc	p.A146D	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A146D|TACC2_ENST00000334433.3_Missense_Mutation_p.A146D|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			GCCCCAAATGCCCCAGGAGAC	0.607000																								0							SO:0001583	missense			ENST00000369005.1	0	1	hg19	CCDS7626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.505840|2.505840	0.44558|0.44558	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076|ENST00000491540	T;T;T;T;T|.	0.03272|.	4.01;3.99;3.99;4.01;3.99|.	5.23|5.23	-1.12|-1.12	0.09808|0.09808	.|.	1.267400|.	0.06112|.	N|.	0.667338|.	T|.	0.21186|.	0.0510|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.002;0.002;0.002|.	B;B;B|.	0.10450|.	0.005;0.005;0.005|.	T|.	0.27400|.	-1.0075|.	10|.	0.62326|.	D|.	0.03|.	1.3028|1.3028	4.8562|4.8562	0.13561|0.13561	0.2379:0.2411:0.4451:0.0759|0.2379:0.2411:0.4451:0.0759	.|.	146;146;146|.	E9PBC6;E7EMZ9;O95359|.	.;.;TACC2_HUMAN|.	D|X	146;146;146;146;146;136|159	ENSP00000358001:A146D;ENSP00000424467:A146D;ENSP00000427618:A146D;ENSP00000334280:A146D;ENSP00000395048:A146D|.	ENSP00000334280:A146D|.	A|C	+|+	2|3	0|2	TACC2|TACC2	123832442|123832442	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	0.015000|0.015000	0.13355|0.13355	-0.557000|-0.557000	0.06126|0.06126	0.544000|0.544000	0.68410|0.68410	GCC|TGC		TCGA-IB-7651-01A-11D-2154-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0	0	0	9	390	0	89	0	2.138799e-02	1	8	0	89	2		0	0	0	0	0	2	1	9.940041e-01	9	385	0	88	2								-8.499427	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.280000	0.130000	1.000000	0.270000	0.349680	0.280000	0	2.000000e-01	4.200000e-01
TACC2	10579	broad.mit.edu	37	10	123842597	123842597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842597C>T	ENST00000369005.1	+	4	922	c.582C>T	c.(580-582)atC>atT	p.I194I	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.I194I|TACC2_ENST00000515273.1_Silent_p.I194I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			CCAGTGGCATCGACCAGTCAC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000369005.1	1	1	hg19	CCDS7626.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	0	17	172	0	46	0	4.853800e-02	0	4	0	46	2		0	0	0	0	0	2	1	9.999670e-01	16	169	0	46	2								-19.999820	1	1	121410	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.660000	1.000000	1.000000	0.948802	0.990000	1	8.500000e-01	1
TACC2	10579	broad.mit.edu	37	10	123842859	123842859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842859G>A	ENST00000369005.1	+	4	1184	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A282T|TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			ACAAGATCCAGCCCCAAGAGC	0.602000																								0							SO:0001583	missense			ENST00000369005.1	1	1	hg19	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505395	0.64410	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05319	3.57;3.49;3.46;3.57;3.49	5.57	2.68	0.31781	.	1.115670	0.07049	N	0.831536	T	0.04679	0.0127	N	0.17082	0.46	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.197	B;B;B	0.21708	0.036;0.036;0.036	T	0.43180	-0.9407	10	0.72032	D	0.01	-1.2979	5.5878	0.17283	0.1646:0.0:0.677:0.1584	.	282;282;282	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	282;282;282;282;282;272	ENSP00000358001:A282T;ENSP00000424467:A282T;ENSP00000427618:A282T;ENSP00000334280:A282T;ENSP00000395048:A282T	ENSP00000334280:A282T	A	+	1	0	TACC2	123832849	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.204000	0.17335	0.292000	0.22492	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	1	109	605	0	164	1	2.324542e-01	5	1	0	164	2		0	0	0	0	0	2	1	1	109	598	0	162	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACC2	10579	broad.mit.edu	37	10	123843830	123843830	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123843830G>A	ENST00000369005.1	+	4	2155	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.K605K|TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.K605K|TACC2_ENST00000515273.1_Silent_p.K605K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			TCAGCAGCAAGCGTGATCCAG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000369005.1	1	1	hg19	CCDS7626.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	1	48	232	0	54	1	5.365678e-01	6	4	0	54	2		0	0	0	0	0	2	1	1	47	232	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACC2	10579	broad.mit.edu	37	10	123845303	123845303	+	Silent	SNP	G	G	A	rs41288006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123845303G>A	ENST00000369005.1	+	4	3628	c.3288G>A	c.(3286-3288)ccG>ccA	p.P1096P	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.P1096P|TACC2_ENST00000334433.3_Silent_p.P1096P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.P1096P|TACC2_ENST00000515273.1_Silent_p.P1096P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			TGCCGGCCCCGCAGCAGAAAA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000369005.1	0	1	hg19	CCDS7626.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0	0	0	21	404	1	67	0	9.257788e-02	0	10	1	67	2		0	0	0	0	0	2	1	6.044929e-01	22	397	1	66	20								-3.323456	1	1	121408	81	50	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.600000	0.380000	1.000000	0.580000	0.636460	0.600000	0	4.800000e-01	7.800000e-01
TACC2	10579	broad.mit.edu	37	10	123989890	123989890	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123989890C>T	ENST00000369005.1	+	16	8402	c.8062C>T	c.(8062-8064)Cgg>Tgg	p.R2688W	TACC2_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688W|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.R766W|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000360561.3_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			TGCCATCATGCGGATAGAAGC	0.567000																								0							SO:0001583	missense			ENST00000369005.1	0	1	hg19	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342475	0.81911	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000334433;ENST00000358010;ENST00000368999;ENST00000260733	T;T;T;T;T;T	0.07327	3.65;3.32;3.65;3.32;3.2;3.2	5.92	4.95	0.65309	.	0.000000	0.32204	N	0.006425	T	0.15825	0.0381	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.02610	-1.1134	10	0.87932	D	0	-20.069	10.8248	0.46625	0.4815:0.5185:0.0:0.0	.	766;834;2688	O95359-1;O95359-5;O95359	.;.;TACC2_HUMAN	W	2688;834;2688;834;778;766	ENSP00000358001:R2688W;ENSP00000425062:R834W;ENSP00000334280:R2688W;ENSP00000350701:R834W;ENSP00000357995:R778W;ENSP00000260733:R766W	ENSP00000260733:R766W	R	+	1	2	TACC2	123979880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.894000	0.63206	1.432000	0.47375	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0	0	0	11	526	0	142	0	7.501788e-03	0	6	0	142	2		0	0	0	0	0	2	1	9.982368e-01	11	519	0	139	2								-2.548801	1	1	121412	5	40	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.250000	0.130000	1.000000	0.240000	0.321581	0.250000	0	1.800000e-01	3.700000e-01
BTBD16	118663	broad.mit.edu	37	10	124034607	124034607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124034607C>T	ENST00000260723.4	+	2	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_ENST00000368994.2_Missense_Mutation_p.S4L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16			15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)			ATGATAATGTCGAACACGGTG	0.393000																								0							SO:0001583	missense			ENST00000260723.4	1	1	hg19	CCDS31301.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.704	0.910321	0.17833	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.19105	2.29;2.17	3.74	2.62	0.31277	.	1.302300	0.05746	N	0.602239	T	0.08268	0.0206	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	10	0.22109	T	0.4	0.0467	5.3294	0.15924	0.0:0.1349:0.0:0.8651	.	4;4	Q32M84-2;Q32M84	.;BTBDG_HUMAN	L	4	ENSP00000260723:S4L;ENSP00000357990:S4L	ENSP00000260723:S4L	S	+	2	0	BTBD16	124024597	0.007000	0.16637	0.068000	0.19968	0.001000	0.01503	0.223000	0.17719	0.797000	0.33971	-0.302000	0.09304	TCG		TCGA-IB-7651-01A-11D-2154-08	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	1	0	1	84	454	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	82	448	0	100	2								-20.000000	1	1	121410	11	43	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHA1	59338	broad.mit.edu	37	10	124152810	124152810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124152810C>A	ENST00000368990.3	+	2	225	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.L32M	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1			13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)			GTACTTCATACTGGATACCAG	0.363000																								0							SO:0001583	missense			ENST00000368990.3	1	1	hg19	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170764	0.78452	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	6.08	4.25	0.50352	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	0.983;1.0	D;D	0.91635	0.995;0.999	D	0.95196	0.8312	10	0.87932	D	0	-14.4662	12.7713	0.57423	0.0:0.8684:0.0:0.1316	.	32;32	B3KQ55;Q9HB21	.;PKHA1_HUMAN	M	32	ENSP00000357986:L32M;ENSP00000357985:L32M;ENSP00000357984:L32M;ENSP00000438608:L32M;ENSP00000376547:L32M;ENSP00000394416:L32M	ENSP00000357984:L32M	L	+	1	2	PLEKHA1	124142800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.991000	0.70602	0.917000	0.36895	-0.229000	0.12294	CTG		TCGA-IB-7651-01A-11D-2154-08	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	1	0	1	48	227	0	30	1	1	40	101	0	30	2		0	0	0	0	0	2	1	1	45	224	0	30	2								-3.295813	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTRA1	5654	broad.mit.edu	37	10	124268275	124268275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124268275G>A	ENST00000368984.3	+	6	1237	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1			17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)			TCCCATGACCGACAGGCCAAA	0.527000																								0							SO:0001583	missense			ENST00000368984.3	0	1	hg19	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241792	0.79912	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.15139	2.45;2.45	5.16	5.16	0.70880	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.69823	2.125	0.80722	D	1	P	0.49862	0.929	B	0.26969	0.075	T	0.26258	-1.0108	10	0.72032	D	0.01	-10.4162	18.6471	0.91415	0.0:0.0:1.0:0.0	.	370	Q92743	HTRA1_HUMAN	Q	370;337;111	ENSP00000357980:R370Q;ENSP00000412676:R111Q	ENSP00000357980:R370Q	R	+	2	0	HTRA1	124258265	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.620000	0.98373	2.410000	0.81850	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	0	0	0	11	464	0	94	1	9.999531e-01	2	820	0	94	2		0	0	0	0	0	2	1	9.982504e-01	10	459	0	94	2								-3.854209	1	1	121412	2	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.290000	0.140000	1.000000	0.270000	0.352556	0.290000	0	2.100000e-01	4.200000e-01
DMBT1	1755	broad.mit.edu	37	10	124333230	124333230	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124333230G>T	ENST00000338354.3	+	6	341		c.e6-1		DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1			72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)			CCACCCTGCAGGTTCTCTGAT	0.567000													Ovarian(182;93 2026 18125 22222 38972)											0							SO:0001630	splice_region_variant			ENST00000338354.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.40	1.338472	0.24253	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	2.92	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5416	0.39255	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMBT1	124323220	0.992000	0.36948	0.685000	0.30070	0.024000	0.10985	3.215000	0.51169	1.949000	0.56562	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	1	0	1	146	726	0	185	0	2.831883e-02	0	2	0	185	2		0	0	0	0	0	2	1	1	146	719	0	183	2								-3.225261	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMBT1	1755	broad.mit.edu	37	10	124336170	124336170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124336170G>A	ENST00000338354.3	+	7	645	c.539G>A	c.(538-540)aGc>aAc	p.S180N	DMBT1_ENST00000368909.3_Missense_Mutation_p.S180N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1			72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)			TACCTGTGGAGCTGCCCCCAC	0.577000													Ovarian(182;93 2026 18125 22222 38972)											0							SO:0001583	missense			ENST00000338354.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	8.383	0.838009	0.16891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.41	-2.83	0.05769	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.285370	0.05954	N	0.639375	T	0.38480	0.1042	N	0.11284	0.12	0.09310	N	0.999996	B;B;B;B;D;B	0.58970	0.069;0.001;0.067;0.002;0.984;0.169	B;B;B;B;D;B	0.63793	0.062;0.007;0.076;0.004;0.918;0.351	T	0.45352	-0.9267	10	0.16420	T	0.52	.	11.3067	0.49340	0.7997:0.0:0.2003:0.0	.	180;180;180;180;180;180	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	N	180	ENSP00000342210:S180N;ENSP00000343175:S180N;ENSP00000327747:S180N;ENSP00000357905:S180N;ENSP00000357951:S180N;ENSP00000357952:S180N;ENSP00000352593:S180N	ENSP00000331522:S180N	S	+	2	0	DMBT1	124326160	0.000000	0.05858	0.951000	0.38953	0.233000	0.25261	-0.058000	0.11750	-0.405000	0.07599	-0.794000	0.03295	AGC		TCGA-IB-7651-01A-11D-2154-08	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	0	0	1	48	531	0	147	1	9.999731e-01	26	144	0	147	2		0	0	0	0	0	2	1	1	47	519	0	145	2								-12.774560	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.740000	1.000000	1.000000	0.946753	0.990000	1	8.500000e-01	1
DMBT1	1755	broad.mit.edu	37	10	124339216	124339216	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124339216G>T	ENST00000338354.3	+	10	908	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	DMBT1_ENST00000368909.3_Missense_Mutation_p.A268S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1			72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)			CACCAATGATGCCAATGTGGT	0.607000													Ovarian(182;93 2026 18125 22222 38972)											0							SO:0001583	missense			ENST00000338354.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.3	4.269065	0.80469	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.07	4.07	0.47477	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.79776	0.4504	H	0.97415	4	0.80722	D	1	D;D;D;P;D	0.76494	0.998;0.986;0.999;0.619;0.999	D;D;D;P;D	0.91635	0.987;0.991;0.985;0.727;0.999	D	0.88134	0.2840	9	0.72032	D	0.01	.	16.7077	0.85376	0.0:0.0:1.0:0.0	.	268;268;268;268;268	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	S	268	ENSP00000342210:A268S;ENSP00000343175:A268S;ENSP00000327747:A268S;ENSP00000357905:A268S;ENSP00000357951:A268S;ENSP00000357952:A268S	ENSP00000331522:A268S	A	+	1	0	DMBT1	124329206	1.000000	0.71417	0.489000	0.27452	0.676000	0.39594	6.350000	0.73017	2.017000	0.59298	0.537000	0.68136	GCC		TCGA-IB-7651-01A-11D-2154-08	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	0	0	0	53	2056	0	471	1	7.839273e-01	3	111	0	471	2		0	0	0	0	0	2	1	1	41	1747	0	474	2								-3.013916	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.300000	0.220000	1.000000	0.300000	0.359233	0.300000	0	2.500000e-01	3.600000e-01
DMBT1	1755	broad.mit.edu	37	10	124395524	124395524	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124395524A>C	ENST00000338354.3	+	50	6285	c.6179A>C	c.(6178-6180)aAc>aCc	p.N2060T	DMBT1_ENST00000368909.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1			72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)			GGTGGCTGCAACTATGATTAT	0.527000													Ovarian(182;93 2026 18125 22222 38972)											0							SO:0001583	missense			ENST00000338354.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	8.904	0.957041	0.18507	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.41	-2.7	0.06004	CUB (5);	2.122320	0.02507	N	0.091111	T	0.19525	0.0469	N	0.24115	0.695	0.09310	N	1	P;B;B;P;B;B;B	0.46142	0.676;0.213;0.386;0.873;0.05;0.05;0.062	B;B;B;B;B;B;B	0.42282	0.254;0.06;0.124;0.382;0.049;0.049;0.081	T	0.33317	-0.9873	10	0.29301	T	0.29	.	10.5743	0.45219	0.4977:0.0:0.5023:0.0	.	780;2040;1309;2189;1432;2050;2060	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	T	2060;2189;2060;2060;2060;2059;1432;2050;1432;1432;2060;2050;1432;206;780	ENSP00000342210:N2060T;ENSP00000343175:N2050T;ENSP00000327747:N1432T;ENSP00000357905:N2060T;ENSP00000357951:N2050T;ENSP00000357952:N1432T;ENSP00000352593:N780T	ENSP00000331522:N1432T	N	+	2	0	DMBT1	124385514	0.000000	0.05858	0.013000	0.15412	0.431000	0.31685	-0.947000	0.03901	-0.414000	0.07495	-0.376000	0.06991	AAC		TCGA-IB-7651-01A-11D-2154-08	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	1	0	1	58	221	0	55	1	1	92	408	0	55	2		0	0	0	0	0	2	1	1	56	214	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf120	399814	broad.mit.edu	37	10	124457595	124457595	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457595T>A	ENST00000329446.4	-	3	693	c.662A>T	c.(661-663)gAt>gTt	p.D221V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120			21		all_neural(114;0.169)|Glioma(114;0.222)			GTTGGCATCATCACAATTATG	0.403000																								0							SO:0001583	missense			ENST00000329446.4	1	1	hg19	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313421	0.40996	.	.	ENSG00000183559	ENST00000329446	T	0.35973	1.28	4.71	-2.4	0.06583	.	0.760985	0.11541	N	0.553777	T	0.24851	0.0603	L	0.40543	1.245	0.09310	N	0.999991	P	0.44044	0.825	B	0.43103	0.408	T	0.12142	-1.0559	10	0.36615	T	0.2	-2.5136	2.9532	0.05868	0.3016:0.2686:0.0:0.4298	.	221	Q5SQS8	CJ120_HUMAN	V	221	ENSP00000331012:D221V	ENSP00000331012:D221V	D	-	2	0	C10orf120	124447585	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.290000	0.02777	-0.525000	0.06391	-0.323000	0.08544	GAT		TCGA-IB-7651-01A-11D-2154-08	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	1	0	1	45	183	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	44	180	0	33	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf120	399814	broad.mit.edu	37	10	124457633	124457633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457633G>A	ENST00000329446.4	-	3	655	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120			21		all_neural(114;0.169)|Glioma(114;0.222)			CCTTTCGTCTGGCCTTATTTT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000329446.4	1	1	hg19	CCDS31302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	1	0	1	50	216	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	50	213	0	35	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUZD1	50624	broad.mit.edu	37	10	124591924	124591924	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124591924G>T	ENST00000368904.1	-	11	2643	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H|CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H					CUB and zona pellucida-like domains 1			39		all_neural(114;0.169)|Glioma(114;0.222)			ACTGTTGAAAGGCTGGTTTGG	0.388000																								0							SO:0001583	missense			ENST00000368904.1	1	1	hg19	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892986	0.33442	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	T;T;T	0.40225	1.04;1.04;1.04	5.2	5.2	0.72013	.	0.184780	0.36268	N	0.002682	T	0.55909	0.1950	M	0.64997	1.995	0.09310	N	0.99999	D	0.71674	0.998	P	0.61328	0.887	T	0.50980	-0.8763	10	0.45353	T	0.12	-19.8253	11.8476	0.52393	0.0:0.0:0.7809:0.2191	.	565	Q86UP6	CUZD1_HUMAN	H	565;284;284;199;284;565;565	ENSP00000357900:P565H;ENSP00000441590:P565H;ENSP00000376540:P565H	ENSP00000340905:P199H	P	-	2	0	CUZD1	124581914	0.521000	0.26258	0.078000	0.20375	0.148000	0.21650	2.828000	0.48120	2.564000	0.86499	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	1	0	1	122	468	0	122	0	1	0	99	0	122	2		0	0	0	0	0	2	1	1	118	455	0	120	2								-3.805298	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUZD1	50624	broad.mit.edu	37	10	124594412	124594412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124594412C>T	ENST00000368904.1	-	9	2141	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T|CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T					CUB and zona pellucida-like domains 1			39		all_neural(114;0.169)|Glioma(114;0.222)			TCAAAAAGAGCCATGCTGGTG	0.343000																								0							SO:0001583	missense			ENST00000368904.1	1	1	hg19	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126578	0.56721	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.82167	-1.58;-1.58;-1.58	4.81	3.86	0.44501	Zona pellucida sperm-binding protein (3);	0.182978	0.45606	D	0.000341	D	0.83312	0.5227	L	0.46741	1.465	0.31908	N	0.615022	D	0.61080	0.989	P	0.57620	0.824	T	0.80997	-0.1132	10	0.18710	T	0.47	-12.2227	12.0467	0.53483	0.3723:0.6277:0.0:0.0	.	398	Q86UP6	CUZD1_HUMAN	T	398;117;117;32;117;398;398	ENSP00000357900:A398T;ENSP00000441590:A398T;ENSP00000376540:A398T	ENSP00000340905:A32T	A	-	1	0	CUZD1	124584402	0.999000	0.42202	1.000000	0.80357	0.431000	0.31685	0.854000	0.27791	2.217000	0.71921	0.460000	0.39030	GCT		TCGA-IB-7651-01A-11D-2154-08	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	1	0	1	45	232	0	40	0	9.999874e-01	0	90	0	40	2		0	0	0	0	0	2	1	1	44	228	0	40	2								-19.999740	1	1	121408	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FAM24A	118670	broad.mit.edu	37	10	124671154	124671154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124671154G>A	ENST00000368894.1	+	2	125	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	p.A2T(1)		9		all_neural(114;0.169)|Glioma(114;0.222)			CTTAGGCATGGCAAAGATGTT	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000368894.1	1	1	hg19	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	G	7.744	0.701867	0.15172	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.15	-2.45	0.06481	.	.	.	.	.	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.17098	0.017	T	0.24119	-1.0169	8	0.23302	T	0.38	.	6.5539	0.22450	0.0:0.1316:0.6108:0.2575	.	2	A6NFZ4	FA24A_HUMAN	T	2	.	ENSP00000357889:A2T	A	+	1	0	FAM24A	124661144	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.384000	0.01063	-0.482000	0.06782	-0.521000	0.04368	GCA		TCGA-IB-7651-01A-11D-2154-08	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	0	0	0	30	924	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	1	30	911	0	179	2								-3.117641	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.380000	0.250000	1.000000	0.370000	0.432788	0.380000	0	3.100000e-01	4.800000e-01
C10orf88	80007	broad.mit.edu	37	10	124691977	124691977	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124691977T>C	ENST00000481909.1	-	6	1528	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88			18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)			TTCTCCAGAGTCATAATGTCT	0.378000																								0							SO:0001583	missense			ENST00000481909.1	1	1	hg19	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136030	0.37728	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.83	3.67	0.42095	.	0.314175	0.26103	U	0.026322	T	0.53206	0.1782	M	0.69823	2.125	0.34834	D	0.740018	B	0.27997	0.197	B	0.28465	0.09	T	0.60954	-0.7160	9	0.66056	D	0.02	.	6.5949	0.22667	0.1534:0.0:0.1601:0.6865	.	435	Q9H8K7	CJ088_HUMAN	G	435	.	ENSP00000419126:D435G	D	-	2	0	C10orf88	124681967	0.996000	0.38824	0.979000	0.43373	0.974000	0.67602	0.855000	0.27805	0.655000	0.30866	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	0	0	1	52	223	1	48	1	8.389026e-01	8	22	1	48	4		0	0	0	0	0	2	1	9.999968e-01	52	221	1	48	18								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf88	80007	broad.mit.edu	37	10	124692104	124692104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124692104G>A	ENST00000481909.1	-	6	1401	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88			18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)			TAATCCATAAGTTTCTTTTCC	0.343000																								0							SO:0001583	missense			ENST00000481909.1	1	1	hg19	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121303	0.56613	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.99	3.11	0.35812	.	0.000000	0.52532	U	0.000075	T	0.72045	0.3412	M	0.79475	2.455	0.40647	D	0.982001	D	0.89917	1.0	D	0.91635	0.999	T	0.74009	-0.3802	9	0.87932	D	0	.	7.8941	0.29695	0.2521:0.0:0.7479:0.0	.	393	Q9H8K7	CJ088_HUMAN	F	393	.	ENSP00000419126:L393F	L	-	1	0	C10orf88	124682094	1.000000	0.71417	0.622000	0.29159	0.897000	0.52465	2.723000	0.47277	1.081000	0.41110	-0.150000	0.13652	CTT		TCGA-IB-7651-01A-11D-2154-08	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	1	0	1	41	185	0	29	1	9.992036e-01	9	43	0	29	2		0	0	0	0	0	2	1	1	39	182	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSTK	118672	broad.mit.edu	37	10	124742796	124742796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124742796G>A	ENST00000368887.3	+	3	957	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_Missense_Mutation_p.G173S	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase			13		all_neural(114;0.169)|Glioma(114;0.222)			AGATTCGTTGGGCTTTTGCCA	0.383000																								0							SO:0001583	missense			ENST00000368887.3	1	1	hg19	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.552661|4.552661	0.86127|0.86127	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000368887;ENST00000405485|ENST00000406217	T;T|.	0.28454|.	1.61;1.61|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77343|.	0.4116|.	M|M	0.75085|0.75085	2.285|2.285	0.50632|0.50632	D|D	0.999881|0.999881	D|.	0.65815|.	0.995|.	D|.	0.71656|.	0.974|.	T|.	0.75736|.	-0.3213|.	10|.	0.08179|.	T|.	0.78|.	-5.2141|-5.2141	18.9646|18.9646	0.92691|0.92691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173|.	Q8IV42|.	PSTK_HUMAN|.	S|X	173|173	ENSP00000357882:G173S;ENSP00000384764:G173S|.	ENSP00000357882:G173S|.	G|W	+|+	1|3	0|0	PSTK|PSTK	124732786|124732786	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.959000|0.959000	0.62525|0.62525	4.039000|4.039000	0.57325|0.57325	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	1	0	1	26	127	0	35	1	8.317269e-01	10	8	0	35	2		0	0	0	0	0	2	1	9.999999e-01	25	122	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
ACADSB	36	broad.mit.edu	37	10	124800860	124800860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800860C>T	ENST00000358776.4	+	5	660	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain			17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCACGCAGGGCTCTTTCTGGT	0.398000																								0							SO:0001583	missense			ENST00000358776.4	1	1	hg19	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	7.442	0.640989	0.14386	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.95482	-3.72;-3.72	6.01	2.67	0.31697	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.191034	0.45126	D	0.000390	D	0.85923	0.5810	N	0.04636	-0.2	0.44899	D	0.997917	B	0.15930	0.015	B	0.18263	0.021	T	0.79766	-0.1665	10	0.27785	T	0.31	.	8.0122	0.30359	0.3112:0.3526:0.3362:0.0	.	216	P45954	ACDSB_HUMAN	F	114;216	ENSP00000357862:L114F;ENSP00000357873:L216F	ENSP00000357873:L216F	L	+	1	0	ACADSB	124790850	0.884000	0.30299	0.868000	0.34077	0.187000	0.23431	1.331000	0.33793	1.514000	0.48869	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	1	0	1	110	569	0	140	1	9.999835e-01	33	49	0	140	2		0	0	0	0	0	2	1	1	107	560	0	140	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACADSB	36	broad.mit.edu	37	10	124800885	124800885	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800885A>G	ENST00000358776.4	+	5	685	c.671A>G	c.(670-672)gAc>gGc	p.D224G	ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain			17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCAAATGTAGACCCTACCATT	0.398000																								0							SO:0001583	missense			ENST00000358776.4	1	1	hg19	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	35	5.564262	0.96527	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99051	-5.37;-5.37	6.01	6.01	0.97437	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.203474	0.51477	D	0.000095	D	0.98349	0.9452	L	0.49256	1.55	0.47547	D	0.999456	P	0.35363	0.497	P	0.44673	0.457	D	0.99346	1.0913	10	0.66056	D	0.02	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	224	P45954	ACDSB_HUMAN	G	122;224	ENSP00000357862:D122G;ENSP00000357873:D224G	ENSP00000357873:D224G	D	+	2	0	ACADSB	124790875	1.000000	0.71417	0.451000	0.26982	0.662000	0.39071	8.954000	0.93051	2.307000	0.77673	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	0	0	0	40	588	1	131	1	7.533005e-01	10	70	1	131	4		0	0	0	0	0	2	1	9.993701e-01	40	577	1	131	17								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.760000	0.550000	1.000000	0.750000	0.783917	0.760000	0	6.500000e-01	9.300000e-01
HMX2	3167	broad.mit.edu	37	10	124909094	124909094	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124909094A>G	ENST00000339992.3	+	2	534	c.277A>G	c.(277-279)Aag>Gag	p.K93E		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2			7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)			AGGTACCCCCAAGGGCAGCGG	0.642000																								0							SO:0001583	missense			ENST00000339992.3	1	1	hg19	CCDS31305.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738077	0.49045	.	.	ENSG00000188816	ENST00000339992	D	0.89939	-2.59	4.79	4.79	0.61399	.	0.175281	0.48767	D	0.000163	T	0.77491	0.4138	L	0.27053	0.805	0.43857	D	0.996451	B	0.12013	0.005	B	0.09377	0.004	T	0.67995	-0.5526	10	0.05721	T	0.95	.	8.4983	0.33141	0.913:0.0:0.087:0.0	.	93	A2RU54	HMX2_HUMAN	E	93	ENSP00000341108:K93E	ENSP00000341108:K93E	K	+	1	0	HMX2	124899084	0.997000	0.39634	1.000000	0.80357	0.947000	0.59692	3.684000	0.54671	2.004000	0.58718	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	1	0	1	82	353	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	82	346	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BUB3	9184	broad.mit.edu	37	10	124919965	124919965	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124919965A>C	ENST00000368865.4	+	5	669	c.460A>C	c.(460-462)Aca>Cca	p.T154P	BUB3_ENST00000538238.1_Missense_Mutation_p.T74P|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.T154P	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein			9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)			GATTGTGGGAACAGCAGGCCG	0.488000													GBM(161;1111 1985 17553 20049 26037)											0							SO:0001583	missense			ENST00000368865.4	1	1	hg19	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.898435	0.91962	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.72394	-0.65;1.44;-0.65;-0.65	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101842	0.64402	D	0.000003	T	0.81866	0.4913	H	0.96142	3.775	0.80722	D	1	P;B	0.43024	0.798;0.412	B;B	0.42343	0.384;0.148	D	0.87596	0.2494	10	0.72032	D	0.01	0.0523	15.4116	0.74929	1.0:0.0:0.0:0.0	.	154;154	O43684;O43684-2	BUB3_HUMAN;.	P	154;74;154;154	ENSP00000357858:T154P;ENSP00000444354:T74P;ENSP00000357851:T154P;ENSP00000383941:T154P	ENSP00000357851:T154P	T	+	1	0	BUB3	124909955	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	9.307000	0.96226	2.085000	0.62840	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1	1	0	1	130	605	0	127	1	1	137	255	0	127	2		0	0	0	0	0	2	1	1	129	597	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR26	2849	broad.mit.edu	37	10	125426094	125426094	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125426094G>A	ENST00000284674.1	+	1	224	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26			20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)			TGTGCACCGTGGTCAACATGC	0.721000																								0							SO:0001819	synonymous_variant			ENST00000284674.1	0	1	hg19	CCDS7636.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1	1	0	0	11	59	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.986880e-01	11	58	0	11	2								-19.737100	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.970000	1.000000	1.000000	0.996670	0.990000	1	9.900000e-01	1
GPR26	2849	broad.mit.edu	37	10	125447554	125447554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125447554C>T	ENST00000284674.1	+	3	945	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	p.R298*(1)		20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)			CTCCTTACTGCGACACCAGTA	0.597000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000284674.1	0	1	hg19	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743927	0.96873	.	.	ENSG00000154478	ENST00000284674	.	.	.	5.59	-0.214	0.13161	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-4.1452	7.6698	0.28453	0.3459:0.5221:0.0:0.132	.	.	.	.	X	298	.	ENSP00000284674:R298X	R	+	1	2	GPR26	125437544	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	2.309000	0.43699	0.259000	0.21709	-0.237000	0.12165	CGA		TCGA-IB-7651-01A-11D-2154-08	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1	1	0	1	65	383	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	63	374	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST15	51363	broad.mit.edu	37	10	125804220	125804220	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804220C>T	ENST00000346248.5	-	3	1404	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_ENST00000421115.1_Silent_p.P254P|CHST15_ENST00000435907.1_Silent_p.P254P|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15			26					TGTAGAAGTGCGGCAGGCAGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000346248.5	1	1	hg19	CCDS7638.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	1	0	1	48	175	0	41	1	9.997565e-01	11	38	0	41	2		0	0	0	0	0	2	1	1	46	174	0	40	2								-3.798776	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST15	51363	broad.mit.edu	37	10	125804230	125804230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804230C>T	ENST00000346248.5	-	3	1394	c.752G>A	c.(751-753)cGc>cAc	p.R251H	CHST15_ENST00000421115.1_Missense_Mutation_p.R251H|CHST15_ENST00000435907.1_Missense_Mutation_p.R251H|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15			26					CGGCAGGCAGCGCAGGCGGAA	0.652000																								0							SO:0001583	missense			ENST00000346248.5	1	1	hg19	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551568	0.96501	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.56103	0.48;0.48;0.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.74150	-0.3758	10	0.87932	D	0	-33.2708	17.9025	0.88909	0.0:1.0:0.0:0.0	.	251;251	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	251	ENSP00000333947:R251H;ENSP00000402394:R251H;ENSP00000412477:R251H	ENSP00000333947:R251H	R	-	2	0	CHST15	125794220	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.496000	0.81526	2.648000	0.89879	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	1	0	1	52	170	0	36	1	9.998855e-01	9	39	0	36	2		0	0	0	0	0	2	1	1	50	169	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OAT	4942	broad.mit.edu	37	10	126094013	126094013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126094013C>T	ENST00000368845.5	-	5	732	c.640G>A	c.(640-642)Gca>Aca	p.A214T	OAT_ENST00000539214.1_Missense_Mutation_p.A76T|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase			5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)		L-Ornithine(DB00129)	ACCTCCAGTGCGGGCAGATCA	0.403000																								0							SO:0001583	missense			ENST00000368845.5	1	1	hg19	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704650	0.68615	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.99060	-5.38;-5.38	4.4	4.4	0.53042	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.105835	0.64402	D	0.000005	D	0.98880	0.9621	M	0.86864	2.845	0.80722	D	1	P	0.51351	0.944	P	0.48524	0.58	D	0.99880	1.1112	10	0.66056	D	0.02	-16.4873	17.8803	0.88838	0.0:1.0:0.0:0.0	.	214	P04181	OAT_HUMAN	T	76;214	ENSP00000439042:A76T;ENSP00000357838:A214T	ENSP00000357838:A214T	A	-	1	0	OAT	126084003	0.999000	0.42202	0.990000	0.47175	0.639000	0.38242	3.565000	0.53798	2.406000	0.81754	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	1	0	1	31	324	0	75	1	1	67	393	0	75	2		0	0	0	0	0	2	1	1	29	322	0	75	2								-3.221883	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.720000	1.000000	1.000000	0.956525	0.990000	1	8.700000e-01	1
OAT	4942	broad.mit.edu	37	10	126100554	126100554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126100554C>A	ENST00000368845.5	-	2	279	c.187G>T	c.(187-189)Gag>Tag	p.E63*	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase			5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)		L-Ornithine(DB00129)	TTTCCTCTCTCCAGGGCTACA	0.348000																								0							SO:0001587	stop_gained			ENST00000368845.5	0	1	hg19	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	36	5.787899	0.96945	.	.	ENSG00000065154	ENST00000368845	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.0584	16.7883	0.85580	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000357838:E63X	E	-	1	0	OAT	126090544	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.478000	0.81082	2.115000	0.64714	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	1	0	1	116	511	0	126	1	1	4	382	0	126	2		0	0	0	0	0	2	1	1	113	500	0	125	2								-3.406269	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM53B	9679	broad.mit.edu	37	10	126395270	126395270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126395270G>T	ENST00000337318.3	-	2	224	c.13C>A	c.(13-15)Cta>Ata	p.L5I	RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|RP11-464O2.2_ENST00000432699.1_RNA|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B			9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)			CTTTCACTTAGGACCATCACC	0.592000																								0							SO:0001583	missense			ENST00000337318.3	1	1	hg19	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779685	0.31502	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.40756	1.02;1.02;1.02	4.61	3.71	0.42584	.	0.405020	0.23889	N	0.043562	T	0.41213	0.1149	N	0.24115	0.695	0.27832	N	0.941414	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.80764	0.986;0.994;0.986	T	0.24621	-1.0155	10	0.02654	T	1	-2.5053	10.2122	0.43147	0.0941:0.0:0.9059:0.0	.	5;5;5	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	I	5	ENSP00000338532:L5I;ENSP00000376509:L5I;ENSP00000280780:L5I	ENSP00000280780:L5I	L	-	1	2	FAM53B	126385260	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	2.337000	0.43947	1.319000	0.45190	0.655000	0.94253	CTA		TCGA-IB-7651-01A-11D-2154-08	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	0	0	0	15	527	0	139	1	3.889145e-01	2	44	0	139	2		0	0	0	0	0	2	1	9.998568e-01	15	518	0	138	2								-2.874463	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.340000	0.190000	1.000000	0.330000	0.398884	0.340000	0	2.600000e-01	4.700000e-01
CTBP2	1488	broad.mit.edu	37	10	126681860	126681860	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126681860A>C	ENST00000337195.5	-	9	1349	c.950T>G	c.(949-951)aTc>aGc	p.I317S	CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S|CTBP2_ENST00000309035.6_Missense_Mutation_p.I857S	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2			25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)			AGGAGTGCAGATGAGATTCGG	0.562000																								0							SO:0001583	missense			ENST00000337195.5	1	1	hg19	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261020	0.80246	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.72	4.72	0.59763	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90883	0.4755	10	0.87932	D	0	.	14.3858	0.66942	1.0:0.0:0.0:0.0	.	317;857;385	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	S	317;857;385;317;317;317	ENSP00000338615:I317S;ENSP00000311825:I857S;ENSP00000357816:I385S;ENSP00000434630:I317S;ENSP00000436285:I317S;ENSP00000410474:I317S	ENSP00000311825:I857S	I	-	2	0	CTBP2	126671850	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	8.729000	0.91490	1.991000	0.58162	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	1	0	1	17	128	0	38	1	9.999999e-01	78	174	0	38	2		0	0	0	0	0	2	1	9.999754e-01	17	128	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.860000	1.000000	1.000000	0.991633	0.990000	1	9.900000e-01	1
CTBP2	1488	broad.mit.edu	37	10	126691615	126691615	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126691615T>C	ENST00000337195.5	-	5	671	c.272A>G	c.(271-273)gAc>gGc	p.D91G	CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G|CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G|CTBP2_ENST00000309035.6_Missense_Mutation_p.D631G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2			25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)			CTTCTCCAGGTCCTCCCTGGT	0.617000																								0							SO:0001583	missense			ENST00000337195.5	1	1	hg19	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001605	0.74818	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.94	4.94	0.65067	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.996;0.997	T	0.80723	-0.1255	10	0.72032	D	0.01	.	14.9022	0.70687	0.0:0.0:0.0:1.0	.	91;631;159	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	G	91;631;159;91;91;91	ENSP00000338615:D91G;ENSP00000311825:D631G;ENSP00000357816:D159G;ENSP00000434630:D91G;ENSP00000436285:D91G;ENSP00000410474:D91G	ENSP00000311825:D631G	D	-	2	0	CTBP2	126681605	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.033000	0.88852	1.998000	0.58463	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	1	0	0	13	314	0	81	1	9.984334e-01	12	255	0	81	2		0	0	0	0	0	2	1	9.995121e-01	13	309	0	80	2								-14.207830	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.490000	0.270000	1.000000	0.460000	0.538315	0.490000	0	3.700000e-01	6.800000e-01
CAMK1D	57118	broad.mit.edu	37	10	12708741	12708741	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12708741G>T	ENST00000378847.3	+	3	568	c.231G>T	c.(229-231)aaG>aaT	p.K77N	CAMK1D_ENST00000487696.1_3'UTR|CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID			16					TCAGGATTAAGCATGAAAATA	0.338000																								0							SO:0001583	missense			ENST00000378847.3	1	1	hg19	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113066	0.37339	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.38401	1.14;1.14	5.51	3.64	0.41730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.11651	0.15	0.53688	D	0.99997	D;B	0.56035	0.974;0.002	P;B	0.58210	0.835;0.011	T	0.02144	-1.1206	10	0.39692	T	0.17	-21.3343	7.0761	0.25205	0.2351:0.0:0.7649:0.0	.	77;77	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	77	ENSP00000368124:K77N;ENSP00000368122:K77N	ENSP00000368122:K77N	K	+	3	2	CAMK1D	12748747	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.100000	0.41777	2.593000	0.87608	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	1	0	1	79	360	0	76	1	9.998004e-01	2	57	0	76	2		0	0	0	0	0	2	1	1	76	357	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf137	0	broad.mit.edu	37	10	127417664	127417664	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127417664G>A	ENST00000356792.4	+	7	1117	c.885G>A	c.(883-885)gaG>gaA	p.E295E	C10orf137_ENST00000337623.3_Intron	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN				61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			ATGACGGGGAGCACAGTCAGG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000356792.4	0	1	hg19	CCDS55733.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1	0	0	0	5	33	0	9	1	4.867087e-01	3	8	0	9	2		0	0	0	0	0	2	1	9.420492e-01	5	33	0	9	2								-11.874210	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.610000	1.000000	1.000000	0.965180	0.990000	1	9.800000e-01	1
C10orf137	0	broad.mit.edu	37	10	127421991	127421991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127421991A>G	ENST00000356792.4	+	10	1379	c.1147A>G	c.(1147-1149)Aca>Gca	p.T383A	C10orf137_ENST00000337623.3_Missense_Mutation_p.T349A	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN				61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			AATGATAAAGACAGAAGAAAT	0.279000																								0							SO:0001583	missense			ENST00000356792.4	0	1	hg19	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682974	0.88542	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.11712	2.75;2.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	M	0.82323	2.585	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.76071	0.981;0.987;0.971	T	0.19095	-1.0316	10	0.59425	D	0.04	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	383;349;383	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	A	383;383;349	ENSP00000349244:T383A;ENSP00000336727:T349A	ENSP00000336727:T349A	T	+	1	0	C10orf137	127411981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.896000	0.92521	2.326000	0.78906	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1	0	0	0	10	41	0	13	1	9.079328e-01	10	10	0	13	2		0	0	0	0	0	2	1	9.978505e-01	10	41	0	13	2								-9.686922	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998520	0.990000	1	9.900000e-01	1
C10orf137	0	broad.mit.edu	37	10	127442353	127442353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127442353C>T	ENST00000356792.4	+	24	3716	c.3484C>T	c.(3484-3486)Cgg>Tgg	p.R1162W	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.R1128W|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN				61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			ATTTGAGTCTCGGTTGTCATT	0.393000																								0							SO:0001583	missense			ENST00000356792.4	1	1	hg19	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748506	0.69533	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	.	0.054356	0.64402	D	0.000001	T	0.61590	0.2359	M	0.68952	2.095	0.54753	D	0.999982	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.70935	0.9;0.971;0.928	T	0.64445	-0.6406	10	0.87932	D	0	.	14.4869	0.67624	0.156:0.844:0.0:0.0	.	1162;509;1128	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	W	1162;1128	ENSP00000349244:R1162W;ENSP00000336727:R1128W	ENSP00000336727:R1128W	R	+	1	2	C10orf137	127432343	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	3.843000	0.55865	2.627000	0.88993	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1	1	0	1	66	304	0	57	1	9.729448e-01	6	23	0	57	2		0	0	0	0	0	2	1	1	64	300	0	56	2								-3.041682	1	1	121412	1	25	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP21	118856	broad.mit.edu	37	10	127456127	127456127	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127456127A>G	ENST00000368808.3	-	6	1383	c.1384T>C	c.(1384-1386)Tta>Cta	p.L462L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21			16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)		Marimastat(DB00786)	AAGTAAATTAACTTCTGTCTT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000368808.3	1	1	hg19	CCDS7647.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1	1	0	1	75	249	0	45	0	0	0	1	0	45	2		0	0	0	0	0	2	1	1	72	247	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP21	118856	broad.mit.edu	37	10	127459093	127459093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127459093C>T	ENST00000368808.3	-	5	1046	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21			16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)		Marimastat(DB00786)	TCACCATCACCTCTCCATATT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000368808.3	1	1	hg19	CCDS7647.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1	1	0	1	90	414	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	89	402	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP21	118856	broad.mit.edu	37	10	127461256	127461256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127461256C>T	ENST00000368808.3	-	3	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21			16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)		Marimastat(DB00786)	GTCACCTAGGCGCCAGGCGTG	0.637000																								0							SO:0001583	missense			ENST00000368808.3	1	1	hg19	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389139	0.25118	.	.	ENSG00000154485	ENST00000368808	T	0.17854	2.25	4.51	0.116	0.14647	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.522000	0.20933	N	0.083075	T	0.09379	0.0231	L	0.32530	0.975	0.37047	D	0.897399	B	0.15141	0.012	B	0.14023	0.01	T	0.20505	-1.0273	10	0.25106	T	0.35	-19.268	2.7793	0.05356	0.3403:0.3532:0.0:0.3065	.	254	Q8N119	MMP21_HUMAN	H	254	ENSP00000357798:R254H	ENSP00000357798:R254H	R	-	2	0	MMP21	127451246	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.563000	0.23547	0.150000	0.19136	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1	1	0	1	70	269	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	68	267	0	67	2								-3.759072	1	1	121412	7	40	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UROS	7390	broad.mit.edu	37	10	127503679	127503679	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127503679G>A	ENST00000368797.4	-	4	392	c.168C>T	c.(166-168)taC>taT	p.Y56Y	UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368778.3_Silent_p.Y56Y|UROS_ENST00000368774.1_Silent_p.Y56Y	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase			7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)			TGAGTCCCCCGTAATCTTCAG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000368797.4	1	1	hg19	CCDS7648.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	1	0	1	30	169	0	47	1	1	55	194	0	47	2		0	0	0	0	0	2	1	1	29	167	0	47	2								-3.036861	1	1	121412	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
BCCIP	56647	broad.mit.edu	37	10	127516166	127516166	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127516166G>T	ENST00000278100.6	+	3	292	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000299130.3_Missense_Mutation_p.D94Y	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein			8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)			AGAACTAACAGATCTCTTAAT	0.308000																								0							SO:0001583	missense			ENST00000278100.6	1	1	hg19	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116374	0.56505	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.57	-0.773	0.10995	.	0.449301	0.25944	N	0.027300	T	0.69904	0.3163	M	0.92412	3.305	0.18873	N	0.999987	D;D;D;D;D	0.69078	0.993;0.992;0.995;0.997;0.979	D;D;D;D;D	0.73380	0.98;0.951;0.966;0.939;0.949	T	0.63175	-0.6696	10	0.87932	D	0	-1.4088	10.1274	0.42658	0.4075:0.0:0.5925:0.0	.	94;94;94;94;94	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	Y	94	ENSP00000278100:D94Y;ENSP00000299130:D94Y;ENSP00000357748:D94Y;ENSP00000394758:D94Y	ENSP00000278100:D94Y	D	+	1	0	BCCIP	127506156	0.828000	0.29307	0.003000	0.11579	0.970000	0.65996	1.817000	0.39002	-0.157000	0.11059	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1	1	0	1	79	318	0	65	1	1	78	168	0	65	2		0	0	0	0	0	2	1	1	77	313	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX32	55760	broad.mit.edu	37	10	127529488	127529488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127529488C>T	ENST00000284690.3	-	8	2111	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	AL360176.1_ENST00000401153.1_RNA|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32			29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)			TGATCTCCTTCGGGATGTAAA	0.413000																								0							SO:0001583	missense			ENST00000284690.3	1	1	hg19	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908434	0.92107	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.02579	4.24;4.24;4.24	4.75	4.75	0.60458	Helicase-associated domain (2);	0.165187	0.52532	D	0.000075	T	0.08891	0.0220	M	0.88450	2.955	0.53688	D	0.999973	P	0.41214	0.742	B	0.39258	0.295	T	0.02457	-1.1156	10	0.87932	D	0	-11.2385	16.4963	0.84246	0.0:1.0:0.0:0.0	.	541	Q7L7V1	DHX32_HUMAN	K	165;541;460	ENSP00000357710:E165K;ENSP00000284690:E541K;ENSP00000284688:E460K	ENSP00000284688:E460K	E	-	1	0	DHX32	127519478	0.996000	0.38824	0.988000	0.46212	0.956000	0.61745	4.222000	0.58580	2.470000	0.83445	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	0	0	1	139	520	1	141	1	1	30	116	1	141	6		0	0	0	0	0	2	1	1	137	509	1	139	17								-3.857597	1	1	121412	2	36	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX32	55760	broad.mit.edu	37	10	127542554	127542554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127542554G>A	ENST00000284690.3	-	4	1558	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	DHX32_ENST00000368721.1_5'UTR|DHX32_ENST00000284688.6_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32			29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)			CACCCACATCGATAACAAATC	0.378000																								0							SO:0001819	synonymous_variant			ENST00000284690.3	1	1	hg19	CCDS7652.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	1	0	1	90	419	0	108	1	1	23	100	0	108	2		0	0	0	0	0	2	1	1	87	405	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM12	8038	broad.mit.edu	37	10	127786984	127786984	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127786984C>A	ENST00000368679.4	-	10	1315		c.e10+1		ADAM12_ENST00000368676.4_Splice_Site	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12			69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)			CCTTGGCTTACCATGACAATT	0.473000																								0							SO:0001630	splice_region_variant			ENST00000368679.4	1	1	hg19	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347383	0.82022	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM12	127776974	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.502000	0.81614	2.655000	0.90218	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1	1	0	1	165	649	0	182		0	0	0	0	182	2		0	0	0	0	0	2	1	1	164	634	0	178	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM12	8038	broad.mit.edu	37	10	127806713	127806713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127806713G>A	ENST00000368679.4	-	6	815	c.506C>T	c.(505-507)gCg>gTg	p.A169V	ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12			69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)			CAGCTTCTTCGCTGGGAAGAG	0.438000																								0							SO:0001583	missense			ENST00000368679.4	1	1	hg19	CCDS7653.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	8.805	0.933822	0.18206	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21191	4.79;2.02;3.73	5.03	-1.72	0.08107	.	0.447781	0.22012	N	0.065856	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.29627	0.164;0.252;0.252;0.252;0.095	B;B;B;B;B	0.24394	0.024;0.053;0.053;0.053;0.016	T	0.32481	-0.9905	10	0.13853	T	0.58	.	2.4903	0.04608	0.3193:0.1111:0.4559:0.1137	.	166;166;169;166;169	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	169;169;166	ENSP00000357668:A169V;ENSP00000357665:A169V;ENSP00000391268:A166V	ENSP00000357665:A169V	A	-	2	0	ADAM12	127796703	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.068000	0.14531	-0.872000	0.04037	-1.731000	0.00696	GCG		TCGA-IB-7651-01A-11D-2154-08	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1	1	0	0	36	421	0	93	0	7.313263e-01	0	32	0	93	2		0	0	0	0	0	2	1	1	34	413	0	92	2								-3.142702	1	1	121412	3	40	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.950000	0.670000	1.000000	1.000000	0.916632	0.950000	1	8.000000e-01	1
CAMK1D	57118	broad.mit.edu	37	10	12858268	12858268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12858268C>T	ENST00000378847.3	+	8	1111	c.774C>T	c.(772-774)aaC>aaT	p.N258N	CAMK1D_ENST00000378845.1_Silent_p.N258N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID			16					TCATTCGGAACCTGATGGAGA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000378847.3	1	1	hg19	CCDS7091.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	1	0	1	23	187	0	45	0	9.351668e-01	1	39	0	45	2		0	0	0	0	0	2	1	9.999994e-01	23	181	0	45	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.990878	0.990000	1	9.900000e-01	1
DOCK1	1793	broad.mit.edu	37	10	128908593	128908593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128908593C>T	ENST00000280333.6	+	25	2644	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1			72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)			TCGAAATCGTCCACAGTGACC	0.428000																								0							SO:0001819	synonymous_variant			ENST00000280333.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1	21	74	0	18	1	9.999999e-01	29	90	0	18	2		0	0	0	0	0	2	1	9.999991e-01	21	74	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
FAM196A	642938	broad.mit.edu	37	10	128973575	128973575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128973575A>C	ENST00000522781.1	-	4	1640	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A			30					CATCATCTGAAGTTGTGCTTT	0.537000																								0							SO:0001583	missense			ENST00000522781.1	1	1	hg19	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296272	0.81025	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.72615	-0.67;-0.67	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83164	-0.0097	10	0.87932	D	0	.	15.1563	0.72746	1.0:0.0:0.0:0.0	.	362;362	B7ZME7;Q6ZSG2	.;F196A_HUMAN	R	362	ENSP00000429763:L362R;ENSP00000428730:L362R	ENSP00000428730:L362R	L	-	2	0	FAM196A	128863565	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.832000	0.92079	2.047000	0.60756	0.460000	0.39030	CTT		TCGA-IB-7651-01A-11D-2154-08	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	1	0	1	225	962	0	215	0	1.653050e-01	0	4	0	215	2		0	0	0	0	0	2	1	1	222	949	0	213	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK1	1793	broad.mit.edu	37	10	129160443	129160443	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129160443G>A	ENST00000280333.6	+	33	3445	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1			72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)			ATATGATGCAGTGTGAATTCC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000280333.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1	26	146	0	41	1	9.999737e-01	13	86	0	41	2		0	0	0	0	0	2	1	9.999999e-01	25	138	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999867	0.990000	1	9.900000e-01	1
DOCK1	1793	broad.mit.edu	37	10	129202634	129202634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129202634C>T	ENST00000280333.6	+	40	4109	c.4000C>T	c.(4000-4002)Ccc>Tcc	p.P1334S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1			72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)			AGTGATCAGGCCCAAGCCTGA	0.438000																								0							SO:0001583	missense			ENST00000280333.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	25.8	4.673705	0.88445	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.999	P;D;D	0.76575	0.826;0.988;0.952	T	0.01545	-1.1328	10	0.26408	T	0.33	.	18.8174	0.92081	0.0:1.0:0.0:0.0	.	1334;1400;1334	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	S	1334	ENSP00000280333:P1334S	ENSP00000280333:P1334S	P	+	1	0	DOCK1	129092624	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.529000	0.81952	2.746000	0.94184	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1	24	122	0	24	1	9.999943e-01	15	92	0	24	2		0	0	0	0	0	2	1	9.999998e-01	24	120	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999929	0.990000	1	9.900000e-01	1
DOCK1	1793	broad.mit.edu	37	10	129224193	129224193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129224193T>C	ENST00000280333.6	+	47	4878	c.4769T>C	c.(4768-4770)cTg>cCg	p.L1590P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1			72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)			ACGGAGGCACTGAGGCCGTTC	0.488000																								0							SO:0001583	missense			ENST00000280333.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	t	17.76	3.469373	0.63625	.	.	ENSG00000150760	ENST00000280333	T	0.17213	2.29	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000007	T	0.51568	0.1682	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.64774	-0.6328	10	0.87932	D	0	.	14.8644	0.70404	0.0:0.0:0.0:1.0	.	1590;1656;1590	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	P	1590	ENSP00000280333:L1590P	ENSP00000280333:L1590P	L	+	2	0	DOCK1	129114183	1.000000	0.71417	0.989000	0.46669	0.360000	0.29518	7.817000	0.86213	2.094000	0.63399	0.370000	0.22315	CTG		TCGA-IB-7651-01A-11D-2154-08	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1	187	823	0	213	1	1	17	108	0	213	2		0	0	0	0	0	2	1	1	186	803	0	210	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLRN3	119467	broad.mit.edu	37	10	129690991	129690991	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129690991A>T	ENST00000368671.3	-	1	220	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3			6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)			ACAATGAAGGACCCAAGGCTG	0.383000																								0							SO:0001583	missense			ENST00000368671.3	1	1	hg19	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780443	0.49891	.	.	ENSG00000180745	ENST00000368671	T	0.70749	-0.51	5.52	-5.86	0.02304	.	0.222808	0.38837	N	0.001554	T	0.65439	0.2691	M	0.62723	1.935	0.09310	N	0.999998	P	0.47484	0.896	P	0.45660	0.489	T	0.67189	-0.5733	10	0.44086	T	0.13	-14.6668	14.2358	0.65925	0.2353:0.699:0.0658:0.0	.	20	Q8NCR9	CLRN3_HUMAN	T	20	ENSP00000357660:S20T	ENSP00000357660:S20T	S	-	1	0	CLRN3	129580981	0.076000	0.21285	0.002000	0.10522	0.126000	0.20510	0.537000	0.23144	-0.709000	0.05008	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	1	0	1	86	384	0	79	1	9.999996e-01	64	32	0	79	2		0	0	0	0	0	2	1	1	84	381	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRE	5791	broad.mit.edu	37	10	129868066	129868066	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129868066A>G	ENST00000254667.3	+	13	1397	c.1118A>G	c.(1117-1119)cAg>cGg	p.Q373R	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E			22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)		Alendronate(DB00630)	ATCCGTAATCAGCGCCCTCAG	0.542000											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Colon(52;977 1184 20575 41685)											0							SO:0001583	missense			ENST00000254667.3	1	1	hg19	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819271	0.90873	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	D;D;D	0.85861	-2.04;-2.04;-2.04	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.90198	3.095	0.80722	D	1	D;D;P;D	0.76494	0.999;0.985;0.949;0.985	D;D;P;D	0.72338	0.977;0.93;0.814;0.93	D	0.93555	0.6890	10	0.45353	T	0.12	.	14.5529	0.68081	1.0:0.0:0.0:0.0	.	351;373;315;373	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	R	373;351;373;315	ENSP00000254667:Q373R;ENSP00000402337:Q373R;ENSP00000303350:Q315R	ENSP00000254667:Q373R	Q	+	2	0	PTPRE	129758056	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.106000	0.94253	2.099000	0.63709	0.533000	0.62120	CAG		TCGA-IB-7651-01A-11D-2154-08	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1	1	0	1	85	462	0	80	1	9.925980e-01	5	38	0	80	2		0	0	0	0	0	2	1	1	85	449	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67	4288	broad.mit.edu	37	10	129901952	129901952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129901952C>T	ENST00000368654.3	-	13	8527	c.8152G>A	c.(8152-8154)Gca>Aca	p.A2718T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			TTTGTGCTTGCTGTGGTGTCT	0.493000																								0							SO:0001583	missense			ENST00000368654.3	1	1	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.194393	0.01594	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02085	4.46;4.46	3.48	-2.61	0.06171	.	.	.	.	.	T	0.00666	0.0022	N	0.00317	-1.655	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.001;0.003;0.006	T	0.48468	-0.9033	9	0.10377	T	0.69	.	8.1379	0.31064	0.0:0.4302:0.0:0.5698	.	2717;2358;2718	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	2718;2358;2717	ENSP00000357643:A2718T;ENSP00000357642:A2358T	ENSP00000357642:A2358T	A	-	1	0	MKI67	129791942	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.647000	0.00860	-0.473000	0.06871	-0.794000	0.03295	GCA		TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	1	104	509	1	112	1	9.991462e-01	22	54	1	112	4		0	0	0	0	0	2	1	1	103	497	1	111	18								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67	4288	broad.mit.edu	37	10	129903573	129903573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129903573G>A	ENST00000368654.3	-	13	6906	c.6531C>T	c.(6529-6531)agC>agT	p.S2177S	MKI67_ENST00000368653.3_Silent_p.S1817S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			GCTGCCTCTTGCTACCAGTTA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000368654.3	1	1	hg19	CCDS7659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1	184	694	0	141	1	9.999657e-01	22	35	0	141	2		0	0	0	0	0	2	1	1	183	677	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67	4288	broad.mit.edu	37	10	129904345	129904345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129904345A>G	ENST00000368654.3	-	13	6134	c.5759T>C	c.(5758-5760)tTt>tCt	p.F1920S	MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			AGTCCCCACAAATGTGTTGAT	0.468000																								0							SO:0001583	missense			ENST00000368654.3	1	1	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891066	0.33348	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.66	-3.11	0.05299	.	0.693193	0.11826	N	0.525701	T	0.04815	0.0130	L	0.40543	1.245	0.09310	N	1	B;P;D	0.89917	0.22;0.811;1.0	B;P;D	0.77557	0.042;0.455;0.99	T	0.08932	-1.0698	10	0.06625	T	0.88	.	11.106	0.48203	0.4366:0.0:0.5634:0.0	.	1919;1560;1920	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1920;1560;1919	ENSP00000357643:F1920S;ENSP00000357642:F1560S	ENSP00000357642:F1560S	F	-	2	0	MKI67	129794335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	-0.812000	0.04363	-0.250000	0.11733	TTT		TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1	225	1161	0	237	1	9.982906e-01	18	32	0	237	2		0	0	0	0	0	2	1	1	221	1139	0	237	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67	4288	broad.mit.edu	37	10	129905311	129905311	+	Missense_Mutation	SNP	C	C	T	rs78597473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905311C>T	ENST00000368654.3	-	13	5168	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			AGTGTGACCTCGTGTCTGGAA	0.483000																								0							SO:0001583	missense			ENST00000368654.3	1	0	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968281	0.34754	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	3.07	2.16	0.27623	.	0.251885	0.26349	N	0.024891	T	0.01454	0.0047	N	0.08118	0	0.21445	N	0.999688	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.48502	-0.9030	10	0.30854	T	0.27	.	11.0914	0.48119	0.0:0.1897:0.8103:0.0	.	1597;1238;1598	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1598;1238;1597	ENSP00000357643:R1598Q;ENSP00000357642:R1238Q	ENSP00000357642:R1238Q	R	-	2	0	MKI67	129795301	0.211000	0.23529	0.105000	0.21289	0.025000	0.11179	1.344000	0.33941	0.893000	0.36288	-0.226000	0.12346	CGA		TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1	217	884	0	190	1	9.997703e-01	14	37	0	190	2		0	0	0	0	0	2	1	1	211	859	0	187	2								-3.200472	1	1	121412	1	34	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67	4288	broad.mit.edu	37	10	129905528	129905528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905528C>T	ENST00000368654.3	-	13	4951	c.4576G>A	c.(4576-4578)Gca>Aca	p.A1526T	MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			TTCCTGAGTGCGAAGAATTCT	0.493000																								0							SO:0001583	missense			ENST00000368654.3	1	1	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303393	0.23736	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02837	4.14;4.14	3.61	1.68	0.24146	.	1.738000	0.03536	N	0.223115	T	0.02649	0.0080	L	0.43152	1.355	0.09310	N	1	P;P;P	0.44478	0.614;0.803;0.836	B;B;B	0.32805	0.099;0.127;0.153	T	0.47699	-0.9097	10	0.12103	T	0.63	.	6.1017	0.20051	0.0:0.755:0.0:0.245	.	1525;1166;1526	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1526;1166;1525	ENSP00000357643:A1526T;ENSP00000357642:A1166T	ENSP00000357642:A1166T	A	-	1	0	MKI67	129795518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.129000	0.10515	0.322000	0.23283	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1	282	1333	0	315	1	9.996815e-01	18	38	0	315	2		0	0	0	0	0	2	1	1	273	1305	1	312	18								-20.000000	1	1	121412	7	46	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67	4288	broad.mit.edu	37	10	129906354	129906354	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906354G>T	ENST00000368654.3	-	13	4125	c.3750C>A	c.(3748-3750)ccC>ccA	p.P1250P	MKI67_ENST00000368653.3_Silent_p.P890P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			GAGAGTCGCAGGGTATTTTAG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000368654.3	1	1	hg19	CCDS7659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	1	131	626	0	122	1	9.914888e-01	13	24	0	122	2		0	0	0	0	0	2	1	1	126	611	1	121	20								-2.855931	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67	4288	broad.mit.edu	37	10	129906523	129906523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906523G>A	ENST00000368654.3	-	13	3956	c.3581C>T	c.(3580-3582)cCa>cTa	p.P1194L	MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			TTTCTGCACTGGAGTTCCCAT	0.493000																								0							SO:0001583	missense			ENST00000368654.3	1	1	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523639	0.64747	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.99	3.99	0.46301	.	1.135460	0.06812	N	0.790500	T	0.13628	0.0330	M	0.74647	2.275	0.46725	D	0.99917	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77557	0.947;0.963;0.99	T	0.00783	-1.1568	10	0.40728	T	0.16	.	14.6341	0.68676	0.0:0.0:1.0:0.0	.	1193;834;1194	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1194;834;1193	ENSP00000357643:P1194L;ENSP00000357642:P834L	ENSP00000357642:P834L	P	-	2	0	MKI67	129796513	0.540000	0.26410	0.041000	0.18516	0.057000	0.15508	2.410000	0.44592	1.956000	0.56807	0.462000	0.41574	CCA		TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	0	30	1147	0	209	0	1.775293e-01	1	28	0	209	2		0	0	0	0	0	2	1	1	29	1127	0	208	2								-2.188814	0	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.300000	0.200000	1.000000	0.300000	0.366494	0.300000	0	2.500000e-01	3.900000e-01
MKI67	4288	broad.mit.edu	37	10	129907026	129907026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129907026C>T	ENST00000368654.3	-	13	3453	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Silent_p.K666K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			CCAGGGATGCCTTCAACTGTT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000368654.3	1	1	hg19	CCDS7659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	0	528	2010	0	466	1	9.999750e-01	19	39	0	466	2		0	0	0	0	0	2	1	1	521	1953	0	463	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67	4288	broad.mit.edu	37	10	129913211	129913211	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129913211G>A	ENST00000368654.3	-	7	1836	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			CACCAAAGTTGTTGATATCAA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000368654.3	1	1	hg19	CCDS7659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	0	19	584	0	81	0	1.200252e-01	0	18	0	81	2		0	0	0	0	0	2	1	9.999895e-01	19	576	0	81	2								-16.487520	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.380000	0.230000	1.000000	0.370000	0.438616	0.380000	0	3.000000e-01	5.100000e-01
MKI67	4288	broad.mit.edu	37	10	129914033	129914033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129914033G>A	ENST00000368654.3	-	7	1014	c.639C>T	c.(637-639)agC>agT	p.S213S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			CTCCATAACGGCTCACTAATT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000368654.3	1	1	hg19	CCDS7659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	1	0	1	64	304	0	60	1	4.853991e-01	5	4	0	60	2		0	0	0	0	0	2	1	1	64	299	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADARB2	105	broad.mit.edu	37	10	1313190	1313190	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1313190G>A	ENST00000381312.1	-	4	1477	c.1152C>T	c.(1150-1152)caC>caT	p.H384H		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)			41		all_epithelial(10;0.059)|Colorectal(49;0.0815)			TATGGCGGGCGTGCATGGGCG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000381312.1	1	1	hg19	CCDS7058.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	1	0	1	23	99	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999993e-01	20	92	0	17	2								-2.909656	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
EBF3	253738	broad.mit.edu	37	10	131640509	131640509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131640509C>T	ENST00000355311.5	-	13	1315	c.1243G>A	c.(1243-1245)Gtt>Att	p.V415I	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.V406I			Q9H4W6	COE3_HUMAN	early B-cell factor 3			44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)			TTGCGGGGAACGCTGTACAGC	0.642000																								0							SO:0001583	missense			ENST00000355311.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.02	3.531062	0.64972	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.65	5.54	5.54	0.83059	.	0.111763	0.64402	D	0.000012	T	0.50137	0.1598	M	0.69823	2.125	0.53688	D	0.999971	B	0.30937	0.301	B	0.27170	0.077	T	0.46331	-0.9199	10	0.30078	T	0.28	-17.9183	19.8561	0.96761	0.0:1.0:0.0:0.0	.	406	Q9H4W6-2	.	I	415;406	ENSP00000347463:V415I;ENSP00000357637:V406I	ENSP00000347463:V415I	V	-	1	0	EBF3	131530499	1.000000	0.71417	0.971000	0.41717	0.838000	0.47535	6.018000	0.70811	2.776000	0.95493	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	0	0	0	23	862	0	171	0	7.617539e-04	0	2	0	171	2		0	0	0	0	0	2	1	9.999993e-01	23	855	0	171	2								-3.159622	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.310000	0.200000	1.000000	0.310000	0.374409	0.310000	0	2.500000e-01	4.100000e-01
EBF3	253738	broad.mit.edu	37	10	131666130	131666130	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131666130C>T	ENST00000355311.5	-	9	900	c.828G>A	c.(826-828)acG>acA	p.T276T	EBF3_ENST00000368648.3_Silent_p.T267T			Q9H4W6	COE3_HUMAN	early B-cell factor 3			44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)			TGGCACCCCCCGTGGTCCAGC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000355311.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	1	0	1	58	266	0	64	0	8.677645e-02	0	3	0	64	2	0	0	0	1	0	0	2	1	1	57	261	0	62	2								-2.407291	0	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EBF3	253738	broad.mit.edu	37	10	131761748	131761748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131761748C>T	ENST00000355311.5	-	2	246	c.174G>A	c.(172-174)ccG>ccA	p.P58P	EBF3_ENST00000368648.3_Silent_p.P58P			Q9H4W6	COE3_HUMAN	early B-cell factor 3			44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)			GGTTGGAAGGCGGCTGCTTCT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000355311.5	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	0	0	0	9	315	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	9.940580e-01	9	311	0	43	2								-9.291012	1	1	121390	1	29	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.350000	0.170000	1.000000	0.320000	0.410618	0.350000	0	2.400000e-01	5.200000e-01
GLRX3	10539	broad.mit.edu	37	10	131973336	131973336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131973336G>A	ENST00000368644.1	+	10	962	c.940G>A	c.(940-942)Gga>Aga	p.G314R	GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3			13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)			GCTGGTGGGAGGATTGGATAT	0.393000																								0							SO:0001583	missense			ENST00000368644.1	1	1	hg19	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253560	0.80135	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.29142	1.58;1.58	4.17	4.17	0.49024	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	H	0.99143	4.445	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.85132	0.0975	10	0.87932	D	0	-15.7007	15.2207	0.73308	0.0:0.0:1.0:0.0	.	314	O76003	GLRX3_HUMAN	R	314	ENSP00000330836:G314R;ENSP00000357633:G314R	ENSP00000330836:G314R	G	+	1	0	GLRX3	131863326	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.721000	0.91446	2.171000	0.68590	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	1	0	1	31	191	0	44	1	1	117	236	0	44	2		0	0	0	0	0	2	1	1	32	189	0	44	2								-3.226969	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999833	0.990000	1	9.900000e-01	1
MCM10	55388	broad.mit.edu	37	10	13246275	13246275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13246275C>A	ENST00000484800.2	+	18	2515	c.2412C>A	c.(2410-2412)taC>taA	p.Y804*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.Y803*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10			9					AGCATGAATACCACTGGCATG	0.512000																								0							SO:0001587	stop_gained			ENST00000484800.2	0	1	hg19	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999927	0.93227	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.42	2.55	0.30701	.	0.488980	0.23155	N	0.051314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.5109	7.6026	0.28085	0.1349:0.7218:0.0:0.1433	.	.	.	.	X	803;804;804;803	.	ENSP00000354945:Y804X	Y	+	3	2	MCM10	13286281	0.985000	0.35326	0.937000	0.37676	0.037000	0.13140	0.472000	0.22116	0.661000	0.30985	-0.169000	0.13324	TAC		TCGA-IB-7651-01A-11D-2154-08	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	1	0	1	66	232	0	55	0	7.366683e-01	1	10	0	55	2		0	0	0	0	0	2	1	1	66	231	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UCMA	221044	broad.mit.edu	37	10	13276255	13276255	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13276255T>G	ENST00000378681.3	-	1	76	c.4A>C	c.(4-6)Act>Cct	p.T2P	UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated			9					TGTCTCCAAGTCATCTTTGCA	0.602000																								0							SO:0001583	missense			ENST00000378681.3	1	1	hg19	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966081	0.34659	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.08	1.47	0.22746	.	0.707604	0.14026	N	0.346452	T	0.28101	0.0693	L	0.36672	1.1	0.22280	N	0.999234	B	0.25105	0.118	B	0.26416	0.069	T	0.23691	-1.0181	9	0.46703	T	0.11	1.1185	2.6256	0.04928	0.2076:0.2732:0.0:0.5192	.	2	Q8WVF2	UCMA_HUMAN	P	2	.	ENSP00000367952:T2P	T	-	1	0	UCMA	13316261	0.998000	0.40836	0.984000	0.44739	0.555000	0.35460	0.630000	0.24553	0.008000	0.14787	0.459000	0.35465	ACT		TCGA-IB-7651-01A-11D-2154-08	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	1	0	1	20	135	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	9.999970e-01	20	135	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.997412	0.990000	1	9.900000e-01	1
TCERG1L	256536	broad.mit.edu	37	10	132891434	132891434	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:132891434T>G	ENST00000368642.4	-	12	1837	c.1752A>C	c.(1750-1752)aaA>aaC	p.K584N	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like			31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)			CTCATCTCATTTTCCGCAGCC	0.512000																								0							SO:0001583	missense			ENST00000368642.4	1	1	hg19	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951676	0.73787	.	.	ENSG00000176769	ENST00000368642	T	0.32515	1.45	4.91	-0.0918	0.13659	.	0.000000	0.53938	D	0.000044	T	0.40398	0.1115	L	0.54323	1.7	0.53688	D	0.999972	D	0.69078	0.997	P	0.60789	0.879	T	0.16276	-1.0408	10	0.87932	D	0	-1.323	8.3344	0.32206	0.0:0.332:0.0:0.668	.	584	Q5VWI1	TCRGL_HUMAN	N	584	ENSP00000357631:K584N	ENSP00000357631:K584N	K	-	3	2	TCERG1L	132781424	0.991000	0.36638	0.985000	0.45067	0.984000	0.73092	0.118000	0.15605	-0.280000	0.09154	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	1	0	1	46	234	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	46	231	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCERG1L	256536	broad.mit.edu	37	10	133058578	133058578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133058578C>T	ENST00000368642.4	-	4	885	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like			31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)			CAGGAAGTGGCGCGGCTGCAC	0.701000																								0							SO:0001583	missense			ENST00000368642.4	1	1	hg19	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090020	0.55968	.	.	ENSG00000176769	ENST00000368642	T	0.22743	1.94	5.2	4.29	0.51040	.	0.157333	0.45126	D	0.000395	T	0.07548	0.0190	N	0.08118	0	0.23677	N	0.997137	P	0.43314	0.803	B	0.29353	0.101	T	0.25257	-1.0137	10	0.15066	T	0.55	-1.6377	10.7194	0.46032	0.0:0.9105:0.0:0.0895	.	267	Q5VWI1	TCRGL_HUMAN	H	267	ENSP00000357631:R267H	ENSP00000357631:R267H	R	-	2	0	TCERG1L	132948568	0.946000	0.32159	0.850000	0.33497	0.813000	0.45954	0.607000	0.24209	1.168000	0.42723	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	1	0	1	23	107	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999996e-01	23	105	0	23	2								-20.000000	1	1	120980	3	32	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999961	0.990000	1	9.900000e-01	1
PHYH	5264	broad.mit.edu	37	10	13323092	13323092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13323092C>T	ENST00000263038.4	-	8	905	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	PHYH_ENST00000396913.2_Missense_Mutation_p.A183T|PHYH_ENST00000396920.3_Missense_Mutation_p.A266T	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase			25		Ovarian(717;0.0448)		Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCGGCACTGGCGAAATGGCAG	0.418000																								0							SO:0001583	missense			ENST00000263038.4	1	1	hg19	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251918	0.59212	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.90133	-2.62;-2.62;-2.62	5.47	4.57	0.56435	.	0.051774	0.85682	D	0.000000	D	0.94863	0.8340	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65443	0.859;0.935	D	0.94949	0.8098	10	0.54805	T	0.06	-13.5846	14.1998	0.65696	0.0:0.9281:0.0:0.0719	.	266;283	B1ALH6;O14832	.;PAHX_HUMAN	T	183;283;266	ENSP00000380121:A183T;ENSP00000263038:A283T;ENSP00000380126:A266T	ENSP00000263038:A283T	A	-	1	0	PHYH	13363098	1.000000	0.71417	0.011000	0.14972	0.115000	0.19883	4.724000	0.61972	1.331000	0.45412	-0.229000	0.12294	GCC		TCGA-IB-7651-01A-11D-2154-08	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2	1	0	1	52	219	0	57	1	1	97	205	0	57	2		0	0	0	0	0	2	1	1	51	218	0	57	2								-3.438029	1	1	121412	5	34	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHYH	5264	broad.mit.edu	37	10	13330532	13330532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13330532G>A	ENST00000263038.4	-	6	564	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PHYH_ENST00000396913.2_Missense_Mutation_p.T69M|PHYH_ENST00000396920.3_Missense_Mutation_p.T152M	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase			25		Ovarian(717;0.0448)		Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GTGACGGGACGTCTTCTTGCC	0.542000																								0							SO:0001583	missense			ENST00000263038.4	1	1	hg19	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176313	0.78564	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.8	4.89	0.63831	.	0.046113	0.85682	D	0.000000	D	0.95762	0.8621	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	D	0.96017	0.9006	10	0.87932	D	0	-23.7368	11.1462	0.48432	0.0:0.254:0.6126:0.1333	.	152;169	B1ALH6;O14832	.;PAHX_HUMAN	M	69;169;152;69;171	ENSP00000380121:T69M;ENSP00000263038:T169M;ENSP00000380126:T152M;ENSP00000412525:T69M;ENSP00000420117:T171M	ENSP00000263038:T169M	T	-	2	0	PHYH	13370538	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	5.212000	0.65225	1.444000	0.47605	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2	1	0	0	14	368	0	75	1	9.989686e-01	25	280	0	75	2		0	0	0	0	0	2	1	9.997179e-01	14	358	0	75	2								-14.170850	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.450000	0.250000	1.000000	0.430000	0.486889	0.450000	0	3.400000e-01	6.000000e-01
BNIP3	664	broad.mit.edu	37	10	133784250	133784250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133784250C>T	ENST00000368636.4	-	5	555	c.431G>A	c.(430-432)aGc>aAc	p.S144N	BNIP3_ENST00000540159.1_Missense_Mutation_p.S144N	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3			7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)			GTTCCTCATGCTGAGGGTGGC	0.537000																								0							SO:0001583	missense			ENST00000368636.4	1	1	hg19	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751290	0.89753	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.88640	2.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88300	0.2949	9	0.87932	D	0	-10.6238	17.9813	0.89141	0.0:1.0:0.0:0.0	.	144	Q12983	BNIP3_HUMAN	N	144	.	ENSP00000357625:S144N	S	-	2	0	BNIP3	133634240	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.744000	0.74854	2.423000	0.82170	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1	1	0	1	60	209	0	61	1	1	79	229	0	61	2		0	0	0	0	0	2	1	1	58	202	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAKMIP3	282973	broad.mit.edu	37	10	133955529	133955529	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133955529C>T	ENST00000298622.4	+	10	1717	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3			31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)			TGGAGGGACGCTGGACGCAGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000298622.4	0	1	hg19	CCDS44494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	1	0	1	8	44	0	13	0	3.030303e-02	0	2	0	13	2		0	0	0	0	0	2	1	9.913360e-01	8	44	0	13	2								-15.990220	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.850000	1.000000	1.000000	0.991211	0.990000	1	9.900000e-01	1
DPYSL4	10570	broad.mit.edu	37	10	134010555	134010555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134010555C>A	ENST00000338492.4	+	6	735	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	DPYSL4_ENST00000368627.1_Missense_Mutation_p.L114M|DPYSL4_ENST00000368629.1_Missense_Mutation_p.L114M	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4			32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)			CATCCGGGACCTGGGGGCCTT	0.682000																								0							SO:0001583	missense			ENST00000338492.4	0	1	hg19	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932821	0.73442	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90676	-2.71;-2.56;-2.56	4.5	4.5	0.54988	Amidohydrolase 1 (1);	0.000000	0.64402	D	0.000001	D	0.95799	0.8633	M	0.87381	2.88	0.44123	D	0.996904	D	0.89917	1.0	D	0.97110	1.0	D	0.96535	0.9396	10	0.72032	D	0.01	-9.8789	17.0322	0.86464	0.0:1.0:0.0:0.0	.	191	O14531	DPYL4_HUMAN	M	191;114;114	ENSP00000339850:L191M;ENSP00000357618:L114M;ENSP00000357616:L114M	ENSP00000339850:L191M	L	+	1	2	DPYSL4	133860545	0.404000	0.25328	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	2.352000	0.79861	0.585000	0.79938	CTG		TCGA-IB-7651-01A-11D-2154-08	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2	0	0	0	19	74	0	10	0	8.357319e-01	0	15	0	10	2		0	0	0	0	0	2	1	9.999948e-01	18	73	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
DPYSL4	10570	broad.mit.edu	37	10	134012464	134012464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134012464C>T	ENST00000338492.4	+	8	964	c.800C>T	c.(799-801)gCc>gTc	p.A267V	DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4			32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)			ATCGCTCAGGCCAAGCGCAGA	0.672000																								0							SO:0001583	missense			ENST00000338492.4	1	1	hg19	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099403	0.94197	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.92545	-3.06;-3.06;-3.06	3.94	3.94	0.45596	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98832	1.0751	10	0.87932	D	0	-8.8405	16.6038	0.84823	0.0:1.0:0.0:0.0	.	267	O14531	DPYL4_HUMAN	V	267;167;167	ENSP00000339850:A267V;ENSP00000357618:A167V;ENSP00000357616:A167V	ENSP00000339850:A267V	A	+	2	0	DPYSL4	133862454	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.237000	0.78164	2.209000	0.71365	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2	1	0	1	58	207	0	28	0	5.537442e-01	0	8	0	28	2		0	0	0	0	0	2	1	1	58	203	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC27	80313	broad.mit.edu	37	10	134158066	134158066	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134158066C>T	ENST00000368614.3	+	5	570	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000356571.4_Missense_Mutation_p.R136C|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000368615.3_Silent_p.L155L|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368613.4_Silent_p.L155L	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27			18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)			CTCCTCAGCTCGTTGTGCAGA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000368614.3	1	1	hg19	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.78|10.78	1.447569|1.447569	0.26074|0.26074	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000356571|ENST00000450442	T|.	0.62941|.	-0.01|.	5.16|5.16	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.25005|0.25005	0.0607|0.0607	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23940|0.23940	-1.0174|-1.0174	6|4	0.49607|.	T|.	0.09|.	-1.6037|-1.6037	9.3344|9.3344	0.38040|0.38040	0.0:0.1366:0.4286:0.4348|0.0:0.1366:0.4286:0.4348	.|.	.|.	.|.	.|.	C|L	136|107	ENSP00000348978:R136C|.	ENSP00000348978:R136C|.	R|S	+|+	1|2	0|0	LRRC27|LRRC27	134008056|134008056	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.558000|-1.558000	0.02164|0.02164	-2.268000|-2.268000	0.00685|0.00685	-0.136000|-0.136000	0.14681|0.14681	CGT|TCG		TCGA-IB-7651-01A-11D-2154-08	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	0	0	1	105	413	0	94	1	9.435132e-01	4	17	0	94	2		0	0	0	0	0	2	1	1	105	406	0	91	2								-3.450577	1	1	121412	3	36	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC27	80313	broad.mit.edu	37	10	134161812	134161812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134161812C>T	ENST00000368614.3	+	6	983	c.878C>T	c.(877-879)gCg>gTg	p.A293V	LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000392638.2_Missense_Mutation_p.A293V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27			18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)			AATCTCAAGGCGGCCTTGAAC	0.463000																								0							SO:0001583	missense			ENST00000368614.3	1	1	hg19	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.76|11.76	1.733321|1.733321	0.30684|0.30684	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000450442	T;T;T;T;T;T;T;T|.	0.48836|.	2.51;2.44;2.44;2.4;2.4;4.16;4.16;0.8|.	4.01|4.01	2.09|2.09	0.27110|0.27110	.|.	0.228756|.	0.27787|.	N|.	0.017860|.	T|T	0.27489|0.27489	0.0675|0.0675	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;D;B;B;B|.	0.65815|.	0.032;0.995;0.141;0.033;0.131|.	B;P;B;B;B|.	0.59357|.	0.018;0.856;0.042;0.012;0.018|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.45353|.	T|.	0.12|.	-12.7724|-12.7724	4.1531|4.1531	0.10247|0.10247	0.233:0.6465:0.0:0.1206|0.233:0.6465:0.0:0.1206	.|.	293;166;231;293;293|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3|.	.;.;.;LRC27_HUMAN;.|.	V|W	293;293;293;293;293;231;231;166|245	ENSP00000357604:A293V;ENSP00000376413:A293V;ENSP00000342641:A293V;ENSP00000357603:A293V;ENSP00000357602:A293V;ENSP00000357601:A231V;ENSP00000357599:A231V;ENSP00000407949:A166V|.	ENSP00000342641:A293V|.	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134011802|134011802	0.003000|0.003000	0.15002|0.15002	0.128000|0.128000	0.21923|0.21923	0.082000|0.082000	0.17680|0.17680	0.114000|0.114000	0.15520|0.15520	0.964000|0.964000	0.38108|0.38108	0.591000|0.591000	0.81541|0.81541	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	1	0	1	119	517	0	117	1	9.855125e-01	8	23	0	117	2		0	0	0	0	0	2	1	1	117	503	0	116	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC27	80313	broad.mit.edu	37	10	134188633	134188633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188633C>T	ENST00000368614.3	+	11	1585	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	LRRC27_ENST00000368610.3_Nonsense_Mutation_p.R432*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27			18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)			CAAAGATCGTCGACGGGCGGC	0.468000																								0							SO:0001587	stop_gained			ENST00000368614.3	0	1	hg19	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324770	0.60634	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	.	.	.	3.44	-2.22	0.06952	.	3.434310	0.00988	N	0.003486	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.6575	4.1289	0.10139	0.0:0.3457:0.3364:0.3179	.	.	.	.	X	494;494;432;432	.	ENSP00000357599:R432X	R	+	1	2	LRRC27	134038623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.239000	0.08965	-0.487000	0.06735	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	1	0	1	66	275	0	62	1	9.183369e-01	3	17	0	62	2		0	0	0	0	0	2	1	1	66	270	0	62	2								-20.000000	1	0	121412	6	41	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC27	80313	broad.mit.edu	37	10	134188732	134188732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188732C>T	ENST00000368614.3	+	11	1684	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	LRRC27_ENST00000368610.3_Missense_Mutation_p.R465C|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27			18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)			AGGAAATGTTCGCAGATACCA	0.552000																								0							SO:0001583	missense			ENST00000368614.3	1	1	hg19	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243219	0.22796	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T	0.17528	2.27;2.27;4.03;4.03	3.03	-3.05	0.05396	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33007	-0.9885	9	0.87932	D	0	.	4.3647	0.11218	0.0:0.3271:0.4023:0.2706	.	465;527	Q9C0I9-2;Q9C0I9	.;LRC27_HUMAN	C	527;527;465;465	ENSP00000357603:R527C;ENSP00000357602:R527C;ENSP00000357601:R465C;ENSP00000357599:R465C	ENSP00000357599:R465C	R	+	1	0	LRRC27	134038722	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.603000	0.02077	-0.640000	0.05495	-0.469000	0.05056	CGC		TCGA-IB-7651-01A-11D-2154-08	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	1	0	1	39	212	0	57	1	9.012794e-01	6	18	0	57	2		0	0	0	0	0	2	1	1	38	208	0	57	2								-20.000000	1	0	121412	5	37	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
PWWP2B	170394	broad.mit.edu	37	10	134218335	134218335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134218335G>A	ENST00000305233.5	+	2	390	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B			9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)			GCCGCTGCCCGCCGGAAGCCT	0.756000																								0							SO:0001583	missense			ENST00000305233.5	1	1	hg19	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143618	0.01728	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.55760	0.5;1.5	3.71	2.72	0.32119	.	0.363325	0.20623	U	0.088734	T	0.35711	0.0941	L	0.38175	1.15	0.18873	N	0.999989	B	0.17852	0.024	B	0.06405	0.002	T	0.13764	-1.0497	10	0.23302	T	0.38	-1.9873	5.7131	0.17945	0.1733:0.0:0.8267:0.0	.	111	Q6NUJ5	PWP2B_HUMAN	T	111	ENSP00000306324:A111T;ENSP00000357598:A111T	ENSP00000306324:A111T	A	+	1	0	PWWP2B	134068325	0.001000	0.12720	0.069000	0.20011	0.392000	0.30506	-0.086000	0.11233	0.825000	0.34637	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	1	0	0	16	66	0	13	1	4.900790e-01	4	4	0	13	2		0	0	0	0	0	2	1	9.997768e-01	16	50	0	8	2								-20.000000	1	1	113894	5	30	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999846	0.990000	1	9.900000e-01	1
PWWP2B	170394	broad.mit.edu	37	10	134219145	134219145	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219145T>C	ENST00000305233.5	+	2	1200	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B			9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)			GGCGGACTTGTCTTCTGGAAG	0.677000																								0							SO:0001583	missense			ENST00000305233.5	1	1	hg19	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889976	0.33348	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.58210	0.35;1.33	4.51	3.27	0.37495	.	0.085660	0.50627	U	0.000103	T	0.54598	0.1868	L	0.32530	0.975	0.21020	N	0.999802	D	0.71674	0.998	D	0.65773	0.938	T	0.38757	-0.9646	10	0.29301	T	0.29	-10.9623	9.4798	0.38893	0.158:0.0:0.0:0.842	.	381	Q6NUJ5	PWP2B_HUMAN	P	381	ENSP00000306324:S381P;ENSP00000357598:S381P	ENSP00000306324:S381P	S	+	1	0	PWWP2B	134069135	0.972000	0.33761	0.209000	0.23619	0.039000	0.13416	1.739000	0.38217	1.815000	0.52974	0.460000	0.39030	TCT		TCGA-IB-7651-01A-11D-2154-08	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	1	0	1	116	383	0	66	1	9.965893e-01	9	22	0	66	2		0	0	0	0	0	2	1	1	114	377	0	66	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PWWP2B	170394	broad.mit.edu	37	10	134219225	134219225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219225C>T	ENST00000305233.5	+	2	1280	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PWWP2B_ENST00000368609.4_Silent_p.L407L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B			9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)			TGGCTTTTCTCGTCAGCTGCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000305233.5	1	1	hg19	CCDS7667.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	1	0	1	72	291	0	51	1	9.969360e-01	15	23	0	51	2		0	0	0	0	0	2	1	1	72	282	0	51	2								-3.610844	1	0	121136	3	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPP5A	3632	broad.mit.edu	37	10	134563063	134563063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134563063G>A	ENST00000368594.3	+	10	1052	c.775G>A	c.(775-777)Gac>Aac	p.D259N	INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa			15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)			CCGGGCCGCCGACACCAATGA	0.632000													Pancreas(63;823 1267 11107 20380 51626)											0							SO:0001583	missense			ENST00000368594.3	1	1	hg19	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148323	0.21288	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.50277	0.75;0.75	5.1	5.1	0.69264	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.252635	0.45361	D	0.000366	T	0.50360	0.1611	N	0.26130	0.795	0.58432	D	0.999998	D;D	0.67145	0.98;0.996	P;P	0.57846	0.733;0.828	T	0.33828	-0.9853	10	0.15066	T	0.55	-37.3962	18.9259	0.92544	0.0:0.0:1.0:0.0	.	259;259	Q14642;Q5T1B5	I5P1_HUMAN;.	N	259;259;176	ENSP00000357583:D259N;ENSP00000357582:D259N	ENSP00000357582:D259N	D	+	1	0	INPP5A	134413053	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	6.871000	0.75531	2.547000	0.85894	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	1	0	1	59	322	0	72	1	9.999972e-01	16	88	0	72	2		0	0	0	0	0	2	1	1	59	314	0	72	2								-3.324644	1	1	121402	3	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKX6-2	84504	broad.mit.edu	37	10	134598469	134598469	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134598469T>G	ENST00000368592.5	-	3	888	c.785A>C	c.(784-786)aAc>aCc	p.N262T	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2			3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)			CAGCGCCAAGTTCGAGGGTTT	0.677000																								0							SO:0001583	missense			ENST00000368592.5	1	1	hg19	CCDS7670.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895624	0.33442	.	.	ENSG00000148826	ENST00000368592	T	0.54071	0.59	3.07	1.92	0.25849	.	0.054125	0.64402	D	0.000001	T	0.42539	0.1207	L	0.60455	1.87	0.53688	D	0.999972	B	0.15473	0.013	B	0.14023	0.01	T	0.24440	-1.0160	10	0.34782	T	0.22	-28.5154	5.673	0.17733	0.0:0.0976:0.1703:0.7321	.	262	Q9C056	NKX62_HUMAN	T	262	ENSP00000357581:N262T	ENSP00000357581:N262T	N	-	2	0	NKX6-2	134448459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.931000	0.28871	0.571000	0.29365	0.379000	0.24179	AAC		TCGA-IB-7651-01A-11D-2154-08	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2	1	0	0	46	217	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	43	213	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR123	84435	broad.mit.edu	37	10	134884441	134884441	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134884441C>T	ENST00000607359.1	+	1	9	c.9C>T	c.(7-9)ggC>ggT	p.G3G				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123			14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)			AGATGCGAGGCCACGGGAACC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000607359.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2	0	0	0	5	75	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.375533e-01	5	74	0	20	2								-9.915884	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.810000	0.310000	1.000000	1.000000	0.776417	0.810000	0	5.100000e-01	1
BEND7	222389	broad.mit.edu	37	10	13489312	13489312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13489312G>A	ENST00000396900.2	-	8	1187	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	BEND7_ENST00000378605.3_Silent_p.I357I|BEND7_ENST00000341083.3_Silent_p.I345I|BEND7_ENST00000396898.2_Silent_p.I409I|BEND7_ENST00000486542.1_5'UTR			Q8N7W2	BEND7_HUMAN	BEN domain containing 7			17					CACTGTCCGCGATCTCTGCTG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000396900.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	BEND7-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	54	436	0	98	1	7.785489e-01	2	23	0	98	2		0	0	0	0	0	2	1	1	54	430	0	98	2								-3.017764	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998830	0.990000	1	9.900000e-01	1
GPR123	84435	broad.mit.edu	37	10	134893885	134893885	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134893885C>A	ENST00000607359.1	+	4	830	c.830C>A	c.(829-831)gCt>gAt	p.A277D				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123			14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)			TGCTCCAGGGCTGTGGGTAAG	0.682000																								0							SO:0001583	missense			ENST00000607359.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	5.021	0.189542	0.09547	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.4	1.4	0.22301	.	11.497300	0.01412	U	0.014053	T	0.26159	0.0638	.	.	.	0.31640	N	0.64811	P	0.40302	0.712	B	0.32928	0.155	T	0.35276	-0.9795	7	0.87932	D	0	.	6.2115	0.20631	0.0:1.0:0.0:0.0	.	277	Q86SQ6-1	.	D	277	.	ENSP00000357566:A277D	A	+	2	0	GPR123	134743875	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	-0.059000	0.11731	1.079000	0.41038	0.460000	0.39030	GCT		TCGA-IB-7651-01A-11D-2154-08	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2	0	0	0	10	22	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.983743e-01	10	22	0	10	2								-19.998320	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999772	0.990000	1	9.900000e-01	1
GPR123	84435	broad.mit.edu	37	10	134942098	134942098	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942098C>T	ENST00000392607.3	+	7	1202	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	GPR123_ENST00000607359.1_Silent_p.L975L|GPR123_ENST00000392606.2_Silent_p.L159L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123			14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)			CCAGGCACAGCTGCGCGCCGC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000392607.3	0	1	hg19	CCDS41580.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2	1	0	0	7	65	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.814892e-01	7	64	0	9	2								-13.350510	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.540000	1.000000	1.000000	0.935834	0.990000	1	8.200000e-01	1
GPR123	84435	broad.mit.edu	37	10	134942239	134942239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942239C>T	ENST00000392607.3	+	7	1343	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	GPR123_ENST00000607359.1_Missense_Mutation_p.L1022F|GPR123_ENST00000392606.2_Missense_Mutation_p.L206F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123			14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)			ACTCTTCGTGCTCATCCACCA	0.682000																								0							SO:0001583	missense			ENST00000392607.3	1	1	hg19	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.401612	0.62288	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.38722	1.12	4.91	3.98	0.46160	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.45606	D	0.000345	T	0.48840	0.1522	M	0.69823	2.125	0.58432	D	0.999995	B;B	0.27791	0.09;0.189	B;P	0.45794	0.084;0.493	T	0.38067	-0.9678	10	0.12766	T	0.61	-43.9164	6.9616	0.24599	0.0:0.727:0.1787:0.0943	.	303;1022	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	F	1022;303;207	ENSP00000376384:L303F	ENSP00000357566:L1022F	L	+	1	0	GPR123	134792229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.313000	0.43735	1.162000	0.42619	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2	1	0	1	46	182	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	45	181	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR123	84435	broad.mit.edu	37	10	134942485	134942485	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942485G>C	ENST00000392607.3	+	7	1589	c.1153G>C	c.(1153-1155)Gcc>Ccc	p.A385P	GPR123_ENST00000607359.1_Missense_Mutation_p.A1104P|GPR123_ENST00000392606.2_Missense_Mutation_p.A288P	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123			14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)			CCCGTGCTGCGCCAAGATGCA	0.721000																								0							SO:0001583	missense			ENST00000392607.3	0	1	hg19	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.664190	0.67700	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.04603	3.59	4.42	3.51	0.40186	.	0.205916	0.32503	N	0.006010	T	0.16300	0.0392	M	0.64997	1.995	0.53005	D	0.999969	B;D	0.76494	0.112;0.999	B;D	0.70935	0.064;0.971	T	0.00417	-1.1752	10	0.87932	D	0	-29.5881	11.7426	0.51801	0.0:0.0:0.822:0.178	.	385;1104	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	P	1104;385;289	ENSP00000376384:A385P	ENSP00000357566:A1104P	A	+	1	0	GPR123	134792475	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	6.988000	0.76212	1.202000	0.43218	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2	0	0	0	3	29	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	7.922597e-01	3	27	0	11	2								-8.435924	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.350000	1.000000	1.000000	0.886351	0.990000	1	6.700000e-01	1
GPR123	84435	broad.mit.edu	37	10	134942923	134942923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942923C>T	ENST00000392607.3	+	7	2027	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	GPR123_ENST00000607359.1_Missense_Mutation_p.P1250S|GPR123_ENST00000392606.2_Missense_Mutation_p.P434S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123			14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)			GAACGGGCTGCCCAAGGGTAA	0.647000																								0							SO:0001583	missense			ENST00000392607.3	1	1	hg19	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.239772	0.22711	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.03717	3.83	4.48	3.57	0.40892	.	1.001760	0.08053	N	0.996883	T	0.03739	0.0106	N	0.24115	0.695	0.23076	N	0.998337	B;B	0.32324	0.015;0.364	B;B	0.24269	0.002;0.052	T	0.45891	-0.9230	10	0.62326	D	0.03	.	12.7013	0.57034	0.0:0.833:0.1669:0.0	.	531;1250	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	1250;531;435	ENSP00000376384:P531S	ENSP00000357566:P1250S	P	+	1	0	GPR123	134792913	1.000000	0.71417	0.108000	0.21378	0.151000	0.21798	1.687000	0.37680	0.995000	0.38917	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2	1	0	1	13	100	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.996194e-01	13	99	0	34	2								-19.960620	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.780000	1.000000	1.000000	0.984776	0.990000	1	9.900000e-01	1
KNDC1	85442	broad.mit.edu	37	10	134996942	134996942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134996942C>T	ENST00000304613.3	+	4	476	c.455C>T	c.(454-456)gCg>gTg	p.A152V	KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V|KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1			60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)			GACCTCGAGGCGCTGCTGAGC	0.697000																								0							SO:0001583	missense			ENST00000304613.3	1	1	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034408	0.35893	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.74209	-0.82;-0.82;2.17	4.39	0.088	0.14452	KIND (2);	0.821147	0.10660	N	0.648876	T	0.52645	0.1747	L	0.36672	1.1	0.19300	N	0.99997	B;P	0.35011	0.086;0.48	B;B	0.21151	0.011;0.033	T	0.38757	-0.9646	10	0.36615	T	0.2	-2.8011	1.4725	0.02419	0.1652:0.461:0.1731:0.2008	.	87;152	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	V	152;152;87	ENSP00000304437:A152V;ENSP00000357561:A152V;ENSP00000357560:A87V	ENSP00000304437:A152V	A	+	2	0	KNDC1	134846932	0.000000	0.05858	0.970000	0.41538	0.924000	0.55760	-0.626000	0.05527	-0.182000	0.10602	0.450000	0.29827	GCG		TCGA-IB-7651-01A-11D-2154-08	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1	11	60	0	16	1	6.336894e-01	8	5	0	16	2		0	0	0	0	0	2	1	9.986826e-01	11	59	0	16	2								-19.500730	1	1	120700	2	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.960000	1.000000	1.000000	0.996390	0.990000	1	9.900000e-01	1
KNDC1	85442	broad.mit.edu	37	10	134999981	134999981	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134999981C>A	ENST00000304613.3	+	6	1150	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T|KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1			60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)			GGGACGGGTTCCCTGTGCAGG	0.672000																								0							SO:0001583	missense			ENST00000304613.3	1	1	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	4.390	0.071987	0.08436	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17691	2.75;2.75;2.26	3.66	1.72	0.24424	.	1.960230	0.03115	U	0.163004	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	B;B	0.27732	0.187;0.001	B;B	0.24701	0.055;0.001	T	0.27502	-1.0072	10	0.52906	T	0.07	.	5.4819	0.16729	0.0:0.654:0.2237:0.1223	.	312;377	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	T	377;377;312	ENSP00000304437:P377T;ENSP00000357561:P377T;ENSP00000357560:P312T	ENSP00000304437:P377T	P	+	1	0	KNDC1	134849971	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.315000	0.19451	0.312000	0.23038	0.538000	0.68166	CCC		TCGA-IB-7651-01A-11D-2154-08	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1	41	149	0	28	1	7.658647e-01	6	6	0	28	2		0	0	0	0	0	2	1	1	40	148	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KNDC1	85442	broad.mit.edu	37	10	135015230	135015230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135015230C>A	ENST00000304613.3	+	17	3236	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y|KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1			60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)			CTGGCCAGGTCCAAAGGGGTC	0.701000																								0							SO:0001583	missense			ENST00000304613.3	1	1	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832504	0.32421	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.13657	2.57;2.57;2.57	5.06	1.82	0.25136	.	1.421330	0.04761	N	0.426279	T	0.19685	0.0473	L	0.29908	0.895	0.09310	N	1	P;P;P	0.45176	0.852;0.799;0.75	P;B;B	0.52598	0.703;0.263;0.171	T	0.30504	-0.9976	10	0.59425	D	0.04	-5.3684	7.7699	0.29001	0.0:0.6446:0.0:0.3554	.	1072;1007;1072	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	Y	1072;1074;1007	ENSP00000304437:S1072Y;ENSP00000357561:S1074Y;ENSP00000357560:S1007Y	ENSP00000304437:S1072Y	S	+	2	0	KNDC1	134865220	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.016000	0.13377	0.516000	0.28340	0.313000	0.20887	TCC		TCGA-IB-7651-01A-11D-2154-08	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	0	34	120	0	18	1	1.302414e-01	2	1	0	18	2		0	0	0	0	0	2	1	1	34	117	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KNDC1	85442	broad.mit.edu	37	10	135025297	135025297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135025297G>A	ENST00000304613.3	+	23	4192	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1			60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)			CAGGGAGGCCGAGGAGGATGC	0.672000																								0							SO:0001583	missense			ENST00000304613.3	1	1	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	8.388	0.839178	0.16891	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.16897	2.31;2.31	3.13	3.13	0.36017	Ras guanine nucleotide exchange factor, domain (1);	0.139666	0.46758	U	0.000269	T	0.08802	0.0218	L	0.27053	0.805	0.23747	N	0.996956	P	0.40107	0.703	B	0.30251	0.113	T	0.28713	-1.0035	10	0.19590	T	0.45	-27.3434	10.4476	0.44503	0.0:0.0:1.0:0.0	.	1391	Q76NI1	VKIND_HUMAN	K	1391;1393	ENSP00000304437:E1391K;ENSP00000357561:E1393K	ENSP00000304437:E1391K	E	+	1	0	KNDC1	134875287	0.997000	0.39634	0.436000	0.26797	0.085000	0.17905	3.034000	0.49751	1.713000	0.51359	0.282000	0.19409	GAG		TCGA-IB-7651-01A-11D-2154-08	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1	38	154	0	27	0	1.839309e-01	1	3	0	27	2		0	0	0	0	0	2	1	1	37	150	0	27	2								-20.000000	1	1	121402	4	33	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KNDC1	85442	broad.mit.edu	37	10	135032456	135032456	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135032456C>A	ENST00000304613.3	+	27	4820	c.4799C>A	c.(4798-4800)cCt>cAt	p.P1600H	KNDC1_ENST00000368572.2_Splice_Site_p.P1602H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1			60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)			AGGCAGTCCCCTGTGCGTCCC	0.597000																								0							SO:0001630	splice_region_variant			ENST00000304613.3	1	0	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854650	0.71719	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.28895	1.59;1.59	4.12	4.12	0.48240	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.056032	0.64402	D	0.000001	T	0.50531	0.1621	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51988	-0.8635	10	0.52906	T	0.07	-11.2166	14.2262	0.65860	0.0:1.0:0.0:0.0	.	1600	Q76NI1	VKIND_HUMAN	H	1600;1602	ENSP00000304437:P1600H;ENSP00000357561:P1602H	ENSP00000304437:P1600H	P	+	2	0	KNDC1	134882446	1.000000	0.71417	0.924000	0.36721	0.374000	0.29953	5.643000	0.67895	2.005000	0.58758	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	1	0	1	110	476	0	81	0	0	1	0	0	81	2		0	0	0	0	0	2	1	1	108	469	0	79	2								-3.340972	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VENTX	27287	broad.mit.edu	37	10	135051472	135051472	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051472C>T	ENST00000325980.9	+	1	565	c.54C>T	c.(52-54)ggC>ggT	p.G18G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox			14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			CCAGCTTTGGCTCCGTGGACT	0.726000																								0							SO:0001819	synonymous_variant			ENST00000325980.9	1	1	hg19	CCDS7675.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	1	0	0	19	71	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999949e-01	19	69	0	18	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
VENTX	27287	broad.mit.edu	37	10	135051528	135051528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051528C>A	ENST00000325980.9	+	1	621	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox			14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			ACCCCCAGGCCTGCCGACTTC	0.716000																								0							SO:0001583	missense			ENST00000325980.9	0	1	hg19	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714888	0.30413	.	.	ENSG00000151650	ENST00000325980	T	0.57595	0.39	1.9	1.9	0.25705	.	0.139797	0.48286	U	0.000196	T	0.38719	0.1051	N	0.24115	0.695	0.09310	N	1	B	0.28713	0.22	B	0.36959	0.237	T	0.38156	-0.9674	10	0.62326	D	0.03	.	7.3167	0.26505	0.0:1.0:0.0:0.0	.	37	O95231	VENTX_HUMAN	H	37	ENSP00000357556:P37H	ENSP00000357556:P37H	P	+	2	0	VENTX	134901518	0.001000	0.12720	0.048000	0.18961	0.058000	0.15608	0.204000	0.17335	1.387000	0.46486	0.393000	0.25936	CCT		TCGA-IB-7651-01A-11D-2154-08	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	1	0	0	16	55	0	10	0	5.664569e-02	0	2	0	10	2		0	0	0	0	0	2	1	9.999646e-01	16	54	0	10	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999946	0.990000	1	9.900000e-01	1
ADAM8	101	broad.mit.edu	37	10	135085191	135085191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135085191C>T	ENST00000445355.3	-	12	1175	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	ADAM8_ENST00000485491.2_Missense_Mutation_p.M336I|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.M375I	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8			17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			AGTCACTGAACATCCTGGGGA	0.682000																								0							SO:0001583	missense			ENST00000445355.3	0	1	hg19	CCDS31319.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	0	0	0	9	63	0	13	1	9.847186e-01	2	54	0	13	2		0	0	0	0	0	2	1	9.022683e-01	3	28	0	7	2								-16.430810	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.982498	0.990000	1	9.900000e-01	1
ADAM8	101	broad.mit.edu	37	10	135086319	135086319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135086319C>T	ENST00000445355.3	-	8	738	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8			17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			ACGTGATTCACCACCTCCAGC	0.672000																								0							SO:0001583	missense			ENST00000445355.3	1	1	hg19	CCDS31319.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	1	0	1	39	197	0	44	1	9.999991e-01	12	100	0	44	2		0	0	0	0	0	2	1	1	39	190	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TUBGCP2	10844	broad.mit.edu	37	10	135095825	135095825	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095825A>G	ENST00000252936.3	-	15	2350	c.2311T>C	c.(2311-2313)Tta>Cta	p.L771L	TUBGCP2_ENST00000368562.1_Silent_p.L364L|TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000368563.2_Silent_p.L771L|TUBGCP2_ENST00000543663.1_Silent_p.L799L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2			35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			TCGCCATCTAATTTCATGCTC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000252936.3	1	1	hg19	CCDS7676.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1	1	0	1	31	134	0	28	1	1	40	162	0	28	2		0	0	0	0	0	2	1	1	29	131	0	27	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TUBGCP2	10844	broad.mit.edu	37	10	135095846	135095846	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095846T>G	ENST00000252936.3	-	15	2329	c.2290A>C	c.(2290-2292)Aaa>Caa	p.K764Q	TUBGCP2_ENST00000368562.1_Splice_Site_p.K357Q|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634Q|TUBGCP2_ENST00000368563.2_Splice_Site_p.K764Q|TUBGCP2_ENST00000543663.1_Splice_Site_p.K792Q			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2			35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			TGTGTAAATTTCTAGGGGGGG	0.587000																								0							SO:0001630	splice_region_variant			ENST00000252936.3	1	0	hg19	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	T	9.274	1.046430	0.19748	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.32023	2.48;2.22;2.48;1.47;2.48	4.71	2.24	0.28232	.	0.115504	0.56097	D	0.000035	T	0.16385	0.0394	N	0.22421	0.69	0.28609	N	0.908782	B;B;B	0.30542	0.284;0.049;0.138	B;B;B	0.23574	0.047;0.021;0.032	T	0.20338	-1.0278	10	0.13108	T	0.6	-21.9772	10.6963	0.45901	0.0:0.0:0.306:0.694	.	792;792;764	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	Q	764;634;764;357;792	ENSP00000252936:K764Q;ENSP00000395666:K634Q;ENSP00000357551:K764Q;ENSP00000357550:K357Q;ENSP00000446093:K792Q	ENSP00000252936:K764Q	K	-	1	0	TUBGCP2	134945836	1.000000	0.71417	0.204000	0.23530	0.281000	0.26958	2.253000	0.43205	0.353000	0.24079	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1	1	0	1	28	139	0	29	1	9.999997e-01	17	114	0	29	2		0	0	0	0	0	2	1	1	27	136	0	29	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
TUBGCP2	10844	broad.mit.edu	37	10	135103451	135103451	+	Missense_Mutation	SNP	C	C	T	rs145657678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135103451C>T	ENST00000252936.3	-	8	1276	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.E413K|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2			35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			TTCCGCAGCTCGTGCTCCTCG	0.582000																								0							SO:0001583	missense			ENST00000252936.3	1	1	hg19	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000465	0.74818	0.0	5.81E-4	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.30448	2.44;2.21;2.44;1.53;2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.21508	0.67	0.80722	D	1	P;P;P	0.48407	0.744;0.604;0.91	B;B;P	0.48795	0.18;0.274;0.59	T	0.01108	-1.1449	10	0.23891	T	0.37	-39.9652	18.667	0.91493	0.0:1.0:0.0:0.0	.	441;441;413	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	K	413;283;413;6;441	ENSP00000252936:E413K;ENSP00000395666:E283K;ENSP00000357551:E413K;ENSP00000357550:E6K;ENSP00000446093:E441K	ENSP00000252936:E413K	E	-	1	0	TUBGCP2	134953441	1.000000	0.71417	0.998000	0.56505	0.297000	0.27493	5.789000	0.69029	2.832000	0.97577	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1	0	0	1	65	245	0	66	1	1	45	149	0	66	2		0	0	0	0	0	2	1	1	63	243	0	66	2								-2.803459	1	1	121412	45	48	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2E1	1571	broad.mit.edu	37	10	135345639	135345639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135345639G>A	ENST00000463117.2	+	6	771	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|AL161645.2_ENST00000599428.1_5'Flank			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1			30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCAGCCTTTCGACCCCACCTT	0.552000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of															0							SO:0001583	missense	Familial Cancer Database	incl.: Familial Head and Neck Cancer	ENST00000463117.2	1	1	hg19	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190522	0.38707	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.59	4.59	0.56863	.	0.081583	0.85682	D	0.000000	T	0.70098	0.3185	L	0.49256	1.55	0.36824	D	0.886529	B	0.14012	0.009	B	0.16722	0.016	T	0.71951	-0.4437	10	0.56958	D	0.05	.	15.7018	0.77547	0.0:0.0:1.0:0.0	.	167	P05181	CP2E1_HUMAN	N	167;167;80;30	ENSP00000440689:D167N;ENSP00000252945:D167N;ENSP00000412754:D80N;ENSP00000397299:D30N	ENSP00000252945:D167N	D	+	1	0	CYP2E1	135195629	0.995000	0.38212	0.963000	0.40424	0.010000	0.07245	2.312000	0.43726	2.837000	0.97791	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	1	0	0	37	525	0	133	0	7.653226e-02	1	6	0	133	2		0	0	0	0	0	2	1	1	36	516	0	133	2								-8.260598	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.790000	0.560000	1.000000	1.000000	0.806392	0.790000	0	6.700000e-01	9.700000e-01
BEND7	222389	broad.mit.edu	37	10	13542030	13542030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13542030G>T	ENST00000396900.2	-	3	195	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	BEND7_ENST00000378605.3_Missense_Mutation_p.L14M|BEND7_ENST00000341083.3_Missense_Mutation_p.L14M|BEND7_ENST00000396898.2_Missense_Mutation_p.L66M			Q8N7W2	BEND7_HUMAN	BEN domain containing 7			17					CTGTCGTTCAGCAATCTTCTC	0.433000																								0							SO:0001583	missense			ENST00000396900.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.34	3.602344	0.66445	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.65916	-0.18;-0.15;-0.09;-0.08	5.63	0.597	0.17504	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.63843	1.955	0.37854	D	0.929479	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.73972	-0.3814	10	0.87932	D	0	-11.9329	10.2521	0.43375	0.3253:0.0:0.6747:0.0	.	66;14	E5RFC0;Q8N7W2-3	.;.	M	66;14;66;14	ENSP00000380108:L66M;ENSP00000345773:L14M;ENSP00000380107:L66M;ENSP00000367868:L14M	ENSP00000345773:L14M	L	-	1	2	BEND7	13582036	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.854000	0.48325	0.084000	0.17077	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	BEND7-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	168	766	0	133	1	8.100114e-01	2	14	0	133	2		0	0	0	0	0	2	1	1	162	749	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPF18	8559	broad.mit.edu	37	10	13639487	13639487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13639487G>A	ENST00000378572.3	+	2	256	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18			17					AGCGTAGTGAGCTCGCCAAAA	0.279000																								0							SO:0001819	synonymous_variant			ENST00000378572.3	0	1	hg19	CCDS7100.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1	0	0	0	7	212	0	19	1	8.533194e-01	4	104	0	19	2		0	0	0	0	0	2	1	9.801481e-01	7	209	0	18	2								-3.609943	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.400000	0.170000	1.000000	0.370000	0.451531	0.400000	0	2.700000e-01	6.000000e-01
FRMD4A	55691	broad.mit.edu	37	10	13698655	13698655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13698655C>A	ENST00000357447.2	-	22	3302	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A			41					CCTTGCACATCTGGGGCATCC	0.667000																								0							SO:0001583	missense			ENST00000357447.2	0	1	hg19	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673393	0.29693	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83755	-1.76;-1.76;-1.76	4.78	4.78	0.61160	.	0.112219	0.64402	D	0.000010	T	0.65428	0.2690	N	0.08118	0	0.28951	N	0.890379	P	0.39576	0.679	B	0.34722	0.188	T	0.66728	-0.5850	10	0.52906	T	0.07	-17.5835	11.3625	0.49651	0.0:0.9164:0.0:0.0836	.	978	Q9P2Q2	FRM4A_HUMAN	H	963;978;978	ENSP00000351438:Q963H;ENSP00000350032:Q978H;ENSP00000367764:Q978H	ENSP00000350032:Q978H	Q	-	3	2	FRMD4A	13738661	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.042000	0.49815	2.196000	0.70406	0.205000	0.17691	CAG		TCGA-IB-7651-01A-11D-2154-08	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	1	0	0	8	101	0	17	0	5.861461e-01	0	25	0	17	2		0	0	0	0	0	2	1	9.890674e-01	8	98	0	17	2								-12.964200	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.900000	0.430000	1.000000	1.000000	0.845840	0.900000	1	6.300000e-01	1
FRMD4A	55691	broad.mit.edu	37	10	13699307	13699307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699307G>A	ENST00000357447.2	-	22	2650	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A			41					CATCTGCGCCGGGTAGTAGTG	0.692000																								0							SO:0001583	missense			ENST00000357447.2	1	1	hg19	CCDS7101.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.54	3.847717	0.71603	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.85773	-2.01;-2.03;-2.03	5.11	5.11	0.69529	.	0.047559	0.85682	D	0.000000	T	0.82213	0.4988	L	0.53249	1.67	0.80722	D	1	P	0.52316	0.952	B	0.39805	0.31	T	0.82301	-0.0525	10	0.31617	T	0.26	-25.4714	18.5337	0.91001	0.0:0.0:1.0:0.0	.	761	Q9P2Q2	FRM4A_HUMAN	L	746;761;761	ENSP00000351438:P746L;ENSP00000350032:P761L;ENSP00000367764:P761L	ENSP00000350032:P761L	P	-	2	0	FRMD4A	13739313	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.687000	0.98667	2.353000	0.79882	0.436000	0.28706	CCG		TCGA-IB-7651-01A-11D-2154-08	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	1	0	0	23	101	0	16	0	9.256610e-01	0	22	0	16	2		0	0	0	0	0	2	1	9.999994e-01	19	98	0	11	2								-20.000000	1	1	121280	1	21	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
FRMD4A	55691	broad.mit.edu	37	10	13699468	13699468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699468G>A	ENST00000357447.2	-	22	2489	c.2121C>T	c.(2119-2121)caC>caT	p.H707H	FRMD4A_ENST00000378503.1_Silent_p.H707H|FRMD4A_ENST00000358621.4_Silent_p.H692H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A			41					TGGAGCTCCGGTGCCTAAAGT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000357447.2	1	1	hg19	CCDS7101.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	0	0	6	197	0	36	0	2.008621e-01	0	24	0	36	2		0	0	0	0	0	2	1	9.640245e-01	6	194	0	35	2								-8.152199	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.380000	0.150000	1.000000	0.340000	0.428449	0.380000	0	2.500000e-01	5.800000e-01
FRMD4A	55691	broad.mit.edu	37	10	13743470	13743470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13743470A>G	ENST00000357447.2	-	14	1213	c.845T>C	c.(844-846)gTg>gCg	p.V282A	FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A			41					CCTCCTTGTCACTGAAGCCCT	0.512000																								0							SO:0001583	missense			ENST00000357447.2	1	1	hg19	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268444	0.59540	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.75;-1.76	5.34	5.34	0.76211	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	L	0.38531	1.155	0.80722	D	1	B;B;P	0.42123	0.106;0.234;0.771	B;B;P	0.44422	0.147;0.135;0.449	T	0.78753	-0.2081	10	0.19590	T	0.45	-18.9258	15.6255	0.76851	1.0:0.0:0.0:0.0	.	298;315;282	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	A	267;282;282;315;298	ENSP00000351438:V267A;ENSP00000350032:V282A;ENSP00000367764:V282A;ENSP00000264546:V315A;ENSP00000344237:V298A	ENSP00000264546:V315A	V	-	2	0	FRMD4A	13783476	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	9.339000	0.96797	2.144000	0.66660	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	0	1	79	391	0	102	0	9.646413e-01	0	28	0	102	2		0	0	0	0	0	2	1	1	78	385	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADARB2	105	broad.mit.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)			41		all_epithelial(10;0.059)|Colorectal(49;0.0815)			GTTCTTGGGCGCCACCGACCA	0.692000																								0							SO:0001583	missense			ENST00000381312.1	1	1	hg19	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.005300	0.54254	.	.	ENSG00000185736	ENST00000381312	T	0.23147	1.92	4.82	4.82	0.62117	Double-stranded RNA-binding (1);	0.464205	0.25919	N	0.027444	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.26969	0.075	T	0.09015	-1.0694	10	0.36615	T	0.2	-13.7546	17.9271	0.88987	0.0:0.0:1.0:0.0	.	125	Q9NS39	RED2_HUMAN	V	125	ENSP00000370713:A125V	ENSP00000370713:A125V	A	-	2	0	ADARB2	1395926	0.999000	0.42202	0.778000	0.31720	0.962000	0.63368	6.627000	0.74258	2.210000	0.71456	0.558000	0.71614	GCG		TCGA-IB-7651-01A-11D-2154-08	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	1	0	0	61	150	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	58	149	0	43	2								-6.219502	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM107B	83641	broad.mit.edu	37	10	14816459	14816459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14816459G>A	ENST00000181796.2	-	1	437	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B			25					CTCCTTCTGCGCTTGGGTGTC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000181796.2	1	1	hg19	CCDS7102.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	1	0	0	171	672	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1	170	663	0	138	2								-20.000000	1	0	121412	2	37	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUV39H2	79723	broad.mit.edu	37	10	14939493	14939493	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939493T>G	ENST00000354919.6	+	3	826	c.826T>G	c.(826-828)Ttt>Gtt	p.F276V	SUV39H2_ENST00000313519.5_Missense_Mutation_p.F216V|SUV39H2_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)			19					AAGAATGAGTTTTGTCATGGA	0.373000																								0							SO:0001583	missense			ENST00000354919.6	1	1	hg19	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331871	0.81801	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.91237	-1.74;-1.74;-2.81	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97246	0.9894	10	0.87932	D	0	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	276	Q9H5I1	SUV92_HUMAN	V	276;216;216	ENSP00000346997:F276V;ENSP00000319208:F216V;ENSP00000392201:F216V	ENSP00000319208:F216V	F	+	1	0	SUV39H2	14979499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	1	0	1	93	363	0	76	1	9.778777e-01	8	18	0	76	2		0	0	0	0	0	2	1	1	92	356	0	76	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUV39H2	79723	broad.mit.edu	37	10	14939500	14939500	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939500T>C	ENST00000354919.6	+	3	833	c.833T>C	c.(832-834)aTg>aCg	p.M278T	SUV39H2_ENST00000313519.5_Missense_Mutation_p.M218T|SUV39H2_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)			19					AGTTTTGTCATGGAATATGTT	0.373000																								0							SO:0001583	missense			ENST00000354919.6	1	1	hg19	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429912	0.43122	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	T;T;D	0.89552	-1.47;-1.47;-2.53	5.86	5.86	0.93980	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	N	0.12527	0.23	0.80722	D	1	B	0.32939	0.391	B	0.40534	0.332	T	0.82337	-0.0507	10	0.35671	T	0.21	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	278	Q9H5I1	SUV92_HUMAN	T	278;218;218	ENSP00000346997:M278T;ENSP00000319208:M218T;ENSP00000392201:M218T	ENSP00000319208:M218T	M	+	2	0	SUV39H2	14979506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	1	0	1	74	374	0	73	1	9.410429e-01	10	16	0	73	2		0	0	0	0	0	2	1	1	73	368	0	73	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPP38	10557	broad.mit.edu	37	10	15145661	15145661	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15145661C>T	ENST00000378197.4	+	3	862	c.348C>T	c.(346-348)ggC>ggT	p.G116G	RPP38_ENST00000378202.5_Silent_p.G116G|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit			8					TTGCCATTGGCGTTAACGAAG	0.483000													GBM(118;1591 1611 9649 34378 50720)											0							SO:0001819	synonymous_variant			ENST00000378197.4	1	1	hg19	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	C	5.111	0.206024	0.09704	.	.	ENSG00000152465	ENST00000441445	.	.	.	5.67	-10.1	0.00402	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50030	-0.8875	5	0.34782	T	0.22	-24.5283	2.9592	0.05887	0.1391:0.1061:0.2789:0.4759	.	.	.	.	T	64	.	ENSP00000408127:A64T	A	-	1	0	NMT2	15185667	0.001000	0.12720	0.000000	0.03702	0.630000	0.37929	-1.467000	0.02352	-1.940000	0.01043	-0.932000	0.02703	GCC		TCGA-IB-7651-01A-11D-2154-08	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	1	0	1	61	226	0	50	1	1	46	97	0	50	2		0	0	0	0	0	2	1	1	61	225	0	48	2								-3.872394	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NMT2	9397	broad.mit.edu	37	10	15161458	15161458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15161458G>A	ENST00000378165.4	-	9	1134	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2			21					ATTAATTCTCGAACTGATTTG	0.433000													Melanoma(117;1345 1645 4130 12688 30625)											0							SO:0001587	stop_gained			ENST00000378165.4	0	1	hg19	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	39	7.418072	0.98272	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.69	3.78	0.43462	.	0.410282	0.26684	N	0.023024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3702	12.722	0.57147	0.0:0.1261:0.7426:0.1313	.	.	.	.	X	352;339;383;164;339	.	.	R	-	1	2	NMT2	15201464	1.000000	0.71417	0.821000	0.32701	0.980000	0.70556	4.186000	0.58337	0.712000	0.32039	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	1	0	1	70	315	0	77	1	9.974610e-01	2	41	0	77	2		0	0	0	0	0	2	1	1	69	308	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NMT2	9397	broad.mit.edu	37	10	15174860	15174860	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15174860G>A	ENST00000378165.4	-	6	755	c.675C>T	c.(673-675)gtC>gtT	p.V225V	NMT2_ENST00000540259.1_Silent_p.V37V|NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000378150.1_Silent_p.V212V|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2			21					TTATGAACCCGACCAGTTTTT	0.458000													Melanoma(117;1345 1645 4130 12688 30625)											0							SO:0001819	synonymous_variant			ENST00000378165.4	1	1	hg19	CCDS7109.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	1	0	1	57	472	0	94	0	9.507599e-01	0	43	0	94	2		0	0	0	0	0	2	1	9.999980e-01	56	458	1	93	19								-3.075755	1	1	121412	1	31	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.980000	1.000000	1.000000	0.998486	0.990000	1	9.900000e-01	1
ITGA8	8516	broad.mit.edu	37	10	15573078	15573078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15573078G>A	ENST00000378076.3	-	28	3306	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8			96					AGTTTTGCTGGCTGATCTGTA	0.313000																								0							SO:0001583	missense			ENST00000378076.3	1	1	hg19	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411702	0.83340	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.51574	0.7	5.64	5.64	0.86602	.	0.047545	0.85682	D	0.000000	T	0.64360	0.2591	M	0.69823	2.125	0.51767	D	0.99993	D;D	0.65815	0.995;0.992	P;P	0.58130	0.833;0.685	T	0.59679	-0.7409	10	0.28530	T	0.3	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	970;985	F5H818;P53708	.;ITA8_HUMAN	S	985;970	ENSP00000367316:P985S	ENSP00000367316:P985S	P	-	1	0	ITGA8	15613084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.038000	0.70964	2.651000	0.90000	0.643000	0.83706	CCA		TCGA-IB-7651-01A-11D-2154-08	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	0	0	0	24	614	0	72	0	9.083048e-02	0	13	0	72	2		0	0	0	0	0	2	1	9.999996e-01	24	602	0	72	2								-3.796217	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.450000	0.290000	1.000000	0.440000	0.489048	0.450000	0	3.600000e-01	5.700000e-01
ITGA8	8516	broad.mit.edu	37	10	15697376	15697376	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15697376G>A	ENST00000378076.3	-	11	1331	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8			96					CATCTGATACGACAACGGTAT	0.318000																								0							SO:0001819	synonymous_variant			ENST00000378076.3	1	1	hg19	CCDS31155.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	1	0	1	71	358	0	75	0	7.686938e-01	0	16	0	75	2		0	0	0	0	1	2	1	1	71	349	0	74	2								-3.238665	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA8	8516	broad.mit.edu	37	10	15729956	15729956	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15729956G>T	ENST00000378076.3	-	3	778	c.425C>A	c.(424-426)gCt>gAt	p.A142D		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8			96					TCCTTTGTGAGCTTTCACTGT	0.428000																								0							SO:0001583	missense			ENST00000378076.3	1	1	hg19	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490544	0.84962	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.85629	-2.01	5.5	5.5	0.81552	.	0.047344	0.85682	D	0.000000	D	0.92080	0.7490	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.937	D	0.92576	0.6070	10	0.87932	D	0	.	19.3886	0.94570	0.0:0.0:1.0:0.0	.	142;142	F5H818;P53708	.;ITA8_HUMAN	D	142	ENSP00000367316:A142D	ENSP00000367316:A142D	A	-	2	0	ITGA8	15769962	1.000000	0.71417	0.838000	0.33150	0.712000	0.41017	9.476000	0.97823	2.583000	0.87209	0.491000	0.48974	GCT		TCGA-IB-7651-01A-11D-2154-08	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	1	0	1	112	452	0	93	0	6.742530e-01	0	11	0	93	2		0	0	0	0	0	2	1	1	110	446	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1QL3	389941	broad.mit.edu	37	10	16556570	16556570	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556570T>C	ENST00000298943.3	-	2	1664	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3			13					GCTGTATTTGTTGTTGTTTCC	0.388000																								0							SO:0001583	missense			ENST00000298943.3	1	1	hg19	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753605	0.69648	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.74737	-0.87	5.68	5.68	0.88126	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	L	0.50333	1.59	0.58432	D	0.999995	P	0.45569	0.861	P	0.49953	0.627	T	0.76307	-0.3007	10	0.38643	T	0.18	.	15.9265	0.79621	0.0:0.0:0.0:1.0	.	242	Q5VWW1	C1QL3_HUMAN	S	242;219	ENSP00000298943:N242S	ENSP00000298943:N242S	N	-	2	0	C1QL3	16596576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.159000	0.67721	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	1	0	0	25	501	0	94	0	1.170328e-01	1	11	0	94	2		0	0	0	0	0	2	1	9.999998e-01	25	492	0	94	2								-5.128058	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.570000	0.370000	1.000000	0.560000	0.601083	0.570000	0	4.600000e-01	7.200000e-01
C1QL3	389941	broad.mit.edu	37	10	16556588	16556588	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556588G>T	ENST00000298943.3	-	2	1646	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3			13					TCCTCCATGGGCTTTCCCGCC	0.398000																								0							SO:0001583	missense			ENST00000298943.3	1	1	hg19	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012318	0.54468	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.75589	-0.95	5.71	4.81	0.61882	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	L	0.46614	1.455	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.75858	-0.3169	10	0.15952	T	0.53	.	14.6519	0.68803	0.0698:0.0:0.9302:0.0	.	236	Q5VWW1	C1QL3_HUMAN	D	236;213	ENSP00000298943:A236D	ENSP00000298943:A236D	A	-	2	0	C1QL3	16596594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.428000	0.47296	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	1	0	1	85	396	0	95	0	6.532874e-01	0	12	0	95	2		0	0	0	0	0	2	1	1	84	391	0	95	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1QL3	389941	broad.mit.edu	37	10	16562739	16562739	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16562739C>T	ENST00000298943.3	-	1	1265	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3			13					CGCGTTCAggccgggcgcccc	0.781000																								0							SO:0001583	missense			ENST00000298943.3	0	1	hg19	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830663	0.71258	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.99353	-5.77	3.52	2.59	0.31030	.	0.211440	0.37906	N	0.001892	D	0.99354	0.9773	M	0.90595	3.13	0.51233	D	0.999918	D	0.76494	0.999	D	0.67103	0.949	D	0.99136	1.0854	10	0.59425	D	0.04	.	12.1876	0.54247	0.1719:0.8281:0.0:0.0	.	109	Q5VWW1	C1QL3_HUMAN	D	109;86	ENSP00000298943:G109D	ENSP00000298943:G109D	G	-	2	0	C1QL3	16602745	0.998000	0.40836	0.999000	0.59377	0.905000	0.53344	2.378000	0.44309	0.803000	0.34113	0.557000	0.71058	GGC		TCGA-IB-7651-01A-11D-2154-08	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	0	0	0	13	158	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.994934e-01	13	152	0	21	2								-18.454750	1	1	115792	2	31	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.920000	0.520000	1.000000	1.000000	0.873177	0.920000	1	6.900000e-01	1
CUBN	8029	broad.mit.edu	37	10	16877056	16877056	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877056A>C	ENST00000377833.4	-	64	10384	c.10319T>G	c.(10318-10320)cTt>cGt	p.L3440R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCGATGCCAAGTGAATGAAA	0.418000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305128	0.40795	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.24538	1.85	4.84	4.84	0.62591	CUB (5);	0.000000	0.44097	D	0.000491	T	0.36580	0.0972	M	0.80422	2.495	0.80722	D	1	B	0.25169	0.119	B	0.30855	0.121	T	0.36187	-0.9758	10	0.72032	D	0.01	.	14.5848	0.68317	1.0:0.0:0.0:0.0	.	3440	O60494	CUBN_HUMAN	R	3440;281	ENSP00000367064:L3440R	ENSP00000367064:L3440R	L	-	2	0	CUBN	16917062	1.000000	0.71417	0.140000	0.22221	0.373000	0.29922	8.687000	0.91255	2.028000	0.59812	0.459000	0.35465	CTT		TCGA-IB-7651-01A-11D-2154-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	62	305	0	73	0	7.824778e-02	1	2	0	73	2		0	0	0	0	0	2	1	1	62	298	0	73	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUBN	8029	broad.mit.edu	37	10	16877137	16877137	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877137T>G	ENST00000377833.4	-	64	10303	c.10238A>C	c.(10237-10239)gAt>gCt	p.D3413A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCGTAGTTATCTGGCCATCC	0.438000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	5.530	0.282625	0.10458	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.35048	1.33	4.84	-0.549	0.11829	CUB (5);	0.695101	0.12395	N	0.472617	T	0.21550	0.0519	N	0.21282	0.65	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.18999	-1.0319	10	0.56958	D	0.05	.	6.1158	0.20126	0.0:0.3293:0.1301:0.5406	.	3413	O60494	CUBN_HUMAN	A	3413;254	ENSP00000367064:D3413A	ENSP00000367064:D3413A	D	-	2	0	CUBN	16917143	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.440000	0.21592	-0.251000	0.09542	-0.361000	0.07541	GAT		TCGA-IB-7651-01A-11D-2154-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	76	344	0	76	0	3.364593e-02	0	2	0	76	2		0	0	0	0	0	2	1	1	72	332	0	74	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUBN	8029	broad.mit.edu	37	10	16878269	16878269	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16878269C>A	ENST00000377833.4	-	63	10210	c.10145G>T	c.(10144-10146)aGa>aTa	p.R3382I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTAGAGTTTCTGTTTACAAC	0.378000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419323	0.25552	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.34472	1.36	4.89	-2.12	0.07165	CUB (4);	0.986847	0.08229	N	0.977876	T	0.19446	0.0467	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23261	-1.0193	10	0.29301	T	0.29	.	1.7924	0.03054	0.3558:0.1684:0.3245:0.1514	.	3382	O60494	CUBN_HUMAN	I	3382;223	ENSP00000367064:R3382I	ENSP00000367064:R3382I	R	-	2	0	CUBN	16918275	0.000000	0.05858	0.001000	0.08648	0.302000	0.27658	-2.237000	0.01200	-0.517000	0.06461	-0.311000	0.09066	AGA		TCGA-IB-7651-01A-11D-2154-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	59	237	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	1	57	233	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUBN	8029	broad.mit.edu	37	10	16946075	16946075	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16946075G>T	ENST00000377833.4	-	51	8017	c.7952C>A	c.(7951-7953)cCt>cAt	p.P2651H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCTTTGAAGGACCACAAAG	0.403000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320521	0.23994	.	.	ENSG00000107611	ENST00000377833	T	0.28255	1.62	5.39	3.39	0.38822	CUB (5);	0.858271	0.09772	N	0.757850	T	0.14442	0.0349	N	0.08118	0	0.24998	N	0.991489	B	0.02656	0.0	B	0.08055	0.003	T	0.23511	-1.0186	10	0.38643	T	0.18	.	2.7814	0.05362	0.1021:0.1053:0.382:0.4106	.	2651	O60494	CUBN_HUMAN	H	2651	ENSP00000367064:P2651H	ENSP00000367064:P2651H	P	-	2	0	CUBN	16986081	0.968000	0.33430	0.001000	0.08648	0.177000	0.22998	2.237000	0.43061	0.693000	0.31634	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	72	293	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	1	72	291	0	82	2								-3.081598	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUBN	8029	broad.mit.edu	37	10	16949516	16949516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16949516C>T	ENST00000377833.4	-	49	7761	c.7696G>A	c.(7696-7698)Gaa>Aaa	p.E2566K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCATCTTCACTGGAGGTA	0.458000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	35	5.467395	0.96257	.	.	ENSG00000107611	ENST00000377833	T	0.77098	-1.07	5.23	5.23	0.72850	CUB (2);	0.279331	0.25540	N	0.029974	D	0.83133	0.5188	L	0.45744	1.44	0.80722	D	1	D	0.63880	0.993	P	0.59115	0.852	T	0.82910	-0.0223	10	0.46703	T	0.11	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	2566	O60494	CUBN_HUMAN	K	2566	ENSP00000367064:E2566K	ENSP00000367064:E2566K	E	-	1	0	CUBN	16989522	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.287000	0.65645	2.603000	0.88011	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	51	238	0	66	0	3.243421e-02	0	2	0	66	2		0	0	0	0	0	2	1	1	51	233	0	66	2								-20.000000	1	1	121412	1	26	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUBN	8029	broad.mit.edu	37	10	17113893	17113893	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113893A>G	ENST00000377833.4	-	18	2444	c.2379T>C	c.(2377-2379)agT>agC	p.S793S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATCCAGACACTATTAGTAA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000377833.4	1	1	hg19	CCDS7113.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	36	152	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	36	150	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUBN	8029	broad.mit.edu	37	10	17113900	17113900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113900G>A	ENST00000377833.4	-	18	2437	c.2372C>T	c.(2371-2373)aCt>aTt	p.T791I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACACTATTAGTAATGGATTT	0.333000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049988	0.55218	.	.	ENSG00000107611	ENST00000377833	T	0.30981	1.51	5.31	4.39	0.52855	CUB (5);	1.052280	0.07594	N	0.922464	T	0.45196	0.1330	L	0.54323	1.7	0.80722	D	1	P	0.48016	0.904	P	0.50136	0.632	T	0.19451	-1.0305	10	0.66056	D	0.02	.	15.1678	0.72842	0.0:0.3347:0.6653:0.0	.	791	O60494	CUBN_HUMAN	I	791	ENSP00000367064:T791I	ENSP00000367064:T791I	T	-	2	0	CUBN	17153906	1.000000	0.71417	0.571000	0.28486	0.745000	0.42441	5.152000	0.64882	1.224000	0.43551	0.454000	0.30748	ACT		TCGA-IB-7651-01A-11D-2154-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	19	161	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	9.999925e-01	19	159	0	54	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.790000	1.000000	1.000000	0.983270	0.990000	1	9.900000e-01	1
CUBN	8029	broad.mit.edu	37	10	17171244	17171244	+	Missense_Mutation	SNP	C	C	T	rs149358798	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17171244C>T	ENST00000377833.4	-	2	193	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTAGCCATTCGAGGCCTATA	0.348000																								0							SO:0001583	missense			ENST00000377833.4	1	1	hg19	CCDS7113.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	26.1	4.702199	0.88924	0.002044	0.0	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.91237	-1.26;-2.81	5.23	5.23	0.72850	.	0.000000	0.37261	N	0.002177	D	0.94026	0.8086	M	0.66939	2.045	0.43545	D	0.995849	D	0.89917	1.0	D	0.63957	0.92	D	0.92953	0.6382	10	0.36615	T	0.2	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	43	O60494	CUBN_HUMAN	Q	43	ENSP00000367064:R43Q;ENSP00000367054:R43Q	ENSP00000367054:R43Q	R	-	2	0	CUBN	17211250	0.999000	0.42202	0.871000	0.34182	0.916000	0.54674	5.259000	0.65485	2.598000	0.87819	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	0	0	11	277	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	9.983251e-01	11	274	0	61	2								-3.075755	1	1	121404	21	45	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.470000	0.240000	1.000000	0.440000	0.510553	0.470000	0	3.400000e-01	6.500000e-01
TRDMT1	1787	broad.mit.edu	37	10	17210891	17210891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17210891C>A	ENST00000377799.3	-	3	247	c.200G>T	c.(199-201)aGa>aTa	p.R67I	TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1			18				Pentamidine(DB00738)	AAAAGATAATCTGTCAAACTC	0.378000																								0							SO:0001583	missense			ENST00000377799.3	1	1	hg19	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.439433|2.439433	0.43326|0.43326	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000313936|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	.|D;D;D;D	.|0.84516	.|-1.86;-1.86;-1.86;-1.86	5.95|5.95	1.06|1.06	0.20224|0.20224	.|.	.|0.530170	.|0.22507	.|N	.|0.059146	T|T	0.76751|0.76751	0.4031|0.4031	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	0.999994|0.999994	.|P;B;B	.|0.43519	.|0.809;0.23;0.051	.|B;B;B	.|0.41332	.|0.354;0.06;0.033	T|T	0.68337|0.68337	-0.5435|-0.5435	5|10	.|0.62326	.|D	.|0.03	-8.0424|-8.0424	6.9518|6.9518	0.24550|0.24550	0.0:0.465:0.1221:0.4129|0.0:0.465:0.1221:0.4129	.|.	.|67;67;67	.|O14717-3;O14717-2;O14717	.|.;.;TRDMT_HUMAN	H|I	46|67;67;67;49	.|ENSP00000367030:R67I;ENSP00000409354:R67I;ENSP00000324328:R67I;ENSP00000431476:R49I	.|ENSP00000324328:R67I	Q|R	-|-	3|2	2|0	TRDMT1|TRDMT1	17250897|17250897	0.865000|0.865000	0.29922|0.29922	0.979000|0.979000	0.43373|0.43373	0.948000|0.948000	0.59901|0.59901	0.359000|0.359000	0.20233|0.20233	0.281000|0.281000	0.22233|0.22233	0.650000|0.650000	0.86243|0.86243	CAG|AGA		TCGA-IB-7651-01A-11D-2154-08	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	1	0	1	17	99	0	26	0	3.499171e-01	0	8	0	26	2		0	0	0	0	0	2	1	9.999703e-01	17	95	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998648	0.990000	1	9.900000e-01	1
VIM	7431	broad.mit.edu	37	10	17276772	17276772	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17276772A>G	ENST00000224237.5	+	5	1108	c.963A>G	c.(961-963)agA>agG	p.R321R	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.R321R			P08670	VIME_HUMAN	vimentin			38					AGTACCGGAGACAGGTGCAGT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000224237.5	1	1	hg19	CCDS7120.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	1	0	0	51	281	0	93	1	1	335	6444	0	93	2		0	0	0	0	0	2	1	1	51	277	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
VIM	7431	broad.mit.edu	37	10	17277377	17277377	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17277377C>A	ENST00000224237.5	+	6	1363	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.G406G			P08670	VIME_HUMAN	vimentin			38					TGCTGGAAGGCGAGGAGAGCA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000224237.5	1	1	hg19	CCDS7120.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	1	0	0	58	264	0	69	1	1	341	6950	0	69	2		0	0	0	0	0	2	1	1	56	261	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPLA	9200	broad.mit.edu	37	10	17636234	17636234	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636234G>T	ENST00000361271.3	-	6	791	c.754C>A	c.(754-756)Ctt>Att	p.L252I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A			13					GTTATAAGAAGAAAATAATAG	0.289000																								0							SO:0001583	missense			ENST00000361271.3	1	1	hg19	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892142	0.91889	.	.	ENSG00000165996	ENST00000361271	T	0.36340	1.26	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.72353	2.195	0.80722	D	1	P	0.46859	0.885	P	0.55222	0.771	T	0.55667	-0.8105	10	0.59425	D	0.04	-21.2146	20.2406	0.98372	0.0:0.0:1.0:0.0	.	252	B0YJ81	HACD1_HUMAN	I	252	ENSP00000355308:L252I	ENSP00000355308:L252I	L	-	1	0	PTPLA	17676240	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.846000	0.99502	2.857000	0.98124	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	1	0	1	34	233	0	85	0	3.305573e-01	1	8	0	85	2		0	0	0	0	0	2	1	1	33	232	0	84	2								-15.546600	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999496	0.990000	1	9.900000e-01	1
STAM	8027	broad.mit.edu	37	10	17730057	17730057	+	Missense_Mutation	SNP	C	C	T	rs142836471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17730057C>T	ENST00000377524.3	+	5	544	c.329C>T	c.(328-330)gCt>gTt	p.A110V	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1			26					AAATTAAAGGCTCTTATGGTT	0.323000																								0							SO:0001583	missense			ENST00000377524.3	1	1	hg19	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474386	0.84640	0.0	1.16E-4	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500	T	0.23147	1.92	5.83	5.83	0.93111	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.102265	0.64402	D	0.000002	T	0.34978	0.0916	L	0.41710	1.295	0.80722	D	1	D	0.59357	0.985	P	0.51297	0.665	T	0.00708	-1.1600	10	0.34782	T	0.22	-23.4298	20.1133	0.97917	0.0:1.0:0.0:0.0	.	110	Q92783	STAM1_HUMAN	V	110;60;13	ENSP00000366746:A110V	ENSP00000366721:A13V	A	+	2	0	STAM	17770063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.762000	0.94881	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	1	0	1	88	433	0	114	1	9.999974e-01	20	72	0	114	2		0	0	0	0	0	2	1	1	87	427	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAM	8027	broad.mit.edu	37	10	17747711	17747711	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17747711A>G	ENST00000377524.3	+	12	1395	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	STAM_ENST00000540523.1_Missense_Mutation_p.M283V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1			26					GCCATATTATATGCAGTCATC	0.393000																								0							SO:0001583	missense			ENST00000377524.3	1	1	hg19	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	A	4.536	0.099491	0.08681	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.38560	1.44;1.13	5.73	0.684	0.18003	.	0.190228	0.64402	N	0.000004	T	0.31136	0.0787	L	0.56769	1.78	0.43593	D	0.995943	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08764	-1.0706	10	0.17832	T	0.49	-0.7655	5.9925	0.19474	0.664:0.1263:0.2097:0.0	.	283;394	B4DZT2;Q92783	.;STAM1_HUMAN	V	394;283	ENSP00000366746:M394V;ENSP00000438073:M283V	ENSP00000366746:M394V	M	+	1	0	STAM	17787717	0.988000	0.35896	0.958000	0.39756	0.898000	0.52572	2.453000	0.44970	-0.115000	0.11915	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	1	0	1	117	576	0	89	1	9.999969e-01	30	59	0	89	2		0	0	0	0	0	2	1	1	110	558	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAM	8027	broad.mit.edu	37	10	17750861	17750861	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17750861G>A	ENST00000377524.3	+	13	1511	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	STAM_ENST00000540523.1_Silent_p.P321P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1			26					GTCTTCCCCCGGAGCAGCTGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000377524.3	1	1	hg19	CCDS7122.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	0	0	1	107	442	1	112	1	9.999991e-01	32	99	1	112	6		0	0	0	0	0	2	1	1	106	431	1	111	17								-2.799393	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC39A12	221074	broad.mit.edu	37	10	18250690	18250690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18250690C>T	ENST00000377369.2	+	3	715	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L|SLC39A12_ENST00000377371.3_Silent_p.L148L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12			60					ACACAGCCTACTGAGCCTCAG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000377369.2	1	1	hg19	CCDS44362.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	64	295	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	63	289	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC39A12	221074	broad.mit.edu	37	10	18284597	18284597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18284597G>A	ENST00000377369.2	+	10	1819	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D515N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12			60					AAGCCCAGAAGATTCACAGGC	0.353000																								0							SO:0001583	missense			ENST00000377369.2	1	1	hg19	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112274	0.77210	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.65	4.65	0.58169	.	1.707740	0.03073	N	0.157493	T	0.66973	0.2844	L	0.58969	1.84	0.51482	D	0.999928	D;B;D	0.61697	0.99;0.018;0.99	P;B;P	0.62014	0.897;0.1;0.897	T	0.50964	-0.8765	10	0.33141	T	0.24	-13.3985	14.7473	0.69499	0.0:0.0:1.0:0.0	.	515;516;479	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	N	516;479;515;382;436	ENSP00000366586:D516N;ENSP00000366591:D479N;ENSP00000366588:D515N;ENSP00000440445:D382N	ENSP00000366586:D516N	D	+	1	0	SLC39A12	18324603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.362000	0.66098	2.579000	0.87056	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	51	221	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	51	217	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNB2	783	broad.mit.edu	37	10	18807857	18807857	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18807857A>C	ENST00000324631.7	+	9	964	c.904A>C	c.(904-906)Aaa>Caa	p.K302Q	CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q|CACNB2_ENST00000396576.2_Missense_Mutation_p.K247Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit			31				Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TATGATGCAAAAAGCGCTGTT	0.338000																								0							SO:0001583	missense			ENST00000324631.7	1	1	hg19	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694579	0.88830	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.3	5.3	0.74995	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999;0.999;1.0;0.998;0.999;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.996;0.999;0.995;0.999;0.991;0.999;0.998;0.991;0.998;0.999	D	0.94080	0.7343	10	0.87932	D	0	-22.4243	14.3496	0.66691	1.0:0.0:0.0:0.0	.	216;216;248;274;254;224;248;258;209;250;274;264;278;302	B7Z1U5;B7Z2U3;Q5QJ99;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Q	302;278;274;250;247;209;248;254	ENSP00000320025:K302Q;ENSP00000344474:K278Q;ENSP00000282343:K274Q;ENSP00000366548:K250Q;ENSP00000379821:K247Q;ENSP00000366536:K209Q;ENSP00000366546:K248Q;ENSP00000366532:K254Q	ENSP00000282343:K274Q	K	+	1	0	CACNB2	18847863	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.838000	0.92115	2.137000	0.66172	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	1	0	1	107	510	0	110	0	0	0	1	0	110	2		0	0	0	0	0	2	1	1	107	503	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNB2	783	broad.mit.edu	37	10	18823122	18823122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18823122C>A	ENST00000324631.7	+	11	1232	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H|CACNB2_ENST00000396576.2_Missense_Mutation_p.P336H|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|RP11-499P20.2_ENST00000425669.1_RNA|RP11-383B4.4_ENST00000433526.1_RNA|CACNB2_ENST00000377328.1_Intron	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit			31				Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTTGGCCCCTATTATAGTA	0.368000																								0							SO:0001583	missense			ENST00000324631.7	1	1	hg19	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972435	0.92919	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.54	5.54	0.83059	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.84208	0.0454	10	0.87932	D	0	-15.9416	19.4818	0.95013	0.0:1.0:0.0:0.0	.	305;363;343;313;337;347;298;339;363;353;367;391	B7Z1U5;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	391;367;363;339;336;298;337;343	ENSP00000320025:P391H;ENSP00000344474:P367H;ENSP00000282343:P363H;ENSP00000366548:P339H;ENSP00000379821:P336H;ENSP00000366536:P298H;ENSP00000366546:P337H;ENSP00000366532:P343H	ENSP00000282343:P363H	P	+	2	0	CACNB2	18863128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.590000	0.87494	0.557000	0.71058	CCT		TCGA-IB-7651-01A-11D-2154-08	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	1	0	1	107	583	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	104	571	0	125	2								-2.967197	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNB2	783	broad.mit.edu	37	10	18828262	18828262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828262G>A	ENST00000324631.7	+	14	1652	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R476H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	p.R507H(1)|p.R476H(1)|p.R477H(1)		31				Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCAGCACCGCTCTTCCTCC	0.557000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000324631.7	1	1	hg19	CCDS7125.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.43	3.119971	0.56613	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83914	-1.73;1.83;-1.78;-1.73;1.83;-1.73;-1.73;-1.72;-1.73	5.84	5.84	0.93424	.	0.547984	0.18806	N	0.130660	D	0.85120	0.5624	N	0.14661	0.345	0.58432	D	0.999992	D;D;D;D;B;D;D;D;D;D;D;D;D	0.89917	0.971;1.0;1.0;0.992;0.091;0.995;0.981;0.999;1.0;1.0;0.983;1.0;1.0	P;D;D;P;B;P;B;P;D;D;P;D;D	0.74674	0.474;0.964;0.955;0.584;0.016;0.763;0.443;0.891;0.935;0.984;0.674;0.984;0.964	D	0.85703	0.1314	10	0.45353	T	0.12	-10.7463	20.1511	0.98086	0.0:0.0:1.0:0.0	.	445;503;281;483;453;477;487;438;479;503;493;507;531	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	531;507;281;503;479;476;438;477;483	ENSP00000320025:R531H;ENSP00000344474:R507H;ENSP00000366545:R281H;ENSP00000282343:R503H;ENSP00000366548:R479H;ENSP00000379821:R476H;ENSP00000366536:R438H;ENSP00000366546:R477H;ENSP00000366532:R483H	ENSP00000282343:R503H	R	+	2	0	CACNB2	18868268	1.000000	0.71417	0.826000	0.32828	0.985000	0.73830	8.500000	0.90498	2.778000	0.95560	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	1	0	1	53	253	0	72	0	1.444282e-01	0	4	0	72	2		0	0	0	0	0	2	1	1	50	249	0	72	2								-3.077691	1	1	121412	9	43	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNB2	783	broad.mit.edu	37	10	18828568	18828568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828568G>A	ENST00000324631.7	+	14	1958	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R578H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit			31				Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527000																								0							SO:0001583	missense			ENST00000324631.7	1	1	hg19	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743626	0.69418	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.85;1.95;-2.07;-1.84;1.95;-1.96;-1.98;-1.96;-1.96	5.7	5.7	0.88788	.	0.402357	0.29900	N	0.010916	D	0.88209	0.6375	L	0.50333	1.59	0.58432	D	0.999999	P;P;D;P;D;P;D;P;D;P;D;D;D	0.89917	0.63;0.924;1.0;0.924;0.987;0.955;0.969;0.746;0.974;0.955;0.993;0.992;0.969	B;P;P;B;P;P;P;B;P;P;P;P;P	0.62560	0.217;0.468;0.904;0.344;0.668;0.669;0.468;0.388;0.55;0.669;0.681;0.822;0.468	D	0.88470	0.3061	10	0.87932	D	0	-14.0587	10.8677	0.46864	0.1137:0.0:0.8863:0.0	.	547;605;383;585;555;579;589;540;581;605;595;609;633	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	633;609;383;605;581;578;540;579;585	ENSP00000320025:R633H;ENSP00000344474:R609H;ENSP00000366545:R383H;ENSP00000282343:R605H;ENSP00000366548:R581H;ENSP00000379821:R578H;ENSP00000366536:R540H;ENSP00000366546:R579H;ENSP00000366532:R585H	ENSP00000282343:R605H	R	+	2	0	CACNB2	18868574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.756000	0.55205	2.703000	0.92315	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	1	0	1	69	378	0	83	0	1.765389e-01	0	5	0	83	2		0	0	0	0	0	2	1	1	69	366	0	83	2								-20.000000	1	1	121412	4	35	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXDC2	84898	broad.mit.edu	37	10	20290821	20290821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20290821C>T	ENST00000377252.4	+	2	1071	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2			34					GCGGTAGACACGAACCGAGCA	0.537000																								0							SO:0001583	missense			ENST00000377252.4	1	1	hg19	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249061	0.59103	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.31769	1.79;1.48	5.9	5.9	0.94986	.	0.193759	0.56097	D	0.000039	T	0.42607	0.1210	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.984	P;P	0.53490	0.727;0.538	T	0.20174	-1.0283	10	0.87932	D	0	.	18.4573	0.90725	0.0:1.0:0.0:0.0	.	77;77	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	M	77;77;63	ENSP00000366460:T77M;ENSP00000366450:T77M	ENSP00000366450:T77M	T	+	2	0	PLXDC2	20330827	0.992000	0.36948	0.751000	0.31187	0.018000	0.09664	3.495000	0.53280	2.808000	0.96608	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	1	0	1	39	160	0	36	0	1	0	297	0	36	2		0	0	0	0	0	2	1	1	38	158	0	36	2								-20.000000	1	1	121404	3	33	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXDC2	84898	broad.mit.edu	37	10	20432253	20432253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20432253C>T	ENST00000377252.4	+	5	1412	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2			34					AGTCGTACATCGAATGCTAAC	0.333000																								0							SO:0001587	stop_gained			ENST00000377252.4	0	1	hg19	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	46	12.108986	0.99637	2.27E-4	0.0	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	.	.	.	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1463	0.81575	0.1346:0.8654:0.0:0.0	.	.	.	.	X	191;142;54;177	.	ENSP00000366446:R54X	R	+	1	2	PLXDC2	20472259	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.678000	0.61641	1.425000	0.47237	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	1	0	1	86	436	0	114	0	1	0	214	0	114	2		0	0	0	0	0	2	1	1	83	431	0	114	2								-20.000000	1	1	121412	1	37	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEBL	10529	broad.mit.edu	37	10	21178809	21178809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21178809T>G	ENST00000377122.4	-	3	619	c.223A>C	c.(223-225)Aac>Cac	p.N75H	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette			70					TTTACATGGTTTAGCATAGGA	0.313000																								0							SO:0001583	missense			ENST00000377122.4	1	1	hg19	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254167	0.80135	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.32272	1.46;1.46;1.46	6.17	6.17	0.99709	.	0.317378	0.35067	N	0.003462	T	0.40448	0.1117	L	0.44542	1.39	0.80722	D	1	D	0.53151	0.958	P	0.53146	0.719	T	0.08868	-1.0701	10	0.44086	T	0.13	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	75	O76041	NEBL_HUMAN	H	75;75;59	ENSP00000366326:N75H;ENSP00000366323:N75H;ENSP00000396512:N59H	ENSP00000366323:N75H	N	-	1	0	NEBL	21218815	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.617000	0.54181	2.371000	0.80710	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	1	0	1	58	274	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	58	271	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEBL	10529	broad.mit.edu	37	10	21309118	21309118	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21309118C>T	ENST00000417816.2	-	3	530	c.177G>A	c.(175-177)aaG>aaA	p.K59K	NEBL_ENST00000377159.4_Silent_p.K25K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette			70					TGAAGGACTGCTTCGGGTAGT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000417816.2	1	1	hg19	CCDS7133.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	1	0	1	80	293	0	74	1	1	37	58	0	74	2		0	0	0	0	0	2	1	1	79	285	0	74	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT10	8028	broad.mit.edu	37	10	21962743	21962743	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21962743T>C	ENST00000307729.7	+	11	1694	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S506P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10			6					ATCTGTAGCATCAGCTGCAGG	0.448000			T	MLL, PICALM, CDK6	AL										Dom	yes		10	10p12	8028	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)		L	0							SO:0001583	missense			ENST00000307729.7	1	1	hg19	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495950	0.64186	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.16597	2.33;2.44;2.45;2.44	5.62	5.62	0.85841	.	0.494770	0.22510	N	0.059111	T	0.31420	0.0796	L	0.51422	1.61	0.80722	D	1	P;D;D;D	0.65815	0.867;0.966;0.995;0.973	P;P;P;P	0.56278	0.623;0.598;0.795;0.674	T	0.01242	-1.1408	10	0.51188	T	0.08	.	15.823	0.78673	0.0:0.0:0.0:1.0	.	352;506;506;506	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	506;506;506;352;506;149;148	ENSP00000366272:S506P;ENSP00000401406:S506P;ENSP00000307411:S506P;ENSP00000366258:S506P	ENSP00000307411:S506P	S	+	1	0	MLLT10	22002749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.149000	0.67028	0.477000	0.44152	TCA		TCGA-IB-7651-01A-11D-2154-08	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1	1	0	1	93	285	0	98	1	9.986039e-01	7	26	0	98	2		0	0	0	0	0	2	1	1	93	280	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT10	8028	broad.mit.edu	37	10	22019972	22019972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22019972C>T	ENST00000307729.7	+	17	2385	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I|MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I|MLLT10_ENST00000377072.3_Missense_Mutation_p.T752I			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10			6					GAACAGGGTACTCCTAGTGAC	0.433000			T	MLL, PICALM, CDK6	AL										Dom	yes		10	10p12	8028	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)		L	0							SO:0001583	missense			ENST00000307729.7	1	1	hg19	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595286	0.86953	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.3	5.3	0.74995	.	0.150213	0.64402	D	0.000012	T	0.26011	0.0634	L	0.41236	1.265	0.50813	D	0.999893	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;P;D	0.83275	0.996;0.991;0.795;0.991	T	0.00899	-1.1522	10	0.30078	T	0.28	.	18.9445	0.92616	0.0:1.0:0.0:0.0	.	431;736;736;752	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	I	752;736;736;571;736	ENSP00000366272:T752I;ENSP00000401406:T736I;ENSP00000307411:T736I;ENSP00000366258:T736I	ENSP00000307411:T736I	T	+	2	0	MLLT10	22059978	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.020000	0.76419	2.466000	0.83321	0.561000	0.74099	ACT		TCGA-IB-7651-01A-11D-2154-08	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1	1	0	1	102	580	0	124	1	9.845017e-01	3	36	0	124	2		0	0	0	0	0	2	1	1	99	568	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT10	8028	broad.mit.edu	37	10	22022979	22022979	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22022979T>C	ENST00000307729.7	+	20	2957	c.2779T>C	c.(2779-2781)Tcc>Ccc	p.S927P	MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P|MLLT10_ENST00000377072.3_Missense_Mutation_p.S943P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10			6					TGTCACAATGTCCCAGAACCC	0.458000			T	MLL, PICALM, CDK6	AL										Dom	yes		10	10p12	8028	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)		L	0							SO:0001583	missense			ENST00000307729.7	1	1	hg19	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550030	0.27652	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.16897	2.31;2.32;2.32;2.32	4.94	2.55	0.30701	.	0.530450	0.21640	N	0.071348	T	0.06735	0.0172	N	0.05124	-0.11	0.80722	D	1	B;B;B;B	0.14012	0.009;0.005;0.0;0.005	B;B;B;B	0.11329	0.006;0.003;0.0;0.003	T	0.26189	-1.0110	10	0.30078	T	0.28	.	4.0468	0.09776	0.1548:0.1592:0.0:0.6859	.	622;927;927;943	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	943;927;927;762;927	ENSP00000366272:S943P;ENSP00000401406:S927P;ENSP00000307411:S927P;ENSP00000366258:S927P	ENSP00000307411:S927P	S	+	1	0	MLLT10	22062985	0.997000	0.39634	0.938000	0.37757	0.950000	0.60333	0.429000	0.21412	0.685000	0.31468	0.455000	0.32223	TCC		TCGA-IB-7651-01A-11D-2154-08	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1	1	0	1	61	261	0	66	1	9.999492e-01	14	51	0	66	2		0	0	0	0	0	2	1	1	60	256	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJC1	64215	broad.mit.edu	37	10	22048251	22048251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048251C>T	ENST00000376980.3	-	11	1734	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1			21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)			AGGCTCTCCTCGTCGCTGGAC	0.562000																								0							SO:0001583	missense			ENST00000376980.3	1	1	hg19	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035396	0.54896	.	.	ENSG00000136770	ENST00000376980	T	0.65178	-0.14	5.68	5.68	0.88126	.	0.580607	0.19233	N	0.119344	T	0.57475	0.2056	L	0.59436	1.845	0.80722	D	1	D;P	0.59357	0.985;0.824	B;B	0.43155	0.41;0.083	T	0.54125	-0.8340	10	0.15066	T	0.55	-5.0347	13.0501	0.58950	0.0:0.9265:0.0:0.0735	.	203;482	Q96NY3;Q96KC8	.;DNJC1_HUMAN	K	482	ENSP00000366179:E482K	ENSP00000366179:E482K	E	-	1	0	DNAJC1	22088257	0.998000	0.40836	1.000000	0.80357	0.506000	0.33950	4.877000	0.63086	2.697000	0.92050	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	1	0	1	124	506	0	92	1	1	57	253	0	92	2		0	0	0	0	0	2	1	1	122	494	0	92	2								-3.266984	1	0	121412	1	32	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJC1	64215	broad.mit.edu	37	10	22048286	22048286	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048286T>C	ENST00000376980.3	-	11	1699	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1			21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)			TATGTCAAAGTCCTTCTGCCG	0.587000																								0							SO:0001583	missense			ENST00000376980.3	0	1	hg19	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531884	0.64972	.	.	ENSG00000136770	ENST00000376980	T	0.66815	-0.23	5.58	5.58	0.84498	.	0.100975	0.64402	D	0.000003	T	0.80571	0.4648	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.82575	-0.0389	10	0.72032	D	0.01	-7.77	15.7332	0.77822	0.0:0.0:0.0:1.0	.	191;470	Q96NY3;Q96KC8	.;DNJC1_HUMAN	G	470	ENSP00000366179:D470G	ENSP00000366179:D470G	D	-	2	0	DNAJC1	22088292	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.948000	0.87774	2.132000	0.65825	0.402000	0.26972	GAC		TCGA-IB-7651-01A-11D-2154-08	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	0	0	0	11	502	0	69	1	9.763258e-01	7	284	0	69	2		0	0	0	0	0	2	1	9.982147e-01	12	493	0	69	2								-3.391675	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.260000	0.130000	1.000000	0.250000	0.313749	0.260000	0	1.900000e-01	3.700000e-01
BMI1	648	broad.mit.edu	37	10	22618434	22618434	+	Nonsense_Mutation	SNP	C	C	A	rs140326477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22618434C>A	ENST00000376663.3	+	10	1449	c.944C>A	c.(943-945)tCa>tAa	p.S315*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*|RP11-573G6.9_ENST00000606988.1_lincRNA	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	p.S315L(1)		12					CCTCGAAAATCATCAGTAAAT	0.403000																								1	Substitution - Missense(1)						SO:0001587	stop_gained			ENST00000376663.3	0	1	hg19	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.341758	0.97489	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	.	.	.	5.58	5.58	0.84498	.	0.421653	0.25817	N	0.028101	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.5961	12.541	0.56169	0.0:0.9231:0.0:0.0769	.	.	.	.	X	227;315	.	ENSP00000365851:S315X	S	+	2	0	BMI1	22658440	0.997000	0.39634	0.999000	0.59377	0.991000	0.79684	4.119000	0.57891	2.638000	0.89438	0.650000	0.86243	TCA		TCGA-IB-7651-01A-11D-2154-08	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	0	0	1	65	307	0	99	1	1	32	135	0	99	2		0	0	0	0	0	2	1	1	64	298	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPAG6	9576	broad.mit.edu	37	10	22678185	22678185	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22678185C>A	ENST00000376624.3	+	7	1091	c.949C>A	c.(949-951)Ctt>Att	p.L317I	SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.L393I	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6			27					CATCATGATGCTTGGTTATGT	0.468000																								0							SO:0001583	missense			ENST00000376624.3	1	1	hg19	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981469	0.74474	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.74526	-0.85;0.62;-0.85;-0.85	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	L	0.45352	1.415	0.80722	D	1	P;P;P;P	0.44195	0.736;0.668;0.828;0.828	B;P;B;B	0.47162	0.255;0.54;0.31;0.333	T	0.71570	-0.4553	10	0.30854	T	0.27	-16.9601	19.9238	0.97097	0.0:1.0:0.0:0.0	.	292;393;317;317	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	I	317;393;292;317	ENSP00000365811:L317I;ENSP00000365788:L393I;ENSP00000441325:L292I;ENSP00000323599:L317I	ENSP00000323599:L317I	L	+	1	0	SPAG6	22718191	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.570000	0.82390	2.712000	0.92718	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1	1	0	1	24	227	0	61	0	2.820256e-02	0	3	0	61	2		0	0	0	0	0	2	1	9.999997e-01	24	222	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.750000	1.000000	1.000000	0.972450	0.990000	1	9.300000e-01	1
SPAG6	9576	broad.mit.edu	37	10	22699988	22699988	+	Missense_Mutation	SNP	G	G	A	rs143302036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22699988G>A	ENST00000376624.3	+	10	1485	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q|SPAG6_ENST00000376603.2_Missense_Mutation_p.R524Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q|SPAG6_ENST00000313311.6_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6			27					AAAGCTCGACGACTTTTTGTA	0.368000																								0							SO:0001583	missense			ENST00000376624.3	1	1	hg19	CCDS7139.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.38	3.106882	0.56291	0.0	1.16E-4	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630	T;T;T;T	0.63913	-0.07;-0.07;0.75;-0.07	5.97	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.105878	0.64402	N	0.000004	T	0.61274	0.2334	M	0.77616	2.38	0.36197	D	0.850442	P;P;P	0.51653	0.947;0.945;0.947	B;P;B	0.46758	0.277;0.526;0.206	T	0.67639	-0.5619	10	0.05351	T	0.99	-11.9705	10.7739	0.46338	0.173:0.0:0.827:0.0	.	423;524;448	B4DXZ4;O75602-3;O75602	.;.;SPAG6_HUMAN	Q	448;524;209;423	ENSP00000365811:R448Q;ENSP00000365788:R524Q;ENSP00000365786:R209Q;ENSP00000441325:R423Q	ENSP00000365786:R209Q	R	+	2	0	SPAG6	22739994	1.000000	0.71417	0.043000	0.18650	0.637000	0.38172	6.594000	0.74104	0.674000	0.31244	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1	1	0	1	48	227	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	1	47	224	0	47	2								-20.000000	1	1	121412	6	39	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIP4K2A	5305	broad.mit.edu	37	10	23003205	23003205	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23003205C>A	ENST00000376573.4	-	1	279	c.51G>T	c.(49-51)aaG>aaT	p.K17N	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	p.K17N(1)		29					TCTTCTTGGTCTTGGTCTTGC	0.647000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000376573.4	1	1	hg19	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.943268	0.73672	.	.	ENSG00000150867	ENST00000376573	T	0.48522	0.81	3.71	2.81	0.32909	.	0.000000	0.64402	U	0.000008	T	0.65375	0.2685	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	P	0.61328	0.887	T	0.68465	-0.5401	10	0.62326	D	0.03	.	9.9501	0.41634	0.0:0.8969:0.0:0.1031	.	17	P48426	PI42A_HUMAN	N	17	ENSP00000365757:K17N	ENSP00000365757:K17N	K	-	3	2	PIP4K2A	23043211	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.370000	0.44240	0.812000	0.34326	0.274000	0.19336	AAG		TCGA-IB-7651-01A-11D-2154-08	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	0	0	0	8	227	0	32	1	7.400258e-01	2	73	0	32	2		0	0	0	0	0	2	1	9.889735e-01	8	223	0	32	2								-9.820416	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.430000	0.200000	1.000000	0.390000	0.471560	0.430000	0	2.900000e-01	6.200000e-01
ARMC3	219681	broad.mit.edu	37	10	23287078	23287078	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287078G>A	ENST00000298032.5	+	11	1261	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	ARMC3_ENST00000409983.3_Splice_Site_p.A393T|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Splice_Site_p.A130T|ARMC3_ENST00000409049.3_Splice_Site_p.A393T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3			47					TTTACTCAGCGCTGCTGCTGA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000298032.5	1	0	hg19	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208318	0.95033	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.206506	0.50627	N	0.000119	D	0.85182	0.5638	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.78314	0.617;0.991	D	0.84323	0.0517	10	0.40728	T	0.16	-15.2023	19.5272	0.95212	0.0:0.0:1.0:0.0	.	393;393	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	393;393;329;393;130	ENSP00000298032:A393T;ENSP00000386943:A393T;ENSP00000387288:A393T;ENSP00000365711:A130T	ENSP00000298032:A393T	A	+	1	0	ARMC3	23327084	0.999000	0.42202	0.370000	0.25965	0.981000	0.71138	3.217000	0.51184	2.612000	0.88384	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	1	24	111	0	23	0	0	0	1	0	23	2		0	0	0	0	0	2	1	9.999998e-01	24	109	0	23	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
ARMC3	219681	broad.mit.edu	37	10	23287157	23287157	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287157C>G	ENST00000298032.5	+	11	1340	c.1256C>G	c.(1255-1257)gCt>gGt	p.A419G	ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3			47					GCCAACGCTGCTACAGTATTA	0.473000																								0							SO:0001583	missense			ENST00000298032.5	1	1	hg19	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680206	0.47886	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.277507	0.40728	N	0.001023	D	0.87799	0.6268	M	0.92459	3.31	0.46096	D	0.998869	D;D	0.89917	0.998;1.0	D;D	0.77004	0.969;0.989	D	0.89573	0.3815	10	0.87932	D	0	-29.2057	9.8185	0.40867	0.0:0.7844:0.1399:0.0757	.	419;419	Q5W041-4;Q5W041	.;ARMC3_HUMAN	G	419;419;355;419;156	ENSP00000298032:A419G;ENSP00000386943:A419G;ENSP00000387288:A419G;ENSP00000365711:A156G	ENSP00000298032:A419G	A	+	2	0	ARMC3	23327163	0.993000	0.37304	0.705000	0.30386	0.225000	0.24961	3.558000	0.53749	2.461000	0.83175	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	1	22	85	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999992e-01	20	83	0	25	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
ARMC3	219681	broad.mit.edu	37	10	23287286	23287286	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287286C>A	ENST00000298032.5	+	11	1469	c.1385C>A	c.(1384-1386)gCt>gAt	p.A462D	ARMC3_ENST00000409983.3_Missense_Mutation_p.A462D|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|ARMC3_ENST00000409049.3_Missense_Mutation_p.A462D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3			47					GCTGCTCTCGCTGTCACCGCA	0.502000																								0							SO:0001583	missense			ENST00000298032.5	0	1	hg19	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278603	0.59758	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.71698	-0.59;-0.59;1.11;0.33	5.44	1.42	0.22433	Armadillo-like helical (1);Armadillo-type fold (1);	1.058450	0.07280	N	0.870563	T	0.61689	0.2367	L	0.32530	0.975	0.09310	N	1	P;P	0.44946	0.534;0.846	B;B	0.43809	0.432;0.209	T	0.51942	-0.8641	10	0.87932	D	0	1.1344	5.6993	0.17873	0.1256:0.5985:0.0:0.2759	.	462;462	Q5W041-4;Q5W041	.;ARMC3_HUMAN	D	462;462;398;462;199	ENSP00000298032:A462D;ENSP00000386943:A462D;ENSP00000387288:A462D;ENSP00000365711:A199D	ENSP00000298032:A462D	A	+	2	0	ARMC3	23327292	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	0.349000	0.20055	0.002000	0.14630	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	0	0	0	23	113	1	39		0	0	0	1	39	2		0	0	0	0	0	2	1	9.838909e-01	23	112	1	39	12								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
ARMC3	219681	broad.mit.edu	37	10	23321797	23321797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23321797G>A	ENST00000298032.5	+	18	2338	c.2254G>A	c.(2254-2256)Gca>Aca	p.A752T	ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T|ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3			47					CAGGTATGTAGCAGAAAAAAT	0.318000																								0							SO:0001583	missense			ENST00000298032.5	1	1	hg19	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671896	0.47781	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.49139	0.79;0.8;2.02	5.37	2.33	0.28932	.	0.645585	0.17454	N	0.173689	T	0.52901	0.1763	L	0.58101	1.795	0.40605	D	0.981613	D;D	0.55605	0.965;0.972	P;P	0.54100	0.487;0.742	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.7438	8.5412	0.33393	0.1382:0.0:0.7369:0.125	.	745;752	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	752;745;489	ENSP00000298032:A752T;ENSP00000386943:A745T;ENSP00000365711:A489T	ENSP00000298032:A752T	A	+	1	0	ARMC3	23361803	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	2.981000	0.49329	0.747000	0.32809	-0.266000	0.10368	GCA		TCGA-IB-7651-01A-11D-2154-08	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	1	27	137	0	29	0	0	0	1	0	29	2		0	0	0	0	0	2	1	1	27	136	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
ARMC3	219681	broad.mit.edu	37	10	23326238	23326238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23326238C>T	ENST00000298032.5	+	19	2533	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C|ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3			47					CTCCCTAGTTCGCGGAGAGTA	0.542000																								0							SO:0001583	missense			ENST00000298032.5	1	1	hg19	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509953	0.44660	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.63255	-0.03;-0.03;1.21	5.68	4.77	0.60923	.	0.063312	0.64402	D	0.000010	D	0.82848	0.5126	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87089	0.2171	10	0.87932	D	0	-7.066	16.1674	0.81777	0.1341:0.8659:0.0:0.0	.	810;817	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	817;810;554	ENSP00000298032:R817C;ENSP00000386943:R810C;ENSP00000365711:R554C	ENSP00000298032:R817C	R	+	1	0	ARMC3	23366244	1.000000	0.71417	0.085000	0.20634	0.011000	0.07611	3.600000	0.54052	1.370000	0.46153	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	1	0	1	76	332	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	1	74	325	0	66	2								-3.272582	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSRB2	22921	broad.mit.edu	37	10	23409785	23409785	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23409785A>C	ENST00000376510.3	+	5	646	c.543A>C	c.(541-543)aaA>aaC	p.K181N	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2			9				L-Methionine(DB00134)	AACCAAGGAAACACTGACCAT	0.458000													Esophageal Squamous(89;1240 1363 4973 30188 42299)											0							SO:0001583	missense			ENST00000376510.3	1	1	hg19	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255142	0.39896	.	.	ENSG00000148450	ENST00000376510	T	0.76448	-1.02	5.11	-1.37	0.09056	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.989465	0.08160	U	0.988579	T	0.61286	0.2335	N	0.19112	0.55	0.09310	N	1	B	0.25772	0.134	B	0.28991	0.097	T	0.51268	-0.8727	10	0.59425	D	0.04	2.1645	4.2583	0.10728	0.4603:0.0:0.379:0.1607	.	181	Q9Y3D2	MSRB2_HUMAN	N	181	ENSP00000365693:K181N	ENSP00000365693:K181N	K	+	3	2	MSRB2	23449791	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.456000	0.21859	-0.537000	0.06290	-0.256000	0.11100	AAA		TCGA-IB-7651-01A-11D-2154-08	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	1	0	0	25	112	0	30	1	1	46	141	0	30	2		0	0	0	0	0	2	1	9.999999e-01	24	111	0	30	2								-3.398282	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
PTF1A	256297	broad.mit.edu	37	10	23481479	23481479	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23481479A>T	ENST00000376504.3	+	1	224	c.20A>T	c.(19-21)gAg>gTg	p.E7V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a			7					GTGTTGCTGGAGCACTTCCCC	0.647000																								0							SO:0001583	missense			ENST00000376504.3	1	1	hg19	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887566	0.72410	.	.	ENSG00000168267	ENST00000376504	D	0.96073	-3.9	2.96	2.96	0.34315	.	0.140467	0.46442	U	0.000299	D	0.93245	0.7848	L	0.27053	0.805	0.40935	D	0.984423	D	0.64830	0.994	P	0.53266	0.722	D	0.93282	0.6661	10	0.87932	D	0	-12.742	10.8941	0.47012	1.0:0.0:0.0:0.0	.	7	Q7RTS3	PTF1A_HUMAN	V	7	ENSP00000365687:E7V	ENSP00000365687:E7V	E	+	2	0	PTF1A	23521485	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	8.002000	0.88514	1.222000	0.43521	0.260000	0.18958	GAG		TCGA-IB-7651-01A-11D-2154-08	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	1	0	0	51	308	0	55	0	2.108936e-02	0	2	0	55	2		0	0	0	0	0	2	1	1	51	306	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
KIAA1217	56243	broad.mit.edu	37	10	24508579	24508579	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24508579T>C	ENST00000376454.3	+	2	125	c.95T>C	c.(94-96)gTa>gCa	p.V32A	KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217			70					AATCTGCATGTAACATCACCA	0.428000																								0							SO:0001583	missense			ENST00000376454.3	1	1	hg19	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706174	0.30232	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.87	3.52	0.40303	.	0.362629	0.20046	N	0.100403	T	0.43077	0.1231	L	0.34521	1.04	0.27381	N	0.955423	B;B;B;B	0.18310	0.003;0.001;0.027;0.003	B;B;B;B	0.16289	0.015;0.007;0.015;0.009	T	0.30765	-0.9967	10	0.05833	T	0.94	.	8.2229	0.31552	0.0:0.0671:0.3822:0.5507	.	32;32;32;32	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	A	32	ENSP00000365639:V32A;ENSP00000392625:V32A;ENSP00000365637:V32A;ENSP00000365635:V32A	ENSP00000365635:V32A	V	+	2	0	KIAA1217	24548585	0.998000	0.40836	0.329000	0.25429	0.565000	0.35776	2.851000	0.48302	0.476000	0.27440	0.533000	0.62120	GTA		TCGA-IB-7651-01A-11D-2154-08	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1	30	114	0	33	0	7.027572e-01	0	11	0	33	2		0	0	0	0	0	2	1	1	29	112	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KIAA1217	56243	broad.mit.edu	37	10	24783453	24783453	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24783453A>G	ENST00000376454.3	+	7	1734	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217			70					CCATGGAGAAACAGATTGCCA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000376454.3	1	1	hg19	CCDS31165.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1	55	253	0	65	0	8.535357e-01	1	17	0	65	2		0	0	0	0	0	2	1	1	55	250	0	64	2								-20.000000	1	1	121412	2	32	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1217	56243	broad.mit.edu	37	10	24813290	24813290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24813290C>T	ENST00000376454.3	+	13	2525	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A515V|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217			70					ACGGACGCAGCCCAAGCCGCA	0.567000																								0							SO:0001583	missense			ENST00000376454.3	1	1	hg19	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598899	0.28445	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.61	5.61	0.85477	.	0.937129	0.09094	N	0.849465	T	0.44477	0.1295	L	0.29908	0.895	0.25320	N	0.989121	B;B;B;B;P;B;P;B	0.43477	0.383;0.098;0.383;0.011;0.707;0.383;0.808;0.328	B;B;B;B;B;B;B;B	0.40864	0.124;0.021;0.124;0.028;0.318;0.248;0.342;0.178	T	0.23583	-1.0184	10	0.18276	T	0.48	.	14.4641	0.67472	0.1471:0.8529:0.0:0.0	.	797;797;515;515;515;515;832;832	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	V	752;797;797;515;832;797;647;515;515;515;515;515	ENSP00000365645:A752V;ENSP00000365639:A797V;ENSP00000392625:A797V;ENSP00000365637:A832V;ENSP00000365635:A797V;ENSP00000404798:A647V;ENSP00000302343:A515V;ENSP00000379722:A515V;ENSP00000365634:A515V;ENSP00000379723:A515V	ENSP00000302343:A515V	A	+	2	0	KIAA1217	24853296	0.042000	0.20092	0.987000	0.45799	0.222000	0.24845	2.307000	0.43682	2.643000	0.89663	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	0	19	413	0	94	0	9.294444e-01	0	100	0	94	2		0	0	0	0	0	2	1	9.999890e-01	18	404	0	93	2								-4.620357	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.530000	0.320000	1.000000	0.520000	0.565089	0.530000	0	4.200000e-01	6.900000e-01
KIAA1217	56243	broad.mit.edu	37	10	24820880	24820880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24820880C>T	ENST00000376454.3	+	15	3234	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000396445.1_Silent_p.G751G|KIAA1217_ENST00000376451.2_Silent_p.G751G|KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000376452.3_Silent_p.G1032G	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217			70					CGAGGTCAGGCGATGTGGTCT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000376454.3	1	1	hg19	CCDS31165.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	0	21	205	0	57	1	9.995643e-01	2	122	0	57	2		0	0	0	0	0	2	1	9.999979e-01	20	203	0	55	2								-3.221888	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.710000	1.000000	1.000000	0.962066	0.990000	1	8.900000e-01	1
KIAA1217	56243	broad.mit.edu	37	10	24832433	24832433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24832433C>T	ENST00000376454.3	+	19	4264	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.Q1095*|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217			70					AGAAGACATACAGACGGTTAA	0.473000																								0							SO:0001587	stop_gained			ENST00000376454.3	0	1	hg19	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	40	8.491585	0.98834	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.7465	0.96253	0.0:1.0:0.0:0.0	.	.	.	.	X	1095;1412;1095;1095	.	ENSP00000365634:Q1095X	Q	+	1	0	KIAA1217	24872439	1.000000	0.71417	0.959000	0.39883	0.148000	0.21650	7.480000	0.81109	2.680000	0.91292	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	1	0	1	54	260	0	53	1	9.998610e-01	3	63	0	53	2		0	0	0	0	0	2	1	1	53	254	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP21	57584	broad.mit.edu	37	10	24880606	24880606	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880606A>C	ENST00000396432.2	-	23	4495	c.4009T>G	c.(4009-4011)Tgg>Ggg	p.W1337G	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21			78					GTGAAAAACCAGTCATGCTAA	0.373000																								0							SO:0001583	missense			ENST00000396432.2	1	1	hg19	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.833261|2.833261	0.50951|0.50951	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000418033|ENST00000396432;ENST00000447364;ENST00000320481	.|T;T	.|0.11169	.|2.8;2.8	5.43|5.43	4.3|4.3	0.51218|0.51218	.|Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	.|0.123729	.|0.64402	.|D	.|0.000015	T|T	0.35128|0.35128	0.0921|0.0921	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.62326	.|D	.|0.03	.|.	11.3975|11.3975	0.49851|0.49851	0.9288:0.0:0.0711:0.0|0.9288:0.0:0.0711:0.0	.|.	.|1336	.|Q5T5U3	.|RHG21_HUMAN	R|G	150|1337;786;1124	.|ENSP00000379709:W1337G;ENSP00000365604:W1124G	.|ENSP00000365604:W1124G	L|W	-|-	2|1	0|0	ARHGAP21|ARHGAP21	24920612|24920612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.670000|8.670000	0.91168|0.91168	1.010000|1.010000	0.39314|0.39314	0.460000|0.460000	0.39030|0.39030	CTG|TGG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	1	0	1	72	362	0	74	1	9.999659e-01	6	71	0	74	2		0	0	0	0	0	2	1	1	72	355	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP21	57584	broad.mit.edu	37	10	24880896	24880896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880896G>A	ENST00000396432.2	-	22	4408	c.3922C>T	c.(3922-3924)Cga>Tga	p.R1308*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21			78					TCTGATGTTCGAACAAGGGTG	0.438000																								0							SO:0001587	stop_gained			ENST00000396432.2	0	1	hg19	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.207246|9.207246	0.99099|0.99099	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481|ENST00000418033	.|.	.|.	.|.	5.76|5.76	2.3|2.3	0.28687|0.28687	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63200	.|0.2491	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68435	.|-0.5409	.|3	0.02654|.	T|.	1|.	.|.	14.3043|14.3043	0.66375|0.66375	0.0:0.0:0.4766:0.5234|0.0:0.0:0.4766:0.5234	.|.	.|.	.|.	.|.	X|L	1308;757;1095|121	.|.	ENSP00000365604:R1095X|.	R|S	-|-	1|2	2|0	ARHGAP21|ARHGAP21	24920902|24920902	0.960000|0.960000	0.32886|0.32886	0.035000|0.035000	0.18076|0.18076	0.907000|0.907000	0.53573|0.53573	1.010000|1.010000	0.29898|0.29898	0.246000|0.246000	0.21394|0.21394	0.655000|0.655000	0.94253|0.94253	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	1	0	1	101	490	0	105	1	9.999999e-01	8	103	0	105	2		0	0	0	0	0	2	1	1	98	478	0	104	2								-3.239291	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP21	57584	broad.mit.edu	37	10	24889643	24889643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24889643C>T	ENST00000396432.2	-	14	3550	c.3064G>A	c.(3064-3066)Gct>Act	p.A1022T	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21			78					CTGTCTTCAGCCTGAAACAGG	0.458000																								0							SO:0001583	missense			ENST00000396432.2	1	1	hg19	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005133	0.93287	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	6.02	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047686	0.85682	D	0.000000	D	0.92205	0.7528	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92537	0.6038	10	0.51188	T	0.08	.	16.5796	0.84711	0.1313:0.8687:0.0:0.0	.	1012;1021	F8W9U9;Q5T5U3	.;RHG21_HUMAN	T	1022;809;1012;1022;857	ENSP00000379709:A1022T;ENSP00000365604:A809T;ENSP00000365592:A1012T;ENSP00000405018:A1022T	ENSP00000365604:A809T	A	-	1	0	ARHGAP21	24929649	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.767000	0.85331	1.518000	0.48934	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	1	0	1	112	466	0	85	1	9.999088e-01	10	48	0	85	2		0	0	0	0	0	2	1	1	108	457	0	101	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP21	57584	broad.mit.edu	37	10	24909750	24909750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909750G>A	ENST00000396432.2	-	9	1560	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ARHGAP21_ENST00000320481.6_Silent_p.I145I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21			78					TGCTGCTTGAGATTCCATCAG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000396432.2	1	1	hg19	CCDS7144.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	0	0	1	58	254	0	48	0	9.055598e-01	1	18	0	48	2		0	0	0	0	0	2	1	1	55	244	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP21	57584	broad.mit.edu	37	10	24910055	24910055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24910055C>T	ENST00000396432.2	-	9	1255	c.769G>A	c.(769-771)Gtt>Att	p.V257I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V44I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21			78					GATTTTGCAACATCTGTTGGT	0.413000																								0							SO:0001583	missense			ENST00000396432.2	0	1	hg19	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	5.651	0.304756	0.10678	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.42513	2.92;3.04;0.97;0.98	5.35	4.44	0.53790	.	0.347323	0.30999	N	0.008448	T	0.21062	0.0507	N	0.11927	0.2	0.19300	N	0.999974	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.12734	-1.0536	10	0.14656	T	0.56	.	8.1419	0.31089	0.0:0.7801:0.0:0.2199	.	247;256	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	257;246;44;247;257;92	ENSP00000379709:V257I;ENSP00000365604:V44I;ENSP00000365592:V247I;ENSP00000405018:V257I	ENSP00000365604:V44I	V	-	1	0	ARHGAP21	24950061	0.274000	0.24191	0.997000	0.53966	0.918000	0.54935	0.494000	0.22467	2.686000	0.91538	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	0	0	0	58	249	0	50	1	9.910561e-01	4	30	0	50	2		0	0	0	0	0	2	1	1	47	207	0	72	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENKUR	219670	broad.mit.edu	37	10	25273753	25273753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25273753G>A	ENST00000331161.4	-	5	895	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein			10					CTCTGCTTGCGGATCTTCTTT	0.388000																								0							SO:0001583	missense			ENST00000331161.4	1	1	hg19	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094431	0.56075	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.25	5.25	0.73442	.	0.363904	0.32473	N	0.006055	T	0.79879	0.4522	M	0.84082	2.675	0.43657	D	0.996073	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82528	-0.0412	9	0.87932	D	0	-25.1717	13.5449	0.61697	0.078:0.0:0.922:0.0	.	226;226	Q5VV23;Q8TC29	.;ENKUR_HUMAN	C	226	.	ENSP00000331044:R226C	R	-	1	0	ENKUR	25313759	0.995000	0.38212	0.908000	0.35775	0.524000	0.34500	2.989000	0.49393	2.602000	0.87976	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	1	0	1	55	255	0	51	0	3.268616e-02	1	1	0	51	2		0	0	0	0	0	2	1	1	54	250	0	51	2								-2.555355	1	1	121412	1	39	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR158	57512	broad.mit.edu	37	10	25886972	25886972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25886972C>T	ENST00000376351.3	+	11	2776	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158			119					AAGGAGGAGACCCTGAAAAAC	0.542000																								0							SO:0001583	missense			ENST00000376351.3	1	1	hg19	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881938	0.33255	.	.	ENSG00000151025	ENST00000376351	T	0.61742	0.08	5.78	4.87	0.63330	.	0.403301	0.23426	N	0.048316	T	0.51839	0.1698	L	0.34521	1.04	0.19945	N	0.99994	B	0.19935	0.04	B	0.22880	0.042	T	0.42616	-0.9441	10	0.49607	T	0.09	.	19.1354	0.93426	0.1171:0.8828:0.0:0.0	.	806	Q5T848	GP158_HUMAN	I	806	ENSP00000365529:T806I	ENSP00000365529:T806I	T	+	2	0	GPR158	25926978	0.976000	0.34144	1.000000	0.80357	0.478000	0.33099	4.658000	0.61497	0.792000	0.33850	-0.824000	0.03097	ACC		TCGA-IB-7651-01A-11D-2154-08	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	1	0	1	109	488	0	146	0	0	0	1	0	146	2		0	0	0	0	0	2	1	1	108	484	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR158	57512	broad.mit.edu	37	10	25887906	25887906	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25887906C>T	ENST00000376351.3	+	11	3710	c.3351C>T	c.(3349-3351)agC>agT	p.S1117S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158			119					CTGGGCAGAGCGAAGAACTGC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000376351.3	1	1	hg19	CCDS31166.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	1	0	1	62	348	0	75	0	2.369590e-02	0	2	0	75	2		0	0	0	0	0	2	1	1	61	341	0	75	2								-3.224601	1	1	121410	5	37	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO3A	53904	broad.mit.edu	37	10	26305807	26305807	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26305807G>A	ENST00000265944.5	+	7	733	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P|MYO3A_ENST00000376301.1_Silent_p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA			146					TAGGAACACCGTTTTGGATGG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000265944.5	1	1	hg19	CCDS7148.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1	56	291	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	56	286	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO3A	53904	broad.mit.edu	37	10	26432413	26432413	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26432413A>T	ENST00000265944.5	+	21	2465	c.2299A>T	c.(2299-2301)Att>Ttt	p.I767F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA			146					TGCTAGAGTTATTGAATATGA	0.338000																								0							SO:0001583	missense			ENST00000265944.5	1	1	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929198	0.73327	.	.	ENSG00000095777	ENST00000265944	D	0.89552	-2.53	6.02	3.68	0.42216	Myosin head, motor domain (3);	0.043720	0.85682	D	0.000000	D	0.95124	0.8420	M	0.93241	3.395	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.94437	0.7655	10	0.87932	D	0	.	10.4349	0.44430	0.8684:0.0:0.1316:0.0	.	767	Q8NEV4	MYO3A_HUMAN	F	767	ENSP00000265944:I767F	ENSP00000265944:I767F	I	+	1	0	MYO3A	26472419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.755000	0.55197	0.512000	0.28257	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1	39	165	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	38	161	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO3A	53904	broad.mit.edu	37	10	26443677	26443677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26443677C>T	ENST00000265944.5	+	25	2884	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA			146					CTCCTTAGGGCGACACTGGAG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000265944.5	1	1	hg19	CCDS7148.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1	28	100	0	36	0	4.001252e-01	1	5	0	36	2		0	0	0	0	0	2	1	1	28	97	0	36	2								-19.635390	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MYO3A	53904	broad.mit.edu	37	10	26462912	26462912	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26462912A>G	ENST00000265944.5	+	30	3885	c.3719A>G	c.(3718-3720)tAc>tGc	p.Y1240C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA			146					ATCCAGAGTTACTATCAGAGG	0.463000																								0							SO:0001583	missense			ENST00000265944.5	1	1	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	6.388	0.439646	0.12104	.	.	ENSG00000095777	ENST00000265944	T	0.77098	-1.07	4.89	-0.76	0.11041	.	1.242500	0.05268	N	0.516955	T	0.65133	0.2662	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52373	-0.8584	10	0.62326	D	0.03	.	6.3292	0.21260	0.4619:0.0:0.0679:0.4702	.	1240	Q8NEV4	MYO3A_HUMAN	C	1240	ENSP00000265944:Y1240C	ENSP00000265944:Y1240C	Y	+	2	0	MYO3A	26502918	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.522000	0.22909	-0.321000	0.08627	-0.336000	0.08194	TAC		TCGA-IB-7651-01A-11D-2154-08	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1	77	322	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	1	1	76	313	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO3A	53904	broad.mit.edu	37	10	26490219	26490219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26490219G>A	ENST00000265944.5	+	33	4737	c.4571G>A	c.(4570-4572)aGa>aAa	p.R1524K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA			146					GAAAAACGAAGACCAAGGAAA	0.249000																								0							SO:0001583	missense			ENST00000265944.5	0	1	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022481	0.08006	.	.	ENSG00000095777	ENST00000265944	T	0.71341	-0.56	5.71	3.68	0.42216	.	0.205122	0.52532	D	0.000074	T	0.44644	0.1303	N	0.11845	0.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.02654	T	1	.	8.5118	0.33222	0.1928:0.0:0.8072:0.0	.	1524	Q8NEV4	MYO3A_HUMAN	K	1524	ENSP00000265944:R1524K	ENSP00000265944:R1524K	R	+	2	0	MYO3A	26530225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.107000	0.41844	0.644000	0.30656	0.557000	0.71058	AGA		TCGA-IB-7651-01A-11D-2154-08	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	0	0	0	5	64	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.350887e-01	4	63	0	17	2								-9.805761	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.910000	0.350000	1.000000	1.000000	0.829212	0.910000	1	5.800000e-01	1
GAD2	2572	broad.mit.edu	37	10	26559594	26559594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26559594C>T	ENST00000376261.3	+	10	1504	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)			48					CTCGTGAGTGCCACAGCTGGA	0.458000																								0							SO:0001583	missense			ENST00000376261.3	1	1	hg19	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884271	0.91814	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.54866	0.55;0.55	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.097447	0.64402	D	0.000001	T	0.78672	0.4320	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.83351	-0.0003	10	0.87932	D	0	-17.2435	19.2442	0.93895	0.0:1.0:0.0:0.0	.	334	Q05329	DCE2_HUMAN	V	334	ENSP00000365437:A334V;ENSP00000259271:A334V	ENSP00000259271:A334V	A	+	2	0	GAD2	26599600	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.601000	0.67606	2.660000	0.90430	0.643000	0.83706	GCC		TCGA-IB-7651-01A-11D-2154-08	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	1	0	0	36	777	0	131	0	1.910695e-02	0	5	0	131	2		0	0	0	0	0	2	1	1	35	760	0	129	2								-4.545991	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.530000	0.370000	1.000000	0.520000	0.560138	0.530000	0	4.400000e-01	6.400000e-01
GAD2	2572	broad.mit.edu	37	10	26569946	26569946	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26569946C>A	ENST00000376261.3	+	12	1669	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	GAD2_ENST00000259271.3_Missense_Mutation_p.S389Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)			48					AGGGCCAACTCTGTGACGTGG	0.498000																								0							SO:0001583	missense			ENST00000376261.3	1	1	hg19	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106318	0.77096	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.66638	-0.22;-0.22	4.77	3.85	0.44370	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.059798	0.64402	D	0.000001	D	0.88926	0.6570	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93226	0.6613	10	0.87932	D	0	-9.0047	15.1527	0.72713	0.0:0.8578:0.1422:0.0	.	389	Q05329	DCE2_HUMAN	Y	389	ENSP00000365437:S389Y;ENSP00000259271:S389Y	ENSP00000259271:S389Y	S	+	2	0	GAD2	26609952	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.734000	0.68580	1.097000	0.41459	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	0	0	0	24	643	0	104	0	1.337050e-02	0	5	0	104	2		0	0	0	0	0	2	1	9.999996e-01	24	631	0	99	2								-2.851383	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.430000	0.280000	1.000000	0.430000	0.470399	0.430000	0	3.500000e-01	5.500000e-01
ABI1	10006	broad.mit.edu	37	10	27149786	27149786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27149786C>T	ENST00000376142.2	-	1	78	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000346832.5_Missense_Mutation_p.E3K|ABI1_ENST00000355394.4_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1			22					ATCTGCAGCTCTGCCATTTTC	0.562000																								0							SO:0001583	missense			ENST00000376142.2	1	1	hg19	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416588	0.83449	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.81942	2.565	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B	0.23891	0.031;0.001;0.093;0.008;0.009;0.008;0.029;0.01;0.01;0.017;0.017;0.022	B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.007;0.007;0.035;0.012;0.013;0.003;0.044;0.006;0.016;0.024;0.024;0.011	D	0.91037	0.4868	10	0.72032	D	0.01	-8.868	17.3129	0.87214	0.0:1.0:0.0:0.0	.	3;3;3;3;3;28;3;3;3;3;3;3	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	K	3	ENSP00000365308:E3K;ENSP00000365340:E3K;ENSP00000365336:E3K;ENSP00000365330:E3K;ENSP00000365312:E3K;ENSP00000352114:E3K;ENSP00000365309:E3K;ENSP00000347555:E3K;ENSP00000279599:E3K;ENSP00000365304:E3K;ENSP00000365307:E3K;ENSP00000439646:E3K;ENSP00000440101:E3K;ENSP00000365310:E3K	ENSP00000279599:E3K	E	-	1	0	ABI1	27189792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.100000	0.76989	2.496000	0.84212	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	0	0	0	14	407	0	74	1	9.833756e-01	7	192	0	74	2		0	0	0	0	0	2	1	9.997248e-01	14	398	0	74	2								-13.366470	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.400000	0.230000	1.000000	0.390000	0.447594	0.400000	0	3.000000e-01	5.500000e-01
ANKRD26	22852	broad.mit.edu	37	10	27313378	27313378	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313378A>C	ENST00000376087.4	-	28	4248	c.4083T>G	c.(4081-4083)acT>acG	p.T1361T	ANKRD26_ENST00000436985.2_Silent_p.T1377T|ANKRD26_ENST00000376070.3_Silent_p.T918T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26			70					AATCTTACCCAGTTATCTCTC	0.224000																								0							SO:0001819	synonymous_variant			ENST00000376087.4	0	1	hg19	CCDS41499.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1	0	0	0	27	148	0	51	1	6.636908e-01	2	12	0	51	2		0	0	0	0	0	2	1	1	27	144	0	51	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
ANKRD26	22852	broad.mit.edu	37	10	27313399	27313399	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313399A>G	ENST00000376087.4	-	28	4227	c.4062T>C	c.(4060-4062)gtT>gtC	p.V1354V	ANKRD26_ENST00000436985.2_Silent_p.V1370V|ANKRD26_ENST00000376070.3_Silent_p.V911V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26			70					TTTCTAATTCAACATTTTTCT	0.249000																								0							SO:0001819	synonymous_variant			ENST00000376087.4	1	1	hg19	CCDS41499.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1	1	0	1	31	163	0	61	1	8.481825e-01	5	15	0	61	2		0	0	0	0	0	2	1	1	31	159	0	61	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
ANKRD26	22852	broad.mit.edu	37	10	27382725	27382725	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27382725C>T	ENST00000376087.4	-	2	411	c.246G>A	c.(244-246)acG>acA	p.T82T	ANKRD26_ENST00000436985.2_Silent_p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26			70					AATGTAGAGCCGTCCTATGAG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000376087.4	1	1	hg19	CCDS41499.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1	1	0	0	50	209	0	40	1	3.878214e-02	2	0	0	40	2		0	0	0	0	0	2	1	1	50	205	0	40	2								-2.705663	1	1	120996	6	37	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YME1L1	10730	broad.mit.edu	37	10	27436510	27436510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27436510C>T	ENST00000326799.3	-	3	404	c.256G>A	c.(256-258)Gag>Aag	p.E86K	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.E86K|YME1L1_ENST00000376016.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase			23					tttgctggctccatgaacatg	0.453000																								0							SO:0001583	missense			ENST00000326799.3	0	1	hg19	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	0.335	-0.953921	0.02285	.	.	ENSG00000136758	ENST00000326799;ENST00000375969	D	0.92348	-3.02	2.06	0.00919	0.14078	Peptidase M41, FtsH (1);	1.972690	0.03706	U	0.249369	T	0.82195	0.4984	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.0	B;B	0.15484	0.013;0.0	T	0.70970	-0.4727	10	0.59425	D	0.04	.	3.2512	0.06815	0.0:0.5467:0.2784:0.1749	.	86;86	Q6PJ89;Q96TA2	.;YMEL1_HUMAN	K	86	ENSP00000318480:E86K	ENSP00000318480:E86K	E	-	1	0	YME1L1	27476516	0.001000	0.12720	0.002000	0.10522	0.036000	0.12997	-0.120000	0.10660	0.002000	0.14630	0.467000	0.42956	GAG		TCGA-IB-7651-01A-11D-2154-08	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	0	0	0	9	46	0	8	1	7.880504e-01	6	11	0	8	2		0	0	0	0	0	2	1	9.923994e-01	8	41	0	8	2								-8.448425	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.920000	1.000000	1.000000	0.994705	0.990000	1	9.900000e-01	1
MASTL	84930	broad.mit.edu	37	10	27459101	27459101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27459101G>A	ENST00000375940.4	+	8	1270	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MASTL_ENST00000375946.4_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.D405N			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like			29					AGTAGAACTGGATGTAAATAA	0.438000																								0							SO:0001583	missense			ENST00000375940.4	1	1	hg19	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379084	0.24944	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.78003	-1.14;-1.14;-1.14	5.92	3.91	0.45181	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.694533	0.14607	N	0.309297	T	0.75110	0.3805	M	0.67953	2.075	0.09310	N	1	P;P;P	0.41848	0.646;0.514;0.763	B;B;B	0.41723	0.365;0.216;0.229	T	0.64542	-0.6383	10	0.30854	T	0.27	-13.2781	10.2052	0.43109	0.0:0.1064:0.6707:0.2228	.	405;405;405	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	N	405	ENSP00000365113:D405N;ENSP00000343446:D405N;ENSP00000365107:D405N	ENSP00000343446:D405N	D	+	1	0	MASTL	27499107	0.000000	0.05858	0.829000	0.32907	0.393000	0.30537	0.040000	0.13905	1.484000	0.48361	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	1	0	1	92	430	0	92	1	9.793827e-01	12	19	0	92	2		0	0	0	0	0	2	1	1	91	425	0	92	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACBD5	91452	broad.mit.edu	37	10	27497259	27497259	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27497259G>A	ENST00000375888.1	-	10	1411	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	ACBD5_ENST00000396271.3_Silent_p.I440I|ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.I405I			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5			13					GCACGAGGGCGATCTGCTCAT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000375888.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	1	0	0	62	666	0	138	1	9.999950e-01	36	150	0	138	2		0	0	0	0	0	2	1	1	60	659	0	136	2								-15.268570	1	1	121412	6	43	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.780000	1.000000	1.000000	0.960820	0.990000	1	8.900000e-01	1
PTCHD3	374308	broad.mit.edu	37	10	27692284	27692284	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27692284A>C	ENST00000438700.3	-	3	1331	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3			55					TATGCAGTCAAACCTGTAAAT	0.438000																								0							SO:0001583	missense			ENST00000438700.3	1	1	hg19	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	0.168	-1.074373	0.01903	.	.	ENSG00000182077	ENST00000438700	D	0.91996	-2.95	4.09	-2.89	0.05665	Sterol-sensing domain (1);	1.570750	0.03132	N	0.165365	T	0.78886	0.4354	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.69289	-0.5184	10	0.27785	T	0.31	1.3274	5.6094	0.17396	0.2793:0.5362:0.0762:0.1084	.	405	Q3KNS1	PTHD3_HUMAN	C	405	ENSP00000417658:F405C	ENSP00000417658:F405C	F	-	2	0	PTCHD3	27732290	0.198000	0.23374	0.003000	0.11579	0.003000	0.03518	0.623000	0.24447	-0.412000	0.07519	0.459000	0.35465	TTT		TCGA-IB-7651-01A-11D-2154-08	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	1	0	1	59	345	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	1	59	333	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox			16					GCTGCACCAGCGGCACTTTGA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000375790.5	1	1	hg19	CCDS7156.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	1	0	1	86	459	0	98	0	1.823134e-01	1	4	0	98	2		0	0	0	0	0	2	1	1	86	452	0	95	2								-20.000000	1	1	121412	9	43	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMC4	55130	broad.mit.edu	37	10	28224123	28224123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28224123C>A	ENST00000305242.5	-	16	2403	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4			75					ACAAGTACTTCTTCAGGCTGA	0.433000																								0							SO:0001587	stop_gained			ENST00000305242.5	0	1	hg19	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	42	9.429866	0.99169	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	.	.	.	5.92	5.92	0.95590	.	0.087917	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-38.5196	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	463;771;296	.	ENSP00000306410:E771X	E	-	1	0	ARMC4	28264129	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.762000	0.85270	2.809000	0.96659	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	1	0	0	18	412	0	78	0	0	0	1	0	78	2		0	0	0	0	0	2	1	9.999818e-01	18	409	0	78	2								-4.159592	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.510000	0.300000	1.000000	0.500000	0.541848	0.510000	0	3.900000e-01	6.600000e-01
MPP7	143098	broad.mit.edu	37	10	28345483	28345483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28345483G>A	ENST00000375732.1	-	16	1736	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MPP7_ENST00000540098.1_Missense_Mutation_p.R493C|MPP7_ENST00000337532.5_Missense_Mutation_p.R493C|MPP7_ENST00000375719.3_Missense_Mutation_p.R493C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)			22					TCTCTCAAACGCTCTATTGAT	0.373000																								0							SO:0001583	missense			ENST00000375732.1	1	1	hg19	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873324	0.72180	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.72	5.72	0.89469	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.39467	1.215	0.80722	D	1	B	0.33964	0.434	B	0.31614	0.133	T	0.19128	-1.0315	10	0.48119	T	0.1	.	19.876	0.96870	0.0:0.0:1.0:0.0	.	493	Q5T2T1	MPP7_HUMAN	C	493;493;493;493;254	ENSP00000364884:R493C;ENSP00000337907:R493C;ENSP00000438693:R493C;ENSP00000364871:R493C;ENSP00000398319:R254C	ENSP00000337907:R493C	R	-	1	0	MPP7	28385489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.986000	0.63851	2.709000	0.92574	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	1	0	0	55	617	0	123	0	3.550186e-01	0	15	0	123	2		0	0	0	0	0	2	1	1	52	598	0	123	2								-13.518070	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.970000	0.740000	1.000000	1.000000	0.940673	0.970000	1	8.500000e-01	1
WAC	51322	broad.mit.edu	37	10	28878735	28878735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878735G>A	ENST00000354911.4	+	5	613	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	WAC_ENST00000347934.4_Missense_Mutation_p.R151Q|WAC_ENST00000375664.4_Missense_Mutation_p.R106Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000428935.1_Missense_Mutation_p.R106Q	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil			32					TACAATTGTCGAACAGAAGTT	0.318000																								0							SO:0001583	missense			ENST00000354911.4	1	1	hg19	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167989	0.94768	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.24	4.33	0.51752	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	N	0.17312	0.475	0.80722	D	1	B;P;P	0.42584	0.274;0.784;0.515	B;B;B	0.40444	0.036;0.329;0.06	T	0.75513	-0.3291	10	0.45353	T	0.12	-5.4856	16.1738	0.81836	0.0:0.1336:0.8664:0.0	.	106;151;151	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	Q	106;106;151;151;106;106;106;106;106;106	ENSP00000364816:R106Q;ENSP00000364797:R106Q;ENSP00000311106:R151Q;ENSP00000346986:R151Q;ENSP00000399706:R106Q;ENSP00000404758:R106Q;ENSP00000400848:R106Q;ENSP00000415645:R106Q	ENSP00000311106:R151Q	R	+	2	0	WAC	28918741	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.567000	0.98161	1.315000	0.45114	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	1	0	1	74	331	0	105	1	1	71	287	0	105	2		0	0	0	0	0	2	1	1	72	321	0	103	2								-3.417871	1	0	121408	2	37	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WAC	51322	broad.mit.edu	37	10	28878779	28878779	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878779A>C	ENST00000354911.4	+	5	657	c.496A>C	c.(496-498)Aga>Cga	p.R166R	WAC_ENST00000347934.4_Splice_Site_p.R166R|WAC_ENST00000375664.4_Splice_Site_p.R121R|WAC_ENST00000375646.1_Splice_Site_p.R121R|WAC_ENST00000428935.1_Splice_Site_p.R121R	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil			32					GTGGCTTGAAAGGTAATTAGC	0.323000																								0							SO:0001630	splice_region_variant			ENST00000354911.4	1	0	hg19	CCDS7159.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	1	0	1	54	227	0	76	1	1	49	335	0	76	2		0	0	0	0	0	2	1	1	53	215	0	74	2								-2.312283	0	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WAC	51322	broad.mit.edu	37	10	28897207	28897207	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28897207A>G	ENST00000354911.4	+	8	1173	c.1012A>G	c.(1012-1014)Aca>Gca	p.T338A	WAC_ENST00000347934.4_Missense_Mutation_p.T235A|WAC_ENST00000375664.4_Missense_Mutation_p.T293A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000428935.1_Missense_Mutation_p.T293A	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil			32					TGCACCTCCAACATCTGCTTC	0.478000																								0							SO:0001583	missense			ENST00000354911.4	1	1	hg19	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829402	0.32329	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000	T;T;T;T;T	0.33654	1.94;1.97;2.01;1.94;1.4	5.38	1.27	0.21489	.	0.539484	0.22346	N	0.061262	T	0.11537	0.0281	N	0.03608	-0.345	0.36342	D	0.859534	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15723	-1.0427	10	0.09338	T	0.73	-5.1968	3.9112	0.09204	0.5186:0.0:0.1898:0.2916	.	293;235;338	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	A	293;190;235;338;293;293;293	ENSP00000364816:T293A;ENSP00000364797:T190A;ENSP00000311106:T235A;ENSP00000346986:T338A;ENSP00000399706:T293A	ENSP00000311106:T235A	T	+	1	0	WAC	28937213	0.998000	0.40836	0.996000	0.52242	0.979000	0.70002	3.518000	0.53451	0.369000	0.24510	0.482000	0.46254	ACA		TCGA-IB-7651-01A-11D-2154-08	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	1	0	1	50	423	0	76	1	1	54	457	0	76	2		0	0	0	0	0	2	1	1	48	411	0	75	2								-17.393240	1	1	121412	4	38	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.940000	1.000000	1.000000	0.997056	0.990000	1	9.900000e-01	1
BAMBI	25805	broad.mit.edu	37	10	28970438	28970438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970438C>T	ENST00000375533.3	+	2	884	c.328C>T	c.(328-330)Cac>Tac	p.H110Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	p.H110Y(1)		17					CAGAGGGCTGCACGATGTTCT	0.532000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000375533.3	1	1	hg19	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104114	0.37145	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.90069	-2.61	5.65	5.65	0.86999	.	0.224686	0.53938	D	0.000058	D	0.84469	0.5479	L	0.44542	1.39	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.78671	-0.2113	10	0.28530	T	0.3	-21.1251	13.9437	0.64071	0.0:0.9276:0.0:0.0724	.	110;110	Q13145;Q53G66	BAMBI_HUMAN;.	Y	110;97	ENSP00000364683:H110Y	ENSP00000364683:H110Y	H	+	1	0	BAMBI	29010444	1.000000	0.71417	0.952000	0.39060	0.723000	0.41478	6.037000	0.70956	2.668000	0.90789	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	1	0	1	66	392	0	113	1	9.987414e-01	21	40	0	113	2		0	0	0	0	0	2	1	1	66	378	0	113	2								-3.319279	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAMBI	25805	broad.mit.edu	37	10	28970998	28970998	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970998C>T	ENST00000375533.3	+	3	1007	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor			17					GTTGTGGTTCCGGGCAGCGGT	0.483000																								0							SO:0001583	missense			ENST00000375533.3	1	1	hg19	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494650	0.64186	0.0	3.49E-4	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75921	-0.3147	9	0.87932	D	0	-3.3249	13.3044	0.60345	0.3251:0.6749:0.0:0.0	.	151	Q13145	BAMBI_HUMAN	W	151;138	.	ENSP00000364683:R151W	R	+	1	2	BAMBI	29011004	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.298000	0.51818	2.778000	0.95560	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	1	0	1	67	290	0	59	1	9.999925e-01	29	48	0	59	2		0	0	0	0	0	2	1	1	65	284	0	59	2								-2.751850	1	1	121412	16	47	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMYND11	10771	broad.mit.edu	37	10	294415	294415	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:294415A>G	ENST00000397962.3	+	13	1795	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11			24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)		CGGAGCACCCAGACCACAAAC	0.502000																								0							SO:0001583	missense			ENST00000397962.3	1	1	hg19	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745747	0.89663	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.29908	0.895	0.36571	D	0.873003	D;D;P;P;D;P;D;D;P;D	0.59357	0.984;0.984;0.895;0.956;0.984;0.936;0.965;0.985;0.956;0.965	P;P;P;P;P;P;P;P;P;P	0.61201	0.724;0.632;0.452;0.549;0.724;0.885;0.65;0.643;0.549;0.65	T	0.63659	-0.6587	8	0.33940	T	0.23	-31.5843	16.5764	0.84681	1.0:0.0:0.0:0.0	.	416;456;371;401;456;376;385;402;402;425	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	R	456;416;416;456;371;456;376;362;425;416;439;336;251	.	ENSP00000309992:Q416R	Q	+	2	0	ZMYND11	284415	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.265000	0.95647	2.371000	0.80710	0.533000	0.62120	CAG		TCGA-IB-7651-01A-11D-2154-08	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	1	0	1	58	323	0	90	1	1	37	180	0	90	2		0	0	0	0	0	2	1	1	57	317	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SVIL	6840	broad.mit.edu	37	10	29754582	29754582	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29754582G>T	ENST00000355867.4	-	34	6827	c.6075C>A	c.(6073-6075)ccC>ccA	p.P2025P	SVIL_ENST00000535393.1_Silent_p.P939P|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375398.2_Silent_p.P2025P|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin			112		Breast(68;0.103)			TGACCACAGAGGGGGCTCGGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000355867.4	1	1	hg19	CCDS7164.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	1	0	1	45	229	0	60	1	9.999985e-01	13	93	0	60	2		0	0	0	0	0	2	1	1	45	222	0	58	2								-2.840079	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SVIL	6840	broad.mit.edu	37	10	29762878	29762878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29762878G>A	ENST00000355867.4	-	30	6170	c.5418C>T	c.(5416-5418)gcC>gcT	p.A1806A	SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000375400.3_Silent_p.A1380A|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375398.2_Silent_p.A1806A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin			112		Breast(68;0.103)			TCTCTTTGCCGGCTGCCCTCA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000355867.4	1	1	hg19	CCDS7164.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	1	0	1	26	141	0	30	1	9.993461e-01	11	55	0	30	2		0	0	0	0	0	2	1	9.999999e-01	25	137	0	29	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999902	0.990000	1	9.900000e-01	1
SVIL	6840	broad.mit.edu	37	10	29769596	29769596	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29769596G>A	ENST00000355867.4	-	29	5999	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000538146.1_Silent_p.I541I|SVIL_ENST00000375400.3_Silent_p.I1323I|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375398.2_Silent_p.I1749I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin			112		Breast(68;0.103)			AAACGCTGGTGATCTCAAACT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000355867.4	1	1	hg19	CCDS7164.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	0	0	1	98	443	0	98	1	1	21	126	0	98	2		0	0	0	0	0	2	1	1	97	432	0	97	2								-3.386064	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SVIL	6840	broad.mit.edu	37	10	29779902	29779902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29779902G>A	ENST00000355867.4	-	22	4818	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	SVIL_ENST00000535393.1_Missense_Mutation_p.R270C|SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C|SVIL_ENST00000375398.2_Missense_Mutation_p.R1356C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin			112		Breast(68;0.103)			TGAACCCGGCGCTTGGGCCTA	0.572000																								0							SO:0001583	missense			ENST00000355867.4	1	1	hg19	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559153	0.65538	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.37411	2.14;2.05;2.05;2.11;1.2	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	M	0.76574	2.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.67898	-0.5551	10	0.87932	D	0	-17.2551	16.543	0.84407	0.0:0.0:1.0:0.0	.	270;148;930;1356	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	C	930;1356;1356;270;310;148	ENSP00000364549:R930C;ENSP00000364547:R1356C;ENSP00000348128:R1356C;ENSP00000445472:R270C;ENSP00000440343:R148C	ENSP00000348128:R1356C	R	-	1	0	SVIL	29819908	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	6.267000	0.72546	2.110000	0.64415	0.485000	0.47835	CGC		TCGA-IB-7651-01A-11D-2154-08	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	1	0	1	44	210	0	49	1	9.999997e-01	18	96	0	49	2		0	0	0	0	0	2	1	1	43	210	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1462	57608	broad.mit.edu	37	10	30315241	30315241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315241G>A	ENST00000375377.1	-	3	3937	c.3836C>T	c.(3835-3837)gCc>gTc	p.A1279V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462			75					CTGGGAGTCGGCATTCCTGAA	0.632000																								0							SO:0001583	missense			ENST00000375377.1	1	1	hg19	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089268	0.55968	.	.	ENSG00000165757	ENST00000375377	T	0.17528	2.27	5.44	2.35	0.29111	.	0.898410	0.09575	N	0.783702	T	0.25044	0.0608	L	0.59436	1.845	0.09310	N	1	P	0.42296	0.775	B	0.42282	0.382	T	0.27872	-1.0061	10	0.66056	D	0.02	-2.1189	16.3529	0.83224	0.0:0.3723:0.6277:0.0	.	1279	Q9P266	K1462_HUMAN	V	1279	ENSP00000364526:A1279V	ENSP00000364526:A1279V	A	-	2	0	KIAA1462	30355247	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	2.173000	0.42472	0.632000	0.30432	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	0	29	332	0	69	0	9.073401e-01	0	49	0	69	2		0	0	0	0	0	2	1	1	28	325	0	68	2								-2.966611	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.960000	0.650000	1.000000	1.000000	0.918324	0.960000	1	7.900000e-01	1
KIAA1462	57608	broad.mit.edu	37	10	30315768	30315768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315768G>A	ENST00000375377.1	-	3	3410	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462			75					CCGCTCTCCGGATGCCCGGCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000375377.1	1	1	hg19	CCDS41500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	1	159	515	0	126	0	9.971360e-01	1	30	0	126	2		0	0	0	0	0	2	1	1	156	507	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1462	57608	broad.mit.edu	37	10	30316752	30316752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316752C>T	ENST00000375377.1	-	3	2426	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462			75					CTTTTGGCGTCGGTGCCTGGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000375377.1	1	1	hg19	CCDS41500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	1	105	462	0	93	0	9.985808e-01	1	44	0	93	2		0	0	0	0	0	2	1	1	105	456	0	90	2								-3.318011	1	1	121078	1	31	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1462	57608	broad.mit.edu	37	10	30316881	30316881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316881C>T	ENST00000375377.1	-	3	2297	c.2196G>A	c.(2194-2196)acG>acA	p.T732T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462			75					ATGCTGTGTGCGTCTGAGCTT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000375377.1	1	1	hg19	CCDS41500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	0	16	264	0	50	0	7.876727e-01	0	50	0	50	2		0	0	0	0	0	2	1	9.999244e-01	15	257	0	50	2								-18.540850	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.690000	0.410000	1.000000	1.000000	0.714352	0.690000	0	5.300000e-01	9.100000e-01
KIAA1462	57608	broad.mit.edu	37	10	30317872	30317872	+	Missense_Mutation	SNP	C	C	T	rs78646257	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317872C>T	ENST00000375377.1	-	3	1306	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462			75					CTGAGGCAAGCGGGGGCTCAC	0.587000																								0							SO:0001583	missense			ENST00000375377.1	1	0	hg19	CCDS41500.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	9.565	1.119386	0.20877	5.13E-4	0.001573	ENSG00000165757	ENST00000375377	T	0.12039	2.72	5.28	-1.06	0.10002	.	1.047670	0.07427	N	0.895065	T	0.06462	0.0166	L	0.41236	1.265	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.42965	-0.9420	10	0.13853	T	0.58	-0.674	4.8785	0.13668	0.1576:0.29:0.0:0.5523	.	402	Q9P266	K1462_HUMAN	H	402	ENSP00000364526:R402H	ENSP00000364526:R402H	R	-	2	0	KIAA1462	30357878	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.357000	0.07651	-0.251000	0.09542	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	1	0	1	133	550	0	135	0	9.837876e-01	0	29	0	135	2		0	0	0	0	0	2	1	1	130	540	0	132	2								-3.195504	1	1	120882	119	54	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTPAP	55149	broad.mit.edu	37	10	30611535	30611535	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30611535G>A	ENST00000263063.4	-	6	1047	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.T465I	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase			33					TTCGGAACTTGTCAAGGCAAT	0.373000																								0							SO:0001583	missense			ENST00000263063.4	1	1	hg19	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799941	0.31869	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.40225	1.04;1.04	5.66	3.33	0.38152	.	0.249755	0.45867	D	0.000323	T	0.19248	0.0462	N	0.08118	0	0.29088	N	0.882245	P;B	0.45011	0.848;0.004	B;B	0.41646	0.362;0.002	T	0.05616	-1.0874	10	0.23891	T	0.37	-24.4344	4.2878	0.10863	0.0:0.2656:0.1765:0.5579	.	465;335	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	I	465;335	ENSP00000350820:T465I;ENSP00000263063:T335I	ENSP00000263063:T335I	T	-	2	0	MTPAP	30651541	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.778000	0.26732	0.509000	0.28195	-0.493000	0.04662	ACA		TCGA-IB-7651-01A-11D-2154-08	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	1	0	0	35	119	0	27	1	9.999080e-01	10	43	0	27	2		0	0	0	0	0	2	1	1	35	118	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTPAP	55149	broad.mit.edu	37	10	30615489	30615489	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30615489A>G	ENST00000263063.4	-	5	899	c.856T>C	c.(856-858)Tct>Cct	p.S286P	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.S416P	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase			33					CCTAACACAGACAGGATCTTC	0.423000																								0							SO:0001583	missense			ENST00000263063.4	0	1	hg19	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828915	0.90955	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.84846	2.72	0.58432	D	0.999999	D;P	0.89917	1.0;0.835	D;P	0.72338	0.977;0.616	T	0.70008	-0.4990	10	0.39692	T	0.17	-23.4236	15.3308	0.74208	1.0:0.0:0.0:0.0	.	416;286	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	P	416;286	ENSP00000350820:S416P;ENSP00000263063:S286P	ENSP00000263063:S286P	S	-	1	0	MTPAP	30655495	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.004000	0.70709	2.083000	0.62718	0.383000	0.25322	TCT		TCGA-IB-7651-01A-11D-2154-08	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	0	0	0	12	841	0	167	1	1.522834e-01	2	43	0	167	2		0	0	0	0	0	2	1	9.990200e-01	12	827	0	165	2								-3.143559	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.170000	0.080000	1.000000	0.170000	0.224725	0.170000	0	1.200000e-01	2.400000e-01
MTPAP	55149	broad.mit.edu	37	10	30629378	30629378	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30629378C>T	ENST00000263063.4	-	3	375	c.332G>A	c.(331-333)gGt>gAt	p.G111D	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Splice_Site_p.G241D	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase			33					AGCATAGAGACCCTATACCAA	0.353000																								0							SO:0001630	splice_region_variant			ENST00000263063.4	1	0	hg19	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440161	0.83993	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581;ENST00000421701	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.952	T	0.47209	-0.9135	10	0.16420	T	0.52	-19.6079	18.5135	0.90926	0.0:1.0:0.0:0.0	.	73;241;111	Q5T851;Q9NVV4-2;Q9NVV4	.;.;PAPD1_HUMAN	D	241;111;46;73	ENSP00000350820:G241D;ENSP00000263063:G111D;ENSP00000404392:G46D;ENSP00000394118:G73D	ENSP00000263063:G111D	G	-	2	0	MTPAP	30669384	1.000000	0.71417	0.994000	0.49952	0.886000	0.51366	6.292000	0.72725	2.431000	0.82371	0.591000	0.81541	GGT		TCGA-IB-7651-01A-11D-2154-08	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	1	0	1	60	313	0	71	1	9.937626e-01	15	28	0	71	2		0	0	0	0	0	2	1	1	60	308	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K8	1326	broad.mit.edu	37	10	30747153	30747153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30747153C>T	ENST00000263056.1	+	7	1710	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	MAP3K8_ENST00000375321.1_Silent_p.S338S|MAP3K8_ENST00000542547.1_Silent_p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8			23		Prostate(175;0.151)			CCTATCCCTCCTACCTGTACA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000263056.1	1	1	hg19	CCDS7166.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	1	0	0	19	206	0	52	0	8.538284e-01	1	39	0	52	2		0	0	0	0	0	2	1	9.999900e-01	19	200	0	51	2								-19.999990	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.630000	1.000000	1.000000	0.928563	0.990000	1	8.000000e-01	1
ZNF438	220929	broad.mit.edu	37	10	31138175	31138175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31138175G>A	ENST00000361310.3	-	6	1488	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	ZNF438_ENST00000538351.2_Missense_Mutation_p.R338W|ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000375311.1_De_novo_Start_OutOfFrame|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438			35		Prostate(175;0.0587)			GGTACCTTCCGTTTTCTTCCT	0.388000																								0							SO:0001583	missense			ENST00000361310.3	1	0	hg19	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	6.803	0.517255	0.13005	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.73	1.75	0.24633	.	0.248451	0.45867	N	0.000325	T	0.07188	0.0182	L	0.34521	1.04	0.37336	D	0.910175	P;P	0.41710	0.647;0.76	B;B	0.32533	0.07;0.147	T	0.37865	-0.9687	10	0.42905	T	0.14	-7.1085	4.2712	0.10787	0.2313:0.0:0.3906:0.3781	.	387;377	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	W	377;387;387;387;387;377;377;338;106	ENSP00000333571:R377W;ENSP00000354663:R387W;ENSP00000406934:R387W;ENSP00000412363:R387W;ENSP00000387546:R387W;ENSP00000413060:R377W;ENSP00000410898:R377W;ENSP00000445461:R338W	ENSP00000333571:R377W	R	-	1	2	ZNF438	31178181	0.985000	0.35326	0.003000	0.11579	0.048000	0.14542	2.098000	0.41757	0.063000	0.16370	-0.133000	0.14855	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	1	0	1	119	511	0	81	1	9.999313e-01	8	53	0	81	2		0	0	0	0	0	2	1	1	116	502	0	80	2								-3.446191	1	1	121412	10	43	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZEB1	6935	broad.mit.edu	37	10	31810297	31810297	+	Missense_Mutation	SNP	A	A	C	rs146821579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31810297A>C	ENST00000320985.10	+	7	2144	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	ZEB1_ENST00000446923.2_Missense_Mutation_p.Q662H|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1			77		Prostate(175;0.0156)			TAAATCTACAAAGTCCTTTGA	0.448000													Ovarian(40;423 959 14296 36701 49589)											0							SO:0001583	missense			ENST00000320985.10	1	1	hg19	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	4.696	0.129452	0.08981	0.0	1.16E-4	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12672	2.97;2.66;2.71;2.66;2.71	5.34	-6.03	0.02185	.	1.439760	0.04244	N	0.337441	T	0.18923	0.0454	L	0.51422	1.61	0.24957	N	0.991758	P;P;P;P;P;P;P;P	0.44478	0.836;0.755;0.761;0.761;0.641;0.748;0.761;0.761	P;P;B;B;B;B;B;B	0.47102	0.537;0.465;0.275;0.275;0.275;0.308;0.275;0.275	T	0.45131	-0.9282	10	0.62326	D	0.03	-3.8958	12.1316	0.53946	0.7633:0.0:0.1351:0.1016	.	611;678;662;678;678;658;679;678	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	460;678;679;678;611;678;658;537;569;662	ENSP00000444282:Q460H;ENSP00000354487:Q679H;ENSP00000444891:Q611H;ENSP00000319248:Q678H;ENSP00000391612:Q662H	ENSP00000319248:Q678H	Q	+	3	2	ZEB1	31850303	0.000000	0.05858	0.009000	0.14445	0.215000	0.24574	-1.025000	0.03600	-1.292000	0.02366	-0.242000	0.12053	CAA		TCGA-IB-7651-01A-11D-2154-08	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	1	0	1	60	265	0	42	1	1	3	186	0	42	2		0	0	0	0	0	2	1	1	59	262	0	42	2								-20.000000	1	1	121400	1	37	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZEB1	6935	broad.mit.edu	37	10	31815766	31815766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31815766C>T	ENST00000320985.10	+	9	3059	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y	ZEB1_ENST00000446923.2_Silent_p.Y967Y|ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000361642.5_Silent_p.Y984Y|ZEB1_ENST00000542815.3_Silent_p.Y916Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1			77		Prostate(175;0.0156)			ATCATCGCTACTCCTACTGTA	0.498000													Ovarian(40;423 959 14296 36701 49589)											0							SO:0001819	synonymous_variant			ENST00000320985.10	1	1	hg19	CCDS7169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	1	0	1	62	222	0	64	1	1	7	142	0	64	2		0	0	0	0	0	2	1	1	60	218	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITRM1	10531	broad.mit.edu	37	10	3189841	3189841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3189841G>A	ENST00000224949.4	-	19	2192	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Silent_p.L721L|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.L278L|PITRM1_ENST00000451104.2_Silent_p.L622L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1			33					GATGCGTACAGGTGCCCAGAG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000224949.4	1	1	hg19	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	0.707	-0.788759	0.02884	.	.	ENSG00000107959	ENST00000451454	.	.	.	5.69	-0.0268	0.13929	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.28860	N	0.895545	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	.	0.1444	0.00087	0.2899:0.2552:0.2051:0.2499	.	.	.	.	L	53	.	.	P	-	2	0	PITRM1	3179841	0.855000	0.29742	0.305000	0.25099	0.020000	0.10135	-0.105000	0.10907	0.337000	0.23665	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2	1	0	1	61	656	0	116	1	9.983514e-01	12	91	0	116	2		0	0	0	0	0	2	1	1	61	649	0	114	2								-2.966611	1	1	120892	2	37	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.780000	1.000000	1.000000	0.960088	0.990000	1	8.900000e-01	1
PITRM1	10531	broad.mit.edu	37	10	3191914	3191914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3191914C>T	ENST00000224949.4	-	16	1804	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	PITRM1_ENST00000464395.1_5'Flank|PITRM1_ENST00000380989.2_Silent_p.Q590Q|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Q148Q|PITRM1_ENST00000451104.2_Silent_p.Q558Q			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1			33					CATTGGTGGGCTGGGCGCAGT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000224949.4	1	1	hg19	CCDS59208.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2	0	0	0	118	569	0	146	1	9.999999e-01	28	86	0	146	2		0	0	0	0	0	2	1	1	116	557	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITRM1	10531	broad.mit.edu	37	10	3205979	3205979	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3205979C>T	ENST00000224949.4	-	7	763	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PITRM1_ENST00000380989.2_Silent_p.P243P|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Silent_p.P211P			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1			33					ATGTAAGCTCCGGGATGCACA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000224949.4	1	1	hg19	CCDS59208.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2	1	0	1	67	314	0	109	1	1	23	102	0	109	2		0	0	0	0	0	2	1	1	67	313	0	107	2								-2.637208	1	0	120880	1	34	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITRM1	10531	broad.mit.edu	37	10	3206051	3206051	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3206051C>A	ENST00000224949.4	-	7	691	c.657G>T	c.(655-657)caG>caT	p.Q219H	PITRM1_ENST00000380989.2_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1			33					TCTGAAGGTGCTGGGAGAATA	0.423000																								0							SO:0001583	missense			ENST00000224949.4	1	1	hg19	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.386149	0.61956	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.33438	1.41;1.41;1.41	5.7	5.7	0.88788	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.49455	1.56	0.80722	D	1	B;B;B;B;B;B	0.28880	0.092;0.102;0.18;0.113;0.113;0.226	B;B;B;B;B;B	0.32211	0.017;0.043;0.142;0.067;0.067;0.106	T	0.06006	-1.0851	10	0.19590	T	0.45	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	212;187;219;219;219;212	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	H	219;212;219;187	ENSP00000224949:Q219H;ENSP00000370377:Q219H;ENSP00000401201:Q187H	ENSP00000224949:Q219H	Q	-	3	2	PITRM1	3196051	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	2.273000	0.43381	2.698000	0.92095	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2	1	0	1	44	174	0	63	1	9.999963e-01	23	56	0	63	2		0	0	0	0	0	2	1	1	44	174	0	61	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP12	94134	broad.mit.edu	37	10	32099638	32099638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32099638C>A	ENST00000344936.2	-	16	2223	c.1989G>T	c.(1987-1989)caG>caT	p.Q663H	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.Q633H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12			31		Prostate(175;0.0199)			CATTCTCTCTCTGACACAGAT	0.323000																								0							SO:0001583	missense			ENST00000344936.2	1	1	hg19	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832659	0.32421	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.55	3.68	0.42216	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.054607	0.85682	D	0.000000	T	0.31263	0.0791	L	0.31926	0.97	0.53688	D	0.999977	B;B;B;B;B	0.31752	0.124;0.095;0.228;0.228;0.338	B;B;B;B;B	0.30029	0.052;0.056;0.051;0.051;0.11	T	0.12760	-1.0535	10	0.87932	D	0	.	10.4217	0.44354	0.0:0.7548:0.0:0.2452	.	616;633;658;663;611	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;RHG12_HUMAN;.	H	611;633;663;658;611	ENSP00000310984:Q611H;ENSP00000364399:Q633H;ENSP00000345808:Q663H;ENSP00000379448:Q658H;ENSP00000364394:Q611H	ENSP00000310984:Q611H	Q	-	3	2	ARHGAP12	32139644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.987000	0.29603	0.724000	0.32296	-1.151000	0.01829	CAG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1	1	0	1	45	296	0	110	1	9.999162e-01	17	77	0	110	2		0	0	0	0	0	2	1	1	45	290	0	108	2								-3.076019	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999930	0.990000	1	9.900000e-01	1
KIF5B	3799	broad.mit.edu	37	10	32320176	32320176	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32320176T>C	ENST00000302418.4	-	14	1863	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B		KIF5B/ALK(8)|KIF5B/RET(79)	35		Prostate(175;0.0137)			AGCTTGCATATTGTCTTGATC	0.373000			T	RET, ALK	NSCLC										Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0							SO:0001583	missense			ENST00000302418.4	1	1	hg19	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862708	0.32884	.	.	ENSG00000170759	ENST00000302418	D	0.84660	-1.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	L	0.38175	1.15	0.37600	D	0.920517	B	0.12013	0.005	B	0.12156	0.007	T	0.75792	-0.3193	10	0.19590	T	0.45	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	469	P33176	KINH_HUMAN	S	469	ENSP00000307078:N469S	ENSP00000307078:N469S	N	-	2	0	KIF5B	32360182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.286000	0.51724	2.371000	0.80710	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	1	0	1	35	200	0	25	1	1	77	285	0	25	2		0	0	0	0	0	2	1	1	35	199	0	25	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
EPC1	80314	broad.mit.edu	37	10	32560500	32560500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560500G>T	ENST00000263062.8	-	14	2689	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.S784Y	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)			24		Prostate(175;0.0199)			TGAATCTACAGAGGATGAAGA	0.428000																								0							SO:0001583	missense			ENST00000263062.8	1	1	hg19	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.277662	0.59758	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	4.79	4.79	0.61399	.	0.370006	0.31290	N	0.007906	T	0.61714	0.2369	L	0.40543	1.245	0.33429	D	0.580917	D;D;P	0.61080	0.987;0.989;0.956	P;P;P	0.58391	0.838;0.655;0.828	T	0.73445	-0.3980	9	0.87932	D	0	-2.4986	17.8998	0.88900	0.0:0.0:1.0:0.0	.	734;784;807	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	Y	734;784;807	.	ENSP00000263062:S807Y	S	-	2	0	EPC1	32600506	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	6.040000	0.70980	2.214000	0.71695	0.299000	0.19835	TCT		TCGA-IB-7651-01A-11D-2154-08	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1	1	0	1	144	651	0	187	1	9.999997e-01	22	73	0	187	2		0	0	0	0	0	2	1	1	144	642	0	185	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPC1	80314	broad.mit.edu	37	10	32560597	32560597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560597G>A	ENST00000263062.8	-	14	2592	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000319778.6_Nonsense_Mutation_p.R752*	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)			24		Prostate(175;0.0199)			GGTATATGTCGTGCATTTATT	0.443000																								0							SO:0001587	stop_gained			ENST00000263062.8	0	1	hg19	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	42	9.302857	0.99130	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.24	5.24	0.73138	.	0.247523	0.41001	D	0.000976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.3252	18.8808	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	702;752;775	.	ENSP00000263062:R775X	R	-	1	2	EPC1	32600603	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.245000	0.72398	2.442000	0.82660	0.306000	0.20318	CGA		TCGA-IB-7651-01A-11D-2154-08	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1	1	0	0	172	818	0	192	1	9.999741e-01	14	58	0	192	2		0	0	0	0	0	2	1	1	172	807	0	192	2								-20.000000	1	0	121412	1	35	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPC1	80314	broad.mit.edu	37	10	32635840	32635840	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32635840T>C	ENST00000263062.8	-	1	273	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	EPC1_ENST00000480402.1_5'UTR|RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000375110.2_Intron|EPC1_ENST00000319778.6_Missense_Mutation_p.S2G|AL391839.1_ENST00000410377.1_RNA|RP11-135A24.2_ENST00000417447.1_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)			24		Prostate(175;0.0199)			GACAGTTTACTCATCTCAGGC	0.642000																								0							SO:0001583	missense			ENST00000263062.8	1	1	hg19	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967458	0.92855	.	.	ENSG00000120616	ENST00000319778;ENST00000263062	.	.	.	4.7	4.7	0.59300	.	0.087777	0.85682	D	0.000000	T	0.76414	0.3984	M	0.66939	2.045	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.907	T	0.79412	-0.1814	9	0.87932	D	0	-8.3521	13.3215	0.60436	0.0:0.0:0.0:1.0	.	2;2	Q9H2F5-2;Q9H2F5	.;EPC1_HUMAN	G	2	.	ENSP00000263062:S2G	S	-	1	0	EPC1	32675846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.945000	0.75947	1.739000	0.51704	0.418000	0.28097	AGT		TCGA-IB-7651-01A-11D-2154-08	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1	1	0	0	61	241	0	61	1	9.830824e-01	9	19	0	61	2		0	0	0	0	0	2	1	1	61	239	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf68	0	broad.mit.edu	37	10	32978017	32978017	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32978017G>T	ENST00000375030.2	+	8	833	c.215G>T	c.(214-216)aGg>aTg	p.R72M	C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M|C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M			Q9H943	CJ068_HUMAN				29					CTTATACTTAGGCATCAAGAC	0.299000																								0							SO:0001583	missense			ENST00000375030.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	.	10.87	1.471352	0.26423	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.33865	1.43;1.39;1.7;1.41	3.42	-0.376	0.12505	.	.	.	.	.	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	1	B;B;P	0.35411	0.282;0.282;0.5	B;B;B	0.34931	0.126;0.126;0.192	T	0.17410	-1.0370	9	0.54805	T	0.06	.	3.1615	0.06522	0.5187:0.2197:0.2616:0.0	.	64;78;72	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	M	64;72;78;64;50	ENSP00000303710:R64M;ENSP00000364170:R72M;ENSP00000364168:R78M;ENSP00000364165:R64M	ENSP00000303710:R64M	R	+	2	0	C10orf68	33018023	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.508000	0.06344	-0.078000	0.12730	-0.350000	0.07774	AGG		TCGA-IB-7651-01A-11D-2154-08	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2	1	0	1	33	142	0	38	0	3.777058e-02	1	1	0	38	2		0	0	0	0	0	2	1	1	33	140	0	38	2								-3.527027	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C10orf68	0	broad.mit.edu	37	10	32983848	32983848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32983848C>T	ENST00000375030.2	+	9	949	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*			Q9H943	CJ068_HUMAN				29					GCTTGAACATCAAGATTCAGT	0.318000																								0							SO:0001587	stop_gained			ENST00000375030.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	.	21.5	4.154936	0.78114	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375025	.	.	.	2.91	-0.495	0.12030	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	5.0702	0.14602	0.4208:0.3728:0.2064:0.0	.	.	.	.	X	103;111;103	.	ENSP00000303710:Q103X	Q	+	1	0	C10orf68	33023854	0.014000	0.17966	0.001000	0.08648	0.028000	0.11728	0.956000	0.29202	-0.100000	0.12241	0.467000	0.42956	CAA		TCGA-IB-7651-01A-11D-2154-08	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2	1	0	1	24	107	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.999999e-01	25	106	0	34	2								-3.406604	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
C10orf68	0	broad.mit.edu	37	10	33113457	33113457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33113457C>T	ENST00000375028.3	+	11	1004	c.934C>T	c.(934-936)Cga>Tga	p.R312*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN				29					GACTGATGAACGATTGCATAG	0.284000																								0							SO:0001587	stop_gained			ENST00000375028.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	.	16.79	3.219350	0.58560	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	2.06	0.0262	0.14149	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3043	0.06994	0.0:0.5489:0.2756:0.1754	.	.	.	.	X	336;312;372;284	.	ENSP00000303710:R336X	R	+	1	2	C10orf68	33153463	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.988000	0.01482	0.021000	0.15133	0.305000	0.20034	CGA		TCGA-IB-7651-01A-11D-2154-08	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2	1	0	1	52	240	0	84	0	8.673376e-02	0	3	0	84	2		0	0	0	0	0	2	1	1	52	234	0	84	2								-3.408846	1	1	121392	3	34	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf68	0	broad.mit.edu	37	10	33135307	33135307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33135307C>T	ENST00000375030.2	+	18	1832	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I|C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I			Q9H943	CJ068_HUMAN				29					TCTATAGAGACTGATAAAGAA	0.289000																								0							SO:0001583	missense			ENST00000375030.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	.	8.117	0.780115	0.16120	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28895	1.61;1.7;1.59;1.59	2.21	1.27	0.21489	.	.	.	.	.	T	0.44993	0.1320	M	0.62723	1.935	0.09310	N	1	B;B;B;D	0.65815	0.042;0.015;0.137;0.995	B;B;B;D	0.66351	0.019;0.019;0.031;0.943	T	0.17592	-1.0364	9	0.56958	D	0.05	.	6.0096	0.19567	0.307:0.693:0.0:0.0	.	427;446;450;405	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	I	446;405;450;510;422	ENSP00000303710:T446I;ENSP00000364170:T405I;ENSP00000364168:T450I;ENSP00000364165:T510I	ENSP00000303710:T446I	T	+	2	0	C10orf68	33175313	0.000000	0.05858	0.060000	0.19600	0.272000	0.26649	-0.030000	0.12308	0.466000	0.27193	0.453000	0.30009	ACT		TCGA-IB-7651-01A-11D-2154-08	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2	1	0	1	30	177	0	45	0	0	0	1	0	45	2		0	0	0	0	0	2	1	1	30	175	0	45	2								-15.865800	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999878	0.990000	1	9.900000e-01	1
NRP1	8829	broad.mit.edu	37	10	33502412	33502412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33502412G>A	ENST00000265371.4	-	10	2041	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.R325*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*			O14786	NRP1_HUMAN	neuropilin 1			48				Palifermin(DB00039)|Pegaptanib(DB04895)	TTGTTCTCTCGGTGCTTCCCA	0.522000													Melanoma(104;886 1489 44640 45944 51153)											0							SO:0001587	stop_gained			ENST00000265371.4	0	1	hg19	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	44	10.591483	0.99433	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	.	.	.	5.95	2.72	0.32119	.	0.106857	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.8145	15.4444	0.75216	0.0:0.0:0.368:0.632	.	.	.	.	X	506;325;506;506;506;506;506;506;179	.	ENSP00000265371:R506X	R	-	1	2	NRP1	33542418	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.187000	0.42602	0.688000	0.31529	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2	1	0	1	165	735	0	149	0	1	0	419	0	149	2		0	0	0	0	0	2	1	1	162	708	0	149	2								-2.466108	0	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARD3	56288	broad.mit.edu	37	10	34400149	34400149	+	Missense_Mutation	SNP	G	G	A	rs144433754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34400149G>A	ENST00000374789.3	-	25	4344	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator			63		Breast(68;0.0707)			GTTCAGCCTCGCAACCTGAGA	0.542000																								0							SO:0001583	missense			ENST00000374789.3	1	1	hg19	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696904	0.48202	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.17213	2.42;2.32;2.43;2.44;2.35;2.32;2.29;2.38	6.17	6.17	0.99709	.	0.151617	0.64402	D	0.000014	T	0.31796	0.0808	N	0.24115	0.695	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	1.0;0.535;1.0;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D;D	0.85130	0.997;0.049;0.997;0.997;0.997;0.997;0.997;0.994	T	0.01266	-1.1401	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1228;1250;1257;1294;1324;1303;1337;1340	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	V	1324;1250;1340;1337;1303;1228;1294;1280	ENSP00000443147:A1324V;ENSP00000440857:A1250V;ENSP00000363921:A1340V;ENSP00000363920:A1337V;ENSP00000340591:A1303V;ENSP00000363926:A1228V;ENSP00000311986:A1294V;ENSP00000363922:A1280V	ENSP00000340591:A1303V	A	-	2	0	PARD3	34440155	1.000000	0.71417	0.370000	0.25965	0.918000	0.54935	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	1	0	1	72	298	0	74	1	9.713135e-01	7	19	0	74	2		0	0	0	0	0	2	1	1	71	293	0	73	2								-20.000000	1	1	121412	1	37	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARD3	56288	broad.mit.edu	37	10	34420423	34420423	+	Missense_Mutation	SNP	G	G	A	rs149035058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34420423G>A	ENST00000374789.3	-	23	3842	c.3517C>T	c.(3517-3519)Cgt>Tgt	p.R1173C	PARD3_ENST00000545693.1_Missense_Mutation_p.R1157C|PARD3_ENST00000545260.1_Missense_Mutation_p.R1083C|PARD3_ENST00000374794.3_Missense_Mutation_p.R1061C|PARD3_ENST00000374788.3_Missense_Mutation_p.R1170C|PARD3_ENST00000346874.4_Missense_Mutation_p.R1136C|PARD3_ENST00000374790.3_Missense_Mutation_p.R1113C|PARD3_ENST00000350537.4_Missense_Mutation_p.R1127C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator			63		Breast(68;0.0707)			GTCCGCCGACGATCTTCTACA	0.458000																								0							SO:0001583	missense			ENST00000374789.3	1	0	hg19	CCDS7178.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	18.85	3.711558	0.68730	0.001135	0.0	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.20200	2.12;2.09;2.17;2.17;2.27;2.22;2.09;2.11	5.93	4.98	0.66077	.	0.051842	0.85682	D	0.000000	T	0.35624	0.0938	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.97;0.966;0.999;0.999;0.999;0.97;0.999;0.997	T	0.31833	-0.9929	10	0.87932	D	0	.	14.047	0.64710	0.0:0.0:0.6138:0.3861	.	1061;1083;1090;1127;1157;1136;1170;1173	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	C	1157;1083;1173;1170;1136;1061;1127;1113	ENSP00000443147:R1157C;ENSP00000440857:R1083C;ENSP00000363921:R1173C;ENSP00000363920:R1170C;ENSP00000340591:R1136C;ENSP00000363926:R1061C;ENSP00000311986:R1127C;ENSP00000363922:R1113C	ENSP00000340591:R1136C	R	-	1	0	PARD3	34460429	1.000000	0.71417	0.634000	0.29324	0.752000	0.42762	4.226000	0.58606	1.338000	0.45544	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	1	0	0	15	359	0	64	0	7.230379e-01	1	61	0	64	2		0	0	0	0	0	2	1	9.998447e-01	14	348	0	63	2								-4.305019	1	1	121412	19	46	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.490000	0.280000	1.000000	0.460000	0.525278	0.490000	0	3.700000e-01	6.500000e-01
PARD3	56288	broad.mit.edu	37	10	34649102	34649102	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34649102G>T	ENST00000374789.3	-	13	2118	c.1793C>A	c.(1792-1794)tCt>tAt	p.S598Y	PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator			63		Breast(68;0.0707)			AAGGCCTGCAGATCCTGAATC	0.428000																								0							SO:0001583	missense			ENST00000374789.3	0	1	hg19	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632542	0.87660	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.95	5.95	0.96441	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;0.998;0.93;1.0;1.0;0.994;1.0;1.0;0.991	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D	0.97110	0.999;0.991;0.998;0.999;0.998;0.999;0.999;0.99;0.677;0.999;1.0;0.981;0.993;1.0;0.957	T	0.48502	-0.9030	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	541;541;585;585;585;598;598;598;541;585;598;598;585;598;315	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	Y	585;541;598;598;598;541;585;541;585;598;598;315;36	ENSP00000443147:S585Y;ENSP00000440857:S541Y;ENSP00000363921:S598Y;ENSP00000363920:S598Y;ENSP00000340591:S598Y;ENSP00000363926:S541Y;ENSP00000311986:S585Y;ENSP00000363922:S541Y;ENSP00000363908:S585Y;ENSP00000341844:S598Y;ENSP00000363905:S598Y;ENSP00000444429:S315Y;ENSP00000363900:S36Y	ENSP00000341844:S598Y	S	-	2	0	PARD3	34689108	1.000000	0.71417	0.982000	0.44146	0.601000	0.36947	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	0	0	0	9	526	0	96	1	8.542668e-01	17	188	0	96	2		0	0	0	0	0	2	1	9.938825e-01	9	518	0	96	2								-2.896929	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.210000	0.100000	1.000000	0.190000	0.262020	0.210000	0	1.400000e-01	3.100000e-01
PARD3	56288	broad.mit.edu	37	10	34985290	34985290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34985290C>T	ENST00000374789.3	-	2	503	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator			63		Breast(68;0.0707)			TCATCAAGGTCTAGTATTCCT	0.408000																								0							SO:0001583	missense			ENST00000374789.3	1	1	hg19	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732192	0.89482	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.66	4.76	0.60689	.	0.102022	0.64402	D	0.000004	T	0.80660	0.4665	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;P;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.892;0.996;0.998;0.996;0.999;0.999;0.997;0.999;0.999;0.994	D	0.84184	0.0441	10	0.87932	D	0	.	15.5948	0.76569	0.0:0.8615:0.1384:0.0	.	60;60;60;60;60;60;60;60;60;60;60	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	N	60	ENSP00000443147:D60N;ENSP00000440857:D60N;ENSP00000363921:D60N;ENSP00000363920:D60N;ENSP00000340591:D60N;ENSP00000363926:D60N;ENSP00000311986:D60N;ENSP00000363922:D60N;ENSP00000363908:D60N;ENSP00000341844:D60N;ENSP00000363905:D60N	ENSP00000341844:D60N	D	-	1	0	PARD3	35025296	1.000000	0.71417	0.172000	0.22920	0.872000	0.50106	7.336000	0.79245	1.377000	0.46286	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	1	0	1	155	824	0	219	1	9.993367e-01	14	44	0	219	2		0	0	0	0	0	2	1	1	150	809	0	216	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNY	219771	broad.mit.edu	37	10	35841947	35841947	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35841947G>A	ENST00000374704.4	+	8	760	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CCNY_ENST00000339497.5_Splice_Site_p.V169M|CCNY_ENST00000374706.1_Splice_Site_p.V140M|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Splice_Site_p.V140M	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y			8					GTCTTCCCAGGTGTACCTTGA	0.438000																								0							SO:0001630	splice_region_variant			ENST00000374704.4	1	0	hg19	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242475	0.95272	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.052937	0.85682	D	0.000000	D	0.95937	0.8677	M	0.92784	3.345	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.72338	0.966;0.962;0.977	D	0.96513	0.9380	9	.	.	.	-0.383	19.3632	0.94451	0.0:0.0:1.0:0.0	.	61;169;194	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	M	140;194;194;169;140;61	ENSP00000363838:V140M;ENSP00000363836:V194M;ENSP00000344275:V169M;ENSP00000265375:V140M	.	V	+	1	0	CCNY	35881953	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	1	0	1	81	337	0	89	1	1	51	177	0	89	2		0	0	0	0	0	2	1	1	81	333	0	89	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNY	219771	broad.mit.edu	37	10	35842011	35842011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35842011T>C	ENST00000374704.4	+	8	824	c.644T>C	c.(643-645)aTt>aCt	p.I215T	CCNY_ENST00000339497.5_Missense_Mutation_p.I190T|CCNY_ENST00000374706.1_Missense_Mutation_p.I161T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y			8					TGGAAGCGGATTGTTTTAGGG	0.493000																								0							SO:0001583	missense			ENST00000374704.4	1	1	hg19	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797952	0.70567	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.046078	0.85682	D	0.000000	T	0.44414	0.1292	M	0.91972	3.26	0.80722	D	1	D;P;P	0.52996	0.957;0.837;0.866	P;P;P	0.62298	0.9;0.71;0.665	T	0.56414	-0.7983	10	0.87932	D	0	0.0576	15.5752	0.76373	0.0:0.0:0.0:1.0	.	82;190;215	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	T	161;215;215;190;161;82	ENSP00000363838:I161T;ENSP00000363836:I215T;ENSP00000344275:I190T;ENSP00000265375:I161T	ENSP00000265375:I161T	I	+	2	0	CCNY	35882017	1.000000	0.71417	0.960000	0.40013	0.883000	0.51084	7.965000	0.87945	2.142000	0.66516	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	1	0	1	107	409	0	118	1	1	56	232	0	118	2		0	0	0	0	0	2	1	1	105	403	0	117	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GJD4	219770	broad.mit.edu	37	10	35896742	35896742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35896742G>A	ENST00000321660.1	+	2	459	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa			16					GCACCGAGGAGCCACGCTCGC	0.746000																								0							SO:0001583	missense			ENST00000321660.1	1	1	hg19	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594813	0.46318	.	.	ENSG00000177291	ENST00000321660	D	0.97752	-4.52	6.11	-0.15	0.13416	.	0.885835	0.10230	N	0.699820	D	0.94522	0.8236	L	0.60067	1.865	0.09310	N	1	B	0.32324	0.364	B	0.27170	0.077	D	0.87133	0.2198	10	0.34782	T	0.22	.	4.7058	0.12849	0.2524:0.0:0.5118:0.2359	.	101	Q96KN9	CXD4_HUMAN	T	101	ENSP00000315070:A101T	ENSP00000315070:A101T	A	+	1	0	GJD4	35936748	0.035000	0.19736	0.000000	0.03702	0.013000	0.08279	1.566000	0.36396	-0.280000	0.09154	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	1	0	0	67	293	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	65	282	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GJD4	219770	broad.mit.edu	37	10	35897020	35897020	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35897020G>T	ENST00000321660.1	+	2	737	c.579G>T	c.(577-579)gaG>gaT	p.E193D	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa			16					GGCCCACAGAGAAGTCCCTGC	0.647000																								0							SO:0001583	missense			ENST00000321660.1	1	1	hg19	CCDS7191.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870359	0.72065	.	.	ENSG00000177291	ENST00000321660	D	0.99186	-5.53	5.62	0.847	0.18961	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	H	0.96365	3.81	0.47584	D	0.999468	D	0.89917	1.0	D	0.87578	0.998	D	0.99727	1.1011	10	0.87932	D	0	.	10.5625	0.45154	0.3987:0.0:0.6013:0.0	.	193	Q96KN9	CXD4_HUMAN	D	193	ENSP00000315070:E193D	ENSP00000315070:E193D	E	+	3	2	GJD4	35937026	1.000000	0.71417	0.993000	0.49108	0.629000	0.37895	1.855000	0.39378	0.056000	0.16144	-0.469000	0.05056	GAG		TCGA-IB-7651-01A-11D-2154-08	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047576.1	1	0	0	16	136	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999438e-01	16	134	0	25	2								-19.999920	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.750000	1.000000	1.000000	0.978681	0.990000	1	9.800000e-01	1
FZD8	8325	broad.mit.edu	37	10	35929026	35929026	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929026G>A	ENST00000374694.1	-	1	1336	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8			11					CAAGCCACGCGGCCAGGTGGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000374694.1	0	1	hg19	CCDS7192.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	1	0	0	7	147	0	29	0	6.303977e-01	1	43	0	29	2		0	0	0	0	0	2	1	9.795275e-01	7	143	0	27	2								-10.531580	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.570000	0.250000	1.000000	1.000000	0.607630	0.570000	0	3.900000e-01	8.400000e-01
FZD8	8325	broad.mit.edu	37	10	35929686	35929686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929686G>A	ENST00000374694.1	-	1	676	c.672C>T	c.(670-672)ggC>ggT	p.G224G	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8			11					AGGGAGCCGCGCCGCCGCCAG	0.806000																								0							SO:0001819	synonymous_variant			ENST00000374694.1	0	1	hg19	CCDS7192.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	1	0	0	12	88	0	12	0	0	0	1	0	12	2		0	0	0	0	0	2	1	9.988609e-01	11	81	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.790000	1.000000	1.000000	0.985874	0.990000	1	9.900000e-01	1
ANKRD30A	91074	broad.mit.edu	37	10	37441021	37441021	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37441021A>G	ENST00000602533.1	+	12	1610	c.1511A>G	c.(1510-1512)gAc>gGc	p.D504G	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A			158					AAACAAAAGGACTATGAAGAA	0.299000																								0							SO:0001583	missense			ENST00000602533.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	.	11.34	1.611090	0.28712	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07114	3.22;3.22	1.71	1.71	0.24356	.	.	.	.	.	T	0.13586	0.0329	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.15636	-1.0430	9	0.49607	T	0.09	.	5.5239	0.16947	1.0:0.0:0.0:0.0	.	560	Q9BXX3	AN30A_HUMAN	G	504	ENSP00000354432:D504G;ENSP00000363792:D504G	ENSP00000354432:D504G	D	+	2	0	ANKRD30A	37481027	0.097000	0.21791	0.130000	0.21974	0.004000	0.04260	0.505000	0.22642	1.038000	0.40049	0.315000	0.21342	GAC		TCGA-IB-7651-01A-11D-2154-08	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	1	0	1	41	193	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	41	192	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD30A	91074	broad.mit.edu	37	10	37486234	37486234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37486234C>T	ENST00000602533.1	+	28	2571	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	ANKRD30A_ENST00000374660.1_Silent_p.F943F|ANKRD30A_ENST00000361713.1_Silent_p.F824F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	p.F824F(1)		158					CATCTGCCTTCGAGGTATTTA	0.328000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000602533.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	1	0	0	64	671	0	193		0	0	0	0	193	2		0	0	0	0	0	2	1	1	62	621	0	191	2								-15.792990	1	1	120786	5	41	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.969647	0.990000	1	9.100000e-01	1
KLF6	1316	broad.mit.edu	37	10	3823892	3823892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3823892C>T	ENST00000497571.1	-	2	877	c.617G>A	c.(616-618)gGc>gAc	p.G206D	KLF6_ENST00000469435.1_Missense_Mutation_p.G206D|KLF6_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000173785.4_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6			16					TTTCCTGCAGCCGTTAAAGTG	0.657000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000497571.1	1	1	hg19	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497189	0.85069	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.76839	1.31;-1.05;-1.05	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.97110	1.0;1.0;0.757	D	0.83488	0.0068	10	0.56958	D	0.05	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	206;206;206	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	D	206	ENSP00000419923:G206D;ENSP00000445301:G206D;ENSP00000419079:G206D	ENSP00000419079:G206D	G	-	2	0	KLF6	3813892	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.711000	0.84669	2.194000	0.70268	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1	1	0	1	64	284	0	56	1	1	118	270	0	56	2		0	0	0	0	0	2	1	1	62	279	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF25	219749	broad.mit.edu	37	10	38241882	38241882	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38241882T>G	ENST00000302609.7	-	6	756	c.544A>C	c.(544-546)Ata>Cta	p.I182L	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25			28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)			TGGTAAAATATTTTCTTACAT	0.353000																								0							SO:0001583	missense			ENST00000302609.7	0	1	hg19	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736628	0.30774	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.14391	2.51	4.84	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.537430	0.15831	N	0.242506	T	0.05364	0.0142	N	0.02225	-0.63	0.09310	N	0.999999	B	0.17465	0.022	B	0.14023	0.01	T	0.28299	-1.0048	10	0.87932	D	0	-8.0E-4	5.7583	0.18186	0.1691:0.0:0.1763:0.6547	.	182	P17030	ZNF25_HUMAN	L	182;146	ENSP00000302222:I182L	ENSP00000302222:I182L	I	-	1	0	ZNF25	38281888	0.001000	0.12720	0.866000	0.34008	0.960000	0.62799	-0.177000	0.09796	0.960000	0.38005	0.524000	0.50904	ATA		TCGA-IB-7651-01A-11D-2154-08	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	0	0	0	11	732	0	134	0	1.277557e-01	0	38	0	134	2		0	0	0	0	0	2	1	9.981146e-01	11	716	0	132	2								-8.377095	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.180000	0.090000	1.000000	0.170000	0.234610	0.180000	0	1.300000e-01	2.600000e-01
ZNF33A	7581	broad.mit.edu	37	10	38343685	38343685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38343685G>T	ENST00000458705.2	+	5	788	c.630G>T	c.(628-630)aaG>aaT	p.K210N	ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.K211N|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N			Q06730	ZN33A_HUMAN	zinc finger protein 33A			46					AGCATGAGAAGATTCAAACTT	0.358000																								0							SO:0001583	missense			ENST00000458705.2	1	1	hg19	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042204	0.35989	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.07327	3.2;3.23;3.23;3.23	2.26	0.11	0.14611	.	0.000000	0.34133	N	0.004228	T	0.10078	0.0247	L	0.58810	1.83	0.09310	N	1	P;P;B	0.49635	0.86;0.926;0.051	P;P;B	0.47075	0.536;0.454;0.067	T	0.13415	-1.0510	10	0.87932	D	0	.	4.2204	0.10554	0.1641:0.4812:0.3547:0.0	.	217;210;211	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	N	211;217;210;210	ENSP00000363747:K211N;ENSP00000402467:K217N;ENSP00000387713:K210N;ENSP00000304268:K210N	ENSP00000304268:K210N	K	+	3	2	ZNF33A	38383691	0.000000	0.05858	0.426000	0.26672	0.225000	0.24961	0.698000	0.25571	0.219000	0.20840	0.460000	0.39030	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	1	0	1	63	364	0	80	1	9.800782e-01	12	26	0	80	2		0	0	0	0	0	2	1	1	62	356	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF33A	7581	broad.mit.edu	37	10	38344716	38344716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38344716G>A	ENST00000458705.2	+	5	1819	c.1661G>A	c.(1660-1662)tGt>tAt	p.C554Y	ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.C555Y|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y			Q06730	ZN33A_HUMAN	zinc finger protein 33A			46					CCCTTTGCATGTCCCGAATGT	0.428000																								0							SO:0001583	missense			ENST00000458705.2	1	1	hg19	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624374	0.28889	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001464	D	0.91449	0.7301	M	0.87038	2.855	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.933	T	0.82596	-0.0379	10	0.87932	D	0	.	8.8786	0.35360	0.0:0.0:1.0:0.0	.	561;554;555	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	555;561;554;554	ENSP00000363747:C555Y;ENSP00000402467:C561Y;ENSP00000387713:C554Y;ENSP00000304268:C554Y	ENSP00000304268:C554Y	C	+	2	0	ZNF33A	38384722	1.000000	0.71417	0.992000	0.48379	0.694000	0.40290	8.253000	0.89842	0.897000	0.36392	0.305000	0.20034	TGT		TCGA-IB-7651-01A-11D-2154-08	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	1	0	1	135	506	0	117	1	9.979118e-01	7	30	0	117	2		0	0	0	0	0	2	1	1	132	497	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF37A	7587	broad.mit.edu	37	10	38403694	38403694	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38403694G>A	ENST00000361085.5	+	5	372	c.27G>A	c.(25-27)tcG>tcA	p.S9S	ZNF37A_ENST00000351773.3_Silent_p.S9S|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A			28					GATCAGTGTCGTTTAGGGATG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000361085.5	1	1	hg19	CCDS31183.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	1	0	1	106	450	0	114	1	9.890869e-01	5	27	0	114	2		0	0	0	0	0	2	1	1	103	442	0	112	2								-20.000000	1	1	121400	7	43	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF37A	7587	broad.mit.edu	37	10	38406336	38406336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38406336G>T	ENST00000361085.5	+	7	602	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R86I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	p.R86I(2)		28					AATACCAGTAGAAACTATTCA	0.308000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000361085.5	1	1	hg19	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	5.320	0.244418	0.10077	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.04	-0.00378	0.14025	.	.	.	.	.	T	0.07098	0.0180	L	0.42529	1.33	0.19775	N	0.999958	B	0.24618	0.107	B	0.22753	0.041	T	0.35325	-0.9793	9	0.44086	T	0.13	.	4.9987	0.14253	0.5084:0.0:0.4916:0.0	.	86	P17032	ZN37A_HUMAN	I	86	ENSP00000329141:R86I;ENSP00000354377:R86I	ENSP00000329141:R86I	R	+	2	0	ZNF37A	38446342	0.102000	0.21896	0.225000	0.23894	0.924000	0.55760	0.967000	0.29344	-0.154000	0.11118	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	1	0	1	65	313	0	116	1	4.162847e-01	2	6	0	116	2		0	0	0	0	0	2	1	1	65	310	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF37A	7587	broad.mit.edu	37	10	38407455	38407455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38407455G>A	ENST00000361085.5	+	7	1721	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R459K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A			28					GAACATCTGAGAAGACACACA	0.403000																								0							SO:0001583	missense			ENST00000361085.5	1	1	hg19	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954269	0.53293	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18338	2.22;2.22	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28566	0.0707	L	0.39326	1.205	0.25192	N	0.990129	D	0.71674	0.998	D	0.68483	0.958	T	0.05818	-1.0862	9	0.45353	T	0.12	.	10.0958	0.42475	0.0:0.0:1.0:0.0	.	459	P17032	ZN37A_HUMAN	K	459	ENSP00000329141:R459K;ENSP00000354377:R459K	ENSP00000329141:R459K	R	+	2	0	ZNF37A	38447461	0.003000	0.15002	0.998000	0.56505	0.984000	0.73092	1.232000	0.32636	1.246000	0.43901	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	1	0	1	51	242	0	62	1	9.955539e-01	7	35	0	62	2		0	0	0	0	0	2	1	1	51	238	0	61	2								-3.385833	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIP2C	22982	broad.mit.edu	37	10	395299	395299	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395299G>A	ENST00000280886.6	-	25	3168	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)			81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)		CCACGTGGTCGCCGTCCTGAA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000280886.6	1	1	hg19	CCDS7054.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	0	15	231	0	41	1	8.149777e-01	2	48	0	41	2		0	0	0	0	0	2	1	9.998753e-01	15	228	0	41	2								-18.118550	1	0	121394	3	34	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.740000	0.430000	1.000000	1.000000	0.754049	0.740000	0	5.700000e-01	9.800000e-01
DIP2C	22982	broad.mit.edu	37	10	395334	395334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395334C>T	ENST00000280886.6	-	25	3133	c.3046G>A	c.(3046-3048)Gtg>Atg	p.V1016M		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)			81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)		ATCAGCATCACGGCGATCTTC	0.617000																								0							SO:0001583	missense			ENST00000280886.6	1	1	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248310	0.59103	.	.	ENSG00000151240	ENST00000280886	T	0.40756	1.02	5.18	5.18	0.71444	AMP-dependent synthetase/ligase (1);	0.128780	0.53938	D	0.000058	T	0.37999	0.1024	L	0.27053	0.805	0.80722	D	1	P	0.38992	0.653	B	0.42112	0.376	T	0.11966	-1.0566	10	0.31617	T	0.26	-26.3503	18.7109	0.91656	0.0:1.0:0.0:0.0	.	1016	Q9Y2E4	DIP2C_HUMAN	M	1016	ENSP00000280886:V1016M	ENSP00000280886:V1016M	V	-	1	0	DIP2C	385334	1.000000	0.71417	0.982000	0.44146	0.387000	0.30353	4.918000	0.63376	2.409000	0.81822	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	1	43	264	0	64	1	9.849222e-01	5	38	0	64	2		0	0	0	0	0	2	1	1	42	261	0	64	2								-20.000000	1	0	121410	2	31	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
DIP2C	22982	broad.mit.edu	37	10	410353	410353	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410353G>A	ENST00000280886.6	-	20	2525	c.2438C>T	c.(2437-2439)gCg>gTg	p.A813V	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)			81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)		TACGGCCAGCGCAGTGGCCAC	0.577000																								0							SO:0001583	missense			ENST00000280886.6	1	1	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117828	0.37339	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.39056	2.98;1.1	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.39245	1.2	0.80722	D	1	D;B	0.67145	0.996;0.089	D;B	0.66196	0.942;0.037	T	0.36359	-0.9751	10	0.02654	T	1	-30.4331	19.1516	0.93491	0.0:0.0:1.0:0.0	.	134;813	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	V	813;134	ENSP00000280886:A813V;ENSP00000443826:A134V	ENSP00000280886:A813V	A	-	2	0	DIP2C	400353	1.000000	0.71417	0.671000	0.29857	0.184000	0.23303	9.869000	0.99810	2.523000	0.85059	0.455000	0.32223	GCG		TCGA-IB-7651-01A-11D-2154-08	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	1	79	373	0	72	1	9.915136e-01	8	29	0	72	2		0	0	0	0	0	2	1	1	77	368	0	72	2								-3.118925	1	0	121406	1	28	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIP2C	22982	broad.mit.edu	37	10	410407	410407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410407C>T	ENST00000280886.6	-	20	2471	c.2384G>A	c.(2383-2385)gGc>gAc	p.G795D	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)			81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)		CACCATGAGGCCATCCATCTT	0.617000																								0							SO:0001583	missense			ENST00000280886.6	1	1	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281958	0.59867	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.25749	3.43;1.78	5.26	5.26	0.73747	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.83275	0.996;0.91	T	0.53063	-0.8491	10	0.02654	T	1	-25.6232	18.871	0.92315	0.0:1.0:0.0:0.0	.	116;795	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	D	795;116	ENSP00000280886:G795D;ENSP00000443826:G116D	ENSP00000280886:G795D	G	-	2	0	DIP2C	400407	1.000000	0.71417	0.978000	0.43139	0.678000	0.39670	7.818000	0.86416	2.458000	0.83093	0.305000	0.20034	GGC		TCGA-IB-7651-01A-11D-2154-08	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	1	102	423	0	98	1	9.999912e-01	10	61	0	98	2		0	0	0	0	0	2	1	1	102	418	0	96	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIP2C	22982	broad.mit.edu	37	10	410494	410494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410494G>A	ENST00000280886.6	-	20	2384	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)			81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)		TTCACTGATCGGAGCCCCGGA	0.577000																								0							SO:0001583	missense			ENST00000280886.6	1	1	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961449	0.34565	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.52295	1.62;0.67	5.31	5.31	0.75309	AMP-dependent synthetase/ligase (1);	0.055424	0.64402	D	0.000001	T	0.51856	0.1699	M	0.63843	1.955	0.80722	D	1	B;B	0.30973	0.302;0.034	B;B	0.34180	0.177;0.072	T	0.54132	-0.8339	10	0.54805	T	0.06	-22.1795	18.9703	0.92712	0.0:0.0:1.0:0.0	.	87;766	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	L	766;87	ENSP00000280886:P766L;ENSP00000443826:P87L	ENSP00000280886:P766L	P	-	2	0	DIP2C	400494	1.000000	0.71417	0.891000	0.34965	0.035000	0.12851	6.746000	0.74866	2.484000	0.83849	0.484000	0.47621	CCG		TCGA-IB-7651-01A-11D-2154-08	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	1	0	1	53	257	0	64	1	9.991490e-01	5	49	0	64	2		0	0	0	0	0	2	1	1	52	255	0	62	2								-2.970093	1	0	121412	8	39	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF33B	7582	broad.mit.edu	37	10	43088932	43088932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088932C>A	ENST00000359467.3	-	5	1580	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	p.R489I(1)		29					TATGTGAGTTCTCTGATGCTG	0.403000													Melanoma(137;1247 1767 16772 25727 43810)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000359467.3	1	1	hg19	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453187	0.26161	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.58	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240647	0.21572	N	0.072393	T	0.19127	0.0459	L	0.53671	1.685	0.36585	D	0.873766	B	0.26876	0.162	B	0.21708	0.036	T	0.11717	-1.0576	10	0.49607	T	0.09	.	3.204	0.06659	0.2641:0.5903:0.0:0.1456	.	489	Q06732	ZN33B_HUMAN	I	489;455	ENSP00000352444:R489I	ENSP00000352444:R489I	R	-	2	0	ZNF33B	42408938	0.000000	0.05858	0.997000	0.53966	0.760000	0.43138	-0.204000	0.09425	0.639000	0.30564	0.416000	0.27883	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	80	342	0	93	1	9.964905e-01	16	23	0	93	2		0	0	0	0	0	2	1	1	75	336	0	93	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMS1	9790	broad.mit.edu	37	10	43315745	43315745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43315745G>A	ENST00000374518.5	+	16	2705	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor			62					GAGGGTTTTCGACCTGGGATG	0.448000																								0							SO:0001583	missense			ENST00000374518.5	1	1	hg19	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201816	0.94997	.	.	ENSG00000165733	ENST00000374518	T	0.17054	2.3	5.05	5.05	0.67936	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.44871	0.1314	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.35375	-0.9791	10	0.38643	T	0.18	.	18.4608	0.90737	0.0:0.0:1.0:0.0	.	881	Q14692	BMS1_HUMAN	Q	881	ENSP00000363642:R881Q	ENSP00000363642:R881Q	R	+	2	0	BMS1	42635751	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.609000	0.98334	2.352000	0.79861	0.454000	0.30748	CGA		TCGA-IB-7651-01A-11D-2154-08	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	1	0	1	144	608	0	116	1	1	37	88	0	116	2		0	0	0	0	0	2	1	1	139	574	0	116	2								-20.000000	1	1	121412	1	38	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RET	5979	broad.mit.edu	37	10	43596002	43596002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43596002C>T	ENST00000355710.3	+	2	401	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RET_ENST00000340058.5_Missense_Mutation_p.R57W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene		CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCATGCCCTGCGGGACGCCCC	0.622000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0							SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	1	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154086	0.38021	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;D	0.81908	-1.42;-1.55	5.51	5.51	0.81932	.	0.511992	0.21682	N	0.070717	D	0.86619	0.5976	L	0.55481	1.735	0.30522	N	0.768312	D;D	0.89917	0.999;1.0	P;P	0.59288	0.72;0.855	D	0.85478	0.1177	10	0.87932	D	0	.	12.3445	0.55114	0.2805:0.7195:0.0:0.0	.	57;57	P07949;P07949-2	RET_HUMAN;.	W	57	ENSP00000347942:R57W;ENSP00000344798:R57W	ENSP00000344798:R57W	R	+	1	2	RET	42916008	0.742000	0.28228	0.049000	0.19019	0.003000	0.03518	1.347000	0.33975	2.605000	0.88082	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1	50	261	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	50	255	0	51	2								-3.161933	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RET	5979	broad.mit.edu	37	10	43601943	43601943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43601943C>A	ENST00000355710.3	+	5	1219	c.987C>A	c.(985-987)ttC>ttA	p.F329L	RET_ENST00000340058.5_Missense_Mutation_p.F329L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene		CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGCAGACCTTCCGGGTGGAAC	0.647000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0							SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	0	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593304	0.86953	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80304	-1.25;-1.36	5.32	4.41	0.53225	.	0.108147	0.64402	D	0.000002	D	0.86422	0.5929	M	0.63843	1.955	0.54753	D	0.999985	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.85130	0.986;0.917;0.997	D	0.84611	0.0678	10	0.30854	T	0.27	.	11.9086	0.52727	0.0:0.9158:0.0:0.0842	.	75;329;329	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	L	329	ENSP00000347942:F329L;ENSP00000344798:F329L	ENSP00000344798:F329L	F	+	3	2	RET	42921949	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.325000	0.33724	1.478000	0.48253	0.563000	0.77884	TTC		TCGA-IB-7651-01A-11D-2154-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1	18	139	0	23	0	1.142242e-01	0	5	0	23	2		0	0	0	0	0	2	1	9.999858e-01	18	137	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.850000	1.000000	1.000000	0.990513	0.990000	1	9.900000e-01	1
RET	5979	broad.mit.edu	37	10	43612162	43612162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43612162C>A	ENST00000355710.3	+	12	2499	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	RET_ENST00000340058.5_Missense_Mutation_p.A756D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	p.A756V(1)	CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCACGGTGGCCGTGAAGATG	0.602000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	1	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153002	0.94645	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.95980	-3.87;-3.87	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99253	1.0888	10	0.87932	D	0	.	19.7216	0.96145	0.0:1.0:0.0:0.0	.	502;756;756	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	756	ENSP00000347942:A756D;ENSP00000344798:A756D	ENSP00000344798:A756D	A	+	2	0	RET	42932168	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	0	0	0	31	800	0	165	0	0	0	1	0	165	2		0	0	0	0	0	2	1	1	31	791	0	164	2								-3.827908	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.440000	0.300000	1.000000	0.440000	0.482604	0.440000	0	3.700000e-01	5.500000e-01
RET	5979	broad.mit.edu	37	10	43613844	43613844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43613844C>T	ENST00000355710.3	+	13	2540	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	p.R770*(1)	CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAGTGAGCTGCGAGACCTGCT	0.562000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	1	Substitution - Nonsense(1)						SO:0001587	stop_gained	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	0	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	41	8.586971	0.98875	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	.	.	.	5.58	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7699	0.78162	0.3268:0.6732:0.0:0.0	.	.	.	.	X	770	.	ENSP00000344798:R770X	R	+	1	2	RET	42933850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.493000	0.35605	1.324000	0.45282	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1	25	144	0	45	0	0	0	1	0	45	2		0	0	0	0	0	2	1	9.999999e-01	25	139	0	45	2								-20.000000	1	1	121412	1	24	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999764	0.990000	1	9.900000e-01	1
RET	5979	broad.mit.edu	37	10	43615116	43615116	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43615116C>T	ENST00000355710.3	+	14	2762	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	RET_ENST00000340058.5_Missense_Mutation_p.R844W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene		CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCGGATGAGCGGGCCCTCAC	0.647000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0		GRCh37	CM066982	RET	M		SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	1	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889118	0.72524	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.83335	-1.71;-1.71	5.36	-0.803	0.10886	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89496	0.3760	10	0.87932	D	0	.	16.3483	0.83171	0.6157:0.3843:0.0:0.0	.	590;844;844	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	W	844	ENSP00000347942:R844W;ENSP00000344798:R844W	ENSP00000344798:R844W	R	+	1	2	RET	42935122	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	1.985000	0.40668	0.186000	0.20125	0.313000	0.20887	CGG		TCGA-IB-7651-01A-11D-2154-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1	43	285	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	43	278	0	57	2								-3.319077	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999897	0.990000	1	9.900000e-01	1
RET	5979	broad.mit.edu	37	10	43623580	43623580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43623580C>T	ENST00000355710.3	+	20	3440	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene		CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCGAACTGGCCTGGAGAGAG	0.448000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0							SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	1	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844386	0.51164	.	.	ENSG00000165731	ENST00000355710	D	0.93547	-3.24	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	N	0.17082	0.46	0.80722	D	1	P	0.44478	0.836	B	0.43754	0.43	D	0.89203	0.3559	10	0.54805	T	0.06	.	12.7379	0.57236	0.0:0.9248:0.0:0.0751	.	1070	P07949	RET_HUMAN	S	1070	ENSP00000347942:P1070S	ENSP00000347942:P1070S	P	+	1	0	RET	42943586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.752000	0.68728	2.593000	0.87608	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	1	0	1	128	657	0	208		0	0	0	0	208	2		0	0	0	0	0	2	1	1	125	648	0	206	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSGALNACT2	55454	broad.mit.edu	37	10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	p.R94W(1)		42					TGAGAAGATGCGGTCACTGCA	0.428000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000374466.3	0	1	hg19	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	A	33	5.252355	0.95336	0.0	1.16E-4	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.78481	2.39;-1.18	5.56	5.56	0.83823	.	0.122893	0.64402	D	0.000001	D	0.83677	0.5306	L	0.55481	1.735	0.43857	D	0.996457	D;D	0.71674	0.995;0.998	P;P	0.62491	0.865;0.903	D	0.84506	0.0619	10	0.87932	D	0	-12.2648	13.2048	0.59788	0.8669:0.1331:0.0:0.0	.	94;94	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	W	94	ENSP00000363590:R94W;ENSP00000363588:R94W	ENSP00000363588:R94W	R	+	1	2	CSGALNACT2	42970883	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	5.736000	0.68597	1.051000	0.40369	-0.264000	0.10439	CGG		TCGA-IB-7651-01A-11D-2154-08	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	0	0	0	8	248	0	39	1	9.347509e-01	4	147	0	39	2		0	0	0	0	0	2	1	9.888172e-01	8	243	0	38	2								-3.081956	1	0	121412	18	40	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.390000	0.180000	1.000000	0.370000	0.438399	0.390000	0	2.700000e-01	5.700000e-01
CSGALNACT2	55454	broad.mit.edu	37	10	43650908	43650908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650908C>T	ENST00000374466.3	+	2	646	c.311C>T	c.(310-312)gCt>gTt	p.A104V	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2			42					AATGTAGGGGCTAATGGCATA	0.433000																								0							SO:0001583	missense			ENST00000374466.3	1	1	hg19	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236205	0.22626	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.15256	2.44;2.44	5.56	2.68	0.31781	.	0.553571	0.21419	N	0.074849	T	0.06325	0.0163	N	0.03115	-0.41	0.28538	N	0.91226	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33954	-0.9848	10	0.21014	T	0.42	0.0722	6.5965	0.22677	0.0:0.5503:0.2714:0.1783	.	104;104	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	V	104	ENSP00000363590:A104V;ENSP00000363588:A104V	ENSP00000363588:A104V	A	+	2	0	CSGALNACT2	42970914	0.286000	0.24305	0.957000	0.39632	0.985000	0.73830	0.642000	0.24735	0.387000	0.25024	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	1	0	1	48	230	0	46	1	1	17	147	0	46	2		0	0	0	0	0	2	1	1	46	226	0	46	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASGEF1A	221002	broad.mit.edu	37	10	43691985	43691985	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43691985C>T	ENST00000395809.1	-	12	3866	c.1360G>A	c.(1360-1362)Gcc>Acc	p.A454T	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	p.A401T(1)		11					TCAAAGGAGGCGACGAAGAGA	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000395809.1	1	1	hg19	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	32	5.162848	0.94727	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.30981	1.51;1.51;1.51	5.14	5.14	0.70334	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.45175	0.1329	M	0.61703	1.905	0.80722	D	1	P;P	0.50819	0.807;0.939	B;P	0.50314	0.356;0.637	T	0.44283	-0.9338	10	0.59425	D	0.04	.	18.9656	0.92695	0.0:1.0:0.0:0.0	.	454;462	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	T	462;454;454	ENSP00000363583:A462T;ENSP00000379155:A454T;ENSP00000379154:A454T	ENSP00000363583:A462T	A	-	1	0	RASGEF1A	43011991	1.000000	0.71417	0.958000	0.39756	0.922000	0.55478	7.403000	0.79983	2.550000	0.86006	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	1	0	1	84	431	0	107	0	9.889586e-01	1	37	0	107	2		0	0	0	0	0	2	1	1	83	422	0	104	2								-3.150579	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASGEF1A	221002	broad.mit.edu	37	10	43694616	43694616	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43694616G>A	ENST00000395809.1	-	8	3382	c.876C>T	c.(874-876)cgC>cgT	p.R292R	RASGEF1A_ENST00000374459.1_Silent_p.R300R|RASGEF1A_ENST00000395810.1_Silent_p.R292R|RASGEF1A_ENST00000472864.1_5'Flank			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A			11					ACTCCAACATGCGGGTCCGGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000395809.1	1	1	hg19	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435865	0.25813	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.45	-2.48	0.06423	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	.	3.3471	0.07139	0.0784:0.2701:0.2189:0.4325	.	.	.	.	Y	194	.	.	H	-	1	0	RASGEF1A	43014622	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	1.945000	0.40273	-0.255000	0.09486	-0.176000	0.13171	CAT		TCGA-IB-7651-01A-11D-2154-08	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	1	0	1	25	90	0	17	1	9.951059e-01	24	10	0	17	2		0	0	0	0	0	2	1	9.999999e-01	25	89	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
HNRNPF	3185	broad.mit.edu	37	10	43882434	43882434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882434G>A	ENST00000544000.1	-	4	1306	c.899C>T	c.(898-900)gCg>gTg	p.A300V	HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000443950.2_Missense_Mutation_p.A300V	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F			19					GTTCTCGGTCGCTTTGTACGG	0.522000																								0							SO:0001583	missense			ENST00000544000.1	1	1	hg19	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016128	0.54468	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	4.38	3.48	0.39840	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00766	-1.1575	10	0.41790	T	0.15	-29.7746	10.982	0.47499	0.0928:0.0:0.9072:0.0	.	300	P52597	HNRPF_HUMAN	V	300;300;300;300;300;223	ENSP00000438061:A300V;ENSP00000400433:A300V;ENSP00000348345:A300V;ENSP00000349573:A300V;ENSP00000338477:A300V	ENSP00000338477:A300V	A	-	2	0	HNRNPF	43202440	1.000000	0.71417	0.837000	0.33122	0.698000	0.40448	8.811000	0.91954	1.446000	0.47643	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2	1	0	1	59	265	0	54	1	1	339	800	0	54	2		0	0	0	0	0	2	1	1	59	259	0	53	2								-20.000000	1	0	121412	2	32	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882502G>A	ENST00000544000.1	-	4	1238	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F			19					ACTCACTGTCGCCGTATCTGT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000544000.1	1	1	hg19	CCDS7204.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2	1	0	1	40	173	0	44	1	1	371	755	0	44	2		0	0	0	0	0	2	1	1	38	171	0	43	2								-3.507612	1	0	121412	4	34	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF239	8187	broad.mit.edu	37	10	44052679	44052679	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44052679G>A	ENST00000306006.6	-	2	1501	c.849C>T	c.(847-849)gcC>gcT	p.A283A	ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000374446.2_Silent_p.A283A|ZNF239_ENST00000426961.1_Silent_p.A283A|ZNF239_ENST00000535642.1_Silent_p.A283A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239			20					CTGTATGGACGGCATGATGGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000306006.6	1	0	hg19	CCDS41502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1	1	0	1	139	621	0	147	1	8.855131e-01	4	15	0	147	2		0	0	0	0	0	2	1	1	137	608	0	146	2								-2.832331	1	1	121282	1	40	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF239	8187	broad.mit.edu	37	10	44053102	44053102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053102C>A	ENST00000306006.6	-	2	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239			20					ATTCTTTTAACTGGCCATTCT	0.448000																								0							SO:0001583	missense			ENST00000306006.6	1	1	hg19	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726442	0.48833	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.1	-1.44	0.08856	.	.	.	.	.	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.40572	-0.9556	9	0.72032	D	0.01	-18.9363	4.2722	0.10792	0.0:0.3819:0.1717:0.4463	.	142	Q16600	ZN239_HUMAN	H	142	ENSP00000307774:Q142H;ENSP00000363569:Q142H;ENSP00000398202:Q142H;ENSP00000443907:Q142H	ENSP00000307774:Q142H	Q	-	3	2	ZNF239	43373108	.	.	0.003000	0.11579	0.652000	0.38707	.	.	-0.263000	0.09378	-0.136000	0.14681	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1	1	0	1	62	373	0	82	1	3.784826e-01	2	7	0	82	2		0	0	0	0	1	2	1	9.999999e-01	61	367	1	82	18								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF239	8187	broad.mit.edu	37	10	44053455	44053455	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053455G>A	ENST00000306006.6	-	2	725	c.73C>T	c.(73-75)Cta>Tta	p.L25L	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Silent_p.L25L|ZNF239_ENST00000426961.1_Silent_p.L25L|ZNF239_ENST00000535642.1_Silent_p.L25L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239			20					GAAATATCTAGTTCAGGCTCC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000306006.6	0	1	hg19	CCDS41502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1	0	0	0	7	240	0	73	0	1.559442e-02	1	5	0	73	2		0	0	0	0	0	2	1	9.795890e-01	7	235	0	73	2								-8.464765	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.360000	0.150000	1.000000	0.330000	0.407945	0.360000	0	2.400000e-01	5.400000e-01
ZNF485	220992	broad.mit.edu	37	10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485			16					AGTCATCAGAGAATTCATACT	0.393000																								0							SO:0001583	missense			ENST00000361807.3	1	1	hg19	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300985	0.40694	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.24908	1.83;1.83;1.83	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.60904	1.88	0.44603	D	0.997574	P	0.36974	0.576	B	0.36289	0.221	T	0.15350	-1.0440	9	0.51188	T	0.08	.	10.772	0.46327	0.0:0.0:1.0:0.0	.	234	Q8NCK3	ZN485_HUMAN	I	234;143;234	ENSP00000354694:R234I;ENSP00000363560:R143I;ENSP00000363558:R234I	ENSP00000354694:R234I	R	+	2	0	ZNF485	43432198	0.004000	0.15560	0.999000	0.59377	0.949000	0.60115	1.362000	0.34148	1.613000	0.50231	0.462000	0.41574	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	1	0	1	64	262	0	67	1	7.148195e-01	3	9	0	67	2		0	0	0	0	0	2	1	1	64	259	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF32	7580	broad.mit.edu	37	10	44139542	44139542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139542G>A	ENST00000395797.1	-	3	966	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'Flank	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32			14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)			TGCACAGCCAGACTCCCTCTC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000395797.1	1	1	hg19	CCDS7206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	1	0	1	41	163	0	43	1	1	57	147	0	43	2		0	0	0	0	0	2	1	1	41	161	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF32	7580	broad.mit.edu	37	10	44139576	44139576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139576G>A	ENST00000395797.1	-	3	932	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'Flank	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32			14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)			TTCCACACTGGCCGCACAGAT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000395797.1	1	1	hg19	CCDS7206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	0	0	0	7	228	0	52	1	9.452631e-01	14	155	0	52	2		0	0	0	0	0	2	1	9.807734e-01	7	227	0	52	2								-8.496698	1	0	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.380000	0.160000	1.000000	0.350000	0.425400	0.380000	0	2.500000e-01	5.600000e-01
ZNF32	7580	broad.mit.edu	37	10	44141643	44141643	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44141643C>A	ENST00000395797.1	-	0	127				ZNF32_ENST00000374433.2_De_novo_Start_InFrame|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'UTR	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32			14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)			TGGGCTGTTCCTGAGCACCTG	0.438000																								0											ENST00000395797.1	0	1	hg19	CCDS7206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	0	0	0	15	76	0	24	1	9.991906e-01	21	45	0	24	2		0	0	0	0	0	2	1	9.999052e-01	15	74	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999148	0.990000	1	9.900000e-01	1
OR13A1	79290	broad.mit.edu	37	10	45799016	45799016	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799016G>A	ENST00000553795.1	-	4	1163	c.855C>T	c.(853-855)agC>agT	p.S285S	OR13A1_ENST00000536058.1_Silent_p.S285S|OR13A1_ENST00000374401.2_Silent_p.S285S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1			19					TCTTCCCTGCGCTGTAGCCAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000553795.1	1	1	hg19	CCDS31188.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	1	0	1	52	279	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	51	275	0	55	2								-3.154012	1	1	121412	12	40	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR13A1	79290	broad.mit.edu	37	10	45799323	45799323	+	Missense_Mutation	SNP	C	C	T	rs116633831	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799323C>T	ENST00000553795.1	-	4	856	c.548G>A	c.(547-549)cGc>cAc	p.R183H	OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H|OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1			19					GAAATCCAAGCGCAGCATCAG	0.592000																								0							SO:0001583	missense			ENST00000553795.1	1	1	hg19	CCDS31188.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	c	10.85	1.467132	0.26335	0.011121	0.0	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00169	8.63;8.63;8.63	5.78	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.337003	0.21928	N	0.067072	T	0.00109	0.0003	L	0.45137	1.4	0.09310	N	1	B	0.28820	0.224	B	0.30782	0.12	T	0.36744	-0.9735	10	0.59425	D	0.04	-11.6422	4.3697	0.11242	0.1471:0.5436:0.0:0.3094	.	183	Q8NGR1	O13A1_HUMAN	H	183	ENSP00000451950:R183H;ENSP00000438657:R183H;ENSP00000363522:R183H	ENSP00000311379:R183H	R	-	2	0	OR13A1	45119329	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	-1.628000	0.02031	0.095000	0.17434	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	1	0	1	77	307	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	76	304	0	65	2								-2.853788	1	1	121394	138	52	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALOX5	240	broad.mit.edu	37	10	45939272	45939272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45939272G>A	ENST00000374391.2	+	12	1723	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	ALOX5_ENST00000542434.1_Missense_Mutation_p.G557D|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase			37		Lung SC(717;0.0257)		Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GTCAACTTCGGCCAGGTAGGC	0.697000																								0							SO:0001583	missense			ENST00000374391.2	0	1	hg19	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408430	0.96051	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90324	-2.65;-2.65	5.23	5.23	0.72850	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.97434	1.0017	10	0.87932	D	0	-35.575	16.3342	0.83052	0.0:0.0:1.0:0.0	.	557;525;557	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	D	557	ENSP00000437634:G557D;ENSP00000363512:G557D	ENSP00000363512:G557D	G	+	2	0	ALOX5	45259278	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	9.652000	0.98499	2.723000	0.93209	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1	0	0	0	6	66	0	12	1	9.999900e-01	63	346	0	12	2		0	0	0	0	0	2	1	9.656770e-01	6	65	0	11	2								-11.441610	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.440000	1.000000	1.000000	0.884093	0.990000	1	6.800000e-01	1
FAM21C	253725	broad.mit.edu	37	10	46264949	46264949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46264949C>T	ENST00000336378.4	+	20	2034	c.1916C>T	c.(1915-1917)tCt>tTt	p.S639F	FAM21C_ENST00000537517.1_Missense_Mutation_p.S617F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S641F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S583F	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C			28					GACAGCAGGTCTAAAGGAGAA	0.463000																								0							SO:0001583	missense			ENST00000336378.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252178	0.22880	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.29	2.27	0.28462	.	0.613015	0.16911	N	0.194482	T	0.60495	0.2273	M	0.72479	2.2	0.34743	D	0.730933	D;P;P;D	0.60575	0.988;0.933;0.933;0.988	P;P;P;P	0.56700	0.804;0.474;0.474;0.714	T	0.70103	-0.4964	9	0.56958	D	0.05	-3.7327	7.059	0.25115	0.2697:0.7303:0.0:0.0	.	617;641;639;584	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	F	639;641;617;641;641;583;553	.	ENSP00000337541:S639F	S	+	2	0	FAM21C	45584955	0.337000	0.24766	0.471000	0.27229	0.212000	0.24457	1.209000	0.32357	1.836000	0.53414	0.549000	0.68633	TCT		TCGA-IB-7651-01A-11D-2154-08	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	61	243	0	67	1	9.999281e-01	11	48	0	67	2		0	0	0	0	0	2	1	9.975421e-01	9	30	0	91	2								-20.000000	1	1	117944	1	17	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGAP4	119016	broad.mit.edu	37	10	46322028	46322028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46322028C>T	ENST00000448048.2	-	7	1452	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4			3					GACTGCAGGGCCATGGCCTTG	0.577000																								0							SO:0001583	missense			ENST00000448048.2	1	1	hg19	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575236	0.45902	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.44482	0.92	.	.	.	.	0.125014	0.52532	D	0.000062	T	0.54319	0.1851	M	0.69463	2.115	0.41499	D	0.988276	D;P;D	0.76494	0.999;0.588;0.999	D;P;D	0.91635	0.998;0.573;0.999	T	0.50320	-0.8842	9	0.51188	T	0.08	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	466;511;443	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	T	443;219	ENSP00000392513:A443T	ENSP00000343438:A219T	A	-	1	0	AGAP4	45642034	1.000000	0.71417	0.031000	0.17742	0.032000	0.12392	5.212000	0.65225	0.107000	0.17824	0.109000	0.15622	GCC		TCGA-IB-7651-01A-11D-2154-08	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	0	0	1	99	771	0	180	0	1.041458e-01	0	5	0	180	2		0	0	0	0	0	2	1	9.952216e-01	14	50	0	218	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
SYT15	83849	broad.mit.edu	37	10	46962105	46962105	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46962105C>A	ENST00000374321.4	-	8	1197	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	SYT15_ENST00000449358.2_5'Flank|SYT15_ENST00000374323.4_Missense_Mutation_p.Q430H|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV			13					GGCCCAGCTGCTGGCTCTCTG	0.652000													Ovarian(57;1152 1428 19651 37745)											0							SO:0001583	missense			ENST00000374321.4	1	1	hg19	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.007040	0.35415	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.70282	-0.47;-0.47	4.71	-3.63	0.04529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	1.702880	0.02769	N	0.119530	T	0.37758	0.1015	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	10	0.44086	T	0.13	.	1.9877	0.03439	0.2809:0.2539:0.3579:0.1073	.	377	Q9BQS2	SYT15_HUMAN	H	216;430;377	ENSP00000363443:Q430H;ENSP00000363441:Q377H	ENSP00000363441:Q377H	Q	-	3	2	SYT15	46382111	0.000000	0.05858	0.000000	0.03702	0.715000	0.41141	-0.361000	0.07612	-0.937000	0.03719	-0.448000	0.05591	CAG		TCGA-IB-7651-01A-11D-2154-08	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	1	0	0	17	242	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	9.999689e-01	18	240	0	49	2								-19.916470	1	1	0	0		1						0.170000	2.060000									0	0
GPRIN2	9721	broad.mit.edu	37	10	46999004	46999004	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999004A>C	ENST00000374317.1	+	3	397	c.124A>C	c.(124-126)Act>Cct	p.T42P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.T42P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2			18					GCTCCGCAAGACTGCCAGCAG	0.701000																								0							SO:0001583	missense			ENST00000374317.1	1	1	hg19	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719055	0.48622	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03689	3.84;3.84	5.44	4.31	0.51392	.	0.509005	0.18304	N	0.145333	T	0.02342	0.0072	N	0.14661	0.345	0.21802	N	0.99954	P	0.34977	0.478	B	0.26416	0.069	T	0.45512	-0.9256	10	0.66056	D	0.02	-3.7877	8.1206	0.30969	0.9086:0.0:0.0914:0.0	.	42	O60269	GRIN2_HUMAN	P	42	ENSP00000363436:T42P;ENSP00000363433:T42P	ENSP00000363433:T42P	T	+	1	0	GPRIN2	46419010	1.000000	0.71417	0.885000	0.34714	0.783000	0.44284	6.867000	0.75511	1.026000	0.39733	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	1	0	0	43	465	0	76	0	7.335407e-01	1	29	0	76	2		0	0	0	0	0	2	1	1	40	461	0	75	2								-20.000000	1	1	0	0		1	0	3	3	1.860892	1	0.170000	2.060000	2.350230e-01	0.990000	0.790000	1.000000	1.000000	0.974683	0.990000	1	9.300000e-01	1
GPRIN2	9721	broad.mit.edu	37	10	46999231	46999231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999231G>A	ENST00000374317.1	+	3	624	c.351G>A	c.(349-351)atG>atA	p.M117I	GPRIN2_ENST00000374314.4_Missense_Mutation_p.M117I	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2			18					CTGCTGCTATGCAGAGGAGCC	0.647000																								0							SO:0001583	missense			ENST00000374317.1	1	1	hg19	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496194	0.26861	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03065	4.06;4.06	5.64	2.72	0.32119	.	1.004860	0.08019	N	0.991607	T	0.03739	0.0106	L	0.40543	1.245	0.26608	N	0.972885	B	0.10296	0.003	B	0.04013	0.001	T	0.48937	-0.8990	10	0.18710	T	0.47	-2.2012	5.2223	0.15375	0.1712:0.0:0.6646:0.1642	.	117	O60269	GRIN2_HUMAN	I	117	ENSP00000363436:M117I;ENSP00000363433:M117I	ENSP00000363433:M117I	M	+	3	0	GPRIN2	46419237	0.986000	0.35501	0.797000	0.32132	0.399000	0.30720	0.575000	0.23729	0.395000	0.25257	0.650000	0.86243	ATG		TCGA-IB-7651-01A-11D-2154-08	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	1	0	1	17	195	0	36	1	7.826955e-01	16	19	0	36	2		0	0	0	0	0	2	1	9.999665e-01	16	192	0	36	2								-19.999230	1	0	0	0		1	0	3	3	1.860892	1	0.170000	2.060000	2.350230e-01	0.990000	0.630000	1.000000	1.000000	0.932810	0.990000	1	8.100000e-01	1
GPRIN2	9721	broad.mit.edu	37	10	46999326	46999326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999326G>A	ENST00000374317.1	+	3	719	c.446G>A	c.(445-447)aGc>aAc	p.S149N	GPRIN2_ENST00000374314.4_Missense_Mutation_p.S149N	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2			18					CTTGGCAGCAGCCCTGTCCAC	0.642000																								0							SO:0001583	missense			ENST00000374317.1	1	1	hg19	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108281	0.37242	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.04234	3.67;3.67	5.41	2.53	0.30540	.	0.875658	0.09507	N	0.792806	T	0.12774	0.0310	M	0.65975	2.015	0.18873	N	0.999989	D	0.61080	0.989	P	0.58266	0.836	T	0.21861	-1.0233	10	0.33940	T	0.23	-2.5873	5.3762	0.16166	0.0:0.6485:0.1713:0.1803	.	149	O60269	GRIN2_HUMAN	N	149	ENSP00000363436:S149N;ENSP00000363433:S149N	ENSP00000363433:S149N	S	+	2	0	GPRIN2	46419332	0.007000	0.16637	0.068000	0.19968	0.665000	0.39181	0.497000	0.22514	0.785000	0.33685	-0.153000	0.13522	AGC		TCGA-IB-7651-01A-11D-2154-08	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	1	0	1	22	172	0	38	0	8.239175e-01	1	26	0	38	2		0	0	0	0	0	2	1	9.999990e-01	22	169	0	38	2								-20.000000	1	0	0	0		1	0	3	3	1.860892	1	0.170000	2.060000	2.350230e-01	0.990000	0.950000	1.000000	1.000000	0.996686	0.990000	1	9.900000e-01	1
GPRIN2	9721	broad.mit.edu	37	10	46999982	46999982	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999982C>A	ENST00000374317.1	+	3	1375	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	GPRIN2_ENST00000374314.4_Missense_Mutation_p.L368M	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	p.L368V(1)		18					AGAGGTAACTCTGGGGTCCAG	0.667000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000374317.1	0	1	hg19	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029659	0.19512	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.25749	1.78;1.78	4.85	1.91	0.25777	.	0.253457	0.20905	N	0.083570	T	0.41305	0.1153	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.10567	-1.0624	10	0.62326	D	0.03	-5.6541	5.7221	0.17992	0.0:0.6451:0.1653:0.1896	.	368	O60269	GRIN2_HUMAN	M	368	ENSP00000363436:L368M;ENSP00000363433:L368M	ENSP00000363433:L368M	L	+	1	2	GPRIN2	46419988	0.010000	0.17322	0.088000	0.20740	0.019000	0.09904	0.134000	0.15932	0.583000	0.29574	-0.676000	0.03789	CTG		TCGA-IB-7651-01A-11D-2154-08	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	0	0	0	16	575	0	110	0	1.135216e-01	0	20	0	110	2		0	0	0	0	0	2	1	9.999270e-01	16	568	0	108	2								-2.902836	1	1	0	0		1	0	3	3	1.860892	1	0.170000	2.060000	2.350230e-01	0.350000	0.200000	0.540000	0.340000	0.363921	0.350000	0	2.700000e-01	4.500000e-01
ANXA8L2	0	broad.mit.edu	37	10	47756730	47756730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47756730G>A	ENST00000374277.5	+	8	766	c.644G>A	c.(643-645)aGa>aAa	p.R215K	ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R153K|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K|AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000449464.2_3'UTR	NM_001630.2	NP_001621.2						2					CACCTGCTGAGAGGTACCAGG	0.587000																								0							SO:0001583	missense			ENST00000374277.5	1	1	hg19	CCDS7216.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.343474	0.01277	.	.	ENSG00000186807	ENST00000340243;ENST00000374277;ENST00000538825	T;T;T	0.03094	4.05;4.05;4.05	1.76	1.76	0.24704	Annexin repeat, conserved site (1);	0.092566	0.47455	D	0.000227	T	0.01489	0.0048	N	0.04787	-0.16	0.80722	D	1	B;B;B	0.25351	0.007;0.124;0.0	B;B;B	0.24269	0.01;0.052;0.007	T	0.45600	-0.9250	10	0.02654	T	1	.	7.1177	0.25427	0.0:0.0:1.0:0.0	.	158;196;215	B4DTF2;Q5VT79-2;Q5VT79	.;.;AXA82_HUMAN	K	196;215;153	ENSP00000339264:R196K;ENSP00000363395:R215K;ENSP00000440742:R153K	ENSP00000339264:R196K	R	+	2	0	ANXA8L2	47226736	0.999000	0.42202	1.000000	0.80357	0.633000	0.38033	0.312000	0.19397	1.340000	0.45581	0.274000	0.19336	AGA		TCGA-IB-7651-01A-11D-2154-08	ANXA8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047866.1	0	0	0	60	225	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	9.999999e-01	20	74	0	73	2								-20.000000	1	1	0	0		1	0	3	3	1.860892	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF488	118738	broad.mit.edu	37	10	48371057	48371057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48371057G>A	ENST00000395702.2	+	2	752	c.525G>A	c.(523-525)gaG>gaA	p.E175E	ZNF488_ENST00000586537.1_Silent_p.E68E|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488			14					AGAGGCCTGAGCTAACCTCAG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000395702.2	1	1	hg19	CCDS7217.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	1	0	1	79	319	0	107	1	2.632246e-01	4	1	0	107	2		0	0	0	0	0	2	1	1	79	314	0	107	2								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBP3	5949	broad.mit.edu	37	10	48389870	48389870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48389870G>T	ENST00000224600.4	-	1	1121	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial			59				Vitamin A(DB00162)	AGTCCTTCAGGACCTCCTGGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000224600.4	1	1	hg19	CCDS7218.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	0	0	14	278	1	51		0	0	0	1	51	2		0	0	0	0	0	2	0	2.861783e-01	14	277	1	51	18								-16.096490	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.560000	0.320000	0.880000	0.550000	0.585311	0.560000	0	4.300000e-01	7.300000e-01
RBP3	5949	broad.mit.edu	37	10	48390460	48390460	+	Missense_Mutation	SNP	C	C	T	rs34932849	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48390460C>T	ENST00000224600.4	-	1	531	c.418G>A	c.(418-420)Ggc>Agc	p.G140S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial			59				Vitamin A(DB00162)	ACCTCCTGGCCCGGGACGCTG	0.637000																								0							SO:0001583	missense			ENST00000224600.4	1	1	hg19	CCDS7218.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.52	2.262480	0.39995	0.003631	0.0	ENSG00000107618	ENST00000224600	T	0.63096	-0.02	5.7	1.6	0.23607	Interphotoreceptor retinol-binding (2);	0.295374	0.42294	N	0.000726	T	0.68805	0.3041	L	0.46157	1.445	0.37162	D	0.902659	D	0.71674	0.998	D	0.76575	0.988	T	0.69518	-0.5124	10	0.56958	D	0.05	-14.0283	9.285	0.37751	0.0:0.6973:0.0:0.3027	rs34932849	140	P10745	RET3_HUMAN	S	140	ENSP00000224600:G140S	ENSP00000224600:G140S	G	-	1	0	RBP3	48010466	0.213000	0.23551	0.010000	0.14722	0.012000	0.07955	1.170000	0.31883	0.030000	0.15379	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	0	0	23	592	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	9.999992e-01	22	580	0	98	2								-4.239192	1	1	121412	50	49	1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.430000	0.280000	0.630000	0.430000	0.450758	0.430000	0	3.500000e-01	5.400000e-01
GDF2	2658	broad.mit.edu	37	10	48413908	48413908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48413908G>A	ENST00000249598.1	-	2	1119	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2			28					CAGCCCCGGCGCTCCTTTTCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000249598.1	1	1	hg19	CCDS7219.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	1	0	1	78	373	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	78	363	0	82	2								-20.000000	1	0	121410	3	36	1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GDF10	2662	broad.mit.edu	37	10	48428790	48428790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48428790G>A	ENST00000224605.2	-	2	1361	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10			31					TGCTTCCTCCGGGCTTTCTGC	0.597000																								0							SO:0001583	missense			ENST00000224605.2	1	1	hg19	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288797	0.59976	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.79653	-1.29	5.43	1.11	0.20524	Transforming growth factor-beta, C-terminal (1);	0.050803	0.64402	D	0.000001	D	0.86443	0.5934	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83990	0.0337	10	0.87932	D	0	.	6.3463	0.21351	0.144:0.0:0.5155:0.3405	.	176;366	Q8N6T2;P55107	.;BMP3B_HUMAN	W	176;366	ENSP00000224605:R366W	ENSP00000224605:R366W	R	-	1	2	GDF10	48048796	1.000000	0.71417	0.994000	0.49952	0.675000	0.39556	2.333000	0.43912	0.332000	0.23536	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	0	0	0	10	349	0	56	0	2.957909e-03	0	3	0	56	2		0	0	0	0	0	2	1	9.966156e-01	10	341	0	55	2								-2.780192	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.330000	0.170000	0.560000	0.330000	0.351014	0.330000	0	2.400000e-01	4.500000e-01
GDF10	2662	broad.mit.edu	37	10	48429256	48429256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48429256G>A	ENST00000224605.2	-	2	895	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10			31					GGGCCGCCTTGACGATGGGGG	0.726000																								0							SO:0001819	synonymous_variant			ENST00000224605.2	1	1	hg19	CCDS7220.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	1	0	0	45	158	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1	45	156	0	23	2								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49371699C>A	ENST00000374201.3	-	28	3855	c.3553G>T	c.(3553-3555)Gct>Tct	p.A1185S	FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	p.A1185T(1)		66					TCTTTGTCAGCTGAGAGTTCA	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000374201.3	1	1	hg19	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674182	0.00758	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	T;T;T;T	0.61742	3.65;0.14;0.08;0.08	3.75	-0.861	0.10676	.	.	.	.	.	T	0.30324	0.0761	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.13145	0.004;0.007;0.001;0.007;0.007	B;B;B;B;B	0.14578	0.01;0.011;0.001;0.011;0.01	T	0.15009	-1.0452	9	0.20519	T	0.43	.	1.0555	0.01589	0.1527:0.3824:0.2338:0.2311	.	137;1160;1185;1153;196	Q68DX3-5;Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;.;FRPD2_HUMAN;.;.	S	137;1185;1160;1153	ENSP00000422446:A137S;ENSP00000363317:A1185S;ENSP00000307079:A1160S;ENSP00000384339:A1153S	ENSP00000307079:A1160S	A	-	1	0	FRMPD2	49041705	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.174000	0.09839	-0.044000	0.13491	-0.347000	0.07816	GCT		TCGA-IB-7651-01A-11D-2154-08	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	1	0	0	110	585	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1	97	507	1	219	11								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMPD2	143162	broad.mit.edu	37	10	49446033	49446033	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49446033C>T	ENST00000374201.3	-	8	1224		c.e8+1		FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2			66					ATTTTGCTTACCTTGCTCCTT	0.577000																								0							SO:0001630	splice_region_variant			ENST00000374201.3	1	1	hg19	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609163	0.28623	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7138	0.57103	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMPD2	49116039	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	3.079000	0.50104	2.268000	0.75426	0.462000	0.41574	.		TCGA-IB-7651-01A-11D-2154-08	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	1	0	1	165	700	0	155		0	0	0	0	155	2		0	0	0	0	0	2	1	1	161	679	0	153	2								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK8	5599	broad.mit.edu	37	10	49612896	49612896	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49612896G>A	ENST00000374189.1	+	3	305	c.124G>A	c.(124-126)Gca>Aca	p.A42T	MAPK8_ENST00000360332.3_Splice_Site_p.A42T|MAPK8_ENST00000374174.1_Splice_Site_p.A42T|MAPK8_ENST00000374182.3_Splice_Site_p.A42T|MAPK8_ENST00000395611.3_Splice_Site_p.A42T			P45983	MK08_HUMAN	mitogen-activated protein kinase 8			34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)			TTATTACAGCGCAGCTTATGA	0.373000																								0							SO:0001630	splice_region_variant			ENST00000374189.1	1	0	hg19	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622515	0.87460	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056698	0.64402	D	0.000001	D	0.88833	0.6544	L	0.48260	1.515	0.80722	D	1	P;D;D;D;D	0.76494	0.951;0.999;0.995;0.999;0.999	P;D;D;D;D	0.68621	0.717;0.932;0.932;0.959;0.932	D	0.88888	0.3344	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	42;42;42;42;42	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	T	42	ENSP00000387936:A42T;ENSP00000363304:A42T;ENSP00000397729:A42T;ENSP00000363297:A42T;ENSP00000363294:A42T;ENSP00000353483:A42T;ENSP00000363291:A42T;ENSP00000363289:A42T;ENSP00000378974:A42T	ENSP00000353483:A42T	A	+	1	0	MAPK8	49282902	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.724000	0.74747	2.937000	0.99478	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1	1	0	1	44	259	0	52	1	9.998663e-01	24	57	0	52	2		0	0	0	0	0	2	1	1	43	256	0	52	2								-19.943000	1	1	121410	1	28	1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
MAPK8	5599	broad.mit.edu	37	10	49639287	49639287	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49639287T>G	ENST00000374189.1	+	11	1293	c.1112T>G	c.(1111-1113)gTt>gGt	p.V371G	MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G|MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G			P45983	MK08_HUMAN	mitogen-activated protein kinase 8			34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)			AAGAATGGAGTTATACGGGGG	0.373000																								0							SO:0001583	missense			ENST00000374189.1	1	1	hg19	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620018	0.87460	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000395611	T;T;T;T;T;T	0.75367	-0.92;-0.9;-0.9;-0.92;-0.93;-0.74	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.75447	2.3	0.80722	D	1	D;B;B;B;B	0.54601	0.967;0.125;0.001;0.001;0.257	D;B;B;B;B	0.64595	0.927;0.096;0.002;0.002;0.287	D	0.83661	0.0161	10	0.34782	T	0.22	.	16.2107	0.82151	0.0:0.0:0.0:1.0	.	295;371;371;371;371	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	G	371;371;371;371;371;295	ENSP00000363304:V371G;ENSP00000363297:V371G;ENSP00000363294:V371G;ENSP00000353483:V371G;ENSP00000363291:V371G;ENSP00000378974:V295G	ENSP00000353483:V371G	V	+	2	0	MAPK8	49309293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.852000	0.86927	2.293000	0.77203	0.477000	0.44152	GTT		TCGA-IB-7651-01A-11D-2154-08	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1	1	0	0	8	176	0	36	1	9.739880e-01	6	138	0	36	2		0	0	0	0	0	2	1	9.896216e-01	8	175	0	36	2								-10.731400	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.520000	0.250000	0.910000	0.500000	0.548456	0.520000	0	3.600000e-01	7.200000e-01
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	p.R31C(1)		18					AAGTCAAGGCGCTTTTTCCCA	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000374160.3	1	1	hg19	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065149	0.76187	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.53206	0.63;0.63	6.06	6.06	0.98353	.	0.109676	0.56097	D	0.000023	T	0.61123	0.2322	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55418	-0.8144	9	.	.	.	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	31	Q8N456	LRC18_HUMAN	C	31	ENSP00000363275:R31C;ENSP00000298124:R31C	.	R	-	1	0	LRRC18	49792116	1.000000	0.71417	0.956000	0.39512	0.917000	0.54804	5.111000	0.64628	2.880000	0.98712	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	1	0	1	35	184	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	34	182	0	60	2								-20.000000	1	1	121412	4	37	1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
AKR1C1	1645	broad.mit.edu	37	10	5014837	5014837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5014837C>T	ENST00000380872.4	+	7	934	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1			13				Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GGCAAAAAAGCACAAGCGAAC	0.597000													Colon(130;2054 2316 13360 15380)											0							SO:0001583	missense			ENST00000380872.4	1	1	hg19	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.885545	0.00532	.	.	ENSG00000187134	ENST00000434459;ENST00000380872	T;T	0.50277	0.75;0.75	1.97	-0.0292	0.13919	NADP-dependent oxidoreductase domain (3);	0.510657	0.19036	N	0.124408	T	0.15739	0.0379	N	0.01686	-0.76	0.34677	D	0.724286	B	0.15473	0.013	B	0.26693	0.072	T	0.24835	-1.0149	10	0.07482	T	0.82	.	4.8837	0.13692	0.0:0.4389:0.0:0.5611	.	248	Q04828	AK1C1_HUMAN	Y	248	ENSP00000412248:H248Y;ENSP00000370254:H248Y	ENSP00000370254:H248Y	H	+	1	0	AKR1C1	5004837	0.976000	0.34144	0.060000	0.19600	0.317000	0.28152	0.882000	0.28186	-0.016000	0.14127	0.305000	0.20034	CAC		TCGA-IB-7651-01A-11D-2154-08	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	0	0	0	93	367	0	84	0	8.619699e-01	0	16	0	84	2		0	0	0	0	0	2	1	1	86	312	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf71	118461	broad.mit.edu	37	10	50531186	50531186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50531186C>T	ENST00000374144.3	+	3	884	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71			1					AGGAGGGTGCCCGCTGAAGTT	0.532000																								0							SO:0001583	missense			ENST00000374144.3	1	1	hg19	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953322	0.18431	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.12672	2.66;3.8	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000139	T	0.09423	0.0232	L	0.46157	1.445	0.47547	D	0.999457	P	0.40970	0.734	B	0.38500	0.275	T	0.14587	-1.0467	10	0.02654	T	1	.	5.5496	0.17083	0.1932:0.6873:0.0:0.1195	.	199	Q711Q0-3	.	L	199	ENSP00000318713:P199L;ENSP00000363259:P199L	ENSP00000318713:P199L	P	+	2	0	C10orf71	50201192	0.998000	0.40836	0.989000	0.46669	0.997000	0.91878	3.477000	0.53151	2.530000	0.85305	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	1	0	1	39	187	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	38	183	0	65	2								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DRGX	644168	broad.mit.edu	37	10	50574348	50574348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50574348C>T	ENST00000374139.2	-	6	615	c.605G>A	c.(604-606)cGc>cAc	p.R202H	DRGX_ENST00000434016.1_Missense_Mutation_p.R207H			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox			11					GCTGGCCGTGCGGTTACTCTG	0.637000																								0							SO:0001583	missense			ENST00000374139.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	34	5.366093	0.95900	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.96554	-4.05;-4.05	5.54	5.54	0.83059	.	0.107337	0.64402	D	0.000003	D	0.96725	0.8931	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97860	1.0280	10	0.87932	D	0	.	19.4819	0.95013	0.0:1.0:0.0:0.0	.	207	C9JW76	.	H	202;207	ENSP00000363254:R202H;ENSP00000401653:R207H	ENSP00000363254:R202H	R	-	2	0	DRGX	50244354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.746000	0.68681	2.595000	0.87683	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	0	0	1	103	357	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	101	352	0	76	2								-4.242128	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DRGX	644168	broad.mit.edu	37	10	50599296	50599296	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50599296A>T	ENST00000374139.2	-	2	56	c.46T>A	c.(46-48)Ttt>Att	p.F16I	DRGX_ENST00000434016.1_Missense_Mutation_p.F21I			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox			11					TGATTGCCAAAGGTTGCAGTG	0.567000																								0							SO:0001583	missense			ENST00000374139.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	25.9	4.687933	0.88639	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95518	-3.73;-2.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.95023	0.8162	10	0.34782	T	0.22	.	16.17	0.81801	1.0:0.0:0.0:0.0	.	21	C9JW76	.	I	16;21	ENSP00000363254:F16I;ENSP00000401653:F21I	ENSP00000363254:F16I	F	-	1	0	DRGX	50269302	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	8.575000	0.90766	2.224000	0.72417	0.459000	0.35465	TTT		TCGA-IB-7651-01A-11D-2154-08	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	0	0	1	17	84	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.999740e-01	17	81	0	20	2								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	0.999370	0.990000	1	9.900000e-01	1
ERCC6	2074	broad.mit.edu	37	10	50678905	50678905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50678905C>T	ENST00000355832.5	-	18	3179	c.3101G>A	c.(3100-3102)tGc>tAc	p.C1034Y	ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6			64					TTTTAGATGGCATTTGGGTGT	0.368000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000355832.5	1	1	hg19	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.506884	0.00992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82167	-1.58;-1.32	5.95	0.313	0.15842	.	.	.	.	.	T	0.66268	0.2772	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.16802	0.016;0.019	B;B	0.09377	0.002;0.004	T	0.50092	-0.8868	9	0.27785	T	0.31	0.0041	4.9369	0.13944	0.1424:0.4866:0.0:0.371	.	1034;411	Q03468;Q59FF6	ERCC6_HUMAN;.	Y	1034;411;404	ENSP00000348089:C1034Y;ENSP00000445134:C404Y	ENSP00000348089:C1034Y	C	-	2	0	ERCC6	50348911	0.524000	0.26282	0.194000	0.23346	0.516000	0.34256	-0.170000	0.09897	0.126000	0.18424	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	0	0	1	118	611	0	114	1	9.037376e-01	11	12	0	114	2		0	0	0	0	0	2	1	1	118	603	0	114	2								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC18A3	6572	broad.mit.edu	37	10	50819143	50819143	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819143C>T	ENST00000374115.3	+	1	797	c.357C>T	c.(355-357)agC>agT	p.S119S	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3			43					CTACGGAGAGCGAAGACGTGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000374115.3	1	1	hg19	CCDS7231.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	1	0	0	55	553	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1	55	550	0	114	2								-15.565190	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.800000	1.000000	1.000000	0.972929	0.990000	1	9.200000e-01	1
SLC18A3	6572	broad.mit.edu	37	10	50819427	50819427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819427T>C	ENST00000374115.3	+	1	1081	c.641T>C	c.(640-642)cTg>cCg	p.L214P	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3			43					AGTCGTGCACTGGGCGTGGCG	0.667000																								0							SO:0001583	missense			ENST00000374115.3	0	1	hg19	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230827	0.79688	.	.	ENSG00000187714	ENST00000374115	T	0.61040	0.14	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.52532	U	0.000064	T	0.79764	0.4502	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84248	0.0476	10	0.87932	D	0	-1.6294	15.1805	0.72952	0.0:0.0:0.0:1.0	.	214	Q16572	VACHT_HUMAN	P	214	ENSP00000363229:L214P	ENSP00000363229:L214P	L	+	2	0	SLC18A3	50489433	1.000000	0.71417	0.957000	0.39632	0.966000	0.64601	7.846000	0.86887	1.994000	0.58287	0.459000	0.35465	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	0	0	0	5	126	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.375196e-01	5	125	0	25	2								-8.766062	1	0	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.470000	0.180000	0.920000	0.430000	0.504651	0.470000	0	3.000000e-01	6.900000e-01
SLC18A3	6572	broad.mit.edu	37	10	50820002	50820002	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50820002G>A	ENST00000374115.3	+	1	1656	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3			43					GCCCACGCTCGCCTTCCTGGT	0.637000																								0							SO:0001583	missense			ENST00000374115.3	1	1	hg19	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108957	0.77096	.	.	ENSG00000187714	ENST00000374115	T	0.57907	0.37	5.11	4.2	0.49525	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061558	0.64402	U	0.000005	T	0.73621	0.3610	M	0.84683	2.71	0.48040	D	0.999572	D	0.76494	0.999	D	0.72982	0.979	T	0.78404	-0.2217	10	0.87932	D	0	-5.4998	13.2042	0.59787	0.077:0.0:0.923:0.0	.	406	Q16572	VACHT_HUMAN	T	406	ENSP00000363229:A406T	ENSP00000363229:A406T	A	+	1	0	SLC18A3	50490008	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.777000	0.99008	1.153000	0.42468	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	1	0	0	19	199	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	9.999920e-01	19	197	0	40	2								-19.999990	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.640000	1.000000	1.000000	0.931010	0.990000	1	8.100000e-01	1
CHAT	1103	broad.mit.edu	37	10	50835752	50835752	+	Silent	SNP	C	C	T	rs145203976	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50835752C>T	ENST00000337653.2	+	7	1185	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000395559.2_Silent_p.D226D|CHAT_ENST00000395562.2_Silent_p.D262D|CHAT_ENST00000339797.1_Silent_p.D226D|CHAT_ENST00000351556.3_Silent_p.D226D	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase			56		all_neural(218;0.107)		Choline(DB00122)|Nicotine(DB00184)	CCAACGAGGACGAGCGTTTGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000337653.2	1	1	hg19	CCDS7232.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	1	130	518	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	129	510	0	94	2								-20.000000	1	1	121412	7	43	1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHAT	1103	broad.mit.edu	37	10	50854680	50854680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50854680G>T	ENST00000337653.2	+	8	1394	c.1241G>T	c.(1240-1242)aGc>aTc	p.S414I	CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000395559.2_Missense_Mutation_p.S296I|CHAT_ENST00000395562.2_Missense_Mutation_p.S332I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I|CHAT_ENST00000351556.3_Missense_Mutation_p.S296I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase			56		all_neural(218;0.107)		Choline(DB00122)|Nicotine(DB00184)	GGAGGCTACAGCAAGAACGGG	0.632000																								0							SO:0001583	missense			ENST00000337653.2	1	1	hg19	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608387	0.46527	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.46	5.46	0.80206	.	0.273852	0.41823	D	0.000806	D	0.82710	0.5096	N	0.20986	0.625	0.32519	N	0.536469	B;P	0.49635	0.314;0.926	B;P	0.45377	0.129;0.478	D	0.85254	0.1046	10	0.40728	T	0.16	-21.1977	10.4463	0.44497	0.1195:0.0:0.8805:0.0	.	296;414	F8W8I2;P28329	.;CLAT_HUMAN	I	296;296;296;414;332;296	ENSP00000343486:S296I;ENSP00000345878:S296I;ENSP00000378926:S296I;ENSP00000337103:S414I;ENSP00000378929:S332I;ENSP00000390521:S296I	ENSP00000337103:S414I	S	+	2	0	CHAT	50524686	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	3.560000	0.53763	2.569000	0.86673	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	1	54	259	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	53	257	0	49	2								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHAT	1103	broad.mit.edu	37	10	50860033	50860033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50860033C>A	ENST00000337653.2	+	11	1768	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I|CHAT_ENST00000395562.2_Missense_Mutation_p.L457I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I|CHAT_ENST00000351556.3_Missense_Mutation_p.L421I	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase			56		all_neural(218;0.107)		Choline(DB00122)|Nicotine(DB00184)	CCAGGTGGCCCTCCAGCTGGC	0.488000																								0							SO:0001583	missense			ENST00000337653.2	1	1	hg19	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440163	0.63067	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.85	4.85	0.62838	.	0.064020	0.64402	D	0.000009	D	0.93331	0.7874	L	0.60845	1.875	0.58432	D	0.999996	P;P	0.48016	0.904;0.761	P;P	0.57679	0.795;0.825	D	0.93744	0.7053	10	0.56958	D	0.05	-19.8669	17.9506	0.89052	0.0:1.0:0.0:0.0	.	421;539	F8W8I2;P28329	.;CLAT_HUMAN	I	421;421;421;539;457;421	ENSP00000343486:L421I;ENSP00000345878:L421I;ENSP00000378926:L421I;ENSP00000337103:L539I;ENSP00000378929:L457I;ENSP00000390521:L421I	ENSP00000337103:L539I	L	+	1	0	CHAT	50530039	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.675000	0.61619	2.242000	0.73789	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	0	11	180	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	9.982934e-01	11	176	0	56	2								-3.020767	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.680000	0.360000	1.000000	1.000000	0.698217	0.680000	0	5.000000e-01	8.900000e-01
OGDHL	55753	broad.mit.edu	37	10	50955097	50955097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50955097C>T	ENST00000374103.4	-	9	1230	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like			61					GGCATCTCCACGGTAGAACTG	0.642000																								0							SO:0001583	missense			ENST00000374103.4	1	1	hg19	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160670	0.57368	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.14640	2.49;2.49;3.34	5.97	5.07	0.68467	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.14830	0.0358	L	0.58969	1.84	0.80722	D	1	B;B;P	0.41420	0.305;0.052;0.749	B;B;B	0.34652	0.118;0.083;0.187	T	0.03587	-1.1022	10	0.31617	T	0.26	.	15.1812	0.72960	0.0:0.9326:0.0:0.0674	.	325;173;382	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	382;325;173	ENSP00000363216:R382H;ENSP00000401356:R325H;ENSP00000390240:R173H	ENSP00000363216:R382H	R	-	2	0	OGDHL	50625103	1.000000	0.71417	0.990000	0.47175	0.748000	0.42578	7.574000	0.82434	1.542000	0.49330	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	1	0	1	79	362	0	99	0	4.375064e-01	1	7	0	99	2		0	0	0	0	0	2	1	1	77	354	0	99	2								-20.000000	1	1	121412	3	36	1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGAP7	0	broad.mit.edu	37	10	51465371	51465371	+	Missense_Mutation	SNP	G	G	A	rs77023418	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465371G>A	ENST00000374095.5	-	7	1210	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN				11					CTTGGGGATGGTGGTGCTGGA	0.522000																								0							SO:0001583	missense			ENST00000374095.5	1	1	hg19	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.113683	0.37339	.	.	ENSG00000204169	ENST00000374095	T	0.55052	0.54	.	.	.	Pleckstrin homology domain (3);	0.394968	0.26765	N	0.022613	T	0.50871	0.1641	M	0.64997	1.995	0.43133	D	0.994876	P	0.48230	0.907	P	0.48738	0.588	T	0.45131	-0.9282	9	0.44086	T	0.13	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	362	Q5VUJ5	AGAP7_HUMAN	I	362	ENSP00000363208:T362I	ENSP00000363208:T362I	T	-	2	0	AGAP7	51135377	1.000000	0.71417	0.035000	0.18076	0.035000	0.12851	3.648000	0.54410	0.172000	0.19760	0.175000	0.17021	ACC		TCGA-IB-7651-01A-11D-2154-08	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1	0	0	1	199	813	1	191		0	0	0	1	191	2		0	0	0	0	0	2	1	1	110	477	1	193	12								-3.357349	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGAP7	0	broad.mit.edu	37	10	51465483	51465483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465483C>T	ENST00000374095.5	-	7	1098	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN				11					GCCAATGTGGCTAGGGATGGC	0.463000																								0							SO:0001583	missense			ENST00000374095.5	1	1	hg19	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400457	0.42613	.	.	ENSG00000204169	ENST00000374095	T	0.56776	0.44	.	.	.	Pleckstrin homology domain (3);	0.064498	0.64402	D	0.000011	T	0.65123	0.2661	M	0.79693	2.465	0.36548	D	0.871687	D	0.53462	0.96	D	0.63703	0.917	T	0.66520	-0.5903	9	0.51188	T	0.08	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	325	Q5VUJ5	AGAP7_HUMAN	T	325	ENSP00000363208:A325T	ENSP00000363208:A325T	A	-	1	0	AGAP7	51135489	0.967000	0.33354	0.011000	0.14972	0.011000	0.07611	2.985000	0.49362	0.172000	0.19760	0.175000	0.17021	GCC		TCGA-IB-7651-01A-11D-2154-08	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1	1	0	1	260	1030	0	257		0	0	0	0	257	2		0	0	0	0	0	2	1	1	223	870	0	258	2								-20.000000	1	1	0	0		1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKR1C3	8644	broad.mit.edu	37	10	5147842	5147842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5147842G>A	ENST00000380554.3	+	8	1554	c.902G>A	c.(901-903)aGa>aAa	p.R301K	AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3			14				Bimatoprost(DB00905)|Doxorubicin(DB00997)	GGCCTAGACAGAAATCTCCAC	0.358000																								0							SO:0001583	missense			ENST00000380554.3	1	1	hg19	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443841	0.12164	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.50548	0.74;0.74	2.63	1.65	0.23941	NADP-dependent oxidoreductase domain (2);	0.425790	0.21143	N	0.079453	T	0.19167	0.0460	N	0.02539	-0.55	0.29636	N	0.845116	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.17979	0.02;0.014;0.008	T	0.18398	-1.0338	10	0.21014	T	0.42	.	7.7877	0.29101	0.1407:0.0:0.8593:0.0	.	182;301;301	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	K	182;301	ENSP00000401327:R182K;ENSP00000369927:R301K	ENSP00000369927:R301K	R	+	2	0	AKR1C3	5137842	1.000000	0.71417	0.016000	0.15963	0.046000	0.14306	1.844000	0.39269	0.391000	0.25143	0.491000	0.48974	AGA		TCGA-IB-7651-01A-11D-2154-08	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	1	0	1	38	152	0	28	1	1	280	361	0	28	2		0	0	0	0	0	2	1	1	37	148	0	28	2								-19.999940	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA4	8031	broad.mit.edu	37	10	51584652	51584652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51584652G>A	ENST00000443446.1	+	8	980	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000452682.1_Missense_Mutation_p.G267R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	p.G267W(1)		5					CAATAATGTCGGGGGAAACCT	0.388000			T	RET	papillary thyroid										Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000443446.1	1	1	hg19	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.62|14.62	2.591007|2.591007	0.46214|0.46214	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	6.03|6.03	4.9|4.9	0.64082|0.64082	.|.	0.054224|.	0.85682|.	D|.	0.000000|.	T|T	0.26882|0.26882	0.0658|0.0658	N|N	0.08118|0.08118	0|0	0.28431|0.28431	N|N	0.917286|0.917286	B;B;B;P|.	0.40083|.	0.233;0.107;0.107;0.702|.	B;B;B;B|.	0.31245|.	0.007;0.007;0.007;0.126|.	T|T	0.17198|0.17198	-1.0377|-1.0377	10|5	0.59425|.	D|.	0.04|.	-29.3647|-29.3647	13.562|13.562	0.61795|0.61795	0.0:0.0:0.1311:0.8689|0.0:0.0:0.1311:0.8689	.|.	151;267;267;251|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	R|Q	267;267;151;251;85;251;251;251|166	ENSP00000405146:G267R;ENSP00000395465:G267R;ENSP00000393053:G151R;ENSP00000363200:G251R;ENSP00000411018:G85R;ENSP00000344552:G251R;ENSP00000363195:G251R;ENSP00000390713:G251R|.	ENSP00000344552:G251R|.	G|R	+|+	1|2	0|0	NCOA4|NCOA4	51254658|51254658	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.704000|0.704000	0.40688|0.40688	5.510000|5.510000	0.67018|0.67018	1.104000|1.104000	0.41587|0.41587	-0.256000|-0.256000	0.11100|0.11100	GGG|CGG		TCGA-IB-7651-01A-11D-2154-08	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	1	0	1	102	401	0	104	1	1	143	569	0	104	2		0	0	0	0	0	2	1	1	100	388	0	103	2								-2.819723	1	1	121412	9	35	1	0	1	1	1.978128	0	0.170000	2.060000	1.643174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGMS1	259230	broad.mit.edu	37	10	52103414	52103414	+	Missense_Mutation	SNP	G	G	A	rs141885016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52103414G>A	ENST00000361781.2	-	7	1420	c.461C>T	c.(460-462)tCg>tTg	p.S154L	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1			16					GTGGACGACCGAGATCATCAC	0.507000																								0							SO:0001583	missense			ENST00000361781.2	1	1	hg19	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310062	0.81247	0.0	1.16E-4	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.45668	0.98;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.52011	1.625	0.58432	D	0.999998	D	0.57571	0.98	P	0.48488	0.579	T	0.47355	-0.9124	10	0.56958	D	0.05	-9.9208	17.1838	0.86861	0.0:0.0:1.0:0.0	.	160	Q86VZ5	SMS1_HUMAN	L	154	ENSP00000354829:S154L;ENSP00000355235:S154L	ENSP00000355235:S154L	S	-	2	0	SGMS1	51773420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.648000	0.89879	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	1	0	1	66	231	0	51	1	9.999868e-01	10	51	0	51	2		0	0	0	0	0	2	1	1	66	229	0	50	2								-4.021166	1	1	121410	6	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKR1C4	1109	broad.mit.edu	37	10	5247767	5247767	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5247767C>T	ENST00000380448.1	+	6	670	c.417C>T	c.(415-417)ttC>ttT	p.F139F	AKR1C4_ENST00000263126.1_Silent_p.F139F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	p.F139F(1)		18					AAGTAATATTCGACACAGTGG	0.448000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000380448.1	1	1	hg19	CCDS7064.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	1	0	1	55	227	0	72	1	3.943662e-02	2	0	0	72	2		0	0	0	0	0	2	1	1	54	220	0	72	2								-3.395152	1	1	121412	2	32	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595854G>A	ENST00000373993.1	-	4	628	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000374001.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000395489.2_Missense_Mutation_p.A188V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	p.A203V(2)|p.A195V(2)		29					TTTCCTCCTCGCCATGGCAGC	0.488000																								4	Substitution - Missense(4)						SO:0001583	missense			ENST00000373993.1	1	1	hg19	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550854	0.86127	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.04	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046025	0.85682	D	0.000000	T	0.64616	0.2614	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.993;0.998	D;P;P;P	0.64042	0.921;0.893;0.73;0.888	T	0.71255	-0.4647	10	0.87932	D	0	-9.2963	16.5645	0.84575	0.0:0.1418:0.8582:0.0	.	188;195;195;203	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	195;195;195;203;195;195;178;188;195	ENSP00000363113:A195V;ENSP00000363105:A195V;ENSP00000363109:A195V;ENSP00000363107:A203V;ENSP00000282641:A195V;ENSP00000378873:A195V;ENSP00000378868:A188V;ENSP00000397953:A195V	ENSP00000282641:A195V	A	-	2	0	A1CF	52265860	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.811000	0.86092	2.873000	0.98535	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	1	0	0	39	423	0	88	0	2.143297e-02	0	3	0	88	2		0	0	0	0	0	2	1	1	39	405	0	86	2								-11.229620	1	0	121406	2	33	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.730000	1.000000	1.000000	0.949834	0.990000	1	8.600000e-01	1
TUBAL3	79861	broad.mit.edu	37	10	5435806	5435806	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5435806T>G	ENST00000380419.3	-	4	1052	c.1015A>C	c.(1015-1017)Atc>Ctc	p.I339L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3			25					GTGGCTGCGATTGCTGCATTC	0.557000																								0							SO:0001583	missense			ENST00000380419.3	1	1	hg19	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718580	0.48622	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.81078	-1.45;-1.45	4.41	4.41	0.53225	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	D	0.000045	D	0.89846	0.6833	M	0.83603	2.65	0.45307	D	0.998303	P;P	0.46784	0.884;0.766	D;D	0.79784	0.993;0.987	D	0.91185	0.4979	10	0.87932	D	0	.	13.1953	0.59734	0.0:0.0:0.0:1.0	.	299;339	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	L	339;299	ENSP00000369784:I339L;ENSP00000418799:I299L	ENSP00000369784:I339L	I	-	1	0	TUBAL3	5425806	1.000000	0.71417	0.199000	0.23439	0.008000	0.06430	7.851000	0.86920	1.949000	0.56562	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	1	0	1	44	200	0	44	1	6.671647e-01	7	5	0	44	2		0	0	0	0	0	2	1	1	43	198	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NET1	10276	broad.mit.edu	37	10	5498209	5498209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5498209C>T	ENST00000355029.4	+	11	1499	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*|NET1_ENST00000542715.1_Nonsense_Mutation_p.R272*	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1			23					AGGCTCCTTTCGAGGAGCTTT	0.448000																								0							SO:0001587	stop_gained			ENST00000355029.4	0	1	hg19	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	37	6.539833	0.97650	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	.	.	.	5.64	4.67	0.58626	.	0.000000	0.34628	N	0.003815	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.343	12.8877	0.58053	0.2509:0.7491:0.0:0.0	.	.	.	.	X	453;272;399	.	ENSP00000347134:R453X	R	+	1	2	NET1	5488209	1.000000	0.71417	0.998000	0.56505	0.207000	0.24258	2.854000	0.48325	2.652000	0.90054	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	0	0	0	33	168	1	47	1	9.989454e-01	90	117	1	47	15		0	0	0	0	0	2	1	9.984262e-01	33	169	1	47	15								-20.000000	1	1	121400	1	19	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	55582479	55582479	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55582479G>T	ENST00000320301.6	-	33	5401	c.5007C>A	c.(5005-5007)ttC>ttA	p.F1669L	PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.F1671L|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000414778.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			TGGAGAATGAGAAGTGAGGCC	0.418000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695374	0.30052	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.54479	0.6;0.57;0.61;0.58;0.58;0.6	4.95	1.56	0.23342	.	.	.	.	.	T	0.31918	0.0812	N	0.19112	0.55	0.25252	N	0.989667	B;B;B;B;B;B;B;B	0.25850	0.136;0.039;0.039;0.064;0.002;0.039;0.136;0.039	B;B;B;B;B;B;B;B	0.25759	0.063;0.039;0.039;0.028;0.003;0.039;0.055;0.039	T	0.20638	-1.0269	9	0.18710	T	0.47	.	6.3863	0.21561	0.5148:0.0:0.4852:0.0	.	1646;1669;1671;1676;1600;1629;1666;1669	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1629;1671;1646;1669;1666;1676;1600	ENSP00000378820:F1629L;ENSP00000354950:F1671L;ENSP00000378821:F1646L;ENSP00000322604:F1669L;ENSP00000378818:F1666L;ENSP00000412628:F1600L	ENSP00000322604:F1669L	F	-	3	2	PCDH15	55252485	0.992000	0.36948	0.808000	0.32385	0.419000	0.31324	0.704000	0.25661	0.480000	0.27534	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	97	462	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	94	452	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	55587172	55587172	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55587172C>T	ENST00000320301.6	-	32	4742	c.4348G>A	c.(4348-4350)Gaa>Aaa	p.E1450K	PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1457K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			TCTCCAAGTTCTTCATAGAGA	0.552000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692534	0.96793	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.65549	0.38;0.4;0.23;0.08;0.27;-0.05;-0.09;-0.02;-0.1;-0.11;-0.16	5.64	5.64	0.86602	.	.	.	.	.	T	0.77698	0.4169	L	0.61218	1.895	0.58432	D	0.999999	P;P;P;P;P;P;P;D;D;D;D;D;P	0.71674	0.773;0.919;0.864;0.749;0.946;0.864;0.773;0.998;0.995;0.997;0.997;0.995;0.919	B;P;B;B;P;B;B;D;P;D;P;P;P	0.79784	0.354;0.507;0.407;0.284;0.776;0.407;0.354;0.993;0.872;0.91;0.872;0.9;0.507	T	0.78687	-0.2107	9	0.87932	D	0	.	17.8351	0.88693	0.0:1.0:0.0:0.0	.	1425;1450;1450;1455;1379;1410;1447;1450;1457;1457;1450;1452;1450	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1457;1452;1450;1450;1061;1457;1410;1450;1425;1450;1447;1455;1379	ENSP00000363076:E1457K;ENSP00000410304:E1452K;ENSP00000378826:E1450K;ENSP00000386693:E1061K;ENSP00000378832:E1457K;ENSP00000378820:E1410K;ENSP00000354950:E1450K;ENSP00000378821:E1425K;ENSP00000322604:E1450K;ENSP00000378818:E1447K;ENSP00000412628:E1379K	ENSP00000322604:E1450K	E	-	1	0	PCDH15	55257178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.840000	0.75369	2.807000	0.96579	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	0	112	560	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	109	552	0	95	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	55600201	55600201	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600201A>T	ENST00000320301.6	-	29	4256	c.3862T>A	c.(3862-3864)Tcc>Acc	p.S1288T	PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T|PCDH15_ENST00000373965.2_Missense_Mutation_p.S1295T|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			GCTCCAATGGACTCCACTACG	0.458000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455461	0.63401	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58506	0.45;0.49;0.44;0.45;0.4;0.36;0.33;0.39;0.34;0.34;0.34	5.43	5.43	0.79202	.	.	.	.	.	T	0.62974	0.2472	N	0.24115	0.695	0.80722	D	1	D;P;P;P;B;P;D;B;B;B;B;B;P	0.57257	0.979;0.719;0.589;0.589;0.224;0.719;0.979;0.025;0.131;0.131;0.052;0.172;0.589	D;B;B;B;B;B;D;B;B;B;B;B;B	0.74348	0.983;0.241;0.145;0.145;0.145;0.241;0.983;0.061;0.109;0.109;0.083;0.145;0.145	T	0.61888	-0.6970	9	0.32370	T	0.25	.	15.4284	0.75072	1.0:0.0:0.0:0.0	.	1266;1288;1288;1293;1217;1251;1288;1288;1295;1295;1288;1293;1288	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1295;1293;1288;1288;899;1295;1251;1288;1266;1288;1288;1293;1217	ENSP00000363076:S1295T;ENSP00000410304:S1293T;ENSP00000378826:S1288T;ENSP00000386693:S899T;ENSP00000378832:S1295T;ENSP00000378820:S1251T;ENSP00000354950:S1288T;ENSP00000378821:S1266T;ENSP00000322604:S1288T;ENSP00000378818:S1288T;ENSP00000412628:S1217T	ENSP00000322604:S1288T	S	-	1	0	PCDH15	55270207	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.059000	0.64306	2.182000	0.69389	0.472000	0.43445	TCC		TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	73	283	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	71	280	0	80	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	55600233	55600233	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600233T>G	ENST00000320301.6	-	29	4224	c.3830A>C	c.(3829-3831)gAa>gCa	p.E1277A	PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1284A|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			AGGAATTTGTTCCTGAACATA	0.428000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414872	0.83449	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58358	0.41;0.46;0.4;0.4;0.36;0.37;0.34;0.4;0.35;0.35;0.35	5.43	5.43	0.79202	.	.	.	.	.	T	0.45895	0.1365	N	0.19112	0.55	0.43399	D	0.995528	P;P;P;P;P;P;P;B;P;P;P;P;P	0.49090	0.773;0.864;0.864;0.864;0.753;0.864;0.773;0.288;0.773;0.773;0.647;0.774;0.919	B;B;B;B;B;B;B;B;P;P;B;B;P	0.46389	0.257;0.345;0.345;0.345;0.345;0.345;0.257;0.242;0.515;0.515;0.345;0.345;0.496	T	0.51919	-0.8644	9	0.66056	D	0.02	.	15.4284	0.75072	0.0:0.0:0.0:1.0	.	1255;1277;1277;1282;1206;1240;1277;1277;1284;1284;1277;1282;1277	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	1284;1282;1277;1277;888;1284;1240;1277;1255;1277;1277;1282;1206	ENSP00000363076:E1284A;ENSP00000410304:E1282A;ENSP00000378826:E1277A;ENSP00000386693:E888A;ENSP00000378832:E1284A;ENSP00000378820:E1240A;ENSP00000354950:E1277A;ENSP00000378821:E1255A;ENSP00000322604:E1277A;ENSP00000378818:E1277A;ENSP00000412628:E1206A	ENSP00000322604:E1277A	E	-	2	0	PCDH15	55270239	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.986000	0.88173	2.182000	0.69389	0.472000	0.43445	GAA		TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	58	234	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	56	230	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	55626499	55626499	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55626499G>T	ENST00000320301.6	-	27	4014	c.3620C>A	c.(3619-3621)gCt>gAt	p.A1207D	PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1214D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			GAAGAGCATAGCAGTTTTGAT	0.413000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003174	0.93287	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75997	0.3926	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.996;1.0;1.0;1.0;1.0;0.998;0.998;0.998;1.0;0.998	T	0.77765	-0.2465	9	0.72032	D	0.01	.	19.6571	0.95847	0.0:0.0:1.0:0.0	.	1185;1207;1207;1212;1136;1170;1207;1207;1214;1214;1207;1212;1207	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	1214;1212;1207;1207;818;1214;1170;1207;1185;1207;1207;1212;1136	ENSP00000363076:A1214D;ENSP00000410304:A1212D;ENSP00000378826:A1207D;ENSP00000386693:A818D;ENSP00000378832:A1214D;ENSP00000378820:A1170D;ENSP00000354950:A1207D;ENSP00000378821:A1185D;ENSP00000322604:A1207D;ENSP00000378818:A1207D;ENSP00000412628:A1136D	ENSP00000322604:A1207D	A	-	2	0	PCDH15	55296505	1.000000	0.71417	0.960000	0.40013	0.957000	0.61999	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	0	41	398	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	41	394	0	81	2								-13.303420	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.810000	1.000000	1.000000	0.980779	0.990000	1	9.500000e-01	1
CALML3	810	broad.mit.edu	37	10	5566985	5566985	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5566985G>A	ENST00000315238.1	+	0	62				RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000543008.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3			5					CAGCAGCCGGGCTGCGGCACT	0.682000													Colon(173;2070 2647 27580 52203)											0											ENST00000315238.1	0	1	hg19	CCDS7069.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	0	0	0	19	59	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.999966e-01	19	59	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	55719536	55719536	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55719536G>T	ENST00000320301.6	-	23	3472	c.3078C>A	c.(3076-3078)gtC>gtA	p.V1026V	PCDH15_ENST00000395433.1_Silent_p.V1004V|PCDH15_ENST00000373965.2_Silent_p.V1033V|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000414778.1_Silent_p.V1031V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	p.V1031V(1)|p.V1026V(1)		237		Melanoma(3;0.117)|Lung SC(717;0.238)			CAGGATGTAAGACAAGAATCT	0.398000										HNSCC(58;0.16)														2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000320301.6	1	1	hg19	CCDS7248.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	51	181	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	50	176	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	55826621	55826621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55826621C>A	ENST00000320301.6	-	18	2510	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L	PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V713L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			TCTGTCACCACTATGTTTACT	0.383000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.19;0.72	5.85	4.94	0.65067	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.65575	0.2704	L	0.31526	0.94	0.42527	D	0.993024	D;P;D;P;D;D;D;P;D;P;P;P;D;P;D	0.65815	0.995;0.939;0.974;0.743;0.992;0.988;0.995;0.884;0.97;0.939;0.949;0.884;0.958;0.942;0.988	D;P;P;P;P;P;D;P;P;P;P;P;P;P;D	0.75484	0.986;0.81;0.81;0.51;0.855;0.9;0.986;0.78;0.868;0.826;0.719;0.78;0.607;0.816;0.932	T	0.67522	-0.5649	9	0.46703	T	0.11	.	15.3458	0.74337	0.1409:0.8591:0.0:0.0	.	684;706;706;711;635;669;706;706;713;713;706;711;706;684;706	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	713;711;706;706;317;713;669;706;684;684;706;706;711;635;706	ENSP00000363076:V713L;ENSP00000410304:V711L;ENSP00000378826:V706L;ENSP00000386693:V317L;ENSP00000378832:V713L;ENSP00000378820:V669L;ENSP00000354950:V706L;ENSP00000378821:V684L;ENSP00000363068:V684L;ENSP00000322604:V706L;ENSP00000378818:V706L;ENSP00000412628:V635L;ENSP00000363066:V706L	ENSP00000322604:V706L	V	-	1	0	PCDH15	55496627	0.997000	0.39634	0.736000	0.30914	0.971000	0.66376	3.673000	0.54591	1.465000	0.48006	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	64	287	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	63	280	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	55892654	55892654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55892654G>T	ENST00000320301.6	-	15	2292	c.1898C>A	c.(1897-1899)gCt>gAt	p.A633D	PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A640D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			TAATAAAACAGCACCAACCCT	0.388000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721110	0.89205	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64940	0.2644	L	0.52266	1.64	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.987;1.0;1.0;1.0;1.0;0.999;1.0;0.972;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.985;0.966;1.0;1.0;0.998;0.995;0.992;0.998;0.946;0.996;0.992;0.998	T	0.60229	-0.7304	9	0.41790	T	0.15	.	18.9066	0.92464	0.0:0.0:1.0:0.0	.	611;633;633;638;596;633;633;640;640;633;638;633;611;633	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	640;638;633;633;244;640;633;596;633;611;611;633;633;638;633	ENSP00000363076:A640D;ENSP00000410304:A638D;ENSP00000378826:A633D;ENSP00000386693:A244D;ENSP00000378832:A640D;ENSP00000378833:A633D;ENSP00000378820:A596D;ENSP00000354950:A633D;ENSP00000378821:A611D;ENSP00000363068:A611D;ENSP00000322604:A633D;ENSP00000378818:A633D;ENSP00000363066:A633D	ENSP00000322604:A633D	A	-	2	0	PCDH15	55562660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.438000	0.97539	2.838000	0.97847	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	20	112	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	9.999963e-01	20	108	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999528	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	56077098	56077098	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56077098A>C	ENST00000320301.6	-	8	1203	c.809T>G	c.(808-810)cTt>cGt	p.L270R	PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R|PCDH15_ENST00000373965.2_Missense_Mutation_p.L270R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			GTTTGGCACAAGGACACAAGG	0.463000										HNSCC(58;0.16)														0							SO:0001583	missense			ENST00000320301.6	1	1	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204285	0.58234	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.31;0.33;0.26;0.28;0.32;0.55;0.46;0.23;0.15;0.19;0.18;0.15;0.15;0.23;0.36	4.77	4.77	0.60923	.	.	.	.	.	T	0.68118	0.2966	L	0.48362	1.52	0.32019	N	0.600995	D;P;P;B;D;P;D;D;P;B;D;D;D;D;P	0.76494	0.997;0.866;0.506;0.199;0.997;0.866;0.997;0.991;0.506;0.307;0.999;0.999;0.979;0.999;0.506	D;P;B;B;D;P;D;D;B;B;D;D;D;D;B	0.72338	0.958;0.521;0.217;0.099;0.968;0.521;0.958;0.954;0.292;0.217;0.968;0.977;0.951;0.968;0.217	T	0.70063	-0.4975	9	0.30078	T	0.28	.	14.2438	0.65975	1.0:0.0:0.0:0.0	.	248;270;270;275;270;233;270;270;270;270;270;275;270;248;270	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	270;275;270;270;270;270;270;270;233;270;248;248;270;270;275;270;270	ENSP00000363076:L270R;ENSP00000410304:L275R;ENSP00000378826:L270R;ENSP00000378832:L270R;ENSP00000378833:L270R;ENSP00000378829:L270R;ENSP00000378827:L270R;ENSP00000378820:L233R;ENSP00000354950:L270R;ENSP00000378821:L248R;ENSP00000363068:L248R;ENSP00000322604:L270R;ENSP00000378818:L270R;ENSP00000412628:L270R;ENSP00000363066:L270R	ENSP00000322604:L270R	L	-	2	0	PCDH15	55747104	0.999000	0.42202	0.983000	0.44433	0.998000	0.95712	7.394000	0.79862	1.901000	0.55032	0.455000	0.32223	CTT		TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	59	527	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	57	515	0	91	2								-20.000000	1	1	121406	3	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.920000	1.000000	1.000000	0.995770	0.990000	1	9.900000e-01	1
PCDH15	65217	broad.mit.edu	37	10	56129000	56129000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56129000G>A	ENST00000320301.6	-	5	748	c.354C>T	c.(352-354)gtC>gtT	p.V118V	PCDH15_ENST00000395433.1_Silent_p.V96V|PCDH15_ENST00000373965.2_Silent_p.V118V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			TGATGCACTGGACCTGCACCA	0.398000										HNSCC(58;0.16)														0							SO:0001819	synonymous_variant			ENST00000320301.6	1	1	hg19	CCDS7248.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	44	172	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	44	171	0	41	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GDI2	2665	broad.mit.edu	37	10	5810310	5810310	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5810310T>C	ENST00000380191.4	-	8	1147	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C|GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2			10					ATCTTTTACGTAGCTGGGGTC	0.468000																								0							SO:0001583	missense			ENST00000380191.4	0	1	hg19	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705581	0.68615	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.89658	3.05	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.85130	0.993;0.981;0.997	D	0.97490	1.0053	10	0.87932	D	0	-20.6714	16.1557	0.81666	0.0:0.0:0.0:1.0	.	290;241;286	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	C	286;119;114;290;241	ENSP00000369538:Y286C;ENSP00000387565:Y114C;ENSP00000369475:Y290C;ENSP00000369528:Y241C	ENSP00000369475:Y290C	Y	-	2	0	GDI2	5850316	1.000000	0.71417	0.932000	0.37286	0.354000	0.29330	7.919000	0.87513	2.291000	0.77112	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	1	0	1	52	206	0	43	1	1	220	855	0	43	2		0	0	0	0	0	2	1	1	51	202	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZWINT	11130	broad.mit.edu	37	10	58118426	58118426	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118426G>T	ENST00000373944.3	-	7	721	c.683C>A	c.(682-684)gCt>gAt	p.A228D	ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein			20					CTCAGCCTCAGCCTCAGGGAA	0.537000																								0							SO:0001583	missense			ENST00000373944.3	1	1	hg19	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978392	0.53720	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	3.73	2.78	0.32641	.	0.750699	0.11474	N	0.560436	T	0.53883	0.1824	L	0.60455	1.87	0.09310	N	1	P;P	0.51351	0.944;0.944	P;P	0.47470	0.548;0.548	T	0.45352	-0.9267	10	0.72032	D	0.01	-11.8392	8.9761	0.35937	0.0:0.2273:0.7727:0.0	.	181;228	A6NNV6;O95229	.;ZWINT_HUMAN	D	228;228;108;181	ENSP00000363055:A228D;ENSP00000378801:A228D;ENSP00000322850:A108D;ENSP00000354921:A181D	ENSP00000322850:A108D	A	-	2	0	ZWINT	57788432	0.023000	0.18921	0.029000	0.17559	0.013000	0.08279	2.383000	0.44354	1.085000	0.41206	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1	1	0	1	67	268	0	76	1	9.999957e-01	34	40	0	76	2		0	0	0	0	0	2	1	1	65	262	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZWINT	11130	broad.mit.edu	37	10	58118706	58118706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118706C>T	ENST00000373944.3	-	6	521	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZWINT_ENST00000318387.2_Silent_p.E41E|ZWINT_ENST00000361148.6_Silent_p.E161E|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein			20					GCAGATGCTTCTCCTGCCAGG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000373944.3	1	1	hg19	CCDS7249.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1	1	0	1	69	345	0	81	1	9.999970e-01	30	64	0	81	2		0	0	0	0	0	2	1	1	66	334	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO18	84893	broad.mit.edu	37	10	5945034	5945034	+	Missense_Mutation	SNP	C	C	T	rs146471049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5945034C>T	ENST00000362091.4	+	2	168	c.53C>T	c.(52-54)gCt>gTt	p.A18V	FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.A69V	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18			40					CAGCATTTGGCTCGGAGTCAC	0.473000																								0							SO:0001583	missense			ENST00000362091.4	1	1	hg19	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690765	0.48097	0.0	1.16E-4	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.42	5.42	0.78866	.	0.313315	0.32372	N	0.006184	T	0.50103	0.1596	L	0.53249	1.67	0.80722	D	1	P;B	0.38827	0.649;0.376	B;B	0.33454	0.164;0.079	T	0.56505	-0.7968	9	0.59425	D	0.04	-9.9585	12.1561	0.54077	0.0:0.9177:0.0:0.0823	.	69;18	Q8NFZ0-2;Q8NFZ0	.;FBX18_HUMAN	V	18;69	.	ENSP00000355415:A18V	A	+	2	0	FBXO18	5985040	0.064000	0.20934	0.997000	0.53966	0.328000	0.28507	1.720000	0.38022	2.536000	0.85505	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	1	0	1	48	209	0	58	1	9.997813e-01	13	45	0	58	2		0	0	0	0	0	2	1	1	44	205	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO18	84893	broad.mit.edu	37	10	5948357	5948357	+	Missense_Mutation	SNP	G	G	A	rs145958035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5948357G>A	ENST00000362091.4	+	3	630	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.R223Q	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18			40					AGTACGTCTCGGCTCTCTGCG	0.572000																								0							SO:0001583	missense			ENST00000362091.4	1	1	hg19	CCDS7072.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.039	-1.292831	0.01375	4.54E-4	0.0	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.52	-5.47	0.02600	.	1.774100	0.02188	N	0.061094	T	0.12433	0.0302	N	0.01576	-0.805	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32613	-0.9900	9	0.08179	T	0.78	1.2348	9.6318	0.39785	0.669:0.0:0.2333:0.0977	.	223;172;98	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Q	172;223	.	ENSP00000355415:R172Q	R	+	2	0	FBXO18	5988363	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.453000	0.06778	-1.020000	0.03354	-0.136000	0.14681	CGG		TCGA-IB-7651-01A-11D-2154-08	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	1	0	1	23	188	0	28	1	9.999896e-01	13	145	0	28	2		0	0	0	0	0	2	1	9.999993e-01	22	181	0	28	2								-20.000000	1	1	121412	10	40	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.850000	1.000000	1.000000	0.990466	0.990000	1	9.900000e-01	1
UBE2D1	7321	broad.mit.edu	37	10	60121147	60121147	+	Missense_Mutation	SNP	C	C	A	rs141191537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60121147C>A	ENST00000373910.4	+	2	301	c.74C>A	c.(73-75)cCt>cAt	p.P25H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1			10					TCAGCTGGACCTGTGGGAGAT	0.383000																								0							SO:0001583	missense			ENST00000373910.4	1	1	hg19	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904294	0.92035	.	.	ENSG00000072401	ENST00000373910	T	0.60171	0.21	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88960	0.3393	10	0.87932	D	0	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	25	P51668	UB2D1_HUMAN	H	25	ENSP00000363019:P25H	ENSP00000363019:P25H	P	+	2	0	UBE2D1	59791153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.735000	0.84939	2.885000	0.99019	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	1	0	1	74	375	0	95	1	9.999900e-01	27	59	0	95	2		0	0	0	0	0	2	1	1	73	367	0	95	2								-3.235849	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BICC1	80114	broad.mit.edu	37	10	60588555	60588555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60588555G>A	ENST00000373886.3	+	21	2833	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	p.S943S(1)		44					TTTTTGAATCGCCAAATGCAC	0.468000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000373886.3	1	1	hg19	CCDS31206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	1	0	0	16	314	0	53	0	8.920843e-01	0	79	0	53	2		0	0	0	0	0	2	1	9.999190e-01	13	306	0	53	2								-2.810881	1	1	121406	11	42	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.590000	0.350000	1.000000	0.570000	0.631039	0.590000	0	4.600000e-01	8.000000e-01
CCDC6	8030	broad.mit.edu	37	10	61554264	61554264	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61554264G>A	ENST00000263102.6	-	8	1428	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6		CCDC6/RET(4)	18					TGTGCTGCACGTGAAGACCCG	0.478000			T	RET	NSCLC										Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0							SO:0001819	synonymous_variant			ENST00000263102.6	1	1	hg19	CCDS7257.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	0	0	0	54	258	1	63	1	9.999681e-01	62	137	1	63	12		0	0	0	0	0	2	1	9.999992e-01	53	253	1	63	17								-3.279951	1	1	121412	10	40	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC6	8030	broad.mit.edu	37	10	61572421	61572421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61572421C>A	ENST00000263102.6	-	5	1050	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6		CCDC6/RET(4)	18					TCAGTTGCTTCTTCAGCCGTT	0.418000			T	RET	NSCLC										Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0							SO:0001583	missense			ENST00000263102.6	1	1	hg19	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762443	0.89932	.	.	ENSG00000108091	ENST00000263102	D	0.94758	-3.51	5.73	5.73	0.89815	.	0.084305	0.85682	D	0.000000	D	0.95968	0.8687	L	0.52573	1.65	0.80722	D	1	D	0.56287	0.975	P	0.59761	0.863	D	0.96012	0.9002	10	0.72032	D	0.01	-28.4454	19.8904	0.96928	0.0:1.0:0.0:0.0	.	273	Q16204	CCDC6_HUMAN	N	273	ENSP00000263102:K273N	ENSP00000263102:K273N	K	-	3	2	CCDC6	61242427	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.879000	0.63100	2.697000	0.92050	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	1	0	1	88	311	0	73	1	1	49	101	0	73	2		0	0	0	0	0	2	1	1	88	309	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK3	288	broad.mit.edu	37	10	61832967	61832967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61832967G>A	ENST00000280772.2	-	37	7863	c.7672C>T	c.(7672-7674)Cgc>Tgc	p.R2558C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					TCAGTAAAGCGCATCCACATG	0.408000																								0							SO:0001583	missense			ENST00000280772.2	1	1	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036538	0.54896	0.0	1.16E-4	ENSG00000151150	ENST00000280772	T	0.70164	-0.46	5.47	5.47	0.80525	.	0.258119	0.23413	N	0.048452	T	0.69860	0.3158	L	0.55481	1.735	0.80722	D	1	D	0.61697	0.99	P	0.46885	0.53	T	0.74309	-0.3707	10	0.72032	D	0.01	.	19.3349	0.94312	0.0:0.0:1.0:0.0	.	2558	Q12955	ANK3_HUMAN	C	2558	ENSP00000280772:R2558C	ENSP00000280772:R2558C	R	-	1	0	ANK3	61502973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.564000	0.86499	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1	123	580	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	121	565	0	111	2								-20.000000	1	1	121412	12	44	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK3	288	broad.mit.edu	37	10	61834648	61834648	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61834648G>A	ENST00000280772.2	-	37	6182	c.5991C>T	c.(5989-5991)atC>atT	p.I1997I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					TGGCTTCCCGGATTTCTTCCG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000280772.2	1	1	hg19	CCDS7258.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	0	0	15	388	1	86		0	0	0	1	86	2		0	0	0	0	0	2	0	4.771874e-01	14	382	1	86	16								-3.713719	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.460000	0.260000	1.000000	0.440000	0.506747	0.460000	0	3.500000e-01	6.200000e-01
ANK3	288	broad.mit.edu	37	10	61846505	61846505	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61846505T>C	ENST00000280772.2	-	30	3869	c.3678A>G	c.(3676-3678)tcA>tcG	p.S1226S	ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000373827.2_Silent_p.S1220S|ANK3_ENST00000503366.1_Silent_p.S1227S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					CACCTTCTCCTGAGGGCGGGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000280772.2	1	1	hg19	CCDS7258.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1	70	339	0	79	1	9.946363e-01	9	32	0	79	2		0	0	0	0	0	2	1	1	67	333	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK3	288	broad.mit.edu	37	10	61848050	61848050	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848050T>G	ENST00000280772.2	-	29	3586	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					TGCAAAATACTGGGGGAAATC	0.443000																								0							SO:0001583	missense			ENST00000280772.2	1	1	hg19	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048615|4.048615	0.75846|0.75846	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348|ENST00000467420	T;T;T;T|.	0.74842|.	-0.21;-0.88;-0.88;-0.88|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.40064|.	N|.	0.001198|.	T|T	0.79986|0.79986	0.4541|0.4541	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.76494|.	0.994;0.998;0.999;0.999;0.998;0.997;0.996|.	P;D;D;D;D;D;D|.	0.79784|.	0.885;0.99;0.993;0.979;0.986;0.947;0.979|.	T|T	0.81678|0.81678	-0.0824|-0.0824	10|5	0.87932|.	D|.	0|.	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1133;266;665;1126;1132;367;266|.	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;.;ANK3_HUMAN;.;.|.	P|R	1132;1126;266;266;1133;1112;367;767;767;265;665|190	ENSP00000280772:Q1132P;ENSP00000362933:Q1126P;ENSP00000347436:Q266P;ENSP00000425236:Q1133P|.	ENSP00000280772:Q1132P|.	Q|S	-|-	2|1	0|0	ANK3|ANK3	61518056|61518056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.676000|7.676000	0.84012|0.84012	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAG|AGT		TCGA-IB-7651-01A-11D-2154-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1	106	434	0	97	1	9.843752e-01	2	27	0	97	2		0	0	0	0	0	2	1	1	102	425	0	97	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK3	288	broad.mit.edu	37	10	61848065	61848065	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848065G>A	ENST00000280772.2	-	29	3571	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					GAAATCTTTCGTGATAATCCT	0.433000																								0							SO:0001583	missense			ENST00000280772.2	1	1	hg19	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.218208|5.218208	0.95104|0.95104	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000467420|ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.|T;T;T;T	.|0.74632	.|-0.5;-0.86;-0.86;-0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.43416	.|D	.|0.000572	.|D	.|0.89770	.|0.6811	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D	.|0.90263	.|0.4302	.|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1128;261;660;1121;1127;362;261	.|E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.|.;.;.;.;ANK3_HUMAN;.;.	X|M	185|1127;1121;261;261;1128;1107;362;762;762;260;660	.|ENSP00000280772:T1127M;ENSP00000362933:T1121M;ENSP00000347436:T261M;ENSP00000425236:T1128M	.|ENSP00000280772:T1127M	R|T	-|-	1|2	2|0	ANK3|ANK3	61518071|61518071	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	9.448000|9.448000	0.97600|0.97600	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|ACG		TCGA-IB-7651-01A-11D-2154-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1	87	392	0	92	0	9.461133e-01	1	23	0	92	2		0	0	0	0	0	2	1	1	84	390	0	92	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK3	288	broad.mit.edu	37	10	62023664	62023664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62023664C>T	ENST00000280772.2	-	6	819	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ANK3_ENST00000373827.2_Missense_Mutation_p.A204T|ANK3_ENST00000503366.1_Missense_Mutation_p.A193T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					TCTTTTCGGGCCGCGATATGA	0.542000																								0							SO:0001583	missense			ENST00000280772.2	1	1	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353870	0.95830	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.72725	0.23;0.23;2.04;-0.68	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.39274	N	0.001413	D	0.85418	0.5692	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.999	D	0.87025	0.2131	10	0.87932	D	0	.	18.879	0.92350	0.0:1.0:0.0:0.0	.	193;204;210	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	T	210;204;193;172;184	ENSP00000280772:A210T;ENSP00000362933:A204T;ENSP00000425236:A193T;ENSP00000426011:A184T	ENSP00000280772:A210T	A	-	1	0	ANK3	61693670	1.000000	0.71417	0.968000	0.41197	0.673000	0.39480	7.647000	0.83462	2.696000	0.92011	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1	66	225	0	52	1	9.983982e-01	13	23	0	52	2		0	0	0	0	0	2	1	1	63	222	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOBTB1	9886	broad.mit.edu	37	10	62648459	62648459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62648459G>A	ENST00000337910.5	-	6	1304	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1			23	Prostate(12;0.0112)				CTCAATATCCGCCCCTGGAAA	0.502000																								0							SO:0001583	missense			ENST00000337910.5	1	1	hg19	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	G	4.703	0.130805	0.08981	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.17528	2.27;2.27	5.91	2.84	0.33178	BTB/POZ-like (2);BTB/POZ fold (1);	0.903634	0.09537	N	0.788737	T	0.20251	0.0487	M	0.73962	2.25	0.09310	N	0.999995	B	0.16802	0.019	B	0.12837	0.008	T	0.29212	-1.0019	10	0.59425	D	0.04	.	4.6453	0.12568	0.1802:0.0:0.5467:0.2731	.	323	O94844	RHBT1_HUMAN	W	323	ENSP00000350595:R323W;ENSP00000338671:R323W	ENSP00000338671:R323W	R	-	1	2	RHOBTB1	62318465	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.103000	0.15292	0.859000	0.35456	-0.384000	0.06662	CGG		TCGA-IB-7651-01A-11D-2154-08	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1	1	0	0	43	496	0	75	1	9.660696e-01	2	63	0	75	2		0	0	0	0	0	2	1	1	42	481	0	74	2								-3.142702	1	1	121412	2	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.960000	0.700000	1.000000	1.000000	0.926375	0.960000	1	8.200000e-01	1
RHOBTB1	9886	broad.mit.edu	37	10	62670660	62670660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62670660C>T	ENST00000337910.5	-	4	618	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H|RNU2-72P_ENST00000411175.1_RNA	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1			23	Prostate(12;0.0112)				ATATGCAAAGCGTCTGTCTTT	0.443000																								0							SO:0001583	missense			ENST00000337910.5	1	1	hg19	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994195	0.93167	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.77229	-1.08;-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.87654	0.2530	10	0.72032	D	0.01	.	20.1082	0.97900	0.0:1.0:0.0:0.0	.	94	O94844	RHBT1_HUMAN	H	94	ENSP00000350595:R94H;ENSP00000338671:R94H	ENSP00000338671:R94H	R	-	2	0	RHOBTB1	62340666	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.964000	0.70379	2.764000	0.94973	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1	1	0	1	35	182	0	54	1	8.860002e-01	2	20	0	54	2		0	0	0	0	0	2	1	1	34	175	0	54	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
PFKFB3	5209	broad.mit.edu	37	10	6274895	6274895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6274895G>T	ENST00000379775.4	+	15	1883	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M	PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_3'UTR|PFKFB3_ENST00000379785.1_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3			22					GACTCCTCCAGGAAACACTGA	0.517000																								0							SO:0001583	missense			ENST00000379775.4	1	1	hg19	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.032|6.032	0.374222|0.374222	0.11409|0.11409	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000450232|ENST00000379789;ENST00000379784;ENST00000540253;ENST00000379775;ENST00000441697	.|.	.|.	.|.	4.95|4.95	3.07|3.07	0.35406|0.35406	.|.	.|.	.|.	.|.	.|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B;B	.|0.28512	.|0.214;0.07;0.025	.|B;B;B	.|0.28784	.|0.094;0.058;0.058	T|T	0.19289|0.19289	-1.0310|-1.0310	5|8	.|0.72032	.|D	.|0.01	.|.	6.9535|6.9535	0.24558|0.24558	0.2159:0.0:0.7841:0.0|0.2159:0.0:0.7841:0.0	.|.	.|532;518;498	.|B7Z955;Q16875;Q5VX15	.|.;F263_HUMAN;.	H|M	140|498;186;532;518;29	.|.	.|ENSP00000369100:R518M	Q|R	+|+	3|2	2|0	PFKFB3|PFKFB3	6314901|6314901	0.900000|0.900000	0.30661|0.30661	0.009000|0.009000	0.14445|0.14445	0.074000|0.074000	0.17049|0.17049	1.467000|1.467000	0.35321|0.35321	0.492000|0.492000	0.27815|0.27815	0.561000|0.561000	0.74099|0.74099	CAG|AGG		TCGA-IB-7651-01A-11D-2154-08	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1	0	0	0	25	714	0	170	1	9.653559e-01	12	146	0	170	2	0	0	0	1	0	0	2	1	9.999998e-01	25	709	0	170	2								-2.767608	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.400000	0.260000	1.000000	0.390000	0.445352	0.400000	0	3.300000e-01	5.100000e-01
C10orf107	219621	broad.mit.edu	37	10	63525708	63525708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63525708C>T	ENST00000330194.2	+	7	869	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107			8	Prostate(12;0.016)				CCGAGATAAACGAAAAACTGC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000330194.2	1	1	hg19	CCDS7262.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	1	0	1	29	166	0	48	0	2.882542e-01	0	7	0	48	2		0	0	0	0	0	2	1	1	29	160	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999909	0.990000	1	9.900000e-01	1
ARID5B	84159	broad.mit.edu	37	10	63852705	63852705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63852705C>T	ENST00000279873.7	+	10	3893	c.3483C>T	c.(3481-3483)agC>agT	p.S1161S	ARID5B_ENST00000309334.5_Silent_p.S918S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)			44	Prostate(12;0.016)|all_hematologic(501;0.215)				TGCATAACAGCATTTACCCTT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000279873.7	1	1	hg19	CCDS31208.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	1	0	0	124	531	0	123	1	9.988522e-01	6	39	0	123	2		0	0	0	0	0	2	1	1	124	525	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF365	22891	broad.mit.edu	37	10	64159483	64159483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64159483C>T	ENST00000395254.3	+	5	1439	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365			27	Prostate(12;0.0297)|all_hematologic(501;0.228)				GGGGTTTGGCCGCAAAGGCAA	0.542000																								0							SO:0001583	missense			ENST00000395254.3	1	1	hg19	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508291	0.85282	.	.	ENSG00000138311	ENST00000395254	T	0.63417	-0.04	5.82	5.82	0.92795	.	.	.	.	.	T	0.78033	0.4220	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78959	-0.1998	9	0.87932	D	0	.	17.8822	0.88843	0.0:1.0:0.0:0.0	.	387;402	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	C	387	ENSP00000378674:R387C	ENSP00000378674:R387C	R	+	1	0	ZNF365	63829489	0.968000	0.33430	0.996000	0.52242	0.905000	0.53344	0.835000	0.27531	2.745000	0.94114	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	1	0	0	71	299	0	89	0	5.418265e-01	0	9	0	89	2		0	0	0	0	0	2	1	1	70	292	0	89	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF365	22891	broad.mit.edu	37	10	64414614	64414614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64414614C>T	ENST00000395251.1	+	3	384	c.50C>T	c.(49-51)aCa>aTa	p.T17I	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365			27	Prostate(12;0.0297)|all_hematologic(501;0.228)				tgctggaatacagagaggaac	0.463000																								0							SO:0001583	missense			ENST00000395251.1	1	1	hg19	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542565	0.04053	.	.	ENSG00000138311	ENST00000395251	T	0.52983	0.64	1.95	-0.14	0.13456	.	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.19614	-1.0300	9	0.87932	D	0	.	3.9428	0.09334	0.0:0.5105:0.0:0.4895	.	17	Q70YC4	TALAN_HUMAN	I	17	ENSP00000378672:T17I	ENSP00000345300:T17I	T	+	2	0	ZNF365	64084620	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.960000	0.29253	-0.031000	0.13781	0.462000	0.41574	ACA		TCGA-IB-7651-01A-11D-2154-08	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	1	0	1	118	520	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	114	505	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGR2	1959	broad.mit.edu	37	10	64573594	64573594	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573594G>T	ENST00000242480.3	-	2	1129	c.804C>A	c.(802-804)atC>atA	p.I268I	EGR2_ENST00000411732.1_Silent_p.I218I|EGR2_ENST00000439032.1_Silent_p.I268I|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2			36	Prostate(12;0.0297)|all_hematologic(501;0.228)				TAAAGTTACGGATTGTAGAGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000242480.3	1	1	hg19	CCDS7267.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	1	0	1	54	292	0	58	0	9.999138e-01	0	77	0	58	2		0	0	0	0	0	2	1	1	54	283	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGR2	1959	broad.mit.edu	37	10	64573855	64573855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573855G>A	ENST00000242480.3	-	2	868	c.543C>T	c.(541-543)ctC>ctT	p.L181L	EGR2_ENST00000411732.1_Silent_p.L131L|EGR2_ENST00000439032.1_Silent_p.L181L|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2			36	Prostate(12;0.0297)|all_hematologic(501;0.228)				GGTCCTGGTAGAGGTCTCCTG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000242480.3	1	1	hg19	CCDS7267.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	1	0	1	116	437	0	98	0	1	0	154	0	98	2		0	0	0	0	0	2	1	1	112	429	0	96	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGR2	1959	broad.mit.edu	37	10	64573870	64573870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573870G>T	ENST00000242480.3	-	2	853	c.528C>A	c.(526-528)ggC>ggA	p.G176G	EGR2_ENST00000411732.1_Silent_p.G126G|EGR2_ENST00000439032.1_Silent_p.G176G|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2			36	Prostate(12;0.0297)|all_hematologic(501;0.228)				CTCCTGCACAGCCAGAATAAG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000242480.3	1	1	hg19	CCDS7267.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	1	0	1	113	425	0	91	0	1	0	165	0	91	2		0	0	0	0	0	2	1	1	109	415	0	91	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JMJD1C	221037	broad.mit.edu	37	10	64937606	64937606	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64937606C>A	ENST00000399262.2	-	23	7313	c.7095G>T	c.(7093-7095)aaG>aaT	p.K2365N	JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C			77	Prostate(12;0.0119)|all_hematologic(501;0.191)				CCTCAAATTTCTTGAGAATTC	0.383000																								0							SO:0001583	missense			ENST00000399262.2	1	1	hg19	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077728|4.077728	0.76528|0.76528	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	T;T;T|.	0.58940|.	0.64;0.3;0.64|.	6.05|6.05	5.15|5.15	0.70609|0.70609	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68393|0.68393	0.2996|0.2996	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;B|.	0.89917|.	1.0;1.0;0.367|.	D;D;B|.	0.91635|.	0.999;0.999;0.35|.	T|T	0.66842|0.66842	-0.5821|-0.5821	10|5	0.72032|.	D|.	0.01|.	-14.9126|-14.9126	14.7894|14.7894	0.69827|0.69827	0.0:0.9308:0.0:0.0692|0.0:0.9308:0.0:0.0692	.|.	2183;2365;2183|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	N|I	2365;2128;2183|912	ENSP00000382204:K2365N;ENSP00000384990:K2128N;ENSP00000444682:K2183N|.	ENSP00000382204:K2365N|.	K|R	-|-	3|2	2|0	JMJD1C|JMJD1C	64607612|64607612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.768000|1.768000	0.38511|0.38511	1.576000|1.576000	0.49790|0.49790	0.650000|0.650000	0.86243|0.86243	AAG|AGA		TCGA-IB-7651-01A-11D-2154-08	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	1	0	1	29	115	0	33	1	1	32	108	0	33	2		0	0	0	0	0	2	1	1	28	113	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
JMJD1C	221037	broad.mit.edu	37	10	64968149	64968149	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968149A>G	ENST00000399262.2	-	10	3498	c.3280T>C	c.(3280-3282)Ttc>Ctc	p.F1094L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C			77	Prostate(12;0.0119)|all_hematologic(501;0.191)				AATGTAGTGAAATAGTTACTT	0.373000																								0							SO:0001583	missense			ENST00000399262.2	1	1	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124391	0.77436	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.64085	0.27;-0.08;1.75;0.27	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.62723	1.935	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.58970	0.804;0.849;0.849	T	0.76987	-0.2755	10	0.72032	D	0.01	-8.319	15.7575	0.78046	1.0:0.0:0.0:0.0	.	635;1094;912	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	L	1094;875;875;912	ENSP00000382204:F1094L;ENSP00000384990:F875L;ENSP00000382195:F875L;ENSP00000444682:F912L	ENSP00000382195:F875L	F	-	1	0	JMJD1C	64638155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.118000	0.64928	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	1	0	1	207	791	0	191	1	9.999745e-01	10	49	0	191	2		0	0	0	0	0	2	1	1	203	778	0	191	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JMJD1C	221037	broad.mit.edu	37	10	64968369	64968369	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968369C>A	ENST00000399262.2	-	10	3278	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C			77	Prostate(12;0.0119)|all_hematologic(501;0.191)				GACGGTGTTCCTCTTTGTATT	0.408000																								0							SO:0001583	missense			ENST00000399262.2	1	1	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000484	0.54147	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.69435	-0.06;-0.4;1.38;-0.05	5.9	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.64997	1.995	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.73353	-0.4009	10	0.52906	T	0.07	-15.4301	9.7959	0.40735	0.0:0.6749:0.0:0.3251	.	561;1020;838	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	D	1020;801;801;838	ENSP00000382204:E1020D;ENSP00000384990:E801D;ENSP00000382195:E801D;ENSP00000444682:E838D	ENSP00000382195:E801D	E	-	3	2	JMJD1C	64638375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.424000	0.34848	0.228000	0.21019	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	0	0	1	156	716	1	151	1	9.922157e-01	11	35	1	151	3		0	0	0	0	0	2	1	1	156	701	1	151	19								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JMJD1C	221037	broad.mit.edu	37	10	64975428	64975428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64975428G>A	ENST00000399262.2	-	6	925	c.707C>T	c.(706-708)tCt>tTt	p.S236F	JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C			77	Prostate(12;0.0119)|all_hematologic(501;0.191)				TTGAACCATAGAAGGATCGAC	0.328000																								0							SO:0001583	missense			ENST00000399262.2	1	1	hg19	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793804	0.70452	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.28	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.12178	0.0296	N	0.14661	0.345	0.47245	D	0.999368	B;B	0.23990	0.095;0.067	B;B	0.21917	0.037;0.03	T	0.05937	-1.0855	10	0.46703	T	0.11	-4.9331	15.9854	0.80147	0.0:0.1349:0.8651:0.0	.	236;54	Q15652;A0T124	JHD2C_HUMAN;.	F	236;17;17;54	ENSP00000382204:S236F;ENSP00000384990:S17F;ENSP00000382195:S17F;ENSP00000444682:S54F	ENSP00000382195:S17F	S	-	2	0	JMJD1C	64645434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.218000	0.43458	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	1	0	1	30	126	0	24	1	9.918175e-01	8	27	0	24	2		0	0	0	0	0	2	1	1	30	126	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
JMJD1C	221037	broad.mit.edu	37	10	65225411	65225411	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:65225411C>T	ENST00000399262.2	-	1	230	c.12G>A	c.(10-12)gaG>gaA	p.E4E	JMJD1C_ENST00000399251.1_5'UTR|JMJD1C-AS1_ENST00000609436.1_RNA	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C			77	Prostate(12;0.0119)|all_hematologic(501;0.191)				CTGCCCGCGTCTCTACCGCCA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000399262.2	1	1	hg19	CCDS41532.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	1	0	0	26	171	0	41	0	1.921746e-01	1	5	0	41	2		0	0	0	0	0	2	1	9.999999e-01	26	167	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999204	0.990000	1	9.900000e-01	1
CTNNA3	29119	broad.mit.edu	37	10	67680191	67680191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:67680191T>C	ENST00000433211.2	-	18	2759	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3			95					CTCTGGCTTCTCTCTTTTAAT	0.468000																								0							SO:0001583	missense			ENST00000433211.2	1	1	hg19	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951743	0.92660	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.51325	1.3;1.3;0.71	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000019	T	0.66327	0.2778	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.68405	-0.5417	10	0.59425	D	0.04	-23.3476	14.3151	0.66443	0.0:0.0:0.0:1.0	.	862	Q9UI47	CTNA3_HUMAN	G	862;862;201	ENSP00000389714:E862G;ENSP00000362849:E862G;ENSP00000362840:E201G	ENSP00000362840:E201G	E	-	2	0	CTNNA3	67350197	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.266000	0.75297	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	1	0	1	127	505	0	118	0	4.101443e-02	0	2	0	118	2		0	0	0	0	0	2	1	1	123	492	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRTM3	347731	broad.mit.edu	37	10	68686696	68686696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686696C>T	ENST00000361320.4	+	2	600	c.22C>T	c.(22-24)Cta>Tta	p.L8L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3			41					TGTAATTAGGCTACTGAGCGG	0.403000																								0							SO:0001819	synonymous_variant			ENST00000361320.4	1	1	hg19	CCDS7270.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	1	0	0	46	161	0	35	0	1.280968e-01	0	3	0	35	2		0	0	0	0	0	2	1	1	44	161	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRTM3	347731	broad.mit.edu	37	10	68686880	68686880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686880G>A	ENST00000361320.4	+	2	784	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3			41					TTGTCCCTTCGCTATAACAGC	0.398000																								0							SO:0001583	missense			ENST00000361320.4	1	1	hg19	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621851	0.66787	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.58797	0.31	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	T	0.65270	0.2675	N	0.21240	0.645	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.978;1.0	T	0.64859	-0.6308	10	0.39692	T	0.17	.	18.2412	0.89968	0.0:0.0:1.0:0.0	.	69;69	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	69	ENSP00000355187:R69H	ENSP00000355187:R69H	R	+	2	0	LRRTM3	68356886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.613000	0.88420	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	1	0	1	94	368	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1	93	362	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRTM3	347731	broad.mit.edu	37	10	68687299	68687299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68687299G>A	ENST00000361320.4	+	2	1203	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3			41					CAGACTCAAAGAACTTCACCT	0.453000																								0							SO:0001583	missense			ENST00000361320.4	1	1	hg19	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798719	0.70567	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57907	0.37	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	T	0.67429	0.2892	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.65796	-0.6081	10	0.44086	T	0.13	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	209;209	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	209	ENSP00000355187:E209K	ENSP00000355187:E209K	E	+	1	0	LRRTM3	68357305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.538000	0.85594	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	1	0	1	87	512	0	114	0	4.415021e-01	0	10	0	114	2		0	0	0	0	0	2	1	1	86	505	0	112	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNA3	29119	broad.mit.edu	37	10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3			95					ACTTTCTTTGCGAACTTCCTC	0.423000																								0							SO:0001583	missense			ENST00000433211.2	1	1	hg19	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735826	0.69189	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.66	4.75	0.60458	.	0.381500	0.20044	N	0.100458	T	0.59742	0.2216	L	0.58510	1.815	0.42656	D	0.993463	D;P;P	0.61697	0.99;0.464;0.952	P;B;P	0.58077	0.832;0.22;0.603	T	0.63075	-0.6718	10	0.87932	D	0	-2.4162	13.8737	0.63638	0.0:0.9241:0.0:0.0759	.	95;95;95	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	H	95	ENSP00000389714:R95H;ENSP00000362849:R95H;ENSP00000441444:R95H;ENSP00000330570:R95H	ENSP00000330570:R95H	R	-	2	0	CTNNA3	69036629	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	1.816000	0.38992	2.671000	0.90904	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	1	0	1	70	372	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	65	365	0	66	2								-20.000000	1	1	121412	3	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIRT1	23411	broad.mit.edu	37	10	69651188	69651188	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69651188T>C	ENST00000212015.6	+	4	871	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000432464.1_5'UTR|SIRT1_ENST00000497639.1_3'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1			14					ATACCTGACTTCAGGTCAAGG	0.383000																								0							SO:0001583	missense			ENST00000212015.6	1	1	hg19	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804013	0.90623	.	.	ENSG00000096717	ENST00000212015	T	0.43294	0.95	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88521	0.3096	10	0.87932	D	0	-8.5998	14.4334	0.67266	0.0:0.0:0.0:1.0	.	273	Q96EB6	SIRT1_HUMAN	S	273	ENSP00000212015:F273S	ENSP00000212015:F273S	F	+	2	0	SIRT1	69321194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.493000	0.81493	2.064000	0.61679	0.455000	0.32223	TTC		TCGA-IB-7651-01A-11D-2154-08	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1	1	0	1	136	636	0	134	1	9.994479e-01	7	46	0	134	2		0	0	0	0	0	2	1	1	133	625	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYPN	84665	broad.mit.edu	37	10	69926239	69926239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69926239C>T	ENST00000358913.5	+	10	2277	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MYPN_ENST00000540630.1_Missense_Mutation_p.R597C|MYPN_ENST00000354393.2_Missense_Mutation_p.R322C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin			94					GATTGGGCTTCGTGTGCACTT	0.572000																								0							SO:0001583	missense			ENST00000358913.5	1	1	hg19	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386227	0.82902	4.54E-4	0.0	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59364	0.27;0.29;0.27	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66196	0.897;0.942;0.877	T	0.70528	-0.4847	9	.	.	.	.	13.8632	0.63573	0.1526:0.8474:0.0:0.0	.	597;322;597	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	322;322;597;597	ENSP00000346369:R322C;ENSP00000351790:R597C;ENSP00000441668:R597C	.	R	+	1	0	MYPN	69596245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.080000	0.57620	2.455000	0.83008	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	1	0	1	60	209	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	60	204	0	52	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYPN	84665	broad.mit.edu	37	10	69966658	69966658	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69966658A>G	ENST00000358913.5	+	19	4279	c.3791A>G	c.(3790-3792)tAc>tGc	p.Y1264C	MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C|MYPN_ENST00000354393.2_Missense_Mutation_p.Y989C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin			94					CTGGATATATACGGTAAGTGT	0.448000																								0							SO:0001583	missense			ENST00000358913.5	1	1	hg19	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328369	0.81690	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.74002	-0.8;-0.8;-0.8	5.65	5.65	0.86999	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83450	0.0048	9	.	.	.	.	15.8643	0.79052	1.0:0.0:0.0:0.0	.	1264;989;1264	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	989;989;1264;1264	ENSP00000346369:Y989C;ENSP00000351790:Y1264C;ENSP00000441668:Y1264C	.	Y	+	2	0	MYPN	69636664	1.000000	0.71417	0.990000	0.47175	0.815000	0.46073	9.339000	0.96797	2.152000	0.67230	0.402000	0.26972	TAC		TCGA-IB-7651-01A-11D-2154-08	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	0	0	0	71	236	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	70	234	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATOH7	220202	broad.mit.edu	37	10	69991175	69991175	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69991175C>A	ENST00000373673.3	-	1	696	c.260G>T	c.(259-261)aGc>aTc	p.S87I	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)								CATGATGTAGCTCAGGGCCAT	0.637000																								0							SO:0001583	missense			ENST00000373673.3	1	1	hg19	CCDS7276.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824458	0.90955	.	.	ENSG00000179774	ENST00000373673	D	0.97976	-4.64	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	L	0.38733	1.17	0.80722	D	1	P	0.39535	0.677	P	0.46479	0.518	D	0.95889	0.8905	9	.	.	.	-5.8489	17.9986	0.89192	0.0:1.0:0.0:0.0	.	87	Q8N100	ATOH7_HUMAN	I	87	ENSP00000362777:S87I	.	S	-	2	0	ATOH7	69661181	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.902000	0.63266	2.240000	0.73641	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048312.1	1	0	1	18	137	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.999858e-01	18	135	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.860000	1.000000	1.000000	0.991901	0.990000	1	9.900000e-01	1
HNRNPH3	3189	broad.mit.edu	37	10	70101600	70101600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70101600G>A	ENST00000265866.7	+	9	1121	c.956G>A	c.(955-957)gGt>gAt	p.G319D	HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)			11					GATGGTTTGGGTGGTTATGGT	0.363000																								0							SO:0001583	missense			ENST00000265866.7	1	1	hg19	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741177	0.49151	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.15487	2.78;2.42;2.58	5.66	5.66	0.87406	.	0.096984	0.64402	D	0.000001	T	0.39332	0.1074	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.02208	-1.1195	10	0.46703	T	0.11	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	211;304;319	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	D	319;211;304	ENSP00000265866:G319D;ENSP00000409869:G211D;ENSP00000346726:G304D	ENSP00000265866:G319D	G	+	2	0	HNRNPH3	69771606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.188000	0.89710	2.653000	0.90120	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1	1	0	1	74	363	0	59	1	1	72	295	0	59	2		0	0	0	0	0	2	1	1	70	354	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNA2	1763	broad.mit.edu	37	10	70182500	70182500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70182500C>A	ENST00000358410.3	-	15	2406	c.2356G>T	c.(2356-2358)Ggg>Tgg	p.G786W	DNA2_ENST00000399180.2_Missense_Mutation_p.G872W|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2			20					TGATGGTCCCCCACTAACACA	0.408000																								0							SO:0001583	missense			ENST00000358410.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.109622|4.109622	0.77096|0.77096	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000440722|ENST00000399180;ENST00000358410	.|D;D	.|0.99578	.|-6.21;-6.21	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.107348|0.107348	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.99816|0.99816	0.9919|0.9919	H|H	0.99211|0.99211	4.47|4.47	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96968|0.96968	0.9706|0.9706	6|10	.|0.87932	.|D	.|0	.|.	13.0117|13.0117	0.58735|0.58735	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|786	.|P51530	.|DNA2L_HUMAN	V|W	107|872;786	.|ENSP00000382133:G872W;ENSP00000351185:G786W	.|ENSP00000351185:G786W	G|G	-|-	2|1	0|0	DNA2|DNA2	69852506|69852506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	7.622000|7.622000	0.83099|0.83099	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GGG|GGG		TCGA-IB-7651-01A-11D-2154-08	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2	1	0	1	42	156	0	42	0	1.191366e-01	0	3	0	42	2		0	0	0	0	0	2	1	1	42	155	0	40	2								-3.649441	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNA2	1763	broad.mit.edu	37	10	70196900	70196900	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70196900C>T	ENST00000358410.3	-	10	1564	c.1514G>A	c.(1513-1515)gGt>gAt	p.G505D	DNA2_ENST00000399180.2_Missense_Mutation_p.G591D|DNA2_ENST00000399179.2_Missense_Mutation_p.G505D	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2			20					AGGTATGGCACCATGTTTACA	0.388000																								0							SO:0001583	missense			ENST00000358410.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.1	4.493986	0.84962	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.94046	-2.82;-3.34;-2.8	5.4	5.4	0.78164	.	0.174839	0.51477	D	0.000090	D	0.95981	0.8691	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.982;1.0	D	0.93763	0.7068	10	0.12103	T	0.63	.	19.1874	0.93649	0.0:1.0:0.0:0.0	.	505;505	F8VR31;P51530	.;DNA2L_HUMAN	D	505;591;505;505	ENSP00000382133:G591D;ENSP00000382132:G505D;ENSP00000351185:G505D	ENSP00000351185:G505D	G	-	2	0	DNA2	69866906	1.000000	0.71417	0.988000	0.46212	0.734000	0.41952	5.150000	0.64869	2.522000	0.85027	0.557000	0.71058	GGT		TCGA-IB-7651-01A-11D-2154-08	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2	0	0	0	12	622	0	139	0	8.695537e-03	0	7	0	139	2		0	0	0	0	0	2	1	9.990440e-01	12	614	0	137	2								-2.866970	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.230000	0.120000	1.000000	0.230000	0.302165	0.230000	0	1.700000e-01	3.400000e-01
SLC25A16	8034	broad.mit.edu	37	10	70248346	70248346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70248346C>T	ENST00000609923.1	-	7	749	c.651G>A	c.(649-651)ggG>ggA	p.G217G	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.G119G	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16			7					CATGGGAAAGCCCAACACTCT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000609923.1	1	1	hg19	CCDS7280.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2	1	0	1	34	164	0	37	1	9.972210e-01	16	31	0	37	2		0	0	0	0	0	2	1	1	34	158	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TET1	80312	broad.mit.edu	37	10	70332731	70332731	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70332731G>T	ENST00000373644.4	+	2	845	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1			21					CTGCAGCTGAGATCCTTCCTG	0.478000																								0							SO:0001583	missense			ENST00000373644.4	1	1	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491651	0.26774	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.53	2.11	0.27256	.	1.368980	0.04955	N	0.461030	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.41680	-0.9495	10	0.22706	T	0.39	.	2.4407	0.04493	0.177:0.2657:0.4217:0.1356	.	212	Q8NFU7	TET1_HUMAN	D	212	ENSP00000362748:E212D	ENSP00000362748:E212D	E	+	3	2	TET1	70002737	0.000000	0.05858	0.018000	0.16275	0.547000	0.35210	0.145000	0.16157	0.643000	0.30638	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1	64	258	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	64	255	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TET1	80312	broad.mit.edu	37	10	70333489	70333489	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70333489C>A	ENST00000373644.4	+	2	1603	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1			21					GTCCAGGGTGCTATACAGATT	0.438000																								0							SO:0001583	missense			ENST00000373644.4	1	1	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001149	0.54254	.	.	ENSG00000138336	ENST00000373644	T	0.09723	2.95	5.19	5.19	0.71726	.	0.477138	0.17509	N	0.171717	T	0.08626	0.0214	L	0.27053	0.805	0.34570	D	0.713337	B	0.32031	0.352	B	0.27170	0.077	T	0.14090	-1.0485	10	0.87932	D	0	.	11.5003	0.50433	0.1919:0.8081:0.0:0.0	.	465	Q8NFU7	TET1_HUMAN	D	465	ENSP00000362748:A465D	ENSP00000362748:A465D	A	+	2	0	TET1	70003495	0.946000	0.32159	0.926000	0.36857	0.973000	0.67179	1.306000	0.33505	2.421000	0.82119	0.305000	0.20034	GCT		TCGA-IB-7651-01A-11D-2154-08	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1	79	250	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	78	248	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TET1	80312	broad.mit.edu	37	10	70406025	70406025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70406025C>T	ENST00000373644.4	+	4	3748	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1			21					GAAAAGTTGTCCTATATGTAT	0.378000																								0							SO:0001583	missense			ENST00000373644.4	1	1	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325739	0.24080	.	.	ENSG00000138336	ENST00000373644	T	0.08634	3.07	5.12	5.12	0.69794	.	0.827937	0.10311	N	0.689957	T	0.14098	0.0341	N	0.19112	0.55	0.09310	N	1	P	0.52316	0.952	P	0.54460	0.753	T	0.34775	-0.9815	10	0.72032	D	0.01	.	15.7318	0.77810	0.0:1.0:0.0:0.0	.	1180	Q8NFU7	TET1_HUMAN	F	1180	ENSP00000362748:S1180F	ENSP00000362748:S1180F	S	+	2	0	TET1	70076031	0.790000	0.28787	0.039000	0.18376	0.008000	0.06430	4.544000	0.60691	2.394000	0.81467	0.563000	0.77884	TCC		TCGA-IB-7651-01A-11D-2154-08	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1	69	343	0	101	0	1.361400e-01	1	3	0	101	2		0	0	0	0	0	2	1	1	69	338	0	100	2								-3.341625	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TET1	80312	broad.mit.edu	37	10	70426935	70426935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70426935G>A	ENST00000373644.4	+	7	4804	c.4595G>A	c.(4594-4596)cGg>cAg	p.R1532Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1			21					ATGGCCGACCGGCTATACACA	0.488000																								0							SO:0001583	missense			ENST00000373644.4	1	1	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319987	0.23994	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	T	0.22743	1.94	5.21	-1.09	0.09904	TET cysteine-rich domain (1);	0.875458	0.09976	N	0.731632	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.24394	0.053	T	0.16630	-1.0396	10	0.48119	T	0.1	.	7.1581	0.25649	0.3526:0.1771:0.4703:0.0	.	1532	Q8NFU7	TET1_HUMAN	Q	1532;4	ENSP00000362748:R1532Q	ENSP00000362748:R1532Q	R	+	2	0	TET1	70096941	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.202000	0.17295	-0.004000	0.14419	0.585000	0.79938	CGG		TCGA-IB-7651-01A-11D-2154-08	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1	39	110	0	37	0	0	0	1	0	37	2		0	0	0	0	0	2	1	1	38	109	0	37	2								-20.000000	1	1	121412	2	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TET1	80312	broad.mit.edu	37	10	70450655	70450655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70450655C>T	ENST00000373644.4	+	12	5704	c.5495C>T	c.(5494-5496)tCg>tTg	p.S1832L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1			21					AAAACTTATTCGCTGATGCCA	0.478000																								0							SO:0001583	missense			ENST00000373644.4	1	1	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751989	0.69533	.	.	ENSG00000138336	ENST00000373644	T	0.09817	2.94	5.22	4.28	0.50868	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	4.198170	0.01460	U	0.015833	T	0.30541	0.0768	M	0.73217	2.22	0.30325	N	0.787173	D	0.71674	0.998	P	0.55161	0.77	T	0.03249	-1.1056	10	0.87932	D	0	.	10.711	0.45984	0.0:0.9064:0.0:0.0936	.	1832	Q8NFU7	TET1_HUMAN	L	1832	ENSP00000362748:S1832L	ENSP00000362748:S1832L	S	+	2	0	TET1	70120661	0.957000	0.32711	0.121000	0.21740	0.847000	0.48162	2.761000	0.47589	1.121000	0.41925	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	1	0	1	126	528	0	113	0	2.500089e-01	0	5	0	113	2		0	0	0	0	0	2	1	1	121	516	0	113	2								-3.494675	1	1	121412	2	34	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCAR1	55749	broad.mit.edu	37	10	70508917	70508917	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70508917G>A	ENST00000265872.6	+	9	970	c.851G>A	c.(850-852)cGt>cAt	p.R284H	CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H|CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1			56					CCTCCTGTTCGTATAGTTTCA	0.408000																								0							SO:0001583	missense			ENST00000265872.6	1	1	hg19	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612691	0.87258	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.29655	1.56;1.77;1.77;1.76;1.8;1.77	5.43	5.43	0.79202	.	0.052549	0.85682	D	0.000000	T	0.51261	0.1664	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.984;0.987;0.994	T	0.48768	-0.9006	10	0.56958	D	0.05	-9.1222	19.2324	0.93845	0.0:0.0:1.0:0.0	.	269;284;258	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	284;269;269;269;258;89	ENSP00000265872:R284H;ENSP00000441820:R269H;ENSP00000445254:R269H;ENSP00000439252:R269H;ENSP00000438610:R258H;ENSP00000439642:R89H	ENSP00000265872:R284H	R	+	2	0	CCAR1	70178923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.832000	0.92079	2.524000	0.85096	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	1	0	1	70	357	0	62	1	1	4	144	0	62	2		0	0	0	0	0	2	1	1	69	351	0	62	2								-3.332798	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCAR1	55749	broad.mit.edu	37	10	70515188	70515188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70515188C>T	ENST00000265872.6	+	13	1639	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L|CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1			56					TGGTCTCCTTCGTTGGATGGA	0.428000																								0							SO:0001583	missense			ENST00000265872.6	1	1	hg19	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217857	0.58560	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.72	5.72	0.89469	.	0.063959	0.64402	D	0.000004	T	0.74275	0.3695	M	0.84433	2.695	0.80722	D	1	P;P;D	0.89917	0.472;0.528;1.0	B;B;D	0.87578	0.141;0.221;0.998	T	0.77635	-0.2514	10	0.87932	D	0	-1.9755	19.8722	0.96854	0.0:1.0:0.0:0.0	.	492;507;481	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	L	507;492;492;492;481;312	ENSP00000265872:S507L;ENSP00000441820:S492L;ENSP00000445254:S492L;ENSP00000439252:S492L;ENSP00000438610:S481L;ENSP00000439642:S312L	ENSP00000265872:S507L	S	+	2	0	CCAR1	70185194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.700000	0.92200	0.585000	0.79938	TCG		TCGA-IB-7651-01A-11D-2154-08	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	1	0	1	102	421	0	104	1	1	62	56	0	104	2		0	0	0	0	0	2	1	1	101	417	0	104	2								-3.301110	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STOX1	219736	broad.mit.edu	37	10	70644062	70644062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644062G>A	ENST00000298596.6	+	3	593	c.510G>A	c.(508-510)acG>acA	p.T170T	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T|STOX1_ENST00000399169.4_Silent_p.T170T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1			28					CTCTGGGAACGCTGATTAAAG	0.333000																								0							SO:0001819	synonymous_variant			ENST00000298596.6	1	1	hg19	CCDS41535.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	1	0	0	39	516	0	81	0	2.857932e-02	1	3	0	81	2		0	0	0	0	0	2	1	1	40	506	0	79	2								-3.142702	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.840000	0.600000	1.000000	1.000000	0.849679	0.840000	0	7.100000e-01	1
STOX1	219736	broad.mit.edu	37	10	70644973	70644973	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644973A>C	ENST00000298596.6	+	3	1504	c.1421A>C	c.(1420-1422)aAa>aCa	p.K474T	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T|STOX1_ENST00000399169.4_Missense_Mutation_p.K474T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1			28					GTAGGTCAGAAACCACTTGGT	0.453000																								0							SO:0001583	missense			ENST00000298596.6	1	1	hg19	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	A	0.290	-0.980775	0.02197	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74315	-0.83;-0.83;-0.51	5.98	0.588	0.17445	.	0.489617	0.20416	N	0.092763	T	0.67097	0.2857	M	0.65975	2.015	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.55263	-0.8168	10	0.30854	T	0.27	.	9.4765	0.38875	0.3569:0.5702:0.0729:0.0	.	474	Q6ZVD7	STOX1_HUMAN	T	474;474;364	ENSP00000382121:K474T;ENSP00000298596:K474T;ENSP00000394509:K364T	ENSP00000298596:K474T	K	+	2	0	STOX1	70314979	0.001000	0.12720	0.131000	0.22000	0.015000	0.08874	1.282000	0.33226	0.132000	0.18615	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	1	0	1	80	331	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	80	326	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STOX1	219736	broad.mit.edu	37	10	70645435	70645435	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70645435T>C	ENST00000298596.6	+	3	1966	c.1883T>C	c.(1882-1884)tTt>tCt	p.F628S	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399169.4_Missense_Mutation_p.F628S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1			28					CATTCCCACTTTGACAAATTA	0.443000																								0							SO:0001583	missense			ENST00000298596.6	1	1	hg19	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	T	7.538	0.660004	0.14645	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.72615	-0.67;-0.67;-0.35	6.07	1.24	0.21308	.	0.694453	0.14722	N	0.302274	T	0.57388	0.2050	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.40534	-0.9558	10	0.25106	T	0.35	.	4.5658	0.12186	0.0:0.2893:0.169:0.5417	.	628	Q6ZVD7	STOX1_HUMAN	S	628;628;518	ENSP00000382121:F628S;ENSP00000298596:F628S;ENSP00000394509:F518S	ENSP00000298596:F628S	F	+	2	0	STOX1	70315441	0.000000	0.05858	0.440000	0.26846	0.966000	0.64601	-0.170000	0.09897	0.524000	0.28502	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	1	0	0	28	603	0	96	0	2.161007e-03	0	2	0	96	2		0	0	0	0	0	2	1	1	28	594	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.530000	0.360000	1.000000	0.520000	0.576813	0.530000	0	4.400000e-01	6.800000e-01
DDX50	79009	broad.mit.edu	37	10	70673194	70673194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673194C>T	ENST00000373585.3	+	6	912	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50			29					AACACCTGGTCGTATCAAAGA	0.388000																								0							SO:0001583	missense			ENST00000373585.3	1	1	hg19	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076777	0.76415	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20200	2.09	5.09	5.09	0.68999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.203799	0.53938	D	0.000052	T	0.60728	0.2291	H	0.97077	3.935	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	T	0.74368	-0.3688	10	0.87932	D	0	-7.362	14.4631	0.67465	0.0:0.853:0.147:0.0	.	269;269	Q9BQ39;B4DED6	DDX50_HUMAN;.	C	269	ENSP00000362687:R269C	ENSP00000362687:R269C	R	+	1	0	DDX50	70343200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.446000	0.60014	2.530000	0.85305	0.462000	0.41574	CGT		TCGA-IB-7651-01A-11D-2154-08	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	1	0	1	79	365	0	81	1	1	28	92	0	81	2		0	0	0	0	0	2	1	1	79	361	0	81	2								-3.282043	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX50	79009	broad.mit.edu	37	10	70673252	70673252	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673252T>C	ENST00000373585.3	+	6	970	c.863T>C	c.(862-864)gTg>gCg	p.V288A	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50			29					CGACATGTTGTGCTTGATGAA	0.378000																								0							SO:0001583	missense			ENST00000373585.3	1	1	hg19	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316314	0.81469	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.34072	1.38	5.33	5.33	0.75918	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.107917	0.64402	D	0.000006	T	0.66005	0.2746	M	0.90019	3.08	0.51233	D	0.999912	D;D	0.63880	0.993;0.987	D;D	0.71414	0.973;0.95	T	0.74109	-0.3771	10	0.87932	D	0	-7.0503	14.1577	0.65428	0.0:0.0:0.0:1.0	.	288;288	Q9BQ39;B4DED6	DDX50_HUMAN;.	A	288	ENSP00000362687:V288A	ENSP00000362687:V288A	V	+	2	0	DDX50	70343258	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.698000	0.84413	2.138000	0.66242	0.379000	0.24179	GTG		TCGA-IB-7651-01A-11D-2154-08	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	1	0	1	79	361	0	100	1	9.999999e-01	37	73	0	100	2		0	0	0	0	0	2	1	1	77	358	0	100	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX50	79009	broad.mit.edu	37	10	70679738	70679738	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70679738G>A	ENST00000373585.3	+	8	1346		c.e8+1		DDX50_ENST00000466265.1_Splice_Site	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50			29					CATAAAACAGGTAAGTCTTTT	0.373000																								0							SO:0001630	splice_region_variant			ENST00000373585.3	1	1	hg19	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	g	17.68	3.448704	0.63178	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1453	0.65347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX50	70349744	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.225000	0.95219	2.056000	0.61249	0.484000	0.47621	.		TCGA-IB-7651-01A-11D-2154-08	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	1	0	1	105	494	0	100	1	2.156545e-01	5	0	0	100	2		0	0	0	0	0	2	1	1	103	484	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS26A	9559	broad.mit.edu	37	10	70892692	70892692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70892692C>T	ENST00000373382.1	+	3	695	c.42C>T	c.(40-42)atC>atT	p.I14I	VPS26A_ENST00000395098.1_Silent_p.I14I|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_5'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)			8					TTTGTGAGATCGATATTGTTC	0.333000													Colon(90;545 1358 4729 6702 16773)											0							SO:0001819	synonymous_variant			ENST00000373382.1	1	1	hg19	CCDS7286.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	1	0	1	80	345	0	64	1	1	32	120	0	64	2		0	0	0	0	0	2	1	1	77	340	0	64	2								-3.465949	1	1	121410	3	34	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUPV3L1	6832	broad.mit.edu	37	10	70940063	70940063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70940063G>A	ENST00000359655.4	+	1	76	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)			30					CTTCTCCCGTGCCCTATTGTG	0.697000																								0							SO:0001583	missense			ENST00000359655.4	1	1	hg19	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991774	0.54041	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.37584	1.43;1.19	5.78	4.88	0.63580	.	0.224693	0.37136	N	0.002237	T	0.24314	0.0589	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.49607	T	0.09	0.8932	9.357	0.38173	0.0777:0.1447:0.7775:0.0	.	6	Q8IYB8	SUV3_HUMAN	T	6	ENSP00000352678:A6T;ENSP00000409072:A6T	ENSP00000352678:A6T	A	+	1	0	SUPV3L1	70610069	0.249000	0.23941	0.990000	0.47175	0.886000	0.51366	0.284000	0.18864	1.443000	0.47586	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	1	0	1	53	205	0	57	1	9.811483e-01	4	23	0	57	2		0	0	0	0	0	2	1	1	53	203	0	57	2								-20.000000	1	1	121348	2	36	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUPV3L1	6832	broad.mit.edu	37	10	70946204	70946204	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70946204C>A	ENST00000359655.4	+	3	415	c.355C>A	c.(355-357)Ctc>Atc	p.L119I	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)			30					TACAGCTCGTCTCTTCCACCA	0.363000																								0							SO:0001583	missense			ENST00000359655.4	1	1	hg19	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853047	0.91355	.	.	ENSG00000156502	ENST00000359655	T	0.18810	2.19	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	L	0.49513	1.565	0.80722	D	1	P	0.41475	0.751	P	0.50352	0.638	T	0.00824	-1.1551	10	0.52906	T	0.07	-13.5808	20.3151	0.98650	0.0:1.0:0.0:0.0	.	119	Q8IYB8	SUV3_HUMAN	I	119	ENSP00000352678:L119I	ENSP00000352678:L119I	L	+	1	0	SUPV3L1	70616210	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.591000	0.67536	2.809000	0.96659	0.467000	0.42956	CTC		TCGA-IB-7651-01A-11D-2154-08	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	1	0	1	75	351	0	75	1	9.962814e-01	9	33	0	75	2		0	0	0	0	0	2	1	1	74	344	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HKDC1	80201	broad.mit.edu	37	10	71008237	71008237	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71008237C>T	ENST00000354624.5	+	10	1456	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	HKDC1_ENST00000395086.2_Silent_p.R441R|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	p.V440fs*51(1)		34					GTGATGTCCGCTTCCTCCTGT	0.597000																								1	Deletion - Frameshift(1)						SO:0001819	synonymous_variant			ENST00000354624.5	0	1	hg19	CCDS7288.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	0	0	0	8	461	0	75	1	8.292343e-01	9	179	0	75	2		0	0	0	0	0	2	1	9.892115e-01	8	458	0	74	2								-7.328264	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.210000	0.090000	1.000000	0.200000	0.287212	0.210000	0	1.400000e-01	3.300000e-01
HK1	3098	broad.mit.edu	37	10	71119777	71119777	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71119777C>T	ENST00000359426.6	+	3	455	c.351C>T	c.(349-351)aaC>aaT	p.N117N	HK1_ENST00000448642.2_Silent_p.N152N|HK1_ENST00000360289.2_Silent_p.N105N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.N121N|HK1_ENST00000298649.3_Silent_p.N116N	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1			35					CCCCAGAGAACATCGTGCACG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000359426.6	1	1	hg19	CCDS7292.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	1	0	1	58	331	0	74	1	1	54	218	0	74	2		0	0	0	0	0	2	1	1	56	325	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HK1	3098	broad.mit.edu	37	10	71129326	71129326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71129326G>A	ENST00000359426.6	+	7	925	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	HK1_ENST00000448642.2_Missense_Mutation_p.R309Q|HK1_ENST00000360289.2_Missense_Mutation_p.R262Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q|HK1_ENST00000298649.3_Missense_Mutation_p.R273Q	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1			35					GAAGACATCCGGACAGAGTTT	0.493000																								0							SO:0001583	missense			ENST00000359426.6	1	1	hg19	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595268	0.66219	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.34	5.34	0.76211	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.70842	2.15	0.80722	D	1	D;D;D;D;P;P	0.89917	0.976;0.976;1.0;0.979;0.927;0.875	P;B;D;B;B;B	0.71870	0.501;0.397;0.975;0.273;0.245;0.098	D	0.97892	1.0298	10	0.49607	T	0.09	-0.0783	19.0383	0.92987	0.0:0.0:1.0:0.0	.	274;274;273;309;278;262	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	Q	262;309;278;273;273;274;274	ENSP00000353433:R262Q;ENSP00000402103:R309Q;ENSP00000384774:R278Q;ENSP00000415949:R273Q;ENSP00000298649:R273Q;ENSP00000352398:R274Q	ENSP00000298649:R273Q	R	+	2	0	HK1	70799332	1.000000	0.71417	0.979000	0.43373	0.152000	0.21847	7.863000	0.87023	2.499000	0.84300	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	1	0	1	57	213	0	58	1	1	61	246	0	58	2		0	0	0	0	0	2	1	1	56	206	0	58	2								-3.835657	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HK1	3098	broad.mit.edu	37	10	71142486	71142486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71142486G>A	ENST00000359426.6	+	10	1613	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	HK1_ENST00000448642.2_Silent_p.T538T|HK1_ENST00000360289.2_Silent_p.T491T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.T507T|HK1_ENST00000298649.3_Silent_p.T502T	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	p.T507T(1)|p.T502T(1)		35					GGAAGCAGACGCACAACAATG	0.617000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000359426.6	1	1	hg19	CCDS7292.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	1	0	1	33	129	0	23	1	1	116	325	0	23	2		0	0	0	0	0	2	1	1	32	126	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACR2	6865	broad.mit.edu	37	10	71164835	71164835	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71164835C>T	ENST00000373306.4	-	5	1487	c.944G>A	c.(943-945)cGc>cAc	p.R315H	TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2			11					GAATCCAGAGCGAAACCTGGG	0.622000																								0							SO:0001583	missense			ENST00000373306.4	1	1	hg19	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121827	0.94429	0.0	1.16E-4	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.58358	0.34;0.34	5.58	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.85630	2.765	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	T	0.78889	-0.2026	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.9295:0.0:0.0705	.	315	P21452	NK2R_HUMAN	H	103;315	ENSP00000362404:R103H;ENSP00000362403:R315H	ENSP00000362403:R315H	R	-	2	0	TACR2	70834841	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.929000	0.63455	2.625000	0.88918	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1	1	0	1	65	243	0	62	0	1.176067e-01	1	2	0	62	2		0	0	0	0	0	2	1	1	65	239	0	57	2								-3.750822	1	1	121412	8	39	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf35	219738	broad.mit.edu	37	10	71392750	71392750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71392750C>T	ENST00000373279.4	+	4	460	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35			5					GCTCATGATGCTTGGTGTTCG	0.592000																								0							SO:0001583	missense			ENST00000373279.4	1	1	hg19	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448740	0.43531	.	.	ENSG00000171224	ENST00000373279	.	.	.	5.33	5.33	0.75918	.	0.109712	0.40640	N	0.001041	T	0.54886	0.1886	L	0.37800	1.135	0.34725	D	0.729148	D	0.61697	0.99	P	0.60068	0.868	T	0.56565	-0.7958	9	0.13108	T	0.6	-22.5095	12.2872	0.54798	0.0:0.8293:0.1707:0.0	.	101	Q96D05	CJ035_HUMAN	F	101	.	ENSP00000362376:L101F	L	+	1	0	C10orf35	71062756	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	3.426000	0.52778	2.502000	0.84385	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	0	0	1	89	528	1	128	1	9.834721e-01	16	36	1	128	3		0	0	0	0	0	2	1	1	85	518	1	127	17								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
H2AFY2	55506	broad.mit.edu	37	10	71851615	71851615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71851615C>A	ENST00000373255.4	+	4	646	c.382C>A	c.(382-384)Ctc>Atc	p.L128I		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2			15					GGAAACGATCCTCTCCCCACC	0.577000																								0							SO:0001583	missense			ENST00000373255.4	1	1	hg19	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250032	0.22880	.	.	ENSG00000099284	ENST00000373255	T	0.21932	1.98	5.85	5.85	0.93711	.	0.171146	0.52532	D	0.000065	T	0.13841	0.0335	N	0.16743	0.435	0.46823	D	0.999214	B	0.14438	0.01	B	0.06405	0.002	T	0.09271	-1.0682	10	0.02654	T	1	-2.6828	20.1574	0.98116	0.0:1.0:0.0:0.0	.	128	Q9P0M6	H2AW_HUMAN	I	128	ENSP00000362352:L128I	ENSP00000362352:L128I	L	+	1	0	H2AFY2	71521621	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.616000	0.67709	2.941000	0.99782	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	1	0	1	37	275	0	76	1	9.998700e-01	15	87	0	76	2		0	0	0	0	0	2	1	1	36	262	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998956	0.990000	1	9.900000e-01	1
AIFM2	84883	broad.mit.edu	37	10	71874688	71874688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71874688C>T	ENST00000307864.1	-	8	1171	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2			16					GGCTTGTAGGCCTGGAGAGGC	0.567000																								0							SO:0001583	missense			ENST00000307864.1	1	1	hg19	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	3.098	-0.185301	0.06340	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.29917	1.55;1.55	5.8	0.082	0.14427	.	0.472269	0.24683	N	0.036442	T	0.06645	0.0170	N	0.00483	-1.445	0.22142	N	0.999334	B	0.02656	0.0	B	0.06405	0.002	T	0.30736	-0.9968	10	0.27082	T	0.32	-3.5514	3.46	0.07529	0.1884:0.3093:0.0:0.5023	.	320	Q9BRQ8	AIFM2_HUMAN	T	320;320;283	ENSP00000362345:A320T;ENSP00000312370:A320T	ENSP00000312370:A320T	A	-	1	0	AIFM2	71544694	0.324000	0.24652	0.992000	0.48379	0.247000	0.25773	-0.048000	0.11944	0.099000	0.17552	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	1	0	1	32	128	0	29	1	1	47	113	0	29	2		0	0	0	0	0	2	1	1	32	126	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AIFM2	84883	broad.mit.edu	37	10	71880912	71880912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71880912C>T	ENST00000307864.1	-	4	563	c.350G>A	c.(349-351)gGc>gAc	p.G117D	AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D|AIFM2_ENST00000482166.1_5'Flank	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2			16					ATTAAACTTGCCCGGGAAGGG	0.517000																								0							SO:0001583	missense			ENST00000307864.1	1	1	hg19	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209168	0.95069	.	.	ENSG00000042286	ENST00000373248;ENST00000307864	T;T	0.63417	-0.04;-0.04	6.17	6.17	0.99709	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.76328	2.33	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.79997	-0.1567	10	0.66056	D	0.02	-36.0769	20.4898	0.99202	0.0:1.0:0.0:0.0	.	117	Q9BRQ8	AIFM2_HUMAN	D	117	ENSP00000362345:G117D;ENSP00000312370:G117D	ENSP00000312370:G117D	G	-	2	0	AIFM2	71550918	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.639000	0.74314	2.941000	0.99782	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	1	0	1	67	316	0	70	1	9.999996e-01	28	75	0	70	2		0	0	0	0	0	2	1	1	66	306	0	70	2								-3.020441	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NODAL	4838	broad.mit.edu	37	10	72195385	72195385	+	Missense_Mutation	SNP	C	C	T	rs104894169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72195385C>T	ENST00000287139.3	-	2	547	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	AC022532.1_ENST00000420338.2_Missense_Mutation_p.P111L	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor			15					TGTGGGGGGCCGCGGCCAGCA	0.632000																								0		GRCh37	CM971053	NODAL	M	rs104894169	SO:0001583	missense			ENST00000287139.3	0	1	hg19	CCDS7304.1	4|4	0.0018315018315018315|0.0018315018315018315	2|2	0.0040650406504065045|0.0040650406504065045	1|1	0.0027624309392265192|0.0027624309392265192	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	7.533|7.533	0.659011|0.659011	0.14645|0.14645	6.81E-4|6.81E-4	0.0|0.0	ENSG00000197604|ENSG00000156574	ENST00000420338|ENST00000287139;ENST00000414871	.|D;D	.|0.84146	.|-1.8;-1.81	5.88|5.88	-8.31|-8.31	0.01001|0.01001	.|.	.|0.620051	.|0.16185	.|N	.|0.225677	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	A|A	9.3728e-12|9.3728e-12	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.50634|0.50634	-0.8805|-0.8805	5|8	0.87932|.	D|.	0|.	.|.	6.8381|6.8381	0.23947|0.23947	0.0877:0.1167:0.1728:0.6229|0.0877:0.1167:0.1728:0.6229	.|.	.|183	.|Q96S42	.|NODAL_HUMAN	L|Q	111|183;128	.|ENSP00000287139:R183Q;ENSP00000394468:R128Q	ENSP00000411125:P111L|.	P|R	+|-	2|2	0|0	AC022532.1|NODAL	71865391|71865391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	-1.428000|-1.428000	0.02439|0.02439	-2.063000|-2.063000	0.00890|0.00890	-0.137000|-0.137000	0.14449|0.14449	CCG|CGG		TCGA-IB-7651-01A-11D-2154-08	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	0	0	0	7	260	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	9.793765e-01	7	254	0	59	2								-3.670233	1	1	121406	14	43	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.340000	0.140000	1.000000	0.300000	0.399578	0.340000	0	2.200000e-01	5.200000e-01
SFMBT2	57713	broad.mit.edu	37	10	7230594	7230594	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7230594C>T	ENST00000361972.4	-	16	1890	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SFMBT2_ENST00000397167.1_Silent_p.L600L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2			99					ACTTGGCCTTCAGCGTCTCTT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000361972.4	1	1	hg19	CCDS31138.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	1	0	1	50	222	0	73	0	8.193300e-01	0	16	0	73	2		0	0	0	0	0	2	1	1	48	214	0	73	2								-3.455851	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRF1	5551	broad.mit.edu	37	10	72357840	72357840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72357840G>A	ENST00000441259.1	-	3	1797	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)			23					GTTTCCTGGAGGCTCCCCCAG	0.582000			M			various leukaemia, lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0		GRCh37	CD040316	PRF1	D		SO:0001583	missense	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	ENST00000441259.1	1	1	hg19	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.901039	0.33535	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91295	-2.82;-2.82	5.97	3.14	0.36123	.	0.273424	0.37012	N	0.002299	D	0.87099	0.6093	M	0.66378	2.025	0.40045	D	0.975705	B	0.16603	0.018	B	0.09377	0.004	T	0.79890	-0.1612	10	0.32370	T	0.25	-9.7627	8.3575	0.32340	0.2439:0.0:0.7561:0.0	.	546	P14222	PERF_HUMAN	L	546	ENSP00000362305:P546L;ENSP00000398568:P546L	ENSP00000316746:P546L	P	-	2	0	PRF1	72027846	0.691000	0.27709	0.695000	0.30226	0.527000	0.34593	1.124000	0.31320	0.426000	0.26116	-0.140000	0.14226	CCT		TCGA-IB-7651-01A-11D-2154-08	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	1	0	1	60	249	0	62	1	9.999946e-01	2	75	0	62	2		0	0	0	0	0	2	1	1	58	242	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFMBT2	57713	broad.mit.edu	37	10	7244459	7244459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7244459G>A	ENST00000361972.4	-	13	1560	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	SFMBT2_ENST00000397167.1_Silent_p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	p.V490V(1)		99					CTGGTTGCACGACTGCAATCT	0.398000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000361972.4	1	1	hg19	CCDS31138.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	1	0	1	66	312	0	70	0	7.303035e-01	0	14	0	70	2		0	0	0	0	0	2	1	1	66	307	0	69	2								-3.371847	1	1	121412	1	27	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS14	140766	broad.mit.edu	37	10	72496502	72496502	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72496502A>G	ENST00000373207.1	+	10	1552	c.1552A>G	c.(1552-1554)Acc>Gcc	p.T518A	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.T521A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14			50					CTTCTGCAAGACCAAGAAGGG	0.612000																								0							SO:0001583	missense			ENST00000373207.1	1	1	hg19	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440456	0.83993	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.71817	-0.6;-0.6	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.80746	2.51	0.50632	D	0.999885	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.976;0.996	D	0.86221	0.1631	10	0.87932	D	0	.	13.4353	0.61079	1.0:0.0:0.0:0.0	.	451;518;521	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	A	521;518	ENSP00000362304:T521A;ENSP00000362303:T518A	ENSP00000362303:T518A	T	+	1	0	ADAMTS14	72166508	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.087000	0.94110	1.993000	0.58246	0.383000	0.25322	ACC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	1	0	1	42	267	0	65	0	4.087598e-01	0	10	0	65	2		0	0	0	0	0	2	1	1	42	262	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999948	0.990000	1	9.900000e-01	1
ADAMTS14	140766	broad.mit.edu	37	10	72500759	72500759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72500759C>T	ENST00000373207.1	+	12	1765	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R592C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14			50					CTATGGAGGCCGCCTGTGCTT	0.627000																								0							SO:0001583	missense			ENST00000373207.1	1	1	hg19	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367801	0.82463	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.03860	3.78;3.78	5.27	5.27	0.74061	.	0.070614	0.56097	D	0.000035	T	0.26521	0.0648	M	0.90425	3.115	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.985;0.985	T	0.01848	-1.1261	10	0.87932	D	0	.	13.6385	0.62235	0.1547:0.8453:0.0:0.0	.	522;589;592	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	C	592;589	ENSP00000362304:R592C;ENSP00000362303:R589C	ENSP00000362303:R589C	R	+	1	0	ADAMTS14	72170765	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	4.316000	0.59178	2.735000	0.93741	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	1	0	1	45	199	0	58	0	3.865290e-01	0	7	0	58	2		0	0	0	0	0	2	1	1	42	196	0	57	2								-20.000000	1	1	121412	2	32	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1			4					TCGACGCTTGTCTGGGAGGCT	0.423000													Colon(151;1054 2458 6676 40971)											0							SO:0001819	synonymous_variant			ENST00000373202.3	1	1	hg19	CCDS31216.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	1	0	1	125	538	0	124	1	1	28	100	0	124	2		0	0	0	0	0	2	1	1	122	529	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFMBT2	57713	broad.mit.edu	37	10	7285598	7285598	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7285598G>T	ENST00000361972.4	-	9	1132	c.1042C>A	c.(1042-1044)Ctg>Atg	p.L348M	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2			99					GCATGGCACAGCATTGACAGT	0.408000																								0							SO:0001583	missense			ENST00000361972.4	1	1	hg19	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470197	0.43839	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.33216	1.42;1.42	5.54	2.55	0.30701	.	0.065062	0.64402	D	0.000007	T	0.50360	0.1611	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.42749	-0.9433	10	0.51188	T	0.08	.	7.4248	0.27092	0.1495:0.0:0.7159:0.1346	.	348	Q5VUG0	SMBT2_HUMAN	M	348	ENSP00000355109:L348M;ENSP00000380353:L348M	ENSP00000355109:L348M	L	-	1	2	SFMBT2	7325604	1.000000	0.71417	0.994000	0.49952	0.292000	0.27327	2.717000	0.47227	0.323000	0.23307	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	1	0	1	57	266	0	71	0	2.201582e-01	0	5	0	71	2		0	0	0	0	0	2	1	1	56	259	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5B	219699	broad.mit.edu	37	10	73051266	73051266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73051266G>A	ENST00000335350.6	+	10	1788	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)			49					ACCCGTGTATGCCCTGCAGGA	0.617000																								0							SO:0001583	missense			ENST00000335350.6	1	1	hg19	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	g	16.37	3.103661	0.56291	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.50548	0.8;0.74	4.47	4.47	0.54385	.	0.204155	0.42964	D	0.000622	T	0.59101	0.2169	M	0.72894	2.215	0.49483	D	0.999795	D;P	0.57257	0.979;0.908	P;B	0.54100	0.742;0.437	T	0.57745	-0.7758	10	0.18276	T	0.48	-29.7656	17.5121	0.87763	0.0:0.0:1.0:0.0	.	447;458	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	458;447	ENSP00000334329:A458T;ENSP00000362288:A447T	ENSP00000334329:A458T	A	+	1	0	UNC5B	72721272	1.000000	0.71417	0.928000	0.36995	0.452000	0.32318	4.325000	0.59234	2.190000	0.69967	0.651000	0.88453	GCC		TCGA-IB-7651-01A-11D-2154-08	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	1	0	1	98	373	0	122	1	1	14	165	0	122	2		0	0	0	0	0	2	1	1	97	366	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC29A3	55315	broad.mit.edu	37	10	73121880	73121880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73121880G>A	ENST00000373189.5	+	6	995	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3			15					TGTCACCTACGTCTTCTTCAT	0.577000													Esophageal Squamous(200;1319 2142 18949 31248 39672)											0							SO:0001583	missense			ENST00000373189.5	1	1	hg19	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	3.803	-0.041220	0.07452	.	.	ENSG00000198246	ENST00000373189	T	0.62788	-0.0	5.62	-3.16	0.05217	.	0.511061	0.19037	N	0.124400	T	0.44685	0.1305	L	0.52759	1.655	0.31699	N	0.640933	B	0.22146	0.065	B	0.23150	0.044	T	0.28554	-1.0040	9	0.21540	T	0.41	-24.0032	4.6273	0.12484	0.5022:0.161:0.2622:0.0746	.	315	Q9BZD2	S29A3_HUMAN	I	315	ENSP00000362285:V315I	ENSP00000362285:V315I	V	+	1	0	SLC29A3	72791886	0.025000	0.19082	0.012000	0.15200	0.042000	0.13812	0.286000	0.18902	-0.217000	0.10033	-0.140000	0.14226	GTC		TCGA-IB-7651-01A-11D-2154-08	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	1	0	1	235	909	0	212	1	9.992912e-01	3	40	0	212	2		0	0	0	0	0	2	1	1	232	885	0	211	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFMBT2	57713	broad.mit.edu	37	10	7326106	7326106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7326106G>A	ENST00000361972.4	-	6	622	c.532C>T	c.(532-534)Cga>Tga	p.R178*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	p.R178*(2)		99					CCTTTCCCTCGCAGAGGCTGT	0.368000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000361972.4	0	1	hg19	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353451	0.82243	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	4.45	4.45	0.53987	.	0.063541	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	17.4436	0.87572	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000355109:R178X	R	-	1	2	SFMBT2	7366112	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.897000	0.56273	2.195000	0.70347	0.431000	0.28591	CGA		TCGA-IB-7651-01A-11D-2154-08	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	1	0	1	51	412	0	86	0	1.392472e-01	0	6	0	86	2		0	0	0	0	0	2	1	1	51	406	0	86	2								-18.071280	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998600	0.990000	1	9.900000e-01	1
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73447448C>T	ENST00000224721.6	+	18	2051	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	CDH23_ENST00000299366.7_Silent_p.F722F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23			133					CCGCCTACTTCGTCTCCGTGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000224721.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1	33	149	0	58	0	3.077633e-01	0	6	0	58	2		0	0	0	0	0	2	1	1	31	145	0	56	2								-3.369206	1	1	121054	4	34	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CDH23	64072	broad.mit.edu	37	10	73462397	73462397	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73462397G>A	ENST00000224721.6	+	23	2699	c.2694G>A	c.(2692-2694)ctG>ctA	p.L898L	CDH23_ENST00000299366.7_Silent_p.L938L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23			133					TTCAGAACCTGCCTTTTGTGG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000224721.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1	136	583	0	124	0	1.661021e-01	0	4	0	124	2		0	0	0	0	0	2	1	1	136	569	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH23	64072	broad.mit.edu	37	10	73500672	73500672	+	Missense_Mutation	SNP	G	G	A	rs149752120	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73500672G>A	ENST00000224721.6	+	36	4602	c.4597G>A	c.(4597-4599)Gag>Aag	p.E1533K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23			133					TCCAGTCATCGAGAGCCCCTT	0.587000																								0							SO:0001583	missense			ENST00000224721.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.86	3.713318	0.68730	0.0	2.39E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.9	4.9	0.64082	Cadherin (1);Cadherin-like (1);	0.227974	0.36066	N	0.002816	T	0.45617	0.1351	L	0.48218	1.51	0.80722	D	1	B;P	0.39601	0.222;0.68	B;B	0.28139	0.053;0.086	T	0.47262	-0.9131	9	0.11182	T	0.66	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	348;1528	E7ERT0;Q9H251	.;CAD23_HUMAN	K	1533;1528;1531;348	.	ENSP00000224721:E1533K	E	+	1	0	CDH23	73170678	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.317000	0.65822	2.425000	0.82216	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1	95	389	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	94	378	0	98	2								-3.124768	1	1	120992	20	46	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf54	64115	broad.mit.edu	37	10	73521358	73521358	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521358T>C	ENST00000394957.3	-	2	566	c.508A>G	c.(508-510)Aca>Gca	p.T170A	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54			9					CCCTCACCTGTCTGCACCTGC	0.622000																								0							SO:0001583	missense			ENST00000394957.3	1	1	hg19	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268732	0.23136	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.42131	0.98	5.75	1.99	0.26369	Immunoglobulin-like fold (1);	0.612772	0.18840	N	0.129705	T	0.28928	0.0718	L	0.40543	1.245	0.25380	N	0.988629	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.18999	-1.0319	10	0.24483	T	0.36	.	6.8447	0.23982	0.0:0.1273:0.234:0.6387	.	166;170	Q2TA85;Q9H7M9	.;GI24_HUMAN	A	170;166	ENSP00000378409:T170A	ENSP00000263569:T166A	T	-	1	0	C10orf54	73191364	0.976000	0.34144	0.549000	0.28204	0.978000	0.69477	1.393000	0.34497	0.085000	0.17107	-0.250000	0.11733	ACA		TCGA-IB-7651-01A-11D-2154-08	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	1	0	1	15	64	0	17	1	1	34	321	0	17	2		0	0	0	0	0	2	1	9.999268e-01	16	63	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999729	0.990000	1	9.900000e-01	1
C10orf54	64115	broad.mit.edu	37	10	73521597	73521597	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521597C>T	ENST00000394957.3	-	2	327	c.269G>A	c.(268-270)cGc>cAc	p.R90H	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54			9					CGTGAGGTTGCGGATGGGCCG	0.657000																								0							SO:0001583	missense			ENST00000394957.3	1	1	hg19	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727148	0.89390	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.58358	0.34	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047659	0.85682	D	0.000000	T	0.70351	0.3214	M	0.71581	2.175	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.72500	-0.4274	10	0.72032	D	0.01	-15.4596	13.1811	0.59655	0.0:0.9272:0.0:0.0728	.	86;90	Q2TA85;Q9H7M9	.;GI24_HUMAN	H	90;86	ENSP00000378409:R90H	ENSP00000263569:R86H	R	-	2	0	C10orf54	73191603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.786000	0.55431	2.720000	0.93068	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	1	0	1	52	247	0	48	1	1	41	332	0	48	2		0	0	0	0	0	2	1	1	53	241	0	45	2								-3.082684	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH23	64072	broad.mit.edu	37	10	73569753	73569753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73569753C>T	ENST00000224721.6	+	60	8919	c.8914C>T	c.(8914-8916)Cgt>Tgt	p.R2972C	CDH23_ENST00000398788.3_Missense_Mutation_p.R727C|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23			133					GATCCCCGACCGTGTGCGCGG	0.602000																								0							SO:0001583	missense			ENST00000224721.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.89	2.670997	0.47781	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.57752	0.38	5.82	4.91	0.64330	Cadherin (1);	0.287586	0.27725	N	0.018109	T	0.37348	0.1000	L	0.36672	1.1	0.54753	D	0.999987	D;D	0.58620	0.983;0.978	B;B	0.39027	0.288;0.226	T	0.32851	-0.9891	10	0.62326	D	0.03	.	7.2417	0.26100	0.288:0.6299:0.0:0.0821	.	2967;2967	E9PEX1;Q9H251	.;CAD23_HUMAN	C	2972;2967;2970;727	ENSP00000381768:R727C	ENSP00000224721:R2972C	R	+	1	0	CDH23	73239759	0.993000	0.37304	0.995000	0.50966	0.693000	0.40251	1.256000	0.32921	2.759000	0.94783	0.549000	0.68633	CGT		TCGA-IB-7651-01A-11D-2154-08	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	1	0	1	96	422	0	126	0	3.508785e-02	0	2	0	126	2		0	0	0	0	0	2	1	1	96	417	0	121	2								-2.910759	1	1	121058	10	42	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH23	64072	broad.mit.edu	37	10	73571308	73571308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73571308C>T	ENST00000224721.6	+	63	9259	c.9254C>T	c.(9253-9255)gCc>gTc	p.A3085V	CDH23_ENST00000398788.3_Missense_Mutation_p.A840V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23			133					TTCCTGGCCGCCATGCTCTTT	0.657000																								0							SO:0001583	missense			ENST00000224721.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.29	2.788300	0.49997	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.58358	0.34	5.36	5.36	0.76844	.	0.072195	0.53938	D	0.000051	T	0.47173	0.1431	L	0.46157	1.445	0.52099	D	0.999943	B;B	0.14012	0.009;0.009	B;B	0.10450	0.005;0.005	T	0.37709	-0.9694	10	0.40728	T	0.16	.	14.3129	0.66429	0.0:0.9264:0.0:0.0735	.	3080;3080	E9PEX1;Q9H251	.;CAD23_HUMAN	V	3085;3080;3083;840	ENSP00000381768:A840V	ENSP00000224721:A3085V	A	+	2	0	CDH23	73241314	1.000000	0.71417	0.993000	0.49108	0.772000	0.43724	4.146000	0.58072	2.520000	0.84964	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	0	0	1	91	453	1	99	0	0	0	1	1	99	2		0	0	0	0	0	2	1	1	87	445	1	99	18								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSAP	5660	broad.mit.edu	37	10	73588645	73588645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588645G>A	ENST00000394936.3	-	5	712	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	PSAP_ENST00000394934.1_Missense_Mutation_p.P189S			P07602	SAP_HUMAN	prosaposin			13					TTTGGCTGGGGCTTGCTGCGG	0.582000																								0							SO:0001583	missense			ENST00000394936.3	1	1	hg19	CCDS7311.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.48	1.949636	0.34377	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.70631	-0.5;-0.5	4.53	3.59	0.41128	.	0.289616	0.37715	N	0.001962	T	0.54515	0.1863	L	0.28458	0.855	0.33022	D	0.52902	B	0.21688	0.059	B	0.19148	0.024	T	0.58020	-0.7710	10	0.26408	T	0.33	-0.0286	9.2139	0.37335	0.0:0.1371:0.6563:0.2067	.	189	P07602	SAP_HUMAN	S	189;189;189;189;192;114	ENSP00000378394:P189S;ENSP00000378392:P189S	ENSP00000350063:P189S	P	-	1	0	PSAP	73258651	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.516000	0.35856	1.198000	0.43158	0.313000	0.20887	CCC		TCGA-IB-7651-01A-11D-2154-08	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	1	0	1	47	225	0	51	1	1	1067	6312	0	51	2		0	0	0	0	0	2	1	1	46	223	0	50	2								-20.000000	1	1	121412	13	41	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSAP	5660	broad.mit.edu	37	10	73588821	73588821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588821T>G	ENST00000394936.3	-	5	536	c.389A>C	c.(388-390)gAg>gCg	p.E130A	PSAP_ENST00000394934.1_Missense_Mutation_p.E130A			P07602	SAP_HUMAN	prosaposin			13					AGAGCACACCTCCCCAGGACG	0.542000																								0							SO:0001583	missense			ENST00000394936.3	1	1	hg19	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710205	0.48517	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.74106	-0.81;-0.81	5.0	3.83	0.44106	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.051555	0.85682	D	0.000000	T	0.63721	0.2535	L	0.43152	1.355	0.35697	D	0.815282	P	0.46064	0.872	P	0.45167	0.472	T	0.63681	-0.6582	10	0.13470	T	0.59	-23.1839	5.6585	0.17656	0.2929:0.0:0.1327:0.5744	.	130	P07602	SAP_HUMAN	A	130;130;130;130;133;55	ENSP00000378394:E130A;ENSP00000378392:E130A	ENSP00000350063:E130A	E	-	2	0	PSAP	73258827	1.000000	0.71417	0.991000	0.47740	0.814000	0.46013	5.356000	0.66052	0.828000	0.34709	0.260000	0.18958	GAG		TCGA-IB-7651-01A-11D-2154-08	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	1	0	1	49	314	0	64	1	1	864	5524	0	64	2		0	0	0	0	0	2	1	1	49	308	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
CHST3	9469	broad.mit.edu	37	10	73767332	73767332	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73767332C>T	ENST00000373115.4	+	3	980	c.543C>T	c.(541-543)gcC>gcT	p.A181A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3			6					GCGCCAACGCCGCGGGCTCGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000373115.4	0	1	hg19	CCDS7312.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	1	0	0	13	136	0	23	0	6.448254e-01	0	24	0	23	2		0	0	0	0	0	2	1	9.994908e-01	12	131	0	23	2								-18.656250	1	1	121086	1	26	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.600000	1.000000	1.000000	0.930860	0.990000	1	8.000000e-01	1
ASCC1	51008	broad.mit.edu	37	10	73921319	73921319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73921319C>T	ENST00000342444.4	-	7	788	c.687G>A	c.(685-687)caG>caA	p.Q229Q	ASCC1_ENST00000394919.1_Silent_p.Q201Q|ASCC1_ENST00000317126.4_Silent_p.Q201Q|ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000317168.6_Silent_p.Q201Q	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1			7					CTTTACACTGCTGTAGCATCT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000342444.4	1	1	hg19	CCDS55713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.008|9.008	0.981892|0.981892	0.18812|0.18812	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000486689|ENST00000525286	.|.	.|.	.|.	5.6|5.6	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.59266|0.59266	0.2181|0.2181	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56559|0.56559	-0.7959|-0.7959	4|4	.|.	.|.	.|.	.|.	9.1805|9.1805	0.37138|0.37138	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	.|.	.|.	.|.	T|N	133|98	.|.	.|.	A|S	-|-	1|2	0|0	ASCC1|ASCC1	73591325|73591325	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.962000|0.962000	0.63368|0.63368	2.272000|2.272000	0.43373|0.43373	1.347000|1.347000	0.45714|0.45714	0.655000|0.655000	0.94253|0.94253	GCA|AGC		TCGA-IB-7651-01A-11D-2154-08	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	1	0	1	33	471	0	130	1	9.997341e-01	27	151	0	130	2		0	0	0	0	0	2	1	1	31	448	0	130	2								-7.711804	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.790000	0.550000	1.000000	1.000000	0.803070	0.790000	0	6.600000e-01	9.700000e-01
ASCC1	51008	broad.mit.edu	37	10	73973061	73973061	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73973061C>T	ENST00000342444.4	-	0	97				ASCC1_ENST00000394919.1_De_novo_Start_OutOfFrame|ASCC1_ENST00000317126.4_De_novo_Start_OutOfFrame|ASCC1_ENST00000545550.1_Missense_Mutation_p.S21N|ASCC1_ENST00000394915.3_De_novo_Start_OutOfFrame|ASCC1_ENST00000492502.2_5'UTR|ANAPC16_ENST00000299381.4_5'Flank|ASCC1_ENST00000317168.6_De_novo_Start_OutOfFrame	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1			7					TTCCATGACACTTTCTCCAAA	0.368000																								0											ENST00000342444.4	1	0	hg19	CCDS55713.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228190	0.58777	.	.	ENSG00000138303	ENST00000545550	T	0.32988	1.43	4.86	0.583	0.17417	.	.	.	.	.	T	0.17450	0.0419	.	.	.	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.22765	-1.0207	8	0.42905	T	0.14	.	2.74	0.05251	0.1488:0.5432:0.1443:0.1637	.	21	F5H874	.	N	21	ENSP00000442121:S21N	ENSP00000442121:S21N	S	-	2	0	ASCC1	73643067	0.000000	0.05858	0.010000	0.14722	0.854000	0.48673	-0.140000	0.10342	0.136000	0.18733	0.563000	0.77884	AGT		TCGA-IB-7651-01A-11D-2154-08	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	0	0	1	57	188	0	54	1	1	41	75	0	54	2		0	0	0	0	0	2	1	1	57	185	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDIT4	54541	broad.mit.edu	37	10	74034579	74034579	+	Missense_Mutation	SNP	C	C	T	rs143474945	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74034579C>T	ENST00000307365.3	+	3	533	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4			12					CGGCTGGGCTCTCGACGCCCT	0.657000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000307365.3	1	1	hg19	CCDS7315.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.53	2.862093	0.51482	0.002043	0.0	ENSG00000168209	ENST00000307365	T	0.47528	0.84	4.96	4.01	0.46588	.	0.296750	0.31884	N	0.006908	T	0.44644	0.1303	L	0.34521	1.04	0.40091	D	0.976251	P	0.42409	0.779	P	0.45946	0.498	T	0.52719	-0.8538	10	0.72032	D	0.01	-11.6794	14.2728	0.66162	0.0:0.8507:0.1493:0.0	.	111	Q9NX09	DDIT4_HUMAN	F	111	ENSP00000307305:S111F	ENSP00000307305:S111F	S	+	2	0	DDIT4	73704585	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	2.756000	0.47549	2.289000	0.77006	0.462000	0.41574	TCT		TCGA-IB-7651-01A-11D-2154-08	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	0	0	1	155	681	1	168	1	1	79	384	1	168	11		0	0	0	0	0	2	1	1	155	674	1	165	18								-3.153828	1	1	121400	23	47	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OIT3	170392	broad.mit.edu	37	10	74671483	74671483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74671483G>T	ENST00000334011.5	+	5	894	c.676G>T	c.(676-678)Gga>Tga	p.G226*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3			35	Prostate(51;0.0198)				AGACGTTGAAGGATGCCACAA	0.473000													Colon(7;19 345 13446 17537)											0							SO:0001587	stop_gained			ENST00000334011.5	0	1	hg19	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	38	7.028173	0.98013	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	.	.	.	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.5693	20.2375	0.98362	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000333900:G226X	G	+	1	0	OIT3	74341489	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.019000	0.76412	2.790000	0.95986	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	1	0	1	113	513	0	154		0	0	0	0	154	2	0	0	0	1	0	0	2	1	1	111	501	0	152	2								-3.020412	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P4HA1	5033	broad.mit.edu	37	10	74806855	74806855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74806855G>A	ENST00000307116.2	-	8	1021	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000412021.2_Missense_Mutation_p.P302L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I			15	Prostate(51;0.0198)			Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTCTCCGAGGGGTCTAAAC	0.353000													Colon(147;367 2405 2662 52127)											0							SO:0001583	missense			ENST00000307116.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.4	4.137993	0.77775	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.49139	0.81;0.82;0.81;0.81;0.82;0.79	5.94	5.94	0.96194	.	0.097977	0.64402	D	0.000001	T	0.58163	0.2103	M	0.81341	2.54	0.80722	D	1	B;P;P	0.40660	0.002;0.726;0.726	B;B;B	0.40864	0.014;0.342;0.236	T	0.63093	-0.6714	10	0.59425	D	0.04	-13.1687	20.369	0.98888	0.0:0.0:1.0:0.0	.	302;302;302	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	L	302	ENSP00000307318:P302L;ENSP00000362099:P302L;ENSP00000411688:P302L;ENSP00000378353:P302L;ENSP00000263556:P302L;ENSP00000414464:P302L	ENSP00000263556:P302L	P	-	2	0	P4HA1	74476861	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.607000	0.82883	2.819000	0.97034	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	1	0	1	53	240	0	40	1	1	133	382	0	40	2		0	0	0	0	0	2	1	1	51	234	0	38	2								-3.075402	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJC9	23234	broad.mit.edu	37	10	75006444	75006444	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75006444A>G	ENST00000372950.4	-	2	1994		c.e2+1		DNAJC9-AS1_ENST00000440197.2_RNA|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000479005.1_5'Flank	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9			6	Prostate(51;0.0119)				AGAGTCCTTTACCTTTTTAAA	0.448000																								0							SO:0001630	splice_region_variant			ENST00000372950.4	1	1	hg19	CCDS7322.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365007	0.61513	.	.	ENSG00000213551	ENST00000372950	.	.	.	5.19	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5337	0.44992	0.8373:0.1627:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC9	74676450	1.000000	0.71417	0.776000	0.31678	0.748000	0.42578	9.278000	0.95766	0.877000	0.35895	0.482000	0.46254	.		TCGA-IB-7651-01A-11D-2154-08	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	1	0	1	86	337	0	56	1	5.089540e-01	6	1	0	56	2		0	0	0	0	0	2	1	1	84	333	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC18	0	broad.mit.edu	37	10	75101334	75101334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75101334G>A	ENST00000310715.3	-	7	735	c.615C>T	c.(613-615)gaC>gaT	p.D205D	TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.D205D|TTC18_ENST00000340329.3_Silent_p.D205D	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN				34	Prostate(51;0.0119)				AAATGGGATAGTCCTTCTACA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000310715.3	1	1	hg19	CCDS7324.3																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	49	235	0	68	0	0	0	1	0	68	2		0	0	0	0	0	2	1	1	49	231	0	68	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC18	0	broad.mit.edu	37	10	75107993	75107993	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75107993C>A	ENST00000310715.3	-	5	470	c.350G>T	c.(349-351)gGa>gTa	p.G117V	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Splice_Site_p.G117V|TTC18_ENST00000493787.1_Intron|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000401621.2_Splice_Site_p.G117V|TTC18_ENST00000340329.3_Splice_Site_p.G117V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN				34	Prostate(51;0.0119)				TGAACTCTGTCCTGCAAAAAG	0.443000																								0							SO:0001630	splice_region_variant			ENST00000310715.3	1	0	hg19	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130417	0.77549	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65483	-0.6157	10	0.87932	D	0	.	16.521	0.84317	0.0:1.0:0.0:0.0	.	117	Q5T0N1	TTC18_HUMAN	V	117	ENSP00000310829:G117V;ENSP00000384479:G117V;ENSP00000343650:G117V;ENSP00000378334:G117V	ENSP00000310829:G117V	G	-	2	0	TTC18	74777999	1.000000	0.71417	0.908000	0.35775	0.956000	0.61745	4.991000	0.63883	2.479000	0.83701	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	57	257	0	60	0	8.959269e-02	0	3	0	60	2		0	0	0	0	0	2	1	1	57	252	0	59	2								-3.184179	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP54	159195	broad.mit.edu	37	10	75277367	75277367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75277367C>T	ENST00000339859.4	-	19	2917	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_Silent_p.E27E|USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Silent_p.E939E|USP54_ENST00000428547.1_Silent_p.E789E|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54			30	Prostate(51;0.0112)				GGGCAGATGACTCTGGAGATA	0.517000													Colon(195;880 2046 8854 25025 38456)											0							SO:0001819	synonymous_variant			ENST00000339859.4	1	1	hg19	CCDS7329.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	1	0	1	48	176	0	60	1	9.993639e-01	7	37	0	60	2		0	0	0	0	0	2	1	1	47	173	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNPO2L	79933	broad.mit.edu	37	10	75408231	75408231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75408231C>A	ENST00000394810.2	-	4	1328	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like			26	Prostate(51;0.0112)				GCTGGCGCTGCTGTTCAAAGA	0.667000																								0							SO:0001583	missense			ENST00000394810.2	1	1	hg19	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648146	0.47258	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.28069	1.63;2.71;2.71	4.7	4.7	0.59300	.	0.423282	0.23752	N	0.044914	T	0.36358	0.0964	L	0.52573	1.65	0.51012	D	0.999909	B;P	0.40638	0.412;0.725	B;P	0.46940	0.172;0.532	T	0.15464	-1.0436	10	0.66056	D	0.02	-5.8585	11.3228	0.49433	0.0:0.9164:0.0:0.0836	.	393;169	Q9H987;Q9H987-2	SYP2L_HUMAN;.	H	169;393;393	ENSP00000361964:Q169H;ENSP00000361963:Q393H;ENSP00000378289:Q393H	ENSP00000361963:Q393H	Q	-	3	2	SYNPO2L	75078237	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.166000	0.31834	2.456000	0.83038	0.491000	0.48974	CAG		TCGA-IB-7651-01A-11D-2154-08	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	1	0	1	100	425	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	98	421	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC24C	9632	broad.mit.edu	37	10	75510920	75510920	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75510920C>A	ENST00000339365.2	+	4	389	c.227C>A	c.(226-228)gCt>gAt	p.A76D	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C			32	Prostate(51;0.0112)				ACAGCACAGGCTCCTTGTGGC	0.517000																								0							SO:0001583	missense			ENST00000339365.2	1	1	hg19	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990813	0.35131	.	.	ENSG00000176986	ENST00000345254;ENST00000339365	T;T	0.78246	-1.16;-1.16	5.58	1.53	0.23141	.	0.912535	0.09395	N	0.808044	T	0.54515	0.1863	N	0.08118	0	0.09310	N	0.999997	B	0.23735	0.09	B	0.23419	0.046	T	0.43540	-0.9385	10	0.35671	T	0.21	-0.3216	2.8206	0.05470	0.1174:0.4822:0.1251:0.2752	.	76	P53992	SC24C_HUMAN	D	76	ENSP00000321845:A76D;ENSP00000343405:A76D	ENSP00000343405:A76D	A	+	2	0	SEC24C	75180926	0.844000	0.29557	0.963000	0.40424	0.984000	0.73092	0.228000	0.17814	0.363000	0.24346	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	0	0	1	42	210	0	69	1	9.999995e-01	33	82	0	69	2		0	0	0	0	0	2	1	1	41	208	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SEC24C	9632	broad.mit.edu	37	10	75520113	75520113	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520113G>A	ENST00000339365.2	+	6	981	c.819G>A	c.(817-819)ccG>ccA	p.P273P	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.P273P|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.P131P|SEC24C_ENST00000546025.1_Silent_p.P131P	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C			32	Prostate(51;0.0112)				TGCACTCCCCGCAGCAGCCAG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000339365.2	1	1	hg19	CCDS7332.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	0	0	1	84	427	0	105	1	1	46	135	0	105	2		0	0	0	0	0	2	1	1	82	422	0	103	2								-3.328475	1	1	121396	1	32	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC24C	9632	broad.mit.edu	37	10	75520479	75520479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520479G>A	ENST00000339365.2	+	7	1021	c.859G>A	c.(859-861)Gga>Aga	p.G287R	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R|SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C			32	Prostate(51;0.0112)				AGGTTCCTTCGGACCAGCCCG	0.537000																								0							SO:0001583	missense			ENST00000339365.2	1	1	hg19	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989466	0.93106	2.27E-4	0.0	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.25250	1.81;1.81;1.81	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	P;D;P	0.78314	0.691;0.991;0.86	T	0.50583	-0.8811	10	0.42905	T	0.14	-6.0416	20.0736	0.97735	0.0:0.0:1.0:0.0	.	145;287;287	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	R	145;287;287;145	ENSP00000321845:G287R;ENSP00000343405:G287R;ENSP00000402913:G145R	ENSP00000343405:G287R	G	+	1	0	SEC24C	75190485	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.542000	0.98086	2.748000	0.94277	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1	93	368	0	115	1	1	33	92	0	115	2		0	0	0	0	0	2	1	1	91	364	0	114	2								-3.068781	1	1	121410	5	39	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC24C	9632	broad.mit.edu	37	10	75526270	75526270	+	Silent	SNP	C	C	T	rs149206620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75526270C>T	ENST00000339365.2	+	13	1932	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.N590N|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.N471N|SEC24C_ENST00000546025.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C			32	Prostate(51;0.0112)				TCCTGGTCAACGTCAATGAGT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000339365.2	1	1	hg19	CCDS7332.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1	38	170	0	54	1	1	55	154	0	54	2		0	0	0	0	0	2	1	9.999055e-01	38	169	1	54	14								-20.000000	1	1	121412	3	36	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC24C	9632	broad.mit.edu	37	10	75528646	75528646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528646C>T	ENST00000339365.2	+	17	2422	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C			32	Prostate(51;0.0112)				TGCTGTGATGCGGGTCCGGAC	0.567000																								0							SO:0001583	missense			ENST00000339365.2	1	1	hg19	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901965	0.72754	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.72	0.42706	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.90145	3.09	0.80722	D	1	D;D;D	0.67145	0.991;0.994;0.996	P;P;P	0.59115	0.593;0.769;0.852	T	0.70741	-0.4789	10	0.87932	D	0	-8.8039	12.4733	0.55799	0.5246:0.4754:0.0:0.0	.	635;754;754	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	W	2;754;2;754;635	ENSP00000446174:R2W;ENSP00000321845:R754W;ENSP00000445023:R2W;ENSP00000343405:R754W;ENSP00000402913:R635W	ENSP00000343405:R754W	R	+	1	2	SEC24C	75198652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.691000	0.54720	1.382000	0.46385	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1	22	230	0	40	1	9.999994e-01	36	225	0	40	2		0	0	0	0	0	2	1	9.999988e-01	22	226	0	40	2								-2.774726	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.680000	1.000000	1.000000	0.947296	0.990000	1	8.500000e-01	1
SEC24C	9632	broad.mit.edu	37	10	75528855	75528855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528855C>A	ENST00000339365.2	+	18	2531	c.2369C>A	c.(2368-2370)aCt>aAt	p.T790N	SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N|SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N|SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C			32	Prostate(51;0.0112)				AAAACAGTGACTGTGGAGTTC	0.557000																								0							SO:0001583	missense			ENST00000339365.2	1	1	hg19	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631187	0.87660	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.72	5.72	0.89469	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.79475	2.455	0.80722	D	1	P;P;P	0.46512	0.77;0.853;0.879	B;B;P	0.51701	0.258;0.444;0.677	D	0.84817	0.0794	10	0.66056	D	0.02	-13.5358	19.8791	0.96888	0.0:1.0:0.0:0.0	.	671;790;790	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	N	38;790;38;790;671	ENSP00000446174:T38N;ENSP00000321845:T790N;ENSP00000445023:T38N;ENSP00000343405:T790N;ENSP00000402913:T671N	ENSP00000343405:T790N	T	+	2	0	SEC24C	75198861	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.706000	0.92434	0.467000	0.42956	ACT		TCGA-IB-7651-01A-11D-2154-08	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1	35	164	0	36	1	1	100	214	0	36	2		0	0	0	0	0	2	1	1	35	160	0	36	2								-19.865120	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SEC24C	9632	broad.mit.edu	37	10	75529125	75529125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75529125C>A	ENST00000339365.2	+	19	2607	c.2445C>A	c.(2443-2445)agC>agA	p.S815R	FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R|SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R|SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R|SEC24C_ENST00000496827.1_3'UTR|FUT11_ENST00000394790.1_5'Flank	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C			32	Prostate(51;0.0112)				TTTACACCAGCTGTGCAGGGC	0.537000																								0							SO:0001583	missense			ENST00000339365.2	1	1	hg19	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807703	0.70797	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.57	1.64	0.23874	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.80847	2.515	0.80722	D	1	P;D	0.62365	0.951;0.991	P;P	0.58928	0.529;0.848	T	0.47661	-0.9100	10	0.59425	D	0.04	-7.4455	10.4308	0.44407	0.0:0.6285:0.0:0.3715	.	696;815	E7EP00;P53992	.;SC24C_HUMAN	R	63;815;63;815;696	ENSP00000446174:S63R;ENSP00000321845:S815R;ENSP00000445023:S63R;ENSP00000343405:S815R;ENSP00000402913:S696R	ENSP00000343405:S815R	S	+	3	2	SEC24C	75199131	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.774000	0.26675	0.723000	0.32274	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1	1	0	1	30	124	0	32	1	1	43	122	0	32	2		0	0	0	0	0	2	1	1	29	124	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FUT11	170384	broad.mit.edu	37	10	75532151	75532151	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75532151A>G	ENST00000372841.3	+	1	103	c.60A>G	c.(58-60)gcA>gcG	p.A20A	RMRPP1_ENST00000517236.1_RNA|FUT11_ENST00000394790.1_Silent_p.A20A|AC022400.2_ENST00000595757.1_Silent_p.A76A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)			7	Prostate(51;0.0112)				GTGTCTGTGCAGCCAGCGGCC	0.731000																								0							SO:0001819	synonymous_variant			ENST00000372841.3	1	1	hg19	CCDS7333.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	1	0	0	17	77	0	13	0	9.518988e-02	1	2	0	13	2		0	0	0	0	0	2	1	9.999792e-01	17	76	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999799	0.990000	1	9.900000e-01	1
C10orf55	414236	broad.mit.edu	37	10	75671996	75671996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75671996G>A	ENST00000409178.1	-	4	347	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|PLAU_ENST00000446342.1_Missense_Mutation_p.G20R|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55			1	Prostate(51;0.0112)				TCTAAATGGAGGAACATGTGT	0.537000																								0							SO:0001583	missense			ENST00000409178.1	1	1	hg19	CCDS53541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.07|19.07	3.756491|3.756491	0.69648|0.69648	.|.	.|.	ENSG00000122861|ENSG00000222047	ENST00000446342;ENST00000372764|ENST00000409178;ENST00000412307	D;D|.	0.88509|.	-2.39;-2.39|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46034|0.46034	0.1372|0.1372	N|N	0.08118|0.08118	0|0	0.30985|0.30985	N|N	0.722046|0.722046	D;D;D|D	0.89917|0.76494	1.0;1.0;1.0|0.999	D;D;D|D	0.91635|0.72982	0.999;0.999;0.998|0.979	T|T	0.54682|0.54682	-0.8257|-0.8257	10|8	0.87932|0.87932	D|D	0|0	.|.	15.6365|15.6365	0.76958|0.76958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	20;37;37|3	E7ET40;B2R7F2;P00749|Q5SWW7	.;.;UROK_HUMAN|CJ055_HUMAN	R|F	20;37|3	ENSP00000388474:G20R;ENSP00000361850:G37R|.	ENSP00000361850:G37R|ENSP00000386960:L3F	G|L	+|-	1|1	0|0	PLAU|C10orf55	75342002|75342002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.267000|0.267000	0.26476|0.26476	5.921000|5.921000	0.70028|0.70028	2.768000|2.768000	0.95171|0.95171	0.491000|0.491000	0.48974|0.48974	GGA|CTC		TCGA-IB-7651-01A-11D-2154-08	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	1	0	1	49	254	0	63	1	1	13	220	0	63	2		0	0	0	0	0	2	1	1	49	245	0	63	2								-3.039967	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VCL	7414	broad.mit.edu	37	10	75863594	75863594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75863594G>A	ENST00000211998.4	+	15	2133	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_Missense_Mutation_p.R680H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin		VCL/ALK(4)	20	Prostate(51;0.0112)				TCGGCTGCTCGTATCTTACTT	0.433000																								0							SO:0001583	missense			ENST00000211998.4	1	1	hg19	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592370	0.86953	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.41400	1.0;1.0;1.0	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.80764	0.96;0.797;0.994	T	0.65557	-0.6139	10	0.56958	D	0.05	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	607;680;680	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	680;680;587;607;352	ENSP00000361841:R680H;ENSP00000211998:R680H;ENSP00000415489:R352H	ENSP00000211998:R680H	R	+	2	0	VCL	75533600	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	9.209000	0.95087	2.788000	0.95919	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	105	436	0	81	1	1	100	335	0	81	2		0	0	0	0	0	2	1	1	101	433	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP3M1	26985	broad.mit.edu	37	10	75893913	75893913	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75893913T>C	ENST00000355264.4	-	4	766	c.455A>G	c.(454-456)aAt>aGt	p.N152S	AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit			13	Prostate(51;0.0112)				GTCCCCAACATTACTACTGCC	0.418000																								0							SO:0001583	missense			ENST00000355264.4	1	1	hg19	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.972647	0.92919	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.77358	-1.09;-1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	L	0.46157	1.445	0.80722	D	1	B;B	0.23058	0.023;0.079	B;B	0.23852	0.024;0.049	T	0.69359	-0.5166	10	0.40728	T	0.16	-22.6387	16.2127	0.82178	0.0:0.0:0.0:1.0	.	98;152	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	S	152	ENSP00000347408:N152S;ENSP00000361831:N152S	ENSP00000347408:N152S	N	-	2	0	AP3M1	75563919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.236000	0.73375	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1	1	0	1	48	221	0	82	1	9.999718e-01	20	55	0	82	2		0	0	0	0	0	2	1	1	47	218	0	82	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITIH5	80760	broad.mit.edu	37	10	7605113	7605113	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7605113T>G	ENST00000256861.6	-	14	2840	c.2762A>C	c.(2761-2763)gAt>gCt	p.D921A	ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A|ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5			75					TGCCAGGTAATCCTTGTACTC	0.512000																								0							SO:0001583	missense			ENST00000256861.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	16.31	3.088393	0.55968	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.03580	4.08;3.88;3.91	5.79	4.66	0.58398	.	0.198444	0.51477	D	0.000086	T	0.12689	0.0308	.	.	.	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.57324	0.662;0.818	T	0.00299	-1.1836	9	0.87932	D	0	-16.5541	11.7484	0.51835	0.0:0.0689:0.0:0.9311	.	921;707	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	A	921;707;703	ENSP00000256861:D921A;ENSP00000298441:D707A;ENSP00000387969:D703A	ENSP00000256861:D921A	D	-	2	0	ITIH5	7645119	1.000000	0.71417	0.053000	0.19242	0.140000	0.21249	5.835000	0.69368	1.023000	0.39654	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	1	0	1	170	701	0	157	0	1	0	153	0	157	2		0	0	0	0	0	2	1	1	164	688	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITIH5	80760	broad.mit.edu	37	10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	rs112992012	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7618934C>T	ENST00000256861.6	-	10	1538	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	p.R487H(1)		75					ATAATCGATGCGGATGTCAGA	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000256861.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.20	1.285262	0.23478	9.08E-4	0.0	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.57	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	.	.	.	0.42656	D	0.993461	B;B;B	0.32604	0.008;0.377;0.224	B;B;B	0.27796	0.027;0.038;0.083	T	0.11743	-1.0575	9	0.62326	D	0.03	-23.5834	10.6681	0.45743	0.0:0.7919:0.0:0.2081	.	487;487;273	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	487;487;273;269;487	ENSP00000256861:R487H;ENSP00000380333:R487H;ENSP00000298441:R273H;ENSP00000387969:R269H;ENSP00000380332:R487H	ENSP00000256861:R487H	R	-	2	0	ITIH5	7658940	0.992000	0.36948	0.466000	0.27168	0.079000	0.17450	2.988000	0.49386	0.304000	0.22809	-0.448000	0.05591	CGC		TCGA-IB-7651-01A-11D-2154-08	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	1	0	0	28	343	0	82	0	9.996085e-01	0	150	0	82	2		0	0	0	0	0	2	1	1	28	341	0	80	2								-3.221881	1	1	121412	12	40	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.900000	0.610000	1.000000	1.000000	0.884944	0.900000	1	7.400000e-01	1
DUPD1	338599	broad.mit.edu	37	10	76803669	76803669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76803669C>T	ENST00000338487.5	-	2	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1			11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)				ATGTCCATGTCGCGGTAGTAG	0.657000																								0							SO:0001583	missense			ENST00000338487.5	1	1	hg19	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377292	0.42105	.	.	ENSG00000188716	ENST00000338487	T	0.61158	0.13	4.93	4.02	0.46733	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.052989	0.64402	D	0.000001	T	0.51176	0.1659	L	0.59967	1.855	0.51482	D	0.999928	B	0.23591	0.088	B	0.19666	0.026	T	0.45644	-0.9247	10	0.29301	T	0.29	-37.7159	11.4852	0.50350	0.0:0.8483:0.0:0.1517	.	103	Q68J44	DUPD1_HUMAN	N	103	ENSP00000340609:D103N	ENSP00000340609:D103N	D	-	1	0	DUPD1	76473675	0.998000	0.40836	0.994000	0.49952	0.446000	0.32137	3.767000	0.55288	1.055000	0.40461	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	0	0	0	16	474	0	78	0	1.261564e-03	0	2	0	78	2		0	0	0	0	0	2	1	9.999232e-01	16	464	0	78	2								-14.413860	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.400000	0.230000	1.000000	0.380000	0.454125	0.400000	0	3.000000e-01	5.400000e-01
ITIH5	80760	broad.mit.edu	37	10	7682770	7682770	+	Missense_Mutation	SNP	C	C	A	rs146396908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682770C>A	ENST00000256861.6	-	4	426	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N|ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5			75					CACCACTCTTCTTTTCTCTCT	0.373000																								0							SO:0001583	missense			ENST00000256861.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.82	2.945221	0.53079	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24538	1.85;1.85;1.85	5.71	3.86	0.44501	Vault protein inter-alpha-trypsin (2);	0.364388	0.33253	N	0.005109	T	0.40743	0.1129	.	.	.	0.42723	D	0.993683	P;D	0.60575	0.956;0.988	P;P	0.55785	0.637;0.784	T	0.31558	-0.9939	9	0.66056	D	0.02	-27.732	10.2142	0.43158	0.0:0.8446:0.0:0.1554	.	116;116	G5E9D8;Q86UX2	.;ITIH5_HUMAN	N	116	ENSP00000256861:K116N;ENSP00000380333:K116N;ENSP00000380332:K116N	ENSP00000256861:K116N	K	-	3	2	ITIH5	7722776	1.000000	0.71417	0.358000	0.25811	0.384000	0.30261	1.835000	0.39181	0.751000	0.32900	0.563000	0.77884	AAG		TCGA-IB-7651-01A-11D-2154-08	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	1	0	1	90	615	0	143	0	1	0	172	0	143	2		0	0	0	0	0	2	1	1	89	600	0	142	2								-9.554451	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ITIH5	80760	broad.mit.edu	37	10	7683960	7683960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7683960C>T	ENST00000256861.6	-	3	307	c.229G>A	c.(229-231)Gct>Act	p.A77T	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5			75					TCTTCAGAAGCTCTGTTCAGC	0.458000																								0							SO:0001583	missense			ENST00000256861.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.61	2.884008	0.51908	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24723	1.84;1.84;1.84	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.494258	0.24231	N	0.040348	T	0.42449	0.1203	.	.	.	0.30257	N	0.793545	P;P	0.49447	0.744;0.924	B;P	0.51945	0.281;0.685	T	0.34453	-0.9828	9	0.59425	D	0.04	-9.8768	19.8445	0.96703	0.0:1.0:0.0:0.0	.	77;77	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	77	ENSP00000256861:A77T;ENSP00000380333:A77T;ENSP00000380332:A77T	ENSP00000256861:A77T	A	-	1	0	ITIH5	7723966	0.929000	0.31497	0.911000	0.35937	0.038000	0.13279	3.230000	0.51286	2.695000	0.91970	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	1	0	1	83	367	0	83	0	1	1	137	0	83	2		0	0	0	0	0	2	1	1	83	360	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP13	51207	broad.mit.edu	37	10	76854490	76854490	+	Missense_Mutation	SNP	G	G	T	rs148360130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76854490G>T	ENST00000472493.2	-	4	619	c.541C>A	c.(541-543)Ctc>Atc	p.L181I	DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000491677.2_Missense_Mutation_p.L310I|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13			8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)				AGCTGCCGGAGGAAGCCTGAG	0.622000													NSCLC(174;1655 2059 12324 40663 42963)											0							SO:0001583	missense			ENST00000472493.2	1	1	hg19	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858370	0.91433	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.52	5.52	0.82312	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	L	0.52364	1.645	0.52501	D	0.999954	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.72357	-0.4318	10	0.51188	T	0.08	-4.6071	19.4454	0.94844	0.0:0.0:1.0:0.0	.	231;310;181	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	I	181;181;310;274;130;231	ENSP00000311051:L181I;ENSP00000444580:L181I;ENSP00000436312:L310I;ENSP00000434041:L130I;ENSP00000361785:L231I	ENSP00000311051:L181I	L	-	1	0	DUSP13	76524496	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.287000	0.72671	2.586000	0.87340	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3	1	0	1	38	162	0	35	0	0	1	0	0	35	2		0	0	0	0	0	2	1	1	38	161	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP13	51207	broad.mit.edu	37	10	76867809	76867809	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76867809A>C	ENST00000372702.3	-	2	371	c.308T>G	c.(307-309)aTc>aGc	p.I103S	DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000491677.2_5'UTR			Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13			8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)				GTAGGCACTGATGTCAAAATC	0.607000													NSCLC(174;1655 2059 12324 40663 42963)											0							SO:0001583	missense			ENST00000372702.3	1	1	hg19	CCDS53542.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927486	0.92389	.	.	ENSG00000079393	ENST00000372702	D	0.87966	-2.32	5.35	5.35	0.76521	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	D	0.95007	0.8384	H	0.95574	3.69	0.80722	D	1	D	0.56521	0.976	D	0.64506	0.926	D	0.96270	0.9198	9	0.87932	D	0	.	14.4397	0.67306	1.0:0.0:0.0:0.0	.	103	Q6B8I1	MDSP_HUMAN	S	103	ENSP00000361787:I103S	ENSP00000361787:I103S	I	-	2	0	DUSP13	76537815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.420000	0.90256	2.244000	0.73946	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401503.3	1	0	1	36	123	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	35	122	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD8	142891	broad.mit.edu	37	10	76928312	76928312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76928312C>T	ENST00000542569.1	+	4	791	c.688C>T	c.(688-690)Cga>Tga	p.R230*	SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*|SAMD8_ENST00000372687.4_Nonsense_Mutation_p.R230*	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8			12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)				AATACTTCTGCGAAGGCTCTG	0.453000																								0							SO:0001587	stop_gained			ENST00000542569.1	0	1	hg19	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632714	0.96682	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.208	19.5724	0.95427	0.0:1.0:0.0:0.0	.	.	.	.	X	230;293;230;230	.	ENSP00000361772:R230X	R	+	1	2	SAMD8	76598318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.624000	0.88883	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	182	741	0	159	1	9.997651e-01	4	47	0	159	2		0	0	0	0	0	2	1	1	173	725	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	C	T	rs148694864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7762890C>T	ENST00000358415.4	+	7	868	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH2_ENST00000379587.4_Silent_p.F223F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	p.F234F(2)		64					AAGGCCATTTCGATGGTGTTC	0.483000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000358415.4	1	1	hg19	CCDS31141.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	1	0	0	87	414	0	87	0	5.385488e-01	0	10	0	87	2		0	0	0	0	0	2	1	1	89	408	0	87	2								-3.254894	1	1	121412	7	43	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITIH2	3698	broad.mit.edu	37	10	7776892	7776892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7776892G>A	ENST00000358415.4	+	15	1961	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T	ITIH2_ENST00000379587.4_Missense_Mutation_p.A588T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2			64					CAGAAGCCTGGCTCCTACAGC	0.552000																								0							SO:0001583	missense			ENST00000358415.4	1	1	hg19	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123567	0.77436	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.35421	1.31;1.31	5.56	5.56	0.83823	.	0.994257	0.08171	N	0.987029	T	0.65739	0.2720	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58781	-0.7576	10	0.59425	D	0.04	-20.7694	19.541	0.95273	0.0:0.0:1.0:0.0	.	599	P19823	ITIH2_HUMAN	T	599;588	ENSP00000351190:A599T;ENSP00000368906:A588T	ENSP00000351190:A599T	A	+	1	0	ITIH2	7816898	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	9.411000	0.97342	2.609000	0.88269	0.543000	0.68304	GCT		TCGA-IB-7651-01A-11D-2154-08	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	1	0	0	33	675	0	112	0	1.955144e-01	0	17	0	112	2		0	0	0	0	0	2	1	1	32	664	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.560000	0.380000	1.000000	0.550000	0.587326	0.560000	0	4.600000e-01	6.800000e-01
ITIH2	3698	broad.mit.edu	37	10	7786082	7786082	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7786082G>T	ENST00000358415.4	+	18	2413	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	ITIH2_ENST00000379587.4_Missense_Mutation_p.K738N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2			64					GTGCCAAGAAGCCCAACAATG	0.383000																								0							SO:0001583	missense			ENST00000358415.4	1	1	hg19	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381513	0.61845	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.12984	2.63;2.63	5.43	3.58	0.41010	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.239649	0.41396	D	0.000883	T	0.29288	0.0729	M	0.76838	2.35	0.32661	N	0.518123	P	0.45986	0.87	P	0.55785	0.784	T	0.36016	-0.9765	10	0.36615	T	0.2	-16.9467	10.0692	0.42322	0.2721:0.0:0.7279:0.0	.	749	P19823	ITIH2_HUMAN	N	749;738	ENSP00000351190:K749N;ENSP00000368906:K738N	ENSP00000351190:K749N	K	+	3	2	ITIH2	7826088	0.993000	0.37304	0.883000	0.34634	0.939000	0.58152	1.666000	0.37460	0.662000	0.31006	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	1	0	1	42	158	0	47	0	7.515596e-01	0	12	0	47	2		0	0	0	0	0	2	1	1	42	157	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITIH2	3698	broad.mit.edu	37	10	7788631	7788631	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7788631G>T	ENST00000358415.4	+	20	2823	c.2657G>T	c.(2656-2658)aGc>aTc	p.S886I	ITIH2_ENST00000379587.4_Missense_Mutation_p.S875I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2			64					CCAGAGGCCAGCATGGAAGTG	0.498000																								0							SO:0001583	missense			ENST00000358415.4	1	1	hg19	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835992	0.32421	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.10288	2.89;2.89	5.27	2.32	0.28847	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.313882	0.37955	N	0.001869	T	0.08935	0.0221	L	0.54323	1.7	0.29012	N	0.886794	B	0.06786	0.001	B	0.14023	0.01	T	0.22347	-1.0219	10	0.39692	T	0.17	-10.9131	1.7834	0.03036	0.1497:0.2218:0.387:0.2414	.	886	P19823	ITIH2_HUMAN	I	886;875	ENSP00000351190:S886I;ENSP00000368906:S875I	ENSP00000351190:S886I	S	+	2	0	ITIH2	7828637	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	1.436000	0.34980	0.271000	0.22005	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	0	0	0	6	134	0	25	0	2.945455e-01	0	22	0	25	2		0	0	0	0	0	2	1	9.636486e-01	6	131	0	24	2								-8.843283	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.550000	0.220000	1.000000	1.000000	0.584620	0.550000	0	3.600000e-01	8.200000e-01
ATP5C1	509	broad.mit.edu	37	10	7840983	7840983	+	Missense_Mutation	SNP	C	C	T	rs146307767	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7840983C>T	ENST00000356708.7	+	4	333	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1			16					ATCAAGGGGCCTGAAGACAAG	0.358000													Melanoma(143;1012 1820 16249 30920 33158)											0							SO:0001583	missense			ENST00000356708.7	1	1	hg19	CCDS31142.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.33	1.905580	0.33628	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.46	4.51	0.55191	ATPase, F1 complex, gamma subunit domain (1);	0.046924	0.85682	D	0.000000	T	0.45054	0.1323	N	0.16233	0.39	0.80722	D	1	B	0.24920	0.114	B	0.31495	0.131	T	0.35699	-0.9778	9	0.32370	T	0.25	-14.5997	16.1868	0.81960	0.1332:0.8667:0.0:0.0	.	85	P36542	ATPG_HUMAN	L	85;85;38	.	ENSP00000338568:P85L	P	+	2	0	ATP5C1	7880989	0.995000	0.38212	0.992000	0.48379	0.402000	0.30811	5.706000	0.68362	2.713000	0.92767	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	1	0	1	74	282	0	66	1	1	301	770	0	66	2		0	0	0	0	0	2	1	1	73	280	0	65	2								-3.548323	1	1	121412	10	42	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNMA1	3778	broad.mit.edu	37	10	78647147	78647147	+	Silent	SNP	C	C	T	rs75138661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78647147C>T	ENST00000286628.8	-	28	3587	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	KCNMA1_ENST00000406533.3_Silent_p.S1200S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|KCNMA1_ENST00000372443.1_Silent_p.S1165S|RP11-443A13.5_ENST00000609102.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.S1179S|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000354353.5_Silent_p.S1199S|KCNMA1_ENST00000286627.5_Silent_p.S1138S|RP11-443A13.5_ENST00000458661.2_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1			68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGGAGGACTGCGACGAGTGGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000286628.8	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.339|8.339	0.828282|0.828282	0.16749|0.16749	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.11|5.11	0.661|0.661	0.17874|0.17874	.|.	.|.	.|.	.|.	.|.	T|T	0.58047|0.58047	0.2095|0.2095	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50583|0.50583	-0.8811|-0.8811	4|4	.|.	.|.	.|.	-9.7283|-9.7283	10.3757|10.3757	0.44081|0.44081	0.0:0.4673:0.3558:0.1768|0.0:0.4673:0.3558:0.1768	.|.	.|.	.|.	.|.	T|H	1127;846|1089	.|.	.|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78317153|78317153	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.979000|0.979000	0.70002|0.70002	0.538000|0.538000	0.23160|0.23160	-0.168000|-0.168000	0.10853|0.10853	-0.384000|-0.384000	0.06662|0.06662	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	1	0	1	89	376	0	88	0	9.998605e-01	0	57	0	88	2		0	0	0	0	0	2	1	1	86	369	0	86	2								-3.497695	1	1	121412	4	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNMA1	3778	broad.mit.edu	37	10	78651348	78651348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78651348C>T	ENST00000286628.8	-	26	3276	c.3277G>A	c.(3277-3279)Gcc>Acc	p.A1093T	KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|RP11-443A13.5_ENST00000609102.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A1035T|RP11-443A13.5_ENST00000458661.2_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1			68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCCCTATTGGCCAGTGTCTGC	0.627000																								0							SO:0001583	missense			ENST00000286628.8	1	1	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.4|21.4|21.4	4.138016|4.138016|4.138016	0.77775|0.77775|0.77775	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208|ENST00000372403	D;D;D;D;D;D;D;D;D|.|.	0.83992|.|.	-1.77;-1.79;-1.77;-1.78;-1.78;-1.77;-1.77;-1.78;-1.78|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|.|.	0.050022|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60287|0.60287|.	0.2257|0.2257|.	L|L|L	0.33485|0.33485|0.33485	1.01|1.01|1.01	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;B;B;P;P;B;P;B|.|.	0.76494|.|.	0.999;0.249;0.364;0.892;0.544;0.141;0.539;0.249|.|.	D;B;B;P;B;B;B;B|.|.	0.74674|.|.	0.984;0.119;0.17;0.642;0.17;0.067;0.343;0.082|.|.	T|T|.	0.53927|0.53927|.	-0.8369|-0.8369|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	-13.11|-13.11|-13.11	19.4341|19.4341|19.4341	0.94783|0.94783|0.94783	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1064;1065;1076;1093;1035;846;1096;1062|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	T|D|X	1035;972;1028;1067;1030;1062;1035;1067;1097;1096;1076;846|1023;742|985	ENSP00000361517:A1035T;ENSP00000361485:A972T;ENSP00000361514:A1028T;ENSP00000396608:A1067T;ENSP00000361520:A1062T;ENSP00000286627:A1035T;ENSP00000385552:A1097T;ENSP00000346321:A1096T;ENSP00000385806:A1076T|.|.	ENSP00000286627:A1035T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78321354|78321354|78321354	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.130000|0.130000|0.130000	0.20726|0.20726|0.20726	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.607000|2.607000|2.607000	0.88179|0.88179|0.88179	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCC|GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	1	0	0	24	233	0	54	0	8.761206e-01	0	38	0	54	2		0	0	0	0	0	2	1	9.999997e-01	23	231	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.740000	1.000000	1.000000	0.968588	0.990000	1	9.100000e-01	1
KCNMA1	3778	broad.mit.edu	37	10	78943289	78943289	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78943289A>G	ENST00000286628.8	-	5	697	c.698T>C	c.(697-699)tTt>tCt	p.F233S	KCNMA1_ENST00000406533.3_Splice_Site_p.F233S|KCNMA1_ENST00000404771.3_Splice_Site_p.F233S|KCNMA1_ENST00000372443.1_Splice_Site_p.F233S|KCNMA1_ENST00000404857.1_Splice_Site_p.F233S|KCNMA1_ENST00000372440.1_Splice_Site_p.F233S|KCNMA1_ENST00000354353.5_Splice_Site_p.F233S|KCNMA1_ENST00000286627.5_Splice_Site_p.F233S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1			68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGCTGCAATAAACTGGGGGAA	0.418000																								0							SO:0001630	splice_region_variant			ENST00000286628.8	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	26.0	4.695036	0.88830	.	.	ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.65677	2.01	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.998;0.998;1.0;0.996;0.998	D	0.99893	1.1140	10	0.87932	D	0	-10.5967	16.3593	0.83251	1.0:0.0:0.0:0.0	.	233;233;233;233;233;233	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7	.;.;.;KCMA1_HUMAN;.;.	S	233;170;168;207;170;233;233;207;233;233;233;15	ENSP00000361517:F233S;ENSP00000361485:F170S;ENSP00000361514:F168S;ENSP00000396608:F207S;ENSP00000361520:F233S;ENSP00000286627:F233S;ENSP00000385552:F233S;ENSP00000346321:F233S;ENSP00000385806:F233S	ENSP00000286627:F233S	F	-	2	0	KCNMA1	78613295	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.203000	0.95033	2.267000	0.75376	0.383000	0.25322	TTT		TCGA-IB-7651-01A-11D-2154-08	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	0	0	0	26	113	0	30	0	9.171297e-01	0	21	0	30	2		0	0	0	0	0	2	1	1	26	111	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
KCNMA1	3778	broad.mit.edu	37	10	78944632	78944632	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78944632T>C	ENST00000286628.8	-	4	644	c.645A>G	c.(643-645)ttA>ttG	p.L215L	KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000354353.5_Silent_p.L215L|KCNMA1_ENST00000286627.5_Silent_p.L215L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1			68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGTCGATCTGTAATGTGAAAT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000286628.8	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.680|7.680	0.688727|0.688727	0.14973|0.14973	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372403	.|.	.|.	.|.	5.31|5.31	2.98|2.98	0.34508|0.34508	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44651|0.44651	-0.9314|-0.9314	4|4	.|.	.|.	.|.	-8.5752|-8.5752	5.3325|5.3325	0.15940|0.15940	0.1298:0.1414:0.0:0.7288|0.1298:0.1414:0.0:0.7288	.|.	.|.	.|.	.|.	A|C	204|166	.|.	.|.	T|Y	-|-	1|2	0|0	KCNMA1|KCNMA1	78614638|78614638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.531000|2.531000	0.45650|0.45650	0.531000|0.531000	0.28639|0.28639	-0.256000|-0.256000	0.11100|0.11100	ACA|TAC		TCGA-IB-7651-01A-11D-2154-08	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	1	0	1	114	436	0	132	0	9.957252e-01	0	34	0	132	2		0	0	0	0	0	2	1	1	113	423	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLG5	9231	broad.mit.edu	37	10	79613246	79613246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:79613246C>T	ENST00000372391.2	-	5	735	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)			60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		AGCATGTCCACGTCATCCTTC	0.627000																								0							SO:0001583	missense			ENST00000372391.2	1	1	hg19	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654864	0.47467	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04862	3.57;3.54	4.6	2.7	0.31948	.	0.459506	0.16221	N	0.224044	T	0.01800	0.0057	N	0.01576	-0.805	0.23546	N	0.997444	B	0.31705	0.336	B	0.12837	0.008	T	0.42155	-0.9468	10	0.44086	T	0.13	.	3.1793	0.06579	0.1891:0.495:0.0:0.3159	.	244	Q8TDM6	DLG5_HUMAN	M	244	ENSP00000361467:V244M;ENSP00000361464:V244M	ENSP00000361464:V244M	V	-	1	0	DLG5	79283252	0.855000	0.29742	0.691000	0.30163	0.980000	0.70556	1.338000	0.33873	0.460000	0.27045	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2	1	0	1	20	88	0	19	1	9.989314e-01	5	48	0	19	2		0	0	0	0	0	2	1	9.999963e-01	19	84	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
TAF3	83860	broad.mit.edu	37	10	8006790	8006790	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8006790C>T	ENST00000344293.5	+	3	1523	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa			40					CTTCCACTTCCGCGAACAATT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000344293.5	1	1	hg19	CCDS41487.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	1	0	1	94	493	0	116	1	9.998599e-01	16	53	0	116	2		0	0	0	0	0	2	1	1	91	487	0	115	2								-2.668825	1	1	0	0		1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF3	83860	broad.mit.edu	37	10	8051129	8051129	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8051129G>A	ENST00000344293.5	+	5	2610	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa			40					ccccgcgcccgcccccggccc	0.771000																								0							SO:0001583	missense			ENST00000344293.5	0	1	hg19	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015318	0.35511	0.001011	0.0	ENSG00000165632	ENST00000344293	T	0.18502	2.21	5.53	4.62	0.57501	.	0.243575	0.27043	U	0.021214	T	0.16214	0.0390	M	0.65975	2.015	0.09310	N	1	P	0.41710	0.76	B	0.24974	0.057	T	0.17048	-1.0382	10	0.15499	T	0.54	.	17.4995	0.87727	0.0658:0.0:0.9342:0.0	.	802	Q5VWG9	TAF3_HUMAN	T	802	ENSP00000340271:A802T	ENSP00000340271:A802T	A	+	1	0	TAF3	8091135	0.629000	0.27146	0.001000	0.08648	0.000000	0.00434	1.804000	0.38873	0.712000	0.32039	-0.797000	0.03246	GCC		TCGA-IB-7651-01A-11D-2154-08	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	0	0	0	8	113	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.886988e-01	8	109	0	8	2								-12.630870	1	1	103446	5	31	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.820000	0.390000	1.000000	1.000000	0.797737	0.820000	0	5.700000e-01	1
ZMIZ1	57178	broad.mit.edu	37	10	81037008	81037008	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81037008C>T	ENST00000334512.5	+	8	923	c.351C>T	c.(349-351)agC>agT	p.S117S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1			30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		GCCGCCAGAGCGATCCCCCTG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000334512.5	1	1	hg19	CCDS7357.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	1	0	1	55	225	0	59	1	1	11	103	0	59	2		0	0	0	0	0	2	1	1	55	219	0	58	2								-3.589889	1	1	121410	4	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GATA3	2625	broad.mit.edu	37	10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8115837G>A	ENST00000346208.3	+	6	1638	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	GATA3_ENST00000379328.3_Missense_Mutation_p.A396T|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3			87					TAACCCGGCCGCCCTCTCCAG	0.562000			F, N, S		breast		HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)								Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0							SO:0001583	missense			ENST00000346208.3	1	1	hg19	CCDS7083.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.38	2.517688	0.44763	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96587	-4.06;-4.03	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	L	0.55481	1.735	0.58432	D	0.999998	D;P	0.76494	0.999;0.588	D;B	0.75020	0.985;0.239	D	0.97524	1.0075	10	0.48119	T	0.1	-12.9454	18.8714	0.92317	0.0:0.0:1.0:0.0	.	395;396	P23771;P23771-2	GATA3_HUMAN;.	T	396;395	ENSP00000368632:A396T;ENSP00000341619:A395T	ENSP00000341619:A395T	A	+	1	0	GATA3	8155843	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.707000	0.68370	2.447000	0.82792	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	1	0	1	118	462	0	90	0	5.734949e-01	0	9	0	90	2		0	0	0	0	0	2	1	1	114	468	0	94	2								-3.538525	1	1	121412	20	45	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC24	219654	broad.mit.edu	37	10	81192458	81192458	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81192458G>A	ENST00000372336.3	-	2	489	c.303C>T	c.(301-303)atC>atT	p.I101I	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.R42C	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24			9					GGCCATCGGCGATGTTGTTGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000372336.3	1	1	hg19	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.912981	0.17907	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.96	-0.211	0.13172	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.31535	N	0.660723	B	0.13145	0.007	B	0.09377	0.004	T	0.26643	-1.0097	7	0.87932	D	0	-7.9604	7.8954	0.29704	0.4477:0.0:0.4252:0.1272	.	42	Q5W133	.	C	42	.	ENSP00000361408:R42C	R	-	1	0	ZCCHC24	80862464	0.994000	0.37717	0.856000	0.33681	0.836000	0.47400	0.284000	0.18864	-0.561000	0.06094	-2.048000	0.00412	CGC		TCGA-IB-7651-01A-11D-2154-08	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	0	0	1	38	200	0	55	0	9.999890e-01	0	95	0	55	2		0	0	0	0	0	2	1	1	36	197	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
EIF5AL1	143244	broad.mit.edu	37	10	81272742	81272742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81272742C>T	ENST00000520547.2	+	1	386	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1			1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		AGAGGACCTTCGTCTCCCTGA	0.552000																								0							SO:0001583	missense			ENST00000520547.2	1	1	hg19	CCDS53546.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265789	0.23136	.	.	ENSG00000253626	ENST00000520547	T	0.47177	0.85	1.02	-2.03	0.07365	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.34106	0.0886	L	0.53617	1.68	0.29802	N	0.832317	B	0.21520	0.057	B	0.17098	0.017	T	0.39522	-0.9610	9	0.59425	D	0.04	.	0.3345	0.00324	0.2341:0.3108:0.234:0.2211	.	113	Q6IS14	IF5AL_HUMAN	C	113	ENSP00000430706:R113C	ENSP00000430706:R113C	R	+	1	0	EIF5AL1	80942748	0.013000	0.17824	0.870000	0.34147	0.417000	0.31264	-0.061000	0.11693	-0.418000	0.07450	-0.604000	0.04097	CGT		TCGA-IB-7651-01A-11D-2154-08	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	0	0	0	45	588	0	153	0	2.889960e-02	0	4	0	153	2		0	0	0	0	0	2	1	1	43	540	0	180	2								-3.142702	1	1	121364	1	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.850000	0.620000	1.000000	1.000000	0.857889	0.850000	1	7.300000e-01	1
SFTPA1	653509	broad.mit.edu	37	10	81372118	81372118	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81372118C>T	ENST00000398636.3	+	4	361	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	SFTPA1_ENST00000372313.5_Silent_p.L16L|SFTPA1_ENST00000428376.2_Silent_p.L75L|SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000419470.2_Silent_p.L90L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1			12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		AAATGATGGGCTGCCTGGAGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000398636.3	1	1	hg19	CCDS44445.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	179	775	0	206	0	0	0	1	0	206	2		0	0	0	0	0	2	1	1	173	755	0	203	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFTPD	6441	broad.mit.edu	37	10	81702155	81702155	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81702155G>T	ENST00000372292.3	-	4	462	c.422C>A	c.(421-423)gCt>gAt	p.A141D		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D			17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		TTTGGGCCCAGCTTCTCCTTT	0.607000																								0							SO:0001583	missense			ENST00000372292.3	1	1	hg19	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	g	15.58	2.875673	0.51695	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	T;T	0.55234	0.53;0.53	5.02	5.02	0.67125	.	0.705366	0.12727	N	0.444178	T	0.41166	0.1147	L	0.28400	0.85	0.39602	D	0.969755	P	0.40476	0.718	B	0.39379	0.298	T	0.17592	-1.0364	10	0.12103	T	0.63	0.1107	13.8133	0.63276	0.0:0.0:1.0:0.0	.	141	P35247	SFTPD_HUMAN	D	141;154	ENSP00000361366:A141D;ENSP00000394325:A154D	ENSP00000361366:A141D	A	-	2	0	SFTPD	81692135	0.071000	0.21146	0.996000	0.52242	0.865000	0.49528	0.992000	0.29667	2.311000	0.77944	0.457000	0.33378	GCT		TCGA-IB-7651-01A-11D-2154-08	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1	1	0	1	54	232	0	51	0	9.646820e-02	0	3	0	51	2		0	0	0	0	0	2	1	1	54	229	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANXA11	311	broad.mit.edu	37	10	81932582	81932582	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81932582G>T	ENST00000438331.1	-	4	518	c.36C>A	c.(34-36)ggC>ggA	p.G12G	ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Silent_p.G12G|ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000265447.4_Silent_p.G12G	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11			17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)		CTGGTGGGTAGCCACCTGGGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000438331.1	1	1	hg19	CCDS7364.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	0	0	0	15	503	0	69	1	9.999995e-01	55	917	0	69	2		0	0	0	0	0	2	1	9.998477e-01	14	491	0	68	2								-3.083669	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.350000	0.200000	1.000000	0.340000	0.413428	0.350000	0	2.700000e-01	4.900000e-01
MAT1A	4143	broad.mit.edu	37	10	82043688	82043688	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:82043688G>A	ENST00000372213.3	-	3	536	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha			26			Colorectal(32;0.229)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGAGTCATCGTAGCCGATGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000372213.3	1	0	hg19	CCDS7365.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	1	0	1	39	189	0	61	0	3.086768e-02	0	2	0	61	2		0	0	0	0	0	2	1	1	39	184	0	61	2								-1.418985	0	1	121412	17	40	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SH2D4B	387694	broad.mit.edu	37	10	82331321	82331321	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:82331321A>C	ENST00000470604.2	+	3	479	c.479A>C	c.(478-480)cAc>cCc	p.H160P	SH2D4B_ENST00000339284.2_Missense_Mutation_p.H161P|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H112P			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B			13			Colorectal(32;0.229)		GAACGCATCCACGAGGAATTC	0.592000																								0							SO:0001583	missense			ENST00000470604.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	4.671	0.124666	0.08931	.	.	ENSG00000178217	ENST00000339284;ENST00000372147;ENST00000470604;ENST00000313455	T;T;T	0.11495	2.77;2.77;2.77	5.64	2.0	0.26442	.	0.550749	0.17151	N	0.185041	T	0.05868	0.0153	N	0.11427	0.14	0.09310	N	0.999999	B;D	0.53151	0.209;0.958	B;P	0.44990	0.081;0.466	T	0.33163	-0.9879	10	0.29301	T	0.29	-14.738	5.6807	0.17774	0.702:0.1438:0.1542:0.0	.	112;161	Q5SQS7-3;Q5SQS7-2	.;.	P	161;160;160;112	ENSP00000345295:H161P;ENSP00000417953:H160P;ENSP00000314242:H112P	ENSP00000314242:H112P	H	+	2	0	SH2D4B	82321301	0.984000	0.35163	0.127000	0.21898	0.417000	0.31264	3.202000	0.51067	0.094000	0.17404	0.459000	0.35465	CAC		TCGA-IB-7651-01A-11D-2154-08	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	7	287	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	9.797383e-01	7	282	0	76	2								-8.044368	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.310000	0.130000	1.000000	0.280000	0.370980	0.310000	0	2.000000e-01	4.700000e-01
GHITM	27069	broad.mit.edu	37	10	85901277	85901277	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85901277G>A	ENST00000372134.3	+	2	214	c.21G>A	c.(19-21)gtG>gtA	p.V7V	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein			10					CAAGGCTGGTGTGTCTCCGGA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000372134.3	1	1	hg19	CCDS41542.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	0	0	0	14	419	0	83	1	9.999893e-01	18	625	0	83	2		0	0	0	0	0	2	1	9.997386e-01	14	413	0	83	2								-13.322940	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.400000	0.220000	1.000000	0.380000	0.452900	0.400000	0	3.000000e-01	5.500000e-01
CDHR1	92211	broad.mit.edu	37	10	85955302	85955302	+	Silent	SNP	C	C	T	rs143674495		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85955302C>T	ENST00000372117.3	+	2	211	c.108C>T	c.(106-108)aaC>aaT	p.N36N	CDHR1_ENST00000332904.3_Silent_p.N36N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1			36					GCAGCACCAACGGAAACATGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000372117.3	1	1	hg19	CCDS7372.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	0	12	153	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.991997e-01	12	152	0	40	2								-16.443520	1	1	121412	35	47	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.900000	0.490000	1.000000	1.000000	0.855721	0.900000	1	6.600000e-01	1
CDHR1	92211	broad.mit.edu	37	10	85973961	85973961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85973961G>A	ENST00000372117.3	+	17	2267	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1			36					CATCTCCACCGCCACCTTCTG	0.637000																								0							SO:0001583	missense			ENST00000372117.3	1	1	hg19	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544279	0.96488	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.58652	0.56;0.32	5.53	5.53	0.82687	.	0.094075	0.64402	D	0.000001	T	0.75148	0.3810	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.69479	0.9;0.964	T	0.75852	-0.3171	10	0.52906	T	0.07	-17.1913	18.2273	0.89921	0.0:0.0:1.0:0.0	.	426;722	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	722;426	ENSP00000361189:A722T;ENSP00000415980:A426T	ENSP00000361189:A722T	A	+	1	0	CDHR1	85963941	1.000000	0.71417	0.963000	0.40424	0.852000	0.48524	7.632000	0.83247	2.596000	0.87737	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	1	123	524	0	135	0	0	0	1	0	135	2		0	0	0	0	0	2	1	1	119	507	0	131	2								-3.216429	1	1	121410	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDHR1	92211	broad.mit.edu	37	10	85974159	85974159	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974159C>A	ENST00000372117.3	+	17	2465	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1			36					AAGCTCTCTGCTCCCGAGAGC	0.592000																								0							SO:0001583	missense			ENST00000372117.3	1	1	hg19	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127601	0.37533	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56275	0.63;0.47	5.49	3.6	0.41247	.	0.193736	0.56097	D	0.000028	T	0.32224	0.0822	N	0.14661	0.345	0.21220	N	0.999757	B;B	0.18610	0.001;0.029	B;B	0.13407	0.0;0.009	T	0.14200	-1.0481	10	0.16896	T	0.51	-21.5171	11.5494	0.50713	0.1411:0.7231:0.1357:0.0	.	492;788	E7EN47;Q96JP9	.;CDHR1_HUMAN	I	788;492	ENSP00000361189:L788I;ENSP00000415980:L492I	ENSP00000361189:L788I	L	+	1	0	CDHR1	85964139	0.501000	0.26099	0.518000	0.27811	0.416000	0.31233	2.253000	0.43205	0.653000	0.30826	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	1	85	725	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	84	711	0	142	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999267	0.990000	1	9.900000e-01	1
CDHR1	92211	broad.mit.edu	37	10	85974198	85974198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974198G>A	ENST00000372117.3	+	17	2504	c.2401G>A	c.(2401-2403)Gcg>Acg	p.A801T	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1			36					ACCCAGCGTGGCGCCCAGCAC	0.602000																								0							SO:0001583	missense			ENST00000372117.3	1	1	hg19	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833474	0.32421	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.56776	0.61;0.44	5.49	2.03	0.26663	.	0.963762	0.08721	N	0.903404	T	0.40222	0.1108	L	0.47716	1.5	0.09310	N	1	B;B	0.33583	0.017;0.418	B;B	0.27380	0.004;0.079	T	0.33650	-0.9860	10	0.49607	T	0.09	-16.1193	4.2007	0.10464	0.143:0.1398:0.5748:0.1425	.	505;801	E7EN47;Q96JP9	.;CDHR1_HUMAN	T	801;505	ENSP00000361189:A801T;ENSP00000415980:A505T	ENSP00000361189:A801T	A	+	1	0	CDHR1	85964178	0.003000	0.15002	0.002000	0.10522	0.030000	0.12068	1.349000	0.33998	0.643000	0.30638	-0.282000	0.10007	GCG		TCGA-IB-7651-01A-11D-2154-08	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	1	172	735	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	166	720	0	149	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRIT2	340745	broad.mit.edu	37	10	85984832	85984832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85984832G>A	ENST00000372113.4	-	2	154	c.149C>T	c.(148-150)cCt>cTt	p.P50L	LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2			32					AAGGTTCCCAGGGATCTTTCC	0.453000																								0							SO:0001583	missense			ENST00000372113.4	1	1	hg19	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977243	0.34848	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.60920	0.15;0.15	5.71	2.51	0.30379	Leucine-rich repeat-containing N-terminal (1);	0.121035	0.56097	D	0.000024	T	0.50905	0.1643	M	0.64567	1.98	0.80722	D	1	P;P	0.47962	0.903;0.903	B;B	0.41236	0.351;0.351	T	0.51585	-0.8687	10	0.59425	D	0.04	.	8.0511	0.30579	0.118:0.0:0.7202:0.1618	.	50;50	B7ZME6;A6NDA9	.;LRIT2_HUMAN	L	50	ENSP00000361185:P50L;ENSP00000438264:P50L	ENSP00000361185:P50L	P	-	2	0	LRIT2	85974812	1.000000	0.71417	0.563000	0.28383	0.537000	0.34900	5.317000	0.65822	0.603000	0.29913	0.585000	0.79938	CCT		TCGA-IB-7651-01A-11D-2154-08	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	1	0	1	64	340	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	64	327	0	91	2								-2.673519	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRIT1	26103	broad.mit.edu	37	10	85997326	85997326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85997326C>A	ENST00000372105.3	-	2	260	c.239G>T	c.(238-240)aGg>aTg	p.R80M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1			23					GCCCAGGGGCCTGAAGGCCTC	0.721000																								0							SO:0001583	missense			ENST00000372105.3	1	1	hg19	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086511	0.36855	0.0	1.19E-4	ENSG00000148602	ENST00000372105	T	0.52983	0.64	5.42	-0.953	0.10362	.	1.510790	0.03923	N	0.283947	T	0.42471	0.1204	M	0.73319	2.225	0.09310	N	1	P	0.37101	0.582	B	0.37198	0.243	T	0.23726	-1.0180	10	0.33141	T	0.24	.	0.1121	0.00057	0.3439:0.22:0.1707:0.2655	.	80	Q9P2V4	LRIT1_HUMAN	M	80	ENSP00000361177:R80M	ENSP00000361177:R80M	R	-	2	0	LRIT1	85987306	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	0.770000	0.26618	-0.040000	0.13580	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	1	0	1	41	200	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	40	196	0	34	2								-20.000000	1	1	120240	4	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RGR	5995	broad.mit.edu	37	10	86012754	86012754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:86012754C>A	ENST00000359452.4	+	4	550	c.512C>A	c.(511-513)tCc>tAc	p.S171Y	RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor			17					CTGGACTACTCCAAGGGGGAC	0.577000													NSCLC(15;204 545 5889 6385 32445)											0							SO:0001583	missense			ENST00000359452.4	1	1	hg19	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452780	0.63290	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.37235	1.21;1.21	4.92	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.175561	0.64402	D	0.000013	T	0.52208	0.1720	L	0.56769	1.78	0.49213	D	0.999762	D;D;B	0.89917	0.96;1.0;0.051	P;D;B	0.70935	0.6;0.971;0.102	T	0.44019	-0.9355	10	0.36615	T	0.2	.	13.1354	0.59405	0.0:0.7335:0.2664:0.0	.	167;171;167	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	Y	171;167	ENSP00000352427:S171Y;ENSP00000350823:S167Y	ENSP00000350823:S167Y	S	+	2	0	RGR	86002734	0.997000	0.39634	0.990000	0.47175	0.971000	0.66376	1.366000	0.34193	2.667000	0.90743	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	1	0	1	45	176	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	43	174	0	38	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARP4B	23185	broad.mit.edu	37	10	871234	871234	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:871234G>A	ENST00000316157.3	-	12	1295	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B			38					ATCGCATGCCGCAGATGAGAT	0.378000																								0							SO:0001583	missense			ENST00000316157.3	1	1	hg19	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901055	0.72754	.	.	ENSG00000107929	ENST00000316157	T	0.38240	1.15	5.57	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56601	-0.7952	10	0.87932	D	0	-3.5475	14.4915	0.67654	0.0704:0.0:0.9296:0.0	.	419	Q92615	LAR4B_HUMAN	W	419	ENSP00000326128:R419W	ENSP00000326128:R419W	R	-	1	2	LARP4B	861234	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.115000	0.57865	1.379000	0.46325	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	0	0	0	16	490	0	89	1	9.580185e-01	7	156	0	89	2		0	0	0	0	0	2	1	9.999270e-01	16	483	0	89	2								-2.937911	1	1	121412	2	32	1	1	2	3	2.000167	0	0.170000	2.060000	1.749093e-01	0.380000	0.220000	1.000000	0.370000	0.426234	0.380000	0	2.900000e-01	5.100000e-01
GRID1	2894	broad.mit.edu	37	10	87373312	87373312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87373312C>T	ENST00000327946.7	-	15	2538	c.2453G>A	c.(2452-2454)aGc>aAc	p.S818N	GRID1_ENST00000536331.1_Missense_Mutation_p.S389N|GRID1_ENST00000552278.2_5'Flank	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1			106					GGCCTGGGCGCTGGCATGGCT	0.647000										Multiple Myeloma(13;0.14)														0							SO:0001583	missense			ENST00000327946.7	1	1	hg19	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344150	0.24339	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.15017	2.64;2.46	5.74	4.84	0.62591	Ionotropic glutamate receptor (1);	0.732309	0.14818	N	0.296678	T	0.08403	0.0209	N	0.10645	0.015	0.21675	N	0.999598	B	0.02656	0.0	B	0.04013	0.001	T	0.32640	-0.9899	10	0.22706	T	0.39	.	7.7553	0.28921	0.0:0.7523:0.0:0.2477	.	818	Q9ULK0	GRID1_HUMAN	N	818;389	ENSP00000330148:S818N;ENSP00000444455:S389N	ENSP00000330148:S818N	S	-	2	0	GRID1	87363292	0.002000	0.14202	0.856000	0.33681	0.776000	0.43924	0.701000	0.25616	1.433000	0.47394	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1	100	423	0	99	0	9.981454e-01	0	42	0	99	2		0	0	0	0	0	2	1	1	99	410	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRID1	2894	broad.mit.edu	37	10	87379700	87379700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87379700C>T	ENST00000327946.7	-	14	2369	c.2284G>A	c.(2284-2286)Ggc>Agc	p.G762S	GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1			106					ATGCTGTTGCCGATGACAGTC	0.582000										Multiple Myeloma(13;0.14)														0							SO:0001583	missense			ENST00000327946.7	1	1	hg19	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851330	0.71719	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14640	2.49;2.49	5.28	1.4	0.22301	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.199677	0.52532	N	0.000065	T	0.21227	0.0511	M	0.85542	2.76	0.80722	D	1	P	0.45715	0.865	B	0.43194	0.411	T	0.03555	-1.1025	10	0.59425	D	0.04	.	9.3267	0.37997	0.0:0.7095:0.0:0.2905	.	762	Q9ULK0	GRID1_HUMAN	S	762;333	ENSP00000330148:G762S;ENSP00000444455:G333S	ENSP00000330148:G762S	G	-	1	0	GRID1	87369680	0.902000	0.30710	0.140000	0.22221	0.797000	0.45037	1.842000	0.39250	-0.002000	0.14469	-0.291000	0.09656	GGC		TCGA-IB-7651-01A-11D-2154-08	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	0	27	263	0	69	0	9.391074e-01	0	48	0	69	2		0	0	0	0	0	2	1	1	26	262	0	69	2								-2.806910	1	1	121412	1	28	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.970878	0.990000	1	9.200000e-01	1
GRID1	2894	broad.mit.edu	37	10	87482893	87482893	+	Missense_Mutation	SNP	C	C	T	rs148165863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87482893C>T	ENST00000327946.7	-	12	1949	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1			106					ACGGAAGATTCGCCACCTGCG	0.602000										Multiple Myeloma(13;0.14)														0							SO:0001583	missense			ENST00000327946.7	1	1	hg19	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	37	6.036777	0.97226	2.27E-4	1.16E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54071	0.59;0.59	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.358222	0.33959	N	0.004383	T	0.57036	0.2026	M	0.83774	2.66	0.80722	D	1	P	0.39847	0.691	B	0.31390	0.129	T	0.66516	-0.5904	10	0.72032	D	0.01	.	19.0942	0.93242	0.0:1.0:0.0:0.0	.	622	Q9ULK0	GRID1_HUMAN	K	622;193	ENSP00000330148:E622K;ENSP00000444455:E193K	ENSP00000330148:E622K	E	-	1	0	GRID1	87472873	1.000000	0.71417	0.118000	0.21660	0.398000	0.30690	7.743000	0.85020	2.762000	0.94881	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1	30	151	0	49	0	9.927264e-01	0	42	0	49	2		0	0	0	0	0	2	1	1	30	151	0	49	2								-20.000000	1	1	121410	13	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
GRID1	2894	broad.mit.edu	37	10	88123711	88123711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88123711C>A	ENST00000327946.7	-	2	307	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1			106					CCTGCACAGCCTGGAATGGGT	0.627000										Multiple Myeloma(13;0.14)														0							SO:0001583	missense			ENST00000327946.7	1	1	hg19	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477742	0.44044	.	.	ENSG00000182771	ENST00000327946	D	0.83163	-1.69	4.96	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.194154	0.33382	N	0.004973	T	0.69895	0.3162	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60667	-0.7218	10	0.25106	T	0.35	.	5.0502	0.14505	0.1782:0.6465:0.0:0.1754	.	74	Q9ULK0	GRID1_HUMAN	H	74	ENSP00000330148:Q74H	ENSP00000330148:Q74H	Q	-	3	2	GRID1	88113691	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.223000	0.58587	1.087000	0.41251	-0.347000	0.07816	CAG		TCGA-IB-7651-01A-11D-2154-08	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1	47	296	0	55	0	7.801836e-01	1	19	0	55	2		0	0	0	0	0	2	1	1	46	293	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
WAPAL	23063	broad.mit.edu	37	10	88211754	88211754	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88211754T>C	ENST00000298767.5	-	15	3556	c.3084A>G	c.(3082-3084)ggA>ggG	p.G1028G	WAPAL_ENST00000372075.1_Intron|WAPAL_ENST00000263070.7_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)			31					CATGAACTTGTCCACCTATCC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000298767.5	1	1	hg19	CCDS7375.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	1	0	1	82	350	0	84	1	9.999999e-01	17	83	0	84	2		0	0	0	0	0	2	1	1	82	345	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPN4	94233	broad.mit.edu	37	10	88419688	88419688	+	Silent	SNP	C	C	T	rs141316756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88419688C>T	ENST00000241891.5	+	6	1004	c.837C>T	c.(835-837)ggC>ggT	p.G279G	OPN4_ENST00000372071.2_Silent_p.G290G	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4			18					AGGGCAATGGCGAGTCCCTGT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000241891.5	1	1	hg19	CCDS7376.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	1	0	1	50	269	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	50	263	0	53	2								-19.999990	1	1	121412	3	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LDB3	11155	broad.mit.edu	37	10	88452318	88452318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88452318C>T	ENST00000361373.4	+	6	907	c.886C>T	c.(886-888)Cga>Tga	p.R296*	LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000429277.2_Nonsense_Mutation_p.R364*	NM_007078.2	NP_009009.1			LIM domain binding 3			25					AGAAGCTCTGCGAAGGTCAAG	0.607000																								0							SO:0001587	stop_gained			ENST00000361373.4	0	1	hg19	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	37	5.985369	0.97173	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373	.	.	.	5.92	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	13.8726	0.63629	0.6723:0.3277:0.0:0.0	.	.	.	.	X	296;364;249;249;249;364;296;296	.	ENSP00000263066:R249X	R	+	1	2	LDB3	88442298	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	2.550000	0.45811	0.828000	0.34709	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2	1	0	1	83	398	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	1	81	391	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMPR1A	657	broad.mit.edu	37	10	88659555	88659555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88659555C>A	ENST00000372037.3	+	6	875	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA			24					TTTTAGGATTCTCCAAAAGCC	0.353000			Mis, N, F			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	bone morphogenetic protein receptor, type IA		E	0							SO:0001583	missense	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	ENST00000372037.3	1	1	hg19	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739875	0.69304	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.90444	-2.67	5.2	5.2	0.72013	TGF-beta receptor/activin receptor, type I/II (1);	0.060693	0.64402	D	0.000002	D	0.93562	0.7945	M	0.62266	1.93	0.80722	D	1	D	0.55385	0.971	P	0.62491	0.903	D	0.92920	0.6354	10	0.42905	T	0.14	.	16.0145	0.80427	0.0:1.0:0.0:0.0	.	113	P36894	BMR1A_HUMAN	Y	113	ENSP00000361107:S113Y	ENSP00000224764:S113Y	S	+	2	0	BMPR1A	88649535	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.954000	0.76001	2.585000	0.87301	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	1	0	0	56	232	0	57	1	9.999077e-01	10	50	0	57	2		0	0	0	0	0	2	1	1	52	231	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMRN2	79812	broad.mit.edu	37	10	88696774	88696774	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88696774T>C	ENST00000372027.5	-	7	2897	c.2576A>G	c.(2575-2577)cAt>cGt	p.H859R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2			19					GAAGTAGCCATGTTCAGGGAA	0.562000																								0							SO:0001583	missense			ENST00000372027.5	1	1	hg19	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.368757	0.61624	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.74737	-0.87	4.9	4.9	0.64082	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.369029	0.25750	N	0.028548	D	0.85418	0.5692	M	0.80028	2.48	0.36349	D	0.859949	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.968	D	0.89244	0.3586	10	0.51188	T	0.08	-9.9338	13.1707	0.59595	0.0:0.0:0.0:1.0	.	637;859	E7EN39;Q9H8L6	.;MMRN2_HUMAN	R	859;637	ENSP00000361097:H859R	ENSP00000361097:H859R	H	-	2	0	MMRN2	88686754	0.988000	0.35896	0.195000	0.23364	0.970000	0.65996	2.644000	0.46613	1.858000	0.53909	0.456000	0.33151	CAT		TCGA-IB-7651-01A-11D-2154-08	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	1	0	0	16	291	0	62	0	9.080087e-01	0	78	0	62	2		0	0	0	0	0	2	1	9.999226e-01	16	282	0	61	2								-18.964820	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.640000	0.370000	1.000000	0.600000	0.670626	0.640000	0	4.900000e-01	8.600000e-01
MMRN2	79812	broad.mit.edu	37	10	88702615	88702615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88702615C>A	ENST00000372027.5	-	6	2247	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2			19					TAGCGGCGTCCTGCAGGGCCA	0.741000																								0							SO:0001583	missense			ENST00000372027.5	0	1	hg19	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	6.797	0.516103	0.12944	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.15487	2.42	5.24	1.94	0.25998	.	1.250660	0.05698	N	0.593613	T	0.19967	0.0480	L	0.51422	1.61	0.09310	N	0.999997	D;P;P	0.57899	0.981;0.855;0.855	P;B;B	0.45195	0.473;0.359;0.258	T	0.22034	-1.0228	10	0.49607	T	0.09	-6.1725	6.6801	0.23115	0.2805:0.5612:0.0:0.1583	.	420;581;642	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	H	642;420	ENSP00000361097:Q642H	ENSP00000361097:Q642H	Q	-	3	2	MMRN2	88692595	0.000000	0.05858	0.330000	0.25442	0.023000	0.10783	0.287000	0.18920	0.572000	0.29383	-0.391000	0.06502	CAG		TCGA-IB-7651-01A-11D-2154-08	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	0	0	0	5	50	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.376147e-01	5	49	0	12	2								-10.991290	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.440000	1.000000	1.000000	0.904810	0.990000	1	7.300000e-01	1
MMRN2	79812	broad.mit.edu	37	10	88703517	88703517	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703517T>G	ENST00000372027.5	-	6	1345	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2			19					TCCTGAGCCTTGTGCAGCCTC	0.647000																								0							SO:0001583	missense			ENST00000372027.5	1	1	hg19	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947118	0.53186	.	.	ENSG00000173269	ENST00000372027	T	0.70164	-0.46	4.96	4.96	0.65561	.	0.221156	0.34603	N	0.003839	T	0.76521	0.3999	M	0.72894	2.215	0.09310	N	1	D;D	0.76494	0.995;0.999	D;D	0.66084	0.941;0.941	T	0.67397	-0.5681	10	0.28530	T	0.3	-38.1567	10.4972	0.44785	0.0:0.0:0.1627:0.8372	.	281;342	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	Q	342	ENSP00000361097:K342Q	ENSP00000361097:K342Q	K	-	1	0	MMRN2	88693497	.	.	0.133000	0.22050	0.927000	0.56198	.	.	1.859000	0.53934	0.379000	0.24179	AAG		TCGA-IB-7651-01A-11D-2154-08	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	1	0	1	57	246	0	56	0	9.990850e-01	1	47	0	56	2		0	0	0	0	0	2	1	1	55	241	0	55	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGAP11	119385	broad.mit.edu	37	10	88768262	88768262	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88768262C>T	ENST00000444431.1	+	0	2862				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11								CATTTGCAAGCAGTCCATGGG	0.547000																								0											ENST00000444431.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	0	0	0	102	957	0	204	0	0	0	1	0	204	2		0	0	0	0	0	2	1	1	96	942	0	200	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.940000	1.000000	1.000000	0.996679	0.990000	1	9.900000e-01	1
AGAP11	119385	broad.mit.edu	37	10	88769136	88769136	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88769136G>A	ENST00000444431.1	+	0	3736				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11								CTTGGCACCCGCCTTTCCCGT	0.522000																								0											ENST00000444431.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	0	0	0	270	1182	0	285	1	9.146188e-02	2	1	0	285	2		0	0	0	0	0	2	1	1	250	1061	0	316	2								-20.000000	1	1	121410	15	45	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM35A	54537	broad.mit.edu	37	10	88930603	88930603	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88930603T>C	ENST00000298784.1	+	6	1949	c.1835T>C	c.(1834-1836)gTa>gCa	p.V612A	FAM35A_ENST00000298786.4_Missense_Mutation_p.V612A	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A			16					CCAGAGGCAGTATACAGTTAT	0.393000													Ovarian(175;703 2004 25460 32514 43441)											0							SO:0001583	missense			ENST00000298784.1	1	1	hg19	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	t	6.964	0.547799	0.13312	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.63580	-0.05;-0.05;-0.05	4.05	1.68	0.24146	.	0.921660	0.09014	N	0.861050	T	0.49423	0.1556	L	0.34521	1.04	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.41770	-0.9490	10	0.48119	T	0.1	0.1994	6.7529	0.23497	0.0:0.2922:0.0:0.7078	.	612	Q86V20	FA35A_HUMAN	A	612	ENSP00000298786:V612A;ENSP00000298784:V612A;ENSP00000351064:V612A	ENSP00000298784:V612A	V	+	2	0	FAM35A	88920583	0.007000	0.16637	0.026000	0.17262	0.969000	0.65631	0.482000	0.22276	0.235000	0.21160	0.491000	0.48974	GTA		TCGA-IB-7651-01A-11D-2154-08	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	0	0	1	64	279	0	57	1	9.999947e-01	27	53	0	57	2		0	0	0	0	0	2	1	1	63	259	0	87	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM35A	54537	broad.mit.edu	37	10	88940025	88940025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88940025C>T	ENST00000298784.1	+	7	2271	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	FAM35A_ENST00000298786.4_Silent_p.S788S	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A			16					AATGTTTTAGCTGCTTGCCAT	0.323000													Ovarian(175;703 2004 25460 32514 43441)											0							SO:0001819	synonymous_variant			ENST00000298784.1	1	1	hg19	CCDS7383.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	1	0	0	51	236	0	76	1	9.999110e-01	18	49	0	76	2		0	0	0	0	0	2	1	1	48	226	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM35A	54537	broad.mit.edu	37	10	88946903	88946903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88946903C>T	ENST00000298784.1	+	8	2368	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	FAM35A_ENST00000298786.4_Silent_p.L821L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A			16					AGAATCAAAGCTGATAGAGAA	0.383000													Ovarian(175;703 2004 25460 32514 43441)											0							SO:0001819	synonymous_variant			ENST00000298784.1	1	1	hg19	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	C	8.189	0.795558	0.16327	.	.	ENSG00000122376	ENST00000342900	.	.	.	3.13	-0.513	0.11962	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.36929	D	0.891807	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	-4.7816	4.7335	0.12977	0.4:0.4123:0.0:0.1877	.	.	.	.	V	475	.	.	A	+	2	0	FAM35A	88936883	0.229000	0.23729	0.362000	0.25862	0.629000	0.37895	-0.559000	0.05971	0.136000	0.18733	0.194000	0.17425	GCT		TCGA-IB-7651-01A-11D-2154-08	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	1	0	1	46	258	0	71	1	9.999964e-01	29	79	0	71	2		0	0	0	0	0	2	1	1	43	250	0	71	2								-19.998300	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PAPSS2	9060	broad.mit.edu	37	10	89473032	89473032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89473032G>A	ENST00000361175.4	+	3	715	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I|PAPSS2_ENST00000482258.1_3'UTR	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2			20		Melanoma(5;0.019)|Colorectal(252;0.123)			TGCTGGTCTGGTCTGCATTAC	0.448000																								0							SO:0001583	missense			ENST00000361175.4	1	1	hg19	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341184	0.24339	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.74842	-0.88;-0.88;-0.88	5.78	1.9	0.25705	Adenylylsulphate kinase, C-terminal (3);	0.167857	0.52532	N	0.000075	T	0.47820	0.1466	N	0.04959	-0.14	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.002	T	0.23226	-1.0194	10	0.08599	T	0.76	-13.2731	10.4387	0.44452	0.2627:0.0:0.7373:0.0	.	116;116	O95340;O95340-2	PAPS2_HUMAN;.	I	116;116;120;115	ENSP00000354436:V116I;ENSP00000406157:V116I;ENSP00000397123:V120I	ENSP00000354436:V116I	V	+	1	0	PAPSS2	89463012	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	3.235000	0.51328	0.097000	0.17492	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1	1	0	1	72	334	0	67	1	1	12	117	0	67	2		0	0	0	0	0	2	1	1	67	327	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAPSS2	9060	broad.mit.edu	37	10	89487110	89487110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89487110G>A	ENST00000361175.4	+	8	1304	c.935G>A	c.(934-936)gGg>gAg	p.G312E	PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E|PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2			20		Melanoma(5;0.019)|Colorectal(252;0.123)			CGGCTGGAAGGGTGCAGCAAG	0.512000																								0							SO:0001583	missense			ENST00000361175.4	1	1	hg19	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018327	0.35606	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.19394	2.15;2.15;2.15	5.74	4.74	0.60224	Sulphate adenylyltransferase (2);PUA-like domain (1);	0.136189	0.64402	N	0.000002	T	0.16128	0.0388	L	0.39020	1.185	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.21151	0.033;0.003	T	0.06826	-1.0805	10	0.16420	T	0.52	-21.1853	10.3775	0.44090	0.1616:0.0:0.8384:0.0	.	312;317	O95340;O95340-2	PAPS2_HUMAN;.	E	312;317;316;316	ENSP00000354436:G312E;ENSP00000406157:G317E;ENSP00000397123:G316E	ENSP00000354436:G312E	G	+	2	0	PAPSS2	89477090	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	4.538000	0.60650	1.259000	0.44117	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1	1	0	1	53	254	0	71	1	1	7	140	0	71	2		0	0	0	0	0	2	1	1	53	248	0	71	2								-3.023700	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNLS	55328	broad.mit.edu	37	10	90122337	90122337	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90122337G>T	ENST00000331772.4	-	5	694	c.672C>A	c.(670-672)gtC>gtA	p.V224V	RNLS_ENST00000371947.3_Silent_p.V224V|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.V141V	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase			7					TATCAATGGAGACGAAGCGTA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000331772.4	1	1	hg19	CCDS31239.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	1	0	1	59	324	0	76	1	9.313522e-01	6	21	0	76	2		0	0	0	0	0	2	1	1	58	318	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPJ	142910	broad.mit.edu	37	10	90356605	90356605	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90356605C>T	ENST00000371939.3	+	8	949	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J			9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)			TTCATTGGTTCAAAGCTGTGT	0.308000																								0							SO:0001583	missense			ENST00000371939.3	1	1	hg19	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895376	0.33442	.	.	ENSG00000204022	ENST00000371939	T	0.64991	-0.13	4.12	3.21	0.36854	Alpha/beta hydrolase fold-1 (1);	1.015460	0.07928	N	0.977014	T	0.50922	0.1644	L	0.31157	0.91	0.09310	N	0.999999	B	0.02656	0.0	B	0.12837	0.008	T	0.36383	-0.9750	10	0.27785	T	0.31	-32.74	11.1249	0.48312	0.0:0.9061:0.0:0.0939	.	212	Q5W064	LIPJ_HUMAN	L	212	ENSP00000361007:S212L	ENSP00000361007:S212L	S	+	2	0	LIPJ	90346585	0.002000	0.14202	0.044000	0.18714	0.241000	0.25554	1.670000	0.37502	1.092000	0.41356	0.585000	0.79938	TCA		TCGA-IB-7651-01A-11D-2154-08	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	1	0	1	106	448	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	104	441	0	123	2								-3.389021	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPF	8513	broad.mit.edu	37	10	90429617	90429617	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90429617A>G	ENST00000238983.4	+	5	492	c.446A>G	c.(445-447)gAc>gGc	p.D149G	LIPF_ENST00000355843.2_Missense_Mutation_p.D126G|LIPF_ENST00000608620.1_Missense_Mutation_p.D116G|LIPF_ENST00000394375.3_Missense_Mutation_p.D159G	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric			13		Colorectal(252;0.0161)		Orlistat(DB01083)	GCTAAATATGACCTTCCAGCC	0.378000																								0							SO:0001583	missense			ENST00000238983.4	1	1	hg19	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395450	0.83011	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.79940	-1.32;-1.32;-1.32	5.07	5.07	0.68467	Alpha/beta hydrolase fold-1 (1);	0.000000	0.64402	D	0.000015	D	0.94627	0.8268	H	0.99794	4.785	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.998;0.997;0.999	D	0.96729	0.9538	10	0.87932	D	0	-31.7369	13.9526	0.64129	1.0:0.0:0.0:0.0	.	116;159;126;149	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	G	159;149;116	ENSP00000377900:D159G;ENSP00000238983:D149G;ENSP00000348101:D116G	ENSP00000238983:D149G	D	+	2	0	LIPF	90419597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.672000	0.91181	2.110000	0.64415	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1	0	0	1	119	519	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1	115	512	0	150	2								-3.176362	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPF	8513	broad.mit.edu	37	10	90433384	90433384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90433384T>G	ENST00000238983.4	+	7	755	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	LIPF_ENST00000355843.2_Missense_Mutation_p.F214V|LIPF_ENST00000608620.1_Missense_Mutation_p.F204V|LIPF_ENST00000394375.3_Missense_Mutation_p.F247V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric			13		Colorectal(252;0.0161)		Orlistat(DB01083)	ACACAACTTCTTTGATCAATT	0.368000																								0							SO:0001583	missense			ENST00000238983.4	1	1	hg19	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913032	0.72983	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.58652	0.32;0.32;0.32	5.17	2.71	0.32032	Alpha/beta hydrolase fold-1 (1);	0.635334	0.14697	N	0.303773	T	0.52869	0.1761	L	0.41824	1.3	0.09310	N	1	B;B;B;P	0.34412	0.018;0.398;0.036;0.453	B;P;B;P	0.46758	0.098;0.495;0.098;0.526	T	0.45220	-0.9276	10	0.31617	T	0.26	-4.4579	4.1726	0.10336	0.1504:0.1639:0.0:0.6857	.	204;247;214;237	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	V	247;237;204	ENSP00000377900:F247V;ENSP00000238983:F237V;ENSP00000348101:F204V	ENSP00000238983:F237V	F	+	1	0	LIPF	90423364	0.027000	0.19231	0.067000	0.19924	0.952000	0.60782	0.731000	0.26058	0.975000	0.38392	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1	1	0	1	145	687	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1	142	682	0	137	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPF	8513	broad.mit.edu	37	10	90438204	90438204	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90438204C>T	ENST00000238983.4	+	10	1009	c.963C>T	c.(961-963)tcC>tcT	p.S321S	LIPF_ENST00000355843.2_Silent_p.S298S|LIPF_ENST00000608620.1_Silent_p.S288S|LIPF_ENST00000394375.3_Silent_p.S331S	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric			13		Colorectal(252;0.0161)		Orlistat(DB01083)	TTTTCTAGTCCCAACCTCCCT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000238983.4	1	1	hg19	CCDS7389.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1	1	0	0	39	889	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	39	873	0	142	2								-2.900743	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.500000	0.360000	1.000000	0.500000	0.547578	0.500000	0	4.200000e-01	6.200000e-01
ANKRD22	118932	broad.mit.edu	37	10	90583062	90583062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90583062C>T	ENST00000371930.4	-	5	683	c.473G>A	c.(472-474)cGt>cAt	p.R158H	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22			10		Colorectal(252;0.0163)			GGGGTCTGCACGGGCTTCCAA	0.463000																								0							SO:0001583	missense			ENST00000371930.4	1	1	hg19	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	9.470	1.095487	0.20471	.	.	ENSG00000152766	ENST00000371930	T	0.53206	0.63	5.57	-3.61	0.04556	Ankyrin repeat-containing domain (4);	0.758317	0.13380	N	0.392249	T	0.28665	0.0710	N	0.17594	0.5	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.10776	-1.0615	10	0.49607	T	0.09	-0.0029	12.4555	0.55702	0.0:0.4531:0.0:0.5469	.	158	Q5VYY1	ANR22_HUMAN	H	158	ENSP00000360998:R158H	ENSP00000360998:R158H	R	-	2	0	ANKRD22	90573042	0.226000	0.23696	0.327000	0.25402	0.421000	0.31385	-0.047000	0.11963	-0.922000	0.03789	-1.044000	0.02363	CGT		TCGA-IB-7651-01A-11D-2154-08	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	1	0	0	21	421	0	79	1	9.757604e-01	3	120	0	79	2		0	0	0	0	0	2	1	9.999971e-01	20	413	0	79	2								-4.414194	1	1	121412	1	33	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.580000	0.360000	1.000000	0.560000	0.615490	0.580000	0	4.600000e-01	7.500000e-01
STAMBPL1	57559	broad.mit.edu	37	10	90673146	90673146	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90673146A>G	ENST00000371926.3	+	6	1667	c.709A>G	c.(709-711)Aat>Gat	p.N237D	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.N237D	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1			11		Colorectal(252;0.0381)			TGATGCAACCAATTATGCTAG	0.453000																								0							SO:0001583	missense			ENST00000371926.3	1	1	hg19	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	A	0.788	-0.759925	0.03019	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.22743	1.96;1.94;1.96;1.95	5.43	4.27	0.50696	.	0.906390	0.09756	N	0.759943	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.29701	-1.0003	10	0.12103	T	0.63	-1.1119	7.3428	0.26646	0.8548:0.0:0.1452:0.0	.	237;237	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	D	237;237;237;71	ENSP00000360994:N237D;ENSP00000360995:N237D;ENSP00000360992:N237D;ENSP00000360990:N71D	ENSP00000360990:N71D	N	+	1	0	STAMBPL1	90663126	0.000000	0.05858	0.166000	0.22797	0.183000	0.23260	0.537000	0.23144	2.189000	0.69895	0.528000	0.53228	AAT		TCGA-IB-7651-01A-11D-2154-08	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	1	0	1	118	450	0	83	1	9.994117e-01	7	37	0	83	2		0	0	0	0	0	2	1	1	117	440	0	82	2								-20.000000	1	1	121406	1	28	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTA2	59	broad.mit.edu	37	10	90699290	90699290	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90699290T>A	ENST00000458208.1	-	7	1256	c.782A>T	c.(781-783)gAg>gTg	p.E261V	ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta			17		Colorectal(252;0.0161)			GAACAGGGTCTCTGGGCAGCG	0.532000																								0							SO:0001583	missense			ENST00000458208.1	1	1	hg19	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990665	0.74589	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.98135	-4.74;-4.74	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99997	5.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97028	0.9748	10	0.87932	D	0	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	261	P62736	ACTA_HUMAN	V	261;261;216	ENSP00000224784:E261V;ENSP00000402373:E261V	ENSP00000224784:E261V	E	-	2	0	ACTA2	90689270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.330000	0.79161	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	1	0	1	83	422	0	125	1	1	3	3807	0	125	2		0	0	0	0	0	2	1	1	81	418	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTA2	59	broad.mit.edu	37	10	90707143	90707143	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90707143C>A	ENST00000458208.1	-	3	604	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Splice_Site_p.G44W|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta			17		Colorectal(252;0.0161)			ACCATCACCCCCTAAAAAGGT	0.453000																								0							SO:0001630	splice_region_variant			ENST00000458208.1	0	1	hg19	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671495	0.67814	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000415557;ENST00000458159	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.57	5.57	0.84162	.	0.129922	0.50627	D	0.000114	D	0.97278	0.9110	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.984	D	0.98512	1.0619	10	0.87932	D	0	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	44;44	B7Z6I1;P62736	.;ACTA_HUMAN	W	44	ENSP00000224784:G44W;ENSP00000402373:G44W;ENSP00000396730:G44W;ENSP00000398239:G44W	ENSP00000224784:G44W	G	-	1	0	ACTA2	90697123	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.606000	0.88127	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	0	0	0	12	521	0	105	0	1	0	3482	0	105	2		0	0	0	0	0	2	1	9.990022e-01	12	509	0	103	2								-2.446525	0	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.280000	0.140000	1.000000	0.270000	0.343570	0.280000	0	2.000000e-01	4.000000e-01
LIPA	3988	broad.mit.edu	37	10	91007366	91007366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91007366G>T	ENST00000336233.5	-	2	362	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	LIPA_ENST00000456827.1_Missense_Mutation_p.L14I|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase			6		Colorectal(252;0.0162)			AGGGTCCAGAGAACCAAACAG	0.378000																								0							SO:0001583	missense			ENST00000336233.5	1	1	hg19	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	G	8.222	0.802607	0.16397	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.77098	-0.46;-0.46;-0.34;-1.07	4.93	3.04	0.35103	.	.	.	.	.	T	0.56093	0.1962	N	0.08118	0	0.20703	N	0.999861	B	0.11235	0.004	B	0.15484	0.013	T	0.41124	-0.9526	9	0.21540	T	0.41	-4.6998	8.0945	0.30820	0.0:0.1734:0.6466:0.18	.	14	P38571	LICH_HUMAN	I	14	ENSP00000337354:L14I;ENSP00000413019:L14I;ENSP00000388415:L14I;ENSP00000282673:L14I	ENSP00000282673:L14I	L	-	1	0	LIPA	90997346	0.932000	0.31603	0.980000	0.43619	0.314000	0.28054	1.957000	0.40392	0.777000	0.33496	0.555000	0.69702	CTC		TCGA-IB-7651-01A-11D-2154-08	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	0	0	1	34	182	1	45	1	9.999958e-01	52	618	1	45	39		0	0	0	0	0	2	1	9.970014e-01	33	176	1	45	16								-3.249846	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
IFIT3	3437	broad.mit.edu	37	10	91098602	91098602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098602G>T	ENST00000371818.4	+	2	370	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	IFIT3_ENST00000371811.4_Missense_Mutation_p.D64Y|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3			15					AAAACACCTAGATGGTAACAA	0.418000																								0							SO:0001583	missense			ENST00000371818.4	0	1	hg19	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	6.674	0.492880	0.12702	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	D;D	0.94046	-3.34;-3.34	4.58	-9.16	0.00694	Tetratricopeptide-like helical (1);	1.696370	0.02698	N	0.111449	D	0.92153	0.7512	L	0.36672	1.1	0.09310	N	1	D	0.55800	0.973	P	0.56163	0.793	D	0.90690	0.4612	10	0.72032	D	0.01	1.3031	10.1446	0.42755	0.4859:0.3721:0.142:0.0	.	64	O14879	IFIT3_HUMAN	Y	64	ENSP00000360883:D64Y;ENSP00000360876:D64Y	ENSP00000360876:D64Y	D	+	1	0	IFIT3	91088582	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.606000	0.05654	-3.526000	0.00147	-0.300000	0.09419	GAT		TCGA-IB-7651-01A-11D-2154-08	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	0	0	0	13	437	0	94	1	9.999702e-01	41	613	0	94	2		0	0	0	0	0	2	1	9.994973e-01	11	432	0	94	2								-3.456160	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.360000	0.190000	1.000000	0.340000	0.415178	0.360000	0	2.600000e-01	5.000000e-01
IFIT3	3437	broad.mit.edu	37	10	91098786	91098786	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098786A>T	ENST00000371818.4	+	2	554	c.374A>T	c.(373-375)aAg>aTg	p.K125M	IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3			15					CAAACCTGCAAGAAATTTTCA	0.428000																								0							SO:0001583	missense			ENST00000371818.4	1	1	hg19	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379661	0.42207	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.76316	-1.01;-1.01	4.71	2.32	0.28847	Tetratricopeptide-like helical (1);	0.814160	0.11368	N	0.571235	T	0.78792	0.4339	L	0.50333	1.59	0.31164	N	0.703982	P	0.41848	0.763	P	0.51974	0.686	T	0.74691	-0.3580	10	0.59425	D	0.04	-0.1749	6.3659	0.21455	0.7797:0.0:0.0794:0.1409	.	125	O14879	IFIT3_HUMAN	M	125	ENSP00000360883:K125M;ENSP00000360876:K125M	ENSP00000360876:K125M	K	+	2	0	IFIT3	91088766	0.864000	0.29904	0.540000	0.28089	0.336000	0.28762	1.583000	0.36579	0.509000	0.28195	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	0	0	1	74	301	1	68	1	1	132	395	1	68	24		0	0	0	0	0	2	1	1	72	295	1	67	18								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFIT1	3434	broad.mit.edu	37	10	91162578	91162578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162578G>A	ENST00000371804.3	+	2	713	c.546G>A	c.(544-546)gcG>gcA	p.A182A	IFIT1_ENST00000546318.1_Silent_p.A151A|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1			15					CTGGGTATGCGATCTCTGCCT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000371804.3	1	1	hg19	CCDS31243.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	1	0	1	203	879	0	184	1	1	140	414	0	184	2		0	0	0	0	0	2	1	1	201	868	0	184	2								-20.000000	1	1	121412	2	40	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFIT1	3434	broad.mit.edu	37	10	91162883	91162883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162883C>T	ENST00000371804.3	+	2	1018	c.851C>T	c.(850-852)tCt>tTt	p.S284F	IFIT1_ENST00000546318.1_Missense_Mutation_p.S253F|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1			15					ACACCCACTTCTGTCTTACTG	0.443000																								0							SO:0001583	missense			ENST00000371804.3	1	1	hg19	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294559	0.60086	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73897	-0.79;-0.79	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.212698	0.40144	N	0.001177	D	0.87095	0.6092	M	0.89095	3.005	0.45899	D	0.998747	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83615	0.0136	10	0.07482	T	0.82	.	19.01	0.92870	0.0:1.0:0.0:0.0	.	284;284	Q5T7J1;P09914	.;IFIT1_HUMAN	F	284;253	ENSP00000360869:S284F;ENSP00000441968:S253F	ENSP00000360869:S284F	S	+	2	0	IFIT1	91152863	0.915000	0.31059	0.095000	0.20976	0.446000	0.32137	3.195000	0.51013	2.791000	0.96007	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	1	0	1	84	428	0	95	1	1	191	497	0	95	2		0	0	0	0	0	2	1	1	83	420	0	95	2								-3.231082	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFIT5	24138	broad.mit.edu	37	10	91177557	91177557	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91177557C>G	ENST00000371795.4	+	2	814	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	IFIT5_ENST00000416601.1_Intron	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5			9					GAGCTTTTCTCTGGGGCCTTT	0.448000																								0							SO:0001583	missense			ENST00000371795.4	1	1	hg19	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835418	0.50951	.	.	ENSG00000152778	ENST00000371795	T	0.48836	0.8	6.03	4.14	0.48551	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.274754	0.36101	N	0.002795	T	0.37571	0.1008	L	0.37507	1.11	0.80722	D	1	P	0.48503	0.911	B	0.43838	0.433	T	0.07539	-1.0767	10	0.31617	T	0.26	-4.439	8.7594	0.34665	0.0:0.7657:0.0:0.2343	.	201	Q13325	IFIT5_HUMAN	V	201	ENSP00000360860:L201V	ENSP00000360860:L201V	L	+	1	2	IFIT5	91167537	0.002000	0.14202	0.985000	0.45067	0.992000	0.81027	-0.242000	0.08928	0.832000	0.34804	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	1	0	1	82	334	0	87	1	1	33	114	0	87	2		0	0	0	0	0	2	1	1	78	328	0	86	2								-3.234985	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC16A12	387700	broad.mit.edu	37	10	91195956	91195956	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91195956A>C	ENST00000341233.4	-	7	1449	c.1059T>G	c.(1057-1059)ttT>ttG	p.F353L	SLC16A12_ENST00000371790.4_Missense_Mutation_p.F383L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12			14					CAAAGTAGCCAAAGGTACAAG	0.502000																								0							SO:0001583	missense			ENST00000341233.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	22.2	4.252196	0.80135	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.11495	2.77;2.77	5.91	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057555	0.64402	D	0.000001	T	0.12987	0.0315	L	0.55017	1.72	0.48395	D	0.999646	P	0.44090	0.826	B	0.42462	0.388	T	0.06110	-1.0845	10	0.28530	T	0.3	.	11.1741	0.48588	0.9288:0.0:0.0712:0.0	.	353	Q6ZSM3	MOT12_HUMAN	L	353;383	ENSP00000343022:F353L;ENSP00000360855:F383L	ENSP00000343022:F353L	F	-	3	2	SLC16A12	91185936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.235000	0.51328	1.062000	0.40625	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	50	189	0	62	0	2.873156e-01	0	5	0	62	2		0	0	0	0	0	2	1	1	50	186	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC16A12	387700	broad.mit.edu	37	10	91203589	91203589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91203589G>A	ENST00000341233.4	-	4	528	c.138C>T	c.(136-138)ttC>ttT	p.F46F	SLC16A12_ENST00000371790.4_Silent_p.F76F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12			14					AGTATGTCTGGAACTCCACAA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000341233.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	31	154	0	42	0	1.399828e-01	0	4	0	42	2		0	0	0	0	0	2	1	1	31	153	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
KIF20B	9585	broad.mit.edu	37	10	91469201	91469201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91469201A>C	ENST00000371728.3	+	4	399	c.334A>C	c.(334-336)Aaa>Caa	p.K112Q	KIF20B_ENST00000416354.1_Missense_Mutation_p.K112Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B			58					GATGGCACAGAAATTCAGTTT	0.373000																								0							SO:0001583	missense			ENST00000371728.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.0	4.077178	0.76415	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.26	5.26	0.73747	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000097	T	0.73125	0.3547	N	0.20766	0.605	0.35744	D	0.818899	P;B	0.42941	0.794;0.03	P;B	0.54372	0.75;0.049	T	0.78295	-0.2259	10	0.35671	T	0.21	-16.5905	15.4672	0.75409	1.0:0.0:0.0:0.0	.	112;112	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	112	ENSP00000260753:K112Q;ENSP00000411545:K112Q;ENSP00000377830:K112Q;ENSP00000360793:K112Q;ENSP00000390946:K112Q	ENSP00000260753:K112Q	K	+	1	0	KIF20B	91459181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.718000	0.68455	2.104000	0.64026	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	1	0	1	118	505	0	89	1	8.060932e-01	8	7	0	89	2		0	0	0	0	0	2	1	1	116	493	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF20B	9585	broad.mit.edu	37	10	91477381	91477381	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91477381G>A	ENST00000371728.3	+	11	1238	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KIF20B_ENST00000416354.1_Silent_p.Q391Q|KIF20B_ENST00000394289.2_Silent_p.Q391Q|KIF20B_ENST00000260753.4_Silent_p.Q391Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B			58					TGAAGACACAGAATGAAGGTG	0.313000																								0							SO:0001819	synonymous_variant			ENST00000371728.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	1	0	0	102	399	0	119	1	9.198267e-01	4	15	0	119	2		0	0	0	0	0	2	1	1	100	394	0	117	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF20B	9585	broad.mit.edu	37	10	91497999	91497999	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91497999C>A	ENST00000371728.3	+	20	3466	c.3401C>A	c.(3400-3402)aCt>aAt	p.T1134N	KIF20B_ENST00000416354.1_Missense_Mutation_p.T1164N|KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B			58					AAAAATGTTACTCTTGATGTT	0.343000																								0							SO:0001583	missense			ENST00000371728.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.022	-1.417123	0.01136	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.65916	-0.12;-0.13;-0.18;-0.12	5.87	-1.76	0.08006	.	1.060770	0.07276	N	0.869932	T	0.22437	0.0541	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11842	-1.0571	10	0.16420	T	0.52	0.8938	1.5837	0.02639	0.3529:0.2265:0.3063:0.1143	.	1134;1094	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	1094;1164;1134;1134	ENSP00000260753:T1094N;ENSP00000411545:T1164N;ENSP00000377830:T1134N;ENSP00000360793:T1134N	ENSP00000260753:T1094N	T	+	2	0	KIF20B	91487979	0.001000	0.12720	0.009000	0.14445	0.003000	0.03518	-0.241000	0.08940	-0.370000	0.08016	-0.940000	0.02684	ACT		TCGA-IB-7651-01A-11D-2154-08	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	0	0	1	48	428	0	105	1	5.584066e-01	2	16	0	105	2		0	0	0	0	0	2	1	1	48	419	0	105	2								-15.871780	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.900000	1.000000	1.000000	0.993925	0.990000	1	9.900000e-01	1
KIF20B	9585	broad.mit.edu	37	10	91498777	91498777	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91498777G>T	ENST00000371728.3	+	21	3904	c.3839G>T	c.(3838-3840)aGg>aTg	p.R1280M	KIF20B_ENST00000416354.1_Missense_Mutation_p.R1310M|KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B			58					GATCTTCAGAGGAAGGAAGAA	0.383000																								0							SO:0001583	missense			ENST00000371728.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.21	3.574020	0.65765	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.80123	-1.23;-1.26;-1.34;-1.27	5.23	2.29	0.28610	.	0.213968	0.32055	N	0.006641	D	0.86285	0.5896	M	0.65498	2.005	0.41534	D	0.988475	D;D	0.89917	0.999;1.0	D;D	0.68943	0.915;0.961	D	0.85586	0.1243	10	0.72032	D	0.01	-4.1044	11.1185	0.48275	0.2074:0.0:0.7926:0.0	.	1280;1240	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	M	1240;1310;1280;1280	ENSP00000260753:R1240M;ENSP00000411545:R1310M;ENSP00000377830:R1280M;ENSP00000360793:R1280M	ENSP00000260753:R1240M	R	+	2	0	KIF20B	91488757	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.769000	0.55303	0.275000	0.22094	0.591000	0.81541	AGG		TCGA-IB-7651-01A-11D-2154-08	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	1	0	1	51	224	0	73	1	5.820885e-01	3	7	0	73	2		0	0	0	0	0	2	1	9.999998e-01	51	221	1	73	14								-3.292951	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR7	3363	broad.mit.edu	37	10	92508676	92508676	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92508676A>G	ENST00000336152.3	-	2	1241	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	HTR7_ENST00000277874.6_Silent_p.N405N|HTR7_ENST00000371721.3_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled			30				Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCGGTTGATATTCCGGTACT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000336152.3	1	1	hg19	CCDS7408.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	1	0	1	101	860	0	167	0	0	0	1	0	167	2		0	0	0	0	0	2	1	1	99	847	0	164	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999610	0.990000	1	9.900000e-01	1
HTR7	3363	broad.mit.edu	37	10	92509222	92509222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92509222C>A	ENST00000336152.3	-	2	695	c.669G>T	c.(667-669)caG>caT	p.Q223H	HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H|HTR7_ENST00000371721.3_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled			30				Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CATTTACATTCTGAGCCCATC	0.483000																								0							SO:0001583	missense			ENST00000336152.3	1	1	hg19	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928757	0.34002	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.056782	0.64402	D	0.000001	T	0.25158	0.0611	L	0.27053	0.805	0.52099	D	0.999947	B;B	0.31209	0.313;0.044	B;B	0.26614	0.071;0.064	T	0.04650	-1.0936	10	0.45353	T	0.12	.	12.026	0.53371	0.0:0.878:0.0:0.122	.	223;223	P34969;P34969-2	5HT7R_HUMAN;.	H	223	ENSP00000337949:Q223H;ENSP00000277874:Q223H;ENSP00000360784:Q223H;ENSP00000360786:Q223H	ENSP00000277874:Q223H	Q	-	3	2	HTR7	92499202	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.716000	0.61916	2.756000	0.94617	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	1	0	1	95	352	0	86	0	4.608760e-02	0	2	0	86	2		0	0	0	0	0	2	1	1	93	345	0	85	2								-3.936680	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPP30	10556	broad.mit.edu	37	10	92655655	92655655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92655655C>T	ENST00000371703.3	+	9	869	c.598C>T	c.(598-600)Cca>Tca	p.P200S	RPP30_ENST00000413330.1_Missense_Mutation_p.P200S|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit			8					AATAAGAGGGCCATATGACGT	0.279000																								0							SO:0001583	missense			ENST00000371703.3	1	1	hg19	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387205	0.82902	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.57436	0.4;0.42;0.53	5.79	5.79	0.91817	Polymerase/histidinol phosphatase-like (1);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.986;0.994	T	0.77245	-0.2659	10	0.66056	D	0.02	-19.3429	18.8041	0.92029	0.0:1.0:0.0:0.0	.	200;200	P78346;E9PB02	RPP30_HUMAN;.	S	200;200;190;222;144	ENSP00000360768:P200S;ENSP00000389182:P200S;ENSP00000277882:P222S	ENSP00000277882:P222S	P	+	1	0	RPP30	92645635	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	5.882000	0.69714	2.732000	0.93576	0.557000	0.71058	CCA		TCGA-IB-7651-01A-11D-2154-08	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	1	0	1	33	279	0	71	1	9.999972e-01	26	143	0	71	2		0	0	0	0	0	2	1	1	31	275	0	70	2								-3.075758	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.890000	1.000000	1.000000	0.993503	0.990000	1	9.900000e-01	1
ANKRD1	27063	broad.mit.edu	37	10	92675933	92675933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92675933C>T	ENST00000371697.3	-	6	894	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	p.D216Y(1)		27		Colorectal(252;0.0475)			AATACCTTATCTCGGGCGCTA	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000371697.3	1	1	hg19	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970762	0.92919	.	.	ENSG00000148677	ENST00000371697	T	0.57107	0.42	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.53780	1.695	0.80722	D	1	P	0.50710	0.938	D	0.64237	0.923	T	0.64550	-0.6381	10	0.37606	T	0.19	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	216	Q15327	ANKR1_HUMAN	N	216	ENSP00000360762:D216N	ENSP00000360762:D216N	D	-	1	0	ANKRD1	92665913	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	GAT		TCGA-IB-7651-01A-11D-2154-08	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	1	0	0	40	179	0	50	0	9.175962e-02	0	3	0	50	2		0	0	0	0	0	2	1	1	40	176	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCGF5	84333	broad.mit.edu	37	10	93011074	93011074	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011074G>A	ENST00000336126.5	+	6	583	c.351G>A	c.(349-351)ccG>ccA	p.P117P	PCGF5_ENST00000543648.1_Silent_p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5			12					CTGACAAACCGAAAGTAGATG	0.299000													Colon(178;732 2696 46441 50370)											0							SO:0001819	synonymous_variant			ENST00000336126.5	1	1	hg19	CCDS7413.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	1	0	1	31	168	0	43	1	9.999969e-01	19	94	0	43	2		0	0	0	0	0	2	1	1	30	165	0	42	2								-20.000000	1	0	121370	4	37	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
PCGF5	84333	broad.mit.edu	37	10	93011174	93011174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011174C>T	ENST00000336126.5	+	6	683	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5			12					AAATAATGGGCAATCAGGGGA	0.323000													Colon(178;732 2696 46441 50370)											0							SO:0001587	stop_gained			ENST00000336126.5	0	1	hg19	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	C	39	7.802879	0.98498	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	.	.	.	6.06	6.06	0.98353	.	0.112587	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-17.7437	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000337500:Q151X	Q	+	1	0	PCGF5	93001154	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	7.174000	0.77620	2.880000	0.98712	0.650000	0.86243	CAA		TCGA-IB-7651-01A-11D-2154-08	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	1	0	1	67	327	0	92	1	9.999998e-01	10	103	0	92	2		0	0	0	0	0	2	1	1	65	318	0	92	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECTD2	143279	broad.mit.edu	37	10	93244323	93244323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93244323G>A	ENST00000298068.5	+	9	975	c.881G>A	c.(880-882)cGc>cAc	p.R294H	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.R298H	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2			27					ATTTCTTTACGCCTGTTTCCT	0.368000													NSCLC(12;376 469 1699 39910 41417)											0							SO:0001583	missense			ENST00000298068.5	1	1	hg19	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776438	0.70107	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.39229	1.12;1.09	5.97	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.63957	0.794;0.92	T	0.71471	-0.4583	10	0.36615	T	0.2	.	17.2064	0.86920	0.0:0.1261:0.8739:0.0	.	298;294	E7ERR3;Q5U5R9	.;HECD2_HUMAN	H	298;20;294	ENSP00000401023:R298H;ENSP00000298068:R294H	ENSP00000298068:R294H	R	+	2	0	HECTD2	93234303	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.069000	0.93967	1.508000	0.48769	-0.274000	0.10170	CGC		TCGA-IB-7651-01A-11D-2154-08	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1	1	0	1	47	340	0	57	1	4.864700e-01	3	10	0	57	2		0	0	0	0	0	2	1	1	44	333	0	57	2								-3.318805	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999718	0.990000	1	9.900000e-01	1
HECTD2	143279	broad.mit.edu	37	10	93256087	93256087	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93256087C>T	ENST00000298068.5	+	15	1732	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000536715.1_Silent_p.G135G|HECTD2_ENST00000446394.1_Silent_p.G550G	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2			27					TACCAGTAGGCATCTGCAATG	0.363000													NSCLC(12;376 469 1699 39910 41417)											0							SO:0001819	synonymous_variant			ENST00000298068.5	0	1	hg19	CCDS7414.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1	0	0	1	33	262	1	57	0	4.820445e-01	1	13	1	57	2		0	0	0	0	0	2	1	9.927633e-01	33	257	1	55	17								-13.399410	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.940000	1.000000	1.000000	0.996730	0.990000	1	9.900000e-01	1
TNKS2	80351	broad.mit.edu	37	10	93608274	93608274	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608274C>A	ENST00000371627.4	+	19	2872	c.2493C>A	c.(2491-2493)agC>agA	p.S831R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2			48		Colorectal(252;0.162)			GTCCATCTAGCCCATCAAGCC	0.507000																								0							SO:0001583	missense			ENST00000371627.4	0	1	hg19	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479147	0.44044	.	.	ENSG00000107854	ENST00000371627	T	0.65549	-0.16	5.79	2.56	0.30785	.	0.000000	0.64402	D	0.000001	T	0.50240	0.1604	L	0.44542	1.39	0.44677	D	0.997668	B	0.33413	0.411	B	0.32465	0.146	T	0.50030	-0.8875	10	0.72032	D	0.01	.	8.1326	0.31035	0.0:0.5625:0.0:0.4375	.	831	Q9H2K2	TNKS2_HUMAN	R	831	ENSP00000360689:S831R	ENSP00000360689:S831R	S	+	3	2	TNKS2	93598254	0.937000	0.31787	1.000000	0.80357	0.986000	0.74619	0.049000	0.14099	0.586000	0.29626	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	0	0	0	9	479	0	89	1	8.490494e-01	6	178	0	89	2		0	0	0	0	0	2	1	9.935574e-01	9	466	0	89	2								-3.178014	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.230000	0.110000	1.000000	0.210000	0.301332	0.230000	0	1.600000e-01	3.500000e-01
TNKS2	80351	broad.mit.edu	37	10	93608297	93608297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608297G>A	ENST00000371627.4	+	19	2895	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2			48		Colorectal(252;0.162)			TCTGCAGCCAGCAGTCTTGAC	0.488000																								0							SO:0001583	missense			ENST00000371627.4	1	1	hg19	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052890	0.75960	.	.	ENSG00000107854	ENST00000371627	T	0.64991	-0.13	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.53249	1.67	0.45914	D	0.998755	P	0.45348	0.856	B	0.38562	0.276	T	0.55915	-0.8065	10	0.16420	T	0.52	.	20.0155	0.97477	0.0:0.0:1.0:0.0	.	839	Q9H2K2	TNKS2_HUMAN	N	839	ENSP00000360689:S839N	ENSP00000360689:S839N	S	+	2	0	TNKS2	93598277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.742000	0.94016	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	0	0	1	77	414	1	91	1	9.987270e-01	20	94	1	91	7		0	0	0	0	0	2	1	1	75	404	1	91	18								-20.000000	1	0	121412	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTAF1	9044	broad.mit.edu	37	10	93695422	93695422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93695422G>A	ENST00000265990.6	+	2	331	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	p.R8H(1)		59		Colorectal(252;0.0846)			AGGCTAGATCGCCTTTTTATT	0.378000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000265990.6	1	1	hg19	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241089	0.95272	.	.	ENSG00000095564	ENST00000265990	T	0.66280	-0.2	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87125	0.2193	10	0.87932	D	0	0.8706	18.9257	0.92544	0.0:0.0:1.0:0.0	.	8	O14981	BTAF1_HUMAN	H	8	ENSP00000265990:R8H	ENSP00000265990:R8H	R	+	2	0	BTAF1	93685402	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.757000	0.98924	2.537000	0.85549	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1	62	201	0	67	1	4.358886e-01	3	3	0	67	2		0	0	0	0	0	2	1	1	60	198	0	67	2								-20.000000	1	1	121410	1	35	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTAF1	9044	broad.mit.edu	37	10	93711250	93711250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93711250G>A	ENST00000265990.6	+	5	799	c.491G>A	c.(490-492)aGt>aAt	p.S164N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa			59		Colorectal(252;0.0846)			ATTGGAATGAGTACTGAAGAA	0.373000																								0							SO:0001583	missense			ENST00000265990.6	1	1	hg19	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346355	0.11126	.	.	ENSG00000095564	ENST00000265990	D	0.89746	-2.56	5.13	3.98	0.46160	Armadillo-type fold (1);	0.094082	0.64402	D	0.000001	T	0.67373	0.2886	N	0.02751	-0.505	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64424	-0.6411	10	0.02654	T	1	0.5674	6.7274	0.23365	0.2115:0.0:0.7885:0.0	.	164	O14981	BTAF1_HUMAN	N	164	ENSP00000265990:S164N	ENSP00000265990:S164N	S	+	2	0	BTAF1	93701230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.401000	0.59716	2.563000	0.86464	0.591000	0.81541	AGT		TCGA-IB-7651-01A-11D-2154-08	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1	59	494	0	96	1	9.274226e-01	6	33	0	96	2		0	0	0	0	0	2	1	1	58	485	0	96	2								-19.618460	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.980000	1.000000	1.000000	0.998468	0.990000	1	9.900000e-01	1
BTAF1	9044	broad.mit.edu	37	10	93713536	93713536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93713536G>T	ENST00000265990.6	+	6	915	c.607G>T	c.(607-609)Gga>Tga	p.G203*		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa			59		Colorectal(252;0.0846)			GTTTCGAGCAGGAATGAGCAA	0.363000																								0							SO:0001587	stop_gained			ENST00000265990.6	0	1	hg19	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	40	8.164873	0.98686	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-20.5445	19.7205	0.96142	0.0:0.0:1.0:0.0	.	.	.	.	X	203	.	ENSP00000265990:G203X	G	+	1	0	BTAF1	93703516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.723000	0.93209	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1	141	513	0	114	1	9.999513e-01	11	43	0	114	2		0	0	0	0	0	2	1	1	139	508	0	112	2								-4.038319	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTAF1	9044	broad.mit.edu	37	10	93768637	93768637	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93768637C>T	ENST00000265990.6	+	27	4173	c.3865C>T	c.(3865-3867)Ctg>Ttg	p.L1289L	BTAF1_ENST00000544642.1_Silent_p.L117L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa			59		Colorectal(252;0.0846)			TCATGGAATTCTGTGTGATGA	0.299000																								0							SO:0001819	synonymous_variant			ENST00000265990.6	1	1	hg19	CCDS7419.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1	56	228	0	43	1	9.997414e-01	12	41	0	43	2		0	0	0	0	0	2	1	1	54	227	0	43	2								-3.502867	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPEB3	22849	broad.mit.edu	37	10	93999697	93999697	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93999697C>A	ENST00000265997.4	-	2	583	c.411G>T	c.(409-411)caG>caT	p.Q137H	CPEB3_ENST00000412050.4_Missense_Mutation_p.Q137H	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3			18		Colorectal(252;0.0869)			GCGGGAAGTTCTGGAAGAGCA	0.662000																								0							SO:0001583	missense			ENST00000265997.4	0	1	hg19	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711382	0.30322	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.51817	0.7;0.69	3.68	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.64830	0.99;0.99;0.994	D;D;D	0.75484	0.969;0.969;0.986	T	0.55192	-0.8179	10	0.72032	D	0.01	-5.7008	10.0365	0.42131	0.0:0.8987:0.0:0.1013	.	137;137;137	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	H	137	ENSP00000398310:Q137H;ENSP00000265997:Q137H	ENSP00000265997:Q137H	Q	-	3	2	CPEB3	93989677	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.637000	0.61346	0.741000	0.32674	0.313000	0.20887	CAG		TCGA-IB-7651-01A-11D-2154-08	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	1	0	0	10	110	0	15	0	0	1	0	0	15	2		0	0	0	0	0	2	1	9.972819e-01	10	110	0	15	2								-15.299860	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.530000	1.000000	1.000000	0.906721	0.990000	1	7.400000e-01	1
KIF11	3832	broad.mit.edu	37	10	94373174	94373174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94373174C>T	ENST00000260731.3	+	8	920	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11			29					CGTTCTGGAGCTGTTGATAAG	0.378000													Colon(47;212 1003 2764 4062 8431)											0							SO:0001583	missense			ENST00000260731.3	1	1	hg19	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395280	0.96009	.	.	ENSG00000138160	ENST00000260731	D	0.86164	-2.08	5.82	5.82	0.92795	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92655	0.6136	10	0.72032	D	0.01	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	277	P52732	KIF11_HUMAN	V	277	ENSP00000260731:A277V	ENSP00000260731:A277V	A	+	2	0	KIF11	94363154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.849000	0.69465	2.745000	0.94114	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	1	0	0	34	155	0	32	1	7.087103e-01	3	10	0	32	2		0	0	0	0	0	2	1	1	33	152	0	31	2								-19.763650	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KIF11	3832	broad.mit.edu	37	10	94381182	94381182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94381182C>A	ENST00000260731.3	+	10	1259	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11			29					CGAGATCTTGCTGCAGCCCGT	0.378000													Colon(47;212 1003 2764 4062 8431)											0							SO:0001583	missense			ENST00000260731.3	1	1	hg19	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147649	0.77888	.	.	ENSG00000138160	ENST00000260731	T	0.73897	-0.79	5.0	5.0	0.66597	.	0.125717	0.52532	D	0.000064	T	0.81288	0.4791	L	0.60455	1.87	0.54753	D	0.999985	D	0.76494	0.999	D	0.68621	0.959	T	0.78250	-0.2277	10	0.25751	T	0.34	.	12.7613	0.57365	0.0:0.9203:0.0:0.0797	.	390	P52732	KIF11_HUMAN	D	390	ENSP00000260731:A390D	ENSP00000260731:A390D	A	+	2	0	KIF11	94371162	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.545000	0.67237	2.320000	0.78422	0.485000	0.47835	GCT		TCGA-IB-7651-01A-11D-2154-08	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	1	0	0	29	384	0	73	1	4.251906e-01	3	17	0	73	2		0	0	0	0	0	2	1	1	28	378	0	73	2								-7.960336	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.850000	0.570000	1.000000	1.000000	0.847722	0.850000	1	7.000000e-01	1
HHEX	3087	broad.mit.edu	37	10	94452255	94452255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94452255G>A	ENST00000282728.5	+	2	2291	c.492G>A	c.(490-492)ccG>ccA	p.P164P	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox			10					ATCTCTCTCCGCCCGAGAGGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000282728.5	1	1	hg19	CCDS7423.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2	1	0	1	54	258	0	69	1	1	42	89	0	69	2		0	0	0	0	0	2	1	1	53	252	0	69	2								-3.200769	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP26A1	1592	broad.mit.edu	37	10	94834670	94834670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94834670C>T	ENST00000224356.4	+	3	594	c.549C>T	c.(547-549)cgC>cgT	p.R183R	CYP26A1_ENST00000394139.1_Silent_p.R114R|CYP26A1_ENST00000371531.1_Silent_p.R114R	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1			16		Colorectal(252;0.122)		Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	AGGTGAAGCGCCTCATGTTCC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000224356.4	1	1	hg19	CCDS7426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3	1	0	1	92	414	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1	92	407	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP26A1	1592	broad.mit.edu	37	10	94836365	94836365	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94836365A>G	ENST00000224356.4	+	6	1109	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C|CYP26A1_ENST00000371531.1_Missense_Mutation_p.Y286C	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1			16		Colorectal(252;0.122)		Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CAACTTAAATACATCGGGTGT	0.383000																								0							SO:0001583	missense			ENST00000224356.4	1	1	hg19	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535437	0.64972	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.76186	-1.0;-1.0;-1.0	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92221	0.5784	10	0.87932	D	0	-17.7244	15.3318	0.74219	1.0:0.0:0.0:0.0	.	286;355	B3KNI4;O43174	.;CP26A_HUMAN	C	286;355;286	ENSP00000360586:Y286C;ENSP00000224356:Y355C;ENSP00000377695:Y286C	ENSP00000224356:Y355C	Y	+	2	0	CYP26A1	94826355	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	8.578000	0.90777	2.214000	0.71695	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3	1	0	1	73	369	0	97	0	0	1	0	0	97	2		0	0	0	0	0	2	1	1	72	362	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYOF	26509	broad.mit.edu	37	10	95082866	95082866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95082866C>T	ENST00000359263.4	-	48	5424	c.5425G>A	c.(5425-5427)Gga>Aga	p.G1809R	MYOF_ENST00000371501.4_Missense_Mutation_p.G1809R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R|MYOF_ENST00000485212.1_5'Flank|MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin			67					ATTTCCTCTCCTGTGATGCTT	0.443000																								0							SO:0001583	missense			ENST00000359263.4	1	1	hg19	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346743	0.95807	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-1.89	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047975	0.85682	N	0.000000	D	0.94466	0.8219	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94138	0.7394	10	0.51188	T	0.08	-18.5395	19.2909	0.94098	0.0:1.0:0.0:0.0	.	1796;1809	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1796;1809;1809;1799	ENSP00000351094:G1796R;ENSP00000352208:G1809R;ENSP00000360556:G1809R;ENSP00000360557:G1799R	ENSP00000351094:G1796R	G	-	1	0	MYOF	95072856	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.651000	0.83577	2.797000	0.96272	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	1	0	1	126	767	0	183	1	1	171	385	0	183	2		0	0	0	0	0	2	1	1	119	753	0	182	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBP4	5950	broad.mit.edu	37	10	95353719	95353719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353719G>A	ENST00000371467.1	-	5	748	c.429C>T	c.(427-429)ctC>ctT	p.L143L	RBP4_ENST00000371469.2_Silent_p.L141L|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Silent_p.L143L			P02753	RET4_HUMAN	retinol binding protein 4, plasma			5		Colorectal(252;0.122)		Vitamin A(DB00162)	AGGTGCCATCGAGGTTCAGGA	0.597000													Pancreas(5;160 256 1117 46697 50185)											0							SO:0001819	synonymous_variant			ENST00000371467.1	1	1	hg19	CCDS31249.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	1	0	1	115	540	0	108	1	1	6	180	0	108	2		0	0	0	0	0	2	1	1	110	527	0	106	2								-2.948176	1	0	121412	4	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBP4	5950	broad.mit.edu	37	10	95353756	95353756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353756G>A	ENST00000371467.1	-	5	711	c.392C>T	c.(391-393)aCg>aTg	p.T131M	RBP4_ENST00000371469.2_Missense_Mutation_p.T129M|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M			P02753	RET4_HUMAN	retinol binding protein 4, plasma			5		Colorectal(252;0.122)		Vitamin A(DB00162)	CACGGCATACGTGTCGTAGTC	0.582000													Pancreas(5;160 256 1117 46697 50185)											0							SO:0001583	missense			ENST00000371467.1	1	1	hg19	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480046	0.84747	.	.	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	D;D	0.83250	-1.7;-1.7	5.82	5.82	0.92795	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.044055	0.85682	D	0.000000	D	0.90352	0.6981	M	0.67953	2.075	0.53005	D	0.999966	D	0.89917	1.0	D	0.66497	0.944	D	0.90539	0.4501	10	0.87932	D	0	-28.7418	20.0851	0.97797	0.0:0.0:1.0:0.0	.	131	P02753	RET4_HUMAN	M	131;129;131;129	ENSP00000360519:T131M;ENSP00000360522:T131M	ENSP00000360518:T129M	T	-	2	0	RBP4	95343746	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	5.843000	0.69424	2.743000	0.94032	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	0	0	0	88	417	1	72	0	9.999629e-01	2	150	1	72	9		0	0	0	0	0	2	1	1	86	412	1	72	22								-20.000000	1	0	121412	6	40	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE6C	5146	broad.mit.edu	37	10	95396763	95396763	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95396763G>T	ENST00000371447.3	+	11	1563	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime			42		Colorectal(252;0.123)		Caffeine(DB00201)	AATTTCAAGAGAAGTTAAATG	0.308000																								0							SO:0001583	missense			ENST00000371447.3	1	1	hg19	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904077	0.33628	.	.	ENSG00000095464	ENST00000371447	T	0.65549	-0.16	5.0	0.877	0.19145	.	0.047002	0.85682	D	0.000000	T	0.50394	0.1613	L	0.54965	1.715	0.48975	D	0.999737	B	0.15719	0.014	B	0.16289	0.015	T	0.41840	-0.9486	10	0.44086	T	0.13	.	6.0976	0.20028	0.2834:0.0:0.5933:0.1234	.	475	P51160	PDE6C_HUMAN	D	475	ENSP00000360502:E475D	ENSP00000360502:E475D	E	+	3	2	PDE6C	95386753	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.304000	0.33482	0.398000	0.25338	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	1	0	1	19	102	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999943e-01	19	101	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999585	0.990000	1	9.900000e-01	1
PLCE1	51196	broad.mit.edu	37	10	96018655	96018655	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96018655T>C	ENST00000371380.3	+	11	3888	c.3653T>C	c.(3652-3654)tTt>tCt	p.F1218S	PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1218S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1			8		Colorectal(252;0.0458)			TTTGTTGAATTTGTTGAGCTG	0.428000																								0							SO:0001583	missense			ENST00000371380.3	1	1	hg19	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760881	0.89932	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.62723	1.935	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.84312	0.0511	10	0.87932	D	0	.	15.8373	0.78808	0.0:0.0:0.0:1.0	.	1202;910;1218	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1218;1218;910;910	ENSP00000260766:F1218S;ENSP00000360431:F1218S;ENSP00000360438:F910S;ENSP00000360426:F910S	ENSP00000260766:F1218S	F	+	2	0	PLCE1	96008645	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.622000	0.83099	2.203000	0.70933	0.454000	0.30748	TTT		TCGA-IB-7651-01A-11D-2154-08	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1	98	438	0	77	0	1.573684e-01	0	4	0	77	2		0	0	0	0	0	2	1	1	98	425	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCE1	51196	broad.mit.edu	37	10	96022269	96022269	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022269T>G	ENST00000371380.3	+	13	4068	c.3833T>G	c.(3832-3834)gTc>gGc	p.V1278G	PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G|PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000260766.3_Missense_Mutation_p.V1278G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1			8		Colorectal(252;0.0458)			ACCAGAAATGTCTCGGATTTG	0.433000																								0							SO:0001583	missense			ENST00000371380.3	1	1	hg19	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209914	0.39003	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25414	1.8;1.8;1.83;1.83	5.91	5.91	0.95273	.	0.073163	0.56097	D	0.000034	T	0.13500	0.0327	N	0.03115	-0.41	0.58432	D	0.999999	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.11329	0.003;0.006;0.002	T	0.16305	-1.0407	10	0.22706	T	0.39	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	1262;970;1278	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	G	1278;1278;970;970	ENSP00000260766:V1278G;ENSP00000360431:V1278G;ENSP00000360438:V970G;ENSP00000360426:V970G	ENSP00000260766:V1278G	V	+	2	0	PLCE1	96012259	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.211000	0.72182	2.261000	0.74972	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	0	0	1	168	741	1	147	0	5.776897e-01	1	9	1	147	2		0	0	0	0	0	2	1	1	167	724	1	147	20								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCE1	51196	broad.mit.edu	37	10	96022417	96022417	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022417T>C	ENST00000371380.3	+	13	4216	c.3981T>C	c.(3979-3981)ctT>ctC	p.L1327L	PLCE1_ENST00000371385.3_Silent_p.L1019L|PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000260766.3_Silent_p.L1327L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1			8		Colorectal(252;0.0458)			TGGGCATACTTCAGCTCAACG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000371380.3	1	1	hg19	CCDS41552.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1	134	620	0	151	1	4.949293e-01	2	7	0	151	2		0	0	0	0	0	2	1	1	131	606	0	150	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCE1	51196	broad.mit.edu	37	10	96044717	96044717	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96044717T>C	ENST00000371380.3	+	21	5265	c.5030T>C	c.(5029-5031)tTt>tCt	p.F1677S	PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.F1677S|PLCE1-AS1_ENST00000596633.1_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1			8		Colorectal(252;0.0458)			GCAGTAAAATTTCCAGGTAAG	0.318000																								0							SO:0001583	missense			ENST00000371380.3	1	1	hg19	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730133	0.89390	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.255913	0.39083	N	0.001465	T	0.63438	0.2511	L	0.34521	1.04	0.54753	D	0.999987	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.997	T	0.65817	-0.6076	10	0.59425	D	0.04	.	15.6241	0.76840	0.0:0.0:0.0:1.0	.	1661;1369;1677	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	S	1677;1677;1369;1369	ENSP00000260766:F1677S;ENSP00000360431:F1677S;ENSP00000360438:F1369S;ENSP00000360426:F1369S	ENSP00000260766:F1677S	F	+	2	0	PLCE1	96034707	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.953000	0.87836	2.178000	0.69098	0.454000	0.30748	TTT		TCGA-IB-7651-01A-11D-2154-08	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1	47	175	0	48	1	9.149463e-01	2	16	0	48	2		0	0	0	0	0	2	1	1	47	174	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCE1	51196	broad.mit.edu	37	10	96076504	96076504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96076504C>T	ENST00000371380.3	+	28	6568	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000371385.3_Silent_p.T1803T|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000260766.3_Silent_p.T2111T|NOC3L_ENST00000543788.1_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1			8		Colorectal(252;0.0458)			TCTTAAAAACCCAGCAGGAAG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000371380.3	1	1	hg19	CCDS41552.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1	28	138	0	39	1	8.047097e-01	5	12	0	39	2		0	0	0	0	0	2	1	1	28	135	0	37	2								-2.701789	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
NOC3L	64318	broad.mit.edu	37	10	96100033	96100033	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96100033C>A	ENST00000371361.3	-	16	1880	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	NOC3L_ENST00000371350.1_Splice_Site_p.G594C|NOC3L_ENST00000543788.1_Splice_Site_p.G332C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)			29		Colorectal(252;0.0897)			ACATACATACCTGCATGTAAT	0.299000																								0							SO:0001630	splice_region_variant			ENST00000371361.3	1	0	hg19	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344627	0.82022	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.30981	1.98;1.51;1.51	5.19	5.19	0.71726	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57734	-0.7760	9	.	.	.	-12.8635	19.0883	0.93215	0.0:1.0:0.0:0.0	.	594	Q8WTT2	NOC3L_HUMAN	C	332;594;594	ENSP00000437838:G332C;ENSP00000360412:G594C;ENSP00000360401:G594C	.	G	-	1	0	NOC3L	96090023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.626000	0.67777	2.596000	0.87737	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	1	0	1	31	172	0	57	1	9.973123e-01	10	44	0	57	2		0	0	0	0	0	2	1	1	31	168	0	57	2								-2.796245	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
NOC3L	64318	broad.mit.edu	37	10	96117060	96117060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96117060G>A	ENST00000371361.3	-	4	479	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)			29		Colorectal(252;0.0897)			ATGCGTTCATGCTTCCGTTTC	0.348000																								0							SO:0001583	missense			ENST00000371361.3	1	1	hg19	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.064960	0.01934	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.11821	2.74;2.74	5.16	0.841	0.18918	.	0.807371	0.12019	N	0.507107	T	0.06826	0.0174	N	0.08118	0	0.21627	N	0.999615	B	0.19935	0.04	B	0.34779	0.189	T	0.48937	-0.8990	10	0.07813	T	0.8	-9.2634	6.2289	0.20724	0.1392:0.0:0.5021:0.3587	.	127	Q8WTT2	NOC3L_HUMAN	Y	127	ENSP00000360412:H127Y;ENSP00000360401:H127Y	ENSP00000360401:H127Y	H	-	1	0	NOC3L	96107050	0.975000	0.34042	0.895000	0.35142	0.422000	0.31414	1.859000	0.39418	0.260000	0.21731	0.655000	0.94253	CAT		TCGA-IB-7651-01A-11D-2154-08	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	1	0	1	58	195	0	42	1	9.654838e-01	5	16	0	42	2		0	0	0	0	0	2	1	1	58	195	0	42	2								-20.000000	1	1	121410	1	28	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D12	23232	broad.mit.edu	37	10	96291155	96291155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96291155G>A	ENST00000225235.4	+	12	2307	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12			20		Colorectal(252;0.0429)			TATCACATCGGAAAAGCTGTT	0.358000																								0							SO:0001583	missense			ENST00000225235.4	1	1	hg19	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426670	0.83667	.	.	ENSG00000108239	ENST00000225235	T	0.24151	1.87	5.31	5.31	0.75309	Rab-GAP/TBC domain (1);	0.166270	0.53938	D	0.000047	T	0.37919	0.1021	L	0.61218	1.895	0.53005	D	0.999969	P	0.50943	0.94	P	0.49140	0.601	T	0.14476	-1.0471	10	0.62326	D	0.03	-9.8376	16.527	0.84333	0.0:0.0:1.0:0.0	.	733	O60347	TBC12_HUMAN	K	733	ENSP00000225235:E733K	ENSP00000225235:E733K	E	+	1	0	TBC1D12	96281145	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.199000	0.51043	2.768000	0.95171	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2	0	0	1	97	413	0	100	1	9.686172e-01	2	24	0	100	2		0	0	0	0	0	2	1	1	95	401	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HELLS	3070	broad.mit.edu	37	10	96351995	96351995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96351995G>T	ENST00000348459.5	+	16	1882	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific			22		Colorectal(252;0.0429)			GATCGATGAAGAATTGGTAAC	0.343000																								0							SO:0001587	stop_gained			ENST00000348459.5	0	1	hg19	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127452	0.94473	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	.	.	.	5.45	5.45	0.79879	.	0.160191	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.9214	18.2637	0.90044	0.0:0.0:1.0:0.0	.	.	.	.	X	593;495;639;30	.	ENSP00000239027:E593X	E	+	1	0	HELLS	96341985	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	3.534000	0.53568	2.550000	0.86006	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	1	0	0	45	203	0	53	0	7.109655e-01	0	13	0	53	2		0	0	0	0	0	2	1	1	45	197	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2C18	1562	broad.mit.edu	37	10	96447959	96447959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96447959G>T	ENST00000285979.6	+	3	608	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18			26		Colorectal(252;0.09)		Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTTTGGGATGGGGAAGAGGAG	0.478000																								0							SO:0001583	missense			ENST00000285979.6	1	1	hg19	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	18.84	3.708896	0.68615	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.71461	-0.57;-0.57	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	D	0.89118	0.6624	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92789	0.6247	10	0.87932	D	0	.	14.9723	0.71243	0.0:0.0:1.0:0.0	.	137;137	Q4VAT5;P33260	.;CP2CI_HUMAN	W	137	ENSP00000341293:G137W;ENSP00000285979:G137W	ENSP00000285979:G137W	G	+	1	0	CYP2C18	96437949	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	8.658000	0.91110	2.105000	0.64084	0.306000	0.20318	GGG		TCGA-IB-7651-01A-11D-2154-08	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	1	0	1	88	384	0	97	1	9.999989e-01	45	43	0	97	2		0	0	0	0	0	2	1	1	87	377	0	96	2								-2.550646	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2C18	1562	broad.mit.edu	37	10	96484190	96484190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96484190C>A	ENST00000285979.6	+	7	1248	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18			26		Colorectal(252;0.09)		Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TACACAGATGCTGTGGTGCAC	0.498000																								0							SO:0001583	missense			ENST00000285979.6	1	1	hg19	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	16.43	3.121808	0.56613	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.73258	-0.73;-0.73	4.15	4.15	0.48705	.	0.000000	0.85682	U	0.000000	D	0.90981	0.7164	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.943	D	0.94486	0.7697	10	0.87932	D	0	.	13.9702	0.64235	0.0:1.0:0.0:0.0	.	291;350	Q4VAT5;P33260	.;CP2CI_HUMAN	D	291;350	ENSP00000341293:A291D;ENSP00000285979:A350D	ENSP00000285979:A350D	A	+	2	0	CYP2C18	96474180	1.000000	0.71417	0.078000	0.20375	0.093000	0.18481	5.162000	0.64942	2.115000	0.64714	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	1	0	1	128	541	0	171	1	1	45	58	0	171	2		0	0	0	0	0	2	1	1	128	529	0	169	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2C18	1562	broad.mit.edu	37	10	96493196	96493196	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96493196G>A	ENST00000285979.6	+	8	1490		c.e8+1		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18			26		Colorectal(252;0.09)		Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTCTCAGCAGGTAATAGATAT	0.438000																								0							SO:0001630	splice_region_variant			ENST00000285979.6	0	1	hg19	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405243	0.25378	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.05	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3368	0.38056	0.1076:0.0:0.8924:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2C18	96483186	1.000000	0.71417	0.995000	0.50966	0.163000	0.22366	8.335000	0.90031	0.886000	0.36113	0.455000	0.32223	.		TCGA-IB-7651-01A-11D-2154-08	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	0	0	1	110	385	1	103	0	5.002777e-02	0	2	1	103	2		0	0	0	0	0	2	1	1	108	378	1	103	17								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2C9	1559	broad.mit.edu	37	10	96707611	96707611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96707611G>A	ENST00000260682.6	+	4	569	c.557G>A	c.(556-558)cGt>cAt	p.R186H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9			34		Colorectal(252;0.0902)		Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCCATAAACGTTTTGATTAT	0.373000													Ovarian(54;1266 1406 16072 35076)											0							SO:0001583	missense			ENST00000260682.6	1	1	hg19	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.100572	0.56183	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.14022	2.54	3.55	3.55	0.40652	.	0.000000	0.64402	U	0.000001	T	0.21468	0.0517	M	0.86864	2.845	0.39244	D	0.963903	P;P	0.49447	0.924;0.924	B;B	0.40228	0.323;0.323	T	0.36187	-0.9758	10	0.46703	T	0.11	.	12.9549	0.58421	0.0:0.0:1.0:0.0	.	186;186	Q5VX92;P11712	.;CP2C9_HUMAN	H	186	ENSP00000260682:R186H	ENSP00000260682:R186H	R	+	2	0	CYP2C9	96697601	1.000000	0.71417	0.742000	0.31022	0.906000	0.53458	4.197000	0.58413	1.955000	0.56771	0.491000	0.48974	CGT		TCGA-IB-7651-01A-11D-2154-08	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	1	0	0	65	615	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	65	602	0	97	2								-18.661030	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.890000	1.000000	1.000000	0.991826	0.990000	1	9.900000e-01	1
SORBS1	10580	broad.mit.edu	37	10	97096906	97096906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97096906G>A	ENST00000361941.3	-	28	3037	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1004I|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1			42		Colorectal(252;0.0429)			CAAGGGTGGGGTCAGGGCCAG	0.637000																								0							SO:0001583	missense			ENST00000361941.3	1	1	hg19	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653179	0.88056	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.10668	2.87;2.85;2.87	5.58	5.58	0.84498	.	0.000000	0.43579	D	0.000555	T	0.20170	0.0485	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.13818	-1.0495	10	0.17832	T	0.49	-13.6303	19.5597	0.95367	0.0:0.0:1.0:0.0	.	958;1004	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	I	1004;958;1004	ENSP00000360293:T1004I;ENSP00000360271:T958I;ENSP00000355136:T1004I	ENSP00000355136:T1004I	T	-	2	0	SORBS1	97086896	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.188000	0.94921	2.641000	0.89580	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1	1	0	0	21	218	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.999974e-01	20	212	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.680000	1.000000	1.000000	0.948044	0.990000	1	8.500000e-01	1
ALDH18A1	5832	broad.mit.edu	37	10	97397085	97397085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97397085G>A	ENST00000371224.2	-	4	549	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1			28		Colorectal(252;0.0402)			AGGGCCTGCCGCACGCTCTGA	0.552000																								0							SO:0001583	missense			ENST00000371224.2	1	1	hg19	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052093	0.75960	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.79454	-1.27;-1.27	5.6	1.25	0.21368	Aspartate/glutamate/uridylate kinase (3);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88794	0.3280	10	0.87932	D	0	-18.3088	13.2574	0.60087	0.0:0.0:0.4611:0.5389	.	138;138	P54886;P54886-2	P5CS_HUMAN;.	W	138	ENSP00000360268:R138W;ENSP00000360265:R138W	ENSP00000360265:R138W	R	-	1	2	ALDH18A1	97387075	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.162000	0.31786	0.261000	0.21753	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	1	0	1	77	363	0	91	1	1	56	136	0	91	2		0	0	0	0	0	2	1	1	77	358	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCTN3	26123	broad.mit.edu	37	10	97440291	97440291	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97440291G>T	ENST00000371217.5	-	13	1551	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	TCTN3_ENST00000430368.2_Missense_Mutation_p.L362M|TCTN3_ENST00000265993.9_Missense_Mutation_p.L528M			Q6NUS6	TECT3_HUMAN	tectonic family member 3			15		Colorectal(252;0.0815)			GGGTTGGACAGGAGACCTACA	0.463000																								0							SO:0001583	missense			ENST00000371217.5	0	1	hg19	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910012	0.52439	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.85861	-2.04	5.57	4.66	0.58398	.	1.096970	0.06730	N	0.776530	D	0.89649	0.6776	M	0.73598	2.24	0.24577	N	0.993896	P;P;P	0.46621	0.836;0.8;0.881	P;B;P	0.53185	0.572;0.347;0.72	T	0.78157	-0.2313	10	0.33940	T	0.23	-37.034	10.7357	0.46124	0.0896:0.0:0.9104:0.0	.	362;510;332	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	M	510;362;528;332	ENSP00000265993:L510M	ENSP00000265993:L510M	L	-	1	2	TCTN3	97430281	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	2.974000	0.49272	2.640000	0.89533	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	0	0	0	17	839	0	192	1	9.684227e-01	4	278	0	192	2		0	0	0	0	0	2	1	9.999599e-01	17	827	0	192	2								-2.140929	0	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.240000	0.140000	1.000000	0.230000	0.308431	0.240000	0	1.800000e-01	3.300000e-01
CCNJ	54619	broad.mit.edu	37	10	97817750	97817750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97817750C>T	ENST00000265992.5	+	6	1238	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C|CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J			11					ACTGCAGTATCGCCATCCTAC	0.498000																								0							SO:0001583	missense			ENST00000265992.5	1	1	hg19	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230083	0.39399	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.46063	0.88;1.47;0.88	5.5	5.5	0.81552	.	0.284824	0.39687	N	0.001287	T	0.24392	0.0591	N	0.08118	0	0.45284	D	0.998287	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.05419	-1.0886	10	0.39692	T	0.17	-12.6063	12.6537	0.56776	0.0:0.92:0.0:0.08	.	302;290;291	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	C	291;302;290;291	ENSP00000265992:R291C;ENSP00000384498:R290C;ENSP00000441415:R291C	ENSP00000265992:R291C	R	+	1	0	CCNJ	97807740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.381000	0.44336	2.744000	0.94065	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	1	0	1	148	571	0	137	1	9.980121e-01	5	33	0	137	2		0	0	0	0	0	2	1	1	146	547	0	136	2								-3.794100	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF518A	9849	broad.mit.edu	37	10	97916210	97916210	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97916210C>T	ENST00000534948.1	+	0	988							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A			24		Colorectal(252;0.0815)			ATTCATTATGCACTAAAAAAT	0.269000																								0											ENST00000534948.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	41	164	0	47	1	8.297499e-01	4	11	0	47	2		0	0	0	0	0	2	1	1	39	161	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BLNK	29760	broad.mit.edu	37	10	97967627	97967627	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97967627C>T	ENST00000224337.5	-	10	916		c.e10+1		BLNK_ENST00000427367.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000413476.2_Splice_Site	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker			14		Colorectal(252;0.083)			AATTAACTTACTGTCTTCAGT	0.328000																								0							SO:0001630	splice_region_variant			ENST00000224337.5	1	1	hg19	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743713	0.69418	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4791	0.75511	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BLNK	97957617	0.998000	0.40836	0.973000	0.42090	0.936000	0.57629	3.494000	0.53273	2.809000	0.96659	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	1	0	1	63	280	0	69	1	9.129196e-02	3	0	0	69	2		0	0	0	0	0	2	1	1	63	274	0	69	2								-3.340819	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNTT	1791	broad.mit.edu	37	10	98064324	98064324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064324G>A	ENST00000371174.2	+	1	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	DNTT_ENST00000419175.1_Missense_Mutation_p.A24T|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase			27		Colorectal(252;0.0815)|all_hematologic(284;0.224)			TGCCTTGATGGCCTCCTCTCC	0.577000																								0							SO:0001583	missense			ENST00000371174.2	1	1	hg19	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408741	0.25378	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11712	2.75;2.75	5.76	0.955	0.19602	.	0.981743	0.08379	N	0.954821	T	0.11024	0.0269	M	0.66939	2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40117	-0.9580	10	0.25106	T	0.35	-4.0979	2.978	0.05943	0.0949:0.13:0.2973:0.4778	.	24;24	P04053-2;P04053	.;TDT_HUMAN	T	24	ENSP00000401169:A24T;ENSP00000360216:A24T	ENSP00000360216:A24T	A	+	1	0	DNTT	98054314	0.005000	0.15991	0.048000	0.18961	0.138000	0.21146	0.775000	0.26689	0.688000	0.31529	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	1	0	1	68	286	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	68	284	0	61	2								-20.000000	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNTT	1791	broad.mit.edu	37	10	98064345	98064345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064345A>G	ENST00000371174.2	+	1	193	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	DNTT_ENST00000419175.1_Missense_Mutation_p.K31E|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase			27		Colorectal(252;0.0815)|all_hematologic(284;0.224)			TCAAGACATCAAATTTCAAGA	0.557000																								0							SO:0001583	missense			ENST00000371174.2	0	1	hg19	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701265	0.68501	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.79454	-1.27;-1.27	5.76	3.36	0.38483	BRCT (3);	0.154687	0.53938	D	0.000041	D	0.82995	0.5158	M	0.76328	2.33	0.33866	D	0.634366	P;P	0.35944	0.473;0.529	P;P	0.49528	0.48;0.614	D	0.86221	0.1631	10	0.56958	D	0.05	-11.3577	11.2234	0.48869	0.7369:0.2631:0.0:0.0	.	31;31	P04053-2;P04053	.;TDT_HUMAN	E	31	ENSP00000401169:K31E;ENSP00000360216:K31E	ENSP00000360216:K31E	K	+	1	0	DNTT	98054335	1.000000	0.71417	0.835000	0.33067	0.673000	0.39480	2.387000	0.44389	0.422000	0.26005	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	0	0	0	6	302	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.631965e-01	6	296	0	60	2								-7.440831	1	0	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.250000	0.100000	1.000000	0.230000	0.323433	0.250000	0	1.600000e-01	4.100000e-01
OPALIN	93377	broad.mit.edu	37	10	98105750	98105750	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98105750A>G	ENST00000371172.3	-	6	779	c.374T>C	c.(373-375)aTg>aCg	p.M125T	OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T|OPALIN_ENST00000419479.1_Missense_Mutation_p.M115T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	p.M115T(1)|p.M125T(1)		9					CCTTCTTTCCATTTCTATAGT	0.517000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000371172.3	1	1	hg19	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276167	0.23307	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	0.291	0.15732	.	0.846034	0.10440	N	0.674364	T	0.27169	0.0666	L	0.32530	0.975	0.09310	N	1	B;B;B	0.27732	0.187;0.11;0.001	B;B;B	0.22601	0.04;0.04;0.001	T	0.24512	-1.0158	9	0.72032	D	0.01	-1.154	3.7161	0.08438	0.6011:0.1903:0.2086:0.0	.	102;125;115	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	T	125;102;115;114;115	.	ENSP00000360214:M125T	M	-	2	0	OPALIN	98095740	0.009000	0.17119	0.089000	0.20774	0.896000	0.52359	-0.209000	0.09358	-0.045000	0.13468	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	1	0	1	137	520	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1	135	513	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLL2	7093	broad.mit.edu	37	10	98182405	98182405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98182405C>T	ENST00000357947.3	-	6	943	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2			58		Colorectal(252;0.0846)			TCGTGAGCCACAATGCCAAAC	0.547000																								0							SO:0001583	missense			ENST00000357947.3	1	1	hg19	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286272	0.95517	.	.	ENSG00000095587	ENST00000357947	T	0.68331	-0.32	5.64	5.64	0.86602	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.41097	D	0.000949	D	0.85159	0.5633	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86596	0.1863	10	0.54805	T	0.06	.	18.6895	0.91578	0.0:1.0:0.0:0.0	.	240	Q9Y6L7	TLL2_HUMAN	M	240	ENSP00000350630:V240M	ENSP00000350630:V240M	V	-	1	0	TLL2	98172395	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.768000	0.85345	2.657000	0.90304	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1	0	0	0	15	381	0	59	0	9.671288e-03	0	4	0	59	2		0	0	0	0	0	2	1	9.998332e-01	15	365	0	58	2								-15.070540	1	1	121412	1	31	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.470000	0.260000	1.000000	0.440000	0.514146	0.470000	0	3.500000e-01	6.400000e-01
TLL2	7093	broad.mit.edu	37	10	98188430	98188430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98188430G>A	ENST00000357947.3	-	5	821	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2			58		Colorectal(252;0.0846)			TTCCTCATCCGTCCTTTCTAT	0.493000																								0							SO:0001583	missense			ENST00000357947.3	1	1	hg19	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148195	0.78001	.	.	ENSG00000095587	ENST00000357947	T	0.66099	-0.19	5.67	5.67	0.87782	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.45126	D	0.000396	T	0.70666	0.3250	M	0.79343	2.45	0.80722	D	1	P	0.49358	0.923	P	0.45881	0.496	T	0.75587	-0.3266	10	0.66056	D	0.02	.	18.8134	0.92068	0.0:0.0:1.0:0.0	.	199	Q9Y6L7	TLL2_HUMAN	M	199	ENSP00000350630:T199M	ENSP00000350630:T199M	T	-	2	0	TLL2	98178420	1.000000	0.71417	0.960000	0.40013	0.621000	0.37620	7.856000	0.86956	2.676000	0.91093	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1	1	0	1	54	316	0	63	1	4.461406e-01	4	6	0	63	2		0	0	0	0	0	2	1	1	51	310	0	62	2								-19.999980	1	1	121412	5	39	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TM9SF3	56889	broad.mit.edu	37	10	98325081	98325081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98325081A>G	ENST00000371142.4	-	3	617	c.401T>C	c.(400-402)aTa>aCa	p.I134T		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3			15		Colorectal(252;0.158)			TAAATCATCTATGTACATCTG	0.308000																								0							SO:0001583	missense			ENST00000371142.4	1	1	hg19	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605645	0.87157	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.50548	0.74;0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.93978	3.48	0.80722	D	1	D	0.53462	0.96	P	0.57244	0.816	T	0.80957	-0.1150	10	0.72032	D	0.01	-19.9242	15.3	0.73940	1.0:0.0:0.0:0.0	.	134	Q9HD45	TM9S3_HUMAN	T	134;90	ENSP00000360184:I134T;ENSP00000401152:I90T	ENSP00000360184:I134T	I	-	2	0	TM9SF3	98315071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.921000	0.92784	2.201000	0.70794	0.460000	0.39030	ATA		TCGA-IB-7651-01A-11D-2154-08	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	1	0	0	22	399	0	123	1	1	54	589	0	123	2		0	0	0	0	0	2	1	9.999986e-01	22	393	0	123	2								-19.999790	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.630000	0.400000	1.000000	0.610000	0.666964	0.630000	0	5.100000e-01	8.200000e-01
PIK3AP1	118788	broad.mit.edu	37	10	98376418	98376418	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98376418C>T	ENST00000339364.5	-	13	2111	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371109.3_Silent_p.K263K|PIK3AP1_ENST00000371110.2_Silent_p.K486K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1			52		Colorectal(252;0.0442)			CTGATTTTTGCTTCTCTCTCT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000339364.5	1	1	hg19	CCDS31259.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	1	0	0	115	603	0	96	1	1	80	255	0	96	2		0	0	0	0	0	2	1	1	114	597	0	94	2								-20.000000	1	1	121412	1	26	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3AP1	118788	broad.mit.edu	37	10	98405355	98405355	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98405355G>T	ENST00000339364.5	-	8	1369	c.1250C>A	c.(1249-1251)gCt>gAt	p.A417D	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1			52		Colorectal(252;0.0442)			CTCGTACACAGCATCAGCCTC	0.552000																								0							SO:0001583	missense			ENST00000339364.5	1	1	hg19	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679631	0.00751	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.15372	3.1;2.43	5.81	1.62	0.23740	.	0.570773	0.20462	N	0.091861	T	0.06917	0.0176	N	0.04508	-0.205	0.18873	N	0.999987	B	0.06786	0.001	B	0.09377	0.004	T	0.39251	-0.9623	10	0.02654	T	1	-1.1317	14.6981	0.69136	0.0:0.0:0.4863:0.5137	.	417	Q6ZUJ8	BCAP_HUMAN	D	417;239	ENSP00000339826:A417D;ENSP00000360151:A239D	ENSP00000339826:A417D	A	-	2	0	PIK3AP1	98395345	0.137000	0.22531	0.004000	0.12327	0.275000	0.26752	2.701000	0.47094	0.025000	0.15241	-0.169000	0.13324	GCT		TCGA-IB-7651-01A-11D-2154-08	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	1	0	1	59	310	1	91	1	9.999995e-01	64	201	1	91	12		0	0	0	0	0	2	1	1	59	304	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf12	26148	broad.mit.edu	37	10	98741161	98741161	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741161C>A	ENST00000286067.2	+	1	121	c.14C>A	c.(13-15)gCt>gAt	p.A5D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12			45		Colorectal(252;0.172)			CAGAGTTCAGCTTTAGTAGAA	0.393000																								0							SO:0001583	missense			ENST00000286067.2	1	1	hg19	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008834	0.35415	.	.	ENSG00000155640	ENST00000286067	T	0.16196	2.36	5.85	5.85	0.93711	.	0.000000	0.44097	D	0.000497	T	0.29850	0.0746	L	0.34521	1.04	0.35268	D	0.780209	D	0.76494	0.999	D	0.68192	0.956	T	0.22521	-1.0214	10	0.72032	D	0.01	-5.4603	13.3765	0.60741	0.0:0.9282:0.0:0.0718	.	5	Q8N655	CJ012_HUMAN	D	5	ENSP00000286067:A5D	ENSP00000286067:A5D	A	+	2	0	C10orf12	98731151	0.993000	0.37304	0.994000	0.49952	0.065000	0.16274	2.805000	0.47939	2.775000	0.95449	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	1	0	1	35	255	0	53	0	7.811230e-02	0	4	0	53	2		0	0	0	0	0	2	1	1	32	252	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999039	0.990000	1	9.900000e-01	1
C10orf12	26148	broad.mit.edu	37	10	98741860	98741860	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741860T>G	ENST00000286067.2	+	1	820	c.713T>G	c.(712-714)aTt>aGt	p.I238S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12			45		Colorectal(252;0.172)			ACCCTTACAATTCCAGCCCCT	0.493000																								0							SO:0001583	missense			ENST00000286067.2	1	1	hg19	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	1.659	-0.512042	0.04200	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09445	2.98	6.05	1.03	0.20045	.	1.722310	0.03331	N	0.193415	T	0.08626	0.0214	N	0.19112	0.55	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21708	0.022;0.036	T	0.36648	-0.9739	10	0.62326	D	0.03	0.665	5.4761	0.16695	0.0:0.2189:0.1337:0.6474	.	72;238	A0PJI9;Q8N655	.;CJ012_HUMAN	S	238;72	ENSP00000286067:I238S	ENSP00000286067:I238S	I	+	2	0	C10orf12	98731850	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.066000	0.12998	-0.274000	0.10170	ATT		TCGA-IB-7651-01A-11D-2154-08	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	1	0	1	96	403	0	113	1	4.051899e-01	3	4	0	113	2		0	0	0	0	0	2	1	1	95	397	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C10orf12	26148	broad.mit.edu	37	10	98744054	98744054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98744054C>T	ENST00000286067.2	+	1	3014	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12			45		Colorectal(252;0.172)			TCAGCCCCGGCCCTAATTCTG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000286067.2	1	1	hg19	CCDS7452.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	1	0	1	112	535	0	134	1	5.387353e-01	2	8	0	134	2		0	0	0	0	0	2	1	1	110	527	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT1	6585	broad.mit.edu	37	10	98760969	98760969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98760969C>T	ENST00000266058.4	-	37	4750	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)			78		Colorectal(252;0.162)			CCGCTTCAGCCGAAGGCCCTG	0.647000																								0							SO:0001583	missense			ENST00000266058.4	1	1	hg19	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.689858|4.689858	0.88735|0.88735	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187122|ENSG00000187122	ENST00000371070|ENST00000266058	T|D	0.80824|0.82081	-1.42|-1.57	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Cystine knot, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90041|0.90041	0.6890|0.6890	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.89950|0.89950	0.4079|0.4079	7|10	0.87932|0.48119	D|T	0|0.1	.|.	18.0843|18.0843	0.89453|0.89453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1502	.|O75093	.|SLIT1_HUMAN	S|Q	1461|1502	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	ENSP00000360109:G1461S|ENSP00000266058:R1502Q	G|R	-|-	1|2	0|0	SLIT1|SLIT1	98750959|98750959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.809000|5.809000	0.69172|0.69172	2.498000|2.498000	0.84270|0.84270	0.561000|0.561000	0.74099|0.74099	GGC|CGG		TCGA-IB-7651-01A-11D-2154-08	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1	159	695	0	149	0	1.614229e-01	0	4	0	149	2		0	0	0	0	0	2	1	1	158	689	0	148	2								-3.043778	1	1	121404	2	38	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT1	6585	broad.mit.edu	37	10	98808726	98808726	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98808726T>G	ENST00000266058.4	-	14	1696	c.1451A>C	c.(1450-1452)aAg>aCg	p.K484T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)			78		Colorectal(252;0.162)			GCACCGGAACTTCTTGCTCTT	0.652000																								0							SO:0001583	missense			ENST00000266058.4	1	1	hg19	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628289	0.87560	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;T	0.81739	-1.53;-1.52;0.71	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.81914	0.941;0.995	D	0.88106	0.2822	10	0.87932	D	0	.	15.1227	0.72457	0.0:0.0:0.0:1.0	.	494;484	E7EWQ8;O75093	.;SLIT1_HUMAN	T	484;494;484;477	ENSP00000266058:K484T;ENSP00000360109:K484T;ENSP00000315005:K477T	ENSP00000266058:K484T	K	-	2	0	SLIT1	98798716	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.151000	0.67156	0.455000	0.32223	AAG		TCGA-IB-7651-01A-11D-2154-08	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1	112	520	0	90	0	3.199781e-02	1	1	0	90	2		0	0	0	0	0	2	1	1	110	509	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT1	6585	broad.mit.edu	37	10	98816148	98816148	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98816148A>G	ENST00000266058.4	-	13	1476	c.1231T>C	c.(1231-1233)Tcc>Ccc	p.S411P	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)			78		Colorectal(252;0.162)			TCATACAGGGAGAGCAGTGAG	0.582000																								0							SO:0001583	missense			ENST00000266058.4	1	1	hg19	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	a	28.3	4.904775	0.92035	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.54279	1.76;1.76;0.58	5.09	5.09	0.68999	.	0.057785	0.64402	D	0.000001	T	0.76615	0.4012	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82024	-0.0662	10	0.87932	D	0	.	15.0201	0.71624	1.0:0.0:0.0:0.0	.	421;411	E7EWQ8;O75093	.;SLIT1_HUMAN	P	411;421;411;404	ENSP00000266058:S411P;ENSP00000360109:S411P;ENSP00000315005:S404P	ENSP00000266058:S411P	S	-	1	0	SLIT1	98806138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.080000	0.94040	2.129000	0.65627	0.454000	0.30748	TCC		TCGA-IB-7651-01A-11D-2154-08	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1	127	640	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	1	127	625	0	146	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I|SLIT1_ENST00000371070.4_Silent_p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)			78		Colorectal(252;0.162)			TGAAGAGCCCGATGGTTGGCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000266058.4	1	1	hg19	CCDS7453.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1	31	121	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	1	31	116	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP19	84986	broad.mit.edu	37	10	98989630	98989630	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98989630C>T	ENST00000358531.4	-	10	1314	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.R400Q|ARHGAP19_ENST00000371027.1_Splice_Site_p.R420Q|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.R429Q|ARHGAP19_ENST00000355366.5_Splice_Site_p.R420Q|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.R429Q	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19			13		Colorectal(252;0.0854)			CAGGACCTTCCGCTGATTTAA	0.383000																								0							SO:0001630	splice_region_variant			ENST00000358531.4	1	0	hg19	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592825	0.86953	0.0	1.16E-4	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.16897	2.65;2.69;2.72;2.69;2.72;2.31	5.46	4.55	0.56014	.	0.000000	0.64402	U	0.000001	T	0.30696	0.0773	M	0.64997	1.995	0.43857	D	0.996459	D;D;D	0.76494	0.994;0.995;0.999	P;P;P	0.57152	0.653;0.56;0.814	T	0.03514	-1.1029	10	0.72032	D	0.01	-1.2313	9.9455	0.41607	0.0:0.9063:0.0:0.0937	.	400;429;420	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	Q	429;429;420;429;420;248;400	ENSP00000414774:R429Q;ENSP00000324468:R429Q;ENSP00000347526:R420Q;ENSP00000351333:R429Q;ENSP00000360066:R420Q;ENSP00000351058:R400Q	ENSP00000324468:R429Q	R	-	2	0	ARHGAP19	98979620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.373000	0.44266	1.288000	0.44600	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	1	0	0	82	393	0	73	0	7.590210e-01	1	14	0	73	2		0	0	0	0	0	2	1	1	81	387	0	72	2								-2.630564	1	1	121410	2	37	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGAM1	5223	broad.mit.edu	37	10	99190716	99190716	+	Missense_Mutation	SNP	G	G	A	rs138208659	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99190716G>A	ENST00000334828.5	+	3	567	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)			6		Colorectal(252;0.162)			GCTTAGGATCGCAGGTATGCA	0.428000																								0							SO:0001583	missense			ENST00000334828.5	1	1	hg19	CCDS7458.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.44	2.535006	0.45073	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.80214	-1.35	5.13	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	M	0.78637	2.42	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.17979	0.02;0.003	T	0.80476	-0.1366	10	0.62326	D	0.03	-0.6606	18.928	0.92553	0.0:0.0:1.0:0.0	.	125;140	B4DKL5;P18669	.;PGAM1_HUMAN	H	140;30	ENSP00000359991:R140H	ENSP00000359991:R140H	R	+	2	0	PGAM1	99180706	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	9.622000	0.98378	2.549000	0.85964	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	1	0	1	51	266	0	58	1	1	122	1110	0	58	2		0	0	0	0	0	2	1	1	50	260	0	62	2								-3.240601	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMS19	64210	broad.mit.edu	37	10	99236652	99236652	+	Missense_Mutation	SNP	G	G	A	rs143513996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99236652G>A	ENST00000438925.2	-	7	897	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	MMS19_ENST00000327238.10_Missense_Mutation_p.R188C|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)			16		Colorectal(252;0.0846)			AGAAGATTACGGGGATCCTTT	0.488000								Direct reversal of damage																0							SO:0001583	missense			ENST00000438925.2	1	1	hg19	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430733	0.96150	2.27E-4	0.0	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000437002;ENST00000422685	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75777	-0.3198	10	0.87932	D	0	.	19.4839	0.95022	0.0:0.0:1.0:0.0	.	188;188	Q96T76-5;Q96T76	.;MMS19_HUMAN	C	188;188;188;167;188;227	ENSP00000412698:R188C;ENSP00000359818:R188C;ENSP00000320059:R188C;ENSP00000409425:R188C;ENSP00000391765:R227C	ENSP00000320059:R188C	R	-	1	0	MMS19	99226642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.423000	0.73361	2.611000	0.88343	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2	1	0	1	58	247	0	84	1	9.999028e-01	13	48	0	84	2		0	0	0	0	0	2	1	1	57	241	0	82	2								-2.455778	0	1	121412	29	47	1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBTD1	80019	broad.mit.edu	37	10	99327681	99327681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99327681G>A	ENST00000370664.3	+	2	417	c.81G>A	c.(79-81)gaG>gaA	p.E27E		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1			7		Colorectal(252;0.162)			GACGCAATGAGCCCCTGAAGA	0.617000													Pancreas(100;169 2668 32720)											0							SO:0001819	synonymous_variant			ENST00000370664.3	1	1	hg19	CCDS7465.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	1	0	0	61	268	0	52	1	9.989937e-01	7	41	0	52	2		0	0	0	0	0	2	1	1	61	262	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBTD1	80019	broad.mit.edu	37	10	99330200	99330200	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99330200A>G	ENST00000370664.3	+	3	940	c.604A>G	c.(604-606)Aca>Gca	p.T202A	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000298808.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1			7		Colorectal(252;0.162)			CACAGACCGCACACGGCTCCA	0.627000													Pancreas(100;169 2668 32720)											0							SO:0001583	missense			ENST00000370664.3	1	1	hg19	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692848	0.30052	.	.	ENSG00000165886	ENST00000370664	T	0.74421	-0.84	5.73	5.73	0.89815	Ubiquitin supergroup (1);Ubiquitin (2);	0.143055	0.64402	D	0.000006	T	0.70456	0.3226	L	0.42245	1.32	0.38786	D	0.954884	P	0.44986	0.847	P	0.46510	0.519	T	0.68262	-0.5455	10	0.08381	T	0.77	-5.7565	16.0082	0.80377	1.0:0.0:0.0:0.0	.	202	Q9HAC8	UBTD1_HUMAN	A	202	ENSP00000359698:T202A	ENSP00000359698:T202A	T	+	1	0	UBTD1	99320190	1.000000	0.71417	0.949000	0.38748	0.004000	0.04260	7.576000	0.82467	2.324000	0.78689	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	1	0	1	70	313	0	68	1	9.999997e-01	18	82	0	68	2		0	0	0	0	0	2	1	1	69	309	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PI4K2A	55361	broad.mit.edu	37	10	99422666	99422666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99422666C>T	ENST00000370631.3	+	5	982	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha			12		Colorectal(252;0.162)			GTTCACAGATCGAGGCAATGA	0.388000																								0							SO:0001587	stop_gained			ENST00000370631.3	0	1	hg19	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	39	7.404835	0.98262	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	.	.	.	5.41	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8168	13.9095	0.63857	0.2602:0.7398:0.0:0.0	.	.	.	.	X	279;309;279	.	ENSP00000359665:R309X	R	+	1	2	PI4K2A;RP11-548K23.11	99412656	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.043000	0.30316	2.700000	0.92200	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	1	0	1	66	339	0	122	0	9.999549e-01	0	77	0	122	2		0	0	0	0	0	2	1	1	64	335	0	121	2								-3.235886	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PI4K2A	55361	broad.mit.edu	37	10	99433364	99433364	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99433364A>C	ENST00000370631.3	+	9	1362	c.1305A>C	c.(1303-1305)aaA>aaC	p.K435N	PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N|PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha			12		Colorectal(252;0.162)			AGGCCTTGAAAGACAACAAGA	0.542000																								0							SO:0001583	missense			ENST00000370631.3	1	1	hg19	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196353	0.58126	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77098	-1.07;-1.07;-1.07	5.23	2.91	0.33838	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.111374	0.64402	D	0.000011	D	0.83691	0.5309	M	0.76838	2.35	0.51012	D	0.999903	P;P;B	0.50617	0.937;0.937;0.169	P;P;B	0.59221	0.854;0.854;0.178	T	0.82438	-0.0457	10	0.72032	D	0.01	-8.1753	7.9555	0.30040	0.7768:0.0:0.2232:0.0	.	405;405;435	E9PAM4;B4DEP8;Q9BTU6	.;.;P4K2A_HUMAN	N	405;435;405	ENSP00000452243:K405N;ENSP00000359665:K435N;ENSP00000359683:K405N	ENSP00000359665:K435N	K	+	3	2	PI4K2A;RP11-548K23.11	99423354	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	0.394000	0.20834	0.455000	0.26910	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	1	0	1	126	472	0	123	1	9.999993e-01	3	74	0	123	2		0	0	0	0	0	2	1	1	121	460	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGA7B	401647	broad.mit.edu	37	10	99624000	99624000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99624000G>T	ENST00000370602.1	+	4	432	c.367G>T	c.(367-369)Gac>Tac	p.D123Y		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B			5					CCTACTTACAGACCCTGTGGA	0.527000																								0							SO:0001583	missense			ENST00000370602.1	1	1	hg19	CCDS31265.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363960	0.61513	.	.	ENSG00000155265	ENST00000370602	.	.	.	5.31	5.31	0.75309	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85953	0.1465	9	0.72032	D	0.01	-58.8523	17.9131	0.88940	0.0:0.0:1.0:0.0	.	123	Q2TAP0	GOG7B_HUMAN	Y	123	.	ENSP00000359634:D123Y	D	+	1	0	GOLGA7B	99613990	1.000000	0.71417	0.950000	0.38849	0.038000	0.13279	9.601000	0.98297	2.779000	0.95612	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	1	0	0	16	243	0	55	0	2.320192e-01	1	13	0	55	2		0	0	0	0	0	2	1	9.999311e-01	16	238	0	55	2								-19.259150	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.760000	0.440000	1.000000	1.000000	0.769541	0.760000	0	5.800000e-01	1
CRTAC1	55118	broad.mit.edu	37	10	99667810	99667810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99667810G>A	ENST00000370597.3	-	6	1165	c.810C>T	c.(808-810)aaC>aaT	p.N270N	CRTAC1_ENST00000370591.2_Silent_p.N270N|CRTAC1_ENST00000298819.4_Silent_p.N270N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1			35		Colorectal(252;0.24)			CATCGCCCCGGTTGTGGAAAA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000370597.3	1	1	hg19	CCDS31266.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	1	0	0	14	244	0	39	0	3.100840e-02	1	4	0	39	2		0	0	0	0	0	2	1	9.997585e-01	14	241	0	39	2								-16.815820	1	1	0	0		1	1	2	3	2.008551	0	0.170000	2.060000	1.769955e-01	0.670000	0.380000	1.000000	1.000000	0.695748	0.670000	0	5.000000e-01	9.100000e-01
SBF2	81846	broad.mit.edu	37	11	10051375	10051375	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10051375G>A	ENST00000256190.8	-	5	587	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2			48					TTTCCAAGGAGACATTCAGGC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000256190.8	1	1	hg19	CCDS31427.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	1	0	1	242	1080	0	317	1	9.986240e-01	5	40	0	317	2		0	0	0	0	0	2	1	1	235	1053	0	314	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SBF2	81846	broad.mit.edu	37	11	10064430	10064430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10064430G>A	ENST00000256190.8	-	3	377	c.240C>T	c.(238-240)tgC>tgT	p.C80C	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2			48					TTAGGCATGAGCAGTAATGTC	0.443000																								0							SO:0001819	synonymous_variant			ENST00000256190.8	1	1	hg19	CCDS31427.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	0	0	0	67	295	0	85	1	9.955782e-01	5	34	0	85	2		0	0	0	0	0	2	1	1	64	294	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP2A2	161	broad.mit.edu	37	11	1006544	1006544	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1006544T>G	ENST00000448903.2	+	17	2364	c.2223T>G	c.(2221-2223)ttT>ttG	p.F741L	AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit			21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			TGTTTATCTTTTATGGTAATA	0.423000																								0							SO:0001583	missense			ENST00000448903.2	1	1	hg19	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867997	0.72065	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.46063	0.88;0.88	4.35	-0.505	0.11993	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.88241	2.94	0.58432	D	0.999999	D;D	0.63880	0.992;0.993	D;D	0.74348	0.971;0.983	T	0.62886	-0.6759	10	0.46703	T	0.11	-9.1951	9.2983	0.37829	0.0:0.5228:0.0:0.4772	.	742;741	O94973-2;O94973	.;AP2A2_HUMAN	L	741;742;478;481	ENSP00000413234:F741L;ENSP00000327694:F742L	ENSP00000327694:F742L	F	+	3	2	AP2A2	996544	0.961000	0.32948	0.999000	0.59377	0.984000	0.73092	0.084000	0.14891	-0.004000	0.14419	0.523000	0.50628	TTT		TCGA-IB-7651-01A-11D-2154-08	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	1	0	1	79	335	0	77	1	1	24	135	0	77	2		0	0	0	0	0	2	1	1	78	326	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGR	5241	broad.mit.edu	37	11	100996859	100996859	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100996859T>G	ENST00000325455.5	-	2	3121	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	PGR_ENST00000263463.5_Missense_Mutation_p.Q556H|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor			36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CGAAGCTGTATTGTGGGCTCT	0.418000													Pancreas(124;2271 2354 21954 22882)											0							SO:0001583	missense			ENST00000325455.5	1	1	hg19	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917796	0.33815	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09817	2.94;2.94	5.55	2.2	0.27929	.	0.108809	0.41001	D	0.000978	T	0.25606	0.0623	M	0.64404	1.975	0.30183	N	0.800201	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.958	T	0.03374	-1.1043	10	0.62326	D	0.03	.	9.024	0.36218	0.0:0.6891:0.0:0.3109	.	556;556	Q8TDS3;P06401	.;PRGR_HUMAN	H	556	ENSP00000325120:Q556H;ENSP00000263463:Q556H	ENSP00000263463:Q556H	Q	-	3	2	PGR	100502069	0.794000	0.28838	1.000000	0.80357	0.042000	0.13812	0.195000	0.17155	0.652000	0.30806	-0.248000	0.11899	CAA		TCGA-IB-7651-01A-11D-2154-08	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	1	0	1	42	129	0	39	0	4.609883e-01	0	6	0	39	2		0	0	0	0	0	2	1	1	41	129	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGR	5241	broad.mit.edu	37	11	100998653	100998653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998653G>A	ENST00000325455.5	-	1	2602	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	PGR_ENST00000263463.5_Silent_p.P383P|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor			36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCTTTAGAGCGGGCGGCTGGA	0.682000													Pancreas(124;2271 2354 21954 22882)											0							SO:0001819	synonymous_variant			ENST00000325455.5	1	1	hg19	CCDS8310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	1	0	0	36	192	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	35	190	0	29	2								-2.993087	1	1	119910	5	37	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
PGR	5241	broad.mit.edu	37	11	100998847	100998847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998847G>A	ENST00000325455.5	-	1	2408	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	PGR_ENST00000263463.5_Missense_Mutation_p.R319C|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor			36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGCCGAGTGCGGGCTGCCAAT	0.687000													Pancreas(124;2271 2354 21954 22882)											0							SO:0001583	missense			ENST00000325455.5	1	1	hg19	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214077	0.58452	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.18657	2.2;2.2	4.37	3.38	0.38709	.	0.000000	0.40144	N	0.001167	T	0.45994	0.1370	M	0.82323	2.585	0.47819	D	0.999528	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.52132	-0.8616	10	0.87932	D	0	.	11.0039	0.47622	0.0:0.0:0.611:0.3889	.	319;319	Q8TDS3;P06401	.;PRGR_HUMAN	C	319	ENSP00000325120:R319C;ENSP00000263463:R319C	ENSP00000263463:R319C	R	-	1	0	PGR	100504057	0.993000	0.37304	1.000000	0.80357	0.746000	0.42486	1.562000	0.36353	1.962000	0.57031	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	1	0	0	38	171	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	37	162	0	24	2								-3.459488	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGR	5241	broad.mit.edu	37	11	100999149	100999149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100999149G>A	ENST00000325455.5	-	1	2106	c.653C>T	c.(652-654)gCg>gTg	p.A218V	PGR_ENST00000263463.5_Missense_Mutation_p.A218V|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor			36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AACCTCCACCGCAGCGGCCTG	0.711000													Pancreas(124;2271 2354 21954 22882)											0							SO:0001583	missense			ENST00000325455.5	1	1	hg19	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	1.375	-0.585081	0.03827	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08008	3.14;3.14	3.72	-5.21	0.02815	.	2.543820	0.01540	N	0.019191	T	0.03827	0.0108	N	0.17723	0.515	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.33445	-0.9868	10	0.02654	T	1	.	2.2323	0.04000	0.4059:0.1211:0.3515:0.1215	.	218;218	Q8TDS3;P06401	.;PRGR_HUMAN	V	218	ENSP00000325120:A218V;ENSP00000263463:A218V	ENSP00000263463:A218V	A	-	2	0	PGR	100504359	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.615000	0.05597	-0.747000	0.04759	-0.258000	0.10820	GCG		TCGA-IB-7651-01A-11D-2154-08	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	1	0	0	35	147	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	1	35	147	0	21	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC6	7225	broad.mit.edu	37	11	101342042	101342042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342042G>A	ENST00000344327.3	-	9	2705	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S|TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6			55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)			AAGGGTACAGGAAGTGTTCTG	0.438000													Colon(166;1315 1927 11094 12848 34731)											0							SO:0001583	missense			ENST00000344327.3	1	1	hg19	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897437	0.91962	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97184	0.9853	10	0.87932	D	0	-16.1746	19.7888	0.96450	0.0:0.0:1.0:0.0	.	706;645;761	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	761;683;645;706	ENSP00000340913:P761S;ENSP00000435574:P683S;ENSP00000343672:P645S;ENSP00000353687:P706S	ENSP00000340913:P761S	P	-	1	0	TRPC6	100847252	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.864000	0.99589	2.662000	0.90505	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	1	0	1	92	474	0	113	0	3.219903e-01	0	7	0	113	2		0	0	0	0	0	2	1	1	90	469	0	113	2								-20.000000	1	1	121412	1	32	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC6	7225	broad.mit.edu	37	11	101342956	101342956	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342956A>G	ENST00000344327.3	-	8	2541	c.2117T>C	c.(2116-2118)gTt>gCt	p.V706A	TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A|TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A|TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6			55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)			TCCATAAAGAACGTAACCAAT	0.338000													Colon(166;1315 1927 11094 12848 34731)											0							SO:0001583	missense			ENST00000344327.3	1	1	hg19	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518349	0.44763	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.81	5.81	0.92471	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.47190	1.495	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.956	D;D;D	0.87578	0.998;0.995;0.927	D	0.99215	1.0877	10	0.33141	T	0.24	-6.7012	16.1667	0.81768	1.0:0.0:0.0:0.0	.	651;590;706	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	A	706;628;590;651	ENSP00000340913:V706A;ENSP00000435574:V628A;ENSP00000343672:V590A;ENSP00000353687:V651A	ENSP00000340913:V706A	V	-	2	0	TRPC6	100848166	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.531000	0.81973	2.210000	0.71456	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	1	0	1	58	313	0	113	0	6.787229e-02	0	3	0	113	2		0	0	0	0	0	2	1	1	57	311	0	112	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC6	7225	broad.mit.edu	37	11	101353865	101353865	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101353865T>G	ENST00000344327.3	-	5	1749	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T|TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T|TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6			55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)			TGCTACAAACTTCATGAATGG	0.413000													Colon(166;1315 1927 11094 12848 34731)											0							SO:0001583	missense			ENST00000344327.3	1	1	hg19	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618452	0.66787	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.969;0.997	D	0.87137	0.2200	10	0.87932	D	0	-10.7074	15.6364	0.76958	0.0:0.0:0.0:1.0	.	387;326;442	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	442;442;326;387	ENSP00000340913:K442T;ENSP00000435574:K442T;ENSP00000343672:K326T;ENSP00000353687:K387T	ENSP00000340913:K442T	K	-	2	0	TRPC6	100859075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.089000	0.63090	0.482000	0.46254	AAG		TCGA-IB-7651-01A-11D-2154-08	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	1	0	1	37	228	0	61	0	2.068399e-01	0	6	0	61	2		0	0	0	0	0	2	1	1	37	225	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999925	0.990000	1	9.900000e-01	1
TRPC6	7225	broad.mit.edu	37	11	101374763	101374763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101374763C>T	ENST00000344327.3	-	2	1361	c.937G>A	c.(937-939)Gag>Aag	p.E313K	TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Missense_Mutation_p.E313K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6			55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)			ACCTTGAACTCTTTCTCAATA	0.473000													Colon(166;1315 1927 11094 12848 34731)											0							SO:0001583	missense			ENST00000344327.3	1	1	hg19	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036539	0.93630	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.7	5.7	0.88788	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.90595	3.13	0.80722	D	1	D;D;D	0.55385	0.964;0.961;0.971	P;D;P	0.63381	0.742;0.914;0.832	D	0.95753	0.8793	10	0.87932	D	0	-0.7207	19.8405	0.96681	0.0:1.0:0.0:0.0	.	313;313;313	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	K	313	ENSP00000340913:E313K;ENSP00000435574:E313K;ENSP00000343672:E313K;ENSP00000353687:E313K	ENSP00000340913:E313K	E	-	1	0	TRPC6	100879973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	1	0	1	116	547	0	177	0	4.235948e-01	0	8	0	177	2		0	0	0	0	0	2	1	1	115	536	0	177	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC6	4588	broad.mit.edu	37	11	1016172	1016172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016172G>A	ENST00000421673.2	-	31	6679	c.6629C>T	c.(6628-6630)gCc>gTc	p.A2210V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming			80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GGGGAGAGTGGCCCTAATGGT	0.552000																								0							SO:0001583	missense			ENST00000421673.2	1	1	hg19	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023623	0.19433	.	.	ENSG00000184956	ENST00000421673	T	0.22336	1.96	2.6	1.66	0.24008	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.25759	0.063	T	0.25847	-1.0120	9	0.48119	T	0.1	.	7.7325	0.28796	0.1439:0.0:0.8561:0.0	.	2210	Q6W4X9	MUC6_HUMAN	V	2210	ENSP00000406861:A2210V	ENSP00000406861:A2210V	A	-	2	0	MUC6	1006172	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.771000	0.26633	0.372000	0.24591	0.448000	0.29417	GCC		TCGA-IB-7651-01A-11D-2154-08	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	0	8	169	0	37	0	3.549751e-01	0	24	0	37	2		0	0	0	0	0	2	1	9.883400e-01	8	163	0	36	2								-10.788320	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.560000	0.260000	1.000000	1.000000	0.591829	0.560000	0	3.900000e-01	7.900000e-01
C11orf70	85016	broad.mit.edu	37	11	101951987	101951987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101951987C>A	ENST00000434758.2	+	6	678	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70			12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)		CAGATTACCTCTTCTGTCTTT	0.294000																								0							SO:0001583	missense			ENST00000434758.2	1	1	hg19	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517777	0.85495	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.74	5.74	0.90152	.	0.047893	0.85682	D	0.000000	D	0.83672	0.5305	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85111	0.0963	9	0.87932	D	0	-25.6465	18.8612	0.92273	0.0:1.0:0.0:0.0	.	217	Q9BRQ4	CK070_HUMAN	Y	217;217;179	.	ENSP00000392150:S179Y	S	+	2	0	C11orf70	101457197	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.119000	0.71590	2.873000	0.98535	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	1	0	1	48	230	0	48	0	5.407001e-01	1	9	0	48	2		0	0	0	0	0	2	1	1	47	229	0	48	2								-3.081515	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YAP1	10413	broad.mit.edu	37	11	102033283	102033283	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102033283T>C	ENST00000282441.5	+	3	1057	c.669T>C	c.(667-669)aaT>aaC	p.N223N	YAP1_ENST00000524575.1_Silent_p.N45N|YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1			4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)		TGCAGCAGAATATGATGAACT	0.478000													Colon(50;247 1103 7861 28956)											0							SO:0001819	synonymous_variant			ENST00000282441.5	1	1	hg19	CCDS44716.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	0	0	1	180	714	0	212	1	1	51	199	0	212	2		0	0	0	0	0	2	1	1	178	695	0	210	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BIRC2	329	broad.mit.edu	37	11	102220830	102220830	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102220830A>G	ENST00000227758.2	+	2	1644	c.245A>G	c.(244-246)aAa>aGa	p.K82R	BIRC2_ENST00000532672.1_Missense_Mutation_p.K61R|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2			26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)		GACAAGGTCAAATGCTTCTGT	0.428000																								0							SO:0001583	missense			ENST00000227758.2	1	1	hg19	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.927061	0.52759	2.27E-4	0.0	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.65	3.35	0.38373	Baculoviral inhibition of apoptosis protein repeat (5);	0.180898	0.64402	N	0.000010	T	0.57666	0.2069	N	0.17723	0.515	0.41648	D	0.989116	B	0.28350	0.208	B	0.36766	0.232	T	0.53968	-0.8363	10	0.46703	T	0.11	-4.2378	9.2562	0.37584	0.8532:0.0:0.1468:0.0	.	82	Q13490	BIRC2_HUMAN	R	33;82;82;61;61	ENSP00000431723:K33R;ENSP00000227758:K82R;ENSP00000434979:K61R;ENSP00000434708:K61R	ENSP00000227758:K82R	K	+	2	0	BIRC2	101726040	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.930000	0.48924	0.567000	0.29293	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	1	0	1	76	376	0	87	1	1	29	115	0	87	2		0	0	0	0	0	2	1	1	76	373	0	87	2								-20.000000	1	1	121412	8	43	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP7	4316	broad.mit.edu	37	11	102394121	102394121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102394121G>T	ENST00000260227.4	-	5	677	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)			12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	Marimastat(DB00786)	GCAGCATACAGGAAGTTAATC	0.343000																								0							SO:0001583	missense			ENST00000260227.4	1	1	hg19	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877973	0.51801	.	.	ENSG00000137673	ENST00000260227	T	0.22539	1.95	5.23	1.88	0.25563	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.722580	0.11909	N	0.517868	T	0.42944	0.1225	M	0.79475	2.455	0.09310	N	0.999992	D	0.89917	1.0	D	0.77004	0.989	T	0.12682	-1.0538	10	0.87932	D	0	-2.0711	6.7537	0.23501	0.4982:0.0:0.5018:0.0	.	209	P09237	MMP7_HUMAN	M	209	ENSP00000260227:L209M	ENSP00000260227:L209M	L	-	1	2	MMP7	101899331	.	.	0.384000	0.26145	0.945000	0.59286	.	.	0.609000	0.30018	0.557000	0.71058	CTG		TCGA-IB-7651-01A-11D-2154-08	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2	1	0	1	68	262	0	79	1	1	1931	1641	0	79	2		0	0	0	0	0	2	1	1	67	258	0	79	2								-3.095820	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC6	4588	broad.mit.edu	37	11	1025023	1025023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1025023G>A	ENST00000421673.2	-	24	3096	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming			80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TACCTGCTGCGCGTCTCGAAG	0.642000																								0							SO:0001583	missense			ENST00000421673.2	1	1	hg19	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717778	0.30413	.	.	ENSG00000184956	ENST00000421673	T	0.60797	0.16	3.78	3.78	0.43462	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.80014	0.4546	M	0.90309	3.105	0.48830	D	0.999711	D	0.89917	1.0	D	0.87578	0.998	D	0.85651	0.1282	9	0.87932	D	0	.	16.1883	0.81967	0.0:0.0:1.0:0.0	.	1016	Q6W4X9	MUC6_HUMAN	C	1016	ENSP00000406861:R1016C	ENSP00000406861:R1016C	R	-	1	0	MUC6	1015023	0.994000	0.37717	0.080000	0.20451	0.096000	0.18686	2.318000	0.43779	2.124000	0.65301	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	1	26	178	0	27	0	4.824334e-02	0	3	0	27	2		0	0	0	0	0	2	1	9.999999e-01	26	176	0	26	2								-20.000000	1	1	121000	1	25	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998622	0.990000	1	9.900000e-01	1
MMP8	4317	broad.mit.edu	37	11	102584189	102584189	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102584189C>A	ENST00000236826.3	-	10	1393		c.e10-1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)			32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	Marimastat(DB00786)	TGGAAGAAATCTATAAAAAAA	0.353000																								0							SO:0001630	splice_region_variant			ENST00000236826.3	0	1	hg19	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005730	0.54254	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1124	0.72368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP8	102089399	0.988000	0.35896	0.065000	0.19835	0.338000	0.28826	3.448000	0.52943	2.622000	0.88805	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	0	0	0	10	249	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.967962e-01	9	246	0	51	2								-3.298430	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.470000	0.240000	1.000000	0.450000	0.508103	0.470000	0	3.400000e-01	6.600000e-01
MMP8	4317	broad.mit.edu	37	11	102595565	102595565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102595565G>A	ENST00000236826.3	-	1	120	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)			32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	Marimastat(DB00786)	AGCAGAAATGGAAGCGTCTTC	0.458000																								0							SO:0001583	missense			ENST00000236826.3	1	1	hg19	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702308	0.30232	.	.	ENSG00000118113	ENST00000236826	T	0.12361	2.69	5.26	0.871	0.19107	.	1.388890	0.04912	N	0.453405	T	0.13543	0.0328	L	0.45352	1.415	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.42015	-0.9476	10	0.15499	T	0.54	.	11.4239	0.49998	0.0:0.5293:0.3352:0.1356	.	8	P22894	MMP8_HUMAN	S	8	ENSP00000236826:P8S	ENSP00000236826:P8S	P	-	1	0	MMP8	102100775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.246000	0.18160	-0.023000	0.13963	-0.176000	0.13171	CCA		TCGA-IB-7651-01A-11D-2154-08	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	1	0	1	154	646	0	188		0	0	0	0	188	2		0	0	0	0	0	2	1	1	150	636	0	188	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP10	4319	broad.mit.edu	37	11	102647433	102647433	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102647433C>A	ENST00000279441.4	-	5	733	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)			22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	Marimastat(DB00786)	TACATCAAAGCTTCAGTGTTG	0.473000																								0							SO:0001583	missense			ENST00000279441.4	1	1	hg19	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	c	19.51	3.841626	0.71488	.	.	ENSG00000166670	ENST00000279441	T	0.11930	2.73	4.31	2.35	0.29111	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.283692	0.26627	N	0.023340	T	0.17874	0.0429	L	0.37507	1.11	0.48288	D	0.999629	B	0.33280	0.405	P	0.47827	0.558	T	0.05321	-1.0892	10	0.48119	T	0.1	.	8.7369	0.34534	0.1544:0.7654:0.0:0.0802	.	233	P09238	MMP10_HUMAN	S	233	ENSP00000279441:A233S	ENSP00000279441:A233S	A	-	1	0	MMP10	102152643	0.661000	0.27430	0.002000	0.10522	0.004000	0.04260	1.335000	0.33839	0.493000	0.27837	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1	1	0	1	80	410	0	86	1	9.379967e-01	9	17	0	86	2		0	0	0	0	0	2	1	1	78	403	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP12	4321	broad.mit.edu	37	11	102733744	102733744	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102733744G>A	ENST00000532855.1	-	0	1595							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)			26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ATATCTCTAAGTAGTGGTACA	0.264000																								0											ENST00000532855.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	0	0	0	13	68	0	10	1	1	178	566	0	10	2		0	0	0	0	0	2	1	9.996864e-01	13	68	0	10	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998098	0.990000	1	9.900000e-01	1
MUC6	4588	broad.mit.edu	37	11	1028027	1028027	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028027G>T	ENST00000421673.2	-	15	1836	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming			80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CCTGTCCTCAGCAGCATGGAG	0.667000																								0							SO:0001583	missense			ENST00000421673.2	0	1	hg19	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.560	0.471627	0.12461	.	.	ENSG00000184956	ENST00000421673	T	0.79141	-1.24	4.93	-0.193	0.13244	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	1.093900	0.07414	U	0.892955	T	0.63295	0.2499	N	0.20610	0.595	0.09310	N	1	B	0.24186	0.099	B	0.24848	0.056	T	0.51865	-0.8651	10	0.38643	T	0.18	.	8.676	0.34179	0.0:0.2892:0.5617:0.1491	.	596	Q6W4X9	MUC6_HUMAN	M	596	ENSP00000406861:L596M	ENSP00000406861:L596M	L	-	1	2	MUC6	1018027	0.000000	0.05858	0.876000	0.34364	0.019000	0.09904	-0.459000	0.06728	0.229000	0.21039	-0.325000	0.08501	CTG		TCGA-IB-7651-01A-11D-2154-08	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	0	7	42	0	8	0	6.869860e-02	0	3	0	8	2		0	0	0	0	0	2	1	9.832974e-01	7	42	0	8	2								-14.246320	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.740000	1.000000	1.000000	0.982742	0.990000	1	9.900000e-01	1
MMP13	4322	broad.mit.edu	37	11	102820881	102820881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102820881G>A	ENST00000260302.3	-	6	903	c.875C>T	c.(874-876)gCc>gTc	p.A292V	MMP13_ENST00000340273.4_Missense_Mutation_p.A292V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)			27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		Marimastat(DB00786)	ACTGGTAATGGCATCAAGGGA	0.443000																								0							SO:0001583	missense			ENST00000260302.3	1	1	hg19	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511149	0.96386	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.18810	2.19;2.19	5.77	5.77	0.91146	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.73445	-0.3980	10	0.87932	D	0	.	19.5952	0.95535	0.0:0.0:1.0:0.0	.	292	P45452	MMP13_HUMAN	V	292	ENSP00000260302:A292V;ENSP00000339672:A292V	ENSP00000260302:A292V	A	-	2	0	MMP13	102326091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.713000	0.92767	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	0	0	0	21	722	0	147	1	7.298954e-01	3	87	0	147	2		0	0	0	0	0	2	1	9.999970e-01	21	710	0	147	2								-3.133654	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.340000	0.210000	1.000000	0.330000	0.371469	0.340000	0	2.700000e-01	4.300000e-01
MUC6	4588	broad.mit.edu	37	11	1028689	1028689	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028689C>A	ENST00000421673.2	-	13	1598	c.1548G>T	c.(1546-1548)caG>caT	p.Q516H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming			80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TGACATAGGCCTGGAAGATGG	0.627000																								0							SO:0001583	missense			ENST00000421673.2	0	1	hg19	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371993	0.24857	.	.	ENSG00000184956	ENST00000421673	T	0.60548	0.18	4.34	2.37	0.29283	von Willebrand factor, type D domain (3);	0.000000	0.29987	U	0.010684	T	0.67192	0.2867	L	0.55743	1.74	0.30497	N	0.770732	D	0.89917	1.0	D	0.79784	0.993	T	0.65961	-0.6041	10	0.87932	D	0	.	9.1739	0.37100	0.0:0.8102:0.0:0.1898	.	516	Q6W4X9	MUC6_HUMAN	H	516	ENSP00000406861:Q516H	ENSP00000406861:Q516H	Q	-	3	2	MUC6	1018689	0.040000	0.19996	0.834000	0.33040	0.213000	0.24496	0.097000	0.15168	0.940000	0.37473	0.313000	0.20887	CAG		TCGA-IB-7651-01A-11D-2154-08	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	1	14	98	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.997960e-01	14	96	0	20	2								-19.999490	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.860000	1.000000	1.000000	0.991569	0.990000	1	9.900000e-01	1
MUC6	4588	broad.mit.edu	37	11	1029525	1029525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1029525C>A	ENST00000421673.2	-	9	1156	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming			80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TGTGACCTCCCCGGGGGCATA	0.667000																								0							SO:0001583	missense			ENST00000421673.2	1	1	hg19	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.753864	0.69648	.	.	ENSG00000184956	ENST00000421673	T	0.74421	-0.84	3.84	2.92	0.33932	.	0.000000	0.31257	U	0.007963	D	0.89051	0.6605	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.90475	0.4456	10	0.87932	D	0	.	10.9721	0.47444	0.0:0.9048:0.0:0.0952	.	369	Q6W4X9	MUC6_HUMAN	V	369	ENSP00000406861:G369V	ENSP00000406861:G369V	G	-	2	0	MUC6	1019525	0.998000	0.40836	0.267000	0.24556	0.028000	0.11728	6.200000	0.72118	0.920000	0.36970	0.457000	0.33378	GGG		TCGA-IB-7651-01A-11D-2154-08	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	1	0	0	12	146	0	35	0	0	0	1	0	35	2		0	0	0	0	0	2	1	9.992047e-01	12	145	0	35	2								-16.909380	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.910000	0.500000	1.000000	1.000000	0.867411	0.910000	1	6.800000e-01	1
DYNC2H1	79659	broad.mit.edu	37	11	102980404	102980404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102980404G>A	ENST00000375735.2	+	1	245	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1			33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)			CCACTGTTGTGCAACTGTCTT	0.517000																								0							SO:0001583	missense			ENST00000375735.2	1	1	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206026	0.01568	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.28454	1.75;1.61;1.75	5.63	-4.3	0.03710	.	0.812540	0.09108	U	0.847418	T	0.07683	0.0193	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29458	-1.0011	10	0.24483	T	0.36	.	2.6491	0.04993	0.2384:0.257:0.3793:0.1253	.	34;34;34	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Y	34	ENSP00000364887:C34Y;ENSP00000334021:C34Y;ENSP00000381167:C34Y	ENSP00000334021:C34Y	C	+	2	0	DYNC2H1	102485614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.466000	0.06672	-0.402000	0.07633	-1.322000	0.01289	TGC		TCGA-IB-7651-01A-11D-2154-08	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1	29	150	0	44	0	1.325516e-01	0	4	0	44	2		0	0	0	0	0	2	1	1	28	146	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
DYNC2H1	79659	broad.mit.edu	37	11	103062952	103062952	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103062952T>G	ENST00000375735.2	+	47	7811	c.7667T>G	c.(7666-7668)tTt>tGt	p.F2556C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1			33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)			ACATCAGTGTTTCAAGGAGAT	0.343000																								0							SO:0001583	missense			ENST00000375735.2	1	1	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354833	0.61293	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	.	.	.	.	.	T	0.38612	0.1047	L	0.40543	1.245	0.36516	D	0.869866	P;P	0.45531	0.78;0.86	B;P	0.50440	0.325;0.641	T	0.41893	-0.9483	9	0.51188	T	0.08	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	2556;2556	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	2556	ENSP00000364887:F2556C;ENSP00000381167:F2556C	ENSP00000364887:F2556C	F	+	2	0	DYNC2H1	102568162	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.682000	0.84083	2.302000	0.77476	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1	17	69	0	22	1	8.210646e-01	3	12	0	22	2		0	0	0	0	0	2	1	9.999701e-01	17	64	0	21	2								-13.210970	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999883	0.990000	1	9.900000e-01	1
DYNC2H1	79659	broad.mit.edu	37	11	103086499	103086499	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103086499A>T	ENST00000375735.2	+	55	8888	c.8744A>T	c.(8743-8745)aAc>aTc	p.N2915I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1			33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)			GATGAACTGAACAGAAAAGCT	0.353000																								0							SO:0001583	missense			ENST00000375735.2	1	1	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069975	0.76301	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74315	-0.83;-0.83	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.090476	0.41194	U	0.000931	T	0.74023	0.3662	L	0.40543	1.245	0.50313	D	0.999868	P;P	0.40875	0.614;0.731	P;B	0.46885	0.53;0.395	T	0.77011	-0.2746	10	0.66056	D	0.02	.	15.327	0.74172	1.0:0.0:0.0:0.0	.	2915;2915	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2915	ENSP00000364887:N2915I;ENSP00000381167:N2915I	ENSP00000364887:N2915I	N	+	2	0	DYNC2H1	102591709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.313000	0.78978	2.016000	0.59253	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1	19	77	0	24	1	9.758972e-01	7	21	0	24	2		0	0	0	0	0	2	1	9.999952e-01	19	76	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
DYNC2H1	79659	broad.mit.edu	37	11	103093703	103093703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103093703C>T	ENST00000375735.2	+	59	9385	c.9241C>T	c.(9241-9243)Cgt>Tgt	p.R3081C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1			33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)			GAATGCTAAGCGTGCCAGTAC	0.398000																								0							SO:0001583	missense			ENST00000375735.2	1	1	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222317	0.79464	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74421	-0.84;-0.84	5.92	5.92	0.95590	Dynein heavy chain, coiled coil stalk (1);	0.060551	0.64402	D	0.000004	D	0.88570	0.6472	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90260	0.4300	10	0.87932	D	0	.	13.706	0.62639	0.2692:0.7308:0.0:0.0	.	3081;3081	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	3081	ENSP00000364887:R3081C;ENSP00000381167:R3081C	ENSP00000364887:R3081C	R	+	1	0	DYNC2H1	102598913	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.409000	0.52657	2.809000	0.96659	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1	40	232	0	69	1	9.181487e-01	12	15	0	69	2		0	0	0	0	0	2	1	1	39	230	0	69	2								-19.499260	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
DYNC2H1	79659	broad.mit.edu	37	11	103158293	103158293	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103158293G>T	ENST00000375735.2	+	75	11198	c.11054G>T	c.(11053-11055)aGa>aTa	p.R3685I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1			33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)			AGACCGGACAGATTGCAAAGT	0.323000																								0							SO:0001583	missense			ENST00000375735.2	1	1	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218475	0.95104	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.16597	2.33;2.33	5.79	5.79	0.91817	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.993;0.997	T	0.62835	-0.6770	10	0.87932	D	0	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	3685;3692	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3685;3692	ENSP00000364887:R3685I;ENSP00000381167:R3692I	ENSP00000364887:R3685I	R	+	2	0	DYNC2H1	102663503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.711000	0.84669	2.746000	0.94184	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1	17	104	0	22	1	9.464487e-01	14	19	0	22	2		0	0	0	0	0	2	1	9.999741e-01	17	102	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.997954	0.990000	1	9.900000e-01	1
DYNC2H1	79659	broad.mit.edu	37	11	103191850	103191850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103191850C>T	ENST00000375735.2	+	81	11962	c.11818C>T	c.(11818-11820)Ctt>Ttt	p.L3940F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1			33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)			CCTTAGAGTTCTTCAGTCATA	0.333000																								0							SO:0001583	missense			ENST00000375735.2	1	1	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204404	0.79127	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.12255	2.7;2.7	5.72	5.72	0.89469	Dynein heavy chain (1);	0.134693	0.50627	D	0.000104	T	0.49541	0.1563	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58691	-0.7592	10	0.72032	D	0.01	.	19.8551	0.96755	0.0:1.0:0.0:0.0	.	3940;3947	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	3940;3947;186	ENSP00000364887:L3940F;ENSP00000381167:L3947F	ENSP00000364887:L3940F	L	+	1	0	DYNC2H1	102697060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.626000	0.46460	2.705000	0.92388	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	1	0	1	17	73	0	22	1	9.941278e-01	7	33	0	22	2		0	0	0	0	0	2	1	9.999818e-01	17	73	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999832	0.990000	1	9.900000e-01	1
ADM	133	broad.mit.edu	37	11	10328148	10328148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10328148C>T	ENST00000528655.1	+	3	1135	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ADM_ENST00000534464.1_Missense_Mutation_p.A126V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V|ADM_ENST00000530439.1_Missense_Mutation_p.A105V|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000525063.1_Missense_Mutation_p.A173V			P35318	ADML_HUMAN	adrenomedullin			6					GCACACGGGGCTCCAGCCCCC	0.672000																								0							SO:0001583	missense			ENST00000528655.1	1	1	hg19	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197914	0.58126	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.56275	1.06;1.01;0.47;1.06;1.06	5.21	1.66	0.24008	.	0.488207	0.24267	N	0.040036	T	0.27063	0.0663	N	0.08118	0	0.18873	N	0.999985	B	0.09022	0.002	B	0.12156	0.007	T	0.13150	-1.0520	10	0.33940	T	0.23	-2.2324	6.4641	0.21971	0.0:0.6484:0.1456:0.206	.	173	P35318	ADML_HUMAN	V	173;126;105;173;173	ENSP00000278175:A173V;ENSP00000431438:A126V;ENSP00000436837:A105V;ENSP00000436607:A173V;ENSP00000435124:A173V	ENSP00000278175:A173V	A	+	2	0	ADM	10284724	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	0.996000	0.29719	0.644000	0.30656	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	1	0	1	47	210	0	38	1	9.999962e-01	29	58	0	38	2		0	0	0	0	0	2	1	1	46	204	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDI1	414301	broad.mit.edu	37	11	103907738	103907738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103907738C>T	ENST00000302259.3	+	1	431	c.188C>T	c.(187-189)tCc>tTc	p.S63F	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)			52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)			TCCCTGGGCTCCTACGGCCTC	0.582000																								0							SO:0001583	missense			ENST00000302259.3	1	1	hg19	CCDS31660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.580993|2.580993	0.46006|0.46006	.|.	.|.	ENSG00000170962|ENSG00000170967	ENST00000529268|ENST00000302259	T|T	0.36520|0.74002	1.25|-0.8	4.97|4.97	4.04|4.04	0.47022|0.47022	.|Ubiquitin supergroup (1);Ubiquitin (2);	.|0.318671	.|0.34555	.|N	.|0.003868	D|D	0.83505|0.83505	0.5269|0.5269	M|M	0.75447|0.75447	2.3|2.3	0.30488|0.30488	N|N	0.771676|0.771676	.|D	.|0.69078	.|0.997	.|D	.|0.69824	.|0.966	T|T	0.82246|0.82246	-0.0552|-0.0552	7|10	0.72032|0.72032	D|D	0.01|0.01	-8.519|-8.519	10.7048|10.7048	0.45948|0.45948	0.1902:0.8098:0.0:0.0|0.1902:0.8098:0.0:0.0	.|.	.|63	.|Q8WTU0	.|DDI1_HUMAN	E|F	6|63	ENSP00000432909:G6E|ENSP00000302805:S63F	ENSP00000432909:G6E|ENSP00000302805:S63F	G|S	-|+	2|2	0|0	PDGFD|DDI1	103412948|103412948	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.333000|0.333000	0.28666|0.28666	1.837000|1.837000	0.39201|0.39201	1.417000|1.417000	0.47077|0.47077	0.655000|0.655000	0.94253|0.94253	GGA|TCC		TCGA-IB-7651-01A-11D-2154-08	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	1	0	0	185	775	0	170		0	0	0	0	170	2		0	0	0	0	0	2	1	1	185	762	0	170	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDI1	414301	broad.mit.edu	37	11	103908400	103908400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103908400C>T	ENST00000302259.3	+	1	1093	c.850C>T	c.(850-852)Cga>Tga	p.R284*	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)			52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)			GCTGGTGGACCGACGGTGGGC	0.512000																								0							SO:0001587	stop_gained			ENST00000302259.3	0	1	hg19	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	37	6.548956	0.97654	.	.	ENSG00000170967	ENST00000302259	.	.	.	5.21	3.28	0.37604	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4899	11.4457	0.50123	0.4742:0.5258:0.0:0.0	.	.	.	.	X	284	.	ENSP00000302805:R284X	R	+	1	2	DDI1	103413610	0.997000	0.39634	0.822000	0.32727	0.672000	0.39443	0.464000	0.21988	0.840000	0.34995	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	0	0	0	12	529	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	9.989568e-01	12	513	0	82	2								-2.743754	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.270000	0.140000	1.000000	0.260000	0.307700	0.270000	0	2.000000e-01	3.700000e-01
CASP4	837	broad.mit.edu	37	11	104820346	104820346	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104820346G>T	ENST00000444739.2	-	5	1615	c.705C>A	c.(703-705)ttC>ttA	p.F235L	CASP4_ENST00000531333.1_5'Flank|CASP4_ENST00000393150.3_Missense_Mutation_p.F179L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	p.F235F(1)		23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			TGAATATCTGGAAGATGGTGT	0.483000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000444739.2	1	1	hg19	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013534	0.35511	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20738	2.05;2.05	4.57	0.471	0.16752	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.171913	0.52532	D	0.000069	T	0.25082	0.0609	M	0.73319	2.225	0.20821	N	0.999842	P;P	0.40578	0.722;0.593	B;B	0.44044	0.439;0.233	T	0.10268	-1.0637	10	0.62326	D	0.03	.	7.3478	0.26674	0.5099:0.0:0.4901:0.0	.	235;235	B4E2D2;P49662	.;CASP4_HUMAN	L	235;179;188	ENSP00000388566:F235L;ENSP00000376857:F179L	ENSP00000347741:F188L	F	-	3	2	CASP4	104325556	0.064000	0.20934	0.380000	0.26093	0.105000	0.19272	0.351000	0.20096	0.169000	0.19679	-0.142000	0.14014	TTC		TCGA-IB-7651-01A-11D-2154-08	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	1	0	1	104	485	0	123	1	1	99	380	0	123	2		0	0	0	0	0	2	1	1	104	475	0	123	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP4	837	broad.mit.edu	37	11	104822727	104822727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104822727G>A	ENST00000444739.2	-	3	1178	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	CASP4_ENST00000531333.1_Intron|CASP4_ENST00000393150.3_Missense_Mutation_p.P34S	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase			23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			TCCATATTCGGATGAGCTGCA	0.443000																								0							SO:0001583	missense			ENST00000444739.2	1	1	hg19	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	0.753	-0.772249	0.02951	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.07800	4.88;4.52;3.16	3.9	-6.11	0.02131	DEATH-like (1);	1.198120	0.05940	N	0.636805	T	0.02304	0.0071	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.46176	-0.9210	10	0.09590	T	0.72	.	6.0759	0.19915	0.3684:0.2838:0.3478:0.0	.	90;90;90	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	S	90;34;43;90	ENSP00000388566:P90S;ENSP00000376857:P34S;ENSP00000401673:P90S	ENSP00000347741:P43S	P	-	1	0	CASP4	104327937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.784000	0.04633	-0.969000	0.03573	-0.216000	0.12614	CCG		TCGA-IB-7651-01A-11D-2154-08	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	1	0	1	62	250	0	63	1	1	110	345	0	63	2		0	0	0	0	0	2	1	1	62	247	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP5	838	broad.mit.edu	37	11	104871201	104871201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104871201C>T	ENST00000260315.3	-	6	738	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000393141.2_Missense_Mutation_p.A260T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T|CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000393139.2_3'UTR			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase			35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			GCAGCAAATGCCCTCAGCACT	0.458000																								0							SO:0001583	missense			ENST00000260315.3	1	1	hg19	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	5.411	0.260999	0.10239	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	4.06	-0.909	0.10514	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.945475	0.08952	N	0.870019	T	0.16300	0.0392	L	0.56340	1.77	0.09310	N	1	B;B;B;B	0.30033	0.016;0.056;0.266;0.122	B;B;B;B	0.19946	0.013;0.009;0.027;0.016	T	0.29792	-1.0000	10	0.20519	T	0.43	.	7.7663	0.28982	0.0:0.4791:0.0:0.5209	.	105;189;247;260	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	T	260;105;247;189;260;105	ENSP00000376849:A260T;ENSP00000398130:A105T;ENSP00000260315:A247T;ENSP00000388365:A189T;ENSP00000436877:A260T;ENSP00000434471:A105T	ENSP00000260315:A247T	A	-	1	0	CASP5	104376411	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.648000	0.05391	-0.001000	0.14495	0.205000	0.17691	GCA		TCGA-IB-7651-01A-11D-2154-08	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	1	0	1	44	245	0	47	0	1.746011e-01	1	4	0	47	2		0	0	0	0	0	2	1	1	44	242	0	47	2								-3.151974	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
CASP5	838	broad.mit.edu	37	11	104872894	104872894	+	Missense_Mutation	SNP	C	C	T	rs142438968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104872894C>T	ENST00000260315.3	-	5	577	c.578G>A	c.(577-579)cGc>cAc	p.R193H	CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000393141.2_Missense_Mutation_p.R206H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H|CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000393139.2_Silent_p.T123T			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase			35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			GAGAGCCAGGCGTCTGCGGTC	0.483000																								0							SO:0001583	missense			ENST00000260315.3	1	1	hg19	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204119	0.38905	4.54E-4	0.0	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	3.98	3.98	0.46160	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.982;0.993;0.993;0.988	T	0.72293	-0.4336	10	0.72032	D	0.01	.	13.923	0.63945	0.0:1.0:0.0:0.0	.	51;135;193;206	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	H	206;51;193;135;206;51	ENSP00000376849:R206H;ENSP00000398130:R51H;ENSP00000260315:R193H;ENSP00000388365:R135H;ENSP00000436877:R206H;ENSP00000434471:R51H	ENSP00000260315:R193H	R	-	2	0	CASP5	104378104	0.077000	0.21312	0.156000	0.22583	0.057000	0.15508	1.320000	0.33666	1.942000	0.56320	0.411000	0.27672	CGC		TCGA-IB-7651-01A-11D-2154-08	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	1	0	1	88	447	0	97	0	7.330215e-02	1	2	0	97	2		0	0	0	0	0	2	1	1	86	433	0	97	2								-20.000000	1	1	121412	2	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP5	838	broad.mit.edu	37	11	104879584	104879584	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104879584G>T	ENST00000260315.3	-	2	130	c.131C>A	c.(130-132)tCt>tAt	p.S44Y	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.S57Y|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase			35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			GGTCTGGATAGATGTTTGTCC	0.363000																								0							SO:0001583	missense			ENST00000260315.3	1	1	hg19	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	4.140	0.024356	0.08054	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.28454	4.56;1.61;4.59;4.56;2.72	1.15	-0.0252	0.13936	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.561;0.688	B;B	0.23150	0.02;0.044	T	0.17992	-1.0351	9	0.87932	D	0	.	2.9172	0.05756	0.6522:0.0:0.3478:0.0	.	44;57	P51878;P51878-5	CASP5_HUMAN;.	Y	57;11;44;57;28	ENSP00000376849:S57Y;ENSP00000376847:S11Y;ENSP00000260315:S44Y;ENSP00000436877:S57Y;ENSP00000415241:S28Y	ENSP00000260315:S44Y	S	-	2	0	CASP5	104384794	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.836000	0.27545	-0.031000	0.13781	-0.312000	0.09012	TCT		TCGA-IB-7651-01A-11D-2154-08	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	1	0	1	57	279	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	58	276	0	57	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP1	834	broad.mit.edu	37	11	104900402	104900402	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104900402G>T	ENST00000533400.1	-	6	887	c.852C>A	c.(850-852)gcC>gcA	p.A284A	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000528974.1_Silent_p.A245A|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000393136.4_Silent_p.A263A	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase			5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		Minocycline(DB01017)	CACCACGGCAGGCCTGGATGA	0.418000													NSCLC(41;1246 1743 4934)											0							SO:0001819	synonymous_variant			ENST00000533400.1	1	1	hg19	CCDS8330.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	1	0	0	22	226	0	46	0	9.992537e-01	0	120	0	46	2		0	0	0	0	0	2	1	9.999986e-01	22	218	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.680000	1.000000	1.000000	0.948610	0.990000	1	8.500000e-01	1
CARD17	440068	broad.mit.edu	37	11	104971328	104971328	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104971328A>G	ENST00000375707.1	-	2	202	c.186T>C	c.(184-186)atT>atC	p.I62I	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17			6					CCCCTTTCCGAATAACAGAGT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000375707.1	1	1	hg19	CCDS31662.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	1	0	0	60	602	0	121	0	8.565087e-03	0	2	0	121	2		0	0	0	0	0	2	1	1	59	590	0	121	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.830000	1.000000	1.000000	0.979296	0.990000	1	9.400000e-01	1
AMPD3	272	broad.mit.edu	37	11	10506432	10506432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10506432G>A	ENST00000396554.3	+	5	1023	c.682G>A	c.(682-684)Gat>Aat	p.D228N	AMPD3_ENST00000444303.2_Missense_Mutation_p.D60N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3			25					CCCCAACCTGGATTACTTGGT	0.577000																								0							SO:0001583	missense			ENST00000396554.3	1	1	hg19	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247013	0.39697	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.68	5.68	0.88126	.	0.324654	0.40554	N	0.001072	T	0.60676	0.2287	N	0.01817	-0.705	0.34621	D	0.718609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.62501	-0.6841	10	0.08381	T	0.77	-6.4747	15.2918	0.73870	0.0:0.1395:0.8605:0.0	.	226;219;228	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	N	60;228;219;219;226;219	ENSP00000396000:D60N;ENSP00000379802:D228N;ENSP00000433284:D219N;ENSP00000379801:D219N;ENSP00000436987:D226N;ENSP00000431648:D219N	ENSP00000379801:D219N	D	+	1	0	AMPD3	10463008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.853000	0.55941	2.692000	0.91855	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	1	0	1	83	450	0	116	1	8.589329e-01	4	17	0	116	2		0	0	0	0	0	2	1	1	82	434	0	113	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIA4	2893	broad.mit.edu	37	11	105797622	105797622	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105797622C>A	ENST00000530497.1	+	12	2003	c.2003C>A	c.(2002-2004)gCc>gAc	p.A668D	GRIA4_ENST00000393127.2_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4			82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)			ACAGAAATTGCCTATGGAACA	0.378000																								0							SO:0001583	missense			ENST00000530497.1	1	1	hg19	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178614	0.94846	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.67	5.67	0.87782	Ionotropic glutamate receptor (2);	0.072305	0.64402	D	0.000020	T	0.51415	0.1673	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.75484	0.824;0.986	T	0.49826	-0.8898	10	0.59425	D	0.04	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	668;668	P48058;G3V164	GRIA4_HUMAN;.	D	668	ENSP00000282499:A668D;ENSP00000376835:A668D;ENSP00000435775:A668D;ENSP00000432180:A668D	ENSP00000282499:A668D	A	+	2	0	GRIA4	105302832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.836000	0.97738	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1	1	0	0	25	266	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	9.999999e-01	25	264	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.680000	1.000000	1.000000	0.941100	0.990000	1	8.300000e-01	1
LYVE1	10894	broad.mit.edu	37	11	10582264	10582264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10582264C>A	ENST00000256178.3	-	4	639	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_5'UTR	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1			8					ACAATAAATTCTGTTGTTTGT	0.443000																								0							SO:0001587	stop_gained			ENST00000256178.3	0	1	hg19	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903816	0.72754	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	.	.	.	5.27	4.36	0.52297	.	0.458728	0.25205	N	0.032356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6432	10.1961	0.43056	0.0:0.9076:0.0:0.0924	.	.	.	.	X	161;57	.	ENSP00000256178:E161X	E	-	1	0	LYVE1	10538840	0.272000	0.24172	0.731000	0.30826	0.016000	0.09150	0.920000	0.28705	1.376000	0.46267	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	1	0	0	72	751	0	140	0	7.825358e-01	0	32	0	140	2		0	0	0	0	0	2	1	1	72	731	0	140	2								-18.073200	1	1	121412	1	33	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.810000	1.000000	1.000000	0.972317	0.990000	1	9.200000e-01	1
KBTBD3	143879	broad.mit.edu	37	11	105924236	105924236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105924236T>C	ENST00000526793.1	-	3	1339	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A|KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3			25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)			GTATGCATGGTTCTTGGTGTT	0.388000																								0							SO:0001583	missense			ENST00000526793.1	1	1	hg19	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592241	0.66219	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.76709	-1.04;-1.04;-1.04	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	L	0.31294	0.92	0.58432	D	0.999997	D;P	0.69078	0.997;0.905	D;P	0.69142	0.962;0.642	T	0.81252	-0.1017	10	0.39692	T	0.17	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	394;390	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	A	315;394;394	ENSP00000431910:T315A;ENSP00000436262:T394A;ENSP00000432163:T394A	ENSP00000436262:T394A	T	-	1	0	KBTBD3	105429446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.287000	0.76781	0.482000	0.46254	ACC		TCGA-IB-7651-01A-11D-2154-08	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	1	0	1	33	146	0	48	0	2.373117e-01	1	4	0	48	2		0	0	0	0	0	2	1	1	33	143	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KBTBD3	143879	broad.mit.edu	37	11	105929591	105929591	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105929591C>A	ENST00000531482.2	-	1	247		c.e1+1		KBTBD3_ENST00000531837.1_Splice_Site|KBTBD3_ENST00000526793.1_Splice_Site|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3			25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)			AGGTAAAGTACCTGAAAAAGT	0.323000																								0							SO:0001630	splice_region_variant			ENST00000531482.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.4	3.985867	0.74589	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KBTBD3	105434801	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.458000	0.80787	2.692000	0.91855	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	1	0	0	28	148	0	37	1	1.287051e-01	2	2	0	37	2		0	0	0	0	0	2	1	1	28	147	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999951	0.990000	1	9.900000e-01	1
AASDHPPT	60496	broad.mit.edu	37	11	105950319	105950319	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105950319G>A	ENST00000278618.4	+	2	531	c.309G>A	c.(307-309)ccG>ccA	p.P103P	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	p.P103P(1)		17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)			ATCCTTACCCGAATTTCAACT	0.393000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000278618.4	1	1	hg19	CCDS31664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	1	0	1	65	310	0	93	1	1	34	111	0	93	2		0	0	0	0	0	2	1	1	65	305	0	91	2								-20.000000	1	1	121412	5	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRVI1	10335	broad.mit.edu	37	11	10603427	10603427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10603427C>T	ENST00000436272.1	-	18	2344	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1_ENST00000547195.1_Missense_Mutation_p.A692T|MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|LYVE1_ENST00000531706.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog			22					TTGCTGTAGGCTTCTTCCTCC	0.562000																								0							SO:0001583	missense			ENST00000436272.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	29.5	5.011331	0.93346	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.38887	2.23;2.25;1.66;1.66;1.11;1.11;2.05;1.77;2.23;1.66	5.46	5.46	0.80206	.	0.062155	0.64402	D	0.000006	T	0.64271	0.2583	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.926;0.999;0.999;0.998	T	0.63902	-0.6532	10	0.56958	D	0.05	-11.5738	19.2738	0.94021	0.0:1.0:0.0:0.0	.	577;756;775;774	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	T	774;757;756;692;692;468;468;783;577;775;692	ENSP00000414598:A774T;ENSP00000412229:A756T;ENSP00000448278:A692T;ENSP00000446764:A692T;ENSP00000441971:A468T;ENSP00000401205:A468T;ENSP00000412130:A783T;ENSP00000437784:A577T;ENSP00000432436:A775T;ENSP00000432067:A692T	ENSP00000307885:A757T	A	-	1	0	MRVI1	10560003	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.505000	0.66981	2.720000	0.93068	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		1	0	0	76	275	0	86	0	1	0	137	0	86	2		0	0	0	0	0	2	1	1	76	273	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CWF19L2	143884	broad.mit.edu	37	11	107309826	107309826	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107309826C>T	ENST00000282251.5	-	6	681	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CWF19L2_ENST00000433523.1_Silent_p.S218S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)			40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)			CTTTAGTAATCGATGACACAC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000282251.5	1	1	hg19	CCDS8336.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	1	0	1	18	89	0	21	1	8.467845e-01	5	14	0	21	2		0	0	0	0	0	2	1	9.999857e-01	17	86	0	21	2								-20.000000	1	1	121408	2	32	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999671	0.990000	1	9.900000e-01	1
ELMOD1	55531	broad.mit.edu	37	11	107501173	107501173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107501173C>A	ENST00000265840.7	+	3	313	c.48C>A	c.(46-48)taC>taA	p.Y16*	ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y10*|ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1			19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)			TGTATTTTTACTGTAAATTTC	0.428000																								0							SO:0001587	stop_gained			ENST00000265840.7	0	1	hg19	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	C	37	6.384358	0.97524	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.47	2.56	0.30785	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8347	0.40963	0.0:0.7197:0.0:0.2803	.	.	.	.	X	10;16;16	.	ENSP00000265840:Y16X	Y	+	3	2	ELMOD1	107006383	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.393000	0.44442	0.272000	0.22027	0.655000	0.94253	TAC		TCGA-IB-7651-01A-11D-2154-08	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	1	0	0	10	44	0	19	0	4.135338e-02	0	2	0	19	2		0	0	0	0	0	2	1	9.975686e-01	10	43	0	18	2								-19.381460	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.997757	0.990000	1	9.900000e-01	1
ELMOD1	55531	broad.mit.edu	37	11	107535879	107535879	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107535879C>T	ENST00000265840.7	+	12	1226	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	ELMOD1_ENST00000531234.1_Silent_p.L315L|ELMOD1_ENST00000443271.2_Silent_p.L313L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1			19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)			AGACATGGCGCTGTGCCCACA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000265840.7	1	1	hg19	CCDS44723.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	1	0	1	129	561	0	152	0	0	0	1	0	152	2		0	0	0	0	0	2	1	1	127	548	1	152	16								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35F2	54733	broad.mit.edu	37	11	107682519	107682519	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107682519G>A	ENST00000525815.1	-	3	708	c.288C>T	c.(286-288)ggC>ggT	p.G96G	SLC35F2_ENST00000375682.4_Splice_Site_p.G49G|SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000525071.1_Splice_Site_p.G96G|SLC35F2_ENST00000429869.1_Splice_Site_p.G96G	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2			8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)			GGTTATCACTGCCTGGTTGAA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000525815.1	1	0	hg19	CCDS41709.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	1	0	1	87	421	0	111	0	8.594203e-01	0	19	0	111	2		0	0	0	0	0	2	1	1	86	415	0	110	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTR9	9646	broad.mit.edu	37	11	10772966	10772966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10772966C>T	ENST00000361367.2	+	1	433	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component			40					CATCATGTCGCGGGGCTCCAT	0.632000																								0							SO:0001583	missense			ENST00000361367.2	1	1	hg19	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	37	6.108579	0.97291	.	.	ENSG00000198730	ENST00000361367	T	0.48201	0.82	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	N	0.08118	0	0.80722	D	1	D	0.56287	0.975	B	0.39876	0.312	T	0.36890	-0.9729	10	0.72032	D	0.01	-13.286	18.1653	0.89723	0.0:1.0:0.0:0.0	.	3	Q6PD62	CTR9_HUMAN	W	3	ENSP00000355013:R3W	ENSP00000355013:R3W	R	+	1	2	CTR9	10729542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.805000	0.96524	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	1	0	1	36	136	0	31	1	1	28	90	0	31	2		0	0	0	0	0	2	1	1	35	135	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTR9	9646	broad.mit.edu	37	11	10783548	10783548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10783548C>T	ENST00000361367.2	+	7	1222	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component			40					TACTATTGATCCTAGCAACCC	0.328000																								0							SO:0001583	missense			ENST00000361367.2	1	1	hg19	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838796	0.32513	.	.	ENSG00000198730	ENST00000361367	T	0.54479	0.57	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	N	0.05619	-0.005	0.80722	D	1	B	0.24426	0.103	B	0.22753	0.041	T	0.12967	-1.0527	10	0.25106	T	0.35	-13.9099	18.239	0.89960	0.0:1.0:0.0:0.0	.	266	Q6PD62	CTR9_HUMAN	S	266	ENSP00000355013:P266S	ENSP00000355013:P266S	P	+	1	0	CTR9	10740124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.776000	0.68924	2.315000	0.78130	0.460000	0.39030	CCT		TCGA-IB-7651-01A-11D-2154-08	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	1	0	1	45	229	0	59	1	9.999939e-01	16	79	0	59	2		0	0	0	0	0	2	1	1	44	225	0	59	2								-3.351963	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CTR9	9646	broad.mit.edu	37	11	10789414	10789414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10789414C>A	ENST00000361367.2	+	14	2174	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component			40					GAATGGGGTCCTGGGCAGAAG	0.418000																								0							SO:0001583	missense			ENST00000361367.2	1	1	hg19	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807769	0.70797	.	.	ENSG00000198730	ENST00000361367	T	0.17528	2.27	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.55481	1.735	0.80722	D	1	P	0.45569	0.861	B	0.38500	0.275	T	0.01416	-1.1360	10	0.41790	T	0.15	-11.4677	19.5083	0.95130	0.0:1.0:0.0:0.0	.	583	Q6PD62	CTR9_HUMAN	H	583	ENSP00000355013:P583H	ENSP00000355013:P583H	P	+	2	0	CTR9	10745990	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.735000	0.84939	2.620000	0.88729	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	1	0	1	256	1030	0	317	1	1	46	99	0	317	2		0	0	0	0	0	2	1	1	248	999	0	315	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL5	8065	broad.mit.edu	37	11	107923465	107923465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107923465C>T	ENST00000393094.2	+	5	1106	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5			23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)			GAAGCTGGTACATGCTGAGAG	0.353000																								0							SO:0001583	missense			ENST00000393094.2	1	1	hg19	CCDS31668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159761|3.159761	0.57368|0.57368	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000393094|ENST00000532782	T|.	0.30448|.	1.53|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.71474|0.71474	-0.4582|-0.4582	10|5	0.59425|.	D|.	0.04|.	-15.6841|-15.6841	19.6572|19.6572	0.95847|0.95847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	164|.	Q93034|.	CUL5_HUMAN|.	Y|I	164|60	ENSP00000376808:H164Y|.	ENSP00000376808:H164Y|.	H|T	+|+	1|2	0|0	CUL5|CUL5	107428675|107428675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.786000|7.786000	0.85741|0.85741	2.651000|2.651000	0.90000|0.90000	0.549000|0.549000	0.68633|0.68633	CAT|ACA		TCGA-IB-7651-01A-11D-2154-08	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1	1	0	1	22	150	0	33	1	9.959556e-01	14	49	0	33	2		0	0	0	0	0	2	1	9.999992e-01	22	149	0	33	2								-11.663010	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.980000	1.000000	1.000000	0.997767	0.990000	1	9.900000e-01	1
CTR9	9646	broad.mit.edu	37	11	10793106	10793106	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10793106T>C	ENST00000361367.2	+	19	2813	c.2387T>C	c.(2386-2388)tTg>tCg	p.L796S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component			40					TTCAGTTATTTGAGTAAAGTG	0.328000																								0							SO:0001583	missense			ENST00000361367.2	1	1	hg19	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432723	0.83776	.	.	ENSG00000198730	ENST00000361367	T	0.60797	0.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.84111	0.0401	10	0.87932	D	0	-10.9708	15.8948	0.79326	0.0:0.0:0.0:1.0	.	796	Q6PD62	CTR9_HUMAN	S	796	ENSP00000355013:L796S	ENSP00000355013:L796S	L	+	2	0	CTR9	10749682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.928000	0.87587	2.219000	0.72066	0.528000	0.53228	TTG		TCGA-IB-7651-01A-11D-2154-08	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	1	0	1	128	571	0	122	1	1	58	115	0	122	2		0	0	0	0	0	2	1	1	127	560	0	122	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAT1	38	broad.mit.edu	37	11	108014709	108014709	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108014709G>T	ENST00000265838.4	+	10	1031		c.e10-1			NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1			10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Sulfasalazine(DB00795)	TTTTTAAACAGCATTTGCTGA	0.398000																								0							SO:0001630	splice_region_variant			ENST00000265838.4	1	0	hg19	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337248	0.60963	.	.	ENSG00000075239	ENST00000265838	.	.	.	5.47	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1592	0.65436	0.0722:0.0:0.9278:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACAT1	107519919	1.000000	0.71417	0.912000	0.35992	0.683000	0.39861	9.386000	0.97228	1.323000	0.45263	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	1	0	1	63	295	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	56	267	0	61	2								-3.285398	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAT1	38	broad.mit.edu	37	11	108016987	108016987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108016987C>T	ENST00000265838.4	+	11	1155	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1			10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Sulfasalazine(DB00795)	GTAAATGAAGCCTTTAGTCTG	0.343000																								0							SO:0001583	missense			ENST00000265838.4	1	1	hg19	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515935	0.96402	.	.	ENSG00000075239	ENST00000265838	D	0.96619	-4.07	5.86	5.86	0.93980	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98609	1.0662	10	0.87932	D	0	-6.009	20.1986	0.98248	0.0:1.0:0.0:0.0	.	355	P24752	THIL_HUMAN	V	355	ENSP00000265838:A355V	ENSP00000265838:A355V	A	+	2	0	ACAT1	107522197	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.584000	0.82572	2.781000	0.95711	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	1	0	0	27	604	0	171	1	9.981513e-01	15	202	0	171	2		0	0	0	0	0	2	1	9.999999e-01	27	595	0	171	2								-4.351529	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.510000	0.340000	1.000000	0.500000	0.536948	0.510000	0	4.200000e-01	6.300000e-01
ACAT1	38	broad.mit.edu	37	11	108018094	108018094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108018094G>A	ENST00000265838.4	+	12	1352	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1			10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Sulfasalazine(DB00795)	AGGTGCTTCTGCCATGCTAAT	0.478000																								0							SO:0001583	missense			ENST00000265838.4	1	1	hg19	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553242	0.86127	.	.	ENSG00000075239	ENST00000265838	D	0.95238	-3.65	5.57	5.57	0.84162	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.187217	0.47852	D	0.000220	D	0.95424	0.8514	M	0.68317	2.08	0.80722	D	1	P	0.42483	0.781	P	0.47673	0.554	D	0.95388	0.8479	10	0.66056	D	0.02	-18.7742	19.9215	0.97087	0.0:0.0:1.0:0.0	.	421	P24752	THIL_HUMAN	T	421	ENSP00000265838:A421T	ENSP00000265838:A421T	A	+	1	0	ACAT1	107523304	1.000000	0.71417	0.964000	0.40570	0.960000	0.62799	3.857000	0.55972	2.785000	0.95823	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	1	0	1	65	336	0	74	0	9.999999e-01	0	121	0	74	2		0	0	0	0	0	2	1	1	64	335	0	74	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPAT	4863	broad.mit.edu	37	11	108042973	108042973	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108042973T>C	ENST00000278612.8	-	13	2843	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus			46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)			AAATACACTGTTTGACCTTGG	0.403000																								0							SO:0001583	missense			ENST00000278612.8	1	1	hg19	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843028	0.16963	.	.	ENSG00000149308	ENST00000278612	T	0.04015	3.73	5.83	0.92	0.19397	.	0.310876	0.32952	N	0.005447	T	0.04452	0.0122	L	0.50919	1.6	0.24433	N	0.994562	B;B	0.20052	0.018;0.041	B;B	0.16722	0.016;0.011	T	0.39057	-0.9632	10	0.26408	T	0.33	-6.4258	5.5292	0.16974	0.1229:0.2474:0.0:0.6297	.	913;913	B9EG70;Q14207	.;NPAT_HUMAN	S	913	ENSP00000278612:N913S	ENSP00000278612:N913S	N	-	2	0	NPAT	107548183	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	0.607000	0.24209	0.113000	0.18004	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	1	0	1	147	741	0	191	1	9.975932e-01	11	36	0	191	2		0	0	0	0	0	2	1	1	146	726	0	191	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPAT	4863	broad.mit.edu	37	11	108043568	108043568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108043568G>A	ENST00000278612.8	-	13	2248	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus			46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)			TGGGACTCAGGGTGAGAATCT	0.438000																								0							SO:0001583	missense			ENST00000278612.8	1	1	hg19	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	0.996	-0.692611	0.03303	.	.	ENSG00000149308	ENST00000278612	T	0.04809	3.55	6.08	-1.87	0.07737	.	0.545184	0.20071	N	0.099871	T	0.04679	0.0127	M	0.61703	1.905	0.09310	N	1	B;B	0.18610	0.023;0.029	B;B	0.17433	0.007;0.018	T	0.32079	-0.9920	10	0.38643	T	0.18	-0.4422	3.389	0.07282	0.1734:0.2359:0.4498:0.1409	.	715;715	B9EG70;Q14207	.;NPAT_HUMAN	S	715	ENSP00000278612:P715S	ENSP00000278612:P715S	P	-	1	0	NPAT	107548778	0.001000	0.12720	0.004000	0.12327	0.033000	0.12548	-0.179000	0.09768	-0.035000	0.13691	-0.768000	0.03414	CCT		TCGA-IB-7651-01A-11D-2154-08	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	1	0	1	55	333	0	64	1	9.827774e-01	12	29	0	64	2		0	0	0	0	0	2	1	1	54	332	0	64	2								-19.999970	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NPAT	4863	broad.mit.edu	37	11	108044536	108044536	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108044536T>C	ENST00000278612.8	-	13	1280	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus			46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)			TGGGTCATCATTCTGATAGGA	0.398000																								0							SO:0001583	missense			ENST00000278612.8	1	1	hg19	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.698758	0.00725	.	.	ENSG00000149308	ENST00000278612	T	0.03951	3.75	5.67	1.76	0.24704	.	0.510538	0.20492	N	0.091278	T	0.02767	0.0083	L	0.36672	1.1	0.24006	N	0.99619	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.45279	-0.9272	10	0.06365	T	0.9	-14.1273	0.9102	0.01293	0.1478:0.1741:0.1959:0.4822	.	392;392	B9EG70;Q14207	.;NPAT_HUMAN	S	392	ENSP00000278612:N392S	ENSP00000278612:N392S	N	-	2	0	NPAT	107549746	1.000000	0.71417	0.985000	0.45067	0.020000	0.10135	0.889000	0.28282	0.517000	0.28361	0.528000	0.53228	AAT		TCGA-IB-7651-01A-11D-2154-08	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	1	0	1	41	290	0	71	0	9.233865e-01	1	32	0	71	2		0	0	0	0	0	2	1	1	40	289	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999606	0.990000	1	9.900000e-01	1
MUC2	4583	broad.mit.edu	37	11	1080508	1080508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1080508G>T	ENST00000441003.2	+	9	1177	c.1150G>T	c.(1150-1152)Gac>Tac	p.D384Y	MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming			102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		Pranlukast(DB01411)	GGTGTGCAAAGACCTGCCCTG	0.667000																								0							SO:0001583	missense			ENST00000441003.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.38	2.221035	0.39201	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.65178	-0.14;-0.14	4.25	4.25	0.50352	.	0.471651	0.19231	U	0.119405	T	0.73976	0.3656	M	0.80183	2.485	0.23611	N	0.997291	P	0.38800	0.648	P	0.47786	0.557	T	0.70285	-0.4914	10	0.87932	D	0	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	384	E7EUV1	.	Y	384	ENSP00000415183:D384Y;ENSP00000351956:D384Y	ENSP00000351956:D384Y	D	+	1	0	MUC2	1070508	0.992000	0.36948	0.858000	0.33744	0.944000	0.59088	4.831000	0.62752	2.219000	0.72066	0.491000	0.48974	GAC		TCGA-IB-7651-01A-11D-2154-08	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1	9	62	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.945574e-01	9	60	0	19	2								-16.493600	1	1	120222	1	27	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.750000	1.000000	1.000000	0.982064	0.990000	1	9.900000e-01	1
ATM	472	broad.mit.edu	37	11	108198454	108198454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108198454C>A	ENST00000452508.2	+	49	7247	c.7058C>A	c.(7057-7059)cCt>cAt	p.P2353H	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.P2353H			Q13315	ATM_HUMAN	ATM serine/threonine kinase			448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Caffeine(DB00201)	TTAGAAAATCCTGCGGTCATC	0.388000			D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0							SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	ENST00000452508.2	1	1	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915849	0.92178	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70986	-0.53;-0.53	5.3	5.3	0.74995	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86843	0.2018	10	0.87932	D	0	.	18.9553	0.92657	0.0:1.0:0.0:0.0	.	2353	Q13315	ATM_HUMAN	H	2353	ENSP00000278616:P2353H;ENSP00000388058:P2353H	ENSP00000278616:P2353H	P	+	2	0	ATM	107703664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.474000	0.83562	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1	37	174	0	35	1	9.991534e-01	14	39	0	35	2	1	1	108	536	0	514	2	1	1	37	171	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ATM	472	broad.mit.edu	37	11	108201008	108201008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108201008C>T	ENST00000452508.2	+	51	7564	c.7375C>T	c.(7375-7377)Cgt>Tgt	p.R2459C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2459C			Q13315	ATM_HUMAN	ATM serine/threonine kinase			448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Caffeine(DB00201)	GAAAGAGGATCGTAAACGCTT	0.393000			D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0							SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	ENST00000452508.2	1	1	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749141	0.69533	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83591	-1.74;-1.74	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.048185	0.85682	D	0.000000	D	0.89694	0.6789	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90611	0.4552	10	0.87932	D	0	.	12.1357	0.53970	0.1713:0.8287:0.0:0.0	.	2459	Q13315	ATM_HUMAN	C	2459	ENSP00000278616:R2459C;ENSP00000388058:R2459C	ENSP00000278616:R2459C	R	+	1	0	ATM	107706218	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.303000	0.33470	2.293000	0.77203	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1	74	308	0	72	1	9.974458e-01	6	34	0	72	2	1	9.998432e-01	12	44	0	60	2	1	1	74	298	0	71	2								-20.000000	1	1	121412	4	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATM	472	broad.mit.edu	37	11	108214019	108214019	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108214019T>G	ENST00000452508.2	+	58	8528	c.8339T>G	c.(8338-8340)cTt>cGt	p.L2780R	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2780R			Q13315	ATM_HUMAN	ATM serine/threonine kinase			448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Caffeine(DB00201)	GGTGAATTTCTTGTTAACAAT	0.403000			D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0							SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	ENST00000452508.2	1	1	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854269	0.91355	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82167	-1.58;-1.58	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	15.9974	0.80262	0.0:0.0:0.0:1.0	.	2780	Q13315	ATM_HUMAN	R	2780	ENSP00000278616:L2780R;ENSP00000388058:L2780R	ENSP00000278616:L2780R	L	+	2	0	ATM	107719229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.720000	0.84759	2.242000	0.73789	0.459000	0.35465	CTT		TCGA-IB-7651-01A-11D-2154-08	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1	136	605	0	122	1	9.992711e-01	14	35	0	122	2	1	1	95	514	0	519	2	1	1	134	598	0	121	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATM	472	broad.mit.edu	37	11	108225552	108225552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108225552C>T	ENST00000452508.2	+	62	8990	c.8801C>T	c.(8800-8802)aCc>aTc	p.T2934I	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2934I|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase			448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Caffeine(DB00201)	TGTGAGAAAACCATGGAAGTG	0.338000			D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0							SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	ENST00000452508.2	1	1	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033991	0.93575	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73363	-0.74;-0.74	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87184	0.6114	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86991	0.2110	10	0.54805	T	0.06	.	19.8745	0.96864	0.0:1.0:0.0:0.0	.	2934	Q13315	ATM_HUMAN	I	2934	ENSP00000278616:T2934I;ENSP00000388058:T2934I	ENSP00000278616:T2934I	T	+	2	0	ATM	107730762	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.789000	0.85783	2.704000	0.92352	0.467000	0.42956	ACC		TCGA-IB-7651-01A-11D-2154-08	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1	92	523	0	120	1	9.997850e-01	13	58	0	120	2	1	1	98	549	0	530	2	1	1	90	518	0	118	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4G2	1982	broad.mit.edu	37	11	10823295	10823295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10823295C>T	ENST00000526148.1	-	14	1836	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.Q442Q|EIF4G2_ENST00000525681.1_Silent_p.Q442Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Intron	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2	p.Q442H(1)		43					GTCCCTGACTCTGGTTATGGT	0.438000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000526148.1	1	1	hg19	CCDS31428.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	1	0	1	74	372	0	95	1	1	324	1168	0	95	2		0	0	0	0	0	2	1	1	73	362	0	95	2								-2.895736	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDELC2	143888	broad.mit.edu	37	11	108356977	108356977	+	Silent	SNP	C	C	T	rs145604569	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108356977C>T	ENST00000323468.5	-	3	656	c.591G>A	c.(589-591)acG>acA	p.T197T	KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000434945.2_Silent_p.T141T|KDELC2_ENST00000375648.1_Silent_p.T141T	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2			13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)			TATTGAGAATCGTGTAATGAA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000323468.5	1	0	hg19	CCDS41711.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	1	0	1	95	434	0	118	1	1	11	134	0	118	2		0	0	0	0	0	2	1	1	94	423	0	117	2								-3.211046	1	1	120812	87	53	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXPH5	23086	broad.mit.edu	37	11	108382146	108382146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108382146G>T	ENST00000265843.4	-	6	4198	c.4088C>A	c.(4087-4089)gCt>gAt	p.A1363D	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D|EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5			91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)			AATCTCTCTAGCTTTAGATTC	0.413000																								0							SO:0001583	missense			ENST00000265843.4	1	1	hg19	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090475	0.36855	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04406	4.17;4.09;3.94;4.17;4.01;3.63	5.68	2.77	0.32553	.	0.962804	0.08651	N	0.914056	T	0.04861	0.0131	N	0.22421	0.69	0.09310	N	1	B	0.30973	0.302	B	0.36186	0.219	T	0.50004	-0.8878	10	0.30078	T	0.28	-0.0054	7.8658	0.29537	0.1439:0.1312:0.7249:0.0	.	1363	Q8NEV8	EXPH5_HUMAN	D	1363;1287;1175;1356;1287;1175	ENSP00000265843:A1363D;ENSP00000391966:A1287D;ENSP00000411390:A1175D;ENSP00000432546:A1356D;ENSP00000432683:A1287D;ENSP00000446434:A1175D	ENSP00000265843:A1363D	A	-	2	0	EXPH5	107887356	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.987000	0.29603	0.411000	0.25702	-0.216000	0.12614	GCT		TCGA-IB-7651-01A-11D-2154-08	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	1	0	0	14	204	0	42	0	4.936240e-03	1	1	0	42	2		0	0	0	0	0	2	1	9.997538e-01	14	200	0	42	2								-18.001260	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.770000	0.440000	1.000000	1.000000	0.779636	0.770000	0	5.900000e-01	1
EXPH5	23086	broad.mit.edu	37	11	108383192	108383192	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108383192T>C	ENST00000265843.4	-	6	3152	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Silent_p.E826E|EXPH5_ENST00000428840.1_Silent_p.E938E|EXPH5_ENST00000525344.1_Silent_p.E1007E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5			91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)			TTGTGTCAAGTTCAGAAACTT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000265843.4	1	1	hg19	CCDS8341.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	1	0	1	67	283	0	68	0	9.834863e-02	0	3	0	68	2		0	0	0	0	0	2	1	1	67	278	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX10	1662	broad.mit.edu	37	11	108586668	108586668	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108586668A>C	ENST00000322536.3	+	11	1514	c.1385A>C	c.(1384-1386)cAa>cCa	p.Q462P	DDX10_ENST00000526794.1_Missense_Mutation_p.Q462P	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)			GCTCAAGATCAAGATTTAAAA	0.289000			T	NUP98	AML*										Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0							SO:0001583	missense			ENST00000322536.3	1	1	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779047	0.31502	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.38887	1.12;1.11	6.04	2.42	0.29668	.	0.215941	0.48767	D	0.000166	T	0.17662	0.0424	N	0.03071	-0.42	0.44539	D	0.997495	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.04961	-1.0915	10	0.23891	T	0.37	-2.9721	9.8661	0.41145	0.8031:0.0:0.1969:0.0	.	462;462	Q13206;E9PIF2	DDX10_HUMAN;.	P	462;368;462	ENSP00000314348:Q462P;ENSP00000432032:Q462P	ENSP00000314348:Q462P	Q	+	2	0	DDX10	108091878	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.048000	0.49862	0.162000	0.19483	0.528000	0.53228	CAA		TCGA-IB-7651-01A-11D-2154-08	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	1	0	1	18	76	0	47	1	9.754242e-01	12	17	0	47	2		0	0	0	0	0	2	1	9.999910e-01	18	76	0	47	2								-13.454500	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999894	0.990000	1	9.900000e-01	1
DDX10	1662	broad.mit.edu	37	11	108593877	108593877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108593877C>A	ENST00000322536.3	+	13	1782	c.1653C>A	c.(1651-1653)taC>taA	p.Y551*	DDX10_ENST00000526794.1_Nonsense_Mutation_p.Y551*	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)			TTAGAGCCTACTTCAATGAGA	0.438000			T	NUP98	AML*										Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0							SO:0001587	stop_gained			ENST00000322536.3	0	1	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	C	37	5.993494	0.97184	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	.	.	.	4.9	-1.34	0.09143	.	0.632853	0.16915	N	0.194340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-3.0433	5.9796	0.19399	0.0:0.4737:0.1559:0.3705	.	.	.	.	X	551;457;551	.	ENSP00000314348:Y551X	Y	+	3	2	DDX10	108099087	0.936000	0.31750	0.987000	0.45799	0.852000	0.48524	0.575000	0.23729	-0.070000	0.12908	0.484000	0.47621	TAC		TCGA-IB-7651-01A-11D-2154-08	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	1	0	1	39	175	0	44	1	9.998974e-01	2	64	0	44	2		0	0	0	0	0	2	1	1	39	173	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC2	4583	broad.mit.edu	37	11	1086426	1086426	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1086426C>T	ENST00000441003.2	+	23	3162	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	MUC2_ENST00000359061.5_Silent_p.S1045S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming			102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		Pranlukast(DB01411)	ACCGCCGCTCCTGGGCCGAGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000441003.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1	20	94	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999971e-01	20	92	0	16	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999875	0.990000	1	9.900000e-01	1
DDX10	1662	broad.mit.edu	37	11	108709201	108709201	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108709201A>G	ENST00000322536.3	+	14	2123	c.1994A>G	c.(1993-1995)aAg>aGg	p.K665R	DDX10_ENST00000526794.1_Missense_Mutation_p.K665R	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)			TCCAGCATCAAGAAAAAAATG	0.323000			T	NUP98	AML*										Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0							SO:0001583	missense			ENST00000322536.3	1	1	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538758	0.65085	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.46819	0.86;0.87	5.72	5.72	0.89469	.	0.243433	0.35615	N	0.003099	T	0.56558	0.1993	M	0.64404	1.975	0.45318	D	0.998318	D;P	0.56521	0.976;0.877	P;B	0.52598	0.703;0.197	T	0.58584	-0.7611	10	0.48119	T	0.1	-11.3921	13.3722	0.60719	1.0:0.0:0.0:0.0	.	665;665	Q13206;E9PIF2	DDX10_HUMAN;.	R	665;571;665	ENSP00000314348:K665R;ENSP00000432032:K665R	ENSP00000314348:K665R	K	+	2	0	DDX10	108214411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.130000	0.57964	2.176000	0.68965	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	1	0	1	63	259	0	79	0	9.999528e-01	1	62	0	79	2		0	0	0	0	0	2	1	1	62	253	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC2	4583	broad.mit.edu	37	11	1092185	1092185	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1092185A>G	ENST00000441003.2	+	30	4031	c.4004A>G	c.(4003-4005)gAc>gGc	p.D1335G	MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G|MUC2_ENST00000361558.6_Missense_Mutation_p.D1G|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming			102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		Pranlukast(DB01411)	GCCCCTGAGGACATCGAGTGC	0.572000																								0							SO:0001583	missense			ENST00000441003.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	a	10.11	1.261494	0.23051	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000361558	T;T;T	0.18960	2.4;2.18;2.18	3.03	0.12	0.14691	.	37.455900	0.00839	U	0.001722	T	0.18215	0.0437	L	0.31420	0.93	0.09310	N	1	B	0.28584	0.216	B	0.32289	0.143	T	0.26710	-1.0095	10	0.19147	T	0.46	.	9.2973	0.37824	0.6552:0.3447:0.0:0.0	.	1335	E7EUV1	.	G	1335;1336;1	ENSP00000415183:D1335G;ENSP00000351956:D1336G;ENSP00000354885:D1G	ENSP00000351956:D1336G	D	+	2	0	MUC2	1082185	0.756000	0.28383	0.004000	0.12327	0.108000	0.19459	4.169000	0.58223	0.249000	0.21456	0.382000	0.24955	GAC		TCGA-IB-7651-01A-11D-2154-08	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1	25	125	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999999e-01	24	124	0	26	2								-15.144060	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
C11orf87	399947	broad.mit.edu	37	11	109294503	109294503	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:109294503G>T	ENST00000327419.6	+	2	547	c.144G>T	c.(142-144)acG>acT	p.T48T	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87			17					CCTGCATCACGCAGGTGGGAC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000327419.6	1	1	hg19	CCDS31672.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	1	0	0	23	225	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.999995e-01	23	223	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.720000	1.000000	1.000000	0.962992	0.990000	1	8.900000e-01	1
ZC3H12C	85463	broad.mit.edu	37	11	110007429	110007429	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110007429C>T	ENST00000278590.3	+	2	114	c.63C>T	c.(61-63)agC>agT	p.S21S	ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000528673.1_Silent_p.S22S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C			37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			GAAAAAACAGCAAAGTGGAGT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000278590.3	1	1	hg19	CCDS44727.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	0	0	0	13	310	0	60	0	8.151244e-02	0	11	0	60	2		0	0	0	0	0	2	1	9.995121e-01	13	305	0	60	2								-13.763530	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.490000	0.270000	1.000000	0.470000	0.520340	0.490000	0	3.700000e-01	6.500000e-01
ZC3H12C	85463	broad.mit.edu	37	11	110035963	110035963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110035963G>A	ENST00000278590.3	+	6	2204	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R687Q|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R719Q	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C			37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			GTGGGCGCCCGGTCCAGCTGT	0.592000																								0							SO:0001583	missense			ENST00000278590.3	1	1	hg19	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909367	0.92107	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.37584	1.19;1.19;1.21	5.94	5.94	0.96194	.	0.249928	0.40144	N	0.001167	T	0.60932	0.2307	M	0.68593	2.085	0.43703	D	0.996161	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.978;0.978;0.978	T	0.55617	-0.8113	10	0.44086	T	0.13	-20.721	20.3591	0.98849	0.0:0.0:1.0:0.0	.	719;718;718	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	Q	718;719;687	ENSP00000278590:R718Q;ENSP00000431821:R719Q;ENSP00000413094:R687Q	ENSP00000278590:R718Q	R	+	2	0	ZC3H12C	109541173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.331000	0.72929	2.816000	0.96949	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	0	0	1	243	1031	1	220	0	4.702433e-01	0	8	1	220	2		0	0	0	0	0	2	1	1	236	1009	0	217	2								-3.178719	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RDX	5962	broad.mit.edu	37	11	110124728	110124728	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110124728T>C	ENST00000343115.4	-	9	1221	c.902A>G	c.(901-903)gAa>gGa	p.E301G	RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000405097.1_Missense_Mutation_p.E301G|RDX_ENST00000528498.1_Missense_Mutation_p.E301G|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin			18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			CTGTTGTACTTCAATAGTATC	0.418000													Esophageal Squamous(55;25 1062 11040 28755 44273)											0							SO:0001583	missense			ENST00000343115.4	1	1	hg19	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661312	0.67700	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.974	D	0.94672	0.7857	10	0.87932	D	0	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	165;301;301	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	G	301;301;301;301;165	ENSP00000432112:E301G;ENSP00000384136:E301G;ENSP00000342830:E301G;ENSP00000445826:E165G	ENSP00000342830:E301G	E	-	2	0	RDX	109629938	1.000000	0.71417	0.689000	0.30133	0.065000	0.16274	7.986000	0.88173	2.184000	0.69523	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	1	0	1	66	316	0	69	1	1	23	135	0	69	2		0	0	0	0	0	2	1	1	65	310	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RDX	5962	broad.mit.edu	37	11	110128544	110128544	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110128544A>C	ENST00000343115.4	-	7	965	c.646T>G	c.(646-648)Ttg>Gtg	p.L216V	RDX_ENST00000544551.1_Missense_Mutation_p.L80V|RDX_ENST00000405097.1_Missense_Mutation_p.L216V|RDX_ENST00000528498.1_Missense_Mutation_p.L216V|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin			18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			CCTAGCCACAATTCAGTTCCT	0.348000													Esophageal Squamous(55;25 1062 11040 28755 44273)											0							SO:0001583	missense			ENST00000343115.4	1	1	hg19	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871122	0.51695	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551;ENST00000534683	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.32	1.79	0.24919	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	D	0.91019	0.7175	L	0.56124	1.755	0.58432	D	0.999992	B;D;B	0.67145	0.129;0.996;0.037	B;D;P	0.91635	0.099;0.999;0.461	D	0.87955	0.2726	10	0.52906	T	0.07	.	8.0771	0.30722	0.6908:0.0:0.3092:0.0	.	80;216;216	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	V	216;216;216;216;80;35	ENSP00000432112:L216V;ENSP00000384136:L216V;ENSP00000342830:L216V;ENSP00000445826:L80V;ENSP00000431560:L35V	ENSP00000342830:L216V	L	-	1	2	RDX	109633754	0.982000	0.34865	0.995000	0.50966	0.988000	0.76386	1.566000	0.36396	0.056000	0.16144	-0.280000	0.10049	TTG		TCGA-IB-7651-01A-11D-2154-08	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	1	0	1	112	454	0	127	1	1	27	126	0	127	2		0	0	0	0	0	2	1	1	110	447	0	127	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC2	4583	broad.mit.edu	37	11	1102483	1102483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1102483G>A	ENST00000441003.2	+	45	7894	c.7867G>A	c.(7867-7869)Gag>Aag	p.E2623K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming			102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		Pranlukast(DB01411)	GGCCCCCGGGGAGTGCTGTAA	0.607000																								0							SO:0001583	missense			ENST00000441003.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.631	0.117264	0.08881	.	.	ENSG00000198788	ENST00000441003	T	0.66815	-0.23	3.78	1.65	0.23941	.	.	.	.	.	T	0.62708	0.2450	M	0.76574	2.34	0.19300	N	0.999975	P	0.47762	0.9	B	0.39419	0.299	T	0.53415	-0.8442	9	0.25751	T	0.34	.	11.85	0.52405	0.0:0.3331:0.6669:0.0	.	2623	E7EUV1	.	K	2623	ENSP00000415183:E2623K	ENSP00000415183:E2623K	E	+	1	0	MUC2	1092483	0.986000	0.35501	0.015000	0.15790	0.025000	0.11179	1.857000	0.39399	0.676000	0.31285	-0.304000	0.09214	GAG		TCGA-IB-7651-01A-11D-2154-08	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1	12	104	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.992468e-01	12	103	0	26	2								-18.707520	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.680000	1.000000	1.000000	0.966258	0.990000	1	9.200000e-01	1
FDX1	2230	broad.mit.edu	37	11	110327671	110327671	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110327671A>G	ENST00000260270.2	+	3	578	c.340A>G	c.(340-342)Acc>Gcc	p.T114A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1			2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Mitotane(DB00648)	GGCTTGTTCAACCTGTCACCT	0.438000																								0							SO:0001583	missense			ENST00000260270.2	1	1	hg19	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409904	0.83340	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	5.46	0.80206	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92310	0.5857	9	0.87932	D	0	.	15.2051	0.73173	1.0:0.0:0.0:0.0	.	114	P10109	ADX_HUMAN	A	114	.	ENSP00000260270:T114A	T	+	1	0	FDX1	109832881	1.000000	0.71417	0.868000	0.34077	0.741000	0.42261	7.136000	0.77285	2.075000	0.62263	0.459000	0.35465	ACC		TCGA-IB-7651-01A-11D-2154-08	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	1	0	1	206	896	0	183	1	1	73	199	0	183	2		0	0	0	0	0	2	1	1	200	863	0	182	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC2	4583	broad.mit.edu	37	11	1104196	1104196	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1104196T>C	ENST00000441003.2	+	49	8414	c.8387T>C	c.(8386-8388)gTc>gCc	p.V2796A		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming			102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		Pranlukast(DB01411)	CAGGACACCGTCTGCGGGCTC	0.701000																								0							SO:0001583	missense			ENST00000441003.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	6.582	0.475700	0.12521	.	.	ENSG00000198788	ENST00000441003	T	0.11169	2.8	3.1	-6.21	0.02065	.	.	.	.	.	T	0.04497	0.0123	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	9	0.08599	T	0.76	.	7.2697	0.26250	0.2047:0.5492:0.0:0.2461	.	2796	E7EUV1	.	A	2796	ENSP00000415183:V2796A	ENSP00000415183:V2796A	V	+	2	0	MUC2	1094196	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.973000	0.01500	-1.574000	0.01657	-0.589000	0.04120	GTC		TCGA-IB-7651-01A-11D-2154-08	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1	23	99	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	9.999996e-01	22	97	0	28	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
ARHGAP20	57569	broad.mit.edu	37	11	110451031	110451031	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110451031C>A	ENST00000260283.4	-	16	2923	c.2639G>T	c.(2638-2640)gGa>gTa	p.G880V	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20			60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			ATCCTCCTCTCCATGCAAGAG	0.453000																								0							SO:0001583	missense			ENST00000260283.4	1	1	hg19	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118057	0.37339	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08984	3.03;3.04;3.07;3.03;3.04;3.04;3.04	5.14	2.18	0.27775	.	0.614672	0.15386	N	0.265082	T	0.16599	0.0399	M	0.65975	2.015	0.22001	N	0.999421	D;D;D	0.69078	0.997;0.996;0.997	D;P;D	0.64595	0.927;0.847;0.927	T	0.17837	-1.0356	10	0.27082	T	0.32	.	1.1436	0.01770	0.1462:0.3626:0.1419:0.3493	.	854;880;857	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	880;854;423;857;844;854;844	ENSP00000260283:G880V;ENSP00000349660:G854V;ENSP00000437905:G423V;ENSP00000432076:G857V;ENSP00000436319:G844V;ENSP00000436522:G854V;ENSP00000431399:G844V	ENSP00000260283:G880V	G	-	2	0	ARHGAP20	109956241	0.065000	0.20965	0.069000	0.20011	0.962000	0.63368	0.363000	0.20301	0.304000	0.22809	-1.105000	0.02106	GGA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	1	0	1	168	639	0	130	0	3.651748e-01	0	6	0	130	2		0	0	0	0	0	2	1	1	166	631	0	127	2								-3.790286	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP20	57569	broad.mit.edu	37	11	110454328	110454328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110454328T>C	ENST00000260283.4	-	14	1833	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20			60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			GGCCAAAGAATACTTGGAGCG	0.418000																								0							SO:0001583	missense			ENST00000260283.4	1	1	hg19	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435130	0.43224	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.47528	0.84;0.84;1.85;0.84;0.84;0.84;0.84	5.78	0.592	0.17471	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.330773	0.30043	N	0.010550	T	0.42154	0.1190	L	0.46819	1.47	0.27901	N	0.938968	B;B;B	0.33044	0.395;0.281;0.238	B;B;B	0.43360	0.293;0.417;0.341	T	0.40924	-0.9537	10	0.59425	D	0.04	.	3.8261	0.08855	0.1027:0.1344:0.444:0.3189	.	491;517;494	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	V	517;491;60;494;481;491;481	ENSP00000260283:I517V;ENSP00000349660:I491V;ENSP00000437905:I60V;ENSP00000432076:I494V;ENSP00000436319:I481V;ENSP00000436522:I491V;ENSP00000431399:I481V	ENSP00000260283:I517V	I	-	1	0	ARHGAP20	109959538	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	0.963000	0.29293	-0.073000	0.12842	-0.326000	0.08463	ATT		TCGA-IB-7651-01A-11D-2154-08	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	1	0	1	38	150	0	23	0	1.904789e-01	0	4	0	23	2		0	0	0	0	0	2	1	1	37	145	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP20	57569	broad.mit.edu	37	11	110501445	110501445	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110501445G>A	ENST00000260283.4	-	4	543	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ARHGAP20_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000524756.1_Silent_p.L64L|ARHGAP20_ENST00000357139.3_Silent_p.L61L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20			60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			CCATCAATCAGCAGAGTCCTA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000260283.4	1	1	hg19	CCDS31673.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	1	0	1	84	402	0	94	0	8.040549e-02	0	3	0	94	2		0	0	0	0	0	2	1	1	82	395	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C11orf88	399949	broad.mit.edu	37	11	111385713	111385713	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111385713G>T	ENST00000375618.4	+	1	204	c.204G>T	c.(202-204)cgG>cgT	p.R68R	C11orf88_ENST00000332814.6_Silent_p.R68R|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000529167.1_Silent_p.R68R|BTG4_ENST00000356018.2_5'Flank|BTG4_ENST00000525791.1_5'Flank|MIR34B_ENST00000385076.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88			6					CGGTGGCGCGGCCCAGGAGGA	0.602000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000375618.4	1	1	hg19	CCDS41713.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	1	0	1	47	210	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	45	208	0	54	2								-3.452364	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIK2	23235	broad.mit.edu	37	11	111574013	111574013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111574013C>A	ENST00000304987.3	+	7	987	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2			30					TAAATGGATGCTCATAGAAGT	0.463000																								0							SO:0001583	missense			ENST00000304987.3	1	1	hg19	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250836	0.39797	.	.	ENSG00000170145	ENST00000304987	T	0.25250	1.81	5.57	4.65	0.58169	Protein kinase-like domain (1);	0.215894	0.42548	D	0.000682	T	0.16685	0.0401	L	0.40543	1.245	0.43091	D	0.994769	B	0.33135	0.399	B	0.25614	0.062	T	0.04427	-1.0952	10	0.22109	T	0.4	.	8.6612	0.34093	0.1483:0.7728:0.0:0.0789	.	272	Q9H0K1	SIK2_HUMAN	I	272	ENSP00000305976:L272I	ENSP00000305976:L272I	L	+	1	0	SIK2	111079223	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	1.535000	0.36061	2.627000	0.88993	0.557000	0.71058	CTC		TCGA-IB-7651-01A-11D-2154-08	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	1	0	1	61	222	0	70	1	9.998849e-01	8	44	0	70	2		0	0	0	0	0	2	1	1	61	222	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R1B	5519	broad.mit.edu	37	11	111614190	111614190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111614190C>A	ENST00000527614.1	-	12	1529	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta			22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			TTTGGGCCCACTCTGTACCAA	0.388000																								0							SO:0001583	missense			ENST00000527614.1	1	1	hg19	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860498	0.32884	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	6.02	-0.582	0.11709	Armadillo-like helical (1);Armadillo-type fold (1);	0.231591	0.45867	N	0.000338	T	0.15998	0.0385	N	0.20881	0.62	0.40696	D	0.982447	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.008;0.005;0.0;0.0;0.0;0.001	T	0.09443	-1.0674	10	0.19590	T	0.45	-8.1876	1.1121	0.01706	0.132:0.3117:0.2574:0.299	.	361;443;327;424;488;488	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	D	488;361;424;488;327;443;361	ENSP00000311344:E488D;ENSP00000410671:E424D;ENSP00000437193:E488D;ENSP00000415759:E327D;ENSP00000343317:E443D;ENSP00000376775:E361D	ENSP00000311344:E488D	E	-	3	2	PPP2R1B	111119400	0.976000	0.34144	0.996000	0.52242	0.998000	0.95712	0.166000	0.16583	-0.066000	0.12998	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	1	0	1	100	473	0	129	1	9.999734e-01	17	56	0	129	2		0	0	0	0	0	2	1	1	99	460	0	128	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R1B	5519	broad.mit.edu	37	11	111622994	111622994	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111622994G>A	ENST00000527614.1	-	10	1292	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	PPP2R1B_ENST00000393055.2_Silent_p.I282I|PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000341980.6_Silent_p.I364I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta			22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			AGAGCTGACGGATTCCAATCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000527614.1	1	1	hg19	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.216002	0.22373	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.57	3.7	0.42460	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-5.2892	10.441	0.44466	0.1598:0.0:0.8402:0.0	.	.	.	.	S	110	.	.	P	-	1	0	PPP2R1B	111128204	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.189000	0.42621	0.818000	0.34468	-0.149000	0.13747	CCG		TCGA-IB-7651-01A-11D-2154-08	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	1	0	1	104	411	0	118	1	9.999847e-01	18	47	0	118	2		0	0	0	0	0	2	1	1	100	403	0	118	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALG9	79796	broad.mit.edu	37	11	111711410	111711410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111711410G>A	ENST00000531154.1	-	10	1100	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.L210F|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase			16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			GCGCCACAGAGACATATAAGT	0.393000																								0							SO:0001583	missense			ENST00000531154.1	1	1	hg19	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118509	0.94385	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.69926	-0.44;-0.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.75085	2.285	0.80722	D	1	D;D;D;P	0.89917	1.0;0.981;1.0;0.937	D;D;D;P	0.87578	0.998;0.948;0.994;0.896	T	0.82975	-0.0190	10	0.56958	D	0.05	-18.0339	19.5951	0.95533	0.0:0.0:1.0:0.0	.	210;381;614;381	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	F	210;210;614	ENSP00000435517:L210F;ENSP00000381090:L210F	ENSP00000381090:L210F	L	-	1	0	ALG9	111216620	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.813000	0.99286	2.705000	0.92388	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	1	0	1	96	392	0	121	1	9.999997e-01	22	68	0	121	2		0	0	0	0	0	2	1	1	95	382	0	120	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALG9	79796	broad.mit.edu	37	11	111724395	111724395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111724395G>A	ENST00000531154.1	-	7	725	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Silent_p.L85L|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase			16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			AGGGCCATCAGCGACCAATGA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000531154.1	1	1	hg19	CCDS41714.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	1	0	1	56	302	0	106	1	9.989943e-01	9	49	0	106	2		0	0	0	0	0	2	1	1	53	292	0	106	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C11orf1	64776	broad.mit.edu	37	11	111753104	111753104	+	Missense_Mutation	SNP	G	G	A	rs139660891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111753104G>A	ENST00000260276.3	+	2	395	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	C11orf1_ENST00000530214.1_Missense_Mutation_p.A20T|C11orf1_ENST00000528125.1_5'UTR|ALG9_ENST00000524880.1_5'Flank|C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1			5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)			ACAGAACCTCGCCTGTTTCCT	0.428000																								0							SO:0001583	missense			ENST00000260276.3	1	1	hg19	CCDS8350.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375681	0.42105	2.27E-4	1.16E-4	ENSG00000137720	ENST00000260276;ENST00000530214;ENST00000530799;ENST00000529270	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.33	-5.8	0.02347	.	1.066680	0.07277	N	0.870122	T	0.10208	0.0250	N	0.16478	0.41	0.09310	N	1	B;B	0.22346	0.068;0.004	B;B	0.15484	0.013;0.002	T	0.29305	-1.0016	10	0.24483	T	0.36	3.966	1.2162	0.01915	0.361:0.0899:0.1949:0.3542	.	60;20	E9PMC1;Q9H5F2	.;CK001_HUMAN	T	20;20;36;60	ENSP00000260276:A20T;ENSP00000435864:A20T;ENSP00000432128:A36T;ENSP00000431180:A60T	ENSP00000260276:A20T	A	+	1	0	C11orf1	111258314	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	-1.306000	0.02735	-0.812000	0.04363	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	1	0	1	46	201	0	68	1	9.999999e-01	44	73	0	68	2		0	0	0	0	0	2	1	1	44	196	0	66	2								-20.000000	1	1	121412	8	38	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIXDC1	85458	broad.mit.edu	37	11	111866132	111866132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866132C>T	ENST00000440460.2	+	17	1827	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	DIXDC1_ENST00000315253.5_Silent_p.S299S|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1			17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			CACAGACCAGCGACCTGCAGC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000440460.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	47	233	0	62	1	9.962231e-01	2	43	0	62	2		0	0	0	0	0	2	1	1	46	226	0	62	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIXDC1	85458	broad.mit.edu	37	11	111866170	111866170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866170G>A	ENST00000440460.2	+	17	1865	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1			17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			CGCAGCCTGCGCAACAGCTTC	0.572000																								0							SO:0001583	missense			ENST00000440460.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.706164	0.96812	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.25749	1.78;1.78	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.54702	-0.8254	9	0.52906	T	0.07	-37.8064	19.8479	0.96722	0.0:0.0:1.0:0.0	.	189;312;524	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	H	523;312	ENSP00000394352:R523H;ENSP00000314068:R312H	ENSP00000314068:R312H	R	+	2	0	DIXDC1	111371380	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.205000	0.95048	2.681000	0.91329	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	53	272	0	66	1	9.896997e-01	2	37	0	66	2		0	0	0	0	0	2	1	1	52	266	0	66	2								-20.000000	1	0	121144	1	26	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLAT	1737	broad.mit.edu	37	11	111899614	111899614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111899614C>T	ENST00000280346.6	+	4	1264	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.S202L	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase			22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)			GCCACTGCTTCGCCACCTACA	0.532000																								0							SO:0001583	missense			ENST00000280346.6	1	1	hg19	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	6.901	0.535718	0.13188	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.16897	2.31;2.41	5.4	2.49	0.30216	.	1.048000	0.07534	N	0.912785	T	0.12860	0.0312	N	0.22421	0.69	0.18873	N	0.999988	B;B	0.22541	0.071;0.002	B;B	0.11329	0.006;0.0	T	0.32375	-0.9909	10	0.31617	T	0.26	2.3041	10.952	0.47334	0.0:0.7928:0.0:0.2072	.	202;202	E9PEJ4;P10515	.;ODP2_HUMAN	L	202;170;202	ENSP00000280346:S202L;ENSP00000376771:S202L	ENSP00000280346:S202L	S	+	2	0	DLAT	111404824	0.173000	0.23056	0.000000	0.03702	0.050000	0.14768	2.911000	0.48774	0.660000	0.30964	-0.225000	0.12378	TCG		TCGA-IB-7651-01A-11D-2154-08	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	1	0	1	125	464	0	124	0	1	1	111	0	124	2		0	0	0	0	0	2	1	1	122	451	0	123	2								-3.978651	1	1	121412	3	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLAT	1737	broad.mit.edu	37	11	111910001	111910001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111910001G>A	ENST00000280346.6	+	7	1668	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	DLAT_ENST00000537636.1_Missense_Mutation_p.A108T|DLAT_ENST00000393051.1_Missense_Mutation_p.A232T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase			22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)			CCAGCCTTTAGCTCCTACACC	0.453000																								0							SO:0001583	missense			ENST00000280346.6	1	1	hg19	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622404	0.28889	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.26810	2.07;2.24;2.11;1.71	6.17	-2.07	0.07276	.	0.647368	0.16044	N	0.232293	T	0.11879	0.0289	N	0.24115	0.695	0.09310	N	0.999997	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.15235	-1.0444	10	0.35671	T	0.21	0.4748	2.7461	0.05268	0.2279:0.2008:0.468:0.1033	.	337;232;337	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	T	337;232;169;108	ENSP00000280346:A337T;ENSP00000376771:A232T;ENSP00000433432:A169T;ENSP00000442427:A108T	ENSP00000280346:A337T	A	+	1	0	DLAT	111415211	0.001000	0.12720	0.001000	0.08648	0.459000	0.32528	0.380000	0.20602	-0.023000	0.13963	-0.150000	0.13652	GCT		TCGA-IB-7651-01A-11D-2154-08	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	0	0	0	33	1123	0	201	0	8.345783e-01	0	113	0	201	2		0	0	0	0	0	2	1	1	33	1107	0	198	2								-2.987072	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.340000	0.230000	1.000000	0.330000	0.370321	0.340000	0	2.800000e-01	4.100000e-01
DLAT	1737	broad.mit.edu	37	11	111916599	111916599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111916599C>T	ENST00000280346.6	+	10	1962	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*|DLAT_ENST00000393051.1_Nonsense_Mutation_p.R330*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase			22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)			TATTGCACAGCGATTAATGCA	0.333000																								0							SO:0001587	stop_gained			ENST00000280346.6	0	1	hg19	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	36	5.916536	0.97099	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	5.78	2.82	0.32997	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5003	9.6723	0.40019	0.3675:0.5686:0.0:0.064	.	.	.	.	X	435;330;267;206	.	ENSP00000280346:R435X	R	+	1	2	DLAT	111421809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.463000	0.45058	0.323000	0.23307	-0.140000	0.14226	CGA		TCGA-IB-7651-01A-11D-2154-08	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	1	0	1	30	153	0	29	1	9.996311e-01	3	63	0	29	2		0	0	0	0	0	2	1	1	30	151	0	29	2								-3.278025	1	1	121396	1	24	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
DLAT	1737	broad.mit.edu	37	11	111930659	111930659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111930659G>A	ENST00000280346.6	+	12	2206	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	DLAT_ENST00000537636.1_Missense_Mutation_p.S287N|DLAT_ENST00000393051.1_Missense_Mutation_p.S411N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase			22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)			GTTGCGGTCAGTACTCCTGCA	0.348000																								0							SO:0001583	missense			ENST00000280346.6	0	1	hg19	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215917	0.79352	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.07	6.07	0.98685	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.83223	2.63	0.80722	D	1	P;D;P	0.57571	0.84;0.98;0.84	P;D;P	0.78314	0.886;0.991;0.886	T	0.70695	-0.4801	10	0.59425	D	0.04	-15.1278	20.6593	0.99626	0.0:0.0:1.0:0.0	.	516;411;516	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	N	516;411;348;287	ENSP00000280346:S516N;ENSP00000376771:S411N;ENSP00000433432:S348N;ENSP00000442427:S287N	ENSP00000280346:S516N	S	+	2	0	DLAT	111435869	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.430000	0.73391	2.885000	0.99019	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	0	0	0	42	167	0	40	1	9.999983e-01	2	83	0	40	2		0	0	0	0	0	2	1	1	40	164	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIH1D2	120379	broad.mit.edu	37	11	111941873	111941873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111941873G>A	ENST00000280350.4	-	4	658	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000521853.2_5'UTR	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2			11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			TGGTAAGAGTGTGAGAGGGTG	0.343000																								0							SO:0001583	missense			ENST00000280350.4	1	1	hg19	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368591|3.368591	0.61624|0.61624	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.17854|.	2.25;2.25;2.25;2.25;2.25;2.25|.	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.628571|.	0.18277|.	N|.	0.146140|.	T|T	0.73651|0.73651	0.3614|0.3614	M|M	0.72479|0.72479	2.2|2.2	0.41608|0.41608	D|D	0.988891|0.988891	D;D;D|.	0.57571|.	0.964;0.98;0.97|.	P;P;P|.	0.51516|.	0.672;0.672;0.663|.	T|T	0.74657|0.74657	-0.3592|-0.3592	10|5	0.56958|.	D|.	0.05|.	-1.1106|-1.1106	15.6913|15.6913	0.77457|0.77457	0.0:0.0:0.8542:0.1458|0.0:0.0:0.8542:0.1458	.|.	146;146;146|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	Y|I	146;146;146;146;146;111|101	ENSP00000434275:H146Y;ENSP00000388209:H146Y;ENSP00000431841:H146Y;ENSP00000280350:H146Y;ENSP00000431147:H146Y;ENSP00000433297:H111Y|.	ENSP00000280350:H146Y|.	H|T	-|-	1|2	0|0	PIH1D2|PIH1D2	111447083|111447083	0.694000|0.694000	0.27738|0.27738	0.950000|0.950000	0.38849|0.38849	0.832000|0.832000	0.47134|0.47134	1.479000|1.479000	0.35453|0.35453	1.467000|1.467000	0.48044|0.48044	0.591000|0.591000	0.81541|0.81541	CAC|ACA		TCGA-IB-7651-01A-11D-2154-08	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	1	0	1	124	632	0	158	1	5.615197e-01	3	8	0	158	2		0	0	0	0	0	2	1	1	121	618	0	156	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCO2	83875	broad.mit.edu	37	11	112084459	112084459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:112084459G>A	ENST00000357685.5	+	9	1342	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	BCO2_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2			16					CCATAATTCAGCAGCCAAATC	0.408000													GBM(177;1916 2099 21049 29541 39946)											0							SO:0001583	missense			ENST00000357685.5	1	1	hg19	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.872|1.872	-0.460077|-0.460077	0.04508|0.04508	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000530677	D;D;D;D;D;D;D|D	0.94687|0.94862	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49|-3.54	5.27|5.27	1.17|1.17	0.20885|0.20885	.|.	1.298920|.	0.04967|.	N|.	0.463152|.	D|D	0.86351|0.86351	0.5912|0.5912	N|N	0.12637|0.12637	0.245|0.245	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33777|.	0.001;0.425;0.001;0.003|.	B;B;B;B|.	0.34418|.	0.007;0.182;0.016;0.026|.	T|T	0.76841|0.76841	-0.2810|-0.2810	10|7	0.19590|0.37606	T|T	0.45|0.19	-4.7509|-4.7509	5.0829|5.0829	0.14666|0.14666	0.3056:0.0:0.5596:0.1348|0.3056:0.0:0.5596:0.1348	.|.	380;330;403;230|.	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7|.	.;.;BCDO2_HUMAN;.|.	T|N	403;369;330;369;369;298;369|170	ENSP00000350314:A403T;ENSP00000376752:A369T;ENSP00000354338:A330T;ENSP00000414843:A369T;ENSP00000436615:A369T;ENSP00000431802:A298T;ENSP00000437053:A369T|ENSP00000432045:S170N	ENSP00000350314:A403T|ENSP00000432045:S170N	A|S	+|+	1|2	0|0	BCO2|BCO2	111589669|111589669	0.003000|0.003000	0.15002|0.15002	0.042000|0.042000	0.18584|0.18584	0.094000|0.094000	0.18550|0.18550	0.006000|0.006000	0.13152|0.13152	-0.032000|-0.032000	0.13758|0.13758	-0.237000|-0.237000	0.12165|0.12165	GCA|AGC		TCGA-IB-7651-01A-11D-2154-08	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	1	0	1	159	908	0	174	0	2.252083e-02	0	2	0	174	2		0	0	0	0	0	2	1	1	156	902	0	174	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAM1	4684	broad.mit.edu	37	11	113075180	113075180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113075180C>T	ENST00000316851.7	+	2	270	c.270C>T	c.(268-270)ggC>ggT	p.G90G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G|NCAM1_ENST00000533760.1_5'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1			49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)			TGGTTACAGGCGAGGATGGCA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000316851.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	42	189	0	57	0	5.687387e-01	0	10	0	57	2		0	0	0	0	0	2	1	1	42	188	0	57	2								-3.452074	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAM1	4684	broad.mit.edu	37	11	113102908	113102908	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113102908G>T	ENST00000533760.1	+	10	1472	c.873G>T	c.(871-873)caG>caT	p.Q291H	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000316851.7_Missense_Mutation_p.Q409H	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1			49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)			CAAAGCTACAGGGCCCTGTGG	0.537000																								0							SO:0001583	missense			ENST00000533760.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.298	1.052332	0.19827	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68903	-0.36;-0.16	5.51	1.58	0.23477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245525	0.33712	U	0.004635	T	0.53948	0.1828	.	.	.	0.80722	D	1	B;B;B;B	0.20887	0.049;0.007;0.005;0.002	B;B;B;B	0.13407	0.007;0.004;0.007;0.009	T	0.45716	-0.9242	9	0.49607	T	0.09	-28.7809	8.8057	0.34936	0.3503:0.0:0.6497:0.0	.	419;409;419;409	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	H	291;418;409	ENSP00000384055:Q418H;ENSP00000318472:Q409H	ENSP00000318472:Q409H	Q	+	3	2	NCAM1	112608118	1.000000	0.71417	0.999000	0.59377	0.569000	0.35902	2.707000	0.47143	0.111000	0.17947	-0.384000	0.06662	CAG		TCGA-IB-7651-01A-11D-2154-08	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	1	0	1	18	139	0	31	0	1.142242e-01	0	5	0	31	2		0	0	0	0	0	2	1	9.999858e-01	18	137	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.840000	1.000000	1.000000	0.990162	0.990000	1	9.900000e-01	1
TTC12	54970	broad.mit.edu	37	11	113235728	113235728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113235728C>T	ENST00000529221.1	+	21	2093	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Missense_Mutation_p.A663V	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12			32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)			CAGAAGACGGCCGTGCAGGTG	0.562000																								0							SO:0001583	missense			ENST00000529221.1	0	1	hg19	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718723	0.48622	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000483239	T;T;T	0.50277	0.75;0.75;0.75	5.78	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	1.215570	0.05388	N	0.538515	T	0.47192	0.1432	L	0.47190	1.495	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.38562	0.276;0.276	T	0.41142	-0.9525	10	0.52906	T	0.07	-7.9027	10.3699	0.44046	0.2592:0.6124:0.1284:0.0	.	663;663	A8K8G6;Q9H892	.;TTC12_HUMAN	V	663;663;669	ENSP00000433757:A663V;ENSP00000315160:A663V;ENSP00000419652:A669V	ENSP00000315160:A663V	A	+	2	0	TTC12	112740938	0.002000	0.14202	0.071000	0.20095	0.428000	0.31595	0.574000	0.23714	1.443000	0.47586	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	0	0	0	9	268	0	49	1	3.040146e-01	3	28	0	49	2		0	0	0	0	0	2	1	9.937354e-01	9	261	0	49	2								-3.118086	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.400000	0.190000	1.000000	0.380000	0.438365	0.400000	0	2.800000e-01	5.700000e-01
ANKK1	255239	broad.mit.edu	37	11	113258669	113258669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113258669C>T	ENST00000303941.3	+	1	157	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1			29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)			GCGACGACTTCGAGGGCGACT	0.726000																								0							SO:0001819	synonymous_variant			ENST00000303941.3	0	1	hg19	CCDS44734.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	1	0	0	8	41	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.898201e-01	7	40	0	9	2								-16.321540	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.870000	1.000000	1.000000	0.992273	0.990000	1	9.900000e-01	1
ANKK1	255239	broad.mit.edu	37	11	113266921	113266921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113266921C>T	ENST00000303941.3	+	5	909	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1			29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)			GACCAGGACCCCAAGAAGAGG	0.647000																								0							SO:0001583	missense			ENST00000303941.3	1	1	hg19	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357838	0.24598	.	.	ENSG00000170209	ENST00000303941	T	0.46819	0.86	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139368	0.32161	U	0.006485	T	0.60143	0.2246	M	0.90977	3.165	0.50039	D	0.99984	B	0.22746	0.074	B	0.26202	0.067	T	0.67534	-0.5646	10	0.66056	D	0.02	-30.2474	16.2135	0.82186	0.0:1.0:0.0:0.0	.	272	Q8NFD2	ANKK1_HUMAN	L	272	ENSP00000306678:P272L	ENSP00000306678:P272L	P	+	2	0	ANKK1	112772131	0.037000	0.19845	1.000000	0.80357	0.015000	0.08874	0.365000	0.20348	2.285000	0.76669	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	1	0	1	65	443	0	110	0	1.696788e-02	1	1	0	110	2		0	0	0	0	0	2	1	1	64	432	0	109	2								-2.642105	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
ANKK1	255239	broad.mit.edu	37	11	113267969	113267969	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113267969C>A	ENST00000303941.3	+	6	956	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	p.L288L(1)		29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)			GACAGACATACTGCTGTCACT	0.587000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000303941.3	1	1	hg19	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816348	0.32145	.	.	ENSG00000170209	ENST00000303941	T	0.76448	-1.02	4.8	3.88	0.44766	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.355271	0.19070	N	0.123526	T	0.80874	0.4707	L	0.38838	1.175	0.39011	D	0.959556	D	0.71674	0.998	D	0.66196	0.942	T	0.81226	-0.1029	10	0.46703	T	0.11	-7.9202	12.6573	0.56793	0.0:0.8342:0.1658:0.0	.	288	Q8NFD2	ANKK1_HUMAN	M	288	ENSP00000306678:L288M	ENSP00000306678:L288M	L	+	1	2	ANKK1	112773179	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.186000	0.32078	1.218000	0.43458	-0.304000	0.09214	CTG		TCGA-IB-7651-01A-11D-2154-08	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	1	0	1	43	130	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	42	129	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKK1	255239	broad.mit.edu	37	11	113269997	113269997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113269997G>A	ENST00000303941.3	+	8	1400	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1			29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)			GCACTTTGCAGCCCAGAATGG	0.647000																								0							SO:0001583	missense			ENST00000303941.3	1	1	hg19	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357415	0.61293	.	.	ENSG00000170209	ENST00000303941	T	0.71817	-0.6	4.61	4.61	0.57282	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000021	T	0.81880	0.4916	L	0.61387	1.9	0.48135	D	0.999594	D	0.76494	0.999	D	0.73708	0.981	D	0.84058	0.0373	10	0.72032	D	0.01	-20.5807	16.5983	0.84802	0.0:0.0:1.0:0.0	.	436	Q8NFD2	ANKK1_HUMAN	T	436	ENSP00000306678:A436T	ENSP00000306678:A436T	A	+	1	0	ANKK1	112775207	1.000000	0.71417	0.945000	0.38365	0.082000	0.17680	6.159000	0.71856	2.387000	0.81309	0.455000	0.32223	GCC		TCGA-IB-7651-01A-11D-2154-08	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	1	0	1	14	56	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.998074e-01	13	54	0	10	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999670	0.990000	1	9.900000e-01	1
DRD2	1813	broad.mit.edu	37	11	113281506	113281506	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113281506G>T	ENST00000362072.3	-	8	1619	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	DRD2_ENST00000346454.3_Silent_p.I396I|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000538967.1_Silent_p.I427I|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000355319.2_Silent_p.I427I|DRD2_ENST00000542968.1_Silent_p.I425I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2			39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGGTGGTGTAGATGATGGGGT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000362072.3	1	1	hg19	CCDS8361.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	1	0	1	139	613	0	144	0	0	0	1	0	144	2		0	0	0	0	0	2	1	1	134	599	0	142	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS5	80975	broad.mit.edu	37	11	113560616	113560616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113560616C>T	ENST00000299882.5	-	12	1378	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000545579.1_Silent_p.V401V|TMPRSS5_ENST00000538955.1_Silent_p.V366V	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5			10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)			CATCTGGGCACACTAGGGGGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000299882.5	0	1	hg19	CCDS44735.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	0	0	0	6	25	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.632820e-01	4	25	0	8	2								-16.678780	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.840000	1.000000	1.000000	0.990666	0.990000	1	9.900000e-01	1
ZW10	9183	broad.mit.edu	37	11	113610060	113610060	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113610060T>G	ENST00000200135.3	-	12	1772	c.1628A>C	c.(1627-1629)aAc>aCc	p.N543T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein			18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)			CATACAGTTGTTGTGATGAAT	0.488000																								0							SO:0001583	missense			ENST00000200135.3	1	1	hg19	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310377	0.81358	.	.	ENSG00000086827	ENST00000200135	T	0.75704	-0.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88631	0.3169	10	0.87932	D	0	-19.3846	15.9494	0.79820	0.0:0.0:0.0:1.0	.	543	O43264	ZW10_HUMAN	T	543	ENSP00000200135:N543T	ENSP00000200135:N543T	N	-	2	0	ZW10	113115270	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.698000	0.84413	2.167000	0.68274	0.482000	0.46254	AAC		TCGA-IB-7651-01A-11D-2154-08	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	1	0	1	73	349	0	109	1	9.999503e-01	19	52	0	109	2		0	0	0	0	0	2	1	1	73	344	0	106	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP28	57646	broad.mit.edu	37	11	113683039	113683039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683039C>T	ENST00000003302.4	-	16	1999	c.1931G>A	c.(1930-1932)tGt>tAt	p.C644Y	USP28_ENST00000260188.5_Missense_Mutation_p.C644Y|USP28_ENST00000545540.1_Missense_Mutation_p.C519Y|USP28_ENST00000544967.1_Missense_Mutation_p.C352Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28			59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			GTACATCAGACAGTAAGCACT	0.413000													Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0							SO:0001583	missense			ENST00000003302.4	1	1	hg19	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483135	0.84747	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.0	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.53561	1.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54443	-0.8293	10	0.72032	D	0.01	-15.4412	18.491	0.90848	0.0:1.0:0.0:0.0	.	519;644;352	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	Y	644;644;352;519;348	ENSP00000003302:C644Y;ENSP00000260188:C644Y;ENSP00000442431:C352Y;ENSP00000444991:C519Y;ENSP00000442257:C348Y	ENSP00000003302:C644Y	C	-	2	0	USP28	113188249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.270000	0.78493	2.585000	0.87301	0.655000	0.94253	TGT		TCGA-IB-7651-01A-11D-2154-08	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	1	55	357	0	83	1	9.738502e-01	7	33	0	83	2		0	0	0	0	0	2	1	1	53	352	0	83	2								-3.318901	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
USP28	57646	broad.mit.edu	37	11	113683095	113683095	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000544967.1_Silent_p.S333S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28			59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			CTTCTTCCCAGGAAGATTCAG	0.418000													Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0							SO:0001819	synonymous_variant			ENST00000003302.4	1	1	hg19	CCDS31680.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	1	69	387	0	93	1	9.441721e-01	6	23	0	93	2		0	0	0	0	0	2	1	1	68	378	0	92	2								-2.808739	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP28	57646	broad.mit.edu	37	11	113688414	113688414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113688414G>A	ENST00000003302.4	-	13	1497	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	USP28_ENST00000260188.5_Missense_Mutation_p.H477Y|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000537706.1_Missense_Mutation_p.H477Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28			59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			ACCGAGCAGTGCACTGAAGAA	0.358000													Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0							SO:0001583	missense			ENST00000003302.4	1	1	hg19	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	3.669	-0.068011	0.07228	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706	T;T;T;T;T	0.44083	1.52;1.53;0.93;1.53;1.91	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.638378	0.16792	N	0.199355	T	0.30198	0.0757	N	0.14661	0.345	0.29783	N	0.833808	B;B;B;B	0.22003	0.032;0.043;0.025;0.063	B;B;B;B	0.24974	0.057;0.032;0.023;0.034	T	0.17806	-1.0357	10	0.44086	T	0.13	-10.7052	14.7347	0.69406	0.0:0.0:1.0:0.0	.	352;477;477;185	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	Y	477;477;185;352;477	ENSP00000003302:H477Y;ENSP00000260188:H477Y;ENSP00000442431:H185Y;ENSP00000444991:H352Y;ENSP00000445743:H477Y	ENSP00000003302:H477Y	H	-	1	0	USP28	113193624	0.990000	0.36364	0.718000	0.30602	0.865000	0.49528	2.355000	0.44107	2.861000	0.98227	0.650000	0.86243	CAC		TCGA-IB-7651-01A-11D-2154-08	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	1	121	473	0	99	1	9.781436e-01	4	22	0	99	2		0	0	0	0	0	2	1	1	120	461	0	98	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP28	57646	broad.mit.edu	37	11	113702669	113702669	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113702669T>C	ENST00000003302.4	-	8	874	c.806A>G	c.(805-807)gAc>gGc	p.D269G	USP28_ENST00000260188.5_Missense_Mutation_p.D269G|USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000544967.1_5'Flank|USP28_ENST00000542033.1_Intron|USP28_ENST00000537706.1_Missense_Mutation_p.D269G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28			59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			CTGGAATGCGTCCTCTAGCCA	0.408000													Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											0							SO:0001583	missense			ENST00000003302.4	1	1	hg19	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741660	0.89573	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.992;0.999	T	0.47484	-0.9114	10	0.49607	T	0.09	-26.2298	15.0622	0.71964	0.0:0.0:0.0:1.0	.	144;269;269	B4E3L3;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	G	269;269;144;33;269;168	ENSP00000003302:D269G;ENSP00000260188:D269G;ENSP00000444991:D144G;ENSP00000442257:D33G;ENSP00000445743:D269G;ENSP00000440799:D168G	ENSP00000003302:D269G	D	-	2	0	USP28	113207879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.707000	0.68370	2.011000	0.59026	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1	1	0	0	12	203	0	53	0	1.838066e-01	0	13	0	53	2		0	0	0	0	0	2	1	9.989881e-01	12	195	0	51	2								-15.107770	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.680000	0.370000	1.000000	1.000000	0.697842	0.680000	0	5.000000e-01	9.100000e-01
HTR3B	9177	broad.mit.edu	37	11	113780108	113780108	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113780108A>G	ENST00000260191.2	+	2	401	c.144A>G	c.(142-144)agA>agG	p.R48R	HTR3B_ENST00000537778.1_Silent_p.R37R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic			20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Ergoloid mesylate(DB01049)	AAGAAGTGAGACCTGTTTACA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000260191.2	1	1	hg19	CCDS8364.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	1	0	1	56	267	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	55	262	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR3B	9177	broad.mit.edu	37	11	113815474	113815474	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113815474A>C	ENST00000260191.2	+	8	1344	c.1087A>C	c.(1087-1089)Aca>Cca	p.T363P	HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic			20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Ergoloid mesylate(DB01049)	TGCTGTGGTAACAGGTGTGTG	0.537000																								0							SO:0001583	missense			ENST00000260191.2	1	1	hg19	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	A	6.484	0.457526	0.12342	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.23552	1.9;1.9	5.11	2.78	0.32641	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.660669	0.16067	N	0.231187	T	0.12050	0.0293	N	0.11789	0.175	0.30936	N	0.726339	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.12477	-1.0546	10	0.31617	T	0.26	-2.0701	4.6748	0.12706	0.7057:0.1958:0.0985:0.0	.	352;363	O95264-2;O95264	.;5HT3B_HUMAN	P	363;352	ENSP00000260191:T363P;ENSP00000443118:T352P	ENSP00000260191:T363P	T	+	1	0	HTR3B	113320684	0.009000	0.17119	0.707000	0.30419	0.119000	0.20118	-0.088000	0.11198	0.776000	0.33473	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	1	0	1	61	306	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	60	299	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR3A	3359	broad.mit.edu	37	11	113853894	113853894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113853894G>A	ENST00000504030.2	+	5	872	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S|HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic			36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCGGCATCAAGGCGAAGTTCA	0.537000																								0							SO:0001583	missense			ENST00000504030.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.1	4.378457	0.82682	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.39	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99391	1.0925	10	0.72032	D	0.01	-21.8271	14.2487	0.66004	0.0721:0.0:0.9279:0.0	.	128;149;149	B4DSY6;G5E986;Q7KZM7	.;.;.	S	143;149;149;143;128	ENSP00000424189:G143S;ENSP00000347754:G149S;ENSP00000364648:G149S;ENSP00000424776:G143S;ENSP00000299961:G128S	ENSP00000299961:G128S	G	+	1	0	HTR3A	113359104	1.000000	0.71417	0.035000	0.18076	0.571000	0.35966	9.809000	0.99208	1.278000	0.44430	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	1	0	1	138	559	0	147	1	7.598418e-01	7	6	0	147	2		0	0	0	0	0	2	1	1	137	551	0	147	2								-3.190295	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR3A	3359	broad.mit.edu	37	11	113857382	113857382	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113857382G>A	ENST00000504030.2	+	7	1293	c.848G>A	c.(847-849)gGc>gAc	p.G283D	HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D|HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic			36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCCTCCTGGGCTACTCGGTC	0.577000																								0							SO:0001583	missense			ENST00000504030.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.5	4.540559	0.85917	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.85258	-1.96;-0.62;-1.96;-0.62;-1.96;-1.96	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.94826	0.7991	10	0.87932	D	0	-31.8021	18.4412	0.90667	0.0:0.0:1.0:0.0	.	268;289;289	B4DSY6;G5E986;Q7KZM7	.;.;.	D	283;289;289;283;27;268	ENSP00000424189:G283D;ENSP00000347754:G289D;ENSP00000364648:G289D;ENSP00000424776:G283D;ENSP00000437776:G27D;ENSP00000299961:G268D	ENSP00000299961:G268D	G	+	2	0	HTR3A	113362592	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.421000	0.82119	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	1	0	1	49	428	0	97	1	3.202010e-01	4	7	0	97	2		0	0	0	0	0	2	1	1	48	410	0	96	2								-16.660050	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.910000	1.000000	1.000000	0.995006	0.990000	1	9.900000e-01	1
HTR3A	3359	broad.mit.edu	37	11	113860390	113860390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113860390G>A	ENST00000504030.2	+	9	1787	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M|HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic			36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CGTGGGCTCCGTGCTGGACAA	0.602000																								0							SO:0001583	missense			ENST00000504030.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.9	4.063842	0.76187	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.975;1.0	T	0.43245	-0.9403	10	0.87932	D	0	-26.7499	13.105	0.59241	0.073:0.0:0.927:0.0	.	433;486;454	B4DSY6;G5E986;Q7KZM7	.;.;.	M	448;486;454;480;192;433	ENSP00000424189:V448M;ENSP00000347754:V486M;ENSP00000364648:V454M;ENSP00000424776:V480M;ENSP00000437776:V192M;ENSP00000299961:V433M	ENSP00000299961:V433M	V	+	1	0	HTR3A	113365600	1.000000	0.71417	0.973000	0.42090	0.621000	0.37620	5.499000	0.66937	2.710000	0.92621	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	1	0	1	109	440	0	89	1	9.565568e-01	12	11	0	89	2		0	0	0	0	0	2	1	1	108	436	1	87	20								-20.000000	1	1	121412	7	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB16	7704	broad.mit.edu	37	11	113934573	113934573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113934573G>A	ENST00000335953.4	+	2	931	c.551G>A	c.(550-552)aGc>aAc	p.S184N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16			6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)			GTGGACCAGAGCCCTTCAGTC	0.552000																								0							SO:0001583	missense			ENST00000335953.4	1	1	hg19	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912424	0.52439	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.10288	2.89;2.89	5.67	4.74	0.60224	.	0.117422	0.85682	D	0.000000	T	0.09335	0.0230	L	0.27053	0.805	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15150	-1.0447	10	0.35671	T	0.21	-4.991	15.5488	0.76129	0.0695:0.0:0.9305:0.0	.	184;189	Q05516;Q59H43	ZBT16_HUMAN;.	N	184	ENSP00000338157:S184N;ENSP00000376721:S184N	ENSP00000309507:S184N	S	+	2	0	ZBTB16	113439783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.567000	0.73983	2.828000	0.97474	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	1	0	1	68	285	0	55	0	9.999946e-01	0	77	0	55	2		0	0	0	0	0	2	1	1	66	282	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REXO2	25996	broad.mit.edu	37	11	114310303	114310303	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114310303A>G	ENST00000265881.5	+	1	196	c.53A>G	c.(52-54)cAc>cGc	p.H18R	RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R|REXO2_ENST00000539275.1_Missense_Mutation_p.H18R	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2			4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)			GGTGGGAGTCACGGACGGTTC	0.711000											OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000265881.5	1	1	hg19	CCDS8371.1	.	.	.	.	.	.	.	.	.	.	a	3.772	-0.047394	0.07407	.	.	ENSG00000076043	ENST00000265881;ENST00000544196;ENST00000539754;ENST00000539275	.	.	.	5.27	2.42	0.29668	.	1.206880	0.05657	N	0.586217	T	0.28101	0.0693	N	0.08118	0	0.58432	D	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39921	-0.9590	9	0.05351	T	0.99	2.6504	6.1819	0.20476	0.2333:0.1352:0.6315:0.0	.	18;18	Q9BTR4;Q9Y3B8	.;ORN_HUMAN	R	18	.	ENSP00000265881:H18R	H	+	2	0	REXO2	113815513	0.025000	0.19082	0.737000	0.30932	0.771000	0.43674	0.592000	0.23984	0.235000	0.21160	-0.147000	0.13772	CAC		TCGA-IB-7651-01A-11D-2154-08	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1	1	0	1	13	111	0	28	1	9.999890e-01	47	150	0	28	2		0	0	0	0	0	2	1	9.995884e-01	13	109	0	28	2								-19.751370	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.710000	1.000000	1.000000	0.971208	0.990000	1	9.500000e-01	1
CADM1	23705	broad.mit.edu	37	11	115049448	115049448	+	Missense_Mutation	SNP	C	C	T	rs145171991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115049448C>T	ENST00000452722.3	-	9	1146	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	CADM1_ENST00000537058.1_Missense_Mutation_p.V387M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000542447.2_Missense_Mutation_p.V348M	NM_014333.3	NP_055148.3			cell adhesion molecule 1			32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)			CCACCGATCACGGCATGATCC	0.512000																								0							SO:0001583	missense			ENST00000452722.3	1	1	hg19	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589329|3.589329	0.66105|0.66105	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.|T;T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02;0.02	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.79627|0.79627	0.4478|0.4478	M|M	0.79926|0.79926	2.475|2.475	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;0.998;0.999;0.994	.|D;P;D;P	.|0.69654	.|0.935;0.819;0.965;0.67	T|T	0.79157|0.79157	-0.1919|-0.1919	5|10	.|0.38643	.|T	.|0.18	.|.	18.4828|18.4828	0.90818|0.90818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|387;349;376;348	.|F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;CADM1_HUMAN;.	H|M	346|348;376;387;377;307;405;61	.|ENSP00000439176:V348M;ENSP00000395359:V376M;ENSP00000439817:V387M;ENSP00000440322:V377M;ENSP00000329797:V405M	.|ENSP00000329797:V405M	R|V	-|-	2|1	0|0	CADM1|CADM1	114554658|114554658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.448000|4.448000	0.60027|0.60027	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CGT|GTG		TCGA-IB-7651-01A-11D-2154-08	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	1	0	1	108	543	0	85	1	1	2	132	0	85	2		0	0	0	0	0	2	1	1	104	524	0	84	2								-20.000000	1	1	121412	3	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CADM1	23705	broad.mit.edu	37	11	115088668	115088668	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115088668G>A	ENST00000452722.3	-	6	785	c.765C>T	c.(763-765)ggC>ggT	p.G255G	CADM1_ENST00000537058.1_Silent_p.G255G|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.G255G|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000542447.2_Silent_p.G255G	NM_014333.3	NP_055148.3			cell adhesion molecule 1			32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)			CCCGGGTTAAGCCTTGTAGAG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000452722.3	1	1	hg19	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908549	0.17833	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.70413	0.3221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68727	-0.5332	4	.	.	.	.	14.1468	0.65355	0.0:0.1493:0.8507:0.0	.	.	.	.	F	254	.	.	L	-	1	0	CADM1	114593878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.791000	0.47829	2.593000	0.87608	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	1	0	1	52	231	0	67	0	9.999998e-01	1	106	0	67	2		0	0	0	0	0	2	1	1	52	227	0	67	2								-3.012992	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CADM1	23705	broad.mit.edu	37	11	115099861	115099861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115099861C>T	ENST00000452722.3	-	5	713	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.L231L|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000542447.2_Silent_p.L231L	NM_014333.3	NP_055148.3			cell adhesion molecule 1			32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)			GCTGGGTCTGCAGGTTTCCAG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000452722.3	1	1	hg19	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347509	0.24426	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62358	-0.6871	4	.	.	.	.	11.4478	0.50134	0.0:0.8637:0.0:0.1363	.	.	.	.	T	230	.	.	A	-	1	0	CADM1	114605071	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.673000	0.46858	1.627000	0.50400	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	1	0	1	37	187	0	48	0	1	1	141	0	48	2		0	0	0	0	0	2	1	1	35	185	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
BUD13	84811	broad.mit.edu	37	11	116627904	116627904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116627904C>A	ENST00000260210.4	-	9	1747	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	BUD13_ENST00000375445.3_Missense_Mutation_p.R441I	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)			22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)			GATATTAAATCTGTTGGGAGG	0.443000																								0							SO:0001583	missense			ENST00000260210.4	1	1	hg19	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454206	0.96223	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.68181	0.07;-0.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90556	0.4512	10	0.87932	D	0	-17.0014	20.5801	0.99389	0.0:1.0:0.0:0.0	.	441;575	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	I	441;575	ENSP00000364594:R441I;ENSP00000260210:R575I	ENSP00000260210:R575I	R	-	2	0	BUD13	116133114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.287000	0.78681	2.873000	0.98535	0.643000	0.83706	AGA		TCGA-IB-7651-01A-11D-2154-08	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	1	0	1	29	141	0	61	1	9.999700e-01	23	61	0	61	2		0	0	0	0	0	2	1	1	29	137	0	61	2								-16.973400	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
APOA5	116519	broad.mit.edu	37	11	116661334	116661334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661334C>T	ENST00000227665.4	-	3	645	c.611G>A	c.(610-612)cGc>cAc	p.R204H	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.R204H			Q6Q788	APOA5_HUMAN	apolipoprotein A-V			14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)			CTGCACGTGGCGCCCGATGCC	0.701000																								0							SO:0001583	missense			ENST00000227665.4	1	1	hg19	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	5.983	0.365282	0.11352	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.73681	-0.77;-0.77	4.84	-7.05	0.01573	Apolipoprotein/apolipophorin (1);	1.167800	0.06305	N	0.701598	T	0.54870	0.1885	N	0.11064	0.09	0.22851	N	0.998653	B;B	0.14805	0.011;0.004	B;B	0.12837	0.008;0.008	T	0.39761	-0.9598	10	0.29301	T	0.29	-6.7753	16.6351	0.85050	0.0:0.7996:0.0:0.2004	.	201;204	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	204	ENSP00000227665:R204H;ENSP00000445002:R204H	ENSP00000227665:R204H	R	-	2	0	APOA5	116166544	0.163000	0.22920	0.823000	0.32752	0.894000	0.52154	-0.967000	0.03821	-1.392000	0.02082	-0.157000	0.13467	CGC		TCGA-IB-7651-01A-11D-2154-08	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2	1	0	1	43	159	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	1	42	156	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOA5	116519	broad.mit.edu	37	11	116661734	116661734	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661734G>T	ENST00000227665.4	-	3	245	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.L71M			Q6Q788	APOA5_HUMAN	apolipoprotein A-V			14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)			AGCTTTTCCAGGAACTTGTTC	0.587000																								0							SO:0001583	missense			ENST00000227665.4	0	1	hg19	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728506	0.30593	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;D	0.86097	-0.87;-0.87;-2.07	4.92	2.9	0.33743	Apolipoprotein/apolipophorin (1);	0.000000	0.44097	D	0.000495	D	0.90160	0.6925	M	0.80028	2.48	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.80334	-0.1426	10	0.42905	T	0.14	-15.7997	7.2775	0.26292	0.3041:0.0:0.6959:0.0	.	68;71	B0YIW1;Q6Q788	.;APOA5_HUMAN	M	71	ENSP00000227665:L71M;ENSP00000445002:L71M;ENSP00000399701:L71M	ENSP00000227665:L71M	L	-	1	2	APOA5	116166944	0.015000	0.18098	0.844000	0.33320	0.255000	0.26057	0.698000	0.25571	1.288000	0.44600	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2	0	0	0	11	274	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	9.982921e-01	10	271	0	49	2								-3.049263	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.470000	0.250000	1.000000	0.450000	0.505225	0.470000	0	3.400000e-01	6.400000e-01
APOA5	116519	broad.mit.edu	37	11	116662558	116662558	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116662558C>T	ENST00000227665.4	-	1	53	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	APOA5_ENST00000542499.1_Missense_Mutation_p.V7M			Q6Q788	APOA5_HUMAN	apolipoprotein A-V			14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)			CAGGTGAGCACGGCAGCCATG	0.632000											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000227665.4	1	1	hg19	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611190	0.46631	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;T	0.80480	-0.94;-0.94;-1.38	5.41	-1.14	0.09741	.	0.770143	0.11366	N	0.571410	T	0.74207	0.3686	M	0.75264	2.295	0.09310	N	1	B	0.19073	0.033	B	0.11329	0.006	T	0.64145	-0.6476	10	0.62326	D	0.03	-5.4016	2.5289	0.04698	0.2099:0.3124:0.338:0.1397	.	7	Q6Q788	APOA5_HUMAN	M	7	ENSP00000227665:V7M;ENSP00000445002:V7M;ENSP00000399701:V7M	ENSP00000227665:V7M	V	-	1	0	APOA5	116167768	0.000000	0.05858	0.000000	0.03702	0.436000	0.31835	-0.470000	0.06639	-0.355000	0.08199	-0.254000	0.11334	GTG		TCGA-IB-7651-01A-11D-2154-08	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2	1	0	1	30	145	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	27	139	0	35	2								-17.901750	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV			20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)			TACTCACCGGCGACAGCCACC	0.587000																								0							SO:0001583	missense			ENST00000357780.3	1	1	hg19	CCDS31681.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	3.413	-0.119846	0.06838	.	.	ENSG00000110244	ENST00000357780	T	0.70399	-0.48	4.33	3.15	0.36227	.	0.172534	0.40302	N	0.001133	T	0.24586	0.0596	N	0.00265	-1.74	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	10	0.02654	T	1	.	3.7025	0.08387	0.189:0.1025:0.0:0.7085	.	16	P06727	APOA4_HUMAN	T	16	ENSP00000350425:A16T	ENSP00000350425:A16T	A	-	1	0	APOA4	116199072	0.672000	0.27530	0.748000	0.31131	0.699000	0.40488	0.438000	0.21559	0.402000	0.25451	-0.254000	0.11334	GCC		TCGA-IB-7651-01A-11D-2154-08	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	1	0	1	99	695	0	162	0	0	0	1	0	162	2		0	0	0	0	0	2	1	1	99	685	0	160	2								-11.113090	1	1	121412	34	50	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SIK3	23387	broad.mit.edu	37	11	116718256	116718256	+	Silent	SNP	C	C	T	rs139869704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116718256C>T	ENST00000292055.4	-	22	3605	c.3570G>A	c.(3568-3570)tcG>tcA	p.S1190S	SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000375300.1_Silent_p.S1248S|SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000434315.2_Silent_p.S1029S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	p.S1296S(1)		57					GAACTGCATCCGACATCCGGG	0.512000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000292055.4	1	1	hg19	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653220	0.14580	0.001363	0.0	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	4.92	-7.05	0.01573	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	1.8087	0.03086	0.2159:0.3505:0.2393:0.1943	.	.	.	.	R	1290;30;1153	.	.	G	-	1	0	SIK3	116223466	0.000000	0.05858	0.979000	0.43373	0.762000	0.43233	-3.221000	0.00552	-0.691000	0.05135	-1.113000	0.02065	GGA		TCGA-IB-7651-01A-11D-2154-08	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	131	689	0	196	1	9.999884e-01	21	64	0	196	2		0	0	0	0	0	2	1	1	128	676	0	193	2								-2.880216	1	1	121412	15	47	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK7	9159	broad.mit.edu	37	11	117077055	117077055	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117077055G>A	ENST00000320934.3	-	17	2646	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7			16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			CGGTGAAACAGCCTACCAGCA	0.527000			T	IGH@	MLCLS										Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0							SO:0001819	synonymous_variant			ENST00000320934.3	1	1	hg19	CCDS8382.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	0	0	0	14	398	0	88	1	9.959525e-01	7	253	0	88	2		0	0	0	0	0	2	1	9.996216e-01	14	371	0	95	2								-13.539750	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.410000	0.230000	1.000000	0.390000	0.445038	0.410000	0	3.100000e-01	5.500000e-01
RNF214	257160	broad.mit.edu	37	11	117105005	117105005	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117105005T>C	ENST00000531452.1	+	2	63	c.17T>C	c.(16-18)gTt>gCt	p.V6A	RNF214_ENST00000531287.1_Missense_Mutation_p.V6A|RNF214_ENST00000300650.4_Missense_Mutation_p.V6A|PCSK7_ENST00000320934.3_5'Flank|RNF214_ENST00000530849.1_Missense_Mutation_p.V6A	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214			23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			GCGTCTGAGGTTGCTGGTGTT	0.453000																								0							SO:0001583	missense			ENST00000531452.1	1	1	hg19	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933225	0.73442	.	.	ENSG00000167257	ENST00000534428;ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.64438	-0.08;0.63;-0.1;0.63	4.86	4.86	0.63082	.	.	.	.	.	T	0.66137	0.2759	N	0.22421	0.69	0.24531	N	0.994112	B;D	0.58268	0.135;0.982	B;D	0.70227	0.037;0.968	T	0.58053	-0.7704	9	0.87932	D	0	-1.7778	10.7639	0.46281	0.0:0.0:0.0:1.0	.	6;6	B4DTD1;Q8ND24	.;RN214_HUMAN	A	6	ENSP00000435361:V6A;ENSP00000431643:V6A;ENSP00000432903:V6A;ENSP00000300650:V6A	ENSP00000300650:V6A	V	+	2	0	RNF214	116610215	0.863000	0.29885	0.960000	0.40013	0.912000	0.54170	1.284000	0.33249	2.027000	0.59764	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	1	0	1	113	554	0	149	1	9.611777e-01	8	20	0	149	2		0	0	0	0	0	2	1	1	112	544	0	145	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BACE1	23621	broad.mit.edu	37	11	117165945	117165945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117165945G>A	ENST00000313005.6	-	3	929	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1			19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			ATGTTGGCACGCACAGTGACG	0.592000																								0							SO:0001583	missense			ENST00000313005.6	1	1	hg19	CCDS8383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.390921|4.390921	0.82902|0.82902	.|.	.|.	ENSG00000186318|ENSG00000186318	ENST00000504995|ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000513780	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.052098	.|0.64402	.|D	.|0.000001	T|T	0.60996|0.60996	0.2312|0.2312	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|P;D;D;P	.|0.68039	.|0.893;0.932;0.955;0.855	T|T	0.63668|0.63668	-0.6585|-0.6585	5|10	.|0.72032	.|D	.|0.01	.|.	12.2825|12.2825	0.54771|0.54771	0.0:0.0:0.7325:0.2675|0.0:0.0:0.7325:0.2675	.|.	.|57;57;157;157	.|F8W807;E9PE65;P56817;P56817-2	.|.;.;BACE1_HUMAN;.	V|C	86|157;57;157;57;157	.|ENSP00000318585:R157C;ENSP00000431848:R157C;ENSP00000422461:R57C;ENSP00000424536:R157C	.|ENSP00000318585:R157C	A|R	-|-	2|1	0|0	BACE1|BACE1	116671155|116671155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.410000|3.410000	0.52664|0.52664	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GCG|CGT		TCGA-IB-7651-01A-11D-2154-08	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1	0	0	0	16	473	0	85	0	8.533156e-01	1	103	0	85	2		0	0	0	0	0	2	1	9.999294e-01	16	468	0	85	2								-2.842703	1	1	121412	2	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.390000	0.230000	1.000000	0.390000	0.427679	0.390000	0	3.000000e-01	5.200000e-01
BACE1	23621	broad.mit.edu	37	11	117166061	117166061	+	Missense_Mutation	SNP	G	G	A	rs17857093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117166061G>A	ENST00000313005.6	-	3	813	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000392937.6_Missense_Mutation_p.S18F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1			19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			GTATGTGCTGGACCTGTGGAA	0.537000																								0							SO:0001583	missense			ENST00000313005.6	0	1	hg19	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060153	0.93846	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.83	5.83	0.93111	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	M	0.91972	3.26	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;1.0;1.0;0.999	D	0.91198	0.4989	10	0.87932	D	0	.	19.1044	0.93287	0.0:0.0:1.0:0.0	rs17857093	18;18;118;118;118;118;118	F8W807;E9PE65;Q76KP0;P56817;P56817-3;P56817-4;P56817-2	.;.;.;BACE1_HUMAN;.;.;.	F	118;18;118;18;118;118;118	ENSP00000318585:S118F;ENSP00000431848:S118F;ENSP00000422461:S18F;ENSP00000402228:S118F;ENSP00000424536:S118F;ENSP00000403685:S118F	ENSP00000318585:S118F	S	-	2	0	BACE1	116671271	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.631000	0.98424	2.756000	0.94617	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1	0	0	0	31	155	0	37	1	9.999809e-01	5	83	0	37	2		0	0	0	0	0	2	1	1	31	154	0	36	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
CEP164	22897	broad.mit.edu	37	11	117222548	117222548	+	Silent	SNP	C	C	T	rs149281923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa			47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			ACTTCGCCAACGGGCAGTCTA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000278935.3	1	1	hg19	CCDS31683.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	1	0	1	88	381	0	86	1	8.296416e-01	5	11	0	86	2		0	0	0	0	0	2	1	1	84	370	0	86	2								-3.452650	1	1	121412	7	42	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP164	22897	broad.mit.edu	37	11	117241887	117241887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117241887G>A	ENST00000278935.3	+	9	1004	c.857G>A	c.(856-858)aGc>aAc	p.S286N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa			47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			AAGCCCTCCAGCCCAGGTGCA	0.552000																								0							SO:0001583	missense			ENST00000278935.3	1	1	hg19	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850435	0.32699	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.60299	0.2	5.8	5.8	0.92144	.	0.107151	0.42420	D	0.000712	T	0.69133	0.3077	M	0.71581	2.175	0.27288	N	0.957925	D;P;D	0.57257	0.964;0.873;0.979	P;P;P	0.56563	0.637;0.544;0.801	T	0.66333	-0.5950	10	0.51188	T	0.08	-5.5206	13.2253	0.59911	0.0:0.1592:0.8408:0.0	.	260;286;286	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	N	286;260;213	ENSP00000278935:S286N	ENSP00000278935:S286N	S	+	2	0	CEP164	116747097	0.868000	0.29978	0.837000	0.33122	0.058000	0.15608	2.306000	0.43673	2.732000	0.93576	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	1	0	1	93	485	0	107	1	9.755935e-01	9	24	0	107	2		0	0	0	0	0	2	1	1	91	475	0	107	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSCAML1	57453	broad.mit.edu	37	11	117302397	117302397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117302397G>A	ENST00000321322.6	-	31	5408	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			CTTGAGTACCGGTTCCGGGTG	0.602000																								0							SO:0001583	missense			ENST00000321322.6	1	1	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675749	0.67928	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66099	-0.15;-0.19	4.82	4.82	0.62117	.	.	.	.	.	T	0.65365	0.2684	N	0.24115	0.695	0.58432	D	0.99999	D	0.76494	0.999	D	0.71184	0.972	T	0.68659	-0.5350	9	0.87932	D	0	.	11.7516	0.51852	0.0:0.0:0.7044:0.2956	.	1743	Q8TD84	DSCL1_HUMAN	W	1533;1803;1510	ENSP00000434335:R1533W;ENSP00000315465:R1803W	ENSP00000315465:R1803W	R	-	1	2	DSCAML1	116807607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.224000	0.42945	2.499000	0.84300	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	0	48	572	0	117		0	0	0	0	117	2		0	0	0	0	0	2	1	1	47	556	0	115	2								-2.879461	1	1	121406	1	19	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.910000	0.680000	1.000000	1.000000	0.905129	0.910000	1	7.900000e-01	1
DSCAML1	57453	broad.mit.edu	37	11	117303203	117303203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117303203T>G	ENST00000321322.6	-	30	5225	c.5224A>C	c.(5224-5226)Atc>Ctc	p.I1742L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			GTCACAGGGATGGTGGCCTTG	0.488000																								0							SO:0001583	missense			ENST00000321322.6	1	1	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674435	0.47781	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.62364	0.07;0.03	5.54	5.54	0.83059	.	.	.	.	.	T	0.40522	0.1120	N	0.08118	0	0.39866	D	0.973441	B	0.06786	0.001	B	0.10450	0.005	T	0.34725	-0.9817	9	0.27785	T	0.31	.	10.5674	0.45181	0.1441:0.0:0.0:0.8559	.	1682	Q8TD84	DSCL1_HUMAN	L	1472;1742;1449	ENSP00000434335:I1472L;ENSP00000315465:I1742L	ENSP00000315465:I1742L	I	-	1	0	DSCAML1	116808413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.692000	0.47018	2.097000	0.63578	0.482000	0.46254	ATC		TCGA-IB-7651-01A-11D-2154-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1	57	351	0	77	0	2.030740e-02	0	2	0	77	2		0	0	0	0	0	2	1	1	54	337	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
DSCAML1	57453	broad.mit.edu	37	11	117308099	117308099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117308099G>A	ENST00000321322.6	-	26	4640	c.4639C>T	c.(4639-4641)Ctc>Ttc	p.L1547F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			TGGGTGAAGAGGTGTTGGTCT	0.592000																								0							SO:0001583	missense			ENST00000321322.6	1	1	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742166	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.54479	0.57;0.57	4.45	4.45	0.53987	Fibronectin, type III (4);	.	.	.	.	T	0.68659	0.3025	M	0.75447	2.3	0.58432	D	0.999995	P	0.49185	0.92	P	0.57620	0.824	T	0.71244	-0.4650	9	0.44086	T	0.13	.	17.4654	0.87631	0.0:0.0:1.0:0.0	.	1487	Q8TD84	DSCL1_HUMAN	F	1277;1547;1254	ENSP00000434335:L1277F;ENSP00000315465:L1547F	ENSP00000315465:L1547F	L	-	1	0	DSCAML1	116813309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.211000	0.51137	2.195000	0.70347	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	0	0	1	71	382	1	95	0	0	0	1	1	95	2		0	0	0	0	0	2	1	1	70	370	1	95	16								-20.000000	1	1	121412	1	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSCAML1	57453	broad.mit.edu	37	11	117392003	117392003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117392003G>A	ENST00000321322.6	-	6	1236	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			CACCAGCTCCGTGTTGCGATA	0.627000																								0							SO:0001583	missense			ENST00000321322.6	1	1	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193169	0.78902	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.30182	1.54;1.54	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51873	0.1700	L	0.58810	1.83	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;D	0.66847	0.912;0.947	T	0.55945	-0.8060	9	0.87932	D	0	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	142;352	G3V1B5;Q8TD84	.;DSCL1_HUMAN	M	142;412;119	ENSP00000434335:T142M;ENSP00000315465:T412M	ENSP00000315465:T412M	T	-	2	0	DSCAML1	116897213	1.000000	0.71417	0.942000	0.38095	0.958000	0.62258	6.316000	0.72857	2.417000	0.82017	0.609000	0.83330	ACG		TCGA-IB-7651-01A-11D-2154-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1	128	466	0	107	0	4.697400e-02	0	2	0	107	2		0	0	0	0	0	2	1	1	126	460	0	106	2								-4.101446	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSCAML1	57453	broad.mit.edu	37	11	117403205	117403205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117403205G>T	ENST00000321322.6	-	4	725	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			GAGATGTACAGCCCGCCGTGG	0.547000																								0							SO:0001583	missense			ENST00000321322.6	1	1	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211823	0.79240	.	.	ENSG00000177103	ENST00000321322	D	0.92149	-2.98	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96213	0.8765	M	0.91972	3.26	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.96062	0.9039	9	0.87932	D	0	.	9.6034	0.39619	0.1263:0.0:0.8737:0.0	.	182	Q8TD84	DSCL1_HUMAN	M	242	ENSP00000315465:L242M	ENSP00000315465:L242M	L	-	1	2	DSCAML1	116908415	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.166000	0.71896	2.688000	0.91661	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	0	15	319	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	9.998424e-01	15	307	0	57	2								-2.887082	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.540000	0.310000	1.000000	0.530000	0.571369	0.540000	0	4.100000e-01	7.100000e-01
DSCAML1	57453	broad.mit.edu	37	11	117651219	117651219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117651219C>T	ENST00000321322.6	-	2	534	c.533G>A	c.(532-534)cGc>cAc	p.R178H	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			TGCTTTGACGCGGATGTTGGG	0.587000																								0							SO:0001583	missense			ENST00000321322.6	1	1	hg19	CCDS8384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.48|10.48	1.363367|1.363367	0.24684|0.24684	.|.	.|.	ENSG00000177103|ENSG00000177103	ENST00000525836|ENST00000321322	.|T	.|0.39997	.|1.05	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.01771|0.01771	-0.73|-0.73	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.14783|0.14783	-1.0460|-1.0460	6|9	0.87932|0.09843	D|T	0|0.71	.|.	18.9124|18.9124	0.92491|0.92491	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|118	.|Q8TD84	.|DSCL1_HUMAN	T|H	20|178	.|ENSP00000315465:R178H	ENSP00000436387:A20T|ENSP00000315465:R178H	A|R	-|-	1|2	0|0	DSCAML1|DSCAML1	117156429|117156429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.436000|2.436000	0.44819|0.44819	2.536000|2.536000	0.85505|0.85505	0.563000|0.563000	0.77884|0.77884	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1	141	650	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	1	141	635	0	106	2								-3.251124	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL10RA	3587	broad.mit.edu	37	11	117860269	117860269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117860269C>T	ENST00000227752.3	+	3	421	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha			19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			GGCCAGAGTGCGGGCTGTGGA	0.577000																								0							SO:0001583	missense			ENST00000227752.3	1	1	hg19	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018503	0.75275	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.77489	-1.1;-1.1	4.95	3.98	0.46160	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.065623	0.64402	D	0.000007	D	0.86293	0.5898	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87381	0.2357	10	0.72032	D	0.01	-30.1496	12.4145	0.55486	0.1665:0.8335:0.0:0.0	.	81;101	F5GYV8;Q13651	.;I10R1_HUMAN	W	101;81;81	ENSP00000227752:R101W;ENSP00000441397:R81W	ENSP00000227752:R101W	R	+	1	2	IL10RA	117365479	0.998000	0.40836	0.997000	0.53966	0.013000	0.08279	0.814000	0.27239	2.461000	0.83175	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1	1	0	1	37	318	0	74	1	9.993729e-01	2	96	0	74	2		0	0	0	0	0	2	1	1	37	314	0	74	2								-2.966611	1	1	121412	1	37	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.890000	1.000000	1.000000	0.993050	0.990000	1	9.900000e-01	1
IL10RA	3587	broad.mit.edu	37	11	117869470	117869470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117869470G>A	ENST00000227752.3	+	7	971	c.851G>A	c.(850-852)cGt>cAt	p.R284H	IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha			19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			ATCAGCCAGCGTCCCTCCCCA	0.582000																								0							SO:0001583	missense			ENST00000227752.3	1	1	hg19	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152097	0.21371	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.24538	1.85;1.85;1.85	5.26	-3.16	0.05217	.	4.015810	0.00166	N	0.000015	T	0.15046	0.0363	N	0.22421	0.69	0.09310	N	1	D;D	0.57571	0.98;0.965	P;B	0.44597	0.454;0.266	T	0.21314	-1.0249	10	0.15499	T	0.54	-0.0195	1.5109	0.02496	0.1162:0.2378:0.2516:0.3945	.	264;284	F5GYV8;Q13651	.;I10R1_HUMAN	H	284;264;135;264	ENSP00000227752:R284H;ENSP00000441397:R264H;ENSP00000443019:R135H	ENSP00000227752:R284H	R	+	2	0	IL10RA	117374680	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	-1.174000	0.03105	-0.149000	0.11215	-0.457000	0.05445	CGT		TCGA-IB-7651-01A-11D-2154-08	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1	1	0	1	52	249	0	45	1	1	5	165	0	45	2		0	0	0	0	0	2	1	1	50	240	0	44	2								-20.000000	1	1	121412	8	41	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS4	56649	broad.mit.edu	37	11	117975511	117975511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117975511C>T	ENST00000437212.3	+	5	630	c.416C>T	c.(415-417)gCc>gTc	p.A139V	TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.A137V			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4			19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)			GCTGAGACAGCCTGTAGGCAG	0.562000																								0							SO:0001583	missense			ENST00000437212.3	1	1	hg19	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820641	0.50633	.	.	ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.16	5.16	0.70880	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.56097	D	0.000026	T	0.65984	0.2744	M	0.65975	2.015	0.46167	D	0.998909	P;D;D;D	0.89917	0.929;1.0;0.997;1.0	P;D;P;D	0.97110	0.591;0.997;0.788;1.0	T	0.63734	-0.6570	10	0.33940	T	0.23	.	15.5649	0.76284	0.0:1.0:0.0:0.0	.	114;99;139;137	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3	.;.;TMPS4_HUMAN;.	V	137;99;139;139;86	ENSP00000435184:A137V;ENSP00000429209:A99V;ENSP00000416037:A139V;ENSP00000430547:A139V;ENSP00000428407:A86V	ENSP00000416037:A139V	A	+	2	0	TMPRSS4	117480721	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.113000	0.64640	2.403000	0.81681	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	1	0	1	23	212	0	53	1	1	171	862	0	53	2		0	0	0	0	0	2	1	9.999994e-01	23	207	0	52	2								-3.318800	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.760000	1.000000	1.000000	0.975225	0.990000	1	9.400000e-01	1
SCN4B	6330	broad.mit.edu	37	11	118015933	118015933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118015933G>A	ENST00000324727.4	-	2	219	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit			7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTACGGGGAGCAGGAAGAGG	0.607000											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000324727.4	1	1	hg19	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.036964	0.19669	.	.	ENSG00000177098	ENST00000324727	D	0.97976	-4.64	5.26	0.672	0.17935	.	0.656184	0.14631	N	0.307802	D	0.92522	0.7625	L	0.35723	1.085	0.23798	N	0.996815	B	0.06786	0.001	B	0.06405	0.002	T	0.81810	-0.0762	10	0.11794	T	0.64	-22.7509	3.3839	0.07264	0.117:0.4645:0.2591:0.1595	.	25	Q8IWT1	SCN4B_HUMAN	F	25	ENSP00000322460:L25F	ENSP00000322460:L25F	L	-	1	0	SCN4B	117521143	0.997000	0.39634	0.956000	0.39512	0.350000	0.29205	0.501000	0.22578	0.592000	0.29728	-0.175000	0.13238	CTC		TCGA-IB-7651-01A-11D-2154-08	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1	1	0	1	68	296	0	59	0	5.262541e-01	0	9	0	59	2		0	0	0	0	0	2	1	1	67	281	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN2B	6327	broad.mit.edu	37	11	118038968	118038968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118038968G>A	ENST00000278947.5	-	3	521	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit			7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTGAAACCGCTCCAGCTTC	0.542000																								0							SO:0001583	missense			ENST00000278947.5	1	1	hg19	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290144	0.80914	.	.	ENSG00000149575	ENST00000278947	T	0.68181	-0.31	4.9	1.91	0.25777	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.174836	0.51477	D	0.000083	T	0.77412	0.4126	M	0.80616	2.505	0.58432	D	0.999999	D	0.71674	0.998	P	0.57502	0.822	T	0.79600	-0.1736	10	0.62326	D	0.03	-27.973	13.5706	0.61845	0.0:0.0:0.5934:0.4066	.	94	O60939	SCN2B_HUMAN	W	94	ENSP00000278947:R94W	ENSP00000278947:R94W	R	-	1	2	SCN2B	117544178	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.036000	0.64164	0.237000	0.21200	-0.169000	0.13324	CGG		TCGA-IB-7651-01A-11D-2154-08	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	1	0	0	24	281	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	9.999996e-01	24	272	0	59	2								-3.221881	1	1	121412	2	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.940000	0.620000	1.000000	1.000000	0.901247	0.940000	1	7.600000e-01	1
SCN2B	6327	broad.mit.edu	37	11	118039321	118039321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118039321G>A	ENST00000278947.5	-	2	457	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit			7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAGTTGTTGCACTCCTGGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000278947.5	1	1	hg19	CCDS8390.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	1	0	1	163	638	0	140	0	0	0	1	0	140	2		0	0	0	0	0	2	1	1	160	627	0	138	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMICA1	120425	broad.mit.edu	37	11	118068807	118068807	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118068807C>A	ENST00000356289.5	-	8	1085		c.e8-1		AMICA1_ENST00000292067.7_Splice_Site|AMICA1_ENST00000533261.1_Splice_Site|AMICA1_ENST00000526620.1_Splice_Site	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1			20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)			ATTCACTGAACTGCAAGACAT	0.443000											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000356289.5	1	1	hg19	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880212	0.33162	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9351	0.52868	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMICA1	117574017	0.983000	0.35010	0.958000	0.39756	0.021000	0.10359	3.018000	0.49625	2.527000	0.85204	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	1	0	1	96	428	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	1	91	423	0	103	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD3E	916	broad.mit.edu	37	11	118179150	118179150	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118179150G>T	ENST00000361763.4	+	4	370	c.79G>T	c.(79-81)Gaa>Taa	p.E27*	CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)			8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		Muromonab(DB00075)	AGGTAATGAAGAAATGGGTAA	0.393000																								0							SO:0001587	stop_gained			ENST00000361763.4	0	1	hg19	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135106	0.56828	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	.	.	.	4.19	0.081	0.14423	.	3.197390	0.00919	N	0.002561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.1578	0.10270	0.2967:0.1715:0.5318:0.0	.	.	.	.	X	27	.	ENSP00000354566:E27X	E	+	1	0	CD3E	117684360	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.268000	0.02836	0.027000	0.15297	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	0	0	0	5	37	0	27	0	9.974838e-01	0	105	0	27	2		0	0	0	0	0	2	1	9.415956e-01	5	37	0	27	2								-11.133660	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.550000	1.000000	1.000000	0.950309	0.990000	1	8.900000e-01	1
UBE4A	9354	broad.mit.edu	37	11	118247314	118247314	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118247314C>A	ENST00000431736.2	+	10	1569	c.1497C>A	c.(1495-1497)atC>atA	p.I499I	UBE4A_ENST00000545354.1_5'Flank|UBE4A_ENST00000252108.3_Silent_p.I492I					ubiquitination factor E4A			56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)			CCTGTTTGATCCCAGCTGTGC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000431736.2	1	1	hg19	CCDS8396.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	1	0	0	106	454	0	104	1	9.999877e-01	8	63	0	104	2		0	0	0	0	0	2	1	1	98	434	0	103	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBE4A	9354	broad.mit.edu	37	11	118263583	118263583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118263583G>A	ENST00000431736.2	+	19	3140	c.3068G>A	c.(3067-3069)aGa>aAa	p.R1023K	UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K|UBE4A_ENST00000252108.3_Missense_Mutation_p.R1016K					ubiquitination factor E4A			56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)			ACTGTGGATAGATCCACCATT	0.458000																								0							SO:0001583	missense			ENST00000431736.2	1	1	hg19	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884896	0.97068	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.68181	-0.27;-0.31	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	M	0.82823	2.61	0.80722	D	1	P;D	0.52996	0.926;0.957	P;P	0.51866	0.682;0.6	T	0.80625	-0.1299	10	0.52906	T	0.07	-8.8278	20.3734	0.98896	0.0:0.0:1.0:0.0	.	1016;1023	Q14139;Q14139-2	UBE4A_HUMAN;.	K	1016;1023;488	ENSP00000252108:R1016K;ENSP00000387362:R1023K	ENSP00000252108:R1016K	R	+	2	0	UBE4A	117768793	1.000000	0.71417	0.910000	0.35882	0.996000	0.88848	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	1	0	1	100	466	0	119	1	1	41	72	0	119	2		0	0	0	0	0	2	1	1	97	461	0	118	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT46	56912	broad.mit.edu	37	11	118425964	118425964	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118425964T>G	ENST00000264021.3	-	5	677	c.259A>C	c.(259-261)Agg>Cgg	p.R87R	IFT46_ENST00000530872.1_Splice_Site_p.R138R|IFT46_ENST00000264020.2_Splice_Site_p.R138R	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46			9					AGTACTCACCTACTGATGTAC	0.463000																								0							SO:0001630	splice_region_variant			ENST00000264021.3	1	0	hg19	CCDS53718.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	1	0	1	60	291	0	74	1	9.999998e-01	22	92	0	74	2		0	0	0	0	0	2	1	1	59	283	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARCN1	372	broad.mit.edu	37	11	118453977	118453977	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118453977C>T	ENST00000264028.4	+	3	446	c.351C>T	c.(349-351)gtC>gtT	p.V117V	ARCN1_ENST00000359415.4_Silent_p.V158V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V29V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1			13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)			ATGAAATTGTCGCACTGGGAT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000264028.4	1	1	hg19	CCDS8400.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1	1	0	1	70	321	0	67	1	1	149	413	0	67	2		0	0	0	0	0	2	1	1	70	318	0	67	2								-3.093078	1	1	121412	5	41	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARCN1	372	broad.mit.edu	37	11	118454554	118454554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118454554C>T	ENST00000264028.4	+	4	573	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	ARCN1_ENST00000359415.4_Missense_Mutation_p.R201C|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1			13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)			GGCTGAGATGCGTCGTAAAGC	0.443000																								0							SO:0001583	missense			ENST00000264028.4	1	1	hg19	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020500	0.75275	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000542521;ENST00000264028	T;T;T	0.33216	1.43;1.42;1.43	6.01	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.989	P;P;P	0.58266	0.548;0.836;0.517	T	0.57075	-0.7873	10	0.87932	D	0	-12.0251	16.3526	0.83220	0.3535:0.6465:0.0:0.0	.	72;201;160	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	C	72;201;160;160	ENSP00000376599:R72C;ENSP00000352385:R201C;ENSP00000264028:R160C	ENSP00000264028:R160C	R	+	1	0	ARCN1	117959764	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.781000	0.38644	0.846000	0.35142	-0.175000	0.13238	CGT		TCGA-IB-7651-01A-11D-2154-08	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1	1	0	1	38	406	0	85	1	1	68	534	0	85	2		0	0	0	0	0	2	1	1	39	395	0	83	2								-2.744762	1	1	121412	2	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.730000	1.000000	1.000000	0.950597	0.990000	1	8.600000e-01	1
PHLDB1	23187	broad.mit.edu	37	11	118498785	118498785	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118498785C>T	ENST00000361417.2	+	7	1657	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	PHLDB1_ENST00000356063.5_Silent_p.L416L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	p.L416V(1)		46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)			TGAGCGGGTGCTAACAACCAG	0.637000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000361417.2	1	1	hg19	CCDS8401.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	1	0	1	172	726	0	162	1	1	8	107	0	162	2		0	0	0	0	0	2	1	1	172	710	0	161	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB1	23187	broad.mit.edu	37	11	118502965	118502965	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118502965G>T	ENST00000361417.2	+	10	2742	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1			46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)			ATCAGCTGCAGGAGAAGCTGG	0.627000																								0							SO:0001583	missense			ENST00000361417.2	1	1	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557486	0.65425	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.32515	1.45;1.45	5.15	4.24	0.50183	.	0.113485	0.64402	D	0.000008	T	0.45538	0.1347	L	0.42686	1.345	0.80722	D	1	D;D;D;B	0.76494	0.984;0.999;0.995;0.267	P;D;D;B	0.70935	0.73;0.971;0.919;0.086	T	0.32214	-0.9915	10	0.42905	T	0.14	-32.3819	13.8592	0.63550	0.0736:0.0:0.9264:0.0	.	521;777;777;777	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	H	777;536;99;777	ENSP00000354498:Q777H;ENSP00000348359:Q777H	ENSP00000348359:Q777H	Q	+	3	2	PHLDB1	118008175	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.264000	0.65513	1.182000	0.42928	-0.254000	0.11334	CAG		TCGA-IB-7651-01A-11D-2154-08	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	1	0	1	51	249	0	66	1	1	7	149	0	66	2		0	0	0	0	0	2	1	1	49	245	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB1	23187	broad.mit.edu	37	11	118521155	118521155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118521155C>A	ENST00000361417.2	+	21	4188	c.3777C>A	c.(3775-3777)tgC>tgA	p.C1259*	PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*|PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1			46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)			ACCAGGTCTGCCGTGGCTACT	0.522000																								0							SO:0001587	stop_gained			ENST00000361417.2	0	1	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804019	0.96967	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.941	16.4284	0.83832	0.0:1.0:0.0:0.0	.	.	.	.	X	1259;1033;623;1212;310;402	.	ENSP00000348359:C1212X	C	+	3	2	PHLDB1	118026365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.831000	0.55776	2.401000	0.81631	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	0	0	0	43	442	0	97	1	1	3	279	0	97	2		0	0	0	0	0	2	1	1	42	438	0	97	2								-12.448150	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.770000	1.000000	1.000000	0.966069	0.990000	1	9.000000e-01	1
DDX6	1656	broad.mit.edu	37	11	118625471	118625471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118625471G>A	ENST00000526070.2	-	13	1762	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	DDX6_ENST00000534980.1_Silent_p.L468L|DDX6_ENST00000264018.4_Silent_p.L468L	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6			13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)			GCCACATACAGGCTCTTATCA	0.428000			T	IGH@	B-NHL										Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0							SO:0001819	synonymous_variant			ENST00000526070.2	1	1	hg19	CCDS44751.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	0	0	1	116	586	0	110	1	1	58	218	0	110	2		0	0	0	0	0	2	1	1	113	579	0	109	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL9L	283149	broad.mit.edu	37	11	118769762	118769762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118769762G>A	ENST00000334801.3	-	8	4826	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like			56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)			TCGCCCATGCGCCCAGCCATG	0.692000																								0							SO:0001583	missense			ENST00000334801.3	1	1	hg19	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566358	0.45694	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.64803	-0.12	3.08	3.08	0.35506	.	0.179734	0.26159	N	0.025993	T	0.48840	0.1522	N	0.08118	0	0.58432	D	0.999997	D;B	0.65815	0.995;0.291	P;B	0.50754	0.649;0.022	T	0.55554	-0.8123	10	0.48119	T	0.1	-8.6842	12.4142	0.55483	0.0:0.0:1.0:0.0	.	1283;1288	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	C	1288;1251;534;1288;1243	ENSP00000335320:R1288C	ENSP00000335320:R1288C	R	-	1	0	BCL9L	118274972	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.182000	0.50910	2.016000	0.59253	0.305000	0.20034	CGC		TCGA-IB-7651-01A-11D-2154-08	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1	26	98	0	19	1	9.999997e-01	30	73	0	19	2		0	0	0	0	0	2	1	1	26	94	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
BCL9L	283149	broad.mit.edu	37	11	118770898	118770898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118770898G>A	ENST00000334801.3	-	7	4098	c.3134C>T	c.(3133-3135)cCg>cTg	p.P1045L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like			56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)			GCCGCTAGGCGGGAGGGTACC	0.627000																								0							SO:0001583	missense			ENST00000334801.3	1	1	hg19	CCDS8403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988417|2.988417	0.53934|0.53934	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085|ENST00000530293	T|.	0.42513|.	0.97|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.000000|.	0.43747|.	D|.	0.000530|.	T|T	0.46347|0.46347	0.1388|0.1388	N|N	0.11560|0.11560	0.145|0.145	0.46586|0.46586	D|D	0.999118|0.999118	D;D|.	0.61080|.	0.989;0.981|.	P;B|.	0.48840|.	0.592;0.388|.	T|T	0.42632|0.42632	-0.9440|-0.9440	10|5	0.87932|.	D|.	0|.	-12.8441|-12.8441	17.1466|17.1466	0.86767|0.86767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1040;1045|.	Q86UU0-2;Q86UU0|.	.;BCL9L_HUMAN|.	L|C	1045;1008;338;1045;1045|65	ENSP00000335320:P1045L|.	ENSP00000335320:P1045L|.	P|R	-|-	2|1	0|0	BCL9L|BCL9L	118276108|118276108	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	5.300000|5.300000	0.65721|0.65721	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	CCG|CGC		TCGA-IB-7651-01A-11D-2154-08	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1	23	181	0	30	1	9.999999e-01	74	165	0	30	2		0	0	0	0	0	2	1	9.999994e-01	23	175	0	29	2								-3.076013	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.880000	1.000000	1.000000	0.992807	0.990000	1	9.900000e-01	1
BCL9L	283149	broad.mit.edu	37	11	118772082	118772082	+	Silent	SNP	C	C	T	rs149374315	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118772082C>T	ENST00000334801.3	-	6	3334	c.2370G>A	c.(2368-2370)ccG>ccA	p.P790P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like			56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)			TCTGCTGCTGCGGGGTCATCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000334801.3	1	0	hg19	CCDS8403.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1	49	233	0	42	1	1	50	129	0	42	2		0	0	0	0	0	2	1	1	47	225	0	40	2								-3.125431	1	1	121410	241	56	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL9L	283149	broad.mit.edu	37	11	118772712	118772712	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118772712C>T	ENST00000334801.3	-	6	2704	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like			56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)			TGGGCCCCCGCAGCTGCGCAC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000334801.3	1	1	hg19	CCDS8403.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	1	24	136	0	23	1	9.999999e-01	51	112	0	23	2		0	0	0	0	0	2	1	9.999998e-01	24	136	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999742	0.990000	1	9.900000e-01	1
BCL9L	283149	broad.mit.edu	37	11	118773616	118773616	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118773616G>T	ENST00000334801.3	-	6	1800	c.836C>A	c.(835-837)gCc>gAc	p.A279D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like			56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)			CACTTTAGGGGCCTGCAGAAG	0.677000																								0							SO:0001630	splice_region_variant			ENST00000334801.3	1	0	hg19	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296060	0.23650	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.65549	-0.16	4.1	2.22	0.28083	.	0.000000	0.44902	D	0.000418	T	0.40473	0.1118	N	0.24115	0.695	0.27323	N	0.956973	P;B	0.35575	0.51;0.376	B;B	0.34931	0.192;0.094	T	0.21552	-1.0242	10	0.17832	T	0.49	-2.3448	6.8377	0.23945	0.2935:0.0:0.7065:0.0	.	274;279	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	D	279;242;279;279	ENSP00000335320:A279D	ENSP00000335320:A279D	A	-	2	0	BCL9L	118278826	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	3.457000	0.53007	0.403000	0.25479	0.305000	0.20034	GCC		TCGA-IB-7651-01A-11D-2154-08	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	1	0	0	18	91	0	23	1	9.973999e-01	13	40	0	23	2		0	0	0	0	0	2	1	9.999856e-01	18	87	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999611	0.990000	1	9.900000e-01	1
CCDC84	338657	broad.mit.edu	37	11	118881506	118881506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118881506C>T	ENST00000334418.1	+	4	472	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84			5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)			GGTTTGGATTCCTATGAAGAA	0.438000																								0							SO:0001583	missense			ENST00000334418.1	1	1	hg19	CCDS8405.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022775	0.75275	.	.	ENSG00000186166	ENST00000334418	T	0.45668	0.89	5.47	5.47	0.80525	.	0.438718	0.25419	N	0.030807	T	0.46464	0.1394	L	0.44542	1.39	0.33287	D	0.563067	P	0.39883	0.693	P	0.46975	0.533	T	0.60994	-0.7152	10	0.62326	D	0.03	-13.1838	14.8245	0.70101	0.0:1.0:0.0:0.0	.	139	Q86UT8	CCD84_HUMAN	F	139	ENSP00000334767:S139F	ENSP00000334767:S139F	S	+	2	0	CCDC84	118386716	0.978000	0.34361	1.000000	0.80357	0.924000	0.55760	1.030000	0.30153	2.573000	0.86826	0.563000	0.77884	TCC		TCGA-IB-7651-01A-11D-2154-08	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	1	0	1	39	238	0	57	1	9.945933e-01	14	38	0	57	2		0	0	0	0	0	2	1	1	37	236	0	57	2								-3.224593	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
HYOU1	10525	broad.mit.edu	37	11	118919076	118919076	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118919076G>A	ENST00000404233.3	-	20	2384	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Silent_p.L692L|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Silent_p.L692L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1			33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)			GGCTGGTACAGCTTGTCCTGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000404233.3	1	1	hg19	CCDS8408.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	1	0	1	107	423	0	110	1	1	153	380	0	110	2		0	0	0	0	0	2	1	1	106	420	0	109	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS11	55823	broad.mit.edu	37	11	118949921	118949921	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118949921C>T	ENST00000300793.6	+	15	2388	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)			29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			AGAAACAGAGCCAGCAGATTG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000300793.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	24	97	0	25	1	1	34	138	0	25	2		0	0	0	0	0	2	1	9.999998e-01	24	95	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
C2CD2L	9854	broad.mit.edu	37	11	118983078	118983078	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983078C>A	ENST00000528586.1	+	4	374	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	C2CD2L_ENST00000336702.3_Missense_Mutation_p.L354M			O14523	C2C2L_HUMAN	C2CD2-like			13					CCTCAAAGTGCTGAGGAGCAG	0.617000																								0							SO:0001583	missense			ENST00000528586.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.69	3.193660	0.58017	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.39997	1.05;1.05	5.23	5.23	0.72850	C2 calcium/lipid-binding domain, CaLB (1);	0.248717	0.34200	N	0.004165	T	0.40347	0.1113	L	0.27053	0.805	0.40008	D	0.975241	P;P	0.37158	0.585;0.585	P;P	0.48425	0.577;0.577	T	0.19160	-1.0314	10	0.31617	T	0.26	-18.7603	11.3936	0.49827	0.0:0.9181:0.0:0.0819	.	354;354	O14523;O14523-2	C2C2L_HUMAN;.	M	354;102	ENSP00000338885:L354M;ENSP00000433600:L102M	ENSP00000338885:L354M	L	+	1	2	C2CD2L	118488288	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.738000	0.26158	2.731000	0.93534	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	1	0	1	38	214	0	51	1	9.715576e-01	5	30	0	51	2		0	0	0	0	0	2	1	1	37	211	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
C2CD2L	9854	broad.mit.edu	37	11	118983574	118983574	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983574C>T	ENST00000528586.1	+	6	691	c.621C>T	c.(619-621)gaC>gaT	p.D207D	C2CD2L_ENST00000336702.3_Silent_p.D459D			O14523	C2C2L_HUMAN	C2CD2-like			13					CCCGTATAGACGGCAAATTAG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000528586.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	1	0	1	30	248	0	59	1	9.931972e-01	7	60	0	59	2		0	0	0	0	0	2	1	1	30	240	0	57	2								-7.904426	1	1	121412	13	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.890000	1.000000	1.000000	0.993193	0.990000	1	9.900000e-01	1
C2CD2L	9854	broad.mit.edu	37	11	118984415	118984415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984415C>T	ENST00000528586.1	+	7	796	c.726C>T	c.(724-726)agC>agT	p.S242S	C2CD2L_ENST00000336702.3_Silent_p.S494S			O14523	C2C2L_HUMAN	C2CD2-like			13					CCTCCCATAGCAGCAGCCGTG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000528586.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	1	0	0	72	351	0	81	1	9.999463e-01	17	55	0	81	2		0	0	0	0	0	2	1	1	70	348	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2CD2L	9854	broad.mit.edu	37	11	118984608	118984608	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984608A>G	ENST00000528586.1	+	8	847	c.777A>G	c.(775-777)acA>acG	p.T259T	C2CD2L_ENST00000336702.3_Silent_p.T512T			O14523	C2C2L_HUMAN	C2CD2-like			13					TAGCAGAGACAGCGATTCGCC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000528586.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	1	0	1	54	285	0	74	1	9.994891e-01	10	51	0	74	2		0	0	0	0	0	2	1	1	51	278	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HINFP	25988	broad.mit.edu	37	11	119003275	119003275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003275G>A	ENST00000350777.2	+	6	809	c.746G>A	c.(745-747)cGc>cAc	p.R249H	HINFP_ENST00000527410.1_Missense_Mutation_p.R249H	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor			23					GACCACATGCGCAACCATGGT	0.582000																								0							SO:0001583	missense			ENST00000350777.2	1	1	hg19	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015527	0.93404	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.02085	4.46;4.46	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.00038	-1.2244	10	0.87932	D	0	-29.5397	18.6818	0.91548	0.0:0.0:1.0:0.0	.	249	Q9BQA5	HINFP_HUMAN	H	249	ENSP00000318085:R249H;ENSP00000436815:R249H	ENSP00000318085:R249H	R	+	2	0	HINFP	118508485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.971000	0.93419	2.665000	0.90641	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	1	0	1	100	474	0	112	1	9.972396e-01	8	36	0	112	2		0	0	0	0	0	2	1	1	100	449	0	111	2								-3.250363	1	1	121412	2	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HINFP	25988	broad.mit.edu	37	11	119003439	119003439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003439C>T	ENST00000350777.2	+	7	886	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	HINFP_ENST00000527410.1_Missense_Mutation_p.R275C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor			23					CAACCACATGCGCTTTCGTCA	0.542000																								0							SO:0001583	missense			ENST00000350777.2	1	1	hg19	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217362	0.79352	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.58506	0.33;0.33	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048851	0.85682	D	0.000000	T	0.80555	0.4645	M	0.86651	2.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.83168	-0.0095	10	0.87932	D	0	-32.0835	19.8599	0.96779	0.0:1.0:0.0:0.0	.	275	Q9BQA5	HINFP_HUMAN	C	275	ENSP00000318085:R275C;ENSP00000436815:R275C	ENSP00000318085:R275C	R	+	1	0	HINFP	118508649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.682000	0.68182	2.710000	0.92621	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	0	0	0	19	601	1	131	0	1.712042e-01	2	64	1	131	4		0	0	0	0	0	2	1	6.779165e-01	18	594	1	126	17								-2.932978	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.370000	0.220000	1.000000	0.360000	0.400641	0.370000	0	2.900000e-01	4.700000e-01
HINFP	25988	broad.mit.edu	37	11	119003857	119003857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003857G>A	ENST00000350777.2	+	9	1130	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	p.R356Q(1)		23					TGCTTCACACGGGGCAACAAC	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000350777.2	1	1	hg19	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966882	0.92855	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.56941	0.43;0.43	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	N	0.20401	0.57	0.43841	D	0.996426	D	0.89917	1.0	D	0.72625	0.978	T	0.55134	-0.8188	10	0.24483	T	0.36	-25.9598	19.6517	0.95819	0.0:0.0:1.0:0.0	.	356	Q9BQA5	HINFP_HUMAN	Q	356	ENSP00000318085:R356Q;ENSP00000436815:R356Q	ENSP00000318085:R356Q	R	+	2	0	HINFP	118509067	1.000000	0.71417	0.906000	0.35671	0.978000	0.69477	9.363000	0.97131	2.662000	0.90505	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	1	0	1	132	574	0	128	1	9.992644e-01	14	34	0	128	2		0	0	0	0	0	2	1	1	128	563	0	128	2								-2.356170	0	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HINFP	25988	broad.mit.edu	37	11	119004915	119004915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119004915G>A	ENST00000350777.2	+	10	1324	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor			23					GTCGCTGAACGAGAGCAGCCT	0.587000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000350777.2	1	1	hg19	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491058	0.64074	.	.	ENSG00000172273	ENST00000350777	T	0.08896	3.04	5.31	5.31	0.75309	.	0.085034	0.47455	D	0.000228	T	0.06142	0.0159	L	0.29908	0.895	0.80722	D	1	D	0.52996	0.957	B	0.38194	0.267	T	0.34675	-0.9819	10	0.06494	T	0.89	-27.8494	17.3417	0.87298	0.0:0.0:1.0:0.0	.	421	Q9BQA5	HINFP_HUMAN	K	421	ENSP00000318085:E421K	ENSP00000318085:E421K	E	+	1	0	HINFP	118510125	1.000000	0.71417	0.982000	0.44146	0.911000	0.54048	5.614000	0.67695	2.779000	0.95612	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	1	0	1	57	221	0	52	1	9.998991e-01	17	39	0	52	2		0	0	0	0	0	2	1	1	56	221	0	52	2								-20.000000	1	1	121412	1	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119030980C>T	ENST00000449422.2	+	13	1669	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	p.T494M(1)		44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			TACTGGATGACGGGCCAGCCC	0.647000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000449422.2	1	1	hg19	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223466	0.95139	2.27E-4	0.0	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86992	0.2111	10	0.87932	D	0	-9.1283	18.9923	0.92798	0.0:1.0:0.0:0.0	.	494	Q9H172	ABCG4_HUMAN	M	494	ENSP00000304111:T494M;ENSP00000406874:T494M;ENSP00000434318:T494M	ENSP00000304111:T494M	T	+	2	0	ABCG4	118536190	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.629000	0.83207	2.720000	0.93068	0.558000	0.71614	ACG		TCGA-IB-7651-01A-11D-2154-08	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	1	0	1	83	463	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	1	81	460	0	90	2								-3.143654	1	1	121412	6	41	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRX1	79671	broad.mit.edu	37	11	119045222	119045222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045222G>A	ENST00000409109.1	+	6	1497	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S|NLRX1_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G304S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1			22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			CAAGTACGTGGGCCGCTATGG	0.572000																								0							SO:0001583	missense			ENST00000409109.1	1	1	hg19	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.507986	0.64410	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	N	0.04724	-0.175	0.45704	D	0.998615	D;D	0.89917	1.0;0.966	D;P	0.91635	0.999;0.625	T	0.73665	-0.3911	10	0.14656	T	0.56	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	304;304	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	304	ENSP00000386851:G304S;ENSP00000292199:G304S;ENSP00000386858:G304S;ENSP00000387334:G304S;ENSP00000433442:G304S	ENSP00000292199:G304S	G	+	1	0	NLRX1	118550432	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.171000	0.64996	2.884000	0.98904	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	0	0	0	19	944	0	182	0	1.509754e-01	1	32	0	182	2		0	0	0	0	0	2	1	9.999874e-01	19	918	0	182	2								-2.403375	0	1	121412	3	43	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.230000	0.140000	1.000000	0.230000	0.272377	0.230000	0	1.800000e-01	3.100000e-01
NLRX1	79671	broad.mit.edu	37	11	119045408	119045408	+	Missense_Mutation	SNP	G	G	A	rs141429802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045408G>A	ENST00000409109.1	+	6	1683	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T	NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T|NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1			22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			CCAGATAGCCGCTGCCTGCTT	0.612000																								0							SO:0001583	missense			ENST00000409109.1	1	1	hg19	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984415	0.18889	0.001364	1.16E-4	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70399	-0.38;-0.38;-0.48;-0.38;-0.48	6.07	3.22	0.36961	.	0.070594	0.64402	N	0.000017	T	0.48607	0.1509	N	0.16201	0.385	0.38241	D	0.941324	B;B	0.30793	0.295;0.108	B;B	0.23419	0.046;0.024	T	0.39522	-0.9610	10	0.20046	T	0.44	.	11.405	0.49892	0.1942:0.0:0.8058:0.0	.	366;366	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	T	366	ENSP00000386851:A366T;ENSP00000292199:A366T;ENSP00000386858:A366T;ENSP00000387334:A366T;ENSP00000433442:A366T	ENSP00000292199:A366T	A	+	1	0	NLRX1	118550618	0.997000	0.39634	0.007000	0.13788	0.320000	0.28249	3.053000	0.49901	0.459000	0.27016	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	0	0	0	12	405	0	94	1	3.163722e-01	2	35	0	94	2		0	0	0	0	0	2	1	9.989928e-01	12	394	0	91	2								-3.455639	1	1	121412	24	45	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.350000	0.180000	1.000000	0.330000	0.386603	0.350000	0	2.600000e-01	4.800000e-01
PDZD3	79849	broad.mit.edu	37	11	119057350	119057350	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119057350G>T	ENST00000531114.1	+	2	1028	c.479G>T	c.(478-480)aGg>aTg	p.R160M	PDZD3_ENST00000392817.2_Missense_Mutation_p.R160M|PDZD3_ENST00000322712.4_Missense_Mutation_p.R94M|PDZD3_ENST00000525131.1_Missense_Mutation_p.R81M|PDZD3_ENST00000355547.5_Missense_Mutation_p.R94M			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3			14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)			GAAGGAGACAGGATCCTGGCG	0.607000																								0							SO:0001583	missense			ENST00000531114.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	20.1	3.940897	0.73557	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.28	0.0424	0.14217	PDZ/DHR/GLGF (4);	0.319545	0.29861	N	0.011019	T	0.51958	0.1705	M	0.89163	3.01	0.35711	D	0.816381	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	D;D;D;D	0.71656	0.963;0.974;0.938;0.963	T	0.56739	-0.7929	10	0.62326	D	0.03	-3.0063	5.2049	0.15285	0.2015:0.0:0.5494:0.2491	.	81;160;94;94	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	M	81;160;94;94;94;160	ENSP00000434559:R81M;ENSP00000431164:R160M;ENSP00000347742:R94M;ENSP00000327107:R94M;ENSP00000376564:R160M	ENSP00000327107:R94M	R	+	2	0	PDZD3	118562560	0.075000	0.21258	0.853000	0.33588	0.974000	0.67602	1.594000	0.36697	-0.131000	0.11578	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	1	0	0	35	167	0	51	1	8.011455e-02	2	1	0	51	2		0	0	0	0	0	2	1	1	34	164	0	50	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MCAM	4162	broad.mit.edu	37	11	119181118	119181118	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119181118G>A	ENST00000264036.4	-	15	1866	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule			22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			ATCTCTTCTGGGAGCTTATCT	0.602000																								0							SO:0001583	missense			ENST00000264036.4	1	1	hg19	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217456	0.22373	.	.	ENSG00000076706	ENST00000264036	T	0.54675	0.56	5.28	5.28	0.74379	.	.	.	.	.	T	0.33411	0.0862	N	0.19112	0.55	0.80722	D	1	B	0.27450	0.179	B	0.25884	0.064	T	0.17258	-1.0375	9	0.02654	T	1	-8.3175	14.1784	0.65557	0.0:0.1499:0.8501:0.0	.	618	P43121	MUC18_HUMAN	S	618	ENSP00000264036:P618S	ENSP00000264036:P618S	P	-	1	0	MCAM	118686328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.896000	0.28377	2.461000	0.83175	0.563000	0.77884	CCA		TCGA-IB-7651-01A-11D-2154-08	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2	1	0	1	109	602	0	119	0	1	0	174	0	119	2		0	0	0	0	0	2	1	1	108	594	0	117	2								-3.076084	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFRP	83552	broad.mit.edu	37	11	119212585	119212585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119212585C>T	ENST00000530681.1	-	12	1641	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Silent_p.E499E|MFRP_ENST00000360167.4_Intron|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Silent_p.E499E	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein			18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)			CGCTGAGGACCTCTACCACCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000530681.1	1	1	hg19	CCDS8421.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	1	0	1	63	240	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	62	236	0	66	2								-3.781145	1	1	121394	20	44	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFRP	83552	broad.mit.edu	37	11	119216795	119216795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119216795G>A	ENST00000530681.1	-	3	376	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.L78F	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein			18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)			AGCAGCAGGAGGAGCAGGCTG	0.627000																								0							SO:0001583	missense			ENST00000530681.1	0	1	hg19	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261630	0.39995	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.72835	-0.69;-0.69;1.35	4.78	4.78	0.61160	.	0.086607	0.46442	D	0.000283	T	0.56093	0.1962	L	0.36672	1.1	0.38950	D	0.95833	B;B	0.28971	0.229;0.049	B;B	0.27608	0.081;0.026	T	0.53718	-0.8399	10	0.17369	T	0.5	-21.5893	9.4859	0.38928	0.098:0.0:0.902:0.0	.	78;78	B4DHN8;Q9BY79	.;MFRP_HUMAN	F	78	ENSP00000450509:L78F;ENSP00000391664:L78F;ENSP00000353291:L78F	ENSP00000353291:L78F	L	-	1	0	MFRP	118722005	0.004000	0.15560	1.000000	0.80357	0.981000	0.71138	-0.117000	0.10708	2.357000	0.79964	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	1	0	1	12	89	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.991189e-01	12	85	0	14	2								-19.646560	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.780000	1.000000	1.000000	0.984476	0.990000	1	9.900000e-01	1
USP2	9099	broad.mit.edu	37	11	119243427	119243427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119243427C>A	ENST00000260187.2	-	2	1058	c.764G>T	c.(763-765)aGa>aTa	p.R255I	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2			24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)			CATGCCGTCTCTTCCCGGGGA	0.642000																								0							SO:0001583	missense			ENST00000260187.2	1	1	hg19	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417086	0.42918	.	.	ENSG00000036672	ENST00000260187;ENST00000530918	T	0.21734	1.99	5.37	4.46	0.54185	.	0.849233	0.10346	N	0.685653	T	0.28566	0.0707	M	0.73430	2.235	0.80722	D	1	B	0.26258	0.145	B	0.31686	0.134	T	0.06285	-1.0835	10	0.52906	T	0.07	-1.6389	7.9324	0.29909	0.0:0.7531:0.1604:0.0865	.	255	O75604	UBP2_HUMAN	I	255;225	ENSP00000260187:R255I	ENSP00000260187:R255I	R	-	2	0	USP2	118748637	0.995000	0.38212	1.000000	0.80357	0.923000	0.55619	1.263000	0.33004	1.259000	0.44117	-0.137000	0.14449	AGA		TCGA-IB-7651-01A-11D-2154-08	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	1	0	0	26	269	0	51	0	8.541794e-03	0	2	0	51	2		0	0	0	0	0	2	1	9.999999e-01	26	264	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.700000	1.000000	1.000000	0.951305	0.990000	1	8.600000e-01	1
USP2	9099	broad.mit.edu	37	11	119244150	119244150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119244150G>A	ENST00000260187.2	-	2	335	c.41C>T	c.(40-42)tCg>tTg	p.S14L	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2			24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)			GTAGCGGGCCGATTCTGTGTA	0.592000																								0							SO:0001583	missense			ENST00000260187.2	1	1	hg19	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817379	0.70912	.	.	ENSG00000036672	ENST00000260187;ENST00000531070;ENST00000527843	T	0.24350	1.86	5.37	4.45	0.53987	.	0.165377	0.40064	N	0.001193	T	0.13457	0.0326	L	0.29908	0.895	0.80722	D	1	P	0.48998	0.918	B	0.26864	0.074	T	0.05321	-1.0892	10	0.72032	D	0.01	-1.859	10.842	0.46722	0.0865:0.0:0.9135:0.0	.	14	O75604	UBP2_HUMAN	L	14	ENSP00000260187:S14L	ENSP00000260187:S14L	S	-	2	0	USP2	118749360	1.000000	0.71417	0.883000	0.34634	0.990000	0.78478	5.241000	0.65384	2.507000	0.84556	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	1	0	1	37	214	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	1	37	210	0	39	2								-20.000000	1	1	121336	2	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
PVRL1	5818	broad.mit.edu	37	11	119535612	119535612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535612G>A	ENST00000264025.3	-	6	1929	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)			27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			GTGAAGTAGGGCCGCTTGGCG	0.662000																								0							SO:0001583	missense			ENST00000264025.3	1	1	hg19	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	11.38	1.621452	0.28889	.	.	ENSG00000110400	ENST00000264025	T	0.18657	2.2	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	L	0.43152	1.355	0.80722	D	1	P	0.51057	0.941	B	0.41036	0.346	T	0.09684	-1.0663	10	0.72032	D	0.01	.	15.7712	0.78170	0.0:0.0:1.0:0.0	.	467	Q15223	PVRL1_HUMAN	S	467	ENSP00000264025:P467S	ENSP00000264025:P467S	P	-	1	0	PVRL1	119040822	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	7.350000	0.79385	2.108000	0.64289	0.479000	0.44913	CCC		TCGA-IB-7651-01A-11D-2154-08	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1	1	0	0	10	177	0	32	0	1.155477e-01	1	9	0	32	2		0	0	0	0	0	2	1	9.969587e-01	10	175	0	31	2								-13.319950	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.650000	0.330000	1.000000	1.000000	0.676485	0.650000	0	4.700000e-01	9.000000e-01
PVRL1	5818	broad.mit.edu	37	11	119535964	119535964	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535964G>A	ENST00000264025.3	-	6	1577	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)			27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			GCACCGGCCCGGCGCGCCGCC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000264025.3	1	1	hg19	CCDS8426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1	1	0	1	55	224	0	31	0	7.933032e-01	0	14	0	31	2		0	0	0	0	0	2	1	1	51	209	0	28	2								-20.000000	1	0	120330	3	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PVRL1	5818	broad.mit.edu	37	11	119535972	119535972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535972G>A	ENST00000264025.3	-	6	1569	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)			27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CCGGCGCGCCGCCCATGTTCG	0.672000																								0							SO:0001583	missense			ENST00000264025.3	1	1	hg19	CCDS8426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	14.99	2.700809	0.48307	.	.	ENSG00000110400	ENST00000264025	T	0.76186	-1.0	4.32	3.32	0.38043	.	0.288701	0.29822	N	0.011103	T	0.57330	0.2046	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60177	-0.7314	10	0.66056	D	0.02	.	2.4483	0.04511	0.1109:0.1906:0.5019:0.1966	.	347	Q15223	PVRL1_HUMAN	W	347	ENSP00000264025:R347W	ENSP00000264025:R347W	R	-	1	2	PVRL1	119041182	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.455000	0.44988	2.108000	0.64289	0.479000	0.44913	CGG		TCGA-IB-7651-01A-11D-2154-08	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1	1	0	1	48	204	0	25	0	5.365509e-01	0	9	0	25	2		0	0	0	0	0	2	1	1	45	192	0	25	2								-20.000000	1	0	120334	3	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DKK3	27122	broad.mit.edu	37	11	11986231	11986231	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11986231T>G	ENST00000396505.2	-	8	1071	c.833A>C	c.(832-834)cAc>cCc	p.H278P	DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P|DKK3_ENST00000326932.4_Missense_Mutation_p.H278P	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3			8					CACCAGGCTGTGGCTGGGGAG	0.617000																								0							SO:0001583	missense			ENST00000396505.2	0	1	hg19	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102267	0.76983	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914	T;T;T;T	0.33865	2.1;2.1;2.12;1.39	5.53	5.53	0.82687	.	0.105186	0.64402	D	0.000003	T	0.44705	0.1306	L	0.55481	1.735	0.48288	D	0.999628	D;P;P	0.53151	0.958;0.93;0.93	P;B;B	0.51229	0.663;0.36;0.36	T	0.40979	-0.9534	10	0.54805	T	0.06	-15.4297	13.0648	0.59028	0.0:0.0:0.0:1.0	.	292;250;278	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	P	278;278;221;292;250;122	ENSP00000379762:H278P;ENSP00000314910:H278P;ENSP00000433112:H292P;ENSP00000398365:H250P	ENSP00000314730:H122P	H	-	2	0	DKK3	11942807	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.468000	0.60162	2.107000	0.64212	0.533000	0.62120	CAC		TCGA-IB-7651-01A-11D-2154-08	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	0	0	0	7	173	0	30	0	9.999808e-01	1	707	0	30	2		0	0	0	0	0	2	1	9.808687e-01	7	172	0	30	2								-10.215000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.490000	0.210000	1.000000	0.450000	0.523645	0.490000	0	3.300000e-01	7.100000e-01
TRIM29	23650	broad.mit.edu	37	11	120008617	120008617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120008617C>T	ENST00000341846.5	-	1	544	c.123G>A	c.(121-123)aaG>aaA	p.K41K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29			30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CGTTGGTGGTCTTGGCATCCT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000341846.5	1	1	hg19	CCDS8428.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	0	0	0	15	602	0	101	0	8.003956e-02	1	17	0	101	2		0	0	0	0	0	2	1	9.997519e-01	15	549	0	77	2								-12.193900	1	1	121398	9	42	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.290000	0.160000	1.000000	0.290000	0.329503	0.290000	0	2.200000e-01	3.900000e-01
OAF	220323	broad.mit.edu	37	11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)			6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)			ATCTACACCCGCCAGGAGGAT	0.647000																								0							SO:0001583	missense			ENST00000328965.4	1	1	hg19	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229765	0.79688	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.47177	0.85;0.85	5.3	4.39	0.52855	.	0.108226	0.64402	D	0.000008	T	0.68933	0.3055	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.74210	-0.3739	10	0.87932	D	0	-20.0037	13.8657	0.63588	0.0738:0.0:0.9262:0.0	.	172	Q86UD1	OAF_HUMAN	H	172;56	ENSP00000332613:R172H;ENSP00000431865:R56H	ENSP00000332613:R172H	R	+	2	0	OAF	119602883	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	9.402000	0.97298	1.228000	0.43614	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	1	0	1	43	192	0	42	1	1	59	312	0	42	2		0	0	0	0	0	2	1	1	42	187	0	41	2								-20.000000	1	1	121408	8	37	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF12	23365	broad.mit.edu	37	11	120343820	120343820	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120343820A>C	ENST00000397843.2	+	31	3183	c.3017A>C	c.(3016-3018)aAt>aCt	p.N1006T	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12			61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)			GAGTACCCAAATGTTGAAGAG	0.408000			T	MLL	AML										Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0							SO:0001583	missense			ENST00000397843.2	1	1	hg19	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	8.450	0.852865	0.17106	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.42900	0.96;0.96;0.96	5.68	5.68	0.88126	Pleckstrin homology-type (1);	0.000000	0.52532	D	0.000067	T	0.27559	0.0677	N	0.22421	0.69	0.32375	N	0.555307	B;B;B	0.20368	0.001;0.044;0.026	B;B;B	0.21546	0.004;0.035;0.016	T	0.31971	-0.9924	10	0.19590	T	0.45	-22.8944	9.5185	0.39120	0.7351:0.0:0.0:0.2649	.	903;987;1006	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	T	1006;987;903	ENSP00000380942:N1006T;ENSP00000349056:N987T;ENSP00000432984:N903T	ENSP00000349056:N987T	N	+	2	0	ARHGEF12	119849030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.882000	0.56160	2.179000	0.69175	0.477000	0.44152	AAT		TCGA-IB-7651-01A-11D-2154-08	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	1	0	1	69	786	0	185	1	9.999993e-01	37	187	0	185	2		0	0	0	0	0	2	1	1	68	770	0	182	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.950000	0.750000	1.000000	1.000000	0.935102	0.950000	1	8.400000e-01	1
ARHGEF12	23365	broad.mit.edu	37	11	120347416	120347416	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120347416G>T	ENST00000397843.2	+	34	3490	c.3324G>T	c.(3322-3324)caG>caT	p.Q1108H	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12			61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)			ATGGCGCTCAGATTTATGAAC	0.383000			T	MLL	AML										Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0							SO:0001583	missense			ENST00000397843.2	1	1	hg19	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279255	0.40294	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.46063	0.88;0.88;0.88	5.1	-1.08	0.09936	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.38217	U	0.001761	T	0.29817	0.0745	L	0.55017	1.72	0.58432	D	0.999998	B;B;B	0.30973	0.302;0.094;0.057	B;B;B	0.28385	0.089;0.044;0.02	T	0.03641	-1.1017	10	0.52906	T	0.07	-12.5972	4.5858	0.12282	0.2541:0.1396:0.4849:0.1215	.	1005;1089;1108	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	1108;1089;1005	ENSP00000380942:Q1108H;ENSP00000349056:Q1089H;ENSP00000432984:Q1005H	ENSP00000349056:Q1089H	Q	+	3	2	ARHGEF12	119852626	0.900000	0.30661	0.997000	0.53966	0.971000	0.66376	-0.026000	0.12392	-0.153000	0.11137	-0.471000	0.05019	CAG		TCGA-IB-7651-01A-11D-2154-08	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	1	0	1	63	286	0	79	1	1	57	193	0	79	2		0	0	0	0	0	2	1	1	62	282	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF12	23365	broad.mit.edu	37	11	120348237	120348237	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120348237T>C	ENST00000397843.2	+	36	3698		c.e36+2		ARHGEF12_ENST00000532993.1_Splice_Site|ARHGEF12_ENST00000356641.3_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12			61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)			AGAGTCCAGGTACACTCTTCT	0.423000			T	MLL	AML										Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0							SO:0001630	splice_region_variant			ENST00000397843.2	1	1	hg19	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175037	0.38413	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2739	0.60177	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF12	119853447	1.000000	0.71417	0.982000	0.44146	0.403000	0.30841	4.499000	0.60380	1.936000	0.56123	0.477000	0.44152	.		TCGA-IB-7651-01A-11D-2154-08	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	1	0	0	23	184	0	52	1	6.682849e-01	12	8	0	52	2		0	0	0	0	0	2	1	9.999991e-01	21	174	0	52	2								-10.773660	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.860000	1.000000	1.000000	0.991731	0.990000	1	9.900000e-01	1
ARHGEF12	23365	broad.mit.edu	37	11	120355208	120355208	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120355208A>C	ENST00000397843.2	+	40	4782	c.4616A>C	c.(4615-4617)aAg>aCg	p.K1539T	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12			61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)			CTCACAGACAAGCACTCAGGT	0.388000			T	MLL	AML										Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0							SO:0001583	missense			ENST00000397843.2	1	1	hg19	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147910	0.57151	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68765	-0.25;-0.35;-0.24	5.69	4.57	0.56435	.	0.142736	0.32328	N	0.006246	T	0.46795	0.1411	N	0.19112	0.55	0.27222	N	0.959639	P	0.35433	0.501	B	0.29785	0.107	T	0.35847	-0.9772	10	0.33940	T	0.23	-11.4479	10.0608	0.42273	0.9244:0.0:0.0756:0.0	.	1539	Q9NZN5	ARHGC_HUMAN	T	1539;1520;1436	ENSP00000380942:K1539T;ENSP00000349056:K1520T;ENSP00000432984:K1436T	ENSP00000349056:K1520T	K	+	2	0	ARHGEF12	119860418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.355000	0.59424	0.993000	0.38866	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	1	0	0	37	317	0	65	1	9.999999e-01	16	208	0	65	2		0	0	0	0	0	2	1	1	36	307	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.890000	1.000000	1.000000	0.993287	0.990000	1	9.900000e-01	1
GRIK4	2900	broad.mit.edu	37	11	120769288	120769288	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120769288C>A	ENST00000527524.2	+	12	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_ENST00000438375.2_Silent_p.L404L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4			69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)			ACAGCCACCTCTATGCCTCCA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000527524.2	1	1	hg19	CCDS8433.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	1	0	1	41	174	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	1	41	171	0	38	2								-3.438187	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBCEL	219899	broad.mit.edu	37	11	120930756	120930756	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120930756T>C	ENST00000529397.1	+	7	1018	c.918T>C	c.(916-918)cgT>cgC	p.R306R	TBCEL_ENST00000422003.2_Silent_p.R306R	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like		TECTA/TBCEL(2)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)			TTTTTATTCGTTACTATGTGG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000529397.1	0	1	hg19	CCDS31692.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	0	0	0	9	238	0	36	0	4.671995e-01	0	40	0	36	2		0	0	0	0	0	2	1	9.935627e-01	8	231	0	36	2								-10.847410	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.450000	0.220000	1.000000	0.420000	0.485580	0.450000	0	3.200000e-01	6.300000e-01
TECTA	7007	broad.mit.edu	37	11	120989026	120989026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989026C>T	ENST00000392793.1	+	7	1073	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TECTA_ENST00000264037.2_Missense_Mutation_p.R268W			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			ACAATTCCTTCGGCGAGGGGA	0.493000																								0							SO:0001583	missense			ENST00000392793.1	1	1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234424	0.79800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.66099	-0.19;-0.19	5.66	5.66	0.87406	von Willebrand factor, type C (1);	0.065114	0.64402	D	0.000015	T	0.75459	0.3852	L	0.60455	1.87	0.35964	D	0.834817	D	0.89917	1.0	P	0.60609	0.877	T	0.80819	-0.1212	10	0.72032	D	0.01	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	268	O75443	TECTA_HUMAN	W	268	ENSP00000376543:R268W;ENSP00000264037:R268W	ENSP00000264037:R268W	R	+	1	2	TECTA	120494236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.071000	0.50041	2.653000	0.90120	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1	41	183	0	40	0	0	0	1	0	40	2		0	0	0	0	0	2	1	1	40	180	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTA	7007	broad.mit.edu	37	11	120989208	120989208	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989208A>G	ENST00000392793.1	+	7	1255	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TECTA_ENST00000264037.2_Silent_p.P328P			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			TTGGGGAGCCACACTACCACA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000392793.1	1	1	hg19	CCDS8434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1	78	439	0	81	0	2.341782e-02	0	2	0	81	2		0	0	0	0	0	2	1	1	76	431	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTA	7007	broad.mit.edu	37	11	120998829	120998829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120998829C>T	ENST00000392793.1	+	9	2414	c.2143C>T	c.(2143-2145)Ctc>Ttc	p.L715F	TECTA_ENST00000264037.2_Missense_Mutation_p.L715F			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			CGTGTGCCTGCTCAGCCAGAA	0.652000																								0							SO:0001583	missense			ENST00000392793.1	1	1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031115	0.35797	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60920	0.15;0.15	5.67	2.47	0.30058	von Willebrand factor, type D domain (3);	0.410318	0.26016	N	0.026850	T	0.55657	0.1934	L	0.44542	1.39	0.28346	N	0.921119	P	0.36535	0.557	P	0.44732	0.459	T	0.56019	-0.8048	10	0.59425	D	0.04	.	12.1335	0.53957	0.1003:0.4443:0.4554:0.0	.	715	O75443	TECTA_HUMAN	F	715	ENSP00000376543:L715F;ENSP00000264037:L715F	ENSP00000264037:L715F	L	+	1	0	TECTA	120504039	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	1.883000	0.39658	0.717000	0.32145	-0.175000	0.13238	CTC		TCGA-IB-7651-01A-11D-2154-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1	78	361	0	86	0	0	0	1	0	86	2		0	0	0	0	0	2	1	1	76	359	0	86	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTA	7007	broad.mit.edu	37	11	121000350	121000350	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121000350A>G	ENST00000392793.1	+	10	2642	c.2371A>G	c.(2371-2373)Aat>Gat	p.N791D	TECTA_ENST00000264037.2_Missense_Mutation_p.N791D			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			TTTTCAGTTGAATGGTCAGGA	0.448000																								0							SO:0001583	missense			ENST00000392793.1	1	1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230020	0.79688	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.64803	-0.12;-0.12	4.99	4.99	0.66335	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	L	0.60455	1.87	0.46376	D	0.999019	D	0.76494	0.999	D	0.83275	0.996	T	0.69687	-0.5078	10	0.17832	T	0.49	.	14.6911	0.69087	1.0:0.0:0.0:0.0	.	791	O75443	TECTA_HUMAN	D	791	ENSP00000376543:N791D;ENSP00000264037:N791D	ENSP00000264037:N791D	N	+	1	0	TECTA	120505560	1.000000	0.71417	0.772000	0.31596	0.810000	0.45777	8.522000	0.90573	1.886000	0.54624	0.460000	0.39030	AAT		TCGA-IB-7651-01A-11D-2154-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	0	0	1	81	341	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	81	335	0	88	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTA	7007	broad.mit.edu	37	11	121028656	121028656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121028656C>T	ENST00000392793.1	+	14	4683	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V	TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			GAGGAGTGTGCGCTGCGCAAC	0.667000																								0							SO:0001583	missense			ENST00000392793.1	1	1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949295	0.53186	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04862	3.54;3.54	5.55	4.58	0.56647	VWC out (1);	0.132425	0.50627	D	0.000116	T	0.03871	0.0109	N	0.11255	0.115	0.35126	D	0.767478	B	0.29862	0.259	B	0.19946	0.027	T	0.49214	-0.8963	10	0.23302	T	0.38	.	15.7864	0.78306	0.0:0.7558:0.2441:0.0	.	1471	O75443	TECTA_HUMAN	V	1471	ENSP00000376543:A1471V;ENSP00000264037:A1471V	ENSP00000264037:A1471V	A	+	2	0	TECTA	120533866	0.813000	0.29090	0.999000	0.59377	0.959000	0.62525	1.558000	0.36309	2.600000	0.87896	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1	66	339	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	65	334	0	78	2								-3.156705	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTA	7007	broad.mit.edu	37	11	121031011	121031011	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			ACAAAGTGTGCGGTCTCTGTG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000392793.1	1	1	hg19	CCDS8434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1	150	629	0	132	0	0	0	1	0	132	2		0	0	0	0	0	2	1	1	147	618	0	131	2								-3.181229	1	1	121412	2	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECTA	7007	broad.mit.edu	37	11	121060582	121060582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121060582C>A	ENST00000392793.1	+	23	6631	c.6360C>A	c.(6358-6360)agC>agA	p.S2120R	TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			ACGGCAAGAGCTGCAGAGGTA	0.572000																								0							SO:0001583	missense			ENST00000392793.1	1	1	hg19	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902110	0.72754	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.95756	-3.8;-3.8	5.71	3.52	0.40303	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	L	0.60957	1.885	0.44337	D	0.997229	D	0.71674	0.998	D	0.78314	0.991	D	0.96201	0.9145	10	0.87932	D	0	.	10.5441	0.45050	0.0:0.7674:0.0:0.2326	.	2120	O75443	TECTA_HUMAN	R	2120	ENSP00000376543:S2120R;ENSP00000264037:S2120R	ENSP00000264037:S2120R	S	+	3	2	TECTA	120565792	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.062000	0.49971	1.423000	0.47198	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	1	0	1	52	236	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	1	52	233	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SORL1	6653	broad.mit.edu	37	11	121383800	121383800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121383800G>T	ENST00000260197.7	+	7	1157	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing			91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)			TTTGTCACAAGACATCCTATT	0.522000																								0							SO:0001583	missense			ENST00000260197.7	1	1	hg19	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456427	0.63401	.	.	ENSG00000137642	ENST00000260197	T	0.27557	1.66	5.19	4.27	0.50696	VPS10 (1);	0.248756	0.37715	N	0.001971	T	0.25606	0.0623	L	0.29908	0.895	0.80722	D	1	P	0.36183	0.542	B	0.41412	0.356	T	0.05937	-1.0855	10	0.59425	D	0.04	.	8.0411	0.30521	0.2403:0.0:0.7597:0.0	.	343	Q92673	SORL_HUMAN	I	343	ENSP00000260197:R343I	ENSP00000260197:R343I	R	+	2	0	SORL1	120889010	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.191000	0.50981	1.174000	0.42811	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	1	0	1	76	336	0	87	1	9.983748e-01	9	35	0	87	2		0	0	0	0	0	2	1	1	76	327	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SORL1	6653	broad.mit.edu	37	11	121440888	121440888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121440888G>A	ENST00000260197.7	+	23	3375	c.3246G>A	c.(3244-3246)caG>caA	p.Q1082Q	SORL1_ENST00000525532.1_Silent_p.Q26Q	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing			91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)			TTCGCAACCAGTATCGCTGCA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000260197.7	1	1	hg19	CCDS8436.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	1	0	1	75	361	0	102	1	9.999046e-01	10	57	0	102	2		0	0	0	0	0	2	1	1	74	350	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SORL1	6653	broad.mit.edu	37	11	121459973	121459973	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121459973G>T	ENST00000260197.7	+	29	4081	c.3952G>T	c.(3952-3954)Gat>Tat	p.D1318Y	SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing			91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)			TGTAGCCCAAGATCCTGAGTT	0.517000																								0							SO:0001583	missense			ENST00000260197.7	1	1	hg19	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038523	0.35989	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.91631	-2.88;-2.63;-2.27;-2.29	5.62	5.62	0.85841	.	0.395539	0.28448	N	0.015315	D	0.91147	0.7212	N	0.20574	0.59	0.80722	D	1	D	0.62365	0.991	P	0.53593	0.73	D	0.92346	0.5885	10	0.66056	D	0.02	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	1318	Q92673	SORL_HUMAN	Y	1318;262;164;228	ENSP00000260197:D1318Y;ENSP00000434634:D262Y;ENSP00000432131:D164Y;ENSP00000436447:D228Y	ENSP00000260197:D1318Y	D	+	1	0	SORL1	120965183	1.000000	0.71417	0.984000	0.44739	0.637000	0.38172	4.922000	0.63404	2.634000	0.89283	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	1	0	0	92	1070	0	279	1	9.980991e-01	6	101	0	279	2		0	0	0	0	0	2	1	1	92	1047	0	275	2								-18.858750	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.930000	0.760000	1.000000	1.000000	0.927570	0.930000	1	8.400000e-01	1
MICAL2	9645	broad.mit.edu	37	11	12246330	12246330	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12246330C>A	ENST00000256194.4	+	13	1939	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M	MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M|MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M|MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2			47					TGGGTTGGCCCTGTGTGCCAT	0.647000																								0							SO:0001583	missense			ENST00000256194.4	1	1	hg19	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749488	0.69533	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	5.01	4.02	0.46733	Calponin homology domain (5);	0.000000	0.64402	D	0.000005	D	0.98485	0.9495	M	0.89353	3.025	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.98206	1.0470	10	0.87932	D	0	.	7.4697	0.27342	0.0:0.7662:0.0:0.2338	.	551;551;551;551;551	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	M	551;84;551;551;551;551	ENSP00000441689:L551M;ENSP00000256194:L551M;ENSP00000433965:L551M;ENSP00000344894:L551M;ENSP00000368932:L551M	ENSP00000256194:L551M	L	+	1	2	MICAL2	12202906	0.581000	0.26741	1.000000	0.80357	0.975000	0.68041	1.248000	0.32827	2.606000	0.88127	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	1	0	0	14	306	0	57	1	9.949951e-01	8	185	0	57	2		0	0	0	0	0	2	1	9.997550e-01	14	303	0	56	2								-2.994713	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.530000	0.300000	1.000000	0.510000	0.559452	0.530000	0	4.000000e-01	7.000000e-01
MICAL2	9645	broad.mit.edu	37	11	12264276	12264276	+	Missense_Mutation	SNP	C	C	T	rs146142372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12264276C>T	ENST00000256194.4	+	20	2903	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V|MICAL2_ENST00000379612.3_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2			47					AAGGAGAAGGCGGCTCACCTT	0.517000																								0							SO:0001583	missense			ENST00000256194.4	1	1	hg19	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165018	0.94727	0.0	1.16E-4	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.68903	-0.33;-0.36	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.75664	0.3880	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.962	T	0.75147	-0.3420	10	0.52906	T	0.07	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	872;872	G3XAC8;O94851	.;MICA2_HUMAN	V	872	ENSP00000256194:A872V;ENSP00000344894:A872V	ENSP00000256194:A872V	A	+	2	0	MICAL2	12220852	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.311000	0.65786	2.884000	0.98904	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	1	0	0	40	422	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	40	417	0	69	2								-3.017764	1	1	121412	4	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.740000	1.000000	1.000000	0.956222	0.990000	1	8.700000e-01	1
UBASH3B	84959	broad.mit.edu	37	11	122669710	122669710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122669710G>A	ENST00000284273.5	+	10	1793	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B			26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)			CCGTCCCTTCGCTGCGTTCAG	0.423000																								0							SO:0001583	missense			ENST00000284273.5	1	1	hg19	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627954	0.96671	.	.	ENSG00000154127	ENST00000284273	T	0.77098	-1.07	6.17	6.17	0.99709	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93419	0.6775	10	0.87932	D	0	-2.7987	20.4745	0.99168	0.0:0.0:1.0:0.0	.	473	Q8TF42	UBS3B_HUMAN	H	473	ENSP00000284273:R473H	ENSP00000284273:R473H	R	+	2	0	UBASH3B	122174920	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.200000	0.95010	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	1	0	0	12	284	0	40	0	7.710731e-01	1	67	0	40	2		0	0	0	0	0	2	1	9.991133e-01	12	281	0	40	2								-3.862249	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.490000	0.260000	1.000000	0.470000	0.525763	0.490000	0	3.600000e-01	6.700000e-01
UBASH3B	84959	broad.mit.edu	37	11	122671895	122671895	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122671895G>T	ENST00000284273.5	+	11	1825		c.e11-1			NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B			26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)			TTACCCCTAAGGTTTACAACA	0.418000																								0							SO:0001630	splice_region_variant			ENST00000284273.5	1	1	hg19	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120793	0.77436	.	.	ENSG00000154127	ENST00000284273	.	.	.	5.47	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7391	0.62836	0.0747:0.0:0.9253:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBASH3B	122177105	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	9.447000	0.97595	1.289000	0.44618	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	0	0	0	16	523	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	9.999259e-01	17	514	0	103	2								-2.962210	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.360000	0.210000	1.000000	0.350000	0.391984	0.360000	0	2.700000e-01	4.700000e-01
UBASH3B	84959	broad.mit.edu	37	11	122677157	122677157	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122677157C>A	ENST00000284273.5	+	12	2010	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B			26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)			TTTCAGAATCCTATGATACTT	0.299000																								0							SO:0001819	synonymous_variant			ENST00000284273.5	1	1	hg19	CCDS31694.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	1	0	0	12	150	0	77	1	8.639200e-01	5	42	0	77	2		0	0	0	0	0	2	1	9.991043e-01	11	147	0	77	2								-2.744686	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.890000	0.490000	1.000000	1.000000	0.855520	0.890000	1	6.700000e-01	1
C11orf63	79864	broad.mit.edu	37	11	122774741	122774741	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122774741G>A	ENST00000531316.1	+	2	545	c.453G>A	c.(451-453)acG>acA	p.T151T	C11orf63_ENST00000307257.6_Silent_p.T151T|C11orf63_ENST00000227349.2_Silent_p.T151T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63			47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CGGAGTCCACGGACAGCTCTT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000531316.1	1	1	hg19	CCDS8438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	1	0	1	151	624	0	149	0	8.464510e-01	0	16	0	149	2		0	0	0	0	0	2	1	1	150	617	0	147	2								-2.947470	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BSX	390259	broad.mit.edu	37	11	122848527	122848527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848527C>A	ENST00000343035.2	-	3	580	c.532G>T	c.(532-534)Gca>Tca	p.A178S		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox			10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CCGTCTGGTGCTTTGGGTTCG	0.602000																								0							SO:0001583	missense			ENST00000343035.2	1	1	hg19	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385453	0.25031	.	.	ENSG00000188909	ENST00000343035	D	0.92805	-3.11	5.4	5.4	0.78164	Homeodomain-like (1);	0.297348	0.35739	N	0.003004	T	0.81588	0.4854	N	0.14661	0.345	0.26143	N	0.980247	B	0.09022	0.002	B	0.09377	0.004	T	0.63585	-0.6604	10	0.07482	T	0.82	.	9.9018	0.41353	0.0:0.8441:0.0:0.1559	.	178	Q3C1V8	BSH_HUMAN	S	178	ENSP00000344285:A178S	ENSP00000344285:A178S	A	-	1	0	BSX	122353737	0.693000	0.27728	0.989000	0.46669	0.367000	0.29736	1.139000	0.31504	2.516000	0.84829	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	1	0	1	62	212	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	62	211	0	39	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BSX	390259	broad.mit.edu	37	11	122848534	122848534	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848534T>C	ENST00000343035.2	-	3	573	c.525A>G	c.(523-525)gaA>gaG	p.E175E		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox			10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			GTGCTTTGGGTTCGTCTTGGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000343035.2	1	1	hg19	CCDS41728.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	1	0	0	65	223	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	65	220	0	37	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA8	3312	broad.mit.edu	37	11	122930388	122930388	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122930388G>T	ENST00000532636.1	-	5	1032	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	HSPA8_ENST00000534624.1_Missense_Mutation_p.L305M|HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M|SNORD14E_ENST00000364009.1_RNA|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8			36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			TCAGCATTCAGTTCTTCAAAT	0.498000													Colon(21;486 594 5900 6733 14272)											0							SO:0001583	missense			ENST00000532636.1	1	1	hg19	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926013	0.52759	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01838	4.61;4.61;4.61;4.61;4.61;4.61;4.61;4.61	4.65	0.489	0.16854	.	0.166857	0.38778	N	0.001580	T	0.08626	0.0214	M	0.69523	2.12	0.80722	D	1	P;D;D;P	0.69078	0.877;0.997;0.997;0.877	P;D;D;P	0.75020	0.553;0.985;0.974;0.553	T	0.01349	-1.1378	10	0.56958	D	0.05	-13.7035	9.267	0.37647	0.3321:0.0:0.6679:0.0	.	305;305;305;305	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	M	305;159;305;305;305;69;286;245	ENSP00000437125:L305M;ENSP00000437189:L159M;ENSP00000432083:L305M;ENSP00000404372:L305M;ENSP00000227378:L305M;ENSP00000433316:L69M;ENSP00000433584:L286M;ENSP00000432884:L245M	ENSP00000227378:L305M	L	-	1	2	HSPA8	122435598	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.041000	0.41213	-0.027000	0.13873	-0.369000	0.07265	CTG		TCGA-IB-7651-01A-11D-2154-08	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1	1	0	1	45	225	0	58	1	1	1350	3581	0	58	2		0	0	0	0	0	2	1	1	44	220	0	57	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MICALCL	84953	broad.mit.edu	37	11	12341278	12341278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12341278G>A	ENST00000256186.2	+	4	1753	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like			30					ACAGGTAACAGAGGCTTCCTC	0.458000																								0							SO:0001583	missense			ENST00000256186.2	1	1	hg19	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659779	0.29515	.	.	ENSG00000133808	ENST00000256186	T	0.09911	2.93	5.55	4.58	0.56647	.	0.348813	0.20333	N	0.094386	T	0.07863	0.0197	L	0.38175	1.15	0.21740	N	0.999568	P	0.43094	0.799	B	0.33339	0.162	T	0.34675	-0.9819	10	0.22109	T	0.4	.	13.2894	0.60262	0.0:0.1588:0.8412:0.0	.	488	Q6ZW33	MICLK_HUMAN	K	488	ENSP00000256186:E488K	ENSP00000256186:E488K	E	+	1	0	MICALCL	12297854	0.616000	0.27035	0.339000	0.25562	0.465000	0.32709	3.063000	0.49978	2.753000	0.94483	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	1	0	1	101	443	0	112	0	9.217885e-02	1	2	0	112	2		0	0	0	0	0	2	1	1	100	436	0	108	2								-3.070107	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRAMD1B	57476	broad.mit.edu	37	11	123481019	123481019	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123481019G>A	ENST00000529750.1	+	13	1790	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B			30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			ACGCTCACCCGTGTGGCTCGG	0.542000																								0							SO:0001583	missense			ENST00000529750.1	1	1	hg19	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981378	0.93044	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.87578	0.925;0.998;0.869;0.943	T	0.38757	-0.9646	10	0.38643	T	0.18	.	18.5888	0.91200	0.0:0.0:1.0:0.0	.	448;179;488;495	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	H	495;495;488;488;448;179	ENSP00000402457:R495H;ENSP00000325628:R488H;ENSP00000436500:R488H;ENSP00000432987:R448H;ENSP00000388458:R179H	ENSP00000325628:R488H	R	+	2	0	GRAMD1B	122986229	1.000000	0.71417	0.973000	0.42090	0.690000	0.40134	9.388000	0.97237	2.554000	0.86153	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	1	0	1	74	370	0	101	1	7.722927e-01	3	13	0	101	2		0	0	0	0	0	2	1	1	72	361	0	100	2								-20.000000	1	1	120966	2	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF202	7753	broad.mit.edu	37	11	123598907	123598907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123598907G>A	ENST00000529691.1	-	5	985	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF202_ENST00000336139.4_Missense_Mutation_p.P256S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S			O95125	ZN202_HUMAN	zinc finger protein 202			30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			TTCTGTGTTGGGTCCAGATCA	0.428000																								0							SO:0001583	missense			ENST00000529691.1	1	1	hg19	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828829	0.71258	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.02280	4.36;4.36;4.36	5.11	5.11	0.69529	Krueppel-associated box (4);	0.000000	0.47852	D	0.000214	T	0.08133	0.0203	L	0.52364	1.645	0.37552	D	0.91871	D	0.89917	1.0	D	0.72982	0.979	T	0.18366	-1.0339	10	0.44086	T	0.13	-13.3373	11.8553	0.52433	0.0:0.1767:0.8232:0.0	.	256	O95125	ZN202_HUMAN	S	256	ENSP00000337724:P256S;ENSP00000432504:P256S;ENSP00000433881:P256S	ENSP00000337724:P256S	P	-	1	0	ZNF202	123104117	0.791000	0.28800	0.997000	0.53966	0.977000	0.68977	1.793000	0.38764	2.382000	0.81193	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	1	0	1	66	299	0	72	1	9.588614e-01	6	20	0	72	2		0	0	0	0	0	2	1	1	66	294	0	70	2								-2.933966	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF202	7753	broad.mit.edu	37	11	123601239	123601239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123601239G>T	ENST00000529691.1	-	2	577	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	ZNF202_ENST00000336139.4_Missense_Mutation_p.L120M|ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M			O95125	ZN202_HUMAN	zinc finger protein 202			30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CCCTCCACCAGCGTCACTGCC	0.582000																								0							SO:0001583	missense			ENST00000529691.1	1	1	hg19	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279525	0.59758	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.57	3.66	0.41972	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.37304	N	0.002147	T	0.19725	0.0474	L	0.48174	1.505	0.33660	D	0.609537	D	0.76494	0.999	D	0.91635	0.999	T	0.14587	-1.0467	10	0.59425	D	0.04	-12.847	10.1465	0.42767	0.0971:0.0:0.9029:0.0	.	120	O95125	ZN202_HUMAN	M	120	ENSP00000337724:L120M;ENSP00000432504:L120M;ENSP00000433881:L120M;ENSP00000431223:L120M	ENSP00000337724:L120M	L	-	1	2	ZNF202	123106449	0.945000	0.32115	0.997000	0.53966	0.913000	0.54294	1.429000	0.34903	1.146000	0.42352	0.455000	0.32223	CTG		TCGA-IB-7651-01A-11D-2154-08	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	1	0	1	115	571	0	174	1	8.698841e-01	8	12	0	174	2		0	0	0	0	0	2	1	1	112	550	0	171	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6X1	390260	broad.mit.edu	37	11	123624503	123624503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624503G>A	ENST00000327930.2	-	1	750	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1			23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			ACTGTCAGGTGCGAGGCACAG	0.458000																								0							SO:0001583	missense			ENST00000327930.2	1	1	hg19	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858060	0.71834	.	.	ENSG00000221931	ENST00000327930	T	0.00314	8.14	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.97158	3.95	0.46954	D	0.999262	D	0.89917	1.0	D	0.91635	0.999	T	0.41342	-0.9514	9	0.87932	D	0	-14.9416	14.1152	0.65149	0.0:0.0:1.0:0.0	.	242	Q8NH79	OR6X1_HUMAN	Y	242	ENSP00000333724:H242Y	ENSP00000333724:H242Y	H	-	1	0	OR6X1	123129713	1.000000	0.71417	0.994000	0.49952	0.753000	0.42808	8.908000	0.92640	2.191000	0.70037	0.650000	0.86243	CAC		TCGA-IB-7651-01A-11D-2154-08	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	1	0	1	70	353	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	70	347	0	82	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6X1	390260	broad.mit.edu	37	11	123624731	123624731	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624731A>C	ENST00000327930.2	-	1	522	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1			23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			TTGCCACAGAATGGCAACTGG	0.512000																								0							SO:0001583	missense			ENST00000327930.2	1	1	hg19	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772160	0.69992	.	.	ENSG00000221931	ENST00000327930	T	0.00145	8.67	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.90369	3.11	0.40301	D	0.978608	D	0.53312	0.959	P	0.55508	0.777	T	0.70554	-0.4840	9	0.87932	D	0	-16.1591	12.1541	0.54066	1.0:0.0:0.0:0.0	.	166	Q8NH79	OR6X1_HUMAN	V	166	ENSP00000333724:F166V	ENSP00000333724:F166V	F	-	1	0	OR6X1	123129941	1.000000	0.71417	0.872000	0.34217	0.713000	0.41058	4.554000	0.60760	1.982000	0.57802	0.528000	0.53228	TTC		TCGA-IB-7651-01A-11D-2154-08	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	1	0	1	84	390	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	82	386	0	98	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6X1	390260	broad.mit.edu	37	11	123624777	123624777	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624777G>A	ENST00000327930.2	-	1	476	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1			23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			CAATGGTGAAGCCCACCACCC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000327930.2	1	1	hg19	CCDS31695.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	1	0	1	65	347	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	63	344	0	81	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6M1	390261	broad.mit.edu	37	11	123676536	123676536	+	Missense_Mutation	SNP	G	G	T	rs141670886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676536G>T	ENST00000309154.2	-	1	559	c.522C>A	c.(520-522)ttC>ttA	p.F174L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1			29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			TGTCACAGAAGAAATGATTAA	0.463000																								0							SO:0001583	missense			ENST00000309154.2	1	1	hg19	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.334129	0.41297	.	.	ENSG00000196099	ENST00000309154	T	0.00346	8.01	3.58	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	U	0.004472	T	0.00637	0.0021	M	0.83118	2.625	0.20563	N	0.999886	D	0.89917	1.0	D	0.80764	0.994	T	0.15780	-1.0425	10	0.87932	D	0	.	10.1732	0.42922	0.4371:0.0:0.5629:0.0	.	174	Q8NGM8	OR6M1_HUMAN	L	174	ENSP00000311038:F174L	ENSP00000311038:F174L	F	-	3	2	OR6M1	123181746	0.000000	0.05858	0.285000	0.24819	0.682000	0.39822	-0.574000	0.05868	-0.616000	0.05671	-1.149000	0.01842	TTC		TCGA-IB-7651-01A-11D-2154-08	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	1	0	1	64	255	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	63	249	0	74	2								-20.000000	1	0	121402	11	41	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6M1	390261	broad.mit.edu	37	11	123676620	123676620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676620G>T	ENST00000309154.2	-	1	475	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1			29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			CTCCCACCCAGCATCCCAGAA	0.507000																								0							SO:0001587	stop_gained			ENST00000309154.2	0	1	hg19	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810325	0.50421	.	.	ENSG00000196099	ENST00000309154	.	.	.	3.68	0.438	0.16560	.	0.000000	0.36167	U	0.002747	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	5.4638	0.16632	0.5274:0.0:0.4726:0.0	.	.	.	.	X	146	.	ENSP00000311038:C146X	C	-	3	2	OR6M1	123181830	0.000000	0.05858	0.740000	0.30986	0.589000	0.36550	-0.806000	0.04525	0.242000	0.21303	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	0	0	0	6	266	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.633976e-01	6	261	0	60	2								-6.801253	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.280000	0.110000	1.000000	0.260000	0.323282	0.280000	0	1.800000e-01	4.200000e-01
MICALCL	84953	broad.mit.edu	37	11	12371470	12371470	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12371470G>A	ENST00000256186.2	+	7	2106	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	p.S605S(1)		30					GATATGAGTCGGAGCTCCTAA	0.473000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000256186.2	0	1	hg19	CCDS41620.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	0	0	0	7	318	0	42	0	2.098367e-02	0	9	0	42	2		0	0	0	0	0	2	1	9.798050e-01	7	313	0	42	2								-3.135003	1	1	120844	51	48	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.270000	0.110000	1.000000	0.250000	0.311981	0.270000	0	1.800000e-01	4.000000e-01
TMEM225	338661	broad.mit.edu	37	11	123753963	123753963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123753963G>A	ENST00000375026.2	-	4	776	c.560C>T	c.(559-561)tCt>tTt	p.S187F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225			28					ATCTTCGATAGAATTCTCAGA	0.433000																								0							SO:0001583	missense			ENST00000375026.2	1	1	hg19	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963711	0.18583	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.37752	1.22;1.18	3.76	1.77	0.24775	.	0.346611	0.21360	N	0.075801	T	0.30355	0.0762	L	0.27053	0.805	0.09310	N	1	D	0.54601	0.967	P	0.49561	0.615	T	0.10660	-1.0620	10	0.87932	D	0	-9.4676	8.4555	0.32897	0.0:0.0:0.5761:0.4239	.	187	Q6GV28	TM225_HUMAN	F	187;137	ENSP00000364166:S187F;ENSP00000431282:S137F	ENSP00000364166:S187F	S	-	2	0	TMEM225	123259173	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.700000	0.25601	0.504000	0.28082	-0.268000	0.10319	TCT		TCGA-IB-7651-01A-11D-2154-08	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	1	0	1	68	311	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	65	309	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM225	338661	broad.mit.edu	37	11	123754818	123754818	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754818T>G	ENST00000375026.2	-	3	643	c.427A>C	c.(427-429)Act>Cct	p.T143P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225			28					AAGTAAGCAGTATACATGATC	0.453000																								0							SO:0001583	missense			ENST00000375026.2	1	1	hg19	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375561	0.42105	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69175	-0.38;-0.38	4.74	-0.839	0.10759	.	0.487163	0.17515	N	0.171460	T	0.62720	0.2451	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.67382	0.951	T	0.52215	-0.8605	10	0.62326	D	0.03	-1.9637	2.6171	0.04907	0.3711:0.2056:0.0:0.4233	.	143	Q6GV28	TM225_HUMAN	P	143;93	ENSP00000364166:T143P;ENSP00000431282:T93P	ENSP00000364166:T143P	T	-	1	0	TMEM225	123260028	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	0.004000	0.14682	-0.263000	0.10527	ACT		TCGA-IB-7651-01A-11D-2154-08	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	1	0	1	88	347	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	83	333	0	58	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM225	338661	broad.mit.edu	37	11	123754867	123754867	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754867T>G	ENST00000375026.2	-	3	594	c.378A>C	c.(376-378)caA>caC	p.Q126H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225			28					TGGATTGACCTTGCTTCAGCT	0.373000																								0							SO:0001583	missense			ENST00000375026.2	1	1	hg19	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	5.286	0.238253	0.10023	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69306	-0.39;-0.39	4.84	0.998	0.19857	.	0.666048	0.13298	N	0.398474	T	0.43897	0.1268	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.22753	0.041	T	0.30880	-0.9963	10	0.49607	T	0.09	-0.9408	3.1305	0.06421	0.1383:0.0847:0.1405:0.6364	.	126	Q6GV28	TM225_HUMAN	H	126;76	ENSP00000364166:Q126H;ENSP00000431282:Q76H	ENSP00000364166:Q126H	Q	-	3	2	TMEM225	123260077	0.454000	0.25728	0.099000	0.21106	0.001000	0.01503	0.556000	0.23438	0.032000	0.15435	-1.532000	0.00920	CAA		TCGA-IB-7651-01A-11D-2154-08	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	1	0	1	98	444	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	97	430	0	77	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8D4	338662	broad.mit.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123777647G>T	ENST00000321355.2	+	1	539	c.509G>T	c.(508-510)gGa>gTa	p.G170V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4			25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TCTTTCTGTGGATCAAACATC	0.418000																								0							SO:0001583	missense			ENST00000321355.2	1	1	hg19	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629197	0.28978	.	.	ENSG00000181518	ENST00000321355	T	0.38401	1.14	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.58935	0.2157	M	0.88704	2.975	0.09310	N	1	P	0.50528	0.936	P	0.62885	0.908	T	0.50516	-0.8819	10	0.51188	T	0.08	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	V	170	ENSP00000325381:G170V	ENSP00000325381:G170V	G	+	2	0	OR8D4	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	1	0	0	100	1151	0	219		0	0	0	0	219	2		0	0	0	0	0	2	1	1	99	1122	0	216	2								-19.838590	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.940000	0.770000	1.000000	1.000000	0.934627	0.940000	1	8.500000e-01	1
OR4D5	219875	broad.mit.edu	37	11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	rs143337717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123811251G>T	ENST00000307033.2	+	1	1002	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5			41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			GGACCCTATTGGTCCCCTGGA	0.502000																								0							SO:0001583	missense			ENST00000307033.2	1	1	hg19	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732086	0.30684	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00291	8.27	4.06	0.94	0.19513	.	1.922100	0.03237	U	0.179774	T	0.00178	0.0005	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39185	0.293	T	0.43048	-0.9415	10	0.72032	D	0.01	1.7891	4.7886	0.13238	0.2185:0.1741:0.6074:0.0	.	310	Q8NGN0	OR4D5_HUMAN	C	310	ENSP00000305970:G310C	ENSP00000305970:G310C	G	+	1	0	OR4D5	123316461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.090000	0.15025	0.080000	0.16959	-1.109000	0.02080	GGT		TCGA-IB-7651-01A-11D-2154-08	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	1	0	1	70	322	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	69	315	0	70	2								-2.789015	1	1	121404	1	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6T1	219874	broad.mit.edu	37	11	123813879	123813879	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123813879C>T	ENST00000321252.2	-	1	701	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	p.A223S(1)		40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			AGAACAGTGGCAAGAATGCAG	0.537000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000321252.2	1	1	hg19	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	5.029	0.190997	0.09547	.	.	ENSG00000181499	ENST00000321252	T	0.37411	1.2	3.7	0.481	0.16809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17577	0.0422	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.23404	-1.0189	9	0.59425	D	0.04	-13.4277	1.7649	0.03000	0.3642:0.3464:0.1786:0.1108	.	223	Q8NGN1	OR6T1_HUMAN	T	223	ENSP00000325203:A223T	ENSP00000325203:A223T	A	-	1	0	OR6T1	123319089	0.000000	0.05858	0.039000	0.18376	0.603000	0.37013	-3.221000	0.00552	-0.097000	0.12307	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	1	0	1	43	300	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	43	293	0	92	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999742	0.990000	1	9.900000e-01	1
OR10S1	219873	broad.mit.edu	37	11	123847714	123847714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847714C>T	ENST00000531945.1	-	1	774	c.685G>A	c.(685-687)Gtt>Att	p.V229I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	p.V229I(1)		36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TAGGAAATAACGATGAGGATG	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000531945.1	1	1	hg19	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	0.756	-0.771154	0.02974	.	.	ENSG00000196248	ENST00000531945	T	0.00256	8.42	4.85	-9.7	0.00521	GPCR, rhodopsin-like superfamily (1);	1.014880	0.07935	N	0.978190	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.35671	T	0.21	-8.6411	10.3645	0.44015	0.0677:0.1727:0.0824:0.6771	.	229	Q8NGN2	O10S1_HUMAN	I	229	ENSP00000431914:V229I	ENSP00000431914:V229I	V	-	1	0	OR10S1	123352924	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.012000	0.00160	-3.372000	0.00177	-2.983000	0.00079	GTT		TCGA-IB-7651-01A-11D-2154-08	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	1	0	1	76	299	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	73	294	0	69	2								-2.171593	0	1	121412	6	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10S1	219873	broad.mit.edu	37	11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	rs141270826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847863C>T	ENST00000531945.1	-	1	625	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1			36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			GTAGAGCAGGCGGAAGGTGAG	0.552000																								0							SO:0001583	missense			ENST00000531945.1	1	1	hg19	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101556	0.20632	0.0	1.16E-4	ENSG00000196248	ENST00000531945	T	0.00169	8.63	4.89	-9.78	0.00496	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00109	0.0003	N	0.13098	0.295	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.40627	-0.9553	10	0.30078	T	0.28	0.5192	13.0874	0.59149	0.0:0.3187:0.0747:0.6065	.	179	Q8NGN2	O10S1_HUMAN	H	179	ENSP00000431914:R179H	ENSP00000431914:R179H	R	-	2	0	OR10S1	123353073	0.000000	0.05858	0.114000	0.21550	0.846000	0.48090	-4.084000	0.00298	-2.039000	0.00917	-0.405000	0.06341	CGC		TCGA-IB-7651-01A-11D-2154-08	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	1	0	1	58	297	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	57	291	0	61	2								-3.241267	1	1	121412	3	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10G9	219870	broad.mit.edu	37	11	123894465	123894465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123894465G>A	ENST00000375024.1	+	1	746	c.746G>A	c.(745-747)tGc>tAc	p.C249Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9			61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			GTGGTCCTTTGCTTTTTTGTT	0.532000																								0							SO:0001583	missense			ENST00000375024.1	1	1	hg19	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212605	0.39102	.	.	ENSG00000236981	ENST00000375024	T	0.00076	8.76	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00241	0.0007	N	0.22421	0.69	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60627	-0.7226	10	0.87932	D	0	.	9.6678	0.39994	0.0:0.3635:0.6365:0.0	.	249	Q8NGN4	O10G9_HUMAN	Y	249	ENSP00000364164:C249Y	ENSP00000364164:C249Y	C	+	2	0	OR10G9	123399675	0.000000	0.05858	0.970000	0.41538	0.819000	0.46315	0.517000	0.22832	1.884000	0.54569	0.586000	0.80456	TGC		TCGA-IB-7651-01A-11D-2154-08	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	1	0	1	122	495	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1	118	482	0	118	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10G7	390265	broad.mit.edu	37	11	123909487	123909487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123909487G>A	ENST00000330487.5	-	1	230	c.222C>T	c.(220-222)gtC>gtT	p.V74V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7			47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TGGGCACCGTGACAGTGGAGA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000330487.5	0	1	hg19	CCDS31705.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	0	0	0	27	831	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	9.999959e-01	20	577	0	200	2								-3.167245	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.370000	0.250000	1.000000	0.370000	0.405981	0.370000	0	3.000000e-01	4.700000e-01
VWA5A	4013	broad.mit.edu	37	11	123993815	123993815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123993815G>T	ENST00000456829.2	+	8	1160	c.909G>T	c.(907-909)caG>caT	p.Q303H	VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A			47					ATACATCTCAGCTGCGAATAC	0.473000																								0							SO:0001583	missense			ENST00000456829.2	1	1	hg19	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802283	0.50315	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.22336	2.54;1.96;2.54;2.17;2.17;2.16	5.96	0.729	0.18266	von Willebrand factor, type A (3);	0.387974	0.28940	N	0.013646	T	0.41073	0.1143	M	0.83312	2.635	0.09310	N	0.999999	P;D	0.89917	0.902;1.0	B;D	0.77557	0.411;0.99	T	0.17653	-1.0362	10	0.54805	T	0.06	-12.7857	5.2398	0.15465	0.4039:0.1379:0.4582:0.0	.	319;303	B4DHS6;O00534	.;VMA5A_HUMAN	H	303;303;303;303;303;319	ENSP00000407726:Q303H;ENSP00000353485:Q303H;ENSP00000376504:Q303H;ENSP00000355070:Q303H;ENSP00000404683:Q303H;ENSP00000376501:Q319H	ENSP00000353485:Q303H	Q	+	3	2	VWA5A	123499025	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.323000	0.19593	-0.104000	0.12154	-0.150000	0.13652	CAG		TCGA-IB-7651-01A-11D-2154-08	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	1	0	1	45	139	0	45	1	1	79	125	0	45	2		0	0	0	0	0	2	1	1	43	137	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8G5	219865	broad.mit.edu	37	11	124135190	124135190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124135190C>T	ENST00000524943.2	+	1	468	c.468C>T	c.(466-468)gaC>gaT	p.D156D	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5					Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TGGCATATGACGGCTACGTGG	0.443000													Ovarian(169;523 1969 8640 31295 51256)											0							SO:0001819	synonymous_variant			ENST00000524943.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	0	0	0	131	596	1	143		0	0	0	1	143	2		0	0	0	0	0	2	1	1	129	590	1	143	18								-20.000000	1	1	121250	8	44	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8D2	283160	broad.mit.edu	37	11	124189745	124189745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124189745C>A	ENST00000357438.2	-	1	439	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2			25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TATTCCATGGCTGTCAGAAGG	0.408000																								0							SO:0001583	missense			ENST00000357438.2	1	1	hg19	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	2.879	-0.232208	0.05983	.	.	ENSG00000197263	ENST00000357438	T	0.03065	4.06	3.6	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.140010	0.32416	N	0.006128	T	0.03095	0.0091	L	0.51422	1.61	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.36016	-0.9765	10	0.06236	T	0.91	.	6.9376	0.24474	0.0:0.7022:0.0:0.2978	.	117	Q9GZM6	OR8D2_HUMAN	S	117	ENSP00000350022:A117S	ENSP00000350022:A117S	A	-	1	0	OR8D2	123694955	0.000000	0.05858	0.068000	0.19968	0.204000	0.24138	0.169000	0.16641	1.117000	0.41842	0.420000	0.28162	GCC		TCGA-IB-7651-01A-11D-2154-08	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	1	0	1	53	198	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	52	195	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8D2	283160	broad.mit.edu	37	11	124190029	124190029	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124190029T>C	ENST00000357438.2	-	1	155	c.65A>G	c.(64-66)gAa>gGa	p.E22G		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2			25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			CAGTTGAAGTTCTGGGCGTTG	0.438000																								0							SO:0001583	missense			ENST00000357438.2	1	1	hg19	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	t	12.32	1.902945	0.33628	.	.	ENSG00000197263	ENST00000357438	T	0.00444	7.4	3.42	2.3	0.28687	.	0.142247	0.31577	N	0.007408	T	0.00384	0.0012	L	0.46741	1.465	0.26868	N	0.967817	D	0.56035	0.974	P	0.47981	0.563	T	0.55431	-0.8142	10	0.40728	T	0.16	.	8.0264	0.30440	0.0:0.1052:0.0:0.8948	.	22	Q9GZM6	OR8D2_HUMAN	G	22	ENSP00000350022:E22G	ENSP00000350022:E22G	E	-	2	0	OR8D2	123695239	0.001000	0.12720	0.939000	0.37840	0.187000	0.23431	0.995000	0.29706	0.712000	0.32039	0.324000	0.21423	GAA		TCGA-IB-7651-01A-11D-2154-08	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	1	0	1	104	411	0	137		0	0	0	0	137	2		0	0	0	0	0	2	1	1	103	402	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8B8	26493	broad.mit.edu	37	11	124310687	124310687	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124310687T>G	ENST00000328064.2	-	1	367	c.295A>C	c.(295-297)Act>Cct	p.T99P		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8			39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			AAGAGCTGAGTCATACACCCT	0.438000																								0							SO:0001583	missense			ENST00000328064.2	1	1	hg19	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106168	0.56291	.	.	ENSG00000197125	ENST00000328064	T	0.08896	3.04	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.138563	0.33346	N	0.005003	T	0.28665	0.0710	M	0.94142	3.5	0.31201	N	0.699808	D	0.56746	0.977	P	0.57620	0.824	T	0.43734	-0.9373	10	0.87932	D	0	.	6.2589	0.20889	0.0:0.1584:0.0:0.8416	.	99	Q15620	OR8B8_HUMAN	P	99	ENSP00000330280:T99P	ENSP00000330280:T99P	T	-	1	0	OR8B8	123815897	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-1.976000	0.01497	1.831000	0.53308	0.455000	0.32223	ACT		TCGA-IB-7651-01A-11D-2154-08	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	1	0	0	29	336	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	29	330	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.940000	0.650000	1.000000	1.000000	0.910372	0.940000	1	7.800000e-01	1
OR8B12	219858	broad.mit.edu	37	11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12			31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			GGCCACGTAGCGGTCATACGC	0.502000																								0							SO:0001583	missense			ENST00000306842.2	1	1	hg19	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392891	0.62066	2.27E-4	0.0	ENSG00000170953	ENST00000306842	T	0.77489	-1.1	3.89	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	D	0.84138	0.5406	M	0.71871	2.18	0.39888	D	0.973737	D	0.76494	0.999	P	0.62435	0.902	D	0.86343	0.1706	10	0.87932	D	0	.	11.6445	0.51253	0.0:0.9073:0.0:0.0927	.	121	Q8NGG6	OR8BC_HUMAN	H	121	ENSP00000307159:R121H	ENSP00000307159:R121H	R	-	2	0	OR8B12	123918399	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.628000	0.61282	1.200000	0.43188	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1	1	0	1	41	249	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	41	245	0	85	2								-19.383230	1	1	121408	4	38	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999968	0.990000	1	9.900000e-01	1
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase			15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			TGCCAAAAGGCGAGTCTCTAT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000263593.3	1	1	hg19	CCDS8449.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	0	0	1	124	473	0	113	1	1	99	192	0	113	2		0	0	0	0	0	2	1	1	122	462	0	112	2								-3.833728	1	1	121412	1	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPA17	53340	broad.mit.edu	37	11	124545184	124545184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124545184C>T	ENST00000532692.1	+	1	1445	c.24C>T	c.(22-24)acC>acT	p.T8T	SIAE_ENST00000545756.1_5'Flank|SIAE_ENST00000263593.3_5'Flank|SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Silent_p.T8T			Q15506	SP17_HUMAN	sperm autoantigenic protein 17			5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			TCTCCAACACCCACTACCGAA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000532692.1	1	1	hg19	CCDS8450.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	1	0	1	71	450	0	109	1	9.969190e-01	21	36	0	109	2		0	0	0	0	0	2	1	1	69	444	0	109	2								-3.017801	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
VSIG2	23584	broad.mit.edu	37	11	124618371	124618371	+	Missense_Mutation	SNP	G	G	T	rs140273632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124618371G>T	ENST00000326621.5	-	6	866	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	VSIG2_ENST00000403470.1_Missense_Mutation_p.L256M|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2			19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			GCAACTGACAGCAACAGCACG	0.582000																								0							SO:0001583	missense			ENST00000326621.5	1	1	hg19	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579365	0.65878	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.77489	-1.1;-1.08	5.65	3.6	0.41247	.	0.270881	0.27366	N	0.019694	D	0.86049	0.5840	M	0.82823	2.61	0.32550	N	0.532482	D	0.76494	0.999	D	0.85130	0.997	D	0.87226	0.2257	10	0.72032	D	0.01	.	6.5355	0.22350	0.2235:0.0:0.7765:0.0	.	256	Q96IQ7	VSIG2_HUMAN	M	256	ENSP00000318684:L256M;ENSP00000385013:L256M	ENSP00000318684:L256M	L	-	1	2	VSIG2	124123581	0.997000	0.39634	0.953000	0.39169	0.928000	0.56348	1.559000	0.36320	1.560000	0.49568	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	1	0	1	70	315	0	72	1	8.988552e-01	3	17	0	72	2		0	0	0	0	0	2	1	1	70	304	0	71	2								-3.414569	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO3	64221	broad.mit.edu	37	11	124738946	124738946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124738946G>A	ENST00000397801.1	+	2	601	c.409G>A	c.(409-411)Gac>Aac	p.D137N	ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)			35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)			CGCGCGGCCGGACGAAGGTGT	0.687000																								0							SO:0001583	missense			ENST00000397801.1	0	1	hg19	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	36	5.791849	0.96945	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.80994	-1.44;-1.44	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000579	D	0.91791	0.7403	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93877	0.7167	10	0.87932	D	0	.	17.2808	0.87128	0.0:0.0:1.0:0.0	.	137	Q96MS0	ROBO3_HUMAN	N	137;115	ENSP00000380903:D137N;ENSP00000441797:D115N	ENSP00000380903:D137N	D	+	1	0	ROBO3	124244156	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.801000	0.99128	2.171000	0.68590	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	1	11	63	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.987678e-01	11	63	0	12	2								-19.806980	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.920000	1.000000	1.000000	0.994875	0.990000	1	9.900000e-01	1
ROBO3	64221	broad.mit.edu	37	11	124740119	124740119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124740119G>A	ENST00000397801.1	+	5	1017	c.825G>A	c.(823-825)gtG>gtA	p.V275V	ROBO3_ENST00000538940.1_Silent_p.V253V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)			35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)			ATGCCCCTGTGACTTTCCTAT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000397801.1	1	1	hg19	CCDS44755.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	1	66	268	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	65	263	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO3	64221	broad.mit.edu	37	11	124742317	124742317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742317G>A	ENST00000397801.1	+	8	1391	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)			35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)			CCGACGGGGCGCTTCTCAGTG	0.612000																								0							SO:0001583	missense			ENST00000397801.1	1	1	hg19	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643303	0.87859	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.79653	-1.29;-1.29	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000777	D	0.89252	0.6662	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88843	0.3314	10	0.54805	T	0.06	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	400	Q96MS0	ROBO3_HUMAN	H	400;378	ENSP00000380903:R400H;ENSP00000441797:R378H	ENSP00000380903:R400H	R	+	2	0	ROBO3	124247527	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	5.583000	0.67484	2.695000	0.91970	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	1	75	258	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	73	254	0	57	2								-4.246930	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO3	64221	broad.mit.edu	37	11	124742334	124742334	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742334A>C	ENST00000397801.1	+	8	1408	c.1216A>C	c.(1216-1218)Aga>Cga	p.R406R	ROBO3_ENST00000538940.1_Silent_p.R384R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)			35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)			AGTGTCTCCAAGAGGCCAACT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000397801.1	1	1	hg19	CCDS44755.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	1	76	259	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	75	256	0	60	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO4	54538	broad.mit.edu	37	11	124765426	124765426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765426G>A	ENST00000306534.3	-	6	1448	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ROBO4_ENST00000533054.1_Silent_p.F176F|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)			76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)			GTCTCACTTTGAACTCGTAGT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000306534.3	1	1	hg19	CCDS8455.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	1	0	1	111	475	0	84	0	9.972136e-01	0	40	0	84	2		0	0	0	0	0	2	1	1	108	470	0	83	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO4	54538	broad.mit.edu	37	11	124765468	124765468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000533054.1_Silent_p.S162S|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	p.S307S(1)		76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)			CAAGCTCTGCGCTCTGCCAGC	0.657000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000306534.3	1	1	hg19	CCDS8455.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	1	0	0	26	498	0	80	0	4.555170e-01	0	30	0	80	2		0	0	0	0	0	2	1	9.999999e-01	26	490	0	80	2								-20.000000	1	0	121356	27	44	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.590000	0.390000	1.000000	0.580000	0.616062	0.590000	0	4.800000e-01	7.300000e-01
ROBO4	54538	broad.mit.edu	37	11	124765734	124765734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765734G>A	ENST00000306534.3	-	5	1239	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)			76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)			GCAGGATCCGGGTTCAGCAGT	0.597000																								0							SO:0001583	missense			ENST00000306534.3	1	1	hg19	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789721	0.16258	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.65364	-0.15;0.24	4.96	2.95	0.34219	Fibronectin, type III (2);	0.000000	0.38663	N	0.001609	T	0.46737	0.1408	L	0.51422	1.61	0.09310	N	1	P;P	0.44734	0.763;0.842	B;B	0.36959	0.173;0.237	T	0.36986	-0.9725	10	0.30078	T	0.28	.	5.3735	0.16152	0.1024:0.0:0.685:0.2125	.	142;252	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	S	252;142;107	ENSP00000304945:P252S;ENSP00000437129:P107S	ENSP00000304945:P252S	P	-	1	0	ROBO4	124270944	0.999000	0.42202	0.949000	0.38748	0.042000	0.13812	1.314000	0.33597	1.324000	0.45282	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	1	0	1	76	316	0	56	0	9.755326e-01	0	27	0	56	2		0	0	0	0	0	2	1	1	75	310	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEPACAM	220296	broad.mit.edu	37	11	124793679	124793679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124793679C>T	ENST00000298251.4	-	3	1060	c.655G>A	c.(655-657)Gtg>Atg	p.V219M		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule			22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			GGGTTCTCCACCATGCAGCTG	0.577000																								0							SO:0001583	missense			ENST00000298251.4	0	1	hg19	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178303	0.94846	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.14266	2.52	5.56	5.56	0.83823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053931	0.64402	D	0.000001	T	0.47021	0.1423	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.977	T	0.54443	-0.8293	10	0.72032	D	0.01	-9.3497	19.5031	0.95104	0.0:1.0:0.0:0.0	.	219;219	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	M	219	ENSP00000298251:V219M	ENSP00000298251:V219M	V	-	1	0	HEPACAM	124298889	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.814000	0.86154	2.605000	0.88082	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	0	0	0	8	289	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	9.885640e-01	8	282	0	49	2								-8.790743	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.330000	0.150000	1.000000	0.310000	0.374628	0.330000	0	2.300000e-01	4.800000e-01
CCDC15	80071	broad.mit.edu	37	11	124845009	124845009	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124845009A>C	ENST00000344762.5	+	5	793	c.534A>C	c.(532-534)aaA>aaC	p.K178N	CCDC15_ENST00000529051.1_Missense_Mutation_p.K178N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15			23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			AAACTATGAAACAGGCACGTC	0.408000																								0							SO:0001583	missense			ENST00000344762.5	0	1	hg19	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257472	0.59321	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.43294	0.96;0.95	5.49	-0.499	0.12015	.	0.146210	0.44097	D	0.000494	T	0.56337	0.1978	M	0.71581	2.175	0.23855	N	0.996653	D	0.76494	0.999	D	0.79784	0.993	T	0.48811	-0.9002	10	0.72032	D	0.01	-11.9158	8.8787	0.35360	0.5446:0.0:0.4554:0.0	.	178	Q0P6D6	CCD15_HUMAN	N	178	ENSP00000435403:K178N;ENSP00000341684:K178N	ENSP00000341684:K178N	K	+	3	2	CCDC15	124350219	0.993000	0.37304	0.993000	0.49108	0.690000	0.40134	0.110000	0.15437	-0.008000	0.14320	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	1	0	1	14	75	0	14	1	3.251053e-01	3	4	0	14	2		0	0	0	0	0	2	1	9.998388e-01	14	75	0	14	2								-10.250010	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998335	0.990000	1	9.900000e-01	1
CCDC15	80071	broad.mit.edu	37	11	124857477	124857477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124857477G>A	ENST00000344762.5	+	8	1614	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	CCDC15_ENST00000529051.1_Missense_Mutation_p.R452K	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15			23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			TTCCTACCCAGAGACCAGCAT	0.408000																								0							SO:0001583	missense			ENST00000344762.5	1	1	hg19	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	0.655	-0.807992	0.02819	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29917	1.59;1.55	3.4	-5.98	0.02220	.	1.037760	0.07723	N	0.943966	T	0.10852	0.0265	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.35325	-0.9793	10	0.02654	T	1	-0.0822	1.9469	0.03358	0.1979:0.288:0.3713:0.1428	.	452	Q0P6D6	CCD15_HUMAN	K	452	ENSP00000435403:R452K;ENSP00000341684:R452K	ENSP00000341684:R452K	R	+	2	0	CCDC15	124362687	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-1.489000	0.02306	-1.056000	0.03205	0.563000	0.77884	AGA		TCGA-IB-7651-01A-11D-2154-08	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	1	0	1	74	442	0	141	0	1.035061e-01	0	4	0	141	2		0	0	0	0	0	2	1	1	72	431	0	140	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC15	80071	broad.mit.edu	37	11	124875078	124875078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124875078G>T	ENST00000344762.5	+	13	2640	c.2381G>T	c.(2380-2382)aGg>aTg	p.R794M	CCDC15_ENST00000529051.1_Missense_Mutation_p.R794M	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15			23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			GAACAACAAAGGCAAAAAGAA	0.323000																								0							SO:0001583	missense			ENST00000344762.5	0	1	hg19	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224578	0.79576	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.51817	0.77;0.69	5.42	5.42	0.78866	.	0.203936	0.25302	N	0.031658	T	0.67924	0.2945	M	0.64404	1.975	0.34015	D	0.651963	D	0.89917	1.0	D	0.91635	0.999	T	0.76088	-0.3087	10	0.87932	D	0	-7.2111	18.3628	0.90380	0.0:0.0:1.0:0.0	.	794	Q0P6D6	CCD15_HUMAN	M	794	ENSP00000435403:R794M;ENSP00000341684:R794M	ENSP00000341684:R794M	R	+	2	0	CCDC15	124380288	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.052000	0.57420	2.689000	0.91719	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	0	0	0	3	34	0	14	1	1.662456e-01	2	5	0	14	2		0	0	0	0	0	2	1	8.038781e-01	3	33	0	14	2								-7.892837	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.300000	1.000000	1.000000	0.843390	0.990000	1	5.800000e-01	1
SLC37A2	219855	broad.mit.edu	37	11	124951718	124951718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124951718C>T	ENST00000403796.2	+	9	1102	c.801C>T	c.(799-801)agC>agT	p.S267S	SLC37A2_ENST00000298280.5_Silent_p.S267S|SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000407458.1_Silent_p.S267S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2			27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)			TCAGGGAGAGCGGCCTTGAGA	0.597000													Melanoma(11;373 620 21213 26083 47768)											0							SO:0001819	synonymous_variant			ENST00000403796.2	1	1	hg19	CCDS44757.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	0	0	1	42	234	1	61	0	7.771128e-01	0	34	1	61	4		0	0	0	0	0	2	1	9.999580e-01	42	231	1	61	15								-20.000000	1	1	121412	8	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
TMEM218	219854	broad.mit.edu	37	11	124972114	124972114	+	Silent	SNP	G	G	A	rs7114520	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124972114G>A	ENST00000279968.4	-	3	347	c.24C>T	c.(22-24)gtC>gtT	p.V8V	TMEM218_ENST00000531262.1_Intron|TMEM218_ENST00000455225.1_Silent_p.V8V|TMEM218_ENST00000527766.1_Silent_p.V8V|TMEM218_ENST00000528724.1_Silent_p.V8V|TMEM218_ENST00000531909.1_Silent_p.V8V|TMEM218_ENST00000526175.1_Silent_p.V8V|TMEM218_ENST00000529609.1_Silent_p.V8V|TMEM218_ENST00000532156.1_Silent_p.V8V|TMEM218_ENST00000527271.1_Silent_p.V8V|TMEM218_ENST00000529583.1_Silent_p.V8V|TMEM218_ENST00000532407.1_Silent_p.V8V			A2RU14	TM218_HUMAN	transmembrane protein 218			5					CGCCCGCACCGACTCCGAGCA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000279968.4	1	0	hg19	CCDS31715.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM218-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386849.1	0	0	1	38	171	0	36	1	9.833004e-01	10	22	0	36	2		0	0	0	0	0	2	1	1	38	171	0	35	2								-1.922891	0	1	121326	2953	63	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1251032	1251032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251032C>T	ENST00000529681.1	+	10	1273	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	MUC5B_ENST00000447027.1_Silent_p.S408S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CCACCTGCAGCTCCTGGTACT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000529681.1	0	1	hg19	CCDS44515.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	10	55	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.972251e-01	9	54	0	13	2								-18.966080	1	1	120146	4	29	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.910000	1.000000	1.000000	0.994449	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1251768	1251768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251768G>A	ENST00000529681.1	+	12	1466	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G473S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GCGGAAGTGCGGCCTGACGGA	0.657000																								0							SO:0001583	missense			ENST00000529681.1	1	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433412	0.25813	2.35E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.58358	0.34;0.34	4.13	4.13	0.48395	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.73241	0.3562	M	0.83953	2.67	0.40202	D	0.977524	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66716	0.831;0.925;0.946	T	0.80484	-0.1362	9	0.87932	D	0	.	15.9972	0.80260	0.0:0.0:1.0:0.0	.	470;1129;473	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	470;473;471;506	ENSP00000436812:G470S;ENSP00000415793:G473S	ENSP00000343037:G471S	G	+	1	0	MUC5B	1208344	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	6.924000	0.75823	1.851000	0.53745	0.305000	0.20034	GGC		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	15	97	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999047e-01	15	96	0	25	2								-19.999930	1	1	120852	3	31	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.930000	1.000000	1.000000	0.995647	0.990000	1	9.900000e-01	1
PKNOX2	63876	broad.mit.edu	37	11	125255507	125255507	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125255507C>A	ENST00000298282.9	+	6	559	c.288C>A	c.(286-288)ggC>ggA	p.G96G	PKNOX2_ENST00000542175.1_Silent_p.G32G|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2			29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)			CCACCCAGGGCTCTGAGTGCA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000298282.9	1	1	hg19	CCDS41730.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3	0	0	0	19	458	0	95	0	1.026238e-02	0	4	0	95	2		0	0	0	0	0	2	1	9.999884e-01	19	445	0	93	2								-18.180240	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.480000	0.290000	1.000000	0.470000	0.507817	0.480000	0	3.700000e-01	6.100000e-01
MUC5B	727897	broad.mit.edu	37	11	1252652	1252652	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1252652G>A	ENST00000529681.1	+	14	1598		c.e14-1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			ACTCCCGGCAGCCAACATCAC	0.647000																								0							SO:0001630	splice_region_variant			ENST00000529681.1	1	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673878	0.29693	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5066	0.75745	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC5B	1209228	1.000000	0.71417	0.882000	0.34594	0.119000	0.20118	8.723000	0.91458	1.614000	0.50241	0.462000	0.41574	.		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	25	92	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	9.999999e-01	25	88	0	28	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PKNOX2	63876	broad.mit.edu	37	11	125267823	125267823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125267823C>T	ENST00000298282.9	+	7	724	c.453C>T	c.(451-453)gtC>gtT	p.V151V	PKNOX2_ENST00000542175.1_Silent_p.V87V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2			29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)			TGGAGAAAGTCAATGAACTCT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000298282.9	1	1	hg19	CCDS41730.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3	1	0	1	93	361	0	103	0	2.757330e-01	0	5	0	103	2		0	0	0	0	0	2	1	1	93	347	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EI24	9538	broad.mit.edu	37	11	125445239	125445239	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125445239T>C	ENST00000278903.6	+	3	365	c.123T>C	c.(121-123)cgT>cgC	p.R41R	EI24_ENST00000530985.1_3'UTR|RNU6-1156P_ENST00000410365.1_RNA|EI24_ENST00000343678.4_Silent_p.R41R|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4			11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			AGGAGCAGCGTCGAAGAAGGG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000278903.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	7	31	0	10	1	1	148	256	0	10	2		0	0	0	0	0	2	1	9.736562e-01	5	28	0	10	2								-7.977784	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.880000	1.000000	1.000000	0.992844	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1254494	1254494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1254494G>A	ENST00000529681.1	+	18	2375	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V776M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CGAGGGCGCCGTGTGGTAAGG	0.697000																								0							SO:0001583	missense			ENST00000529681.1	0	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.866	1.197696	0.22037	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22539	1.95;1.95	4.99	-1.4	0.08968	.	.	.	.	.	T	0.14313	0.0346	L	0.39397	1.21	0.09310	N	1	P;D;D	0.54047	0.487;0.964;0.964	B;B;B	0.39660	0.015;0.306;0.306	T	0.19745	-1.0296	9	0.87932	D	0	.	6.3433	0.21335	0.427:0.1201:0.4529:0.0	.	773;1432;776	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	M	773;776;774;809	ENSP00000436812:V773M;ENSP00000415793:V776M	ENSP00000343037:V774M	V	+	1	0	MUC5B	1211070	0.036000	0.19791	0.059000	0.19551	0.001000	0.01503	0.405000	0.21015	-0.063000	0.13065	-0.373000	0.07131	GTG		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	0	13	39	0	9	0	0	0	1	0	9	2		0	0	0	0	0	2	1	9.996444e-01	13	36	0	9	2								-20.000000	1	1	116930	3	26	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999857	0.990000	1	9.900000e-01	1
EI24	9538	broad.mit.edu	37	11	125451139	125451139	+	Nonsense_Mutation	SNP	G	G	T	rs3017282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125451139G>T	ENST00000278903.6	+	9	948	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Intron|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4			11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			GTCTAACATAGAAAGGAATTG	0.368000																								0							SO:0001587	stop_gained			ENST00000278903.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	39	7.653943	0.98412	.	.	ENSG00000149547	ENST00000278903	.	.	.	5.41	5.41	0.78517	.	0.091308	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000278903:E236X	E	+	1	0	EI24	124956349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.826000	0.97356	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	26	168	0	28	1	1	68	350	0	28	2		0	0	0	0	0	2	1	9.999999e-01	26	164	0	28	2								-3.323181	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999263	0.990000	1	9.900000e-01	1
ACRV1	56	broad.mit.edu	37	11	125542528	125542528	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125542528A>C	ENST00000533904.1	-	4	1100	c.758T>G	c.(757-759)aTt>aGt	p.I253S	ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S|ACRV1_ENST00000315608.3_Missense_Mutation_p.I234S|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000530048.1_Missense_Mutation_p.I198S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.I183S			P26436	ASPX_HUMAN	acrosomal vesicle protein 1			6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			ACAGCATATAATTTGCATCCT	0.443000																								0							SO:0001583	missense			ENST00000533904.1	1	1	hg19	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.642964	0.67244	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000425431;ENST00000353070;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	4.26	4.26	0.50523	.	0.109289	0.40222	N	0.001156	T	0.43590	0.1254	M	0.64404	1.975	0.37751	D	0.925961	P;D;D;P;D;D;D;D;D	0.89917	0.929;0.999;1.0;0.95;1.0;0.976;0.98;0.984;0.959	P;D;D;P;D;P;P;P;P	0.69824	0.762;0.95;0.966;0.625;0.966;0.707;0.81;0.791;0.583	T	0.45041	-0.9288	10	0.48119	T	0.1	-3.8873	10.0696	0.42325	1.0:0.0:0.0:0.0	.	253;234;143;69;158;198;109;183;164	P26436;P26436-2;P26436-8;P26436-11;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.;.;.	S	253;234;198;183;164;158;153;143;109;69;234;198;183	ENSP00000432816:I253S;ENSP00000407846:I234S;ENSP00000257382:I198S;ENSP00000411583:I183S;ENSP00000397448:I164S;ENSP00000412653:I158S;ENSP00000257385:I153S;ENSP00000257383:I143S;ENSP00000395453:I109S;ENSP00000257386:I69S;ENSP00000317684:I234S;ENSP00000433720:I198S;ENSP00000436819:I183S	ENSP00000257382:I198S	I	-	2	0	ACRV1	125047738	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.646000	0.54396	2.151000	0.67156	0.523000	0.50628	ATT		TCGA-IB-7651-01A-11D-2154-08	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	1	0	1	105	495	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	103	489	0	94	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1255461	1255461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255461G>A	ENST00000529681.1	+	20	2462	c.2404G>A	c.(2404-2406)Gac>Aac	p.D802N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D805N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GGTGTACCTGGACTGCAGCAA	0.687000																								0							SO:0001583	missense			ENST00000529681.1	1	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282631	0.23392	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16324	2.35;2.35	4.21	3.28	0.37604	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	T	0.18882	0.0453	L	0.37507	1.11	0.31973	N	0.606944	B;P;P	0.42357	0.077;0.777;0.777	B;B;B	0.42738	0.136;0.396;0.396	T	0.09079	-1.0691	9	0.87932	D	0	.	15.1372	0.72576	0.0779:0.0:0.9221:0.0	.	802;1461;805	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	802;805;803;838	ENSP00000436812:D802N;ENSP00000415793:D805N	ENSP00000343037:D803N	D	+	1	0	MUC5B	1212037	0.995000	0.38212	0.873000	0.34254	0.350000	0.29205	2.155000	0.42301	0.431000	0.26258	-1.634000	0.00779	GAC		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	13	53	0	15	0	1.138107e-01	1	2	0	15	2		0	0	0	0	0	2	1	9.996149e-01	12	51	0	15	2								-19.999960	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999471	0.990000	1	9.900000e-01	1
ACRV1	56	broad.mit.edu	37	11	125546291	125546291	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125546291C>A	ENST00000533904.1	-	3	978	c.636G>T	c.(634-636)caG>caT	p.Q212H	ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H|ACRV1_ENST00000315608.3_Missense_Mutation_p.Q193H|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000530048.1_Missense_Mutation_p.Q157H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000527795.1_Missense_Mutation_p.Q142H			P26436	ASPX_HUMAN	acrosomal vesicle protein 1			6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			GCTGGGAATTCTGAGTGATGC	0.398000																								0							SO:0001583	missense			ENST00000533904.1	1	1	hg19	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598244	0.66332	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000425431;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	4.69	2.76	0.32466	.	0.178796	0.27415	N	0.019476	T	0.42787	0.1218	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.984;0.967;0.996;0.985;0.974;0.998;0.996	P;P;D;P;P;D;D	0.66847	0.851;0.748;0.921;0.864;0.641;0.947;0.94	T	0.26608	-1.0098	10	0.59425	D	0.04	-0.0754	5.1993	0.15254	0.2036:0.6892:0.0:0.1072	.	212;193;117;157;68;142;123	P26436;P26436-2;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	H	212;193;157;142;123;117;112;68;193;157;142	ENSP00000432816:Q212H;ENSP00000407846:Q193H;ENSP00000257382:Q157H;ENSP00000411583:Q142H;ENSP00000397448:Q123H;ENSP00000412653:Q117H;ENSP00000257385:Q112H;ENSP00000395453:Q68H;ENSP00000317684:Q193H;ENSP00000433720:Q157H;ENSP00000436819:Q142H	ENSP00000257382:Q157H	Q	-	3	2	ACRV1	125051501	0.948000	0.32251	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	0.660000	0.30964	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	1	0	1	106	432	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	105	424	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1255465	1255465	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255465G>T	ENST00000529681.1	+	20	2466	c.2408G>T	c.(2407-2409)tGc>tTc	p.C803F	MUC5B_ENST00000447027.1_Missense_Mutation_p.C806F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TACCTGGACTGCAGCAACAGC	0.692000																								0							SO:0001583	missense			ENST00000529681.1	1	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	11.87	1.768045	0.31320	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.98264	-4.83;-4.83	4.21	4.21	0.49690	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	D	0.99351	0.9772	H	0.97540	4.025	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.98376	1.0556	9	0.87932	D	0	.	16.7386	0.85454	0.0:0.0:1.0:0.0	.	803;1462;806	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	F	803;806;804;839	ENSP00000436812:C803F;ENSP00000415793:C806F	ENSP00000343037:C804F	C	+	2	0	MUC5B	1212041	1.000000	0.71417	0.927000	0.36925	0.356000	0.29392	6.844000	0.75390	2.180000	0.69256	0.457000	0.33378	TGC		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	13	54	0	14	0	1.108389e-01	1	2	0	14	2		0	0	0	0	0	2	1	9.996133e-01	12	52	0	14	2								-19.999960	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999421	0.990000	1	9.900000e-01	1
PUS3	83480	broad.mit.edu	37	11	125765172	125765172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125765172C>A	ENST00000530811.1	-	2	936	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E297D|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3			10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)			CATCAATAATCTCTGGCTTCT	0.403000																								0							SO:0001583	missense			ENST00000530811.1	1	1	hg19	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811514	0.32053	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.55930	0.49;0.49	5.73	-1.31	0.09230	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.143577	0.64402	N	0.000008	T	0.29976	0.0750	L	0.35341	1.055	0.40461	D	0.980245	B	0.12630	0.006	B	0.15052	0.012	T	0.04115	-1.0976	10	0.31617	T	0.26	-5.9672	0.7425	0.00976	0.2463:0.32:0.1106:0.3231	.	297	Q9BZE2	PUS3_HUMAN	D	297	ENSP00000227474:E297D;ENSP00000432386:E297D	ENSP00000227474:E297D	E	-	3	2	PUS3	125270382	0.020000	0.18652	0.517000	0.27799	0.997000	0.91878	-0.097000	0.11042	-0.252000	0.09528	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	1	0	1	91	397	0	82	1	9.998902e-01	14	46	0	82	2		0	0	0	0	0	2	1	1	88	376	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX25	29118	broad.mit.edu	37	11	125788671	125788671	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125788671A>C	ENST00000263576.6	+	10	1342	c.1187A>C	c.(1186-1188)aAt>aCt	p.N396T	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25			10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			ATAACAACTAATGTTTGTGCC	0.448000																								0							SO:0001583	missense			ENST00000263576.6	0	1	hg19	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	A	8.770	0.925599	0.18056	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.04758	3.56	5.36	5.36	0.76844	Helicase, C-terminal (3);	0.144864	0.48767	D	0.000163	T	0.21022	0.0506	M	0.76727	2.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.00293	-1.1841	10	0.87932	D	0	-12.2522	14.344	0.66646	1.0:0.0:0.0:0.0	.	396;396	B4DHI6;Q9UHL0	.;DDX25_HUMAN	T	282;396;262	ENSP00000263576:N396T	ENSP00000263576:N396T	N	+	2	0	DDX25	125293881	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	8.870000	0.92336	2.047000	0.60756	0.459000	0.35465	AAT		TCGA-IB-7651-01A-11D-2154-08	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	0	0	0	16	52	0	10	0	0	1	0	0	10	2		0	0	0	0	0	2	1	9.999559e-01	15	50	0	10	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1258188	1258188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1258188G>A	ENST00000529681.1	+	25	3149	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D1034N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GAACTTCGACGACAATGCCAT	0.672000																								0							SO:0001583	missense			ENST00000529681.1	1	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.57595	0.39;0.39	4.38	3.47	0.39725	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.42988	0.1227	L	0.41710	1.295	0.32694	N	0.513784	P;B;P	0.46142	0.873;0.26;0.5	B;B;B	0.38296	0.27;0.057;0.155	T	0.57734	-0.7760	9	0.87932	D	0	.	12.4879	0.55883	0.0825:0.0:0.9175:0.0	.	1031;1724;1034	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	1031;1034;1032;1101	ENSP00000436812:D1031N;ENSP00000415793:D1034N	ENSP00000343037:D1032N	D	+	1	0	MUC5B	1214764	1.000000	0.71417	0.805000	0.32314	0.093000	0.18481	4.749000	0.62155	0.834000	0.34852	-0.368000	0.07277	GAC		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	17	69	0	15	0	4.366701e-02	0	2	0	15	2		0	0	0	0	0	2	1	9.999732e-01	17	65	0	14	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999883	0.990000	1	9.900000e-01	1
CDON	50937	broad.mit.edu	37	11	125853983	125853983	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125853983G>A	ENST00000392693.3	-	16	2906	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	CDON_ENST00000531738.1_Missense_Mutation_p.R304C|CDON_ENST00000263577.7_Missense_Mutation_p.R927C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated			61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CCAGGAACACGTTTCACTAGT	0.453000																								0							SO:0001583	missense			ENST00000392693.3	1	1	hg19	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948655	0.73787	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.70282	-0.46;0.22;-0.47	5.89	5.89	0.94794	.	0.000000	0.49916	D	0.000125	D	0.83078	0.5176	M	0.70595	2.14	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.943	D	0.84068	0.0378	10	0.72032	D	0.01	-22.7941	15.0262	0.71671	0.0:0.0:0.8578:0.1422	.	927;927;304	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	C	927;304;927	ENSP00000376458:R927C;ENSP00000432901:R304C;ENSP00000263577:R927C	ENSP00000263577:R927C	R	-	1	0	CDON	125359193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.783000	0.95769	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	1	0	1	36	155	0	49	0	5.341747e-01	1	8	0	49	2		0	0	0	0	0	2	1	1	35	152	0	49	2								-20.000000	1	1	121412	1	26	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPUSD4	84881	broad.mit.edu	37	11	126079531	126079531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126079531G>A	ENST00000298317.4	-	3	495	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	FAM118B_ENST00000533050.1_5'Flank|FAM118B_ENST00000529731.1_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.L148L|RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000360194.4_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4			17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)			CGGTGGCACAGATGCAAGGGC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000298317.4	1	1	hg19	CCDS8469.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	1	0	0	202	1016	0	272	1	9.999802e-01	24	53	0	272	2		0	0	0	0	0	2	1	1	195	995	0	267	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRPR	6734	broad.mit.edu	37	11	126133894	126133894	+	Missense_Mutation	SNP	C	C	T	rs149620514	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126133894C>T	ENST00000332118.6	-	14	1988	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	SRPR_ENST00000532259.1_Missense_Mutation_p.V584I	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)			21	all_hematologic(175;0.145)				CCCACAAAGACGATGGGTTTG	0.537000																								0							SO:0001583	missense			ENST00000332118.6	1	1	hg19	CCDS31717.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	26.2	4.712081	0.89112	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.89	4.89	0.63831	Signal recognition particle, SRP54 subunit, GTPase (3);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.41124	1.26	0.80722	D	1	D;P	0.56521	0.976;0.951	P;P	0.51453	0.67;0.67	T	0.59600	-0.7424	9	0.38643	T	0.18	-17.3446	18.2376	0.89954	0.0:1.0:0.0:0.0	.	584;612	E9PJS4;P08240	.;SRPR_HUMAN	I	612;584	.	ENSP00000328023:V612I	V	-	1	0	SRPR	125639104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.631000	0.83237	2.535000	0.85469	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	1	0	1	99	398	0	95	1	1	153	545	0	95	2		0	0	0	0	0	2	1	1	98	386	0	94	2								-20.000000	1	1	121412	4	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCPS	28960	broad.mit.edu	37	11	126213270	126213270	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126213270G>A	ENST00000263579.4	+	5	1034	c.705G>A	c.(703-705)ccG>ccA	p.P235P	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger			17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)			ACCTTACTCCGGAGCACTTGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000263579.4	0	1	hg19	CCDS8473.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	0	0	0	6	153	0	28	1	9.708231e-01	12	155	0	28	2		0	0	0	0	0	2	1	9.607799e-01	6	146	0	26	2								-3.322393	1	1	121412	2	27	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.480000	0.200000	1.000000	0.440000	0.516352	0.480000	0	3.100000e-01	7.100000e-01
MUC5B	727897	broad.mit.edu	37	11	1262147	1262147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1262147G>T	ENST00000529681.1	+	31	4095	c.4037G>T	c.(4036-4038)gGg>gTg	p.G1346V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G1349V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TGGTACAATGGGCACCGCCCA	0.652000																								0							SO:0001583	missense			ENST00000529681.1	1	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616679	0.14129	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15952	2.38;2.38	3.62	0.494	0.16884	.	.	.	.	.	T	0.07007	0.0178	N	0.04090	-0.28	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.30251	0.103;0.113	T	0.32268	-0.9913	9	0.87932	D	0	.	3.0683	0.06221	0.09:0.1427:0.3309:0.4364	.	2039;1349	A7Y9J9;E9PBJ0	.;.	V	1346;1349;1347;1416	ENSP00000436812:G1346V;ENSP00000415793:G1349V	ENSP00000343037:G1347V	G	+	2	0	MUC5B	1218723	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.920000	0.01571	-0.086000	0.12550	0.313000	0.20887	GGG		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	0	19	188	0	37	0	2.646875e-02	0	3	0	37	2		0	0	0	0	0	2	1	9.999914e-01	19	184	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.680000	1.000000	1.000000	0.954463	0.990000	1	8.700000e-01	1
DCPS	28960	broad.mit.edu	37	11	126215338	126215338	+	Missense_Mutation	SNP	G	G	A	rs35029167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215338G>A	ENST00000263579.4	+	6	1173	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger			17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)			GCACTTCACCGCCCTGGGCTT	0.632000																								0							SO:0001583	missense			ENST00000263579.4	1	1	hg19	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637183	0.67130	.	.	ENSG00000110063	ENST00000263579	D	0.95821	-3.82	5.16	5.16	0.70880	Histidine triad, conserved site (1);Histidine triad-like motif (1);	0.367893	0.30969	N	0.008519	D	0.95201	0.8444	L	0.43152	1.355	0.43122	D	0.994846	D	0.64830	0.994	P	0.53954	0.738	D	0.93806	0.7105	10	0.23302	T	0.38	-15.2573	18.7289	0.91726	0.0:0.0:1.0:0.0	.	282	Q96C86	DCPS_HUMAN	T	282	ENSP00000263579:A282T	ENSP00000263579:A282T	A	+	1	0	DCPS	125720548	0.997000	0.39634	0.997000	0.53966	0.787000	0.44495	4.946000	0.63576	2.421000	0.82119	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	1	0	1	121	558	0	119	1	1	40	88	0	119	2		0	0	0	0	0	2	1	1	119	549	0	119	2								-20.000000	1	1	121410	5	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST3GAL4	6484	broad.mit.edu	37	11	126278040	126278040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126278040C>T	ENST00000526727.1	+	6	762	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4			9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)			GCACCGGCTGCGGAACAGCTC	0.577000																								0							SO:0001583	missense			ENST00000526727.1	1	1	hg19	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812726	0.50527	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.19	3.17	0.36434	.	.	.	.	.	T	0.50171	0.1600	M	0.64404	1.975	0.28631	N	0.90763	D;D	0.64830	0.994;0.994	D;D	0.65233	0.933;0.933	T	0.46803	-0.9165	9	0.72032	D	0.01	.	13.6837	0.62502	0.3868:0.6132:0.0:0.0	.	126;130	Q6IBE6;Q11206	.;SIA4C_HUMAN	W	126;130;136;126;130;130;130;130;119;129;125	ENSP00000227495:R126W;ENSP00000394354:R130W;ENSP00000348451:R136W;ENSP00000433989:R126W;ENSP00000433318:R130W;ENSP00000432424:R130W;ENSP00000376437:R130W;ENSP00000436047:R130W;ENSP00000399444:R119W;ENSP00000434349:R129W;ENSP00000434668:R125W	ENSP00000227495:R126W	R	+	1	2	ST3GAL4	125783250	0.964000	0.33143	0.510000	0.27712	0.212000	0.24457	2.227000	0.42972	1.287000	0.44583	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	1	0	1	59	289	0	53	1	1	18	197	0	53	2		0	0	0	0	0	2	1	1	57	286	0	52	2								-2.958013	1	1	121410	1	26	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST3GAL4	6484	broad.mit.edu	37	11	126283899	126283899	+	Missense_Mutation	SNP	G	G	A	rs143689441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126283899G>A	ENST00000526727.1	+	10	1333	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4			9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)			GCCATTAAGCGGATGCTGGAG	0.572000																								0							SO:0001583	missense			ENST00000526727.1	1	1	hg19	CCDS58193.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.49	3.837154	0.71373	2.27E-4	0.002094	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.63	5.63	0.86233	.	.	.	.	.	T	0.39064	0.1064	L	0.43152	1.355	0.38415	D	0.946021	D;D	0.67145	0.996;0.996	P;P	0.56563	0.801;0.801	T	0.12451	-1.0547	9	0.32370	T	0.25	.	12.2135	0.54394	0.0781:0.0:0.9219:0.0	.	316;320	Q6IBE6;Q11206	.;SIA4C_HUMAN	Q	316;320;326;316;320;320;320;309;319;315	ENSP00000227495:R316Q;ENSP00000394354:R320Q;ENSP00000348451:R326Q;ENSP00000433989:R316Q;ENSP00000433318:R320Q;ENSP00000376437:R320Q;ENSP00000436047:R320Q;ENSP00000399444:R309Q;ENSP00000434349:R319Q;ENSP00000434668:R315Q	ENSP00000227495:R316Q	R	+	2	0	ST3GAL4	125789109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.864000	0.48404	2.656000	0.90262	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	0	0	1	39	218	0	45	1	1	17	165	0	45	2		0	0	0	0	0	2	1	1	39	213	0	45	2								-2.829208	1	1	121412	142	53	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
KIRREL3	84623	broad.mit.edu	37	11	126294626	126294626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294626C>T	ENST00000525144.2	-	17	2435	c.2186G>A	c.(2185-2187)aGc>aAc	p.S729N	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N|KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)			29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)			GCTGACGCTGCTGTCACACTG	0.622000																								0							SO:0001583	missense			ENST00000525144.2	1	1	hg19	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736977	0.89482	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.46451	0.87;0.87;0.87	4.88	4.88	0.63580	.	0.048757	0.85682	D	0.000000	T	0.28896	0.0717	N	0.14661	0.345	0.54753	D	0.999985	B;B	0.33694	0.421;0.421	B;B	0.29785	0.107;0.107	T	0.17837	-1.0356	10	0.52906	T	0.07	-13.4121	17.8235	0.88657	0.0:1.0:0.0:0.0	.	717;729	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	N	729;717;196	ENSP00000435466:S729N;ENSP00000434081:S717N;ENSP00000408692:S196N	ENSP00000408692:S196N	S	-	2	0	KIRREL3	125799836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.277000	0.78572	2.543000	0.85770	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	1	0	0	36	375	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	36	370	0	86	2								-11.581280	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.740000	1.000000	1.000000	0.957802	0.990000	1	8.800000e-01	1
KIRREL3	84623	broad.mit.edu	37	11	126294877	126294877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294877C>T	ENST00000525144.2	-	17	2184	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	KIRREL3_ENST00000529097.2_Silent_p.E633E|KIRREL3_ENST00000416561.2_Silent_p.E112E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)			29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)			TTGAGTGGTGCTCTTTGAAGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000525144.2	0	1	hg19	CCDS53723.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	1	0	1	11	69	0	17	0	1.624168e-01	0	5	0	17	2		0	0	0	0	0	2	1	9.983056e-01	11	65	0	17	2								-19.262010	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.860000	1.000000	1.000000	0.992063	0.990000	1	9.900000e-01	1
KIRREL3	84623	broad.mit.edu	37	11	126316668	126316668	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126316668G>A	ENST00000525144.2	-	9	1360	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)			29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)			CCGGAGCCCCGCTTCATCCAG	0.647000																								0							SO:0001583	missense			ENST00000525144.2	1	1	hg19	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733469	0.48939	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.28069	1.63;1.63;1.63	4.77	3.84	0.44239	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.55101	-0.8193	10	0.87932	D	0	.	13.6927	0.62556	0.0:0.0:0.844:0.156	.	371;371;371	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	W	371	ENSP00000435466:R371W;ENSP00000434081:R371W;ENSP00000435094:R371W	ENSP00000435466:R371W	R	-	1	2	KIRREL3	125821878	0.993000	0.37304	1.000000	0.80357	0.403000	0.30841	2.427000	0.44740	0.949000	0.37715	0.297000	0.19635	CGG		TCGA-IB-7651-01A-11D-2154-08	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	1	0	1	7	41	0	19	0	2.823529e-02	0	2	0	19	2		0	0	0	0	0	2	1	9.820674e-01	6	41	0	19	2								-14.098840	1	1	120788	5	31	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.750000	1.000000	1.000000	0.983978	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1263600	1263600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1263600C>A	ENST00000529681.1	+	31	5548	c.5490C>A	c.(5488-5490)tgC>tgA	p.C1830*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.C1833*|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GCATAGAGTGCCGGGCGGAGA	0.597000																								0							SO:0001587	stop_gained			ENST00000529681.1	0	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	42	9.487211	0.99184	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.64	-0.141	0.13452	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4732	0.44648	0.0:0.6651:0.0:0.3349	.	.	.	.	X	1830;1833;1831;1900	.	ENSP00000343037:C1831X	C	+	3	2	MUC5B	1220176	0.000000	0.05858	0.670000	0.29842	0.106000	0.19336	-0.806000	0.04525	0.072000	0.16694	-0.674000	0.03794	TGC		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	61	252	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	56	245	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1264986	1264986	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1264986C>A	ENST00000529681.1	+	31	6934	c.6876C>A	c.(6874-6876)cgC>cgA	p.R2292R	MUC5B_ENST00000447027.1_Silent_p.R2295R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GCAAGACCCGCACCTCGACCC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000529681.1	1	1	hg19	CCDS44515.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	0	88	1056	0	212	0	0	1	0	0	212	2		0	0	0	0	0	2	1	1	63	824	0	222	2								-18.133100	1	1	120970	1	29	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.910000	0.730000	1.000000	1.000000	0.907770	0.910000	1	8.100000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1265997G>A	ENST00000529681.1	+	31	7945	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T	MUC5B_ENST00000447027.1_Silent_p.T2632T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	p.T2608T(1)|p.T2629T(1)		137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CGGCACGCACGCTTCCAGTGT	0.637000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000529681.1	1	0	hg19	CCDS44515.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	90	379	0	109	0	0	0	1	0	109	2		0	0	0	0	0	2	1	1	87	361	0	107	2								-1.541174	0	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1266175	1266175	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1266175T>C	ENST00000529681.1	+	31	8123	c.8065T>C	c.(8065-8067)Tca>Cca	p.S2689P	MUC5B_ENST00000447027.1_Missense_Mutation_p.S2692P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TACTcccccatcactgaccac	0.617000																								0							SO:0001583	missense			ENST00000529681.1	0	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.899145	0.00517	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.21031	2.03;2.22	2.0	-3.99	0.04069	.	.	.	.	.	T	0.10594	0.0259	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24764	-1.0151	9	0.87932	D	0	.	2.3821	0.04357	0.1005:0.338:0.2342:0.3273	.	2692	E9PBJ0	.	P	2689;2692;2661	ENSP00000436812:S2689P;ENSP00000415793:S2692P	ENSP00000343037:S2661P	S	+	1	0	MUC5B	1222751	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.299000	0.00257	-4.729000	0.00034	-3.193000	0.00055	TCA		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	0	0	0	6	40	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.438055e-01	5	33	0	20	2								-2.874287	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.650000	1.000000	1.000000	0.969693	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1267146	1267146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1267146G>A	ENST00000529681.1	+	31	9094	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P	MUC5B_ENST00000447027.1_Silent_p.P3015P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CGGCCATCCCGTCCTCCACCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000529681.1	1	1	hg19	CCDS44515.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	177	745	0	190		0	0	0	0	190	2		0	0	0	0	0	2	1	1	172	718	0	185	2								-3.517335	1	1	121224	195	57	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1270821	1270821	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1270821G>A	ENST00000529681.1	+	31	12769	c.12711G>A	c.(12709-12711)acG>acA	p.T4237T	MUC5B_ENST00000447027.1_Silent_p.T4240T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CCAGCTCTACGGCCATGCCCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000529681.1	0	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	2.339	-0.351471	0.05173	.	.	ENSG00000117983	ENST00000535652	.	.	.	2.04	-0.63	0.11530	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	5	0.11182	T	0.66	.	5.9617	0.19303	0.1572:0.2557:0.587:0.0	.	.	.	.	Q	17	.	ENSP00000439776:R17Q	R	+	2	0	MUC5B	1227397	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.433000	0.02428	0.114000	0.18032	0.393000	0.25936	CGG		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	0	137	642	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	104	500	0	234	2								-2.941845	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1272392	1272392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1272392C>T	ENST00000529681.1	+	31	14340	c.14282C>T	c.(14281-14283)aCg>aTg	p.T4761M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4764M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	p.T4716M(1)|p.T4761M(1)		137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CTGTGGACCACGTGGACCGTC	0.582000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000529681.1	1	1	hg19	CCDS44515.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	3.663|3.663	-0.069163|-0.069163	0.07228|0.07228	4.6E-4|4.6E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000535652|ENST00000529681;ENST00000447027;ENST00000349637	.|T;T	.|0.23552	.|1.9;2.08	1.83|1.83	-3.67|-3.67	0.04476|0.04476	.|.	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|P	.|0.38250	.|0.624	.|B	.|0.28139	.|0.086	T|T	0.08351|0.08351	-1.0726|-1.0726	6|9	0.54805|0.87932	T|D	0.06|0	.|.	5.0104|5.0104	0.14310|0.14310	0.4155:0.4485:0.0:0.136|0.4155:0.4485:0.0:0.136	.|.	.|4764	.|E9PBJ0	.|.	C|M	533|4761;4764;4705	.|ENSP00000436812:T4761M;ENSP00000415793:T4764M	ENSP00000439776:R533C|ENSP00000343037:T4705M	R|T	+|+	1|2	0|0	MUC5B|MUC5B	1228968|1228968	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.000000|0.000000	0.12993|0.12993	-0.953000|-0.953000	0.03645|0.03645	0.194000|0.194000	0.17425|0.17425	CGT|ACG		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	102	441	0	120	0	2.407881e-01	0	5	0	120	2		0	0	0	0	0	2	1	1	95	421	0	114	2								-20.000000	1	1	121188	6	43	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1275968	1275968	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1275968C>T	ENST00000529681.1	+	35	15580	c.15522C>T	c.(15520-15522)aaC>aaT	p.N5174N	MUC5B_ENST00000447027.1_Silent_p.N5177N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TCAGCAAGAACGGCGTGCTTG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000529681.1	1	1	hg19	CCDS44515.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	33	150	0	51	1	6.204327e-01	7	4	0	51	2		0	0	0	0	0	2	1	1	33	146	0	51	2								-20.000000	1	1	120860	3	33	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1278796	1278796	+	Missense_Mutation	SNP	G	G	A	rs55657020	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1278796G>A	ENST00000529681.1	+	41	16364	c.16306G>A	c.(16306-16308)Gtg>Atg	p.V5436M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V5439M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CCAGTCCTGCGTGTGTGACGA	0.662000																								0							SO:0001583	missense			ENST00000529681.1	1	0	hg19	CCDS44515.2	35	0.016025641025641024	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	30	0.0395778364116095	G	5.789	0.329996	0.10956	0.007459	0.031714	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.54279	0.58;0.58	4.95	0.711	0.18162	.	.	.	.	.	T	0.10937	0.0267	L	0.41236	1.265	0.09310	N	1	P;P	0.44260	0.83;0.83	B;B	0.36608	0.177;0.229	T	0.07908	-1.0748	9	0.87932	D	0	.	5.1074	0.14790	0.2692:0.1497:0.5811:0.0	rs55657020	5773;5439	A7Y9J9;E9PBJ0	.;.	M	5436;5439;5380;335;5148	ENSP00000436812:V5436M;ENSP00000415793:V5439M	ENSP00000343037:V5380M	V	+	1	0	MUC5B	1235372	0.000000	0.05858	0.033000	0.17914	0.276000	0.26787	0.268000	0.18571	0.121000	0.18284	0.549000	0.68633	GTG		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	0	0	1	33	122	0	29	1	4.658235e-01	4	3	0	29	2		0	0	0	0	0	2	1	1	32	120	0	29	2								-1.535018	0	1	120484	3256	64	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1279584	1279584	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1279584G>T	ENST00000529681.1	+	43	16638	c.16580G>T	c.(16579-16581)gGc>gTc	p.G5527V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5530V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TCGTACAATGGCACCTTCTAC	0.627000																								0							SO:0001583	missense			ENST00000529681.1	1	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.870	0.727900	0.15507	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.73789	-0.78;-0.78;-0.78	4.91	1.72	0.24424	.	.	.	.	.	T	0.78966	0.4367	M	0.61703	1.905	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.64144	0.922;0.922	T	0.65335	-0.6193	9	0.87932	D	0	.	3.7086	0.08411	0.2141:0.0:0.5932:0.1926	.	5864;5530	A7Y9J9;E9PBJ0	.;.	V	5527;5530;5471;426;5239;72	ENSP00000436812:G5527V;ENSP00000415793:G5530V;ENSP00000434539:G72V	ENSP00000343037:G5471V	G	+	2	0	MUC5B	1236160	0.003000	0.15002	0.045000	0.18777	0.015000	0.08874	0.981000	0.29526	0.564000	0.29238	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	17	90	0	18	0	3.883223e-01	1	7	0	18	2		0	0	0	0	0	2	1	9.999793e-01	17	90	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999290	0.990000	1	9.900000e-01	1
FLI1	2313	broad.mit.edu	37	11	128680721	128680721	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128680721C>T	ENST00000527786.2	+	9	1686	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	FLI1_ENST00000344954.6_Silent_p.N366N|FLI1_ENST00000534087.2_Silent_p.N366N|FLI1_ENST00000525560.1_Silent_p.N206N|FLI1_ENST00000281428.8_Silent_p.N333N	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor		EWSR1/FLI1(2569)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)			AGAAGGTGAACTTTGTCCCTC	0.572000			T	EWSR1	Ewing sarcoma										Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0							SO:0001819	synonymous_variant			ENST00000527786.2	1	1	hg19	CCDS44768.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	1	0	0	13	238	0	49	0	9.570290e-01	0	100	0	49	2		0	0	0	0	0	2	1	9.994715e-01	13	230	0	49	2								-15.755740	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.630000	0.350000	1.000000	1.000000	0.652914	0.630000	0	4.700000e-01	8.300000e-01
KCNJ1	3758	broad.mit.edu	37	11	128709054	128709054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128709054G>A	ENST00000392664.2	-	2	1258	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	KCNJ1_ENST00000392665.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1			23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATTGACTTCTGACAAGATGAA	0.433000																								0							SO:0001583	missense			ENST00000392664.2	1	1	hg19	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	2.846	-0.239413	0.05944	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.39	5.61	4.67	0.58626	.	0.761422	0.12512	N	0.462434	T	0.76962	0.4061	N	0.08118	0	0.30629	N	0.757678	B	0.14012	0.009	B	0.06405	0.002	T	0.63093	-0.6714	10	0.08837	T	0.75	.	14.3961	0.67013	0.0:0.0:0.7371:0.2629	.	381	P48048	IRK1_HUMAN	L	362;362;362;362;381	ENSP00000376433:S362L;ENSP00000376434:S362L;ENSP00000406320:S362L;ENSP00000316233:S362L;ENSP00000376432:S381L	ENSP00000316233:S362L	S	-	2	0	KCNJ1	128214264	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.657000	0.61490	2.635000	0.89317	0.563000	0.77884	TCA		TCGA-IB-7651-01A-11D-2154-08	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	1	0	1	38	214	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	36	212	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
KCNJ5	3762	broad.mit.edu	37	11	128781835	128781835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128781835G>A	ENST00000338350.4	+	3	1019	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_ENST00000529694.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5			26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		Glyburide(DB01016)	CCGGGTGGGCGACCTCCGCAA	0.597000													Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)											0							SO:0001583	missense			ENST00000338350.4	1	1	hg19	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617202	0.46736	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	L	0.28400	0.85	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.09843	T	0.71	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	223	P48544	IRK5_HUMAN	N	223	ENSP00000433295:D223N;ENSP00000339960:D223N;ENSP00000434266:D223N	ENSP00000339960:D223N	D	+	1	0	KCNJ5	128287045	1.000000	0.71417	0.951000	0.38953	0.824000	0.46624	8.062000	0.89475	2.556000	0.86216	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	1	0	1	79	428	0	96	0	3.036606e-01	0	7	0	96	2		0	0	0	0	0	2	1	1	78	417	0	94	2								-20.000000	1	1	121398	1	32	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNJ5	3762	broad.mit.edu	37	11	128786590	128786590	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128786590G>A	ENST00000338350.4	+	4	1576	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	KCNJ5_ENST00000529694.1_Silent_p.G408G|KCNJ5_ENST00000533599.1_Silent_p.G408G			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5			26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		Glyburide(DB01016)	AGCCCAAGGGGCTGGGTGGGT	0.647000													Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)											0							SO:0001819	synonymous_variant			ENST00000338350.4	1	1	hg19	CCDS8479.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	1	0	1	33	138	0	23	0	1.023321e-01	0	3	0	23	2		0	0	0	0	0	2	1	1	33	138	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ARHGAP32	9743	broad.mit.edu	37	11	128839218	128839218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839218G>A	ENST00000310343.9	-	22	5847	c.5848C>T	c.(5848-5850)Cga>Tga	p.R1950*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32			60					ACCCAGGGTCGCTCCATCTCT	0.517000																								0							SO:0001587	stop_gained			ENST00000310343.9	0	1	hg19	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	41	8.648363	0.98899	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.95	0.409	0.16382	.	0.091682	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1038	0.53801	0.0641:0.0:0.5541:0.3818	.	.	.	.	X	1950;1601;1601	.	ENSP00000310561:R1950X	R	-	1	2	ARHGAP32	128344428	0.640000	0.27243	0.274000	0.24659	0.971000	0.66376	0.127000	0.15790	-0.184000	0.10567	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	1	0	1	116	417	0	99	1	9.999863e-01	22	38	0	99	2		0	0	0	0	0	2	1	1	114	409	0	98	2								-20.000000	1	1	121412	1	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP32	9743	broad.mit.edu	37	11	128839523	128839523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839523G>A	ENST00000310343.9	-	22	5542	c.5543C>T	c.(5542-5544)aCg>aTg	p.T1848M	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32			60					CTCCGGCTGCGTGCTACCATG	0.617000																								0							SO:0001583	missense			ENST00000310343.9	1	1	hg19	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116592	0.06838	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.08720	3.06;3.06;3.06	6.07	-0.14	0.13456	.	0.721795	0.13291	N	0.399017	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.26310	0.068	T	0.40757	-0.9546	10	0.49607	T	0.09	.	2.2666	0.04080	0.2839:0.4168:0.1589:0.1404	.	1848	A7KAX9	RHG32_HUMAN	M	1848;1499;1499	ENSP00000310561:T1848M;ENSP00000376425:T1499M;ENSP00000432862:T1499M	ENSP00000310561:T1848M	T	-	2	0	ARHGAP32	128344733	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.729000	0.26028	-0.262000	0.09392	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	1	0	1	62	277	0	60	1	9.999251e-01	20	45	0	60	2		0	0	0	0	0	2	1	1	61	271	0	60	2								-20.000000	1	1	121412	6	37	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP32	9743	broad.mit.edu	37	11	128844286	128844286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128844286C>T	ENST00000310343.9	-	20	2763	c.2764G>A	c.(2764-2766)Gtc>Atc	p.V922I	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V573I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32			60					GTACCAATGACTTCTGACACC	0.458000																								0							SO:0001583	missense			ENST00000310343.9	1	1	hg19	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463911	0.26335	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.81	5.81	0.92471	.	0.522811	0.19795	N	0.105895	T	0.20577	0.0495	L	0.57536	1.79	0.22366	N	0.999161	B;B	0.30741	0.008;0.293	B;B	0.24541	0.016;0.054	T	0.17048	-1.0382	10	0.49607	T	0.09	.	9.7703	0.40585	0.1405:0.7889:0.0:0.0706	.	856;922	Q86T64;A7KAX9	.;RHG32_HUMAN	I	922;573;848;856;573	ENSP00000310561:V922I;ENSP00000376425:V573I;ENSP00000432468:V848I;ENSP00000432862:V573I	ENSP00000310561:V922I	V	-	1	0	ARHGAP32	128349496	0.960000	0.32886	1.000000	0.80357	0.683000	0.39861	1.044000	0.30329	2.745000	0.94114	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	1	0	1	93	311	0	70	1	9.928197e-01	10	18	0	70	2		0	0	0	0	0	2	1	1	92	307	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEAD1	7003	broad.mit.edu	37	11	12901216	12901216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12901216C>T	ENST00000526600.1	+	1	227	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527575.1_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)			17					GGTAGCCATGCGTTATGTATT	0.483000																								0							SO:0001583	missense			ENST00000526600.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	7.230	0.599157	0.13939	.	.	ENSG00000187079	ENST00000526600	T	0.56444	0.46	6.06	-4.89	0.03103	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	8	0.87932	D	0	.	2.6722	0.05070	0.0975:0.3874:0.1928:0.3224	.	2	E9PKB7	.	C	2	ENSP00000435393:R2C	ENSP00000435393:R2C	R	+	1	0	TEAD1	12857792	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-0.221000	0.09202	-0.826000	0.04284	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	0	0	0	7	292	0	56	0	7.920618e-04	0	2	0	56	2		0	0	0	0	0	2	1	9.792452e-01	7	285	0	55	2								-7.570547	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.290000	0.120000	1.000000	0.270000	0.335266	0.290000	0	2.000000e-01	4.300000e-01
BARX2	8538	broad.mit.edu	37	11	129321161	129321161	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129321161A>G	ENST00000281437.4	+	4	800	c.704A>G	c.(703-705)gAg>gGg	p.E235G	BARX2_ENST00000526127.1_Missense_Mutation_p.E90G|BARX2_ENST00000531946.1_Missense_Mutation_p.E113G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2			20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			GAGCAGCTGGAGCCCTCTCAG	0.577000																								0							SO:0001583	missense			ENST00000281437.4	1	1	hg19	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181217	0.38511	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.90504	-2.68;-2.32;-2.3	5.51	-1.45	0.08828	.	0.968359	0.08586	N	0.923773	T	0.79215	0.4408	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61840	-0.6980	10	0.30078	T	0.28	.	4.3094	0.10964	0.4623:0.3558:0.0668:0.1151	.	235	Q9UMQ3	BARX2_HUMAN	G	235;90;113	ENSP00000281437:E235G;ENSP00000451113:E90G;ENSP00000450418:E113G	ENSP00000281437:E235G	E	+	2	0	BARX2	128826371	0.008000	0.16893	0.000000	0.03702	0.013000	0.08279	1.171000	0.31896	-0.552000	0.06167	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	1	0	0	18	369	0	60	0	3.792622e-01	1	26	0	60	2		0	0	0	0	0	2	1	9.999798e-01	17	362	0	58	2								-19.212780	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.560000	0.340000	1.000000	0.550000	0.586209	0.560000	0	4.400000e-01	7.200000e-01
PRDM10	56980	broad.mit.edu	37	11	129784704	129784704	+	Silent	SNP	C	C	T	rs147190509	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129784704C>T	ENST00000360871.3	-	17	2967	c.2736G>A	c.(2734-2736)acG>acA	p.T912T	PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000358825.5_Silent_p.T916T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000423662.2_Silent_p.T830T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10			48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			CCCCTTGTGGCGTTCGGTAGT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000360871.3	1	1	hg19	CCDS8484.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	1	0	1	207	1064	0	225	0	6.894213e-01	0	14	0	225	2		0	0	0	0	0	2	1	1	204	1044	0	223	2								-6.490225	1	1	121412	55	53	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM10	56980	broad.mit.edu	37	11	129793151	129793151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129793151G>A	ENST00000360871.3	-	13	2257	c.2026C>T	c.(2026-2028)Caa>Taa	p.Q676*	PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*|PRDM10_ENST00000358825.5_Nonsense_Mutation_p.Q680*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10			48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			ACCTTAAATTGCTTCCCACAG	0.507000											OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001587	stop_gained			ENST00000360871.3	0	1	hg19	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	40	8.335163	0.98764	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-13.4947	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	680;590;676;594;650;594;393	.	ENSP00000302669:Q590X	Q	-	1	0	PRDM10	129298361	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.247000	0.95444	2.937000	0.99478	0.650000	0.86243	CAA		TCGA-IB-7651-01A-11D-2154-08	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	1	0	1	8	29	0	11	0	8.712567e-01	0	16	0	11	2		0	0	0	0	0	2	1	9.911733e-01	8	28	0	10	2								-17.333530	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.997264	0.990000	1	9.900000e-01	1
PRDM10	56980	broad.mit.edu	37	11	129804999	129804999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129804999C>T	ENST00000360871.3	-	9	1385	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N	PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000358825.5_Missense_Mutation_p.S385N|PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10			48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			TACATACCTGCTAAACACATC	0.418000																								0							SO:0001583	missense			ENST00000360871.3	1	1	hg19	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	c	14.87	2.665007	0.47572	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10382	2.9;2.9;2.9;2.88;2.95;2.88;2.98	5.11	4.17	0.49024	.	0.170685	0.52532	D	0.000073	T	0.12178	0.0296	L	0.27053	0.805	0.40702	D	0.982499	B;B;P;B;B;P;P	0.46784	0.023;0.152;0.884;0.201;0.039;0.73;0.782	B;B;P;B;B;B;B	0.46076	0.012;0.036;0.503;0.024;0.027;0.37;0.24	T	0.04413	-1.0953	10	0.66056	D	0.02	.	15.1785	0.72934	0.0:0.8532:0.1468:0.0	.	299;385;385;385;299;299;299	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	N	385;299;385;299;359;299;102	ENSP00000351686:S385N;ENSP00000302669:S299N;ENSP00000354118:S385N;ENSP00000398431:S299N;ENSP00000431262:S359N;ENSP00000432237:S299N;ENSP00000435940:S102N	ENSP00000302669:S299N	S	-	2	0	PRDM10	129310209	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.494000	0.45329	1.127000	0.42034	0.486000	0.48141	AGC		TCGA-IB-7651-01A-11D-2154-08	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	1	0	1	107	522	0	171	1	3.427721e-01	2	5	0	171	2		0	0	0	0	0	2	1	1	101	503	0	168	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APLP2	334	broad.mit.edu	37	11	129993589	129993589	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129993589C>T	ENST00000263574.5	+	7	1077	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	APLP2_ENST00000528499.1_Intron|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Silent_p.C335C|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.C345C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2			31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)			AGGGAAAGTGCGTGCGCTTTA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000263574.5	1	1	hg19	CCDS8486.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	1	0	0	38	616	0	95	1	1	30	664	0	95	2		0	0	0	0	0	2	1	1	38	610	0	93	2								-6.751520	1	1	121412	1	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.690000	0.490000	1.000000	0.680000	0.708550	0.690000	0	5.800000e-01	8.200000e-01
APLP2	334	broad.mit.edu	37	11	130011402	130011402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130011402G>A	ENST00000263574.5	+	16	2041	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	APLP2_ENST00000528499.1_Missense_Mutation_p.E589K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000345598.5_Missense_Mutation_p.E416K|APLP2_ENST00000338167.5_Missense_Mutation_p.E645K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000278756.7_Missense_Mutation_p.E655K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2			31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)			GGTCATTGACGAGACTCTGGA	0.502000																								0							SO:0001583	missense			ENST00000263574.5	1	1	hg19	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205480	0.79127	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94376	-3.37;-3.22;-1.68;-3.41;-1.89;-1.9;-1.88	6.17	6.17	0.99709	.	0.099482	0.64402	D	0.000003	D	0.94571	0.8251	L	0.29908	0.895	0.80722	D	1	D;D;P;P;D;D;P	0.89917	0.998;0.969;0.932;0.803;0.972;1.0;0.789	P;B;B;B;B;D;B	0.79108	0.805;0.225;0.263;0.268;0.31;0.992;0.128	D	0.93070	0.6482	9	.	.	.	-36.2148	19.8676	0.96824	0.0:0.0:1.0:0.0	.	445;657;601;416;583;589;645	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	K	589;445;657;416;645;655;552	ENSP00000435914:E589K;ENSP00000443728:E445K;ENSP00000263574:E657K;ENSP00000263575:E416K;ENSP00000345444:E645K;ENSP00000278756:E655K;ENSP00000444122:E552K	.	E	+	1	0	APLP2	129516612	1.000000	0.71417	0.980000	0.43619	0.833000	0.47200	9.230000	0.95299	2.941000	0.99782	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	1	0	1	36	192	0	48	1	1	625	1382	0	48	2		0	0	0	0	0	2	1	1	35	189	0	48	2								-2.771238	1	1	121412	1	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
ST14	6768	broad.mit.edu	37	11	130067743	130067743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130067743G>A	ENST00000278742.5	+	12	1780	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)			32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		Urokinase(DB00013)	CAGCATGCCCGGGGCAGTTCA	0.706000																								0							SO:0001819	synonymous_variant			ENST00000278742.5	1	1	hg19	CCDS8487.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1	1	0	1	10	41	0	14	1	1	260	459	0	14	2		0	0	0	0	0	2	1	9.978505e-01	10	41	0	14	2								-19.513640	1	1	120038	6	27	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998277	0.990000	1	9.900000e-01	1
ST14	6768	broad.mit.edu	37	11	130068436	130068436	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130068436G>T	ENST00000278742.5	+	14	2022	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)			32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		Urokinase(DB00013)	TGTTCCAATGGGAAGTGCCTC	0.672000																								0							SO:0001583	missense			ENST00000278742.5	0	1	hg19	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907464	0.52333	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.49432	0.78	4.73	4.73	0.59995	.	0.000000	0.38959	N	0.001509	T	0.79155	0.4398	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85912	0.1441	10	0.48119	T	0.1	.	17.3042	0.87190	0.0:0.0:1.0:0.0	.	535	Q9Y5Y6	ST14_HUMAN	V	535;437	ENSP00000278742:G535V	ENSP00000278742:G535V	G	+	2	0	ST14	129573646	1.000000	0.71417	0.970000	0.41538	0.169000	0.22640	4.692000	0.61746	2.158000	0.67659	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1	0	0	0	9	302	0	46	1	9.999959e-01	68	943	0	46	2		0	0	0	0	0	2	1	9.941423e-01	9	299	0	46	2								-3.655445	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.360000	0.170000	1.000000	0.330000	0.395563	0.360000	0	2.500000e-01	5.100000e-01
ZBTB44	29068	broad.mit.edu	37	11	130106855	130106855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130106855G>A	ENST00000357899.4	-	5	1673	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZBTB44_ENST00000397753.1_Silent_p.F467F|ZBTB44_ENST00000525842.1_Intron|ZBTB44_ENST00000530205.1_Intron			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44			15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			TATATTCCCCGAAGGAAGTGA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000357899.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.352	1.065764	0.20067	.	.	ENSG00000196323	ENST00000527478	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.75606	0.3872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73313	-0.4022	4	.	.	.	.	19.6651	0.95890	0.0:0.0:1.0:0.0	.	.	.	.	W	446	.	.	R	-	1	2	ZBTB44	129612065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.722000	0.93159	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	0	0	0	33	108	0	31	1	9.999492e-01	15	39	0	31	2		0	0	0	0	0	2	1	1	32	103	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB44	29068	broad.mit.edu	37	11	130108397	130108397	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130108397G>T	ENST00000357899.4	-	4	1481	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	ZBTB44_ENST00000397753.1_Silent_p.T403T|ZBTB44_ENST00000525842.1_Silent_p.T403T|ZBTB44_ENST00000530205.1_Silent_p.T403T			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44			15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			GCACCCCGCAGGTTGGACACT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000357899.4	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.01|10.01	1.233430|1.233430	0.22626|0.22626	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982	.|.	.|.	.|.	6.16|6.16	1.76|1.76	0.24704|0.24704	.|.	.|.	.|.	.|.	.|.	T|T	0.43787|0.43787	0.1263|0.1263	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20974|0.20974	-1.0259|-1.0259	4|4	.|.	.|.	.|.	.|.	2.5208|2.5208	0.04679|0.04679	0.2089:0.271:0.3867:0.1334|0.2089:0.271:0.3867:0.1334	.|.	.|.	.|.	.|.	M|H	382|257	.|.	.|.	L|P	-|-	1|2	2|0	ZBTB44|ZBTB44	129613607|129613607	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	0.461000|0.461000	0.21940|0.21940	0.083000|0.083000	0.17047|0.17047	0.650000|0.650000	0.86243|0.86243	CTG|CCT		TCGA-IB-7651-01A-11D-2154-08	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	1	0	1	13	59	0	22	1	9.999620e-01	30	65	0	22	2		0	0	0	0	0	2	1	9.995654e-01	12	56	0	21	2								-19.999800	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999102	0.990000	1	9.900000e-01	1
ADAMTS8	11095	broad.mit.edu	37	11	130275525	130275525	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130275525G>T	ENST00000257359.6	-	9	3304	c.2598C>A	c.(2596-2598)gcC>gcA	p.A866A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8			10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			AGGTGGCAGAGGCCTGGCCGG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000257359.6	1	1	hg19	CCDS41732.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	1	0	1	111	419	0	80	1	5.259060e-01	2	6	0	80	2		0	0	0	0	0	2	1	1	110	415	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS8	11095	broad.mit.edu	37	11	130281332	130281332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130281332G>A	ENST00000257359.6	-	6	2436	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	p.T577M(1)|p.T606M(1)		10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			GCATTCCTCCGTGTGGCATGA	0.567000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000257359.6	1	1	hg19	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470947	0.63625	2.51E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.05649	3.41	5.58	4.67	0.58626	.	0.093473	0.64402	D	0.000001	T	0.25901	0.0631	M	0.86097	2.795	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.72982	0.979;0.973	T	0.01879	-1.1255	10	0.66056	D	0.02	.	10.8882	0.46978	0.1444:0.0:0.8556:0.0	.	577;58	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	577;606	ENSP00000257359:T577M	ENSP00000257359:T577M	T	-	2	0	ADAMTS8	129786542	1.000000	0.71417	0.917000	0.36280	0.651000	0.38670	3.050000	0.49877	1.502000	0.48669	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	1	0	1	36	321	0	75	0	8.717333e-02	0	5	0	75	2		0	0	0	0	0	2	1	1	35	314	0	74	2								-3.318794	1	1	120916	6	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.850000	1.000000	1.000000	0.989271	0.990000	1	9.900000e-01	1
ADAMTS8	11095	broad.mit.edu	37	11	130288972	130288972	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130288972G>A	ENST00000257359.6	-	2	1642	c.936C>T	c.(934-936)gaC>gaT	p.D312D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8			10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			GGATGGCCGTGTCGTAGTGCT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000257359.6	1	1	hg19	CCDS41732.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	1	0	1	195	780	0	164	0	4.246869e-01	0	7	0	164	2		0	0	0	0	0	2	1	1	190	770	0	162	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX19	399979	broad.mit.edu	37	11	130748391	130748391	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130748391C>T	ENST00000265909.4	-	11	3474	c.2905G>A	c.(2905-2907)Gtt>Att	p.V969I	SNX19_ENST00000426933.2_Missense_Mutation_p.V137I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19			35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)			GACTCCTCAACAGAGGCACTG	0.498000																								0							SO:0001583	missense			ENST00000265909.4	1	1	hg19	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323966	0.24080	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.32753	2.9;1.51;1.51;1.44;1.94;1.94;2.27	5.8	3.82	0.43975	.	0.919810	0.09182	N	0.837227	T	0.21468	0.0517	L	0.44542	1.39	0.09310	N	1	B;B	0.23249	0.082;0.049	B;B	0.18561	0.022;0.016	T	0.33471	-0.9867	10	0.13108	T	0.6	-0.3614	3.2157	0.06697	0.1693:0.4034:0.3277:0.0996	.	412;969	F5H5D1;Q92543	.;SNX19_HUMAN	I	969;209;209;137;349;349;412	ENSP00000265909:V969I;ENSP00000433699:V209I;ENSP00000437982:V209I;ENSP00000413345:V137I;ENSP00000435122:V349I;ENSP00000432307:V349I;ENSP00000443480:V412I	ENSP00000265909:V969I	V	-	1	0	SNX19	130253601	0.000000	0.05858	0.066000	0.19879	0.818000	0.46254	-0.194000	0.09559	1.440000	0.47531	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	1	0	0	20	391	0	96	0	9.905288e-01	1	146	0	96	2		0	0	0	0	0	2	1	9.999949e-01	20	385	0	95	2								-5.168288	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.580000	0.360000	1.000000	0.570000	0.609089	0.580000	0	4.600000e-01	7.400000e-01
SNX19	399979	broad.mit.edu	37	11	130784879	130784879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130784879G>A	ENST00000265909.4	-	1	1525	c.956C>T	c.(955-957)cCa>cTa	p.P319L	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P319L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19			35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)			AGAACCCTCTGGCTCACTGTA	0.522000																								0							SO:0001583	missense			ENST00000265909.4	0	1	hg19	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	7.140	0.581622	0.13686	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.18657	2.2;2.2	5.21	3.28	0.37604	.	1.460470	0.04065	N	0.306961	T	0.15349	0.0370	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.26935	0.001;0.164	B;B	0.22601	0.002;0.04	T	0.31081	-0.9956	10	0.15066	T	0.55	-0.3415	6.9849	0.24723	0.0947:0.1756:0.7298:0.0	.	319;319	E9PKB9;Q92543	.;SNX19_HUMAN	L	319	ENSP00000265909:P319L;ENSP00000435390:P319L	ENSP00000265909:P319L	P	-	2	0	SNX19	130290089	0.001000	0.12720	0.001000	0.08648	0.374000	0.29953	0.270000	0.18607	0.560000	0.29169	0.644000	0.83932	CCA		TCGA-IB-7651-01A-11D-2154-08	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	0	0	0	13	491	0	101	0	4.255123e-01	0	52	0	101	2		0	0	0	0	0	2	1	9.994922e-01	14	482	0	100	2								-3.162719	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.310000	0.170000	1.000000	0.300000	0.349485	0.310000	0	2.300000e-01	4.200000e-01
SNX19	399979	broad.mit.edu	37	11	130785193	130785193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130785193G>A	ENST00000265909.4	-	1	1211	c.642C>T	c.(640-642)ggC>ggT	p.G214G	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.G214G	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19			35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)			AATTCACAACGCCACGCGTAT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000265909.4	1	1	hg19	CCDS31721.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	1	0	1	43	187	0	34	1	9.995629e-01	14	40	0	34	2		0	0	0	0	0	2	1	1	41	181	0	33	2								-20.000000	1	1	121408	1	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTM	50863	broad.mit.edu	37	11	131781469	131781469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:131781469C>T	ENST00000374786.1	+	1	573	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	NTM_ENST00000539799.1_Missense_Mutation_p.R32C|NTM_ENST00000425719.2_Missense_Mutation_p.R32C|NTM_ENST00000374784.1_Missense_Mutation_p.R32C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C|NTM_ENST00000427481.2_Missense_Mutation_p.R23C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin			56					AGTGCCCGTGCGCAGCGGAGA	0.617000											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000374786.1	0	1	hg19	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695433	0.88830	.	.	ENSG00000182667	ENST00000374791;ENST00000436745;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.60672	0.18;0.18;0.19;0.17;0.23;0.2;0.18	5.28	5.28	0.74379	.	0.069171	0.53938	D	0.000044	T	0.70842	0.3270	M	0.71581	2.175	0.58432	D	0.999996	D;P;D;B;D;D	0.69078	0.98;0.918;0.997;0.078;0.98;0.98	P;P;P;B;P;P	0.54924	0.462;0.462;0.761;0.038;0.764;0.764	T	0.74278	-0.3717	10	0.59425	D	0.04	-13.7454	18.896	0.92423	0.0:1.0:0.0:0.0	.	32;23;32;32;32;32	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	C	32;23;32;23;23;32;32;32	ENSP00000363923:R32C;ENSP00000437668:R32C;ENSP00000448104:R23C;ENSP00000416320:R23C;ENSP00000363918:R32C;ENSP00000396722:R32C;ENSP00000363916:R32C	ENSP00000363916:R32C	R	+	1	0	NTM	131286679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.787000	0.47798	2.479000	0.83701	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	0	0	0	23	494	0	79	0	9.898266e-01	0	158	0	79	2		0	0	0	0	0	2	1	9.999992e-01	22	486	0	113	2								-19.997870	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.530000	0.340000	1.000000	0.520000	0.558731	0.530000	0	4.300000e-01	6.700000e-01
NTM	50863	broad.mit.edu	37	11	132016258	132016258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132016258C>A	ENST00000374786.1	+	2	729	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	NTM_ENST00000539799.1_Missense_Mutation_p.L84M|NTM_ENST00000425719.2_Missense_Mutation_p.L84M|NTM_ENST00000374784.1_Missense_Mutation_p.L84M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M|NTM_ENST00000427481.2_Missense_Mutation_p.L75M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin			56					CAAGTGGTGCCTGGATCCTCG	0.572000																								0							SO:0001583	missense			ENST00000374786.1	0	1	hg19	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850630	0.71719	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075430	0.56097	D	0.000033	T	0.45377	0.1339	L	0.55213	1.73	0.51767	D	0.999936	D;P;P;P;P;P	0.56968	0.978;0.956;0.599;0.915;0.823;0.752	D;D;P;D;P;P	0.67382	0.951;0.913;0.8;0.913;0.805;0.8	T	0.31420	-0.9944	10	0.42905	T	0.14	-12.2888	8.5217	0.33279	0.1541:0.7641:0.0:0.0818	.	84;75;84;84;84;84	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	84;84;75;75;84;84;84	ENSP00000363923:L84M;ENSP00000437668:L84M;ENSP00000448104:L75M;ENSP00000416320:L75M;ENSP00000363918:L84M;ENSP00000396722:L84M;ENSP00000363916:L84M	ENSP00000363916:L84M	L	+	1	2	NTM	131521468	0.257000	0.24022	1.000000	0.80357	0.999000	0.98932	0.348000	0.20031	2.691000	0.91804	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	0	0	0	7	354	0	82	0	8.969109e-01	1	205	0	82	2		0	0	0	0	0	2	1	9.794623e-01	7	347	0	81	2								-6.917829	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.240000	0.100000	1.000000	0.230000	0.285170	0.240000	0	1.600000e-01	3.600000e-01
NTM	50863	broad.mit.edu	37	11	132082001	132082001	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132082001A>G	ENST00000374786.1	+	3	965	c.486A>G	c.(484-486)agA>agG	p.R162R	NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.R162R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000427481.2_Silent_p.R153R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin			56					CAACTGGTAGACCAGAGCCTA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000374786.1	1	1	hg19	CCDS8491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	0	0	0	8	339	0	86	0	9.758468e-01	0	278	0	86	2		0	0	0	0	0	2	1	9.888021e-01	8	333	0	86	2								-3.161458	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.280000	0.130000	1.000000	0.270000	0.327071	0.280000	0	2.000000e-01	4.200000e-01
NTM	50863	broad.mit.edu	37	11	132177654	132177654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132177654G>A	ENST00000374786.1	+	4	1077	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.E200K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000427481.2_Missense_Mutation_p.E191K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin			56					AGGGGACTACGAGTGCAGTGC	0.567000																								0							SO:0001583	missense			ENST00000374786.1	1	1	hg19	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	37	6.109459	0.97291	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67345	1.68;1.68;-0.26;1.68;1.68;1.68;1.68	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042817	0.85682	D	0.000000	T	0.80793	0.4691	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.987;0.999;0.993;0.999;0.987;0.995	T	0.74200	-0.3742	10	0.22109	T	0.4	-30.012	20.3754	0.98918	0.0:0.0:1.0:0.0	.	200;191;200;200;200;200	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	200;200;191;191;200;200;200	ENSP00000363923:E200K;ENSP00000437668:E200K;ENSP00000448104:E191K;ENSP00000416320:E191K;ENSP00000363918:E200K;ENSP00000396722:E200K;ENSP00000363916:E200K	ENSP00000363916:E200K	E	+	1	0	NTM	131682864	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	9.420000	0.97426	2.894000	0.99253	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	1	0	1	52	218	0	40	0	1	0	293	0	40	2		0	0	0	0	0	2	1	1	51	215	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPCML	4978	broad.mit.edu	37	11	132812820	132812820	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812820C>T	ENST00000331898.7	-	1	746		c.e1+1		OPCML_ENST00000524381.1_Splice_Site|OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like			47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)			CAGCTCCCTACCTGAGGGTGG	0.682000																								0							SO:0001630	splice_region_variant			ENST00000331898.7	1	1	hg19	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659011	0.88154	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPCML	132318030	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.398000	0.79919	2.707000	0.92482	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	1	0	1	66	392	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	63	384	0	82	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPCML	4978	broad.mit.edu	37	11	132812857	132812857	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812857T>C	ENST00000331898.7	-	1	709	c.131A>G	c.(130-132)aAc>aGc	p.N44S	OPCML_ENST00000524381.1_Missense_Mutation_p.N37S|OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like			47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)			GACCGTCACGTTGTCCATAGC	0.662000																								0							SO:0001583	missense			ENST00000331898.7	1	1	hg19	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887404	0.72410	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134612	0.47852	D	0.000218	T	0.37785	0.1016	L	0.54863	1.705	0.50632	D	0.999888	P;B;B;P	0.35656	0.514;0.267;0.267;0.502	P;P;P;P	0.46275	0.491;0.491;0.491;0.51	T	0.12682	-1.0538	10	0.49607	T	0.09	-20.4728	15.7888	0.78332	0.0:0.0:0.0:1.0	.	44;37;44;44	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	S	44;37;3;37;44	ENSP00000330862:N44S;ENSP00000434750:N37S;ENSP00000363910:N3S;ENSP00000445496:N44S	ENSP00000330862:N44S	N	-	2	0	OPCML	132318067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.140000	0.66376	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	1	0	0	85	440	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	83	433	0	109	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARNTL	406	broad.mit.edu	37	11	13378325	13378325	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13378325G>A	ENST00000403290.1	+	6	534		c.e6+1		ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000389708.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like			20					CTCATGGAAGGTACCATGAAC	0.398000																								0							SO:0001630	splice_region_variant			ENST00000403290.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.6	4.010702	0.75046	.	.	ENSG00000133794	ENST00000527998;ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.237	0.87001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARNTL	13334901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.679000	0.91253	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	1	0	1	56	230	0	42	1	1.786722e-01	3	1	0	42	2		0	0	0	0	0	2	1	1	55	227	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF9B	22997	broad.mit.edu	37	11	133790142	133790142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790142C>T	ENST00000321016.8	-	18	3708	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1160S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			GTGCTGGGGCCGCCGTGCGCC	0.687000																								0							SO:0001583	missense			ENST00000321016.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.56	1.975668	0.34848	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.63417	0.3;-0.04	5.08	5.08	0.68730	.	0.000000	0.45606	D	0.000349	T	0.40862	0.1134	N	0.04508	-0.205	0.44323	D	0.997206	B	0.28082	0.2	B	0.20184	0.028	T	0.32348	-0.9910	10	0.28530	T	0.3	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	1160	Q9UPX0	TUTLB_HUMAN	S	1160;1002	ENSP00000317980:G1160S;ENSP00000436552:G1002S	ENSP00000317980:G1160S	G	-	1	0	IGSF9B	133295352	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.422000	0.59854	2.358000	0.79984	0.455000	0.32223	GGC		TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0	88	371	0	69	1	2.490639e-01	3	2	0	69	2		0	0	0	0	0	2	1	1	86	368	0	68	2								-3.405817	1	1	119064	1	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF9B	22997	broad.mit.edu	37	11	133790553	133790553	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790553T>G	ENST00000321016.8	-	18	3297	c.3067A>C	c.(3067-3069)Agc>Cgc	p.S1023R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1023R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			GGCAGCGTGCTGTTGGATGCA	0.672000																								0							SO:0001583	missense			ENST00000321016.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	t	12.19	1.863010	0.32884	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.16;-0.18	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000060	T	0.63534	0.2519	N	0.14661	0.345	0.35023	D	0.758053	D	0.65815	0.995	D	0.70487	0.969	T	0.72798	-0.4184	10	0.40728	T	0.16	.	14.2931	0.66292	0.0:0.0:0.0:1.0	.	1023	Q9UPX0	TUTLB_HUMAN	R	1023;865	ENSP00000317980:S1023R;ENSP00000436552:S865R	ENSP00000317980:S1023R	S	-	1	0	IGSF9B	133295763	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.600000	0.82769	1.855000	0.53841	0.449000	0.29647	AGC		TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	101	416	0	71	1	3.361555e-01	3	3	0	71	2		0	0	0	0	0	2	1	1	100	409	0	70	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF9B	22997	broad.mit.edu	37	11	133790610	133790610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790610C>T	ENST00000321016.8	-	18	3240	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E1004K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			AAGGGCCCCTCGGTGGGCAGG	0.677000																								0							SO:0001583	missense			ENST00000321016.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	25.2	4.611619	0.87258	0.0	1.2E-4	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.74526	-0.55;-0.85	4.93	4.93	0.64822	.	0.000000	0.45126	D	0.000395	T	0.65396	0.2687	L	0.27053	0.805	0.42717	D	0.993663	D	0.56968	0.978	B	0.41894	0.369	T	0.72360	-0.4317	10	0.59425	D	0.04	.	17.7942	0.88565	0.0:1.0:0.0:0.0	.	1004	Q9UPX0	TUTLB_HUMAN	K	1004;846	ENSP00000317980:E1004K;ENSP00000436552:E846K	ENSP00000317980:E1004K	E	-	1	0	IGSF9B	133295820	1.000000	0.71417	0.930000	0.37139	0.951000	0.60555	7.350000	0.79385	2.286000	0.76751	0.550000	0.68814	GAG		TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	61	272	0	59	1	7.559345e-01	6	8	0	59	2		0	0	0	0	0	2	1	1	59	268	0	59	2								-2.958716	1	0	120954	2	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF9B	22997	broad.mit.edu	37	11	133790821	133790821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790821C>A	ENST00000321016.8	-	18	3029	c.2799G>T	c.(2797-2799)caG>caT	p.Q933H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.Q933H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			GCCCGCGGGGCTGGAACCGAG	0.697000																								0							SO:0001583	missense			ENST00000321016.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.43	1.348126	0.24426	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66280	0.13;-0.2	4.44	3.52	0.40303	.	0.000000	0.42420	D	0.000714	T	0.40322	0.1112	N	0.17082	0.46	0.36966	D	0.893595	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.27785	T	0.31	.	6.611	0.22751	0.0:0.7898:0.0:0.2102	.	933	Q9UPX0	TUTLB_HUMAN	H	933;775	ENSP00000317980:Q933H;ENSP00000436552:Q775H	ENSP00000317980:Q933H	Q	-	3	2	IGSF9B	133296031	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.509000	0.53386	1.081000	0.41110	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0	80	272	0	56	1	3.214704e-01	4	1	0	56	2		0	0	0	0	0	2	1	1	78	268	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF9B	22997	broad.mit.edu	37	11	133791235	133791235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133791235T>G	ENST00000321016.8	-	18	2615	c.2385A>C	c.(2383-2385)gaA>gaC	p.E795D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E795D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			CGTCGGAGGATTCTGACGGCG	0.657000																								0							SO:0001583	missense			ENST00000321016.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	8.165	0.790320	0.16258	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.15;-0.18	4.47	-0.231	0.13086	.	0.000000	0.44902	D	0.000401	T	0.47637	0.1456	L	0.36672	1.1	0.30701	N	0.750329	D	0.56521	0.976	P	0.45232	0.474	T	0.54118	-0.8341	10	0.21540	T	0.41	.	9.1134	0.36741	0.0:0.54:0.0:0.46	.	795	Q9UPX0	TUTLB_HUMAN	D	795;637	ENSP00000317980:E795D;ENSP00000436552:E637D	ENSP00000317980:E795D	E	-	3	2	IGSF9B	133296445	0.984000	0.35163	0.976000	0.42696	0.158000	0.22134	0.228000	0.17814	0.131000	0.18576	-0.337000	0.08149	GAA		TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	41	126	0	18	1	8.612261e-01	4	9	0	18	2		0	0	0	0	0	2	1	1	40	125	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF9B	22997	broad.mit.edu	37	11	133795814	133795814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133795814C>T	ENST00000321016.8	-	14	2084	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	IGSF9B_ENST00000533871.2_Silent_p.P618P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			TGAGGCACCTCGGTGGGGTGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000321016.8	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	13	79	0	15	1	7.191086e-01	8	9	0	15	2		0	0	0	0	0	2	1	9.995846e-01	13	76	0	15	2								-19.992950	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.930000	1.000000	1.000000	0.995603	0.990000	1	9.900000e-01	1
IGSF9B	22997	broad.mit.edu	37	11	133801989	133801989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133801989C>T	ENST00000321016.8	-	8	1317	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G363S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			AGGGGACGGCCGTCCTTGTTC	0.607000																								0							SO:0001583	missense			ENST00000321016.8	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.279030	0.95489	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	D;D;D	0.81821	-1.54;-1.54;-1.54	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91064	0.7188	M	0.86864	2.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92249	0.5807	9	0.62326	D	0.03	.	18.2442	0.89979	0.0:1.0:0.0:0.0	.	363	Q9UPX0	TUTLB_HUMAN	S	363;205;363	ENSP00000317980:G363S;ENSP00000436552:G205S;ENSP00000436576:G363S	ENSP00000317980:G363S	G	-	1	0	IGSF9B	133307199	1.000000	0.71417	0.985000	0.45067	0.654000	0.38779	7.648000	0.83479	2.535000	0.85469	0.556000	0.70494	GGC		TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	5	164	0	38	0	6.969864e-02	0	12	0	38	2		0	0	0	0	0	2	1	9.344931e-01	5	160	0	38	2								-7.098041	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.380000	0.140000	1.000000	0.340000	0.425427	0.380000	0	2.400000e-01	5.900000e-01
IGSF9B	22997	broad.mit.edu	37	11	133814213	133814213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133814213C>T	ENST00000321016.8	-	3	541	c.311G>A	c.(310-312)cGc>cAc	p.R104H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			GTCCTCAGAGCGAACTTGTTC	0.562000																								0							SO:0001583	missense			ENST00000321016.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	32	5.131947	0.94473	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.83008	0.5161	M	0.79258	2.445	0.58432	D	0.999997	D	0.76494	0.999	D	0.73380	0.98	D	0.84370	0.0543	10	0.87932	D	0	.	19.8208	0.96592	0.0:1.0:0.0:0.0	.	104	Q9UPX0	TUTLB_HUMAN	H	104;104;94;151	ENSP00000317980:R104H;ENSP00000436576:R104H;ENSP00000434026:R94H;ENSP00000435989:R151H	ENSP00000317980:R104H	R	-	2	0	IGSF9B	133319423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.819000	0.62664	2.688000	0.91661	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	24	149	0	40	1	5.218304e-01	5	7	0	40	2		0	0	0	0	0	2	1	9.999996e-01	23	141	0	39	2								-20.000000	1	1	120982	1	20	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999338	0.990000	1	9.900000e-01	1
IGSF9B	22997	broad.mit.edu	37	11	133815997	133815997	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133815997T>G	ENST00000321016.8	-	2	451	c.221A>C	c.(220-222)aAg>aCg	p.K74T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.K74T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			GTAGCCAAACTTGATGAAGAT	0.617000																								0							SO:0001583	missense			ENST00000321016.8	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	28.1	4.886483	0.91814	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.073665	0.51477	D	0.000096	T	0.65133	0.2662	L	0.28458	0.855	0.42028	D	0.991012	P	0.43662	0.814	P	0.55508	0.777	T	0.62506	-0.6840	10	0.28530	T	0.3	.	15.5994	0.76613	0.0:0.0:0.0:1.0	.	74	Q9UPX0	TUTLB_HUMAN	T	74;74;64;121	ENSP00000317980:K74T;ENSP00000436576:K74T;ENSP00000434026:K64T;ENSP00000435989:K121T	ENSP00000317980:K74T	K	-	2	0	IGSF9B	133321207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.938000	0.87678	2.175000	0.68902	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	7	64	0	16	0	2.608542e-01	1	8	0	16	2		0	0	0	0	0	2	1	9.805249e-01	7	62	0	16	2								-12.953520	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.540000	1.000000	1.000000	0.934361	0.990000	1	8.100000e-01	1
NCAPD3	23310	broad.mit.edu	37	11	134037948	134037948	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134037948A>C	ENST00000534548.2	-	27	3580	c.3516T>G	c.(3514-3516)gaT>gaG	p.D1172E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3			71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			AGGCCATGTCATCTTCTTCCA	0.453000																								0							SO:0001583	missense			ENST00000534548.2	1	1	hg19	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	a	13.31	2.197632	0.38806	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.66280	-0.2;-0.2;-0.2	5.5	-2.34	0.06704	Armadillo-type fold (1);	0.284386	0.43260	N	0.000584	T	0.40522	0.1120	L	0.32530	0.975	0.80722	D	1	B;B	0.21688	0.032;0.059	B;B	0.19666	0.026;0.017	T	0.08576	-1.0715	10	0.15952	T	0.53	-12.4742	6.7877	0.23682	0.5433:0.1244:0.3322:0.0	.	1172;232	P42695;Q96FA6	CNDD3_HUMAN;.	E	1172;77;208	ENSP00000433681:D1172E;ENSP00000432532:D77E;ENSP00000435173:D208E	ENSP00000432532:D77E	D	-	3	2	NCAPD3	133543158	0.988000	0.35896	0.856000	0.33681	0.856000	0.48823	0.370000	0.20433	-0.722000	0.04922	0.473000	0.43528	GAT		TCGA-IB-7651-01A-11D-2154-08	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1	118	551	0	115	1	9.989246e-01	11	38	0	115	2		0	0	0	0	0	2	1	1	116	543	0	114	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPD3	23310	broad.mit.edu	37	11	134055268	134055268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134055268G>A	ENST00000534548.2	-	17	2263	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3			71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			TTCTGCTGTAGTCCAGCCTGG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000534548.2	1	1	hg19	CCDS31723.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1	43	132	0	36	1	9.990151e-01	8	28	0	36	2		0	0	0	0	0	2	1	1	41	131	0	36	2								-20.000000	1	0	121408	1	31	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPD3	23310	broad.mit.edu	37	11	134073691	134073691	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134073691C>T	ENST00000534548.2	-	11	1390	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3			71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			GCACCAGGAACTTATGCTTTA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000534548.2	1	1	hg19	CCDS31723.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1	90	363	0	86	1	8.546683e-01	5	11	0	86	2		0	0	0	0	0	2	1	1	88	355	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPD3	23310	broad.mit.edu	37	11	134074865	134074865	+	Splice_Site	SNP	C	C	T	rs112640641		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134074865C>T	ENST00000534548.2	-	9	1082	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3			71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			TCCACAAGGGCGCTTTGTAAA	0.383000																								0							SO:0001630	splice_region_variant			ENST00000534548.2	1	0	hg19	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329475	0.24167	.	.	ENSG00000151503	ENST00000534548	T	0.04706	3.57	5.54	3.17	0.36434	Armadillo-type fold (1);	0.659510	0.16079	N	0.230607	T	0.03011	0.0089	N	0.08118	0	0.31644	N	0.647619	B	0.19445	0.036	B	0.11329	0.006	T	0.29640	-1.0005	10	0.22706	T	0.39	-1.2962	12.446	0.55651	0.7319:0.268:0.0:0.0	.	340	P42695	CNDD3_HUMAN	T	340	ENSP00000433681:A340T	ENSP00000431612:A340T	A	-	1	0	NCAPD3	133580075	0.978000	0.34361	0.053000	0.19242	0.026000	0.11368	2.460000	0.45031	0.366000	0.24427	-0.364000	0.07487	GCC		TCGA-IB-7651-01A-11D-2154-08	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1	56	308	0	73	1	9.315112e-01	4	23	0	73	2		0	0	0	0	0	2	1	1	55	301	0	73	2								-20.000000	1	1	121412	2	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPD3	23310	broad.mit.edu	37	11	134076509	134076509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134076509G>A	ENST00000534548.2	-	8	1065	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3			71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			AAACTGGACCGCCTGGTTTCT	0.458000																								0							SO:0001583	missense			ENST00000534548.2	1	1	hg19	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704144	0.88924	.	.	ENSG00000151503	ENST00000534548	T	0.09163	3.01	5.67	5.67	0.87782	Armadillo-type fold (1);	0.098779	0.64402	D	0.000001	T	0.34571	0.0902	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.00569	-1.1666	10	0.48119	T	0.1	-20.4282	20.1313	0.98000	0.0:0.0:1.0:0.0	.	334	P42695	CNDD3_HUMAN	V	334	ENSP00000433681:A334V	ENSP00000431612:A334V	A	-	2	0	NCAPD3	133581719	0.999000	0.42202	0.721000	0.30653	0.749000	0.42624	5.099000	0.64554	2.837000	0.97791	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1	97	407	0	106	1	9.963991e-01	13	25	0	106	2		0	0	0	0	0	2	1	1	95	394	1	104	17								-3.410333	1	1	121412	8	41	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPD3	23310	broad.mit.edu	37	11	134079098	134079098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134079098G>A	ENST00000534548.2	-	6	799	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3			71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			ATGAAACAAAGACCTAGAAAA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000534548.2	1	1	hg19	CCDS31723.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	1	0	1	145	652	0	146	1	8.411316e-01	4	13	0	146	2		0	0	0	0	0	2	1	1	144	647	0	145	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS26B	112936	broad.mit.edu	37	11	134109963	134109963	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134109963C>A	ENST00000281187.5	+	3	937	c.459C>A	c.(457-459)agC>agA	p.S153R	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)			14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			ACACACTCAGCACATACCCAG	0.453000													Colon(171;1263 1952 15904 45703 47982)											0							SO:0001583	missense			ENST00000281187.5	1	1	hg19	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494802	0.44352	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	T	0.06528	3.29	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.60012	1.86	0.80722	D	1	P	0.51449	0.945	P	0.57548	0.823	T	0.03597	-1.1021	10	0.17832	T	0.49	-4.0493	19.3065	0.94164	0.0:1.0:0.0:0.0	.	153	Q4G0F5	VP26B_HUMAN	R	153;152	ENSP00000281187:S153R	ENSP00000281187:S153R	S	+	3	2	VPS26B	133615173	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.031000	0.57267	2.570000	0.86706	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	1	0	1	67	322	0	72	1	1	37	137	0	72	2		0	0	0	0	0	2	1	1	65	312	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS26B	112936	broad.mit.edu	37	11	134113076	134113076	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134113076G>A	ENST00000281187.5	+	4	1087	c.609G>A	c.(607-609)aaG>aaA	p.K203K	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.K203K	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)			14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			TCAAAATCAAGCACATGGAGA	0.453000													Colon(171;1263 1952 15904 45703 47982)											0							SO:0001819	synonymous_variant			ENST00000281187.5	1	1	hg19	CCDS8495.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	1	0	1	51	305	0	59	1	1	41	186	0	59	2		0	0	0	0	0	2	1	1	51	301	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
VPS26B	112936	broad.mit.edu	37	11	134115478	134115478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134115478G>A	ENST00000281187.5	+	6	1483	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	VPS26B_ENST00000525095.2_Silent_p.R335R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)			14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			ACAACTGCAGGCAGTAGGCCC	0.682000													Colon(171;1263 1952 15904 45703 47982)											0							SO:0001819	synonymous_variant			ENST00000281187.5	0	1	hg19	CCDS8495.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	0	0	0	15	105	1	19	1	3.336997e-01	20	71	1	19	14		0	0	0	0	0	2	1	9.999022e-01	15	104	0	19	2								-19.999960	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.870000	1.000000	1.000000	0.992726	0.990000	1	9.900000e-01	1
ACAD8	27034	broad.mit.edu	37	11	134123498	134123498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134123498C>T	ENST00000281182.4	+	1	110	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	ACAD8_ENST00000537423.1_5'UTR|THYN1_ENST00000352327.5_5'Flank|THYN1_ENST00000392595.2_5'Flank|ACAD8_ENST00000374752.4_Silent_p.L2L|THYN1_ENST00000392594.3_5'Flank|THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000341541.3_5'Flank|ACAD8_ENST00000543332.1_5'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8			14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Flavin adenine dinucleotide(DB03147)	GGCGGCTATGCTGTGGAGCGG	0.706000													GBM(65;238 1125 33403 41853 48889)											0							SO:0001819	synonymous_variant			ENST00000281182.4	0	1	hg19	CCDS8498.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	1	0	0	10	43	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.937448e-01	7	36	0	4	2								-19.611520	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.997944	0.990000	1	9.900000e-01	1
GLB1L3	112937	broad.mit.edu	37	11	134183877	134183877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134183877G>A	ENST00000431683.2	+	17	1622	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3			13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)			TCCCTGGAGGGCTTTACCATC	0.483000																								0							SO:0001583	missense			ENST00000431683.2	1	1	hg19	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	1.367	-0.587026	0.03827	.	.	ENSG00000166105	ENST00000431683	D	0.95069	-3.6	4.78	-5.28	0.02755	Galactose-binding domain-like (1);	1.474610	0.03748	N	0.256133	D	0.87892	0.6292	L	0.27975	0.815	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.78091	-0.2339	10	0.11485	T	0.65	.	9.6803	0.40065	0.7087:0.1231:0.1682:0.0	.	541	Q8NCI6	GLBL3_HUMAN	D	541	ENSP00000396615:G541D	ENSP00000396615:G541D	G	+	2	0	GLB1L3	133689087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.596000	0.05720	-0.990000	0.03481	-0.471000	0.05019	GGC		TCGA-IB-7651-01A-11D-2154-08	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	0	0	1	16	86	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999469e-01	16	83	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998983	0.990000	1	9.900000e-01	1
GLB1L2	89944	broad.mit.edu	37	11	134238539	134238539	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134238539G>T	ENST00000535456.2	+	10	1079	c.891G>T	c.(889-891)gaG>gaT	p.E297D	GLB1L2_ENST00000389881.3_Splice_Site_p.E297D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Splice_Site_p.E297D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2			41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)			CTCCGGCAGAGGTTTTGAAAA	0.542000																								0							SO:0001630	splice_region_variant			ENST00000535456.2	1	0	hg19	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.302|3.302	-0.142586|-0.142586	0.06669|0.06669	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	D;D;D|.	0.97752|.	-4.52;-4.52;-4.52|.	5.19|5.19	0.61|0.61	0.17580|0.17580	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.220925|.	0.46442|.	D|.	0.000296|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.05351|0.05351	-0.065|-0.065	0.32055|0.32055	N|N	0.596416|0.596416	B|.	0.11235|.	0.004|.	B|.	0.16289|.	0.015|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.17832|.	T|.	0.49|.	.|.	5.6384|5.6384	0.17550|0.17550	0.2586:0.0:0.5583:0.1832|0.2586:0.0:0.5583:0.1832	.|.	297|.	Q8IW92|.	GLBL2_HUMAN|.	D|C	297|236;125	ENSP00000344659:E297D;ENSP00000444628:E297D;ENSP00000374531:E297D|.	ENSP00000344659:E297D|.	E|G	+|+	3|1	2|0	GLB1L2|GLB1L2	133743749|133743749	0.304000|0.304000	0.24472|0.24472	0.910000|0.910000	0.35882|0.35882	0.196000|0.196000	0.23810|0.23810	-0.606000|-0.606000	0.05654|0.05654	0.187000|0.187000	0.20147|0.20147	0.655000|0.655000	0.94253|0.94253	GAG|GGT		TCGA-IB-7651-01A-11D-2154-08	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	1	0	0	34	408	0	78	1	9.572657e-01	12	52	0	78	2		0	0	0	0	0	2	1	1	33	398	0	76	2								-3.017764	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.910000	0.640000	1.000000	1.000000	0.895930	0.910000	1	7.700000e-01	1
GLB1L2	89944	broad.mit.edu	37	11	134244527	134244527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134244527G>A	ENST00000535456.2	+	18	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2			41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)			TTCATCAATGGCCAGAACCTT	0.547000																								0							SO:0001583	missense			ENST00000535456.2	1	1	hg19	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040103|4.040103	0.75732|0.75732	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.99507|.	-6.04;-6.04;-6.04|.	5.61|5.61	3.72|3.72	0.42706|0.42706	Galactose-binding domain-like (1);|.	0.164458|.	0.53938|.	N|.	0.000051|.	T|.	0.75064|.	0.3799|.	M|M	0.83774|0.83774	2.66|2.66	0.54753|0.54753	D|D	0.999988|0.999988	P|.	0.52842|.	0.956|.	P|.	0.56474|.	0.799|.	T|.	0.75648|.	-0.3245|.	10|.	0.66056|.	D|.	0.02|.	-6.4414|-6.4414	12.2901|12.2901	0.54812|0.54812	0.141:0.0:0.859:0.0|0.141:0.0:0.859:0.0	.|.	580|.	Q8IW92|.	GLBL2_HUMAN|.	D|X	580|518	ENSP00000344659:G580D;ENSP00000444628:G580D;ENSP00000374531:G580D|.	ENSP00000344659:G580D|.	G|W	+|+	2|3	0|0	GLB1L2|GLB1L2	133749737|133749737	1.000000|1.000000	0.71417|0.71417	0.133000|0.133000	0.22050|0.22050	0.995000|0.995000	0.86356|0.86356	4.583000|4.583000	0.60964|0.60964	0.705000|0.705000	0.31890|0.31890	0.655000|0.655000	0.94253|0.94253	GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	1	0	1	111	580	0	152	1	9.999943e-01	37	52	0	152	2		0	0	0	0	0	2	1	1	111	570	0	150	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTBD10	84280	broad.mit.edu	37	11	13438716	13438716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13438716G>A	ENST00000278174.5	-	5	921	c.676C>T	c.(676-678)Cga>Tga	p.R226*	BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*|BTBD10_ENST00000532261.1_5'Flank|BTBD10_ENST00000530907.1_Nonsense_Mutation_p.R234*	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10			20					AGAATCGCTCGAAACACAGTG	0.418000																								0							SO:0001587	stop_gained			ENST00000278174.5	0	1	hg19	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	40	7.961995	0.98583	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.662	19.8331	0.96643	0.0:0.0:1.0:0.0	.	.	.	.	X	226;234;178	.	ENSP00000278174:R226X	R	-	1	2	BTBD10	13395292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.607000	0.54102	2.779000	0.95612	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	1	0	1	132	557	0	153	1	1	6	134	0	153	2		0	0	0	0	0	2	1	1	125	550	0	151	2								-3.475413	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAR1	84188	broad.mit.edu	37	11	13743352	13743352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13743352G>T	ENST00000354817.3	+	10	1347	c.1203G>T	c.(1201-1203)tgG>tgT	p.W401C	FAR1_ENST00000532502.1_Missense_Mutation_p.W25C	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1			13					CTTGGGTTTGGAATACTGAGA	0.303000																								0							SO:0001583	missense			ENST00000354817.3	1	1	hg19	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422520	0.83559	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.21932	1.98	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54370	-0.8304	10	0.87932	D	0	-3.4024	19.5966	0.95541	0.0:0.0:1.0:0.0	.	401	Q8WVX9	FACR1_HUMAN	C	401;25	ENSP00000346874:W401C	ENSP00000346874:W401C	W	+	3	0	FAR1	13699928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	1	0	1	33	115	0	37	1	9.999999e-01	22	76	0	37	2		0	0	0	0	0	2	1	1	33	114	0	37	2								-19.998970	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COPB1	1315	broad.mit.edu	37	11	14502316	14502316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14502316C>T	ENST00000249923.3	-	10	1501	c.1201G>A	c.(1201-1203)Gtt>Att	p.V401I	COPB1_ENST00000439561.2_Missense_Mutation_p.V401I|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1			36					ACAGGAATAACATTTGCAGCC	0.323000																								0							SO:0001583	missense			ENST00000249923.3	1	1	hg19	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265476	0.59431	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.27402	1.67;1.67;1.67	5.22	5.22	0.72569	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	L	0.33137	0.985	0.80722	D	1	B	0.24368	0.102	B	0.37508	0.252	T	0.12837	-1.0532	10	0.39692	T	0.17	.	18.7787	0.91922	0.0:1.0:0.0:0.0	.	401	P53618	COPB_HUMAN	I	401	ENSP00000249923:V401I;ENSP00000397873:V401I;ENSP00000436383:V401I	ENSP00000249923:V401I	V	-	1	0	COPB1	14458892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.086000	0.71352	2.426000	0.82243	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	0	0	0	18	504	0	82	1	9.997272e-01	31	344	0	82	2		0	0	0	0	0	2	1	9.999791e-01	17	495	0	82	2								-3.957788	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.410000	0.250000	1.000000	0.410000	0.446349	0.410000	0	3.200000e-01	5.400000e-01
COPB1	1315	broad.mit.edu	37	11	14504589	14504589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14504589G>A	ENST00000249923.3	-	8	1246	c.946C>T	c.(946-948)Cga>Tga	p.R316*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1			36					TGTAGTACTCGTTCATGAGCA	0.333000																								0							SO:0001587	stop_gained			ENST00000249923.3	0	1	hg19	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	38	7.098576	0.98063	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	.	.	.	5.56	2.38	0.29361	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3051	0.66380	0.0:0.0:0.5008:0.4992	.	.	.	.	X	316	.	ENSP00000249923:R316X	R	-	1	2	COPB1	14461165	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	3.868000	0.56055	0.649000	0.30751	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	1	0	1	31	168	0	37	1	1	3	347	0	37	2		0	0	0	0	0	2	1	1	31	166	0	37	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
COPB1	1315	broad.mit.edu	37	11	14510081	14510081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14510081A>G	ENST00000249923.3	-	6	956	c.656T>C	c.(655-657)tTt>tCt	p.F219S	COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1			36					AATGTCTCCAAATGTTTGAAC	0.313000																								0							SO:0001583	missense			ENST00000249923.3	1	1	hg19	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532635	0.85812	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.24350	1.86;1.86;1.86	4.9	4.9	0.64082	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.60198	-0.7310	10	0.38643	T	0.18	.	14.817	0.70041	1.0:0.0:0.0:0.0	.	219	P53618	COPB_HUMAN	S	219	ENSP00000249923:F219S;ENSP00000397873:F219S;ENSP00000436383:F219S	ENSP00000249923:F219S	F	-	2	0	COPB1	14466657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	1.956000	0.56807	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	1	0	1	25	135	0	44	1	1	2	377	0	44	2		0	0	0	0	0	2	1	9.999999e-01	25	135	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999875	0.990000	1	9.900000e-01	1
PSMA1	5682	broad.mit.edu	37	11	14535242	14535242	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14535242T>C	ENST00000396394.2	-	7	814	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000530457.1_Missense_Mutation_p.M115V|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1			3					TGAGGGCCCATATCCTACAAA	0.328000																								0							SO:0001583	missense			ENST00000396394.2	1	1	hg19	CCDS7816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.444090|4.444090	0.83993|0.83993	.|.	.|.	ENSG00000129084|ENSG00000129084	ENST00000419365|ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T|T;T;T;T	0.46063|0.20881	0.88|2.04;2.04;2.04;2.04	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.17474|0.17474	0.49|0.49	0.31237|0.31237	N|N	0.695602|0.695602	.|B;B	.|0.11235	.|0.001;0.004	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.06844|0.06844	-1.0804|-1.0804	7|10	0.51188|0.27082	T|T	0.08|0.32	-11.1186|-11.1186	16.4696|16.4696	0.84102|0.84102	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|146;140	.|P25786-2;P25786	.|.;PSA1_HUMAN	M|V	120|140;140;115;146	ENSP00000392242:I120M|ENSP00000379676:M140V;ENSP00000379675:M140V;ENSP00000441166:M115V;ENSP00000414359:M146V	ENSP00000392242:I120M|ENSP00000379675:M140V	I|M	-|-	3|1	3|0	PSMA1|PSMA1	14491818|14491818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.239000|7.239000	0.78182|0.78182	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	ATA|ATG		TCGA-IB-7651-01A-11D-2154-08	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	1	0	1	72	280	0	66	1	1	163	525	0	66	2		0	0	0	0	0	2	1	1	71	274	0	66	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE3B	5140	broad.mit.edu	37	11	14880590	14880590	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14880590C>T	ENST00000282096.4	+	13	2875	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V	PDE3B_ENST00000455098.2_Splice_Site_p.A790V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited			39				Caffeine(DB00201)	TCTTTTTAGGCAGTTTTATAC	0.333000																								0							SO:0001630	splice_region_variant			ENST00000282096.4	1	0	hg19	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258912	0.95368	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.84944	-1.92;-1.92	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96590	0.9437	10	0.87932	D	0	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	790;841	B7ZM37;Q13370	.;PDE3B_HUMAN	V	841;790	ENSP00000282096:A841V;ENSP00000388644:A790V	ENSP00000282096:A841V	A	+	2	0	PDE3B	14837166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.666000	0.90696	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	1	0	0	67	324	0	44	0	9.206836e-01	0	23	0	44	2		0	0	0	0	0	2	1	1	65	317	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2R1	120227	broad.mit.edu	37	11	14902107	14902107	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14902107T>G	ENST00000334636.5	-	3	621	c.575A>C	c.(574-576)aAt>aCt	p.N192T	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1			14				Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AATGATCAGATTGGTTATGTT	0.343000													NSCLC(173;1584 2058 26117 29365 41534)											0							SO:0001583	missense			ENST00000334636.5	1	1	hg19	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008957	0.75046	.	.	ENSG00000186104	ENST00000334636	T	0.67345	-0.26	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	L	0.55213	1.73	0.80722	D	1	D;P	0.76494	0.999;0.736	D;P	0.85130	0.997;0.649	T	0.80915	-0.1169	10	0.87932	D	0	.	16.3196	0.82941	0.0:0.0:0.0:1.0	.	77;192	E9PS56;Q6VVX0	.;CP2R1_HUMAN	T	192	ENSP00000334592:N192T	ENSP00000334592:N192T	N	-	2	0	CYP2R1	14858683	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	5.167000	0.64972	2.248000	0.74166	0.459000	0.35465	AAT		TCGA-IB-7651-01A-11D-2154-08	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	1	0	1	52	249	0	69	1	9.945985e-01	17	24	0	69	2		0	0	0	0	0	2	1	1	52	245	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOB2	81532	broad.mit.edu	37	11	1491566	1491566	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1491566G>A	ENST00000329957.6	-	5	832	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2			4					CGAGCAAAGAGGATGAAGTGG	0.617000																								0							SO:0001583	missense			ENST00000329957.6	1	1	hg19	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563149	0.45694	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.18	3.24	0.37175	.	0.160384	0.40908	D	0.000991	T	0.58821	0.2149	L	0.48174	1.505	0.41982	D	0.990809	P;P	0.49090	0.919;0.72	P;P	0.55749	0.783;0.619	T	0.52801	-0.8527	9	0.12103	T	0.63	-39.9522	12.2761	0.54735	0.0845:0.0:0.9155:0.0	.	215;184	E9PDA5;Q70IA6	.;MOB2_HUMAN	F	215	.	ENSP00000328694:L215F	L	-	1	0	AC091196.1	1448142	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.756000	0.55205	2.176000	0.68965	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	1	0	1	101	468	0	158	1	1	29	106	0	158	2		0	0	0	0	0	2	1	1	99	460	0	155	2								-3.185533	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOB2	81532	broad.mit.edu	37	11	1492597	1492597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1492597G>A	ENST00000329957.6	-	4	607	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2			4					TCAACGTACTGTGGGGCCGTG	0.597000																								0							SO:0001587	stop_gained			ENST00000329957.6	0	1	hg19	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297330	0.95574	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.34	3.39	0.38822	.	0.071849	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-41.0121	12.7035	0.57046	0.0823:0.0:0.9177:0.0	.	.	.	.	X	140	.	ENSP00000328694:Q140X	Q	-	1	0	AC091196.1	1449173	1.000000	0.71417	0.952000	0.39060	0.752000	0.42762	6.065000	0.71176	2.250000	0.74265	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	0	0	0	10	243	0	67	1	9.886171e-01	3	187	0	67	2		0	0	0	0	0	2	1	9.969235e-01	9	242	0	67	2								-11.700610	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.480000	0.240000	1.000000	0.460000	0.518904	0.480000	0	3.500000e-01	6.700000e-01
CALCB	797	broad.mit.edu	37	11	15096342	15096342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15096342G>A	ENST00000533448.1	+	2	189	c.78G>A	c.(76-78)gcG>gcA	p.A26A	CALCB_ENST00000523376.1_Silent_p.A37A|CALCB_ENST00000324229.6_Silent_p.A26A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta			5					TCCAGGCGGCGCCATTCAGGT	0.622000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000533448.1	1	1	hg19	CCDS7820.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	1	0	1	49	233	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	49	232	0	57	2								-3.085897	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INSC	387755	broad.mit.edu	37	11	15134050	15134050	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134050G>T	ENST00000379554.3	+	1	81	c.35G>T	c.(34-36)aGc>aTc	p.S12I	INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)			49					GAGGCGGCCAGCGAAGGTCCA	0.607000																								0							SO:0001583	missense			ENST00000379554.3	1	1	hg19	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	6.506	0.461602	0.12342	.	.	ENSG00000188487	ENST00000379554	T	0.34275	1.37	3.54	3.54	0.40534	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.40179	D	0.977264	B	0.23735	0.09	B	0.34242	0.178	T	0.19451	-1.0305	9	0.72032	D	0.01	-2.209	10.9193	0.47154	0.0:0.0:1.0:0.0	.	12	Q1MX18	INSC_HUMAN	I	12	ENSP00000368872:S12I	ENSP00000368872:S12I	S	+	2	0	INSC	15090626	0.005000	0.15991	0.241000	0.24154	0.030000	0.12068	1.569000	0.36428	2.274000	0.75844	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	1	0	1	35	215	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	35	204	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999903	0.990000	1	9.900000e-01	1
INSC	387755	broad.mit.edu	37	11	15134052	15134052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134052G>A	ENST00000379554.3	+	1	83	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)			49					GGCGGCCAGCGAAGGTCCAGG	0.602000																								0							SO:0001583	missense			ENST00000379554.3	1	1	hg19	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	g	0.155	-1.086815	0.01873	.	.	ENSG00000188487	ENST00000379554	T	0.35421	1.31	3.54	-3.24	0.05094	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	9	0.30078	T	0.28	0.161	5.1726	0.15118	0.4866:0.1524:0.361:0.0	.	13	Q1MX18	INSC_HUMAN	K	13	ENSP00000368872:E13K	ENSP00000368872:E13K	E	+	1	0	INSC	15090628	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.209000	0.09358	-0.708000	0.05015	-1.975000	0.00460	GAA		TCGA-IB-7651-01A-11D-2154-08	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	1	0	1	35	212	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	35	200	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
INSC	387755	broad.mit.edu	37	11	15212360	15212360	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15212360G>T	ENST00000379554.3	+	6	880	c.834G>T	c.(832-834)aaG>aaT	p.K278N	INSC_ENST00000528567.1_Splice_Site_p.K231N|INSC_ENST00000530161.1_Splice_Site_p.K231N|INSC_ENST00000525218.1_Splice_Site_p.K231N|INSC_ENST00000379556.3_Splice_Site_p.K231N|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Splice_Site_p.K231N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)			49					TCATAGCCAAGGTGAGCTTCA	0.537000																								0							SO:0001630	splice_region_variant			ENST00000379554.3	1	0	hg19	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324135	0.60634	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50813	0.75;0.75;0.73;0.75;0.75;0.73	6.06	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.091772	0.85682	D	0.000000	T	0.53238	0.1784	L	0.55481	1.735	0.80722	D	1	P;D;P;P	0.57571	0.947;0.98;0.944;0.796	P;P;P;B	0.51101	0.659;0.646;0.646;0.281	T	0.57814	-0.7746	10	0.72032	D	0.01	-35.2374	12.7863	0.57507	0.0767:0.0:0.9233:0.0	.	266;231;231;278	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	N	278;231;231;266;231;231;231	ENSP00000368872:K278N;ENSP00000368874:K231N;ENSP00000389161:K231N;ENSP00000435022:K231N;ENSP00000436194:K231N;ENSP00000436113:K231N	ENSP00000368872:K278N	K	+	3	2	INSC	15168936	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.302000	0.72788	1.573000	0.49748	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	1	0	0	108	427	0	108	0	3.519262e-01	0	6	0	108	2		0	0	0	0	0	2	1	1	105	416	0	107	2								-3.578420	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15260573G>A	ENST00000379554.3	+	11	1533	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	INSC_ENST00000528567.1_Missense_Mutation_p.R449H|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000525218.1_Missense_Mutation_p.R407H|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.R407H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)			49					ACCCTGGCTCGTCTCAGCCGA	0.607000																								0							SO:0001583	missense			ENST00000379554.3	0	1	hg19	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357252	0.95854	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69654	-0.5087	10	0.72032	D	0.01	-10.436	19.7365	0.96208	0.0:0.0:1.0:0.0	.	484;407;449;496	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	496;449;407;449;449;407	ENSP00000368872:R496H;ENSP00000368874:R449H;ENSP00000389161:R407H;ENSP00000435022:R449H;ENSP00000436194:R449H;ENSP00000436113:R407H	ENSP00000368872:R496H	R	+	2	0	INSC	15217149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.672000	0.90937	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	0	0	0	7	229	0	38	0	4.570494e-02	0	10	0	38	2		0	0	0	0	0	2	1	9.792270e-01	7	223	0	38	2								-8.482903	1	0	121042	1	36	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.370000	0.160000	1.000000	0.350000	0.412327	0.370000	0	2.500000e-01	5.500000e-01
SOX6	55553	broad.mit.edu	37	11	16007925	16007925	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16007925A>G	ENST00000352083.6	-	15	2085	c.2008T>C	c.(2008-2010)Tat>Cat	p.Y670H	SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H|SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6			43					TCTTCATAATAAGGTTGCTTC	0.438000																								0							SO:0001583	missense			ENST00000352083.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.8	4.203537	0.79127	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	5.38	5.38	0.77491	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.116551	0.64402	D	0.000011	D	0.99573	0.9846	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.975;0.996;0.994	D	0.97910	1.0308	10	0.87932	D	0	.	15.3873	0.74711	1.0:0.0:0.0:0.0	.	650;670;646	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	650;670;650;643;646;670	ENSP00000324948:Y650H;ENSP00000339876:Y670H;ENSP00000379644:Y650H;ENSP00000432134:Y643H;ENSP00000434455:Y646H;ENSP00000433233:Y670H	ENSP00000324948:Y650H	Y	-	1	0	SOX6	15964501	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.339000	0.96797	2.047000	0.60756	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	1	0	1	102	456	0	80	0	3.765854e-01	0	7	0	80	2		0	0	0	0	0	2	1	1	99	447	1	80	22								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRTAP5-1	387264	broad.mit.edu	37	11	1606276	1606276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1606276G>A	ENST00000382171.2	-	1	237	c.204C>T	c.(202-204)ggC>ggT	p.G68G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1			16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			AAGAGCCACAGCCCCCTTTGC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000382171.2	1	1	hg19	CCDS31330.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	1	0	1	213	1029	0	240	0	0	0	1	0	240	2		0	0	0	0	0	2	1	1	202	978	0	236	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOX6	55553	broad.mit.edu	37	11	16077436	16077436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16077436G>A	ENST00000352083.6	-	10	1190	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000528252.1_Silent_p.A330A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6			43					CCAGCTGAGCGGCATAGAGCT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000352083.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	1	0	1	51	232	0	46	0	1.556212e-01	0	4	0	46	2		0	0	0	0	0	2	1	1	50	225	0	45	2								-2.985995	1	1	121408	4	35	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRTAP5-3	387266	broad.mit.edu	37	11	1629124	1629124	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1629124G>A	ENST00000399685.1	-	1	569	c.492C>T	c.(490-492)tgC>tgT	p.C164C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3			8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			actgggaacagcagGGCTTAC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000399685.1	1	1	hg19	CCDS41591.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1	1	0	0	296	1351	0	334		0	0	0	0	334	2		0	0	0	0	0	2	1	1	285	1257	0	347	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C11orf58	10944	broad.mit.edu	37	11	16766172	16766172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16766172G>A	ENST00000228136.4	+	2	466	c.88G>A	c.(88-90)Gca>Aca	p.A30T	C11orf58_ENST00000527893.1_3'UTR|C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58			7					TTGGGAGGCAGCAGACTTGGG	0.348000																								0							SO:0001583	missense			ENST00000228136.4	1	1	hg19	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912490	0.92178	.	.	ENSG00000110696	ENST00000228136;ENST00000528634;ENST00000525684	.	.	.	5.41	5.41	0.78517	.	0.052795	0.85682	D	0.000000	T	0.79137	0.4395	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.80910	-0.1171	9	0.72032	D	0.01	.	17.3274	0.87252	0.0:0.0:1.0:0.0	.	30	O00193	SMAP_HUMAN	T	30	.	ENSP00000228136:A30T	A	+	1	0	C11orf58	16722748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.685000	0.91497	0.585000	0.79938	GCA		TCGA-IB-7651-01A-11D-2154-08	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	0	0	1	71	251	0	70	1	1	178	850	0	70	2		0	0	0	0	0	2	1	1	68	247	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHA7	144100	broad.mit.edu	37	11	16811333	16811333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16811333C>T	ENST00000355661.3	-	22	3155	c.3145G>A	c.(3145-3147)Gcg>Acg	p.A1049T	PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T|PLEKHA7_ENST00000332954.4_5'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7			37					GGGAAGGTCGCCTTGCTGCTT	0.612000																								0							SO:0001583	missense			ENST00000355661.3	1	1	hg19	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036085	0.19590	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06528	3.29;3.3;3.3	5.69	-0.19	0.13256	.	1.321840	0.04514	N	0.383466	T	0.03305	0.0096	N	0.08118	0	0.28840	N	0.896653	B;B;B;B;B	0.23990	0.02;0.023;0.057;0.095;0.008	B;B;B;B;B	0.18871	0.018;0.01;0.01;0.023;0.022	T	0.40701	-0.9549	10	0.05525	T	0.97	-0.3836	9.7991	0.40753	0.0:0.5945:0.0:0.4055	.	624;1049;1049;1050;166	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.;.;PKHA7_HUMAN;.;.	T	1049;1049;1050	ENSP00000435389:A1049T;ENSP00000347883:A1049T;ENSP00000416895:A1050T	ENSP00000347883:A1049T	A	-	1	0	PLEKHA7	16767909	0.980000	0.34600	0.775000	0.31657	0.897000	0.52465	0.091000	0.15046	-0.200000	0.10300	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	1	0	1	28	135	0	38	1	9.954028e-01	4	40	0	38	2		0	0	0	0	0	2	1	1	28	133	0	37	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
PLEKHA7	144100	broad.mit.edu	37	11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16823313G>A	ENST00000355661.3	-	16	2219	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7			37					GGCTGGTCTCGGTACTGCTCC	0.557000																								0							SO:0001587	stop_gained			ENST00000355661.3	0	1	hg19	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682262	0.98431	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581	.	.	.	5.88	3.84	0.44239	.	0.164390	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-10.7591	13.1816	0.59657	0.0:0.0:0.5978:0.4022	.	.	.	.	X	737;737;737;68	.	ENSP00000347883:R737X	R	-	1	2	PLEKHA7	16779889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.648000	0.46647	0.753000	0.32945	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	1	0	1	64	267	0	71	1	9.986457e-01	5	39	0	71	2		0	0	0	0	0	2	1	1	64	266	0	71	2								-2.764055	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHA7	144100	broad.mit.edu	37	11	16847918	16847918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16847918C>T	ENST00000355661.3	-	10	1102	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P364P|PLEKHA7_ENST00000448080.2_Silent_p.P364P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7			37					CTGGCGAGTACGGAGACCTGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000355661.3	0	1	hg19	CCDS31434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	0	0	0	11	404	0	63	0	3.373068e-02	1	9	0	63	2		0	0	0	0	0	2	1	9.982682e-01	11	399	0	63	2								-10.222850	1	1	121412	4	36	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.320000	0.170000	1.000000	0.310000	0.361311	0.320000	0	2.300000e-01	4.500000e-01
PLEKHA7	144100	broad.mit.edu	37	11	16863183	16863183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16863183G>T	ENST00000355661.3	-	9	793	c.783C>A	c.(781-783)taC>taA	p.Y261*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Y261*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*|RN7SKP90_ENST00000363013.1_RNA			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7			37					CGGCACTGAAGTAGTAGGTCC	0.577000																								0							SO:0001587	stop_gained			ENST00000355661.3	0	1	hg19	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775681	0.96922	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	.	.	.	5.16	1.26	0.21427	.	0.050847	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.6783	10.5457	0.45058	0.2786:0.0:0.7214:0.0	.	.	.	.	X	261	.	ENSP00000347883:Y261X	Y	-	3	2	PLEKHA7	16819759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.571000	0.53841	0.440000	0.26502	0.650000	0.86243	TAC		TCGA-IB-7651-01A-11D-2154-08	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	1	0	1	85	319	0	85	1	9.844352e-01	4	23	0	85	2		0	0	0	0	0	2	1	1	85	313	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHA7	144100	broad.mit.edu	37	11	16877362	16877362	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16877362C>A	ENST00000355661.3	-	5	415	c.405G>T	c.(403-405)aaG>aaT	p.K135N	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.K135N|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.K135N			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7			37					TGGGTCCAGGCTTGGCCTCCA	0.522000																								0							SO:0001583	missense			ENST00000355661.3	0	1	hg19	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354909	0.41700	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.23348	3.22;3.22;3.22;1.91	5.65	1.41	0.22369	.	0.370841	0.31268	N	0.007950	T	0.13457	0.0326	L	0.27053	0.805	0.31977	N	0.606381	B;P	0.36282	0.282;0.546	B;B	0.31812	0.07;0.136	T	0.14811	-1.0459	10	0.33940	T	0.23	-26.8122	6.8654	0.24091	0.0:0.4738:0.0:0.5262	.	135;135	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	N	135;135;135;29	ENSP00000435389:K135N;ENSP00000347883:K135N;ENSP00000416895:K135N;ENSP00000435806:K29N	ENSP00000347883:K135N	K	-	3	2	PLEKHA7	16833938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.875000	0.28079	0.449000	0.26747	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	0	0	0	14	836	0	153	0	1.612506e-02	0	11	0	153	2		0	0	0	0	0	2	1	9.997071e-01	14	816	0	146	2								-2.615259	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.200000	0.110000	1.000000	0.190000	0.236960	0.200000	0	1.500000e-01	2.700000e-01
PIK3C2A	5286	broad.mit.edu	37	11	17141433	17141433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17141433C>T	ENST00000265970.7	-	15	2745	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	p.A916S(1)|p.A916T(1)		58					CAGTTTGGGGCGCTTGCTAAT	0.363000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000265970.7	1	1	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549157	0.86127	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.61510	0.1;0.1	5.28	4.37	0.52481	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.057131	0.64402	D	0.000001	T	0.69495	0.3117	L	0.58810	1.83	0.58432	D	0.999999	D	0.76494	0.999	D	0.64042	0.921	T	0.70898	-0.4747	10	0.49607	T	0.09	-7.3232	14.08	0.64914	0.0:0.9268:0.0:0.0732	.	916	O00443	P3C2A_HUMAN	T	916;536	ENSP00000265970:A916T;ENSP00000438687:A536T	ENSP00000265970:A916T	A	-	1	0	PIK3C2A	17098009	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.722000	0.68485	1.228000	0.43614	-0.224000	0.12420	GCC		TCGA-IB-7651-01A-11D-2154-08	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	1	88	339	0	70	1	9.989444e-01	10	32	0	70	2		0	0	0	0	0	2	1	1	85	331	0	69	2								-20.000000	1	1	121412	6	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2A	5286	broad.mit.edu	37	11	17150888	17150888	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17150888T>G	ENST00000265970.7	-	12	2357	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha			58					TGCCCAAAGCTTCTGGTCCCT	0.383000																								0							SO:0001583	missense			ENST00000265970.7	1	1	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025382	0.75390	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77877	-1.13;-1.13	6.17	5.05	0.67936	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.70275	2.135	0.54753	D	0.999984	D	0.76494	0.999	D	0.80764	0.994	T	0.81540	-0.0886	10	0.28530	T	0.3	-26.1649	6.5547	0.22454	0.0:0.2214:0.0:0.7786	.	786	O00443	P3C2A_HUMAN	D	786;406	ENSP00000265970:E786D;ENSP00000438687:E406D	ENSP00000265970:E786D	E	-	3	2	PIK3C2A	17107464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.498000	0.45363	2.371000	0.80710	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	1	86	318	0	91	1	9.996535e-01	21	25	0	91	2		0	0	0	0	0	2	1	1	83	311	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2A	5286	broad.mit.edu	37	11	17156420	17156420	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17156420T>C	ENST00000265970.7	-	10	2053	c.2054A>G	c.(2053-2055)cAg>cGg	p.Q685R	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha			58					AAACTGGAGCTGCTCTGTTGT	0.428000																								0							SO:0001583	missense			ENST00000265970.7	1	1	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925415	0.52759	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.62364	0.03;0.4	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.155014	0.56097	D	0.000027	T	0.51534	0.1680	L	0.40543	1.245	0.32711	N	0.511585	B	0.29716	0.255	B	0.27262	0.078	T	0.57093	-0.7870	10	0.11794	T	0.64	-0.5823	15.8332	0.78773	0.0:0.0:0.0:1.0	.	685	O00443	P3C2A_HUMAN	R	685;305	ENSP00000265970:Q685R;ENSP00000438687:Q305R	ENSP00000265970:Q685R	Q	-	2	0	PIK3C2A	17112996	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.733000	0.74796	2.153000	0.67306	0.477000	0.44152	CAG		TCGA-IB-7651-01A-11D-2154-08	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	1	106	438	0	104	1	9.990914e-01	14	31	0	104	2		0	0	0	0	0	2	1	1	105	425	0	104	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRTAP5-6	440023	broad.mit.edu	37	11	1718682	1718682	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718682C>A	ENST00000382160.1	+	1	258	c.207C>A	c.(205-207)ggC>ggA	p.G69G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6			10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CCAAAGGGGGCTGTGGCTCTT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000382160.1	1	1	hg19	CCDS31332.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2	1	0	1	127	1181	0	262		0	0	0	0	262	2		0	0	0	0	0	2	1	1	124	1129	0	252	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.960000	1.000000	1.000000	0.998007	0.990000	1	9.900000e-01	1
PIK3C2A	5286	broad.mit.edu	37	11	17190264	17190264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17190264C>T	ENST00000265970.7	-	1	1024	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha			58					CTGAGTTGTTCGAATATTTAA	0.373000																								0							SO:0001583	missense			ENST00000265970.7	1	1	hg19	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112024	0.37242	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64438	-0.1	5.39	2.39	0.29439	.	0.787528	0.11900	N	0.518665	T	0.47002	0.1422	L	0.32530	0.975	0.80722	D	1	D;P	0.56287	0.975;0.717	B;B	0.41619	0.361;0.13	T	0.29882	-0.9997	10	0.11485	T	0.65	-0.7378	10.8495	0.46761	0.0:0.6901:0.2424:0.0675	.	342;342	F5H5W9;O00443	.;P3C2A_HUMAN	Q	342	ENSP00000265970:R342Q	ENSP00000265970:R342Q	R	-	2	0	PIK3C2A	17146840	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.430000	0.52807	0.633000	0.30452	-0.300000	0.09419	CGA		TCGA-IB-7651-01A-11D-2154-08	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	1	42	507	0	101	1	9.572352e-01	7	57	0	101	2		0	0	0	0	0	2	1	1	40	493	0	100	2								-3.318793	1	1	121410	2	39	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.900000	0.660000	1.000000	1.000000	0.895961	0.900000	1	7.700000e-01	1
NUCB2	4925	broad.mit.edu	37	11	17316892	17316892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17316892C>T	ENST00000529010.1	+	3	241	c.22C>T	c.(22-24)Cta>Tta	p.L8L	NUCB2_ENST00000323688.6_Silent_p.L8L|NUCB2_ENST00000458064.2_Silent_p.L8L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2			14					GACCATCCTGCTACAGTATTG	0.353000																								0							SO:0001819	synonymous_variant			ENST00000529010.1	1	1	hg19	CCDS41623.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	1	0	0	157	660	0	170	1	1	41	203	0	170	2		0	0	0	0	0	2	1	1	152	647	0	170	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNJ11	3767	broad.mit.edu	37	11	17408593	17408593	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408593A>C	ENST00000339994.4	-	1	1613	c.1046T>G	c.(1045-1047)cTt>cGt	p.L349R	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11			16				Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GTCCTCATCAAGCTGGCGGGC	0.627000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000339994.4	1	1	hg19	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990903	0.74703	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.92545	-3.06;-3.06	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.95557	0.8556	M	0.75150	2.29	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	D	0.96066	0.9042	10	0.87932	D	0	.	15.4806	0.75524	1.0:0.0:0.0:0.0	.	349	B2RC52	.	R	349;262	ENSP00000345708:L349R;ENSP00000434755:L262R	ENSP00000345708:L349R	L	-	2	0	KCNJ11	17365169	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.339000	0.96797	2.060000	0.61445	0.459000	0.35465	CTT		TCGA-IB-7651-01A-11D-2154-08	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	1	0	0	41	498	0	95	1	3.263362e-01	3	12	0	95	2		0	0	0	0	0	2	1	1	40	489	0	95	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.900000	0.650000	1.000000	1.000000	0.892123	0.900000	1	7.700000e-01	1
ABCC8	6833	broad.mit.edu	37	11	17414677	17414677	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17414677T>G	ENST00000389817.3	-	39	4677		c.e39-2		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8			67				Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACTCGATGCTGGGCAGGGCA	0.642000																								0		GRCh37	CS025926|CS061237	ABCC8	S		SO:0001630	splice_region_variant			ENST00000389817.3	1	1	hg19	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336514	0.60963	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.069	0.72021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC8	17371253	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.683000	0.84093	1.968000	0.57251	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	1	0	1	51	244	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	50	234	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC8	6833	broad.mit.edu	37	11	17496471	17496471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17496471G>A	ENST00000389817.3	-	2	320	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ABCC8_ENST00000302539.4_Silent_p.V84V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8			67				Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACACACCAGGACGAAGAGCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000389817.3	1	1	hg19	CCDS31437.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	1	0	1	48	238	0	67	0	8.034212e-01	0	17	0	67	2		0	0	0	0	0	2	1	1	48	231	0	67	2								-19.999990	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH1C	10083	broad.mit.edu	37	11	17522689	17522689	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17522689G>T	ENST00000318024.4	-	18	1497	c.1389C>A	c.(1387-1389)tcC>tcA	p.S463S	USH1C_ENST00000527020.1_Silent_p.S444S|USH1C_ENST00000527720.1_Silent_p.S432S|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000005226.7_Silent_p.S763S	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)			48					CCAGGTCTAAGGATCCCTCCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000318024.4	0	1	hg19	CCDS31438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	0	0	0	5	125	0	36	1	9.435451e-01	13	121	0	36	2		0	0	0	0	0	2	1	9.375199e-01	5	124	0	35	2								-8.116648	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.490000	0.190000	1.000000	1.000000	0.533269	0.490000	0	3.100000e-01	7.500000e-01
USH1C	10083	broad.mit.edu	37	11	17545008	17545008	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17545008G>A	ENST00000318024.4	-	10	885	c.777C>T	c.(775-777)gtC>gtT	p.V259V	USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000527720.1_Silent_p.V228V|USH1C_ENST00000005226.7_Silent_p.V259V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)			48					CATTGACTTCGACAATCTGGT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000318024.4	1	1	hg19	CCDS31438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	1	0	1	39	163	0	47	1	9.999930e-01	68	12	0	47	2		0	0	0	0	0	2	1	1	39	158	0	46	2								-20.000000	1	1	121412	6	39	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNC1	3746	broad.mit.edu	37	11	17757938	17757938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17757938G>A	ENST00000379472.3	+	1	419	c.389G>A	c.(388-390)aGc>aAc	p.S130N	KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1			33				Dalfampridine(DB06637)	CTGGACAACAGCGCCGACGAC	0.711000																								0							SO:0001583	missense			ENST00000379472.3	1	1	hg19	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597491	0.28445	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97016	-4.21;-4.21	5.18	4.26	0.50523	.	5.062450	0.00744	N	0.001033	D	0.90995	0.7168	N	0.03608	-0.345	0.34414	D	0.69675	B;B	0.16603	0.0;0.018	B;B	0.18263	0.001;0.021	T	0.75972	-0.3129	10	0.22706	T	0.39	.	11.7462	0.51821	0.0822:0.0:0.9178:0.0	.	130;130	Q3KNS8;P48547	.;KCNC1_HUMAN	N	130	ENSP00000265969:S130N;ENSP00000368785:S130N	ENSP00000265969:S130N	S	+	2	0	KCNC1	17714514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.591000	0.61019	1.173000	0.42796	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	1	0	0	39	113	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	39	111	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNC1	3746	broad.mit.edu	37	11	17793582	17793582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17793582G>A	ENST00000379472.3	+	2	971	c.941G>A	c.(940-942)cGc>cAc	p.R314H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1			33				Dalfampridine(DB06637)	CGCGTCGTCCGCTTCGTGCGC	0.637000																								0							SO:0001583	missense			ENST00000379472.3	1	1	hg19	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241352	0.79912	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.99239	-5.61;-5.61	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97794	1.0240	10	0.87932	D	0	.	18.1947	0.89817	0.0:0.0:1.0:0.0	.	314;314	Q3KNS8;P48547	.;KCNC1_HUMAN	H	314	ENSP00000265969:R314H;ENSP00000368785:R314H	ENSP00000265969:R314H	R	+	2	0	KCNC1	17750158	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.869000	0.99810	2.290000	0.77057	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	1	0	1	53	206	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	51	205	0	40	2								-3.617231	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPH1	7166	broad.mit.edu	37	11	18042657	18042657	+	Missense_Mutation	SNP	G	G	A	rs151168710	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18042657G>A	ENST00000250018.2	-	10	1778	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR|TPH1_ENST00000341556.2_Missense_Mutation_p.R406W	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1			25				L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAATACTCCGTGTATATGGA	0.398000																								0							SO:0001583	missense			ENST00000250018.2	1	1	hg19	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527324	0.96431	2.27E-4	1.16E-4	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99571	-6.19;-6.19	5.53	5.53	0.82687	Aromatic amino acid hydroxylase, C-terminal (4);	0.355631	0.33161	N	0.005214	D	0.99001	0.9659	L	0.29908	0.895	0.46317	D	0.998982	P	0.41643	0.758	P	0.50791	0.65	D	0.99898	1.1153	10	0.87932	D	0	-2.2416	19.8304	0.96632	0.0:0.0:1.0:0.0	.	406	P17752	TPH1_HUMAN	W	406	ENSP00000250018:R406W;ENSP00000343550:R406W	ENSP00000250018:R406W	R	-	1	2	TPH1	17999233	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.813000	0.99286	2.775000	0.95449	0.585000	0.79938	CGG		TCGA-IB-7651-01A-11D-2154-08	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	1	0	1	122	564	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	120	555	0	157	2								-20.000000	1	1	121410	6	43	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPH1	7166	broad.mit.edu	37	11	18057690	18057690	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18057690C>A	ENST00000250018.2	-	2	680		c.e2-1		TPH1_ENST00000341556.2_Splice_Site	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1			25				L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CATGCTTCTCCTGTGTAAAGC	0.353000																								0							SO:0001630	splice_region_variant			ENST00000250018.2	1	1	hg19	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234470	0.79800	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3742	0.94502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPH1	18014266	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.741000	0.84997	2.650000	0.89964	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	1	0	1	22	101	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.999992e-01	21	99	0	26	2								-3.236119	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
SAAL1	113174	broad.mit.edu	37	11	18111740	18111740	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18111740T>C	ENST00000524803.1	-	6	620	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000300013.4_Missense_Mutation_p.M191V			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1			15					GAACTTGACATAATGAAGCAA	0.353000																								0							SO:0001583	missense			ENST00000524803.1	1	1	hg19	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445277	0.63178	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.50813	1.36;0.73;1.3;0.84;0.73;1.3	5.78	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);	0.081223	0.85682	D	0.000000	T	0.55847	0.1946	M	0.63843	1.955	0.42764	D	0.993818	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.53062	0.717;0.717;0.717	T	0.59247	-0.7490	10	0.72032	D	0.01	-13.3883	10.8183	0.46589	0.141:0.0:0.0:0.859	.	191;191;191	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	V	191;191;28;80;191;180	ENSP00000432487:M191V;ENSP00000300013:M191V;ENSP00000432044:M28V;ENSP00000436031:M80V;ENSP00000432216:M191V;ENSP00000431489:M180V	ENSP00000300013:M191V	M	-	1	0	SAAL1	18068316	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.326000	0.65875	0.963000	0.38082	0.519000	0.50382	ATG		TCGA-IB-7651-01A-11D-2154-08	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	1	0	0	11	204	0	39	1	4.355929e-01	4	23	0	39	2		0	0	0	0	0	2	1	9.982929e-01	11	200	0	39	2								-14.543690	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.620000	0.330000	1.000000	1.000000	0.649555	0.620000	0	4.600000e-01	8.500000e-01
MRGPRX3	117195	broad.mit.edu	37	11	18159146	18159146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18159146C>T	ENST00000396275.2	+	3	758	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3			27					GTACCACTGCCGCCGCCCCAG	0.572000																								0							SO:0001583	missense			ENST00000396275.2	1	1	hg19	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910516	0.17833	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.73469	-0.75;-0.75	1.46	-0.827	0.10802	GPCR, rhodopsin-like superfamily (1);	0.878186	0.09819	N	0.751759	T	0.67401	0.2889	L	0.58925	1.835	0.24824	N	0.992564	B	0.22800	0.075	B	0.27715	0.082	T	0.60311	-0.7288	10	0.87932	D	0	.	5.0768	0.14636	0.0:0.4322:0.0:0.5678	.	133	Q96LB0	MRGX3_HUMAN	C	133	ENSP00000379571:R133C;ENSP00000436242:R133C	ENSP00000379571:R133C	R	+	1	0	MRGPRX3	18115722	0.001000	0.12720	0.035000	0.18076	0.017000	0.09413	1.191000	0.32138	-0.245000	0.09625	-0.450000	0.05554	CGC		TCGA-IB-7651-01A-11D-2154-08	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	1	0	1	157	711	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	151	700	0	159	2								-3.259123	1	1	121412	8	45	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAA1	6288	broad.mit.edu	37	11	18290872	18290872	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18290872A>C	ENST00000405158.2	+	3	406	c.222A>C	c.(220-222)gaA>gaC	p.E74D	RNA5SP334_ENST00000364825.1_RNA|SAA1_ENST00000532858.1_Missense_Mutation_p.E74D|SAA1_ENST00000356524.4_Missense_Mutation_p.E74D	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1			9				Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGGCTGCAGAAGTGATCACGT	0.557000																								0							SO:0001583	missense			ENST00000405158.2	0	1	hg19	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499676	0.44455	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.10763	2.84;2.84;2.84	3.23	0.744	0.18353	.	0.647219	0.15120	N	0.279424	T	0.18467	0.0443	M	0.78456	2.415	0.09310	N	1	B;P	0.43412	0.39;0.806	B;P	0.47864	0.161;0.559	T	0.07558	-1.0766	10	0.87932	D	0	.	6.286	0.21033	0.7704:0.0:0.2296:0.0	.	74;74	D3DQX7;P02735	.;SAA_HUMAN	D	74	ENSP00000348918:E74D;ENSP00000436866:E74D;ENSP00000384906:E74D	ENSP00000348918:E74D	E	+	3	2	SAA1	18247448	0.933000	0.31639	0.001000	0.08648	0.021000	0.10359	1.641000	0.37197	0.136000	0.18733	0.374000	0.22700	GAA		TCGA-IB-7651-01A-11D-2154-08	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	0	0	0	4	66	0	13	0	8.471691e-01	0	59	0	13	2		0	0	0	0	0	2	1	8.889764e-01	4	65	0	19	2								-2.869873	1	1	117234	27	32	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.730000	0.250000	1.000000	1.000000	0.724184	0.730000	0	4.400000e-01	1
HPS5	11234	broad.mit.edu	37	11	18313060	18313060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18313060G>A	ENST00000349215.3	-	16	2646	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	HPS5_ENST00000438420.2_Missense_Mutation_p.A676V|HPS5_ENST00000396253.3_Missense_Mutation_p.A676V|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5			30					ACTCTCCTTCGCTCTTTTCAA	0.398000									Hermansky-Pudlak syndrome															0							SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	ENST00000349215.3	1	1	hg19	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	1.114	-0.657429	0.03480	9.1E-4	0.0	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.76709	-1.04;-1.04;-1.04	5.56	2.33	0.28932	.	0.299602	0.36303	N	0.002665	T	0.54351	0.1853	N	0.21142	0.635	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44360	-0.9333	10	0.02654	T	1	.	5.3766	0.16168	0.5457:0.0:0.4543:0.0	.	790	Q9UPZ3	HPS5_HUMAN	V	676;676;790	ENSP00000379552:A676V;ENSP00000399590:A676V;ENSP00000265967:A790V	ENSP00000265967:A790V	A	-	2	0	HPS5	18269636	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	4.151000	0.58105	0.723000	0.32274	-0.751000	0.03497	GCG		TCGA-IB-7651-01A-11D-2154-08	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	1	0	1	32	169	0	41	1	9.958129e-01	4	44	0	41	2		0	0	0	0	0	2	1	1	31	165	0	40	2								-20.000000	1	1	121410	20	40	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
GTF2H1	2965	broad.mit.edu	37	11	18359773	18359773	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18359773T>G	ENST00000265963.4	+	4	625	c.465T>G	c.(463-465)tcT>tcG	p.S155S	GTF2H1_ENST00000534641.1_Silent_p.S39S|GTF2H1_ENST00000453096.2_Silent_p.S155S|GTF2H1_ENST00000524753.4_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa			20					CAGATAGTTCTTCCACATCCA	0.378000								Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000265963.4	1	1	hg19	CCDS7838.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	1	0	1	88	414	0	132	1	9.999178e-01	18	48	0	132	2		0	0	0	0	0	2	1	1	86	406	0	132	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTF2H1	2965	broad.mit.edu	37	11	18387396	18387396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18387396C>T	ENST00000265963.4	+	15	1787	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa			20					GCAGTCACGGCGTCTGATGAA	0.483000								Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000265963.4	1	1	hg19	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171966	0.78452	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496;ENST00000526630	T;T;T;T;T	0.55588	1.66;1.66;1.66;0.55;0.51	5.95	5.03	0.67393	.	0.100411	0.64402	D	0.000001	T	0.66489	0.2794	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67898	-0.5551	10	0.87932	D	0	-3.5832	15.5679	0.76309	0.0:0.9331:0.0:0.0669	.	543	P32780	TF2H1_HUMAN	C	543;427;543;231;133	ENSP00000393638:R543C;ENSP00000435375:R427C;ENSP00000265963:R543C;ENSP00000433133:R231C;ENSP00000439774:R133C	ENSP00000265963:R543C	R	+	1	0	GTF2H1	18343972	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.934000	0.75880	2.824000	0.97209	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	1	0	0	25	137	0	32	1	9.999846e-01	27	75	0	32	2		0	0	0	0	0	2	1	9.999999e-01	25	134	0	32	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999854	0.990000	1	9.900000e-01	1
TSG101	7251	broad.mit.edu	37	11	18536312	18536312	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536312C>T	ENST00000251968.3	-	4	685	c.270G>A	c.(268-270)aaG>aaA	p.K90K	TSG101_ENST00000536719.1_Silent_p.K90K|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101			22					AACTAGTAGGCTTAACAAAAC	0.338000													GBM(99;1348 1396 8611 26475 50572)											0							SO:0001819	synonymous_variant			ENST00000251968.3	1	1	hg19	CCDS7842.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	1	0	0	87	537	0	188	1	1	126	281	0	188	2		0	0	0	0	0	2	1	1	87	525	0	188	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSG101	7251	broad.mit.edu	37	11	18536328	18536328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536328G>T	ENST00000251968.3	-	4	669	c.254C>A	c.(253-255)cCt>cAt	p.P85H	TSG101_ENST00000536719.1_Missense_Mutation_p.P85H|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101			22					AAAACAGATAGGGGGATTATA	0.323000													GBM(99;1348 1396 8611 26475 50572)											0							SO:0001583	missense			ENST00000251968.3	1	1	hg19	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664400	0.67700	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	D;D	0.87179	-2.2;-2.22	5.78	5.78	0.91487	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97057	0.9768	10	0.87932	D	0	-17.6356	20.0203	0.97492	0.0:0.0:1.0:0.0	.	85	Q99816	TS101_HUMAN	H	85	ENSP00000438471:P85H;ENSP00000251968:P85H	ENSP00000251968:P85H	P	-	2	0	TSG101	18492904	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.646000	0.98474	2.730000	0.93505	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	0	0	1	104	599	0	203	1	1	100	263	0	203	2		0	0	0	0	0	2	1	1	104	586	0	201	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UEVLD	55293	broad.mit.edu	37	11	18557951	18557951	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18557951A>G	ENST00000396197.3	-	10	1153		c.e10+1		UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000540666.1_Splice_Site	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains			8					AGTCAGTGTTACCTGTTGGAC	0.368000																								0							SO:0001630	splice_region_variant			ENST00000396197.3	1	1	hg19	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309367	0.40895	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0631	0.53574	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UEVLD	18514527	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	4.689000	0.61723	2.167000	0.68274	0.374000	0.22700	.		TCGA-IB-7651-01A-11D-2154-08	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	1	0	1	98	436	0	85	1	3.426720e-02	2	0	0	85	2		0	0	0	0	0	2	1	1	98	420	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT8	90019	broad.mit.edu	37	11	1856331	1856331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1856331G>A	ENST00000381968.3	+	2	166	c.38G>A	c.(37-39)aGa>aAa	p.R13K	SYT8_ENST00000341958.3_5'UTR|SYT8_ENST00000535046.1_Missense_Mutation_p.R151K|SYT8_ENST00000436964.2_5'UTR	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII			6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CAGCAGGGTAGAAAGATGGGG	0.662000																								0							SO:0001583	missense			ENST00000381968.3	0	1	hg19	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	g	0.664	-0.804557	0.02819	.	.	ENSG00000149043	ENST00000535046;ENST00000381968	T;T	0.19105	2.17;2.99	2.81	-1.95	0.07548	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	0.999997	B	0.09022	0.002	B	0.08055	0.003	T	0.36529	-0.9744	9	0.06236	T	0.91	.	0.5351	0.00635	0.4009:0.181:0.2354:0.1826	.	13	Q8NBV8	SYT8_HUMAN	K	151;13	ENSP00000443325:R151K;ENSP00000371394:R13K	ENSP00000371394:R13K	R	+	2	0	SYT8	1812907	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.184000	0.03076	-0.417000	0.07461	0.305000	0.20034	AGA		TCGA-IB-7651-01A-11D-2154-08	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4	0	0	0	6	309	0	50	0	3.735581e-01	1	59	0	50	2		0	0	0	0	0	2	1	9.639610e-01	6	305	0	49	2								-6.882509	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.240000	0.090000	1.000000	0.230000	0.285177	0.240000	0	1.600000e-01	3.700000e-01
SYT8	90019	broad.mit.edu	37	11	1858551	1858551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1858551G>A	ENST00000381968.3	+	9	1224	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	SYT8_ENST00000341958.3_Missense_Mutation_p.A352T|TNNI2_ENST00000252898.7_5'Flank|TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381906.1_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381911.1_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII			6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GCTGGCCCACGCCCGGCGGCC	0.756000																								0							SO:0001583	missense			ENST00000381968.3	0	1	hg19	CCDS7726.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.74|19.74	3.883746|3.883746	0.72410|0.72410	.|.	.|.	ENSG00000149043|ENSG00000149043	ENST00000381968;ENST00000341958|ENST00000381978	T;T|.	0.07688|.	3.17;3.17|.	3.85|3.85	-0.83|-0.83	0.10792|0.10792	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	.|.	.|.	.|.	.|.	T|T	0.67258|0.67258	0.2874|0.2874	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	P;D|.	0.63046|.	0.955;0.992|.	B;P|.	0.45712|.	0.223;0.491|.	T|T	0.66035|0.66035	-0.6023|-0.6023	9|5	0.87932|.	D|.	0|.	.|.	19.2976|19.2976	0.94129|0.94129	0.0:0.7222:0.2778:0.0|0.0:0.7222:0.2778:0.0	.|.	366;352|.	Q8NBV8;A6NCR4|.	SYT8_HUMAN;.|.	T|H	366;352|364	ENSP00000371394:A366T;ENSP00000343691:A352T|.	ENSP00000343691:A352T|.	A|R	+|+	1|2	0|0	SYT8|SYT8	1815127|1815127	0.020000|0.020000	0.18652|0.18652	0.673000|0.673000	0.29887|0.29887	0.775000|0.775000	0.43874|0.43874	0.288000|0.288000	0.18939|0.18939	-0.234000|-0.234000	0.09782|0.09782	0.436000|0.436000	0.28706|0.28706	GCC|CGC		TCGA-IB-7651-01A-11D-2154-08	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4	0	0	0	6	165	0	21	1	3.291314e-02	2	5	0	21	2		0	0	0	0	0	2	1	9.645293e-01	6	163	0	21	2								-9.263863	1	1	118662	1	29	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.440000	0.180000	1.000000	0.410000	0.484635	0.440000	0	2.900000e-01	6.600000e-01
TNNI2	7136	broad.mit.edu	37	11	1862070	1862070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862070G>A	ENST00000381906.1	+	6	277	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T|TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)			10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			ACAGCTGCACGCCAAGATCGA	0.677000																								0							SO:0001583	missense			ENST00000381906.1	1	1	hg19	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	11.26	1.585488	0.28268	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	2.67	2.67	0.31697	.	0.393040	0.28176	N	0.016318	D	0.94535	0.8240	M	0.62016	1.91	0.36625	D	0.875959	D;P	0.76494	0.999;0.858	D;B	0.75484	0.986;0.107	D	0.95585	0.8650	10	0.48119	T	0.1	-2.6848	14.4828	0.67594	0.0:0.0:1.0:0.0	.	70;70	A6NIV8;P48788	.;TNNI2_HUMAN	T	70	ENSP00000371336:A70T;ENSP00000371331:A70T;ENSP00000252898:A70T;ENSP00000371330:A70T	ENSP00000252898:A70T	A	+	1	0	TNNI2	1818646	0.010000	0.17322	0.999000	0.59377	0.339000	0.28857	0.353000	0.20130	1.812000	0.52913	0.205000	0.17691	GCC		TCGA-IB-7651-01A-11D-2154-08	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	1	0	0	6	116	0	23	0	1.307831e-01	0	11	0	23	2		0	0	0	0	0	2	1	9.653173e-01	6	115	0	23	2								-4.330646	1	1	121212	1	36	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.620000	0.260000	1.000000	1.000000	0.644208	0.620000	0	4.100000e-01	9.100000e-01
TNNI2	7136	broad.mit.edu	37	11	1862727	1862727	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862727C>T	ENST00000381906.1	+	8	564	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_ENST00000252898.7_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I|TNNI2_ENST00000381911.1_Silent_p.I165I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)			10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GGAAGAACATCGAGGAGAAGT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000381906.1	1	1	hg19	CCDS31333.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	1	0	1	65	290	0	88	1	7.557153e-01	3	11	0	88	2		0	0	0	0	0	2	1	1	65	288	0	85	2								-3.430488	1	1	121410	2	36	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM86A	144110	broad.mit.edu	37	11	18722484	18722484	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18722484A>C	ENST00000280734.2	+	2	122	c.26A>C	c.(25-27)aAg>aCg	p.K9T	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A			11					CTCCAGGTGAAGAGTGAAGGA	0.572000																								0							SO:0001583	missense			ENST00000280734.2	1	1	hg19	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716213	0.68844	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.29655	1.56	4.09	4.09	0.47781	.	0.119442	0.56097	D	0.000028	T	0.48429	0.1499	M	0.67397	2.05	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.45026	-0.9289	10	0.46703	T	0.11	-6.8659	8.3037	0.32029	0.9098:0.0:0.0902:0.0	.	9	Q8N2M4	TM86A_HUMAN	T	9	ENSP00000280734:K9T	ENSP00000280734:K9T	K	+	2	0	TMEM86A	18679060	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.952000	0.75989	1.850000	0.53721	0.379000	0.24179	AAG		TCGA-IB-7651-01A-11D-2154-08	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	1	0	1	141	529	0	108	1	9.995883e-01	6	39	0	108	2		0	0	0	0	0	2	1	1	138	516	0	108	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM86A	144110	broad.mit.edu	37	11	18723381	18723381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18723381C>T	ENST00000280734.2	+	3	644	c.548C>T	c.(547-549)gCa>gTa	p.A183V		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A			11					GGCAGTGGTGCACTCTTCTTT	0.582000																								0							SO:0001583	missense			ENST00000280734.2	1	1	hg19	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499632	0.64298	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.38887	1.11	5.43	5.43	0.79202	.	0.054144	0.64402	D	0.000001	T	0.72661	0.3488	M	0.92219	3.285	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.78866	-0.2035	9	.	.	.	-6.7924	19.428	0.94751	0.0:1.0:0.0:0.0	.	183	Q8N2M4	TM86A_HUMAN	V	183	ENSP00000280734:A183V	.	A	+	2	0	TMEM86A	18679957	1.000000	0.71417	0.426000	0.26672	0.055000	0.15305	7.307000	0.78920	2.824000	0.97209	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	1	0	1	66	350	0	63	1	9.999728e-01	18	65	0	63	2		0	0	0	0	0	2	1	1	64	346	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF22	283284	broad.mit.edu	37	11	18729430	18729430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18729430G>A	ENST00000513874.1	-	20	3340	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R	IGSF22_ENST00000510673.1_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22			56					CTGAGTCAGAGCGCTTGGTGC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000513874.1	1	1	hg19	CCDS41625.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	1	0	0	26	161	0	33	0	2.105263e-02	1	1	0	33	2		0	0	0	0	0	2	1	9.999999e-01	26	157	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999539	0.990000	1	9.900000e-01	1
IGSF22	283284	broad.mit.edu	37	11	18741319	18741319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18741319C>T	ENST00000513874.1	-	7	779	c.640G>A	c.(640-642)Gac>Aac	p.D214N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22			56					CCCCGAAAGTCGGTGAAACCA	0.517000																								0							SO:0001583	missense			ENST00000513874.1	1	0	hg19	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797221	0.70567	0.00134	0.003043	ENSG00000179057	ENST00000513874	T	0.60672	0.17	5.15	3.29	0.37713	.	0.177861	0.26804	N	0.022415	T	0.51415	0.1673	M	0.78285	2.405	0.21064	N	0.999792	D	0.56521	0.976	B	0.41174	0.349	T	0.47471	-0.9115	10	0.24483	T	0.36	.	6.0508	0.19785	0.15:0.6882:0.0:0.1618	.	214	D6RGV7	.	N	214	ENSP00000421191:D214N	ENSP00000322422:D214N	D	-	1	0	IGSF22	18697895	0.804000	0.28969	0.134000	0.22075	0.949000	0.60115	1.415000	0.34748	0.578000	0.29487	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	0	1	218	934	0	193		0	0	0	0	193	2		0	0	0	0	0	2	1	1	217	919	0	192	2								-3.105174	1	1	120840	515	63	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRGPRX1	259249	broad.mit.edu	37	11	18955973	18955973	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18955973C>T	ENST00000302797.3	-	1	583	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1			36					GGACAGGCAGCGCTCGGTGCT	0.587000																								0							SO:0001583	missense			ENST00000302797.3	1	1	hg19	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.228404	0.79576	.	.	ENSG00000170255	ENST00000302797	D	0.97161	-4.27	2.28	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	D	0.97754	0.9263	M	0.93150	3.385	0.24603	N	0.993768	D	0.56968	0.978	P	0.56398	0.797	D	0.94314	0.7548	10	0.87932	D	0	.	6.9697	0.24642	0.0:0.6113:0.0:0.3887	.	120	Q96LB2	MRGX1_HUMAN	H	120	ENSP00000305766:R120H	ENSP00000305766:R120H	R	-	2	0	MRGPRX1	18912549	0.057000	0.20700	0.039000	0.18376	0.683000	0.39861	1.610000	0.36869	-0.258000	0.09446	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	1	0	1	110	506	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	110	498	0	106	2								-20.000000	1	1	121268	14	42	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LSP1	4046	broad.mit.edu	37	11	1901374	1901374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1901374G>T	ENST00000311604.3	+	2	286	c.111G>T	c.(109-111)caG>caT	p.Q37H	LSP1_ENST00000381775.1_Missense_Mutation_p.Q165H|LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000406638.2_5'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1			16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			AGCAATGCCAGCATGAGAGAG	0.657000																								0							SO:0001583	missense			ENST00000311604.3	1	1	hg19	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.400235	0.42613	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000457279;ENST00000429923;ENST00000418975	T;T;T;T;T	0.49139	1.86;1.79;1.86;1.4;0.79	3.24	-0.0138	0.13982	.	0.367615	0.15648	U	0.251555	T	0.30417	0.0764	L	0.36672	1.1	0.09310	N	0.999992	B;B	0.28512	0.214;0.07	B;B	0.22753	0.041;0.025	T	0.14392	-1.0474	10	0.51188	T	0.08	-12.2831	4.5777	0.12241	0.237:0.183:0.58:0.0	.	165;37	E9PFP3;P33241	.;LSP1_HUMAN	H	37;165;28;20;55	ENSP00000308383:Q37H;ENSP00000371194:Q165H;ENSP00000400346:Q28H;ENSP00000400999:Q20H;ENSP00000403460:Q55H	ENSP00000308383:Q37H	Q	+	3	2	LSP1	1857950	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.097000	0.12307	0.491000	0.48974	CAG		TCGA-IB-7651-01A-11D-2154-08	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	1	0	1	43	189	0	36	0	1	1	591	0	36	2		0	0	0	0	0	2	1	1	41	188	0	36	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LSP1	4046	broad.mit.edu	37	11	1904667	1904667	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1904667C>T	ENST00000311604.3	+	4	550	c.375C>T	c.(373-375)taC>taT	p.Y125Y	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000406638.2_Silent_p.Y63Y	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	p.Y63Y(1)|p.Y125Y(1)		16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			TGCATGCCTACGAAAAGGAGG	0.587000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000311604.3	1	1	hg19	CCDS31334.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	1	0	1	62	325	0	87	1	1	2	420	0	87	2		0	0	0	0	0	2	1	1	60	319	0	84	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
E2F8	79733	broad.mit.edu	37	11	19259489	19259489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19259489G>A	ENST00000527884.1	-	3	438	c.206C>T	c.(205-207)gCt>gTt	p.A69V	E2F8_ENST00000250024.4_Missense_Mutation_p.A69V|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8			42					AGGGCTCACAGCACTGATGAG	0.512000																								0							SO:0001583	missense			ENST00000527884.1	1	1	hg19	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408560	0.96051	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.60672	0.87;0.87;0.17	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77197	-0.2676	10	0.66056	D	0.02	-15.7278	19.0694	0.93126	0.0:0.0:1.0:0.0	.	69	A0AVK6	E2F8_HUMAN	V	69	ENSP00000434199:A69V;ENSP00000250024:A69V;ENSP00000437326:A69V	ENSP00000250024:A69V	A	-	2	0	E2F8	19216065	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.777000	0.99008	2.654000	0.90174	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	1	0	1	188	837	0	164	1	1.568407e-01	2	2	0	164	2		0	0	0	0	0	2	1	1	184	810	0	164	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNNT3	7140	broad.mit.edu	37	11	1955621	1955621	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1955621G>T	ENST00000397301.1	+	13	467	c.459G>T	c.(457-459)aaG>aaT	p.K153N	TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381558.1_Missense_Mutation_p.K134N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)			19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			ACGACCTGAAGAAGAAGAAAG	0.582000																								0							SO:0001583	missense			ENST00000397301.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	.	18.94	3.729644	0.69074	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	4.66	1.66	0.24008	.	0.048143	0.85682	N	0.000000	D	0.91784	0.7401	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.995;0.995;0.995;0.998	D;D;D;D;D	0.70487	0.948;0.948;0.948;0.948;0.969	D	0.89446	0.3727	10	0.87932	D	0	-15.3383	6.8869	0.24208	0.1526:0.0:0.7057:0.1416	.	142;134;140;134;153	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	N	142;38;154;145;144;136;134;140;134;128;123;145;129;134;153;123;123	ENSP00000278317:K142N;ENSP00000370973:K145N;ENSP00000370960:K144N;ENSP00000353815:K136N;ENSP00000370961:K134N;ENSP00000371001:K140N;ENSP00000370991:K134N;ENSP00000370969:K128N;ENSP00000415614:K123N;ENSP00000370975:K145N;ENSP00000344870:K129N;ENSP00000370970:K134N;ENSP00000380468:K153N;ENSP00000380471:K123N;ENSP00000413203:K123N	ENSP00000278317:K142N	K	+	3	2	TNNT3	1912197	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.268000	0.65536	0.139000	0.18822	0.313000	0.20887	AAG		TCGA-IB-7651-01A-11D-2154-08	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	1	0	1	30	177	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	1	30	176	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999871	0.990000	1	9.900000e-01	1
TNNT3	7140	broad.mit.edu	37	11	1958209	1958209	+	Missense_Mutation	SNP	G	G	A	rs1130395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1958209G>A	ENST00000397301.1	+	16	739	c.731G>A	c.(730-732)aGc>aAc	p.S244N	TNNT3_ENST00000381548.3_Missense_Mutation_p.S235N|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000397304.2_Missense_Mutation_p.S214N|TNNT3_ENST00000381561.4_Missense_Mutation_p.S236N|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381589.3_Missense_Mutation_p.S231N|TNNT3_ENST00000381549.3_Missense_Mutation_p.S225N|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000381558.1_Missense_Mutation_p.S225N|TNNT3_ENST00000278317.6_Missense_Mutation_p.S233N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)			19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			ACGCTCAGGAGCCGCATTGAC	0.652000																								0							SO:0001583	missense			ENST00000397301.1	0	0	hg19		.	.	.	.	.	.	.	.	.	.	.	0.220	-1.029750	0.02045	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000381549;ENST00000381589;ENST00000381557;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304	T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.19	3.26	0.37387	.	0.530183	0.22387	N	0.060730	T	0.30603	0.0770	N	0.00453	-1.485	0.24806	N	0.992672	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.46034	-0.9220	10	0.02654	T	1	-2.5967	4.292	0.10883	0.365:0.0:0.635:0.0	.	233;225;231	P45378-2;P45378-7;P45378-6	.;.;.	N	233;245;236;235;225;231;219;236;220;225;244;214	ENSP00000278317:S233N;ENSP00000370973:S236N;ENSP00000370960:S235N;ENSP00000370961:S225N;ENSP00000371001:S231N;ENSP00000370969:S219N;ENSP00000370975:S236N;ENSP00000344870:S220N;ENSP00000370970:S225N;ENSP00000380468:S244N;ENSP00000380471:S214N	ENSP00000278317:S233N	S	+	2	0	TNNT3	1914785	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.737000	0.38197	2.063000	0.61619	0.306000	0.20318	AGC		TCGA-IB-7651-01A-11D-2154-08	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	1	0	1	8	74	0	11	0	0	0	1	0	11	2		0	0	0	0	0	2	1	9.890103e-01	8	71	0	11	2								-13.874460	1	0	120858	42	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.560000	1.000000	1.000000	0.938022	0.990000	1	8.200000e-01	1
MRPL23	6150	broad.mit.edu	37	11	1974067	1974067	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1974067G>T	ENST00000397298.3	+	4	364	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_Missense_Mutation_p.K93N|MRPL23_ENST00000381514.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23			4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CGGACTACAAGGTCGCCTACG	0.542000											OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000397298.3	1	1	hg19	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980164	0.53827	2.27E-4	0.0	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	3.18	2.24	0.28232	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	D	0.84047	0.5386	H	0.95151	3.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83812	0.0242	10	0.87932	D	0	.	7.6413	0.28294	0.2208:0.0:0.7792:0.0	.	93	Q16540	RM23_HUMAN	N	93	ENSP00000380466:K93N;ENSP00000370930:K93N;ENSP00000380465:K93N;ENSP00000370925:K93N;ENSP00000380462:K93N	ENSP00000370925:K93N	K	+	3	2	MRPL23	1930643	1.000000	0.71417	0.992000	0.48379	0.828000	0.46876	1.738000	0.38207	0.654000	0.30846	0.313000	0.20887	AAG		TCGA-IB-7651-01A-11D-2154-08	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	1	0	0	8	129	0	33	1	9.999978e-01	40	546	0	33	2		0	0	0	0	0	2	1	9.900553e-01	8	129	0	33	2								-3.153190	1	1	121400	1	21	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.720000	0.340000	1.000000	1.000000	0.728388	0.720000	0	5.000000e-01	1
NAV2	89797	broad.mit.edu	37	11	19901485	19901485	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901485G>T	ENST00000396087.3	+	5	681	c.582G>T	c.(580-582)caG>caT	p.Q194H	NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q194H|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2			116					agcagcagcagcagcagcccc	0.607000																								0							SO:0001583	missense			ENST00000396087.3	1	1	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555291	0.86231	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.93	3.04	0.35103	.	0.000000	0.53938	D	0.000048	T	0.56366	0.1980	N	0.22421	0.69	0.80722	D	1	D;P	0.63046	0.992;0.939	P;P	0.61658	0.892;0.687	T	0.51826	-0.8656	9	.	.	.	.	11.3753	0.49724	0.2009:0.0:0.7991:0.0	.	194;130	Q8IVL1-3;Q8IVL1-4	.;.	H	130;194;194;194;123;125	ENSP00000353871:Q130H;ENSP00000379394:Q194H;ENSP00000309577:Q194H;ENSP00000379396:Q194H;ENSP00000435395:Q123H;ENSP00000443489:Q125H	.	Q	+	3	2	NAV2	19858061	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.306000	0.33505	0.847000	0.35167	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	1	0	0	99	413	0	103	0	4.795437e-01	0	8	0	103	2		0	0	0	0	0	2	1	1	97	436	0	107	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV2	89797	broad.mit.edu	37	11	19901641	19901641	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901641G>T	ENST00000396087.3	+	5	837	c.738G>T	c.(736-738)caG>caT	p.Q246H	NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q246H|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2			116					CGCCACATCAGCAGTCAAAAG	0.622000																								0							SO:0001583	missense			ENST00000396087.3	1	1	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715084	0.48622	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28895	1.61;1.71;1.71;1.69;1.59;1.59	5.73	5.73	0.89815	.	0.122438	0.37261	N	0.002163	T	0.21674	0.0522	L	0.36672	1.1	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09840	-1.0656	9	.	.	.	.	7.7447	0.28862	0.0795:0.0:0.7134:0.2071	.	246;182	Q8IVL1-3;Q8IVL1-4	.;.	H	182;246;246;246;175;177	ENSP00000353871:Q182H;ENSP00000379394:Q246H;ENSP00000309577:Q246H;ENSP00000379396:Q246H;ENSP00000435395:Q175H;ENSP00000443489:Q177H	.	Q	+	3	2	NAV2	19858217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.358000	0.44134	2.710000	0.92621	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	1	0	1	35	144	0	27	0	2.615770e-01	1	4	0	27	2		0	0	0	0	0	2	1	1	35	138	0	23	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV2	89797	broad.mit.edu	37	11	19961293	19961293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19961293G>A	ENST00000396087.3	+	9	2288	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E|NAV2_ENST00000396085.1_Missense_Mutation_p.G707E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2			116					ACCAAGACTGGACAGCCTGCT	0.532000																								0							SO:0001583	missense			ENST00000396087.3	1	1	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132349	0.56828	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28666	1.6;1.71;1.71;1.71;1.61;1.61	5.71	4.78	0.61160	.	0.094301	0.46442	D	0.000290	T	0.28665	0.0710	L	0.44542	1.39	0.80722	D	1	B;B	0.21071	0.051;0.041	B;B	0.22753	0.041;0.031	T	0.03784	-1.1004	9	.	.	.	.	16.3163	0.82930	0.0:0.2485:0.7515:0.0	.	707;643	Q8IVL1-3;Q8IVL1-4	.;.	E	643;707;707;730;659;661	ENSP00000353871:G643E;ENSP00000379394:G707E;ENSP00000309577:G707E;ENSP00000379396:G730E;ENSP00000435395:G659E;ENSP00000443489:G661E	.	G	+	2	0	NAV2	19917869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.932000	0.56537	1.372000	0.46190	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	1	0	0	30	134	0	34	0	1.627137e-01	0	4	0	34	2		0	0	0	0	0	2	1	1	30	131	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
NAV2	89797	broad.mit.edu	37	11	20066559	20066559	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20066559C>T	ENST00000396087.3	+	15	3413	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000396085.1_Missense_Mutation_p.P1082L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2			116					AGGCTTTCTCCTAAAGCCTCC	0.542000																								0							SO:0001583	missense			ENST00000396087.3	1	1	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404617	0.62288	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.39036	0.1063	N	0.24115	0.695	0.80722	D	1	D;D;D;B;D	0.89917	1.0;1.0;1.0;0.166;1.0	D;D;D;B;D	0.91635	0.999;0.999;0.999;0.108;0.999	T	0.08513	-1.0718	9	.	.	.	.	19.6575	0.95849	0.0:1.0:0.0:0.0	.	1105;168;168;1082;1018	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	L	1018;1082;1082;1105;1034;1036;168;168;168;168	ENSP00000353871:P1018L;ENSP00000379394:P1082L;ENSP00000309577:P1082L;ENSP00000379396:P1105L;ENSP00000435395:P1034L;ENSP00000443489:P1036L;ENSP00000437316:P168L;ENSP00000437136:P168L;ENSP00000312169:P168L	.	P	+	2	0	NAV2	20023135	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.776000	0.85560	2.728000	0.93425	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	1	0	1	58	236	0	60	0	7.583150e-01	0	13	0	60	2		0	0	0	0	0	2	1	1	56	232	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV2	89797	broad.mit.edu	37	11	20089942	20089942	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20089942A>C	ENST00000396087.3	+	24	5248	c.5149A>C	c.(5149-5151)Aat>Cat	p.N1717H	NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H|NAV2_ENST00000396085.1_Missense_Mutation_p.N1661H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2			116					GCTGACAGCAAATGTAAGTAC	0.507000																								0							SO:0001583	missense			ENST00000396087.3	1	1	hg19	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600692	0.87055	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000003	D	0.95414	0.8511	L	0.60067	1.865	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.999;1.0;0.989;0.991;1.0;0.999	D;D;P;D;D;D	0.80764	0.985;0.959;0.847;0.914;0.994;0.949	D	0.94978	0.8123	9	.	.	.	.	13.6741	0.62443	1.0:0.0:0.0:0.0	.	1661;1717;725;710;1661;1597	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	H	1597;1661;1661;1717;1646;1648;725;710;725;710	ENSP00000353871:N1597H;ENSP00000379394:N1661H;ENSP00000309577:N1661H;ENSP00000379396:N1717H;ENSP00000435395:N1646H;ENSP00000443489:N1648H;ENSP00000437316:N725H;ENSP00000437136:N710H;ENSP00000312169:N725H	.	N	+	1	0	NAV2	20046518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.614000	0.74197	2.060000	0.61445	0.454000	0.30748	AAT		TCGA-IB-7651-01A-11D-2154-08	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	0	0	1	75	328	0	116	0	6.366252e-01	0	11	0	116	2		0	0	0	0	0	2	1	1	75	323	0	114	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTATIP2	10553	broad.mit.edu	37	11	20388826	20388826	+	Missense_Mutation	SNP	C	C	T	rs148194087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20388826C>T	ENST00000532081.1	+	2	399	c.302C>T	c.(301-303)gCg>gTg	p.A101V	HTATIP2_ENST00000419348.2_Splice_Site_p.A135V|HTATIP2_ENST00000531058.1_Splice_Site_p.A101V|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000451739.2_Splice_Site_p.A101V|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101V|HTATIP2_ENST00000443524.2_Splice_Site_p.A101V	NM_001098523.1	NP_001091993.1			HIV-1 Tat interactive protein 2, 30kDa			8					AAAGCTGGGGCGGTAAGGAAG	0.458000																								0							SO:0001583	missense			ENST00000532081.1	1	1	hg19	CCDS53613.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125446	0.56721	0.0	1.16E-4	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T;T;T;T	0.32023	1.47;1.55;1.55;1.55;1.55;1.47;1.47;1.55	5.6	5.6	0.85130	Semialdehyde dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.145254	0.64402	D	0.000008	T	0.35189	0.0923	L	0.36672	1.1	0.23823	N	0.996744	P;D;B	0.65815	0.813;0.995;0.42	B;P;B	0.54499	0.266;0.754;0.014	T	0.18304	-1.0341	10	0.30078	T	0.28	-15.037	12.1009	0.53783	0.1716:0.8283:0.0:0.0	.	101;101;135	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	V	101;101;101;135;101;101;101;101	ENSP00000436548:A101V;ENSP00000397752:A101V;ENSP00000387876:A101V;ENSP00000392985:A135V;ENSP00000394259:A101V;ENSP00000432338:A101V;ENSP00000432107:A101V;ENSP00000436729:A101V	ENSP00000392985:A135V	A	+	2	0	HTATIP2	20345402	1.000000	0.71417	0.999000	0.59377	0.189000	0.23516	3.083000	0.50136	2.633000	0.89246	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	HTATIP2-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387446.2	0	0	0	11	348	0	60	1	9.993124e-01	31	384	0	60	2		0	0	0	0	0	2	1	9.981806e-01	11	340	0	60	2								-2.907640	1	1	121410	6	40	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.370000	0.190000	1.000000	0.360000	0.410795	0.370000	0	2.700000e-01	5.100000e-01
HTATIP2	10553	broad.mit.edu	37	11	20404603	20404603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20404603C>T	ENST00000451739.2	+	5	1022	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F|HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa			8					TTACCAGACTCTTGGGCCAGT	0.448000																								0							SO:0001583	missense			ENST00000451739.2	1	1	hg19	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488523	0.44249	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.57	6.07	5.16	0.70880	NAD(P)-binding domain (1);	0.376385	0.29684	N	0.011467	T	0.13200	0.0320	N	0.05574	-0.02	0.38429	D	0.946382	B;B	0.13594	0.001;0.008	B;B	0.04013	0.001;0.001	T	0.20538	-1.0272	10	0.09843	T	0.71	-6.2661	8.3212	0.32130	0.0:0.8386:0.0:0.1614	.	194;228	Q9BUP3;Q9BUP3-3	HTAI2_HUMAN;.	F	194;194;228;194;148	ENSP00000397752:S194F;ENSP00000387876:S194F;ENSP00000392985:S228F;ENSP00000394259:S194F;ENSP00000436729:S148F	ENSP00000392985:S228F	S	+	2	0	HTATIP2	20361179	0.039000	0.19947	0.982000	0.44146	0.195000	0.23768	1.960000	0.40422	2.885000	0.99019	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	1	0	1	28	124	0	34	1	1	81	232	0	34	2		0	0	0	0	0	2	1	1	28	121	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
PRMT3	10196	broad.mit.edu	37	11	20417453	20417453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20417453G>A	ENST00000331079.6	+	6	722	c.505G>A	c.(505-507)Gca>Aca	p.A169T	PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3			17					GGAAGCCAGGGCACTGTCTGC	0.398000																								0							SO:0001583	missense			ENST00000331079.6	1	1	hg19	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372320	0.82573	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.26810	1.71;1.71	5.62	5.62	0.85841	.	0.045693	0.85682	D	0.000000	T	0.43634	0.1256	M	0.61703	1.905	0.58432	D	0.999999	P;D	0.69078	0.887;0.997	P;P	0.58210	0.69;0.835	T	0.06807	-1.0806	10	0.16896	T	0.51	-19.0595	19.6155	0.95632	0.0:0.0:1.0:0.0	.	107;169	O60678-2;O60678	.;ANM3_HUMAN	T	169;169;107	ENSP00000331879:A169T;ENSP00000397766:A107T	ENSP00000331879:A169T	A	+	1	0	PRMT3	20374029	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.473000	0.81007	2.801000	0.96364	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	1	0	1	67	293	0	62	1	9.999971e-01	29	55	0	62	2		0	0	0	0	0	2	1	1	63	287	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRMT3	10196	broad.mit.edu	37	11	20529951	20529951	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20529951C>A	ENST00000331079.6	+	16	1805	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3			17					AACTTATGGTCTCCAGTGAAA	0.448000																								0							SO:0001583	missense			ENST00000331079.6	1	1	hg19	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452315	0.43531	.	.	ENSG00000185238	ENST00000331079;ENST00000437750	T;T	0.32023	1.47;1.47	5.71	4.75	0.60458	.	0.056069	0.64402	D	0.000001	T	0.32675	0.0837	L	0.60845	1.875	0.53005	D	0.999961	B;B	0.18741	0.03;0.01	B;B	0.29176	0.099;0.046	T	0.13953	-1.0490	10	0.52906	T	0.07	-11.2682	11.1838	0.48644	0.1831:0.8169:0.0:0.0	.	468;530	O60678-2;O60678	.;ANM3_HUMAN	I	530;468	ENSP00000331879:L530I;ENSP00000397766:L468I	ENSP00000331879:L530I	L	+	1	0	PRMT3	20486527	0.992000	0.36948	0.977000	0.42913	0.717000	0.41224	2.991000	0.49409	2.684000	0.91462	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	1	0	1	13	249	0	64	1	9.300662e-01	10	80	0	64	2		0	0	0	0	0	2	1	9.994997e-01	13	243	0	63	2								-3.234627	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.600000	0.330000	1.000000	0.580000	0.628558	0.600000	0	4.500000e-01	8.000000e-01
SLC6A5	9152	broad.mit.edu	37	11	20652292	20652292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20652292G>A	ENST00000525748.1	+	10	1828	c.1555G>A	c.(1555-1557)Gtc>Atc	p.V519I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	p.V519I(1)		63				Glycine(DB00145)	TGCCGGCTTCGTCATCTTCTC	0.498000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000525748.1	1	1	hg19	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930191	0.92389	.	.	ENSG00000165970	ENST00000525748	T	0.75589	-0.95	5.57	5.57	0.84162	.	0.053759	0.85682	D	0.000000	D	0.82912	0.5140	L	0.52266	1.64	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.83931	0.0306	10	0.72032	D	0.01	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	519	Q9Y345	SC6A5_HUMAN	I	519	ENSP00000434364:V519I	ENSP00000434364:V519I	V	+	1	0	SLC6A5	20608868	1.000000	0.71417	0.978000	0.43139	0.653000	0.38743	9.869000	0.99810	2.618000	0.88619	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	1	0	1	108	442	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	110	434	0	96	2								-20.000000	1	1	121412	3	39	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NELL1	4745	broad.mit.edu	37	11	20948936	20948936	+	Missense_Mutation	SNP	G	G	A	rs140129150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20948936G>A	ENST00000357134.5	+	8	994	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NELL1_ENST00000298925.5_Missense_Mutation_p.R309Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)			70					CTGCTCTATCGAGATCAAGAC	0.393000																								0							SO:0001583	missense			ENST00000357134.5	1	1	hg19	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076534	0.94000	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.7	5.7	0.88788	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.41824	1.3	0.53688	D	0.999975	D;D;D;D	0.76494	0.999;0.999;0.987;0.999	D;D;P;D	0.80764	0.99;0.994;0.629;0.994	T	0.75158	-0.3416	10	0.30078	T	0.28	-14.2843	19.851	0.96740	0.0:0.0:1.0:0.0	.	224;309;281;281	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	309;281;224;281	ENSP00000298925:R309Q;ENSP00000349654:R281Q;ENSP00000317837:R224Q;ENSP00000437170:R281Q	ENSP00000298925:R309Q	R	+	2	0	NELL1	20905512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	2.687000	0.91594	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	1	0	1	62	265	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	62	262	0	48	2								-3.197253	1	1	121412	18	48	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIC8A	60626	broad.mit.edu	37	11	209565	209565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:209565C>T	ENST00000526104.1	+	3	1635	c.291C>T	c.(289-291)gaC>gaT	p.D97D	BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000527696.1_Silent_p.D91D|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000382762.3_5'Flank|RIC8A_ENST00000325207.5_Silent_p.D97D|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A			13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			GCTATGCTGACATCTCTGTCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000526104.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	1	0	1	61	230	0	52	1	1	74	193	0	52	2		0	0	0	0	0	2	1	1	61	226	0	52	2								-3.812355	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NELL1	4745	broad.mit.edu	37	11	21581775	21581775	+	Silent	SNP	C	C	T	rs111554917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:21581775C>T	ENST00000357134.5	+	17	1979	c.1827C>T	c.(1825-1827)aaC>aaT	p.N609N	NELL1_ENST00000298925.5_Silent_p.N637N|NELL1_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Silent_p.N552N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)			70					CCTGTTGGAACGATTCTGCCT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000357134.5	1	1	hg19	CCDS7855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	1	0	1	105	512	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	103	502	0	106	2								-20.000000	1	1	121408	1	42	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TH	7054	broad.mit.edu	37	11	2186913	2186913	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2186913G>T	ENST00000381178.1	-	12	1296	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	TH_ENST00000352909.3_Silent_p.S395S|TH_ENST00000333684.5_Silent_p.S305S|TH_ENST00000381175.1_Silent_p.S422S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase			11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCCCGTAGGAGGACAGCA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000381178.1	1	1	hg19	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	G	3.918	-0.018787	0.07681	.	.	ENSG00000180176	ENST00000412076	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	T	0.60971	0.2310	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59473	-0.7448	4	.	.	.	5.293	10.8905	0.46992	0.0:0.0:0.812:0.188	.	.	.	.	I	115	.	.	L	-	1	2	TH	2143489	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	1.446000	0.35090	1.970000	0.57323	0.491000	0.48974	CTA		TCGA-IB-7651-01A-11D-2154-08	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	1	0	1	27	145	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	27	142	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999925	0.990000	1	9.900000e-01	1
TH	7054	broad.mit.edu	37	11	2189762	2189762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189762C>T	ENST00000381178.1	-	4	557	c.539G>A	c.(538-540)cGc>cAc	p.R180H	TH_ENST00000352909.3_Missense_Mutation_p.R149H|TH_ENST00000333684.5_Missense_Mutation_p.R153H|TH_ENST00000381175.1_Missense_Mutation_p.R176H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase			11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TGACACCTGGCGCACACCACT	0.711000																								0							SO:0001583	missense			ENST00000381178.1	0	1	hg19	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657311	0.47467	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	3.67	1.55	0.23275	.	0.199725	0.42821	N	0.000647	D	0.97377	0.9142	M	0.66939	2.045	0.33546	D	0.595514	P;B;B;D;D;D	0.58268	0.48;0.029;0.029;0.982;0.97;0.982	B;B;B;P;P;P	0.54544	0.036;0.003;0.003;0.755;0.574;0.755	D	0.96649	0.9480	10	0.87932	D	0	-13.4039	4.7319	0.12968	0.0:0.5847:0.1841:0.2312	.	153;153;149;149;180;176	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	H	180;176;149;153	ENSP00000370571:R180H;ENSP00000370567:R176H;ENSP00000325951:R149H;ENSP00000328814:R153H	ENSP00000328814:R153H	R	-	2	0	TH	2146338	0.999000	0.42202	0.769000	0.31535	0.084000	0.17831	0.518000	0.22847	0.657000	0.30906	-0.339000	0.08088	CGC		TCGA-IB-7651-01A-11D-2154-08	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	0	0	0	6	182	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.645573e-01	5	181	0	29	2								-8.034090	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.400000	0.160000	1.000000	0.370000	0.446007	0.400000	0	2.600000e-01	6.100000e-01
TH	7054	broad.mit.edu	37	11	2189854	2189854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189854G>A	ENST00000381178.1	-	4	465	c.447C>T	c.(445-447)gcC>gcT	p.A149A	TH_ENST00000352909.3_Silent_p.A118A|TH_ENST00000333684.5_Silent_p.A122A|TH_ENST00000381175.1_Silent_p.A145A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase			11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCGGCCTCTGGGCGGGCCGGG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000381178.1	1	1	hg19	CCDS7731.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	1	0	0	49	135	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1	48	132	0	19	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO5	203859	broad.mit.edu	37	11	22225378	22225378	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22225378C>T	ENST00000324559.8	+	2	386	c.69C>T	c.(67-69)taC>taT	p.Y23Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5			63					ATATAGACTACTCTTTCCAAA	0.279000																								0							SO:0001819	synonymous_variant			ENST00000324559.8	1	1	hg19	CCDS31444.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	1	6	61	0	30	0	3.184323e-02	0	3	0	30	2		0	0	0	0	0	2	1	9.622918e-01	6	58	0	29	2								-11.231880	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.460000	1.000000	1.000000	0.902827	0.990000	1	7.300000e-01	1
ANO5	203859	broad.mit.edu	37	11	22283829	22283829	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22283829G>A	ENST00000324559.8	+	16	2102	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5			63					TATTTAATGAGTGGAGAAGTG	0.363000																								0							SO:0001819	synonymous_variant			ENST00000324559.8	1	1	hg19	CCDS31444.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	1	81	407	0	86	0	7.520678e-02	0	3	0	86	2		0	0	0	0	0	2	1	1	81	402	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO5	203859	broad.mit.edu	37	11	22301230	22301230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22301230C>T	ENST00000324559.8	+	22	2978	c.2661C>T	c.(2659-2661)aaC>aaT	p.N887N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5			63					TAAAAGAGAACTTGGGAATTA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000324559.8	1	1	hg19	CCDS31444.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	1	39	236	0	67	0	5.747911e-02	0	3	0	67	2		0	0	0	0	0	2	1	1	39	232	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
SLC17A6	57084	broad.mit.edu	37	11	22363311	22363311	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22363311C>T	ENST00000263160.3	+	2	761	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	p.G108G(1)		50					ACCGCGGGGGCAAGGTCATCA	0.632000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000263160.3	1	1	hg19	CCDS7856.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	1	0	1	59	286	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	59	284	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A6	57084	broad.mit.edu	37	11	22381043	22381043	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22381043C>A	ENST00000263160.3	+	4	980	c.543C>A	c.(541-543)atC>atA	p.I181I	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6			50					GATGTGTCATCTTTGTCAGAA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000263160.3	1	1	hg19	CCDS7856.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	1	0	1	36	216	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	36	210	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
GAS2	2620	broad.mit.edu	37	11	22696559	22696559	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22696559A>G	ENST00000454584.2	+	2	449	c.144A>G	c.(142-144)ttA>ttG	p.L48L	GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Splice_Site_p.L48L|GAS2_ENST00000433790.1_Splice_Site_p.L48L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2			24					CCAATCTATTAGGTAAGGTTA	0.393000																								0							SO:0001630	splice_region_variant			ENST00000454584.2	1	0	hg19	CCDS7858.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	1	0	1	33	159	0	43	0	1.457727e-01	0	4	0	43	2		0	0	0	0	0	2	1	1	33	154	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
GAS2	2620	broad.mit.edu	37	11	22747968	22747968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22747968C>T	ENST00000454584.2	+	4	703	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GAS2_ENST00000278187.3_Missense_Mutation_p.S133L|GAS2_ENST00000433790.1_Missense_Mutation_p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2			24					CTATTTGAATCGGAAGGTTTG	0.383000																								0							SO:0001583	missense			ENST00000454584.2	1	1	hg19	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131593	0.56828	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;T;D;D;D;D	0.94537	-3.45;-3.45;0.99;-3.45;-3.45;-3.45;-3.45	5.74	4.83	0.62350	Calponin homology domain (5);	0.131423	0.53938	D	0.000051	D	0.97526	0.9190	M	0.91140	3.18	0.58432	D	0.999995	D	0.67145	0.996	P	0.62491	0.903	D	0.98276	1.0506	10	0.72032	D	0.01	-10.6063	16.8958	0.86100	0.0:0.8719:0.1281:0.0	.	133	O43903	GAS2_HUMAN	L	133	ENSP00000432584:S133L;ENSP00000401145:S133L;ENSP00000434478:S133L;ENSP00000278187:S133L;ENSP00000433182:S133L;ENSP00000435946:S133L;ENSP00000396708:S133L	ENSP00000278187:S133L	S	+	2	0	GAS2	22704544	1.000000	0.71417	0.893000	0.35052	0.053000	0.15095	7.818000	0.86416	1.422000	0.47177	-0.172000	0.13284	TCG		TCGA-IB-7651-01A-11D-2154-08	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	1	0	1	84	375	0	74	0	1.580079e-01	0	4	0	74	2		0	0	0	0	0	2	1	1	82	366	0	74	2								-3.110208	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAS2	2620	broad.mit.edu	37	11	22777449	22777449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22777449C>T	ENST00000454584.2	+	7	978	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GAS2_ENST00000278187.3_Missense_Mutation_p.R225W|GAS2_ENST00000433790.1_Missense_Mutation_p.R225W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2			24					CTGTGTGGAGCGGCTCTCCCA	0.398000																								0							SO:0001583	missense			ENST00000454584.2	1	1	hg19	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073711	0.76415	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.51071	0.72;0.72;0.72	5.61	1.2	0.21068	Growth-arrest-specific protein 2 domain (5);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.70595	2.14	0.53688	D	0.999979	D	0.89917	1.0	D	0.75020	0.985	T	0.68401	-0.5418	10	0.87932	D	0	-13.4615	15.0604	0.71947	0.6008:0.3992:0.0:0.0	.	225	O43903	GAS2_HUMAN	W	225	ENSP00000401145:R225W;ENSP00000278187:R225W;ENSP00000396708:R225W	ENSP00000278187:R225W	R	+	1	2	GAS2	22734025	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	1.064000	0.30579	-0.059000	0.13154	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	1	0	1	38	175	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1	38	171	0	51	2								-3.082184	1	1	121406	1	26	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CD81	975	broad.mit.edu	37	11	2415352	2415352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2415352C>A	ENST00000263645.5	+	3	465	c.209C>A	c.(208-210)gCt>gAt	p.A70D	CD81_ENST00000526072.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule			5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)			GCTGTGGGCGCTGTCATGATG	0.652000																								0							SO:0001583	missense			ENST00000263645.5	1	1	hg19	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466384|4.466384	0.84425|0.84425	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252;ENST00000481687|ENST00000464784	T;T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45|.	3.67|3.67	3.67|3.67	0.42095|0.42095	Tetraspanin, conserved site (1);|.	0.060633|.	0.64402|.	D|.	0.000004|.	D|D	0.85535|0.85535	0.5719|0.5719	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.989|.	D|D	0.89969|0.89969	0.4092|0.4092	10|5	0.87932|.	D|.	0|.	.|.	14.4788|14.4788	0.67564|0.67564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108;70|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	D|M	70;65;59;62;108;63;76|55	ENSP00000263645:A70D;ENSP00000435633:A65D;ENSP00000433767:A59D;ENSP00000432497:A62D;ENSP00000370424:A108D;ENSP00000432249:A63D;ENSP00000432033:A76D|.	ENSP00000263645:A70D|.	A|L	+|+	2|1	0|2	CD81|CD81	2371928|2371928	0.995000|0.995000	0.38212|0.38212	0.978000|0.978000	0.43139|0.43139	0.837000|0.837000	0.47467|0.47467	4.170000|4.170000	0.58229|0.58229	2.079000|2.079000	0.62486|0.62486	0.462000|0.462000	0.41574|0.41574	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	0	0	0	10	326	0	47	1	1	65	3196	0	47	2		0	0	0	0	0	2	1	9.968991e-01	10	324	0	47	2								-10.373670	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.360000	0.180000	1.000000	0.350000	0.402647	0.360000	0	2.600000e-01	5.100000e-01
TRPM5	29850	broad.mit.edu	37	11	2432869	2432869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2432869C>T	ENST00000155858.6	-	17	2611	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TRPM5_ENST00000452833.1_Missense_Mutation_p.R870H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5			23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)			GCTCACCATGCGCTCTACCAC	0.662000													NSCLC(1;49 61 17205 18850 43201)											0							SO:0001583	missense			ENST00000155858.6	1	1	hg19	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662312	0.67700	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	3.88	3.88	0.44766	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	L	0.58669	1.825	0.46203	D	0.998928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.99	T	0.80111	-0.1519	10	0.87932	D	0	-17.9194	9.5894	0.39537	0.0:0.8985:0.0:0.1015	.	868;870;868	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	862;868;870;868;868;868	ENSP00000434383:R862H;ENSP00000155858:R868H;ENSP00000387965:R870H;ENSP00000434121:R868H;ENSP00000436809:R868H	ENSP00000155858:R868H	R	-	2	0	TRPM5	2389445	0.974000	0.33945	0.946000	0.38457	0.592000	0.36648	3.638000	0.54332	2.120000	0.65058	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	1	0	1	74	377	0	100	0	2.759355e-02	0	2	0	100	2		0	0	0	0	0	2	1	1	74	366	0	99	2								-20.000000	1	1	121322	3	34	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM5	29850	broad.mit.edu	37	11	2436266	2436266	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2436266C>T	ENST00000155858.6	-	10	1499	c.1491G>A	c.(1489-1491)ccG>ccA	p.P497P	TRPM5_ENST00000452833.1_Silent_p.P499P|TRPM5_ENST00000528453.1_Silent_p.P497P|TRPM5_ENST00000533060.1_Silent_p.P497P	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5			23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)			GCCGCTTGGCCGGGCCCTTCT	0.726000													NSCLC(1;49 61 17205 18850 43201)											0							SO:0001819	synonymous_variant			ENST00000155858.6	1	1	hg19	CCDS31340.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	1	0	0	18	152	0	25	0	1.262375e-02	0	2	0	25	2		0	0	0	0	0	2	1	9.999853e-01	17	151	0	22	2								-8.499248	1	1	120004	10	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.780000	1.000000	1.000000	0.981818	0.990000	1	9.900000e-01	1
KCNQ1	3784	broad.mit.edu	37	11	2606516	2606516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2606516G>A	ENST00000155840.5	+	8	1215	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	KCNQ1_ENST00000335475.5_Silent_p.P242P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1			21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		Bepridil(DB01244)|Indapamide(DB00808)	GGCAGATCCCGGCGGCAGCCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000155840.5	1	1	hg19	CCDS7736.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	1	0	0	20	388	0	77	1	9.926594e-01	9	145	0	77	2		0	0	0	0	0	2	1	9.999950e-01	20	383	0	77	2								-3.001665	1	1	121408	5	37	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.590000	0.370000	1.000000	0.570000	0.613199	0.590000	0	4.700000e-01	7.400000e-01
ANO3	63982	broad.mit.edu	37	11	26463513	26463513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26463513C>T	ENST00000256737.3	+	2	947	c.95C>T	c.(94-96)cCg>cTg	p.P32L	ANO3_ENST00000537978.1_Missense_Mutation_p.P16L|ANO3_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3			68					TCGTTAAAACCGTCTCGGAGA	0.428000																								0							SO:0001583	missense			ENST00000256737.3	1	1	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439921	0.63067	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	N	0.19112	0.55	0.58432	D	0.999996	D	0.52996	0.957	B	0.41440	0.357	T	0.53865	-0.8378	10	0.49607	T	0.09	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	32	Q9BYT9	ANO3_HUMAN	L	16;16;32;32	ENSP00000440737:P16L;ENSP00000432576:P16L;ENSP00000256737:P32L;ENSP00000435275:P32L	ENSP00000256737:P32L	P	+	2	0	ANO3	26420089	0.995000	0.38212	0.981000	0.43875	0.633000	0.38033	4.172000	0.58243	2.831000	0.97527	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1	153	722	0	158	0	0	0	1	0	158	2		0	0	0	0	0	2	1	1	145	707	0	155	2								-2.855727	1	1	121412	1	34	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO3	63982	broad.mit.edu	37	11	26465342	26465342	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26465342T>C	ENST00000256737.3	+	3	1124	c.272T>C	c.(271-273)gTg>gCg	p.V91A	ANO3_ENST00000537978.1_Missense_Mutation_p.V75A|ANO3_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3			68					AACGACTCTGTGCTGAGATGT	0.343000																								0							SO:0001583	missense			ENST00000256737.3	1	1	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	9.893	1.204778	0.22205	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.72	0.836	0.18891	.	1.510040	0.03809	N	0.265637	T	0.40015	0.1100	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18272	-1.0342	10	0.05436	T	0.98	.	1.4041	0.02276	0.1765:0.1035:0.183:0.5369	.	91	Q9BYT9	ANO3_HUMAN	A	75;75;91;91	ENSP00000440737:V75A;ENSP00000432576:V75A;ENSP00000256737:V91A;ENSP00000435275:V91A	ENSP00000256737:V91A	V	+	2	0	ANO3	26421918	0.209000	0.23505	0.021000	0.16686	0.037000	0.13140	0.943000	0.29030	0.024000	0.15214	0.482000	0.46254	GTG		TCGA-IB-7651-01A-11D-2154-08	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1	16	76	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	9.999612e-01	16	76	0	37	2								-11.819260	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999553	0.990000	1	9.900000e-01	1
ANO3	63982	broad.mit.edu	37	11	26574818	26574818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26574818G>A	ENST00000256737.3	+	13	2164	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ANO3_ENST00000531568.1_Missense_Mutation_p.E292K|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000529242.1_3'UTR	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3			68					TAAAGCCACTGAAGTCTTTAT	0.423000																								0							SO:0001583	missense			ENST00000256737.3	1	1	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859210	0.51376	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.41	5.59	4.62	0.57501	.	0.112278	0.64402	D	0.000011	T	0.64907	0.2641	N	0.21508	0.67	0.44030	D	0.99675	B;B	0.32467	0.372;0.372	B;B	0.42959	0.209;0.403	T	0.62201	-0.6904	10	0.29301	T	0.29	.	15.9344	0.79691	0.0:0.1352:0.8648:0.0	.	340;438	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	422;422;438;340;292	ENSP00000440737:E422K;ENSP00000432576:E422K;ENSP00000256737:E438K;ENSP00000432394:E292K	ENSP00000256737:E438K	E	+	1	0	ANO3	26531394	1.000000	0.71417	0.974000	0.42286	0.980000	0.70556	4.229000	0.58625	2.633000	0.89246	0.637000	0.83480	GAA		TCGA-IB-7651-01A-11D-2154-08	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1	227	1021	0	241		0	0	0	0	241	2		0	0	0	0	0	2	1	1	221	986	0	239	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC15	143662	broad.mit.edu	37	11	26582721	26582721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26582721G>T	ENST00000455601.2	-	4	1014	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.S326Y|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated			25					GTAGTAGCTAGAATTCCCAAA	0.383000																								0							SO:0001583	missense			ENST00000455601.2	1	1	hg19	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867333	0.72065	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.28255	1.64;1.62;1.63;1.62;1.63	5.43	5.43	0.79202	.	0.000000	0.49305	D	0.000143	T	0.43055	0.1230	L	0.32530	0.975	0.32851	D	0.506659	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74023	0.982;0.948;0.971	T	0.53486	-0.8432	10	0.72032	D	0.01	-17.9456	12.5049	0.55975	0.0811:0.0:0.9189:0.0	.	276;299;326	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	Y	299;326;276;326;276	ENSP00000397339:S299Y;ENSP00000416753:S326Y;ENSP00000281268:S276Y;ENSP00000431983:S326Y;ENSP00000431945:S276Y	ENSP00000281268:S276Y	S	-	2	0	MUC15	26539297	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.813000	0.55636	2.708000	0.92522	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	1	0	1	52	189	0	49	0	4.708002e-01	0	7	0	49	2		0	0	0	0	0	2	1	1	52	186	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO3	63982	broad.mit.edu	37	11	26619917	26619917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619917G>T	ENST00000256737.3	+	15	2305	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	ANO3_ENST00000531568.1_Missense_Mutation_p.V339F|ANO3_ENST00000537978.1_Missense_Mutation_p.V469F|ANO3_ENST00000525139.1_Missense_Mutation_p.V469F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3			68					TATAGCCACAGTCTTCCTGGA	0.318000																								0							SO:0001583	missense			ENST00000256737.3	1	1	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723830	0.68959	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	L	0.45137	1.4	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.73708	0.981;0.667	T	0.72659	-0.4226	10	0.45353	T	0.12	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	387;485	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	F	469;469;485;387;339	ENSP00000440737:V469F;ENSP00000432576:V469F;ENSP00000256737:V485F;ENSP00000432394:V339F	ENSP00000256737:V485F	V	+	1	0	ANO3	26576493	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1	74	351	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	70	347	0	82	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO3	63982	broad.mit.edu	37	11	26619977	26619977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619977G>A	ENST00000256737.3	+	15	2365	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ANO3_ENST00000531568.1_Missense_Mutation_p.E359K|ANO3_ENST00000537978.1_Missense_Mutation_p.E489K|ANO3_ENST00000525139.1_Missense_Mutation_p.E489K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3			68					GGACCTTATCGAATGGGAAGA	0.393000																								0							SO:0001583	missense			ENST00000256737.3	1	1	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035474	0.75617	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.64	5.64	0.86602	.	0.046152	0.85682	D	0.000000	T	0.47469	0.1447	N	0.08118	0	0.53005	D	0.999965	B;B	0.20671	0.028;0.047	B;B	0.19391	0.01;0.025	T	0.44065	-0.9352	10	0.59425	D	0.04	.	19.703	0.96063	0.0:0.0:1.0:0.0	.	407;505	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	489;489;505;407;359	ENSP00000440737:E489K;ENSP00000432576:E489K;ENSP00000256737:E505K;ENSP00000432394:E359K	ENSP00000256737:E505K	E	+	1	0	ANO3	26576553	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.033000	0.93741	2.660000	0.90430	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1	81	382	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	80	372	1	95	17								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO3	63982	broad.mit.edu	37	11	26620437	26620437	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620437T>G	ENST00000256737.3	+	16	2415	c.1563T>G	c.(1561-1563)taT>taG	p.Y521*	ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3			68					AAGCCAAGTATTACAAGATGG	0.393000																								0							SO:0001587	stop_gained			ENST00000256737.3	0	1	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	39	7.774718	0.98483	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.98	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8325	0.35093	0.0:0.272:0.0:0.728	.	.	.	.	X	505;505;521;423;375	.	ENSP00000256737:Y521X	Y	+	3	2	ANO3	26577013	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.019000	0.30014	0.152000	0.19188	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1	22	139	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	9.999990e-01	22	135	0	44	2								-12.404620	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998901	0.990000	1	9.900000e-01	1
ANO3	63982	broad.mit.edu	37	11	26669283	26669283	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26669283T>C	ENST00000256737.3	+	24	3308	c.2456T>C	c.(2455-2457)aTc>aCc	p.I819T	ANO3_ENST00000531568.1_Missense_Mutation_p.I673T|ANO3_ENST00000537978.1_Missense_Mutation_p.I803T|ANO3_ENST00000525139.1_Missense_Mutation_p.I803T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3			68					CTCGAAGGAATCGGTATATTG	0.348000																								0							SO:0001583	missense			ENST00000256737.3	1	1	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742311	0.69418	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.49	5.49	0.81192	.	0.047425	0.85682	D	0.000000	D	0.84710	0.5532	M	0.89968	3.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.78314	0.986;0.991	D	0.88120	0.2831	10	0.87932	D	0	.	15.2657	0.73660	0.0:0.0:0.0:1.0	.	721;819	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	803;803;819;721;673	ENSP00000440737:I803T;ENSP00000432576:I803T;ENSP00000256737:I819T;ENSP00000432394:I673T	ENSP00000256737:I819T	I	+	2	0	ANO3	26625859	1.000000	0.71417	0.959000	0.39883	0.556000	0.35491	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1	67	331	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	66	327	0	80	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BDNF	627	broad.mit.edu	37	11	27679922	27679922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27679922C>T	ENST00000525528.1	-	1	1283	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor			6					ATCACGTGTTCGAAAGTGTCA	0.532000																								0							SO:0001583	missense			ENST00000525528.1	1	1	hg19	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446234	0.63178	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.995;0.992;0.995	D;D;D;D;D	0.85130	0.997;0.919;0.97;0.935;0.97	T	0.80056	-0.1542	10	0.87932	D	0	-18.7903	20.8598	0.99761	0.0:1.0:0.0:0.0	.	93;146;72;64;79	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	K	64;64;79;64;64;64;64;64;64;146;64;64;64;64;64;72;64;64	ENSP00000389345:E64K;ENSP00000437138:E64K;ENSP00000379309:E79K;ENSP00000432727:E64K;ENSP00000349084:E64K;ENSP00000400502:E64K;ENSP00000432376:E64K;ENSP00000435564:E64K;ENSP00000379307:E64K;ENSP00000414303:E146K;ENSP00000379304:E64K;ENSP00000435805:E64K;ENSP00000379305:E64K;ENSP00000379302:E64K;ENSP00000432035:E64K;ENSP00000320002:E72K;ENSP00000389564:E64K	ENSP00000320002:E72K	E	-	1	0	BDNF	27636498	1.000000	0.71417	0.991000	0.47740	0.874000	0.50279	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	1	0	1	137	656	0	154	1	8.816403e-01	3	17	0	154	2		0	0	0	0	0	2	1	1	136	640	0	153	2								-3.331031	1	1	121412	2	36	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATHL1	80162	broad.mit.edu	37	11	290822	290822	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:290822C>T	ENST00000409548.2	+	4	730	c.615C>T	c.(613-615)ggC>ggT	p.G205G	RP11-326C3.2_ENST00000525217.1_RNA|ATHL1_ENST00000409655.1_Silent_p.G28G|ATHL1_ENST00000409479.1_Silent_p.G205G|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)			17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			CAGCAGTGGGCGGCAGCCAGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000409548.2	1	1	hg19	CCDS31322.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	1	0	1	74	259	0	61	1	9.957697e-01	10	22	0	61	2		0	0	0	0	0	2	1	1	73	256	0	61	2								-4.056471	1	1	121326	1	35	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNA4	3739	broad.mit.edu	37	11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4			78				Dalfampridine(DB06637)	ATACTCATTGCGCAAAGGGTC	0.478000																								0							SO:0001583	missense			ENST00000328224.6	1	1	hg19	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410513	0.83340	.	.	ENSG00000182255	ENST00000328224	T	0.77358	-1.09	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.84156	2.68	0.80722	D	1	D	0.69078	0.997	P	0.49332	0.607	D	0.87784	0.2614	10	0.72032	D	0.01	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	216	P22459	KCNA4_HUMAN	H	216	ENSP00000328511:R216H	ENSP00000328511:R216H	R	-	2	0	KCNA4	29990155	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	1	0	1	71	285	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	70	281	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNA4	3739	broad.mit.edu	37	11	30033811	30033811	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033811T>G	ENST00000328224.6	-	2	1648	c.415A>C	c.(415-417)Agg>Cgg	p.R139R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4			78				Dalfampridine(DB06637)	TAGTAAAACCTTCcctcctct	0.552000																								0							SO:0001819	synonymous_variant			ENST00000328224.6	1	1	hg19	CCDS41629.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	1	0	1	41	217	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	41	211	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
KCNA4	3739	broad.mit.edu	37	11	30033990	30033990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033990C>T	ENST00000328224.6	-	2	1469	c.236G>A	c.(235-237)aGc>aAc	p.S79N	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4			78				Dalfampridine(DB06637)	ACTACCCCGGCTGCTCTGAGG	0.652000																								0							SO:0001583	missense			ENST00000328224.6	0	1	hg19	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964396	0.53507	.	.	ENSG00000182255	ENST00000328224	D	0.96967	-4.19	4.84	4.84	0.62591	.	5.024710	0.01841	U	0.035344	D	0.93785	0.8013	N	0.19112	0.55	0.52501	D	0.999956	B	0.15473	0.013	B	0.14023	0.01	T	0.63616	-0.6597	10	0.18276	T	0.48	.	17.9672	0.89102	0.0:1.0:0.0:0.0	.	79	P22459	KCNA4_HUMAN	N	79	ENSP00000328511:S79N	ENSP00000328511:S79N	S	-	2	0	KCNA4	29990566	0.994000	0.37717	0.098000	0.21074	0.950000	0.60333	3.249000	0.51437	2.239000	0.73571	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	0	0	0	13	434	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	9.994333e-01	12	420	0	77	2								-12.135710	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.350000	0.190000	1.000000	0.340000	0.388606	0.350000	0	2.600000e-01	4.800000e-01
FSHB	2488	broad.mit.edu	37	11	30255204	30255204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30255204G>A	ENST00000417547.1	+	3	286	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	FSHB_ENST00000533718.1_Missense_Mutation_p.G83S|FSHB_ENST00000254122.3_Missense_Mutation_p.G83S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	p.G83S(1)		12					GAGAGTGCCCGGCTGTGCTCA	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000417547.1	1	1	hg19	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424409	0.96111	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.84070	-1.8;-1.8;-1.8	6.17	6.17	0.99709	Cystine knot (1);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92508	0.6014	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	83	P01225	FSHB_HUMAN	S	83	ENSP00000254122:G83S;ENSP00000416606:G83S;ENSP00000433424:G83S	ENSP00000254122:G83S	G	+	1	0	FSHB	30211780	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	6.947000	0.75959	2.941000	0.99782	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	1	0	1	55	225	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	51	221	0	63	2								-20.000000	1	1	121404	1	34	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARS	833	broad.mit.edu	37	11	3059334	3059334	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3059334A>G	ENST00000397111.5	-	6	743	c.498T>C	c.(496-498)ctT>ctC	p.L166L	CARS_ENST00000278224.9_Silent_p.L166L|CARS_ENST00000380525.4_Silent_p.L249L|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397114.3_Silent_p.L156L|CARS_ENST00000401769.3_Silent_p.L179L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase		CARS/ALK(5)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		L-Cysteine(DB00151)	CAGCTTTCTCAAGTGGCTCTG	0.517000			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0							SO:0001819	synonymous_variant			ENST00000397111.5	0	1	hg19	CCDS7742.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	0	0	0	14	697	0	124	1	8.558774e-01	4	171	0	124	2		0	0	0	0	0	2	1	9.997314e-01	13	689	0	122	2								-10.608910	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.230000	0.130000	1.000000	0.230000	0.275493	0.230000	0	1.800000e-01	3.200000e-01
DCDC1	341019	broad.mit.edu	37	11	30914541	30914541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30914541G>A	ENST00000597505.1	-	34	4896	c.4897C>T	c.(4897-4899)Cac>Tac	p.H1633Y	DCDC1_ENST00000406071.2_Missense_Mutation_p.H371Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1			31	Lung SC(675;0.225)				TCAGAAAGGTGTGCCTGTCAA	0.373000																								0							SO:0001583	missense			ENST00000597505.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	12.80	2.046917	0.36085	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.94	5.03	0.67393	.	.	.	.	.	T	0.57548	0.2061	L	0.35854	1.095	0.80722	D	1	.	.	.	.	.	.	T	0.59506	-0.7442	6	0.52906	T	0.07	.	12.2274	0.54468	0.079:0.0:0.921:0.0	.	.	.	.	Y	371	.	ENSP00000385936:H371Y	H	-	1	0	DCDC5	30871117	0.052000	0.20516	0.513000	0.27749	0.668000	0.39293	1.766000	0.38491	1.533000	0.49186	0.650000	0.86243	CAC		TCGA-IB-7651-01A-11D-2154-08	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	1	0	1	82	314	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	82	311	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCDC1	341019	broad.mit.edu	37	11	30915873	30915873	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30915873C>T	ENST00000597505.1	-	33	4814	c.4815G>A	c.(4813-4815)caG>caA	p.Q1605Q	DCDC1_ENST00000406071.2_Silent_p.Q343Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1			31	Lung SC(675;0.225)				CCACCACGGGCTGCACAGGGC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000597505.1	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	1	0	1	54	286	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	1	51	282	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCDC1	341019	broad.mit.edu	37	11	30925196	30925196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30925196G>A	ENST00000597505.1	-	30	4342	c.4343C>T	c.(4342-4344)gCc>gTc	p.A1448V	DCDC1_ENST00000406071.2_Missense_Mutation_p.A183V|DCDC1_ENST00000339794.5_Missense_Mutation_p.A527V			P59894	DCDC1_HUMAN	doublecortin domain containing 1			31	Lung SC(675;0.225)				GGCTGCTCTGGCAAGCCCAAG	0.443000																								0							SO:0001583	missense			ENST00000597505.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.726	1.160896	0.21538	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	D;D	0.93307	-3.2;-3.2	5.42	3.45	0.39498	Doublecortin domain (2);	0.840570	0.10577	N	0.658408	D	0.90611	0.7056	L	0.55481	1.735	0.22034	N	0.999406	B	0.24258	0.1	B	0.24541	0.054	T	0.80897	-0.1177	10	0.38643	T	0.18	0.2236	9.4072	0.38469	0.0:0.1394:0.5725:0.2881	.	527	Q6ZRR9	DCDC5_HUMAN	V	183;527	ENSP00000385936:A183V;ENSP00000341700:A527V	ENSP00000341700:A527V	A	-	2	0	DCDC5	30881772	0.993000	0.37304	0.260000	0.24451	0.004000	0.04260	2.305000	0.43664	0.693000	0.31634	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	0	0	0	4	88	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	8.867188e-01	4	86	0	15	2								-7.470573	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.560000	0.190000	1.000000	1.000000	0.599835	0.560000	0	3.400000e-01	8.900000e-01
DCDC1	341019	broad.mit.edu	37	11	30938573	30938573	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30938573T>G	ENST00000597505.1	-	24	3295	c.3296A>C	c.(3295-3297)gAt>gCt	p.D1099A	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.D178A			P59894	DCDC1_HUMAN	doublecortin domain containing 1			31	Lung SC(675;0.225)				TACGTGTGAATCTCTATCAAG	0.408000																								0							SO:0001583	missense			ENST00000597505.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	T	15.15	2.747505	0.49257	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000030	T	0.64000	0.2559	M	0.72479	2.2	0.29768	N	0.834983	D	0.69078	0.997	P	0.61397	0.888	T	0.66424	-0.5927	9	0.54805	T	0.06	-19.8465	13.3972	0.60861	0.0:0.0:0.0:1.0	.	178	Q6ZRR9	DCDC5_HUMAN	A	178	.	ENSP00000341700:D178A	D	-	2	0	DCDC5	30895149	1.000000	0.71417	0.920000	0.36463	0.108000	0.19459	2.938000	0.48987	2.140000	0.66376	0.459000	0.35465	GAT		TCGA-IB-7651-01A-11D-2154-08	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	1	0	1	94	383	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	94	374	1	93	17								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCDC1	341019	broad.mit.edu	37	11	30942422	30942422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30942422G>A	ENST00000597505.1	-	23	3193	c.3194C>T	c.(3193-3195)cCt>cTt	p.P1065L	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.P144L			P59894	DCDC1_HUMAN	doublecortin domain containing 1			31	Lung SC(675;0.225)				AATTGCTACAGGTTTATGCAC	0.383000																								0							SO:0001583	missense			ENST00000597505.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.95	2.390640	0.42410	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.52	4.61	0.57282	.	0.110346	0.40818	N	0.001020	T	0.56366	0.1980	M	0.72479	2.2	0.36860	D	0.888351	B	0.33748	0.423	B	0.34138	0.176	T	0.63998	-0.6510	9	0.46703	T	0.11	-10.0954	11.4354	0.50064	0.0844:0.0:0.9156:0.0	.	144	Q6ZRR9	DCDC5_HUMAN	L	144	.	ENSP00000341700:P144L	P	-	2	0	DCDC5	30898998	0.740000	0.28207	0.743000	0.31040	0.024000	0.10985	0.966000	0.29331	1.343000	0.45638	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	0	0	0	6	91	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	9.654478e-01	6	90	0	23	2								-4.865649	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.770000	0.320000	1.000000	1.000000	0.758877	0.770000	0	5.100000e-01	1
DCDC1	341019	broad.mit.edu	37	11	31115709	31115709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31115709T>C	ENST00000597505.1	-	14	2005	c.2006A>G	c.(2005-2007)cAt>cGt	p.H669R	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1			31	Lung SC(675;0.225)				AACAGAGGCATGAAGGACAAT	0.433000																								0							SO:0001583	missense			ENST00000597505.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	0	0	0	66	282	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	66	278	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL5	114879	broad.mit.edu	37	11	3128610	3128610	+	Silent	SNP	G	G	A	rs144743928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3128610G>A	ENST00000263650.7	-	9	1101	c.942C>T	c.(940-942)acC>acT	p.T314T	OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000348039.5_Silent_p.T246T|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Silent_p.T246T	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5			25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)			CCTGGGTCTCGGTATCTGACT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000263650.7	1	1	hg19	CCDS31344.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2	1	0	1	220	937	0	194	1	1	23	154	0	194	2		0	0	0	0	0	2	1	1	215	924	0	192	2								-2.544324	1	1	121412	7	45	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCDC1	341019	broad.mit.edu	37	11	31312288	31312288	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31312288A>C	ENST00000452803.1	-	7	1067	c.866T>G	c.(865-867)cTt>cGt	p.L289R	DCDC1_ENST00000597505.1_Missense_Mutation_p.L289R	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1			31	Lung SC(675;0.225)				CCTCTCAGTAAGTTTCTTCAT	0.378000																								0							SO:0001583	missense			ENST00000452803.1	1	1	hg19	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436480	0.62955	.	.	ENSG00000188682	ENST00000452803	D	0.93659	-3.26	5.26	4.06	0.47325	Doublecortin domain (1);	0.000000	0.44902	D	0.000419	D	0.94095	0.8107	M	0.72894	2.215	0.27403	N	0.954804	D	0.59357	0.985	P	0.53760	0.734	D	0.89469	0.3742	10	0.87932	D	0	-21.493	10.7159	0.46013	0.8585:0.0:0.0:0.1415	.	289	P59894	DCDC1_HUMAN	R	289	ENSP00000389792:L289R	ENSP00000389792:L289R	L	-	2	0	DCDC1	31268864	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.673000	0.46858	2.105000	0.64084	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	1	0	0	26	301	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.999999e-01	26	294	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.940000	0.630000	1.000000	1.000000	0.908286	0.940000	1	7.800000e-01	1
MRGPRE	116534	broad.mit.edu	37	11	3249343	3249343	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249343G>A	ENST00000389832.5	-	2	993	c.687C>T	c.(685-687)tgC>tgT	p.C229C	MRGPRE_ENST00000436689.2_Silent_p.C228C|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E			19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)			AGGGCAGGCCGCAGAAGAGGA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000389832.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	1	0	1	14	51	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.998516e-01	14	50	0	12	2								-20.000000	1	1	120618	1	31	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999792	0.990000	1	9.900000e-01	1
MRGPRE	116534	broad.mit.edu	37	11	3249838	3249838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249838G>A	ENST00000389832.5	-	2	498	c.192C>T	c.(190-192)gaC>gaT	p.D64D	MRGPRE_ENST00000436689.2_Silent_p.D63D|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E			19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)			CGCAGGCCACGTCCAGGAGGT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000389832.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	1	0	1	104	493	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1	102	483	0	111	2								-20.000000	1	1	121118	4	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC73	493860	broad.mit.edu	37	11	32635356	32635356	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635356C>A	ENST00000335185.5	-	16	2551	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73			51	Breast(20;0.112)				ACAATGTATGCTGTCTTTCAT	0.328000																								0							SO:0001583	missense			ENST00000335185.5	1	1	hg19	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569548	0.45798	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	1.16	0.20824	.	0.698226	0.13701	N	0.368828	T	0.32376	0.0827	L	0.59436	1.845	0.09310	N	1	B	0.25743	0.133	B	0.21917	0.037	T	0.39313	-0.9620	9	0.72032	D	0.01	.	1.192	0.01867	0.179:0.424:0.1191:0.278	.	836	Q6ZRK6	CCD73_HUMAN	H	836	.	ENSP00000335325:Q836H	Q	-	3	2	CCDC73	32591932	0.765000	0.28485	0.111000	0.21465	0.987000	0.75469	0.274000	0.18680	-0.055000	0.13244	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	1	0	1	112	524	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	111	519	0	119	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC73	493860	broad.mit.edu	37	11	32635397	32635397	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635397T>G	ENST00000335185.5	-	16	2510	c.2467A>C	c.(2467-2469)Aaa>Caa	p.K823Q	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73			51	Breast(20;0.112)				AGGTCATTTTTTGTGGCTTCA	0.323000																								0							SO:0001583	missense			ENST00000335185.5	1	1	hg19	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578306	0.45902	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.64	3.16	0.36331	.	0.549721	0.17406	N	0.175351	T	0.26085	0.0636	L	0.40543	1.245	0.09310	N	0.999998	P	0.40431	0.717	B	0.37198	0.243	T	0.09684	-1.0663	9	0.45353	T	0.12	.	7.0619	0.25131	0.0:0.0767:0.1469:0.7764	.	823	Q6ZRK6	CCD73_HUMAN	Q	823	.	ENSP00000335325:K823Q	K	-	1	0	CCDC73	32591973	0.380000	0.25131	0.064000	0.19789	0.885000	0.51271	1.191000	0.32138	0.918000	0.36919	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	0	0	1	99	455	0	110	0	0	0	1	0	110	2		0	0	0	0	0	2	1	1	99	444	0	109	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QSER1	79832	broad.mit.edu	37	11	32955888	32955888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32955888G>A	ENST00000399302.2	+	4	3032	c.2697G>A	c.(2695-2697)gtG>gtA	p.V899V	QSER1_ENST00000527788.1_Silent_p.V660V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1			48	Breast(20;0.158)				TCAGGCATGTGACTTCAGATT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000399302.2	1	1	hg19	CCDS41631.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	1	0	1	61	285	0	83	1	9.866400e-01	4	30	0	83	2		0	0	0	0	0	2	1	1	60	281	0	81	2								-3.386347	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QSER1	79832	broad.mit.edu	37	11	32956758	32956758	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32956758C>A	ENST00000399302.2	+	4	3902	c.3567C>A	c.(3565-3567)ccC>ccA	p.P1189P	QSER1_ENST00000527788.1_Silent_p.P950P	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1			48	Breast(20;0.158)				CATTTTGTCCCCCACCACTTC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000399302.2	1	1	hg19	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.495042	0.01009	.	.	ENSG00000060749	ENST00000524678	T	0.37752	1.18	5.31	2.36	0.29203	.	0.177489	0.38548	N	0.001651	T	0.32376	0.0827	.	.	.	0.49915	D	0.99983	.	.	.	.	.	.	T	0.08973	-1.0696	7	0.37606	T	0.19	.	2.5447	0.04734	0.3181:0.4219:0.1144:0.1456	.	.	.	.	H	210	ENSP00000432136:P210H	ENSP00000432136:P210H	P	+	2	0	QSER1	32913334	0.087000	0.21565	0.998000	0.56505	0.227000	0.25037	-0.313000	0.08103	0.605000	0.29947	-0.373000	0.07131	CCC		TCGA-IB-7651-01A-11D-2154-08	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	1	0	1	104	414	0	110	1	9.902747e-01	3	28	0	110	2		0	0	0	0	0	2	1	1	103	404	0	109	2								-2.873143	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QSER1	79832	broad.mit.edu	37	11	32979504	32979504	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32979504C>A	ENST00000399302.2	+	8	4789	c.4454C>A	c.(4453-4455)cCc>cAc	p.P1485H	QSER1_ENST00000527788.1_Missense_Mutation_p.P1246H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1			48	Breast(20;0.158)				TCCGTGAAACCCAAAGTTAAA	0.403000																								0							SO:0001583	missense			ENST00000399302.2	0	1	hg19	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497872|4.497872	0.85069|0.85069	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|T	0.33865|0.39787	1.72;1.39|1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.090600|0.090600	0.47455|0.47455	D|D	0.000238|0.000238	T|T	0.60038|0.60038	0.2238|0.2238	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.74348|.	0.983;0.971;0.936|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|8	0.87932|0.56958	D|D	0|0.05	.|.	20.2861|20.2861	0.98535|0.98535	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1246;1246;1485|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	H|T	1485;1246;1246|506	ENSP00000382241:P1485H;ENSP00000432766:P1246H|ENSP00000432136:P506T	ENSP00000078652:P1246H|ENSP00000432136:P506T	P|P	+|+	2|1	0|0	QSER1|QSER1	32936080|32936080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	6.838000|6.838000	0.75359|0.75359	2.786000|2.786000	0.95864|0.95864	0.650000|0.650000	0.86243|0.86243	CCC|CCA		TCGA-IB-7651-01A-11D-2154-08	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	0	0	0	8	303	0	59	0	4.483028e-01	1	53	0	59	2		0	0	0	0	0	2	1	9.887477e-01	7	298	0	59	2								-8.419546	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.320000	0.140000	1.000000	0.300000	0.359805	0.320000	0	2.200000e-01	4.600000e-01
QSER1	79832	broad.mit.edu	37	11	32987888	32987888	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32987888C>T	ENST00000399302.2	+	9	4960	c.4625C>T	c.(4624-4626)aCa>aTa	p.T1542I	QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1			48	Breast(20;0.158)				TTTTTGAACACAAGAGCAATG	0.408000																								0							SO:0001583	missense			ENST00000399302.2	1	1	hg19	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.001792|5.001792	0.93227|0.93227	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.50001	.|0.76;0.76	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	.|T	.|0.68586	.|0.3017	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.997;0.999	.|T	.|0.70230	.|-0.4929	.|10	.|0.87932	.|D	.|0	.|.	19.6126|19.6126	0.95616|0.95616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1303;1303;1542	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	X|I	563|1542;1303;1303	.|ENSP00000382241:T1542I;ENSP00000432766:T1303I	.|ENSP00000078652:T1303I	Q|T	+|+	1|2	0|0	QSER1|QSER1	32944464|32944464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.980000|6.980000	0.76160|0.76160	2.630000|2.630000	0.89119|0.89119	0.591000|0.591000	0.81541|0.81541	CAA|ACA		TCGA-IB-7651-01A-11D-2154-08	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	1	0	1	87	413	0	103	1	9.984751e-01	10	38	0	103	2		0	0	0	0	0	2	1	1	85	404	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSTF3	1479	broad.mit.edu	37	11	33117913	33117913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33117913T>G	ENST00000323959.4	-	15	1453	c.1314A>C	c.(1312-1314)aaA>aaC	p.K438N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa			19					CTCCATATTTTTTTAGCCCCA	0.328000																								0							SO:0001583	missense			ENST00000323959.4	1	1	hg19	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543059	0.65198	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.91	3.7	0.42460	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.90082	3.085	0.80722	D	1	P	0.51449	0.945	P	0.58331	0.837	T	0.69873	-0.5027	10	0.59425	D	0.04	.	12.8672	0.57946	0.0:0.7925:0.0:0.2075	.	438	Q12996	CSTF3_HUMAN	N	438;371	ENSP00000315791:K438N	ENSP00000315791:K438N	K	-	3	2	CSTF3	33074489	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.501000	0.35693	1.478000	0.48253	-0.467000	0.05162	AAA		TCGA-IB-7651-01A-11D-2154-08	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	1	0	1	76	303	0	61	1	9.998732e-01	13	42	0	61	2		0	0	0	0	0	2	1	1	72	304	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSTF3	1479	broad.mit.edu	37	11	33123884	33123884	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33123884T>G	ENST00000323959.4	-	10	804	c.665A>C	c.(664-666)gAa>gCa	p.E222A	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa			19					TGTCTCATATTCCTAGACAAC	0.433000																								0							SO:0001630	splice_region_variant			ENST00000323959.4	1	0	hg19	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779812	0.70222	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36878	1.23	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.56199	1.76	0.80722	D	1	B	0.20780	0.048	B	0.26202	0.067	T	0.13255	-1.0516	10	0.40728	T	0.16	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	222	Q12996	CSTF3_HUMAN	A	222;155	ENSP00000315791:E222A	ENSP00000315791:E222A	E	-	2	0	CSTF3	33080460	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.035000	0.88872	2.205000	0.71048	0.482000	0.46254	GAA		TCGA-IB-7651-01A-11D-2154-08	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	1	0	1	68	173	0	42	1	9.999997e-01	15	47	0	42	2		0	0	0	0	0	2	1	1	65	169	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIPK3	10114	broad.mit.edu	37	11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3			39					ATAAAAGGACGATCTGCCCCT	0.378000																								0							SO:0001583	missense			ENST00000303296.4	1	1	hg19	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880365	0.33162	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.62	4.7	0.59300	.	0.145914	0.31872	N	0.006928	T	0.28267	0.0698	N	0.14661	0.345	0.49483	D	0.999795	B;B	0.14805	0.011;0.006	B;B	0.16289	0.015;0.006	T	0.08493	-1.0719	10	0.07325	T	0.83	.	13.6209	0.62136	0.0754:0.0:0.9246:0.0	.	1004;1025	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Q	1004;1025;1004;1004	ENSP00000431710:R1004Q;ENSP00000304226:R1025Q;ENSP00000368301:R1004Q;ENSP00000398241:R1004Q	ENSP00000304226:R1025Q	R	+	2	0	HIPK3	33330290	1.000000	0.71417	0.617000	0.29091	0.818000	0.46254	4.652000	0.61454	1.359000	0.45940	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	1	0	1	183	788	0	140	1	1	32	151	0	140	2		0	0	0	0	0	2	1	1	182	776	0	138	2								-3.411143	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD59	966	broad.mit.edu	37	11	33739011	33739011	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33739011C>A	ENST00000395850.3	-	3	149	c.74G>T	c.(73-75)aGc>aTc	p.S25I	CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000426650.2_Missense_Mutation_p.S25I|CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000533403.1_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein			3					GCACTGCAGGCTATGACCTAG	0.473000																								0							SO:0001583	missense			ENST00000395850.3	1	1	hg19	CCDS7886.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259715	0.59321	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;D	0.94650	-3.41;-3.48;-1.61	3.99	2.04	0.26737	.	0.707573	0.14322	N	0.326929	D	0.95909	0.8668	M	0.78049	2.395	0.09310	N	1	D;D	0.65815	0.995;0.985	P;P	0.59221	0.854;0.832	D	0.89626	0.3852	10	0.87932	D	0	-1.362	10.224	0.43214	0.0:0.6059:0.3941:0.0	.	25;25	E9PI80;P13987	.;CD59_HUMAN	I	25	ENSP00000432362:S25I;ENSP00000437122:S25I;ENSP00000436737:S25I	ENSP00000340210:S25I	S	-	2	0	CD59	33695587	0.008000	0.16893	0.053000	0.19242	0.344000	0.29017	0.941000	0.29005	0.603000	0.29913	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	1	0	1	15	100	0	31	1	1	369	2653	0	31	2		0	0	0	0	0	2	1	9.999037e-01	15	99	0	31	2								-19.999910	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.910000	1.000000	1.000000	0.994692	0.990000	1	9.900000e-01	1
ZNF195	7748	broad.mit.edu	37	11	3380552	3380552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380552G>A	ENST00000399602.4	-	6	1812	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	ZNF195_ENST00000526601.1_Silent_p.F543F|ZNF195_ENST00000354599.6_Silent_p.F490F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.F494F|ZNF195_ENST00000005082.9_Silent_p.F539F|ZNF195_ENST00000429541.2_Silent_p.F494F	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195			17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)			TAATGTCTGAGAACCACATGA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000399602.4	1	0	hg19	CCDS44522.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2	1	0	0	98	405	0	120	1	9.998436e-01	14	41	0	120	2		0	0	0	0	0	2	1	1	97	399	0	120	2								-3.190623	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF195	7748	broad.mit.edu	37	11	3380642	3380642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380642G>A	ENST00000399602.4	-	6	1722	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000354599.6_Silent_p.T460T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.T464T|ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000429541.2_Silent_p.T464T	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195			17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)			TGGAGGACTGGGTAAAGTTTT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000399602.4	1	1	hg19	CCDS44522.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2	1	0	0	57	642	0	130	1	8.957060e-01	3	43	0	130	2		0	0	0	0	0	2	1	1	56	626	0	130	2								-2.716734	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.960000	0.740000	1.000000	1.000000	0.937443	0.960000	1	8.400000e-01	1
ZNF195	7748	broad.mit.edu	37	11	3381120	3381120	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381120T>G	ENST00000399602.4	-	6	1244	c.1118A>C	c.(1117-1119)cAg>cCg	p.Q373P	ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000354599.6_Missense_Mutation_p.Q301P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195			17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)			AAGAATCATCTGTTGATTAGA	0.423000																								0							SO:0001583	missense			ENST00000399602.4	1	1	hg19	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	t	10.45	1.354863	0.24512	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	0.501	0.501	0.16925	.	.	.	.	.	T	0.36524	0.0970	M	0.82823	2.61	0.23070	N	0.998342	P;P;D;P;P;P	0.53462	0.597;0.797;0.96;0.871;0.824;0.871	P;B;D;B;P;B	0.64237	0.679;0.088;0.923;0.18;0.84;0.18	T	0.10268	-1.0637	9	0.87932	D	0	.	5.265	0.15593	0.0:1.0E-4:0.0:0.9999	.	354;232;350;305;373;301	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	P	301;373;305;305;350;354	ENSP00000346613:Q301P;ENSP00000382511:Q373P;ENSP00000344483:Q305P;ENSP00000387998:Q305P;ENSP00000005082:Q350P;ENSP00000435828:Q354P	ENSP00000005082:Q350P	Q	-	2	0	ZNF195	3337696	0.000000	0.05858	0.005000	0.12908	0.054000	0.15201	0.053000	0.14184	0.431000	0.26258	0.254000	0.18369	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2	1	0	1	148	644	0	169	1	9.982339e-01	8	35	0	169	2		0	0	0	0	0	2	1	1	148	631	0	167	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF195	7748	broad.mit.edu	37	11	3381489	3381489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381489C>T	ENST00000399602.4	-	6	875	c.749G>A	c.(748-750)gGc>gAc	p.G250D	ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000354599.6_Missense_Mutation_p.G178D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195			17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)			AAAGGATTTGCCACATTCTTG	0.299000																								0							SO:0001583	missense			ENST00000399602.4	1	1	hg19	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646014	0.29246	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.34472	2.04;2.04;2.04;2.04;2.04;2.04;1.36	0.693	-0.389	0.12455	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.64630	1.985	0.26048	N	0.981527	D;P;D;B;D;B	0.89917	0.997;0.745;1.0;0.445;1.0;0.445	D;B;D;B;D;B	0.87578	0.994;0.095;0.996;0.058;0.998;0.058	T	0.35001	-0.9806	9	0.62326	D	0.03	.	3.7929	0.08728	0.0:0.4377:0.0:0.5623	.	231;109;227;182;250;178	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	D	178;250;182;182;227;231;205	ENSP00000346613:G178D;ENSP00000382511:G250D;ENSP00000344483:G182D;ENSP00000387998:G182D;ENSP00000005082:G227D;ENSP00000435828:G231D;ENSP00000431937:G205D	ENSP00000005082:G227D	G	-	2	0	ZNF195	3338065	0.810000	0.29049	0.015000	0.15790	0.768000	0.43524	0.518000	0.22847	-0.180000	0.10637	0.313000	0.20887	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2	1	0	1	54	246	0	48	1	9.874263e-01	11	23	0	48	2		0	0	0	0	0	2	1	1	52	241	0	47	2								-3.176513	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAT10	55226	broad.mit.edu	37	11	34162000	34162000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34162000C>A	ENST00000257829.3	+	24	2679	c.2473C>A	c.(2473-2475)Ctg>Atg	p.L825M	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L753M	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)			23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)			CCTGAAGCGGCTGGAGATGTA	0.572000																								0							SO:0001583	missense			ENST00000257829.3	1	1	hg19	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443659	0.63067	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.60171	0.21;0.22	5.16	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.76526	-0.2927	10	0.66056	D	0.02	-13.7691	9.1058	0.36696	0.0:0.71:0.0:0.29	.	825	Q9H0A0	NAT10_HUMAN	M	825;753	ENSP00000257829:L825M;ENSP00000433011:L753M	ENSP00000257829:L825M	L	+	1	2	NAT10	34118576	0.999000	0.42202	1.000000	0.80357	0.941000	0.58515	1.525000	0.35953	1.292000	0.44672	0.467000	0.42956	CTG		TCGA-IB-7651-01A-11D-2154-08	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	1	0	1	104	463	0	106	1	9.999999e-01	20	83	0	106	2		0	0	0	0	0	2	1	1	104	456	0	105	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABTB2	25841	broad.mit.edu	37	11	34181856	34181856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34181856G>T	ENST00000435224.2	-	12	2866	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2			25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)			TGCTGCCATAGCAGTGGGTGA	0.642000																								0							SO:0001587	stop_gained			ENST00000435224.2	0	1	hg19	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	43	10.293582	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6005	18.4941	0.90858	0.0:0.0:1.0:0.0	.	.	.	.	X	814;628	.	ENSP00000298992:C628X	C	-	3	2	ABTB2	34138432	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.740000	0.62087	2.370000	0.80446	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	1	0	1	44	190	0	40	1	9.841550e-01	2	29	0	40	2		0	0	0	0	0	2	1	1	42	184	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABTB2	25841	broad.mit.edu	37	11	34194836	34194836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34194836C>T	ENST00000435224.2	-	4	1687	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	ABTB2_ENST00000298992.2_Silent_p.P235P|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2			25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)			CCATGAGGGGCGGCAGCAGCA	0.706000																								0							SO:0001819	synonymous_variant			ENST00000435224.2	0	1	hg19	CCDS7890.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	1	0	0	7	76	0	19	0	2.741457e-01	0	11	0	19	2		0	0	0	0	0	2	1	9.805084e-01	7	74	0	17	2								-5.741535	1	1	121040	2	30	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.460000	1.000000	1.000000	0.891170	0.990000	1	7.000000e-01	1
CAT	847	broad.mit.edu	37	11	34482810	34482810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34482810G>A	ENST00000241052.4	+	9	1158	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase			26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		Fomepizole(DB01213)	CCGCCTTTTTGCCTATCCTGA	0.473000																								0							SO:0001583	missense			ENST00000241052.4	1	1	hg19	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785119	0.49997	.	.	ENSG00000121691	ENST00000241052	D	0.93019	-3.15	4.98	-2.58	0.06228	Catalase domain (1);Catalase, N-terminal (2);	0.178585	0.49916	D	0.000137	D	0.94162	0.8127	M	0.87682	2.9	0.41829	D	0.990061	P	0.37914	0.611	B	0.41860	0.368	D	0.92138	0.5718	10	0.72032	D	0.01	-9.7713	18.9336	0.92576	0.0:0.0:0.2394:0.7606	.	357	P04040	CATA_HUMAN	T	357	ENSP00000241052:A357T	ENSP00000241052:A357T	A	+	1	0	CAT	34439386	0.983000	0.35010	0.977000	0.42913	0.951000	0.60555	0.504000	0.22626	-0.437000	0.07243	-1.404000	0.01136	GCC		TCGA-IB-7651-01A-11D-2154-08	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	1	0	1	118	573	0	136	1	1	61	201	0	136	2		0	0	0	0	0	2	1	1	115	563	0	136	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD44	960	broad.mit.edu	37	11	35218302	35218302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35218302G>T	ENST00000428726.2	+	6	800	c.677G>T	c.(676-678)aGc>aTc	p.S226I	CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000263398.6_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000278386.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)			23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)	Hyaluronan(DB08818)	GCTTTGATGAGCACTAGTGCT	0.373000																								0							SO:0001583	missense			ENST00000428726.2	1	1	hg19	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.953|6.953	0.545717|0.545717	0.13312|0.13312	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000525685|ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	4.53|4.53	1.29|1.29	0.21616|0.21616	.|.	.|0.314365	.|0.23530	.|N	.|0.047198	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.40543|0.40543	1.245|1.245	0.51233|0.51233	D|D	0.999912|0.999912	.|B	.|0.14012	.|0.009	.|B	.|0.15870	.|0.014	T|T	0.05468|0.05468	-1.0883|-1.0883	5|10	.|0.54805	.|T	.|0.06	-21.6781|-21.6781	6.578|6.578	0.22577|0.22577	0.0:0.1787:0.4537:0.3676|0.0:0.1787:0.4537:0.3676	.|.	.|226	.|P16070	.|CD44_HUMAN	S|I	94|226	.|ENSP00000414567:S226I;ENSP00000391008:S226I;ENSP00000403990:S226I;ENSP00000398632:S226I	.|ENSP00000398632:S226I	A|S	+|+	1|2	0|0	CD44|CD44	35174878|35174878	0.395000|0.395000	0.25254|0.25254	0.685000|0.685000	0.30070|0.30070	0.171000|0.171000	0.22731|0.22731	0.440000|0.440000	0.21592|0.21592	0.311000|0.311000	0.23014|0.23014	0.561000|0.561000	0.74099|0.74099	GCA|AGC		TCGA-IB-7651-01A-11D-2154-08	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	1	0	1	30	128	0	48	1	9.999993e-01	56	48	0	48	2		0	0	0	0	0	2	1	1	30	127	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CD44	960	broad.mit.edu	37	11	35250775	35250775	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35250775A>T	ENST00000428726.2	+	18	2247	c.2124A>T	c.(2122-2124)gaA>gaT	p.E708D	CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000263398.6_Missense_Mutation_p.E327D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000278386.6_Missense_Mutation_p.N121Y	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)			23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)	Hyaluronan(DB08818)	AGTCTCAGGAAATGGTGCATT	0.498000																								0							SO:0001583	missense			ENST00000428726.2	1	1	hg19	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.989376|3.989376	0.74589|0.74589	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000526669;ENST00000279452;ENST00000278385;ENST00000525469|ENST00000278386	T;T;T;T;T;T;T;T;T;T;T;T|T	0.56275|0.53423	1.47;1.41;1.64;1.37;1.88;1.54;1.46;1.21;1.02;1.6;0.82;0.47|0.62	5.93|5.93	0.878|0.878	0.19150|0.19150	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56804|0.56804	0.2010|0.2010	M|M	0.80847|0.80847	2.515|2.515	0.27384|0.27384	N|N	0.955334|0.955334	D;D;D;B;D;D|P	0.89917|0.51791	1.0;0.998;0.996;0.013;1.0;0.994|0.948	D;D;D;B;D;D|P	0.85130|0.50659	0.997;0.997;0.995;0.018;0.996;0.97|0.647	T|T	0.52533|0.52533	-0.8563|-0.8563	10|9	0.87932|0.87932	D|D	0|0	-13.3682|-13.3682	8.8766|8.8766	0.35350|0.35350	0.5752:0.0:0.4248:0.0|0.5752:0.0:0.4248:0.0	.|.	306;395;327;459;665;708|121	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070|O95370	.;.;.;.;.;CD44_HUMAN|.	D|Y	327;665;680;665;640;362;708;459;395;306;151;256;227;48|121	ENSP00000263398:E327D;ENSP00000389830:E665D;ENSP00000414567:E680D;ENSP00000391008:E665D;ENSP00000403990:E640D;ENSP00000353280:E362D;ENSP00000398632:E708D;ENSP00000392331:E459D;ENSP00000404447:E395D;ENSP00000309732:E306D;ENSP00000279452:E256D;ENSP00000278385:E227D|ENSP00000278386:N121Y	ENSP00000263398:E327D|ENSP00000278386:N121Y	E|N	+|+	3|1	2|0	CD44|CD44	35207351|35207351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	1.898000|1.898000	0.39809|0.39809	0.235000|0.235000	0.21160|0.21160	-0.250000|-0.250000	0.11733|0.11733	GAA|AAT		TCGA-IB-7651-01A-11D-2154-08	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	1	0	1	107	489	0	124	1	1	418	1120	0	124	2		0	0	0	0	0	2	1	1	106	479	0	123	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC1A2	6506	broad.mit.edu	37	11	35338932	35338932	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35338932G>A	ENST00000278379.3	-	2	431	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2			24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		ACCAAACACCGTCAGGGTGAG	0.622000													NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)											0							SO:0001583	missense			ENST00000278379.3	1	1	hg19	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863853	0.71949	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.94	4.94	0.65067	.	0.146157	0.64402	D	0.000009	T	0.78181	0.4243	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.981;1.0	T	0.82026	-0.0661	10	0.87932	D	0	-16.1262	18.1904	0.89805	0.0:0.0:1.0:0.0	.	50;50	B4DQE9;P43004	.;EAA2_HUMAN	M	50;41;41;46	ENSP00000278379:T50M;ENSP00000379099:T41M;ENSP00000379102:T41M;ENSP00000406133:T46M	ENSP00000278379:T50M	T	-	2	0	SLC1A2	35295508	1.000000	0.71417	0.941000	0.38009	0.422000	0.31414	9.750000	0.98875	2.286000	0.76751	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	1	0	0	51	270	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	51	262	0	64	2								-20.000000	1	1	121412	1	26	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35461197G>T	ENST00000378880.2	-	8	1523	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1			26					TGCATCGGAAGAACTCTCCTT	0.453000																								0							SO:0001583	missense			ENST00000378880.2	1	1	hg19	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463058	0.84425	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.88896	-2.3;-2.34;-2.44;-2.31;-2.27	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.87578	0.998;0.991;0.996	D	0.92559	0.6056	10	0.87932	D	0	.	19.1303	0.93402	0.0:0.0:1.0:0.0	.	249;360;377	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	I	377;360;249;320;337	ENSP00000278360:L377I;ENSP00000368158:L360I;ENSP00000368156:L249I;ENSP00000433868:L320I;ENSP00000432591:L337I	ENSP00000278360:L377I	L	-	1	0	PAMR1	35417773	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.696000	0.68287	2.515000	0.84797	0.643000	0.83706	CTT		TCGA-IB-7651-01A-11D-2154-08	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	1	0	1	86	399	0	92	0	9.999973e-01	0	87	0	92	2		0	0	0	0	0	2	1	1	83	395	0	92	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LDLRAD3	143458	broad.mit.edu	37	11	36248778	36248778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36248778C>T	ENST00000315571.5	+	5	619	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R151W|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3			28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)			CCAGCGGAAGCGGAACAACCT	0.617000																								0							SO:0001583	missense			ENST00000315571.5	1	1	hg19	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218315	0.79464	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.95690	-3.78;-3.77;-3.6	5.07	1.95	0.26073	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.36672	1.1	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.988;0.99;0.99	D	0.94432	0.7650	10	0.49607	T	0.09	.	13.9673	0.64216	0.4149:0.5851:0.0:0.0	.	190;151;200	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	W	151;190;200	ENSP00000433954:R151W;ENSP00000434313:R190W;ENSP00000318607:R200W	ENSP00000318607:R200W	R	+	1	2	LDLRAD3	36205354	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	2.100000	0.41777	0.489000	0.27749	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	0	0	0	18	451	0	73	0	3.116646e-01	0	28	0	73	2		0	0	0	0	0	2	1	9.999802e-01	18	444	0	72	2								-4.144196	1	1	121412	6	36	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.460000	0.280000	1.000000	0.450000	0.491829	0.460000	0	3.600000e-01	5.900000e-01
PRR5L	79899	broad.mit.edu	37	11	36422814	36422814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36422814G>A	ENST00000378867.3	+	3	498	c.143G>A	c.(142-144)aGc>aAc	p.S48N	PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N|PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like			19					CTGCAGCTGAGCTCCAGCTCA	0.657000																								0							SO:0001583	missense			ENST00000378867.3	1	1	hg19	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015551	0.54468	0.0	1.16E-4	ENSG00000135362	ENST00000530639;ENST00000532121;ENST00000526728;ENST00000311599;ENST00000378867;ENST00000524380;ENST00000526682;ENST00000530252;ENST00000530050;ENST00000526679;ENST00000527487	T;T;T;T;T;T;T;T;T;T;T	0.64991	1.52;1.52;1.52;1.76;1.52;-0.13;1.52;1.52;1.52;1.52;1.52	5.24	5.24	0.73138	.	0.163476	0.56097	D	0.000033	T	0.46288	0.1385	L	0.27053	0.805	0.43255	D	0.995181	B;B	0.15473	0.003;0.013	B;B	0.15052	0.012;0.01	T	0.36553	-0.9743	10	0.14252	T	0.57	-18.1743	12.2157	0.54404	0.0774:0.0:0.9226:0.0	.	48;48	E9PKY1;Q6MZQ0	.;PRR5L_HUMAN	N	48;48;48;22;48;48;48;48;48;48;48	ENSP00000435050:S48N;ENSP00000433893:S48N;ENSP00000431610:S48N;ENSP00000310103:S22N;ENSP00000368144:S48N;ENSP00000433305:S48N;ENSP00000436485:S48N;ENSP00000431475:S48N;ENSP00000432203:S48N;ENSP00000436402:S48N;ENSP00000435241:S48N	ENSP00000310103:S22N	S	+	2	0	PRR5L	36379390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.440000	0.82611	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	1	0	1	19	127	0	36	1	9.533806e-01	2	35	0	36	2		0	0	0	0	0	2	1	9.999931e-01	19	125	0	35	2								-20.000000	1	1	121404	1	19	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.960000	1.000000	1.000000	0.997114	0.990000	1	9.900000e-01	1
PRR5L	79899	broad.mit.edu	37	11	36484237	36484237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36484237C>T	ENST00000378867.3	+	10	1413	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	PRR5L_ENST00000530639.1_Missense_Mutation_p.A353V|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like			19					GAGGAGGGGGCCAGGGGCAGC	0.642000																								0							SO:0001583	missense			ENST00000378867.3	0	1	hg19	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223423	0.39300	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.80304	-1.36;-1.36;-1.36	5.41	-0.113	0.13568	.	2.381560	0.01509	N	0.017830	T	0.67249	0.2873	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.51188	-0.8737	10	0.24483	T	0.36	-7.0768	6.0317	0.19684	0.0:0.5007:0.2319:0.2674	.	225;353	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	V	353;280;353	ENSP00000435050:A353V;ENSP00000310103:A280V;ENSP00000368144:A353V	ENSP00000310103:A280V	A	+	2	0	PRR5L	36440813	0.000000	0.05858	0.002000	0.10522	0.885000	0.51271	1.128000	0.31369	0.246000	0.21394	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	0	0	0	8	320	0	34	0	1.989251e-01	0	30	0	34	2		0	0	0	0	0	2	1	9.895910e-01	8	320	0	34	2								-3.282922	1	1	121118	1	28	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.300000	0.140000	1.000000	0.290000	0.343471	0.300000	0	2.100000e-01	4.400000e-01
RAG1	5896	broad.mit.edu	37	11	36596004	36596004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36596004G>T	ENST00000299440.5	+	2	1262	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1			65	all_lung(20;0.226)	all_hematologic(20;0.107)			GGAATCAAAAGAGATTTTTGT	0.478000									Familial Hemophagocytic Lymphohistiocytosis				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											0							SO:0001587	stop_gained	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	ENST00000299440.5	0	1	hg19	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697658	0.88830	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.53	4.61	0.57282	.	0.169885	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5043	0.84266	0.0:0.131:0.869:0.0	.	.	.	.	X	384	.	ENSP00000299440:E384X	E	+	1	0	RAG1	36552580	1.000000	0.71417	0.744000	0.31058	0.777000	0.43975	3.788000	0.55446	1.340000	0.45581	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	1	0	1	77	338	0	74	0	3.535162e-02	0	2	0	74	2		0	0	0	0	0	2	1	1	77	331	0	74	2								-3.264392	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNA10	57053	broad.mit.edu	37	11	3688612	3688612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688612G>A	ENST00000250699.2	-	4	816	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	CHRNA10_ENST00000534359.1_Silent_p.C66C|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)			7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	AGCGAGATGAGCACGCAGGGC	0.697000													Melanoma(153;17 1869 2949 7120 36888)											0							SO:0001583	missense			ENST00000250699.2	1	1	hg19	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141562	0.37825	.	.	ENSG00000129749	ENST00000250699	D	0.91464	-2.85	5.33	4.41	0.53225	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.377447	0.20813	N	0.085212	D	0.90198	0.6936	M	0.69185	2.1	0.80722	D	1	B	0.34399	0.452	P	0.44477	0.451	D	0.87106	0.2182	10	0.39692	T	0.17	.	6.2434	0.20803	0.0913:0.0:0.6228:0.2859	.	249	Q9GZZ6	ACH10_HUMAN	F	249	ENSP00000250699:L249F	ENSP00000250699:L249F	L	-	1	0	CHRNA10	3645188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.376000	0.34306	1.214000	0.43395	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2	1	0	0	28	124	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1	28	120	0	16	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
CHRNA10	57053	broad.mit.edu	37	11	3688708	3688708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688708C>T	ENST00000250699.2	-	4	720	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CHRNA10_ENST00000534359.1_Silent_p.T34T|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)			7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GAGCAGCAGCCGTAGGTGAGC	0.731000													Melanoma(153;17 1869 2949 7120 36888)											0							SO:0001583	missense			ENST00000250699.2	1	1	hg19	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216189	0.79352	.	.	ENSG00000129749	ENST00000250699	T	0.80393	-1.37	5.22	5.22	0.72569	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.56097	D	0.000025	T	0.81192	0.4771	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75238	-0.3388	10	0.07990	T	0.79	.	17.3358	0.87280	0.0:1.0:0.0:0.0	.	217	Q9GZZ6	ACH10_HUMAN	S	217	ENSP00000250699:G217S	ENSP00000250699:G217S	G	-	1	0	CHRNA10	3645284	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.991000	0.70602	2.433000	0.82419	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2	1	0	0	23	117	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999997e-01	23	116	0	25	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999890	0.990000	1	9.900000e-01	1
NUP98	4928	broad.mit.edu	37	11	3697446	3697446	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3697446G>A	ENST00000324932.7	-	33	5766	c.5346C>T	c.(5344-5346)gaC>gaT	p.D1782D	NUP98_ENST00000355260.3_Silent_p.D1708D|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa			66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)			TGCGCAGTTCGTCCATGGCAT	0.582000			T	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11	AML										Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0							SO:0001819	synonymous_variant			ENST00000324932.7	0	1	hg19	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	3.807	-0.040427	0.07497	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.66	-5.9	0.02275	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.5892	0.7825	0.01043	0.1843:0.3352:0.1852:0.2953	.	.	.	.	X	735	.	.	R	-	1	2	NUP98	3654022	0.998000	0.40836	0.816000	0.32577	0.647000	0.38526	0.587000	0.23909	-1.198000	0.02669	-2.363000	0.00238	CGA		TCGA-IB-7651-01A-11D-2154-08	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	0	0	0	10	400	0	70	0	9.666310e-01	1	234	0	70	2		0	0	0	0	0	2	1	9.966847e-01	10	393	0	70	2								-9.278311	1	1	121412	1	30	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.300000	0.150000	1.000000	0.290000	0.337921	0.300000	0	2.100000e-01	4.200000e-01
B4GALNT4	338707	broad.mit.edu	37	11	373496	373496	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373496C>A	ENST00000329962.6	+	7	684	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4			24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			AGTTCAGCTCCCAGGTGTCCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000329962.6	1	1	hg19	CCDS7694.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	1	60	425	0	103	1	8.732842e-01	7	21	0	103	2		0	0	0	0	0	2	1	1	60	417	0	103	2								-2.920856	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
B4GALNT4	338707	broad.mit.edu	37	11	373509	373509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373509C>T	ENST00000329962.6	+	7	697	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4			24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			GGTGTCCAAGCCCAGGCGGTG	0.622000																								0							SO:0001583	missense			ENST00000329962.6	1	1	hg19	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.166235	0.57476	.	.	ENSG00000182272	ENST00000329962	T	0.21361	2.01	4.23	4.23	0.50019	PA14 (2);	0.320979	0.28901	N	0.013763	T	0.30166	0.0756	L	0.48877	1.53	0.44352	D	0.997242	D	0.52996	0.957	P	0.50490	0.642	T	0.07309	-1.0779	10	0.56958	D	0.05	-25.8667	17.1578	0.86796	0.0:1.0:0.0:0.0	.	233	Q76KP1	B4GN4_HUMAN	S	233	ENSP00000328277:P233S	ENSP00000328277:P233S	P	+	1	0	B4GALNT4	363509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.864000	0.39469	2.337000	0.79520	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	1	63	461	0	113	1	8.881457e-01	8	22	0	113	2		0	0	0	0	0	2	1	1	62	450	0	113	2								-19.999810	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999896	0.990000	1	9.900000e-01	1
B4GALNT4	338707	broad.mit.edu	37	11	375875	375875	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:375875G>T	ENST00000329962.6	+	11	1014	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4			24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			CGAGCCTGGAGAACGTGCTGG	0.682000																								0							SO:0001583	missense			ENST00000329962.6	1	1	hg19	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	13.17	2.158463	0.38119	.	.	ENSG00000182272	ENST00000329962	T	0.73897	-0.79	3.61	2.69	0.31865	.	0.912273	0.09321	N	0.818214	T	0.67915	0.2944	L	0.58101	1.795	0.39391	D	0.966419	B	0.27351	0.176	B	0.22386	0.039	T	0.63116	-0.6709	10	0.44086	T	0.13	-35.4561	7.1343	0.25519	0.0955:0.173:0.7315:0.0	.	338	Q76KP1	B4GN4_HUMAN	D	338	ENSP00000328277:E338D	ENSP00000328277:E338D	E	+	3	2	B4GALNT4	365875	1.000000	0.71417	0.758000	0.31321	0.632000	0.37999	3.133000	0.50531	0.852000	0.35287	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0	25	101	0	20	1	9.882955e-01	10	22	0	20	2		0	0	0	0	0	2	1	9.999999e-01	24	98	0	19	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
B4GALNT4	338707	broad.mit.edu	37	11	376150	376150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:376150G>A	ENST00000329962.6	+	12	1172	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4			24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			TGCTTCTACCGCGAGTCTCCG	0.692000																								0							SO:0001583	missense			ENST00000329962.6	1	1	hg19	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.520086	0.85495	.	.	ENSG00000182272	ENST00000329962	T	0.72615	-0.67	3.01	3.01	0.34805	.	0.137013	0.44688	D	0.000430	T	0.79953	0.4535	L	0.55990	1.75	0.49213	D	0.999765	D	0.89917	1.0	D	0.80764	0.994	T	0.83037	-0.0159	10	0.72032	D	0.01	-20.3149	15.2295	0.73374	0.0:0.0:1.0:0.0	.	391	Q76KP1	B4GN4_HUMAN	H	391	ENSP00000328277:R391H	ENSP00000328277:R391H	R	+	2	0	B4GALNT4	366150	1.000000	0.71417	0.977000	0.42913	0.875000	0.50365	5.187000	0.65087	1.978000	0.57642	0.436000	0.28706	CGC		TCGA-IB-7651-01A-11D-2154-08	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0	37	188	0	37	1	9.945920e-01	16	28	0	37	2		0	0	0	0	0	2	1	1	37	182	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
B4GALNT4	338707	broad.mit.edu	37	11	377173	377173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377173C>T	ENST00000329962.6	+	14	2050	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4			24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			CGACTGGCAGCGCACGTTCAG	0.726000																								0							SO:0001583	missense			ENST00000329962.6	0	1	hg19	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.89	3.719105	0.68844	.	.	ENSG00000182272	ENST00000329962	T	0.08546	3.08	3.52	3.52	0.40303	.	0.065101	0.56097	D	0.000032	T	0.23611	0.0571	M	0.63428	1.95	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	T	0.00964	-1.1498	10	0.87932	D	0	-27.6998	11.936	0.52874	0.25:0.75:0.0:0.0	.	684	Q76KP1	B4GN4_HUMAN	C	684	ENSP00000328277:R684C	ENSP00000328277:R684C	R	+	1	0	B4GALNT4	367173	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.794000	0.38774	1.974000	0.57490	0.436000	0.28706	CGC		TCGA-IB-7651-01A-11D-2154-08	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0	8	40	0	10	1	2.273485e-01	2	3	0	10	2		0	0	0	0	0	2	1	9.915054e-01	8	40	0	10	2								-16.457450	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.880000	1.000000	1.000000	0.992877	0.990000	1	9.900000e-01	1
B4GALNT4	338707	broad.mit.edu	37	11	377297	377297	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377297A>G	ENST00000329962.6	+	14	2174	c.2174A>G	c.(2173-2175)tAc>tGc	p.Y725C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4			24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			ACCGCTCAGTACATGGAGCGG	0.701000																								0							SO:0001583	missense			ENST00000329962.6	0	1	hg19	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	a	12.79	2.044333	0.36085	.	.	ENSG00000182272	ENST00000329962	T	0.15139	2.45	3.28	3.28	0.37604	.	0.081321	0.51477	D	0.000094	T	0.37376	0.1001	M	0.68952	2.095	0.41763	D	0.98972	D	0.76494	0.999	D	0.81914	0.995	T	0.28744	-1.0034	10	0.72032	D	0.01	-27.5924	12.0889	0.53713	1.0:0.0:0.0:0.0	.	725	Q76KP1	B4GN4_HUMAN	C	725	ENSP00000328277:Y725C	ENSP00000328277:Y725C	Y	+	2	0	B4GALNT4	367297	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.606000	0.54095	1.508000	0.48769	0.172000	0.16884	TAC		TCGA-IB-7651-01A-11D-2154-08	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	0	9	52	0	8	1	6.971154e-02	2	1	0	8	2		0	0	0	0	0	2	1	9.946245e-01	9	50	0	6	2								-19.986320	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.850000	1.000000	1.000000	0.991112	0.990000	1	9.900000e-01	1
NUP98	4928	broad.mit.edu	37	11	3793016	3793016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3793016C>T	ENST00000324932.7	-	7	1166	c.746G>A	c.(745-747)gGc>gAc	p.G249D	NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D|NUP98_ENST00000359171.4_Missense_Mutation_p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa			66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)			ATATGCAAAGCCTGAATTAGT	0.448000			T	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11	AML										Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0							SO:0001583	missense			ENST00000324932.7	1	1	hg19	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509444	0.64522	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.72	4.79	0.61399	.	0.240110	0.42420	D	0.000701	T	0.58119	0.2100	M	0.76838	2.35	0.31610	N	0.651631	P;P;B;P;P	0.39903	0.568;0.649;0.069;0.694;0.694	B;B;B;B;B	0.41299	0.193;0.322;0.082;0.353;0.353	T	0.68100	-0.5498	9	0.42905	T	0.14	.	15.1002	0.72269	0.0:0.8525:0.1475:0.0	.	249;249;249;249;249	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	D	249	.	ENSP00000316032:G249D	G	-	2	0	NUP98	3749592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.261000	0.43276	1.388000	0.46506	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	1	0	1	38	248	0	55	1	9.999940e-01	27	95	0	55	2		0	0	0	0	0	2	1	1	38	237	0	54	2								-17.429100	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999841	0.990000	1	9.900000e-01	1
NUP98	4928	broad.mit.edu	37	11	3800140	3800140	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3800140G>A	ENST00000324932.7	-	4	738	c.318C>T	c.(316-318)aaC>aaT	p.N106N	RNU7-50P_ENST00000459175.1_RNA|NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N|NUP98_ENST00000359171.4_Silent_p.N106N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa			66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)			CAAAGGCATTGTTTTGGGATG	0.443000			T	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11	AML										Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0							SO:0001819	synonymous_variant			ENST00000324932.7	1	1	hg19	CCDS7746.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	0	0	1	57	462	1	98	1	9.748509e-01	15	92	1	98	6		0	0	0	0	0	2	1	9.999992e-01	57	450	1	97	18								-19.393590	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998886	0.990000	1	9.900000e-01	1
B4GALNT4	338707	broad.mit.edu	37	11	380400	380400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380400G>A	ENST00000329962.6	+	18	2824	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4			24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			CTTCGCGCCCGTGGTCATGCG	0.692000																								0							SO:0001583	missense			ENST00000329962.6	1	1	hg19	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	9.285	1.049146	0.19827	.	.	ENSG00000182272	ENST00000329962	T	0.20332	2.08	3.81	3.81	0.43845	.	0.060502	0.64402	D	0.000008	T	0.09379	0.0231	N	0.12182	0.205	0.37812	D	0.928063	P	0.41524	0.753	B	0.40477	0.33	T	0.17137	-1.0379	10	0.12430	T	0.62	-32.6499	4.8054	0.13317	0.2853:0.0:0.7147:0.0	.	942	Q76KP1	B4GN4_HUMAN	M	942	ENSP00000328277:V942M	ENSP00000328277:V942M	V	+	1	0	B4GALNT4	370400	1.000000	0.71417	0.915000	0.36163	0.751000	0.42716	5.998000	0.70653	2.118000	0.64928	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	1	0	1	40	133	0	32	1	9.983035e-01	19	17	0	32	2		0	0	0	0	0	2	1	1	38	131	0	31	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B4GALNT4	338707	broad.mit.edu	37	11	380410	380410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380410G>A	ENST00000329962.6	+	18	2834	c.2834G>A	c.(2833-2835)cGc>cAc	p.R945H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4			24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			GTGGTCATGCGCCTGAGCTGC	0.682000																								0							SO:0001583	missense			ENST00000329962.6	0	1	hg19	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.633137	0.87660	.	.	ENSG00000182272	ENST00000329962	T	0.15487	2.42	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	M	0.88450	2.955	0.50039	D	0.99984	D	0.89917	1.0	D	0.85130	0.997	T	0.61903	-0.6967	10	0.72032	D	0.01	-25.972	16.2551	0.82510	0.0:0.0:1.0:0.0	.	945	Q76KP1	B4GN4_HUMAN	H	945	ENSP00000328277:R945H	ENSP00000328277:R945H	R	+	2	0	B4GALNT4	370410	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.399000	0.97285	2.118000	0.64928	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	0	0	0	26	108	0	26	1	9.975582e-01	16	26	0	26	2		0	0	0	0	0	2	1	1	26	106	0	26	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
PKP3	11187	broad.mit.edu	37	11	396980	396980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:396980G>A	ENST00000331563.2	+	3	555	c.479G>A	c.(478-480)aGg>aAg	p.R160K	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3			11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)			ATGCCCACCAGGCCCGTGTCC	0.721000																								0							SO:0001583	missense			ENST00000331563.2	1	1	hg19	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282506	0.59867	.	.	ENSG00000184363	ENST00000534401;ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80994	-1.44	3.03	3.03	0.35002	.	1.122620	0.06787	N	0.786346	T	0.78861	0.4350	L	0.50333	1.59	0.35502	D	0.799911	P	0.48764	0.915	B	0.44224	0.444	T	0.75614	-0.3257	10	0.25751	T	0.34	-26.2681	13.4207	0.60996	0.0:0.0:1.0:0.0	.	160	Q9Y446	PKP3_HUMAN	K	4;4;4;4;160;102	ENSP00000331678:R160K	ENSP00000331678:R160K	R	+	2	0	PKP3	386980	1.000000	0.71417	0.958000	0.39756	0.315000	0.28087	1.481000	0.35476	2.007000	0.58848	0.457000	0.33378	AGG		TCGA-IB-7651-01A-11D-2154-08	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	1	0	0	42	131	0	32	1	1	48	41	0	32	2		0	0	0	0	0	2	1	1	42	130	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKP3	11187	broad.mit.edu	37	11	399008	399008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:399008C>T	ENST00000331563.2	+	5	1161	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3			11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)			AGCCTTCAGGCCGTGCCTAGG	0.612000																								0							SO:0001583	missense			ENST00000331563.2	1	1	hg19	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.731141	0.48939	.	.	ENSG00000184363	ENST00000331563	T	0.70282	-0.47	3.99	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);	0.067408	0.64402	D	0.000018	T	0.74298	0.3698	N	0.25647	0.755	0.49130	D	0.999757	D	0.69078	0.997	D	0.65140	0.932	T	0.79347	-0.1841	10	0.87932	D	0	-9.5982	16.4754	0.84131	0.0:1.0:0.0:0.0	.	362	Q9Y446	PKP3_HUMAN	V	362	ENSP00000331678:A362V	ENSP00000331678:A362V	A	+	2	0	PKP3	389008	1.000000	0.71417	0.891000	0.34965	0.225000	0.24961	4.398000	0.59697	1.968000	0.57251	0.486000	0.48141	GCC		TCGA-IB-7651-01A-11D-2154-08	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	1	0	1	57	335	0	86	1	1	257	233	0	86	2		0	0	0	0	0	2	1	1	56	329	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LRRC4C	57689	broad.mit.edu	37	11	40136372	40136372	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136372T>G	ENST00000278198.2	-	2	3434	c.1471A>C	c.(1471-1473)Acc>Ccc	p.T491P	LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C			86		all_lung(304;0.0575)|Lung NSC(402;0.138)			GTGAGAGAGGTGGTCACATTG	0.512000																								0							SO:0001583	missense			ENST00000278198.2	1	1	hg19	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576934	0.28092	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.84	5.84	0.93424	.	0.048768	0.85682	D	0.000000	T	0.37571	0.1008	L	0.41710	1.295	0.58432	D	0.999996	B	0.18968	0.032	B	0.21151	0.033	T	0.10730	-1.0617	10	0.39692	T	0.17	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	491	Q9HCJ2	LRC4C_HUMAN	P	491	ENSP00000278198:T491P;ENSP00000436976:T491P;ENSP00000437132:T491P;ENSP00000434761:T491P	ENSP00000278198:T491P	T	-	1	0	LRRC4C	40092948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.139000	0.71728	2.228000	0.72767	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	1	0	1	38	217	0	34	0	4.051514e-01	0	9	0	34	2		0	0	0	0	0	2	1	1	35	212	0	34	2								-19.065300	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
LRRC4C	57689	broad.mit.edu	37	11	40136995	40136995	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136995G>T	ENST00000278198.2	-	2	2811	c.848C>A	c.(847-849)cCt>cAt	p.P283H	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P283H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C			86		all_lung(304;0.0575)|Lung NSC(402;0.138)			GAGGTCATGAGGCAGTAATGT	0.443000																								0							SO:0001583	missense			ENST00000278198.2	0	1	hg19	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286485	0.59867	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00520	-1.1692	10	0.37606	T	0.19	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	283	Q9HCJ2	LRC4C_HUMAN	H	283	ENSP00000278198:P283H;ENSP00000436976:P283H;ENSP00000437132:P283H;ENSP00000434761:P283H	ENSP00000278198:P283H	P	-	2	0	LRRC4C	40093571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	0	0	0	16	701	0	138	0	1.737353e-03	0	3	0	138	2		0	0	0	0	0	2	1	9.999184e-01	16	684	0	134	2								-2.683498	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.270000	0.150000	1.000000	0.260000	0.304931	0.270000	0	2.000000e-01	3.500000e-01
SIGIRR	59307	broad.mit.edu	37	11	405971	405971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:405971G>A	ENST00000431843.2	-	10	1464	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	SIGIRR_ENST00000332725.3_Silent_p.D386D|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R483C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R483C|SIGIRR_ENST00000397632.3_Silent_p.D386D	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain			13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			GATCCGAGACGTCCACTTCGC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000431843.2	1	1	hg19	CCDS31325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.29|15.29	2.788298|2.788298	0.49997|0.49997	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000531205;ENST00000382520|ENST00000526395	T;T|.	0.04317|.	3.65;3.65|.	3.54|3.54	-0.934|-0.934	0.10428|0.10428	.|.	.|.	.|.	.|.	.|.	T|T	0.31888|0.31888	0.0811|0.0811	.|.	.|.	.|.	0.29424|0.29424	N|N	0.860311|0.860311	B|.	0.12630|.	0.006|.	B|.	0.04013|.	0.001|.	T|T	0.36915|0.36915	-0.9728|-0.9728	8|4	0.87932|.	D|.	0|.	.|.	7.8452|7.8452	0.29421|0.29421	0.4184:0.0:0.5816:0.0|0.4184:0.0:0.5816:0.0	.|.	483|.	C9JFX4|.	.|.	C|M	483|118	ENSP00000433022:R483C;ENSP00000371960:R483C|.	ENSP00000371960:R483C|.	R|T	-|-	1|2	0|0	SIGIRR|SIGIRR	395971|395971	0.004000|0.004000	0.15560|0.15560	0.936000|0.936000	0.37596|0.37596	0.969000|0.969000	0.65631|0.65631	0.104000|0.104000	0.15313|0.15313	-0.138000|-0.138000	0.11434|0.11434	0.491000|0.491000	0.48974|0.48974	CGT|ACG		TCGA-IB-7651-01A-11D-2154-08	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	0	0	1	26	131	0	35	1	1	94	208	0	35	2		0	0	0	0	0	2	1	9.999977e-01	19	94	0	20	2								-20.000000	1	1	120712	1	25	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
SIGIRR	59307	broad.mit.edu	37	11	407518	407518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407518G>A	ENST00000431843.2	-	6	838	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C|SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain			13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			ACGAACTTGCGGTCCTCGGGG	0.667000																								0							SO:0001583	missense			ENST00000431843.2	0	1	hg19	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.751638	0.49362	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000528209;ENST00000530494	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	2.75	1.81	0.25067	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.072087	0.56097	D	0.000036	T	0.25344	0.0616	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.01078	-1.1459	10	0.87932	D	0	.	9.1772	0.37118	0.0:0.0:0.6093:0.3907	.	178;178	C9JFX4;Q6IA17	.;SIGIR_HUMAN	C	178;178;178;178;178;74;122	ENSP00000403104:R178C;ENSP00000380756:R178C;ENSP00000333656:R178C;ENSP00000433022:R178C;ENSP00000371960:R178C;ENSP00000435135:R74C	ENSP00000333656:R178C	R	-	1	0	SIGIRR	397518	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.303000	0.33470	0.725000	0.32318	0.289000	0.19496	CGC		TCGA-IB-7651-01A-11D-2154-08	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	1	0	0	10	67	0	20	1	9.856363e-01	19	34	0	20	2		0	0	0	0	0	2	1	9.973482e-01	10	66	0	19	2								-17.517820	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.790000	1.000000	1.000000	0.986813	0.990000	1	9.900000e-01	1
SIGIRR	59307	broad.mit.edu	37	11	407555	407555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407555G>A	ENST00000431843.2	-	6	801	c.495C>T	c.(493-495)taC>taT	p.Y165Y	SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y|SIGIRR_ENST00000397632.3_Silent_p.Y165Y	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain			13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			CGTAGGCGTCGTAGAGCTTCC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000431843.2	1	1	hg19	CCDS31325.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	1	0	0	16	74	0	19	1	9.999833e-01	3	96	0	19	2		0	0	0	0	0	2	1	9.999539e-01	16	72	0	18	2								-20.000000	1	0	120234	1	19	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999623	0.990000	1	9.900000e-01	1
STIM1	6786	broad.mit.edu	37	11	4104554	4104554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4104554G>A	ENST00000300737.4	+	10	1869	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STIM1_ENST00000527651.1_Missense_Mutation_p.E434K|STIM1_ENST00000533977.1_Missense_Mutation_p.E261K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1			30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)			GCAACAGATCGAGATCCTCTG	0.582000																								0							SO:0001583	missense			ENST00000300737.4	1	1	hg19	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183147	0.94885	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;D;T	0.87966	-1.33;-2.32;-1.27	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.75484	0.546;0.986	D	0.93930	0.7213	10	0.87932	D	0	-18.9901	18.7957	0.91993	0.0:0.0:1.0:0.0	.	434;434	E9PQJ4;Q13586	.;STIM1_HUMAN	K	434;434;261	ENSP00000300737:E434K;ENSP00000436208:E434K;ENSP00000434767:E261K	ENSP00000300737:E434K	E	+	1	0	STIM1	4061130	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.416000	0.97383	2.698000	0.92095	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	0	0	0	13	368	0	68	1	9.887405e-01	10	204	0	68	2		0	0	0	0	0	2	1	9.995034e-01	13	362	0	67	2								-3.109360	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.410000	0.230000	1.000000	0.400000	0.448262	0.410000	0	3.100000e-01	5.600000e-01
RRM1	6240	broad.mit.edu	37	11	4128754	4128754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4128754G>A	ENST00000300738.5	+	4	580	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1			14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TATTGTTCTGGCCAATAAAGA	0.323000													NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)											0							SO:0001583	missense			ENST00000300738.5	1	1	hg19	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764826	0.69878	.	.	ENSG00000167325	ENST00000300738;ENST00000423050	T;T	0.31510	1.49;1.52	6.07	5.17	0.71159	Ribonucleotide reductase R1 subunit, N-terminal (1);	0.048798	0.85682	D	0.000000	T	0.29976	0.0750	L	0.56340	1.77	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.05354	-1.0890	9	.	.	.	-4.3347	14.2372	0.65934	0.0706:0.0:0.9294:0.0	.	126	P23921	RIR1_HUMAN	T	126;29	ENSP00000300738:A126T;ENSP00000390539:A29T	.	A	+	1	0	RRM1	4085330	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	9.091000	0.94151	1.582000	0.49881	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	1	0	1	62	270	0	75	1	1	39	126	0	75	2		0	0	0	0	0	2	1	1	62	266	0	75	2								-3.467790	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO9	338440	broad.mit.edu	37	11	418966	418966	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:418966T>C	ENST00000332826.6	-	21	2042	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9			21					GGACAGGCTGTGGTTGACGTA	0.622000																								0							SO:0001583	missense			ENST00000332826.6	1	1	hg19	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	t	17.05	3.289423	0.59976	.	.	ENSG00000185101	ENST00000332826	T	0.62941	-0.01	4.44	3.3	0.37823	.	0.402097	0.25164	N	0.032656	T	0.71913	0.3396	M	0.78456	2.415	0.36470	D	0.867201	P;D	0.67145	0.929;0.996	P;P	0.60345	0.503;0.873	T	0.74402	-0.3677	10	0.42905	T	0.14	.	7.4028	0.26973	0.0:0.1758:0.0:0.8242	.	354;653	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	R	653	ENSP00000332788:H653R	ENSP00000332788:H653R	H	-	2	0	ANO9	408966	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.075000	0.57584	0.684000	0.31448	0.391000	0.25812	CAC		TCGA-IB-7651-01A-11D-2154-08	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	0	0	1	144	642	0	154	1	9.951291e-01	12	26	0	154	2		0	0	0	0	0	2	1	1	141	620	0	152	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO9	338440	broad.mit.edu	37	11	420737	420737	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:420737G>A	ENST00000332826.6	-	18	1698	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9			21					TGAACTCGTCGAACAGGCTGA	0.706000																								0							SO:0001819	synonymous_variant			ENST00000332826.6	1	1	hg19	CCDS31326.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	1	0	0	24	102	0	24	1	9.086643e-01	9	11	0	24	2		0	0	0	0	0	2	1	9.999998e-01	23	101	0	23	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
API5	8539	broad.mit.edu	37	11	43342961	43342961	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43342961A>C	ENST00000531273.1	+	4	465	c.326A>C	c.(325-327)gAt>gCt	p.D109A	API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Splice_Site_p.D55A|API5_ENST00000534600.1_Splice_Site_p.D109A|API5_ENST00000378852.3_Splice_Site_p.D109A|API5_ENST00000455725.2_Splice_Site_p.D98A			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5			20					CTTTATCCAGATGACTCTGCA	0.303000													Pancreas(1;98 122 5625 20895 49453)											0							SO:0001630	splice_region_variant			ENST00000531273.1	1	0	hg19	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779208	0.90195	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.65975	2.015	0.80722	D	1	B;P;D;P	0.58620	0.117;0.896;0.983;0.873	B;P;P;B	0.60415	0.112;0.519;0.874;0.298	T	0.14699	-1.0463	9	.	.	.	.	15.989	0.80188	1.0:0.0:0.0:0.0	.	55;109;98;109	B4DGR0;Q9BZZ5;B4E283;Q9BZZ5-2	.;API5_HUMAN;.;.	A	98;109;55;109;109	ENSP00000399341:D98A;ENSP00000431391:D109A;ENSP00000402540:D55A;ENSP00000368129:D109A;ENSP00000434462:D109A	.	D	+	2	0	API5	43299537	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.489000	0.81451	2.261000	0.74972	0.529000	0.55759	GAT		TCGA-IB-7651-01A-11D-2154-08	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	1	0	1	42	206	0	55	1	1	39	132	0	55	2		0	0	0	0	0	2	1	1	42	205	0	55	2								-19.999280	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
API5	8539	broad.mit.edu	37	11	43345051	43345051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345051G>A	ENST00000531273.1	+	6	754	c.615G>A	c.(613-615)caG>caA	p.Q205Q	API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Silent_p.Q151Q|API5_ENST00000534600.1_Silent_p.Q205Q|API5_ENST00000378852.3_Silent_p.Q205Q|API5_ENST00000455725.2_Silent_p.Q194Q			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	p.L204_S208delLQTVS(1)		20					AAAGCTTACAGACAGTGAGTG	0.443000													Pancreas(1;98 122 5625 20895 49453)											1	Deletion - In frame(1)						SO:0001819	synonymous_variant			ENST00000531273.1	1	1	hg19	CCDS44572.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	1	0	1	88	437	0	101	1	1	65	169	0	101	2		0	0	0	0	0	2	1	1	87	430	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
API5	8539	broad.mit.edu	37	11	43345158	43345158	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345158G>A	ENST00000531273.1	+	6	861	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.C187Y|API5_ENST00000534600.1_Missense_Mutation_p.C241Y|API5_ENST00000378852.3_Missense_Mutation_p.C241Y|API5_ENST00000455725.2_Missense_Mutation_p.C230Y			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5			20					CTCTTACAGTGCACTCGGCAG	0.458000													Pancreas(1;98 122 5625 20895 49453)											0							SO:0001583	missense			ENST00000531273.1	1	1	hg19	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897170	0.91962	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.67625	2.065	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.999	T	0.60919	-0.7167	10	0.62326	D	0.03	-13.4804	19.6343	0.95724	0.0:0.0:1.0:0.0	.	187;241;230;241;241	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	Y	230;241;187;241;241;91	ENSP00000399341:C230Y;ENSP00000431391:C241Y;ENSP00000402540:C187Y;ENSP00000368129:C241Y;ENSP00000434462:C241Y;ENSP00000436436:C91Y	ENSP00000368129:C241Y	C	+	2	0	API5	43301734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	1	0	1	59	740	0	173	1	9.999993e-01	38	215	0	173	2		0	0	0	0	0	2	1	1	59	729	0	172	2								-12.487300	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.870000	0.670000	1.000000	1.000000	0.876166	0.870000	1	7.600000e-01	1
API5	8539	broad.mit.edu	37	11	43351531	43351531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43351531C>T	ENST00000531273.1	+	10	1283	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.R328W|Y_RNA_ENST00000516843.1_RNA|API5_ENST00000534600.1_Missense_Mutation_p.R382W|API5_ENST00000378852.3_Missense_Mutation_p.R382W|API5_ENST00000455725.2_Missense_Mutation_p.R371W			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5			20					GTACTTTGCACGGGGCCTGCA	0.373000													Pancreas(1;98 122 5625 20895 49453)											0							SO:0001583	missense			ENST00000531273.1	1	1	hg19	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567229	0.45694	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.46	2.45	0.29901	Armadillo-like helical (1);Armadillo-type fold (1);	0.057722	0.64402	D	0.000002	T	0.31071	0.0785	M	0.66297	2.02	0.50313	D	0.999863	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.986;0.992;0.998	T	0.02075	-1.1218	10	0.87932	D	0	-6.7078	9.0068	0.36117	0.3685:0.5638:0.0:0.0677	.	328;382;371;382;382	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	W	371;382;328;382;382;197	ENSP00000399341:R371W;ENSP00000431391:R382W;ENSP00000402540:R328W;ENSP00000368129:R382W;ENSP00000434462:R382W;ENSP00000436436:R197W	ENSP00000368129:R382W	R	+	1	2	API5	43308107	0.977000	0.34250	0.982000	0.44146	0.282000	0.26991	1.421000	0.34815	0.672000	0.31204	-0.119000	0.15052	CGG		TCGA-IB-7651-01A-11D-2154-08	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	1	0	1	55	211	0	55	1	1	59	171	0	55	2		0	0	0	0	0	2	1	1	55	210	0	54	2								-3.575857	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC17	55761	broad.mit.edu	37	11	43418341	43418341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418341C>T	ENST00000039989.4	+	6	760	c.746C>T	c.(745-747)gCc>gTc	p.A249V	TTC17_ENST00000299240.6_Missense_Mutation_p.A249V|TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17			53					GTAGAATGTGCCATGCGAGCA	0.393000																								0							SO:0001583	missense			ENST00000039989.4	1	1	hg19	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398035	0.25205	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.54071	0.59;0.59	5.6	5.6	0.85130	.	0.096585	0.64402	D	0.000001	T	0.38665	0.1049	N	0.11064	0.09	0.45227	D	0.998237	B;B;B	0.11235	0.001;0.004;0.002	B;B;B	0.16722	0.005;0.007;0.016	T	0.13176	-1.0519	10	0.37606	T	0.19	-8.1257	19.5958	0.95536	0.0:1.0:0.0:0.0	.	249;249;249	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	249	ENSP00000299240:A249V;ENSP00000039989:A249V	ENSP00000039989:A249V	A	+	2	0	TTC17	43374917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.800000	0.69108	2.806000	0.96561	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	1	0	1	46	261	0	50	1	9.999738e-01	15	77	0	50	2		0	0	0	0	0	2	1	1	46	259	0	49	2								-3.148621	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TTC17	55761	broad.mit.edu	37	11	43418898	43418898	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418898C>T	ENST00000039989.4	+	7	789	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	TTC17_ENST00000299240.6_Splice_Site_p.H259Y|TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17			53					TTTCCTTAGGCACAATAAAGA	0.438000																								0							SO:0001630	splice_region_variant			ENST00000039989.4	1	0	hg19	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804898	0.70682	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.51574	0.7;0.7	5.92	5.92	0.95590	.	0.183710	0.64402	D	0.000012	T	0.38799	0.1054	N	0.19112	0.55	0.34736	D	0.730297	P;P;P	0.50443	0.824;0.545;0.935	B;B;B	0.43508	0.242;0.124;0.422	T	0.36768	-0.9734	10	0.21014	T	0.42	-12.6988	20.3206	0.98668	0.0:1.0:0.0:0.0	.	259;259;259	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Y	259	ENSP00000299240:H259Y;ENSP00000039989:H259Y	ENSP00000039989:H259Y	H	+	1	0	TTC17	43375474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.520000	0.60524	2.809000	0.96659	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	1	0	1	99	463	0	119	1	9.999958e-01	8	76	0	119	2		0	0	0	0	0	2	1	1	97	453	0	119	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC17	55761	broad.mit.edu	37	11	43423045	43423045	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000299240.6_Silent_p.C423C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17			53					GTTTACATTGCCAGTGGGACC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000039989.4	0	1	hg19	CCDS31466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	0	0	0	5	132	0	34	0	8.726744e-01	0	101	0	34	2		0	0	0	0	0	2	1	9.375179e-01	5	131	0	34	2								-7.625296	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.470000	0.180000	1.000000	0.410000	0.510049	0.470000	0	3.000000e-01	7.200000e-01
HSD17B12	51144	broad.mit.edu	37	11	43837021	43837021	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43837021A>G	ENST00000278353.4	+	5	545	c.426A>G	c.(424-426)gaA>gaG	p.E142E	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12			10					AGTATCCTGAATACTTTTTGG	0.313000													Ovarian(58;548 1143 13948 16572 34258)											0							SO:0001819	synonymous_variant			ENST00000278353.4	1	1	hg19	CCDS7905.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1	1	0	1	70	325	0	68	1	1	106	180	0	68	2		0	0	0	0	0	2	1	1	70	322	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52B4	143496	broad.mit.edu	37	11	4389036	4389036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4389036G>T	ENST00000408920.2	-	1	580	c.490C>A	c.(490-492)Ctt>Att	p.L164I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4			31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)			CTTTTTAAAAGAAATATGATA	0.353000																								0							SO:0001583	missense			ENST00000408920.2	1	1	hg19	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.228910	0.22542	.	.	ENSG00000221996	ENST00000408920	T	0.00099	8.73	5.29	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000260	T	0.00412	0.0013	M	0.89601	3.045	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47381	-0.9122	10	0.87932	D	0	.	2.8409	0.05528	0.2182:0.1229:0.5331:0.1258	.	164	Q8NGK2	O52B4_HUMAN	I	164	ENSP00000386160:L164I	ENSP00000386160:L164I	L	-	1	0	OR52B4	4345612	0.017000	0.18338	0.330000	0.25442	0.003000	0.03518	0.641000	0.24720	0.390000	0.25115	-0.140000	0.14226	CTT		TCGA-IB-7651-01A-11D-2154-08	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	1	0	1	76	365	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	75	360	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACCSL	390110	broad.mit.edu	37	11	44069708	44069708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44069708C>T	ENST00000378832.1	+	1	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like			34					CAGGCCATGACGGAGCACTTC	0.592000																								0							SO:0001583	missense			ENST00000378832.1	1	1	hg19	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	7.405	0.633456	0.14322	2.38E-4	1.18E-4	ENSG00000205126	ENST00000378832	T	0.68331	-0.32	4.08	-1.16	0.09678	.	2.565330	0.01198	N	0.007510	T	0.39809	0.1092	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20174	-1.0283	10	0.41790	T	0.15	3.8656	0.992	0.01459	0.4968:0.1605:0.1907:0.152	.	41	Q4AC99	1A1L2_HUMAN	M	41	ENSP00000368109:T41M	ENSP00000368109:T41M	T	+	2	0	ACCSL	44026284	0.043000	0.20138	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-0.323000	0.08602	-1.127000	0.01993	ACG		TCGA-IB-7651-01A-11D-2154-08	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	1	0	1	89	366	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	85	362	0	80	2								-3.592928	1	1	121034	22	45	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACCSL	390110	broad.mit.edu	37	11	44074969	44074969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44074969G>A	ENST00000378832.1	+	8	1018	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like			34					AAAAAGGTCCGAGGCCTTGTG	0.433000																								0							SO:0001583	missense			ENST00000378832.1	1	1	hg19	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933436	0.34096	.	.	ENSG00000205126	ENST00000378832	T	0.25749	1.78	4.45	-2.01	0.07410	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.408973	0.27677	N	0.018317	T	0.48589	0.1508	M	0.89214	3.015	0.30832	N	0.736595	D	0.67145	0.996	D	0.68039	0.955	T	0.54132	-0.8339	10	0.72032	D	0.01	-0.7774	9.967	0.41730	0.6527:0.0:0.3473:0.0	.	321	Q4AC99	1A1L2_HUMAN	Q	321	ENSP00000368109:R321Q	ENSP00000368109:R321Q	R	+	2	0	ACCSL	44031545	0.998000	0.40836	0.132000	0.22025	0.002000	0.02628	0.541000	0.23207	-0.521000	0.06426	-0.140000	0.14226	CGA		TCGA-IB-7651-01A-11D-2154-08	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	0	0	1	54	246	1	74		0	0	0	1	74	2		0	0	0	0	0	2	1	9.999999e-01	54	238	1	74	14								-3.021611	1	1	120804	1	28	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like			34					CTCTATTGCCGCTTCCTGGAC	0.542000																								0							SO:0001583	missense			ENST00000378832.1	1	1	hg19	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582545	0.28180	.	.	ENSG00000205126	ENST00000378832	D	0.90620	-2.7	5.61	2.64	0.31445	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.240127	0.43747	N	0.000526	D	0.84129	0.5404	L	0.41492	1.28	0.35045	D	0.760078	B	0.33857	0.429	B	0.34242	0.178	T	0.81411	-0.0945	10	0.39692	T	0.17	-4.0909	7.5089	0.27562	0.3487:0.0:0.6513:0.0	.	506	Q4AC99	1A1L2_HUMAN	H	506	ENSP00000368109:R506H	ENSP00000368109:R506H	R	+	2	0	ACCSL	44036718	0.135000	0.22499	0.329000	0.25429	0.576000	0.36127	1.083000	0.30815	0.366000	0.24427	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	1	0	1	99	476	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	99	464	0	127	2								-20.000000	1	1	120824	6	40	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACCS	84680	broad.mit.edu	37	11	44105286	44105286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44105286G>T	ENST00000263776.8	+	15	1884	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)			35					CAAATCCCAAGTGGCAGAAGA	0.627000													Esophageal Squamous(158;148 1889 8077 23160 41213)											0							SO:0001583	missense			ENST00000263776.8	1	1	hg19	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	5.760	0.324563	0.10900	.	.	ENSG00000110455	ENST00000263776	T	0.59772	0.24	5.38	1.32	0.21799	.	1.269890	0.05154	N	0.496626	T	0.38506	0.1043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	10	0.28530	T	0.3	-1.5062	5.4491	0.16552	0.2467:0.1441:0.6092:0.0	.	484	Q96QU6	1A1L1_HUMAN	L	484	ENSP00000263776:V484L	ENSP00000263776:V484L	V	+	1	0	ACCS	44061862	0.060000	0.20803	0.000000	0.03702	0.002000	0.02628	0.234000	0.17930	0.052000	0.16007	-0.140000	0.14226	GTG		TCGA-IB-7651-01A-11D-2154-08	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	1	0	0	10	186	0	34	1	3.634172e-01	2	21	0	34	2		0	0	0	0	0	2	1	9.970317e-01	10	185	0	34	2								-13.149580	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.620000	0.320000	1.000000	1.000000	0.650190	0.620000	0	4.500000e-01	8.600000e-01
EXT2	2132	broad.mit.edu	37	11	44129365	44129365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44129365C>A	ENST00000343631.3	+	2	232	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000395673.3_Missense_Mutation_p.L68M|EXT2_ENST00000533608.1_Missense_Mutation_p.L35M			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2			32					CATTGTCCTCCTGGGCCTCAT	0.512000			Mis, N, F, S			exostoses, osteosarcoma			Hereditary Multiple Exostoses					yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0							SO:0001583	missense	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	ENST00000343631.3	1	1	hg19	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755661	0.49362	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.45	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D;D	0.65815	0.974;0.991;0.995;0.98;0.98	P;P;P;P;P	0.60886	0.758;0.762;0.88;0.674;0.674	T	0.69537	-0.5119	10	0.72032	D	0.01	0.1963	12.1929	0.54280	0.0:0.8608:0.0:0.1392	.	35;35;35;35;48	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	M	35;35;35;35;68;35	ENSP00000431173:L35M;ENSP00000433827:L35M;ENSP00000434716:L35M;ENSP00000351509:L35M;ENSP00000379032:L68M;ENSP00000342656:L35M	ENSP00000342656:L35M	L	+	1	2	EXT2	44085941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	0.682000	0.31407	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	1	0	1	84	368	0	102	1	1	47	162	0	102	2		0	0	0	0	0	2	1	1	82	359	1	101	16								-2.997862	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXT2	2132	broad.mit.edu	37	11	44148421	44148421	+	Missense_Mutation	SNP	G	G	T	rs148493676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44148421G>T	ENST00000343631.3	+	6	1124	c.995G>T	c.(994-996)aGc>aTc	p.S332I	EXT2_ENST00000358681.4_Missense_Mutation_p.S332I|EXT2_ENST00000395673.3_Missense_Mutation_p.S365I|EXT2_ENST00000533608.1_Missense_Mutation_p.S332I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2			32					GCAGTATTGAGCGATGTGTTA	0.493000			Mis, N, F, S			exostoses, osteosarcoma			Hereditary Multiple Exostoses					yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0							SO:0001583	missense	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	ENST00000343631.3	0	1	hg19	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736694	0.49045	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	L	0.35593	1.075	0.80722	D	1	D;B;B;B;B	0.53619	0.961;0.127;0.104;0.21;0.21	P;B;B;B;B	0.55508	0.777;0.173;0.108;0.042;0.042	D	0.95629	0.8688	10	0.32370	T	0.25	-23.4442	19.9598	0.97242	0.0:0.0:1.0:0.0	.	332;332;332;332;345	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	332;332;365;332	ENSP00000431173:S332I;ENSP00000351509:S332I;ENSP00000379032:S365I;ENSP00000342656:S332I	ENSP00000342656:S332I	S	+	2	0	EXT2	44104997	1.000000	0.71417	0.994000	0.49952	0.356000	0.29392	9.731000	0.98807	2.716000	0.92895	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	0	0	0	14	910	0	147	1	9.190412e-01	5	278	0	147	2		0	0	0	0	0	2	1	9.997099e-01	14	890	0	147	2								-3.320005	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.180000	0.100000	1.000000	0.180000	0.221140	0.180000	0	1.300000e-01	2.500000e-01
EXT2	2132	broad.mit.edu	37	11	44253909	44253909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44253909C>T	ENST00000343631.3	+	11	1798	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000395673.3_Missense_Mutation_p.R590W|EXT2_ENST00000533608.1_Missense_Mutation_p.R557W			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2			32					TTAGGTCTGGCGGGAATTTCC	0.473000			Mis, N, F, S			exostoses, osteosarcoma			Hereditary Multiple Exostoses					yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0		GRCh37	CD010608	EXT2	D		SO:0001583	missense	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	ENST00000343631.3	1	1	hg19	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002631	0.74932	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.08	4.14	0.48551	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.997	D	0.94999	0.8141	10	0.87932	D	0	-6.3232	13.2204	0.59883	0.2891:0.7108:0.0:0.0	.	557;567;567;557;570	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	W	557;567;590;557	ENSP00000431173:R557W;ENSP00000351509:R567W;ENSP00000379032:R590W;ENSP00000342656:R557W	ENSP00000342656:R557W	R	+	1	2	EXT2	44210485	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.843000	0.62838	1.093000	0.41377	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	1	0	1	52	234	0	50	1	1	61	236	0	50	2		0	0	0	0	0	2	1	1	50	224	0	50	2								-3.135243	1	1	121412	3	34	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALX4	60529	broad.mit.edu	37	11	44296954	44296954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44296954C>T	ENST00000329255.3	-	2	824	c.721G>A	c.(721-723)Gtg>Atg	p.V241M		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4			16					CGCGCATACACGTCTGGGTAG	0.612000																								0							SO:0001583	missense			ENST00000329255.3	1	1	hg19	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045191	0.75846	.	.	ENSG00000052850	ENST00000329255	D	0.96265	-3.96	3.74	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.136421	0.48767	D	0.000171	D	0.97879	0.9303	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97755	1.0217	10	0.38643	T	0.18	.	15.7255	0.77756	0.0:1.0:0.0:0.0	.	241	Q9H161	ALX4_HUMAN	M	241	ENSP00000332744:V241M	ENSP00000332744:V241M	V	-	1	0	ALX4	44253530	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.623000	0.83113	1.929000	0.55896	0.455000	0.32223	GTG		TCGA-IB-7651-01A-11D-2154-08	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1	1	0	1	159	683	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1	157	674	0	148	2								-20.000000	1	1	121412	1	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM11	56981	broad.mit.edu	37	11	45246288	45246288	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45246288T>C	ENST00000530656.1	+	7	1365	c.1365T>C	c.(1363-1365)gtT>gtC	p.V455V	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Silent_p.V421V|PRDM11_ENST00000263765.4_Silent_p.V455V			Q9NQV5	PRD11_HUMAN	PR domain containing 11			26					AGAAGAAGGTTCGGGAGCTCC	0.547000													NSCLC(118;1511 1736 6472 36603 43224)											0							SO:0001819	synonymous_variant			ENST00000530656.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	1	0	1	280	1246	0	317	0	3.382897e-02	0	2	0	317	2		0	0	0	0	0	2	1	1	279	1223	0	316	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT13	57586	broad.mit.edu	37	11	45265679	45265679	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45265679G>T	ENST00000020926.3	-	6	1316	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII			23					GCTGCGCTCAGAGCCCGAGGT	0.647000																								0							SO:0001583	missense			ENST00000020926.3	1	1	hg19	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618315	0.66787	.	.	ENSG00000019505	ENST00000020926	T	0.06933	3.24	5.54	5.54	0.83059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.313001	0.29286	N	0.012600	T	0.12518	0.0304	L	0.47190	1.495	0.36781	D	0.884328	B	0.33448	0.412	B	0.34722	0.188	T	0.06023	-1.0850	10	0.59425	D	0.04	.	19.4948	0.95067	0.0:0.0:1.0:0.0	.	402	Q7L8C5	SYT13_HUMAN	Y	402	ENSP00000020926:S402Y	ENSP00000020926:S402Y	S	-	2	0	SYT13	45222255	1.000000	0.71417	0.947000	0.38551	0.937000	0.57800	7.622000	0.83099	2.615000	0.88500	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	1	0	1	86	321	0	75	1	1	305	233	0	75	2		0	0	0	0	0	2	1	1	85	314	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT13	57586	broad.mit.edu	37	11	45307687	45307687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45307687G>T	ENST00000020926.3	-	1	183	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII			23					AGGTGACCCCGCACAACGCGA	0.706000																								0							SO:0001587	stop_gained			ENST00000020926.3	0	1	hg19	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656339	0.88056	.	.	ENSG00000019505	ENST00000020926	.	.	.	3.75	0.564	0.17302	.	0.000000	0.64402	U	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.6769	0.28490	0.3094:0.0:0.6906:0.0	.	.	.	.	X	24	.	ENSP00000020926:C24X	C	-	3	2	SYT13	45264263	0.998000	0.40836	1.000000	0.80357	0.328000	0.28507	0.454000	0.21827	0.079000	0.16929	-0.680000	0.03767	TGC		TCGA-IB-7651-01A-11D-2154-08	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	1	0	0	17	51	0	12	1	1	81	105	0	12	2		0	0	0	0	0	2	1	9.999862e-01	17	51	0	12	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
SLC35C1	55343	broad.mit.edu	37	11	45832503	45832503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45832503G>A	ENST00000314134.3	+	2	2108	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1			10					CAACGTCAACGCCTGCATCCT	0.627000																								0							SO:0001583	missense			ENST00000314134.3	1	1	hg19	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291539	0.95546	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.68765	-0.35;-0.35;-0.35	6.17	6.17	0.99709	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.82711	-0.0322	10	0.39692	T	0.17	-43.6867	20.8794	0.99867	0.0:0.0:1.0:0.0	.	238	Q96A29	FUCT1_HUMAN	T	225;225;159;238;238	ENSP00000412408:A225T;ENSP00000399779:A225T;ENSP00000313318:A238T	ENSP00000313318:A238T	A	+	1	0	SLC35C1	45789079	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	9.570000	0.98174	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	1	0	1	58	233	0	51	1	1	99	178	0	51	2		0	0	0	0	0	2	1	1	55	229	0	51	2								-20.000000	1	1	121412	3	34	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK8IP1	9479	broad.mit.edu	37	11	45924210	45924210	+	Missense_Mutation	SNP	G	G	A	rs141639373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45924210G>A	ENST00000241014.2	+	5	1062	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.A288T	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1			24					GCCCACCTCCGCCTTCCTGCC	0.662000																								0							SO:0001583	missense			ENST00000241014.2	1	1	hg19	CCDS7916.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.492	0.650899	0.14516	4.54E-4	1.16E-4	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.36157	1.27;1.27	4.58	1.52	0.23074	.	0.564273	0.19607	N	0.110250	T	0.13200	0.0320	N	0.12182	0.205	0.21064	N	0.999796	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.02654	T	1	-13.8899	2.9285	0.05792	0.1779:0.1808:0.5165:0.1248	.	298	Q9UQF2	JIP1_HUMAN	T	298;288	ENSP00000241014:A298T;ENSP00000378991:A288T	ENSP00000241014:A298T	A	+	1	0	MAPK8IP1	45880786	0.001000	0.12720	0.573000	0.28510	0.710000	0.40934	0.934000	0.28910	0.219000	0.20840	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	1	0	1	52	175	0	34	0	9.847726e-01	0	25	0	34	2		0	0	0	0	0	2	1	1	51	167	0	34	2								-4.116279	1	1	121346	8	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C11orf94	143678	broad.mit.edu	37	11	45928146	45928146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928146C>T	ENST00000449465.1	-	3	307	c.271G>A	c.(271-273)Gag>Aag	p.E91K	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94			7					TAGTAATACTCGGCAAGGTCG	0.607000																								0							SO:0001583	missense			ENST00000449465.1	1	1	hg19	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536627	0.45176	0.0	1.21E-4	ENSG00000234776	ENST00000449465	T	0.53206	0.63	4.66	4.66	0.58398	.	.	.	.	.	T	0.53174	0.1780	.	.	.	0.31659	N	0.64586	D	0.56521	0.976	P	0.47981	0.563	T	0.63580	-0.6605	8	0.62326	D	0.03	-14.8082	17.7516	0.88436	0.0:1.0:0.0:0.0	.	91	C9JXX5	CK094_HUMAN	K	91	ENSP00000401498:E91K	ENSP00000401498:E91K	E	-	1	0	C11orf94	45884722	0.983000	0.35010	0.918000	0.36340	0.016000	0.09150	2.674000	0.46867	2.419000	0.82065	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	0	0	1	89	486	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	86	480	0	106	2								-3.019061	1	1	120816	33	46	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C11orf94	143678	broad.mit.edu	37	11	45928432	45928432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928432C>T	ENST00000449465.1	-	2	199	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94			7					TCCACCAGGCCGGAAAGTGGC	0.617000																								0							SO:0001583	missense			ENST00000449465.1	1	0	hg19	CCDS44577.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832458	0.50845	.	.	ENSG00000234776	ENST00000449465	T	0.54675	0.56	4.73	2.84	0.33178	.	.	.	.	.	T	0.41119	0.1145	.	.	.	0.27540	N	0.950833	P	0.38020	0.615	B	0.33121	0.158	T	0.26710	-1.0095	8	0.87932	D	0	-4.7454	9.5199	0.39129	0.0:0.8542:0.0:0.1458	.	55	C9JXX5	CK094_HUMAN	S	55	ENSP00000401498:G55S	ENSP00000401498:G55S	G	-	1	0	C11orf94	45885008	0.897000	0.30589	0.264000	0.24511	0.265000	0.26407	1.715000	0.37971	0.422000	0.26005	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	1	0	1	71	414	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	1	68	409	0	97	2								-3.143265	1	1	120948	20	45	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GYLTL1B	120071	broad.mit.edu	37	11	45948141	45948141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45948141C>A	ENST00000531526.1	+	9	1268	c.1157C>A	c.(1156-1158)gCt>gAt	p.A386D	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B			22					CCACCTGGTGCTGAGCAGGTG	0.592000																								0							SO:0001583	missense			ENST00000531526.1	1	1	hg19	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394301	0.25205	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.82893	0.92;0.93;0.93;-1.66;0.93;0.92	5.45	4.53	0.55603	.	0.349496	0.30686	N	0.009081	T	0.70202	0.3197	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29955	0.129;0.263;0.138	B;B;B	0.26614	0.071;0.045;0.065	T	0.57568	-0.7789	10	0.26408	T	0.33	-3.7422	8.1499	0.31134	0.0:0.7569:0.1576:0.0854	.	355;355;386	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	D	355;386;386;113;386;355;47	ENSP00000431932:A355D;ENSP00000432869:A386D;ENSP00000385235:A386D;ENSP00000374618:A113D;ENSP00000324570:A386D;ENSP00000445044:A355D	ENSP00000324570:A386D	A	+	2	0	GYLTL1B	45904717	0.001000	0.12720	0.159000	0.22649	0.527000	0.34593	0.440000	0.21592	1.284000	0.44531	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	1	0	1	49	217	0	35	1	9.998855e-01	22	41	0	35	2		0	0	0	0	0	2	1	1	49	212	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF21A	51317	broad.mit.edu	37	11	45992707	45992707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45992707G>A	ENST00000418153.2	-	7	771	c.572C>T	c.(571-573)gCa>gTa	p.A191V	PHF21A_ENST00000257821.4_Missense_Mutation_p.A191V|PHF21A_ENST00000323180.6_Missense_Mutation_p.A191V			Q96BD5	PF21A_HUMAN	PHD finger protein 21A			29					GACAGCCTCTGCCCCAGGCCC	0.512000																								0							SO:0001583	missense			ENST00000418153.2	1	1	hg19	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451365	0.84209	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.51574	0.7;0.7;0.7	5.59	5.59	0.84812	.	0.153764	0.64402	D	0.000015	T	0.54631	0.1870	L	0.54323	1.7	0.58432	D	0.999991	B;D	0.55605	0.265;0.972	B;P	0.48488	0.054;0.579	T	0.55244	-0.8171	10	0.49607	T	0.09	-7.3342	19.5907	0.95509	0.0:0.0:1.0:0.0	.	191;191	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	V	191	ENSP00000257821:A191V;ENSP00000323152:A191V;ENSP00000398824:A191V	ENSP00000257821:A191V	A	-	2	0	PHF21A	45949283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.822000	0.92013	2.640000	0.89533	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	1	0	1	47	176	0	52	1	9.994793e-01	4	42	0	52	2		0	0	0	0	0	2	1	1	45	173	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52I2	143502	broad.mit.edu	37	11	4608230	4608230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608230C>A	ENST00000312614.4	+	1	210	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2			19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			TCACTGAGTGCCATGTACATC	0.493000																								0							SO:0001583	missense			ENST00000312614.4	1	1	hg19	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	4.604	0.112313	0.08831	.	.	ENSG00000226288	ENST00000312614	T	0.01106	5.33	4.1	-1.4	0.08968	.	1.354880	0.05027	N	0.473901	T	0.01940	0.0061	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.23574	0.047	T	0.47459	-0.9116	10	0.35671	T	0.21	-0.0649	8.724	0.34458	0.0:0.4359:0.0:0.5641	.	63	Q8NH67	O52I2_HUMAN	D	63	ENSP00000308764:A63D	ENSP00000308764:A63D	A	+	2	0	OR52I2	4564806	0.000000	0.05858	0.032000	0.17829	0.220000	0.24768	-1.719000	0.01873	-0.171000	0.10797	0.552000	0.68991	GCC		TCGA-IB-7651-01A-11D-2154-08	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	1	0	1	170	909	0	242		0	0	0	0	242	2		0	0	0	0	0	2	1	1	163	850	0	265	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52I2	143502	broad.mit.edu	37	11	4608988	4608988	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608988G>T	ENST00000312614.4	+	1	968	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2			19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			GATCATCCCAGCCACCTTAAA	0.522000																								0							SO:0001583	missense			ENST00000312614.4	1	1	hg19	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245293	0.22796	.	.	ENSG00000226288	ENST00000312614	T	0.62788	-0.0	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.499351	0.16881	N	0.195686	T	0.41026	0.1141	N	0.12182	0.205	0.25894	N	0.983433	B	0.22003	0.063	B	0.17433	0.018	T	0.35943	-0.9768	10	0.87932	D	0	-4.6209	8.0732	0.30701	0.0:0.7377:0.1695:0.0927	.	316	Q8NH67	O52I2_HUMAN	S	316	ENSP00000308764:A316S	ENSP00000308764:A316S	A	+	1	0	OR52I2	4565564	0.000000	0.05858	0.973000	0.42090	0.344000	0.29017	-0.301000	0.08232	0.429000	0.26202	-0.936000	0.02699	GCC		TCGA-IB-7651-01A-11D-2154-08	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	1	0	0	64	695	0	184		0	0	0	0	184	2		0	0	0	0	0	2	1	1	64	680	0	181	2								-15.643140	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.770000	1.000000	1.000000	0.955750	0.990000	1	8.800000e-01	1
OR52I1	390037	broad.mit.edu	37	11	4615444	4615444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615444G>A	ENST00000530443.2	+	1	176	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	OR52I1_ENST00000450052.2_Missense_Mutation_p.R83Q	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1			15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			GATTCCACTCGGCATGAGCCC	0.512000																								0							SO:0001583	missense			ENST00000530443.2	1	1	hg19	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	g	7.180	0.589398	0.13812	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.02974	4.09;4.09	4.63	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	N	0.002662	T	0.01661	0.0053	N	0.08118	0	0.18873	N	0.999988	B	0.20780	0.048	B	0.12837	0.008	T	0.30851	-0.9964	9	0.87932	D	0	-0.5677	5.7199	0.17980	0.0:0.0885:0.3218:0.5897	.	59	Q8NGK6	O52I1_HUMAN	Q	83;59	ENSP00000409094:R83Q;ENSP00000436453:R59Q	ENSP00000409094:R83Q	R	+	2	0	OR52I1	4572020	0.042000	0.20092	0.689000	0.30133	0.062000	0.15995	0.900000	0.28431	0.022000	0.15160	-2.279000	0.00272	CGG		TCGA-IB-7651-01A-11D-2154-08	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	1	0	1	180	607	0	137		0	0	0	0	137	2		0	0	0	0	0	2	1	1	164	532	0	165	2								-4.373545	1	1	121412	8	42	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52I1	390037	broad.mit.edu	37	11	4615645	4615645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615645G>A	ENST00000530443.2	+	1	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	OR52I1_ENST00000450052.2_Missense_Mutation_p.R150H	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1			15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			GCTTTTGACCGCTATGTAGCC	0.502000																								0							SO:0001583	missense			ENST00000530443.2	0	1	hg19	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498814	0.64298	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	D;D	0.97161	-4.27;-4.27	4.96	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000351	D	0.98501	0.9500	M	0.92459	3.31	0.35022	D	0.757953	D	0.89917	1.0	D	0.68765	0.96	D	0.99944	1.1445	9	0.62326	D	0.03	-0.2042	11.6875	0.51494	0.0865:0.0:0.9135:0.0	.	126	Q8NGK6	O52I1_HUMAN	H	150;126	ENSP00000409094:R150H;ENSP00000436453:R126H	ENSP00000409094:R150H	R	+	2	0	OR52I1	4572221	0.442000	0.25633	1.000000	0.80357	0.682000	0.39822	3.290000	0.51755	1.470000	0.48102	-0.226000	0.12346	CGC		TCGA-IB-7651-01A-11D-2154-08	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	0	0	0	35	185	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	25	154	0	53	2								-18.544950	1	1	121404	8	35	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
OR52I1	390037	broad.mit.edu	37	11	4615834	4615834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615834C>T	ENST00000530443.2	+	1	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	OR52I1_ENST00000450052.2_Missense_Mutation_p.A213V	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1			15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			ATAGCTTTGGCCAGGTTAGCA	0.502000																								0							SO:0001583	missense			ENST00000530443.2	1	1	hg19	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740802	0.30865	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.73047	-0.71;-0.71	4.96	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.156467	0.29830	N	0.011084	T	0.55033	0.1895	L	0.31371	0.925	0.28777	N	0.900046	B	0.22276	0.067	B	0.25140	0.058	T	0.58978	-0.7540	9	0.33940	T	0.23	-8.131	6.7541	0.23503	0.0:0.7797:0.0:0.2203	.	189	Q8NGK6	O52I1_HUMAN	V	213;189	ENSP00000409094:A213V;ENSP00000436453:A189V	ENSP00000409094:A213V	A	+	2	0	OR52I1	4572410	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.420000	0.21263	1.371000	0.46172	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	0	0	0	30	834	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	1	28	802	0	189	2								-2.574418	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.410000	0.280000	1.000000	0.410000	0.442603	0.410000	0	3.400000e-01	5.100000e-01
TRIM68	55128	broad.mit.edu	37	11	4626372	4626372	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626372G>A	ENST00000300747.5	-	2	652	c.363C>T	c.(361-363)agC>agT	p.S121S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68			15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)			CTGGGGACTGGCTGCAGGCCT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000300747.5	1	1	hg19	CCDS31356.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	0	0	0	30	458	0	91	0	1.294872e-01	1	9	0	91	2		0	0	0	0	0	2	1	1	30	448	0	92	2								-6.831704	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.730000	0.500000	1.000000	1.000000	0.748307	0.730000	0	6.100000e-01	8.900000e-01
TRIM68	55128	broad.mit.edu	37	11	4626710	4626710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626710C>A	ENST00000300747.5	-	2	314	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68			15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)			TCCACAATGGCTTCCACCAAG	0.512000																								0							SO:0001583	missense			ENST00000300747.5	1	1	hg19	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256711	0.39896	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84223	-1.82;-1.82	4.41	3.4	0.38934	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.43416	D	0.000562	T	0.74824	0.3767	N	0.04655	-0.195	0.30812	N	0.738715	D;B	0.69078	0.997;0.192	P;B	0.55785	0.784;0.1	T	0.69873	-0.5027	10	0.16896	T	0.51	.	9.5446	0.39273	0.0:0.7847:0.2153:0.0	.	9;9	E9PR29;Q6AZZ1	.;TRI68_HUMAN	S	9	ENSP00000300747:A9S;ENSP00000436112:A9S	ENSP00000300747:A9S	A	-	1	0	TRIM68	4583286	0.002000	0.14202	0.995000	0.50966	0.957000	0.61999	0.808000	0.27154	2.387000	0.81309	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	1	0	1	62	327	0	74	0	8.271465e-01	1	18	0	74	2		0	0	0	0	0	2	1	1	63	320	0	74	2								-3.328724	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CREB3L1	90993	broad.mit.edu	37	11	46332593	46332593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46332593G>A	ENST00000529193.1	+	5	1057	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CREB3L1_ENST00000288400.3_Silent_p.V202V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1		FUS/CREB3L1(6)	12					AGGACCTGGTGCAGATGCCTC	0.637000			T	FUS	myxofibrosarcoma								Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0							SO:0001819	synonymous_variant			ENST00000529193.1	1	1	hg19	CCDS53620.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	1	0	1	113	484	0	113	1	1	85	143	0	113	2		0	0	0	0	0	2	1	1	111	475	0	111	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CREB3L1	90993	broad.mit.edu	37	11	46341984	46341984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46341984C>T	ENST00000529193.1	+	11	1879	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	CREB3L1_ENST00000288400.3_Silent_p.H476H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1		FUS/CREB3L1(6)	12					ACAGCACCCACGAGACCACCA	0.652000			T	FUS	myxofibrosarcoma								Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0							SO:0001819	synonymous_variant			ENST00000529193.1	1	1	hg19	CCDS53620.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	1	0	1	22	76	0	18	1	1	155	324	0	18	2		0	0	0	0	0	2	1	9.999996e-01	22	76	0	18	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
CREB3L1	90993	broad.mit.edu	37	11	46342045	46342045	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46342045G>A	ENST00000529193.1	+	11	1940	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1		FUS/CREB3L1(6)	12					CACCAGCCCCGACTTCTCCCA	0.632000			T	FUS	myxofibrosarcoma								Pancreas(3;159 194 19597 26278 47995)		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0							SO:0001583	missense			ENST00000529193.1	0	1	hg19	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400389	0.25291	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.63417	-0.04;-0.04	4.69	0.622	0.17648	.	0.410430	0.21415	N	0.074914	T	0.46092	0.1375	L	0.36672	1.1	0.21861	N	0.999502	B;B	0.18863	0.031;0.002	B;B	0.13407	0.009;0.001	T	0.26360	-1.0105	10	0.30854	T	0.27	5.5209	8.3401	0.32239	0.4625:0.0:0.5375:0.0	.	409;497	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	N	497;497;409	ENSP00000434939:D497N;ENSP00000288400:D497N	ENSP00000288400:D497N	D	+	1	0	CREB3L1	46298621	0.999000	0.42202	0.933000	0.37362	0.944000	0.59088	2.068000	0.41471	-0.156000	0.11079	0.430000	0.28490	GAC		TCGA-IB-7651-01A-11D-2154-08	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	1	0	0	15	54	0	8	1	1	148	204	0	8	2		0	0	0	0	0	2	1	9.999174e-01	14	53	0	8	2								-20.000000	1	0	120476	5	28	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999870	0.990000	1	9.900000e-01	1
DGKZ	8525	broad.mit.edu	37	11	46387834	46387834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387834C>T	ENST00000454345.1	+	2	153	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta			25					GAGACATTTCCGGGGGAAGGT	0.677000																								0							SO:0001583	missense			ENST00000454345.1	0	1	hg19	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113186	0.37339	2.73E-4	0.0	ENSG00000149091	ENST00000454345	T	0.72942	-0.7	4.53	3.48	0.39840	.	0.514132	0.14134	N	0.339146	T	0.51160	0.1658	N	0.24115	0.695	0.80722	D	1	P	0.49635	0.926	B	0.36504	0.226	T	0.57596	-0.7784	10	0.72032	D	0.01	.	8.4214	0.32703	0.2481:0.6147:0.1372:0.0	.	10	Q13574	DGKZ_HUMAN	W	10	ENSP00000412178:R10W	ENSP00000412178:R10W	R	+	1	2	DGKZ	46344410	1.000000	0.71417	0.999000	0.59377	0.470000	0.32858	3.810000	0.55613	2.234000	0.73211	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	1	0	1	14	97	0	13	0	1.863065e-02	0	2	0	13	2		0	0	0	0	0	2	1	9.998095e-01	13	96	0	13	2								-19.997150	1	0	118488	4	24	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.860000	1.000000	1.000000	0.992075	0.990000	1	9.900000e-01	1
DGKZ	8525	broad.mit.edu	37	11	46387913	46387913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387913G>A	ENST00000454345.1	+	2	232	c.107G>A	c.(106-108)cGc>cAc	p.R36H	DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta			25					GCCCGGCGTCGCTCCCCCGCT	0.716000																								0							SO:0001583	missense			ENST00000454345.1	0	1	hg19	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449932	0.84101	.	.	ENSG00000149091	ENST00000454345	T	0.81330	-1.48	4.53	4.53	0.55603	.	0.707951	0.11658	N	0.542176	D	0.83658	0.5302	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	D	0.84401	0.0560	10	0.87932	D	0	.	17.6789	0.88237	0.0:0.0:1.0:0.0	.	36	Q13574	DGKZ_HUMAN	H	36	ENSP00000412178:R36H	ENSP00000412178:R36H	R	+	2	0	DGKZ	46344489	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	8.687000	0.91255	2.234000	0.73211	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	0	0	0	5	43	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.410626e-01	5	43	0	8	2								-12.933900	1	0	114548	2	25	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.490000	1.000000	1.000000	0.928791	0.990000	1	8.000000e-01	1
DGKZ	8525	broad.mit.edu	37	11	46399765	46399765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46399765C>A	ENST00000454345.1	+	27	3049	c.2924C>A	c.(2923-2925)gCt>gAt	p.A975D	DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|MIR4688_ENST00000577966.1_RNA|MDK_ENST00000405308.2_5'Flank|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D|DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta			25					CAAGGGGATGCTGCACCCCCT	0.657000																								0							SO:0001583	missense			ENST00000454345.1	1	1	hg19	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010579	0.19277	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.24908	2.37;2.56;2.55;2.6;2.81;3.56;2.37;2.43;2.55;1.83	3.71	2.75	0.32379	.	0.914548	0.09154	U	0.841129	T	0.19525	0.0469	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.14438	0.0;0.01;0.001;0.0;0.0;0.0;0.002;0.006;0.003	B;B;B;B;B;B;B;B;B	0.11329	0.001;0.004;0.001;0.001;0.001;0.002;0.005;0.003;0.006	T	0.31861	-0.9928	10	0.13108	T	0.6	.	8.3404	0.32241	0.2347:0.7653:0.0:0.0	.	764;752;730;787;975;786;787;753;803	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	D	803;565;753;752;139;787;786;787;764;975	ENSP00000343065:A803D;ENSP00000434719:A565D;ENSP00000378941:A753D;ENSP00000436273:A752D;ENSP00000438417:A139D;ENSP00000436291:A787D;ENSP00000395684:A786D;ENSP00000391021:A787D;ENSP00000320340:A764D;ENSP00000412178:A975D	ENSP00000320340:A764D	A	+	2	0	DGKZ	46356341	0.000000	0.05858	0.018000	0.16275	0.090000	0.18270	0.707000	0.25704	1.090000	0.41315	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	1	0	1	11	54	0	18	1	9.985958e-01	16	47	0	18	2		0	0	0	0	0	2	1	9.988278e-01	11	54	0	17	2								-19.755280	1	1	121002	2	24	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.997490	0.990000	1	9.900000e-01	1
MDK	4192	broad.mit.edu	37	11	46404188	46404188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46404188G>A	ENST00000405308.2	+	4	725	c.296G>A	c.(295-297)gGc>gAc	p.G99D	MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000395569.4_Missense_Mutation_p.G43D|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000407067.1_Missense_Mutation_p.G99D	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)			1					GGGGGCACAGGCACCAAAGTC	0.657000																								0							SO:0001583	missense			ENST00000405308.2	1	1	hg19	CCDS7919.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709696	0.89018	.	.	ENSG00000110492	ENST00000405308;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395569;ENST00000395566;ENST00000407067;ENST00000395565	.	.	.	4.83	4.83	0.62350	Midkine heparin-binding growth factor, N-terminal (1);Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.	.	.	.	T	0.79488	0.4454	M	0.75264	2.295	0.47276	D	0.999377	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.971;0.992;0.989	T	0.81667	-0.0829	8	0.72032	D	0.01	.	18.4742	0.90786	0.0:0.0:1.0:0.0	.	43;99;99	Q2LEK4;E9PLM6;P21741	.;.;MK_HUMAN	D	99;99;99;99;43;99;99;99	.	ENSP00000352852:G99D	G	+	2	0	MDK	46360764	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	2.946000	0.49050	2.686000	0.91538	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317546.2	1	0	1	31	98	0	41	1	1	398	841	0	41	2		0	0	0	0	0	2	1	1	31	97	0	40	2								-19.999160	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRM4	1132	broad.mit.edu	37	11	46407334	46407334	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46407334C>A	ENST00000433765.2	-	1	773	c.774G>T	c.(772-774)ccG>ccT	p.P258P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4			20				Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCCCCGGGCGGGGGCTTCT	0.687000													Esophageal Squamous(171;1020 1936 4566 30205 42542)											0							SO:0001819	synonymous_variant			ENST00000433765.2	0	1	hg19	CCDS44581.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	1	0	0	5	79	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	9.375482e-01	5	78	0	21	2								-9.414986	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.750000	0.290000	1.000000	1.000000	0.741084	0.750000	0	4.800000e-01	1
AMBRA1	55626	broad.mit.edu	37	11	46419133	46419133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419133G>A	ENST00000458649.2	-	18	4182	c.3764C>T	c.(3763-3765)cCc>cTc	p.P1255L	AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1			39					AACAGGAATGGGGACAGGGGA	0.647000																								0							SO:0001583	missense			ENST00000458649.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.631	0.893776	0.17613	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.71103	-0.37;-0.54;-0.13;-0.26;-0.13;-0.23;-0.26	4.22	1.13	0.20643	.	0.389476	0.24027	N	0.042225	T	0.48333	0.1494	N	0.19112	0.55	0.27832	N	0.941416	B;B;B;B;B;B	0.33238	0.18;0.275;0.275;0.275;0.403;0.275	B;B;B;B;B;B	0.25291	0.011;0.025;0.025;0.025;0.059;0.025	T	0.45659	-0.9246	10	0.87932	D	0	.	7.394	0.26926	0.0:0.3543:0.463:0.1826	.	1255;1226;1195;1136;1258;1165	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	L	1165;1136;1195;1226;1195;1255;213;1226	ENSP00000318313:P1165L;ENSP00000433372:P1136L;ENSP00000431926:P1195L;ENSP00000410899:P1226L;ENSP00000298834:P1195L;ENSP00000415327:P1255L;ENSP00000433945:P1226L	ENSP00000298834:P1195L	P	-	2	0	AMBRA1	46375709	0.898000	0.30612	0.201000	0.23476	0.011000	0.07611	1.646000	0.37249	0.267000	0.21916	-0.314000	0.08810	CCC		TCGA-IB-7651-01A-11D-2154-08	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	1	0	0	14	248	0	34	1	9.321080e-01	6	78	0	34	2		0	0	0	0	0	2	0	1.020226e-01	14	244	1	34	22								-3.228033	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.640000	0.370000	1.000000	1.000000	0.669625	0.640000	0	4.900000e-01	8.500000e-01
AMBRA1	55626	broad.mit.edu	37	11	46419227	46419227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419227G>A	ENST00000458649.2	-	18	4088	c.3670C>T	c.(3670-3672)Cga>Tga	p.R1224*	AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1			39					CTTAGGCCTCGCTCTGCCAGT	0.692000																								0							SO:0001587	stop_gained			ENST00000458649.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.65	3.182655	0.57800	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	.	.	.	5.35	5.35	0.76521	.	0.127211	0.36778	N	0.002407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4218	0.87517	0.0:0.0:1.0:0.0	.	.	.	.	X	1134;1105;1164;1195;1164;1224;182;1195	.	ENSP00000298834:R1164X	R	-	1	2	AMBRA1	46375803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.832000	0.69337	2.791000	0.96007	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	1	0	1	54	247	0	57	1	9.999872e-01	27	51	0	57	2		0	0	0	0	0	2	1	1	52	243	0	56	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMBRA1	55626	broad.mit.edu	37	11	46430125	46430125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46430125G>A	ENST00000458649.2	-	17	3759	c.3341C>T	c.(3340-3342)gCc>gTc	p.A1114V	AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1			39					CTGTGTTTCGGCATTCTGCAG	0.632000																								0							SO:0001583	missense			ENST00000458649.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.524635	0.96431	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.80123	-1.31;-1.34;-1.02;-1.13;-1.02;-1.16;-1.13	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D	0.71674	0.993;0.996;0.996;0.996;0.998;0.996	D;D;D;D;D;D	0.80764	0.978;0.99;0.99;0.99;0.994;0.99	D	0.87026	0.2132	10	0.87932	D	0	.	19.4943	0.95065	0.0:0.0:1.0:0.0	.	1114;1085;1054;995;1117;1024	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	1024;995;1054;1085;1054;1114;72;1085	ENSP00000318313:A1024V;ENSP00000433372:A995V;ENSP00000431926:A1054V;ENSP00000410899:A1085V;ENSP00000298834:A1054V;ENSP00000415327:A1114V;ENSP00000433945:A1085V	ENSP00000298834:A1054V	A	-	2	0	AMBRA1	46386701	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	9.286000	0.95898	2.677000	0.91161	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	1	0	1	34	173	0	49	1	9.999829e-01	15	75	0	49	2		0	0	0	0	0	2	1	1	33	168	0	49	2								-3.368086	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
HARBI1	283254	broad.mit.edu	37	11	46637220	46637220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46637220C>T	ENST00000326737.3	-	2	815	c.568G>A	c.(568-570)Gag>Aag	p.E190K	ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000451945.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1			3					CAGTTTGTCTCCACGGTCATT	0.512000																								0							SO:0001583	missense			ENST00000326737.3	1	1	hg19	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750490	0.89753	.	.	ENSG00000180423	ENST00000326737	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.68593	2.085	0.80722	D	1	P	0.48230	0.907	P	0.47915	0.561	T	0.67280	-0.5710	9	0.29301	T	0.29	-22.794	18.2823	0.90102	0.0:1.0:0.0:0.0	.	190	Q96MB7	HARB1_HUMAN	K	190	.	ENSP00000317743:E190K	E	-	1	0	HARBI1	46593796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.311000	0.77944	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	1	0	1	218	791	0	199	1	9.579539e-01	7	14	0	199	2		0	0	0	0	0	2	1	1	213	772	0	198	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP1	392	broad.mit.edu	37	11	46717607	46717607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46717607G>A	ENST00000311956.4	-	2	148	c.51C>T	c.(49-51)agC>agT	p.S17S		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1			11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)			TCAGAGCCTCGCTGGTGTCAT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000311956.4	0	1	hg19	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176617	0.21704	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.2	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7415	0.40420	0.3428:0.0:0.6572:0.0	.	.	.	.	X	15	.	.	R	-	1	2	ARHGAP1	46674183	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.364000	0.34171	0.614000	0.30107	-0.234000	0.12200	CGA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	0	0	0	19	89	0	21	1	1	61	212	0	21	2		0	0	0	0	0	2	1	9.999952e-01	19	89	0	21	2								-20.000000	1	1	121408	4	32	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999836	0.990000	1	9.900000e-01	1
ZNF408	79797	broad.mit.edu	37	11	46726259	46726259	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726259C>T	ENST00000311764.2	+	5	1239	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408			21					TACACTCTCGCGGAGCCCTCC	0.612000													Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											0							SO:0001583	missense			ENST00000311764.2	0	1	hg19	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101267	0.56183	.	.	ENSG00000175213	ENST00000311764	T	0.11495	2.77	5.15	-4.77	0.03219	.	1.687110	0.04210	N	0.331573	T	0.06142	0.0159	N	0.24115	0.695	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.06405	0.002;0.002	T	0.38693	-0.9649	10	0.44086	T	0.13	-1.3523	2.1234	0.03731	0.2313:0.3455:0.2797:0.1436	.	329;337	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	337	ENSP00000309606:R337W	ENSP00000309606:R337W	R	+	1	2	ZNF408	46682835	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.102000	0.10956	-0.517000	0.06461	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	0	0	0	10	448	1	92	0	3.463320e-02	1	47	1	92	4		0	0	0	0	0	2	0	1.079463e-01	11	437	1	90	17								-4.046058	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.270000	0.130000	1.000000	0.250000	0.306952	0.270000	0	1.900000e-01	3.800000e-01
ZNF408	79797	broad.mit.edu	37	11	46726961	46726961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726961C>T	ENST00000311764.2	+	5	1941	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408			21					AGCTCACGAGCGCCTGCACTC	0.652000													Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											0							SO:0001583	missense			ENST00000311764.2	1	1	hg19	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299337	0.60195	.	.	ENSG00000175213	ENST00000311764	T	0.25749	1.78	5.23	3.24	0.37175	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000535	T	0.29491	0.0735	M	0.79123	2.44	0.52501	D	0.999957	P;P	0.47253	0.892;0.892	B;B	0.42112	0.376;0.376	T	0.14420	-1.0473	10	0.87932	D	0	-33.5023	7.5133	0.27585	0.0:0.7036:0.1398:0.1566	.	563;571	B4DXY4;Q9H9D4	.;ZN408_HUMAN	C	571	ENSP00000309606:R571C	ENSP00000309606:R571C	R	+	1	0	ZNF408	46683537	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.502000	0.35704	1.205000	0.43262	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	1	0	1	34	166	0	42	1	9.896423e-01	14	22	0	42	2		0	0	0	0	0	2	1	1	34	163	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
OR51E1	143503	broad.mit.edu	37	11	4674108	4674108	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4674108C>A	ENST00000396952.5	+	2	1002	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1			30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)			ATCCACAGTGCTGCTGGCCAT	0.522000																								0							SO:0001583	missense			ENST00000396952.5	1	1	hg19	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388700	0.61956	.	.	ENSG00000180785	ENST00000396952	D	0.86366	-2.11	4.66	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000652	D	0.93690	0.7984	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93031	0.6448	10	0.87932	D	0	.	9.6807	0.40067	0.0:0.8297:0.0:0.1703	.	117	Q8TCB6	O51E1_HUMAN	M	118	ENSP00000380155:L118M	ENSP00000380155:L118M	L	+	1	2	OR51E1	4630684	0.454000	0.25728	0.997000	0.53966	0.989000	0.77384	1.137000	0.31479	0.593000	0.29745	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	1	0	1	62	269	0	63	0	2.403277e-01	0	5	0	63	2		0	0	0	0	0	2	1	1	62	261	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
F2	2147	broad.mit.edu	37	11	46744800	46744800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46744800C>T	ENST00000311907.5	+	5	443	c.387C>T	c.(385-387)tgC>tgT	p.C129C	F2_ENST00000530231.1_Silent_p.C129C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)			27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GCATTGAGTGCCAGCTATGGA	0.607000													Esophageal Squamous(147;1147 1808 2148 38609 51144)											0							SO:0001819	synonymous_variant			ENST00000311907.5	1	1	hg19	CCDS31476.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1	1	0	0	33	744	0	175		0	0	0	0	175	2		0	0	0	0	0	2	1	1	29	729	0	175	2								-4.281380	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.500000	0.350000	1.000000	0.500000	0.531016	0.500000	0	4.200000e-01	6.100000e-01
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46771875G>A	ENST00000529230.1	-	42	5699	c.5653C>T	c.(5653-5655)Cgg>Tgg	p.R1885W	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5			43					TCAATCACCCGAAGGCCTCTT	0.413000													Ovarian(4;85 273 2202 4844 13323)											0							SO:0001583	missense			ENST00000529230.1	1	1	hg19	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.899108|3.899108	0.72754|0.72754	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.49720|.	0.8;0.8;0.77;0.77|.	5.58|5.58	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71702|0.71702	0.3371|0.3371	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.989;0.996;0.99|.	T|T	0.71777|0.71777	-0.4490|-0.4490	10|5	0.87932|.	D|.	0|.	-20.2111|-20.2111	13.4371|13.4371	0.61090|0.61090	0.0:0.0:0.7143:0.2857|0.0:0.0:0.7143:0.2857	.|.	1892;1825;1885|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	W|L	1885;1892;1825;1825|123	ENSP00000432768:R1885W;ENSP00000395302:R1892W;ENSP00000310227:R1825W;ENSP00000346566:R1825W|.	ENSP00000310227:R1825W|.	R|S	-|-	1|2	2|0	CKAP5|CKAP5	46728451|46728451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.290000|4.290000	0.59019|0.59019	1.336000|1.336000	0.45506|0.45506	0.549000|0.549000	0.68633|0.68633	CGG|TCG		TCGA-IB-7651-01A-11D-2154-08	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	1	0	1	80	368	0	105	1	1	34	124	0	105	2		0	0	0	0	0	2	1	1	79	353	0	105	2								-3.206021	1	1	121412	1	34	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CKAP5	9793	broad.mit.edu	37	11	46784532	46784532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46784532G>A	ENST00000529230.1	-	30	3931	c.3885C>T	c.(3883-3885)gtC>gtT	p.V1295V	CKAP5_ENST00000312055.5_Silent_p.V1295V|CKAP5_ENST00000415402.1_Silent_p.V1295V|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Silent_p.V1295V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5			43					TTACCTTGACGACAAGATAGG	0.383000													Ovarian(4;85 273 2202 4844 13323)											0							SO:0001819	synonymous_variant			ENST00000529230.1	1	1	hg19	CCDS31477.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	0	0	0	12	382	0	75	1	8.701282e-01	5	113	0	75	2		0	0	0	0	0	2	1	9.990777e-01	12	377	0	75	2								-3.318794	1	1	121412	2	32	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.370000	0.200000	1.000000	0.350000	0.406604	0.370000	0	2.700000e-01	5.000000e-01
CKAP5	9793	broad.mit.edu	37	11	46800054	46800054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46800054G>A	ENST00000529230.1	-	21	2575	c.2529C>T	c.(2527-2529)gaC>gaT	p.D843D	CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000415402.1_Silent_p.D843D|CKAP5_ENST00000354558.3_Silent_p.D843D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5			43					CATTGCTCCCGTCATCTGGTT	0.438000													Ovarian(4;85 273 2202 4844 13323)											0							SO:0001819	synonymous_variant			ENST00000529230.1	1	1	hg19	CCDS31477.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	1	0	1	118	561	0	113	1	1	35	107	0	113	2		0	0	0	0	0	2	1	1	117	556	0	113	2								-20.000000	1	1	121412	1	32	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP4	4038	broad.mit.edu	37	11	46911059	46911059	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4			70					TGCAGCCTCCGTTGTTGTCCC	0.587000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000378623.1	1	1	hg19	CCDS31478.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	1	0	1	113	453	0	94	0	3.463613e-01	0	6	0	94	2		0	0	0	0	0	2	1	1	111	447	0	94	2								-20.000000	1	1	121412	1	28	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP4	4038	broad.mit.edu	37	11	46914620	46914620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46914620C>A	ENST00000378623.1	-	13	1843	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4			70					CACCTCAATCCTCGAGGTGCC	0.577000																								0							SO:0001583	missense			ENST00000378623.1	1	1	hg19	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047028	0.93740	.	.	ENSG00000134569	ENST00000378623	D	0.95980	-3.87	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98370	1.0553	10	0.72032	D	0.01	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	534	O75096	LRP4_HUMAN	M	534	ENSP00000367888:R534M	ENSP00000367888:R534M	R	-	2	0	LRP4	46871196	1.000000	0.71417	0.974000	0.42286	0.902000	0.53008	7.487000	0.81328	2.707000	0.92482	0.561000	0.74099	AGG		TCGA-IB-7651-01A-11D-2154-08	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	1	0	1	35	145	0	43	0	3.999279e-02	0	2	0	43	2		0	0	0	0	0	2	1	1	33	144	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP4	4038	broad.mit.edu	37	11	46917842	46917842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46917842G>A	ENST00000378623.1	-	9	1209	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4			70					CCAATGCAGCGCCCATTCCAA	0.577000																								0							SO:0001583	missense			ENST00000378623.1	0	1	hg19	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292347	0.95546	.	.	ENSG00000134569	ENST00000378623	T	0.42513	0.97	5.96	5.96	0.96718	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.60642	-0.7223	10	0.59425	D	0.04	.	20.4123	0.99019	0.0:0.0:1.0:0.0	.	323	O75096	LRP4_HUMAN	C	323	ENSP00000367888:R323C	ENSP00000367888:R323C	R	-	1	0	LRP4	46874418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.824000	0.97209	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	0	0	0	8	488	0	124	0	9.287366e-03	0	8	0	124	2		0	0	0	0	0	2	1	9.886618e-01	8	479	0	122	2								-2.895815	1	1	121412	1	35	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.200000	0.090000	1.000000	0.190000	0.241416	0.200000	0	1.300000e-01	2.900000e-01
LRP4	4038	broad.mit.edu	37	11	46920210	46920210	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46920210C>A	ENST00000378623.1	-	7	937	c.695G>T	c.(694-696)cGc>cTc	p.R232L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4			70					CTCCCCAGAGCGGCAGGGCTG	0.592000																								0							SO:0001583	missense			ENST00000378623.1	0	1	hg19	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034911	0.75617	.	.	ENSG00000134569	ENST00000378623	D	0.95554	-3.74	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	L	0.31578	0.945	0.58432	D	0.999998	P;B	0.48089	0.905;0.092	P;B	0.50934	0.654;0.154	D	0.92893	0.6333	10	0.26408	T	0.33	.	19.11	0.93313	0.0:1.0:0.0:0.0	.	277;232	C9JRN7;O75096	.;LRP4_HUMAN	L	232	ENSP00000367888:R232L	ENSP00000367888:R232L	R	-	2	0	LRP4	46876786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.999000	0.70665	2.530000	0.85305	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	0	0	0	16	1022	0	156	0	0	0	1	0	156	2		0	0	0	0	0	2	1	9.999050e-01	16	981	0	150	2								-2.620650	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.180000	0.100000	1.000000	0.180000	0.222912	0.180000	0	1.400000e-01	2.500000e-01
OR51E2	81285	broad.mit.edu	37	11	4703289	4703289	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4703289A>G	ENST00000396950.3	-	2	892	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2			23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			TATTATCAGAAAATAGGACAA	0.488000																								0							SO:0001583	missense			ENST00000396950.3	1	1	hg19	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960941	0.53400	.	.	ENSG00000167332	ENST00000396950	T	0.00048	8.82	4.97	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.00073	0.0002	N	0.02169	-0.655	0.09310	N	1	P	0.43662	0.814	B	0.41988	0.372	T	0.49835	-0.8897	10	0.54805	T	0.06	.	9.4954	0.38984	0.9156:0.0:0.0844:0.0	.	218	Q9H255	O51E2_HUMAN	S	218	ENSP00000380153:F218S	ENSP00000380153:F218S	F	-	2	0	OR51E2	4659865	0.000000	0.05858	0.905000	0.35620	0.927000	0.56198	1.157000	0.31724	0.919000	0.36945	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	1	0	1	68	256	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	1	66	249	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR1H3	10062	broad.mit.edu	37	11	47281365	47281365	+	Missense_Mutation	SNP	C	C	T	rs139438525		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47281365C>T	ENST00000467728.1	+	2	1305	c.67C>T	c.(67-69)Cca>Tca	p.P23S	NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000405576.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3			20					GCTGTGGAAGCCAGGCGCACA	0.652000											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000467728.1	1	1	hg19	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321402	0.23994	.	.	ENSG00000025434	ENST00000436778;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.66	0.0326	0.14176	.	0.500830	0.18336	N	0.144325	T	0.16685	0.0401	N	0.08118	0	0.27865	N	0.940246	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.08330	-1.0727	10	0.34782	T	0.22	.	2.013	0.03492	0.1397:0.3331:0.344:0.1831	.	29;23;23	B4DXU5;Q13133;Q13133-2	.;NR1H3_HUMAN;.	S	23	ENSP00000403798:P23S;ENSP00000385801:P23S;ENSP00000391005:P23S;ENSP00000413095:P23S;ENSP00000415591:P23S;ENSP00000387946:P23S;ENSP00000396132:P23S;ENSP00000403696:P23S;ENSP00000420656:P23S;ENSP00000384745:P23S	ENSP00000384745:P23S	P	+	1	0	NR1H3	47237941	0.049000	0.20398	0.280000	0.24747	0.467000	0.32768	-0.834000	0.04391	0.027000	0.15297	0.462000	0.41574	CCA		TCGA-IB-7651-01A-11D-2154-08	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3	1	0	1	43	244	0	32	1	9.998400e-01	2	75	0	32	2		0	0	0	0	0	2	1	1	42	242	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
NR1H3	10062	broad.mit.edu	37	11	47282040	47282040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47282040G>A	ENST00000467728.1	+	3	1551	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3			20					TGGGGACAAGGCCTCGGGCTT	0.582000																								0							SO:0001583	missense			ENST00000467728.1	1	1	hg19	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223251	0.95139	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.35	5.35	0.76521	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	D	0.99782	1.1028	10	0.87932	D	0	.	19.4242	0.94734	0.0:0.0:1.0:0.0	.	111;60;105;60;105	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	T	60;60;60;105;105;105;60;105;105;105;105;105;14	ENSP00000378793:A60T;ENSP00000385073:A60T;ENSP00000433271:A60T;ENSP00000403798:A105T;ENSP00000385801:A105T;ENSP00000391005:A105T;ENSP00000412636:A60T;ENSP00000415591:A105T;ENSP00000387946:A105T;ENSP00000403696:A105T;ENSP00000420656:A105T;ENSP00000384745:A105T;ENSP00000432073:A14T	ENSP00000378793:A60T	A	+	1	0	NR1H3	47238616	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.416000	0.97383	2.653000	0.90120	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3	1	0	1	77	335	0	82	1	9.999305e-01	12	51	0	82	2		0	0	0	0	0	2	1	1	76	333	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MADD	8567	broad.mit.edu	37	11	47296266	47296266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296266G>A	ENST00000311027.5	+	3	380	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000342922.4_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q|MADD_ENST00000406482.1_Missense_Mutation_p.R72Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain			84					ATGAGCCTTCGGGATGATACC	0.562000																								0							SO:0001583	missense			ENST00000311027.5	1	1	hg19	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	37	6.289652	0.97444	.	.	ENSG00000110514	ENST00000453571;ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.17	6.17	0.99709	uDENN (3);	0.054564	0.85682	D	0.000000	T	0.68201	0.2975	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0;0.998;1.0;0.998;0.998	D;D;D;D;D;D;P;D;D;D	0.91635	0.999;0.967;0.997;0.955;0.97;0.97;0.89;0.996;0.951;0.944	T	0.67201	-0.5730	10	0.66056	D	0.02	-19.198	20.8794	0.99867	0.0:0.0:1.0:0.0	.	72;72;72;72;72;72;72;72;72;72	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	72	ENSP00000343902:R72Q;ENSP00000385585:R72Q;ENSP00000384435:R72Q;ENSP00000304505:R72Q;ENSP00000310933:R72Q;ENSP00000384204:R72Q;ENSP00000378753:R72Q;ENSP00000413116:R72Q;ENSP00000378745:R72Q;ENSP00000384287:R72Q;ENSP00000402364:R72Q	ENSP00000310933:R72Q	R	+	2	0	MADD	47252842	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1	1	0	1	235	945	0	182	1	9.996442e-01	6	42	0	182	2		0	0	0	0	0	2	1	1	233	934	1	178	22								-2.553805	1	0	121412	1	30	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MADD	8567	broad.mit.edu	37	11	47296342	47296342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296342C>A	ENST00000311027.5	+	3	456	c.291C>A	c.(289-291)ttC>ttA	p.F97L	RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000395344.3_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000342922.4_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L|MADD_ENST00000406482.1_Missense_Mutation_p.F97L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain			84					GTGTTAACTTCTACCGCTCCT	0.562000																								0							SO:0001583	missense			ENST00000311027.5	1	1	hg19	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219854	0.95139	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	6.17	0.99709	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.88450	2.955	0.80722	D	1	D;P;P;D;D;D;D;D;D;D	0.69078	0.966;0.898;0.925;0.987;0.987;0.987;0.993;0.996;0.993;0.997	P;P;P;P;P;P;D;D;D;D	0.81914	0.779;0.823;0.804;0.891;0.891;0.891;0.98;0.99;0.962;0.995	T	0.77115	-0.2707	9	.	.	.	-20.1197	20.8794	0.99867	0.0:1.0:0.0:0.0	.	97;97;97;97;97;97;97;97;97;97	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	97	ENSP00000343902:F97L;ENSP00000385585:F97L;ENSP00000384435:F97L;ENSP00000304505:F97L;ENSP00000310933:F97L;ENSP00000384204:F97L;ENSP00000378753:F97L;ENSP00000413116:F97L;ENSP00000378745:F97L;ENSP00000384287:F97L;ENSP00000402364:F97L	.	F	+	3	2	MADD	47252918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.666000	0.54540	2.941000	0.99782	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1	1	0	1	116	417	0	90	1	9.999688e-01	11	45	0	90	2		0	0	0	0	0	2	1	1	115	415	0	88	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYBPC3	4607	broad.mit.edu	37	11	47355139	47355139	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47355139C>A	ENST00000545968.1	-	29	3213	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1053D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac			42					TGGCCTTGTCCTCCATGTTCT	0.637000																								0							SO:0001583	missense			ENST00000545968.1	1	1	hg19	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642978	0.67244	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.69435	-0.4;-0.4;-0.4	5.22	3.21	0.36854	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69851	0.3157	M	0.80982	2.52	0.42771	D	0.993839	P	0.37015	0.578	P	0.45712	0.491	T	0.65187	-0.6229	9	0.19590	T	0.45	.	8.5207	0.33273	0.2191:0.6975:0.0:0.0834	.	1052	Q14896	MYPC3_HUMAN	D	1053;1053;1052	ENSP00000442795:E1053D;ENSP00000382193:E1053D;ENSP00000256993:E1052D	ENSP00000256993:E1052D	E	-	3	2	MYBPC3	47311715	0.983000	0.35010	1.000000	0.80357	0.974000	0.67602	0.206000	0.17375	1.198000	0.43158	0.484000	0.47621	GAG		TCGA-IB-7651-01A-11D-2154-08	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3	1	0	1	51	222	0	63	0	3.604876e-02	0	2	0	63	2		0	0	0	0	0	2	1	1	49	219	0	63	2								-3.129770	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYBPC3	4607	broad.mit.edu	37	11	47360107	47360107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47360107C>T	ENST00000545968.1	-	23	2326	c.2272G>A	c.(2272-2274)Ggc>Agc	p.G758S	MYBPC3_ENST00000399249.2_Missense_Mutation_p.G758S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac			42					TGGTCCTCGCCCACAGGGTTC	0.637000																								0							SO:0001583	missense			ENST00000545968.1	1	1	hg19	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591283	0.96590	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	D;D;D	0.82711	-1.64;-1.64;-1.64	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92328	0.7566	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.93224	0.6611	9	0.87932	D	0	.	19.209	0.93747	0.0:1.0:0.0:0.0	.	757	Q14896	MYPC3_HUMAN	S	758;758;757	ENSP00000442795:G758S;ENSP00000382193:G758S;ENSP00000256993:G757S	ENSP00000256993:G757S	G	-	1	0	MYBPC3	47316683	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.469000	0.80959	2.536000	0.85505	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3	1	0	1	41	212	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	1	40	207	0	59	2								-3.350121	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MYBPC3	4607	broad.mit.edu	37	11	47364609	47364609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47364609C>T	ENST00000545968.1	-	15	1368	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	MYBPC3_ENST00000399249.2_Silent_p.V438V|MYBPC3_ENST00000256993.4_Silent_p.V437V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac			42					TCTCGCCACCCACCACGCACT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000545968.1	1	1	hg19	CCDS53621.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3	1	0	1	17	96	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999749e-01	17	94	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998865	0.990000	1	9.900000e-01	1
MYBPC3	4607	broad.mit.edu	37	11	47371447	47371447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47371447C>T	ENST00000545968.1	-	5	586	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MYBPC3_ENST00000399249.2_Missense_Mutation_p.V178M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac			42					GCGCCGGCCACGCGGGCTGAG	0.672000																								0							SO:0001583	missense			ENST00000545968.1	1	1	hg19	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427436	0.83667	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.75154	-0.91;-0.91;-0.91	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88134	0.6355	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90470	0.4452	9	0.87932	D	0	.	18.2122	0.89874	0.0:1.0:0.0:0.0	.	178	Q14896	MYPC3_HUMAN	M	178	ENSP00000442795:V178M;ENSP00000382193:V178M;ENSP00000256993:V178M	ENSP00000256993:V178M	V	-	1	0	MYBPC3	47328023	1.000000	0.71417	0.827000	0.32855	0.625000	0.37756	4.934000	0.63491	2.385000	0.81259	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3	1	0	1	11	59	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.985734e-01	11	57	0	17	2								-19.999990	1	1	120828	2	25	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.960000	1.000000	1.000000	0.996238	0.990000	1	9.900000e-01	1
SPI1	6688	broad.mit.edu	37	11	47381477	47381477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47381477C>T	ENST00000378538.3	-	3	479	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene			8					CTCCATGTGGCGGTAGAGCTG	0.657000																								0							SO:0001583	missense			ENST00000378538.3	1	1	hg19	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082220	0.76528	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T	0.22336	1.96;1.97	3.59	3.59	0.41128	.	0.064020	0.64402	D	0.000012	T	0.42562	0.1208	M	0.75777	2.31	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.71184	0.966;0.84;0.972	T	0.37663	-0.9696	10	0.15499	T	0.54	-27.9195	15.7696	0.78157	0.0:1.0:0.0:0.0	.	86;86;87	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	H	86;87;86	ENSP00000367799:R86H;ENSP00000227163:R87H	ENSP00000227163:R87H	R	-	2	0	SPI1	47338053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.526000	0.45607	1.985000	0.57927	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	1	0	1	25	213	0	48	0	1	1	296	0	48	2	1	1	39	563	1	552	6	1	9.999999e-01	25	212	0	47	2								-3.221908	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.830000	1.000000	1.000000	0.987806	0.990000	1	9.900000e-01	1
SLC39A13	91252	broad.mit.edu	37	11	47434981	47434981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47434981G>A	ENST00000362021.4	+	5	610	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000524928.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000533076.1_Missense_Mutation_p.A190T	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13			4					TGCTGCTGCCGCCGCGCTCAA	0.672000																								0							SO:0001583	missense			ENST00000362021.4	1	1	hg19	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	G	4.021	0.001430	0.07819	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.93	1.96	0.26148	.	2.703060	0.00757	N	0.001107	T	0.29524	0.0736	N	0.25332	0.735	0.09310	N	1	B;B;P	0.34724	0.012;0.012;0.465	B;B;B	0.25405	0.02;0.002;0.06	T	0.12553	-1.0543	10	0.14252	T	0.57	-17.1502	3.3102	0.07014	0.0975:0.1991:0.5393:0.164	.	190;190;190	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	T	190	ENSP00000434290:A190T;ENSP00000354689:A190T;ENSP00000346956:A190T;ENSP00000432499:A190T;ENSP00000437186:A190T	ENSP00000346956:A190T	A	+	1	0	SLC39A13	47391557	0.042000	0.20092	0.004000	0.12327	0.034000	0.12701	1.262000	0.32992	0.121000	0.18284	0.455000	0.32223	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	1	0	1	62	280	0	75	1	1	43	123	0	75	2		0	0	0	0	0	2	1	1	60	275	0	73	2								-3.419174	1	1	121412	1	27	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1QTNF4	114900	broad.mit.edu	37	11	47611561	47611561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47611561C>T	ENST00000302514.3	-	2	1318	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4			6					CTCTGCATCTCGCGGCGCCGC	0.677000																								0							SO:0001583	missense			ENST00000302514.3	1	1	hg19	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966121	0.92855	.	.	ENSG00000172247	ENST00000302514	D	0.85955	-2.05	4.27	3.34	0.38264	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.069186	0.56097	U	0.000022	T	0.78805	0.4341	L	0.43598	1.365	0.49213	D	0.999766	P	0.47034	0.889	B	0.38712	0.28	T	0.77308	-0.2636	10	0.38643	T	0.18	.	14.2981	0.66329	0.0:0.85:0.15:0.0	.	268	Q9BXJ3	C1QT4_HUMAN	K	268	ENSP00000302274:E268K	ENSP00000302274:E268K	E	-	1	0	C1QTNF4	47568137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.836000	0.69375	0.878000	0.35920	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	1	0	0	19	209	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999919e-01	19	207	0	29	2								-19.999990	1	1	121064	1	24	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.620000	1.000000	1.000000	0.921185	0.990000	1	7.900000e-01	1
MTCH2	23788	broad.mit.edu	37	11	47644304	47644304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47644304G>T	ENST00000302503.3	-	12	931	c.774C>A	c.(772-774)taC>taA	p.Y258*	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2			11					ATATTGGGGAGTAAGGAGGGC	0.333000																								0							SO:0001587	stop_gained			ENST00000302503.3	0	1	hg19	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637882	0.96693	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428	.	.	.	5.82	1.34	0.21922	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8946	6.5142	0.22239	0.4954:0.0:0.5046:0.0	.	.	.	.	X	258;110;249	.	ENSP00000303222:Y258X	Y	-	3	2	MTCH2	47600880	0.988000	0.35896	1.000000	0.80357	0.970000	0.65996	0.071000	0.14594	0.376000	0.24707	0.561000	0.74099	TAC		TCGA-IB-7651-01A-11D-2154-08	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	1	0	1	35	168	0	53	1	1	59	337	0	53	2		0	0	0	0	0	2	1	1	35	165	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MTCH2	23788	broad.mit.edu	37	11	47657112	47657112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47657112C>T	ENST00000302503.3	-	4	448	c.291G>A	c.(289-291)gaG>gaA	p.E97E	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2			11					CCTTGTCACTCTCCTGGTAAT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000302503.3	1	1	hg19	CCDS7943.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	1	0	1	41	231	0	58	1	1	76	150	0	58	2		0	0	0	0	0	2	1	1	40	223	0	58	2								-2.888688	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
AGBL2	79841	broad.mit.edu	37	11	47732006	47732006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47732006G>T	ENST00000525123.1	-	4	440	c.155C>A	c.(154-156)cCt>cAt	p.P52H	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H|AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	p.P52H(1)		34					CAGGCATTGAGGGTTATTCTT	0.433000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000525123.1	1	1	hg19	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179860	0.38511	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.82	4.82	0.62117	.	0.733796	0.12627	N	0.452554	T	0.57636	0.2067	M	0.67953	2.075	0.22412	N	0.999123	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.56514	0.8;0.707;0.707	T	0.51949	-0.8640	10	0.87932	D	0	-3.1881	13.4672	0.61260	0.0:0.0:1.0:0.0	.	52;52;52	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	H	52;52;52;52;52;52;32;52	ENSP00000435582:P52H;ENSP00000350228:P52H;ENSP00000298861:P52H;ENSP00000436630:P52H;ENSP00000436063:P52H;ENSP00000432264:P32H;ENSP00000436518:P52H	ENSP00000298861:P52H	P	-	2	0	AGBL2	47688582	1.000000	0.71417	0.148000	0.22405	0.069000	0.16628	4.127000	0.57944	2.239000	0.73571	0.585000	0.79938	CCT		TCGA-IB-7651-01A-11D-2154-08	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	1	0	1	83	394	0	90	1	2.837203e-01	3	3	0	90	2		0	0	0	0	0	2	1	1	82	387	0	90	2								-2.753657	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGBL2	79841	broad.mit.edu	37	11	47735874	47735874	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47735874A>C	ENST00000525123.1	-	3	344	c.59T>G	c.(58-60)tTt>tGt	p.F20C	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2			34					ACGGTACATAAAGTCTTCATA	0.363000																								0							SO:0001583	missense			ENST00000525123.1	1	1	hg19	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276428	0.80580	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000529154;ENST00000530969	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.76	4.76	0.60689	.	0.244339	0.35151	N	0.003404	T	0.54679	0.1873	M	0.72894	2.215	0.37178	D	0.903382	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.972;0.996	T	0.65792	-0.6082	10	0.87932	D	0	-22.7366	14.5772	0.68258	1.0:0.0:0.0:0.0	.	20;20;20	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	C	20	ENSP00000435582:F20C;ENSP00000350228:F20C;ENSP00000298861:F20C;ENSP00000436630:F20C;ENSP00000436063:F20C;ENSP00000436518:F20C;ENSP00000431835:F20C	ENSP00000298861:F20C	F	-	2	0	AGBL2	47692450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.886000	0.75611	1.914000	0.55421	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	1	0	1	79	280	0	64	1	3.077960e-01	2	3	0	64	2		0	0	0	0	0	2	1	1	78	275	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FNBP4	23360	broad.mit.edu	37	11	47772826	47772826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47772826G>A	ENST00000263773.5	-	5	666	c.654C>T	c.(652-654)ggC>ggT	p.G218G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4			44					CCTGCCAATCGCCCATCTCAA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000263773.5	1	1	hg19	CCDS41644.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3	1	0	1	99	473	0	121	1	9.999593e-01	21	49	0	121	2		0	0	0	0	0	2	1	1	95	463	0	120	2								-3.343583	1	1	120844	9	44	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP160	23279	broad.mit.edu	37	11	47806599	47806599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47806599A>G	ENST00000378460.2	-	33	3911	c.3865T>C	c.(3865-3867)Tgg>Cgg	p.W1289R	NUP160_ENST00000530326.1_Missense_Mutation_p.W1175R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa			53					AATAGTCGCCATGCTTCATCT	0.378000																								0							SO:0001583	missense			ENST00000378460.2	0	1	hg19	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379224	0.82682	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.78481	0.06;-1.18	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90491	0.4467	10	0.87932	D	0	.	16.2364	0.82377	1.0:0.0:0.0:0.0	.	1289	Q12769	NU160_HUMAN	R	1289;1175	ENSP00000367721:W1289R;ENSP00000433590:W1175R	ENSP00000367721:W1289R	W	-	1	0	NUP160	47763175	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	8.414000	0.90238	2.238000	0.73509	0.477000	0.44152	TGG		TCGA-IB-7651-01A-11D-2154-08	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	0	0	0	7	338	0	85	1	7.295471e-01	2	121	0	85	2		0	0	0	0	0	2	1	9.782998e-01	7	326	0	84	2								-7.779120	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.250000	0.110000	1.000000	0.240000	0.296409	0.250000	0	1.700000e-01	3.800000e-01
NUP160	23279	broad.mit.edu	37	11	47830003	47830003	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47830003A>G	ENST00000378460.2	-	18	2366	c.2320T>C	c.(2320-2322)Tac>Cac	p.Y774H	NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H|NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa			53					TTAATGAGGTAATAAGATAAG	0.403000																								0							SO:0001583	missense			ENST00000378460.2	1	1	hg19	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543547	0.45280	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.51071	1.31;0.74;0.72	5.93	1.11	0.20524	.	0.683244	0.15228	N	0.273568	T	0.29028	0.0721	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06752	-1.0809	10	0.17832	T	0.49	.	9.0481	0.36358	0.7124:0.0:0.2876:0.0	.	774	Q12769	NU160_HUMAN	H	774;660;660	ENSP00000367721:Y774H;ENSP00000433590:Y660H;ENSP00000432367:Y660H	ENSP00000367721:Y774H	Y	-	1	0	NUP160	47786579	0.971000	0.33674	0.663000	0.29738	0.978000	0.69477	2.055000	0.41345	-0.051000	0.13334	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	1	0	1	55	261	0	60	1	9.999975e-01	32	61	0	60	2		0	0	0	0	0	2	1	1	55	257	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP160	23279	broad.mit.edu	37	11	47858498	47858498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47858498G>A	ENST00000378460.2	-	6	929	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y|NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa			53					AAGGCATCATGCTCCACACAA	0.413000																								0							SO:0001583	missense			ENST00000378460.2	1	1	hg19	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626640	0.66901	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.42900	0.96;0.96;0.96	5.5	3.61	0.41365	.	0.240232	0.43260	D	0.000584	T	0.44993	0.1320	L	0.60455	1.87	0.80722	D	1	P	0.45240	0.854	P	0.47626	0.552	T	0.28106	-1.0054	10	0.13108	T	0.6	.	14.7893	0.69827	0.0:0.0:0.7366:0.2633	.	295	Q12769	NU160_HUMAN	Y	295;45;181;181	ENSP00000367721:H295Y;ENSP00000433590:H181Y;ENSP00000432367:H181Y	ENSP00000367721:H295Y	H	-	1	0	NUP160	47815074	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	4.345000	0.59360	0.667000	0.31107	0.655000	0.94253	CAT		TCGA-IB-7651-01A-11D-2154-08	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	1	0	1	59	234	0	71	1	9.999873e-01	20	49	0	71	2		0	0	0	0	0	2	1	1	57	232	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51F1	256892	broad.mit.edu	37	11	4790217	4790217	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4790217T>C	ENST00000380383.1	-	1	951	c.952A>G	c.(952-954)Aca>Gca	p.T318A	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1			22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)			GTTCATTTTGTAAGCAGCAGA	0.423000																								0							SO:0001583	missense			ENST00000380383.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	0.003	-2.436733	0.00182	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00002	9.85;9.85	5.2	-7.56	0.01322	.	1.837620	0.02621	N	0.103194	T	0.00039	0.0001	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34825	-0.9813	10	0.07813	T	0.8	.	1.1005	0.01683	0.3628:0.2485:0.0937:0.295	.	318	A6NGY5	O51F1_HUMAN	A	311;318	ENSP00000345163:T311A;ENSP00000369744:T318A	ENSP00000345163:T311A	T	-	1	0	OR51F1	4746793	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.691000	0.05133	-1.941000	0.01042	-1.255000	0.01485	ACA		TCGA-IB-7651-01A-11D-2154-08	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	63	258	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	62	251	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRJ	5795	broad.mit.edu	37	11	48149438	48149438	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48149438G>A	ENST00000418331.2	+	7	1552	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	PTPRJ_ENST00000440289.2_Silent_p.K400K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J			52					ATACCTACAAGATACATGTGG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000418331.2	1	1	hg19	CCDS7945.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1	0	0	0	23	569	0	133	1	8.435362e-01	7	78	0	133	2		0	0	0	0	0	2	1	9.999991e-01	23	552	0	126	2								-3.930492	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.460000	0.300000	1.000000	0.450000	0.493520	0.460000	0	3.700000e-01	5.800000e-01
PTPRJ	5795	broad.mit.edu	37	11	48161167	48161167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48161167A>G	ENST00000418331.2	+	11	2634	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J			52					GCCTGGAACAATGCGACCCAC	0.537000																								0							SO:0001583	missense			ENST00000418331.2	1	1	hg19	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	9.835	1.189538	0.21954	.	.	ENSG00000149177	ENST00000418331	T	0.52057	0.68	5.29	1.58	0.23477	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39627	0.1085	M	0.65975	2.015	0.09310	N	0.999999	B	0.25850	0.136	B	0.19391	0.025	T	0.30238	-0.9985	9	0.14252	T	0.57	.	7.4039	0.26979	0.7336:0.0:0.2664:0.0	.	761	Q12913	PTPRJ_HUMAN	S	761	ENSP00000400010:N761S	ENSP00000400010:N761S	N	+	2	0	PTPRJ	48117743	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.839000	0.27586	0.321000	0.23259	-0.256000	0.11100	AAT		TCGA-IB-7651-01A-11D-2154-08	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1	1	0	1	45	219	0	60	1	9.999997e-01	33	83	0	60	2		0	0	0	0	0	2	1	1	45	218	0	60	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52R1	119695	broad.mit.edu	37	11	4825055	4825055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4825055C>T	ENST00000356069.2	-	1	555	c.556G>A	c.(556-558)Gct>Act	p.A186T	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A265T|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1			29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)			TTCAGCACAGCCATGTGCTCA	0.522000																								0							SO:0001583	missense			ENST00000356069.2	1	1	hg19	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959914	0.74016	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00130	8.69;8.69	5.46	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	T	0.00666	0.0022	M	0.93462	3.42	0.31836	N	0.624071	D	0.76494	0.999	D	0.76071	0.987	T	0.06197	-1.0840	10	0.87932	D	0	.	14.3226	0.66496	0.1497:0.8503:0.0:0.0	.	186	Q8NGF1	O52R1_HUMAN	T	186;265	ENSP00000348368:A186T;ENSP00000369742:A265T	ENSP00000348368:A186T	A	-	1	0	OR52R1	4781631	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.389000	0.20751	1.505000	0.48720	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	1	0	1	96	384	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	94	378	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4X2	119764	broad.mit.edu	37	11	48266694	48266694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48266694G>T	ENST00000302329.3	+	1	87	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2			20					CTCCCAACCAGGAGGTGCAGA	0.448000																								0							SO:0001583	missense			ENST00000302329.3	1	1	hg19	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	5.573	0.290542	0.10567	.	.	ENSG00000172208	ENST00000302329	T	0.02974	4.09	5.37	-0.423	0.12325	.	1.300900	0.05306	N	0.523901	T	0.03053	0.0090	N	0.16602	0.42	0.09310	N	1	P	0.38148	0.62	B	0.40659	0.336	T	0.49476	-0.8936	10	0.87932	D	0	.	8.6846	0.34229	0.4934:0.0:0.5066:0.0	.	13	Q8NGF9	OR4X2_HUMAN	H	13	ENSP00000307751:Q13H	ENSP00000307751:Q13H	Q	+	3	2	OR4X2	48223270	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-2.585000	0.00903	0.000000	0.14550	-0.143000	0.13931	CAG		TCGA-IB-7651-01A-11D-2154-08	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	1	0	1	128	531	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	124	516	0	107	2								-3.121496	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4X2	119764	broad.mit.edu	37	11	48267073	48267073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267073G>T	ENST00000302329.3	+	1	466	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2			20					TGTAGGAATAGCATGGGTGGG	0.502000																								0							SO:0001583	missense			ENST00000302329.3	1	1	hg19	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957308	0.34565	.	.	ENSG00000172208	ENST00000302329	T	0.36520	1.25	5.37	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.23249	0.0562	N	0.02960	-0.455	0.28159	N	0.929083	P	0.51791	0.948	P	0.55222	0.771	T	0.05402	-1.0887	10	0.23302	T	0.38	.	6.8171	0.23837	0.0882:0.0:0.7346:0.1772	.	140	Q8NGF9	OR4X2_HUMAN	S	140	ENSP00000307751:A140S	ENSP00000307751:A140S	A	+	1	0	OR4X2	48223649	0.165000	0.22948	0.039000	0.18376	0.557000	0.35523	1.926000	0.40084	1.212000	0.43366	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	1	0	1	139	563	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	133	549	0	125	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4X2	119764	broad.mit.edu	37	11	48267277	48267277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267277G>T	ENST00000302329.3	+	1	670	c.622G>T	c.(622-624)Gca>Tca	p.A208S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2			20					GGTCCTCTTAGCATCCTATAT	0.517000																								0							SO:0001583	missense			ENST00000302329.3	1	1	hg19	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040199	0.08148	.	.	ENSG00000172208	ENST00000302329	T	0.37235	1.21	5.37	0.603	0.17541	GPCR, rhodopsin-like superfamily (1);	0.378408	0.22553	N	0.058569	T	0.22244	0.0536	L	0.35487	1.065	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.13045	-1.0524	10	0.35671	T	0.21	.	4.8436	0.13503	0.1753:0.0:0.4144:0.4104	.	208	Q8NGF9	OR4X2_HUMAN	S	208	ENSP00000307751:A208S	ENSP00000307751:A208S	A	+	1	0	OR4X2	48223853	0.000000	0.05858	0.002000	0.10522	0.320000	0.28249	-1.070000	0.03440	0.201000	0.20466	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	1	0	1	97	584	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1	95	571	0	122	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4X1	390113	broad.mit.edu	37	11	48286112	48286112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48286112G>A	ENST00000320048.1	+	1	700	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)			28					GCAGCACAAGGCCCTCTCCAC	0.542000																								0							SO:0001583	missense			ENST00000320048.1	1	1	hg19	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392031	0.42410	.	.	ENSG00000176567	ENST00000320048	T	0.00357	7.89	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.73753	2.245	0.24716	N	0.993173	D	0.89917	1.0	D	0.97110	1.0	T	0.47935	-0.9078	9	0.72032	D	0.01	.	10.774	0.46340	0.0941:0.0:0.9059:0.0	.	234	Q8NH49	OR4X1_HUMAN	T	234	ENSP00000321506:A234T	ENSP00000321506:A234T	A	+	1	0	OR4X1	48242688	1.000000	0.71417	0.362000	0.25862	0.001000	0.01503	3.712000	0.54875	1.240000	0.43803	-0.244000	0.11960	GCC		TCGA-IB-7651-01A-11D-2154-08	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	1	0	1	88	407	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	86	398	0	89	2								-3.195169	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4C3	256144	broad.mit.edu	37	11	48347024	48347024	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48347024T>G	ENST00000319856.4	+	1	553	c.532T>G	c.(532-534)Ttc>Gtc	p.F178V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3			32					GCTTGGGGGCTTCCTGCATTC	0.527000																								0							SO:0001583	missense			ENST00000319856.4	1	0	hg19	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132463	0.56828	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00164	8.64	5.78	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.116765	0.39210	N	0.001440	T	0.00210	0.0006	M	0.64997	1.995	0.09310	N	0.999999	P	0.34522	0.455	P	0.44811	0.461	T	0.27468	-1.0073	10	0.72032	D	0.01	.	2.4149	0.04433	0.1448:0.0808:0.3005:0.4738	.	151	Q8NH37	OR4C3_HUMAN	V	178;41	ENSP00000321419:F178V	ENSP00000321419:F178V	F	+	1	0	OR4C3	48303600	0.047000	0.20315	0.984000	0.44739	0.987000	0.75469	2.365000	0.44196	0.472000	0.27344	0.391000	0.25812	TTC		TCGA-IB-7651-01A-11D-2154-08	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	1	0	0	36	634	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	33	601	0	122	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.640000	0.450000	1.000000	0.630000	0.659295	0.640000	0	5.400000e-01	7.700000e-01
PTDSS2	81490	broad.mit.edu	37	11	488249	488249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:488249C>T	ENST00000308020.5	+	7	848	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2			9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		Phosphatidylserine(DB00144)	GCGTGATGTTCGAGTTCCTGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000308020.5	1	1	hg19	CCDS7696.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2	1	0	1	50	237	0	66	1	9.999999e-01	39	78	0	66	2		0	0	0	0	0	2	1	1	50	234	0	66	2								-3.388038	1	1	121408	1	34	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTDSS2	81490	broad.mit.edu	37	11	489663	489663	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:489663C>T	ENST00000308020.5	+	10	1221	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2			9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		Phosphatidylserine(DB00144)	CCTGGTCCTCCTGCGGCTCGT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000308020.5	1	1	hg19	CCDS7696.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2	1	0	1	25	50	0	15	1	1	24	59	0	15	2		0	0	0	0	0	2	1	9.999999e-01	22	47	0	10	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51T1	401665	broad.mit.edu	37	11	4903513	4903513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903513C>T	ENST00000322049.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Silent_p.I155I|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1			34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			TCGTGGCTATCTGTAACCCAC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000322049.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	1	0	1	89	436	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	87	426	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51T1	401665	broad.mit.edu	37	11	4903783	4903783	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903783C>A	ENST00000322049.1	+	1	654	c.654C>A	c.(652-654)ttC>ttA	p.F218L	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.F245L|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1			34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			TTATTCTTTTCTCCTATGTCC	0.438000																								0							SO:0001583	missense			ENST00000322049.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	2.468	-0.322523	0.05350	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.37584	1.19;1.19	4.99	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.671673	0.13049	N	0.417881	T	0.10508	0.0257	N	0.02111	-0.68	0.33486	D	0.588027	B	0.09022	0.002	B	0.10450	0.005	T	0.38023	-0.9680	10	0.02654	T	1	.	4.0786	0.09916	0.2879:0.4944:0.1396:0.0781	.	218	Q8NGJ9	O51T1_HUMAN	L	245;218	ENSP00000369738:F245L;ENSP00000322679:F218L	ENSP00000322679:F218L	F	+	3	2	OR51T1	4860359	0.003000	0.15002	1.000000	0.80357	0.951000	0.60555	-0.511000	0.06321	0.273000	0.22049	0.484000	0.47621	TTC		TCGA-IB-7651-01A-11D-2154-08	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	1	0	1	56	285	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	56	276	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOLH1	2346	broad.mit.edu	37	11	49175791	49175791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49175791C>A	ENST00000256999.2	-	16	2137	c.1877G>T	c.(1876-1878)aGt>aTt	p.S626I	FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I|FOLH1_ENST00000340334.7_Missense_Mutation_p.S611I|FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I|FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1			60				Capromab(DB00089)	AAATGATACACTGTATGTCTT	0.323000																								0							SO:0001583	missense			ENST00000256999.2	1	1	hg19	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864361	0.17250	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.62	-5.07	0.02938	Transferrin receptor-like, dimerisation domain (2);	0.959845	0.08638	N	0.916012	T	0.23492	0.0568	L	0.57536	1.79	0.09310	N	1	B;B;B;B;P	0.42078	0.074;0.092;0.004;0.059;0.77	B;B;B;B;B	0.37239	0.034;0.037;0.023;0.074;0.244	T	0.17107	-1.0380	10	0.62326	D	0.03	.	6.1645	0.20382	0.1324:0.3207:0.0:0.5469	.	611;611;626;626;41	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	I	626;626;611;318;611	ENSP00000256999:S626I;ENSP00000349129:S626I;ENSP00000344131:S611I;ENSP00000344086:S318I;ENSP00000431463:S611I	ENSP00000256999:S626I	S	-	2	0	FOLH1	49132367	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	-1.647000	0.01997	-1.037000	0.03283	0.404000	0.27445	AGT		TCGA-IB-7651-01A-11D-2154-08	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	1	0	1	67	297	0	94	0	7.915518e-01	0	15	0	94	2		0	0	0	0	0	2	1	1	66	290	1	93	14								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51A7	119687	broad.mit.edu	37	11	4929297	4929297	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4929297G>T	ENST00000359350.4	+	1	698	c.698G>T	c.(697-699)aGg>aTg	p.R233M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7			33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			TTGGCAGAGAGGCTTAAGGCC	0.473000																								0							SO:0001583	missense			ENST00000359350.4	1	1	hg19	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734199	0.30684	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.46451	0.87	5.02	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.66607	0.2806	M	0.93283	3.4	0.09310	N	1	D	0.60575	0.988	P	0.60286	0.872	T	0.63541	-0.6614	10	0.87932	D	0	.	10.1619	0.42858	0.1499:0.0:0.8501:0.0	.	233	Q8NH64	O51A7_HUMAN	M	233;233;222	ENSP00000352305:R233M	ENSP00000352305:R233M	R	+	2	0	OR51A7	4885873	0.007000	0.16637	0.666000	0.29783	0.234000	0.25298	1.580000	0.36547	2.596000	0.87737	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	1	0	1	125	624	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	122	614	0	128	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNH1	6050	broad.mit.edu	37	11	494985	494985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:494985C>A	ENST00000534797.1	-	8	2603	c.1196G>T	c.(1195-1197)aGc>aTc	p.S399I	RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I|RNH1_ENST00000438658.2_Missense_Mutation_p.S399I			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1			10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)			CTCACGCAGGCTGTGGTTGGC	0.687000																								0							SO:0001583	missense			ENST00000534797.1	0	1	hg19	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058631	0.55325	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000529768;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	3.87	3.87	0.44632	.	0.317042	0.26539	N	0.023807	D	0.82838	0.5124	M	0.92367	3.3	0.37013	D	0.895833	D	0.89917	1.0	D	0.97110	1.0	D	0.86268	0.1659	10	0.72032	D	0.01	.	7.5396	0.27731	0.0:0.8859:0.0:0.1141	.	399	P13489	RINI_HUMAN	I	399;399;399;399;193;399;399;399;399	ENSP00000433999:S399I;ENSP00000380738:S399I;ENSP00000380739:S399I;ENSP00000380729:S399I;ENSP00000432170:S193I;ENSP00000435594:S399I;ENSP00000416589:S399I;ENSP00000346402:S399I;ENSP00000348515:S399I	ENSP00000346402:S399I	S	-	2	0	RNH1	484985	0.024000	0.19004	0.943000	0.38184	0.432000	0.31715	0.415000	0.21181	2.465000	0.83290	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	1	0	1	7	78	0	14	1	9.999997e-01	174	454	0	14	2		0	0	0	0	0	2	1	9.813381e-01	7	77	0	14	2								-12.293000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.450000	1.000000	1.000000	0.883103	0.990000	1	6.900000e-01	1
OR4C12	283093	broad.mit.edu	37	11	50003628	50003628	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:50003628C>A	ENST00000335238.4	-	1	443	c.410G>T	c.(409-411)aGc>aTc	p.S137I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12			36					AATGCACAGGCTGTGGCTCAT	0.498000																								0							SO:0001583	missense			ENST00000335238.4	0	1	hg19	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	1.770	-0.484549	0.04352	.	.	ENSG00000221954	ENST00000335238	T	0.38077	1.16	3.31	-0.249	0.13011	GPCR, rhodopsin-like superfamily (1);	0.620671	0.13071	U	0.416101	T	0.25082	0.0609	L	0.32530	0.975	0.09310	N	1	B	0.21309	0.054	B	0.25759	0.063	T	0.27571	-1.0070	10	0.66056	D	0.02	.	6.2106	0.20628	0.0:0.3643:0.0:0.6357	.	137	Q96R67	OR4CC_HUMAN	I	137	ENSP00000334418:S137I	ENSP00000334418:S137I	S	-	2	0	OR4C12	49960204	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-1.739000	0.01840	0.109000	0.17891	-0.555000	0.04198	AGC		TCGA-IB-7651-01A-11D-2154-08	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	0	0	0	28	1163	1	264		0	0	0	1	264	2		0	0	0	0	0	2	1	9.726445e-01	24	1144	1	262	16								-2.823287	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.280000	0.180000	1.000000	0.280000	0.313164	0.280000	0	2.200000e-01	3.500000e-01
MMP26	56547	broad.mit.edu	37	11	5009471	5009471	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5009471C>A	ENST00000380390.1	+	2	246	c.30C>A	c.(28-30)atC>atA	p.I10I	MMP26_ENST00000300762.1_Silent_p.I10I|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26			22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Marimastat(DB00786)	GAGTTACTATCTTCTTGCCCT	0.488000											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001819	synonymous_variant			ENST00000380390.1	1	1	hg19	CCDS7752.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	1	0	1	98	492	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	96	478	0	106	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP26	56547	broad.mit.edu	37	11	5011082	5011082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5011082C>T	ENST00000380390.1	+	3	520	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MMP26_ENST00000300762.1_Missense_Mutation_p.H102Y			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26			22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Marimastat(DB00786)	GTGGAATAAGCACACTCTAAC	0.527000																								0							SO:0001583	missense			ENST00000380390.1	0	1	hg19	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	6.808	0.518199	0.13005	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.20881	2.04;2.04	3.73	-4.56	0.03431	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.474640	0.04758	N	0.425797	T	0.13072	0.0317	L	0.35644	1.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25676	-1.0125	9	.	.	.	0.2539	2.7916	0.05390	0.2437:0.4949:0.1324:0.129	.	102	Q9NRE1	MMP26_HUMAN	Y	102	ENSP00000369753:H102Y;ENSP00000300762:H102Y	.	H	+	1	0	MMP26	4967658	0.001000	0.12720	0.219000	0.23793	0.016000	0.09150	1.163000	0.31798	-0.861000	0.04094	-1.181000	0.01715	CAC		TCGA-IB-7651-01A-11D-2154-08	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	0	0	0	8	159	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.893987e-01	8	157	0	35	2								-11.235130	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.590000	0.280000	1.000000	1.000000	0.622023	0.590000	0	4.100000e-01	8.400000e-01
MMP26	56547	broad.mit.edu	37	11	5013249	5013249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013249G>T	ENST00000380390.1	+	6	867	c.651G>T	c.(649-651)caG>caT	p.Q217H	MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26			22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Marimastat(DB00786)	TGGGCCTGCAGCACTCTGGGA	0.413000																								0							SO:0001583	missense			ENST00000380390.1	1	1	hg19	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	0.351	-0.944724	0.02304	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21543	2.0;2.0	3.79	-3.17	0.05202	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	4.533080	0.00669	N	0.000629	T	0.11965	0.0291	N	0.16708	0.43	0.09310	N	0.999991	B	0.21381	0.055	B	0.30646	0.118	T	0.15464	-1.0436	10	0.12766	T	0.61	5.7276	2.8457	0.05542	0.2533:0.4746:0.1499:0.1222	.	217	Q9NRE1	MMP26_HUMAN	H	217	ENSP00000369753:Q217H;ENSP00000300762:Q217H	ENSP00000300762:Q217H	Q	+	3	2	MMP26	4969825	0.000000	0.05858	0.003000	0.11579	0.472000	0.32918	-3.215000	0.00554	-0.410000	0.07542	-0.305000	0.09177	CAG		TCGA-IB-7651-01A-11D-2154-08	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	1	0	1	39	209	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	39	205	0	46	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
MMP26	56547	broad.mit.edu	37	11	5013323	5013323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013323C>T	ENST00000380390.1	+	6	941	c.725C>T	c.(724-726)gCc>gTc	p.A242V	MMP26_ENST00000300762.1_Missense_Mutation_p.A242V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26			22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Marimastat(DB00786)	CAGCTCAGTGCCGATGATATC	0.473000																								0							SO:0001583	missense			ENST00000380390.1	1	1	hg19	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186778	0.09547	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.21361	2.01;2.01	3.67	-7.35	0.01422	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	3.244940	0.01367	N	0.012424	T	0.09247	0.0228	N	0.13003	0.285	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20605	-1.0270	10	0.18710	T	0.47	2.2155	2.3356	0.04247	0.4996:0.2435:0.0974:0.1596	.	242	Q9NRE1	MMP26_HUMAN	V	242	ENSP00000369753:A242V;ENSP00000300762:A242V	ENSP00000300762:A242V	A	+	2	0	MMP26	4969899	0.000000	0.05858	0.023000	0.16930	0.100000	0.18952	0.191000	0.17076	-2.462000	0.00535	-0.310000	0.09108	GCC		TCGA-IB-7651-01A-11D-2154-08	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	1	0	0	23	279	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	9.999994e-01	23	275	0	55	2								-8.023614	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.910000	0.590000	1.000000	1.000000	0.883265	0.910000	1	7.300000e-01	1
OR52E2	119678	broad.mit.edu	37	11	5079958	5079958	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5079958G>T	ENST00000321522.2	-	1	899	c.900C>A	c.(898-900)atC>atA	p.I300I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2			20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)			CACATTTATAGATCTGCTTGG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000321522.2	1	1	hg19	CCDS31371.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	1	0	1	67	246	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	66	241	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4A5	81318	broad.mit.edu	37	11	51411541	51411541	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411541C>T	ENST00000319760.6	-	1	907	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	p.T285T(1)		49		all_lung(304;0.236)			AATTTCTCAACGTATATATTA	0.328000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000319760.6	1	1	hg19	CCDS31497.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	1	0	1	29	136	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	29	133	0	43	2								-17.674910	1	1	121316	3	29	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
OR4A5	81318	broad.mit.edu	37	11	51411819	51411819	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411819C>A	ENST00000319760.6	-	1	629	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5			49		all_lung(304;0.236)			ACAGTGAGGCCTATAAAGTAG	0.428000																								0							SO:0001583	missense			ENST00000319760.6	1	1	hg19	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.484	0.860521	0.17178	.	.	ENSG00000221840	ENST00000319760	T	0.00130	8.69	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.135995	0.33364	N	0.004990	T	0.00440	0.0014	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.37056	-0.9722	10	0.87932	D	0	.	4.5006	0.11862	0.0:0.804:0.0:0.196	.	193	Q8NH83	OR4A5_HUMAN	C	193	ENSP00000367664:G193C	ENSP00000367664:G193C	G	-	1	0	OR4A5	51268395	0.000000	0.05858	0.140000	0.22221	0.300000	0.27592	0.612000	0.24283	1.394000	0.46624	0.162000	0.16502	GGC		TCGA-IB-7651-01A-11D-2154-08	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	1	0	1	34	197	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	34	191	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999951	0.990000	1	9.900000e-01	1
OR4A5	81318	broad.mit.edu	37	11	51411931	51411931	+	Silent	SNP	C	C	T	rs140587389	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	p.A155A(1)		49		all_lung(304;0.236)			CAATTTGAAACGCAGAATGTA	0.453000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000319760.6	1	1	hg19	CCDS31497.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	1	0	1	56	238	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	54	230	0	58	2								-3.583078	1	1	121392	41	47	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4C46	119749	broad.mit.edu	37	11	51515910	51515910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51515910C>A	ENST00000328188.1	+	1	629	c.629C>A	c.(628-630)gCc>gAc	p.A210D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46			48					TTAAACTTTGCCCTCCTGCTG	0.517000																								0							SO:0001583	missense			ENST00000328188.1	1	1	hg19	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	1.840	-0.467648	0.04476	.	.	ENSG00000185926	ENST00000328188	T	0.39229	1.09	2.47	0.105	0.14535	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000941	T	0.41811	0.1175	M	0.75777	2.31	0.09310	N	1	B	0.19445	0.036	B	0.32022	0.139	T	0.46527	-0.9185	10	0.72032	D	0.01	.	6.6039	0.22714	0.0:0.4123:0.0:0.5877	.	210	A6NHA9	O4C46_HUMAN	D	210	ENSP00000329056:A210D	ENSP00000329056:A210D	A	+	2	0	OR4C46	51372486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.275000	0.18698	-0.122000	0.11766	-1.950000	0.00486	GCC		TCGA-IB-7651-01A-11D-2154-08	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	1	0	1	75	331	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	73	318	0	78	2								-3.258548	1	1	0	0		1						0.170000	2.060000									0	0
OR4C46	119749	broad.mit.edu	37	11	51516165	51516165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51516165C>T	ENST00000328188.1	+	1	884	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46			48					ATGAAAAATGCCATCAGGAAA	0.343000																								0							SO:0001583	missense			ENST00000328188.1	1	1	hg19	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	5.904	0.350805	0.11182	.	.	ENSG00000185926	ENST00000328188	T	0.44881	0.91	2.54	1.6	0.23607	.	0.000000	0.37809	U	0.001934	T	0.35128	0.0921	L	0.58302	1.8	0.23981	N	0.996275	B	0.30727	0.292	B	0.31191	0.125	T	0.29181	-1.0020	10	0.59425	D	0.04	.	7.0259	0.24940	0.0:0.8499:0.0:0.1501	.	295	A6NHA9	O4C46_HUMAN	V	295	ENSP00000329056:A295V	ENSP00000329056:A295V	A	+	2	0	OR4C46	51372741	0.001000	0.12720	0.633000	0.29310	0.093000	0.18481	1.114000	0.31196	0.409000	0.25649	0.186000	0.17326	GCC		TCGA-IB-7651-01A-11D-2154-08	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	1	0	1	65	265	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	64	255	0	82	2								-20.000000	1	1	121332	7	39	1						0.170000	2.060000									0	0
OR52A5	390054	broad.mit.edu	37	11	5153029	5153029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5153029G>A	ENST00000307388.1	-	1	843	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5			35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)			AACAGGTAAAGATTTGACAAG	0.383000																								0							SO:0001583	missense			ENST00000307388.1	1	1	hg19	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380793	0.24944	.	.	ENSG00000171944	ENST00000307388	T	0.00174	8.62	4.95	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000674	T	0.00241	0.0007	M	0.64080	1.96	0.35217	D	0.775657	B	0.18610	0.029	B	0.27887	0.084	T	0.59553	-0.7433	10	0.51188	T	0.08	.	12.1449	0.54018	0.0:0.0:0.6904:0.3096	.	282	Q9H2C5	O52A5_HUMAN	F	282	ENSP00000303469:L282F	ENSP00000303469:L282F	L	-	1	0	OR52A5	5109605	0.000000	0.05858	0.772000	0.31596	0.745000	0.42441	-1.550000	0.02180	1.288000	0.44600	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	1	0	1	68	298	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	68	291	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52A1	23538	broad.mit.edu	37	11	5173380	5173380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5173380C>T	ENST00000380367.1	-	2	637	c.220G>A	c.(220-222)Gca>Aca	p.A74T	OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1			19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)			CTAGCAAGTGCAATGTCTGTG	0.418000																								0							SO:0001583	missense			ENST00000380367.1	1	1	hg19	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657534	0.29425	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00402	7.56;7.56	5.37	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.806400	0.10768	N	0.636328	T	0.00384	0.0012	L	0.52823	1.66	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.40021	-0.9585	10	0.45353	T	0.12	.	8.5773	0.33605	0.271:0.6566:0.0:0.0724	.	74	Q9UKL2	O52A1_HUMAN	T	74	ENSP00000369725:A74T;ENSP00000333684:A74T	ENSP00000333684:A74T	A	-	1	0	OR52A1	5129956	0.000000	0.05858	0.328000	0.25416	0.711000	0.40976	0.037000	0.13840	0.380000	0.24823	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	1	0	1	40	167	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	40	165	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51V1	283111	broad.mit.edu	37	11	5221325	5221325	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221325T>C	ENST00000321255.1	-	1	605	c.606A>G	c.(604-606)cgA>cgG	p.R202R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1			39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			AACTATTGAATCGGATGTCTG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000321255.1	1	1	hg19	CCDS31375.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	1	0	0	14	338	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	9.997434e-01	14	333	0	67	2								-15.207530	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.480000	0.270000	1.000000	0.470000	0.513063	0.480000	0	3.600000e-01	6.400000e-01
OR51V1	283111	broad.mit.edu	37	11	5221587	5221587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221587C>T	ENST00000321255.1	-	1	343	c.344G>A	c.(343-345)gGt>gAt	p.G115D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1			39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			GAAGGACAGACCATGGATGAA	0.502000																								0							SO:0001583	missense			ENST00000321255.1	1	1	hg19	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888099	0.52014	.	.	ENSG00000176742	ENST00000321255	T	0.02709	4.19	5.48	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.141905	0.32134	N	0.006537	T	0.10637	0.0260	M	0.81497	2.545	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.18777	-1.0326	10	0.35671	T	0.21	.	2.7779	0.05352	0.1462:0.5646:0.1419:0.1473	.	115	Q9H2C8	O51V1_HUMAN	D	115	ENSP00000321729:G115D	ENSP00000321729:G115D	G	-	2	0	OR51V1	5178163	0.000000	0.05858	0.153000	0.22517	0.985000	0.73830	0.025000	0.13577	0.881000	0.35993	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	1	0	1	41	201	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	40	201	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OR51V1	283111	broad.mit.edu	37	11	5221811	5221811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221811G>T	ENST00000321255.1	-	1	119	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1			39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			AGATTGAGGAGAAGGGGATGG	0.483000																								0							SO:0001583	missense			ENST00000321255.1	1	1	hg19	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770548	0.15983	.	.	ENSG00000176742	ENST00000321255	T	0.00566	6.55	5.16	1.21	0.21127	.	0.169863	0.28187	U	0.016269	T	0.00468	0.0015	L	0.52573	1.65	0.23972	N	0.996304	B	0.16802	0.019	B	0.20384	0.029	T	0.46428	-0.9192	10	0.19147	T	0.46	.	4.9654	0.14087	0.4101:0.1459:0.4439:0.0	.	40	Q9H2C8	O51V1_HUMAN	L	40	ENSP00000321729:F40L	ENSP00000321729:F40L	F	-	3	2	OR51V1	5178387	0.001000	0.12720	0.597000	0.28824	0.389000	0.30415	-0.311000	0.08124	0.068000	0.16574	0.650000	0.86243	TTC		TCGA-IB-7651-01A-11D-2154-08	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	1	0	1	82	334	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	77	322	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51B4	79339	broad.mit.edu	37	11	5322876	5322876	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5322876T>C	ENST00000380224.1	-	1	350	c.301A>G	c.(301-303)Att>Gtt	p.I101V	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4			20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			AGTGAATGAATGAAGGATTGG	0.493000																								0							SO:0001583	missense			ENST00000380224.1	1	1	hg19	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	T	6.257	0.415455	0.11870	.	.	ENSG00000183251	ENST00000380224	T	0.37058	1.22	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.26521	0.0648	L	0.31371	0.925	0.23227	N	0.998081	B	0.30824	0.296	B	0.33454	0.164	T	0.22906	-1.0203	10	0.66056	D	0.02	.	8.086	0.30773	0.1803:0.0:0.0:0.8196	.	101	Q9Y5P0	O51B4_HUMAN	V	101	ENSP00000369573:I101V	ENSP00000369573:I101V	I	-	1	0	OR51B4	5279452	0.744000	0.28250	0.465000	0.27155	0.004000	0.04260	0.779000	0.26746	1.806000	0.52798	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	0	0	1	57	329	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	57	324	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HRAS	3265	broad.mit.edu	37	11	533503	533503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:533503C>T	ENST00000451590.1	-	4	587	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T|HRAS_ENST00000397596.2_Missense_Mutation_p.A134T|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000417302.1_Missense_Mutation_p.A134T	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	p.A134S(2)		901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)			TAGCTTCGGGCGAGGTCCTGA	0.662000		6	Mis		infrequent sarcomas, rare other types	rhadomyosarcoma, ganglioneuroblastoma, bladder			Costello syndrome	HNSCC(11;0.0054)				yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		E, L, M	2	Substitution - Missense(2)						SO:0001583	missense	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	ENST00000451590.1	1	1	hg19	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565125	0.86439	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	H	0.96748	3.875	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72625	0.938;0.978	D	0.94475	0.7688	10	0.87932	D	0	.	12.9091	0.58171	0.0:0.8348:0.1651:0.0	.	134;134	P01112-2;P01112	.;RASH_HUMAN	T	134	ENSP00000380722:A134T;ENSP00000380723:A134T;ENSP00000407586:A134T;ENSP00000388246:A134T;ENSP00000309845:A134T	ENSP00000309845:A134T	A	-	1	0	HRAS	523503	1.000000	0.71417	0.885000	0.34714	0.857000	0.48899	5.759000	0.68785	0.801000	0.34066	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	1	0	1	103	527	0	101	1	1	59	165	0	101	2		0	0	0	0	0	2	1	1	95	515	0	98	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51B5	282763	broad.mit.edu	37	11	5364599	5364599	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5364599A>G	ENST00000300773.2	-	1	210	c.156T>C	c.(154-156)aaT>aaC	p.N52N	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5			28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			GCTCATGAAGATTGTGATCTT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000300773.2	1	1	hg19	CCDS31378.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	1	0	0	62	244	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	60	239	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51M1	390059	broad.mit.edu	37	11	5411272	5411272	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411272T>C	ENST00000328611.3	+	1	666	c.644T>C	c.(643-645)gTa>gCa	p.V215A	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1			30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			CTGATGGTGGTAGTTTTCACT	0.537000																								0							SO:0001583	missense			ENST00000328611.3	1	1	hg19	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116938	0.37339	.	.	ENSG00000184698	ENST00000328611	T	0.35973	1.28	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.756085	0.10422	U	0.676577	T	0.42585	0.1209	N	0.13327	0.33	0.27101	N	0.962615	P	0.51653	0.947	P	0.62885	0.908	T	0.41378	-0.9512	10	0.45353	T	0.12	.	13.7333	0.62802	0.0:0.0:0.0:1.0	.	204	Q9H341	O51M1_HUMAN	A	215	ENSP00000333196:V215A	ENSP00000333196:V215A	V	+	2	0	OR51M1	5367848	0.000000	0.05858	0.414000	0.26521	0.007000	0.05969	-0.009000	0.12765	2.116000	0.64780	0.533000	0.62120	GTA		TCGA-IB-7651-01A-11D-2154-08	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	1	0	1	76	320	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	76	316	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR51M1	390059	broad.mit.edu	37	11	5411487	5411487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411487C>T	ENST00000328611.3	+	1	881	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1			30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			TATTCATCTTCTTATGGCCAA	0.498000																								0							SO:0001583	missense			ENST00000328611.3	1	1	hg19	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837469	0.16891	.	.	ENSG00000184698	ENST00000328611	T	0.00152	8.66	5.24	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.646517	0.11717	U	0.536311	T	0.00144	0.0004	L	0.42581	1.335	0.21386	N	0.9997	B	0.18310	0.027	B	0.30316	0.114	T	0.16837	-1.0389	10	0.44086	T	0.13	.	6.9332	0.24453	0.0:0.5769:0.2697:0.1535	.	276	Q9H341	O51M1_HUMAN	F	287	ENSP00000333196:L287F	ENSP00000333196:L287F	L	+	1	0	OR51M1	5368063	0.000000	0.05858	0.454000	0.27019	0.617000	0.37484	-1.505000	0.02273	0.364000	0.24374	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	1	0	1	33	145	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	32	144	0	35	2								-20.000000	1	1	120924	1	27	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OR51Q1	390061	broad.mit.edu	37	11	5443517	5443517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5443517C>T	ENST00000300778.4	+	1	177	c.87C>T	c.(85-87)atC>atT	p.I29I	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)			37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			ACATCTGGATCTCCATCCCCG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000300778.4	1	1	hg19	CCDS31381.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	0	0	0	30	841	0	181		0	0	0	0	181	2		0	0	0	0	0	2	1	1	29	814	0	181	2								-3.792306	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.410000	0.280000	1.000000	0.410000	0.439376	0.410000	0	3.400000e-01	5.000000e-01
OR51Q1	390061	broad.mit.edu	37	11	5444251	5444251	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5444251T>C	ENST00000300778.4	+	1	911	c.821T>C	c.(820-822)gTc>gCc	p.V274A	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)			37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			TCTCCACTGGTCCATGTTATC	0.473000																								0							SO:0001583	missense			ENST00000300778.4	1	1	hg19	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843174	0.51057	.	.	ENSG00000167360	ENST00000300778	T	0.00099	8.73	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.123758	0.36444	N	0.002588	T	0.00384	0.0012	L	0.60012	1.86	0.24171	N	0.995622	D	0.89917	1.0	D	0.85130	0.997	T	0.58329	-0.7655	10	0.54805	T	0.06	.	13.606	0.62048	0.0:0.0:0.0:1.0	.	274	Q8NH59	O51Q1_HUMAN	A	274	ENSP00000300778:V274A	ENSP00000300778:V274A	V	+	2	0	OR51Q1	5400827	0.002000	0.14202	1.000000	0.80357	0.866000	0.49608	1.311000	0.33562	2.089000	0.63090	0.311000	0.20440	GTC		TCGA-IB-7651-01A-11D-2154-08	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	1	0	0	21	403	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	9.999971e-01	21	394	0	104	2								-5.301158	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.590000	0.370000	1.000000	0.580000	0.618225	0.590000	0	4.700000e-01	7.500000e-01
OR51I2	390064	broad.mit.edu	37	11	5475516	5475516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475516G>A	ENST00000341449.2	+	1	879	c.798G>A	c.(796-798)aaG>aaA	p.K266K	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2			29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			GCTTTGGGAAGCATGTCCCAT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000341449.2	1	1	hg19	CCDS31383.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	1	0	0	157	628	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	1	152	617	0	142	2								-20.000000	1	1	121412	1	33	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52D1	390066	broad.mit.edu	37	11	5510879	5510879	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5510879A>G	ENST00000322641.5	+	1	965	c.943A>G	c.(943-945)Aag>Gag	p.K315E	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1			22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			TCACCTGGGGAAGACTTCAAT	0.413000																								0							SO:0001583	missense			ENST00000322641.5	1	1	hg19	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887179	0.33348	.	.	ENSG00000181609	ENST00000322641	T	0.40225	1.04	4.91	2.5	0.30297	.	0.193296	0.36234	N	0.002711	T	0.26521	0.0648	L	0.36672	1.1	0.09310	N	1	B	0.32573	0.376	B	0.27380	0.079	T	0.18871	-1.0323	10	0.62326	D	0.03	.	4.5443	0.12073	0.7392:0.0:0.0921:0.1687	.	315	Q9H346	O52D1_HUMAN	E	315	ENSP00000326232:K315E	ENSP00000326232:K315E	K	+	1	0	OR52D1	5467455	0.009000	0.17119	0.001000	0.08648	0.073000	0.16967	1.179000	0.31993	0.414000	0.25790	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	1	0	1	86	274	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	86	266	0	58	2								-20.000000	1	1	121410	4	36	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4A15	81328	broad.mit.edu	37	11	55135508	55135508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135508A>C	ENST00000314706.3	+	1	149	c.149A>C	c.(148-150)gAg>gCg	p.E50A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15			71					CAGAACCCTGAGGGGCAAAAG	0.443000																								0							SO:0001583	missense			ENST00000314706.3	1	1	hg19	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	6.125	0.391311	0.11581	.	.	ENSG00000181958	ENST00000314706	T	0.00438	7.42	3.48	0.908	0.19326	.	0.125811	0.35495	N	0.003167	T	0.00384	0.0012	M	0.70842	2.15	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.43343	-0.9397	10	0.36615	T	0.2	.	7.5998	0.28069	0.5696:0.4304:0.0:0.0	.	50	Q8NGL6	O4A15_HUMAN	A	50	ENSP00000325065:E50A	ENSP00000325065:E50A	E	+	2	0	OR4A15	54892084	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.029000	0.13666	-0.017000	0.14103	-0.677000	0.03784	GAG		TCGA-IB-7651-01A-11D-2154-08	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	1	0	1	54	268	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	52	264	0	72	2								-20.000000	1	1	0	0		1	1	5	6	2.678384	1	0.170000	2.060000	3.805970e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4A15	81328	broad.mit.edu	37	11	55135947	55135947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135947C>A	ENST00000314706.3	+	1	588	c.588C>A	c.(586-588)ttC>ttA	p.F196L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15			71					AGCTCCCTTTCTGTGGACCCA	0.428000																								0							SO:0001583	missense			ENST00000314706.3	1	1	hg19	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	14.70	2.612928	0.46631	.	.	ENSG00000181958	ENST00000314706	T	0.00039	8.85	3.48	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.122467	0.37219	N	0.002196	T	0.00328	0.0010	M	0.71206	2.165	0.26873	N	0.967715	D	0.60575	0.988	D	0.64595	0.927	T	0.41142	-0.9525	10	0.87932	D	0	.	5.9037	0.18980	0.0:0.7489:0.0:0.2511	.	196	Q8NGL6	O4A15_HUMAN	L	196	ENSP00000325065:F196L	ENSP00000325065:F196L	F	+	3	2	OR4A15	54892523	0.685000	0.27652	0.947000	0.38551	0.708000	0.40852	-0.010000	0.12743	0.635000	0.30488	0.492000	0.49549	TTC		TCGA-IB-7651-01A-11D-2154-08	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	1	0	1	134	610	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	127	577	0	142	2								-20.000000	1	1	0	0		1	1	5	6	2.678384	1	0.170000	2.060000	3.805970e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4A15	81328	broad.mit.edu	37	11	55136198	55136198	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55136198T>C	ENST00000314706.3	+	1	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15			71					TTATTCTTTGTCCCCTGTATC	0.413000																								0							SO:0001583	missense			ENST00000314706.3	1	1	hg19	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	17.68	3.449808	0.63290	.	.	ENSG00000181958	ENST00000314706	T	0.38240	1.15	3.65	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000387	T	0.37237	0.0996	L	0.50333	1.59	0.09310	N	0.999992	P	0.40000	0.698	P	0.47075	0.536	T	0.17258	-1.0375	10	0.56958	D	0.05	.	6.854	0.24030	0.0:0.1169:0.0:0.8831	.	280	Q8NGL6	O4A15_HUMAN	A	280	ENSP00000325065:V280A	ENSP00000325065:V280A	V	+	2	0	OR4A15	54892774	0.000000	0.05858	0.110000	0.21437	0.467000	0.32768	-0.314000	0.08092	0.488000	0.27723	0.403000	0.27427	GTC		TCGA-IB-7651-01A-11D-2154-08	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	0	0	1	223	979	0	237		0	0	0	0	237	2		0	0	0	0	0	2	1	1	220	956	0	234	2								-20.000000	1	1	121410	2	38	1	1	5	6	2.678384	1	0.170000	2.060000	3.805970e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBQLN3	50613	broad.mit.edu	37	11	5530082	5530082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530082C>T	ENST00000311659.4	-	2	854	c.707G>A	c.(706-708)aGc>aAc	p.S236N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3			39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			CCGGTCCTGGCTACGTATCAT	0.478000													Ovarian(72;684 1260 12332 41642 52180)											0							SO:0001583	missense			ENST00000311659.4	1	1	hg19	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943531	0.18281	.	.	ENSG00000175520	ENST00000311659	T	0.30714	1.52	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000042	T	0.19248	0.0462	L	0.31526	0.94	0.38581	D	0.950182	B	0.24721	0.11	B	0.24848	0.056	T	0.05886	-1.0858	10	0.05833	T	0.94	-16.6012	10.726	0.46068	0.0:0.913:0.0:0.087	.	236	Q9H347	UBQL3_HUMAN	N	236	ENSP00000347997:S236N	ENSP00000347997:S236N	S	-	2	0	UBQLN3	5486658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.282000	0.51693	2.750000	0.94351	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	1	0	1	97	412	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	95	404	0	102	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBQLN3	50613	broad.mit.edu	37	11	5530259	5530259	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530259A>T	ENST00000311659.4	-	2	677	c.530T>A	c.(529-531)aTc>aAc	p.I177N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3			39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			CAGACCCGGGATGAAGGGGTC	0.562000													Ovarian(72;684 1260 12332 41642 52180)											0							SO:0001583	missense			ENST00000311659.4	1	1	hg19	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115612	0.77323	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54279	1.13;0.58	5.55	5.55	0.83447	.	0.000000	0.48286	D	0.000187	T	0.70789	0.3264	M	0.87682	2.9	0.47862	D	0.999531	D	0.54397	0.966	P	0.55667	0.781	T	0.77236	-0.2662	10	0.87932	D	0	-9.9209	13.9369	0.64029	1.0:0.0:0.0:0.0	.	177	Q9H347	UBQL3_HUMAN	N	177	ENSP00000347997:I177N;ENSP00000412561:I177N	ENSP00000347997:I177N	I	-	2	0	UBQLN3	5486835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.344000	0.59354	2.238000	0.73509	0.477000	0.44152	ATC		TCGA-IB-7651-01A-11D-2154-08	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	1	0	1	64	357	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	63	350	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBQLN3	50613	broad.mit.edu	37	11	5530451	5530451	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530451C>A	ENST00000311659.4	-	2	485	c.338G>T	c.(337-339)aGt>aTt	p.S113I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3			39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			TGATCCAGGACTTGGGCCCTG	0.617000													Ovarian(72;684 1260 12332 41642 52180)											0							SO:0001583	missense			ENST00000311659.4	1	1	hg19	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630625	0.46944	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.54675	1.09;0.56	5.45	3.45	0.39498	.	0.408439	0.20954	N	0.082692	T	0.50956	0.1646	M	0.73962	2.25	0.09310	N	1	B	0.21753	0.06	B	0.26864	0.074	T	0.52041	-0.8628	10	0.62326	D	0.03	.	7.4533	0.27250	0.0:0.7333:0.1697:0.097	.	113	Q9H347	UBQL3_HUMAN	I	113	ENSP00000347997:S113I;ENSP00000412561:S113I	ENSP00000347997:S113I	S	-	2	0	UBQLN3	5487027	0.074000	0.21230	0.798000	0.32154	0.956000	0.61745	0.516000	0.22817	1.393000	0.46605	0.585000	0.79938	AGT		TCGA-IB-7651-01A-11D-2154-08	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	1	0	1	34	190	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	34	186	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
UBQLNL	143630	broad.mit.edu	37	11	5536814	5536814	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5536814T>G	ENST00000380184.1	-	1	1121	c.858A>C	c.(856-858)caA>caC	p.Q286H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like			33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			CAAAAGGATCTTGCATGCTGT	0.498000																								0							SO:0001583	missense			ENST00000380184.1	1	1	hg19	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	8.522	0.868898	0.17322	.	.	ENSG00000175518	ENST00000380184	T	0.54279	0.58	5.09	-3.75	0.04372	.	0.899723	0.09404	N	0.806765	T	0.37183	0.0994	L	0.49778	1.585	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39482	-0.9612	10	0.56958	D	0.05	.	0.7817	0.01041	0.4531:0.1873:0.1344:0.2252	.	286	Q8IYU4	UBQLN_HUMAN	H	286	ENSP00000369531:Q286H	ENSP00000369531:Q286H	Q	-	3	2	UBQLNL	5493390	0.000000	0.05858	0.008000	0.14137	0.593000	0.36681	-1.914000	0.01579	-0.550000	0.06183	0.533000	0.62120	CAA		TCGA-IB-7651-01A-11D-2154-08	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	1	0	1	67	256	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	65	251	1	53	19								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBQLNL	143630	broad.mit.edu	37	11	5537044	5537044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537044C>T	ENST00000380184.1	-	1	891	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like			33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			CGGGAAACTTCTGGGTTCTGC	0.468000																								0							SO:0001583	missense			ENST00000380184.1	1	1	hg19	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087164	0.36855	.	.	ENSG00000175518	ENST00000380184	T	0.59083	0.29	5.05	5.05	0.67936	.	0.000000	0.51477	D	0.000085	T	0.78142	0.4237	M	0.87682	2.9	0.48571	D	0.999671	D	0.89917	1.0	D	0.80764	0.994	T	0.81837	-0.0749	10	0.87932	D	0	.	13.8389	0.63426	0.0:1.0:0.0:0.0	.	210	Q8IYU4	UBQLN_HUMAN	K	210	ENSP00000369531:E210K	ENSP00000369531:E210K	E	-	1	0	UBQLNL	5493620	0.995000	0.38212	1.000000	0.80357	0.042000	0.13812	4.775000	0.62346	2.615000	0.88500	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	1	0	1	146	641	0	140	0	1.605609e-01	0	4	0	140	2		0	0	0	0	0	2	1	1	145	633	0	138	2								-20.000000	1	0	121412	1	33	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4C11	219429	broad.mit.edu	37	11	55371093	55371093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371093T>C	ENST00000302231.4	-	1	781	c.757A>G	c.(757-759)Ata>Gta	p.I253V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11			33					TATATGAATATACATGGGCCA	0.443000																								0							SO:0001583	missense			ENST00000302231.4	1	1	hg19	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256781	0.22965	.	.	ENSG00000172188	ENST00000302231	T	0.38887	1.11	4.12	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.112156	0.39083	N	0.001478	T	0.39091	0.1065	L	0.49640	1.575	0.09310	N	0.999997	B	0.25312	0.123	B	0.34590	0.186	T	0.38824	-0.9643	10	0.54805	T	0.06	.	8.5156	0.33244	0.0:0.0955:0.0:0.9045	.	253	Q6IEV9	OR4CB_HUMAN	V	253	ENSP00000306651:I253V	ENSP00000306651:I253V	I	-	1	0	OR4C11	55127669	0.000000	0.05858	0.836000	0.33094	0.019000	0.09904	-0.592000	0.05747	0.755000	0.32990	0.391000	0.25812	ATA		TCGA-IB-7651-01A-11D-2154-08	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	1	0	1	87	349	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	87	343	0	76	2								-20.000000	1	1	0	0		1	1	5	6	2.678384	1	0.170000	2.060000	3.805970e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4C11	219429	broad.mit.edu	37	11	55371242	55371242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371242G>A	ENST00000302231.4	-	1	632	c.608C>T	c.(607-609)gCa>gTa	p.A203V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11			33					TGAGCAAATTGCCCCACTGTT	0.398000																								0							SO:0001583	missense			ENST00000302231.4	1	1	hg19	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603905	0.03717	.	.	ENSG00000172188	ENST00000302231	T	0.34859	1.34	4.34	0.186	0.15105	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000184	T	0.09555	0.0235	N	0.03194	-0.395	0.09310	N	1	B	0.17852	0.024	B	0.19148	0.024	T	0.22417	-1.0217	10	0.02654	T	1	.	0.6945	0.00897	0.2468:0.1829:0.3829:0.1874	.	203	Q6IEV9	OR4CB_HUMAN	V	203	ENSP00000306651:A203V	ENSP00000306651:A203V	A	-	2	0	OR4C11	55127818	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-1.028000	0.03589	0.195000	0.20347	-0.349000	0.07799	GCA		TCGA-IB-7651-01A-11D-2154-08	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	1	0	0	41	429	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	40	422	0	83	2								-12.319450	1	1	0	0		1	1	5	6	2.678384	1	0.170000	2.060000	3.805970e-01	0.990000	0.990000	1.000000	1.000000	0.998841	0.990000	1	9.900000e-01	1
OR4C11	219429	broad.mit.edu	37	11	55371419	55371419	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371419A>C	ENST00000302231.4	-	1	455	c.431T>G	c.(430-432)gTt>gGt	p.V144G		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11			33					CCAGGCAAGAACAATCAGGAT	0.453000																								0							SO:0001583	missense			ENST00000302231.4	1	1	hg19	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	0.054	-1.240870	0.01493	.	.	ENSG00000172188	ENST00000302231	T	0.38240	1.15	4.34	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	1.188180	0.06487	U	0.733841	T	0.25606	0.0623	N	0.11789	0.175	0.09310	N	1	B	0.33171	0.4	B	0.43018	0.405	T	0.40776	-0.9545	10	0.18710	T	0.47	.	4.2955	0.10899	0.6869:0.2051:0.108:0.0	.	144	Q6IEV9	OR4CB_HUMAN	G	144	ENSP00000306651:V144G	ENSP00000306651:V144G	V	-	2	0	OR4C11	55127995	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.138000	0.03216	0.292000	0.22492	0.391000	0.25812	GTT		TCGA-IB-7651-01A-11D-2154-08	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	0	0	0	16	407	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	9.999240e-01	16	398	0	100	2								-16.191180	1	1	0	0		1	1	5	6	2.678384	1	0.170000	2.060000	3.805970e-01	0.610000	0.350000	0.930000	0.610000	0.627125	0.610000	0	4.700000e-01	7.700000e-01
OR4P4	81300	broad.mit.edu	37	11	55406127	55406127	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55406127A>C	ENST00000314612.2	+	1	294	c.294A>C	c.(292-294)caA>caC	p.Q98H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4			40					GTATGATACAACTCTTTACCA	0.448000																								0							SO:0001583	missense			ENST00000314612.2	1	1	hg19	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509718	0.27036	.	.	ENSG00000181927	ENST00000314612	T	0.00472	7.19	5.18	-1.46	0.08800	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001567	T	0.01489	0.0048	H	0.95004	3.61	0.23693	N	0.997095	D	0.76494	0.999	D	0.70227	0.968	T	0.28332	-1.0047	10	0.87932	D	0	-2.1273	6.2509	0.20845	0.3697:0.1177:0.5126:0.0	.	98	Q8NGL7	OR4P4_HUMAN	H	98	ENSP00000324831:Q98H	ENSP00000324831:Q98H	Q	+	3	2	OR4P4	55162703	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.000000	0.03693	-0.297000	0.08934	-0.261000	0.10672	CAA		TCGA-IB-7651-01A-11D-2154-08	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	1	0	1	129	546	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	123	535	0	110	2								-20.000000	1	1	0	0		1	1	5	6	2.678384	1	0.170000	2.060000	3.805970e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4S2	219431	broad.mit.edu	37	11	55418546	55418546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55418546C>T	ENST00000312422.2	+	1	167	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2			45		all_epithelial(135;0.0748)			TTTAAGTCACCCATGTATTTC	0.393000																								0							SO:0001583	missense			ENST00000312422.2	1	1	hg19	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410657	0.62399	.	.	ENSG00000174982	ENST00000312422	T	0.02032	4.49	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.20047	0.0482	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04961	-1.0915	10	0.87932	D	0	.	17.6575	0.88182	0.0:1.0:0.0:0.0	.	56	Q8NH73	OR4S2_HUMAN	L	56	ENSP00000310337:P56L	ENSP00000310337:P56L	P	+	2	0	OR4S2	55175122	1.000000	0.71417	0.897000	0.35233	0.125000	0.20455	6.636000	0.74299	2.512000	0.84698	0.549000	0.68633	CCC		TCGA-IB-7651-01A-11D-2154-08	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	1	0	1	119	744	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	1	117	729	0	152	2								-2.879461	1	1	0	0		1	1	5	6	2.678384	1	0.170000	2.060000	3.805970e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5D13	390142	broad.mit.edu	37	11	55541337	55541337	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55541337C>A	ENST00000361760.1	+	1	424	c.424C>A	c.(424-426)Ctc>Atc	p.L142I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13			40		all_epithelial(135;0.196)			GTCTCAGAAGCTCTGTGCTCT	0.428000																								0							SO:0001583	missense			ENST00000361760.1	1	1	hg19	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857061	0.32791	.	.	ENSG00000198877	ENST00000361760	T	0.00174	8.62	3.2	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.632696	0.12068	U	0.502545	T	0.00328	0.0010	M	0.63169	1.94	0.09310	N	1	B	0.31989	0.35	P	0.48524	0.58	T	0.22138	-1.0225	10	0.27082	T	0.32	-4.8549	9.2055	0.37287	0.0:0.8862:0.0:0.1138	.	142	Q8NGL4	OR5DD_HUMAN	I	142	ENSP00000354800:L142I	ENSP00000354800:L142I	L	+	1	0	OR5D13	55297913	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.974000	0.03794	0.714000	0.32081	0.409000	0.27619	CTC		TCGA-IB-7651-01A-11D-2154-08	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	1	0	1	160	790	0	196		0	0	0	0	196	2		0	0	0	0	0	2	1	1	161	774	0	195	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
OR5D18	219438	broad.mit.edu	37	11	55587163	55587163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587163G>A	ENST00000333976.4	+	1	78	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18			55		all_epithelial(135;0.208)			GGGCTTCTCAGATTACCCAGA	0.428000																								0							SO:0001583	missense			ENST00000333976.4	1	1	hg19	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228406	0.58777	.	.	ENSG00000186119	ENST00000333976	T	0.00433	7.43	5.18	3.3	0.37823	.	0.390655	0.18927	N	0.127316	T	0.00328	0.0010	L	0.29908	0.895	0.29344	N	0.865858	B	0.10296	0.003	B	0.24394	0.053	T	0.21861	-1.0233	10	0.42905	T	0.14	-14.4095	10.7949	0.46455	0.1567:0.0:0.8433:0.0	.	20	Q8NGL1	OR5DI_HUMAN	N	20	ENSP00000335025:D20N	ENSP00000335025:D20N	D	+	1	0	OR5D18	55343739	0.003000	0.15002	0.987000	0.45799	0.995000	0.86356	0.869000	0.27996	0.722000	0.32252	0.632000	0.83419	GAT		TCGA-IB-7651-01A-11D-2154-08	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	1	0	1	89	280	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	87	273	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5D18	219438	broad.mit.edu	37	11	55587930	55587930	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587930C>T	ENST00000333976.4	+	1	845	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18			55		all_epithelial(135;0.208)			TCAAAGTGGCCTCTGTGTTTT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000333976.4	1	1	hg19	CCDS31510.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	1	0	1	81	303	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	80	289	0	82	2								-3.871107	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5L2	26338	broad.mit.edu	37	11	55595572	55595572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55595572G>A	ENST00000378397.1	+	1	878	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2			59		all_epithelial(135;0.208)			TACAGCCTGAGAAATAAGGAT	0.473000										HNSCC(27;0.073)														0							SO:0001583	missense			ENST00000378397.1	1	1	hg19	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792977	0.50102	.	.	ENSG00000205030	ENST00000378397	T	0.39997	1.05	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000018	T	0.52677	0.1749	M	0.79343	2.45	0.31168	N	0.703581	P	0.50943	0.94	P	0.46208	0.507	T	0.65421	-0.6172	10	0.59425	D	0.04	-22.9325	17.1913	0.86880	0.0:0.0:1.0:0.0	.	293	Q8NGL0	OR5L2_HUMAN	K	293	ENSP00000367650:R293K	ENSP00000367650:R293K	R	+	2	0	OR5L2	55352148	1.000000	0.71417	0.985000	0.45067	0.146000	0.21551	5.069000	0.64370	2.471000	0.83476	0.536000	0.68110	AGA		TCGA-IB-7651-01A-11D-2154-08	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	1	0	1	52	186	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	52	183	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5D16	390144	broad.mit.edu	37	11	55606350	55606350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606350G>A	ENST00000378396.1	+	1	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16			44		all_epithelial(135;0.208)			GCTTCAGTGTGGTAGGGAATC	0.443000																								0							SO:0001819	synonymous_variant			ENST00000378396.1	1	1	hg19	CCDS31512.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	1	0	1	144	719	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1	138	706	0	154	2								-2.810010	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5D16	390144	broad.mit.edu	37	11	55606577	55606577	+	Missense_Mutation	SNP	T	T	G	rs146679837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606577T>G	ENST00000378396.1	+	1	350	c.350T>G	c.(349-351)tTt>tGt	p.F117C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16			44		all_epithelial(135;0.208)			TTAATTCTATTTGCGGTGATG	0.433000																								0							SO:0001583	missense			ENST00000378396.1	1	1	hg19	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.844326	0.51164	.	.	ENSG00000205029	ENST00000378396	T	0.01359	4.98	4.47	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03651	0.0104	L	0.36672	1.1	0.19575	N	0.999961	D	0.57257	0.979	P	0.61275	0.886	T	0.44174	-0.9345	9	0.87932	D	0	-27.7796	8.5801	0.33623	0.0:0.0997:0.0:0.9003	.	117	Q8NGK9	OR5DG_HUMAN	C	117	ENSP00000367649:F117C	ENSP00000367649:F117C	F	+	2	0	OR5D16	55363153	0.831000	0.29352	0.002000	0.10522	0.757000	0.42996	5.597000	0.67577	0.694000	0.31654	0.433000	0.28618	TTT		TCGA-IB-7651-01A-11D-2154-08	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	0	0	1	158	613	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	155	604	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52H1	390067	broad.mit.edu	37	11	5566168	5566168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5566168C>T	ENST00000322653.4	-	1	611	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1			20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			TCAGCACAGGCGAGCTGGGCA	0.483000																								0							SO:0001583	missense			ENST00000322653.4	1	1	hg19	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479877	0.44044	.	.	ENSG00000181616	ENST00000322653	T	0.00193	8.58	5.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.327597	0.25978	N	0.027090	T	0.00580	0.0019	M	0.87180	2.865	0.09310	N	1	D	0.61697	0.99	P	0.60117	0.869	T	0.41016	-0.9532	10	0.87932	D	0	.	15.5505	0.76148	0.1474:0.8526:0.0:0.0	.	196	Q8NGJ2	O52H1_HUMAN	T	196	ENSP00000326259:A196T	ENSP00000326259:A196T	A	-	1	0	OR52H1	5522744	0.000000	0.05858	0.953000	0.39169	0.510000	0.34073	-0.025000	0.12413	2.511000	0.84671	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	1	0	1	51	249	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	51	243	0	79	2								-20.000000	1	1	121412	9	43	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5W2	390148	broad.mit.edu	37	11	55681230	55681230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55681230A>C	ENST00000344514.1	-	1	828	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2			49					AGGGTGTAAAACAATGAGGTC	0.393000													Melanoma(48;171 1190 15239 43886 49348)											0							SO:0001583	missense			ENST00000344514.1	1	1	hg19	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.896046	0.33442	.	.	ENSG00000187612	ENST00000344514	T	0.00158	8.65	5.01	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000882	T	0.00384	0.0012	M	0.74881	2.28	0.20926	N	0.999825	D	0.67145	0.996	D	0.74023	0.982	T	0.41502	-0.9505	10	0.87932	D	0	.	6.6093	0.22743	0.8109:0.0:0.1891:0.0	.	277	Q8NH69	OR5W2_HUMAN	V	277	ENSP00000342448:F277V	ENSP00000342448:F277V	F	-	1	0	OR5W2	55437806	0.008000	0.16893	0.241000	0.24154	0.243000	0.25628	1.659000	0.37387	0.748000	0.32831	0.448000	0.29417	TTT		TCGA-IB-7651-01A-11D-2154-08	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	1	0	1	34	191	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	34	190	0	57	2								-17.417470	1	1	121408	1	30	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
OR5F1	338674	broad.mit.edu	37	11	55761759	55761759	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55761759A>G	ENST00000278409.1	-	1	342	c.343T>C	c.(343-345)Ttt>Ctt	p.F115L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1			58	Esophageal squamous(21;0.00448)				ATTAACCCAAAGAGGATGCAT	0.493000																								0							SO:0001583	missense			ENST00000278409.1	1	1	hg19	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.323286	0.01309	.	.	ENSG00000149133	ENST00000278409	T	0.00824	5.65	2.92	0.386	0.16254	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.00014	-2.905	0.09310	N	1	B	0.23735	0.09	B	0.22386	0.039	T	0.43750	-0.9372	9	0.02654	T	1	.	6.2785	0.20993	0.4996:0.0:0.5004:0.0	.	115	O95221	OR5F1_HUMAN	L	115	ENSP00000278409:F115L	ENSP00000278409:F115L	F	-	1	0	OR5F1	55518335	0.035000	0.19736	0.306000	0.25113	0.499000	0.33736	0.295000	0.19065	0.191000	0.20236	0.247000	0.18012	TTT		TCGA-IB-7651-01A-11D-2154-08	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	1	0	1	100	491	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	95	481	0	118	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5AS1	219447	broad.mit.edu	37	11	55798285	55798285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798285C>T	ENST00000313555.1	+	1	391	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1			48	Esophageal squamous(21;0.00693)				CAACCCACTGCTCTATACTAC	0.458000																								0							SO:0001583	missense			ENST00000313555.1	1	1	hg19	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927250	0.34002	.	.	ENSG00000181785	ENST00000313555	T	0.00760	5.73	5.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.280065	0.19121	U	0.122191	T	0.02848	0.0085	M	0.83312	2.635	0.19300	N	0.999978	D	0.53619	0.961	P	0.50405	0.64	T	0.29518	-1.0009	10	0.45353	T	0.12	.	15.7281	0.77780	0.1459:0.854:0.0:0.0	.	131	Q8N127	O5AS1_HUMAN	F	131	ENSP00000324111:L131F	ENSP00000324111:L131F	L	+	1	0	OR5AS1	55554861	0.951000	0.32395	0.939000	0.37840	0.020000	0.10135	2.180000	0.42537	2.557000	0.86248	0.643000	0.83706	CTC		TCGA-IB-7651-01A-11D-2154-08	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	1	0	1	78	371	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	78	360	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5AS1	219447	broad.mit.edu	37	11	55798820	55798820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798820G>T	ENST00000313555.1	+	1	926	c.926G>T	c.(925-927)gGa>gTa	p.G309V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1			48	Esophageal squamous(21;0.00693)				GAAAGAATTGGATATTCAAAT	0.289000																								0							SO:0001583	missense			ENST00000313555.1	1	1	hg19	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.563982	0.00903	.	.	ENSG00000181785	ENST00000313555	T	0.00355	7.91	3.1	-1.18	0.09617	.	.	.	.	.	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.06899	-1.0801	9	0.15499	T	0.54	.	3.8059	0.08777	0.2877:0.0:0.4271:0.2851	.	309	Q8N127	O5AS1_HUMAN	V	309	ENSP00000324111:G309V	ENSP00000324111:G309V	G	+	2	0	OR5AS1	55555396	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.628000	0.05515	-0.586000	0.05898	-3.086000	0.00065	GGA		TCGA-IB-7651-01A-11D-2154-08	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	1	0	1	37	248	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	35	239	0	59	2								-3.319296	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999750	0.990000	1	9.900000e-01	1
OR8H2	390151	broad.mit.edu	37	11	55873329	55873329	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55873329G>T	ENST00000313503.1	+	1	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2			61	Esophageal squamous(21;0.00693)				CTTGGGAAGAGATCAAGTGGC	0.363000										HNSCC(53;0.14)														0							SO:0001583	missense			ENST00000313503.1	1	1	hg19	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	7.949	0.744428	0.15710	.	.	ENSG00000181767	ENST00000313503	T	0.00256	8.42	3.58	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.00384	0.0012	M	0.89715	3.055	0.09310	N	1	P	0.42409	0.779	P	0.48738	0.588	T	0.21930	-1.0231	10	0.87932	D	0	.	5.563	0.17154	0.174:0.0:0.6649:0.1611	.	271	Q8N162	OR8H2_HUMAN	Y	271	ENSP00000323982:D271Y	ENSP00000323982:D271Y	D	+	1	0	OR8H2	55629905	0.000000	0.05858	0.382000	0.26119	0.058000	0.15608	-0.479000	0.06567	0.788000	0.33755	0.440000	0.28878	GAT		TCGA-IB-7651-01A-11D-2154-08	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	1	0	1	101	413	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	96	409	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8H3	390152	broad.mit.edu	37	11	55890184	55890184	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890184T>C	ENST00000313472.3	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3			42	Esophageal squamous(21;0.00693)				CTGCTGAATGTTATCTTCTCT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000313472.3	1	1	hg19	CCDS31519.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	1	0	0	280	1330	0	352		0	0	0	0	352	2		0	0	0	0	0	2	1	1	274	1306	0	355	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8H3	390152	broad.mit.edu	37	11	55890321	55890321	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890321T>C	ENST00000313472.3	+	1	473	c.473T>C	c.(472-474)gTc>gCc	p.V158A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3			42	Esophageal squamous(21;0.00693)				GACTCCTTTGTCAATGTGGTT	0.448000																								0							SO:0001583	missense			ENST00000313472.3	1	1	hg19	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	2.812	-0.246693	0.05867	.	.	ENSG00000181761	ENST00000313472	T	0.37915	1.17	3.62	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	1.117260	0.06780	N	0.785094	T	0.27098	0.0664	L	0.35542	1.07	0.09310	N	1	B	0.20052	0.041	B	0.26310	0.068	T	0.33189	-0.9878	10	0.22109	T	0.4	.	6.0785	0.19928	0.0:0.3827:0.0:0.6173	.	158	Q8N146	OR8H3_HUMAN	A	158	ENSP00000323928:V158A	ENSP00000323928:V158A	V	+	2	0	OR8H3	55646897	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	0.117000	0.15583	0.401000	0.25424	0.145000	0.16022	GTC		TCGA-IB-7651-01A-11D-2154-08	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	0	0	0	89	859	1	214		0	0	0	1	214	2		0	0	0	0	0	2	1	1	87	842	0	214	2								-19.999910	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.900000	1.000000	1.000000	0.992682	0.990000	1	9.900000e-01	1
OR8J3	81168	broad.mit.edu	37	11	55905003	55905003	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55905003T>A	ENST00000301529.1	-	1	191	c.192A>T	c.(190-192)agA>agT	p.R64S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3			59	Esophageal squamous(21;0.00693)				TAGCTAGATGTCTCAGGAAAA	0.433000																								0							SO:0001583	missense			ENST00000301529.1	1	1	hg19	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	2.806	-0.248077	0.05867	.	.	ENSG00000167822	ENST00000301529	T	0.01051	5.4	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00608	0.0020	N	0.12887	0.27	0.09310	N	1	B	0.27117	0.168	B	0.38842	0.283	T	0.45175	-0.9279	10	0.02654	T	1	.	2.4217	0.04449	0.1025:0.2904:0.3208:0.2863	.	64	Q8NGG0	OR8J3_HUMAN	S	64	ENSP00000301529:R64S	ENSP00000301529:R64S	R	-	3	2	OR8J3	55661579	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.356000	0.02609	-0.934000	0.03733	0.240000	0.17902	AGA		TCGA-IB-7651-01A-11D-2154-08	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	1	0	1	137	563	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	136	555	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8K5	219453	broad.mit.edu	37	11	55927041	55927041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927041G>T	ENST00000313447.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5			34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)			GAGACCCATAGAACACAACCA	0.413000																								0							SO:0001583	missense			ENST00000313447.1	1	1	hg19	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322342	0.60634	.	.	ENSG00000181752	ENST00000313447	T	0.00285	8.3	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00608	0.0020	M	0.83692	2.655	0.26738	N	0.970449	D	0.89917	1.0	D	0.87578	0.998	T	0.37103	-0.9720	10	0.56958	D	0.05	.	8.3924	0.32537	0.1134:0.0:0.8866:0.0	.	251	Q8NH50	OR8K5_HUMAN	L	251	ENSP00000323853:F251L	ENSP00000323853:F251L	F	-	3	2	OR8K5	55683617	0.000000	0.05858	0.990000	0.47175	0.977000	0.68977	-0.172000	0.09868	2.202000	0.70862	0.465000	0.42564	TTC		TCGA-IB-7651-01A-11D-2154-08	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	1	0	1	66	283	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	64	279	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR8K5	219453	broad.mit.edu	37	11	55927351	55927351	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927351T>G	ENST00000313447.1	-	1	442	c.443A>C	c.(442-444)cAa>cCa	p.Q148P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5			34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)			GTAGAGATATTGAATGCCCAC	0.413000																								0							SO:0001583	missense			ENST00000313447.1	1	1	hg19	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.573329	0.00131	.	.	ENSG00000181752	ENST00000313447	T	0.36520	1.25	4.18	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.110804	0.41001	N	0.000980	T	0.06188	0.0160	N	0.00095	-2.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	10	0.07175	T	0.84	.	8.1569	0.31173	0.0873:0.0:0.7549:0.1577	.	148	Q8NH50	OR8K5_HUMAN	P	148	ENSP00000323853:Q148P	ENSP00000323853:Q148P	Q	-	2	0	OR8K5	55683927	0.000000	0.05858	0.022000	0.16811	0.358000	0.29455	-0.388000	0.07352	0.503000	0.28060	-1.479000	0.00991	CAA		TCGA-IB-7651-01A-11D-2154-08	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	1	0	1	59	341	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	58	337	0	95	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OR52B6	340980	broad.mit.edu	37	11	5602224	5602224	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602224C>T	ENST00000345043.2	+	1	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6			12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			CATCCCTGGGCTGGAGCAACT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000345043.2	1	1	hg19	CCDS41611.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	1	0	1	56	259	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	55	254	0	57	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52B6	340980	broad.mit.edu	37	11	5602323	5602323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602323G>A	ENST00000345043.2	+	1	217	c.217G>A	c.(217-219)Gca>Aca	p.A73T	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6			12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			CCTCTCCCAGGCAATCCTGCA	0.507000																								0							SO:0001583	missense			ENST00000345043.2	1	1	hg19	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	8.676	0.903901	0.17760	.	.	ENSG00000187747	ENST00000345043	T	0.00402	7.56	5.15	-0.535	0.11879	GPCR, rhodopsin-like superfamily (1);	0.822472	0.09784	U	0.756273	T	0.00178	0.0005	N	0.12443	0.215	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36138	-0.9760	10	0.38643	T	0.18	.	0.6632	0.00846	0.2204:0.3738:0.1321:0.2737	.	73	Q8NGF0	O52B6_HUMAN	T	73	ENSP00000341581:A73T	ENSP00000341581:A73T	A	+	1	0	OR52B6	5558899	0.000000	0.05858	0.015000	0.15790	0.447000	0.32167	-1.811000	0.01728	0.056000	0.16144	-0.171000	0.13296	GCA		TCGA-IB-7651-01A-11D-2154-08	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	1	0	1	105	444	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	101	432	0	97	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5T1	390155	broad.mit.edu	37	11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	rs140678740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1			43	Esophageal squamous(21;0.00448)				GCTTATGATCGCTATGTAGCC	0.413000																								0							SO:0001583	missense			ENST00000313033.2	1	1	hg19	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881976	0.51908	.	.	ENSG00000181698	ENST00000313033	T	0.77489	-1.1	3.44	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.79446	0.4447	M	0.90019	3.08	0.30003	N	0.815822	B	0.28552	0.215	B	0.27715	0.082	T	0.77859	-0.2431	10	0.72032	D	0.01	.	9.96	0.41691	0.1046:0.0:0.8954:0.0	.	134	Q8NG75	OR5T1_HUMAN	H	134	ENSP00000323612:R134H	ENSP00000323612:R134H	R	+	2	0	OR5T1	55800091	0.795000	0.28851	0.070000	0.20053	0.971000	0.66376	4.024000	0.57218	0.795000	0.33922	0.465000	0.42564	CGC		TCGA-IB-7651-01A-11D-2154-08	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	1	0	1	151	866	0	194		0	0	0	0	194	2		0	0	0	0	0	2	1	1	147	844	0	204	2								-20.000000	1	1	121412	23	49	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5T1	390155	broad.mit.edu	37	11	56044027	56044027	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56044027C>T	ENST00000313033.2	+	1	999	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	p.R305W(1)		43	Esophageal squamous(21;0.00448)				CTACAGTTTGCGGAACAAAGA	0.338000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000313033.2	1	1	hg19	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707520	0.48412	2.27E-4	0.0	ENSG00000181698	ENST00000313033	T	0.41065	1.01	3.63	2.48	0.30137	.	0.000000	0.52532	D	0.000078	T	0.66877	0.2834	M	0.92026	3.265	0.20307	N	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.58864	-0.7561	10	0.87932	D	0	.	8.4943	0.33119	0.8021:0.1979:0.0:0.0	.	305	Q8NG75	OR5T1_HUMAN	W	305	ENSP00000323612:R305W	ENSP00000323612:R305W	R	+	1	2	OR5T1	55800603	0.132000	0.22450	1.000000	0.80357	0.953000	0.61014	1.223000	0.32527	0.576000	0.29452	-0.607000	0.04081	CGG		TCGA-IB-7651-01A-11D-2154-08	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	1	0	0	24	508	1	108		0	0	0	1	108	2		0	0	0	0	0	2	1	8.945335e-01	24	505	1	108	17								-3.004488	1	1	121412	27	46	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.540000	0.350000	1.000000	0.540000	0.578609	0.540000	0	4.400000e-01	6.900000e-01
OR8J1	219477	broad.mit.edu	37	11	56127922	56127922	+	Missense_Mutation	SNP	C	C	T	rs147013138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56127922C>T	ENST00000303039.3	+	1	232	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1			47	Esophageal squamous(21;0.00448)				CAACATCTGGCTCTCATTAAT	0.443000																								0							SO:0001583	missense			ENST00000303039.3	1	1	hg19	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068390	0.36470	2.27E-4	0.0	ENSG00000172487	ENST00000303039	T	0.03152	4.03	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.14570	0.0352	M	0.92738	3.34	0.09310	N	1	P	0.51351	0.944	P	0.48770	0.589	T	0.15723	-1.0427	10	0.87932	D	0	.	12.2274	0.54468	0.0:0.8277:0.1723:0.0	.	67	Q8NGP2	OR8J1_HUMAN	V	67	ENSP00000304060:A67V	ENSP00000304060:A67V	A	+	2	0	OR8J1	55884498	0.000000	0.05858	0.485000	0.27403	0.092000	0.18411	1.193000	0.32162	2.255000	0.74692	0.643000	0.83706	GCT		TCGA-IB-7651-01A-11D-2154-08	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	1	0	1	117	490	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	115	484	0	116	2								-20.000000	1	1	121410	2	34	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5R1	219479	broad.mit.edu	37	11	56185131	56185131	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56185131T>G	ENST00000312253.1	-	1	577	c.578A>C	c.(577-579)cAc>cCc	p.H193P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1			37	Esophageal squamous(21;0.00448)				TTCCTTCATGTGTGTGTCTGA	0.423000																								0							SO:0001583	missense			ENST00000312253.1	1	1	hg19	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.823943	0.50739	.	.	ENSG00000174942	ENST00000312253	T	0.00123	8.7	5.72	0.771	0.18504	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.63843	1.955	0.09310	N	1	P	0.50272	0.933	P	0.53313	0.723	T	0.46938	-0.9155	9	0.66056	D	0.02	-5.8915	9.1469	0.36939	0.0:0.403:0.0:0.597	.	193	Q8NH85	OR5R1_HUMAN	P	193	ENSP00000308595:H193P	ENSP00000308595:H193P	H	-	2	0	OR5R1	55941707	0.000000	0.05858	0.021000	0.16686	0.985000	0.73830	-1.065000	0.03458	0.096000	0.17463	0.472000	0.43445	CAC		TCGA-IB-7651-01A-11D-2154-08	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	1	0	1	79	270	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	78	262	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5M9	390162	broad.mit.edu	37	11	56230077	56230077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56230077C>T	ENST00000279791.1	-	1	800	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9			36	Esophageal squamous(21;0.00448)				TTTTGCCCTGCTCTACGGATT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000279791.1	1	1	hg19	CCDS31531.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	1	0	1	60	287	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	60	281	0	76	2								-20.000000	1	1	121408	2	33	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5M3	219482	broad.mit.edu	37	11	56237249	56237249	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237249T>C	ENST00000312240.2	-	1	765	c.725A>G	c.(724-726)cAt>cGt	p.H242R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3			37	Esophageal squamous(21;0.00448)				AGCTGTCAGATGGGACCCACA	0.473000																								0							SO:0001583	missense			ENST00000312240.2	1	1	hg19	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024257	0.75390	.	.	ENSG00000174937	ENST00000312240	T	0.00311	8.15	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000482	T	0.01222	0.0040	H	0.98238	4.18	0.42064	D	0.991172	D	0.76494	0.999	D	0.78314	0.991	T	0.17992	-1.0351	10	0.72032	D	0.01	-15.4185	12.8019	0.57591	0.0:0.0:0.0:1.0	.	242	Q8NGP4	OR5M3_HUMAN	R	242	ENSP00000312208:H242R	ENSP00000312208:H242R	H	-	2	0	OR5M3	55993825	1.000000	0.71417	0.900000	0.35374	0.964000	0.63967	5.910000	0.69931	1.897000	0.54924	0.448000	0.29417	CAT		TCGA-IB-7651-01A-11D-2154-08	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	1	0	1	63	278	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	58	262	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5M3	219482	broad.mit.edu	37	11	56237597	56237597	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237597T>G	ENST00000312240.2	-	1	417	c.377A>C	c.(376-378)aAt>aCt	p.N126T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3			37	Esophageal squamous(21;0.00448)				AAGCAGAGGATTCCCAATTGC	0.398000																								0							SO:0001583	missense			ENST00000312240.2	1	1	hg19	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	5.237	0.229209	0.09916	.	.	ENSG00000174937	ENST00000312240	T	0.00382	7.61	5.13	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.697951	0.12939	N	0.426758	T	0.00524	0.0017	M	0.87328	2.875	0.09310	N	1	B	0.30281	0.275	B	0.33121	0.158	T	0.30736	-0.9968	10	0.66056	D	0.02	-0.3966	9.4625	0.38794	0.0:0.0846:0.0:0.9154	.	126	Q8NGP4	OR5M3_HUMAN	T	126	ENSP00000312208:N126T	ENSP00000312208:N126T	N	-	2	0	OR5M3	55994173	0.000000	0.05858	0.032000	0.17829	0.003000	0.03518	0.620000	0.24403	0.809000	0.34255	0.391000	0.25812	AAT		TCGA-IB-7651-01A-11D-2154-08	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	0	0	1	101	526	0	159		0	0	0	0	159	2		0	0	0	0	0	2	1	1	101	518	0	159	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM6	117854	broad.mit.edu	37	11	5626734	5626734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5626734G>A	ENST00000278302.5	+	4	827	c.687G>A	c.(685-687)tcG>tcA	p.S229S	TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000507320.1_Silent_p.S54S|TRIM6_ENST00000445329.1_Silent_p.S54S|TRIM6_ENST00000380107.1_Silent_p.S203S|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Silent_p.S54S|TRIM6_ENST00000380097.3_Silent_p.S257S|TRIM6_ENST00000506134.1_Silent_p.S54S	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6			22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)			AGACCCAGTCGCTGCGAGAGC	0.537000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001819	synonymous_variant			ENST00000278302.5	1	1	hg19	CCDS31390.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	0	0	1	50	211	0	41	1	7.012310e-01	2	10	0	41	2		0	0	0	0	0	2	1	1	50	206	0	41	2								-20.000000	1	1	121410	1	30	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5M11	219487	broad.mit.edu	37	11	56310088	56310088	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310088A>G	ENST00000528616.2	-	1	669	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11			18					AAGGCATAGGACACCAAGACG	0.493000																								0							SO:0001583	missense			ENST00000528616.2	1	1	hg19	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877410	0.51801	.	.	ENSG00000255223	ENST00000528616	T	0.46819	0.86	4.85	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75072	0.3800	H	0.95402	3.665	0.32543	N	0.533459	D	0.89917	1.0	D	0.81914	0.995	T	0.82295	-0.0528	9	0.87932	D	0	.	9.9357	0.41550	0.8476:0.0:0.0:0.1524	.	216	Q96RB7	OR5MB_HUMAN	P	216	ENSP00000432417:S216P	ENSP00000432417:S216P	S	-	1	0	OR5M11	56066664	0.974000	0.33945	1.000000	0.80357	0.781000	0.44180	3.158000	0.50723	0.868000	0.35678	0.514000	0.50259	TCC		TCGA-IB-7651-01A-11D-2154-08	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	1	0	1	53	226	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	52	221	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5M11	219487	broad.mit.edu	37	11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11			18					CTTAATGAGCGGCGGGTCAGC	0.502000																								0							SO:0001583	missense			ENST00000528616.2	1	1	hg19	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535136	0.27475	0.0	4.74E-4	ENSG00000255223	ENST00000528616	T	0.00224	8.51	4.89	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.80422	2.495	0.21445	N	0.99969	D	0.89917	1.0	D	0.74348	0.983	T	0.47032	-0.9148	9	0.72032	D	0.01	.	7.6395	0.28286	0.1337:0.0:0.6314:0.2349	.	182	Q96RB7	OR5MB_HUMAN	L	182	ENSP00000432417:P182L	ENSP00000432417:P182L	P	-	2	0	OR5M11	56066765	0.003000	0.15002	0.493000	0.27502	0.234000	0.25298	1.152000	0.31663	0.040000	0.15660	-1.789000	0.00628	CCG		TCGA-IB-7651-01A-11D-2154-08	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	1	0	1	25	147	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999999e-01	25	143	0	23	2								-3.290819	1	1	121030	32	48	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999713	0.990000	1	9.900000e-01	1
OR5M11	219487	broad.mit.edu	37	11	56310287	56310287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310287G>A	ENST00000528616.2	-	1	470	c.447C>T	c.(445-447)gtC>gtT	p.V149V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11			18					AGAAGCCATAGACATAGGGAA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000528616.2	1	1	hg19	CCDS53629.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	1	0	1	25	113	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	9.999999e-01	24	109	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
OR5M10	390167	broad.mit.edu	37	11	56344805	56344805	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56344805A>G	ENST00000526812.2	-	1	458	c.393T>C	c.(391-393)caT>caC	p.H131H		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10			25					TGGAACTGTAATGTAAAGGGC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000526812.2	1	1	hg19	CCDS53630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	1	0	1	92	340	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	92	331	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR9G1	390174	broad.mit.edu	37	11	56467921	56467921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56467921C>T	ENST00000312153.1	+	1	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1			31					CACCACAGACCCAGGAATGCA	0.502000																								0							SO:0001583	missense			ENST00000312153.1	1	1	hg19	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	4.770	0.143221	0.09083	.	.	ENSG00000174914	ENST00000312153	T	0.00428	7.44	4.52	0.481	0.16809	.	0.000000	0.52532	D	0.000071	T	0.00328	0.0010	M	0.64170	1.965	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.46762	-0.9168	10	0.49607	T	0.09	-25.9779	4.4132	0.11443	0.1288:0.597:0.1252:0.149	.	20	Q8NH87	OR9G1_HUMAN	S	20	ENSP00000309012:P20S	ENSP00000309012:P20S	P	+	1	0	OR9G1	56224497	0.000000	0.05858	0.012000	0.15200	0.236000	0.25371	-0.416000	0.07097	0.229000	0.21039	-0.252000	0.11476	CCA		TCGA-IB-7651-01A-11D-2154-08	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	0	0	0	34	379	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	28	365	0	83	2								-3.017764	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.980000	0.690000	1.000000	1.000000	0.934396	0.980000	1	8.300000e-01	1
OR5AK2	390181	broad.mit.edu	37	11	56756842	56756842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756842G>A	ENST00000326855.2	+	1	496	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2			21					ATACATCATGGGCTCAATAAA	0.438000																								0							SO:0001583	missense			ENST00000326855.2	1	1	hg19	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921760	0.33908	.	.	ENSG00000181273	ENST00000326855	T	0.32988	1.43	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.173615	0.27442	N	0.019346	T	0.40767	0.1130	L	0.47078	1.49	0.09310	N	1	D	0.53462	0.96	P	0.54924	0.764	T	0.20306	-1.0279	10	0.46703	T	0.11	-16.038	14.912	0.70764	0.0:0.0:1.0:0.0	.	152	Q8NH90	O5AK2_HUMAN	S	152	ENSP00000322784:G152S	ENSP00000322784:G152S	G	+	1	0	OR5AK2	56513418	0.982000	0.34865	0.051000	0.19133	0.085000	0.17905	3.704000	0.54815	2.142000	0.66516	0.194000	0.17425	GGC		TCGA-IB-7651-01A-11D-2154-08	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	1	0	0	40	776	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1	39	766	0	138	2								-2.965795	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.580000	0.420000	1.000000	0.580000	0.616629	0.580000	0	4.900000e-01	7.100000e-01
OR5AK2	390181	broad.mit.edu	37	11	56756950	56756950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756950T>G	ENST00000326855.2	+	1	604	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2			21					TCTTGCTCTTTCATGCTCCAA	0.398000																								0							SO:0001583	missense			ENST00000326855.2	1	1	hg19	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	T	4.418	0.077324	0.08485	.	.	ENSG00000181273	ENST00000326855	T	0.00235	8.48	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	N	0.003332	T	0.00178	0.0005	L	0.28344	0.845	0.18873	N	0.999986	B	0.27316	0.175	B	0.35727	0.209	T	0.39663	-0.9603	10	0.40728	T	0.16	-11.9562	11.9306	0.52845	0.0:0.0:0.0:1.0	.	188	Q8NH90	O5AK2_HUMAN	A	188	ENSP00000322784:S188A	ENSP00000322784:S188A	S	+	1	0	OR5AK2	56513526	0.007000	0.16637	0.415000	0.26534	0.039000	0.13416	0.623000	0.24447	1.739000	0.51704	0.163000	0.16589	TCA		TCGA-IB-7651-01A-11D-2154-08	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	1	0	1	253	1062	0	236		0	0	0	0	236	2		0	0	0	0	0	2	1	1	247	1046	0	234	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM5	85363	broad.mit.edu	37	11	5687305	5687305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5687305C>A	ENST00000380034.3	-	6	1030	c.774G>T	c.(772-774)gaG>gaT	p.E258D	TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000305836.5_Missense_Mutation_p.E258D|TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D|TRIM5_ENST00000483835.1_5'UTR	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5			21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)			AGGTCACGTTCTCCGTCCTAA	0.408000																								0							SO:0001583	missense			ENST00000380034.3	1	1	hg19	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901831	0.33535	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853	T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9	3.84	-0.387	0.12463	.	1.506160	0.04073	N	0.308285	T	0.07052	0.0179	M	0.76838	2.35	0.09310	N	1	B;B;B	0.20261	0.043;0.004;0.001	B;B;B	0.23150	0.044;0.027;0.009	T	0.44003	-0.9356	10	0.62326	D	0.03	.	3.3104	0.07015	0.3351:0.4558:0.0:0.2091	.	258;258;258	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	D	258;258;258;258;258;259	ENSP00000380064:E258D;ENSP00000307031:E258D;ENSP00000369373:E258D;ENSP00000369366:E258D;ENSP00000380058:E258D;ENSP00000380062:E259D	ENSP00000307031:E258D	E	-	3	2	TRIM5	5643881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.486000	0.06513	-0.049000	0.13379	-0.140000	0.14226	GAG		TCGA-IB-7651-01A-11D-2154-08	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	1	0	1	62	253	0	46	1	9.999501e-01	8	55	0	46	2		0	0	0	0	0	2	1	1	59	235	0	46	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC55	219527	broad.mit.edu	37	11	56949909	56949909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56949909G>A	ENST00000497933.1	+	1	689	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55			25					GAGGCCCATGGGCTAGTCCAC	0.612000																								0							SO:0001583	missense			ENST00000497933.1	1	1	hg19	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350526	0.24512	0.0	1.16E-4	ENSG00000183908	ENST00000497933	T	0.56776	0.44	5.91	4.99	0.66335	.	0.339739	0.25786	N	0.028302	T	0.37376	0.1001	N	0.21373	0.66	0.21290	N	0.999738	B	0.06786	0.001	B	0.18263	0.021	T	0.21965	-1.0230	10	0.34782	T	0.22	.	9.813	0.40835	0.0767:0.1557:0.7677:0.0	.	151	Q6ZSA7	LRC55_HUMAN	E	181	ENSP00000419542:G181E	ENSP00000419542:G181E	G	+	2	0	LRRC55	56706485	0.353000	0.24904	0.788000	0.31933	0.979000	0.70002	2.139000	0.42149	1.467000	0.48044	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	1	0	1	59	216	0	51	0	1.214624e-01	0	3	0	51	2		0	0	0	0	0	2	1	1	58	212	0	49	2								-3.910566	1	1	121412	2	37	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC55	219527	broad.mit.edu	37	11	56950046	56950046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56950046G>A	ENST00000497933.1	+	1	826	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55			25					GGCTCTTGAGGGCCTACCGGG	0.652000																								0							SO:0001583	missense			ENST00000497933.1	1	1	hg19	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998161	0.54147	.	.	ENSG00000183908	ENST00000497933	T	0.02369	4.32	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000009	T	0.03220	0.0094	N	0.10782	0.045	0.32159	N	0.583233	B	0.25441	0.126	B	0.40864	0.342	T	0.47275	-0.9130	10	0.14252	T	0.57	.	14.3899	0.66970	0.0:0.1479:0.8521:0.0	.	197	Q6ZSA7	LRC55_HUMAN	S	227	ENSP00000419542:G227S	ENSP00000419542:G227S	G	+	1	0	LRRC55	56706622	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	3.068000	0.50018	2.724000	0.93272	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	1	0	0	34	570	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	34	565	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.670000	0.470000	1.000000	0.670000	0.699257	0.670000	0	5.600000e-01	8.200000e-01
TRIM5	85363	broad.mit.edu	37	11	5699533	5699533	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5699533C>T	ENST00000380034.3	-	4	901	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000305836.5_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5			21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)			TTTCAGAGTTCGTAAGGCTTT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000380034.3	1	1	hg19	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	-0.944	0.10392	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	0.4029	0.00428	0.1969:0.202:0.1595:0.4417	.	.	.	.	Q	92	.	.	R	-	2	0	TRIM5	5656109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.187000	0.00566	-0.007000	0.14345	-1.326000	0.01283	CGA		TCGA-IB-7651-01A-11D-2154-08	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	1	0	0	32	318	0	63	1	9.978935e-01	9	87	0	63	2		0	0	0	0	0	2	1	1	32	308	0	63	2								-10.599030	1	1	121412	3	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.760000	1.000000	1.000000	0.968010	0.990000	1	9.100000e-01	1
TNKS1BP1	85456	broad.mit.edu	37	11	57068363	57068363	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57068363G>A	ENST00000532437.1	-	9	5435	c.5124C>T	c.(5122-5124)tcC>tcT	p.S1708S	TNKS1BP1_ENST00000358252.3_Silent_p.S1708S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa			64		all_epithelial(135;0.21)			CCTACCCTGAGGATTTCTCTG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000532437.1	1	1	hg19	CCDS7951.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	1	0	1	137	614	0	131	1	1	134	440	0	131	2		0	0	0	0	0	2	1	1	136	604	0	130	2								-3.021652	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNKS1BP1	85456	broad.mit.edu	37	11	57076499	57076499	+	Missense_Mutation	SNP	G	G	A	rs139978039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076499G>A	ENST00000532437.1	-	5	3997	c.3686C>T	c.(3685-3687)tCt>tTt	p.S1229F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa			64		all_epithelial(135;0.21)			ATTAACATCAGAAGTCCAGTC	0.582000																								0							SO:0001583	missense			ENST00000532437.1	1	1	hg19	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185709	0.38609	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33438	1.41;1.41	5.05	0.667	0.17907	.	0.907000	0.09290	N	0.822392	T	0.39911	0.1096	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	P	0.59825	0.864	T	0.22173	-1.0224	10	0.72032	D	0.01	-3.2115	4.4738	0.11726	0.0804:0.2886:0.482:0.1489	.	1229	Q9C0C2	TB182_HUMAN	F	1229	ENSP00000350990:S1229F;ENSP00000437271:S1229F	ENSP00000350990:S1229F	S	-	2	0	TNKS1BP1	56833075	0.043000	0.20138	0.017000	0.16124	0.501000	0.33797	0.663000	0.25053	0.152000	0.19188	0.462000	0.41574	TCT		TCGA-IB-7651-01A-11D-2154-08	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	1	0	1	356	1400	0	306	1	1	98	283	0	306	2		0	0	0	0	0	2	1	1	342	1370	0	304	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNKS1BP1	85456	broad.mit.edu	37	11	57076904	57076904	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076904A>G	ENST00000532437.1	-	5	3592	c.3281T>C	c.(3280-3282)gTt>gCt	p.V1094A	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa			64		all_epithelial(135;0.21)			CTGGGGGCCAACACTGAGGCT	0.612000																								0							SO:0001583	missense			ENST00000532437.1	1	1	hg19	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	A	9.350	1.065205	0.20067	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32753	1.44;1.44	4.85	2.33	0.28932	.	0.498700	0.16510	N	0.211295	T	0.22936	0.0554	N	0.21142	0.635	0.09310	N	1	D	0.56287	0.975	P	0.53062	0.717	T	0.08310	-1.0728	10	0.10111	T	0.7	-3.9478	4.1775	0.10358	0.5689:0.1727:0.0:0.2584	.	1094	Q9C0C2	TB182_HUMAN	A	1094	ENSP00000350990:V1094A;ENSP00000437271:V1094A	ENSP00000350990:V1094A	V	-	2	0	TNKS1BP1	56833480	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.067000	0.11579	0.691000	0.31592	0.379000	0.24179	GTT		TCGA-IB-7651-01A-11D-2154-08	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	1	0	1	87	306	0	85	1	1	87	307	0	85	2		0	0	0	0	0	2	1	1	86	300	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNKS1BP1	85456	broad.mit.edu	37	11	57077332	57077332	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57077332C>T	ENST00000532437.1	-	5	3164	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	TNKS1BP1_ENST00000358252.3_Silent_p.E951E|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa			64		all_epithelial(135;0.21)			TCTTCCCAAACTCCTGTTCCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000532437.1	1	1	hg19	CCDS7951.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	1	0	1	163	747	0	200	1	1	116	358	0	200	2		0	0	0	0	0	2	1	1	151	677	0	172	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSRP1	6749	broad.mit.edu	37	11	57098390	57098390	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57098390C>T	ENST00000278412.2	-	10	1501	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1			23					AAACAGTTTCCCGTACTCCTC	0.493000													Colon(89;1000 1340 6884 23013 41819)											0							SO:0001583	missense			ENST00000278412.2	1	1	hg19	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317282	0.60524	.	.	ENSG00000149136	ENST00000278412	T	0.41065	1.01	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.25890	0.77	0.80722	D	1	B	0.32968	0.392	B	0.37943	0.261	T	0.05022	-1.0911	10	0.07482	T	0.82	-24.3985	15.5356	0.76001	0.0:1.0:0.0:0.0	.	412	Q08945	SSRP1_HUMAN	E	412	ENSP00000278412:G412E	ENSP00000278412:G412E	G	-	2	0	SSRP1	56854966	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.029000	0.76477	2.423000	0.82170	0.555000	0.69702	GGG		TCGA-IB-7651-01A-11D-2154-08	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	1	0	1	38	229	0	52	1	1	116	370	0	52	2		0	0	0	0	0	2	1	1	38	223	0	51	2								-3.079496	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
SSRP1	6749	broad.mit.edu	37	11	57102123	57102123	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57102123C>T	ENST00000278412.2	-	3	321		c.e3-1			NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1			23					GACCATCATTCTGTAAGAAAA	0.502000													Colon(89;1000 1340 6884 23013 41819)											0							SO:0001630	splice_region_variant			ENST00000278412.2	1	1	hg19	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909000	0.72868	.	.	ENSG00000149136	ENST00000278412	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.09	0.97815	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSRP1	56858699	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.216000	0.77974	2.848000	0.98002	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	1	0	1	88	431	0	105	1	7.810864e-02	2	1	0	105	2		0	0	0	0	0	2	1	1	88	420	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRG2	5553	broad.mit.edu	37	11	57156117	57156117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57156117C>T	ENST00000311862.5	-	4	504	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)			10				Sargramostim(DB00020)	ACACTGGATTCGATAATTAAT	0.488000																								0							SO:0001583	missense			ENST00000311862.5	1	1	hg19	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033745	0.19590	2.27E-4	0.0	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.18502	2.21;2.21;2.21	5.32	-10.6	0.00265	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.450750	0.04539	N	0.387862	T	0.06508	0.0167	N	0.05177	-0.1	0.09310	N	1	B;B	0.20550	0.0;0.046	B;B	0.15870	0.001;0.014	T	0.30031	-0.9992	10	0.27082	T	0.32	.	9.5745	0.39450	0.216:0.5966:0.0:0.1874	.	133;144	A6XMW0;P13727	.;PRG2_HUMAN	Q	144;133;144	ENSP00000312134:R144Q;ENSP00000433231:R133Q;ENSP00000433016:R144Q	ENSP00000312134:R144Q	R	-	2	0	PRG2	56912693	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.161000	0.00283	-1.470000	0.01888	-2.087000	0.00375	CGA		TCGA-IB-7651-01A-11D-2154-08	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	1	0	1	168	722	0	191	0	4.641692e-01	0	8	0	191	2		0	0	0	0	0	2	1	1	164	708	0	188	2								-20.000000	1	1	121412	4	43	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC43A3	29015	broad.mit.edu	37	11	57193571	57193571	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57193571G>A	ENST00000395123.2	-	3	379	c.75C>T	c.(73-75)ggC>ggT	p.G25G	SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_Silent_p.G25G|SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000533524.1_Silent_p.G25G|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3			27					CAAAGAGGACGCCAGCAAAGC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000395123.2	1	1	hg19	CCDS7956.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	1	0	1	131	529	0	108	1	1	4	96	0	108	2		0	0	0	0	0	2	1	1	130	517	0	105	2								-20.000000	1	1	121410	1	31	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM22	10346	broad.mit.edu	37	11	5730696	5730696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5730696C>T	ENST00000379965.3	+	8	1592	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22			23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			TATGGCTGTGCCTCCCTGTCG	0.438000													GBM(104;491 2336 5222)											0							SO:0001583	missense			ENST00000379965.3	1	1	hg19	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957176	0.53293	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.68331	-0.32	3.88	2.96	0.34315	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78604	0.4309	M	0.75264	2.295	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.65294	-0.6203	9	0.34782	T	0.22	.	9.8691	0.41164	0.0:0.8923:0.0:0.1077	.	361;435;439	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	S	439;250;361	ENSP00000369299:P439S	ENSP00000369299:P439S	P	+	1	0	TRIM22	5687272	0.000000	0.05858	0.008000	0.14137	0.539000	0.34962	0.139000	0.16036	0.939000	0.37446	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	0	0	0	24	649	0	122	1	9.992848e-01	7	297	0	122	2		0	0	0	0	0	2	1	9.999996e-01	24	637	0	120	2								-3.496783	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.420000	0.270000	1.000000	0.420000	0.455965	0.420000	0	3.400000e-01	5.300000e-01
SERPING1	710	broad.mit.edu	37	11	57373534	57373534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57373534G>T	ENST00000278407.4	+	5	964	c.737G>T	c.(736-738)aGc>aTc	p.S246I	SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I|SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I|SERPING1_ENST00000403558.1_Missense_Mutation_p.S280I|SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1			27					CTGTACAGCAGCAGCCCCAGA	0.547000																								0							SO:0001583	missense			ENST00000278407.4	1	1	hg19	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.806050	0.50421	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.23	2.22	0.28083	Serpin domain (3);	0.426738	0.28036	N	0.016851	D	0.90549	0.7038	M	0.86864	2.845	0.37094	D	0.899581	D;D;D;D	0.76494	0.99;0.999;0.99;0.99	P;D;P;P	0.68192	0.904;0.956;0.904;0.904	D	0.89377	0.3679	10	0.87932	D	0	.	4.7356	0.12986	0.1933:0.1795:0.6271:0.0	.	251;280;246;246	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	I	246;246;251;194;280	ENSP00000278407:S246I;ENSP00000341861:S246I;ENSP00000367574:S251I;ENSP00000367575:S194I;ENSP00000384420:S280I	ENSP00000278407:S246I	S	+	2	0	SERPING1	57130110	0.240000	0.23847	1.000000	0.80357	0.333000	0.28666	0.306000	0.19279	0.552000	0.29026	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	1	0	1	126	602	0	158	1	1	877	5576	0	158	2		0	0	0	0	0	2	1	1	125	592	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZDHHC5	25921	broad.mit.edu	37	11	57457546	57457546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57457546G>A	ENST00000287169.3	+	5	1790	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5			18					TGTATTGGTCGCCGGAACTAC	0.458000																								0							SO:0001583	missense			ENST00000287169.3	1	1	hg19	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687494	0.96784	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.23	5.23	0.72850	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.056441	0.64402	N	0.000001	T	0.47395	0.1443	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.42515	-0.9447	10	0.87932	D	0	-12.894	18.5851	0.91187	0.0:0.0:1.0:0.0	.	143	Q9C0B5	ZDHC5_HUMAN	H	90;143;41;41	ENSP00000432202:R90H;ENSP00000287169:R143H;ENSP00000431209:R41H;ENSP00000435593:R41H	ENSP00000287169:R143H	R	+	2	0	ZDHHC5	57214122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.125000	0.94402	2.714000	0.92807	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	1	0	1	140	606	0	119	1	1	68	226	0	119	2		0	0	0	0	0	2	1	1	138	590	0	119	2								-3.323532	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMX2	51075	broad.mit.edu	37	11	57506148	57506148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57506148C>T	ENST00000278422.4	+	5	466	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	C11orf31_ENST00000534355.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R114W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2			12					GGAACTAGAACGGGACAAGAG	0.473000																								0							SO:0001583	missense			ENST00000278422.4	1	1	hg19	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275613	0.40294	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.03441	3.93;3.93	5.95	5.03	0.67393	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.209158	0.39407	U	0.001366	T	0.11965	0.0291	M	0.67625	2.065	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	P;P	0.58928	0.788;0.848	T	0.00453	-1.1730	10	0.87932	D	0	-11.7709	9.7442	0.40437	0.1413:0.7884:0.0:0.0704	.	114;152	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	114;152	ENSP00000367562:R114W;ENSP00000278422:R152W	ENSP00000278422:R152W	R	+	1	2	TMX2	57262724	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.331000	0.33793	1.495000	0.48549	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	1	0	1	86	444	0	135	1	1	144	357	0	135	2		0	0	0	0	0	2	1	1	86	439	0	135	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNND1	1500	broad.mit.edu	37	11	57564342	57564342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57564342G>A	ENST00000399050.4	+	6	1370	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000526938.1_Silent_p.E278E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532844.1_Silent_p.E224E|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000524630.1_Silent_p.E278E|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000532649.1_Silent_p.E224E	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1			45		all_epithelial(135;0.155)			TTCATCCAGAGCCTTATGGGC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000399050.4	1	1	hg19	CCDS44604.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	1	0	0	162	726	0	171	1	1	108	175	0	171	2		0	0	0	0	0	2	1	1	160	709	0	169	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52N4	390072	broad.mit.edu	37	11	5776325	5776325	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5776325C>A	ENST00000317254.3	+	1	403	c.355C>A	c.(355-357)Ctt>Att	p.L119I	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)			26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			GGTGCTTATGCTTATGGCCCT	0.488000																								0							SO:0001583	missense			ENST00000317254.3	1	1	hg19	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133435	0.37630	.	.	ENSG00000181074	ENST00000317254	T	0.02837	4.14	5.97	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000543	T	0.07818	0.0196	L	0.35542	1.07	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.12400	-1.0549	10	0.66056	D	0.02	.	9.7107	0.40243	0.0:0.7793:0.1439:0.0768	.	119	Q8NGI2	O52N4_HUMAN	I	119	ENSP00000323224:L119I	ENSP00000323224:L119I	L	+	1	0	OR52N4	5732901	0.019000	0.18553	0.998000	0.56505	0.737000	0.42083	0.191000	0.17076	2.834000	0.97654	0.557000	0.71058	CTT		TCGA-IB-7651-01A-11D-2154-08	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	1	0	0	24	505	0	113	0	2.292316e-03	0	2	0	113	2		0	0	0	0	0	2	1	9.999996e-01	24	492	0	111	2								-4.681840	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.540000	0.350000	1.000000	0.530000	0.568280	0.540000	0	4.400000e-01	6.800000e-01
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1			21		Breast(21;0.0707)|all_epithelial(135;0.142)			TAGCCTTGTCGTGCTCAGATG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000302622.3	1	1	hg19	CCDS31541.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	1	0	0	30	694	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	31	681	0	119	2								-3.979733	1	1	121412	2	38	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.500000	0.340000	1.000000	0.490000	0.534499	0.500000	0	4.100000e-01	6.200000e-01
OR1S1	219959	broad.mit.edu	37	11	57982253	57982253	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982253A>G	ENST00000309433.6	+	1	37	c.37A>G	c.(37-39)Aat>Gat	p.N13D		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1			48		Breast(21;0.0589)			GATCGGCAGAAATATGCATCA	0.403000																								0							SO:0001583	missense			ENST00000309433.6	1	1	hg19	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	0.164	-1.078147	0.01903	.	.	ENSG00000172774	ENST00000309433	T	0.57752	0.38	3.4	0.804	0.18697	.	0.345842	0.20757	N	0.086256	T	0.27349	0.0671	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08046	-1.0741	10	0.30854	T	0.27	.	3.6178	0.08083	0.691:0.0:0.1169:0.1921	.	13	Q8NH92	OR1S1_HUMAN	D	13	ENSP00000311688:N13D	ENSP00000311688:N13D	N	+	1	0	OR1S1	57738829	0.015000	0.18098	0.978000	0.43139	0.170000	0.22686	1.714000	0.37961	0.361000	0.24292	0.392000	0.25879	AAT		TCGA-IB-7651-01A-11D-2154-08	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	1	0	1	88	406	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	85	397	0	97	2								-20.000000	1	0	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1S1	219959	broad.mit.edu	37	11	57982274	57982274	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982274A>G	ENST00000309433.6	+	1	58	c.58A>G	c.(58-60)Acc>Gcc	p.T20A		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1			48		Breast(21;0.0589)			AGGAAACCAAACCACCATCAC	0.413000																								0							SO:0001583	missense			ENST00000309433.6	1	1	hg19	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347191	0.24426	.	.	ENSG00000172774	ENST00000309433	T	0.04406	3.63	3.45	3.45	0.39498	.	0.000000	0.50627	D	0.000111	T	0.11707	0.0285	M	0.88704	2.975	0.09310	N	1	D	0.54207	0.965	P	0.44518	0.452	T	0.16928	-1.0386	10	0.72032	D	0.01	.	9.8205	0.40880	1.0:0.0:0.0:0.0	.	20	Q8NH92	OR1S1_HUMAN	A	20	ENSP00000311688:T20A	ENSP00000311688:T20A	T	+	1	0	OR1S1	57738850	0.016000	0.18221	0.424000	0.26647	0.014000	0.08584	2.735000	0.47377	1.443000	0.47586	0.392000	0.25879	ACC		TCGA-IB-7651-01A-11D-2154-08	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	0	0	1	97	470	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	97	460	0	109	2								-20.000000	1	0	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52N5	390075	broad.mit.edu	37	11	5799527	5799527	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799527A>G	ENST00000317093.2	-	1	370	c.338T>C	c.(337-339)gTt>gCt	p.V113A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5			33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			GAACCCATGAACAAAGAACAT	0.493000																								0							SO:0001583	missense			ENST00000317093.2	1	1	hg19	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270074	0.40194	.	.	ENSG00000181009	ENST00000317093	T	0.03181	4.02	3.7	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28431	U	0.015374	T	0.09158	0.0226	M	0.63208	1.945	0.23677	N	0.997139	D	0.54964	0.969	P	0.54856	0.762	T	0.06232	-1.0838	10	0.87932	D	0	.	7.7915	0.29123	0.8961:0.0:0.1038:0.0	.	113	Q8NH56	O52N5_HUMAN	A	113	ENSP00000322866:V113A	ENSP00000322866:V113A	V	-	2	0	OR52N5	5756103	0.008000	0.16893	0.989000	0.46669	0.910000	0.53928	2.530000	0.45641	0.607000	0.29982	0.405000	0.27470	GTT		TCGA-IB-7651-01A-11D-2154-08	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	1	0	1	78	313	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	73	311	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10Q1	219960	broad.mit.edu	37	11	57995968	57995968	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57995968T>C	ENST00000316770.2	-	1	422	c.380A>G	c.(379-381)tAt>tGt	p.Y127C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	p.Y127F(1)		35		Breast(21;0.0589)			GATAGCCACATAGCGGTCATA	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000316770.2	1	1	hg19	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432837	0.25813	.	.	ENSG00000180475	ENST00000316770	T	0.56444	0.46	4.45	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.196371	0.25172	N	0.032585	T	0.67468	0.2896	M	0.81239	2.535	0.29356	N	0.865038	D	0.89917	1.0	D	0.68621	0.959	T	0.63251	-0.6679	10	0.66056	D	0.02	.	5.8888	0.18896	0.1485:0.084:0.0:0.7675	.	127	Q8NGQ4	O10Q1_HUMAN	C	127	ENSP00000314324:Y127C	ENSP00000314324:Y127C	Y	-	2	0	OR10Q1	57752544	0.999000	0.42202	0.010000	0.14722	0.057000	0.15508	3.287000	0.51732	0.720000	0.32209	0.455000	0.32223	TAT		TCGA-IB-7651-01A-11D-2154-08	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	1	0	1	44	177	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	43	176	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52N5	390075	broad.mit.edu	37	11	5799696	5799696	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799696T>C	ENST00000317093.2	-	1	201	c.169A>G	c.(169-171)Att>Gtt	p.I57V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5			33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			TCATAATAAATGAGGTACACA	0.453000																								0							SO:0001583	missense			ENST00000317093.2	1	1	hg19	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	T	9.317	1.057008	0.19907	.	.	ENSG00000181009	ENST00000317093	T	0.06687	3.27	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31167	U	0.008127	T	0.09291	0.0229	L	0.53617	1.68	0.23751	N	0.996947	B	0.25719	0.132	B	0.21360	0.034	T	0.15896	-1.0421	10	0.41790	T	0.15	.	11.1721	0.48577	0.0:0.0:0.0:1.0	.	57	Q8NH56	O52N5_HUMAN	V	57	ENSP00000322866:I57V	ENSP00000322866:I57V	I	-	1	0	OR52N5	5756272	0.023000	0.18921	0.225000	0.23894	0.055000	0.15305	0.214000	0.17541	1.570000	0.49709	0.147000	0.16070	ATT		TCGA-IB-7651-01A-11D-2154-08	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	1	0	0	32	619	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1	30	610	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.580000	0.400000	1.000000	0.580000	0.608163	0.580000	0	4.900000e-01	7.100000e-01
OR52N5	390075	broad.mit.edu	37	11	5799846	5799846	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799846A>C	ENST00000317093.2	-	1	51	c.19T>G	c.(19-21)Tta>Gta	p.L7V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5			33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			AACCAGCATAATGAATTAAAT	0.348000																								0							SO:0001583	missense			ENST00000317093.2	1	1	hg19	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	5.988	0.366239	0.11352	.	.	ENSG00000181009	ENST00000317093	T	0.00004	9.8	3.59	-1.95	0.07548	.	0.000000	0.36854	U	0.002370	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.27823	0.19	B	0.27608	0.081	T	0.14783	-1.0460	10	0.72032	D	0.01	.	4.7112	0.12873	0.5218:0.1625:0.3156:0.0	.	7	Q8NH56	O52N5_HUMAN	V	7	ENSP00000322866:L7V	ENSP00000322866:L7V	L	-	1	2	OR52N5	5756422	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.010000	0.12743	-0.138000	0.11434	-0.539000	0.04255	TTA		TCGA-IB-7651-01A-11D-2154-08	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	1	0	1	98	369	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	98	359	0	105	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5B3	441608	broad.mit.edu	37	11	58170524	58170524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170524C>T	ENST00000309403.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	p.R120L(1)		34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)			TGCTGCATAGCGGTCATAGGC	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000309403.2	1	1	hg19	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547375	0.45383	.	.	ENSG00000172769	ENST00000309403	T	0.77489	-1.1	3.96	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.136459	0.34156	N	0.004202	T	0.77485	0.4137	M	0.85630	2.765	0.35002	D	0.756051	P	0.50369	0.934	B	0.40602	0.334	D	0.84664	0.0708	10	0.66056	D	0.02	-27.9791	10.5958	0.45336	0.0:0.9022:0.0:0.0978	.	120	Q8NH48	OR5B3_HUMAN	H	120	ENSP00000308270:R120H	ENSP00000308270:R120H	R	-	2	0	OR5B3	57927100	0.985000	0.35326	0.999000	0.59377	0.517000	0.34286	2.456000	0.44997	1.023000	0.39654	-0.237000	0.12165	CGC		TCGA-IB-7651-01A-11D-2154-08	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	1	0	1	91	453	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	90	443	0	113	2								-20.000000	1	1	121412	4	40	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5B12	390191	broad.mit.edu	37	11	58206921	58206921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58206921G>A	ENST00000302572.2	-	1	725	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12			40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)			AGTAGAAAAGGCCTTCTGGCG	0.423000																								0							SO:0001583	missense			ENST00000302572.2	1	1	hg19	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016010	0.75161	.	.	ENSG00000172362	ENST00000302572	T	0.00342	8.03	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.139797	0.32852	N	0.005562	T	0.00724	0.0024	M	0.80847	2.515	0.45867	D	0.998727	P	0.43169	0.8	P	0.55161	0.77	T	0.74853	-0.3523	10	0.62326	D	0.03	-24.8721	16.2624	0.82553	0.0:0.0:1.0:0.0	.	235	Q96R08	OR5BC_HUMAN	V	235	ENSP00000306657:A235V	ENSP00000306657:A235V	A	-	2	0	OR5B12	57963497	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.742000	0.55097	2.383000	0.81215	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	1	0	1	66	275	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	64	266	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5B12	390191	broad.mit.edu	37	11	58207122	58207122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58207122C>A	ENST00000302572.2	-	1	524	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12			40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)			TACATTGGATCTACAGAAGGA	0.428000																								0							SO:0001583	missense			ENST00000302572.2	1	1	hg19	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117468	0.20877	.	.	ENSG00000172362	ENST00000302572	T	0.37058	1.22	4.3	-0.761	0.11038	GPCR, rhodopsin-like superfamily (1);	0.743067	0.12175	N	0.492642	T	0.27731	0.0682	L	0.48362	1.52	0.09310	N	1	B	0.31077	0.307	B	0.32342	0.144	T	0.21965	-1.0230	10	0.46703	T	0.11	-24.6222	6.1961	0.20550	0.0:0.3526:0.1345:0.5129	.	168	Q96R08	OR5BC_HUMAN	I	168	ENSP00000306657:R168I	ENSP00000306657:R168I	R	-	2	0	OR5B12	57963698	0.000000	0.05858	0.005000	0.12908	0.704000	0.40688	-0.318000	0.08050	-0.009000	0.14296	0.462000	0.41574	AGA		TCGA-IB-7651-01A-11D-2154-08	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	1	0	1	59	316	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	58	311	0	71	2								-3.230332	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFP91	80829	broad.mit.edu	37	11	58381795	58381795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58381795C>T	ENST00000316059.6	+	9	1252	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein			26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)			GCAACTTCTGCGACATGCCAA	0.388000																								0							SO:0001587	stop_gained			ENST00000316059.6	0	1	hg19	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	39	7.811760	0.98504	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0583	19.2039	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	361	.	ENSP00000374569:R361X	R	+	1	2	ZFP91	58138371	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	1	0	0	31	204	0	70	1	1	15	209	0	70	2		0	0	0	0	0	2	1	1	31	198	0	69	2								-3.320474	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999581	0.990000	1	9.900000e-01	1
ZFP91	80829	broad.mit.edu	37	11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein			26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)			CAATGCAGGCGCCCTCATCAC	0.537000																								0							SO:0001583	missense			ENST00000316059.6	1	1	hg19	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337103	0.81801	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12774	2.65	6.16	6.16	0.99307	.	0.221703	0.38897	N	0.001522	T	0.24890	0.0604	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.62298	0.9;0.89	T	0.00575	-1.1663	10	0.23891	T	0.37	-9.8508	19.6313	0.95704	0.0:0.0:1.0:0.0	.	468;468	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	T	468	ENSP00000339030:A468T	ENSP00000374569:A468T	A	+	1	0	ZFP91	58141444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.937000	0.99478	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	1	0	0	54	205	0	43	1	1	19	203	0	43	2		0	0	0	0	0	2	1	1	52	199	0	43	2								-20.000000	1	1	121408	2	33	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFP91	80829	broad.mit.edu	37	11	58385162	58385162	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58385162G>T	ENST00000316059.6	+	11	1867	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein			26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)			tGAAGATTCAGACTCTGCCGG	0.443000																								0							SO:0001583	missense			ENST00000316059.6	1	1	hg19	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837418	0.50951	.	.	ENSG00000186660	ENST00000316059	T	0.14893	2.47	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	T	0.32526	0.0832	L	0.29908	0.895	0.46701	D	0.999162	D	0.65815	0.995	D	0.68192	0.956	T	0.01643	-1.1305	10	0.87932	D	0	-20.1467	19.1254	0.93380	0.0:0.0:1.0:0.0	.	566	Q96JP5	ZFP91_HUMAN	Y	566	ENSP00000339030:D566Y	ENSP00000339030:D566Y	D	+	1	0	ZFP91	58141738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.826000	0.97356	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	0	0	0	22	548	0	99	1	9.976315e-01	19	218	0	99	2		0	0	0	0	0	2	1	9.999983e-01	22	533	0	98	2								-4.085970	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.460000	0.290000	1.000000	0.460000	0.506304	0.460000	0	3.700000e-01	6.000000e-01
OR52N2	390077	broad.mit.edu	37	11	5842359	5842359	+	Missense_Mutation	SNP	G	G	A	rs150750582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5842359G>A	ENST00000317037.2	+	1	816	c.794G>A	c.(793-795)cGt>cAt	p.R265H	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	p.R265H(1)		32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)			TTCACTCATCGTTTTGTAGGA	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000317037.2	1	1	hg19	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	G	7.467	0.645803	0.14451	0.0	1.16E-4	ENSG00000180988	ENST00000317037	T	0.00130	8.69	6.09	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.116572	0.39544	N	0.001333	T	0.00271	0.0008	M	0.85859	2.78	0.20196	N	0.999924	B	0.15719	0.014	B	0.23275	0.045	T	0.38499	-0.9658	10	0.66056	D	0.02	.	15.0853	0.72148	0.1298:0.0:0.8702:0.0	.	265	Q8NGI0	O52N2_HUMAN	H	265	ENSP00000322801:R265H	ENSP00000322801:R265H	R	+	2	0	OR52N2	5798935	0.026000	0.19158	0.498000	0.27564	0.003000	0.03518	1.478000	0.35442	0.473000	0.27368	-0.829000	0.03081	CGT		TCGA-IB-7651-01A-11D-2154-08	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	1	0	1	103	468	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	100	458	0	101	2								-20.000000	1	1	121412	5	42	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLYATL1	92292	broad.mit.edu	37	11	58723238	58723238	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58723238T>A	ENST00000317391.4	+	8	987	c.647T>A	c.(646-648)gTc>gAc	p.V216D	RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.V247D|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1			34				Glycine(DB00145)	CCAGAGGGAGTCCCGGTCTCA	0.532000																								0							SO:0001583	missense			ENST00000317391.4	1	1	hg19	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	1.884	-0.457231	0.04540	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16597	2.33;2.33	2.62	-5.25	0.02781	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	1.743380	0.03968	U	0.291199	T	0.05823	0.0152	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.30909	-0.9962	10	0.14656	T	0.56	.	3.8067	0.08780	0.5822:0.2383:0.0:0.1796	.	247;216	Q969I3-2;Q969I3	.;GLYL1_HUMAN	D	193;216;247	ENSP00000322223:V216D;ENSP00000300079:V247D	ENSP00000300079:V247D	V	+	2	0	GLYATL1	58479814	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-4.651000	0.00203	-0.886000	0.03966	0.338000	0.21704	GTC		TCGA-IB-7651-01A-11D-2154-08	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	1	0	1	41	207	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	41	204	0	35	2								-19.993260	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PHRF1	57661	broad.mit.edu	37	11	587346	587346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:587346C>A	ENST00000264555.5	+	4	430	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1			28					TCTTTCAATTCTGATGATGAT	0.562000																								0							SO:0001583	missense			ENST00000264555.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.15	3.316680	0.60524	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.82711	-1.63;-1.62;-1.64;-1.62	4.81	4.81	0.61882	.	0.000000	0.36482	N	0.002568	D	0.90981	0.7164	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.92354	0.5892	10	0.87932	D	0	-17.4689	16.643	0.85134	0.0:1.0:0.0:0.0	.	97;100;101;101	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	101;100;101;97	ENSP00000264555:S101Y;ENSP00000388589:S100Y;ENSP00000410626:S101Y;ENSP00000431870:S97Y	ENSP00000264555:S101Y	S	+	2	0	PHRF1	577346	1.000000	0.71417	0.632000	0.29296	0.037000	0.13140	7.448000	0.80631	2.208000	0.71279	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	1	0	1	87	257	0	64	1	1	20	71	0	64	2		0	0	0	0	0	2	1	1	87	246	0	64	2								-5.262963	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52E8	390079	broad.mit.edu	37	11	5878211	5878211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5878211T>C	ENST00000537935.1	-	1	753	c.722A>G	c.(721-723)aAa>aGa	p.K241R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8			20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)			GTTGAGAGCTTTGAGTCGAGC	0.413000																								0							SO:0001583	missense			ENST00000537935.1	1	1	hg19	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116343	0.56505	.	.	ENSG00000183269	ENST00000537935	T	0.00360	7.86	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.121577	0.39407	N	0.001364	T	0.00552	0.0018	M	0.77313	2.365	0.34493	D	0.705219	P	0.44877	0.845	P	0.50825	0.651	T	0.65179	-0.6231	10	0.62326	D	0.03	.	12.8816	0.58020	0.0:0.0:0.0:1.0	.	241	Q6IFG1	O52E8_HUMAN	R	241	ENSP00000444054:K241R	ENSP00000444054:K241R	K	-	2	0	OR52E8	5834787	1.000000	0.71417	0.973000	0.42090	0.802000	0.45316	7.539000	0.82063	1.985000	0.57927	0.448000	0.29417	AAA		TCGA-IB-7651-01A-11D-2154-08	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	1	0	1	59	289	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	56	275	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM111A	63901	broad.mit.edu	37	11	58920006	58920006	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920006A>G	ENST00000528737.1	+	5	3683	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A|FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A			22		all_epithelial(135;0.139)			GAAAAGAAACACCTGTGTGTT	0.378000																								0							SO:0001583	missense			ENST00000528737.1	1	1	hg19	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	9.447	1.089693	0.20390	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.65	-5.73	0.02398	.	1.275090	0.04949	N	0.459945	T	0.27933	0.0688	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.16424	-1.0403	10	0.16896	T	0.51	-9.762	5.2132	0.15329	0.2643:0.1307:0.4914:0.1137	.	289	Q96PZ2	F111A_HUMAN	A	289	ENSP00000434435:T289A;ENSP00000406683:T289A;ENSP00000355264:T289A;ENSP00000433154:T289A;ENSP00000431631:T289A	ENSP00000355264:T289A	T	+	1	0	FAM111A	58676582	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.516000	0.02250	-1.056000	0.03205	0.528000	0.53228	ACC		TCGA-IB-7651-01A-11D-2154-08	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	1	0	1	52	266	0	77	1	9.999465e-01	21	54	0	77	2		0	0	0	0	0	2	1	1	51	262	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM111A	63901	broad.mit.edu	37	11	58920677	58920677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920677C>T	ENST00000528737.1	+	5	4354	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000420244.1_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A			22		all_epithelial(135;0.139)			CAGAGTATGTCCATATGTATA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000528737.1	1	1	hg19	CCDS7973.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	0	0	1	108	471	0	132	1	9.984231e-01	9	35	0	132	2		0	0	0	0	0	2	1	1	107	463	0	132	2								-20.000000	1	1	121410	2	40	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DTX4	23220	broad.mit.edu	37	11	58949753	58949753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58949753G>A	ENST00000227451.3	+	2	857	c.753G>A	c.(751-753)aaG>aaA	p.K251K	DTX4_ENST00000532982.1_Silent_p.K145K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase			20		all_epithelial(135;0.125)			GCCCACTGAAGACCGCCCCAT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000227451.3	1	1	hg19	CCDS44612.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	1	0	1	32	100	0	25	1	9.999098e-01	19	31	0	25	2		0	0	0	0	0	2	1	1	30	96	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPEG1	219972	broad.mit.edu	37	11	58978424	58978424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58978424G>A	ENST00000361050.3	-	1	2000	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1			39		all_epithelial(135;0.125)			ATGGCCCTCCGCAGCTCTATC	0.552000																								0							SO:0001583	missense			ENST00000361050.3	1	1	hg19	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484135	0.26598	2.54E-4	0.0	ENSG00000197629	ENST00000361050	T	0.24350	1.86	5.69	5.69	0.88448	.	0.466187	0.23481	N	0.047712	T	0.35219	0.0924	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.38112	-0.9676	10	0.66056	D	0.02	-13.3692	10.7561	0.46237	0.086:0.0:0.914:0.0	.	639	Q2M385	MPEG1_HUMAN	W	639	ENSP00000354335:R639W	ENSP00000354335:R639W	R	-	1	2	MPEG1	58735000	0.007000	0.16637	0.940000	0.37924	0.049000	0.14656	1.633000	0.37113	2.682000	0.91365	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	1	0	1	158	596	0	150	1	1	2	105	0	150	2		0	0	0	0	0	2	1	1	156	590	0	149	2								-20.000000	1	1	120880	4	39	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPEG1	219972	broad.mit.edu	37	11	58980176	58980176	+	Missense_Mutation	SNP	G	G	A	rs149377168	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58980176G>A	ENST00000361050.3	-	1	248	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1			39		all_epithelial(135;0.125)			TCCACATTCCGCAGATTGTCC	0.488000																								0							SO:0001583	missense			ENST00000361050.3	1	1	hg19	CCDS41650.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.79	3.221692	0.58560	2.48E-4	9.58E-4	ENSG00000197629	ENST00000361050;ENST00000545098	T	0.30182	1.54	5.41	2.07	0.26955	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.81497	2.545	0.41927	D	0.990546	D	0.89917	1.0	D	0.81914	0.995	T	0.61257	-0.7099	10	0.87932	D	0	-28.9473	12.4979	0.55940	0.0:0.0:0.5087:0.4913	.	55	Q2M385	MPEG1_HUMAN	W	55	ENSP00000354335:R55W	ENSP00000354335:R55W	R	-	1	2	MPEG1	58736752	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.800000	0.38833	0.603000	0.29913	0.644000	0.83932	CGG		TCGA-IB-7651-01A-11D-2154-08	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	0	0	1	179	703	0	195	0	1	0	98	0	195	2		0	0	0	0	0	2	1	1	174	684	0	195	2								-3.364966	1	1	120934	51	53	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5A2	219981	broad.mit.edu	37	11	59189727	59189727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59189727C>T	ENST00000302040.4	-	1	722	c.700G>A	c.(700-702)Ggt>Agt	p.G234S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2			21					TTTGTCCTACCTGTAGCTGAG	0.478000																								0							SO:0001583	missense			ENST00000302040.4	1	1	hg19	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433395	0.96150	.	.	ENSG00000172324	ENST00000302040	T	0.00293	8.26	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35772	U	0.002992	T	0.00784	0.0026	M	0.80332	2.49	0.34768	D	0.733422	D	0.89917	1.0	D	0.97110	1.0	T	0.66555	-0.5894	10	0.72032	D	0.01	.	17.3816	0.87406	0.0:1.0:0.0:0.0	.	234	Q8NGI9	OR5A2_HUMAN	S	234	ENSP00000303834:G234S	ENSP00000303834:G234S	G	-	1	0	OR5A2	58946303	0.536000	0.26378	0.576000	0.28549	0.753000	0.42808	2.016000	0.40971	2.787000	0.95880	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	1	0	1	39	185	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	38	182	0	50	2								-3.162104	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OR5A1	219982	broad.mit.edu	37	11	59211369	59211369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211369C>T	ENST00000302030.2	+	1	753	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1			28					GCCTGCAACACGTGTGCCTCG	0.547000																								0							SO:0001583	missense			ENST00000302030.2	1	1	hg19	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473797	0.43942	.	.	ENSG00000172320	ENST00000302030	T	0.42513	0.97	5.98	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.76314	0.3970	H	0.96662	3.86	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.85296	0.1070	10	0.87932	D	0	-29.9675	15.5041	0.75725	0.1393:0.8607:0.0:0.0	.	243	Q8NGJ0	OR5A1_HUMAN	M	243	ENSP00000303096:T243M	ENSP00000303096:T243M	T	+	2	0	OR5A1	58967945	1.000000	0.71417	0.160000	0.22671	0.002000	0.02628	4.858000	0.62947	1.532000	0.49169	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	1	0	1	185	784	0	170		0	0	0	0	170	2		0	0	0	0	0	2	1	1	182	766	0	168	2								-20.000000	1	1	121412	1	38	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4D6	219983	broad.mit.edu	37	11	59225177	59225177	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59225177T>A	ENST00000300127.2	+	1	767	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6			34					TGGTGGTGACTCTTCACTTCG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000300127.2	1	1	hg19	CCDS31562.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	0	0	0	16	445	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	9.999215e-01	15	435	0	98	2								-15.459810	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.420000	0.240000	1.000000	0.410000	0.467124	0.420000	0	3.200000e-01	5.600000e-01
OR4D11	219986	broad.mit.edu	37	11	59271327	59271327	+	Silent	SNP	C	C	A	rs141756362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59271327C>A	ENST00000313253.1	+	1	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11			29					AGACCATATCCTATACAAGCT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000313253.1	1	1	hg19	CCDS31563.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	1	0	1	198	801	0	166		0	0	0	0	166	2		0	0	0	0	0	2	1	1	196	783	0	165	2								-3.583115	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PATL1	219988	broad.mit.edu	37	11	59425059	59425059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59425059C>A	ENST00000300146.9	-	5	649	c.565G>T	c.(565-567)Gct>Tct	p.A189S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)			11					ATGGGGACAGCTCTAACAGGA	0.532000																								0							SO:0001583	missense			ENST00000300146.9	1	1	hg19	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303311	0.81136	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.48836	0.8	5.64	5.64	0.86602	.	0.175531	0.48286	D	0.000184	T	0.60521	0.2275	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.65815	0.994;0.995	D;D	0.67103	0.915;0.949	T	0.50030	-0.8875	10	0.13470	T	0.59	-13.813	19.3278	0.94270	0.0:1.0:0.0:0.0	.	189;189	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	S	189	ENSP00000300146:A189S	ENSP00000300146:A189S	A	-	1	0	PATL1	59181635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.889000	0.63171	2.653000	0.90120	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	1	0	0	18	408	0	100	1	9.711010e-01	12	122	0	100	2		0	0	0	0	0	2	1	9.999798e-01	18	400	0	99	2								-4.299999	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.510000	0.310000	1.000000	0.490000	0.550899	0.510000	0	4.000000e-01	6.700000e-01
STX3	6809	broad.mit.edu	37	11	59558002	59558002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59558002G>A	ENST00000337979.4	+	5	847	c.300G>A	c.(298-300)aaG>aaA	p.K100K	STX3_ENST00000437946.2_Silent_p.K3K|STX3_ENST00000529177.1_Silent_p.K100K|STX3_ENST00000535361.1_Silent_p.K100K|STX3_ENST00000300150.7_Silent_p.K69K	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3			13					GCATGGAGAAGCATATTGAAG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000337979.4	0	1	hg19	CCDS7975.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	0	0	0	5	200	0	52	1	7.729209e-01	5	107	0	52	2		0	0	0	0	0	2	1	9.358716e-01	5	197	0	51	2								-6.568459	1	0	121412	1	34	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.320000	0.120000	1.000000	0.280000	0.378238	0.320000	0	2.000000e-01	5.100000e-01
STX3	6809	broad.mit.edu	37	11	59560891	59560891	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560891G>A	ENST00000337979.4	+	8	1126	c.579G>A	c.(577-579)gaG>gaA	p.E193E	STX3_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000529177.1_Silent_p.E193E|STX3_ENST00000535361.1_Silent_p.E193E|STX3_ENST00000300150.7_Silent_p.E162E	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3			13					CCCTCAGTGAGATTGAGGGAC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000337979.4	1	1	hg19	CCDS7975.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	1	0	1	26	241	0	63	1	9.939626e-01	14	63	0	63	2		0	0	0	0	0	2	1	9.999999e-01	26	238	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.780000	1.000000	1.000000	0.978426	0.990000	1	9.600000e-01	1
STX3	6809	broad.mit.edu	37	11	59560935	59560935	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560935T>C	ENST00000337979.4	+	8	1170	c.623T>C	c.(622-624)aTc>aCc	p.I208T	STX3_ENST00000437946.2_Missense_Mutation_p.I111T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000535361.1_Missense_Mutation_p.I208T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3			13					GAGAGCAGCATCAAGGAGCTT	0.527000																								0							SO:0001583	missense			ENST00000337979.4	1	1	hg19	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587465	0.86851	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.1	5.1	0.69264	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.096090	0.64402	D	0.000001	T	0.73575	0.3604	H	0.97829	4.085	0.58432	D	0.999991	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.87578	0.998;0.994;0.989;0.994	D	0.83883	0.0280	10	0.87932	D	0	-14.0091	13.7201	0.62720	0.0:0.0:0.0:1.0	.	111;208;208;208	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	T	177;208;208;111;208;160	ENSP00000300150:I177T;ENSP00000338562:I208T;ENSP00000441649:I208T;ENSP00000393536:I111T;ENSP00000433248:I208T;ENSP00000431386:I160T	ENSP00000300150:I177T	I	+	2	0	STX3	59317511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.537000	0.82033	1.909000	0.55274	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	1	0	1	43	228	0	52	1	9.999996e-01	41	82	0	52	2		0	0	0	0	0	2	1	1	42	220	0	51	2								-20.000000	1	0	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TCN1	6947	broad.mit.edu	37	11	59620480	59620480	+	Missense_Mutation	SNP	C	C	T	rs17851654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59620480C>T	ENST00000257264.3	-	9	1374	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)			29		all_epithelial(135;0.198)		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAAGTTTTCTCCATTGCGG	0.413000																								0							SO:0001583	missense			ENST00000257264.3	1	1	hg19	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319130	0.60524	.	.	ENSG00000134827	ENST00000257264	T	0.30714	1.52	5.05	5.05	0.67936	.	0.192482	0.33290	N	0.005077	T	0.47581	0.1453	M	0.82193	2.58	0.25364	N	0.988751	D	0.54047	0.964	P	0.50314	0.637	T	0.51988	-0.8635	10	0.66056	D	0.02	7.206	13.7737	0.63039	0.0:1.0:0.0:0.0	.	424	P20061	TCO1_HUMAN	K	424	ENSP00000257264:E424K	ENSP00000257264:E424K	E	-	1	0	TCN1	59377056	0.665000	0.27466	0.932000	0.37286	0.107000	0.19398	2.374000	0.44274	2.620000	0.88729	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	1	0	1	138	633	0	178	1	1	318	315	0	178	2		0	0	0	0	0	2	1	1	137	619	0	178	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCN1	6947	broad.mit.edu	37	11	59631526	59631526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59631526G>T	ENST00000257264.3	-	2	217	c.113C>A	c.(112-114)cCt>cAt	p.P38H	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)			29		all_epithelial(135;0.198)		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCAACAGAGGTTTTAGGCG	0.428000																								0							SO:0001583	missense			ENST00000257264.3	1	1	hg19	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899915	0.52227	.	.	ENSG00000134827	ENST00000257264	T	0.34667	1.35	4.54	3.61	0.41365	.	0.602001	0.15518	N	0.258174	T	0.32164	0.0820	M	0.63428	1.95	0.22710	N	0.998822	P	0.41159	0.74	B	0.37346	0.247	T	0.11012	-1.0605	10	0.17832	T	0.49	-2.6499	10.4549	0.44544	0.0:0.0:0.8044:0.1956	.	38	P20061	TCO1_HUMAN	H	38	ENSP00000257264:P38H	ENSP00000257264:P38H	P	-	2	0	TCN1	59388102	0.862000	0.29867	0.189000	0.23252	0.005000	0.04900	0.571000	0.23669	1.193000	0.43086	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	1	0	1	57	671	0	147	1	1	79	305	0	147	2		0	0	0	0	0	2	1	1	56	658	0	146	2								-12.649180	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.930000	0.710000	1.000000	1.000000	0.918350	0.930000	1	8.100000e-01	1
MS4A2	2206	broad.mit.edu	37	11	59857283	59857283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857283G>A	ENST00000278888.3	+	2	277	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2			17		all_epithelial(135;0.245)		Omalizumab(DB00043)	AAAAGAGCAGGAGTTCCTGGG	0.463000																								0							SO:0001583	missense			ENST00000278888.3	1	1	hg19	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761028	0.49468	.	.	ENSG00000149534	ENST00000278888	T	0.14266	2.52	4.41	2.47	0.30058	.	0.417922	0.25402	N	0.030940	T	0.13841	0.0335	L	0.32530	0.975	0.34137	D	0.665927	P	0.48834	0.916	P	0.48166	0.569	T	0.22243	-1.0222	9	.	.	.	-17.7271	10.8682	0.46869	0.0:0.3632:0.6368:0.0	.	59	Q01362	FCERB_HUMAN	K	59	ENSP00000278888:E59K	.	E	+	1	0	MS4A2	59613859	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.379000	0.44318	0.748000	0.32831	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1	1	0	1	67	212	0	38	0	5.328744e-01	0	7	0	38	2		0	0	0	0	0	2	1	1	66	207	0	38	2								-4.662553	1	0	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MS4A2	2206	broad.mit.edu	37	11	59857875	59857875	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857875A>G	ENST00000278888.3	+	3	355	c.253A>G	c.(253-255)Att>Gtt	p.I85V		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2			17		all_epithelial(135;0.245)		Omalizumab(DB00043)	TGTACTTGATATTTCACACAT	0.323000																								0							SO:0001583	missense			ENST00000278888.3	1	1	hg19	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	A	0.282	-0.985742	0.02180	.	.	ENSG00000149534	ENST00000278888	T	0.02177	4.41	4.68	-7.35	0.01422	.	2.621580	0.01288	N	0.009922	T	0.01387	0.0045	N	0.16656	0.425	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.15870	0.014;0.014	T	0.46205	-0.9208	10	0.16420	T	0.52	2.0808	2.9836	0.05961	0.2451:0.2431:0.3929:0.1188	.	15;85	Q14298;Q01362	.;FCERB_HUMAN	V	85	ENSP00000278888:I85V	ENSP00000278888:I85V	I	+	1	0	MS4A2	59614451	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.683000	0.05179	-1.536000	0.01738	-0.297000	0.09499	ATT		TCGA-IB-7651-01A-11D-2154-08	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1	1	0	1	127	566	0	127	0	3.791353e-01	0	7	0	127	2		0	0	0	0	0	2	1	1	125	559	0	126	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MS4A6A	64231	broad.mit.edu	37	11	59949188	59949188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59949188G>A	ENST00000530839.1	-	3	505	c.13C>T	c.(13-15)Cct>Tct	p.P5S	MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000528851.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A			22					TTGGGAACAGGTTGTGATGTC	0.443000																								0							SO:0001583	missense			ENST00000530839.1	1	1	hg19	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295355	0.40594	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023;ENST00000532169;ENST00000534596;ENST00000531531;ENST00000533409	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	3.75;3.76;3.08;3.75;3.68;2.85;3.69;1.79;2.19;2.1;1.63;-1.39	4.83	0.376	0.16193	.	1.549850	0.03654	N	0.241465	D	0.86456	0.5937	M	0.61703	1.905	0.09310	N	1	B;D;B;D;B	0.71674	0.01;0.998;0.037;0.997;0.018	B;D;B;P;B	0.66979	0.015;0.948;0.025;0.888;0.028	T	0.67337	-0.5696	9	.	.	.	.	5.6964	0.17857	0.19:0.4038:0.4062:0.0	.	5;33;33;5;5	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	S	5;5;5;5;33;5;33;5;5;33;33;5	ENSP00000315878:P5S;ENSP00000431901:P5S;ENSP00000392921:P5S;ENSP00000436979:P5S;ENSP00000435844:P33S;ENSP00000392770:P5S;ENSP00000403212:P33S;ENSP00000436172:P5S;ENSP00000431266:P5S;ENSP00000433436:P33S;ENSP00000433012:P33S;ENSP00000437152:P5S	.	P	-	1	0	MS4A6A	59705764	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.094000	0.12374	-0.136000	0.14681	CCT		TCGA-IB-7651-01A-11D-2154-08	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1	1	0	1	133	675	0	155	0	1	0	667	0	155	2		0	0	0	0	0	2	1	1	132	653	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR52L1	338751	broad.mit.edu	37	11	6007343	6007343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6007343C>T	ENST00000332249.4	-	1	872	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1			30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)			GGAGAAAATTCCAGGGACATA	0.512000													Melanoma(121;653 1666 10547 22796 51255)											0							SO:0001583	missense			ENST00000332249.4	1	1	hg19	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.832108	0.32421	.	.	ENSG00000183313	ENST00000332249	T	0.37058	1.22	4.1	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000651	T	0.55784	0.1942	M	0.71920	2.185	0.27952	N	0.937101	D	0.89917	1.0	D	0.97110	1.0	T	0.48736	-0.9009	10	0.87932	D	0	.	11.3353	0.49500	0.0:0.6675:0.3325:0.0	.	273	Q8NGH7	O52L1_HUMAN	E	273	ENSP00000330338:G273E	ENSP00000330338:G273E	G	-	2	0	OR52L1	5963919	0.000000	0.05858	1.000000	0.80357	0.310000	0.27922	-1.994000	0.01474	1.987000	0.57996	0.313000	0.20887	GGA		TCGA-IB-7651-01A-11D-2154-08	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	1	0	1	46	250	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	46	242	0	63	2								-3.331083	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	p.E89K(1)		13					TAAGTTGGACGAAAAGGATAT	0.453000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000300182.4	1	1	hg19	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.856475	0.00558	.	.	ENSG00000166926	ENST00000300182	T	0.08634	3.07	2.03	-1.02	0.10135	.	1.042350	0.07546	N	0.914624	T	0.01489	0.0048	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	10	0.02654	T	1	.	1.9174	0.03300	0.5553:0.0:0.1792:0.2655	.	89	Q96DS6	M4A6E_HUMAN	K	89	ENSP00000300182:E89K	ENSP00000300182:E89K	E	+	1	0	MS4A6E	59861907	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.638000	0.05452	-0.445000	0.07159	-1.373000	0.01185	GAA		TCGA-IB-7651-01A-11D-2154-08	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1	1	0	1	113	515	0	131	0	3.297864e-02	0	2	0	131	2		0	0	0	0	0	2	1	1	112	507	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MS4A7	58475	broad.mit.edu	37	11	60150639	60150639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60150639G>A	ENST00000300184.3	+	2	221	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	MS4A7_ENST00000358246.1_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A7_ENST00000530234.2_Missense_Mutation_p.G9R	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7			20					CCAAACCATGGGGGTTTCTCA	0.458000																								0							SO:0001583	missense			ENST00000300184.3	1	1	hg19	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	7.112	0.576130	0.13623	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.53857	3.01;2.23;2.23;2.17;2.49;0.6	3.8	-2.88	0.05682	.	3.885760	0.00659	N	0.000595	T	0.28001	0.0690	N	0.10809	0.05	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.04165	-1.0972	10	0.23891	T	0.37	-24.2312	1.0142	0.01504	0.4079:0.1555:0.2782:0.1584	.	9;9;9	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	R	9	ENSP00000300184:G9R;ENSP00000350983:G9R;ENSP00000434637:G9R;ENSP00000433861:G9R;ENSP00000434819:G9R;ENSP00000433184:G9R	ENSP00000300184:G9R	G	+	1	0	MS4A7	59907215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.629000	0.05575	-0.137000	0.14449	GGG		TCGA-IB-7651-01A-11D-2154-08	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1	1	0	1	80	324	0	82	0	1	0	235	0	82	2		0	0	0	0	0	2	1	1	79	319	0	82	2								-3.091060	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MS4A14	84689	broad.mit.edu	37	11	60184368	60184368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60184368G>A	ENST00000300187.6	+	5	2204	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N|MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14			62					GTTATGCCAAGATTCAGAATC	0.473000																								0							SO:0001583	missense			ENST00000300187.6	1	1	hg19	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518792	0.27211	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.29655	1.56;2.82;1.57;3.18	3.84	0.661	0.17874	.	11.904300	0.00166	N	0.000000	T	0.22282	0.0537	L	0.27053	0.805	0.09310	N	0.999996	P;P	0.40107	0.703;0.578	B;B	0.36959	0.237;0.12	T	0.13872	-1.0493	10	0.46703	T	0.11	-3.5619	4.6492	0.12587	0.2117:0.0:0.6156:0.1727	.	626;643	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	N	531;643;626;676	ENSP00000437222:D531N;ENSP00000300187:D643N;ENSP00000378453:D626N;ENSP00000433761:D676N	ENSP00000300187:D643N	D	+	1	0	MS4A14	59940944	0.003000	0.15002	0.001000	0.08648	0.012000	0.07955	0.371000	0.20450	0.025000	0.15241	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2	1	0	1	70	293	0	67	1	8.402337e-01	2	14	0	67	2		0	0	0	0	0	2	1	1	69	287	0	67	2								-3.530739	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MS4A1	931	broad.mit.edu	37	11	60229917	60229917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60229917C>T	ENST00000534668.1	+	2	359	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1			24				Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTGCTATGCAATCTGGTCC	0.448000																								0							SO:0001587	stop_gained			ENST00000534668.1	0	1	hg19	CCDS31570.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.07	3.541864	0.65198	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000533306;ENST00000389939	.	.	.	5.21	1.14	0.20703	.	0.693696	0.12943	N	0.426474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.1374	3.7868	0.08703	0.1675:0.5457:0.0:0.2868	.	.	.	.	X	24;24;24;24;27;24	.	ENSP00000314620:Q24X	Q	+	1	0	MS4A1	59986493	0.054000	0.20591	0.000000	0.03702	0.006000	0.05464	0.508000	0.22692	-0.044000	0.13491	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1	1	0	0	15	325	0	75	0	4.087013e-02	0	7	0	75	2		0	0	0	0	0	2	1	9.998531e-01	14	317	0	75	2								-4.486348	1	1	121412	4	35	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.540000	0.310000	1.000000	0.510000	0.575572	0.540000	0	4.100000e-01	7.200000e-01
MS4A1	931	broad.mit.edu	37	11	60234492	60234492	+	Missense_Mutation	SNP	G	G	A	rs148035107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60234492G>A	ENST00000534668.1	+	6	923	c.634G>A	c.(634-636)Gtt>Att	p.V212I	MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1			24				Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	AGCTGGCATCGTTGAGAATGA	0.418000																								0							SO:0001583	missense			ENST00000534668.1	1	1	hg19	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706724	0.30232	0.001135	0.0	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.27256	4.33;1.68;4.33;4.33	5.3	3.04	0.35103	.	0.557191	0.17623	N	0.167661	T	0.24699	0.0599	M	0.68317	2.08	0.09310	N	1	B;D;D	0.57571	0.055;0.98;0.98	B;B;B	0.43754	0.011;0.43;0.43	T	0.11792	-1.0573	10	0.27082	T	0.32	-17.187	5.8159	0.18492	0.2652:0.0:0.7348:0.0	.	45;199;212	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	I	212;199;212;45;212	ENSP00000314620:V212I;ENSP00000433519:V199I;ENSP00000433277:V212I;ENSP00000374589:V212I	ENSP00000314620:V212I	V	+	1	0	MS4A1	59991068	0.696000	0.27757	0.172000	0.22920	0.071000	0.16799	2.818000	0.48041	1.387000	0.46486	-0.136000	0.14681	GTT		TCGA-IB-7651-01A-11D-2154-08	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1	0	0	1	95	395	0	96	0	4.811798e-01	0	8	0	96	2		0	0	0	0	0	2	1	1	95	387	0	95	2								-20.000000	1	1	121412	11	45	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MS4A12	54860	broad.mit.edu	37	11	60271185	60271185	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60271185C>T	ENST00000016913.4	+	5	540	c.483C>T	c.(481-483)agC>agT	p.S161S	MS4A12_ENST00000537076.1_Silent_p.S115S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12			17					TGAAAGGCAGCCTGGGAATGA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000016913.4	1	1	hg19	CCDS7988.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1	1	0	1	65	292	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	65	285	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC86	79080	broad.mit.edu	37	11	60617793	60617793	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60617793A>G	ENST00000227520.5	+	4	1132	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V	CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86			10					GGCAGCCAAGATCTGAGCTCA	0.637000																								0							SO:0001583	missense			ENST00000227520.5	1	1	hg19	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	A	6.718	0.501202	0.12822	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T	0.40225	1.04	4.66	-0.718	0.11205	.	0.837667	0.09890	N	0.742530	T	0.20455	0.0492	N	0.16307	0.4	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.30119	-0.9989	10	0.02654	T	1	.	8.2856	0.31926	0.4016:0.0:0.5984:0.0	.	360	Q9H6F5	CCD86_HUMAN	V	360;104	ENSP00000227520:I360V	ENSP00000227520:I360V	I	+	1	0	CCDC86	60374369	0.090000	0.21635	0.653000	0.29593	0.649000	0.38597	0.229000	0.17833	-0.207000	0.10187	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	0	0	0	11	367	0	64	1	9.633866e-01	6	184	0	64	2		0	0	0	0	0	2	1	9.981589e-01	11	358	0	61	2								-11.335110	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.360000	0.180000	1.000000	0.330000	0.409980	0.360000	0	2.600000e-01	5.100000e-01
TMEM109	79073	broad.mit.edu	37	11	60689496	60689496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60689496C>T	ENST00000227525.3	+	4	994	c.591C>T	c.(589-591)gcC>gcT	p.A197A	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000453848.2_5'Flank|TMEM109_ENST00000536171.1_Silent_p.A197A|TMEM132A_ENST00000005286.4_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109			8					TCCTCTACGCCCTGCTGAGCC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000227525.3	1	1	hg19	CCDS7996.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	1	0	1	65	340	0	67	1	1	12	235	0	67	2		0	0	0	0	0	2	1	1	63	333	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM132A	54972	broad.mit.edu	37	11	60696112	60696112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696112C>T	ENST00000453848.2	+	4	704	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM132A_ENST00000005286.4_Silent_p.G182G			Q24JP5	T132A_HUMAN	transmembrane protein 132A			32					CATCCCTGGGCGCCTGCGTGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000453848.2	1	1	hg19	CCDS44618.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	1	0	0	40	484	0	105	1	9.987818e-01	5	118	0	105	2		0	0	0	0	0	2	1	1	40	474	0	102	2								-3.318793	1	0	120832	4	36	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.910000	0.660000	1.000000	1.000000	0.898424	0.910000	1	7.700000e-01	1
TMEM132A	54972	broad.mit.edu	37	11	60696127	60696127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696127G>T	ENST00000453848.2	+	4	719	c.561G>T	c.(559-561)gaG>gaT	p.E187D	TMEM132A_ENST00000005286.4_Missense_Mutation_p.E187D			Q24JP5	T132A_HUMAN	transmembrane protein 132A			32					GCGTGGTGGAGCTGGAGCTTC	0.652000																								0							SO:0001583	missense			ENST00000453848.2	1	1	hg19	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628841	0.67015	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.08282	3.11;3.11	4.32	3.39	0.38822	.	0.069858	0.52532	D	0.000062	T	0.19446	0.0467	L	0.60455	1.87	0.35948	D	0.833686	D;P;D	0.69078	0.997;0.884;0.994	D;B;P	0.66196	0.942;0.38;0.892	T	0.08513	-1.0718	10	0.87932	D	0	.	7.482	0.27411	0.2093:0.0:0.7907:0.0	.	176;187;187	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	D	187	ENSP00000405823:E187D;ENSP00000005286:E187D	ENSP00000005286:E187D	E	+	3	2	TMEM132A	60452703	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.464000	0.45067	0.923000	0.37045	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	1	0	1	80	426	0	95	1	9.999973e-01	5	94	0	95	2		0	0	0	0	0	2	1	1	81	419	0	95	2								-20.000000	1	0	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM132A	54972	broad.mit.edu	37	11	60697983	60697983	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60697983A>G	ENST00000453848.2	+	5	1026	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	TMEM132A_ENST00000005286.4_Splice_Site_p.I290V			Q24JP5	T132A_HUMAN	transmembrane protein 132A			32					CTTCCCCAGGATCAAGGTGAA	0.592000																								0							SO:0001630	splice_region_variant			ENST00000453848.2	1	0	hg19	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	A	4.923	0.171542	0.09391	.	.	ENSG00000006118	ENST00000544065;ENST00000453848;ENST00000005286	T;T;T	0.11821	2.74;2.99;2.99	5.4	5.4	0.78164	.	0.094640	0.46145	D	0.000307	T	0.11324	0.0276	N	0.24115	0.695	0.36711	D	0.88064	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.07520	-1.0768	10	0.87932	D	0	.	13.9837	0.64321	1.0:0.0:0.0:0.0	.	279;290;290	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	V	28;290;290	ENSP00000442754:I28V;ENSP00000405823:I290V;ENSP00000005286:I290V	ENSP00000005286:I290V	I	+	1	0	TMEM132A	60454559	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.396000	0.44468	2.184000	0.69523	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	1	0	0	114	1337	0	255	1	9.995714e-01	8	121	0	255	2		0	0	0	0	0	2	1	1	111	1316	0	252	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.930000	0.770000	1.000000	1.000000	0.928434	0.930000	1	8.400000e-01	1
SLC15A3	51296	broad.mit.edu	37	11	60705372	60705372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60705372C>T	ENST00000227880.3	-	7	1794	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3			17					AGCCAGCCCCCGGGCAAGGAC	0.637000																								0							SO:0001583	missense			ENST00000227880.3	1	1	hg19	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	C	3.690	-0.063654	0.07273	.	.	ENSG00000110446	ENST00000536784;ENST00000227880	T	0.59364	0.27	5.08	-0.155	0.13395	Major facilitator superfamily domain, general substrate transporter (1);	0.602516	0.16041	N	0.232412	T	0.44498	0.1296	M	0.65320	2	0.09310	N	1	B	0.23490	0.086	B	0.15484	0.013	T	0.31280	-0.9949	10	0.36615	T	0.2	-9.8456	2.0854	0.03645	0.1237:0.4217:0.2409:0.2136	.	521	Q8IY34	S15A3_HUMAN	R	29;521	ENSP00000227880:G521R	ENSP00000227880:G521R	G	-	1	0	SLC15A3	60461948	0.000000	0.05858	0.002000	0.10522	0.239000	0.25481	-0.135000	0.10420	-0.108000	0.12066	-0.137000	0.14449	GGG		TCGA-IB-7651-01A-11D-2154-08	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	1	0	1	37	161	0	43	1	1	53	583	0	43	2		0	0	0	0	0	2	1	1	36	158	0	42	2								-2.896832	1	1	121410	6	38	1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD5	921	broad.mit.edu	37	11	60886791	60886791	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60886791T>C	ENST00000347785.3	+	5	715	c.549T>C	c.(547-549)ggT>ggC	p.G183G		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule			19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)			GCCTGGGGGGTACCATCAGCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000347785.3	1	1	hg19	CCDS8000.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	1	0	1	82	377	1	83	0	8.725741e-01	0	19	1	83	2		0	0	0	0	0	2	1	1	80	371	1	80	19								-2.640624	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD5	921	broad.mit.edu	37	11	60892563	60892563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60892563T>C	ENST00000347785.3	+	9	1505	c.1339T>C	c.(1339-1341)Tcc>Ccc	p.S447P		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule			19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)			CCCCACAGCCTCCCACGTGGA	0.592000																								0							SO:0001583	missense			ENST00000347785.3	1	1	hg19	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744193	0.49151	.	.	ENSG00000110448	ENST00000347785	T	0.31769	1.48	4.99	2.52	0.30459	.	0.254323	0.27901	N	0.017394	T	0.29355	0.0731	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	P	0.50440	0.641	T	0.09707	-1.0662	10	0.72032	D	0.01	-21.5538	9.1883	0.37184	0.0:0.0:0.358:0.642	.	447	P06127	CD5_HUMAN	P	447	ENSP00000342681:S447P	ENSP00000342681:S447P	S	+	1	0	CD5	60649139	0.000000	0.05858	0.014000	0.15608	0.694000	0.40290	0.316000	0.19469	0.280000	0.22209	0.379000	0.24179	TCC		TCGA-IB-7651-01A-11D-2154-08	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	1	0	1	49	227	0	63	0	9.959722e-01	0	42	0	63	2		0	0	0	0	0	2	1	1	48	225	0	62	2								-3.312640	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS37C	55048	broad.mit.edu	37	11	60899816	60899816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60899816C>T	ENST00000301765.5	-	5	776	c.544G>A	c.(544-546)Gtc>Atc	p.V182I		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)			7					CCCTGGGGGACTGGGCGCACC	0.672000																								0							SO:0001583	missense			ENST00000301765.5	0	1	hg19	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165403	0.06461	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.42131	0.98	4.71	1.78	0.24846	.	1.707430	0.03070	N	0.156996	T	0.29588	0.0738	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.15752	-1.0426	10	0.20519	T	0.43	2.7763	8.3183	0.32113	0.0:0.754:0.0:0.246	.	182	A5D8V6	VP37C_HUMAN	I	182	ENSP00000301765:V182I	ENSP00000301765:V182I	V	-	1	0	VPS37C	60656392	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.810000	0.04505	0.979000	0.38497	0.462000	0.41574	GTC		TCGA-IB-7651-01A-11D-2154-08	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	1	0	0	12	71	0	17	1	9.988977e-01	22	54	0	17	2		0	0	0	0	0	2	1	9.993081e-01	12	70	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.000915	0	0.170000	2.060000	1.756059e-01	0.990000	0.930000	1.000000	1.000000	0.995569	0.990000	1	9.900000e-01	1
VWCE	220001	broad.mit.edu	37	11	61026582	61026582	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61026582C>A	ENST00000335613.5	-	20	2819	c.2433G>T	c.(2431-2433)caG>caT	p.Q811H	VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains			37					TAGGTAAAGTCTGTGTTTTCA	0.582000																								0							SO:0001583	missense			ENST00000335613.5	1	1	hg19	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588329	0.46110	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70631	-0.5;3.36	4.73	1.69	0.24217	.	0.405020	0.18355	N	0.143759	T	0.61602	0.2360	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.56147	-0.8027	10	0.87932	D	0	.	6.9739	0.24664	0.0:0.57:0.3356:0.0944	.	811	Q96DN2	VWCE_HUMAN	H	811;276	ENSP00000334186:Q811H;ENSP00000442570:Q276H	ENSP00000334186:Q811H	Q	-	3	2	VWCE	60783158	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.696000	0.05104	0.132000	0.18615	-0.140000	0.14226	CAG		TCGA-IB-7651-01A-11D-2154-08	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	1	0	0	20	187	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	9.999963e-01	20	186	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.730000	1.000000	1.000000	0.968787	0.990000	1	9.200000e-01	1
VWCE	220001	broad.mit.edu	37	11	61042028	61042028	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61042028G>A	ENST00000335613.5	-	12	1910	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains			37					CCCCGTCTGCGTACCACCGGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000335613.5	1	1	hg19	CCDS8002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	1	0	1	68	302	0	76	0	3.480931e-02	1	1	0	76	2		0	0	0	0	0	2	1	1	67	296	0	75	2								-20.000000	1	1	121412	2	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VWCE	220001	broad.mit.edu	37	11	61048181	61048181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61048181C>A	ENST00000335613.5	-	9	1625	c.1239G>T	c.(1237-1239)aaG>aaT	p.K413N		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains			37					CACAGGTCACCTTCCCGTCCT	0.602000																								0							SO:0001583	missense			ENST00000335613.5	1	1	hg19	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776415	0.16051	.	.	ENSG00000167992	ENST00000335613	T	0.73789	-0.78	5.65	0.467	0.16721	von Willebrand factor, type C (4);	0.478171	0.19258	N	0.118755	T	0.41534	0.1163	N	0.03268	-0.37	0.53005	D	0.999965	B	0.09022	0.002	B	0.09377	0.004	T	0.04078	-1.0979	10	0.19590	T	0.45	.	1.8569	0.03181	0.1254:0.3965:0.122:0.3561	.	413	Q96DN2	VWCE_HUMAN	N	413	ENSP00000334186:K413N	ENSP00000334186:K413N	K	-	3	2	VWCE	60804757	0.378000	0.25114	0.454000	0.27019	0.687000	0.40016	-0.021000	0.12504	-0.151000	0.11176	-0.136000	0.14681	AAG		TCGA-IB-7651-01A-11D-2154-08	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	1	0	1	37	193	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	37	190	0	40	2								-3.351921	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
DDB1	1642	broad.mit.edu	37	11	61068386	61068386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068386G>A	ENST00000301764.7	-	26	3631	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	DDB1_ENST00000538470.1_Silent_p.T125T|DDB1_ENST00000450997.2_Silent_p.T389T|DDB1_ENST00000451943.2_Silent_p.T65T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa			48					TCTTCCGCTCGGTGTGAAAGG	0.512000								Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000301764.7	1	1	hg19	CCDS31576.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	1	0	0	14	326	0	70	1	9.999995e-01	45	656	0	70	2		0	0	0	0	0	2	1	9.997325e-01	13	320	0	69	2								-2.640440	1	0	121412	5	37	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.500000	0.280000	1.000000	0.480000	0.529474	0.500000	0	3.800000e-01	6.600000e-01
DDB1	1642	broad.mit.edu	37	11	61068395	61068395	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068395G>T	ENST00000301764.7	-	26	3622	c.3225C>A	c.(3223-3225)tcC>tcA	p.S1075S	DDB1_ENST00000538470.1_Silent_p.S122S|DDB1_ENST00000450997.2_Silent_p.S386S|DDB1_ENST00000451943.2_Silent_p.S62S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa			48					CGGTGTGAAAGGATCTCCAGG	0.502000								Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000301764.7	1	1	hg19	CCDS31576.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	0	0	10	317	0	71	1	9.999856e-01	31	730	0	71	2		0	0	0	0	0	2	1	9.966999e-01	10	311	0	70	2								-3.140273	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.370000	0.190000	1.000000	0.350000	0.412475	0.370000	0	2.700000e-01	5.200000e-01
DDB1	1642	broad.mit.edu	37	11	61079518	61079518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61079518G>A	ENST00000301764.7	-	17	2505	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa			48					CTCATCGATGGTGCCAATGGT	0.552000								Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000301764.7	1	1	hg19	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074833	0.94000	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.32023	1.47;1.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.81239	2.535	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.60984	-0.7154	10	0.54805	T	0.06	-30.8279	19.9702	0.97282	0.0:0.0:1.0:0.0	.	703	Q16531	DDB1_HUMAN	I	703;170	ENSP00000301764:T703I;ENSP00000444650:T170I	ENSP00000301764:T703I	T	-	2	0	DDB1	60836094	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.869000	0.99810	2.724000	0.93272	0.491000	0.48974	ACC		TCGA-IB-7651-01A-11D-2154-08	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	1	0	1	62	700	0	161	1	1	80	485	0	161	2		0	0	0	0	0	2	1	1	62	685	0	160	2								-14.831750	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.960000	0.740000	1.000000	1.000000	0.937788	0.960000	1	8.400000e-01	1
DDB1	1642	broad.mit.edu	37	11	61080983	61080983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61080983C>T	ENST00000301764.7	-	16	2454	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa			48					GTCAGGATAGCCATCTGAATT	0.438000								Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000301764.7	1	1	hg19	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181655	0.78677	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.28454	1.61;1.61	5.63	5.63	0.86233	.	0.049844	0.85682	D	0.000000	T	0.30230	0.0758	L	0.50333	1.59	0.80722	D	1	P	0.41748	0.761	B	0.36885	0.235	T	0.03993	-1.0986	10	0.21014	T	0.42	-24.9162	19.7096	0.96089	0.0:1.0:0.0:0.0	.	686	Q16531	DDB1_HUMAN	D	686;153	ENSP00000301764:G686D;ENSP00000444650:G153D	ENSP00000301764:G686D	G	-	2	0	DDB1	60837559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.737000	0.84957	2.652000	0.90054	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	1	0	1	56	264	0	70	1	1	141	379	0	70	2		0	0	0	0	0	2	1	1	56	258	0	68	2								-3.384666	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPSF7	79869	broad.mit.edu	37	11	61187476	61187476	+	Silent	SNP	G	G	A	rs138161429	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61187476G>A	ENST00000394888.4	-	5	640	c.468C>T	c.(466-468)gaC>gaT	p.D156D	CPSF7_ENST00000340437.4_Silent_p.D199D|CPSF7_ENST00000448745.1_Silent_p.D156D|CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000541963.1_3'UTR	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa			22					CCGGCCTCACGTCCACTTTTT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000394888.4	1	1	hg19	CCDS44619.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	1	0	1	112	483	0	125	1	1	30	74	0	125	2		0	0	0	0	0	2	1	1	107	460	0	119	2								-3.109244	1	1	121412	58	51	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT7	9066	broad.mit.edu	37	11	61290707	61290707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61290707C>T	ENST00000263846.4	-	8	1274	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII			15					CTTCTCCACCCGCTTGTCCTT	0.562000																								0							SO:0001583	missense			ENST00000263846.4	1	1	hg19	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697219	0.88830	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.53	4.53	0.55603	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.925;0.939	D	0.85729	0.1330	10	0.87932	D	0	.	17.8501	0.88744	0.0:1.0:0.0:0.0	.	391;316	F5GZU9;O43581	.;SYT7_HUMAN	Q	316;391;599;360;524;435	ENSP00000263846:R316Q;ENSP00000444201:R391Q;ENSP00000439694:R599Q;ENSP00000444568:R360Q;ENSP00000444019:R524Q;ENSP00000437720:R435Q	ENSP00000263846:R316Q	R	-	2	0	SYT7	61047283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.897000	0.69831	2.524000	0.85096	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	1	0	1	85	398	0	117	0	9.918541e-01	1	36	0	117	2		0	0	0	0	0	2	1	1	83	383	0	117	2								-2.488598	0	1	121412	1	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT7	9066	broad.mit.edu	37	11	61295552	61295552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61295552T>C	ENST00000263846.4	-	5	784	c.457A>G	c.(457-459)Acc>Gcc	p.T153A	SYT7_ENST00000535826.1_Missense_Mutation_p.T272A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000542670.1_Missense_Mutation_p.T361A|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII			15					ATCTTCACGGTGAGCGTGGAC	0.617000																								0							SO:0001583	missense			ENST00000263846.4	1	1	hg19	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101750	0.76983	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.045776	0.85682	D	0.000000	T	0.68439	0.3001	L	0.52573	1.65	0.58432	D	0.999999	B;B	0.26318	0.12;0.146	B;B	0.42771	0.342;0.397	T	0.63260	-0.6677	10	0.19147	T	0.46	.	14.4057	0.67081	0.0:0.0:0.0:1.0	.	228;153	F5GZU9;O43581	.;SYT7_HUMAN	A	153;228;436;197;361;272;153	ENSP00000263846:T153A;ENSP00000444201:T228A;ENSP00000439694:T436A;ENSP00000444568:T197A;ENSP00000444019:T361A;ENSP00000437720:T272A;ENSP00000443576:T153A	ENSP00000263846:T153A	T	-	1	0	SYT7	61052128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.249000	0.72427	1.960000	0.56953	0.459000	0.35465	ACC		TCGA-IB-7651-01A-11D-2154-08	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	1	0	0	40	514	0	86	0	5.087585e-01	0	23	0	86	2		0	0	0	0	0	2	1	1	38	505	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.850000	0.620000	1.000000	1.000000	0.858173	0.850000	1	7.300000e-01	1
SYT7	9066	broad.mit.edu	37	11	61323619	61323619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61323619G>T	ENST00000263846.4	-	2	419	c.92C>A	c.(91-93)aCt>aAt	p.T31N	SYT7_ENST00000535826.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000542670.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII			15					GAGGACGACAGTGACGCTAAG	0.667000																								0							SO:0001583	missense			ENST00000263846.4	1	1	hg19	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494952	0.85069	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.59083	0.41;0.29;0.52;0.38;0.36;0.37;1.84	4.98	4.98	0.66077	.	0.441308	0.22038	N	0.065486	T	0.46502	0.1396	N	0.14661	0.345	0.29298	N	0.868872	D;P	0.54207	0.965;0.666	P;B	0.44811	0.461;0.13	T	0.46978	-0.9152	10	0.37606	T	0.19	.	18.2399	0.89963	0.0:0.0:1.0:0.0	.	31;31	F5GZU9;O43581	.;SYT7_HUMAN	N	31	ENSP00000263846:T31N;ENSP00000444201:T31N;ENSP00000439694:T31N;ENSP00000444568:T31N;ENSP00000444019:T31N;ENSP00000437720:T31N;ENSP00000443576:T31N	ENSP00000263846:T31N	T	-	2	0	SYT7	61080195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.544000	0.67231	2.460000	0.83146	0.591000	0.81541	ACT		TCGA-IB-7651-01A-11D-2154-08	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	1	0	1	25	143	0	25	0	4.625418e-01	0	10	0	25	2		0	0	0	0	0	2	1	9.999999e-01	25	141	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999768	0.990000	1	9.900000e-01	1
DAGLA	747	broad.mit.edu	37	11	61490390	61490390	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61490390T>C	ENST00000257215.5	+	4	483	c.367T>C	c.(367-369)Tac>Cac	p.Y123H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha			43					CACTCAGTACTACACCTCCTG	0.612000																								0							SO:0001583	missense			ENST00000257215.5	1	1	hg19	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252832	0.80135	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.27365	-1.0076	10	0.46703	T	0.11	-31.8586	15.0401	0.71785	0.0:0.0:0.0:1.0	.	123	Q9Y4D2	DGLA_HUMAN	H	123	ENSP00000257215:Y123H	ENSP00000257215:Y123H	Y	+	1	0	DAGLA	61246966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.267000	0.78462	2.027000	0.59764	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	0	0	1	102	480	0	91	0	5.460438e-01	0	10	0	91	2		0	0	0	0	0	2	1	1	98	469	0	90	2								-20.000000	1	1	121412	1	27	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAGLA	747	broad.mit.edu	37	11	61498802	61498802	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61498802G>A	ENST00000257215.5	+	9	979	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha			43					GAGATGCTCCGCTACAAAGAG	0.632000																								0							SO:0001583	missense			ENST00000257215.5	1	1	hg19	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609647	0.46527	.	.	ENSG00000134780	ENST00000257215	T	0.23950	1.88	4.83	4.83	0.62350	.	0.051766	0.85682	D	0.000000	T	0.18841	0.0452	N	0.14661	0.345	0.51767	D	0.999934	D	0.61080	0.989	P	0.45232	0.474	T	0.04840	-1.0923	10	0.15066	T	0.55	-31.8186	18.3022	0.90168	0.0:0.0:1.0:0.0	.	288	Q9Y4D2	DGLA_HUMAN	H	288	ENSP00000257215:R288H	ENSP00000257215:R288H	R	+	2	0	DAGLA	61255378	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	6.339000	0.72969	2.416000	0.81992	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	1	0	1	82	358	0	73	0	4.592269e-01	1	7	0	73	2		0	0	0	0	0	2	1	1	81	349	0	72	2								-3.444178	1	1	121412	4	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAGLA	747	broad.mit.edu	37	11	61503244	61503244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61503244C>T	ENST00000257215.5	+	12	1362	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha			43					TGATGCTGAGCGCCTCCCCGT	0.667000																								0							SO:0001583	missense			ENST00000257215.5	0	1	hg19	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662092	0.88251	.	.	ENSG00000134780	ENST00000257215	T	0.24908	1.83	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.54805	T	0.06	-27.7272	16.3615	0.83270	0.0:1.0:0.0:0.0	.	416	Q9Y4D2	DGLA_HUMAN	C	416	ENSP00000257215:R416C	ENSP00000257215:R416C	R	+	1	0	DAGLA	61259820	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.453000	0.66645	2.157000	0.67596	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	0	0	0	5	120	0	22	0	2.279508e-02	0	5	0	22	2		0	0	0	0	0	2	1	9.347996e-01	5	117	0	22	2								-7.915569	1	1	121384	2	26	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.510000	0.190000	1.000000	1.000000	0.551106	0.510000	0	3.200000e-01	7.800000e-01
DAGLA	747	broad.mit.edu	37	11	61507115	61507115	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61507115A>C	ENST00000257215.5	+	17	1951	c.1835A>C	c.(1834-1836)cAc>cCc	p.H612P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha			43					GTCCACAACCACCCTGCAGAG	0.657000																								0							SO:0001583	missense			ENST00000257215.5	1	1	hg19	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701586	0.68501	.	.	ENSG00000134780	ENST00000257215	T	0.25749	1.78	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.35847	-0.9772	10	0.42905	T	0.14	-33.9652	13.6453	0.62277	1.0:0.0:0.0:0.0	.	612	Q9Y4D2	DGLA_HUMAN	P	612	ENSP00000257215:H612P	ENSP00000257215:H612P	H	+	2	0	DAGLA	61263691	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.266000	0.95659	1.688000	0.51068	0.379000	0.24179	CAC		TCGA-IB-7651-01A-11D-2154-08	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	1	0	1	53	231	0	68	0	5.265519e-01	0	9	0	68	2		0	0	0	0	0	2	1	1	53	226	0	66	2								-3.477420	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FADS1	3992	broad.mit.edu	37	11	61580775	61580775	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61580775C>A	ENST00000350997.7	-	2	658	c.426G>T	c.(424-426)atG>atT	p.M142I	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000257261.6_5'Flank|FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000541683.1_5'Flank	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1			4				Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGAGAGAGTTCATATACTTCT	0.512000																								0							SO:0001583	missense			ENST00000350997.7	0	1	hg19	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033804	0.75504	.	.	ENSG00000149485	ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000540767;ENST00000545245;ENST00000545405;ENST00000421879;ENST00000544696;ENST00000466716;ENST00000544309;ENST00000539419;ENST00000448607;ENST00000473263	T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;2.03;2.03;1.57;1.57;1.58;1.55;0.85;0.86;0.85	5.43	5.43	0.79202	Cytochrome b5 (5);	.	.	.	.	T	0.80613	0.4656	L	0.56396	1.775	0.80722	D	1	B	0.15473	0.013	B	0.23275	0.045	T	0.76798	-0.2826	9	0.72032	D	0.01	-10.6168	19.2379	0.93869	0.0:1.0:0.0:0.0	.	85	O60427	FADS1_HUMAN	I	142;1;1;1;1;1;1;1;1;1;1;1;1;1	ENSP00000322229:M142I;ENSP00000405087:M1I;ENSP00000441403:M1I;ENSP00000441871:M1I;ENSP00000442170:M1I;ENSP00000440652:M1I;ENSP00000416043:M1I;ENSP00000443037:M1I;ENSP00000446270:M1I;ENSP00000439790:M1I	ENSP00000322229:M142I	M	-	3	0	FADS1	61337351	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.037000	0.64170	2.716000	0.92895	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	1	0	1	146	645	0	160	1	9.999006e-01	9	51	0	160	2		0	0	0	0	0	2	1	1	143	630	0	157	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FADS3	3995	broad.mit.edu	37	11	61644341	61644341	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61644341A>T	ENST00000278829.2	-	8	1132	c.980T>A	c.(979-981)gTc>gAc	p.V327D	FADS3_ENST00000525588.1_Missense_Mutation_p.V299D|FADS3_ENST00000540820.1_Missense_Mutation_p.V327D|FADS3_ENST00000527697.1_Missense_Mutation_p.V203D	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3			15					GCCATACCTGACAGCAACAAA	0.612000																								0							SO:0001583	missense			ENST00000278829.2	1	1	hg19	CCDS8013.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	26.2|26.2|26.2	4.713735|4.713735|4.713735	0.89112|0.89112|0.89112	.|.|.	.|.|.	ENSG00000221968|ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527379|ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588	.|.|T;T;T;T	.|.|0.73469	.|.|-0.75;-0.75;-0.75;-0.75	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|.|Fatty acid desaturase, type 1 (1);	.|.|.	.|.|.	.|.|.	.|.|.	.|D|D	.|0.88265|0.88265	.|0.6390|0.6390	M|M|M	0.93763|0.93763|0.93763	3.455|3.455|3.455	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D	.|.|0.59357	.|.|0.915;0.985	.|.|D;D	.|.|0.69142	.|.|0.936;0.962	.|D|D	.|0.89161|0.89161	.|0.3530|0.3530	.|5|9	.|.|0.36615	.|.|T	.|.|0.2	.|.|.	12.8165|12.8165|12.8165	0.57669|0.57669|0.57669	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|203;327	.|.|E9PKP8;Q9Y5Q0	.|.|.;FADS3_HUMAN	X|T|D	1|102|203;327;327;299	.|.|ENSP00000431533:V203D;ENSP00000278829:V327D;ENSP00000439308:V327D;ENSP00000432206:V299D	.|.|ENSP00000278829:V327D	C|S|V	-|-|-	3|1|2	2|0|0	FADS3|FADS3|FADS3	61400917|61400917|61400917	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	7.444000|7.444000|7.444000	0.80532|0.80532|0.80532	2.046000|2.046000|2.046000	0.60703|0.60703|0.60703	0.448000|0.448000|0.448000	0.29417|0.29417|0.29417	TGT|TCA|GTC		TCGA-IB-7651-01A-11D-2154-08	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1	1	0	1	14	55	0	16	1	9.999987e-01	36	85	0	16	2		0	0	0	0	0	2	1	9.998271e-01	13	54	0	15	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999699	0.990000	1	9.900000e-01	1
FADS3	3995	broad.mit.edu	37	11	61645639	61645639	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61645639A>G	ENST00000278829.2	-	6	948	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H|FADS3_ENST00000540820.1_Missense_Mutation_p.Y266H|FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3			15					AGGAAGAAGTACAGGTGCTGC	0.602000																								0							SO:0001583	missense			ENST00000278829.2	1	1	hg19	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.058693	0.76074	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.35	4.18	0.49190	Fatty acid desaturase, type 1 (1);	.	.	.	.	D	0.87063	0.6084	H	0.94847	3.59	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89775	0.3957	9	0.87932	D	0	-10.4061	11.4256	0.50009	0.8493:0.1507:0.0:0.0	.	142;266	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	H	142;266;266;238;142;142	ENSP00000431533:Y142H;ENSP00000278829:Y266H;ENSP00000439308:Y266H;ENSP00000432206:Y238H;ENSP00000436890:Y142H;ENSP00000434551:Y142H	ENSP00000278829:Y266H	Y	-	1	0	FADS3	61402215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.605000	0.82844	2.041000	0.60428	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1	1	0	1	123	580	0	123	1	1	28	88	0	123	2		0	0	0	0	0	2	1	1	121	571	0	122	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FADS3	3995	broad.mit.edu	37	11	61646013	61646013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61646013C>T	ENST00000278829.2	-	5	870	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	FADS3_ENST00000525588.1_Missense_Mutation_p.V212I|FADS3_ENST00000540820.1_Missense_Mutation_p.V240I|FADS3_ENST00000527697.1_Missense_Mutation_p.V116I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3			15					AGGAGGAAGACGGGCGCCACC	0.647000																								0							SO:0001583	missense			ENST00000278829.2	1	1	hg19	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	6.370	0.436452	0.12104	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.51	2.62	0.31277	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.28928	0.0718	N	0.16307	0.4	0.32096	N	0.59122	B;B	0.12013	0.0;0.005	B;B	0.15870	0.005;0.014	T	0.26677	-1.0096	9	0.27785	T	0.31	-8.0686	8.2672	0.31821	0.1553:0.7602:0.0:0.0845	.	116;240	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	116;240;240;212;116;116	ENSP00000431533:V116I;ENSP00000278829:V240I;ENSP00000439308:V240I;ENSP00000432206:V212I;ENSP00000436890:V116I;ENSP00000434551:V116I	ENSP00000278829:V240I	V	-	1	0	FADS3	61402589	0.000000	0.05858	0.828000	0.32881	0.090000	0.18270	-2.451000	0.01006	0.453000	0.26858	-0.268000	0.10319	GTC		TCGA-IB-7651-01A-11D-2154-08	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1	0	0	1	18	426	1	96	1	3.253220e-01	15	94	1	96	6		0	0	0	0	0	2	1	6.831181e-01	16	422	1	94	16								-4.231617	1	1	121408	2	27	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.490000	0.290000	1.000000	0.470000	0.516990	0.490000	0	3.800000e-01	6.300000e-01
BEST1	7439	broad.mit.edu	37	11	61727416	61727416	+	Missense_Mutation	SNP	C	C	T	rs148326372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61727416C>T	ENST00000378043.4	+	9	1644	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.P274L|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1			25					CGGATGGAGCCGGACATGTAC	0.587000																								0							SO:0001583	missense			ENST00000378043.4	1	1	hg19	CCDS31580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.926903|2.926903	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167995|ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000449131|ENST00000526988	D;D;D|D	0.96802|0.99158	-4.13;-3.81;-4.08|-5.5	5.02|5.02	0.81|0.81	0.18732|0.18732	.|.	0.563498|.	0.18960|.	N|.	0.126429|.	D|D	0.95717|0.95717	0.8607|0.8607	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|D;D	0.31227|0.69078	0.314;0.13;0.314|0.997;0.997	B;B;B|P;P	0.21360|0.49637	0.024;0.011;0.034|0.617;0.617	D|D	0.92229|0.92229	0.5791|0.5791	10|9	0.87932|0.66056	D|D	0|0.02	-11.183|-11.183	5.1413|5.1413	0.14961|0.14961	0.4175:0.1753:0.4072:0.0|0.4175:0.1753:0.4072:0.0	.|.	247;334;274|296;342	O76090-4;O76090;O76090-3|B7Z1N8;B7Z336	.;BEST1_HUMAN;.|.;.	L|W	334;247;274|296	ENSP00000367282:P334L;ENSP00000367281:P247L;ENSP00000399709:P274L|ENSP00000433195:R296W	ENSP00000367281:P247L|ENSP00000432681:R402W	P|R	+|+	2|1	0|2	BEST1|BEST1	61483992|61483992	1.000000|1.000000	0.71417|0.71417	0.755000|0.755000	0.31263|0.31263	0.223000|0.223000	0.24884|0.24884	2.021000|2.021000	0.41020|0.41020	0.204000|0.204000	0.20548|0.20548	-0.300000|-0.300000	0.09419|0.09419	CCG|CGG		TCGA-IB-7651-01A-11D-2154-08	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	1	0	1	15	115	0	26	0	3.450528e-01	0	10	0	26	2		0	0	0	0	0	2	1	9.999052e-01	15	115	0	25	2								-19.999420	1	1	121410	7	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.810000	1.000000	1.000000	0.987100	0.990000	1	9.900000e-01	1
BEST1	7439	broad.mit.edu	37	11	61730290	61730290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61730290C>A	ENST00000378043.4	+	10	2307	c.1664C>A	c.(1663-1665)cCt>cAt	p.P555H	BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.P183H|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.P495H|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1			25					CTCAAAGAACCTTTGGAACAA	0.478000																								0							SO:0001583	missense			ENST00000378043.4	0	1	hg19	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	9.393	1.076004	0.20227	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.96992	-4.19;-3.98;-0.15;-4.2	3.97	0.871	0.19107	.	2.113420	0.02237	N	0.065424	D	0.92166	0.7516	L	0.27053	0.805	0.20074	N	0.999932	B;B;B	0.20261	0.011;0.006;0.043	B;B;B	0.18871	0.012;0.005;0.023	T	0.83072	-0.0142	10	0.42905	T	0.14	-0.0463	4.6544	0.12610	0.1568:0.6:0.1525:0.0907	.	468;555;495	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	H	555;468;183;495	ENSP00000367282:P555H;ENSP00000367281:P468H;ENSP00000301774:P183H;ENSP00000399709:P495H	ENSP00000301774:P183H	P	+	2	0	BEST1	61486866	0.001000	0.12720	0.001000	0.08648	0.204000	0.24138	0.617000	0.24359	0.373000	0.24621	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	0	0	0	10	352	0	68	0	8.617898e-02	0	16	0	68	2		0	0	0	0	0	2	1	9.964693e-01	8	343	0	67	2								-3.264894	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.340000	0.170000	1.000000	0.330000	0.376948	0.340000	0	2.400000e-01	4.700000e-01
INCENP	3619	broad.mit.edu	37	11	61908436	61908436	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61908436C>A	ENST00000394818.3	+	10	1715	c.1513C>A	c.(1513-1515)Ctc>Atc	p.L505I	INCENP_ENST00000278849.4_Missense_Mutation_p.L505I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa			19					GAACCAGATGCTCATGACCCC	0.632000																								0							SO:0001583	missense			ENST00000394818.3	0	1	hg19	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140644	0.77775	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.48836	0.8;0.8	5.46	5.46	0.80206	.	0.000000	0.47093	D	0.000253	T	0.68393	0.2996	M	0.71581	2.175	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.991	T	0.69312	-0.5178	10	0.52906	T	0.07	.	16.8154	0.85733	0.0:1.0:0.0:0.0	.	505;505;505	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	I	505	ENSP00000378295:L505I;ENSP00000278849:L505I	ENSP00000278849:L505I	L	+	1	0	INCENP	61665012	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.641000	0.74324	2.573000	0.86826	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	0	0	0	10	355	0	85	1	4.972965e-01	2	55	0	85	2		0	0	0	0	0	2	1	9.967594e-01	10	350	0	85	2								-10.032830	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.330000	0.170000	1.000000	0.310000	0.374214	0.330000	0	2.400000e-01	4.700000e-01
INCENP	3619	broad.mit.edu	37	11	61917621	61917621	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61917621C>T	ENST00000394818.3	+	18	2686	c.2484C>T	c.(2482-2484)agC>agT	p.S828S	INCENP_ENST00000278849.4_Silent_p.S824S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa			19					ATCTGAATAGCGACGACTCCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000394818.3	1	1	hg19	CCDS44624.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	1	0	1	82	363	0	102	1	9.998200e-01	11	47	0	102	2		0	0	0	0	0	2	1	1	78	360	0	100	2								-20.000000	1	1	121412	3	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INCENP	3619	broad.mit.edu	37	11	61919402	61919402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61919402G>A	ENST00000394818.3	+	19	2913	c.2711G>A	c.(2710-2712)gGc>gAc	p.G904D	INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa			19					CCCCTGCAGGGCGCCAGGGTC	0.607000																								0							SO:0001583	missense			ENST00000394818.3	1	1	hg19	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349411	0.41599	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.15718	2.46;2.4	5.66	0.169	0.15017	.	0.256920	0.27558	N	0.018829	T	0.22627	0.0546	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.04900	-1.0919	10	0.72032	D	0.01	.	6.141	0.20259	0.0733:0.3729:0.4324:0.1213	.	900;904	Q9NQS7-2;Q9NQS7	.;INCE_HUMAN	D	904;900	ENSP00000378295:G904D;ENSP00000278849:G900D	ENSP00000278849:G900D	G	+	2	0	INCENP	61675978	0.991000	0.36638	0.069000	0.20011	0.248000	0.25809	2.172000	0.42463	0.016000	0.14998	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	1	0	1	44	237	0	57	1	9.862626e-01	13	26	0	57	2		0	0	0	0	0	2	1	1	42	233	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SCGB2A1	4246	broad.mit.edu	37	11	61977935	61977935	+	Missense_Mutation	SNP	G	G	A	rs145763601	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61977935G>A	ENST00000244930.4	+	2	170	c.106G>A	c.(106-108)Gac>Aac	p.D36N	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1			6					CATCAATTCCGACATATCTAT	0.403000																								0							SO:0001583	missense			ENST00000244930.4	1	1	hg19	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895658	0.17686	0.002498	0.0	ENSG00000124939	ENST00000244930	T	0.39997	1.05	3.54	-7.08	0.01558	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.36534	0.227	T	0.06552	-1.0820	8	0.19147	T	0.46	.	1.3238	0.02121	0.1647:0.3311:0.2854:0.2188	.	36	O75556	SG2A1_HUMAN	N	36	ENSP00000244930:D36N	ENSP00000244930:D36N	D	+	1	0	SCGB2A1	61734511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.952000	0.00677	-3.616000	0.00131	-0.315000	0.08773	GAC		TCGA-IB-7651-01A-11D-2154-08	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	0	0	1	94	511	0	109	1	9.991152e-01	2	56	0	109	2		0	0	0	0	0	2	1	1	91	496	0	108	2								-5.647259	1	1	121412	41	49	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCGB1D4	404552	broad.mit.edu	37	11	62064997	62064997	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62064997C>T	ENST00000358585.1	-	2	242	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4			2					CGGTGCAGTGCTTCACTTCCA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000358585.1	1	1	hg19	CCDS31583.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	1	0	0	277	1153	0	289		0	0	0	0	289	2		0	0	0	0	0	2	1	1	275	1135	0	288	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62284885	62284885	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62284885G>A	ENST00000378024.4	-	5	17278	c.17004C>T	c.(17002-17004)ttC>ttT	p.F5668F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			CACGGCCAGAGAAGGTAAATT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000378024.4	1	1	hg19	CCDS31584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	0	75	266	0	78	1	1	364	1207	0	78	2		0	0	0	0	0	2	1	1	73	263	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62285051	62285051	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285051A>C	ENST00000378024.4	-	5	17112	c.16838T>G	c.(16837-16839)tTt>tGt	p.F5613C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			GCCCCCAGCAAACTTAGATGT	0.542000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329771	0.24167	.	.	ENSG00000124942	ENST00000378024	T	0.00922	5.54	4.85	3.73	0.42828	.	0.956702	0.08511	U	0.934902	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.60789	0.879	T	0.57470	-0.7806	10	0.41790	T	0.15	0.0	8.3362	0.32217	0.9051:0.0:0.0949:0.0	.	5613	Q09666	AHNK_HUMAN	C	5613	ENSP00000367263:F5613C	ENSP00000367263:F5613C	F	-	2	0	AHNAK	62041627	0.127000	0.22367	0.001000	0.08648	0.394000	0.30568	5.271000	0.65553	0.709000	0.31976	0.519000	0.50382	TTT		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	199	767	0	205	1	1	314	1172	0	205	2		0	0	0	0	0	2	1	1	194	755	0	203	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62285755	62285755	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285755A>G	ENST00000378024.4	-	5	16408	c.16134T>C	c.(16132-16134)ggT>ggC	p.G5378G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			ATTTGATGTCACCAGAGACAG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000378024.4	1	1	hg19	CCDS31584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	1	78	386	0	69	1	1	276	970	0	69	2		0	0	0	0	0	2	1	1	77	374	0	69	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62285818	62285818	+	Silent	SNP	G	G	A	rs137898001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285818G>A	ENST00000378024.4	-	5	16345	c.16071C>T	c.(16069-16071)aaC>aaT	p.N5357N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			GTGCCCCAACGTTAAGCTTTG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000378024.4	1	1	hg19	CCDS31584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	82	364	0	92	1	1	253	1127	0	92	2		0	0	0	0	0	2	1	1	80	350	0	92	2								-3.902966	1	0	121412	20	45	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62286943	62286943	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62286943A>G	ENST00000378024.4	-	5	15220	c.14946T>C	c.(14944-14946)ttT>ttC	p.F4982F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			TTTTTGCCCCAAATCCAAACT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000378024.4	1	1	hg19	CCDS31584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	108	492	0	88	1	1	187	522	0	88	2		0	0	0	0	0	2	1	1	107	484	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62287933	62287933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62287933C>T	ENST00000378024.4	-	5	14230	c.13956G>A	c.(13954-13956)atG>atA	p.M4652I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			TCACTTTGGGCATTTTTAGGT	0.537000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797458	0.31777	.	.	ENSG00000124942	ENST00000378024	T	0.01918	4.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.89534	3.04	0.39705	D	0.971245	D	0.56521	0.976	D	0.73380	0.98	T	0.12372	-1.0550	10	0.25751	T	0.34	-32.4759	18.5463	0.91047	0.0:1.0:0.0:0.0	.	4652	Q09666	AHNK_HUMAN	I	4652	ENSP00000367263:M4652I	ENSP00000367263:M4652I	M	-	3	0	AHNAK	62044509	0.998000	0.40836	1.000000	0.80357	0.275000	0.26752	1.013000	0.29937	2.468000	0.83385	0.543000	0.68304	ATG		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	250	1301	0	396	1	1	108	503	0	396	2		0	0	0	0	0	2	1	1	242	1264	0	398	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62290929	62290929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62290929G>T	ENST00000378024.4	-	5	11234	c.10960C>A	c.(10960-10962)Ctg>Atg	p.L3654M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			GGGCCCTTCAGCTTTGCATCT	0.473000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.85	1.760746	0.31137	.	.	ENSG00000124942	ENST00000378024	T	0.01397	4.94	5.16	0.884	0.19182	.	1.419600	0.05322	N	0.526753	T	0.03305	0.0096	M	0.88775	2.98	0.20403	N	0.99991	P	0.37663	0.604	B	0.36134	0.218	T	0.43861	-0.9365	10	0.38643	T	0.18	-6.531	2.8861	0.05661	0.2244:0.1249:0.5235:0.1273	.	3654	Q09666	AHNK_HUMAN	M	3654	ENSP00000367263:L3654M	ENSP00000367263:L3654M	L	-	1	2	AHNAK	62047505	0.000000	0.05858	0.287000	0.24848	0.643000	0.38383	-2.341000	0.01100	0.482000	0.27582	0.579000	0.79373	CTG		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	1	301	1202	0	351	1	1	134	628	0	351	2		0	0	0	0	0	2	1	1	297	1181	0	344	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62291340	62291340	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291340G>T	ENST00000378024.4	-	5	10823	c.10549C>A	c.(10549-10551)Ctc>Atc	p.L3517I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			TCCACATTGAGATCTGGGCCC	0.478000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.016	-1.538701	0.00942	.	.	ENSG00000124942	ENST00000378024	T	0.00642	6.02	4.81	-9.61	0.00550	.	.	.	.	.	T	0.00384	0.0012	N	0.04669	-0.19	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.49184	-0.8966	9	0.15499	T	0.54	.	13.4681	0.61268	0.0:0.5675:0.2339:0.1986	.	3517	Q09666	AHNK_HUMAN	I	3517	ENSP00000367263:L3517I	ENSP00000367263:L3517I	L	-	1	0	AHNAK	62047916	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	-3.861000	0.00348	-2.639000	0.00430	0.447000	0.29281	CTC		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	1	165	570	0	138	1	1	114	414	0	138	2		0	0	0	0	0	2	1	1	163	559	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62291895	62291895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291895G>T	ENST00000378024.4	-	5	10268	c.9994C>A	c.(9994-9996)Cca>Aca	p.P3332T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			TCCACTTCTGGGCCCTTTATA	0.418000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734589	0.30774	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.37	4.37	0.52481	.	.	.	.	.	T	0.37265	0.0997	H	0.96720	3.87	0.30628	N	0.757809	D	0.89917	1.0	D	0.85130	0.997	T	0.56038	-0.8045	9	0.66056	D	0.02	.	12.4383	0.55612	0.0:0.1695:0.8305:0.0	.	3332	Q09666	AHNK_HUMAN	T	3332	ENSP00000367263:P3332T	ENSP00000367263:P3332T	P	-	1	0	AHNAK	62048471	1.000000	0.71417	0.983000	0.44433	0.383000	0.30230	7.257000	0.78362	1.975000	0.57531	0.305000	0.20034	CCA		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	55	197	0	59	1	1	108	422	0	59	2		0	0	0	0	0	2	1	1	55	193	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62293900	62293900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62293900G>A	ENST00000378024.4	-	5	8263	c.7989C>T	c.(7987-7989)ccC>ccT	p.P2663P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			TGTCAGCCTTGGGCAGCTTCA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000378024.4	1	1	hg19	CCDS31584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	236	1056	0	273	1	1	71	363	0	273	2		0	0	0	0	0	2	1	1	231	1020	0	270	2								-2.948185	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62295806	62295806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62295806G>A	ENST00000378024.4	-	5	6357	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			GTCCATTTTGGGTCCTTTGAT	0.493000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	8.654	0.898950	0.17686	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05717	3.4	3.9	3.9	0.45041	.	0.000000	0.34555	U	0.003875	T	0.40247	0.1109	H	0.97940	4.11	0.45087	D	0.9981	D	0.76494	0.999	D	0.76575	0.988	T	0.65676	-0.6110	10	0.87932	D	0	.	15.5123	0.75793	0.0:0.0:1.0:0.0	.	2028	Q09666	AHNK_HUMAN	L	117;2028	ENSP00000367263:P2028L	ENSP00000244934:P117L	P	-	2	0	AHNAK	62052382	.	.	0.153000	0.22517	0.340000	0.28889	.	.	1.723000	0.51488	0.298000	0.19748	CCC		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	1	389	1822	1	442	1	1	52	230	1	442	6		0	0	0	0	0	2	1	1	380	1783	1	440	24								-20.000000	1	1	121412	1	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62296060	62296060	+	Silent	SNP	C	C	T	rs601430		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62296060C>T	ENST00000378024.4	-	5	6103	c.5829G>A	c.(5827-5829)tcG>tcA	p.S1943S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	p.S1943S(1)		268		Melanoma(852;0.155)			ATTTTGGCACCGACACATCCA	0.512000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000378024.4	1	0	hg19	CCDS31584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	313	1280	0	323	1	1	25	188	0	323	2		0	0	0	0	0	2	1	1	304	1235	0	320	2								-2.479517	0	1	121410	52	52	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62299043	62299043	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299043G>T	ENST00000378024.4	-	5	3120	c.2846C>A	c.(2845-2847)cCt>cAt	p.P949H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			GTCCACATCAGGCATGGAGAT	0.463000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	19.41	3.821686	0.71028	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	4.78	4.78	0.61160	.	0.133316	0.51477	D	0.000095	T	0.39279	0.1072	H	0.96015	3.755	0.41368	D	0.987472	D	0.89917	1.0	D	0.87578	0.998	T	0.60596	-0.7232	10	0.72032	D	0.01	-5.9758	17.7797	0.88520	0.0:0.0:1.0:0.0	.	949	Q09666	AHNK_HUMAN	H	949	ENSP00000367263:P949H	ENSP00000367263:P949H	P	-	2	0	AHNAK	62055619	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.298000	0.78815	2.358000	0.79984	0.455000	0.32223	CCT		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	179	1015	0	266	1	1	42	152	0	266	2		0	0	0	0	0	2	1	1	173	990	1	265	16								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62299103	62299103	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299103A>G	ENST00000378024.4	-	5	3060	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			GGGGCCCTTCAGCTTTCCTTC	0.488000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	15.82	2.945953	0.53079	.	.	ENSG00000124942	ENST00000378024	T	0.01034	5.42	4.78	4.78	0.61160	.	0.427685	0.20173	N	0.097700	T	0.07052	0.0179	M	0.89601	3.045	0.32021	N	0.600752	D	0.89917	1.0	D	0.91635	0.999	T	0.07385	-1.0775	10	0.33940	T	0.23	-6.898	14.2733	0.66164	1.0:0.0:0.0:0.0	.	929	Q09666	AHNK_HUMAN	P	929	ENSP00000367263:L929P	ENSP00000367263:L929P	L	-	2	0	AHNAK	62055679	0.042000	0.20092	0.955000	0.39395	0.913000	0.54294	3.328000	0.52052	1.910000	0.55303	0.374000	0.22700	CTG		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	183	985	0	257	1	1	49	209	0	257	2		0	0	0	0	0	2	1	1	178	961	1	255	16								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62299523	62299523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299523G>A	ENST00000378024.4	-	5	2640	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			CACATCAGGAGCAGTAACATC	0.493000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	0.357	-0.941407	0.02322	.	.	ENSG00000124942	ENST00000378024	T	0.01015	5.44	5.46	0.183	0.15082	.	0.227351	0.25774	N	0.028383	T	0.00724	0.0024	N	0.16602	0.42	0.21950	N	0.999455	B	0.10296	0.003	B	0.19148	0.024	T	0.47812	-0.9088	10	0.30078	T	0.28	-5.7553	8.5539	0.33469	0.196:0.2085:0.5955:0.0	.	789	Q09666	AHNK_HUMAN	V	789	ENSP00000367263:A789V	ENSP00000367263:A789V	A	-	2	0	AHNAK	62056099	0.000000	0.05858	0.525000	0.27900	0.053000	0.15095	-1.663000	0.01968	-0.209000	0.10156	-1.360000	0.01215	GCT		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	178	823	0	232	1	1	53	222	0	232	2		0	0	0	0	0	2	1	1	175	813	0	229	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62301544	62301544	+	Silent	SNP	G	G	A	rs117532364	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62301544G>A	ENST00000378024.4	-	5	619	c.345C>T	c.(343-345)agC>agT	p.S115S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			CATCATCCCCGCTCTGCAGAA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000378024.4	1	1	hg19	CCDS31584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	1	30	163	0	35	1	9.999999e-01	33	118	0	35	2		0	0	0	0	0	2	1	1	30	159	0	35	2								-3.311805	1	1	118178	7	37	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
AHNAK	79026	broad.mit.edu	37	11	62303437	62303437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62303437C>T	ENST00000378024.4	-	3	408	c.134G>A	c.(133-135)cGc>cAc	p.R45H	RP11-864I4.3_ENST00000544108.1_RNA|AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H|AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			CACCCCAGTGCGGGCCGCAGG	0.682000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076164	0.55646	.	.	ENSG00000124942	ENST00000530124;ENST00000257247;ENST00000533365;ENST00000378024;ENST00000530285;ENST00000528508;ENST00000531324	T;T;T;T;T;T;T	0.50548	1.51;1.51;1.51;0.74;1.51;1.51;1.51	5.36	5.36	0.76844	PDZ/DHR/GLGF (3);	0.111128	0.36303	U	0.002664	T	0.25082	0.0609	N	0.03608	-0.345	0.25316	N	0.989154	P;P	0.47545	0.887;0.897	B;B	0.42422	0.179;0.387	T	0.10800	-1.0614	10	0.54805	T	0.06	-8.3012	8.3138	0.32088	0.0:0.8318:0.0:0.1682	.	45;45	Q09666;A1A586	AHNK_HUMAN;.	H	45	ENSP00000433789:R45H;ENSP00000257247:R45H;ENSP00000433635:R45H;ENSP00000367263:R45H;ENSP00000433286:R45H;ENSP00000435357:R45H;ENSP00000436845:R45H	ENSP00000257247:R45H	R	-	2	0	AHNAK	62060013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.672000	0.46850	2.512000	0.84698	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	1	0	0	15	304	0	50	1	9.984313e-01	10	208	0	50	2		0	0	0	0	0	2	1	9.998489e-01	12	297	0	47	2								-3.147641	1	1	121408	1	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.570000	0.330000	1.000000	0.550000	0.595754	0.570000	0	4.300000e-01	7.400000e-01
EEF1G	1937	broad.mit.edu	37	11	62327638	62327638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62327638C>A	ENST00000329251.4	-	9	1188	c.1058G>T	c.(1057-1059)aGg>aTg	p.R353M	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.R403M	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma			16					GGCATTCTTCCTCAGCTTGTC	0.517000																								0							SO:0001583	missense			ENST00000329251.4	1	1	hg19	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461627	0.84425	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.29142	1.62;1.58	4.67	4.67	0.58626	Translation elongation factor EF1B, gamma chain, conserved (4);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	H	0.95645	3.7	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.987;0.993	D;D;D	0.73708	0.981;0.961;0.979	T	0.77890	-0.2419	10	0.87932	D	0	.	15.1667	0.72833	0.0:1.0:0.0:0.0	.	403;122;353	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	M	353;403;122	ENSP00000331901:R353M;ENSP00000367258:R403M	ENSP00000331901:R353M	R	-	2	0	EEF1G	62084214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.367000	0.79558	2.456000	0.83038	0.537000	0.68136	AGG		TCGA-IB-7651-01A-11D-2154-08	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	1	0	1	52	232	0	65	1	1	1495	4138	0	65	2		0	0	0	0	0	2	1	1	51	221	0	68	2								-3.203751	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EEF1G	1937	broad.mit.edu	37	11	62334931	62334931	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62334931G>T	ENST00000329251.4	-	6	722	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.P248T	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma			16					CGGAACTGGGGCTGGTTAATG	0.537000																								0							SO:0001583	missense			ENST00000329251.4	1	1	hg19	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719014	0.89205	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.34667	1.35;1.35	4.8	4.8	0.61643	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.93898	3.47	0.80722	D	1	D;P	0.60575	0.988;0.868	D;P	0.65573	0.936;0.817	T	0.77629	-0.2516	10	0.66056	D	0.02	.	15.7129	0.77644	0.0:0.0:1.0:0.0	.	248;198	B4DTG2;P26641	.;EF1G_HUMAN	T	198;248	ENSP00000331901:P198T;ENSP00000367258:P248T	ENSP00000331901:P198T	P	-	1	0	EEF1G	62091507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.392000	0.97252	2.380000	0.81148	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	1	0	1	20	71	0	26	1	1	633	4011	0	26	2		0	0	0	0	0	2	1	9.999976e-01	18	71	0	26	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
EML3	256364	broad.mit.edu	37	11	62373565	62373565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373565C>T	ENST00000394773.2	-	13	1933	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	EML3_ENST00000529309.1_Silent_p.G542G|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.G325G|EML3_ENST00000278845.4_Silent_p.G543G|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3			26					CCAACCCGGGCCCCCACTGTA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000394773.2	1	1	hg19	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054592	0.19907	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.25	3.26	0.37387	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	4	.	.	.	-19.5332	6.4573	0.21936	0.0:0.7179:0.1841:0.098	.	.	.	.	T	537	.	.	A	-	1	0	EML3	62130141	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	0.880000	0.28159	1.208000	0.43306	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	1	0	1	182	1000	0	166	1	9.999606e-01	10	69	0	166	2		0	0	0	0	0	2	1	1	169	966	0	162	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML3	256364	broad.mit.edu	37	11	62373584	62373584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373584C>T	ENST00000394773.2	-	13	1914	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	EML3_ENST00000529309.1_Missense_Mutation_p.R536H|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Missense_Mutation_p.R319H|EML3_ENST00000278845.4_Missense_Mutation_p.R537H|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3			26					TACCAGCCGGCGGTCCCGCCC	0.642000																								0							SO:0001583	missense			ENST00000394773.2	1	1	hg19	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463749	0.84425	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.31247	1.55;1.5;1.53;1.53;1.53	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.86028	2.79	0.58432	D	0.999998	D;P;D;D;D	0.89917	0.97;0.949;0.973;1.0;1.0	P;B;P;D;D	0.87578	0.637;0.312;0.55;0.991;0.998	T	0.66881	-0.5811	10	0.66056	D	0.02	-26.1227	16.3399	0.83079	0.0:1.0:0.0:0.0	.	536;536;319;537;508	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	H	536;537;319;508;536	ENSP00000378254:R536H;ENSP00000278845:R537H;ENSP00000433417:R319H;ENSP00000435064:R508H;ENSP00000434513:R536H	ENSP00000278845:R537H	R	-	2	0	EML3	62130160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.086000	0.76885	2.450000	0.82876	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	1	0	1	176	799	0	141	1	1	35	84	0	141	2		0	0	0	0	0	2	1	1	162	764	0	132	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML3	256364	broad.mit.edu	37	11	62376231	62376231	+	Missense_Mutation	SNP	C	C	T	rs149696913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62376231C>T	ENST00000394773.2	-	8	1283	c.976G>A	c.(976-978)Gct>Act	p.A326T	EML3_ENST00000529309.1_Missense_Mutation_p.A326T|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000531557.1_Missense_Mutation_p.A109T|EML3_ENST00000278845.4_Missense_Mutation_p.A327T|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3			26					TCCACTCCAGCTGTCTGTCCC	0.527000																								0							SO:0001583	missense			ENST00000394773.2	1	1	hg19	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.586654|4.586654	0.86851|0.86851	2.27E-4|2.27E-4	0.0|0.0	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.33438|.	1.5;1.46;1.41;1.47;1.41|.	5.55|5.55	5.55|5.55	0.83447|0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73892|0.73892	0.3645|0.3645	M|M	0.67700|0.67700	2.07|2.07	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;D;D|.	0.89917|.	1.0;1.0;0.936;0.997;0.997|.	D;D;P;D;D|.	0.91635|.	0.999;0.999;0.535;0.989;0.942|.	T|T	0.72377|0.72377	-0.4312|-0.4312	10|5	0.66056|.	D|.	0.02|.	-7.5773|-7.5773	17.0083|17.0083	0.86399|0.86399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326;326;109;327;298|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	T|N	326;327;109;298;326|320	ENSP00000378254:A326T;ENSP00000278845:A327T;ENSP00000433417:A109T;ENSP00000435064:A298T;ENSP00000434513:A326T|.	ENSP00000278845:A327T|.	A|S	-|-	1|2	0|0	EML3|EML3	62132807|62132807	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.571000|0.571000	0.35966|0.35966	5.539000|5.539000	0.67199|0.67199	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	1	0	1	82	429	0	103	1	1	31	100	0	103	2		0	0	0	0	0	2	1	1	80	419	0	100	2								-20.000000	1	1	121388	1	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B3GAT3	26229	broad.mit.edu	37	11	62384603	62384603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62384603G>A	ENST00000265471.5	-	3	701	c.474C>T	c.(472-474)gtC>gtT	p.V158V	B3GAT3_ENST00000531383.1_Silent_p.V158V|B3GAT3_ENST00000534026.1_Silent_p.V158V	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3			12					TCCGCTGCTCGACACCACGGG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000265471.5	1	1	hg19	CCDS8025.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	1	0	1	62	323	0	76	1	1	51	194	0	76	2		0	0	0	0	0	2	1	1	60	316	0	75	2								-3.155179	1	1	121410	8	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B3GAT3	26229	broad.mit.edu	37	11	62388054	62388054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62388054G>A	ENST00000265471.5	-	2	399	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	B3GAT3_ENST00000531383.1_Missense_Mutation_p.L58F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3			12					GGCCGTCGGAGTTCCGCTTGC	0.647000																								0							SO:0001583	missense			ENST00000265471.5	0	1	hg19	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499735	0.85176	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.66815	-0.2;-0.21;-0.23;0.77	5.53	5.53	0.82687	.	0.070269	0.64402	D	0.000016	T	0.75722	0.3888	L	0.58101	1.795	0.48288	D	0.999622	D;D;P	0.71674	0.998;0.998;0.949	D;D;P	0.78314	0.991;0.991;0.601	T	0.69658	-0.5086	10	0.09084	T	0.74	.	14.9659	0.71193	0.0:0.0:1.0:0.0	.	58;64;58	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	F	58;58;58;81	ENSP00000265471:L58F;ENSP00000431359:L58F;ENSP00000432474:L58F;ENSP00000432854:L81F	ENSP00000265471:L58F	L	-	1	0	B3GAT3	62144630	1.000000	0.71417	0.989000	0.46669	0.759000	0.43091	3.026000	0.49689	2.599000	0.87857	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	1	0	1	30	80	0	20	1	1	27	83	0	20	2		0	0	0	0	0	2	1	1	28	79	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM160A2	84067	broad.mit.edu	37	11	6238932	6238932	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6238932A>G	ENST00000449352.2	-	9	2147	c.1884T>C	c.(1882-1884)ggT>ggC	p.G628G	FAM160A2_ENST00000265978.4_Silent_p.G642G|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000524416.1_Silent_p.G628G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2			42					GGGGCAGGTGACCAGGGccct	0.667000																								0							SO:0001819	synonymous_variant			ENST00000449352.2	1	1	hg19	CCDS44530.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	1	0	0	40	148	0	34	1	9.999712e-01	27	36	0	34	2		0	0	0	0	0	2	1	1	40	143	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GANAB	23193	broad.mit.edu	37	11	62393376	62393376	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62393376A>G	ENST00000356638.3	-	24	2762	c.2746T>C	c.(2746-2748)Tcc>Ccc	p.S916P	GANAB_ENST00000534779.1_Missense_Mutation_p.S824P|GANAB_ENST00000346178.4_Missense_Mutation_p.S938P|GANAB_ENST00000540933.1_Missense_Mutation_p.S819P	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB			35				Miglitol(DB00491)	TGCTGGAAGGACAGGCGGCTT	0.512000													Melanoma(23;1005 1074 15747 18937)											0							SO:0001583	missense			ENST00000356638.3	1	1	hg19	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746685	0.30955	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88896	-2.38;-2.33;-2.44;-2.38	4.84	0.998	0.19857	.	0.571109	0.17907	N	0.157987	T	0.77705	0.4170	N	0.16790	0.44	0.29699	N	0.84028	B;B;B;B	0.23249	0.082;0.082;0.0;0.0	B;B;B;B	0.27262	0.078;0.078;0.002;0.001	T	0.70185	-0.4941	10	0.48119	T	0.1	-5.0023	6.0398	0.19728	0.3491:0.489:0.0:0.162	.	802;824;916;938	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	P	938;916;824;819	ENSP00000340466:S938P;ENSP00000349053:S916P;ENSP00000435306:S824P;ENSP00000442962:S819P	ENSP00000340466:S938P	S	-	1	0	GANAB	62149952	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.455000	0.35190	0.693000	0.31634	0.459000	0.35465	TCC		TCGA-IB-7651-01A-11D-2154-08	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	1	0	1	36	252	0	55	1	1	251	696	0	55	2		0	0	0	0	0	2	1	1	36	242	0	55	2								-15.855210	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999433	0.990000	1	9.900000e-01	1
FAM160A2	84067	broad.mit.edu	37	11	6239851	6239851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6239851C>A	ENST00000449352.2	-	8	1677	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2			42					GAGGCATGCTCTGGACGAGGT	0.607000																								0							SO:0001587	stop_gained			ENST00000449352.2	0	1	hg19	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	41	8.899205	0.98996	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.39	5.39	0.77823	.	0.096661	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-19.5313	18.3197	0.90234	0.0:1.0:0.0:0.0	.	.	.	.	X	472;397;472;472	.	ENSP00000265978:E472X	E	-	1	0	FAM160A2	6196427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.795000	0.96236	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	1	0	1	164	683	0	150	1	9.999989e-01	15	66	0	150	2		0	0	0	0	0	2	1	1	158	670	0	147	2								-3.494859	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GANAB	23193	broad.mit.edu	37	11	62400663	62400663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62400663C>A	ENST00000356638.3	-	7	727	c.711G>T	c.(709-711)aaG>aaT	p.K237N	GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000346178.4_Missense_Mutation_p.K259N|GANAB_ENST00000540933.1_Missense_Mutation_p.K140N	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB			35				Miglitol(DB00491)	CACCATACGGCTTGCTGTCAG	0.537000													Melanoma(23;1005 1074 15747 18937)											0							SO:0001583	missense			ENST00000356638.3	1	1	hg19	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364145	0.41902	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.90261	-2.62;-2.61;-1.95;-2.64	5.14	4.23	0.50019	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;P	0.71674	0.998;0.998;0.982;0.938	D;D;P;P	0.75484	0.986;0.986;0.82;0.878	D	0.94050	0.7317	10	0.87932	D	0	-28.5445	10.6238	0.45495	0.0:0.834:0.0:0.166	.	123;145;237;259	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	N	259;237;145;140	ENSP00000340466:K259N;ENSP00000349053:K237N;ENSP00000435306:K145N;ENSP00000442962:K140N	ENSP00000340466:K259N	K	-	3	2	GANAB	62157239	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	0.990000	0.29642	0.763000	0.33175	-1.151000	0.01829	AAG		TCGA-IB-7651-01A-11D-2154-08	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	1	0	1	125	480	0	113	1	1	223	394	0	113	2		0	0	0	0	0	2	1	1	121	466	0	110	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS5	80789	broad.mit.edu	37	11	62416125	62416125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62416125G>A	ENST00000330574.2	-	2	1479	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5			36					GTTTTTGAGCGCATCTAAAAA	0.587000																								0							SO:0001583	missense			ENST00000330574.2	1	1	hg19	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551340	0.27739	0.0	1.16E-4	ENSG00000185085	ENST00000330574	.	.	.	4.87	3.96	0.45880	.	0.059338	0.64402	D	0.000003	T	0.34513	0.0900	N	0.14661	0.345	0.34055	D	0.65659	B	0.15141	0.012	B	0.06405	0.002	T	0.43621	-0.9380	9	0.54805	T	0.06	.	10.9735	0.47452	0.0909:0.0:0.9091:0.0	.	476	Q6P9B9	INT5_HUMAN	V	476	.	ENSP00000327889:A476V	A	-	2	0	INTS5	62172701	1.000000	0.71417	0.859000	0.33776	0.547000	0.35210	3.528000	0.53524	1.287000	0.44583	-0.140000	0.14226	GCG		TCGA-IB-7651-01A-11D-2154-08	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	1	0	1	145	643	1	128	1	9.997053e-01	27	49	1	128	4		0	0	0	0	0	2	1	1	143	635	1	125	21								-20.000000	1	1	121412	7	42	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS5	80789	broad.mit.edu	37	11	62417038	62417038	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417038C>T	ENST00000330574.2	-	2	566	c.514G>A	c.(514-516)Gct>Act	p.A172T	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5			36					TCATTAAGAGCGCCAGTAGCG	0.567000																								0							SO:0001583	missense			ENST00000330574.2	1	1	hg19	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355687	0.41700	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.67	3.53	0.40419	.	0.190185	0.42294	D	0.000735	T	0.22044	0.0531	N	0.08118	0	0.30478	N	0.772596	B	0.09022	0.002	B	0.01281	0.0	T	0.11916	-1.0568	9	0.62326	D	0.03	.	8.3625	0.32367	0.7958:0.2042:0.0:0.0	.	172	Q6P9B9	INT5_HUMAN	T	172	.	ENSP00000327889:A172T	A	-	1	0	INTS5	62173614	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.979000	0.49313	0.826000	0.34661	-0.275000	0.10095	GCT		TCGA-IB-7651-01A-11D-2154-08	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	1	0	1	50	227	0	70	1	9.999704e-01	22	52	0	70	2		0	0	0	0	0	2	1	1	50	224	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM160A2	84067	broad.mit.edu	37	11	6244424	6244424	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6244424T>C	ENST00000449352.2	-	4	1085	c.822A>G	c.(820-822)cgA>cgG	p.R274R	FAM160A2_ENST00000265978.4_Silent_p.R274R|FAM160A2_ENST00000524416.1_Silent_p.R274R			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2			42					CCTCAATCTTTCGAGGCAGTG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000449352.2	1	1	hg19	CCDS44530.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	1	0	1	201	689	0	226	1	9.999998e-01	30	46	0	226	2		0	0	0	0	0	2	1	1	200	677	0	218	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBXN1	51035	broad.mit.edu	37	11	62444433	62444433	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62444433G>A	ENST00000301935.5	-	8	862	c.696C>T	c.(694-696)gcC>gcT	p.A232A	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Silent_p.A228A|UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Silent_p.A232A			Q04323	UBXN1_HUMAN	UBX domain protein 1			17					GCTGTTCCCGGGCCCGGAACG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000301935.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	1	0	1	52	496	0	113	1	1	58	562	0	113	2		0	0	0	0	0	2	1	1	50	490	0	111	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.850000	1.000000	1.000000	0.986452	0.990000	1	9.800000e-01	1
FAM160A2	84067	broad.mit.edu	37	11	6245399	6245399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6245399G>A	ENST00000449352.2	-	3	481	c.218C>T	c.(217-219)aCt>aTt	p.T73I	FAM160A2_ENST00000265978.4_Missense_Mutation_p.T73I|FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2			42					CATCTGGTAAGTGTGGTTGCG	0.622000																								0							SO:0001583	missense			ENST00000449352.2	1	1	hg19	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332681	0.41297	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.14391	3.13;3.13;2.51	4.85	2.77	0.32553	.	0.127864	0.51477	D	0.000100	T	0.11665	0.0284	L	0.31664	0.95	0.41178	D	0.986217	B;B;P	0.41978	0.215;0.073;0.767	B;B;B	0.44044	0.146;0.103;0.439	T	0.08868	-1.0701	10	0.42905	T	0.14	-6.3832	8.6136	0.33817	0.0935:0.0:0.749:0.1576	.	73;73;73	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	I	73	ENSP00000416918:T73I;ENSP00000265978:T73I;ENSP00000431773:T73I	ENSP00000265978:T73I	T	-	2	0	FAM160A2	6201975	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	1.755000	0.38379	1.230000	0.43646	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	1	0	1	59	246	0	58	1	9.996973e-01	24	28	0	58	2		0	0	0	0	0	2	1	1	59	240	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPUL2	221092	broad.mit.edu	37	11	62482812	62482812	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62482812G>T	ENST00000301785.5	-	14	2395	c.2203C>A	c.(2203-2205)Cga>Aga	p.R735R	HNRNPUL2-BSCL2_ENST00000403734.2_Intron	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2			20					CTGTAGTATCGGTCTCTGTCC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000301785.5	1	1	hg19	CCDS41659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	1	0	1	97	411	0	112	1	1	170	616	0	112	2		0	0	0	0	0	2	1	1	96	409	0	111	2								-2.857869	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPUL2	221092	broad.mit.edu	37	11	62491420	62491420	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62491420C>A	ENST00000301785.5	-	3	909	c.717G>T	c.(715-717)gaG>gaT	p.E239D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E239D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2			20					GATCCTCCTCCTCATCTTTTG	0.393000																								0							SO:0001583	missense			ENST00000301785.5	1	1	hg19	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621621	0.28889	.	.	ENSG00000214753	ENST00000301785	T	0.73047	-0.71	5.3	2.25	0.28309	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.218960	0.41396	D	0.000883	T	0.43809	0.1264	N	0.13198	0.31	0.30227	N	0.796265	P	0.38504	0.634	B	0.35510	0.204	T	0.37979	-0.9682	10	0.18276	T	0.48	-18.6698	4.4206	0.11479	0.0:0.5427:0.1645:0.2928	.	239	Q1KMD3	HNRL2_HUMAN	D	239	ENSP00000301785:E239D	ENSP00000301785:E239D	E	-	3	2	HNRNPUL2	62247996	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.207000	0.17395	0.743000	0.32719	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	0	0	0	25	631	0	124	1	9.999998e-01	20	633	0	124	2		0	0	0	0	0	2	1	9.999999e-01	24	653	0	126	2								-3.022982	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.450000	0.300000	1.000000	0.450000	0.483833	0.450000	0	3.700000e-01	5.700000e-01
TAF6L	10629	broad.mit.edu	37	11	62545792	62545792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62545792G>A	ENST00000294168.3	+	5	622	c.421G>A	c.(421-423)Gca>Aca	p.A141T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa			16					AGGGAACCTGGCACCTCAAGG	0.542000																								0							SO:0001583	missense			ENST00000294168.3	1	1	hg19	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362314	0.61403	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.44083	0.93;0.97	4.94	4.94	0.65067	.	0.063502	0.64402	D	0.000013	T	0.23094	0.0558	N	0.08118	0	0.80722	D	1	B;B	0.23937	0.016;0.094	B;B	0.15870	0.01;0.014	T	0.08289	-1.0729	10	0.15499	T	0.54	-1.7793	15.6975	0.77512	0.0:0.0:1.0:0.0	.	141;141	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	T	141	ENSP00000294168:A141T;ENSP00000434662:A141T	ENSP00000294168:A141T	A	+	1	0	TAF6L	62302368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.559000	0.90708	2.570000	0.86706	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	1	0	1	33	201	0	49	1	9.974589e-01	20	39	0	49	2		0	0	0	0	0	2	1	1	31	193	0	49	2								-16.517940	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999881	0.990000	1	9.900000e-01	1
TAF6L	10629	broad.mit.edu	37	11	62549675	62549675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549675C>T	ENST00000294168.3	+	8	898	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa			16					GTGCTTGGGGCCCTATGTCCG	0.597000																								0							SO:0001583	missense			ENST00000294168.3	1	1	hg19	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087988	0.36855	.	.	ENSG00000162227	ENST00000294168	T	0.68331	-0.32	5.4	5.4	0.78164	.	0.140716	0.49916	D	0.000139	T	0.49795	0.1578	N	0.24115	0.695	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.43147	-0.9409	10	0.30078	T	0.28	-26.0172	9.9712	0.41754	0.0:0.9109:0.0:0.0891	.	233	Q9Y6J9	TAF6L_HUMAN	S	233	ENSP00000294168:P233S	ENSP00000294168:P233S	P	+	1	0	TAF6L	62306251	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.654000	0.54453	2.813000	0.96785	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	1	0	1	101	464	0	126	1	9.955970e-01	8	32	0	126	2		0	0	0	0	0	2	1	1	100	455	0	126	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF6L	10629	broad.mit.edu	37	11	62549768	62549768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549768C>T	ENST00000294168.3	+	8	991	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa			16					CTGGACTCTGCGGGATGGGGC	0.617000																								0							SO:0001583	missense			ENST00000294168.3	1	1	hg19	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945740	0.73672	.	.	ENSG00000162227	ENST00000294168	T	0.72505	-0.66	5.4	2.4	0.29515	Domain of unknown function DUF1546 (1);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85562	0.1228	10	0.87932	D	0	-13.2784	12.6043	0.56514	0.4334:0.5666:0.0:0.0	.	264	Q9Y6J9	TAF6L_HUMAN	W	264	ENSP00000294168:R264W	ENSP00000294168:R264W	R	+	1	2	TAF6L	62306344	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	1.261000	0.32980	0.352000	0.24053	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	1	0	1	113	486	0	142	1	9.999402e-01	15	47	0	142	2		0	0	0	0	0	2	1	1	112	471	0	138	2								-3.270772	1	0	121412	1	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B			4					GTTGGGTCACGCCTTTCCCAT	0.582000																								0							SO:0001583	missense			ENST00000333449.4	1	1	hg19	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011836	0.35511	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	0.137	0.14787	.	0.584731	0.18530	N	0.138524	T	0.26011	0.0634	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.12604	-1.0541	9	0.38643	T	0.18	.	5.2072	0.15297	0.3189:0.1704:0.5107:0.0	.	215	Q7Z7N9	T179B_HUMAN	H	215	.	ENSP00000333697:R215H	R	+	2	0	TMEM179B	62314079	0.000000	0.05858	0.003000	0.11579	0.841000	0.47740	-0.382000	0.07408	-0.216000	0.10048	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	1	0	1	67	235	0	60	1	1	87	350	0	60	2		0	0	0	0	0	2	1	1	66	230	0	59	2								-20.000000	1	1	121412	4	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR74	54663	broad.mit.edu	37	11	62601979	62601979	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62601979T>C	ENST00000525239.1	-	8	1176	c.639A>G	c.(637-639)gcA>gcG	p.A213A	STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000540620.1_5'Flank|WDR74_ENST00000529106.1_Silent_p.A213A|WDR74_ENST00000525752.1_Silent_p.A156A|RP11-727F15.9_ENST00000535867.1_RNA|STX5_ENST00000394690.1_5'Flank|WDR74_ENST00000278856.4_Silent_p.A213A|STX5_ENST00000377897.4_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000311713.7_Silent_p.A213A|STX5_ENST00000541317.1_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74			8					GCTGGGGGGATGCTGGATCAT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000525239.1	0	1	hg19	CCDS44630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	0	0	0	8	217	0	56	1	9.895545e-01	6	218	0	56	2		0	0	0	0	0	2	1	9.878869e-01	8	208	0	56	2								-10.119310	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.440000	0.200000	1.000000	0.410000	0.478980	0.440000	0	3.000000e-01	6.300000e-01
CNGA4	1262	broad.mit.edu	37	11	6261612	6261612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6261612C>T	ENST00000379936.2	+	4	703	c.588C>T	c.(586-588)ttC>ttT	p.F196F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4			40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			ACCTGGGCTTCGGGCGTGACG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000379936.2	1	1	hg19	CCDS31408.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	1	0	0	145	654	0	140	0	0	0	1	0	140	2		0	0	0	0	0	2	1	1	141	650	0	138	2								-3.267121	1	1	121396	3	37	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC22A6	9356	broad.mit.edu	37	11	62751503	62751503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62751503G>A	ENST00000377871.3	-	2	652	c.386C>T	c.(385-387)tCt>tTt	p.S129F	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6			36				Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCCCTGTGAGAGCACACAAG	0.622000																								0							SO:0001583	missense			ENST00000377871.3	0	1	hg19	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476899	0.63849	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.52	2.18	0.27775	Major facilitator superfamily domain (1);	0.328214	0.31531	N	0.007482	D	0.85965	0.5820	M	0.79805	2.47	0.24323	N	0.995039	D;D;D;D	0.57571	0.96;0.98;0.967;0.98	P;P;P;P	0.62491	0.844;0.844;0.903;0.844	T	0.75442	-0.3316	9	.	.	.	.	7.2314	0.26045	0.0:0.222:0.365:0.413	.	129;129;129;129	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	F	129;108;129;129;129	ENSP00000353597:S129F;ENSP00000367102:S129F;ENSP00000396401:S129F;ENSP00000404441:S129F	.	S	-	2	0	SLC22A6	62508079	0.000000	0.05858	0.838000	0.33150	0.996000	0.88848	0.252000	0.18278	1.264000	0.44198	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	1	0	1	16	110	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999394e-01	16	106	0	23	2								-19.999990	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.900000	1.000000	1.000000	0.994428	0.990000	1	9.900000e-01	1
SLC22A8	9376	broad.mit.edu	37	11	62760994	62760994	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62760994G>T	ENST00000336232.2	-	10	1566	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	SLC22A8_ENST00000535878.1_Silent_p.I354I|SLC22A8_ENST00000545207.1_Silent_p.I386I|SLC22A8_ENST00000430500.2_Silent_p.I477I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8			28				Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGATCCCGTAGATGATATTGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000336232.2	1	1	hg19	CCDS8042.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	1	0	1	96	409	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	95	403	0	112	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCKBR	887	broad.mit.edu	37	11	6291375	6291375	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291375G>T	ENST00000334619.2	+	3	654	c.461G>T	c.(460-462)aGc>aTc	p.S154I	CCKBR_ENST00000525462.1_Missense_Mutation_p.S154I|CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I|CCKBR_ENST00000525014.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor			61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Pentagastrin(DB00183)	GAGCGGTACAGCGCCATCTGC	0.602000																								0							SO:0001583	missense			ENST00000334619.2	1	1	hg19	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489164	0.84962	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.33654	2.27;1.4;2.27	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	N	0.20328	0.56	0.58432	D	0.999995	P;D;D	0.61697	0.944;0.99;0.983	P;D;D	0.67900	0.792;0.923;0.954	T	0.28396	-1.0045	10	0.32370	T	0.25	.	16.5922	0.84769	0.0:0.0:1.0:0.0	.	154;88;154	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	I	154;70;154	ENSP00000335544:S154I;ENSP00000432079:S70I;ENSP00000435534:S154I	ENSP00000335544:S154I	S	+	2	0	CCKBR	6247951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.505000	0.84491	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	1	0	1	62	268	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1	62	267	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCKBR	887	broad.mit.edu	37	11	6292613	6292613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6292613G>A	ENST00000334619.2	+	5	1377	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	CCKBR_ENST00000525462.1_Missense_Mutation_p.R464H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor			61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Pentagastrin(DB00183)	TTCATGCACCGTCGCTTTCGC	0.647000																								0							SO:0001583	missense			ENST00000334619.2	1	1	hg19	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618093	0.66787	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.39592	1.07;1.07;1.07	5.24	5.24	0.73138	.	0.320210	0.28996	N	0.013466	T	0.50188	0.1601	L	0.34521	1.04	0.32301	N	0.565033	D;D	0.89917	0.999;1.0	D;D	0.69654	0.965;0.943	T	0.59726	-0.7400	10	0.62326	D	0.03	.	10.9615	0.47387	0.0865:0.0:0.9135:0.0	.	464;395	P32239-2;P32239	.;GASR_HUMAN	H	395;311;464	ENSP00000335544:R395H;ENSP00000432079:R311H;ENSP00000435534:R464H	ENSP00000335544:R395H	R	+	2	0	CCKBR	6249189	0.012000	0.17670	0.999000	0.59377	0.992000	0.81027	0.735000	0.26115	2.425000	0.82216	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	1	0	1	70	629	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	70	617	0	109	2								-19.892120	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.930000	1.000000	1.000000	0.996287	0.990000	1	9.900000e-01	1
HRASLS5	117245	broad.mit.edu	37	11	63257730	63257730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63257730C>T	ENST00000301790.4	-	2	413	c.254G>A	c.(253-255)aGa>aAa	p.R85K	HRASLS5_ENST00000540857.1_Missense_Mutation_p.R75K|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R85K			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5			14					CTGGATGCTTCTGCCCTGTTC	0.493000																								0							SO:0001583	missense			ENST00000301790.4	1	1	hg19	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785824	0.31593	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.28666	1.6;2.1;1.61	3.75	-1.76	0.08006	.	5.966510	0.00357	N	0.000021	T	0.22551	0.0544	L	0.32530	0.975	0.09310	N	1	B;B;B	0.33103	0.397;0.017;0.231	B;B;B	0.34722	0.188;0.005;0.058	T	0.15263	-1.0443	10	0.66056	D	0.02	-24.3145	0.7116	0.00925	0.1686:0.3593:0.1649:0.3072	.	85;75;85	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	K	75;85;85	ENSP00000444809:R75K;ENSP00000443873:R85K;ENSP00000301790:R85K	ENSP00000301790:R85K	R	-	2	0	HRASLS5	63014306	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.857000	0.04286	-0.330000	0.08514	-0.140000	0.14226	AGA		TCGA-IB-7651-01A-11D-2154-08	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	1	0	1	347	1497	0	348	0	0	0	1	0	348	2		0	0	0	0	0	2	1	1	338	1473	0	345	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGALS12	85329	broad.mit.edu	37	11	63283034	63283034	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63283034G>A	ENST00000394618.3	+	8	1004		c.e8-1		LGALS12_ENST00000415491.2_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000255684.5_Splice_Site	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12			16					GCTTCCTGCAGTTTTACTGTG	0.622000																								0							SO:0001630	splice_region_variant			ENST00000394618.3	1	1	hg19	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648764	0.67358	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5052	0.75731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGALS12	63039610	1.000000	0.71417	0.660000	0.29694	0.425000	0.31504	5.322000	0.65852	2.739000	0.93911	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	1	0	1	38	336	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	37	327	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.870000	1.000000	1.000000	0.990956	0.990000	1	9.900000e-01	1
RARRES3	5920	broad.mit.edu	37	11	63307000	63307000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307000C>T	ENST00000255688.3	+	2	70	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	RARRES3_ENST00000439013.2_Missense_Mutation_p.P8S|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.P8S	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3			6					ACACCAAGAGCCCAAACCTGG	0.552000																								0							SO:0001583	missense			ENST00000255688.3	0	1	hg19	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.674977	0.47781	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21932	1.98;1.98;1.98	4.35	3.43	0.39272	.	0.159898	0.40302	N	0.001137	T	0.49321	0.1550	M	0.88704	2.975	0.09310	N	1	D	0.54772	0.968	D	0.68943	0.961	T	0.45833	-0.9234	10	0.87932	D	0	.	11.7062	0.51599	0.178:0.822:0.0:0.0	.	8	Q9UL19	TIG3_HUMAN	S	8	ENSP00000402943:P8S;ENSP00000255688:P8S;ENSP00000346431:P8S	ENSP00000255688:P8S	P	+	1	0	RARRES3	63063576	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	1.464000	0.35288	1.181000	0.42912	0.563000	0.77884	CCC		TCGA-IB-7651-01A-11D-2154-08	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	0	0	0	10	373	0	97	1	9.994203e-01	8	507	0	97	2		0	0	0	0	0	2	1	9.966293e-01	10	365	0	96	2								-2.994306	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.320000	0.160000	1.000000	0.310000	0.358692	0.320000	0	2.300000e-01	4.500000e-01
RARRES3	5920	broad.mit.edu	37	11	63307081	63307081	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307081C>A	ENST00000255688.3	+	2	151	c.103C>A	c.(103-105)Cat>Aat	p.H35N	RARRES3_ENST00000439013.2_Missense_Mutation_p.H35N|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3			6					CTACGTGATCCATCTGGCTCC	0.473000																								0							SO:0001583	missense			ENST00000255688.3	1	1	hg19	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084429	0.55861	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.43294	0.95;0.95;0.95	4.36	4.36	0.52297	.	0.161271	0.39341	N	0.001381	T	0.60843	0.2300	M	0.74546	2.27	0.27514	N	0.951613	D	0.76494	0.999	D	0.97110	1.0	T	0.54794	-0.8240	10	0.56958	D	0.05	.	9.9419	0.41585	0.2027:0.7973:0.0:0.0	.	35	Q9UL19	TIG3_HUMAN	N	35	ENSP00000402943:H35N;ENSP00000255688:H35N;ENSP00000346431:H35N	ENSP00000255688:H35N	H	+	1	0	RARRES3	63063657	0.997000	0.39634	0.954000	0.39281	0.251000	0.25915	0.767000	0.26575	2.438000	0.82558	0.563000	0.77884	CAT		TCGA-IB-7651-01A-11D-2154-08	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	1	0	1	85	321	0	82	1	1	62	326	0	82	2		0	0	0	0	0	2	1	1	84	315	0	81	2								-3.398715	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RARRES3	5920	broad.mit.edu	37	11	63312164	63312164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312164C>T	ENST00000255688.3	+	3	238	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RARRES3_ENST00000439013.2_Missense_Mutation_p.R64C|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3			6					GAAACGGGAGCGCCTGGAAGA	0.582000																								0							SO:0001583	missense			ENST00000255688.3	1	1	hg19	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869850	0.51588	0.0	1.2E-4	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21543	2.0;2.0;2.0	4.29	0.21	0.15231	NC (1);	1.229820	0.05716	N	0.596757	T	0.21921	0.0528	M	0.62723	1.935	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.37174	-0.9717	10	0.66056	D	0.02	.	4.084	0.09939	0.2822:0.4992:0.137:0.0816	.	64	Q9UL19	TIG3_HUMAN	C	64	ENSP00000402943:R64C;ENSP00000255688:R64C;ENSP00000346431:R64C	ENSP00000255688:R64C	R	+	1	0	RARRES3	63068740	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.061000	0.11693	0.054000	0.16065	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	1	0	1	90	722	0	159	1	1	53	576	0	159	2		0	0	0	0	0	2	1	1	87	707	0	156	2								-20.000000	1	0	120934	16	45	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999836	0.990000	1	9.900000e-01	1
RARRES3	5920	broad.mit.edu	37	11	63312262	63312262	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312262G>A	ENST00000255688.3	+	3	336	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RARRES3_ENST00000439013.2_Silent_p.A96A|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.A96A	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3			6					TCAGTTCTGCGAAGGAGATGG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000255688.3	1	1	hg19	CCDS41662.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	1	0	1	100	482	0	122	1	1	55	427	0	122	2		0	0	0	0	0	2	1	1	100	479	0	120	2								-20.000000	1	0	120980	11	43	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRASLS2	54979	broad.mit.edu	37	11	63327622	63327622	+	Missense_Mutation	SNP	C	C	T	rs151240711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63327622C>T	ENST00000255695.1	-	2	111	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2			6					ATAGCCAAAGCGAGAAATCTC	0.502000																								0							SO:0001583	missense			ENST00000255695.1	1	1	hg19	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625248	0.87560	0.0	1.16E-4	ENSG00000133328	ENST00000255695	T	0.45276	0.9	4.86	-0.381	0.12485	.	0.194727	0.29253	U	0.012692	T	0.57272	0.2042	M	0.89163	3.01	0.09310	N	1	D	0.69078	0.997	D	0.63957	0.92	T	0.49790	-0.8902	10	0.54805	T	0.06	-1.4955	2.6373	0.04961	0.132:0.4194:0.2856:0.1631	.	18	Q9NWW9	HRSL2_HUMAN	H	18	ENSP00000255695:R18H	ENSP00000255695:R18H	R	-	2	0	HRASLS2	63084198	0.098000	0.21812	0.000000	0.03702	0.886000	0.51366	1.077000	0.30741	-0.225000	0.09913	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	1	0	1	186	847	0	282	1	9.874666e-01	18	15	0	282	2		0	0	0	0	0	2	1	1	184	838	0	280	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCDBP	112464	broad.mit.edu	37	11	6340679	6340679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6340679T>C	ENST00000303927.3	-	2	670	c.500A>G	c.(499-501)gAc>gGc	p.D167G	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.D199G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein			9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			CGGCTCCTCGTCCGAGCTCTC	0.692000																								0							SO:0001583	missense			ENST00000303927.3	1	1	hg19	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311230	0.81358	0.0	1.16E-4	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.62498	0.02;0.02	5.08	5.08	0.68730	.	0.056346	0.64402	D	0.000002	T	0.64159	0.2573	L	0.47716	1.5	0.29727	N	0.838205	P	0.43094	0.799	P	0.49829	0.623	T	0.66712	-0.5854	10	0.87932	D	0	-24.4683	11.2449	0.48991	0.0:0.0:0.0:1.0	.	167	Q969G5	PRDBP_HUMAN	G	167;199	ENSP00000307292:D167G;ENSP00000432047:D199G	ENSP00000307292:D167G	D	-	2	0	PRKCDBP	6297255	0.944000	0.32072	0.601000	0.28877	0.976000	0.68499	2.835000	0.48175	1.920000	0.55613	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	1	0	1	34	229	0	42	1	1	110	382	0	42	2		0	0	0	0	0	2	1	1	34	225	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999582	0.990000	1	9.900000e-01	1
RTN3	10313	broad.mit.edu	37	11	63487245	63487245	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487245C>A	ENST00000377819.5	+	3	1425	c.1271C>A	c.(1270-1272)tCt>tAt	p.S424Y	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3			20					GTACCTGACTCTTTGAATTCC	0.423000																								0							SO:0001583	missense			ENST00000377819.5	1	1	hg19	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.750587	0.00086	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.19532	2.14;2.14;2.14	5.85	-11.7	0.00046	.	3.215830	0.00741	N	0.001011	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17653	-1.0362	10	0.02654	T	1	19.0572	9.1785	0.37127	0.4456:0.3475:0.2069:0.0	.	312;424;405	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	Y	424;405;312	ENSP00000367050:S424Y;ENSP00000344106:S405Y;ENSP00000442733:S312Y	ENSP00000344106:S405Y	S	+	2	0	RTN3	63243821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.396000	0.02513	-2.885000	0.00317	-0.868000	0.02995	TCT		TCGA-IB-7651-01A-11D-2154-08	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1	65	314	0	74	0	3.038298e-02	1	1	0	74	2		0	0	0	0	0	2	1	1	65	309	0	74	2								-3.358424	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTN3	10313	broad.mit.edu	37	11	63487781	63487781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487781C>T	ENST00000377819.5	+	3	1961	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3			20					TCCTGAAAAGCCTATTACTAC	0.403000																								0							SO:0001583	missense			ENST00000377819.5	1	1	hg19	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389613	0.25118	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.22336	1.97;1.97;1.96	5.77	3.86	0.44501	.	2.195500	0.01661	N	0.025135	T	0.14184	0.0343	N	0.14661	0.345	0.19775	N	0.99995	B;B;B	0.32753	0.383;0.264;0.383	B;B;B	0.26094	0.066;0.03;0.066	T	0.17258	-1.0375	10	0.30078	T	0.28	-1.5901	8.5939	0.33703	0.0:0.7584:0.1569:0.0846	.	491;603;584	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	S	603;584;491	ENSP00000367050:P603S;ENSP00000344106:P584S;ENSP00000442733:P491S	ENSP00000344106:P584S	P	+	1	0	RTN3	63244357	0.000000	0.05858	0.295000	0.24960	0.138000	0.21146	0.426000	0.21363	1.549000	0.49425	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1	89	430	0	120	0	1.406586e-01	1	3	0	120	2		0	0	0	0	0	2	1	1	88	423	0	119	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTN3	10313	broad.mit.edu	37	11	63517644	63517644	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63517644G>T	ENST00000377819.5	+	4	2866	c.2712G>T	c.(2710-2712)caG>caT	p.Q904H	RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H|RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H|RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3			20					AAGCTGTACAGAAGTCAGAAG	0.438000																								0							SO:0001583	missense			ENST00000377819.5	1	1	hg19	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754684	0.69648	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000542238;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981;ENST00000354497	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.1	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.68593	2.085	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.981;0.996;0.999;0.986	T	0.65043	-0.6264	10	0.59425	D	0.04	-7.2178	10.9225	0.47174	0.0923:0.0:0.9077:0.0	.	108;792;904;108;108;885;127	B7Z4M0;F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;.;RTN3_HUMAN;.;.;.;.	H	108;127;134;904;885;792;108;108	ENSP00000340903:Q108H;ENSP00000348279:Q127H;ENSP00000437971:Q134H;ENSP00000367050:Q904H;ENSP00000344106:Q885H;ENSP00000442733:Q792H;ENSP00000440874:Q108H;ENSP00000346492:Q108H	ENSP00000344106:Q885H	Q	+	3	2	RTN3	63274220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.875000	0.63072	2.538000	0.85594	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1	20	76	0	21	1	1	173	501	0	21	2		0	0	0	0	0	2	1	9.999977e-01	20	75	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
C11orf84	144097	broad.mit.edu	37	11	63585407	63585407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63585407C>T	ENST00000294244.4	+	2	557	c.258C>T	c.(256-258)agC>agT	p.S86S		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84			8					CAGGAGGCAGCGGGCGGGCAC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000294244.4	1	1	hg19	CCDS31594.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	1	0	1	37	170	0	27	1	9.999990e-01	18	84	0	27	2		0	0	0	0	0	2	1	1	34	164	0	27	2								-3.438749	1	1	121402	2	31	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C11orf84	144097	broad.mit.edu	37	11	63586402	63586402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63586402G>A	ENST00000294244.4	+	5	1161	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84			8					CAGGGGCCCAGACAGCAAGGA	0.642000																								0							SO:0001583	missense			ENST00000294244.4	1	1	hg19	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172089	0.57584	.	.	ENSG00000168005	ENST00000294244;ENST00000540893	T	0.50277	0.75	4.99	2.06	0.26882	.	1.012140	0.07893	N	0.971511	T	0.33411	0.0862	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.87932	D	0	-8.6044	6.4486	0.21890	0.3034:0.0:0.6966:0.0	.	288	Q9BUA3	CK084_HUMAN	N	288;63	ENSP00000294244:D288N	ENSP00000294244:D288N	D	+	1	0	C11orf84	63342978	0.439000	0.25610	0.007000	0.13788	0.923000	0.55619	0.965000	0.29319	0.615000	0.30124	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	1	0	1	94	337	0	67	1	1	21	78	0	67	2		0	0	0	0	0	2	1	1	92	332	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARK2	2011	broad.mit.edu	37	11	63667527	63667527	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63667527T>C	ENST00000509502.2	+	8	1077	c.614T>C	c.(613-615)gTt>gCt	p.V205A	MARK2_ENST00000413835.2_Missense_Mutation_p.V238A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000402010.2_Missense_Mutation_p.V238A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2			33					AGCCTAGGAGTTATCCTCTAT	0.507000																								0							SO:0001583	missense			ENST00000509502.2	1	1	hg19	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	t	29.0	4.966610	0.92855	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.986;0.999;0.994;0.999;0.998	T	0.57266	-0.7841	10	0.87932	D	0	.	14.7005	0.69152	0.0:0.0:0.0:1.0	.	205;205;238;238;238;238	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	A	238;238;238;238;205;238;238;238;238;205;205;205;205	ENSP00000385751:V238A;ENSP00000326632:V238A;ENSP00000367040:V238A;ENSP00000389184:V238A;ENSP00000367041:V205A;ENSP00000425765:V238A;ENSP00000355091:V238A;ENSP00000294247:V238A;ENSP00000423974:V205A;ENSP00000421075:V205A;ENSP00000386128:V205A;ENSP00000415494:V205A	ENSP00000326632:V238A	V	+	2	0	MARK2	63424103	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.865000	0.87049	2.301000	0.77427	0.524000	0.50904	GTT		TCGA-IB-7651-01A-11D-2154-08	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	1	0	1	183	794	0	212	1	1	32	90	0	212	2	1	1	236	1166	1	1485	6	1	1	177	772	0	211	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAA40	79829	broad.mit.edu	37	11	63720001	63720001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63720001G>A	ENST00000377793.4	+	5	475	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Missense_Mutation_p.R104Q|NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q|NAA40_ENST00000536939.1_3'UTR	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit			5					TCTCACTTCCGGTTTGACGTG	0.577000																								0							SO:0001583	missense			ENST00000377793.4	1	1	hg19	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	37	6.029838	0.97216	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.23754	1.89;1.89;1.89	5.72	5.72	0.89469	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70934	-0.4737	10	0.62326	D	0.03	-15.2497	18.6393	0.91389	0.0:0.0:1.0:0.0	.	85;125	B4DU10;Q86UY6	.;NAA40_HUMAN	Q	125;85;104	ENSP00000367024:R125Q;ENSP00000407578:R85Q;ENSP00000442055:R104Q	ENSP00000367024:R125Q	R	+	2	0	NAA40	63476577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.514000	0.98013	2.692000	0.91855	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	1	0	1	56	275	0	66	1	9.954664e-01	17	26	0	66	2		0	0	0	0	0	2	1	1	55	272	0	65	2								-3.005262	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAA40	79829	broad.mit.edu	37	11	63721914	63721914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63721914C>T	ENST00000377793.4	+	8	778	c.677C>T	c.(676-678)tCc>tTc	p.S226F	NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000542163.1_Missense_Mutation_p.S205F|NAA40_ENST00000456907.2_Missense_Mutation_p.S186F	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit			5					AGCCATCACTCCCACGCGGGT	0.562000																								0							SO:0001583	missense			ENST00000377793.4	1	1	hg19	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401041	0.62288	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	4.68	4.68	0.58851	.	0.421413	0.28555	N	0.014933	T	0.41696	0.1170	N	0.14661	0.345	0.50813	D	0.999892	B;B	0.32693	0.38;0.38	B;B	0.28011	0.085;0.085	T	0.50039	-0.8874	9	0.72032	D	0.01	-13.045	16.5473	0.84450	0.0:1.0:0.0:0.0	.	186;226	B4DU10;Q86UY6	.;NAA40_HUMAN	F	226;186;113;205	.	ENSP00000367024:S226F	S	+	2	0	NAA40	63478490	1.000000	0.71417	0.991000	0.47740	0.610000	0.37248	3.430000	0.52807	2.429000	0.82318	0.555000	0.69702	TCC		TCGA-IB-7651-01A-11D-2154-08	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	1	0	1	57	236	0	88	1	9.998690e-01	20	38	0	88	2		0	0	0	0	0	2	1	1	56	229	0	86	2								-3.211039	1	1	121410	2	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MACROD1	28992	broad.mit.edu	37	11	63782725	63782725	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63782725G>A	ENST00000255681.6	-	4	612	c.546C>T	c.(544-546)ggC>ggT	p.G182G		NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1			11					TCCACTCACCGCCACCGCCTC	0.657000																								0							SO:0001630	splice_region_variant			ENST00000255681.6	1	0	hg19	CCDS8056.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	1	0	1	21	70	0	15	1	9.999231e-01	18	40	0	15	2		0	0	0	0	0	2	1	9.999989e-01	20	69	0	15	2								-20.000000	1	1	121306	6	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
STIP1	10963	broad.mit.edu	37	11	63961682	63961682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63961682G>A	ENST00000305218.4	+	3	388	c.241G>A	c.(241-243)Gct>Act	p.A81T	STIP1_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000358794.5_Missense_Mutation_p.A128T|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000538945.1_Intron	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1			27					AAAAGCAGCAGCTCTAGAGTT	0.418000																								0							SO:0001583	missense			ENST00000305218.4	1	1	hg19	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718011	0.96839	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000543847	T;T;T	0.68025	1.98;1.98;-0.3	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.974	D	0.85372	0.1114	10	0.45353	T	0.12	-15.1911	18.7171	0.91679	0.0:0.0:1.0:0.0	.	81;81	P31948;F5H783	STIP1_HUMAN;.	T	128;81;81	ENSP00000351646:A128T;ENSP00000305958:A81T;ENSP00000442704:A81T	ENSP00000305958:A81T	A	+	1	0	STIP1	63718258	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.139000	0.94554	2.788000	0.95919	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	1	0	1	137	575	0	135	1	1	139	286	0	135	2		0	0	0	0	0	2	1	1	136	571	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STIP1	10963	broad.mit.edu	37	11	63970625	63970625	+	Silent	SNP	G	G	A	rs2070232	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63970625G>A	ENST00000305218.4	+	12	1458	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	STIP1_ENST00000358794.5_Silent_p.A484A|STIP1_ENST00000538945.1_Silent_p.A413A	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1			27					AAGCCGCTGCGCTGGAAGCGA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000305218.4	1	0	hg19	CCDS8058.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	0	0	1	84	324	0	95	1	1	186	367	0	95	2		0	0	0	0	0	2	1	1	83	320	0	93	2								-1.078929	0	1	121412	9521	72	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FERMT3	83706	broad.mit.edu	37	11	63978299	63978299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63978299C>T	ENST00000279227.5	+	3	472	c.377C>T	c.(376-378)gCc>gTc	p.A126V	FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3			18					GCTGTGGCTGCCATCTGCCGC	0.662000																								0							SO:0001583	missense			ENST00000279227.5	1	1	hg19	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449334	0.43531	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.14640	2.49;2.49;2.49	3.68	0.445	0.16597	Band 4.1 domain (1);	0.159347	0.42964	D	0.000624	T	0.09512	0.0234	L	0.38175	1.15	0.32276	N	0.568278	B;B	0.19445	0.036;0.008	B;B	0.25140	0.058;0.011	T	0.14062	-1.0486	10	0.31617	T	0.26	-11.6903	6.2277	0.20718	0.6032:0.2977:0.0:0.0991	.	126;126	Q86UX7-2;Q86UX7	.;URP2_HUMAN	V	126	ENSP00000445778:A126V;ENSP00000339950:A126V;ENSP00000279227:A126V	ENSP00000279227:A126V	A	+	2	0	FERMT3	63734875	1.000000	0.71417	0.816000	0.32577	0.992000	0.81027	1.490000	0.35573	0.004000	0.14682	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	1	0	1	120	547	0	119	1	1	6	127	0	119	2		0	0	0	0	0	2	1	1	119	534	0	117	2								-3.268330	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FERMT3	83706	broad.mit.edu	37	11	63987987	63987987	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63987987G>T	ENST00000279227.5	+	12	1498	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3			18					AGCTACACCAGCGAGGTGCAG	0.716000																								0							SO:0001583	missense			ENST00000279227.5	1	1	hg19	CCDS8060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944161|0.944161	0.18281|0.18281	.|.	.|.	ENSG00000149781|ENSG00000149781	ENST00000545896|ENST00000345728;ENST00000279227	T|T;T	0.56941|0.71579	0.43|-0.58;-0.58	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Band 4.1 domain (1);FERM central domain (2);	.|0.149940	.|0.64402	.|D	.|0.000020	T|T	0.70456|0.70456	0.3226|0.3226	L|L	0.50333|0.50333	1.59|1.59	0.47245|0.47245	D|D	0.999366|0.999366	.|P;P	.|0.46277	.|0.875;0.753	.|P;P	.|0.48795	.|0.454;0.59	T|T	0.71764|0.71764	-0.4494|-0.4494	7|10	0.49607|0.46703	T|T	0.09|0.11	-27.66|-27.66	12.5477|12.5477	0.56210|0.56210	0.0:0.1693:0.8307:0.0|0.0:0.1693:0.8307:0.0	.|.	.|464;468	.|Q86UX7-2;Q86UX7	.|.;URP2_HUMAN	S|I	27|464;468	ENSP00000440209:A27S|ENSP00000339950:S464I;ENSP00000279227:S468I	ENSP00000440209:A27S|ENSP00000279227:S468I	A|S	+|+	1|2	0|0	FERMT3|FERMT3	63744563|63744563	0.055000|0.055000	0.20627|0.20627	0.983000|0.983000	0.44433|0.44433	0.057000|0.057000	0.15508|0.15508	1.991000|1.991000	0.40727|0.40727	2.395000|2.395000	0.81488|0.81488	0.561000|0.561000	0.74099|0.74099	GCG|AGC		TCGA-IB-7651-01A-11D-2154-08	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	1	0	1	28	88	0	17	0	9.999987e-01	1	76	0	17	2		0	0	0	0	0	2	1	1	28	85	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCB3	5331	broad.mit.edu	37	11	64021957	64021957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64021957C>A	ENST00000540288.1	+	2	273	c.170C>A	c.(169-171)cCc>cAc	p.P57H	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)			33					TGGACGGGCCCCAACATGGTG	0.682000																								0							SO:0001583	missense			ENST00000540288.1	1	1	hg19	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.690530	0.48097	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.42900	0.96;0.96	4.37	4.37	0.52481	.	2.609590	0.03948	N	0.288080	T	0.48003	0.1476	L	0.29908	0.895	0.80722	D	1	P	0.49559	0.925	P	0.49752	0.621	T	0.32613	-0.9900	10	0.72032	D	0.01	.	14.2399	0.65950	0.0:1.0:0.0:0.0	.	57	Q01970	PLCB3_HUMAN	H	57	ENSP00000279230:P57H;ENSP00000443631:P57H	ENSP00000279230:P57H	P	+	2	0	PLCB3	63778533	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	1.618000	0.36954	2.139000	0.66308	0.550000	0.68814	CCC		TCGA-IB-7651-01A-11D-2154-08	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1	1	0	1	186	754	0	177	1	9.999996e-01	32	52	0	177	2		0	0	0	0	0	2	1	1	178	740	0	173	2								-3.137581	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCB3	5331	broad.mit.edu	37	11	64022436	64022436	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64022436A>G	ENST00000540288.1	+	4	416	c.313A>G	c.(313-315)Acg>Gcg	p.T105A	PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A|PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)			33					GAAGCTGATGACGGTGGTGTC	0.612000																								0							SO:0001583	missense			ENST00000540288.1	1	1	hg19	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	a	15.77	2.930752	0.52866	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.52983	0.64;0.64;0.64	4.67	4.67	0.58626	.	0.053649	0.64402	D	0.000001	T	0.70780	0.3263	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.97	T	0.76680	-0.2870	10	0.87932	D	0	.	13.4244	0.61018	1.0:0.0:0.0:0.0	.	38;105	G5E960;Q01970	.;PLCB3_HUMAN	A	105;105;38	ENSP00000279230:T105A;ENSP00000443631:T105A;ENSP00000324660:T38A	ENSP00000279230:T105A	T	+	1	0	PLCB3	63779012	1.000000	0.71417	0.974000	0.42286	0.100000	0.18952	8.999000	0.93557	1.885000	0.54596	0.454000	0.30748	ACG		TCGA-IB-7651-01A-11D-2154-08	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1	1	0	1	33	162	0	36	1	1	64	77	0	36	2		0	0	0	0	0	2	1	1	31	161	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
BAD	572	broad.mit.edu	37	11	64051656	64051656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64051656C>T	ENST00000394532.3	-	1	455	c.185G>A	c.(184-186)gGa>gAa	p.G62E	GPR137_ENST00000438980.2_5'Flank|BAD_ENST00000309032.3_Missense_Mutation_p.G62E|GPR137_ENST00000313074.3_5'Flank|GPR137_ENST00000411458.1_5'Flank|BAD_ENST00000394531.3_Missense_Mutation_p.G62E|GPR137_ENST00000377702.4_5'Flank|BAD_ENST00000544785.1_Missense_Mutation_p.G62E|GPR137_ENST00000539851.1_5'Flank	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death			4					GTACTTACCTCCATGATGGCT	0.652000																								0							SO:0001583	missense			ENST00000394532.3	1	1	hg19	CCDS8065.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898415	0.52227	.	.	ENSG00000002330	ENST00000394532;ENST00000540152;ENST00000309032;ENST00000544785;ENST00000394531	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	3.84	2.92	0.33932	.	0.452778	0.19726	N	0.107474	T	0.60573	0.2279	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.967	D;P	0.69654	0.965;0.769	T	0.61297	-0.7091	10	0.66056	D	0.02	-22.4463	7.4518	0.27242	0.0:0.8821:0.0:0.1179	.	62;62	A8MXU7;Q92934	.;BAD_HUMAN	E	62	ENSP00000378040:G62E;ENSP00000309103:G62E;ENSP00000440575:G62E;ENSP00000378039:G62E	ENSP00000309103:G62E	G	-	2	0	BAD	63808232	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	0.870000	0.28010	1.187000	0.43000	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	1	0	1	65	268	0	72	1	1	33	75	0	72	2		0	0	0	0	0	2	1	1	64	266	0	70	2								-3.566496	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR137	56834	broad.mit.edu	37	11	64054213	64054213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054213C>T	ENST00000313074.3	+	1	322	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	GPR137_ENST00000438980.2_Missense_Mutation_p.R73C|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R131C|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Missense_Mutation_p.R73C	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137			10					GGCCGCCTTGCGTACCACCCT	0.622000																								0							SO:0001583	missense			ENST00000313074.3	1	1	hg19	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298482	0.81025	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540370;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T;T;T;T;T;T;T	0.71579	1.54;-0.58;-0.35;1.54;1.54;1.54;1.54;-0.41;-0.51;1.54;1.54	4.01	3.07	0.35406	.	0.000000	0.64402	D	0.000001	T	0.77315	0.4112	L	0.47716	1.5	0.58432	D	0.999993	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;0.997;0.994;1.0;0.968;0.996;0.994	T	0.77694	-0.2492	10	0.87932	D	0	-5.3832	10.5188	0.44907	0.1953:0.8047:0.0:0.0	.	73;131;79;73;73;73;73	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	C	79;131;73;73;73;73;73;73;73;73;73;73;73;73	ENSP00000445570:R79C;ENSP00000411827:R131C;ENSP00000442792:R73C;ENSP00000438716:R73C;ENSP00000446342:R73C;ENSP00000441003:R73C;ENSP00000445000:R73C;ENSP00000415698:R73C;ENSP00000321698:R73C;ENSP00000441034:R73C;ENSP00000442929:R73C	ENSP00000321698:R73C	R	+	1	0	GPR137	63810789	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.337000	0.43947	0.871000	0.35750	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	1	0	1	243	1162	0	277	1	1	78	114	0	277	2		0	0	0	0	0	2	1	1	235	1135	0	274	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR137	56834	broad.mit.edu	37	11	64054338	64054338	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054338C>T	ENST00000313074.3	+	1	447	c.342C>T	c.(340-342)aaC>aaT	p.N114N	GPR137_ENST00000438980.2_Silent_p.N114N|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Silent_p.N172N|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Silent_p.N114N|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Silent_p.N114N	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137			10					CGCTTATGAACCTCTACTTTG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000313074.3	1	1	hg19	CCDS8066.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	0	0	0	23	655	0	143	1	9.773309e-01	7	168	0	143	2		0	0	0	0	0	2	1	9.999992e-01	23	646	0	141	2								-19.644740	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.400000	0.260000	1.000000	0.400000	0.436316	0.400000	0	3.200000e-01	5.100000e-01
GPR137	56834	broad.mit.edu	37	11	64055662	64055662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64055662C>T	ENST00000313074.3	+	4	864	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GPR137_ENST00000438980.2_Silent_p.Y253Y|GPR137_ENST00000411458.1_Silent_p.Y311Y|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000539851.1_Silent_p.Y253Y	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137			10					CCTTCGATTACGACTGGTACA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000313074.3	1	1	hg19	CCDS8066.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	1	0	1	99	486	0	120	1	1	20	126	0	120	2		0	0	0	0	0	2	1	1	99	477	0	119	2								-20.000000	1	1	121412	6	41	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR137	56834	broad.mit.edu	37	11	64056115	64056115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64056115G>A	ENST00000313074.3	+	6	1058	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	KCNK4_ENST00000422670.2_5'Flank|GPR137_ENST00000438980.2_Missense_Mutation_p.R318Q|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R376Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q|GPR137_ENST00000539851.1_Intron	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137			10					TTTGCCTCTCGGTCCTACTTC	0.617000																								0							SO:0001583	missense			ENST00000313074.3	1	1	hg19	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103582	0.56291	.	.	ENSG00000173264	ENST00000411458;ENST00000377702;ENST00000438980;ENST00000313074	T;T;T	0.58652	0.32;0.41;0.36	4.84	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.45352	1.415	0.80722	D	1	P;D;P;D	0.71674	0.938;0.998;0.883;0.978	B;P;B;P	0.56563	0.364;0.801;0.235;0.457	T	0.58272	-0.7665	10	0.66056	D	0.02	-8.6912	6.3244	0.21234	0.0975:0.0:0.7238:0.1787	.	376;318;318;268	B4DTG7;Q96N19-2;Q96N19;Q96N19-3	.;.;G137A_HUMAN;.	Q	376;268;318;318	ENSP00000411827:R376Q;ENSP00000415698:R318Q;ENSP00000321698:R318Q	ENSP00000321698:R318Q	R	+	2	0	GPR137	63812691	0.998000	0.40836	0.993000	0.49108	0.863000	0.49368	6.880000	0.75578	1.029000	0.39812	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	1	0	1	15	72	0	28	1	9.999996e-01	42	112	0	28	2		0	0	0	0	0	2	1	8.251788e-01	14	70	1	28	11								-3.470224	1	0	121346	1	31	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999352	0.990000	1	9.900000e-01	1
KCNK4	50801	broad.mit.edu	37	11	64064699	64064699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64064699G>A	ENST00000539216.1	+	3	782	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000539651.1_3'UTR			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4			10					GTCGGGGACCGGCTGGGCTCC	0.632000																								0							SO:0001583	missense			ENST00000539216.1	1	1	hg19	CCDS8067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.770476|2.770476	0.49680|0.49680	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000538767|ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.36|5.36	4.25|4.25	0.50352|0.50352	.|Ion transport 2 (1);	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.13500|0.13500	0.0327|0.0327	N|N	0.05012|0.05012	-0.13|-0.13	0.38410|0.38410	D|D	0.945908|0.945908	B;B|B	0.14438|0.21905	0.01;0.01|0.062	B;B|B	0.10450|0.28784	0.005;0.005|0.094	T|T	0.16188|0.16188	-1.0411|-1.0411	8|10	0.87932|0.10111	D|T	0|0.7	.|.	8.2058|8.2058	0.31454|0.31454	0.1877:0.0:0.8123:0.0|0.1877:0.0:0.8123:0.0	.|.	114;75|141	B4DJC9;F5GYE0|Q9NYG8	.;.|KCNK4_HUMAN	S|Q	75|141;166;141;203;141	.|ENSP00000402797:R141Q;ENSP00000378033:R141Q;ENSP00000444948:R141Q	ENSP00000446454:G75S|ENSP00000378033:R141Q	G|R	+|+	1|2	0|0	KCNK4|KCNK4	63821275|63821275	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.977000|0.977000	0.68977|0.68977	5.891000|5.891000	0.69782|0.69782	2.521000|2.521000	0.84997|0.84997	0.555000|0.555000	0.69702|0.69702	GGC|CGG		TCGA-IB-7651-01A-11D-2154-08	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	1	0	0	18	358	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	9.999782e-01	18	347	0	58	2								-3.231053	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.570000	0.350000	1.000000	0.560000	0.601889	0.570000	0	4.500000e-01	7.400000e-01
ESRRA	2101	broad.mit.edu	37	11	64082215	64082215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082215G>A	ENST00000405666.1	+	5	808	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T|ESRRA_ENST00000406310.1_Splice_Site	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha			14					TGTCACAGCAGCCCCAGTGAA	0.592000																								0							SO:0001583	missense			ENST00000405666.1	0	1	hg19	CCDS41667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657433|1.657433	0.29425|0.29425	.|.	.|.	ENSG00000173153|ENSG00000173153	ENST00000406310|ENST00000000442;ENST00000539594;ENST00000405666	.|T;T;T	.|0.35789	.|1.29;1.29;1.29	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Nuclear hormone receptor, ligand-binding (2);	.|0.000000	.|0.46442	.|D	.|0.000292	.|T	.|0.20981	.|0.0505	N|N	0.22421|0.22421	0.69|0.69	0.33007|0.33007	D|D	0.526971|0.526971	.|P	.|0.41524	.|0.753	.|B	.|0.28553	.|0.091	.|T	.|0.43278	.|-0.9401	.|10	.|0.62326	.|D	.|0.03	.|.	13.73|13.73	0.62781|0.62781	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192	.|P11474	.|ERR1_HUMAN	.|T	-1|192;49;192	.|ENSP00000000442:A192T;ENSP00000439896:A49T;ENSP00000384851:A192T	.|ENSP00000000442:A192T	.|A	+|+	.|1	.|0	ESRRA|ESRRA	63838791|63838791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.615000|0.615000	0.37417|0.37417	4.517000|4.517000	0.60503|0.60503	2.171000|2.171000	0.68590|0.68590	0.462000|0.462000	0.41574|0.41574	.|GCC		TCGA-IB-7651-01A-11D-2154-08	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	1	0	1	47	195	0	52	1	1	77	101	0	52	2		0	0	0	0	0	2	1	1	46	193	0	51	2								-3.567634	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESRRA	2101	broad.mit.edu	37	11	64082498	64082498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082498C>T	ENST00000405666.1	+	6	1002	c.768C>T	c.(766-768)gaC>gaT	p.D256D	ESRRA_ENST00000000442.6_Silent_p.D256D|ESRRA_ENST00000406310.1_Silent_p.D255D	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha			14					CGCTGTCTGACCAGATGTCAG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000405666.1	0	1	hg19	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408958	0.11812	.	.	ENSG00000173153	ENST00000545035	.	.	.	4.14	1.23	0.21249	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47381	-0.9122	4	.	.	.	.	7.5808	0.27963	0.0:0.6945:0.0:0.3055	.	.	.	.	I	37	.	.	T	+	2	0	ESRRA	63839074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.594000	0.36697	0.512000	0.28257	0.462000	0.41574	ACC		TCGA-IB-7651-01A-11D-2154-08	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	1	0	0	6	75	0	16	1	9.992991e-01	12	198	0	16	2		0	0	0	0	0	2	1	9.655769e-01	6	74	0	16	2								-11.130000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.910000	0.390000	1.000000	1.000000	0.838431	0.910000	1	6.100000e-01	1
CCDC88B	283234	broad.mit.edu	37	11	64109494	64109494	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64109494A>C	ENST00000356786.5	+	8	748	c.704A>C	c.(703-705)gAa>gCa	p.E235A	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B			27					CTGGAGCGAGAACCCCTCTGC	0.642000																								0							SO:0001583	missense			ENST00000356786.5	1	1	hg19	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	14.33	2.504144	0.44558	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.35048	1.33	3.96	2.83	0.33086	.	.	.	.	.	T	0.34832	0.0911	M	0.69358	2.11	0.09310	N	0.999999	B;B	0.21606	0.058;0.058	B;B	0.22152	0.038;0.038	T	0.35325	-0.9793	9	0.62326	D	0.03	.	6.0024	0.19527	0.8807:0.0:0.1193:0.0	.	235;235	B2RTU8;A6NC98	.;CC88B_HUMAN	A	235	ENSP00000349238:E235A	ENSP00000349238:E235A	E	+	2	0	CCDC88B	63866070	0.090000	0.21635	0.001000	0.08648	0.263000	0.26337	2.591000	0.46163	0.718000	0.32166	0.359000	0.22050	GAA		TCGA-IB-7651-01A-11D-2154-08	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	0	0	1	39	177	0	49	0	5.090736e-01	0	9	0	49	2		0	0	0	0	0	2	1	1	39	175	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC88B	283234	broad.mit.edu	37	11	64111522	64111522	+	Missense_Mutation	SNP	G	G	T	rs149069335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111522G>T	ENST00000356786.5	+	14	1553	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B			27					TGCTGGAGGAGGCTCCCCAGA	0.657000																								0							SO:0001583	missense			ENST00000356786.5	1	1	hg19	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	9.265	1.044196	0.19748	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23147	1.92	3.19	-4.77	0.03219	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.25169	0.094;0.119;0.094	B;B;B	0.19666	0.026;0.024;0.026	T	0.26155	-1.0111	9	0.59425	D	0.04	.	3.9414	0.09329	0.2302:0.0:0.2344:0.5354	.	503;152;503	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	D	503	ENSP00000349238:E503D	ENSP00000349238:E503D	E	+	3	2	CCDC88B	63868098	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.247000	0.08866	-0.922000	0.03789	0.456000	0.33151	GAG		TCGA-IB-7651-01A-11D-2154-08	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	1	0	1	48	256	0	72	0	5.403244e-01	1	10	0	72	2		0	0	0	0	0	2	1	1	47	255	0	72	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RPS6KA4	8986	broad.mit.edu	37	11	64132779	64132779	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64132779G>A	ENST00000334205.4	+	9	978	c.913G>A	c.(913-915)Gat>Aat	p.D305N	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.D305N|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4			13					TCAGGGCCTCGATTGGGTGGC	0.597000																								0							SO:0001583	missense			ENST00000334205.4	1	1	hg19	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	5.355	0.250875	0.10130	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.05	5.05	0.67936	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.052494	0.64402	D	0.000001	T	0.39332	0.1074	N	0.17474	0.49	0.41103	D	0.985687	B;B;B;B	0.25169	0.037;0.119;0.045;0.037	B;B;B;B	0.15484	0.011;0.008;0.008;0.013	T	0.28073	-1.0055	10	0.12430	T	0.62	.	15.8721	0.79129	0.0:0.0:1.0:0.0	.	305;305;305;305	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	N	305;305;305;289	ENSP00000435580:D305N;ENSP00000333896:D305N;ENSP00000294261:D305N;ENSP00000432945:D289N	ENSP00000294261:D305N	D	+	1	0	RPS6KA4	63889355	1.000000	0.71417	0.984000	0.44739	0.049000	0.14656	5.253000	0.65452	2.363000	0.80096	0.471000	0.43371	GAT		TCGA-IB-7651-01A-11D-2154-08	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	1	0	1	50	254	0	68	1	9.999980e-01	27	75	0	68	2		0	0	0	0	0	2	1	1	49	249	0	67	2								-3.347448	1	1	121412	2	37	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPS6KA4	8986	broad.mit.edu	37	11	64137088	64137088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137088G>A	ENST00000334205.4	+	13	1664	c.1599G>A	c.(1597-1599)ccG>ccA	p.P533P	RPS6KA4_ENST00000528057.1_Silent_p.P526P|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Intron	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4			13					ACCTCAAGCCGGAGGTGGGCG	0.711000																								0							SO:0001819	synonymous_variant			ENST00000334205.4	0	1	hg19	CCDS8073.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	1	0	0	25	98	0	13	1	1	30	118	0	13	2		0	0	0	0	0	2	1	9.999999e-01	25	91	0	11	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
RPS6KA4	8986	broad.mit.edu	37	11	64137787	64137787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137787G>A	ENST00000334205.4	+	15	1953	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.E623K|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.E382K	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4			13					CAAAATCCGCGAGGGGCGCTT	0.652000																								0							SO:0001583	missense			ENST00000334205.4	1	0	hg19	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.111137	0.56398	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.64803	-0.12;-0.12;1.13;-0.12	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057561	0.64402	D	0.000002	T	0.33206	0.0855	N	0.04018	-0.295	0.25441	N	0.988093	B;B;B;B	0.32350	0.366;0.233;0.206;0.172	B;B;B;B	0.25140	0.019;0.058;0.018;0.036	T	0.15065	-1.0450	10	0.32370	T	0.25	.	8.1795	0.31302	0.1134:0.0:0.8866:0.0	.	382;623;630;624	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	K	623;630;382;608	ENSP00000435580:E623K;ENSP00000333896:E630K;ENSP00000294261:E382K;ENSP00000432945:E608K	ENSP00000294261:E382K	E	+	1	0	RPS6KA4	63894363	0.998000	0.40836	0.999000	0.59377	0.929000	0.56500	2.285000	0.43487	1.943000	0.56356	0.484000	0.47621	GAG		TCGA-IB-7651-01A-11D-2154-08	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	1	0	1	87	470	0	106	1	9.999538e-01	11	68	0	106	2		0	0	0	0	0	2	1	1	85	459	0	104	2								-3.320729	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPS6KA4	8986	broad.mit.edu	37	11	64138899	64138899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64138899G>A	ENST00000334205.4	+	17	2331	c.2266G>A	c.(2266-2268)Gtc>Atc	p.V756I	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.V749I|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4			13					CCGAGCCCCCGTCGCCTCCAA	0.731000																								0							SO:0001583	missense			ENST00000334205.4	1	1	hg19	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	0.411	-0.913058	0.02415	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261	T;T;T	0.67698	-0.28;-0.24;-0.25	1.68	0.63	0.17693	.	0.408805	0.18438	U	0.141220	T	0.46190	0.1380	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.22604	0.0;0.071;0.043;0.072	B;B;B;B	0.08055	0.0;0.002;0.001;0.003	T	0.29150	-1.0021	10	0.87932	D	0	.	7.2917	0.26370	0.319:0.0:0.681:0.0	.	508;749;756;750	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	I	749;756;508	ENSP00000435580:V749I;ENSP00000333896:V756I;ENSP00000294261:V508I	ENSP00000294261:V508I	V	+	1	0	RPS6KA4	63895475	0.006000	0.16342	0.002000	0.10522	0.016000	0.09150	0.268000	0.18571	-0.629000	0.05575	-1.786000	0.00637	GTC		TCGA-IB-7651-01A-11D-2154-08	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	1	0	0	43	147	0	20	1	9.831365e-01	9	16	0	20	2		0	0	0	0	0	2	1	1	36	134	0	16	2								-20.000000	1	1	114256	3	26	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APBB1	322	broad.mit.edu	37	11	6422833	6422833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6422833C>T	ENST00000609360.1	-	10	1573	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	APBB1_ENST00000608394.1_Missense_Mutation_p.A233T|APBB1_ENST00000530885.1_Missense_Mutation_p.A270T|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T|APBB1_ENST00000608655.1_Missense_Mutation_p.A272T|APBB1_ENST00000608704.1_Missense_Mutation_p.A233T|APBB1_ENST00000529519.1_Missense_Mutation_p.A17T|APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000609331.1_Missense_Mutation_p.A257T|APBB1_ENST00000389906.2_Missense_Mutation_p.A492T|APBB1_ENST00000608645.1_Missense_Mutation_p.A233T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)			24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			AGGCTGGTGGCGATGTTCTTG	0.582000													GBM(147;1810 2556 5672 39622)											0							SO:0001583	missense			ENST00000609360.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.72	3.880540	0.72294	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.15	4.15	0.48705	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.075519	0.51477	N	0.000085	T	0.47002	0.1422	M	0.67700	2.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.985;0.973;1.0	D;B;P;D	0.68483	0.958;0.378;0.497;0.939	T	0.49504	-0.8933	10	0.62326	D	0.03	-3.8853	13.9432	0.64069	0.0:1.0:0.0:0.0	.	95;492;270;490	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	T	490;490;492;341;233;257;270;231	ENSP00000299402:A490T;ENSP00000311912:A490T;ENSP00000374556:A492T;ENSP00000433338:A270T;ENSP00000437114:A231T	ENSP00000299402:A490T	A	-	1	0	APBB1	6379409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.425000	0.80255	2.137000	0.66172	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	1	0	1	45	269	0	67	0	9.999053e-01	1	84	0	67	2		0	0	0	0	0	2	1	1	43	262	0	65	2								-3.078110	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
APBB1	322	broad.mit.edu	37	11	6432329	6432329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6432329G>A	ENST00000609360.1	-	2	348	c.249C>T	c.(247-249)gcC>gcT	p.A83A	APBB1_ENST00000311051.3_Silent_p.A83A|APBB1_ENST00000389906.2_Silent_p.A83A|APBB1_ENST00000299402.6_Silent_p.A83A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)			24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			GGTCACGGTGGGCCGTGGCGG	0.662000													GBM(147;1810 2556 5672 39622)											0							SO:0001819	synonymous_variant			ENST00000609360.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	0	0	0	62	1496	0	270	1	7.368602e-01	2	63	0	270	2		0	0	0	0	0	2	1	1	62	1469	0	265	2								-4.550099	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.470000	0.360000	1.000000	0.470000	0.495585	0.470000	0	4.100000e-01	5.400000e-01
SLC22A12	116085	broad.mit.edu	37	11	64359294	64359294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64359294G>A	ENST00000377574.1	+	1	1013	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12			27				Losartan(DB00678)|Probenecid(DB01032)	CACCAGTGCCGCCGCTTCCGC	0.667000																								0							SO:0001583	missense			ENST00000377574.1	1	1	hg19	CCDS8075.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.530	1.110479	0.20714	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.4	-3.38	0.04883	.	0.452831	0.22567	N	0.058382	T	0.14399	0.0348	L	0.58354	1.805	0.20196	N	0.999926	P;P;P;P	0.49253	0.809;0.809;0.921;0.809	B;B;B;B	0.43194	0.106;0.106;0.411;0.106	T	0.19679	-1.0298	10	0.28530	T	0.3	.	8.6014	0.33747	0.0809:0.0:0.2911:0.628	.	89;89;89;89	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	89	ENSP00000366790:R89H;ENSP00000366797:R89H;ENSP00000366795:R89H;ENSP00000336836:R89H	ENSP00000336836:R89H	R	+	2	0	SLC22A12	64115870	0.000000	0.05858	0.089000	0.20774	0.132000	0.20833	-0.585000	0.05794	-0.818000	0.04329	0.484000	0.47621	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	1	0	1	51	250	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	50	240	0	46	2								-20.000000	1	1	121260	2	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRXN2	9379	broad.mit.edu	37	11	64374726	64374726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64374726G>A	ENST00000377551.1	-	22	5292	c.5081C>T	c.(5080-5082)gCt>gTt	p.A1694V	NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A1694V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V			Q9P2S2	NRX2A_HUMAN	neurexin 2			71					CTTGGGGGCAGCCGGGGCCTT	0.612000																								0							SO:0001583	missense			ENST00000377551.1	1	1	hg19	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	5.066	0.197830	0.09652	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.62498	0.52;0.02;0.07;0.02;0.12	4.46	3.53	0.40419	.	0.516541	0.15138	U	0.278438	T	0.47655	0.1457	N	0.14661	0.345	0.09310	N	1	P;B;B;B	0.35139	0.486;0.014;0.021;0.263	B;B;B;B	0.40565	0.333;0.017;0.014;0.071	T	0.44528	-0.9322	10	0.56958	D	0.05	.	9.4359	0.38639	0.1061:0.0:0.8939:0.0	.	1624;1694;1440;648	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	V	648;1694;1624;1694;1624;1687	ENSP00000301894:A648V;ENSP00000366774:A1694V;ENSP00000366782:A1624V;ENSP00000265459:A1694V;ENSP00000386416:A1687V	ENSP00000265459:A1694V	A	-	2	0	NRXN2	64131302	1.000000	0.71417	0.067000	0.19924	0.111000	0.19643	5.981000	0.70524	2.033000	0.60031	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	1	0	1	33	182	0	34	0	9.959101e-01	0	50	0	34	2		0	0	0	0	0	2	1	1	33	177	0	34	2								-3.339300	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
NRXN2	9379	broad.mit.edu	37	11	64417929	64417929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64417929C>T	ENST00000377551.1	-	14	3311	c.3100G>A	c.(3100-3102)Gat>Aat	p.D1034N	NRXN2_ENST00000265459.6_Missense_Mutation_p.D1034N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2			71					CCTTTGAGATCGAGGTTTCGG	0.632000																								0							SO:0001583	missense			ENST00000377551.1	1	1	hg19	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254449	0.95336	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43416	U	0.000577	D	0.83096	0.5180	L	0.41906	1.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	D	0.84949	0.0870	10	0.87932	D	0	.	15.0551	0.71908	0.0:1.0:0.0:0.0	.	994;1034;780	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	N	1034;994;1034;994;1027	ENSP00000366774:D1034N;ENSP00000366782:D994N;ENSP00000265459:D1034N;ENSP00000386416:D1027N	ENSP00000265459:D1034N	D	-	1	0	NRXN2	64174505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.884000	0.69729	2.488000	0.83962	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	0	0	0	22	755	0	123	0	1.709932e-02	0	7	0	123	2		0	0	0	0	0	2	1	9.999983e-01	22	738	0	123	2								-3.060779	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.340000	0.210000	1.000000	0.330000	0.371505	0.340000	0	2.700000e-01	4.300000e-01
RASGRP2	10235	broad.mit.edu	37	11	64504476	64504476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64504476C>T	ENST00000354024.3	-	9	1096	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000377494.1_Missense_Mutation_p.A282T|RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)			24					TTGCCTGTCGCCGTCACTAGT	0.607000																								0							SO:0001583	missense			ENST00000354024.3	1	1	hg19	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699499	0.48307	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.12	5.12	0.69794	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.119837	0.56097	D	0.000027	T	0.19725	0.0474	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.04140	-1.0974	10	0.87932	D	0	-6.3758	11.5176	0.50532	0.1792:0.8208:0.0:0.0	.	282;282	Q7LDG7;A6NDC7	GRP2_HUMAN;.	T	282	ENSP00000366714:A282T;ENSP00000377953:A282T;ENSP00000366717:A282T;ENSP00000338864:A282T	ENSP00000338864:A282T	A	-	1	0	RASGRP2	64261052	0.993000	0.37304	0.929000	0.37066	0.395000	0.30598	3.158000	0.50723	2.550000	0.86006	0.579000	0.79373	GCG		TCGA-IB-7651-01A-11D-2154-08	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	1	0	1	38	109	0	43	0	9.613303e-01	0	18	0	43	2		0	0	0	0	0	2	1	1	37	109	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYGM	5837	broad.mit.edu	37	11	64518041	64518041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518041C>A	ENST00000164139.3	-	17	2382	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	PYGM_ENST00000377432.3_Missense_Mutation_p.D574Y|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle			38					TCAGAGAGGTCTGCAGCTGGG	0.607000																								0							SO:0001583	missense			ENST00000164139.3	1	0	hg19	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445024	0.83993	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.98602	-3.64;-5.02	4.91	4.91	0.64330	.	0.000000	0.53938	D	0.000053	D	0.99423	0.9796	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98100	1.0414	10	0.87932	D	0	-43.9903	15.638	0.76970	0.0:1.0:0.0:0.0	.	574;662	A6NDY6;P11217	.;PYGM_HUMAN	Y	574;662;643	ENSP00000366650:D574Y;ENSP00000164139:D662Y	ENSP00000164139:D662Y	D	-	1	0	PYGM	64274617	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	7.616000	0.83018	2.564000	0.86499	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	1	0	0	55	254	0	80	0	1.520479e-01	0	4	0	80	2		0	0	0	0	0	2	1	1	54	251	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYGM	5837	broad.mit.edu	37	11	64518890	64518890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518890C>A	ENST00000164139.3	-	16	2274	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	PYGM_ENST00000377432.3_Missense_Mutation_p.A538S|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle			38					TCCCCGATGGCTGTGACGAGT	0.607000																								0							SO:0001583	missense			ENST00000164139.3	1	1	hg19	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	5.899	0.349894	0.11182	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.92911	-2.98;-3.13	5.16	3.12	0.35913	.	0.221691	0.32372	N	0.006195	T	0.78729	0.4329	N	0.04724	-0.175	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.20767	0.021;0.031	T	0.70985	-0.4723	10	0.02654	T	1	-21.054	10.5174	0.44898	0.4743:0.5257:0.0:0.0	.	538;626	A6NDY6;P11217	.;PYGM_HUMAN	S	538;626;607	ENSP00000366650:A538S;ENSP00000164139:A626S	ENSP00000164139:A626S	A	-	1	0	PYGM	64275466	0.001000	0.12720	0.981000	0.43875	0.947000	0.59692	-0.092000	0.11129	1.381000	0.46364	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	1	0	1	67	293	0	85	0	3.570613e-02	0	2	0	85	2		0	0	0	0	0	2	1	1	66	287	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SF1	7536	broad.mit.edu	37	11	64536602	64536602	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64536602C>T	ENST00000377390.3	-	8	1117		c.e8-1		SF1_ENST00000227503.9_Splice_Site|SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000377394.3_Splice_Site	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1			31					TCTTAAGATCCTATTAAAGGA	0.458000																								0							SO:0001630	splice_region_variant			ENST00000377390.3	1	1	hg19	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810024	0.70797	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5751	0.87946	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF1	64293178	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	7.260000	0.78391	2.752000	0.94435	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	1	0	1	96	376	0	102	0	0	0	1	0	102	2		0	0	0	0	0	2	1	1	94	368	0	102	2								-3.104676	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SF1	7536	broad.mit.edu	37	11	64537827	64537827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64537827C>T	ENST00000377390.3	-	4	627	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SF1_ENST00000227503.9_Missense_Mutation_p.R97Q|SF1_ENST00000334944.5_Missense_Mutation_p.R97Q|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1			31					GCGGAACTCTCGGGTGTTAAG	0.537000																								0							SO:0001583	missense			ENST00000377390.3	1	1	hg19	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698736	0.88830	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.64618	-0.11;-0.02;0.0;0.18;-0.05;-0.01	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;P;D;D	0.69654	0.965;0.935;0.903;0.955;0.955	D	0.85181	0.1004	10	0.87932	D	0	.	17.5684	0.87927	0.0:1.0:0.0:0.0	.	97;97;97;97;222	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	Q	222;97;97;97;97;71	ENSP00000366604:R222Q;ENSP00000366607:R97Q;ENSP00000227503:R97Q;ENSP00000366611:R97Q;ENSP00000334414:R97Q;ENSP00000396793:R71Q	ENSP00000227503:R97Q	R	-	2	0	SF1	64294403	1.000000	0.71417	0.950000	0.38849	0.975000	0.68041	7.264000	0.78432	2.748000	0.94277	0.462000	0.41574	CGA		TCGA-IB-7651-01A-11D-2154-08	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	1	0	0	55	589	0	119	1	1	9	330	0	119	2		0	0	0	0	0	2	1	1	54	583	0	119	2								-3.142702	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.770000	1.000000	1.000000	0.958068	0.990000	1	8.800000e-01	1
MAP4K2	5871	broad.mit.edu	37	11	64563851	64563851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64563851G>A	ENST00000294066.2	-	24	1736	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2			8					GCCCAGATGTGCGTGGATTTC	0.647000																								0							SO:0001583	missense			ENST00000294066.2	1	1	hg19	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191818	0.58017	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.04706	3.57;3.57	4.31	4.31	0.51392	Citron-like (3);	0.292538	0.33712	N	0.004633	T	0.06554	0.0168	N	0.21194	0.64	0.37448	D	0.914713	P;D	0.53619	0.925;0.961	P;P	0.51701	0.53;0.677	T	0.51576	-0.8688	10	0.27785	T	0.31	.	12.1955	0.54294	0.0:0.0:1.0:0.0	.	541;549	Q86VU3;Q12851	.;M4K2_HUMAN	Y	549;541	ENSP00000294066:H549Y;ENSP00000366567:H541Y	ENSP00000294066:H549Y	H	-	1	0	MAP4K2	64320427	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.001000	0.63946	2.247000	0.74100	0.558000	0.71614	CAC		TCGA-IB-7651-01A-11D-2154-08	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	1	0	1	62	268	0	45	1	9.999753e-01	16	54	0	45	2		0	0	0	0	0	2	1	1	62	264	0	44	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP4K2	5871	broad.mit.edu	37	11	64568445	64568445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64568445C>T	ENST00000294066.2	-	9	680	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2			8					AGGGCCCAGACGTCACATAGC	0.637000																								0							SO:0001583	missense			ENST00000294066.2	1	1	hg19	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054915	0.08291	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.25579	1.79;1.79	4.66	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138774	0.47852	D	0.000205	T	0.07188	0.0182	N	0.01250	-0.93	0.38384	D	0.945219	B;B	0.31625	0.332;0.278	B;B	0.34652	0.091;0.187	T	0.32107	-0.9919	10	0.02654	T	1	.	7.3691	0.26792	0.0:0.7191:0.0:0.2808	.	197;197	Q86VU3;Q12851	.;M4K2_HUMAN	I	197	ENSP00000294066:V197I;ENSP00000366567:V197I	ENSP00000294066:V197I	V	-	1	0	MAP4K2	64325021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.214000	0.32419	0.513000	0.28278	0.456000	0.33151	GTC		TCGA-IB-7651-01A-11D-2154-08	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	1	0	1	123	578	0	131	1	9.851146e-01	4	29	0	131	2		0	0	0	0	0	2	1	1	122	574	0	130	2								-20.000000	1	1	121410	2	32	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEN1	4221	broad.mit.edu	37	11	64572567	64572567	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64572567G>A	ENST00000337652.1	-	9	1807	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L	MEN1_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L|MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I			337					ATGCAGCACAGGCGTGGGACT	0.622000			D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0							SO:0001583	missense	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	ENST00000337652.1	1	1	hg19	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101372	0.94245	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.97662	1.0161	10	0.87932	D	0	-17.8969	14.0916	0.64995	0.0:0.0:1.0:0.0	.	430;395;435	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	395;430;430;430;435;435;435;435;435	ENSP00000366538:P395L;ENSP00000366543:P430L;ENSP00000308975:P430L;ENSP00000323747:P430L;ENSP00000337088:P435L;ENSP00000377901:P435L;ENSP00000377899:P435L;ENSP00000396940:P435L;ENSP00000366530:P435L	ENSP00000308975:P430L	P	-	2	0	MEN1	64329143	1.000000	0.71417	0.898000	0.35279	0.974000	0.67602	8.435000	0.90297	2.257000	0.74773	0.456000	0.33151	CCT		TCGA-IB-7651-01A-11D-2154-08	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	1	0	1	49	211	0	73	1	9.999342e-01	21	44	0	73	2		0	0	0	0	0	2	1	1	49	209	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEN1	4221	broad.mit.edu	37	11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64573758C>T	ENST00000337652.1	-	7	1513	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I			337					CCGCACATTGCGGTTGCGACA	0.602000			D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0							SO:0001583	missense	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	ENST00000337652.1	1	1	hg19	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991942	0.74703	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873	D;D;D;D;D;D;D;D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92	3.92	3.92	0.45320	.	0.139807	0.41712	U	0.000830	D	0.98729	0.9573	L	0.43152	1.355	0.41578	D	0.988725	D;D;D	0.76494	0.999;0.991;0.999	P;P;P	0.60012	0.791;0.796;0.867	D	0.97955	1.0334	10	0.46703	T	0.11	-14.869	7.8854	0.29646	0.0:0.8839:0.0:0.1161	.	332;297;337	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	332;297;332;332;332;337;337;337;337;337;332	ENSP00000366533:R332H;ENSP00000366538:R297H;ENSP00000366543:R332H;ENSP00000308975:R332H;ENSP00000323747:R332H;ENSP00000337088:R337H;ENSP00000377901:R337H;ENSP00000377899:R337H;ENSP00000396940:R337H;ENSP00000366530:R337H;ENSP00000413944:R332H	ENSP00000308975:R332H	R	-	2	0	MEN1	64330334	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.274000	0.43390	1.927000	0.55829	0.456000	0.33151	CGC		TCGA-IB-7651-01A-11D-2154-08	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	0	0	1	153	557	1	155	1	9.999986e-01	28	65	1	155	4		0	0	0	0	0	2	1	1	149	547	1	153	16								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEN1	4221	broad.mit.edu	37	11	64575388	64575388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64575388G>A	ENST00000337652.1	-	3	1147	c.644C>T	c.(643-645)aCa>aTa	p.T215I	MEN1_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I|MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	p.T210fs*13(1)		337					GGCATTGACTGTCTGGCCCCT	0.597000			D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	1	Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	ENST00000337652.1	1	1	hg19	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483385	0.63962	.	.	ENSG00000133895	ENST00000377316;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D	0.99422	-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88;-5.88	4.8	4.8	0.61643	.	0.128336	0.51477	D	0.000092	D	0.98432	0.9478	L	0.40543	1.245	0.51233	D	0.999918	P;P	0.37525	0.544;0.598	B;B	0.42361	0.266;0.385	D	0.99908	1.1187	10	0.66056	D	0.02	-3.0626	15.7433	0.77920	0.0:0.0:1.0:0.0	.	210;215	O00255-2;O00255	.;MEN1_HUMAN	I	210;210;210;210;215;215;215;215;215;210;210;210	ENSP00000366533:T210I;ENSP00000366543:T210I;ENSP00000308975:T210I;ENSP00000323747:T210I;ENSP00000337088:T215I;ENSP00000377901:T215I;ENSP00000377899:T215I;ENSP00000396940:T215I;ENSP00000366530:T215I;ENSP00000413944:T210I;ENSP00000394933:T210I;ENSP00000411218:T210I	ENSP00000308975:T210I	T	-	2	0	MEN1	64331964	1.000000	0.71417	0.946000	0.38457	0.729000	0.41735	6.808000	0.75206	2.386000	0.81285	0.462000	0.41574	ACA		TCGA-IB-7651-01A-11D-2154-08	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	0	0	0	10	274	0	61	0	8.225137e-01	1	88	0	61	2		0	0	0	0	0	2	1	9.966803e-01	9	269	0	61	2								-11.019270	1	1	121412	1	28	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.430000	0.220000	1.000000	0.410000	0.467796	0.430000	0	3.100000e-01	6.000000e-01
CDC42BPG	55561	broad.mit.edu	37	11	64594559	64594559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64594559G>T	ENST00000342711.5	-	34	4351	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)			4					CCCGTTGGCAGGGCCCACGTG	0.607000																								0							SO:0001583	missense			ENST00000342711.5	1	1	hg19	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596832	0.66332	.	.	ENSG00000171219	ENST00000342711	D	0.84442	-1.85	5.0	4.09	0.47781	.	0.646706	0.13776	N	0.363588	D	0.90724	0.7089	M	0.82716	2.605	0.45704	D	0.998617	D	0.65815	0.995	P	0.57244	0.816	D	0.90315	0.4340	10	0.87932	D	0	.	11.5066	0.50471	0.0884:0.0:0.9116:0.0	.	1451	Q6DT37	MRCKG_HUMAN	H	1451	ENSP00000345133:P1451H	ENSP00000345133:P1451H	P	-	2	0	CDC42BPG	64351135	1.000000	0.71417	0.408000	0.26446	0.322000	0.28314	6.173000	0.71937	1.247000	0.43917	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	0	0	0	17	584	0	101	0	1.765609e-02	0	7	0	101	2		0	0	0	0	0	2	1	9.999630e-01	18	578	0	101	2								-2.959249	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.340000	0.200000	1.000000	0.330000	0.374577	0.340000	0	2.600000e-01	4.400000e-01
CDC42BPG	55561	broad.mit.edu	37	11	64599088	64599088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64599088G>A	ENST00000342711.5	-	28	3192	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)			4					AGCAGCCGCTGCAGCTCACCC	0.692000											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001587	stop_gained			ENST00000342711.5	0	1	hg19	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	40	8.391436	0.98791	.	.	ENSG00000171219	ENST00000342711	.	.	.	3.85	3.85	0.44370	.	0.000000	0.38111	N	0.001805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.6836	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	X	1065	.	ENSP00000345133:Q1065X	Q	-	1	0	CDC42BPG	64355664	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.325000	0.65869	2.167000	0.68274	0.313000	0.20887	CAG		TCGA-IB-7651-01A-11D-2154-08	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	1	0	1	37	149	0	32	1	7.222864e-01	3	9	0	32	2		0	0	0	0	0	2	1	1	37	144	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42BPG	55561	broad.mit.edu	37	11	64602876	64602876	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64602876C>A	ENST00000342711.5	-	16	1895	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)			4					ACAGAGCCTCCTCCTTACCAC	0.672000																								0							SO:0001583	missense			ENST00000342711.5	1	1	hg19	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054298	0.55218	.	.	ENSG00000171219	ENST00000342711	T	0.52057	0.68	4.72	0.326	0.15908	.	0.309656	0.24836	N	0.035208	T	0.48926	0.1527	L	0.36672	1.1	0.25851	N	0.98394	D	0.64830	0.994	D	0.70716	0.97	T	0.31475	-0.9942	10	0.54805	T	0.06	.	4.3078	0.10956	0.3085:0.5054:0.0:0.1861	.	632	Q6DT37	MRCKG_HUMAN	D	632	ENSP00000345133:E632D	ENSP00000345133:E632D	E	-	3	2	CDC42BPG	64359452	0.998000	0.40836	0.985000	0.45067	0.753000	0.42808	0.675000	0.25232	0.160000	0.19432	-0.258000	0.10820	GAG		TCGA-IB-7651-01A-11D-2154-08	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	1	0	1	351	1586	0	328	1	7.845063e-01	8	7	0	328	2		0	0	0	0	0	2	1	1	351	1548	0	327	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42BPG	55561	broad.mit.edu	37	11	64606559	64606559	+	Silent	SNP	C	C	T	rs56393929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64606559C>T	ENST00000342711.5	-	7	821	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)			4					CATAGAAGGGCGTCTCCCCAA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000342711.5	1	1	hg19	CCDS31601.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	1	0	1	82	378	0	101	1	7.756084e-01	3	12	0	101	2		0	0	0	0	0	2	1	1	82	375	0	101	2								-3.378575	1	1	121408	1	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42BPG	55561	broad.mit.edu	37	11	64607741	64607741	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64607741C>T	ENST00000342711.5	-	5	432		c.e5-1			NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)			4					TCACAAGGTACTGGAGGTGGC	0.657000																								0							SO:0001630	splice_region_variant			ENST00000342711.5	1	1	hg19	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154984	0.78114	.	.	ENSG00000171219	ENST00000342711	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7448	0.85469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC42BPG	64364317	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	7.668000	0.83897	2.621000	0.88768	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	0	0	1	47	208	1	46	1	3.859477e-01	7	0	1	46	2		0	0	0	0	0	2	1	9.999781e-01	46	202	1	46	17								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHD1	10938	broad.mit.edu	37	11	64641903	64641903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64641903C>T	ENST00000320631.3	-	2	746	c.492G>A	c.(490-492)cgG>cgA	p.R164R	EHD1_ENST00000359393.2_Silent_p.R164R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1			12					CTCTGCTGATCCGCTGCTTCT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000320631.3	0	1	hg19	CCDS8084.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	1	0	1	12	40	0	11	1	1	80	110	0	11	2		0	0	0	0	0	2	1	9.994301e-01	12	39	0	11	2								-19.999890	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999660	0.990000	1	9.900000e-01	1
ATG2A	23130	broad.mit.edu	37	11	64662641	64662641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64662641G>A	ENST00000377264.3	-	41	5733	c.5621C>T	c.(5620-5622)tCg>tTg	p.S1874L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1876L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A			55					ATGGCCCCGCGATGCCACGTC	0.677000																								0							SO:0001583	missense			ENST00000377264.3	1	1	hg19	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022483	0.54683	0.0	1.16E-4	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.07327	3.2;3.2	3.83	3.83	0.44106	Autophagy-related, C-terminal (1);	0.074853	0.53938	D	0.000047	T	0.08980	0.0222	L	0.32530	0.975	0.47308	D	0.99938	P;P	0.49862	0.929;0.912	P;B	0.45037	0.467;0.336	T	0.31475	-0.9942	10	0.31617	T	0.26	.	13.627	0.62170	0.0:0.0:1.0:0.0	.	1874;1876	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	L	1876;267;1874	ENSP00000410522:S1876L;ENSP00000366475:S1874L	ENSP00000366473:S267L	S	-	2	0	ATG2A	64419217	1.000000	0.71417	0.103000	0.21229	0.389000	0.30415	9.096000	0.94182	2.144000	0.66660	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	1	0	1	65	324	0	53	1	9.885205e-01	10	27	0	53	2		0	0	0	0	0	2	1	1	66	322	0	53	2								-20.000000	1	1	121368	1	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATG2A	23130	broad.mit.edu	37	11	64669563	64669563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64669563G>A	ENST00000377264.3	-	29	4102	c.3990C>T	c.(3988-3990)gtC>gtT	p.V1330V	ATG2A_ENST00000421419.2_Silent_p.V1332V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A			55					CAGGGCCCCCGACAGGTGGTG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000377264.3	1	1	hg19	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455658	0.01071	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.39	-3.62	0.04543	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32613	-0.9900	4	.	.	.	.	6.4286	0.21784	0.4439:0.1355:0.4205:0.0	.	.	.	.	W	1134	.	.	R	-	1	2	ATG2A	64426139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.304000	0.08199	-0.686000	0.05170	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	1	0	1	106	508	0	118	1	9.999705e-01	27	46	0	118	2		0	0	0	0	0	2	1	1	105	501	0	117	2								-20.000000	1	1	121412	4	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R5B	5526	broad.mit.edu	37	11	64695588	64695588	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64695588C>A	ENST00000164133.2	+	5	1171	c.549C>A	c.(547-549)ccC>ccA	p.P183P		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta			21					ACTTCCAGCCCTCCGTGGCCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000164133.2	1	1	hg19	CCDS8085.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	1	0	1	85	441	0	114	1	9.999847e-01	30	54	0	114	2		0	0	0	0	0	2	1	1	85	435	0	113	2								-2.972508	1	1	121412	5	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R5B	5526	broad.mit.edu	37	11	64698961	64698961	+	Splice_Site	SNP	C	C	T	rs139176991	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64698961C>T	ENST00000164133.2	+	9	1567	c.945C>T	c.(943-945)caC>caT	p.H315H		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta			21					TGACAGAGCACGTGAGTACCT	0.592000																								0							SO:0001630	splice_region_variant			ENST00000164133.2	1	0	hg19	CCDS8085.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	0	0.0	C	0.301	-0.973927	0.02215	0.001136	0.0	ENSG00000068971	ENST00000359279	.	.	.	4.29	-3.86	0.04230	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68674	-0.5346	5	0.87932	D	0	-22.0535	11.6455	0.51259	0.0:0.5824:0.0:0.4176	.	.	.	.	C	341	.	ENSP00000352225:R341C	R	+	1	0	PPP2R5B	64455537	0.000000	0.05858	0.928000	0.36995	0.262000	0.26303	-1.788000	0.01763	-0.919000	0.03803	-0.379000	0.06801	CGT		TCGA-IB-7651-01A-11D-2154-08	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	0	0	1	32	123	0	28	1	1	24	92	0	28	2		0	0	0	0	0	2	1	1	31	122	0	28	2								-3.436711	1	1	121412	33	43	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM3	10612	broad.mit.edu	37	11	6472627	6472627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6472627G>A	ENST00000525074.1	-	8	1969	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000536344.1_Silent_p.V406V|TRIM3_ENST00000537602.1_Silent_p.V447V|TRIM3_ENST00000345851.3_Silent_p.V525V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3			27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			AGCGTCCTCGGACCCCAAAAC	0.587000													Melanoma(6;5 510 1540 25169 29084)											0							SO:0001819	synonymous_variant			ENST00000525074.1	0	1	hg19	CCDS7764.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	0	0	0	11	455	0	100	0	2.644067e-01	0	39	0	100	2		0	0	0	0	0	2	1	9.981175e-01	9	445	0	99	2								-9.761422	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.290000	0.150000	1.000000	0.270000	0.326440	0.290000	0	2.100000e-01	4.000000e-01
TRIM3	10612	broad.mit.edu	37	11	6477406	6477406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477406C>T	ENST00000525074.1	-	7	1824		c.e7-1		TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site|TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site|TRIM3_ENST00000345851.3_Splice_Site	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3			27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			CCACGACTGCCTGTGGGAAGG	0.537000													Melanoma(6;5 510 1540 25169 29084)											0							SO:0001630	splice_region_variant			ENST00000525074.1	1	1	hg19	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244253	0.79912	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0997	0.89501	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM3	6433982	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.463000	0.80869	2.610000	0.88304	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	1	0	1	63	324	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	62	319	0	70	2								-3.237054	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM3	10612	broad.mit.edu	37	11	6477726	6477726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477726G>A	ENST00000525074.1	-	6	1624	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R	TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000537602.1_Silent_p.R332R|TRIM3_ENST00000345851.3_Silent_p.R410R	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3			27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			AGGGGCTGCCGCGCACTGGCT	0.677000													Melanoma(6;5 510 1540 25169 29084)											0							SO:0001819	synonymous_variant			ENST00000525074.1	1	1	hg19	CCDS7764.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	1	0	1	42	135	0	30	0	1.469654e-01	0	3	0	30	2		0	0	0	0	0	2	1	1	42	132	0	26	2								-20.000000	1	1	121092	1	22	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM3	10612	broad.mit.edu	37	11	6478645	6478645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6478645G>A	ENST00000525074.1	-	5	971	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R193C|TRIM3_ENST00000345851.3_Missense_Mutation_p.R193C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3			27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			TCTGCCTTGCGCTCCTGCAGC	0.612000													Melanoma(6;5 510 1540 25169 29084)											0							SO:0001583	missense			ENST00000525074.1	0	1	hg19	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382009	0.61845	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;D;T	0.84516	-0.7;-0.7;-0.87;-0.7;-1.86;0.89	5.15	4.24	0.50183	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.65975	2.015	0.58432	D	0.999996	D;P;D	0.71674	0.998;0.815;0.997	D;B;P	0.64042	0.921;0.071;0.836	D	0.86892	0.2049	10	0.42905	T	0.14	-9.609	7.5834	0.27978	0.0849:0.0:0.7521:0.163	.	74;74;193	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	C	193;193;193;193;182;193;193;74;193	ENSP00000433102:R193C;ENSP00000340797:R193C;ENSP00000441091:R193C;ENSP00000352508:R193C;ENSP00000445460:R74C;ENSP00000433070:R193C	ENSP00000337094:R182C	R	-	1	0	TRIM3	6435221	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.499000	0.45372	1.177000	0.42855	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	0	0	0	8	414	0	88	0	1.298709e-01	0	28	0	88	2		0	0	0	0	0	2	1	9.891004e-01	9	409	0	86	2								-7.321518	1	0	121412	2	33	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.230000	0.100000	1.000000	0.230000	0.276518	0.230000	0	1.600000e-01	3.400000e-01
TRIM3	10612	broad.mit.edu	37	11	6479076	6479076	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479076G>A	ENST00000525074.1	-	4	759	c.365C>T	c.(364-366)aCg>aTg	p.T122M	TRIM3_ENST00000359518.3_Splice_Site_p.T122M|TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000536344.1_Splice_Site_p.T3M|TRIM3_ENST00000537602.1_Splice_Site_p.T122M|TRIM3_ENST00000345851.3_Splice_Site_p.T122M	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3			27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			AAACTCCATCGTCTGCGGTAC	0.602000													Melanoma(6;5 510 1540 25169 29084)											0							SO:0001630	splice_region_variant			ENST00000525074.1	1	0	hg19	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119405	0.37436	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.06	5.06	0.68205	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.225856	0.46145	D	0.000306	T	0.36468	0.0968	N	0.11927	0.2	0.39543	D	0.968854	D;D;B	0.63046	0.992;0.984;0.367	P;P;B	0.57283	0.599;0.817;0.264	T	0.28839	-1.0031	10	0.46703	T	0.11	-3.5121	7.8979	0.29717	0.1767:0.0:0.8233:0.0	.	3;3;122	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	M	122;122;122;122;122;122;122;3;122	ENSP00000433102:T122M;ENSP00000340797:T122M;ENSP00000441091:T122M;ENSP00000352508:T122M;ENSP00000445460:T3M;ENSP00000433070:T122M	ENSP00000337094:T122M	T	-	2	0	TRIM3	6435652	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.699000	0.68310	2.345000	0.79718	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	1	0	1	97	441	0	72	0	9.115326e-01	1	20	0	72	2		0	0	0	0	0	2	1	1	95	434	0	72	2								-20.000000	1	1	121412	7	41	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM3	10612	broad.mit.edu	37	11	6479370	6479370	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479370G>A	ENST00000525074.1	-	3	682	c.288C>T	c.(286-288)gcC>gcT	p.A96A	TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000537602.1_Silent_p.A96A|TRIM3_ENST00000345851.3_Silent_p.A96A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3			27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)			CCGGGTCGTGGGCCCCATCAG	0.652000													Melanoma(6;5 510 1540 25169 29084)											0							SO:0001819	synonymous_variant			ENST00000525074.1	1	1	hg19	CCDS7764.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	1	0	1	77	379	0	74	1	9.950418e-01	11	31	0	74	2		0	0	0	0	0	2	1	1	69	356	0	68	2								-3.340986	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX15	29907	broad.mit.edu	37	11	64803116	64803116	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64803116C>T	ENST00000377244.3	+	6	775	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SNX15_ENST00000352068.5_Silent_p.F215F|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15			14					TTGCCCTCTTCGACCCCTTCT	0.647000													Esophageal Squamous(56;269 1304 3324 8253)											0							SO:0001819	synonymous_variant			ENST00000377244.3	1	1	hg19	CCDS8089.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3	1	0	1	119	488	0	136	1	1	34	76	0	136	2		0	0	0	0	0	2	1	1	118	476	0	134	2								-20.000000	1	1	121404	1	25	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAALADL1	10004	broad.mit.edu	37	11	64825602	64825602	+	Silent	SNP	G	G	A	rs144528264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64825602G>A	ENST00000358658.3	-	2	333	c.306C>T	c.(304-306)taC>taT	p.Y102Y	NAALADL1_ENST00000355369.2_Silent_p.Y102Y|NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y|NAALADL1_ENST00000355721.3_Silent_p.Y102Y	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1			29					GCAGCACTTCGTACGTGGAGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000358658.3	1	1	hg19	CCDS31604.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	1	0	1	91	311	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	91	305	0	72	2								-20.000000	1	1	121410	3	31	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDCA5	113130	broad.mit.edu	37	11	64846905	64846905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64846905C>T	ENST00000275517.3	-	5	770	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5			7					ATGTCTGGGGCCCAGGGCTTT	0.577000																								0							SO:0001583	missense			ENST00000275517.3	1	1	hg19	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661948	0.47572	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.43688	0.94;0.94	5.29	-0.127	0.13510	.	0.451135	0.23805	N	0.044381	T	0.34542	0.0901	L	0.57536	1.79	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.19582	-1.0301	10	0.33141	T	0.24	.	9.3783	0.38297	0.0:0.5908:0.0:0.4092	.	200	Q96FF9	CDCA5_HUMAN	T	200	ENSP00000275517:A200T;ENSP00000385711:A200T	ENSP00000275517:A200T	A	-	1	0	CDCA5	64603481	0.172000	0.23043	0.032000	0.17829	0.676000	0.39594	0.288000	0.18939	-0.032000	0.13758	-0.151000	0.13558	GCC		TCGA-IB-7651-01A-11D-2154-08	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	1	0	1	76	298	0	62	1	9.985580e-01	13	27	0	62	2		0	0	0	0	0	2	1	1	75	291	0	62	2								-2.231092	0	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDCA5	113130	broad.mit.edu	37	11	64847051	64847051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64847051G>A	ENST00000275517.3	-	5	624	c.452C>T	c.(451-453)aCc>aTc	p.T151I	CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5			7					AGAGCCCAGGGTCTCCAGCCG	0.632000																								0							SO:0001583	missense			ENST00000275517.3	1	1	hg19	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959397	0.34565	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.45668	0.89;0.89	4.89	-2.52	0.06346	.	1.143710	0.06283	N	0.697788	T	0.44329	0.1288	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.39590	0.304	T	0.55101	-0.8193	10	0.59425	D	0.04	.	11.5239	0.50569	0.0:0.4348:0.4424:0.1228	.	151	Q96FF9	CDCA5_HUMAN	I	151	ENSP00000275517:T151I;ENSP00000385711:T151I	ENSP00000275517:T151I	T	-	2	0	CDCA5	64603627	0.058000	0.20735	0.000000	0.03702	0.356000	0.29392	0.335000	0.19806	-0.186000	0.10533	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	1	0	1	40	164	0	33	1	9.704730e-01	9	17	0	33	2		0	0	0	0	0	2	1	1	40	161	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFPL1	7542	broad.mit.edu	37	11	64855532	64855532	+	Silent	SNP	C	C	T	rs143603280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64855532C>T	ENST00000294258.3	+	8	1031	c.879C>T	c.(877-879)agC>agT	p.S293S	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1			11					CAGCTGACAGCGATCCCAACC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000294258.3	1	1	hg19	CCDS8092.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	1	0	1	135	727	0	142	1	9.999998e-01	32	83	0	142	2		0	0	0	0	0	2	1	1	134	715	0	141	2								-20.000000	1	1	121408	1	38	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNHIT2	741	broad.mit.edu	37	11	64884293	64884293	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64884293G>A	ENST00000310597.4	-	1	877	c.833C>T	c.(832-834)cCg>cTg	p.P278L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2			6					CAGGGGCCCCGGCGGGTGCTC	0.706000																								0							SO:0001583	missense			ENST00000310597.4	0	1	hg19	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421075	0.42918	.	.	ENSG00000174276	ENST00000310597;ENST00000528598	T	0.30448	1.53	4.67	4.67	0.58626	.	0.331947	0.27437	U	0.019374	T	0.16342	0.0393	N	0.11560	0.145	0.25447	N	0.988045	P	0.47106	0.89	B	0.37601	0.254	T	0.10776	-1.0615	10	0.31617	T	0.26	-9.9964	15.0938	0.72217	0.0:0.0:1.0:0.0	.	278	Q9UHR6	ZNHI2_HUMAN	L	278;113	ENSP00000308548:P278L	ENSP00000308548:P278L	P	-	2	0	ZNHIT2	64640869	0.042000	0.20092	0.396000	0.26296	0.322000	0.28314	1.537000	0.36083	2.417000	0.82017	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	0	0	0	5	203	0	40	1	2.345308e-01	4	28	0	40	2		0	0	0	0	0	2	1	9.333874e-01	5	197	0	39	2								-7.006305	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.310000	0.110000	1.000000	0.280000	0.355307	0.310000	0	1.900000e-01	4.800000e-01
SYVN1	84447	broad.mit.edu	37	11	64895881	64895881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64895881C>T	ENST00000377190.3	-	16	1921	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	SYVN1_ENST00000526060.1_Silent_p.Q608Q|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Silent_p.Q608Q|SYVN1_ENST00000307289.6_Silent_p.Q557Q	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin			22					ACTCCAGCTTCTGCAGGCGGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000377190.3	1	1	hg19	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	c	3.512	-0.099676	0.07010	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	-4.48	0.03515	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33189	-0.9878	5	0.07990	T	0.79	.	12.7242	0.57162	0.0:0.4464:0.0:0.5536	.	.	.	.	K	609	.	ENSP00000412962:R609K	R	-	2	0	SYVN1	64652457	0.000000	0.05858	0.409000	0.26459	0.890000	0.51754	-2.457000	0.01001	-1.770000	0.01295	-1.194000	0.01681	AGA		TCGA-IB-7651-01A-11D-2154-08	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	1	0	1	29	118	0	42	1	1	55	231	0	42	2		0	0	0	0	0	2	1	1	28	116	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SYVN1	84447	broad.mit.edu	37	11	64896065	64896065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64896065G>T	ENST00000377190.3	-	15	1811	c.1717C>A	c.(1717-1719)Cca>Aca	p.P573T	SYVN1_ENST00000526060.1_Missense_Mutation_p.P572T|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T|SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin			22					GGGGCTGGTGGGGAGGCTCCT	0.602000																								0							SO:0001583	missense			ENST00000377190.3	1	1	hg19	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	g	3.476	-0.106889	0.06924	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000307289;ENST00000526060	T;T;T;T	0.08896	3.04;3.05;3.22;3.05	4.73	0.831	0.18860	.	0.817568	0.11036	N	0.606679	T	0.05090	0.0136	N	0.19112	0.55	0.31228	N	0.696704	B;B;B	0.15930	0.015;0.015;0.009	B;B;B	0.24974	0.057;0.057;0.026	T	0.46247	-0.9205	10	0.11182	T	0.66	-0.2177	6.6834	0.23132	0.3835:0.0:0.6165:0.0	.	521;572;573	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	T	573;572;521;572	ENSP00000366395:P573T;ENSP00000294256:P572T;ENSP00000302035:P521T;ENSP00000436984:P572T	ENSP00000294256:P572T	P	-	1	0	SYVN1	64652641	0.947000	0.32204	0.995000	0.50966	0.684000	0.39900	0.189000	0.17037	0.000000	0.14550	0.550000	0.68814	CCA		TCGA-IB-7651-01A-11D-2154-08	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	1	0	0	18	412	0	84	1	9.996135e-01	11	282	0	84	2		0	0	0	0	0	2	1	9.999798e-01	18	404	0	83	2								-2.703712	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.500000	0.300000	1.000000	0.490000	0.532333	0.500000	0	3.900000e-01	6.500000e-01
CAPN1	823	broad.mit.edu	37	11	64972252	64972252	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64972252G>A	ENST00000527323.1	+	10	1504	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit			13		Lung NSC(402;0.094)|Melanoma(852;0.16)			CTTCGTGCTCGCCCTTATGCA	0.637000											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000527323.1	1	1	hg19	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805608	0.96967	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	4.51	4.51	0.55191	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.056434	0.64402	D	0.000002	D	0.92928	0.7750	M	0.69463	2.115	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.93795	0.7096	10	0.87932	D	0	.	15.0833	0.72130	0.0:0.0:1.0:0.0	.	422	P07384	CAN1_HUMAN	T	422;422;422;422;368;422	ENSP00000435272:A422T;ENSP00000431686:A422T;ENSP00000434176:A422T;ENSP00000279247:A422T;ENSP00000431984:A422T	ENSP00000259755:A368T	A	+	1	0	CAPN1	64728828	1.000000	0.71417	0.888000	0.34837	0.970000	0.65996	9.716000	0.98752	2.232000	0.73038	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1	1	0	1	79	284	0	51	1	1	125	379	0	51	2		0	0	0	0	0	2	1	1	79	283	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARFIP2	23647	broad.mit.edu	37	11	6500398	6500398	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6500398A>G	ENST00000254584.2	-	4	370	c.287T>C	c.(286-288)gTc>gCc	p.V96A	ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A|ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|TIMM10B_ENST00000254616.6_5'Flank|TIMM10B_ENST00000530751.1_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2			15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			CCATTTCTTGACGATGTCAAA	0.502000													Melanoma(119;796 1674 9049 20480 24794)											0							SO:0001583	missense			ENST00000254584.2	1	1	hg19	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003961	0.93287	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.79352	-1.26;-1.26;-1.26	5.6	5.6	0.85130	.	0.215125	0.48767	D	0.000161	D	0.83510	0.5270	M	0.65498	2.005	0.80722	D	1	P;P	0.51537	0.946;0.863	P;P	0.54060	0.741;0.484	D	0.85554	0.1223	10	0.72032	D	0.01	.	15.4442	0.75216	1.0:0.0:0.0:0.0	.	129;96	B4DUZ3;P53365	.;ARFP2_HUMAN	A	96;96;58;96	ENSP00000254584:V96A;ENSP00000379998:V96A;ENSP00000398375:V58A	ENSP00000254584:V96A	V	-	2	0	ARFIP2	6456974	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.333000	0.79214	2.148000	0.66965	0.397000	0.26171	GTC		TCGA-IB-7651-01A-11D-2154-08	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	1	0	1	53	293	0	65	1	1	101	238	0	65	2		0	0	0	0	0	2	1	1	53	287	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
POLA2	23649	broad.mit.edu	37	11	65063055	65063055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65063055T>C	ENST00000265465.3	+	16	2036	c.1505T>C	c.(1504-1506)aTc>aCc	p.I502T	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.I294T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit			11				Dacarbazine(DB00851)	CTCAAGCACATCTTGACCCAG	0.488000																								0							SO:0001583	missense			ENST00000265465.3	1	1	hg19	CCDS8098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.091466|4.091466	0.76756|0.76756	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.37752|.	1.18;1.18|.	5.06|5.06	5.06|5.06	0.68205|0.68205	DNA polymerase alpha/epsilon, subunit B (1);|.	0.088707|.	0.85682|.	D|.	0.000000|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.83774|0.83774	2.66|2.66	0.52099|0.52099	D|D	0.999947|0.999947	P;P|.	0.42556|.	0.629;0.783|.	B;P|.	0.45577|.	0.405;0.486|.	T|T	0.78685|0.78685	-0.2108|-0.2108	10|5	0.72032|.	D|.	0.01|.	-24.0439|-24.0439	12.7672|12.7672	0.57399|0.57399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	294;502|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	T|P	502;294|172	ENSP00000265465:I502T;ENSP00000443222:I294T|.	ENSP00000265465:I502T|.	I|S	+|+	2|1	0|0	POLA2|POLA2	64819631|64819631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.680000|6.680000	0.74518|0.74518	1.911000|1.911000	0.55334|0.55334	0.379000|0.379000	0.24179|0.24179	ATC|TCT		TCGA-IB-7651-01A-11D-2154-08	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	0	0	1	68	326	0	82	1	9.979629e-01	11	36	0	82	2		0	0	0	0	0	2	1	1	66	321	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42EP2	10435	broad.mit.edu	37	11	65088649	65088649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65088649C>T	ENST00000544348.1	+	2	886	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2			1					CGTGTGTGGGCGGGAGCTCCC	0.672000																								0							SO:0001583	missense			ENST00000544348.1	1	1	hg19	CCDS8099.1	89	0.04075091575091575	24	0.04878048780487805	9	0.024861878453038673	20	0.03496503496503497	36	0.047493403693931395	C	9.404	1.078776	0.20227	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.33865	1.39;1.39;1.39	5.06	3.13	0.36017	.	0.647764	0.14384	N	0.322973	T	0.07593	0.0191	L	0.44542	1.39	0.30127	N	0.805174	D	0.56746	0.977	P	0.47206	0.541	T	0.04347	-1.0958	10	0.56958	D	0.05	-23.6747	11.8157	0.52209	0.3186:0.6814:0.0:0.0	.	94	O14613	BORG1_HUMAN	W	94	ENSP00000279249:R94W;ENSP00000431660:R94W;ENSP00000442534:R94W	ENSP00000279249:R94W	R	+	1	2	CDC42EP2	64845225	0.000000	0.05858	0.091000	0.20842	0.289000	0.27227	0.349000	0.20055	0.673000	0.31224	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	1	0	1	44	402	0	81	1	9.999091e-01	21	106	0	81	2		0	0	0	0	0	2	1	1	44	396	0	78	2								-20.000000	1	1	121406	25	43	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.860000	1.000000	1.000000	0.989637	0.990000	1	9.900000e-01	1
DPF2	5977	broad.mit.edu	37	11	65113213	65113213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113213C>T	ENST00000528416.1	+	7	847	c.714C>T	c.(712-714)ggC>ggT	p.G238G	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Silent_p.G252G	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2			23					AGGAGGAGGGCGAGGACAAGG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000528416.1	1	0	hg19	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	c	8.255	0.809838	0.16537	.	.	ENSG00000133884	ENST00000531989	D	0.91068	-2.78	5.24	-10.2	0.00374	.	.	.	.	.	D	0.91016	0.7174	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91055	0.4881	6	0.87932	D	0	-24.6152	13.2977	0.60307	0.0867:0.1833:0.0:0.7299	.	.	.	.	V	1	ENSP00000435887:A1V	ENSP00000435887:A1V	A	+	2	0	DPF2	64869789	0.000000	0.05858	0.034000	0.17996	0.673000	0.39480	-4.528000	0.00220	-2.294000	0.00663	-1.982000	0.00454	GCG		TCGA-IB-7651-01A-11D-2154-08	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	0	0	1	60	258	0	49	1	1	47	115	0	49	2		0	0	0	0	0	2	1	1	60	253	0	49	2								-20.000000	1	1	121412	2	31	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPF2	5977	broad.mit.edu	37	11	65113742	65113742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113742C>T	ENST00000528416.1	+	9	1062	c.929C>T	c.(928-930)aCc>aTc	p.T310I	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.T324I	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2			23					CTCCAATTTACCCCCGTGATG	0.557000																								0							SO:0001583	missense			ENST00000528416.1	1	1	hg19	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048325	0.93740	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.90955	-2.75;-2.76	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38778	N	0.001563	D	0.96367	0.8815	M	0.90977	3.165	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.96952	0.9695	10	0.87932	D	0	-22.942	17.1512	0.86778	0.0:1.0:0.0:0.0	.	310	Q92785	REQU_HUMAN	I	310;324	ENSP00000436901:T310I;ENSP00000252268:T324I	ENSP00000252268:T324I	T	+	2	0	DPF2	64870318	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.701000	0.84566	2.667000	0.90743	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	1	0	1	47	211	0	82	1	1	39	132	0	82	2		0	0	0	0	0	2	1	1	46	206	0	80	2								-3.446565	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPF2	5977	broad.mit.edu	37	11	65113775	65113775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113775G>A	ENST00000528416.1	+	9	1095	c.962G>A	c.(961-963)cGc>cAc	p.R321H	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.R335H	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2			23					AAGACATACCGCTGGCAGTGC	0.562000																								0							SO:0001583	missense			ENST00000528416.1	1	1	hg19	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825531	0.96996	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.87412	-2.25;-2.25	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (2);	0.000000	0.38381	N	0.001707	D	0.92805	0.7712	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.63033	0.91	D	0.93216	0.6604	10	0.66056	D	0.02	-20.6648	17.1512	0.86778	0.0:0.0:1.0:0.0	.	321	Q92785	REQU_HUMAN	H	321;335	ENSP00000436901:R321H;ENSP00000252268:R335H	ENSP00000252268:R335H	R	+	2	0	DPF2	64870351	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.607000	0.74163	2.667000	0.90743	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	1	0	1	50	209	0	80	1	1	39	131	0	80	2		0	0	0	0	0	2	1	1	48	203	0	80	2								-3.453851	1	0	121412	1	28	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A45	283130	broad.mit.edu	37	11	65144076	65144076	+	Silent	SNP	G	G	A	rs17857132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65144076G>A	ENST00000527174.1	-	6	724	c.669C>T	c.(667-669)gaC>gaT	p.D223D	SLC25A45_ENST00000377152.2_Silent_p.D119D|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000398802.1_Silent_p.D223D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000294187.6_Silent_p.D181D|SLC25A45_ENST00000417511.2_Silent_p.D181D|SLC25A45_ENST00000360662.3_Silent_p.D199D			Q8N413	S2545_HUMAN	solute carrier family 25, member 45			14					ACTTGATCATGTCTAAGGGCG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000527174.1	1	1	hg19	CCDS41670.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	0	0	0	18	442	0	89	1	3.489877e-01	3	27	0	89	2		0	0	0	0	0	2	1	9.999794e-01	18	433	0	89	2								-17.332080	1	1	121154	6	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.470000	0.280000	1.000000	0.460000	0.500577	0.470000	0	3.700000e-01	6.100000e-01
FRMD8	83786	broad.mit.edu	37	11	65156957	65156957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65156957G>A	ENST00000317568.5	+	3	374	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	FRMD8_ENST00000416776.2_Missense_Mutation_p.A71T|FRMD8_ENST00000355991.5_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8			17					TCCAGACATCGCCCTGGATGT	0.647000																								0							SO:0001583	missense			ENST00000317568.5	0	1	hg19	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689184	0.68271	.	.	ENSG00000126391	ENST00000317568;ENST00000416776;ENST00000526201;ENST00000525156	D;D	0.85773	-1.86;-2.03	5.11	5.11	0.69529	Band 4.1 domain (1);FERM domain (1);	0.123969	0.52532	D	0.000061	D	0.91948	0.7450	M	0.81497	2.545	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.71656	0.955;0.974	D	0.91702	0.5374	10	0.41790	T	0.15	-5.9838	16.0501	0.80755	0.0:0.0:1.0:0.0	.	71;71	B4E2P1;Q9BZ67	.;FRMD8_HUMAN	T	71;71;63;71	ENSP00000319726:A71T;ENSP00000392111:A71T	ENSP00000319726:A71T	A	+	1	0	FRMD8	64913533	1.000000	0.71417	0.498000	0.27564	0.083000	0.17756	5.954000	0.70298	2.375000	0.81037	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	0	0	0	36	112	0	34	1	1	69	97	0	34	2		0	0	0	0	0	2	1	1	35	109	0	34	2								-20.000000	1	1	121370	1	24	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMD8	83786	broad.mit.edu	37	11	65172384	65172384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65172384C>T	ENST00000317568.5	+	10	1284	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V|FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8			17					CTGAGCCAGGCGGCGGAGCCC	0.687000																								0							SO:0001583	missense			ENST00000317568.5	1	1	hg19	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	C	8.382	0.837694	0.16891	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.83506	-1.73;-1.14;-1.73	5.09	4.17	0.49024	FERM domain (1);	0.730035	0.12832	N	0.435558	T	0.71888	0.3393	N	0.16478	0.41	0.09310	N	1	B;B;B	0.24721	0.002;0.04;0.11	B;B;B	0.17722	0.001;0.019;0.006	T	0.54918	-0.8221	10	0.27785	T	0.31	-0.2797	14.7452	0.69485	0.0:0.9198:0.0:0.0802	.	340;318;374	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	V	374;318;340	ENSP00000319726:A374V;ENSP00000348270:A318V;ENSP00000392111:A340V	ENSP00000319726:A374V	A	+	2	0	FRMD8	64928960	0.940000	0.31905	0.293000	0.24932	0.005000	0.04900	2.398000	0.44486	0.659000	0.30945	-0.797000	0.03246	GCG		TCGA-IB-7651-01A-11D-2154-08	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	1	0	1	47	265	0	50	1	1	65	92	0	50	2		0	0	0	0	0	2	1	1	45	262	0	49	2								-3.325010	1	1	121364	20	42	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
DNHD1	144132	broad.mit.edu	37	11	6523988	6523988	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6523988A>C	ENST00000527990.2	+	2	752	c.752A>C	c.(751-753)cAg>cCg	p.Q251P	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q251P|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1			55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)			CACAGGTCTCAGCTTGACTAT	0.498000																								0							SO:0001583	missense			ENST00000527990.2	1	1	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446580	0.25987	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.27402	1.67;2.66;1.67	5.63	3.17	0.36434	.	1.037430	0.07577	N	0.919635	T	0.41719	0.1171	M	0.68317	2.08	0.09310	N	1	P;D	0.60160	0.917;0.987	B;P	0.52217	0.446;0.693	T	0.18335	-1.0340	10	0.23891	T	0.37	.	8.0455	0.30547	0.6741:0.0:0.0:0.3259	.	251;251	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	251	ENSP00000254579:Q251P;ENSP00000346716:Q251P;ENSP00000436180:Q251P	ENSP00000254579:Q251P	Q	+	2	0	DNHD1	6480564	0.000000	0.05858	0.016000	0.15963	0.281000	0.26958	-0.175000	0.09825	0.338000	0.23692	0.455000	0.32223	CAG		TCGA-IB-7651-01A-11D-2154-08	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1	39	181	0	43	0	8.695916e-02	0	3	0	43	2		0	0	0	0	0	2	1	1	39	177	0	43	2								-19.997990	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCYL1	57410	broad.mit.edu	37	11	65300199	65300199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65300199G>T	ENST00000270176.5	+	9	1230	c.1153G>T	c.(1153-1155)Gtc>Ttc	p.V385F	SCYL1_ENST00000524944.1_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F|SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)			2					CGAGCCAACAGTCAACACCCA	0.592000																								0							SO:0001583	missense			ENST00000270176.5	1	1	hg19	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689093	0.68271	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	4.18	4.18	0.49190	Armadillo-like helical (1);Armadillo-type fold (1);	0.138171	0.47852	D	0.000220	T	0.48960	0.1529	M	0.88241	2.94	0.80722	D	1	B;D;P;B;P	0.60160	0.228;0.987;0.516;0.399;0.774	B;P;B;B;B	0.61397	0.15;0.888;0.373;0.287;0.271	T	0.61118	-0.7127	10	0.87932	D	0	-11.1604	14.353	0.66716	0.0:0.0:1.0:0.0	.	385;385;385;385;385	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	F	385;385;385;385;385;385;385;385;242	ENSP00000270176:V385F;ENSP00000431635:V385F;ENSP00000408192:V385F;ENSP00000437254:V385F;ENSP00000433450:V385F;ENSP00000279270:V385F;ENSP00000432175:V385F;ENSP00000436993:V242F	ENSP00000270176:V385F	V	+	1	0	SCYL1	65056775	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.470000	0.90399	2.074000	0.62210	0.462000	0.41574	GTC		TCGA-IB-7651-01A-11D-2154-08	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	1	0	1	43	196	0	79	1	1	95	349	0	79	2		0	0	0	0	0	2	1	1	41	193	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCYL1	57410	broad.mit.edu	37	11	65302805	65302805	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65302805C>T	ENST00000270176.5	+	10	1415	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	SCYL1_ENST00000524944.1_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C|SCYL1_ENST00000527009.1_Silent_p.C303C|SCYL1_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)			2					CCATCCGCTGCAACACCACAG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000270176.5	1	1	hg19	CCDS41672.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	1	0	1	77	513	0	130	1	1	125	319	0	130	2		0	0	0	0	0	2	1	1	74	501	0	128	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SCYL1	57410	broad.mit.edu	37	11	65304578	65304578	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65304578C>T	ENST00000270176.5	+	14	2015	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	SCYL1_ENST00000524944.1_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D|SCYL1_ENST00000527009.1_Silent_p.D503D|SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000533862.1_Silent_p.D646D	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)			2					GATGGGACGACGAAGACTGGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000270176.5	1	1	hg19	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380844	0.05000	.	.	ENSG00000142186	ENST00000417543	.	.	.	5.15	-9.27	0.00659	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60378	-0.7275	5	0.40728	T	0.16	-4.8276	6.8351	0.23931	0.1907:0.3926:0.0:0.4168	.	.	.	.	M	331	.	ENSP00000393598:T331M	T	+	2	0	SCYL1	65061154	0.000000	0.05858	0.054000	0.19295	0.339000	0.28857	-4.035000	0.00309	-1.521000	0.01771	-1.384000	0.01168	ACG		TCGA-IB-7651-01A-11D-2154-08	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	1	0	0	34	231	0	50	1	1	82	374	0	50	2		0	0	0	0	0	2	1	1	34	227	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999529	0.990000	1	9.900000e-01	1
LTBP3	4054	broad.mit.edu	37	11	65308385	65308385	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65308385G>T	ENST00000301873.5	-	21	3202	c.2934C>A	c.(2932-2934)acC>acA	p.T978T	LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.T408T|LTBP3_ENST00000536982.1_Silent_p.T604T|LTBP3_ENST00000322147.4_Silent_p.T978T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3			23					TGTTGTCCTGGGTGTAGCCCT	0.706000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000301873.5	1	1	hg19	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469160	0.26423	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.45	2.47	0.30058	.	.	.	.	.	T	0.45377	0.1339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	.	2.5657	0.04783	0.1095:0.1875:0.5105:0.1926	.	.	.	.	T	629	.	.	P	-	1	0	LTBP3	65064961	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	0.141000	0.16076	0.280000	0.22209	0.455000	0.32223	CCA		TCGA-IB-7651-01A-11D-2154-08	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	1	0	0	18	103	0	32	1	1	45	422	0	32	2		0	0	0	0	0	2	1	9.999862e-01	17	101	0	31	2								-3.358541	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998996	0.990000	1	9.900000e-01	1
PCNXL3	399909	broad.mit.edu	37	11	65392409	65392409	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65392409G>A	ENST00000355703.3	+	16	3380	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)			13					CCACCAGCCCGCTCACGGCAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000355703.3	1	1	hg19	CCDS44650.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	1	0	1	28	88	0	12	1	9.999993e-01	20	61	0	12	2		0	0	0	0	0	2	1	1	28	86	0	12	2								-20.000000	1	1	120970	20	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCNXL3	399909	broad.mit.edu	37	11	65394998	65394998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65394998G>A	ENST00000355703.3	+	22	4186	c.3647G>A	c.(3646-3648)cGc>cAc	p.R1216H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)			13					GACTACCCGCGCCTCTCCCAG	0.612000																								0							SO:0001583	missense			ENST00000355703.3	1	1	hg19	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725067	0.48833	0.0	1.2E-4	ENSG00000197136	ENST00000355703	T	0.06528	3.29	5.47	5.47	0.80525	.	0.181068	0.47455	D	0.000239	T	0.02533	0.0077	N	0.00926	-1.1	0.29813	N	0.831469	B;B	0.16166	0.005;0.016	B;B	0.11329	0.006;0.001	T	0.31668	-0.9935	10	0.09590	T	0.72	.	17.22	0.86955	0.0:0.0:1.0:0.0	.	103;1216	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	H	1216	ENSP00000347931:R1216H	ENSP00000347931:R1216H	R	+	2	0	PCNXL3	65151574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.852000	0.55934	2.735000	0.93741	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	0	0	1	176	758	0	152	1	9.999998e-01	23	69	0	152	2		0	0	0	0	0	2	1	1	175	734	0	149	2								-20.000000	1	1	120982	35	50	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1	6494	broad.mit.edu	37	11	65408725	65408725	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408725T>C	ENST00000394224.3	+	2	629	c.333T>C	c.(331-333)ctT>ctC	p.L111L	SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000534313.1_Silent_p.L111L|SIPA1_ENST00000527525.1_Silent_p.L111L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1			10					CACCAGTGCTTGAGCCTCGAT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000394224.3	1	1	hg19	CCDS8108.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	0	0	0	26	743	0	135	0	6.482981e-01	0	64	0	135	2		0	0	0	0	0	2	1	9.999999e-01	26	731	0	133	2								-3.778541	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.400000	0.260000	1.000000	0.390000	0.433546	0.400000	0	3.300000e-01	5.000000e-01
SIPA1	6494	broad.mit.edu	37	11	65408899	65408899	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408899C>T	ENST00000394224.3	+	2	803	c.507C>T	c.(505-507)ctC>ctT	p.L169L	SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000534313.1_Silent_p.L169L|SIPA1_ENST00000527525.1_Silent_p.L169L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1			10					TGTGTGAGCTCGGGGGTGAGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000394224.3	1	1	hg19	CCDS8108.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	1	46	404	0	73	1	9.993220e-01	4	92	0	73	2		0	0	0	0	0	2	1	1	45	398	0	72	2								-2.966611	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.900000	1.000000	1.000000	0.993963	0.990000	1	9.900000e-01	1
SIPA1	6494	broad.mit.edu	37	11	65408934	65408934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408934C>T	ENST00000394224.3	+	2	838	c.542C>T	c.(541-543)gCa>gTa	p.A181V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A181V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1			10					GGTGGACCAGCATCCCCACCT	0.672000																								0							SO:0001583	missense			ENST00000394224.3	1	1	hg19	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	2.543	-0.305860	0.05458	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.25	-0.778	0.10977	.	1.407170	0.05508	N	0.559664	T	0.53610	0.1807	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44590	-0.9318	10	0.28530	T	0.3	-4.0933	8.0908	0.30799	0.0:0.3711:0.0:0.6289	.	181;181	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	181	ENSP00000436269:A181V;ENSP00000433686:A181V;ENSP00000377771:A181V;ENSP00000377774:A181V	ENSP00000377771:A181V	A	+	2	0	SIPA1	65165510	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.035000	0.13797	-0.239000	0.09710	-0.300000	0.09419	GCA		TCGA-IB-7651-01A-11D-2154-08	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	1	56	286	0	57	0	9.999970e-01	1	97	0	57	2		0	0	0	0	0	2	1	1	56	280	0	56	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1	6494	broad.mit.edu	37	11	65408968	65408968	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408968G>A	ENST00000394224.3	+	2	872	c.576G>A	c.(574-576)gcG>gcA	p.A192A	SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000534313.1_Silent_p.A192A|SIPA1_ENST00000527525.1_Silent_p.A192A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1			10					TGCCCAACGCGGCCGTGTCCA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000394224.3	1	1	hg19	CCDS8108.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	1	54	216	0	50	1	9.999993e-01	3	85	0	50	2		0	0	0	0	0	2	1	1	53	213	0	50	2								-20.000000	1	0	121336	1	32	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNHD1	144132	broad.mit.edu	37	11	6541262	6541262	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6541262T>C	ENST00000527990.2	+	7	1715	c.1715T>C	c.(1714-1716)gTg>gCg	p.V572A	DNHD1_ENST00000254579.6_Missense_Mutation_p.V572A|DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1			55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)			CTGTCTCATGTGCCCTGTGTT	0.493000																								0							SO:0001583	missense			ENST00000527990.2	1	1	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	2.002	-0.429110	0.04701	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.26957	1.7;2.74;1.7	5.88	2.21	0.28008	.	0.953008	0.08759	N	0.898000	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.39418	-0.9615	10	0.09590	T	0.72	.	4.5634	0.12172	0.4278:0.0956:0.0:0.4766	.	572;572	Q96M86;Q96M86-4	DNHD1_HUMAN;.	A	572	ENSP00000254579:V572A;ENSP00000346716:V572A;ENSP00000436180:V572A	ENSP00000254579:V572A	V	+	2	0	DNHD1	6497838	0.269000	0.24143	0.750000	0.31169	0.017000	0.09413	0.687000	0.25407	0.119000	0.18210	-0.496000	0.04628	GTG		TCGA-IB-7651-01A-11D-2154-08	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1	119	557	0	120	0	8.284780e-02	1	2	0	120	2		0	0	0	0	0	2	1	1	118	552	0	120	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1	6494	broad.mit.edu	37	11	65416876	65416876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416876G>T	ENST00000394224.3	+	10	2746	c.2450G>T	c.(2449-2451)aGt>aTt	p.S817I	MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I|SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I|SIPA1_ENST00000527525.1_Missense_Mutation_p.S715I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1			10					GATGGTGGCAGTCCTCCAGGG	0.652000																								0							SO:0001583	missense			ENST00000394224.3	0	1	hg19	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739776	0.15642	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	4.77	1.55	0.23275	.	1.699950	0.04268	U	0.341457	T	0.67933	0.2946	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.55431	-0.8142	10	0.33141	T	0.24	0.2005	7.1605	0.25661	0.0:0.1686:0.4841:0.3473	.	715;817	F6RY50;Q96FS4	.;SIPA1_HUMAN	I	817;715;817;715	ENSP00000436269:S817I;ENSP00000433686:S715I;ENSP00000377771:S817I;ENSP00000377774:S715I	ENSP00000377771:S817I	S	+	2	0	SIPA1	65173452	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	0.667000	0.25112	0.517000	0.28361	0.462000	0.41574	AGT		TCGA-IB-7651-01A-11D-2154-08	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	1	10	50	0	13	1	9.999972e-01	38	125	0	13	2		0	0	0	0	0	2	1	9.964034e-01	9	46	0	12	2								-19.021410	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.960000	1.000000	1.000000	0.996277	0.990000	1	9.900000e-01	1
SIPA1	6494	broad.mit.edu	37	11	65416912	65416912	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416912C>A	ENST00000394224.3	+	10	2782	c.2486C>A	c.(2485-2487)aCt>aAt	p.T829N	MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N|SIPA1_ENST00000527525.1_Missense_Mutation_p.T727N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1			10					GAGGAGAGGACTGAGTTCCTG	0.632000																								0							SO:0001583	missense			ENST00000394224.3	0	1	hg19	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155263	0.38021	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82893	-1.66;-1.65;-1.66;-1.65	4.63	4.63	0.57726	.	0.420510	0.18841	U	0.129695	D	0.84745	0.5540	L	0.32530	0.975	0.25394	N	0.988508	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.987	T	0.74867	-0.3518	10	0.19590	T	0.45	-14.4206	13.3654	0.60680	0.0:1.0:0.0:0.0	.	727;829	F6RY50;Q96FS4	.;SIPA1_HUMAN	N	829;727;829;727	ENSP00000436269:T829N;ENSP00000433686:T727N;ENSP00000377771:T829N;ENSP00000377774:T727N	ENSP00000377771:T829N	T	+	2	0	SIPA1	65173488	0.994000	0.37717	0.932000	0.37286	0.428000	0.31595	4.182000	0.58310	2.283000	0.76528	0.462000	0.41574	ACT		TCGA-IB-7651-01A-11D-2154-08	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	1	0	1	16	69	0	13	1	1	74	227	0	13	2		0	0	0	0	0	2	1	9.999452e-01	15	66	0	13	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999757	0.990000	1	9.900000e-01	1
RELA	5970	broad.mit.edu	37	11	65423197	65423197	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65423197G>T	ENST00000406246.3	-	10	1256	c.995C>A	c.(994-996)gCt>gAt	p.A332D	RELA_ENST00000308639.9_Missense_Mutation_p.A329D|RELA_ENST00000525693.1_Missense_Mutation_p.A332D	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A			19					GGAAGGCACAGCAATGCGTCG	0.622000																								0							SO:0001583	missense			ENST00000406246.3	1	1	hg19	CCDS31609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.479028|4.479028	0.84747|0.84747	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999|ENST00000526257	T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.308394|.	0.29900|.	N|.	0.010905|.	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.61703|0.61703	1.905|1.905	0.38713|0.38713	D|D	0.953263|0.953263	P;D;D;D;P;P|.	0.64830|.	0.867;0.994;0.982;0.97;0.882;0.86|.	B;P;P;P;P;B|.	0.57425|.	0.372;0.737;0.82;0.665;0.554;0.285|.	T|T	0.67719|0.67719	-0.5598|-0.5598	10|5	0.27785|.	T|.	0.31|.	-8.8835|-8.8835	12.9567|12.9567	0.58432|0.58432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	322;319;329;332;343;332|.	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5|.	.;.;.;TF65_HUMAN;.;.|.	D|M	332;332;329;343;343|66	ENSP00000384273:A332D;ENSP00000432537:A332D;ENSP00000311508:A329D;ENSP00000433526:A343D|.	ENSP00000311508:A329D|.	A|L	-|-	2|1	0|2	RELA|RELA	65179773|65179773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.691000|4.691000	0.61738|0.61738	2.125000|2.125000	0.65367|0.65367	0.555000|0.555000	0.69702|0.69702	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	1	0	1	54	267	0	73	1	1	162	372	0	73	2		0	0	0	0	0	2	1	1	50	258	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KAT5	10524	broad.mit.edu	37	11	65481297	65481297	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65481297C>T	ENST00000377046.3	+	7	841	c.569C>T	c.(568-570)tCg>tTg	p.S190L	KAT5_ENST00000341318.4_Missense_Mutation_p.S223L|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5			21					AAGCGAAAATCGAATTGTTTG	0.542000																								0							SO:0001583	missense			ENST00000377046.3	0	1	hg19	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175512	0.38413	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.44482	0.93;0.98;0.92;0.99;0.96;0.94	5.28	5.28	0.74379	.	0.258670	0.32147	N	0.006507	T	0.31327	0.0793	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.26975	0.002;0.005;0.165;0.002	B;B;B;B	0.22152	0.001;0.006;0.038;0.001	T	0.06588	-1.0818	10	0.25751	T	0.34	-8.2286	16.395	0.83601	0.0:1.0:0.0:0.0	.	171;223;138;190	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	L	190;138;223;171;132;184	ENSP00000366245:S190L;ENSP00000344955:S138L;ENSP00000340330:S223L;ENSP00000434765:S171L;ENSP00000436000:S132L;ENSP00000436012:S184L	ENSP00000340330:S223L	S	+	2	0	KAT5	65237873	0.999000	0.42202	0.981000	0.43875	0.944000	0.59088	5.434000	0.66526	2.472000	0.83506	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	1	0	1	14	67	0	11	1	1	46	155	0	11	2		0	0	0	0	0	2	1	9.997785e-01	14	63	0	11	2								-19.999990	1	1	120984	3	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999135	0.990000	1	9.900000e-01	1
OVOL1	5017	broad.mit.edu	37	11	65562523	65562523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65562523G>A	ENST00000335987.3	+	4	867	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1			6					ACAGGCGTGCGGCCCTACAAG	0.607000																								0							SO:0001583	missense			ENST00000335987.3	1	1	hg19	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313980	0.95655	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.19806	2.12;2.12	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.086427	0.47852	N	0.000209	T	0.44519	0.1297	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42050	-0.9474	10	0.87932	D	0	-40.47	15.5686	0.76313	0.0:0.0:1.0:0.0	.	172	O14753	OVOL1_HUMAN	Q	172;110	ENSP00000337862:R172Q;ENSP00000434220:R110Q	ENSP00000337862:R172Q	R	+	2	0	OVOL1	65319099	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.787000	0.99055	2.266000	0.75297	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	1	0	1	35	123	0	35	1	4.049427e-01	2	4	0	35	2		0	0	0	0	0	2	1	1	34	122	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX32	254122	broad.mit.edu	37	11	65620368	65620368	+	Missense_Mutation	SNP	G	G	A	rs138424932	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65620368G>A	ENST00000308342.6	+	12	1522	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32			20					AAGTCCCGCCGGGTCTCCTCT	0.637000																								0							SO:0001583	missense			ENST00000308342.6	1	1	hg19	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886891	0.91814	2.27E-4	1.16E-4	ENSG00000172803	ENST00000308342	T	0.41400	1.0	4.31	3.4	0.38934	.	0.337367	0.21484	N	0.073800	T	0.60971	0.2310	M	0.82193	2.58	0.34384	D	0.693416	D	0.69078	0.997	P	0.61477	0.889	T	0.74000	-0.3805	10	0.87932	D	0	-4.7579	9.9529	0.41649	0.0999:0.0:0.9001:0.0	.	366	Q86XE0	SNX32_HUMAN	Q	366	ENSP00000310620:R366Q	ENSP00000310620:R366Q	R	+	2	0	SNX32	65376944	1.000000	0.71417	0.045000	0.18777	0.981000	0.71138	6.924000	0.75823	1.045000	0.40225	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	0	0	1	113	556	0	131	0	2.898801e-02	0	2	0	131	2		0	0	0	0	0	2	1	1	110	544	0	130	2								-2.483435	0	1	121412	11	44	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUS81	80198	broad.mit.edu	37	11	65630597	65630597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65630597A>C	ENST00000308110.4	+	7	1016	c.667A>C	c.(667-669)Agc>Cgc	p.S223R	MUS81_ENST00000533035.1_Missense_Mutation_p.S148R|CFL1_ENST00000534769.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit			13					AGAAGGCCTGAGCTTGCTGAA	0.622000								Homologous recombination																0							SO:0001583	missense			ENST00000308110.4	1	1	hg19	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.51|14.51	2.558063|2.558063	0.45590|0.45590	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.14516	.|2.5;2.72	4.78|4.78	-2.22|-2.22	0.06952|0.06952	.|.	.|0.779640	.|0.13225	.|N	.|0.404068	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.20671	.|0.047	.|B	.|0.24006	.|0.05	T|T	0.41233|0.41233	-0.9520|-0.9520	5|10	.|0.13853	.|T	.|0.58	-7.4028|-7.4028	11.6687|11.6687	0.51389|0.51389	0.3839:0.0:0.6161:0.0|0.3839:0.0:0.6161:0.0	.|.	.|223	.|Q96NY9	.|MUS81_HUMAN	A|R	147;118|148;223;223	.|ENSP00000432287:S148R;ENSP00000307853:S223R	.|ENSP00000307853:S223R	E|S	+|+	2|1	0|0	MUS81|MUS81	65387173|65387173	0.051000|0.051000	0.20477|0.20477	0.039000|0.039000	0.18376|0.18376	0.669000|0.669000	0.39330|0.39330	0.094000|0.094000	0.15107|0.15107	-0.275000|-0.275000	0.09219|0.09219	0.454000|0.454000	0.30748|0.30748	GAG|AGC		TCGA-IB-7651-01A-11D-2154-08	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	1	0	1	26	272	0	45	1	9.945880e-01	11	77	0	45	2		0	0	0	0	0	2	1	9.999999e-01	25	270	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.690000	1.000000	1.000000	0.947826	0.990000	1	8.500000e-01	1
MUS81	80198	broad.mit.edu	37	11	65631319	65631319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65631319C>T	ENST00000308110.4	+	10	1355	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*|CFL1_ENST00000534769.1_5'Flank|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit			13					GGAGCGCAAGCGACTGGATGA	0.607000								Homologous recombination																0							SO:0001587	stop_gained			ENST00000308110.4	0	1	hg19	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.318799|6.318799	0.97471|0.97471	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000533035;ENST00000308110;ENST00000437855	.|.	.|.	.|.	5.95|5.95	4.99|4.99	0.66335|0.66335	.|.	.|0.098845	.|0.64402	.|D	.|0.000003	T|.	0.26882|.	0.0658|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22941|.	-1.0202|.	3|.	.|0.02654	.|T	.|1	-29.869|-29.869	11.4698|11.4698	0.50261|0.50261	0.2847:0.7153:0.0:0.0|0.2847:0.7153:0.0:0.0	.|.	.|.	.|.	.|.	V|X	261;217|261;336;336	.|.	.|ENSP00000307853:R336X	A|R	+|+	2|1	0|2	MUS81|MUS81	65387895|65387895	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.316000|0.316000	0.28119|0.28119	2.299000|2.299000	0.43611|0.43611	2.819000|2.819000	0.97034|0.97034	0.655000|0.655000	0.94253|0.94253	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	1	0	1	54	537	0	116	1	9.999367e-01	2	138	0	116	2		0	0	0	0	0	2	1	1	53	531	0	115	2								-15.177750	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.820000	1.000000	1.000000	0.979332	0.990000	1	9.400000e-01	1
MUS81	80198	broad.mit.edu	37	11	65632028	65632028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65632028G>A	ENST00000308110.4	+	11	1469	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I	MUS81_ENST00000533035.1_Missense_Mutation_p.V299I|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit			13					GCATGGTTCCGTCCACAACCT	0.637000								Homologous recombination																0							SO:0001583	missense			ENST00000308110.4	1	1	hg19	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.07|10.07	1.250794|1.250794	0.22880|0.22880	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374|ENST00000533035;ENST00000308110;ENST00000437855	.|T;T	.|0.21734	.|1.99;1.99	5.91|5.91	1.65|1.65	0.23941|0.23941	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	.|0.538442	.|0.20786	.|N	.|0.085704	T|T	0.08223|0.08223	0.0205|0.0205	N|N	0.11427|0.11427	0.14|0.14	0.09310|0.09310	N|N	1|1	.|B	.|0.33807	.|0.426	.|B	.|0.19666	.|0.026	T|T	0.32295|0.32295	-0.9912|-0.9912	5|10	.|0.22706	.|T	.|0.39	-1.4659|-1.4659	9.3054|9.3054	0.37872|0.37872	0.312:0.0:0.688:0.0|0.312:0.0:0.688:0.0	.|.	.|374	.|Q96NY9	.|MUS81_HUMAN	H|I	299|299;374;374	.|ENSP00000432287:V299I;ENSP00000307853:V374I	.|ENSP00000307853:V374I	R|V	+|+	2|1	0|0	MUS81|MUS81	65388604|65388604	0.030000|0.030000	0.19436|0.19436	0.000000|0.000000	0.03702|0.03702	0.568000|0.568000	0.35870|0.35870	2.068000|2.068000	0.41471|0.41471	0.052000|0.052000	0.16007|0.16007	0.555000|0.555000	0.69702|0.69702	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	1	0	1	51	231	0	40	1	1	28	107	0	40	2		0	0	0	0	0	2	1	1	50	227	0	40	2								-3.430147	1	1	121412	1	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFEMP2	30008	broad.mit.edu	37	11	65637409	65637409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65637409G>A	ENST00000307998.6	-	7	876	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R216C|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2			21					TTGAAGCAGCGCTGCTCGCAT	0.607000																								0							SO:0001583	missense			ENST00000307998.6	1	1	hg19	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165288	0.78339	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;D	0.85702	-2.02;-2.02	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000055	D	0.90010	0.6881	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.88	D	0.89846	0.4006	10	0.56958	D	0.05	.	12.1058	0.53811	0.0:0.0:0.8283:0.1716	.	216;216	E9PRU1;O95967	.;FBLN4_HUMAN	C	216	ENSP00000434151:R216C;ENSP00000309953:R216C	ENSP00000309953:R216C	R	-	1	0	EFEMP2	65393985	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.489000	0.45285	2.644000	0.89710	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	0	0	1	119	454	1	145	0	1	1	386	1	145	11		0	0	0	0	0	2	1	1	114	447	1	143	15								-20.000000	1	1	121412	1	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BANF1	8815	broad.mit.edu	37	11	65770776	65770776	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65770776C>A	ENST00000312175.2	+	2	563	c.55C>A	c.(55-57)Cca>Aca	p.P19T	EIF1AD_ENST00000533544.1_5'Flank|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000527348.1_Missense_Mutation_p.P19T|EIF1AD_ENST00000527249.1_5'Flank|BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron|EIF1AD_ENST00000529964.1_5'Flank|EIF1AD_ENST00000312234.2_5'Flank|EIF1AD_ENST00000525767.1_5'Flank|EIF1AD_ENST00000526451.1_5'Flank	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1			3					GGGGGAGAAGCCAGTGGGGAG	0.542000																								0							SO:0001583	missense			ENST00000312175.2	1	1	hg19	CCDS8125.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074526	0.76415	.	.	ENSG00000175334	ENST00000312175;ENST00000445560;ENST00000530204;ENST00000533166;ENST00000527348	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.57	4.57	0.56435	.	0.115747	0.64402	D	0.000013	T	0.55986	0.1955	.	.	.	0.53688	D	0.999979	P	0.35174	0.488	P	0.46850	0.529	T	0.51164	-0.8740	9	0.25106	T	0.35	-0.3442	14.8945	0.70633	0.0:1.0:0.0:0.0	.	19	O75531	BAF_HUMAN	T	19	ENSP00000310275:P19T;ENSP00000416128:P19T;ENSP00000431785:P19T;ENSP00000433760:P19T;ENSP00000432867:P19T	ENSP00000310275:P19T	P	+	1	0	BANF1	65527352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.197000	0.51028	2.381000	0.81170	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	BANF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391340.1	1	0	1	41	153	0	47	1	1	344	700	0	47	2		0	0	0	0	0	2	1	1	39	148	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CATSPER1	117144	broad.mit.edu	37	11	65784598	65784598	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65784598T>G	ENST00000312106.5	-	11	2386	c.2249A>C	c.(2248-2250)gAg>gCg	p.E750A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1			44					CTGCTCCTGCTCCACGCTTGC	0.652000																								0							SO:0001583	missense			ENST00000312106.5	1	1	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191042	0.58017	.	.	ENSG00000175294	ENST00000312106	D	0.97870	-4.58	5.39	5.39	0.77823	.	0.000000	0.32578	U	0.005910	D	0.97390	0.9146	L	0.34521	1.04	0.35202	D	0.774331	D	0.76494	0.999	D	0.80764	0.994	D	0.99951	1.1543	10	0.72032	D	0.01	-30.7008	11.8523	0.52417	0.0:0.0:0.0:1.0	.	750	Q8NEC5	CTSR1_HUMAN	A	750	ENSP00000309052:E750A	ENSP00000309052:E750A	E	-	2	0	CATSPER1	65541174	1.000000	0.71417	0.888000	0.34837	0.286000	0.27126	4.556000	0.60775	2.048000	0.60808	0.524000	0.50904	GAG		TCGA-IB-7651-01A-11D-2154-08	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	0	15	154	0	36	0	1.369243e-01	1	6	0	36	2		0	0	0	0	0	2	1	9.998864e-01	15	152	0	35	2								-7.435773	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.620000	1.000000	1.000000	0.936543	0.990000	1	8.200000e-01	1
CATSPER1	117144	broad.mit.edu	37	11	65789270	65789270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65789270G>T	ENST00000312106.5	-	3	1647	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	p.L504I(1)		44					AAGTACGAGAGGCCCAGGGCG	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000312106.5	1	1	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873057	0.51695	.	.	ENSG00000175294	ENST00000312106	D	0.98531	-4.98	4.7	-6.21	0.02065	Ion transport (1);	0.934142	0.08680	N	0.909567	D	0.96331	0.8803	L	0.46741	1.465	0.09310	N	1	P	0.43750	0.816	P	0.52109	0.69	D	0.92423	0.5947	10	0.45353	T	0.12	-2.6813	3.1811	0.06584	0.542:0.1214:0.2138:0.1228	.	504	Q8NEC5	CTSR1_HUMAN	I	504	ENSP00000309052:L504I	ENSP00000309052:L504I	L	-	1	0	CATSPER1	65545846	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.250000	0.02885	-1.305000	0.02327	0.448000	0.29417	CTC		TCGA-IB-7651-01A-11D-2154-08	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1	71	288	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	70	283	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CATSPER1	117144	broad.mit.edu	37	11	65790401	65790401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65790401C>T	ENST00000312106.5	-	2	1485	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1			44					ATGAAAGTTTCAAAGGCCAAG	0.537000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000312106.5	1	1	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423332	0.83559	.	.	ENSG00000175294	ENST00000312106	D	0.97642	-4.47	5.62	4.71	0.59529	.	0.000000	0.33272	N	0.005097	D	0.95834	0.8644	L	0.47190	1.495	0.28563	N	0.911045	P	0.37573	0.6	P	0.45343	0.477	D	0.92427	0.5950	10	0.44086	T	0.13	-18.6629	11.9808	0.53119	0.1731:0.8269:0.0:0.0	.	450	Q8NEC5	CTSR1_HUMAN	K	450	ENSP00000309052:E450K	ENSP00000309052:E450K	E	-	1	0	CATSPER1	65546977	1.000000	0.71417	0.138000	0.22173	0.034000	0.12701	3.104000	0.50306	1.372000	0.46190	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	0	33	439	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	32	431	0	83	2								-3.318795	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.830000	0.580000	1.000000	1.000000	0.835493	0.830000	0	6.900000e-01	1
CATSPER1	117144	broad.mit.edu	37	11	65792817	65792817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65792817C>T	ENST00000312106.5	-	1	1171	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1			44					GACTCCTGTACGAGAAGCAGC	0.597000																								0							SO:0001583	missense			ENST00000312106.5	1	1	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866270	0.02590	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	2.15	-4.29	0.03721	.	.	.	.	.	D	0.83524	0.5273	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.76187	-0.3051	9	0.16896	T	0.51	.	5.2396	0.15464	0.0:0.5208:0.1772:0.302	.	345	Q8NEC5	CTSR1_HUMAN	H	345	ENSP00000309052:R345H	ENSP00000309052:R345H	R	-	2	0	CATSPER1	65549393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.628000	0.02031	-1.542000	0.01725	-0.501000	0.04562	CGT		TCGA-IB-7651-01A-11D-2154-08	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	0	28	276	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	28	269	0	48	2								-10.188000	1	1	121412	2	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.740000	1.000000	1.000000	0.966562	0.990000	1	9.000000e-01	1
CATSPER1	117144	broad.mit.edu	37	11	65793057	65793057	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793057C>T	ENST00000312106.5	-	1	931	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1			44					gtggtactcgctgtgatagtC	0.577000																								0							SO:0001583	missense			ENST00000312106.5	0	1	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	8.745	0.919916	0.17982	.	.	ENSG00000175294	ENST00000312106	D	0.96716	-4.1	3.21	-3.69	0.04450	.	.	.	.	.	D	0.90738	0.7093	L	0.47716	1.5	0.09310	N	1	B	0.29432	0.244	B	0.17098	0.017	T	0.80834	-0.1205	9	0.59425	D	0.04	.	1.6208	0.02713	0.134:0.3752:0.1319:0.3588	.	265	Q8NEC5	CTSR1_HUMAN	N	265	ENSP00000309052:S265N	ENSP00000309052:S265N	S	-	2	0	CATSPER1	65549633	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.870000	0.01641	-0.918000	0.03808	0.460000	0.39030	AGC		TCGA-IB-7651-01A-11D-2154-08	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	0	14	75	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.997930e-01	13	73	0	10	2								-10.250010	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998335	0.990000	1	9.900000e-01	1
CATSPER1	117144	broad.mit.edu	37	11	65793392	65793392	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793392T>G	ENST00000312106.5	-	1	596	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1			44					CACCGAGATATTGGGGTCTGC	0.567000																								0							SO:0001583	missense			ENST00000312106.5	1	1	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	3.680	-0.065727	0.07273	.	.	ENSG00000175294	ENST00000312106	D	0.96774	-4.12	3.04	-4.23	0.03789	.	.	.	.	.	T	0.81631	0.4863	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76647	-0.2882	9	0.13470	T	0.59	.	1.3325	0.02138	0.3008:0.1408:0.4097:0.1487	.	153	Q8NEC5	CTSR1_HUMAN	H	153	ENSP00000309052:Q153H	ENSP00000309052:Q153H	Q	-	3	2	CATSPER1	65549968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.741000	0.04855	-1.075000	0.03129	-0.940000	0.02684	CAA		TCGA-IB-7651-01A-11D-2154-08	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1	54	235	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	54	227	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CATSPER1	117144	broad.mit.edu	37	11	65793568	65793568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793568C>T	ENST00000312106.5	-	1	420	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1			44					AGACCAAAGCCTGTGGGGCCA	0.602000																								0							SO:0001583	missense			ENST00000312106.5	1	1	hg19	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	7.161	0.585676	0.13749	.	.	ENSG00000175294	ENST00000312106	D	0.96265	-3.96	3.33	-5.16	0.02857	.	2.916730	0.01422	N	0.014386	D	0.91888	0.7432	L	0.43923	1.385	0.09310	N	1	B	0.22080	0.064	B	0.17722	0.019	T	0.79546	-0.1759	10	0.72032	D	0.01	6.2679	0.6048	0.00750	0.3187:0.2782:0.1112:0.2919	.	95	Q8NEC5	CTSR1_HUMAN	S	95	ENSP00000309052:G95S	ENSP00000309052:G95S	G	-	1	0	CATSPER1	65550144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.734000	0.04843	-0.314000	0.08810	GGC		TCGA-IB-7651-01A-11D-2154-08	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	1	0	1	127	591	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	123	583	0	127	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAL3ST3	89792	broad.mit.edu	37	11	65811009	65811009	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65811009G>A	ENST00000312006.4	-	3	546	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3			14					AGGTTGTGGCGCTCGGCAAAG	0.662000																								0							SO:0001583	missense			ENST00000312006.4	1	1	hg19	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859821	0.17178	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99735	-6.58;-6.58	4.49	3.51	0.40186	.	0.151298	0.42548	D	0.000688	D	0.98947	0.9642	M	0.79011	2.435	0.50467	D	0.999871	B	0.21753	0.06	B	0.15484	0.013	D	0.99917	1.1232	10	0.66056	D	0.02	-23.8739	10.4288	0.44395	0.0:0.0:0.7013:0.2987	.	89	Q96A11	G3ST3_HUMAN	C	89	ENSP00000308591:R89C;ENSP00000434829:R89C	ENSP00000308591:R89C	R	-	1	0	GAL3ST3	65567585	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	2.107000	0.41844	2.213000	0.71641	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	1	0	0	20	202	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999962e-01	20	201	0	30	2								-20.000000	1	1	121228	4	31	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.680000	1.000000	1.000000	0.950583	0.990000	1	8.600000e-01	1
SF3B2	10992	broad.mit.edu	37	11	65829183	65829183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65829183G>T	ENST00000322535.6	+	15	1855	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	SF3B2_ENST00000528302.1_Missense_Mutation_p.K585N	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa			41					CACGACTGAAGGAGAAGAAGC	0.517000																								0							SO:0001583	missense			ENST00000322535.6	1	1	hg19	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.295452|4.295452	0.81025|0.81025	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.65|5.65	4.74|4.74	0.60224|0.60224	PSP, proline-rich (1);|.	0.093473|.	0.64402|.	D|.	0.000001|.	T|T	0.76385|0.76385	0.3980|0.3980	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71656|.	0.974|.	T|T	0.78588|0.78588	-0.2146|-0.2146	9|5	0.87932|.	D|.	0|.	-34.11|-34.11	12.2431|12.2431	0.54555|0.54555	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	602|.	Q13435|.	SF3B2_HUMAN|.	N|M	585;602;506|23	.|.	ENSP00000318861:K602N|.	K|R	+|+	3|2	2|0	SF3B2|SF3B2	65585759|65585759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.361000|3.361000	0.52306|0.52306	1.393000|1.393000	0.46605|0.46605	0.557000|0.557000	0.71058|0.71058	AAG|AGG		TCGA-IB-7651-01A-11D-2154-08	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2	1	0	1	15	260	0	55	1	1	108	760	0	55	2		0	0	0	0	0	2	1	9.998549e-01	15	252	0	54	2								-3.018304	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.660000	0.380000	1.000000	1.000000	0.680612	0.660000	0	5.000000e-01	8.600000e-01
DNHD1	144132	broad.mit.edu	37	11	6587919	6587919	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6587919A>G	ENST00000527990.2	+	33	11309	c.11309A>G	c.(11308-11310)tAt>tGt	p.Y3770C	DNHD1_ENST00000254579.6_Missense_Mutation_p.Y3770C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1			55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)			TGCAGAGAGTATCCTGAACTC	0.527000																								0							SO:0001583	missense			ENST00000527990.2	1	1	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	9.228	1.035064	0.19590	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.25749	1.78;1.78	4.52	1.55	0.23275	.	1.253460	0.05804	N	0.612835	T	0.12561	0.0305	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29212	-1.0019	10	0.87932	D	0	3.8543	5.9195	0.19073	0.1776:0.1562:0.6662:0.0	.	2858;38;3770	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	C	3770;3770;38;38	ENSP00000254579:Y3770C;ENSP00000436180:Y3770C	ENSP00000254579:Y3770C	Y	+	2	0	DNHD1	6544495	0.009000	0.17119	0.015000	0.15790	0.045000	0.14185	0.726000	0.25984	0.234000	0.21139	-0.146000	0.13790	TAT		TCGA-IB-7651-01A-11D-2154-08	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1	15	79	0	27	0	2.920962e-02	0	2	0	27	2		0	0	0	0	0	2	1	9.999040e-01	15	77	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998848	0.990000	1	9.900000e-01	1
DNHD1	144132	broad.mit.edu	37	11	6588955	6588955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6588955G>A	ENST00000527990.2	+	34	12216	c.12216G>A	c.(12214-12216)acG>acA	p.T4072T	DNHD1_ENST00000254579.6_Silent_p.T4072T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1			55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)			ATGAAAACACGTATGCTCCCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000527990.2	1	1	hg19	CCDS44532.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1	86	353	0	107	0	0	0	1	0	107	2		0	0	0	0	0	2	1	1	85	348	0	106	2								-20.000000	1	1	121022	5	41	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNHD1	144132	broad.mit.edu	37	11	6592149	6592149	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6592149G>A	ENST00000527990.2	+	40	13407	c.13407G>A	c.(13405-13407)ccG>ccA	p.P4469P	DNHD1_ENST00000254579.6_Silent_p.P4469P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1			55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)			CCGACGCCCCGTGGTCAGTGC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000527990.2	1	1	hg19	CCDS44532.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	1	0	1	67	273	0	49	0	1.037156e-01	1	2	0	49	2		0	0	0	0	0	2	1	1	66	273	0	49	2								-3.495653	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PACS1	55690	broad.mit.edu	37	11	65988131	65988131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65988131C>T	ENST00000320580.4	+	9	1101	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1		RBM14/PACS1(2)	37					ATGTGTCCCGCGAGCAGATCC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000320580.4	1	1	hg19	CCDS8129.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	1	0	1	44	248	0	74	1	1	27	199	0	74	2		0	0	0	0	0	2	1	1	44	243	0	73	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
KLC2	64837	broad.mit.edu	37	11	66033168	66033168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66033168C>T	ENST00000417856.1	+	12	1620	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	RAB1B_ENST00000527397.1_5'Flank|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000316924.5_Silent_p.Y459Y|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394066.2_Silent_p.Y382Y|KLC2_ENST00000394065.2_Silent_p.Y320Y|KLC2_ENST00000394078.1_Intron|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394067.2_Silent_p.Y459Y|KLC2_ENST00000421552.1_Silent_p.Y382Y	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2			24					GGGCCCTATACCGGCGCCAGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000417856.1	1	1	hg19	CCDS8130.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	1	0	0	12	243	0	27	1	9.685919e-01	7	114	0	27	2		0	0	0	0	0	2	1	9.990514e-01	11	238	0	27	2								-14.142480	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.570000	0.310000	1.000000	0.550000	0.601365	0.570000	0	4.200000e-01	7.700000e-01
RAB1B	81876	broad.mit.edu	37	11	66043577	66043577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043577C>T	ENST00000311481.6	+	6	621	c.474C>T	c.(472-474)gtC>gtT	p.V158V	RAB1B_ENST00000527397.1_Silent_p.V126V|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|RP11-867G23.4_ENST00000528650.1_RNA|CNIH2_ENST00000528852.1_5'Flank|CNIH2_ENST00000311445.6_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family			5					CCACCAATGTCGAGCAGGCGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000311481.6	1	1	hg19	CCDS31613.1	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212752	0.09757	.	.	ENSG00000174903	ENST00000314965	.	.	.	3.9	-7.79	0.01218	.	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59332	-0.7474	5	0.52906	T	0.07	.	2.8061	0.05428	0.1647:0.0972:0.3771:0.361	.	.	.	.	L	158	.	ENSP00000313814:S158L	S	+	2	0	RAB1B	65800153	0.002000	0.14202	0.181000	0.23098	0.807000	0.45602	-1.994000	0.01474	-3.387000	0.00174	0.313000	0.20887	TCG		TCGA-IB-7651-01A-11D-2154-08	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	1	0	1	24	112	0	27	1	1	215	680	0	27	2		0	0	0	0	0	2	1	9.999998e-01	24	110	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
RAB1B	81876	broad.mit.edu	37	11	66043694	66043694	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043694C>T	ENST00000311481.6	+	6	738	c.591C>T	c.(589-591)ggC>ggT	p.G197G	RAB1B_ENST00000527397.1_Silent_p.G165G|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|RP11-867G23.4_ENST00000528650.1_RNA|CNIH2_ENST00000528852.1_5'Flank|CNIH2_ENST00000311445.6_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family			5					AGCCGGCTGGCGGTGGCTGTT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000311481.6	1	1	hg19	CCDS31613.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	1	0	1	17	62	0	19	1	1	156	575	0	19	2		0	0	0	0	0	2	1	9.999818e-01	16	62	0	19	2								-20.000000	1	1	121292	3	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
YIF1A	10897	broad.mit.edu	37	11	66052203	66052203	+	Missense_Mutation	SNP	C	C	T	rs144345497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66052203C>T	ENST00000376901.4	-	8	971	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000471387.2_Silent_p.P149P	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)			9					TGCCGGGGGACGGGGCCCCCC	0.652000																								0							SO:0001583	missense			ENST00000376901.4	1	1	hg19	CCDS8132.1	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457601	0.12342	2.28E-4	0.0	ENSG00000174851	ENST00000496746;ENST00000359461;ENST00000376901;ENST00000376904	T;T	0.43688	0.94;0.94	5.66	3.72	0.42706	.	0.739902	0.13028	N	0.419526	T	0.22475	0.0542	N	0.03608	-0.345	0.09310	N	1	B	0.18610	0.029	B	0.26202	0.067	T	0.26018	-1.0115	10	0.30078	T	0.28	-9.9507	10.6611	0.45702	0.0:0.7933:0.1328:0.074	.	263	O95070	YIF1A_HUMAN	I	49;211;263;267	ENSP00000352437:V211I;ENSP00000366098:V263I	ENSP00000352437:V211I	V	-	1	0	YIF1A	65808779	0.005000	0.15991	0.001000	0.08648	0.073000	0.16967	1.543000	0.36147	0.700000	0.31782	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	1	0	1	50	185	0	26	1	1	198	332	0	26	2		0	0	0	0	0	2	1	1	50	182	0	26	2								-3.610848	1	1	121046	6	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM151A	256472	broad.mit.edu	37	11	66062461	66062461	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66062461C>A	ENST00000327259.4	+	2	888	c.744C>A	c.(742-744)ggC>ggA	p.G248G		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A			11					CCAACGAGGGCCTGGACGACT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000327259.4	1	1	hg19	CCDS8133.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	1	0	1	19	61	0	24	1	5.328922e-01	2	5	0	24	2		0	0	0	0	0	2	1	9.999965e-01	19	61	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
CD248	57124	broad.mit.edu	37	11	66083499	66083499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66083499C>T	ENST00000311330.3	-	1	1016	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin			26					CAATAACACTCGAAGCCACCA	0.607000																								0							SO:0001583	missense			ENST00000311330.3	1	1	hg19	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611796	0.66558	.	.	ENSG00000174807	ENST00000311330	D	0.92149	-2.98	4.56	4.56	0.56223	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	1.102050	0.07089	N	0.838496	D	0.93360	0.7883	L	0.27975	0.815	0.41655	D	0.989157	D	0.76494	0.999	D	0.69654	0.965	D	0.88052	0.2788	10	0.39692	T	0.17	-13.7102	14.8448	0.70251	0.0:1.0:0.0:0.0	.	334	Q9HCU0	CD248_HUMAN	K	334	ENSP00000308117:E334K	ENSP00000308117:E334K	E	-	1	0	CD248	65840075	0.943000	0.32029	0.996000	0.52242	0.741000	0.42261	1.916000	0.39986	2.350000	0.79820	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	1	0	1	45	171	0	57	0	1	0	294	0	57	2		0	0	0	0	0	2	1	1	45	171	0	56	2								-3.592118	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIN1	9610	broad.mit.edu	37	11	66102411	66102411	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66102411G>T	ENST00000311320.4	-	6	985	c.859C>A	c.(859-861)Cta>Ata	p.L287I	RIN1_ENST00000530056.1_Missense_Mutation_p.L182I|RIN1_ENST00000424433.2_Missense_Mutation_p.L182I|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1			14					TCCCTCCGTAGCAGCTGGCAA	0.711000																								0							SO:0001583	missense			ENST00000311320.4	1	1	hg19	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741447	0.49151	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.17854	2.93;2.74;2.25	4.26	4.26	0.50523	.	0.428856	0.18284	N	0.145939	T	0.28234	0.0697	M	0.61703	1.905	0.28014	N	0.934784	B;D	0.58268	0.32;0.982	B;P	0.51657	0.081;0.676	T	0.06588	-1.0818	10	0.49607	T	0.09	-10.9273	12.5372	0.56147	0.0:0.0:1.0:0.0	.	182;287	E9PNR2;Q13671	.;RIN1_HUMAN	I	287;182;182	ENSP00000310406:L287I;ENSP00000400560:L182I;ENSP00000432798:L182I	ENSP00000310406:L287I	L	-	1	2	RIN1	65858987	0.968000	0.33430	0.996000	0.52242	0.376000	0.30014	1.680000	0.37607	2.099000	0.63709	0.462000	0.41574	CTA		TCGA-IB-7651-01A-11D-2154-08	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	1	0	1	22	99	0	21	1	9.981223e-01	21	28	0	21	2		0	0	0	0	0	2	1	9.999993e-01	22	97	0	20	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
BRMS1	25855	broad.mit.edu	37	11	66109606	66109606	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66109606G>A	ENST00000359957.3	-	2	260	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1			5					CTGCCGCTCCGCTCCTCCTCA	0.567000													GBM(7;55 307 2662 20856 28942)											0							SO:0001583	missense			ENST00000359957.3	1	1	hg19	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031453	0.75504	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.49	4.49	0.54785	.	0.435802	0.22217	N	0.063014	T	0.38639	0.1048	L	0.36672	1.1	0.31392	N	0.677761	D;D	0.67145	0.979;0.996	B;P	0.47573	0.183;0.55	T	0.50808	-0.8784	9	0.87932	D	0	-21.9512	11.0319	0.47779	0.0:0.1891:0.8109:0.0	.	34;34	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	W	34	.	ENSP00000353042:R34W	R	-	1	2	BRMS1	65866182	0.865000	0.29922	0.991000	0.47740	0.987000	0.75469	3.129000	0.50500	2.234000	0.73211	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	1	0	1	30	314	0	47	1	9.999999e-01	46	225	0	47	2		0	0	0	0	0	2	1	1	30	302	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.710000	1.000000	1.000000	0.951582	0.990000	1	8.600000e-01	1
SLC29A2	3177	broad.mit.edu	37	11	66136654	66136654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66136654G>A	ENST00000357440.2	-	4	520	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SLC29A2_ENST00000311161.7_Missense_Mutation_p.R98C|SLC29A2_ENST00000544554.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000546034.1_Missense_Mutation_p.R98C	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2			10				Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCCAGAATGCGCACCGTCTCC	0.652000																								0							SO:0001583	missense			ENST00000357440.2	0	1	hg19	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513346	0.44660	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.80653	1.77;-1.4;-1.4;-1.4	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.974	D	0.91518	0.5232	10	0.87932	D	0	-16.9786	9.4636	0.38800	0.0:0.0:0.7887:0.2113	.	98;98	G5E943;Q14542	.;S29A2_HUMAN	C	98	ENSP00000311250:R98C;ENSP00000350024:R98C;ENSP00000439456:R98C;ENSP00000440329:R98C	ENSP00000311250:R98C	R	-	1	0	SLC29A2	65893230	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	4.983000	0.63832	2.207000	0.71202	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	1	0	1	13	31	0	11	1	9.999497e-01	27	26	0	11	2		0	0	0	0	0	2	1	9.997206e-01	12	30	0	11	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999935	0.990000	1	9.900000e-01	1
NPAS4	266743	broad.mit.edu	37	11	66192584	66192584	+	Silent	SNP	G	G	A	rs151135507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66192584G>A	ENST00000311034.2	+	7	2399	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4			49					GGGCCCCATCGCCTTGCAACA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000311034.2	1	1	hg19	CCDS8138.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	1	0	1	96	375	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	95	370	0	77	2								-20.000000	1	1	121406	2	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RRP8	23378	broad.mit.edu	37	11	6621780	6621780	+	Missense_Mutation	SNP	C	C	T	rs146302834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6621780C>T	ENST00000254605.6	-	6	1304	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RRP8_ENST00000534343.1_Missense_Mutation_p.R80H	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)			13					ATCCTCAAAGCGGCTGCTGAC	0.498000																								0							SO:0001583	missense			ENST00000254605.6	1	1	hg19	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037135	0.93630	0.0	1.16E-4	ENSG00000132275	ENST00000254605;ENST00000534343	T;T	0.60920	0.15;0.15	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75158	-0.3416	10	0.62326	D	0.03	-1.3872	18.8347	0.92157	0.0:1.0:0.0:0.0	.	396	O43159	RRP8_HUMAN	H	396;80	ENSP00000254605:R396H;ENSP00000436960:R80H	ENSP00000254605:R396H	R	-	2	0	RRP8	6578356	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.736000	0.74811	2.793000	0.96121	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	1	0	1	32	156	0	38	1	9.999894e-01	34	58	0	38	2		0	0	0	0	0	2	1	1	32	151	0	38	2								-3.222479	1	1	121412	1	30	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
RRP8	23378	broad.mit.edu	37	11	6622562	6622562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6622562C>T	ENST00000254605.6	-	3	851	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	RRP8_ENST00000534343.1_Intron|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000537806.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)			13					CCCATCCAGCCGCTGTGCCAT	0.607000																								0							SO:0001583	missense			ENST00000254605.6	1	1	hg19	CCDS31411.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.83	3.900420	0.72754	2.27E-4	0.0	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	.	0.058855	0.64402	D	0.000002	T	0.32071	0.0817	N	0.20685	0.6	0.80722	D	1	P	0.44816	0.844	B	0.32149	0.141	T	0.17198	-1.0377	10	0.42905	T	0.14	-6.5464	18.7357	0.91753	0.0:1.0:0.0:0.0	.	245	O43159	RRP8_HUMAN	Q	245	ENSP00000254605:R245Q;ENSP00000436246:R245Q	ENSP00000254605:R245Q	R	-	2	0	RRP8	6579138	1.000000	0.71417	0.767000	0.31495	0.969000	0.65631	5.095000	0.64529	2.773000	0.95371	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	1	0	1	22	148	0	28	1	9.933747e-01	15	42	0	28	2		0	0	0	0	0	2	1	9.999992e-01	21	148	0	28	2								-20.000000	1	1	121410	2	32	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998027	0.990000	1	9.900000e-01	1
PELI3	246330	broad.mit.edu	37	11	66243552	66243552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66243552T>C	ENST00000320740.7	+	8	1484	c.1324T>C	c.(1324-1326)Ttc>Ctc	p.F442L	CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.F418L|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3			15					CACCCATGCTTTCCATGCCGC	0.672000																								0							SO:0001583	missense			ENST00000320740.7	1	1	hg19	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430539	0.83776	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.50001	0.76;0.76	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.946;0.977	T	0.69661	-0.5085	10	0.62326	D	0.03	-24.7935	11.9441	0.52918	0.0:0.0:0.0:1.0	.	418;442	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	L	418;442	ENSP00000309848:F418L;ENSP00000322532:F442L	ENSP00000322532:F442L	F	+	1	0	PELI3	66000128	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.712000	0.84684	1.919000	0.55581	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	1	0	1	21	74	0	15	1	9.994850e-01	11	37	0	15	2		0	0	0	0	0	2	1	9.999987e-01	21	71	0	13	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
DPP3	10072	broad.mit.edu	37	11	66249865	66249865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66249865G>A	ENST00000360510.2	+	2	259	c.194G>A	c.(193-195)cGc>cAc	p.R65H	CTD-3074O7.5_ENST00000527092.1_RNA|DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000532677.1_Missense_Mutation_p.R84H|CTD-3074O7.5_ENST00000525142.1_RNA|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000531863.1_Missense_Mutation_p.R85H			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3			23					CTGCTCAGCCGCCTCTTCCGC	0.642000																								0							SO:0001583	missense			ENST00000360510.2	1	1	hg19	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518934	0.85495	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000526515;ENST00000530165;ENST00000347422;ENST00000531314;ENST00000531354	T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.71	4.81	0.61882	.	0.155567	0.52532	N	0.000063	T	0.66147	0.2760	M	0.75615	2.305	0.42527	D	0.993026	D;D	0.89917	1.0;0.981	D;P	0.67900	0.954;0.548	T	0.70883	-0.4751	10	0.72032	D	0.01	.	12.79	0.57528	0.0792:0.0:0.9208:0.0	.	84;65	G3V1D3;Q9NY33	.;DPP3_HUMAN	H	85;84;65;65;65;65;65;65;65;65	ENSP00000432782:R85H;ENSP00000435284:R84H;ENSP00000353701:R65H;ENSP00000389943:R65H;ENSP00000440502:R65H;ENSP00000431606:R65H;ENSP00000436941:R65H;ENSP00000436820:R65H;ENSP00000432618:R65H	ENSP00000309957:R65H	R	+	2	0	DPP3	66006441	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.129000	0.42055	1.426000	0.47256	-0.222000	0.12452	CGC		TCGA-IB-7651-01A-11D-2154-08	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	0	0	0	12	408	0	68	1	9.767401e-01	16	201	0	68	2		0	0	0	0	0	2	1	9.990645e-01	12	402	0	66	2								-3.525719	1	1	121412	8	42	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.350000	0.180000	1.000000	0.330000	0.384153	0.350000	0	2.600000e-01	4.700000e-01
DPP3	10072	broad.mit.edu	37	11	66254053	66254053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254053C>T	ENST00000360510.2	+	4	468	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000532677.1_Nonsense_Mutation_p.Q154*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3			23					GGCTGCTCAGCAGCACCCAGA	0.602000																								0							SO:0001587	stop_gained			ENST00000360510.2	0	1	hg19	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852859	0.32699	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000347422;ENST00000531354	.	.	.	4.91	2.94	0.34122	.	0.331918	0.31963	N	0.006796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	12.0857	0.53695	0.0:0.4526:0.5474:0.0	.	.	.	.	X	155;154;135;135;135;33;105;105;33;33;135;135	.	ENSP00000309957:Q135X	Q	+	1	0	DPP3	66010629	1.000000	0.71417	0.937000	0.37676	0.403000	0.30841	3.073000	0.50057	1.035000	0.39972	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	0	0	0	14	645	0	120	0	8.923724e-01	0	182	0	120	2		0	0	0	0	0	2	1	9.997187e-01	14	632	0	120	2								-3.016851	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.250000	0.140000	1.000000	0.250000	0.294042	0.250000	0	1.900000e-01	3.500000e-01
DPP3	10072	broad.mit.edu	37	11	66254796	66254796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254796G>A	ENST00000360510.2	+	5	621	c.556G>A	c.(556-558)Gac>Aac	p.D186N	DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000532677.1_Missense_Mutation_p.D205N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N|DPP3_ENST00000531863.1_Missense_Mutation_p.D206N			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3			23					ATTGGCCCAGGACTTTCTGGA	0.537000																								0							SO:0001583	missense			ENST00000360510.2	1	1	hg19	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482673	0.44147	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.89	3.72	0.42706	.	0.310982	0.39407	N	0.001362	T	0.17662	0.0424	L	0.54965	1.715	0.32206	N	0.577221	B;B	0.15719	0.014;0.005	B;B	0.22152	0.022;0.038	T	0.06356	-1.0831	10	0.32370	T	0.25	.	5.0196	0.14354	0.2599:0.0:0.7401:0.0	.	205;186	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	206;205;186;186;186;84;156;156;84;84;186	ENSP00000432782:D206N;ENSP00000435284:D205N;ENSP00000353701:D186N;ENSP00000389943:D186N;ENSP00000440502:D186N;ENSP00000437101:D84N;ENSP00000431606:D156N;ENSP00000436941:D156N;ENSP00000434518:D84N;ENSP00000432618:D186N	ENSP00000353701:D186N	D	+	1	0	DPP3	66011372	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.591000	0.46163	2.415000	0.81967	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	1	0	1	57	255	0	61	1	1	54	110	0	61	2		0	0	0	0	0	2	1	1	56	250	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP3	10072	broad.mit.edu	37	11	66255388	66255388	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66255388C>A	ENST00000360510.2	+	6	642	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000532677.1_Missense_Mutation_p.L212I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I|DPP3_ENST00000531863.1_Missense_Mutation_p.L213I			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3			23					CTTCTAGAACCTCAGTGCCTA	0.562000																								0							SO:0001583	missense			ENST00000360510.2	1	1	hg19	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492621	0.12702	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000532019;ENST00000526515;ENST00000530165;ENST00000533725;ENST00000543807;ENST00000531354	T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	4.0	2.09	0.27110	.	0.123537	0.56097	D	0.000032	T	0.08447	0.0210	N	0.05554	-0.025	0.34439	D	0.699378	B;B	0.02656	0.0;0.0	B;B	0.12156	0.005;0.007	T	0.26985	-1.0087	10	0.13108	T	0.6	.	7.1169	0.25421	0.1692:0.7354:0.0:0.0954	.	212;193	G3V1D3;Q9NY33	.;DPP3_HUMAN	I	213;212;193;193;193;91;163;163;91;91;193	ENSP00000432782:L213I;ENSP00000435284:L212I;ENSP00000353701:L193I;ENSP00000389943:L193I;ENSP00000440502:L193I;ENSP00000437101:L91I;ENSP00000431606:L163I;ENSP00000436941:L163I;ENSP00000434518:L91I;ENSP00000432618:L193I	ENSP00000353701:L193I	L	+	1	0	DPP3	66011964	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.600000	0.36762	0.625000	0.30304	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	1	0	1	42	169	0	50	1	1	67	103	0	50	2		0	0	0	0	0	2	1	1	41	163	0	48	2								-3.279719	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP3	10072	broad.mit.edu	37	11	66259196	66259196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66259196C>T	ENST00000360510.2	+	9	1022	c.957C>T	c.(955-957)cgC>cgT	p.R319R	DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000532677.1_Silent_p.R338R|DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000541961.1_Silent_p.R319R|DPP3_ENST00000531863.1_Silent_p.R339R			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3			23					AGAGCTACCGCGACCCCTTTG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000360510.2	1	1	hg19	CCDS8141.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	1	0	1	247	1045	0	235	1	1	63	138	0	235	2		0	0	0	0	0	2	1	1	241	1019	0	232	2								-20.000000	1	1	121412	12	45	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ILK	3611	broad.mit.edu	37	11	6630170	6630170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6630170C>A	ENST00000396751.2	+	5	960	c.504C>A	c.(502-504)ttC>ttA	p.F168L	RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000420936.2_Missense_Mutation_p.F168L|ILK_ENST00000537806.1_Missense_Mutation_p.F34L|ILK_ENST00000299421.4_Missense_Mutation_p.F168L|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000528995.1_Missense_Mutation_p.S136Y	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase			1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)			AGGACACATTCTGGAAGGGGA	0.532000																								0							SO:0001583	missense			ENST00000396751.2	0	1	hg19	CCDS7768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.42|13.42	2.232771|2.232771	0.39498|0.39498	.|.	.|.	ENSG00000166333|ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000396751|ENST00000528995	T;D;T;T|T	0.81499|0.80214	-1.11;-1.5;-1.11;-1.11|-1.35	5.14|5.14	1.2|1.2	0.21068|0.21068	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B|B	0.24882|0.02656	0.113|0.0	B|B	0.22152|0.01281	0.038|0.0	T|T	0.68135|0.68135	-0.5489|-0.5489	10|9	0.10111|0.62326	T|D	0.7|0.03	.|.	9.0754|9.0754	0.36517|0.36517	0.0:0.6997:0.0:0.3003|0.0:0.6997:0.0:0.3003	.|.	168|136	Q13418|B7Z418	ILK_HUMAN|.	L|Y	168;34;168;168|136	ENSP00000299421:F168L;ENSP00000439606:F34L;ENSP00000403487:F168L;ENSP00000379975:F168L|ENSP00000435323:S136Y	ENSP00000299421:F168L|ENSP00000435323:S136Y	F|S	+|+	3|2	2|0	ILK|ILK	6586746|6586746	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	2.064000|2.064000	0.41432|0.41432	0.072000|0.072000	0.16694|0.16694	0.561000|0.561000	0.74099|0.74099	TTC|TCT		TCGA-IB-7651-01A-11D-2154-08	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	0	0	0	10	631	0	123	1	9.990376e-01	19	774	0	123	2		0	0	0	0	0	2	1	9.966840e-01	11	621	0	122	2								-2.672075	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.190000	0.090000	1.000000	0.180000	0.230973	0.190000	0	1.300000e-01	2.700000e-01
ZDHHC24	254359	broad.mit.edu	37	11	66307147	66307147	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66307147G>T	ENST00000310442.3	-	3	942	c.708C>A	c.(706-708)tcC>tcA	p.S236S	CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24			7					CCAGGTCATAGGAGTGCTGGC	0.711000																								0							SO:0001819	synonymous_variant			ENST00000310442.3	1	1	hg19	CCDS8143.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	1	0	1	27	87	0	22	1	1	36	110	0	22	2		0	0	0	0	0	2	1	1	27	87	0	21	2								-4.053467	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC87	55231	broad.mit.edu	37	11	66359860	66359860	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66359860G>T	ENST00000333861.3	-	1	694	c.627C>A	c.(625-627)atC>atA	p.I209I	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87			28					GAGGCCAGGGGATAGGGCACA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000333861.3	1	1	hg19	CCDS8145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	0	0	0	23	223	1	56		0	0	0	1	56	2		0	0	0	0	0	2	1	9.999994e-01	23	219	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.730000	1.000000	1.000000	0.965073	0.990000	1	9.000000e-01	1
CCS	9973	broad.mit.edu	37	11	66366974	66366974	+	Missense_Mutation	SNP	G	G	A	rs149989199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66366974G>A	ENST00000533244.1	+	4	736	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	CCS_ENST00000310190.4_Missense_Mutation_p.V80M	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase			9					GCCTGGCACCGTGCAGGGGGT	0.632000																								0							SO:0001583	missense			ENST00000533244.1	1	1	hg19	CCDS8146.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.0	4.077420	0.76528	6.82E-4	0.0	ENSG00000173992	ENST00000533244;ENST00000310190	T;T	0.57752	0.38;0.38	5.23	4.31	0.51392	Superoxide dismutase, copper/zinc binding domain (3);	0.189495	0.46442	D	0.000286	T	0.78175	0.4242	H	0.97103	3.94	0.39517	D	0.968446	D	0.89917	1.0	D	0.67231	0.95	T	0.83326	-0.0015	10	0.87932	D	0	.	8.7598	0.34667	0.103:0.0:0.897:0.0	.	99	O14618	CCS_HUMAN	M	99;80	ENSP00000436318:V99M;ENSP00000307870:V80M	ENSP00000307870:V80M	V	+	1	0	CCS	66123550	1.000000	0.71417	0.896000	0.35187	0.900000	0.52787	4.047000	0.57383	1.419000	0.47118	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	0	0	1	37	180	0	28	1	9.999843e-01	26	60	0	28	2		0	0	0	0	0	2	1	1	35	174	0	27	2								-20.000000	1	1	121402	11	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TPP1	1200	broad.mit.edu	37	11	6637257	6637257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637257C>T	ENST00000299427.6	-	9	1184	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	TPP1_ENST00000533371.1_Missense_Mutation_p.R132H|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I			23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Vitamin E(DB00163)	GAAGGTAGGGCGGAACTGGTG	0.488000																								0							SO:0001583	missense			ENST00000299427.6	1	1	hg19	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478376	0.84747	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.92299	-3.01;-3.01	5.56	5.56	0.83823	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.93712	0.7025	10	0.45353	T	0.12	-10.1855	18.5131	0.90925	0.0:1.0:0.0:0.0	.	375	O14773	TPP1_HUMAN	H	375;132	ENSP00000299427:R375H;ENSP00000437066:R132H	ENSP00000299427:R375H	R	-	2	0	TPP1	6593833	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.159000	0.64923	2.623000	0.88846	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2	1	0	1	39	228	0	41	1	1	129	417	0	41	2		0	0	0	0	0	2	1	1	39	223	0	41	2								-3.324601	1	1	121412	4	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
TPP1	1200	broad.mit.edu	37	11	6637890	6637890	+	Splice_Site	SNP	A	A	G	rs112046417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637890A>G	ENST00000299427.6	-	7	947		c.e7+1		TPP1_ENST00000533371.1_Splice_Site|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I			23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Vitamin E(DB00163)	TCTTGGTAGTACCAGGGCTAC	0.582000																								0							SO:0001630	splice_region_variant			ENST00000299427.6	1	1	hg19	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560786	0.45590	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9135	0.52753	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPP1	6594466	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.578000	0.90777	1.711000	0.51337	0.374000	0.22700	.		TCGA-IB-7651-01A-11D-2154-08	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2	1	0	1	65	315	0	61	0	3.022432e-02	1	1	0	61	2		0	0	0	0	0	2	1	1	63	306	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6643477	6643477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643477C>T	ENST00000299441.3	-	21	9841	c.9430G>A	c.(9430-9432)Gca>Aca	p.A3144T	TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			AGCGCACCTGCCACACATGGC	0.657000																								0							SO:0001583	missense			ENST00000299441.3	1	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817471	0.50633	.	.	ENSG00000166341	ENST00000299441	T	0.53206	0.63	4.71	4.71	0.59529	.	0.000000	0.40302	N	0.001140	T	0.34571	0.0902	N	0.17474	0.49	0.42164	D	0.991615	P	0.47409	0.895	P	0.44518	0.452	T	0.08868	-1.0701	10	0.12103	T	0.63	.	16.3911	0.83541	0.0:1.0:0.0:0.0	.	3144	Q96JQ0	PCD16_HUMAN	T	3144	ENSP00000299441:A3144T	ENSP00000299441:A3144T	A	-	1	0	DCHS1	6600053	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.588000	0.82629	2.422000	0.82143	0.313000	0.20887	GCA		TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	0	12	51	0	20	1	9.927897e-01	3	37	0	20	2		0	0	0	0	0	2	1	9.993068e-01	10	51	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999068	0.990000	1	9.900000e-01	1
RBM4B	83759	broad.mit.edu	37	11	66436255	66436255	+	Missense_Mutation	SNP	C	C	T	rs149014922	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66436255C>T	ENST00000525754.1	-	2	1588	c.920G>A	c.(919-921)cGt>cAt	p.R307H	RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H|RP11-658F2.8_ENST00000550837.1_RNA|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B			10					TGCAGCACGACGCAGTGGGCT	0.567000																								0							SO:0001583	missense			ENST00000525754.1	1	1	hg19	CCDS8149.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.82	3.704686	0.68615	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.30981	1.51;1.51	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	M	0.69823	2.125	0.80722	D	1	B	0.27068	0.167	B	0.17098	0.017	T	0.07712	-1.0758	10	0.41790	T	0.15	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	307	Q9BQ04	RBM4B_HUMAN	H	307	ENSP00000433071:R307H;ENSP00000310471:R307H	ENSP00000310471:R307H	R	-	2	0	RBM4B	66192831	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.789000	0.55454	2.937000	0.99478	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	1	0	1	60	344	0	70	1	9.883871e-01	7	35	0	70	2		0	0	0	0	0	2	1	1	58	336	0	68	2								-20.000000	1	1	121412	5	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6643989	6643989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643989C>T	ENST00000299441.3	-	21	9329	c.8918G>A	c.(8917-8919)gGc>gAc	p.G2973D	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			TGACATTGGGCCAGGGGCTGC	0.637000																								0							SO:0001583	missense			ENST00000299441.3	0	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683073	0.47991	.	.	ENSG00000166341	ENST00000299441	T	0.54479	0.57	4.71	3.75	0.43078	.	0.503830	0.15243	N	0.272800	T	0.54367	0.1854	L	0.42245	1.32	0.38260	D	0.941842	D	0.58970	0.984	P	0.52109	0.69	T	0.55780	-0.8087	10	0.37606	T	0.19	.	13.0641	0.59024	0.1608:0.8392:0.0:0.0	.	2973	Q96JQ0	PCD16_HUMAN	D	2973	ENSP00000299441:G2973D	ENSP00000299441:G2973D	G	-	2	0	DCHS1	6600565	0.364000	0.24997	1.000000	0.80357	0.983000	0.72400	0.174000	0.16743	2.450000	0.82876	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1	6	42	0	13	0	9.771828e-01	1	52	0	13	2		0	0	0	0	0	2	1	9.584589e-01	6	38	0	13	2								-12.613930	1	1	120804	1	22	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.620000	1.000000	1.000000	0.965309	0.990000	1	9.600000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6644403	6644403	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644403A>G	ENST00000299441.3	-	21	8915	c.8504T>C	c.(8503-8505)gTg>gCg	p.V2835A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			TGTGGCCTGCACGTGACCCAA	0.567000																								0							SO:0001583	missense			ENST00000299441.3	0	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934826	0.73442	.	.	ENSG00000166341	ENST00000299441	T	0.68624	-0.34	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.35739	N	0.003019	T	0.81740	0.4886	M	0.89968	3.075	0.58432	D	0.999998	D	0.67145	0.996	P	0.58266	0.836	D	0.85659	0.1287	10	0.62326	D	0.03	.	13.6294	0.62186	1.0:0.0:0.0:0.0	.	2835	Q96JQ0	PCD16_HUMAN	A	2835	ENSP00000299441:V2835A	ENSP00000299441:V2835A	V	-	2	0	DCHS1	6600979	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.139000	0.94554	2.092000	0.63282	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1	9	54	0	14	0	9.666536e-01	0	39	0	14	2		0	0	0	0	0	2	1	9.950115e-01	9	53	0	14	2								-17.078490	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.820000	1.000000	1.000000	0.989688	0.990000	1	9.900000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6644979	6644979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644979G>A	ENST00000299441.3	-	21	8339	c.7928C>T	c.(7927-7929)tCa>tTa	p.S2643L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			TGGGTCGCCTGAGCTGACAGT	0.597000																								0							SO:0001583	missense			ENST00000299441.3	0	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929099	0.73327	.	.	ENSG00000166341	ENST00000299441	T	0.43294	0.95	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.38005	N	0.001853	T	0.68109	0.2965	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.70857	-0.4758	10	0.59425	D	0.04	.	17.9244	0.88979	0.0:0.0:1.0:0.0	.	2643	Q96JQ0	PCD16_HUMAN	L	2643	ENSP00000299441:S2643L	ENSP00000299441:S2643L	S	-	2	0	DCHS1	6601555	1.000000	0.71417	0.999000	0.59377	0.276000	0.26787	7.442000	0.80503	2.822000	0.97130	0.650000	0.86243	TCA		TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	0	0	0	10	372	0	74	0	2.140239e-01	0	30	0	74	2		0	0	0	0	0	2	1	9.965829e-01	9	364	0	74	2								-9.949633	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.320000	0.160000	1.000000	0.310000	0.359516	0.320000	0	2.300000e-01	4.500000e-01
DCHS1	8642	broad.mit.edu	37	11	6645358	6645358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6645358C>T	ENST00000299441.3	-	21	7960	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	p.A2517T(1)		103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			TAGTCCACAGCGGCATGGCTG	0.632000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000299441.3	1	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	0.279	-0.987492	0.02180	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	4.78	-3.44	0.04796	Cadherin (4);Cadherin-like (1);	0.801687	0.10522	N	0.664820	T	0.24236	0.0587	N	0.20766	0.605	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27706	-1.0066	10	0.13470	T	0.59	.	6.5608	0.22485	0.1193:0.4814:0.0:0.3993	.	2517	Q96JQ0	PCD16_HUMAN	T	2517	ENSP00000299441:A2517T	ENSP00000299441:A2517T	A	-	1	0	DCHS1	6601934	0.001000	0.12720	0.781000	0.31783	0.363000	0.29612	0.260000	0.18424	-0.169000	0.10834	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1	21	84	0	21	0	8.737707e-01	0	17	0	21	2		0	0	0	0	0	2	1	9.999987e-01	21	82	0	20	2								-3.654773	1	1	121384	1	24	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
SPTBN2	6712	broad.mit.edu	37	11	66455061	66455061	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66455061G>A	ENST00000533211.1	-	35	6890	c.6559C>T	c.(6559-6561)Cgg>Tgg	p.R2187W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					GCCGGGCCCCGAGTCCGGGTC	0.672000																								0							SO:0001583	missense			ENST00000533211.1	1	1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741130	0.69304	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.72051	-0.61;-0.61;-0.62	5.04	5.04	0.67666	.	0.880280	0.09922	N	0.738306	T	0.69424	0.3109	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.57468	0.821	T	0.62647	-0.6810	10	0.66056	D	0.02	.	13.0913	0.59167	0.0:0.1615:0.8385:0.0	.	2187	O15020	SPTN2_HUMAN	W	2187;2187;2187;731	ENSP00000432568:R2187W;ENSP00000311489:R2187W;ENSP00000433593:R2187W	ENSP00000311489:R2187W	R	-	1	2	SPTBN2	66211637	0.000000	0.05858	0.101000	0.21167	0.642000	0.38348	0.244000	0.18124	2.629000	0.89072	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1	47	202	0	48	1	9.787765e-01	10	19	0	48	2		0	0	0	0	0	2	1	1	46	199	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTBN2	6712	broad.mit.edu	37	11	66456195	66456195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66456195G>A	ENST00000533211.1	-	31	6491	c.6160C>T	c.(6160-6162)Cgg>Tgg	p.R2054W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					GCCTCGTGCCGCTTGATGAGG	0.637000																								0							SO:0001583	missense			ENST00000533211.1	1	1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195842	0.78902	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.69306	-0.39;-0.39;-0.39	4.77	3.78	0.43462	.	0.062854	0.64402	D	0.000005	T	0.79522	0.4460	M	0.73430	2.235	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.81593	-0.0862	10	0.87932	D	0	.	11.9891	0.53166	0.0:0.0:0.7502:0.2498	.	2054	O15020	SPTN2_HUMAN	W	2054	ENSP00000432568:R2054W;ENSP00000311489:R2054W;ENSP00000433593:R2054W	ENSP00000311489:R2054W	R	-	1	2	SPTBN2	66212771	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.022000	0.49659	2.477000	0.83638	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1	57	224	0	60	1	9.021854e-01	5	13	0	60	2		0	0	0	0	0	2	1	1	56	217	0	60	2								-20.000000	1	1	121412	1	26	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTBN2	6712	broad.mit.edu	37	11	66460174	66460174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66460174G>A	ENST00000533211.1	-	26	5354	c.5023C>T	c.(5023-5025)Ctg>Ttg	p.L1675L	SPTBN2_ENST00000529997.1_Silent_p.L1675L|SPTBN2_ENST00000309996.2_Silent_p.L1675L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					CCGGCATACAGCTTGTCCACC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000533211.1	1	1	hg19	CCDS8150.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1	51	239	0	44	1	6.525085e-01	6	6	0	44	2		0	0	0	0	0	2	1	1	43	210	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTBN2	6712	broad.mit.edu	37	11	66461759	66461759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66461759C>T	ENST00000533211.1	-	22	4685	c.4354G>A	c.(4354-4356)Gag>Aag	p.E1452K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					CCCTGGTCCTCCTGGGCCAGT	0.642000											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000533211.1	1	1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659003	0.96734	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69778	-0.5053	10	0.23302	T	0.38	.	16.4261	0.83815	0.0:1.0:0.0:0.0	.	1452	O15020	SPTN2_HUMAN	K	1452	ENSP00000432568:E1452K;ENSP00000311489:E1452K;ENSP00000433593:E1452K	ENSP00000311489:E1452K	E	-	1	0	SPTBN2	66218335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.892000	0.69790	2.397000	0.81536	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	0	0	0	13	322	0	53	0	1.158265e-01	1	13	0	53	2		0	0	0	0	0	2	1	9.995217e-01	13	318	0	52	2								-3.383339	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.470000	0.260000	1.000000	0.450000	0.503435	0.470000	0	3.500000e-01	6.300000e-01
SPTBN2	6712	broad.mit.edu	37	11	66466946	66466946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66466946C>T	ENST00000533211.1	-	18	4038	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					TACCAGCTGGCGGCCAGCCTC	0.547000																								0							SO:0001583	missense			ENST00000533211.1	1	1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869278	0.91587	4.55E-4	0.0	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35789	1.29;1.29;1.29	5.16	4.23	0.50019	.	0.157403	0.43919	D	0.000501	T	0.57562	0.2062	M	0.75447	2.3	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.58696	-0.7591	10	0.51188	T	0.08	.	13.2305	0.59941	0.0:0.9195:0.0:0.0805	.	1236	O15020	SPTN2_HUMAN	H	1236	ENSP00000432568:R1236H;ENSP00000311489:R1236H;ENSP00000433593:R1236H	ENSP00000311489:R1236H	R	-	2	0	SPTBN2	66223522	0.023000	0.18921	1.000000	0.80357	0.916000	0.54674	1.257000	0.32932	2.670000	0.90874	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	0	0	0	14	508	0	117	0	3.294956e-02	1	9	0	117	2		0	0	0	0	0	2	1	9.997317e-01	14	501	0	115	2								-3.059495	1	1	121412	3	38	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.320000	0.180000	1.000000	0.310000	0.360377	0.320000	0	2.400000e-01	4.300000e-01
SPTBN2	6712	broad.mit.edu	37	11	66468126	66468126	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66468126C>A	ENST00000533211.1	-	17	3775	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					TTCCCAGGGCCTCCAGTCGCT	0.697000																								0							SO:0001583	missense			ENST00000533211.1	1	1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827036	0.50739	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52754	0.65;0.65;0.65	4.56	0.915	0.19366	.	0.060221	0.64402	D	0.000002	T	0.19446	0.0467	N	0.04724	-0.175	0.37733	D	0.925334	B	0.24186	0.099	B	0.21360	0.034	T	0.08994	-1.0695	10	0.11794	T	0.64	.	6.7507	0.23485	0.0:0.5533:0.0:0.4467	.	1148	O15020	SPTN2_HUMAN	D	1148	ENSP00000432568:E1148D;ENSP00000311489:E1148D;ENSP00000433593:E1148D	ENSP00000311489:E1148D	E	-	3	2	SPTBN2	66224702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.956000	0.29202	0.285000	0.22329	-0.339000	0.08088	GAG		TCGA-IB-7651-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1	41	196	0	35	1	2.857854e-01	3	3	0	35	2		0	0	0	0	0	2	1	1	41	191	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6646958	6646958	+	Splice_Site	SNP	C	C	T	rs148800772	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6646958C>T	ENST00000299441.3	-	18	7143	c.6732G>A	c.(6730-6732)cgG>cgA	p.R2244R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			TCAGCACCAACCTGGACACAA	0.587000																								0							SO:0001630	splice_region_variant			ENST00000299441.3	1	0	hg19	CCDS7771.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1	28	157	0	31	0	9.772892e-01	0	37	0	31	2		0	0	0	0	0	2	1	1	28	155	0	30	2								-3.662418	1	1	121406	265	53	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999900	0.990000	1	9.900000e-01	1
SPTBN2	6712	broad.mit.edu	37	11	66472170	66472170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66472170G>A	ENST00000533211.1	-	15	2908	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	SPTBN2_ENST00000529997.1_Silent_p.S859S|SPTBN2_ENST00000309996.2_Silent_p.S859S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					CCCCGGCCTCGCTGAGCATGG	0.706000																								0							SO:0001819	synonymous_variant			ENST00000533211.1	1	1	hg19	CCDS8150.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1	16	95	0	20	1	2.269755e-01	2	4	0	20	2		0	0	0	0	0	2	1	9.999494e-01	16	93	0	20	2								-20.000000	1	1	121048	2	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.997981	0.990000	1	9.900000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6647793	6647793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6647793C>T	ENST00000299441.3	-	15	6765	c.6354G>A	c.(6352-6354)caG>caA	p.Q2118Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			CTGTACTAGGCTGGATGGAGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000299441.3	1	1	hg19	CCDS7771.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	0	35	447	0	103	1	6.557693e-01	5	25	0	103	2		0	0	0	0	0	2	1	1	36	432	0	103	2								-9.142633	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.860000	0.610000	1.000000	1.000000	0.860877	0.860000	1	7.300000e-01	1
SPTBN2	6712	broad.mit.edu	37	11	66481107	66481107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66481107G>A	ENST00000533211.1	-	8	1098	c.767C>T	c.(766-768)cCc>cTc	p.P256L	RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					CCCACCTTCGGGATCCAGCAG	0.512000																								0							SO:0001583	missense			ENST00000533211.1	1	1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040059	0.75732	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.64618	-0.11;-0.11;-0.11	4.86	4.86	0.63082	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86122	0.1569	10	0.87932	D	0	.	16.9451	0.86228	0.0:0.0:1.0:0.0	.	256	O15020	SPTN2_HUMAN	L	256	ENSP00000432568:P256L;ENSP00000311489:P256L;ENSP00000433593:P256L	ENSP00000311489:P256L	P	-	2	0	SPTBN2	66237683	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	9.595000	0.98260	2.521000	0.84997	0.557000	0.71058	CCC		TCGA-IB-7651-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1	157	624	0	149	1	8.603383e-01	6	10	0	149	2		0	0	0	0	0	2	1	1	153	612	0	146	2								-3.658572	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6651036	6651036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651036G>A	ENST00000299441.3	-	11	5313	c.4902C>T	c.(4900-4902)gtC>gtT	p.V1634V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	p.V1634V(1)		103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			TGACGGTCAGGACCTGCGTGG	0.642000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000299441.3	0	1	hg19	CCDS7771.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	0	0	0	7	342	0	64	0	7.289413e-02	0	19	0	64	2		0	0	0	0	0	2	1	9.785462e-01	7	331	0	63	2								-7.423519	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.250000	0.110000	1.000000	0.230000	0.293505	0.250000	0	1.700000e-01	3.700000e-01
DCHS1	8642	broad.mit.edu	37	11	6652301	6652301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6652301G>T	ENST00000299441.3	-	9	4324	c.3913C>A	c.(3913-3915)Ctc>Atc	p.L1305I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			AGCAGCTGGAGGCTGGCACTT	0.617000																								0							SO:0001583	missense			ENST00000299441.3	0	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792351	0.16258	.	.	ENSG00000166341	ENST00000299441	T	0.53423	0.62	4.73	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.000000	0.35407	N	0.003226	T	0.30039	0.0752	N	0.17631	0.505	0.25427	N	0.988219	B	0.12013	0.005	B	0.16289	0.015	T	0.13953	-1.0490	10	0.18710	T	0.47	.	11.1874	0.48664	0.0:0.0:0.8158:0.1842	.	1305	Q96JQ0	PCD16_HUMAN	I	1305	ENSP00000299441:L1305I	ENSP00000299441:L1305I	L	-	1	0	DCHS1	6608877	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	1.122000	0.31295	1.185000	0.42971	0.467000	0.42956	CTC		TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	0	13	137	0	16	0	3.379452e-01	0	13	0	16	2		0	0	0	0	0	2	1	9.995136e-01	13	132	0	16	2								-18.692580	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.590000	1.000000	1.000000	0.923645	0.990000	1	7.900000e-01	1
RCE1	9986	broad.mit.edu	37	11	66611062	66611062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66611062G>A	ENST00000309657.3	+	1	180	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	RCE1_ENST00000525356.1_5'Flank|RCE1_ENST00000524506.1_Missense_Mutation_p.A46T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1			10					CCTCAGCCTCGCCTGCTCCTA	0.746000																								0							SO:0001583	missense			ENST00000309657.3	0	1	hg19	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693088	0.96793	.	.	ENSG00000173653	ENST00000309657;ENST00000524506	.	.	.	4.51	4.51	0.55191	.	0.162448	0.38326	N	0.001732	T	0.66616	0.2807	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68051	-0.5511	9	0.49607	T	0.09	-10.3498	15.0864	0.72158	0.0:0.0:1.0:0.0	.	46	Q9Y256	FACE2_HUMAN	T	46	.	ENSP00000309163:A46T	A	+	1	0	RCE1	66367638	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.931000	0.87625	2.215000	0.71742	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	1	0	0	14	58	0	8	1	9.903404e-01	12	24	0	8	2		0	0	0	0	0	2	1	9.998249e-01	14	56	0	8	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999605	0.990000	1	9.900000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6661247	6661247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6661247G>A	ENST00000299441.3	-	2	2009	c.1598C>T	c.(1597-1599)gCt>gTt	p.A533V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			CAGTGAGGCAGCCGTAGTGAT	0.587000																								0							SO:0001583	missense			ENST00000299441.3	1	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	4.278	0.050784	0.08243	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.181621	0.26711	N	0.022890	T	0.57227	0.2039	L	0.28115	0.83	0.37390	D	0.912414	D	0.76494	0.999	D	0.83275	0.996	T	0.59685	-0.7408	10	0.36615	T	0.2	.	18.0581	0.89369	0.0:0.0:1.0:0.0	.	533	Q96JQ0	PCD16_HUMAN	V	533	ENSP00000299441:A533V	ENSP00000299441:A533V	A	-	2	0	DCHS1	6617823	1.000000	0.71417	0.231000	0.23993	0.408000	0.30992	3.776000	0.55356	2.588000	0.87417	0.579000	0.79373	GCT		TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1	69	228	0	58	0	9.415385e-01	0	18	0	58	2		0	0	0	0	0	2	1	1	68	220	0	57	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PC	5091	broad.mit.edu	37	11	66619997	66619997	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66619997T>C	ENST00000393958.2	-	14	1831	c.1738A>G	c.(1738-1740)Act>Gct	p.T580A	PC_ENST00000393960.1_Missense_Mutation_p.T580A|PC_ENST00000529047.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.T580A|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase			32		Melanoma(852;0.0525)		Biotin(DB00121)|Pyruvic acid(DB00119)	CGCACACGAGTGGCCAGCAGT	0.617000																								0							SO:0001583	missense			ENST00000393958.2	1	1	hg19	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826191	0.71143	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98280	-4.84;-4.84;-4.84	5.53	5.53	0.82687	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.103647	0.64402	D	0.000003	D	0.99327	0.9764	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98662	1.0684	10	0.87932	D	0	-19.6207	13.6436	0.62267	0.0:0.0:0.0:1.0	.	580	P11498	PYC_HUMAN	A	580	ENSP00000377527:T580A;ENSP00000377530:T580A;ENSP00000377532:T580A	ENSP00000377527:T580A	T	-	1	0	PC	66376573	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.664000	0.61540	2.107000	0.64212	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	1	0	1	99	379	0	96	1	9.935479e-01	2	30	0	96	2		0	0	0	0	0	2	1	1	99	376	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS1	8642	broad.mit.edu	37	11	6662109	6662109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6662109G>T	ENST00000299441.3	-	2	1147	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			TTGATGTCCAGCAGTGTCACG	0.607000																								0							SO:0001583	missense			ENST00000299441.3	1	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479284	0.44044	.	.	ENSG00000166341	ENST00000299441	T	0.43688	0.94	4.71	3.73	0.42828	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.218597	0.23340	N	0.049245	T	0.67287	0.2877	M	0.87381	2.88	0.28461	N	0.915875	D	0.76494	0.999	D	0.87578	0.998	T	0.63559	-0.6610	10	0.45353	T	0.12	.	14.5287	0.67909	0.0:0.1468:0.8532:0.0	.	246	Q96JQ0	PCD16_HUMAN	M	246	ENSP00000299441:L246M	ENSP00000299441:L246M	L	-	1	2	DCHS1	6618685	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.325000	0.52030	2.312000	0.78011	0.544000	0.68410	CTG		TCGA-IB-7651-01A-11D-2154-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	0	40	577	0	97	0	1.629136e-01	0	11	0	97	2		0	0	0	0	0	2	1	1	40	570	0	97	2								-8.536813	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.770000	0.550000	1.000000	1.000000	0.783113	0.770000	0	6.500000e-01	9.100000e-01
SYT12	91683	broad.mit.edu	37	11	66816068	66816068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66816068G>A	ENST00000393946.2	+	11	2268	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SYT12_ENST00000527043.1_Missense_Mutation_p.R369H|SYT12_ENST00000525457.1_Missense_Mutation_p.R369H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	p.R369H(1)		20					CTGTCTCTCCGCGTGACGGTG	0.597000													Ovarian(65;2862 3307)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000393946.2	1	1	hg19	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681759	0.88542	0.0	1.16E-4	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.68624	-0.34;-0.34;-0.34	4.59	4.59	0.56863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66056	-0.6018	10	0.14656	T	0.56	.	15.2877	0.73843	0.0:0.0:1.0:0.0	.	369	Q8IV01	SYT12_HUMAN	H	369	ENSP00000377520:R369H;ENSP00000431400:R369H;ENSP00000435316:R369H	ENSP00000377520:R369H	R	+	2	0	SYT12	66572644	1.000000	0.71417	0.953000	0.39169	0.974000	0.67602	9.783000	0.99037	2.270000	0.75569	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	1	0	1	64	292	0	52	1	9.096035e-01	2	19	0	52	2		0	0	0	0	0	2	1	1	64	285	0	52	2								-20.000000	1	1	121410	1	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOD	29984	broad.mit.edu	37	11	66834227	66834227	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66834227G>A	ENST00000308831.2	+	3	324	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80H	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D			3					GACTATGACCGCCTGCGGCCC	0.592000																								0							SO:0001583	missense			ENST00000308831.2	1	1	hg19	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755124	0.49362	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.77750	-1.12;-1.12	4.9	2.98	0.34508	Small GTP-binding protein domain (1);	0.000000	0.48767	D	0.000166	T	0.71978	0.3404	M	0.79614	2.46	0.80722	D	1	B	0.33748	0.423	B	0.24006	0.05	T	0.74182	-0.3748	10	0.87932	D	0	-19.3198	7.7208	0.28731	0.1975:0.0:0.8025:0.0	.	80	O00212	RHOD_HUMAN	H	80	ENSP00000308576:R80H;ENSP00000431167:R80H	ENSP00000308576:R80H	R	+	2	0	RHOD	66590803	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	6.808000	0.75206	1.301000	0.44836	-0.136000	0.14681	CGC		TCGA-IB-7651-01A-11D-2154-08	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	1	0	1	120	553	0	141	1	9.999747e-01	6	65	0	141	2		0	0	0	0	0	2	1	1	118	542	0	141	2								-20.000000	1	1	121412	2	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM2A	22992	broad.mit.edu	37	11	66975059	66975059	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66975059A>G	ENST00000529006.2	+	6	832	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A			36					TGGACACGCTACTATGAGACC	0.517000																								0							SO:0001583	missense			ENST00000529006.2	0	1	hg19	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511494	0.85389	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.73681	-0.77;-0.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91219	0.5005	10	0.87932	D	0	-12.3265	14.5521	0.68073	1.0:0.0:0.0:0.0	.	129	Q9Y2K7	KDM2A_HUMAN	C	129	ENSP00000381640:Y129C;ENSP00000432786:Y129C	ENSP00000381640:Y129C	Y	+	2	0	KDM2A	66731635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.026000	0.59711	0.482000	0.46254	TAC		TCGA-IB-7651-01A-11D-2154-08	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	1	0	1	15	190	0	25	1	9.931903e-01	11	96	0	25	2		0	0	0	0	0	2	1	9.998778e-01	15	187	0	25	2								-19.717050	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.880000	0.510000	1.000000	1.000000	0.853800	0.880000	1	6.800000e-01	1
KDM2A	22992	broad.mit.edu	37	11	67012741	67012741	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67012741T>C	ENST00000529006.2	+	14	2091	c.1645T>C	c.(1645-1647)Tta>Cta	p.L549L	KDM2A_ENST00000308783.5_Silent_p.L7L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000398645.2_Silent_p.L549L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A			36					AGCTCCACGGTTAACACCTGT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000529006.2	1	1	hg19	CCDS44657.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	1	0	0	98	673	0	164	1	9.999987e-01	13	117	0	164	2		0	0	0	0	0	2	1	1	96	658	0	162	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KDM2A	22992	broad.mit.edu	37	11	67018039	67018039	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67018039G>A	ENST00000529006.2	+	17	2984	c.2538G>A	c.(2536-2538)caG>caA	p.Q846Q	KDM2A_ENST00000308783.5_Silent_p.Q304Q|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A			36					GAACCCCCCAGCGTGGggatg	0.652000																								0							SO:0001819	synonymous_variant			ENST00000529006.2	1	1	hg19	CCDS44657.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	1	0	1	35	156	0	26	1	9.650137e-01	6	21	0	26	2		0	0	0	0	0	2	1	1	35	149	0	23	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ADRBK1	156	broad.mit.edu	37	11	67049022	67049022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049022G>A	ENST00000308595.5	+	9	1030	c.740G>A	c.(739-741)aGc>aAc	p.S247N	ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1			22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	Adenosine triphosphate(DB00171)	TCGCTCGTCAGCACTGGGGTG	0.667000																								0							SO:0001583	missense			ENST00000308595.5	1	1	hg19	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	7.651	0.682851	0.14907	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.64618	-0.11;-0.11	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	N	0.20530	0.585	0.58432	D	0.999996	B;B	0.22604	0.072;0.023	B;B	0.28139	0.086;0.032	T	0.43861	-0.9365	10	0.02654	T	1	-15.598	18.674	0.91523	0.0:0.0:1.0:0.0	.	247;247	P25098;E9PRV7	ARBK1_HUMAN;.	N	247	ENSP00000312262:S247N;ENSP00000434126:S247N	ENSP00000312262:S247N	S	+	2	0	ADRBK1	66805598	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	9.008000	0.93601	2.493000	0.84123	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	0	13	305	0	60	1	9.994579e-01	6	302	0	60	2		0	0	0	0	0	2	1	9.994912e-01	12	299	0	60	2								-14.420720	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.490000	0.270000	1.000000	0.470000	0.527747	0.490000	0	3.700000e-01	6.600000e-01
ADRBK1	156	broad.mit.edu	37	11	67049920	67049920	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049920A>G	ENST00000308595.5	+	13	1357	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1			22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	Adenosine triphosphate(DB00171)	ACCCACGGGTACATGGCTCCG	0.662000																								0							SO:0001583	missense			ENST00000308595.5	1	1	hg19	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398443	0.62177	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.59638	0.25;0.25	5.57	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000040	T	0.80778	0.4688	M	0.93594	3.435	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85634	0.1272	10	0.87932	D	0	-2.2284	12.7695	0.57412	0.8634:0.1366:0.0:0.0	.	356;356	P25098;E9PRV7	ARBK1_HUMAN;.	C	356	ENSP00000312262:Y356C;ENSP00000434126:Y356C	ENSP00000312262:Y356C	Y	+	2	0	ADRBK1	66806496	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.939000	0.70179	2.117000	0.64856	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	1	75	394	0	100	1	1	52	193	0	100	2		0	0	0	0	0	2	1	1	73	389	0	99	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADRBK1	156	broad.mit.edu	37	11	67049925	67049925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049925G>A	ENST00000308595.5	+	13	1362	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1			22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	Adenosine triphosphate(DB00171)	CGGGTACATGGCTCCGGAGGT	0.667000																								0							SO:0001583	missense			ENST00000308595.5	1	1	hg19	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537423	0.85917	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.53423	0.62;0.62	5.7	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.80391	0.4614	H	0.97918	4.105	0.58432	D	0.999994	D;D	0.89917	0.997;1.0	D;D	0.77004	0.96;0.989	D	0.87699	0.2559	10	0.87932	D	0	-2.0703	16.7385	0.85453	0.0:0.1288:0.8712:0.0	.	358;358	P25098;E9PRV7	ARBK1_HUMAN;.	T	358	ENSP00000312262:A358T;ENSP00000434126:A358T	ENSP00000312262:A358T	A	+	1	0	ADRBK1	66806501	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.562000	0.82300	2.688000	0.91661	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	1	78	404	0	103	1	1	50	215	0	103	2		0	0	0	0	0	2	1	1	76	400	0	101	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADRBK1	156	broad.mit.edu	37	11	67050268	67050268	+	Silent	SNP	C	C	T	rs150236476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67050268C>T	ENST00000308595.5	+	14	1496	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1			22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)	Adenosine triphosphate(DB00171)	AGCATGAGATCGACCGCATGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000308595.5	1	1	hg19	CCDS8156.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	1	0	1	26	113	0	24	1	1	81	245	0	24	2		0	0	0	0	0	2	1	1	25	111	0	24	2								-20.000000	1	1	121312	11	38	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
ANKRD13D	338692	broad.mit.edu	37	11	67066586	67066586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67066586C>T	ENST00000447274.2	+	7	1703	c.528C>T	c.(526-528)taC>taT	p.Y176Y	ANKRD13D_ENST00000514166.1_Silent_p.Y176Y|ANKRD13D_ENST00000308440.6_Silent_p.Y176Y|ANKRD13D_ENST00000511455.2_Silent_p.Y263Y|ANKRD13D_ENST00000515828.1_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D			9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		TTAGCGGCTACGAGGCCAAGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000447274.2	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	1	0	1	88	415	0	103	0	9.999906e-01	1	79	0	103	2		0	0	0	0	0	2	1	1	87	401	0	103	2								-1.929451	0	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD9A	5883	broad.mit.edu	37	11	67163803	67163803	+	Silent	SNP	C	C	T	rs141857815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67163803C>T	ENST00000307980.2	+	9	897	c.804C>T	c.(802-804)acC>acT	p.T268T	RNU6-1238P_ENST00000517215.1_RNA|PPP1CA_ENST00000532446.1_5'Flank|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)			8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		TCTCAGACACCGACTCGCACT	0.642000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000307980.2	1	1	hg19	CCDS8159.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	1	0	1	144	667	0	190	1	9.992946e-01	16	35	0	190	2		0	0	0	0	0	2	1	1	144	650	0	190	2								-2.832203	1	1	121412	3	38	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1CA	5499	broad.mit.edu	37	11	67166104	67166104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67166104C>T	ENST00000376745.4	-	7	1043	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme			7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		TTCTTGTCGGCGGGCTTGAGG	0.587000																								0							SO:0001583	missense			ENST00000376745.4	1	1	hg19	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875607	0.72180	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239	T;T;T	0.05513	3.43;3.43;3.43	4.76	4.76	0.60689	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000015	T	0.08403	0.0209	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B;B	0.22003	0.063;0.063;0.004;0.022;0.01;0.003	B;B;B;B;B;B	0.10450	0.005;0.005;0.001;0.003;0.001;0.002	T	0.11251	-1.0595	10	0.66056	D	0.02	-15.3637	16.6987	0.85343	0.0:1.0:0.0:0.0	.	396;396;299;255;310;308	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	T	310;396;299;255	ENSP00000326031:A310T;ENSP00000365936:A299T;ENSP00000350974:A255T	ENSP00000326031:A310T	A	-	1	0	PPP1CA	66922680	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.224000	0.65288	2.474000	0.83562	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	1	0	1	47	214	0	44	1	1	264	691	0	44	2		0	0	0	0	0	2	1	1	46	211	0	43	2								-20.000000	1	1	121396	1	28	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARNS1	57571	broad.mit.edu	37	11	67186961	67186961	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67186961G>T	ENST00000307823.3	+	5	939	c.487G>T	c.(487-489)Gct>Tct	p.A163S	CARNS1_ENST00000445895.2_Missense_Mutation_p.A286S|CARNS1_ENST00000423745.2_Missense_Mutation_p.A163S|CARNS1_ENST00000531040.1_Missense_Mutation_p.A286S	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1			11					GCTGCAGGTAGCTGTGAAGCT	0.672000																								0							SO:0001583	missense			ENST00000307823.3	0	1	hg19	CCDS44658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231727|4.231727	0.79688|0.79688	.|.	.|.	ENSG00000172508|ENSG00000172531	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895|ENST00000451458;ENST00000546202;ENST00000542876	T;T;T;T|T;T	0.38240|0.51817	1.15;1.15;1.15;1.16|0.87;0.69	5.29|5.29	4.37|4.37	0.52481|0.52481	.|.	.|.	.|.	.|.	.|.	T|T	0.34106|0.34106	0.0886|0.0886	N|N	0.24115|0.24115	0.695|0.695	0.26746|0.26746	N|N	0.970297|0.970297	D;P;D|B	0.67145|0.19583	0.996;0.948;0.996|0.037	P;P;P|B	0.60609|0.12156	0.877;0.588;0.877|0.007	T|T	0.20075|0.20075	-1.0286|-1.0286	9|9	0.59425|0.40728	D|T	0.04|0.16	.|.	11.0196|11.0196	0.47709|0.47709	0.0887:0.0:0.9113:0.0|0.0887:0.0:0.9113:0.0	.|.	286;163;302|88	F5H427;A5YM72;A5YM72-3|E9PDP1	.;CRNS1_HUMAN;.|.	S|R	286;163;286;163;286|88	ENSP00000431670:A286S;ENSP00000308268:A163S;ENSP00000401519:A163S;ENSP00000389009:A286S|ENSP00000439568:S88R;ENSP00000438409:S88R	ENSP00000308268:A163S|ENSP00000405603:S88R	A|S	+|-	1|3	0|2	CARNS1|PPP1CA	66943537|66943537	0.765000|0.765000	0.28485|0.28485	0.894000|0.894000	0.35097|0.35097	0.962000|0.962000	0.63368|0.63368	2.944000|2.944000	0.49034|0.49034	1.235000|1.235000	0.43724|0.43724	0.462000|0.462000	0.41574|0.41574	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	0	0	0	4	101	0	12	0	0	0	1	0	12	2		0	0	0	0	0	2	1	8.693851e-01	4	92	0	12	2								-7.507545	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.500000	0.170000	1.000000	1.000000	0.540385	0.500000	0	3.000000e-01	7.900000e-01
RPS6KB2	6199	broad.mit.edu	37	11	67196455	67196455	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67196455C>T	ENST00000312629.5	+	2	126	c.81C>T	c.(79-81)gaC>gaT	p.D27D	RPS6KB2_ENST00000539188.1_Silent_p.D27D|AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2			25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		TCTCACAGGACGCATGTCCCC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000312629.5	1	1	hg19	CCDS41677.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	1	0	1	53	294	0	64	1	9.999145e-01	28	51	0	64	2		0	0	0	0	0	2	1	1	51	288	0	62	2								-20.000000	1	1	120974	1	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RPS6KB2	6199	broad.mit.edu	37	11	67200475	67200475	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67200475C>T	ENST00000312629.5	+	8	714	c.669C>T	c.(667-669)ggC>ggT	p.G223G	RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2			25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		TCCATGAGGGCGCCGTCACTC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000312629.5	1	1	hg19	CCDS41677.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	1	0	1	33	204	0	42	1	1	70	163	0	42	2		0	0	0	0	0	2	1	1	32	203	0	41	2								-3.322715	1	1	120996	22	44	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999854	0.990000	1	9.900000e-01	1
CORO1B	57175	broad.mit.edu	37	11	67205955	67205955	+	Missense_Mutation	SNP	C	C	A	rs150750630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67205955C>A	ENST00000341356.5	-	11	1472	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CORO1B_ENST00000393893.1_Missense_Mutation_p.E454D|PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B			13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		GCATCACCTCCTCCAGCTTCC	0.677000																								0							SO:0001583	missense			ENST00000341356.5	1	1	hg19	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272346	0.23221	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.61980	0.06;0.06	4.97	-3.5	0.04710	.	0.407209	0.18103	N	0.151625	T	0.32734	0.0839	N	0.17082	0.46	0.27748	N	0.944249	B	0.02656	0.0	B	0.10450	0.005	T	0.30534	-0.9975	10	0.08179	T	0.78	-16.5489	5.61	0.17400	0.0:0.213:0.279:0.508	.	454	Q9BR76	COR1B_HUMAN	D	454	ENSP00000377471:E454D;ENSP00000340211:E454D	ENSP00000340211:E454D	E	-	3	2	CORO1B	66962531	0.022000	0.18835	0.979000	0.43373	0.767000	0.43475	-0.983000	0.03759	-0.505000	0.06568	-0.232000	0.12228	GAG		TCGA-IB-7651-01A-11D-2154-08	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	1	0	1	54	277	0	52	1	1	62	187	0	52	2		0	0	0	0	0	2	1	1	52	270	0	52	2								-3.340444	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CORO1B	57175	broad.mit.edu	37	11	67206391	67206391	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67206391G>A	ENST00000341356.5	-	10	1205	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	CORO1B_ENST00000393893.1_Silent_p.P365P|PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B			13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		CGGCTGTGTCGGGGTACAGAT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000341356.5	1	1	hg19	CCDS8164.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	1	0	1	20	92	0	19	1	1	144	384	0	19	2		0	0	0	0	0	2	1	9.999974e-01	20	91	0	17	2								-20.000000	1	1	120684	5	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999895	0.990000	1	9.900000e-01	1
GPR152	390212	broad.mit.edu	37	11	67219490	67219490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219490C>T	ENST00000312457.2	-	1	710	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152			16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		GCCACACGGGCGAAGCCCCGG	0.667000													Pancreas(102;800 1581 2723 7382 33622)											0							SO:0001583	missense			ENST00000312457.2	1	1	hg19	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215546	0.22373	.	.	ENSG00000175514	ENST00000312457	T	0.73469	-0.75	4.58	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.190474	0.25648	N	0.029228	T	0.58509	0.2127	N	0.14661	0.345	0.30379	N	0.782109	D	0.55172	0.97	P	0.46208	0.507	T	0.58595	-0.7609	10	0.32370	T	0.25	.	9.2278	0.37418	0.3228:0.6772:0.0:0.0	.	236	Q8TDT2	GP152_HUMAN	T	236	ENSP00000310255:A236T	ENSP00000310255:A236T	A	-	1	0	GPR152	66976066	0.000000	0.05858	0.870000	0.34147	0.133000	0.20885	0.582000	0.23834	2.350000	0.79820	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1	1	0	0	25	266	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	9.999998e-01	25	259	0	46	2								-3.318794	1	1	121262	4	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.680000	1.000000	1.000000	0.941100	0.990000	1	8.300000e-01	1
GPR152	390212	broad.mit.edu	37	11	67219976	67219976	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219976C>T	ENST00000312457.2	-	1	224	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152			16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		TCAGAGAGGGCCAGGCTGAGC	0.672000													Pancreas(102;800 1581 2723 7382 33622)											0							SO:0001583	missense			ENST00000312457.2	0	1	hg19	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358546	0.95854	.	.	ENSG00000175514	ENST00000312457	T	0.56103	0.48	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	N	0.001330	T	0.67674	0.2918	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.70490	-0.4857	10	0.87932	D	0	.	15.6211	0.76808	0.0:1.0:0.0:0.0	.	74	Q8TDT2	GP152_HUMAN	T	74	ENSP00000310255:A74T	ENSP00000310255:A74T	A	-	1	0	GPR152	66976552	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.199000	0.58426	2.542000	0.85734	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1	1	0	0	6	94	0	18	0	5.330287e-03	1	1	0	18	2		0	0	0	0	0	2	1	9.643131e-01	6	92	0	18	2								-10.334960	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.750000	0.310000	1.000000	1.000000	0.744160	0.750000	0	4.900000e-01	1
AIP	9049	broad.mit.edu	37	11	67257556	67257556	+	Silent	SNP	C	C	T	rs2276020	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67257556C>T	ENST00000279146.3	+	4	634	c.516C>T	c.(514-516)gaC>gaT	p.D172D		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein			7					CCATGACAGACGAAGAGAAGG	0.622000									Familial Isolated Pituitary Adenoma															0							SO:0001819	synonymous_variant	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	ENST00000279146.3	1	0	hg19	CCDS8168.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1	0	0	1	19	84	0	19	1	1	81	330	0	19	2		0	0	0	0	0	2	1	9.999949e-01	19	83	0	19	2								-1.780182	0	1	121126	4038	63	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999894	0.990000	1	9.900000e-01	1
PITPNM1	9600	broad.mit.edu	37	11	67260478	67260478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67260478G>A	ENST00000534749.1	-	22	3586	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	PITPNM1_ENST00000356404.3_Missense_Mutation_p.A1133V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1			18					CCCCAGCGCCGCGTATACAGC	0.642000													GBM(28;144 709 4607 5525)											0							SO:0001583	missense			ENST00000534749.1	1	1	hg19	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567459	0.28003	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.77750	-1.12;-1.12;-1.12	4.71	2.63	0.31362	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.443249	0.19271	N	0.118403	T	0.67477	0.2897	L	0.50333	1.59	0.18873	N	0.999988	P;P	0.48503	0.911;0.91	B;B	0.35413	0.169;0.202	T	0.63323	-0.6663	10	0.66056	D	0.02	-16.6914	11.7009	0.51571	0.0:0.4955:0.5045:0.0	.	1132;1133	O00562-2;O00562	.;PITM1_HUMAN	V	1133;1132;1133	ENSP00000437286:A1133V;ENSP00000398787:A1132V;ENSP00000348772:A1133V	ENSP00000348772:A1133V	A	-	2	0	PITPNM1	67017054	0.279000	0.24239	0.027000	0.17364	0.105000	0.19272	0.620000	0.24403	1.143000	0.42306	-0.218000	0.12543	GCG		TCGA-IB-7651-01A-11D-2154-08	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	1	0	1	146	887	0	195	1	1	66	150	0	195	2		0	0	0	0	0	2	1	1	145	875	0	192	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITPNM1	9600	broad.mit.edu	37	11	67269540	67269540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67269540G>A	ENST00000534749.1	-	4	621	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R145W|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R145W			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1			18					ACTGCATCCCGCACGATGTCG	0.622000													GBM(28;144 709 4607 5525)											0							SO:0001583	missense			ENST00000534749.1	1	1	hg19	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818472	0.71028	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.21	3.28	0.37604	START-like domain (1);	0.296317	0.23682	N	0.045614	T	0.58352	0.2116	L	0.47190	1.495	0.38624	D	0.951207	D;D	0.89917	0.999;1.0	D;D	0.73708	0.949;0.981	T	0.63152	-0.6701	10	0.87932	D	0	-30.3704	10.5497	0.45081	0.0:0.0:0.6498:0.3501	.	145;145	O00562-2;O00562	.;PITM1_HUMAN	W	145	ENSP00000437286:R145W;ENSP00000398787:R145W;ENSP00000348772:R145W;ENSP00000434046:R145W;ENSP00000432977:R145W;ENSP00000434904:R145W	ENSP00000348772:R145W	R	-	1	2	PITPNM1	67026116	0.722000	0.28017	1.000000	0.80357	0.992000	0.81027	1.200000	0.32247	1.097000	0.41459	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	1	0	0	11	181	0	45	1	9.996786e-01	15	233	0	45	2		0	0	0	0	0	2	1	9.982418e-01	11	176	0	45	2								-3.325052	1	1	121348	1	26	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.700000	0.370000	1.000000	1.000000	0.714257	0.700000	0	5.100000e-01	9.400000e-01
GSTP1	2950	broad.mit.edu	37	11	67354023	67354023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67354023C>T	ENST00000398606.3	+	7	857	c.608C>T	c.(607-609)cCc>cTc	p.P203L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1			9				Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GTGAACCTCCCCATCAATGGC	0.582000																								0							SO:0001583	missense			ENST00000398606.3	1	1	hg19	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646131	0.47258	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.09073	3.02;3.02	5.3	4.39	0.52855	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.148823	0.44902	D	0.000416	T	0.24928	0.0605	M	0.75264	2.295	0.48135	D	0.999596	D	0.71674	0.998	D	0.66847	0.947	T	0.36841	-0.9731	9	0.87932	D	0	-47.9802	9.8953	0.41316	0.0:0.9049:0.0:0.0951	.	203	P09211	GSTP1_HUMAN	L	203;167	ENSP00000381607:P203L;ENSP00000381604:P167L	ENSP00000381604:P167L	P	+	2	0	GSTP1	67110599	1.000000	0.71417	0.954000	0.39281	0.087000	0.18053	3.640000	0.54350	1.228000	0.43614	-0.251000	0.11542	CCC		TCGA-IB-7651-01A-11D-2154-08	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	1	0	1	41	158	0	39	1	1	1271	2756	0	39	2		0	0	0	0	0	2	1	1	39	149	0	38	2								-3.251536	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFV1	4723	broad.mit.edu	37	11	67376922	67376922	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67376922G>T	ENST00000322776.6	+	4	479		c.e4-1		NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site|C11orf72_ENST00000333139.3_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000532303.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa			16					GGCCCCTGCAGGCCCAAGTAT	0.622000																								0							SO:0001630	splice_region_variant			ENST00000322776.6	1	1	hg19	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008643	0.54361	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.095	0.65016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDUFV1	67133498	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.494000	0.97962	2.174000	0.68829	0.555000	0.69702	.		TCGA-IB-7651-01A-11D-2154-08	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	1	0	1	92	461	0	82	1	1.985534e-01	2	3	0	82	2		0	0	0	0	0	2	1	1	90	448	0	82	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUDT8	254552	broad.mit.edu	37	11	67397232	67397232	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67397232G>T	ENST00000376693.2	-	1	160	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	NUDT8_ENST00000301490.4_Missense_Mutation_p.L51M|RP11-655M14.13_ENST00000533311.1_lincRNA	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8			4					CTGGACCGCAGCGTGTACAGC	0.761000																								0							SO:0001583	missense			ENST00000376693.2	1	1	hg19	CCDS58151.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132531	0.56828	.	.	ENSG00000167799	ENST00000301490;ENST00000376693	T;T	0.07908	3.15;3.15	2.94	2.94	0.34122	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.108661	0.38837	U	0.001554	T	0.21761	0.0524	M	0.63208	1.945	0.39747	D	0.971835	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.01256	-1.1404	10	0.56958	D	0.05	-10.0279	9.5342	0.39213	0.0:0.0:1.0:0.0	.	51;51	Q8WV74;Q8WV74-2	NUDT8_HUMAN;.	M	51	ENSP00000301490:L51M;ENSP00000365883:L51M	ENSP00000301490:L51M	L	-	1	2	NUDT8	67153808	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	3.235000	0.51328	1.679000	0.50963	0.306000	0.20318	CTG		TCGA-IB-7651-01A-11D-2154-08	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394036.1	1	0	0	20	83	0	17	1	9.908073e-01	13	21	0	17	2		0	0	0	0	0	2	1	9.999973e-01	20	81	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
TBX10	347853	broad.mit.edu	37	11	67401799	67401799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67401799G>A	ENST00000335385.3	-	4	497	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10			7					TGCCTTGCCCGCCACCAGCCA	0.647000																								0							SO:0001583	missense			ENST00000335385.3	1	1	hg19	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347886	0.82022	.	.	ENSG00000167800	ENST00000335385	D	0.89681	-2.55	3.56	3.56	0.40772	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000010	D	0.94679	0.8284	M	0.88640	2.97	0.53688	D	0.999979	D	0.89917	1.0	D	0.72625	0.978	D	0.95633	0.8691	10	0.87932	D	0	.	14.0846	0.64947	0.0:0.0:1.0:0.0	.	137	O75333	TBX10_HUMAN	V	137	ENSP00000335191:A137V	ENSP00000335191:A137V	A	-	2	0	TBX10	67158375	1.000000	0.71417	0.990000	0.47175	0.927000	0.56198	5.323000	0.65858	1.839000	0.53478	0.305000	0.20034	GCG		TCGA-IB-7651-01A-11D-2154-08	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	1	0	1	70	336	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	69	326	0	62	2								-3.182042	1	1	121298	1	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH3B2	222	broad.mit.edu	37	11	67433656	67433656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67433656G>T	ENST00000349015.3	-	6	694	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2			18					GGTCCGCCCAGCACCACGGCA	0.647000																								0							SO:0001583	missense			ENST00000349015.3	1	1	hg19	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541846	0.45280	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	3.19	2.24	0.28232	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.980889	0.08310	N	0.965484	T	0.80226	0.4584	L	0.53561	1.675	0.23107	N	0.998288	P	0.48834	0.916	P	0.57620	0.824	T	0.65475	-0.6159	10	0.54805	T	0.06	.	3.3714	0.07222	0.226:0.0:0.5203:0.2536	.	86	P48448	AL3B2_HUMAN	M	86	ENSP00000431595:L86M;ENSP00000255084:L86M;ENSP00000433718:L86M;ENSP00000433466:L86M	ENSP00000255084:L86M	L	-	1	2	ALDH3B2	67190232	0.001000	0.12720	0.911000	0.35937	0.899000	0.52679	0.590000	0.23954	0.872000	0.35775	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	1	0	1	87	448	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	86	432	0	113	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH3B1	221	broad.mit.edu	37	11	67789274	67789274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67789274C>T	ENST00000539229.1	+	8	996	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.R294W|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.R258W	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1								CCAGCGGCTGCGGGCATTGCT	0.647000																								0							SO:0001583	missense			ENST00000539229.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	91	422	0	114	1	1	94	166	0	114	2		0	0	0	0	0	2	1	1	87	412	0	122	2								-3.367045	1	1	121408	6	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH3B1	221	broad.mit.edu	37	11	67790162	67790162	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67790162A>C	ENST00000539229.1	+	10	1159	c.1043A>C	c.(1042-1044)gAg>gCg	p.E348A	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E348A|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E312A	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1								AGCTTGGACGAGGCCATCGAG	0.657000																								0							SO:0001583	missense			ENST00000539229.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	85	370	0	73	1	1	75	169	0	73	2		0	0	0	0	0	2	1	1	85	358	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCIRG1	10312	broad.mit.edu	37	11	67816688	67816688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67816688G>T	ENST00000265686.3	+	15	1922	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3			16					TCGGCCCCCAGCATCCTCATC	0.642000																								0							SO:0001583	missense			ENST00000265686.3	1	1	hg19	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797545	0.90538	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86164	-2.08;-2.08	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96547	0.9405	10	0.87932	D	0	-40.002	16.0297	0.80570	0.0:0.0:1.0:0.0	.	605	Q13488	VPP3_HUMAN	I	605;389	ENSP00000265686:S605I;ENSP00000434407:S389I	ENSP00000265686:S605I	S	+	2	0	TCIRG1	67573264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.553000	0.98118	2.350000	0.79820	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	1	0	1	132	579	0	117	1	1	29	160	0	117	2		0	0	0	0	0	2	1	1	132	569	0	115	2								-3.403469	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2AG2	338755	broad.mit.edu	37	11	6790159	6790159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6790159G>A	ENST00000338569.2	-	1	127	c.30C>T	c.(28-30)agC>agT	p.S10S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	p.S10S(1)		28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)			AGATGAAGCCGCTTCCCAAGG	0.443000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000338569.2	1	1	hg19	CCDS31413.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	1	0	0	15	271	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	9.998591e-01	14	265	0	50	2								-3.314260	1	1	121410	3	33	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.630000	0.370000	1.000000	0.610000	0.657392	0.630000	0	4.800000e-01	8.300000e-01
SUV420H1	51111	broad.mit.edu	37	11	67925463	67925463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925463C>A	ENST00000304363.4	-	11	2703	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)			46					TTTTCCTCATCTCGTTTTAGC	0.413000																								0							SO:0001583	missense			ENST00000304363.4	1	1	hg19	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742774	0.69418	.	.	ENSG00000110066	ENST00000304363	T	0.51574	0.7	5.39	5.39	0.77823	.	0.098404	0.64402	D	0.000001	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.60575	0.988	P	0.57371	0.819	T	0.58188	-0.7680	10	0.87932	D	0	-27.8809	19.1401	0.93444	0.0:1.0:0.0:0.0	.	784	Q4FZB7	SV421_HUMAN	Y	784	ENSP00000305899:D784Y	ENSP00000305899:D784Y	D	-	1	0	SUV420H1	67682039	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.375000	0.79646	2.536000	0.85505	0.491000	0.48974	GAT		TCGA-IB-7651-01A-11D-2154-08	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	1	0	0	41	1018	0	208	0	7.530666e-01	1	68	0	208	2		0	0	0	0	0	2	1	1	39	990	0	207	2								-4.122846	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.460000	0.330000	1.000000	0.450000	0.485881	0.460000	0	3.900000e-01	5.500000e-01
SUV420H1	51111	broad.mit.edu	37	11	67925796	67925796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925796C>T	ENST00000304363.4	-	11	2370	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)			46					GAACAACCGACGGGTGAAGGA	0.493000																								0							SO:0001583	missense			ENST00000304363.4	1	1	hg19	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150346	0.57151	.	.	ENSG00000110066	ENST00000304363	T	0.44881	0.91	5.04	4.13	0.48395	.	0.701645	0.13851	N	0.358378	T	0.29524	0.0736	N	0.19112	0.55	0.47476	D	0.999434	B	0.27700	0.186	B	0.17098	0.017	T	0.10154	-1.0642	10	0.59425	D	0.04	-2.9363	13.4694	0.61273	0.0:0.925:0.0:0.075	.	673	Q4FZB7	SV421_HUMAN	I	673	ENSP00000305899:V673I	ENSP00000305899:V673I	V	-	1	0	SUV420H1	67682372	0.001000	0.12720	0.012000	0.15200	0.467000	0.32768	0.865000	0.27940	1.362000	0.46000	-0.339000	0.08088	GTC		TCGA-IB-7651-01A-11D-2154-08	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	1	0	1	40	243	0	47	1	9.996296e-01	13	62	0	47	2		0	0	0	0	0	2	1	1	39	241	0	47	2								-20.000000	1	1	121412	14	42	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
SUV420H1	51111	broad.mit.edu	37	11	67939172	67939172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67939172G>A	ENST00000304363.4	-	7	1011	c.658C>T	c.(658-660)Cga>Tga	p.R220*	SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)			46					TTGTCATTTCGTTTCCTATTT	0.299000																								0							SO:0001587	stop_gained			ENST00000304363.4	0	1	hg19	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371350	0.95923	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	.	.	.	5.73	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8323	15.8848	0.79238	0.0:0.0:0.864:0.136	.	.	.	.	X	220;220;220;220;197;48	.	ENSP00000305899:R220X	R	-	1	2	SUV420H1	67695748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.737000	0.68606	2.854000	0.98071	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	1	0	1	36	237	0	55	1	9.999931e-01	2	120	0	55	2		0	0	0	0	0	2	1	1	35	233	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999765	0.990000	1	9.900000e-01	1
LRP5	4041	broad.mit.edu	37	11	68153814	68153814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68153814G>A	ENST00000294304.7	+	6	1152	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5			63					CTGGCCCGGCGGACGGACCTA	0.662000																								0							SO:0001583	missense			ENST00000294304.7	1	1	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338204	0.95758	.	.	ENSG00000162337	ENST00000294304	D	0.91464	-2.85	3.81	3.81	0.43845	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.45361	U	0.000362	D	0.94742	0.8303	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.94779	0.7952	10	0.48119	T	0.1	.	16.3309	0.83014	0.0:0.0:1.0:0.0	.	349	O75197	LRP5_HUMAN	Q	349	ENSP00000294304:R349Q	ENSP00000294304:R349Q	R	+	2	0	LRP5	67910390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	2.177000	0.69029	0.449000	0.29647	CGG		TCGA-IB-7651-01A-11D-2154-08	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	0	0	0	14	325	1	55	0	1.138620e-01	2	118	1	55	9		0	0	0	0	0	2	0	2.192315e-01	15	317	1	55	19								-3.156085	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.500000	0.280000	1.000000	0.480000	0.530892	0.500000	0	3.800000e-01	6.600000e-01
OR6A2	8590	broad.mit.edu	37	11	6816484	6816484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816484G>A	ENST00000332601.3	-	1	644	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2			29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)			CAGCCCAAGAGCCAGCAGCCA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000332601.3	1	1	hg19	CCDS7772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	1	0	0	17	273	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	9.999652e-01	17	269	0	53	2								-19.717010	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.700000	0.420000	1.000000	1.000000	0.722832	0.700000	0	5.500000e-01	9.000000e-01
OR6A2	8590	broad.mit.edu	37	11	6816737	6816737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816737G>A	ENST00000332601.3	-	1	391	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2			29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)			CTCCAGAAAGGACATATTAGC	0.438000																								0							SO:0001583	missense			ENST00000332601.3	1	1	hg19	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770423	0.69992	.	.	ENSG00000184933	ENST00000332601	T	0.12361	2.69	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.47710	0.1460	M	0.92604	3.325	0.39007	D	0.959472	D	0.89917	1.0	D	0.91635	0.999	T	0.61530	-0.7044	10	0.87932	D	0	.	16.0847	0.81038	0.0:0.0:1.0:0.0	.	68	O95222	OR6A2_HUMAN	F	68	ENSP00000330384:S68F	ENSP00000330384:S68F	S	-	2	0	OR6A2	6773313	0.937000	0.31787	1.000000	0.80357	0.981000	0.71138	4.006000	0.57083	2.741000	0.93983	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	1	0	1	107	423	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	104	413	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6A2	8590	broad.mit.edu	37	11	6816882	6816882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816882C>T	ENST00000332601.3	-	1	246	c.58G>A	c.(58-60)Gct>Act	p.A20T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2			29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)			GGCGCAGGAGCAGGGAAGCCC	0.498000																								0							SO:0001583	missense			ENST00000332601.3	1	1	hg19	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	3.006	-0.204918	0.06180	.	.	ENSG00000184933	ENST00000332601	T	0.00438	7.42	4.75	3.84	0.44239	.	0.277043	0.24766	N	0.035767	T	0.00178	0.0005	N	0.02334	-0.595	0.30921	N	0.728018	P	0.48764	0.915	P	0.45276	0.475	T	0.45804	-0.9236	10	0.05833	T	0.94	.	7.4668	0.27326	0.0:0.8079:0.0:0.1921	.	20	O95222	OR6A2_HUMAN	T	20	ENSP00000330384:A20T	ENSP00000330384:A20T	A	-	1	0	OR6A2	6773458	0.000000	0.05858	0.980000	0.43619	0.035000	0.12851	0.027000	0.13621	1.368000	0.46115	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	1	0	1	68	320	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	68	310	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP5	4041	broad.mit.edu	37	11	68171011	68171011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68171011T>C	ENST00000294304.7	+	8	1751	c.1645T>C	c.(1645-1647)Ttt>Ctt	p.F549L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5			63					CCCGCACATTTTTGGGTTCAC	0.597000																								0							SO:0001583	missense			ENST00000294304.7	1	1	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	32	5.155240	0.94686	.	.	ENSG00000162337	ENST00000294304	D	0.91124	-2.79	4.13	4.13	0.48395	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000110	D	0.94228	0.8147	M	0.85859	2.78	0.80722	D	1	P	0.36392	0.551	P	0.50754	0.649	D	0.95161	0.8281	10	0.87932	D	0	.	13.6309	0.62193	0.0:0.0:0.0:1.0	.	549	O75197	LRP5_HUMAN	L	549	ENSP00000294304:F549L	ENSP00000294304:F549L	F	+	1	0	LRP5	67927587	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.727000	0.84838	1.882000	0.54519	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1	62	327	0	65	1	1	46	119	0	65	2		0	0	0	0	0	2	1	1	60	323	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP5	4041	broad.mit.edu	37	11	68181324	68181324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68181324G>A	ENST00000294304.7	+	12	2777	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5			63					CTTCGTGATGGACATCCTGGT	0.607000																								0							SO:0001583	missense			ENST00000294304.7	1	1	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593856	0.96602	.	.	ENSG00000162337	ENST00000294304	D	0.91351	-2.83	5.02	5.02	0.67125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000115	D	0.96510	0.8861	M	0.92367	3.3	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.97234	0.9886	10	0.72032	D	0.01	.	18.5313	0.90993	0.0:0.0:1.0:0.0	.	891;891	Q9UES7;O75197	.;LRP5_HUMAN	N	891	ENSP00000294304:D891N	ENSP00000294304:D891N	D	+	1	0	LRP5	67937900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.601000	0.87937	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1	52	232	0	67	1	9.999838e-01	24	52	0	67	2		0	0	0	0	0	2	1	1	51	230	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP5	4041	broad.mit.edu	37	11	68191127	68191127	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68191127C>T	ENST00000294304.7	+	14	3304	c.3198C>T	c.(3196-3198)cgC>cgT	p.R1066R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5			63					GTGGGGACCGCGACAAGCCCA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000294304.7	1	1	hg19	CCDS8181.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1	98	392	0	69	1	1	45	125	0	69	2		0	0	0	0	0	2	1	1	97	389	0	69	2								-20.000000	1	1	121404	3	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP5	4041	broad.mit.edu	37	11	68206126	68206126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68206126G>A	ENST00000294304.7	+	20	4430	c.4324G>A	c.(4324-4326)Ggt>Agt	p.G1442S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5			63					AGCCCCGGGCGGTTCCCAGCA	0.642000																								0							SO:0001583	missense			ENST00000294304.7	1	1	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424492	0.01126	.	.	ENSG00000162337	ENST00000294304	D	0.92911	-3.13	4.53	1.35	0.21983	.	0.238461	0.27306	N	0.019977	T	0.69548	0.3123	N	0.01048	-1.04	0.23708	N	0.997051	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.63166	-0.6698	10	0.06757	T	0.87	.	5.4872	0.16757	0.5554:0.0:0.4446:0.0	.	1442;1442	Q9UES7;O75197	.;LRP5_HUMAN	S	1442	ENSP00000294304:G1442S	ENSP00000294304:G1442S	G	+	1	0	LRP5	67962702	0.249000	0.23941	0.042000	0.18584	0.104000	0.19210	1.543000	0.36147	0.538000	0.28769	0.585000	0.79938	GGT		TCGA-IB-7651-01A-11D-2154-08	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1	31	121	0	37	1	1	53	109	0	37	2		0	0	0	0	0	2	1	1	30	116	0	37	2								-20.000000	1	1	121400	1	32	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MTL5	9633	broad.mit.edu	37	11	68517673	68517673	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517673G>A	ENST00000255087.5	-	2	639	c.456C>T	c.(454-456)ggC>ggT	p.G152G	MTL5_ENST00000443940.2_Silent_p.G152G|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Silent_p.G152G	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)			15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		TCATGCGGACGCCCGGGTGGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000255087.5	1	1	hg19	CCDS8184.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	1	0	1	16	67	0	13	0	4.186047e-02	1	1	0	13	2		0	0	0	0	0	2	1	9.999559e-01	16	65	0	12	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999796	0.990000	1	9.900000e-01	1
MTL5	9633	broad.mit.edu	37	11	68517909	68517909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517909C>T	ENST00000255087.5	-	2	403	c.220G>A	c.(220-222)Gac>Aac	p.D74N	MTL5_ENST00000443940.2_Missense_Mutation_p.D74N|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Missense_Mutation_p.D74N	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)			15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		CCCTTGCAGTCGGCGCCCAGC	0.697000																								0							SO:0001583	missense			ENST00000255087.5	0	1	hg19	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	c	12.87	2.066480	0.36470	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.52983	1.3;0.64;1.23	4.25	4.25	0.50352	.	0.143613	0.31566	N	0.007438	T	0.52224	0.1721	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.70227	0.968;0.968;0.685	T	0.39502	-0.9611	10	0.29301	T	0.29	-22.316	12.0095	0.53278	0.0:1.0:0.0:0.0	.	74;57;74	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	N	74	ENSP00000255087:D74N;ENSP00000403086:D74N;ENSP00000440968:D74N	ENSP00000255087:D74N	D	-	1	0	MTL5	68274485	0.121000	0.22262	0.152000	0.22495	0.053000	0.15095	2.985000	0.49362	2.204000	0.70986	0.306000	0.20318	GAC		TCGA-IB-7651-01A-11D-2154-08	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	1	0	0	11	46	0	9	1	3.524822e-01	3	3	0	9	2		0	0	0	0	0	2	1	9.988950e-01	11	46	0	8	2								-19.964530	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998737	0.990000	1	9.900000e-01	1
MTL5	9633	broad.mit.edu	37	11	68518082	68518082	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68518082G>A	ENST00000255087.5	-	2	230	c.47C>T	c.(46-48)gCg>gTg	p.A16V	MTL5_ENST00000443940.2_Missense_Mutation_p.A16V|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Missense_Mutation_p.A16V	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)			15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		CGTCACCATCGCATCCTCGGG	0.711000																								0							SO:0001583	missense			ENST00000255087.5	0	1	hg19	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.639166	0.29157	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.45668	1.49;0.89;1.48	3.69	1.31	0.21738	.	0.174218	0.27219	N	0.020367	T	0.16300	0.0392	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.12502	-1.0545	10	0.45353	T	0.12	-9.2933	4.1092	0.10052	0.203:0.0:0.2211:0.5759	.	16;16	Q9Y4I5-3;Q9Y4I5	.;MTL5_HUMAN	V	16	ENSP00000255087:A16V;ENSP00000403086:A16V;ENSP00000440968:A16V	ENSP00000255087:A16V	A	-	2	0	MTL5	68274658	0.024000	0.19004	0.037000	0.18230	0.021000	0.10359	0.351000	0.20096	0.080000	0.16959	-0.701000	0.03672	GCG		TCGA-IB-7651-01A-11D-2154-08	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	0	0	0	4	88	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	8.893658e-01	4	87	0	10	2								-7.316887	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.560000	0.190000	1.000000	1.000000	0.599835	0.560000	0	3.400000e-01	8.900000e-01
CPT1A	1374	broad.mit.edu	37	11	68527694	68527694	+	Splice_Site	SNP	G	G	A	rs139057953		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68527694G>A	ENST00000265641.5	-	17	2295	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	CPT1A_ENST00000539743.1_Splice_Site_p.P714L|CPT1A_ENST00000540367.1_Splice_Site_p.P714L|CPT1A_ENST00000376618.2_Splice_Site_p.P714L|CPT1A_ENST00000537756.2_5'Flank	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)			42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)	Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CGCACTCACCGGTCCAAAGCC	0.622000																								0							SO:0001630	splice_region_variant			ENST00000265641.5	1	0	hg19	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186551	0.78789	2.27E-4	0.0	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.78	3.83	0.44106	.	0.111392	0.64402	D	0.000006	D	0.96911	0.8991	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.97974	1.0345	10	0.87932	D	0	.	15.0248	0.71659	0.0:0.143:0.857:0.0	.	714;714	P50416;P50416-2	CPT1A_HUMAN;.	L	714	ENSP00000439084:P714L;ENSP00000365803:P714L;ENSP00000265641:P714L;ENSP00000446108:P714L	ENSP00000265641:P714L	P	-	2	0	CPT1A	68284270	1.000000	0.71417	0.936000	0.37596	0.679000	0.39708	9.208000	0.95075	1.309000	0.44985	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	1	0	1	17	61	0	17	1	1	78	205	0	17	2		0	0	0	0	0	2	1	9.999820e-01	17	60	0	17	2								-20.000000	1	0	121390	1	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
MRPL21	219927	broad.mit.edu	37	11	68664142	68664142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68664142G>A	ENST00000362034.2	-	4	246	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21			8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		CCTTCTTCACGACCTCTGCAG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000362034.2	1	1	hg19	CCDS8186.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	1	0	1	100	495	0	126	1	1	91	240	0	126	2		0	0	0	0	0	2	1	1	97	485	0	123	2								-3.029159	1	1	121412	16	44	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10A5	144124	broad.mit.edu	37	11	6867249	6867249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6867249A>G	ENST00000299454.4	+	1	367	c.336A>G	c.(334-336)gaA>gaG	p.E112E	OR10A5_ENST00000379831.2_Silent_p.E116E			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5			21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)			GGGTAGCTGAATGCTTCCTCC	0.532000													Pancreas(44;21 1072 25662 28041 45559)											0							SO:0001819	synonymous_variant			ENST00000299454.4	1	1	hg19	CCDS7773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	1	0	1	152	619	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1	151	604	0	153	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGHMBP2	3508	broad.mit.edu	37	11	68703961	68703961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68703961G>A	ENST00000255078.3	+	13	2124	c.2013G>A	c.(2011-2013)acG>acA	p.T671T		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2			36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		GACCTGCTACGTCCACCAGGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000255078.3	1	1	hg19	CCDS8187.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	1	0	1	101	301	0	63	1	9.976625e-01	12	18	0	63	2		0	0	0	0	0	2	1	1	98	287	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGHMBP2	3508	broad.mit.edu	37	11	68707097	68707097	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68707097C>A	ENST00000255078.3	+	15	2991	c.2880C>A	c.(2878-2880)tcC>tcA	p.S960S	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2			36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		AGAACGGATCCCTGGACCCAG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000255078.3	1	1	hg19	CCDS8187.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	1	0	1	36	159	0	25	1	9.541246e-01	11	14	0	25	2		0	0	0	0	0	2	1	1	36	154	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MRGPRD	116512	broad.mit.edu	37	11	68747857	68747857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68747857G>A	ENST00000309106.3	-	1	598	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D			22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		GACAAAGAGGGTCAGGCTGGA	0.592000																								0							SO:0001583	missense			ENST00000309106.3	1	1	hg19	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	6.465	0.453938	0.12283	.	.	ENSG00000172938	ENST00000309106	T	0.36340	1.26	4.87	-4.03	0.04021	GPCR, rhodopsin-like superfamily (1);	0.859950	0.09799	N	0.754331	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.27951	0.195	B	0.28916	0.096	T	0.34054	-0.9844	10	0.14252	T	0.57	-7.9404	7.0439	0.25035	0.6781:0.0:0.1932:0.1287	.	200	Q8TDS7	MRGRD_HUMAN	I	200	ENSP00000310631:T200I	ENSP00000310631:T200I	T	-	2	0	MRGPRD	68504433	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.983000	0.01488	-0.471000	0.06891	0.460000	0.39030	ACC		TCGA-IB-7651-01A-11D-2154-08	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	1	0	1	29	146	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	29	138	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
DEAF1	10522	broad.mit.edu	37	11	688045	688045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:688045G>T	ENST00000382409.3	-	4	1014	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor			24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)			AGGGGTTGGAGGAGACTGAGG	0.572000																								0							SO:0001583	missense			ENST00000382409.3	1	1	hg19	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742636	0.89573	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.68624	-0.34	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	L	0.27053	0.805	0.44780	D	0.997786	D	0.71674	0.998	P	0.60173	0.87	T	0.74176	-0.3750	10	0.87932	D	0	-12.841	15.6697	0.77264	0.0:0.0:1.0:0.0	.	177	O75398	DEAF1_HUMAN	H	177;177;163;100	ENSP00000371846:P177H	ENSP00000341902:P177H	P	-	2	0	DEAF1	678045	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	9.261000	0.95576	2.349000	0.79799	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	1	0	1	18	215	0	36	1	9.965275e-01	19	93	0	36	2		0	0	0	0	0	2	1	9.999827e-01	17	212	0	36	2								-3.318837	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.920000	0.570000	1.000000	1.000000	0.885401	0.920000	1	7.300000e-01	1
TPCN2	219931	broad.mit.edu	37	11	68821505	68821505	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68821505C>T	ENST00000294309.3	+	2	215	c.114C>T	c.(112-114)gcC>gcT	p.A38A	TPCN2_ENST00000542467.1_Silent_p.A38A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2			32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		CTGCAGGTGCCGCGGCCAGGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000294309.3	1	1	hg19	CCDS8189.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	1	0	1	29	163	0	45	1	6.115188e-01	9	4	0	45	2		0	0	0	0	0	2	1	1	29	156	0	44	2								-20.000000	1	1	121410	2	34	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999916	0.990000	1	9.900000e-01	1
TPCN2	219931	broad.mit.edu	37	11	68830434	68830434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68830434G>A	ENST00000294309.3	+	6	730	c.629G>A	c.(628-630)cGc>cAc	p.R210H	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2			32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		AAATGCATCCGCTGGTCGCTG	0.632000																								0							SO:0001583	missense			ENST00000294309.3	1	1	hg19	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	g	11.67	1.707623	0.30322	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98419	-4.92;-4.92	4.59	2.37	0.29283	Ion transport (1);	0.185451	0.43260	N	0.000583	D	0.97961	0.9329	M	0.73962	2.25	0.19575	N	0.999961	D;D;B	0.76494	0.999;0.998;0.06	D;D;B	0.66979	0.948;0.912;0.038	D	0.92929	0.6362	10	0.19147	T	0.46	-20.9359	6.095	0.20015	0.4607:0.0:0.5393:0.0	.	210;210;125	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	H	140;210;125;210	ENSP00000294309:R210H;ENSP00000445551:R210H	ENSP00000294309:R210H	R	+	2	0	TPCN2	68587010	1.000000	0.71417	0.007000	0.13788	0.069000	0.16628	2.955000	0.49121	0.395000	0.25257	-1.194000	0.01681	CGC		TCGA-IB-7651-01A-11D-2154-08	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	1	0	1	177	712	0	147	1	9.859258e-01	8	21	0	147	2		0	0	0	0	0	2	1	1	176	703	0	145	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2D2	120776	broad.mit.edu	37	11	6913006	6913006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913006G>A	ENST00000299459.2	-	1	824	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2			18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)			TGAGGTGGGAGCCACAGGTAG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000299459.2	1	1	hg19	CCDS31416.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	1	0	1	56	194	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	53	190	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2D2	120776	broad.mit.edu	37	11	6913214	6913214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913214C>T	ENST00000299459.2	-	1	616	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2			18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)			ATGAGCAATGCTGTTACTGCC	0.498000																								0							SO:0001583	missense			ENST00000299459.2	1	1	hg19	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	0.987	-0.695286	0.03303	.	.	ENSG00000166368	ENST00000299459	T	0.00107	8.72	5.12	-8.63	0.00878	GPCR, rhodopsin-like superfamily (1);	0.510233	0.18384	N	0.142866	T	0.00073	0.0002	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.47407	-0.9120	10	0.25751	T	0.34	-1.6953	0.3389	0.00330	0.2455:0.2205:0.1771:0.3569	.	173	Q9H210	OR2D2_HUMAN	N	173	ENSP00000299459:S173N	ENSP00000299459:S173N	S	-	2	0	OR2D2	6869790	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-2.039000	0.01418	-2.057000	0.00897	-1.792000	0.00626	AGC		TCGA-IB-7651-01A-11D-2154-08	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	1	0	1	56	218	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	56	215	0	55	2								-20.000000	1	1	121390	1	29	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPFIA1	8500	broad.mit.edu	37	11	70170552	70170552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70170552G>A	ENST00000253925.7	+	3	524	c.309G>A	c.(307-309)caG>caA	p.Q103Q	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.Q103Q|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1			65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		GCAGGGAACAGCTCCTTGAAA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000253925.7	1	1	hg19	CCDS31627.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	1	0	0	36	754	0	167	1	8.726012e-01	5	72	0	167	2		0	0	0	0	0	2	1	1	35	739	0	167	2								-5.129159	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.540000	0.380000	1.000000	0.530000	0.565766	0.540000	0	4.500000e-01	6.500000e-01
PPFIA1	8500	broad.mit.edu	37	11	70208223	70208223	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70208223C>T	ENST00000253925.7	+	20	2820	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	p.R869W(1)|p.R869R(1)		65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		GGAGGAAGCCCGGAGACAAGG	0.478000																								2	Substitution - Missense(1)|Substitution - coding silent(1)						SO:0001583	missense			ENST00000253925.7	1	1	hg19	CCDS31627.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.5	4.154992	0.78114	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.20332	2.08;2.08	5.42	4.5	0.54988	.	0.073250	0.53938	D	0.000041	T	0.41766	0.1173	M	0.61703	1.905	0.50813	D	0.999897	D;D	0.89917	0.999;1.0	P;D	0.66351	0.878;0.943	T	0.34925	-0.9809	10	0.66056	D	0.02	.	14.1851	0.65601	0.2859:0.7141:0.0:0.0	.	869;869	Q13136;Q13136-2	LIPA1_HUMAN;.	W	869;869;366	ENSP00000253925:R869W;ENSP00000374198:R869W	ENSP00000253925:R869W	R	+	1	2	PPFIA1	69885871	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.834000	0.39171	1.281000	0.44480	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	1	0	1	62	346	0	76	1	1	48	182	0	76	2		0	0	0	0	0	2	1	1	60	335	0	76	2								-2.392471	0	1	121412	4	41	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPFIA1	8500	broad.mit.edu	37	11	70224261	70224261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70224261G>A	ENST00000253925.7	+	26	3725	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I|AP000487.5_ENST00000524619.1_RNA|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1			65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		CTTCTTCTATGTCTTCCCCCT	0.498000																								0							SO:0001583	missense			ENST00000253925.7	1	1	hg19	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399360	0.25291	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528853	T;T	0.15952	2.39;2.38	4.72	4.72	0.59763	.	0.311546	0.33092	U	0.005294	T	0.14743	0.0356	L	0.27053	0.805	0.41837	D	0.990101	B;B;B	0.14012	0.009;0.0;0.006	B;B;B	0.17098	0.017;0.001;0.005	T	0.05835	-1.0861	10	0.31617	T	0.26	.	17.6892	0.88265	0.0:0.0:1.0:0.0	.	667;1170;1170	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	I	1170;1170;667;26	ENSP00000253925:M1170I;ENSP00000374198:M1170I	ENSP00000253925:M1170I	M	+	3	0	PPFIA1	69901909	1.000000	0.71417	0.663000	0.29738	0.128000	0.20619	5.863000	0.69568	2.180000	0.69256	0.561000	0.74099	ATG		TCGA-IB-7651-01A-11D-2154-08	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	1	0	1	88	429	0	116	1	1	53	126	0	116	2		0	0	0	0	0	2	1	1	86	425	0	116	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTTN	2017	broad.mit.edu	37	11	70256068	70256068	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70256068T>C	ENST00000301843.8	+	5	497		c.e5+2		CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000346329.3_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin			31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)		ATGGATAAGGTAAGTGGCCCG	0.522000																								0							SO:0001630	splice_region_variant			ENST00000301843.8	1	1	hg19	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	T	9.232	1.036166	0.19590	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000415461	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4978	0.67700	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTTN	69933716	1.000000	0.71417	0.073000	0.20177	0.021000	0.10359	4.852000	0.62904	1.873000	0.54277	0.460000	0.39030	.		TCGA-IB-7651-01A-11D-2154-08	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	0	0	0	23	752	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	9.999992e-01	23	741	0	160	2								-18.604190	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.350000	0.220000	1.000000	0.350000	0.386896	0.350000	0	2.800000e-01	4.500000e-01
SHANK2	22941	broad.mit.edu	37	11	70319395	70319395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319395G>A	ENST00000423696.2	-	16	4028	c.3992C>T	c.(3991-3993)cCt>cTt	p.P1331L	SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2			62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		CGAGACCACAGGGCTTGGGGC	0.622000																								0							SO:0001583	missense			ENST00000423696.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148873	0.78001	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.59083	1.8;1.81;2.57;0.29;1.89;1.96	5.91	5.91	0.95273	.	0.047883	0.85682	D	0.000000	T	0.75072	0.3800	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.91635	0.983;0.999;0.757	T	0.74262	-0.3722	10	0.59425	D	0.04	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1331;1710;1115	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	1115;1114;989;1711;1331;1349;1334	ENSP00000399423:P1115L;ENSP00000386491:P1114L;ENSP00000402944:P989L;ENSP00000345193:P1711L;ENSP00000394536:P1331L;ENSP00000294018:P1334L	ENSP00000294018:P1334L	P	-	2	0	SHANK2	69997043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.238000	0.65366	2.799000	0.96334	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	70	319	0	44	0	8.099482e-01	1	15	0	44	2		0	0	0	0	0	2	1	1	69	314	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHANK2	22941	broad.mit.edu	37	11	70319396	70319396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319396G>T	ENST00000423696.2	-	16	4027	c.3991C>A	c.(3991-3993)Cct>Act	p.P1331T	SHANK2_ENST00000338508.4_Missense_Mutation_p.P1711T|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115T|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2			62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		GAGACCACAGGGCTTGGGGCA	0.627000																								0							SO:0001583	missense			ENST00000423696.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.5	3.994457	0.74703	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.58940	1.81;1.83;2.58;0.3;1.91;1.98	5.91	5.91	0.95273	.	0.047883	0.85682	D	0.000000	T	0.75250	0.3824	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.992	D;D;P	0.91635	0.962;0.999;0.894	T	0.75491	-0.3299	10	0.87932	D	0	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1331;1710;1115	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	1115;1114;989;1711;1331;1349;1334	ENSP00000399423:P1115T;ENSP00000386491:P1114T;ENSP00000402944:P989T;ENSP00000345193:P1711T;ENSP00000394536:P1331T;ENSP00000294018:P1334T	ENSP00000294018:P1334T	P	-	1	0	SHANK2	69997044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.861000	0.75478	2.799000	0.96334	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	71	312	0	44	0	8.226213e-01	1	15	0	44	2		0	0	0	0	0	2	1	1	70	309	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHANK2	22941	broad.mit.edu	37	11	70332710	70332710	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70332710A>C	ENST00000423696.2	-	15	2587	c.2551T>G	c.(2551-2553)Tct>Gct	p.S851A	SHANK2_ENST00000338508.4_Missense_Mutation_p.S1231A|SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A|SHANK2_ENST00000409161.1_Missense_Mutation_p.S634A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2			62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		CCCTGTTGAGACTCCTTCATG	0.622000																								0							SO:0001583	missense			ENST00000423696.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.43	1.347053	0.24426	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.88	0.622	0.17648	.	0.321940	0.33253	N	0.005116	T	0.33469	0.0864	M	0.65975	2.015	0.80722	D	1	B;B;B	0.32188	0.245;0.359;0.009	B;B;B	0.36845	0.08;0.234;0.015	T	0.08249	-1.0731	10	0.29301	T	0.29	.	0.4194	0.00453	0.2304:0.3182:0.1853:0.2661	.	851;1230;635	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	A	635;634;509;1231;851;869;854	ENSP00000399423:S635A;ENSP00000386491:S634A;ENSP00000402944:S509A;ENSP00000345193:S1231A;ENSP00000394536:S851A;ENSP00000294018:S854A	ENSP00000294018:S854A	S	-	1	0	SHANK2	70010358	1.000000	0.71417	0.976000	0.42696	0.691000	0.40173	2.898000	0.48672	0.172000	0.19760	0.459000	0.35465	TCT		TCGA-IB-7651-01A-11D-2154-08	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		0	0	1	71	464	0	83	0	1.819277e-02	1	1	0	83	2		0	0	0	0	0	2	1	1	72	457	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SHANK2	22941	broad.mit.edu	37	11	70333167	70333167	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70333167G>T	ENST00000423696.2	-	15	2130	c.2094C>A	c.(2092-2094)ccC>ccA	p.P698P	SHANK2_ENST00000338508.4_Silent_p.P1078P|SHANK2_ENST00000449833.2_Silent_p.P482P|SHANK2_ENST00000409161.1_Silent_p.P481P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2			62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		CGGCGGCAAAGGGGCTGCTGA	0.701000																								0							SO:0001819	synonymous_variant			ENST00000423696.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	109	433	0	76	0	4.118322e-02	1	1	0	76	2		0	0	0	0	0	2	1	1	106	424	0	69	2								-3.482477	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP14	338323	broad.mit.edu	37	11	7060067	7060067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7060067C>A	ENST00000299481.4	+	2	596	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14			21					CAAGATGAACCTGAAGGATCT	0.502000																								0							SO:0001583	missense			ENST00000299481.4	1	1	hg19	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261442	0.23051	.	.	ENSG00000158077	ENST00000299481	T	0.51817	0.69	4.08	2.21	0.28008	Pyrin (2);DEATH-like (2);	0.000000	0.36665	N	0.002478	T	0.61813	0.2377	M	0.77313	2.365	0.22552	N	0.998991	D	0.89917	1.0	D	0.81914	0.995	T	0.49204	-0.8964	10	0.35671	T	0.21	.	6.4316	0.21801	0.0:0.7794:0.0:0.2206	.	84	Q86W24	NAL14_HUMAN	M	84	ENSP00000299481:L84M	ENSP00000299481:L84M	L	+	1	2	NLRP14	7016643	0.998000	0.40836	0.999000	0.59377	0.355000	0.29361	0.801000	0.27055	0.686000	0.31488	-0.140000	0.14226	CTG		TCGA-IB-7651-01A-11D-2154-08	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	0	0	0	6	193	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	9.628470e-01	6	188	0	49	2								-3.536078	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.380000	0.150000	1.000000	0.350000	0.424302	0.380000	0	2.500000e-01	5.700000e-01
NLRP14	338323	broad.mit.edu	37	11	7063707	7063707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7063707C>T	ENST00000299481.4	+	4	796	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14			21					CTGAAGATTTCCATCATGGAA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000299481.4	1	1	hg19	CCDS7776.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	1	0	1	91	343	0	71	1	4.490584e-02	2	0	0	71	2		0	0	0	0	0	2	1	1	90	338	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP14	338323	broad.mit.edu	37	11	7079535	7079535	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7079535G>T	ENST00000299481.4	+	8	2833	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14			21					GTCTCACAGAGGCTGGCTGTG	0.443000																								0							SO:0001583	missense			ENST00000299481.4	1	1	hg19	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050293	0.01981	.	.	ENSG00000158077	ENST00000299481	T	0.19806	2.12	4.06	1.68	0.24146	.	0.403035	0.18198	N	0.148618	T	0.09202	0.0227	N	0.16478	0.41	0.09310	N	1	B	0.31435	0.323	B	0.29176	0.099	T	0.25606	-1.0127	10	0.21014	T	0.42	.	2.9839	0.05962	0.6653:0.0:0.1217:0.213	.	829	Q86W24	NAL14_HUMAN	D	829	ENSP00000299481:E829D	ENSP00000299481:E829D	E	+	3	2	NLRP14	7036111	0.000000	0.05858	0.287000	0.24848	0.436000	0.31835	-0.474000	0.06607	0.231000	0.21079	-1.107000	0.02091	GAG		TCGA-IB-7651-01A-11D-2154-08	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	1	0	1	103	438	0	76	0	0	1	0	0	76	2		0	0	0	0	0	2	1	1	100	433	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBMXL2	27288	broad.mit.edu	37	11	7110430	7110430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7110430G>A	ENST00000306904.5	+	1	266	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2			15					CCTCGAAGCCGAGTTTGGCAA	0.587000																								0							SO:0001583	missense			ENST00000306904.5	0	1	hg19	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	9.776	1.174042	0.21704	.	.	ENSG00000170748	ENST00000306904	D	0.85629	-2.01	2.39	1.41	0.22369	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.871484	0.09940	U	0.736117	T	0.69833	0.3155	N	0.11106	0.095	0.09310	N	1	P	0.42973	0.796	B	0.39217	0.294	T	0.61237	-0.7103	10	0.59425	D	0.04	.	6.7648	0.23560	0.1649:0.0:0.8351:0.0	.	27	O75526	HNRGT_HUMAN	K	27	ENSP00000304139:E27K	ENSP00000304139:E27K	E	+	1	0	RBMXL2	7067006	0.420000	0.25457	0.048000	0.18961	0.842000	0.47809	2.859000	0.48364	0.499000	0.27970	0.455000	0.32223	GAG		TCGA-IB-7651-01A-11D-2154-08	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	0	0	0	5	125	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.362284e-01	5	123	0	24	2								-8.014557	1	0	121412	2	26	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.490000	0.190000	1.000000	1.000000	0.533269	0.490000	0	3.100000e-01	7.500000e-01
RBMXL2	27288	broad.mit.edu	37	11	7111361	7111361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111361C>T	ENST00000306904.5	+	1	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2			15					GACCGCTACTCGAGGGGCCGA	0.662000																								0							SO:0001583	missense			ENST00000306904.5	1	1	hg19	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883498	0.51908	.	.	ENSG00000170748	ENST00000306904	T	0.77489	-1.1	3.73	2.81	0.32909	.	0.078186	0.53938	U	0.000043	T	0.67515	0.2901	L	0.39147	1.195	0.41031	D	0.985153	D	0.53619	0.961	B	0.40285	0.325	T	0.71364	-0.4615	10	0.62326	D	0.03	.	11.6572	0.51325	0.0:0.8191:0.1809:0.0	.	337	O75526	HNRGT_HUMAN	L	337	ENSP00000304139:S337L	ENSP00000304139:S337L	S	+	2	0	RBMXL2	7067937	0.999000	0.42202	0.896000	0.35187	0.880000	0.50808	4.144000	0.58057	1.129000	0.42072	0.563000	0.77884	TCG		TCGA-IB-7651-01A-11D-2154-08	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	1	0	1	27	157	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	27	155	0	34	2								-20.000000	1	1	121364	1	29	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999812	0.990000	1	9.900000e-01	1
RBMXL2	27288	broad.mit.edu	37	11	7111476	7111476	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111476C>T	ENST00000306904.5	+	1	1312	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2			15					TGCCCAGGGGCGGAGGCCGTC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000306904.5	0	1	hg19	CCDS7777.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	1	0	1	19	84	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999954e-01	19	84	0	11	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999894	0.990000	1	9.900000e-01	1
DHCR7	1717	broad.mit.edu	37	11	71146496	71146496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71146496G>A	ENST00000355527.3	-	9	1629	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	DHCR7_ENST00000407721.2_Silent_p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase			19					ACTTGCTGGCGCAGCGGTGCT	0.662000									Smith-Lemli-Opitz syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	SLOS type I & II	ENST00000355527.3	1	1	hg19	CCDS8200.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	1	0	0	20	426	0	66	1	9.984890e-01	20	201	0	66	2		0	0	0	0	0	2	1	9.999951e-01	20	421	0	66	2								-4.828433	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.540000	0.330000	1.000000	0.530000	0.565054	0.540000	0	4.300000e-01	6.800000e-01
DHCR7	1717	broad.mit.edu	37	11	71148891	71148891	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71148891G>T	ENST00000355527.3	-	8	1206	c.930C>A	c.(928-930)gaC>gaA	p.D310E	DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase			19					GCCAGACACAGTCGCCCCAGC	0.557000									Smith-Lemli-Opitz syndrome															0							SO:0001583	missense	Familial Cancer Database	SLOS type I & II	ENST00000355527.3	1	1	hg19	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040308|4.040308	0.75732|0.75732	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000533800;ENST00000525137|ENST00000534795	D;D;D;D|.	0.98381|.	-4.9;-4.9;-4.9;-4.9|.	4.57|4.57	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.91300|0.91300	3.195|3.195	0.51012|0.51012	D|D	0.999908|0.999908	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.74262|0.74262	-0.3722|-0.3722	10|5	0.52906|.	T|.	0.07|.	-43.5291|-43.5291	6.1902|6.1902	0.20520|0.20520	0.328:0.0:0.672:0.0|0.328:0.0:0.672:0.0	.|.	310|.	Q9UBM7|.	DHCR7_HUMAN|.	E|M	310;310;60;99|96	ENSP00000384739:D310E;ENSP00000347717:D310E;ENSP00000435011:D60E;ENSP00000435956:D99E|.	ENSP00000347717:D310E|.	D|L	-|-	3|1	2|2	DHCR7|DHCR7	70826539|70826539	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.767000|0.767000	0.43475|0.43475	2.734000|2.734000	0.47368|0.47368	0.360000|0.360000	0.24265|0.24265	0.561000|0.561000	0.74099|0.74099	GAC|CTG		TCGA-IB-7651-01A-11D-2154-08	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	1	0	1	28	330	0	74	1	9.999831e-01	39	165	0	74	2		0	0	0	0	0	2	1	1	28	323	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.930000	0.630000	1.000000	1.000000	0.901458	0.930000	1	7.700000e-01	1
DHCR7	1717	broad.mit.edu	37	11	71152458	71152458	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71152458G>A	ENST00000355527.3	-	6	717	c.441C>T	c.(439-441)ggC>ggT	p.G147G	DHCR7_ENST00000407721.2_Silent_p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase			19					AGGCTTGCAGGCCATTGATCT	0.547000									Smith-Lemli-Opitz syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	SLOS type I & II	ENST00000355527.3	1	1	hg19	CCDS8200.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	1	0	1	22	129	0	32	1	1	101	159	0	32	2		0	0	0	0	0	2	1	9.999990e-01	21	126	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999459	0.990000	1	9.900000e-01	1
NADSYN1	55191	broad.mit.edu	37	11	71183494	71183494	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183494G>T	ENST00000319023.2	+	6	595		c.e6-1			NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1			25				L-Glutamine(DB00130)	TTCCTCTCCAGGCACACAGAG	0.512000													Ovarian(79;763 1781 6490 50276)											0							SO:0001630	splice_region_variant			ENST00000319023.2	1	1	hg19	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701848	0.48307	.	.	ENSG00000172890	ENST00000319023	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5064	0.50468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NADSYN1	70861142	1.000000	0.71417	0.687000	0.30102	0.115000	0.19883	6.783000	0.75078	2.073000	0.62155	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	1	38	193	0	45	0	0	1	0	0	45	2		0	0	0	0	0	2	1	1	38	191	0	44	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NADSYN1	55191	broad.mit.edu	37	11	71183521	71183521	+	Missense_Mutation	SNP	G	G	A	rs141650373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183521G>A	ENST00000319023.2	+	6	622	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1			25				L-Glutamine(DB00130)	TTTCTGCCTCGGATGATACAG	0.547000													Ovarian(79;763 1781 6490 50276)											0							SO:0001583	missense			ENST00000319023.2	1	1	hg19	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296227	0.40594	4.55E-4	0.0	ENSG00000172890	ENST00000319023	D	0.87412	-2.25	4.26	4.26	0.50523	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	M	0.70787	2.145	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	D	0.87925	0.2706	10	0.23302	T	0.38	-32.6813	12.0571	0.53542	0.0:0.0:1.0:0.0	.	145	Q6IA69	NADE_HUMAN	Q	145	ENSP00000326424:R145Q	ENSP00000326424:R145Q	R	+	2	0	NADSYN1	70861169	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	5.044000	0.64214	2.214000	0.71695	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	1	34	179	0	42	1	9.999763e-01	5	85	0	42	2		0	0	0	0	0	2	1	1	34	178	0	41	2								-2.808673	1	0	121412	35	46	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
NADSYN1	55191	broad.mit.edu	37	11	71184618	71184618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71184618G>A	ENST00000319023.2	+	8	740	c.552G>A	c.(550-552)ccG>ccA	p.P184P		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1			25				L-Glutamine(DB00130)	CCTGCAGCCCGCACATCGACA	0.637000													Ovarian(79;763 1781 6490 50276)											0							SO:0001819	synonymous_variant			ENST00000319023.2	1	1	hg19	CCDS8201.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	1	53	189	0	46	1	9.999903e-01	28	37	0	46	2		0	0	0	0	0	2	1	1	50	186	0	44	2								-3.811929	1	1	121392	1	24	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NADSYN1	55191	broad.mit.edu	37	11	71208551	71208551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71208551C>T	ENST00000319023.2	+	19	1975	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1			25				L-Glutamine(DB00130)	ATGACATATGCGGAGCTCTCG	0.527000													Ovarian(79;763 1781 6490 50276)											0							SO:0001583	missense			ENST00000319023.2	1	1	hg19	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	.	9.137	1.012864	0.19277	2.27E-4	0.0	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.45276	0.9;0.9;0.9	4.81	2.69	0.31865	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.853139	0.10244	N	0.697976	T	0.46814	0.1412	M	0.83012	2.62	0.09310	N	0.999998	B;B	0.21452	0.056;0.031	B;B	0.23419	0.046;0.037	T	0.44467	-0.9326	10	0.46703	T	0.11	-9.3763	8.6767	0.34183	0.1614:0.7441:0.0:0.0945	.	336;596	B3KUU4;Q6IA69	.;NADE_HUMAN	V	596;336;225	ENSP00000326424:A596V;ENSP00000443718:A336V;ENSP00000431820:A225V	ENSP00000326424:A596V	A	+	2	0	NADSYN1	70886199	0.023000	0.18921	0.003000	0.11579	0.111000	0.19643	2.339000	0.43965	1.031000	0.39867	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	1	0	1	25	212	0	46	1	9.999856e-01	5	151	0	46	2		0	0	0	0	0	2	1	9.999998e-01	25	207	0	46	2								-3.221911	1	1	121412	7	38	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.830000	1.000000	1.000000	0.988276	0.990000	1	9.900000e-01	1
NUMA1	4926	broad.mit.edu	37	11	71720154	71720154	+	Missense_Mutation	SNP	C	C	A	rs148604464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71720154C>A	ENST00000393695.3	-	19	5248	c.4917G>T	c.(4915-4917)gaG>gaT	p.E1639D	NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1			65					TCTGCAGCTGCTCCAGGCTCC	0.567000			T	RARA	APL										Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0							SO:0001583	missense			ENST00000393695.3	1	1	hg19	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352129|2.352129	0.41700|0.41700	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.44083|.	2.04;0.93;2.42|.	5.24|5.24	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.49305|.	D|.	0.000142|.	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.32530|0.32530	0.975|0.975	0.32596|0.32596	N|N	0.526508|0.526508	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.998;0.996|.	D;D;D;D;D|.	0.83275|.	0.99;0.996;0.994;0.99;0.987|.	T|T	0.49744|0.49744	-0.8907|-0.8907	10|5	0.37606|.	T|.	0.19|.	.|.	8.4599|8.4599	0.32921|0.32921	0.0:0.7626:0.0:0.2374|0.0:0.7626:0.0:0.2374	.|.	1645;1109;1625;1639;503|.	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9|.	.;.;.;NUMA1_HUMAN;.|.	D|I	503;1625;1639;1188;594|470	ENSP00000260051:E503D;ENSP00000351851:E1625D;ENSP00000377298:E1639D|.	ENSP00000260051:E503D|.	E|S	-|-	3|2	2|0	NUMA1|NUMA1	71397802|71397802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.471000|0.471000	0.32888|0.32888	1.788000|1.788000	0.38714|0.38714	1.206000|1.206000	0.43276|0.43276	0.561000|0.561000	0.74099|0.74099	GAG|AGC		TCGA-IB-7651-01A-11D-2154-08	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1	1	0	1	50	250	0	47	1	1	79	200	0	47	2		0	0	0	0	0	2	1	1	46	248	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUMA1	4926	broad.mit.edu	37	11	71726974	71726974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71726974C>T	ENST00000393695.3	-	15	1906	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.K525K|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1			65					TGGCCTGCTGCTTCAGGCCAG	0.607000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0							SO:0001819	synonymous_variant			ENST00000393695.3	1	1	hg19	CCDS31633.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1	1	0	1	208	785	0	183	1	1	99	295	0	183	2		0	0	0	0	0	2	1	1	203	773	0	177	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUMA1	4926	broad.mit.edu	37	11	71735344	71735344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71735344C>T	ENST00000393695.3	-	5	515	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N|NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1			65					CACACAAAGTCCAGTCTCTCT	0.468000			T	RARA	APL										Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0							SO:0001583	missense			ENST00000393695.3	1	1	hg19	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447454	0.43429	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394;ENST00000541641	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.84;0.84;0.84;0.84	5.12	2.04	0.26737	.	0.834455	0.11087	N	0.601215	T	0.19485	0.0468	N	0.02916	-0.46	0.24399	N	0.994715	B;B;B;B;B;B	0.30281	0.013;0.275;0.275;0.0;0.001;0.0	B;B;B;B;B;B	0.27076	0.004;0.076;0.076;0.002;0.003;0.001	T	0.19614	-1.0300	10	0.10902	T	0.67	.	8.1203	0.30967	0.0:0.7078:0.0:0.2922	.	62;62;62;62;62;62	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	N	62	ENSP00000260051:D62N;ENSP00000351851:D62N;ENSP00000377298:D62N;ENSP00000444880:D62N;ENSP00000442936:D62N;ENSP00000442761:D62N;ENSP00000439759:D62N;ENSP00000438821:D62N;ENSP00000438589:D62N;ENSP00000439092:D62N;ENSP00000444175:D62N;ENSP00000439576:D62N;ENSP00000357955:D62N;ENSP00000438331:D62N;ENSP00000438318:D62N;ENSP00000441598:D62N	ENSP00000260051:D62N	D	-	1	0	NUMA1	71412992	0.861000	0.29849	0.986000	0.45419	0.966000	0.64601	0.095000	0.15127	0.733000	0.32492	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1	1	0	1	81	325	0	98	1	1	51	163	0	98	2		0	0	0	0	0	2	1	1	81	321	0	98	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRTOMT	220074	broad.mit.edu	37	11	71806076	71806076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71806076C>T	ENST00000289488.2	+	5	749	c.371C>T	c.(370-372)gCt>gTt	p.A124V	LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LAMTOR1_ENST00000545249.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000324866.7_Missense_Mutation_p.A124V|LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000536917.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000440313.2_5'UTR|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000435085.1_5'UTR	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing			4					AATAAGCTGGCTGTCCTTCCT	0.562000																								0							SO:0001583	missense			ENST00000289488.2	0	1	hg19	CCDS8208.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388637	0.61956	.	.	ENSG00000184154	ENST00000289488;ENST00000447974;ENST00000423494;ENST00000538478;ENST00000324866;ENST00000439209;ENST00000541614;ENST00000536917	T;T;T;T;T;T;T;T	0.61627	0.09;0.35;0.09;0.09;0.35;0.35;0.35;0.35	5.46	5.46	0.80206	.	0.129035	0.49916	D	0.000131	T	0.53997	0.1831	L	0.53249	1.67	0.80722	D	1	B;B;B	0.31009	0.059;0.303;0.059	B;B;B	0.28232	0.087;0.069;0.055	T	0.54166	-0.8334	10	0.44086	T	0.13	-10.6208	16.2262	0.82293	0.0:1.0:0.0:0.0	.	106;124;124	Q96E66-6;Q96E66-2;Q96E66	.;.;LRC51_HUMAN	V	124;124;106;124;124;124;124;124	ENSP00000289488:A124V;ENSP00000414271:A124V;ENSP00000441249:A106V;ENSP00000444583:A124V;ENSP00000440693:A124V;ENSP00000395139:A124V;ENSP00000438522:A124V;ENSP00000443421:A124V	ENSP00000289488:A124V	A	+	2	0	LRTOMT	71483724	0.976000	0.34144	1.000000	0.80357	0.987000	0.75469	2.159000	0.42339	2.575000	0.86900	0.609000	0.83330	GCT		TCGA-IB-7651-01A-11D-2154-08	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337504.1	0	0	0	10	438	0	103	1	4.527631e-01	3	61	0	103	2		0	0	0	0	0	2	1	9.965422e-01	10	427	0	102	2								-3.420875	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.270000	0.130000	1.000000	0.260000	0.312865	0.270000	0	1.900000e-01	3.800000e-01
FOLR3	2352	broad.mit.edu	37	11	71850696	71850696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850696G>A	ENST00000445078.2	+	5	750	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T|FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)			13				Folic Acid(DB00158)	CACTCCAGCCGCCCTTTGTGA	0.587000																								0							SO:0001583	missense			ENST00000445078.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	N	12.05	1.820448	0.32145	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.76839	-1.05;-1.05;-1.05	2.94	-0.6	0.11642	Folate receptor-like (1);	0.923253	0.08805	U	0.891177	T	0.75221	0.3820	.	.	.	0.09310	N	1	D;P	0.63046	0.992;0.948	P;P	0.52793	0.709;0.7	T	0.62891	-0.6758	8	.	.	.	.	3.5719	0.07921	0.2756:0.0:0.5283:0.196	.	229;185	E9PGT2;P41439	.;FOLR3_HUMAN	T	227;229;186	ENSP00000390338:A227T;ENSP00000399235:A229T;ENSP00000411161:A186T	.	A	+	1	0	FOLR3	71528344	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.804000	0.27098	0.092000	0.17331	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	0	0	1	78	337	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	75	333	0	84	2								-3.288451	1	1	121406	1	32	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOLR3	2352	broad.mit.edu	37	11	71850826	71850826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850826C>T	ENST00000445078.2	+	5	880	c.809C>T	c.(808-810)gCt>gTt	p.A270V	FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V|FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)			13				Folic Acid(DB00158)	AAGTTCTATGCTGCGGCCATG	0.532000																								0							SO:0001583	missense			ENST00000445078.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	N	12.66	2.005899	0.35415	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.75477	-0.7;-0.7;-0.94	2.94	2.94	0.34122	.	0.329884	0.24267	U	0.040024	D	0.83505	0.5269	.	.	.	0.39347	D	0.965682	D;D	0.89917	0.997;1.0	D;D	0.76071	0.985;0.987	D	0.84804	0.0786	8	.	.	.	.	11.6457	0.51259	0.0:1.0:0.0:0.0	.	272;228	E9PGT2;P41439	.;FOLR3_HUMAN	V	270;272;229	ENSP00000390338:A270V;ENSP00000399235:A272V;ENSP00000411161:A229V	.	A	+	2	0	FOLR3	71528474	0.991000	0.36638	0.144000	0.22314	0.029000	0.11900	3.037000	0.49775	1.638000	0.50547	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	0	0	1	34	193	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	34	190	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
FOLR1	2348	broad.mit.edu	37	11	71906964	71906964	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71906964G>A	ENST00000393679.1	+	5	953	c.517G>A	c.(517-519)Gct>Act	p.A173T	FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T|FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T			P15328	FOLR1_HUMAN	folate receptor 1 (adult)			14				Methotrexate(DB00563)	CGCAGTGGGAGCTGCCTGCCA	0.527000																								0							SO:0001583	missense			ENST00000393679.1	1	1	hg19	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	9.244	1.039153	0.19669	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.11	2.19	0.27852	Folate receptor-like (1);	0.469100	0.24499	N	0.037984	T	0.67804	0.2932	L	0.41710	1.295	0.20074	N	0.999932	P	0.40578	0.722	P	0.45946	0.498	T	0.54443	-0.8293	10	0.20519	T	0.43	-6.2945	3.6157	0.08077	0.2076:0.0:0.5941:0.1983	.	173	P15328	FOLR1_HUMAN	T	173	ENSP00000308137:A173T;ENSP00000377286:A173T;ENSP00000377284:A173T;ENSP00000377281:A173T	ENSP00000308137:A173T	A	+	1	0	FOLR1	71584612	0.000000	0.05858	0.319000	0.25293	0.014000	0.08584	0.030000	0.13688	0.473000	0.27368	-0.311000	0.09066	GCT		TCGA-IB-7651-01A-11D-2154-08	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	1	0	1	89	472	0	100	1	5.417763e-01	2	9	0	100	2		0	0	0	0	0	2	1	1	86	453	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPPL1	3636	broad.mit.edu	37	11	71941873	71941873	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71941873A>G	ENST00000298229.2	+	11	1435	c.1231A>G	c.(1231-1233)Atg>Gtg	p.M411V	INPPL1_ENST00000541756.1_Missense_Mutation_p.M169V|INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1			44					GTTGCAGCTCATGAAGAACAA	0.637000																								0							SO:0001583	missense			ENST00000298229.2	1	1	hg19	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	a	16.23	3.063960	0.55432	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.94931	-3.56;-3.56;-3.56	5.55	5.55	0.83447	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.46157	1.445	0.43499	D	0.995749	P	0.43788	0.817	B	0.38500	0.275	D	0.92645	0.6128	10	0.87932	D	0	.	14.5252	0.67884	1.0:0.0:0.0:0.0	.	411	O15357	SHIP2_HUMAN	V	411;169;169	ENSP00000298229:M411V;ENSP00000446360:M169V;ENSP00000444619:M169V	ENSP00000298229:M411V	M	+	1	0	INPPL1	71619521	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.936000	0.92931	2.108000	0.64289	0.379000	0.24179	ATG		TCGA-IB-7651-01A-11D-2154-08	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	1	0	1	50	222	0	60	1	9.999996e-01	26	76	0	60	2		0	0	0	0	0	2	1	1	50	219	0	60	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPPL1	3636	broad.mit.edu	37	11	71948167	71948167	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71948167G>T	ENST00000298229.2	+	26	3083		c.e26-1		INPPL1_ENST00000541756.1_Splice_Site|INPPL1_ENST00000538751.1_Splice_Site|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1			44					TCCACACCCAGGTTGAAGCCA	0.582000																								0							SO:0001630	splice_region_variant			ENST00000298229.2	1	1	hg19	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429636	0.43122	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.622	0.68594	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPPL1	71625815	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.309000	0.72825	2.513000	0.84729	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	1	0	1	108	461	0	76	1	5.344015e-01	9	0	0	76	2		0	0	0	0	0	2	1	1	107	454	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLPB	81570	broad.mit.edu	37	11	72145200	72145200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72145200C>T	ENST00000294053.3	-	1	492	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	CLPB_ENST00000542555.1_5'Flank|CLPB_ENST00000437826.2_Missense_Mutation_p.G26D|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.V107I|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000340729.5_Missense_Mutation_p.V107I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)			19					CTGCTGGGGACCCCGTTCCAG	0.622000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000294053.3	1	1	hg19	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.364430|2.364430	0.41902|0.41902	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000535990;ENST00000437826|ENST00000294053;ENST00000538039;ENST00000340729	T;T|T;T;T	0.36157|0.66638	1.27;2.27|1.92;1.21;-0.22	4.51|4.51	3.57|3.57	0.40892|0.40892	.|.	.|0.224693	.|0.27451	.|N	.|0.019310	T|T	0.47544|0.47544	0.1451|0.1451	N|N	0.14661|0.14661	0.345|0.345	0.25689|0.25689	N|N	0.985717|0.985717	B|B;B;B	0.17667|0.24483	0.023|0.03;0.034;0.104	B|B;B;B	0.18263|0.24394	0.021|0.037;0.053;0.024	T|T	0.44997|0.44997	-0.9291|-0.9291	9|10	0.87932|0.52906	D|T	0|0.07	-9.4933|-9.4933	9.7795|9.7795	0.40640|0.40640	0.2059:0.7941:0.0:0.0|0.2059:0.7941:0.0:0.0	.|.	26|107;107;107	E7EWN6|F8W7P6;Q9H078-2;Q9H078	.|.;.;CLPB_HUMAN	D|I	76;26|107	ENSP00000443822:G76D;ENSP00000407296:G26D|ENSP00000294053:V107I;ENSP00000441518:V107I;ENSP00000340385:V107I	ENSP00000407296:G26D|ENSP00000294053:V107I	G|V	-|-	2|1	0|0	CLPB|CLPB	71822848|71822848	0.822000|0.822000	0.29219|0.29219	0.929000|0.929000	0.37066|0.37066	0.422000|0.422000	0.31414|0.31414	1.858000|1.858000	0.39408|0.39408	1.206000|1.206000	0.43276|0.43276	0.655000|0.655000	0.94253|0.94253	GGT|GTC		TCGA-IB-7651-01A-11D-2154-08	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	0	0	0	14	590	0	97	0	3.743603e-01	1	52	0	97	2		0	0	0	0	0	2	1	9.997297e-01	14	581	0	97	2								-3.412686	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.280000	0.150000	1.000000	0.270000	0.317099	0.280000	0	2.100000e-01	3.800000e-01
EPS8L2	64787	broad.mit.edu	37	11	721660	721660	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:721660G>A	ENST00000533256.1	+	11	1239	c.864G>A	c.(862-864)aaG>aaA	p.K288K	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.K304K|EPS8L2_ENST00000530636.1_Silent_p.K288K|EPS8L2_ENST00000318562.8_Silent_p.K288K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2			13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)			AGCGGAAAAAGGGGAAGAAGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000533256.1	1	1	hg19	CCDS31328.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	1	0	1	42	222	0	48	1	9.999998e-01	56	73	0	48	2		0	0	0	0	0	2	1	1	42	217	0	46	2								-3.165192	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
EPS8L2	64787	broad.mit.edu	37	11	722509	722509	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:722509T>C	ENST00000533256.1	+	14	1543	c.1168T>C	c.(1168-1170)Tcg>Ccg	p.S390P	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P			Q9H6S3	ES8L2_HUMAN	EPS8-like 2			13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)			TAAGGAGATGTCGCTGTGGGA	0.687000																								0							SO:0001583	missense			ENST00000533256.1	1	1	hg19	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	t	12.30	1.897953	0.33535	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	2.98	-0.829	0.10796	.	1.727610	0.03872	U	0.275779	T	0.17662	0.0424	L	0.38175	1.15	0.29120	N	0.880295	B;B	0.31730	0.337;0.337	B;B	0.32289	0.143;0.143	T	0.28267	-1.0049	10	0.41790	T	0.15	-5.1488	6.6122	0.22757	0.1299:0.0:0.6541:0.216	.	406;390	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	P	390;390;390;406	ENSP00000320828:S390P;ENSP00000435585:S390P;ENSP00000436035:S390P;ENSP00000436230:S406P	ENSP00000320828:S390P	S	+	1	0	EPS8L2	712509	0.005000	0.15991	0.399000	0.26333	0.763000	0.43281	-0.021000	0.12504	-0.341000	0.08376	0.398000	0.26397	TCG		TCGA-IB-7651-01A-11D-2154-08	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	1	0	1	37	200	0	59	1	1	109	108	0	59	2		0	0	0	0	0	2	1	1	37	194	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
PDE2A	5138	broad.mit.edu	37	11	72299898	72299898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72299898G>A	ENST00000334456.5	-	13	1245	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S|PDE2A_ENST00000376450.3_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated			36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)	Caffeine(DB00201)|Tofisopam(DB08811)	CTGATGACAGGGACACAGAGC	0.592000																								0							SO:0001583	missense			ENST00000334456.5	1	1	hg19	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.959321|4.959321	0.92726|0.92726	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000538299|ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.|D;D;D;D;D;D	.|0.95447	.|-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.25|5.25	5.25|5.25	0.73442|0.73442	.|GAF (2);	0.692859|0.692859	0.13673|0.13673	N|N	0.370724|0.370724	D|D	0.97247|0.97247	0.9100|0.9100	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.989;0.998;0.999;1.0;0.999	D|D	0.97102|0.97102	0.9798|0.9798	6|10	.|0.87932	.|D	.|0	.|.	17.4063|17.4063	0.87474|0.87474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|219;334;325;327;334	.|E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.|.;PDE2A_HUMAN;.;.;.	L|S	95|334;325;403;327;219;325;158	.|ENSP00000334910:P334S;ENSP00000411657:P325S;ENSP00000442256:P327S;ENSP00000410310:P219S;ENSP00000446399:P325S;ENSP00000439077:P158S	.|ENSP00000334910:P334S	P|P	-|-	2|1	0|0	PDE2A|PDE2A	71977546|71977546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.496000|9.496000	0.97967|0.97967	2.461000|2.461000	0.83175|0.83175	0.491000|0.491000	0.48974|0.48974	CCC|CCT		TCGA-IB-7651-01A-11D-2154-08	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	1	0	1	78	297	0	74	1	8.937140e-01	3	14	0	74	2		0	0	0	0	0	2	1	1	77	294	0	74	2								-3.701473	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARAP1	116985	broad.mit.edu	37	11	72408500	72408500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72408500C>A	ENST00000393609.3	-	21	3023	c.2821G>T	c.(2821-2823)Gac>Tac	p.D941Y	ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y|ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y|ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.D941Y	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1			27					CCCATGAAGTCCAGCCGCCGC	0.637000													Ovarian(102;1198 1520 13195 17913 37529)											0							SO:0001583	missense			ENST00000393609.3	0	1	hg19	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773975	0.90108	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.09	5.09	0.68999	Pleckstrin homology domain (1);	0.174867	0.47852	D	0.000210	T	0.60805	0.2297	M	0.72353	2.195	0.47374	D	0.999408	D;D;D;D;D	0.89917	1.0;0.997;0.998;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.938;0.972;0.989;0.997	T	0.65113	-0.6247	10	0.87932	D	0	.	17.0879	0.86616	0.0:1.0:0.0:0.0	.	696;635;941;941;701	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	Y	941;941;701;696;941;696;635;229;229	ENSP00000352332:D941Y;ENSP00000390461:D941Y;ENSP00000377230:D701Y;ENSP00000335506:D696Y;ENSP00000377233:D941Y;ENSP00000392264:D696Y;ENSP00000403127:D635Y;ENSP00000411452:D229Y;ENSP00000399118:D229Y	ENSP00000335506:D696Y	D	-	1	0	ARAP1	72086148	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.589000	0.67523	2.366000	0.80165	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	0	0	0	7	167	0	38	1	9.870476e-01	6	186	0	38	2		0	0	0	0	0	2	1	9.796386e-01	6	164	0	37	2								-3.944929	1	0	121360	1	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.500000	0.220000	1.000000	0.470000	0.539413	0.500000	0	3.400000e-01	7.300000e-01
ARAP1	116985	broad.mit.edu	37	11	72423582	72423582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72423582G>A	ENST00000393609.3	-	6	981	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000359373.5_Missense_Mutation_p.A260V	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1			27					CACGCGCACGGCCCGTGGGAC	0.667000													Ovarian(102;1198 1520 13195 17913 37529)											0							SO:0001583	missense			ENST00000393609.3	1	1	hg19	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453783	0.63290	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.24;3.19;3.24;3.18	4.34	4.34	0.51931	.	0.493437	0.17716	N	0.164432	T	0.06462	0.0166	L	0.27053	0.805	0.30659	N	0.754637	B;B;P;P;P	0.42908	0.437;0.437;0.793;0.689;0.573	B;B;B;B;B	0.35182	0.046;0.046;0.197;0.097;0.099	T	0.06162	-1.0842	10	0.72032	D	0.01	.	12.2025	0.54335	0.0:0.0:1.0:0.0	.	15;15;260;260;20	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	V	260;260;20;15;260;15;15;49	ENSP00000352332:A260V;ENSP00000390461:A260V;ENSP00000377230:A20V;ENSP00000335506:A15V;ENSP00000377233:A260V;ENSP00000392264:A15V;ENSP00000403127:A15V	ENSP00000335506:A15V	A	-	2	0	ARAP1	72101230	0.992000	0.36948	0.998000	0.56505	0.887000	0.51463	4.806000	0.62569	2.250000	0.74265	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	1	0	1	238	1037	0	187	1	1	16	121	0	187	2		0	0	0	0	0	2	1	1	232	994	0	176	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCHSD2	9873	broad.mit.edu	37	11	72578921	72578921	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72578921T>C	ENST00000409418.4	-	13	1680	c.1297A>G	c.(1297-1299)Act>Gct	p.T433A	RNU6-672P_ENST00000383911.1_RNA|FCHSD2_ENST00000409314.1_Missense_Mutation_p.T457A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2			22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		GAGTGTAAAGTGCCATTACTG	0.418000																								0							SO:0001583	missense			ENST00000409418.4	1	1	hg19	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	T	5.766	0.325774	0.10900	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.42131	2.58;2.67;2.69;2.55;0.98	5.78	4.62	0.57501	.	0.957063	0.08803	N	0.891462	T	0.14485	0.0350	N	0.00926	-1.1	0.28941	N	0.890961	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15665	-1.0429	10	0.06625	T	0.88	-17.6345	8.3069	0.32047	0.3462:0.0:0.0:0.6538	.	297;433;377	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	A	377;457;433;297;377	ENSP00000308978:T377A;ENSP00000386987:T457A;ENSP00000386722:T433A;ENSP00000402972:T297A;ENSP00000386314:T377A	ENSP00000308978:T377A	T	-	1	0	FCHSD2	72256569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.518000	0.35877	2.198000	0.70561	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	1	0	1	13	74	0	21	1	9.999921e-01	3	138	0	21	2		0	0	0	0	0	2	1	9.996758e-01	13	74	0	21	2								-19.998570	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.970000	1.000000	1.000000	0.996961	0.990000	1	9.900000e-01	1
EPS8L2	64787	broad.mit.edu	37	11	725803	725803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:725803C>A	ENST00000533256.1	+	18	2011	c.1636C>A	c.(1636-1638)Cta>Ata	p.L546I	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2			13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)			CTGCAACATCCTAGGCGAGGC	0.766000																								0							SO:0001583	missense			ENST00000533256.1	0	1	hg19	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	c	15.75	2.927052	0.52759	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	3.19	2.27	0.28462	Src homology-3 domain (3);	0.118681	0.35555	N	0.003132	T	0.42517	0.1206	L	0.46885	1.475	0.40983	D	0.984797	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.31641	-0.9936	10	0.72032	D	0.01	-20.6528	6.846	0.23988	0.0:0.7603:0.0:0.2397	.	562;546	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	I	546;546;546;562	ENSP00000320828:L546I;ENSP00000435585:L546I;ENSP00000436035:L546I;ENSP00000436230:L562I	ENSP00000320828:L546I	L	+	1	2	EPS8L2	715803	1.000000	0.71417	0.988000	0.46212	0.184000	0.23303	1.194000	0.32174	0.688000	0.31529	0.457000	0.33378	CTA		TCGA-IB-7651-01A-11D-2154-08	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	1	0	0	11	48	0	9	1	9.971663e-01	19	31	0	9	2		0	0	0	0	0	2	1	9.988767e-01	11	48	0	9	2								-19.957990	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998494	0.990000	1	9.900000e-01	1
P2RY2	5029	broad.mit.edu	37	11	72945946	72945946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945946G>A	ENST00000311131.2	+	3	1209	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2			25				Suramin(DB04786)	GCGCACCATCGCCGTGGTGCT	0.647000																								0							SO:0001583	missense			ENST00000311131.2	1	1	hg19	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157056	0.38119	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.35236	1.32;1.32;1.32	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.122925	0.51477	D	0.000086	T	0.30070	0.0753	L	0.53671	1.685	0.33178	D	0.549133	P	0.39696	0.683	B	0.36845	0.234	T	0.50833	-0.8781	10	0.59425	D	0.04	.	6.7979	0.23734	0.2067:0.0:0.7933:0.0	.	248	P41231	P2RY2_HUMAN	T	248	ENSP00000377222:A248T;ENSP00000310305:A248T;ENSP00000377221:A248T	ENSP00000310305:A248T	A	+	1	0	P2RY2	72623594	0.960000	0.32886	0.666000	0.29783	0.606000	0.37113	2.458000	0.45014	2.170000	0.68504	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	1	0	1	108	392	0	96	1	8.052768e-01	7	6	0	96	2		0	0	0	0	0	2	1	1	104	383	0	96	2								-3.975102	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY2	5029	broad.mit.edu	37	11	72945948	72945948	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945948C>T	ENST00000311131.2	+	3	1211	c.744C>T	c.(742-744)gcC>gcT	p.A248A	P2RY2_ENST00000393597.2_Silent_p.A248A|P2RY2_ENST00000393596.2_Silent_p.A248A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2			25				Suramin(DB04786)	GCACCATCGCCGTGGTGCTGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000311131.2	1	1	hg19	CCDS8219.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	1	0	1	100	403	0	98	1	7.971808e-01	2	12	0	98	2		0	0	0	0	0	2	1	1	97	394	0	98	2								-3.436088	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF17	9828	broad.mit.edu	37	11	73020891	73020891	+	Missense_Mutation	SNP	A	A	T	rs149459553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73020891A>T	ENST00000263674.3	+	1	1558	c.1208A>T	c.(1207-1209)gAc>gTc	p.D403V	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17			32					AAGGACGACGACCTATGGTCT	0.657000																								0							SO:0001583	missense			ENST00000263674.3	1	1	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574003	0.45902	.	.	ENSG00000110237	ENST00000263674	T	0.67171	-0.25	4.32	4.32	0.51571	.	0.163752	0.29246	N	0.012717	T	0.59018	0.2163	L	0.27053	0.805	0.58432	D	0.999999	P	0.41748	0.761	P	0.46585	0.521	T	0.63651	-0.6589	10	0.87932	D	0	-12.0854	9.8212	0.40883	1.0:0.0:0.0:0.0	.	403	Q96PE2	ARHGH_HUMAN	V	403	ENSP00000263674:D403V	ENSP00000263674:D403V	D	+	2	0	ARHGEF17	72698539	1.000000	0.71417	0.912000	0.35992	0.766000	0.43426	6.063000	0.71162	1.821000	0.53095	0.379000	0.24179	GAC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	0	0	1	61	269	1	68	0	9.631135e-01	3	40	1	68	4		0	0	0	0	0	2	1	1	60	264	1	67	17								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF17	9828	broad.mit.edu	37	11	73074371	73074371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73074371G>A	ENST00000263674.3	+	15	5467	c.5117G>A	c.(5116-5118)aGc>aAc	p.S1706N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17			32					TGCGGCACCAGCCCAATGGAT	0.667000																								0							SO:0001583	missense			ENST00000263674.3	1	1	hg19	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763094	0.69763	.	.	ENSG00000110237	ENST00000263674	T	0.60424	0.19	5.24	5.24	0.73138	.	0.046414	0.85682	D	0.000000	T	0.46889	0.1416	L	0.27053	0.805	0.52099	D	0.99994	P	0.36599	0.56	B	0.33121	0.158	T	0.52624	-0.8551	10	0.59425	D	0.04	-21.2442	18.2437	0.89977	0.0:0.0:1.0:0.0	.	1706	Q96PE2	ARHGH_HUMAN	N	1706	ENSP00000263674:S1706N	ENSP00000263674:S1706N	S	+	2	0	ARHGEF17	72752019	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.895000	0.87343	2.626000	0.88956	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	1	0	1	33	139	0	31	0	9.999763e-01	0	74	0	31	2		0	0	0	0	0	2	1	1	33	136	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RELT	84957	broad.mit.edu	37	11	73103471	73103471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73103471G>A	ENST00000064780.2	+	6	844	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	RELT_ENST00000393580.2_Missense_Mutation_p.A195T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor			12					CCACTGCACGGCGCACAAGGA	0.682000																								0							SO:0001583	missense			ENST00000064780.2	0	1	hg19	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701646	0.15172	.	.	ENSG00000054967	ENST00000064780;ENST00000393580	T;T	0.71461	-0.57;-0.57	5.69	3.84	0.44239	.	0.245949	0.40302	N	0.001131	T	0.49712	0.1573	N	0.03209	-0.39	0.43673	D	0.996101	P	0.47604	0.898	P	0.51615	0.675	T	0.54957	-0.8215	10	0.02654	T	1	-21.6908	8.3317	0.32191	0.0787:0.0:0.7666:0.1547	.	195	Q969Z4	TR19L_HUMAN	T	195	ENSP00000064780:A195T;ENSP00000377207:A195T	ENSP00000064780:A195T	A	+	1	0	RELT	72781119	0.982000	0.34865	0.105000	0.21289	0.239000	0.25481	2.100000	0.41777	0.779000	0.33543	-0.226000	0.12346	GCG		TCGA-IB-7651-01A-11D-2154-08	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	0	0	0	7	216	0	40	0	3.004324e-01	1	30	0	40	2		0	0	0	0	0	2	1	9.801525e-01	7	213	0	40	2								-8.888568	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.390000	0.170000	1.000000	0.370000	0.433457	0.390000	0	2.600000e-01	5.800000e-01
PLEKHB1	58473	broad.mit.edu	37	11	73372564	73372564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73372564G>A	ENST00000354190.5	+	8	1080	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	Y_RNA_ENST00000516923.1_RNA|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1			7					CAGCGCCGGCGCCCCTCTGGC	0.682000											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000354190.5	1	1	hg19	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244204	0.59103	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000542185;ENST00000541597;ENST00000535129;ENST00000540431	.	.	.	4.82	4.82	0.62117	.	0.235619	0.43110	D	0.000609	T	0.36524	0.0970	N	0.08118	0	0.30350	N	0.784885	P;D;D	0.65815	0.724;0.976;0.995	B;B;P	0.54312	0.15;0.417;0.748	T	0.34204	-0.9838	9	0.48119	T	0.1	-5.9888	15.1153	0.72397	0.0:0.0:1.0:0.0	.	186;182;217	Q59EU5;Q9UF11-2;Q9UF11	.;.;PKHB1_HUMAN	T	217;182;163;198;112;133;163;163;170	.	ENSP00000227214:A163T	A	+	1	0	PLEKHB1	73050212	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	4.200000	0.58433	2.677000	0.91161	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1	1	0	1	81	347	0	70	1	9.999776e-01	23	44	0	70	2		0	0	0	0	0	2	1	1	79	344	0	68	2								-20.000000	1	1	120830	2	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL48	51642	broad.mit.edu	37	11	73555945	73555945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73555945G>A	ENST00000310614.7	+	5	951	c.295G>A	c.(295-297)Gat>Aat	p.D99N	MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Missense_Mutation_p.D81N|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000398483.3_5'UTR	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48			1					GACTGCATATGATATGACCCT	0.418000																								0							SO:0001583	missense			ENST00000310614.7	1	1	hg19	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808917	0.90707	.	.	ENSG00000175581	ENST00000310614;ENST00000535529	T	0.64085	-0.08	5.53	5.53	0.82687	.	0.044994	0.85682	D	0.000000	T	0.73281	0.3567	M	0.72353	2.195	0.58432	D	0.999995	D;D	0.63880	0.993;0.991	P;P	0.61477	0.889;0.831	T	0.74453	-0.3660	10	0.51188	T	0.08	-13.9634	10.4017	0.44233	0.0889:0.0:0.9111:0.0	.	81;99	B4DN34;Q96GC5	.;RM48_HUMAN	N	99;81	ENSP00000308717:D99N	ENSP00000308717:D99N	D	+	1	0	MRPL48	73233593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.168000	0.71908	2.600000	0.87896	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	1	0	1	56	217	0	56	1	9.999994e-01	31	55	0	56	2		0	0	0	0	0	2	1	1	55	214	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL48	51642	broad.mit.edu	37	11	73571043	73571043	+	Nonsense_Mutation	SNP	C	C	T	rs137907774	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73571043C>T	ENST00000310614.7	+	6	1119	c.463C>T	c.(463-465)Cga>Tga	p.R155*	MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*|MRPL48_ENST00000314282.7_Nonsense_Mutation_p.R56*|MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48			1					CACCCATGAGCGAGTGGTTCA	0.438000																								0							SO:0001587	stop_gained			ENST00000310614.7	0	1	hg19	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	C	41	8.561256	0.98863	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000314282	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0739	12.9338	0.58303	0.1619:0.8381:0.0:0.0	rs11547693	.	.	.	X	155;137;56;56;56	.	ENSP00000308717:R155X	R	+	1	2	MRPL48	73248691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.776000	0.38594	2.937000	0.99478	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	1	0	1	23	107	0	38	1	9.999963e-01	4	100	0	38	2		0	0	0	0	0	2	1	9.999996e-01	23	105	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
MRPL48	51642	broad.mit.edu	37	11	73575366	73575366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73575366G>A	ENST00000310614.7	+	8	1246	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q|MRPL48_ENST00000314282.7_Missense_Mutation_p.R98Q|MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48			1					TTCAAGGGACGATTCAAAGCT	0.433000																								0							SO:0001583	missense			ENST00000310614.7	1	1	hg19	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521329	0.96416	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000398483;ENST00000542303;ENST00000314282	T;T	0.64618	0.05;-0.11	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82768	-0.0294	10	0.72032	D	0.01	-38.8651	18.0523	0.89353	0.0:0.0:1.0:0.0	.	179;197	B4DN34;Q96GC5	.;RM48_HUMAN	Q	197;179;98;98;106;98	ENSP00000308717:R197Q;ENSP00000443685:R106Q	ENSP00000308717:R197Q	R	+	2	0	MRPL48	73253014	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.613000	0.82986	2.937000	0.99478	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	1	0	1	20	105	0	27	1	9.999913e-01	10	101	0	27	2		0	0	0	0	0	2	1	9.999972e-01	20	104	0	27	2								-3.290879	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999688	0.990000	1	9.900000e-01	1
PAAF1	80227	broad.mit.edu	37	11	73630036	73630036	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73630036T>C	ENST00000310571.3	+	10	1030	c.977T>C	c.(976-978)cTa>cCa	p.L326P	PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P|PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P|PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P|PAAF1_ENST00000544909.1_Missense_Mutation_p.L327P	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1			24	Breast(11;7.42e-05)				GCACCAGTTCTATCCCTGCTA	0.428000																								0							SO:0001583	missense			ENST00000310571.3	1	1	hg19	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184042	0.57800	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.292711	0.23265	N	0.050091	T	0.37100	0.0991	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.971;0.994	P;P	0.55713	0.753;0.782	T	0.11567	-1.0582	10	0.36615	T	0.2	-3.0581	13.0093	0.58722	0.0:0.0:0.0:1.0	.	309;326	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	P	211;326;211;309;309;309;327	ENSP00000441333:L211P;ENSP00000311665:L326P;ENSP00000438789:L211P;ENSP00000438124:L309P;ENSP00000441494:L309P;ENSP00000365564:L309P;ENSP00000438071:L327P	ENSP00000311665:L326P	L	+	2	0	PAAF1	73307684	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	3.498000	0.53302	1.949000	0.56562	0.533000	0.62120	CTA		TCGA-IB-7651-01A-11D-2154-08	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	1	0	1	44	157	0	71	1	9.999998e-01	13	77	0	71	2		0	0	0	0	0	2	1	1	43	153	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UCP3	7352	broad.mit.edu	37	11	73712499	73712499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73712499C>T	ENST00000314032.4	-	7	1449	c.897G>A	c.(895-897)cgG>cgA	p.R299R	UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Silent_p.R197R	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)			12	Breast(11;2.08e-05)				TCATCAGGGCCCGTTTCAGCT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000314032.4	1	1	hg19	CCDS8229.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	1	0	1	48	251	0	67	0	2.677420e-02	0	2	0	67	2		0	0	0	0	0	2	1	1	48	244	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UCP3	7352	broad.mit.edu	37	11	73714966	73714966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73714966G>A	ENST00000314032.4	-	6	1282	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Missense_Mutation_p.R142W|UCP3_ENST00000426995.2_Missense_Mutation_p.R244W	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)			12	Breast(11;2.08e-05)				TTCATATACCGGGTCTTCACC	0.592000																								0							SO:0001583	missense			ENST00000314032.4	1	1	hg19	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379920	0.95945	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	D;D;D	0.84589	-1.82;-1.87;-1.82	5.07	5.07	0.68467	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98312	1.0524	10	0.87932	D	0	-0.9863	18.4155	0.90568	0.0:0.0:1.0:0.0	.	244	P55916	UCP3_HUMAN	W	244;142;244	ENSP00000323740:R244W;ENSP00000343615:R142W;ENSP00000392143:R244W	ENSP00000323740:R244W	R	-	1	2	UCP3	73392614	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.504000	0.60414	2.528000	0.85240	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	1	0	1	88	382	0	86	0	0	0	1	0	86	2		0	0	0	0	0	2	1	1	89	375	0	85	2								-2.874273	1	1	121412	6	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2CD3	26005	broad.mit.edu	37	11	73768505	73768505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73768505G>T	ENST00000334126.7	-	25	5262	c.5036C>A	c.(5035-5037)aCc>aAc	p.T1679N	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1679N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3			64	Breast(11;4.16e-06)				AACCACTTGGGTGTATACAGG	0.443000																								0							SO:0001583	missense			ENST00000334126.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.0	4.364919	0.82463	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.74632	-0.86;-0.86;-0.86	5.03	5.03	0.67393	.	0.050138	0.85682	D	0.000000	D	0.82365	0.5021	M	0.63843	1.955	0.46131	D	0.998889	P	0.52463	0.953	P	0.56434	0.798	D	0.84574	0.0657	10	0.87932	D	0	-9.0877	18.3221	0.90242	0.0:0.0:1.0:0.0	.	1679	Q4AC94-1	.	N	1679;1679;1660;487	ENSP00000334379:T1679N;ENSP00000323339:T1679N;ENSP00000388750:T487N	ENSP00000323339:T1679N	T	-	2	0	C2CD3	73446153	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	8.053000	0.89449	2.505000	0.84491	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	98	481	0	134	1	9.471954e-01	6	20	0	134	2		0	0	0	0	0	2	1	1	97	477	0	132	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2CD3	26005	broad.mit.edu	37	11	73789414	73789414	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73789414G>T	ENST00000334126.7	-	23	4575	c.4349C>A	c.(4348-4350)cCt>cAt	p.P1450H	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1450H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3			64	Breast(11;4.16e-06)				CTTCTTGAGAGGGGTCCAAAA	0.453000																								0							SO:0001583	missense			ENST00000334126.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.30	3.355783	0.61293	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.89875	-2.58;-2.58;-2.58	5.35	5.35	0.76521	.	0.393546	0.28203	N	0.016218	D	0.91442	0.7299	L	0.42245	1.32	0.31271	N	0.691796	D	0.89917	1.0	D	0.72338	0.977	D	0.90329	0.4350	10	0.51188	T	0.08	-8.1999	13.3976	0.60863	0.0776:0.0:0.9224:0.0	.	1450	Q4AC94-1	.	H	1450;1450;1431;258	ENSP00000334379:P1450H;ENSP00000323339:P1450H;ENSP00000388750:P258H	ENSP00000323339:P1450H	P	-	2	0	C2CD3	73467062	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	2.187000	0.42602	2.502000	0.84385	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0	20	430	0	74	0	2.555410e-01	1	20	0	74	2		0	0	0	0	0	2	1	9.999945e-01	19	422	0	73	2								-2.620552	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.530000	0.330000	1.000000	0.520000	0.560444	0.530000	0	4.200000e-01	6.800000e-01
C2CD3	26005	broad.mit.edu	37	11	73803472	73803472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73803472T>C	ENST00000334126.7	-	19	3732	c.3506A>G	c.(3505-3507)aAc>aGc	p.N1169S	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1169S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3			64	Breast(11;4.16e-06)				TGATGACTGGTTCCTCAATTC	0.398000																								0							SO:0001583	missense			ENST00000334126.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	1.677	-0.507468	0.04231	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.08546	3.08;3.08	5.4	1.74	0.24563	.	0.660446	0.16439	N	0.214374	T	0.02012	0.0063	N	0.02011	-0.69	0.24298	N	0.995133	B	0.02656	0.0	B	0.04013	0.001	T	0.43163	-0.9408	10	0.06365	T	0.9	-7.8523	1.3094	0.02094	0.123:0.1822:0.2526:0.4423	.	1169	Q4AC94-1	.	S	1169	ENSP00000334379:N1169S;ENSP00000323339:N1169S	ENSP00000323339:N1169S	N	-	2	0	C2CD3	73481120	0.998000	0.40836	0.954000	0.39281	0.890000	0.51754	0.780000	0.26760	0.333000	0.23563	0.363000	0.22086	AAC		TCGA-IB-7651-01A-11D-2154-08	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	130	466	0	79	1	9.727553e-01	4	19	0	79	2		0	0	0	0	0	2	1	1	129	452	0	78	2								-20.000000	1	1	121412	6	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2CD3	26005	broad.mit.edu	37	11	73809190	73809190	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73809190C>T	ENST00000334126.7	-	16	3069	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.R948Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3			64	Breast(11;4.16e-06)				TAAAAAGACTCGAAGACTCCC	0.468000																								0							SO:0001583	missense			ENST00000334126.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808921	0.90707	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.39997	1.05;1.05	5.62	5.62	0.85841	.	0.055819	0.64402	D	0.000002	T	0.51517	0.1679	L	0.37630	1.12	0.37872	D	0.930098	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.59425	D	0.04	-9.4236	9.4907	0.38958	0.0:0.7798:0.1446:0.0755	.	948	Q4AC94-1	.	Q	948	ENSP00000334379:R948Q;ENSP00000323339:R948Q	ENSP00000323339:R948Q	R	-	2	0	C2CD3	73486838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.813000	0.62620	2.794000	0.96219	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	75	405	0	99	1	8.601093e-01	5	16	0	99	2		0	0	0	0	0	2	1	1	73	398	0	98	2								-3.079155	1	1	121412	3	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2CD3	26005	broad.mit.edu	37	11	73814404	73814404	+	Silent	SNP	C	C	T	rs147082398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814404C>T	ENST00000334126.7	-	14	2578	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	C2CD3_ENST00000313663.7_Silent_p.T784T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3			64	Breast(11;4.16e-06)				GGGAGGCTGGCGTAGCTACGA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000334126.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	94	414	0	74	1	8.233596e-01	5	11	0	74	2		0	0	0	0	0	2	1	1	92	409	0	74	2								-3.995781	1	0	121412	268	56	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2CD3	26005	broad.mit.edu	37	11	73814473	73814473	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814473C>A	ENST00000334126.7	-	14	2509	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q761H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3			64	Breast(11;4.16e-06)				GCACCAAGTTCTGTGCTTTCT	0.438000																								0							SO:0001583	missense			ENST00000334126.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.90	2.077006	0.36662	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11169	2.8;2.83	5.81	2.59	0.31030	.	0.837535	0.11047	N	0.605427	T	0.24470	0.0593	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.07731	-1.0757	10	0.66056	D	0.02	-0.3047	5.2091	0.15307	0.0:0.5886:0.1741:0.2374	.	761	Q4AC94-1	.	H	761	ENSP00000334379:Q761H;ENSP00000323339:Q761H	ENSP00000323339:Q761H	Q	-	3	2	C2CD3	73492121	0.981000	0.34729	0.078000	0.20375	0.089000	0.18198	1.026000	0.30103	1.457000	0.47850	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	77	373	0	63	1	9.314642e-01	9	15	0	63	2		0	0	0	0	0	2	1	1	76	365	0	63	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2CD3	26005	broad.mit.edu	37	11	73850003	73850003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73850003G>T	ENST00000334126.7	-	5	943	c.717C>A	c.(715-717)gaC>gaA	p.D239E	C2CD3_ENST00000313663.7_Missense_Mutation_p.D239E|C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3			64	Breast(11;4.16e-06)				AGCATACATGGTCTTTTCCCC	0.363000																								0							SO:0001583	missense			ENST00000334126.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.06	2.422539	0.43020	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.11169	2.8;2.86	5.84	4.93	0.64822	.	0.054285	0.64402	D	0.000001	T	0.30947	0.0781	M	0.76002	2.32	0.31437	N	0.67244	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.17715	-1.0360	10	0.59425	D	0.04	-14.0972	11.5079	0.50476	0.0835:0.0:0.9165:0.0	.	239;239	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	E	239	ENSP00000334379:D239E;ENSP00000323339:D239E	ENSP00000289350:D239E	D	-	3	2	C2CD3	73527651	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	2.400000	0.44504	2.771000	0.95319	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	35	167	0	36	1	9.407455e-01	3	22	0	36	2		0	0	0	0	0	2	1	1	35	165	0	36	2								-19.795690	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
P4HA3	283208	broad.mit.edu	37	11	73980723	73980723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73980723C>T	ENST00000331597.4	-	11	1486	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III			15	Breast(11;2.31e-05)				CTGAGGTTGGCATAGATGAAG	0.582000																								0							SO:0001583	missense			ENST00000331597.4	1	1	hg19	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693484	0.48202	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.59083	1.59;0.29	5.25	4.33	0.51752	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.096594	0.64402	D	0.000001	T	0.70369	0.3216	M	0.63169	1.94	0.44728	D	0.997721	D;B	0.69078	0.997;0.136	D;B	0.65323	0.934;0.142	T	0.72883	-0.4157	10	0.54805	T	0.06	-8.3059	13.6279	0.62178	0.0:0.8435:0.1565:0.0	.	481;481	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	T	481	ENSP00000332170:A481T;ENSP00000401749:A481T	ENSP00000332170:A481T	A	-	1	0	P4HA3	73658371	1.000000	0.71417	0.993000	0.49108	0.410000	0.31052	4.766000	0.62279	1.445000	0.47624	-0.175000	0.13238	GCC		TCGA-IB-7651-01A-11D-2154-08	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	1	0	1	38	294	0	71	0	7.576673e-01	0	23	0	71	2		0	0	0	0	0	2	1	1	38	289	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.980000	1.000000	1.000000	0.998159	0.990000	1	9.900000e-01	1
PGM2L1	283209	broad.mit.edu	37	11	74049647	74049647	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74049647C>A	ENST00000298198.4	-	13	1944		c.e13-1			NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1			26	Breast(11;3.32e-06)				CAGGCAGCACCTATGCAAAAT	0.343000																								0							SO:0001630	splice_region_variant			ENST00000298198.4	1	1	hg19	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403256	0.62288	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.5	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4863	0.55874	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	PGM2L1	73727295	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.484000	0.81180	1.460000	0.47911	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	1	0	1	61	341	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	59	333	0	95	2								-2.810068	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGM2L1	283209	broad.mit.edu	37	11	74054391	74054391	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74054391A>G	ENST00000298198.4	-	10	1600	c.1289T>C	c.(1288-1290)cTt>cCt	p.L430P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1			26	Breast(11;3.32e-06)				AAATGCAAAAAGGACTTCTTT	0.318000																								0							SO:0001583	missense			ENST00000298198.4	1	1	hg19	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064889	0.76187	.	.	ENSG00000165434	ENST00000298198	T	0.47177	0.85	5.92	5.92	0.95590	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.225935	0.37955	N	0.001868	T	0.65428	0.2690	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.65734	-0.6096	10	0.48119	T	0.1	-21.5015	14.3046	0.66377	1.0:0.0:0.0:0.0	.	430	Q6PCE3	PGM2L_HUMAN	P	430	ENSP00000298198:L430P	ENSP00000298198:L430P	L	-	2	0	PGM2L1	73732039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.255000	0.74692	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	1	0	1	67	280	0	54	1	9.578955e-01	9	15	0	54	2		0	0	0	0	0	2	1	1	66	271	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRDL2	25884	broad.mit.edu	37	11	74417568	74417568	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74417568C>T	ENST00000376332.3	-	6	1042	c.546G>A	c.(544-546)tcG>tcA	p.S182S	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.S182S	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2			15	Hepatocellular(1;0.098)				CCTCTTCATCCGATTGCTCAC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000376332.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1	1	0	1	59	328	0	90	0	0	0	1	0	90	2		0	0	0	0	0	2	1	1	55	319	0	89	2								-2.970607	1	1	121412	3	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT9	143425	broad.mit.edu	37	11	7441783	7441783	+	Missense_Mutation	SNP	G	G	A	rs140525588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7441783G>A	ENST00000318881.6	+	6	1621	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX			38					AGGCAACGAGGCTGAGAGGCT	0.468000																								0							SO:0001583	missense			ENST00000318881.6	1	1	hg19	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650448	0.87958	.	.	ENSG00000170743	ENST00000318881	T	0.71341	-0.56	5.64	4.72	0.59763	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000026	T	0.74222	0.3688	L	0.51853	1.615	0.80722	D	1	P	0.45569	0.861	P	0.51701	0.677	T	0.76130	-0.3072	10	0.59425	D	0.04	.	13.7524	0.62915	0.0:0.0:0.845:0.1549	.	462	Q86SS6	SYT9_HUMAN	T	462	ENSP00000324419:A462T	ENSP00000324419:A462T	A	+	1	0	SYT9	7398359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.644000	0.74338	1.361000	0.45981	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	1	0	1	81	348	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	79	334	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRDL2	25884	broad.mit.edu	37	11	74424519	74424519	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74424519G>T	ENST00000376332.3	-	3	697	c.201C>A	c.(199-201)gcC>gcA	p.A67A	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.A67A	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2			15	Hepatocellular(1;0.098)				AACTCACATGGGCGCCCTGAA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000376332.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1	1	0	1	47	194	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	47	192	0	48	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF169	254225	broad.mit.edu	37	11	74545772	74545772	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74545772G>T	ENST00000299563.4	+	5	907	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169			15					ACACAGCCCAGGAAAGAGCGA	0.478000																								0							SO:0001583	missense			ENST00000299563.4	1	1	hg19	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636237	0.67130	.	.	ENSG00000166439	ENST00000299563	T	0.50001	0.76	5.86	-0.421	0.12332	.	0.363893	0.35040	N	0.003491	T	0.58736	0.2143	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.56498	-0.7969	10	0.66056	D	0.02	-2.5919	5.2435	0.15485	0.454:0.0:0.4111:0.1349	.	298	Q8NCN4	RN169_HUMAN	H	298	ENSP00000299563:Q298H	ENSP00000299563:Q298H	Q	+	3	2	RNF169	74223420	0.994000	0.37717	0.989000	0.46669	0.965000	0.64279	0.144000	0.16135	-0.030000	0.13804	-0.145000	0.13849	CAG		TCGA-IB-7651-01A-11D-2154-08	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	1	0	1	14	174	0	61	1	8.169692e-01	9	32	0	61	2		0	0	0	0	0	2	1	9.997560e-01	14	170	0	61	2								-2.841953	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.890000	0.510000	1.000000	1.000000	0.861456	0.890000	1	6.800000e-01	1
XRRA1	143570	broad.mit.edu	37	11	74570255	74570255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74570255G>A	ENST00000340360.6	-	12	1425	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1			20					TGGGGCCAGCGTCTGGTTCCT	0.498000																								0							SO:0001583	missense			ENST00000340360.6	1	1	hg19	CCDS44680.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.0	4.362635	0.82353	.	.	ENSG00000166435	ENST00000340360;ENST00000344880	T	0.53423	0.62	6.07	4.06	0.47325	.	.	.	.	.	T	0.55210	0.1906	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.55315	-0.8160	9	0.48119	T	0.1	-10.3559	9.074	0.36511	0.0:0.161:0.6719:0.167	.	365	Q6P2D8	XRRA1_HUMAN	M	365;351	ENSP00000339918:T365M	ENSP00000339918:T365M	T	-	2	0	XRRA1	74247903	0.997000	0.39634	0.995000	0.50966	0.996000	0.88848	1.994000	0.40757	1.529000	0.49120	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	1	0	1	21	61	0	20	0	2.840417e-01	0	4	0	20	2		0	0	0	0	0	2	1	9.999991e-01	21	60	0	20	2								-20.000000	1	1	120834	11	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
XRRA1	143570	broad.mit.edu	37	11	74617337	74617337	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74617337T>A	ENST00000340360.6	-	10	1257	c.926A>T	c.(925-927)gAt>gTt	p.D309V	XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1			20					CAGTTGCTCATCTGAGTCCTC	0.498000																								0							SO:0001583	missense			ENST00000340360.6	1	1	hg19	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105787	0.77096	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.51817	0.69;1.45;0.71	5.56	5.56	0.83823	.	0.671525	0.14183	N	0.335896	T	0.47820	0.1466	L	0.53249	1.67	0.31762	N	0.633189	P;P;P;P	0.50617	0.8;0.514;0.852;0.937	B;B;B;P	0.44394	0.143;0.284;0.354;0.448	T	0.58498	-0.7626	10	0.46703	T	0.11	-1.0607	12.1158	0.53863	0.0:0.0:0.0:1.0	.	309;76;309;309	Q6P2D8;E9PL06;Q6P2D8-2;Q6P2D8-4	XRRA1_HUMAN;.;.;.	V	309;76;309;309;309	ENSP00000339918:D309V;ENSP00000319303:D76V;ENSP00000435838:D309V	ENSP00000319303:D76V	D	-	2	0	XRRA1	74294985	0.093000	0.21703	0.090000	0.20809	0.234000	0.25298	3.565000	0.53798	2.125000	0.65367	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	1	0	1	45	218	0	52	1	9.743767e-01	3	28	0	52	2		0	0	0	0	0	2	1	1	45	213	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO2B1	11309	broad.mit.edu	37	11	74914430	74914430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74914430G>A	ENST00000289575.5	+	13	2302	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1			39				Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TGTGGGCGTCGAGCTGTCTGT	0.607000																								0							SO:0001583	missense			ENST00000289575.5	1	1	hg19	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364276	0.41902	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.24	1.2	0.21068	Major facilitator superfamily domain, general substrate transporter (1);	0.526977	0.19505	N	0.112643	T	0.18467	0.0443	N	0.11154	0.105	0.09310	N	0.999998	B;B;B	0.23249	0.082;0.066;0.046	B;B;B	0.15484	0.013;0.011;0.013	T	0.23726	-1.0180	10	0.13108	T	0.6	.	7.8034	0.29187	0.3524:0.0:0.6476:0.0	.	492;409;636	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	Q	636;409;520;492;409;614	ENSP00000289575:R636Q;ENSP00000341286:R409Q;ENSP00000434112:R520Q;ENSP00000436324:R492Q;ENSP00000389653:R409Q;ENSP00000388912:R614Q	ENSP00000289575:R636Q	R	+	2	0	SLCO2B1	74592078	0.026000	0.19158	0.279000	0.24732	0.897000	0.52465	0.461000	0.21940	0.216000	0.20781	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	1	0	1	119	559	0	131	1	1	36	325	0	131	2		0	0	0	0	0	2	1	1	119	548	0	130	2								-3.101332	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARRB1	408	broad.mit.edu	37	11	74994458	74994458	+	Missense_Mutation	SNP	C	C	T	rs148019407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74994458C>T	ENST00000420843.2	-	5	324	c.227G>A	c.(226-228)cGc>cAc	p.R76H	ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H|ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1			11					CAGGTCCTTGCGAAAGGTCAG	0.642000																								0							SO:0001583	missense			ENST00000420843.2	1	1	hg19	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632928	0.67015	0.0	1.16E-4	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.89968	3.075	0.80722	D	1	P;P	0.51791	0.75;0.948	B;B	0.41571	0.086;0.36	T	0.61182	-0.7114	10	0.62326	D	0.03	-6.2033	14.647	0.68767	0.0:1.0:0.0:0.0	.	76;76	P49407-2;P49407	.;ARRB1_HUMAN	H	76;76;76;71	ENSP00000409581:R76H;ENSP00000377141:R76H;ENSP00000353124:R76H;ENSP00000433171:R71H	ENSP00000353124:R76H	R	-	2	0	ARRB1	74672106	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.320000	0.79064	2.299000	0.77371	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	1	0	1	49	243	0	60	1	9.998732e-01	13	56	0	60	2		0	0	0	0	0	2	1	1	47	238	0	59	2								-20.000000	1	1	121412	12	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GDPD5	81544	broad.mit.edu	37	11	75153439	75153439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153439G>T	ENST00000336898.3	-	12	1973	c.1136C>A	c.(1135-1137)gCc>gAc	p.A379D	GDPD5_ENST00000526177.1_Missense_Mutation_p.A241D|GDPD5_ENST00000376282.3_Missense_Mutation_p.A260D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000533784.1_Missense_Mutation_p.A260D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.A134D	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5			20					GTGCAGCACGGCCTCCAGAGT	0.672000																								0							SO:0001583	missense			ENST00000336898.3	0	1	hg19	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.278002	0.59758	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	5.37	5.37	0.77165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.285067	0.39083	N	0.001475	T	0.22475	0.0542	L	0.36672	1.1	0.80722	D	1	D;P	0.55800	0.973;0.549	P;B	0.54100	0.742;0.194	T	0.00326	-1.1815	10	0.66056	D	0.02	-21.6643	16.6226	0.84934	0.0:0.0:1.0:0.0	.	260;379	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	D	241;260;379;379;134;260	ENSP00000434050:A241D;ENSP00000437049:A260D;ENSP00000433214:A379D;ENSP00000337972:A379D;ENSP00000435196:A134D;ENSP00000365459:A260D	ENSP00000337972:A379D	A	-	2	0	GDPD5	74831087	0.695000	0.27747	0.953000	0.39169	0.864000	0.49448	3.667000	0.54547	2.522000	0.85027	0.450000	0.29827	GCC		TCGA-IB-7651-01A-11D-2154-08	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	1	0	0	12	40	0	8	1	9.975688e-01	16	24	0	8	2		0	0	0	0	0	2	1	9.994301e-01	12	39	0	7	2								-19.999970	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999660	0.990000	1	9.900000e-01	1
GDPD5	81544	broad.mit.edu	37	11	75153542	75153542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153542G>T	ENST00000336898.3	-	12	1870	c.1033C>A	c.(1033-1035)Ctc>Atc	p.L345I	GDPD5_ENST00000526177.1_Missense_Mutation_p.L207I|GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5			20					AGCTCCAGGAGCTCTGCCAGG	0.632000																								0							SO:0001583	missense			ENST00000336898.3	1	1	hg19	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.912522	0.92178	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.34	5.34	0.76211	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.304858	0.31554	N	0.007460	T	0.24314	0.0589	L	0.41961	1.31	0.80722	D	1	D;D	0.57571	0.98;0.971	P;P	0.54664	0.758;0.755	T	0.00247	-1.1881	10	0.51188	T	0.08	-34.0308	16.549	0.84458	0.0:0.0:1.0:0.0	.	226;345	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	I	207;226;345;345;100;226	ENSP00000434050:L207I;ENSP00000437049:L226I;ENSP00000433214:L345I;ENSP00000337972:L345I;ENSP00000435196:L100I;ENSP00000365459:L226I	ENSP00000337972:L345I	L	-	1	0	GDPD5	74831190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.266000	0.51569	2.498000	0.84270	0.450000	0.29827	CTC		TCGA-IB-7651-01A-11D-2154-08	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	1	0	1	32	166	0	47	1	9.758595e-01	7	27	0	47	2		0	0	0	0	0	2	1	1	32	163	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
MAP6	4135	broad.mit.edu	37	11	75316859	75316859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75316859G>A	ENST00000304771.3	-	3	2060	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	MAP6_ENST00000434603.2_Missense_Mutation_p.A437V|MAP6_ENST00000526740.1_Missense_Mutation_p.A108V	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6			19	Ovarian(111;0.11)				TTACTCTTTCGCCTCAGCCAG	0.468000													Esophageal Squamous(181;1115 2007 8647 17065 22697)											0							SO:0001583	missense			ENST00000304771.3	1	1	hg19	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265520	0.95399	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.72051	-0.62;-0.02	5.39	5.39	0.77823	.	0.000000	0.47455	D	0.000227	D	0.83658	0.5302	M	0.70275	2.135	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.83901	0.0290	10	0.52906	T	0.07	-18.7907	18.0851	0.89455	0.0:0.0:1.0:0.0	.	437	Q96JE9	MAP6_HUMAN	V	437;108;108;437	ENSP00000307093:A437V;ENSP00000415108:A437V	ENSP00000307093:A437V	A	-	2	0	MAP6	74994507	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.420000	0.97426	2.676000	0.91093	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	1	0	1	122	551	0	102	0	9.853392e-01	0	32	0	102	2		0	0	0	0	0	2	1	1	118	541	0	99	2								-20.000000	1	1	121412	1	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOGAT2	80168	broad.mit.edu	37	11	75442258	75442258	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75442258A>T	ENST00000198801.5	+	6	1002	c.932A>T	c.(931-933)gAg>gTg	p.E311V	MOGAT2_ENST00000526712.1_Missense_Mutation_p.E229V	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2			20	Ovarian(111;0.103)				TATATCAAAGAGCTGTGCAAC	0.552000																								0							SO:0001583	missense			ENST00000198801.5	1	1	hg19	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064722	0.76187	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14144	2.53;2.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	H	0.95574	3.69	0.58432	D	0.999997	D	0.63880	0.993	D	0.64877	0.93	T	0.61178	-0.7115	10	0.44086	T	0.13	-15.3991	15.6572	0.77150	1.0:0.0:0.0:0.0	.	311	Q3SYC2	MOGT2_HUMAN	V	311;229	ENSP00000198801:E311V;ENSP00000436283:E229V	ENSP00000198801:E311V	E	+	2	0	MOGAT2	75119906	0.993000	0.37304	0.402000	0.26371	0.978000	0.69477	3.826000	0.55738	2.371000	0.80710	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	1	0	1	79	337	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	79	332	0	110	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UVRAG	7405	broad.mit.edu	37	11	75599929	75599929	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75599929T>C	ENST00000356136.3	+	5	730	c.489T>C	c.(487-489)ggT>ggC	p.G163G	UVRAG_ENST00000528420.1_Silent_p.G62G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated			32					GATACTATGGTGCTCCATTTG	0.353000																								0							SO:0001819	synonymous_variant			ENST00000356136.3	1	1	hg19	CCDS8241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	1	0	1	32	127	0	30	1	9.999573e-01	5	62	0	30	2		0	0	0	0	0	2	1	1	32	126	0	29	2								-19.931710	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UVRAG	7405	broad.mit.edu	37	11	75718637	75718637	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75718637A>G	ENST00000356136.3	+	10	1212	c.971A>G	c.(970-972)gAg>gGg	p.E324G	UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated			32					TTACTCTCTGAGCTTTCCTAC	0.303000																								0							SO:0001583	missense			ENST00000356136.3	1	1	hg19	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794272	0.90453	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.37411	1.2;1.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58951	-0.7545	10	0.72032	D	0.01	-22.5946	15.1937	0.73067	1.0:0.0:0.0:0.0	.	324	Q9P2Y5	UVRAG_HUMAN	G	324;223	ENSP00000348455:E324G;ENSP00000436039:E223G	ENSP00000348455:E324G	E	+	2	0	UVRAG	75396285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.491000	0.90468	2.367000	0.80283	0.528000	0.53228	GAG		TCGA-IB-7651-01A-11D-2154-08	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	1	0	1	56	305	0	53	1	9.995614e-01	14	51	0	53	2		0	0	0	0	0	2	1	1	54	301	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UVRAG	7405	broad.mit.edu	37	11	75851896	75851896	+	Silent	SNP	A	A	G	rs143874379		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75851896A>G	ENST00000356136.3	+	15	1780	c.1539A>G	c.(1537-1539)agA>agG	p.R513R	UVRAG_ENST00000531818.1_Silent_p.R141R|UVRAG_ENST00000533454.1_Silent_p.R141R|UVRAG_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000539288.1_Silent_p.R141R|UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000538870.1_Silent_p.R69R	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated			32					AGAATGAGAGACTTCAGTACA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000356136.3	1	1	hg19	CCDS8241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	0	0	0	33	389	0	77	0	9.665897e-01	1	66	0	77	2		0	0	0	0	0	2	1	1	31	379	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.930000	0.650000	1.000000	1.000000	0.904633	0.930000	1	7.800000e-01	1
WNT11	7481	broad.mit.edu	37	11	75907625	75907625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75907625C>T	ENST00000322563.3	-	2	345	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11			20					CATGACCTCGCGGGCGGCGTG	0.627000																								0							SO:0001583	missense			ENST00000322563.3	1	1	hg19	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118971	0.37436	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76578	-1.03	5.06	5.06	0.68205	.	0.056202	0.64402	D	0.000001	T	0.70996	0.3288	L	0.45698	1.435	0.58432	D	0.999998	B	0.18863	0.031	B	0.18561	0.022	T	0.70048	-0.4979	10	0.72032	D	0.01	.	10.986	0.47523	0.0:0.9146:0.0:0.0854	.	74	O96014	WNT11_HUMAN	H	74	ENSP00000325526:R74H	ENSP00000325526:R74H	R	-	2	0	WNT11	75585273	0.999000	0.42202	0.883000	0.34634	0.010000	0.07245	4.081000	0.57627	2.334000	0.79466	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	1	0	0	105	451	0	99	0	5.911335e-01	0	10	0	99	2		0	0	0	0	0	2	1	1	106	444	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKRIR	5612	broad.mit.edu	37	11	76063034	76063034	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063034A>C	ENST00000260045.3	-	5	1265	c.1160T>G	c.(1159-1161)gTt>gGt	p.V387G	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)			25					AAAAGAACAAACTTCCTCAAT	0.383000																								0							SO:0001583	missense			ENST00000260045.3	1	1	hg19	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685370	0.68157	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.23754	1.89;1.89	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.275476	0.41938	D	0.000792	T	0.30262	0.0759	L	0.50333	1.59	0.80722	D	1	P	0.51791	0.948	P	0.45829	0.494	T	0.08764	-1.0706	10	0.59425	D	0.04	.	14.7428	0.69469	1.0:0.0:0.0:0.0	.	387	O43422	P52K_HUMAN	G	212;387	ENSP00000436249:V212G;ENSP00000260045:V387G	ENSP00000260045:V387G	V	-	2	0	PRKRIR	75740682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.649000	0.74364	1.956000	0.56807	0.524000	0.50904	GTT		TCGA-IB-7651-01A-11D-2154-08	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	1	0	1	84	326	0	87	1	9.999999e-01	21	70	0	87	2		0	0	0	0	0	2	1	1	73	282	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKRIR	5612	broad.mit.edu	37	11	76063238	76063238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063238C>T	ENST00000260045.3	-	5	1061	c.956G>A	c.(955-957)gGa>gAa	p.G319E	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)			25					CATATTTAATCCCCACTTCTC	0.383000																								0							SO:0001583	missense			ENST00000260045.3	0	1	hg19	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662339	0.67700	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.27256	1.68;1.68	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.56335	-0.7996	10	0.51188	T	0.08	.	18.3441	0.90315	0.0:1.0:0.0:0.0	.	319	O43422	P52K_HUMAN	E	144;319	ENSP00000436249:G144E;ENSP00000260045:G319E	ENSP00000260045:G319E	G	-	2	0	PRKRIR	75740886	1.000000	0.71417	0.945000	0.38365	0.604000	0.37047	5.409000	0.66374	2.416000	0.81992	0.644000	0.83932	GGA		TCGA-IB-7651-01A-11D-2154-08	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	0	0	0	21	581	0	122	1	6.240673e-01	2	57	0	122	2		0	0	0	0	0	2	1	9.999145e-01	14	401	0	183	2								-3.465133	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.420000	0.260000	1.000000	0.410000	0.448700	0.420000	0	3.300000e-01	5.300000e-01
C11orf30	56946	broad.mit.edu	37	11	76169327	76169327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76169327G>A	ENST00000529032.1	+	4	346	c.346G>A	c.(346-348)Gct>Act	p.A116T	C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A130T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30			60					TACTGTAACAGCTAATGCTGT	0.473000																								0							SO:0001583	missense			ENST00000529032.1	1	1	hg19	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728817	0.89390	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.993;0.993;0.993;0.999;1.0;1.0;0.997;1.0;0.997	D;D;D;D;D;D;D;D;D	0.91635	0.984;0.984;0.984;0.997;0.999;0.998;0.99;0.998;0.971	T	0.78753	-0.2081	9	0.56958	D	0.05	-9.4108	20.1133	0.97917	0.0:0.0:1.0:0.0	.	130;130;130;116;116;116;116;116;116	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	T	116;116;116;116;130;130;116;130;116	.	ENSP00000334130:A116T	A	+	1	0	C11orf30	75846975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.762000	0.94881	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	1	0	1	71	336	0	82	1	8.844863e-01	4	16	0	82	2		0	0	0	0	0	2	1	1	70	332	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C11orf30	56946	broad.mit.edu	37	11	76257202	76257202	+	Missense_Mutation	SNP	C	C	T	rs150867470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76257202C>T	ENST00000529032.1	+	19	3635	c.3635C>T	c.(3634-3636)tCg>tTg	p.S1212L	C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1121L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30			60					GAGTCCTGTTCGAGTCCATCC	0.522000																								0							SO:0001583	missense			ENST00000529032.1	1	1	hg19	CCDS8244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.219679|2.219679	0.39201|0.39201	0.001364|0.001364	0.0|0.0	ENSG00000158636|ENSG00000158636	ENST00000531793|ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.151517	.|0.45867	.|D	.|0.000338	.|T	.|0.51329	.|0.1668	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;B;B;P;B;P	.|0.63880	.|0.993;0.273;0.273;0.828;0.273;0.828	.|P;B;B;B;B;B	.|0.56163	.|0.793;0.041;0.041;0.097;0.041;0.097	.|T	.|0.56153	.|-0.8026	.|9	.|0.72032	.|D	.|0.01	-7.9955|-7.9955	15.3534|15.3534	0.74409|0.74409	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	.|1121;1213;1227;1213;1114;1212	.|B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.|.;.;.;.;.;EMSY_HUMAN	X|L	71|1114;1212;894;1227;1121;1213;1213;1212	.|.	.|ENSP00000334130:S1212L	R|S	+|+	1|2	2|0	C11orf30|C11orf30	75934850|75934850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.003000|4.003000	0.57061|0.57061	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	1	0	1	82	336	0	109	1	9.953819e-01	9	27	0	109	2		0	0	0	0	0	2	1	1	82	332	0	108	2								-3.571885	1	1	121412	20	45	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPFIBP2	8495	broad.mit.edu	37	11	7654163	7654163	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7654163C>T	ENST00000299492.4	+	12	1522	c.1134C>T	c.(1132-1134)acC>acT	p.T378T	PPFIBP2_ENST00000533792.1_Silent_p.T220T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Silent_p.T266T|PPFIBP2_ENST00000530181.1_Silent_p.T235T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)			32					CACTGGAAACCAGGTAAGAGG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000299492.4	1	1	hg19	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937398	0.34189	.	.	ENSG00000166387	ENST00000534409	.	.	.	5.35	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2833	6.8839	0.24189	0.3726:0.466:0.1614:0.0	.	.	.	.	X	58	.	.	Q	+	1	0	PPFIBP2	7610739	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.126000	0.31344	1.231000	0.43661	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	1	0	1	23	125	0	32	1	9.991640e-01	14	51	0	32	2		0	0	0	0	0	2	1	9.999996e-01	23	122	0	32	2								-3.119455	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999790	0.990000	1	9.900000e-01	1
PPFIBP2	8495	broad.mit.edu	37	11	7672936	7672936	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7672936T>C	ENST00000299492.4	+	23	2685	c.2297T>C	c.(2296-2298)aTc>aCc	p.I766T	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I623T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)			32					CTTCTCAACATCCCCCCACAA	0.552000																								0							SO:0001583	missense			ENST00000299492.4	1	1	hg19	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488844	0.84962	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.95027	0.8390	M	0.93462	3.42	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96012	0.9002	10	0.87932	D	0	-18.7694	14.3292	0.66541	0.0:0.0:0.0:1.0	.	654;654;689;608;623;766	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	T	766;107;608;689;654;623	ENSP00000299492:I766T;ENSP00000436498:I608T;ENSP00000435469:I654T;ENSP00000437321:I623T	ENSP00000299492:I766T	I	+	2	0	PPFIBP2	7629512	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	1	0	1	80	308	0	90	1	1	40	86	0	90	2		0	0	0	0	0	2	1	1	78	298	0	89	2								-2.818181	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B3GNT6	192134	broad.mit.edu	37	11	76751323	76751323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76751323G>A	ENST00000533140.1	+	2	866	c.728G>A	c.(727-729)cGc>cAc	p.R243H	B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H|B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)			8					CCACCCGGCCGCCACCTGTTC	0.692000																								0							SO:0001583	missense			ENST00000533140.1	1	1	hg19	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	g	2.734	-0.263716	0.05754	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.40756	1.02;1.02;1.02	2.71	0.741	0.18336	.	1.469590	0.04406	N	0.365184	T	0.30665	0.0772	L	0.31120	0.905	0.09310	N	1	B	0.14805	0.011	B	0.16722	0.016	T	0.18493	-1.0335	10	0.28530	T	0.3	.	5.4637	0.16632	0.3984:0.0:0.6016:0.0	.	243	Q6ZMB0	B3GN6_HUMAN	H	243;243;154	ENSP00000435352:R243H;ENSP00000346256:R243H;ENSP00000403463:R154H	ENSP00000346256:R243H	R	+	2	0	B3GNT6	76428971	0.000000	0.05858	0.203000	0.23512	0.015000	0.08874	0.311000	0.19380	0.190000	0.20209	-0.355000	0.07637	CGC		TCGA-IB-7651-01A-11D-2154-08	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	1	0	0	21	67	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999989e-01	19	67	0	11	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
CAPN5	726	broad.mit.edu	37	11	76796041	76796041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76796041G>A	ENST00000278559.3	+	2	298	c.109G>A	c.(109-111)Gac>Aac	p.D37N	CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N|CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5			30					CGCCACTGACGACTCACTCTA	0.657000																								0							SO:0001583	missense			ENST00000278559.3	1	1	hg19	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812369	0.50527	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.18	5.18	0.71444	Peptidase C2, calpain, catalytic domain (3);	0.173178	0.48767	D	0.000164	T	0.23766	0.0575	L	0.52126	1.63	0.58432	D	0.999998	D;B;B;D	0.54601	0.967;0.283;0.269;0.967	P;B;B;P	0.46940	0.532;0.03;0.067;0.454	T	0.00981	-1.1492	10	0.54805	T	0.06	.	16.1934	0.82006	0.0:0.0:1.0:0.0	.	75;37;77;37	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	37;37;77;37;37;37	ENSP00000278559:D37N;ENSP00000435894:D37N;ENSP00000432332:D37N;ENSP00000409996:D37N	ENSP00000278559:D37N	D	+	1	0	CAPN5	76473689	1.000000	0.71417	0.962000	0.40283	0.023000	0.10783	3.769000	0.55303	2.415000	0.81967	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	1	0	1	58	245	0	45	1	1	57	89	0	45	2		0	0	0	0	0	2	1	1	54	224	0	37	2								-3.523388	1	1	121392	1	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OMP	4975	broad.mit.edu	37	11	76814037	76814037	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76814037C>A	ENST00000529803.1	+	1	152	c.152C>A	c.(151-153)tCt>tAt	p.S51Y	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein			5					CCAGCGGAGTCTGTGTACCGC	0.647000																								0							SO:0001583	missense			ENST00000529803.1	1	1	hg19	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.858095	0.00558	.	.	ENSG00000254550	ENST00000529803	T	0.31510	1.49	5.12	0.87	0.19102	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.25256	N	0.98963	B	0.10296	0.003	B	0.13407	0.009	T	0.35176	-0.9799	9	0.02654	T	1	.	3.0411	0.06139	0.3394:0.3208:0.0:0.3398	.	51	P47874	OMP_HUMAN	Y	51	ENSP00000436376:S51Y	ENSP00000436376:S51Y	S	+	2	0	OMP	76491685	0.005000	0.15991	0.993000	0.49108	0.089000	0.18198	0.288000	0.18939	0.330000	0.23485	0.462000	0.41574	TCT		TCGA-IB-7651-01A-11D-2154-08	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	1	0	1	63	211	0	51	0	5.441323e-02	0	2	0	51	2		0	0	0	0	0	2	1	1	63	204	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPN5	726	broad.mit.edu	37	11	76825452	76825452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76825452G>A	ENST00000278559.3	+	5	860	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q|CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5			30					GTGCACAGCCGGGGCGGCCTC	0.587000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000278559.3	1	1	hg19	CCDS8248.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	32	5.115359	0.94339	0.0	1.16E-4	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.88201	-2.35;-2.35;-2.35	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.120719	0.56097	D	0.000029	D	0.93831	0.8027	M	0.71206	2.165	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.991;0.991;1.0	D;P;P;D	0.91635	0.999;0.701;0.701;0.999	D	0.94435	0.7653	10	0.72032	D	0.01	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	262;264;264;224	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	Q	224;264;224;264;264	ENSP00000278559:R224Q;ENSP00000432332:R224Q;ENSP00000409996:R264Q	ENSP00000278559:R224Q	R	+	2	0	CAPN5	76503100	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.860000	0.86993	2.438000	0.82558	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	1	0	1	204	999	0	246	1	1	106	148	0	246	2		0	0	0	0	0	2	1	1	202	984	0	244	2								-2.808605	1	1	121412	6	44	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO7A	4647	broad.mit.edu	37	11	76869383	76869383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76869383G>A	ENST00000409709.3	+	9	1182	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T|MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA			64					CATCCGCTCCGCCATGAAGGT	0.612000																								0							SO:0001583	missense			ENST00000409709.3	1	1	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006606	0.93287	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.72	5.72	0.89469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.994;1.0	D	0.94018	0.7290	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	304;304;304	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	304;304;304;293;303;303;303	ENSP00000386331:A304T;ENSP00000386689:A304T;ENSP00000392185:A304T;ENSP00000386635:A293T	ENSP00000340325:A303T	A	+	1	0	MYO7A	76547031	1.000000	0.71417	0.964000	0.40570	0.940000	0.58332	7.967000	0.87967	2.711000	0.92665	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1	41	137	0	30	0	5.098111e-01	0	7	0	30	2		0	0	0	0	0	2	1	1	40	134	0	29	2								-20.000000	1	1	121202	1	27	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO7A	4647	broad.mit.edu	37	11	76870504	76870504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76870504G>A	ENST00000409709.3	+	10	1287	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	p.E339Q(1)		64					ACGCACATTTGAAAACCTGGA	0.602000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000409709.3	1	1	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269780	0.40095	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.218301	0.38720	N	0.001598	T	0.63307	0.2500	L	0.31294	0.92	0.44323	D	0.997201	B;B;B	0.23990	0.095;0.024;0.087	B;B;B	0.27076	0.063;0.025;0.076	T	0.59563	-0.7431	10	0.38643	T	0.18	.	18.6353	0.91376	0.0:0.0:1.0:0.0	.	339;339;339	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	339;339;339;328;338;338;338	ENSP00000386331:E339K;ENSP00000386689:E339K;ENSP00000392185:E339K;ENSP00000386635:E328K	ENSP00000340325:E338K	E	+	1	0	MYO7A	76548152	1.000000	0.71417	0.993000	0.49108	0.343000	0.28985	7.571000	0.82399	2.392000	0.81423	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1	36	273	0	58	0	1.986731e-01	0	7	0	58	2		0	0	0	0	0	2	1	1	32	262	0	58	2								-3.221910	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998340	0.990000	1	9.900000e-01	1
MYO7A	4647	broad.mit.edu	37	11	76891429	76891429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76891429C>T	ENST00000409709.3	+	22	2868	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA			64					GTATCTGTGGCGCCTCGAGGC	0.587000																								0							SO:0001583	missense			ENST00000409709.3	1	1	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.932269	0.73442	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89050	-2.42;-2.46;-2.42;-2.43;-2.25	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;P;P	0.61800	0.871;0.871;0.894;0.871	D	0.89193	0.3552	10	0.39692	T	0.17	.	18.9552	0.92655	0.0:1.0:0.0:0.0	.	866;855;866;866	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	C	866;866;866;855;77;865;865;742;865;47	ENSP00000386331:R866C;ENSP00000386689:R866C;ENSP00000392185:R866C;ENSP00000386635:R855C;ENSP00000417017:R47C	ENSP00000345075:R742C	R	+	1	0	MYO7A	76569077	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	3.622000	0.54217	2.476000	0.83614	0.448000	0.29417	CGC		TCGA-IB-7651-01A-11D-2154-08	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	0	5	115	0	28	0	1.216878e-01	0	12	0	28	2		0	0	0	0	0	2	1	9.012899e-01	4	95	0	20	2								-8.196050	1	1	120464	4	29	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.530000	0.200000	1.000000	1.000000	0.570053	0.530000	0	3.400000e-01	8.100000e-01
MYO7A	4647	broad.mit.edu	37	11	76912528	76912528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912528G>A	ENST00000409709.3	+	36	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA			64					CTTTGCCAAGGGAGACCTCAT	0.597000																								0							SO:0001583	missense			ENST00000409709.3	1	1	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972120	0.92919	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.58	4.58	0.56647	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87699	0.2559	10	0.87932	D	0	.	17.5911	0.87997	0.0:0.0:1.0:0.0	.	1581;1592;1630	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	1630;1592;1581;803;1629;1599;1506;772;245	ENSP00000386331:G1630R;ENSP00000392185:G1592R;ENSP00000386635:G1581R;ENSP00000417017:G772R	ENSP00000345075:G1506R	G	+	1	0	MYO7A	76590176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.222000	0.95196	2.375000	0.81037	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1	32	125	0	26	1	9.745342e-01	2	24	0	26	2		0	0	0	0	0	2	1	1	32	123	0	26	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO7A	4647	broad.mit.edu	37	11	76912632	76912632	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912632C>T	ENST00000409709.3	+	36	5264	c.4992C>T	c.(4990-4992)acC>acT	p.T1664T	MYO7A_ENST00000458637.2_Silent_p.T1626T|MYO7A_ENST00000409619.2_Silent_p.T1615T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA			64					ACTTCCCCACCGACAGTGTGT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000409709.3	1	1	hg19	CCDS53683.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	1	0	1	38	185	0	56	0	9.445922e-01	1	25	0	56	2		0	0	0	0	0	2	1	1	38	182	0	56	2								-2.673176	1	1	121146	97	50	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GDPD4	220032	broad.mit.edu	37	11	76969510	76969510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76969510G>A	ENST00000376217.2	-	10	1035	c.785C>T	c.(784-786)tCt>tTt	p.S262F	GDPD4_ENST00000315938.4_Missense_Mutation_p.S262F			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4			20					CTCGCAGGCAGATTCTGGCTG	0.448000																								0							SO:0001583	missense			ENST00000376217.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145636	0.06627	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.12465	2.68;2.68	4.73	-0.91	0.10511	.	0.896444	0.09863	N	0.745907	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	B	0.22983	0.078	B	0.17979	0.02	T	0.36456	-0.9747	10	0.40728	T	0.16	-1.7653	4.4757	0.11739	0.1736:0.0:0.3917:0.4347	.	262	Q6W3E5-2	.	F	262	ENSP00000365390:S262F;ENSP00000320815:S262F	ENSP00000320815:S262F	S	-	2	0	GDPD4	76647158	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.308000	0.08156	-0.061000	0.13110	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	1	0	0	63	712	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	61	698	0	148	2								-14.859230	1	1	121412	1	37	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.960000	0.740000	1.000000	1.000000	0.937578	0.960000	1	8.400000e-01	1
OVCH2	341277	broad.mit.edu	37	11	7721940	7721940	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7721940G>T	ENST00000534193.2	-	0	830				OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)			15					TGTTTCTCCAGCCTCGACCAC	0.517000																								0											ENST00000534193.2	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OVCH2-001	KNOWN	non_canonical_polymorphism|not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000383929.7	1	0	1	15	104	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.999025e-01	15	103	0	27	2								-19.999890	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.880000	1.000000	1.000000	0.993160	0.990000	1	9.900000e-01	1
INTS4	92105	broad.mit.edu	37	11	77639550	77639550	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77639550C>A	ENST00000534064.1	-	11	1243	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4		INTS4/GAB2(2)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		AGGGTGAAGACTGGGCCAACA	0.468000																								0							SO:0001583	missense			ENST00000534064.1	0	1	hg19	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992402	0.35131	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.42513	0.97;0.97	3.94	1.78	0.24846	Armadillo-like helical (1);Armadillo-type fold (1);	0.274188	0.37669	N	0.001990	T	0.33206	0.0855	L	0.44542	1.39	0.80722	D	1	P	0.40731	0.728	B	0.42959	0.403	T	0.03922	-1.0992	10	0.41790	T	0.15	-7.284	5.4601	0.16612	0.0:0.6191:0.1481:0.2328	.	403	Q96HW7	INT4_HUMAN	H	403;254;403	ENSP00000434466:Q403H;ENSP00000433644:Q403H	ENSP00000346913:Q254H	Q	-	3	2	INTS4	77317198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.863000	0.27913	0.284000	0.22305	0.471000	0.43371	CAG		TCGA-IB-7651-01A-11D-2154-08	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	0	0	0	21	81	0	21	1	9.945206e-01	9	27	0	21	2		0	0	0	0	0	2	1	9.925198e-01	7	27	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
INTS4	92105	broad.mit.edu	37	11	77705641	77705641	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77705641C>T	ENST00000534064.1	-	1	83	c.49G>A	c.(49-51)Gtt>Att	p.V17I	INTS4_ENST00000529807.1_Missense_Mutation_p.V17I|INTS4_ENST00000527522.1_Missense_Mutation_p.V17I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4		INTS4/GAB2(2)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		CTTACCTGAACCACTTTCGTG	0.577000																								0							SO:0001583	missense			ENST00000534064.1	0	1	hg19	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124834	0.56613	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	.	.	.	5.48	5.48	0.80851	.	0.134884	0.48767	D	0.000162	T	0.43456	0.1248	N	0.16743	0.435	0.80722	D	1	B	0.32620	0.378	B	0.32211	0.142	T	0.28202	-1.0051	9	0.16896	T	0.51	-21.5488	19.5509	0.95319	0.0:1.0:0.0:0.0	.	17	Q96HW7	INT4_HUMAN	I	17	.	ENSP00000407787:V17I	V	-	1	0	INTS4	77383289	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.894000	0.63206	2.852000	0.98041	0.643000	0.83706	GTT		TCGA-IB-7651-01A-11D-2154-08	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	0	0	0	11	601	0	123	1	1.385232e-01	2	31	0	123	2		0	0	0	0	0	2	1	9.981268e-01	10	587	0	118	2								-8.831477	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.220000	0.110000	1.000000	0.210000	0.258386	0.220000	0	1.600000e-01	3.100000e-01
USP35	57558	broad.mit.edu	37	11	77920696	77920696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77920696G>A	ENST00000529308.1	+	10	2056	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A330T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35			23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		CCTCTCTCTCGCCTTCCCTCC	0.622000																								0							SO:0001583	missense			ENST00000529308.1	1	1	hg19	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625284	0.87560	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000014	T	0.18635	0.0447	L	0.41356	1.27	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01105	-1.1450	10	0.87932	D	0	-28.2008	17.4436	0.87572	0.0:0.0:1.0:0.0	.	599;185	Q9P2H5;E7EWV7	UBP35_HUMAN;.	T	167;599;185;330	ENSP00000435468:A167T;ENSP00000431876:A599T;ENSP00000400825:A185T;ENSP00000434942:A330T	ENSP00000400825:A185T	A	+	1	0	USP35	77598344	1.000000	0.71417	0.164000	0.22755	0.950000	0.60333	9.647000	0.98478	2.338000	0.79540	0.461000	0.40582	GCC		TCGA-IB-7651-01A-11D-2154-08	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	1	0	0	29	650	0	127	0	2.037166e-01	1	18	0	127	2		0	0	0	0	0	2	1	1	29	631	0	125	2								-3.204599	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.510000	0.340000	1.000000	0.500000	0.535173	0.510000	0	4.200000e-01	6.200000e-01
USP35	57558	broad.mit.edu	37	11	77921647	77921647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77921647G>T	ENST00000529308.1	+	10	3007	c.2746G>T	c.(2746-2748)Gac>Tac	p.D916Y	USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D647Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35			23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		CTTCCCTAAGGACACAGCCTA	0.582000																								0							SO:0001583	missense			ENST00000529308.1	1	1	hg19	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614634	0.87359	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000007	T	0.55337	0.1914	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.976;1.0	T	0.55418	-0.8144	10	0.49607	T	0.09	-43.9285	18.2591	0.90028	0.0:0.0:1.0:0.0	.	916;502	Q9P2H5;E7EWV7	UBP35_HUMAN;.	Y	484;916;502;647	ENSP00000435468:D484Y;ENSP00000431876:D916Y;ENSP00000400825:D502Y;ENSP00000434942:D647Y	ENSP00000400825:D502Y	D	+	1	0	USP35	77599295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.411000	0.97342	2.539000	0.85634	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	1	0	1	159	601	0	142	1	9.407744e-01	3	17	0	142	2		0	0	0	0	0	2	1	1	159	586	0	139	2								-3.916525	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP35	57558	broad.mit.edu	37	11	77924851	77924851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77924851G>A	ENST00000529308.1	+	11	3310	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.V748I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35			23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		CCACAGACTGGTCTTCTAATG	0.587000																								0							SO:0001583	missense			ENST00000529308.1	1	1	hg19	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.683397	0.88542	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.17854	2.93;3.04;2.25;3.03	4.7	4.7	0.59300	.	0.000000	0.44902	D	0.000404	T	0.40619	0.1124	L	0.61218	1.895	0.47698	D	0.999495	D;D	0.69078	0.984;0.997	D;D	0.73708	0.967;0.981	T	0.31251	-0.9950	10	0.87932	D	0	-37.6217	17.842	0.88718	0.0:0.0:1.0:0.0	.	1017;603	Q9P2H5;E7EWV7	UBP35_HUMAN;.	I	585;1017;603;748	ENSP00000435468:V585I;ENSP00000431876:V1017I;ENSP00000400825:V603I;ENSP00000434942:V748I	ENSP00000400825:V603I	V	+	1	0	USP35	77602499	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.713000	0.74686	2.436000	0.82500	0.558000	0.71614	GTC		TCGA-IB-7651-01A-11D-2154-08	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	1	0	1	45	217	0	35	1	8.380199e-01	4	14	0	35	2		0	0	0	0	0	2	1	1	45	214	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAB2	9846	broad.mit.edu	37	11	77931441	77931441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77931441G>A	ENST00000361507.4	-	9	1896	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2		INTS4/GAB2(2)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		CTTCTTAGGGGCAGGACTGTT	0.582000																								0							SO:0001583	missense			ENST00000361507.4	1	1	hg19	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205475	0.58234	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.19806	2.12;2.12	5.61	5.61	0.85477	.	0.067531	0.64402	U	0.000018	T	0.40979	0.1139	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.18429	-1.0337	10	0.07325	T	0.83	-25.4457	20.0018	0.97417	0.0:0.0:1.0:0.0	.	604	Q9UQC2	GAB2_HUMAN	V	566;604	ENSP00000343959:A566V;ENSP00000354952:A604V	ENSP00000343959:A566V	A	-	2	0	GAB2	77609089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.793000	0.96121	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	0	0	1	67	292	0	89	1	9.998734e-01	16	44	0	89	2		0	0	0	0	0	2	1	1	65	285	0	88	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAB2	9846	broad.mit.edu	37	11	77937523	77937523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77937523G>A	ENST00000361507.4	-	4	1280	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2		INTS4/GAB2(2)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		CGGTGAAGTCGGCTGTTGTCC	0.542000																								0							SO:0001587	stop_gained			ENST00000361507.4	0	1	hg19	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678256	0.96764	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	.	.	.	5.21	4.28	0.50868	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3846	13.3867	0.60799	0.0:0.0:0.6566:0.3434	.	.	.	.	X	361;399	.	ENSP00000343959:R361X	R	-	1	2	GAB2	77615171	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.405000	0.59741	1.292000	0.44672	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	1	0	1	75	477	0	87	1	9.964999e-01	2	53	0	87	2		0	0	0	0	0	2	1	1	74	461	0	87	2								-3.075777	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OR5P2	120065	broad.mit.edu	37	11	7818353	7818353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7818353C>A	ENST00000329434.2	-	1	167	c.137G>T	c.(136-138)aGa>aTa	p.R46I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2			22					AGAAGAAATTCTGATAAGAAT	0.413000																								0							SO:0001583	missense			ENST00000329434.2	1	1	hg19	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	7.679	0.688518	0.14973	.	.	ENSG00000183303	ENST00000329434	T	0.02863	4.13	5.5	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.157917	0.45361	D	0.000368	T	0.02727	0.0082	L	0.33093	0.98	0.39969	D	0.974769	B	0.23854	0.092	B	0.24269	0.052	T	0.52034	-0.8629	10	0.30854	T	0.27	-18.3288	7.6182	0.28171	0.0:0.749:0.1654:0.0856	.	46	Q8WZ92	OR5P2_HUMAN	I	46	ENSP00000331823:R46I	ENSP00000331823:R46I	R	-	2	0	OR5P2	7774929	0.010000	0.17322	0.986000	0.45419	0.040000	0.13550	0.158000	0.16422	1.564000	0.49628	0.555000	0.69702	AGA		TCGA-IB-7651-01A-11D-2154-08	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	0	0	1	65	227	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	64	224	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NARS2	79731	broad.mit.edu	37	11	78277273	78277273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78277273G>A	ENST00000281038.5	-	4	793	c.418C>T	c.(418-420)Cga>Tga	p.R140*	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)			27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)			L-Asparagine(DB00174)	GGATATTGTCGCAGATACTCC	0.373000																								0							SO:0001587	stop_gained			ENST00000281038.5	0	1	hg19	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198350	0.79015	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.13	2.6	0.31112	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3496	11.5876	0.50927	0.0:0.0:0.3858:0.6142	.	.	.	.	X	140	.	ENSP00000281038:R140X	R	-	1	2	NARS2	77954921	1.000000	0.71417	0.998000	0.56505	0.209000	0.24338	1.833000	0.39161	0.898000	0.36418	-0.264000	0.10439	CGA		TCGA-IB-7651-01A-11D-2154-08	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	1	0	1	76	311	0	85	1	9.999063e-01	4	54	0	85	2		0	0	0	0	0	2	1	1	76	306	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5P3	120066	broad.mit.edu	37	11	7846775	7846775	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7846775T>G	ENST00000328375.1	-	1	744	c.745A>C	c.(745-747)Act>Cct	p.T249P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3			15					TAGAACAGAGTGACTGCAGTG	0.507000																								0							SO:0001583	missense			ENST00000328375.1	1	1	hg19	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483494	0.63962	.	.	ENSG00000182334	ENST00000328375	T	0.39997	1.05	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.73148	0.3550	H	0.95224	3.64	0.27285	N	0.958003	D	0.76494	0.999	D	0.77004	0.989	T	0.73059	-0.4102	10	0.72032	D	0.01	-24.1436	12.9161	0.58207	0.0:0.0:0.0:1.0	.	249	Q8WZ94	OR5P3_HUMAN	P	249	ENSP00000332068:T249P	ENSP00000332068:T249P	T	-	1	0	OR5P3	7803351	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.443000	0.21644	2.147000	0.66899	0.528000	0.53228	ACT		TCGA-IB-7651-01A-11D-2154-08	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	1	0	1	65	334	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	63	319	0	93	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A22	79751	broad.mit.edu	37	11	792041	792041	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:792041C>T	ENST00000320230.5	-	10	1327	c.846G>A	c.(844-846)tcG>tcA	p.S282S	SLC25A22_ENST00000531214.1_Silent_p.S282S|CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22			5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			TCAGGAAGGCCGAGGGGCCCT	0.697000													Colon(93;848 1468 3270 23355 49636)											0							SO:0001819	synonymous_variant			ENST00000320230.5	1	1	hg19	CCDS7715.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2	1	0	1	12	57	0	18	1	9.927014e-01	9	35	0	18	2		0	0	0	0	0	2	1	9.994080e-01	12	57	0	18	2								-19.997320	1	1	120476	2	35	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998435	0.990000	1	9.900000e-01	1
OR10A6	390093	broad.mit.edu	37	11	7950054	7950054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7950054G>A	ENST00000309838.2	-	1	155	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6			22					GGAGGCTCTGGTCTAGGGAGA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000309838.2	1	1	hg19	CCDS31420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	1	0	1	117	528	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1	114	521	0	146	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP10	338322	broad.mit.edu	37	11	7981244	7981244	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981244A>G	ENST00000328600.2	-	2	2076	c.1915T>C	c.(1915-1917)Tct>Cct	p.S639P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10			58					TTTCCAGTAGAAGCTTCCTTT	0.393000																								0							SO:0001583	missense			ENST00000328600.2	1	1	hg19	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	7.079	0.569889	0.13560	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	3.06	-0.651	0.11454	.	0.639490	0.12224	N	0.488049	T	0.64125	0.2570	L	0.29908	0.895	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.50215	-0.8854	10	0.41790	T	0.15	.	3.156	0.06504	0.5467:0.2216:0.2317:0.0	.	639	Q86W26	NAL10_HUMAN	P	639	ENSP00000327763:S639P	ENSP00000327763:S639P	S	-	1	0	NLRP10	7937820	0.006000	0.16342	0.000000	0.03702	0.048000	0.14542	0.503000	0.22610	-0.136000	0.11475	0.460000	0.39030	TCT		TCGA-IB-7651-01A-11D-2154-08	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	0	0	0	10	297	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.965199e-01	10	288	0	42	2								-3.811755	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.400000	0.200000	1.000000	0.380000	0.436328	0.400000	0	2.900000e-01	5.600000e-01
NLRP10	338322	broad.mit.edu	37	11	7982118	7982118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7982118G>A	ENST00000328600.2	-	2	1202	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10			58					ACGCTTTGTAGAGAATGTCAT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000328600.2	1	1	hg19	CCDS7784.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	1	0	0	24	389	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	9.999996e-01	24	380	0	90	2								-3.017715	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.690000	0.450000	1.000000	0.680000	0.713389	0.690000	0	5.600000e-01	8.600000e-01
TUB	7275	broad.mit.edu	37	11	8117116	8117116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8117116G>A	ENST00000299506.2	+	5	618	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	TUB_ENST00000305253.4_Missense_Mutation_p.G212S|TUB_ENST00000534099.1_Missense_Mutation_p.G163S	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor			26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)			TCTGACTGTGGGCCAGTCAGA	0.662000																								0							SO:0001583	missense			ENST00000299506.2	0	1	hg19	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149877	0.78001	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86030	-2.0;-2.06;-2.0	5.38	5.38	0.77491	Tubby, N-terminal (1);	0.048878	0.85682	D	0.000000	D	0.87313	0.6146	L	0.28192	0.835	0.80722	D	1	D;P;D	0.89917	0.999;0.866;1.0	D;B;D	0.77004	0.922;0.252;0.989	D	0.85000	0.0899	10	0.24483	T	0.36	0.051	17.8888	0.88865	0.0:0.0:1.0:0.0	.	163;157;212	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	S	163;212;157	ENSP00000434400:G163S;ENSP00000305426:G212S;ENSP00000299506:G157S	ENSP00000299506:G157S	G	+	1	0	TUB	8073692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.962000	0.87912	2.531000	0.85337	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	0	0	0	5	165	0	30	0	1.286619e-02	0	5	0	30	2		0	0	0	0	0	2	1	9.355294e-01	5	162	0	30	2								-7.369501	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.380000	0.140000	1.000000	0.340000	0.423250	0.380000	0	2.400000e-01	5.900000e-01
TUB	7275	broad.mit.edu	37	11	8118259	8118259	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8118259A>C	ENST00000299506.2	+	6	742	c.593A>C	c.(592-594)gAg>gCg	p.E198A	TUB_ENST00000305253.4_Missense_Mutation_p.E253A|TUB_ENST00000534099.1_Missense_Mutation_p.E204A	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor			26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)			AGCTTTGACGAGGATGAGGAG	0.542000																								0							SO:0001583	missense			ENST00000299506.2	1	1	hg19	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980035	0.53827	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86769	-2.15;-2.17;-2.14	4.77	4.77	0.60923	.	0.098549	0.64402	D	0.000002	D	0.84759	0.5543	L	0.59436	1.845	0.80722	D	1	P;P;P	0.42941	0.74;0.524;0.794	B;B;B	0.39805	0.214;0.095;0.31	D	0.84937	0.0863	10	0.39692	T	0.17	-6.0846	14.5629	0.68153	1.0:0.0:0.0:0.0	.	204;198;253	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	A	204;253;198	ENSP00000434400:E204A;ENSP00000305426:E253A;ENSP00000299506:E198A	ENSP00000299506:E198A	E	+	2	0	TUB	8074835	1.000000	0.71417	0.987000	0.45799	0.671000	0.39405	8.654000	0.91092	1.906000	0.55180	0.402000	0.26972	GAG		TCGA-IB-7651-01A-11D-2154-08	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	1	0	1	60	275	0	58	0	4.385030e-01	0	8	0	58	2		0	0	0	0	0	2	1	1	59	269	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPLP2	6181	broad.mit.edu	37	11	812603	812603	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:812603G>T	ENST00000321153.4	+	4	635	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	RPLP2_ENST00000532004.1_3'UTR|SNORA52_ENST00000362915.1_RNA|RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2			1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)			AGGCTCTGCAGCCCCTGCTGC	0.622000																								0							SO:0001583	missense			ENST00000321153.4	1	1	hg19	CCDS7717.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.733433|2.733433	0.48939|0.48939	.|.	.|.	ENSG00000177600|ENSG00000177600	ENST00000321153;ENST00000530797|ENST00000530398	.|.	.|.	.|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.258634|.	0.36854|.	N|.	0.002380|.	T|T	0.73860|0.73860	0.3641|0.3641	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	P|.	0.49447|.	0.924|.	P|.	0.47673|.	0.554|.	T|T	0.73789|0.73789	-0.3872|-0.3872	9|5	0.51188|.	T|.	0.08|.	-13.2689|-13.2689	17.898|17.898	0.88895|0.88895	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81|.	P05387|.	RLA2_HUMAN|.	S|H	81|57	.|.	ENSP00000322419:A81S|.	A|Q	+|+	1|3	0|2	RPLP2|RPLP2	802603|802603	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.191000|0.191000	0.23601|0.23601	6.804000|6.804000	0.75186|0.75186	2.394000|2.394000	0.81467|0.81467	0.561000|0.561000	0.74099|0.74099	GCC|CAG		TCGA-IB-7651-01A-11D-2154-08	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257115.2	0	0	0	7	176	0	40	1	1	430	7294	0	40	2		0	0	0	0	0	2	1	9.796805e-01	7	172	0	39	2								-9.462666	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.480000	0.210000	1.000000	0.440000	0.516100	0.480000	0	3.200000e-01	7.000000e-01
RIC3	79608	broad.mit.edu	37	11	8159877	8159877	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8159877T>C	ENST00000309737.6	-	3	368	c.369A>G	c.(367-369)acA>acG	p.T123T	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Silent_p.T123T|RIC3_ENST00000425599.2_Silent_p.T123T|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Silent_p.T74T			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone			17					CCTCTGCAGTTGTTTTCCCCT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000309737.6	0	1	hg19	CCDS55742.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	0	0	0	15	996	0	189	0	2.555412e-03	0	5	0	189	2		0	0	0	0	0	2	1	9.998366e-01	14	968	0	186	2								-9.678929	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.170000	0.100000	1.000000	0.180000	0.216651	0.170000	0	1.300000e-01	2.400000e-01
FAM181B	220382	broad.mit.edu	37	11	82444612	82444612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444612C>T	ENST00000329203.3	-	1	294	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B			4					CCTCCTTCGGCTCCCGACAGC	0.682000																								0							SO:0001583	missense			ENST00000329203.3	0	1	hg19	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	6.723	0.502213	0.12822	.	.	ENSG00000182103	ENST00000329203	T	0.31510	1.49	3.79	1.59	0.23543	.	1.269860	0.06393	U	0.717378	T	0.14917	0.0360	N	0.08118	0	0.25154	N	0.990404	B	0.14438	0.01	B	0.14578	0.011	T	0.31861	-0.9928	9	.	.	.	.	4.8862	0.13704	0.2079:0.6558:0.0:0.1363	.	54	A6NEQ2	F181B_HUMAN	T	54	ENSP00000365295:A54T	.	A	-	1	0	FAM181B	82122260	0.065000	0.20965	0.221000	0.23827	0.029000	0.11900	0.237000	0.17985	0.143000	0.18926	0.455000	0.32223	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	1	0	0	7	101	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.804924e-01	7	99	0	10	2								-11.209170	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.800000	0.360000	1.000000	1.000000	0.782024	0.800000	0	5.500000e-01	1
FAM181B	220382	broad.mit.edu	37	11	82444633	82444633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444633C>T	ENST00000329203.3	-	1	273	c.139G>A	c.(139-141)Gcg>Acg	p.A47T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B			4					AGCGCACCCGCCGGAGCCCCG	0.692000																								0							SO:0001583	missense			ENST00000329203.3	0	1	hg19	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803751	0.50315	.	.	ENSG00000182103	ENST00000329203	T	0.32272	1.46	3.51	3.51	0.40186	.	0.860133	0.09314	U	0.819132	T	0.24005	0.0581	N	0.22421	0.69	0.28960	N	0.889904	P	0.42518	0.782	B	0.40256	0.324	T	0.07597	-1.0764	9	.	.	.	.	13.3973	0.60861	0.0:1.0:0.0:0.0	.	47	A6NEQ2	F181B_HUMAN	T	47	ENSP00000365295:A47T	.	A	-	1	0	FAM181B	82122281	0.876000	0.30132	0.984000	0.44739	0.022000	0.10575	1.156000	0.31712	1.800000	0.52685	0.455000	0.32223	GCG		TCGA-IB-7651-01A-11D-2154-08	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	1	0	0	19	86	0	8	0	0	0	1	0	8	2		0	0	0	0	0	2	1	9.999931e-01	18	83	0	8	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999874	0.990000	1	9.900000e-01	1
LMO1	4004	broad.mit.edu	37	11	8248572	8248572	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8248572C>T	ENST00000335790.3	-	3	810	c.315G>A	c.(313-315)cgG>cgA	p.R105R	LMO1_ENST00000534484.1_Silent_p.R94R|LMO1_ENST00000428101.2_Silent_p.R104R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)			5					ACACGTTGTCCCGGGCCCGCA	0.632000			T, A	TRD@	T-ALL, neuroblastoma	neuroblastoma								yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	0							SO:0001819	synonymous_variant			ENST00000335790.3	1	1	hg19	CCDS44534.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	1	0	1	32	172	0	30	0	7.008123e-02	0	3	0	30	2		0	0	0	0	0	2	1	1	32	166	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
PRCP	5547	broad.mit.edu	37	11	82561517	82561517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82561517C>A	ENST00000313010.3	-	4	636	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)			17					AGAGCTTGTTCTGATGTCAGG	0.408000																								0							SO:0001587	stop_gained			ENST00000313010.3	0	1	hg19	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176326	0.78564	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6616	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	X	148;169;43;43;43;43;43;43;107;43;94;43	.	.	E	-	1	0	PRCP	82239165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.801000	0.96364	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	1	0	1	104	474	0	102	0	1	0	302	0	102	2		0	0	0	0	0	2	1	1	102	465	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C11orf82	0	broad.mit.edu	37	11	82639965	82639965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82639965C>T	ENST00000533655.1	+	4	472	c.260C>T	c.(259-261)gCc>gTc	p.A87V	C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000533750.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN				33					GGTCTTACTGCCACTGGTTTG	0.313000																								0							SO:0001583	missense			ENST00000533655.1	1	1	hg19	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431538	0.83776	.	.	ENSG00000165490	ENST00000524921;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000525388;ENST00000528262	T;T	0.53857	0.6;0.6	5.75	4.83	0.62350	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.111999	0.64402	D	0.000011	T	0.73241	0.3562	M	0.81239	2.535	0.41499	D	0.988277	D;D	0.89917	0.983;1.0	P;D	0.68192	0.808;0.956	T	0.77148	-0.2694	9	.	.	.	.	16.8517	0.85996	0.0:0.8715:0.1285:0.0	.	87;87	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	V	87;87;87;87;148;87;87	ENSP00000414687:A87V;ENSP00000435421:A87V	.	A	+	2	0	C11orf82	82317613	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.673000	0.68109	1.406000	0.46857	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1	1	0	1	64	318	0	80	0	2.020887e-01	1	4	0	80	2		0	0	0	0	0	2	1	1	61	312	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCF11	51585	broad.mit.edu	37	11	82880369	82880369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82880369C>T	ENST00000298281.4	+	8	3444	c.2992C>T	c.(2992-2994)Cct>Tct	p.P998S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit			33					GTTTGAAGGCCCTTTAGTCCA	0.512000																								0							SO:0001583	missense			ENST00000298281.4	1	1	hg19	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856840	0.32791	.	.	ENSG00000165494	ENST00000298281	T	0.34667	1.35	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000015	T	0.50650	0.1628	L	0.50333	1.59	0.50632	D	0.999881	D	0.62365	0.991	P	0.55667	0.781	T	0.26538	-1.0100	9	.	.	.	-10.5135	20.4008	0.98991	0.0:1.0:0.0:0.0	.	998	O94913	PCF11_HUMAN	S	998	ENSP00000298281:P998S	.	P	+	1	0	PCF11	82558017	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.732000	0.62029	2.826000	0.97356	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	1	0	1	47	192	0	37	1	9.999048e-01	14	46	0	37	2		0	0	0	0	0	2	1	1	45	188	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC90B	60492	broad.mit.edu	37	11	82976975	82976975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82976975T>C	ENST00000529689.1	-	8	1075	c.641A>G	c.(640-642)gAc>gGc	p.D214G	CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A|CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G|CCDC90B_ENST00000525504.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B			10		Acute lymphoblastic leukemia(157;0.103)			AATTTCAGCGTCAATTTTATT	0.338000																								0							SO:0001583	missense			ENST00000529689.1	1	1	hg19	CCDS8266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.876845|4.876845	0.91664|0.91664	.|.	.|.	ENSG00000137500|ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611|ENST00000529073	T;T;T;T|T	0.61627|0.32023	0.09;0.09;0.09;0.09|1.47	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.087407|.	0.85682|.	D|.	0.000000|.	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.88105|0.88105	2.93|2.93	0.32384|0.32384	N|N	0.554177|0.554177	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.73285|0.73285	-0.4031|-0.4031	9|6	.|.	.|.	.|.	-12.0863|-12.0863	15.933|15.933	0.79679|0.79679	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	205;214|.	Q9GZT6-2;Q9GZT6|.	.;CC90B_HUMAN|.	G|A	214;205;113;113|203	ENSP00000434724:D214G;ENSP00000390990:D205G;ENSP00000431424:D113G;ENSP00000431345:D113G|ENSP00000431523:T203A	.|.	D|T	-|-	2|1	0|0	CCDC90B|CCDC90B	82654623|82654623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.044000|7.044000	0.76578|0.76578	2.155000|2.155000	0.67459|0.67459	0.460000|0.460000	0.39030|0.39030	GAC|ACG		TCGA-IB-7651-01A-11D-2154-08	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	1	0	1	60	302	0	62	1	1	50	157	0	62	2		0	0	0	0	0	2	1	1	59	299	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD151	977	broad.mit.edu	37	11	837331	837331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:837331G>A	ENST00000397420.3	+	6	682	c.433G>A	c.(433-435)Gct>Act	p.A145T	CD151_ENST00000397421.1_Missense_Mutation_p.A145T|CD151_ENST00000528011.1_Missense_Mutation_p.A145T|CD151_ENST00000322008.4_Missense_Mutation_p.A145T			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)			3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)			TGTGACCAGCGCTGTGGACCA	0.667000													Esophageal Squamous(14;501 559 15826 37823 38305)											0							SO:0001583	missense			ENST00000397420.3	1	1	hg19	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782579	0.70222	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000526693;ENST00000524748;ENST00000527341;ENST00000530320;ENST00000528011	T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	4.41	4.41	0.53225	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	D	0.86569	0.1846	10	0.51188	T	0.08	.	17.1864	0.86868	0.0:0.0:1.0:0.0	.	145	P48509	CD151_HUMAN	T	145;145;145;120;145;145;145;145;145	ENSP00000380565:A145T;ENSP00000324101:A145T;ENSP00000380566:A145T;ENSP00000432258:A120T;ENSP00000435054:A145T;ENSP00000431403:A145T;ENSP00000436591:A145T;ENSP00000433787:A145T;ENSP00000432990:A145T	ENSP00000324101:A145T	A	+	1	0	CD151	827331	1.000000	0.71417	0.314000	0.25224	0.027000	0.11550	7.288000	0.78691	2.290000	0.77057	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	1	0	1	67	263	0	45	1	1	659	1550	0	45	2		0	0	0	0	0	2	1	1	65	258	0	45	2								-20.000000	1	1	121160	10	40	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK33	65975	broad.mit.edu	37	11	8414220	8414220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8414220T>G	ENST00000447869.1	-	12	2300	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	STK33_ENST00000534493.1_Missense_Mutation_p.K420T|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000358872.3_Missense_Mutation_p.K274T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33			23					AAAGTTGTCCTTACTGGTTGC	0.393000																								0							SO:0001583	missense			ENST00000447869.1	1	1	hg19	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357246	0.61293	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.71817	-0.55;-0.55;-0.55;-0.6;2.02;2.02;-0.54	5.8	2.13	0.27403	.	0.169760	0.33572	N	0.004776	T	0.48003	0.1476	N	0.22421	0.69	0.22354	N	0.99918	P	0.43477	0.808	B	0.39706	0.307	T	0.33574	-0.9863	10	0.16896	T	0.51	.	5.0636	0.14570	0.3919:0.0:0.1627:0.4453	.	461	Q9BYT3	STK33_HUMAN	T	461;461;461;274;395;150;420	ENSP00000416750:K461T;ENSP00000320754:K461T;ENSP00000379905:K461T;ENSP00000351743:K274T;ENSP00000379906:K395T;ENSP00000415688:K150T;ENSP00000436418:K420T	ENSP00000320754:K461T	K	-	2	0	STK33	8370796	0.665000	0.27466	0.997000	0.53966	0.263000	0.26337	0.601000	0.24119	0.986000	0.38683	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	1	0	1	93	317	0	90	1	3.214077e-01	2	3	0	90	2		0	0	0	0	0	2	1	1	91	310	0	90	2								-20.000000	1	0	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLG2	1740	broad.mit.edu	37	11	84245751	84245751	+	Silent	SNP	G	G	A	rs149841754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84245751G>A	ENST00000532653.1	-	2	368	c.66C>T	c.(64-66)gaC>gaT	p.D22D	DLG2_ENST00000398309.2_Silent_p.D22D|DLG2_ENST00000543673.1_Silent_p.D127D|DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000376104.2_Silent_p.D127D			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)			71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)			CATGTGGAGCGTCCTCATCTT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000532653.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	1	0	1	142	602	0	130	0	3.695210e-02	0	2	0	130	2		0	0	0	0	0	2	1	1	140	591	0	126	2								-20.000000	1	1	120836	11	45	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLG2	1740	broad.mit.edu	37	11	84634141	84634141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84634141C>T	ENST00000532653.1	-	1	324	c.22G>A	c.(22-24)Gca>Aca	p.A8T	DLG2_ENST00000398309.2_Missense_Mutation_p.A8T|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Missense_Mutation_p.A8T|DLG2_ENST00000376104.2_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)			71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)			GTCCGGAGTGCACAGTAACAT	0.493000																								0							SO:0001583	missense			ENST00000532653.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.68	2.308491	0.40895	.	.	ENSG00000150672	ENST00000398309;ENST00000524982;ENST00000532653	T;T;T	0.12984	2.68;2.68;2.63	5.95	5.95	0.96441	.	.	.	.	.	T	0.20129	0.0484	N	0.14661	0.345	0.80722	D	1	P;B;B	0.49447	0.924;0.032;0.019	P;B;B	0.57776	0.827;0.017;0.028	T	0.05419	-1.0886	8	.	.	.	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	8;8;8	B7Z2T4;E9PN83;Q15700	.;.;DLG2_HUMAN	T	8	ENSP00000381355:A8T;ENSP00000432894:A8T;ENSP00000435849:A8T	.	A	-	1	0	DLG2	84311789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.821000	0.97095	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	1	0	1	40	218	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	40	217	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
CREBZF	58487	broad.mit.edu	37	11	85375468	85375468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85375468G>A	ENST00000527447.1	-	1	678	c.452C>T	c.(451-453)gCc>gTc	p.A151V	CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor			9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)			AGCAGCCGCGGCCTCATCGTC	0.647000													NSCLC(172;674 2044 9050 18334 41735)											0							SO:0001583	missense			ENST00000527447.1	1	1	hg19	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349764	0.61183	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.56	4.56	0.56223	.	0.236704	0.24345	N	0.039330	T	0.24967	0.0606	N	0.14661	0.345	0.26011	N	0.98199	B	0.23377	0.084	B	0.18871	0.023	T	0.09271	-1.0682	8	.	.	.	-25.8693	12.725	0.57166	0.0:0.0:1.0:0.0	.	151	Q9NS37	ZHANG_HUMAN	V	69;151	.	.	A	-	2	0	CREBZF	85053116	0.998000	0.40836	0.995000	0.50966	0.699000	0.40488	1.618000	0.36954	2.366000	0.80165	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	0	0	1	80	267	0	66	1	9.999999e-01	27	52	0	66	2		0	0	0	0	0	2	1	1	80	264	0	66	2								-4.449850	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC89	220388	broad.mit.edu	37	11	85397127	85397127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85397127G>A	ENST00000316398.3	-	1	193	c.47C>T	c.(46-48)aCc>aTc	p.T16I		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89			15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)			AGGGGGCGGGGTGTCCATCCT	0.527000																								0							SO:0001583	missense			ENST00000316398.3	1	1	hg19	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796267	0.31777	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.61	3.75	0.43078	.	0.411501	0.17492	N	0.172313	T	0.43831	0.1265	L	0.57536	1.79	0.22552	N	0.998991	B	0.15473	0.013	B	0.19148	0.024	T	0.30208	-0.9986	8	.	.	.	-2.6236	12.1409	0.53996	0.1409:0.0:0.8591:0.0	.	16	Q8N998	CCD89_HUMAN	I	16	.	.	T	-	2	0	CCDC89	85074775	0.015000	0.18098	0.566000	0.28421	0.177000	0.22998	1.749000	0.38319	0.736000	0.32559	-0.136000	0.14681	ACC		TCGA-IB-7651-01A-11D-2154-08	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	0	0	0	16	476	0	83	0	1.251380e-03	0	2	0	83	2		0	0	0	0	0	2	1	9.999293e-01	16	471	0	82	2								-14.626140	1	1	121412	1	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.390000	0.230000	1.000000	0.380000	0.425336	0.390000	0	3.000000e-01	5.100000e-01
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85445199C>T	ENST00000528231.1	-	6	1447	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000316356.4_Silent_p.S391S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2			52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)			GATGAAAAAGCGAAGGCTTTC	0.398000																								0							SO:0001819	synonymous_variant			ENST00000528231.1	1	1	hg19	CCDS53688.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	1	0	1	112	455	0	93	1	9.975998e-01	2	37	0	93	2		0	0	0	0	0	2	1	1	111	450	0	93	2								-3.584946	1	1	121412	114	51	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PICALM	8301	broad.mit.edu	37	11	85685823	85685823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85685823C>T	ENST00000393346.3	-	19	2020	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000526033.1_Silent_p.T617T|PICALM_ENST00000528398.1_Silent_p.T523T|PICALM_ENST00000356360.5_Silent_p.T604T			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein			19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)			AGGTTGGTTGCGTCATTACAG	0.403000			T	MLLT10, MLL	TALL, AML, 										Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0							SO:0001819	synonymous_variant			ENST00000393346.3	1	1	hg19	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.172|5.172	0.217324|0.217324	0.09810|0.09810	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961|ENST00000530692	.|.	.|.	.|.	5.87|5.87	2.28|2.28	0.28536|0.28536	.|.	.|.	.|.	.|.	.|.	T|T	0.55065|0.55065	0.1897|0.1897	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44065|0.44065	-0.9352|-0.9352	4|4	.|.	.|.	.|.	-10.1482|-10.1482	7.1284|7.1284	0.25486|0.25486	0.0:0.1316:0.2245:0.6439|0.0:0.1316:0.2245:0.6439	.|.	.|.	.|.	.|.	T|H	280;106;236|161	.|.	.|.	A|R	-|-	1|2	0|0	PICALM|PICALM	85363471|85363471	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.547000|0.547000	0.35210|0.35210	0.264000|0.264000	0.18497|0.18497	0.197000|0.197000	0.20387|0.20387	-2.283000|-2.283000	0.00269|0.00269	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	0	0	0	17	460	0	110	1	9.999998e-01	33	770	0	110	2		0	0	0	0	0	2	1	9.999590e-01	16	450	0	110	2								-3.032841	1	1	121412	2	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.430000	0.250000	1.000000	0.410000	0.460835	0.430000	0	3.300000e-01	5.600000e-01
PICALM	8301	broad.mit.edu	37	11	85733411	85733411	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85733411C>A	ENST00000393346.3	-	4	599	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	PICALM_ENST00000532317.1_Splice_Site_p.G151W|PICALM_ENST00000526033.1_Splice_Site_p.G151W|PICALM_ENST00000528398.1_Splice_Site_p.G100W|PICALM_ENST00000528411.1_5'Flank|PICALM_ENST00000356360.5_Splice_Site_p.G151W			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein			19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)			TTAACTCACCCTCTCTTCACT	0.279000			T	MLLT10, MLL	TALL, AML, 										Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0							SO:0001630	splice_region_variant			ENST00000393346.3	1	0	hg19	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686847	0.88639	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.34	5.34	0.76211	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.72184	-0.4367	9	.	.	.	-9.3463	19.1015	0.93276	0.0:1.0:0.0:0.0	.	100;151;151;151	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	W	151;151;151;151;100;151;117;100;117	ENSP00000436958:G151W;ENSP00000433846:G151W;ENSP00000377015:G151W;ENSP00000434884:G100W;ENSP00000348718:G151W;ENSP00000433303:G117W;ENSP00000436508:G100W;ENSP00000431545:G117W	.	G	-	1	0	PICALM	85411059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.504000	0.84457	0.461000	0.40582	GGG		TCGA-IB-7651-01A-11D-2154-08	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	1	0	1	73	276	0	84	1	1	86	433	0	84	2		0	0	0	0	0	2	1	1	73	264	0	84	2								-3.216624	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EED	8726	broad.mit.edu	37	11	85967452	85967452	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85967452T>C	ENST00000263360.6	+	5	1136	c.450T>C	c.(448-450)tgT>tgC	p.C150C	EED_ENST00000528180.1_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C|EED_ENST00000351625.6_Silent_p.C150C	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development			21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)			TTTACACTTGTGCATGGACCT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000263360.6	1	1	hg19	CCDS8273.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	1	0	1	70	246	0	52	1	1	32	76	0	52	2		0	0	0	0	0	2	1	1	70	242	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EED	8726	broad.mit.edu	37	11	85988058	85988058	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988058A>C	ENST00000263360.6	+	10	1689	c.1003A>C	c.(1003-1005)Aag>Cag	p.K335Q	EED_ENST00000527888.1_5'UTR|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q|EED_ENST00000351625.6_Missense_Mutation_p.K360Q	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development			21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)			GAAACCTGGCAAGATGGAAGA	0.353000																								0							SO:0001583	missense			ENST00000263360.6	1	1	hg19	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294009	0.40594	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564	T;T;T;T	0.53206	0.63;1.57;0.63;0.63	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050105	0.85682	D	0.000000	T	0.29850	0.0746	N	0.11364	0.135	0.80722	D	1	B;B;B;B	0.23735	0.0;0.09;0.006;0.0	B;B;B;B	0.19391	0.0;0.015;0.025;0.0	T	0.12528	-1.0544	9	.	.	.	-15.9168	16.0343	0.80612	1.0:0.0:0.0:0.0	.	335;255;360;335	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	Q	335;255;360;335;84	ENSP00000263360:K335Q;ENSP00000431778:K255Q;ENSP00000338186:K360Q;ENSP00000315587:K335Q	.	K	+	1	0	EED	85665706	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.875000	0.75551	2.198000	0.70561	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	0	0	0	13	279	0	48	1	9.408633e-01	7	99	0	48	2		0	0	0	0	0	2	1	9.995232e-01	12	276	0	48	2								-4.534567	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.540000	0.300000	1.000000	0.520000	0.570145	0.540000	0	4.000000e-01	7.200000e-01
EED	8726	broad.mit.edu	37	11	85988142	85988142	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988142A>G	ENST00000263360.6	+	10	1773	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	EED_ENST00000527888.1_Missense_Mutation_p.I28V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000327320.4_Missense_Mutation_p.I363V|EED_ENST00000351625.6_Missense_Mutation_p.I388V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development			21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)			CCAGTGTGACATTTGGTACAT	0.358000																								0							SO:0001583	missense			ENST00000263360.6	1	1	hg19	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.856552	0.91355	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564;ENST00000524673;ENST00000527888	T;T;T;T;T	0.64618	1.71;1.62;1.71;1.71;-0.11	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	L	0.56280	1.765	0.80722	D	1	P;D;P;B	0.59357	0.684;0.985;0.867;0.226	P;D;P;B	0.67548	0.525;0.952;0.664;0.19	T	0.73363	-0.4006	9	.	.	.	-14.2414	16.0343	0.80612	1.0:0.0:0.0:0.0	.	363;283;388;363	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	V	363;283;388;363;112;28;28	ENSP00000263360:I363V;ENSP00000431778:I283V;ENSP00000338186:I388V;ENSP00000315587:I363V;ENSP00000437318:I28V	.	I	+	1	0	EED	85665790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.198000	0.70561	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	1	0	1	102	445	0	103	1	1	20	88	0	103	2		0	0	0	0	0	2	1	1	98	439	0	103	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSPAN4	7106	broad.mit.edu	37	11	862729	862729	+	Nonsense_Mutation	SNP	C	C	A	rs144548229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:862729C>A	ENST00000397404.1	+	4	502	c.243C>A	c.(241-243)tgC>tgA	p.C81*	TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|RP11-1391J7.1_ENST00000506172.2_RNA	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4			3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)			AGAACAAGTGCCTCCTGCTCA	0.672000																								0							SO:0001587	stop_gained			ENST00000397404.1	0	1	hg19	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803300	0.90623	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000530404;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	.	.	.	3.67	2.76	0.32466	.	0.314743	0.34906	N	0.003587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9629	0.47395	0.0:0.9074:0.0:0.0926	.	.	.	.	X	81;81;17;81;81;17;81;81;17;81;81;100;81	.	ENSP00000324304:C81X	C	+	3	2	TSPAN4	852729	0.989000	0.36119	0.999000	0.59377	0.970000	0.65996	0.340000	0.19892	0.765000	0.33221	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2	1	0	1	38	168	0	48	1	1	5	323	0	48	2		0	0	0	0	0	2	1	1	37	166	0	48	2								-19.998690	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS23	11098	broad.mit.edu	37	11	86518792	86518792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86518792G>A	ENST00000280258.5	+	2	532	c.107G>A	c.(106-108)cGc>cAc	p.R36H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23			18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			CCTGCATACCGCCTCCCTGTC	0.542000																								0							SO:0001583	missense			ENST00000280258.5	1	1	hg19	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420746	0.62622	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.95	0.45737	.	0.057555	0.64402	D	0.000002	T	0.45617	0.1351	L	0.44542	1.39	0.42263	D	0.992025	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.29336	-1.0015	8	.	.	.	-11.6981	9.5078	0.39058	0.2122:0.0:0.7878:0.0	.	36;36	B4E2J3;O95084	.;PRS23_HUMAN	H	36	.	.	R	+	2	0	PRSS23	86196440	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.761000	0.47589	0.817000	0.34445	-0.136000	0.14681	CGC		TCGA-IB-7651-01A-11D-2154-08	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	1	0	1	65	464	0	76	1	1	17	438	0	76	2		0	0	0	0	0	2	1	1	62	453	0	76	2								-3.221884	1	1	121412	2	35	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
PRSS23	11098	broad.mit.edu	37	11	86519307	86519307	+	Missense_Mutation	SNP	G	G	A	rs149020963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519307G>A	ENST00000280258.5	+	2	1047	c.622G>A	c.(622-624)Gac>Aac	p.D208N	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23			18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			AGGGGCCAACGACTCCACTTC	0.517000																								0							SO:0001583	missense			ENST00000280258.5	1	1	hg19	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	7.306	0.614015	0.14066	0.0	1.16E-4	ENSG00000150687	ENST00000280258;ENST00000441050	D;D	0.88664	-2.41;-2.41	6.06	-10.7	0.00240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	1.727610	0.02331	N	0.073976	T	0.78259	0.4255	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62215	-0.6901	9	.	.	.	-0.1783	8.0381	0.30504	0.6445:0.1543:0.1236:0.0776	.	176;208	B4E2J3;O95084	.;PRS23_HUMAN	N	208;176	ENSP00000280258:D208N;ENSP00000393015:D176N	.	D	+	1	0	PRSS23	86196955	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-0.662000	0.05305	-2.173000	0.00773	-0.140000	0.14226	GAC		TCGA-IB-7651-01A-11D-2154-08	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	1	0	1	37	158	0	51	1	1	41	379	0	51	2		0	0	0	0	0	2	1	1	37	157	0	50	2								-20.000000	1	1	121412	8	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS23	11098	broad.mit.edu	37	11	86519669	86519669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519669G>T	ENST00000280258.5	+	2	1409	c.984G>T	c.(982-984)caG>caT	p.Q328H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23			18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			GGAAGAGACAGCAGCAGAAGT	0.527000																								0							SO:0001583	missense			ENST00000280258.5	1	1	hg19	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.089988	0.36855	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	.	.	.	5.74	3.82	0.43975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.695759	0.15293	N	0.270060	T	0.33847	0.0877	N	0.08118	0	0.34112	D	0.663066	P;P	0.37612	0.602;0.602	P;B	0.45377	0.478;0.353	T	0.41627	-0.9498	8	.	.	.	-0.5852	10.6054	0.45392	0.0725:0.1339:0.7936:0.0	.	296;328	B4E2J3;O95084	.;PRS23_HUMAN	H	328;296	.	.	Q	+	3	2	PRSS23	86197317	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	2.917000	0.48821	0.727000	0.32360	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	0	0	0	13	406	0	79	1	9.999879e-01	6	672	0	79	2		0	0	0	0	0	2	1	9.995041e-01	13	400	0	79	2								-12.410810	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.370000	0.200000	1.000000	0.370000	0.411657	0.370000	0	2.800000e-01	5.100000e-01
FZD4	8322	broad.mit.edu	37	11	86663296	86663296	+	Missense_Mutation	SNP	G	G	T	rs61735303	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86663296G>T	ENST00000531380.1	-	2	807	c.502C>A	c.(502-504)Ccc>Acc	p.P168T	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4			21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			TGAGGTAAGGGCACCTCTTCA	0.517000																								0							SO:0001583	missense			ENST00000531380.1	1	0	hg19	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591259	0.46214	.	.	ENSG00000174804	ENST00000531380	T	0.81078	-1.45	5.82	5.82	0.92795	.	0.201805	0.52532	D	0.000070	T	0.64649	0.2617	N	0.08118	0	0.80722	D	1	B	0.29716	0.255	B	0.21360	0.034	T	0.62086	-0.6928	9	.	.	.	.	20.1001	0.97870	0.0:0.0:1.0:0.0	.	168	Q9ULV1	FZD4_HUMAN	T	168	ENSP00000434034:P168T	.	P	-	1	0	FZD4	86340944	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.399000	0.73248	2.760000	0.94817	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	1	0	0	103	375	0	111	0	9.950597e-01	0	32	0	111	2		0	0	0	0	0	2	1	1	102	368	0	111	2								-1.586859	0	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM135	65084	broad.mit.edu	37	11	87013442	87013442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87013442G>A	ENST00000305494.5	+	8	695	c.656G>A	c.(655-657)aGa>aAa	p.R219K	TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K|TMEM135_ENST00000340353.7_Missense_Mutation_p.R197K|TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135			17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			AAACCCGGAAGAATGAATATG	0.368000																								0							SO:0001583	missense			ENST00000305494.5	1	1	hg19	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715959	0.15306	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.43294	0.96;0.96;0.95;0.96	5.55	2.51	0.30379	.	0.651371	0.16326	N	0.219326	T	0.31857	0.0810	L	0.47716	1.5	0.27324	N	0.956958	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20907	-1.0261	9	.	.	.	-20.9088	7.203	0.25891	0.1573:0.267:0.5758:0.0	.	197;219	Q86UB9-2;Q86UB9	.;TM135_HUMAN	K	197;56;90;219;80	ENSP00000345513:R197K;ENSP00000436179:R90K;ENSP00000306344:R219K;ENSP00000439525:R80K	.	R	+	2	0	TMEM135	86691090	1.000000	0.71417	0.503000	0.27626	0.079000	0.17450	0.990000	0.29642	0.319000	0.23209	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	1	0	1	116	414	0	89	1	9.879106e-01	7	20	0	89	2		0	0	0	0	0	2	1	1	115	401	0	89	2								-4.196873	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST5	6764	broad.mit.edu	37	11	8717975	8717975	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8717975C>A	ENST00000534127.1	-	21	3676	c.3291G>T	c.(3289-3291)aaG>aaT	p.K1097N	ST5_ENST00000526757.1_Splice_Site_p.K677N|ST5_ENST00000313726.6_Splice_Site_p.K1097N|ST5_ENST00000530991.1_Splice_Site_p.K569N|ST5_ENST00000357665.1_Splice_Site_p.K1097N|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Splice_Site_p.K677N|ST5_ENST00000534278.1_Splice_Site_p.K288N|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Splice_Site_p.K610N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5			39					AAGACTTACCCTTTGCCCGAC	0.488000																								0							SO:0001630	splice_region_variant			ENST00000534127.1	1	0	hg19	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042502	0.55003	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.14640	3.0;3.3;3.3;3.01;3.3;3.0;2.49;3.0	5.87	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.52573	1.65	0.58432	D	0.999999	D;B;P	0.69078	0.997;0.389;0.63	D;B;B	0.64687	0.928;0.274;0.358	T	0.01059	-1.1465	10	0.87932	D	0	-16.4162	7.2537	0.26164	0.0:0.6408:0.0:0.3592	.	610;677;1097	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	N	677;1097;1097;569;1097;610;288;677	ENSP00000435097:K677N;ENSP00000433528:K1097N;ENSP00000319678:K1097N;ENSP00000432887:K569N;ENSP00000350294:K1097N;ENSP00000436808:K610N;ENSP00000433349:K288N;ENSP00000436802:K677N	ENSP00000319678:K1097N	K	-	3	2	ST5	8674551	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.892000	0.39748	0.841000	0.35020	-0.140000	0.14226	AAG		TCGA-IB-7651-01A-11D-2154-08	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	1	0	1	281	1313	0	330	1	1	18	157	0	330	2		0	0	0	0	0	2	1	1	276	1294	0	327	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST5	6764	broad.mit.edu	37	11	8734225	8734225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8734225C>T	ENST00000534127.1	-	12	2430	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	ST5_ENST00000526757.1_Missense_Mutation_p.R262H|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000357665.1_Missense_Mutation_p.R682H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Missense_Mutation_p.R262H|ST5_ENST00000526099.1_Missense_Mutation_p.R195H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5			39					CTCCAGCGTGCGATAGCTGGG	0.602000																								0							SO:0001583	missense			ENST00000534127.1	0	1	hg19	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597627	0.66332	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527	T;T;T;T;T;T;T;T;T;T	0.34072	2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;1.38;2.91	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.36672	1.1	0.53688	D	0.999971	B;B;B	0.23442	0.012;0.085;0.069	B;B;B	0.17979	0.005;0.02;0.016	T	0.09465	-1.0673	10	0.54805	T	0.06	-12.5329	10.5888	0.45298	0.0:0.8518:0.0:0.1482	.	195;262;682	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	H	262;682;682;154;682;195;262;154;292;139;154	ENSP00000435097:R262H;ENSP00000433528:R682H;ENSP00000319678:R682H;ENSP00000432887:R154H;ENSP00000350294:R682H;ENSP00000436808:R195H;ENSP00000436802:R262H;ENSP00000433588:R154H;ENSP00000437096:R139H;ENSP00000431580:R154H	ENSP00000319678:R682H	R	-	2	0	ST5	8690801	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.689000	0.61723	2.467000	0.83353	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	1	0	0	11	71	0	18	1	9.999701e-01	4	142	0	18	2		0	0	0	0	0	2	1	9.981794e-01	11	66	0	16	2								-18.994340	1	0	121378	1	22	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.840000	1.000000	1.000000	0.990882	0.990000	1	9.900000e-01	1
ST5	6764	broad.mit.edu	37	11	8737215	8737215	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8737215T>C	ENST00000534127.1	-	9	2165	c.1780A>G	c.(1780-1782)Aat>Gat	p.N594D	ST5_ENST00000526757.1_Missense_Mutation_p.N174D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D|ST5_ENST00000526099.1_Missense_Mutation_p.N107D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5			39					CTGTCTTCATTGAGGCTGGAG	0.657000																								0							SO:0001583	missense			ENST00000534127.1	1	1	hg19	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993474	0.54041	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060	T;T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.54	3.07	0.35406	.	0.278897	0.37136	N	0.002223	T	0.10895	0.0266	L	0.44542	1.39	0.09310	N	1	B;P;P	0.41748	0.411;0.551;0.761	B;B;B	0.40565	0.145;0.333;0.247	T	0.09907	-1.0653	10	0.33940	T	0.23	-9.1996	12.045	0.53475	0.0:0.0:0.2738:0.7262	.	107;174;594	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	D	174;594;594;66;594;107;174;66;204;66;66;83	ENSP00000435097:N174D;ENSP00000433528:N594D;ENSP00000319678:N594D;ENSP00000432887:N66D;ENSP00000350294:N594D;ENSP00000436808:N107D;ENSP00000436802:N174D;ENSP00000433588:N66D;ENSP00000437096:N66D;ENSP00000431580:N66D;ENSP00000433858:N83D	ENSP00000319678:N594D	N	-	1	0	ST5	8693791	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	1.873000	0.39558	0.330000	0.23485	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	1	0	1	103	427	0	85	1	9.999997e-01	7	84	0	85	2		0	0	0	0	0	2	1	1	102	410	0	83	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST5	6764	broad.mit.edu	37	11	8747727	8747727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8747727C>T	ENST00000534127.1	-	7	1755	c.1370G>A	c.(1369-1371)aGt>aAt	p.S457N	ST5_ENST00000526757.1_Missense_Mutation_p.S37N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000357665.1_Missense_Mutation_p.S457N|ST5_ENST00000530438.1_Missense_Mutation_p.S37N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5			39					GGACTGGAGACTGGATGCATC	0.458000																								0							SO:0001583	missense			ENST00000534127.1	1	1	hg19	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640994	0.87859	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000357665;ENST00000530438;ENST00000447053;ENST00000528196;ENST00000527510;ENST00000530580;ENST00000531093;ENST00000533225;ENST00000526126	T;T;T;T;T	0.08634	3.07;3.41;3.41;3.41;3.07	5.92	5.92	0.95590	.	0.169793	0.64402	D	0.000004	T	0.19765	0.0475	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.915	P;B	0.54889	0.763;0.397	T	0.00019	-1.2358	10	0.45353	T	0.12	-10.4636	20.3207	0.98668	0.0:1.0:0.0:0.0	.	37;457	P78524-2;P78524	.;ST5_HUMAN	N	37;457;457;457;37;67;37;37;37;37;37;37	ENSP00000435097:S37N;ENSP00000433528:S457N;ENSP00000319678:S457N;ENSP00000350294:S457N;ENSP00000436802:S37N	ENSP00000319678:S457N	S	-	2	0	ST5	8704303	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.813000	0.96785	0.561000	0.74099	AGT		TCGA-IB-7651-01A-11D-2154-08	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	1	0	1	76	301	0	74	1	9.999999e-01	4	91	0	74	2		0	0	0	0	0	2	1	1	75	291	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB38	23682	broad.mit.edu	37	11	87908434	87908434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87908434G>A	ENST00000243662.6	-	1	201	c.119C>T	c.(118-120)gCc>gTc	p.A40V	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family			11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			GCCGATTGTGGCCCGGTAGTG	0.622000																								0							SO:0001583	missense			ENST00000243662.6	1	1	hg19	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.023787|6.023787	0.97211|0.97211	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.80653|.	-1.4|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68091|0.68091	0.2963|0.2963	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.71414|.	0.973|.	T|T	0.63466|0.63466	-0.6631|-0.6631	9|5	.|.	.|.	.|.	-3.4587|-3.4587	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	40|.	P57729|.	RAB38_HUMAN|.	V|S	40|57	ENSP00000243662:A40V|.	.|.	A|P	-|-	2|1	0|0	RAB38|RAB38	87548082|87548082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.538000|9.538000	0.98072|0.98072	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CCA		TCGA-IB-7651-01A-11D-2154-08	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2	1	0	1	31	183	0	58	1	6.649978e-01	5	10	0	58	2		0	0	0	0	0	2	1	1	30	183	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999891	0.990000	1	9.900000e-01	1
GRM5	2915	broad.mit.edu	37	11	88242512	88242512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88242512C>T	ENST00000305447.4	-	9	3036	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	GRM5_ENST00000393297.1_Intron|GRM5-AS1_ENST00000531994.1_RNA|GRM5_ENST00000305432.5_Missense_Mutation_p.A931T|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Missense_Mutation_p.A963T|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5			90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)		Acamprosate(DB00659)|Rufinamide(DB06201)	CCAGCGCCAGCGCCCAGGCCA	0.726000																								0							SO:0001583	missense			ENST00000305447.4	1	1	hg19	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	3.302	-0.142761	0.06669	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.87966	-2.29;-2.32;-2.32;-2.29	3.95	2.03	0.26663	.	.	.	.	.	T	0.68174	0.2972	N	0.08118	0	0.09310	N	1	B;B	0.28208	0.005;0.203	B;B	0.15052	0.002;0.012	T	0.55335	-0.8157	8	.	.	.	.	4.7756	0.13178	0.2113:0.6773:0.0:0.1114	.	931;963	P41594-2;P41594	.;GRM5_HUMAN	T	963;931;931;963	ENSP00000402912:A963T;ENSP00000405690:A931T;ENSP00000305905:A931T;ENSP00000306138:A963T	.	A	-	1	0	GRM5	87882160	.	.	0.110000	0.21437	0.016000	0.09150	.	.	0.600000	0.29862	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	0	35	157	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	35	152	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GRM5	2915	broad.mit.edu	37	11	88300355	88300355	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300355G>A	ENST00000305447.4	-	7	2645	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	GRM5_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000305432.5_Silent_p.N832N|GRM5_ENST00000418177.2_Silent_p.N832N|GRM5_ENST00000455756.2_Silent_p.N832N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5			90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)		Acamprosate(DB00659)|Rufinamide(DB06201)	CGCTGCGCACGTTTCTCTCTG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000305447.4	1	1	hg19	CCDS44694.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	1	74	286	0	88	0	0	0	1	0	88	2		0	0	0	0	0	2	1	1	74	285	0	87	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM5	2915	broad.mit.edu	37	11	88300442	88300442	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300442A>C	ENST00000305447.4	-	7	2558	c.2409T>G	c.(2407-2409)tgT>tgG	p.C803W	GRM5_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000305432.5_Missense_Mutation_p.C803W|GRM5_ENST00000418177.2_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_Missense_Mutation_p.C803W	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5			90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)		Acamprosate(DB00659)|Rufinamide(DB06201)	TGACCGAGAAACACATGGTGA	0.502000																								0							SO:0001583	missense			ENST00000305447.4	1	1	hg19	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.892150	0.52014	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.58	-0.931	0.10438	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91364	0.5114	9	.	.	.	.	10.6791	0.45804	0.5453:0.0:0.4547:0.0	.	803;803	P41594-2;P41594	.;GRM5_HUMAN	W	803	ENSP00000402912:C803W;ENSP00000405690:C803W;ENSP00000305905:C803W;ENSP00000306138:C803W;ENSP00000376975:C803W	.	C	-	3	2	GRM5	87940090	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	2.133000	0.42093	-0.165000	0.10908	0.459000	0.35465	TGT		TCGA-IB-7651-01A-11D-2154-08	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	1	89	399	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	89	397	0	93	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM5	2915	broad.mit.edu	37	11	88301064	88301064	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88301064A>G	ENST00000305447.4	-	7	1936	c.1787T>C	c.(1786-1788)tTt>tCt	p.F596S	GRM5_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000305432.5_Missense_Mutation_p.F596S|GRM5_ENST00000418177.2_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_Missense_Mutation_p.F596S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5			90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)		Acamprosate(DB00659)|Rufinamide(DB06201)	TACAGTAACAAACAGGGTGGC	0.517000																								0							SO:0001583	missense			ENST00000305447.4	1	1	hg19	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445172	0.63178	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	L	0.50333	1.59	0.51482	D	0.999926	D;D	0.76494	0.999;0.98	D;P	0.80764	0.994;0.828	D	0.91831	0.5475	9	.	.	.	.	15.9905	0.80202	1.0:0.0:0.0:0.0	.	596;596	P41594-2;P41594	.;GRM5_HUMAN	S	596	ENSP00000402912:F596S;ENSP00000405690:F596S;ENSP00000305905:F596S;ENSP00000306138:F596S;ENSP00000376975:F596S	.	F	-	2	0	GRM5	87940712	1.000000	0.71417	0.985000	0.45067	0.769000	0.43574	7.576000	0.82467	2.187000	0.69744	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	0	10	222	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	9.967206e-01	10	217	0	45	2								-12.371310	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.530000	0.270000	1.000000	0.500000	0.560774	0.530000	0	3.800000e-01	7.300000e-01
GRM5	2915	broad.mit.edu	37	11	88386453	88386453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88386453G>A	ENST00000305447.4	-	3	1179	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	GRM5_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000305432.5_Missense_Mutation_p.L344F|GRM5_ENST00000418177.2_Missense_Mutation_p.L344F|GRM5_ENST00000455756.2_Missense_Mutation_p.L344F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5			90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)		Acamprosate(DB00659)|Rufinamide(DB06201)	TCTGGCCGGAGCTTCAGATAA	0.458000																								0							SO:0001583	missense			ENST00000305447.4	1	1	hg19	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078044	0.94000	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93388	0.6749	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	344;344	P41594-2;P41594	.;GRM5_HUMAN	F	344	ENSP00000402912:L344F;ENSP00000405690:L344F;ENSP00000305905:L344F;ENSP00000306138:L344F;ENSP00000376975:L344F	.	L	-	1	0	GRM5	88026101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	1	66	305	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	65	296	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM5	2915	broad.mit.edu	37	11	88780583	88780583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88780583G>T	ENST00000305447.4	-	1	607	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000418177.2_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5			90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)		Acamprosate(DB00659)|Rufinamide(DB06201)	AATGGCTACAGAACTGGAGCC	0.502000																								0							SO:0001583	missense			ENST00000305447.4	1	1	hg19	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341825	0.81911	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	D	0.93017	0.6437	9	.	.	.	.	19.1788	0.93614	0.0:0.0:1.0:0.0	.	153;153;153	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	Y	153	ENSP00000402912:S153Y;ENSP00000405690:S153Y;ENSP00000305905:S153Y;ENSP00000306138:S153Y;ENSP00000376975:S153Y;ENSP00000376972:S153Y	.	S	-	2	0	GRM5	88420231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.713000	0.84693	2.514000	0.84764	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	1	0	0	29	284	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	29	280	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.750000	1.000000	1.000000	0.969006	0.990000	1	9.100000e-01	1
TYR	7299	broad.mit.edu	37	11	88924508	88924508	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924508T>G	ENST00000263321.5	+	2	1460	c.958T>G	c.(958-960)Ttt>Gtt	p.F320V	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase			48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)		Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGATGTAGAATTTTGCCTGAG	0.438000																								0							SO:0001583	missense			ENST00000263321.5	1	1	hg19	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147879	0.37923	.	.	ENSG00000077498	ENST00000263321	D	0.97232	-4.3	5.37	3.02	0.34903	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.549024	0.22235	N	0.062768	D	0.95825	0.8641	M	0.88181	2.935	0.33538	D	0.594502	B	0.32653	0.379	B	0.31946	0.138	D	0.93974	0.7252	9	.	.	.	.	4.4972	0.11842	0.1436:0.1499:0.0:0.7065	.	320	P14679	TYRO_HUMAN	V	320	ENSP00000263321:F320V	.	F	+	1	0	TYR	88564156	1.000000	0.71417	0.826000	0.32828	0.966000	0.64601	3.802000	0.55553	0.348000	0.23949	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	1	0	0	39	795	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	1	38	773	0	140	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.550000	0.390000	1.000000	0.550000	0.578701	0.550000	0	4.700000e-01	6.600000e-01
TYR	7299	broad.mit.edu	37	11	88924572	88924572	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924572G>T	ENST00000263321.5	+	2	1524	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase			48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)		Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TTCAGCTTTAGAAATACACTG	0.368000																								0							SO:0001583	missense			ENST00000263321.5	1	1	hg19	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383941	0.82792	.	.	ENSG00000077498	ENST00000263321	D	0.97378	-4.36	5.59	4.68	0.58851	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.045357	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99556	1.0967	9	.	.	.	.	14.4613	0.67450	0.0705:0.0:0.9294:0.0	.	341	P14679	TYRO_HUMAN	I	341	ENSP00000263321:R341I	.	R	+	2	0	TYR	88564220	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.273000	0.95719	1.370000	0.46153	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	1	0	1	139	573	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1	138	559	0	145	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TYR	7299	broad.mit.edu	37	11	89017970	89017970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89017970G>A	ENST00000263321.5	+	4	1716	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase			48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)		Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CGAAGGCACCGTCCTCTTCAA	0.383000																								0		GRCh37	CM041480	TYR	M		SO:0001583	missense			ENST00000263321.5	1	1	hg19	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069557	0.20147	.	.	ENSG00000077498	ENST00000263321	D	0.98862	-5.19	4.68	-0.449	0.12226	Uncharacterised domain, di-copper centre (2);	0.493212	0.19908	N	0.103354	D	0.95182	0.8438	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.84679	0.0716	9	.	.	.	.	15.3426	0.74309	0.1635:0.0:0.8365:0.0	.	405	P14679	TYRO_HUMAN	H	405	ENSP00000263321:R405H	.	R	+	2	0	TYR	88657618	0.015000	0.18098	0.017000	0.16124	0.879000	0.50718	1.025000	0.30090	-0.284000	0.09102	-1.164000	0.01763	CGT		TCGA-IB-7651-01A-11D-2154-08	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	1	0	1	61	262	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	59	255	0	65	2								-3.138834	1	1	121398	9	39	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TYR	7299	broad.mit.edu	37	11	89028501	89028501	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89028501G>A	ENST00000263321.5	+	5	2059	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase			48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)		Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGGAGAAAGAGGATTACCACA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000263321.5	0	1	hg19	CCDS8284.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	0	0	0	23	142	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.999858e-01	14	104	0	51	2								-20.000000	1	1	121112	1	25	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999258	0.990000	1	9.900000e-01	1
NOX4	50507	broad.mit.edu	37	11	89133228	89133228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89133228G>A	ENST00000263317.4	-	11	1269	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	NOX4_ENST00000535633.1_Missense_Mutation_p.P320L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000375979.3_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4			44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)			AGATACACTGGGACAATGTAG	0.303000																								0							SO:0001583	missense			ENST00000263317.4	1	1	hg19	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228728	0.79576	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	4.77	4.77	0.60923	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.994;0.997	D;D;D;D;D	0.97110	0.995;0.999;1.0;0.971;0.968	T	0.35798	-0.9774	9	.	.	.	-11.8467	18.1413	0.89641	0.0:0.0:1.0:0.0	.	320;178;319;344;344	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	L	320;320;320;344;344;320;320;320;178;319;365	ENSP00000412446:P320L;ENSP00000440172:P320L;ENSP00000344747:P320L;ENSP00000436892:P344L;ENSP00000263317:P344L;ENSP00000434924:P320L;ENSP00000433797:P320L;ENSP00000439373:P320L;ENSP00000436093:P178L;ENSP00000436970:P319L;ENSP00000405705:P365L	.	P	-	2	0	NOX4	88772876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.237000	0.89807	2.362000	0.80069	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	1	0	1	46	211	0	49	0	9.947227e-01	0	40	0	49	2		0	0	0	0	0	2	1	1	46	206	0	48	2								-3.181079	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOLH1B	219595	broad.mit.edu	37	11	89385740	89385740	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89385740C>A	ENST00000532352.1	+	0	377							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B			48					TCTTTCAGTGCTTTCTCTCCT	0.338000																								0											ENST00000532352.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	0	0	0	63	304	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	60	288	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOLH1B	219595	broad.mit.edu	37	11	89424667	89424667	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89424667C>T	ENST00000532352.1	+	0	1830							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B			48					CCAAGTTCAGCGAGAGACTCC	0.279000																								0											ENST00000532352.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	0	0	0	27	189	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	9.999999e-01	22	175	0	45	2								-3.319805	1	1	121394	4	33	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998451	0.990000	1	9.900000e-01	1
C11orf16	56673	broad.mit.edu	37	11	8950933	8950933	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8950933G>T	ENST00000326053.5	-	3	421	c.315C>A	c.(313-315)gcC>gcA	p.A105A	C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16			22					CCTCGGGAGTGGCCTTTATTT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000326053.5	1	1	hg19	CCDS7794.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	1	0	1	24	216	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.999997e-01	23	213	0	48	2								-10.321270	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.780000	1.000000	1.000000	0.980128	0.990000	1	9.700000e-01	1
TRIM49	57093	broad.mit.edu	37	11	89537566	89537566	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89537566G>A	ENST00000329758.1	-	3	400	c.72C>T	c.(70-72)gaC>gaT	p.D24D	TRIM49_ENST00000532501.2_Silent_p.D24D	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49			27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)			TGGTGACCGGGTCTATGAAGT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000329758.1	0	1	hg19	CCDS8287.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	0	0	0	49	328	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	21	165	0	138	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
NAALAD2	10003	broad.mit.edu	37	11	89868815	89868815	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89868815T>C	ENST00000534061.1	+	2	401	c.171T>C	c.(169-171)gcT>gcC	p.A57A	NAALAD2_ENST00000375944.3_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A|NAALAD2_ENST00000525171.1_Silent_p.A57A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2			59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)			AAATGAAAGCTGAAAACATCA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000534061.1	1	1	hg19	CCDS8288.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	1	0	1	45	207	0	59	0	3.311887e-02	0	2	0	59	2		0	0	0	0	0	2	1	1	45	198	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAALAD2	10003	broad.mit.edu	37	11	89882186	89882186	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89882186T>G	ENST00000534061.1	+	4	624	c.394T>G	c.(394-396)Tca>Gca	p.S132A	NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S132A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2			59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)			TTTCAAAACATCATACCTTGA	0.323000																								0							SO:0001583	missense			ENST00000534061.1	1	1	hg19	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	T	7.130	0.579740	0.13686	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.37	2.96	0.34315	.	0.199984	0.34906	N	0.003590	T	0.33760	0.0874	L	0.48877	1.53	0.53688	D	0.999974	B;B;B;B;B	0.11235	0.001;0.001;0.0;0.003;0.004	B;B;B;B;B	0.17098	0.004;0.011;0.001;0.014;0.017	T	0.07693	-1.0759	9	.	.	.	-7.6689	10.4162	0.44322	0.2791:0.0:0.0:0.7209	.	132;132;132;132;132	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	A	132;132;132;132;78	ENSP00000432481:S132A;ENSP00000320083:S132A;ENSP00000435249:S132A;ENSP00000365111:S132A;ENSP00000435670:S78A	.	S	+	1	0	NAALAD2	89521834	0.997000	0.39634	0.260000	0.24451	0.007000	0.05969	3.312000	0.51927	0.305000	0.22832	0.451000	0.29950	TCA		TCGA-IB-7651-01A-11D-2154-08	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	1	0	1	123	459	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1	120	448	0	145	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAALAD2	10003	broad.mit.edu	37	11	89903276	89903276	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89903276A>G	ENST00000534061.1	+	13	1612	c.1382A>G	c.(1381-1383)tAc>tGc	p.Y461C	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2			59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)			CCCCTTCTTTACCAATTAGTG	0.313000																								0							SO:0001583	missense			ENST00000534061.1	1	1	hg19	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308005	0.40895	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.40476	1.03;1.03	5.78	4.64	0.57946	Peptidase M28 (1);	0.584174	0.17427	N	0.174618	T	0.59514	0.2199	M	0.69358	2.11	0.80722	D	1	D	0.63880	0.993	D	0.64877	0.93	T	0.57021	-0.7882	9	.	.	.	0.0033	12.3408	0.55093	0.8733:0.0:0.0:0.1267	.	461	Q9Y3Q0	NALD2_HUMAN	C	461;428	ENSP00000432481:Y461C;ENSP00000320083:Y428C	.	Y	+	2	0	NAALAD2	89542924	1.000000	0.71417	0.320000	0.25306	0.309000	0.27889	6.826000	0.75298	1.011000	0.39340	0.454000	0.30748	TAC		TCGA-IB-7651-01A-11D-2154-08	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	1	0	1	76	364	0	129	0	1.422029e-01	0	4	0	129	2		0	0	0	0	0	2	1	1	76	362	0	127	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRIP3	56675	broad.mit.edu	37	11	9009763	9009763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9009763G>A	ENST00000309166.3	-	2	354	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3			7					CAAGGGACACGGGGACCGCTT	0.493000																								0							SO:0001583	missense			ENST00000309166.3	1	1	hg19	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644065	0.87859	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.48201	0.82	6.06	5.14	0.70334	.	0.114972	0.64402	D	0.000015	T	0.58250	0.2109	L	0.51422	1.61	0.58432	D	0.99999	D	0.76494	0.999	P	0.56088	0.791	T	0.62651	-0.6809	10	0.72032	D	0.01	-34.6088	16.3598	0.83257	0.0:0.1324:0.8676:0.0	.	81	Q9NQ35	NRIP3_HUMAN	C	81;81;74	ENSP00000310205:R81C	ENSP00000310205:R81C	R	-	1	0	NRIP3	8966339	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	4.651000	0.61447	1.555000	0.49500	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	0	0	1	134	584	1	114	0	3.876731e-01	0	7	1	114	2		0	0	0	0	0	2	1	1	133	575	1	114	21								-2.412229	0	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND5A	23258	broad.mit.edu	37	11	9164309	9164309	+	Silent	SNP	C	C	T	rs145302750	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9164309C>T	ENST00000328194.3	-	21	3791	c.3471G>A	c.(3469-3471)tcG>tcA	p.S1157S	DENND5A_ENST00000527700.1_Silent_p.S500S|DENND5A_ENST00000530044.1_Silent_p.S1157S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A			39					AGAGCCGGGGCGATTTAAATC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000328194.3	1	1	hg19	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102341	0.20632	0.0	4.66E-4	ENSG00000184014	ENST00000528725;ENST00000533737	.	.	.	5.8	-11.5	0.00074	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46345	-0.9198	4	.	.	.	.	4.4113	0.11434	0.1371:0.3831:0.2786:0.2013	.	.	.	.	H	56;45	.	.	R	-	2	0	DENND5A	9120885	0.000000	0.05858	0.748000	0.31131	0.996000	0.88848	-2.145000	0.01295	-1.597000	0.01609	-0.238000	0.12139	CGC		TCGA-IB-7651-01A-11D-2154-08	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	1	0	1	162	741	0	203	1	1	7	107	0	203	2		0	0	0	0	0	2	1	1	159	729	0	202	2								-20.000000	1	1	121412	35	51	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND5A	23258	broad.mit.edu	37	11	9166622	9166622	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9166622G>T	ENST00000328194.3	-	18	3362	c.3042C>A	c.(3040-3042)ggC>ggA	p.G1014G	DENND5A_ENST00000527700.1_Silent_p.G357G|DENND5A_ENST00000530044.1_Silent_p.G1014G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A			39					AGTTATCATGGCCAATCTGGA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000328194.3	1	1	hg19	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.933|9.933	1.215366|1.215366	0.22373|0.22373	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000525784|ENST00000524446	.|.	.|.	.|.	5.65|5.65	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	T|T	0.58452|0.58452	0.2123|0.2123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54873|0.54873	-0.8228|-0.8228	4|4	.|.	.|.	.|.	-13.9587|-13.9587	8.5325|8.5325	0.33344|0.33344	0.0:0.1334:0.6002:0.2664|0.0:0.1334:0.6002:0.2664	.|.	.|.	.|.	.|.	D|T	62|185	.|.	.|.	A|P	-|-	2|1	0|0	DENND5A|DENND5A	9123198|9123198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.546000|1.546000	0.36179|0.36179	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GCC|CCA		TCGA-IB-7651-01A-11D-2154-08	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	1	0	1	85	467	0	104	1	9.999978e-01	6	97	0	104	2		0	0	0	0	0	2	1	1	85	461	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND5A	23258	broad.mit.edu	37	11	9172287	9172287	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9172287C>A	ENST00000328194.3	-	14	2866	c.2546G>T	c.(2545-2547)aGg>aTg	p.R849M	DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M|DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A			39					ATCAGACTTCCTACGTTCTGA	0.433000																								0							SO:0001583	missense			ENST00000328194.3	1	1	hg19	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.494366|9.494366	0.99187|0.99187	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.53|5.53	5.53|5.53	0.82687|0.82687	RUN (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77253|.	0.4103|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.994;0.998|.	D;D|.	0.70227|.	0.928;0.968|.	T|.	0.76206|.	-0.3044|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.4553|19.4553	0.94884|0.94884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849;849|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	M|Y	849;849;192|19	ENSP00000328524:R849M;ENSP00000435866:R849M;ENSP00000432549:R192M|.	ENSP00000328524:R849M|.	R|X	-|-	2|3	0|2	DENND5A|DENND5A	9128863|9128863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.794000|7.794000	0.85869|0.85869	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	AGG|TAG		TCGA-IB-7651-01A-11D-2154-08	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	1	0	1	39	194	0	71	0	9.999615e-01	0	80	0	71	2		0	0	0	0	0	2	1	1	39	191	0	71	2								-2.894667	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DENND5A	23258	broad.mit.edu	37	11	9200460	9200460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9200460C>A	ENST00000328194.3	-	7	1936	c.1616G>T	c.(1615-1617)aGc>aTc	p.S539I	DENND5A_ENST00000526523.1_5'Flank|DENND5A_ENST00000530044.1_Missense_Mutation_p.S539I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A			39					CTTATCCTGGCTGGGTTGGAT	0.433000																								0							SO:0001583	missense			ENST00000328194.3	1	1	hg19	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687429	0.68157	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.47177	0.85;0.85	5.06	5.06	0.68205	dDENN (3);	0.043766	0.85682	D	0.000000	T	0.56673	0.2001	L	0.29908	0.895	0.80722	D	1	P;P	0.49447	0.91;0.924	P;P	0.60473	0.752;0.875	T	0.58538	-0.7619	10	0.54805	T	0.06	.	18.7769	0.91915	0.0:1.0:0.0:0.0	.	539;539	E9PS91;Q6IQ26	.;DEN5A_HUMAN	I	539	ENSP00000328524:S539I;ENSP00000435866:S539I	ENSP00000328524:S539I	S	-	2	0	DENND5A	9157036	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.168000	0.50801	2.498000	0.84270	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	1	0	1	109	453	0	91	1	9.998716e-01	4	52	0	91	2		0	0	0	0	0	2	1	1	108	448	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT3	120114	broad.mit.edu	37	11	92085814	92085814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92085814A>G	ENST00000298047.6	+	1	553	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			AGTGTTGCCCAGGTGACTGCA	0.408000										TCGA Ovarian(4;0.039)														0							SO:0001583	missense			ENST00000298047.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	1.197	-0.633542	0.03584	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.26	5.26	0.73747	.	.	.	.	.	T	0.30696	0.0773	N	0.16233	0.39	0.32415	N	0.550188	B	0.25105	0.118	B	0.26969	0.075	T	0.19778	-1.0295	9	0.06494	T	0.89	.	14.6575	0.68844	1.0:0.0:0.0:0.0	.	179	Q8TDW7-3	.	R	179;179;179;29	ENSP00000298047:Q179R;ENSP00000387040:Q179R;ENSP00000443786:Q179R;ENSP00000432586:Q29R	ENSP00000298047:Q179R	Q	+	2	0	FAT3	91725462	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.197000	0.65141	2.108000	0.64289	0.533000	0.62120	CAG		TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	52	227	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	1	52	221	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT3	120114	broad.mit.edu	37	11	92088327	92088327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92088327C>T	ENST00000298047.6	+	1	3066	c.3049C>T	c.(3049-3051)Cgg>Tgg	p.R1017W	FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W|FAT3_ENST00000525166.1_Missense_Mutation_p.R867W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			AGACAAAGGGCGGCCTGTCTC	0.463000										TCGA Ovarian(4;0.039)														0							SO:0001583	missense			ENST00000298047.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738915	0.49045	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	4.9	0.64082	.	.	.	.	.	T	0.60379	0.2264	L	0.46670	1.46	0.35678	D	0.813842	D	0.89917	1.0	D	0.70935	0.971	T	0.70737	-0.4790	9	0.62326	D	0.03	.	13.1108	0.59273	0.2917:0.7083:0.0:0.0	.	1017	Q8TDW7-3	.	W	1017;1017;1017;867	ENSP00000298047:R1017W;ENSP00000387040:R1017W;ENSP00000443786:R1017W;ENSP00000432586:R867W	ENSP00000298047:R1017W	R	+	1	2	FAT3	91727975	0.951000	0.32395	1.000000	0.80357	1.000000	0.99986	1.969000	0.40510	1.452000	0.47756	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	9	177	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	9.935237e-01	9	170	0	31	2								-4.020156	1	1	120844	1	16	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.590000	0.290000	1.000000	1.000000	0.623977	0.590000	0	4.200000e-01	8.300000e-01
FAT3	120114	broad.mit.edu	37	11	92258078	92258078	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92258078A>G	ENST00000298047.6	+	2	3588	c.3571A>G	c.(3571-3573)Aat>Gat	p.N1191D	FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D|FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D|FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			TACAAGTGGAAATCCTCAGAA	0.383000										TCGA Ovarian(4;0.039)														0							SO:0001583	missense			ENST00000298047.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	26.8	4.774069	0.90108	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.53	5.53	0.82687	.	.	.	.	.	T	0.63367	0.2505	L	0.49513	1.565	0.54753	D	0.99998	D	0.76494	0.999	D	0.85130	0.997	T	0.62732	-0.6792	9	0.44086	T	0.13	.	15.6674	0.77242	1.0:0.0:0.0:0.0	.	1191	Q8TDW7-3	.	D	1191;1191;1191;1041	ENSP00000298047:N1191D;ENSP00000387040:N1191D;ENSP00000443786:N1191D;ENSP00000432586:N1041D	ENSP00000298047:N1191D	N	+	1	0	FAT3	91897726	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.262000	0.95591	2.112000	0.64535	0.455000	0.32223	AAT		TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	39	175	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	39	172	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT3	120114	broad.mit.edu	37	11	92531437	92531437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92531437C>A	ENST00000298047.6	+	9	5275	c.5258C>A	c.(5257-5259)gCt>gAt	p.A1753D	FAT3_ENST00000525166.1_Missense_Mutation_p.A1603D|FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			GCTTCCAATGCTACAGTCAAT	0.443000										TCGA Ovarian(4;0.039)														0							SO:0001583	missense			ENST00000298047.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.24	3.789713	0.70337	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.56611	0.45;0.45;0.45	5.93	3.93	0.45458	.	.	.	.	.	T	0.69753	0.3146	H	0.94222	3.51	0.80722	D	1	P	0.51147	0.942	P	0.48795	0.59	T	0.77178	-0.2683	9	0.72032	D	0.01	.	12.0978	0.53765	0.0:0.894:0.0:0.106	.	1753	Q8TDW7-3	.	D	1753;1753;1603	ENSP00000298047:A1753D;ENSP00000387040:A1753D;ENSP00000432586:A1603D	ENSP00000298047:A1753D	A	+	2	0	FAT3	92171085	1.000000	0.71417	0.969000	0.41365	0.809000	0.45718	2.661000	0.46758	0.711000	0.32018	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	10	230	0	53	0	2.244669e-03	0	2	0	53	2		0	0	0	0	0	2	1	9.965794e-01	10	223	0	50	2								-4.268218	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.510000	0.260000	1.000000	0.490000	0.544032	0.510000	0	3.700000e-01	7.100000e-01
FAT3	120114	broad.mit.edu	37	11	92533803	92533803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92533803G>A	ENST00000298047.6	+	9	7641	c.7624G>A	c.(7624-7626)Gat>Aat	p.D2542N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2392N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			CTTTGCCAAGGATCGATTCCT	0.493000										TCGA Ovarian(4;0.039)														0							SO:0001583	missense			ENST00000298047.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.4	3.981542	0.74474	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60424	0.19;0.19;0.19	5.95	5.04	0.67666	.	.	.	.	.	T	0.44159	0.1280	L	0.33485	1.01	0.80722	D	1	B	0.29766	0.256	B	0.25140	0.058	T	0.37911	-0.9685	9	0.39692	T	0.17	.	10.5916	0.45312	0.0684:0.1337:0.7978:0.0	.	2542	Q8TDW7-3	.	N	2542;2542;2392	ENSP00000298047:D2542N;ENSP00000387040:D2542N;ENSP00000432586:D2392N	ENSP00000298047:D2542N	D	+	1	0	FAT3	92173451	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.887000	0.63156	1.511000	0.48818	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	29	107	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	29	105	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FAT3	120114	broad.mit.edu	37	11	92534060	92534060	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534060C>T	ENST00000298047.6	+	9	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P	FAT3_ENST00000525166.1_Silent_p.P2477P|FAT3_ENST00000409404.2_Silent_p.P2627P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			CCATAGATCCCGATGATGGAG	0.498000										TCGA Ovarian(4;0.039)														0							SO:0001819	synonymous_variant			ENST00000298047.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	16	86	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	9.999469e-01	16	83	0	16	2								-2.450402	0	1	120868	9	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998983	0.990000	1	9.900000e-01	1
FAT3	120114	broad.mit.edu	37	11	92534276	92534276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534276G>A	ENST00000298047.6	+	9	8114	c.8097G>A	c.(8095-8097)ttG>ttA	p.L2699L	FAT3_ENST00000525166.1_Silent_p.L2549L|FAT3_ENST00000409404.2_Silent_p.L2699L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			TCCACGTCTTGCCCCCTGAAA	0.463000										TCGA Ovarian(4;0.039)														0							SO:0001819	synonymous_variant			ENST00000298047.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	29	166	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	1	28	162	0	47	2								-14.999350	1	0	120876	1	30	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999894	0.990000	1	9.900000e-01	1
FAT3	120114	broad.mit.edu	37	11	92534289	92534289	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534289T>G	ENST00000298047.6	+	9	8127	c.8110T>G	c.(8110-8112)Ttc>Gtc	p.F2704V	FAT3_ENST00000525166.1_Missense_Mutation_p.F2554V|FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			CCCTGAAACGTTCTTGCCATC	0.473000										TCGA Ovarian(4;0.039)														0							SO:0001583	missense			ENST00000298047.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	3.434	-0.115509	0.06881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	6.08	-2.07	0.07276	.	.	.	.	.	T	0.31009	0.0783	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16958	-1.0385	9	0.15952	T	0.53	.	3.0455	0.06152	0.1513:0.4275:0.2181:0.2031	.	2704	Q8TDW7-3	.	V	2704;2704;2554	ENSP00000298047:F2704V;ENSP00000387040:F2704V;ENSP00000432586:F2554V	ENSP00000298047:F2704V	F	+	1	0	FAT3	92173937	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.105000	0.15333	-0.283000	0.09115	-0.326000	0.08463	TTC		TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	32	173	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	1	31	169	0	49	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
FAT3	120114	broad.mit.edu	37	11	92577129	92577129	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92577129T>G	ENST00000298047.6	+	18	10613	c.10596T>G	c.(10594-10596)gtT>gtG	p.V3532V	FAT3_ENST00000525166.1_Silent_p.V3382V|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000409404.2_Silent_p.V3532V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			CCCAGCAAGTTTCTCACACTT	0.443000										TCGA Ovarian(4;0.039)														0							SO:0001819	synonymous_variant			ENST00000298047.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	184	807	0	215		0	0	0	0	215	2		0	0	0	0	0	2	1	1	181	791	0	212	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTNR1B	4544	broad.mit.edu	37	11	92702921	92702921	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92702921C>T	ENST00000257068.2	+	1	36	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B			33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCGCCAACTGCTGCGAGGCGG	0.741000																								0							SO:0001819	synonymous_variant			ENST00000257068.2	1	1	hg19	CCDS8290.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1	1	0	0	32	113	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	1	31	111	0	14	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC36A4	120103	broad.mit.edu	37	11	92901261	92901261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92901261C>T	ENST00000326402.4	-	7	747	c.617G>A	c.(616-618)aGt>aAt	p.S206N	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S71N	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4			25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			TAGGTCAACACTTCTTCTCTC	0.343000																								0							SO:0001583	missense			ENST00000326402.4	1	1	hg19	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052602	0.36181	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02301	4.35;4.35;4.35	5.47	2.57	0.30868	.	0.178651	0.51477	N	0.000097	T	0.01940	0.0061	N	0.24115	0.695	0.24548	N	0.994039	B	0.15141	0.012	B	0.25614	0.062	T	0.46693	-0.9173	10	0.28530	T	0.3	-9.6457	8.2408	0.31658	0.0:0.5642:0.2946:0.1412	.	206	Q6YBV0	S36A4_HUMAN	N	206;71;100	ENSP00000317382:S206N;ENSP00000436570:S71N;ENSP00000432061:S100N	ENSP00000317382:S206N	S	-	2	0	SLC36A4	92540909	0.323000	0.24643	0.996000	0.52242	0.996000	0.88848	0.337000	0.19841	0.275000	0.22094	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2	0	0	1	55	299	1	74	1	9.331294e-01	8	38	1	74	4		0	0	0	0	0	2	1	9.999998e-01	55	295	1	74	16								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC36A4	120103	broad.mit.edu	37	11	92917667	92917667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92917667G>A	ENST00000326402.4	-	3	329	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4			25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			TTAAGAAGGTGCATAAGAGTT	0.313000																								0							SO:0001583	missense			ENST00000326402.4	1	1	hg19	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390349	0.82902	.	.	ENSG00000180773	ENST00000326402	T	0.02472	4.28	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02588	-1.1137	10	0.87932	D	0	-18.8948	20.2544	0.98414	0.0:0.0:1.0:0.0	.	67	Q6YBV0	S36A4_HUMAN	Y	67	ENSP00000317382:H67Y	ENSP00000317382:H67Y	H	-	1	0	SLC36A4	92557315	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.710000	0.84655	2.885000	0.99019	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2	1	0	1	142	535	0	136	1	9.294708e-01	2	17	0	136	2		0	0	0	0	0	2	1	1	141	527	0	134	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM41B	440026	broad.mit.edu	37	11	9335893	9335893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9335893C>T	ENST00000528080.1	-	1	434	c.96G>A	c.(94-96)gcG>gcA	p.A32A	TMEM41B_ENST00000533723.1_Silent_p.A32A|TMEM41B_ENST00000527813.1_Silent_p.A32A	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B			7					TGCTGCCAGGCGCCGCGAGAC	0.711000																								0							SO:0001819	synonymous_variant			ENST00000528080.1	0	1	hg19	CCDS31424.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2	1	0	0	6	62	0	14	1	7.995164e-01	3	30	0	14	2		0	0	0	0	0	2	1	9.673002e-01	6	62	0	13	2								-12.009950	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.460000	1.000000	1.000000	0.898608	0.990000	1	7.200000e-01	1
TAF1D	79101	broad.mit.edu	37	11	93471348	93471348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93471348C>A	ENST00000448108.2	-	3	1036	c.386G>T	c.(385-387)aGa>aTa	p.R129I	SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa			7					GCCAGATCCTCTGCTTCTAAA	0.398000																								0							SO:0001583	missense			ENST00000448108.2	1	1	hg19	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596396	0.28445	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	-2.84	0.05751	.	0.438594	0.22677	N	0.056993	T	0.24774	0.0601	L	0.38175	1.15	0.09310	N	0.999996	P	0.47302	0.893	B	0.40825	0.341	T	0.26538	-1.0100	9	0.72032	D	0.01	-5.3265	10.8645	0.46847	0.0:0.501:0.0:0.499	.	129	Q9H5J8	TAF1D_HUMAN	I	129	.	ENSP00000314971:R129I	R	-	2	0	TAF1D	93110996	0.082000	0.21442	0.002000	0.10522	0.002000	0.02628	-0.278000	0.08490	-0.669000	0.05289	-1.934000	0.00508	AGA		TCGA-IB-7651-01A-11D-2154-08	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	1	0	1	125	616	0	112	1	1	60	146	0	112	2		0	0	0	0	0	2	1	1	125	608	0	112	2								-3.229040	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C11orf54	28970	broad.mit.edu	37	11	93487188	93487188	+	Silent	SNP	C	C	T	rs147973802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93487188C>T	ENST00000331239.4	+	5	494	c.315C>T	c.(313-315)ctC>ctT	p.L105L	C11orf54_ENST00000354421.3_Silent_p.L105L|C11orf54_ENST00000528288.1_Silent_p.L105L|C11orf54_ENST00000528099.1_Silent_p.L105L|C11orf54_ENST00000540113.1_Silent_p.L86L			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54			8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			TTCAGACTCTCGGGTTCAATT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000331239.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	1	0	1	108	533	0	115	1	1	55	80	0	115	2		0	0	0	0	0	2	1	1	108	528	0	112	2								-2.698132	1	1	121394	4	46	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED17	9440	broad.mit.edu	37	11	93526947	93526947	+	Missense_Mutation	SNP	G	G	A	rs140935979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93526947G>A	ENST00000251871.3	+	4	978	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17			14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			TACAGATCTCGATCTGGATAA	0.303000																								0							SO:0001583	missense			ENST00000251871.3	1	1	hg19	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652685	0.88056	2.27E-4	0.0	ENSG00000042429	ENST00000251871;ENST00000427225;ENST00000528786	T;T	0.54675	0.56;0.56	5.47	5.47	0.80525	.	0.044267	0.85682	D	0.000000	T	0.70046	0.3179	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65092	-0.6252	10	0.28530	T	0.3	-24.2179	19.3299	0.94281	0.0:0.0:1.0:0.0	.	231	Q9NVC6	MED17_HUMAN	N	231;201;123	ENSP00000251871:D231N;ENSP00000433626:D123N	ENSP00000251871:D231N	D	+	1	0	MED17	93166595	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.814000	0.86154	2.591000	0.87537	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	1	0	1	40	173	0	58	1	9.999988e-01	30	65	0	58	2		0	0	0	0	0	2	1	1	39	168	0	58	2								-3.410702	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED17	9440	broad.mit.edu	37	11	93529577	93529577	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93529577C>T	ENST00000251871.3	+	7	1301	c.1014C>T	c.(1012-1014)agC>agT	p.S338S	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17			14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			TATAAATAGGCTTGCAGTTAT	0.333000																								0							SO:0001630	splice_region_variant			ENST00000251871.3	1	0	hg19	CCDS8295.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	1	0	1	70	382	0	82	1	9.999548e-01	6	75	0	82	2		0	0	0	0	0	2	1	1	69	375	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED17	9440	broad.mit.edu	37	11	93540697	93540697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93540697C>T	ENST00000251871.3	+	10	1767	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17			14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			CATTCAACTGCAATTGAATAT	0.323000																								0							SO:0001587	stop_gained			ENST00000251871.3	0	1	hg19	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	C	41	8.783231	0.98952	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.875	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	494;464	.	ENSP00000251871:Q494X	Q	+	1	0	MED17	93180345	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.617000	0.83032	2.873000	0.98535	0.563000	0.77884	CAA		TCGA-IB-7651-01A-11D-2154-08	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	0	0	0	9	316	0	67	1	6.998523e-01	2	83	0	67	2		0	0	0	0	0	2	1	9.938865e-01	9	310	0	66	2								-3.509419	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.340000	0.160000	1.000000	0.330000	0.380482	0.340000	0	2.400000e-01	4.800000e-01
HEPHL1	341208	broad.mit.edu	37	11	93808358	93808358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93808358C>T	ENST00000315765.9	+	9	1531	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1			61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)			AAACCAGGGGCGCATGTTAAA	0.463000																								0							SO:0001583	missense			ENST00000315765.9	1	1	hg19	CCDS44710.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.80	2.642441	0.47153	.	.	ENSG00000181333	ENST00000315765	D	0.99470	-5.96	5.46	5.46	0.80206	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.112238	0.64402	D	0.000014	D	0.98337	0.9448	L	0.56769	1.78	0.46954	D	0.999266	P	0.35872	0.525	B	0.32583	0.148	D	0.99968	1.1900	10	0.19590	T	0.45	.	19.3118	0.94189	0.0:1.0:0.0:0.0	.	508	Q6MZM0	HPHL1_HUMAN	V	508	ENSP00000313699:A508V	ENSP00000313699:A508V	A	+	2	0	HEPHL1	93448006	1.000000	0.71417	0.959000	0.39883	0.802000	0.45316	5.618000	0.67722	2.548000	0.85928	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	1	0	1	20	96	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999973e-01	20	95	0	19	2								-13.311650	1	1	120802	1	32	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999852	0.990000	1	9.900000e-01	1
HEPHL1	341208	broad.mit.edu	37	11	93815642	93815642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93815642G>A	ENST00000315765.9	+	10	1783	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1			61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)			AATCTGAGCAGATATTTTGAT	0.358000																								0							SO:0001583	missense			ENST00000315765.9	1	1	hg19	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967790	0.53507	.	.	ENSG00000181333	ENST00000315765	D	0.99745	-6.61	5.59	4.49	0.54785	Cupredoxin (2);	0.400573	0.30036	N	0.010571	D	0.98292	0.9434	L	0.29908	0.895	0.23563	N	0.997405	B	0.14438	0.01	B	0.17098	0.017	D	0.95455	0.8538	10	0.54805	T	0.06	.	11.0203	0.47713	0.0777:0.0:0.79:0.1323	.	592	Q6MZM0	HPHL1_HUMAN	K	592	ENSP00000313699:R592K	ENSP00000313699:R592K	R	+	2	0	HEPHL1	93455290	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.150000	0.64869	2.628000	0.89032	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	1	0	1	25	116	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999999e-01	25	115	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
HEPHL1	341208	broad.mit.edu	37	11	93826709	93826709	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93826709C>T	ENST00000315765.9	+	13	2345	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1			61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)			ATTGGATTGGCTCTCAGTACA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000315765.9	1	1	hg19	CCDS44710.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	1	0	1	119	667	0	154		0	0	0	0	154	2		0	0	0	0	0	2	1	1	118	658	0	154	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRE11A	4361	broad.mit.edu	37	11	94192582	94192582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94192582C>T	ENST00000323929.3	-	13	1714	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N|MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)			29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)			ACCTCCTCATCGATTTTGTCT	0.358000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder															0							SO:0001583	missense	Familial Cancer Database	ATLD	ENST00000323929.3	1	1	hg19	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273580	0.59649	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.75821	-0.97;-0.97;-0.95;-0.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.61703	1.905	0.80722	D	1	B;B;B	0.21753	0.06;0.058;0.06	B;B;B	0.19148	0.016;0.024;0.022	T	0.67608	-0.5627	10	0.30854	T	0.27	-27.8191	20.0493	0.97618	0.0:1.0:0.0:0.0	.	501;498;498	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	N	498;501;498;498	ENSP00000325863:D498N;ENSP00000385614:D501N;ENSP00000326094:D498N;ENSP00000376933:D498N	ENSP00000325863:D498N	D	-	1	0	MRE11A	93832230	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	7.695000	0.84257	2.745000	0.94114	0.491000	0.48974	GAT		TCGA-IB-7651-01A-11D-2154-08	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	1	0	1	60	309	0	55	1	9.949537e-01	15	29	0	55	2		0	0	0	0	0	2	1	1	60	305	0	55	2								-3.238327	1	1	121410	2	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD49	54851	broad.mit.edu	37	11	94231498	94231498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94231498C>T	ENST00000544612.1	+	3	1017	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49			12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			AACAAAAGGCCTCTTGACCCC	0.493000													Melanoma(113;823 1621 4352 9582 22033)											0							SO:0001583	missense			ENST00000544612.1	1	1	hg19	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556860	0.65425	.	.	ENSG00000168876	ENST00000544612;ENST00000302755	T;T	0.70631	-0.5;-0.5	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.341802	0.30695	N	0.009080	T	0.75766	0.3894	M	0.63428	1.95	0.31341	N	0.683661	D	0.61697	0.99	P	0.54759	0.76	T	0.80134	-0.1509	10	0.87932	D	0	-3.3387	9.9303	0.41519	0.0:0.8141:0.0:0.1859	.	174	Q8WVL7	ANR49_HUMAN	F	174	ENSP00000440396:L174F;ENSP00000303518:L174F	ENSP00000303518:L174F	L	+	1	0	ANKRD49	93871146	0.980000	0.34600	0.974000	0.42286	0.923000	0.55619	2.210000	0.42816	2.780000	0.95670	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	1	0	1	59	272	0	55	1	9.991113e-01	20	31	0	55	2		0	0	0	0	0	2	1	1	58	265	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FUT4	2526	broad.mit.edu	37	11	94278557	94278557	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94278557G>T	ENST00000358752.2	+	1	1541	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)			8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			GCAGCACCTGGATTATATCAC	0.667000																								0							SO:0001583	missense			ENST00000358752.2	1	1	hg19	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650391	0.87958	.	.	ENSG00000196371	ENST00000358752	T	0.69926	-0.44	4.74	4.74	0.60224	.	0.000000	0.85682	U	0.000000	D	0.85708	0.5759	M	0.94101	3.495	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.89439	0.3722	10	0.87932	D	0	.	14.5742	0.68235	0.0:0.0:0.8535:0.1465	.	420	P22083	FUT4_HUMAN	Y	420	ENSP00000351602:D420Y	ENSP00000351602:D420Y	D	+	1	0	FUT4	93918205	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.770000	0.85390	2.339000	0.79563	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	1	0	0	51	193	0	39	1	9.983577e-01	10	30	0	39	2		0	0	0	0	0	2	1	1	51	193	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIWIL4	143689	broad.mit.edu	37	11	94310447	94310447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94310447C>A	ENST00000299001.6	+	4	513	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4			30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			TCTTCAGGTTCCAGTGGAATA	0.328000																								0							SO:0001583	missense			ENST00000299001.6	1	1	hg19	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884465	0.72410	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.15487	2.42;2.42	5.28	5.28	0.74379	.	0.194570	0.33938	N	0.004404	T	0.36744	0.0978	M	0.79475	2.455	0.80722	D	1	D	0.52996	0.957	P	0.52627	0.704	T	0.19976	-1.0289	10	0.87932	D	0	-21.238	17.8577	0.88771	0.0:1.0:0.0:0.0	.	101	Q7Z3Z4	PIWL4_HUMAN	Y	101;32	ENSP00000299001:S101Y;ENSP00000440499:S32Y	ENSP00000299001:S101Y	S	+	2	0	PIWIL4	93950095	0.986000	0.35501	1.000000	0.80357	0.857000	0.48899	1.039000	0.30266	2.746000	0.94184	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	1	0	1	34	227	0	35	1	1.859171e-01	2	4	0	35	2		0	0	0	0	0	2	1	1	34	224	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999630	0.990000	1	9.900000e-01	1
AMOTL1	154810	broad.mit.edu	37	11	94533141	94533141	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94533141G>T	ENST00000433060.2	+	3	926	c.785G>T	c.(784-786)aGc>aTc	p.S262I	AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I|AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1			36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)			CGCTCGCTCAGCGAGAGAATC	0.622000																								0							SO:0001583	missense			ENST00000433060.2	1	1	hg19	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839201	0.71373	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.19938	2.11;2.11;2.11	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.56123	-0.8031	9	.	.	.	-15.7647	18.5608	0.91100	0.0:0.0:1.0:0.0	.	212;262	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	I	212;268;262;262	ENSP00000320968:S212I;ENSP00000323474:S262I;ENSP00000387739:S262I	.	S	+	2	0	AMOTL1	94172789	1.000000	0.71417	0.938000	0.37757	0.941000	0.58515	9.625000	0.98406	2.395000	0.81488	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	1	0	1	62	280	0	66	0	9.744994e-01	0	29	0	66	2		0	0	0	0	0	2	1	1	62	278	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMOTL1	154810	broad.mit.edu	37	11	94554837	94554837	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94554837G>A	ENST00000433060.2	+	4	1404	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Silent_p.P371P|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1			36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)			CACAGCCCCCGCCTGCCGCCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000433060.2	1	1	hg19	CCDS44712.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	1	0	1	44	184	0	41	0	9.988373e-01	1	45	0	41	2		0	0	0	0	0	2	1	1	40	176	0	38	2								-20.000000	1	1	120958	25	42	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMOTL1	154810	broad.mit.edu	37	11	94602523	94602523	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94602523C>T	ENST00000433060.2	+	12	2790	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	AMOTL1_ENST00000317837.9_Silent_p.A470A|AMOTL1_ENST00000317829.8_Silent_p.A833A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1			36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)			ACAAGAGTGCCGAGCTCTTCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000433060.2	0	1	hg19	CCDS44712.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	1	0	1	11	84	0	13	0	9.808296e-01	0	55	0	13	2		0	0	0	0	0	2	1	9.986691e-01	11	84	0	13	2								-18.152200	1	1	121174	2	17	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.740000	1.000000	1.000000	0.979465	0.990000	1	9.900000e-01	1
KDM4D	55693	broad.mit.edu	37	11	94731619	94731619	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731619G>A	ENST00000335080.5	+	3	1915	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	KDM4D_ENST00000536741.1_Silent_p.Q361Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D			30					TGAGCACCCAGAAGGAAGTCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000335080.5	1	1	hg19	CCDS8302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	1	0	1	37	187	0	45	0	7.652723e-02	0	3	0	45	2		0	0	0	0	0	2	1	1	37	184	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
KDM4D	55693	broad.mit.edu	37	11	94731922	94731922	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731922T>G	ENST00000335080.5	+	3	2218	c.1386T>G	c.(1384-1386)gcT>gcG	p.A462A	KDM4D_ENST00000536741.1_Silent_p.A462A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D			30					AACTGAGAGCTCAGGAGCTGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000335080.5	1	1	hg19	CCDS8302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	1	0	1	87	317	0	81	0	0	1	0	0	81	2		0	0	0	0	0	2	1	1	87	312	0	81	2								-20.000000	1	0	121410	9	44	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SESN3	143686	broad.mit.edu	37	11	94908712	94908712	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94908712T>C	ENST00000536441.1	-	9	1678	c.1342A>G	c.(1342-1344)Aca>Gca	p.T448A	SESN3_ENST00000278499.2_Missense_Mutation_p.T309A|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3			16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			ATGCGTTTTGTAGTTCTCTCA	0.368000																								0							SO:0001583	missense			ENST00000536441.1	1	1	hg19	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539931	0.45176	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.30981	1.51;1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.992;0.994	T	0.70219	-0.4932	10	0.72032	D	0.01	0.0717	15.2678	0.73675	0.0:0.0:0.0:1.0	.	309;448	B7Z7P9;P58005	.;SESN3_HUMAN	A	448;309	ENSP00000441927:T448A;ENSP00000278499:T309A	ENSP00000278499:T309A	T	-	1	0	SESN3	94548360	1.000000	0.71417	0.950000	0.38849	0.184000	0.23303	7.365000	0.79537	2.192000	0.70111	0.528000	0.53228	ACA		TCGA-IB-7651-01A-11D-2154-08	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	1	0	1	70	323	0	99	1	9.920700e-01	5	32	0	99	2		0	0	0	0	0	2	1	1	70	315	0	96	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SESN3	143686	broad.mit.edu	37	11	94924617	94924617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924617C>T	ENST00000536441.1	-	3	629	c.293G>A	c.(292-294)cGc>cAc	p.R98H	SESN3_ENST00000393234.1_Missense_Mutation_p.R98H|SESN3_ENST00000278499.2_Missense_Mutation_p.R20H|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|SESN3_ENST00000537480.1_5'Flank	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	p.R98L(1)		16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			ACCATCCATGCGCAACATGTA	0.443000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000536441.1	1	1	hg19	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530975	0.45073	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	L	0.43757	1.38	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.71414	0.899;0.973;0.93	T	0.03240	-1.1057	10	0.18710	T	0.47	-2.0503	20.0953	0.97838	0.0:1.0:0.0:0.0	.	20;98;98	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	H	98;20;98;98	ENSP00000441927:R98H;ENSP00000278499:R20H;ENSP00000376926:R98H;ENSP00000407008:R98H	ENSP00000278499:R20H	R	-	2	0	SESN3	94564265	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.534000	0.53568	2.767000	0.95098	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	1	0	1	118	498	0	146	1	9.987658e-01	7	37	0	146	2		0	0	0	0	0	2	1	1	116	486	0	145	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SESN3	143686	broad.mit.edu	37	11	94924736	94924736	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924736A>G	ENST00000536441.1	-	3	510	c.174T>C	c.(172-174)cgT>cgC	p.R58R	SESN3_ENST00000393234.1_Silent_p.R58R|SESN3_ENST00000278499.2_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Silent_p.R58R|SESN3_ENST00000537480.1_5'UTR	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3			16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			GAAAGTTAGTACGTTCATCCA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000536441.1	1	1	hg19	CCDS8303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	1	0	1	61	280	0	79	1	9.208548e-01	4	18	0	79	2		0	0	0	0	0	2	1	1	59	274	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM76B	143684	broad.mit.edu	37	11	95519306	95519306	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95519306G>A	ENST00000358780.5	-	4	652	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W|FAM76B_ENST00000538047.1_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B			3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			TCCTCCTTCCGATCAAAAGCA	0.353000																								0							SO:0001583	missense			ENST00000358780.5	1	1	hg19	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026245	0.93518	0.0	1.18E-4	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85294	0.1069	9	0.87932	D	0	-4.671	20.4008	0.98991	0.0:0.0:1.0:0.0	.	114	Q5HYJ3	FA76B_HUMAN	W	114	.	ENSP00000351631:R114W	R	-	1	2	FAM76B	95158954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.305000	0.72805	2.826000	0.97356	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	0	0	1	105	579	1	96	1	9.713439e-01	21	33	1	96	4		0	0	0	0	0	2	1	1	104	567	1	96	22								-3.018190	1	1	121058	3	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR2	8898	broad.mit.edu	37	11	95582947	95582947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95582947C>T	ENST00000346299.5	-	9	1224	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q|MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Missense_Mutation_p.R223Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2			19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			TTCTTTGCTTCGCTTTCCACT	0.413000																								0							SO:0001583	missense			ENST00000346299.5	1	1	hg19	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121352	0.94385	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.17	4.26	0.50523	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	H	0.97023	3.925	0.80722	D	1	P;P	0.52577	0.954;0.954	B;P	0.47206	0.436;0.541	D	0.97125	0.9814	10	0.87932	D	0	.	13.854	0.63515	0.0:0.9256:0.0:0.0744	.	295;295	A8K5G2;Q13614	.;MTMR2_HUMAN	Q	295;223;223;223;223;278	ENSP00000345752:R295Q;ENSP00000376915:R223Q;ENSP00000386882:R223Q;ENSP00000343737:R223Q;ENSP00000396020:R223Q	ENSP00000345752:R295Q	R	-	2	0	MTMR2	95222595	0.998000	0.40836	0.892000	0.35008	0.982000	0.71751	7.755000	0.85180	1.169000	0.42739	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	0	0	0	20	619	0	107	1	9.409255e-01	3	146	0	107	2		0	0	0	0	0	2	1	9.999937e-01	19	604	0	105	2								-3.020314	1	1	121412	1	36	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.370000	0.230000	1.000000	0.370000	0.407571	0.370000	0	2.900000e-01	4.800000e-01
MAML2	84441	broad.mit.edu	37	11	95712362	95712362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95712362G>A	ENST00000524717.1	-	5	4505	c.3221C>T	c.(3220-3222)aCg>aTg	p.T1074M		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)			GTTGATGCCCGTCCTCGACTG	0.507000			T	MECT1, CRTC3	salivary gland mucoepidermoid										Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0							SO:0001583	missense			ENST00000524717.1	0	1	hg19	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623922	0.46840	0.0	1.2E-4	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.46819	0.86;0.86	5.4	5.4	0.78164	.	0.110599	0.40818	N	0.001007	T	0.50086	0.1595	N	0.22421	0.69	0.31327	N	0.685315	D	0.76494	0.999	P	0.57846	0.828	T	0.57551	-0.7792	10	0.66056	D	0.02	-17.2867	14.6894	0.69072	0.0:0.0:1.0:0.0	.	1074	Q8IZL2	MAML2_HUMAN	M	1074	ENSP00000434552:T1074M;ENSP00000412394:T1074M	ENSP00000412394:T1074M	T	-	2	0	MAML2	95352010	1.000000	0.71417	0.969000	0.41365	0.343000	0.28985	4.423000	0.59861	2.527000	0.85204	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1	0	0	0	8	293	0	74	0	7.202926e-01	1	91	0	74	2		0	0	0	0	0	2	1	9.885736e-01	8	286	0	73	2								-3.478100	1	1	120888	7	40	1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.330000	0.150000	1.000000	0.310000	0.370255	0.330000	0	2.300000e-01	4.800000e-01
MAML2	84441	broad.mit.edu	37	11	95713041	95713041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95713041G>T	ENST00000524717.1	-	5	3826	c.2542C>A	c.(2542-2544)Ctc>Atc	p.L848I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)			GTAGACAGGAGGCTGGAATTG	0.423000			T	MECT1, CRTC3	salivary gland mucoepidermoid										Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0							SO:0001583	missense			ENST00000524717.1	1	1	hg19	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289942	0.40494	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	.	0.105832	0.41294	D	0.000913	T	0.57286	0.2043	L	0.29908	0.895	0.35936	D	0.832882	D	0.63880	0.993	D	0.68483	0.958	T	0.59621	-0.7420	10	0.30078	T	0.28	-17.0723	19.1576	0.93517	0.0:0.0:1.0:0.0	.	848	Q8IZL2	MAML2_HUMAN	I	848	ENSP00000434552:L848I;ENSP00000412394:L848I	ENSP00000412394:L848I	L	-	1	0	MAML2	95352689	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.101000	0.64566	2.598000	0.87819	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1	0	0	1	60	205	1	46	1	9.982960e-01	12	64	1	46	7		0	0	0	0	0	2	1	9.999999e-01	57	197	1	46	18								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAML2	84441	broad.mit.edu	37	11	95825100	95825100	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95825100G>A	ENST00000524717.1	-	2	3379	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)			CCTGCAATGGGCTGATTCTGC	0.478000			T	MECT1, CRTC3	salivary gland mucoepidermoid										Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0							SO:0001583	missense			ENST00000524717.1	0	1	hg19	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	1.383	-0.583013	0.03827	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.43688	0.94;0.94	5.44	2.32	0.28847	.	0.300651	0.27749	N	0.018011	T	0.22003	0.0530	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13818	-1.0495	10	0.27082	T	0.32	-1.027	4.0119	0.09626	0.2704:0.2275:0.5021:0.0	.	699	Q8IZL2	MAML2_HUMAN	S	699	ENSP00000434552:P699S;ENSP00000412394:P699S	ENSP00000412394:P699S	P	-	1	0	MAML2	95464748	0.895000	0.30542	0.002000	0.10522	0.111000	0.19643	0.223000	0.17719	0.147000	0.19030	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1	0	0	0	4	86	0	14	1	6.680330e-01	2	45	0	14	2	0	3.506311e-03	0	2	0	1	2	1	8.866301e-01	4	84	0	14	2								-3.875759	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.580000	0.200000	1.000000	1.000000	0.609918	0.580000	0	3.500000e-01	9.100000e-01
CCDC82	79780	broad.mit.edu	37	11	96092228	96092228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96092228C>T	ENST00000278520.5	-	8	1923	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82			19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			TGTTCATCTTCAACTTCTTCT	0.348000																								0							SO:0001583	missense			ENST00000278520.5	1	1	hg19	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100002	0.20552	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.24908	1.83;1.83;1.83	5.78	4.86	0.63082	.	0.181349	0.46758	N	0.000262	T	0.25419	0.0618	L	0.54323	1.7	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.13575	-1.0504	10	0.27082	T	0.32	-12.0923	13.1438	0.59450	0.0:0.8154:0.116:0.0686	.	499	Q8N4S0	CCD82_HUMAN	K	499	ENSP00000278520:E499K;ENSP00000444010:E499K;ENSP00000397156:E499K	ENSP00000278520:E499K	E	-	1	0	CCDC82	95731876	0.061000	0.20836	0.132000	0.22025	0.707000	0.40811	1.190000	0.32126	0.919000	0.36945	-0.797000	0.03246	GAA		TCGA-IB-7651-01A-11D-2154-08	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	1	0	1	107	404	0	98	1	1	28	78	0	98	2		0	0	0	0	0	2	1	1	103	399	0	97	2								-20.000000	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC82	79780	broad.mit.edu	37	11	96098310	96098310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96098310C>T	ENST00000278520.5	-	7	1642	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CCDC82_ENST00000423339.2_Missense_Mutation_p.R405Q|CCDC82_ENST00000542662.1_Missense_Mutation_p.R405Q			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82			19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)			ATTTTCTACTCGCTCCTGaaa	0.289000																								0							SO:0001583	missense			ENST00000278520.5	0	1	hg19	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829599	0.71258	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.44083	0.93;0.93;0.93	5.72	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.61274	0.2334	M	0.66939	2.045	0.47476	D	0.999434	D	0.89917	1.0	D	0.80764	0.994	T	0.62661	-0.6807	10	0.48119	T	0.1	-3.3533	13.5099	0.61506	0.0:0.9237:0.0:0.0763	.	405	Q8N4S0	CCD82_HUMAN	Q	405	ENSP00000278520:R405Q;ENSP00000444010:R405Q;ENSP00000397156:R405Q	ENSP00000278520:R405Q	R	-	2	0	CCDC82	95737958	1.000000	0.71417	0.991000	0.47740	0.530000	0.34684	4.941000	0.63540	1.424000	0.47217	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	0	0	0	5	155	0	34	0	5.609279e-01	1	53	0	34	2		0	0	0	0	0	2	1	9.364683e-01	5	153	0	34	2								-3.122003	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.400000	0.150000	1.000000	0.360000	0.446145	0.400000	0	2.500000e-01	6.200000e-01
SWAP70	23075	broad.mit.edu	37	11	9746232	9746232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9746232G>A	ENST00000318950.6	+	4	545	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit			11					GAAGCTTACAGAAGCTATGGG	0.303000																								0							SO:0001583	missense			ENST00000318950.6	1	1	hg19	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702741	0.68501	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.11277	2.79;2.79	5.51	5.51	0.81932	.	0.164685	0.64402	D	0.000018	T	0.18341	0.0440	L	0.54323	1.7	0.58432	D	0.999998	P;P;D	0.58268	0.956;0.546;0.982	P;B;P	0.47603	0.453;0.073;0.551	T	0.01124	-1.1444	10	0.28530	T	0.3	-16.6408	19.4051	0.94644	0.0:0.0:1.0:0.0	.	90;148;90	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	K	90;148	ENSP00000399056:E90K;ENSP00000315630:E148K	ENSP00000315630:E148K	E	+	1	0	SWAP70	9702808	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.823000	0.99369	2.586000	0.87340	0.467000	0.42956	GAA		TCGA-IB-7651-01A-11D-2154-08	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	1	0	1	41	205	0	60	1	9.999998e-01	13	109	0	60	2		0	0	0	0	0	2	1	1	41	202	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SWAP70	23075	broad.mit.edu	37	11	9761736	9761736	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9761736G>T	ENST00000318950.6	+	9	1300	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit			11					AGATCAGACAGCAGATGGAAG	0.493000																								0							SO:0001583	missense			ENST00000318950.6	1	1	hg19	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494561	0.64186	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.20200	2.09;2.09	5.25	4.28	0.50868	.	0.189996	0.48286	D	0.000184	T	0.15825	0.0381	N	0.24115	0.695	0.51482	D	0.99992	P;P;P	0.50943	0.94;0.612;0.641	P;B;B	0.44732	0.459;0.172;0.259	T	0.01007	-1.1483	10	0.46703	T	0.11	-16.3576	9.916	0.41434	0.074:0.0:0.7874:0.1386	.	341;399;341	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	H	341;399	ENSP00000399056:Q341H;ENSP00000315630:Q399H	ENSP00000315630:Q399H	Q	+	3	2	SWAP70	9718312	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.051000	0.49885	2.445000	0.82738	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	1	0	1	39	163	0	42	1	1	36	160	0	42	2		0	0	0	0	0	2	1	1	39	157	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SBF2	81846	broad.mit.edu	37	11	9874236	9874236	+	Missense_Mutation	SNP	G	G	A	rs143887793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9874236G>A	ENST00000256190.8	-	21	2734	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2			48					CTGAATAGGCGGAAGTCTTCT	0.418000																								0							SO:0001583	missense			ENST00000256190.8	1	1	hg19	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604129	0.87157	0.0	1.16E-4	ENSG00000133812	ENST00000256190	D	0.89552	-2.53	6.03	5.12	0.69794	.	0.046259	0.85682	D	0.000000	D	0.92996	0.7771	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93548	0.6884	10	0.66056	D	0.02	.	15.3416	0.74303	0.0665:0.0:0.9335:0.0	.	866	Q86WG5	MTMRD_HUMAN	L	866	ENSP00000256190:P866L	ENSP00000256190:P866L	P	-	2	0	SBF2	9830812	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	1.569000	0.49696	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	1	0	1	123	515	0	127	1	9.996646e-01	3	48	0	127	2		0	0	0	0	0	2	1	1	120	504	0	125	2								-2.702259	1	1	121412	2	38	1	1	2	3	1.993097	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN5	53942	broad.mit.edu	37	11	99690411	99690411	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690411T>G	ENST00000524871.1	+	4	482	c.192T>G	c.(190-192)gcT>gcG	p.A64A	CNTN5_ENST00000528682.1_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Silent_p.A64A|CNTN5_ENST00000527185.1_Silent_p.A64A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5			81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)			CACTGAGTGCTTCTTCACCCA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000524871.1	0	1	hg19	CCDS53696.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	0	0	0	35	276	0	64		0	0	0	0	64	2		0	0	0	0	0	2		0	0	0	0	0	2								-14.373850	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.950000	1.000000	1.000000	0.997092	0.990000	1	9.900000e-01	1
CNTN5	53942	broad.mit.edu	37	11	99690413	99690413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690413C>T	ENST00000524871.1	+	4	484	c.194C>T	c.(193-195)tCt>tTt	p.S65F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5			81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)			CTGAGTGCTTCTTCACCCAGC	0.428000																								0							SO:0001583	missense			ENST00000524871.1	1	1	hg19	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575017	0.28092	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56444	0.46;0.53;0.53;0.53	4.74	3.8	0.43715	.	0.334642	0.24894	N	0.034757	T	0.42131	0.1189	N	0.19112	0.55	0.37224	D	0.905385	P;P	0.46277	0.875;0.79	P;B	0.44732	0.459;0.276	T	0.50250	-0.8850	10	0.42905	T	0.14	.	13.9622	0.64188	0.153:0.8469:0.0:0.0	.	65;65	E9PKE8;O94779	.;CNTN5_HUMAN	F	65	ENSP00000433575:S65F;ENSP00000436185:S65F;ENSP00000435637:S65F;ENSP00000279463:S65F	ENSP00000279463:S65F	S	+	2	0	CNTN5	99195623	0.904000	0.30761	0.996000	0.52242	0.267000	0.26476	1.828000	0.39111	1.266000	0.44231	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	1	0	0	30	272	0	64		0	0	0	0	64	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.810000	1.000000	1.000000	0.983905	0.990000	1	9.800000e-01	1
CNTN5	53942	broad.mit.edu	37	11	99872819	99872819	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99872819A>G	ENST00000524871.1	+	9	1221	c.931A>G	c.(931-933)Aca>Gca	p.T311A	CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A|CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5			81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)			TTTCACGGTTACAGCTGCTAA	0.338000																								0							SO:0001583	missense			ENST00000524871.1	1	1	hg19	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807120	0.50421	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.68	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106561	0.64402	D	0.000003	T	0.67344	0.2883	L	0.46614	1.455	0.40422	D	0.979856	P;P;P	0.46621	0.722;0.856;0.881	P;P;P	0.53450	0.601;0.466;0.726	T	0.62685	-0.6802	10	0.18276	T	0.48	.	10.7406	0.46152	0.9256:0.0:0.0744:0.0	.	311;237;311	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	A	311;311;311;237;311	ENSP00000433575:T311A;ENSP00000436185:T311A;ENSP00000435637:T311A;ENSP00000393229:T237A;ENSP00000279463:T311A	ENSP00000279463:T311A	T	+	1	0	CNTN5	99378029	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.319000	0.65835	0.989000	0.38761	0.482000	0.46254	ACA		TCGA-IB-7651-01A-11D-2154-08	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	1	0	1	13	63	0	16	0	0	0	1	0	16	2		0	0	0	0	0	2	1	9.996963e-01	13	63	0	16	2								-19.999810	1	1	0	0		1	1	2	3	1.991067	0	0.170000	2.060000	1.735126e-01	0.990000	0.990000	1.000000	1.000000	0.998738	0.990000	1	9.900000e-01	1
CLEC2B	9976	broad.mit.edu	37	12	10005919	10005919	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10005919A>G	ENST00000228438.2	-	5	1363	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B			5					CTTTTCCTGCAAATCCATTTT	0.368000																								0							SO:0001583	missense			ENST00000228438.2	1	1	hg19	CCDS8605.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657279	0.29425	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	D;D	0.97688	-4.49;-4.49	2.94	2.94	0.34122	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.47093	D	0.000257	D	0.98861	0.9615	H	0.95884	3.735	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98563	1.0642	10	0.87932	D	0	.	7.7084	0.28663	1.0:0.0:0.0:0.0	.	144	Q92478	CLC2B_HUMAN	R	144;75	ENSP00000228438:C144R;ENSP00000437946:C75R	ENSP00000228438:C144R	C	-	1	0	CLEC2B	9897186	0.996000	0.38824	0.958000	0.39756	0.154000	0.21943	2.948000	0.49066	1.604000	0.50143	0.528000	0.53228	TGC		TCGA-IB-7651-01A-11D-2154-08	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399881.1	1	0	1	37	161	0	56	1	1	34	157	0	56	2		0	0	0	0	0	2	1	1	36	161	0	56	2								-19.997630	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
UHRF1BP1L	23074	broad.mit.edu	37	12	100444940	100444940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100444940C>T	ENST00000279907.7	-	16	3696	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like			50					TGTAGGTTTGCACCAGCATTC	0.353000																								0							SO:0001583	missense			ENST00000279907.7	1	1	hg19	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147265	0.09134	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09630	2.96;2.96	5.03	1.85	0.25348	.	1.509740	0.03722	N	0.252075	T	0.10895	0.0266	L	0.47716	1.5	0.09310	N	0.999999	B	0.18863	0.031	B	0.18263	0.021	T	0.38693	-0.9649	10	0.16420	T	0.52	-0.7108	5.7213	0.17988	0.1524:0.6682:0.0:0.1793	.	1162	A0JNW5	UH1BL_HUMAN	T	1162;812	ENSP00000279907:A1162T;ENSP00000444824:A812T	ENSP00000279907:A1162T	A	-	1	0	UHRF1BP1L	98969071	0.030000	0.19436	0.011000	0.14972	0.009000	0.06853	1.106000	0.31098	0.457000	0.26962	-0.355000	0.07637	GCA		TCGA-IB-7651-01A-11D-2154-08	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	1	0	1	90	318	0	63	1	9.999999e-01	28	58	0	63	2		0	0	0	0	0	2	1	1	88	316	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGA2B	0	broad.mit.edu	37	12	100550600	100550600	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100550600C>A	ENST00000397112.4	-	0	2221				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN				4					CAAGGCTCACCTCACAAAGAT	0.597000																								0											ENST00000397112.4	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2	0	0	0	9	88	0	10	0	3.069307e-02	0	3	0	10	2		0	0	0	0	0	2	1	9.941590e-01	8	86	0	9	2								-15.408420	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.560000	1.000000	1.000000	0.933308	0.990000	1	8.100000e-01	1
DEPDC4	120863	broad.mit.edu	37	12	100656045	100656045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100656045C>T	ENST00000416321.1	-	3	699	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4			15					AAATTACCTTCTTTTGAAAGC	0.338000																								0							SO:0001583	missense			ENST00000416321.1	1	1	hg19	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	C	7.704	0.693806	0.15039	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.35789	1.33;1.29;1.6;1.34	4.36	3.34	0.38264	.	1.536140	0.05008	N	0.470470	T	0.18467	0.0443	N	0.04203	-0.255	0.24219	N	0.995446	B;B;B;B	0.18310	0.0;0.0;0.027;0.004	B;B;B;B	0.13407	0.001;0.001;0.009;0.003	T	0.22417	-1.0217	10	0.27785	T	0.31	.	5.0182	0.14347	0.0:0.6158:0.0:0.3842	.	233;233;166;233	E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.;.;.;DEPD4_HUMAN	K	233;166;233;233;166;226	ENSP00000396234:E233K;ENSP00000448385:E233K;ENSP00000448338:E166K;ENSP00000449590:E226K	ENSP00000367490:E233K	E	-	1	0	DEPDC4	99180176	0.999000	0.42202	0.994000	0.49952	0.900000	0.52787	0.369000	0.20416	0.678000	0.31325	0.514000	0.50259	GAA		TCGA-IB-7651-01A-11D-2154-08	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	1	0	1	46	192	0	22	1	3.344950e-01	4	2	0	22	2		0	0	0	0	0	2	1	1	46	192	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCYL2	55681	broad.mit.edu	37	12	100707216	100707216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100707216C>A	ENST00000360820.2	+	7	1306	c.869C>A	c.(868-870)tCt>tAt	p.S290Y		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)			41					CGTTTAGGATCTAGTTCACTT	0.294000																								0							SO:0001583	missense			ENST00000360820.2	0	1	hg19	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	6.279	0.419668	0.11928	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.73575	-0.76;-0.76	5.87	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.165039	0.56097	D	0.000031	T	0.68778	0.3038	L	0.58810	1.83	0.54753	D	0.999986	B	0.20164	0.042	B	0.23018	0.043	T	0.64984	-0.6278	10	0.02654	T	1	.	17.2775	0.87120	0.0:0.8745:0.1255:0.0	.	290	Q6P3W7	SCYL2_HUMAN	Y	290;117;290	ENSP00000448366:S290Y;ENSP00000354061:S290Y	ENSP00000258506:S117Y	S	+	2	0	SCYL2	99231347	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.285000	0.58989	1.507000	0.48752	-0.196000	0.12772	TCT		TCGA-IB-7651-01A-11D-2154-08	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	0	0	0	6	214	0	37	1	8.193572e-01	4	110	0	37	2		0	0	0	0	0	2	1	9.625091e-01	6	208	0	36	2								-3.615745	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.350000	0.140000	1.000000	0.310000	0.406348	0.350000	0	2.300000e-01	5.400000e-01
SCYL2	55681	broad.mit.edu	37	12	100723037	100723037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100723037C>T	ENST00000360820.2	+	13	2138	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)			41					AGCAGCTGGCCGGAAAAGTGT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000360820.2	1	1	hg19	CCDS9076.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	1	0	1	66	295	0	56	1	1	40	119	0	56	2		0	0	0	0	0	2	1	1	65	289	0	56	2								-2.798677	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A8	246213	broad.mit.edu	37	12	100797876	100797876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100797876C>T	ENST00000323346.5	+	9	1427	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8			44					TATTGGAGGACAATTGGCTGA	0.408000																								0							SO:0001587	stop_gained			ENST00000323346.5	0	1	hg19	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	37	6.261472	0.97421	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	.	.	.	X	372;322	.	ENSP00000316909:Q372X	Q	+	1	0	SLC17A8	99322007	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.762000	0.85270	2.653000	0.90120	0.557000	0.71058	CAA		TCGA-IB-7651-01A-11D-2154-08	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	0	0	0	67	262	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	66	260	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A8	246213	broad.mit.edu	37	12	100806634	100806634	+	Nonsense_Mutation	SNP	G	G	T	rs144447013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100806634G>T	ENST00000323346.5	+	10	1586	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8			44					ACTTGCTGTAGGATTTAGTGG	0.453000																								0							SO:0001587	stop_gained			ENST00000323346.5	0	1	hg19	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	38	7.280373	0.98182	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	.	.	.	X	425;375	.	ENSP00000316909:G425X	G	+	1	0	SLC17A8	99330765	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.835000	0.99442	2.752000	0.94435	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	1	0	1	92	522	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	88	511	0	116	2								-2.879789	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR1H4	9971	broad.mit.edu	37	12	100930822	100930822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930822C>A	ENST00000551379.1	+	6	986	c.958C>A	c.(958-960)Cca>Aca	p.P320T	NR1H4_ENST00000548884.1_Missense_Mutation_p.P306T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4			44				Chenodeoxycholic acid(DB06777)	AAAAAAGCTACCAGGTATTTT	0.284000																								0							SO:0001583	missense			ENST00000551379.1	1	1	hg19	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773555	0.69992	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99345	0.9770	M	0.90705	3.14	0.80722	D	1	P;P;P;P;P	0.49185	0.764;0.92;0.597;0.649;0.919	B;P;B;B;P	0.61533	0.294;0.89;0.228;0.317;0.69	D	0.98789	1.0735	10	0.87932	D	0	.	18.1305	0.89599	0.0:1.0:0.0:0.0	.	259;320;316;310;306	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	T	306;310;259;320;316	ENSP00000448506:P306T;ENSP00000376712:P310T;ENSP00000448978:P259T;ENSP00000447149:P320T;ENSP00000188403:P316T	ENSP00000188403:P316T	P	+	1	0	NR1H4	99454953	1.000000	0.71417	0.964000	0.40570	0.555000	0.35460	7.190000	0.77755	2.318000	0.78349	0.585000	0.79938	CCA		TCGA-IB-7651-01A-11D-2154-08	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	1	0	1	89	446	0	91	0	3.977299e-01	0	8	0	91	2		0	0	0	0	0	2	1	1	88	438	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101016096G>A	ENST00000539410.1	+	8	1078	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3			35					TGTTCTCATCGATTTTCTATT	0.318000																								0							SO:0001583	missense			ENST00000539410.1	1	1	hg19	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870349	0.51588	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21543	2.0;2.0;2.02;2.0	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.22475	0.0542	N	0.05158	-0.105	0.31358	N	0.681691	D	0.56287	0.975	P	0.57283	0.817	T	0.10753	-1.0616	10	0.17369	T	0.5	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	Q	231;231;127;231	ENSP00000266754:R231Q;ENSP00000448955:R231Q;ENSP00000442406:R127Q;ENSP00000439672:R231Q	ENSP00000266754:R231Q	R	+	2	0	GAS2L3	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	1	0	1	54	186	0	75	1	8.540561e-01	6	8	0	75	2		0	0	0	0	0	2	1	1	54	186	0	75	2								-20.000000	1	1	121404	1	32	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAS2L3	283431	broad.mit.edu	37	12	101017454	101017454	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017454A>C	ENST00000539410.1	+	9	1257	c.871A>C	c.(871-873)Aaa>Caa	p.K291Q	GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q|GAS2L3_ENST00000537247.1_Missense_Mutation_p.K187Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3			35					ATTAGAACAAAAAATTTTAGC	0.403000																								0							SO:0001583	missense			ENST00000539410.1	1	1	hg19	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602846	0.87157	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.72;1.72;1.77;1.72	5.47	5.47	0.80525	Growth-arrest-specific protein 2 domain (2);	0.116335	0.64402	D	0.000017	T	0.50411	0.1614	M	0.69823	2.125	0.45515	D	0.998478	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.41790	T	0.15	-19.3779	15.5533	0.76170	1.0:0.0:0.0:0.0	.	291	Q86XJ1	GA2L3_HUMAN	Q	291;291;187;291	ENSP00000266754:K291Q;ENSP00000448955:K291Q;ENSP00000442406:K187Q;ENSP00000439672:K291Q	ENSP00000266754:K291Q	K	+	1	0	GAS2L3	99541585	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.886000	0.92447	2.087000	0.62958	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	1	0	1	100	420	0	83	1	7.030264e-01	3	9	0	83	2		0	0	0	0	0	2	1	1	98	408	0	82	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAS2L3	283431	broad.mit.edu	37	12	101017514	101017514	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017514A>C	ENST00000539410.1	+	9	1317	c.931A>C	c.(931-933)Aca>Cca	p.T311P	GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P|GAS2L3_ENST00000537247.1_Missense_Mutation_p.T207P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3			35					GCCTGCCAGAACACCTCAGCC	0.383000																								0							SO:0001583	missense			ENST00000539410.1	1	1	hg19	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066624	0.36470	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26518	1.76;1.76;1.73;1.76	5.71	3.21	0.36854	.	0.419651	0.27189	N	0.020505	T	0.22244	0.0536	L	0.54323	1.7	0.34191	D	0.672037	B	0.17038	0.02	B	0.17722	0.019	T	0.18147	-1.0346	10	0.29301	T	0.29	-10.0264	8.3763	0.32445	0.7994:0.1318:0.0688:0.0	.	311	Q86XJ1	GA2L3_HUMAN	P	311;311;207;311	ENSP00000266754:T311P;ENSP00000448955:T311P;ENSP00000442406:T207P;ENSP00000439672:T311P	ENSP00000266754:T311P	T	+	1	0	GAS2L3	99541645	0.984000	0.35163	1.000000	0.80357	0.784000	0.44337	1.268000	0.33062	0.987000	0.38709	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	1	0	1	33	374	0	72	1	7.140739e-01	8	22	0	72	2		0	0	0	0	0	2	1	1	32	360	0	72	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.970000	0.680000	1.000000	1.000000	0.926763	0.970000	1	8.100000e-01	1
ANO4	121601	broad.mit.edu	37	12	101295607	101295607	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295607T>G	ENST00000392977.3	+	2	254	c.44T>G	c.(43-45)gTc>gGc	p.V15G	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000392979.3_Missense_Mutation_p.V15G			Q32M45	ANO4_HUMAN	anoctamin 4	p.V15D(1)		78					AAAACCAAAGTCTTCCACCCA	0.468000										HNSCC(74;0.22)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000392977.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	17.67	3.447952	0.63178	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.77229	-1.08;0.95;-0.48	5.63	4.44	0.53790	.	0.427195	0.22411	N	0.060415	T	0.60663	0.2286	N	0.14661	0.345	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.14023	0.004;0.01	T	0.56619	-0.7949	10	0.87932	D	0	.	7.441	0.27183	0.0:0.2383:0.0:0.7617	.	15;15	Q32M45;Q32M45-2	ANO4_HUMAN;.	G	181;15;15	ENSP00000443751:V181G;ENSP00000376705:V15G;ENSP00000376703:V15G	ENSP00000376703:V15G	V	+	2	0	ANO4	99819738	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	1.183000	0.32041	0.905000	0.36596	0.528000	0.53228	GTC		TCGA-IB-7651-01A-11D-2154-08	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	1	0	1	101	458	0	93	0	8.765665e-02	0	3	0	93	2		0	0	0	0	0	2	1	1	101	454	0	93	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC12A	160364	broad.mit.edu	37	12	10134657	10134657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10134657G>A	ENST00000304361.4	+	5	752	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A			16					ATGACTATTGGCTGGGATTAT	0.338000													Melanoma(197;1487 2125 16611 22221 34855)											0							SO:0001587	stop_gained			ENST00000304361.4	0	1	hg19	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802655	0.31869	.	.	ENSG00000172322	ENST00000355690;ENST00000304361;ENST00000434319;ENST00000350667	.	.	.	4.31	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2605	0.31781	0.1068:0.0:0.8932:0.0	.	.	.	.	X	200;190;190;157	.	ENSP00000302804:W190X	W	+	3	0	CLEC12A	10025924	0.998000	0.40836	0.997000	0.53966	0.047000	0.14425	3.433000	0.52834	1.416000	0.47057	-0.136000	0.14681	TGG		TCGA-IB-7651-01A-11D-2154-08	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	1	0	1	24	126	0	40	0	7.194159e-01	0	15	0	40	2		0	0	0	0	0	2	1	9.999998e-01	24	125	0	40	2								-14.617510	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999429	0.990000	1	9.900000e-01	1
ANO4	121601	broad.mit.edu	37	12	101436160	101436160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101436160G>A	ENST00000392977.3	+	12	1278	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Nonsense_Mutation_p.W321*			Q32M45	ANO4_HUMAN	anoctamin 4			78					GGTTGGGCTGGTACACCGGCA	0.483000										HNSCC(74;0.22)														0							SO:0001587	stop_gained			ENST00000392977.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	40	8.414798	0.98801	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	321;356	.	ENSP00000376703:W356X	W	+	3	0	ANO4	99960291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	1	0	1	64	245	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	1	64	243	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A8	160728	broad.mit.edu	37	12	101560474	101560474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101560474C>A	ENST00000536262.2	-	12	1882	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8			47					CCAACAAGTGCTCCCTGTAAA	0.368000													GBM(60;420 1056 13605 22380 47675)											0							SO:0001583	missense			ENST00000536262.2	1	1	hg19	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449801	0.43531	.	.	ENSG00000256870	ENST00000536262	D	0.95447	-3.71	5.54	3.61	0.41365	.	0.125811	0.53938	D	0.000060	D	0.95667	0.8591	M	0.91459	3.21	0.54753	D	0.999986	B	0.30686	0.29	B	0.34931	0.192	D	0.94865	0.8025	10	0.56958	D	0.05	.	9.3499	0.38131	0.1436:0.7793:0.0:0.0771	.	442	Q8N695	SC5A8_HUMAN	S	442	ENSP00000445340:A442S	ENSP00000445340:A442S	A	-	1	0	SLC5A8	100084605	1.000000	0.71417	0.987000	0.45799	0.597000	0.36814	3.542000	0.53625	1.338000	0.45544	-0.150000	0.13652	GCA		TCGA-IB-7651-01A-11D-2154-08	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	1	0	1	15	93	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999061e-01	15	92	0	19	2								-19.999980	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.970000	1.000000	1.000000	0.996909	0.990000	1	9.900000e-01	1
SLC5A8	160728	broad.mit.edu	37	12	101576692	101576692	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101576692T>C	ENST00000536262.2	-	9	1612	c.1054A>G	c.(1054-1056)Aca>Gca	p.T352A		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8			47					GAGGACACTGTGCTGTAAGGG	0.348000													GBM(60;420 1056 13605 22380 47675)											0							SO:0001630	splice_region_variant			ENST00000536262.2	1	0	hg19	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774384	0.90108	.	.	ENSG00000256870	ENST00000536262	D	0.88741	-2.42	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96282	0.9207	10	0.87932	D	0	.	15.7376	0.77859	0.0:0.0:0.0:1.0	.	352	Q8N695	SC5A8_HUMAN	A	352	ENSP00000445340:T352A	ENSP00000445340:T352A	T	-	1	0	SLC5A8	100100823	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.972000	0.88022	2.134000	0.65973	0.528000	0.53228	ACA		TCGA-IB-7651-01A-11D-2154-08	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	1	0	0	29	255	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	29	254	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.840000	1.000000	1.000000	0.987823	0.990000	1	9.900000e-01	1
SLC5A8	160728	broad.mit.edu	37	12	101584320	101584320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101584320C>T	ENST00000536262.2	-	6	1317	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8			47					AGATGCTGGTCCATGTGAAGG	0.393000													GBM(60;420 1056 13605 22380 47675)											0							SO:0001587	stop_gained			ENST00000536262.2	0	1	hg19	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	41	8.821964	0.98966	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3842	0.74684	0.0:0.932:0.0:0.068	.	.	.	.	X	253	.	ENSP00000445340:W253X	W	-	3	0	SLC5A8	100108451	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.754000	0.68743	2.774000	0.95407	0.585000	0.79938	TGG		TCGA-IB-7651-01A-11D-2154-08	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	1	0	1	109	432	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	109	422	0	78	2								-3.666741	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC12B	387837	broad.mit.edu	37	12	10167267	10167267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10167267G>T	ENST00000338896.5	+	3	464	c.336G>T	c.(334-336)caG>caT	p.Q112H	CLEC12B_ENST00000396502.1_Missense_Mutation_p.Q112H|RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B			9					TCAAGTCACAGATCTCCAGTG	0.458000																								0							SO:0001583	missense			ENST00000338896.5	1	1	hg19	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467313	0.43839	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.17854	2.25;2.25	4.13	0.963	0.19649	C-type lectin fold (1);Ly49-like N-terminal (1);	0.508822	0.16725	N	0.202096	T	0.20700	0.0498	M	0.77313	2.365	0.22982	N	0.998474	P;P	0.36789	0.57;0.514	B;B	0.43990	0.438;0.311	T	0.12578	-1.0542	10	0.17832	T	0.49	.	3.235	0.06761	0.2275:0.0:0.5672:0.2053	.	112;112	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	H	112	ENSP00000379759:Q112H;ENSP00000344563:Q112H	ENSP00000344563:Q112H	Q	+	3	2	CLEC12B	10058534	1.000000	0.71417	0.932000	0.37286	0.819000	0.46315	1.450000	0.35134	0.477000	0.27464	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	1	0	1	57	234	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	55	223	0	51	2								-3.581087	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC12B	387837	broad.mit.edu	37	12	10168306	10168306	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10168306C>A	ENST00000338896.5	+	5	788	c.660C>A	c.(658-660)ggC>ggA	p.G220G	CLEC12B_ENST00000396502.1_Silent_p.G220G|RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B			9					GGGAAGATGGCTCTGTTCCCT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000338896.5	1	1	hg19	CCDS44830.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	1	0	1	114	427	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	111	414	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UTP20	27340	broad.mit.edu	37	12	101689296	101689296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101689296C>A	ENST00000261637.4	+	12	1464	c.1290C>A	c.(1288-1290)tgC>tgA	p.C430*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)			88					TTGTGAATTGCTTCTTAATTG	0.373000																								0							SO:0001587	stop_gained			ENST00000261637.4	0	1	hg19	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	36	5.824714	0.96989	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.06	5.06	0.68205	.	0.250704	0.43919	D	0.000519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.3695	18.4532	0.90711	0.0:1.0:0.0:0.0	.	.	.	.	X	430	.	ENSP00000261637:C430X	C	+	3	2	UTP20	100213427	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	2.366000	0.44204	2.354000	0.79902	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	1	0	1	30	99	0	37	0	7.622821e-01	0	11	0	37	2		0	0	0	0	0	2	1	1	30	99	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UTP20	27340	broad.mit.edu	37	12	101731892	101731892	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101731892T>G	ENST00000261637.4	+	30	3879	c.3705T>G	c.(3703-3705)gtT>gtG	p.V1235V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)			88					TGACCAATGTTTTTGCAATTC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000261637.4	1	1	hg19	CCDS9081.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	0	0	0	10	435	0	99	0	1.288437e-01	0	25	0	99	2		0	0	0	0	0	2	1	9.966188e-01	10	426	0	98	2								-3.424729	1	1	121412	2	34	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.280000	0.140000	1.000000	0.260000	0.334194	0.280000	0	2.000000e-01	4.000000e-01
UTP20	27340	broad.mit.edu	37	12	101760367	101760367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101760367C>T	ENST00000261637.4	+	47	6331	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)			88					AGATCCACGTCTACCACCCCA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000261637.4	1	1	hg19	CCDS9081.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	1	0	1	118	584	0	119	1	9.924145e-01	15	24	0	119	2		0	0	0	0	0	2	1	1	117	572	0	118	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYBPC1	4604	broad.mit.edu	37	12	102040565	102040565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102040565C>T	ENST00000550270.1	+	11	915	c.915C>T	c.(913-915)tgC>tgT	p.C305C	RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000549145.1_Silent_p.C318C|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000361466.2_Silent_p.C330C|MYBPC1_ENST00000553190.1_Silent_p.C305C|MYBPC1_ENST00000536007.1_Silent_p.C286C|MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000547405.1_Silent_p.C279C|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000541119.1_Silent_p.C293C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type			57					ACAAAGGATGCCAGAGAATCC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000550270.1	1	1	hg19	CCDS9085.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1	1	0	1	40	199	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	1	40	196	0	52	2								-19.992070	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MYBPC1	4604	broad.mit.edu	37	12	102056307	102056307	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102056307G>T	ENST00000550270.1	+	19	2129	c.2129G>T	c.(2128-2130)aGg>aTg	p.R710M	RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R723M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type			57					ATGCCCTCCAGGCCTTTTGTT	0.473000																								0							SO:0001583	missense			ENST00000550270.1	1	1	hg19	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549241	0.45383	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	6.01	-1.08	0.09936	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.491893	0.18148	N	0.150193	T	0.46328	0.1387	N	0.25992	0.78	0.32516	N	0.536896	P;P;B;B;B;B;P;B;P;P	0.38767	0.489;0.646;0.239;0.335;0.335;0.228;0.465;0.335;0.623;0.465	B;B;B;B;B;B;P;B;B;P	0.48189	0.375;0.305;0.139;0.264;0.367;0.192;0.501;0.367;0.353;0.57	T	0.57952	-0.7722	10	0.87932	D	0	.	10.9076	0.47088	0.6988:0.0:0.3012:0.0	.	691;698;710;710;697;684;710;710;735;735	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	M	684;710;710;710;697;696;735;723;710;735;710;691;698;735;611;710	ENSP00000448175:R684M;ENSP00000400908:R710M;ENSP00000388989:R710M;ENSP00000353822:R710M;ENSP00000376665:R697M;ENSP00000447362:R696M;ENSP00000354845:R735M;ENSP00000447660:R723M;ENSP00000447900:R710M;ENSP00000440034:R710M;ENSP00000446128:R691M;ENSP00000442847:R698M;ENSP00000354849:R735M;ENSP00000447116:R611M;ENSP00000449702:R710M	ENSP00000353822:R710M	R	+	2	0	MYBPC1	100580438	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.420000	0.44679	-0.348000	0.08286	-0.300000	0.09419	AGG		TCGA-IB-7651-01A-11D-2154-08	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1	1	0	1	87	307	0	67	1	2.164932e-01	2	2	0	67	2		0	0	0	0	0	2	1	1	84	300	0	66	2								-3.862980	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYBPC1	4604	broad.mit.edu	37	12	102067280	102067280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102067280T>G	ENST00000550270.1	+	24	2668	c.2668T>G	c.(2668-2670)Tct>Gct	p.S890A	MYBPC1_ENST00000549145.1_Missense_Mutation_p.S903A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type			57					CATTCGCAACTCTGAGACTGA	0.383000																								0							SO:0001583	missense			ENST00000550270.1	1	1	hg19	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818772	0.50633	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144208	0.32287	N	0.006318	T	0.78761	0.4334	M	0.79123	2.44	0.38230	D	0.941003	B;B;B;B;B;B;B;B;B;B	0.24317	0.006;0.051;0.101;0.025;0.013;0.089;0.023;0.028;0.094;0.004	B;B;P;B;B;P;B;B;B;B	0.48598	0.102;0.361;0.583;0.261;0.159;0.583;0.247;0.428;0.302;0.111	T	0.81300	-0.0995	10	0.87932	D	0	.	9.6098	0.39657	0.2618:0.0:0.0:0.7382	.	853;860;890;872;859;846;872;890;897;897	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	846;890;890;890;859;858;897;903;872;872;853;860;897;773;890	ENSP00000448175:S846A;ENSP00000400908:S890A;ENSP00000388989:S890A;ENSP00000353822:S890A;ENSP00000376665:S859A;ENSP00000447362:S858A;ENSP00000354845:S897A;ENSP00000447660:S903A;ENSP00000447900:S872A;ENSP00000440034:S872A;ENSP00000446128:S853A;ENSP00000442847:S860A;ENSP00000354849:S897A;ENSP00000447116:S773A;ENSP00000449702:S890A	ENSP00000353822:S890A	S	+	1	0	MYBPC1	100591411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.124000	0.64709	2.189000	0.69895	0.454000	0.30748	TCT		TCGA-IB-7651-01A-11D-2154-08	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1	0	0	1	164	747	0	220	0	0	0	1	0	220	2		0	0	0	0	0	2	1	1	161	740	0	218	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC9A	283420	broad.mit.edu	37	12	10206926	10206926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10206926G>A	ENST00000355819.1	+	5	761	c.148G>A	c.(148-150)Gca>Aca	p.A50T		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A			22					ATTATTAACAGCATCCATTTT	0.323000																								0							SO:0001583	missense			ENST00000355819.1	1	1	hg19	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920691	0.00498	.	.	ENSG00000197992	ENST00000355819	T	0.01313	5.02	3.89	-2.15	0.07102	.	0.672896	0.13056	N	0.417266	T	0.00440	0.0014	N	0.00399	-1.545	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44605	-0.9317	10	0.06365	T	0.9	.	7.9944	0.30258	0.4952:0.0:0.5048:0.0	.	50	Q6UXN8	CLC9A_HUMAN	T	50	ENSP00000348074:A50T	ENSP00000348074:A50T	A	+	1	0	CLEC9A	10098193	0.000000	0.05858	0.082000	0.20525	0.268000	0.26511	-0.467000	0.06664	-0.309000	0.08779	-0.423000	0.05987	GCA		TCGA-IB-7651-01A-11D-2154-08	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	1	0	1	30	180	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1	30	177	0	44	2								-15.452860	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999409	0.990000	1	9.900000e-01	1
CHPT1	56994	broad.mit.edu	37	12	102117041	102117041	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102117041G>A	ENST00000229266.3	+	6	1111	c.876G>A	c.(874-876)aaG>aaA	p.K292K	CHPT1_ENST00000549872.1_Silent_p.K292K	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1			10					TGTTTGAAAAGCATCCTTGTC	0.318000																								0							SO:0001819	synonymous_variant			ENST00000229266.3	1	1	hg19	CCDS9086.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	1	0	1	44	194	0	48	1	1	58	128	0	48	2		0	0	0	0	0	2	1	1	43	191	0	48	2								-3.840391	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNPTAB	79158	broad.mit.edu	37	12	102158045	102158045	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102158045A>G	ENST00000299314.7	-	13	2912	c.2650T>C	c.(2650-2652)Tac>Cac	p.Y884H	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits			37					CTATCTGTGTAATGCTGCAGC	0.393000																								0							SO:0001583	missense			ENST00000299314.7	1	1	hg19	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806642	0.50421	.	.	ENSG00000111670	ENST00000299314	D	0.96554	-4.05	5.62	0.515	0.17013	.	0.377659	0.31082	N	0.008299	D	0.92763	0.7699	L	0.59436	1.845	0.09310	N	0.999995	B	0.11235	0.004	B	0.12156	0.007	D	0.84408	0.0564	10	0.42905	T	0.14	-2.6504	5.9361	0.19167	0.6673:0.1281:0.2045:0.0	.	884	Q3T906	GNPTA_HUMAN	H	884	ENSP00000299314:Y884H	ENSP00000299314:Y884H	Y	-	1	0	GNPTAB	100682176	0.839000	0.29477	0.000000	0.03702	0.685000	0.39939	3.055000	0.49916	-0.135000	0.11495	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1	1	0	1	228	931	0	227	1	1	32	106	0	227	2		0	0	0	0	0	2	1	1	225	908	0	225	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNPTAB	79158	broad.mit.edu	37	12	102159023	102159023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102159023G>A	ENST00000299314.7	-	13	1934	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits			37					TCACCTTTTGGAATAATATAG	0.358000																								0							SO:0001583	missense			ENST00000299314.7	1	1	hg19	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313537	0.81358	.	.	ENSG00000111670	ENST00000299314	D	0.97161	-4.27	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98025	1.0373	10	0.72032	D	0.01	-16.2415	15.2943	0.73891	0.0669:0.0:0.9331:0.0	.	558	Q3T906	GNPTA_HUMAN	S	558	ENSP00000299314:P558S	ENSP00000299314:P558S	P	-	1	0	GNPTAB	100683154	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.230000	0.95299	1.536000	0.49237	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1	1	0	1	102	461	0	95	1	9.999993e-01	8	84	0	95	2		0	0	0	0	0	2	1	1	100	455	1	94	19								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP37	79023	broad.mit.edu	37	12	102468224	102468224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102468224C>T	ENST00000552283.1	-	10	1028	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	NUP37_ENST00000251074.1_Missense_Mutation_p.A297T|RP11-554E23.4_ENST00000552707.1_RNA			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa			17					GATCCAACGGCTACAGAACCC	0.383000																								0							SO:0001583	missense			ENST00000552283.1	1	0	hg19	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	2.498	-0.315945	0.05422	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T	0.30182	1.54;1.54	6.17	-5.45	0.02616	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.495874	0.25143	N	0.032818	T	0.11665	0.0284	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27806	-1.0063	10	0.15066	T	0.55	-0.5591	9.5044	0.39037	0.1564:0.1692:0.5702:0.1042	.	297	Q8NFH4	NUP37_HUMAN	T	297;297;206	ENSP00000448054:A297T;ENSP00000251074:A297T	ENSP00000251074:A297T	A	-	1	0	NUP37	100992354	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.596000	0.05720	-1.025000	0.03334	-0.818000	0.03119	GCC		TCGA-IB-7651-01A-11D-2154-08	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	1	0	0	20	132	0	36	1	9.999968e-01	47	104	0	36	2		0	0	0	0	0	2	1	9.999968e-01	20	131	0	36	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
PAH	5053	broad.mit.edu	37	12	103238180	103238180	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103238180G>T	ENST00000553106.1	-	10	1471	c.999C>A	c.(997-999)ctC>ctA	p.L333L	PAH_ENST00000307000.2_Silent_p.L328L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase			27				Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTGTTTGCAGAGCCCAAACT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000553106.1	1	1	hg19	CCDS9092.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1	1	0	1	21	125	0	45	0	4.965463e-01	0	11	0	45	2		0	0	0	0	0	2	1	9.999978e-01	21	119	0	45	2								-20.000000	1	1	0	0		1	2	2	4	2.154923	1	0.170000	2.060000	2.397875e-01	0.990000	0.990000	1.000000	1.000000	0.999833	0.990000	1	9.900000e-01	1
C12orf42	374470	broad.mit.edu	37	12	103696338	103696338	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103696338C>T	ENST00000378113.2	-	6	857		c.e6-1		C12orf42_ENST00000548048.1_Splice_Site|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Splice_Site	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42			22					GCGGCAGAACCTGGAAGGCAA	0.622000																								0							SO:0001630	splice_region_variant			ENST00000378113.2	1	1	hg19	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574459	0.45902	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	.	.	.	4.24	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7242	0.18004	0.1933:0.7017:0.0:0.105	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf42	102220468	0.971000	0.33674	0.849000	0.33467	0.259000	0.26198	1.384000	0.34396	1.075000	0.40932	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	1	0	1	45	228	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	45	228	0	39	2								-3.177804	1	1	0	0		1	2	2	4	2.154923	1	0.170000	2.060000	2.397875e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C12orf42	374470	broad.mit.edu	37	12	103700054	103700054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103700054G>T	ENST00000378113.2	-	5	554	c.329C>A	c.(328-330)cCc>cAc	p.P110H	C12orf42_ENST00000548048.1_Missense_Mutation_p.P43H|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42			22					AGAACACCTGGGGACTATGTA	0.398000																								0							SO:0001583	missense			ENST00000378113.2	0	1	hg19	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349636	0.61183	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.21	4.21	0.49690	.	0.214048	0.23758	N	0.044846	T	0.67458	0.2895	L	0.29908	0.895	0.25731	N	0.985263	D	0.89917	1.0	D	0.81914	0.995	T	0.59418	-0.7458	10	0.87932	D	0	-10.6708	12.4434	0.55637	0.0:0.0:1.0:0.0	.	110	Q96LP6	CL042_HUMAN	H	110;43;110;110	ENSP00000447908:P110H;ENSP00000449362:P43H;ENSP00000367353:P110H;ENSP00000447795:P110H	ENSP00000367353:P110H	P	-	2	0	C12orf42	102224184	0.963000	0.33076	0.643000	0.29450	0.071000	0.16799	3.419000	0.52728	2.646000	0.89796	0.449000	0.29647	CCC		TCGA-IB-7651-01A-11D-2154-08	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	1	0	0	12	113	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.992355e-01	12	112	0	17	2								-7.160316	1	1	0	0		1	2	2	4	2.154923	1	0.170000	2.060000	2.397875e-01	0.990000	0.720000	1.000000	1.000000	0.976712	0.990000	1	9.900000e-01	1
GABARAPL1	23710	broad.mit.edu	37	12	10374440	10374440	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10374440T>C	ENST00000266458.5	+	4	668	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000546017.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1			2					TGAGAGTGTCTATGGGAAATG	0.498000													Melanoma(3;46 76 4652 22680 42285)											0							SO:0001583	missense			ENST00000266458.5	1	1	hg19	CCDS8620.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622355	0.46840	.	.	ENSG00000139112	ENST00000266458;ENST00000544284;ENST00000545887;ENST00000546017;ENST00000535576;ENST00000539170	T;T;T;T;T;T	0.50813	0.79;0.73;0.79;0.73;0.73;0.73	5.43	5.43	0.79202	.	0.085531	0.50627	N	0.000110	T	0.60637	0.2284	M	0.86573	2.825	0.31322	N	0.685925	B	0.15719	0.014	B	0.34931	0.192	T	0.67948	-0.5538	10	0.87932	D	0	.	13.4361	0.61084	0.0:0.0:0.0:1.0	.	115	Q9H0R8	GBRL1_HUMAN	H	115;25;115;25;25;25	ENSP00000266458:Y115H;ENSP00000439734:Y25H;ENSP00000444186:Y115H;ENSP00000446456:Y25H;ENSP00000444738:Y25H;ENSP00000444209:Y25H	ENSP00000266458:Y115H	Y	+	1	0	GABARAPL1	10265707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.060000	0.61445	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399651.1	1	0	1	45	174	0	43	1	1	88	364	0	43	2		0	0	0	0	0	2	1	1	44	173	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB2	55576	broad.mit.edu	37	12	103984787	103984787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103984787C>T	ENST00000388887.2	+	2	398	c.194C>T	c.(193-195)tCt>tTt	p.S65F	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2			174					ACCAGTGGCTCTGTAGGGGTT	0.468000																								0							SO:0001583	missense			ENST00000388887.2	1	1	hg19	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111441	0.37242	.	.	ENSG00000136011	ENST00000388887	T	0.35421	1.31	6.02	5.11	0.69529	.	0.622630	0.16100	N	0.229582	T	0.42154	0.1190	L	0.55743	1.74	0.20489	N	0.999894	P	0.39576	0.679	B	0.43623	0.425	T	0.34453	-0.9828	10	0.56958	D	0.05	.	14.3393	0.66614	0.0:0.8517:0.1483:0.0	.	65	Q8WWQ8	STAB2_HUMAN	F	65	ENSP00000373539:S65F	ENSP00000373539:S65F	S	+	2	0	STAB2	102508917	0.029000	0.19370	0.020000	0.16555	0.007000	0.05969	2.230000	0.42999	1.500000	0.48636	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	1	133	440	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	131	428	0	99	2								-4.641956	1	0	0	0		1	2	2	4	2.154923	1	0.170000	2.060000	2.397875e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB2	55576	broad.mit.edu	37	12	104015879	104015879	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104015879C>T	ENST00000388887.2	+	5	681	c.477C>T	c.(475-477)agC>agT	p.S159S		NM_017564.9	NP_060034.9			stabilin 2			174					TTGGACCCAGCTGTTCATCAG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000388887.2	1	1	hg19	CCDS31888.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	1	45	238	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	44	230	0	48	2								-20.000000	1	1	0	0		1	2	2	4	2.154923	1	0.170000	2.060000	2.397875e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB2	55576	broad.mit.edu	37	12	104046365	104046365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104046365C>T	ENST00000388887.2	+	12	1493	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2			174					AATAAAGCTGCTCAATACTTT	0.368000																								0							SO:0001583	missense			ENST00000388887.2	1	1	hg19	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459332	0.63401	.	.	ENSG00000136011	ENST00000388887	D	0.90444	-2.67	5.82	5.82	0.92795	FAS1 domain (5);	0.063342	0.64402	D	0.000010	D	0.93504	0.7927	M	0.81682	2.555	0.45035	D	0.998059	P	0.49090	0.919	P	0.49421	0.61	D	0.93115	0.6520	10	0.48119	T	0.1	.	19.7095	0.96089	0.0:1.0:0.0:0.0	.	430	Q8WWQ8	STAB2_HUMAN	V	430	ENSP00000373539:A430V	ENSP00000373539:A430V	A	+	2	0	STAB2	102570495	0.998000	0.40836	0.859000	0.33776	0.104000	0.19210	3.887000	0.56197	2.752000	0.94435	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	0	13	302	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	9.995324e-01	13	299	0	54	2								-14.046400	1	1	0	0		1	2	2	4	2.154923	1	0.170000	2.060000	2.397875e-01	0.600000	0.310000	1.000000	0.530000	0.666907	0.600000	0	4.300000e-01	1
STAB2	55576	broad.mit.edu	37	12	104122724	104122724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104122724C>T	ENST00000388887.2	+	48	5237	c.5033C>T	c.(5032-5034)tCa>tTa	p.S1678L		NM_017564.9	NP_060034.9			stabilin 2			174					AAATTGATCTCAAATGCTACT	0.493000																								0							SO:0001583	missense			ENST00000388887.2	1	1	hg19	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	6.402	0.442319	0.12164	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90732	-2.72	5.56	5.56	0.83823	FAS1 domain (5);	0.497392	0.20561	N	0.089907	D	0.83917	0.5358	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.25614	0.062	T	0.71699	-0.4514	10	0.30078	T	0.28	.	13.868	0.63600	0.1534:0.8466:0.0:0.0	.	1678	Q8WWQ8	STAB2_HUMAN	L	1678;365	ENSP00000373539:S1678L	ENSP00000258495:S365L	S	+	2	0	STAB2	102646854	0.221000	0.23642	0.037000	0.18230	0.012000	0.07955	2.099000	0.41767	2.595000	0.87683	0.655000	0.94253	TCA		TCGA-IB-7651-01A-11D-2154-08	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	1	71	384	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	71	379	0	74	2								-3.146652	1	1	0	0		1	2	2	4	2.154923	1	0.170000	2.060000	2.397875e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB2	55576	broad.mit.edu	37	12	104133248	104133248	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104133248T>C	ENST00000388887.2	+	54	5958		c.e54+2			NM_017564.9	NP_060034.9			stabilin 2			174					AAACCAAAGGTAATTAAGACT	0.443000																								0							SO:0001630	splice_region_variant			ENST00000388887.2	1	1	hg19	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232311	0.79688	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7056	0.69189	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB2	102657378	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.203000	0.65174	2.053000	0.61076	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	0	0	1	57	246	1	53		0	0	0	1	53	2		0	0	0	0	0	2	1	9.999994e-01	56	235	1	53	18								-20.000000	1	1	0	0		1	2	2	4	2.154923	1	0.170000	2.060000	2.397875e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB2	55576	broad.mit.edu	37	12	104157272	104157272	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104157272G>A	ENST00000388887.2	+	68	7695	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	RP11-341G23.4_ENST00000550029.1_RNA|RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2	p.S2497S(1)		174					CCAAACAGTCGGAAGAGGACA	0.527000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000388887.2	1	1	hg19	CCDS31888.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	1	0	0	335	1039	0	264	0	0	0	1	0	264	2		0	0	0	0	0	2	1	1	325	1017	0	262	2								-7.244156	1	1	121412	1	42	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NT5DC3	51559	broad.mit.edu	37	12	104179235	104179235	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104179235C>A	ENST00000392876.3	-	12	1247	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3			30					GTCCTCCAGCCATGCTTTAGG	0.443000																								0							SO:0001583	missense			ENST00000392876.3	1	1	hg19	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831137	0.91036	.	.	ENSG00000111696	ENST00000392876	T	0.28666	1.6	5.46	5.46	0.80206	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78588	-0.2146	9	.	.	.	-28.532	19.3059	0.94163	0.0:1.0:0.0:0.0	.	403	Q86UY8	NT5D3_HUMAN	C	403	ENSP00000376615:G403C	.	G	-	1	0	NT5DC3	102703365	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.772000	0.85439	2.559000	0.86315	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	1	0	1	82	376	0	94	1	6.137276e-01	2	9	0	94	2		0	0	0	0	0	2	1	1	81	368	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NT5DC3	51559	broad.mit.edu	37	12	104187733	104187733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104187733C>A	ENST00000392876.3	-	7	836	c.796G>T	c.(796-798)Gca>Tca	p.A266S	NT5DC3_ENST00000465502.1_5'Flank	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3			30					GCTTCAATTGCTCTGTACATT	0.403000																								0							SO:0001583	missense			ENST00000392876.3	1	1	hg19	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140542	0.37825	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.73	5.73	0.89815	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	L	0.59436	1.845	0.80722	D	1	P	0.39216	0.664	B	0.40329	0.326	T	0.04840	-1.0923	10	0.09590	T	0.72	-20.1698	19.8991	0.96978	0.0:1.0:0.0:0.0	.	266	Q86UY8	NT5D3_HUMAN	S	266	ENSP00000376615:A266S	ENSP00000376615:A266S	A	-	1	0	NT5DC3	102711863	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	4.632000	0.61311	2.706000	0.92434	0.557000	0.71058	GCA		TCGA-IB-7651-01A-11D-2154-08	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	0	0	0	13	515	0	78	1	4.036441e-02	2	10	0	78	2		0	0	0	0	0	2	1	9.994802e-01	13	505	0	78	2								-3.110227	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.300000	0.160000	1.000000	0.290000	0.354488	0.300000	0	2.200000e-01	4.200000e-01
HSP90B1	7184	broad.mit.edu	37	12	104340598	104340598	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104340598C>A	ENST00000299767.5	+	16	2323	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1			29				Rifabutin(DB00615)	TTGGATCTTGCTGTGGTTTTG	0.353000																								0							SO:0001583	missense			ENST00000299767.5	1	1	hg19	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.508297|5.508297	0.96386|0.96386	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.50813|.	0.73|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.100176|.	0.64402|.	D|.	0.000002|.	D|D	0.91580|0.91580	0.7340|0.7340	H|H	0.98996|0.98996	4.395|4.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94221|0.94221	0.7467|0.7467	10|5	0.87932|.	D|.	0|.	.|.	20.3736|20.3736	0.98901|0.98901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	714|.	P14625|.	ENPL_HUMAN|.	D|M	714;464|65	ENSP00000299767:A714D|.	ENSP00000299767:A714D|.	A|L	+|+	2|1	0|2	HSP90B1|HSP90B1	102864728|102864728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	1	0	1	68	259	0	63	1	1	1641	3360	0	63	2		0	0	0	0	0	2	1	1	68	257	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TDG	6996	broad.mit.edu	37	12	104380828	104380828	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104380828A>G	ENST00000392872.3	+	10	1427	c.1193A>G	c.(1192-1194)cAc>cGc	p.H398R	TDG_ENST00000544861.1_Missense_Mutation_p.H255R|TDG_ENST00000542036.1_Missense_Mutation_p.H194R|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000266775.9_Missense_Mutation_p.H394R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase			24					TTTAGTAATCACTGTGGAACA	0.433000								Base excision repair (BER), DNA glycosylases																0							SO:0001583	missense			ENST00000392872.3	1	1	hg19	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	A	5.636	0.301987	0.10678	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.21543	2.33;2.33;2.34;2.0	5.86	0.0592	0.14331	.	0.355996	0.22159	N	0.063819	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.22765	-1.0207	10	0.48119	T	0.1	-7.8928	10.9276	0.47199	0.5614:0.3717:0.0669:0.0	.	194;398;398	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	R	398;394;255;194	ENSP00000376611:H398R;ENSP00000266775:H394R;ENSP00000445899:H255R;ENSP00000439054:H194R	ENSP00000266775:H394R	H	+	2	0	TDG	102904958	0.024000	0.19004	0.001000	0.08648	0.166000	0.22503	0.710000	0.25748	0.099000	0.17552	-0.353000	0.07706	CAC		TCGA-IB-7651-01A-11D-2154-08	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2	1	0	0	82	426	0	79	1	9.999816e-01	33	50	0	79	2		0	0	0	0	0	2	1	1	79	410	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HCFC2	29915	broad.mit.edu	37	12	104461826	104461826	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104461826A>C	ENST00000229330.4	+	3	518	c.414A>C	c.(412-414)aaA>aaC	p.K138N		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2			35					ATGGTAACAAATGCTATTTGT	0.413000													Esophageal Squamous(184;1814 2036 4771 6974 15702)											0							SO:0001583	missense			ENST00000229330.4	1	1	hg19	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005505	0.74932	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T;T	0.70282	-0.47;-0.33	5.45	4.15	0.48705	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	M	0.79693	2.465	0.51233	D	0.99991	D	0.76494	0.999	D	0.80764	0.994	T	0.81675	-0.0825	10	0.66056	D	0.02	-20.5373	5.5982	0.17339	0.8047:0.0:0.1953:0.0	.	138	Q9Y5Z7	HCFC2_HUMAN	N	138;49	ENSP00000229330:K138N;ENSP00000447952:K49N	ENSP00000229330:K138N	K	+	3	2	HCFC2	102985956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.377000	0.34317	2.197000	0.70478	0.402000	0.26972	AAA		TCGA-IB-7651-01A-11D-2154-08	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	1	0	1	208	836	0	161	1	9.934997e-01	6	27	0	161	2		0	0	0	0	0	2	1	1	206	820	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EID3	493861	broad.mit.edu	37	12	104697806	104697806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104697806G>A	ENST00000527879.1	+	1	290	c.94G>A	c.(94-96)Gct>Act	p.A32T	TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000524698.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3			10					GGAGCTCACCGCTGACGAGGA	0.637000																								0							SO:0001583	missense			ENST00000527879.1	1	1	hg19	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376748	0.24857	.	.	ENSG00000255150	ENST00000527879	T	0.44083	0.93	3.8	1.95	0.26073	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.13407	0.009	T	0.17319	-1.0373	9	0.14656	T	0.56	.	6.2809	0.21007	0.2155:0.0:0.7845:0.0	.	32	Q8N140	EID3_HUMAN	T	32	ENSP00000435619:A32T	ENSP00000435619:A32T	A	+	1	0	EID3	103221936	0.048000	0.20356	0.000000	0.03702	0.008000	0.06430	3.731000	0.55013	0.409000	0.25649	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	1	0	1	35	131	0	32	0	4.599631e-01	1	6	0	32	2		0	0	0	0	0	2	1	1	35	128	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST11	50515	broad.mit.edu	37	12	105151191	105151191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105151191C>T	ENST00000303694.5	+	3	1108	c.669C>T	c.(667-669)aaC>aaT	p.N223N	CHST11_ENST00000549260.1_Silent_p.N218N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	p.N223N(1)		18					AGCGGAAGAACGCCACCCAGG	0.567000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000303694.5	1	1	hg19	CCDS9099.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	1	0	1	62	299	0	71	0	1	0	265	0	71	2		0	0	0	0	0	2	1	1	61	295	0	70	2								-20.000000	1	1	121412	3	33	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH1L2	160428	broad.mit.edu	37	12	105431901	105431901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105431901G>A	ENST00000258494.9	-	18	2265	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2			35					GCCTTGTCAAGTTCACAGTCA	0.443000																								0							SO:0001583	missense			ENST00000258494.9	1	1	hg19	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090850	0.76756	.	.	ENSG00000136010	ENST00000258494	T	0.80653	-1.4	5.47	3.62	0.41486	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.153962	0.64402	D	0.000019	D	0.85813	0.5784	M	0.75447	2.3	0.80722	D	1	D	0.57899	0.981	P	0.54372	0.75	D	0.86615	0.1875	10	0.62326	D	0.03	.	14.7689	0.69659	0.0:0.0:0.737:0.263	.	709	Q3SY69	AL1L2_HUMAN	F	709	ENSP00000258494:L709F	ENSP00000258494:L709F	L	-	1	0	ALDH1L2	103956031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	0.647000	0.30713	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	1	0	1	65	242	0	41	1	9.994985e-01	5	40	0	41	2		0	0	0	0	0	2	1	1	65	229	0	41	2								-20.000000	1	1	121412	3	30	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH1L2	160428	broad.mit.edu	37	12	105462502	105462502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105462502C>T	ENST00000258494.9	-	4	729	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.A197T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2			35					CTAACCATGGCCTTGATTCCT	0.338000																								0							SO:0001583	missense			ENST00000258494.9	0	1	hg19	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553253	0.96501	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.77358	-1.09;-1.09	6.06	6.06	0.98353	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89594	0.6760	M	0.86420	2.815	0.80722	D	1	D	0.56746	0.977	P	0.62560	0.904	D	0.90078	0.4168	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	197	Q3SY69	AL1L2_HUMAN	T	197	ENSP00000258494:A197T;ENSP00000389608:A197T	ENSP00000258494:A197T	A	-	1	0	ALDH1L2	103986632	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	0	0	0	10	374	0	65	0	1.920804e-01	0	27	0	65	2		0	0	0	0	0	2	1	9.964911e-01	10	363	0	65	2								-3.359832	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.320000	0.160000	1.000000	0.310000	0.376312	0.320000	0	2.300000e-01	4.600000e-01
APPL2	55198	broad.mit.edu	37	12	105582102	105582102	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105582102T>G	ENST00000258530.3	-	17	1808	c.1583A>C	c.(1582-1584)aAc>aCc	p.N528T	APPL2_ENST00000551662.1_Missense_Mutation_p.N534T|APPL2_ENST00000539978.2_Missense_Mutation_p.N485T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2			33					GCGGAAGATGTTATGAATAGC	0.413000																								0							SO:0001583	missense			ENST00000258530.3	1	1	hg19	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283074	0.80803	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.36	5.36	0.76844	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.77103	2.36	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.83275	0.996;0.993;0.996	T	0.53795	-0.8388	10	0.87932	D	0	-27.8493	15.3491	0.74368	0.0:0.0:0.0:1.0	.	534;485;528	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	T	528;485;534;59	ENSP00000258530:N528T;ENSP00000444472:N485T;ENSP00000446917:N534T;ENSP00000446510:N59T	ENSP00000258530:N528T	N	-	2	0	APPL2	104106232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.024000	0.59613	0.523000	0.50628	AAC		TCGA-IB-7651-01A-11D-2154-08	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	1	0	1	99	426	0	83	1	1	60	149	0	83	2		0	0	0	0	0	2	1	1	98	422	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUAK1	9891	broad.mit.edu	37	12	106532208	106532208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106532208C>A	ENST00000261402.2	-	1	1603	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1			37					GCCAGAAAACCTCTCGGTGGC	0.667000																								0							SO:0001583	missense			ENST00000261402.2	1	1	hg19	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146817	0.77888	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.67345	-0.26	4.07	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.79493	0.4455	M	0.71871	2.18	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.81258	-0.1014	10	0.46703	T	0.11	.	16.2469	0.82449	0.0:1.0:0.0:0.0	.	75	O60285	NUAK1_HUMAN	M	75	ENSP00000261402:R75M	ENSP00000261402:R75M	R	-	2	0	NUAK1	105056338	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.197000	0.77814	1.832000	0.53329	0.313000	0.20887	AGG		TCGA-IB-7651-01A-11D-2154-08	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	1	0	0	31	155	0	32	1	9.959224e-01	3	43	0	32	2		0	0	0	0	0	2	1	1	29	152	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
CKAP4	10970	broad.mit.edu	37	12	106633726	106633726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106633726C>A	ENST00000378026.4	-	2	1021	c.885G>T	c.(883-885)gaG>gaT	p.E295D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4			20					AGGTCTGTATCTCCTTCACAG	0.522000																								0							SO:0001583	missense			ENST00000378026.4	1	1	hg19	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	9.626	1.135179	0.21123	.	.	ENSG00000136026	ENST00000378026	T	0.81415	-1.49	5.54	0.0734	0.14390	.	0.267058	0.41823	D	0.000806	D	0.82756	0.5106	M	0.75264	2.295	0.23138	N	0.998234	D	0.55385	0.971	P	0.55749	0.783	T	0.73920	-0.3830	10	0.35671	T	0.21	-5.3382	8.4601	0.32923	0.0:0.6124:0.1457:0.2418	.	295	Q07065	CKAP4_HUMAN	D	295	ENSP00000367265:E295D	ENSP00000367265:E295D	E	-	3	2	CKAP4	105157856	0.003000	0.15002	0.052000	0.19188	0.711000	0.40976	-0.444000	0.06854	-0.221000	0.09973	-0.253000	0.11424	GAG		TCGA-IB-7651-01A-11D-2154-08	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1	1	0	1	145	677	0	144	1	1	44	389	0	144	2		0	0	0	0	0	2	1	1	144	666	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR3B	55703	broad.mit.edu	37	12	106772100	106772100	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106772100G>A	ENST00000228347.4	+	8	774	c.552G>A	c.(550-552)ctG>ctA	p.L184L	POLR3B_ENST00000539066.1_Silent_p.L126L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B			57					AAGAGCAGCTGTCTAAGAACA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000228347.4	1	1	hg19	CCDS9105.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	1	0	1	95	392	0	96	1	9.527280e-01	8	15	0	96	2		0	0	0	0	0	2	1	1	93	386	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR3B	55703	broad.mit.edu	37	12	106857272	106857272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106857272G>T	ENST00000228347.4	+	23	2809	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	p.D863N(1)		57					AGGAGCAACAGACTCATATAT	0.378000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000228347.4	1	1	hg19	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902964	0.33628	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.72505	-0.66;-0.66	5.73	5.73	0.89815	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.040742	0.85682	D	0.000000	T	0.65015	0.2651	L	0.35414	1.06	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.58885	-0.7557	10	0.49607	T	0.09	-29.9656	19.8984	0.96975	0.0:0.0:1.0:0.0	.	863	Q9NW08	RPC2_HUMAN	Y	863;805	ENSP00000228347:D863Y;ENSP00000445721:D805Y	ENSP00000228347:D863Y	D	+	1	0	POLR3B	105381402	1.000000	0.71417	0.953000	0.39169	0.109000	0.19521	9.827000	0.99397	2.712000	0.92718	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	1	0	1	44	235	0	75	1	9.278533e-01	5	21	0	75	2		0	0	0	0	0	2	1	1	44	232	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
RIC8B	55188	broad.mit.edu	37	12	107208523	107208523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107208523C>T	ENST00000392839.2	+	3	288	c.182C>T	c.(181-183)aCa>aTa	p.T61I	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I|RIC8B_ENST00000392837.4_Missense_Mutation_p.T61I	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B			19					ATCCCAACAACATGTCAAGTG	0.388000																								0							SO:0001583	missense			ENST00000392839.2	1	1	hg19	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100814	0.37048	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478;ENST00000552619	T;T;T;T	0.66460	0.94;0.94;0.94;-0.21	5.36	5.36	0.76844	Armadillo-type fold (1);	0.455332	0.26352	N	0.024867	T	0.51210	0.1661	N	0.08118	0	0.80722	D	1	B;B;B	0.20988	0.05;0.029;0.037	B;B;B	0.18871	0.023;0.016;0.014	T	0.50101	-0.8867	10	0.59425	D	0.04	-5.3945	19.457	0.94897	0.0:1.0:0.0:0.0	.	21;61;61	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	I	61;61;21;45	ENSP00000376582:T61I;ENSP00000376583:T61I;ENSP00000347662:T21I;ENSP00000448743:T45I	ENSP00000347662:T21I	T	+	2	0	RIC8B	105732653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.676000	0.91093	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	1	0	1	83	342	0	92	1	9.442559e-01	7	15	0	92	2		0	0	0	0	0	2	1	1	81	338	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRY1	1407	broad.mit.edu	37	12	107393758	107393758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107393758G>A	ENST00000008527.5	-	6	1654	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	p.R263*(1)		29					TAAAACAGTCGACATGACAAA	0.338000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000008527.5	0	1	hg19	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	G	45	11.598548	0.99580	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.82	4.91	0.64330	.	0.056923	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.14	15.7241	0.77740	0.0:0.0:0.8524:0.1475	.	.	.	.	X	263	.	ENSP00000008527:R263X	R	-	1	2	CRY1	105917888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.411000	0.73298	1.387000	0.46486	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	1	0	1	46	235	0	41	0	9.993394e-01	1	58	0	41	2		0	0	0	0	0	2	1	1	44	232	0	41	2								-19.999880	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGOHB	55110	broad.mit.edu	37	12	10762505	10762505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10762505C>A	ENST00000320756.2	-	3	279	c.189G>T	c.(187-189)aaG>aaT	p.K63N	MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N|MAGOHB_ENST00000381881.2_Intron	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)			4					CAATAATTCTCTTCAGTTCTT	0.373000																								0							SO:0001583	missense			ENST00000320756.2	1	1	hg19	CCDS8628.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713933	0.68730	.	.	ENSG00000111196	ENST00000539554;ENST00000320756	.	.	.	4.61	2.8	0.32819	.	0.000000	0.85682	U	0.000000	T	0.71151	0.3306	M	0.93678	3.445	0.80722	D	1	P	0.40180	0.705	B	0.44108	0.441	T	0.73490	-0.3966	9	0.87932	D	0	.	6.4197	0.21736	0.0:0.7092:0.0:0.2908	.	63	Q96A72	MGN2_HUMAN	N	17;63	.	ENSP00000319240:K63N	K	-	3	2	MAGOHB	10653772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.781000	0.26774	0.879000	0.35944	0.591000	0.81541	AAG		TCGA-IB-7651-01A-11D-2154-08	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	1	0	1	22	132	0	40	1	9.999955e-01	21	110	0	40	2		0	0	0	0	0	2	1	9.999990e-01	22	127	0	40	2								-3.160365	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999377	0.990000	1	9.900000e-01	1
STYK1	55359	broad.mit.edu	37	12	10774566	10774566	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10774566G>A	ENST00000075503.3	-	10	1493	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1			26					GGATACGGTGGTGCTCCTGTC	0.423000										HNSCC(73;0.22)														0							SO:0001583	missense			ENST00000075503.3	1	1	hg19	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307667	0.81247	.	.	ENSG00000060140	ENST00000075503	T	0.70631	-0.5	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082542	0.51477	D	0.000083	T	0.61160	0.2325	L	0.31120	0.905	0.48632	D	0.999687	P	0.38677	0.642	B	0.43052	0.406	T	0.58584	-0.7611	10	0.02654	T	1	-12.4581	16.6127	0.84892	0.0:0.0:1.0:0.0	.	325	Q6J9G0	STYK1_HUMAN	S	325	ENSP00000075503:P325S	ENSP00000075503:P325S	P	-	1	0	STYK1	10665833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.090000	0.71397	2.514000	0.84764	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	1	0	0	81	324	0	98	1	8.984505e-01	8	10	0	98	2		0	0	0	0	0	2	1	1	79	320	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTBD11	121551	broad.mit.edu	37	12	107914310	107914310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107914310G>T	ENST00000280758.5	+	2	1710	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11			53					GAGACCCACAGCGGTCAAACA	0.542000																								0							SO:0001583	missense			ENST00000280758.5	1	1	hg19	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519401	0.44866	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.48201	1.25;1.32;1.29;0.82	4.1	2.22	0.28083	Histone-fold (1);	0.259153	0.33040	N	0.005353	T	0.52141	0.1716	L	0.38175	1.15	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.991	D;D;P	0.78314	0.991;0.979;0.793	T	0.49263	-0.8958	10	0.49607	T	0.09	.	7.2142	0.25951	0.3458:0.0:0.6542:0.0	.	394;394;394	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	H	394;394;394;28	ENSP00000280758:Q394H;ENSP00000413889:Q394H;ENSP00000447319:Q394H;ENSP00000407416:Q28H	ENSP00000280758:Q394H	Q	+	3	2	BTBD11	106438440	1.000000	0.71417	0.964000	0.40570	0.979000	0.70002	1.748000	0.38308	1.013000	0.39391	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1	107	441	0	110	0	3.357421e-01	0	6	0	110	2		0	0	0	0	0	2	1	1	106	429	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTBD11	121551	broad.mit.edu	37	12	107937887	107937887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937887G>A	ENST00000280758.5	+	3	1989	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	BTBD11_ENST00000490090.2_Silent_p.E487E|BTBD11_ENST00000420571.2_Silent_p.E487E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11			53					CCAACGTGGAGCCTTCCAAAG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000280758.5	1	1	hg19	CCDS31893.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1	45	197	0	63	1	2.403940e-01	4	1	0	63	2		0	0	0	0	0	2	1	1	45	196	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTBD11	121551	broad.mit.edu	37	12	108013842	108013842	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108013842C>A	ENST00000280758.5	+	11	3060	c.2532C>A	c.(2530-2532)tgC>tgA	p.C844*	BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11			53					TCATCCAGTGCTTGTTAAAGG	0.582000																								0							SO:0001587	stop_gained			ENST00000280758.5	0	1	hg19	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	39	7.460790	0.98299	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	.	.	.	5.04	2.8	0.32819	.	0.135156	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.4877	0.38940	0.0:0.7361:0.0:0.2639	.	.	.	.	X	844;725;844;381	.	ENSP00000280758:C844X	C	+	3	2	BTBD11	106537972	0.777000	0.28628	0.997000	0.53966	0.983000	0.72400	0.234000	0.17930	1.079000	0.41038	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1	73	204	0	50	1	7.304047e-01	2	7	0	50	2		0	0	0	0	0	2	1	1	72	200	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTBD11	121551	broad.mit.edu	37	12	108051379	108051379	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108051379C>A	ENST00000280758.5	+	17	3727	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M	BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M|BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11			53					CAAGCAGCTCCTGTATGACAA	0.473000																								0							SO:0001583	missense			ENST00000280758.5	1	1	hg19	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568358	0.65651	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.47177	1.05;1.26;0.85;1.1	5.84	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.73962	2.25	0.53688	D	0.999978	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.67757	-0.5588	10	0.87932	D	0	.	9.906	0.41377	0.0:0.8103:0.0:0.1897	.	604;1067	E9PHS4;A6QL63	.;BTBDB_HUMAN	M	1067;948;604;146	ENSP00000280758:L1067M;ENSP00000413889:L948M;ENSP00000349690:L604M;ENSP00000448322:L146M	ENSP00000280758:L1067M	L	+	1	2	BTBD11	106575509	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	1.777000	0.38604	2.760000	0.94817	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1	88	293	0	81	1	5.837345e-01	3	5	0	81	2		0	0	0	0	0	2	1	1	87	285	0	79	2								-3.843964	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PWP1	11137	broad.mit.edu	37	12	108082406	108082406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082406G>A	ENST00000412830.3	+	3	314	c.146G>A	c.(145-147)gGc>gAc	p.G49D	PWP1_ENST00000541166.1_5'UTR	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)			23					GAAGGTGGTGGCAGTGATGAA	0.488000																								0							SO:0001583	missense			ENST00000412830.3	1	1	hg19	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	7.797	0.712842	0.15306	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000546068;ENST00000538327	T	0.68903	-0.36	5.69	1.58	0.23477	.	0.406630	0.30869	N	0.008716	T	0.29223	0.0727	N	0.03948	-0.315	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	10	0.02654	T	1	.	1.6877	0.02845	0.266:0.1436:0.4437:0.1466	.	49	Q13610	PWP1_HUMAN	D	49	ENSP00000387365:G49D	ENSP00000258531:G49D	G	+	2	0	PWP1	106606536	0.979000	0.34478	1.000000	0.80357	0.699000	0.40488	1.779000	0.38624	0.730000	0.32425	0.478000	0.44815	GGC		TCGA-IB-7651-01A-11D-2154-08	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	1	0	1	67	338	0	76	1	1	75	142	0	76	2		0	0	0	0	0	2	1	1	67	329	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PWP1	11137	broad.mit.edu	37	12	108082504	108082504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082504G>A	ENST00000412830.3	+	3	412	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)			23					TGGTGACCCAGAGGATGACAG	0.522000																								0							SO:0001583	missense			ENST00000412830.3	1	1	hg19	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178588	0.38511	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70749	-0.5;-0.51	5.82	4.92	0.64577	.	0.296366	0.41396	D	0.000891	T	0.52773	0.1755	N	0.20357	0.565	0.30325	N	0.787161	B	0.06786	0.001	B	0.01281	0.0	T	0.42241	-0.9463	10	0.07990	T	0.79	.	14.0991	0.65042	0.0:0.2979:0.7021:0.0	.	82	Q13610	PWP1_HUMAN	K	82;20;82;82;82;20	ENSP00000387365:E82K;ENSP00000445249:E20K	ENSP00000258531:E82K	E	+	1	0	PWP1	106606634	1.000000	0.71417	0.063000	0.19743	0.792000	0.44763	4.115000	0.57865	1.414000	0.47017	0.579000	0.79373	GAG		TCGA-IB-7651-01A-11D-2154-08	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	1	0	1	55	192	0	40	1	1	65	144	0	40	2		0	0	0	0	0	2	1	1	54	185	0	40	2								-20.000000	1	0	121412	1	26	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM4	11108	broad.mit.edu	37	12	108128027	108128027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108128027G>A	ENST00000228437.5	-	12	2825	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4			20					TGAATACACAGCACTGTTAAT	0.418000																								0							SO:0001583	missense			ENST00000228437.5	1	1	hg19	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019506	0.54576	.	.	ENSG00000110851	ENST00000228437	T	0.10573	2.86	6.03	4.12	0.48240	.	0.097739	0.64402	D	0.000002	T	0.06371	0.0164	N	0.12182	0.205	0.25555	N	0.987046	B	0.20052	0.041	B	0.17098	0.017	T	0.24764	-1.0151	10	0.66056	D	0.02	0.0607	8.4723	0.32993	0.0821:0.2235:0.6943:0.0	.	789	Q9UKN5	PRDM4_HUMAN	V	789	ENSP00000228437:A789V	ENSP00000228437:A789V	A	-	2	0	PRDM4	106652157	0.983000	0.35010	0.412000	0.26496	0.855000	0.48748	3.027000	0.49697	1.569000	0.49696	-0.263000	0.10527	GCT		TCGA-IB-7651-01A-11D-2154-08	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	0	0	1	167	611	0	116	1	9.999939e-01	15	49	0	116	2		0	0	0	0	0	2	1	1	163	595	0	114	2								-20.000000	1	0	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM4	11108	broad.mit.edu	37	12	108145246	108145246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108145246G>A	ENST00000228437.5	-	5	1531	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4			20					TCTTCCATTTGCAGTGAAGGT	0.413000																								0							SO:0001587	stop_gained			ENST00000228437.5	0	1	hg19	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533768	0.96460	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	.	.	.	5.77	5.77	0.91146	.	0.052480	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	358;103	.	ENSP00000228437:Q358X	Q	-	1	0	PRDM4	106669376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.885000	0.99019	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	1	0	0	22	317	0	52	1	8.803200e-01	2	54	0	52	2		0	0	0	0	0	2	1	9.999985e-01	21	309	0	52	2								-3.142702	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.780000	0.500000	1.000000	1.000000	0.793439	0.780000	0	6.300000e-01	9.900000e-01
ASCL4	121549	broad.mit.edu	37	12	108169235	108169235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108169235C>T	ENST00000342331.4	+	1	1074	c.243C>T	c.(241-243)cgC>cgT	p.R81R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4			13					GCAACGAGCGCGAGCGGCAGC	0.716000													GBM(170;776 3695 11650)											0							SO:0001819	synonymous_variant			ENST00000342331.4	0	1	hg19	CCDS31894.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	1	0	0	8	51	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.871628e-01	8	46	0	8	2								-19.039420	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.760000	1.000000	1.000000	0.984471	0.990000	1	9.900000e-01	1
WSCD2	9671	broad.mit.edu	37	12	108626655	108626655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108626655G>A	ENST00000332082.4	+	8	1945	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D|WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D|WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2			57					TACTTCGATGGCTCCCTCTAC	0.577000																								0							SO:0001583	missense			ENST00000332082.4	1	1	hg19	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764889	0.90020	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30981	1.51;4.64;1.51;4.64	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.977;0.998	T	0.54029	-0.8354	10	0.56958	D	0.05	-32.4055	17.703	0.88301	0.0:0.0:1.0:0.0	.	376;376	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	D	376	ENSP00000448047:G376D;ENSP00000261400:G376D;ENSP00000331933:G376D;ENSP00000447272:G376D	ENSP00000261400:G376D	G	+	2	0	WSCD2	107150785	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	9.263000	0.95617	2.644000	0.89710	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	1	0	1	42	186	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	1	42	185	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMKLR1	1240	broad.mit.edu	37	12	108686528	108686528	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108686528T>A	ENST00000312143.7	-	3	575	c.212A>T	c.(211-213)aAg>aTg	p.K71M	CMKLR1_ENST00000397688.2_Missense_Mutation_p.K69M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1			37					GTTCACTGTCTTCTTCATCTT	0.517000																								0							SO:0001583	missense			ENST00000312143.7	1	1	hg19	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	t	17.48	3.400342	0.62177	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.0	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.159847	0.53938	D	0.000046	T	0.58481	0.2125	M	0.74258	2.255	0.40904	D	0.984177	D	0.76494	0.999	D	0.73380	0.98	T	0.57757	-0.7756	10	0.87932	D	0	.	7.4535	0.27252	0.0:0.2193:0.0:0.7807	.	71	Q99788	CML1_HUMAN	M	71;71;69;69;71;71;71	ENSP00000311733:K71M;ENSP00000401293:K71M;ENSP00000380803:K69M;ENSP00000447579:K69M;ENSP00000449716:K71M;ENSP00000448925:K71M;ENSP00000448362:K71M	ENSP00000311733:K71M	K	-	2	0	CMKLR1	107210658	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.820000	0.27323	0.177000	0.19895	0.387000	0.25754	AAG		TCGA-IB-7651-01A-11D-2154-08	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1	1	0	1	75	301	0	65	0	9.996589e-01	0	50	0	65	2		0	0	0	0	0	2	1	1	72	292	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FICD	11153	broad.mit.edu	37	12	108913102	108913102	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108913102C>T	ENST00000552695.1	+	3	1462	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	p.G409G(1)		15					CCAACGAGGGCGACGTGAGGC	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000552695.1	1	1	hg19	CCDS9116.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	1	0	1	60	253	0	64	1	9.969270e-01	12	28	0	64	2		0	0	0	0	0	2	1	1	57	248	0	64	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSH1	54434	broad.mit.edu	37	12	109181823	109181823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109181823G>A	ENST00000326495.5	-	15	3184	c.3091C>T	c.(3091-3093)Cca>Tca	p.P1031S	SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1			38					TTCCCTGATGGTTTGGAGGTT	0.562000																								0							SO:0001583	missense			ENST00000326495.5	1	1	hg19	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	7.846	0.722921	0.15439	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12147	2.86;2.71	5.0	-2.85	0.05734	.	3.429030	0.00447	N	0.000081	T	0.08626	0.0214	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24261	-1.0165	10	0.18276	T	0.48	1.3753	4.7863	0.13227	0.3481:0.0856:0.4793:0.0871	.	1031;719	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	719;1031	ENSP00000353374:P719S;ENSP00000315713:P1031S	ENSP00000315713:P1031S	P	-	1	0	SSH1	107705952	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	0.027000	0.13621	-0.805000	0.04404	-0.813000	0.03139	CCA		TCGA-IB-7651-01A-11D-2154-08	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	1	0	1	124	539	0	133	1	9.999996e-01	9	83	0	133	2		0	0	0	0	0	2	1	1	121	526	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSH1	54434	broad.mit.edu	37	12	109201572	109201572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109201572C>T	ENST00000326495.5	-	8	661	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SSH1_ENST00000551165.1_Missense_Mutation_p.E190K|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1			38					CGGGCCACTTCGCAGGCCTTG	0.592000																								0							SO:0001583	missense			ENST00000326495.5	1	1	hg19	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920053	0.92249	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000303438	T;T;T	0.37058	1.22;1.22;1.22	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.69078	0.87;0.997;0.87;0.906	P;P;B;B	0.59546	0.454;0.859;0.269;0.372	T	0.47182	-0.9137	10	0.36615	T	0.2	-25.9072	18.0508	0.89347	0.0:1.0:0.0:0.0	.	201;94;190;190	Q8WYL5-5;Q8WYL5-3;Q8WYL5-2;Q8WYL5	.;.;.;SSH1_HUMAN	K	190;190;201;94	ENSP00000315713:E190K;ENSP00000448824:E190K;ENSP00000326107:E201K	ENSP00000307610:E94K	E	-	1	0	SSH1	107725701	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.747000	0.85070	2.488000	0.83962	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	1	0	1	50	210	0	54	1	9.999486e-01	8	57	0	54	2		0	0	0	0	0	2	1	1	49	207	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSH1	54434	broad.mit.edu	37	12	109205098	109205098	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109205098G>T	ENST00000326495.5	-	6	501	c.408C>A	c.(406-408)agC>agA	p.S136R	SSH1_ENST00000551165.1_Missense_Mutation_p.S136R|SSH1_ENST00000326470.5_Missense_Mutation_p.S147R|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000360239.3_De_novo_Start_OutOfFrame	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1			38					CAATGGTGCAGCTTTTACTGC	0.522000																								0							SO:0001583	missense			ENST00000326495.5	0	1	hg19	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320243	0.60634	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000546697	T;T;T;T	0.77620	1.29;1.29;1.29;-1.11	5.2	5.2	0.72013	.	0.156947	0.64402	D	0.000001	D	0.82273	0.5001	L	0.37507	1.11	0.80722	D	1	B;D;P	0.65815	0.34;0.995;0.76	B;P;B	0.62014	0.07;0.897;0.343	D	0.83762	0.0215	10	0.62326	D	0.03	-34.4919	18.0915	0.89477	0.0:0.0:1.0:0.0	.	147;136;136	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	R	136;136;147;120	ENSP00000315713:S136R;ENSP00000448824:S136R;ENSP00000326107:S147R;ENSP00000446652:S120R	ENSP00000326107:S147R	S	-	3	2	SSH1	107729227	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.069000	0.50026	2.577000	0.86979	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	0	0	0	6	315	1	48	0	3.519666e-03	0	72	1	48	7		0	0	0	0	0	2	0	3.552391e-03	6	311	1	48	20								-6.431800	1	0	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.240000	0.090000	1.000000	0.210000	0.301017	0.240000	0	1.500000e-01	3.800000e-01
DAO	1610	broad.mit.edu	37	12	109278930	109278930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109278930G>A	ENST00000228476.3	+	2	352	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	DAO_ENST00000551281.1_Missense_Mutation_p.G50S	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase			26				Flavin adenine dinucleotide(DB03147)	CGTGGCTGCCGGCCTCTGGCA	0.617000																								0							SO:0001583	missense			ENST00000228476.3	1	1	hg19	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959338	0.74016	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	D;D;D	0.86956	-2.19;-2.19;-2.19	5.58	5.58	0.84498	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.046434	0.85682	D	0.000000	D	0.94621	0.8266	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94898	0.8054	10	0.59425	D	0.04	-7.3957	18.1463	0.89656	0.0:0.0:1.0:0.0	.	50;50	P14920;Q7Z312	OXDA_HUMAN;.	S	50	ENSP00000446853:G50S;ENSP00000228476:G50S;ENSP00000447104:G50S	ENSP00000228476:G50S	G	+	1	0	DAO	107803059	1.000000	0.71417	0.959000	0.39883	0.028000	0.11728	9.777000	0.99008	2.628000	0.89032	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1	1	0	1	93	577	0	118	0	0	0	1	0	118	2		0	0	0	0	0	2	1	1	86	565	0	113	2								-3.017773	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAO	1610	broad.mit.edu	37	12	109293208	109293208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109293208G>A	ENST00000228476.3	+	10	1073	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	DAO_ENST00000551281.1_Missense_Mutation_p.R224Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase			26				Flavin adenine dinucleotide(DB03147)	CCCCAGATTCGGCTAGAAAGA	0.483000																								0							SO:0001583	missense			ENST00000228476.3	1	1	hg19	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.300068	0.81136	0.0	1.16E-4	ENSG00000110887	ENST00000551281;ENST00000228476	T;T	0.81415	-1.49;-1.49	5.14	5.14	0.70334	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.95271	0.8377	10	0.87932	D	0	-16.9776	16.0921	0.81098	0.0:0.0:1.0:0.0	.	290;273	P14920;Q7Z312	OXDA_HUMAN;.	Q	224;290	ENSP00000446853:R224Q;ENSP00000228476:R290Q	ENSP00000228476:R290Q	R	+	2	0	DAO	107817337	1.000000	0.71417	0.944000	0.38274	0.276000	0.26787	7.514000	0.81750	2.409000	0.81822	0.542000	0.68232	CGG		TCGA-IB-7651-01A-11D-2154-08	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1	1	0	1	17	107	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	9.999738e-01	17	105	0	25	2								-20.000000	1	1	121412	3	35	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.997643	0.990000	1	9.900000e-01	1
SVOP	55530	broad.mit.edu	37	12	109332674	109332674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109332674C>T	ENST00000299134.5	-	7	629	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)			6					TTTAAGGTGGCGATTGCCTTT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000299134.5	0	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	1	0	1	160	694	0	171	0	3.547095e-02	0	2	0	171	2		0	0	0	0	0	2	1	1	157	681	0	168	2								-20.000000	1	1	121036	1	34	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP30	84749	broad.mit.edu	37	12	109523652	109523652	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109523652G>A	ENST00000257548.5	+	13	1563	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30			28					AGGAGGTCCTGTCCTCCAGCG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000257548.5	1	1	hg19	CCDS9123.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	1	0	0	25	294	0	60	1	9.105616e-01	5	46	0	60	2		0	0	0	0	0	2	1	9.999998e-01	25	290	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.940000	0.620000	1.000000	1.000000	0.904215	0.940000	1	7.700000e-01	1
ALKBH2	121642	broad.mit.edu	37	12	109530459	109530459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109530459C>T	ENST00000429722.2	-	2	496	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T|ALKBH2_ENST00000440112.2_Missense_Mutation_p.A45T	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)			8				Vitamin C(DB00126)	TTCCCTGGGGCCTCTCTCCTG	0.597000								Direct reversal of damage																0							SO:0001583	missense			ENST00000429722.2	1	1	hg19	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433944	0.43224	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.22134	1.97;1.97	5.76	-11.5	0.00074	.	3.538250	0.00508	N	0.000171	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.018;0.001	B;B	0.10450	0.005;0.0	T	0.15150	-1.0447	10	0.09338	T	0.73	-0.7051	13.3487	0.60589	0.0:0.5201:0.3529:0.127	.	45;45	A4PET2;Q6NS38	.;ALKB2_HUMAN	T	45	ENSP00000398181:A45T;ENSP00000343021:A45T	ENSP00000343021:A45T	A	-	1	0	ALKBH2	108014842	0.000000	0.05858	0.000000	0.03702	0.432000	0.31715	-1.292000	0.02772	-3.112000	0.00241	-0.471000	0.05019	GCC		TCGA-IB-7651-01A-11D-2154-08	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	1	0	1	157	716	0	148	1	1	49	82	0	148	2		0	0	0	0	0	2	1	1	155	700	0	148	2								-20.000000	1	1	121408	1	32	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACB	32	broad.mit.edu	37	12	109577565	109577565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109577565G>A	ENST00000338432.7	+	2	474	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	ACACB_ENST00000377848.3_Missense_Mutation_p.G119R|ACACB_ENST00000377854.5_Missense_Mutation_p.G119R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	TCAAGCCAACGGGACTGGGAC	0.622000																								0							SO:0001583	missense			ENST00000338432.7	1	1	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	7.030	0.560373	0.13498	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.51071	2.2;0.72;2.2;2.2	4.33	-1.05	0.10036	.	1.686470	0.02762	N	0.118751	T	0.31734	0.0806	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.06303	-1.0834	10	0.23891	T	0.37	.	3.5659	0.07900	0.4306:0.0:0.3952:0.1742	.	119	O00763	ACACB_HUMAN	R	119;94;119;119	ENSP00000341044:G119R;ENSP00000443494:G94R;ENSP00000367079:G119R;ENSP00000367085:G119R	ENSP00000341044:G119R	G	+	1	0	ACACB	108061948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-0.317000	0.08677	-0.136000	0.14681	GGG		TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1	200	913	0	240	0	2.231320e-01	1	4	0	240	2		0	0	0	0	0	2	1	1	196	892	0	238	2								-2.509958	1	1	121412	1	33	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACB	32	broad.mit.edu	37	12	109604757	109604757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109604757G>A	ENST00000338432.7	+	3	864	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ACACB_ENST00000377854.5_Missense_Mutation_p.E249K|ACACB_ENST00000377848.3_Missense_Mutation_p.E249K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	TTCTCCCGCTGAGTTTGTCAC	0.612000																								0							SO:0001583	missense			ENST00000338432.7	1	1	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794786	0.96952	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.17370	2.28;2.28;2.28	5.55	5.55	0.83447	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.86953	2.85	0.80722	D	1	P	0.38922	0.651	P	0.45506	0.483	T	0.39742	-0.9599	10	0.87932	D	0	.	19.1106	0.93315	0.0:0.0:1.0:0.0	.	249	O00763	ACACB_HUMAN	K	249	ENSP00000341044:E249K;ENSP00000367079:E249K;ENSP00000367085:E249K	ENSP00000341044:E249K	E	+	1	0	ACACB	108089140	1.000000	0.71417	0.978000	0.43139	0.797000	0.45037	7.933000	0.87642	2.596000	0.87737	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1	63	324	0	90	0	6.073203e-01	1	11	0	90	2		0	0	0	0	0	2	1	1	61	315	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACB	32	broad.mit.edu	37	12	109605787	109605787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109605787G>A	ENST00000338432.7	+	4	992	c.873G>A	c.(871-873)cgG>cgA	p.R291R	ACACB_ENST00000377854.5_Silent_p.R291R|ACACB_ENST00000377848.3_Silent_p.R291R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	GCAACGAGCGGGCCATCCGGT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000338432.7	1	1	hg19	CCDS31898.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1	54	260	0	65	0	9.087526e-01	1	21	0	65	2		0	0	0	0	0	2	1	1	52	252	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACB	32	broad.mit.edu	37	12	109612034	109612034	+	Splice_Site	SNP	C	C	T	rs148317452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109612034C>T	ENST00000338432.7	+	7	1334	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	ACACB_ENST00000377854.5_Splice_Site_p.S405S|ACACB_ENST00000377848.3_Splice_Site_p.S405S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	GGAGTGGAAGCGGTAAGGGAC	0.577000																								0							SO:0001630	splice_region_variant			ENST00000338432.7	0	0	hg19	CCDS31898.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1	14	83	0	15	1	6.672856e-01	2	13	0	15	2		0	0	0	0	0	2	1	9.998318e-01	14	83	0	15	2								-19.999760	1	0	121384	6	33	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.980000	1.000000	1.000000	0.997143	0.990000	1	9.900000e-01	1
TAS2R9	50835	broad.mit.edu	37	12	10962247	10962247	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962247A>C	ENST00000240691.2	-	1	520	c.428T>G	c.(427-429)aTt>aGt	p.I143S	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9			17					AACACTAATAATTAAAGAGAT	0.358000																								0							SO:0001583	missense			ENST00000240691.2	1	1	hg19	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469142	0.26423	.	.	ENSG00000121381	ENST00000240691	T	0.38077	1.16	3.82	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.959327	0.08425	U	0.947811	T	0.29850	0.0746	L	0.52011	1.625	0.09310	N	1	P	0.45078	0.85	B	0.39027	0.288	T	0.24404	-1.0161	10	0.62326	D	0.03	.	5.1001	0.14754	0.6463:0.0:0.3537:0.0	.	143	Q9NYW1	TA2R9_HUMAN	S	143	ENSP00000240691:I143S	ENSP00000240691:I143S	I	-	2	0	TAS2R9	10853514	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.646000	0.01998	0.639000	0.30564	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1	1	0	1	47	249	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	46	243	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TAS2R9	50835	broad.mit.edu	37	12	10962425	10962425	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962425T>C	ENST00000240691.2	-	1	342	c.250A>G	c.(250-252)Att>Gtt	p.I84V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9			17					ACATTCACAATGCTTACTAGC	0.408000																								0							SO:0001583	missense			ENST00000240691.2	0	1	hg19	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	T	5.649	0.304332	0.10678	.	.	ENSG00000121381	ENST00000240691	T	0.00808	5.67	4.37	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	0.203864	0.28241	U	0.016077	T	0.00815	0.0027	L	0.37507	1.11	0.09310	N	1	P	0.35077	0.483	B	0.36464	0.225	T	0.50423	-0.8830	10	0.24483	T	0.36	.	4.9559	0.14038	0.0:0.1759:0.2612:0.5629	.	84	Q9NYW1	TA2R9_HUMAN	V	84	ENSP00000240691:I84V	ENSP00000240691:I84V	I	-	1	0	TAS2R9	10853692	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.895000	0.04118	-0.268000	0.09312	-0.361000	0.07541	ATT		TCGA-IB-7651-01A-11D-2154-08	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1	0	0	0	8	393	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	9.890921e-01	8	389	0	105	2								-8.167011	1	1	121404	1	33	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.250000	0.110000	1.000000	0.230000	0.308950	0.250000	0	1.700000e-01	3.800000e-01
ACACB	32	broad.mit.edu	37	12	109629664	109629664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109629664G>A	ENST00000338432.7	+	15	2427	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	ACACB_ENST00000377854.5_Missense_Mutation_p.D770N|ACACB_ENST00000377848.3_Missense_Mutation_p.D770N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	GGAGAAACCGGATATCATGCT	0.557000																								0							SO:0001583	missense			ENST00000338432.7	1	1	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267133	0.80469	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96232	-3.95;-3.95;-3.91	5.41	5.41	0.78517	.	0.099394	0.64402	D	0.000003	D	0.95778	0.8626	M	0.71920	2.185	0.80722	D	1	B	0.22851	0.076	B	0.26614	0.071	D	0.93811	0.7110	10	0.56958	D	0.05	.	18.244	0.89978	0.0:0.0:1.0:0.0	.	770	O00763	ACACB_HUMAN	N	770	ENSP00000341044:D770N;ENSP00000367079:D770N;ENSP00000367085:D770N	ENSP00000341044:D770N	D	+	1	0	ACACB	108114047	1.000000	0.71417	0.793000	0.32043	0.955000	0.61496	6.823000	0.75282	2.549000	0.85964	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1	50	229	0	49	1	9.568113e-01	4	22	0	49	2		0	0	0	0	0	2	1	1	50	228	0	49	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACB	32	broad.mit.edu	37	12	109637233	109637233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637233C>T	ENST00000338432.7	+	18	2773	c.2654C>T	c.(2653-2655)aCg>aTg	p.T885M	ACACB_ENST00000377854.5_Missense_Mutation_p.T885M|ACACB_ENST00000377848.3_Missense_Mutation_p.T885M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	GGCAATAAGACGTGTGTGTTT	0.547000																								0							SO:0001583	missense			ENST00000338432.7	1	1	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311544	0.81358	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.96491	-4.03;-4.03;-3.97	5.42	4.53	0.55603	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.99198	1.0872	10	0.87932	D	0	.	14.2219	0.65833	0.0:0.9269:0.0:0.0731	.	885	O00763	ACACB_HUMAN	M	885;885;885;116	ENSP00000341044:T885M;ENSP00000367079:T885M;ENSP00000367085:T885M	ENSP00000341044:T885M	T	+	2	0	ACACB	108121616	1.000000	0.71417	0.888000	0.34837	0.877000	0.50540	5.958000	0.70330	1.418000	0.47098	0.585000	0.79938	ACG		TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1	81	318	0	83	1	9.770719e-01	5	21	0	83	2		0	0	0	0	0	2	1	1	81	311	0	83	2								-20.000000	1	0	121378	1	33	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACB	32	broad.mit.edu	37	12	109637282	109637282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637282G>A	ENST00000338432.7	+	18	2822	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S	ACACB_ENST00000377854.5_Silent_p.S901S|ACACB_ENST00000377848.3_Silent_p.S901S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	GATCCCCCTCGGCTGGGAAGC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000338432.7	1	1	hg19	CCDS31898.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	0	0	1	82	422	0	90	1	7.274080e-01	3	12	0	90	2		0	0	0	0	0	2	1	1	81	412	0	86	2								-2.887328	1	0	121410	1	36	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACB	32	broad.mit.edu	37	12	109644617	109644617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109644617G>A	ENST00000338432.7	+	20	3135	c.3016G>A	c.(3016-3018)Gtc>Atc	p.V1006I	ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I|ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	CCTCACCAACGTCATGAGTGG	0.537000																								0							SO:0001583	missense			ENST00000338432.7	1	1	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	1.092	-0.663712	0.03428	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.37915	1.17;1.17;1.17	5.29	0.104	0.14531	Acetyl-CoA carboxylase, central domain (1);	0.120003	0.56097	N	0.000027	T	0.11922	0.0290	N	0.02775	-0.495	0.80722	D	1	B	0.24963	0.115	B	0.24006	0.05	T	0.36407	-0.9749	10	0.02654	T	1	.	10.597	0.45343	0.4098:0.0:0.5902:0.0	.	1006	O00763	ACACB_HUMAN	I	1006;1006;1006;237	ENSP00000341044:V1006I;ENSP00000367079:V1006I;ENSP00000367085:V1006I	ENSP00000341044:V1006I	V	+	1	0	ACACB	108129000	0.102000	0.21896	0.393000	0.26258	0.632000	0.37999	0.436000	0.21526	-0.272000	0.09259	-0.136000	0.14681	GTC		TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1	126	526	0	101	0	8.871803e-01	1	17	0	101	2		0	0	0	0	0	2	1	1	124	512	0	99	2								-20.000000	1	1	121412	2	42	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACB	32	broad.mit.edu	37	12	109674992	109674992	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109674992G>A	ENST00000338432.7	+	34	4588	c.4469G>A	c.(4468-4470)cGt>cAt	p.R1490H	ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	CGCATTTACCGTCACTTGGAA	0.552000																								0							SO:0001583	missense			ENST00000338432.7	1	1	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295524	0.95574	2.27E-4	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.75	4.75	0.60458	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95195	0.8311	10	0.87932	D	0	.	18.6363	0.91379	0.0:0.0:1.0:0.0	.	1490	O00763	ACACB_HUMAN	H	1490;1490;1420;721;156	ENSP00000341044:R1490H;ENSP00000367079:R1490H;ENSP00000367085:R1420H;ENSP00000444075:R156H	ENSP00000341044:R1490H	R	+	2	0	ACACB	108159375	1.000000	0.71417	0.985000	0.45067	0.919000	0.55068	9.798000	0.99111	2.586000	0.87340	0.555000	0.69702	CGT		TCGA-IB-7651-01A-11D-2154-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	1	0	1	123	509	0	148	1	9.068093e-01	2	17	0	148	2		0	0	0	0	0	2	1	1	123	499	0	147	2								-20.000000	1	1	121412	8	45	1	1	2	3	2.003078	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXN4	121643	broad.mit.edu	37	12	109719515	109719515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109719515C>T	ENST00000299162.5	-	9	1095	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4			16					ACTGTGGTGGCGTGAGTCAGC	0.677000																								0							SO:0001583	missense			ENST00000299162.5	1	1	hg19	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832846	0.16820	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95272	-3.66;-3.24	5.29	1.2	0.21068	.	1.572910	0.03385	N	0.200953	D	0.89812	0.6823	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.019;0.012	B;B	0.10450	0.005;0.005	T	0.73427	-0.3986	10	0.15066	T	0.55	-15.7102	2.2101	0.03945	0.1578:0.5154:0.1543:0.1725	.	331;331	A6H901;Q96NZ1	.;FOXN4_HUMAN	T	151;331	ENSP00000347354:A151T;ENSP00000299162:A331T	ENSP00000299162:A331T	A	-	1	0	FOXN4	108203898	0.011000	0.17503	0.022000	0.16811	0.301000	0.27625	0.172000	0.16704	0.009000	0.14813	-0.234000	0.12200	GCC		TCGA-IB-7651-01A-11D-2154-08	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	1	0	1	17	115	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999713e-01	17	112	0	25	2								-20.000000	1	1	0	0		1	0	4	4	2.194263	1	0.170000	2.060000	2.468240e-01	0.990000	0.990000	1.000000	1.000000	0.998788	0.990000	1	9.900000e-01	1
FOXN4	121643	broad.mit.edu	37	12	109723184	109723184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109723184C>T	ENST00000299162.5	-	8	930	c.826G>A	c.(826-828)Gac>Aac	p.D276N	FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	p.D276N(1)|p.D96N(1)		16					TCCATCTTGTCGATGCGGGCC	0.612000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000299162.5	1	1	hg19	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.785985|2.785985	0.49997|0.49997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000139445|ENSG00000139445	ENST00000355216;ENST00000299162|ENST00000266856	D;D|.	0.95412|.	-3.7;-3.7|.	4.71|4.71	3.81|3.81	0.43845|0.43845	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59945|0.59945	0.2231|0.2231	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	P;P|.	0.52692|.	0.955;0.955|.	P;P|.	0.51079|.	0.658;0.557|.	T|T	0.63207|0.63207	-0.6689|-0.6689	10|6	0.14252|0.87932	T|D	0.57|0	-10.5193|-10.5193	12.1006|12.1006	0.53780|0.53780	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	276;276|.	A6H901;Q96NZ1|.	.;FOXN4_HUMAN|.	N|Q	96;276|234	ENSP00000347354:D96N;ENSP00000299162:D276N|.	ENSP00000299162:D276N|ENSP00000266856:R234Q	D|R	-|-	1|2	0|0	FOXN4|FOXN4	108207567|108207567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	7.783000|7.783000	0.85696|0.85696	1.109000|1.109000	0.41680|0.41680	0.555000|0.555000	0.69702|0.69702	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	1	0	0	7	161	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.808980e-01	7	160	0	31	2								-4.180146	1	1	0	0		1	0	4	4	2.194263	1	0.170000	2.060000	2.468240e-01	0.650000	0.270000	1.000000	1.000000	0.688484	0.650000	0	4.200000e-01	1
TAS2R10	50839	broad.mit.edu	37	12	10978550	10978550	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10978550A>C	ENST00000240619.2	-	1	407	c.319T>G	c.(319-321)Ttc>Gtc	p.F107V		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10			17					ATCTTCAGGAAATAGAAGATG	0.343000																								0							SO:0001583	missense			ENST00000240619.2	1	1	hg19	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422233	0.62622	.	.	ENSG00000121318	ENST00000240619	T	0.39056	1.1	4.67	4.67	0.58626	.	0.232278	0.33235	N	0.005138	T	0.65637	0.2710	M	0.90483	3.12	0.26369	N	0.976916	D	0.64830	0.994	D	0.69479	0.964	T	0.62369	-0.6869	10	0.59425	D	0.04	.	7.9563	0.30045	0.8171:0.0:0.0:0.1829	.	107	Q9NYW0	T2R10_HUMAN	V	107	ENSP00000240619:F107V	ENSP00000240619:F107V	F	-	1	0	TAS2R10	10869817	0.817000	0.29147	1.000000	0.80357	0.959000	0.62525	2.207000	0.42788	1.868000	0.54150	0.482000	0.46254	TTC		TCGA-IB-7651-01A-11D-2154-08	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1	1	0	1	49	245	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	46	243	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1H	283446	broad.mit.edu	37	12	109843753	109843753	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109843753C>A	ENST00000431443.2	+	7	828	c.828C>A	c.(826-828)gtC>gtA	p.V276V	MYO1H_ENST00000310903.5_Silent_p.V276V|MYO1H_ENST00000542883.1_3'UTR	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH			47					TTGCCAGTGTCTTACACCTGG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000431443.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	6	191	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	9.622233e-01	6	185	0	50	2								-8.006873	1	1	0	0		1	0	4	4	2.194263	1	0.170000	2.060000	2.468240e-01	0.490000	0.180000	1.000000	0.400000	0.576778	0.490000	0	3.000000e-01	1
UBE3B	89910	broad.mit.edu	37	12	109959007	109959007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109959007C>T	ENST00000342494.3	+	20	2726	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B			45					GGGGGTCATCCGTGTGAAGTT	0.502000																								0							SO:0001583	missense			ENST00000342494.3	1	1	hg19	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980821	0.74474	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.46819	0.86;0.86;0.86	5.93	5.93	0.95920	HECT (3);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77882	-0.2422	10	0.87932	D	0	-7.1982	14.774	0.69703	0.1532:0.8468:0.0:0.0	.	711	Q7Z3V4	UBE3B_HUMAN	C	711;711;711;138;6	ENSP00000391529:R711C;ENSP00000443131:R711C;ENSP00000340596:R711C	ENSP00000340596:R711C	R	+	1	0	UBE3B	108443390	1.000000	0.71417	0.999000	0.59377	0.237000	0.25408	4.473000	0.60196	2.810000	0.96702	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	1	0	1	146	494	0	113	1	9.999939e-01	28	32	0	113	2		0	0	0	0	0	2	1	1	140	483	0	112	2								-3.808301	1	1	0	0		1	0	4	4	2.194263	1	0.170000	2.060000	2.468240e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBE3B	89910	broad.mit.edu	37	12	109967770	109967770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109967770C>T	ENST00000342494.3	+	25	3298	c.2703C>T	c.(2701-2703)agC>agT	p.S901S	UBE3B_ENST00000535089.1_5'UTR|UBE3B_ENST00000434735.2_Silent_p.S901S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B			45					CCCTCATTAGCGGATTCCGTT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000342494.3	1	1	hg19	CCDS9129.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	1	0	1	163	494	0	129	1	1	31	45	0	129	2		0	0	0	0	0	2	1	1	158	480	0	127	2								-20.000000	1	1	121412	3	39	1	0	4	4	2.194263	1	0.170000	2.060000	2.468240e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MVK	4598	broad.mit.edu	37	12	110024595	110024595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110024595C>T	ENST00000228510.3	+	7	744	c.668C>T	c.(667-669)tCc>tTc	p.S223F	MVK_ENST00000539696.1_Intron|MVK_ENST00000541384.1_Missense_Mutation_p.S29F|MVK_ENST00000539575.1_Missense_Mutation_p.S171F|MVK_ENST00000392727.3_Missense_Mutation_p.S171F	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase			8					AAGATTTCATCCTTAAAGAGG	0.512000																								0							SO:0001583	missense			ENST00000228510.3	1	1	hg19	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685787	0.47991	.	.	ENSG00000110921	ENST00000228510;ENST00000392727;ENST00000539575;ENST00000541384	D;D;D;D	0.97791	-4.54;-4.37;-4.37;-4.38	4.83	3.01	0.34805	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.699813	0.14788	N	0.298383	D	0.95560	0.8557	L	0.59436	1.845	0.09310	N	1	B;D	0.55172	0.007;0.97	B;B	0.42738	0.009;0.396	D	0.90079	0.4169	10	0.51188	T	0.08	1.0E-4	7.2939	0.26383	0.0:0.8002:0.0:0.1998	.	171;223	F5H8H2;Q03426	.;KIME_HUMAN	F	223;171;171;29	ENSP00000228510:S223F;ENSP00000376487:S171F;ENSP00000443551:S171F;ENSP00000443182:S29F	ENSP00000228510:S223F	S	+	2	0	MVK	108508978	0.000000	0.05858	0.001000	0.08648	0.854000	0.48673	0.750000	0.26334	0.629000	0.30376	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	1	0	0	13	251	0	47	1	8.679509e-01	5	67	0	47	2		0	0	0	0	0	2	1	9.995123e-01	13	246	0	47	2								-4.833837	1	1	0	0		1	0	4	4	2.194263	1	0.170000	2.060000	2.468240e-01	0.720000	0.380000	1.000000	1.000000	0.746944	0.720000	0	5.200000e-01	1
TRPV4	59341	broad.mit.edu	37	12	110224581	110224581	+	Missense_Mutation	SNP	C	C	T	rs143835743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110224581C>T	ENST00000418703.2	-	13	2364	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4			35					CTCCCCAGAGCGGAAGGCCTT	0.662000																								0							SO:0001583	missense			ENST00000418703.2	1	1	hg19	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090065	0.94149	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.988;0.997	D;D;D;P;P	0.91635	0.999;0.998;0.999;0.764;0.829	D	0.94852	0.8014	10	0.62326	D	0.03	-31.3539	16.8762	0.86052	0.0:1.0:0.0:0.0	.	697;757;650;710;723	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	757;757;710;697;650;697;710;723	ENSP00000406191:R757H;ENSP00000261740:R757H;ENSP00000376480:R710H;ENSP00000319003:R697H;ENSP00000443611:R650H;ENSP00000442738:R697H;ENSP00000442167:R710H;ENSP00000444336:R723H	ENSP00000261740:R757H	R	-	2	0	TRPV4	108708964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.170000	0.77587	2.645000	0.89757	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	0	0	11	323	0	54	0	2.901814e-01	1	29	0	54	2		0	0	0	0	0	2	1	9.983761e-01	11	322	0	52	2								-3.734392	1	1	121406	2	36	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.490000	0.240000	1.000000	0.430000	0.583284	0.490000	0	3.400000e-01	1
TRPV4	59341	broad.mit.edu	37	12	110246189	110246189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110246189G>A	ENST00000418703.2	-	2	565	c.471C>T	c.(469-471)atC>atT	p.I157I	TRPV4_ENST00000544971.1_Silent_p.I157I|TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4			35					CCCGGGACACGATGTCAAAGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000418703.2	1	1	hg19	CCDS9134.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	1	0	1	73	266	0	44	1	7.653323e-01	4	8	0	44	2		0	0	0	0	0	2	1	1	73	262	0	44	2								-3.788378	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIT2	9815	broad.mit.edu	37	12	110385234	110385234	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110385234A>G	ENST00000355312.3	-	15	1467	c.1468T>C	c.(1468-1470)Tct>Cct	p.S490P	GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S440P|GIT2_ENST00000343646.5_Missense_Mutation_p.S410P|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2			27					GTGTACTCAGAACCAGTTTGC	0.493000																								0							SO:0001583	missense			ENST00000355312.3	1	1	hg19	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859134	0.32884	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.73469	-0.68;-0.67;-0.75;-0.75;-0.71;-0.68;-0.7	5.97	2.31	0.28768	.	0.321561	0.39407	N	0.001373	T	0.55081	0.1898	N	0.21097	0.63	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.0;0.0;0.0	T	0.34551	-0.9824	10	0.29301	T	0.29	.	6.4932	0.22127	0.7301:0.1324:0.1375:0.0	.	442;442;490;428;490	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	P	490;440;442;410;442;490;439;428	ENSP00000347464:S490P;ENSP00000353312:S440P;ENSP00000346585:S442P;ENSP00000340938:S410P;ENSP00000391813:S442P;ENSP00000354282:S490P;ENSP00000448832:S439P	ENSP00000340938:S410P	S	-	1	0	GIT2	108869617	0.989000	0.36119	0.995000	0.50966	0.980000	0.70556	0.569000	0.23638	0.156000	0.19299	-0.472000	0.04984	TCT		TCGA-IB-7651-01A-11D-2154-08	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	1	0	1	91	432	0	73	1	9.999928e-01	14	68	0	73	2		0	0	0	0	0	2	1	1	90	424	0	72	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD13A	88455	broad.mit.edu	37	12	110450942	110450942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110450942C>T	ENST00000261739.4	+	3	408	c.242C>T	c.(241-243)gCt>gTt	p.A81V	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A			16					TTACATGAGGCTGTGAGCACT	0.433000																								0							SO:0001583	missense			ENST00000261739.4	1	1	hg19	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189695	0.78789	.	.	ENSG00000076513	ENST00000261739	D	0.87491	-2.26	5.96	5.96	0.96718	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.84846	2.72	0.80722	D	1	P;D;D	0.89917	0.955;1.0;0.999	P;D;D	0.87578	0.698;0.998;0.994	D	0.94044	0.7312	10	0.56958	D	0.05	-4.7707	19.4101	0.94667	0.0:1.0:0.0:0.0	.	81;81;81	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	V	81	ENSP00000261739:A81V	ENSP00000261739:A81V	A	+	2	0	ANKRD13A	108935325	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.734000	0.84928	2.832000	0.97577	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	1	0	1	50	221	0	53	1	1	28	90	0	53	2		0	0	0	0	0	2	1	1	50	217	0	53	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2A2	488	broad.mit.edu	37	12	110765515	110765515	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110765515T>C	ENST00000539276.2	+	8	897	c.788T>C	c.(787-789)gTc>gCc	p.V263A	ATP2A2_ENST00000395494.2_Missense_Mutation_p.V236A|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V263A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2			38					CTTTCCAAAGTCATCTCCCTT	0.448000																								0							SO:0001583	missense			ENST00000539276.2	1	1	hg19	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436419	0.62955	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.91407	-2.84;-2.84;-2.84	5.48	5.48	0.80851	ATPase, P-type, ATPase-associated domain (1);	0.055142	0.64402	D	0.000001	D	0.84999	0.5597	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.008;0.004;0.008	B;B;B	0.19148	0.012;0.014;0.024	T	0.80605	-0.1308	10	0.41790	T	0.15	.	15.9151	0.79508	0.0:0.0:0.0:1.0	.	236;263;263	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	A	263;236;263	ENSP00000311186:V263A;ENSP00000378872:V236A;ENSP00000440045:V263A	ENSP00000311186:V263A	V	+	2	0	ATP2A2	109249898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.980000	0.88113	2.213000	0.71641	0.477000	0.44152	GTC		TCGA-IB-7651-01A-11D-2154-08	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	0	0	0	34	951	0	205	1	9.999999e-01	40	635	0	205	2		0	0	0	0	0	2	1	1	33	931	0	203	2								-4.068966	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.480000	0.320000	1.000000	0.450000	0.582901	0.480000	0	3.900000e-01	1
ATP2A2	488	broad.mit.edu	37	12	110778497	110778497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110778497C>T	ENST00000539276.2	+	14	1904	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L	ATP2A2_ENST00000395494.2_Silent_p.L572L|ATP2A2_ENST00000308664.6_Silent_p.L599L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2			38					CGTGGGCATGCTGGATCCTCC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000539276.2	1	1	hg19	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617351	0.14129	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	5.19	0.71726	.	.	.	.	.	T	0.71273	0.3320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70666	-0.4809	4	.	.	.	.	15.4358	0.75146	0.0:0.9337:0.0:0.0663	.	.	.	.	V	489	.	.	A	+	2	0	ATP2A2	109262880	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.300000	0.51834	1.583000	0.49898	-0.140000	0.14226	GCT		TCGA-IB-7651-01A-11D-2154-08	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	1	0	1	168	630	0	137	1	1	223	517	0	137	2		0	0	0	0	0	2	1	1	164	622	0	136	2								-20.000000	1	1	121412	1	33	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2A2	488	broad.mit.edu	37	12	110784169	110784169	+	Missense_Mutation	SNP	C	C	T	rs151157805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784169C>T	ENST00000539276.2	+	20	3132	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L	ATP2A2_ENST00000395494.2_Missense_Mutation_p.S981L|ATP2A2_ENST00000308664.6_Intron			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2			38					TGCTCGTTCTCGGCATGCACC	0.527000																								0							SO:0001583	missense			ENST00000539276.2	1	1	hg19	CCDS9144.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070835	0.36566	0.0	1.16E-4	ENSG00000174437	ENST00000395494;ENST00000539276	D;D	0.94723	-3.5;-3.47	6.17	4.32	0.51571	.	0.230717	0.46442	D	0.000287	D	0.86121	0.5857	N	0.08118	0	0.36457	D	0.866463	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.80885	-0.1182	9	.	.	.	.	13.1912	0.59711	0.1222:0.7457:0.1321:0.0	.	981;1008	P16615-4;P16615	.;AT2A2_HUMAN	L	981;1008	ENSP00000378872:S981L;ENSP00000440045:S1008L	.	S	+	2	0	ATP2A2	109268552	1.000000	0.71417	0.865000	0.33974	0.995000	0.86356	3.238000	0.51352	0.894000	0.36317	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	1	0	1	76	184	0	32	1	1	428	704	0	32	2		0	0	0	0	0	2	1	1	74	181	0	32	2								-20.000000	1	0	121412	8	38	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2A2	488	broad.mit.edu	37	12	110784227	110784227	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784227C>A	ENST00000539276.2	+	20	3190	c.3081C>A	c.(3079-3081)atC>atA	p.I1027I	ATP2A2_ENST00000395494.2_Silent_p.I1000I|ATP2A2_ENST00000308664.6_Intron			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2			38					CCCTGGTGATCTGGGTCTATA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000539276.2	1	1	hg19	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291400	0.10567	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	4.22	0.49857	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52909	-0.8512	4	.	.	.	.	7.1602	0.25659	0.1312:0.6775:0.126:0.0653	.	.	.	.	M	918	.	.	L	+	1	2	ATP2A2	109268610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.251000	0.43187	0.862000	0.35528	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	1	0	1	94	243	0	45	1	1	473	814	0	45	2		0	0	0	0	0	2	1	1	92	238	0	45	2								-20.000000	1	0	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAS2R14	50840	broad.mit.edu	37	12	11091357	11091357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11091357G>A	ENST00000537503.1	-	1	505	c.450C>T	c.(448-450)atC>atT	p.I150I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14			8					CATTTATATGGATGTTTATCA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000537503.1	1	1	hg19	CCDS8637.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	1	0	1	66	296	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	66	294	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD9B	144715	broad.mit.edu	37	12	110960151	110960151	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110960151A>G	ENST00000409778.3	+	8	877	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409246.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)			7					TGGAGATGTCAGTGAAGTATC	0.453000																								0							SO:0001583	missense			ENST00000409778.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.97	1.501926	0.26949	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.24723	1.84;2.16;2.17;1.84;2.12	4.98	-4.0	0.04057	.	1.174800	0.06233	N	0.688940	T	0.12944	0.0314	N	0.25380	0.74	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.30937	-0.9961	10	0.30854	T	0.27	0.0269	0.5283	0.00624	0.2512:0.1341:0.2771:0.3376	.	285;354;351	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	G	282;354;354;282;285	ENSP00000387329:S282G;ENSP00000376440:S354G;ENSP00000386434:S354G;ENSP00000386629:S282G;ENSP00000386697:S285G	ENSP00000376440:S354G	S	+	1	0	RAD9B	109444534	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-0.101000	0.10973	-0.288000	0.09051	0.459000	0.35465	AGT		TCGA-IB-7651-01A-11D-2154-08	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	1	0	1	39	86	0	26	0	1.008858e-01	1	1	0	26	2		0	0	0	0	0	2	1	1	35	84	0	25	2								-20.000000	1	1	121410	1	30	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCTN1	79600	broad.mit.edu	37	12	111078889	111078889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111078889G>A	ENST00000551590.1	+	9	1195	c.1039G>A	c.(1039-1041)Gtt>Att	p.V347I	TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I|TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I			Q2MV58	TECT1_HUMAN	tectonic family member 1			15					TCTCTCATTCGTTCTGGGGAC	0.388000																								0							SO:0001583	missense			ENST00000551590.1	1	1	hg19	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989356	0.74589	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.87	3.98	0.46160	Domain of unknown function DUF1619 (1);	0.346611	0.30483	N	0.009533	T	0.72692	0.3492	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B	0.29862	0.259;0.097;0.097;0.226;0.118	B;B;B;B;B	0.29524	0.103;0.02;0.02;0.047;0.034	T	0.56300	-0.8002	10	0.26408	T	0.33	-17.4742	13.4685	0.61270	0.1086:0.3326:0.5588:0.0	.	347;333;347;287;291	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	I	287;347;333;169;169;347;291	ENSP00000448735:V347I;ENSP00000380775:V333I;ENSP00000366882:V169I;ENSP00000380779:V347I	ENSP00000366882:V169I	V	+	1	0	TCTN1	109563272	0.990000	0.36364	0.067000	0.19924	0.311000	0.27955	1.586000	0.36611	0.358000	0.24211	-0.120000	0.15030	GTT		TCGA-IB-7651-01A-11D-2154-08	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	1	0	1	125	590	0	114	1	9.999937e-01	8	73	0	114	2		0	0	0	0	0	2	1	1	124	583	0	114	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC63	160762	broad.mit.edu	37	12	111317744	111317744	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111317744A>C	ENST00000308208.5	+	6	766	c.524A>C	c.(523-525)aAt>aCt	p.N175T	CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63			39					CTGACCACTAATGCCAAGCTC	0.458000																								0							SO:0001583	missense			ENST00000308208.5	1	1	hg19	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511850	0.64522	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.74632	-0.82;-0.86;-0.8	5.04	5.04	0.67666	.	0.247417	0.45126	D	0.000382	D	0.84442	0.5473	M	0.77820	2.39	0.36117	D	0.845229	D	0.76494	0.999	D	0.67382	0.951	D	0.89232	0.3578	10	0.72032	D	0.01	.	12.1587	0.54091	1.0:0.0:0.0:0.0	.	175	Q8NA47	CCD63_HUMAN	T	135;175;96	ENSP00000445881:N135T;ENSP00000312399:N175T;ENSP00000450217:N96T	ENSP00000312399:N175T	N	+	2	0	CCDC63	109802127	0.997000	0.39634	0.161000	0.22692	0.870000	0.49936	5.743000	0.68655	1.911000	0.55334	0.379000	0.24179	AAT		TCGA-IB-7651-01A-11D-2154-08	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	1	0	1	227	610	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1	220	604	0	155	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYL2	4633	broad.mit.edu	37	12	111348974	111348974	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111348974G>A	ENST00000228841.8	-	7	455	c.408C>T	c.(406-408)gaC>gaT	p.D136D	MYL2_ENST00000548438.1_Silent_p.D122D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow			12					CGAACATCTGGTCAACCTGCA	0.612000													GBM(14;268 426 18829 21617 25540)											0							SO:0001819	synonymous_variant			ENST00000228841.8	1	1	hg19	CCDS31901.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	0	0	0	20	665	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	9.999942e-01	20	653	0	126	2								-16.405460	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.410000	0.240000	1.000000	0.390000	0.533513	0.410000	0	3.100000e-01	1
CUX2	23316	broad.mit.edu	37	12	111749924	111749924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111749924C>T	ENST00000261726.6	+	16	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2			55					CCCGAGAATCCGCACGCCTGA	0.617000																								0							SO:0001583	missense			ENST00000261726.6	1	1	hg19	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.990142	0.54041	.	.	ENSG00000111249	ENST00000261726	T	0.62498	0.02	4.58	4.58	0.56647	.	0.061324	0.64402	D	0.000004	T	0.77837	0.4190	M	0.79926	2.475	0.54753	D	0.999988	D	0.89917	1.0	D	0.76071	0.987	T	0.80759	-0.1239	10	0.87932	D	0	-11.4411	11.0216	0.47722	0.3279:0.6721:0.0:0.0	.	641	O14529	CUX2_HUMAN	C	641	ENSP00000261726:R641C	ENSP00000261726:R641C	R	+	1	0	CUX2	110234307	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	3.751000	0.55165	2.115000	0.64714	0.281000	0.19383	CGC		TCGA-IB-7651-01A-11D-2154-08	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	0	8	154	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	9.891271e-01	8	151	0	38	2								-10.762440	1	1	121010	1	30	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.760000	0.330000	1.000000	1.000000	0.757576	0.760000	0	5.000000e-01	1
CUX2	23316	broad.mit.edu	37	12	111758430	111758430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758430C>T	ENST00000261726.6	+	17	2771	c.2617C>T	c.(2617-2619)Ccg>Tcg	p.P873S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2			55					GGCCTACGTGCCGCGCACCCT	0.716000																								0							SO:0001583	missense			ENST00000261726.6	0	1	hg19	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159415	0.78226	.	.	ENSG00000111249	ENST00000261726	T	0.46063	0.88	4.13	4.13	0.48395	.	0.111705	0.64402	D	0.000007	T	0.50582	0.1624	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.38972	-0.9636	10	0.12430	T	0.62	-18.0431	16.4424	0.83906	0.0:1.0:0.0:0.0	.	873	O14529	CUX2_HUMAN	S	873	ENSP00000261726:P873S	ENSP00000261726:P873S	P	+	1	0	CUX2	110242813	1.000000	0.71417	0.959000	0.39883	0.954000	0.61252	5.678000	0.68153	1.866000	0.54105	0.289000	0.19496	CCG		TCGA-IB-7651-01A-11D-2154-08	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	0	12	106	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.991593e-01	12	103	0	20	2								-18.780790	1	0	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.770000	1.000000	1.000000	0.984375	0.990000	1	9.900000e-01	1
CUX2	23316	broad.mit.edu	37	12	111758478	111758478	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758478G>A	ENST00000261726.6	+	17	2819	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2			55					CGAGCAGTACGAGCTGTACAT	0.682000																								0							SO:0001583	missense			ENST00000261726.6	1	1	hg19	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406078	0.83230	.	.	ENSG00000111249	ENST00000261726	T	0.57907	0.37	4.45	4.45	0.53987	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.112719	0.64402	D	0.000013	T	0.64360	0.2591	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.69000	-0.5261	10	0.72032	D	0.01	-8.6409	17.126	0.86714	0.0:0.0:1.0:0.0	.	889	O14529	CUX2_HUMAN	K	889	ENSP00000261726:E889K	ENSP00000261726:E889K	E	+	1	0	CUX2	110242861	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	9.347000	0.97059	2.044000	0.60594	0.289000	0.19496	GAG		TCGA-IB-7651-01A-11D-2154-08	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	0	35	97	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	35	95	0	37	2								-20.000000	1	0	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUX2	23316	broad.mit.edu	37	12	111776115	111776115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111776115C>T	ENST00000261726.6	+	20	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2			55					GGGAAAGCATCCTGGGTCTGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000261726.6	1	1	hg19	CCDS41837.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	1	51	332	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	50	327	0	71	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CUX2	23316	broad.mit.edu	37	12	111785782	111785782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111785782C>T	ENST00000261726.6	+	22	4268	c.4114C>T	c.(4114-4116)Cga>Tga	p.R1372*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2			55					GGCCGGGGAGCGACTTCACCC	0.617000																								0							SO:0001587	stop_gained			ENST00000261726.6	0	1	hg19	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	39	7.352241	0.98231	.	.	ENSG00000111249	ENST00000261726	.	.	.	5.44	2.58	0.30949	.	0.320397	0.32769	N	0.005676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-5.2563	8.7956	0.34876	0.2665:0.6619:0.0:0.0716	.	.	.	.	X	1372	.	ENSP00000261726:R1372X	R	+	1	2	CUX2	110270165	0.999000	0.42202	0.245000	0.24217	0.302000	0.27658	1.873000	0.39558	0.248000	0.21435	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	1	0	0	30	705	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	30	693	0	111	2								-4.322092	1	1	120946	1	33	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.570000	0.370000	1.000000	0.520000	0.648541	0.570000	0	4.500000e-01	1
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.A827A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2			37					CGTTAGGGTGCGCATACTGCT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000377617.3	1	0	hg19	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695631	0.48202	.	.	ENSG00000204842	ENST00000550889	.	.	.	5.96	-7.82	0.01205	.	.	.	.	.	T	0.52256	0.1723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62220	-0.6900	5	0.87932	D	0	-8.4051	4.1823	0.10381	0.1525:0.1542:0.1251:0.5681	.	.	.	.	H	19	.	ENSP00000449162:R19H	R	-	2	0	ATXN2	110379515	0.216000	0.23585	0.631000	0.29282	0.988000	0.76386	-0.582000	0.05814	-1.443000	0.01953	-0.142000	0.14014	CGC		TCGA-IB-7651-01A-11D-2154-08	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	0	0	1	36	246	0	60	1	9.994260e-01	16	64	0	60	2		0	0	0	0	0	2	1	1	35	238	0	60	2								-3.319172	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
ACAD10	80724	broad.mit.edu	37	12	112182630	112182630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112182630G>A	ENST00000313698.4	+	13	2053	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	ACAD10_ENST00000455480.2_Missense_Mutation_p.S664N|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10			47					CCCACAGGCAGCAGGAGTTAT	0.567000																								0							SO:0001583	missense			ENST00000313698.4	1	1	hg19	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496691	0.26861	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96300	-3.97;3.27;-3.58;-3.58	5.42	-4.51	0.03483	.	1.722210	0.02874	N	0.132029	D	0.89283	0.6671	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.18263	0.021;0.0;0.001	D	0.83890	0.0284	10	0.16896	T	0.51	.	6.0316	0.19683	0.0:0.2892:0.3121:0.3986	.	664;633;633	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	N	235;633;633;664;26;633;214	ENSP00000376411:S235N;ENSP00000446959:S633N;ENSP00000389813:S664N;ENSP00000325137:S633N	ENSP00000325137:S633N	S	+	2	0	ACAD10	110667013	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.299000	0.02754	-1.483000	0.01858	-0.128000	0.14901	AGC		TCGA-IB-7651-01A-11D-2154-08	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	1	0	1	55	320	0	66	1	9.992881e-01	15	50	0	66	2		0	0	0	0	0	2	1	1	54	314	0	66	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPKAPK5	8550	broad.mit.edu	37	12	112326328	112326328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112326328C>T	ENST00000551404.2	+	11	1114	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.Q336*			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5			13					TCACGCGGAACAGTTGGCCAA	0.493000																								0							SO:0001587	stop_gained			ENST00000551404.2	0	1	hg19	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	41	8.908057	0.98998	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	336;336;336;336;17	.	ENSP00000202788:Q336X	Q	+	1	0	MAPKAPK5	110810711	1.000000	0.71417	0.994000	0.49952	0.660000	0.38997	7.380000	0.79704	2.785000	0.95823	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	1	0	1	129	420	0	98	1	1	17	128	0	98	2		0	0	0	0	0	2	1	1	129	411	0	98	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAA25	80018	broad.mit.edu	37	12	112481532	112481532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112481532G>A	ENST00000261745.4	-	18	2395	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit			46					CCCATTCTCGGCAGTCTTCTC	0.478000																								0							SO:0001583	missense			ENST00000261745.4	1	1	hg19	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444247	0.63067	.	.	ENSG00000111300	ENST00000261745	T	0.23950	1.88	5.79	5.79	0.91817	.	0.303172	0.36482	N	0.002567	T	0.20861	0.0502	N	0.19112	0.55	0.28563	N	0.911021	B;B	0.18741	0.02;0.03	B;B	0.15870	0.014;0.014	T	0.06552	-1.0820	10	0.33141	T	0.24	-1.2518	20.0473	0.97613	0.0:0.0:1.0:0.0	.	716;716	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	716	ENSP00000261745:A716V	ENSP00000261745:A716V	A	-	2	0	NAA25	110965915	1.000000	0.71417	0.959000	0.39883	0.914000	0.54420	5.923000	0.70045	2.722000	0.93159	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	1	0	1	50	537	0	85	1	8.955067e-01	5	39	0	85	2		0	0	0	0	0	2	1	1	49	529	0	85	2								-13.217880	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.850000	1.000000	1.000000	0.987191	0.990000	1	9.900000e-01	1
NAA25	80018	broad.mit.edu	37	12	112509715	112509715	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509715G>A	ENST00000261745.4	-	10	1268	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit			46					TGTACTCATCGTTACAACCTT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000261745.4	1	1	hg19	CCDS9159.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	0	0	0	8	181	0	46	1	5.569074e-01	2	39	0	46	2		0	0	0	0	1	2	1	9.896118e-01	8	180	0	45	2								-4.063058	1	0	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.650000	0.280000	1.000000	1.000000	0.690536	0.650000	0	4.300000e-01	1
NAA25	80018	broad.mit.edu	37	12	112509748	112509748	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509748C>A	ENST00000261745.4	-	10	1235	c.987G>T	c.(985-987)gaG>gaT	p.E329D	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit			46					GCCTAATCAGCTCCAATTTAG	0.413000																								0							SO:0001583	missense			ENST00000261745.4	1	1	hg19	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489392	0.84962	.	.	ENSG00000111300	ENST00000261745	T	0.51817	0.69	5.8	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.61327	-0.7085	10	0.23891	T	0.37	-15.658	9.4966	0.38993	0.0:0.7761:0.0:0.2239	.	329	Q14CX7	NAA25_HUMAN	D	329	ENSP00000261745:E329D	ENSP00000261745:E329D	E	-	3	2	NAA25	110994131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.156000	0.31712	0.730000	0.32425	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	1	0	1	53	159	0	50	1	9.998970e-01	15	30	0	50	2		0	0	0	0	0	2	1	1	53	158	0	49	2								-20.000000	1	0	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAFD1	10906	broad.mit.edu	37	12	112579955	112579955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112579955G>T	ENST00000257604.5	+	6	1323	c.706G>T	c.(706-708)Gag>Tag	p.E236*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1			17					GGGTGGTGAAGAGAGTGCAAA	0.488000																								0							SO:0001587	stop_gained			ENST00000257604.5	0	1	hg19	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927562	0.73327	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896;ENST00000548277	.	.	.	5.4	4.5	0.54988	.	0.524979	0.20233	N	0.096455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.2931	7.5553	0.27820	0.0927:0.2192:0.6881:0.0	.	.	.	.	X	236;236;236;30	.	ENSP00000257604:E236X	E	+	1	0	TRAFD1	111064338	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	2.653000	0.46691	1.261000	0.44149	0.467000	0.42956	GAG		TCGA-IB-7651-01A-11D-2154-08	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	1	0	1	84	278	0	64	1	1	5	109	0	64	2		0	0	0	0	0	2	1	1	82	275	0	62	2								-4.434754	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN11	5781	broad.mit.edu	37	12	112919958	112919958	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112919958C>T	ENST00000351677.2	+	10	1371	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	PTPN11_ENST00000392597.1_Silent_p.S391S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11			451					TCAAAGAAAGCGCCGCTCATG	0.398000			Mis		JMML, AML, MDS		Noonan Syndrome		Noonan syndrome						Dom	yes		12	12q24.1	5781	protein tyrosine phosphatase, non-receptor type 11	yes	L	0							SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	ENST00000351677.2	1	1	hg19	CCDS9163.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2	1	0	0	85	409	0	88	1	1	38	172	0	88	2		0	0	0	0	0	2	1	1	85	396	0	92	2								-20.000000	1	1	121412	2	33	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPH3A	22895	broad.mit.edu	37	12	113328755	113328755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113328755C>T	ENST00000389385.4	+	19	2219	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C|RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000548866.1_Silent_p.C525C|RPH3A_ENST00000447659.2_Silent_p.C525C|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.C574C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A			47					TCATACGCTGCGTGCACCTGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000389385.4	1	1	hg19	CCDS44979.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	1	0	1	47	121	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	1	47	118	0	31	2								-20.000000	1	1	121412	4	35	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OAS3	4940	broad.mit.edu	37	12	113405976	113405976	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113405976C>T	ENST00000228928.7	+	14	3280	c.3101C>T	c.(3100-3102)cCc>cTc	p.P1034L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa			27					CTTCAGAAGCCCAGGTTCAGG	0.502000																								0							SO:0001583	missense			ENST00000228928.7	1	1	hg19	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273682	0.40194	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.43688	0.94	4.88	3.99	0.46301	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.48732	0.1516	M	0.82517	2.595	0.80722	D	1	P	0.50617	0.937	P	0.45428	0.48	T	0.55823	-0.8080	9	0.66056	D	0.02	.	8.9477	0.35769	0.0:0.899:0.0:0.101	.	1034	Q9Y6K5	OAS3_HUMAN	L	1034;1033	ENSP00000228928:P1034L	ENSP00000228928:P1034L	P	+	2	0	OAS3	111890359	0.807000	0.29009	0.936000	0.37596	0.082000	0.17680	1.627000	0.37050	1.270000	0.44297	-0.136000	0.14681	CCC		TCGA-IB-7651-01A-11D-2154-08	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1	1	0	1	43	112	0	36	1	1	66	174	0	36	2		0	0	0	0	0	2	1	1	43	112	0	36	2								-5.378753	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OAS3	4940	broad.mit.edu	37	12	113407771	113407771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113407771C>A	ENST00000228928.7	+	16	3436	c.3257C>A	c.(3256-3258)gCt>gAt	p.A1086D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa			27					CCCCAGGCTGCTGTGTGAAGT	0.502000																								0							SO:0001583	missense			ENST00000228928.7	0	1	hg19	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160159	0.21454	.	.	ENSG00000111331	ENST00000228928;ENST00000323881;ENST00000549918	T	0.08282	3.11	2.58	2.58	0.30949	-oligoadenylate synthetase 1, domain 2/C-terminal (1);-5&apos (1);2&apos (1);	.	.	.	.	T	0.09555	0.0235	M	0.64080	1.96	0.32173	N	0.581369	P	0.34587	0.458	B	0.31614	0.133	T	0.05037	-1.0910	9	0.44086	T	0.13	.	8.7834	0.34804	0.0:1.0:0.0:0.0	.	1086	Q9Y6K5	OAS3_HUMAN	D	1086;1085;65	ENSP00000228928:A1086D	ENSP00000228928:A1086D	A	+	2	0	OAS3	111892154	0.017000	0.18338	0.779000	0.31741	0.071000	0.16799	0.341000	0.19909	1.768000	0.52137	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1	1	0	1	10	47	0	12	1	9.999989e-01	51	122	0	12	2		0	0	0	0	0	2	1	9.975299e-01	10	46	0	12	2								-18.984820	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	0.999435	0.990000	1	9.900000e-01	1
DTX1	1840	broad.mit.edu	37	12	113496015	113496015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496015C>T	ENST00000257600.3	+	1	521	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase			32					GGCCAGGCCACGGTGGGCTGA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000257600.3	1	1	hg19	CCDS9164.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2	1	0	0	34	115	0	24	0	9.340264e-01	0	18	0	24	2		0	0	0	0	0	2	1	1	33	110	0	24	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DTX1	1840	broad.mit.edu	37	12	113496122	113496122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496122C>T	ENST00000257600.3	+	1	628	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase			32					CCCTACACGGCCACCGTGTGC	0.647000																								0							SO:0001583	missense			ENST00000257600.3	1	1	hg19	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191844	0.94923	.	.	ENSG00000135144	ENST00000257600	T	0.44083	0.93	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.48003	0.1476	M	0.64404	1.975	0.49299	D	0.999773	P	0.49447	0.924	P	0.47673	0.554	T	0.54470	-0.8289	10	0.51188	T	0.08	-6.7008	14.8783	0.70513	0.0:1.0:0.0:0.0	.	42	Q86Y01	DTX1_HUMAN	V	42	ENSP00000257600:A42V	ENSP00000257600:A42V	A	+	2	0	DTX1	111980505	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.403000	0.66338	2.021000	0.59480	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2	1	0	1	125	376	0	81	0	9.995654e-01	0	36	0	81	2		0	0	0	0	0	2	1	1	124	371	0	80	2								-20.000000	1	0	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DTX1	1840	broad.mit.edu	37	12	113496220	113496220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496220G>A	ENST00000257600.3	+	1	726	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase			32					CTACATCATCGACCTGCAGTC	0.637000																								0							SO:0001583	missense			ENST00000257600.3	1	1	hg19	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301233	0.95601	.	.	ENSG00000135144	ENST00000257600	T	0.56941	0.43	4.05	4.05	0.47172	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.69823	2.125	0.51012	D	0.999909	D	0.76494	0.999	D	0.83275	0.996	T	0.70241	-0.4926	10	0.36615	T	0.2	-5.2327	15.2014	0.73139	0.0:0.0:1.0:0.0	.	75	Q86Y01	DTX1_HUMAN	N	75	ENSP00000257600:D75N	ENSP00000257600:D75N	D	+	1	0	DTX1	111980603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.104000	0.64026	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2	0	0	1	117	569	1	120	0	9.609615e-01	0	37	1	120	3		0	0	0	0	0	2	1	1	117	555	0	119	2								-20.000000	1	0	121408	2	34	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DTX1	1840	broad.mit.edu	37	12	113534527	113534527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113534527G>A	ENST00000257600.3	+	9	2149	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	p.R549Q(1)		32					CAGGTGCTGCGGCTGCTCATC	0.647000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000257600.3	0	1	hg19	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700355	0.48307	4.54E-4	0.0	ENSG00000135144	ENST00000257600	T	0.23754	1.89	4.86	3.97	0.46021	.	0.066614	0.64402	D	0.000018	T	0.21631	0.0521	L	0.43923	1.385	0.38129	D	0.938091	B	0.22480	0.07	B	0.23716	0.048	T	0.07462	-1.0771	10	0.45353	T	0.12	1.3252	9.057	0.36412	0.1793:0.0:0.8207:0.0	.	549	Q86Y01	DTX1_HUMAN	Q	549	ENSP00000257600:R549Q	ENSP00000257600:R549Q	R	+	2	0	DTX1	112018910	1.000000	0.71417	0.448000	0.26945	0.967000	0.64934	4.614000	0.61183	1.036000	0.39998	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2	1	0	0	6	115	0	24	1	9.388319e-01	3	96	0	24	2		0	0	0	0	0	2	1	9.634566e-01	6	112	0	23	2								-9.469537	1	1	121402	8	36	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.780000	0.300000	1.000000	1.000000	0.765046	0.780000	0	4.900000e-01	1
RASAL1	8437	broad.mit.edu	37	12	113537779	113537779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113537779C>A	ENST00000261729.5	-	22	2685	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H|RASAL1_ENST00000546530.1_Missense_Mutation_p.Q792H			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)			43					GCTCCTGCTGCTGGAACTCCT	0.672000																								0							SO:0001583	missense			ENST00000261729.5	1	1	hg19	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	c	15.57	2.873304	0.51695	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69685	-0.42;-0.34;-0.4;-0.42	5.4	5.4	0.78164	.	0.351753	0.29486	N	0.012005	T	0.75568	0.3867	L	0.54323	1.7	0.34609	D	0.717338	D;D;D;D	0.58970	0.984;0.984;0.973;0.98	P;P;P;P	0.59056	0.851;0.851;0.713;0.804	T	0.82255	-0.0548	10	0.54805	T	0.06	.	16.1599	0.81698	0.0:1.0:0.0:0.0	.	791;792;790;762	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	H	792;790;762;791	ENSP00000450244:Q792H;ENSP00000261729:Q790H;ENSP00000395920:Q762H;ENSP00000448510:Q791H	ENSP00000261729:Q790H	Q	-	3	2	RASAL1	112022162	1.000000	0.71417	0.935000	0.37517	0.058000	0.15608	3.118000	0.50414	2.543000	0.85770	0.450000	0.29827	CAG		TCGA-IB-7651-01A-11D-2154-08	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	0	0	0	14	380	0	49	0	7.549321e-01	1	74	0	49	2		0	0	0	0	0	2	1	9.997431e-01	14	375	0	49	2								-13.741400	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.520000	0.270000	1.000000	0.460000	0.605346	0.520000	0	3.800000e-01	1
RASAL1	8437	broad.mit.edu	37	12	113545942	113545942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113545942C>T	ENST00000261729.5	-	15	1775	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q|RASAL1_ENST00000546530.1_Missense_Mutation_p.R488Q			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)			43					GTGTTGGTCCCGAAGGTCAAA	0.557000																								0							SO:0001583	missense			ENST00000261729.5	1	1	hg19	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096439	0.76870	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.0	5.0	0.66597	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.110844	0.64402	D	0.000017	T	0.78868	0.4351	L	0.56396	1.775	0.54753	D	0.999981	P;P;P;P;P;P;P	0.52316	0.743;0.532;0.698;0.902;0.852;0.952;0.88	B;B;B;B;B;P;B	0.45971	0.2;0.221;0.126;0.319;0.263;0.499;0.213	T	0.82514	-0.0419	10	0.72032	D	0.01	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	487;487;487;500;488;487;487	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	488;487;487;487	ENSP00000450244:R488Q;ENSP00000261729:R487Q;ENSP00000395920:R487Q;ENSP00000448510:R487Q	ENSP00000261729:R487Q	R	-	2	0	RASAL1	112030325	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.280000	0.78610	2.323000	0.78572	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	1	0	1	49	150	0	39	1	9.999999e-01	46	33	0	39	2		0	0	0	0	0	2	1	1	48	143	0	39	2								-4.113594	1	1	121412	2	30	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASAL1	8437	broad.mit.edu	37	12	113553024	113553024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113553024G>A	ENST00000261729.5	-	12	1364	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L|RASAL1_ENST00000546530.1_Missense_Mutation_p.S350L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)			43					CTGTTCCATCGACTTGGATGC	0.572000																								0							SO:0001583	missense			ENST00000261729.5	1	1	hg19	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029248	0.93518	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.78	4.78	0.61160	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.192965	0.46442	D	0.000297	T	0.79975	0.4539	L	0.37750	1.13	0.44745	D	0.997741	P;P;P;P;P;D;P	0.60160	0.953;0.889;0.942;0.953;0.873;0.987;0.942	P;P;B;P;B;P;B	0.56700	0.557;0.653;0.422;0.557;0.404;0.804;0.422	T	0.81673	-0.0826	10	0.52906	T	0.07	.	16.5796	0.84711	0.0:0.0:1.0:0.0	.	350;350;350;362;350;350;350	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	L	350	ENSP00000450244:S350L;ENSP00000261729:S350L;ENSP00000395920:S350L;ENSP00000448510:S350L	ENSP00000261729:S350L	S	-	2	0	RASAL1	112037407	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.312000	0.78968	2.205000	0.71048	0.491000	0.48974	TCG		TCGA-IB-7651-01A-11D-2154-08	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	1	0	1	148	789	0	156	1	9.999134e-01	32	40	0	156	2		0	0	0	0	0	2	1	1	147	777	0	153	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASAL1	8437	broad.mit.edu	37	12	113556937	113556937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113556937C>T	ENST00000261729.5	-	8	953	c.638G>A	c.(637-639)gGc>gAc	p.G213D	RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D|RASAL1_ENST00000546530.1_Missense_Mutation_p.G213D			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)			43					GCTCACCATGCCCAAGAAGTC	0.612000																								0							SO:0001583	missense			ENST00000261729.5	1	1	hg19	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069803	0.93950	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.49	5.49	0.81192	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057398	0.64402	D	0.000001	D	0.98795	0.9594	H	0.98446	4.235	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99581	1.0973	10	0.87932	D	0	.	18.1326	0.89606	0.0:1.0:0.0:0.0	.	213;213;213;225;213;213;213	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	D	213	ENSP00000450244:G213D;ENSP00000261729:G213D;ENSP00000395920:G213D;ENSP00000448510:G213D	ENSP00000261729:G213D	G	-	2	0	RASAL1	112041320	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.389000	0.79806	2.592000	0.87571	0.511000	0.50034	GGC		TCGA-IB-7651-01A-11D-2154-08	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	0	0	0	21	981	0	197	1	2.429660e-01	4	39	0	197	2		0	0	0	0	0	2	1	9.999967e-01	19	962	0	193	2								-2.642191	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.290000	0.170000	1.000000	0.260000	0.447303	0.290000	0	2.200000e-01	1
DDX54	79039	broad.mit.edu	37	12	113599090	113599090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113599090G>A	ENST00000306014.5	-	19	2425	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	DDX54_ENST00000549271.1_5'UTR|DDX54_ENST00000314045.7_Nonsense_Mutation_p.R800*	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54			31					CCACGGTCTCGCTTCCCACCT	0.572000																								0							SO:0001587	stop_gained			ENST00000306014.5	0	1	hg19	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	37	6.605751	0.97701	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	.	.	.	4.79	-0.117	0.13551	.	0.233607	0.35291	N	0.003304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7572	0.08589	0.0886:0.1214:0.4372:0.3529	.	.	.	.	X	800	.	ENSP00000304072:R800X	R	-	1	2	DDX54	112083473	0.000000	0.05858	0.990000	0.47175	0.597000	0.36814	0.426000	0.21363	0.395000	0.25257	0.491000	0.48974	CGA		TCGA-IB-7651-01A-11D-2154-08	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	1	0	1	67	299	0	47	1	1	48	220	0	47	2		0	0	0	0	0	2	1	1	65	291	0	47	2								-3.331047	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX54	79039	broad.mit.edu	37	12	113603721	113603721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113603721C>T	ENST00000306014.5	-	13	1558	c.1531G>A	c.(1531-1533)Gtt>Att	p.V511I	DDX54_ENST00000314045.7_Missense_Mutation_p.V511I	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54			31					TTATCAGCAACGCGGGCCAGG	0.662000																								0							SO:0001583	missense			ENST00000306014.5	1	1	hg19	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895350	0.33442	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.14144	2.53;2.53	4.69	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.80028	2.48	0.53005	D	0.999967	P;P	0.45283	0.855;0.773	B;B	0.38020	0.263;0.135	T	0.08166	-1.0735	10	0.54805	T	0.06	.	12.58	0.56386	0.0:0.9185:0.0:0.0815	.	511;511	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	I	511	ENSP00000323858:V511I;ENSP00000304072:V511I	ENSP00000304072:V511I	V	-	1	0	DDX54	112088104	0.990000	0.36364	0.246000	0.24233	0.002000	0.02628	2.884000	0.48562	1.188000	0.43014	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	1	0	1	102	302	0	63	1	1	85	110	0	63	2		0	0	0	0	0	2	1	1	102	296	0	61	2								-20.000000	1	1	121408	6	38	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C12orf52	0	broad.mit.edu	37	12	113629192	113629192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113629192C>T	ENST00000548278.1	+	4	1072	c.380C>T	c.(379-381)cCg>cTg	p.P127L	C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN				5					TTCGGGGCCCCGCGGATGGCG	0.647000																								0							SO:0001583	missense			ENST00000548278.1	0	1	hg19	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	C	7.859	0.725635	0.15439	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.49720	0.82;0.82;0.77	4.39	3.48	0.39840	.	0.651748	0.13491	N	0.383941	T	0.50582	0.1624	M	0.66939	2.045	0.09310	N	1	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.48030	0.564;0.564;0.564	T	0.39313	-0.9620	10	0.42905	T	0.14	-0.7116	9.4921	0.38967	0.2107:0.7893:0.0:0.0	.	127;151;127	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	L	127;127;151;127;127;124	ENSP00000448289:P127L;ENSP00000449841:P127L;ENSP00000448680:P151L	ENSP00000266813:P124L	P	+	2	0	C12orf52	112113575	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	1.496000	0.35638	1.032000	0.39892	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1	0	0	0	8	290	0	42	1	9.106135e-01	6	151	0	42	2		0	0	0	0	0	2	1	9.884057e-01	7	283	0	40	2								-3.415215	1	1	121390	3	31	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.410000	0.180000	1.000000	0.340000	0.526119	0.410000	0	2.700000e-01	1
TPCN1	53373	broad.mit.edu	37	12	113698178	113698178	+	Missense_Mutation	SNP	G	G	A	rs138959802	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113698178G>A	ENST00000335509.6	+	3	432	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	TPCN1_ENST00000550785.1_Missense_Mutation_p.G112S|TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S|TPCN1_ENST00000392569.4_5'UTR	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1			40					TGCAGATGGCGGCAGCTATGC	0.552000																								0							SO:0001583	missense			ENST00000335509.6	1	1	hg19	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086673	0.55861	0.001362	0.0	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000335509;ENST00000550785;ENST00000541517	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	4.38	3.49	0.39957	.	0.294004	0.32608	N	0.005863	T	0.38081	0.1027	M	0.62723	1.935	0.46149	D	0.998893	B;B	0.26081	0.141;0.026	B;B	0.28784	0.094;0.015	T	0.13926	-1.0491	10	0.19590	T	0.45	-17.5962	10.5864	0.45286	0.0896:0.0:0.9104:0.0	.	112;40	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	16;95;126;40;112;40;112;112	ENSP00000447806:G16S;ENSP00000449560:G95S;ENSP00000447569:G126S;ENSP00000447073:G40S;ENSP00000447263:G112S;ENSP00000335300:G40S;ENSP00000448083:G112S;ENSP00000438125:G112S	ENSP00000335300:G40S	G	+	1	0	TPCN1	112182561	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.386000	0.52492	1.074000	0.40909	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	1	0	1	38	238	0	67	1	9.999791e-01	29	76	0	67	2		0	0	0	0	0	2	1	1	36	232	0	66	2								-2.808737	1	1	121412	8	39	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
TPCN1	53373	broad.mit.edu	37	12	113729700	113729700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113729700G>A	ENST00000335509.6	+	25	2364	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T	TPCN1_ENST00000550785.1_Missense_Mutation_p.A756T|TPCN1_ENST00000541517.1_Missense_Mutation_p.A756T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1			40					GATCATTGTCGCCTTTATCCT	0.597000																								0							SO:0001583	missense			ENST00000335509.6	0	1	hg19	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	36	5.599683	0.96614	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	D	0.98389	1.0562	10	0.87932	D	0	-36.4881	19.0502	0.93039	0.0:0.0:1.0:0.0	.	756;684	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	T	684;756;756;616	ENSP00000335300:A684T;ENSP00000448083:A756T;ENSP00000438125:A756T;ENSP00000376350:A616T	ENSP00000335300:A684T	A	+	1	0	TPCN1	112214083	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	9.199000	0.95003	2.560000	0.86352	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	0	0	0	9	478	0	76	1	8.384139e-01	5	173	0	76	2		0	0	0	0	0	2	1	9.934316e-01	8	464	0	76	2								-3.354617	1	1	121412	1	29	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.280000	0.120000	1.000000	0.230000	0.432012	0.280000	0	1.800000e-01	1
ERC1	23085	broad.mit.edu	37	12	1137623	1137623	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1137623G>T	ENST00000397203.2	+	2	960	c.554G>T	c.(553-555)aGc>aTc	p.S185I	ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1			38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		TCAATGAATAGCATCAAGACC	0.428000																								0							SO:0001583	missense			ENST00000397203.2	1	1	hg19	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.020112	0.54576	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.66	5.66	0.87406	.	0.091385	0.85682	D	0.000000	T	0.70518	0.3233	M	0.74647	2.275	0.49299	D	0.999773	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.952;0.965;0.99	T	0.70781	-0.4779	10	0.52906	T	0.07	-12.3985	19.7395	0.96220	0.0:0.0:1.0:0.0	.	185;185;185	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	I	185	ENSP00000340054:S185I;ENSP00000380386:S185I;ENSP00000438546:S185I;ENSP00000445336:S185I;ENSP00000442976:S185I;ENSP00000442739:S185I;ENSP00000347621:S185I;ENSP00000354158:S185I;ENSP00000410064:S185I	ENSP00000299183:S185I	S	+	2	0	ERC1	1007884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.147000	0.71783	2.669000	0.90835	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1	50	258	0	64	1	9.675848e-01	6	25	0	64	2		0	0	0	0	0	2	1	1	50	258	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PLBD2	196463	broad.mit.edu	37	12	113810480	113810480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113810480G>A	ENST00000280800.3	+	3	442	c.411G>A	c.(409-411)acG>acA	p.T137T	PLBD2_ENST00000545182.2_Silent_p.T137T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2			13					GGATGAACACGGTGGTGAATT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000280800.3	1	1	hg19	CCDS9168.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	1	0	1	140	804	0	144	1	1	17	127	0	144	2		0	0	0	0	0	2	1	1	139	781	0	142	2								-2.287395	0	1	121412	2	35	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLBD2	196463	broad.mit.edu	37	12	113822071	113822071	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113822071G>A	ENST00000280800.3	+	7	1149		c.e7+1		PLBD2_ENST00000545182.2_Splice_Site	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2			13					ACAGCGGCACGTGAGTGGGCT	0.622000																								0							SO:0001630	splice_region_variant			ENST00000280800.3	0	1	hg19	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529805	0.64860	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2668	0.90054	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLBD2	112306454	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.747000	0.85070	2.306000	0.77630	0.305000	0.20034	.		TCGA-IB-7651-01A-11D-2154-08	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	0	0	0	8	335	0	68	0	7.539583e-04	0	2	0	68	2		0	0	0	0	0	2	1	9.887967e-01	7	330	0	67	2								-8.161150	1	0	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.360000	0.150000	1.000000	0.310000	0.487580	0.360000	0	2.300000e-01	1
PLBD2	196463	broad.mit.edu	37	12	113824778	113824778	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113824778G>A	ENST00000280800.3	+	10	1354	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	PLBD2_ENST00000545182.2_Silent_p.Q409Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2			13					GTGGGCTGCAGGCCCTAGTGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000280800.3	1	1	hg19	CCDS9168.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	1	0	0	21	450	0	70	1	9.962479e-01	6	185	0	70	2		0	0	0	0	0	2	1	9.999970e-01	21	440	0	69	2								-19.937760	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.630000	0.380000	1.000000	0.580000	0.691841	0.630000	0	4.900000e-01	1
PLBD2	196463	broad.mit.edu	37	12	113825591	113825591	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113825591C>A	ENST00000280800.3	+	11	1513	c.1482C>A	c.(1480-1482)gcC>gcA	p.A494A	PLBD2_ENST00000545182.2_Silent_p.A462A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2			13					TGTGCAAAGCCTGCAACCCCC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000280800.3	1	1	hg19	CCDS9168.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	1	0	0	103	2382	0	490	1	9.988321e-01	8	213	0	490	2		0	0	0	0	0	2	1	1	103	2324	0	486	2								-5.855368	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.550000	0.440000	1.000000	0.550000	0.647303	0.550000	0	4.900000e-01	1
PRB3	5544	broad.mit.edu	37	12	11420871	11420871	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11420871T>C	ENST00000279573.7	-	3	447	c.312A>G	c.(310-312)ccA>ccG	p.P104P	PRB3_ENST00000381842.3_Silent_p.P104P|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Silent_p.P104P			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3			25			OV - Ovarian serous cystadenocarcinoma(49;0.201)		TTCCTCCTTGTGGGGGTTGTC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000279573.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	0	0	1	381	1620	1	402		0	0	0	1	402	2		0	0	0	0	0	2	1	1	342	1382	1	404	16								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM19	9904	broad.mit.edu	37	12	114282486	114282486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114282486G>A	ENST00000545145.2	-	23	2850	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	RBM19_ENST00000261741.5_Silent_p.A924A|RBM19_ENST00000392561.3_Silent_p.A924A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19			55	Medulloblastoma(191;0.163)|all_neural(191;0.178)				GAAAGTGAGCGGCCGTCTTCC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000545145.2	1	1	hg19	CCDS9172.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	1	0	1	44	111	0	26	1	9.999997e-01	14	51	0	26	2		0	0	0	0	0	2	1	1	44	108	0	25	2								-20.000000	1	1	121392	2	35	1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM19	9904	broad.mit.edu	37	12	114377943	114377943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114377943G>A	ENST00000545145.2	-	15	1838	c.1760C>T	c.(1759-1761)aCt>aTt	p.T587I	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.T587I|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19			55	Medulloblastoma(191;0.163)|all_neural(191;0.178)				CAGAATCACAGTCTTGCTTCG	0.637000																								0							SO:0001583	missense			ENST00000545145.2	1	1	hg19	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647010	0.67358	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06294	3.32;3.32;3.32	4.3	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.254274	0.37761	N	0.001945	T	0.29652	0.0740	M	0.93328	3.405	0.49915	D	0.999838	P	0.51240	0.943	P	0.55999	0.789	T	0.48007	-0.9072	10	0.62326	D	0.03	-12.7428	16.7648	0.85521	0.0:0.0:1.0:0.0	.	587	Q9Y4C8	RBM19_HUMAN	I	587	ENSP00000442053:T587I;ENSP00000376344:T587I;ENSP00000261741:T587I	ENSP00000261741:T587I	T	-	2	0	RBM19	112862326	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	4.823000	0.62694	1.964000	0.57103	0.561000	0.74099	ACT		TCGA-IB-7651-01A-11D-2154-08	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	1	0	0	67	643	0	116	1	9.857993e-01	9	56	0	116	2		0	0	0	0	0	2	1	1	65	635	0	116	2								-20.000000	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.990000	0.970000	1.000000	1.000000	0.998369	0.990000	1	9.900000e-01	1
RBM19	9904	broad.mit.edu	37	12	114385222	114385222	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114385222G>T	ENST00000545145.2	-	11	1402	c.1324C>A	c.(1324-1326)Ccc>Acc	p.P442T	RBM19_ENST00000261741.5_Missense_Mutation_p.P442T|RBM19_ENST00000392561.3_Missense_Mutation_p.P442T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19			55	Medulloblastoma(191;0.163)|all_neural(191;0.178)				AAACCCTTGGGTTTCTTGGTC	0.602000																								0							SO:0001583	missense			ENST00000545145.2	0	1	hg19	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585491	0.28268	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06371	3.31;3.31;3.31	5.15	4.24	0.50183	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116307	0.64402	D	0.000014	T	0.08088	0.0202	L	0.33245	0.995	0.52099	D	0.999942	B	0.24186	0.099	B	0.36378	0.223	T	0.29458	-1.0011	10	0.19147	T	0.46	-24.7373	14.8359	0.70183	0.0:0.0:0.8547:0.1453	.	442	Q9Y4C8	RBM19_HUMAN	T	442	ENSP00000442053:P442T;ENSP00000376344:P442T;ENSP00000261741:P442T	ENSP00000261741:P442T	P	-	1	0	RBM19	112869605	1.000000	0.71417	0.926000	0.36857	0.982000	0.71751	6.171000	0.71926	1.141000	0.42275	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	0	0	0	11	341	0	58	1	7.594951e-01	6	80	0	58	2		0	0	0	0	0	2	1	9.980567e-01	11	329	0	58	2								-11.451580	1	1	0	0		1	2	2	4	2.189533	1	0.170000	2.060000	2.491406e-01	0.460000	0.230000	1.000000	0.400000	0.565387	0.460000	0	3.200000e-01	1
TBX3	6926	broad.mit.edu	37	12	115120759	115120759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:115120759G>A	ENST00000257566.3	-	1	636	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	TBX3_ENST00000349155.2_Missense_Mutation_p.P83S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3			47	Medulloblastoma(191;0.163)|all_neural(191;0.178)				TGCGCCTGGGGCCCCAGGGAG	0.657000																								0							SO:0001583	missense			ENST00000257566.3	1	1	hg19	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997824	0.35226	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87103	-2.21;-2.21	5.17	5.17	0.71159	.	0.140152	0.64402	D	0.000004	T	0.77363	0.4119	N	0.12182	0.205	0.41046	D	0.985269	B;B;B	0.25719	0.003;0.132;0.018	B;B;B	0.35278	0.002;0.199;0.014	T	0.71461	-0.4586	10	0.07482	T	0.82	.	14.416	0.67151	0.0:0.0:0.8519:0.1481	.	83;83;83	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	S	83	ENSP00000257567:P83S;ENSP00000257566:P83S	ENSP00000257566:P83S	P	-	1	0	TBX3	113605142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.419000	0.82065	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	1	0	1	67	223	0	38	1	9.821313e-01	8	16	0	38	2		0	0	0	0	0	2	1	1	66	214	0	35	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
MED13L	23389	broad.mit.edu	37	12	116410035	116410035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116410035C>T	ENST00000281928.3	-	26	5944	c.5738G>A	c.(5737-5739)aGt>aAt	p.S1913N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like			85	all_neural(191;0.117)|Medulloblastoma(191;0.163)				AAGGAGGATACTCCAATCTGA	0.418000																								0							SO:0001583	missense			ENST00000281928.3	1	1	hg19	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879851	0.91740	.	.	ENSG00000123066	ENST00000281928	D	0.83755	-1.76	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.91573	0.5273	10	0.66056	D	0.02	-12.2036	18.3134	0.90208	0.0:1.0:0.0:0.0	.	1913	Q71F56	MD13L_HUMAN	N	1913	ENSP00000281928:S1913N	ENSP00000281928:S1913N	S	-	2	0	MED13L	114894418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.631000	0.89168	0.563000	0.77884	AGT		TCGA-IB-7651-01A-11D-2154-08	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	1	0	1	65	293	0	49	1	9.999835e-01	4	71	0	49	2		0	0	0	0	0	2	1	1	64	289	0	49	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED13L	23389	broad.mit.edu	37	12	116421119	116421119	+	Silent	SNP	C	C	T	rs141818426	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116421119C>T	ENST00000281928.3	-	21	4964	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like			85	all_neural(191;0.117)|Medulloblastoma(191;0.163)				ACGATGAGACCGGTGGCACAG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000281928.3	1	0	hg19	CCDS9177.1	9	0.004120879120879121	1	0.0020325203252032522	0	0.0	8	0.013986013986013986	0	0.0	C	8.603	0.887370	0.17540	6.81E-4	0.0	ENSG00000123066	ENST00000549786	.	.	.	5.87	-10.4	0.00318	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.12016	-1.0564	4	.	.	.	.	4.4952	0.11833	0.0789:0.2318:0.3869:0.3024	.	.	.	.	Q	41	.	.	R	-	2	0	MED13L	114905502	0.000000	0.05858	0.081000	0.20488	0.999000	0.98932	-2.537000	0.00939	-1.928000	0.01059	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	1	0	1	65	300	0	74	1	9.999946e-01	8	76	0	74	2		0	0	0	0	0	2	1	1	64	295	0	74	2								-2.889705	1	1	121412	113	52	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED13L	23389	broad.mit.edu	37	12	116446921	116446921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116446921G>A	ENST00000281928.3	-	10	1503	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like			85	all_neural(191;0.117)|Medulloblastoma(191;0.163)				ACTGCACAACGTTTTAAAAGC	0.383000																								0							SO:0001583	missense			ENST00000281928.3	1	1	hg19	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824145	0.50739	.	.	ENSG00000123066	ENST00000281928	T	0.74842	-0.88	5.76	5.76	0.90799	.	0.330564	0.34484	N	0.003940	D	0.83788	0.5330	M	0.64404	1.975	0.58432	D	0.999999	D	0.89917	1.0	P	0.61722	0.893	T	0.82602	-0.0376	10	0.45353	T	0.12	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	433	Q71F56	MD13L_HUMAN	C	433	ENSP00000281928:R433C	ENSP00000281928:R433C	R	-	1	0	MED13L	114931304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.974000	0.70465	2.732000	0.93576	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	1	0	1	68	287	0	72	1	9.999944e-01	15	62	0	72	2		0	0	0	0	0	2	1	1	65	281	0	70	2								-20.000000	1	1	121398	4	34	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED13L	23389	broad.mit.edu	37	12	116714891	116714891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116714891C>T	ENST00000281928.3	-	1	252	c.46G>A	c.(46-48)Gat>Aat	p.D16N	MED13L_ENST00000551197.1_5'Flank	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like			85	all_neural(191;0.117)|Medulloblastoma(191;0.163)				GAGTGACAATCCTCCAGGCTC	0.716000																								0							SO:0001583	missense			ENST00000281928.3	0	1	hg19	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506221	0.64410	.	.	ENSG00000123066	ENST00000281928	D	0.87256	-2.23	2.44	1.51	0.23008	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	1.203760	0.06820	N	0.792134	D	0.86543	0.5958	M	0.81341	2.54	0.31603	N	0.652473	B	0.16396	0.017	B	0.09377	0.004	T	0.77582	-0.2534	10	0.62326	D	0.03	.	6.5042	0.22186	0.0:0.8402:0.0:0.1598	.	16	Q71F56	MD13L_HUMAN	N	16	ENSP00000281928:D16N	ENSP00000281928:D16N	D	-	1	0	MED13L	115199274	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	5.716000	0.68437	0.137000	0.18759	0.385000	0.25706	GAT		TCGA-IB-7651-01A-11D-2154-08	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	0	0	0	7	34	0	11	1	9.358995e-01	5	22	0	11	2		0	0	0	0	0	2	1	9.839208e-01	7	34	0	11	2								-14.991890	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.810000	1.000000	1.000000	0.988746	0.990000	1	9.900000e-01	1
MAP1LC3B2	643246	broad.mit.edu	37	12	117013978	117013978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117013978G>A	ENST00000556529.1	+	1	323	c.231G>A	c.(229-231)caG>caA	p.Q77Q	MAP1LC3B2_ENST00000306985.4_Silent_p.Q77Q			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2			6					ATGCTAATCAGGCCTTCTTCC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000556529.1	1	1	hg19	CCDS41841.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	1	0	1	116	508	0	104	0	9.072253e-01	0	20	0	104	2		0	0	0	0	0	2	1	1	109	473	0	116	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C12orf49	79794	broad.mit.edu	37	12	117155658	117155658	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117155658T>G	ENST00000261318.3	-	5	735	c.575A>C	c.(574-576)aAg>aCg	p.K192T	C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T|C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49			4	all_neural(191;0.117)|Medulloblastoma(191;0.163)				ATAGCAATACTTTGCTATGGG	0.587000																								0							SO:0001583	missense			ENST00000261318.3	0	1	hg19	CCDS9179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.848629|4.848629	0.91277|0.91277	.|.	.|.	ENSG00000111412|ENSG00000111412	ENST00000261318;ENST00000548356;ENST00000536380|ENST00000547606	T|.	0.54675|.	0.56|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79203|0.79203	0.4406|0.4406	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.81944|0.81944	-0.0701|-0.0701	10|5	0.72032|.	D|.	0.01|.	-40.1457|-40.1457	15.6027|15.6027	0.76636|0.76636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	162;192|.	F5H6Y2;Q9H741|.	.;CL049_HUMAN|.	T|R	192;33;162|30	ENSP00000261318:K192T|.	ENSP00000261318:K192T|.	K|S	-|-	2|1	0|0	C12orf49|C12orf49	115640041|115640041	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	7.884000|7.884000	0.87274|0.87274	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	AAG|AGT		TCGA-IB-7651-01A-11D-2154-08	C12orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403847.1	1	0	1	13	60	0	12	1	9.999000e-01	27	58	0	12	2		0	0	0	0	0	2	1	9.996733e-01	13	59	0	12	2								-19.999890	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998705	0.990000	1	9.900000e-01	1
RNFT2	84900	broad.mit.edu	37	12	117187661	117187661	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117187661G>A	ENST00000257575.4	+	4	332	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RNFT2_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000407967.3_Silent_p.A33A|RNFT2_ENST00000319176.7_Silent_p.A33A			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2			6	all_neural(191;0.117)|Medulloblastoma(191;0.163)				GCAGCCAGGCGCTCAGCTCCG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000257575.4	0	1	hg19	CCDS44987.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	1	0	1	6	26	0	9	0	4.705882e-02	0	2	0	9	2		0	0	0	0	0	2	1	9.701648e-01	6	26	0	9	2								-13.460690	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.790000	1.000000	1.000000	0.987499	0.990000	1	9.900000e-01	1
FBXW8	26259	broad.mit.edu	37	12	117423069	117423069	+	Silent	SNP	C	C	T	rs138454816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117423069C>T	ENST00000309909.5	+	6	976	c.894C>T	c.(892-894)caC>caT	p.H298H	RP11-231I16.1_ENST00000548738.1_RNA|FBXW8_ENST00000551773.1_3'UTR|FBXW8_ENST00000455858.2_Silent_p.H232H			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8			22	all_neural(191;0.117)|Medulloblastoma(191;0.163)				GTTTTGAGCACGATGCAAGAA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000309909.5	1	0	hg19	CCDS9182.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	1	0	1	48	193	0	44	1	9.920439e-01	10	23	0	44	2		0	0	0	0	0	2	1	1	48	190	0	44	2								-2.404697	0	1	121412	476	59	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TESC	54997	broad.mit.edu	37	12	117484630	117484630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117484630C>T	ENST00000335209.7	-	5	549	c.363G>A	c.(361-363)atG>atA	p.M121I	TESC_ENST00000392545.4_Missense_Mutation_p.M174I|TESC_ENST00000541210.1_Missense_Mutation_p.M94I|TESC_ENST00000535198.1_5'UTR			Q96BS2	CHP3_HUMAN	tescalcin			6	all_neural(191;0.117)|Medulloblastoma(191;0.163)				CCGAGTCGTACATGTGGAACA	0.592000																								0							SO:0001583	missense			ENST00000335209.7	0	1	hg19	CCDS9183.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.86|17.86	3.492545|3.492545	0.64074|0.64074	.|.	.|.	ENSG00000088992|ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210|ENST00000549210	T;T;T|.	0.68025|.	-0.3;-0.3;-0.3|.	4.68|4.68	4.68|4.68	0.58851|0.58851	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.38733|0.38733	1.17|1.17	0.80722|0.80722	D|D	1|1	B|.	0.19817|.	0.039|.	B|.	0.28709|.	0.093|.	T|T	0.56013|0.56013	-0.8049|-0.8049	10|5	0.45353|.	T|.	0.12|.	-25.979|-25.979	17.3511|17.3511	0.87324|0.87324	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	121|.	Q96BS2|.	TESC_HUMAN|.	I|I	121;174;94|3	ENSP00000334785:M121I;ENSP00000376328:M174I;ENSP00000445689:M94I|.	ENSP00000334785:M121I|.	M|V	-|-	3|1	0|0	TESC|TESC	115969013|115969013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.485000|4.485000	0.60279|0.60279	2.434000|2.434000	0.82447|0.82447	0.555000|0.555000	0.69702|0.69702	ATG|GTA		TCGA-IB-7651-01A-11D-2154-08	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	0	0	0	7	26	0	8	1	1	1154	1220	0	8	2		0	0	0	0	0	2	1	9.847605e-01	7	26	0	8	2								-15.795540	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.910000	1.000000	1.000000	0.994121	0.990000	1	9.900000e-01	1
TESC	54997	broad.mit.edu	37	12	117494618	117494618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117494618C>T	ENST00000335209.7	-	3	388	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron|TESC_ENST00000535198.1_5'Flank			Q96BS2	CHP3_HUMAN	tescalcin	p.D121N(2)		6	all_neural(191;0.117)|Medulloblastoma(191;0.163)				CACCTGTTGTCGAAGAAGGCA	0.517000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000335209.7	1	1	hg19	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892513	0.91889	.	.	ENSG00000088992	ENST00000335209;ENST00000392545	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.72626	-0.4236	10	0.33940	T	0.23	-48.5903	17.4632	0.87625	0.0:1.0:0.0:0.0	.	68	Q96BS2	TESC_HUMAN	N	68;121	ENSP00000334785:D68N;ENSP00000376328:D121N	ENSP00000334785:D68N	D	-	1	0	TESC	115979001	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.745000	0.68672	2.401000	0.81631	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	1	0	1	59	309	0	69	1	1	1282	1262	0	69	2		0	0	0	0	0	2	1	1	58	304	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO21	23014	broad.mit.edu	37	12	117595739	117595739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117595739G>A	ENST00000330622.5	-	10	1476	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	FBXO21_ENST00000427718.2_Missense_Mutation_p.R486C			O94952	FBX21_HUMAN	F-box protein 21			29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TCATCGGAGCGCAGCTTCACC	0.587000													GBM(168;452 2038 13535 17701 43680)											0							SO:0001583	missense			ENST00000330622.5	1	1	hg19	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.977439|4.977439	0.92982|0.92982	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000550180|ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	.|T;T	.|0.58652	.|0.45;0.32	5.02|5.02	5.02|5.02	0.67125|0.67125	.|F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65260|0.65260	0.2674|0.2674	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|P;P;P;D	.|0.66196	.|0.908;0.886;0.719;0.942	T|T	0.69705|0.69705	-0.5073|-0.5073	5|10	.|0.87932	.|D	.|0	-13.0067|-13.0067	18.5372|18.5372	0.91014|0.91014	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|342;236;493;486	.|Q8IUQ5;B3KQC8;O94952;O94952-1	.|.;.;FBX21_HUMAN;.	V|C	369|486;402;342;493;145	.|ENSP00000414468:R486C;ENSP00000328187:R493C	.|ENSP00000257563:R402C	A|R	-|-	2|1	0|0	FBXO21|FBXO21	116080122|116080122	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	7.406000|7.406000	0.80017|0.80017	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	1	0	1	248	908	0	180	1	1	17	77	0	180	2		0	0	0	0	0	2	1	1	245	894	0	178	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOS1	4842	broad.mit.edu	37	12	117693744	117693744	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117693744T>C	ENST00000338101.4	-	16	2634	c.2630A>G	c.(2629-2631)cAc>cGc	p.H877R	NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)			117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				ACTCTACCTGTGCTGGCTGTC	0.582000													Esophageal Squamous(162;1748 2599 51982 52956)											0							SO:0001583	missense			ENST00000338101.4	1	1	hg19	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013078	0.35511	.	.	ENSG00000089250	ENST00000338101;ENST00000544320	T	0.58210	0.35	5.93	-0.753	0.11068	.	.	.	.	.	T	0.35219	0.0924	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	T	0.06445	-1.0826	7	0.15066	T	0.55	.	9.1619	0.37028	0.0:0.429:0.0:0.571	.	.	.	.	R	877;43	ENSP00000337459:H877R	ENSP00000337459:H877R	H	-	2	0	NOS1	116178127	0.966000	0.33281	0.995000	0.50966	0.993000	0.82548	-0.321000	0.08018	-0.116000	0.11893	-0.290000	0.09829	CAC		TCGA-IB-7651-01A-11D-2154-08	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1	60	319	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	57	315	0	72	2								-4.993325	1	1	116244	11	41	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOS1	4842	broad.mit.edu	37	12	117703293	117703293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117703293T>C	ENST00000338101.4	-	11	1968	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G	NOS1_ENST00000317775.6_Missense_Mutation_p.D655G|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)			117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				GGAGTGATGGTCAACAATGGT	0.597000													Esophageal Squamous(162;1748 2599 51982 52956)											0							SO:0001583	missense			ENST00000338101.4	0	1	hg19	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834508	0.91036	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.57595	0.39;0.39	5.37	5.37	0.77165	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84567	0.0653	10	0.87932	D	0	-44.1366	15.5335	0.75983	0.0:0.0:0.0:1.0	.	655	P29475	NOS1_HUMAN	G	550;655;655;655	ENSP00000320758:D655G;ENSP00000337459:D655G	ENSP00000320758:D655G	D	-	2	0	NOS1	116187676	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.778000	0.85637	2.254000	0.74563	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1	8	41	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.906799e-01	7	41	0	10	2								-16.020560	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.840000	1.000000	1.000000	0.990566	0.990000	1	9.900000e-01	1
NOS1	4842	broad.mit.edu	37	12	117768514	117768514	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117768514G>A	ENST00000338101.4	-	1	365	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	NOS1_ENST00000317775.6_Missense_Mutation_p.R121W|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W|NOS1_ENST00000549189.1_5'Flank			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)			117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TGTGTCACCCGGATGGTCTTG	0.647000													Esophageal Squamous(162;1748 2599 51982 52956)											0							SO:0001583	missense			ENST00000338101.4	1	1	hg19	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932481	0.73442	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.07114	4.86;3.22;4.84	4.8	4.8	0.61643	PDZ/DHR/GLGF (1);	0.055578	0.64402	D	0.000001	T	0.24431	0.0592	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.55161	0.77	T	0.01869	-1.1257	10	0.87932	D	0	-26.7802	18.0621	0.89380	0.0:0.0:1.0:0.0	.	121	P29475	NOS1_HUMAN	W	121	ENSP00000320758:R121W;ENSP00000339862:R121W;ENSP00000337459:R121W	ENSP00000320758:R121W	R	-	1	2	NOS1	116252897	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.255000	0.43222	2.492000	0.84095	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1	60	282	1	67		0	0	0	1	67	2		0	0	0	0	0	2	1	1	60	281	1	67	17								-3.382497	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WSB2	55884	broad.mit.edu	37	12	118474256	118474256	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118474256G>T	ENST00000315436.3	-	6	861	c.720C>A	c.(718-720)agC>agA	p.S240R	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.S257R|WSB2_ENST00000535496.1_Missense_Mutation_p.S242R|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000544233.1_Missense_Mutation_p.S30R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2			17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				AGACAACACTGCTTTGATGGC	0.512000																								0							SO:0001583	missense			ENST00000315436.3	1	1	hg19	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467308	0.63625	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496;ENST00000537945	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;4.9	5.66	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.085373	0.85682	D	0.000000	T	0.47728	0.1461	N	0.21240	0.645	0.48696	D	0.99969	B	0.30211	0.273	B	0.28709	0.093	T	0.41734	-0.9492	10	0.31617	T	0.26	-20.5	14.048	0.64716	0.0728:0.0:0.9272:0.0	.	240	Q9NYS7	WSB2_HUMAN	R	240;15;257;30;242;242	ENSP00000319474:S240R;ENSP00000445941:S15R;ENSP00000409131:S257R;ENSP00000444431:S30R;ENSP00000439450:S242R;ENSP00000440386:S242R	ENSP00000319474:S240R	S	-	3	2	WSB2	116958639	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.032000	0.57274	1.395000	0.46643	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	1	0	1	118	474	0	118	1	1	125	318	0	118	2		0	0	0	0	0	2	1	1	113	462	0	117	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WSB2	55884	broad.mit.edu	37	12	118480730	118480730	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118480730G>T	ENST00000315436.3	-	4	616	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.L176M|WSB2_ENST00000535496.1_Missense_Mutation_p.L161M|WSB2_ENST00000542304.1_De_novo_Start_OutOfFrame|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2			17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				GTGAAGCTCAGATCTCTCACG	0.557000																								0							SO:0001583	missense			ENST00000315436.3	1	0	hg19	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190714	0.78789	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.75	2.72	0.32119	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.144057	0.48286	D	0.000191	T	0.62841	0.2461	L	0.38838	1.175	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.59289	-0.7482	10	0.49607	T	0.09	-8.686	5.8458	0.18665	0.2445:0.137:0.6186:0.0	.	159	Q9NYS7	WSB2_HUMAN	M	159;176;161;161	ENSP00000319474:L159M;ENSP00000409131:L176M;ENSP00000439450:L161M;ENSP00000440386:L161M	ENSP00000319474:L159M	L	-	1	2	WSB2	116965113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.339000	0.43965	0.283000	0.22279	0.644000	0.83932	CTG		TCGA-IB-7651-01A-11D-2154-08	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	1	0	1	99	444	0	105	1	1	165	324	0	105	2		0	0	0	0	0	2	1	1	95	439	0	104	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUDS3	64426	broad.mit.edu	37	12	118829014	118829014	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118829014G>T	ENST00000543473.1	+	6	756	c.444G>T	c.(442-444)gaG>gaT	p.E148D	SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)			2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				AGCTGAAAGAGAACCTGATTG	0.398000																								0							SO:0001583	missense			ENST00000543473.1	1	1	hg19	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	6.662	0.490703	0.12702	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.28608	0.87	0.58432	D	0.999995	D	0.57257	0.979	D	0.74023	0.982	T	0.48570	-0.9024	9	0.11794	T	0.64	-18.0549	6.5366	0.22357	0.2101:0.0:0.7899:0.0	.	148	Q9H7L9	SDS3_HUMAN	D	148;149	.	ENSP00000380695:E149D	E	+	3	2	SUDS3	117313397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.830000	0.48136	2.677000	0.91161	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	0	0	1	87	402	1	91	1	9.993542e-01	24	61	1	91	5		0	0	0	0	0	2	1	1	86	385	1	91	18								-20.000000	1	1	120800	2	29	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRRM4	84530	broad.mit.edu	37	12	119559878	119559878	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119559878C>T	ENST00000267260.4	+	6	856	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4			24					TGTTTAGCTCCTCTAGCCCAA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000267260.4	1	1	hg19	CCDS44994.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	1	36	207	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	36	199	0	57	2								-2.851152	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
SRRM4	84530	broad.mit.edu	37	12	119568492	119568492	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568492C>T	ENST00000267260.4	+	8	1012	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4			24					GGCACCGCGGCCGGTCCCCTG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000267260.4	1	1	hg19	CCDS44994.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	1	27	101	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	1	27	100	0	18	2								-20.000000	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SRRM4	84530	broad.mit.edu	37	12	119568590	119568590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568590C>T	ENST00000267260.4	+	8	1110	c.722C>T	c.(721-723)cCg>cTg	p.P241L	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4			24					TCCAGTCGCCCGCCCAGTCAA	0.647000																								0							SO:0001583	missense			ENST00000267260.4	1	1	hg19	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	4.702	0.130604	0.08981	.	.	ENSG00000139767	ENST00000267260	T	0.21191	2.02	4.68	-1.97	0.07503	.	0.607362	0.17342	N	0.177731	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30179	-0.9987	10	0.11182	T	0.66	-0.0964	0.4273	0.00465	0.2622:0.2692:0.1288:0.3398	.	241	A7MD48	SRRM4_HUMAN	L	241	ENSP00000267260:P241L	ENSP00000267260:P241L	P	+	2	0	SRRM4	118052973	0.000000	0.05858	0.053000	0.19242	0.065000	0.16274	0.005000	0.13129	-0.299000	0.08909	-0.480000	0.04831	CCG		TCGA-IB-7651-01A-11D-2154-08	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	1	29	97	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1	29	94	0	27	2								-4.062525	1	0	120880	1	25	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRRM4	84530	broad.mit.edu	37	12	119568613	119568613	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568613C>A	ENST00000267260.4	+	8	1133	c.745C>A	c.(745-747)Ctt>Att	p.L249I	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4			24					CCTCCAGATGCTTGGCTACCT	0.622000																								0							SO:0001583	missense			ENST00000267260.4	1	1	hg19	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748443	0.49257	.	.	ENSG00000139767	ENST00000267260	T	0.23950	1.88	5.21	4.2	0.49525	.	0.579646	0.17230	N	0.181976	T	0.18299	0.0439	L	0.44542	1.39	0.24740	N	0.993043	B	0.29085	0.232	B	0.25759	0.063	T	0.09773	-1.0659	10	0.19590	T	0.45	-10.4697	7.4408	0.27181	0.0:0.7997:0.0:0.2003	.	249	A7MD48	SRRM4_HUMAN	I	249	ENSP00000267260:L249I	ENSP00000267260:L249I	L	+	1	0	SRRM4	118052996	1.000000	0.71417	0.998000	0.56505	0.367000	0.29736	2.194000	0.42668	2.445000	0.82738	0.448000	0.29417	CTT		TCGA-IB-7651-01A-11D-2154-08	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	1	26	92	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1	24	89	0	27	2								-20.000000	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SRRM4	84530	broad.mit.edu	37	12	119592113	119592113	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592113G>T	ENST00000267260.4	+	12	1845	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4			24					GCGCGTCGGAGACGTCGGTCC	0.682000																								0							SO:0001583	missense			ENST00000267260.4	0	1	hg19	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986015	0.97173	.	.	ENSG00000139767	ENST00000267260	T	0.66995	-0.24	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78163	-0.2311	9	.	.	.	-21.8605	19.2685	0.93998	0.0:0.0:1.0:0.0	.	486	A7MD48	SRRM4_HUMAN	I	486	ENSP00000267260:R486I	.	R	+	2	0	SRRM4	118076496	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	7.268000	0.78473	2.562000	0.86427	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	0	0	0	6	118	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.644131e-01	6	116	0	21	2								-10.206780	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.590000	0.250000	1.000000	1.000000	0.615832	0.590000	0	3.900000e-01	8.400000e-01
SRRM4	84530	broad.mit.edu	37	12	119592129	119592129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592129G>A	ENST00000267260.4	+	12	1861	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4			24					GGTCCTACTCGCCTATGAGAA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000267260.4	1	1	hg19	CCDS44994.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	1	0	1	22	101	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999993e-01	22	99	0	23	2								-20.000000	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999918	0.990000	1	9.900000e-01	1
HSPB8	26353	broad.mit.edu	37	12	119631653	119631653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119631653C>T	ENST00000281938.2	+	3	1252	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8			14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				CAGGAAGTCACCTGTACCTGA	0.507000																								0							SO:0001583	missense			ENST00000281938.2	1	1	hg19	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099369	0.56183	.	.	ENSG00000152137	ENST00000281938	D	0.87571	-2.27	4.29	4.29	0.51040	.	0.430101	0.24933	N	0.034450	T	0.80929	0.4718	N	0.24115	0.695	0.35132	D	0.768082	D	0.60160	0.987	P	0.47118	0.538	D	0.83617	0.0137	9	.	.	.	.	11.9741	0.53081	0.0:0.8241:0.1759:0.0	.	194	Q9UJY1	HSPB8_HUMAN	I	194	ENSP00000281938:T194I	.	T	+	2	0	HSPB8	118116036	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.887000	0.48586	2.396000	0.81511	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	1	0	1	67	279	0	83	0	9.999997e-01	0	94	0	83	2		0	0	0	0	0	2	1	1	67	276	0	82	2								-20.000000	1	1	121412	1	34	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC60	160777	broad.mit.edu	37	12	119909945	119909945	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119909945T>A	ENST00000327554.2	+	3	782	c.317T>A	c.(316-318)aTc>aAc	p.I106N	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60			40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				ATCTCAGAAATCCACTATGGG	0.448000																								0							SO:0001583	missense			ENST00000327554.2	1	1	hg19	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097657	0.56075	.	.	ENSG00000183273	ENST00000327554	T	0.26223	1.75	5.22	2.75	0.32379	.	0.606715	0.15846	N	0.241777	T	0.28863	0.0716	M	0.63428	1.95	0.09310	N	1	P	0.49559	0.925	P	0.48840	0.592	T	0.14504	-1.0470	9	.	.	.	-13.3902	3.3754	0.07235	0.2556:0.111:0.0:0.6334	.	106	Q8IWA6	CCD60_HUMAN	N	106	ENSP00000333374:I106N	.	I	+	2	0	CCDC60	118394328	0.001000	0.12720	0.063000	0.19743	0.130000	0.20726	0.454000	0.21827	0.837000	0.34925	0.334000	0.21626	ATC		TCGA-IB-7651-01A-11D-2154-08	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	1	0	1	224	934	0	246		0	0	0	0	246	2		0	0	0	0	0	2	1	1	213	907	0	240	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	p.R131H(3)		40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				GTCACACGTCGCCCATTCACT	0.473000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000327554.2	1	1	hg19	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873165	0.33069	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.37411	1.2	4.44	2.62	0.31277	.	0.000000	0.51477	D	0.000083	T	0.27731	0.0682	L	0.52126	1.63	0.09310	N	0.999997	B	0.25667	0.131	B	0.22880	0.042	T	0.14896	-1.0456	9	.	.	.	-7.2754	7.1847	0.25793	0.2043:0.0:0.7957:0.0	.	131	Q8IWA6	CCD60_HUMAN	H	131	ENSP00000333374:R131H	.	R	+	2	0	CCDC60	118401332	0.009000	0.17119	0.026000	0.17262	0.001000	0.01503	0.441000	0.21611	0.612000	0.30071	-0.143000	0.13931	CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	1	0	1	53	242	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	52	233	0	53	2								-3.418453	1	1	121412	5	38	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC60	160777	broad.mit.edu	37	12	119957964	119957964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119957964C>T	ENST00000327554.2	+	9	1472	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60			40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				AGTAATTCTGCTTATAAGGAA	0.473000																								0							SO:0001583	missense			ENST00000327554.2	1	1	hg19	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171345	0.06421	.	.	ENSG00000183273	ENST00000327554	T	0.22743	1.94	3.75	-0.352	0.12598	.	1.142040	0.06595	N	0.752738	T	0.15739	0.0379	L	0.44542	1.39	0.09310	N	1	B	0.25904	0.137	B	0.24269	0.052	T	0.33420	-0.9869	9	.	.	.	-0.9919	3.5628	0.07889	0.0:0.4639:0.1939:0.3421	.	336	Q8IWA6	CCD60_HUMAN	V	336	ENSP00000333374:A336V	.	A	+	2	0	CCDC60	118442347	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.191000	0.09601	-0.063000	0.13065	-0.150000	0.13652	GCT		TCGA-IB-7651-01A-11D-2154-08	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	1	0	0	79	831	0	194		0	0	0	0	194	2		0	0	0	0	0	2	1	1	75	816	0	193	2								-18.888810	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.810000	1.000000	1.000000	0.966840	0.990000	1	9.000000e-01	1
CCDC60	160777	broad.mit.edu	37	12	119961570	119961570	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119961570C>T	ENST00000327554.2	+	11	1641	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60			40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				AGTTTTACAGCGTAGCCCAGG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000327554.2	1	1	hg19	CCDS9190.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	1	0	1	51	186	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	51	185	0	54	2								-20.000000	1	1	121412	2	33	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKAB1	5564	broad.mit.edu	37	12	120114475	120114475	+	Splice_Site	SNP	C	C	T	rs146667625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120114475C>T	ENST00000229328.5	+	5	1158	c.666C>T	c.(664-666)tcC>tcT	p.S222S	PRKAB1_ENST00000541640.1_Splice_Site_p.S222S|PRKAB1_ENST00000540121.1_Splice_Site_p.S56S	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit			10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	CGGGGATTTCCGTAAGTATGT	0.572000																								0							SO:0001630	splice_region_variant			ENST00000229328.5	1	0	hg19	CCDS9191.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	1	0	1	44	171	0	74	1	1	48	224	0	74	2		0	0	0	0	0	2	1	1	43	168	0	73	2								-3.073824	1	1	121412	30	45	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIT	11113	broad.mit.edu	37	12	120135797	120135797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120135797C>T	ENST00000261833.7	-	44	5612	c.5560G>A	c.(5560-5562)Gca>Aca	p.A1854T	CIT_ENST00000537607.1_5'UTR|RP1-127H14.3_ENST00000535109.1_5'Flank|CIT_ENST00000392521.2_Missense_Mutation_p.A1896T	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase			86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)			GAGGAGCGTGCCTGGATCTCA	0.532000																								0							SO:0001583	missense			ENST00000261833.7	1	1	hg19	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636663	0.67130	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.03689	3.84;3.84	5.34	5.34	0.76211	Citron-like (3);	0.133331	0.49305	D	0.000142	T	0.05227	0.0139	L	0.29908	0.895	0.50813	D	0.999892	P;B;B	0.35793	0.521;0.149;0.013	B;B;B	0.38378	0.272;0.098;0.031	T	0.55276	-0.8166	10	0.29301	T	0.29	.	19.4207	0.94720	0.0:1.0:0.0:0.0	.	1896;1854;1372	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1896;1854	ENSP00000376306:A1896T;ENSP00000261833:A1854T	ENSP00000261833:A1854T	A	-	1	0	CIT	118620180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.649000	0.54417	2.653000	0.90120	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	1	0	0	84	956	0	206	1	2.246916e-01	3	8	0	206	2		0	0	0	0	0	2	1	1	83	941	0	202	2								-18.118270	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.940000	0.760000	1.000000	1.000000	0.930768	0.940000	1	8.400000e-01	1
CIT	11113	broad.mit.edu	37	12	120139738	120139738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120139738C>T	ENST00000261833.7	-	41	5256	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.S1777N	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase			86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)			GTGGATACAGCTGCAGGGCTC	0.498000																								0							SO:0001583	missense			ENST00000261833.7	1	1	hg19	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632957|4.632957	0.87660|0.87660	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05258	.|3.47;3.47	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Citron-like (3);	.|0.047784	.|0.85682	.|D	.|0.000000	T|T	0.20861|0.20861	0.0502|0.0502	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.999;0.991;0.708	.|D;D;B	.|0.83275	.|0.996;0.988;0.425	T|T	0.00250|0.00250	-1.1878|-1.1878	5|10	.|0.34782	.|T	.|0.22	.|.	19.7849|19.7849	0.96432|0.96432	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1777;1735;1253	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|N	1348|1777;1735	.|ENSP00000376306:S1777N;ENSP00000261833:S1735N	.|ENSP00000261833:S1735N	A|S	-|-	1|2	0|0	CIT|CIT	118624121|118624121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.671000|2.671000	0.90904|0.90904	0.650000|0.650000	0.86243|0.86243	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	1	0	1	123	430	0	98	1	9.624678e-01	5	16	0	98	2		0	0	0	0	0	2	1	1	121	419	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIT	11113	broad.mit.edu	37	12	120168356	120168356	+	Missense_Mutation	SNP	C	C	T	rs146605071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120168356C>T	ENST00000261833.7	-	26	3356	c.3304G>A	c.(3304-3306)Gct>Act	p.A1102T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.A1144T	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase			86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)			TGCTGCAGAGCGAGAATCTCA	0.562000																								0							SO:0001583	missense			ENST00000261833.7	1	1	hg19	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437072	0.62955	4.54E-4	1.16E-4	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	T;T;T	0.65549	-0.1;-0.16;1.56	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	N	0.24115	0.695	0.58432	D	0.999999	D;D;P	0.63046	0.992;0.983;0.494	B;B;B	0.42882	0.401;0.204;0.056	T	0.49835	-0.8897	10	0.25106	T	0.35	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1144;1102;635	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1144;1102;144	ENSP00000376306:A1144T;ENSP00000261833:A1102T;ENSP00000446105:A144T	ENSP00000261833:A1102T	A	-	1	0	CIT	118652739	1.000000	0.71417	0.675000	0.29917	0.574000	0.36063	6.026000	0.70873	2.550000	0.86006	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	1	0	1	42	151	0	38	1	6.732679e-01	3	7	0	38	2		0	0	0	0	0	2	1	1	42	151	0	38	2								-3.744527	1	1	121412	5	38	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIT	11113	broad.mit.edu	37	12	120195263	120195263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120195263C>T	ENST00000261833.7	-	21	2544	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R873Q	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase			86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)			CTCCAGTTTTCGGTTCTGGGC	0.542000																								0							SO:0001583	missense			ENST00000261833.7	1	1	hg19	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.266140|2.266140	0.40095|0.40095	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.65549	.|-0.09;-0.16	5.54|5.54	4.65|4.65	0.58169|0.58169	.|.	.|0.334286	.|0.29444	.|N	.|0.012140	T|T	0.33527|0.33527	0.0866|0.0866	N|N	0.03608|0.03608	-0.345|-0.345	0.34945|0.34945	D|D	0.750651|0.750651	.|B;B;B	.|0.09022	.|0.002;0.001;0.001	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.34477|0.34477	-0.9827|-0.9827	5|10	.|0.13853	.|T	.|0.58	.|.	8.5349|8.5349	0.33357|0.33357	0.0:0.7713:0.0:0.2287|0.0:0.7713:0.0:0.2287	.|.	.|873;831;364	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|Q	459|873;831	.|ENSP00000376306:R873Q;ENSP00000261833:R831Q	.|ENSP00000261833:R831Q	E|R	-|-	1|2	0|0	CIT|CIT	118679646|118679646	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	3.232000|3.232000	0.51302|0.51302	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAA|CGA		TCGA-IB-7651-01A-11D-2154-08	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	0	0	1	264	1015	1	211	0	1.916711e-01	0	4	1	211	2		0	0	0	0	0	2	1	1	258	991	0	210	2								-20.000000	1	1	121412	1	29	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ETV6	2120	broad.mit.edu	37	12	12022779	12022779	+	Silent	SNP	C	C	T	rs140005721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12022779C>T	ENST00000396373.4	+	5	1159	c.885C>T	c.(883-885)gaC>gaT	p.D295D		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)			TCTCCGAGGACGGGCTGCATA	0.592000			T	NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5	congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL										Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		L, E, M	0							SO:0001819	synonymous_variant			ENST00000396373.4	1	1	hg19	CCDS8643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	1	0	0	80	524	0	107	1	9.999354e-01	22	70	0	107	2		0	0	0	0	0	2	1	1	81	515	0	105	2								-8.108521	1	1	121410	81	52	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CCDC64	92558	broad.mit.edu	37	12	120436420	120436420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120436420G>A	ENST00000397558.2	+	2	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64			22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				GTGATGTGAAGCAGCTACAGG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000397558.2	1	1	hg19	CCDS41845.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	1	0	1	63	261	0	70	1	9.999999e-01	51	51	0	70	2		0	0	0	0	0	2	1	1	61	253	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC64	92558	broad.mit.edu	37	12	120502561	120502561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120502561C>T	ENST00000397558.2	+	4	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64			22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				AGATCGGAAACGGGAGCTGGA	0.567000																								0							SO:0001583	missense			ENST00000397558.2	1	1	hg19	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584929	0.86748	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727	T;T	0.78924	-1.22;1.4	5.52	5.52	0.82312	.	0.295893	0.32258	N	0.006347	T	0.80747	0.4682	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.52514	0.653;0.701	T	0.82396	-0.0478	10	0.66056	D	0.02	-16.1118	19.4454	0.94844	0.0:1.0:0.0:0.0	.	7;263	B4DNE7;Q6ZP65	.;BICR1_HUMAN	W	244;263;7	ENSP00000380690:R263W;ENSP00000399658:R7W	ENSP00000349605:R244W	R	+	1	2	CCDC64	118986944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.209000	0.42806	2.586000	0.87340	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	1	0	1	120	518	0	131	1	9.991270e-01	14	33	0	131	2		0	0	0	0	0	2	1	1	118	514	0	129	2								-20.000000	1	1	120910	5	40	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCN1L1	10985	broad.mit.edu	37	12	120568522	120568522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120568522G>A	ENST00000300648.6	-	56	7611	c.7599C>T	c.(7597-7599)ggC>ggT	p.G2533G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)			94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TCATGAGAAAGCCCATGCCCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000300648.6	1	1	hg19	CCDS41847.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1	1	0	1	35	209	0	71	1	1	13	164	0	71	2		0	0	0	0	0	2	1	1	34	208	0	70	2								-20.000000	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999916	0.990000	1	9.900000e-01	1
GCN1L1	10985	broad.mit.edu	37	12	120599349	120599349	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120599349C>T	ENST00000300648.6	-	22	2393	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)			94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TTTGTTCTCTCGCTTCATGTT	0.527000																								0							SO:0001583	missense			ENST00000300648.6	1	1	hg19	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843875	0.97016	.	.	ENSG00000089154	ENST00000300648	T	0.51071	0.72	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.68762	-0.5323	10	0.41790	T	0.15	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	794	Q92616	GCN1L_HUMAN	Q	794	ENSP00000300648:R794Q	ENSP00000300648:R794Q	R	-	2	0	GCN1L1	119083732	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.232000	0.78116	2.767000	0.95098	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1	0	0	1	111	520	0	131	1	9.999987e-01	3	88	0	131	2		0	0	0	0	0	2	1	1	109	512	0	128	2								-2.747091	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCN1L1	10985	broad.mit.edu	37	12	120602181	120602181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120602181C>A	ENST00000300648.6	-	18	1819	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)			94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TCCAAGAGTCCGTGCGCCAGC	0.607000																								0							SO:0001587	stop_gained			ENST00000300648.6	0	1	hg19	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	38	7.103971	0.98066	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	603	.	ENSP00000300648:G603X	G	-	1	0	GCN1L1	119086564	1.000000	0.71417	0.733000	0.30861	0.934000	0.57294	7.232000	0.78116	2.769000	0.95229	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1	0	0	1	115	607	0	174	1	9.989474e-01	5	50	0	174	2		0	0	0	0	0	2	1	1	114	591	0	172	2								-2.808125	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXN	5829	broad.mit.edu	37	12	120650126	120650126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120650126G>A	ENST00000228307.7	-	12	1908	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000536957.1_Silent_p.L587L|PXN_ENST00000424649.2_Silent_p.L555L|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000397506.3_Silent_p.L401L|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000458477.2_Silent_p.L422L|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000267257.7_Silent_p.L603L|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin			19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				CCTAGCAGAAGAGCTTGAGGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000228307.7	1	1	hg19	CCDS44997.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	1	0	1	35	119	0	31	1	1	125	254	0	31	2		0	0	0	0	0	2	1	1	35	117	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXN	5829	broad.mit.edu	37	12	120660699	120660699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120660699C>T	ENST00000228307.7	-	4	601	c.460G>A	c.(460-462)Gct>Act	p.A154T	PXN_ENST00000536957.1_Missense_Mutation_p.A152T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000458477.2_Missense_Mutation_p.A21T|PXN_ENST00000267257.7_Missense_Mutation_p.A154T|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin			19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TGCTGTACAGCGTTCAGTTCC	0.612000																								0							SO:0001583	missense			ENST00000228307.7	1	1	hg19	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790286	0.70337	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331;ENST00000546532;ENST00000548912;ENST00000552550	T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.73799	-0.3869	10	0.17369	T	0.5	-8.7967	18.7469	0.91797	0.0:1.0:0.0:0.0	.	154;154;154	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	T	21;154;154;152;154;155;21;21;21	ENSP00000395536:A21T;ENSP00000228307:A154T;ENSP00000391283:A154T;ENSP00000443887:A152T;ENSP00000267257:A154T;ENSP00000443745:A155T;ENSP00000447180:A21T;ENSP00000446607:A21T;ENSP00000446650:A21T	ENSP00000228307:A154T	A	-	1	0	PXN	119145082	1.000000	0.71417	0.524000	0.27887	0.323000	0.28346	4.467000	0.60155	2.442000	0.82660	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	1	0	1	37	150	0	27	1	1	102	268	0	27	2		0	0	0	0	0	2	1	1	37	146	0	27	2								-19.999630	1	1	120966	6	39	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSI1	4440	broad.mit.edu	37	12	120783401	120783401	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120783401T>G	ENST00000257552.2	-	14	1170	c.1082A>C	c.(1081-1083)tAc>tCc	p.Y361S		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1			19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				GCTTCAGTGGTACCCATTGGT	0.572000																								0							SO:0001583	missense			ENST00000257552.2	1	1	hg19	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868890	0.72065	.	.	ENSG00000135097	ENST00000257552	T	0.39229	1.09	4.72	2.24	0.28232	.	0.000000	0.56097	D	0.000027	T	0.58409	0.2120	M	0.68952	2.095	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.57676	-0.7770	10	0.87932	D	0	.	9.8364	0.40971	0.2735:0.0:0.0:0.7265	.	361	O43347	MSI1H_HUMAN	S	361	ENSP00000257552:Y361S	ENSP00000257552:Y361S	Y	-	2	0	MSI1	119267784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	0.276000	0.22118	0.454000	0.30748	TAC		TCGA-IB-7651-01A-11D-2154-08	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	0	0	1	90	508	0	128	0	0	0	1	0	128	2		0	0	0	0	0	2	1	1	90	498	0	127	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF10	9921	broad.mit.edu	37	12	120984244	120984244	+	Missense_Mutation	SNP	G	G	A	rs111483466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120984244G>A	ENST00000325954.4	+	2	655	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10			27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				CGTTATAATCGCAAACGTGAA	0.418000																								0							SO:0001583	missense			ENST00000325954.4	1	1	hg19	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322463	0.95708	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000537997	D;D	0.91295	-2.8;-2.82	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95555	0.8624	10	0.62326	D	0.03	.	18.7237	0.91705	0.0:0.0:1.0:0.0	.	65	Q8N5U6	RNF10_HUMAN	H	65;65;65;15	ENSP00000322242:R65H;ENSP00000415682:R65H	ENSP00000322242:R65H	R	+	2	0	RNF10	119468627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.049000	0.93837	2.479000	0.83701	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4	0	0	1	99	389	0	94	1	1	47	180	0	94	2		0	0	0	0	0	2	1	1	96	381	0	94	2								-3.696009	1	1	121412	3	38	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACADS	35	broad.mit.edu	37	12	121175748	121175748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121175748C>T	ENST00000242592.4	+	5	732	c.581C>T	c.(580-582)gCt>gTt	p.A194V	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain			14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)		Flavin adenine dinucleotide(DB03147)	GAGGCTTCGGCTGCCGTGGTC	0.617000																								0							SO:0001583	missense			ENST00000242592.4	1	1	hg19	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429904	0.62844	.	.	ENSG00000122971	ENST00000242592	D	0.94828	-3.53	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	N	0.02266	-0.62	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.008	T	0.80852	-0.1197	10	0.05959	T	0.93	.	18.1749	0.89758	0.0:1.0:0.0:0.0	.	194;194	E5KSD5;P16219	.;ACADS_HUMAN	V	194	ENSP00000242592:A194V	ENSP00000242592:A194V	A	+	2	0	ACADS	119660131	1.000000	0.71417	0.282000	0.24776	0.900000	0.52787	7.459000	0.80802	2.288000	0.76882	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	1	0	1	75	348	0	90	1	1	55	128	0	90	2		0	0	0	0	0	2	1	1	75	342	0	89	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPPL3	121665	broad.mit.edu	37	12	121202852	121202852	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121202852A>C	ENST00000353487.2	-	11	1608	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				AAAGGCTCAGACCACATCCGC	0.468000																								0							SO:0001583	missense			ENST00000353487.2	1	1	hg19	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613923	0.46631	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.18016	2.24	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.43757	1.38	0.80722	D	1	P;P	0.39424	0.673;0.625	B;B	0.40256	0.324;0.252	T	0.01977	-1.1236	10	0.33940	T	0.23	-32.8141	15.477	0.75489	1.0:0.0:0.0:0.0	.	370;369	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	A	369;368	ENSP00000288680:S369A	ENSP00000288680:S369A	S	-	1	0	AC069214.1	119687235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.108000	0.64289	0.533000	0.62120	TCT		TCGA-IB-7651-01A-11D-2154-08	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	0	0	1	35	148	1	49	1	9.999586e-01	49	184	1	49	16		0	0	0	0	0	2	1	9.998158e-01	35	146	1	49	13								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HNF1A	6927	broad.mit.edu	37	12	121437184	121437184	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121437184A>G	ENST00000257555.6	+	8	1841	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A	HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A			P20823	HNF1A_HUMAN	HNF1 homeobox A			221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				CCTCACGCCCACCAAGCAGGT	0.682000									Hepatic Adenoma, Familial Clustering of															0							SO:0001583	missense	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	ENST00000257555.6	1	1	hg19	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079208	0.55753	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.97089	-4.24;-4.24;-4.24	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.099892	0.43110	D	0.000606	D	0.94328	0.8177	L	0.36672	1.1	0.80722	D	1	B;B	0.26002	0.114;0.139	B;B	0.24541	0.042;0.054	D	0.92434	0.5956	10	0.48119	T	0.1	-34.5381	14.8565	0.70341	1.0:0.0:0.0:0.0	.	539;539	F5H0K0;P20823	.;HNF1A_HUMAN	A	539;431;539;360;539;539	ENSP00000257555:T539A;ENSP00000443112:T539A;ENSP00000438804:T539A	ENSP00000257555:T539A	T	+	1	0	HNF1A	119921567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.625000	0.61262	2.104000	0.64026	0.528000	0.53228	ACC		TCGA-IB-7651-01A-11D-2154-08	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	1	0	1	116	653	0	135	1	8.642383e-01	11	11	0	135	2		0	0	0	0	0	2	1	1	113	635	0	134	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C12orf43	64897	broad.mit.edu	37	12	121442209	121442209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121442209C>T	ENST00000288757.3	-	6	558	c.536G>A	c.(535-537)aGc>aAc	p.S179N	C12orf43_ENST00000445832.3_Missense_Mutation_p.S149N|C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N|C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N|C12orf43_ENST00000536407.2_Intron	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43			14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TGTTCCAGGGCTGTGGATGGC	0.602000																								0							SO:0001583	missense			ENST00000288757.3	1	1	hg19	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.138276|2.138276	0.37728|0.37728	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000546272|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.48836	.|0.82;0.81;0.82;0.8;0.81	5.0|5.0	3.15|3.15	0.36227|0.36227	.|.	.|1.472730	.|0.03567	.|N	.|0.228022	T|T	0.36220|0.36220	0.0959|0.0959	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32467	.|0.006;0.006;0.372;0.006;0.152	.|B;B;B;B;B	.|0.32677	.|0.012;0.005;0.15;0.005;0.08	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.17369	.|T	.|0.5	-0.4383|-0.4383	9.3139|9.3139	0.37921|0.37921	0.1449:0.7773:0.0:0.0778|0.1449:0.7773:0.0:0.0778	.|.	.|169;138;180;169;179	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	T|N	133|149;179;180;138;169;117;134	.|ENSP00000409788:S149N;ENSP00000288757:S179N;ENSP00000442224:S180N;ENSP00000437803:S169N;ENSP00000442041:S117N	.|ENSP00000288757:S179N	A|S	-|-	1|2	0|0	C12orf43|C12orf43	119926592|119926592	0.068000|0.068000	0.21057|0.21057	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	0.963000|0.963000	0.29293|0.29293	0.771000|0.771000	0.33359|0.33359	-0.140000|-0.140000	0.14226|0.14226	GCC|AGC		TCGA-IB-7651-01A-11D-2154-08	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	77	851	0	151	1	9.766102e-01	16	51	0	151	2		0	0	0	0	0	2	1	1	74	835	0	151	2								-17.737730	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.960000	0.770000	1.000000	1.000000	0.945098	0.960000	1	8.600000e-01	1
OASL	8638	broad.mit.edu	37	12	121458478	121458478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121458478T>G	ENST00000257570.5	-	6	1701	c.1431A>C	c.(1429-1431)gaA>gaC	p.E477D	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like			14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				GGCCTTGGAATTCCAGCTGCT	0.537000													Colon(192;517 2041 31392 31913 39966)											0							SO:0001583	missense			ENST00000257570.5	1	1	hg19	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254112	0.39896	.	.	ENSG00000135114	ENST00000257570	T	0.73152	-0.72	5.65	1.84	0.25277	Ubiquitin supergroup (1);Ubiquitin (2);	0.962372	0.08539	N	0.930852	T	0.60676	0.2287	L	0.41236	1.265	0.09310	N	1	P	0.38677	0.642	B	0.37550	0.253	T	0.49523	-0.8931	10	0.52906	T	0.07	-0.1712	7.0538	0.25087	0.0:0.6396:0.0:0.3604	.	477	Q15646	OASL_HUMAN	D	477	ENSP00000257570:E477D	ENSP00000257570:E477D	E	-	3	2	OASL	119942861	0.208000	0.23494	0.001000	0.08648	0.070000	0.16714	0.949000	0.29109	0.173000	0.19788	-0.242000	0.12053	GAA		TCGA-IB-7651-01A-11D-2154-08	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	0	0	0	12	271	0	66	1	9.861540e-01	7	158	0	66	2		0	0	0	0	0	2	1	9.990951e-01	11	268	0	65	2								-14.113900	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.500000	0.270000	0.810000	0.480000	0.524763	0.500000	0	3.700000e-01	6.600000e-01
ANAPC5	51433	broad.mit.edu	37	12	121746318	121746318	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121746318G>A	ENST00000261819.3	-	17	2354	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S|ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5			31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				CCATGAGAGGGCAGCTCCTGA	0.552000																								0							SO:0001583	missense			ENST00000261819.3	0	1	hg19	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758232	0.69763	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.61	5.61	0.85477	.	0.053087	0.85682	D	0.000000	T	0.54951	0.1890	L	0.59436	1.845	0.80722	D	1	P;B;B	0.38597	0.639;0.123;0.264	B;B;B	0.35655	0.207;0.042;0.061	T	0.53041	-0.8494	9	0.24483	T	0.36	.	18.6393	0.91389	0.0:0.0:1.0:0.0	.	411;633;745	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	S	633;732;745;411;347;633	.	ENSP00000261819:P745S	P	-	1	0	ANAPC5	120230701	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.733000	0.91539	2.646000	0.89796	0.563000	0.77884	CCC		TCGA-IB-7651-01A-11D-2154-08	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	0	0	0	9	374	0	103	1	8.981878e-01	9	161	0	103	2		0	0	0	0	0	2	1	9.938511e-01	9	367	0	102	2								-3.287229	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.280000	0.130000	0.490000	0.270000	0.300309	0.280000	0	2.000000e-01	3.900000e-01
ANAPC5	51433	broad.mit.edu	37	12	121757499	121757499	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121757499C>A	ENST00000261819.3	-	13	1759		c.e13+1		ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5			31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				AGGTTTCTTACCTATAAACAC	0.303000																								0							SO:0001630	splice_region_variant			ENST00000261819.3	1	1	hg19	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680924	0.68042	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1779	0.89767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANAPC5	120241882	1.000000	0.71417	0.967000	0.41034	0.772000	0.43724	5.608000	0.67654	2.598000	0.87819	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	1	0	1	30	94	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	1	29	93	0	43	2								-19.998300	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANAPC5	51433	broad.mit.edu	37	12	121758243	121758243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121758243G>T	ENST00000261819.3	-	12	1581	c.1460C>A	c.(1459-1461)tCt>tAt	p.S487Y	ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y|ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5			31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TAACACTTCAGAAGCTGCAGC	0.418000																								0							SO:0001583	missense			ENST00000261819.3	1	1	hg19	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339557	0.41398	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.59	4.68	0.58851	Tetratricopeptide-like helical (1);	0.224732	0.47455	D	0.000226	T	0.52191	0.1719	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.16603	0.007;0.002;0.002;0.018	B;B;B;B	0.15870	0.008;0.003;0.009;0.014	T	0.46400	-0.9194	10	0.35671	T	0.21	.	15.5473	0.76112	0.0:0.1432:0.8568:0.0	.	153;89;375;487	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	Y	375;474;487;153;89;375	ENSP00000415061:S375Y;ENSP00000439875:S474Y;ENSP00000261819:S487Y;ENSP00000343787:S375Y	ENSP00000261819:S487Y	S	-	2	0	ANAPC5	120242626	1.000000	0.71417	0.703000	0.30354	0.903000	0.53119	5.670000	0.68088	1.450000	0.47717	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	1	0	1	49	225	0	54	1	1	4	192	0	54	2		0	0	0	0	0	2	1	1	49	224	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANAPC5	51433	broad.mit.edu	37	12	121783678	121783678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121783678C>A	ENST00000261819.3	-	4	675	c.554G>T	c.(553-555)aGa>aTa	p.R185I	ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5			31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TTCCATTTTTCTTTCACCCTC	0.383000																								0							SO:0001583	missense			ENST00000261819.3	1	1	hg19	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652843	0.29336	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.42	4.52	0.55395	.	0.300312	0.41605	D	0.000858	T	0.13030	0.0316	N	0.14661	0.345	0.47737	D	0.999503	B;B	0.14805	0.002;0.011	B;B	0.15052	0.008;0.012	T	0.07520	-1.0768	10	0.18276	T	0.48	.	14.5878	0.68339	0.0:0.9286:0.0:0.0714	.	86;185	E9PFB2;Q9UJX4	.;APC5_HUMAN	I	86;185;185;86;64;86	ENSP00000415061:R86I;ENSP00000439875:R185I;ENSP00000261819:R185I;ENSP00000343787:R86I;ENSP00000445310:R64I;ENSP00000440800:R86I	ENSP00000261819:R185I	R	-	2	0	ANAPC5	120268061	0.984000	0.35163	0.799000	0.32177	0.990000	0.78478	3.369000	0.52365	1.251000	0.43983	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1	0	0	1	195	899	1	218	1	1	48	172	1	218	6		0	0	0	0	0	2	1	1	188	881	1	218	17								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM2B	84678	broad.mit.edu	37	12	121878882	121878882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121878882G>A	ENST00000377071.4	-	20	3511	c.3439C>T	c.(3439-3441)Cgg>Tgg	p.R1147W	KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R1078W|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B			19					CCAGGCAGCCGGTTGATGAGC	0.622000																								0							SO:0001583	missense			ENST00000377071.4	1	1	hg19	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626902	0.66901	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.38401	1.14;1.14;1.14	6.05	2.99	0.34606	.	0.000000	0.47852	D	0.000205	T	0.62684	0.2448	M	0.90082	3.085	0.80722	D	1	P;B;D;P	0.89917	0.942;0.071;1.0;0.861	P;B;D;B	0.87578	0.522;0.011;0.998;0.227	T	0.66870	-0.5814	10	0.87932	D	0	-27.807	9.1238	0.36803	0.15:0.0:0.6901:0.16	.	587;1147;1078;590	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	1135;515;1078;1147;590;1150	ENSP00000437821:R515W;ENSP00000366269:R1078W;ENSP00000366271:R1147W	ENSP00000261824:R1150W	R	-	1	2	KDM2B	120363265	1.000000	0.71417	0.480000	0.27341	0.828000	0.46876	2.543000	0.45752	0.905000	0.36596	0.643000	0.83706	CGG		TCGA-IB-7651-01A-11D-2154-08	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1	29	187	0	34	1	9.936414e-01	7	47	0	34	2		0	0	0	0	0	2	1	1	28	184	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999426	0.990000	1	9.900000e-01	1
KDM2B	84678	broad.mit.edu	37	12	121880000	121880000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880000G>T	ENST00000377071.4	-	19	3316	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M	KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000377069.4_Missense_Mutation_p.L1013M|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B			19					CACACACACAGGTCTTGGTGG	0.662000																								0							SO:0001583	missense			ENST00000377071.4	1	1	hg19	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869251	0.72065	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.22743	1.94;1.94;1.94	5.85	2.95	0.34219	F-box domain, cyclin-like (2);	0.147705	0.30575	N	0.009333	T	0.53498	0.1800	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.996	D;D;D;D	0.91635	0.981;0.999;0.999;0.975	T	0.58002	-0.7713	10	0.87932	D	0	-20.2148	9.0297	0.36252	0.3872:0.0:0.6128:0.0	.	522;1082;1013;525	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	M	1070;450;1013;1082;525;1085	ENSP00000437821:L450M;ENSP00000366269:L1013M;ENSP00000366271:L1082M	ENSP00000261824:L1085M	L	-	1	2	KDM2B	120364383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.798000	0.47884	0.334000	0.23590	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1	50	201	0	48	1	9.972234e-01	7	32	0	48	2		0	0	0	0	0	2	1	1	50	196	0	48	2								-20.000000	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM2B	84678	broad.mit.edu	37	12	121880187	121880187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880187C>T	ENST00000377071.4	-	19	3129	c.3057G>A	c.(3055-3057)ccG>ccA	p.P1019P	KDM2B_ENST00000542973.1_Silent_p.P387P|KDM2B_ENST00000377069.4_Silent_p.P950P|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B			19					TGACACGGGGCGGGCTGCGCA	0.741000																								0							SO:0001819	synonymous_variant			ENST00000377071.4	0	1	hg19	CCDS41850.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	0	14	82	0	11	0	2.297631e-01	1	5	0	11	2		0	0	0	0	0	2	1	9.997119e-01	11	78	0	9	2								-19.999890	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.950000	1.000000	1.000000	0.996504	0.990000	1	9.900000e-01	1
KDM2B	84678	broad.mit.edu	37	12	121880308	121880308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880308C>T	ENST00000377071.4	-	19	3008	c.2936G>A	c.(2935-2937)aGc>aAc	p.S979N	KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N|KDM2B_ENST00000377069.4_Missense_Mutation_p.S910N|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B			19					CTCGCCCTCGCTCTCAGGCTC	0.677000																								0							SO:0001583	missense			ENST00000377071.4	0	1	hg19	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458903	0.43634	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.24538	2.15;2.43;1.85	5.62	4.73	0.59995	.	1.126930	0.06412	N	0.720756	T	0.32823	0.0842	L	0.59436	1.845	0.80722	D	1	B;B;B;B	0.10296	0.0;0.003;0.001;0.001	B;B;B;B	0.10450	0.002;0.005;0.002;0.002	T	0.03555	-1.1025	10	0.44086	T	0.13	-15.1863	14.2533	0.66035	0.0:0.9285:0.0:0.0715	.	419;979;910;422	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	N	967;347;910;979;422;982	ENSP00000437821:S347N;ENSP00000366269:S910N;ENSP00000366271:S979N	ENSP00000261824:S982N	S	-	2	0	KDM2B	120364691	0.998000	0.40836	0.882000	0.34594	0.079000	0.17450	3.786000	0.55431	1.371000	0.46172	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	0	0	0	8	220	0	29	0	2.288511e-01	1	22	0	29	2		0	0	0	0	0	2	1	9.895505e-01	8	219	0	29	2								-10.320000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.420000	0.200000	0.750000	0.410000	0.448279	0.420000	0	2.900000e-01	5.900000e-01
KDM2B	84678	broad.mit.edu	37	12	121881856	121881856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121881856G>A	ENST00000377071.4	-	16	2482	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R773W|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B			19					TCGTATTTCCGCTTCTTCCTC	0.657000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000377071.4	1	1	hg19	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031468	0.75504	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.26518	2.01;2.25;1.73	5.92	5.02	0.67125	.	0.275088	0.24502	N	0.037974	T	0.45357	0.1338	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;P;D	0.65987	0.876;0.94;0.874;0.912	T	0.42344	-0.9457	10	0.66056	D	0.02	-10.6048	15.1846	0.72989	0.0:0.0:0.6697:0.3303	.	244;804;773;247	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	804;172;773;804;247;807	ENSP00000437821:R172W;ENSP00000366269:R773W;ENSP00000366271:R804W	ENSP00000261824:R807W	R	-	1	2	KDM2B	120366239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.394000	0.52551	1.491000	0.48482	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1	152	556	0	120	1	9.998233e-01	6	42	0	120	2		0	0	0	0	0	2	1	1	151	546	0	120	2								-4.121434	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM2B	84678	broad.mit.edu	37	12	121891035	121891035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121891035C>T	ENST00000377071.4	-	13	1919	c.1847G>A	c.(1846-1848)tGc>tAc	p.C616Y	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Missense_Mutation_p.C585Y|KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B			19					GCAGGCCTCGCACTTGCGGCA	0.697000																								0							SO:0001583	missense			ENST00000377071.4	1	1	hg19	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945866	0.92593	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.73575	0.32;-0.3;-0.76	5.18	5.18	0.71444	Zinc finger, CXXC-type (2);	0.000000	0.56097	D	0.000021	D	0.90410	0.6998	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.977;0.998	D	0.92755	0.6219	10	0.87932	D	0	-19.2876	18.8727	0.92322	0.0:1.0:0.0:0.0	.	56;499;616;585;56	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	Y	616;585;616;499;616;56;616	ENSP00000366269:C585Y;ENSP00000366271:C616Y;ENSP00000445196:C499Y	ENSP00000261824:C616Y	C	-	2	0	KDM2B	120375418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.694000	0.91930	0.555000	0.69702	TGC		TCGA-IB-7651-01A-11D-2154-08	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1	28	112	0	19	1	7.253047e-01	3	9	0	19	2		0	0	0	0	0	2	1	1	28	112	0	19	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ERC1	23085	broad.mit.edu	37	12	1219453	1219453	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1219453G>T	ENST00000397203.2	+	5	1663	c.1257G>T	c.(1255-1257)agG>agT	p.R419S	ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000355446.5_Missense_Mutation_p.R419S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1			38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		CTGAGGAAAGGGAAGAAGAAA	0.388000																								0							SO:0001583	missense			ENST00000397203.2	1	1	hg19	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492438	0.64074	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.93	1.33	0.21861	.	0.059501	0.64402	D	0.000001	T	0.69717	0.3142	L	0.54323	1.7	0.49213	D	0.999763	P;D;D;D;D	0.64830	0.917;0.974;0.994;0.993;0.988	P;P;P;P;D	0.65233	0.557;0.786;0.856;0.863;0.933	T	0.67845	-0.5565	10	0.10636	T	0.68	-17.5835	2.8857	0.05660	0.2938:0.0969:0.463:0.1462	.	195;56;419;419;419	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	S	419;419;419;419;419;419;419;419;419;419;195;56	ENSP00000340054:R419S;ENSP00000380386:R419S;ENSP00000438546:R419S;ENSP00000445336:R419S;ENSP00000442739:R419S;ENSP00000347621:R419S;ENSP00000354158:R419S;ENSP00000410064:R419S	ENSP00000340054:R419S	R	+	3	2	ERC1	1089714	0.221000	0.23642	0.999000	0.59377	0.900000	0.52787	-0.547000	0.06055	0.356000	0.24157	0.585000	0.79938	AGG		TCGA-IB-7651-01A-11D-2154-08	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1	52	283	0	63	1	9.972100e-01	9	42	0	63	2		0	0	0	0	0	2	1	1	51	281	0	62	2								-2.929674	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
MORN3	283385	broad.mit.edu	37	12	122097217	122097217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122097217G>A	ENST00000355329.3	-	2	353	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3			9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				CCCCCTCATAGATGGCTCCTT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000355329.3	1	1	hg19	CCDS31917.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	1	0	1	38	334	0	69	0	1.616391e-01	0	7	0	69	2		0	0	0	0	0	2	1	1	36	324	0	69	2								-3.221884	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.860000	1.000000	1.000000	0.990175	0.990000	1	9.900000e-01	1
MORN3	283385	broad.mit.edu	37	12	122107269	122107269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107269C>T	ENST00000355329.3	-	1	291	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3			9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TCCTTCCACTCGCCCACATAG	0.627000											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000355329.3	1	1	hg19	CCDS31917.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.2	4.114304	0.77210	.	.	ENSG00000139714	ENST00000355329	T	0.62364	0.03	5.11	3.25	0.37280	.	0.052848	0.64402	D	0.000001	T	0.75421	0.3847	M	0.76938	2.355	0.43271	D	0.995226	D	0.89917	1.0	D	0.87578	0.998	T	0.74417	-0.3672	10	0.62326	D	0.03	.	7.7258	0.28759	0.0:0.747:0.1628:0.0902	.	41	Q6PF18	MORN3_HUMAN	K	41	ENSP00000347486:E41K	ENSP00000347486:E41K	E	-	1	0	MORN3	120591652	0.970000	0.33590	1.000000	0.80357	0.799000	0.45148	2.323000	0.43823	0.639000	0.30564	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	1	0	1	108	484	0	116	1	3.043198e-01	2	4	0	116	2		0	0	0	0	0	2	1	1	105	478	0	114	2								-2.991265	1	0	121412	6	41	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MORN3	283385	broad.mit.edu	37	12	122107335	122107335	+	Missense_Mutation	SNP	G	G	A	rs35779661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107335G>A	ENST00000355329.3	-	1	225	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3			9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TGGGCCTTCCGGTCCCACCCC	0.592000																								0							SO:0001583	missense			ENST00000355329.3	1	0	hg19	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450955	0.43531	0.0	9.3E-4	ENSG00000139714	ENST00000355329	T	0.73363	-0.74	5.32	2.34	0.29019	.	1.198000	0.06160	N	0.675752	T	0.70945	0.3282	L	0.50333	1.59	0.32464	N	0.543759	D	0.56287	0.975	B	0.43809	0.432	T	0.65672	-0.6111	10	0.56958	D	0.05	.	8.2315	0.31601	0.0:0.1542:0.5267:0.3191	rs35779661	19	Q6PF18	MORN3_HUMAN	W	19	ENSP00000347486:R19W	ENSP00000347486:R19W	R	-	1	2	MORN3	120591718	0.599000	0.26891	0.356000	0.25785	0.892000	0.51952	0.652000	0.24888	0.268000	0.21939	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	1	0	1	117	578	0	125	1	4.031189e-01	2	6	0	125	2		0	0	0	0	0	2	1	1	115	565	0	124	2								-2.801436	1	0	121412	112	55	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOF	54509	broad.mit.edu	37	12	122219028	122219028	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122219028G>A	ENST00000267205.2	-	3	925	c.297C>T	c.(295-297)gaC>gaT	p.D99D	TMEM120B_ENST00000538055.1_3'UTR|RHOF_ENST00000537171.1_Silent_p.D99D|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537265.1_De_novo_Start_OutOfFrame	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)			3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				GATTCATGACGTCATAGCAGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000267205.2	1	0	hg19	CCDS9222.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1	1	0	1	55	330	0	66	1	1	195	206	0	66	2		0	0	0	0	0	2	1	1	55	321	0	65	2								-3.319715	1	1	121412	2	32	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
HPD	3242	broad.mit.edu	37	12	122281734	122281734	+	Missense_Mutation	SNP	C	C	T	rs140144597	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122281734C>T	ENST00000289004.4	-	12	871	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HPD_ENST00000543163.1_Missense_Mutation_p.R240H	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase			18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			Nitisinone(DB00348)	TCTCAAGTGGCGAATCTGTTT	0.537000																								0							SO:0001583	missense			ENST00000289004.4	1	1	hg19	CCDS9224.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.07	1.826537	0.32329	0.0	3.49E-4	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64803	-0.12;-0.12	4.32	2.32	0.28847	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.558450	0.19279	N	0.118206	T	0.64605	0.2613	M	0.82517	2.595	0.36281	D	0.855792	P	0.40083	0.702	B	0.39617	0.305	T	0.74559	-0.3625	10	0.48119	T	0.1	-25.6894	12.6809	0.56922	0.0:0.4062:0.5938:0.0	.	279	P32754	HPPD_HUMAN	H	279;276;240	ENSP00000289004:R279H;ENSP00000441677:R240H	ENSP00000289004:R279H	R	-	2	0	HPD	120766117	0.999000	0.42202	0.992000	0.48379	0.502000	0.33828	1.786000	0.38694	1.003000	0.39130	0.511000	0.50034	CGC		TCGA-IB-7651-01A-11D-2154-08	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	1	0	1	36	209	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	1	34	206	0	38	2								-3.223509	1	1	121412	37	46	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
HPD	3242	broad.mit.edu	37	12	122295256	122295256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122295256C>T	ENST00000289004.4	-	4	211	c.176G>A	c.(175-177)aGc>aAc	p.S59N	HPD_ENST00000543163.1_Missense_Mutation_p.S20N|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase			18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			Nitisinone(DB00348)	GATTACATGGCTGACCACCTC	0.547000																								0							SO:0001583	missense			ENST00000289004.4	1	1	hg19	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671351	0.88348	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.63913	-0.07;-0.07	5.48	4.54	0.55810	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.149579	0.64402	D	0.000008	T	0.72228	0.3434	M	0.90870	3.155	0.49915	D	0.999838	P	0.36330	0.548	B	0.41723	0.365	T	0.78094	-0.2338	10	0.72032	D	0.01	-48.2563	12.0439	0.53469	0.0:0.7096:0.2904:0.0	.	59	P32754	HPPD_HUMAN	N	59;56;20	ENSP00000289004:S59N;ENSP00000441677:S20N	ENSP00000289004:S59N	S	-	2	0	HPD	120779639	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.017000	0.70805	2.741000	0.93983	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	1	0	1	68	399	0	89	0	2.181867e-02	0	2	0	89	2		0	0	0	0	0	2	1	1	67	389	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD9	5715	broad.mit.edu	37	12	122337749	122337749	+	Missense_Mutation	SNP	G	G	A	rs139208583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122337749G>A	ENST00000541212.1	+	3	577	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000546333.1_Intron			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9			3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				AGCCAGCATCGCGGTAATCCA	0.622000																								0							SO:0001583	missense			ENST00000541212.1	1	1	hg19	CCDS9225.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809965	0.90707	2.27E-4	0.0	ENSG00000110801	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000544724	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.62	4.66	0.58398	PDZ/DHR/GLGF (2);	0.103761	0.64402	D	0.000002	T	0.60301	0.2258	H	0.98388	4.22	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.943	T	0.73062	-0.4101	10	0.66056	D	0.02	-36.6176	11.2076	0.48780	0.0:0.0:0.5971:0.4029	.	151;151	F8W7V8;O00233	.;PSMD9_HUMAN	T	151;151;151;151;62	ENSP00000440485:A151T;ENSP00000340847:A151T;ENSP00000261817:A151T;ENSP00000443081:A151T;ENSP00000443929:A62T	ENSP00000261817:A151T	A	+	1	0	PSMD9	120822132	1.000000	0.71417	0.952000	0.39060	0.845000	0.48019	3.743000	0.55104	2.648000	0.89879	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401686.1	1	0	1	38	221	0	49	1	1	78	258	0	49	2		0	0	0	0	0	2	1	1	38	217	0	49	2								-20.000000	1	1	121400	9	41	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
WDR66	144406	broad.mit.edu	37	12	122380800	122380800	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122380800G>T	ENST00000288912.4	+	7	1964		c.e7-1		WDR66_ENST00000397454.2_Splice_Site	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66			43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)				GTCACCTACAGAAGGTATGCA	0.498000													Esophageal Squamous(85;849 1794 49757 52143)											0							SO:0001630	splice_region_variant			ENST00000288912.4	1	1	hg19	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779734	0.31502	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7853	0.63105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR66	120865183	1.000000	0.71417	0.967000	0.41034	0.144000	0.21451	6.434000	0.73408	2.316000	0.78162	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	1	0	1	48	244	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	46	239	0	55	2								-3.252253	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL7A	605	broad.mit.edu	37	12	122497016	122497016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122497016C>T	ENST00000261822.4	+	6	786	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	BCL7A_ENST00000538010.1_Missense_Mutation_p.P215S	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A			18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				AGGAGTGCCACCCTCTAAAAA	0.512000			T	MYC	BNHL								GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0							SO:0001583	missense			ENST00000261822.4	0	1	hg19	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045087	0.75846	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.65549	-0.16;0.71	5.47	5.47	0.80525	.	0.263731	0.38111	N	0.001805	T	0.66963	0.2843	L	0.29908	0.895	0.54753	D	0.99998	P;D	0.56746	0.914;0.977	B;P	0.55923	0.406;0.787	T	0.70733	-0.4791	10	0.87932	D	0	.	19.3196	0.94233	0.0:1.0:0.0:0.0	.	194;215	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	S	215;194	ENSP00000445868:P215S;ENSP00000261822:P194S	ENSP00000261822:P194S	P	+	1	0	BCL7A	120981399	0.999000	0.42202	0.950000	0.38849	0.663000	0.39108	5.296000	0.65698	2.549000	0.85964	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1	0	0	0	8	264	0	76	1	2.007539e-01	5	20	0	76	2		0	0	0	0	0	2	1	9.875784e-01	7	253	0	75	2								-8.920106	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.350000	0.160000	0.630000	0.340000	0.377726	0.350000	0	2.500000e-01	4.900000e-01
MLXIP	22877	broad.mit.edu	37	12	122618405	122618405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122618405C>T	ENST00000319080.7	+	9	1735	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W|MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W					MLX interacting protein			20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)			TCCCCAGCCACGGTTAACTTT	0.612000													Esophageal Squamous(105;787 1493 16200 18566 52466)											0							SO:0001583	missense			ENST00000319080.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.05	2.717397	0.48622	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.81415	-1.49;-1.49;-1.49	5.09	2.06	0.26882	.	0.532223	0.19799	N	0.105790	T	0.78723	0.4328	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.992	P;P	0.50708	0.648;0.513	T	0.67987	-0.5528	9	0.38643	T	0.18	0.314	8.0807	0.30744	0.0:0.7134:0.0:0.2866	.	535;535	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	W	535;142;142;125	ENSP00000312834:R535W;ENSP00000440769:R142W;ENSP00000366236:R125W	ENSP00000312834:R535W	R	+	1	2	MLXIP	121184358	0.000000	0.05858	0.053000	0.19242	0.991000	0.79684	0.859000	0.27858	0.098000	0.17522	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	1	0	0	11	102	0	16	1	9.979103e-01	3	103	0	16	2		0	0	0	0	0	2	1	9.979103e-01	10	96	0	15	2								-17.574310	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.610000	1.000000	1.000000	0.945674	0.990000	1	8.400000e-01	1
MLXIP	22877	broad.mit.edu	37	12	122620057	122620057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620057C>A	ENST00000319080.7	+	11	2008	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	MLXIP_ENST00000535996.1_3'UTR|MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N					MLX interacting protein			20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)			CCCGGAGTTCCACAGCAGCAT	0.652000													Esophageal Squamous(105;787 1493 16200 18566 52466)											0							SO:0001583	missense			ENST00000319080.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.21	3.331774	0.60853	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000366272	T;T;T	0.46451	2.51;1.85;0.87	5.16	5.16	0.70880	.	0.822880	0.11534	N	0.554380	T	0.30603	0.0770	.	.	.	0.80722	D	1	B	0.31730	0.337	B	0.23419	0.046	T	0.14559	-1.0468	9	0.12766	T	0.61	-13.6986	18.6435	0.91402	0.0:1.0:0.0:0.0	.	626	Q9HAP2	MLXIP_HUMAN	N	626;233;233;97	ENSP00000312834:H626N;ENSP00000440769:H233N;ENSP00000445891:H97N	ENSP00000312834:H626N	H	+	1	0	MLXIP	121186010	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.649000	0.61433	2.395000	0.81488	0.455000	0.32223	CAC		TCGA-IB-7651-01A-11D-2154-08	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	1	0	1	14	75	0	15	1	9.998515e-01	6	84	0	15	2		0	0	0	0	0	2	1	9.997930e-01	14	72	0	15	2								-19.999940	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997892	0.990000	1	9.900000e-01	1
MLXIP	22877	broad.mit.edu	37	12	122620104	122620104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620104G>A	ENST00000319080.7	+	11	2055	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P	MLXIP_ENST00000538698.1_Silent_p.P248P					MLX interacting protein			20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)			CGAGCAGCCCGCCTGCCCCCG	0.677000													Esophageal Squamous(105;787 1493 16200 18566 52466)											0							SO:0001819	synonymous_variant			ENST00000319080.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	1	0	1	17	59	0	15	1	9.999822e-01	6	69	0	15	2		0	0	0	0	0	2	1	9.999774e-01	16	58	0	15	2								-20.000000	1	0	120636	9	37	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
MLXIP	22877	broad.mit.edu	37	12	122622746	122622746	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122622746G>A	ENST00000319080.7	+	13	2292	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	MLXIP_ENST00000538698.1_Silent_p.R327R					MLX interacting protein			20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)			AGCAGAACCGGCAGATGAAGC	0.552000													Esophageal Squamous(105;787 1493 16200 18566 52466)											0							SO:0001819	synonymous_variant			ENST00000319080.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329769	0.24167	.	.	ENSG00000175727	ENST00000542417	.	.	.	4.4	2.52	0.30459	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	-16.2681	4.6094	0.12395	0.2854:0.1654:0.5492:0.0	.	.	.	.	D	56	.	.	G	+	2	0	MLXIP	121188699	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.251000	0.18257	0.835000	0.34877	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	1	0	1	13	53	0	14	1	9.999838e-01	9	87	0	14	2		0	0	0	0	0	2	1	9.996886e-01	13	52	0	13	2								-19.999980	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999269	0.990000	1	9.900000e-01	1
LRRC43	254050	broad.mit.edu	37	12	122669187	122669187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122669187G>A	ENST00000339777.4	+	2	300	c.272G>A	c.(271-273)cGc>cAc	p.R91H	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	p.R91H(1)		19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				GTCCGCAGCCGCCACTCCCCC	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000339777.4	1	1	hg19	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907017	0.52333	.	.	ENSG00000158113	ENST00000339777	T	0.55588	0.51	4.94	0.924	0.19418	.	.	.	.	.	T	0.23649	0.0572	N	0.08118	0	0.58432	D	0.999993	B	0.33807	0.426	B	0.11329	0.006	T	0.03981	-1.0987	9	0.52906	T	0.07	-2.3834	5.9409	0.19192	0.1277:0.4215:0.3783:0.0725	.	91	Q8N309	LRC43_HUMAN	H	91	ENSP00000344233:R91H	ENSP00000344233:R91H	R	+	2	0	LRRC43	121235140	0.001000	0.12720	0.996000	0.52242	0.951000	0.60555	-0.107000	0.10873	0.125000	0.18397	-0.384000	0.06662	CGC		TCGA-IB-7651-01A-11D-2154-08	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	1	0	0	11	181	0	28	0	3.567526e-02	0	5	0	28	2		0	0	0	0	0	2	1	9.978306e-01	11	169	0	23	2								-3.228142	1	1	120886	4	39	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.680000	0.360000	1.000000	1.000000	0.696931	0.680000	0	5.000000e-01	8.900000e-01
LRRC43	254050	broad.mit.edu	37	12	122677357	122677357	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122677357C>T	ENST00000339777.4	+	7	1183	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	LRRC43_ENST00000425921.1_Silent_p.D200D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43			19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TCGTGGAAGACGTCATCGAAG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000339777.4	1	1	hg19	CCDS45001.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	1	0	1	68	275	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	67	270	0	56	2								-20.000000	1	1	120986	1	34	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B3GNT4	79369	broad.mit.edu	37	12	122691403	122691403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122691403G>A	ENST00000324189.4	+	3	961	c.605G>A	c.(604-606)cGc>cAc	p.R202H	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000535274.1_Missense_Mutation_p.R177H	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4			13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				CACCTGCAGCGCTGGGTGGTG	0.567000																								0							SO:0001583	missense			ENST00000324189.4	1	1	hg19	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174716	0.78452	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.45668	0.89;0.89;0.89	4.93	4.04	0.47022	.	0.000000	0.50627	D	0.000104	T	0.60327	0.2260	M	0.67517	2.055	0.35791	D	0.822427	D	0.89917	1.0	D	0.71414	0.973	T	0.71876	-0.4460	10	0.72032	D	0.01	.	12.8768	0.57994	0.0799:0.0:0.9201:0.0	.	202	Q9C0J1	B3GN4_HUMAN	H	202;177;177	ENSP00000319636:R202H;ENSP00000438840:R177H;ENSP00000444534:R177H	ENSP00000319636:R202H	R	+	2	0	B3GNT4	121257356	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.880000	0.63107	1.201000	0.43203	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	1	0	1	59	318	0	62	1	4.839237e-01	7	3	0	62	2		0	0	0	0	0	2	1	1	59	313	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP6	4040	broad.mit.edu	37	12	12274332	12274332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12274332G>A	ENST00000261349.4	-	23	4646	c.4570C>T	c.(4570-4572)Cac>Tac	p.H1524Y	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6			85		Prostate(47;0.0865)			GGTGCAAAGTGCCGGTAGCTA	0.458000																								0							SO:0001583	missense			ENST00000261349.4	1	1	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343291	0.41498	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92965	-3.08;-3.14	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000004	D	0.90208	0.6939	L	0.43152	1.355	0.58432	D	0.999998	P;B	0.46912	0.886;0.012	B;B	0.41510	0.359;0.008	D	0.90167	0.4232	10	0.49607	T	0.09	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1479;1524	F5H7J9;O75581	.;LRP6_HUMAN	Y	1524;1479	ENSP00000261349:H1524Y;ENSP00000442472:H1479Y	ENSP00000261349:H1524Y	H	-	1	0	LRP6	12165599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.044000	0.71012	2.780000	0.95670	0.643000	0.83706	CAC		TCGA-IB-7651-01A-11D-2154-08	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	1	0	1	85	539	0	126	1	9.993021e-01	21	48	0	126	2		0	0	0	0	0	2	1	1	84	514	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP1	6249	broad.mit.edu	37	12	122825825	122825825	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122825825C>T	ENST00000540338.1	-	10	1967	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	CLIP1_ENST00000361654.4_Silent_p.K596K|CLIP1_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000537178.1_Silent_p.K596K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000358808.2_Silent_p.K631K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1			60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TGAAAGATACCTTCAGTTCTT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000540338.1	1	1	hg19	CCDS58285.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	0	0	0	24	695	0	105	1	9.543321e-01	7	141	0	105	2		0	0	0	0	0	2	1	9.999995e-01	22	677	0	105	2								-2.898973	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.390000	0.250000	0.560000	0.390000	0.403372	0.390000	0	3.100000e-01	4.800000e-01
CLIP1	6249	broad.mit.edu	37	12	122826040	122826040	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122826040T>G	ENST00000540338.1	-	10	1752	c.1711A>C	c.(1711-1713)Act>Cct	p.T571P	CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P|CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000358808.2_Missense_Mutation_p.T560P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1			60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TTCAGAGAAGTTATTTCTCTC	0.468000																								0							SO:0001583	missense			ENST00000540338.1	1	1	hg19	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263802	0.23136	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61859	2.7;0.66;0.66;0.68;0.68;0.07	5.25	-1.35	0.09114	.	0.997403	0.08131	N	0.993246	T	0.47563	0.1452	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.21905	0.062;0.039;0.039;0.023	B;B;B;B	0.29598	0.059;0.104;0.104;0.048	T	0.42982	-0.9419	10	0.31617	T	0.26	0.3462	10.5726	0.45209	0.0:0.4574:0.0:0.5426	.	261;525;560;571	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	P	261;560;560;405;525;571;494	ENSP00000438743:T261P;ENSP00000303585:T560P;ENSP00000351665:T560P;ENSP00000445531:T525P;ENSP00000439093:T571P;ENSP00000437786:T494P	ENSP00000303585:T560P	T	-	1	0	CLIP1	121391993	0.000000	0.05858	0.118000	0.21660	0.909000	0.53808	-0.323000	0.07997	-0.413000	0.07507	-0.379000	0.06801	ACT		TCGA-IB-7651-01A-11D-2154-08	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	0	0	1	322	1300	1	243	1	1	27	91	1	243	4		0	0	0	0	0	2	1	1	321	1272	0	242	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP1	6249	broad.mit.edu	37	12	122848584	122848584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122848584C>T	ENST00000540338.1	-	3	769	c.728G>A	c.(727-729)gGc>gAc	p.G243D	CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D|CLIP1_ENST00000545889.1_5'Flank|CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000358808.2_Missense_Mutation_p.G243D			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1			60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TAACTCCACGCCACACCACTC	0.502000																								0							SO:0001583	missense			ENST00000540338.1	1	1	hg19	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350966	0.95830	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	H	0.98883	4.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96244	0.9178	10	0.87932	D	0	-13.7061	20.0812	0.97776	0.0:1.0:0.0:0.0	.	243;243;243;243	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	D	243;243;88;243;243;243;243	ENSP00000303585:G243D;ENSP00000351665:G243D;ENSP00000445531:G243D;ENSP00000439093:G243D;ENSP00000437786:G243D;ENSP00000441409:G243D	ENSP00000303585:G243D	G	-	2	0	CLIP1	121414537	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	7.664000	0.83830	2.752000	0.94435	0.557000	0.71058	GGC		TCGA-IB-7651-01A-11D-2154-08	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	1	0	1	14	199	0	46	1	9.968212e-01	17	123	0	46	2		0	0	0	0	0	2	1	9.997455e-01	13	195	0	46	2								-17.814490	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.770000	0.440000	1.000000	1.000000	0.779081	0.770000	0	5.900000e-01	9.900000e-01
LRP6	4040	broad.mit.edu	37	12	12284915	12284915	+	Silent	SNP	G	G	A	rs1012672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12284915G>A	ENST00000261349.4	-	18	3886	c.3810C>T	c.(3808-3810)tgC>tgT	p.C1270C	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6			85		Prostate(47;0.0865)			TAAACCCATCGCACCGCCAAG	0.488000																								0		GRCh37	CM073186	LRP6	M	rs1012672	SO:0001819	synonymous_variant			ENST00000261349.4	1	0	hg19	CCDS8647.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	0	0	1	72	279	0	80	1	9.999124e-01	14	41	0	80	2		0	0	0	0	0	2	1	1	70	270	0	78	2								-1.117333	0	1	121412	7065	71	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP1	6249	broad.mit.edu	37	12	122862247	122862247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122862247C>T	ENST00000540338.1	-	2	387	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S|CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S|CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000358808.2_Missense_Mutation_p.G116S			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1			60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				GTAAATATGCCCTTTAAAGGT	0.507000																								0							SO:0001583	missense			ENST00000540338.1	1	1	hg19	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823363	0.96989	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	H	0.99794	4.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99023	1.0818	10	0.87932	D	0	-16.0398	20.0912	0.97820	0.0:1.0:0.0:0.0	.	116;116;116;116	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	S	116	ENSP00000303585:G116S;ENSP00000351665:G116S;ENSP00000445531:G116S;ENSP00000439093:G116S;ENSP00000437786:G116S;ENSP00000441409:G116S	ENSP00000303585:G116S	G	-	1	0	CLIP1	121428200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.696000	0.84270	2.746000	0.94184	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	1	0	1	116	429	0	114	1	9.999999e-01	21	64	0	114	2		0	0	0	0	0	2	1	1	114	412	0	114	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC8	55596	broad.mit.edu	37	12	122958687	122958687	+	Missense_Mutation	SNP	G	G	A	rs111823200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958687G>A	ENST00000336229.4	-	14	1611	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8			23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				GGGAGTCAGCGGCGGGGTGCC	0.577000																								0							SO:0001583	missense			ENST00000336229.4	1	1	hg19		4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	24.5	4.536879	0.85812	0.007209	0.0	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.57436	0.73;0.73;0.7;0.4	5.96	5.07	0.68467	.	0.047509	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74258	2.255	0.80722	D	1	B	0.32128	0.357	B	0.20577	0.03	T	0.54754	-0.8246	10	0.66056	D	0.02	-8.9204	15.2854	0.73826	0.0671:0.0:0.9328:0.0	.	494	Q6NZY4	ZCHC8_HUMAN	L	256;256;494;105;105	ENSP00000441423:P256L;ENSP00000438993:P256L;ENSP00000337313:P494L;ENSP00000440028:P105L	ENSP00000337313:P494L	P	-	2	0	ZCCHC8	121524640	1.000000	0.71417	0.090000	0.20809	0.751000	0.42716	6.898000	0.75676	1.531000	0.49152	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	76	311	0	73	1	1	47	95	0	73	2		0	0	0	0	0	2	1	1	72	288	0	73	2								-2.991724	1	0	118888	85	52	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC8	55596	broad.mit.edu	37	12	122958719	122958719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958719G>A	ENST00000336229.4	-	14	1579	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	ZCCHC8_ENST00000538116.1_Silent_p.V94V|ZCCHC8_ENST00000543897.1_Silent_p.V245V|ZCCHC8_ENST00000536306.1_Silent_p.V245V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8			23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				GAGGGGTGAAGACGGGTGGAG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000336229.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	68	290	0	92	1	1	31	109	0	92	2		0	0	0	0	0	2	1	1	61	272	0	92	2								-20.000000	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC8	55596	broad.mit.edu	37	12	122962754	122962754	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122962754G>A	ENST00000336229.4	-	12	1356	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	ZCCHC8_ENST00000538116.1_Splice_Site_p.A20V|ZCCHC8_ENST00000543897.1_Splice_Site_p.A171V|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8			23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TCTATTTACCGCTTGGAAGTT	0.378000																								0							SO:0001630	splice_region_variant			ENST00000336229.4	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	13.91	2.376856	0.42105	0.0	1.22E-4	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054;ENST00000536663	T;T;T;T	0.46451	0.89;0.89;0.87;0.93	5.81	2.05	0.26809	.	0.932856	0.09295	N	0.821737	T	0.29458	0.0734	L	0.29908	0.895	0.39455	D	0.967477	B	0.06786	0.001	B	0.04013	0.001	T	0.06679	-1.0813	10	0.36615	T	0.2	0.1657	6.4821	0.22069	0.255:0.0:0.6284:0.1166	.	409	Q6NZY4	ZCHC8_HUMAN	V	171;171;409;20;20;171;171	ENSP00000441423:A171V;ENSP00000438993:A171V;ENSP00000337313:A409V;ENSP00000440028:A20V	ENSP00000337313:A409V	A	-	2	0	ZCCHC8	121528707	0.110000	0.22057	0.637000	0.29366	0.883000	0.51084	0.314000	0.19432	0.121000	0.18284	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	11	31	0	11	1	9.999551e-01	10	56	0	11	2		0	0	0	0	0	2	1	9.990785e-01	11	31	0	11	2								-11.386690	1	1	120672	1	27	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999540	0.990000	1	9.900000e-01	1
KNTC1	9735	broad.mit.edu	37	12	123026646	123026646	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123026646A>G	ENST00000333479.7	+	6	672	c.495A>G	c.(493-495)acA>acG	p.T165T	KNTC1_ENST00000450485.2_Silent_p.T165T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1			72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TTTGTATTACAAACCTTCAGC	0.239000																								0							SO:0001819	synonymous_variant			ENST00000333479.7	0	1	hg19	CCDS45002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2	1	0	0	5	34	0	8	0	2.214089e-01	1	5	0	8	2		0	0	0	0	0	2	1	9.282655e-01	5	31	0	8	2								-11.431680	1	1	119564	1	15	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.560000	1.000000	1.000000	0.953706	0.990000	1	9.000000e-01	1
KNTC1	9735	broad.mit.edu	37	12	123072361	123072361	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123072361A>G	ENST00000333479.7	+	39	4011	c.3834A>G	c.(3832-3834)tcA>tcG	p.S1278S	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1			72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TGGTTGGTTCATTTGGTACCT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000333479.7	1	1	hg19	CCDS45002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2	1	0	1	26	143	0	23	0	6.952067e-01	1	14	0	23	2		0	0	0	0	0	2	1	9.999999e-01	26	141	0	23	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999836	0.990000	1	9.900000e-01	1
KNTC1	9735	broad.mit.edu	37	12	123082326	123082326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123082326G>A	ENST00000333479.7	+	44	4581	c.4404G>A	c.(4402-4404)acG>acA	p.T1468T	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1			72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TCATTGAAACGCTGCTCCACA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000333479.7	1	1	hg19	CCDS45002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2	1	0	1	79	289	0	60	1	9.458073e-01	5	15	0	60	2		0	0	0	0	0	2	1	1	77	285	0	60	2								-3.962137	1	1	120990	27	45	1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP6	4040	broad.mit.edu	37	12	12312866	12312866	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12312866G>T	ENST00000261349.4	-	11	2388	c.2312C>A	c.(2311-2313)cCt>cAt	p.P771H	LRP6_ENST00000543091.1_Missense_Mutation_p.P771H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6			85		Prostate(47;0.0865)			GTCTATCTTAGGTTTTCCACC	0.358000																								0							SO:0001583	missense			ENST00000261349.4	1	1	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311587	0.81358	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96685	-4.09;-4.09	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000009	D	0.98701	0.9564	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98922	1.0784	10	0.54805	T	0.06	.	19.7619	0.96323	0.0:0.0:1.0:0.0	.	771;771	F5H7J9;O75581	.;LRP6_HUMAN	H	771	ENSP00000261349:P771H;ENSP00000442472:P771H	ENSP00000261349:P771H	P	-	2	0	LRP6	12204133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.681000	0.91329	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	1	0	1	88	456	0	100	1	9.865396e-01	10	27	0	100	2		0	0	0	0	0	2	1	1	88	448	0	99	2								-3.148174	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC62	84660	broad.mit.edu	37	12	123265728	123265728	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123265728A>G	ENST00000253079.6	+	3	591	c.247A>G	c.(247-249)Act>Gct	p.T83A	CCDC62_ENST00000537566.1_5'UTR|CCDC62_ENST00000392440.2_5'Flank|CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62			20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				ACATAAAAGAACTGAAATAAT	0.373000																								0							SO:0001583	missense			ENST00000253079.6	1	1	hg19	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236661	0.58886	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.30714	1.52;1.52	5.5	4.33	0.51752	.	0.307141	0.28499	N	0.015125	T	0.21801	0.0525	L	0.41236	1.265	0.80722	D	1	B;P	0.37207	0.4;0.587	B;B	0.36464	0.173;0.225	T	0.02603	-1.1135	10	0.09084	T	0.74	-10.1062	9.9655	0.41721	0.8481:0.0:0.0:0.1519	.	83;83	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	A	83	ENSP00000253079:T83A;ENSP00000376236:T83A	ENSP00000253079:T83A	T	+	1	0	CCDC62	121831681	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	4.664000	0.61540	0.891000	0.36235	0.528000	0.53228	ACT		TCGA-IB-7651-01A-11D-2154-08	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	1	0	1	60	262	0	57	0	3.591643e-02	1	1	0	57	2		0	0	0	0	0	2	1	1	59	258	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC62	84660	broad.mit.edu	37	12	123297931	123297931	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123297931A>G	ENST00000253079.6	+	11	2310	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V|CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V|CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62			20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				ACTGCTGCCCATCAGCCATGA	0.517000																								0							SO:0001583	missense			ENST00000253079.6	1	1	hg19	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870432	0.33069	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.45668	1.47;1.47;0.89;0.89	5.56	-2.86	0.05717	.	0.529195	0.17425	N	0.174662	T	0.26448	0.0646	L	0.31926	0.97	0.25412	N	0.988349	B;B;B	0.15930	0.01;0.015;0.008	B;B;B	0.19946	0.02;0.027;0.019	T	0.16660	-1.0395	10	0.38643	T	0.18	-2.8178	8.1127	0.30924	0.3161:0.5281:0.1558:0.0	.	656;417;656	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	V	656;656;417;417	ENSP00000253079:I656V;ENSP00000376236:I656V;ENSP00000445045:I417V;ENSP00000376235:I417V	ENSP00000253079:I656V	I	+	1	0	CCDC62	121863884	0.909000	0.30893	0.904000	0.35570	0.697000	0.40408	0.254000	0.18314	-0.376000	0.07943	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	0	0	1	65	281	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	65	278	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIP1R	9026	broad.mit.edu	37	12	123339642	123339642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123339642C>T	ENST00000253083.4	+	10	944	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related			26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TGCTGTACTTCAAGCGGCTCA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000253083.4	1	1	hg19	CCDS31922.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	1	0	0	171	619	0	139	1	1	41	72	0	139	2		0	0	0	0	0	2	1	1	167	609	0	134	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP6	4040	broad.mit.edu	37	12	12334299	12334299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12334299C>T	ENST00000261349.4	-	6	1127	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	LRP6_ENST00000543091.1_Missense_Mutation_p.D351N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6			85		Prostate(47;0.0865)			AGAACAATGTCTGTAAAATCT	0.423000																								0							SO:0001583	missense			ENST00000261349.4	1	1	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619377	0.66787	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91068	-2.78;-2.78	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.93621	0.7963	L	0.55990	1.75	0.80722	D	1	D;P	0.71674	0.998;0.721	D;B	0.66351	0.943;0.32	D	0.90785	0.4682	10	0.22109	T	0.4	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	351;351	F5H7J9;O75581	.;LRP6_HUMAN	N	351	ENSP00000261349:D351N;ENSP00000442472:D351N	ENSP00000261349:D351N	D	-	1	0	LRP6	12225566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.786000	0.85741	2.752000	0.94435	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	1	0	1	33	465	0	109	1	7.540128e-01	5	35	0	109	2		0	0	0	0	0	2	1	1	33	461	0	109	2								-7.412922	1	1	121412	1	34	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.790000	0.550000	1.000000	1.000000	0.806330	0.790000	0	6.600000e-01	9.700000e-01
VPS37B	79720	broad.mit.edu	37	12	123351959	123351959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123351959G>A	ENST00000267202.2	-	4	943	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)			5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TAGGGAAGGGGGGCGGTAGGT	0.701000																								0							SO:0001583	missense			ENST00000267202.2	1	1	hg19	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344724	0.11126	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.59364	0.27;0.3	5.33	-6.21	0.02065	.	0.673292	0.14633	N	0.307669	T	0.42653	0.1212	L	0.60455	1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28073	-1.0055	10	0.40728	T	0.16	-3.6739	5.8472	0.18673	0.1619:0.4145:0.3326:0.091	.	188	Q9H9H4	VP37B_HUMAN	S	188;186	ENSP00000267202:P188S;ENSP00000446075:P186S	ENSP00000267202:P188S	P	-	1	0	VPS37B	121917912	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-0.946000	0.03677	-0.176000	0.13171	CCC		TCGA-IB-7651-01A-11D-2154-08	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	0	0	0	14	413	0	56	1	8.242676e-01	6	90	0	56	2		0	0	0	0	0	2	1	9.997204e-01	14	403	0	54	2								-13.558220	1	0	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.390000	0.220000	0.610000	0.390000	0.404813	0.390000	0	2.900000e-01	5.000000e-01
VPS37B	79720	broad.mit.edu	37	12	123352062	123352062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123352062C>T	ENST00000267202.2	-	4	840	c.459G>A	c.(457-459)cgG>cgA	p.R153R	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)			5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				CGATTTTCACCCGTCGCATGT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000267202.2	1	1	hg19	CCDS9239.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	1	0	1	145	879	0	181	1	1	55	89	0	181	2		0	0	0	0	0	2	1	1	142	859	0	179	2								-20.000000	1	1	0	0		1	0	1	1	1.988890	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OGFOD2	79676	broad.mit.edu	37	12	123463318	123463318	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463318G>A	ENST00000228922.7	+	6	582	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000397389.2_Missense_Mutation_p.G124R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000315580.5_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2			8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			Vitamin C(DB00126)	GCACGAGCTCGGGCTGGACGA	0.662000																								0							SO:0001583	missense			ENST00000228922.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.4	3.979597	0.74360	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89196	-2.48;0.99	5.42	5.42	0.78866	Prolyl 4-hydroxylase, alpha subunit (1);	0.043908	0.85682	D	0.000000	D	0.95204	0.8445	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95366	0.8460	10	0.62326	D	0.03	-34.5298	19.2243	0.93812	0.0:0.0:1.0:0.0	.	184;124	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	124;20;20;20;20;20;20;20;184;20	ENSP00000380544:G124R;ENSP00000228922:G184R	ENSP00000228922:G184R	G	+	1	0	OGFOD2	122029271	1.000000	0.71417	0.927000	0.36925	0.189000	0.23516	8.018000	0.88722	2.539000	0.85634	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	0	0	0	7	164	0	23	1	6.412333e-01	4	46	0	23	2		0	0	0	0	0	2	1	9.735378e-01	7	148	0	22	2								-9.784493	1	0	120582	2	26	1						0.170000	2.060000									0	0
OGFOD2	79676	broad.mit.edu	37	12	123463381	123463381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463381C>A	ENST00000228922.7	+	6	645	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L145M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000315580.5_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2			8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			Vitamin C(DB00126)	GATGGCCCTGCTGTACCCTGA	0.667000																								0							SO:0001583	missense			ENST00000228922.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399435	0.83120	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.89415	-2.51;0.78	5.42	4.52	0.55395	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94865	0.8025	10	0.66056	D	0.02	-20.6502	14.5866	0.68328	0.0:0.9285:0.0:0.0715	.	205;145	Q6N063;Q6N063-2	OGFD2_HUMAN;.	M	145;41;41;41;41;41;41;41;205;41	ENSP00000380544:L145M;ENSP00000228922:L205M	ENSP00000228922:L205M	L	+	1	2	OGFOD2	122029334	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.083000	0.57643	1.253000	0.44018	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	0	0	1	32	159	1	26	1	6.867736e-01	12	48	1	26	9		0	0	0	0	0	2	1	1	28	135	0	18	2								-20.000000	1	0	0	0		1						0.170000	2.060000									0	0
OGFOD2	79676	broad.mit.edu	37	12	123463481	123463481	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463481A>C	ENST00000228922.7	+	6	745	c.713A>C	c.(712-714)aAt>aCt	p.N238T	ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000397389.2_Missense_Mutation_p.N178T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000315580.5_5'Flank|OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2			8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			Vitamin C(DB00126)	CACTATGATAATGCCGAGCTC	0.632000																								0							SO:0001583	missense			ENST00000228922.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	22.4	4.284205	0.80803	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.86366	-2.11;1.02	5.42	5.42	0.78866	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93291	0.6668	10	0.49607	T	0.09	-23.1009	15.4665	0.75406	1.0:0.0:0.0:0.0	.	238;178	Q6N063;Q6N063-2	OGFD2_HUMAN;.	T	178;74;74;74;74;74;74;74;238;74	ENSP00000380544:N178T;ENSP00000228922:N238T	ENSP00000228922:N238T	N	+	2	0	OGFOD2	122029434	1.000000	0.71417	0.194000	0.23346	0.775000	0.43874	9.339000	0.96797	2.054000	0.61138	0.459000	0.35465	AAT		TCGA-IB-7651-01A-11D-2154-08	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	1	0	1	52	200	0	45	1	9.999909e-01	14	56	0	45	2		0	0	0	0	0	2	1	1	51	195	0	45	2								-20.000000	1	0	0	0		1						0.170000	2.060000									0	0
PITPNM2	57605	broad.mit.edu	37	12	123481078	123481078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481078G>A	ENST00000542749.1	-	11	1772	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	PITPNM2_ENST00000280562.5_Missense_Mutation_p.A570V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A570V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A291V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GTAGCACAGGGCATCAAATGC	0.637000																								0							SO:0001583	missense			ENST00000542749.1	0	1	hg19	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204959	0.95033	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.83	4.83	0.62350	.	0.215214	0.38326	N	0.001722	T	0.51702	0.1690	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.60026	-0.7343	10	0.72032	D	0.01	-33.0557	17.9298	0.88993	0.0:0.0:1.0:0.0	.	570;570	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	V	570;570;291;570	ENSP00000280562:A570V;ENSP00000322218:A570V;ENSP00000376223:A291V;ENSP00000437611:A570V	ENSP00000280562:A570V	A	-	2	0	PITPNM2	122047031	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.584000	0.98220	2.236000	0.73375	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	0	0	15	323	1	39	0	5.321045e-02	0	8	1	39	2		0	0	0	0	0	2	0	4.993783e-02	15	321	1	37	26								-15.905570	1	0	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.550000	0.310000	1.000000	0.520000	0.590943	0.550000	0	4.200000e-01	7.500000e-01
PITPNM2	57605	broad.mit.edu	37	12	123481101	123481101	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481101G>A	ENST00000542749.1	-	11	1749	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	PITPNM2_ENST00000280562.5_Silent_p.V562V|PITPNM2_ENST00000320201.4_Silent_p.V562V|PITPNM2_ENST00000392428.1_Silent_p.V283V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GGATGCCCCCGACGCAGTCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000542749.1	1	1	hg19	CCDS9242.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	1	0	0	16	334	0	55	0	9.844747e-02	0	11	0	55	2		0	0	0	0	0	2	1	9.999301e-01	15	330	0	54	2								-16.908780	1	0	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.560000	0.330000	1.000000	0.540000	0.604361	0.560000	0	4.300000e-01	7.600000e-01
PITPNM2	57605	broad.mit.edu	37	12	123485384	123485384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123485384G>A	ENST00000542749.1	-	8	1228	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PITPNM2_ENST00000280562.5_Missense_Mutation_p.R389C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GCACCCTGGCGGTACAGACCA	0.637000																								0							SO:0001583	missense			ENST00000542749.1	1	1	hg19	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045374	0.36085	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47528	2.03;2.03;0.84;2.03	4.51	3.6	0.41247	.	0.826438	0.11094	N	0.600425	T	0.55513	0.1925	L	0.55213	1.73	0.31186	N	0.701536	B;P;P	0.52170	0.007;0.951;0.951	B;P;B	0.51229	0.002;0.663;0.326	T	0.60495	-0.7252	10	0.72032	D	0.01	-14.2141	13.851	0.63496	0.0:0.1552:0.8448:0.0	.	389;389;389	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	C	389;389;110;389	ENSP00000280562:R389C;ENSP00000322218:R389C;ENSP00000376223:R110C;ENSP00000437611:R389C	ENSP00000280562:R389C	R	-	1	0	PITPNM2	122051337	0.760000	0.28428	0.907000	0.35723	0.291000	0.27294	2.792000	0.47837	1.179000	0.42884	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	1	0	1	33	157	0	50	0	4.883099e-01	0	9	0	50	2		0	0	0	0	0	2	1	1	33	152	0	50	2								-3.172115	1	1	121412	1	31	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PITPNM2	57605	broad.mit.edu	37	12	123494407	123494407	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123494407G>A	ENST00000542749.1	-	4	696	c.633C>T	c.(631-633)atC>atT	p.I211I	PITPNM2_ENST00000280562.5_Silent_p.I211I|PITPNM2_ENST00000320201.4_Silent_p.I211I|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Silent_p.I211I|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CGGTGTCGTGGATGAACCTCT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000542749.1	1	1	hg19	CCDS9242.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	1	0	1	114	574	0	155	1	7.372475e-01	6	9	0	155	2		0	0	0	0	0	2	1	1	113	564	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITPNM2	57605	broad.mit.edu	37	12	123498455	123498455	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123498455G>T	ENST00000542749.1	-	2	276	c.213C>A	c.(211-213)agC>agA	p.S71R	PITPNM2_ENST00000280562.5_Missense_Mutation_p.S71R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S71R|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				AGCGGAACCAGCTGGGAATGT	0.632000																								0							SO:0001583	missense			ENST00000542749.1	1	1	hg19	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095939	0.76870	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.44881	0.91;0.91;0.91	4.42	3.52	0.40303	START-like domain (1);	0.301301	0.34291	N	0.004093	T	0.47192	0.1432	L	0.50993	1.605	0.80722	D	1	P;B;P	0.50272	0.933;0.391;0.603	P;P;P	0.53313	0.723;0.579;0.521	T	0.43032	-0.9416	10	0.54805	T	0.06	-12.4612	9.8786	0.41220	0.1677:0.0:0.8323:0.0	.	71;71;71	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	R	71	ENSP00000280562:S71R;ENSP00000322218:S71R;ENSP00000437611:S71R	ENSP00000280562:S71R	S	-	3	2	PITPNM2	122064408	1.000000	0.71417	0.984000	0.44739	0.983000	0.72400	4.645000	0.61404	0.977000	0.38444	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	0	0	0	12	353	1	70	0	6.803460e-02	0	12	1	70	2		0	0	0	0	0	2	1	9.990926e-01	12	349	0	69	2								-3.831092	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.410000	0.220000	1.000000	0.380000	0.467275	0.410000	0	3.000000e-01	5.800000e-01
SBNO1	55206	broad.mit.edu	37	12	123794273	123794273	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123794273A>G	ENST00000602398.1	-	26	3553	c.3426T>C	c.(3424-3426)taT>taC	p.Y1142Y	SBNO1_ENST00000267176.4_Silent_p.Y1141Y|SBNO1_ENST00000420886.2_Silent_p.Y1142Y|SBNO1_ENST00000602750.1_Silent_p.Y1141Y			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)			62	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TTCCCATATCATATCTTCCAT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000602398.1	1	1	hg19	CCDS53844.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	0	1	55	449	1	106	1	9.828512e-01	17	97	1	106	6		0	0	0	0	0	2	1	9.999996e-01	51	439	1	105	16								-19.106150	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998799	0.990000	1	9.900000e-01	1
SBNO1	55206	broad.mit.edu	37	12	123814975	123814975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123814975C>T	ENST00000602398.1	-	9	1252	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SBNO1_ENST00000267176.4_Silent_p.S374S|SBNO1_ENST00000420886.2_Silent_p.S375S|SBNO1_ENST00000602750.1_Silent_p.S374S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)			62	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CCTTATTTAACGAATGAACCA	0.294000																								0							SO:0001819	synonymous_variant			ENST00000602398.1	1	1	hg19	CCDS53844.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	1	0	0	11	103	0	36	1	9.204973e-01	19	25	0	36	2		0	0	0	0	0	2	1	9.981148e-01	11	97	0	34	2								-17.130760	1	1	121378	2	31	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.630000	1.000000	1.000000	0.952766	0.990000	1	8.700000e-01	1
SETD8	387893	broad.mit.edu	37	12	123889552	123889552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123889552C>T	ENST00000402868.3	+	7	1205	c.779C>T	c.(778-780)gCt>gTt	p.A260V	SETD8_ENST00000330479.4_Missense_Mutation_p.A260V			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8			13	all_neural(191;0.101)|Medulloblastoma(191;0.163)				AAACGGGAGGCTCTGTACGCA	0.542000																								0							SO:0001583	missense			ENST00000402868.3	1	1	hg19	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708942	0.89018	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.85773	-2.03;-2.03;-2.03	5.02	5.02	0.67125	SET domain (3);	0.046821	0.85682	D	0.000000	T	0.78285	0.4259	L	0.31804	0.96	0.80722	D	1	P;P	0.36438	0.553;0.498	B;B	0.30943	0.122;0.074	T	0.80202	-0.1480	10	0.54805	T	0.06	-12.6544	18.7023	0.91625	0.0:1.0:0.0:0.0	.	301;260	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	V	260;260;251	ENSP00000384629:A260V;ENSP00000332995:A260V;ENSP00000413811:A251V	ENSP00000332995:A260V	A	+	2	0	SETD8	122455505	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.050000	0.71063	2.492000	0.84095	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	1	0	1	45	237	0	56	1	9.645747e-01	6	25	0	56	2		0	0	0	0	0	2	1	1	43	213	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SNRNP35	11066	broad.mit.edu	37	12	123950548	123950548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123950548G>T	ENST00000526639.2	+	2	1040	c.461G>T	c.(460-462)aGa>aTa	p.R154I	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)			8					GGGCAACTGAGATTTGGGGGA	0.517000																								0							SO:0001583	missense			ENST00000526639.2	1	1	hg19	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245181	0.95272	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.75477	-0.94;-0.94;-0.94	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86936	0.2076	10	0.87932	D	0	-15.4667	20.034	0.97549	0.0:0.0:1.0:0.0	.	159;154	Q16560-2;Q16560	.;U1SBP_HUMAN	I	154;159;154	ENSP00000432595:R154I;ENSP00000403310:R159I;ENSP00000340774:R154I	ENSP00000340774:R154I	R	+	2	0	SNRNP35	122516501	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.389000	0.97243	2.753000	0.94483	0.555000	0.69702	AGA		TCGA-IB-7651-01A-11D-2154-08	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	1	0	1	106	469	0	91	1	1	39	87	0	91	2		0	0	0	0	0	2	1	1	103	454	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RILPL1	353116	broad.mit.edu	37	12	123983096	123983096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123983096G>A	ENST00000376874.4	-	4	1031	c.796C>T	c.(796-798)Cct>Tct	p.P266S	RILPL1_ENST00000340724.6_Missense_Mutation_p.P114S	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1			7	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CTCACCTCAGGCTCCTCCTCC	0.607000																								0							SO:0001583	missense			ENST00000376874.4	1	1	hg19	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333126	0.24167	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.19394	2.15;2.15	5.54	3.48	0.39840	.	0.650449	0.15025	N	0.284775	T	0.13372	0.0324	L	0.40543	1.245	0.58432	D	0.999999	B;B;B	0.23249	0.002;0.049;0.082	B;B;B	0.25140	0.006;0.026;0.058	T	0.06991	-1.0796	10	0.09590	T	0.72	-20.6686	3.4791	0.07595	0.1194:0.1558:0.5535:0.1713	.	242;266;115	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	S	266;114	ENSP00000366070:P266S;ENSP00000345874:P114S	ENSP00000345874:P114S	P	-	1	0	RILPL1	122549049	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	2.138000	0.42140	1.303000	0.44873	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	1	0	1	53	273	0	57	1	9.998902e-01	15	57	0	57	2		0	0	0	0	0	2	1	1	48	258	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF2B1	1967	broad.mit.edu	37	12	124115056	124115056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124115056G>A	ENST00000424014.2	-	3	348	c.140C>T	c.(139-141)gCg>gTg	p.A47V	EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.A47V|EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa			10	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GGTGAGATTCGCCCTCAGACC	0.537000																								0							SO:0001583	missense			ENST00000424014.2	0	1	hg19	CCDS31924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.22|14.22	2.469841|2.469841	0.43839|0.43839	.|.	.|.	ENSG00000111361|ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073|ENST00000534960	D;D;D;D|.	0.92495|.	-3.05;-3.05;-3.05;-3.05|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.162985|.	0.53938|.	D|.	0.000048|.	T|.	0.36468|.	0.0968|.	N|N	0.11064|0.11064	0.09|0.09	0.37228|0.37228	D|D	0.905578|0.905578	D;P;B|.	0.56968|.	0.978;0.836;0.033|.	B;B;B|.	0.34452|.	0.183;0.036;0.002|.	T|.	0.38023|.	-0.9680|.	10|.	0.33940|.	T|.	0.23|.	-19.2572|-19.2572	10.5723|10.5723	0.45206|0.45206	0.0:0.2524:0.6136:0.134|0.0:0.2524:0.6136:0.134	.|.	47;34;47|.	B4DGX0;F5H0D0;Q14232|.	.;.;EI2BA_HUMAN|.	V|X	47;47;34;47|63	ENSP00000416250:A47V;ENSP00000228958:A47V;ENSP00000438060:A34V;ENSP00000444183:A47V|.	ENSP00000228958:A47V|.	A|R	-|-	2|1	0|2	EIF2B1|EIF2B1	122681009|122681009	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.888000|0.888000	0.51559|0.51559	3.160000|3.160000	0.50739|0.50739	2.459000|2.459000	0.83118|0.83118	0.462000|0.462000	0.41574|0.41574	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	0	0	0	6	256	0	55	1	9.399344e-01	13	205	0	55	2		0	0	0	0	0	2	1	9.615416e-01	6	248	0	54	2								-3.808653	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.300000	0.120000	1.000000	0.270000	0.370707	0.300000	0	1.900000e-01	4.800000e-01
ATP6V0A2	23545	broad.mit.edu	37	12	124221607	124221607	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124221607T>C	ENST00000330342.3	+	9	1075	c.827T>C	c.(826-828)gTa>gCa	p.V276A		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2			26	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CTTCCCCAGGTACTGCACAAA	0.502000																								0							SO:0001630	splice_region_variant			ENST00000330342.3	1	0	hg19	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955480	0.73902	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87029	-2.2;-2.2	5.68	4.5	0.54988	.	0.104725	0.64402	D	0.000004	D	0.92476	0.7611	M	0.74546	2.27	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	D	0.92626	0.6112	10	0.87932	D	0	-33.8503	12.8333	0.57759	0.0:0.0:0.1364:0.8636	.	276;276	Q9Y487;Q8TBM3	VPP2_HUMAN;.	A	276;276;146	ENSP00000332247:V276A;ENSP00000443441:V146A	ENSP00000332247:V276A	V	+	2	0	ATP6V0A2	122787560	1.000000	0.71417	0.985000	0.45067	0.393000	0.30537	8.023000	0.88764	0.945000	0.37605	0.482000	0.46254	GTA		TCGA-IB-7651-01A-11D-2154-08	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	1	0	1	84	325	0	83	1	9.996587e-01	12	36	0	83	2		0	0	0	0	0	2	1	1	84	315	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124256171	124256171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124256171G>A	ENST00000409039.3	+	3	164	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				ACTGAGAACCGAATCTCTAGG	0.408000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101325	0.20632	2.66E-4	0.0	ENSG00000197653	ENST00000409039	T	0.22134	1.97	3.85	1.7	0.24286	.	.	.	.	.	T	0.10680	0.0261	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.34279	-0.9835	9	0.25106	T	0.35	.	2.7374	0.05244	0.2007:0.0:0.5023:0.297	.	47	Q8IVF4	DYH10_HUMAN	K	47	ENSP00000386770:E47K	ENSP00000386770:E47K	E	+	1	0	DNAH10	122822124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.289000	0.02780	0.216000	0.20781	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	12	74	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.992472e-01	12	72	0	25	2								-19.773450	1	1	120804	1	29	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.910000	1.000000	1.000000	0.994812	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124270422	124270422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124270422C>T	ENST00000409039.3	+	9	1202	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GCTCATGGAGCGCATCGCCTG	0.522000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199323	0.79015	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.52	3.53	0.40419	Dynein heavy chain, domain-1 (1);	0.000000	0.56097	D	0.000025	T	0.76321	0.3971	M	0.90369	3.11	0.53688	D	0.999978	D	0.89917	1.0	D	0.81914	0.995	T	0.82989	-0.0183	10	0.87932	D	0	.	14.7437	0.69474	0.4336:0.5664:0.0:0.0	.	393	Q8IVF4	DYH10_HUMAN	C	393	ENSP00000386770:R393C	ENSP00000386770:R393C	R	+	1	0	DNAH10	122836375	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	2.448000	0.44926	1.397000	0.46682	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	71	305	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	68	300	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124274538	124274538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124274538G>A	ENST00000409039.3	+	11	1527	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	p.R501H(1)|p.R319H(1)		52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GACCCCAAGCGCATTGATGAT	0.463000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.22	3.333288	0.60853	.	.	ENSG00000197653	ENST00000409039	T	0.55760	0.5	5.2	5.2	0.72013	Dynein heavy chain, domain-1 (1);	0.251815	0.27068	N	0.021095	T	0.65770	0.2723	M	0.73962	2.25	0.29940	N	0.821176	D	0.71674	0.998	P	0.57548	0.823	T	0.66952	-0.5793	10	0.45353	T	0.12	.	12.4417	0.55629	0.0809:0.0:0.9191:0.0	.	501	Q8IVF4	DYH10_HUMAN	H	501	ENSP00000386770:R501H	ENSP00000386770:R501H	R	+	2	0	DNAH10	122840491	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	4.281000	0.58965	2.446000	0.82766	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	137	682	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	1	137	672	0	178	2								-20.000000	1	1	121412	2	30	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124289558	124289558	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124289558T>G	ENST00000409039.3	+	17	2629	c.2604T>G	c.(2602-2604)atT>atG	p.I868M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				AAAAGAAAATTTATGAGGTCC	0.443000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306600	0.40795	.	.	ENSG00000197653	ENST00000409039	T	0.24350	1.86	5.42	-3.79	0.04320	.	0.494884	0.17038	N	0.189451	T	0.33760	0.0874	L	0.57536	1.79	0.28725	N	0.902835	P;P;D	0.59357	0.886;0.819;0.985	P;P;P	0.59595	0.628;0.611;0.86	T	0.31223	-0.9951	10	0.15066	T	0.55	.	12.6907	0.56972	0.0:0.6709:0.1208:0.2083	.	868;743;868	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	M	868	ENSP00000386770:I868M	ENSP00000386770:I868M	I	+	3	3	DNAH10	122855511	0.318000	0.24598	0.002000	0.10522	0.182000	0.23217	-0.382000	0.07408	-1.010000	0.03396	-0.491000	0.04670	ATT		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	64	276	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	64	273	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124303737	124303737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124303737G>A	ENST00000409039.3	+	22	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TCAGATAGAGGAGTTTGCAAA	0.393000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	5.950	0.359278	0.11239	.	.	ENSG00000197653	ENST00000409039	T	0.21191	2.02	5.18	1.15	0.20763	.	.	.	.	.	T	0.09730	0.0239	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41305	-0.9516	9	0.13470	T	0.59	.	6.9428	0.24502	0.1514:0.2907:0.5579:0.0	.	1196	Q8IVF4	DYH10_HUMAN	K	1196	ENSP00000386770:E1196K	ENSP00000386770:E1196K	E	+	1	0	DNAH10	122869690	0.055000	0.20627	0.000000	0.03702	0.064000	0.16182	0.915000	0.28638	-0.064000	0.13043	0.455000	0.32223	GAG		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	16	85	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999588e-01	16	85	0	21	2								-11.185380	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999204	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124320029	124320029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124320029C>T	ENST00000409039.3	+	27	4527	c.4502C>T	c.(4501-4503)cCg>cTg	p.P1501L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TCACAACTTCCGGAAGAGGCA	0.348000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914796	0.72983	2.71E-4	1.22E-4	ENSG00000197653	ENST00000409039	T	0.66280	-0.2	6.02	6.02	0.97574	Dynein heavy chain, domain-2 (1);	0.077772	0.52532	U	0.000069	D	0.89223	0.6654	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92902	0.6340	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1501	Q8IVF4	DYH10_HUMAN	L	1501	ENSP00000386770:P1501L	ENSP00000386770:P1501L	P	+	2	0	DNAH10	122885982	1.000000	0.71417	0.745000	0.31077	0.114000	0.19823	5.784000	0.68990	2.857000	0.98124	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	18	79	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999908e-01	18	79	0	15	2								-12.952600	1	1	120768	9	37	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999889	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124332579	124332579	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124332579C>T	ENST00000409039.3	+	32	5557	c.5532C>T	c.(5530-5532)gaC>gaT	p.D1844D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CCACCAAGGACCTGGCGAAAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000409039.3	1	1	hg19	CCDS9255.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	0	148	621	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1	145	609	0	129	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124335466	124335466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124335466G>A	ENST00000409039.3	+	34	5805	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CTGGACTCCCGCATGGGCATC	0.622000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950710	0.73787	0.0	1.17E-4	ENSG00000197653	ENST00000409039	T	0.39787	1.06	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.285831	0.29389	U	0.012288	T	0.49508	0.1561	N	0.14661	0.345	0.53688	D	0.99997	D	0.76494	0.999	D	0.68765	0.96	T	0.55872	-0.8072	10	0.56958	D	0.05	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1927	Q8IVF4	DYH10_HUMAN	H	1927	ENSP00000386770:R1927H	ENSP00000386770:R1927H	R	+	2	0	DNAH10	122901419	0.941000	0.31946	0.023000	0.16930	0.607000	0.37147	4.168000	0.58216	2.576000	0.86940	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	68	286	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	67	285	0	55	2								-3.221587	1	1	121222	5	40	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124359997	124359997	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124359997C>A	ENST00000409039.3	+	46	7829	c.7804C>A	c.(7804-7806)Ctg>Atg	p.L2602M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				AGAGGAGTCTCTGCATTTAAT	0.448000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516031	0.64634	.	.	ENSG00000197653	ENST00000409039	T	0.52754	0.65	5.41	-5.07	0.02938	.	0.000000	0.56097	U	0.000029	T	0.63438	0.2511	M	0.71036	2.16	0.40633	D	0.981872	D	0.89917	1.0	D	0.87578	0.998	T	0.67325	-0.5699	10	0.29301	T	0.29	.	20.508	0.99210	0.0:0.8064:0.0:0.1936	.	2602	Q8IVF4	DYH10_HUMAN	M	2602	ENSP00000386770:L2602M	ENSP00000386770:L2602M	L	+	1	2	DNAH10	122925950	0.003000	0.15002	0.361000	0.25849	0.946000	0.59487	0.056000	0.14256	-1.066000	0.03164	-0.484000	0.04775	CTG		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	65	268	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	65	263	0	82	2								-3.265466	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124383316	124383316	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124383316G>A	ENST00000409039.3	+	55	9266	c.9241G>A	c.(9241-9243)Gcc>Acc	p.A3081T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GAAGTCCGCCGCCTGCGAGGC	0.647000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164423	0.57476	.	.	ENSG00000197653	ENST00000409039	T	0.74421	-0.84	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.064020	0.64402	D	0.000006	D	0.85656	0.5747	M	0.89785	3.06	0.54753	D	0.99998	D	0.65815	0.995	P	0.55667	0.781	D	0.87201	0.2241	10	0.37606	T	0.19	.	17.4778	0.87664	0.0:0.0:1.0:0.0	.	3081	Q8IVF4	DYH10_HUMAN	T	3081	ENSP00000386770:A3081T	ENSP00000386770:A3081T	A	+	1	0	DNAH10	122949269	1.000000	0.71417	0.934000	0.37439	0.142000	0.21351	7.803000	0.85983	2.350000	0.79820	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	29	104	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	1	29	103	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124397810	124397810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124397810C>T	ENST00000409039.3	+	59	9971	c.9946C>T	c.(9946-9948)Cgg>Tgg	p.R3316W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CATGGAGAGGCGGCTGATTGC	0.537000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	20.8	4.055986	0.76074	5.24E-4	0.0	ENSG00000197653	ENST00000409039	T	0.74526	-0.85	5.43	2.43	0.29744	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	H	0.95917	3.74	0.49130	D	0.999759	D	0.76494	0.999	D	0.68483	0.958	D	0.90043	0.4143	10	0.87932	D	0	.	14.6521	0.68805	0.5145:0.4855:0.0:0.0	.	3316	Q8IVF4	DYH10_HUMAN	W	3316	ENSP00000386770:R3316W	ENSP00000386770:R3316W	R	+	1	2	DNAH10	122963763	0.287000	0.24315	0.572000	0.28498	0.974000	0.67602	0.831000	0.27476	0.193000	0.20303	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	1	13	56	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.996817e-01	13	55	0	21	2								-19.999950	1	1	120628	17	40	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999432	0.990000	1	9.900000e-01	1
CCDC92	80212	broad.mit.edu	37	12	124421736	124421736	+	Missense_Mutation	SNP	C	C	T	rs34103982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124421736C>T	ENST00000238156.3	-	5	1219	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Missense_Mutation_p.V272I	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92			7	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GCCACCCCGACGTGGGCCTTG	0.697000																								0							SO:0001583	missense			ENST00000238156.3	1	1	hg19	CCDS9256.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	12.24	1.877744	0.33162	0.00318	0.0	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.26067	1.76;1.8;1.8	5.43	4.53	0.55603	.	0.197295	0.44097	N	0.000489	T	0.10035	0.0246	N	0.12746	0.255	0.38912	D	0.957564	B	0.21821	0.061	B	0.17098	0.017	T	0.08493	-1.0719	10	0.37606	T	0.19	-16.8421	9.9182	0.41448	0.0:0.7836:0.0:0.2164	rs34103982	289	Q53HC0	CCD92_HUMAN	I	289;272;272	ENSP00000238156:V289I;ENSP00000439526:V272I;ENSP00000440024:V272I	ENSP00000238156:V289I	V	-	1	0	CCDC92	122987689	0.993000	0.37304	0.990000	0.47175	0.309000	0.27889	0.366000	0.20365	1.261000	0.44149	0.505000	0.49811	GTC		TCGA-IB-7651-01A-11D-2154-08	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	1	0	0	34	269	0	40	1	9.982135e-01	8	71	0	40	2		0	0	0	0	0	2	1	1	34	264	0	39	2								-7.543618	1	1	120796	44	46	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.950000	1.000000	1.000000	0.997138	0.990000	1	9.900000e-01	1
CCDC92	80212	broad.mit.edu	37	12	124422143	124422143	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124422143C>A	ENST00000238156.3	-	5	812	c.458G>T	c.(457-459)aGc>aTc	p.S153I	DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Missense_Mutation_p.S136I	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92			7	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GGCGATGGTGCTGGCCCGCTG	0.622000																								0							SO:0001583	missense			ENST00000238156.3	1	1	hg19	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.816209	0.50527	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.25414	1.8;1.82;1.82	5.56	2.74	0.32292	.	0.466412	0.27323	N	0.019897	T	0.24509	0.0594	M	0.72479	2.2	0.40073	D	0.976031	P	0.36909	0.573	B	0.32289	0.143	T	0.03597	-1.1021	10	0.44086	T	0.13	-3.2303	8.999	0.36069	0.0:0.7439:0.1223:0.1337	.	153	Q53HC0	CCD92_HUMAN	I	153;136;136	ENSP00000238156:S153I;ENSP00000439526:S136I;ENSP00000440024:S136I	ENSP00000238156:S153I	S	-	2	0	CCDC92	122988096	1.000000	0.71417	0.820000	0.32676	0.100000	0.18952	4.971000	0.63749	0.305000	0.22832	-0.226000	0.12346	AGC		TCGA-IB-7651-01A-11D-2154-08	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	0	0	1	142	571	0	109	1	1	24	131	0	109	2		0	0	0	0	0	2	1	1	141	566	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC92	80212	broad.mit.edu	37	12	124428028	124428028	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124428028A>G	ENST00000238156.3	-	3	401	c.47T>C	c.(46-48)gTc>gCc	p.V16A	CCDC92_ENST00000545891.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92			7	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TGCCATGCTGACATCCAGAGG	0.632000																								0							SO:0001583	missense			ENST00000238156.3	0	1	hg19	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428672	0.43122	.	.	ENSG00000119242	ENST00000238156;ENST00000539761;ENST00000539551	T;T;T	0.55234	1.64;0.55;0.53	5.77	4.62	0.57501	.	0.165377	0.53938	N	0.000044	T	0.39733	0.1089	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17531	-1.0366	10	0.31617	T	0.26	-6.7798	8.4781	0.33025	0.7971:0.0:0.2029:0.0	.	16	Q53HC0	CCD92_HUMAN	A	16	ENSP00000238156:V16A;ENSP00000439441:V16A;ENSP00000442369:V16A	ENSP00000238156:V16A	V	-	2	0	CCDC92	122993981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.875000	0.39578	1.006000	0.39211	0.459000	0.35465	GTC		TCGA-IB-7651-01A-11D-2154-08	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	0	0	0	15	648	0	134	0	6.842605e-01	1	101	0	134	2		0	0	0	0	0	2	1	9.998441e-01	15	632	0	132	2								-11.982560	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.280000	0.150000	1.000000	0.270000	0.347383	0.280000	0	2.100000e-01	3.900000e-01
ZNF664	144348	broad.mit.edu	37	12	124497096	124497096	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124497096A>T	ENST00000539644.1	+	6	2235	c.405A>T	c.(403-405)agA>agT	p.R135S	ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664			13	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TGCATCAGAGAGTCCACACCG	0.468000																								0							SO:0001583	missense			ENST00000539644.1	1	1	hg19	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692233	0.68271	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.25	-0.735	0.11137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39615	N	0.001310	T	0.32941	0.0846	L	0.58428	1.81	0.32323	N	0.56211	D	0.71674	0.998	D	0.65323	0.934	T	0.42189	-0.9466	10	0.87932	D	0	-30.8672	0.788	0.01052	0.358:0.1751:0.297:0.1699	.	135	Q8N3J9	ZN664_HUMAN	S	135;135;135;135;73	ENSP00000441405:R135S;ENSP00000376205:R135S;ENSP00000440645:R135S;ENSP00000337320:R135S	ENSP00000337320:R135S	R	+	3	2	ZNF664	123063049	0.010000	0.17322	0.997000	0.53966	0.997000	0.91878	-0.127000	0.10547	-0.127000	0.11661	0.533000	0.62120	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	1	0	1	94	689	0	127	1	1	96	194	0	127	2		0	0	0	0	0	2	1	1	92	680	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
FAM101A	144347	broad.mit.edu	37	12	124796398	124796398	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124796398A>G	ENST00000389727.3	+	2	242	c.242A>G	c.(241-243)gAg>gGg	p.E81G	FAM101A_ENST00000338359.4_5'UTR|FAM101A_ENST00000546355.1_5'UTR|FAM101A_ENST00000324038.3_5'UTR			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A			3	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CCGGCGTCGGAGATGAGGCCC	0.652000																								0							SO:0001583	missense			ENST00000389727.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	7.962	0.747238	0.15710	.	.	ENSG00000178882	ENST00000389727	.	.	.	4.83	0.958	0.19619	.	0.167008	0.52532	U	0.000078	T	0.42131	0.1189	.	.	.	0.37423	D	0.913707	.	.	.	.	.	.	T	0.24048	-1.0171	6	0.22706	T	0.39	18.1017	5.1919	0.15214	0.5487:0.3547:0.0966:0.0	.	.	.	.	G	81	.	ENSP00000374377:E81G	E	+	2	0	FAM101A	123362351	1.000000	0.71417	0.228000	0.23943	0.019000	0.09904	4.229000	0.58625	-0.082000	0.12640	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	17	101	0	27	1	9.995528e-01	49	32	0	27	2		0	0	0	0	0	2	1	9.999678e-01	16	97	0	27	2								-10.847980	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998574	0.990000	1	9.900000e-01	1
FAM101A	144347	broad.mit.edu	37	12	124798899	124798899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798899G>A	ENST00000389727.3	+	3	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H|FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H|FAM101A_ENST00000324038.3_Missense_Mutation_p.R79H			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A			3	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CCACGCCCGCGCGCCCTGCGC	0.692000																								0							SO:0001583	missense			ENST00000389727.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.56	3.419266	0.62622	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.190246	0.47455	D	0.000233	T	0.68668	0.3026	M	0.66939	2.045	0.38343	D	0.944114	D	0.89917	1.0	D	0.71414	0.973	T	0.73799	-0.3869	9	0.87932	D	0	-1.3042	6.1345	0.20223	0.2454:0.0:0.7546:0.0	.	160	Q6ZTI6	F101A_HUMAN	H	79;160;79;79	.	ENSP00000315626:R79H	R	+	2	0	FAM101A	123364852	0.996000	0.38824	0.683000	0.30040	0.527000	0.34593	2.094000	0.41719	2.148000	0.66965	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	146	582	0	116	1	1	53	64	0	116	2		0	0	0	0	0	2	1	1	144	572	0	115	2								-20.000000	1	0	121232	2	36	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM101A	144347	broad.mit.edu	37	12	124798970	124798970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798970C>T	ENST00000389727.3	+	3	550	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y|FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000324038.3_Missense_Mutation_p.H103Y			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A			3	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GACCACCCTGCACTGCAGCCT	0.706000																								0							SO:0001583	missense			ENST00000389727.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.99	2.700828	0.48307	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	3.81	0.43845	.	0.461107	0.23924	N	0.043209	T	0.32194	0.0821	L	0.36672	1.1	0.30418	N	0.778351	P	0.40731	0.728	B	0.40825	0.341	T	0.34153	-0.9840	9	0.62326	D	0.03	-17.4896	6.5299	0.22322	0.309:0.5978:0.0:0.0931	.	184	Q6ZTI6	F101A_HUMAN	Y	103;184;103;103	.	ENSP00000315626:H103Y	H	+	1	0	FAM101A	123364923	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.132000	0.64758	0.966000	0.38159	0.561000	0.74099	CAC		TCGA-IB-7651-01A-11D-2154-08	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	85	317	0	67	1	9.998592e-01	22	28	0	67	2		0	0	0	0	0	2	1	1	83	316	0	67	2								-20.000000	1	0	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOR2	9612	broad.mit.edu	37	12	124826572	124826572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124826572G>A	ENST00000405201.1	-	34	4985	c.4985C>T	c.(4984-4986)cCg>cTg	p.P1662L	NCOR2_ENST00000356219.3_Missense_Mutation_p.P1669L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2			69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)				GTACAGGTGCGGGTAGGTGGG	0.652000																								0							SO:0001583	missense			ENST00000405201.1	1	1	hg19	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868059	0.72065	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.23	4.23	0.50019	.	0.065092	0.64402	D	0.000006	T	0.66416	0.2787	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.71823	-0.4476	10	0.87932	D	0	-22.6781	16.6063	0.84830	0.0:0.0:1.0:0.0	.	1652;1653;1662	C9J0Q5;C9J239;C9JFD3	.;.;.	L	1662;1652;1669;1653;1661;1223;1652	ENSP00000384018:P1662L;ENSP00000384202:P1652L;ENSP00000348551:P1669L;ENSP00000380513:P1653L;ENSP00000385618:P1223L;ENSP00000400281:P1652L	ENSP00000348551:P1669L	P	-	2	0	NCOR2	123392525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.737000	0.84957	1.895000	0.54865	0.491000	0.48974	CCG		TCGA-IB-7651-01A-11D-2154-08	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	1	37	282	0	43	1	1	36	338	0	43	2		0	0	0	0	0	2	1	1	36	271	0	42	2								-2.774744	1	1	120644	3	34	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998572	0.990000	1	9.900000e-01	1
NCOR2	9612	broad.mit.edu	37	12	124827723	124827723	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124827723C>T	ENST00000405201.1	-	33	4764	c.4764G>A	c.(4762-4764)acG>acA	p.T1588T	NCOR2_ENST00000356219.3_Silent_p.T1595T|NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000404621.1_Silent_p.T1578T|NCOR2_ENST00000397355.1_Silent_p.T1579T|NCOR2_ENST00000404121.2_Silent_p.T1149T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2			69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)				TCTCACGAGGCGTCGACGTCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000405201.1	1	1	hg19	CCDS41858.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	0	16	225	0	37	1	9.997789e-01	20	182	0	37	2		0	0	0	0	0	2	1	9.999126e-01	16	213	0	37	2								-19.542870	1	1	120932	4	32	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.810000	0.480000	1.000000	1.000000	0.813497	0.810000	0	6.300000e-01	1
MANSC1	54682	broad.mit.edu	37	12	12483765	12483765	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12483765G>A	ENST00000535902.1	-	4	1055	c.492C>T	c.(490-492)acC>acT	p.T164T	MANSC1_ENST00000545735.1_Silent_p.T83T|MANSC1_ENST00000396349.3_Silent_p.T130T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1			23		Prostate(47;0.0865)			ATGAGATATCGGTGGGCTTTG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000535902.1	0	1	hg19	CCDS8648.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	0	0	0	9	455	0	81	0	6.626788e-01	0	112	0	81	2		0	0	0	0	0	2	1	9.938418e-01	9	447	0	81	2								-2.659759	1	1	121412	30	46	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.240000	0.110000	1.000000	0.230000	0.299762	0.240000	0	1.700000e-01	3.600000e-01
NCOR2	9612	broad.mit.edu	37	12	124856630	124856630	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124856630G>A	ENST00000405201.1	-	20	2745	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	NCOR2_ENST00000356219.3_Silent_p.S915S|NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000404621.1_Silent_p.S897S|NCOR2_ENST00000397355.1_Silent_p.S898S|NCOR2_ENST00000404121.2_Silent_p.S468S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2			69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)				CACTGGAGTCGCTGTCCTGGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000405201.1	1	1	hg19	CCDS41858.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	0	82	334	0	60	1	1	36	105	0	60	2		0	0	0	0	0	2	1	1	81	327	0	60	2								-20.000000	1	0	120958	1	29	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOR2	9612	broad.mit.edu	37	12	124885145	124885145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885145G>A	ENST00000405201.1	-	15	1715	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V	NCOR2_ENST00000356219.3_Missense_Mutation_p.A572V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2			69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)				CTGGCTGTTGGCAGTTTTGCG	0.617000																								0							SO:0001583	missense			ENST00000405201.1	1	1	hg19	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506717	0.64410	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.994;0.994;0.997	T	0.60271	-0.7296	10	0.87932	D	0	-31.0363	18.5739	0.91147	0.0:0.0:1.0:0.0	.	571;572;572	C9J0Q5;C9J239;C9JFD3	.;.;.	V	572;571;572;572;572;142;571;572	ENSP00000384018:A572V;ENSP00000384202:A571V;ENSP00000348551:A572V;ENSP00000380513:A572V;ENSP00000385618:A142V;ENSP00000400281:A571V;ENSP00000402808:A572V	ENSP00000348551:A572V	A	-	2	0	NCOR2	123451098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.215000	0.95146	2.382000	0.81193	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	1	160	745	0	150	1	1	55	171	0	150	2		0	0	0	0	0	2	1	1	157	735	0	150	2								-20.000000	1	0	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOR2	9612	broad.mit.edu	37	12	124885186	124885186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885186G>A	ENST00000405201.1	-	15	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	NCOR2_ENST00000356219.3_Silent_p.N558N|NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000404621.1_Silent_p.N557N|NCOR2_ENST00000397355.1_Silent_p.N558N|NCOR2_ENST00000404121.2_Silent_p.N128N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2			69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)				CCTTCTCGTCGTTGTCCTCCC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000405201.1	1	1	hg19	CCDS41858.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	1	0	1	128	672	0	130	1	1	37	113	0	130	2		0	0	0	0	0	2	1	1	127	664	0	128	2								-20.000000	1	0	120884	4	40	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MANSC1	54682	broad.mit.edu	37	12	12496182	12496182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12496182G>T	ENST00000535902.1	-	2	630	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	MANSC1_ENST00000396349.3_Intron			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1			23		Prostate(47;0.0865)			CTAGCAGACAGCCTTAGTGTC	0.403000																								0							SO:0001583	missense			ENST00000535902.1	1	1	hg19	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660531	0.29515	.	.	ENSG00000111261	ENST00000535902;ENST00000543314	T;T	0.49139	2.2;0.79	5.33	4.43	0.53597	.	0.762541	0.10293	N	0.692124	T	0.49983	0.1589	L	0.29908	0.895	0.09310	N	0.999992	D	0.64830	0.994	P	0.57371	0.819	T	0.33292	-0.9874	10	0.54805	T	0.06	0.5003	8.0655	0.30659	0.0867:0.1588:0.7545:0.0	.	23	Q9H8J5	MANS1_HUMAN	M	23	ENSP00000438205:L23M;ENSP00000437624:L23M	ENSP00000438205:L23M	L	-	1	2	MANSC1	12387449	0.026000	0.19158	0.056000	0.19401	0.210000	0.24377	1.945000	0.40273	1.198000	0.43158	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	1	0	1	64	333	0	73	1	9.996834e-01	13	51	0	73	2		0	0	0	0	0	2	1	1	64	325	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERC1	23085	broad.mit.edu	37	12	1250905	1250905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1250905G>T	ENST00000397203.2	+	8	2095	c.1689G>T	c.(1687-1689)aaG>aaT	p.K563N	ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1			38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		ATGACCTCAAGGACATGTTGG	0.428000																								0							SO:0001583	missense			ENST00000397203.2	1	1	hg19	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231119	0.58777	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.08;0.69;0.69;0.69;-1.08;-1.08;0.69	5.65	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.58428	1.81	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.997;0.963;1.0	D	0.84186	0.0442	10	0.37606	T	0.19	-29.5886	14.3623	0.66782	0.0708:0.0:0.9292:0.0	.	311;203;535;535;563	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	N	535;563;535;535;263;535;535;263;563;563;563;535;311;203	ENSP00000340054:K535N;ENSP00000380386:K563N;ENSP00000438546:K535N;ENSP00000442976:K263N;ENSP00000442739:K563N;ENSP00000347621:K563N;ENSP00000354158:K563N;ENSP00000410064:K535N	ENSP00000299183:K263N	K	+	3	2	ERC1	1121166	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.356000	0.44116	1.380000	0.46344	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1	35	177	0	42	1	9.989091e-01	10	46	0	42	2		0	0	0	0	0	2	1	1	34	168	0	42	2								-3.126443	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
SCARB1	949	broad.mit.edu	37	12	125302125	125302125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125302125C>A	ENST00000415380.2	-	2	380	c.255G>T	c.(253-255)caG>caT	p.Q85H	SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000339570.5_Missense_Mutation_p.Q85H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1			17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Phosphatidylserine(DB00144)	GCTCCCGCACCTGCGGCTTCT	0.622000																								0							SO:0001583	missense			ENST00000415380.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	7.826	0.718797	0.15372	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.44	-1.23	0.09465	.	0.865179	0.10224	N	0.700512	T	0.60038	0.2238	L	0.45228	1.405	0.20307	N	0.999919	P;P;P;P;P;P	0.41597	0.635;0.756;0.635;0.635;0.537;0.712	P;P;P;P;B;P	0.45681	0.49;0.49;0.468;0.468;0.358;0.456	T	0.51140	-0.8743	10	0.30854	T	0.27	-6.4271	2.2086	0.03942	0.1203:0.4056:0.1176:0.3566	.	44;85;85;85;85;85	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	H	85;85;85;85;44;31;48;85	ENSP00000343795:Q85H;ENSP00000414979:Q85H;ENSP00000261693:Q85H;ENSP00000442862:Q85H;ENSP00000446107:Q44H;ENSP00000444851:Q31H;ENSP00000443286:Q48H;ENSP00000443454:Q85H	ENSP00000261693:Q85H	Q	-	3	2	SCARB1	123868078	0.067000	0.21026	0.604000	0.28916	0.248000	0.25809	0.469000	0.22067	0.270000	0.21984	-0.266000	0.10368	CAG		TCGA-IB-7651-01A-11D-2154-08	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	1	0	1	71	268	0	55	1	9.999779e-01	19	43	0	55	2		0	0	0	0	0	2	1	1	70	261	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBC	7316	broad.mit.edu	37	12	125397088	125397088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125397088G>A	ENST00000536769.1	-	1	2806	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.I410I|UBC_ENST00000546120.1_Silent_p.I334I			P0CG48	UBC_HUMAN	ubiquitin C			36	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CCTTGTCTTGGATCTTTGCCT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000536769.1	1	1	hg19	CCDS9260.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	0	0	0	68	845	0	208	0	3.111203e-02	0	4	0	208	2		0	0	0	0	0	2	1	1	34	429	0	290	2								-13.769580	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.890000	0.690000	1.000000	1.000000	0.892820	0.890000	1	7.800000e-01	1
DHX37	57647	broad.mit.edu	37	12	125432718	125432718	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125432718G>A	ENST00000308736.2	-	26	3398	c.3300C>T	c.(3298-3300)ccC>ccT	p.P1100P	DHX37_ENST00000544745.1_Silent_p.P887P	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37			65	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TCTCCGTACGGGGCTGCAGCC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000308736.2	1	1	hg19	CCDS9261.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	25	172	0	37	1	9.987102e-01	22	53	0	37	2		0	0	0	0	0	2	1	9.999999e-01	25	168	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998555	0.990000	1	9.900000e-01	1
DHX37	57647	broad.mit.edu	37	12	125434989	125434989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125434989G>A	ENST00000308736.2	-	23	3189	c.3091C>T	c.(3091-3093)Cgg>Tgg	p.R1031W	DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37			65	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CACAGCACCCGCCCCCGCTCG	0.657000																								0							SO:0001583	missense			ENST00000308736.2	1	1	hg19	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866819	0.51588	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03413	4.01;3.94	5.07	5.07	0.68467	.	0.149951	0.53938	D	0.000059	T	0.17789	0.0427	M	0.85299	2.745	0.47245	D	0.999366	D;D	0.71674	0.998;0.998	P;P	0.56916	0.809;0.623	T	0.01367	-1.1373	10	0.51188	T	0.08	12.7338	18.4511	0.90704	0.0:0.0:1.0:0.0	.	818;1031	F5H3Y4;Q8IY37	.;DHX37_HUMAN	W	1031;818	ENSP00000311135:R1031W;ENSP00000439009:R818W	ENSP00000311135:R1031W	R	-	1	2	DHX37	124000942	1.000000	0.71417	0.533000	0.28001	0.017000	0.09413	1.670000	0.37502	2.360000	0.80028	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	23	125	0	25	1	9.962429e-01	15	37	0	25	2		0	0	0	0	0	2	1	9.999996e-01	23	122	0	24	2								-20.000000	1	1	121224	1	29	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999825	0.990000	1	9.900000e-01	1
DHX37	57647	broad.mit.edu	37	12	125437016	125437016	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125437016G>A	ENST00000308736.2	-	21	2894	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	DHX37_ENST00000544745.1_Silent_p.G719G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37			65	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GGTCCCCCAGGCCTGCCGTCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000308736.2	1	1	hg19	CCDS9261.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	23	151	0	39	1	9.948067e-01	20	38	0	39	2		0	0	0	0	0	2	1	9.999995e-01	22	149	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998816	0.990000	1	9.900000e-01	1
AACS	65985	broad.mit.edu	37	12	125576018	125576018	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125576018G>A	ENST00000316519.6	+	5	725	c.519G>A	c.(517-519)gcG>gcA	p.A173A	AACS_ENST00000261686.6_Silent_p.A173A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase			26	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TGCTGGCTGCGGCAAGCATTG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000316519.6	1	1	hg19	CCDS9263.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	1	0	1	61	246	0	60	1	9.981392e-01	12	29	0	60	2		0	0	0	0	0	2	1	1	61	243	0	60	2								-3.107953	1	1	121412	1	31	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM132B	114795	broad.mit.edu	37	12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B			107	all_neural(191;0.101)|Medulloblastoma(191;0.163)				AGGGGACACGGCCACCTTTTT	0.532000																								0							SO:0001583	missense			ENST00000299308.3	1	1	hg19	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417556	0.62622	.	.	ENSG00000139364	ENST00000299308	T	0.11930	2.73	5.34	4.45	0.53987	.	.	.	.	.	T	0.14787	0.0357	L	0.50333	1.59	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02588	-1.1137	9	0.35671	T	0.21	.	13.9468	0.64089	0.0728:0.0:0.9272:0.0	.	297	Q14DG7	T132B_HUMAN	T	297	ENSP00000299308:A297T	ENSP00000299308:A297T	A	+	1	0	TMEM132B	124400787	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	5.483000	0.66838	1.250000	0.43966	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	1	0	1	203	870	0	229	0	3.615458e-02	0	2	0	229	2		0	0	0	0	0	2	1	1	202	856	0	226	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM132B	114795	broad.mit.edu	37	12	126128621	126128621	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128621G>T	ENST00000299308.3	+	6	1430		c.e6-1		TMEM132B_ENST00000535886.1_Splice_Site	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B			107	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CCTTCCCAAAGGTTTCCAACA	0.428000																								0							SO:0001630	splice_region_variant			ENST00000299308.3	0	1	hg19	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856831	0.32791	.	.	ENSG00000139364	ENST00000299308	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132B	124694574	1.000000	0.71417	0.994000	0.49952	0.026000	0.11368	9.552000	0.98115	2.578000	0.87016	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	1	0	0	30	180	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	29	177	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999865	0.990000	1	9.900000e-01	1
TMEM132B	114795	broad.mit.edu	37	12	126138750	126138750	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126138750G>T	ENST00000299308.3	+	9	2739	c.2731G>T	c.(2731-2733)Gcc>Tcc	p.A911S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B			107	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CTTCTGTCTGGCCATTCTGGT	0.527000																								0							SO:0001583	missense			ENST00000299308.3	1	1	hg19	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282492	0.80692	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.23348	1.91;1.91	5.43	5.43	0.79202	.	0.093223	0.47093	N	0.000257	T	0.55862	0.1947	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.60895	-0.7172	10	0.87932	D	0	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	911	Q14DG7	T132B_HUMAN	S	911;423	ENSP00000299308:A911S;ENSP00000440436:A423S	ENSP00000299308:A911S	A	+	1	0	TMEM132B	124704703	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.576000	0.98192	2.543000	0.85770	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	1	0	1	71	443	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	69	439	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DUSP16	80824	broad.mit.edu	37	12	12630240	12630240	+	Missense_Mutation	SNP	C	C	T	rs149400013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12630240C>T	ENST00000228862.2	-	7	2156	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	p.V509M(1)		26		Prostate(47;0.0687)			TTGTCCTCCACGCTCCCACTT	0.587000													Ovarian(158;443 1896 15437 36069 46477)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000228862.2	1	1	hg19	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789841	0.16258	2.27E-4	1.16E-4	ENSG00000111266	ENST00000228862	T	0.01963	4.53	5.21	4.32	0.51571	.	0.462115	0.19659	N	0.109008	T	0.01661	0.0053	L	0.31065	0.9	0.80722	D	1	P;P	0.36315	0.487;0.547	B;B	0.18263	0.015;0.021	T	0.64711	-0.6343	10	0.37606	T	0.19	.	8.5603	0.33507	0.0:0.7711:0.0:0.2289	.	509;509	Q9BY84;Q96N49	DUS16_HUMAN;.	M	509	ENSP00000228862:V509M	ENSP00000228862:V509M	V	-	1	0	DUSP16	12521507	0.380000	0.25131	0.982000	0.44146	0.714000	0.41099	0.323000	0.19593	1.423000	0.47198	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	1	0	1	78	388	0	73	1	9.999990e-01	9	91	0	73	2		0	0	0	0	0	2	1	1	77	373	0	72	2								-20.000000	1	1	121412	25	45	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR19	2842	broad.mit.edu	37	12	12815366	12815366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12815366C>A	ENST00000540510.1	-	2	209	c.17G>T	c.(16-18)aGa>aTa	p.R6I	GPR19_ENST00000332427.2_Missense_Mutation_p.R6I			P46093	GPR4_HUMAN	G protein-coupled receptor 19			17		Prostate(47;0.0802)			GTTATCCATTCTGTGAGCAAA	0.428000																								0							SO:0001583	missense			ENST00000540510.1	1	1	hg19	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041348	0.19669	.	.	ENSG00000183150	ENST00000540510;ENST00000332427;ENST00000540796	T;T	0.68624	-0.34;-0.34	5.43	2.44	0.29823	.	0.304358	0.28853	N	0.013925	T	0.45458	0.1343	N	0.14661	0.345	0.41650	D	0.989128	B	0.23735	0.09	B	0.15484	0.013	T	0.40850	-0.9541	10	0.54805	T	0.06	-12.887	9.0393	0.36307	0.0:0.6096:0.2469:0.1435	.	6	Q15760	GPR19_HUMAN	I	6	ENSP00000441832:R6I;ENSP00000333744:R6I	ENSP00000333744:R6I	R	-	2	0	GPR19	12706633	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.121000	0.31283	0.828000	0.34709	-0.150000	0.13652	AGA		TCGA-IB-7651-01A-11D-2154-08	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	1	0	1	89	461	0	97	0	7.157879e-02	0	3	0	97	2		0	0	0	0	0	2	1	1	86	453	0	97	2								-3.081093	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERC1	23085	broad.mit.edu	37	12	1291225	1291225	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1291225G>A	ENST00000397203.2	+	10	2416	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000360905.4_Silent_p.E670E|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000355446.5_Silent_p.E670E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1			38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		ACCTTTCAGAGAAAGAGGTTA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000397203.2	1	1	hg19	CCDS8508.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	1	14	152	0	38	1	9.103321e-01	14	34	0	38	2		0	0	0	0	0	2	1	9.997581e-01	14	148	0	38	2								-19.352130	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.950000	0.550000	1.000000	1.000000	0.892193	0.950000	1	7.300000e-01	1
SLC15A4	121260	broad.mit.edu	37	12	129299465	129299465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129299465C>T	ENST00000266771.5	-	2	736	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4			22	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GCAAGGCCGACGCAGACAGTG	0.517000																								0							SO:0001583	missense			ENST00000266771.5	1	1	hg19	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	5.065	0.197674	0.09652	.	.	ENSG00000139370	ENST00000266771	T	0.04156	3.69	5.7	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);	0.219518	0.47093	N	0.000258	T	0.01592	0.0051	N	0.01250	-0.93	0.80722	D	1	B	0.21606	0.058	B	0.18263	0.021	T	0.54248	-0.8322	10	0.21540	T	0.41	.	6.7249	0.23350	0.0:0.27:0.0:0.73	.	233	Q8N697	S15A4_HUMAN	I	233	ENSP00000266771:V233I	ENSP00000266771:V233I	V	-	1	0	SLC15A4	127865418	1.000000	0.71417	0.438000	0.26821	0.203000	0.24098	1.962000	0.40442	0.232000	0.21100	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	1	0	1	112	510	0	133	1	1	121	158	0	133	2		0	0	0	0	0	2	1	1	110	503	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLT1D1	144423	broad.mit.edu	37	12	129360481	129360481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129360481C>T	ENST00000442111.2	+	2	179	c.91C>T	c.(91-93)Cac>Tac	p.H31Y	GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1			26	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GGCTGCAGGGCACGTGTGCGT	0.463000																								0							SO:0001583	missense			ENST00000442111.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.16	3.319101	0.60524	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.49720	0.77;0.77;0.8	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.987;0.994	T	0.71424	-0.4597	10	0.51188	T	0.08	-28.2328	17.2721	0.87105	0.0:1.0:0.0:0.0	.	20;31	F5H088;Q96MS3-2	.;.	Y	31;31;20	ENSP00000394692:H31Y;ENSP00000281703:H31Y;ENSP00000438158:H20Y	ENSP00000281703:H31Y	H	+	1	0	GLT1D1	127926434	0.983000	0.35010	0.236000	0.24074	0.492000	0.33523	4.528000	0.60580	2.583000	0.87209	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	1	0	1	132	645	0	137	0	0	0	1	0	137	2		0	0	0	0	0	2	1	1	125	629	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM132D	121256	broad.mit.edu	37	12	129566325	129566325	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129566325C>T	ENST00000422113.2	-	7	2228	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	TMEM132D_ENST00000389441.4_Silent_p.E172E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D			152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)			TCATCCCAAGCTCCTGCCCCA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000422113.2	1	1	hg19	CCDS9266.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	1	61	252	0	42	0	1.018768e-01	0	3	0	42	2		0	0	0	0	0	2	1	1	58	239	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX47	51202	broad.mit.edu	37	12	12974144	12974144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974144C>T	ENST00000358007.3	+	3	206	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	DDX47_ENST00000352940.4_Missense_Mutation_p.R62C|DDX47_ENST00000392155.2_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47			16		Prostate(47;0.0526)			TCTTTTAGGTCGTGATATCAT	0.448000																								0							SO:0001583	missense			ENST00000358007.3	1	1	hg19	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821218	0.71028	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.16743	2.32;2.32	5.6	4.69	0.59074	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.062472	0.64402	D	0.000009	T	0.41858	0.1177	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;P	0.72338	0.977;0.977;0.911;0.887	T	0.41448	-0.9508	10	0.87932	D	0	-5.6338	14.3519	0.66708	0.2828:0.7172:0.0:0.0	.	62;62;62;62	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	C	62	ENSP00000319578:R62C;ENSP00000350698:R62C	ENSP00000319578:R62C	R	+	1	0	DDX47	12865411	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.246000	0.51414	1.327000	0.45338	0.555000	0.69702	CGT		TCGA-IB-7651-01A-11D-2154-08	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	1	0	1	78	402	0	89	1	1	33	135	0	89	2		0	0	0	0	0	2	1	1	77	393	0	87	2								-2.929569	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX47	51202	broad.mit.edu	37	12	12974954	12974954	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974954A>C	ENST00000358007.3	+	5	520	c.498A>C	c.(496-498)agA>agC	p.R166S	DDX47_ENST00000352940.4_Missense_Mutation_p.R166S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47			16		Prostate(47;0.0526)			TCAACTTGAGAGCTCTCAAAT	0.428000																								0							SO:0001583	missense			ENST00000358007.3	1	1	hg19	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.205868	0.58234	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.12672	2.66;2.66;2.66	5.95	5.95	0.96441	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.04162	-0.26	0.58432	D	0.999999	B;B;B	0.27559	0.004;0.003;0.181	B;B;B	0.36335	0.02;0.012;0.222	T	0.12400	-1.0549	10	0.02654	T	1	-22.6156	16.4323	0.83853	1.0:0.0:0.0:0.0	.	166;166;166	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	S	166;166;103	ENSP00000319578:R166S;ENSP00000350698:R166S;ENSP00000444000:R103S	ENSP00000319578:R166S	R	+	3	2	DDX47	12866221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.358000	0.59442	2.281000	0.76405	0.528000	0.53228	AGA		TCGA-IB-7651-01A-11D-2154-08	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	1	0	1	53	276	0	52	1	1	33	135	0	52	2		0	0	0	0	0	2	1	1	52	272	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX47	51202	broad.mit.edu	37	12	12976838	12976838	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12976838C>A	ENST00000358007.3	+	8	807	c.785C>A	c.(784-786)gCt>gAt	p.A262D	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47			16		Prostate(47;0.0526)			AATGAATTGGCTGGAAACTCC	0.423000																								0							SO:0001583	missense			ENST00000358007.3	0	1	hg19	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743634	0.69418	.	.	ENSG00000213782	ENST00000358007	T	0.04603	3.59	5.53	5.53	0.82687	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.16266	0.395	0.80722	D	1	B;D	0.52996	0.019;0.957	B;P	0.50440	0.015;0.641	T	0.47983	-0.9074	10	0.35671	T	0.21	-16.6468	19.4703	0.94961	0.0:1.0:0.0:0.0	.	262;262	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	D	262	ENSP00000350698:A262D	ENSP00000350698:A262D	A	+	2	0	DDX47	12868105	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.578000	0.82498	2.600000	0.87896	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	0	0	0	15	715	1	118	0	7.815029e-02	5	153	1	118	7		0	0	0	0	0	2	0	2.367916e-01	15	708	1	117	20								-3.052017	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.250000	0.140000	1.000000	0.250000	0.305026	0.250000	0	1.900000e-01	3.400000e-01
TMEM132D	121256	broad.mit.edu	37	12	130185005	130185005	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185005C>T	ENST00000422113.2	-	2	644	c.318G>A	c.(316-318)gtG>gtA	p.V106V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D			152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)			AATCCTGGGGCACCACTTGCT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000422113.2	1	1	hg19	CCDS9266.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	1	49	243	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	49	236	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM132D	121256	broad.mit.edu	37	12	130185134	130185134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185134C>A	ENST00000422113.2	-	2	515	c.189G>T	c.(187-189)aaG>aaT	p.K63N	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D			152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)			GGTTGGCCTCCTTCAGGAAGA	0.552000																								0							SO:0001583	missense			ENST00000422113.2	1	1	hg19	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594132	0.66219	.	.	ENSG00000151952	ENST00000422113	T	0.12879	2.64	5.33	2.5	0.30297	.	0.000000	0.64402	D	0.000007	T	0.35970	0.0950	M	0.85373	2.75	0.37480	D	0.915953	D	0.71674	0.998	D	0.69142	0.962	T	0.44802	-0.9304	9	.	.	.	-41.0956	10.0937	0.42462	0.0:0.738:0.0:0.262	.	63	Q14C87	T132D_HUMAN	N	63	ENSP00000408581:K63N	.	K	-	3	2	TMEM132D	128751087	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.629000	0.24538	1.239000	0.43787	0.555000	0.69702	AAG		TCGA-IB-7651-01A-11D-2154-08	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	1	46	189	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	46	182	0	52	2								-3.490353	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD10	11211	broad.mit.edu	37	12	130647687	130647687	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130647687A>G	ENST00000229030.4	+	1	684	c.200A>G	c.(199-201)cAg>cGg	p.Q67R	FZD10_ENST00000539839.1_Silent_p.P34P|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10			35	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GCAGCCATCCAGTTGCACGAG	0.627000																								0							SO:0001583	missense			ENST00000229030.4	1	1	hg19	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220771	0.39201	.	.	ENSG00000111432	ENST00000229030	T	0.75938	-0.98	4.4	4.4	0.53042	Frizzled domain (5);	0.068546	0.64402	U	0.000019	T	0.64023	0.2561	L	0.31526	0.94	0.52099	D	0.999948	B	0.11235	0.004	B	0.16289	0.015	T	0.62134	-0.6918	10	0.52906	T	0.07	.	13.6359	0.62223	1.0:0.0:0.0:0.0	.	67	Q9ULW2	FZD10_HUMAN	R	67	ENSP00000229030:Q67R	ENSP00000229030:Q67R	Q	+	2	0	FZD10	129213640	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	6.993000	0.76245	1.613000	0.50231	0.459000	0.35465	CAG		TCGA-IB-7651-01A-11D-2154-08	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	84	286	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	82	279	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD10	11211	broad.mit.edu	37	12	130648444	130648444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130648444C>T	ENST00000229030.4	+	1	1441	c.957C>T	c.(955-957)ttC>ttT	p.F319F	FZD10_ENST00000539839.1_Missense_Mutation_p.R287W|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	p.F319F(1)		35	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TCTACTACTTCGGCATGGCCA	0.647000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000229030.4	1	1	hg19	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081154	0.20309	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	0.604	0.17547	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65084	-0.6254	5	0.87932	D	0	.	9.8296	0.40932	0.0:0.53:0.0:0.47	.	.	.	.	W	287	.	ENSP00000438460:R287W	R	+	1	2	FZD10	129214397	0.978000	0.34361	1.000000	0.80357	0.984000	0.73092	0.155000	0.16362	0.187000	0.20147	-0.254000	0.11334	CGG		TCGA-IB-7651-01A-11D-2154-08	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	14	328	0	50	0	2.022245e-03	0	2	0	50	2		0	0	0	0	0	2	1	9.997541e-01	14	325	0	50	2								-3.265789	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.510000	0.280000	1.000000	0.480000	0.554238	0.510000	0	3.800000e-01	7.000000e-01
RIMBP2	23504	broad.mit.edu	37	12	130898738	130898738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130898738G>A	ENST00000261655.4	-	14	2747	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2			96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)			GACATGGTGAGCGGGTCGTAG	0.572000																								0							SO:0001583	missense			ENST00000261655.4	1	1	hg19	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654843	0.67472	.	.	ENSG00000060709	ENST00000261655	T	0.30448	1.53	4.37	4.37	0.52481	Src homology-3 domain (3);Variant SH3 (1);	0.156920	0.44285	D	0.000471	T	0.30386	0.0763	L	0.31476	0.935	0.80722	D	1	P	0.49307	0.922	P	0.52554	0.702	T	0.01982	-1.1235	10	0.14252	T	0.57	-30.3853	12.4072	0.55447	0.0:0.0:0.8317:0.1683	.	862	O15034	RIMB2_HUMAN	F	862	ENSP00000261655:L862F	ENSP00000261655:L862F	L	-	1	0	RIMBP2	129464691	0.997000	0.39634	0.899000	0.35326	0.990000	0.78478	2.452000	0.44961	2.117000	0.64856	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	1	0	1	102	498	0	91	0	2.053406e-01	0	5	0	91	2		0	0	0	0	0	2	1	1	100	491	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIMBP2	23504	broad.mit.edu	37	12	130921635	130921635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130921635C>A	ENST00000261655.4	-	10	1970	c.1807G>T	c.(1807-1809)Gca>Tca	p.A603S	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A511S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2			96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)			CCAGAACTTGCTAATGGCTTT	0.647000																								0							SO:0001583	missense			ENST00000261655.4	0	1	hg19	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564943	0.13498	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.29655	1.56;1.56;1.56	4.63	2.6	0.31112	.	0.734998	0.13089	N	0.414720	T	0.29716	0.0742	M	0.76838	2.35	0.31546	N	0.659379	P;B;B	0.41393	0.748;0.383;0.008	B;B;B	0.38842	0.283;0.178;0.005	T	0.29822	-0.9999	10	0.22109	T	0.4	-4.4196	4.581	0.12259	0.1513:0.6093:0.1467:0.0928	.	511;511;603	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	S	603;511;511;511	ENSP00000261655:A603S;ENSP00000440347:A511S;ENSP00000439159:A511S	ENSP00000261655:A603S	A	-	1	0	RIMBP2	129487588	0.997000	0.39634	0.435000	0.26784	0.059000	0.15707	0.524000	0.22940	0.298000	0.22638	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	0	0	0	5	117	0	14	0	2.709677e-03	0	2	0	14	2		0	0	0	0	0	2	1	9.375226e-01	5	116	0	14	2								-8.176106	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.540000	0.200000	1.000000	1.000000	0.588377	0.540000	0	3.400000e-01	8.900000e-01
GPRC5D	55507	broad.mit.edu	37	12	13102917	13102917	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13102917A>G	ENST00000228887.1	-	1	401	c.402T>C	c.(400-402)atT>atC	p.I134I	GPRC5D_ENST00000396333.3_Silent_p.I134I|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D			9		Prostate(47;0.183)			GACTGCAACCAATAGCAATGC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000228887.1	1	1	hg19	CCDS8658.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1	1	0	1	61	268	0	93	0	3.554399e-02	0	2	0	93	2		0	0	0	0	0	2	1	1	61	260	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR133	283383	broad.mit.edu	37	12	131466502	131466502	+	Missense_Mutation	SNP	G	G	T	rs138627746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131466502G>T	ENST00000261654.5	+	5	943	c.384G>T	c.(382-384)caG>caT	p.Q128H	GPR133_ENST00000535015.1_Missense_Mutation_p.Q160H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133			67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				ATGGGGGACAGGTCATCTCCA	0.512000																								0							SO:0001583	missense			ENST00000261654.5	1	1	hg19	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	8.347	0.830091	0.16749	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74106	-0.81;-0.81	4.13	3.21	0.36854	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.072165	0.56097	D	0.000026	T	0.69620	0.3131	M	0.77616	2.38	0.80722	D	1	P;B	0.35551	0.509;0.267	B;B	0.35470	0.203;0.127	T	0.73452	-0.3978	10	0.87932	D	0	.	4.6701	0.12685	0.3171:0.0:0.6829:0.0	.	160;128	B7ZLF7;Q6QNK2	.;GP133_HUMAN	H	128;160	ENSP00000261654:Q128H;ENSP00000444425:Q160H	ENSP00000261654:Q128H	Q	+	3	2	GPR133	130032455	1.000000	0.71417	0.969000	0.41365	0.116000	0.19942	0.698000	0.25571	1.996000	0.58369	0.558000	0.71614	CAG		TCGA-IB-7651-01A-11D-2154-08	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	1	0	1	96	398	0	99	0	9.983620e-01	0	42	0	99	2		0	0	0	0	0	2	1	1	93	397	0	98	2								-3.438979	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR133	283383	broad.mit.edu	37	12	131498749	131498749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131498749C>T	ENST00000261654.5	+	13	1896	c.1337C>T	c.(1336-1338)gCg>gTg	p.A446V	GPR133_ENST00000535015.1_Missense_Mutation_p.A478V|GPR133_ENST00000376682.4_Missense_Mutation_p.A132V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133			67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				CCAAGGATCGCGGAGGCCATG	0.587000																								0							SO:0001583	missense			ENST00000261654.5	1	1	hg19	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.980784	0.34942	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000545900;ENST00000376682	T;T;T	0.43688	0.95;0.94;0.95	4.43	3.52	0.40303	.	0.642937	0.15993	N	0.234703	T	0.32526	0.0832	L	0.53249	1.67	0.09310	N	0.999992	B;B	0.33120	0.342;0.398	B;B	0.19391	0.025;0.025	T	0.20538	-1.0272	10	0.44086	T	0.13	.	8.8773	0.35354	0.0:0.8878:0.0:0.1122	.	478;446	B7ZLF7;Q6QNK2	.;GP133_HUMAN	V	446;478;142;132	ENSP00000261654:A446V;ENSP00000444425:A478V;ENSP00000365872:A132V	ENSP00000261654:A446V	A	+	2	0	GPR133	130064702	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	1.699000	0.37804	2.183000	0.69458	0.645000	0.84053	GCG		TCGA-IB-7651-01A-11D-2154-08	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	1	0	1	54	302	0	78	1	9.995751e-01	2	65	0	78	2		0	0	0	0	0	2	1	1	54	296	0	76	2								-20.000000	1	1	121412	12	40	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GPR133	283383	broad.mit.edu	37	12	131561384	131561384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131561384C>T	ENST00000261654.5	+	14	2071	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	GPR133_ENST00000535015.1_Silent_p.N536N|GPR133_ENST00000376682.4_Silent_p.N190N|GPR133_ENST00000543617.1_Silent_p.N23N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133			67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				ACAGCAGCAACCGAGTCTTCG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000261654.5	1	1	hg19	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644332	0.03531	.	.	ENSG00000111452	ENST00000335486	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67921	-0.5545	4	.	.	.	.	13.4585	0.61212	0.0:1.0:0.0:0.0	.	.	.	.	I	26	.	.	T	+	2	0	GPR133	130127337	0.921000	0.31238	0.598000	0.28837	0.110000	0.19582	1.420000	0.34804	1.848000	0.53677	0.491000	0.48974	ACC		TCGA-IB-7651-01A-11D-2154-08	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	1	0	0	72	427	0	96	0	9.847189e-01	0	41	0	96	2		0	0	0	0	0	2	1	1	72	417	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1467	57613	broad.mit.edu	37	12	13208820	13208820	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13208820A>G	ENST00000197268.8	+	2	493	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467			36		Prostate(47;0.184)			TGCTTTCCTGATCCCCTGTCC	0.577000																								0							SO:0001583	missense			ENST00000197268.8	1	1	hg19	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	a	15.87	2.959419	0.53400	.	.	ENSG00000084444	ENST00000197268	T	0.21543	2.0	5.33	4.2	0.49525	Quinonprotein alcohol dehydrogenase-like (1);	0.120006	0.56097	D	0.000024	T	0.21631	0.0521	M	0.66939	2.045	0.34721	D	0.728697	P	0.38223	0.623	B	0.36186	0.219	T	0.30592	-0.9973	10	0.28530	T	0.3	-24.0397	10.5842	0.45273	0.9248:0.0:0.0752:0.0	.	125	A2RU67	K1467_HUMAN	V	125	ENSP00000197268:I125V	ENSP00000197268:I125V	I	+	1	0	KIAA1467	13100087	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.481000	0.60250	2.020000	0.59435	0.487000	0.48397	ATC		TCGA-IB-7651-01A-11D-2154-08	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	1	0	1	73	272	0	56	0	4.583594e-01	1	6	0	56	2		0	0	0	0	0	2	1	1	71	268	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1467	57613	broad.mit.edu	37	12	13232935	13232935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13232935C>T	ENST00000197268.8	+	12	1975	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	p.P619S(1)		36		Prostate(47;0.184)			TGTTGAAGCTCCCTACGAGGT	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000197268.8	0	1	hg19	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845378	0.32606	.	.	ENSG00000084444	ENST00000197268	.	.	.	5.43	3.45	0.39498	.	0.515087	0.20509	N	0.090937	T	0.35998	0.0951	L	0.29908	0.895	0.36344	D	0.859672	B	0.33940	0.433	B	0.33890	0.172	T	0.45600	-0.9250	9	0.52906	T	0.07	-14.8978	5.5861	0.17275	0.1414:0.644:0.1372:0.0775	.	619	A2RU67	K1467_HUMAN	S	619	.	ENSP00000197268:P619S	P	+	1	0	KIAA1467	13124202	1.000000	0.71417	0.995000	0.50966	0.431000	0.31685	1.421000	0.34815	2.540000	0.85666	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	1	0	0	12	113	0	21	1	5.642531e-02	2	2	0	21	2		0	0	0	0	0	2	1	9.990652e-01	12	108	0	21	2								-18.407370	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.640000	1.000000	1.000000	0.952697	0.990000	1	8.700000e-01	1
MMP17	4326	broad.mit.edu	37	12	132334409	132334409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132334409G>A	ENST00000360564.1	+	9	1369	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MMP17_ENST00000535291.1_Missense_Mutation_p.D339N|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)			5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			Marimastat(DB00786)	CCCCGTCTCCGACTTCAGCCT	0.602000																								0							SO:0001583	missense			ENST00000360564.1	1	1	hg19	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093522	0.94149	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	L	0.58583	1.82	0.80722	D	1	D	0.56746	0.977	P	0.48552	0.581	T	0.13442	-1.0509	10	0.66056	D	0.02	.	17.1756	0.86841	0.0:0.0:1.0:0.0	.	423	Q9ULZ9	MMP17_HUMAN	N	423;339;264;53	ENSP00000353767:D423N;ENSP00000441106:D339N;ENSP00000442104:D264N;ENSP00000439542:D53N	ENSP00000353767:D423N	D	+	1	0	MMP17	130900362	1.000000	0.71417	0.965000	0.40720	0.822000	0.46500	9.750000	0.98875	2.054000	0.61138	0.471000	0.43371	GAC		TCGA-IB-7651-01A-11D-2154-08	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	1	0	1	158	707	0	152	0	9.283777e-01	0	22	0	152	2		0	0	0	0	0	2	1	1	156	702	0	151	2								-20.000000	1	1	121412	7	43	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ULK1	8408	broad.mit.edu	37	12	132393284	132393284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132393284G>A	ENST00000321867.4	+	6	763	c.412G>A	c.(412-414)Gac>Aac	p.D138N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1			29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				CATCCACCGCGACCTGAAACC	0.672000																								0							SO:0001583	missense			ENST00000321867.4	1	1	hg19	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097301	0.97281	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	D;D;D	0.92965	-3.14;-3.14;-3.14	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97508	0.9184	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98391	1.0563	10	0.87932	D	0	-51.9126	19.4219	0.94725	0.0:0.0:1.0:0.0	.	138	O75385	ULK1_HUMAN	N	138;55;32	ENSP00000324560:D138N;ENSP00000438953:D55N;ENSP00000444983:D32N	ENSP00000324560:D138N	D	+	1	0	ULK1	130959237	1.000000	0.71417	0.948000	0.38648	0.992000	0.81027	9.832000	0.99423	2.593000	0.87608	0.455000	0.32223	GAC		TCGA-IB-7651-01A-11D-2154-08	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3	1	0	0	51	143	0	28	1	9.999977e-01	17	43	0	28	2		0	0	0	0	0	2	1	1	51	142	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ULK1	8408	broad.mit.edu	37	12	132394520	132394520	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132394520G>A	ENST00000321867.4	+	10	1133	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1			29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				CTACTGCAACGCAACCACAAG	0.687000																								0							SO:0001583	missense			ENST00000321867.4	1	1	hg19	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381883	0.82792	0.0	1.16E-4	ENSG00000177169	ENST00000321867;ENST00000537421	T;T	0.25250	1.81;1.81	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.46521	0.1397	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42481	-0.9449	10	0.87932	D	0	-37.8696	17.7077	0.88313	0.0:0.0:1.0:0.0	.	261	O75385	ULK1_HUMAN	H	261;178	ENSP00000324560:R261H;ENSP00000438953:R178H	ENSP00000324560:R261H	R	+	2	0	ULK1	130960473	1.000000	0.71417	0.943000	0.38184	0.142000	0.21351	4.701000	0.61810	2.474000	0.83562	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3	1	0	1	41	188	0	35	1	9.992321e-01	11	42	0	35	2		0	0	0	0	0	2	1	1	40	184	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ULK1	8408	broad.mit.edu	37	12	132405897	132405897	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132405897C>A	ENST00000321867.4	+	28	3495	c.3144C>A	c.(3142-3144)atC>atA	p.I1048I	ULK1_ENST00000540647.1_Silent_p.I293I	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1			29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				TGACTGGCATCTGTGCCTGAC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000321867.4	1	1	hg19	CCDS9274.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3	0	0	1	220	820	1	155	1	9.999713e-01	13	64	1	155	4		0	0	0	0	0	2	1	1	219	811	1	154	22								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PUS1	80324	broad.mit.edu	37	12	132426155	132426155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132426155G>A	ENST00000376649.3	+	5	1363	c.863G>A	c.(862-864)aGc>aAc	p.S288N	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N|PUS1_ENST00000542167.2_Missense_Mutation_p.S235N|PUS1_ENST00000440818.2_Missense_Mutation_p.S260N	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1			11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				AAGGGCCAGAGCTTCATGATG	0.607000													Esophageal Squamous(102;671 2009 17384 45666)											0							SO:0001583	missense			ENST00000376649.3	1	1	hg19	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033607	0.93575	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.17	5.17	0.71159	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89639	0.3861	10	0.87932	D	0	-10.5566	18.6497	0.91427	0.0:0.0:1.0:0.0	.	235;288	F5H1S9;Q9Y606	.;TRUA_HUMAN	N	260;288;260;260;235	ENSP00000392451:S260N;ENSP00000365837:S288N;ENSP00000324726:S260N;ENSP00000400032:S260N;ENSP00000438948:S235N	ENSP00000324726:S260N	S	+	2	0	PUS1	130992108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.405000	0.81733	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	0	0	1	134	585	1	125	1	9.999996e-01	47	94	1	125	6		0	0	0	0	0	2	1	1	130	578	1	124	19								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP400	57634	broad.mit.edu	37	12	132475998	132475998	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132475998T>C	ENST00000333577.4	+	11	2893	c.2784T>C	c.(2782-2784)tcT>tcC	p.S928S	EP400_ENST00000330386.6_Silent_p.S892S|EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000389561.2_Silent_p.S892S|EP400_ENST00000332482.4_Silent_p.S855S			Q96L91	EP400_HUMAN	E1A binding protein p400			161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)			AGGAAAGTTCTCTGGTAAGTT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000333577.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	95	464	0	111	1	9.946695e-01	6	35	0	111	2		0	0	0	0	0	2	1	1	92	455	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP400	57634	broad.mit.edu	37	12	132498065	132498065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132498065G>A	ENST00000333577.4	+	19	3859	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	EP400_ENST00000330386.6_Silent_p.P1214P|EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000389561.2_Silent_p.P1214P|EP400_ENST00000332482.4_Silent_p.P1177P			Q96L91	EP400_HUMAN	E1A binding protein p400			161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)			TCGACTCGCCGCTGCACAATA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000333577.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	110	386	0	88	1	9.999608e-01	15	39	0	88	2		0	0	0	0	0	2	1	1	109	382	0	85	2								-3.985760	1	1	121410	4	40	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP400	57634	broad.mit.edu	37	12	132502101	132502101	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132502101C>T	ENST00000333577.4	+	21	4162	c.4053C>T	c.(4051-4053)agC>agT	p.S1351S	EP400_ENST00000330386.6_Silent_p.S1315S|EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000389561.2_Silent_p.S1315S|EP400_ENST00000332482.4_Silent_p.S1278S			Q96L91	EP400_HUMAN	E1A binding protein p400			161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)			CCTTGAAGAGCGGGCACTTTG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000333577.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0	81	414	0	84	1	9.917660e-01	10	30	0	84	2		0	0	0	0	0	2	1	1	81	406	0	84	2								-20.000000	1	1	121412	2	36	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP400	57634	broad.mit.edu	37	12	132516653	132516653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132516653G>A	ENST00000333577.4	+	31	6127	c.6018G>A	c.(6016-6018)tgG>tgA	p.W2006*	EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*|EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*			Q96L91	EP400_HUMAN	E1A binding protein p400			161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)			CTCAGGAGTGGTGCGATAGGA	0.507000																								0							SO:0001587	stop_gained			ENST00000333577.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	46	12.503708	0.99673	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	.	.	.	X	2006;1970;1969;1933;1889;1970	.	ENSP00000330620:W1889X	W	+	3	0	EP400	131082606	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.445000	0.66594	2.793000	0.96121	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	20	628	0	125	0	4.348720e-01	0	46	0	125	2		0	0	0	0	0	2	1	9.999942e-01	20	616	0	125	2								-3.548076	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.380000	0.230000	1.000000	0.360000	0.435932	0.380000	0	2.900000e-01	5.000000e-01
EP400	57634	broad.mit.edu	37	12	132528242	132528242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132528242C>T	ENST00000333577.4	+	35	6636	c.6527C>T	c.(6526-6528)tCt>tTt	p.S2176F	EP400_ENST00000330386.6_Missense_Mutation_p.S2059F|EP400_ENST00000389562.2_Missense_Mutation_p.S2139F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F|EP400_ENST00000332482.4_Missense_Mutation_p.S2103F			Q96L91	EP400_HUMAN	E1A binding protein p400			161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)			TTCCATACTTCTATTGAGCAA	0.289000																								0							SO:0001583	missense			ENST00000333577.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	4.909	0.168950	0.09339	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90732	-2.72;-2.71;-2.72;-2.72;-2.72	5.74	5.74	0.90152	.	0.421443	0.28803	N	0.014087	D	0.92424	0.7595	M	0.73962	2.25	0.09310	N	1	P;P;P	0.50617	0.937;0.937;0.937	P;P;P	0.49999	0.628;0.628;0.628	D	0.87876	0.2674	10	0.54805	T	0.06	.	14.739	0.69440	0.1446:0.8554:0.0:0.0	.	2140;2059;2139	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	F	2176;2140;2139;2103;2059;2140	ENSP00000333602:S2176F;ENSP00000374212:S2140F;ENSP00000374213:S2139F;ENSP00000331737:S2103F;ENSP00000330620:S2059F	ENSP00000330620:S2059F	S	+	2	0	EP400	131094195	0.969000	0.33509	0.024000	0.17045	0.219000	0.24729	4.482000	0.60257	2.712000	0.92718	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	23	162	0	53	0	9.556006e-01	1	38	0	53	2		0	0	0	0	0	2	1	9.999995e-01	23	159	0	53	2								-3.223731	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.980000	1.000000	1.000000	0.997655	0.990000	1	9.900000e-01	1
EP400	57634	broad.mit.edu	37	12	132549269	132549269	+	Silent	SNP	G	G	A	rs144085795		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132549269G>A	ENST00000333577.4	+	49	8608	c.8499G>A	c.(8497-8499)ccG>ccA	p.P2833P	EP400_ENST00000330386.6_Silent_p.P2716P|EP400_ENST00000389562.2_Silent_p.P2796P|EP400_ENST00000389561.2_Silent_p.P2797P|EP400_ENST00000332482.4_Silent_p.P2760P			Q96L91	EP400_HUMAN	E1A binding protein p400			161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)			AGCCCCCACCGCCACAGGCCC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000333577.4	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	80	452	0	76	1	9.844457e-01	5	34	0	76	2		0	0	0	0	0	2	1	1	76	447	0	76	2								-3.018055	1	1	121372	293	56	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP400	57634	broad.mit.edu	37	12	132554069	132554069	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132554069C>T	ENST00000333577.4	+	52	9121	c.9012C>T	c.(9010-9012)ggC>ggT	p.G3004G	EP400_ENST00000330386.6_Silent_p.G2887G|EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000389561.2_Silent_p.G2968G|EP400_ENST00000332482.4_Silent_p.G2931G			Q96L91	EP400_HUMAN	E1A binding protein p400			161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)			CCACCCCTGGCGCGCAGCAGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000333577.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	127	573	0	133	1	9.983586e-01	11	34	0	133	2		0	0	0	0	0	2	1	1	126	565	0	131	2								-3.195445	1	1	121412	1	28	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP400	57634	broad.mit.edu	37	12	132561978	132561978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132561978G>A	ENST00000333577.4	+	54	9349	c.9240G>A	c.(9238-9240)gcG>gcA	p.A3080A	RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000330386.6_Silent_p.A2963A|EP400_ENST00000389562.2_Silent_p.A3043A|EP400_ENST00000389561.2_Silent_p.A3044A|EP400_ENST00000332482.4_Silent_p.A3007A			Q96L91	EP400_HUMAN	E1A binding protein p400			161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)			TCACGCAGGCGACGGCGGCCG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000333577.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	18	471	0	77	1	7.450368e-01	3	68	0	77	2		0	0	0	0	0	2	1	9.999790e-01	17	462	0	75	2								-16.799510	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.450000	0.270000	1.000000	0.440000	0.503591	0.450000	0	3.500000e-01	6.100000e-01
DDX51	317781	broad.mit.edu	37	12	132625245	132625245	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132625245C>T	ENST00000397333.3	-	10	1514	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51			10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)			GGACGACCAGCGGCTTAGAGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000397333.3	1	1	hg19	CCDS41865.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	1	0	0	31	355	0	77	1	8.569135e-01	5	37	0	77	2		0	0	0	0	0	2	1	1	30	350	0	76	2								-3.221883	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.970000	0.670000	1.000000	1.000000	0.924196	0.970000	1	8.000000e-01	1
DDX51	317781	broad.mit.edu	37	12	132626412	132626412	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132626412C>T	ENST00000397333.3	-	6	1016	c.978G>A	c.(976-978)gaG>gaA	p.E326E	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51			10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)			GGACGAGGCTCTCCTGCTCCT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000397333.3	1	1	hg19	CCDS41865.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	1	0	1	45	227	0	49	1	9.972137e-01	12	36	0	49	2		0	0	0	0	0	2	1	1	45	225	0	48	2								-19.999920	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX51	317781	broad.mit.edu	37	12	132627285	132627285	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132627285A>G	ENST00000397333.3	-	3	696	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51			10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)			GGAAAGTAGGACGAGATGCCG	0.627000																								0							SO:0001583	missense			ENST00000397333.3	1	1	hg19	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168370	0.38315	.	.	ENSG00000185163	ENST00000397333	T	0.02103	4.45	4.57	0.326	0.15908	DEAD-like helicase (1);	0.501813	0.22809	N	0.055367	T	0.03915	0.0110	M	0.80746	2.51	0.22468	N	0.99908	P	0.44986	0.847	B	0.42738	0.396	T	0.32052	-0.9921	10	0.35671	T	0.21	-19.5276	5.8345	0.18599	0.5219:0.3214:0.0:0.1567	.	220	Q8N8A6	DDX51_HUMAN	P	220	ENSP00000380495:S220P	ENSP00000380495:S220P	S	-	1	0	DDX51	131193238	0.380000	0.25131	0.325000	0.25375	0.683000	0.39861	0.895000	0.28363	0.111000	0.17947	0.402000	0.26972	TCC		TCGA-IB-7651-01A-11D-2154-08	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	1	0	1	73	303	0	71	1	9.706457e-01	6	20	0	71	2		0	0	0	0	0	2	1	1	73	297	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOC4L	79050	broad.mit.edu	37	12	132636135	132636135	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636135C>T	ENST00000330579.1	+	12	1221	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_Silent_p.L9L	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)			14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				CATCTGTAACCTGCTGCGCCG	0.736000																								0							SO:0001819	synonymous_variant			ENST00000330579.1	0	1	hg19	CCDS9277.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	0	0	0	6	141	0	25	1	5.492109e-01	11	30	0	25	2		0	0	0	0	0	2	1	9.659693e-01	6	141	0	25	2								-9.456253	1	1	120290	35	42	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.530000	0.220000	1.000000	1.000000	0.578938	0.530000	0	3.500000e-01	8.400000e-01
NOC4L	79050	broad.mit.edu	37	12	132636673	132636673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636673C>T	ENST00000330579.1	+	14	1403	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	NOC4L_ENST00000538784.1_Silent_p.S69S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)			14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				AAGCCGCCAGCGTCATCAACC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000330579.1	1	1	hg19	CCDS9277.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	1	0	1	28	154	0	43	1	9.997560e-01	19	56	0	43	2		0	0	0	0	0	2	1	1	28	152	0	43	2								-20.000000	1	0	120692	2	30	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
NOC4L	79050	broad.mit.edu	37	12	132636687	132636687	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636687C>T	ENST00000330579.1	+	14	1417	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)			14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)				ATCAACCAGGCCCTGTCCATG	0.692000																								0							SO:0001583	missense			ENST00000330579.1	1	1	hg19	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	C	8.870	0.948946	0.18356	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.30448	1.53;1.53	4.59	-2.23	0.06930	.	0.527270	0.19773	N	0.106394	T	0.15305	0.0369	N	0.22421	0.69	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.41790	T	0.15	-3.0191	5.1389	0.14948	0.1287:0.4935:0.0:0.3778	.	459	Q9BVI4	NOC4L_HUMAN	V	459;74	ENSP00000328854:A459V;ENSP00000443336:A74V	ENSP00000328854:A459V	A	+	2	0	NOC4L	131202640	0.088000	0.21588	0.006000	0.13384	0.280000	0.26924	0.526000	0.22971	-0.980000	0.03524	0.478000	0.44815	GCC		TCGA-IB-7651-01A-11D-2154-08	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	1	0	1	24	153	0	43	1	9.999475e-01	22	83	0	43	2		0	0	0	0	0	2	1	9.999998e-01	24	151	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999247	0.990000	1	9.900000e-01	1
GALNT9	50614	broad.mit.edu	37	12	132681759	132681759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132681759C>T	ENST00000328957.8	-	11	1704	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9			9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)			ATCTCCACCTCCAGGCAGCGG	0.622000													Colon(186;2147 2752 13553 41466)											0							SO:0001583	missense			ENST00000328957.8	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	34|34	5.330857|5.330857	0.95733|0.95733	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	4.45|4.45	4.45|4.45	0.53987|0.53987	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77329|0.77329	0.4114|0.4114	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	T|T	0.79964|0.79964	-0.1581|-0.1581	10|5	0.42905|.	T|.	0.14|.	.|.	17.0974|17.0974	0.86639|0.86639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320;569;426|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	K|E	203;569;320;203|341	ENSP00000380488:E203K;ENSP00000329846:E569K;ENSP00000439745:E320K;ENSP00000440544:E203K|.	ENSP00000329846:E569K|.	E|G	-|-	1|2	0|0	GALNT9|GALNT9	131247712|131247712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.545000|7.545000	0.82128|0.82128	1.997000|1.997000	0.58415|0.58415	0.457000|0.457000	0.33378|0.33378	GAG|GGA		TCGA-IB-7651-01A-11D-2154-08	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	1	0	1	56	282	0	56	0	7.570582e-02	0	3	0	56	2		0	0	0	0	0	2	1	1	54	277	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RX2	22953	broad.mit.edu	37	12	133196281	133196281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133196281G>T	ENST00000389110.3	+	3	363	c.326G>T	c.(325-327)aGc>aTc	p.S109I	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2			20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)			AGCGTGTTCAGCATCATCACC	0.741000																								0							SO:0001583	missense			ENST00000389110.3	1	1	hg19	CCDS31931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.049789|3.049789	0.55218|0.55218	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000542301;ENST00000536121;ENST00000535910|ENST00000389110;ENST00000343948;ENST00000348800	.|T;T;T	.|0.03951	.|3.75;3.75;3.75	4.03|4.03	3.09|3.09	0.35607|0.35607	.|.	.|0.141387	.|0.64402	.|D	.|0.000007	T|T	0.08313|0.08313	0.0207|0.0207	M|M	0.61703|0.61703	1.905|1.905	0.42033|0.42033	D|D	0.991037|0.991037	.|P;D;P;P	.|0.53745	.|0.837;0.962;0.837;0.646	.|B;P;B;B	.|0.46825	.|0.334;0.528;0.416;0.225	T|T	0.03503|0.03503	-1.1030|-1.1030	5|10	.|0.72032	.|D	.|0.01	-32.2742|-32.2742	8.6119|8.6119	0.33808|0.33808	0.0:0.2552:0.6078:0.137|0.0:0.2552:0.6078:0.137	.|.	.|109;109;109;109	.|Q32MC3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.|.;.;P2RX2_HUMAN;.	S|I	120;95;65|109	.|ENSP00000373762:S109I;ENSP00000343339:S109I;ENSP00000345095:S109I	.|ENSP00000343339:S109I	A|S	+|+	1|2	0|0	P2RX2|P2RX2	131706354|131706354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.696000|0.696000	0.40369|0.40369	3.291000|3.291000	0.51764|0.51764	2.072000|2.072000	0.62099|0.62099	0.511000|0.511000	0.50034|0.50034	GCA|AGC		TCGA-IB-7651-01A-11D-2154-08	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1	1	0	0	35	171	0	29	0	0	0	1	0	29	2		0	0	0	0	0	2	1	1	34	169	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
POLE	5426	broad.mit.edu	37	12	133201511	133201511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133201511C>T	ENST00000320574.5	-	48	6770	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	p.A2243S(2)		89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		Cladribine(DB00242)	ATGGTGAGGGCGAAGTCTCCC	0.657000								DNA polymerases (catalytic subunits)																2	Substitution - Missense(2)						SO:0001583	missense			ENST00000320574.5	1	1	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.564026	0.03939	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02421	4.3;4.3;4.3	5.52	-8.86	0.00795	.	1.382530	0.04397	N	0.363543	T	0.01189	0.0039	N	0.03238	-0.38	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.48906	-0.8993	10	0.15952	T	0.53	.	6.3917	0.21591	0.3421:0.2121:0.0:0.4458	.	2243;453	Q07864;B3KS74	DPOE1_HUMAN;.	T	453;2243;2254;213;2216	ENSP00000322570:A2243T;ENSP00000406383:A2254T;ENSP00000445753:A2216T	ENSP00000322473:A213T	A	-	1	0	POLE	131711584	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.816000	0.01720	-1.280000	0.02402	-0.258000	0.10820	GCC		TCGA-IB-7651-01A-11D-2154-08	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	1	39	186	0	56	1	9.981093e-01	16	33	0	56	2		0	0	0	0	0	2	1	1	39	185	0	56	2								-3.400739	1	1	121408	3	34	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
POLE	5426	broad.mit.edu	37	12	133220118	133220118	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133220118T>C	ENST00000320574.5	-	34	4362	c.4319A>G	c.(4318-4320)cAc>cGc	p.H1440R	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.H1413R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit			89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		Cladribine(DB00242)	ACAGCCCAGGTGCACCAGGGC	0.607000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000320574.5	1	1	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997892	0.35226	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.16324	2.35;2.35;2.35	5.87	4.74	0.60224	.	0.387057	0.31936	N	0.006830	T	0.07954	0.0199	N	0.05199	-0.095	0.25251	N	0.989672	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	10	0.48119	T	0.1	.	6.5082	0.22206	0.1376:0.0728:0.0:0.7895	.	1413;1440	F5H1D6;Q07864	.;DPOE1_HUMAN	R	1440;1451;1413	ENSP00000322570:H1440R;ENSP00000406383:H1451R;ENSP00000445753:H1413R	ENSP00000322570:H1440R	H	-	2	0	POLE	131730191	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.734000	0.47368	1.087000	0.41251	0.524000	0.50904	CAC		TCGA-IB-7651-01A-11D-2154-08	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	0	0	1	177	868	1	212	0	8.085525e-01	1	16	1	212	2		0	0	0	0	0	2	1	1	174	852	1	210	23								-20.000000	1	0	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLE	5426	broad.mit.edu	37	12	133225890	133225890	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225890A>G	ENST00000320574.5	-	31	4049		c.e31+1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit			89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		Cladribine(DB00242)	CAAGGTCTATACCTGCACAAT	0.652000								DNA polymerases (catalytic subunits)																0							SO:0001630	splice_region_variant			ENST00000320574.5	1	1	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008225	0.75046	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0387	0.80648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131735963	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	7.271000	0.78506	2.188000	0.69820	0.454000	0.30748	.		TCGA-IB-7651-01A-11D-2154-08	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	1	33	194	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	33	191	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
POLE	5426	broad.mit.edu	37	12	133225918	133225918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225918G>T	ENST00000320574.5	-	31	4022	c.3979C>A	c.(3979-3981)Ctg>Atg	p.L1327M	POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit			89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		Cladribine(DB00242)	GGAAGGTCCAGGATGCTGCGG	0.662000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000320574.5	1	1	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558197	0.45590	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.71	1.6	0.23607	.	0.066612	0.64402	N	0.000008	T	0.37785	0.1016	L	0.56396	1.775	0.45946	D	0.998771	B;B	0.21606	0.045;0.058	B;B	0.31245	0.126;0.059	T	0.17018	-1.0383	10	0.48119	T	0.1	.	6.7582	0.23526	0.2102:0.0:0.6645:0.1254	.	1300;1327	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1327;1338;1300;1107;304	ENSP00000322570:L1327M;ENSP00000406383:L1338M;ENSP00000445753:L1300M;ENSP00000442519:L1107M	ENSP00000322570:L1327M	L	-	1	2	POLE	131735991	1.000000	0.71417	0.662000	0.29724	0.744000	0.42396	3.979000	0.56888	0.282000	0.22254	-0.300000	0.09419	CTG		TCGA-IB-7651-01A-11D-2154-08	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	1	50	250	0	49	1	8.001749e-01	6	11	0	49	2		0	0	0	0	0	2	1	1	50	244	0	49	2								-20.000000	1	0	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLE	5426	broad.mit.edu	37	12	133244944	133244944	+	Missense_Mutation	SNP	G	G	A	rs61734163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133244944G>A	ENST00000320574.5	-	19	2214	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	POLE_ENST00000535270.1_Missense_Mutation_p.A697V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit			89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		Cladribine(DB00242)	GCACTCACCCGCCAGCCTTCT	0.602000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000320574.5	1	1	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075948	0.76415	0.0	8.14E-4	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.79	5.79	0.91817	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.101295	0.64402	D	0.000002	T	0.26774	0.0655	L	0.55990	1.75	0.47094	D	0.999313	P;P	0.37688	0.605;0.478	B;B	0.36666	0.147;0.23	T	0.01532	-1.1331	10	0.49607	T	0.09	.	20.212	0.98289	0.0:0.0:1.0:0.0	.	697;724	F5H1D6;Q07864	.;DPOE1_HUMAN	V	724;735;697;504;659	ENSP00000322570:A724V;ENSP00000406383:A735V;ENSP00000445753:A697V;ENSP00000442519:A504V	ENSP00000322570:A724V	A	-	2	0	POLE	131755017	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.538000	0.82048	2.780000	0.95670	0.545000	0.68477	GCG		TCGA-IB-7651-01A-11D-2154-08	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	0	0	0	29	733	0	141	0	7.964301e-02	0	12	0	141	2		0	0	0	0	0	2	1	1	30	696	0	132	2								-3.262121	1	1	121348	34	50	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.460000	0.310000	1.000000	0.450000	0.511139	0.460000	0	3.800000e-01	5.900000e-01
POLE	5426	broad.mit.edu	37	12	133250198	133250198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133250198G>A	ENST00000320574.5	-	13	1365	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	POLE_ENST00000535270.1_Missense_Mutation_p.P414L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit			89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		Cladribine(DB00242)	CATGTCCTCCGGGTCTAGCTC	0.637000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000320574.5	1	1	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935356	0.73442	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.16196	4.83;4.83;4.83;2.36	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72773	-0.4192	10	0.87932	D	0	.	19.656	0.95842	0.0:0.0:1.0:0.0	.	414;441	F5H1D6;Q07864	.;DPOE1_HUMAN	L	441;452;414;221;376;59	ENSP00000322570:P441L;ENSP00000406383:P452L;ENSP00000445753:P414L;ENSP00000442519:P221L	ENSP00000322570:P441L	P	-	2	0	POLE	131760271	1.000000	0.71417	0.971000	0.41717	0.024000	0.10985	9.735000	0.98825	2.660000	0.90430	0.305000	0.20034	CCG		TCGA-IB-7651-01A-11D-2154-08	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	0	0	1	161	682	1	169	1	5.959016e-01	6	4	1	169	2		0	0	0	0	0	2	1	1	157	675	1	169	17								-2.693822	1	1	121412	2	36	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	p.P286H(1)		89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		Cladribine(DB00242)	CTCAGCATCAGGAAACTTGAG	0.493000								DNA polymerases (catalytic subunits)																1	Substitution - Missense(1)						SO:0001583	missense			ENST00000320574.5	1	1	hg19	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974541	0.92919	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	R	286;297;259;66;221	ENSP00000322570:P286R;ENSP00000406383:P297R;ENSP00000445753:P259R;ENSP00000442519:P66R	ENSP00000322570:P286R	P	-	2	0	POLE	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	1	0	1	38	202	0	47	1	5.449858e-01	2	9	0	47	2		0	0	0	0	0	2	1	1	37	199	0	47	2								-3.167773	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ANKLE2	23141	broad.mit.edu	37	12	133306443	133306443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133306443C>T	ENST00000357997.5	-	11	2394	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Missense_Mutation_p.A707T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2			45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)			CTTTCTACTGCATTGATTCTT	0.423000																								0							SO:0001583	missense			ENST00000357997.5	1	1	hg19	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581649	0.28180	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.45668	1.92;1.91;0.89;0.89;0.89	5.59	-5.42	0.02640	.	2.199350	0.01281	N	0.009726	T	0.32675	0.0837	L	0.54323	1.7	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.13176	-1.0519	10	0.41790	T	0.15	-12.5222	1.7488	0.02967	0.1812:0.1285:0.3542:0.3362	.	769	Q86XL3	ANKL2_HUMAN	T	707;769;124;124;124	ENSP00000446268:A707T;ENSP00000350686:A769T;ENSP00000437807:A124T;ENSP00000438551:A124T;ENSP00000445760:A124T	ENSP00000350686:A769T	A	-	1	0	ANKLE2	131816516	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.363000	0.07593	-0.884000	0.03976	-0.872000	0.02987	GCA		TCGA-IB-7651-01A-11D-2154-08	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1	1	0	1	79	399	0	82	1	1	37	95	0	82	2		0	0	0	0	0	2	1	1	79	393	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKLE2	23141	broad.mit.edu	37	12	133331501	133331501	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133331501G>T	ENST00000357997.5	-	2	489	c.400C>A	c.(400-402)Cca>Aca	p.P134T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.P72T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2			45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)			ATCCTTTGTGGGTCCTGGCTG	0.483000																								0							SO:0001583	missense			ENST00000357997.5	1	1	hg19	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304815	0.01353	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.27104	2.11;2.12;1.69	5.27	0.0898	0.14460	.	0.936787	0.09106	N	0.847758	T	0.04003	0.0112	N	0.00099	-2.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38607	-0.9653	10	0.02654	T	1	-5.3471	5.8122	0.18471	0.0:0.1446:0.2667:0.5888	.	134;134	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	72;134;134	ENSP00000446268:P72T;ENSP00000350686:P134T;ENSP00000337651:P134T	ENSP00000337651:P134T	P	-	1	0	ANKLE2	131841574	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.065000	0.11617	-0.217000	0.10033	-0.265000	0.10407	CCA		TCGA-IB-7651-01A-11D-2154-08	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1	1	0	1	67	225	0	50	1	1	36	96	0	50	2		0	0	0	0	0	2	1	1	66	221	0	50	2								-3.927966	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGA3	2802	broad.mit.edu	37	12	133349840	133349840	+	Missense_Mutation	SNP	C	C	T	rs144951708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133349840C>T	ENST00000450791.2	-	23	4531	c.4348G>A	c.(4348-4350)Gcc>Acc	p.A1450T	GOLGA3_ENST00000204726.3_Missense_Mutation_p.A1450T			Q08378	GOGA3_HUMAN	golgin A3			64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)			ACCGTCAGGGCGTGCTCCTCC	0.687000																								0							SO:0001583	missense			ENST00000450791.2	0	0	hg19	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	2.781	-0.253470	0.05829	0.0	1.16E-4	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.15372	2.43;2.43	5.81	2.18	0.27775	.	0.133303	0.64402	N	0.000002	T	0.04137	0.0115	N	0.01048	-1.04	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42189	-0.9466	10	0.02654	T	1	.	9.2979	0.37827	0.0:0.2125:0.0:0.7875	.	1450	Q08378	GOGA3_HUMAN	T	1450	ENSP00000204726:A1450T;ENSP00000410378:A1450T	ENSP00000204726:A1450T	A	-	1	0	GOLGA3	131859913	1.000000	0.71417	0.973000	0.42090	0.161000	0.22273	1.502000	0.35704	0.124000	0.18369	-0.295000	0.09555	GCC		TCGA-IB-7651-01A-11D-2154-08	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	1	0	1	6	33	0	8	1	9.716207e-01	8	31	0	8	2		0	0	0	0	0	2	1	9.665047e-01	6	32	0	8	2								-15.662850	1	0	119722	1	28	1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.750000	1.000000	1.000000	0.983948	0.990000	1	9.900000e-01	1
GOLGA3	2802	broad.mit.edu	37	12	133359027	133359027	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133359027T>C	ENST00000450791.2	-	16	3503	c.3320A>G	c.(3319-3321)aAc>aGc	p.N1107S	GOLGA3_ENST00000204726.3_Missense_Mutation_p.N1107S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S			Q08378	GOGA3_HUMAN	golgin A3	p.N1107S(1)		64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)			CAACTTCTTGTTTGACTCCTC	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000450791.2	1	1	hg19	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975351	0.53720	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.32753	1.44;1.44;1.45	6.07	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.50145	-0.8862	10	0.26408	T	0.33	.	12.2323	0.54495	0.0:0.0661:0.0:0.9339	.	1107;1107	Q08378-2;Q08378	.;GOGA3_HUMAN	S	1107	ENSP00000204726:N1107S;ENSP00000410378:N1107S;ENSP00000409303:N1107S	ENSP00000204726:N1107S	N	-	2	0	GOLGA3	131869100	1.000000	0.71417	0.841000	0.33234	0.148000	0.21650	6.113000	0.71553	1.110000	0.41699	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	1	0	1	124	595	1	143	1	9.998743e-01	25	63	1	143	4		0	0	0	0	0	2	1	1	121	588	1	140	18								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHFR	55743	broad.mit.edu	37	12	133428227	133428227	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133428227T>C	ENST00000432561.2	-	12	1578	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	CHFR_ENST00000450056.2_Missense_Mutation_p.D490G|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000443047.2_Missense_Mutation_p.D410G|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000266880.7_Missense_Mutation_p.D501G|CHFR_ENST00000315585.7_Missense_Mutation_p.D461G			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase			26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)			GACACGCGGGTCCTGCTCGCG	0.657000																								0							SO:0001583	missense			ENST00000432561.2	1	1	hg19	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	T	7.948	0.744314	0.15710	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.93	3.6	0.41247	.	0.444283	0.27035	N	0.021257	T	0.23926	0.0579	L	0.40543	1.245	0.32812	D	0.501575	P;B;B;B;B	0.35575	0.51;0.071;0.042;0.071;0.029	B;B;B;B;B	0.36567	0.228;0.167;0.08;0.167;0.096	T	0.25433	-1.0132	10	0.20519	T	0.43	-17.3777	10.1814	0.42970	0.0:0.1336:0.0:0.8664	.	410;501;502;490;461	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	G	461;410;490;501;124;302;502	ENSP00000320557:D461G;ENSP00000416431:D410G;ENSP00000398735:D490G;ENSP00000266880:D501G;ENSP00000442327:D124G;ENSP00000392395:D502G	ENSP00000266880:D501G	D	-	2	0	CHFR	131938300	1.000000	0.71417	0.994000	0.49952	0.041000	0.13682	2.505000	0.45424	0.513000	0.28278	-0.250000	0.11733	GAC		TCGA-IB-7651-01A-11D-2154-08	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2	1	0	0	49	1010	0	173	1	5.752655e-01	3	38	0	173	2		0	0	0	0	0	2	1	1	49	989	0	170	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.550000	0.410000	1.000000	0.550000	0.596518	0.550000	0	4.700000e-01	6.700000e-01
ZNF10	7556	broad.mit.edu	37	12	133732818	133732818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133732818C>A	ENST00000248211.6	+	5	1208	c.986C>A	c.(985-987)tCc>tAc	p.S329Y	ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10			26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)			TGTGGAAAATCCTTCAGCTGG	0.413000																								0							SO:0001583	missense			ENST00000248211.6	1	1	hg19	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370099	0.24771	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.51574	0.7;0.7;3.1	3.92	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.902656	0.09051	N	0.855773	T	0.44222	0.1283	L	0.54323	1.7	0.19300	N	0.999971	B	0.30664	0.289	B	0.30401	0.115	T	0.34625	-0.9821	9	.	.	.	.	12.4812	0.55844	0.0:0.3598:0.6402:0.0	.	329	P21506	ZNF10_HUMAN	Y	329;329;195	ENSP00000248211:S329Y;ENSP00000393814:S329Y;ENSP00000384893:S195Y	.	S	+	2	0	ZNF10	132242891	0.000000	0.05858	0.298000	0.25002	0.978000	0.69477	0.657000	0.24963	0.917000	0.36895	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	1	0	1	79	377	0	81	0	6.430698e-01	0	12	0	81	2		0	0	0	0	0	2	1	1	76	361	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF268	10795	broad.mit.edu	37	12	133778993	133778993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133778993C>T	ENST00000536435.2	+	6	1051	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	ZNF268_ENST00000537565.1_Nonsense_Mutation_p.Q80*|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.Q241*	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268			24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)			TAAACATGAGCAAACTGTTAT	0.313000																								0							SO:0001587	stop_gained			ENST00000536435.2	0	1	hg19	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832828	0.50951	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	.	.	.	4.13	0.00634	0.14066	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5718	0.22543	0.4768:0.359:0.1641:0.0	.	.	.	.	X	241;241;80;80	.	.	Q	+	1	0	ZNF268	132289066	0.001000	0.12720	0.003000	0.11579	0.060000	0.15804	-0.163000	0.09997	0.099000	0.17552	0.637000	0.83480	CAA		TCGA-IB-7651-01A-11D-2154-08	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	1	0	0	5	90	0	21	1	2.396306e-01	3	12	0	21	2		0	0	0	0	0	2	1	9.357552e-01	5	88	0	21	2								-8.885000	1	1	0	0		1	1	2	3	2.012185	0	0.170000	2.060000	1.776886e-01	0.690000	0.260000	1.000000	1.000000	0.702612	0.690000	0	4.300000e-01	1
ZNF268	10795	broad.mit.edu	37	12	133779301	133779301	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133779301C>T	ENST00000536435.2	+	6	1359	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	ZNF268_ENST00000537565.1_Silent_p.F182F|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.F343F	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268			24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)			CATTCAGTTTCCATTCACAGC	0.393000																								0							SO:0001819	synonymous_variant			ENST00000536435.2	1	1	hg19	CCDS45012.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	1	0	1	13	65	0	21	1	9.235007e-01	4	21	0	21	2		0	0	0	0	0	2	1	9.995983e-01	13	62	0	21	2								-19.999330	1	1	121264	1	24	1						0.170000	2.060000									0	0
ZNF268	10795	broad.mit.edu	37	12	133780923	133780923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133780923G>T	ENST00000536435.2	+	6	2981	c.2651G>T	c.(2650-2652)aGa>aTa	p.R884I	ZNF268_ENST00000537565.1_Missense_Mutation_p.R723I|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R884I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268			24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)			GTACATCAAAGAACTCATTCA	0.408000																								0							SO:0001583	missense			ENST00000536435.2	0	1	hg19	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364244	0.61513	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565	T;T	0.02446	4.29;4.29	4.29	3.35	0.38373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	L	0.55743	1.74	0.34802	D	0.736787	D	0.55800	0.973	P	0.48598	0.583	T	0.37526	-0.9702	8	.	.	.	.	9.1398	0.36897	0.0:0.1565:0.6828:0.1607	.	884	Q14587	ZN268_HUMAN	I	884;884;723	ENSP00000228289:R884I;ENSP00000445713:R723I	.	R	+	2	0	ZNF268	.	0.001000	0.12720	0.998000	0.56505	0.975000	0.68041	0.913000	0.28611	2.217000	0.71921	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	1	0	1	11	44	0	9	1	9.913122e-01	6	31	0	9	2		0	0	0	0	0	2	1	9.987915e-01	10	44	0	9	2								-19.987850	1	1	0	0		1						0.170000	2.060000									0	0
ERC1	23085	broad.mit.edu	37	12	1346029	1346029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1346029C>T	ENST00000397203.2	+	13	2852	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R816*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R816*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1			38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		GGAGGCGCGACGACGGGAGGA	0.458000																								0							SO:0001587	stop_gained			ENST00000397203.2	0	1	hg19	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	C	37	6.457092	0.97581	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.81	2.76	0.32466	.	0.116075	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.4586	15.2903	0.73862	0.4961:0.5039:0.0:0.0	.	.	.	.	X	792;816;792;792;520;788;792;520;816;816;816;792;568;456	.	ENSP00000299183:R520X	R	+	1	2	ERC1	1216290	0.999000	0.42202	0.441000	0.26858	0.443000	0.32047	2.599000	0.46231	0.718000	0.32166	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	0	15	156	0	50	1	9.893556e-01	2	79	0	50	2		0	0	0	0	0	2	1	9.998752e-01	14	153	0	49	2								-19.914400	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.980000	0.580000	1.000000	1.000000	0.911159	0.980000	1	7.600000e-01	1
GRIN2B	2904	broad.mit.edu	37	12	13716563	13716563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13716563G>A	ENST00000609686.1	-	13	3818	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B			143				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCACTCCACGTTGGTCAGGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000609686.1	1	1	hg19	CCDS8662.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	0	145	470	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	142	461	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2B	2904	broad.mit.edu	37	12	13717545	13717545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13717545G>A	ENST00000609686.1	-	13	2836	c.2627C>T	c.(2626-2628)gCg>gTg	p.A876V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B			143				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCTCGATCGCCACCCCATG	0.542000																								0							SO:0001583	missense			ENST00000609686.1	0	1	hg19	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311571	0.40895	.	.	ENSG00000150086	ENST00000279593	T	0.11495	2.77	5.3	5.3	0.74995	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.128335	0.56097	D	0.000035	T	0.12817	0.0311	L	0.29908	0.895	0.45634	D	0.998566	P	0.51537	0.946	P	0.45406	0.479	T	0.03795	-1.1003	10	0.36615	T	0.2	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	876	Q13224	NMDE2_HUMAN	V	876	ENSP00000279593:A876V	ENSP00000279593:A876V	A	-	2	0	GRIN2B	13608812	1.000000	0.71417	0.975000	0.42487	0.610000	0.37248	7.068000	0.76748	2.492000	0.84095	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	0	0	0	17	616	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	9.999624e-01	16	611	0	119	2								-2.467307	0	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.320000	0.190000	1.000000	0.310000	0.376164	0.320000	0	2.500000e-01	4.300000e-01
GRIN2B	2904	broad.mit.edu	37	12	13720117	13720117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13720117C>T	ENST00000609686.1	-	12	2649	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B			143				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGTCAATGTCCAGCTGGCTG	0.527000																								0							SO:0001583	missense			ENST00000609686.1	1	1	hg19	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560709	0.96527	.	.	ENSG00000150086	ENST00000279593	T	0.49720	0.77	5.43	5.43	0.79202	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67300	-0.5705	10	0.72032	D	0.01	.	19.2468	0.93905	0.0:1.0:0.0:0.0	.	814	Q13224	NMDE2_HUMAN	N	814	ENSP00000279593:D814N	ENSP00000279593:D814N	D	-	1	0	GRIN2B	13611384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.554000	0.86153	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	1	61	353	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	60	347	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2B	2904	broad.mit.edu	37	12	13828724	13828724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13828724C>T	ENST00000609686.1	-	4	1289	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B			143				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCACCAGTTTCGGGTGCATCT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000609686.1	1	1	hg19	CCDS8662.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	1	66	343	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	65	334	0	99	2								-3.153949	1	1	121402	8	45	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2B	2904	broad.mit.edu	37	12	13906396	13906396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13906396G>A	ENST00000609686.1	-	3	1074	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B			143				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGGCGGGGAGGCCATAGTCC	0.537000																								0							SO:0001583	missense			ENST00000609686.1	1	1	hg19	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846065	0.91277	.	.	ENSG00000150086	ENST00000279593	T	0.10763	2.84	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.85299	2.745	0.80722	D	1	P	0.34780	0.468	B	0.35278	0.199	T	0.02539	-1.1144	10	0.56958	D	0.05	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	289	Q13224	NMDE2_HUMAN	F	289	ENSP00000279593:L289F	ENSP00000279593:L289F	L	-	1	0	GRIN2B	13797663	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.461000	0.73522	2.775000	0.95449	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	1	0	1	37	224	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	37	219	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999948	0.990000	1	9.900000e-01	1
ATF7IP	55729	broad.mit.edu	37	12	14634068	14634068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14634068C>T	ENST00000540793.1	+	12	3384	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.R1085*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein			54					GGCTCCCTTGCGAGGAACTGT	0.488000																								0							SO:0001587	stop_gained			ENST00000540793.1	0	1	hg19	CCDS8663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.375134|9.375134	0.99151|0.99151	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000535738|ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.|.	.|.	.|.	5.43|5.43	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.52532	.|D	.|0.000065	T|.	0.36220|.	0.0959|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25950|.	-1.0117|.	3|.	.|0.02654	.|T	.|1	-10.9841|-10.9841	15.726|15.726	0.77761|0.77761	0.1941:0.8059:0.0:0.0|0.1941:0.8059:0.0:0.0	.|.	.|.	.|.	.|.	V|X	90|1077;1076;1076;1085;1077	.|.	.|ENSP00000261168:R1077X	A|R	+|+	2|1	0|2	ATF7IP|ATF7IP	14525335|14525335	0.725000|0.725000	0.28048|0.28048	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	1.798000|1.798000	0.38814|0.38814	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	1	0	0	70	368	0	75	1	9.999183e-01	5	69	0	75	2		0	0	0	0	0	2	1	1	68	358	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GUCY2C	2984	broad.mit.edu	37	12	14781607	14781607	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14781607A>T	ENST00000261170.3	-	20	2358	c.2222T>A	c.(2221-2223)aTt>aAt	p.I741N		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)			51				Linaclotide(DB08890)	TGTAGTCTCAATTTTTTTGAA	0.348000																								0							SO:0001583	missense			ENST00000261170.3	1	0	hg19	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107079	0.77096	.	.	ENSG00000070019	ENST00000261170	D	0.85339	-1.97	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047168	0.85682	D	0.000000	D	0.93517	0.7931	M	0.93638	3.44	0.80722	D	1	D	0.58970	0.984	D	0.65233	0.933	D	0.95088	0.8219	10	0.87932	D	0	.	14.0963	0.65023	1.0:0.0:0.0:0.0	.	741	P25092	GUC2C_HUMAN	N	741	ENSP00000261170:I741N	ENSP00000261170:I741N	I	-	2	0	GUCY2C	14672874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.969000	0.93411	1.797000	0.52628	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	1	0	1	107	472	0	77	1	7.922189e-01	2	13	0	77	2		0	0	0	0	0	2	1	1	105	430	0	68	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GUCY2C	2984	broad.mit.edu	37	12	14805932	14805932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14805932C>A	ENST00000261170.3	-	13	1623	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)			51				Linaclotide(DB08890)	TGTATCTCGTCTTTTGTCATC	0.473000																								0							SO:0001583	missense			ENST00000261170.3	1	1	hg19	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141560	0.77775	.	.	ENSG00000070019	ENST00000261170	D	0.81739	-1.53	5.18	4.29	0.51040	Protein kinase, catalytic domain (1);	0.130033	0.64402	D	0.000001	T	0.80613	0.4656	L	0.47716	1.5	0.58432	D	0.999999	P	0.49307	0.922	P	0.50896	0.653	T	0.79485	-0.1784	10	0.38643	T	0.18	.	13.4927	0.61405	0.0:0.9232:0.0:0.0768	.	496	P25092	GUC2C_HUMAN	I	496	ENSP00000261170:R496I	ENSP00000261170:R496I	R	-	2	0	GUCY2C	14697199	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.709000	0.54853	1.295000	0.44724	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	1	0	1	192	656	0	114	1	8.589550e-01	12	2	0	114	2		0	0	0	0	0	2	1	1	190	637	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WBP11	51729	broad.mit.edu	37	12	14947480	14947480	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14947480G>T	ENST00000261167.2	-	7	945	c.712C>A	c.(712-714)Cct>Act	p.P238T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11			30					CCAAGTTCAGGACTATATAAC	0.428000																								0							SO:0001583	missense			ENST00000261167.2	1	1	hg19	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355146	0.41700	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	.	0.411905	0.26072	N	0.026504	T	0.62344	0.2420	L	0.40543	1.245	0.48632	D	0.999686	D	0.64830	0.994	P	0.62885	0.908	T	0.54450	-0.8292	9	0.12766	T	0.61	-6.7753	14.7645	0.69629	0.0:0.0:1.0:0.0	.	238	Q9Y2W2	WBP11_HUMAN	T	238	.	ENSP00000261167:P238T	P	-	1	0	WBP11	14838747	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.762000	0.55250	2.437000	0.82529	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	1	0	0	64	1511	0	295	1	9.982749e-01	16	202	0	295	2		0	0	0	0	0	2	1	1	63	1482	0	295	2								-4.705537	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.480000	0.370000	1.000000	0.480000	0.519776	0.480000	0	4.200000e-01	5.600000e-01
ART4	420	broad.mit.edu	37	12	14995976	14995976	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14995976G>A	ENST00000228936.4	-	1	453	c.72C>T	c.(70-72)atC>atT	p.I24I	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)			15					CAAGGAGCCAGATTCTCATCG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000228936.4	1	1	hg19	CCDS8668.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	1	0	1	38	156	0	45	0	9.421005e-01	0	22	0	45	2		0	0	0	0	0	2	1	1	38	152	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RERG	85004	broad.mit.edu	37	12	15262298	15262298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15262298C>T	ENST00000256953.2	-	5	682	c.346G>A	c.(346-348)Gtt>Att	p.V116I	RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000536465.1_Missense_Mutation_p.V116I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000546331.1_Missense_Mutation_p.V97I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor			16					TTGTTTCCAACCAAGATGAGA	0.473000																								0							SO:0001583	missense			ENST00000256953.2	1	1	hg19	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696700	0.88830	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.056076	0.64402	D	0.000001	D	0.87398	0.6167	L	0.58669	1.825	0.80722	D	1	P;P	0.46395	0.877;0.651	P;P	0.53861	0.736;0.736	D	0.87856	0.2661	10	0.59425	D	0.04	.	17.948	0.89045	0.0:1.0:0.0:0.0	.	97;116	B4DI02;Q96A58	.;RERG_HUMAN	I	116;116;116;97	ENSP00000256953:V116I;ENSP00000441505:V116I;ENSP00000438280:V116I;ENSP00000444485:V97I	ENSP00000256953:V116I	V	-	1	0	RERG	15153565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.773000	0.62331	2.654000	0.90174	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	1	0	1	217	861	0	245	0	9.999546e-01	0	58	0	245	2		0	0	0	0	0	2	1	1	213	846	0	244	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RERG	85004	broad.mit.edu	37	12	15370385	15370385	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15370385C>A	ENST00000256953.2	-	2	375	c.39G>T	c.(37-39)ggG>ggT	p.G13G	RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000546331.1_Silent_p.G13G	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor			16					CGCCTGCTCTCCCAAATATTG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000256953.2	1	1	hg19	CCDS8673.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	1	0	1	143	548	0	125	0	9.992891e-01	1	42	0	125	2		0	0	0	0	0	2	1	1	133	518	1	122	18								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRO	5800	broad.mit.edu	37	12	15654735	15654735	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654735C>T	ENST00000281171.4	+	5	1173	c.843C>T	c.(841-843)tcC>tcT	p.S281S	PTPRO_ENST00000348962.2_Silent_p.S281S|PTPRO_ENST00000543886.1_Silent_p.S281S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O			74		Hepatocellular(102;0.244)			ACATTTCTTCCGGTTGGCCTG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000281171.4	1	1	hg19	CCDS8675.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1	0	0	1	38	224	0	47	0	2.229846e-02	0	2	0	47	2		0	0	0	0	0	2	1	1	38	223	0	47	2								-2.847146	1	1	121408	9	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
PTPRO	5800	broad.mit.edu	37	12	15654981	15654981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654981C>T	ENST00000281171.4	+	5	1419	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	PTPRO_ENST00000348962.2_Silent_p.I363I|PTPRO_ENST00000543886.1_Silent_p.I363I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O			74		Hepatocellular(102;0.244)			GGTTCCATATCCATATTGAAC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000281171.4	1	1	hg19	CCDS8675.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1	1	0	1	68	291	0	91	0	0	0	1	0	91	2		0	0	0	0	0	2	1	1	67	285	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRO	5800	broad.mit.edu	37	12	15739837	15739837	+	Missense_Mutation	SNP	G	G	A	rs141467284	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15739837G>A	ENST00000281171.4	+	24	3592	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O			74		Hepatocellular(102;0.244)			AAAGGCTGACGAGATGCAGGA	0.428000																								0							SO:0001583	missense			ENST00000281171.4	1	1	hg19	CCDS8675.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.08	3.298148	0.60086	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.52532	D	0.000075	T	0.75332	0.3835	L	0.35341	1.055	0.58432	D	0.99999	P;D;D	0.60160	0.686;0.987;0.98	B;B;B	0.38056	0.085;0.172;0.264	T	0.80999	-0.1131	10	0.72032	D	0.01	.	18.493	0.90854	0.0:0.0:1.0:0.0	.	249;1060;1088	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	K	1088;1060;277;249;277;249;67	ENSP00000281171:E1088K;ENSP00000343434:E1060K;ENSP00000404188:E277K;ENSP00000437571:E249K;ENSP00000393449:E277K;ENSP00000439234:E249K;ENSP00000446201:E67K	ENSP00000281171:E1088K	E	+	1	0	PTPRO	15631104	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	6.253000	0.72453	2.588000	0.87417	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1	1	0	1	73	387	0	83	0	7.765192e-01	0	17	0	83	2		0	0	0	0	0	2	1	1	72	386	0	81	2								-2.696088	1	1	121412	1	33	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRO	5800	broad.mit.edu	37	12	15742452	15742452	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15742452T>G	ENST00000281171.4	+	25	3804	c.3474T>G	c.(3472-3474)gaT>gaG	p.D1158E	PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O			74		Hepatocellular(102;0.244)			ACATTCGGGATCATGAGTTTG	0.448000																								0							SO:0001583	missense			ENST00000281171.4	1	1	hg19	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	8.168	0.791125	0.16258	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.1	-4.97	0.03029	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.51477	D	0.000096	T	0.59595	0.2205	N	0.13272	0.32	0.34027	D	0.653411	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.56269	-0.8007	10	0.02654	T	1	.	12.0958	0.53755	0.0:0.5968:0.1148:0.2884	.	319;1130;1158	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	E	1158;1130;347;319;347;319	ENSP00000281171:D1158E;ENSP00000343434:D1130E;ENSP00000404188:D347E;ENSP00000437571:D319E;ENSP00000393449:D347E;ENSP00000439234:D319E	ENSP00000281171:D1158E	D	+	3	2	PTPRO	15633719	0.544000	0.26441	0.730000	0.30809	0.741000	0.42261	-0.283000	0.08433	-1.202000	0.02655	-0.441000	0.05720	GAT		TCGA-IB-7651-01A-11D-2154-08	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1	1	0	1	132	469	0	106	0	9.518861e-01	0	19	0	106	2		0	0	0	0	0	2	1	1	128	454	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPS8	2059	broad.mit.edu	37	12	15803788	15803788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15803788C>T	ENST00000281172.5	-	14	1839	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	EPS8_ENST00000543612.1_Missense_Mutation_p.R468H|EPS8_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000542903.1_Missense_Mutation_p.R208H|EPS8_ENST00000543523.1_Missense_Mutation_p.R468H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8			33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)			TTCCTGTTTGCGCTGATGTTC	0.393000																								0							SO:0001583	missense			ENST00000281172.5	1	1	hg19	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231913	0.39399	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07327	3.34;3.34;3.34;3.2;3.2	4.86	3.97	0.46021	.	0.290153	0.34652	N	0.003785	T	0.08891	0.0220	L	0.41710	1.295	0.40309	D	0.978692	B	0.11235	0.004	B	0.06405	0.002	T	0.08617	-1.0713	10	0.54805	T	0.06	-5.4412	13.0165	0.58759	0.0:0.9215:0.0:0.0785	.	468	Q12929	EPS8_HUMAN	H	468;468;468;208;208;468	ENSP00000441867:R468H;ENSP00000281172:R468H;ENSP00000442388:R468H;ENSP00000441888:R208H;ENSP00000437806:R208H	ENSP00000281172:R468H	R	-	2	0	EPS8	15695055	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.162000	0.50755	1.022000	0.39626	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1	1	0	1	82	487	0	103	1	1	92	320	0	103	2		0	0	0	0	0	2	1	1	81	480	0	103	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPS8	2059	broad.mit.edu	37	12	15807132	15807132	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15807132A>G	ENST00000281172.5	-	13	1633	c.1197T>C	c.(1195-1197)aaT>aaC	p.N399N	EPS8_ENST00000543612.1_Silent_p.N399N|EPS8_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000542903.1_Silent_p.N139N|EPS8_ENST00000543523.1_Silent_p.N399N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8			33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)			GTTCATCACCATTGACAGTAT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000281172.5	1	1	hg19	CCDS31753.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1	1	0	1	81	315	0	81	1	1	72	176	0	81	2		0	0	0	0	0	2	1	1	80	307	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRAP	11171	broad.mit.edu	37	12	16047046	16047046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:16047046C>T	ENST00000419869.2	+	5	782	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*|STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein			15		Hepatocellular(102;0.121)			TGAGGATAAACAGATTCTTTC	0.348000																								0							SO:0001587	stop_gained			ENST00000419869.2	0	1	hg19	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	C	39	7.479135	0.98309	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	.	.	.	4.18	4.18	0.49190	.	0.054356	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.3112	17.0353	0.86473	0.0:1.0:0.0:0.0	.	.	.	.	X	63;170;157	.	ENSP00000025399:Q170X	Q	+	1	0	STRAP	15938313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.242000	0.78210	2.319000	0.78375	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	0	0	0	17	470	0	81	0	9.999965e-01	1	621	0	81	2		0	0	0	0	0	2	1	9.999605e-01	17	461	0	80	2								-3.882442	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.420000	0.250000	1.000000	0.410000	0.468362	0.420000	0	3.300000e-01	5.600000e-01
WNT5B	81029	broad.mit.edu	37	12	1741887	1741887	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1741887C>T	ENST00000397196.2	+	3	376	c.144C>T	c.(142-144)tgC>tgT	p.C48C	WNT5B_ENST00000537031.1_Silent_p.C48C|WNT5B_ENST00000310594.3_Silent_p.C48C|WNT5B_ENST00000542408.1_Silent_p.C48C	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B			1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)		AGCCCGTGTGCAGTCAGCTTC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000397196.2	1	1	hg19	CCDS8510.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2	1	0	1	117	720	0	155	0	5.178974e-01	1	11	0	155	2		0	0	0	0	0	2	1	1	115	711	0	153	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQSEC3	440073	broad.mit.edu	37	12	176596	176596	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:176596G>T	ENST00000538872.1	+	1	666	c.548G>T	c.(547-549)aGa>aTa	p.R183I	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3			35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)		CTGAGCAGGAGACCTGAGTGA	0.647000																								0							SO:0001583	missense			ENST00000538872.1	1	1	hg19	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	g	16.82	3.227833	0.58777	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.10192	2.9;2.9	4.28	4.28	0.50868	.	7.977520	0.00166	N	0.000000	T	0.20618	0.0496	L	0.51422	1.61	0.47994	D	0.999564	.	.	.	.	.	.	T	0.17899	-1.0354	8	0.46703	T	0.11	.	7.9494	0.30006	0.1103:0.0:0.8897:0.0	.	.	.	.	I	183	ENSP00000437554:R183I;ENSP00000315662:R183I	ENSP00000315662:R183I	R	+	2	0	IQSEC3	46857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.725000	0.68507	2.187000	0.69744	0.561000	0.74099	AGA		TCGA-IB-7651-01A-11D-2154-08	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	1	0	1	19	126	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999830e-01	16	114	0	37	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
RERGL	79785	broad.mit.edu	37	12	18234333	18234333	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18234333T>G	ENST00000229002.2	-	6	616	c.410A>C	c.(409-411)gAa>gCa	p.E137A	RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.E136A	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like			17					CTTTTGCCCTTCTTCCCAGCC	0.443000																								0							SO:0001583	missense			ENST00000229002.2	1	1	hg19	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576717	0.86645	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.79033	-1.23;-1.23	4.74	4.74	0.60224	.	0.052009	0.85682	D	0.000000	D	0.88808	0.6537	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.969;0.999	P;D	0.85130	0.868;0.997	D	0.90633	0.4568	10	0.72032	D	0.01	.	13.5615	0.61793	0.0:0.0:0.0:1.0	.	136;137	F5H686;Q9H628	.;RERGL_HUMAN	A	137;136	ENSP00000229002:E137A;ENSP00000437814:E136A	ENSP00000229002:E137A	E	-	2	0	RERGL	18125600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.905000	0.75714	2.073000	0.62155	0.456000	0.33151	GAA		TCGA-IB-7651-01A-11D-2154-08	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	1	0	1	72	421	0	73	0	2.200228e-02	0	2	0	73	2		0	0	0	0	0	2	1	1	70	412	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2G	5288	broad.mit.edu	37	12	18544112	18544112	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18544112A>G	ENST00000266497.5	+	13	1967	c.1929A>G	c.(1927-1929)agA>agG	p.R643R	PIK3C2G_ENST00000433979.1_Silent_p.R643R|PIK3C2G_ENST00000538779.1_Silent_p.R684R			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma			66		Hepatocellular(102;0.194)			AAGAGAATAGAAGTAATCTTG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000266497.5	1	1	hg19	CCDS44839.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	1	0	0	21	143	0	36	0	2.366421e-01	0	7	0	36	2		0	0	0	0	0	2	1	9.999985e-01	21	143	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.980000	1.000000	1.000000	0.997627	0.990000	1	9.900000e-01	1
PIK3C2G	5288	broad.mit.edu	37	12	18552635	18552635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18552635C>T	ENST00000266497.5	+	14	2084	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PIK3C2G_ENST00000433979.1_Silent_p.F682F|PIK3C2G_ENST00000538779.1_Silent_p.F723F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma			66		Hepatocellular(102;0.194)			TTTATCGCTTCTACTGCAATA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000266497.5	1	1	hg19	CCDS44839.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	1	0	1	69	298	0	73	1	3.195101e-01	5	1	0	73	2		0	0	0	0	0	2	1	1	69	291	0	72	2								-3.473595	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPZA3	93661	broad.mit.edu	37	12	18891240	18891240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891240G>T	ENST00000317658.3	+	1	196	c.38G>T	c.(37-39)aGa>aTa	p.R13I	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3			19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)			GACAAGGAAAGAGTAATTCGC	0.428000																								0							SO:0001583	missense			ENST00000317658.3	1	1	hg19	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093371	0.20471	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.07	-7.43	0.01383	.	0.512970	0.18368	N	0.143357	T	0.54983	0.1892	M	0.68952	2.095	0.37809	D	0.92797	B	0.32425	0.371	B	0.32677	0.15	T	0.51364	-0.8715	9	0.87932	D	0	-1.1445	15.5084	0.75760	0.7512:0.0:0.2488:0.0	.	13	Q96KX2	CAZA3_HUMAN	I	13	.	ENSP00000326238:R13I	R	+	2	0	CAPZA3	18782507	0.000000	0.05858	0.587000	0.28692	0.476000	0.33039	-2.225000	0.01212	-1.571000	0.01663	-1.008000	0.02478	AGA		TCGA-IB-7651-01A-11D-2154-08	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	1	0	0	18	380	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	1	9.999793e-01	17	372	0	71	2								-3.132862	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.550000	0.330000	1.000000	0.540000	0.584506	0.550000	0	4.300000e-01	7.200000e-01
CAPZA3	93661	broad.mit.edu	37	12	18891833	18891833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891833G>A	ENST00000317658.3	+	1	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3			19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)			GGACCTGAAAGAAAGCTTGGA	0.398000																								0							SO:0001583	missense			ENST00000317658.3	1	1	hg19	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941575	0.73557	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.298320	0.31123	N	0.008212	T	0.67599	0.2910	M	0.62723	1.935	0.44611	D	0.997587	P	0.51449	0.945	P	0.55055	0.767	T	0.70454	-0.4867	9	0.59425	D	0.04	-22.2472	14.7091	0.69215	0.0:0.0:1.0:0.0	.	211	Q96KX2	CAZA3_HUMAN	K	211	.	ENSP00000326238:E211K	E	+	1	0	CAPZA3	18783100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.119000	0.50422	2.498000	0.84270	0.462000	0.41574	GAA		TCGA-IB-7651-01A-11D-2154-08	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	1	0	1	52	182	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	52	179	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPZA3	93661	broad.mit.edu	37	12	18891950	18891950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891950G>A	ENST00000317658.3	+	1	906	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3			19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)			GTTATCCAATGAAGCCCTGAG	0.433000																								0							SO:0001583	missense			ENST00000317658.3	0	1	hg19	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201227	0.22121	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	2.65	0.31530	.	0.620826	0.14115	N	0.340444	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B	0.31413	0.322	B	0.29176	0.099	T	0.15009	-1.0452	9	0.59425	D	0.04	-11.4578	8.1429	0.31093	0.0:0.32:0.5157:0.1643	.	250	Q96KX2	CAZA3_HUMAN	K	250	.	ENSP00000326238:E250K	E	+	1	0	CAPZA3	18783217	0.827000	0.29292	0.307000	0.25127	0.631000	0.37964	2.406000	0.44557	1.141000	0.42275	0.462000	0.41574	GAA		TCGA-IB-7651-01A-11D-2154-08	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	0	0	0	8	303	1	48		0	0	0	1	48	2		0	0	0	0	0	2	0	1.293680e-02	7	296	1	48	20								-8.638548	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.320000	0.150000	1.000000	0.310000	0.378212	0.320000	0	2.200000e-01	4.800000e-01
AEBP2	121536	broad.mit.edu	37	12	19615452	19615452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19615452G>A	ENST00000398864.3	+	2	706	c.680G>A	c.(679-681)aGt>aAt	p.S227N	AEBP2_ENST00000266508.9_Missense_Mutation_p.S227N|AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S11N	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2			1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)				AGCATAAGCAGTACTATAATG	0.343000																								0							SO:0001583	missense			ENST00000398864.3	0	1	hg19	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791578	0.90367	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;T	0.92495	-3.05;-3.05;-0.45	5.55	5.55	0.83447	.	.	.	.	.	D	0.93455	0.7912	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.93912	0.7198	9	0.66056	D	0.02	0.2426	19.6941	0.96016	0.0:0.0:1.0:0.0	.	227	Q6ZN18	AEBP2_HUMAN	N	227;161;227;11	ENSP00000381840:S227N;ENSP00000266508:S227N;ENSP00000354267:S11N	ENSP00000266508:S227N	S	+	2	0	AEBP2	19506719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.885000	0.99019	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	0	0	0	13	61	0	16	1	9.948017e-01	6	40	0	16	2		0	0	0	0	0	2	1	9.996389e-01	13	59	0	16	2								-19.999840	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999027	0.990000	1	9.900000e-01	1
AEBP2	121536	broad.mit.edu	37	12	19671045	19671045	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19671045G>A	ENST00000398864.3	+	8	1532	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	AEBP2_ENST00000266508.9_Silent_p.K502K|AEBP2_ENST00000541908.1_Silent_p.K273K|AEBP2_ENST00000360995.4_Silent_p.K286K	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2			1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)				AGAGGTTGAAGAGGTAAAAAA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000398864.3	0	1	hg19	CCDS44841.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	1	0	1	7	50	0	13	1	9.965628e-01	14	70	0	13	2		0	0	0	0	0	2	1	9.829487e-01	7	50	0	13	2								-13.556580	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.660000	1.000000	1.000000	0.971536	0.990000	1	9.900000e-01	1
CACNA2D4	93589	broad.mit.edu	37	12	1992050	1992050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1992050C>T	ENST00000382722.5	-	13	1830	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4			39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)		TCCATGTAGGCCTCTGTCCAG	0.587000													Colon(2;101 179 21030 23310 28141)											0							SO:0001583	missense			ENST00000382722.5	0	1	hg19	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211218	0.95069	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.08102	3.13	5.29	5.29	0.74685	Cache (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.97110	0.941;1.0	T	0.00948	-1.1504	10	0.59425	D	0.04	.	18.9435	0.92612	0.0:1.0:0.0:0.0	.	490;490	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	T	426;490;490	ENSP00000372169:A490T	ENSP00000280663:A490T	A	-	1	0	CACNA2D4	1862311	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.457000	0.83068	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2	1	0	1	19	121	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.999933e-01	19	119	0	10	2								-11.211860	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.910000	1.000000	1.000000	0.995184	0.990000	1	9.900000e-01	1
PDE3A	5139	broad.mit.edu	37	12	20522684	20522684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20522684C>T	ENST00000359062.3	+	1	506	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited			58	Esophageal squamous(101;0.125)	Breast(259;0.134)		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGCCGGGGTGCGCCTGCCTCT	0.697000																								0							SO:0001583	missense			ENST00000359062.3	1	1	hg19	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601857	0.66445	.	.	ENSG00000172572	ENST00000359062	T	0.64085	-0.08	5.21	4.29	0.51040	.	0.996761	0.08141	N	0.991574	T	0.48259	0.1490	N	0.19112	0.55	0.48975	D	0.999733	D	0.55385	0.971	B	0.36666	0.23	T	0.45673	-0.9245	10	0.59425	D	0.04	.	14.7641	0.69626	0.1554:0.8446:0.0:0.0	.	156	Q14432	PDE3A_HUMAN	C	156	ENSP00000351957:R156C	ENSP00000351957:R156C	R	+	1	0	PDE3A	20413951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.950000	0.56676	1.106000	0.41623	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	0	34	155	0	27	0	0	0	1	0	27	2		0	0	0	0	0	2	1	1	34	150	0	27	2								-3.152308	1	1	120142	1	33	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PDE3A	5139	broad.mit.edu	37	12	20523167	20523167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20523167C>T	ENST00000359062.3	+	1	989	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited			58	Esophageal squamous(101;0.125)	Breast(259;0.134)		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCCCTGTATACCGAGGGAACA	0.607000																								0							SO:0001583	missense			ENST00000359062.3	1	1	hg19	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739562	0.49045	.	.	ENSG00000172572	ENST00000359062	T	0.58358	0.34	4.58	4.58	0.56647	.	1.848920	0.02208	N	0.062869	T	0.37100	0.0991	N	0.16368	0.405	0.36182	D	0.849498	B	0.24132	0.098	B	0.17979	0.02	T	0.34675	-0.9819	10	0.02654	T	1	.	11.1176	0.48270	0.0:0.914:0.0:0.086	.	317	Q14432	PDE3A_HUMAN	S	317	ENSP00000351957:P317S	ENSP00000351957:P317S	P	+	1	0	PDE3A	20414434	0.997000	0.39634	0.983000	0.44433	0.938000	0.57974	5.258000	0.65479	2.529000	0.85273	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1	41	157	0	25	0	9.935079e-01	0	33	0	25	2		0	0	0	0	0	2	1	1	41	155	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCP1B	196513	broad.mit.edu	37	12	2055426	2055426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2055426G>A	ENST00000280665.6	-	9	1879	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DCP1B_ENST00000397173.4_Silent_p.I498I	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B			24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)		AGGCTTCATAGATTATATTTA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000280665.6	1	1	hg19	CCDS31727.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	1	23	199	0	31	1	8.840806e-01	3	32	0	31	2		0	0	0	0	0	2	1	9.999995e-01	23	197	0	31	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.760000	1.000000	1.000000	0.975692	0.990000	1	9.400000e-01	1
DCP1B	196513	broad.mit.edu	37	12	2062076	2062076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062076G>A	ENST00000280665.6	-	7	1109	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C|DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B			24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)		TGTACACCACGAGAAGTTCCA	0.507000																								0							SO:0001583	missense			ENST00000280665.6	1	1	hg19	CCDS31727.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.968	0.972216	0.18736	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18960	2.19;2.19;2.18	4.74	0.415	0.16411	.	0.779686	0.12137	N	0.496205	T	0.08980	0.0222	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.30238	-0.9985	10	0.49607	T	0.09	0.9252	8.1297	0.31020	0.4662:0.0:0.5338:0.0	.	242;344	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	C	344;242;218	ENSP00000280665:R344C;ENSP00000380358:R242C;ENSP00000444374:R218C	ENSP00000280665:R344C	R	-	1	0	DCP1B	1932337	0.010000	0.17322	0.000000	0.03702	0.005000	0.04900	0.617000	0.24359	-0.104000	0.12154	-0.137000	0.14449	CGT		TCGA-IB-7651-01A-11D-2154-08	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	1	87	311	0	95	1	9.995171e-01	7	36	0	95	2		0	0	0	0	0	2	1	1	86	305	0	94	2								-3.493171	1	1	121412	7	40	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCP1B	196513	broad.mit.edu	37	12	2062369	2062369	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062369G>T	ENST00000280665.6	-	7	816	c.737C>A	c.(736-738)cCt>cAt	p.P246H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H|DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B			24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)		AGTCTGCGGAGGCTCCACAGT	0.527000																								0							SO:0001583	missense			ENST00000280665.6	1	1	hg19	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329106	0.24167	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23147	2.01;1.99;1.92	4.93	-0.695	0.11291	.	0.896531	0.09811	N	0.752777	T	0.13072	0.0317	N	0.21448	0.665	0.09310	N	1	B;B	0.17038	0.003;0.02	B;B	0.16722	0.005;0.016	T	0.31696	-0.9934	10	0.31617	T	0.26	-0.0327	1.402	0.02273	0.2313:0.1138:0.3995:0.2554	.	144;246	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	246;144;120	ENSP00000280665:P246H;ENSP00000380358:P144H;ENSP00000444374:P120H	ENSP00000280665:P246H	P	-	2	0	DCP1B	1932630	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.047000	0.14056	0.012000	0.14892	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	1	55	230	0	57	1	9.998334e-01	14	43	0	57	2		0	0	0	0	0	2	1	9.999996e-01	55	226	1	56	17								-20.000000	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCP1B	196513	broad.mit.edu	37	12	2064720	2064720	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2064720T>C	ENST00000280665.6	-	6	608	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A|DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B			24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)		TCAGAACAGGTTTTACACTGA	0.353000																								0							SO:0001583	missense			ENST00000280665.6	1	1	hg19	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532341	0.64972	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.18502	2.22;2.21;2.21	5.73	3.21	0.36854	.	0.236512	0.43919	D	0.000515	T	0.12135	0.0295	L	0.57536	1.79	0.32763	N	0.504865	P;B	0.38788	0.647;0.278	B;B	0.30179	0.091;0.112	T	0.18650	-1.0330	10	0.42905	T	0.14	-21.607	3.3778	0.07243	0.1345:0.0739:0.1399:0.6516	.	75;177	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	A	177;75;51	ENSP00000280665:T177A;ENSP00000380358:T75A;ENSP00000444374:T51A	ENSP00000280665:T177A	T	-	1	0	DCP1B	1934981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.953000	0.29162	0.978000	0.38470	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	1	0	1	82	515	0	99	1	9.992593e-01	13	55	0	99	2		0	0	0	0	0	2	1	1	80	508	0	98	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PDE3A	5139	broad.mit.edu	37	12	20769306	20769306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20769306C>T	ENST00000359062.3	+	4	1452	c.1412C>T	c.(1411-1413)gCa>gTa	p.A471V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited			58	Esophageal squamous(101;0.125)	Breast(259;0.134)		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGCAGGAAGCACCTTCATCC	0.512000																								0							SO:0001583	missense			ENST00000359062.3	1	1	hg19	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495797	0.12762	.	.	ENSG00000172572	ENST00000359062	T	0.53640	0.61	5.26	4.3	0.51218	.	14.108600	0.00166	N	0.000000	T	0.40595	0.1123	L	0.38838	1.175	0.09310	N	1	P	0.46064	0.872	B	0.34418	0.182	T	0.48670	-0.9015	10	0.17832	T	0.49	.	15.6368	0.76961	0.0:0.8625:0.1375:0.0	.	471	Q14432	PDE3A_HUMAN	V	471	ENSP00000351957:A471V	ENSP00000351957:A471V	A	+	2	0	PDE3A	20660573	0.082000	0.21442	0.990000	0.47175	0.048000	0.14542	3.375000	0.52410	2.616000	0.88540	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	0	74	335	0	63	0	9.888325e-01	0	34	0	63	2		0	0	0	0	0	2	1	1	74	330	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE3A	5139	broad.mit.edu	37	12	20790055	20790055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20790055G>A	ENST00000359062.3	+	9	2063	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited			58	Esophageal squamous(101;0.125)	Breast(259;0.134)		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTTGCTCCCGAACCTCTTGT	0.338000																								0							SO:0001583	missense			ENST00000359062.3	1	1	hg19	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063574	0.93898	.	.	ENSG00000172572	ENST00000359062	T	0.63255	-0.03	4.79	4.79	0.61399	.	0.000000	0.42964	U	0.000636	T	0.73961	0.3654	L	0.46157	1.445	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.72805	-0.4182	10	0.39692	T	0.17	.	18.0307	0.89283	0.0:0.0:1.0:0.0	.	675	Q14432	PDE3A_HUMAN	K	675	ENSP00000351957:E675K	ENSP00000351957:E675K	E	+	1	0	PDE3A	20681322	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.963000	0.76055	2.487000	0.83934	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1	36	199	0	44	0	9.443879e-01	0	29	0	44	2		0	0	0	0	0	2	1	1	35	197	0	43	2								-3.034409	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
PDE3A	5139	broad.mit.edu	37	12	20832995	20832995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20832995C>T	ENST00000359062.3	+	16	3256	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited			58	Esophageal squamous(101;0.125)	Breast(259;0.134)		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GAAAAATCTACTGCCAAATAA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000359062.3	1	1	hg19	CCDS31754.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	0	35	242	0	88	0	9.467516e-01	0	36	0	88	2		0	0	0	0	0	2	1	1	33	235	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999505	0.990000	1	9.900000e-01	1
SLCO1C1	53919	broad.mit.edu	37	12	20890164	20890164	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20890164T>C	ENST00000266509.2	+	11	1874	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000545604.1_Silent_p.C502C|SLCO1C1_ENST00000381552.1_Silent_p.C502C|SLCO1C1_ENST00000540354.1_Silent_p.C453C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1			60	Esophageal squamous(101;0.149)			Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TATCAGCTTGTCTTGCTGGTT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000266509.2	1	1	hg19	CCDS8683.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	1	0	1	74	316	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	74	314	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO1B1	10599	broad.mit.edu	37	12	21294592	21294592	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21294592G>T	ENST00000256958.2	+	2	180	c.84G>T	c.(82-84)aaG>aaT	p.K28N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1			70				Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ATGGATTGAAGGTAGAATAAG	0.274000																								0							SO:0001630	splice_region_variant			ENST00000256958.2	1	0	hg19	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.825208	0.32237	.	.	ENSG00000134538	ENST00000256958	T	0.58940	0.3	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);	0.477998	0.22930	N	0.053920	T	0.75191	0.3816	M	0.85099	2.735	0.39922	D	0.974171	D	0.64830	0.994	D	0.70487	0.969	T	0.79855	-0.1627	10	0.87932	D	0	.	10.8585	0.46812	0.0:0.0:1.0:0.0	.	28	Q9Y6L6	SO1B1_HUMAN	N	28	ENSP00000256958:K28N	ENSP00000256958:K28N	K	+	3	2	SLCO1B1	21185859	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	3.719000	0.54926	2.255000	0.74692	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	1	0	0	16	174	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	9.999353e-01	15	171	0	64	2								-2.966647	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.600000	1.000000	1.000000	0.923373	0.990000	1	7.900000e-01	1
SLCO1B1	10599	broad.mit.edu	37	12	21355541	21355541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21355541T>C	ENST00000256958.2	+	10	1348	c.1252T>C	c.(1252-1254)Tca>Cca	p.S418P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1			70				Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGCTGTGATGTCATTGTCCTT	0.323000																								0							SO:0001583	missense			ENST00000256958.2	1	1	hg19	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309843	0.40895	.	.	ENSG00000134538	ENST00000256958	T	0.60040	0.22	2.96	-5.92	0.02261	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.033120	0.07725	N	0.944329	T	0.69611	0.3130	M	0.75447	2.3	0.09310	N	1	P	0.38335	0.627	P	0.62649	0.905	T	0.70568	-0.4836	10	0.59425	D	0.04	.	5.6126	0.17414	0.4594:0.0:0.3794:0.1612	.	418	Q9Y6L6	SO1B1_HUMAN	P	418	ENSP00000256958:S418P	ENSP00000256958:S418P	S	+	1	0	SLCO1B1	21246808	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.081000	0.03403	-1.656000	0.01495	0.254000	0.18369	TCA		TCGA-IB-7651-01A-11D-2154-08	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	1	0	1	53	183	0	40	0	0	0	1	0	40	2		0	0	0	0	0	2	1	1	52	179	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO1A2	6579	broad.mit.edu	37	12	21459897	21459897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21459897C>T	ENST00000307378.6	-	6	1081	c.361G>A	c.(361-363)Gtt>Att	p.V121I	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2			48				Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTGCCTGAAACTGAAACTGTA	0.363000																								0							SO:0001583	missense			ENST00000307378.6	1	1	hg19	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086598	0.20390	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.2	-0.183	0.13284	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.090680	0.00357	N	0.000022	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.005;0.007;0.001	B;B;B	0.12837	0.006;0.004;0.008	T	0.08046	-1.0741	10	0.20046	T	0.44	.	4.7947	0.13267	0.0:0.4951:0.1738:0.3311	.	101;119;121	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	I	121;121;119;121;121	ENSP00000305974:V121I;ENSP00000393973:V121I;ENSP00000375088:V119I;ENSP00000416190:V121I;ENSP00000409314:V121I	ENSP00000305974:V121I	V	-	1	0	SLCO1A2	21351164	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	0.388000	0.20735	0.075000	0.16796	0.557000	0.71058	GTT		TCGA-IB-7651-01A-11D-2154-08	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	1	0	1	40	237	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	40	230	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
SLCO1A2	6579	broad.mit.edu	37	12	21487720	21487720	+	Translation_Start_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21487720A>C	ENST00000452078.1	-	0	112				SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000390670.3_5'Flank	NM_021094.3	NP_066580.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2			48				Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	AAGTGCTGAAAATGAACAACA	0.284000																								0											ENST00000452078.1	0	1	hg19	CCDS8686.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLCO1A2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	14	54	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.998474e-01	14	53	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999755	0.990000	1	9.900000e-01	1
IAPP	3375	broad.mit.edu	37	12	21526313	21526313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21526313C>A	ENST00000240652.3	+	2	164	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|IAPP_ENST00000542023.1_Missense_Mutation_p.L10I|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide			3					GCAAGTATTTCTCATTGTGCT	0.358000																								0							SO:0001583	missense			ENST00000240652.3	1	1	hg19	CCDS8688.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567065	0.28003	.	.	ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000542023;ENST00000537593	T;T;T	0.81330	-1.47;-1.47;-1.48	5.77	1.83	0.25207	.	0.321986	0.27802	N	0.017788	T	0.65228	0.2671	.	.	.	0.09310	N	1	P	0.37441	0.595	B	0.34931	0.192	T	0.57533	-0.7795	9	0.48119	T	0.1	-8.54	3.3808	0.07254	0.1873:0.4984:0.0:0.3143	.	10	P10997	IAPP_HUMAN	I	10	ENSP00000437357:L10I;ENSP00000240652:L10I;ENSP00000445980:L10I	ENSP00000240652:L10I	L	+	1	0	IAPP	21417580	0.443000	0.25641	0.002000	0.10522	0.009000	0.06853	0.956000	0.29202	0.747000	0.32809	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	1	0	1	67	285	0	73	0	7.758818e-01	0	14	0	73	2		0	0	0	0	0	2	1	1	67	284	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYROXD1	79912	broad.mit.edu	37	12	21598390	21598390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21598390G>T	ENST00000240651.9	+	3	329	c.275G>T	c.(274-276)aGt>aTt	p.S92I	PYROXD1_ENST00000538582.1_Missense_Mutation_p.S21I|PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1			18					CAACTGAAGAGTGAAGAACAC	0.363000																								0							SO:0001583	missense			ENST00000240651.9	0	1	hg19	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208227	0.39003	.	.	ENSG00000121350	ENST00000545178;ENST00000240651;ENST00000538582	T;T;T	0.47869	0.85;0.85;0.83	5.3	4.36	0.52297	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.168957	0.64402	D	0.000004	T	0.47619	0.1455	M	0.64567	1.98	0.52501	D	0.999955	B	0.25272	0.122	B	0.29176	0.099	T	0.43180	-0.9407	10	0.19147	T	0.46	.	17.5454	0.87859	0.0:0.1342:0.8658:0.0	.	92	Q8WU10	PYRD1_HUMAN	I	92;92;21	ENSP00000443912:S92I;ENSP00000240651:S92I;ENSP00000438505:S21I	ENSP00000240651:S92I	S	+	2	0	PYROXD1	21489657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.707000	0.61852	2.463000	0.83235	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	1	0	1	20	144	0	19	1	9.661249e-01	11	32	0	19	2		0	0	0	0	0	2	1	9.999964e-01	20	142	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.920000	1.000000	1.000000	0.995646	0.990000	1	9.900000e-01	1
RECQL	5965	broad.mit.edu	37	12	21624421	21624421	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21624421T>C	ENST00000444129.2	-	13	2076	c.1608A>G	c.(1606-1608)acA>acG	p.T536T	RECQL_ENST00000421138.2_Silent_p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like			17					CACGAGGAAGTGTGGGAGCCA	0.398000								Other identified genes with known or suspected DNA repair function																0							SO:0001819	synonymous_variant			ENST00000444129.2	1	1	hg19	CCDS31756.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	1	0	1	88	367	0	87	1	1	44	212	0	87	2		0	0	0	0	0	2	1	1	89	363	0	85	2								-3.049287	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RECQL	5965	broad.mit.edu	37	12	21644468	21644468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21644468C>T	ENST00000444129.2	-	3	667	c.199G>A	c.(199-201)Gct>Act	p.A67T	RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like			17					TTATTCCAAGCGGCAGGTGAA	0.323000								Other identified genes with known or suspected DNA repair function																0							SO:0001583	missense			ENST00000444129.2	1	1	hg19	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.475014	0.12521	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240;ENST00000536964;ENST00000539672	T;T;T;T;T;T	0.76448	-1.02;-1.02;0.75;0.75;-0.05;0.94	4.45	-1.07	0.09968	.	0.791130	0.11811	N	0.527132	T	0.65739	0.2720	L	0.57536	1.79	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47522	-0.9111	10	0.14252	T	0.57	-12.6805	4.7242	0.12933	0.2271:0.4814:0.0:0.2915	.	67	P46063	RECQ1_HUMAN	T	67	ENSP00000416739:A67T;ENSP00000395449:A67T;ENSP00000379400:A67T;ENSP00000318727:A67T;ENSP00000445555:A67T;ENSP00000439069:A67T	ENSP00000318727:A67T	A	-	1	0	RECQL	21535735	0.001000	0.12720	0.341000	0.25589	0.987000	0.75469	0.075000	0.14686	-0.086000	0.12550	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	1	0	1	44	174	0	41	1	1	27	144	0	41	2		0	0	0	0	0	2	1	1	40	160	0	38	2								-3.572208	1	1	121402	12	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLT1B	51026	broad.mit.edu	37	12	21659878	21659878	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21659878T>G	ENST00000229314.5	+	2	194	c.85T>G	c.(85-87)Ttt>Gtt	p.F29V	GOLT1B_ENST00000542038.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B			5					AATGATTCTCTTTTTTGACAA	0.274000																								0							SO:0001583	missense			ENST00000229314.5	1	1	hg19	CCDS8689.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928820	0.73327	.	.	ENSG00000111711	ENST00000540141;ENST00000229314	T;T	0.39056	1.1;1.1	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.84433	2.695	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	T	0.72211	-0.4359	10	0.72032	D	0.01	-6.893	15.3788	0.74637	0.0:0.0:0.0:1.0	.	29	Q9Y3E0	GOT1B_HUMAN	V	29	ENSP00000437351:F29V;ENSP00000229314:F29V	ENSP00000229314:F29V	F	+	1	0	GOLT1B	21551145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.213000	0.71641	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402384.2	1	0	1	81	311	0	50	1	1	56	158	0	50	2		0	0	0	0	0	2	1	1	80	305	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GYS2	2998	broad.mit.edu	37	12	21690005	21690005	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21690005A>G	ENST00000261195.2	-	16	2249	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)			48					CGTATCTCTCATCCTCCACTT	0.483000													Colon(149;9 1820 3690 10544 50424)											0							SO:0001819	synonymous_variant			ENST00000261195.2	1	1	hg19	CCDS8690.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	1	0	1	75	288	0	65	0	4.380567e-02	0	2	0	65	2		0	0	0	0	0	2	1	1	73	284	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LDHB	3945	broad.mit.edu	37	12	21795006	21795006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21795006C>T	ENST00000396076.1	-	5	807	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B			26					CTTCCAATCACGCGGTGTTTG	0.398000																								0							SO:0001583	missense			ENST00000396076.1	1	1	hg19	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516070	0.85495	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.054730	0.64402	D	0.000001	D	0.95971	0.8688	H	0.98048	4.135	0.80722	D	1	P	0.49358	0.923	P	0.47402	0.546	D	0.96827	0.9608	10	0.87932	D	0	.	13.0855	0.59138	0.0:0.9268:0.0:0.0732	.	159	P07195	LDHB_HUMAN	M	159	ENSP00000379386:V159M;ENSP00000229319:V159M;ENSP00000379385:V159M	ENSP00000229319:V159M	V	-	1	0	LDHB	21686273	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.076000	0.71267	2.679000	0.91253	0.644000	0.83932	GTG		TCGA-IB-7651-01A-11D-2154-08	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	1	0	1	81	349	0	78	1	1	14	772	0	78	2		0	0	0	0	0	2	1	1	81	341	0	78	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNJ8	3764	broad.mit.edu	37	12	21926289	21926289	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21926289C>T	ENST00000240662.2	-	2	607	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8			28				Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CACATGATAGCGAAGAGCAGC	0.517000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000240662.2	1	1	hg19	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153019	0.94645	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.94576	-3.46;-3.46	4.44	4.44	0.53790	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97436	0.9161	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98397	1.0566	10	0.87932	D	0	.	17.2713	0.87103	0.0:1.0:0.0:0.0	.	88	Q15842	IRK8_HUMAN	T	88	ENSP00000240662:A88T;ENSP00000440012:A88T	ENSP00000240662:A88T	A	-	1	0	KCNJ8	21817556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.303000	0.77524	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	1	0	1	78	414	0	77	0	9.736066e-01	0	33	0	77	2		0	0	0	0	0	2	1	1	78	402	0	76	2								-3.323291	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC9	10060	broad.mit.edu	37	12	21958192	21958192	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21958192A>G	ENST00000261201.4	-	38	4565	c.4566T>C	c.(4564-4566)ggT>ggC	p.G1522G	ABCC9_ENST00000345162.2_Silent_p.G1486G|ABCC9_ENST00000261200.4_Intron	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9			118				Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCACTAAAATACCCTCAGAAA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000261201.4	1	1	hg19	CCDS8694.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	0	0	0	6	207	1	50		0	0	0	1	50	2		0	0	0	0	0	2	0	3.141696e-02	6	203	1	50	15								-3.411235	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.360000	0.150000	1.000000	0.330000	0.417221	0.360000	0	2.400000e-01	5.600000e-01
ABCC9	10060	broad.mit.edu	37	12	21998636	21998636	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21998636G>A	ENST00000261201.4	-	24	2996	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.F963F|ABCC9_ENST00000261200.4_Silent_p.F999F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9			118				Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAGCTTAGAGAAAATCATCA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000261201.4	1	1	hg19	CCDS8694.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	1	0	1	35	209	0	63	0	6.591275e-01	0	15	0	63	2		0	0	0	0	0	2	1	1	35	204	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
ST8SIA1	6489	broad.mit.edu	37	12	22486947	22486947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22486947C>T	ENST00000396037.4	-	1	701	c.220G>A	c.(220-222)Gcg>Acg	p.A74T	ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1			25					GCTCTGGCCGCGGTCTGGTTC	0.652000																								0							SO:0001583	missense			ENST00000396037.4	1	1	hg19	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371959	0.42003	.	.	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.66460	-0.21;-0.21	4.45	3.53	0.40419	.	0.118546	0.56097	D	0.000031	T	0.55242	0.1908	L	0.48642	1.525	0.80722	D	1	P	0.42248	0.774	B	0.35312	0.2	T	0.59188	-0.7501	10	0.56958	D	0.05	-7.0017	11.121	0.48289	0.192:0.808:0.0:0.0	.	74	Q92185	SIA8A_HUMAN	T	74;51;74;74	ENSP00000379353:A74T;ENSP00000440292:A51T	ENSP00000261197:A74T	A	-	1	0	ST8SIA1	22378214	0.999000	0.42202	0.979000	0.43373	0.973000	0.67179	4.695000	0.61767	1.131000	0.42111	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	1	0	1	84	354	0	78	0	0	0	1	0	78	2		0	0	0	0	0	2	1	1	82	350	0	77	2								-20.000000	1	1	121408	1	25	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST8SIA1	6489	broad.mit.edu	37	12	22487118	22487118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22487118C>T	ENST00000396037.4	-	1	530	c.49G>A	c.(49-51)Gct>Act	p.A17T	ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1			25					GCCAGTACAGCCATGGCCCCT	0.701000																								0							SO:0001583	missense			ENST00000396037.4	1	1	hg19	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315728	0.60524	.	.	ENSG00000111728	ENST00000396037;ENST00000404299;ENST00000381424	T	0.27256	1.68	4.39	4.39	0.52855	.	0.168872	0.41097	D	0.000955	T	0.28101	0.0693	L	0.44542	1.39	0.80722	D	1	P	0.51791	0.948	P	0.45610	0.487	T	0.07501	-1.0769	10	0.87932	D	0	-12.5297	14.6168	0.68556	0.0:1.0:0.0:0.0	.	17	Q92185	SIA8A_HUMAN	T	17	ENSP00000379353:A17T	ENSP00000261197:A17T	A	-	1	0	ST8SIA1	22378385	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.223000	0.42936	2.397000	0.81536	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	1	0	0	108	416	0	73	0	0	0	1	0	73	2		0	0	0	0	0	2	1	1	105	410	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOX5	6660	broad.mit.edu	37	12	23716316	23716316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23716316G>T	ENST00000451604.2	-	11	1465	c.1364C>A	c.(1363-1365)gCt>gAt	p.A455D	SOX5_ENST00000546136.1_Missense_Mutation_p.A442D|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000309359.1_Missense_Mutation_p.A442D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5			57					CTTGGTGACAGCATCATGGTC	0.428000																								0							SO:0001583	missense			ENST00000451604.2	1	1	hg19	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206963	0.79127	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.996;0.992;0.999	D;P;D	0.85130	0.931;0.856;0.997	T	0.74645	-0.3596	10	0.87932	D	0	.	15.1758	0.72910	0.0671:0.0:0.9328:0.0	.	420;455;69	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	D	442;442;455;407;420;69;445	ENSP00000437487:A442D;ENSP00000308927:A442D;ENSP00000398273:A455D;ENSP00000439832:A420D;ENSP00000379328:A69D;ENSP00000443520:A445D	ENSP00000308927:A442D	A	-	2	0	SOX5	23607583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.458000	0.97634	1.558000	0.49541	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	1	0	1	113	497	0	102	0	1.606242e-01	0	4	0	102	2		0	0	0	0	0	2	1	1	112	484	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOX5	6660	broad.mit.edu	37	12	23893858	23893858	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23893858G>T	ENST00000451604.2	-	5	785	c.684C>A	c.(682-684)gcC>gcA	p.A228A	SOX5_ENST00000546136.1_Silent_p.A215A|SOX5_ENST00000381381.2_Silent_p.A215A|SOX5_ENST00000545921.1_Silent_p.A218A|SOX5_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000541847.1_Silent_p.A218A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5			57					CAATCTGAGAGGCAGCTAGTT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000451604.2	1	1	hg19	CCDS8699.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	1	0	1	76	314	0	70	0	1.761288e-01	0	4	0	70	2		0	0	0	0	0	2	1	1	76	305	1	70	18								-3.379017	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOX5	6660	broad.mit.edu	37	12	24102519	24102519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:24102519T>C	ENST00000451604.2	-	1	118	c.17A>G	c.(16-18)gAt>gGt	p.D6G	SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5			57					CTGAGGTAAATCAGGGTCAGT	0.423000																								0							SO:0001583	missense			ENST00000451604.2	1	1	hg19	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	t	13.30	2.197084	0.38806	.	.	ENSG00000134532	ENST00000451604;ENST00000537393;ENST00000441133	D;D	0.97279	-4.27;-4.32	5.28	5.28	0.74379	.	0.193467	0.43110	D	0.000609	D	0.94142	0.8121	L	0.29908	0.895	0.80722	D	1	B;B	0.26445	0.149;0.083	B;B	0.30029	0.11;0.051	D	0.92567	0.6063	10	0.56958	D	0.05	.	13.747	0.62881	0.0:0.0:0.0:1.0	.	6;6	G3V0H1;P35711	.;SOX5_HUMAN	G	6	ENSP00000398273:D6G;ENSP00000439832:D6G	ENSP00000393240:D6G	D	-	2	0	SOX5	23993786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.689000	0.74562	2.125000	0.65367	0.524000	0.50904	GAT		TCGA-IB-7651-01A-11D-2154-08	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	0	0	0	10	295	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	9.967464e-01	10	290	0	66	2								-11.157330	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.410000	0.200000	1.000000	0.390000	0.455335	0.410000	0	2.900000e-01	5.800000e-01
BCAT1	586	broad.mit.edu	37	12	25031471	25031471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25031471C>T	ENST00000261192.7	-	5	1029	c.503G>A	c.(502-504)gGa>gAa	p.G168E	BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic			7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)			Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CACCTCAGTTCCAATGAATGT	0.378000																								0							SO:0001583	missense			ENST00000261192.7	1	1	hg19	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156952	0.78114	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.78595	1.92;1.92;1.92;1.92;1.92;-1.19	6.17	6.17	0.99709	.	0.055262	0.64402	D	0.000001	D	0.92941	0.7754	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.79784	0.982;0.988;0.982;0.993;0.988	D	0.94436	0.7654	10	0.87932	D	0	0.7255	19.6509	0.95805	0.0:1.0:0.0:0.0	.	131;180;107;168;167	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	E	168;167;107;180;131;144	ENSP00000261192:G168E;ENSP00000440817:G167E;ENSP00000339805:G107E;ENSP00000443459:G180E;ENSP00000440827:G131E;ENSP00000438593:G144E	ENSP00000261192:G168E	G	-	2	0	BCAT1	24922738	1.000000	0.71417	0.996000	0.52242	0.237000	0.25408	6.234000	0.72326	2.941000	0.99782	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	1	0	0	12	150	0	25	0	9.712848e-01	0	78	0	25	2		0	0	0	0	0	2	1	9.992318e-01	12	150	0	25	2								-16.569050	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.900000	0.490000	1.000000	1.000000	0.860908	0.900000	1	6.700000e-01	1
IQSEC3	440073	broad.mit.edu	37	12	250375	250375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:250375C>T	ENST00000538872.1	+	5	2195	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3			35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)		CCTCCTCCAGCGAAAGGGCCT	0.612000																								0							SO:0001587	stop_gained			ENST00000538872.1	0	1	hg19	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	40	8.302209	0.98750	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	.	.	.	5.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0142	0.64515	0.3356:0.6644:0.0:0.0	.	.	.	.	X	693;693;390	.	ENSP00000315662:R693X	R	+	1	2	IQSEC3	120636	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.531000	0.36018	2.763000	0.94921	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	1	0	1	64	451	0	125	0	3.144684e-01	0	9	0	125	2		0	0	0	0	0	2	1	1	63	444	0	124	2								-19.999960	1	1	121412	1	30	1						0.170000	2.060000									0	0
LRMP	4033	broad.mit.edu	37	12	25232195	25232195	+	Silent	SNP	C	C	T	rs114104872	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein			19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)				GTGTTGAACGCGTGTGTCCTG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000354454.3	1	1	hg19	CCDS8701.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	1	0	1	115	615	0	125	1	9.201481e-01	2	23	0	125	2		0	0	0	0	0	2	1	1	111	593	0	124	2								-20.000000	1	1	121412	40	49	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRMP	4033	broad.mit.edu	37	12	25232657	25232657	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232657G>T	ENST00000354454.3	+	8	1033	c.204G>T	c.(202-204)gaG>gaT	p.E68D	LRMP_ENST00000547044.1_Missense_Mutation_p.E68D|LRMP_ENST00000548766.1_Missense_Mutation_p.E68D	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein			19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)				GTAAGAAAGAGGAGGATACAA	0.403000																								0							SO:0001583	missense			ENST00000354454.3	1	1	hg19	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625834	0.46840	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000536173;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	4.61	-0.682	0.11339	.	0.705422	0.12924	N	0.427953	T	0.14527	0.0351	M	0.63428	1.95	0.09310	N	1	P	0.38711	0.643	B	0.37833	0.259	T	0.15809	-1.0424	10	0.30078	T	0.28	-2.9977	4.2181	0.10544	0.3862:0.1666:0.4471:0.0	.	124	Q12912	LRMP_HUMAN	D	68;68;68;15;68;68;68	ENSP00000448534:E68D;ENSP00000452116:E68D;ENSP00000346442:E68D;ENSP00000444056:E15D;ENSP00000446496:E68D;ENSP00000450634:E68D;ENSP00000450246:E68D	ENSP00000346442:E68D	E	+	3	2	LRMP	25123924	0.069000	0.21087	0.030000	0.17652	0.010000	0.07245	0.231000	0.17872	0.035000	0.15519	-0.827000	0.03088	GAG		TCGA-IB-7651-01A-11D-2154-08	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	1	0	1	48	270	0	62	1	9.339517e-01	2	26	0	62	2		0	0	0	0	0	2	1	1	48	266	0	61	2								-2.847766	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CASC1	55259	broad.mit.edu	37	12	25263104	25263104	+	Missense_Mutation	SNP	C	C	T	rs139550496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25263104C>T	ENST00000320267.9	-	14	1913	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	CASC1_ENST00000395987.3_Missense_Mutation_p.S617N|CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N|CASC1_ENST00000354189.5_Missense_Mutation_p.S675N	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1			31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		GTTCCACTTGCTCCAACCAAA	0.348000																								0							SO:0001583	missense			ENST00000320267.9	1	1	hg19	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418820	0.83559	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246	T;T;T;T;T	0.80566	-1.39;-0.45;-0.45;-0.99;-0.95	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.996;0.998	D	0.90453	0.4440	10	0.72032	D	0.01	-16.7377	17.6995	0.88290	0.0:1.0:0.0:0.0	.	499;552;675;611;617	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	N	675;617;611;571;499;552;421	ENSP00000346126:S675N;ENSP00000379310:S617N;ENSP00000313141:S611N;ENSP00000379313:S571N;ENSP00000437373:S552N	ENSP00000313141:S611N	S	-	2	0	CASC1	25154371	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.739000	0.68622	2.540000	0.85666	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	1	0	1	53	232	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	1	51	229	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	13	89	0	17	1	9.775702e-01	14	33	0	17	2	1	1	76	450	0	418	2	1	9.995158e-01	12	85	0	17	2								-8.892211	1	1	121404	2	44	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.860000	1.000000	1.000000	0.991831	0.990000	1	9.900000e-01	1
IFLTD1	0	broad.mit.edu	37	12	25699363	25699363	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25699363T>C	ENST00000282881.6	-	3	522	c.373A>G	c.(373-375)Aaa>Gaa	p.K125E	IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000539744.1_Missense_Mutation_p.K28E|IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN				22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)				TTTAAAGTTTTCTGAGTGTAG	0.358000																								0							SO:0001583	missense			ENST00000282881.6	1	1	hg19	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783311	0.31593	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	T;T;T;T;T	0.15718	2.61;2.66;2.61;2.63;2.4	4.9	2.19	0.27852	.	.	.	.	.	T	0.11750	0.0286	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.42941	0.458;0.794;0.793;0.689	B;B;B;B	0.42738	0.194;0.194;0.396;0.223	T	0.20505	-1.0273	9	0.25106	T	0.35	-14.7294	6.9359	0.24466	0.0:0.1707:0.0:0.8293	.	62;146;146;125	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	E	125;28;146;62;146;100;100	ENSP00000282881:K125E;ENSP00000443132:K28E;ENSP00000407353:K146E;ENSP00000407043:K62E;ENSP00000393150:K146E	ENSP00000282881:K125E	K	-	1	0	IFLTD1	25590630	0.014000	0.17966	0.018000	0.16275	0.004000	0.04260	1.174000	0.31932	0.326000	0.23384	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1	1	0	1	61	237	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	61	234	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFLTD1	0	broad.mit.edu	37	12	25702320	25702320	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25702320T>G	ENST00000282881.6	-	2	336	c.187A>C	c.(187-189)Act>Cct	p.T63P	IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN				22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)				AATTGTCCAGTTGTTGATATA	0.388000																								0							SO:0001583	missense			ENST00000282881.6	1	1	hg19	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	T	8.138	0.784586	0.16189	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632;ENST00000538178;ENST00000540106;ENST00000542224	T;T;T	0.14640	2.7;2.71;2.49	3.7	-3.36	0.04913	.	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34161	0.439;0.439;0.312	B;B;B	0.32762	0.152;0.152;0.072	T	0.32587	-0.9901	9	0.40728	T	0.16	-4.1793	4.3876	0.11325	0.17:0.4187:0.0:0.4113	.	84;84;63	Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;ILFT1_HUMAN	P	63;84;84;38;38;38	ENSP00000282881:T63P;ENSP00000407353:T84P;ENSP00000393150:T84P	ENSP00000282881:T63P	T	-	1	0	IFLTD1	25593587	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.468000	0.02350	-0.697000	0.05092	0.528000	0.53228	ACT		TCGA-IB-7651-01A-11D-2154-08	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1	1	0	1	31	151	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	31	149	0	65	2								-18.247650	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
RASSF8	11228	broad.mit.edu	37	12	26217586	26217586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26217586C>T	ENST00000405154.2	+	3	458	c.259C>T	c.(259-261)Cga>Tga	p.R87*	RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8			25	Colorectal(261;0.0847)				TCTCAGTGAGCGACCCACTTC	0.473000																								0							SO:0001587	stop_gained			ENST00000405154.2	0	1	hg19	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687605	0.68157	.	.	ENSG00000123094	ENST00000381352;ENST00000535907;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000542315;ENST00000541218;ENST00000282884;ENST00000545413;ENST00000541934	.	.	.	5.19	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1902	12.9569	0.58432	0.4002:0.5998:0.0:0.0	.	.	.	.	X	87	.	ENSP00000282884:R87X	R	+	1	2	RASSF8	26108853	0.999000	0.42202	0.998000	0.56505	0.500000	0.33767	0.663000	0.25053	1.319000	0.45190	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	1	0	1	140	505	0	137	1	9.999962e-01	5	61	0	137	2		0	0	0	0	0	2	1	1	135	493	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSPN	8082	broad.mit.edu	37	12	26348816	26348816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26348816G>A	ENST00000242729.2	+	1	388	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	SSPN_ENST00000535504.1_Missense_Mutation_p.G71S|SSPN_ENST00000422622.2_Intron|SSPN_ENST00000540266.1_Intron	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan			10	Colorectal(261;0.0847)				GACCGTGGTGGGCTTCCTCAT	0.642000																								0							SO:0001583	missense			ENST00000242729.2	0	1	hg19	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138322	0.77775	.	.	ENSG00000123096	ENST00000242729;ENST00000441067;ENST00000535504	T;T	0.04454	3.62;3.62	4.16	4.16	0.48862	.	0.060238	0.64402	D	0.000002	T	0.05044	0.0135	N	0.15975	0.35	0.43761	D	0.996276	P;P;P	0.51537	0.946;0.889;0.896	P;P;P	0.50314	0.637;0.526;0.548	T	0.52931	-0.8509	10	0.35671	T	0.21	-16.8356	9.7617	0.40537	0.0945:0.0:0.9055:0.0	.	71;71;71	F5H0K2;A1YBP2;Q14714	.;.;SSPN_HUMAN	S	71;45;71	ENSP00000242729:G71S;ENSP00000438801:G71S	ENSP00000242729:G71S	G	+	1	0	SSPN	26240083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	2.321000	0.78463	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	1	0	1	7	51	0	12	1	8.934318e-01	2	30	0	12	2		0	0	0	0	0	2	1	9.829058e-01	7	51	0	12	2								-14.038000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.650000	1.000000	1.000000	0.969642	0.990000	1	9.800000e-01	1
ITPR2	3709	broad.mit.edu	37	12	26636792	26636792	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26636792G>T	ENST00000381340.3	-	42	6267	c.5851C>A	c.(5851-5853)Cta>Ata	p.L1951I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2		ETV6/ITPR2(2)	125	Colorectal(261;0.0847)			Caffeine(DB00201)	TCACAGACTAGGTTGTAATTT	0.408000																								0							SO:0001583	missense			ENST00000381340.3	0	1	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.625897	0.87560	.	.	ENSG00000123104	ENST00000381340	D	0.95622	-3.76	5.17	4.26	0.50523	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95478	0.8558	10	0.34782	T	0.22	.	14.1395	0.65311	0.0732:0.0:0.9268:0.0	.	1951	Q14571	ITPR2_HUMAN	I	1951	ENSP00000370744:L1951I	ENSP00000370744:L1951I	L	-	1	2	ITPR2	26528059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.670000	0.83925	2.671000	0.90904	0.586000	0.80456	CTA		TCGA-IB-7651-01A-11D-2154-08	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	0	0	0	12	685	0	158	0	2.258370e-01	0	48	0	158	2		0	0	0	0	0	2	1	9.990048e-01	12	671	0	156	2								-2.531634	1	1	120804	1	34	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.210000	0.110000	1.000000	0.210000	0.269067	0.210000	0	1.500000e-01	3.000000e-01
ITPR2	3709	broad.mit.edu	37	12	26809444	26809444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26809444G>A	ENST00000381340.3	-	19	2646	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2		ETV6/ITPR2(2)	125	Colorectal(261;0.0847)			Caffeine(DB00201)	AGATACTGGCGATCCAAGCAC	0.448000																								0							SO:0001583	missense			ENST00000381340.3	1	1	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452183	0.84209	.	.	ENSG00000123104	ENST00000381340	D	0.95690	-3.78	4.62	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97990	1.0354	10	0.87932	D	0	.	14.7522	0.69533	0.0:0.0:0.8553:0.1447	.	744	Q14571	ITPR2_HUMAN	C	744	ENSP00000370744:R744C	ENSP00000370744:R744C	R	-	1	0	ITPR2	26700711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.546000	0.85860	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	1	0	0	23	250	0	56	1	8.046019e-01	3	32	0	56	2		0	0	0	0	0	2	1	9.999995e-01	23	249	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.660000	1.000000	1.000000	0.934117	0.990000	1	8.200000e-01	1
ITPR2	3709	broad.mit.edu	37	12	26816642	26816642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26816642C>T	ENST00000381340.3	-	15	2105	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2		ETV6/ITPR2(2)	125	Colorectal(261;0.0847)			Caffeine(DB00201)	AATCCTGCTGCGAGTGTCTCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000381340.3	1	1	hg19	CCDS41764.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	1	0	1	329	1348	0	283	1	9.915172e-01	6	26	0	283	2		0	0	0	0	0	2	1	1	322	1327	0	282	2								-20.000000	1	1	120824	14	48	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQSEC3	440073	broad.mit.edu	37	12	271138	271138	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:271138C>A	ENST00000538872.1	+	8	2608	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.I527I|IQSEC3_ENST00000326261.4_Silent_p.I830I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3			35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)		TGGTAGGCATCTATGAGAGGA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000538872.1	1	1	hg19	CCDS53728.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	1	0	0	27	101	0	34	0	4.622189e-01	0	7	0	34	2		0	0	0	0	0	2	1	1	26	98	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
FGFR1OP2	26127	broad.mit.edu	37	12	27116329	27116329	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27116329G>T	ENST00000229395.3	+	6	907	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.A151S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2			8	Colorectal(261;0.0847)				AATGAGGAAAGCCATTGAAAT	0.373000																								0							SO:0001583	missense			ENST00000229395.3	1	1	hg19	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	.	34	5.336050	0.95758	.	.	ENSG00000111790	ENST00000229395;ENST00000327214	.	.	.	5.22	5.22	0.72569	.	0.047999	0.85682	N	0.000000	D	0.83672	0.5305	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.985	D	0.84292	0.0500	9	0.52906	T	0.07	-24.0077	19.6699	0.95907	0.0:0.0:1.0:0.0	.	151;189	Q9NVK5-2;Q9NVK5	.;FGOP2_HUMAN	S	189;151	.	ENSP00000229395:A189S	A	+	1	0	FGFR1OP2	27007596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.971000	0.93419	2.817000	0.96982	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	1	0	1	47	168	0	37	1	1	28	108	0	37	2		0	0	0	0	0	2	1	1	47	163	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TM7SF3	51768	broad.mit.edu	37	12	27152544	27152544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27152544C>A	ENST00000343028.4	-	3	537	c.312G>T	c.(310-312)gaG>gaT	p.E104D	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3			18	Colorectal(261;0.0847)				ATGTACTCTGCTCTGGTCTAA	0.473000																								0							SO:0001583	missense			ENST00000343028.4	1	1	hg19	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211589	0.58452	.	.	ENSG00000064115	ENST00000343028;ENST00000512808;ENST00000545600	T	0.31510	1.49	4.41	3.45	0.39498	.	0.339974	0.32868	N	0.005544	T	0.22742	0.0549	L	0.53249	1.67	0.26920	N	0.966702	B	0.18863	0.031	B	0.10450	0.005	T	0.07121	-1.0789	10	0.18710	T	0.47	-13.2613	5.3827	0.16199	0.0:0.6159:0.1763:0.2078	.	104	Q9NS93	TM7S3_HUMAN	D	104;83;109	ENSP00000342322:E104D	ENSP00000342322:E104D	E	-	3	2	TM7SF3	27043811	0.985000	0.35326	1.000000	0.80357	0.981000	0.71138	0.065000	0.14466	2.459000	0.83118	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	1	0	1	65	270	0	68	1	1	51	215	0	68	2		0	0	0	0	0	2	1	1	65	266	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2717701	2717701	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2717701C>A	ENST00000347598.4	+	28	3441	c.3441C>A	c.(3439-3441)tcC>tcA	p.S1147S	CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000399655.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C-AS3_ENST00000543559.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATCGACTCCCACACGGAAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000347598.4	1	1	hg19	CCDS44788.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1	25	76	0	20	0	8.873707e-01	0	14	0	20	2		0	0	0	0	0	2	1	9.999999e-01	25	73	0	20	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2721099	2721099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2721099G>A	ENST00000347598.4	+	30	3808	c.3808G>A	c.(3808-3810)Gcc>Acc	p.A1270T	CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTCAAAATCGCCATGAACAT	0.567000																								0							SO:0001583	missense			ENST00000347598.4	1	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753981	0.89843	2.29E-4	0.0	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.2	4.29	0.51040	.	0.171847	0.51477	D	0.000090	D	0.96781	0.8949	L	0.28556	0.865	0.80722	D	1	D;D;P;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.922;1.0;0.999;1.0;1.0;0.996;0.88;0.999;1.0;0.607;0.999;1.0;0.999;1.0;0.901;1.0;0.585;1.0;1.0;1.0;1.0;0.998;1.0	D;D;B;D;D;D;D;D;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;P;D	0.87578	0.996;0.994;0.186;0.996;0.994;0.994;0.998;0.96;0.212;0.994;0.998;0.095;0.995;0.99;0.992;0.992;0.37;0.998;0.065;0.998;0.998;0.998;0.998;0.884;0.991	D	0.96515	0.9381	10	0.56958	D	0.05	.	13.4928	0.61407	0.0757:0.0:0.9243:0.0	.	1250;1247;1270;1250;1250;1250;1250;1250;1250;1270;1250;1221;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	1275;1250;1250;1250;1250;1250;1250;1250;1250;1250;1270;1270;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1250;1091	ENSP00000336982:A1275T;ENSP00000382563:A1250T;ENSP00000437936:A1250T;ENSP00000382552:A1250T;ENSP00000382547:A1250T;ENSP00000382506:A1250T;ENSP00000382530:A1250T;ENSP00000382546:A1250T;ENSP00000382500:A1250T;ENSP00000382549:A1250T;ENSP00000266376:A1270T;ENSP00000382515:A1270T;ENSP00000382510:A1250T;ENSP00000341092:A1250T;ENSP00000382537:A1250T;ENSP00000329877:A1250T;ENSP00000382557:A1250T;ENSP00000385724:A1250T;ENSP00000382512:A1250T;ENSP00000382542:A1250T;ENSP00000382526:A1250T;ENSP00000385896:A1250T;ENSP00000382504:A1250T	ENSP00000323129:A1091T	A	+	1	0	CACNA1C	2591360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.723000	0.68492	2.570000	0.86706	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1	22	186	0	46	0	7.588767e-01	0	25	0	46	2		0	0	0	0	0	2	1	9.999988e-01	21	182	0	46	2								-3.318872	1	1	121368	2	35	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.770000	1.000000	1.000000	0.977937	0.990000	1	9.600000e-01	1
C12orf71	728858	broad.mit.edu	37	12	27234975	27234975	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27234975C>T	ENST00000429849.2	-	1	472	c.442G>A	c.(442-444)Gat>Aat	p.D148N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71			8					ACAGCGTCATCATCTTTCAGA	0.418000																								0							SO:0001583	missense			ENST00000429849.2	0	1	hg19	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565368	0.27915	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.52983	0.64	3.22	2.32	0.28847	.	0.000000	0.32918	U	0.005496	T	0.24198	0.0586	N	0.11560	0.145	0.09310	N	1	B	0.30851	0.297	B	0.27170	0.077	T	0.16660	-1.0395	10	0.87932	D	0	-0.5384	6.3487	0.21363	0.0:0.8568:0.0:0.1432	.	148	A8MTZ7	CL071_HUMAN	N	148	ENSP00000413728:D148N	ENSP00000381796:D148N	D	-	1	0	C12orf71	27126242	0.000000	0.05858	0.006000	0.13384	0.100000	0.18952	0.242000	0.18087	0.689000	0.31550	0.511000	0.50034	GAT		TCGA-IB-7651-01A-11D-2154-08	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	0	0	1	4	33	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	8.940575e-01	4	33	0	11	2								-5.192893	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.460000	1.000000	1.000000	0.926281	0.990000	1	7.900000e-01	1
STK38L	23012	broad.mit.edu	37	12	27475324	27475324	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27475324A>C	ENST00000389032.3	+	14	1500	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like			12	Colorectal(261;0.0847)				TATACCTATAAAAGGTTTGAA	0.378000																								0							SO:0001583	missense			ENST00000389032.3	1	1	hg19	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441338	0.43326	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.53857	0.6;0.6	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.105878	0.64402	D	0.000008	T	0.77705	0.4170	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.984;0.99	D	0.83676	0.0169	10	0.87932	D	0	.	14.8942	0.70630	1.0:0.0:0.0:0.0	.	351;444	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	T	444;351	ENSP00000373684:K444T;ENSP00000446386:K351T	ENSP00000373684:K444T	K	+	2	0	STK38L	27366591	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	9.319000	0.96338	1.978000	0.57642	0.377000	0.23210	AAA		TCGA-IB-7651-01A-11D-2154-08	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	1	0	1	129	575	0	171	1	1	54	95	0	171	2		0	0	0	0	0	2	1	1	124	565	0	170	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQSEC3	440073	broad.mit.edu	37	12	274980	274980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:274980C>T	ENST00000538872.1	+	11	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.D662D|IQSEC3_ENST00000326261.4_Silent_p.D965D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3			35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)		TGGGCTCGGACGAGATGCAGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000538872.1	1	1	hg19	CCDS53728.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	1	0	0	51	203	0	66	0	5.672745e-01	0	9	0	66	2		0	0	0	0	0	2	1	1	49	201	0	66	2								-20.000000	1	1	121408	2	30	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2760913	2760913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2760913G>A	ENST00000347598.4	+	34	4197	c.4197G>A	c.(4195-4197)tgG>tgA	p.W1399*	CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTGCTGTGGACCTTCATCA	0.632000																								0							SO:0001587	stop_gained			ENST00000347598.4	0	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	42	9.355789	0.99147	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.17	4.27	0.50696	.	0.125129	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5755	0.61873	0.0758:0.0:0.9242:0.0	.	.	.	.	X	1376;1351;1351;1379;1351;1351;1351;1340;1351;1399;1371;1351;1373;1368;1351;1338;1351;1351;1351;1351;1351;1340;1181	.	ENSP00000323129:W1181X	W	+	3	0	CACNA1C	2631174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.805000	0.99149	1.171000	0.42768	0.491000	0.48974	TGG		TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1	20	200	0	28	1	8.976220e-01	10	32	0	28	2		0	0	0	0	0	2	1	9.999954e-01	20	195	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.650000	1.000000	1.000000	0.935699	0.990000	1	8.200000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2774091	2774091	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2774091A>C	ENST00000347598.4	+	37	4477	c.4477A>C	c.(4477-4479)Aca>Cca	p.T1493P	CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGGGTGAAACACCCTGTGG	0.587000																								0							SO:0001583	missense			ENST00000347598.4	1	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	5.093	0.202823	0.09652	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96365	-3.92;-3.92;-3.92;-3.88;-3.91;-3.93;-3.83;-3.88;-3.91;-3.81;-3.84;-3.92;-3.94;-3.83;-3.76;-3.99;-3.93;-3.91;-3.94;-3.85;-3.94;-3.99	4.07	-1.38	0.09027	Ion transport (1);	0.447550	0.25619	N	0.029437	D	0.88153	0.6360	N	0.04959	-0.14	0.09310	N	1	B;P;P;B;B;B;P;B;B;B;B;P;B;B;P;B;P;B;B;B;B;B;B;B;B	0.45827	0.001;0.755;0.49;0.009;0.351;0.351;0.49;0.228;0.016;0.129;0.228;0.683;0.009;0.429;0.492;0.003;0.867;0.0;0.351;0.0;0.256;0.351;0.351;0.003;0.256	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44518	0.005;0.452;0.315;0.032;0.334;0.264;0.315;0.322;0.141;0.15;0.264;0.409;0.022;0.322;0.357;0.026;0.439;0.003;0.334;0.003;0.099;0.264;0.264;0.005;0.176	D	0.84372	0.0544	10	0.40728	T	0.16	.	5.47	0.16664	0.3668:0.3625:0.2706:0.0	.	136;1467;1442;1493;1445;1445;1445;1462;1473;1445;1465;1445;1405;1493;1445;1445;1445;1434;1432;1434;1434;1445;1445;1445;1445	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	1470;1445;1445;1473;1445;1445;1445;1434;1445;1493;1465;1445;1467;1462;1445;1432;1445;1445;1445;1445;1445;1434;1275	ENSP00000336982:T1470P;ENSP00000382563:T1445P;ENSP00000382552:T1445P;ENSP00000382547:T1473P;ENSP00000382506:T1445P;ENSP00000382530:T1445P;ENSP00000382546:T1445P;ENSP00000382500:T1434P;ENSP00000382549:T1445P;ENSP00000266376:T1493P;ENSP00000382515:T1465P;ENSP00000382510:T1445P;ENSP00000341092:T1467P;ENSP00000382537:T1462P;ENSP00000329877:T1445P;ENSP00000382557:T1432P;ENSP00000385724:T1445P;ENSP00000382512:T1445P;ENSP00000382542:T1445P;ENSP00000382526:T1445P;ENSP00000385896:T1445P;ENSP00000382504:T1434P	ENSP00000323129:T1275P	T	+	1	0	CACNA1C	2644352	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.426000	0.21363	-0.335000	0.08451	-1.251000	0.01509	ACA		TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1	24	143	0	28	1	9.890364e-01	17	29	0	28	2		0	0	0	0	0	2	1	9.999998e-01	24	140	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.998582	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2775934	2775934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2775934C>T	ENST00000347598.4	+	39	4753	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C	CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCCCTCACCGCGTGGCTTG	0.537000																								0							SO:0001583	missense			ENST00000347598.4	0	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774214	0.69992	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97138	-4.19;-4.18;-4.19;-4.2;-4.18;-4.22;-4.11;-4.15;-4.19;-4.13;-4.12;-4.19;-4.25;-4.12;-4.02;-4.26;-4.21;-4.18;-4.2;-4.12;-4.19;-4.26	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.999;0.997;0.999;0.998;0.999;0.999;0.999;0.999;0.998;0.99;0.999;0.993;0.998;0.995;0.999;0.999;0.998;0.998;0.999;0.999;0.999;0.998	D	0.99651	1.0991	10	0.87932	D	0	.	17.492	0.87707	0.0:1.0:0.0:0.0	.	228;1559;1534;1585;1537;1537;1537;1554;1565;1537;1557;1537;1497;1585;1537;1537;1537;1526;1524;1526;1526;1537;1537;1537;1537	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1562;1537;1537;1565;1537;1537;1537;1526;1537;1585;1557;1537;1559;1554;1537;1524;1537;1537;1537;1537;1537;1526;1367	ENSP00000336982:R1562C;ENSP00000382563:R1537C;ENSP00000382552:R1537C;ENSP00000382547:R1565C;ENSP00000382506:R1537C;ENSP00000382530:R1537C;ENSP00000382546:R1537C;ENSP00000382500:R1526C;ENSP00000382549:R1537C;ENSP00000266376:R1585C;ENSP00000382515:R1557C;ENSP00000382510:R1537C;ENSP00000341092:R1559C;ENSP00000382537:R1554C;ENSP00000329877:R1537C;ENSP00000382557:R1524C;ENSP00000385724:R1537C;ENSP00000382512:R1537C;ENSP00000382542:R1537C;ENSP00000382526:R1537C;ENSP00000385896:R1537C;ENSP00000382504:R1526C	ENSP00000323129:R1367C	R	+	1	0	CACNA1C	2646195	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.161000	0.42358	2.429000	0.82318	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1	14	53	0	10	1	9.021881e-01	8	10	0	10	2		0	0	0	0	0	2	1	9.998307e-01	14	51	0	10	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.998564	0.990000	1	9.900000e-01	1
MRPS35	60488	broad.mit.edu	37	12	27869269	27869269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27869269C>T	ENST00000081029.3	+	3	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S	MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35			6	Lung SC(9;0.0873)				CCAGGACTGGCCTAGTGTTTA	0.408000																								0							SO:0001583	missense			ENST00000081029.3	1	1	hg19	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829827	0.16749	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.41758	1.0;0.99	5.81	2.73	0.32206	.	0.338596	0.34700	N	0.003748	T	0.23766	0.0575	L	0.39467	1.215	0.30240	N	0.795102	B;B	0.22146	0.022;0.065	B;B	0.22753	0.041;0.018	T	0.14117	-1.0484	10	0.07813	T	0.8	-10.0961	1.6724	0.02814	0.235:0.4684:0.1204:0.1762	.	67;67	P82673-2;P82673	.;RT35_HUMAN	S	67	ENSP00000081029:P67S;ENSP00000445390:P67S	ENSP00000081029:P67S	P	+	1	0	MRPS35	27760536	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.630000	0.46494	0.792000	0.33850	-0.150000	0.13652	CCT		TCGA-IB-7651-01A-11D-2154-08	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	0	0	1	61	279	0	62	1	1	97	197	0	62	2		0	0	0	0	0	2	1	1	60	276	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2788897	2788897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2788897C>T	ENST00000347598.4	+	44	5523	c.5523C>T	c.(5521-5523)ggC>ggT	p.G1841G	CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000399655.1_Silent_p.G1793G|CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000402845.3_Silent_p.G1812G|CACNA1C_ENST00000399638.1_Silent_p.G1821G|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000406454.3_Silent_p.G1793G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTGGAGGGCCACGGGCCCC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000347598.4	0	1	hg19	CCDS44788.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1	11	61	0	14	1	9.337698e-01	14	15	0	14	2		0	0	0	0	0	2	1	9.983093e-01	10	58	0	14	2								-19.855100	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.820000	1.000000	1.000000	0.988943	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2795331	2795331	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795331G>T	ENST00000347598.4	+	47	5824		c.e47-1		CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCTTTGCAGGTCGAAGGGC	0.577000																								0							SO:0001630	splice_region_variant			ENST00000347598.4	1	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861970	0.71949	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4152	0.87498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2665592	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	9.147000	0.94646	2.416000	0.81992	0.460000	0.39030	.		TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	0	65	325	0	92	1	2.870385e-02	2	0	0	92	2		0	0	0	0	0	2	1	1	64	323	0	92	2								-3.244979	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2795339	2795339	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795339G>A	ENST00000347598.4	+	47	5832	c.5832G>A	c.(5830-5832)agG>agA	p.R1944R	CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399655.1_Silent_p.R1896R|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000402845.3_Silent_p.R1915R|CACNA1C_ENST00000399638.1_Silent_p.R1924R|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000406454.3_Silent_p.R1967R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGTCGAAGGGCCTCCTTCC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000347598.4	1	1	hg19	CCDS44788.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	1	65	360	0	105	1	9.528912e-01	2	28	0	105	2		0	0	0	0	0	2	1	1	64	358	0	105	2								-20.000000	1	0	120914	1	32	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2797893	2797893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2797893C>A	ENST00000347598.4	+	48	6209	c.6209C>A	c.(6208-6210)gCt>gAt	p.A2070D	CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCAGCCAGGCTGGGGCCCCA	0.721000																								0							SO:0001583	missense			ENST00000347598.4	1	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615424	0.28801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.21	5.21	0.72293	.	0.164115	0.39475	N	0.001360	T	0.44008	0.1273	N	0.25647	0.755	0.25660	N	0.986018	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.40834	0.286;0.73;0.145;0.286;0.374;0.374;0.178;0.21;0.026;0.003;0.321;0.145;0.302;0.404;0.09;0.078;0.302;0.127;0.515;0.127;0.178;0.127;0.321;0.145;0.145	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39419	0.042;0.299;0.036;0.066;0.156;0.156;0.107;0.156;0.062;0.012;0.156;0.023;0.109;0.156;0.016;0.075;0.109;0.139;0.156;0.139;0.073;0.139;0.156;0.079;0.036	T	0.38908	-0.9639	10	0.35671	T	0.21	.	18.7594	0.91845	0.0:1.0:0.0:0.0	.	713;2063;2019;2105;2057;2041;2022;2039;2050;2022;2042;2022;2053;2070;2022;2057;2093;2030;2028;2030;2011;2041;2041;2022;2022	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	2047;2022;2022;2050;2022;2041;2041;2030;2022;2070;2042;2022;2063;2039;2057;2028;2041;2022;2093;2057;2093;2030;1923	ENSP00000336982:A2047D;ENSP00000382563:A2022D;ENSP00000382552:A2022D;ENSP00000382547:A2050D;ENSP00000382506:A2022D;ENSP00000382530:A2041D;ENSP00000382546:A2041D;ENSP00000382500:A2030D;ENSP00000382549:A2022D;ENSP00000266376:A2070D;ENSP00000382515:A2042D;ENSP00000382510:A2022D;ENSP00000341092:A2063D;ENSP00000382537:A2039D;ENSP00000329877:A2057D;ENSP00000382557:A2028D;ENSP00000385724:A2041D;ENSP00000382512:A2022D;ENSP00000382542:A2093D;ENSP00000382526:A2057D;ENSP00000385896:A2093D;ENSP00000382504:A2030D	ENSP00000323129:A1923D	A	+	2	0	CACNA1C	2668154	0.001000	0.12720	0.955000	0.39395	0.197000	0.23852	0.340000	0.19892	2.428000	0.82296	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	1	0	0	21	92	0	22	1	4.666029e-01	2	6	0	22	2		0	0	0	0	0	2	1	9.999988e-01	21	91	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999626	0.990000	1	9.900000e-01	1
CCDC91	55297	broad.mit.edu	37	12	28459812	28459812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28459812G>A	ENST00000545336.1	+	8	824	c.405G>A	c.(403-405)caG>caA	p.Q135Q	CCDC91_ENST00000381259.1_Silent_p.Q135Q|CCDC91_ENST00000306172.5_Silent_p.Q105Q|CCDC91_ENST00000381256.1_Silent_p.Q135Q|CCDC91_ENST00000539107.1_Silent_p.Q135Q|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91			22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)				TACAGCTTCAGCAAAAAATTT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000545336.1	1	1	hg19	CCDS8716.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	0	0	0	10	291	0	70	1	6.981609e-01	4	67	0	70	2		0	0	0	0	0	2	1	9.965747e-01	10	284	0	68	2								-10.730430	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.410000	0.210000	1.000000	0.390000	0.460413	0.410000	0	2.900000e-01	5.900000e-01
CCDC91	55297	broad.mit.edu	37	12	28636989	28636989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28636989C>A	ENST00000545336.1	+	15	1525	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91			22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)				AAACAGGAAACTGTTAAGGCA	0.398000																								0							SO:0001583	missense			ENST00000545336.1	1	1	hg19	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.554824|2.554824	0.45487|0.45487	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000542801|ENST00000536154;ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212	.|T;T;T;T;T;T;T	.|0.46819	.|1.43;0.99;1.43;1.43;0.99;1.42;0.86	5.83|5.83	3.69|3.69	0.42338|0.42338	.|.	.|0.199900	.|0.34906	.|N	.|0.003599	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.08118|0.08118	0|0	0.21579|0.21579	N|N	0.999638|0.999638	.|P;P;P	.|0.40794	.|0.514;0.729;0.729	.|B;P;P	.|0.45232	.|0.193;0.474;0.474	T|T	0.09930|0.09930	-1.0652|-1.0652	5|10	.|0.38643	.|T	.|0.18	-10.0404|-10.0404	8.9952|8.9952	0.36048|0.36048	0.0:0.8074:0.0:0.1926|0.0:0.8074:0.0:0.1926	.|.	.|333;369;339	.|Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.|.;CCD91_HUMAN;.	M|N	40|109;333;369;369;333;339;68	.|ENSP00000444440:T109N;ENSP00000440513:T333N;ENSP00000438040:T369N;ENSP00000370658:T369N;ENSP00000370655:T333N;ENSP00000305075:T339N;ENSP00000445999:T68N	.|ENSP00000305075:T339N	L|T	+|+	1|2	2|0	CCDC91|CCDC91	28528256|28528256	0.983000|0.983000	0.35010|0.35010	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.337000|1.337000	0.33862|0.33862	1.473000|1.473000	0.48159|0.48159	0.655000|0.655000	0.94253|0.94253	CTG|ACT		TCGA-IB-7651-01A-11D-2154-08	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	1	0	1	15	62	0	31	1	9.999993e-01	24	104	0	31	2		0	0	0	0	0	2	1	9.999123e-01	14	61	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999758	0.990000	1	9.900000e-01	1
FKBP4	2288	broad.mit.edu	37	12	2907877	2907877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2907877G>A	ENST00000001008.4	+	4	586	c.399G>A	c.(397-399)gaG>gaA	p.E133E	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa			14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		CACAGGTGGAGTTGTTTGAGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000001008.4	1	1	hg19	CCDS8512.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1	1	0	0	105	516	0	141	1	1	147	261	0	141	2		0	0	0	0	0	2	1	1	101	509	0	139	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAR2	55711	broad.mit.edu	37	12	29469871	29469871	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29469871C>T	ENST00000536681.3	+	9	1299	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	FAR2_ENST00000547116.1_Silent_p.Y254Y|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Silent_p.Y351Y	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2			29					CATCACAGTACTGGAATGCGG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000536681.3	1	1	hg19	CCDS8717.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	1	0	1	237	1015	0	281	1	9.871317e-01	5	26	0	281	2		0	0	0	0	0	2	1	1	231	997	0	278	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OVCH1	341350	broad.mit.edu	37	12	29624906	29624906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624906C>T	ENST00000318184.5	-	16	1684	c.1685G>A	c.(1684-1686)gGc>gAc	p.G562D	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1			92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)				TGGAGGGATGCCACAGACATC	0.478000																								0							SO:0001583	missense			ENST00000318184.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.96	3.266707	0.59540	.	.	ENSG00000187950	ENST00000318184	T	0.67523	-0.27	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.62780	0.2456	N	0.08118	0	0.36513	D	0.869735	D	0.89917	1.0	D	0.69654	0.965	T	0.72663	-0.4225	9	0.87932	D	0	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	562	Q7RTY7	OVCH1_HUMAN	D	562	ENSP00000326708:G562D	ENSP00000326708:G562D	G	-	2	0	OVCH1	29516173	0.994000	0.37717	0.401000	0.26359	0.922000	0.55478	3.254000	0.51477	1.520000	0.48965	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	0	10	118	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	9.970220e-01	10	116	0	38	2								-14.883380	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.960000	0.490000	1.000000	1.000000	0.879675	0.960000	1	6.900000e-01	1
OVCH1	341350	broad.mit.edu	37	12	29624909	29624909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624909C>T	ENST00000318184.5	-	16	1681	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1			92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)				AGGGATGCCACAGACATCTAC	0.478000																								0							SO:0001583	missense			ENST00000318184.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.07	1.531305	0.27387	.	.	ENSG00000187950	ENST00000318184	T	0.66280	-0.2	2.16	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.56790	0.2009	N	0.08118	0	0.25530	N	0.987281	D	0.65815	0.995	P	0.60682	0.878	T	0.52873	-0.8517	9	0.54805	T	0.06	.	11.8871	0.52608	0.0:1.0:0.0:0.0	.	561	Q7RTY7	OVCH1_HUMAN	Y	561	ENSP00000326708:C561Y	ENSP00000326708:C561Y	C	-	2	0	OVCH1	29516176	1.000000	0.71417	0.376000	0.26042	0.814000	0.46013	3.276000	0.51646	1.520000	0.48965	0.650000	0.86243	TGT		TCGA-IB-7651-01A-11D-2154-08	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	1	32	94	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	32	92	0	40	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OVCH1	341350	broad.mit.edu	37	12	29629167	29629167	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29629167G>A	ENST00000318184.5	-	13	1442	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1			92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)				CAGAATCACCGTAAATCACAA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000318184.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	1	111	637	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	1	109	626	0	144	2								-20.000000	1	1	120826	4	39	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OVCH1	341350	broad.mit.edu	37	12	29644056	29644056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29644056G>A	ENST00000318184.5	-	5	523	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1			92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)				CCATCCACTGGATAAGCAAAG	0.408000																								0							SO:0001583	missense			ENST00000318184.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.28	1.592696	0.28357	.	.	ENSG00000187950	ENST00000318184	D	0.92699	-3.09	2.47	0.599	0.17519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84037	0.5384	N	0.21194	0.64	0.09310	N	0.999997	B	0.24721	0.11	B	0.27500	0.08	T	0.73845	-0.3854	9	0.59425	D	0.04	.	4.6686	0.12678	0.3229:0.0:0.6771:0.0	.	175	Q7RTY7	OVCH1_HUMAN	F	175	ENSP00000326708:S175F	ENSP00000326708:S175F	S	-	2	0	OVCH1	29535323	0.757000	0.28394	0.327000	0.25402	0.064000	0.16182	0.845000	0.27668	0.150000	0.19136	-0.244000	0.11960	TCC		TCGA-IB-7651-01A-11D-2154-08	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	1	67	231	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	65	230	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OVCH1	341350	broad.mit.edu	37	12	29649590	29649590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29649590G>A	ENST00000318184.5	-	2	81	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	p.R28C(1)		92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)				TTGACCATGCGAATTCCACAC	0.428000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000318184.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	10.08	1.251177	0.22880	.	.	ENSG00000187950	ENST00000318184	D	0.88431	-2.38	2.88	-1.01	0.10169	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.74344	0.3704	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.08055	0.003	T	0.62310	-0.6881	9	0.72032	D	0.01	.	6.136	0.20233	0.5204:0.0:0.4796:0.0	.	28	Q7RTY7	OVCH1_HUMAN	C	28	ENSP00000326708:R28C	ENSP00000326708:R28C	R	-	1	0	OVCH1	29540857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.246000	0.09611	-1.003000	0.02500	CGC		TCGA-IB-7651-01A-11D-2154-08	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	1	0	1	79	360	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	78	353	0	97	2								-20.000000	1	1	120822	4	39	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMTC1	83857	broad.mit.edu	37	12	29659826	29659826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29659826G>A	ENST00000539277.1	-	18	2660	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	TMTC1_ENST00000256062.5_Missense_Mutation_p.R760C|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1			75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)				TTTTCTAGGCGATCCAATTTG	0.458000																								0							SO:0001583	missense			ENST00000539277.1	1	1	hg19	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219115	0.79464	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69806	-0.43;-0.23;-0.43;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.86309	0.1685	10	0.66056	D	0.02	-14.4245	17.4952	0.87715	0.0:0.0:1.0:0.0	.	868;930;213	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	C	631;760;930;892;868	ENSP00000256062:R760C;ENSP00000448112:R930C;ENSP00000449043:R892C;ENSP00000442046:R868C	ENSP00000256062:R760C	R	-	1	0	TMTC1	29551093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.186000	0.65082	2.463000	0.83235	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	1	0	1	107	614	0	147	0	8.735250e-01	0	23	0	147	2		0	0	0	0	0	2	1	1	105	605	0	146	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMTC1	83857	broad.mit.edu	37	12	29673629	29673629	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673629T>C	ENST00000539277.1	-	12	1868	c.1810A>G	c.(1810-1812)Ata>Gta	p.I604V	TMTC1_ENST00000256062.5_Missense_Mutation_p.I496V|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1			75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)				GTTTGGTATATTTCTTCAGCT	0.333000																								0							SO:0001583	missense			ENST00000539277.1	1	1	hg19	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	T	0.309	-0.969137	0.02232	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.62639	0.01;0.01;0.28;0.01	5.14	1.02	0.19986	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.421087	0.25854	N	0.027877	T	0.31420	0.0796	N	0.04297	-0.235	0.21064	N	0.999796	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.15578	-1.0432	9	.	.	.	-5.6208	6.5409	0.22380	0.0:0.4529:0.0:0.5471	.	604;666	Q8IUR5;F8VTQ9	TMTC1_HUMAN;.	V	367;496;666;628;604	ENSP00000256062:I496V;ENSP00000448112:I666V;ENSP00000449043:I628V;ENSP00000442046:I604V	.	I	-	1	0	TMTC1	29564896	0.125000	0.22332	0.036000	0.18154	0.953000	0.61014	0.436000	0.21526	0.355000	0.24131	0.533000	0.62120	ATA		TCGA-IB-7651-01A-11D-2154-08	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	1	0	1	64	252	0	78	0	8.067238e-01	1	13	0	78	2		0	0	0	0	0	2	1	1	63	250	0	78	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMTC1	83857	broad.mit.edu	37	12	29709921	29709921	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29709921G>T	ENST00000539277.1	-	10	1603	c.1545C>A	c.(1543-1545)cgC>cgA	p.R515R	TMTC1_ENST00000381224.2_Silent_p.R469R|TMTC1_ENST00000256062.5_Silent_p.R407R|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000551659.1_Silent_p.R577R	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1			75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)				CACTTGCATGGCGTGGATACA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000539277.1	1	1	hg19	CCDS53772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	1	0	1	65	286	0	56	0	8.875173e-01	0	19	0	56	2		0	0	0	0	0	2	1	1	64	282	0	56	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXM1	2305	broad.mit.edu	37	12	2973867	2973867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2973867C>T	ENST00000359843.3	-	7	1140	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000361953.3_Missense_Mutation_p.E343K|FOXM1_ENST00000342628.2_Missense_Mutation_p.E358K	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1			24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)		AGGGGGAGTTCGGTTTTGATG	0.532000																								0							SO:0001583	missense			ENST00000359843.3	1	1	hg19	CCDS8515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.936750|2.936750	0.52972|0.52972	0.0|0.0	1.16E-4|1.16E-4	ENSG00000111206|ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843|ENST00000535350	D;D;D|.	0.92805|.	-2.97;-3.11;-3.03|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.604087|.	0.16138|.	N|.	0.227843|.	T|T	0.37293|0.37293	0.0998|0.0998	N|N	0.14661|0.14661	0.345|0.345	0.30901|0.30901	N|N	0.729328|0.729328	P;D;P;D;D|.	0.69078|.	0.898;0.971;0.939;0.971;0.997|.	B;B;B;B;P|.	0.59487|.	0.234;0.298;0.412;0.298;0.858|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|5	0.25751|.	T|.	0.34|.	.|.	14.7477|14.7477	0.69501|0.69501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	342;358;343;358;358|.	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3|.	.;.;.;FOXM1_HUMAN;.|.	K|Q	358;343;358|83	ENSP00000342307:E358K;ENSP00000354492:E343K;ENSP00000352901:E358K|.	ENSP00000342307:E358K|.	E|R	-|-	1|2	0|0	FOXM1|FOXM1	2844128|2844128	0.323000|0.323000	0.24643|0.24643	0.984000|0.984000	0.44739|0.44739	0.242000|0.242000	0.25591|0.25591	1.607000|1.607000	0.36836|0.36836	2.500000|2.500000	0.84329|0.84329	0.313000|0.313000	0.20887|0.20887	GAA|CGA		TCGA-IB-7651-01A-11D-2154-08	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	0	0	0	22	569	0	140	1	4.318605e-01	7	31	0	140	2		0	0	0	0	0	2	1	9.999986e-01	22	561	0	140	2								-3.469824	1	1	121412	2	34	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.420000	0.270000	0.610000	0.420000	0.436244	0.420000	0	3.400000e-01	5.200000e-01
IPO8	10526	broad.mit.edu	37	12	30806011	30806011	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30806011A>G	ENST00000256079.4	-	18	2302	c.1964T>C	c.(1963-1965)aTt>aCt	p.I655T	IPO8_ENST00000544829.1_Missense_Mutation_p.I450T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8			52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)				CAGGGAAAGAATTTCTTCATA	0.378000																								0							SO:0001583	missense			ENST00000256079.4	1	1	hg19	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792267	0.31685	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.56941	0.43;0.43	4.78	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.093988	0.64402	N	0.000001	T	0.60064	0.2240	L	0.55103	1.725	0.58432	D	0.999995	B;D;P	0.57257	0.425;0.979;0.895	B;P;P	0.57846	0.3;0.828;0.468	T	0.59506	-0.7442	10	0.52906	T	0.07	-11.0547	10.1644	0.42871	0.9203:0.0:0.0797:0.0	.	450;131;655	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	T	655;131;450	ENSP00000256079:I655T;ENSP00000444520:I450T	ENSP00000256079:I655T	I	-	2	0	IPO8	30697278	1.000000	0.71417	0.987000	0.45799	0.801000	0.45260	8.988000	0.93501	0.790000	0.33803	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	1	0	1	59	252	0	58	1	9.999986e-01	27	61	0	58	2		0	0	0	0	0	2	1	1	59	248	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IPO8	10526	broad.mit.edu	37	12	30823918	30823918	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30823918T>G	ENST00000256079.4	-	9	1360	c.1022A>C	c.(1021-1023)aAg>aCg	p.K341T	IPO8_ENST00000544829.1_Missense_Mutation_p.K136T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8			52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)				CTTCATCTGCTTCCAGGTTAT	0.378000																								0							SO:0001583	missense			ENST00000256079.4	1	1	hg19	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652669	0.67472	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.69175	-0.38;-0.38;-0.38	4.03	4.03	0.46877	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.048446	0.85682	D	0.000000	T	0.81380	0.4810	M	0.84948	2.725	0.51767	D	0.999938	D;D	0.89917	1.0;0.996	D;D	0.77557	0.99;0.984	T	0.81382	-0.0958	10	0.30078	T	0.28	-22.7694	13.3903	0.60821	0.0:0.0:0.0:1.0	.	136;341	B7Z7M3;O15397	.;IPO8_HUMAN	T	341;136;155	ENSP00000256079:K341T;ENSP00000444520:K136T;ENSP00000439556:K155T	ENSP00000256079:K341T	K	-	2	0	IPO8	30715185	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.751000	0.62169	1.811000	0.52892	0.477000	0.44152	AAG		TCGA-IB-7651-01A-11D-2154-08	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	1	0	1	116	481	0	134	1	9.999756e-01	13	52	0	134	2		0	0	0	0	0	2	1	1	114	472	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPRIN2	65981	broad.mit.edu	37	12	30863426	30863426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30863426G>A	ENST00000395805.2	-	17	3217	c.2670C>T	c.(2668-2670)aaC>aaT	p.N890N	CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000251071.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.N945N|CAPRIN2_ENST00000308433.5_Intron	NM_001206856.1	NP_001193785.1			caprin family member 2			48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)				GCAACAGTGAGTTTCTCATAA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000395805.2	1	1	hg19	CCDS55816.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	1	0	0	107	470	0	111	1	5.802861e-01	3	7	0	111	2		0	0	0	0	0	2	1	1	106	460	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPRIN2	65981	broad.mit.edu	37	12	30873798	30873798	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30873798C>T	ENST00000298892.5	-	12	2845	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.D699N|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N	NM_023925.3	NP_076414.2			caprin family member 2			48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)				GAAGCCTGATCGGTAGTAACC	0.368000																								0							SO:0001583	missense			ENST00000298892.5	1	1	hg19	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231118	0.79688	2.27E-4	0.0	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.21734	1.99;2.0;1.99;1.99;1.99;1.99	5.35	4.46	0.54185	.	0.353866	0.30969	N	0.008504	T	0.31451	0.0797	L	0.47716	1.5	0.33215	D	0.553909	D;P;P;D	0.76494	0.999;0.926;0.947;0.984	P;B;B;P	0.56788	0.806;0.324;0.294;0.634	T	0.45425	-0.9262	10	0.51188	T	0.08	-6.765	11.2924	0.49258	0.0:0.9158:0.0:0.0842	.	699;699;699;699	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	N	445;699;699;366;699;618	ENSP00000415407:D445N;ENSP00000298892:D699N;ENSP00000251071:D699N;ENSP00000309785:D366N;ENSP00000391479:D699N;ENSP00000438010:D618N	ENSP00000251071:D699N	D	-	1	0	CAPRIN2	30765065	0.992000	0.36948	0.727000	0.30756	0.985000	0.73830	3.019000	0.49635	1.247000	0.43917	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	1	0	1	63	345	0	77	1	9.908458e-01	2	40	0	77	2		0	0	0	0	0	2	1	1	61	337	0	75	2								-2.971052	1	1	121410	2	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPRIN2	65981	broad.mit.edu	37	12	30878969	30878969	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30878969A>G	ENST00000395805.2	-	9	2383	c.1836T>C	c.(1834-1836)gaT>gaC	p.D612D	CAPRIN2_ENST00000298892.5_Silent_p.D612D|CAPRIN2_ENST00000251071.5_Silent_p.D612D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000538387.1_5'Flank|CAPRIN2_ENST00000308433.5_Silent_p.D279D	NM_001206856.1	NP_001193785.1			caprin family member 2			48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)				TCAATACTGGATCCTTCGGAA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000395805.2	1	1	hg19	CCDS55816.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	1	0	0	53	205	0	67	1	9.993870e-01	10	35	0	67	2		0	0	0	0	0	2	1	1	51	204	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPRIN2	65981	broad.mit.edu	37	12	30906676	30906676	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30906676C>T	ENST00000395805.2	-	1	569	c.22G>A	c.(22-24)Gca>Aca	p.A8T	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000308433.5_5'UTR|RP11-77I22.2_ENST00000500076.2_lincRNA	NM_001206856.1	NP_001193785.1			caprin family member 2			48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)				CCCAATGATGCTTGAGATACT	0.433000											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000395805.2	1	1	hg19	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682559	0.47991	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.73152	-0.72;2.76;-0.67;2.76	3.57	-0.709	0.11237	.	.	.	.	.	T	0.41673	0.1169	N	0.08118	0	0.09310	N	0.999993	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.17228	-1.0376	8	.	.	.	4.8522	2.7491	0.05275	0.3397:0.342:0.0:0.3183	.	8;8;8;8	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	T	8	ENSP00000298892:A8T;ENSP00000379150:A8T;ENSP00000251071:A8T;ENSP00000391479:A8T	.	A	-	1	0	CAPRIN2	30797943	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.003000	0.12901	-0.274000	0.09232	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	1	0	1	82	697	0	111	0	9.114339e-02	1	4	0	111	2		0	0	0	0	0	2	1	1	79	687	0	111	2								-20.000000	1	1	121274	2	37	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999190	0.990000	1	9.900000e-01	1
TSPAN11	441631	broad.mit.edu	37	12	31136041	31136041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31136041C>A	ENST00000261177.9	+	7	717	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M|TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11			11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)				GGCCGACCACCTGCTGCTTAT	0.662000																								0							SO:0001583	missense			ENST00000261177.9	1	1	hg19	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433800	0.43224	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	3.32	2.42	0.29668	Tetraspanin, EC2 domain (1);	0.210787	0.30051	U	0.010522	D	0.86138	0.5861	M	0.75150	2.29	0.39744	D	0.971792	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.83375	0.0009	10	0.30078	T	0.28	.	8.4767	0.33018	0.0:0.878:0.0:0.122	.	210;220	F5H0F0;A1L157	.;TSN11_HUMAN	M	220;149;210;220	ENSP00000437403:L220M;ENSP00000445503:L149M;ENSP00000439895:L210M;ENSP00000261177:L220M	ENSP00000261177:L220M	L	+	1	2	TSPAN11	31027308	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.296000	0.59055	0.701000	0.31803	0.467000	0.42956	CTG		TCGA-IB-7651-01A-11D-2154-08	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	1	0	1	28	110	0	32	0	0	0	1	0	32	2		0	0	0	0	0	2	1	1	26	107	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TEAD4	7004	broad.mit.edu	37	12	3120191	3120191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3120191G>A	ENST00000359864.2	+	4	438	c.248G>A	c.(247-249)cGc>cAc	p.R83H	TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4			10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		CTGATTGCCCGCTACATCAAG	0.627000																								0							SO:0001583	missense			ENST00000359864.2	1	1	hg19	CCDS31729.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860372	0.91433	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.34472	1.36;1.36;1.36	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79519	-0.1770	10	0.87932	D	0	-22.6944	15.6893	0.77436	0.0:0.0:1.0:0.0	.	83	Q15561	TEAD4_HUMAN	H	83	ENSP00000351184:R83H;ENSP00000352926:R83H;ENSP00000444528:R83H	ENSP00000351184:R83H	R	+	2	0	TEAD4	2990452	0.997000	0.39634	0.998000	0.56505	0.955000	0.61496	7.666000	0.83877	2.556000	0.86216	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398475.1	1	0	1	95	365	0	81	1	9.999992e-01	24	56	0	81	2		0	0	0	0	0	2	1	1	95	361	0	80	2								-20.000000	1	0	121412	1	29	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEAD4	7004	broad.mit.edu	37	12	3121335	3121335	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3121335G>T	ENST00000397122.2	+	3	189		c.e3-1		TEAD4_ENST00000359864.2_Splice_Site|TEAD4_ENST00000358409.2_Splice_Site	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4			10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		CCCTGCCACAGGTCTCCAGCC	0.607000																								0							SO:0001630	splice_region_variant			ENST00000397122.2	1	1	hg19	CCDS41737.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655937	0.47467	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035;ENST00000544666	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEAD4	2991596	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.012000	0.93624	2.468000	0.83385	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	1	0	1	24	135	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.999997e-01	24	129	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999069	0.990000	1	9.900000e-01	1
DDX11	1663	broad.mit.edu	37	12	31254899	31254899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31254899C>A	ENST00000407793.2	+	21	2436	c.2185C>A	c.(2185-2187)Ctg>Atg	p.L729M	DDX11_ENST00000228264.6_Missense_Mutation_p.L703M|DDX11_ENST00000545668.1_Missense_Mutation_p.L729M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000542838.1_Missense_Mutation_p.L729M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11			57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)				GCTGGGCCGTCTGGCTGCCAG	0.637000										Multiple Myeloma(12;0.14)														0							SO:0001583	missense			ENST00000407793.2	0	1	hg19	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251045	0.22880	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	3.85	1.98	0.26296	Helicase, ATP-dependent, c2 type (1);	0.000000	0.64402	D	0.000001	D	0.94778	0.8314	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.92802	0.6257	10	0.72032	D	0.01	.	7.095	0.25305	0.0:0.7656:0.0:0.2344	.	703;729;729	Q96FC9-3;Q96FC9;Q96FC9-2	.;DDX11_HUMAN;.	M	729;729;454;703;729	ENSP00000443426:L729M;ENSP00000384703:L729M;ENSP00000228264:L703M;ENSP00000440402:L729M	ENSP00000228264:L703M	L	+	1	2	DDX11	31146166	0.397000	0.25270	0.860000	0.33809	0.025000	0.11179	0.867000	0.27968	0.285000	0.22329	-0.199000	0.12753	CTG		TCGA-IB-7651-01A-11D-2154-08	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	0	0	0	12	170	0	34	1	7.652647e-01	11	30	0	34	2		0	0	0	0	0	2	1	9.968585e-01	9	134	0	39	2								-19.981100	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.810000	0.440000	1.000000	1.000000	0.801595	0.810000	0	6.000000e-01	1
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000542838.1_Silent_p.G797G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11			57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)				TGATGGTGGGCATGCCCTTCC	0.607000										Multiple Myeloma(12;0.14)														0							SO:0001819	synonymous_variant			ENST00000407793.2	1	1	hg19	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965738	0.18583	.	.	ENSG00000013573	ENST00000539702	.	.	.	3.29	2.36	0.29203	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	5.4916	0.16779	0.2209:0.541:0.2381:0.0	.	.	.	.	V	63	.	.	A	+	2	0	DDX11	31147155	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.767000	0.26575	0.538000	0.28769	0.505000	0.49811	GCA		TCGA-IB-7651-01A-11D-2154-08	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	1	0	1	38	225	0	57	1	8.599756e-01	9	14	0	57	2		0	0	0	0	0	2	1	1	37	219	0	61	2								-18.498040	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
DENND5B	160518	broad.mit.edu	37	12	31600696	31600696	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31600696A>G	ENST00000389082.5	-	6	1901	c.1637T>C	c.(1636-1638)tTt>tCt	p.F546S	DENND5B_ENST00000536562.1_Missense_Mutation_p.F581S|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000354285.4_Missense_Mutation_p.F568S|DENND5B_ENST00000306833.6_Missense_Mutation_p.F581S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B			38					GTCAGACAGAAAGGAAGCCTG	0.378000																								0							SO:0001583	missense			ENST00000389082.5	1	1	hg19	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511423	0.85389	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.0	5.0	0.66597	dDENN (3);	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.92000	0.5610	10	0.87932	D	0	-15.7777	14.853	0.70313	1.0:0.0:0.0:0.0	.	568;546;581	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	S	546;581;581;568	ENSP00000373734:F546S;ENSP00000306482:F581S;ENSP00000444889:F581S;ENSP00000346238:F568S	ENSP00000306482:F581S	F	-	2	0	DENND5B	31491963	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.897000	0.92532	2.096000	0.63516	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	1	0	1	12	42	0	14	1	8.648342e-01	6	9	0	14	2		0	0	0	0	0	2	1	9.993438e-01	12	40	0	14	2								-19.999850	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999634	0.990000	1	9.900000e-01	1
BICD1	636	broad.mit.edu	37	12	32481286	32481286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32481286C>T	ENST00000281474.5	+	5	2000	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	BICD1_ENST00000548411.1_Missense_Mutation_p.R633W	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)			46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)		TGCCATAATCCGGGACCAAAT	0.483000																								0							SO:0001583	missense			ENST00000281474.5	1	1	hg19	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921531	0.52653	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.53640	0.61;0.61	5.2	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.973;0.991	T	0.78033	-0.2362	10	0.87932	D	0	.	14.9211	0.70838	0.233:0.767:0.0:0.0	.	633;633	F8W113;Q96G01	.;BICD1_HUMAN	W	633	ENSP00000446793:R633W;ENSP00000281474:R633W	ENSP00000281474:R633W	R	+	1	2	BICD1	32372553	0.937000	0.31787	1.000000	0.80357	0.991000	0.79684	0.460000	0.21924	2.415000	0.81967	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	1	0	1	120	497	0	129	1	9.999998e-01	13	78	0	129	2		0	0	0	0	0	2	1	1	120	483	1	128	17								-3.226142	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BICD1	636	broad.mit.edu	37	12	32490443	32490443	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32490443T>C	ENST00000281474.5	+	7	2366	c.2263T>C	c.(2263-2265)Tat>Cat	p.Y755H	BICD1_ENST00000548411.1_Missense_Mutation_p.Y755H	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)			46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)		ATGTGATGAATATGTCACCCA	0.403000																								0							SO:0001583	missense			ENST00000281474.5	1	1	hg19	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631919	0.67015	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.78123	0.4234	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.79431	-0.1806	10	0.31617	T	0.26	.	14.2758	0.66179	0.0:0.0:0.0:1.0	.	755;755	F8W113;Q96G01	.;BICD1_HUMAN	H	755	ENSP00000446793:Y755H;ENSP00000281474:Y755H	ENSP00000281474:Y755H	Y	+	1	0	BICD1	32381710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.600000	0.82769	1.968000	0.57251	0.482000	0.46254	TAT		TCGA-IB-7651-01A-11D-2154-08	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	1	0	1	85	348	0	74	1	9.840529e-01	4	25	0	74	2		0	0	0	0	0	2	1	1	85	337	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGD4	121512	broad.mit.edu	37	12	32772647	32772647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772647C>A	ENST00000427716.2	+	11	1778	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000531134.1_Missense_Mutation_p.L537M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4			27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)				CAACATGTTGCTGTACTGTGT	0.393000																								0							SO:0001583	missense			ENST00000427716.2	1	1	hg19	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294195	0.60086	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-1.65	5.67	4.78	0.61160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41294	D	0.000909	D	0.95532	0.8548	M	0.89414	3.03	0.43657	D	0.99607	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.996	D	0.95778	0.8814	10	0.87932	D	0	-10.4131	11.6996	0.51562	0.0:0.8583:0.0:0.1417	.	564;537;452;204	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	M	589;537;452;204;359;564;204	ENSP00000449273:L589M;ENSP00000431323:L537M;ENSP00000394487:L452M;ENSP00000266482:L204M;ENSP00000446695:L359M;ENSP00000433666:L564M;ENSP00000370413:L204M	ENSP00000266482:L204M	L	+	1	2	FGD4	32663914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.843000	0.48238	1.385000	0.46445	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	1	0	1	106	440	0	100	1	9.997353e-01	6	46	0	100	2		0	0	0	0	0	2	1	1	106	431	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGD4	121512	broad.mit.edu	37	12	32772752	32772752	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772752C>A	ENST00000427716.2	+	11	1883	c.1459C>A	c.(1459-1461)Cca>Aca	p.P487T	FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000531134.1_Missense_Mutation_p.P572T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4			27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)				TGAAGAATATCCACATACTTT	0.438000																								0							SO:0001583	missense			ENST00000427716.2	1	1	hg19	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641317	0.67244	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000131	D	0.94466	0.8219	M	0.75264	2.295	0.80722	D	1	B;P;D;D	0.89917	0.41;0.616;1.0;1.0	P;P;D;D	0.85130	0.579;0.579;0.997;0.995	D	0.94264	0.7505	10	0.56958	D	0.05	-14.0	19.5071	0.95124	0.0:1.0:0.0:0.0	.	599;572;487;239	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	T	624;572;487;239;394;599;239	ENSP00000449273:P624T;ENSP00000431323:P572T;ENSP00000394487:P487T;ENSP00000266482:P239T;ENSP00000446695:P394T;ENSP00000433666:P599T;ENSP00000370413:P239T	ENSP00000266482:P239T	P	+	1	0	FGD4	32664019	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	7.251000	0.78297	2.590000	0.87494	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	1	0	1	91	364	0	102	1	9.999415e-01	30	29	0	102	2		0	0	0	0	0	2	1	1	86	352	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGD4	121512	broad.mit.edu	37	12	32778624	32778624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32778624C>T	ENST00000427716.2	+	14	2096	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4			27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)				AAGATGGATCCGAGATAATGA	0.353000																								0							SO:0001587	stop_gained			ENST00000427716.2	0	1	hg19	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	42	9.767721	0.99259	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	.	.	.	5.39	4.47	0.54385	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9663	15.1414	0.72612	0.1426:0.8574:0.0:0.0	.	.	.	.	X	695;643;558;310;465;670	.	ENSP00000266482:R310X	R	+	1	2	FGD4	32669891	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.416000	0.52707	1.202000	0.43218	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	1	0	1	79	338	0	108	1	9.999908e-01	7	67	0	108	2		0	0	0	0	0	2	1	1	79	335	0	108	2								-2.804093	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNM1L	10059	broad.mit.edu	37	12	32884840	32884840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32884840G>A	ENST00000549701.1	+	12	1483	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y	DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y|DNM1L_ENST00000452533.2_Missense_Mutation_p.C470Y			O00429	DNM1L_HUMAN	dynamin 1-like			23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				GTGGTGACTTGTCTTCTTCGT	0.313000																								0							SO:0001583	missense			ENST00000549701.1	1	1	hg19	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843653	0.51164	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.98	4.98	0.66077	Dynamin central domain (1);	0.152770	0.64402	D	0.000010	T	0.63628	0.2527	N	0.08118	0	0.80722	D	1	D;B;B;B;B;B	0.55172	0.97;0.089;0.089;0.122;0.089;0.037	P;B;B;B;B;B	0.51229	0.663;0.041;0.266;0.033;0.041;0.18	T	0.72597	-0.4245	10	0.66056	D	0.02	.	18.6016	0.91249	0.0:0.0:1.0:0.0	.	267;523;523;536;523;470	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	Y	470;536;470;483;470;483;470;470;267;483	ENSP00000415131:C470Y;ENSP00000449089:C483Y;ENSP00000450399:C470Y;ENSP00000350948:C483Y;ENSP00000266481:C470Y;ENSP00000448610:C470Y;ENSP00000404160:C267Y;ENSP00000370388:C483Y	ENSP00000266479:C470Y	C	+	2	0	DNM1L	32776107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.314000	0.65804	2.468000	0.83385	0.655000	0.94253	TGT		TCGA-IB-7651-01A-11D-2154-08	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	1	0	1	56	282	0	75	1	9.999997e-01	37	79	0	75	2		0	0	0	0	0	2	1	1	55	272	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNM1L	10059	broad.mit.edu	37	12	32895632	32895632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32895632G>T	ENST00000549701.1	+	19	2178	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.E676*			O00429	DNM1L_HUMAN	dynamin 1-like			23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				TCTTCTGACAGAATCTGAGGA	0.393000																								0							SO:0001587	stop_gained			ENST00000549701.1	0	1	hg19	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	38	6.961801	0.97967	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	.	.	.	5.52	5.52	0.82312	.	0.119189	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6304	0.88104	0.0:0.0:1.0:0.0	.	.	.	.	X	676;757;715;702;678;665;691;499;704	.	ENSP00000266481:E665X	E	+	1	0	DNM1L	32786899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.607000	0.98328	2.582000	0.87167	0.585000	0.79938	GAA		TCGA-IB-7651-01A-11D-2154-08	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	1	0	1	42	438	0	97	1	9.999848e-01	18	154	0	97	2		0	0	0	0	0	2	1	1	40	430	0	95	2								-12.552010	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.760000	1.000000	1.000000	0.963111	0.990000	1	8.900000e-01	1
PKP2	5318	broad.mit.edu	37	12	33003785	33003785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33003785C>A	ENST00000070846.6	-	5	1317	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F	PKP2_ENST00000340811.4_Missense_Mutation_p.L431F	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2			50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				CAGCCACCTCCAATTTGTTGT	0.448000																								0							SO:0001583	missense			ENST00000070846.6	1	1	hg19	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809063	0.70797	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.69685	-0.42;0.75	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.204716	0.42682	D	0.000676	T	0.78916	0.4359	M	0.70595	2.14	0.58432	D	0.999999	D;D;D	0.71674	0.997;0.998;0.995	D;D;P	0.68483	0.929;0.958;0.894	T	0.80867	-0.1190	10	0.62326	D	0.03	-6.8743	13.0312	0.58842	0.1612:0.8388:0.0:0.0	.	431;431;431	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	F	431	ENSP00000342800:L431F;ENSP00000070846:L431F	ENSP00000070846:L431F	L	-	3	2	PKP2	32895052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.556000	0.45862	2.319000	0.78375	0.462000	0.41574	TTG		TCGA-IB-7651-01A-11D-2154-08	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	1	0	1	97	368	0	84	1	9.999993e-01	17	62	0	84	2		0	0	0	0	0	2	1	1	92	358	0	84	2								-3.393440	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKP2	5318	broad.mit.edu	37	12	33031179	33031179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33031179C>T	ENST00000070846.6	-	3	659	c.635G>A	c.(634-636)cGc>cAc	p.R212H	PKP2_ENST00000340811.4_Missense_Mutation_p.R212H	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2			50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				GTCAAAGTGGCGCTGCCTGCT	0.612000																								0							SO:0001583	missense			ENST00000070846.6	1	1	hg19	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798607	0.50208	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.81996	-1.56;-1.55	5.34	2.29	0.28610	.	1.149450	0.06307	N	0.701990	T	0.78020	0.4218	L	0.46157	1.445	0.09310	N	1	P;P;P	0.52316	0.951;0.918;0.952	B;B;B	0.43052	0.31;0.164;0.406	T	0.66889	-0.5809	10	0.45353	T	0.12	-7.5805	5.7619	0.18205	0.0:0.6201:0.1447:0.2352	.	212;212;212	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	212	ENSP00000342800:R212H;ENSP00000070846:R212H	ENSP00000070846:R212H	R	-	2	0	PKP2	32922446	0.958000	0.32768	0.860000	0.33809	0.943000	0.58893	0.783000	0.26802	1.272000	0.44329	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	1	0	1	63	305	0	57	1	9.993310e-01	15	40	0	57	2		0	0	0	0	0	2	1	1	62	303	0	56	2								-3.358891	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT10	341359	broad.mit.edu	37	12	33559978	33559978	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33559978G>T	ENST00000228567.3	-	3	1119	c.823C>A	c.(823-825)Ctt>Att	p.L275I	RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000535526.1_Missense_Mutation_p.L94I|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X			42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)				TCTGGAAGAAGATACATCTTC	0.343000																								0							SO:0001583	missense			ENST00000228567.3	1	1	hg19	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286843	0.80803	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.71579	-0.58;-0.58	4.94	4.94	0.65067	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.36815	U	0.002390	T	0.80341	0.4605	L	0.46741	1.465	0.58432	D	0.999991	D	0.76494	0.999	D	0.85130	0.997	T	0.79750	-0.1672	10	0.46703	T	0.11	.	18.0323	0.89289	0.0:0.0:1.0:0.0	.	275	Q6XYQ8	SYT10_HUMAN	I	275;94	ENSP00000228567:L275I;ENSP00000438691:L94I	ENSP00000228567:L275I	L	-	1	0	SYT10	33451245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.355000	0.73041	2.665000	0.90641	0.563000	0.77884	CTT		TCGA-IB-7651-01A-11D-2154-08	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	1	0	1	44	201	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	44	200	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT10	341359	broad.mit.edu	37	12	33579114	33579114	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33579114T>C	ENST00000228567.3	-	2	764	c.468A>G	c.(466-468)gcA>gcG	p.A156A	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X			42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)				TTTGCACACGTGCATGTTTAA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000228567.3	1	1	hg19	CCDS8732.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	1	0	1	225	981	0	171		0	0	0	0	171	2		0	0	0	0	0	2	1	1	219	944	0	170	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSPAN9	10867	broad.mit.edu	37	12	3387723	3387723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3387723C>T	ENST00000011898.5	+	4	361	c.200C>T	c.(199-201)aCg>aTg	p.T67M	TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9			11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		GTCATGGTGACGGGCTTCCTC	0.577000																								0							SO:0001583	missense			ENST00000011898.5	1	1	hg19	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805945	0.70682	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.79653	-1.29;-1.29;-1.29	4.98	4.98	0.66077	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.38838	1.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.84440	0.0582	10	0.41790	T	0.15	.	15.7621	0.78091	0.0:1.0:0.0:0.0	.	67	O75954	TSN9_HUMAN	M	67	ENSP00000444799:T67M;ENSP00000011898:T67M;ENSP00000384488:T67M	ENSP00000011898:T67M	T	+	2	0	TSPAN9	3257984	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	4.985000	0.63845	2.314000	0.78098	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	1	0	1	88	397	0	89	1	1	28	148	0	89	2		0	0	0	0	0	2	1	1	88	393	0	89	2								-20.000000	1	1	121412	6	40	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALG10	84920	broad.mit.edu	37	12	34178927	34178927	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:34178927T>C	ENST00000266483.2	+	3	818	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase			26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)			GTATTTGATGTGTCTTTATGG	0.338000																								0							SO:0001583	missense			ENST00000266483.2	1	1	hg19	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145830	0.37923	.	.	ENSG00000139133	ENST00000266483	T	0.56275	0.47	3.13	3.13	0.36017	.	0.145631	0.64402	D	0.000005	T	0.57932	0.2087	M	0.80847	2.515	0.80722	D	1	P	0.49961	0.93	P	0.48982	0.597	T	0.57740	-0.7759	10	0.23302	T	0.38	.	9.6518	0.39902	0.0:0.0:0.0:1.0	.	167	Q5BKT4	AG10A_HUMAN	R	167	ENSP00000266483:C167R	ENSP00000266483:C167R	C	+	1	0	ALG10	34070194	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.762000	0.55250	1.223000	0.43536	0.155000	0.16302	TGT		TCGA-IB-7651-01A-11D-2154-08	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	1	0	1	201	944	0	203	0	7.679983e-01	0	15	0	203	2		0	0	0	0	0	2	1	1	189	893	0	220	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB4B	0	broad.mit.edu	37	12	3789439	3789439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3789439C>T	ENST00000252322.1	-	5	773	c.305G>A	c.(304-306)gGc>gAc	p.G102D	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.G102D|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN				24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		GGTCAGATAGCCATTGCCATC	0.507000																								0							SO:0001583	missense			ENST00000252322.1	1	1	hg19	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779219	0.90195	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	D;D;D	0.94232	-3.38;-1.77;-3.38	4.69	4.69	0.59074	EF-hand-like domain (1);	0.104583	0.64402	D	0.000004	D	0.97980	0.9335	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.99100	1.0843	10	0.87932	D	0	-32.3133	15.1607	0.72782	0.0:1.0:0.0:0.0	.	102;102;102	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	D	102	ENSP00000409382:G102D;ENSP00000412496:G102D;ENSP00000252322:G102D	ENSP00000252322:G102D	G	-	2	0	EFCAB4B	3659700	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.149000	0.77396	2.460000	0.83146	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1	1	0	1	45	202	0	72	0	3.782809e-01	0	7	0	72	2		0	0	0	0	0	2	1	1	43	196	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ALG10B	144245	broad.mit.edu	37	12	38710827	38710827	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38710827G>A	ENST00000308742.4	+	1	448	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ALG10B_ENST00000551464.1_Silent_p.Q44Q	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase			25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)			ACCTGCCTCAGGCGCAGCGCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000308742.4	1	1	hg19	CCDS31772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	1	0	0	217	1022	0	252	1	7.663835e-01	4	11	0	252	2		0	0	0	0	0	2	1	1	215	993	0	246	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALG10B	144245	broad.mit.edu	37	12	38714900	38714900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38714900G>A	ENST00000308742.4	+	3	1623	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase			25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)			CCCACATCCAGACTTGTTTGT	0.348000																								0							SO:0001583	missense			ENST00000308742.4	1	1	hg19	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.336137	0.01287	.	.	ENSG00000175548	ENST00000308742	T	0.30981	1.51	3.49	1.67	0.24075	.	0.226336	0.50627	N	0.000102	T	0.15349	0.0370	N	0.21583	0.68	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09271	-1.0682	10	0.15499	T	0.54	.	5.535	0.17005	0.3517:0.0:0.6483:0.0	.	436	Q5I7T1	AG10B_HUMAN	K	436	ENSP00000310120:R436K	ENSP00000310120:R436K	R	+	2	0	ALG10B	37001167	0.962000	0.33011	0.782000	0.31804	0.057000	0.15508	2.340000	0.43974	0.487000	0.27698	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	0	0	1	157	694	0	178	1	8.888195e-01	5	14	0	178	2		0	0	0	0	0	2	1	1	154	683	0	177	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP11	57097	broad.mit.edu	37	12	3931121	3931121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3931121G>T	ENST00000228820.4	-	6	610	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000447133.3_Missense_Mutation_p.L75I	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11			17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		TTCCCAAAGAGATTAGCAACT	0.353000																								0							SO:0001583	missense			ENST00000228820.4	1	1	hg19	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027327	0.54683	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.29	5.29	0.74685	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.068839	0.64402	D	0.000013	T	0.19604	0.0471	L	0.47716	1.5	0.43330	D	0.995366	P;P;P	0.44946	0.846;0.557;0.611	B;B;B	0.43658	0.426;0.295;0.419	T	0.01805	-1.1270	10	0.18710	T	0.47	.	16.457	0.84021	0.0:0.0:1.0:0.0	.	75;156;149	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	I	149;75;156;75	ENSP00000380284:L149I;ENSP00000397058:L75I;ENSP00000228820:L156I;ENSP00000405385:L75I	ENSP00000228820:L156I	L	-	1	0	PARP11	3801382	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.917000	0.63369	2.740000	0.93945	0.637000	0.83480	CTC		TCGA-IB-7651-01A-11D-2154-08	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1	1	0	1	81	314	0	77	1	9.819335e-01	6	21	0	77	2		0	0	0	0	0	2	1	1	80	310	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP11	57097	broad.mit.edu	37	12	3939112	3939112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3939112C>T	ENST00000228820.4	-	2	235	c.91G>A	c.(91-93)Gat>Aat	p.D31N	PARP11_ENST00000397096.2_Missense_Mutation_p.D24N|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11			17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		CACTGGGTATCTGACGTGTCC	0.423000																								0							SO:0001583	missense			ENST00000228820.4	1	1	hg19	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223274	0.95139	.	.	ENSG00000111224	ENST00000397096;ENST00000228820	T;T	0.29142	1.58;1.58	5.52	5.52	0.82312	WWE domain (1);	0.147781	0.64402	D	0.000013	T	0.46444	0.1393	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.64321	0.876;0.924	T	0.07214	-1.0784	10	0.30078	T	0.28	.	16.978	0.86319	0.0:1.0:0.0:0.0	.	31;24	Q9NR21-4;Q9NR21	.;PAR11_HUMAN	N	24;31	ENSP00000380284:D24N;ENSP00000228820:D31N	ENSP00000228820:D31N	D	-	1	0	PARP11	3809373	1.000000	0.71417	0.138000	0.22173	0.901000	0.52897	6.884000	0.75600	2.873000	0.98535	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1	1	0	0	11	315	0	75	0	4.587935e-01	1	42	0	75	2		0	0	0	0	0	2	1	9.982918e-01	11	311	0	75	2								-3.474021	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.390000	0.200000	0.640000	0.380000	0.408020	0.390000	0	2.800000e-01	5.200000e-01
KIF21A	55605	broad.mit.edu	37	12	39711958	39711958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39711958G>A	ENST00000361418.5	-	29	3840	c.3825C>T	c.(3823-3825)tcC>tcT	p.S1275S	KIF21A_ENST00000361961.3_Silent_p.S1262S|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000541463.2_Silent_p.S1239S|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000395670.3_Silent_p.S1275S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A			86		Lung NSC(34;0.179)|all_lung(34;0.213)			GGCTTGGTGGGGAAGAAGGAG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000361418.5	1	1	hg19	CCDS53776.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	1	0	1	43	298	0	72	1	6.211106e-01	9	7	0	72	2		0	0	0	0	0	2	1	1	42	288	0	72	2								-3.221971	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999787	0.990000	1	9.900000e-01	1
KIF21A	55605	broad.mit.edu	37	12	39713771	39713771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39713771G>T	ENST00000361418.5	-	28	3731	c.3716C>A	c.(3715-3717)tCt>tAt	p.S1239Y	KIF21A_ENST00000361961.3_Missense_Mutation_p.S1226Y|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.S1239Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A			86		Lung NSC(34;0.179)|all_lung(34;0.213)			TGTTACAGGAGAAGGCTCTGG	0.338000																								0							SO:0001583	missense			ENST00000361418.5	1	1	hg19	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.771470|4.771470	0.90108|0.90108	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.73363	.|-0.66;-0.67;0.1;-0.74;-0.56;-0.73	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.49916	.|D	.|0.000138	D|D	0.86826|0.86826	0.6026|0.6026	M|M	0.73962|0.73962	2.25|2.25	0.53688|0.53688	D|D	0.999974|0.999974	.|P;D;P;D;D;D	.|0.89917	.|0.946;0.978;0.952;0.978;1.0;1.0	.|P;P;P;P;D;D	.|0.78314	.|0.735;0.804;0.781;0.804;0.991;0.989	D|D	0.87375|0.87375	0.2353|0.2353	5|10	.|0.87932	.|D	.|0	.|.	19.9598|19.9598	0.97242|0.97242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1219;1203;1239;1226;1239;286	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	I|Y	587|1226;1239;1239;286;280;1219;1239;1203	.|ENSP00000354851:S1226Y;ENSP00000379029:S1239Y;ENSP00000448792:S280Y;ENSP00000445606:S1219Y;ENSP00000354878:S1239Y;ENSP00000438075:S1203Y	.|ENSP00000344501:S1239Y	L|S	-|-	1|2	0|0	KIF21A|KIF21A	38000038|38000038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.318000|8.318000	0.89990|0.89990	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	CTC|TCT		TCGA-IB-7651-01A-11D-2154-08	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	1	0	0	13	59	0	24	1	9.460008e-01	5	21	0	24	2		0	0	0	0	0	2	1	9.995645e-01	13	55	0	24	2								-19.999840	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999183	0.990000	1	9.900000e-01	1
ABCD2	225	broad.mit.edu	37	12	40012798	40012798	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40012798T>C	ENST00000308666.3	-	1	755	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2			52					AAGAGATTGGTCAGGGTTTGC	0.413000																								0							SO:0001583	missense			ENST00000308666.3	1	1	hg19	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729406	0.69074	.	.	ENSG00000173208	ENST00000308666	D	0.99874	-7.39	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96107	0.9074	9	.	.	.	-9.2221	14.6449	0.68754	0.0:0.0:0.0:1.0	.	207	Q9UBJ2	ABCD2_HUMAN	G	207	ENSP00000310688:D207G	.	D	-	2	0	ABCD2	38299065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.517000	0.81783	1.849000	0.53698	0.455000	0.32223	GAC		TCGA-IB-7651-01A-11D-2154-08	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	1	0	1	129	493	0	104	0	1.122542e-01	0	3	0	104	2		0	0	0	0	0	2	1	1	128	485	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C12orf40	283461	broad.mit.edu	37	12	40044117	40044117	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40044117A>C	ENST00000324616.5	+	7	801	c.647A>C	c.(646-648)aAa>aCa	p.K216T	C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T|C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40			38					CCATCACATAAAACTACACGA	0.318000																								0							SO:0001583	missense			ENST00000324616.5	1	1	hg19	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	7.345	0.621738	0.14193	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45276	0.9;0.91	3.53	2.34	0.29019	.	1.135250	0.06734	N	0.777242	T	0.29061	0.0722	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.27331	-1.0077	10	0.62326	D	0.03	.	7.0939	0.25299	0.7708:0.2292:0.0:0.0	.	216	Q86WS4	CL040_HUMAN	T	216;139;216	ENSP00000383897:K216T;ENSP00000317671:K216T	ENSP00000317671:K216T	K	+	2	0	C12orf40	38330384	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.391000	0.20784	0.688000	0.31529	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	1	0	1	17	72	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.999819e-01	17	72	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999863	0.990000	1	9.900000e-01	1
SLC2A13	114134	broad.mit.edu	37	12	40223918	40223918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40223918C>A	ENST00000280871.4	-	7	1482	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13			29		Lung NSC(34;0.105)|all_lung(34;0.123)			CCCCAGGCTGCCTCATTTGTA	0.378000										HNSCC(50;0.14)														0							SO:0001583	missense			ENST00000280871.4	1	1	hg19	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430936	0.25726	.	.	ENSG00000151229	ENST00000280871	T	0.81415	-1.49	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111670	0.64402	N	0.000010	T	0.71417	0.3337	L	0.38175	1.15	0.80722	D	1	B	0.19935	0.04	B	0.18871	0.023	T	0.66380	-0.5938	10	0.02654	T	1	-16.0386	18.6262	0.91340	0.0:1.0:0.0:0.0	.	478	Q96QE2	MYCT_HUMAN	S	478	ENSP00000280871:A478S	ENSP00000280871:A478S	A	-	1	0	SLC2A13	38510185	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.220000	0.72237	2.702000	0.92279	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2	0	0	1	45	204	1	53	1	9.416767e-01	15	41	1	53	6		0	0	0	0	0	2	1	9.999757e-01	44	199	1	53	16								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC2A13	114134	broad.mit.edu	37	12	40499124	40499124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40499124C>T	ENST00000280871.4	-	1	537	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13			29		Lung NSC(34;0.105)|all_lung(34;0.123)			GCCAGCACCGCGGAGCCGGCG	0.741000										HNSCC(50;0.14)														0							SO:0001583	missense			ENST00000280871.4	0	1	hg19	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419577	0.62622	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.60299	0.2;0.2	3.5	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.623406	0.15357	N	0.266630	T	0.45816	0.1361	L	0.39467	1.215	0.29254	N	0.871781	P;P	0.47545	0.539;0.897	B;B	0.40444	0.329;0.329	T	0.43653	-0.9378	10	0.66056	D	0.02	-0.7911	9.3766	0.38286	0.0:0.8243:0.0:0.1757	.	163;163	Q96QE2;E9PE47	MYCT_HUMAN;.	T	163	ENSP00000280871:A163T;ENSP00000370239:A163T	ENSP00000280871:A163T	A	-	1	0	SLC2A13	38785391	0.868000	0.29978	0.962000	0.40283	0.910000	0.53928	0.216000	0.17585	0.202000	0.20498	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2	1	0	0	13	62	0	10	1	4.369806e-01	2	6	0	10	2		0	0	0	0	0	2	1	9.996984e-01	13	62	0	9	2								-19.999930	1	1	118798	1	25	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.998939	0.990000	1	9.900000e-01	1
LRRK2	120892	broad.mit.edu	37	12	40637414	40637414	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40637414A>G	ENST00000298910.7	+	7	827	c.769A>G	c.(769-771)Atg>Gtg	p.M257V	LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	p.M257V(2)		181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)			GGTGGAAGCTATGAAAGCATT	0.363000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000298910.7	1	1	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893962	0.72639	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.64260	-0.09;1.36;1.36	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.59436	1.845	0.46131	D	0.998883	D	0.59767	0.986	D	0.70227	0.968	T	0.76558	-0.2915	10	0.54805	T	0.06	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	257	Q5S007	LRRK2_HUMAN	V	141;257;257	ENSP00000398726:M141V;ENSP00000341930:M257V;ENSP00000298910:M257V	ENSP00000298910:M257V	M	+	1	0	LRRK2	38923681	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.938000	0.70170	2.282000	0.76494	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	0	0	0	22	564	0	109	0	3.765814e-02	0	8	0	109	2		0	0	0	0	0	2	1	9.999982e-01	22	546	0	108	2								-3.994336	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.450000	0.280000	1.000000	0.440000	0.494375	0.450000	0	3.600000e-01	5.800000e-01
LRRK2	120892	broad.mit.edu	37	12	40653291	40653291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40653291C>T	ENST00000298910.7	+	13	1486	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	LRRK2_ENST00000343742.2_Silent_p.S476S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2			181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)			GCAACACTTCCCTGGATATAA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000298910.7	1	1	hg19	CCDS31774.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	0	41	436	0	94	0	4.136069e-01	0	16	0	94	2		0	0	0	0	0	2	1	1	41	429	0	92	2								-2.806910	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.740000	1.000000	1.000000	0.956328	0.990000	1	8.700000e-01	1
LRRK2	120892	broad.mit.edu	37	12	40693003	40693003	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40693003A>G	ENST00000298910.7	+	25	3498	c.3440A>G	c.(3439-3441)aAc>aGc	p.N1147S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2			181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)			CTATCAGAGAACTTTCTTGAG	0.418000																								0							SO:0001583	missense			ENST00000298910.7	1	1	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523245	0.44866	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71341	2.3;-0.56	5.29	4.15	0.48705	.	0.429907	0.26297	N	0.025193	T	0.58977	0.2160	L	0.43152	1.355	0.29182	N	0.876412	B;B	0.24675	0.006;0.109	B;B	0.27170	0.008;0.077	T	0.48293	-0.9048	10	0.09338	T	0.73	.	10.7437	0.46168	0.9253:0.0:0.0747:0.0	.	1147;1147	E9PC85;Q5S007	.;LRRK2_HUMAN	S	1147	ENSP00000341930:N1147S;ENSP00000298910:N1147S	ENSP00000298910:N1147S	N	+	2	0	LRRK2	38979270	1.000000	0.71417	0.637000	0.29366	0.990000	0.78478	5.691000	0.68249	0.846000	0.35142	0.402000	0.26972	AAC		TCGA-IB-7651-01A-11D-2154-08	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	1	152	623	0	151	0	8.729931e-01	0	17	0	151	2		0	0	0	0	0	2	1	1	144	609	0	150	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRK2	120892	broad.mit.edu	37	12	40697802	40697802	+	Missense_Mutation	SNP	G	G	A	rs143710836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40697802G>A	ENST00000298910.7	+	27	3701	c.3643G>A	c.(3643-3645)Gca>Aca	p.A1215T	LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2			181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)			ACCAGGTCCCGCACACTGGAA	0.368000																								0							SO:0001583	missense			ENST00000298910.7	1	1	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071280	0.36566	0.0	4.65E-4	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.72505	0.2;-0.66	5.37	3.51	0.40186	.	0.410140	0.26116	N	0.026250	T	0.42854	0.1221	N	0.17723	0.515	0.09310	N	1	P;B;P	0.38535	0.635;0.384;0.635	B;B;B	0.27380	0.079;0.038;0.079	T	0.28744	-1.0034	10	0.30854	T	0.27	.	2.0332	0.03534	0.1515:0.1347:0.4361:0.2777	.	1215;1215;1215	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	T	1215	ENSP00000341930:A1215T;ENSP00000298910:A1215T	ENSP00000298910:A1215T	A	+	1	0	LRRK2	38984069	0.000000	0.05858	0.892000	0.35008	0.973000	0.67179	0.349000	0.20055	0.726000	0.32339	0.557000	0.71058	GCA		TCGA-IB-7651-01A-11D-2154-08	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	1	78	306	0	74	0	9.865648e-01	0	29	0	74	2		0	0	0	0	0	2	1	1	78	302	0	73	2								-2.945302	1	1	121412	15	43	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRK2	120892	broad.mit.edu	37	12	40702280	40702280	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40702280A>C	ENST00000298910.7	+	29	4029	c.3971A>C	c.(3970-3972)cAg>cCg	p.Q1324P		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2			181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)			TTTCTTCAACAGCGATTAAAA	0.318000																								0							SO:0001583	missense			ENST00000298910.7	1	0	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724007	0.68959	.	.	ENSG00000188906	ENST00000298910	T	0.73047	-0.71	5.56	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.981	T	0.76421	-0.2965	10	0.62326	D	0.03	.	11.9799	0.53113	0.8706:0.0:0.0:0.1294	.	1324;1324	Q17RV3;Q5S007	.;LRRK2_HUMAN	P	1324	ENSP00000298910:Q1324P	ENSP00000298910:Q1324P	Q	+	2	0	LRRK2	38988547	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	6.860000	0.75473	2.101000	0.63845	0.477000	0.44152	CAG		TCGA-IB-7651-01A-11D-2154-08	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	0	35	145	0	40	0	9.399832e-01	0	22	0	40	2		0	0	0	0	0	2	1	1	35	142	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRK2	120892	broad.mit.edu	37	12	40704345	40704345	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40704345G>A	ENST00000298910.7	+	31	4488	c.4430G>A	c.(4429-4431)cGa>cAa	p.R1477Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2			181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)			CTGAATAAGCGAGGGTTCCCT	0.453000																								0							SO:0001583	missense			ENST00000298910.7	1	1	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525058	0.44969	.	.	ENSG00000188906	ENST00000298910	T	0.80304	-1.36	5.53	5.53	0.82687	ROC GTPase (1);	0.147080	0.47455	D	0.000223	T	0.63616	0.2526	L	0.29908	0.895	0.29304	N	0.868489	B;P	0.35908	0.338;0.527	B;B	0.15484	0.009;0.013	T	0.59247	-0.7490	10	0.13470	T	0.59	.	12.7605	0.57361	0.075:0.0:0.925:0.0	.	1477;1477	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1477	ENSP00000298910:R1477Q	ENSP00000298910:R1477Q	R	+	2	0	LRRK2	38990612	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.642000	0.61383	2.597000	0.87782	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	0	0	1	149	720	0	175	0	9.636478e-01	0	28	0	175	2		0	0	0	0	0	2	1	1	150	707	0	174	2								-3.083450	1	1	121412	1	37	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRK2	120892	broad.mit.edu	37	12	40745515	40745515	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40745515A>G	ENST00000298910.7	+	44	6614	c.6556A>G	c.(6556-6558)Act>Gct	p.T2186A		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2			181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)			TGACTTAAATACTGAAGGATA	0.373000																								0							SO:0001583	missense			ENST00000298910.7	1	0	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409497	0.42715	.	.	ENSG00000188906	ENST00000298910	T	0.72167	-0.63	6.06	3.62	0.41486	WD40 repeat-like-containing domain (1);	0.488214	0.24544	N	0.037605	T	0.61060	0.2317	L	0.55481	1.735	0.30425	N	0.777732	B;B	0.16166	0.016;0.016	B;B	0.13407	0.009;0.009	T	0.58769	-0.7578	10	0.42905	T	0.14	.	6.0845	0.19960	0.746:0.0:0.1324:0.1216	.	2186;2186	Q17RV3;Q5S007	.;LRRK2_HUMAN	A	2186	ENSP00000298910:T2186A	ENSP00000298910:T2186A	T	+	1	0	LRRK2	39031782	1.000000	0.71417	0.856000	0.33681	0.939000	0.58152	3.658000	0.54482	1.110000	0.41699	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	1	0	0	16	178	0	40	0	6.889633e-01	1	27	0	40	2		0	0	0	0	0	2	1	9.999404e-01	16	176	0	40	2								-19.989210	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.590000	1.000000	1.000000	0.915383	0.990000	1	7.700000e-01	1
CNTN1	1272	broad.mit.edu	37	12	41333262	41333262	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41333262A>G	ENST00000551295.2	+	12	1471	c.1354A>G	c.(1354-1356)Aca>Gca	p.T452A	CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1			90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)			GAGTAAAGGGACAGAGTGGCT	0.378000																								0							SO:0001583	missense			ENST00000551295.2	1	1	hg19	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244033	0.39697	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.33189	0.99	0.46167	D	0.998905	B;P;P	0.45396	0.184;0.828;0.857	B;P;P	0.48982	0.101;0.462;0.597	T	0.02966	-1.1088	10	0.08837	T	0.75	.	10.6344	0.45556	0.9235:0.0:0.0765:0.0	.	452;441;452	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	A	452;452;452;452;452;441	ENSP00000448004:T452A;ENSP00000447006:T452A;ENSP00000448653:T452A;ENSP00000325660:T452A;ENSP00000353213:T452A;ENSP00000261160:T441A	ENSP00000325660:T452A	T	+	1	0	CNTN1	39619529	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	5.584000	0.67490	2.172000	0.68678	0.459000	0.35465	ACA		TCGA-IB-7651-01A-11D-2154-08	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	1	0	1	45	212	0	40	0	9.996334e-01	0	59	0	40	2		0	0	0	0	0	2	1	1	43	203	0	39	2								-19.999990	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN1	1272	broad.mit.edu	37	12	41387041	41387041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41387041C>T	ENST00000551295.2	+	17	2200	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S|CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1			90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)			GCCCAGTATACCATCTAACAG	0.393000																								0							SO:0001583	missense			ENST00000551295.2	1	1	hg19	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047596	0.75846	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.55234	0.53;0.53;0.53	5.2	5.2	0.72013	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.75628	-0.3252	10	0.72032	D	0.01	.	19.1136	0.93328	0.0:1.0:0.0:0.0	.	684;695	Q12860-2;Q12860	.;CNTN1_HUMAN	S	695;695;684	ENSP00000447006:P695S;ENSP00000325660:P695S;ENSP00000261160:P684S	ENSP00000325660:P695S	P	+	1	0	CNTN1	39673308	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.471000	0.66762	2.576000	0.86940	0.555000	0.69702	CCA		TCGA-IB-7651-01A-11D-2154-08	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	1	0	1	37	209	0	61	0	9.906804e-01	0	44	0	61	2		0	0	0	0	0	2	1	1	37	205	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
CNTN1	1272	broad.mit.edu	37	12	41410595	41410595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41410595C>T	ENST00000551295.2	+	19	2413	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1			90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)			TGATACTGGCCGATATGTCCA	0.403000																								0							SO:0001587	stop_gained			ENST00000551295.2	0	1	hg19	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.832891	0.97003	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	.	.	.	5.35	-2.88	0.05682	.	0.113585	0.64402	D	0.000013	.	.	.	.	.	.	0.22911	N	0.998577	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8613	0.52467	0.5695:0.3721:0.0:0.0583	.	.	.	.	X	766;766;755	.	ENSP00000325660:R766X	R	+	1	2	CNTN1	39696862	0.819000	0.29175	0.027000	0.17364	0.453000	0.32348	1.290000	0.33319	-0.637000	0.05516	-0.262000	0.10625	CGA		TCGA-IB-7651-01A-11D-2154-08	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	1	0	1	85	362	0	107	0	9.999467e-01	0	63	0	107	2		0	0	0	0	0	2	1	1	84	356	0	106	2								-3.007478	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN1	1272	broad.mit.edu	37	12	41414236	41414236	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41414236C>T	ENST00000551295.2	+	20	2634	c.2517C>T	c.(2515-2517)agC>agT	p.S839S	CNTN1_ENST00000347616.1_Silent_p.S839S|CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1			90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)			TAGTGGAAAGCTATCAGGTAC	0.313000																								0							SO:0001819	synonymous_variant			ENST00000551295.2	1	1	hg19	CCDS8737.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	1	0	1	31	151	0	30	0	9.972023e-01	0	48	0	30	2		0	0	0	0	0	2	1	1	31	149	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
PDZRN4	29951	broad.mit.edu	37	12	41900458	41900458	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41900458G>T	ENST00000402685.2	+	4	1052	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.K88N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4			77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)			CTCTGGCCAAGCTTCGTCCAC	0.488000																								0							SO:0001583	missense			ENST00000402685.2	1	1	hg19	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702531	0.48307	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73789	-0.78;3.66;3.66	5.08	1.88	0.25563	.	3.044700	0.01135	N	0.006067	D	0.87273	0.6136	M	0.80183	2.485	0.49798	D	0.999824	D;P;P	0.89917	1.0;0.635;0.517	D;B;B	0.73708	0.981;0.347;0.317	T	0.69386	-0.5159	10	0.66056	D	0.02	-39.6877	10.0306	0.42099	0.4541:0.0:0.5459:0.0	.	348;88;90	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	348;90;88	ENSP00000384197:K348N;ENSP00000439990:K90N;ENSP00000298919:K88N	ENSP00000298919:K88N	K	+	3	2	PDZRN4	40186725	1.000000	0.71417	0.980000	0.43619	0.695000	0.40330	1.398000	0.34554	0.242000	0.21303	-0.251000	0.11542	AAG		TCGA-IB-7651-01A-11D-2154-08	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	1	0	1	56	309	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	57	301	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDZRN4	29951	broad.mit.edu	37	12	41949534	41949534	+	Missense_Mutation	SNP	G	G	A	rs138596022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41949534G>A	ENST00000402685.2	+	7	1345	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R186Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4			77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)			AAAGACGGCCGGATTCGAGAA	0.398000																								0							SO:0001583	missense			ENST00000402685.2	1	1	hg19	CCDS53777.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	32	5.177813	0.94846	0.0	1.16E-4	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.50001	0.76;0.76;0.76	5.16	4.26	0.50523	PDZ/DHR/GLGF (4);	0.087075	0.48767	N	0.000177	T	0.62539	0.2436	L	0.49126	1.545	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	0.999;1.0;0.97	T	0.66492	-0.5910	10	0.87932	D	0	-15.3825	14.1885	0.65623	0.0732:0.0:0.9268:0.0	.	446;186;188	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	446;188;186	ENSP00000384197:R446Q;ENSP00000439990:R188Q;ENSP00000298919:R186Q	ENSP00000298919:R186Q	R	+	2	0	PDZRN4	40235801	1.000000	0.71417	0.915000	0.36163	0.973000	0.67179	7.891000	0.87319	1.489000	0.48450	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	1	0	1	94	478	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	1	92	473	0	102	2								-2.751872	1	1	121412	20	47	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GXYLT1	283464	broad.mit.edu	37	12	42499768	42499768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42499768G>A	ENST00000398675.3	-	5	948	c.716C>T	c.(715-717)aCa>aTa	p.T239I	GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1			17					AGCAATTTGTGTGGAATTAAA	0.368000																								0							SO:0001583	missense			ENST00000398675.3	1	1	hg19	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655056	0.88056	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.39787	1.06;1.06	6.07	6.07	0.98685	.	0.090831	0.85682	D	0.000000	T	0.61489	0.2351	M	0.78916	2.43	0.58432	D	0.999994	P;P	0.49090	0.9;0.919	P;P	0.52598	0.578;0.703	T	0.61322	-0.7086	10	0.54805	T	0.06	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	208;239	Q4G148-2;Q4G148	.;GXLT1_HUMAN	I	239;208	ENSP00000381666:T239I;ENSP00000280876:T208I	ENSP00000280876:T208I	T	-	2	0	GXYLT1	40786035	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.533000	0.67160	2.885000	0.99019	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	1	0	1	78	271	0	58	1	9.982819e-01	7	29	0	58	2		0	0	0	0	0	2	1	1	77	266	0	58	2								-20.000000	1	1	120810	1	28	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCRB1	85437	broad.mit.edu	37	12	42706924	42706924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42706924C>T	ENST00000266529.3	-	8	782	c.599G>A	c.(598-600)cGc>cAc	p.R200H	ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1			8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)			TATCCTTGGGCGTCTTGAATC	0.353000																								0							SO:0001583	missense			ENST00000266529.3	1	1	hg19	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506193	0.85282	.	.	ENSG00000139168	ENST00000266529;ENST00000552673	T;T	0.51817	2.45;0.69	5.48	5.48	0.80851	.	0.098903	0.64402	D	0.000002	T	0.59569	0.2203	L	0.59436	1.845	0.47476	D	0.999437	D	0.71674	0.998	P	0.52710	0.707	T	0.63084	-0.6716	10	0.72032	D	0.01	-7.2678	19.3636	0.94453	0.0:1.0:0.0:0.0	.	200	Q8TBF4	ZCRB1_HUMAN	H	200;159	ENSP00000266529:R200H;ENSP00000446732:R159H	ENSP00000266529:R200H	R	-	2	0	ZCRB1	40993191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.128000	0.64733	2.573000	0.86826	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	1	0	0	9	179	0	28	1	9.999727e-01	31	434	0	28	2		0	0	0	0	0	2	1	9.942889e-01	9	177	0	28	2								-4.363339	1	1	121406	1	30	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.600000	0.290000	1.000000	1.000000	0.630282	0.600000	0	4.200000e-01	8.500000e-01
PRICKLE1	144165	broad.mit.edu	37	12	42862549	42862549	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42862549A>G	ENST00000455697.1	-	5	752	c.467T>C	c.(466-468)tTt>tCt	p.F156S	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)			47	all_cancers(12;4.25e-05)|Breast(8;0.176)				GAAACAGACAAAACAGGATGG	0.483000																								0							SO:0001583	missense			ENST00000455697.1	1	1	hg19	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	A	33	5.193653	0.94960	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.22	5.56	5.56	0.83823	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	-16.4253	16.0092	0.80385	1.0:0.0:0.0:0.0	.	156	Q96MT3	PRIC1_HUMAN	S	156	ENSP00000401060:F156S;ENSP00000398947:F156S;ENSP00000448359:F156S;ENSP00000345064:F156S;ENSP00000449819:F156S;ENSP00000447870:F156S	ENSP00000345064:F156S	F	-	2	0	PRICKLE1	41148816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.240000	0.73641	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1	1	0	1	66	271	0	59	1	9.719853e-01	2	24	0	59	2	1	1	141	646	0	697	2	1	1	66	268	0	58	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM5A	5927	broad.mit.edu	37	12	432350	432350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:432350G>A	ENST00000399788.2	-	16	2535	c.2173C>T	c.(2173-2175)Ctc>Ttc	p.L725F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A			77					AGAGAAGGGAGGTCTTCTAAT	0.328000			T	NUP98	AML										Dom	yes		12	12p11	5927	lysine (K)-specific demethylase 5A, JARID1A		L	0							SO:0001583	missense			ENST00000399788.2	1	1	hg19	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321988	0.60634	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.95724	-3.79;-3.79;-3.79	5.39	5.39	0.77823	Zinc finger, C5HC2-type (1);	0.055609	0.64402	D	0.000001	D	0.96169	0.8751	M	0.83483	2.645	0.50467	D	0.999873	B;B;B	0.28178	0.202;0.118;0.017	B;B;B	0.39771	0.307;0.309;0.046	D	0.95095	0.8225	10	0.56958	D	0.05	-10.091	13.7971	0.63177	0.0737:0.0:0.9263:0.0	.	725;725;725	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	F	344;684;725;725;344	ENSP00000382688:L725F;ENSP00000372265:L725F;ENSP00000440622:L344F	ENSP00000261253:L344F	L	-	1	0	KDM5A	302611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.011000	0.70760	2.676000	0.91093	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	1	0	1	35	172	0	33	1	9.999250e-01	12	63	0	33	2		0	0	0	0	0	2	1	1	35	168	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
ADAMTS20	80070	broad.mit.edu	37	12	43777426	43777426	+	Missense_Mutation	SNP	G	G	T	rs138413325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43777426G>T	ENST00000389420.3	-	31	4731	c.4732C>A	c.(4732-4734)Ctt>Att	p.L1578I		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20			95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)			TTGGATGTAAGAGATATGGTT	0.373000																								0							SO:0001583	missense			ENST00000389420.3	1	1	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599366	0.03744	.	.	ENSG00000173157	ENST00000389420	T	0.58797	0.31	4.7	2.8	0.32819	.	0.702414	0.12233	N	0.487297	T	0.49115	0.1538	L	0.46157	1.445	0.54753	D	0.999988	B	0.27068	0.167	B	0.22601	0.04	T	0.35475	-0.9787	10	0.36615	T	0.2	.	11.2882	0.49234	0.0:0.2552:0.6129:0.1319	.	1578	P59510	ATS20_HUMAN	I	1578	ENSP00000374071:L1578I	ENSP00000374071:L1578I	L	-	1	0	ADAMTS20	42063693	0.905000	0.30787	0.291000	0.24904	0.014000	0.08584	0.870000	0.28010	0.623000	0.30267	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	1	0	1	28	140	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	28	138	0	37	2								-3.294373	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
ADAMTS20	80070	broad.mit.edu	37	12	43821235	43821235	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43821235G>T	ENST00000389420.3	-	27	3982	c.3983C>A	c.(3982-3984)gCt>gAt	p.A1328D	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1328D|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A446D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20			95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)			GCAGACCACAGCCCTATGCTG	0.473000																								0							SO:0001583	missense			ENST00000389420.3	0	1	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157116	0.57259	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61040	0.14;0.64;0.64;0.14	4.72	-1.94	0.07571	.	0.744776	0.11477	N	0.560154	T	0.49932	0.1586	N	0.21282	0.65	0.38356	D	0.944463	B;P	0.38473	0.11;0.633	B;P	0.48770	0.155;0.589	T	0.50980	-0.8763	10	0.41790	T	0.15	.	9.9186	0.41450	0.6293:0.0:0.3707:0.0	.	1328;446	P59510;E9PBD5	ATS20_HUMAN;.	D	1328;458;446;1328;1328	ENSP00000374071:A1328D;ENSP00000447427:A458D;ENSP00000378911:A446D;ENSP00000448341:A1328D	ENSP00000374068:A1328D	A	-	2	0	ADAMTS20	42107502	0.999000	0.42202	0.265000	0.24526	0.885000	0.51271	2.340000	0.43974	-0.435000	0.07264	-0.312000	0.09012	GCT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	0	0	0	16	145	1	40		0	0	0	1	40	2		0	0	0	0	0	2	1	7.109679e-01	16	145	1	40	14								-19.999480	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.710000	1.000000	1.000000	0.969498	0.990000	1	9.300000e-01	1
CCND2	894	broad.mit.edu	37	12	4385201	4385201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385201G>A	ENST00000261254.3	+	2	495	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2			17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		CGAAGAAGAGGTCTTCCCTCT	0.547000			T	IGL@	NHL,CLL										Dom	yes		12	12p13	894	cyclin D2		L	0							SO:0001583	missense			ENST00000261254.3	1	1	hg19	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432156	0.83776	.	.	ENSG00000118971	ENST00000261254	T	0.18810	2.19	5.15	5.15	0.70609	Cyclin, N-terminal (2);Cyclin-like (3);	0.182655	0.47852	D	0.000210	T	0.40791	0.1131	M	0.88906	2.99	0.80722	D	1	P	0.38767	0.646	B	0.43274	0.414	T	0.49570	-0.8926	10	0.56958	D	0.05	.	17.6686	0.88210	0.0:0.0:1.0:0.0	.	76	P30279	CCND2_HUMAN	I	76	ENSP00000261254:V76I	ENSP00000261254:V76I	V	+	1	0	CCND2	4255462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.768000	0.98965	2.423000	0.82170	0.555000	0.69702	GTC		TCGA-IB-7651-01A-11D-2154-08	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	1	0	1	62	280	0	108	0	9.993601e-01	0	52	0	108	2		0	0	0	0	0	2	1	1	62	267	0	108	2								-20.000000	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCND2	894	broad.mit.edu	37	12	4385275	4385275	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385275C>T	ENST00000261254.3	+	2	569	c.300C>T	c.(298-300)ctC>ctT	p.L100L	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2			17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		ATCTGCAACTCCTGGGTGCTG	0.562000			T	IGL@	NHL,CLL										Dom	yes		12	12p13	894	cyclin D2		L	0							SO:0001819	synonymous_variant			ENST00000261254.3	1	1	hg19	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691942	0.48097	.	.	ENSG00000118971	ENST00000536537	.	.	.	5.15	-4.5	0.03493	.	.	.	.	.	T	0.47078	0.1426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47302	-0.9128	4	.	.	.	.	5.4715	0.16672	0.0872:0.2265:0.4763:0.2101	.	.	.	.	S	16	.	.	P	+	1	0	CCND2	4255536	0.923000	0.31300	0.990000	0.47175	0.991000	0.79684	-0.030000	0.12308	-0.393000	0.07739	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	1	0	1	65	284	0	102	1	9.999969e-01	19	65	0	102	2		0	0	0	0	0	2	1	1	64	273	0	101	2								-3.283384	1	0	121412	1	30	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS20	80070	broad.mit.edu	37	12	43886389	43886389	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43886389T>G	ENST00000389420.3	-	6	994	c.995A>C	c.(994-996)aAc>aCc	p.N332T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20			95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)			TGAACAAAAGTTCTTTAATGT	0.363000																								0							SO:0001583	missense			ENST00000389420.3	1	1	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588289	0.46110	0.0	1.16E-4	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.87179	-2.22;-2.22	4.79	3.65	0.41850	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000058	D	0.92031	0.7475	M	0.88775	2.98	0.80722	D	1	D	0.53885	0.963	P	0.56216	0.794	D	0.92147	0.5725	10	0.72032	D	0.01	.	10.5595	0.45138	0.0:0.0772:0.0:0.9228	.	332	P59510	ATS20_HUMAN	T	332	ENSP00000374071:N332T;ENSP00000448341:N332T	ENSP00000374068:N332T	N	-	2	0	ADAMTS20	42172656	1.000000	0.71417	0.922000	0.36590	0.027000	0.11550	4.622000	0.61240	0.940000	0.37473	0.455000	0.32223	AAC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	1	0	1	29	136	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	27	130	0	30	2								-17.771310	1	1	121412	2	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
PUS7L	83448	broad.mit.edu	37	12	44148466	44148466	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44148466T>C	ENST00000416848.2	-	2	1071	c.583A>G	c.(583-585)Att>Gtt	p.I195V	PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like			32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)			TTTACAACAATTTCACTGTTT	0.323000																								0							SO:0001583	missense			ENST00000416848.2	1	1	hg19	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	9.974	1.226412	0.22542	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24538	1.98;1.98;1.98;1.85	5.08	2.65	0.31530	Pseudouridine synthase, catalytic domain (1);	0.210827	0.48767	N	0.000162	T	0.12561	0.0305	N	0.17872	0.535	0.80722	D	1	B	0.15141	0.012	B	0.14023	0.01	T	0.13255	-1.0516	10	0.13470	T	0.59	-16.7902	5.653	0.17627	0.0:0.1542:0.143:0.7028	.	195	Q9H0K6	PUS7L_HUMAN	V	195	ENSP00000415899:I195V;ENSP00000343081:I195V;ENSP00000447706:I195V;ENSP00000446865:I195V	ENSP00000343081:I195V	I	-	1	0	PUS7L	42434733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.344000	0.44010	0.450000	0.26774	0.482000	0.46254	ATT		TCGA-IB-7651-01A-11D-2154-08	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	1	0	1	76	249	0	70	1	8.421663e-01	6	7	0	70	2		0	0	0	0	0	2	1	1	76	245	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRAK4	51135	broad.mit.edu	37	12	44166052	44166052	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44166052C>A	ENST00000448290.2	+	4	448	c.377C>A	c.(376-378)cCt>cAt	p.P126H	IRAK4_ENST00000431837.1_Missense_Mutation_p.P2H|IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H|IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)			AAACAGATGCCTTTCTGTGAC	0.373000																								0							SO:0001583	missense			ENST00000448290.2	1	1	hg19	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591258	0.46214	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77620	-1.07;-1.07;-1.11;-1.11	5.32	4.29	0.51040	.	0.571871	0.19382	N	0.115633	T	0.76140	0.3946	L	0.60455	1.87	0.09310	N	1	P	0.35821	0.523	B	0.42882	0.401	T	0.67730	-0.5595	10	0.46703	T	0.11	-1.4818	8.1865	0.31341	0.0:0.8597:0.0:0.1403	.	126	Q9NWZ3	IRAK4_HUMAN	H	2;2;126;126;126	ENSP00000408734:P2H;ENSP00000390327:P2H;ENSP00000390651:P126H;ENSP00000446490:P126H	ENSP00000349096:P126H	P	+	2	0	IRAK4	42452319	0.010000	0.17322	0.002000	0.10522	0.009000	0.06853	1.834000	0.39171	1.128000	0.42052	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1	1	0	1	58	283	0	81	1	9.988556e-01	10	42	0	81	2		0	0	0	0	0	2	1	1	58	277	0	81	2								-3.262115	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TWF1	5756	broad.mit.edu	37	12	44191256	44191256	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44191256C>T	ENST00000395510.2	-	7	739		c.e7-1		TWF1_ENST00000548315.1_Splice_Site|TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000552521.1_Splice_Site	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1			14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)			TATCTATTTCCTGCCAATAAG	0.299000																								0							SO:0001630	splice_region_variant			ENST00000395510.2	1	1	hg19	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005480	0.54254	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7243	0.91708	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TWF1	42477523	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	3.475000	0.53136	2.435000	0.82474	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	1	0	0	19	117	0	38	0	2.158273e-02	0	2	0	38	2		0	0	0	0	0	2	1	9.999942e-01	19	117	0	37	2								-11.527730	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.998625	0.990000	1	9.900000e-01	1
C12orf5	57103	broad.mit.edu	37	12	4460469	4460469	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4460469C>T	ENST00000179259.4	+	5	374	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5			10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		GCTAAGTGAGCTGAGGGCCAT	0.478000													Colon(1;100 192 35375 49454 52532)											0							SO:0001819	synonymous_variant			ENST00000179259.4	1	1	hg19	CCDS8525.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	1	0	0	39	265	0	65	1	9.999894e-01	32	88	0	65	2		0	0	0	0	0	2	1	1	38	264	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999269	0.990000	1	9.900000e-01	1
FGF23	8074	broad.mit.edu	37	12	4479908	4479908	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4479908C>T	ENST00000237837.1	-	3	502	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23			22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		CGTTTTCCAGCGTCTGGTGTT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000237837.1	1	1	hg19	CCDS8526.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1	1	0	1	88	593	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	87	580	0	141	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
FGF23	8074	broad.mit.edu	37	12	4488548	4488548	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4488548C>A	ENST00000237837.1	-	1	346	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23			22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		TGTAGATGGTCTGATGGGGTG	0.592000																								0							SO:0001583	missense			ENST00000237837.1	1	1	hg19	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238805	0.58995	.	.	ENSG00000118972	ENST00000237837	D	0.81579	-1.51	4.03	4.03	0.46877	.	0.175652	0.50627	D	0.000112	T	0.78117	0.4233	L	0.29908	0.895	0.40241	D	0.977963	D	0.71674	0.998	D	0.64144	0.922	T	0.75703	-0.3225	10	0.34782	T	0.22	-12.1447	4.8028	0.13305	0.0:0.7419:0.0:0.2581	.	67	Q9GZV9	FGF23_HUMAN	H	67	ENSP00000237837:Q67H	ENSP00000237837:Q67H	Q	-	3	2	FGF23	4358809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.843000	0.39259	2.532000	0.85374	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1	1	0	1	72	475	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	71	469	0	131	2								-20.000000	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
NELL2	4753	broad.mit.edu	37	12	44913879	44913879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913879G>A	ENST00000429094.2	-	19	2813	c.2309C>T	c.(2308-2310)aCc>aTc	p.T770I	NELL2_ENST00000437801.2_Missense_Mutation_p.T820I|NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)			65	Lung SC(27;0.192)	Lung NSC(34;0.144)			GCAAGTCTTGGTGATGTCATT	0.532000																								0							SO:0001583	missense			ENST00000429094.2	1	1	hg19	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545464	0.65198	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;T;D	0.82344	-1.54;-1.52;-1.22;-1.52;-1.54;-1.48;-1.6	5.07	3.96	0.45880	.	0.054960	0.64402	D	0.000001	D	0.82416	0.5032	L	0.57536	1.79	0.50313	D	0.999869	B;P;P;P;B	0.45827	0.19;0.738;0.867;0.79;0.311	B;B;P;B;B	0.48030	0.11;0.382;0.564;0.255;0.13	T	0.79455	-0.1796	10	0.19590	T	0.45	-11.0837	14.3728	0.66852	0.0845:0.0:0.9155:0.0	.	793;820;722;770;769	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	I	769;770;722;770;769;793;820	ENSP00000378866:T769I;ENSP00000390680:T770I;ENSP00000449332:T722I;ENSP00000394612:T770I;ENSP00000447927:T769I;ENSP00000327988:T793I;ENSP00000416341:T820I	ENSP00000327988:T793I	T	-	2	0	NELL2	43200146	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.603000	0.67619	2.325000	0.78763	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1	36	262	0	60	0	7.839015e-01	0	23	0	60	2		0	0	0	0	0	2	1	1	36	258	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999099	0.990000	1	9.900000e-01	1
NELL2	4753	broad.mit.edu	37	12	44913995	44913995	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913995A>G	ENST00000429094.2	-	19	2697	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	NELL2_ENST00000437801.2_Silent_p.C781C|NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000395487.2_Silent_p.C730C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000551601.1_Silent_p.C683C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)			65	Lung SC(27;0.192)	Lung NSC(34;0.144)			GCAGGGGCCAACAATCAACTT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000429094.2	1	1	hg19	CCDS8746.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1	12	97	0	25	0	7.198713e-01	0	22	0	25	2		0	0	0	0	0	2	1	9.992127e-01	12	95	0	25	2								-19.430690	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.730000	1.000000	1.000000	0.977114	0.990000	1	9.900000e-01	1
NELL2	4753	broad.mit.edu	37	12	45105088	45105088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45105088G>A	ENST00000429094.2	-	11	1680	c.1176C>T	c.(1174-1176)tgC>tgT	p.C392C	NELL2_ENST00000437801.2_Silent_p.C442C|NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000395487.2_Silent_p.C391C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000551601.1_Silent_p.C391C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)			65	Lung SC(27;0.192)	Lung NSC(34;0.144)			TACAAACTTTGCAACAGCTGT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000429094.2	1	1	hg19	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122990	0.20959	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	T	0.76652	0.4017	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74331	-0.3700	4	.	.	.	-14.136	20.0473	0.97613	0.0:0.0:1.0:0.0	.	.	.	.	V	136	.	.	A	-	2	0	NELL2	43391355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.307000	0.51888	2.722000	0.93159	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1	54	246	0	72	0	8.355270e-01	0	17	0	72	2		0	0	0	0	0	2	1	1	51	244	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NELL2	4753	broad.mit.edu	37	12	45173747	45173747	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45173747C>T	ENST00000429094.2	-	4	898	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	NELL2_ENST00000437801.2_Missense_Mutation_p.G182S|NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000551601.1_Missense_Mutation_p.G131S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)			65	Lung SC(27;0.192)	Lung NSC(34;0.144)			CGGTGACTGCCTGAGCGGTAA	0.468000																								0							SO:0001583	missense			ENST00000429094.2	1	1	hg19	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302698	0.60195	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.5	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.331335	0.34676	N	0.003768	T	0.70002	0.3174	N	0.17082	0.46	0.43740	D	0.996233	B;B;B;B;B;B	0.17038	0.016;0.02;0.016;0.006;0.005;0.011	B;B;B;B;B;B	0.23018	0.043;0.023;0.017;0.029;0.018;0.014	T	0.63541	-0.6614	10	0.25751	T	0.34	-15.9435	12.2547	0.54617	0.0:0.8608:0.0:0.1392	.	155;182;131;132;132;131	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	131;132;131;132;131;155;182;131;132;129	ENSP00000378866:G131S;ENSP00000390680:G132S;ENSP00000449332:G131S;ENSP00000394612:G132S;ENSP00000447927:G131S;ENSP00000327988:G155S;ENSP00000416341:G182S;ENSP00000447085:G132S;ENSP00000447384:G129S	ENSP00000327988:G155S	G	-	1	0	NELL2	43460014	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.002000	0.40835	1.327000	0.45338	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	1	0	1	115	529	0	120	1	4.978511e-01	4	5	0	120	2		0	0	0	0	0	2	1	1	111	520	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NELL2	4753	broad.mit.edu	37	12	45269691	45269691	+	Translation_Start_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45269691A>C	ENST00000429094.2	-	0	466				NELL2_ENST00000437801.2_Intron|NELL2_ENST00000549027.1_Intron|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000548826.1_De_novo_Start_OutOfFrame|NELL2_ENST00000551601.1_Intron	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)			65	Lung SC(27;0.192)	Lung NSC(34;0.144)			CCTCtttaaaaataaaaataa	0.448000																								0											ENST00000429094.2	0	1	hg19	CCDS8746.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	0	0	0	65	253	0	52	1	2.761211e-01	2	3	0	52	2		0	0	0	0	0	2	1	1	63	248	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DBX2	440097	broad.mit.edu	37	12	45429866	45429866	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45429866C>T	ENST00000332700.6	-	2	606	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2			22	Lung SC(27;0.192)	Lung NSC(34;0.142)			agtagaatggcggggtgctca	0.473000																								0							SO:0001819	synonymous_variant			ENST00000332700.6	1	1	hg19	CCDS31781.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	1	0	1	26	129	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	7.539197e-01	26	126	1	18	22								-15.636000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
C12orf4	57102	broad.mit.edu	37	12	4609488	4609488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4609488C>T	ENST00000261250.3	-	11	1343	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4			13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		ATTAGAATGCCGTGTAATATA	0.383000																								0							SO:0001583	missense			ENST00000261250.3	1	1	hg19	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	33	5.257807	0.95368	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.85399	0.1130	9	0.72032	D	0.01	.	19.7784	0.96405	0.0:1.0:0.0:0.0	.	419	Q9NQ89	CL004_HUMAN	Q	419	.	ENSP00000261250:R419Q	R	-	2	0	C12orf4	4479749	1.000000	0.71417	0.992000	0.48379	0.793000	0.44817	7.412000	0.80091	2.658000	0.90341	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	1	0	1	25	215	0	50	1	9.480686e-01	6	38	0	50	2		0	0	0	0	0	2	1	9.999999e-01	25	212	0	50	2								-2.879480	1	1	121412	7	38	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.780000	1.000000	1.000000	0.979004	0.990000	1	9.600000e-01	1
ARID2	196528	broad.mit.edu	37	12	46230589	46230589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46230589G>A	ENST00000334344.6	+	8	1010	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D131N|ARID2_ENST00000444670.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)			116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)		GGGCATTAACGATATTGAAGG	0.393000			N, S, F		hepatocellular carcinoma										Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0							SO:0001583	missense			ENST00000334344.6	1	1	hg19	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180385	0.94846	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.52754	0.65;0.65	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67047	-0.5769	10	0.72032	D	0.01	-13.3765	20.2009	0.98259	0.0:0.0:1.0:0.0	.	280	Q68CP9	ARID2_HUMAN	N	280;131	ENSP00000335044:D280N;ENSP00000415650:D131N	ENSP00000335044:D280N	D	+	1	0	ARID2	44516856	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.822000	0.99363	2.767000	0.95098	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	0	0	1	13	503	0	78	1	2.253773e-01	4	29	0	78	2		0	0	0	0	0	2	1	9.994794e-01	13	493	0	78	2								-2.969824	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.310000	0.170000	1.000000	0.290000	0.361148	0.310000	0	2.300000e-01	4.300000e-01
ARID2	196528	broad.mit.edu	37	12	46233202	46233202	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46233202G>A	ENST00000334344.6	+	11	1593	c.1421G>A	c.(1420-1422)aGt>aAt	p.S474N	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)			116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)		CCAAGTTCCAGTCATCAAATG	0.403000			N, S, F		hepatocellular carcinoma										Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0							SO:0001583	missense			ENST00000334344.6	1	1	hg19	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012622	0.35511	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.31510	1.49	5.09	0.249	0.15531	.	0.491901	0.23801	N	0.044436	T	0.11922	0.0290	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-0.8804	4.9068	0.13802	0.3033:0.2931:0.4036:0.0	.	474;325;474	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	N	474;325;84	ENSP00000335044:S474N	ENSP00000335044:S474N	S	+	2	0	ARID2	44519469	0.998000	0.40836	0.998000	0.56505	0.981000	0.71138	0.597000	0.24059	0.205000	0.20568	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	1	0	1	110	453	0	113	1	9.973758e-01	10	29	0	113	2		0	0	0	0	0	2	1	1	108	444	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARID2	196528	broad.mit.edu	37	12	46254587	46254587	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46254587A>G	ENST00000334344.6	+	16	4949	c.4777A>G	c.(4777-4779)Act>Gct	p.T1593A	ARID2_ENST00000457135.1_Missense_Mutation_p.T201A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)			116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)		TTCACAGAACACTCCTATGCC	0.393000			N, S, F		hepatocellular carcinoma										Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0							SO:0001583	missense			ENST00000334344.6	1	1	hg19	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.865393	0.51588	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T;T	0.34072	1.38;1.57	5.86	5.86	0.93980	.	0.157958	0.56097	D	0.000029	T	0.38214	0.1032	L	0.44542	1.39	0.40793	D	0.983272	B;B;B	0.33022	0.394;0.394;0.15	B;B;B	0.37650	0.255;0.12;0.041	T	0.29243	-1.0018	10	0.56958	D	0.05	-15.3707	16.2644	0.82568	1.0:0.0:0.0:0.0	.	1593;1203;1593	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1593;710;710;1444;1203;201	ENSP00000335044:T1593A;ENSP00000388357:T201A	ENSP00000335044:T1593A	T	+	1	0	ARID2	44540854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.876000	0.48498	2.244000	0.73946	0.528000	0.53228	ACT		TCGA-IB-7651-01A-11D-2154-08	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	1	0	1	44	216	0	40	1	9.989787e-01	11	43	0	40	2		0	0	0	0	0	2	1	1	42	207	0	40	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C12orf4	57102	broad.mit.edu	37	12	4634664	4634664	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4634664A>C	ENST00000261250.3	-	5	679	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4			13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		TGGGATTCAAAATGCTGAGCA	0.318000																								0							SO:0001583	missense			ENST00000261250.3	1	1	hg19	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614009	0.87359	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	L	0.53729	1.69	0.80722	D	1	D	0.67145	0.996	D	0.65684	0.937	T	0.77167	-0.2687	9	0.87932	D	0	.	15.6397	0.76989	1.0:0.0:0.0:0.0	.	198	Q9NQ89	CL004_HUMAN	V	198;198;25	.	ENSP00000261250:F198V	F	-	1	0	C12orf4	4504925	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.645000	0.91049	2.150000	0.67090	0.455000	0.32223	TTT		TCGA-IB-7651-01A-11D-2154-08	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	1	0	1	58	334	0	61	1	9.577260e-01	5	27	0	61	2		0	0	0	0	0	2	1	1	57	332	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
RAD51AP1	10635	broad.mit.edu	37	12	4652985	4652985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4652985G>T	ENST00000544927.1	+	3	134	c.124G>T	c.(124-126)Gag>Tag	p.E42*	RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000228843.9_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*					RAD51 associated protein 1			13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		AGCACCAAAGGAGTTAAAACA	0.328000																								0							SO:0001587	stop_gained			ENST00000544927.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.934364|3.934364	0.73442|0.73442	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	.|.	.|.	.|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.575521|.	0.18618|.	N|.	0.135962|.	.|T	.|0.70378	.|0.3217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70040	.|-0.4981	.|4	0.13853|.	T|.	0.58|.	-7.1602|-7.1602	14.5515|14.5515	0.68070|0.68070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	42|36	.|.	ENSP00000228843:E42X|.	E|G	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4523246|4523246	0.998000|0.998000	0.40836|0.40836	0.298000|0.298000	0.25002|0.25002	0.354000|0.354000	0.29330|0.29330	5.119000|5.119000	0.64679|0.64679	2.181000|2.181000	0.69327|0.69327	0.585000|0.585000	0.79938|0.79938	GAG|GGA		TCGA-IB-7651-01A-11D-2154-08	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	1	0	1	44	196	0	74	1	9.917060e-01	15	21	0	74	2		0	0	0	0	0	2	1	1	45	192	0	73	2								-3.217934	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SLC38A1	81539	broad.mit.edu	37	12	46591706	46591706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46591706G>A	ENST00000398637.5	-	15	1954	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000552197.1_Silent_p.V420V|SLC38A1_ENST00000549049.1_Silent_p.V420V|SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000549633.1_5'Flank	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1			23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		CCATACCTACGACTCCAAAAA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000398637.5	1	1	hg19	CCDS41774.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2	1	0	1	61	216	0	52	1	9.999908e-01	18	46	0	52	2		0	0	0	0	0	2	1	1	60	211	0	52	2								-4.046360	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A2	54407	broad.mit.edu	37	12	46758265	46758265	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46758265G>T	ENST00000256689.5	-	10	1224	c.780C>A	c.(778-780)acC>acA	p.T260T	SLC38A2_ENST00000551374.1_Silent_p.T98T|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2			18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)		GCTGTGTTAAGGTGGTGTTTA	0.368000													Ovarian(9;448 492 8335 28722 40361)											0							SO:0001819	synonymous_variant			ENST00000256689.5	1	1	hg19	CCDS8749.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1	1	0	0	98	1096	0	232	1	1	33	453	0	232	2		0	0	0	0	0	2	1	1	97	1074	0	230	2								-3.221883	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.970000	0.790000	1.000000	1.000000	0.952578	0.970000	1	8.800000e-01	1
DYRK4	8798	broad.mit.edu	37	12	4708305	4708305	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4708305G>T	ENST00000540757.2	+	7	832	c.672G>T	c.(670-672)gaG>gaT	p.E224D	DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D|DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4			27			Colorectal(7;0.103)		TTTCGGTAGAGAAAATCATTC	0.458000																								0							SO:0001583	missense			ENST00000540757.2	1	1	hg19	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458111	0.63401	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.66939	2.045	0.80722	D	1	D;P;P	0.63880	0.993;0.93;0.888	D;P;P	0.63488	0.915;0.646;0.661	T	0.76806	-0.2823	10	0.51188	T	0.08	.	9.6876	0.40109	0.1571:0.0:0.8429:0.0	.	339;224;224	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	D	339;224;224;224	ENSP00000437534:E339D;ENSP00000441755:E224D;ENSP00000010132:E224D;ENSP00000439697:E224D	ENSP00000010132:E224D	E	+	3	2	DYRK4	4578566	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	1.103000	0.31062	2.467000	0.83353	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2	1	0	1	80	348	0	82	0	9.334259e-02	0	3	0	82	2		0	0	0	0	0	2	1	1	79	344	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYRK4	8798	broad.mit.edu	37	12	4714099	4714099	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4714099C>T	ENST00000540757.2	+	9	961	c.801C>T	c.(799-801)agC>agT	p.S267S	DYRK4_ENST00000543431.1_Silent_p.S267S|RP11-500M8.7_ENST00000536588.1_5'Flank|DYRK4_ENST00000010132.5_Silent_p.S267S|DYRK4_ENST00000545342.1_5'Flank	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4			27			Colorectal(7;0.103)		ACATCCAAAGCCGGTTCTACC	0.562000											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000540757.2	1	1	hg19	CCDS8530.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2	1	0	0	15	318	0	76	0	3.684607e-01	0	27	0	76	2		0	0	0	0	0	2	1	9.998596e-01	15	311	0	74	2								-4.551622	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.510000	0.300000	0.790000	0.510000	0.532799	0.510000	0	3.900000e-01	6.600000e-01
SLC38A4	55089	broad.mit.edu	37	12	47168916	47168916	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47168916C>T	ENST00000447411.1	-	13	1421	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	SLC38A4_ENST00000266579.4_Silent_p.V405V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4			21	Lung SC(27;0.192)|Renal(347;0.236)				CTAATGTATACACTTTGCTGT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000447411.1	1	1	hg19	CCDS8750.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1	1	0	1	83	409	0	80	0	6.704808e-01	0	13	0	80	2		0	0	0	0	0	2	1	1	82	402	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A4	55089	broad.mit.edu	37	12	47173814	47173814	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47173814C>T	ENST00000447411.1	-	7	700		c.e7-1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4			21	Lung SC(27;0.192)|Renal(347;0.236)				CTTGACATTGCTAAAATGGAA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000447411.1	1	1	hg19	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310032	0.81247	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A4	45460081	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1	1	0	1	74	317	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	74	312	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP3	10566	broad.mit.edu	37	12	4737071	4737071	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4737071G>T	ENST00000545990.2	-	5	1521	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3			51					GAGTCGATGAGATCCGAGACC	0.483000																								0							SO:0001583	missense			ENST00000545990.2	1	1	hg19	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122344	0.77436	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.14516	2.5;2.5	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000031	T	0.40862	0.1134	M	0.78801	2.425	0.36442	D	0.865521	D	0.76494	0.999	D	0.85130	0.997	T	0.45789	-0.9237	10	0.87932	D	0	-20.967	17.0413	0.86490	0.0:0.0:1.0:0.0	.	333	O75969	AKAP3_HUMAN	I	333	ENSP00000228850:L333I;ENSP00000440994:L333I	ENSP00000228850:L333I	L	-	1	0	AKAP3	4607332	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	3.569000	0.53827	2.828000	0.97474	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	1	0	1	42	242	0	46	1	3.436250e-01	3	5	0	46	2		0	0	0	0	0	2	1	1	42	240	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
NDUFA9	4704	broad.mit.edu	37	12	4796197	4796197	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4796197C>A	ENST00000266544.5	+	11	1077	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa			21					CATTGAGGTGCTGCGGCGTCA	0.522000													Colon(75;996 1244 23946 25294 29232)											0							SO:0001583	missense			ENST00000266544.5	1	1	hg19	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776740	0.70107	.	.	ENSG00000139180	ENST00000266544;ENST00000540688	D;D	0.85702	-1.54;-2.02	5.23	3.27	0.37495	.	0.070231	0.64402	D	0.000017	D	0.83991	0.5374	M	0.69463	2.115	0.54753	D	0.999987	D	0.63880	0.993	P	0.46975	0.533	D	0.84522	0.0628	10	0.72032	D	0.01	-10.6984	8.8668	0.35291	0.149:0.7701:0.0:0.081	.	353	Q16795	NDUA9_HUMAN	M	353;112	ENSP00000266544:L353M;ENSP00000439818:L112M	ENSP00000266544:L353M	L	+	1	2	NDUFA9	4666458	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.571000	0.36450	1.331000	0.45412	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	1	0	1	42	140	0	37	1	1	106	243	0	37	2		0	0	0	0	0	2	1	1	42	139	0	37	2								-20.000000	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPAP3	79657	broad.mit.edu	37	12	48073291	48073291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48073291C>T	ENST00000005386.3	-	12	1387	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_ENST00000380650.4_Intron|RPAP3_ENST00000432584.3_Silent_p.P265P	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3			16	Lung SC(27;0.192)				ATCCAGGATGCGGTGGATTAT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000005386.3	1	1	hg19	CCDS8753.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	1	0	1	30	153	0	34	1	9.999311e-01	13	67	0	34	2		0	0	0	0	0	2	1	1	30	148	0	34	2								-3.198844	1	1	121362	11	34	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
RPAP3	79657	broad.mit.edu	37	12	48075569	48075569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48075569C>T	ENST00000005386.3	-	10	1139	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T|RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3			16	Lung SC(27;0.192)				AATAAAATGGCTTGTGTGCAG	0.338000																								0							SO:0001583	missense			ENST00000005386.3	1	1	hg19	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226288	0.95173	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.74002	-0.8;-0.8;-0.8	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.104094	0.64402	D	0.000003	D	0.89441	0.6716	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.91390	0.5134	10	0.87932	D	0	.	18.4725	0.90779	0.0:1.0:0.0:0.0	.	342;342	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	T	342;183;342	ENSP00000005386:A342T;ENSP00000401823:A183T;ENSP00000370024:A342T	ENSP00000005386:A342T	A	-	1	0	RPAP3	46361836	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	7.239000	0.78182	2.689000	0.91719	0.460000	0.39030	GCC		TCGA-IB-7651-01A-11D-2154-08	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	1	0	1	41	207	0	45	1	9.999212e-01	13	62	0	45	2		0	0	0	0	0	2	1	1	41	202	0	44	2								-19.995170	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48110168C>A	ENST00000422538.3	-	6	788	c.666G>T	c.(664-666)caG>caT	p.Q222H	ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame|ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific			14					CGGCCAGCTCCTGGGCACTGA	0.562000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000422538.3	1	0	hg19	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634583	0.29068	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32515	1.45;1.46	6.06	5.16	0.70880	.	0.278254	0.43260	D	0.000585	T	0.32526	0.0832	L	0.56396	1.775	0.80722	D	1	B;B;P	0.38745	0.447;0.444;0.645	B;B;B	0.40982	0.143;0.345;0.234	T	0.12041	-1.0563	10	0.54805	T	0.06	-32.8867	9.3973	0.38410	0.1423:0.7846:0.0:0.0732	.	159;222;181	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	H	181;222;159	ENSP00000229003:Q181H;ENSP00000397679:Q222H	ENSP00000229003:Q181H	Q	-	3	2	ENDOU	46396435	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.082000	0.41605	1.548000	0.49413	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	1	0	1	57	291	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	1	53	282	0	75	2								-3.096804	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF3	10411	broad.mit.edu	37	12	48134179	48134179	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48134179C>A	ENST00000449771.2	-	22	2320		c.e22-1		RAPGEF3_ENST00000548919.1_Intron|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000405493.2_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site|RAPGEF3_ENST00000549151.1_Splice_Site			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3			25	Lung SC(27;0.192)				CTCCTTGAGGCTGTGAGCAGA	0.582000																								0							SO:0001630	splice_region_variant			ENST00000449771.2	1	1	hg19	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584798	0.65992	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1893	0.81975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF3	46420446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.123000	0.77176	2.472000	0.83506	0.644000	0.83932	.		TCGA-IB-7651-01A-11D-2154-08	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	1	0	0	42	193	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	42	186	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF3	10411	broad.mit.edu	37	12	48141337	48141337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48141337G>A	ENST00000449771.2	-	15	1634	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*	RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000405493.2_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3			25	Lung SC(27;0.192)				CTGTGGCATCGCCGCCTCTCT	0.537000																								0							SO:0001587	stop_gained			ENST00000449771.2	0	1	hg19	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	37	6.577103	0.97676	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	.	.	.	4.37	3.47	0.39725	.	0.277746	0.27068	N	0.021096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8775	0.41213	0.0:0.0:0.7967:0.2033	.	.	.	.	X	474;516;163;474;474;474;516;528;474;516	.	ENSP00000171000:R474X	R	-	1	2	RAPGEF3	46427604	0.998000	0.40836	1.000000	0.80357	0.467000	0.32768	1.438000	0.35002	1.420000	0.47138	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	1	0	1	58	271	0	74	0	8.496829e-01	0	18	0	74	2		0	0	0	0	0	2	1	1	57	263	0	73	2								-3.213646	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDAC7	51564	broad.mit.edu	37	12	48185667	48185667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48185667C>T	ENST00000427332.2	-	14	1838	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R600Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7			25					ACACTGGCTCCGGAGCCCCCG	0.706000																								0							SO:0001583	missense			ENST00000427332.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.679823|4.679823	0.88542|0.88542	.|.	.|.	ENSG00000061273|ENSG00000061273	ENST00000548080|ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	.|T;T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44;-0.44	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|0.057425	.|0.64402	.|D	.|0.000002	T|T	0.58878|0.58878	0.2153|0.2153	L|L	0.35793|0.35793	1.09|1.09	0.45791|0.45791	D|D	0.998671|0.998671	.|B;P;D	.|0.62365	.|0.443;0.688;0.991	.|B;B;B	.|0.43867	.|0.081;0.014;0.434	T|T	0.62110|0.62110	-0.6923|-0.6923	5|10	.|0.48119	.|T	.|0.1	.|.	14.2362|14.2362	0.65929|0.65929	0.1505:0.8495:0.0:0.0|0.1505:0.8495:0.0:0.0	.|.	.|600;583;563	.|Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.|.;.;.	R|Q	41|600;563;583;617;561	.|ENSP00000080059:R600Q;ENSP00000351326:R563Q;ENSP00000448532:R583Q;ENSP00000369984:R617Q;ENSP00000404394:R561Q	.|ENSP00000080059:R600Q	G|R	-|-	1|2	0|0	HDAC7|HDAC7	46471934|46471934	0.896000|0.896000	0.30565|0.30565	0.921000|0.921000	0.36526|0.36526	0.984000|0.984000	0.73092|0.73092	2.420000|2.420000	0.44679|0.44679	1.315000|1.315000	0.45114|0.45114	0.558000|0.558000	0.71614|0.71614	GGA|CGG		TCGA-IB-7651-01A-11D-2154-08	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2	1	0	0	33	140	0	21	1	1	24	106	0	21	2		0	0	0	0	0	2	1	1	32	135	0	20	2								-20.000000	1	1	120934	1	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HDAC7	51564	broad.mit.edu	37	12	48188548	48188548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188548G>A	ENST00000427332.2	-	12	1492	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000080059.7_Missense_Mutation_p.P485S|HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7			25					CATACCTGAGGGTGCTGCTGG	0.657000																								0							SO:0001583	missense			ENST00000427332.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.617	0.114730	0.08831	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.53206	0.64;0.64;0.65;0.63;0.65	4.9	4.9	0.64082	.	0.653207	0.14765	N	0.299758	T	0.27027	0.0662	N	0.08118	0	0.20307	N	0.999919	B;B;B	0.17852	0.024;0.007;0.011	B;B;B	0.17433	0.018;0.012;0.013	T	0.07597	-1.0764	10	0.11485	T	0.65	.	12.9805	0.58562	0.0:0.0:0.8377:0.1623	.	485;468;448	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	S	485;448;468;502;446	ENSP00000080059:P485S;ENSP00000351326:P448S;ENSP00000448532:P468S;ENSP00000369984:P502S;ENSP00000404394:P446S	ENSP00000080059:P485S	P	-	1	0	HDAC7	46474815	1.000000	0.71417	0.999000	0.59377	0.275000	0.26752	6.763000	0.74955	2.418000	0.82041	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2	1	0	1	48	225	0	54	1	9.999991e-01	21	80	0	54	2		0	0	0	0	0	2	1	1	47	224	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDAC7	51564	broad.mit.edu	37	12	48188688	48188688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188688C>T	ENST00000427332.2	-	12	1352	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R438Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7			25					CTGCCGCAGCCGGGGCTTCTC	0.687000																								0							SO:0001583	missense			ENST00000427332.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397265	0.83120	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.58506	0.42;0.33;0.43;0.4;0.44	4.5	3.57	0.40892	.	0.664644	0.13526	N	0.381323	T	0.71056	0.3295	L	0.55481	1.735	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.70156	-0.4949	10	0.62326	D	0.03	.	12.8923	0.58078	0.1646:0.8354:0.0:0.0	.	438;421;401	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	Q	438;401;421;455;399	ENSP00000080059:R438Q;ENSP00000351326:R401Q;ENSP00000448532:R421Q;ENSP00000369984:R455Q;ENSP00000404394:R399Q	ENSP00000080059:R438Q	R	-	2	0	HDAC7	46474955	0.996000	0.38824	0.995000	0.50966	0.970000	0.65996	3.544000	0.53640	1.122000	0.41944	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2	0	0	0	17	756	0	110	1	5.702688e-01	2	82	0	110	2		0	0	0	0	0	2	1	9.999597e-01	17	744	0	108	2								-2.825764	1	1	121402	1	32	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.260000	0.150000	1.000000	0.260000	0.320179	0.260000	0	2.000000e-01	3.600000e-01
VDR	7421	broad.mit.edu	37	12	48238712	48238712	+	Silent	SNP	G	G	A	rs75590999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48238712G>A	ENST00000395324.2	-	10	1369	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	VDR_ENST00000549336.1_Silent_p.I367I|VDR_ENST00000535672.1_Silent_p.I335I|VDR_ENST00000550325.1_Silent_p.I417I|VDR_ENST00000229022.3_Silent_p.I367I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor			22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGGCAGCGGATGTACGTCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000395324.2	1	1	hg19	CCDS8757.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1	1	0	1	122	594	0	115	1	1	41	93	0	115	2		0	0	0	0	0	2	1	1	121	586	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM106C	79022	broad.mit.edu	37	12	48359923	48359923	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48359923C>A	ENST00000429772.2	+	5	576	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L84M|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C			14		Acute lymphoblastic leukemia(13;0.11)			AGTGACCAGCCTGTCCAGCCA	0.507000																								0							SO:0001583	missense			ENST00000429772.2	1	1	hg19	CCDS8758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.01|12.01	1.808750|1.808750	0.31961|0.31961	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000546749;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640|ENST00000547682	T;T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	4.68|4.68	2.85|2.85	0.33270|0.33270	.|.	0.083089|.	0.49305|.	D|.	0.000153|.	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.59436|0.59436	1.845|1.845	0.42755|0.42755	D|D	0.993789|0.993789	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.72338|.	0.977;0.962|.	T|T	0.64786|0.64786	-0.6325|-0.6325	10|5	0.49607|.	T|.	0.09|.	-0.3909|-0.3909	13.7439|13.7439	0.62863|0.62863	0.0:0.8537:0.0:0.1463|0.0:0.8537:0.0:0.1463	.|.	155;155|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	M|H	155;155;19;84;155;155;155;84|41	ENSP00000256686:L155M;ENSP00000446657:L155M;ENSP00000446622:L19M;ENSP00000448268:L84M;ENSP00000449737:L155M;ENSP00000400471:L155M;ENSP00000402705:L155M;ENSP00000447254:L84M|.	ENSP00000256686:L155M|.	L|P	+|+	1|2	2|0	TMEM106C|TMEM106C	46646190|46646190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	0.709000|0.709000	0.25734|0.25734	0.466000|0.466000	0.27193|0.27193	-0.797000|-0.797000	0.03246|0.03246	CTG|CCT		TCGA-IB-7651-01A-11D-2154-08	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	1	0	0	16	294	0	73	1	9.999965e-01	35	393	0	73	2		0	0	0	0	0	2	1	9.999286e-01	16	288	0	71	2								-3.324837	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.630000	0.370000	1.000000	0.600000	0.658081	0.630000	0	4.800000e-01	8.300000e-01
COL2A1	1280	broad.mit.edu	37	12	48371104	48371104	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48371104G>A	ENST00000380518.3	-	46	3436	c.3272C>T	c.(3271-3273)gCt>gTt	p.A1091V	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.A1022V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1			64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)		Collagenase(DB00048)	GATACTTACAGCTTCTCCTCT	0.632000																								0							SO:0001630	splice_region_variant			ENST00000380518.3	0	1	hg19	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471800	0.63737	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93488	-3.23;-3.23	5.15	5.15	0.70609	.	0.660669	0.14187	N	0.335623	D	0.90676	0.7075	L	0.38838	1.175	0.33794	D	0.62586	B;B	0.25609	0.13;0.079	B;B	0.21546	0.035;0.015	D	0.90927	0.4787	10	0.62326	D	0.03	.	18.2304	0.89933	0.0:0.0:1.0:0.0	.	1022;1091	P02458-1;P02458	.;CO2A1_HUMAN	V	1091;1022;1022	ENSP00000369889:A1091V;ENSP00000338213:A1022V	ENSP00000338213:A1022V	A	-	2	0	COL2A1	46657371	0.974000	0.33945	1.000000	0.80357	0.940000	0.58332	5.290000	0.65661	2.401000	0.81631	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	0	0	0	9	405	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	9.940758e-01	9	401	0	66	2								-8.364173	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.270000	0.130000	1.000000	0.260000	0.327733	0.270000	0	1.900000e-01	4.000000e-01
COL2A1	1280	broad.mit.edu	37	12	48391959	48391959	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48391959A>G	ENST00000380518.3	-	4	499	c.335T>C	c.(334-336)aTc>aCc	p.I112T	COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1			64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)		Collagenase(DB00048)	TACATCCTTGATGTCTCCAGG	0.483000																								0							SO:0001583	missense			ENST00000380518.3	1	1	hg19	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153460	0.57259	.	.	ENSG00000139219	ENST00000380518;ENST00000337299	D;D	0.93366	-3.21;-3.21	5.04	5.04	0.67666	.	.	.	.	.	D	0.86867	0.6036	N	0.25286	0.73	0.54753	D	0.999985	P;B	0.36535	0.557;0.421	B;B	0.28305	0.088;0.059	D	0.88114	0.2827	9	0.72032	D	0.01	.	14.0685	0.64847	1.0:0.0:0.0:0.0	.	43;112	P02458-1;P02458	.;CO2A1_HUMAN	T	112;43	ENSP00000369889:I112T;ENSP00000338213:I43T	ENSP00000338213:I43T	I	-	2	0	COL2A1	46678226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.801000	0.91905	2.047000	0.60756	0.454000	0.30748	ATC		TCGA-IB-7651-01A-11D-2154-08	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	1	0	1	80	324	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	79	316	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFKM	5213	broad.mit.edu	37	12	48537573	48537573	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48537573C>A	ENST00000312352.7	+	19	1895	c.1856C>A	c.(1855-1857)aCt>aAt	p.T619N	PFKM_ENST00000340802.6_Missense_Mutation_p.T690N|PFKM_ENST00000359794.5_Missense_Mutation_p.T619N|PFKM_ENST00000547587.1_Missense_Mutation_p.T619N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N|PFKM_ENST00000551804.1_Missense_Mutation_p.T588N	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle			35					ATGAAAACAACTGTGAAAAGG	0.383000																								0							SO:0001583	missense			ENST00000312352.7	1	1	hg19	CCDS8760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.897081|2.897081	0.52121|0.52121	.|.	.|.	ENSG00000152556|ENSG00000152556	ENST00000553055|ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	.|T;T;T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Phosphofructokinase domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69115|0.69115	0.3075|0.3075	N|N	0.11724|0.11724	0.165|0.165	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.10296	.|0.003;0.0;0.001	.|B;B;B	.|0.17722	.|0.019;0.009;0.003	T|T	0.64466|0.64466	-0.6401|-0.6401	5|10	.|0.48119	.|T	.|0.1	-5.2747|-5.2747	18.429|18.429	0.90618|0.90618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|588;619;690	.|P08237-2;P08237;Q6ZTT1	.|.;K6PF_HUMAN;.	K|N	44|690;619;588;588;619;619	.|ENSP00000345771:T690N;ENSP00000352842:T619N;ENSP00000378656:T588N;ENSP00000448177:T588N;ENSP00000449426:T619N;ENSP00000309438:T619N	.|ENSP00000309438:T619N	N|T	+|+	3|2	2|0	PFKM|PFKM	46823840|46823840	0.395000|0.395000	0.25254|0.25254	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.493000|1.493000	0.35605|0.35605	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	AAC|ACT		TCGA-IB-7651-01A-11D-2154-08	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	0	0	0	15	433	0	93	1	9.846651e-01	16	184	0	93	2		0	0	0	0	0	2	1	9.998555e-01	15	424	0	92	2								-3.575035	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.410000	0.230000	1.000000	0.390000	0.454266	0.410000	0	3.100000e-01	5.500000e-01
PFKM	5213	broad.mit.edu	37	12	48538862	48538862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48538862G>A	ENST00000312352.7	+	21	2080	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	PFKM_ENST00000340802.6_Missense_Mutation_p.A752T|PFKM_ENST00000359794.5_Missense_Mutation_p.A681T|PFKM_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle			35					TAAGATGGGCGCCAAGGCTAT	0.483000																								0							SO:0001583	missense			ENST00000312352.7	1	1	hg19	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665671	0.88251	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.05	5.05	0.67936	Phosphofructokinase domain (2);	0.109437	0.64402	D	0.000008	D	0.84575	0.5502	M	0.79926	2.475	0.80722	D	1	P;P;D	0.60160	0.556;0.849;0.987	B;B;P	0.47941	0.187;0.375;0.562	D	0.83886	0.0282	10	0.30078	T	0.28	-19.231	18.5901	0.91208	0.0:0.0:1.0:0.0	.	650;681;752	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	T	752;681;650;650;681;681	ENSP00000345771:A752T;ENSP00000352842:A681T;ENSP00000378656:A650T;ENSP00000448177:A650T;ENSP00000449426:A681T;ENSP00000309438:A681T	ENSP00000309438:A681T	A	+	1	0	PFKM	46825129	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	5.542000	0.67218	2.793000	0.96121	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	1	0	1	54	324	0	94	1	1	48	197	0	94	2		0	0	0	0	0	2	1	1	53	320	0	93	2								-2.967615	1	1	121412	4	41	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
H1FNT	341567	broad.mit.edu	37	12	48723547	48723547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48723547G>A	ENST00000335017.1	+	1	785	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific			13					CGGAGGCGCCGCCAGCCCCTT	0.716000																								0							SO:0001583	missense			ENST00000335017.1	1	1	hg19	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714486	0.48622	.	.	ENSG00000187166	ENST00000335017	T	0.18810	2.19	4.83	-1.92	0.07618	.	0.851979	0.09573	N	0.783862	T	0.14399	0.0348	L	0.43152	1.355	0.09310	N	1	B	0.30211	0.273	B	0.20184	0.028	T	0.20739	-1.0266	10	0.52906	T	0.07	-2.4843	6.1284	0.20192	0.238:0.3845:0.3775:0.0	.	158	Q75WM6	H1FNT_HUMAN	H	158	ENSP00000334805:R158H	ENSP00000334805:R158H	R	+	2	0	H1FNT	47009814	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.264000	0.18497	-0.333000	0.08476	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	1	0	0	17	62	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.999838e-01	17	62	0	14	2								-3.251467	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999946	0.990000	1	9.900000e-01	1
ZNF641	121274	broad.mit.edu	37	12	48736841	48736841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48736841C>T	ENST00000544117.2	-	6	1940	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q|ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q			Q96N77	ZN641_HUMAN	zinc finger protein 641			12					GTGATGTTTTCGGCCAAAGCT	0.562000																								0							SO:0001583	missense			ENST00000544117.2	1	1	hg19	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859147	0.71834	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.66	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.095436	0.47455	D	0.000237	T	0.17492	0.0420	L	0.41415	1.275	0.32144	N	0.585131	P;P	0.44478	0.836;0.496	B;B	0.29716	0.106;0.041	T	0.13229	-1.0517	10	0.07482	T	0.82	.	13.1879	0.59693	0.0:0.918:0.0:0.082	.	388;411	B4DNU5;Q96N77	.;ZN641_HUMAN	Q	411;411;388;397	ENSP00000301042:R411Q;ENSP00000437832:R411Q;ENSP00000394627:R388Q;ENSP00000449974:R397Q	ENSP00000301042:R411Q	R	-	2	0	ZNF641	47023108	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.443000	0.06862	2.824000	0.97209	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	1	0	1	103	487	0	119	1	9.917473e-01	4	33	0	119	2		0	0	0	0	0	2	1	1	101	475	0	119	2								-3.104250	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF641	121274	broad.mit.edu	37	12	48739206	48739206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48739206G>A	ENST00000544117.2	-	4	1078	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W			Q96N77	ZN641_HUMAN	zinc finger protein 641			12					TCCAGGCTCCGCCACTCCTCC	0.473000																								0							SO:0001583	missense			ENST00000544117.2	1	1	hg19	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401740	0.62288	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026;ENST00000548932	T;T;T;T	0.01871	4.59;4.59;4.59;4.59	5.54	3.57	0.40892	Krueppel-associated box (4);	0.110597	0.40908	D	0.000997	T	0.08179	0.0204	L	0.61387	1.9	0.40170	D	0.977168	D	0.89917	1.0	D	0.67103	0.949	T	0.03706	-1.1011	10	0.66056	D	0.02	.	8.8763	0.35348	0.0:0.2757:0.5714:0.1529	.	124	Q96N77	ZN641_HUMAN	W	124;124;110;124	ENSP00000301042:R124W;ENSP00000437832:R124W;ENSP00000449974:R110W;ENSP00000448810:R124W	ENSP00000301042:R124W	R	-	1	2	ZNF641	47025473	0.930000	0.31532	1.000000	0.80357	0.999000	0.98932	1.077000	0.30741	1.472000	0.48140	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	1	0	1	80	353	0	79	1	9.917618e-01	4	31	0	79	2		0	0	0	0	0	2	1	1	79	344	0	79	2								-3.187223	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT8	26290	broad.mit.edu	37	12	4874633	4874633	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4874633G>T	ENST00000252318.2	+	10	2019	c.1682G>T	c.(1681-1683)gGc>gTc	p.G561V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8			35					ACAGACCCTGGCAAGGCGGAG	0.448000													Colon(108;631 1558 7270 20097 39846)											0							SO:0001583	missense			ENST00000252318.2	1	1	hg19	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467896|1.467896	0.26335|0.26335	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000542998;ENST00000535354|ENST00000252318	.|T	.|0.35973	.|1.28	4.19|4.19	3.28|3.28	0.37604|0.37604	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57213|0.57213	0.2038|0.2038	M|M	0.79258|0.79258	2.445|2.445	0.37228|0.37228	D|D	0.905561|0.905561	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.64377|0.64377	-0.6422|-0.6422	5|10	.|0.62326	.|D	.|0.03	.|.	9.7348|9.7348	0.40382|0.40382	0.0:0.2109:0.7891:0.0|0.0:0.2109:0.7891:0.0	.|.	.|561	.|Q9NY28	.|GALT8_HUMAN	S|V	78;57|561	.|ENSP00000252318:G561V	.|ENSP00000252318:G561V	A|G	+|+	1|2	0|0	GALNT8|GALNT8	4744894|4744894	1.000000|1.000000	0.71417|0.71417	0.279000|0.279000	0.24732|0.24732	0.046000|0.046000	0.14306|0.14306	4.814000|4.814000	0.62627|0.62627	0.947000|0.947000	0.37659|0.37659	0.655000|0.655000	0.94253|0.94253	GCA|GGC		TCGA-IB-7651-01A-11D-2154-08	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	1	0	1	51	212	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1	50	203	0	49	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT8	26290	broad.mit.edu	37	12	4881757	4881757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4881757C>T	ENST00000252318.2	+	11	2245	c.1908C>T	c.(1906-1908)agC>agT	p.S636S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8			35					AGACCAACAGCCAGTGATCCT	0.498000													Colon(108;631 1558 7270 20097 39846)											0							SO:0001819	synonymous_variant			ENST00000252318.2	1	1	hg19	CCDS8533.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	0	0	0	25	170	1	61		0	0	0	1	61	2		0	0	0	0	0	2	1	9.908762e-01	24	167	1	59	12								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.940000	1.000000	1.000000	0.996578	0.990000	1	9.900000e-01	1
ADCY6	112	broad.mit.edu	37	12	49165651	49165651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49165651G>A	ENST00000307885.4	-	18	3587	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C	ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6			29					TCATTGCGGCGCTCCCGGGCC	0.552000																								0							SO:0001583	missense			ENST00000307885.4	1	1	hg19	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697873	0.88830	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.80909	-1.39;-1.39;-1.43	5.74	5.74	0.90152	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.85682	D	0.000000	D	0.91637	0.7357	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.68943	0.943;0.961;0.886	D	0.92549	0.6048	10	0.87932	D	0	.	19.0821	0.93186	0.0:0.0:1.0:0.0	.	196;912;965	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	C	912;912;965	ENSP00000350536:R912C;ENSP00000446730:R912C;ENSP00000311405:R965C	ENSP00000311405:R965C	R	-	1	0	ADCY6	47451918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.584000	0.74057	2.884000	0.98904	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	1	0	0	38	408	0	73	1	9.774685e-01	7	60	0	73	2		0	0	0	0	0	2	1	1	35	402	0	73	2								-3.142702	1	1	121412	14	42	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.730000	1.000000	1.000000	0.951262	0.990000	1	8.600000e-01	1
ADCY6	112	broad.mit.edu	37	12	49170893	49170893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49170893G>A	ENST00000307885.4	-	5	2064	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V|ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6			29					TTACGAGATGGCCTCAATCAT	0.557000																								0							SO:0001583	missense			ENST00000307885.4	1	1	hg19	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878374	0.91740	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.81739	-1.53;-1.53;-1.53	4.43	4.43	0.53597	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.87541	0.6203	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.81914	0.909;0.995	D	0.88938	0.3378	10	0.87932	D	0	.	16.3463	0.83134	0.0:0.0:1.0:0.0	.	457;457	O43306-2;O43306	.;ADCY6_HUMAN	V	457	ENSP00000350536:A457V;ENSP00000446730:A457V;ENSP00000311405:A457V	ENSP00000311405:A457V	A	-	2	0	ADCY6	47457160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.451000	0.82905	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	1	0	1	217	772	0	224	1	9.967842e-01	7	26	0	224	2		0	0	0	0	0	2	1	1	213	760	0	221	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNA6	3742	broad.mit.edu	37	12	4919450	4919450	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4919450G>T	ENST00000280684.3	+	1	1109	c.243G>T	c.(241-243)agG>agT	p.R81S	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R81S			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6			49				Dalfampridine(DB06637)	ACCCCCTGAGGAACGAGTACT	0.657000										HNSCC(72;0.22)														0							SO:0001583	missense			ENST00000280684.3	1	1	hg19	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487902	0.64074	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.75938	-0.98;-0.98	4.57	-3.05	0.05396	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.276440	0.30704	N	0.009042	T	0.80065	0.4555	M	0.67953	2.075	0.47994	D	0.999565	D	0.76494	0.999	D	0.78314	0.991	T	0.77953	-0.2394	10	0.59425	D	0.04	.	9.907	0.41381	0.1623:0.5184:0.3193:0.0	.	81	P17658	KCNA6_HUMAN	S	81	ENSP00000408321:R81S;ENSP00000280684:R81S	ENSP00000280684:R81S	R	+	3	2	KCNA6	4789711	0.994000	0.37717	0.558000	0.28319	0.993000	0.82548	0.182000	0.16900	-0.390000	0.07774	0.462000	0.41574	AGG		TCGA-IB-7651-01A-11D-2154-08	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	1	0	1	88	426	0	87	0	2.990971e-02	0	2	0	87	2		0	0	0	0	0	2	1	1	87	417	0	87	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RND1	27289	broad.mit.edu	37	12	49255902	49255902	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49255902C>A	ENST00000309739.5	-	3	339		c.e3-1			NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1			10					TAGGGAGATCCTGGTGTAGGC	0.522000																								0							SO:0001630	splice_region_variant			ENST00000309739.5	1	1	hg19	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058756	0.93846	.	.	ENSG00000172602	ENST00000309739	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8627	0.88786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RND1	47542169	1.000000	0.71417	0.984000	0.44739	0.798000	0.45092	7.419000	0.80179	2.837000	0.97791	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	1	0	1	33	130	0	42	1	2.762359e-01	3	2	0	42	2		0	0	0	0	0	2	1	1	32	128	0	42	2								-2.978245	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC65	85478	broad.mit.edu	37	12	49298137	49298137	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49298137A>C	ENST00000320516.4	+	1	206	c.18A>C	c.(16-18)aaA>aaC	p.K6N	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.K6N	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65			15					AGAAAGAAAAAATGGCCAAGA	0.537000											OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000320516.4	1	1	hg19	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338442	0.41398	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.62941	0.79;-0.01;0.85	5.06	1.45	0.22620	.	0.052686	0.64402	D	0.000001	T	0.61974	0.2390	M	0.71581	2.175	0.38560	D	0.949689	P	0.40731	0.728	P	0.44359	0.447	T	0.63292	-0.6670	10	0.66056	D	0.02	-17.724	8.3444	0.32263	0.6786:0.0:0.3214:0.0	.	6	Q8IXS2	CCD65_HUMAN	N	6	ENSP00000266984:K6N;ENSP00000446569:K6N;ENSP00000312706:K6N	ENSP00000266984:K6N	K	+	3	2	CCDC65	47584404	1.000000	0.71417	0.997000	0.53966	0.136000	0.21042	0.566000	0.23593	0.156000	0.19299	-0.274000	0.10170	AAA		TCGA-IB-7651-01A-11D-2154-08	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	1	0	1	132	670	0	178	0	2.746790e-02	0	2	0	178	2		0	0	0	0	0	2	1	1	129	662	0	176	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC65	85478	broad.mit.edu	37	12	49312057	49312057	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312057G>T	ENST00000320516.4	+	5	797		c.e5-1		RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Splice_Site	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65			15					TCACTTGCTAGAATTTAGAAG	0.413000																								0							SO:0001630	splice_region_variant			ENST00000320516.4	1	1	hg19	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698104	0.68386	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC65	47598324	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.003000	0.76310	2.677000	0.91161	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	1	0	1	73	404	0	85	0	2.413883e-02	0	2	0	85	2		0	0	0	0	0	2	1	1	70	395	0	84	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC65	85478	broad.mit.edu	37	12	49312112	49312112	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312112C>T	ENST00000320516.4	+	5	852	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.L222L	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65			15					AGTAGAAGATCTGTGGAGAAA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000320516.4	1	1	hg19	CCDS8772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	1	0	0	106	428	0	122	0	3.999917e-02	0	2	0	122	2		0	0	0	0	0	2	1	1	102	417	0	122	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC65	85478	broad.mit.edu	37	12	49314776	49314776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49314776C>T	ENST00000320516.4	+	7	1278	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.L364L	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65			15					AGAAAAAGTGCTGCCTTTTTA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000320516.4	1	1	hg19	CCDS8772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	1	0	1	44	277	0	74	0	5.361859e-02	0	3	0	74	2		0	0	0	0	0	2	1	1	44	273	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
WNT1	7471	broad.mit.edu	37	12	49373312	49373312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49373312G>A	ENST00000293549.3	+	2	202	c.166G>A	c.(166-168)Gta>Ata	p.V56I		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1			11					TCTGCAACTGGTACTCGAGCC	0.582000																								0							SO:0001583	missense			ENST00000293549.3	1	1	hg19	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360417	0.24598	.	.	ENSG00000125084	ENST00000293549	T	0.75938	-0.98	4.84	4.84	0.62591	.	0.660669	0.12351	U	0.476582	T	0.56499	0.1989	N	0.08118	0	0.58432	D	0.999994	B	0.20780	0.048	B	0.19666	0.026	T	0.49615	-0.8921	10	0.10636	T	0.68	.	16.8853	0.86074	0.0:0.0:1.0:0.0	.	56	P04628	WNT1_HUMAN	I	56	ENSP00000293549:V56I	ENSP00000293549:V56I	V	+	1	0	WNT1	47659579	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.254000	0.78329	2.501000	0.84356	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1	1	0	1	92	436	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1	92	430	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDN	23109	broad.mit.edu	37	12	49392084	49392084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49392084G>A	ENST00000421952.2	-	2	596	c.575C>T	c.(574-576)cCc>cTc	p.P192L	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin			8					ACCTCCCCAGGGCCCCGCCCA	0.781000																								0							SO:0001583	missense			ENST00000421952.2	1	1	hg19	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063238	0.08388	.	.	ENSG00000181418	ENST00000421952	T	0.40476	1.03	3.56	2.66	0.31614	.	0.356051	0.20815	N	0.085168	T	0.34106	0.0886	L	0.27053	0.805	0.45161	D	0.998172	P	0.51351	0.944	P	0.47470	0.548	T	0.15954	-1.0419	10	0.72032	D	0.01	-5.7798	9.1059	0.36698	0.0:0.2233:0.7767:0.0	.	192	O94850	DEND_HUMAN	L	192	ENSP00000390590:P192L	ENSP00000390590:P192L	P	-	2	0	DDN	47678351	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.460000	0.35244	1.077000	0.40990	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1	1	0	0	28	83	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	1	28	81	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHH	50846	broad.mit.edu	37	12	49485151	49485151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49485151C>T	ENST00000266991.2	-	2	631	c.325G>A	c.(325-327)Gct>Act	p.A109T	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog			8					ATGGCCAAAGCGTTCACCCGC	0.587000																								0							SO:0001583	missense			ENST00000266991.2	1	1	hg19	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980759	0.34942	.	.	ENSG00000139549	ENST00000266991	D	0.99418	-5.87	5.12	5.12	0.69794	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.173927	0.50627	D	0.000109	D	0.96027	0.8706	N	0.00873	-1.125	0.46954	D	0.99926	D	0.67145	0.996	P	0.47705	0.555	D	0.95758	0.8798	10	0.08381	T	0.77	0.4377	17.7162	0.88337	0.0:1.0:0.0:0.0	.	109	O43323	DHH_HUMAN	T	109	ENSP00000266991:A109T	ENSP00000266991:A109T	A	-	1	0	DHH	47771418	0.993000	0.37304	0.998000	0.56505	0.593000	0.36681	1.178000	0.31981	2.564000	0.86499	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	1	0	1	38	162	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1	37	161	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHH	50846	broad.mit.edu	37	12	49488219	49488219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49488219C>T	ENST00000266991.2	-	1	383	c.77G>A	c.(76-78)gGc>gAc	p.G26D	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog			8					cggcccccggcccggcccgcA	0.682000																								0							SO:0001583	missense			ENST00000266991.2	0	1	hg19	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859706	0.91433	.	.	ENSG00000139549	ENST00000266991	D	0.99727	-6.55	5.15	5.15	0.70609	Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97099	0.9796	10	0.87932	D	0	.	17.4475	0.87583	0.0:1.0:0.0:0.0	.	26	O43323	DHH_HUMAN	D	26	ENSP00000266991:G26D	ENSP00000266991:G26D	G	-	2	0	DHH	47774486	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.547000	0.67249	2.422000	0.82143	0.456000	0.33151	GGC		TCGA-IB-7651-01A-11D-2154-08	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	0	0	0	21	110	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999980e-01	19	107	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999783	0.990000	1	9.900000e-01	1
TUBA1A	7846	broad.mit.edu	37	12	49579133	49579133	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49579133C>T	ENST00000295766.5	-	4	1495	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H|TUBA1A_ENST00000301071.7_Missense_Mutation_p.R339H	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a			2				Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	CTGGATGGTACGCTTGGTCTT	0.552000													Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)											0							SO:0001583	missense			ENST00000295766.5	1	1	hg19	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086823	0.36855	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84146	-1.81;-1.81;-1.81	5.1	5.1	0.69264	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86096	0.5851	M	0.74467	2.265	0.80722	D	1	B	0.09022	0.002	B	0.19666	0.026	D	0.84226	0.0464	10	0.87932	D	0	.	17.3657	0.87363	0.0:1.0:0.0:0.0	.	339	Q71U36	TBA1A_HUMAN	H	339;186;339;304	ENSP00000301071:R339H;ENSP00000439020:R339H;ENSP00000446637:R304H	ENSP00000439020:R339H	R	-	2	0	TUBA1A	47865400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.565000	0.67365	2.391000	0.81399	0.556000	0.70494	CGT		TCGA-IB-7651-01A-11D-2154-08	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	0	0	1	89	371	1	93	0	1	6	602	1	93	21		0	0	0	0	0	2	1	1	87	362	1	91	17								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPH	5630	broad.mit.edu	37	12	49691311	49691311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49691311G>T	ENST00000257860.4	+	6	2667	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin			12					GATGGCCCTGGACATCGAGAT	0.692000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000257860.4	1	1	hg19	CCDS8783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.270856|5.270856	0.95429|0.95429	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000257860|ENST00000532332	D|.	0.91740|.	-2.9|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Filament (1);|.	0.000000|.	0.35936|.	N|.	0.002898|.	D|D	0.91112|0.91112	0.7202|0.7202	H|H	0.98769|0.98769	4.325|4.325	0.80722|0.80722	D|D	1|1	P|.	0.41450|.	0.75|.	P|.	0.48738|.	0.588|.	D|D	0.94583|0.94583	0.7781|0.7781	10|5	0.87932|.	D|.	0|.	.|.	18.1164|18.1164	0.89556|0.89556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	390|.	P41219|.	PERI_HUMAN|.	Y|V	390|118	ENSP00000257860:D390Y|.	ENSP00000257860:D390Y|.	D|G	+|+	1|2	0|0	PRPH|PRPH	47977578|47977578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.797000|9.797000	0.99108|0.99108	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GAC|GGA		TCGA-IB-7651-01A-11D-2154-08	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	1	0	0	37	277	0	64	1	2.495790e-01	2	6	0	64	2		0	0	0	0	0	2	1	1	35	271	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.998796	0.990000	1	9.900000e-01	1
TROAP	10024	broad.mit.edu	37	12	49719388	49719388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49719388G>A	ENST00000257909.3	+	4	518	c.442G>A	c.(442-444)Gct>Act	p.A148T	TROAP_ENST00000551245.1_Missense_Mutation_p.A148T|TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein			32					GCCTAGTCTGGCTAAAAGAGT	0.597000																								0							SO:0001583	missense			ENST00000257909.3	1	1	hg19	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532898	0.85812	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547807	T;T;T	0.21932	1.98;1.98;1.98	5.37	4.48	0.54585	.	0.000000	0.53938	D	0.000047	T	0.36441	0.0967	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.969	T	0.10222	-1.0639	10	0.87932	D	0	-10.8552	10.2384	0.43297	0.0915:0.0:0.9085:0.0	.	148;148	F8W130;Q12815	.;TROAP_HUMAN	T	148	ENSP00000447509:A148T;ENSP00000257909:A148T;ENSP00000446646:A148T	ENSP00000257909:A148T	A	+	1	0	TROAP	48005655	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.930000	0.63462	1.253000	0.44018	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	1	0	1	48	326	0	84	1	3.313670e-01	2	7	0	84	2		0	0	0	0	0	2	1	1	46	321	0	82	2								-19.637250	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999913	0.990000	1	9.900000e-01	1
DNAJC22	79962	broad.mit.edu	37	12	49743036	49743036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49743036G>T	ENST00000549441.2	+	3	1585	c.381G>T	c.(379-381)caG>caT	p.Q127H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22			10					TTGGCAACCAGACCTCAGACT	0.532000																								0							SO:0001583	missense			ENST00000549441.2	1	1	hg19	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468563	0.63625	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.45668	0.89;0.89	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.64997	1.995	0.49299	D	0.999776	D	0.89917	1.0	D	0.85130	0.997	T	0.60271	-0.7296	10	0.87932	D	0	-12.8666	7.8686	0.29552	0.1798:0.0:0.8202:0.0	.	127	Q8N4W6	DJC22_HUMAN	H	127	ENSP00000446830:Q127H;ENSP00000378508:Q127H	ENSP00000378508:Q127H	Q	+	3	2	DNAJC22	48029303	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.927000	0.63440	2.399000	0.81585	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	1	0	1	173	756	0	158	1	9.985258e-01	12	32	0	158	2		0	0	0	0	0	2	1	1	173	748	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPATS2	65244	broad.mit.edu	37	12	49883338	49883338	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49883338G>T	ENST00000553127.1	+	6	709	c.196G>T	c.(196-198)Gta>Tta	p.V66L	SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L|SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2			21					GGACAAAACAGTACAAGCATT	0.323000																								0							SO:0001583	missense			ENST00000553127.1	1	1	hg19	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094313	0.76870	.	.	ENSG00000123352	ENST00000550997;ENST00000549538;ENST00000548710;ENST00000553127;ENST00000321898;ENST00000551540;ENST00000552918;ENST00000395063	.	.	.	5.33	5.33	0.75918	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.53249	1.67	0.80722	D	1	P	0.34800	0.469	B	0.28385	0.089	T	0.58891	-0.7556	9	0.72032	D	0.01	-4.6616	16.5539	0.84479	0.0:0.0:1.0:0.0	.	66	Q86XZ4	SPAS2_HUMAN	L	66	.	ENSP00000326841:V66L	V	+	1	0	SPATS2	48169605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.932000	0.92897	2.770000	0.95276	0.557000	0.71058	GTA		TCGA-IB-7651-01A-11D-2154-08	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	1	0	1	38	216	0	52	1	1	45	122	0	52	2		0	0	0	0	0	2	1	1	38	213	0	52	2								-3.328595	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
SPATS2	65244	broad.mit.edu	37	12	49893906	49893906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49893906G>A	ENST00000553127.1	+	10	1270	c.757G>A	c.(757-759)Gca>Aca	p.A253T	SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T|SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2			21					AGTGTCTCTTGCACGGTATCG	0.353000																								0							SO:0001583	missense			ENST00000553127.1	1	1	hg19	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018060	0.35606	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	6.08	6.08	0.98989	.	0.091847	0.85682	D	0.000000	T	0.62514	0.2434	L	0.33792	1.035	0.80722	D	1	D	0.57899	0.981	D	0.65874	0.939	T	0.52253	-0.8600	9	0.05721	T	0.95	-16.3228	18.1659	0.89727	0.0:0.0:1.0:0.0	.	253	Q86XZ4	SPAS2_HUMAN	T	253	.	ENSP00000326841:A253T	A	+	1	0	SPATS2	48180173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.422000	0.59854	2.894000	0.99253	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	1	0	0	54	241	0	80	1	1	43	100	0	80	2		0	0	0	0	0	2	1	1	53	238	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH3	23416	broad.mit.edu	37	12	49933258	49933258	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49933258C>T	ENST00000257981.6	+	1	319	c.59C>T	c.(58-60)aCg>aTg	p.T20M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3			36					ACCATCGCTACGCGCTTCGAC	0.746000																								0							SO:0001583	missense			ENST00000257981.6	1	1	hg19	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969310	0.74246	.	.	ENSG00000135519	ENST00000257981	D	0.98762	-5.12	3.49	3.49	0.39957	PAS (1);	0.000000	0.33959	N	0.004391	D	0.98760	0.9583	M	0.83953	2.67	0.44852	D	0.997869	D	0.76494	0.999	P	0.59643	0.861	D	0.98832	1.0751	10	0.66056	D	0.02	.	12.8748	0.57984	0.0:1.0:0.0:0.0	.	20	Q9ULD8	KCNH3_HUMAN	M	20	ENSP00000257981:T20M	ENSP00000257981:T20M	T	+	2	0	KCNH3	48219525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	1.954000	0.56735	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	1	0	0	32	126	0	37	1	4.355590e-02	2	0	0	37	2		0	0	0	0	0	2	1	1	32	120	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH3	23416	broad.mit.edu	37	12	49942692	49942692	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942692C>A	ENST00000257981.6	+	8	1464	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3			36					GCTGCAGGAGCTGGCCCGCCG	0.692000																								0							SO:0001583	missense			ENST00000257981.6	0	1	hg19	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585537	0.66105	.	.	ENSG00000135519	ENST00000257981	D	0.99121	-5.45	4.52	1.7	0.24286	Ion transport (1);	0.000000	0.36268	N	0.002700	D	0.98858	0.9614	M	0.75264	2.295	0.33444	D	0.582831	D	0.89917	1.0	D	0.87578	0.998	D	0.98991	1.0808	10	0.87932	D	0	.	8.0473	0.30557	0.0:0.7158:0.0:0.2842	.	402	Q9ULD8	KCNH3_HUMAN	M	402	ENSP00000257981:L402M	ENSP00000257981:L402M	L	+	1	2	KCNH3	48228959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.467000	0.45093	0.657000	0.30906	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	0	0	0	13	42	0	9	0	6.352087e-02	1	1	0	9	2		0	0	0	0	0	2	1	9.997532e-01	13	42	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999832	0.990000	1	9.900000e-01	1
KCNH3	23416	broad.mit.edu	37	12	49942829	49942829	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942829G>A	ENST00000257981.6	+	8	1601	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3			36					GCGGCCCGTCGCTGCGCAGCG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000257981.6	1	1	hg19	CCDS8786.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	0	0	0	7	202	0	34	0	2.129075e-02	0	6	0	34	2		0	0	0	0	0	2	1	9.804749e-01	6	201	0	34	2								-9.080451	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.430000	0.180000	1.000000	0.390000	0.475009	0.430000	0	2.900000e-01	6.400000e-01
KCNH3	23416	broad.mit.edu	37	12	49943286	49943286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49943286C>T	ENST00000257981.6	+	9	1791	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3			36					GTACGCCCGCCGCTTTCTGTA	0.652000																								0							SO:0001583	missense			ENST00000257981.6	1	1	hg19	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897636	0.91962	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.49305	D	0.000155	D	0.98302	0.9437	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.98771	1.0728	10	0.66056	D	0.02	.	15.9387	0.79736	0.0:1.0:0.0:0.0	.	511	Q9ULD8	KCNH3_HUMAN	C	511	ENSP00000257981:R511C	ENSP00000257981:R511C	R	+	1	0	KCNH3	48229553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.879000	0.56138	2.719000	0.93026	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	1	0	1	128	468	0	116	0	2.058641e-01	0	4	0	116	2		0	0	0	0	0	2	1	1	128	304	0	59	2								-3.831419	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH3	23416	broad.mit.edu	37	12	49948160	49948160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49948160G>T	ENST00000257981.6	+	11	2219	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3			36					CCCGGCGGGAGCAGGTGGTAA	0.637000																								0							SO:0001583	missense			ENST00000257981.6	1	1	hg19	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	7.062	0.566553	0.13560	.	.	ENSG00000135519	ENST00000257981	D	0.96427	-4.01	4.81	1.93	0.25924	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.47455	D	0.000228	D	0.82536	0.5058	N	0.01751	-0.74	0.33808	D	0.627452	B	0.02656	0.0	B	0.04013	0.001	T	0.76503	-0.2935	10	0.02654	T	1	.	3.61	0.08057	0.2804:0.0:0.5456:0.174	.	653	Q9ULD8	KCNH3_HUMAN	D	653	ENSP00000257981:E653D	ENSP00000257981:E653D	E	+	3	2	KCNH3	48234427	0.895000	0.30542	0.999000	0.59377	0.992000	0.81027	-0.060000	0.11712	0.697000	0.31718	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	1	0	1	160	683	0	162	0	1.668130e-01	1	3	0	162	2		0	0	0	0	0	2	1	1	158	678	0	159	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM186B	84070	broad.mit.edu	37	12	49993797	49993797	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49993797C>A	ENST00000257894.2	-	4	1787	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000544141.1_Missense_Mutation_p.E452D|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B			21					TCCGTGGGCTCTCCTGCTCCT	0.587000																								0							SO:0001583	missense			ENST00000257894.2	1	1	hg19	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706919	0.30232	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.12361	2.69;2.69;2.89	5.1	2.24	0.28232	.	1.912250	0.02624	N	0.103495	T	0.10852	0.0265	N	0.22421	0.69	0.09310	N	1	B;B	0.32160	0.358;0.187	B;B	0.32762	0.152;0.106	T	0.29181	-1.0020	9	.	.	.	-0.2479	5.739	0.18083	0.0:0.6614:0.1595:0.1791	.	452;542	B4DZ15;Q8IYM0	.;F186B_HUMAN	D	452;155;542	ENSP00000438569:E452D;ENSP00000436995:E155D;ENSP00000257894:E542D	.	E	-	3	2	FAM186B	48280064	0.001000	0.12720	0.000000	0.03702	0.441000	0.31987	0.996000	0.29719	0.252000	0.21531	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	1	0	1	80	333	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	1	76	322	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMNL3	91010	broad.mit.edu	37	12	50042916	50042916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50042916C>T	ENST00000293590.5	-	21	2644	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000335154.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q			Q8IVF7	FMNL3_HUMAN	formin-like 3			39					TGTCATCTTCCGGTCAGTGGA	0.552000																								0							SO:0001583	missense			ENST00000293590.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.679679	0.96774	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.54863	1.705	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.991;0.986;0.995	T	0.68085	-0.5502	10	0.21014	T	0.42	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	753;804;804	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	Q	804;804;753;804	ENSP00000335655:R804Q;ENSP00000447479:R804Q;ENSP00000344311:R753Q;ENSP00000293590:R804Q	ENSP00000293590:R804Q	R	-	2	0	FMNL3	48329183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.990000	0.70595	2.723000	0.93209	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	35	876	0	151	0	8.051790e-01	0	78	0	151	2		0	0	0	0	0	2	1	1	34	862	0	149	2								-2.346851	0	1	121128	1	36	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.460000	0.320000	1.000000	0.460000	0.499082	0.460000	0	3.800000e-01	5.600000e-01
FMNL3	91010	broad.mit.edu	37	12	50055822	50055822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50055822C>T	ENST00000293590.5	-	5	612	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000335154.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K			Q8IVF7	FMNL3_HUMAN	formin-like 3			39					TTCAGAAATTCCCGCACCCAC	0.527000																								0							SO:0001583	missense			ENST00000293590.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.9	4.349590	0.82132	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.41	4.41	0.53225	.	0.057003	0.64402	D	0.000002	D	0.93239	0.7846	M	0.68593	2.085	0.80722	D	1	D;B	0.67145	0.996;0.055	D;B	0.73708	0.981;0.034	D	0.93275	0.6655	10	0.51188	T	0.08	.	16.2917	0.82756	0.0:1.0:0.0:0.0	.	127;127	Q8IVF7-2;Q8IVF7-3	.;.	K	127	ENSP00000335655:E127K;ENSP00000447479:E127K;ENSP00000344311:E127K;ENSP00000293590:E127K	ENSP00000293590:E127K	E	-	1	0	FMNL3	48342089	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.587000	0.82613	2.460000	0.83146	0.462000	0.41574	GAA		TCGA-IB-7651-01A-11D-2154-08	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	66	249	0	64	0	9.999634e-01	0	59	0	64	2		0	0	0	0	0	2	1	1	66	247	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCKAP5L	57701	broad.mit.edu	37	12	50188802	50188802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50188802G>A	ENST00000335999.6	-	8	3042	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like			18					GGAGCGGGGAGCCCCCGCCAG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000335999.6	1	1	hg19	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	4.167	0.029544	0.08054	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.63355	0.2504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61088	-0.7133	4	.	.	.	-18.2225	11.476	0.50297	0.0845:0.0:0.9155:0.0	.	.	.	.	F	662	.	.	L	-	1	0	NCKAP5L	48475069	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.512000	0.45485	2.619000	0.88677	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	0	0	1	15	61	0	13	1	9.974128e-01	2	43	0	13	2		0	0	0	0	0	2	1	9.999128e-01	14	60	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999779	0.990000	1	9.900000e-01	1
NCKAP5L	57701	broad.mit.edu	37	12	50195630	50195630	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50195630C>T	ENST00000335999.6	-	6	553		c.e6+1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like			18					CAGATGCCTACCTGAGGGAGC	0.592000																								0							SO:0001630	splice_region_variant			ENST00000335999.6	1	1	hg19	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180587	0.38511	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8951	0.86098	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5L	48481897	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	6.930000	0.75858	2.359000	0.80004	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	1	0	1	52	261	0	48	1	7.627966e-02	2	1	0	48	2		0	0	0	0	0	2	1	1	50	258	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNA1	3736	broad.mit.edu	37	12	5021052	5021052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021052G>A	ENST00000382545.3	+	2	1615	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	p.A170T(1)		63				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGGGTCATCGCCATCGTCTC	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000382545.3	1	1	hg19	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760027	0.89932	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.70869	-0.52	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.86864	2.845	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.86857	0.2027	10	0.87932	D	0	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	170	Q09470	KCNA1_HUMAN	T	170	ENSP00000371985:A170T	ENSP00000228858:A170T	A	+	1	0	KCNA1	4891313	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.531000	0.98054	2.606000	0.88127	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	1	0	1	70	522	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	67	495	0	100	2								-19.999990	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999721	0.990000	1	9.900000e-01	1
KCNA1	3736	broad.mit.edu	37	12	5021067	5021067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021067A>G	ENST00000382545.3	+	2	1630	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)			63				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CGTCTCCGTCATGGTCATCCT	0.627000																								0							SO:0001583	missense			ENST00000382545.3	1	1	hg19	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	9.495	1.101671	0.20632	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.67865	-0.29	4.71	3.54	0.40534	.	0.040366	0.85682	D	0.000000	T	0.54870	0.1885	L	0.37850	1.14	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.51980	-0.8636	10	0.49607	T	0.09	.	11.076	0.48032	0.8442:0.1558:0.0:0.0	.	175	Q09470	KCNA1_HUMAN	V	175	ENSP00000371985:M175V	ENSP00000228858:M175V	M	+	1	0	KCNA1	4891328	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	5.838000	0.69388	0.917000	0.36895	-0.313000	0.08912	ATG		TCGA-IB-7651-01A-11D-2154-08	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	1	0	1	67	493	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	66	472	0	93	2								-20.000000	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999742	0.990000	1	9.900000e-01	1
BCDIN3D	144233	broad.mit.edu	37	12	50232651	50232651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50232651C>T	ENST00000333924.4	-	2	423	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing			9					AAAGTCAAGGCATCAGGAAAA	0.468000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000333924.4	1	1	hg19	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287015	0.23478	.	.	ENSG00000186666	ENST00000333924	T	0.46063	0.88	5.57	5.57	0.84162	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.404823	0.30704	N	0.009056	T	0.36991	0.0987	L	0.58101	1.795	0.80722	D	1	B	0.32245	0.361	B	0.26969	0.075	T	0.12319	-1.0552	10	0.30078	T	0.28	.	12.3707	0.55254	0.1683:0.8316:0.0:0.0	.	128	Q7Z5W3	BN3D2_HUMAN	T	128	ENSP00000335201:A128T	ENSP00000335201:A128T	A	-	1	0	BCDIN3D	48518918	0.996000	0.38824	1.000000	0.80357	0.872000	0.50106	2.785000	0.47782	2.785000	0.95823	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	1	0	1	61	392	0	107	1	9.920577e-01	13	37	0	107	2		0	0	0	0	0	2	1	1	60	387	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
RACGAP1	29127	broad.mit.edu	37	12	50386039	50386039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50386039G>A	ENST00000548961.1	-	1	102	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C					Rac GTPase activating protein 1			14					TTGGGTTGACGCTTGATGTCC	0.468000																								0							SO:0001583	missense			ENST00000548961.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.67	2.903173	0.52333	.	.	ENSG00000161800	ENST00000548961;ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	6.06	5.17	0.71159	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.048722	0.85682	D	0.000000	T	0.25269	0.0614	M	0.74647	2.275	0.80722	D	1	P	0.36171	0.541	B	0.22386	0.039	T	0.06499	-1.0823	10	0.42905	T	0.14	-1.5039	11.026	0.47744	0.0664:0.0:0.8044:0.1292	.	523	Q9H0H5	RGAP1_HUMAN	C	33;523;523;523;523;523;523;259	ENSP00000446889:R33C;ENSP00000404190:R523C;ENSP00000309871:R523C;ENSP00000413241:R523C;ENSP00000404808:R523C;ENSP00000449374:R523C;ENSP00000449370:R523C;ENSP00000449565:R259C	ENSP00000309871:R523C	R	-	1	0	RACGAP1	48672306	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.669000	0.68081	1.572000	0.49736	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	RACGAP1-017	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000406031.2	1	0	1	126	571	0	182	1	9.998677e-01	22	38	0	182	2		0	0	0	0	0	2	1	1	125	559	0	179	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RACGAP1	29127	broad.mit.edu	37	12	50399109	50399109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50399109C>T	ENST00000427314.2	-	6	578	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000434422.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1			14					TTTTGCTCCTCGCTTAGTTGA	0.448000																								0							SO:0001583	missense			ENST00000427314.2	1	1	hg19	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084094	0.94100	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000552157;ENST00000548247;ENST00000546764;ENST00000551876;ENST00000549777	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.52;-0.52;-0.52;-0.52	6.17	6.17	0.99709	.	0.203855	0.53938	D	0.000054	D	0.85071	0.5613	M	0.66939	2.045	0.80722	D	1	D	0.63046	0.992	P	0.49226	0.603	D	0.85688	0.1305	10	0.72032	D	0.01	-14.897	20.8794	0.99867	0.0:1.0:0.0:0.0	.	119	Q9H0H5	RGAP1_HUMAN	K	119;119;119;119;119;119;119;45;45;61;61;119;131;119;119;61;45;119;119;119	ENSP00000404190:E119K;ENSP00000309871:E119K;ENSP00000413241:E119K;ENSP00000404808:E119K;ENSP00000449374:E119K;ENSP00000449370:E119K;ENSP00000448697:E119K;ENSP00000446642:E45K;ENSP00000447429:E45K;ENSP00000449963:E61K;ENSP00000450064:E61K;ENSP00000449170:E119K;ENSP00000449620:E131K;ENSP00000449669:E119K;ENSP00000447393:E119K;ENSP00000448968:E61K;ENSP00000447177:E119K;ENSP00000449186:E119K;ENSP00000448707:E119K	ENSP00000309871:E119K	E	-	1	0	RACGAP1	48685376	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	1	0	1	63	301	0	57	1	9.999633e-01	26	48	0	57	2		0	0	0	0	0	2	1	1	60	293	0	57	2								-2.690497	1	1	121412	2	32	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCD1	6602	broad.mit.edu	37	12	50483666	50483666	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50483666G>T	ENST00000394963.4	+	7	1169		c.e7-1		SMARCD1_ENST00000548573.1_Splice_Site|SMARCD1_ENST00000381513.4_Splice_Site	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1			18					CCTCTCTGTAGTGGCACAGGA	0.537000																								0							SO:0001630	splice_region_variant			ENST00000394963.4	1	1	hg19	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530681	0.85706	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCD1	48769933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	1	0	1	61	216	0	57	0	5.000000e-02	1	1	0	57	2		0	0	0	0	0	2	1	1	60	211	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPD1	2819	broad.mit.edu	37	12	50499448	50499448	+	Missense_Mutation	SNP	G	G	A	rs1128867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50499448G>A	ENST00000301149.3	+	3	569	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.A90T	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)			8					GAAGGCAAACGCCACTGGCAT	0.562000													NSCLC(141;1402 1905 9497 13391 44868)											0							SO:0001583	missense			ENST00000301149.3	1	1	hg19	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288161	0.40494	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.57907	0.37;0.37	5.39	-7.07	0.01563	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.470065	0.25291	N	0.031732	T	0.45975	0.1369	L	0.51422	1.61	0.33928	D	0.64173	D;B;B	0.56035	0.974;0.066;0.031	P;B;B	0.46510	0.519;0.047;0.04	T	0.62656	-0.6808	10	0.51188	T	0.08	-24.2271	15.4312	0.75102	0.5483:0.0:0.4517:0.0	.	113;90;113	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	T	113;113;90	ENSP00000301149:A113T;ENSP00000446768:A90T	ENSP00000301149:A113T	A	+	1	0	GPD1	48785715	0.009000	0.17119	0.064000	0.19789	0.718000	0.41266	0.206000	0.17375	-1.889000	0.01112	-1.267000	0.01435	GCC		TCGA-IB-7651-01A-11D-2154-08	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1	1	0	1	36	207	0	43	1	7.106690e-01	4	12	0	43	2		0	0	0	0	0	2	1	1	35	205	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
LIMA1	51474	broad.mit.edu	37	12	50575758	50575758	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575758C>T	ENST00000341247.4	-	10	1352	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000552491.1_Silent_p.E98E|LIMA1_ENST00000547825.1_Silent_p.E99E|LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000552823.1_Silent_p.E241E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1			44					CCAAGAGACGCTCCATTGGAT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000341247.4	1	1	hg19	CCDS8802.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	1	0	1	28	332	0	65	1	1	65	428	0	65	2		0	0	0	0	0	2	1	1	27	329	0	65	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.930000	0.630000	1.000000	1.000000	0.902702	0.930000	1	7.700000e-01	1
LIMA1	51474	broad.mit.edu	37	12	50575804	50575804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575804G>A	ENST00000341247.4	-	10	1306	c.1157C>T	c.(1156-1158)gCa>gTa	p.A386V	LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V|LIMA1_ENST00000547825.1_Missense_Mutation_p.A84V|LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1			44					GGTCTCTCTTGCAGGTGCCTG	0.468000																								0							SO:0001583	missense			ENST00000341247.4	1	1	hg19	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	7.352	0.623152	0.14193	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84298	-1.08;-1.09;-1.41;-1.83;-1.11;-1.41;-1.4	5.49	2.53	0.30540	Zinc finger, LIM-type (1);	0.325550	0.35320	N	0.003281	T	0.81192	0.4771	M	0.69823	2.125	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.64947	-0.6287	10	0.18710	T	0.47	.	10.2094	0.43132	0.2881:0.0:0.7119:0.0	.	396;386;225	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	V	83;84;226;387;386;227;225;305	ENSP00000448463:A83V;ENSP00000448706:A84V;ENSP00000450266:A226V;ENSP00000378400:A387V;ENSP00000340184:A386V;ENSP00000448779:A227V;ENSP00000450087:A225V	ENSP00000340184:A386V	A	-	2	0	LIMA1	48862071	0.219000	0.23619	0.606000	0.28943	0.973000	0.67179	1.043000	0.30316	0.741000	0.32674	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	1	0	1	20	332	0	77	1	9.999999e-01	77	428	0	77	2		0	0	0	0	0	2	1	9.999956e-01	20	331	0	76	2								-19.997070	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.690000	0.430000	1.000000	1.000000	0.711206	0.690000	0	5.400000e-01	8.800000e-01
LIMA1	51474	broad.mit.edu	37	12	50616055	50616055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50616055T>C	ENST00000341247.4	-	4	528	c.379A>G	c.(379-381)Aga>Gga	p.R127G	LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1			44					AGTCTAGATCTGGGGTGGATT	0.507000																								0							SO:0001583	missense			ENST00000341247.4	1	1	hg19	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	3.781	-0.045713	0.07452	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000420992;ENST00000551691	D;T	0.84800	-1.9;-1.16	5.12	-0.174	0.13319	.	0.889113	0.09948	N	0.735058	T	0.78438	0.4283	M	0.62723	1.935	0.21256	N	0.999748	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.002	T	0.61783	-0.6992	10	0.33940	T	0.23	.	2.283	0.04119	0.1209:0.1435:0.366:0.3696	.	136;127	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	G	127;127;46;127	ENSP00000378400:R127G;ENSP00000340184:R127G	ENSP00000340184:R127G	R	-	1	2	LIMA1	48902322	0.055000	0.20627	0.001000	0.08648	0.196000	0.23810	0.210000	0.17455	-0.162000	0.10964	0.533000	0.62120	AGA		TCGA-IB-7651-01A-11D-2154-08	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	1	0	1	93	384	0	73	1	1	157	315	0	73	2		0	0	0	0	0	2	1	1	93	376	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARP4	113251	broad.mit.edu	37	12	50848199	50848199	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50848199C>T	ENST00000398473.2	+	10	1232	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	LARP4_ENST00000429001.3_Splice_Site_p.R380C|LARP4_ENST00000347328.5_Splice_Site_p.R303C|LARP4_ENST00000293618.8_Splice_Site_p.R374W|LARP4_ENST00000518561.1_Splice_Site_p.R304C|LARP4_ENST00000522085.1_Splice_Site_p.R374C|LARP4_ENST00000518444.1_Splice_Site_p.R373C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4			23					CCAAAAAAATCGGTAAGATAA	0.348000																								0							SO:0001630	splice_region_variant			ENST00000398473.2	1	0	hg19	CCDS41782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908793|2.908793	0.52439|0.52439	.|.	.|.	ENSG00000161813|ENSG00000161813	ENST00000429001;ENST00000398473;ENST00000522085;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328|ENST00000293618	T;T;T;T;T;T|T	0.36157|0.34667	1.27;1.27;1.27;1.27;1.27;1.33|1.35	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51500|0.51500	0.1678|0.1678	L|L	0.40543|0.40543	1.245|1.245	0.40960|0.40960	D|D	0.984616|0.984616	B;B;D;B;B|D	0.89917|0.89917	0.354;0.027;1.0;0.146;0.202|1.0	B;B;D;B;B|D	0.80764|0.80764	0.139;0.021;0.994;0.064;0.038|0.994	T|T	0.58115|0.58115	-0.7693|-0.7693	10|10	0.39692|0.66056	T|D	0.17|0.02	.|.	16.9745|16.9745	0.86309|0.86309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275;373;303;374;380|374	Q71RC2-2;Q71RC2-3;G5E976;Q71RC2;Q71RC2-4|G3XAA8	.;.;.;LARP4_HUMAN;.|.	C|W	380;374;374;373;304;275;303|374	ENSP00000415464:R380C;ENSP00000381490:R374C;ENSP00000429781:R374C;ENSP00000429077:R373C;ENSP00000430851:R304C;ENSP00000340901:R303C|ENSP00000293618:R374W	ENSP00000340901:R303C|ENSP00000293618:R374W	R|R	+|+	1|1	0|2	LARP4|LARP4	49134466|49134466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.805000|0.805000	0.45488|0.45488	5.474000|5.474000	0.66781|0.66781	2.174000|2.174000	0.68829|0.68829	0.485000|0.485000	0.47835|0.47835	CGT|CGG		TCGA-IB-7651-01A-11D-2154-08	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	1	0	1	23	185	0	49	1	9.990075e-01	10	81	0	49	2		0	0	0	0	0	2	1	9.999995e-01	23	183	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.870000	1.000000	1.000000	0.991812	0.990000	1	9.900000e-01	1
LARP4	113251	broad.mit.edu	37	12	50869634	50869634	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50869634G>T	ENST00000398473.2	+	16	2274	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I	LARP4_ENST00000429001.3_Missense_Mutation_p.R727I|LARP4_ENST00000347328.5_Missense_Mutation_p.R650I|LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000518444.1_Missense_Mutation_p.R720I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4			23					GTGCCACCCAGATCACCAAAG	0.443000																								0							SO:0001583	missense			ENST00000398473.2	0	1	hg19	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798127	0.50208	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.34072	1.38;1.39;1.41;1.4;1.38	5.44	5.44	0.79542	.	0.290023	0.38605	N	0.001639	T	0.56046	0.1959	L	0.52364	1.645	0.58432	D	0.999992	B;D;P;B;B;P;B	0.76494	0.36;0.999;0.866;0.42;0.42;0.495;0.379	B;D;B;B;B;B;B	0.69479	0.112;0.964;0.328;0.061;0.09;0.09;0.095	T	0.54125	-0.8340	10	0.56958	D	0.05	.	19.6351	0.95728	0.0:0.0:1.0:0.0	.	602;131;720;650;650;721;727	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	I	650;727;721;720;602;650	ENSP00000293618:R650I;ENSP00000415464:R727I;ENSP00000381490:R721I;ENSP00000429077:R720I;ENSP00000340901:R650I	ENSP00000293618:R650I	R	+	2	0	LARP4	49155901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.787000	0.55439	2.728000	0.93425	0.643000	0.83706	AGA		TCGA-IB-7651-01A-11D-2154-08	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	0	0	0	7	285	0	58	1	7.177797e-01	3	98	0	58	2		0	0	0	0	0	2	1	9.792147e-01	7	278	0	57	2								-7.882047	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.300000	0.130000	1.000000	0.280000	0.361073	0.300000	0	2.000000e-01	4.600000e-01
DIP2B	57609	broad.mit.edu	37	12	51068306	51068306	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51068306A>G	ENST00000301180.5	+	6	724	c.690A>G	c.(688-690)tcA>tcG	p.S230S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)			60					CTTCCTCCTCATCATCTTCCT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000301180.5	1	1	hg19	CCDS31799.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	1	0	1	47	271	0	62	1	9.794765e-01	9	29	0	62	2		0	0	0	0	0	2	1	1	43	267	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
DIP2B	57609	broad.mit.edu	37	12	51072569	51072569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51072569G>A	ENST00000301180.5	+	8	1058	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)			60					TCTTGAATCTGCCCTGCAGCG	0.552000																								0							SO:0001583	missense			ENST00000301180.5	1	1	hg19	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360615	0.82353	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.11277	2.79	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.64080	1.96	0.80722	D	1	B;D	0.89917	0.318;1.0	B;D	0.87578	0.176;0.998	T	0.00844	-1.1543	10	0.33141	T	0.24	-13.636	18.2696	0.90064	0.0:0.0:1.0:0.0	.	342;352	Q9P265;E9PHD6	DIP2B_HUMAN;.	T	352;342	ENSP00000301180:A342T	ENSP00000301180:A342T	A	+	1	0	DIP2B	49358836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.619000	0.88677	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	1	0	1	45	209	0	60	1	8.885872e-01	8	12	0	60	2		0	0	0	0	0	2	1	1	42	206	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATF1	466	broad.mit.edu	37	12	51203316	51203316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51203316C>A	ENST00000262053.3	+	4	294	c.272C>A	c.(271-273)gCt>gAt	p.A91D	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1		EWSR1/ATF1(347)|FUS/ATF1(4)	4				Pseudoephedrine(DB00852)	GTTTCTGCTGCTGTCACTTCT	0.388000			T	EWSR1, FUS	malignant melanoma of soft parts , angiomatoid fibrous histiocytoma 										Dom	yes		12	12q13	466	activating transcription factor 1		E, M	0							SO:0001583	missense			ENST00000262053.3	1	1	hg19	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	C	5.592	0.293949	0.10567	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	T;T;T	0.78003	-1.14;0.45;0.44	.	.	.	.	0.367899	0.30695	N	0.009070	T	0.67776	0.2929	L	0.50333	1.59	0.80722	D	1	B	0.27559	0.181	B	0.25759	0.063	T	0.60409	-0.7269	8	0.56958	D	0.05	-14.0405	.	.	.	.	91	P18846	ATF1_HUMAN	D	91	ENSP00000448592:A91D;ENSP00000262053:A91D;ENSP00000448921:A91D	ENSP00000262053:A91D	A	+	2	0	ATF1	49489583	0.996000	0.38824	0.993000	0.49108	0.975000	0.68041	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCT		TCGA-IB-7651-01A-11D-2154-08	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	1	0	1	64	307	0	67	1	1	59	128	0	67	2		0	0	0	0	0	2	1	1	63	293	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS12	283471	broad.mit.edu	37	12	51279109	51279109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51279109G>T	ENST00000398458.3	+	4	765	c.733G>T	c.(733-735)Gga>Tga	p.G245*	TMPRSS12_ENST00000551456.1_Nonsense_Mutation_p.G245*	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12			18					GAGTTATGGGGGAATAATTCC	0.343000																								0							SO:0001587	stop_gained			ENST00000398458.3	0	1	hg19	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695336	0.48202	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	.	.	.	5.22	3.4	0.38934	.	0.539313	0.16944	N	0.193191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.5652	8.296	0.31986	0.1833:0.0:0.8167:0.0	.	.	.	.	X	245	.	ENSP00000381476:G245X	G	+	1	0	TMPRSS12	49565376	0.336000	0.24757	0.001000	0.08648	0.129000	0.20672	2.251000	0.43187	0.706000	0.31912	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	1	0	0	48	689	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	47	676	0	143	2								-3.318791	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.780000	0.570000	1.000000	0.770000	0.793265	0.780000	0	6.700000e-01	9.200000e-01
SLC11A2	4891	broad.mit.edu	37	12	51390647	51390647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390647C>T	ENST00000262051.7	-	9	871	c.784G>A	c.(784-786)Gct>Act	p.A262T	SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000394904.3_Missense_Mutation_p.A291T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T|SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2			36					ATGATGACAGCTCCCACGATG	0.522000																								0							SO:0001583	missense			ENST00000262051.7	1	1	hg19	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	C	36	5.819946	0.96989	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	H	0.99425	4.56	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999;0.999	D	0.95025	0.8164	10	0.87932	D	0	-14.8869	18.8085	0.92048	0.0:1.0:0.0:0.0	.	225;258;291;262;111;262	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	T	262;262;262;291;291;262;258;183	ENSP00000262051:A262T;ENSP00000446769:A262T;ENSP00000262052:A262T;ENSP00000378364:A291T;ENSP00000449200:A291T;ENSP00000444542:A262T;ENSP00000442810:A258T;ENSP00000446914:A183T	ENSP00000262051:A262T	A	-	1	0	SLC11A2	49676914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.492000	0.81482	2.734000	0.93682	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1	1	0	1	52	249	0	63	1	1	36	103	0	63	2		0	0	0	0	0	2	1	1	49	247	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC11A2	4891	broad.mit.edu	37	12	51390675	51390675	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390675C>T	ENST00000262051.7	-	9	843	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000394904.3_Silent_p.Q281Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q|SLC11A2_ENST00000546743.1_Silent_p.Q173Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2			36					CCTGTTCAATCTGTGGAGTGC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000262051.7	1	1	hg19	CCDS53792.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1	1	0	1	58	251	0	53	1	1	41	107	0	53	2		0	0	0	0	0	2	1	1	56	247	0	52	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFCP2	7024	broad.mit.edu	37	12	51502943	51502943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51502943C>A	ENST00000257915.5	-	6	1136	c.678G>T	c.(676-678)gaG>gaT	p.E226D	TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D|TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000307660.4_Intron	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2			23					AGTGTAAGTGCTCAGTATATT	0.433000																								0							SO:0001583	missense			ENST00000257915.5	1	1	hg19	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047049	0.55110	.	.	ENSG00000135457	ENST00000257915;ENST00000549867;ENST00000548108	T;T;T	0.18174	2.23;2.23;2.23	5.45	2.6	0.31112	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.47016	1.485	0.80722	D	1	B;D;B	0.71674	0.022;0.998;0.016	B;D;B	0.78314	0.03;0.991;0.059	T	0.01839	-1.1263	10	0.23891	T	0.37	-22.8115	9.453	0.38739	0.0:0.6972:0.0:0.3028	.	226;226;226	F8VX55;Q12800;Q12800-4	.;TFCP2_HUMAN;.	D	226;226;128	ENSP00000257915:E226D;ENSP00000449742:E226D;ENSP00000449280:E128D	ENSP00000257915:E226D	E	-	3	2	TFCP2	49789210	0.530000	0.26330	1.000000	0.80357	0.980000	0.70556	-0.191000	0.09601	0.803000	0.34113	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	1	0	1	84	420	0	93	1	9.999815e-01	36	44	0	93	2		0	0	0	0	0	2	1	1	84	408	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNA5	3741	broad.mit.edu	37	12	5153586	5153586	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5153586G>A	ENST00000252321.3	+	1	502	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5			52				Dalfampridine(DB06637)	CTCGACGGCCGCCTCCCGAGG	0.731000																								0							SO:0001819	synonymous_variant			ENST00000252321.3	0	1	hg19	CCDS8536.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	1	0	0	11	89	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.985661e-01	11	89	0	13	2								-19.999180	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.650000	1.000000	1.000000	0.957920	0.990000	1	8.900000e-01	1
TFCP2	7024	broad.mit.edu	37	12	51566352	51566352	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51566352G>T	ENST00000257915.5	-	0	312				TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_De_novo_Start_InFrame|TFCP2_ENST00000307660.4_De_novo_Start_InFrame	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2			23					AGCCCGACCAGCACTGCTCTG	0.577000																								0											ENST00000257915.5	0	1	hg19	CCDS8808.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	0	0	0	16	45	0	11	1	9.998400e-01	17	32	0	11	2		0	0	0	0	0	2	1	9.999588e-01	16	42	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
POU6F1	5463	broad.mit.edu	37	12	51585522	51585522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51585522C>T	ENST00000389243.4	-	10	1356	c.417G>A	c.(415-417)gaG>gaA	p.E139E	POU6F1_ENST00000550824.1_Silent_p.E139E|POU6F1_ENST00000333640.10_Silent_p.E139E			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1			11					TGATCCCATCCTCATCCAGAC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000389243.4	1	1	hg19	CCDS31803.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	1	0	1	129	549	0	135	1	9.691391e-01	8	18	0	135	2		0	0	0	0	0	2	1	1	128	542	0	133	2								-3.215314	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POU6F1	5463	broad.mit.edu	37	12	51589917	51589917	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51589917C>T	ENST00000389243.4	-	8	1024	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M|POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1			11					GGGGCCGCCACACTAGCTGAG	0.617000																								0							SO:0001583	missense			ENST00000389243.4	1	1	hg19	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443141	0.43326	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824;ENST00000547855	D;D;D	0.85484	-1.99;-1.99;-1.99	5.5	2.01	0.26516	.	2.733070	0.01422	N	0.014403	T	0.76652	0.4017	N	0.22421	0.69	0.23356	N	0.997846	B	0.11235	0.004	B	0.11329	0.006	T	0.62515	-0.6838	10	0.38643	T	0.18	.	5.3209	0.15881	0.0:0.5829:0.1638:0.2533	.	29	Q14863	PO6F1_HUMAN	M	29	ENSP00000373895:V29M;ENSP00000330190:V29M;ENSP00000448389:V29M	ENSP00000330190:V29M	V	-	1	0	POU6F1	49876184	0.000000	0.05858	0.982000	0.44146	0.989000	0.77384	-0.065000	0.11617	1.333000	0.45449	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	1	0	1	14	87	0	17	1	8.561543e-01	4	19	0	17	2		0	0	0	0	0	2	1	9.998018e-01	14	85	0	17	2								-19.999670	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.950000	1.000000	1.000000	0.996178	0.990000	1	9.900000e-01	1
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	G	A	rs141068541	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1			15					CCACGTTATCGCTGTTCCAGT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000293636.1	1	1	hg19	CCDS8812.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	1	0	0	111	496	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1	111	486	0	129	2								-3.390784	1	1	121412	18	46	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT6	11226	broad.mit.edu	37	12	51752996	51752996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51752996G>A	ENST00000543196.2	-	7	1493	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6			27					TCTGCCAGGCGCACTTGATTG	0.542000																								0							SO:0001583	missense			ENST00000543196.2	1	1	hg19	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814279	0.90790	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.71103	-0.54;-0.54	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94155	0.7409	10	0.87932	D	0	.	16.6531	0.85222	0.0:0.0:1.0:0.0	.	430	Q8NCL4	GALT6_HUMAN	C	430;430;411	ENSP00000444171:R430C;ENSP00000348668:R430C	ENSP00000348668:R430C	R	-	1	0	GALNT6	50039263	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.638000	0.83328	2.661000	0.90470	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	1	0	1	155	1278	0	245	1	8.733472e-01	3	29	0	245	2		0	0	0	0	0	2	1	1	152	1255	0	244	2								-20.000000	1	1	121412	2	41	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
SCN8A	6334	broad.mit.edu	37	12	52080881	52080881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52080881G>A	ENST00000354534.6	+	5	670	c.492G>A	c.(490-492)acG>acA	p.T164T	SCN8A_ENST00000545061.1_Silent_p.T164T|SCN8A_ENST00000550891.1_Silent_p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit			55				Valproic Acid(DB00313)	ACAGGTACACGTTCACAGGGA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000354534.6	1	1	hg19	CCDS44891.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	1	0	0	23	217	0	51	0	1.020304e-02	0	2	0	51	2		0	0	0	0	0	2	1	9.999995e-01	23	215	0	51	2								-20.000000	1	1	120800	1	31	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.750000	1.000000	1.000000	0.972277	0.990000	1	9.300000e-01	1
SCN8A	6334	broad.mit.edu	37	12	52115445	52115445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52115445C>T	ENST00000354534.6	+	12	1929	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit			55				Valproic Acid(DB00313)	AATGAGTTCGCGGATGACGAG	0.672000																								0							SO:0001583	missense			ENST00000354534.6	1	1	hg19	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853357	0.91355	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	3.83	3.83	0.44106	Domain of unknown function DUF3451 (1);	0.125201	0.53938	D	0.000057	D	0.98966	0.9648	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.999;1.0	D;D;D;D	0.97110	0.915;0.944;0.972;1.0	D	0.99414	1.0931	10	0.72032	D	0.01	.	16.3045	0.82842	0.0:1.0:0.0:0.0	.	584;584;584;584	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	V	584;584;584;584;497;382	ENSP00000448415:A584V;ENSP00000346534:A584V;ENSP00000440360:A584V;ENSP00000347255:A584V;ENSP00000447567:A382V	ENSP00000346534:A584V	A	+	2	0	SCN8A	50401712	1.000000	0.71417	0.975000	0.42487	0.818000	0.46254	7.595000	0.82710	2.136000	0.66102	0.467000	0.42956	GCG		TCGA-IB-7651-01A-11D-2154-08	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	1	0	1	23	73	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999998e-01	23	73	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ACVRL1	94	broad.mit.edu	37	12	52309191	52309191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52309191G>A	ENST00000388922.4	+	7	1238	c.955G>A	c.(955-957)Ggt>Agt	p.G319S	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G145S|ACVRL1_ENST00000550683.1_Missense_Mutation_p.G333S	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1			20				Adenosine triphosphate(DB00171)	GGAGATCTTCGGTACACAGGG	0.617000																								0							SO:0001583	missense			ENST00000388922.4	1	1	hg19	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436485	0.83885	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93247	-3.19;-3.19;-3.19	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000327	D	0.96648	0.8906	M	0.84511	2.7	0.58432	D	0.999993	D;D	0.64830	0.984;0.994	D;D	0.63113	0.911;0.911	D	0.96101	0.9069	10	0.46703	T	0.11	.	18.6856	0.91562	0.0:0.0:1.0:0.0	.	145;319	E7EN07;P37023	.;ACVL1_HUMAN	S	319;319;333;145;145	ENSP00000373574:G319S;ENSP00000447884:G333S;ENSP00000392492:G145S	ENSP00000267008:G319S	G	+	1	0	ACVRL1	50595458	0.999000	0.42202	0.969000	0.41365	0.921000	0.55340	3.458000	0.53014	2.826000	0.97356	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2	1	0	1	53	208	0	48	0	1	1	140	0	48	2		0	0	0	0	0	2	1	1	52	206	0	48	2								-3.176813	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACVR1B	91	broad.mit.edu	37	12	52369215	52369215	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52369215C>A	ENST00000257963.4	+	2	335	c.258C>A	c.(256-258)agC>agA	p.S86R	ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R|ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB			44				Adenosine triphosphate(DB00171)	ACTGCCTGAGCTCGGAGGACC	0.577000																								0							SO:0001583	missense			ENST00000257963.4	1	1	hg19	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233134	0.58777	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	T;T;T;D;T;T	0.90732	0.39;0.39;0.39;-2.72;0.39;0.39	4.88	3.97	0.46021	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.68317	2.08	0.58432	D	0.999998	B;B;D;D	0.55800	0.033;0.022;0.973;0.957	B;B;P;P	0.61800	0.048;0.076;0.894;0.865	D	0.91643	0.5328	10	0.42905	T	0.14	.	10.0775	0.42368	0.0:0.7754:0.0:0.2246	.	86;86;86;86	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	R	86;86;86;34;86;34	ENSP00000257963:S86R;ENSP00000442656:S86R;ENSP00000390477:S86R;ENSP00000443218:S34R;ENSP00000397550:S86R;ENSP00000442885:S34R	ENSP00000257963:S86R	S	+	3	2	ACVR1B	50655482	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.817000	0.27281	1.341000	0.45600	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	1	0	1	48	219	0	61	1	9.998884e-01	9	56	0	61	2	1	1	258	1225	0	1499	2	1	1	46	217	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACVR1B	91	broad.mit.edu	37	12	52380666	52380666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52380666G>A	ENST00000257963.4	+	7	1278	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T|ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000563121.1_Intron	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB			44				Adenosine triphosphate(DB00171)	CTTTAAATGTGCTGATATTTA	0.413000																								0							SO:0001583	missense			ENST00000257963.4	1	1	hg19	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044077	0.93685	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.78314	0.982;0.982;0.991;0.914	D	0.94589	0.7786	10	0.38643	T	0.18	.	18.3723	0.90411	0.0:0.0:1.0:0.0	.	442;401;401;401	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	T	401;442;401;401;349	ENSP00000257963:A401T;ENSP00000442656:A442T;ENSP00000390477:A401T;ENSP00000397550:A401T;ENSP00000442885:A349T	ENSP00000257963:A401T	A	+	1	0	ACVR1B	50666933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.668000	0.90789	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	1	0	1	86	385	0	81	1	9.998358e-01	9	50	0	81	2	1	1	59	351	0	375	2	1	1	85	378	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRASP	160622	broad.mit.edu	37	12	52407526	52407526	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52407526G>T	ENST00000293662.4	+	5	590	c.510G>T	c.(508-510)gaG>gaT	p.E170D	GRASP_ENST00000380039.2_Missense_Mutation_p.E27D|GRASP_ENST00000552049.1_Missense_Mutation_p.E27D|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein			5					GGCATCGAGAGATTGTGGACA	0.552000																								0							SO:0001583	missense			ENST00000293662.4	1	1	hg19	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306148	0.40795	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T;T;T	0.48836	2.18;0.8;0.8;0.8	5.09	3.21	0.36854	PDZ/DHR/GLGF (4);	0.103985	0.64402	D	0.000004	T	0.46151	0.1378	N	0.13299	0.325	0.45648	D	0.998574	D;D	0.76494	0.997;0.999	P;D	0.70016	0.885;0.967	T	0.38845	-0.9642	10	0.36615	T	0.2	-1.568	9.7665	0.40563	0.17:0.0:0.83:0.0	.	27;170	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	D	170;27;40;27	ENSP00000293662:E170D;ENSP00000449492:E27D;ENSP00000448476:E40D;ENSP00000369378:E27D	ENSP00000293662:E170D	E	+	3	2	GRASP	50693793	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.218000	0.32467	1.365000	0.46057	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1	0	0	0	16	476	0	105	0	7.486775e-01	0	81	0	105	2		0	0	0	0	0	2	1	9.999257e-01	16	468	0	101	2								-14.572890	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.390000	0.230000	1.000000	0.390000	0.442092	0.390000	0	3.000000e-01	5.300000e-01
NR4A1	3164	broad.mit.edu	37	12	52449883	52449883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52449883C>T	ENST00000243050.1	+	4	1260	c.946C>T	c.(946-948)Cga>Tga	p.R316*	NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*|NR4A1_ENST00000545748.1_Nonsense_Mutation_p.R370*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Nonsense_Mutation_p.R329*	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1			16					CAAGAGGCGGCGAAACCGCTG	0.632000																								0							SO:0001587	stop_gained			ENST00000243050.1	0	1	hg19	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	38	7.216842	0.98143	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	.	.	.	4.27	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4197	0.49974	0.3237:0.6763:0.0:0.0	.	.	.	.	X	329;370;329;316;316;316	.	ENSP00000243050:R316X	R	+	1	2	NR4A1	50736150	0.472000	0.25870	1.000000	0.80357	0.994000	0.84299	-0.028000	0.12350	1.340000	0.45581	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2	0	0	0	22	526	0	108	1	9.955634e-01	2	203	0	108	2		0	0	0	0	0	2	1	9.999985e-01	21	517	0	107	2								-3.838870	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.480000	0.310000	1.000000	0.470000	0.523829	0.480000	0	3.900000e-01	6.200000e-01
NR4A1	3164	broad.mit.edu	37	12	52450304	52450304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450304C>T	ENST00000243050.1	+	5	1347	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W|NR4A1_ENST00000545748.1_Missense_Mutation_p.R399W|NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1			16					CCTGAAGGGGCGGCGGGGCCG	0.627000																								0							SO:0001583	missense			ENST00000243050.1	1	1	hg19	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845760	0.71603	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70288	-0.4913	10	0.87932	D	0	.	11.7537	0.51863	0.1767:0.8233:0.0:0.0	.	358;345	B4DML7;P22736	.;NR4A1_HUMAN	W	358;399;358;345;345;345	ENSP00000353427:R358W;ENSP00000440864:R399W;ENSP00000449539:R358W;ENSP00000243050:R345W;ENSP00000378302:R345W;ENSP00000378301:R345W	ENSP00000243050:R345W	R	+	1	2	NR4A1	50736571	0.363000	0.24989	0.990000	0.47175	0.982000	0.71751	0.963000	0.29293	2.667000	0.90743	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2	0	0	0	29	836	0	141	1	9.734236e-01	2	167	0	141	2		0	0	0	0	0	2	1	1	28	822	0	139	2								-3.316390	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.400000	0.270000	1.000000	0.390000	0.445741	0.400000	0	3.300000e-01	5.000000e-01
NR4A1	3164	broad.mit.edu	37	12	52450400	52450400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450400C>T	ENST00000243050.1	+	5	1443	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S|NR4A1_ENST00000545748.1_Missense_Mutation_p.P431S|NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1			16					GGACTCAGGGCCCAGCACTGC	0.627000																								0							SO:0001583	missense			ENST00000243050.1	1	1	hg19	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122481	0.94429	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	4.94	4.94	0.65067	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.64170	1.965	0.80722	D	1	D;P	0.89917	1.0;0.709	D;P	0.87578	0.998;0.609	T	0.69514	-0.5125	10	0.87932	D	0	.	17.4611	0.87620	0.0:1.0:0.0:0.0	.	390;377	B4DML7;P22736	.;NR4A1_HUMAN	S	390;431;390;377;377;377	ENSP00000353427:P390S;ENSP00000440864:P431S;ENSP00000449539:P390S;ENSP00000243050:P377S;ENSP00000378302:P377S;ENSP00000378301:P377S	ENSP00000243050:P377S	P	+	1	0	NR4A1	50736667	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.578000	0.67450	2.735000	0.93741	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2	1	0	1	71	410	0	118	1	9.999999e-01	22	111	0	118	2		0	0	0	0	0	2	1	1	71	396	0	116	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C12orf44	0	broad.mit.edu	37	12	52470606	52470606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52470606C>T	ENST00000336854.4	+	4	767	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN				4					TGGGCTGGGGCAGATGTCCTT	0.572000																								0							SO:0001587	stop_gained			ENST00000336854.4	0	1	hg19	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999222	0.93227	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000548915;ENST00000550984	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.0403	16.5961	0.84796	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000338990:Q97X	Q	+	1	0	C12orf44	50756873	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	7.252000	0.78309	2.507000	0.84556	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1	1	0	0	51	242	0	56	1	1	11	244	0	56	2		0	0	0	0	0	2	1	1	50	241	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT80	144501	broad.mit.edu	37	12	52567487	52567487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52567487C>T	ENST00000394815.2	-	5	825	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KRT80_ENST00000313234.5_Missense_Mutation_p.R243H	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80			5					GATGTGGCAGCGGCTGTCCAT	0.667000													GBM(178;2309 2916 15678 35873)											0							SO:0001583	missense			ENST00000394815.2	1	0	hg19	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137927	0.56936	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	T;T	0.75589	-0.95;-0.95	4.23	2.39	0.29439	Filament (1);	0.201326	0.25040	N	0.033609	T	0.60301	0.2258	N	0.12182	0.205	0.30603	N	0.760335	B;B;D	0.64830	0.008;0.009;0.994	B;B;P	0.51415	0.003;0.005;0.669	T	0.61763	-0.6996	10	0.87932	D	0	.	4.1464	0.10217	0.0:0.3747:0.3399:0.2853	.	243;243;278	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	H	243	ENSP00000369361:R243H;ENSP00000378292:R243H	ENSP00000369361:R243H	R	-	2	0	KRT80	50853754	0.878000	0.30173	0.998000	0.56505	0.526000	0.34562	0.185000	0.16958	0.560000	0.29169	-1.149000	0.01842	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	1	0	1	77	374	0	76	1	9.998394e-01	24	40	0	76	2		0	0	0	0	0	2	1	1	77	367	0	76	2								-2.170756	0	1	121368	10	39	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT7	3855	broad.mit.edu	37	12	52627084	52627084	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52627084T>C	ENST00000331817.5	+	1	187	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7			14				Primaquine(DB01087)	AGCCACCATGTCCATCCACTT	0.731000																								0							SO:0001583	missense			ENST00000331817.5	1	1	hg19	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247250	0.59103	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.83673	-1.75	4.37	4.37	0.52481	.	.	.	.	.	D	0.86414	0.5927	M	0.67700	2.07	0.34535	D	0.709599	D;D	0.57571	0.98;0.966	P;P	0.56700	0.804;0.641	D	0.90410	0.4409	9	0.87932	D	0	.	9.5221	0.39143	0.0:0.0:0.1774:0.8226	.	2;2	F8VZY5;P08729	.;K2C7_HUMAN	P	2	ENSP00000329243:S2P	ENSP00000329243:S2P	S	+	1	0	KRT7	50913351	0.997000	0.39634	0.991000	0.47740	0.050000	0.14768	1.075000	0.30716	1.977000	0.57605	0.375000	0.23000	TCC		TCGA-IB-7651-01A-11D-2154-08	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	0	0	0	22	104	0	16	1	9.993687e-01	23	37	0	16	2		0	0	0	0	0	2	1	9.999992e-01	21	102	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999935	0.990000	1	9.900000e-01	1
KRT81	3887	broad.mit.edu	37	12	52685244	52685244	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52685244G>T	ENST00000327741.5	-	1	74	c.6C>A	c.(4-6)acC>acA	p.T2T	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81			16					CTGATCCGCAGGTCATGATCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000327741.5	1	1	hg19	CCDS31805.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	1	0	1	24	96	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.999998e-01	22	94	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
KRT86	3892	broad.mit.edu	37	12	52702259	52702259	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52702259A>G	ENST00000423955.2	+	11	1529	c.1351A>G	c.(1351-1353)Acc>Gcc	p.T451A	KRT86_ENST00000293525.5_Missense_Mutation_p.T451A|KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86			10					TGTTGTCTCCACCAGAGTCAG	0.667000																								0							SO:0001583	missense			ENST00000423955.2	1	1	hg19	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	A	9.952	1.220419	0.22457	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.81247	-1.47;-1.47;-1.47	5.42	-0.186	0.13272	.	0.281067	0.25225	U	0.032219	T	0.64605	0.2613	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.22109	T	0.4	.	8.6059	0.33773	0.6135:0.0:0.3865:0.0	.	451	O43790	KRT86_HUMAN	A	451	ENSP00000443169:T451A;ENSP00000444533:T451A;ENSP00000293525:T451A	ENSP00000293525:T451A	T	+	1	0	AC021066.1;KRT86	50988526	0.000000	0.05858	0.308000	0.25141	0.577000	0.36160	-0.796000	0.04575	0.016000	0.14998	-0.379000	0.06801	ACC		TCGA-IB-7651-01A-11D-2154-08	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	1	0	0	39	174	0	25	1	7.882668e-01	2	13	0	25	2		0	0	0	0	0	2	1	1	38	174	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT83	3889	broad.mit.edu	37	12	52710773	52710773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52710773G>T	ENST00000293670.3	-	5	847	c.785C>A	c.(784-786)aCc>aAc	p.T262N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83			32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)				AACCACGGAGGTGTCTGAGAT	0.547000													GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											0							SO:0001583	missense			ENST00000293670.3	1	1	hg19	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886649	0.72410	.	.	ENSG00000170523	ENST00000293670	T	0.77229	-1.08	3.9	3.0	0.34707	Filament (1);	0.164011	0.28332	U	0.015740	D	0.89646	0.6775	H	0.95504	3.68	0.39581	D	0.969431	P	0.49559	0.925	P	0.61658	0.892	D	0.91465	0.5192	10	0.87932	D	0	.	11.594	0.50962	0.0897:0.0:0.9103:0.0	.	262	P78385	KRT83_HUMAN	N	262	ENSP00000293670:T262N	ENSP00000293670:T262N	T	-	2	0	KRT83	50997040	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	5.582000	0.67477	0.763000	0.33175	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	0	0	1	96	418	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	95	411	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT83	3889	broad.mit.edu	37	12	52715095	52715095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52715095C>T	ENST00000293670.3	-	1	87	c.25G>A	c.(25-27)Ggc>Agc	p.G9S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83			32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)				AACCCACAGCCTATGGAGTTG	0.627000													GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											0							SO:0001583	missense			ENST00000293670.3	1	1	hg19	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545433	0.00926	.	.	ENSG00000170523	ENST00000293670	D	0.88354	-2.37	3.26	1.37	0.22104	.	.	.	.	.	T	0.68229	0.2978	N	0.04297	-0.235	0.09310	N	1	B	0.11235	0.004	B	0.18263	0.021	T	0.57849	-0.7740	9	0.02654	T	1	.	2.928	0.05791	0.2924:0.4635:0.1483:0.0957	.	9	P78385	KRT83_HUMAN	S	9	ENSP00000293670:G9S	ENSP00000293670:G9S	G	-	1	0	KRT83	51001362	0.000000	0.05858	0.076000	0.20297	0.008000	0.06430	-0.283000	0.08433	0.221000	0.20879	-1.186000	0.01703	GGC		TCGA-IB-7651-01A-11D-2154-08	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	1	0	1	109	478	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	108	467	0	89	2								-3.417175	1	1	121404	1	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT85	3891	broad.mit.edu	37	12	52758891	52758891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52758891G>A	ENST00000257901.3	-	2	559	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	p.R162S(1)		36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)				TCGCAGCAGCGCTGGTTCTGG	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000257901.3	1	1	hg19	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591234	0.46214	.	.	ENSG00000135443	ENST00000257901	T	0.76186	-1.0	4.51	-1.86	0.07760	Filament (1);	2.754660	0.00855	N	0.001868	T	0.78780	0.4337	L	0.43152	1.355	0.09310	N	1	D	0.60160	0.987	P	0.58820	0.846	T	0.66705	-0.5856	10	0.87932	D	0	.	8.8268	0.35061	0.0:0.1999:0.195:0.6051	.	162	P78386	KRT85_HUMAN	C	162	ENSP00000257901:R162C	ENSP00000257901:R162C	R	-	1	0	KRT85	51045158	0.001000	0.12720	0.000000	0.03702	0.413000	0.31143	-0.345000	0.07770	-0.134000	0.11516	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	1	0	1	95	344	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	95	338	0	86	2								-20.000000	1	1	121412	3	39	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT82	3888	broad.mit.edu	37	12	52793859	52793859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52793859G>A	ENST00000257974.2	-	5	929	c.852C>T	c.(850-852)gaC>gaT	p.D284D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82			29					TGCCGTCCACGTCCAGCTCCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000257974.2	1	1	hg19	CCDS8826.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	0	0	0	15	459	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	9.998512e-01	13	450	0	81	2								-13.772440	1	1	121412	2	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.390000	0.220000	1.000000	0.370000	0.433181	0.390000	0	2.900000e-01	5.200000e-01
KRT82	3888	broad.mit.edu	37	12	52799988	52799988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52799988G>A	ENST00000257974.2	-	1	151	c.74C>T	c.(73-75)cCc>cTc	p.P25L	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82			29					GACCATCCGGGGCATGACAGC	0.632000																								0							SO:0001583	missense			ENST00000257974.2	1	1	hg19	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785530	0.70337	.	.	ENSG00000161850	ENST00000257974	D	0.82526	-1.62	5.16	5.16	0.70880	.	0.000000	0.51477	D	0.000092	D	0.87265	0.6134	L	0.48986	1.54	0.58432	D	0.999992	D	0.62365	0.991	P	0.58013	0.831	D	0.87670	0.2540	10	0.54805	T	0.06	.	18.6394	0.91390	0.0:0.0:1.0:0.0	.	25	Q9NSB4	KRT82_HUMAN	L	25	ENSP00000257974:P25L	ENSP00000257974:P25L	P	-	2	0	KRT82	51086255	0.077000	0.21312	0.570000	0.28473	0.419000	0.31324	1.176000	0.31957	2.571000	0.86741	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	1	0	1	27	133	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	27	130	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
KRT6C	286887	broad.mit.edu	37	12	52863465	52863465	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52863465G>A	ENST00000252250.6	-	7	1460	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C			23					TGCACTCCTCGCCCTCCAGCA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000252250.6	1	1	hg19	CCDS8829.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	1	0	1	92	472	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	84	464	0	149	2								-20.000000	1	1	121412	29	41	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT6C	286887	broad.mit.edu	37	12	52864412	52864412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52864412G>A	ENST00000252250.6	-	6	1127	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C			23					GCAGCTCCTCGTACTGCAGCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000252250.6	0	1	hg19	CCDS8829.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	0	0	0	58	334	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	46	263	0	147	2								-5.491565	1	1	121378	21	42	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KRT6A	3853	broad.mit.edu	37	12	52886914	52886914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52886914G>A	ENST00000330722.6	-	1	127	c.59C>T	c.(58-60)gCc>gTc	p.A20V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A			39					GGCTGAGTTGGCACTGAAACC	0.647000																								0							SO:0001583	missense			ENST00000330722.6	1	1	hg19	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035418	0.35893	.	.	ENSG00000205420	ENST00000330722	T	0.60797	0.16	5.24	5.24	0.73138	.	0.565980	0.16908	N	0.194583	T	0.58495	0.2126	L	0.56769	1.78	0.09310	N	0.999999	B	0.16603	0.018	B	0.19391	0.025	T	0.49707	-0.8911	10	0.37606	T	0.19	.	19.2638	0.93979	0.0:0.0:1.0:0.0	.	20	P02538	K2C6A_HUMAN	V	20	ENSP00000369317:A20V	ENSP00000369317:A20V	A	-	2	0	KRT6A	51173181	0.998000	0.40836	0.282000	0.24776	0.297000	0.27493	6.746000	0.74866	2.626000	0.88956	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	0	0	0	58	273	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1	49	241	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT5	3852	broad.mit.edu	37	12	52908948	52908948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52908948G>A	ENST00000252242.4	-	9	1941	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5			35					cgaggccgccgccaagacctc	0.632000																								0							SO:0001819	synonymous_variant			ENST00000252242.4	1	1	hg19	CCDS8830.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1	0	0	1	35	163	0	20	0	2.219353e-01	0	5	0	20	2		0	0	0	0	0	2	1	1	32	160	0	20	2								-20.000000	1	1	121296	9	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KRT5	3852	broad.mit.edu	37	12	52913904	52913904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52913904G>A	ENST00000252242.4	-	1	567	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5			35					GGCTGCCATAGCCACCCACTC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000252242.4	1	1	hg19	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635730	0.14322	.	.	ENSG00000186081	ENST00000456000	.	.	.	5.93	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2039	0.43101	0.2044:0.0:0.7956:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT5	51200171	0.992000	0.36948	0.814000	0.32528	0.075000	0.17131	0.863000	0.27913	0.836000	0.34901	-0.136000	0.14681	.		TCGA-IB-7651-01A-11D-2154-08	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1	1	0	1	253	392	0	102	0	9.472901e-01	0	10	0	102	2		0	0	0	0	0	2	1	1	231	378	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT73	319101	broad.mit.edu	37	12	53010165	53010165	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53010165C>T	ENST00000305748.3	-	2	482		c.e2-1		RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73			44					GGAACCGCACCTGGAACCCAT	0.507000																								0							SO:0001630	splice_region_variant			ENST00000305748.3	1	1	hg19	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658507	0.67586	.	.	ENSG00000186049	ENST00000305748	.	.	.	4.82	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5438	0.61690	0.0:0.9231:0.0:0.0769	.	.	.	.	.	-1	.	.	.	-	.	.	KRT73	51296432	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.713000	0.84693	1.347000	0.45714	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	1	0	1	87	292	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	85	290	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT2	3849	broad.mit.edu	37	12	53040535	53040535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53040535G>A	ENST00000309680.3	-	7	1479	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2			32					TGCACTCCTCGCCCTCCAGCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000309680.3	1	1	hg19	CCDS8835.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	0	0	0	44	562	1	135		0	0	0	1	135	2		0	0	0	0	0	2	1	9.999246e-01	42	546	1	133	16								-10.242630	1	1	121412	3	37	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.870000	0.630000	1.000000	1.000000	0.868127	0.870000	1	7.400000e-01	1
KRT2	3849	broad.mit.edu	37	12	53042884	53042884	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53042884G>A	ENST00000309680.3	-	4	885	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2			32					CATTGTCCACGTCCTGCAAGA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000309680.3	1	1	hg19	CCDS8835.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	1	0	1	54	251	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	51	247	0	56	2								-3.302489	1	1	121412	2	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT2	3849	broad.mit.edu	37	12	53043735	53043735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53043735C>T	ENST00000309680.3	-	3	845	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2			32					AGCAGCTGTGCGCTTATTGAT	0.433000																								0							SO:0001583	missense			ENST00000309680.3	1	1	hg19	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112912	0.77210	.	.	ENSG00000172867	ENST00000309680	D	0.89939	-2.59	5.44	3.59	0.41128	Filament (1);	.	.	.	.	D	0.94046	0.8092	M	0.86268	2.805	0.36264	D	0.854743	D	0.89917	1.0	D	0.87578	0.998	D	0.95264	0.8371	9	0.72032	D	0.01	.	10.6753	0.45783	0.1324:0.7989:0.0:0.0687	.	275	P35908	K22E_HUMAN	H	275	ENSP00000310861:R275H	ENSP00000310861:R275H	R	-	2	0	KRT2	51330002	0.990000	0.36364	0.990000	0.47175	0.815000	0.46073	3.796000	0.55507	0.777000	0.33496	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	1	0	1	64	326	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1	63	321	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT2	3849	broad.mit.edu	37	12	53044171	53044171	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53044171T>G	ENST00000309680.3	-	2	773	c.752A>C	c.(751-753)aAt>aCt	p.N251T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2			32					CAGCTCTGAATTCTGTGATGT	0.483000																								0							SO:0001583	missense			ENST00000309680.3	1	1	hg19	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211168	0.95069	.	.	ENSG00000172867	ENST00000309680	D	0.88124	-2.34	5.19	4.05	0.47172	Filament (1);	.	.	.	.	D	0.89054	0.6606	L	0.54323	1.7	0.29659	N	0.843393	P	0.46064	0.872	P	0.53988	0.739	D	0.84714	0.0736	9	0.72032	D	0.01	.	11.0304	0.47769	0.0:0.0735:0.0:0.9265	.	251	P35908	K22E_HUMAN	T	251	ENSP00000310861:N251T	ENSP00000310861:N251T	N	-	2	0	KRT2	51330438	1.000000	0.71417	0.009000	0.14445	0.905000	0.53344	6.096000	0.71446	0.943000	0.37553	0.528000	0.53228	AAT		TCGA-IB-7651-01A-11D-2154-08	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	1	0	1	198	847	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	1	196	835	0	158	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT2	3849	broad.mit.edu	37	12	53045633	53045633	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045633G>T	ENST00000309680.3	-	1	315	c.294C>A	c.(292-294)ggC>ggA	p.G98G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2			32					agctgctgccgcctccaaaac	0.627000																								0							SO:0001819	synonymous_variant			ENST00000309680.3	0	1	hg19	CCDS8835.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	1	0	0	15	102	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.999031e-01	15	101	0	10	2								-4.497188	1	1	120846	2	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.900000	1.000000	1.000000	0.994317	0.990000	1	9.900000e-01	1
KRT2	3849	broad.mit.edu	37	12	53045841	53045841	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045841A>G	ENST00000309680.3	-	1	107	c.86T>C	c.(85-87)gTg>gCg	p.V29A		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2			32					TCCACCAGACACCACAGCTGA	0.597000																								0							SO:0001583	missense			ENST00000309680.3	0	1	hg19	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770392	0.31320	.	.	ENSG00000172867	ENST00000309680	D	0.81908	-1.55	5.28	1.42	0.22433	.	.	.	.	.	T	0.75679	0.3882	L	0.58354	1.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.58691	-0.7592	9	0.24483	T	0.36	.	5.7596	0.18192	0.5801:0.1323:0.2876:0.0	.	29	P35908	K22E_HUMAN	A	29	ENSP00000310861:V29A	ENSP00000310861:V29A	V	-	2	0	KRT2	51332108	0.020000	0.18652	0.001000	0.08648	0.963000	0.63663	1.979000	0.40608	0.058000	0.16222	0.379000	0.24179	GTG		TCGA-IB-7651-01A-11D-2154-08	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	0	0	0	27	125	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1	25	123	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
KRT1	3848	broad.mit.edu	37	12	53069496	53069496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53069496A>G	ENST00000252244.3	-	8	1566	c.1508T>C	c.(1507-1509)gTg>gCg	p.V503A		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1			39					GTACTTACACACACTCACGTT	0.498000																								0							SO:0001583	missense			ENST00000252244.3	1	1	hg19	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887959	0.33348	.	.	ENSG00000167768	ENST00000252244	D	0.86030	-2.06	4.55	4.55	0.56014	.	.	.	.	.	T	0.74183	0.3683	N	0.14661	0.345	0.09310	N	1	P	0.34662	0.462	B	0.33960	0.173	T	0.68284	-0.5449	9	0.87932	D	0	.	10.6929	0.45882	0.8572:0.0:0.0:0.1428	.	503	P04264	K2C1_HUMAN	A	503	ENSP00000252244:V503A	ENSP00000252244:V503A	V	-	2	0	KRT1	51355763	0.968000	0.33430	0.754000	0.31244	0.440000	0.31957	3.630000	0.54273	1.812000	0.52913	0.379000	0.24179	GTG		TCGA-IB-7651-01A-11D-2154-08	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	1	0	1	91	443	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	91	435	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT1	3848	broad.mit.edu	37	12	53073598	53073598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53073598G>A	ENST00000252244.3	-	1	593	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1			39					TCCCTTTCTCGAGACTTCACC	0.498000																								0							SO:0001587	stop_gained			ENST00000252244.3	0	1	hg19	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.742985	0.96873	.	.	ENSG00000167768	ENST00000252244	.	.	.	4.61	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.0804	0.64917	0.0:0.4309:0.5691:0.0	.	.	.	.	X	179	.	ENSP00000252244:R179X	R	-	1	2	KRT1	51359865	0.263000	0.24083	0.917000	0.36280	0.919000	0.55068	1.490000	0.35573	1.057000	0.40506	0.448000	0.29417	CGA		TCGA-IB-7651-01A-11D-2154-08	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	1	0	1	107	522	1	115		0	0	0	1	115	2		0	0	0	0	0	2	1	1	102	504	1	115	18								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT76	51350	broad.mit.edu	37	12	53165978	53165978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53165978C>T	ENST00000332411.2	-	5	1090	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76			27					GTCCAGGCAGCGGTTGTTGTC	0.567000																								0							SO:0001583	missense			ENST00000332411.2	0	1	hg19	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454347	0.84209	.	.	ENSG00000185069	ENST00000332411	D	0.87729	-2.29	4.42	3.52	0.40303	Filament (1);	0.000000	0.45126	D	0.000382	D	0.91948	0.7450	M	0.75615	2.305	0.52501	D	0.999955	D	0.76494	0.999	D	0.67103	0.949	D	0.92559	0.6056	10	0.87932	D	0	.	12.8514	0.57860	0.0:0.9184:0.0:0.0816	.	346	Q01546	K22O_HUMAN	H	346	ENSP00000330101:R346H	ENSP00000330101:R346H	R	-	2	0	KRT76	51452245	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	4.984000	0.63838	1.169000	0.42739	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	0	0	0	6	230	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	9.650822e-01	7	228	0	79	2								-7.202427	1	0	121412	1	24	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.330000	0.130000	1.000000	0.290000	0.383834	0.330000	0	2.100000e-01	5.100000e-01
KRT76	51350	broad.mit.edu	37	12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76			27					GTAGAGGCTGCGACTGCCAAA	0.672000																								0							SO:0001583	missense			ENST00000332411.2	0	1	hg19	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.910085	0.33721	.	.	ENSG00000185069	ENST00000332411	D	0.85702	-2.02	4.47	-4.05	0.03998	.	0.938675	0.08869	N	0.881819	T	0.78509	0.4294	L	0.53729	1.69	0.19300	N	0.999972	B	0.13594	0.008	B	0.06405	0.002	T	0.64179	-0.6468	10	0.56958	D	0.05	.	7.6108	0.28129	0.1102:0.3299:0.0:0.5599	.	56	Q01546	K22O_HUMAN	H	56	ENSP00000330101:R56H	ENSP00000330101:R56H	R	-	2	0	KRT76	51457176	0.000000	0.05858	0.033000	0.17914	0.907000	0.53573	-0.101000	0.10973	-0.905000	0.03871	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	0	0	0	15	839	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	9.998471e-01	15	821	0	135	2								-2.273191	0	1	121412	2	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.210000	0.120000	1.000000	0.210000	0.270354	0.210000	0	1.600000e-01	2.900000e-01
KRT3	3850	broad.mit.edu	37	12	53186985	53186985	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53186985G>A	ENST00000417996.2	-	3	963	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3			23					GCAGCTGTACGTTTATTGATT	0.443000																								0							SO:0001583	missense			ENST00000417996.2	1	1	hg19	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854991	0.71719	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90069	-2.61;-2.61	4.59	4.59	0.56863	Filament (1);	0.142736	0.32769	N	0.005676	D	0.94647	0.8274	M	0.91768	3.24	0.48511	D	0.999661	D	0.67145	0.996	P	0.59115	0.852	D	0.95900	0.8914	10	0.87932	D	0	.	15.9243	0.79603	0.0:0.0:1.0:0.0	.	297	P12035	K2C3_HUMAN	C	297	ENSP00000413479:R297C;ENSP00000312206:R297C	ENSP00000312206:R297C	R	-	1	0	KRT3	51473252	0.848000	0.29623	0.998000	0.56505	0.982000	0.71751	2.361000	0.44160	2.263000	0.75096	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	1	0	1	18	55	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999910e-01	17	54	0	17	2								-20.000000	1	1	121196	7	33	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
KRT3	3850	broad.mit.edu	37	12	53189544	53189544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53189544C>A	ENST00000417996.2	-	1	357	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3			23					ccaaagccacctccatagcca	0.642000																								0							SO:0001583	missense			ENST00000417996.2	1	1	hg19	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	9.383	1.073530	0.20147	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.90732	-2.72;-2.72	4.95	0.391	0.16282	.	.	.	.	.	D	0.93664	0.7976	M	0.90483	3.12	0.32257	N	0.570634	D	0.71674	0.998	P	0.54372	0.75	D	0.92072	0.5665	9	0.48119	T	0.1	.	10.6718	0.45762	0.0:0.8556:0.0:0.1444	.	95	P12035	K2C3_HUMAN	C	95	ENSP00000413479:G95C;ENSP00000312206:G95C	ENSP00000312206:G95C	G	-	1	0	KRT3	51475811	0.001000	0.12720	0.900000	0.35374	0.473000	0.32948	0.351000	0.20096	-0.149000	0.11215	-0.438000	0.05819	GGT		TCGA-IB-7651-01A-11D-2154-08	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	1	0	0	72	637	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	69	626	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.950000	1.000000	1.000000	0.997512	0.990000	1	9.900000e-01	1
KRT4	3851	broad.mit.edu	37	12	53207653	53207653	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53207653T>A	ENST00000551956.1	-	1	682	c.190A>T	c.(190-192)Agt>Tgt	p.S64C	KRT4_ENST00000293774.4_Missense_Mutation_p.S138C|KRT4_ENST00000458244.2_Intron			P19013	K2C4_HUMAN	keratin 4			29					CCAGCCACACTCATGGAGATG	0.582000													Pancreas(190;284 2995 41444 45903)											0							SO:0001583	missense			ENST00000551956.1	1	1	hg19	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670130	0.47677	.	.	ENSG00000170477	ENST00000551956;ENST00000293774	D;T	0.86956	-2.19;2.12	5.0	3.82	0.43975	.	0.000000	0.56097	D	0.000024	D	0.89455	0.6720	M	0.72894	2.215	0.58432	D	0.999995	.	.	.	.	.	.	D	0.88758	0.3255	8	0.72032	D	0.01	.	8.6374	0.33957	0.0:0.1648:0.0:0.8352	.	.	.	.	C	64;138	ENSP00000448220:S64C;ENSP00000293774:S138C	ENSP00000293774:S138C	S	-	1	0	KRT4	51493920	.	.	0.787000	0.31911	0.595000	0.36748	.	.	0.976000	0.38417	0.477000	0.44152	AGT		TCGA-IB-7651-01A-11D-2154-08	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	1	0	1	214	935	0	251	0	0	0	1	0	251	2		0	0	0	0	0	2	1	1	210	909	0	247	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT79	338785	broad.mit.edu	37	12	53224076	53224076	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53224076C>T	ENST00000330553.5	-	3	733	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79			30					CATCCTCGTACCTGTTACACA	0.572000																								0							SO:0001630	splice_region_variant			ENST00000330553.5	1	0	hg19	CCDS8839.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	1	0	1	67	384	0	84	0	1.100140e-01	0	4	0	84	2		0	0	0	0	0	2	1	1	65	374	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT79	338785	broad.mit.edu	37	12	53227585	53227585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53227585C>T	ENST00000330553.5	-	1	494	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79			30					ATGAAGGAGGCGAACTTGTTG	0.612000																								0							SO:0001583	missense			ENST00000330553.5	1	1	hg19	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474512	0.84640	.	.	ENSG00000185640	ENST00000330553	D	0.95205	-3.64	4.26	4.26	0.50523	Filament (1);	0.000000	0.48286	D	0.000188	D	0.98049	0.9357	H	0.95114	3.625	0.54753	D	0.999989	D	0.76494	0.999	D	0.76575	0.988	D	0.98942	1.0791	10	0.87932	D	0	.	16.9074	0.86131	0.0:1.0:0.0:0.0	.	154	Q5XKE5	K2C79_HUMAN	T	154	ENSP00000328358:A154T	ENSP00000328358:A154T	A	-	1	0	KRT79	51513852	1.000000	0.71417	0.976000	0.42696	0.725000	0.41563	7.602000	0.82796	2.643000	0.89663	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	1	0	1	136	759	0	178	0	2.341875e-02	0	2	0	178	2		0	0	0	0	0	2	1	1	133	743	0	175	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4B	1975	broad.mit.edu	37	12	53421816	53421816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421816G>T	ENST00000262056.9	+	8	1149	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	EIF4B_ENST00000420463.3_Missense_Mutation_p.G275C|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B			22					TTCCCGGATAGGCAGTGGCAG	0.473000																								0							SO:0001583	missense			ENST00000262056.9	1	1	hg19	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200477	0.58126	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.57907	0.37;0.43;0.47;0.58	4.48	4.48	0.54585	.	0.062947	0.64402	D	0.000005	T	0.69735	0.3144	M	0.65498	2.005	0.51012	D	0.999909	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	T	0.72462	-0.4286	10	0.59425	D	0.04	.	14.7482	0.69505	0.0:0.0:1.0:0.0	.	236;275;251;275	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	275;275;251;236;230;229	ENSP00000262056:G275C;ENSP00000388806:G275C;ENSP00000449746:G230C;ENSP00000450324:G229C	ENSP00000262056:G275C	G	+	1	0	EIF4B	51708083	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.337000	0.65941	2.409000	0.81822	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	1	0	0	24	531	0	92	1	1	44	884	0	92	2		0	0	0	0	0	2	1	9.999996e-01	24	525	0	91	2								-3.120347	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.520000	0.340000	1.000000	0.510000	0.557560	0.520000	0	4.200000e-01	6.600000e-01
EIF4B	1975	broad.mit.edu	37	12	53421850	53421850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421850G>A	ENST00000262056.9	+	8	1183	c.857G>A	c.(856-858)cGc>cAc	p.R286H	EIF4B_ENST00000420463.3_Missense_Mutation_p.R286H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B			22					AGTGGGTATCGCAGGGATGAT	0.498000																								0							SO:0001583	missense			ENST00000262056.9	1	1	hg19	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942603	0.73672	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.54675	0.56;0.56;0.61;0.69	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.74647	2.275	0.54753	D	0.999982	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.98;0.98;0.98	T	0.75393	-0.3333	10	0.56958	D	0.05	.	16.088	0.81070	0.0:0.0:1.0:0.0	.	247;286;262;286	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	286;286;262;247;241;240	ENSP00000262056:R286H;ENSP00000388806:R286H;ENSP00000449746:R241H;ENSP00000450324:R240H	ENSP00000262056:R286H	R	+	2	0	EIF4B	51708117	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	9.089000	0.94137	2.292000	0.77174	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	1	0	0	19	450	0	81	1	1	50	1324	0	81	2		0	0	0	0	0	2	1	9.999886e-01	18	439	0	81	2								-3.221215	1	0	120866	1	36	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.490000	0.300000	1.000000	0.480000	0.530233	0.490000	0	3.800000e-01	6.400000e-01
EIF4B	1975	broad.mit.edu	37	12	53427635	53427635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53427635C>A	ENST00000262056.9	+	9	1351	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	EIF4B_ENST00000420463.3_Missense_Mutation_p.P342H|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B			22					CGGAGTACTCCTAAGGAAGAT	0.458000																								0							SO:0001583	missense			ENST00000262056.9	1	1	hg19	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391431	0.83011	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481	D;T;T	0.94184	-3.37;0.58;0.57	4.76	4.76	0.60689	.	0.175924	0.49916	D	0.000137	D	0.96414	0.8830	M	0.75615	2.305	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.986;0.994;0.99	D	0.96833	0.9612	10	0.87932	D	0	.	17.2267	0.86972	0.0:1.0:0.0:0.0	.	303;342;318;342	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	342;342;318;303;297	ENSP00000262056:P342H;ENSP00000388806:P342H;ENSP00000449746:P297H	ENSP00000262056:P342H	P	+	2	0	EIF4B	51713902	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.950000	0.75977	2.595000	0.87683	0.460000	0.39030	CCT		TCGA-IB-7651-01A-11D-2154-08	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	1	0	1	45	169	0	63	1	1	309	863	0	63	2		0	0	0	0	0	2	1	1	43	162	0	65	2								-3.361013	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TENC1	23371	broad.mit.edu	37	12	53454543	53454543	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53454543G>A	ENST00000314250.6	+	20	3143	c.2853G>A	c.(2851-2853)caG>caA	p.Q951Q	TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000546602.1_Silent_p.Q854Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000549700.1_Silent_p.Q886Q|TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000451358.1_Silent_p.Q941Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)			34					CTGTTTCCCAGGCAGGCACCG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000314250.6	1	1	hg19	CCDS8843.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	1	0	1	20	172	0	34	1	9.999499e-01	3	142	0	34	2		0	0	0	0	0	2	1	9.999966e-01	20	172	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.790000	1.000000	1.000000	0.982975	0.990000	1	9.900000e-01	1
TENC1	23371	broad.mit.edu	37	12	53456960	53456960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53456960G>A	ENST00000314250.6	+	26	4201	c.3911G>A	c.(3910-3912)aGc>aAc	p.S1304N	TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000546602.1_Missense_Mutation_p.S1207N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)			34					GCAGCTCTGAGCTGTAGCCCC	0.607000																								0							SO:0001583	missense			ENST00000314250.6	1	1	hg19	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820665	0.32145	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	3.91	3.01	0.34805	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.410378	0.23215	N	0.050621	T	0.22003	0.0530	L	0.37850	1.14	0.32095	N	0.591301	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.002;0.0;0.003;0.003	T	0.13899	-1.0492	10	0.49607	T	0.09	.	7.4795	0.27395	0.1205:0.0:0.8795:0.0	.	1302;1304;1207;1304;1314	Q63HR2-6;A7E2A6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;.;TENC1_HUMAN;.	N	1180;1314;1304;1294;676;1207;1302;1239	ENSP00000369232:S1180N;ENSP00000319756:S1314N;ENSP00000319684:S1304N;ENSP00000393362:S1294N;ENSP00000449363:S1207N;ENSP00000447021:S1302N;ENSP00000449361:S1239N	ENSP00000319684:S1304N	S	+	2	0	TENC1	51743227	0.973000	0.33851	1.000000	0.80357	0.982000	0.71751	1.105000	0.31086	0.997000	0.38969	0.511000	0.50034	AGC		TCGA-IB-7651-01A-11D-2154-08	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	1	0	0	26	305	0	79	1	9.999890e-01	9	206	0	79	2		0	0	0	0	0	2	1	9.999999e-01	26	301	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.940000	0.630000	1.000000	1.000000	0.906194	0.940000	1	7.700000e-01	1
SOAT2	8435	broad.mit.edu	37	12	53497948	53497948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53497948G>A	ENST00000301466.3	+	2	156	c.96G>A	c.(94-96)acG>acA	p.T32T		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2			18				Hesperetin(DB01094)	ACACTGAGACGCACAGAGCCC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000301466.3	1	1	hg19	CCDS8847.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1	1	0	1	65	335	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1	60	322	0	112	2								-20.000000	1	1	121412	1	37	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSAD	51380	broad.mit.edu	37	12	53565117	53565117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53565117G>A	ENST00000444623.1	-	8	827	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CSAD_ENST00000379846.1_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000267085.4_Missense_Mutation_p.S214L|CSAD_ENST00000491654.1_5'Flank	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase			14				L-Cysteine(DB00151)	CACCTCCTTCGATGTGAATAG	0.587000													Ovarian(109;252 1546 16882 28524 44645)											0							SO:0001583	missense			ENST00000444623.1	1	1	hg19	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281540	0.95489	.	.	ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000453446;ENST00000454442	T;T;T	0.57273	0.41;0.41;0.41	5.36	5.36	0.76844	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199464	0.44902	D	0.000412	T	0.81123	0.4757	H	0.95884	3.735	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.65443	0.933;0.935	D	0.87121	0.2191	10	0.87932	D	0	-6.8019	18.2528	0.90009	0.0:0.0:1.0:0.0	.	214;187	Q9Y600-3;Q9Y600	.;CSAD_HUMAN	L	276;214;187;187;187;81	ENSP00000267085:S214L;ENSP00000415485:S187L;ENSP00000410648:S187L	ENSP00000267085:S214L	S	-	2	0	CSAD	51851384	1.000000	0.71417	0.475000	0.27278	0.918000	0.54935	9.131000	0.94446	2.682000	0.91365	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	1	0	1	60	257	0	60	0	6.432028e-01	1	10	0	60	2		0	0	0	0	0	2	1	1	60	252	0	60	2								-3.195679	1	1	121412	3	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB7	3695	broad.mit.edu	37	12	53590575	53590575	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53590575G>A	ENST00000267082.5	-	6	835	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	ITGB7_ENST00000422257.3_Silent_p.L202L|ITGB7_ENST00000338737.4_Silent_p.L202L|ITGB7_ENST00000550743.2_Silent_p.L202L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7			30					ACAAAGGGCAGCACCGTTTTG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000267082.5	1	1	hg19	CCDS8849.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2	1	0	1	30	134	0	37	1	9.993916e-01	5	50	0	37	2		0	0	0	0	0	2	1	1	29	126	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
RARG	5916	broad.mit.edu	37	12	53607427	53607427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607427C>T	ENST00000425354.2	-	8	1358	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	RARG_ENST00000543726.1_Missense_Mutation_p.G269R|RARG_ENST00000338561.5_Missense_Mutation_p.G280R|RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma			20				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGGTCAGCCCGTCGGAGAAG	0.617000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000425354.2	1	1	hg19	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391539	0.83011	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.997;0.999	D	0.99744	1.1016	10	0.87932	D	0	.	17.3466	0.87311	0.0:1.0:0.0:0.0	.	328;269;291;280	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	R	291;291;53;219;280;269;328	ENSP00000388510:G291R;ENSP00000377947:G291R;ENSP00000332695:G219R;ENSP00000343698:G280R;ENSP00000444335:G269R	ENSP00000332695:G219R	G	-	1	0	RARG	51893694	1.000000	0.71417	0.948000	0.38648	0.683000	0.39861	7.773000	0.85462	2.466000	0.83321	0.313000	0.20887	GGG		TCGA-IB-7651-01A-11D-2154-08	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	1	0	1	67	304	0	80	1	9.999977e-01	5	83	0	80	2		0	0	0	0	0	2	1	1	66	291	0	79	2								-2.709322	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RARG	5916	broad.mit.edu	37	12	53607995	53607995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607995G>A	ENST00000425354.2	-	7	1148	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma			20				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGATCCAGCTGCACGCGGTGG	0.567000																								0							SO:0001587	stop_gained			ENST00000425354.2	0	1	hg19	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	40	8.151613	0.98678	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.	.	.	5.37	4.48	0.54585	.	0.106321	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.074	0.59077	0.0793:0.0:0.9207:0.0	.	.	.	.	X	221;221;149;210;199;258	.	ENSP00000332695:Q149X	Q	-	1	0	RARG	51894262	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	4.104000	0.57790	1.403000	0.46800	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	1	0	1	92	430	0	106	1	9.999999e-01	9	98	0	106	2		0	0	0	0	0	2	1	1	90	419	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESPL1	9700	broad.mit.edu	37	12	53675330	53675330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53675330G>A	ENST00000257934.4	+	13	2630	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)			70					GAAGCATCTCGATCAGACTAC	0.478000													Colon(53;1069 1201 2587 5382)											0							SO:0001583	missense			ENST00000257934.4	1	1	hg19	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803375	0.31869	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13196	2.61;2.61	5.1	1.28	0.21552	.	0.656930	0.16737	N	0.201619	T	0.23727	0.0574	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.997;0.983	P;P	0.54431	0.752;0.57	T	0.06267	-1.0836	10	0.54805	T	0.06	.	7.4098	0.27011	0.346:0.0:0.654:0.0	.	58;847	B4DRU1;Q14674	.;ESPL1_HUMAN	N	847;522;847	ENSP00000257934:D847N;ENSP00000449831:D847N	ENSP00000257934:D847N	D	+	1	0	ESPL1	51961597	0.070000	0.21116	0.000000	0.03702	0.117000	0.20001	0.925000	0.28791	0.138000	0.18790	-0.224000	0.12420	GAT		TCGA-IB-7651-01A-11D-2154-08	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	1	0	1	111	500	0	107	0	3.351606e-02	0	2	0	107	2		0	0	0	0	0	2	1	1	107	483	0	107	2								-2.942349	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESPL1	9700	broad.mit.edu	37	12	53680262	53680262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53680262C>T	ENST00000257934.4	+	18	3833	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)			70					GAAGGTTCTACAGTCAGGGCT	0.557000													Colon(53;1069 1201 2587 5382)											0							SO:0001587	stop_gained			ENST00000257934.4	0	1	hg19	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921299	0.97936	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.06	3.23	0.37069	.	0.202468	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.1702	0.54155	0.0:0.3313:0.6686:0.0	.	.	.	.	X	1248;923;1248	.	ENSP00000257934:Q1248X	Q	+	1	0	ESPL1	51966529	0.963000	0.33076	0.335000	0.25508	0.198000	0.23893	2.103000	0.41806	0.835000	0.34877	-0.228000	0.12330	CAG		TCGA-IB-7651-01A-11D-2154-08	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	1	0	0	135	602	0	196	0	3.407088e-02	0	2	0	196	2		0	0	0	0	0	2	1	1	134	597	0	193	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AAAS	8086	broad.mit.edu	37	12	53708104	53708104	+	Missense_Mutation	SNP	C	C	T	rs141013947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53708104C>T	ENST00000209873.4	-	7	832	c.667G>A	c.(667-669)Gac>Aac	p.D223N	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N|AAAS_ENST00000550286.1_Missense_Mutation_p.D99N	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia			20					GAGGTAGGGTCCAGGGTCCAG	0.582000																								0							SO:0001583	missense			ENST00000209873.4	1	1	hg19	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267049	0.95399	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.96073	-3.9;-3.89;-3.9;-0.01	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96428	0.9317	10	0.44086	T	0.13	-24.581	16.5538	0.84479	0.0:1.0:0.0:0.0	.	190;223	Q5JB47;Q9NRG9	.;AAAS_HUMAN	N	223;190;99;190	ENSP00000209873:D223N;ENSP00000377908:D190N;ENSP00000446885:D99N;ENSP00000448020:D190N	ENSP00000209873:D223N	D	-	1	0	AAAS	51994371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.094000	0.76944	2.859000	0.98148	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1	1	0	1	108	634	0	206	1	9.999998e-01	36	89	0	206	2		0	0	0	0	0	2	1	1	107	623	0	205	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP7	121340	broad.mit.edu	37	12	53722858	53722858	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53722858G>T	ENST00000536324.2	-	3	651	c.368C>A	c.(367-369)cCc>cAc	p.P123H	SP7_ENST00000303846.3_Missense_Mutation_p.P123H|SP7_ENST00000537210.2_Missense_Mutation_p.P105H	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor			14					GTAGACACTGGGCAGACAGTC	0.577000																								0							SO:0001583	missense			ENST00000536324.2	1	1	hg19	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030371	0.35797	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.42900	3.33;3.33;3.33;0.96	3.79	2.85	0.33270	.	0.209202	0.39834	N	0.001260	T	0.42404	0.1201	N	0.24115	0.695	0.43540	D	0.995831	D	0.64830	0.994	P	0.59221	0.854	T	0.24333	-1.0163	10	0.37606	T	0.19	.	11.9609	0.53007	0.0:0.0:0.8241:0.1759	.	123	Q8TDD2	SP7_HUMAN	H	123;123;105;105	ENSP00000443827:P123H;ENSP00000302812:P123H;ENSP00000441367:P105H;ENSP00000449355:P105H	ENSP00000302812:P123H	P	-	2	0	SP7	52009125	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.761000	0.55242	1.108000	0.41662	0.313000	0.20887	CCC		TCGA-IB-7651-01A-11D-2154-08	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1	1	0	0	57	256	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	57	251	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP1	6667	broad.mit.edu	37	12	53776411	53776411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53776411C>A	ENST00000327443.4	+	3	778	c.680C>A	c.(679-681)gCt>gAt	p.A227D	SP1_ENST00000426431.2_Missense_Mutation_p.A220D	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor			5					ATCATTGCTGCTATGCCAAAC	0.502000																								0							SO:0001583	missense			ENST00000327443.4	1	1	hg19	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313154	0.60414	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08193	3.15;3.12	4.39	4.39	0.52855	.	0.000000	0.56097	D	0.000027	T	0.11452	0.0279	L	0.29908	0.895	0.58432	D	0.999999	P	0.52842	0.956	P	0.50270	0.636	T	0.18335	-1.0340	10	0.29301	T	0.29	.	16.2766	0.82646	0.0:1.0:0.0:0.0	.	227	P08047	SP1_HUMAN	D	227;220	ENSP00000329357:A227D;ENSP00000404263:A220D	ENSP00000329357:A227D	A	+	2	0	SP1	52062678	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.211000	0.42825	2.456000	0.83038	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1	1	0	1	68	372	0	93	1	1	45	95	0	93	2		0	0	0	0	0	2	1	1	65	362	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMHR2	269	broad.mit.edu	37	12	53818959	53818959	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53818959C>A	ENST00000257863.4	+	4	515	c.435C>A	c.(433-435)atC>atA	p.I145I	AMHR2_ENST00000550311.1_Silent_p.I145I|AMHR2_ENST00000379791.3_Silent_p.I145I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II			34				Adenosine triphosphate(DB00171)	GTGAGTCCATCTGGATGGCAC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000257863.4	1	1	hg19	CCDS8858.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	0	0	0	13	439	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	9.994746e-01	13	429	0	70	2								-3.182268	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.350000	0.190000	1.000000	0.330000	0.402551	0.350000	0	2.600000e-01	4.900000e-01
AMHR2	269	broad.mit.edu	37	12	53823757	53823757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823757G>A	ENST00000257863.4	+	9	1363	c.1283G>A	c.(1282-1284)aGg>aAg	p.R428K	AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II			34				Adenosine triphosphate(DB00171)	CCAGATTTGAGGCCTGGTAAG	0.587000																								0							SO:0001583	missense			ENST00000257863.4	1	1	hg19	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224872	0.39300	.	.	ENSG00000135409	ENST00000257863;ENST00000550311	T;T	0.64085	-0.08;-0.08	4.86	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.173220	0.06544	N	0.743676	T	0.49712	0.1573	L	0.31664	0.95	0.39683	D	0.970929	B;B	0.20164	0.034;0.042	B;B	0.26202	0.025;0.067	T	0.47446	-0.9117	10	0.29301	T	0.29	.	4.7159	0.12894	0.1342:0.0:0.6618:0.204	.	428;428	F8W1D2;Q16671	.;AMHR2_HUMAN	K	428	ENSP00000257863:R428K;ENSP00000446661:R428K	ENSP00000257863:R428K	R	+	2	0	AMHR2	52110024	0.038000	0.19896	0.844000	0.33320	0.981000	0.71138	0.976000	0.29462	1.282000	0.44496	0.557000	0.71058	AGG		TCGA-IB-7651-01A-11D-2154-08	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	1	0	1	134	537	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	130	523	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMHR2	269	broad.mit.edu	37	12	53823984	53823984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823984C>T	ENST00000257863.4	+	10	1423	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AMHR2_ENST00000550311.1_Silent_p.L447L|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II			34				Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587000																								0							SO:0001583	missense			ENST00000257863.4	1	1	hg19	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034635	0.75617	.	.	ENSG00000135409	ENST00000257863	T	0.65178	-0.14	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39020	N	0.001489	T	0.79423	0.4443	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81415	-0.0943	9	0.87932	D	0	.	15.8836	0.79222	0.0:1.0:0.0:0.0	.	448	Q16671	AMHR2_HUMAN	L	448	ENSP00000257863:P448L	ENSP00000257863:P448L	P	+	2	0	AMHR2	52110251	0.997000	0.39634	0.542000	0.28115	0.552000	0.35366	5.059000	0.64306	2.822000	0.97130	0.557000	0.71058	CCT		TCGA-IB-7651-01A-11D-2154-08	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	1	0	1	287	1060	0	288	0	4.570299e-02	0	2	0	288	2		0	0	0	0	0	2	1	1	281	1035	0	283	2								-2.935703	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMHR2	269	broad.mit.edu	37	12	53825160	53825160	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53825160T>A	ENST00000257863.4	+	11	1705	c.1625T>A	c.(1624-1626)cTc>cAc	p.L542H	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II			34				Adenosine triphosphate(DB00171)	CCTACCATCCTCCCCTGTAGG	0.577000																								0							SO:0001583	missense			ENST00000257863.4	1	1	hg19	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771421	0.31320	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.94687	-3.44;-3.49	4.86	2.52	0.30459	.	0.512495	0.14745	N	0.300902	D	0.89371	0.6696	N	0.19112	0.55	0.09310	N	1	P	0.51653	0.947	P	0.47206	0.541	T	0.82414	-0.0469	10	0.87932	D	0	.	5.5994	0.17345	0.0:0.2264:0.0:0.7736	.	542	Q16671	AMHR2_HUMAN	H	542;447	ENSP00000257863:L542H;ENSP00000369117:L447H	ENSP00000257863:L542H	L	+	2	0	AMHR2	52111427	0.000000	0.05858	0.215000	0.23724	0.606000	0.37113	-0.026000	0.12392	0.973000	0.38340	0.460000	0.39030	CTC		TCGA-IB-7651-01A-11D-2154-08	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	1	0	1	98	387	0	96	0	0	0	1	0	96	2		0	0	0	0	0	2	1	1	97	374	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCBP2	5094	broad.mit.edu	37	12	53861069	53861069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53861069G>A	ENST00000439930.3	+	10	813	c.791G>A	c.(790-792)gGa>gAa	p.G264E	PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|PCBP2_ENST00000603815.1_Missense_Mutation_p.G264E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2			15					GGCAACACCGGATTCAGTGGT	0.463000																								0							SO:0001583	missense			ENST00000439930.3	1	1	hg19	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959545	0.74016	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.84;1.41;1.44;1.4;1.41;1.45;1.34;1.34;1.81;1.4;1.4;1.44	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.56187	0.1968	M	0.64404	1.975	0.80722	D	1	P;P;B;B;D;B;B;B;B;B;B	0.63880	0.639;0.73;0.039;0.076;0.993;0.047;0.004;0.039;0.076;0.149;0.023	B;B;B;B;D;B;B;B;B;B;B	0.64595	0.305;0.382;0.067;0.236;0.927;0.082;0.037;0.067;0.104;0.236;0.03	T	0.44559	-0.9320	10	0.26408	T	0.33	.	18.6361	0.91379	0.0:0.0:1.0:0.0	.	233;260;221;264;206;233;229;260;229;264;260	B4DXP5;B4DLC0;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	E	260;229;233;229;264;219;264;206;260;260;221;233;229;233;181;93	ENSP00000446130:G260E;ENSP00000352228:G229E;ENSP00000394116:G233E;ENSP00000390304:G229E;ENSP00000408949:G264E;ENSP00000447670:G219E;ENSP00000352438:G264E;ENSP00000448762:G260E;ENSP00000448927:G260E;ENSP00000449070:G233E;ENSP00000388008:G229E;ENSP00000449062:G233E	ENSP00000352228:G229E	G	+	2	0	PCBP2	52147336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.923000	0.63412	2.702000	0.92279	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	1	0	1	78	333	0	106	1	1	387	1798	0	106	2		0	0	0	0	0	2	1	1	77	323	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCBP2	5094	broad.mit.edu	37	12	53873226	53873226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53873226G>A	ENST00000439930.3	+	14	1120	c.1098G>A	c.(1096-1098)taG>taA	p.*366*	PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000603815.1_Silent_p.*366*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000455667.3_Silent_p.*319*|PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000552296.2_Silent_p.*362*			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2			15					GGAGCAGCTAGAACAATGCAG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000439930.3	0	1	hg19	CCDS44901.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	1	0	0	40	137	0	27	1	1	455	1700	0	27	2		0	0	0	0	0	2	1	1	40	130	0	27	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K12	7786	broad.mit.edu	37	12	53879181	53879181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53879181C>A	ENST00000267079.2	-	6	1026	c.801G>T	c.(799-801)aaG>aaT	p.K267N	MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300N|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12			37					CAAAGGACATCTTGGTGCTCT	0.502000																								0							SO:0001583	missense			ENST00000267079.2	1	1	hg19	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595786	0.66332	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.83673	-1.75;-1.75;-1.75	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000284	T	0.81777	0.4894	L	0.28458	0.855	0.80722	D	1	B;B	0.32968	0.34;0.392	B;B	0.44224	0.316;0.444	T	0.82422	-0.0465	10	0.59425	D	0.04	.	17.24	0.87010	0.0:1.0:0.0:0.0	.	300;267	G3V1Y2;Q12852	.;M3K12_HUMAN	N	267;300;300	ENSP00000267079:K267N;ENSP00000449038:K300N;ENSP00000448689:K300N	ENSP00000267079:K267N	K	-	3	2	MAP3K12	52165448	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.669000	0.25142	2.688000	0.91661	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	0	0	0	38	1170	0	208	0	2.402196e-01	0	29	0	208	2		0	0	0	0	0	2	1	1	37	1139	0	206	2								-3.236759	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.370000	0.260000	1.000000	0.370000	0.420159	0.370000	0	3.100000e-01	4.600000e-01
MAP3K12	7786	broad.mit.edu	37	12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880791G>A	ENST00000267079.2	-	3	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12			37					CAGACAGGGCGCAGGCAGCCA	0.602000																								0							SO:0001583	missense			ENST00000267079.2	1	1	hg19	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316940	0.60524	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.77489	-1.09;-1.1;-1.1	4.73	4.73	0.59995	.	0.000000	0.42821	D	0.000645	T	0.78848	0.4348	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.899	T	0.80710	-0.1261	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.6951:0.3049	.	129;96	G3V1Y2;Q12852	.;M3K12_HUMAN	C	96;129;129	ENSP00000267079:R96C;ENSP00000449038:R129C;ENSP00000448689:R129C	ENSP00000267079:R96C	R	-	1	0	MAP3K12	52167058	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	1.747000	0.38298	2.353000	0.79882	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	1	0	1	76	353	0	74	1	9.797934e-01	4	27	0	74	2		0	0	0	0	0	2	1	1	73	345	0	73	2								-3.376867	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPFF	8620	broad.mit.edu	37	12	53901208	53901208	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53901208G>A	ENST00000267017.3	-	1	214	c.51C>T	c.(49-51)gaC>gaT	p.D17D	NPFF_ENST00000609999.1_De_novo_Start_OutOfFrame|RP11-793H13.10_ENST00000591834.1_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor			3					CACAGCCCCCGTCTATTAACA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000267017.3	1	0	hg19	CCDS8862.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	0	0	1	70	295	1	74	0	9.857663e-02	0	3	1	74	2		0	0	0	0	0	2	1	1	70	287	1	73	17								-3.119079	1	1	121412	6	41	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXC13	3229	broad.mit.edu	37	12	54333171	54333171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54333171C>T	ENST00000243056.3	+	1	637	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13			3					GGGCGCCCTGCCCGGTGACGA	0.657000			T	NUP98	AML										Dom	yes		12	12q13.3	3229	homeo box C13		L	0							SO:0001583	missense			ENST00000243056.3	1	1	hg19	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524974	0.27299	.	.	ENSG00000123364	ENST00000243056	T	0.35605	1.3	2.69	2.69	0.31865	.	0.068700	0.64402	D	0.000013	T	0.23410	0.0566	N	0.20610	0.595	0.51012	D	0.999909	B	0.17465	0.022	B	0.20184	0.028	T	0.07028	-1.0794	10	0.27785	T	0.31	.	13.2295	0.59933	0.0:1.0:0.0:0.0	.	161	P31276	HXC13_HUMAN	S	161	ENSP00000243056:P161S	ENSP00000243056:P161S	P	+	1	0	HOXC13	52619438	0.979000	0.34478	0.998000	0.56505	0.857000	0.48899	2.205000	0.42770	1.849000	0.53698	0.313000	0.20887	CCC		TCGA-IB-7651-01A-11D-2154-08	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2	1	0	0	23	91	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999997e-01	23	90	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
HOXC11	3227	broad.mit.edu	37	12	54367428	54367428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54367428G>A	ENST00000546378.1	+	1	519	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11			2					CGCAACCCCCGCCGGCTTCTA	0.657000			T	NUP98	AML										Dom	yes		12	12q13.3	3227	homeo box C11		L	0							SO:0001583	missense			ENST00000546378.1	1	1	hg19	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093691	0.20471	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.42900	0.96;0.96	3.78	3.78	0.43462	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.166295	0.56097	D	0.000031	T	0.14527	0.0351	N	0.01464	-0.85	0.34893	D	0.745777	B	0.14012	0.009	B	0.12156	0.007	T	0.11792	-1.0573	10	0.30078	T	0.28	.	5.8294	0.18572	0.2113:0.0:0.7887:0.0	.	135	O43248	HXC11_HUMAN	T	135	ENSP00000446680:A135T;ENSP00000243082:A135T	ENSP00000243082:A135T	A	+	1	0	HOXC11	52653695	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.622000	0.46427	2.386000	0.81285	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2	0	0	0	51	1411	0	166		0	0	0	0	166	2		0	0	0	0	0	2	1	1	51	1378	0	160	2								-3.131318	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.410000	0.300000	1.000000	0.410000	0.456722	0.410000	0	3.500000e-01	4.900000e-01
HOXC9	3225	broad.mit.edu	37	12	54394142	54394142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54394142C>T	ENST00000303450.4	+	1	240	c.170C>T	c.(169-171)cCc>cTc	p.P57L	HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9			14					AGCTTCGCGCCCAAGCCGGCA	0.687000																								0							SO:0001583	missense			ENST00000303450.4	1	1	hg19	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515582	0.85389	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.95885	-3.84;-3.84	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000001	D	0.97949	0.9325	M	0.91406	3.205	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.98931	1.0787	10	0.87932	D	0	.	15.4974	0.75666	0.0:1.0:0.0:0.0	.	57	P31274	HXC9_HUMAN	L	57	ENSP00000423861:P57L;ENSP00000302836:P57L	ENSP00000302836:P57L	P	+	2	0	HOXC9	52680409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.430000	0.80321	2.268000	0.75426	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1	1	0	0	55	274	0	58	0	0	1	0	0	58	2		0	0	0	0	0	2	1	1	52	269	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXC5	3222	broad.mit.edu	37	12	54426931	54426931	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54426931T>G	ENST00000312492.2	+	1	295	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5			12					AGCCAATTCATTCTATAAGCA	0.493000											OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000312492.2	1	1	hg19	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845311	0.51164	.	.	ENSG00000172789	ENST00000312492	D	0.91068	-2.78	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000094	D	0.88872	0.6555	M	0.76727	2.345	0.80722	D	1	P	0.47409	0.895	B	0.38056	0.264	D	0.88733	0.3238	10	0.36615	T	0.2	.	14.3258	0.66518	0.0:0.0:0.0:1.0	.	9	Q00444	HXC5_HUMAN	V	9	ENSP00000309336:F9V	ENSP00000309336:F9V	F	+	1	0	HOXC5	52713198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.182000	0.58310	2.209000	0.71365	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1	1	0	0	19	333	0	76	0	3.342086e-03	0	2	0	76	2		0	0	0	0	0	2	1	9.999892e-01	19	324	0	75	2								-19.973740	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.650000	0.400000	1.000000	0.640000	0.681120	0.650000	0	5.100000e-01	8.500000e-01
HOXC4	3221	broad.mit.edu	37	12	54448914	54448914	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54448914G>A	ENST00000430889.2	+	2	766	c.720G>A	c.(718-720)ccG>ccA	p.P240P	HOXC4_ENST00000609810.1_Silent_p.P240P|HOXC4_ENST00000303406.4_Silent_p.P240P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4			13					CAGCTACCCCGGGTACTTCTG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000430889.2	1	1	hg19	CCDS8873.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1	1	0	0	27	103	0	19	0	5.266498e-01	0	8	0	19	2		0	0	0	0	0	2	1	1	27	99	0	18	2								-3.562221	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SMUG1	23583	broad.mit.edu	37	12	54575966	54575966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54575966G>A	ENST00000508394.2	-	3	789	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514685.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1			6					TGTGGGTTACGGGGAGAGGGA	0.642000								Base excision repair (BER), DNA glycosylases																0							SO:0001583	missense			ENST00000508394.2	1	1	hg19	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459475	0.43736	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977	T;T;T	0.56444	0.46;0.46;0.46	4.73	3.84	0.44239	Uracil-DNA glycosylase-like (3);	0.048032	0.85682	N	0.000000	T	0.68357	0.2992	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.68868	-0.5295	10	0.49607	T	0.09	.	7.3843	0.26874	0.0874:0.0:0.7468:0.1658	.	243	Q53HV7	SMUG1_HUMAN	C	243	ENSP00000338606:R243C;ENSP00000424191:R243C;ENSP00000384828:R243C	ENSP00000338606:R243C	R	-	1	0	SMUG1	52862233	1.000000	0.71417	0.362000	0.25862	0.853000	0.48598	4.942000	0.63547	1.121000	0.41925	-0.136000	0.14681	CGT		TCGA-IB-7651-01A-11D-2154-08	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	1	0	1	86	470	0	111	1	9.962283e-01	17	31	0	111	2		0	0	0	0	0	2	1	1	86	467	0	110	2								-2.403808	0	1	121400	3	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFE2	4778	broad.mit.edu	37	12	54686881	54686881	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54686881T>C	ENST00000540264.2	-	2	908	c.399A>G	c.(397-399)gcA>gcG	p.A133A	NFE2_ENST00000435572.2_Silent_p.A133A|NFE2_ENST00000553070.1_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Silent_p.A133A			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2			16					TAGGTGGCCCTGCTGGCAGCC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000540264.2	1	1	hg19	CCDS8876.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	1	0	1	126	611	0	140	0	0	0	1	0	140	2		0	0	0	0	0	2	1	1	123	598	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA5	3678	broad.mit.edu	37	12	54795226	54795226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54795226G>A	ENST00000293379.4	-	24	2685	c.2424C>T	c.(2422-2424)agC>agT	p.S808S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)			34					GATGCCAGTCGCTTACTGGGA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000293379.4	1	1	hg19	CCDS8880.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1	1	0	0	82	817	0	210	1	1	5	410	0	210	2		0	0	0	0	0	2	1	1	77	809	0	210	2								-19.924120	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.870000	1.000000	1.000000	0.986881	0.990000	1	9.700000e-01	1
ITGA5	3678	broad.mit.edu	37	12	54797065	54797065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54797065G>T	ENST00000293379.4	-	18	2081	c.1820C>A	c.(1819-1821)gCt>gAt	p.A607D	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)			34					GAAGTTGAGAGCGATGTGAAT	0.572000																								0							SO:0001583	missense			ENST00000293379.4	1	1	hg19	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047893	0.55110	.	.	ENSG00000161638	ENST00000293379	T	0.44482	0.92	5.17	4.25	0.50352	Integrin alpha-2 (1);	0.221093	0.44483	N	0.000444	T	0.44095	0.1277	L	0.58101	1.795	0.49915	D	0.999838	P	0.48350	0.909	P	0.48141	0.568	T	0.33369	-0.9871	10	0.40728	T	0.16	.	8.805	0.34932	0.0:0.1646:0.6651:0.1703	.	607	P08648	ITA5_HUMAN	D	607	ENSP00000293379:A607D	ENSP00000293379:A607D	A	-	2	0	ITGA5	53083332	0.982000	0.34865	1.000000	0.80357	0.860000	0.49131	2.325000	0.43840	1.247000	0.43917	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1	0	0	1	167	784	1	197	0	1	2	353	1	197	8		0	0	0	0	0	2	1	1	164	763	1	196	17								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA5	3678	broad.mit.edu	37	12	54802689	54802689	+	Silent	SNP	G	G	A	rs147213910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54802689G>A	ENST00000293379.4	-	5	894	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)			34					TGGTGAACTCGGCACTGAAGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000293379.4	1	1	hg19	CCDS8880.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1	1	0	1	62	223	0	65	1	1	2	242	0	65	2		0	0	0	0	0	2	1	1	63	214	0	63	2								-3.333163	1	1	121412	2	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCKAP1L	3071	broad.mit.edu	37	12	54905762	54905762	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54905762A>G	ENST00000293373.6	+	9	893	c.814A>G	c.(814-816)Aac>Gac	p.N272D	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like			80					TGGGTGCCTCAACTCCAATAG	0.483000																								0							SO:0001583	missense			ENST00000293373.6	1	1	hg19	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149071	0.57151	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	.	0.048494	0.85682	N	0.000000	T	0.44850	0.1313	L	0.45581	1.43	0.42139	D	0.991505	D	0.69078	0.997	D	0.80764	0.994	T	0.26052	-1.0114	10	0.12103	T	0.63	-15.1548	13.8042	0.63220	1.0:0.0:0.0:0.0	.	272	P55160	NCKPL_HUMAN	D	272;222	ENSP00000293373:N272D;ENSP00000445596:N222D	ENSP00000293373:N272D	N	+	1	0	NCKAP1L	53192029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.967000	0.63722	2.153000	0.67306	0.456000	0.33151	AAC		TCGA-IB-7651-01A-11D-2154-08	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	1	0	1	83	359	0	96	0	1	0	120	0	96	2		0	0	0	0	0	2	1	1	82	350	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCKAP1L	3071	broad.mit.edu	37	12	54920455	54920455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54920455G>A	ENST00000293373.6	+	21	2379	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	p.R767H(1)		80					AGAGTCATCCGCAACGCCCTC	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000293373.6	1	1	hg19	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992832	0.74703	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35789	1.29;1.29	4.99	4.99	0.66335	.	0.122415	0.53938	D	0.000041	T	0.47655	0.1457	L	0.40543	1.245	0.37591	D	0.920173	D	0.71674	0.998	P	0.59825	0.864	T	0.53180	-0.8475	10	0.56958	D	0.05	-14.0375	16.1445	0.81555	0.0:0.0:1.0:0.0	.	767	P55160	NCKPL_HUMAN	H	767;717	ENSP00000293373:R767H;ENSP00000445596:R717H	ENSP00000293373:R767H	R	+	2	0	NCKAP1L	53206722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	2.479000	0.83701	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	1	0	1	37	230	0	54	0	9.999975e-01	0	125	0	54	2		0	0	0	0	0	2	1	1	37	228	0	54	2								-3.321138	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999922	0.990000	1	9.900000e-01	1
PDE1B	5153	broad.mit.edu	37	12	54969384	54969384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54969384G>A	ENST00000243052.3	+	12	1671	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H|PDE1B_ENST00000538346.1_Missense_Mutation_p.R371H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent			31				Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTCTGTGACCGCACTTCCACT	0.572000																								0							SO:0001583	missense			ENST00000243052.3	1	1	hg19	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022590	0.93462	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.84873	-1.91;-1.91;-1.91	4.85	4.85	0.62838	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000001	D	0.94791	0.8318	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96332	0.9244	10	0.87932	D	0	.	15.8505	0.78927	0.0:0.0:1.0:0.0	.	392;412	Q01064-2;Q01064	.;PDE1B_HUMAN	H	412;371;392	ENSP00000243052:R412H;ENSP00000442559:R371H;ENSP00000448519:R392H	ENSP00000243052:R412H	R	+	2	0	PDE1B	53255651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.699000	0.98703	2.402000	0.81655	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1	1	0	1	84	438	0	120	0	8.520230e-01	0	20	0	120	2		0	0	0	0	0	2	1	1	84	431	0	120	2								-3.148130	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LACRT	90070	broad.mit.edu	37	12	55028594	55028594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55028594G>T	ENST00000257867.4	-	1	85	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin			10					CCCTGCTACAGCTGCCAAGAA	0.527000																								0							SO:0001583	missense			ENST00000257867.4	1	1	hg19	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970247	0.18659	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	3.84	2.95	0.34219	.	0.000000	0.32488	N	0.006040	T	0.39253	0.1071	N	0.19112	0.55	0.19945	N	0.999946	D	0.89917	1.0	D	0.79108	0.992	T	0.06844	-1.0804	9	0.87932	D	0	.	7.4512	0.27240	0.118:0.0:0.882:0.0	.	11	Q9GZZ8	LACRT_HUMAN	D	11	.	ENSP00000257867:A11D	A	-	2	0	LACRT	53314861	0.078000	0.21339	0.548000	0.28192	0.021000	0.10359	0.255000	0.18333	1.219000	0.43474	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	1	0	1	63	322	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	59	315	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR9K2	441639	broad.mit.edu	37	12	55524378	55524378	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55524378C>T	ENST00000305377.5	+	1	914	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2			31					TGTGAGTGTGCTGTATGGTGC	0.438000																								0							SO:0001819	synonymous_variant			ENST00000305377.5	1	1	hg19	CCDS31814.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1	0	0	0	134	523	1	143		0	0	0	1	143	2		0	0	0	0	0	2	1	1	131	515	1	143	16								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6C74	254783	broad.mit.edu	37	12	55641685	55641685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55641685T>G	ENST00000343870.4	+	1	704	c.614T>G	c.(613-615)cTc>cGc	p.L205R		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74			12					ATTTTGACGCTCCTGGTTACA	0.368000																								0							SO:0001583	missense			ENST00000343870.4	1	1	hg19	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	t	11.76	1.734754	0.30774	.	.	ENSG00000197706	ENST00000343870	T	0.39056	1.1	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000303	T	0.69860	0.3158	H	0.94385	3.53	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.69015	-0.5257	10	0.87932	D	0	.	7.3485	0.26676	0.0:0.0766:0.1464:0.777	.	205	A6NCV1	O6C74_HUMAN	R	205	ENSP00000342836:L205R	ENSP00000342836:L205R	L	+	2	0	OR6C74	53927952	0.003000	0.15002	0.094000	0.20943	0.230000	0.25150	1.468000	0.35332	2.196000	0.70406	0.451000	0.29950	CTC		TCGA-IB-7651-01A-11D-2154-08	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1	1	0	0	25	390	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	9.999998e-01	25	375	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.720000	0.480000	1.000000	1.000000	0.745341	0.720000	0	5.900000e-01	9.100000e-01
OR6C1	390321	broad.mit.edu	37	12	55714983	55714983	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55714983T>G	ENST00000379668.2	+	1	638	c.600T>G	c.(598-600)tgT>tgG	p.C200W		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1			25					GATTTTCTTGTGCTGCGTTTA	0.348000																								0							SO:0001583	missense			ENST00000379668.2	1	1	hg19	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	t	7.293	0.611552	0.14066	.	.	ENSG00000205330	ENST00000379668	T	0.00099	8.73	4.77	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	0.546234	0.18482	N	0.139892	T	0.00144	0.0004	L	0.49778	1.585	0.32672	N	0.516688	B	0.02656	0.0	B	0.12837	0.008	T	0.23797	-1.0178	10	0.54805	T	0.06	.	7.4666	0.27324	0.0:0.1527:0.5104:0.3369	.	200	Q96RD1	OR6C1_HUMAN	W	200	ENSP00000368990:C200W	ENSP00000368990:C200W	C	+	3	2	OR6C1	54001250	0.000000	0.05858	0.233000	0.24025	0.710000	0.40934	-2.652000	0.00856	-0.226000	0.09899	0.460000	0.39030	TGT		TCGA-IB-7651-01A-11D-2154-08	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	0	0	1	44	214	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	43	212	0	56	2								-19.999850	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6C3	254786	broad.mit.edu	37	12	55725792	55725792	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55725792T>C	ENST00000379667.1	+	1	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3			11					TTCTTTATCTTCATGGGGGTG	0.418000																								0							SO:0001583	missense			ENST00000379667.1	1	1	hg19	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	T	6.994	0.553566	0.13374	.	.	ENSG00000205329	ENST00000379667	T	0.00330	8.08	5.18	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.131035	0.34802	N	0.003677	T	0.00144	0.0004	N	0.13272	0.32	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.40997	-0.9533	10	0.48119	T	0.1	.	3.5933	0.07997	0.2892:0.1431:0.0:0.5677	.	103	Q9NZP0	OR6C3_HUMAN	S	103	ENSP00000368989:F103S	ENSP00000368989:F103S	F	+	2	0	OR6C3	54012059	0.000000	0.05858	0.007000	0.13788	0.448000	0.32197	0.456000	0.21859	0.458000	0.26988	0.478000	0.44815	TTC		TCGA-IB-7651-01A-11D-2154-08	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1	1	0	1	141	598	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	141	585	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6C70	390327	broad.mit.edu	37	12	55863420	55863420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55863420G>T	ENST00000327335.4	-	1	502	c.503C>A	c.(502-504)gCt>gAt	p.A168D	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70			18					GATATTTGAAGCACAGAAATC	0.353000																								0							SO:0001583	missense			ENST00000327335.4	1	1	hg19	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.967877	0.00457	.	.	ENSG00000184954	ENST00000327335	T	0.37235	1.21	4.06	-0.495	0.12030	GPCR, rhodopsin-like superfamily (1);	0.603436	0.14712	N	0.302876	T	0.20129	0.0484	N	0.17278	0.47	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.35968	-0.9767	10	0.02654	T	1	.	8.8381	0.35123	0.0:0.2561:0.4479:0.296	.	168	A6NIJ9	O6C70_HUMAN	D	168	ENSP00000329153:A168D	ENSP00000329153:A168D	A	-	2	0	OR6C70	54149687	0.000000	0.05858	0.095000	0.20976	0.265000	0.26407	0.110000	0.15437	-0.200000	0.10300	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1	1	0	1	75	370	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	74	361	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10P1	121130	broad.mit.edu	37	12	56031342	56031342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56031342C>A	ENST00000309675.2	+	1	699	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1			26					CATCCGCATCCTGGGTGCCAT	0.552000																								0							SO:0001583	missense			ENST00000309675.2	1	1	hg19	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	C	8.657	0.899701	0.17686	.	.	ENSG00000175398	ENST00000309675	T	0.00237	8.47	4.44	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	N	0.002009	T	0.00468	0.0015	M	0.86097	2.795	0.25970	N	0.982518	D	0.76494	0.999	D	0.75484	0.986	T	0.44205	-0.9343	10	0.72032	D	0.01	.	3.2804	0.06913	0.1783:0.5524:0.173:0.0963	.	223	Q8NGE3	O10P1_HUMAN	M	223	ENSP00000308082:L223M	ENSP00000308082:L223M	L	+	1	2	OR10P1	54317609	0.000000	0.05858	0.019000	0.16419	0.002000	0.02628	-1.227000	0.02950	0.598000	0.29829	-0.304000	0.09214	CTG		TCGA-IB-7651-01A-11D-2154-08	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1	1	0	1	135	576	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	132	562	0	126	2								-3.450015	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
METTL7B	196410	broad.mit.edu	37	12	56075767	56075767	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56075767C>A	ENST00000394252.3	+	1	438	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B			6					CCTACTGGAGCTGGGCTGCGG	0.572000																								0							SO:0001583	missense			ENST00000394252.3	1	1	hg19	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567759	0.65651	.	.	ENSG00000170439	ENST00000394252	T	0.12672	2.66	4.96	2.08	0.27032	Methyltransferase type 11 (1);	0.300406	0.32328	N	0.006246	T	0.33904	0.0879	M	0.82193	2.58	0.37317	D	0.909383	D	0.57899	0.981	D	0.65573	0.936	T	0.24870	-1.0148	10	0.87932	D	0	-31.231	8.4467	0.32847	0.0:0.6244:0.2933:0.0824	.	77	Q6UX53	MET7B_HUMAN	M	77	ENSP00000377796:L77M	ENSP00000377796:L77M	L	+	1	2	METTL7B	54362034	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.480000	0.35464	0.257000	0.21650	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	1	0	1	35	141	0	38	1	1	54	70	0	38	2		0	0	0	0	0	2	1	1	35	139	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA7	3679	broad.mit.edu	37	12	56091492	56091492	+	Missense_Mutation	SNP	C	C	T	rs61733964	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56091492C>T	ENST00000555728.1	-	10	1556	c.1528G>A	c.(1528-1530)Gca>Aca	p.A510T	ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000257880.7_Missense_Mutation_p.A510T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A466T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T			Q13683	ITA7_HUMAN	integrin, alpha 7			50					AAGAGCACTGCGGTGTCAGCC	0.597000																								0							SO:0001583	missense			ENST00000555728.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.06	3.016975	0.54576	4.54E-4	0.0	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.28	4.28	0.50868	.	0.283792	0.28877	N	0.013856	T	0.62732	0.2452	L	0.39566	1.225	0.19300	N	0.999976	P;P;B;B	0.36354	0.464;0.549;0.452;0.359	B;B;B;B	0.35073	0.095;0.195;0.146;0.054	T	0.63323	-0.6663	10	0.72032	D	0.01	.	14.6156	0.68547	0.0:1.0:0.0:0.0	.	373;510;470;529	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	470;466;466;373;510;470;466;510;510	ENSP00000452120:A470T;ENSP00000257879:A466T;ENSP00000343009:A466T;ENSP00000393844:A373T;ENSP00000257880:A510T;ENSP00000377777:A470T;ENSP00000377776:A466T;ENSP00000452387:A510T	ENSP00000257879:A466T	A	-	1	0	ITGA7	54377759	0.638000	0.27225	0.014000	0.15608	0.061000	0.15899	3.031000	0.49728	2.130000	0.65690	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	0	0	0	14	422	0	71	0	2.487722e-01	0	28	0	71	2		0	0	0	0	0	2	1	9.997115e-01	14	411	0	71	2								-3.096763	1	1	121412	3	42	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.390000	0.220000	1.000000	0.380000	0.439802	0.390000	0	2.900000e-01	5.300000e-01
ITGA7	3679	broad.mit.edu	37	12	56092293	56092293	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092293A>G	ENST00000555728.1	-	8	1226	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H	ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000257880.7_Missense_Mutation_p.Y400H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H			Q13683	ITA7_HUMAN	integrin, alpha 7			50					AAGTACACATACACAGCACCC	0.607000																								0							SO:0001583	missense			ENST00000555728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.6	4.171337	0.78452	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000003	D	0.85111	0.5622	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.87713	0.2568	10	0.87932	D	0	.	12.8385	0.57788	1.0:0.0:0.0:0.0	.	263;400;360;419	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	360;356;356;263;400;360;356;400;400	ENSP00000452120:Y360H;ENSP00000257879:Y356H;ENSP00000343009:Y356H;ENSP00000393844:Y263H;ENSP00000257880:Y400H;ENSP00000377777:Y360H;ENSP00000377776:Y356H;ENSP00000452387:Y400H	ENSP00000257879:Y356H	Y	-	1	0	ITGA7	54378560	1.000000	0.71417	0.999000	0.59377	0.702000	0.40608	9.239000	0.95389	1.988000	0.58038	0.459000	0.35465	TAT		TCGA-IB-7651-01A-11D-2154-08	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	1	0	1	83	383	0	106	0	9.204680e-01	0	22	0	106	2		0	0	0	0	0	2	1	1	82	375	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA7	3679	broad.mit.edu	37	12	56092537	56092537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092537C>T	ENST00000555728.1	-	7	1115	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000257880.7_Missense_Mutation_p.G363S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G319S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S			Q13683	ITA7_HUMAN	integrin, alpha 7			50					TAGCCAAAGCCGGAGGTCAGG	0.647000																								0							SO:0001583	missense			ENST00000555728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.925	0.540358	0.13250	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.46	4.46	0.54185	.	0.338675	0.28688	N	0.014478	T	0.31167	0.0788	N	0.01235	-0.94	0.42502	D	0.992937	B;B;B;P	0.36990	0.07;0.019;0.033;0.577	B;B;B;B	0.24006	0.011;0.008;0.011;0.05	T	0.51204	-0.8735	10	0.07030	T	0.85	.	10.1055	0.42530	0.2:0.8:0.0:0.0	.	226;363;323;382	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	323;319;319;226;363;323;319;363;363	ENSP00000452120:G323S;ENSP00000257879:G319S;ENSP00000343009:G319S;ENSP00000393844:G226S;ENSP00000257880:G363S;ENSP00000377777:G323S;ENSP00000377776:G319S;ENSP00000452387:G363S	ENSP00000257879:G319S	G	-	1	0	ITGA7	54378804	0.710000	0.27896	0.995000	0.50966	0.785000	0.44390	1.497000	0.35649	2.489000	0.83994	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	1	0	1	51	282	0	78	1	8.685398e-01	4	18	0	78	2		0	0	0	0	0	2	1	1	50	276	0	75	2								-20.000000	1	1	121410	17	44	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ITGA7	3679	broad.mit.edu	37	12	56094883	56094883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56094883C>T	ENST00000555728.1	-	4	498	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R157Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q			Q13683	ITA7_HUMAN	integrin, alpha 7			50					AATCATATCCCGCGTCTCCAG	0.602000																								0							SO:0001583	missense			ENST00000555728.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.88	2.666291	0.47677	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.49720	0.95;0.95;0.95;0.77;0.95;0.95;0.95;0.95	4.47	3.57	0.40892	.	0.076639	0.49916	D	0.000122	T	0.61776	0.2374	M	0.64080	1.96	0.43885	D	0.996502	P;P;D;D	0.89917	0.758;0.906;0.999;1.0	P;B;D;P	0.71656	0.459;0.372;0.974;0.883	T	0.61013	-0.7148	10	0.39692	T	0.17	.	11.8786	0.52562	0.1759:0.8241:0.0:0.0	.	60;157;157;220	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	157;157;157;60;157;157;157;157;157	ENSP00000452120:R157Q;ENSP00000257879:R157Q;ENSP00000343009:R157Q;ENSP00000393844:R60Q;ENSP00000257880:R157Q;ENSP00000377777:R157Q;ENSP00000377776:R157Q;ENSP00000452387:R157Q	ENSP00000257879:R157Q	R	-	2	0	ITGA7	54381150	1.000000	0.71417	0.628000	0.29241	0.001000	0.01503	7.604000	0.82830	1.235000	0.43724	-0.324000	0.08512	CGG		TCGA-IB-7651-01A-11D-2154-08	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	0	0	0	9	376	0	86	0	1.483012e-01	0	26	0	86	2		0	0	0	0	0	2	1	9.939264e-01	9	370	0	85	2								-2.436771	0	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.290000	0.140000	1.000000	0.270000	0.347227	0.290000	0	2.000000e-01	4.300000e-01
CD63	967	broad.mit.edu	37	12	56121030	56121030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56121030G>A	ENST00000549117.1	-	3	596	c.160C>T	c.(160-162)Cca>Tca	p.P54S	CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000548160.1_5'Flank|CD63_ENST00000552692.1_Missense_Mutation_p.P54S|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000257857.4_Missense_Mutation_p.P54S|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552067.1_5'Flank|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000548898.1_5'Flank	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule			7					ATGACCACTGGCAACAGAGAG	0.577000													Pancreas(123;1459 1747 6717 18841 37380)											0							SO:0001583	missense			ENST00000549117.1	1	1	hg19	CCDS8890.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703758	0.88924	.	.	ENSG00000135404	ENST00000420846;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000552164;ENST00000551173;ENST00000546457	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.35	4.46	0.54185	.	0.054955	0.64402	N	0.000001	D	0.86510	0.5950	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;0.975;0.995	D;P;D	0.97110	1.0;0.893;0.951	D	0.87355	0.2340	10	0.56958	D	0.05	.	12.4812	0.55844	0.0829:0.0:0.9171:0.0	.	31;54;54	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	S	54;54;54;54;31;54;54;54	ENSP00000393502:P54S;ENSP00000449337:P54S;ENSP00000447730:P54S;ENSP00000257857:P54S;ENSP00000446807:P31S;ENSP00000449281:P54S;ENSP00000446752:P54S;ENSP00000450191:P54S	ENSP00000257857:P54S	P	-	1	0	CD63	54407297	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	4.977000	0.63792	1.593000	0.50029	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1	1	0	1	150	607	0	158	1	1	1294	5547	0	158	2		0	0	0	0	0	2	1	1	147	593	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGKA	1606	broad.mit.edu	37	12	56333198	56333198	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56333198G>T	ENST00000331886.5	+	9	1048		c.e9-1		DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000394147.1_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa			25				Vitamin E(DB00163)	TGCCTTCCTAGACTCTGAAGG	0.542000																								0							SO:0001630	splice_region_variant			ENST00000331886.5	1	1	hg19	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795930	0.31777	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8868	0.88858	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKA	54619465	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.343000	0.79319	2.838000	0.97847	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1	0	0	0	28	738	0	178	0	0	0	1	0	178	2		0	0	0	0	0	2	1	1	28	724	0	178	2								-3.621910	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.440000	0.290000	1.000000	0.440000	0.480262	0.440000	0	3.600000e-01	5.500000e-01
SUOX	6821	broad.mit.edu	37	12	56398461	56398461	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56398461A>G	ENST00000394109.3	+	3	2012	c.1288A>G	c.(1288-1290)Aca>Gca	p.T430A	SUOX_ENST00000266971.3_Missense_Mutation_p.T430A|IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000548274.1_Missense_Mutation_p.T430A|SUOX_ENST00000356124.4_Missense_Mutation_p.T430A|SUOX_ENST00000394115.2_Missense_Mutation_p.T430A			P51687	SUOX_HUMAN	sulfite oxidase			15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		GTCGGCCATCACAGAGCCCCG	0.557000																								0							SO:0001583	missense			ENST00000394109.3	1	1	hg19	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134990	0.56828	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.96	4.96	0.65561	Immunoglobulin E-set (1);Moybdenum cofactor oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	L	0.42686	1.345	0.58432	D	0.999992	B	0.23249	0.082	B	0.27887	0.084	T	0.71045	-0.4706	10	0.15499	T	0.54	-12.6074	14.053	0.64749	1.0:0.0:0.0:0.0	.	430	P51687	SUOX_HUMAN	A	430	ENSP00000348440:T430A;ENSP00000266971:T430A;ENSP00000377674:T430A;ENSP00000450245:T430A;ENSP00000377668:T430A	ENSP00000266971:T430A	T	+	1	0	SUOX	54684728	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.278000	0.89899	2.221000	0.72209	0.383000	0.25322	ACA		TCGA-IB-7651-01A-11D-2154-08	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	0	0	0	14	310	0	49	1	9.521336e-01	10	105	0	49	2		0	0	0	0	0	2	1	9.997071e-01	13	300	0	49	2								-15.547140	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.530000	0.300000	1.000000	0.510000	0.566792	0.530000	0	4.000000e-01	7.100000e-01
IKZF4	64375	broad.mit.edu	37	12	56428846	56428846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56428846G>T	ENST00000262032.5	+	12	1856	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)			8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		CTACGCCAAAGAGGACCCCAA	0.662000																								0							SO:0001587	stop_gained			ENST00000262032.5	0	1	hg19	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349796	0.82132	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	.	.	.	4.08	4.08	0.47627	.	0.000000	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.8609	15.5539	0.76177	0.0:0.0:1.0:0.0	.	.	.	.	X	497;395;497;452	.	ENSP00000262032:E497X	E	+	1	0	IKZF4	54715113	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.374000	0.79633	2.268000	0.75426	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	1	0	0	74	287	0	74	1	9.064057e-01	3	15	0	74	2		0	0	0	0	0	2	1	1	74	281	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB3	2065	broad.mit.edu	37	12	56489582	56489582	+	Missense_Mutation	SNP	C	C	T	rs56387488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56489582C>T	ENST00000267101.3	+	17	2487	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3			8			OV - Ovarian serous cystadenocarcinoma(18;0.112)		ATACTTGGAACGGGGTGAGGT	0.443000																								0							SO:0001583	missense			ENST00000267101.3	1	1	hg19	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804868	0.70682	2.27E-4	0.0	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.78595	-1.19;-1.09;-1.18	4.86	3.96	0.45880	.	0.000000	0.56097	D	0.000031	T	0.80116	0.4564	L	0.29908	0.895	0.44579	D	0.997543	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.965	T	0.81385	-0.0957	10	0.87932	D	0	.	10.8559	0.46798	0.4657:0.5343:0.0:0.0	rs56387488	624;683	P21860-4;P21860	.;ERBB3_HUMAN	W	683;40;624	ENSP00000267101:R683W;ENSP00000399178:R40W;ENSP00000408340:R624W	ENSP00000267101:R683W	R	+	1	2	ERBB3	54775849	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.540000	0.23191	1.258000	0.44101	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3	0	0	1	93	476	1	96	1	9.999999e-01	130	116	1	96	11		0	0	0	0	0	2	1	1	93	463	1	95	19								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB3	2065	broad.mit.edu	37	12	56492614	56492614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56492614G>T	ENST00000267101.3	+	23	3204	c.2764G>T	c.(2764-2766)Gac>Tac	p.D922Y	ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y|ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3			8			OV - Ovarian serous cystadenocarcinoma(18;0.112)		TGAAGTACCAGACCTGCTAGA	0.537000																								0							SO:0001583	missense			ENST00000267101.3	1	1	hg19	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323234	0.81580	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88544	0.6465	L	0.41824	1.3	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.989;0.983;0.992	D	0.88489	0.3074	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	863;42;922	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	Y	922;279;863;45;163;42	ENSP00000267101:D922Y;ENSP00000399178:D279Y;ENSP00000408340:D863Y;ENSP00000449129:D163Y;ENSP00000448729:D42Y	ENSP00000267101:D922Y	D	+	1	0	ERBB3	54778881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.698000	0.54771	2.941000	0.99782	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3	1	0	1	85	390	0	101	1	1	107	153	0	101	2		0	0	0	0	0	2	1	1	82	371	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PA2G4	5036	broad.mit.edu	37	12	56505030	56505030	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56505030C>A	ENST00000303305.6	+	11	1421	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa			12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)		TGCGGATAACCAGTGGTCCCT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000303305.6	1	1	hg19	CCDS8902.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	1	0	1	71	332	0	103	1	1	202	467	0	103	2		0	0	0	0	0	2	1	1	69	323	0	98	2								-3.132622	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H10	84872	broad.mit.edu	37	12	56514521	56514521	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56514521C>T	ENST00000257940.2	+	3	451	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10			11			OV - Ovarian serous cystadenocarcinoma(18;0.12)		TTGCCGATATCGCCACCCAGA	0.567000																								0							SO:0001583	missense			ENST00000257940.2	0	1	hg19	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181558	0.57800	.	.	ENSG00000135482	ENST00000257940;ENST00000552345;ENST00000546903	T;T	0.41400	1.0;1.0	4.82	4.82	0.62117	Zinc finger, CCCH-type (2);	0.147583	0.39985	N	0.001211	T	0.46698	0.1406	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	P	0.54706	0.759	T	0.43605	-0.9381	10	0.66056	D	0.02	-5.2356	12.3108	0.54927	0.1695:0.8305:0.0:0.0	.	59	Q96K80	ZC3HA_HUMAN	C	59	ENSP00000450122:R59C;ENSP00000448881:R59C	ENSP00000257940:R59C	R	+	1	0	ZC3H10	54800788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.293000	0.51779	2.676000	0.91093	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	0	0	0	12	493	0	91	0	2.911869e-01	0	42	0	91	2		0	0	0	0	0	2	1	9.990450e-01	12	486	0	90	2								-3.045269	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.290000	0.150000	1.000000	0.280000	0.345871	0.290000	0	2.100000e-01	4.100000e-01
ZC3H10	84872	broad.mit.edu	37	12	56515509	56515509	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56515509C>A	ENST00000257940.2	+	3	1439	c.1163C>A	c.(1162-1164)gCt>gAt	p.A388D	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10			11			OV - Ovarian serous cystadenocarcinoma(18;0.12)		GCTCCTGTGGCTGTATCTGTG	0.592000																								0							SO:0001583	missense			ENST00000257940.2	1	1	hg19	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986954	0.53934	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.63	4.75	0.60458	.	0.131035	0.49305	D	0.000153	T	0.38665	0.1049	N	0.19112	0.55	0.80722	D	1	P	0.44627	0.839	B	0.37346	0.247	T	0.44952	-0.9294	9	0.72032	D	0.01	-10.0065	16.0428	0.80695	0.0:0.8651:0.1349:0.0	.	388	Q96K80	ZC3HA_HUMAN	D	388	.	ENSP00000257940:A388D	A	+	2	0	ZC3H10	54801776	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.510000	0.67018	1.540000	0.49301	-0.127000	0.14921	GCT		TCGA-IB-7651-01A-11D-2154-08	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	1	0	1	32	194	0	71	1	9.575910e-01	8	26	0	71	2		0	0	0	0	0	2	1	1	30	188	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999880	0.990000	1	9.900000e-01	1
ESYT1	23344	broad.mit.edu	37	12	56536096	56536096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56536096G>A	ENST00000394048.5	+	25	2884	c.2620G>A	c.(2620-2622)Ggc>Agc	p.G874S	ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S|ESYT1_ENST00000541590.1_Missense_Mutation_p.G884S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1			28					TGGCGTGCTGGGCTCATTATC	0.562000																								0							SO:0001583	missense			ENST00000394048.5	1	1	hg19	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813855	0.70912	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.94862	-3.54;-3.54;-3.54	4.55	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.84773	2.715	0.80722	D	1	D;P	0.61080	0.989;0.714	P;P	0.57960	0.83;0.669	D	0.97190	0.9857	10	0.87932	D	0	-22.2159	15.2067	0.73183	0.0:0.0:1.0:0.0	.	884;874	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	S	874;828;884;884	ENSP00000377612:G874S;ENSP00000267113:G884S;ENSP00000445952:G884S	ENSP00000267113:G884S	G	+	1	0	ESYT1	54822363	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	5.961000	0.70356	2.537000	0.85549	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	0	0	0	30	720	0	144	1	9.998341e-01	16	300	0	144	2		0	0	0	0	0	2	1	1	30	699	0	141	2								-4.113820	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.480000	0.320000	1.000000	0.470000	0.518346	0.480000	0	3.900000e-01	6.000000e-01
SMARCC2	6601	broad.mit.edu	37	12	56558134	56558134	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558134A>G	ENST00000267064.4	-	27	3607	c.3521T>C	c.(3520-3522)gTg>gCg	p.V1174A	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1112A|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2			41			OV - Ovarian serous cystadenocarcinoma(18;0.123)		AACAGCTGCCACAATGGCAGG	0.657000																								0							SO:0001583	missense			ENST00000267064.4	1	1	hg19	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294410	0.60086	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.56941	1.2;0.43;0.44	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.55242	0.1908	N	0.14661	0.345	0.32803	D	0.500392	P;P;P	0.52577	0.954;0.924;0.924	D;P;P	0.65140	0.932;0.857;0.857	T	0.68217	-0.5467	10	0.87932	D	0	-14.2644	14.4903	0.67647	1.0:0.0:0.0:0.0	.	1112;1116;1174	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	A	1112;1205;1174	ENSP00000377591:V1112A;ENSP00000449396:V1205A;ENSP00000267064:V1174A	ENSP00000267064:V1174A	V	-	2	0	SMARCC2	54844401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.239000	0.58694	2.132000	0.65825	0.460000	0.39030	GTG		TCGA-IB-7651-01A-11D-2154-08	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	1	0	1	110	392	0	75	1	1	39	77	0	75	2		0	0	0	0	0	2	1	1	108	379	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCC2	6601	broad.mit.edu	37	12	56558242	56558242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558242G>A	ENST00000267064.4	-	27	3499	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S1169F|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2			41			OV - Ovarian serous cystadenocarcinoma(18;0.123)		GTTCGCCATGGACACAGGCAG	0.637000																								0							SO:0001583	missense			ENST00000267064.4	1	1	hg19	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197876	0.58126	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.47528	0.84;0.84	5.28	5.28	0.74379	.	0.000000	0.46758	D	0.000278	T	0.47820	0.1466	N	0.08118	0	0.36275	D	0.85539	D	0.55605	0.972	D	0.69142	0.962	T	0.55127	-0.8189	9	.	.	.	-11.0486	16.7715	0.85538	0.0:0.0:1.0:0.0	.	1138	Q8TAQ2	SMRC2_HUMAN	F	1169;1138	ENSP00000449396:S1169F;ENSP00000267064:S1138F	.	S	-	2	0	SMARCC2	54844509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.109000	0.50345	2.639000	0.89480	0.563000	0.77884	TCC		TCGA-IB-7651-01A-11D-2154-08	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	1	0	1	128	515	0	101	1	1	31	101	0	101	2		0	0	0	0	0	2	1	1	124	496	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCC2	6601	broad.mit.edu	37	12	56565170	56565170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56565170C>A	ENST00000267064.4	-	21	2225	c.2139G>T	c.(2137-2139)gaG>gaT	p.E713D	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E744D|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2			41			OV - Ovarian serous cystadenocarcinoma(18;0.123)		GAACATGGGCCTCCACCAAGG	0.552000																								0							SO:0001583	missense			ENST00000267064.4	1	1	hg19	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855436	0.51376	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.48522	1.01;0.81;0.84;0.83	5.3	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.31294	0.92	0.45129	D	0.99814	D;D;D;D;D	0.61697	0.984;0.99;0.984;0.984;0.99	D;D;D;D;D	0.73380	0.956;0.98;0.956;0.956;0.98	T	0.40831	-0.9542	10	0.12766	T	0.61	-20.1129	6.9306	0.24439	0.0:0.6437:0.0:0.3563	.	633;744;748;713;744	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	D	744;744;744;713	ENSP00000377591:E744D;ENSP00000449396:E744D;ENSP00000302919:E744D;ENSP00000267064:E713D	ENSP00000267064:E713D	E	-	3	2	SMARCC2	54851437	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	0.250000	0.18235	0.729000	0.32403	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	1	0	1	78	305	0	59	1	1	56	142	0	59	2		0	0	0	0	0	2	1	1	77	297	0	58	2								-3.609694	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD52	283373	broad.mit.edu	37	12	56639194	56639194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56639194C>T	ENST00000267116.7	-	21	2492	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52			29					GGCGAGTATCCGCTGTAATCC	0.617000																								0							SO:0001583	missense			ENST00000267116.7	1	1	hg19	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230425	0.79688	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.27890	1.64	4.07	4.07	0.47477	Ankyrin repeat-containing domain (4);	0.330506	0.28182	N	0.016299	T	0.54078	0.1836	M	0.72118	2.19	0.58432	D	0.999992	D	0.71674	0.998	D	0.72625	0.978	T	0.60449	-0.7261	10	0.87932	D	0	.	15.5589	0.76223	0.0:1.0:0.0:0.0	.	791	Q8NB46	ANR52_HUMAN	R	791	ENSP00000267116:G791R	ENSP00000267116:G791R	G	-	1	0	ANKRD52	54925461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.022000	0.70839	2.291000	0.77112	0.491000	0.48974	GGA		TCGA-IB-7651-01A-11D-2154-08	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1	32	112	0	16	1	9.999221e-01	14	42	0	16	2		0	0	0	0	0	2	1	1	32	111	0	16	2								-20.000000	1	1	121002	1	27	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD52	283373	broad.mit.edu	37	12	56641840	56641840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56641840G>A	ENST00000267116.7	-	18	2066	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52			29					TTGCGCTTGCGCTCCTTGATG	0.642000																								0							SO:0001583	missense			ENST00000267116.7	1	1	hg19	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147421	0.57151	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.16196	2.36	4.42	4.42	0.53409	Ankyrin repeat-containing domain (2);	0.175676	0.47455	D	0.000236	T	0.11793	0.0287	N	0.17474	0.49	0.51012	D	0.999909	D	0.54397	0.966	B	0.42882	0.401	T	0.03148	-1.1067	10	0.52906	T	0.07	.	12.0765	0.53647	0.0:0.0:0.8272:0.1728	.	649	Q8NB46	ANR52_HUMAN	C	649	ENSP00000267116:R649C	ENSP00000267116:R649C	R	-	1	0	ANKRD52	54928107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.148000	0.42235	2.474000	0.83562	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	0	35	141	0	32	1	9.997739e-01	22	34	0	32	2		0	0	0	0	0	2	1	1	34	138	0	31	2								-20.000000	1	1	121000	1	31	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD52	283373	broad.mit.edu	37	12	56647086	56647086	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647086G>A	ENST00000267116.7	-	10	1207	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52			29					CGGTATCTGCGCCATTGGTCA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000267116.7	1	1	hg19	CCDS44920.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1	64	293	0	78	1	9.988805e-01	13	36	0	78	2		0	0	0	0	0	2	1	1	64	286	0	78	2								-20.000000	1	1	121058	1	28	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD52	283373	broad.mit.edu	37	12	56647941	56647941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647941G>A	ENST00000267116.7	-	8	937	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52			29					GTGGCGTGAAGCCCTTGTCAT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000267116.7	1	1	hg19	CCDS44920.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1	118	512	0	128	1	9.997786e-01	15	40	0	128	2		0	0	0	0	0	2	1	1	115	499	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD52	283373	broad.mit.edu	37	12	56651145	56651145	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56651145C>A	ENST00000267116.7	-	3	233	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52			29					CTCTCTTGGTCCTGGGAAGGC	0.587000																								0							SO:0001630	splice_region_variant			ENST00000267116.7	1	0	hg19	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399545	0.83120	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.19532	2.14	4.14	4.14	0.48551	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59910	-0.7365	10	0.66056	D	0.02	.	15.709	0.77609	0.0:1.0:0.0:0.0	.	38	Q8NB46	ANR52_HUMAN	Y	38	ENSP00000267116:D38Y	ENSP00000267116:D38Y	D	-	1	0	ANKRD52	54937412	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.507000	0.81676	2.304000	0.77564	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	1	0	1	8	42	0	15	1	9.245657e-01	2	25	0	15	2		0	0	0	0	0	2	1	9.914174e-01	8	42	0	15	2								-15.937430	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.860000	1.000000	1.000000	0.992185	0.990000	1	9.900000e-01	1
PAN2	9924	broad.mit.edu	37	12	56722398	56722398	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56722398C>A	ENST00000425394.2	-	3	686	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000257931.5_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit			41				Vitamin A(DB00162)	CGCTCCAAGGCTGGGCCAAAA	0.512000																								0							SO:0001583	missense			ENST00000425394.2	1	1	hg19	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569189	0.28003	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.07	2.28	0.28536	WD40 repeat-like-containing domain (1);	0.360372	0.31612	N	0.007360	T	0.16128	0.0388	N	0.04090	-0.28	0.33195	D	0.551396	B;B;B	0.16802	0.019;0.019;0.011	B;B;B	0.15870	0.014;0.014;0.006	T	0.35649	-0.9780	10	0.02654	T	1	-4.814	9.5316	0.39198	0.0:0.766:0.0:0.234	.	104;104;104	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	S	104	ENSP00000401721:A104S;ENSP00000388231:A104S;ENSP00000257931:A104S;ENSP00000449861:A104S	ENSP00000257931:A104S	A	-	1	0	PAN2	55008665	0.789000	0.28775	0.937000	0.37676	0.963000	0.63663	1.324000	0.33712	0.419000	0.25927	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	1	0	1	45	199	0	55	1	9.614978e-01	8	18	0	55	2		0	0	0	0	0	2	1	1	45	195	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAT2	6773	broad.mit.edu	37	12	56750351	56750351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56750351G>A	ENST00000314128.4	-	2	28	c.5C>T	c.(4-6)gCg>gTg	p.A2V	STAT2_ENST00000418572.2_Missense_Mutation_p.A2V|STAT2_ENST00000557235.1_Missense_Mutation_p.A2V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa			31					TTCCCACTGCGCCATTTGGGC	0.458000																								0							SO:0001583	missense			ENST00000314128.4	1	1	hg19	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460637	0.84317	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.57752	0.38;0.38;0.38	4.85	4.85	0.62838	STAT transcription factor, protein interaction (4);	0.308797	0.34725	N	0.003727	T	0.73273	0.3566	M	0.80982	2.52	0.43714	D	0.996183	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.968	T	0.77029	-0.2739	10	0.87932	D	0	-15.0659	15.3582	0.74443	0.0:0.0:1.0:0.0	.	2;2;2	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	V	2	ENSP00000315768:A2V;ENSP00000450751:A2V;ENSP00000387354:A2V	ENSP00000315768:A2V	A	-	2	0	STAT2	55036618	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	6.130000	0.71663	2.700000	0.92200	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	1	0	1	55	253	0	63	1	1	28	168	0	63	2		0	0	0	0	0	2	1	1	55	250	0	61	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOF	319	broad.mit.edu	37	12	56755257	56755257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56755257G>A	ENST00000398189.3	-	2	810	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.L227F|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F			6					GCAGGTTTAAGTGCAGCACTG	0.527000																								0							SO:0001583	missense			ENST00000398189.3	1	1	hg19	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302675	0.81136	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.51325	0.71;0.71	5.34	5.34	0.76211	.	0.000000	0.34088	N	0.004277	T	0.66703	0.2816	M	0.62723	1.935	0.42344	D	0.992346	D	0.89917	1.0	D	0.87578	0.998	T	0.68938	-0.5277	10	0.72032	D	0.01	-8.6796	16.355	0.83232	0.0:0.0:1.0:0.0	.	245	Q13790	APOF_HUMAN	F	245;227	ENSP00000381250:L245F;ENSP00000440997:L227F	ENSP00000381250:L245F	L	-	1	0	APOF	55041524	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	3.441000	0.52893	2.677000	0.91161	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1	0	0	0	13	329	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	9.994512e-01	13	318	0	77	2								-3.954326	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.470000	0.250000	1.000000	0.440000	0.509183	0.470000	0	3.500000e-01	6.400000e-01
TIMELESS	8914	broad.mit.edu	37	12	56811983	56811983	+	Missense_Mutation	SNP	C	C	T	rs145585280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56811983C>T	ENST00000553532.1	-	27	3539	c.3389G>A	c.(3388-3390)cGa>cAa	p.R1130Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R1129Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q					timeless circadian clock			49					GGCTTGTGCTCGGTGCTCTTT	0.552000																								0							SO:0001583	missense			ENST00000553532.1	1	1	hg19	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238406	0.39598	2.27E-4	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11277	2.79;2.79;2.79	5.37	-5.08	0.02929	Timeless C-terminal (1);	0.863170	0.10042	N	0.723288	T	0.03651	0.0104	N	0.04043	-0.29	0.09310	N	1	B	0.19331	0.035	B	0.10450	0.005	T	0.47699	-0.9097	10	0.13108	T	0.6	-0.0036	8.9244	0.35632	0.0:0.3483:0.1039:0.5478	.	1130	Q9UNS1	TIM_HUMAN	Q	1129;1130;627	ENSP00000229201:R1129Q;ENSP00000450607:R1130Q;ENSP00000450848:R627Q	ENSP00000229201:R1130Q	R	-	2	0	TIMELESS	55098250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.142000	0.16096	-0.647000	0.05444	-0.126000	0.14955	CGA		TCGA-IB-7651-01A-11D-2154-08	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	1	0	1	211	1014	0	252	1	9.999136e-01	18	47	0	252	2		0	0	0	0	0	2	1	1	206	998	0	248	2								-3.321968	1	1	121412	9	47	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIMELESS	8914	broad.mit.edu	37	12	56827200	56827200	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56827200C>A	ENST00000553532.1	-	5	544	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	TIMELESS_ENST00000229201.4_Missense_Mutation_p.V132F|TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F					timeless circadian clock			49					TCACTGAGGACTCCAAAAGCC	0.512000																								0							SO:0001583	missense			ENST00000553532.1	1	1	hg19	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367273	0.82463	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.50001	0.76;0.76;0.76	5.42	4.53	0.55603	Timeless protein (1);	0.122383	0.56097	D	0.000036	T	0.69278	0.3093	M	0.83223	2.63	0.46701	D	0.999161	D;D	0.76494	0.999;0.999	D;D	0.71414	0.971;0.973	T	0.74996	-0.3473	10	0.87932	D	0	-19.0421	13.3854	0.60793	0.0:0.9229:0.0:0.0771	.	132;132	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	F	132	ENSP00000229201:V132F;ENSP00000450607:V132F;ENSP00000450848:V132F	ENSP00000229201:V132F	V	-	1	0	TIMELESS	55113467	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.872000	0.56085	1.439000	0.47511	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	1	0	1	59	254	0	82	1	9.851242e-01	12	19	0	82	2		0	0	0	0	0	2	1	1	60	249	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MIP	4284	broad.mit.edu	37	12	56848296	56848296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56848296C>T	ENST00000257979.4	-	1	130	c.102G>A	c.(100-102)tgG>tgA	p.W34*	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber			16					GTCCAGGAGCCCAGCGCAGTG	0.582000																								0							SO:0001587	stop_gained			ENST00000257979.4	0	1	hg19	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430354	0.96150	.	.	ENSG00000135517	ENST00000257979	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2643	18.1394	0.89634	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000257979:W34X	W	-	3	0	MIP	55134563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.657000	0.90304	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	1	0	1	73	392	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	73	383	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLS2	27165	broad.mit.edu	37	12	56866494	56866494	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56866494G>A	ENST00000311966.4	-	15	1769	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)			13				L-Glutamine(DB00130)	CTGAGACATCGCCACTATAGG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000311966.4	1	1	hg19	CCDS8921.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	1	0	1	95	359	0	84	1	9.504112e-01	6	15	0	84	2		0	0	0	0	0	2	1	1	94	353	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAZ2A	11176	broad.mit.edu	37	12	57003607	57003607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57003607G>A	ENST00000551812.1	-	10	2204	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	BAZ2A_ENST00000179765.5_Missense_Mutation_p.R639W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R669W	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A			31					CCTCGACCCCGTTTCACCTTG	0.522000																								0							SO:0001583	missense			ENST00000551812.1	1	1	hg19	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045845	0.75846	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.02	4.1	0.47936	AT hook, DNA-binding motif (1);	0.122860	0.53938	D	0.000052	T	0.32315	0.0825	L	0.48642	1.525	0.46927	D	0.99925	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.928	T	0.04481	-1.0948	10	0.87932	D	0	.	11.8124	0.52189	0.0:0.0:0.6821:0.3179	.	669;671	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	W	641;639;671;669	ENSP00000368754:R641W;ENSP00000179765:R639W;ENSP00000446880:R671W;ENSP00000447941:R669W	ENSP00000179765:R639W	R	-	1	2	BAZ2A	55289874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.210000	0.65214	1.423000	0.47198	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	1	0	0	7	150	0	28	1	9.617620e-01	9	119	0	28	2		0	0	0	0	0	2	1	9.800218e-01	7	148	0	28	2								-3.947739	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.560000	0.250000	1.000000	1.000000	0.602232	0.560000	0	3.800000e-01	8.400000e-01
BAZ2A	11176	broad.mit.edu	37	12	57005806	57005806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57005806C>T	ENST00000551812.1	-	6	1559	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	BAZ2A_ENST00000179765.5_Missense_Mutation_p.A424T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T|BAZ2A_ENST00000549884.1_Missense_Mutation_p.A454T	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	p.A456T(2)|p.A492T(1)		31					GTAGAAGCTGCGGGACAAACT	0.562000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000551812.1	1	1	hg19	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	7.414	0.635326	0.14322	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.85	2.97	0.34412	.	0.421480	0.19413	N	0.114887	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	P;B	0.34837	0.472;0.185	B;B	0.21151	0.033;0.019	T	0.11275	-1.0594	10	0.15066	T	0.55	.	5.0732	0.14617	0.2041:0.6891:0.0:0.1068	.	454;456	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	T	426;424;456;454	ENSP00000368754:A426T;ENSP00000179765:A424T;ENSP00000446880:A456T;ENSP00000447941:A454T	ENSP00000179765:A424T	A	-	1	0	BAZ2A	55292073	0.997000	0.39634	0.980000	0.43619	0.018000	0.09664	1.540000	0.36115	1.239000	0.43787	-0.194000	0.12790	GCA		TCGA-IB-7651-01A-11D-2154-08	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	1	0	1	19	103	0	36	1	9.999999e-01	34	139	0	36	2		0	0	0	0	0	2	1	9.999913e-01	18	98	0	36	2								-3.375952	1	1	120906	2	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999523	0.990000	1	9.900000e-01	1
ATP5B	506	broad.mit.edu	37	12	57032949	57032949	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57032949T>C	ENST00000262030.3	-	9	1480	c.1430A>G	c.(1429-1431)cAt>cGt	p.H477R	BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R|BAZ2A_ENST00000551812.1_5'Flank|BAZ2A_ENST00000379441.3_5'Flank|ATP5B_ENST00000550162.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide			19					CTTCCCCATATGACCTGTGAA	0.468000																								0							SO:0001583	missense			ENST00000262030.3	1	1	hg19	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310785	0.60414	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104	T;T;T	0.76060	-0.99;-0.99;-0.99	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	N	0.20445	0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55995	-0.8052	10	0.24483	T	0.36	-13.3117	15.1371	0.72576	0.0:0.0:0.0:1.0	.	477	P06576	ATPB_HUMAN	R	477;466;180	ENSP00000262030:H477R;ENSP00000450297:H466R;ENSP00000450233:H180R	ENSP00000262030:H477R	H	-	2	0	ATP5B	55319216	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	7.872000	0.87187	2.221000	0.72209	0.529000	0.55759	CAT		TCGA-IB-7651-01A-11D-2154-08	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	1	0	1	131	582	0	168	1	1	825	2031	0	168	2		0	0	0	0	0	2	1	1	129	567	0	168	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACA	4666	broad.mit.edu	37	12	57109918	57109918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57109918G>T	ENST00000454682.1	-	3	5677	c.5396C>A	c.(5395-5397)tCt>tAt	p.S1799Y	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit			10					AAGAGGCAGAGAGACTGGTGG	0.557000			T	BCL6	NHL										Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0							SO:0001583	missense			ENST00000454682.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.24	1.580373	0.28180	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.59906	0.23;0.68	3.77	3.77	0.43336	.	.	.	.	.	T	0.54447	0.1859	N	0.08118	0	0.18873	N	0.999983	D;D	0.65815	0.995;0.994	P;P	0.62184	0.887;0.899	T	0.51764	-0.8664	9	0.87932	D	0	.	12.5832	0.56401	0.0:0.0:1.0:0.0	.	1799;646	E9PAV3;F8VU71	.;.	Y	1799;646	ENSP00000403817:S1799Y;ENSP00000448035:S646Y	ENSP00000403817:S1799Y	S	-	2	0	NACA	55396185	0.709000	0.27886	0.918000	0.36340	0.646000	0.38490	1.484000	0.35508	1.928000	0.55862	0.484000	0.47621	TCT		TCGA-IB-7651-01A-11D-2154-08	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	14	147	0	35	0	8.869180e-03	0	2	0	35	2		0	0	0	0	0	2	1	9.995815e-01	12	133	0	35	2								-19.700780	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.600000	1.000000	1.000000	0.930352	0.990000	1	8.000000e-01	1
NACA	4666	broad.mit.edu	37	12	57110723	57110723	+	Missense_Mutation	SNP	C	C	A	rs61937760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57110723C>A	ENST00000454682.1	-	3	4872	c.4591G>T	c.(4591-4593)Gcg>Tcg	p.A1531S	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit			10					AGAAGAGTCGCTGTTGGGGCA	0.582000			T	BCL6	NHL										Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0							SO:0001583	missense			ENST00000454682.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	4.474	0.087945	0.08583	.	.	ENSG00000196531	ENST00000454682	T	0.47869	0.83	2.83	1.55	0.23275	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	1	B	0.27192	0.171	B	0.14023	0.01	T	0.15321	-1.0441	7	.	.	.	.	3.2622	0.06853	0.2245:0.5707:0.0:0.2048	.	1531	E9PAV3	.	S	1531	ENSP00000403817:A1531S	.	A	-	1	0	NACA	55396990	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.017000	0.03630	0.058000	0.16222	0.298000	0.19748	GCG		TCGA-IB-7651-01A-11D-2154-08	NACA-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	85	312	0	60	0	2.049521e-01	0	4	0	60	2		0	0	0	0	0	2	1	1	81	294	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACA	4666	broad.mit.edu	37	12	57111655	57111655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57111655G>A	ENST00000454682.1	-	3	3940	c.3659C>T	c.(3658-3660)aCc>aTc	p.T1220I	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit			10					TGCAGCTGGGGTTGTGGGGGC	0.647000			T	BCL6	NHL										Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0							SO:0001583	missense			ENST00000454682.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	5.864	0.343665	0.11126	.	.	ENSG00000196531	ENST00000454682	T	0.44482	0.92	3.18	0.925	0.19424	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.09310	N	1	B	0.24618	0.107	B	0.25884	0.064	T	0.23583	-1.0184	7	.	.	.	.	7.972	0.30132	0.0:0.0:0.5635:0.4365	.	1220	E9PAV3	.	I	1220	ENSP00000403817:T1220I	.	T	-	2	0	NACA	55397922	0.009000	0.17119	0.000000	0.03702	0.181000	0.23173	1.415000	0.34748	0.273000	0.22049	0.186000	0.17326	ACC		TCGA-IB-7651-01A-11D-2154-08	NACA-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	131	545	0	146		0	0	0	0	146	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACA	4666	broad.mit.edu	37	12	57113606	57113606	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57113606A>G	ENST00000454682.1	-	3	1989	c.1708T>C	c.(1708-1710)Tcc>Ccc	p.S570P	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit			10					AAAGAAGGGGAATTTTTAGGG	0.502000			T	BCL6	NHL										Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0							SO:0001583	missense			ENST00000454682.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	6.909	0.537275	0.13188	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.60920	0.15;0.76	3.55	-0.573	0.11742	.	.	.	.	.	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.08055	0.002;0.003	T	0.20538	-1.0272	9	0.87932	D	0	.	3.5169	0.07728	0.5152:0.2055:0.2793:0.0	.	570;570	E9PAV3;F8VU71	.;.	P	570	ENSP00000403817:S570P;ENSP00000448035:S570P	ENSP00000403817:S570P	S	-	1	0	NACA	55399873	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.020000	0.13466	-0.006000	0.14370	0.369000	0.22263	TCC		TCGA-IB-7651-01A-11D-2154-08	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	48	162	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1	47	158	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACA	4666	broad.mit.edu	37	12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit			10					AGAGCCCAGAGAAATGGGAAA	0.483000			T	BCL6	NHL										Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0							SO:0001583	missense			ENST00000454682.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	10.65	1.410132	0.25465	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.61158	0.13;0.46	3.97	3.06	0.35304	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.004	T	0.31503	-0.9941	9	0.87932	D	0	.	9.2912	0.37789	0.0:0.0:0.7871:0.2128	.	304;304	E9PAV3;F8VU71	.;.	Y	304	ENSP00000403817:S304Y;ENSP00000448035:S304Y	ENSP00000403817:S304Y	S	-	2	0	NACA	55400670	0.068000	0.21057	0.168000	0.22838	0.050000	0.14768	1.158000	0.31737	0.667000	0.31107	-1.344000	0.01245	TCT		TCGA-IB-7651-01A-11D-2154-08	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	47	221	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	45	219	0	61	2								-20.000000	1	1	120354	1	27	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACA	4666	broad.mit.edu	37	12	57115165	57115165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57115165G>T	ENST00000454682.1	-	3	430	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit			10					TGGGGCAGGAGAGCAAGGAGG	0.562000			T	BCL6	NHL										Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0							SO:0001583	missense			ENST00000454682.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.547	0.661910	0.14645	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.33216	1.42;1.42	3.46	3.46	0.39613	.	.	.	.	.	T	0.33614	0.0869	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	T	0.18147	-1.0346	9	0.87932	D	0	.	10.6916	0.45875	0.0:0.0:1.0:0.0	.	50;50	E9PAV3;F8VU71	.;.	Y	50	ENSP00000403817:S50Y;ENSP00000448035:S50Y	ENSP00000403817:S50Y	S	-	2	0	NACA	55401432	0.438000	0.25602	0.048000	0.18961	0.100000	0.18952	3.563000	0.53784	1.959000	0.56917	0.456000	0.33151	TCT		TCGA-IB-7651-01A-11D-2154-08	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	12	158	0	26	0	6.116413e-03	0	2	0	26	2		0	0	0	0	0	2	1	9.990347e-01	12	152	0	26	2								-16.701600	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.860000	0.470000	1.000000	1.000000	0.837382	0.860000	1	6.400000e-01	1
HSD17B6	8630	broad.mit.edu	37	12	57167744	57167744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57167744C>T	ENST00000554643.1	+	3	457	c.108C>T	c.(106-108)ggC>ggT	p.G36G	HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G|HSD17B6_ENST00000554150.1_Silent_p.G36G|HSD17B6_ENST00000555159.1_Silent_p.G36G			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6			10				Succinic acid(DB00139)	TTATCACGGGCTGTGACTCGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000554643.1	1	1	hg19	CCDS8925.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	0	0	0	14	376	0	69	0	1.260891e-01	0	16	0	69	2		0	0	0	0	0	2	1	9.997286e-01	14	368	0	68	2								-3.839266	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.440000	0.240000	1.000000	0.420000	0.483323	0.440000	0	3.300000e-01	6.000000e-01
RDH16	8608	broad.mit.edu	37	12	57345960	57345960	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57345960C>T	ENST00000398138.3	-	4	1663	c.807G>A	c.(805-807)gaG>gaA	p.E269E	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)			16					TCAGCGCATGCTCCATGCAGT	0.512000													GBM(179;741 2921 43105 45298)											0							SO:0001819	synonymous_variant			ENST00000398138.3	1	1	hg19	CCDS41797.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	1	0	1	51	225	0	53	1	9.227796e-02	2	1	0	53	2		0	0	0	0	0	2	1	1	50	221	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RDH16	8608	broad.mit.edu	37	12	57351092	57351092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57351092C>T	ENST00000398138.3	-	1	1011	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)			16					CCGCAAGCCTCGTGCATCCAG	0.602000													GBM(179;741 2921 43105 45298)											0							SO:0001583	missense			ENST00000398138.3	1	1	hg19	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488577	0.12641	.	.	ENSG00000139547	ENST00000398138	D	0.87887	-2.31	4.72	2.83	0.33086	NAD(P)-binding domain (1);	0.000000	0.53938	D	0.000055	T	0.68550	0.3013	N	0.05177	-0.1	0.09310	N	0.999997	B	0.31435	0.323	B	0.28139	0.086	T	0.59526	-0.7438	10	0.39692	T	0.17	.	5.2471	0.15502	0.1676:0.6543:0.0:0.1781	.	52	O75452	RDH16_HUMAN	Q	52	ENSP00000381206:R52Q	ENSP00000381206:R52Q	R	-	2	0	RDH16	55637359	0.000000	0.05858	0.577000	0.28562	0.042000	0.13812	0.073000	0.14640	0.553000	0.29044	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	1	0	1	99	375	0	108	0	0	1	0	0	108	2		0	0	0	0	0	2	1	1	98	364	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR182	11318	broad.mit.edu	37	12	57389159	57389159	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389159C>A	ENST00000300098.1	+	2	385	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182			15					GCGCGTGGTCCTCTTTGCCCT	0.592000																								0							SO:0001583	missense			ENST00000300098.1	1	1	hg19	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759994	0.69763	.	.	ENSG00000166856	ENST00000300098	T	0.43294	0.95	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.40448	0.1117	L	0.34521	1.04	0.44201	D	0.997028	D	0.58620	0.983	P	0.53313	0.723	T	0.12192	-1.0557	10	0.41790	T	0.15	.	8.6249	0.33883	0.0:0.8967:0.0:0.1033	.	56	O15218	GP182_HUMAN	I	56	ENSP00000300098:L56I	ENSP00000300098:L56I	L	+	1	0	GPR182	55675426	1.000000	0.71417	0.897000	0.35233	0.901000	0.52897	3.782000	0.55401	2.504000	0.84457	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	1	0	1	145	614	0	141	0	0	0	1	0	141	2		0	0	0	0	0	2	1	1	144	603	0	140	2								-3.461333	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR182	11318	broad.mit.edu	37	12	57389519	57389519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389519G>T	ENST00000300098.1	+	2	745	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182			15					CATGTGTGCAGGCATCTGGGT	0.642000																								0							SO:0001583	missense			ENST00000300098.1	1	1	hg19	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	g	8.415	0.844990	0.16963	.	.	ENSG00000166856	ENST00000300098	T	0.39056	1.1	4.44	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.249082	0.38492	N	0.001661	T	0.37433	0.1003	L	0.54323	1.7	0.28950	N	0.890447	P	0.39326	0.668	B	0.42882	0.401	T	0.26018	-1.0115	10	0.48119	T	0.1	.	6.053	0.19796	0.1801:0.1574:0.6625:0.0	.	176	O15218	GP182_HUMAN	C	176	ENSP00000300098:G176C	ENSP00000300098:G176C	G	+	1	0	GPR182	55675786	0.999000	0.42202	0.031000	0.17742	0.034000	0.12701	3.007000	0.49536	0.235000	0.21160	-0.217000	0.12591	GGC		TCGA-IB-7651-01A-11D-2154-08	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	1	0	0	18	346	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	9.999808e-01	18	340	0	58	2								-19.480680	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.600000	0.360000	1.000000	0.580000	0.631948	0.600000	0	4.700000e-01	7.800000e-01
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389924C>T	ENST00000300098.1	+	2	1150	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182			15					CTTCTCCATGCTGCACTGTGT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000300098.1	1	1	hg19	CCDS8927.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	1	0	0	104	1104	0	216		0	0	0	0	216	2		0	0	0	0	0	2	1	1	101	1077	0	215	2								-19.999910	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.840000	1.000000	1.000000	0.974590	0.990000	1	9.200000e-01	1
ZBTB39	9880	broad.mit.edu	37	12	57396934	57396934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57396934G>T	ENST00000300101.2	-	2	1853	c.1768C>A	c.(1768-1770)Ctg>Atg	p.L590M		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39			16					TCTTCACCCAGAAACTCCTCT	0.562000																								0							SO:0001583	missense			ENST00000300101.2	1	1	hg19	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063297	0.36373	.	.	ENSG00000166860	ENST00000300101	T	0.10860	2.83	5.18	3.37	0.38596	.	0.332649	0.25906	N	0.027539	T	0.10680	0.0261	N	0.19112	0.55	0.25436	N	0.988136	D	0.62365	0.991	P	0.51999	0.687	T	0.07829	-1.0752	10	0.72032	D	0.01	-7.7598	7.0407	0.25019	0.2693:0.0:0.7307:0.0	.	590	O15060	ZBT39_HUMAN	M	590	ENSP00000300101:L590M	ENSP00000300101:L590M	L	-	1	2	ZBTB39	55683201	0.051000	0.20477	1.000000	0.80357	0.984000	0.73092	-0.020000	0.12525	0.777000	0.33496	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	1	0	1	66	293	0	67	0	3.095153e-01	0	6	0	67	2		0	0	0	0	0	2	1	1	66	287	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB39	9880	broad.mit.edu	37	12	57397488	57397488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397488C>T	ENST00000300101.2	-	2	1299	c.1214G>A	c.(1213-1215)tGt>tAt	p.C405Y		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39			16					CTTAGTTTCACACATGTCGCA	0.522000																								0							SO:0001583	missense			ENST00000300101.2	1	1	hg19	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587986	0.66105	.	.	ENSG00000166860	ENST00000300101	T	0.58652	0.32	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.85036	0.0920	10	0.87932	D	0	-7.2323	17.0969	0.86637	0.0:1.0:0.0:0.0	.	405	O15060	ZBT39_HUMAN	Y	405	ENSP00000300101:C405Y	ENSP00000300101:C405Y	C	-	2	0	ZBTB39	55683755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.644000	0.89710	0.655000	0.94253	TGT		TCGA-IB-7651-01A-11D-2154-08	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	1	0	0	69	260	0	58	0	2.868597e-01	0	5	0	58	2		0	0	0	0	0	2	1	1	69	252	0	57	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB39	9880	broad.mit.edu	37	12	57397725	57397725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397725C>A	ENST00000300101.2	-	2	1062	c.977G>T	c.(976-978)aGt>aTt	p.S326I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39			16					CTCATCCTCACTGTCATCACT	0.507000																								0							SO:0001583	missense			ENST00000300101.2	1	1	hg19	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842889	0.51057	.	.	ENSG00000166860	ENST00000300101	T	0.09723	2.95	4.9	4.9	0.64082	.	0.161766	0.56097	D	0.000036	T	0.23410	0.0566	L	0.38175	1.15	0.47862	D	0.999532	D	0.65815	0.995	D	0.75484	0.986	T	0.00494	-1.1706	10	0.40728	T	0.16	-11.7735	15.6413	0.77006	0.0:1.0:0.0:0.0	.	326	O15060	ZBT39_HUMAN	I	326	ENSP00000300101:S326I	ENSP00000300101:S326I	S	-	2	0	ZBTB39	55683992	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.722000	0.54948	2.547000	0.85894	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	1	0	1	94	883	0	181	0	2.526907e-01	0	10	0	181	2		0	0	0	0	0	2	1	1	93	864	0	181	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.930000	1.000000	1.000000	0.995814	0.990000	1	9.900000e-01	1
MYO1A	4640	broad.mit.edu	37	12	57431699	57431699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57431699G>A	ENST00000442789.2	-	19	2202	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*|MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA			50					CTCAGCAATCGGTACCTTTCC	0.627000																								0							SO:0001587	stop_gained			ENST00000442789.2	0	1	hg19	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	38	7.067101	0.98040	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	.	.	.	5.13	3.09	0.35607	.	0.070096	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	11.0791	0.48049	0.0:0.0:0.666:0.334	.	.	.	.	X	639;639;477	.	ENSP00000300119:R639X	R	-	1	2	MYO1A	55717966	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	3.906000	0.56340	2.396000	0.81511	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	1	0	1	42	198	0	42	0	5.490853e-01	0	10	0	42	2		0	0	0	0	0	2	1	1	42	195	0	42	2								-3.007011	1	1	121412	1	32	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1A	4640	broad.mit.edu	37	12	57432600	57432600	+	Missense_Mutation	SNP	G	G	A	rs141039063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57432600G>A	ENST00000442789.2	-	17	1813	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA			50					CACCTTGCCCGCATAGTGGCA	0.577000																								0							SO:0001583	missense			ENST00000442789.2	1	1	hg19	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972551	0.92919	2.27E-4	0.0	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93426	-3.22;-3.22;-3.22	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	15.2089	0.73202	0.0:0.0:1.0:0.0	.	509	Q9UBC5	MYO1A_HUMAN	V	509;509;347	ENSP00000300119:A509V;ENSP00000393392:A509V;ENSP00000440514:A347V	ENSP00000300119:A509V	A	-	2	0	MYO1A	55718867	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.657000	0.98554	2.542000	0.85734	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	0	0	1	41	196	1	57	1	4.846279e-01	2	7	1	57	2		0	0	0	0	0	2	1	9.999210e-01	39	191	1	55	15								-3.094238	1	0	121412	7	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM194A	23306	broad.mit.edu	37	12	57453749	57453749	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57453749C>A	ENST00000300128.4	-	9	1271	c.1248G>T	c.(1246-1248)caG>caT	p.Q416H	TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A			12					AGATTTCATCCTGGGCAATAA	0.463000																								0							SO:0001583	missense			ENST00000300128.4	1	1	hg19	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576794	0.86645	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.45276	0.91;0.9	5.61	3.78	0.43462	.	0.050665	0.85682	D	0.000000	T	0.39200	0.1069	L	0.51422	1.61	0.33505	D	0.590422	P;P	0.44195	0.736;0.828	B;P	0.45138	0.28;0.471	T	0.56998	-0.7886	10	0.87932	D	0	-4.3227	6.9108	0.24335	0.0:0.7363:0.0:0.2637	.	416;343	O14524;O14524-2	T194A_HUMAN;.	H	343;416	ENSP00000368701:Q343H;ENSP00000300128:Q416H	ENSP00000300128:Q416H	Q	-	3	2	TMEM194A	55740016	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	1.595000	0.36708	1.364000	0.46038	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	1	0	1	48	143	0	50	0	8.405503e-01	1	11	0	50	2		0	0	0	0	0	2	1	1	47	142	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAB2	4665	broad.mit.edu	37	12	57487215	57487215	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57487215G>A	ENST00000300131.3	+	6	1680	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)			20					CAAGGCTGACGCCGCCCCCTG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000300131.3	1	1	hg19	CCDS8930.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	1	0	1	11	60	0	16	1	9.993065e-01	11	67	0	16	2		0	0	0	0	0	2	1	9.986826e-01	11	59	0	16	2								-19.699940	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.960000	1.000000	1.000000	0.996216	0.990000	1	9.900000e-01	1
STAT6	6778	broad.mit.edu	37	12	57492642	57492642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57492642C>T	ENST00000300134.3	-	18	2324	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	STAT6_ENST00000556155.1_Missense_Mutation_p.V667M|STAT6_ENST00000538913.2_Missense_Mutation_p.V557M|STAT6_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000454075.3_Missense_Mutation_p.V667M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced			28					TAAGAAGGCACCATGGTAGGC	0.552000																								0							SO:0001583	missense			ENST00000300134.3	1	1	hg19	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074910	0.36566	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.91945	-2.7;-2.94;-2.7;-2.7;-2.94;-2.7;-1.14	5.91	-2.12	0.07165	.	0.859837	0.10251	N	0.697198	D	0.82962	0.5151	N	0.24115	0.695	0.29201	N	0.875242	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.68232	-0.5463	10	0.46703	T	0.11	-1.3655	5.7139	0.17950	0.0:0.316:0.3716:0.3124	.	667;667	A8K4S9;P42226	.;STAT6_HUMAN	M	667;557;557;667;667;557;667;557;95;667	ENSP00000300134:V667M;ENSP00000445409:V557M;ENSP00000438451:V667M;ENSP00000451742:V667M;ENSP00000444530:V557M;ENSP00000401486:V667M;ENSP00000450428:V95M	ENSP00000300134:V667M	V	-	1	0	STAT6	55778909	0.020000	0.18652	0.064000	0.19789	0.933000	0.57130	-1.084000	0.03393	-0.754000	0.04715	-0.140000	0.14226	GTG		TCGA-IB-7651-01A-11D-2154-08	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	0	0	0	11	399	0	79	1	9.998103e-01	28	554	0	79	2		0	0	0	0	0	2	1	9.981950e-01	11	391	0	78	2								-3.159053	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.330000	0.170000	1.000000	0.310000	0.383445	0.330000	0	2.400000e-01	4.700000e-01
STAT6	6778	broad.mit.edu	37	12	57493091	57493091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57493091C>T	ENST00000300134.3	-	16	2202	c.1877G>A	c.(1876-1878)cGg>cAg	p.R626Q	STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced			28					GTAGTGGCTCCGGAAAGCCTC	0.587000																								0							SO:0001583	missense			ENST00000300134.3	1	1	hg19	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610067	0.46527	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	4.8	4.8	0.61643	SH2 motif (2);	0.203658	0.43416	D	0.000561	D	0.88959	0.6579	N	0.12182	0.205	0.36482	D	0.867902	B;P	0.44946	0.154;0.846	B;B	0.27380	0.01;0.079	D	0.92008	0.5616	10	0.45353	T	0.12	-18.9484	15.7354	0.77839	0.0:1.0:0.0:0.0	.	626;626	A8K4S9;P42226	.;STAT6_HUMAN	Q	626;516;516;626;626;516;626;516;54;626	ENSP00000300134:R626Q;ENSP00000445409:R516Q;ENSP00000438451:R626Q;ENSP00000451742:R626Q;ENSP00000444530:R516Q;ENSP00000401486:R626Q;ENSP00000450428:R54Q	ENSP00000300134:R626Q	R	-	2	0	STAT6	55779358	0.961000	0.32948	1.000000	0.80357	0.991000	0.79684	1.989000	0.40707	2.664000	0.90586	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	1	0	1	116	421	0	89	1	1	140	340	0	89	2		0	0	0	0	0	2	1	1	110	415	0	86	2								-3.279379	1	1	121412	2	33	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAT6	6778	broad.mit.edu	37	12	57499063	57499063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499063G>A	ENST00000300134.3	-	9	1197	c.872C>T	c.(871-873)gCt>gTt	p.A291V	STAT6_ENST00000556155.1_Missense_Mutation_p.A291V|STAT6_ENST00000538913.2_Missense_Mutation_p.A181V|STAT6_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000454075.3_Missense_Mutation_p.A291V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced			28					TCGAACTCCAGCCTGGAACTT	0.627000																								0							SO:0001583	missense			ENST00000300134.3	0	1	hg19	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004075	0.93287	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.64	4.64	0.57946	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.060447	0.64402	D	0.000003	T	0.76601	0.4010	N	0.20304	0.555	0.58432	D	0.999997	D;D	0.71674	0.998;0.994	D;D	0.70227	0.968;0.949	T	0.80520	-0.1346	10	0.87932	D	0	-10.5878	15.0492	0.71854	0.0:0.0:1.0:0.0	.	291;291	A8K4S9;P42226	.;STAT6_HUMAN	V	291;181;181;291;291;181;291;181;291	ENSP00000300134:A291V;ENSP00000445409:A181V;ENSP00000438451:A291V;ENSP00000451742:A291V;ENSP00000444530:A181V;ENSP00000401486:A291V	ENSP00000300134:A291V	A	-	2	0	STAT6	55785330	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	9.485000	0.97942	2.403000	0.81681	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	0	0	0	11	402	0	72	1	9.927927e-01	15	294	0	72	2		0	0	0	0	0	2	1	9.981706e-01	10	394	0	71	2								-3.703773	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.330000	0.170000	1.000000	0.310000	0.381165	0.330000	0	2.400000e-01	4.700000e-01
STAT6	6778	broad.mit.edu	37	12	57499295	57499295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499295C>T	ENST00000300134.3	-	8	1093	c.768G>A	c.(766-768)tcG>tcA	p.S256S	STAT6_ENST00000556155.1_Silent_p.S256S|STAT6_ENST00000538913.2_Silent_p.S146S|STAT6_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000454075.3_Silent_p.S256S|STAT6_ENST00000543873.2_Silent_p.S256S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced			28					GGCCAGTCAGCGATGCCCGGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000300134.3	1	1	hg19	CCDS8931.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	1	0	1	38	165	0	47	1	1	141	315	0	47	2		0	0	0	0	0	2	1	1	36	161	0	47	2								-3.505309	1	0	121412	13	38	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAT6	6778	broad.mit.edu	37	12	57499303	57499303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499303G>A	ENST00000300134.3	-	8	1085	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	STAT6_ENST00000556155.1_Missense_Mutation_p.R254W|STAT6_ENST00000538913.2_Missense_Mutation_p.R144W|STAT6_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced			28					AGCGATGCCCGGGTCTTGGGC	0.617000																								0							SO:0001583	missense			ENST00000300134.3	1	1	hg19	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039745	0.35989	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.19	3.33	0.38152	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.207808	0.33515	N	0.004828	T	0.55337	0.1914	N	0.22421	0.69	0.37815	D	0.928196	D;D	0.69078	0.997;0.983	P;P	0.54815	0.761;0.545	T	0.60311	-0.7288	10	0.72032	D	0.01	-18.7629	6.2986	0.21099	0.0923:0.0:0.7261:0.1816	.	254;254	A8K4S9;P42226	.;STAT6_HUMAN	W	254;144;144;254;254;144;254;144;254	ENSP00000300134:R254W;ENSP00000445409:R144W;ENSP00000438451:R254W;ENSP00000451742:R254W;ENSP00000444530:R144W;ENSP00000401486:R254W	ENSP00000300134:R254W	R	-	1	2	STAT6	55785570	0.990000	0.36364	1.000000	0.80357	0.005000	0.04900	2.916000	0.48813	0.749000	0.32854	-0.140000	0.14226	CGG		TCGA-IB-7651-01A-11D-2154-08	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	1	0	1	33	154	0	43	1	1	149	319	0	43	2		0	0	0	0	0	2	1	1	32	152	0	43	2								-2.888141	1	0	121410	2	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57539109	57539109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57539109G>T	ENST00000243077.3	+	6	1143	c.677G>T	c.(676-678)aGc>aTc	p.S226I	LRP1_ENST00000338962.4_Missense_Mutation_p.S226I|LRP1_ENST00000553277.1_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000554174.1_Missense_Mutation_p.S226I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCTACGAGCACGCGGCAG	0.597000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421785	0.43020	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.91124	-2.65;-2.79;-2.6;-2.79	5.08	5.08	0.68730	Six-bladed beta-propeller, TolB-like (1);	0.130255	0.48286	D	0.000194	D	0.88043	0.6331	M	0.62723	1.935	0.37173	D	0.903141	B;B;B;P	0.45902	0.244;0.244;0.411;0.868	B;B;B;B	0.36666	0.075;0.079;0.097;0.23	D	0.90319	0.4343	10	0.42905	T	0.14	.	16.3808	0.83460	0.0:0.0:1.0:0.0	.	226;226;226;226	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	I	226	ENSP00000451449:S226I;ENSP00000243077:S226I;ENSP00000341264:S226I;ENSP00000451737:S226I	ENSP00000243077:S226I	S	+	2	0	LRP1	55825376	1.000000	0.71417	0.999000	0.59377	0.667000	0.39255	3.498000	0.53302	2.826000	0.97356	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	30	180	0	45	1	1	18	254	0	45	2		0	0	0	0	0	2	1	1	30	176	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999853	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57559588	57559588	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57559588C>T	ENST00000243077.3	+	16	2997	c.2531C>T	c.(2530-2532)gCg>gTg	p.A844V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCCCACAGCGAACCCATCC	0.552000																								0							SO:0001630	splice_region_variant			ENST00000243077.3	1	0	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456331	0.63401	.	.	ENSG00000123384	ENST00000243077	D	0.95656	-3.77	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.90225	0.6944	N	0.26042	0.785	0.80722	D	1	B	0.15719	0.014	B	0.10450	0.005	D	0.84772	0.0768	9	.	.	.	.	11.8265	0.52269	0.0:0.9158:0.0:0.0842	.	844	Q07954	LRP1_HUMAN	V	844	ENSP00000243077:A844V	.	A	+	2	0	LRP1	55845855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.597000	0.67577	2.826000	0.97356	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	67	320	0	88	1	1	2	268	0	88	2		0	0	0	0	0	2	1	1	68	316	0	88	2								-3.363765	1	1	121412	1	32	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57577289	57577289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577289C>T	ENST00000243077.3	+	35	6256	c.5790C>T	c.(5788-5790)caC>caT	p.H1930H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGACTTCCACGCTGGTGAGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000243077.3	1	1	hg19	CCDS8932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	29	134	0	26	1	1	17	301	0	26	2		0	0	0	0	0	2	1	1	28	130	0	24	2								-20.000000	1	1	121410	2	27	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57577893	57577893	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577893C>A	ENST00000243077.3	+	37	6421	c.5955C>A	c.(5953-5955)ggC>ggA	p.G1985G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGACCAGGGCTTTGATGTCA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000243077.3	1	1	hg19	CCDS8932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	33	171	0	33	1	1	16	400	0	33	2		0	0	0	0	0	2	1	1	33	167	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57578941	57578941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57578941G>A	ENST00000243077.3	+	40	6882	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGGCATCGGCGTCCAGCTT	0.617000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062711	0.76187	.	.	ENSG00000123384	ENST00000243077	D	0.91295	-2.82	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.90321	0.6972	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85181	0.1004	10	0.02654	T	1	.	17.7439	0.88414	0.0:0.0:1.0:0.0	.	2139	Q07954	LRP1_HUMAN	D	2139	ENSP00000243077:G2139D	ENSP00000243077:G2139D	G	+	2	0	LRP1	55865208	1.000000	0.71417	0.222000	0.23844	0.120000	0.20174	9.869000	0.99810	2.489000	0.83994	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	82	413	0	111	1	1	15	263	0	111	2		0	0	0	0	0	2	1	1	81	405	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57587035	57587035	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587035C>T	ENST00000243077.3	+	46	8098	c.7632C>T	c.(7630-7632)tgC>tgT	p.C2544C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTGACCTGCGACGGCGTCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000243077.3	1	1	hg19	CCDS8932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	76	339	0	89	1	1	18	465	0	89	2		0	0	0	0	0	2	1	1	75	334	0	89	2								-3.322550	1	1	121412	3	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57587393	57587393	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587393C>T	ENST00000243077.3	+	47	8195	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCAATGGGCGCTGTGTGTC	0.607000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873444	0.72180	.	.	ENSG00000123384	ENST00000243077	D	0.96136	-3.92	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	D	0.97567	0.9203	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98096	1.0412	10	0.72032	D	0.01	.	17.2551	0.87053	0.0:1.0:0.0:0.0	.	2577	Q07954	LRP1_HUMAN	C	2577	ENSP00000243077:R2577C	ENSP00000243077:R2577C	R	+	1	0	LRP1	55873660	0.990000	0.36364	0.993000	0.49108	0.571000	0.35966	3.867000	0.56047	2.606000	0.88127	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	35	164	0	65	1	1	38	410	0	65	2		0	0	0	0	0	2	1	1	32	158	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57587714	57587714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587714C>T	ENST00000243077.3	+	48	8303	c.7837C>T	c.(7837-7839)Cgg>Tgg	p.R2613W	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTTCCGCTGCCGGGACGGGAC	0.607000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803636	0.50315	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.95690	-3.78	5.09	4.19	0.49359	.	0.164278	0.37261	N	0.002175	D	0.96617	0.8896	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	D	0.96868	0.9637	10	0.66056	D	0.02	.	14.7368	0.69422	0.0:0.8543:0.1457:0.0	.	2613	Q07954	LRP1_HUMAN	W	2613	ENSP00000243077:R2613W	ENSP00000243077:R2613W	R	+	1	2	LRP1	55873981	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	1.355000	0.34068	1.368000	0.46115	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	50	249	0	48	1	1	16	363	0	48	2		0	0	0	0	0	2	1	1	49	243	0	48	2								-3.356407	1	1	121412	4	39	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1	4035	broad.mit.edu	37	12	57588276	57588276	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57588276C>T	ENST00000243077.3	+	49	8524	c.8058C>T	c.(8056-8058)cgC>cgT	p.R2686R	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGATGAGCGCGACTGCCCAG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000243077.3	1	1	hg19	CCDS8932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	0	82	858	0	147	1	1	7	358	0	147	2		0	0	0	0	0	2	1	1	82	846	0	146	2								-19.731450	1	1	121372	8	43	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.830000	1.000000	1.000000	0.975249	0.990000	1	9.200000e-01	1
LRP1	4035	broad.mit.edu	37	12	57590814	57590814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57590814C>T	ENST00000243077.3	+	56	9408	c.8942C>T	c.(8941-8943)gCt>gTt	p.A2981V	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGACGTGTGCTGATGTGGAC	0.652000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145484	0.37825	.	.	ENSG00000123384	ENST00000243077	D	0.93189	-3.18	5.34	4.45	0.53987	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.427349	0.21337	N	0.076199	D	0.82375	0.5023	N	0.05078	-0.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75291	-0.3369	10	0.24483	T	0.36	.	7.1939	0.25841	0.0:0.7505:0.0:0.2495	.	2981	Q07954	LRP1_HUMAN	V	2981	ENSP00000243077:A2981V	ENSP00000243077:A2981V	A	+	2	0	LRP1	55877081	0.900000	0.30661	0.607000	0.28956	0.903000	0.53119	3.175000	0.50855	1.489000	0.48450	0.511000	0.50034	GCT		TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	0	26	235	0	40	1	1	18	445	0	40	2		0	0	0	0	0	2	1	9.999999e-01	25	233	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.800000	1.000000	1.000000	0.982270	0.990000	1	9.800000e-01	1
LRP1	4035	broad.mit.edu	37	12	57598459	57598459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57598459C>T	ENST00000243077.3	+	72	11587	c.11121C>T	c.(11119-11121)cgC>cgT	p.R3707R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGAATGACCGCGTCTGTCTGT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000243077.3	0	1	hg19	CCDS8932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	0	0	0	11	630	0	126	1	9.977126e-01	3	602	0	126	2		0	0	0	0	0	2	1	9.980506e-01	11	612	0	122	2								-8.236516	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.210000	0.100000	1.000000	0.210000	0.269656	0.210000	0	1.500000e-01	3.000000e-01
LRP1	4035	broad.mit.edu	37	12	57606279	57606279	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57606279G>A	ENST00000243077.3	+	89	14042	c.13576G>A	c.(13576-13578)Gag>Aag	p.E4526K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCACGGACGAGAAGCGAGA	0.667000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403715	0.83230	.	.	ENSG00000123384	ENST00000243077	T	0.51817	0.69	4.66	3.75	0.43078	.	0.000000	0.53938	D	0.000054	T	0.66396	0.2785	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.70695	-0.4801	10	0.66056	D	0.02	.	13.5221	0.61574	0.0:0.1583:0.8417:0.0	.	4526	Q07954	LRP1_HUMAN	K	4526	ENSP00000243077:E4526K	ENSP00000243077:E4526K	E	+	1	0	LRP1	55892546	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	7.467000	0.80930	1.130000	0.42092	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1	60	315	0	75	1	1	112	1349	0	75	2		0	0	0	0	0	2	1	1	59	306	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHMT2	6472	broad.mit.edu	37	12	57625629	57625629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57625629G>A	ENST00000328923.3	+	4	897	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	SHMT2_ENST00000393827.4_Nonsense_Mutation_p.W43*|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000554600.1_3'UTR	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)			15				Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	AGCCAACCTGGCCGTCTACAC	0.637000													Esophageal Squamous(150;1369 2416 49071 49364)											0							SO:0001583	missense			ENST00000328923.3	0	0	hg19	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.776594|5.776594	0.96929|0.96929	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737|ENST00000393827	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46451|.	1.35;0.87;0.87;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84000|.	0.5376|.	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.999;1.0|.	D|.	0.87028|.	0.2133|.	9|.	0.54805|0.59425	T|D	0.06|0.04	-14.0511|-14.0511	16.9817|16.9817	0.86329|0.86329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158;149;149|.	B4DWA7;Q8N1A5;P34897|.	.;.;GLYM_HUMAN|.	T|X	149;149;149;128;128;128;128;128;128;128;128;128;128|43	ENSP00000333667:A149T;ENSP00000452315:A149T;ENSP00000452035:A149T;ENSP00000406881:A128T;ENSP00000450452:A128T;ENSP00000452161:A128T;ENSP00000450893:A128T;ENSP00000452045:A128T;ENSP00000452419:A128T;ENSP00000451968:A128T;ENSP00000452404:A128T;ENSP00000413770:A128T;ENSP00000451495:A128T|.	ENSP00000333667:A149T|ENSP00000377413:W43X	A|W	+|+	1|3	0|0	SHMT2|SHMT2	55911896|55911896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	9.657000|9.657000	0.98554|0.98554	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCC|TGG		TCGA-IB-7651-01A-11D-2154-08	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	1	0	1	30	151	0	34	1	1	251	533	0	34	2		0	0	0	0	0	2	1	1	30	146	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
SHMT2	6472	broad.mit.edu	37	12	57626282	57626282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626282G>A	ENST00000328923.3	+	6	1093	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000554600.1_3'UTR	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)			15				Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CTGACTGCTCGACTTTTCCGG	0.582000													Esophageal Squamous(150;1369 2416 49071 49364)											0							SO:0001583	missense			ENST00000328923.3	1	1	hg19	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442673	0.43326	0.0	1.16E-4	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049;ENST00000393827	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.09	5.09	0.68999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.237070	0.38837	N	0.001543	T	0.31513	0.0799	L	0.47078	1.49	0.48395	D	0.999647	D;P;P;P;P	0.54772	0.968;0.837;0.862;0.93;0.911	B;B;B;B;B	0.34873	0.144;0.191;0.161;0.087;0.068	T	0.19353	-1.0308	10	0.12103	T	0.63	-4.0994	17.7941	0.88564	0.0:0.0:1.0:0.0	.	223;204;118;145;214	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897	.;.;.;.;GLYM_HUMAN	Q	214;204;53;193;193;193;193;118	ENSP00000333667:R214Q;ENSP00000452315:R204Q;ENSP00000450930:R53Q;ENSP00000406881:R193Q;ENSP00000452419:R193Q;ENSP00000452404:R193Q;ENSP00000413770:R193Q;ENSP00000377413:R118Q	ENSP00000333667:R214Q	R	+	2	0	SHMT2	55912549	0.984000	0.35163	0.983000	0.44433	0.959000	0.62525	4.199000	0.58426	2.816000	0.96949	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	1	0	1	150	697	0	151	1	1	26	295	0	151	2		0	0	0	0	0	2	1	1	148	678	1	150	19								-3.164492	1	0	121412	2	39	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHMT2	6472	broad.mit.edu	37	12	57626358	57626358	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626358G>T	ENST00000328923.3	+	6	1169	c.717G>T	c.(715-717)gaG>gaT	p.E239D	SHMT2_ENST00000393827.4_Splice_Site_p.E143D|SHMT2_ENST00000557487.1_Splice_Site_p.E229D|SHMT2_ENST00000553474.1_Splice_Site_p.E218D|SHMT2_ENST00000449049.3_Splice_Site_p.E218D|SHMT2_ENST00000414700.3_Splice_Site_p.E218D	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)			15				Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GCATGAGAGAGGTTGGTGGGG	0.667000													Esophageal Squamous(150;1369 2416 49071 49364)											0							SO:0001630	splice_region_variant			ENST00000328923.3	1	0	hg19	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.183758|4.183758	0.78677|0.78677	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T;T|.	0.50001|.	1.29;0.76;0.76;1.29;1.29;1.29;0.76|.	5.09|5.09	4.2|4.2	0.49525|0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.051686|.	0.85682|.	D|.	0.000000|.	T|T	0.69984|0.69984	0.3172|0.3172	M|M	0.66506|0.66506	2.035|2.035	0.54753|0.54753	D|D	0.999983|0.999983	P;B;B;P;B|.	0.45768|.	0.578;0.293;0.139;0.866;0.259|.	B;B;B;P;B|.	0.48873|.	0.388;0.297;0.12;0.593;0.174|.	T|T	0.70142|0.70142	-0.4953|-0.4953	10|5	0.59425|.	D|.	0.04|.	-0.8048|-0.8048	12.9784|12.9784	0.58549|0.58549	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	248;229;143;170;239|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	D|C	239;229;78;218;218;218;143|39	ENSP00000333667:E239D;ENSP00000452315:E229D;ENSP00000450930:E78D;ENSP00000406881:E218D;ENSP00000452419:E218D;ENSP00000413770:E218D;ENSP00000377413:E143D|.	ENSP00000333667:E239D|.	E|G	+|+	3|1	2|0	SHMT2|SHMT2	55912625|55912625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	8.000000|8.000000	0.88501|0.88501	1.522000|1.522000	0.49001|0.49001	0.563000|0.563000	0.77884|0.77884	GAG|GGT		TCGA-IB-7651-01A-11D-2154-08	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	1	0	1	123	639	0	130	1	1	18	242	0	130	2		0	0	0	0	0	2	1	1	119	621	0	127	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INHBC	3626	broad.mit.edu	37	12	57843728	57843728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57843728C>T	ENST00000309668.2	+	2	1109	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C			16					CCTGTCTCTGCTCTATTATGA	0.562000																								0							SO:0001583	missense			ENST00000309668.2	1	1	hg19	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736685	0.69304	.	.	ENSG00000175189	ENST00000309668	D	0.87029	-2.2	4.27	4.27	0.50696	Transforming growth factor-beta, C-terminal (3);	0.066311	0.64402	D	0.000011	D	0.94663	0.8279	M	0.91920	3.255	0.50632	D	0.999884	D	0.89917	1.0	D	0.87578	0.998	D	0.95477	0.8557	9	.	.	.	-14.9598	16.6692	0.85261	0.0:1.0:0.0:0.0	.	328	P55103	INHBC_HUMAN	F	328	ENSP00000308716:L328F	.	L	+	1	0	INHBC	56129995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.082000	0.50128	2.678000	0.91216	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	1	0	1	82	361	0	82	0	3.512873e-02	0	2	0	82	2		0	0	0	0	0	2	1	1	78	355	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLI1	2735	broad.mit.edu	37	12	57859671	57859671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57859671G>A	ENST00000228682.2	+	7	816	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y|GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1			69			GBM - Glioblastoma multiforme(3;3.99e-32)		TGGGATGGCTGCAGCCAGGAA	0.567000													Pancreas(157;841 1936 10503 41495 50368)											0							SO:0001583	missense			ENST00000228682.2	1	1	hg19	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589314	0.86851	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000022	D	0.98639	0.9544	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99453	1.0941	10	0.87932	D	0	.	16.3848	0.83501	0.0:0.0:1.0:0.0	.	242	P08151	GLI1_HUMAN	Y	114;114;242;201;201;114	ENSP00000436671:C114Y;ENSP00000437607:C114Y;ENSP00000228682:C242Y;ENSP00000441006:C201Y;ENSP00000434408:C201Y	ENSP00000228682:C242Y	C	+	2	0	GLI1	56145938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.561000	0.98142	2.478000	0.83669	0.591000	0.81541	TGC		TCGA-IB-7651-01A-11D-2154-08	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	1	70	279	0	74	1	9.929861e-01	2	31	0	74	2		0	0	0	0	0	2	1	1	68	274	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLI1	2735	broad.mit.edu	37	12	57860099	57860099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57860099G>T	ENST00000228682.2	+	8	930	c.839G>T	c.(838-840)aGg>aTg	p.R280M	GLI1_ENST00000543426.1_Missense_Mutation_p.R152M|GLI1_ENST00000546141.1_Missense_Mutation_p.R239M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1			69			GBM - Glioblastoma multiforme(3;3.99e-32)		AGGGAGCTGAGGCCCTTCAAA	0.602000													Pancreas(157;841 1936 10503 41495 50368)											0							SO:0001583	missense			ENST00000228682.2	1	1	hg19	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116063	0.77323	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;D;D;D;D	0.94092	0.54;-3.35;-3.35;-3.35;-3.35	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	D	0.95079	0.8406	L	0.49455	1.56	0.54753	D	0.999982	D	0.54397	0.966	D	0.66847	0.947	D	0.95639	0.8696	10	0.87932	D	0	.	15.6904	0.77446	0.0:0.0:1.0:0.0	.	280	P08151	GLI1_HUMAN	M	152;152;280;239;239;152	ENSP00000436671:R152M;ENSP00000437607:R152M;ENSP00000228682:R280M;ENSP00000441006:R239M;ENSP00000434408:R239M	ENSP00000228682:R280M	R	+	2	0	GLI1	56146366	0.997000	0.39634	1.000000	0.80357	0.866000	0.49608	2.340000	0.43974	2.295000	0.77249	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	1	156	616	0	167	1	9.959143e-01	2	33	0	167	2		0	0	0	0	0	2	1	1	155	601	0	161	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLI1	2735	broad.mit.edu	37	12	57864247	57864247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864247C>T	ENST00000228682.2	+	12	1815	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	GLI1_ENST00000543426.1_Missense_Mutation_p.A447V|GLI1_ENST00000546141.1_Missense_Mutation_p.A534V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1			69			GBM - Glioblastoma multiforme(3;3.99e-32)		GAGAATGGAGCATCCTCCCTG	0.632000													Pancreas(157;841 1936 10503 41495 50368)											0							SO:0001583	missense			ENST00000228682.2	1	1	hg19	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	9.677	1.148306	0.21288	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.14266	2.7;2.52;2.61;2.61	3.86	2.03	0.26663	.	0.476605	0.17850	N	0.159887	T	0.10208	0.0250	L	0.42245	1.32	0.32065	N	0.595215	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	10	0.41790	T	0.15	.	4.1612	0.10284	0.0:0.5937:0.1928:0.2135	.	575	P08151	GLI1_HUMAN	V	447;575;534;534	ENSP00000437607:A447V;ENSP00000228682:A575V;ENSP00000441006:A534V;ENSP00000434408:A534V	ENSP00000228682:A575V	A	+	2	0	GLI1	56150514	0.000000	0.05858	0.943000	0.38184	0.953000	0.61014	-0.088000	0.11198	0.596000	0.29794	0.491000	0.48974	GCA		TCGA-IB-7651-01A-11D-2154-08	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	1	77	406	0	101	1	9.314358e-01	2	24	0	101	2		0	0	0	0	0	2	1	1	76	394	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLI1	2735	broad.mit.edu	37	12	57864506	57864506	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864506C>A	ENST00000228682.2	+	12	2074	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	GLI1_ENST00000543426.1_Silent_p.G533G|GLI1_ENST00000546141.1_Silent_p.G620G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1			69			GBM - Glioblastoma multiforme(3;3.99e-32)		AGAGCCTGGGCTGTGTCCATA	0.607000													Pancreas(157;841 1936 10503 41495 50368)											0							SO:0001819	synonymous_variant			ENST00000228682.2	1	1	hg19	CCDS8940.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	1	0	1	38	147	0	51	0	9.881899e-01	0	30	0	51	2		0	0	0	0	0	2	1	1	38	143	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP9	64333	broad.mit.edu	37	12	57873102	57873102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57873102G>A	ENST00000356411.2	-	2	226	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L101F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9			30			GBM - Glioblastoma multiforme(3;3.37e-34)		AAGGCATAGAGGGCACAGAGC	0.592000																								0							SO:0001583	missense			ENST00000356411.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843155	0.71488	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.79	3.88	0.44766	Src homology-3 domain (4);	0.110363	0.41823	D	0.000814	T	0.79347	0.4430	M	0.89414	3.03	0.28020	N	0.934572	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.986;0.998;0.976;0.986	T	0.72121	-0.4386	10	0.54805	T	0.06	.	9.5783	0.39472	0.1051:0.0:0.8949:0.0	.	30;109;30;30;30	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	F	30;30;30;101;79	ENSP00000377380:L30F;ENSP00000348782:L30F;ENSP00000394307:L30F;ENSP00000377386:L101F	ENSP00000344852:L79F	L	-	1	0	ARHGAP9	56159369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.208000	0.58486	2.357000	0.79964	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0	44	427	0	95	0	3.183296e-01	0	12	0	95	2		0	0	0	0	0	2	1	1	43	417	0	92	2								-2.966611	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.820000	1.000000	1.000000	0.981491	0.990000	1	9.600000e-01	1
KIF5A	3798	broad.mit.edu	37	12	57968967	57968967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57968967G>A	ENST00000455537.2	+	16	2091	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A			62					AAGCGGTGCCGGCAGCTGGAG	0.572000																								0							SO:0001583	missense			ENST00000455537.2	1	1	hg19	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139318	0.56936	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85861	-2.04;-2.04	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.38838	1.175	0.49299	D	0.999772	B;B	0.22800	0.075;0.033	B;B	0.14578	0.011;0.011	T	0.72666	-0.4224	10	0.15952	T	0.53	.	16.5549	0.84482	0.0:0.0:1.0:0.0	.	517;606	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	606;517	ENSP00000408979:R606Q;ENSP00000286452:R517Q	ENSP00000286452:R517Q	R	+	2	0	KIF5A	56255234	0.972000	0.33761	1.000000	0.80357	0.992000	0.81027	1.429000	0.34903	2.504000	0.84457	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	1	0	1	26	104	0	28	0	3.555719e-01	1	5	0	28	2		0	0	0	0	0	2	1	1	26	101	0	27	2								-20.000000	1	1	121410	2	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
KIF5A	3798	broad.mit.edu	37	12	57969516	57969516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57969516G>A	ENST00000455537.2	+	17	2273	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A			62					CTTGAGCGATGAGCTGGCCAA	0.527000																								0							SO:0001583	missense			ENST00000455537.2	1	1	hg19	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416643	0.96092	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.84070	-1.8;-1.8	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.69823	2.125	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.58013	0.831;0.831	D	0.88780	0.3270	10	0.48119	T	0.1	.	16.2291	0.82321	0.0:0.0:1.0:0.0	.	578;667	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	667;578	ENSP00000408979:E667K;ENSP00000286452:E578K	ENSP00000286452:E578K	E	+	1	0	KIF5A	56255783	1.000000	0.71417	0.992000	0.48379	0.896000	0.52359	9.570000	0.98174	2.440000	0.82611	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	1	0	1	192	906	0	246	1	4.848100e-01	4	5	0	246	2		0	0	0	0	0	2	1	1	188	892	0	245	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIP4K2C	79837	broad.mit.edu	37	12	57994625	57994625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57994625G>T	ENST00000354947.5	+	8	861	c.845G>T	c.(844-846)aGc>aTc	p.S282I	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma			33	Melanoma(17;0.122)				ATGGACTACAGCCTTCTGCTA	0.552000																								0							SO:0001583	missense			ENST00000354947.5	1	1	hg19	CCDS8946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401154|4.401154	0.83120|0.83120	.|.	.|.	ENSG00000166908|ENSG00000166908	ENST00000548264|ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	.|T;T;T;T	.|0.75704	.|-0.96;-0.96;-0.96;-0.96	4.47|4.47	4.47|4.47	0.54385|0.54385	.|Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	.|0.042667	.|0.85682	.|D	.|0.000000	D|D	0.91855|0.91855	0.7422|0.7422	H|H	0.98866|0.98866	4.355|4.355	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.95073|0.95073	0.8206|0.8206	5|10	.|0.87932	.|D	.|0	-14.8145|-14.8145	16.433|16.433	0.83860|0.83860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|234;264;282	.|B4DM11;B4DY44;Q8TBX8	.|.;.;PI42C_HUMAN	S|I	90|234;282;264;282	.|ENSP00000412035:S234I;ENSP00000439878:S282I;ENSP00000447390:S264I;ENSP00000347032:S282I	.|ENSP00000347032:S282I	A|S	+|+	1|2	0|0	PIP4K2C|PIP4K2C	56280892|56280892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.089000|9.089000	0.94137|0.94137	2.480000|2.480000	0.83734|0.83734	0.555000|0.555000	0.69702|0.69702	GCC|AGC		TCGA-IB-7651-01A-11D-2154-08	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	0	0	1	293	1408	1	336	1	9.999999e-01	8	114	1	336	3		0	0	0	0	0	2	1	1	287	1391	1	333	18								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B4GALNT1	2583	broad.mit.edu	37	12	58021501	58021501	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58021501G>A	ENST00000341156.4	-	10	1868	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	B4GALNT1_ENST00000418555.2_Silent_p.G373G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1			20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)		TGACCACGCAGCCTGGGAAGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000341156.4	0	1	hg19	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418635	0.25552	.	.	ENSG00000135454	ENST00000547741	.	.	.	4.5	1.5	0.22942	.	.	.	.	.	T	0.52484	0.1737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41770	-0.9490	4	.	.	.	-12.4085	6.1097	0.20094	0.2443:0.1513:0.6043:0.0	.	.	.	.	V	111	.	.	A	-	2	0	B4GALNT1	56307768	1.000000	0.71417	0.942000	0.38095	0.965000	0.64279	3.843000	0.55865	0.502000	0.28037	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	0	0	0	8	124	0	22	0	4.975124e-03	0	2	0	22	2		0	0	0	0	0	2	1	9.883814e-01	8	119	0	21	2								-12.257870	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.750000	0.350000	1.000000	1.000000	0.756687	0.750000	0	5.300000e-01	1
B4GALNT1	2583	broad.mit.edu	37	12	58022910	58022910	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58022910T>G	ENST00000341156.4	-	7	1316	c.732A>C	c.(730-732)ggA>ggC	p.G244G	B4GALNT1_ENST00000418555.2_Silent_p.G189G|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1			20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)		CAGCCTCATGTCCCTCGGTGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000341156.4	1	1	hg19	CCDS8950.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	1	0	1	27	109	0	34	0	9.213569e-01	1	19	0	34	2		0	0	0	0	0	2	1	1	27	106	0	33	2								-18.187840	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
AGAP2	116986	broad.mit.edu	37	12	58126674	58126674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58126674C>T	ENST00000547588.1	-	6	1637	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	AGAP2_ENST00000257897.3_Silent_p.E210E	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2			48					TTGCACAAGTCTCATAGTAGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000547588.1	0	1	hg19	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	9.537	1.112330	0.20795	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.9	4.01	0.46588	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62374	-0.6868	4	.	.	.	.	12.5231	0.56072	0.0:0.9176:0.0:0.0824	.	.	.	.	N	410	.	.	D	-	1	0	AGAP2	56412941	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.496000	0.35638	1.444000	0.47605	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	0	0	0	23	1739	0	382	0	3.973082e-02	0	23	0	382	2		0	0	0	0	0	2	1	9.999991e-01	22	1710	0	378	2								-2.489491	0	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.150000	0.090000	1.000000	0.150000	0.214721	0.150000	0	1.200000e-01	2.000000e-01
CDK4	1019	broad.mit.edu	37	12	58144864	58144864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58144864G>A	ENST00000257904.6	-	4	729	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R2C|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4			21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		AGAAACTGGCGCATCAGATCC	0.473000			Mis			melanoma			Hereditary Melanoma					yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0							SO:0001583	missense	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	ENST00000257904.6	1	1	hg19	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879269	0.51801	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;1.97;1.97	4.76	1.31	0.21738	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.299629	0.31199	N	0.008063	T	0.45094	0.1325	L	0.47078	1.49	0.80722	D	1	D	0.65815	0.995	P	0.52758	0.708	T	0.38929	-0.9638	10	0.66056	D	0.02	.	4.5789	0.12248	0.2204:0.0:0.54:0.2396	.	122	P11802	CDK4_HUMAN	C	122;2;48;48;48;122;122	ENSP00000257904:R122C;ENSP00000439076:R2C;ENSP00000447779:R48C;ENSP00000447274:R48C;ENSP00000449391:R48C;ENSP00000449179:R122C;ENSP00000448963:R122C	ENSP00000257904:R122C	R	-	1	0	CDK4	56431131	0.174000	0.23070	1.000000	0.80357	0.969000	0.65631	0.397000	0.20883	0.541000	0.28827	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	1	0	1	91	317	0	70	1	1	89	322	0	70	2		0	0	0	0	0	2	1	1	88	309	0	70	2								-4.253611	1	1	121412	3	37	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK4	1019	broad.mit.edu	37	12	58145073	58145073	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58145073G>T	ENST00000257904.6	-	3	636	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4			21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		TCAAACACCAGGGTTACCTTG	0.532000			Mis			melanoma			Hereditary Melanoma					yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0							SO:0001583	missense	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	ENST00000257904.6	1	1	hg19	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235278	0.58886	.	.	ENSG00000135446	ENST00000257904;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;1.69;1.69;1.69	4.92	3.03	0.35002	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.56863	0.2014	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57300	-0.7835	10	0.72032	D	0.01	.	3.6756	0.08291	0.2819:0.0:0.5468:0.1713	.	91	P11802	CDK4_HUMAN	M	91;17;17;17;91;91;91	ENSP00000257904:L91M;ENSP00000447779:L17M;ENSP00000447274:L17M;ENSP00000449391:L17M;ENSP00000449179:L91M;ENSP00000448963:L91M;ENSP00000446763:L91M	ENSP00000257904:L91M	L	-	1	2	CDK4	56431340	0.971000	0.33674	1.000000	0.80357	0.982000	0.71751	1.644000	0.37228	0.741000	0.32674	-0.253000	0.11424	CTG		TCGA-IB-7651-01A-11D-2154-08	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	1	0	1	118	525	0	119	1	1	118	394	0	119	2		0	0	0	0	0	2	1	1	116	508	0	119	2								-2.579033	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARCH9	92979	broad.mit.edu	37	12	58151910	58151910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58151910C>T	ENST00000266643.5	+	3	964	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9			4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		ATCTCCCTGACGGTCATCGAG	0.597000																								0							SO:0001583	missense			ENST00000266643.5	1	1	hg19	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846206	0.71603	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.60920	0.15;0.15	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.80616	2.505	0.80722	D	1	D;D	0.65815	0.99;0.995	P;P	0.54060	0.733;0.741	T	0.76966	-0.2763	10	0.87932	D	0	.	18.1173	0.89561	0.0:1.0:0.0:0.0	.	65;178	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	M	178;65	ENSP00000266643:T178M;ENSP00000446758:T65M	ENSP00000266643:T178M	T	+	2	0	MARCH9	56438177	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.929000	0.70096	2.810000	0.96702	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	1	0	1	55	260	0	77	1	9.999935e-01	15	71	0	77	2		0	0	0	0	0	2	1	1	55	251	0	75	2								-3.286772	1	1	121412	1	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AVIL	10677	broad.mit.edu	37	12	58197168	58197168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58197168C>A	ENST00000257861.3	-	15	2254	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	TSFM_ENST00000548851.1_Intron|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000537081.1_Missense_Mutation_p.Q601H|AVIL_ENST00000550083.1_5'UTR|RNU6-1083P_ENST00000384022.1_RNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin			32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)				GGATTTCCTGCTGAAGTCTGC	0.438000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000257861.3	1	1	hg19	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941317	0.34283	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.42900	0.96;0.96	5.13	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.88031	2.925	0.47737	D	0.999508	D;D	0.67145	0.989;0.996	D;D	0.65233	0.914;0.933	T	0.66333	-0.5950	10	0.66056	D	0.02	-12.0731	7.8909	0.29677	0.0:0.6981:0.1633:0.1386	.	601;608	O75366-2;O75366	.;AVIL_HUMAN	H	601;608	ENSP00000443207:Q601H;ENSP00000257861:Q608H	ENSP00000257861:Q608H	Q	-	3	2	AVIL	56483435	1.000000	0.71417	0.992000	0.48379	0.001000	0.01503	3.164000	0.50770	1.123000	0.41961	-0.305000	0.09177	CAG		TCGA-IB-7651-01A-11D-2154-08	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	0	0	0	26	795	0	156	0	1.518208e-02	0	6	0	156	2		0	0	0	0	0	2	1	9.999999e-01	26	782	0	152	2								-3.306049	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.380000	0.250000	1.000000	0.370000	0.425847	0.380000	0	3.100000e-01	4.800000e-01
AVIL	10677	broad.mit.edu	37	12	58200264	58200264	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58200264A>G	ENST00000257861.3	-	13	1980	c.1550T>C	c.(1549-1551)aTt>aCt	p.I517T	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000537081.1_Missense_Mutation_p.I510T|RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin			32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)				ATTTCCATGAATTTGGAAGAG	0.488000																								0							SO:0001583	missense			ENST00000257861.3	1	1	hg19	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559012	0.65538	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.20881	2.04;2.04	5.16	5.16	0.70880	.	0.173912	0.51477	D	0.000093	T	0.28466	0.0704	M	0.62088	1.915	0.54753	D	0.99998	P;P	0.45672	0.523;0.864	B;B	0.43950	0.356;0.437	T	0.06661	-1.0814	10	0.87932	D	0	-18.9385	14.0909	0.64990	1.0:0.0:0.0:0.0	.	510;517	O75366-2;O75366	.;AVIL_HUMAN	T	510;517	ENSP00000443207:I510T;ENSP00000257861:I517T	ENSP00000257861:I517T	I	-	2	0	AVIL	56486531	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.062000	0.93920	2.165000	0.68154	0.459000	0.35465	ATT		TCGA-IB-7651-01A-11D-2154-08	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	1	0	0	30	313	0	52	0	9.633459e-02	0	6	0	52	2		0	0	0	0	0	2	1	1	29	304	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.720000	1.000000	1.000000	0.954826	0.990000	1	8.700000e-01	1
AVIL	10677	broad.mit.edu	37	12	58203397	58203397	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58203397C>A	ENST00000257861.3	-	8	1352	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	AVIL_ENST00000537081.1_Missense_Mutation_p.A301S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin			32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)				TTAGACATGGCTGCCTGTTTT	0.473000																								0							SO:0001583	missense			ENST00000257861.3	1	1	hg19	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045982	0.93685	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.59638	0.25;0.25	4.75	4.75	0.60458	Gelsolin domain (1);	0.104999	0.64402	D	0.000005	T	0.71745	0.3376	M	0.74467	2.265	0.80722	D	1	P;P	0.50819	0.939;0.903	P;P	0.55999	0.721;0.789	T	0.75941	-0.3140	10	0.72032	D	0.01	-13.5395	17.0043	0.86388	0.0:1.0:0.0:0.0	.	301;308	O75366-2;O75366	.;AVIL_HUMAN	S	301;308	ENSP00000443207:A301S;ENSP00000257861:A308S	ENSP00000257861:A308S	A	-	1	0	AVIL	56489664	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.512000	0.81728	2.619000	0.88677	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	1	0	1	80	308	0	81	0	2.789865e-01	0	5	0	81	2		0	0	0	0	0	2	1	1	79	305	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTDSP2	10106	broad.mit.edu	37	12	58223343	58223343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58223343C>T	ENST00000398073.2	-	2	404	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2			7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)				GATGTTACGTCCACGAGGCTT	0.517000																								0							SO:0001583	missense			ENST00000398073.2	1	1	hg19	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567575	0.86439	.	.	ENSG00000175215	ENST00000398073;ENST00000548823	T;T	0.21932	2.38;1.98	4.68	4.68	0.58851	.	0.049788	0.85682	D	0.000000	T	0.31888	0.0811	L	0.34521	1.04	0.80722	D	1	D;B	0.89917	1.0;0.01	D;B	0.97110	1.0;0.01	T	0.01858	-1.1259	10	0.07482	T	0.82	-16.9848	16.8584	0.86011	0.0:1.0:0.0:0.0	.	34;34	F8W1I1;O14595	.;CTDS2_HUMAN	E	34	ENSP00000381148:G34E;ENSP00000447046:G34E	ENSP00000381148:G34E	G	-	2	0	CTDSP2	56509610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.984000	0.63838	2.592000	0.87571	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	1	0	0	48	468	0	92	1	9.999955e-01	8	168	0	92	2		0	0	0	0	0	2	1	1	48	460	0	92	2								-3.221883	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.830000	1.000000	1.000000	0.982250	0.990000	1	9.600000e-01	1
XRCC6BP1	91419	broad.mit.edu	37	12	58335665	58335665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58335665G>A	ENST00000300145.3	+	1	306	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1			11					GAAGACGCTGGAGACAAGTAG	0.617000																								0							SO:0001583	missense			ENST00000300145.3	1	1	hg19	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138802	0.56936	.	.	ENSG00000166896	ENST00000300145	T	0.41758	0.99	4.84	-0.808	0.10868	Metallopeptidase, catalytic domain (1);	0.745417	0.13537	N	0.380492	T	0.19287	0.0463	N	0.11064	0.09	0.32488	N	0.54066	B	0.16603	0.018	B	0.18871	0.023	T	0.43294	-0.9400	10	0.02654	T	1	.	12.3052	0.54898	0.0685:0.5094:0.4221:0.0	.	61	Q9Y6H3	ATP23_HUMAN	K	61	ENSP00000300145:E61K	ENSP00000300145:E61K	E	+	1	0	XRCC6BP1	56621932	0.998000	0.40836	0.129000	0.21949	0.864000	0.49448	1.468000	0.35332	-0.253000	0.09514	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	1	0	1	30	122	0	29	1	7.580516e-01	3	10	0	29	2		0	0	0	0	0	2	1	1	30	119	0	29	2								-3.376822	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ANO2	57101	broad.mit.edu	37	12	5841705	5841705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5841705G>A	ENST00000356134.5	-	16	1600	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	ANO2_ENST00000546188.1_Missense_Mutation_p.T510M|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.T509M	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel			58					ACACTCCGTCGTGTTTGTTTC	0.458000																								0							SO:0001583	missense			ENST00000356134.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.554	0.470520	0.12461	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.62	-3.57	0.04612	.	1.022950	0.07770	N	0.951566	T	0.35653	0.0939	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.13415	-1.0510	10	0.30854	T	0.27	.	1.7965	0.03062	0.3634:0.1684:0.3517:0.1165	.	509	Q9NQ90-3	.	M	509;510;510;514;69	ENSP00000314048:T509M;ENSP00000348453:T510M;ENSP00000440981:T510M;ENSP00000443813:T69M	ENSP00000314048:T509M	T	-	2	0	ANO2	5711966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.636000	0.05465	-0.560000	0.06102	-0.119000	0.15052	ACG		TCGA-IB-7651-01A-11D-2154-08	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	1	0	1	34	187	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	34	185	0	40	2								-17.892570	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999868	0.990000	1	9.900000e-01	1
LRIG3	121227	broad.mit.edu	37	12	59277343	59277343	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59277343T>C	ENST00000320743.3	-	11	1561	c.1275A>G	c.(1273-1275)ttA>ttG	p.L425L	LRIG3_ENST00000379141.4_Silent_p.L365L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3		LRIG3/ROS1(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)		CATTGCCTTGTAAAGACATGA	0.383000			T	ROS1	NSCLC										Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0							SO:0001819	synonymous_variant			ENST00000320743.3	1	1	hg19	CCDS8960.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	1	0	1	47	268	0	59	1	9.999334e-01	14	70	0	59	2		0	0	0	0	0	2	1	1	47	263	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
LRIG3	121227	broad.mit.edu	37	12	59283900	59283900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59283900G>A	ENST00000320743.3	-	5	823	c.537C>T	c.(535-537)gtC>gtT	p.V179V	LRIG3_ENST00000379141.4_Silent_p.V119V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3		LRIG3/ROS1(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)		CCATTGATGTGACTCGGTTGC	0.413000			T	ROS1	NSCLC										Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0							SO:0001819	synonymous_variant			ENST00000320743.3	1	1	hg19	CCDS8960.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	1	0	1	190	787	0	164	1	9.999999e-01	24	67	0	164	2		0	0	0	0	0	2	1	1	183	761	0	161	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRIG3	121227	broad.mit.edu	37	12	59284508	59284508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59284508G>A	ENST00000320743.3	-	4	740	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3		LRIG3/ROS1(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)		TTGCTGCTAAGGTCCAAAGTT	0.383000			T	ROS1	NSCLC										Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0							SO:0001583	missense			ENST00000320743.3	1	1	hg19	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678552	0.68042	.	.	ENSG00000139263	ENST00000379141;ENST00000320743;ENST00000552267	T;T;T	0.30448	1.53;1.53;1.53	5.87	2.87	0.33458	.	0.000000	0.30085	N	0.010459	T	0.59348	0.2187	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.61535	-0.7043	9	.	.	.	.	8.8768	0.35350	0.4056:0.0:0.5944:0.0	.	92;152	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	92;152;59	ENSP00000368436:L92F;ENSP00000326759:L152F;ENSP00000449109:L59F	.	L	-	1	0	LRIG3	57570775	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.359000	0.44142	0.388000	0.25054	-0.302000	0.09304	CTT		TCGA-IB-7651-01A-11D-2154-08	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	1	0	1	46	160	0	58	1	1	31	71	0	58	2		0	0	0	0	0	2	1	1	45	158	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO2	57101	broad.mit.edu	37	12	5941725	5941725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5941725G>A	ENST00000356134.5	-	6	740	c.669C>T	c.(667-669)agC>agT	p.S223S	ANO2_ENST00000546188.1_Silent_p.S223S|ANO2_ENST00000327087.8_Silent_p.S222S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel			58					GCAGAGCCGCGCTGAACTTCT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000356134.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	1	0	0	48	167	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	47	163	0	35	2								-20.000000	1	1	121090	1	27	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC16A7	9194	broad.mit.edu	37	12	60169243	60169243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:60169243C>T	ENST00000261187.4	+	4	1331	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552432.1_Silent_p.G389G|SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000552024.1_Silent_p.G389G	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7			30				Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTCTTCTTGGCCCTCCTCTTG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000261187.4	1	1	hg19	CCDS8961.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	1	0	1	48	304	0	60	0	5.071077e-01	0	12	0	60	2		0	0	0	0	0	2	1	1	48	296	0	60	2								-19.970710	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
ANO2	57101	broad.mit.edu	37	12	6030260	6030260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6030260C>A	ENST00000356134.5	-	3	539	c.468G>T	c.(466-468)gaG>gaT	p.E156D	ANO2_ENST00000546188.1_Missense_Mutation_p.E156D|ANO2_ENST00000327087.8_Missense_Mutation_p.E156D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel			58					GCTCAAATTCCTCCCGCTGCT	0.607000																								0							SO:0001583	missense			ENST00000356134.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.92	1.487384	0.26686	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.67171	-0.25;-0.25;-0.25	4.84	0.727	0.18254	.	0.233174	0.36591	N	0.002519	T	0.45696	0.1355	L	0.29908	0.895	0.38548	D	0.949394	B	0.16603	0.018	B	0.20184	0.028	T	0.18023	-1.0350	10	0.41790	T	0.15	.	1.6431	0.02756	0.1484:0.4665:0.1359:0.2493	.	156	Q9NQ90-3	.	D	156;156;156;160	ENSP00000314048:E156D;ENSP00000348453:E156D;ENSP00000440981:E156D	ENSP00000314048:E156D	E	-	3	2	ANO2	5900521	0.879000	0.30193	0.996000	0.52242	0.849000	0.48306	-0.160000	0.10041	-0.157000	0.11059	-0.253000	0.11424	GAG		TCGA-IB-7651-01A-11D-2154-08	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	1	0	1	57	266	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	54	257	0	85	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VWF	7450	broad.mit.edu	37	12	6125267	6125267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6125267C>T	ENST00000261405.5	-	31	5697	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor			129				Antihemophilic Factor(DB00025)	TTGGACCTGGCGGCATCAGCT	0.522000																								0							SO:0001583	missense			ENST00000261405.5	0	1	hg19	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.041065	0.75732	.	.	ENSG00000110799	ENST00000261405	T	0.80304	-1.36	5.11	5.11	0.69529	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000471	D	0.91274	0.7249	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92962	0.6390	10	0.87932	D	0	.	17.1259	0.86714	0.0:1.0:0.0:0.0	.	1815	P04275	VWF_HUMAN	T	1815	ENSP00000261405:A1815T	ENSP00000261405:A1815T	A	-	1	0	VWF	5995528	1.000000	0.71417	0.935000	0.37517	0.592000	0.36648	5.488000	0.66869	2.374000	0.81015	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	0	0	0	41	194	1	52	0	9.999786e-01	0	271	1	52	17		0	0	0	0	0	2	1	9.998819e-01	34	177	1	52	14								-3.051393	1	1	121412	1	26	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
VWF	7450	broad.mit.edu	37	12	6128448	6128448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6128448C>T	ENST00000261405.5	-	28	4390	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor			129				Antihemophilic Factor(DB00025)	CAGGGTGATGCGGGAGGCTTC	0.577000																								0							SO:0001583	missense			ENST00000261405.5	1	1	hg19	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575938	0.45902	.	.	ENSG00000110799	ENST00000261405	D	0.83419	-1.72	4.98	3.13	0.36017	von Willebrand factor, type A (3);	0.328267	0.22298	N	0.061915	D	0.82852	0.5127	M	0.86420	2.815	0.28777	N	0.90008	B	0.32350	0.366	B	0.34536	0.185	T	0.77752	-0.2470	10	0.52906	T	0.07	.	6.7007	0.23223	0.0:0.6382:0.0:0.3618	.	1379	P04275	VWF_HUMAN	H	1379	ENSP00000261405:R1379H	ENSP00000261405:R1379H	R	-	2	0	VWF	5998709	0.991000	0.36638	0.371000	0.25978	0.644000	0.38419	2.269000	0.43346	0.683000	0.31428	-0.300000	0.09419	CGC		TCGA-IB-7651-01A-11D-2154-08	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	1	0	1	63	443	0	91	0	1	0	274	0	91	2		0	0	0	0	0	2	1	1	63	432	0	92	2								-3.221885	1	1	121400	2	36	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999859	0.990000	1	9.900000e-01	1
USP15	9958	broad.mit.edu	37	12	62696619	62696619	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62696619A>G	ENST00000280377.5	+	3	324	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000393654.3_Missense_Mutation_p.Y89C|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15			37			GBM - Glioblastoma multiforme(1;0.000276)		GAATTGGATTACATACTGTTG	0.363000													Melanoma(181;615 2041 39364 49691 50001)											0							SO:0001583	missense			ENST00000280377.5	1	1	hg19	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.651365|4.651365	0.88056|0.88056	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000549237|ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836	.|T;T;T	.|0.32272	.|1.47;1.6;1.46	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	.|0.062437	.|0.64402	.|D	.|0.000003	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0;1.0	T|T	0.71656|0.71656	-0.4527|-0.4527	5|9	.|.	.|.	.|.	-8.6905|-8.6905	15.9922|15.9922	0.80214|0.80214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|89;89;89;89;89	.|B7Z3J0;B4DN46;Q9Y4E8;Q9Y4E8-2;Q9H8G9	.|.;.;UBP15_HUMAN;.;.	A|C	85|89;89;89;89;89;35	.|ENSP00000258123:Y89C;ENSP00000280377:Y89C;ENSP00000377264:Y89C	.|.	T|Y	+|+	1|2	0|0	USP15|USP15	60982886|60982886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.284000|9.284000	0.95882|0.95882	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	ACA|TAC		TCGA-IB-7651-01A-11D-2154-08	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	1	0	1	93	395	0	80	1	9.999754e-01	17	50	0	80	2		0	0	0	0	0	2	1	1	92	391	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP15	9958	broad.mit.edu	37	12	62775384	62775384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62775384C>T	ENST00000280377.5	+	9	1087	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	USP15_ENST00000393654.3_Silent_p.A318A|USP15_ENST00000353364.3_Silent_p.A314A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15			37			GBM - Glioblastoma multiforme(1;0.000276)		AATCTTATGCCGAACTGATCA	0.403000													Melanoma(181;615 2041 39364 49691 50001)											0							SO:0001819	synonymous_variant			ENST00000280377.5	1	1	hg19	CCDS58251.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	1	0	1	68	282	0	106	1	1	21	100	0	106	2		0	0	0	0	0	2	1	1	67	280	0	106	2								-2.923430	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP15	9958	broad.mit.edu	37	12	62777738	62777738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62777738C>T	ENST00000280377.5	+	10	1265	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	USP15_ENST00000393654.3_Missense_Mutation_p.P378S|USP15_ENST00000353364.3_Missense_Mutation_p.P374S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15			37			GBM - Glioblastoma multiforme(1;0.000276)		TAGGAAAAAACCATATATACA	0.338000													Melanoma(181;615 2041 39364 49691 50001)											0							SO:0001583	missense			ENST00000280377.5	1	1	hg19	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270563	0.80469	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.29655	4.18;4.18;1.56	5.4	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.055071	0.85682	D	0.000000	T	0.54631	0.1870	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.57081	-0.7872	9	.	.	.	-8.9265	15.6864	0.77415	0.1379:0.8621:0.0:0.0	.	403;374	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	374;403;378	ENSP00000258123:P374S;ENSP00000280377:P403S;ENSP00000377264:P378S	.	P	+	1	0	USP15	61064005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.493000	0.48517	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	1	0	1	50	267	0	49	1	9.999507e-01	18	63	0	49	2		0	0	0	0	0	2	1	1	48	255	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MON2	23041	broad.mit.edu	37	12	62861091	62861091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62861091T>G	ENST00000393632.2	+	1	495	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000393630.3_Missense_Mutation_p.V35G|MON2_ENST00000552738.1_Missense_Mutation_p.V35G	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)			57			BRCA - Breast invasive adenocarcinoma(9;0.218)		TTCCCACCTGTCAAAGAGGTA	0.542000																								0							SO:0001583	missense			ENST00000393632.2	1	1	hg19	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	31	5.103451	0.94245	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66815	-0.23;-0.22;-0.23;-0.23;-0.22;-0.23;-0.2	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.76575	0.961;0.983;0.983;0.988	T	0.81688	-0.0819	9	.	.	.	-9.4158	14.8857	0.70567	0.0:0.0:0.0:1.0	.	35;35;35;35	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	G	35	ENSP00000377252:V35G;ENSP00000377250:V35G;ENSP00000280379:V35G;ENSP00000447407:V35G;ENSP00000449215:V35G;ENSP00000377249:V35G;ENSP00000446635:V35G	.	V	+	2	0	MON2	61147358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.157000	0.77461	2.206000	0.71126	0.528000	0.53228	GTC		TCGA-IB-7651-01A-11D-2154-08	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	1	0	1	78	326	0	76	1	9.895212e-01	11	21	0	76	2		0	0	0	0	0	2	1	1	78	321	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPM1H	57460	broad.mit.edu	37	12	63195669	63195669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63195669C>T	ENST00000228705.6	-	3	983	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H			18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)		GGTAAAGAAGCGTGTGGGGGG	0.642000																								0							SO:0001583	missense			ENST00000228705.6	1	1	hg19	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295048	0.81025	.	.	ENSG00000111110	ENST00000228705	T	0.25579	1.79	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.51220	-0.8733	9	.	.	.	4.0024	17.2574	0.87061	0.0:1.0:0.0:0.0	.	228	Q9ULR3	PPM1H_HUMAN	H	228	ENSP00000228705:R228H	.	R	-	2	0	PPM1H	61481936	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.050000	0.76620	2.124000	0.65301	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	1	0	0	29	345	0	48	1	1.031552e-01	2	5	0	48	2		0	0	0	0	0	2	1	1	28	340	0	48	2								-3.221884	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.930000	0.630000	1.000000	1.000000	0.901782	0.930000	1	7.700000e-01	1
CD9	928	broad.mit.edu	37	12	6334663	6334663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6334663G>A	ENST00000382518.1	+	3	574	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CD9_ENST00000382515.2_5'UTR|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000009180.4_Silent_p.E46E			P21926	CD9_HUMAN	CD9 molecule			8					GCATCTTCGAGCAAGAAACTA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000382518.1	1	1	hg19	CCDS8540.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1	1	0	0	74	288	0	50	1	1	256	907	0	50	2		0	0	0	0	0	2	1	1	74	278	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AVPR1A	552	broad.mit.edu	37	12	63544452	63544452	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63544452G>A	ENST00000299178.2	-	1	270	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A			26			BRCA - Breast invasive adenocarcinoma(9;0.193)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCAGCACGGCGATCTCCAGTT	0.697000																								0							SO:0001819	synonymous_variant			ENST00000299178.2	1	1	hg19	CCDS8965.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1	1	0	1	58	273	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	1	57	273	0	65	2								-3.383573	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPY19L2	283417	broad.mit.edu	37	12	64038261	64038261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64038261G>A	ENST00000324472.4	-	6	908	c.725C>T	c.(724-726)gCt>gTt	p.A242V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)			45			GBM - Glioblastoma multiforme(1;2.77e-05)		ATAAAAGCAAGCAGGATCTCC	0.343000																								0							SO:0001583	missense			ENST00000324472.4	0	1	hg19	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750837	0.31046	.	.	ENSG00000177990	ENST00000324472	T	0.53206	0.63	2.36	2.36	0.29203	.	0.000000	0.85682	U	0.000000	T	0.40067	0.1102	L	0.47078	1.49	0.80722	D	1	P	0.37370	0.592	B	0.41174	0.349	T	0.16719	-1.0393	9	.	.	.	.	8.2359	0.31625	0.0:0.0:1.0:0.0	.	242	Q6NUT2	D19L2_HUMAN	V	242	ENSP00000315988:A242V	.	A	-	2	0	DPY19L2	62324528	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.025000	0.70864	1.318000	0.45170	0.194000	0.17425	GCT		TCGA-IB-7651-01A-11D-2154-08	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	0	0	0	27	147	0	49	0	6.941102e-02	0	3	0	49	2		0	0	0	0	0	2	1	9.999986e-01	20	105	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
PLEKHG6	55200	broad.mit.edu	37	12	6424222	6424222	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6424222T>C	ENST00000396988.3	+	4	576	c.346T>C	c.(346-348)Ttt>Ctt	p.F116L	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.F84L|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6			23					TTTCAGCATGTTTGGGATGCC	0.632000																								0							SO:0001583	missense			ENST00000396988.3	1	1	hg19	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834600	0.91036	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.68765	-0.24;-0.19;-0.24;-0.35	5.0	5.0	0.66597	.	0.000000	0.51477	D	0.000090	T	0.80008	0.4545	M	0.78049	2.395	0.80722	D	1	D;D;D	0.65815	0.995;0.992;0.993	D;D;D	0.72625	0.96;0.953;0.978	T	0.81876	-0.0731	10	0.62326	D	0.03	-15.716	11.008	0.47646	0.0:0.0:0.0:1.0	.	84;116;116	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	L	116;116;116;84	ENSP00000011684:F116L;ENSP00000442836:F116L;ENSP00000380185:F116L;ENSP00000393194:F84L	ENSP00000011684:F116L	F	+	1	0	PLEKHG6	6294483	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.189000	0.65098	2.101000	0.63845	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	1	0	1	70	479	0	112	1	9.769230e-01	17	26	0	112	2		0	0	0	0	0	2	1	1	70	463	0	110	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
TNFRSF1A	7132	broad.mit.edu	37	12	6438717	6438717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6438717G>A	ENST00000162749.2	-	10	1428	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A			19					AGCCCTAGGCGCCGCACGAAT	0.701000																								0							SO:0001583	missense			ENST00000162749.2	1	1	hg19	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341803	0.81911	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.85773	-2.03;-2.03	4.88	3.97	0.46021	Death (3);DEATH-like (2);	0.519751	0.21185	N	0.078750	D	0.89969	0.6869	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.938;0.973	D	0.88600	0.3149	10	0.41790	T	0.15	-18.7777	11.7065	0.51599	0.0893:0.0:0.9107:0.0	.	334;377	F5H061;P19438	.;TNR1A_HUMAN	C	377;334	ENSP00000162749:R377C;ENSP00000438343:R334C	ENSP00000162749:R377C	R	-	1	0	TNFRSF1A	6308978	1.000000	0.71417	0.746000	0.31095	0.990000	0.78478	3.202000	0.51067	1.138000	0.42230	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	1	0	0	17	87	0	25	1	1	35	231	0	25	2		0	0	0	0	0	2	1	9.999712e-01	17	83	0	24	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.997868	0.990000	1	9.900000e-01	1
TNFRSF1A	7132	broad.mit.edu	37	12	6442635	6442635	+	Missense_Mutation	SNP	C	C	T	rs104895278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6442635C>T	ENST00000162749.2	-	4	669	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A			19					CAGCCACACACGGTGTCCCGG	0.547000																								0		GRCh37	CM065492	TNFRSF1A	M	rs104895278	SO:0001583	missense			ENST00000162749.2	1	1	hg19	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686207	0.68157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.06	4.14	0.48551	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.203911	0.42053	D	0.000770	D	0.95999	0.8697	M	0.79475	2.455	0.41995	D	0.990861	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70487	0.969;0.917;0.961	D	0.95675	0.8727	10	0.51188	T	0.08	-12.9729	13.0176	0.58766	0.0:0.8363:0.1637:0.0	.	124;81;124	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	M	124;81;124;124;124;115	ENSP00000162749:V124M;ENSP00000438343:V81M;ENSP00000442059:V124M;ENSP00000380389:V124M;ENSP00000413224:V124M;ENSP00000442919:V115M	ENSP00000162749:V124M	V	-	1	0	TNFRSF1A	6312896	0.401000	0.25303	0.637000	0.29366	0.931000	0.56810	3.042000	0.49815	1.077000	0.40990	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	1	0	1	33	155	0	25	1	1	213	624	0	25	2		0	0	0	0	0	2	1	1	32	152	0	25	2								-20.000000	1	1	121412	32	44	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
SRGAP1	57522	broad.mit.edu	37	12	64456834	64456834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64456834C>T	ENST00000355086.3	+	7	1463	c.939C>T	c.(937-939)agC>agT	p.S313S	SRGAP1_ENST00000357825.3_Silent_p.S313S|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S273S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1			65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)		AGCCCAGGAGCGATAAGCAGA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000355086.3	1	1	hg19	CCDS8967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	1	0	0	71	305	0	77	1	9.532450e-01	6	18	0	77	2		0	0	0	0	0	2	1	1	70	299	0	76	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRGAP1	57522	broad.mit.edu	37	12	64474125	64474125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64474125C>A	ENST00000355086.3	+	10	1907	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D461E|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1			65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)		CCAAACATGACTTGCTGCAGA	0.358000																								0							SO:0001583	missense			ENST00000355086.3	1	1	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822365	0.50739	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.18657	3.12;2.79;2.2	4.32	3.44	0.39384	.	0.000000	0.36815	U	0.002397	T	0.20292	0.0488	N	0.17764	0.52	0.54753	D	0.999988	P;B;B	0.47545	0.897;0.168;0.429	P;B;B	0.54924	0.764;0.192;0.263	T	0.02464	-1.1155	9	.	.	.	.	8.0206	0.30406	0.0:0.7507:0.0:0.2493	.	461;421;461	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	E	461;461;421	ENSP00000347198:D461E;ENSP00000350480:D461E;ENSP00000437948:D421E	.	D	+	3	2	SRGAP1	62760392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.348000	0.33987	1.421000	0.47157	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	0	0	0	8	215	0	40	0	1.647557e-01	0	18	0	40	2		0	0	0	0	0	2	1	9.878736e-01	8	206	0	40	2								-9.851454	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.450000	0.210000	1.000000	0.410000	0.498198	0.450000	0	3.100000e-01	6.600000e-01
SRGAP1	57522	broad.mit.edu	37	12	64485152	64485152	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64485152C>T	ENST00000355086.3	+	12	2057	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1			65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)		TGGAAACATTCGTCAAGGTAC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000355086.3	1	1	hg19	CCDS8967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	1	0	1	38	190	0	63	0	2.031829e-01	1	4	0	63	2		0	0	0	0	0	2	1	1	38	185	0	62	2								-19.928480	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SRGAP1	57522	broad.mit.edu	37	12	64521459	64521459	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64521459A>G	ENST00000355086.3	+	20	3019	c.2495A>G	c.(2494-2496)gAc>gGc	p.D832G	SRGAP1_ENST00000357825.3_Missense_Mutation_p.D809G|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1			65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)		TCATCCAAGGACATGAACTCC	0.557000																								0							SO:0001583	missense			ENST00000355086.3	0	1	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307441	0.40795	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.19105	3.19;2.75;2.17	5.46	5.46	0.80206	Src homology-3 domain (1);	0.000000	0.36815	U	0.002397	T	0.14356	0.0347	N	0.17474	0.49	0.58432	D	0.999999	B;B	0.10296	0.0;0.003	B;B	0.12837	0.002;0.008	T	0.10451	-1.0629	9	.	.	.	.	15.825	0.78698	1.0:0.0:0.0:0.0	.	832;769	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	G	832;809;769	ENSP00000347198:D832G;ENSP00000350480:D809G;ENSP00000437948:D769G	.	D	+	2	0	SRGAP1	62807726	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.167000	0.77562	2.198000	0.70561	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	0	0	0	6	217	0	38	0	2.190979e-01	0	28	0	38	2		0	0	0	0	0	2	1	9.620060e-01	5	211	0	38	2								-7.703348	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.350000	0.140000	1.000000	0.310000	0.401889	0.350000	0	2.200000e-01	5.400000e-01
SRGAP1	57522	broad.mit.edu	37	12	64536219	64536219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536219C>A	ENST00000355086.3	+	22	3549	c.3025C>A	c.(3025-3027)Ctc>Atc	p.L1009I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1			65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)		CACGGAATCTCTCAGCCCTTT	0.547000																								0							SO:0001583	missense			ENST00000355086.3	1	1	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130120	0.37630	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.34072	1.38;1.38;1.38	6.04	4.22	0.49857	.	0.269262	0.18965	U	0.126300	T	0.29817	0.0745	L	0.50333	1.59	0.47407	D	0.999413	P;B	0.37330	0.59;0.321	B;B	0.34590	0.186;0.086	T	0.03259	-1.1055	9	.	.	.	.	8.9068	0.35528	0.0:0.7426:0.1247:0.1326	.	1009;946	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	I	1009;986;946	ENSP00000347198:L1009I;ENSP00000350480:L986I;ENSP00000437948:L946I	.	L	+	1	0	SRGAP1	62822486	0.974000	0.33945	0.925000	0.36789	0.009000	0.06853	2.468000	0.45102	0.883000	0.36040	-0.302000	0.09304	CTC		TCGA-IB-7651-01A-11D-2154-08	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	0	0	0	12	344	0	77	0	2.048820e-01	0	23	0	77	2		0	0	0	0	0	2	1	9.988422e-01	11	327	0	74	2								-12.248510	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.410000	0.220000	1.000000	0.390000	0.461484	0.410000	0	3.000000e-01	5.800000e-01
SRGAP1	57522	broad.mit.edu	37	12	64536230	64536230	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536230G>A	ENST00000355086.3	+	22	3560	c.3036G>A	c.(3034-3036)ttG>ttA	p.L1012L	SRGAP1_ENST00000357825.3_Silent_p.L989L|SRGAP1_ENST00000543397.1_Silent_p.L949L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1			65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)		TCAGCCCTTTGCACAACGTTG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000355086.3	1	1	hg19	CCDS8967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	1	0	0	63	296	0	78	1	9.441626e-01	7	18	0	78	2		0	0	0	0	0	2	1	1	57	287	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457292C>T	ENST00000228916.2	-	13	1855	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit			27				Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622000																								0							SO:0001583	missense			ENST00000228916.2	1	1	hg19	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563445	0.45694	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.72615	-0.63;-0.67;-0.42;-0.63;-0.62	4.54	3.62	0.41486	.	0.121926	0.37178	N	0.002204	T	0.60051	0.2239	L	0.58669	1.825	0.27237	N	0.959242	D;P;B	0.52996	0.957;0.858;0.414	B;B;B	0.36378	0.223;0.163;0.084	T	0.56141	-0.8028	10	0.35671	T	0.21	-15.5739	10.7741	0.46340	0.0:0.9035:0.0:0.0965	.	609;586;645	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	645;608;286;586;609	ENSP00000353292:R645Q;ENSP00000351825:R608Q;ENSP00000440876:R286Q;ENSP00000228916:R586Q;ENSP00000438739:R609Q	ENSP00000228916:R586Q	R	-	2	0	SCNN1A	6327553	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	1.091000	0.30915	0.879000	0.35944	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1	0	0	1	14	221	0	69	1	9.994012e-01	29	173	0	69	2		0	0	0	0	0	2	1	9.997528e-01	14	217	0	68	2								-17.185280	1	1	121412	4	37	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.680000	0.390000	1.000000	1.000000	0.695586	0.680000	0	5.200000e-01	8.700000e-01
SCNN1A	6337	broad.mit.edu	37	12	6457894	6457894	+	Splice_Site	SNP	G	G	A	rs72657549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457894G>A	ENST00000228916.2	-	12	1726	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Splice_Site_p.T565M|SCNN1A_ENST00000540037.1_Splice_Site_p.T243M|SCNN1A_ENST00000360168.3_Splice_Site_p.T602M|SCNN1A_ENST00000543768.1_Splice_Site_p.T566M	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit			27				Amiloride(DB00594)|Triamterene(DB00384)	ACGACCTACCGTGACAGAGGG	0.537000																								0							SO:0001630	splice_region_variant			ENST00000228916.2	1	0	hg19	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540820	0.65085	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.0	5.0	0.66597	.	0.087235	0.49305	D	0.000157	T	0.79275	0.4418	M	0.85299	2.745	0.46631	D	0.999132	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.959;0.954	T	0.82234	-0.0558	10	0.87932	D	0	-21.3724	10.9631	0.47397	0.0:0.0:0.8132:0.1868	.	566;543;602	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	602;565;243;543;566	ENSP00000353292:T602M;ENSP00000351825:T565M;ENSP00000440876:T243M;ENSP00000228916:T543M;ENSP00000438739:T566M	ENSP00000228916:T543M	T	-	2	0	SCNN1A	6328155	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.608000	0.61141	2.331000	0.79229	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1	0	0	1	47	381	0	91	1	9.999950e-01	22	125	0	91	2		0	0	0	0	0	2	1	1	47	372	0	90	2								-20.000000	1	1	121412	2	37	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.930000	1.000000	1.000000	0.996033	0.990000	1	9.900000e-01	1
C12orf56	115749	broad.mit.edu	37	12	64664489	64664489	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64664489A>G	ENST00000543942.2	-	12	2216	c.1590T>C	c.(1588-1590)acT>acC	p.T530T	C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Silent_p.T370T|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56			15			GBM - Glioblastoma multiforme(3;0.000582)		TGGCCACAAAAGTAATCTAGA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000543942.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	1	0	1	40	160	0	64	1	6.765259e-01	6	5	0	64	2		0	0	0	0	0	2	1	1	39	152	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPOT	11260	broad.mit.edu	37	12	64818836	64818836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64818836G>A	ENST00000332707.5	+	13	1855	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA			45					AGACTACACGGTTTATGGAAG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000332707.5	1	1	hg19	CCDS31852.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	1	0	1	89	397	0	100	1	1	68	215	0	100	2		0	0	0	0	0	2	1	1	89	388	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPOT	11260	broad.mit.edu	37	12	64841907	64841907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64841907C>A	ENST00000332707.5	+	25	3414	c.2885C>A	c.(2884-2886)cCc>cAc	p.P962H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA			45					AGAGCAAAGCCCTGAGGACTG	0.383000																								0							SO:0001583	missense			ENST00000332707.5	1	1	hg19	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886625	0.72410	.	.	ENSG00000184575	ENST00000332707	T	0.26067	1.76	5.62	5.62	0.85841	.	0.107943	0.64402	D	0.000003	T	0.31071	0.0785	N	0.08118	0	0.47698	D	0.999495	D	0.63046	0.992	D	0.72338	0.977	T	0.20706	-1.0267	9	.	.	.	.	17.806	0.88601	0.0:1.0:0.0:0.0	.	962	O43592	XPOT_HUMAN	H	962	ENSP00000327821:P962H	.	P	+	2	0	XPOT	63128174	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.484000	0.60271	2.820000	0.97059	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	1	0	1	71	344	0	82	1	1	100	272	0	82	2		0	0	0	0	0	2	1	1	70	338	0	82	2								-3.175980	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBK1	29110	broad.mit.edu	37	12	64895141	64895141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64895141C>T	ENST00000331710.5	+	21	2509	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1			20					TGGTGGCCTTCGCAACGTTGA	0.368000																								0							SO:0001583	missense			ENST00000331710.5	1	1	hg19	CCDS8968.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	19.42	3.823372	0.71143	.	.	ENSG00000183735	ENST00000331710	T	0.70986	-0.53	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	N	0.08118	0	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	T	0.64736	-0.6337	9	.	.	.	-4.5344	14.5605	0.68133	0.2533:0.7467:0.0:0.0	.	724	Q9UHD2	TBK1_HUMAN	C	724	ENSP00000329967:R724C	.	R	+	1	0	TBK1	63181408	0.259000	0.24043	1.000000	0.80357	0.979000	0.70002	0.370000	0.20433	2.873000	0.98535	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	1	0	1	96	471	0	128	1	9.999999e-01	31	84	0	128	2		0	0	0	0	0	2	1	1	94	458	0	128	2								-3.334016	1	1	121412	11	44	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WIF1	11197	broad.mit.edu	37	12	65461485	65461485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65461485G>A	ENST00000286574.4	-	5	998	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1			21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)		CTTTCTCACAGTGAGGTCCGT	0.507000			T	HMGA2	pleomorphic salivary gland adenoma								Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0							SO:0001819	synonymous_variant			ENST00000286574.4	1	1	hg19	CCDS8971.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2	1	0	1	34	152	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	34	150	0	46	2								-20.000000	1	1	121374	1	26	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
WIF1	11197	broad.mit.edu	37	12	65462580	65462580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65462580G>T	ENST00000286574.4	-	4	876	c.502C>A	c.(502-504)Cct>Act	p.P168T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1			21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)		GCATTTTGAGGTGTTTGGAGA	0.413000			T	HMGA2	pleomorphic salivary gland adenoma								Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0							SO:0001583	missense			ENST00000286574.4	1	1	hg19	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888886	0.72524	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.41758	0.99;0.99	5.51	5.51	0.81932	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56655	-0.7943	9	.	.	.	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	168	Q9Y5W5	WIF1_HUMAN	T	168;106	ENSP00000286574:P168T;ENSP00000442063:P106T	.	P	-	1	0	WIF1	63748847	1.000000	0.71417	0.970000	0.41538	0.560000	0.35617	8.158000	0.89649	2.758000	0.94735	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2	1	0	1	74	367	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	75	352	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LEMD3	23592	broad.mit.edu	37	12	65632541	65632541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65632541G>A	ENST00000308330.2	+	6	1894	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3			36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)		TTTTGGTGTCGTTTTCGACGT	0.353000																								0							SO:0001583	missense			ENST00000308330.2	1	1	hg19	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795785	0.90453	.	.	ENSG00000174106	ENST00000308330	T	0.52983	0.64	4.89	4.89	0.63831	Inner nuclear membrane protein MAN1 (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68758	-0.5324	9	.	.	.	-9.3081	18.9427	0.92610	0.0:0.0:1.0:0.0	.	623	Q9Y2U8	MAN1_HUMAN	H	623	ENSP00000308369:R623H	.	R	+	2	0	LEMD3	63918808	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.295000	0.89937	2.653000	0.90120	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2	1	0	1	58	266	0	62	1	9.998799e-01	18	46	0	62	2		0	0	0	0	0	2	1	1	54	262	0	62	2								-20.000000	1	1	121406	2	32	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAPBPL	55080	broad.mit.edu	37	12	6567973	6567973	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6567973G>T	ENST00000266556.7	+	5	1232	c.1067G>T	c.(1066-1068)aGg>aTg	p.R356M	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like			6					TCCAGCCTCAGGCAAAGCGTG	0.597000																								0							SO:0001583	missense			ENST00000266556.7	1	1	hg19	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309243	0.81247	.	.	ENSG00000139192	ENST00000266556	T	0.02916	4.11	5.22	5.22	0.72569	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	L	0.55990	1.75	0.47994	D	0.999564	D	0.71674	0.998	D	0.70935	0.971	T	0.00192	-1.1935	10	0.87932	D	0	-24.2099	14.6634	0.68891	0.0:0.0:1.0:0.0	.	356	Q9BX59	TPSNR_HUMAN	M	356	ENSP00000266556:R356M	ENSP00000266556:R356M	R	+	2	0	TAPBPL	6438234	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.395000	0.73228	2.603000	0.88011	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	1	0	1	60	266	0	79	1	1	37	111	0	79	2		0	0	0	0	0	2	1	1	59	261	0	79	2								-3.444590	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B4GALNT3	283358	broad.mit.edu	37	12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:657400C>T	ENST00000266383.5	+	9	803	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3			26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		CTTCCAGTGGCGACGGAACGA	0.582000																								0							SO:0001587	stop_gained			ENST00000266383.5	0	1	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396368	0.62177	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.24	3.34	0.38264	.	0.228496	0.38778	N	0.001568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8307	8.0176	0.30389	0.3527:0.5677:0.0:0.0796	.	.	.	.	X	264;166	.	ENSP00000266383:R264X	R	+	1	2	B4GALNT3	527661	1.000000	0.71417	0.992000	0.48379	0.385000	0.30292	1.776000	0.38594	0.530000	0.28619	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	1	0	0	44	242	0	61	1	9.999323e-01	7	75	0	61	2		0	0	0	0	0	2	1	1	44	231	0	61	2								-3.330108	1	1	121412	1	32	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
MSRB3	253827	broad.mit.edu	37	12	65856975	65856975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65856975G>A	ENST00000355192.3	+	6	578	c.452G>A	c.(451-453)cGt>cAt	p.R151H	MSRB3_ENST00000308259.5_Missense_Mutation_p.R144H|MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3			13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)		GATGGGCCTCGTCCAACTGGG	0.522000																								0							SO:0001583	missense			ENST00000355192.3	1	1	hg19	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370903	0.95923	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.222920	0.44285	D	0.000472	D	0.86159	0.5866	M	0.62088	1.915	0.54753	D	0.999985	D;D	0.64830	0.994;0.975	D;P	0.63283	0.913;0.766	D	0.84050	0.0369	9	.	.	.	-6.5414	20.3325	0.98724	0.0:0.0:1.0:0.0	.	151;144	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	H	151;144;144;144	ENSP00000347324:R151H;ENSP00000312274:R144H;ENSP00000441650:R144H;ENSP00000445843:R144H	.	R	+	2	0	MSRB3	64143242	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.573000	0.67417	2.890000	0.99128	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	1	0	1	126	580	0	105	1	1	5	110	0	105	2		0	0	0	0	0	2	1	1	125	573	0	105	2								-20.000000	1	1	121412	8	43	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL51	51258	broad.mit.edu	37	12	6601500	6601500	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6601500G>A	ENST00000229238.3	-	3	785	c.324C>T	c.(322-324)caC>caT	p.H108H	MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_Silent_p.H12H|NCAPD2_ENST00000545962.1_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51			6					TATTAAGGTTGTGCAGGTCAT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000229238.3	1	1	hg19	CCDS8547.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	1	0	1	176	894	0	254	1	1	170	561	0	254	2		0	0	0	0	0	2	1	1	171	880	0	252	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPD2	9918	broad.mit.edu	37	12	6618917	6618917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6618917G>A	ENST00000315579.5	+	3	961	c.162G>A	c.(160-162)ctG>ctA	p.L54L	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.W29*|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2			48					AGGGGCCCCTGGCTATGCTGC	0.413000																								0							SO:0001819	synonymous_variant			ENST00000315579.5	0	1	hg19	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499784	0.44455	.	.	ENSG00000010292	ENST00000545962	.	.	.	5.41	-0.64	0.11493	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9232	4.2976	0.10910	0.0708:0.1993:0.3311:0.3987	.	.	.	.	X	29	.	.	W	+	2	0	NCAPD2	6489178	0.999000	0.42202	0.948000	0.38648	0.289000	0.27227	0.731000	0.26058	0.204000	0.20548	0.555000	0.69702	TGG		TCGA-IB-7651-01A-11D-2154-08	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	0	0	0	47	966	0	198	1	7.959758e-01	3	60	0	198	2		0	0	0	0	0	2	1	1	47	942	0	198	2								-5.020883	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.520000	0.390000	0.680000	0.530000	0.534205	0.520000	0	4.500000e-01	6.100000e-01
NCAPD2	9918	broad.mit.edu	37	12	6619865	6619865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6619865C>T	ENST00000315579.5	+	5	1132	c.333C>T	c.(331-333)aaC>aaT	p.N111N	NCAPD2_ENST00000545962.1_Silent_p.N66N|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2			48					CAGATAGAAACGCCCATCTAA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000315579.5	1	1	hg19	CCDS8548.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	1	0	1	75	403	0	105	1	9.998554e-01	15	56	0	105	2		0	0	0	0	0	2	1	1	73	394	0	104	2								-20.000000	1	1	121412	4	38	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPD2	9918	broad.mit.edu	37	12	6623541	6623541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6623541G>A	ENST00000315579.5	+	7	1497	c.698G>A	c.(697-699)cGt>cAt	p.R233H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2			48					GCCTTGACCCGTTATAACCAT	0.488000																								0							SO:0001583	missense			ENST00000315579.5	1	1	hg19	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044904	0.36085	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.88896	-2.44;-2.44;-2.44	5.79	4.9	0.64082	Condensin complex, subunit 1, N-terminal (1);	0.169936	0.52532	N	0.000077	D	0.84915	0.5578	L	0.40543	1.245	0.27882	N	0.939653	B;B;B	0.30146	0.078;0.27;0.142	B;B;B	0.37989	0.014;0.262;0.056	T	0.74057	-0.3787	10	0.17832	T	0.49	-5.5111	11.5501	0.50716	0.154:0.0:0.846:0.0	.	188;194;233	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	233;105;188;105	ENSP00000325017:R233H;ENSP00000371895:R105H;ENSP00000444417:R188H	ENSP00000325017:R233H	R	+	2	0	NCAPD2	6493802	0.998000	0.40836	0.034000	0.17996	0.901000	0.52897	4.150000	0.58098	1.451000	0.47736	0.643000	0.83706	CGT		TCGA-IB-7651-01A-11D-2154-08	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	1	0	1	97	987	0	205	1	9.954944e-01	9	74	0	205	2		0	0	0	0	0	2	1	1	96	960	0	200	2								-19.999400	1	1	121412	1	38	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.820000	1.000000	1.000000	0.970152	0.990000	1	9.100000e-01	1
NCAPD2	9918	broad.mit.edu	37	12	6626806	6626806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6626806G>T	ENST00000315579.5	+	12	2164	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2			48					AGGAGACCCAGAAATTACAAG	0.478000																								0							SO:0001583	missense			ENST00000315579.5	1	1	hg19	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880287	0.72294	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.08720	3.06;3.06;3.06	5.49	4.6	0.57074	Armadillo-type fold (1);	0.348665	0.33959	N	0.004393	T	0.12433	0.0302	L	0.27053	0.805	0.42037	D	0.991051	D;P;P	0.54397	0.966;0.747;0.943	P;P;P	0.53809	0.735;0.497;0.547	T	0.05954	-1.0854	10	0.45353	T	0.12	-16.3621	14.1457	0.65349	0.0727:0.0:0.9273:0.0	.	410;416;455	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	455;327;410;327	ENSP00000325017:Q455H;ENSP00000371895:Q327H;ENSP00000444417:Q410H	ENSP00000325017:Q455H	Q	+	3	2	NCAPD2	6497067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.299000	0.43611	1.323000	0.45263	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	1	0	1	51	233	0	79	1	9.999961e-01	21	67	0	79	2		0	0	0	0	0	2	1	1	48	228	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NCAPD2	9918	broad.mit.edu	37	12	6637024	6637024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6637024C>T	ENST00000315579.5	+	23	3788	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	p.R997C(1)		48					AGAACTAATCCGTGGCATCTG	0.493000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000315579.5	1	1	hg19	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050528	0.55218	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.14022	2.54;2.54;2.54	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.999	D;P;P	0.68765	0.96;0.677;0.863	T	0.05550	-1.0878	10	0.59425	D	0.04	-16.4149	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	952;958;997	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	997;869;952;869	ENSP00000325017:R997C;ENSP00000371895:R869C;ENSP00000444417:R952C	ENSP00000325017:R997C	R	+	1	0	NCAPD2	6507285	1.000000	0.71417	0.954000	0.39281	0.127000	0.20565	3.691000	0.54720	2.824000	0.97209	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	1	0	1	125	639	0	158	1	1	39	125	0	158	2		0	0	0	0	0	2	1	1	124	632	0	158	2								-2.446165	0	1	121412	2	39	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMBIM4	51643	broad.mit.edu	37	12	66547187	66547187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66547187G>A	ENST00000358230.3	-	2	259	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4			9					GTAGTTAAGAGAACCTGCAGA	0.308000																								0							SO:0001583	missense			ENST00000358230.3	1	1	hg19	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302088	0.40694	.	.	ENSG00000155957	ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T;T	0.54279	0.72;0.72;0.72;0.72;0.58	5.46	5.46	0.80206	.	0.064425	0.64402	D	0.000009	T	0.54727	0.1876	L	0.61387	1.9	0.52099	D	0.999947	P;B;P;B;B	0.35844	0.524;0.185;0.524;0.087;0.179	B;B;B;B;B	0.42112	0.376;0.14;0.376;0.063;0.33	T	0.53034	-0.8495	9	.	.	.	-14.5531	12.2315	0.54490	0.0821:0.0:0.9179:0.0	.	47;94;47;16;47	E7EWY5;G3XAA5;E7EQ00;G3V1M2;Q9HC24	.;.;.;.;TMBI4_HUMAN	F	47;47;47;94;47;47;93;16	ENSP00000451688:L47F;ENSP00000350965:L47F;ENSP00000286424:L94F;ENSP00000381114:L47F;ENSP00000441291:L16F	.	L	-	1	0	TMBIM4	64833454	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	2.312000	0.43726	2.548000	0.85928	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	1	0	1	44	232	0	63	1	1	154	479	0	63	2		0	0	0	0	0	2	1	1	41	226	0	63	2								-19.996630	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
B4GALNT3	283358	broad.mit.edu	37	12	665887	665887	+	Silent	SNP	C	C	T	rs139340276	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:665887C>T	ENST00000266383.5	+	15	2248	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3			26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		GGGAGGAGGTCGAGGCCCGGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000266383.5	1	1	hg19	CCDS8504.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	1	0	1	44	151	0	35	1	9.999970e-01	10	61	0	35	2		0	0	0	0	0	2	1	1	44	146	0	35	2								-20.000000	1	1	121408	17	40	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFFO1	25900	broad.mit.edu	37	12	6664931	6664931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6664931C>T	ENST00000396840.2	-	1	306	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T|IFFO1_ENST00000336604.4_Missense_Mutation_p.A89T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1			20					TGCACCTTGGCCAGGAAGCAG	0.687000																								0							SO:0001583	missense			ENST00000396840.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.281834	0.95489	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	D;D;D	0.95980	-3.87;-3.87;-3.87	4.22	4.22	0.49857	.	0.254984	0.23266	N	0.050068	D	0.94551	0.8245	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.43094	0.799;0.799;0.799;0.799	P;P;P;P	0.44811	0.461;0.461;0.461;0.461	D	0.95380	0.8472	10	0.87932	D	0	-16.8933	15.5044	0.75725	0.0:1.0:0.0:0.0	.	89;89;89;89	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	89	ENSP00000337593:A89T;ENSP00000380052:A89T;ENSP00000349364:A89T	ENSP00000337593:A89T	A	-	1	0	IFFO1	6535192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.614000	0.74197	2.172000	0.68678	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	1	0	0	37	299	0	69	0	1.408516e-01	0	6	0	69	2		0	0	0	0	0	2	1	1	35	296	0	69	2								-3.221887	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.890000	1.000000	1.000000	0.993586	0.990000	1	9.900000e-01	1
HELB	92797	broad.mit.edu	37	12	66700219	66700219	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66700219G>T	ENST00000247815.4	+	3	761	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B			40			GBM - Glioblastoma multiforme(2;0.000142)		GGATCATAGGGTCAGGTTCTA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000247815.4	1	1	hg19	CCDS8976.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1	1	0	1	68	407	0	94	0	3.258204e-01	0	8	0	94	2		0	0	0	0	0	2	1	1	68	401	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOP2	4839	broad.mit.edu	37	12	6670153	6670153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6670153G>A	ENST00000322166.5	-	12	1412	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W|NOP2_ENST00000541778.1_Missense_Mutation_p.R427W|NOP2_ENST00000545200.1_Missense_Mutation_p.R427W|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W|NOP2_ENST00000399466.2_Missense_Mutation_p.R427W	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein			19					ACTCCCAGCCGATGCAAGTTG	0.547000																								0							SO:0001583	missense			ENST00000322166.5	1	1	hg19	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335701	0.81801	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71656	0.929;0.974	D	0.87916	0.2700	10	0.87932	D	0	-25.0293	16.0388	0.80650	0.0:0.0:0.8645:0.1355	.	427;427	Q05BA7;P46087-2	.;.	W	431;464;427;427;431;427	ENSP00000444437:R431W;ENSP00000371858:R464W;ENSP00000439422:R427W;ENSP00000382392:R427W;ENSP00000313272:R431W;ENSP00000443150:R427W	ENSP00000313272:R431W	R	-	1	2	NOP2	6540414	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.498000	0.66931	1.391000	0.46566	-0.181000	0.13052	CGG		TCGA-IB-7651-01A-11D-2154-08	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	1	0	1	38	140	0	28	1	1	58	92	0	28	2		0	0	0	0	0	2	1	1	37	137	0	27	2								-20.000000	1	1	121100	1	27	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HELB	92797	broad.mit.edu	37	12	66718889	66718889	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66718889A>G	ENST00000247815.4	+	11	2712	c.2653A>G	c.(2653-2655)Act>Gct	p.T885A		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B			40			GBM - Glioblastoma multiforme(2;0.000142)		ATGGGCAAGAACTATTCACAC	0.343000																								0							SO:0001583	missense			ENST00000247815.4	1	1	hg19	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631428	0.46944	.	.	ENSG00000127311	ENST00000247815	T	0.32023	1.47	5.42	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.94101	3.495	0.41065	D	0.985403	P	0.38978	0.652	B	0.39706	0.307	T	0.60110	-0.7327	9	.	.	.	-24.8586	12.2805	0.54760	0.8733:0.0:0.0:0.1267	.	885	Q8NG08	HELB_HUMAN	A	885	ENSP00000247815:T885A	.	T	+	1	0	HELB	65005156	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.295000	0.78780	2.190000	0.69967	0.496000	0.49642	ACT		TCGA-IB-7651-01A-11D-2154-08	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1	1	0	1	58	292	0	67	0	1.342358e-01	1	3	0	67	2		0	0	0	0	0	2	1	1	56	289	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD4	1108	broad.mit.edu	37	12	6687287	6687287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6687287C>T	ENST00000357008.2	-	36	5299	c.5136G>A	c.(5134-5136)tgG>tgA	p.W1712*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.W1737*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.W1740*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4			2					CTTCATTCTGCCAAAGGGAGT	0.488000													Colon(32;586 792 4568 16848 45314)											0							SO:0001587	stop_gained			ENST00000357008.2	0	1	hg19	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	47	13.235734	0.99729	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	X	1737;1705;1740;1712;1686	.	ENSP00000312419:W1740X	W	-	3	0	CHD4	6557548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	73	283	0	85	1	1	14	344	0	85	2	1	1	178	813	0	1025	2	1	1	73	272	0	85	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD4	1108	broad.mit.edu	37	12	6690899	6690899	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6690899G>T	ENST00000357008.2	-	31	4760	c.4597C>A	c.(4597-4599)Cca>Aca	p.P1533T	CHD4_ENST00000544484.1_Missense_Mutation_p.P1558T|CHD4_ENST00000309577.6_Missense_Mutation_p.P1561T|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4			2					GGTGACCCTGGCTGGGACATC	0.562000													Colon(32;586 792 4568 16848 45314)											0							SO:0001583	missense			ENST00000357008.2	1	1	hg19	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664373	0.47572	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89875	-2.58;-2.56;-2.58;-2.56	5.76	5.76	0.90799	.	0.129340	0.52532	D	0.000069	D	0.85392	0.5686	L	0.54323	1.7	0.58432	D	0.999997	B;B;P	0.36535	0.435;0.001;0.557	B;B;B	0.35971	0.116;0.002;0.215	T	0.82180	-0.0585	10	0.15066	T	0.55	-4.4237	14.78	0.69760	0.0:0.0:0.8557:0.1442	.	1561;1533;1526	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	1558;1526;1561;1533;1507	ENSP00000440392:P1558T;ENSP00000440542:P1526T;ENSP00000312419:P1561T;ENSP00000349508:P1533T	ENSP00000312419:P1561T	P	-	1	0	CHD4	6561160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.517000	0.81783	2.726000	0.93360	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	80	420	0	99	1	1	113	207	0	99	2	1	1	40	228	0	218	2	1	1	78	406	0	98	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIP1	23426	broad.mit.edu	37	12	66990684	66990684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66990684C>T	ENST00000398016.3	-	2	147	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T|GRIP1_ENST00000359742.4_Missense_Mutation_p.A27T	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1			50			GBM - Glioblastoma multiforme(2;0.00069)		GTCTGGCTGGCGGATTTAGTG	0.443000																								0							SO:0001583	missense			ENST00000398016.3	1	1	hg19	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467165	0.43839	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000541947	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.48	5.83	3.91	0.45181	.	0.135447	0.48767	N	0.000168	T	0.09069	0.0224	N	0.08118	0	0.30312	N	0.788396	B;B	0.13594	0.007;0.008	B;B	0.14578	0.011;0.011	T	0.17471	-1.0368	9	.	.	.	-14.9658	6.7807	0.23643	0.174:0.7379:0.0:0.088	.	27;27	F5H4N6;Q9Y3R0-3	.;.	T	27;27;27;27;53	ENSP00000381098:A27T;ENSP00000352780:A27T;ENSP00000286445:A27T;ENSP00000446047:A27T;ENSP00000438921:A53T	.	A	-	1	0	GRIP1	65276951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.682000	0.37628	1.466000	0.48025	-0.145000	0.13849	GCC		TCGA-IB-7651-01A-11D-2154-08	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2	0	0	1	78	343	0	65	0	3.507214e-02	1	1	0	65	2		0	0	0	0	0	2	1	1	78	335	0	64	2								-2.052248	0	1	120818	2	33	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD4	1108	broad.mit.edu	37	12	6700658	6700658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6700658C>T	ENST00000357008.2	-	22	3477	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	CHD4_ENST00000544484.1_Missense_Mutation_p.R1102Q|CHD4_ENST00000309577.6_Missense_Mutation_p.R1105Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4			2					GGCCTCTTGCCGCATGTTCCC	0.433000													Colon(32;586 792 4568 16848 45314)											0							SO:0001583	missense			ENST00000357008.2	1	1	hg19	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759737	0.89932	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.964	D	0.98797	1.0738	10	0.87932	D	0	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	1105;1105;1098	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1102;1098;1105;1105;1079	ENSP00000440392:R1102Q;ENSP00000440542:R1098Q;ENSP00000312419:R1105Q;ENSP00000349508:R1105Q	ENSP00000312419:R1105Q	R	-	2	0	CHD4	6570919	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.685000	0.84117	2.409000	0.81822	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	74	334	0	92	1	1	14	252	0	92	2	1	1	140	592	0	678	2	1	1	73	326	0	92	2								-2.805046	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD4	1108	broad.mit.edu	37	12	6701917	6701917	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6701917T>G	ENST00000357008.2	-	18	2882	c.2719A>C	c.(2719-2721)Aac>Cac	p.N907H	CHD4_ENST00000544484.1_Missense_Mutation_p.N904H|CHD4_ENST00000309577.6_Missense_Mutation_p.N907H|CHD4_ENST00000544040.1_Missense_Mutation_p.N900H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4			2					TCCAGATTGTTTTGTAATGGT	0.443000													Colon(32;586 792 4568 16848 45314)											0							SO:0001583	missense			ENST00000357008.2	1	1	hg19	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371176	0.82573	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.996	D	0.99509	1.0955	10	0.87932	D	0	23.5174	15.9051	0.79423	0.0:0.0:0.0:1.0	.	907;907;900	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	904;900;907;907;881	ENSP00000440392:N904H;ENSP00000440542:N900H;ENSP00000312419:N907H;ENSP00000349508:N907H	ENSP00000312419:N907H	N	-	1	0	CHD4	6572178	1.000000	0.71417	0.935000	0.37517	0.920000	0.55202	8.013000	0.88655	2.151000	0.67156	0.455000	0.32223	AAC		TCGA-IB-7651-01A-11D-2154-08	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	17	381	0	65	0	9.959081e-01	0	201	0	65	2	0	2.937965e-01	1	23	0	12	2	1	9.999593e-01	16	372	0	64	2								-17.811780	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.480000	0.290000	0.730000	0.480000	0.503576	0.480000	0	3.800000e-01	6.100000e-01
CHD4	1108	broad.mit.edu	37	12	6707221	6707221	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6707221C>T	ENST00000357008.2	-	12	1894	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	CHD4_ENST00000544484.1_Silent_p.K574K|CHD4_ENST00000309577.6_Silent_p.K577K|CHD4_ENST00000544040.1_Silent_p.K570K	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4			2					CCATATCATTCTTCCGCTGAT	0.473000													Colon(32;586 792 4568 16848 45314)											0							SO:0001819	synonymous_variant			ENST00000357008.2	1	1	hg19	CCDS8552.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	185	734	0	172	1	1	6	171	0	172	2	1	1	179	759	0	848	2	1	1	181	730	0	170	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPAR5	57121	broad.mit.edu	37	12	6729583	6729583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6729583C>T	ENST00000329858.4	-	2	1588	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M|LPAR5_ENST00000540335.1_5'Flank	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5			7					ACCATCAGCACCCCGCGCACG	0.692000													NSCLC(74;891 2312 37538)											0							SO:0001583	missense			ENST00000329858.4	0	1	hg19	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947639	0.18356	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.38560	1.13;1.13	4.89	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.251014	0.27831	N	0.017662	T	0.49949	0.1587	L	0.48260	1.515	0.23314	N	0.997925	D	0.76494	0.999	D	0.71184	0.972	T	0.34453	-0.9828	10	0.18710	T	0.47	.	8.7994	0.34898	0.0:0.7683:0.1522:0.0795	.	278	Q9H1C0	LPAR5_HUMAN	M	278	ENSP00000327875:V278M;ENSP00000393098:V278M	ENSP00000327875:V278M	V	-	1	0	LPAR5	6599844	0.049000	0.20398	0.787000	0.31911	0.365000	0.29674	3.192000	0.50989	1.232000	0.43678	0.491000	0.48974	GTG		TCGA-IB-7651-01A-11D-2154-08	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	1	0	1	15	96	0	18	1	3.161757e-01	2	6	0	18	2		0	0	0	0	0	2	1	9.998736e-01	13	93	0	18	2								-19.999990	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.850000	1.000000	1.000000	0.990818	0.990000	1	9.900000e-01	1
LPAR5	57121	broad.mit.edu	37	12	6730346	6730346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6730346G>A	ENST00000329858.4	-	2	825	c.69C>T	c.(67-69)cgC>cgT	p.R23R	LPAR5_ENST00000431922.1_Silent_p.R23R|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5			7					CCAAGTGCAGGCGGTGGGTAG	0.632000													NSCLC(74;891 2312 37538)											0							SO:0001819	synonymous_variant			ENST00000329858.4	1	1	hg19	CCDS8553.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	1	0	1	16	83	0	25	1	9.995278e-01	15	57	0	25	2		0	0	0	0	0	2	1	9.999557e-01	16	82	0	25	2								-20.000000	1	1	121220	1	35	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.970000	1.000000	1.000000	0.997168	0.990000	1	9.900000e-01	1
ACRBP	84519	broad.mit.edu	37	12	6753468	6753468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6753468G>T	ENST00000229243.2	-	5	872	c.779C>A	c.(778-780)tCt>tAt	p.S260Y	ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y|ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein			17					AGAAGATAGAGATTCAGAGTG	0.517000																								0							SO:0001583	missense			ENST00000229243.2	0	1	hg19	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	2.439	-0.329000	0.05314	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.52057	0.68;0.79	3.48	1.42	0.22433	.	0.652572	0.14230	N	0.332834	T	0.35008	0.0917	L	0.54323	1.7	0.09310	N	1	B;B	0.26935	0.047;0.164	B;B	0.21917	0.037;0.037	T	0.23261	-1.0193	10	0.12766	T	0.61	-6.0415	6.3572	0.21408	0.2096:0.0:0.7904:0.0	.	227;260	E7EP66;Q8NEB7	.;ACRBP_HUMAN	Y	260;227;260	ENSP00000229243:S260Y;ENSP00000402725:S227Y	ENSP00000229243:S260Y	S	-	2	0	ACRBP	6623729	0.036000	0.19791	0.001000	0.08648	0.187000	0.23431	1.590000	0.36654	0.348000	0.23949	0.491000	0.48974	TCT		TCGA-IB-7651-01A-11D-2154-08	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	1	0	0	12	251	0	41	1	2.399061e-01	2	17	0	41	2		0	0	0	0	0	2	1	9.990525e-01	12	245	0	41	2								-14.103890	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.520000	0.280000	0.840000	0.510000	0.544333	0.520000	0	3.900000e-01	6.800000e-01
CAND1	55832	broad.mit.edu	37	12	67686551	67686551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67686551C>T	ENST00000545606.1	+	3	799	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1			35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)		CCTCCAGCTTCCAGTGGTAAG	0.433000																								0							SO:0001583	missense			ENST00000545606.1	1	1	hg19	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047431	0.93740	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.08634	3.07	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.77820	2.39	0.80722	D	1	P	0.52577	0.954	P	0.50617	0.646	T	0.01993	-1.1233	9	.	.	.	-5.5697	18.1081	0.89526	0.0:1.0:0.0:0.0	.	121	Q86VP6	CAND1_HUMAN	F	121	ENSP00000442318:S121F	.	S	+	2	0	CAND1	65972818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.260000	0.74910	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	1	0	1	112	522	0	90	1	1	35	137	0	90	2		0	0	0	0	0	2	1	1	111	510	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAND1	55832	broad.mit.edu	37	12	67699732	67699732	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67699732C>A	ENST00000545606.1	+	10	2721	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1			35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)		TTTCCAAGCTCTGGTTGTCAC	0.433000																								0							SO:0001583	missense			ENST00000545606.1	1	1	hg19	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116458	0.37339	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.74106	-0.81;-0.81	5.48	2.15	0.27550	Armadillo-like helical (1);Armadillo-type fold (1);	0.069116	0.64402	D	0.000019	D	0.85274	0.5659	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.974	D	0.85583	0.1241	9	.	.	.	-5.4556	11.446	0.50123	0.0:0.7072:0.0:0.2928	.	594;762	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	M	762;762;302	ENSP00000442318:L762M;ENSP00000444089:L302M	.	L	+	1	2	CAND1	65985999	0.951000	0.32395	0.998000	0.56505	0.989000	0.77384	0.608000	0.24223	0.653000	0.30826	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	1	0	1	41	565	0	153	1	9.999934e-01	26	217	0	153	2		0	0	0	0	0	2	1	1	40	555	0	153	2								-3.318793	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.810000	0.580000	1.000000	1.000000	0.820137	0.810000	0	6.900000e-01	9.700000e-01
MLF2	8079	broad.mit.edu	37	12	6858017	6858017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6858017C>T	ENST00000203630.5	-	8	1335	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2			9					CCCTGGATGGCCAGGCGGGGA	0.682000																								0							SO:0001583	missense			ENST00000203630.5	1	1	hg19	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048903	0.75846	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	5.08	0.68730	.	0.246438	0.40554	N	0.001074	T	0.44329	0.1288	N	0.24115	0.695	0.52501	D	0.999955	P	0.51791	0.948	P	0.45610	0.487	T	0.26677	-1.0096	9	0.17369	T	0.5	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	231	Q15773	MLF2_HUMAN	T	231	.	ENSP00000203630:A231T	A	-	1	0	MLF2	6728278	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	5.062000	0.64326	2.365000	0.80145	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2	1	0	1	81	402	0	89	1	1	207	571	0	89	2		0	0	0	0	0	2	1	1	79	390	0	84	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL26	55801	broad.mit.edu	37	12	68619463	68619463	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68619463T>C	ENST00000229134.4	-	1	138	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26			12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)		GAAGGAAGATTGCTTGTGCTT	0.473000																								0							SO:0001583	missense			ENST00000229134.4	1	1	hg19	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	T	6.148	0.395487	0.11638	.	.	ENSG00000111536	ENST00000229134	T	0.63255	-0.03	4.54	-3.12	0.05282	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.841659	0.10253	N	0.696898	T	0.45518	0.1346	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29305	-1.0016	9	.	.	.	.	8.342	0.32249	0.0:0.0805:0.5146:0.4049	.	25	Q9NPH9	IL26_HUMAN	R	25	ENSP00000229134:Q25R	.	Q	-	2	0	IL26	66905730	0.005000	0.15991	0.006000	0.13384	0.481000	0.33189	0.399000	0.20916	-0.619000	0.05648	0.379000	0.24179	CAA		TCGA-IB-7651-01A-11D-2154-08	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	1	0	1	152	630	0	155		0	0	0	0	155	2		0	0	0	0	0	2	1	1	150	619	0	154	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDM1	56890	broad.mit.edu	37	12	68707511	68707511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68707511C>T	ENST00000303145.7	-	10	1608	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	MDM1_ENST00000540418.1_Missense_Mutation_p.E228K|MDM1_ENST00000411698.2_Missense_Mutation_p.E473K	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)			33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)		CCTCCTTTTTCTGAGGATACA	0.403000																								0							SO:0001583	missense			ENST00000303145.7	1	1	hg19	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131855	0.37630	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.24723	1.84;1.84;1.84	4.98	4.09	0.47781	.	0.558347	0.17014	N	0.190395	T	0.20941	0.0504	L	0.34521	1.04	0.80722	D	1	B;B	0.27679	0.152;0.185	B;B	0.29785	0.107;0.093	T	0.03555	-1.1025	9	.	.	.	-6.0315	12.8595	0.57906	0.0:0.9204:0.0:0.0796	.	473;508	E7EPQ3;Q8TC05	.;MDM1_HUMAN	K	228;508;473	ENSP00000443815:E228K;ENSP00000302537:E508K;ENSP00000391006:E473K	.	E	-	1	0	MDM1	66993778	0.019000	0.18553	0.931000	0.37212	0.638000	0.38207	0.861000	0.27885	1.238000	0.43771	0.484000	0.47621	GAA		TCGA-IB-7651-01A-11D-2154-08	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	1	0	1	68	250	0	58	1	9.736461e-01	4	20	0	58	2		0	0	0	0	0	2	1	1	64	246	0	58	2								-3.916044	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAP1B	5908	broad.mit.edu	37	12	69050899	69050899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69050899C>T	ENST00000250559.9	+	7	718	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family			12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		TGACCTAGTGCGGCAAATTAA	0.373000																								0							SO:0001583	missense			ENST00000250559.9	1	1	hg19	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666603	0.47677	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000543697	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-1.27;-1.27;-0.65;-0.65;-0.65;-0.65;-0.66	5.58	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.98446	4.235	0.80722	D	1	B;D;B;B	0.60160	0.27;0.987;0.215;0.215	B;P;B;B	0.48571	0.014;0.582;0.085;0.069	D	0.91507	0.5224	9	.	.	.	.	11.7183	0.51666	0.1255:0.8074:0.0:0.0671	.	116;121;144;163	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	W	163;163;163;163;121;112;97;97;144;97;121;116;115	ENSP00000250559:R163W;ENSP00000377085:R163W;ENSP00000441275:R163W;ENSP00000439966:R163W;ENSP00000399986:R121W;ENSP00000444467:R112W;ENSP00000445090:R97W;ENSP00000368270:R97W;ENSP00000446318:R144W;ENSP00000443775:R97W;ENSP00000444830:R121W;ENSP00000440014:R116W;ENSP00000440708:R115W	.	R	+	1	2	RAP1B	67337166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.222000	0.32515	1.507000	0.48752	0.644000	0.83932	CGG		TCGA-IB-7651-01A-11D-2154-08	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	1	0	1	114	461	0	100	1	1	86	231	0	100	2		0	0	0	0	0	2	1	1	113	457	0	112	2								-20.000000	1	1	121412	2	36	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP107	57122	broad.mit.edu	37	12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa		NUP107/LGR5(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		GAGAATATTCGAAAGAAAGAT	0.353000																								0							SO:0001583	missense			ENST00000229179.4	1	1	hg19	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805898	0.90623	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.59	5.59	0.84812	.	0.059343	0.64402	D	0.000003	T	0.69593	0.3128	M	0.73598	2.24	0.80722	D	1	P;P	0.45283	0.855;0.768	P;B	0.45119	0.47;0.346	T	0.70096	-0.4966	8	.	.	.	-0.1557	19.9688	0.97277	0.0:0.0:1.0:0.0	.	615;644	B4DZ67;P57740	.;NU107_HUMAN	Q	644;615	.	.	R	+	2	0	NUP107	67411699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.492000	0.73654	2.804000	0.96469	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	1	0	1	27	324	0	64	1	9.925751e-01	11	84	0	64	2		0	0	0	0	0	2	1	9.999999e-01	27	314	0	63	2								-8.424205	1	1	121412	1	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.920000	0.620000	1.000000	1.000000	0.896214	0.920000	1	7.600000e-01	1
MDM2	4193	broad.mit.edu	37	12	69222680	69222680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69222680G>T	ENST00000350057.5	+	6	560	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MDM2_ENST00000360430.2_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.S218I|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase			19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		AGAAGCAGTAGCAGTGAATCT	0.418000			A		sarcoma, glioma, colorectal, other										Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		M, O, E, L	0							SO:0001583	missense			ENST00000350057.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.30	2.792010	0.50102	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.53857	1.27;0.68;0.68;0.6;1.28	4.74	3.85	0.44370	SWIB/MDM2 domain (1);	0.078405	0.85682	D	0.000000	T	0.65270	0.2675	M	0.61703	1.905	0.80722	D	1	P;P;P;D	0.55800	0.953;0.808;0.953;0.973	P;B;P;P	0.61533	0.89;0.261;0.89;0.89	T	0.65869	-0.6063	9	.	.	.	-0.0638	13.6451	0.62277	0.0763:0.0:0.9237:0.0	.	167;212;163;218	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	I	218;167;157;212;173;163;212;212;187	ENSP00000417281:S218I;ENSP00000258149:S157I;ENSP00000258148:S163I;ENSP00000444430:S212I;ENSP00000266624:S187I	.	S	+	2	0	MDM2	67508947	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	5.027000	0.64109	1.330000	0.45394	-0.373000	0.07131	AGC		TCGA-IB-7651-01A-11D-2154-08	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	1	0	0	60	610	0	138	1	9.997999e-01	10	116	0	138	2		0	0	0	0	0	2	1	1	59	596	0	138	2								-16.147450	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.820000	1.000000	1.000000	0.977449	0.990000	1	9.300000e-01	1
CD4	920	broad.mit.edu	37	12	6925373	6925373	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6925373C>A	ENST00000011653.4	+	6	1017	c.759C>A	c.(757-759)acC>acA	p.T253T	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule			23		Myeloproliferative disorder(1001;0.0122)		Antithymocyte globulin(DB00098)	CTTGGATCACCTTTGACCTGA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000011653.4	1	1	hg19	CCDS8562.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	1	0	1	139	681	0	154	0	1	0	297	0	154	2		0	0	0	0	0	2	1	1	138	672	0	153	2								-3.024008	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD4	920	broad.mit.edu	37	12	6927707	6927707	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6927707G>T	ENST00000011653.4	+	8	1535	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule			23		Myeloproliferative disorder(1001;0.0122)		Antithymocyte globulin(DB00098)	CGGCACCGAAGGGTGAGTAAC	0.602000																								0							SO:0001630	splice_region_variant			ENST00000011653.4	1	0	hg19	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606016	0.46527	.	.	ENSG00000010610	ENST00000011653	T	0.29655	1.56	4.23	2.16	0.27623	T cell CD4 receptor C-terminal region (1);	0.338377	0.29073	N	0.013235	T	0.47673	0.1458	M	0.77820	2.39	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.975	T	0.43130	-0.9410	10	0.49607	T	0.09	-17.5898	3.7669	0.08626	0.1334:0.0:0.6051:0.2615	.	247;426	B0AZV7;P01730	.;CD4_HUMAN	M	426	ENSP00000011653:R426M	ENSP00000011653:R426M	R	+	2	0	CD4	6797968	0.291000	0.24352	0.793000	0.32043	0.522000	0.34438	0.157000	0.16402	0.944000	0.37579	0.561000	0.74099	AGG		TCGA-IB-7651-01A-11D-2154-08	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	0	0	1	45	236	0	56	0	1	0	253	0	56	2		0	0	0	0	0	2	1	1	43	233	0	55	2								-3.243912	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
CD4	920	broad.mit.edu	37	12	6928490	6928490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6928490A>G	ENST00000011653.4	+	10	1630	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	GPR162_ENST00000382315.3_5'Flank|GPR162_ENST00000428545.2_5'Flank|GPR162_ENST00000311268.3_5'Flank	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule			23		Myeloproliferative disorder(1001;0.0122)		Antithymocyte globulin(DB00098)	ATGTAGCCCCATTTGAGGCAC	0.597000																								0							SO:0001583	missense			ENST00000011653.4	1	1	hg19	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.832811	0.50951	.	.	ENSG00000010610	ENST00000011653	T	0.22743	1.94	3.95	-3.52	0.04682	.	1.485190	0.04117	N	0.315664	T	0.18841	0.0452	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.22800	0.075;0.075	B;B	0.19666	0.011;0.026	T	0.41627	-0.9498	10	0.62326	D	0.03	-16.945	8.6422	0.33983	0.2449:0.6549:0.1002:0.0	.	279;458	B0AZV7;P01730	.;CD4_HUMAN	V	458	ENSP00000011653:I458V	ENSP00000011653:I458V	I	+	1	0	CD4	6798751	0.009000	0.17119	0.000000	0.03702	0.400000	0.30750	0.360000	0.20250	-0.621000	0.05633	0.454000	0.30748	ATT		TCGA-IB-7651-01A-11D-2154-08	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	1	0	1	112	634	0	148	0	1	0	368	0	148	2		0	0	0	0	0	2	1	1	110	623	0	148	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR162	27239	broad.mit.edu	37	12	6936268	6936268	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6936268G>A	ENST00000311268.3	+	5	2453	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T	LEPREL2_ENST00000396725.2_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.A252T|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.A272T|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162			18					GGGACTAAGCGCAGGGAGACG	0.662000																								0							SO:0001583	missense			ENST00000311268.3	1	0	hg19	CCDS8563.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	8.703	0.910108	0.17833	0.0	1.17E-4	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.46063	3.02;0.88;0.88	4.52	-5.23	0.02798	.	.	.	.	.	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.29181	-1.0020	9	0.10111	T	0.7	.	4.5993	0.12345	0.3751:0.0:0.1516:0.4733	.	272;556	Q16538-2;Q16538	.;GP162_HUMAN	T	556;272;252	ENSP00000311528:A556T;ENSP00000399670:A272T;ENSP00000371752:A252T	ENSP00000311528:A556T	A	+	1	0	GPR162	6806529	0.856000	0.29760	0.025000	0.17156	0.750000	0.42670	-0.122000	0.10627	-1.009000	0.03400	-1.333000	0.01266	GCA		TCGA-IB-7651-01A-11D-2154-08	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	1	0	0	126	494	0	106	0	7.743677e-01	0	13	0	106	2		0	0	0	0	0	2	1	1	124	485	0	102	2								-20.000000	1	1	121238	22	45	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNB3	2784	broad.mit.edu	37	12	6952223	6952223	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6952223C>A	ENST00000229264.3	+	5	591	c.186C>A	c.(184-186)caC>caA	p.H62Q	GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3			20					ACGCCATGCACTGGGCCACTG	0.607000																								0							SO:0001583	missense			ENST00000229264.3	1	1	hg19	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649411	0.67358	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.26	2.4	0.29515	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	N	0.12746	0.255	0.58432	D	0.999999	P;P	0.45078	0.85;0.542	P;B	0.46275	0.51;0.248	T	0.28964	-1.0027	10	0.40728	T	0.16	-13.0059	10.6396	0.45586	0.0:0.7865:0.0:0.2135	.	62;62	E9PCP0;P16520	.;GBB3_HUMAN	Q	62	ENSP00000229264:H62Q;ENSP00000442002:H62Q;ENSP00000414734:H62Q;ENSP00000445967:H62Q	ENSP00000229264:H62Q	H	+	3	2	GNB3	6822484	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.069000	0.41481	0.606000	0.29965	0.491000	0.48974	CAC		TCGA-IB-7651-01A-11D-2154-08	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	1	0	1	55	272	0	70	0	1.379350e-01	0	4	0	70	2		0	0	0	0	0	2	1	1	53	264	0	62	2								-3.354752	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CDCA3	83461	broad.mit.edu	37	12	6958344	6958344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6958344G>A	ENST00000538862.2	-	6	1571	c.670C>T	c.(670-672)Cta>Tta	p.L224L	CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000604599.1_5'Flank|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000229265.6_Silent_p.L199L|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000535406.1_Silent_p.L224L			Q99618	CDCA3_HUMAN	cell division cycle associated 3			8					TTTTCACTTAGGGGTGAAGGC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000538862.2	1	1	hg19	CCDS8565.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	1	0	0	20	193	0	48	1	6.095979e-01	4	17	0	48	2		0	0	0	0	0	2	1	9.999954e-01	19	189	0	48	2								-3.075764	1	1	121410	1	26	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.670000	1.000000	1.000000	0.946635	0.990000	1	8.500000e-01	1
CPSF6	11052	broad.mit.edu	37	12	69653851	69653851	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69653851T>C	ENST00000435070.2	+	8	1453	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa			16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		ATTGAGACACTGGTAACTGCA	0.363000																								0							SO:0001583	missense			ENST00000435070.2	1	1	hg19	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482956	0.84747	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.88354	-2.37;-2.37;-2.37	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.993	D	0.93227	0.6614	9	.	.	.	-2.7417	16.3141	0.82909	0.0:0.0:0.0:1.0	.	196;485;448	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	P	448;375;485	ENSP00000391774:L448P;ENSP00000391437:L375P;ENSP00000266679:L485P	.	L	+	2	0	CPSF6	67940118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	CTG		TCGA-IB-7651-01A-11D-2154-08	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	1	0	1	64	345	0	61	1	1	86	205	0	61	2		0	0	0	0	0	2	1	1	63	343	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP5	8078	broad.mit.edu	37	12	6970734	6970734	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6970734C>T	ENST00000229268.8	+	13	1678	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	USP5_ENST00000389231.5_Silent_p.V542V|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)			36					CTGAGCAGGTCGATGACTTCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000229268.8	1	1	hg19	CCDS41743.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1	1	0	1	42	350	0	59	1	9.999998e-01	51	144	0	59	2		0	0	0	0	0	2	1	1	42	344	0	59	2								-20.000000	1	1	121402	2	32	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.890000	1.000000	1.000000	0.992980	0.990000	1	9.900000e-01	1
TPI1	7167	broad.mit.edu	37	12	6976836	6976836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6976836G>A	ENST00000229270.4	+	1	554	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TPI1_ENST00000396705.5_Missense_Mutation_p.A36T|TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1			19					CAAGGTGCCGGCCGACACCGG	0.716000																								0							SO:0001583	missense			ENST00000229270.4	1	1	hg19	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878122	0.51801	.	.	ENSG00000111669	ENST00000229270;ENST00000396705	D;D	0.93953	-3.32;-3.32	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);	0.146358	0.45361	U	0.000372	D	0.89427	0.6712	L	0.39397	1.21	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	D	0.84739	0.0750	10	0.27082	T	0.32	.	14.7388	0.69437	0.0:0.0:0.8539:0.1461	.	73	P60174	TPIS_HUMAN	T	73;36	ENSP00000229270:A73T;ENSP00000379933:A36T	ENSP00000229270:A73T	A	+	1	0	TPI1	6847097	0.941000	0.31946	0.994000	0.49952	0.592000	0.36648	1.613000	0.36900	1.156000	0.42514	-0.357000	0.07601	GCC		TCGA-IB-7651-01A-11D-2154-08	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	1	0	0	34	117	0	25	1	1	841	1597	0	25	2		0	0	0	0	0	2	1	1	33	117	0	24	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TPI1	7167	broad.mit.edu	37	12	6979528	6979528	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6979528T>G	ENST00000229270.4	+	7	1179	c.842T>G	c.(841-843)aTc>aGc	p.I281S	TPI1_ENST00000396705.5_Missense_Mutation_p.I244S|TPI1_ENST00000535434.1_Missense_Mutation_p.I162S|TPI1_ENST00000488464.2_Missense_Mutation_p.I162S	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1			19					TTCGTGGACATCATCAATGCC	0.577000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000229270.4	0	1	hg19	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687550	0.88639	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.96073	-3.9;-3.9;-3.9	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	D	0.98738	0.9576	H	0.98936	4.375	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.99581	1.0973	10	0.87932	D	0	.	15.392	0.74751	0.0:0.0:0.0:1.0	.	281	P60174	TPIS_HUMAN	S	281;244;162	ENSP00000229270:I281S;ENSP00000379933:I244S;ENSP00000443599:I162S	ENSP00000229270:I281S	I	+	2	0	TPI1	6849789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.944000	0.87722	2.117000	0.64856	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	1	0	1	34	216	0	57	1	1	830	2815	0	57	2		0	0	0	0	0	2	1	1	33	203	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999401	0.990000	1	9.900000e-01	1
CCT2	10576	broad.mit.edu	37	12	69987317	69987317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69987317G>A	ENST00000299300.6	+	10	1094	c.906G>A	c.(904-906)caG>caA	p.Q302Q	CCT2_ENST00000543146.2_Silent_p.Q255Q|CCT2_ENST00000544368.2_Silent_p.Q302Q	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)			24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		ATCCTGAACAGCTCTTTGGTG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000299300.6	1	1	hg19	CCDS8991.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	1	0	0	17	349	0	53	1	9.999921e-01	34	395	0	53	2		0	0	0	0	0	2	1	9.999628e-01	16	344	0	53	2								-4.740677	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.560000	0.340000	1.000000	0.540000	0.599346	0.560000	0	4.400000e-01	7.400000e-01
CCT2	10576	broad.mit.edu	37	12	69990949	69990949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69990949C>T	ENST00000299300.6	+	11	1184	c.996C>T	c.(994-996)gcC>gcT	p.A332A	CCT2_ENST00000543146.2_Silent_p.A285A|CCT2_ENST00000544368.2_Silent_p.A332A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)			24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		GTGAAATTGCCTCTACCTTTG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000299300.6	0	1	hg19	CCDS8991.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	0	0	0	17	492	0	80	1	9.999578e-01	24	472	0	80	2		0	0	0	0	0	2	1	9.999632e-01	17	487	0	78	2								-3.879856	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.400000	0.240000	1.000000	0.390000	0.451130	0.400000	0	3.100000e-01	5.400000e-01
CCT2	10576	broad.mit.edu	37	12	69991040	69991040	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991040T>G	ENST00000299300.6	+	11	1275	c.1087T>G	c.(1087-1089)Tct>Gct	p.S363A	CCT2_ENST00000543146.2_Missense_Mutation_p.S316A|CCT2_ENST00000544368.2_Missense_Mutation_p.S363A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)			24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		CATTCACTTTTCTGGGGTTGC	0.408000																								0							SO:0001583	missense			ENST00000299300.6	1	1	hg19	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964249	0.92791	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.67865	-0.29;-0.29;-0.29	6.16	6.16	0.99307	.	0.154543	0.64402	D	0.000012	D	0.85062	0.5611	M	0.93898	3.47	0.58432	D	0.999999	P;P	0.43094	0.799;0.69	P;P	0.57776	0.827;0.786	D	0.87706	0.2563	9	.	.	.	-28.6863	15.3771	0.74615	0.0:0.0:0.0:1.0	.	363;363	F5GWF6;P78371	.;TCPB_HUMAN	A	363;363;316	ENSP00000299300:S363A;ENSP00000441847:S363A;ENSP00000445471:S316A	.	S	+	1	0	CCT2	68277307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.692000	0.84203	2.367000	0.80283	0.528000	0.53228	TCT		TCGA-IB-7651-01A-11D-2154-08	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	0	0	1	146	684	0	181	1	1	166	372	0	181	2		0	0	0	0	0	2	1	1	144	669	0	178	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCT2	10576	broad.mit.edu	37	12	69991508	69991508	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991508C>T	ENST00000299300.6	+	12	1381	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	CCT2_ENST00000543146.2_Missense_Mutation_p.A351V|CCT2_ENST00000544368.2_Missense_Mutation_p.A398V	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)			24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		TGTGTTCTTGCGCAAACTGTA	0.333000																								0							SO:0001583	missense			ENST00000299300.6	0	1	hg19	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957341	0.53400	2.27E-4	2.33E-4	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.79141	-1.24;-1.24;-1.24	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	L	0.38175	1.15	0.80722	D	1	B;B	0.34103	0.437;0.26	B;B	0.16722	0.015;0.016	T	0.65071	-0.6257	9	.	.	.	-33.0295	20.2985	0.98592	0.0:1.0:0.0:0.0	.	398;398	F5GWF6;P78371	.;TCPB_HUMAN	V	398;398;351	ENSP00000299300:A398V;ENSP00000441847:A398V;ENSP00000445471:A351V	.	A	+	2	0	CCT2	68277775	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	7.435000	0.80391	2.793000	0.96121	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	0	0	0	10	363	0	59	1	9.997088e-01	14	547	0	59	2		0	0	0	0	0	2	1	9.966238e-01	8	357	0	59	2								-3.010413	1	1	121410	29	46	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.330000	0.160000	1.000000	0.310000	0.385347	0.330000	0	2.400000e-01	4.800000e-01
BEST3	144453	broad.mit.edu	37	12	70049199	70049199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049199G>T	ENST00000330891.5	-	10	1721	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.L286M|BEST3_ENST00000553096.1_Missense_Mutation_p.L393M	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3			12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		TCAGGTACCAGTGGCATTTTG	0.547000																								0							SO:0001583	missense			ENST00000330891.5	1	1	hg19	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153276	0.06585	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97906	-4.25;-4.6;-4.56	5.5	4.59	0.56863	.	0.763157	0.12006	N	0.508283	D	0.92714	0.7684	N	0.08118	0	0.19575	N	0.999961	B;B	0.14438	0.01;0.0	B;B	0.04013	0.001;0.001	D	0.86400	0.1741	10	0.46703	T	0.11	-2.0894	10.0521	0.42221	0.0:0.1495:0.6955:0.155	.	499;286	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	286;499;393	ENSP00000433213:L286M;ENSP00000332413:L499M;ENSP00000449548:L393M	ENSP00000332413:L499M	L	-	1	2	BEST3	68335466	0.014000	0.17966	0.021000	0.16686	0.017000	0.09413	1.913000	0.39956	1.267000	0.44247	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	1	0	1	82	707	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1	82	692	0	135	2								-19.999990	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.998911	0.990000	1	9.900000e-01	1
BEST3	144453	broad.mit.edu	37	12	70049400	70049400	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049400C>A	ENST00000330891.5	-	10	1520	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.A219S|BEST3_ENST00000553096.1_Missense_Mutation_p.A326S	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3			12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		AGGTCCCTGGCTGGGCTGAGG	0.597000																								0							SO:0001583	missense			ENST00000330891.5	1	1	hg19	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338624	0.05243	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97811	-4.19;-4.55;-4.51	5.63	-4.84	0.03151	.	0.900902	0.09621	N	0.777552	D	0.93996	0.8077	L	0.41236	1.265	0.18873	N	0.999989	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.82104	-0.0622	10	0.10902	T	0.67	-4.3232	14.9908	0.71387	0.0:0.22:0.0:0.78	.	432;219	Q8N1M1;B5MDI8	BEST3_HUMAN;.	S	219;432;326	ENSP00000433213:A219S;ENSP00000332413:A432S;ENSP00000449548:A326S	ENSP00000332413:A432S	A	-	1	0	BEST3	68335667	0.001000	0.12720	0.004000	0.12327	0.021000	0.10359	-1.100000	0.03339	-0.816000	0.04340	-0.140000	0.14226	GCC		TCGA-IB-7651-01A-11D-2154-08	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	1	0	0	42	423	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	40	407	0	91	2								-3.221883	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.790000	1.000000	1.000000	0.972612	0.990000	1	9.200000e-01	1
RAB3IP	117177	broad.mit.edu	37	12	70149351	70149351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149351G>A	ENST00000247833.7	+	2	539	c.163G>A	c.(163-165)Gca>Aca	p.A55T	RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T|RAB3IP_ENST00000550536.1_Missense_Mutation_p.A71T|RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000325555.9_5'UTR					RAB3A interacting protein			22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		ACCTATCCAGGCAAATGCATT	0.443000																								0							SO:0001583	missense			ENST00000247833.7	0	1	hg19	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759935	0.69763	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.47869	0.84;0.83	5.93	5.0	0.66597	.	0.258959	0.44688	D	0.000438	T	0.36496	0.0969	N	0.24115	0.695	0.80722	D	1	P;P;P;P	0.38504	0.634;0.546;0.493;0.634	B;B;B;B	0.39258	0.295;0.133;0.295;0.295	T	0.11348	-1.0591	10	0.30854	T	0.27	.	15.3984	0.74816	0.0:0.2576:0.7424:0.0	.	71;71;55;55	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	T	55;55;55;55;71;71	ENSP00000247833:A55T;ENSP00000447300:A71T	ENSP00000247833:A55T	A	+	1	0	RAB3IP	68435618	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.265000	0.43311	2.814000	0.96858	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	0	0	1	9	395	0	72	1	6.171844e-01	9	79	0	72	2		0	0	0	0	0	2	1	9.937966e-01	9	387	0	72	2								-3.031828	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.280000	0.130000	1.000000	0.260000	0.334145	0.280000	0	1.900000e-01	4.100000e-01
RAB3IP	117177	broad.mit.edu	37	12	70149369	70149369	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149369T>C	ENST00000247833.7	+	2	557	c.181T>C	c.(181-183)Tct>Cct	p.S61P	RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P|RAB3IP_ENST00000550536.1_Missense_Mutation_p.S77P|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000325555.9_5'UTR					RAB3A interacting protein			22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		ATTAGATGTTTCTGAACTTCC	0.418000																								0							SO:0001583	missense			ENST00000247833.7	1	1	hg19	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897894	0.72639	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.49139	0.8;0.79	5.93	5.93	0.95920	.	0.104008	0.64402	D	0.000003	T	0.40247	0.1109	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.53151	0.958;0.895;0.958;0.958	B;B;B;B	0.44044	0.439;0.422;0.277;0.439	T	0.39251	-0.9623	10	0.66056	D	0.02	.	12.843	0.57813	0.0:0.0:0.1359:0.8641	.	77;77;61;61	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	P	61;61;61;61;77;77	ENSP00000247833:S61P;ENSP00000447300:S77P	ENSP00000247833:S61P	S	+	1	0	RAB3IP	68435636	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.381000	0.52455	2.271000	0.75665	0.533000	0.62120	TCT		TCGA-IB-7651-01A-11D-2154-08	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	1	0	1	72	320	0	62	1	9.999942e-01	37	43	0	62	2		0	0	0	0	0	2	1	1	72	311	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB3IP	117177	broad.mit.edu	37	12	70206614	70206614	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70206614A>G	ENST00000247833.7	+	9	1563	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G	RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000550536.1_Missense_Mutation_p.D412G|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G					RAB3A interacting protein			22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		AAATTAGGGGACTCAAGCAAC	0.328000																								0							SO:0001583	missense			ENST00000247833.7	1	1	hg19	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.664593|4.664593	0.88251|0.88251	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847|ENST00000526994	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77545|0.77545	0.4146|0.4146	M|M	0.80508|0.80508	2.5|2.5	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.77004|.	0.989|.	T|T	0.78768|0.78768	-0.2075|-0.2075	10|5	0.51188|.	T|.	0.08|.	.|.	16.0977|16.0977	0.81139|0.81139	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	412|.	Q96QF0|.	RAB3I_HUMAN|.	G|A	396;190;412;190;190;103|128	ENSP00000247833:D396G;ENSP00000323349:D190G;ENSP00000447300:D412G;ENSP00000448773:D190G;ENSP00000448027:D190G;ENSP00000448102:D103G|.	ENSP00000447336:D37G|.	D|T	+|+	2|1	0|0	RAB3IP|RAB3IP	68492881|68492881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.962000|8.962000	0.93254|0.93254	2.216000|2.216000	0.71823|0.71823	0.528000|0.528000	0.53228|0.53228	GAC|ACT		TCGA-IB-7651-01A-11D-2154-08	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	1	0	1	74	318	0	63	1	9.999615e-01	3	63	0	63	2		0	0	0	0	0	2	1	1	73	315	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATN1	1822	broad.mit.edu	37	12	7045789	7045789	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045789C>A	ENST00000356654.4	+	5	1596	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	ATN1_ENST00000396684.2_Silent_p.A453A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1			40					GCCTCTTAGCCAACAGCAATG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000356654.4	1	1	hg19	CCDS31734.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	1	0	1	268	1321	0	331	1	1	59	312	0	331	2		0	0	0	0	0	2	1	1	257	1239	0	323	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATN1	1822	broad.mit.edu	37	12	7045981	7045981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045981C>T	ENST00000356654.4	+	5	1788	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	ATN1_ENST00000396684.2_Silent_p.H517H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1			40					CATTTCCCCACCCACTGGAGG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000356654.4	1	1	hg19	CCDS31734.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	1	0	0	119	639	0	143	1	1	57	317	0	143	2		0	0	0	0	0	2	1	1	117	619	0	141	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATN1	1822	broad.mit.edu	37	12	7046106	7046106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7046106G>T	ENST00000356654.4	+	5	1913	c.1676G>T	c.(1675-1677)aGc>aTc	p.S559I	ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1			40					GTGTCCTACAGCCAAGCAGGC	0.622000																								0							SO:0001583	missense			ENST00000356654.4	1	1	hg19	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	7.124	0.578461	0.13686	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.55930	0.49;0.49;0.49	3.46	2.53	0.30540	.	0.187035	0.25753	U	0.028527	T	0.33440	0.0863	N	0.22421	0.69	0.33143	D	0.544626	B	0.09022	0.002	B	0.11329	0.006	T	0.30060	-0.9991	10	0.33141	T	0.24	.	6.7927	0.23709	0.0942:0.0:0.7335:0.1723	.	559	P54259	ATN1_HUMAN	I	559;559;559;144	ENSP00000349076:S559I;ENSP00000379915:S559I;ENSP00000441744:S559I	ENSP00000229279:S144I	S	+	2	0	ATN1	6916367	0.978000	0.34361	1.000000	0.80357	0.608000	0.37181	1.073000	0.30691	0.751000	0.32900	0.586000	0.80456	AGC		TCGA-IB-7651-01A-11D-2154-08	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	1	0	1	108	450	0	131	1	1	67	236	0	131	2		0	0	0	0	0	2	1	1	107	434	0	128	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATN1	1822	broad.mit.edu	37	12	7047972	7047972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7047972G>A	ENST00000356654.4	+	7	3083	c.2846G>A	c.(2845-2847)gGc>gAc	p.G949D	ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1			40					CTCAAGCCTGGCTTTGAGGTG	0.647000																								0							SO:0001583	missense			ENST00000356654.4	1	1	hg19	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838724	0.91117	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.52295	0.67;0.67;0.67	4.91	4.91	0.64330	.	0.000000	0.34603	U	0.003829	T	0.67590	0.2909	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69499	-0.5129	10	0.66056	D	0.02	.	18.7426	0.91779	0.0:0.0:1.0:0.0	.	949	P54259	ATN1_HUMAN	D	949;949;949;534	ENSP00000349076:G949D;ENSP00000379915:G949D;ENSP00000441744:G949D	ENSP00000229279:G534D	G	+	2	0	ATN1	6918233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.235000	0.95353	2.731000	0.93534	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	1	0	1	76	438	0	89	1	1	41	274	0	89	2		0	0	0	0	0	2	1	1	75	433	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN6	5777	broad.mit.edu	37	12	7061307	7061307	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7061307A>G	ENST00000318974.9	+	3	537	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C|PTPN6_ENST00000456013.1_Missense_Mutation_p.Y98C	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6			18					CACCTCAAGTACCCGCTGAAC	0.627000																								0							SO:0001583	missense			ENST00000318974.9	1	1	hg19	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.381149	0.61845	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	4.37	4.37	0.52481	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	M	0.63843	1.955	0.58432	D	0.999999	P;B;P;B;P	0.43607	0.812;0.444;0.802;0.184;0.701	P;B;B;B;B	0.46659	0.523;0.44;0.44;0.184;0.343	D	0.95169	0.8288	10	0.46703	T	0.11	.	13.5971	0.61996	1.0:0.0:0.0:0.0	.	86;59;98;98;100	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	C	119;100;59;98;98;98;98;98;57	ENSP00000443393:Y119C;ENSP00000382376:Y100C;ENSP00000415979:Y59C;ENSP00000438740:Y98C;ENSP00000326010:Y98C;ENSP00000391592:Y98C;ENSP00000444337:Y98C;ENSP00000445646:Y98C;ENSP00000440114:Y57C	ENSP00000326010:Y98C	Y	+	2	0	PTPN6	6931568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.612000	0.50221	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	0	0	1	62	446	1	113	1	9.960572e-01	24	138	1	113	9		0	0	0	0	0	2	1	9.999988e-01	61	443	1	112	22								-19.999650	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999764	0.990000	1	9.900000e-01	1
PTPN6	5777	broad.mit.edu	37	12	7064578	7064578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7064578G>A	ENST00000318974.9	+	6	921	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q|PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q|PTPN6_ENST00000456013.1_Missense_Mutation_p.R226Q	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6			18					ATTGAGAACCGAGTGTTGGAA	0.582000																								0							SO:0001583	missense			ENST00000318974.9	1	1	hg19	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804738	0.96967	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.15372	2.5;2.45;2.45;2.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999	T	0.54702	-0.8254	10	0.56958	D	0.05	.	18.6319	0.91363	0.0:0.0:1.0:0.0	.	214;187;226;226;228	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	Q	228;187;226;226	ENSP00000382376:R228Q;ENSP00000415979:R187Q;ENSP00000326010:R226Q;ENSP00000391592:R226Q	ENSP00000326010:R226Q	R	+	2	0	PTPN6	6934839	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.336000	0.96533	2.465000	0.83290	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	1	0	1	138	730	0	187	1	1	34	170	0	187	2		0	0	0	0	0	2	1	1	137	712	0	185	2								-3.222350	1	1	121026	1	29	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN6	5777	broad.mit.edu	37	12	7066930	7066930	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7066930G>T	ENST00000318974.9	+	10	1432	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q396H	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6			18					GTACCTTACAGGTCTCCCCGC	0.607000																								0							SO:0001583	missense			ENST00000318974.9	1	1	hg19	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	4.359	0.066189	0.08388	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.08	3.24	0.37175	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.505646	0.20813	N	0.085210	T	0.72179	0.3428	N	0.21282	0.65	0.24333	N	0.994999	B;B;B;B;B	0.21225	0.053;0.002;0.009;0.001;0.003	B;B;B;B;B	0.20184	0.028;0.007;0.011;0.013;0.011	T	0.59096	-0.7518	10	0.42905	T	0.14	.	11.9817	0.53123	0.0:0.3944:0.4492:0.1564	.	384;357;396;396;398	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	H	398;357;396;396	ENSP00000382376:Q398H;ENSP00000415979:Q357H;ENSP00000326010:Q396H;ENSP00000391592:Q396H	ENSP00000326010:Q396H	Q	+	3	2	PTPN6	6937191	0.699000	0.27786	0.827000	0.32855	0.302000	0.27658	0.183000	0.16919	0.171000	0.19730	-1.268000	0.01426	CAG		TCGA-IB-7651-01A-11D-2154-08	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	1	0	1	58	171	0	44	1	1	54	199	0	44	2		0	0	0	0	0	2	1	1	58	170	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT2	4848	broad.mit.edu	37	12	70731292	70731292	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70731292C>A	ENST00000418359.3	+	10	1350	c.899C>A	c.(898-900)tCt>tAt	p.S300Y	CNOT2_ENST00000229195.3_Splice_Site_p.S300Y|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2			20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		GACAGTAAATCTGTAAGTAAC	0.328000																								0							SO:0001630	splice_region_variant			ENST00000418359.3	1	0	hg19	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779111	0.70107	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.94	5.94	0.96194	.	0.094664	0.85682	D	0.000000	T	0.69620	0.3131	L	0.43152	1.355	0.80722	D	1	P;P	0.51351	0.944;0.898	P;B	0.44811	0.461;0.252	T	0.68522	-0.5386	10	0.39692	T	0.17	-7.0559	20.3501	0.98811	0.0:1.0:0.0:0.0	.	300;300	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	Y	300;300;300;163;239;291;300;110	ENSP00000450318:S300Y;ENSP00000229195:S300Y;ENSP00000412091:S300Y;ENSP00000448490:S163Y;ENSP00000447497:S239Y;ENSP00000449659:S291Y;ENSP00000449260:S300Y;ENSP00000448499:S110Y	ENSP00000229195:S300Y	S	+	2	0	CNOT2	69017559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.807000	0.96579	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1	1	0	1	36	291	0	61	1	9.999929e-01	10	138	0	61	2		0	0	0	0	0	2	1	1	35	285	0	61	2								-14.366410	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.940000	1.000000	1.000000	0.996577	0.990000	1	9.900000e-01	1
KCNMB4	27345	broad.mit.edu	37	12	70760741	70760741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70760741G>A	ENST00000258111.4	+	1	686	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4			10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)	Miconazole(DB01110)|Procaine(DB00721)	GGCGCCGACTGCAGGGGCACC	0.637000																								0							SO:0001583	missense			ENST00000258111.4	1	1	hg19	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994370	0.74703	.	.	ENSG00000135643	ENST00000258111	T	0.13538	2.58	3.37	2.44	0.29823	.	0.055295	0.64402	D	0.000001	T	0.26048	0.0635	M	0.74647	2.275	0.49130	D	0.999751	D	0.55385	0.971	P	0.52109	0.69	T	0.03910	-1.0993	10	0.66056	D	0.02	-5.2443	11.7488	0.51837	0.0:0.0:0.8218:0.1782	.	76	Q86W47	KCMB4_HUMAN	Y	76	ENSP00000258111:C76Y	ENSP00000258111:C76Y	C	+	2	0	KCNMB4	69047008	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.311000	0.89973	0.472000	0.27344	0.491000	0.48974	TGC		TCGA-IB-7651-01A-11D-2154-08	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	1	0	1	100	396	0	88	1	8.609515e-01	3	13	0	88	2		0	0	0	0	0	2	1	1	100	391	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPCAT3	10162	broad.mit.edu	37	12	7091893	7091893	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7091893G>T	ENST00000261407.4	-	3	395	c.310C>A	c.(310-312)Ctt>Att	p.L104I	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3			17					ATTAGTCGAAGGATGAGGAAC	0.517000																								0							SO:0001583	missense			ENST00000261407.4	1	1	hg19	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110867	0.77210	.	.	ENSG00000111684	ENST00000261407	T	0.71934	-0.61	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.64170	1.965	0.58432	D	0.999999	D	0.62365	0.991	P	0.51016	0.656	T	0.70464	-0.4864	10	0.17369	T	0.5	-8.131	19.1278	0.93393	0.0:0.0:1.0:0.0	.	104	Q6P1A2	MBOA5_HUMAN	I	104	ENSP00000261407:L104I	ENSP00000261407:L104I	L	-	1	0	LPCAT3	6962154	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.477000	0.60223	2.756000	0.94617	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	1	0	1	24	165	0	52	1	1	79	198	0	52	2		0	0	0	0	0	2	1	9.999997e-01	23	158	0	52	2								-12.175630	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.920000	1.000000	1.000000	0.995809	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70938438	70938438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70938438C>T	ENST00000261266.5	-	20	4768	c.4739G>A	c.(4738-4740)aGc>aAc	p.S1580N	PTPRB_ENST00000334414.6_Missense_Mutation_p.S1798N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1490N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		AGCTCGAATGCTGATTCTGAA	0.368000																								0							SO:0001583	missense			ENST00000261266.5	0	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447575	0.84101	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.77358	0.55;0.55;0.55;-1.09;0.55;0.55	5.44	5.44	0.79542	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	D	0.86793	0.6018	L	0.60455	1.87	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.993;0.997	D	0.87050	0.2146	10	0.59425	D	0.04	.	19.2679	0.93997	0.0:1.0:0.0:0.0	.	1490;1490;1798;1580;1710	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	N	1798;1490;1710;1490;1490;1580	ENSP00000334928:S1798N;ENSP00000393028:S1490N;ENSP00000448058:S1710N;ENSP00000438927:S1490N;ENSP00000447302:S1490N;ENSP00000261266:S1580N	ENSP00000261266:S1580N	S	-	2	0	PTPRB	69224705	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.810000	0.75216	2.563000	0.86464	0.585000	0.79938	AGC		TCGA-IB-7651-01A-11D-2154-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	0	0	0	23	106	0	29	0	9.939588e-01	0	41	0	29	2		0	0	0	0	0	2	1	9.999997e-01	22	105	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70949649	70949649	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70949649C>T	ENST00000261266.5	-	17	4369		c.e17+1		PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		GGGACACTTACGGTCTATCAT	0.522000																								0							SO:0001630	splice_region_variant			ENST00000261266.5	1	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829620	0.91036	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5187	0.95176	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRB	69235916	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.169000	0.77578	2.609000	0.88269	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1	20	90	0	28	0	0	1	0	0	28	2		0	0	0	0	0	2	1	9.999972e-01	20	88	0	28	2								-13.968650	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999922	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70953185	70953185	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953185T>G	ENST00000261266.5	-	16	4027	c.3998A>C	c.(3997-3999)aAg>aCg	p.K1333T	PTPRB_ENST00000334414.6_Missense_Mutation_p.K1551T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		ACTGACAGTCTTGACGTTGAA	0.413000																								0							SO:0001583	missense			ENST00000261266.5	1	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	9.706	1.155820	0.21454	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.84	-0.86	0.10680	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.323996	0.35151	N	0.003420	T	0.35566	0.0936	L	0.36672	1.1	0.28383	N	0.919434	B;B;B;B;B;P	0.39060	0.222;0.12;0.03;0.101;0.07;0.657	B;B;B;B;B;B	0.36922	0.173;0.173;0.049;0.171;0.18;0.236	T	0.34104	-0.9842	10	0.21540	T	0.41	.	10.3196	0.43758	0.0:0.5443:0.0:0.4557	.	1243;1243;1550;1551;1333;1463	P23467-2;F5H3G6;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	T	1551;1243;1463;1243;1243;1333;1550	ENSP00000334928:K1551T;ENSP00000393028:K1243T;ENSP00000448058:K1463T;ENSP00000438927:K1243T;ENSP00000447302:K1243T;ENSP00000261266:K1333T;ENSP00000448349:K1550T	ENSP00000261266:K1333T	K	-	2	0	PTPRB	69239452	0.999000	0.42202	0.994000	0.49952	0.639000	0.38242	0.880000	0.28159	-0.098000	0.12285	-0.290000	0.09829	AAG		TCGA-IB-7651-01A-11D-2154-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1	192	709	0	185	0	9.997777e-01	0	47	0	185	2		0	0	0	0	0	2	1	1	191	700	0	185	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70953285	70953285	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953285T>C	ENST00000261266.5	-	16	3927	c.3898A>G	c.(3898-3900)Aga>Gga	p.R1300G	PTPRB_ENST00000334414.6_Missense_Mutation_p.R1518G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		AGTGCATCTCTGGGCAACCAC	0.478000																								0							SO:0001583	missense			ENST00000261266.5	1	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	8.024	0.760358	0.15914	0.0	2.4E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;3.64	6.11	0.985	0.19779	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.464614	0.25789	N	0.028297	T	0.33294	0.0858	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.002;0.001;0.004	B;B;B;B;B;B;B	0.12837	0.008;0.008;0.005;0.002;0.005;0.008;0.007	T	0.17899	-1.0354	10	0.20046	T	0.44	.	10.0031	0.41940	0.0:0.0624:0.4667:0.4709	.	1210;1210;1397;1517;1518;1300;1430	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	G	1518;1210;1430;1210;1210;1300;1517;1397	ENSP00000334928:R1518G;ENSP00000393028:R1210G;ENSP00000448058:R1430G;ENSP00000438927:R1210G;ENSP00000447302:R1210G;ENSP00000261266:R1300G;ENSP00000448349:R1517G;ENSP00000446982:R1397G	ENSP00000261266:R1300G	R	-	1	2	PTPRB	69239552	0.000000	0.05858	0.015000	0.15790	0.331000	0.28603	0.325000	0.19628	-0.059000	0.13154	-0.316000	0.08728	AGA		TCGA-IB-7651-01A-11D-2154-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1	190	741	0	174	1	9.999987e-01	2	73	0	174	2		0	0	0	0	0	2	1	1	189	728	0	172	2								-20.000000	1	0	120902	11	46	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70974816	70974816	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70974816C>A	ENST00000261266.5	-	8	1953	c.1924G>T	c.(1924-1926)Gtc>Ttc	p.V642F	PTPRB_ENST00000334414.6_Splice_Site_p.V860F|PTPRB_ENST00000538708.1_Splice_Site_p.V642F|PTPRB_ENST00000551525.1_Splice_Site_p.V859F|PTPRB_ENST00000451516.2_Splice_Site_p.V552F|PTPRB_ENST00000550358.1_Splice_Site_p.V860L|PTPRB_ENST00000550857.1_Splice_Site_p.V552F	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		TACTTCTTACCTGTTCTTCCC	0.453000																								0							SO:0001630	splice_region_variant			ENST00000261266.5	1	0	hg19	CCDS44944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043851|5.043851	0.93685|0.93685	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122|ENST00000550358;ENST00000544694	T;T;T;T;T;T;T|T	0.05447|0.04862	3.44;3.44;3.44;3.44;3.44;3.44;3.44|3.54	5.86|5.86	5.86|5.86	0.93980|0.93980	Fibronectin, type III (1);Immunoglobulin-like fold (1);|.	0.260319|0.260319	0.38897|0.38897	N|N	0.001529|0.001529	T|T	0.22781|0.22781	0.0550|0.0550	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|P	0.89917|0.36733	0.998;0.998;0.997;0.997;1.0;0.997|0.567	D;D;D;D;D;D|P	0.78314|0.47915	0.983;0.983;0.969;0.976;0.991;0.929|0.561	T|T	0.00166|0.00166	-1.1966|-1.1966	9|9	.|.	.|.	.|.	.|.	20.1986|20.1986	0.98248|0.98248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;642;739;859;860;642|860	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467|F8VU56	.;.;.;.;.;PTPRB_HUMAN|.	F|L	860;552;642;552;642;859;739|860	ENSP00000334928:V860F;ENSP00000393028:V552F;ENSP00000438927:V642F;ENSP00000447302:V552F;ENSP00000261266:V642F;ENSP00000448349:V859F;ENSP00000446982:V739F|ENSP00000448058:V860L	.|.	V|V	-|-	1|1	0|0	PTPRB|PTPRB	69261083|69261083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.131000|7.131000	0.77243|0.77243	2.781000|2.781000	0.95711|0.95711	0.650000|0.650000	0.86243|0.86243	GTC|GTG		TCGA-IB-7651-01A-11D-2154-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1	46	218	0	74	0	9.343497e-01	0	24	0	74	2		0	0	0	0	0	2	1	1	45	211	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70980889	70980889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70980889C>T	ENST00000261266.5	-	7	1584	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	PTPRB_ENST00000334414.6_Missense_Mutation_p.E737K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		AAAGTGAATTCTTTGGCATCT	0.433000																								0							SO:0001583	missense			ENST00000261266.5	1	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109322	0.56398	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052530	0.64402	D	0.000001	T	0.73628	0.3611	M	0.79926	2.475	0.58432	D	0.999998	D;D;P;D;D;D;D	0.76494	0.996;0.996;0.921;0.989;0.995;0.996;0.999	D;D;P;D;D;D;D	0.70935	0.947;0.947;0.845;0.92;0.911;0.947;0.971	T	0.73717	-0.3895	10	0.35671	T	0.21	.	18.5628	0.91107	0.0:1.0:0.0:0.0	.	429;519;616;736;737;519;737	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	K	737;429;737;737;519;429;519;736;616	ENSP00000334928:E737K;ENSP00000393028:E429K;ENSP00000448058:E737K;ENSP00000438927:E519K;ENSP00000447302:E429K;ENSP00000261266:E519K;ENSP00000448349:E736K;ENSP00000446982:E616K	ENSP00000261266:E519K	E	-	1	0	PTPRB	69267156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.273000	0.72581	2.368000	0.80403	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1	66	277	0	62	1	9.960899e-01	3	35	0	62	2		0	0	0	0	0	2	1	1	66	273	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70986112	70986112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986112C>A	ENST00000261266.5	-	5	1105	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	PTPRB_ENST00000334414.6_Missense_Mutation_p.S577I|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I|PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		AGAGACACAGCTGACAGTAAC	0.463000																								0							SO:0001583	missense			ENST00000261266.5	1	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608439	0.46527	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.75	2.7	0.31948	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549706	0.21306	N	0.076726	T	0.58452	0.2123	L	0.43646	1.37	0.20975	N	0.999811	P;P;P;D;P;P;P;P	0.63880	0.567;0.567;0.666;0.993;0.7;0.567;0.621;0.658	P;P;P;P;P;P;P;P	0.62740	0.481;0.481;0.772;0.906;0.586;0.481;0.493;0.578	T	0.51293	-0.8724	10	0.22109	T	0.4	.	12.6582	0.56799	0.0:0.7041:0.2297:0.0662	.	359;359;456;577;576;577;359;577	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	I	577;359;577;577;359;359;359;576;456	ENSP00000334928:S577I;ENSP00000393028:S359I;ENSP00000448058:S577I;ENSP00000438927:S359I;ENSP00000447302:S359I;ENSP00000261266:S359I;ENSP00000448349:S576I;ENSP00000446982:S456I	ENSP00000261266:S359I	S	-	2	0	PTPRB	69272379	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	2.376000	0.44292	0.771000	0.33359	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	1	69	338	0	85	1	9.910114e-01	2	36	0	85	2		0	0	0	0	0	2	1	1	69	333	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70986244	70986244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986244C>A	ENST00000261266.5	-	5	973	c.944G>T	c.(943-945)gGa>gTa	p.G315V	PTPRB_ENST00000334414.6_Missense_Mutation_p.G533V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		ATCCACATTTCCAGGAGGTCT	0.413000																								0							SO:0001583	missense			ENST00000261266.5	1	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589837	0.86851	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.29549	-1.0008	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	315;315;412;533;532;533;315;533	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	V	533;315;533;533;315;315;315;532;412	ENSP00000334928:G533V;ENSP00000393028:G315V;ENSP00000448058:G533V;ENSP00000438927:G315V;ENSP00000447302:G315V;ENSP00000261266:G315V;ENSP00000448349:G532V;ENSP00000446982:G412V	ENSP00000261266:G315V	G	-	2	0	PTPRB	69272511	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.677000	0.68142	2.832000	0.97577	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	1	0	0	11	193	0	44	0	5.300344e-01	0	31	0	44	2		0	0	0	0	0	2	1	9.984728e-01	11	193	0	44	2								-13.875780	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.660000	0.350000	1.000000	1.000000	0.689806	0.660000	0	4.900000e-01	9.200000e-01
C1S	716	broad.mit.edu	37	12	7169900	7169900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7169900G>T	ENST00000406697.1	+	6	755	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*|C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*|C1S_ENST00000402681.3_Intron			P09871	C1S_HUMAN	complement component 1, s subcomponent			33				Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGGGACATAGAAGTTCCTGA	0.473000													GBM(156;750 1943 12971 24779 31015)											0							SO:0001587	stop_gained			ENST00000406697.1	0	1	hg19	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	41	8.566988	0.98866	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000423384;ENST00000413211;ENST00000403949	.	.	.	5.77	3.45	0.39498	.	0.000000	0.43919	D	0.000504	.	.	.	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.3174	0.11000	0.089:0.2754:0.5153:0.1204	.	.	.	.	X	43;43;43;25;43;43;43	.	ENSP00000328173:E43X	E	+	1	0	C1S	7040161	0.002000	0.14202	0.996000	0.52242	0.976000	0.68499	0.258000	0.18387	2.724000	0.93272	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	0	63	361	0	112	0	1	1	2460	0	112	2		0	0	0	0	0	2	1	1	64	359	0	112	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
C1S	716	broad.mit.edu	37	12	7173250	7173250	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7173250T>C	ENST00000406697.1	+	10	1475	c.847T>C	c.(847-849)Tgg>Cgg	p.W283R	C1S_ENST00000328916.3_Missense_Mutation_p.W283R|C1S_ENST00000360817.5_Missense_Mutation_p.W283R|C1S_ENST00000402681.3_Missense_Mutation_p.W116R			P09871	C1S_HUMAN	complement component 1, s subcomponent			33				Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AAAAAAGGGCTGGAAACTTCG	0.428000													GBM(156;750 1943 12971 24779 31015)											0							SO:0001583	missense			ENST00000406697.1	1	1	hg19	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955948	0.73902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.75	5.75	0.90469	CUB (5);	0.000000	0.39687	N	0.001290	T	0.53802	0.1819	M	0.89478	3.035	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.62978	-0.6739	10	0.87932	D	0	.	15.2367	0.73436	0.0:0.0:0.0:1.0	.	283	P09871	C1S_HUMAN	R	283;283;283;271;116;116	ENSP00000385035:W283R;ENSP00000328173:W283R;ENSP00000354057:W283R;ENSP00000384171:W116R;ENSP00000442298:W116R	ENSP00000328173:W283R	W	+	1	0	C1S	7043511	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.857000	0.69525	2.185000	0.69588	0.459000	0.35465	TGG		TCGA-IB-7651-01A-11D-2154-08	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1	51	331	0	73	1	1	7	2314	0	73	2		0	0	0	0	0	2	1	1	50	325	0	73	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999895	0.990000	1	9.900000e-01	1
C1S	716	broad.mit.edu	37	12	7177355	7177355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177355C>T	ENST00000406697.1	+	15	2095	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Silent_p.S489S|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000402681.3_Silent_p.S322S			P09871	C1S_HUMAN	complement component 1, s subcomponent			33				Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATGTTGGGTCCACCTCAGTGC	0.537000													GBM(156;750 1943 12971 24779 31015)											0							SO:0001819	synonymous_variant			ENST00000406697.1	1	1	hg19	CCDS31735.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1	26	142	0	38	1	1	107	3190	0	38	2		0	0	0	0	0	2	1	1	26	142	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999481	0.990000	1	9.900000e-01	1
C1S	716	broad.mit.edu	37	12	7177578	7177578	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177578C>A	ENST00000406697.1	+	15	2318	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	C1S_ENST00000328916.3_Missense_Mutation_p.L564M|C1S_ENST00000360817.5_Missense_Mutation_p.L564M|C1S_ENST00000402681.3_Missense_Mutation_p.L397M			P09871	C1S_HUMAN	complement component 1, s subcomponent			33				Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGATGGGGACCTGGGACTGAT	0.552000													GBM(156;750 1943 12971 24779 31015)											0							SO:0001583	missense			ENST00000406697.1	1	1	hg19	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040696	0.35989	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.16	2.35	0.29111	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.252645	0.20722	N	0.086888	T	0.73442	0.3587	N	0.12569	0.235	0.09310	N	0.999995	B	0.24882	0.113	B	0.26770	0.073	T	0.57763	-0.7755	10	0.16420	T	0.52	.	3.5999	0.08020	0.1378:0.5849:0.1332:0.1441	.	564	P09871	C1S_HUMAN	M	564;564;564;558;397	ENSP00000385035:L564M;ENSP00000328173:L564M;ENSP00000354057:L564M;ENSP00000384171:L397M	ENSP00000328173:L564M	L	+	1	2	C1S	7047839	0.044000	0.20184	0.241000	0.24154	0.018000	0.09664	0.253000	0.18296	0.330000	0.23485	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1	48	148	0	37	1	1	112	3510	0	37	2		0	0	0	0	0	2	1	1	46	146	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGR5	8549	broad.mit.edu	37	12	71834062	71834062	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71834062A>G	ENST00000266674.5	+	1	513	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000540815.2_Missense_Mutation_p.T68A|LGR5_ENST00000536515.1_Missense_Mutation_p.T68A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5		NUP107/LGR5(2)	48					CAGCGTCTTCACCTCCTACCT	0.632000																								0							SO:0001583	missense			ENST00000266674.5	1	1	hg19	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574483	0.86542	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;D;T	0.90069	3.59;-2.61;4.26	4.79	4.79	0.61399	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.56097	D	0.000035	D	0.86777	0.6014	L	0.28776	0.89	0.41768	D	0.98975	P;P	0.45078	0.802;0.85	P;P	0.49332	0.607;0.507	D	0.86747	0.1958	10	0.39692	T	0.17	.	14.1361	0.65289	1.0:0.0:0.0:0.0	.	68;68	O75473-2;O75473	.;LGR5_HUMAN	A	68	ENSP00000266674:T68A;ENSP00000443033:T68A;ENSP00000441035:T68A	ENSP00000266674:T68A	T	+	1	0	LGR5	70120329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.387000	0.79785	2.007000	0.58848	0.402000	0.26972	ACC		TCGA-IB-7651-01A-11D-2154-08	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	0	0	0	10	294	0	46	0	4.941129e-02	0	10	0	46	2		0	0	0	0	0	2	1	9.967469e-01	10	290	0	45	2								-10.732690	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.410000	0.200000	1.000000	0.390000	0.456592	0.410000	0	2.900000e-01	5.800000e-01
LGR5	8549	broad.mit.edu	37	12	71972657	71972657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71972657G>T	ENST00000266674.5	+	15	1665	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.G428*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.G380*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5		NUP107/LGR5(2)	48					AAAATTAACAGGAAATCATGC	0.363000																								0							SO:0001587	stop_gained			ENST00000266674.5	0	1	hg19	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681761	0.96774	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	.	.	.	X	452;452;380;428	.	ENSP00000266674:G452X	G	+	1	0	LGR5	70258924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.698000	0.91311	2.768000	0.95171	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	0	0	0	12	463	0	84	0	2.483723e-02	0	9	0	84	2		0	0	0	0	0	2	1	9.990668e-01	12	457	0	83	2								-2.212788	0	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.310000	0.160000	1.000000	0.290000	0.363401	0.310000	0	2.300000e-01	4.300000e-01
LGR5	8549	broad.mit.edu	37	12	71978503	71978503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71978503C>T	ENST00000266674.5	+	18	3024	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S	LGR5_ENST00000540815.2_Missense_Mutation_p.P881S|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.P833S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5		NUP107/LGR5(2)	48					GGCATTTGTCCCATGTCTCTA	0.428000																								0							SO:0001583	missense			ENST00000266674.5	1	1	hg19	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317289	0.40996	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.49	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.45216	0.1331	L	0.43923	1.385	0.45822	D	0.998691	B;B	0.33528	0.416;0.292	B;B	0.35278	0.199;0.098	T	0.28267	-1.0049	10	0.10636	T	0.68	.	15.5055	0.75735	0.0:0.9323:0.0:0.0677	.	881;905	O75473-2;O75473	.;LGR5_HUMAN	S	905;833;881	ENSP00000266674:P905S;ENSP00000443033:P833S;ENSP00000441035:P881S	ENSP00000266674:P905S	P	+	1	0	LGR5	70264770	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.815000	0.62634	2.833000	0.97629	0.585000	0.79938	CCA		TCGA-IB-7651-01A-11D-2154-08	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	1	0	1	94	499	0	111	1	4.894517e-01	4	6	0	111	2		0	0	0	0	0	2	1	1	92	483	0	111	2								-3.224213	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFC3H1	196441	broad.mit.edu	37	12	72008644	72008644	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72008644C>A	ENST00000378743.3	-	29	5688	c.5330G>T	c.(5329-5331)aGa>aTa	p.R1777I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					TATATCACATCTCATAGCCAC	0.388000																								0							SO:0001583	missense			ENST00000378743.3	1	1	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036083	0.19590	.	.	ENSG00000133858	ENST00000378743	T	0.32272	1.46	5.2	0.144	0.14824	.	0.130606	0.53938	D	0.000060	T	0.15262	0.0368	N	0.19112	0.55	0.41689	D	0.989331	P	0.41748	0.761	B	0.35413	0.202	T	0.05146	-1.0903	10	0.38643	T	0.18	.	9.4812	0.38902	0.0:0.4191:0.0:0.5809	.	1777	O60293	ZC3H1_HUMAN	I	1777	ENSP00000368017:R1777I	ENSP00000368017:R1777I	R	-	2	0	ZFC3H1	70294911	1.000000	0.71417	0.921000	0.36526	0.258000	0.26162	1.667000	0.37471	0.036000	0.15547	-0.252000	0.11476	AGA		TCGA-IB-7651-01A-11D-2154-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	1	0	1	112	492	0	105	1	9.997928e-01	15	41	0	105	2		0	0	0	0	0	2	1	1	111	473	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFC3H1	196441	broad.mit.edu	37	12	72017193	72017193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72017193T>C	ENST00000378743.3	-	24	5049	c.4691A>G	c.(4690-4692)cAa>cGa	p.Q1564R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					TTGAACAGCTTGCCATGGCAT	0.299000																								0							SO:0001583	missense			ENST00000378743.3	1	1	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	6.614	0.481682	0.12581	.	.	ENSG00000133858	ENST00000378743	T	0.32515	1.45	4.98	3.84	0.44239	.	0.152990	0.45606	D	0.000360	T	0.15046	0.0363	N	0.17082	0.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09164	-1.0687	10	0.13853	T	0.58	.	5.883	0.18866	0.1462:0.0788:0.0:0.775	.	1564	O60293	ZC3H1_HUMAN	R	1564	ENSP00000368017:Q1564R	ENSP00000368017:Q1564R	Q	-	2	0	ZFC3H1	70303460	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.069000	0.50026	0.747000	0.32809	0.460000	0.39030	CAA		TCGA-IB-7651-01A-11D-2154-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	1	0	1	50	228	0	58	1	9.995562e-01	23	33	0	58	2		0	0	0	0	0	2	1	1	50	226	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFC3H1	196441	broad.mit.edu	37	12	72024411	72024411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72024411T>C	ENST00000378743.3	-	18	4051	c.3693A>G	c.(3691-3693)acA>acG	p.T1231T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					CATTAGTACTTGTCTCTGCAC	0.328000																								0							SO:0001819	synonymous_variant			ENST00000378743.3	1	1	hg19	CCDS41813.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	1	0	1	34	172	0	50	1	9.987301e-01	14	41	0	50	2		0	0	0	0	0	2	1	1	33	168	0	50	2								-3.371147	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
ZFC3H1	196441	broad.mit.edu	37	12	72026135	72026135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72026135C>T	ENST00000378743.3	-	15	3335	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					TTTTGTTGTTCCTTTGCTTTA	0.378000																								0							SO:0001583	missense			ENST00000378743.3	1	1	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484524	0.63962	.	.	ENSG00000133858	ENST00000378743	T	0.33438	1.41	5.87	5.87	0.94306	.	0.062950	0.64402	D	0.000007	T	0.27900	0.0687	N	0.24115	0.695	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.02339	-1.1174	10	0.49607	T	0.09	.	20.1793	0.98193	0.0:1.0:0.0:0.0	.	993	O60293	ZC3H1_HUMAN	K	993	ENSP00000368017:E993K	ENSP00000368017:E993K	E	-	1	0	ZFC3H1	70312402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.705000	0.54823	2.779000	0.95612	0.585000	0.79938	GAA		TCGA-IB-7651-01A-11D-2154-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	1	187	912	0	190	1	9.986425e-01	14	35	0	190	2		0	0	0	0	0	2	1	1	182	897	0	188	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFC3H1	196441	broad.mit.edu	37	12	72030364	72030364	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72030364T>C	ENST00000378743.3	-	9	2364	c.2006A>G	c.(2005-2007)aAt>aGt	p.N669S	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					TATTGATAGATTGCTTCTTGG	0.418000																								0							SO:0001583	missense			ENST00000378743.3	1	1	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759292	0.49468	.	.	ENSG00000133858	ENST00000378743	T	0.40225	1.04	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.19112	0.55	0.80722	D	1	P	0.41978	0.767	B	0.40940	0.344	T	0.05007	-1.0912	10	0.23302	T	0.38	.	11.0562	0.47920	0.0:0.0:0.1553:0.8447	.	669	O60293	ZC3H1_HUMAN	S	669	ENSP00000368017:N669S	ENSP00000368017:N669S	N	-	2	0	ZFC3H1	70316631	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.695000	0.61767	1.943000	0.56356	0.383000	0.25322	AAT		TCGA-IB-7651-01A-11D-2154-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	0	13	475	0	77	0	1.614116e-01	1	24	0	77	2		0	0	0	0	0	2	1	9.995119e-01	13	470	0	77	2								-3.438621	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.330000	0.180000	1.000000	0.310000	0.377944	0.330000	0	2.400000e-01	4.500000e-01
ZFC3H1	196441	broad.mit.edu	37	12	72032277	72032277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72032277G>A	ENST00000378743.3	-	7	2004	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					GAAAAATGGCGGTTGCACTGG	0.343000																								0							SO:0001583	missense			ENST00000378743.3	1	1	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101597	0.20632	.	.	ENSG00000133858	ENST00000378743	T	0.30448	1.53	5.39	3.52	0.40303	.	0.401401	0.25680	N	0.029017	T	0.17152	0.0412	N	0.12182	0.205	0.58432	D	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.04191	-1.0970	10	0.32370	T	0.25	.	11.069	0.47993	0.0:0.0:0.6645:0.3355	.	549	O60293	ZC3H1_HUMAN	L	549	ENSP00000368017:P549L	ENSP00000368017:P549L	P	-	2	0	ZFC3H1	70318544	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	1.804000	0.38873	0.603000	0.29913	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	1	0	1	18	69	0	32	1	9.956579e-01	11	27	0	32	2		0	0	0	0	0	2	1	9.999896e-01	17	68	0	32	2								-3.369380	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999951	0.990000	1	9.900000e-01	1
ZFC3H1	196441	broad.mit.edu	37	12	72036294	72036294	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72036294C>G	ENST00000378743.3	-	6	1907	c.1549G>C	c.(1549-1551)Gat>Cat	p.D517H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					CCTCCACTATCAGTAGGTTGC	0.383000																								0							SO:0001583	missense			ENST00000378743.3	0	1	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748941	0.89753	.	.	ENSG00000133858	ENST00000378743	T	0.38077	1.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	N	0.19112	0.55	0.80722	D	1	P	0.47604	0.898	P	0.47786	0.557	T	0.23013	-1.0200	10	0.72032	D	0.01	.	19.6898	0.95996	0.0:1.0:0.0:0.0	.	517	O60293	ZC3H1_HUMAN	H	517	ENSP00000368017:D517H	ENSP00000368017:D517H	D	-	1	0	ZFC3H1	70322561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.705000	0.74644	2.669000	0.90835	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	0	8	499	0	139	1	2.357857e-01	4	48	0	139	2		0	0	0	0	0	2	1	9.888583e-01	8	492	0	139	2								-2.652878	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.200000	0.090000	1.000000	0.190000	0.258487	0.200000	0	1.300000e-01	3.000000e-01
ZFC3H1	196441	broad.mit.edu	37	12	72057309	72057309	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72057309T>G	ENST00000378743.3	-	1	440	c.82A>C	c.(82-84)Agt>Cgt	p.S28R	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|ZFC3H1_ENST00000549407.1_5'Flank|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					TCGTCGTCACTGATTTCCCCA	0.647000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000378743.3	1	1	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751945	0.49362	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.35789	1.29	4.13	4.13	0.48395	.	0.070259	0.56097	D	0.000036	T	0.38931	0.1059	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	P;P;P	0.59288	0.855;0.855;0.72	T	0.38222	-0.9671	10	0.87932	D	0	.	12.7363	0.57225	0.0:0.0:0.0:1.0	.	28;28;28	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	R	28	ENSP00000368017:S28R	ENSP00000368017:S28R	S	-	1	0	ZFC3H1	70343576	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.598000	0.54038	2.104000	0.64026	0.455000	0.32223	AGT		TCGA-IB-7651-01A-11D-2154-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	1	207	1001	0	189	1	9.833147e-01	8	25	0	189	2		0	0	0	0	0	2	1	1	206	980	0	186	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THAP2	83591	broad.mit.edu	37	12	72070775	72070775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72070775C>T	ENST00000308086.2	+	3	2075	c.574C>T	c.(574-576)Cca>Tca	p.P192S	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2			10					ACACATGTTACCAACTGCCTT	0.378000																								0							SO:0001583	missense			ENST00000308086.2	1	1	hg19	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503363	0.85176	.	.	ENSG00000173451	ENST00000308086	D	0.97232	-4.3	6.04	6.04	0.98038	.	0.000000	0.44902	D	0.000415	D	0.95831	0.8643	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93516	0.6857	10	0.12766	T	0.61	.	19.1586	0.93522	0.0:1.0:0.0:0.0	.	192	Q9H0W7	THAP2_HUMAN	S	192	ENSP00000310796:P192S	ENSP00000310796:P192S	P	+	1	0	THAP2	70357042	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.161000	0.50747	2.873000	0.98535	0.563000	0.77884	CCA		TCGA-IB-7651-01A-11D-2154-08	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	1	0	1	55	250	0	58	1	7.476110e-01	4	10	0	58	2		0	0	0	0	0	2	1	1	55	244	0	58	2								-20.000000	1	1	121408	2	32	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM19	55266	broad.mit.edu	37	12	72080331	72080331	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72080331C>A	ENST00000266673.5	+	0	465				RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_De_novo_Start_InFrame	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19			9		Breast(359;0.0889)			GATTTTTATGCTTGTTTGGTC	0.438000																								0											ENST00000266673.5	0	1	hg19	CCDS9002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	0	0	0	7	33	0	12	1	9.976815e-01	10	53	0	12	2		0	0	0	0	0	2	1	9.840074e-01	7	33	0	12	2								-17.928480	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.860000	1.000000	1.000000	0.992107	0.990000	1	9.900000e-01	1
TMEM19	55266	broad.mit.edu	37	12	72083392	72083392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72083392C>T	ENST00000266673.5	+	2	746	c.152C>T	c.(151-153)cCg>cTg	p.P51L	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19			9		Breast(359;0.0889)			CCTATTTCTCCGTGGCGTTGG	0.413000																								0							SO:0001583	missense			ENST00000266673.5	1	1	hg19	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167020	0.94768	0.0	1.16E-4	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.966	T	0.78259	-0.2273	9	0.38643	T	0.18	-18.4485	19.0554	0.93062	0.0:1.0:0.0:0.0	.	51;51	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	L	51	.	ENSP00000266673:P51L	P	+	2	0	TMEM19	70369659	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	6.813000	0.75231	2.496000	0.84212	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	0	0	1	93	437	1	108	1	9.998513e-01	26	82	1	108	6		0	0	0	0	0	2	1	1	92	430	1	107	17								-2.958249	1	1	121412	12	42	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D15	64786	broad.mit.edu	37	12	72300817	72300817	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72300817G>A	ENST00000550746.1	+	12	1314	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15			24					GATGTTAACAGAACAGATCGA	0.318000																								0							SO:0001583	missense			ENST00000550746.1	1	1	hg19	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263479	0.95399	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.19	5.19	0.71726	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.98466	4.24	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.80764	0.994;0.99;0.992	D	0.85054	0.0930	10	0.87932	D	0	-16.0406	18.7218	0.91698	0.0:0.0:1.0:0.0	.	408;400;417	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	417;408;400;171	ENSP00000448182:R417K;ENSP00000318262:R408K;ENSP00000420678:R400K;ENSP00000376986:R171K	ENSP00000318262:R408K	R	+	2	0	TBC1D15	70587084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.416000	0.81992	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	1	0	1	22	92	0	23	1	1	79	214	0	23	2		0	0	0	0	0	2	1	9.999994e-01	22	91	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
TPH2	121278	broad.mit.edu	37	12	72416266	72416266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72416266G>T	ENST00000333850.3	+	9	1297	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2			41				L-Tryptophan(DB00150)	CTCCATTGGAGAATTAAAGGT	0.428000																								0							SO:0001587	stop_gained			ENST00000333850.3	0	1	hg19	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	39	7.518037	0.98332	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.98	5.98	0.97165	.	0.048507	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5335	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	ENSP00000329093:E386X	E	+	1	0	TPH2	70702533	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	1	0	1	52	237	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	51	231	0	51	2								-3.421819	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPH2	121278	broad.mit.edu	37	12	72425041	72425041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72425041G>A	ENST00000333850.3	+	10	1309	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2			41				L-Tryptophan(DB00150)	TTTGCAGCACGCCCTTTCTGA	0.423000																								0							SO:0001583	missense			ENST00000333850.3	1	1	hg19	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953843	0.92660	.	.	ENSG00000139287	ENST00000333850	D	0.99758	-6.65	5.56	5.56	0.83823	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.93106	3.38	0.80722	D	1	D	0.53151	0.958	P	0.48627	0.584	D	0.98415	1.0574	10	0.72032	D	0.01	-17.6951	19.8892	0.96923	0.0:0.0:1.0:0.0	.	390	Q8IWU9	TPH2_HUMAN	T	390	ENSP00000329093:A390T	ENSP00000329093:A390T	A	+	1	0	TPH2	70711308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.929000	0.87595	2.777000	0.95525	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	1	0	1	80	396	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	78	392	0	82	2								-3.036332	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1RL	51279	broad.mit.edu	37	12	7249062	7249062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7249062G>A	ENST00000266542.4	-	6	1481	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like			16					CATACCCTTCGCCACACCCTA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000266542.4	1	1	hg19	CCDS8573.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	1	0	1	61	430	0	95	1	1	13	172	0	95	2		0	0	0	0	0	2	1	1	60	414	0	94	2								-3.142705	1	1	121412	4	39	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999826	0.990000	1	9.900000e-01	1
TRHDE	29953	broad.mit.edu	37	12	72667284	72667284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72667284G>T	ENST00000261180.4	+	1	822	c.726G>T	c.(724-726)gaG>gaT	p.E242D	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme			79					CGCTCATCGAGAATGAGCTCC	0.602000																								0							SO:0001583	missense			ENST00000261180.4	1	1	hg19	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.57|11.57	1.677174|1.677174	0.29783|0.29783	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.04083|.	3.71|.	5.23|5.23	3.32|3.32	0.38043|0.38043	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.41373|.	0.1156|.	N|N	0.16037|0.16037	0.36|0.36	0.42043|0.42043	D|D	0.991086|0.991086	D|.	0.59357|.	0.985|.	P|.	0.54590|.	0.756|.	T|.	0.36335|.	-0.9752|.	10|.	0.27082|0.52906	T|T	0.32|0.07	.|.	10.4009|10.4009	0.44229|0.44229	0.1363:0.0:0.8637:0.0|0.1363:0.0:0.8637:0.0	.|.	242|.	Q9UKU6|.	TRHDE_HUMAN|.	D|X	242|8	ENSP00000261180:E242D|.	ENSP00000261180:E242D|ENSP00000447822:E8X	E|E	+|+	3|1	2|0	TRHDE|TRHDE	70953551|70953551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.157000|0.157000	0.22087|0.22087	3.867000|3.867000	0.56047|0.56047	0.526000|0.526000	0.28541|0.28541	0.609000|0.609000	0.83330|0.83330	GAG|GAA		TCGA-IB-7651-01A-11D-2154-08	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	0	0	0	18	526	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	9.999795e-01	18	517	0	85	2								-3.687684	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.400000	0.240000	1.000000	0.390000	0.446675	0.400000	0	3.100000e-01	5.300000e-01
TRHDE	29953	broad.mit.edu	37	12	72771827	72771827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72771827C>A	ENST00000261180.4	+	3	1202	c.1106C>A	c.(1105-1107)gCt>gAt	p.A369D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme			79					GGGGACTATGCTCTCCATATA	0.318000																								0							SO:0001583	missense			ENST00000261180.4	1	1	hg19	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423237	0.83559	.	.	ENSG00000072657	ENST00000261180	T	0.03553	3.89	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.44651	-0.9314	10	0.87932	D	0	.	19.5437	0.95283	0.0:1.0:0.0:0.0	.	369	Q9UKU6	TRHDE_HUMAN	D	369	ENSP00000261180:A369D	ENSP00000261180:A369D	A	+	2	0	TRHDE	71058094	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.303000	0.78871	2.645000	0.89757	0.585000	0.79938	GCT		TCGA-IB-7651-01A-11D-2154-08	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	1	0	0	63	309	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	63	307	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLSTN3	9746	broad.mit.edu	37	12	7288002	7288002	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7288002A>T	ENST00000266546.6	+	4	913	c.463A>T	c.(463-465)Aca>Tca	p.T155S	CLSTN3_ENST00000537408.1_Missense_Mutation_p.T167S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3			33					TGCGGCTGTGACAGAGGGGAA	0.567000																								0							SO:0001583	missense			ENST00000266546.6	1	1	hg19	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724125	0.48728	.	.	ENSG00000139182	ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T	0.59083	0.29;0.29;0.91;1.27;1.27;0.29	5.01	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.050981	0.85682	D	0.000000	T	0.46678	0.1405	L	0.36672	1.1	0.40695	D	0.982434	B;P	0.38250	0.033;0.624	B;B	0.39465	0.015;0.3	T	0.36915	-0.9728	9	.	.	.	-19.1582	10.4463	0.44497	0.9235:0.0:0.0765:0.0	.	167;155	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	S	155;118;118;118;138;167	ENSP00000266546:T155S;ENSP00000442612:T118S;ENSP00000443468:T118S;ENSP00000443490:T118S;ENSP00000442801:T138S;ENSP00000440679:T167S	.	T	+	1	0	CLSTN3	7179269	1.000000	0.71417	0.916000	0.36221	0.607000	0.37147	3.918000	0.56432	0.947000	0.37659	0.374000	0.22700	ACA		TCGA-IB-7651-01A-11D-2154-08	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	1	0	1	52	334	0	71	1	9.999880e-01	20	89	0	71	2		0	0	0	0	0	2	1	1	48	323	0	70	2								-19.998500	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
CLSTN3	9746	broad.mit.edu	37	12	7310163	7310163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7310163G>A	ENST00000266546.6	+	17	3056	c.2606G>A	c.(2605-2607)cGc>cAc	p.R869H	CLSTN3_ENST00000537408.1_Missense_Mutation_p.R881H|CLSTN3_ENST00000331148.5_3'UTR	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3			33					GGCCTGGTGCGCATCCATTCC	0.662000																								0							SO:0001583	missense			ENST00000266546.6	1	1	hg19	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685658	0.88639	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.39056	1.1;1.1	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.71563	-0.4555	10	0.87932	D	0	-28.1793	18.2262	0.89917	0.0:0.0:1.0:0.0	.	211;881;869	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	H	869;881	ENSP00000266546:R869H;ENSP00000440679:R881H	ENSP00000266546:R869H	R	+	2	0	CLSTN3	7201430	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	9.593000	0.98250	2.619000	0.88677	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	1	0	1	23	129	0	25	1	9.999995e-01	16	129	0	25	2		0	0	0	0	0	2	1	9.999995e-01	22	126	0	25	2								-3.175217	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.998909	0.990000	1	9.900000e-01	1
PEX5	5830	broad.mit.edu	37	12	7361053	7361053	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7361053G>T	ENST00000455147.2	+	14	1762	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	PEX5_ENST00000434354.2_Splice_Site_p.R409S|PEX5_ENST00000266564.3_Splice_Site_p.R386S|PEX5_ENST00000420616.2_Splice_Site_p.R394S|PEX5_ENST00000266563.5_Splice_Site_p.R357S|PEX5_ENST00000412720.2_Splice_Site_p.R415S	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5			21					GATCAAACAGGTGTCTGGAGC	0.537000																								0							SO:0001630	splice_region_variant			ENST00000455147.2	1	0	hg19	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078261	0.55753	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.31	3.46	0.39613	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.048768	0.85682	D	0.000000	T	0.71626	0.3362	M	0.88979	2.995	0.58432	D	0.999998	P;B;P;B;D	0.67145	0.739;0.341;0.914;0.389;0.996	B;B;P;B;P	0.54140	0.299;0.163;0.729;0.193;0.743	T	0.77319	-0.2632	9	.	.	.	.	11.6969	0.51548	0.1455:0.0:0.8545:0.0	.	415;409;394;386;357	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	S	394;357;409;394;415;364;386	ENSP00000400647:R394S;ENSP00000266563:R357S;ENSP00000407401:R409S;ENSP00000410159:R394S;ENSP00000391601:R415S;ENSP00000379877:R364S;ENSP00000266564:R386S	.	R	+	3	2	PEX5	7252320	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.295000	0.51794	1.233000	0.43693	0.591000	0.81541	AGG		TCGA-IB-7651-01A-11D-2154-08	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	1	0	0	28	130	0	28	1	9.999077e-01	11	61	0	28	2		0	0	0	0	0	2	1	1	28	129	0	28	2								-20.000000	1	1	121412	7	38	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999900	0.990000	1	9.900000e-01	1
ACSM4	341392	broad.mit.edu	37	12	7459295	7459295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7459295G>T	ENST00000399422.4	+	2	416	c.368G>T	c.(367-369)aGa>aTa	p.R123I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4			21					ATTCTGCCCAGAATCCCTGAG	0.512000																								0							SO:0001583	missense			ENST00000399422.4	1	1	hg19	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.032603	0.75504	.	.	ENSG00000215009	ENST00000399422	T	0.12465	2.68	4.89	4.0	0.46444	AMP-dependent synthetase/ligase (1);	0.000000	0.36200	U	0.002740	T	0.41650	0.1168	M	0.90145	3.09	0.53005	D	0.999965	D	0.63880	0.993	D	0.63703	0.917	T	0.53606	-0.8415	10	0.87932	D	0	-12.2778	13.4508	0.61169	0.0:0.159:0.841:0.0	.	123	P0C7M7	ACSM4_HUMAN	I	123	ENSP00000382349:R123I	ENSP00000382349:R123I	R	+	2	0	ACSM4	7350562	0.947000	0.32204	0.931000	0.37212	0.884000	0.51177	5.178000	0.65037	1.216000	0.43427	-0.121000	0.15023	AGA		TCGA-IB-7651-01A-11D-2154-08	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	1	0	1	20	79	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999968e-01	20	75	0	16	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999709	0.990000	1	9.900000e-01	1
CD163L1	283316	broad.mit.edu	37	12	7531717	7531717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531717G>A	ENST00000313599.3	-	9	2285	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L|CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1			96					TGTGAAATGAGGCTCTCTGGA	0.483000																								0							SO:0001583	missense			ENST00000313599.3	1	1	hg19	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060813	0.19987	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.69	-5.38	0.02673	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.187460	0.03114	U	0.162876	T	0.25382	0.0617	N	0.26042	0.785	0.09310	N	1	B;B	0.26635	0.155;0.155	B;B	0.31495	0.131;0.131	T	0.27536	-1.0071	10	0.51188	T	0.08	.	5.5718	0.17200	0.4564:0.1455:0.3982:0.0	.	753;743	E7EVK4;Q9NR16	.;C163B_HUMAN	L	743;753;743	ENSP00000315945:P743L;ENSP00000393474:P753L;ENSP00000379871:P743L	ENSP00000315945:P743L	P	-	2	0	CD163L1	7422984	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.428000	0.06991	-1.435000	0.01972	0.455000	0.32223	CCT		TCGA-IB-7651-01A-11D-2154-08	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	1	0	1	100	394	0	102	0	2.705486e-01	0	5	0	102	2		0	0	0	0	0	2	1	1	98	389	0	101	2								-20.000000	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNC2	3747	broad.mit.edu	37	12	75444592	75444592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444592G>A	ENST00000549446.1	-	3	1873	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2			54				Dalfampridine(DB06637)	GTAGATCATGGTAGCAAATAT	0.448000																								0							SO:0001583	missense			ENST00000549446.1	1	1	hg19	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258306	0.80246	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	6.06	6.06	0.98353	Ion transport (1);	0.079838	0.53938	D	0.000052	D	0.98673	0.9555	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.993	D;D;D;D;D	0.97110	0.998;1.0;0.99;1.0;0.947	D	0.99846	1.1066	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	398;398;398;398;398	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	I	398	ENSP00000448301:T398I;ENSP00000449941:T398I;ENSP00000449253:T398I;ENSP00000340121:T398I;ENSP00000298972:T398I;ENSP00000319877:T398I;ENSP00000438423:T398I;ENSP00000376966:T398I	ENSP00000298972:T398I	T	-	2	0	KCNC2	73730859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	1	0	1	51	225	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	51	221	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNC2	3747	broad.mit.edu	37	12	75444616	75444616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444616G>T	ENST00000549446.1	-	3	1849	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D	KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2			54				Dalfampridine(DB06637)	AACTCCTAGAGCCAGGAAAAT	0.438000																								0							SO:0001583	missense			ENST00000549446.1	1	1	hg19	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480886	0.84747	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99214	0.9727	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.958	D;D;D;D;P	0.87578	0.994;0.998;0.979;0.996;0.759	D	0.99308	1.0903	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	390;390;390;390;390	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	D	390	ENSP00000448301:A390D;ENSP00000449941:A390D;ENSP00000449253:A390D;ENSP00000340121:A390D;ENSP00000298972:A390D;ENSP00000319877:A390D;ENSP00000438423:A390D;ENSP00000376966:A390D	ENSP00000298972:A390D	A	-	2	0	KCNC2	73730883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.880000	0.98712	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	1	0	1	53	209	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	53	205	0	59	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNC2	3747	broad.mit.edu	37	12	75444879	75444879	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444879A>C	ENST00000549446.1	-	3	1586	c.906T>G	c.(904-906)gtT>gtG	p.V302V	KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V|KCNC2_ENST00000393288.2_Silent_p.V302V|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000550433.1_Silent_p.V302V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2			54				Dalfampridine(DB06637)	TGGGTGAAAAAACAATACGGA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000549446.1	1	1	hg19	CCDS9007.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	0	0	0	15	524	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	9.998526e-01	15	513	0	98	2								-13.587010	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.340000	0.190000	1.000000	0.330000	0.389255	0.340000	0	2.600000e-01	4.600000e-01
CD163L1	283316	broad.mit.edu	37	12	7559140	7559140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559140C>T	ENST00000313599.3	-	5	1132	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M|CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1			96					GAGCAGATCACAGACACATCG	0.403000																								0							SO:0001583	missense			ENST00000313599.3	1	1	hg19	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345579	0.61073	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.56776	0.44;0.44;0.44	1.88	1.88	0.25563	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.73187	0.3555	M	0.89414	3.03	0.27534	N	0.950993	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.62478	-0.6846	9	0.87932	D	0	.	9.7292	0.40350	0.0:1.0:0.0:0.0	.	369;359	E7EVK4;Q9NR16	.;C163B_HUMAN	M	359;369;359	ENSP00000315945:V359M;ENSP00000393474:V369M;ENSP00000379871:V359M	ENSP00000315945:V359M	V	-	1	0	CD163L1	7450407	0.905000	0.30787	0.082000	0.20525	0.798000	0.45092	1.981000	0.40628	1.333000	0.45449	0.455000	0.32223	GTG		TCGA-IB-7651-01A-11D-2154-08	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	1	0	1	47	230	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	46	225	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1			96					TGCTTGCATACGACATCAGCT	0.522000																								0							SO:0001583	missense			ENST00000313599.3	1	1	hg19	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446472	0.43429	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.39229	1.09;1.09;1.09	1.75	-1.23	0.09465	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.28001	0.0690	L	0.45581	1.43	0.09310	N	0.99999	P;P	0.40578	0.722;0.722	B;B	0.34038	0.174;0.174	T	0.10497	-1.0627	9	0.39692	T	0.17	.	5.8213	0.18528	0.0:0.5279:0.0:0.4721	.	309;299	E7EVK4;Q9NR16	.;C163B_HUMAN	I	299;309;299	ENSP00000315945:V299I;ENSP00000393474:V309I;ENSP00000379871:V299I	ENSP00000315945:V299I	V	-	1	0	CD163L1	7450587	0.001000	0.12720	0.000000	0.03702	0.356000	0.29392	0.350000	0.20079	-0.408000	0.07565	0.305000	0.20034	GTA		TCGA-IB-7651-01A-11D-2154-08	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	1	0	1	71	406	0	105	0	1.661266e-01	0	5	0	105	2		0	0	0	0	0	2	1	1	70	396	0	104	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CAPS2	84698	broad.mit.edu	37	12	75692696	75692696	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75692696T>C	ENST00000409445.3	-	11	1158	c.962A>G	c.(961-963)gAc>gGc	p.D321G	CAPS2_ENST00000393284.3_Missense_Mutation_p.D89G|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2			10					AAGGGATTGGTCATGAGTGAA	0.343000																								0							SO:0001583	missense			ENST00000409445.3	1	1	hg19	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881570	0.72294	.	.	ENSG00000180881	ENST00000409445;ENST00000393284	T;T	0.51574	0.7;1.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68621	0.959;0.827	T	0.74386	-0.3682	10	0.66056	D	0.02	-11.7444	15.8224	0.78667	0.0:0.0:0.0:1.0	.	89;321	Q9BXY5-2;Q9BXY5	.;CAYP2_HUMAN	G	321;89	ENSP00000386959:D321G;ENSP00000376963:D89G	ENSP00000376963:D89G	D	-	2	0	CAPS2	73978963	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	6.064000	0.71169	2.149000	0.67028	0.519000	0.50382	GAC		TCGA-IB-7651-01A-11D-2154-08	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2	1	0	1	44	195	0	36	0	3.857707e-01	1	6	0	36	2		0	0	0	0	0	2	1	1	43	191	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLIPR1L1	256710	broad.mit.edu	37	12	75763911	75763911	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75763911C>T	ENST00000378695.4	+	6	774	c.684C>T	c.(682-684)gcC>gcT	p.A228A	GLIPR1L1_ENST00000312442.2_Silent_p.A219A|GLIPR1L1_ENST00000548623.1_3'UTR|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1			10					AGCAGACAGCCTTTAATCCAT	0.313000																								0							SO:0001819	synonymous_variant			ENST00000378695.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	1	0	1	47	224	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	45	221	0	49	2								-3.211939	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLIPR1	11010	broad.mit.edu	37	12	75875790	75875790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75875790G>A	ENST00000266659.3	+	2	552	c.351G>A	c.(349-351)tgG>tgA	p.W117*	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1			14					TCACAAACTGGTATGACGAAA	0.468000																								0							SO:0001587	stop_gained			ENST00000266659.3	0	1	hg19	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530799	0.64860	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2657	0.90051	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000266659:W117X	W	+	3	0	GLIPR1	74162057	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	7.752000	0.85141	2.756000	0.94617	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	1	0	1	95	437	0	84	0	1	0	198	0	84	2		0	0	0	0	0	2	1	1	92	431	0	84	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD163	9332	broad.mit.edu	37	12	7639264	7639264	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7639264T>A	ENST00000359156.4	-	10	2491	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	CD163_ENST00000541972.1_Silent_p.G751G|CD163_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Silent_p.G763G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule			76				WF10(DB05389)	TAATGGCCTCTCCACAGCCCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000359156.4	1	1	hg19	CCDS8578.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	1	0	1	130	842	0	202	0	1	1	493	0	202	2		0	0	0	0	0	2	1	1	129	823	1	201	17								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD163	9332	broad.mit.edu	37	12	7640253	7640253	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7640253G>A	ENST00000359156.4	-	8	1954	c.1752C>T	c.(1750-1752)cgC>cgT	p.R584R	CD163_ENST00000541972.1_Silent_p.R572R|CD163_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Silent_p.R584R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule			76				WF10(DB05389)	CATTCACCAAGCGAATTTCTG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000359156.4	1	1	hg19	CCDS8578.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	0	0	0	13	460	0	93	0	9.995050e-01	0	467	0	93	2		0	0	0	0	0	2	1	9.994980e-01	13	453	0	90	2								-11.931950	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.310000	0.170000	0.500000	0.310000	0.330651	0.310000	0	2.300000e-01	4.100000e-01
NAP1L1	4673	broad.mit.edu	37	12	76442238	76442238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76442238G>A	ENST00000261182.8	-	15	1633	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*|NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1			9		Colorectal(145;0.09)			GCTGGGTTTTGATCCTTCTGT	0.388000																								0							SO:0001587	stop_gained			ENST00000261182.8	0	1	hg19	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.613130	0.97705	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344	.	.	.	5.75	5.75	0.90469	.	0.602068	0.18452	N	0.140818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	383;377;383;315;320;200;341	.	ENSP00000261182:Q383X	Q	-	1	0	NAP1L1	74728505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.480000	0.73604	2.717000	0.92951	0.585000	0.79938	CAA		TCGA-IB-7651-01A-11D-2154-08	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	1	0	0	106	415	0	79	1	1	55	1072	0	79	2		0	0	0	0	0	2	1	1	105	408	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BBS10	79738	broad.mit.edu	37	12	76740146	76740146	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740146A>G	ENST00000393262.3	-	2	1702	c.1619T>C	c.(1618-1620)tTa>tCa	p.L540S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10			19					GTTCTTGAGTAATGGTTCATA	0.363000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000393262.3	1	1	hg19	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.062276	0.00386	.	.	ENSG00000179941	ENST00000393262	D	0.85861	-2.04	4.69	0.647	0.17796	.	1.854630	0.02745	N	0.116791	T	0.72534	0.3472	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.54833	-0.8234	10	0.21540	T	0.41	0.4892	2.1329	0.03754	0.4868:0.2422:0.0772:0.1938	.	540	Q8TAM1	BBS10_HUMAN	S	540	ENSP00000376946:L540S	ENSP00000376946:L540S	L	-	2	0	BBS10	75264277	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.150000	0.16263	0.023000	0.15187	0.533000	0.62120	TTA		TCGA-IB-7651-01A-11D-2154-08	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	1	0	1	98	399	0	86	1	9.997100e-01	12	39	0	86	2		0	0	0	0	0	2	1	1	97	394	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BBS10	79738	broad.mit.edu	37	12	76740403	76740403	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740403A>C	ENST00000393262.3	-	2	1445	c.1362T>G	c.(1360-1362)agT>agG	p.S454R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10			19					GTGCTTGATAACTTTCTCCAC	0.348000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000393262.3	1	1	hg19	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	1.011	-0.688023	0.03328	.	.	ENSG00000179941	ENST00000393262	D	0.85955	-2.05	4.68	2.25	0.28309	.	0.440664	0.21561	N	0.072570	T	0.78585	0.4306	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.67074	-0.5762	10	0.46703	T	0.11	-1.8535	7.4204	0.27069	0.8247:0.0:0.1753:0.0	.	454	Q8TAM1	BBS10_HUMAN	R	454	ENSP00000376946:S454R	ENSP00000376946:S454R	S	-	3	2	BBS10	75264534	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.316000	0.19469	0.373000	0.24621	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	1	0	1	92	422	0	98	1	9.956246e-01	6	34	0	98	2		0	0	0	0	0	2	1	1	92	409	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BBS10	79738	broad.mit.edu	37	12	76742101	76742101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76742101G>A	ENST00000393262.3	-	1	121	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10			19					CTGCAACGCCGCCTTCACAGA	0.612000									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000393262.3	0	1	hg19	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206551	0.39003	.	.	ENSG00000179941	ENST00000393262	D	0.90004	-2.6	5.23	-2.25	0.06888	.	0.695765	0.11678	U	0.540041	T	0.72700	0.3493	N	0.12746	0.255	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.57516	-0.7798	10	0.24483	T	0.36	0.1479	4.4878	0.11799	0.4616:0.0:0.2864:0.252	.	13	Q8TAM1	BBS10_HUMAN	V	13	ENSP00000376946:A13V	ENSP00000376946:A13V	A	-	2	0	BBS10	75266232	0.000000	0.05858	0.059000	0.19551	0.658000	0.38924	-2.093000	0.01353	-0.365000	0.08076	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	1	0	1	18	69	0	17	1	9.874972e-01	2	29	0	17	2		0	0	0	0	0	2	1	9.999896e-01	18	67	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999951	0.990000	1	9.900000e-01	1
OSBPL8	114882	broad.mit.edu	37	12	76749729	76749729	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76749729G>T	ENST00000261183.3	-	24	3089	c.2610C>A	c.(2608-2610)gaC>gaA	p.D870E	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	p.D870E(1)		28					TGATGAAGTAGTCTTTTTGTT	0.328000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000261183.3	1	1	hg19	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578119	0.28180	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.29142	1.6;1.58;1.6	6.06	4.2	0.49525	.	2.308210	0.00932	N	0.002729	T	0.23492	0.0568	N	0.24115	0.695	0.37192	D	0.903997	B	0.06786	0.001	B	0.06405	0.002	T	0.40720	-0.9548	10	0.02654	T	1	-8.2239	11.7761	0.51987	0.064:0.0:0.8122:0.1238	.	870	Q9BZF1	OSBL8_HUMAN	E	828;870;855;828	ENSP00000376939:D828E;ENSP00000261183:D870E;ENSP00000376940:D828E	ENSP00000261183:D870E	D	-	3	2	OSBPL8	75273860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.489000	0.53237	0.856000	0.35383	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	1	0	1	35	198	0	46	1	1	37	177	0	46	2		0	0	0	0	0	2	1	1	34	194	0	46	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
OSBPL8	114882	broad.mit.edu	37	12	76784265	76784265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76784265G>A	ENST00000261183.3	-	11	1581	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8			28					ACAGGCTCAGGTTCGATATAT	0.393000																								0							SO:0001583	missense			ENST00000261183.3	1	1	hg19	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306712	0.23736	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.41758	1.55;1.54;1.55;0.99;1.0	5.48	4.59	0.56863	.	0.181563	0.49305	D	0.000143	T	0.24470	0.0593	N	0.08118	0	0.49582	D	0.999806	B;B	0.22851	0.009;0.076	B;B	0.13407	0.009;0.008	T	0.03231	-1.1058	10	0.25106	T	0.35	-15.2772	15.7765	0.78224	0.0:0.0:0.8627:0.1373	.	343;368	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	S	326;368;353;326;368;368;343	ENSP00000376939:P326S;ENSP00000261183:P368S;ENSP00000376940:P326S;ENSP00000450238:P368S;ENSP00000447893:P343S	ENSP00000261183:P368S	P	-	1	0	OSBPL8	75308396	1.000000	0.71417	0.979000	0.43373	0.615000	0.37417	2.702000	0.47102	1.309000	0.44985	-0.158000	0.13435	CCT		TCGA-IB-7651-01A-11D-2154-08	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	1	0	1	109	438	0	138	1	1	29	150	0	138	2		0	0	0	0	0	2	1	1	102	428	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZDHHC17	23390	broad.mit.edu	37	12	77208931	77208931	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77208931A>G	ENST00000426126.2	+	6	1198	c.549A>G	c.(547-549)gtA>gtG	p.V183V	ZDHHC17_ENST00000359019.4_Silent_p.V133V|ZDHHC17_ENST00000334822.5_Silent_p.V183V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17			23					ATCAGGATGTAGATATGATGG	0.308000																								0							SO:0001819	synonymous_variant			ENST00000426126.2	0	1	hg19	CCDS44946.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	0	0	0	3	34	0	8	1	8.625708e-01	2	42	0	8	2		0	0	0	0	0	2	1	8.126761e-01	3	34	0	8	2								-8.147993	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.310000	1.000000	1.000000	0.849331	0.990000	1	5.900000e-01	1
ZDHHC17	23390	broad.mit.edu	37	12	77239492	77239492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239492C>T	ENST00000426126.2	+	13	1982	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17			23					TTAACAGATACGAAAACCGGT	0.338000																								0							SO:0001587	stop_gained			ENST00000426126.2	0	1	hg19	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	45	11.485754	0.99567	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	.	.	.	5.48	5.48	0.80851	.	0.067675	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0498	14.5436	0.68013	0.1464:0.8536:0.0:0.0	.	.	.	.	X	445	.	ENSP00000334868:R445X	R	+	1	2	ZDHHC17	75763623	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.723000	0.93209	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	0	0	0	26	411	1	84	0	2.752699e-01	2	41	1	84	4		0	0	0	0	0	2	1	9.999999e-01	26	403	0	83	2								-5.952173	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.710000	0.470000	1.000000	0.690000	0.737039	0.710000	0	5.800000e-01	9.000000e-01
ZDHHC17	23390	broad.mit.edu	37	12	77239525	77239525	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239525T>C	ENST00000426126.2	+	13	2015	c.1366T>C	c.(1366-1368)Tgc>Cgc	p.C456R	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17			23					TTGTGGTGTGTGCAACCGCTG	0.363000																								0							SO:0001583	missense			ENST00000426126.2	1	1	hg19	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796274	0.90453	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.62364	0.03;0.03	5.48	5.48	0.80851	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.085644	0.85682	D	0.000000	D	0.84524	0.5491	H	0.97131	3.945	0.80722	D	1	P	0.50943	0.94	P	0.59761	0.863	D	0.89798	0.3973	10	0.87932	D	0	-9.4291	15.861	0.79021	0.0:0.0:0.0:1.0	.	456	Q8IUH5	ZDH17_HUMAN	R	456	ENSP00000403397:C456R;ENSP00000334868:C456R	ENSP00000334868:C456R	C	+	1	0	ZDHHC17	75763656	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.860000	0.86993	2.198000	0.70561	0.528000	0.53228	TGC		TCGA-IB-7651-01A-11D-2154-08	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	1	0	1	79	428	0	102	1	9.963600e-01	6	42	0	102	2		0	0	0	0	0	2	1	1	78	419	0	100	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
E2F7	144455	broad.mit.edu	37	12	77423632	77423632	+	Silent	SNP	C	C	T	rs140294649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77423632C>T	ENST00000322886.7	-	10	2098	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	E2F7_ENST00000416496.2_Silent_p.P621P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7			42					CAAGCGACAGCGGGCCGTCTT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000322886.7	1	1	hg19	CCDS9016.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	1	0	1	66	305	0	78	1	7.744320e-01	5	10	0	78	2		0	0	0	0	0	2	1	1	64	297	0	76	2								-20.000000	1	1	121412	12	42	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
E2F7	144455	broad.mit.edu	37	12	77438548	77438548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77438548G>A	ENST00000322886.7	-	6	1092	c.857C>T	c.(856-858)tCt>tTt	p.S286F	E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7			42					AATTCTCAGAGACTTGTCTTT	0.393000																								0							SO:0001583	missense			ENST00000322886.7	1	1	hg19	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.077982|5.077982	0.94000|0.94000	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000551058|ENST00000322886;ENST00000416496;ENST00000550669	.|T;T;T	.|0.41400	.|1.2;1.0;1.01	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77054|0.77054	0.4074|0.4074	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.82579|0.82579	-0.0387|-0.0387	5|10	.|0.87932	.|D	.|0	-18.3452|-18.3452	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|286	.|Q96AV8	.|E2F7_HUMAN	F|F	164|286	.|ENSP00000323246:S286F;ENSP00000393639:S286F;ENSP00000448245:S286F	.|ENSP00000323246:S286F	L|S	-|-	1|2	0|0	E2F7|E2F7	75962679|75962679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT		TCGA-IB-7651-01A-11D-2154-08	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	1	0	1	80	365	0	68	1	6.161846e-01	6	5	0	68	2		0	0	0	0	0	2	1	1	79	356	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV3	89795	broad.mit.edu	37	12	78400927	78400927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78400927G>A	ENST00000397909.2	+	8	1782	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	NAV3_ENST00000536525.2_Missense_Mutation_p.V537I|NAV3_ENST00000228327.6_Missense_Mutation_p.V537I|NAV3_ENST00000266692.7_Missense_Mutation_p.V537I			Q8IVL0	NAV3_HUMAN	neuron navigator 3			236					AGTTCCAACAGTAAAGCAAAC	0.463000										HNSCC(70;0.22)														0							SO:0001583	missense			ENST00000397909.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.345	0.431745	0.12045	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.29	3.38	0.38709	.	0.185424	0.25341	U	0.031368	T	0.09686	0.0238	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.14805	0.011;0.0	B;B	0.12156	0.007;0.0	T	0.20806	-1.0264	10	0.40728	T	0.16	-2.8455	15.5497	0.76141	0.0:0.406:0.594:0.0	.	537;537	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	537	ENSP00000446628:V537I;ENSP00000446132:V537I;ENSP00000381007:V537I;ENSP00000228327:V537I;ENSP00000266692:V537I	ENSP00000228327:V537I	V	+	1	0	NAV3	76925058	0.753000	0.28349	0.097000	0.21041	0.126000	0.20510	3.321000	0.51999	0.555000	0.29079	0.650000	0.86243	GTA		TCGA-IB-7651-01A-11D-2154-08	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1	44	237	0	52	0	3.706618e-01	1	7	0	52	2		0	0	0	0	0	2	1	1	43	232	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
NAV3	89795	broad.mit.edu	37	12	78510602	78510602	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78510602A>C	ENST00000397909.2	+	13	2860	c.2687A>C	c.(2686-2688)aAc>aCc	p.N896T	NAV3_ENST00000536525.2_Missense_Mutation_p.N896T|NAV3_ENST00000228327.6_Missense_Mutation_p.N896T|NAV3_ENST00000266692.7_Missense_Mutation_p.N896T			Q8IVL0	NAV3_HUMAN	neuron navigator 3			236					ACCCTTGATAACATCAGCACT	0.478000										HNSCC(70;0.22)														0							SO:0001583	missense			ENST00000397909.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	20.2	3.942704	0.73672	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.64618	0.89;0.93;0.9;-0.11	5.71	5.71	0.89125	.	0.000000	0.43260	U	0.000582	T	0.79112	0.4391	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.81914	0.98;0.992;0.995	T	0.81765	-0.0783	10	0.87932	D	0	-25.6081	15.9877	0.80174	1.0:0.0:0.0:0.0	.	896;896;896	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	896	ENSP00000446132:N896T;ENSP00000381007:N896T;ENSP00000228327:N896T;ENSP00000266692:N896T	ENSP00000228327:N896T	N	+	2	0	NAV3	77034733	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.300000	0.96151	2.165000	0.68154	0.455000	0.32223	AAC		TCGA-IB-7651-01A-11D-2154-08	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1	70	329	0	85	0	1.474726e-01	0	4	0	85	2		0	0	0	0	0	2	1	1	67	320	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV3	89795	broad.mit.edu	37	12	78531121	78531121	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531121T>C	ENST00000397909.2	+	19	4779	c.4606T>C	c.(4606-4608)Tca>Cca	p.S1536P	NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P			Q8IVL0	NAV3_HUMAN	neuron navigator 3			236					TCATTCGGGCTCATTCAGAGA	0.488000										HNSCC(70;0.22)														0							SO:0001583	missense			ENST00000397909.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.510893|4.510893	0.85389|0.85389	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.35605	.|1.3;1.31;1.37;1.38;2.16	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.34268	.|U	.|0.004102	T|T	0.60881|0.60881	0.2303|0.2303	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.997;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.991;0.991;0.997;0.997	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.72032	.|D	.|0.01	-10.6286|-10.6286	16.2736|16.2736	0.82632|0.82632	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1536;1359;1536;1536	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	P|P	430|1536;1536;1536;1359;157;165	.|ENSP00000446132:S1536P;ENSP00000381007:S1536P;ENSP00000228327:S1536P;ENSP00000266692:S1359P;ENSP00000448303:S165P	.|ENSP00000228327:S1536P	L|S	+|+	2|1	0|0	NAV3|NAV3	77055252|77055252	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.737000|0.737000	0.42083|0.42083	7.719000|7.719000	0.84751|0.84751	2.247000|2.247000	0.74100|0.74100	0.477000|0.477000	0.44152|0.44152	CTC|TCA		TCGA-IB-7651-01A-11D-2154-08	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	0	0	0	12	401	0	83	0	2.556285e-02	0	8	0	83	2		0	0	0	0	0	2	1	9.990780e-01	12	396	0	82	2								-11.678360	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.360000	0.190000	1.000000	0.330000	0.407567	0.360000	0	2.600000e-01	5.000000e-01
NAV3	89795	broad.mit.edu	37	12	78571064	78571064	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78571064A>G	ENST00000397909.2	+	27	5441	c.5268A>G	c.(5266-5268)gcA>gcG	p.A1756A	NAV3_ENST00000536525.2_Silent_p.A1756A|NAV3_ENST00000228327.6_Silent_p.A1756A|NAV3_ENST00000266692.7_Silent_p.A1579A			Q8IVL0	NAV3_HUMAN	neuron navigator 3			236					GTGGCTCAGCATCCATGAAGC	0.433000										HNSCC(70;0.22)														0							SO:0001819	synonymous_variant			ENST00000397909.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	0.023	-1.397454	0.01175	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.95	-4.39	0.03611	.	.	.	.	.	T	0.35364	0.0929	.	.	.	0.32552	N	0.532221	.	.	.	.	.	.	T	0.48115	-0.9063	4	.	.	.	0.4945	6.924	0.24403	0.4447:0.324:0.2312:0.0	.	.	.	.	V	651	.	.	I	+	1	0	NAV3	77095195	0.001000	0.12720	0.008000	0.14137	0.217000	0.24651	-0.203000	0.09438	-0.648000	0.05437	-1.063000	0.02288	ATC		TCGA-IB-7651-01A-11D-2154-08	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1	106	411	0	136	1	2.749228e-01	3	2	0	136	2		0	0	0	0	0	2	1	1	105	403	0	135	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV3	89795	broad.mit.edu	37	12	78583834	78583834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78583834C>A	ENST00000397909.2	+	34	6299	c.6126C>A	c.(6124-6126)taC>taA	p.Y2042*	NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3			236					CCCAAAGGTACTTTAACTTGT	0.358000										HNSCC(70;0.22)														0							SO:0001587	stop_gained			ENST00000397909.2	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.205461|13.205461	0.99727|0.99727	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|.	.|.	.|.	5.03|5.03	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.36703	.|U	.|0.002448	T|.	0.30885|.	0.0779|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12889|.	-1.0530|.	4|.	.|0.02654	.|T	.|1	-6.2545|-6.2545	10.4374|10.4374	0.44443|0.44443	0.0:0.8325:0.0:0.1675|0.0:0.8325:0.0:0.1675	.|.	.|.	.|.	.|.	I|X	915|2020;2042;2020;1843;634;642	.|.	.|ENSP00000228327:Y2020X	L|Y	+|+	1|3	0|2	NAV3|NAV3	77107965|77107965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.117000|2.117000	0.41939|0.41939	0.575000|0.575000	0.29434|0.29434	0.655000|0.655000	0.94253|0.94253	CTT|TAC		TCGA-IB-7651-01A-11D-2154-08	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	1	62	357	0	108	0	4.528881e-01	0	10	0	108	2		0	0	0	0	0	2	1	1	60	356	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV3	89795	broad.mit.edu	37	12	78604210	78604210	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78604210C>A	ENST00000397909.2	+	40	7244	c.7071C>A	c.(7069-7071)gcC>gcA	p.A2357A	NAV3_ENST00000536525.2_Silent_p.A2335A|NAV3_ENST00000228327.6_Silent_p.A2335A|NAV3_ENST00000266692.7_Silent_p.A2158A|NAV3_ENST00000541270.1_Silent_p.A187A			Q8IVL0	NAV3_HUMAN	neuron navigator 3			236					AAGAAGCAGCCAATTACTCGA	0.418000										HNSCC(70;0.22)														0							SO:0001819	synonymous_variant			ENST00000397909.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	8.286	0.816605	0.16607	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73678	-0.3907	4	.	.	.	-16.4759	19.0721	0.93143	0.0:1.0:0.0:0.0	.	.	.	.	K	1230;225	.	.	Q	+	1	0	NAV3	77128341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.021000	0.30040	2.520000	0.84964	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	1	0	0	11	262	0	56	0	9.733472e-02	0	12	0	56	2		0	0	0	0	0	2	1	9.982563e-01	11	257	0	56	2								-12.380900	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.500000	0.260000	1.000000	0.460000	0.539515	0.500000	0	3.600000e-01	7.000000e-01
SLC2A14	144195	broad.mit.edu	37	12	7982451	7982451	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7982451A>G	ENST00000543909.1	-	10	1252	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14			38					TCTCCAATGTACATGGGCACA	0.512000																								0							SO:0001583	missense			ENST00000543909.1	1	1	hg19	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	a	19.36	3.812660	0.70912	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782	T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.98005	4.125	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.92989	0.6413	10	0.87932	D	0	.	9.8101	0.40817	1.0:0.0:0.0:0.0	.	180;56;142;165	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	142;165;142;165;56;56;180;142;142	ENSP00000340450:Y142H;ENSP00000440480:Y165H;ENSP00000407287:Y142H;ENSP00000379834:Y165H;ENSP00000440492:Y56H;ENSP00000443903:Y56H;ENSP00000445929:Y180H;ENSP00000440043:Y142H;ENSP00000438312:Y142H	ENSP00000340450:Y142H	Y	-	1	0	SLC2A14	7873718	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.180000	0.89694	1.174000	0.42811	0.377000	0.23210	TAC		TCGA-IB-7651-01A-11D-2154-08	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	1	0	1	51	230	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	50	223	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC2A14	144195	broad.mit.edu	37	12	7985383	7985383	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7985383T>C	ENST00000543909.1	-	8	874	c.115A>G	c.(115-117)Aca>Gca	p.T39A	SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_5'UTR			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14			38					GTAGCAACTGTGATGGCAAAG	0.453000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000543909.1	1	1	hg19	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076820	0.20227	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383;ENST00000535587	T;T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	2.45	-4.91	0.03085	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.714646	0.13364	N	0.393459	T	0.42607	0.1210	N	0.05592	-0.015	0.09310	N	0.999999	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.11329	0.006;0.004;0.006	T	0.37009	-0.9724	10	0.11182	T	0.66	.	4.7116	0.12875	0.6321:0.1178:0.0:0.2501	.	54;16;39	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	A	16;39;16;39;54;16;16;16;39;39;16;16;16	ENSP00000340450:T16A;ENSP00000440480:T39A;ENSP00000407287:T16A;ENSP00000379834:T39A;ENSP00000445929:T54A;ENSP00000440043:T16A;ENSP00000438312:T16A;ENSP00000443217:T16A;ENSP00000440044:T39A;ENSP00000437653:T39A;ENSP00000442402:T16A;ENSP00000443076:T16A	ENSP00000340450:T16A	T	-	1	0	SLC2A14	7876650	0.000000	0.05858	0.003000	0.11579	0.894000	0.52154	-0.909000	0.04058	-1.551000	0.01706	-0.879000	0.02964	ACA		TCGA-IB-7651-01A-11D-2154-08	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	1	0	0	12	274	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	9.990132e-01	10	268	0	88	2								-4.167492	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.480000	0.260000	0.770000	0.470000	0.502002	0.480000	0	3.600000e-01	6.300000e-01
SLC2A3	6515	broad.mit.edu	37	12	8083913	8083913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083913C>T	ENST00000075120.7	-	4	678	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3			30					GGGCAGTAGGCGAGATCTCTC	0.517000													Colon(96;424 1461 14416 20933 23688)											0							SO:0001819	synonymous_variant			ENST00000075120.7	1	1	hg19	CCDS8586.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	1	0	1	57	308	0	93	0	9.999997e-01	0	122	0	93	2		0	0	0	0	0	2	1	1	55	301	0	96	2								-20.000000	1	0	121412	1	32	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MYF6	4618	broad.mit.edu	37	12	81102007	81102007	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81102007A>C	ENST00000228641.3	+	1	731	c.509A>C	c.(508-510)aAa>aCa	p.K170T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)			26					TACAGACCCAAACAAGAAAAT	0.562000																								0							SO:0001583	missense			ENST00000228641.3	1	1	hg19	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750526	0.31046	.	.	ENSG00000111046	ENST00000228641	D	0.96104	-3.91	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (1);	0.199532	0.51477	D	0.000089	D	0.93936	0.8059	M	0.62723	1.935	0.58432	D	0.999996	P	0.50272	0.933	B	0.43508	0.422	D	0.92617	0.6104	10	0.12766	T	0.61	-20.4436	16.0971	0.81132	1.0:0.0:0.0:0.0	.	170	P23409	MYF6_HUMAN	T	170	ENSP00000228641:K170T	ENSP00000228641:K170T	K	+	2	0	MYF6	79626138	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.761000	0.74945	2.279000	0.76181	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	1	0	1	65	281	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	63	276	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIN7A	8825	broad.mit.edu	37	12	81205351	81205351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81205351G>A	ENST00000552864.1	-	5	797	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)			15					TTTTCAAAGCGAGCCTCCATT	0.498000																								0							SO:0001583	missense			ENST00000552864.1	1	0	hg19	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332630	0.81801	.	.	ENSG00000111052	ENST00000552864	T	0.20881	2.04	5.28	4.39	0.52855	PDZ/DHR/GLGF (1);	0.050845	0.85682	D	0.000000	T	0.37404	0.1002	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.16394	-1.0404	10	0.87932	D	0	-9.3904	13.9247	0.63955	0.0733:0.0:0.9267:0.0	.	199	O14910	LIN7A_HUMAN	C	199	ENSP00000447488:R199C	ENSP00000447488:R199C	R	-	1	0	LIN7A	79729482	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.874000	0.87199	1.234000	0.43709	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1	1	0	0	40	192	0	42	0	6.849828e-01	0	13	0	42	2		0	0	0	0	0	2	1	1	40	186	0	42	2								-3.296983	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ACSS3	79611	broad.mit.edu	37	12	81472066	81472066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81472066C>T	ENST00000548058.1	+	1	1077	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3			51					GCACTGTCCTCCGGCAGTGGC	0.711000																								0							SO:0001583	missense			ENST00000548058.1	1	1	hg19	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097479	0.37048	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.27402	1.67;1.67	4.76	4.76	0.60689	.	0.685773	0.12714	N	0.445308	T	0.25344	0.0616	N	0.08118	0	0.80722	D	1	P	0.36789	0.57	P	0.48114	0.567	T	0.03240	-1.1057	10	0.09590	T	0.72	-7.6315	14.7846	0.69793	0.0:1.0:0.0:0.0	.	56	Q9H6R3	ACSS3_HUMAN	F	56	ENSP00000449535:S56F;ENSP00000261206:S56F	ENSP00000261206:S56F	S	+	2	0	ACSS3	79996197	0.082000	0.21442	0.039000	0.18376	0.020000	0.10135	3.245000	0.51407	2.470000	0.83445	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	1	0	1	39	190	0	32	0	7.825893e-01	0	16	0	32	2		0	0	0	0	0	2	1	1	38	187	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ACSS3	79611	broad.mit.edu	37	12	81536950	81536950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81536950C>T	ENST00000548058.1	+	5	1755	c.845C>T	c.(844-846)tCa>tTa	p.S282L	ACSS3_ENST00000261206.3_Missense_Mutation_p.S281L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3			51					AAAGCCCAGTCACATGACTGT	0.438000																								0							SO:0001583	missense			ENST00000548058.1	0	1	hg19	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293466	0.80914	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.10288	2.89;2.89	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.166220	0.56097	D	0.000033	T	0.09423	0.0232	N	0.21142	0.635	0.80722	D	1	P	0.43231	0.801	B	0.38106	0.265	T	0.06679	-1.0813	10	0.59425	D	0.04	-9.6296	16.441	0.83901	0.0:0.8602:0.1398:0.0	.	282	Q9H6R3	ACSS3_HUMAN	L	282;281	ENSP00000449535:S282L;ENSP00000261206:S281L	ENSP00000261206:S281L	S	+	2	0	ACSS3	80061081	0.666000	0.27475	0.998000	0.56505	0.994000	0.84299	2.658000	0.46733	2.797000	0.96272	0.561000	0.74099	TCA		TCGA-IB-7651-01A-11D-2154-08	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	0	0	0	7	270	0	65	0	2.240001e-01	0	31	0	65	2		0	0	0	0	0	2	1	9.802152e-01	7	267	0	65	2								-7.921228	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.320000	0.140000	1.000000	0.290000	0.376751	0.320000	0	2.100000e-01	4.900000e-01
PPFIA2	8499	broad.mit.edu	37	12	81660794	81660794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81660794C>A	ENST00000549396.1	-	30	3652	c.3492G>T	c.(3490-3492)agG>agT	p.R1164S	PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R1164S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2			85					CAAGAATCTGCCTTGCCTGTT	0.358000																								0							SO:0001583	missense			ENST00000549396.1	1	1	hg19	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485167	0.63962	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	D;D;D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.37	2.16	0.27623	.	0.235047	0.29830	N	0.011096	D	0.95582	0.8564	H	0.95187	3.635	0.51482	D	0.999923	.	.	.	.	.	.	D	0.94882	0.8040	8	0.72032	D	0.01	-0.6131	9.5769	0.39463	0.0:0.6552:0.0:0.3448	.	.	.	.	S	1164;1149;700;350;1063;1177;1152;1158;1059;1143	ENSP00000450337:R1164S;ENSP00000450298:R1149S;ENSP00000438337:R700S;ENSP00000445532:R350S;ENSP00000385093:R1063S;ENSP00000327416:R1152S;ENSP00000449338:R1158S;ENSP00000388373:R1059S;ENSP00000447868:R1143S	ENSP00000327416:R1152S	R	-	3	2	PPFIA2	80184925	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.425000	0.21346	0.658000	0.30925	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	1	0	1	19	82	0	19	0	7.994253e-01	0	15	0	19	2		0	0	0	0	0	2	1	9.999945e-01	18	81	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999922	0.990000	1	9.900000e-01	1
PPFIA2	8499	broad.mit.edu	37	12	81661781	81661781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81661781G>A	ENST00000549396.1	-	29	3556	c.3396C>T	c.(3394-3396)agC>agT	p.S1132S	PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000552948.1_Silent_p.S1111S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Silent_p.S1132S|PPFIA2_ENST00000333447.7_Silent_p.S1120S|PPFIA2_ENST00000541017.1_Silent_p.S318S|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000407050.4_Silent_p.S1031S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2			85					CATGCACACCGCTCTCAAGTA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000549396.1	0	1	hg19	CCDS55857.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	1	0	1	10	53	0	13	0	8.563491e-01	0	21	0	13	2		0	0	0	0	0	2	1	9.976685e-01	10	53	0	13	2								-3.341663	1	1	120760	1	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.940000	1.000000	1.000000	0.995590	0.990000	1	9.900000e-01	1
PPFIA2	8499	broad.mit.edu	37	12	81732974	81732974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81732974G>A	ENST00000549396.1	-	21	2693	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	p.R845*(1)		85					TGCCCAAGTCGAGCTTTTTCT	0.413000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000549396.1	0	1	hg19	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981454|3.981454	0.74474|0.74474	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77905	.|-0.2413	.|3	0.02654|.	T|.	1|.	-9.8226|-9.8226	19.7201|19.7201	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	845;827;412;62;771;856;827;845;746;845|7	.|.	ENSP00000327416:R827X|.	R|S	-|-	1|2	2|0	PPFIA2|PPFIA2	80257105|80257105	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.679000|0.679000	0.39708|0.39708	3.168000|3.168000	0.50801|0.50801	2.661000|2.661000	0.90470|0.90470	0.561000|0.561000	0.74099|0.74099	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	1	0	1	141	620	0	128	0	9.064573e-01	0	20	0	128	2		0	0	0	0	0	2	1	1	139	601	1	124	20								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXJ2	55810	broad.mit.edu	37	12	8203160	8203160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8203160G>A	ENST00000162391.3	+	10	2725	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2			16					CTCTACCCTGGCCCATCACCA	0.522000																								0							SO:0001583	missense			ENST00000162391.3	1	1	hg19	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358698	0.82243	.	.	ENSG00000065970	ENST00000162391	D	0.94457	-3.43	5.13	5.13	0.70059	.	0.799837	0.11621	N	0.545746	D	0.96009	0.8700	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93264	0.6646	10	0.34782	T	0.22	.	13.9541	0.64137	0.0:0.0:1.0:0.0	.	527	Q9P0K8	FOXJ2_HUMAN	D	527	ENSP00000162391:G527D	ENSP00000162391:G527D	G	+	2	0	FOXJ2	8094427	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.819000	0.69243	2.655000	0.90218	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	1	0	1	55	281	0	104	1	9.999900e-01	14	75	0	104	2		0	0	0	0	0	2	1	1	53	269	0	104	2								-3.341049	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C3AR1	719	broad.mit.edu	37	12	8211461	8211461	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8211461C>A	ENST00000307637.4	-	2	1524	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1			20					TTCCTAAAATCTTTCCCCAAG	0.478000																								0							SO:0001583	missense			ENST00000307637.4	1	1	hg19	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525039	0.85600	.	.	ENSG00000171860	ENST00000307637	T	0.40476	1.03	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.66973	0.2844	M	0.83223	2.63	0.54753	D	0.999982	D	0.89917	1.0	D	0.69307	0.963	T	0.71567	-0.4554	10	0.87932	D	0	.	16.4145	0.83729	0.0:1.0:0.0:0.0	.	441	Q16581	C3AR_HUMAN	Y	441	ENSP00000302079:D441Y	ENSP00000302079:D441Y	D	-	1	0	C3AR1	8102728	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.746000	0.94184	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1	1	0	1	62	377	0	93	0	1	0	237	0	93	2		0	0	0	0	0	2	1	1	60	366	0	93	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
C3AR1	719	broad.mit.edu	37	12	8212009	8212009	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8212009A>G	ENST00000307637.4	-	2	976	c.773T>C	c.(772-774)gTa>gCa	p.V258A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1			20					AGGTTTAAATACATTAGAATA	0.433000																								0							SO:0001583	missense			ENST00000307637.4	1	1	hg19	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	A	1.748	-0.489924	0.04322	.	.	ENSG00000171860	ENST00000307637	T	0.71222	-0.55	3.99	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	2.097880	0.02844	N	0.128232	T	0.55497	0.1924	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.45234	-0.9275	10	0.72032	D	0.01	.	4.1551	0.10256	0.399:0.3827:0.2183:0.0	.	258	Q16581	C3AR_HUMAN	A	258	ENSP00000302079:V258A	ENSP00000302079:V258A	V	-	2	0	C3AR1	8103276	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	1.092000	0.30927	-0.370000	0.08016	-0.250000	0.11733	GTA		TCGA-IB-7651-01A-11D-2154-08	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1	1	0	1	50	311	0	68	0	1	0	183	0	68	2		0	0	0	0	0	2	1	1	46	302	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
CLEC4A	50856	broad.mit.edu	37	12	8290773	8290773	+	Missense_Mutation	SNP	C	C	T	rs142973159	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8290773C>T	ENST00000229332.5	+	6	851	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A			11					TCCCAATGAGCGCTGCGTTGT	0.438000																								0							SO:0001583	missense			ENST00000229332.5	0	1	hg19	CCDS8590.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.66	2.302802	0.40795	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	3.98	-0.149	0.13420	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.878676	0.09463	N	0.798730	T	0.30541	0.0768	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.931;0.931;0.931;0.959	T	0.15636	-1.0430	10	0.72032	D	0.01	.	4.1835	0.10387	0.0:0.5267:0.1701:0.3032	.	163;130;169;202	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	C	202;130;169;163	ENSP00000229332:R202C;ENSP00000344646:R130C;ENSP00000247243:R169C;ENSP00000353690:R163C	ENSP00000229332:R202C	R	+	1	0	CLEC4A	8182040	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	-0.311000	0.08124	-0.030000	0.13804	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	1	0	0	49	245	0	75	0	9.891784e-01	0	38	0	75	2		0	0	0	0	0	2	1	1	48	241	0	75	2								-20.000000	1	1	121412	6	37	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TMTC2	160335	broad.mit.edu	37	12	83290240	83290240	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:83290240T>G	ENST00000321196.3	+	3	2005	c.1298T>G	c.(1297-1299)cTa>cGa	p.L433R	TMTC2_ENST00000549919.1_Missense_Mutation_p.L427R|TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2			39					GGCTTCTGCCTACTGATTACA	0.393000																								0							SO:0001583	missense			ENST00000321196.3	1	1	hg19	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869647	0.72065	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.47869	0.83;0.83;0.83	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.988;0.99;0.988	T	0.78193	-0.2299	10	0.66056	D	0.02	-14.4338	16.2652	0.82574	0.0:0.0:0.0:1.0	.	433;188;433	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	433;433;427;188	ENSP00000322300:L433R;ENSP00000448292:L433R;ENSP00000447609:L427R	ENSP00000322300:L433R	L	+	2	0	TMTC2	81814371	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.698000	0.84413	2.241000	0.73720	0.528000	0.53228	CTA		TCGA-IB-7651-01A-11D-2154-08	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	1	0	1	90	385	0	86	1	9.965602e-01	22	17	0	86	2		0	0	0	0	0	2	1	1	88	380	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A15	55117	broad.mit.edu	37	12	85255611	85255611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85255611C>A	ENST00000266682.5	-	12	2534	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.E558*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15			44					TTCACAGGCTCTTTCAGGACC	0.413000																								0							SO:0001587	stop_gained			ENST00000266682.5	0	1	hg19	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	40	7.971531	0.98588	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	.	.	.	5.85	4.94	0.65067	.	0.246459	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.8652	0.86027	0.0:0.8717:0.1283:0.0	.	.	.	.	X	665;558;143	.	ENSP00000266682:E665X	E	-	1	0	SLC6A15	83779742	1.000000	0.71417	0.939000	0.37840	0.988000	0.76386	7.364000	0.79526	1.417000	0.47077	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	0	0	1	111	463	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	1	110	457	0	107	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRIQ1	84125	broad.mit.edu	37	12	85449460	85449460	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85449460T>G	ENST00000393217.2	+	8	950	c.889T>G	c.(889-891)Ttt>Gtt	p.F297V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1			83					ATATAAAGCATTTGTTGCCTA	0.299000																								0							SO:0001583	missense			ENST00000393217.2	1	1	hg19	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429297	0.25726	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55588	0.51	5.27	5.27	0.74061	.	0.616553	0.17259	N	0.180844	T	0.57932	0.2087	L	0.43923	1.385	0.28572	N	0.910581	D;P	0.63880	0.993;0.773	P;B	0.53954	0.738;0.162	T	0.56535	-0.7963	10	0.54805	T	0.06	.	13.7459	0.62874	0.0:0.0:0.0:1.0	.	297;272	Q96JM4;C9JI57	LRIQ1_HUMAN;.	V	297;272;297	ENSP00000376910:F297V	ENSP00000256007:F297V	F	+	1	0	LRRIQ1	83973591	0.367000	0.25023	0.540000	0.28089	0.191000	0.23601	2.868000	0.48436	2.004000	0.58718	0.260000	0.18958	TTT		TCGA-IB-7651-01A-11D-2154-08	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1	13	95	0	46	0	4.668305e-02	0	3	0	46	2		0	0	0	0	0	2	1	9.995454e-01	13	91	0	46	2								-8.597831	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.810000	1.000000	1.000000	0.988167	0.990000	1	9.900000e-01	1
LRRIQ1	84125	broad.mit.edu	37	12	85531680	85531680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85531680C>A	ENST00000393217.2	+	19	4323	c.4262C>A	c.(4261-4263)gCt>gAt	p.A1421D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1			83					GCTCTAGAGGCTATTAAGAAT	0.308000																								0							SO:0001583	missense			ENST00000393217.2	1	1	hg19	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784353	0.70222	.	.	ENSG00000133640	ENST00000393217	T	0.55760	0.5	5.56	4.66	0.58398	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.36221	D	0.851972	D	0.53312	0.959	B	0.43623	0.425	T	0.49437	-0.8940	9	0.42905	T	0.14	.	10.6427	0.45602	0.1322:0.7979:0.0:0.0699	.	1421	Q96JM4	LRIQ1_HUMAN	D	1421	ENSP00000376910:A1421D	ENSP00000376910:A1421D	A	+	2	0	LRRIQ1	84055811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.311000	0.59147	1.333000	0.45449	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1	86	376	0	78	0	2.378744e-01	0	5	0	78	2		0	0	0	0	0	2	1	1	85	371	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRIQ1	84125	broad.mit.edu	37	12	85554402	85554402	+	Missense_Mutation	SNP	C	C	T	rs10161468	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85554402C>T	ENST00000393217.2	+	24	4793	c.4732C>T	c.(4732-4734)Cgt>Tgt	p.R1578C	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1			83					TTCCACTGTGCGTCTAGCCTT	0.358000																								0							SO:0001583	missense			ENST00000393217.2	1	0	hg19	CCDS41816.1	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	C	7.164	0.586225	0.13749	0.010691	1.22E-4	ENSG00000133640	ENST00000393217	T	0.69040	-0.37	4.63	2.73	0.32206	.	.	.	.	.	T	0.31071	0.0785	L	0.27053	0.805	0.39311	D	0.965074	B	0.32800	0.385	B	0.20767	0.031	T	0.33240	-0.9876	9	0.56958	D	0.05	.	9.0639	0.36451	0.1471:0.775:0.0:0.0779	rs10161468;rs10161468	1578	Q96JM4	LRIQ1_HUMAN	C	1578	ENSP00000376910:R1578C	ENSP00000376910:R1578C	R	+	1	0	LRRIQ1	84078533	0.999000	0.42202	0.025000	0.17156	0.476000	0.33039	0.585000	0.23879	0.442000	0.26555	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1	35	219	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	34	212	0	80	2								-3.138871	1	1	120784	138	53	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999883	0.990000	1	9.900000e-01	1
LRRIQ1	84125	broad.mit.edu	37	12	85623425	85623425	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85623425A>T	ENST00000393217.2	+	25	5014	c.4953A>T	c.(4951-4953)aaA>aaT	p.K1651N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1			83					GAAATATGAAATGGTGAGGTC	0.338000																								0							SO:0001583	missense			ENST00000393217.2	1	1	hg19	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.38|15.38	2.816446|2.816446	0.50527|0.50527	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.54279|.	0.58|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|.	.|.	.|.	.|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.34800|0.34800	-0.9814|-0.9814	9|5	0.59425|.	D|.	0.04|.	.|.	9.4014|9.4014	0.38435|0.38435	0.9132:0.0:0.0868:0.0|0.9132:0.0:0.0868:0.0	.|.	1651|.	Q96JM4|.	LRIQ1_HUMAN|.	N|I	1651|72	ENSP00000376910:K1651N|.	ENSP00000376910:K1651N|.	K|N	+|+	3|2	2|0	LRRIQ1|LRRIQ1	84147556|84147556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.872000|2.872000	0.48467|0.48467	2.263000|2.263000	0.75096|0.75096	0.528000|0.528000	0.53228|0.53228	AAA|AAT		TCGA-IB-7651-01A-11D-2154-08	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1	61	256	0	66	0	3.802570e-02	1	1	0	66	2		0	0	0	0	0	2	1	1	60	252	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALX1	8092	broad.mit.edu	37	12	85695100	85695100	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85695100C>A	ENST00000316824.3	+	4	983	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	p.P276P(1)		26					GCCACGTGCCCCTCAACAATT	0.478000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000316824.3	1	1	hg19	CCDS9028.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	1	0	0	41	500	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1	38	485	0	87	2								-2.329789	0	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.900000	0.660000	1.000000	1.000000	0.894466	0.900000	1	7.700000e-01	1
NTS	4922	broad.mit.edu	37	12	86272330	86272330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:86272330G>A	ENST00000256010.6	+	3	450	c.343G>A	c.(343-345)Gct>Act	p.A115T	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin			8					TCACAGCAGGGCTTTTCAACA	0.353000																								0							SO:0001583	missense			ENST00000256010.6	1	1	hg19	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773904	0.49786	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.32	5.32	0.75619	.	0.294351	0.34750	N	0.003709	T	0.49474	0.1559	L	0.50333	1.59	0.34515	D	0.707496	P	0.39717	0.684	B	0.41036	0.346	T	0.61628	-0.7024	9	0.32370	T	0.25	-2.8639	13.3229	0.60442	0.0757:0.0:0.9243:0.0	.	115	P30990	NEUT_HUMAN	T	115;60	.	ENSP00000256010:A115T	A	+	1	0	NTS	84796461	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	2.658000	0.46733	2.477000	0.83638	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2	1	0	1	78	298	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	77	290	0	67	2								-20.000000	1	0	121412	2	34	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC4E	26253	broad.mit.edu	37	12	8691851	8691851	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8691851T>G	ENST00000299663.3	-	3	347	c.182A>C	c.(181-183)gAg>gCg	p.E61A	CLEC4E_ENST00000446457.2_Missense_Mutation_p.E61A|CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E			12	Lung SC(5;0.184)				TGTGAAATTCTCAGGTAGCTG	0.348000																								0							SO:0001583	missense			ENST00000299663.3	1	1	hg19	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942145	0.34283	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.38560	2.34;1.13	3.92	0.128	0.14733	C-type lectin-like (1);	0.754446	0.11791	N	0.529157	T	0.32645	0.0836	L	0.55481	1.735	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.22208	-1.0223	10	0.29301	T	0.29	.	6.2796	0.20999	0.0:0.3235:0.0:0.6765	.	61	Q9ULY5	CLC4E_HUMAN	A	61	ENSP00000299663:E61A;ENSP00000443034:E61A	ENSP00000299663:E61A	E	-	2	0	CLEC4E	8583118	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.342000	0.19926	0.022000	0.15160	-0.250000	0.11733	GAG		TCGA-IB-7651-01A-11D-2154-08	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	1	0	1	111	438	0	125	0	9.999996e-01	0	84	0	125	2		0	0	0	0	0	2	1	1	110	431	0	124	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C12orf50	160419	broad.mit.edu	37	12	88380103	88380103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88380103G>T	ENST00000298699.2	-	10	1088	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50			34					CTGCATTCCAGAGTTAGGAAA	0.303000																								0							SO:0001583	missense			ENST00000298699.2	1	1	hg19	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173542	0.38413	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.34275	1.38;1.37	6.01	6.01	0.97437	.	0.547279	0.19009	N	0.125123	T	0.42040	0.1185	L	0.44542	1.39	0.32994	D	0.525332	D;P	0.54964	0.969;0.874	P;B	0.47827	0.558;0.444	T	0.53933	-0.8368	10	0.72032	D	0.01	.	17.4379	0.87557	0.0:0.0:1.0:0.0	.	318;303	G3V208;Q8NA57	.;CL050_HUMAN	Y	303;264;318	ENSP00000298699:S303Y;ENSP00000448344:S264Y	ENSP00000298699:S303Y	S	-	2	0	C12orf50	86904234	0.980000	0.34600	0.891000	0.34965	0.048000	0.14542	2.849000	0.48286	2.861000	0.98227	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	1	0	1	41	296	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	39	295	0	48	2								-3.142741	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999500	0.990000	1	9.900000e-01	1
C12orf29	91298	broad.mit.edu	37	12	88437384	88437384	+	Missense_Mutation	SNP	T	T	C	rs74511812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88437384T>C	ENST00000356891.3	+	4	516	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29			5					agaatttttttGGAACGTTGA	0.358000																								0							SO:0001583	missense			ENST00000356891.3	1	1	hg19	CCDS31866.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489869	0.64074	.	.	ENSG00000133641	ENST00000356891	T	0.39592	1.07	5.45	5.45	0.79879	.	0.057827	0.85682	D	0.000000	T	0.43233	0.1238	M	0.73598	2.24	0.80722	D	1	P	0.42620	0.785	B	0.35240	0.198	T	0.53927	-0.8369	10	0.87932	D	0	-22.0648	14.3702	0.66833	0.0:0.0:0.0:1.0	.	105	Q8N999	CL029_HUMAN	R	105	ENSP00000349358:W105R	ENSP00000349358:W105R	W	+	1	0	C12orf29	86961515	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.237000	0.78164	2.189000	0.69895	0.460000	0.39030	TGG		TCGA-IB-7651-01A-11D-2154-08	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	1	0	1	27	86	0	25	1	9.999923e-01	18	49	0	25	2		0	0	0	0	0	2	1	1	27	85	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP290	80184	broad.mit.edu	37	12	88449353	88449353	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88449353C>T	ENST00000552810.1	-	50	7303	c.6960G>A	c.(6958-6960)caG>caA	p.Q2320Q	CEP290_ENST00000309041.7_Splice_Site_p.Q2322Q|CEP290_ENST00000547691.2_Splice_Site_p.Q1380Q|CEP290_ENST00000397838.3_Splice_Site_p.Q1380Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa			73					CGTTACTTACCTGTTGTTCAA	0.294000																								0							SO:0001630	splice_region_variant			ENST00000552810.1	0	1	hg19	CCDS55858.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	0	0	0	4	26	0	8	1	8.949379e-01	4	26	0	8	2		0	0	0	0	0	2	1	8.949379e-01	4	26	0	8	2								-5.986057	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.540000	1.000000	1.000000	0.953849	0.990000	1	9.200000e-01	1
TMTC3	160418	broad.mit.edu	37	12	88566449	88566449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88566449C>T	ENST00000266712.6	+	8	1346	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3			31					TGTTGCCGAGCGAGTATTATA	0.353000																								0							SO:0001587	stop_gained			ENST00000266712.6	0	1	hg19	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	38	6.871926	0.97901	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.54	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9127	14.6929	0.69098	0.265:0.735:0.0:0.0	.	.	.	.	X	376	.	ENSP00000266712:R376X	R	+	1	2	TMTC3	87090580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.164000	0.31810	0.656000	0.30886	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	1	0	0	83	472	0	82	0	9.336495e-01	0	28	0	82	2		0	0	0	0	0	2	1	1	83	459	0	82	2								-20.000000	1	1	121404	2	32	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIMKLB	57494	broad.mit.edu	37	12	8926260	8926260	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926260T>G	ENST00000538135.1	+	6	1866	c.1041T>G	c.(1039-1041)agT>agG	p.S347R	RIMKLB_ENST00000357529.3_Missense_Mutation_p.S347R|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000299673.5_Intron			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B			18					TGAGTGCAAGTTCCAGCTCTG	0.587000																								0							SO:0001583	missense			ENST00000538135.1	1	1	hg19	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954709	0.34471	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	3.05	0.35203	.	0.052881	0.85682	U	0.000000	T	0.26629	0.0651	N	0.24115	0.695	0.46954	D	0.999268	P	0.50943	0.94	B	0.38655	0.278	T	0.02533	-1.1145	8	.	.	.	.	6.479	0.22053	0.0:0.3151:0.0:0.6849	.	347	Q9ULI2	RIMKB_HUMAN	R	347	.	.	S	+	3	2	RIMKLB	8817527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.199000	0.32235	0.996000	0.38943	0.482000	0.46254	AGT		TCGA-IB-7651-01A-11D-2154-08	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	1	0	1	127	550	0	147	1	9.999963e-01	22	56	0	147	2		0	0	0	0	0	2	1	1	125	543	0	146	2								-20.000000	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIMKLB	57494	broad.mit.edu	37	12	8926329	8926329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926329G>A	ENST00000538135.1	+	6	1935	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	RIMKLB_ENST00000357529.3_Silent_p.L370L|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000299673.5_Intron			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B			18					CAGGGGGCCTGTTCAACATGA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000538135.1	1	1	hg19	CCDS41748.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	1	0	1	125	530	0	138	1	9.999983e-01	33	48	0	138	2		0	0	0	0	0	2	1	1	123	525	0	137	2								-20.000000	1	0	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
A2ML1	144568	broad.mit.edu	37	12	8975302	8975302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8975302G>T	ENST00000299698.7	+	1	235	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	A2ML1-AS2_ENST00000394240.3_RNA|A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1			80					CATTGCAGAAGAACTTCCGTG	0.483000																								0							SO:0001587	stop_gained			ENST00000299698.7	0	1	hg19	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	37	6.347612	0.97494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	.	.	.	4.09	-0.855	0.10700	.	2.920560	0.01169	N	0.006836	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	2.3015	0.04163	0.1589:0.4917:0.1829:0.1665	.	.	.	.	X	19	.	ENSP00000299698:E19X	E	+	1	0	A2ML1	8866569	0.001000	0.12720	0.001000	0.08648	0.721000	0.41392	-0.003000	0.12901	-0.166000	0.10890	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1	80	320	0	83	0	0	1	0	0	83	2		0	0	0	0	0	2	1	1	80	317	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POC1B	282809	broad.mit.edu	37	12	89815013	89815013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89815013G>A	ENST00000313546.3	-	12	1482	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000393179.4_Nonsense_Mutation_p.R322*|POC1B_ENST00000541909.1_3'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B			14					AAAGTCAGTCGCTGCTCCAAG	0.398000																								0							SO:0001587	stop_gained			ENST00000313546.3	0	1	hg19	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	G	42	9.725795	0.99248	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	.	.	.	X	322;452;410	.	ENSP00000323302:R452X	R	-	1	2	POC1B	88339144	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.692000	0.74578	2.617000	0.88574	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	0	0	0	5	62	0	21	1	9.873546e-01	5	106	0	21	2		0	0	0	0	0	2	1	9.375765e-01	5	61	0	21	2								-9.370022	1	1	121372	2	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.940000	0.360000	1.000000	1.000000	0.841993	0.940000	1	6.000000e-01	1
POC1B	282809	broad.mit.edu	37	12	89885781	89885781	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89885781T>C	ENST00000313546.3	-	4	512	c.384A>G	c.(382-384)gtA>gtG	p.V128V	POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000541909.1_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B			14					ACATGCTCCATACTTTTATGG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000313546.3	1	1	hg19	CCDS31869.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	1	0	1	29	323	0	75	1	9.825553e-01	18	56	0	75	2		0	0	0	0	0	2	1	1	28	317	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.670000	1.000000	1.000000	0.930968	0.990000	1	8.200000e-01	1
ATP2B1	490	broad.mit.edu	37	12	89985005	89985005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89985005G>A	ENST00000428670.3	-	21	3875	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L	AC068641.1_ENST00000585304.1_RNA|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L|ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L|ATP2B1_ENST00000359142.3_3'UTR			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	p.S1140L(1)		45					GTTGTGAATCGAACTTCTTGA	0.378000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000428670.3	1	1	hg19	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.344223|3.344223	0.61073|0.61073	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164	.|T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35	5.39|5.39	4.49|4.49	0.54785|0.54785	.|.	.|0.252429	.|0.41605	.|D	.|0.000851	.|D	.|0.90525	.|0.7031	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.082	.|D;B	.|0.77557	.|0.99;0.031	.|D	.|0.91365	.|0.5115	.|10	.|0.48119	.|T	.|0.1	-15.288|-15.288	16.1779|16.1779	0.81874|0.81874	0.0:0.1335:0.8665:0.0|0.0:0.1335:0.8665:0.0	.|.	.|1140;1104	.|P20020-3;P20020-6	.|.;.	X|L	121|1140;1104;1140;883	.|ENSP00000261173:S1140L;ENSP00000343599:S1104L;ENSP00000392043:S1140L;ENSP00000376869:S883L	.|ENSP00000261173:S1140L	R|S	-|-	1|2	2|0	ATP2B1|ATP2B1	88509136|88509136	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.985000|0.985000	0.73830|0.73830	9.869000|9.869000	0.99810|0.99810	1.245000|1.245000	0.43885|0.43885	0.591000|0.591000	0.81541|0.81541	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	1	87	358	0	83	1	1	35	102	0	83	2		0	0	0	0	0	2	1	1	86	352	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2B1	490	broad.mit.edu	37	12	89996890	89996890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89996890C>A	ENST00000428670.3	-	18	3446	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1			45					GAATACATTTCTTTCACCATG	0.348000																								0							SO:0001583	missense			ENST00000428670.3	1	1	hg19	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.177853|5.177853	0.94846|0.94846	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.|D;D;D;D;D	.|0.94862	.|-3.54;-3.54;-3.54;-3.54;-3.54	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96191	.|0.8758	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.76494	.|0.999;0.36;0.323	.|D;B;B	.|0.83275	.|0.996;0.158;0.048	.|D	.|0.96487	.|0.9361	.|10	.|0.59425	.|D	.|0.04	-8.967|-8.967	18.7145|18.7145	0.91670|0.91670	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|997;997;997	.|P20020-3;P20020-2;P20020-6	.|.;.;.	X|I	14|997;997;997;997;740	.|ENSP00000261173:R997I;ENSP00000343599:R997I;ENSP00000352054:R997I;ENSP00000392043:R997I;ENSP00000376869:R740I	.|ENSP00000261173:R997I	E|R	-|-	1|2	0|0	ATP2B1|ATP2B1	88521021|88521021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.485000|2.485000	0.83878|0.83878	0.563000|0.563000	0.77884|0.77884	GAA|AGA		TCGA-IB-7651-01A-11D-2154-08	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	0	10	241	0	48	1	9.564604e-01	7	126	0	48	2		0	0	0	0	0	2	1	9.969239e-01	10	239	0	48	2								-4.076707	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.490000	0.250000	1.000000	0.460000	0.537013	0.490000	0	3.500000e-01	7.000000e-01
A2ML1	144568	broad.mit.edu	37	12	9002321	9002321	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9002321T>C	ENST00000299698.7	+	17	2265	c.2085T>C	c.(2083-2085)agT>agC	p.S695S	A2ML1_ENST00000539547.1_Silent_p.S204S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1			80					TAGATTGCAGTCACAGATCTC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000299698.7	1	1	hg19	CCDS8596.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1	60	298	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	60	289	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2B1	490	broad.mit.edu	37	12	90024332	90024332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024332G>T	ENST00000428670.3	-	6	1334	c.878C>A	c.(877-879)gCt>gAt	p.A293D	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1			45					ttcACCTCCAGCTCCAAGTAA	0.343000																								0							SO:0001583	missense			ENST00000428670.3	1	1	hg19	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935294	0.73442	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.42	5.42	0.78866	.	0.221912	0.46758	D	0.000261	D	0.87116	0.6097	L	0.29908	0.895	0.80722	D	1	P;B	0.46512	0.879;0.045	B;B	0.43103	0.408;0.093	D	0.85982	0.1483	9	.	.	.	-31.7678	19.2222	0.93801	0.0:0.0:1.0:0.0	.	293;293	P20020-3;P20020-2	.;.	D	293;293;293;293;36	ENSP00000261173:A293D;ENSP00000343599:A293D;ENSP00000352054:A293D;ENSP00000392043:A293D;ENSP00000376869:A36D	.	A	-	2	0	ATP2B1	88548463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.213000	0.72194	2.555000	0.86185	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	0	0	1	38	192	0	56	1	9.999994e-01	28	88	0	56	2		0	0	0	0	0	2	1	1	37	189	0	56	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ATP2B1	490	broad.mit.edu	37	12	90024380	90024380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024380G>A	ENST00000428670.3	-	6	1286	c.830C>T	c.(829-831)gCt>gTt	p.A277V	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1			45					TACACCTACAGCTGTAACTAC	0.363000																								0							SO:0001583	missense			ENST00000428670.3	1	1	hg19	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455931	0.96223	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99	5.48	5.48	0.80851	.	0.104870	0.64402	D	0.000003	D	0.97034	0.9031	M	0.91717	3.235	0.80722	D	1	D;D	0.71674	0.998;0.987	D;D	0.80764	0.994;0.948	D	0.97468	1.0039	9	.	.	.	-21.5485	19.35	0.94379	0.0:0.0:1.0:0.0	.	277;277	P20020-3;P20020-2	.;.	V	277;277;277;277;20	ENSP00000261173:A277V;ENSP00000343599:A277V;ENSP00000352054:A277V;ENSP00000392043:A277V;ENSP00000376869:A20V	.	A	-	2	0	ATP2B1	88548511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.799000	0.99117	2.574000	0.86865	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	1	35	232	0	71	1	9.998939e-01	22	73	0	71	2		0	0	0	0	0	2	1	1	33	228	0	71	2								-16.169270	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999727	0.990000	1	9.900000e-01	1
A2ML1	144568	broad.mit.edu	37	12	9004397	9004397	+	Missense_Mutation	SNP	C	C	T	rs61741216	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9004397C>T	ENST00000299698.7	+	19	2432	c.2252C>T	c.(2251-2253)gCg>gTg	p.A751V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A260V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1			80					GGGAAGGAGGCGGTCCACGTC	0.532000																								0							SO:0001583	missense			ENST00000299698.7	1	0	hg19	CCDS8596.2	11	0.005036630036630037	9	0.018292682926829267	2	0.0055248618784530384	0	0.0	0	0.0	C	8.032	0.761893	0.15914	0.028758	1.19E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.25912	1.77;1.77;1.77	3.32	3.32	0.38043	Alpha-2-macroglobulin (1);	0.303473	0.23342	N	0.049222	T	0.02727	0.0082	N	0.01188	-0.97	0.22468	N	0.999074	B	0.18610	0.029	B	0.15484	0.013	T	0.18335	-1.0340	10	0.59425	D	0.04	.	9.8835	0.41247	0.2046:0.7954:0.0:0.0	rs61741216	751	A8K2U0	A2ML1_HUMAN	V	751;751;301;260	ENSP00000299698:A751V;ENSP00000443174:A301V;ENSP00000438292:A260V	ENSP00000299698:A751V	A	+	2	0	A2ML1	8895664	0.000000	0.05858	0.880000	0.34516	0.082000	0.17680	-0.027000	0.12371	2.167000	0.68274	0.442000	0.29010	GCG		TCGA-IB-7651-01A-11D-2154-08	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1	29	178	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	28	171	0	31	2								-4.139665	1	1	120988	329	55	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999156	0.990000	1	9.900000e-01	1
ATP2B1	490	broad.mit.edu	37	12	90049503	90049503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90049503C>T	ENST00000428670.3	-	2	617	c.161G>A	c.(160-162)gGa>gAa	p.G54E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1			45					ATAGACATCTCCATAGCTTTC	0.403000																								0							SO:0001583	missense			ENST00000428670.3	1	1	hg19	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152498	0.78001	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000551310	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.48	5.48	0.80851	.	0.052038	0.85682	D	0.000000	D	0.87533	0.6201	M	0.89534	3.04	0.80722	D	1	B;P	0.34815	0.046;0.47	B;P	0.46172	0.027;0.506	D	0.86701	0.1929	9	.	.	.	0.5749	19.7147	0.96110	0.0:1.0:0.0:0.0	.	54;54	P20020-3;P20020-2	.;.	E	54	ENSP00000261173:G54E;ENSP00000343599:G54E;ENSP00000352054:G54E;ENSP00000392043:G54E	.	G	-	2	0	ATP2B1	88573634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.577000	0.60922	2.732000	0.93576	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	1	0	1	54	247	0	50	1	9.994485e-01	17	37	0	50	2		0	0	0	0	0	2	1	1	52	245	0	49	2								-2.903339	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
A2ML1	144568	broad.mit.edu	37	12	9009783	9009783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9009783C>T	ENST00000299698.7	+	24	3052	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q467*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1			80					CACAGCCCTGCAGAACCTGGA	0.517000																								0							SO:0001587	stop_gained			ENST00000299698.7	0	1	hg19	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	40	8.509052	0.98841	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.54	-2.53	0.06326	.	0.179059	0.26112	N	0.026267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.3273	0.15913	0.4006:0.4516:0.0:0.1478	.	.	.	.	X	958;958;508;467	.	ENSP00000299698:Q958X	Q	+	1	0	A2ML1	8901050	0.691000	0.27709	0.699000	0.30290	0.795000	0.44927	0.099000	0.15210	-0.726000	0.04895	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	0	0	0	12	498	0	111	0	2.030469e-03	0	3	0	111	2		0	0	0	0	0	2	1	9.990568e-01	12	491	0	109	2								-3.193374	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.270000	0.140000	0.440000	0.260000	0.285115	0.270000	0	2.000000e-01	3.600000e-01
A2ML1	144568	broad.mit.edu	37	12	9010616	9010616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9010616A>C	ENST00000299698.7	+	26	3362	c.3182A>C	c.(3181-3183)gAt>gCt	p.D1061A	A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1			80					AACATCCAGGATGCTCTCAAG	0.488000																								0							SO:0001583	missense			ENST00000299698.7	1	1	hg19	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378609	0.24944	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.37584	1.19;1.19;1.19	3.85	-0.536	0.11876	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.601795	0.15417	N	0.263424	T	0.24236	0.0587	L	0.28400	0.85	0.09310	N	1	P	0.37548	0.599	B	0.41135	0.348	T	0.15009	-1.0452	10	0.30854	T	0.27	.	6.1607	0.20362	0.4837:0.3779:0.0:0.1384	.	1061	A8K2U0	A2ML1_HUMAN	A	1061;1061;611;570	ENSP00000299698:D1061A;ENSP00000443174:D611A;ENSP00000438292:D570A	ENSP00000299698:D1061A	D	+	2	0	A2ML1	8901883	0.080000	0.21391	0.998000	0.56505	0.597000	0.36814	1.458000	0.35223	0.129000	0.18514	-0.333000	0.08304	GAT		TCGA-IB-7651-01A-11D-2154-08	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1	98	365	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	97	354	0	97	2								-20.000000	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
A2ML1	144568	broad.mit.edu	37	12	9016434	9016434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9016434G>A	ENST00000299698.7	+	29	3727	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T	A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1			80					ATCATCGAACGCCAGCCCTTG	0.488000																								0							SO:0001583	missense			ENST00000299698.7	1	1	hg19	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	7.875	0.729032	0.15507	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.33438	1.41;1.41;1.41	4.09	2.96	0.34315	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.733359	0.11961	N	0.512732	T	0.12646	0.0307	N	0.10664	0.02	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.34004	-0.9846	10	0.12430	T	0.62	.	3.8258	0.08853	0.2646:0.1927:0.5427:0.0	.	1183	A8K2U0	A2ML1_HUMAN	T	1183;1183;733;692	ENSP00000299698:A1183T;ENSP00000443174:A733T;ENSP00000438292:A692T	ENSP00000299698:A1183T	A	+	1	0	A2ML1	8907701	0.000000	0.05858	0.008000	0.14137	0.348000	0.29142	0.647000	0.24812	0.789000	0.33779	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	0	0	1	71	266	1	78		0	0	0	1	78	2		0	0	0	0	0	2	1	1	70	257	0	77	2								-3.606529	1	1	120848	1	37	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
A2ML1	144568	broad.mit.edu	37	12	9020513	9020513	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9020513G>T	ENST00000299698.7	+	30	3973	c.3793G>T	c.(3793-3795)Gtt>Ttt	p.V1265F	A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1			80					GATCAACCTGGTTGTAAAATC	0.453000																								0							SO:0001583	missense			ENST00000299698.7	1	1	hg19	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311419	0.23821	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.31769	1.48;1.6;2.14	3.63	1.79	0.24919	.	1.178110	0.06631	N	0.759227	T	0.28366	0.0701	L	0.58810	1.83	0.24162	N	0.995651	P	0.35944	0.529	B	0.32022	0.139	T	0.30416	-0.9979	10	0.66056	D	0.02	.	5.4362	0.16482	0.4473:0.0:0.5527:0.0	.	1265	A8K2U0	A2ML1_HUMAN	F	1265;1265;815;774	ENSP00000299698:V1265F;ENSP00000443174:V815F;ENSP00000438292:V774F	ENSP00000299698:V1265F	V	+	1	0	A2ML1	8911780	0.908000	0.30866	0.144000	0.22314	0.527000	0.34593	1.735000	0.38176	0.517000	0.28361	0.561000	0.74099	GTT		TCGA-IB-7651-01A-11D-2154-08	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	1	0	1	69	330	0	73	0	3.083088e-02	0	2	0	73	2		0	0	0	0	0	2	1	1	69	323	0	73	2								-3.361190	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHC1	1911	broad.mit.edu	37	12	9089850	9089850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089850C>T	ENST00000543824.1	+	14	2888	c.2556C>T	c.(2554-2556)cgC>cgT	p.R852R	PHC1_ENST00000544916.1_Silent_p.R852R|PHC1_ENST00000433083.2_Silent_p.R807R|PHC1_ENST00000536844.1_Silent_p.R458R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)			27					ACTATGCTCGCGTTCGCAGGC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000543824.1	0	1	hg19	CCDS8597.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	0	0	1	33	145	0	18	1	5.836966e-01	3	7	0	18	2		0	0	0	0	0	2	1	1	33	144	0	23	2								-20.000000	1	0	121396	1	24	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
PHC1	1911	broad.mit.edu	37	12	9089855	9089855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089855G>A	ENST00000543824.1	+	14	2893	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	PHC1_ENST00000544916.1_Missense_Mutation_p.R854H|PHC1_ENST00000433083.2_Missense_Mutation_p.R809H|PHC1_ENST00000536844.1_Missense_Mutation_p.R460H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	p.R854H(1)		27					GCTCGCGTTCGCAGGCGTGGA	0.537000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000543824.1	0	1	hg19	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860889	0.71834	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.55413	1.4;1.4;1.36;1.4;0.52	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	L	0.43152	1.355	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.68040	-0.5514	10	0.72032	D	0.01	-1.6997	19.1776	0.93609	0.0:0.0:1.0:0.0	.	854	P78364	PHC1_HUMAN	H	854;854;809;854;460	ENSP00000440674:R854H;ENSP00000251757:R854H;ENSP00000399194:R809H;ENSP00000437659:R854H;ENSP00000440488:R460H	ENSP00000251757:R854H	R	+	2	0	PHC1	8981122	1.000000	0.71417	0.920000	0.36463	0.964000	0.63967	4.890000	0.63178	2.624000	0.88883	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	1	0	1	31	149	0	19	1	5.384901e-01	3	7	0	19	2		0	0	0	0	0	2	1	1	31	148	0	24	2								-20.000000	1	0	121400	2	29	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999932	0.990000	1	9.900000e-01	1
EPYC	1833	broad.mit.edu	37	12	91371927	91371927	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91371927A>G	ENST00000261172.3	-	3	370	c.278T>C	c.(277-279)aTt>aCt	p.I93T		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan			18					AGAGCCATCAATCAGCCTGGG	0.537000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000261172.3	1	1	hg19	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720306	0.30503	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.66099	0.5;-0.19	5.48	4.34	0.51931	.	0.359483	0.34338	N	0.004043	T	0.56529	0.1991	L	0.53249	1.67	0.42210	D	0.9918	B	0.09022	0.002	B	0.12837	0.008	T	0.54377	-0.8303	10	0.48119	T	0.1	.	11.5031	0.50450	0.9294:0.0:0.0706:0.0	.	93	Q99645	EPYC_HUMAN	T	93	ENSP00000261172:I93T;ENSP00000448272:I93T	ENSP00000261172:I93T	I	-	2	0	EPYC	89896058	1.000000	0.71417	0.780000	0.31762	0.460000	0.32559	5.945000	0.70226	1.027000	0.39758	0.454000	0.30748	ATT		TCGA-IB-7651-01A-11D-2154-08	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	1	0	1	81	402	0	103	0	2.887446e-02	0	2	0	103	2		0	0	0	0	0	2	1	1	77	391	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KERA	11081	broad.mit.edu	37	12	91449450	91449450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449450G>A	ENST00000266719.3	-	2	856	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan			19					TATTCCTCAGGGCATTCTTGG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000266719.3	1	1	hg19	CCDS9037.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	1	0	1	126	570	0	118	0	8.767437e-02	0	3	0	118	2		0	0	0	0	0	2	1	1	125	564	0	118	2								-3.272487	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KERA	11081	broad.mit.edu	37	12	91449713	91449713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449713C>T	ENST00000266719.3	-	2	593	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan			19					TGGCTTAGGGCTCCTTTTTCA	0.383000																								0							SO:0001583	missense			ENST00000266719.3	1	0	hg19	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265624	0.80358	.	.	ENSG00000139330	ENST00000266719	T	0.60299	0.2	5.85	5.85	0.93711	.	0.224880	0.48286	D	0.000191	T	0.57548	0.2061	L	0.37750	1.13	0.41250	D	0.986709	P	0.37688	0.605	P	0.45660	0.489	T	0.56300	-0.8002	10	0.42905	T	0.14	-8.7596	15.6933	0.77473	0.0:0.8639:0.1361:0.0	.	116	O60938	KERA_HUMAN	T	116	ENSP00000266719:A116T	ENSP00000266719:A116T	A	-	1	0	KERA	89973844	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.561000	0.60809	2.789000	0.95967	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	1	0	1	101	531	0	107	0	1.245482e-01	0	4	0	107	2		0	0	0	0	0	2	1	1	99	522	0	107	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KERA	11081	broad.mit.edu	37	12	91449741	91449741	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449741T>G	ENST00000266719.3	-	2	565	c.318A>C	c.(316-318)aaA>aaC	p.K106N		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan			19					AGTTGGTTATTTTGTTCTTGT	0.383000																								0							SO:0001583	missense			ENST00000266719.3	1	1	hg19	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284185	0.59867	.	.	ENSG00000139330	ENST00000266719	T	0.54866	0.55	6.04	3.63	0.41609	.	0.041188	0.85682	D	0.000000	T	0.54303	0.1850	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.72625	0.978	T	0.51379	-0.8713	10	0.33141	T	0.24	-36.8212	5.5376	0.17020	0.1198:0.1838:0.0:0.6964	.	106	O60938	KERA_HUMAN	N	106	ENSP00000266719:K106N	ENSP00000266719:K106N	K	-	3	2	KERA	89973872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.605000	0.36815	1.085000	0.41206	0.529000	0.55759	AAA		TCGA-IB-7651-01A-11D-2154-08	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	1	0	0	20	520	0	90	0	1.441385e-02	0	5	0	90	2		0	0	0	0	0	2	1	9.999944e-01	20	510	0	90	2								-18.948100	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.450000	0.280000	1.000000	0.440000	0.490012	0.450000	0	3.500000e-01	5.800000e-01
KERA	11081	broad.mit.edu	37	12	91450049	91450049	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91450049T>G	ENST00000266719.3	-	2	257	c.10A>C	c.(10-12)Aca>Cca	p.T4P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan			19					AAACAGATTGTGCCTGCCATT	0.358000																								0							SO:0001583	missense			ENST00000266719.3	1	1	hg19	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	0.130	-1.114561	0.01799	.	.	ENSG00000139330	ENST00000266719	T	0.55234	0.53	5.96	-0.939	0.10408	.	1.074070	0.06975	N	0.818779	T	0.27313	0.0670	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	10	0.25751	T	0.34	0.0551	7.3371	0.26615	0.0:0.0984:0.3703:0.5313	.	4	O60938	KERA_HUMAN	P	4	ENSP00000266719:T4P	ENSP00000266719:T4P	T	-	1	0	KERA	89974180	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.013000	0.13310	-0.076000	0.12775	0.528000	0.53228	ACA		TCGA-IB-7651-01A-11D-2154-08	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	1	0	1	50	208	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	50	207	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LUM	4060	broad.mit.edu	37	12	91502072	91502072	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91502072T>C	ENST00000266718.4	-	2	1139	c.685A>G	c.(685-687)Aat>Gat	p.N229D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican			24					TGCAATGCATTAAAACGCTTG	0.433000																								0							SO:0001583	missense			ENST00000266718.4	1	1	hg19	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737966	0.30774	.	.	ENSG00000139329	ENST00000266718	T	0.56611	0.45	5.84	4.7	0.59300	.	1.142620	0.06250	N	0.691833	T	0.42944	0.1225	N	0.16166	0.38	0.09310	N	1	B	0.16166	0.016	B	0.25987	0.065	T	0.43294	-0.9400	10	0.59425	D	0.04	-14.8601	11.6157	0.51088	0.0:0.0691:0.0:0.9309	.	229	P51884	LUM_HUMAN	D	229	ENSP00000266718:N229D	ENSP00000266718:N229D	N	-	1	0	LUM	90026203	0.517000	0.26226	0.037000	0.18230	0.844000	0.47949	2.745000	0.47459	1.049000	0.40321	0.455000	0.32223	AAT		TCGA-IB-7651-01A-11D-2154-08	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	1	0	1	115	576	0	118	0	1	0	6851	0	118	2		0	0	0	0	0	2	1	1	112	568	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCN	1634	broad.mit.edu	37	12	91545540	91545540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91545540G>T	ENST00000052754.5	-	7	1277	c.776C>A	c.(775-777)gCt>gAt	p.A259D	DCN_ENST00000228329.5_Missense_Mutation_p.A150D|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000552962.1_Missense_Mutation_p.A259D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin			20					ATTGTCAACAGCAGAGATGCT	0.473000																								0							SO:0001583	missense			ENST00000052754.5	1	1	hg19	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.542|0.542	-0.853349|-0.853349	0.02630|0.02630	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	5.58|5.58	0.558|0.558	0.17266|0.17266	.|.	0.841391|.	0.11300|.	N|.	0.578333|.	T|.	0.21718|.	0.0523|.	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30889|.	0.0;0.0;0.299|.	B;B;B|.	0.23852|.	0.001;0.001;0.049|.	T|.	0.28459|.	-1.0043|.	10|.	0.02654|.	T|.	1|.	.|.	8.2526|8.2526	0.31735|0.31735	0.324:0.1011:0.5748:0.0|0.324:0.1011:0.5748:0.0	.|.	259;112;150|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	D|X	259;150;259;112;259;150;112;112|28	ENSP00000052754:A259D;ENSP00000228329:A150D;ENSP00000376862:A259D;ENSP00000401021:A112D;ENSP00000447654:A259D;ENSP00000413723:A150D;ENSP00000447674:A112D;ENSP00000446530:A112D|.	ENSP00000052754:A259D|.	A|C	-|-	2|3	0|2	DCN|DCN	90069671|90069671	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.291000|0.291000	0.27294|0.27294	0.596000|0.596000	0.24044|0.24044	-0.309000|-0.309000	0.08779|0.08779	-1.094000|-1.094000	0.02160|0.02160	GCT|TGC		TCGA-IB-7651-01A-11D-2154-08	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	1	0	0	11	152	0	38	0	1	0	3038	0	38	2		0	0	0	0	0	2	1	9.983532e-01	12	148	0	37	2								-15.297700	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.830000	0.440000	1.000000	1.000000	0.813280	0.830000	0	6.100000e-01	1
A2M	2	broad.mit.edu	37	12	9225459	9225459	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9225459C>A	ENST00000318602.7	-	30	4072	c.3765G>T	c.(3763-3765)gtG>gtT	p.V1255V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin			77				Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGAGAGCCACCACTGTGTCCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000318602.7	0	1	hg19	CCDS44827.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	0	0	0	14	146	0	24	0	1	1	2689	0	24	2		0	0	0	0	0	2	1	9.997695e-01	13	144	0	24	2								-19.649600	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.980000	0.570000	1.000000	1.000000	0.907381	0.980000	1	7.600000e-01	1
A2M	2	broad.mit.edu	37	12	9243824	9243824	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9243824G>T	ENST00000318602.7	-	19	2749	c.2442C>A	c.(2440-2442)gtC>gtA	p.V814V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin			77				Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGTAGTTTAGGACCGTGGCCT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000318602.7	1	1	hg19	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.118899	0.01785	.	.	ENSG00000175899	ENST00000543436	.	.	.	5.28	-4.8	0.03190	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.47094	D	0.99931	.	.	.	.	.	.	T	0.32107	-0.9919	4	.	.	.	.	3.2875	0.06937	0.1842:0.4367:0.2049:0.1742	.	.	.	.	Y	62	.	.	S	-	2	0	A2M	9135091	0.814000	0.29104	0.001000	0.08648	0.047000	0.14425	-0.028000	0.12350	-1.604000	0.01595	-0.471000	0.05019	TCC		TCGA-IB-7651-01A-11D-2154-08	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	0	0	0	13	389	0	85	0	1	1	2872	0	85	2		0	0	0	0	0	2	1	9.994871e-01	13	381	0	85	2								-3.221883	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.370000	0.200000	0.590000	0.360000	0.387864	0.370000	0	2.800000e-01	4.800000e-01
A2M	2	broad.mit.edu	37	12	9252027	9252027	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9252027C>T	ENST00000318602.7	-	14	1958	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin			77				Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCCCCAATCACGTCCCCGGTA	0.428000																								0							SO:0001583	missense			ENST00000318602.7	0	1	hg19	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633547	0.29068	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.66280	-0.2	5.27	2.42	0.29668	Alpha-2-macroglobulin, N-terminal 2 (1);	0.194485	0.35378	N	0.003256	T	0.56001	0.1956	L	0.55017	1.72	0.29656	N	0.843599	D	0.60160	0.987	P	0.49953	0.627	T	0.54430	-0.8295	10	0.36615	T	0.2	.	2.0669	0.03605	0.1381:0.4841:0.1345:0.2432	.	551	P01023	A2MG_HUMAN	M	551;566	ENSP00000323929:V551M	ENSP00000323929:V551M	V	-	1	0	A2M	9143294	0.012000	0.17670	0.938000	0.37757	0.322000	0.28314	-0.124000	0.10595	0.723000	0.32274	-0.136000	0.14681	GTG		TCGA-IB-7651-01A-11D-2154-08	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	1	0	1	6	27	0	13	0	1	0	2625	0	13	2		0	0	0	0	0	2	1	9.699981e-01	6	27	0	11	2								-13.624910	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.690000	1.000000	1.000000	0.974085	0.990000	1	9.900000e-01	1
EEA1	8411	broad.mit.edu	37	12	93196191	93196191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93196191T>C	ENST00000322349.8	-	19	2923	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1			36					AAGTCTAATATAGCGGCTTTT	0.289000																								0							SO:0001583	missense			ENST00000322349.8	1	1	hg19	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	1.136	-0.650910	0.03506	.	.	ENSG00000102189	ENST00000322349	T	0.62788	0.0	5.4	-0.258	0.12975	.	0.442204	0.19156	N	0.121338	T	0.27454	0.0674	N	0.02916	-0.46	0.21020	N	0.999803	B	0.02656	0.0	B	0.04013	0.001	T	0.08994	-1.0695	10	0.29301	T	0.29	.	1.7563	0.02983	0.1541:0.3229:0.1128:0.4102	.	887	Q15075	EEA1_HUMAN	V	887	ENSP00000317955:I887V	ENSP00000317955:I887V	I	-	1	0	EEA1	91720322	0.051000	0.20477	0.993000	0.49108	0.970000	0.65996	-0.276000	0.08514	0.040000	0.15660	0.402000	0.26972	ATA		TCGA-IB-7651-01A-11D-2154-08	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	1	0	1	26	126	0	28	1	9.980384e-01	7	44	0	28	2		0	0	0	0	0	2	1	1	26	124	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
EEA1	8411	broad.mit.edu	37	12	93206839	93206839	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93206839C>A	ENST00000322349.8	-	16	2224	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1			36					GCTGCTTCTGCTGATAGTAAT	0.358000																								0							SO:0001583	missense			ENST00000322349.8	1	1	hg19	CCDS31874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.202315|5.202315	0.94997|0.94997	.|.	.|.	ENSG00000102189|ENSG00000102189	ENST00000322349|ENST00000549790	T|.	0.44881|.	0.91|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.47852|.	U|.	0.000202|.	T|T	0.62744|0.62744	0.2453|0.2453	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.66324|0.66324	-0.5952|-0.5952	10|6	0.09084|0.87932	T|D	0.74|0	.|.	18.4977|18.4977	0.90870|0.90870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	654|.	Q15075|.	EEA1_HUMAN|.	S|H	654|23	ENSP00000317955:A654S|.	ENSP00000317955:A654S|ENSP00000446785:Q23H	A|Q	-|-	1|3	0|2	EEA1|EEA1	91730970|91730970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.547000|7.547000	0.82146|0.82146	2.465000|2.465000	0.83290|0.83290	0.563000|0.563000	0.77884|0.77884	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	1	0	1	40	359	0	88	1	8.295242e-01	6	24	0	88	2		0	0	0	0	0	2	1	1	39	355	0	88	2								-13.507390	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.870000	1.000000	1.000000	0.990765	0.990000	1	9.900000e-01	1
EEA1	8411	broad.mit.edu	37	12	93226446	93226446	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93226446C>T	ENST00000322349.8	-	11	1360	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1			36					TCACTTAGTTCTACATGTATT	0.393000																								0							SO:0001583	missense			ENST00000322349.8	1	1	hg19	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756161	0.69648	.	.	ENSG00000102189	ENST00000322349	T	0.69685	-0.42	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000049	T	0.74921	0.3780	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.73538	-0.3951	10	0.39692	T	0.17	.	19.4513	0.94869	0.0:1.0:0.0:0.0	.	366	Q15075	EEA1_HUMAN	K	366	ENSP00000317955:E366K	ENSP00000317955:E366K	E	-	1	0	EEA1	91750577	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	6.625000	0.74248	2.577000	0.86979	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	1	0	1	98	490	0	63	1	9.904883e-01	11	27	0	63	2		0	0	0	0	0	2	1	1	98	483	0	62	2								-20.000000	1	1	121408	1	29	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PZP	5858	broad.mit.edu	37	12	9354925	9354925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9354925C>T	ENST00000261336.2	-	4	498	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein			102					CAGTTCATTTCGAGGGCGAAA	0.433000													Melanoma(125;1402 1695 4685 34487 38571)											0							SO:0001583	missense			ENST00000261336.2	1	1	hg19	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562161	0.27915	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.73152	-0.72;-0.72	2.44	-2.9	0.05648	Alpha-2-macroglobulin, N-terminal (1);	0.621973	0.12652	U	0.450358	T	0.32971	0.0847	N	0.00926	-1.1	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.09377	0.0;0.004	T	0.19844	-1.0293	10	0.51188	T	0.08	.	3.776	0.08660	0.2532:0.449:0.0:0.2979	.	26;157	P20742-2;P20742	.;PZP_HUMAN	Q	157;26	ENSP00000261336:R157Q;ENSP00000371427:R26Q	ENSP00000261336:R157Q	R	-	2	0	PZP	9246192	0.000000	0.05858	0.022000	0.16811	0.468000	0.32798	0.425000	0.21346	-0.704000	0.05042	-0.691000	0.03719	CGA		TCGA-IB-7651-01A-11D-2154-08	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	1	0	1	28	128	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	26	125	0	43	2								-20.000000	1	1	121412	1	29	1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
CRADD	8738	broad.mit.edu	37	12	94072579	94072579	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072579G>A	ENST00000542893.2	+	2	347	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CRADD_ENST00000548483.1_Missense_Mutation_p.R10H|CRADD_ENST00000552983.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H|CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000541813.1_Missense_Mutation_p.R10H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain			8					CAAGTACTCCGCTCACTTCGC	0.483000																								0							SO:0001583	missense			ENST00000542893.2	1	1	hg19	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963985	0.92791	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.58177	-0.7682	10	0.72032	D	0.01	-7.4989	18.7029	0.91627	0.0:0.0:1.0:0.0	.	10;10	F5H7C2;P78560	.;CRADD_HUMAN	H	10	ENSP00000449570:R10H;ENSP00000327647:R10H;ENSP00000449664:R10H;ENSP00000448685:R10H;ENSP00000439068:R10H;ENSP00000442624:R10H	ENSP00000327647:R10H	R	+	2	0	CRADD	92596710	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	8.787000	0.91830	2.403000	0.81681	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	1	0	1	50	189	0	52	1	9.999334e-01	20	38	0	52	2		0	0	0	0	0	2	1	1	48	182	0	52	2								-3.488324	1	0	121412	2	35	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRADD	8738	broad.mit.edu	37	12	94072626	94072626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072626G>A	ENST00000542893.2	+	2	394	c.76G>A	c.(76-78)Gtt>Att	p.V26I	CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000552983.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I|CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000541813.1_Missense_Mutation_p.V26I			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain			8					GGAGGGACTGGTTCTTCAGTA	0.498000																								0							SO:0001583	missense			ENST00000542893.2	1	1	hg19	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355886	0.61293	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.054062	0.64402	D	0.000001	T	0.32102	0.0818	N	0.11724	0.165	0.45005	D	0.998029	D;B	0.67145	0.996;0.051	D;B	0.76071	0.987;0.233	T	0.15009	-1.0452	10	0.13853	T	0.58	-25.1462	18.7029	0.91627	0.0:0.0:1.0:0.0	.	26;26	F5H7C2;P78560	.;CRADD_HUMAN	I	26	ENSP00000449570:V26I;ENSP00000327647:V26I;ENSP00000449664:V26I;ENSP00000448685:V26I;ENSP00000439068:V26I;ENSP00000442624:V26I	ENSP00000327647:V26I	V	+	1	0	CRADD	92596757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.801000	0.55545	2.403000	0.81681	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	1	0	1	59	238	0	65	1	9.999944e-01	16	59	0	65	2		0	0	0	0	0	2	1	1	59	228	0	65	2								-20.000000	1	0	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC41	0	broad.mit.edu	37	12	94725559	94725559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94725559G>T	ENST00000397809.5	-	14	2173	c.1624C>A	c.(1624-1626)Ctt>Att	p.L542I	CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I|CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN				27					CGCTCATGAAGCTTATGCTTT	0.378000																								0							SO:0001583	missense			ENST00000397809.5	1	1	hg19	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177979	0.38413	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809;ENST00000397807	T;T;T;T	0.62105	1.98;1.98;1.98;0.05	5.79	3.96	0.45880	.	.	.	.	.	T	0.47746	0.1462	L	0.42245	1.32	0.32867	D	0.508704	B;B	0.31193	0.312;0.141	B;B	0.29524	0.103;0.028	T	0.51284	-0.8725	9	0.10902	T	0.67	-6.9572	8.4164	0.32674	0.2343:0.0:0.7657:0.0	.	509;534	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	I	6;542;542;509	ENSP00000447094:L6I;ENSP00000344655:L542I;ENSP00000380911:L542I;ENSP00000380909:L509I	ENSP00000344655:L542I	L	-	1	0	CCDC41	93249690	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.990000	0.40717	1.459000	0.47892	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3	1	0	1	146	585	0	109	1	9.955165e-01	11	24	0	109	2		0	0	0	0	0	2	1	1	140	567	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMCC3	57458	broad.mit.edu	37	12	94976014	94976014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976014C>T	ENST00000261226.4	-	2	510	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3			29					TGCAGCTGGGCGATGGAGTGA	0.483000																								0							SO:0001583	missense			ENST00000261226.4	1	1	hg19	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058467	0.76074	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.55413	0.78;0.78;0.52	5.74	4.83	0.62350	.	0.137360	0.64402	D	0.000003	T	0.49660	0.1570	M	0.76574	2.34	0.58432	D	0.999996	P	0.48089	0.905	B	0.37601	0.254	T	0.54860	-0.8230	10	0.37606	T	0.19	-18.7566	12.5217	0.56062	0.1326:0.7399:0.1275:0.0	.	127	Q9ULS5	TMCC3_HUMAN	T	127;96;96	ENSP00000261226:A127T;ENSP00000449888:A96T;ENSP00000450078:A96T	ENSP00000261226:A127T	A	-	1	0	TMCC3	93500145	0.998000	0.40836	0.794000	0.32065	0.973000	0.67179	3.773000	0.55333	1.528000	0.49103	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	1	0	1	80	338	0	75	1	9.993160e-01	18	30	0	75	2		0	0	0	0	0	2	1	1	78	334	0	74	2								-3.261026	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMCC3	57458	broad.mit.edu	37	12	94976125	94976125	+	Missense_Mutation	SNP	C	C	T	rs141857063	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976125C>T	ENST00000261226.4	-	2	399	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	p.D90Y(1)		29					ACATTCCCATCGCGCGATGTT	0.453000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000261226.4	1	1	hg19	CCDS31877.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	27.0	4.793782	0.90453	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.60171	0.21;0.21;0.21	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.82823	2.61	0.80722	D	1	D	0.69078	0.997	P	0.60541	0.876	T	0.76035	-0.3106	10	0.52906	T	0.07	-25.4124	20.0555	0.97650	0.0:1.0:0.0:0.0	.	90	Q9ULS5	TMCC3_HUMAN	N	90;59;59	ENSP00000261226:D90N;ENSP00000449888:D59N;ENSP00000450078:D59N	ENSP00000261226:D90N	D	-	1	0	TMCC3	93500256	1.000000	0.71417	0.915000	0.36163	0.932000	0.56968	5.900000	0.69853	2.821000	0.97095	0.485000	0.47835	GAT		TCGA-IB-7651-01A-11D-2154-08	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	1	0	1	144	658	0	142	0	9.787789e-01	0	30	0	142	2		0	0	0	0	0	2	1	1	142	640	0	142	2								-4.083750	1	1	121412	289	56	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR2C1	7181	broad.mit.edu	37	12	95416132	95416132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95416132G>T	ENST00000333003.5	-	14	2015	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1			13					AGTGATGGTAGCATTCATCAG	0.358000																								0							SO:0001583	missense			ENST00000333003.5	1	1	hg19	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988099	0.53934	.	.	ENSG00000120798	ENST00000333003	D	0.96651	-4.08	5.74	4.85	0.62838	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.145103	0.64402	D	0.000008	D	0.97810	0.9281	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97793	1.0239	10	0.44086	T	0.13	.	14.9741	0.71257	0.0686:0.0:0.9314:0.0	.	562	P13056	NR2C1_HUMAN	D	562	ENSP00000333275:A562D	ENSP00000333275:A562D	A	-	2	0	NR2C1	93940263	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.869000	0.99810	1.443000	0.47586	-0.156000	0.13503	GCT		TCGA-IB-7651-01A-11D-2154-08	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	1	0	1	172	852	0	217	1	9.981913e-01	17	30	0	217	2		0	0	0	0	0	2	1	1	169	828	0	216	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR2C1	7181	broad.mit.edu	37	12	95422177	95422177	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422177A>G	ENST00000333003.5	-	12	1847	c.1517T>C	c.(1516-1518)gTa>gCa	p.V506A	NR2C1_ENST00000545833.1_5'Flank	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1			13					ACTGAAGAGTACTATTGCCTT	0.358000																								0							SO:0001583	missense			ENST00000333003.5	1	1	hg19	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297574	0.60086	.	.	ENSG00000120798	ENST00000333003	D	0.96716	-4.1	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055467	0.64402	D	0.000001	D	0.93112	0.7807	L	0.43554	1.36	0.80722	D	1	B	0.17465	0.022	B	0.18263	0.021	D	0.89908	0.4049	10	0.46703	T	0.11	.	9.6208	0.39721	0.9215:0.0:0.0785:0.0	.	506	P13056	NR2C1_HUMAN	A	506	ENSP00000333275:V506A	ENSP00000333275:V506A	V	-	2	0	NR2C1	93946308	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.574000	0.82434	1.960000	0.56953	0.460000	0.39030	GTA		TCGA-IB-7651-01A-11D-2154-08	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	1	0	1	32	149	0	42	1	9.978052e-01	14	34	0	42	2		0	0	0	0	0	2	1	1	32	147	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NR2C1	7181	broad.mit.edu	37	12	95422292	95422292	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422292A>T	ENST00000333003.5	-	12	1732	c.1402T>A	c.(1402-1404)Tca>Aca	p.S468T	NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1			13					CTTTCTGTTGACATTTTATCT	0.303000																								0							SO:0001583	missense			ENST00000333003.5	1	1	hg19	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690083	0.48097	.	.	ENSG00000120798	ENST00000333003	D	0.96830	-4.14	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.057030	0.64402	D	0.000001	D	0.93621	0.7963	L	0.45581	1.43	0.80722	D	1	P	0.43938	0.822	B	0.42738	0.396	D	0.91549	0.5255	10	0.24483	T	0.36	.	10.1495	0.42784	0.9153:0.0:0.0847:0.0	.	468	P13056	NR2C1_HUMAN	T	468	ENSP00000333275:S468T	ENSP00000333275:S468T	S	-	1	0	NR2C1	93946423	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.432000	0.59922	2.024000	0.59613	0.460000	0.39030	TCA		TCGA-IB-7651-01A-11D-2154-08	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	1	0	1	33	200	0	53	1	9.890515e-01	20	25	0	53	2		0	0	0	0	0	2	1	1	32	201	0	53	2								-16.669900	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
NR2C1	7181	broad.mit.edu	37	12	95453692	95453692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95453692G>A	ENST00000333003.5	-	4	684	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Silent_p.D118D	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1			13					CTGATGCTTTGTCTCCACATA	0.313000																								0							SO:0001819	synonymous_variant			ENST00000333003.5	1	1	hg19	CCDS9051.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	1	0	1	26	162	0	31	1	9.937976e-01	17	36	0	31	2		0	0	0	0	0	2	1	9.999999e-01	25	149	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999543	0.990000	1	9.900000e-01	1
FGD6	55785	broad.mit.edu	37	12	95602826	95602826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95602826G>A	ENST00000343958.4	-	2	2457	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V	FGD6_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.A745V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6			56					ATACTCCGGTGCACAGAGGCT	0.453000																								0							SO:0001583	missense			ENST00000343958.4	1	1	hg19	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485944	0.26686	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68903	-0.25;-0.36;-0.28	5.77	1.59	0.23543	.	0.284335	0.25296	N	0.031683	T	0.42562	0.1208	N	0.25647	0.755	0.09310	N	0.999995	B	0.15930	0.015	B	0.11329	0.006	T	0.11690	-1.0577	10	0.12103	T	0.63	-1.6594	2.7736	0.05341	0.2026:0.2271:0.459:0.1112	.	745	Q6ZV73	FGD6_HUMAN	V	745	ENSP00000344446:A745V;ENSP00000450342:A745V;ENSP00000449005:A745V	ENSP00000344446:A745V	A	-	2	0	FGD6	94126957	0.000000	0.05858	0.229000	0.23960	0.981000	0.71138	-0.042000	0.12063	0.308000	0.22923	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	1	0	1	43	424	0	64	1	9.537958e-01	11	41	0	64	2		0	0	0	0	0	2	1	1	43	420	0	63	2								-13.626520	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.800000	1.000000	1.000000	0.977900	0.990000	1	9.400000e-01	1
USP44	84101	broad.mit.edu	37	12	95922698	95922698	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95922698A>C	ENST00000258499.3	-	3	1797	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000393091.2_Nonsense_Mutation_p.Y503*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44			36					CACTGCATTGATACCTTTCTG	0.378000																								0							SO:0001587	stop_gained			ENST00000258499.3	0	1	hg19	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	41	8.936076	0.99008	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	.	.	.	5.94	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1397	0.36897	0.3593:0.0:0.6407:0.0	.	.	.	.	X	503	.	ENSP00000258499:Y503X	Y	-	3	2	USP44	94446829	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.363000	0.34159	0.272000	0.22027	-0.366000	0.07423	TAT		TCGA-IB-7651-01A-11D-2154-08	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	1	0	0	53	224	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	1	53	219	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTN4	59277	broad.mit.edu	37	12	96131853	96131853	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96131853G>T	ENST00000343702.4	-	3	1103	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.L219M|NTN4_ENST00000344911.4_Missense_Mutation_p.L182M|NTN4_ENST00000538383.1_Missense_Mutation_p.L182M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4			25					GTGATCTTCAGCTGCTCCTGA	0.448000																								0							SO:0001583	missense			ENST00000343702.4	1	1	hg19	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409995	0.62399	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.51	1.62	0.23740	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000004	D	0.85588	0.5731	M	0.79123	2.44	0.46725	D	0.999179	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.961	D	0.83708	0.0186	10	0.46703	T	0.11	.	10.7464	0.46183	0.3041:0.0:0.6959:0.0	.	219;219	Q9HB63-2;Q9HB63	.;NET4_HUMAN	M	219;182;182;219	ENSP00000340998:L219M;ENSP00000339436:L182M;ENSP00000444432:L182M;ENSP00000447292:L219M	ENSP00000340998:L219M	L	-	1	2	NTN4	94655984	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.401000	0.44513	0.298000	0.22638	-0.228000	0.12330	CTG		TCGA-IB-7651-01A-11D-2154-08	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	0	0	0	26	595	0	92	1	9.851239e-01	7	147	0	92	2		0	0	0	0	0	2	1	9.999999e-01	26	574	0	92	2								-4.383029	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.500000	0.330000	1.000000	0.490000	0.541018	0.500000	0	4.100000e-01	6.300000e-01
HAL	3034	broad.mit.edu	37	12	96386496	96386496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96386496G>A	ENST00000261208.3	-	9	1045	c.677C>T	c.(676-678)tCc>tTc	p.S226F	HAL_ENST00000551562.1_5'Flank|HAL_ENST00000541929.1_Missense_Mutation_p.S18F|HAL_ENST00000538703.1_Missense_Mutation_p.S226F	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase			34				L-Histidine(DB00117)	GGTCTCCAGGGAAATGCCACT	0.468000													NSCLC(169;943 2815 23563 30031)											0							SO:0001583	missense			ENST00000261208.3	1	1	hg19	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637203	0.87760	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.79	4.79	0.61399	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.93769	0.7073	10	0.87932	D	0	-14.7048	17.8357	0.88696	0.0:0.0:1.0:0.0	.	226;226	F5GXF2;P42357	.;HUTH_HUMAN	F	226;18;226;214;136	ENSP00000261208:S226F;ENSP00000446364:S18F;ENSP00000440861:S226F;ENSP00000450372:S214F;ENSP00000447543:S136F	ENSP00000261208:S226F	S	-	2	0	HAL	94910627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.357000	0.97099	2.198000	0.70561	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1	1	0	1	122	464	0	125	0	0	0	1	0	125	2		0	0	0	0	0	2	1	1	120	450	0	125	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LTA4H	4048	broad.mit.edu	37	12	96412579	96412579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412579C>A	ENST00000228740.2	-	8	955	c.814G>T	c.(814-816)Gag>Tag	p.E272*	LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*|LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase			12				Captopril(DB01197)	CAAGGATTCTCCATGCCACCA	0.398000																								0							SO:0001587	stop_gained			ENST00000228740.2	0	1	hg19	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	39	7.296889	0.98192	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	.	.	.	5.15	5.15	0.70609	.	0.044140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.386	18.9881	0.92780	0.0:1.0:0.0:0.0	.	.	.	.	X	272;248;248	.	ENSP00000228740:E272X	E	-	1	0	LTA4H	94936710	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.743000	0.85020	2.577000	0.86979	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	1	0	1	46	155	0	48	1	1	6	284	0	48	2		0	0	0	0	0	2	1	1	44	155	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LTA4H	4048	broad.mit.edu	37	12	96412999	96412999	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412999A>G	ENST00000228740.2	-	7	799	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	LTA4H_ENST00000552789.1_Silent_p.L196L|LTA4H_ENST00000413268.2_Silent_p.L196L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase			12				Captopril(DB01197)	GACCACACCAAAGTTCTTGGG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000228740.2	1	1	hg19	CCDS9059.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	1	0	1	75	316	0	68	1	1	84	222	0	68	2		0	0	0	0	0	2	1	1	73	312	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELK3	2004	broad.mit.edu	37	12	96641197	96641197	+	Silent	SNP	C	C	T	rs142048091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96641197C>T	ENST00000228741.3	+	3	1013	c.687C>T	c.(685-687)aaC>aaT	p.N229N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)			20	all_cancers(2;0.00173)				TGTTGCCAAACGCTGCCAGTA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000228741.3	1	1	hg19	CCDS9060.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	1	0	1	130	688	0	109	1	1	15	142	0	109	2		0	0	0	0	0	2	1	1	128	674	0	107	2								-20.000000	1	1	121410	2	42	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WNK1	65125	broad.mit.edu	37	12	987393	987393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:987393C>T	ENST00000315939.6	+	10	2882	c.2239C>T	c.(2239-2241)Cag>Tag	p.Q747*	WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.Q1160*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1			104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		GGGAATACAGCAGACAGCCCC	0.438000													Colon(19;451 567 6672 12618 28860)											0							SO:0001587	stop_gained			ENST00000315939.6	0	1	hg19	CCDS8506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.339887|12.339887	0.99658|0.99658	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000544965;ENST00000545285|ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000535698	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.191642	.|0.37095	.|N	.|0.002245	T|.	0.66713|.	0.2817|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57353|.	-0.7826|.	3|.	.|0.16896	.|T	.|0.51	-1.1582|-1.1582	18.6582|18.6582	0.91462|0.91462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	69;66|746;747;1160;166;1245;340;17	.|.	.|ENSP00000252477:Q166X	A|Q	+|+	2|1	0|0	WNK1|WNK1	857654|857654	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.996000|0.996000	0.88848|0.88848	4.571000|4.571000	0.60879|0.60879	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	1	0	0	56	385	0	98	1	9.999999e-01	3	158	0	98	2		0	0	0	0	0	2	1	1	53	374	0	96	2								-19.998560	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999831	0.990000	1	9.900000e-01	1
CLECL1	160365	broad.mit.edu	37	12	9875328	9875328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9875328G>T	ENST00000327839.3	-	2	432	c.398C>A	c.(397-399)gCt>gAt	p.A133D		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1			9					CTTAGTTTCAGCAATCCAGTA	0.358000																								0							SO:0001583	missense			ENST00000327839.3	0	1	hg19	CCDS8603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.610957|2.610957	0.46631|0.46631	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000327839|ENST00000542530	T|.	0.17213|.	2.29|.	3.15|3.15	2.24|2.24	0.28232|0.28232	C-type lectin fold (1);C-type lectin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	D|.	0.67145|.	0.996|.	P|.	0.61592|.	0.891|.	T|T	0.29366|0.29366	-1.0014|-1.0014	8|5	.|.	.|.	.|.	.|.	6.5714|6.5714	0.22541|0.22541	0.1469:0.0:0.8531:0.0|0.1469:0.0:0.8531:0.0	.|.	133|.	Q8IZS7|.	CLCL1_HUMAN|.	D|M	133|85	ENSP00000331766:A133D|.	.|.	A|L	-|-	2|1	0|2	CLECL1|CLECL1	9766595|9766595	0.002000|0.002000	0.14202|0.14202	0.008000|0.008000	0.14137|0.14137	0.240000|0.240000	0.25518|0.25518	0.847000|0.847000	0.27696|0.27696	0.608000|0.608000	0.30000|0.30000	0.596000|0.596000	0.82720|0.82720	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	0	0	0	8	307	0	66	0	1.221145e-02	0	6	0	66	2		0	0	0	0	0	2	1	9.891893e-01	8	304	0	66	2								-8.541604	1	1	0	0		1	0	0	0	1.930325	0	0.170000	2.060000	1.407867e-01	0.290000	0.140000	0.530000	0.280000	0.316429	0.290000	0	2.000000e-01	4.100000e-01
TMPO	7112	broad.mit.edu	37	12	98941365	98941365	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98941365G>T	ENST00000556029.1	+	9	1450	c.1094G>T	c.(1093-1095)aGa>aTa	p.R365I	TMPO_ENST00000343315.5_Missense_Mutation_p.R325I|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Missense_Mutation_p.R256I	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin			16					AGTTGCCGCAGACCAATCAAA	0.408000																								0							SO:0001583	missense			ENST00000556029.1	1	1	hg19	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160451	0.78226	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	T;T;T;T	0.81247	-0.46;-0.54;-0.79;-1.47	5.35	5.35	0.76521	.	.	.	.	.	D	0.90103	0.6908	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.991;0.994	D	0.90623	0.4561	9	0.66056	D	0.02	.	19.4355	0.94792	0.0:0.0:1.0:0.0	.	289;365	Q59G12;P42167	.;LAP2B_HUMAN	I	365;325;256;200	ENSP00000450627:R365I;ENSP00000340251:R325I;ENSP00000376773:R256I;ENSP00000451552:R200I	ENSP00000340251:R365I	R	+	2	0	TMPO	97465496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.512000	0.67030	2.668000	0.90789	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	1	0	1	57	258	0	72	1	1	39	85	0	72	2		0	0	0	0	0	2	1	1	56	251	0	70	2								-3.422733	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APAF1	317	broad.mit.edu	37	12	99053094	99053094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99053094G>A	ENST00000551964.1	+	5	1419	c.683G>A	c.(682-684)cGc>cAc	p.R228H	APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000357310.1_Missense_Mutation_p.R228H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H|APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000547045.1_Missense_Mutation_p.R228H	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1			42				Adenosine triphosphate(DB00171)	GACCGTCTCCGCATTCTGATG	0.453000																								0							SO:0001583	missense			ENST00000551964.1	1	1	hg19	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819499	0.71028	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	4.63	0.57726	NB-ARC (1);	0.049268	0.85682	D	0.000000	D	0.87075	0.6087	L	0.61218	1.895	0.80722	D	1	D;P;P;P;D	0.76494	0.974;0.474;0.803;0.938;0.999	B;B;B;B;D	0.71184	0.233;0.078;0.151;0.344;0.972	D	0.86685	0.1919	10	0.46703	T	0.11	-17.0243	14.7562	0.69567	0.0704:0.0:0.9296:0.0	.	228;228;217;228;217	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	H	228;217;228;228;228;228;217;228;228	ENSP00000448165:R228H;ENSP00000353059:R217H;ENSP00000349862:R228H;ENSP00000341830:R228H;ENSP00000334558:R228H;ENSP00000448826:R228H;ENSP00000448449:R217H;ENSP00000449791:R228H;ENSP00000448161:R228H	ENSP00000334558:R228H	R	+	2	0	APAF1	97577225	1.000000	0.71417	0.974000	0.42286	0.160000	0.22226	6.819000	0.75262	2.610000	0.88304	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	0	0	1	72	341	0	76	1	8.661686e-01	6	13	0	76	2		0	0	0	0	0	2	1	1	72	338	0	75	2								-3.122182	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APAF1	317	broad.mit.edu	37	12	99059345	99059345	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99059345G>A	ENST00000551964.1	+	8	1706	c.970G>A	c.(970-972)Gta>Ata	p.V324I	APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000357310.1_Missense_Mutation_p.V324I|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000547045.1_Missense_Mutation_p.V324I	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1			42				Adenosine triphosphate(DB00171)	TCCCCTTGTAGTATCTTTAAT	0.343000																								0							SO:0001583	missense			ENST00000551964.1	1	1	hg19	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567535	0.45694	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.96	4.07	0.47477	NB-ARC (1);	0.180815	0.47852	N	0.000204	T	0.59500	0.2198	N	0.04508	-0.205	0.80722	D	1	B;B;B;P	0.51537	0.008;0.001;0.016;0.946	B;B;B;P	0.48795	0.123;0.031;0.038;0.59	T	0.56294	-0.8003	10	0.10636	T	0.68	-22.9329	10.1916	0.43030	0.1753:0.0:0.8247:0.0	.	324;313;324;313	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	I	324;313;324;324;313;324;324	ENSP00000448165:V324I;ENSP00000353059:V313I;ENSP00000349862:V324I;ENSP00000341830:V324I;ENSP00000448449:V313I;ENSP00000449791:V324I;ENSP00000448161:V324I	ENSP00000341830:V324I	V	+	1	0	APAF1	97583476	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.475000	0.60210	1.088000	0.41272	0.650000	0.86243	GTA		TCGA-IB-7651-01A-11D-2154-08	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	1	0	1	135	587	0	129	1	9.225790e-01	5	16	0	129	2		0	0	0	0	0	2	1	1	133	572	0	130	2								-20.000000	1	1	121402	1	39	1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APAF1	317	broad.mit.edu	37	12	99074166	99074166	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99074166G>A	ENST00000551964.1	+	14	2768	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000357310.1_Missense_Mutation_p.D678N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000547045.1_Missense_Mutation_p.D678N	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1			42				Adenosine triphosphate(DB00171)	CTGCTCAGTGGATAAAAAAGT	0.363000																								0							SO:0001583	missense			ENST00000551964.1	1	1	hg19	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248336	0.95305	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.045251	0.85682	D	0.000000	D	0.95433	0.8517	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.996	D	0.95804	0.8835	10	0.87932	D	0	-8.12	19.3764	0.94512	0.0:0.0:1.0:0.0	.	678;678;667;678;667	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	678;667;678;678;667;678;678	ENSP00000448165:D678N;ENSP00000353059:D667N;ENSP00000349862:D678N;ENSP00000341830:D678N;ENSP00000448449:D667N;ENSP00000449791:D678N;ENSP00000448161:D678N	ENSP00000341830:D678N	D	+	1	0	APAF1	97598297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.410000	0.97335	2.582000	0.87167	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	1	0	1	27	124	0	45	1	9.650036e-01	7	21	0	45	2		0	0	0	0	0	2	1	1	27	123	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
ANKS1B	56899	broad.mit.edu	37	12	99548174	99548174	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99548174C>A	ENST00000547776.2	-	15	2419		c.e15-1		ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000550693.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549025.2_Splice_Site	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B			70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)			CATCTGGGTCCTGTAAGAGGA	0.532000																								0							SO:0001630	splice_region_variant			ENST00000547776.2	0	1	hg19	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.761311|2.761311	0.49468|0.49468	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000547446;ENST00000550778|ENST00000549558;ENST00000550693;ENST00000549493;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.6025|18.6025	0.91253|0.91253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|.	.|G	-|-	.|1	.|0	ANKS1B|ANKS1B	98072305|98072305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.450000|5.450000	0.66626|0.66626	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	.|GGA		TCGA-IB-7651-01A-11D-2154-08	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	1	0	1	55	200	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	55	194	0	49	2								-3.526174	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKS1B	56899	broad.mit.edu	37	12	99837462	99837462	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99837462T>C	ENST00000547776.2	-	11	1563	c.1564A>G	c.(1564-1566)Att>Gtt	p.I522V	ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V|ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B			70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)			TGGGGTCGAATGACTTTTACA	0.423000																								0							SO:0001583	missense			ENST00000547776.2	1	1	hg19	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430242	0.62844	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61627	0.87;0.09;0.87;0.72	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56968	0.978;0.948;0.803	D;D;P	0.70227	0.968;0.949;0.847	T	0.65372	-0.6184	9	.	.	.	-11.2955	15.1596	0.72771	0.0:0.0:0.0:1.0	.	488;102;522	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	V	522;102;522;101;488	ENSP00000449629:I522V;ENSP00000448512:I102V;ENSP00000331381:I522V;ENSP00000449894:I488V	.	I	-	1	0	ANKS1B	98361593	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.759000	0.74934	2.317000	0.78254	0.460000	0.39030	ATT		TCGA-IB-7651-01A-11D-2154-08	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	1	0	1	38	240	0	58	0	1.982715e-02	0	2	0	58	2		0	0	0	0	0	2	1	1	37	239	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.002308	0	0.170000	2.060000	1.756059e-01	0.990000	0.990000	1.000000	1.000000	0.999913	0.990000	1	9.900000e-01	1
TM9SF2	9375	broad.mit.edu	37	13	100193890	100193890	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100193890A>C	ENST00000376387.4	+	9	1176	c.986A>C	c.(985-987)gAt>gCt	p.D329A		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2			17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)				CTGCACAAAGATATTGCTAGA	0.353000																								0							SO:0001583	missense			ENST00000376387.4	1	1	hg19	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828309	0.90955	.	.	ENSG00000125304	ENST00000376387	T	0.61742	0.08	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91589	0.5285	10	0.87932	D	0	-36.901	15.1335	0.72545	1.0:0.0:0.0:0.0	.	295;329	E9PHW5;Q99805	.;TM9S2_HUMAN	A	329	ENSP00000365567:D329A	ENSP00000365567:D329A	D	+	2	0	TM9SF2	98991891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.215000	0.95146	1.965000	0.57142	0.477000	0.44152	GAT		TCGA-IB-7651-01A-11D-2154-08	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3	1	0	1	116	426	0	107	1	1	202	618	0	107	2		0	0	0	0	0	2	1	1	112	421	0	106	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC5	85416	broad.mit.edu	37	13	100617847	100617847	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100617847C>A	ENST00000267294.4	-	2	2009	c.1776G>T	c.(1774-1776)ggG>ggT	p.G592G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5			9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				CCACTGGAGTCCCCACTGATG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000267294.4	1	1	hg19	CCDS9494.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	1	0	1	104	541	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1	102	526	0	122	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC2	7546	broad.mit.edu	37	13	100635292	100635292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100635292G>A	ENST00000376335.3	+	1	1267	c.974G>A	c.(973-975)cGc>cAc	p.R325H		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2			13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				AACCACATCCGCGTGCACACA	0.617000													Pancreas(97;119 1522 31925 44771 48764)											0							SO:0001583	missense			ENST00000376335.3	0	1	hg19	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998919	0.93227	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.96104	-3.91	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061993	0.64402	D	0.000006	D	0.96691	0.8920	L	0.53671	1.685	0.80722	D	1	D	0.65815	0.995	D	0.63488	0.915	D	0.97228	0.9882	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	325	O95409	ZIC2_HUMAN	H	325;74	ENSP00000365514:R325H	ENSP00000365514:R325H	R	+	2	0	ZIC2	99433293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.610000	0.88304	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	0	0	0	17	676	0	134	0	5.125770e-02	1	13	0	134	2		0	0	0	0	0	2	1	9.999604e-01	17	666	0	134	2								-2.995704	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.270000	0.160000	0.420000	0.270000	0.287358	0.270000	0	2.100000e-01	3.500000e-01
ZIC2	7546	broad.mit.edu	37	13	100637299	100637299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637299C>A	ENST00000376335.3	+	2	1468	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2			13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				TCCGATAAGCCCTATCTCTGC	0.632000													Pancreas(97;119 1522 31925 44771 48764)											0							SO:0001583	missense			ENST00000376335.3	1	1	hg19	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896693	0.91962	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.17528	2.27	4.09	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54227	-0.8325	10	0.87932	D	0	.	15.5713	0.76341	0.0:1.0:0.0:0.0	.	392	O95409	ZIC2_HUMAN	H	392;141	ENSP00000365514:P392H	ENSP00000365514:P392H	P	+	2	0	ZIC2	99435300	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.553000	0.82203	2.241000	0.73720	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	1	0	1	69	458	0	108	1	4.828765e-01	3	9	0	108	2		0	0	0	0	0	2	1	1	69	453	0	107	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999938	0.990000	1	9.900000e-01	1
ZIC2	7546	broad.mit.edu	37	13	100637318	100637318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637318C>T	ENST00000376335.3	+	2	1487	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2			13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				GCAAGATGTGCGACAAGTCCT	0.647000													Pancreas(97;119 1522 31925 44771 48764)											0							SO:0001819	synonymous_variant			ENST00000376335.3	1	1	hg19	CCDS9495.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	1	0	1	112	393	0	112	1	7.811720e-01	7	5	0	112	2		0	0	0	0	0	2	1	1	111	390	0	112	2								-4.294926	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMTC4	84899	broad.mit.edu	37	13	101257327	101257327	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101257327T>C	ENST00000376234.3	-	18	2336	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	TMTC4_ENST00000328767.5_Missense_Mutation_p.D605G|TMTC4_ENST00000342624.5_Missense_Mutation_p.D735G	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4			34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				TGCCGTGGGGTCAAGCTGCAA	0.433000																								0							SO:0001583	missense			ENST00000376234.3	1	1	hg19	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661990	0.88251	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.65178	-0.14;-0.14;-0.14	6.15	6.15	0.99193	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.86740	2.835	0.80722	D	1	D;D;D	0.65815	0.994;0.977;0.995	D;D;D	0.71184	0.936;0.948;0.972	D	0.83781	0.0225	10	0.52906	T	0.07	.	16.7886	0.85580	0.0:0.0:0.0:1.0	.	605;716;735	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	G	716;735;605	ENSP00000365408:D716G;ENSP00000343871:D735G;ENSP00000365409:D605G	ENSP00000365409:D605G	D	-	2	0	TMTC4	100055328	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.690000	0.84178	2.363000	0.80096	0.523000	0.50628	GAC		TCGA-IB-7651-01A-11D-2154-08	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	1	0	1	106	629	0	136	1	9.990336e-01	6	56	0	136	2		0	0	0	0	0	2	1	1	104	618	0	136	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMTC4	84899	broad.mit.edu	37	13	101287360	101287360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101287360C>T	ENST00000376234.3	-	10	1424	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.R301H|TMTC4_ENST00000342624.5_Missense_Mutation_p.R431H	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4			34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				GTAGAGGACACGCTCTGCGAC	0.527000																								0							SO:0001583	missense			ENST00000376234.3	1	1	hg19	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789938	0.90367	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.69685	-0.42;-0.42;-0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.997;0.997	D	0.91246	0.5025	10	0.87932	D	0	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	301;412;412;431	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	H	412;431;301	ENSP00000365408:R412H;ENSP00000343871:R431H;ENSP00000365409:R301H	ENSP00000365409:R301H	R	-	2	0	TMTC4	100085361	1.000000	0.71417	0.955000	0.39395	0.438000	0.31896	7.693000	0.84214	2.584000	0.87258	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	1	0	1	24	171	0	36	1	9.740240e-01	12	33	0	36	2		0	0	0	0	0	2	1	9.999998e-01	23	169	0	36	2								-12.133740	1	1	121412	3	31	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.870000	1.000000	1.000000	0.991682	0.990000	1	9.900000e-01	1
TMTC4	84899	broad.mit.edu	37	13	101288908	101288908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101288908C>T	ENST00000376234.3	-	9	1212	c.1023G>A	c.(1021-1023)atG>atA	p.M341I	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.M230I|TMTC4_ENST00000342624.5_Missense_Mutation_p.M360I	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4			34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				GGATGCAGCCCATTGACCAAT	0.502000																								0							SO:0001583	missense			ENST00000376234.3	1	1	hg19	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229546	0.95173	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.53640	0.61;0.61;0.61	6.17	6.17	0.99709	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.91140	3.18	0.80722	D	1	P;D;D;P	0.63046	0.94;0.992;0.977;0.929	P;D;P;P	0.64144	0.897;0.922;0.893;0.614	T	0.79509	-0.1774	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	230;341;341;360	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	I	341;360;230	ENSP00000365408:M341I;ENSP00000343871:M360I;ENSP00000365409:M230I	ENSP00000365409:M230I	M	-	3	0	TMTC4	100086909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	0	0	0	14	473	0	108	0	1.802565e-01	0	25	0	108	2		0	0	0	0	0	2	1	9.997189e-01	14	462	0	106	2								-2.599740	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.320000	0.180000	0.510000	0.320000	0.338926	0.320000	0	2.400000e-01	4.200000e-01
NALCN	259232	broad.mit.edu	37	13	101710303	101710303	+	Missense_Mutation	SNP	G	G	A	rs143587652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101710303G>A	ENST00000251127.6	-	43	5092	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective			177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				GAGGGCAGACGCCACTGCCCA	0.542000																								0							SO:0001583	missense			ENST00000251127.6	1	1	hg19	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587370	0.66105	0.0	1.16E-4	ENSG00000102452	ENST00000251127	D	0.97994	-4.65	5.29	4.45	0.53987	.	0.103999	0.64402	N	0.000003	D	0.93223	0.7841	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	B	0.44278	0.445	D	0.93482	0.6828	10	0.66056	D	0.02	.	11.949	0.52944	0.1454:0.0:0.8546:0.0	.	1671	Q8IZF0	NALCN_HUMAN	C	1671	ENSP00000251127:R1671C	ENSP00000251127:R1671C	R	-	1	0	NALCN	100508304	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	4.238000	0.58688	1.221000	0.43506	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	0	51	343	0	103	0	8.894323e-01	0	28	0	103	2		0	0	0	0	0	2	1	1	50	343	0	102	2								-3.221946	1	1	121412	1	37	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999610	0.990000	1	9.900000e-01	1
NALCN	259232	broad.mit.edu	37	13	101714357	101714357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101714357C>T	ENST00000251127.6	-	41	4799	c.4718G>A	c.(4717-4719)cGc>cAc	p.R1573H	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective			177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				GAGCCACATGCGGATGGTCTG	0.637000																								0							SO:0001583	missense			ENST00000251127.6	1	1	hg19	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441723	0.96187	.	.	ENSG00000102452	ENST00000251127	D	0.98090	-4.71	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99379	1.0922	10	0.72032	D	0.01	.	20.0931	0.97828	0.0:1.0:0.0:0.0	.	1573	Q8IZF0	NALCN_HUMAN	H	1573	ENSP00000251127:R1573H	ENSP00000251127:R1573H	R	-	2	0	NALCN	100512358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.759000	0.94783	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	1	60	302	0	57	0	9.489653e-01	0	27	0	57	2		0	0	0	0	0	2	1	1	57	298	0	56	2								-3.245861	1	1	121412	1	27	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NALCN	259232	broad.mit.edu	37	13	101735213	101735213	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101735213T>C	ENST00000251127.6	-	33	3793	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective			177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				AAAGGTACGGTCACCGGGTCC	0.522000																								0							SO:0001583	missense			ENST00000251127.6	1	1	hg19	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625989	0.46840	.	.	ENSG00000102452	ENST00000251127	D	0.97430	-4.38	5.64	5.64	0.86602	.	0.048760	0.85682	D	0.000000	D	0.95818	0.8639	L	0.57536	1.79	0.80722	D	1	B	0.22003	0.063	B	0.27715	0.082	D	0.93815	0.7113	10	0.41790	T	0.15	.	15.8512	0.78934	0.0:0.0:0.0:1.0	.	1238	Q8IZF0	NALCN_HUMAN	A	1238	ENSP00000251127:T1238A	ENSP00000251127:T1238A	T	-	1	0	NALCN	100533214	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.613000	0.82986	2.137000	0.66172	0.528000	0.53228	ACC		TCGA-IB-7651-01A-11D-2154-08	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	0	16	297	0	77	0	2.541047e-01	0	18	0	77	2		0	0	0	0	0	2	1	9.999206e-01	16	287	0	76	2								-18.232110	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.570000	0.340000	0.870000	0.560000	0.591310	0.570000	0	4.400000e-01	7.200000e-01
NALCN	259232	broad.mit.edu	37	13	101777028	101777028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101777028C>T	ENST00000251127.6	-	18	2204	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective			177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				AACAGACTTGCGAAGCTGAAA	0.328000																								0							SO:0001583	missense			ENST00000251127.6	1	1	hg19	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087110	0.55861	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	6.07	6.07	0.98685	.	0.048229	0.85682	D	0.000000	D	0.93864	0.8037	N	0.14661	0.345	0.80722	D	1	P	0.38420	0.63	B	0.37047	0.24	D	0.92981	0.6406	10	0.24483	T	0.36	.	17.5761	0.87949	0.0:1.0:0.0:0.0	.	708	Q8IZF0	NALCN_HUMAN	H	708	ENSP00000251127:R708H	ENSP00000251127:R708H	R	-	2	0	NALCN	100575029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.703000	0.68340	2.885000	0.99019	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	1	87	440	0	104	0	9.413097e-01	0	26	0	104	2		0	0	0	0	0	2	1	1	86	433	0	103	2								-20.000000	1	1	121412	2	37	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGF14	2259	broad.mit.edu	37	13	102568890	102568890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568890T>G	ENST00000376143.4	-	1	105	c.106A>C	c.(106-108)Aac>Cac	p.N36H	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14			29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				AGCCCGCGGTTCTTGCTGGGG	0.672000																								0							SO:0001583	missense			ENST00000376143.4	1	1	hg19	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274869	0.59649	.	.	ENSG00000102466	ENST00000376143	T	0.77358	-1.09	5.28	4.02	0.46733	.	.	.	.	.	T	0.66934	0.2840	L	0.34521	1.04	0.38969	D	0.958714	B	0.33073	0.396	B	0.32022	0.139	T	0.70245	-0.4925	9	0.48119	T	0.1	.	11.5774	0.50869	0.0:0.0:0.1492:0.8508	.	36	Q92915	FGF14_HUMAN	H	36	ENSP00000365313:N36H	ENSP00000365313:N36H	N	-	1	0	FGF14	101366891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.493000	0.60341	1.989000	0.58080	0.460000	0.39030	AAC		TCGA-IB-7651-01A-11D-2154-08	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2	1	0	0	35	184	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1	35	179	0	42	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999783	0.990000	1	9.900000e-01	1
TPP2	7174	broad.mit.edu	37	13	103249462	103249462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103249462C>A	ENST00000376065.4	+	1	110	c.74C>A	c.(73-75)tCc>tAc	p.S25Y	TPP2_ENST00000376052.3_Missense_Mutation_p.S25Y	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II			52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				GGAGCCGCCTCCTTCCTCTGC	0.682000																								0							SO:0001583	missense			ENST00000376065.4	1	1	hg19	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839087	0.71373	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.45276	0.9;0.9	5.37	4.53	0.55603	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.349320	0.30501	N	0.009485	T	0.33876	0.0878	L	0.48642	1.525	0.49299	D	0.999778	P	0.39576	0.679	B	0.35413	0.202	T	0.20174	-1.0283	10	0.66056	D	0.02	.	9.7119	0.40251	0.0:0.7857:0.1404:0.0739	.	25	P29144	TPP2_HUMAN	Y	25	ENSP00000365233:S25Y;ENSP00000365220:S25Y	ENSP00000365220:S25Y	S	+	2	0	TPP2	102047463	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.876000	0.63079	1.261000	0.44149	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2	1	0	0	28	106	0	17	1	9.937634e-01	7	27	0	17	2		0	0	0	0	0	2	1	1	27	102	0	15	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999891	0.990000	1	9.900000e-01	1
TPP2	7174	broad.mit.edu	37	13	103288009	103288009	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103288009C>A	ENST00000376065.4	+	12	1502	c.1466C>A	c.(1465-1467)gCt>gAt	p.A489D	TPP2_ENST00000376052.3_Missense_Mutation_p.A489D	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II			52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				GCAGTGAAGGCTGACAATATA	0.333000																								0							SO:0001583	missense			ENST00000376065.4	1	1	hg19	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258655	0.59321	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	D;D	0.88354	-2.37;-2.37	5.83	5.83	0.93111	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.158737	0.56097	D	0.000033	D	0.87111	0.6096	L	0.33710	1.025	0.50467	D	0.999874	P	0.49253	0.921	P	0.48952	0.596	D	0.86781	0.1979	10	0.45353	T	0.12	.	14.3065	0.66389	0.0:0.9295:0.0:0.0705	.	489	P29144	TPP2_HUMAN	D	489	ENSP00000365233:A489D;ENSP00000365220:A489D	ENSP00000365220:A489D	A	+	2	0	TPP2	102086010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.766000	0.55280	2.763000	0.94921	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2	1	0	1	70	343	0	75	1	9.999799e-01	15	64	0	75	2		0	0	0	0	0	2	1	1	69	339	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDELC1	79070	broad.mit.edu	37	13	103440220	103440220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103440220G>A	ENST00000376004.4	-	8	1683	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1			19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				ATATGTCATCGCCCATGAGAT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000376004.4	1	1	hg19	CCDS9504.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	1	0	1	63	328	0	70	1	9.991474e-01	8	49	0	70	2		0	0	0	0	0	2	1	1	61	321	0	70	2								-20.000000	1	1	121406	2	38	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
KDELC1	79070	broad.mit.edu	37	13	103441551	103441551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103441551G>A	ENST00000376004.4	-	7	1440	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1			19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				CAGTGCCATCGATATTTATTT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000376004.4	1	1	hg19	CCDS9504.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	1	0	0	49	260	0	58	1	9.997368e-01	9	59	0	58	2		0	0	0	0	0	2	1	1	48	254	0	58	2								-2.895024	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
KDELC1	79070	broad.mit.edu	37	13	103450919	103450919	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103450919T>C	ENST00000376004.4	-	1	438	c.102A>G	c.(100-102)atA>atG	p.I34M	BIVM_ENST00000419638.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000257336.1_5'Flank|BIVM_ENST00000448849.2_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1			19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				CGGGTCCCCATATTTCGCTCT	0.532000																								0							SO:0001583	missense			ENST00000376004.4	1	1	hg19	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011978	0.75046	.	.	ENSG00000134901	ENST00000376004	T	0.25250	1.81	5.32	4.14	0.48551	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.507646	0.23243	N	0.050323	T	0.28001	0.0690	L	0.36672	1.1	0.32461	N	0.544094	B	0.20780	0.048	B	0.39185	0.293	T	0.41520	-0.9504	10	0.87932	D	0	.	10.5719	0.45204	0.0:0.0763:0.0:0.9237	.	34	Q6UW63	KDEL1_HUMAN	M	34	ENSP00000365172:I34M	ENSP00000365172:I34M	I	-	3	3	KDELC1	102248920	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.226000	0.17776	2.141000	0.66446	0.528000	0.53228	ATA		TCGA-IB-7651-01A-11D-2154-08	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	1	0	1	59	245	0	46	1	9.996973e-01	3	50	0	46	2		0	0	0	0	0	2	1	1	59	242	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERCC5	2073	broad.mit.edu	37	13	103504492	103504492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103504492C>T	ENST00000355739.4	+	2	1536	c.113C>T	c.(112-114)gCa>gTa	p.A38V	BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S|ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5			51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				TTAAACCAAGCACTTAAAGGA	0.378000			Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))		E	0							SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000355739.4	1	1	hg19	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456982	0.43634	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.64618	-0.11;-0.11	5.39	5.39	0.77823	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.39147	1.195	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.999	D;D;D	0.85130	0.928;0.95;0.997	T	0.71388	-0.4608	10	0.38643	T	0.18	-22.3169	19.1376	0.93435	0.0:1.0:0.0:0.0	.	38;38;463	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	V	463;38;38	ENSP00000347978:A38V;ENSP00000442117:A38V	ENSP00000347978:A38V	A	+	2	0	ERCC5	102302493	1.000000	0.71417	0.855000	0.33649	0.934000	0.57294	7.426000	0.80270	2.514000	0.84764	0.579000	0.79373	GCA		TCGA-IB-7651-01A-11D-2154-08	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1	0	0	1	43	299	0	75	1	9.932798e-01	17	39	0	75	2		0	0	0	0	0	2	1	1	39	294	0	75	2								-18.201210	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.998803	0.990000	1	9.900000e-01	1
EFNB2	1948	broad.mit.edu	37	13	107145730	107145730	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107145730G>T	ENST00000245323.4	-	5	809	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2			13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)				CGGAACCGAGGATGTTGTTCC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000245323.4	1	1	hg19	CCDS9507.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	1	0	1	62	350	0	105	1	9.999970e-01	24	82	0	105	2		0	0	0	0	0	2	1	1	59	346	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
ARGLU1	55082	broad.mit.edu	37	13	107211878	107211878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107211878G>A	ENST00000400198.3	-	2	719	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ARGLU1_ENST00000472226.1_5'Flank|ARGLU1_ENST00000375926.1_Silent_p.S8S	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1			7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)				TCCACCCTTCGGAGAACTTCT	0.478000																								0							SO:0001587	stop_gained			ENST00000400198.3	0	1	hg19	CCDS41906.1	.	.	.	.	.	.	.	.	.	.	G	39	7.386779	0.98252	.	.	ENSG00000134884	ENST00000400198;ENST00000426600	.	.	.	5.51	4.66	0.58398	.	0.063133	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2596	16.3132	0.82904	0.0:0.1324:0.8676:0.0	.	.	.	.	X	159;109	.	ENSP00000383059:R159X	R	-	1	2	ARGLU1	106009879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	1.308000	0.44962	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	1	0	0	42	795	0	131	1	9.999645e-01	4	278	0	131	2		0	0	0	0	0	2	1	1	41	789	0	130	2								-2.364002	0	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.550000	0.400000	0.730000	0.560000	0.569611	0.550000	0	4.800000e-01	6.500000e-01
FAM155A	728215	broad.mit.edu	37	13	108518818	108518818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518818C>T	ENST00000375915.2	-	1	265	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A			33					AAGAGAGATGCCAGAGACAGT	0.562000																								0							SO:0001583	missense			ENST00000375915.2	1	1	hg19	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719839	0.89205	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.50333	1.59	0.53688	D	0.999971	D	0.76494	0.999	D	0.80764	0.994	T	0.77874	-0.2425	9	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	43	B1AL88	F155A_HUMAN	T	43	.	ENSP00000365080:A43T	A	-	1	0	FAM155A	107316819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.390000	0.81377	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	1	0	1	166	908	0	201		0	0	0	0	201	2		0	0	0	0	0	2	1	1	165	889	0	201	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIG4	3981	broad.mit.edu	37	13	108861083	108861083	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861083A>G	ENST00000356922.4	-	2	2806	c.2534T>C	c.(2533-2535)cTt>cCt	p.L845P	LIG4_ENST00000405925.1_Missense_Mutation_p.L845P|LIG4_ENST00000442234.1_Missense_Mutation_p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent			42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)				ATGAAACCGAAGCTCCAAGGC	0.403000								Non-homologous end-joining																0							SO:0001583	missense			ENST00000356922.4	1	1	hg19	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214628	0.79352	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.81499	-1.5;-1.5;-1.5	5.75	5.75	0.90469	BRCT (4);	0.193178	0.45606	D	0.000356	D	0.89136	0.6629	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90222	0.4272	10	0.72032	D	0.01	.	15.2891	0.73852	1.0:0.0:0.0:0.0	.	845	P49917	DNLI4_HUMAN	P	845	ENSP00000385955:L845P;ENSP00000402030:L845P;ENSP00000349393:L845P	ENSP00000349393:L845P	L	-	2	0	LIG4	107659084	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.652000	0.91083	2.209000	0.71365	0.462000	0.41574	CTT		TCGA-IB-7651-01A-11D-2154-08	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	0	0	0	10	367	0	69	1	3.304213e-01	3	38	0	69	2		0	0	0	0	0	2	1	9.968054e-01	10	363	0	66	2								-3.155651	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.300000	0.150000	0.510000	0.290000	0.319368	0.300000	0	2.200000e-01	4.100000e-01
LIG4	3981	broad.mit.edu	37	13	108861101	108861101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861101G>T	ENST00000356922.4	-	2	2788	c.2516C>A	c.(2515-2517)gCt>gAt	p.A839D	LIG4_ENST00000405925.1_Missense_Mutation_p.A839D|LIG4_ENST00000442234.1_Missense_Mutation_p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent			42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)				GGCTTTAATAGCTAACCTTGT	0.423000								Non-homologous end-joining																0							SO:0001583	missense			ENST00000356922.4	1	1	hg19	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011445	0.07912	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61859	0.07;0.07;0.07	5.75	4.0	0.46444	BRCT (3);	0.685891	0.14801	N	0.297615	T	0.39733	0.1089	L	0.35414	1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.27297	-1.0078	10	0.11485	T	0.65	.	5.5759	0.17222	0.075:0.1454:0.638:0.1415	.	839	P49917	DNLI4_HUMAN	D	839	ENSP00000385955:A839D;ENSP00000402030:A839D;ENSP00000349393:A839D	ENSP00000349393:A839D	A	-	2	0	LIG4	107659102	0.868000	0.29978	0.181000	0.23098	0.713000	0.41058	1.955000	0.40372	0.769000	0.33313	0.567000	0.79289	GCT		TCGA-IB-7651-01A-11D-2154-08	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	1	0	1	59	306	0	64	1	9.149282e-01	3	21	0	64	2		0	0	0	0	0	2	1	1	58	301	0	63	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
LIG4	3981	broad.mit.edu	37	13	108861894	108861894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861894T>C	ENST00000356922.4	-	2	1995	c.1723A>G	c.(1723-1725)Acc>Gcc	p.T575A	LIG4_ENST00000405925.1_Missense_Mutation_p.T575A|LIG4_ENST00000442234.1_Missense_Mutation_p.T575A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent			42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)				AAACGCAAGGTGCAGCCAGTT	0.438000								Non-homologous end-joining																0							SO:0001583	missense			ENST00000356922.4	0	1	hg19	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.549948	0.65311	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.61627	0.09;0.09;0.09	5.74	5.74	0.90152	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.42487	1.325	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.67776	-0.5583	10	0.48119	T	0.1	.	15.2152	0.73261	0.0:0.0:0.0:1.0	.	575	P49917	DNLI4_HUMAN	A	575	ENSP00000385955:T575A;ENSP00000402030:T575A;ENSP00000349393:T575A	ENSP00000349393:T575A	T	-	1	0	LIG4	107659895	1.000000	0.71417	0.836000	0.33094	0.969000	0.65631	7.975000	0.88055	2.178000	0.69098	0.450000	0.29827	ACC		TCGA-IB-7651-01A-11D-2154-08	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	0	0	0	9	320	1	43	0	1.095467e-02	0	40	1	43	5		0	0	0	0	0	2	0	1.048526e-02	9	312	1	42	22								-9.785917	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.310000	0.150000	0.540000	0.300000	0.331554	0.310000	0	2.200000e-01	4.300000e-01
LIG4	3981	broad.mit.edu	37	13	108862042	108862042	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108862042A>C	ENST00000356922.4	-	2	1847	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent			42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)				AAGGCTTCCAATACTTGGCCA	0.428000								Non-homologous end-joining																0							SO:0001587	stop_gained			ENST00000356922.4	0	1	hg19	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727245	0.69074	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	5.28	-5.29	0.02747	.	0.202657	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	20.6139	0.99472	0.131:0.0:0.869:0.0	.	.	.	.	X	525	.	ENSP00000349393:Y525X	Y	-	3	2	LIG4	107660043	0.389000	0.25205	0.066000	0.19879	0.178000	0.23041	-0.339000	0.07832	-0.874000	0.04027	-0.421000	0.06004	TAT		TCGA-IB-7651-01A-11D-2154-08	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	1	0	1	103	513	0	115	1	9.907295e-01	7	31	0	115	2		0	0	0	0	0	2	1	1	101	502	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIG4	3981	broad.mit.edu	37	13	108863228	108863228	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108863228T>C	ENST00000356922.4	-	2	661	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C|LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent			42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)				CAACACAAAATATGCAATCAT	0.373000								Non-homologous end-joining																0							SO:0001583	missense			ENST00000356922.4	1	1	hg19	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499143	0.64298	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.17854	2.25;2.25;2.25	5.84	5.84	0.93424	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	P	0.60415	0.874	T	0.23833	-1.0177	10	0.39692	T	0.17	.	15.4025	0.74852	0.0:0.0:0.0:1.0	.	130	P49917	DNLI4_HUMAN	C	130	ENSP00000385955:Y130C;ENSP00000402030:Y130C;ENSP00000349393:Y130C	ENSP00000349393:Y130C	Y	-	2	0	LIG4	107661229	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	7.633000	0.83260	2.232000	0.73038	0.523000	0.50628	TAT		TCGA-IB-7651-01A-11D-2154-08	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	1	0	1	148	571	0	167	1	9.995778e-01	8	38	0	167	2		0	0	0	0	0	2	1	1	145	567	0	167	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD13	84945	broad.mit.edu	37	13	108881891	108881891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108881891G>A	ENST00000375898.3	+	2	626	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13			17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)				ATACACTGGAGACAATTCACC	0.383000													Pancreas(22;506 789 38166 45896 51596)											0							SO:0001583	missense			ENST00000375898.3	1	1	hg19	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059846	0.36373	.	.	ENSG00000139826	ENST00000375898	T	0.19806	2.12	5.89	5.04	0.67666	.	0.103313	0.64402	D	0.000004	T	0.12092	0.0294	N	0.10874	0.06	0.52501	D	0.999955	B	0.19445	0.036	B	0.12837	0.008	T	0.13791	-1.0496	10	0.25106	T	0.35	-23.612	14.5609	0.68136	0.0711:0.0:0.9289:0.0	.	109	Q7L211	ABHDD_HUMAN	N	109	ENSP00000365063:D109N	ENSP00000365063:D109N	D	+	1	0	ABHD13	107679892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.788000	0.95919	0.557000	0.71058	GAC		TCGA-IB-7651-01A-11D-2154-08	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	1	0	1	47	226	0	70	1	9.999996e-01	16	95	0	70	2		0	0	0	0	0	2	1	1	47	219	0	70	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
MYO16	23026	broad.mit.edu	37	13	109475617	109475617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109475617C>T	ENST00000357550.2	+	8	1063	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	MYO16_ENST00000251041.5_Missense_Mutation_p.S341L|MYO16_ENST00000356711.2_Missense_Mutation_p.S341L	NM_001198950.1	NP_001185879.1			myosin XVI	p.S341L(1)		121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		CCCGTACTGTCGAGTAAGCTG	0.428000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000357550.2	1	1	hg19	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902418	0.33628	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.80824	-1.42;-1.42;-1.17	5.35	5.35	0.76521	.	0.181955	0.26432	U	0.024419	T	0.75729	0.3889	L	0.57536	1.79	0.80722	D	1	P;B	0.37122	0.583;0.398	B;B	0.30401	0.115;0.062	T	0.75459	-0.3310	9	.	.	.	.	16.2063	0.82133	0.0:1.0:0.0:0.0	.	341;341	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	341;341;341;341;129	ENSP00000349145:S341L;ENSP00000350160:S341L;ENSP00000251041:S341L	.	S	+	2	0	MYO16	108273618	0.923000	0.31300	0.339000	0.25562	0.078000	0.17371	3.263000	0.51546	2.499000	0.84300	0.585000	0.79938	TCG		TCGA-IB-7651-01A-11D-2154-08	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	1	115	556	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	113	547	0	94	2								-20.000000	1	1	121410	1	28	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO16	23026	broad.mit.edu	37	13	109644787	109644787	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109644787A>C	ENST00000357550.2	+	20	2408	c.2367A>C	c.(2365-2367)gaA>gaC	p.E789D	MYO16_ENST00000251041.5_Missense_Mutation_p.E789D|MYO16_ENST00000356711.2_Missense_Mutation_p.E789D|MYO16_ENST00000457511.2_Missense_Mutation_p.E301D	NM_001198950.1	NP_001185879.1			myosin XVI			121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		AAAAGAATGAATTTGAACAAG	0.308000																								0							SO:0001583	missense			ENST00000357550.2	1	1	hg19	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877850	0.51801	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.12	-0.171	0.13331	Myosin head, motor domain (3);	0.438833	0.16942	U	0.193259	T	0.74749	0.3757	N	0.24115	0.695	0.27897	N	0.939132	P;P;P	0.39424	0.622;0.622;0.673	B;B;B	0.42738	0.275;0.217;0.396	T	0.65249	-0.6214	9	.	.	.	.	0.9351	0.01343	0.4462:0.1429:0.2545:0.1564	.	301;789;789	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	D	789;789;789;789;577;301	ENSP00000349145:E789D;ENSP00000350160:E789D;ENSP00000251041:E789D;ENSP00000401633:E301D	.	E	+	3	2	MYO16	108442788	0.970000	0.33590	0.996000	0.52242	0.995000	0.86356	-0.061000	0.11693	-0.246000	0.09611	0.460000	0.39030	GAA		TCGA-IB-7651-01A-11D-2154-08	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	1	39	144	0	32	1	4.652857e-01	6	1	0	32	2		0	0	0	0	0	2	1	1	38	143	0	32	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
MYO16	23026	broad.mit.edu	37	13	109817315	109817315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109817315C>T	ENST00000357550.2	+	32	5206	c.5165C>T	c.(5164-5166)aCt>aTt	p.T1722I	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.T1722I	NM_001198950.1	NP_001185879.1			myosin XVI			121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		ACTTCCGAGACTCAAGACAGA	0.323000																								0							SO:0001583	missense			ENST00000357550.2	1	1	hg19	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745984	0.49151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.80566	-1.39;-1.39	5.49	4.64	0.57946	.	0.000000	0.41823	U	0.000818	T	0.74921	0.3780	L	0.60455	1.87	0.80722	D	1	B	0.28713	0.22	B	0.28139	0.086	T	0.70831	-0.4765	9	.	.	.	.	10.7029	0.45937	0.0:0.9123:0.0:0.0877	.	1722	Q9Y6X6	MYO16_HUMAN	I	1722	ENSP00000349145:T1722I;ENSP00000350160:T1722I	.	T	+	2	0	MYO16	108615316	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	1.983000	0.40648	2.579000	0.87056	0.557000	0.71058	ACT		TCGA-IB-7651-01A-11D-2154-08	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	0	23	116	0	40	1	1.392786e-01	3	1	0	40	2		0	0	0	0	0	2	1	9.999995e-01	23	111	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.998708	0.990000	1	9.900000e-01	1
IRS2	8660	broad.mit.edu	37	13	110435097	110435097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110435097T>C	ENST00000375856.3	-	1	3818	c.3304A>G	c.(3304-3306)Acg>Gcg	p.T1102A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2			19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		ACGCCCGACGTCGGGCTGGCC	0.701000													Melanoma(100;613 2409 40847)											0							SO:0001583	missense			ENST00000375856.3	0	1	hg19	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	T	1.291	-0.607717	0.03717	.	.	ENSG00000185950	ENST00000375856	T	0.29917	1.55	3.92	2.74	0.32292	.	0.470757	0.18108	U	0.151454	T	0.19087	0.0458	L	0.38838	1.175	0.09310	N	1	B	0.20988	0.05	B	0.17979	0.02	T	0.17379	-1.0371	10	0.27785	T	0.31	-7.5024	3.2026	0.06655	0.174:0.1998:0.0:0.6262	.	1102	Q9Y4H2	IRS2_HUMAN	A	1102	ENSP00000365016:T1102A	ENSP00000365016:T1102A	T	-	1	0	IRS2	109233098	0.984000	0.35163	0.116000	0.21606	0.048000	0.14542	0.719000	0.25881	0.579000	0.29504	0.524000	0.50904	ACG		TCGA-IB-7651-01A-11D-2154-08	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	1	0	0	16	62	0	9	0	5.245608e-01	0	8	0	9	2		0	0	0	0	0	2	1	9.999619e-01	16	61	0	9	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.997910	0.990000	1	9.900000e-01	1
IRS2	8660	broad.mit.edu	37	13	110436549	110436549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110436549C>T	ENST00000375856.3	-	1	2366	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2			19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		GGAGAGGACGCGGGGCAGGAC	0.692000													Melanoma(100;613 2409 40847)											0							SO:0001583	missense			ENST00000375856.3	0	1	hg19	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151651	0.06585	.	.	ENSG00000185950	ENST00000375856	T	0.20598	2.06	3.19	3.19	0.36642	.	0.347136	0.30177	U	0.010222	T	0.36908	0.0984	L	0.56769	1.78	0.31520	N	0.66251	D	0.89917	1.0	D	0.73708	0.981	T	0.25398	-1.0133	10	0.19147	T	0.46	-15.2542	12.6661	0.56844	0.0:1.0:0.0:0.0	.	618	Q9Y4H2	IRS2_HUMAN	T	618	ENSP00000365016:A618T	ENSP00000365016:A618T	A	-	1	0	IRS2	109234550	0.104000	0.21937	0.357000	0.25798	0.775000	0.43874	0.252000	0.18278	2.072000	0.62099	0.549000	0.68633	GCG		TCGA-IB-7651-01A-11D-2154-08	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	1	0	0	8	81	0	11	1	7.681688e-01	2	28	0	11	2		0	0	0	0	0	2	1	9.900219e-01	8	80	0	11	2								-14.027150	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.950000	0.470000	1.000000	1.000000	0.875780	0.950000	1	6.900000e-01	1
COL4A1	1282	broad.mit.edu	37	13	110828977	110828977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110828977C>A	ENST00000375820.4	-	35	3085	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1			105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		CTGTACCTGGCTGCCCAGGCT	0.597000																								0							SO:0001583	missense			ENST00000375820.4	1	1	hg19	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356882	0.24598	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93189	-3.18	5.77	2.26	0.28386	.	0.185825	0.47852	N	0.000214	D	0.88987	0.6587	L	0.41124	1.26	0.80722	D	1	B	0.32302	0.363	B	0.42882	0.401	T	0.79438	-0.1803	10	0.15066	T	0.55	.	4.4167	0.11459	0.311:0.485:0.0:0.204	.	988	P02462	CO4A1_HUMAN	H	631;988;637	ENSP00000364979:Q988H	ENSP00000364973:Q631H	Q	-	3	2	COL4A1	109626978	0.002000	0.14202	1.000000	0.80357	0.155000	0.21991	-1.685000	0.01930	0.803000	0.34113	-0.182000	0.12963	CAG		TCGA-IB-7651-01A-11D-2154-08	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3	1	0	1	42	238	0	33	0	1	0	2200	0	33	2		0	0	0	0	0	2	1	1	41	235	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999851	0.990000	1	9.900000e-01	1
COL4A1	1282	broad.mit.edu	37	13	110853794	110853794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110853794C>A	ENST00000375820.4	-	19	1196	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1			105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		CCTTTTGGGCCTGGCTCTCCT	0.562000																								0							SO:0001583	missense			ENST00000375820.4	1	1	hg19	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.461247	0.43736	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99369	-5.53;-5.78	3.94	3.94	0.45596	.	0.073296	0.53938	D	0.000048	D	0.99588	0.9851	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97641	1.0148	10	0.87932	D	0	.	15.171	0.72872	0.0:1.0:0.0:0.0	.	359	P02462	CO4A1_HUMAN	C	348;359;359;359	ENSP00000364979:G359C;ENSP00000443348:G359C	ENSP00000364973:G348C	G	-	1	0	COL4A1	109651795	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	5.184000	0.65070	1.926000	0.55796	0.436000	0.28706	GGC		TCGA-IB-7651-01A-11D-2154-08	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3	1	0	1	51	181	0	42	0	1	1	2771	0	42	2		0	0	0	0	0	2	1	1	49	175	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL4A2	1284	broad.mit.edu	37	13	111111123	111111123	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111111123G>A	ENST00000360467.5	+	22	1744	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2			80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		TGCAGGTGACGCTGGGGAATG	0.632000																								0							SO:0001583	missense			ENST00000360467.5	1	1	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585683	0.13749	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.37	1.36	0.22044	.	0.568329	0.15913	N	0.238523	T	0.80019	0.4547	N	0.17474	0.49	0.80722	D	1	P	0.44429	0.835	B	0.35413	0.202	T	0.73228	-0.4049	10	0.10902	T	0.67	.	2.5355	0.04713	0.0888:0.271:0.2813:0.3589	.	480	P08572	CO4A2_HUMAN	T	480	ENSP00000353654:A480T	ENSP00000257309:A480T	A	+	1	0	COL4A2	109909124	0.000000	0.05858	0.006000	0.13384	0.094000	0.18550	-0.225000	0.09151	0.203000	0.20529	-0.182000	0.12963	GCT		TCGA-IB-7651-01A-11D-2154-08	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	0	30	700	0	156	0	1	1	1943	0	156	2		0	0	0	0	0	2	1	1	28	690	0	153	2								-4.275549	1	1	121062	1	45	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.450000	0.310000	0.630000	0.460000	0.470114	0.450000	0	3.800000e-01	5.500000e-01
COL4A2	1284	broad.mit.edu	37	13	111118398	111118398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111118398C>T	ENST00000360467.5	+	26	2333	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2			80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		AGACAGGAGGCCATCCAGCCA	0.493000																								0							SO:0001583	missense			ENST00000360467.5	1	1	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316553	0.05422	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.91237	-2.81	4.67	-2.22	0.06952	.	2.146400	0.02982	N	0.145762	T	0.77605	0.4155	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66834	-0.5823	10	0.19590	T	0.45	.	5.4056	0.16320	0.0:0.2764:0.1621:0.5615	.	676	P08572	CO4A2_HUMAN	V	676	ENSP00000353654:A676V	ENSP00000257309:A676V	A	+	2	0	COL4A2	109916399	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.665000	0.01965	-0.142000	0.11354	-0.363000	0.07495	GCC		TCGA-IB-7651-01A-11D-2154-08	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	0	25	362	0	81	0	1	0	2398	0	81	2		0	0	0	0	0	2	1	9.999998e-01	25	357	0	81	2								-6.902020	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.720000	0.480000	1.000000	1.000000	0.733260	0.720000	0	5.900000e-01	8.700000e-01
COL4A2	1284	broad.mit.edu	37	13	111130421	111130421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111130421G>T	ENST00000360467.5	+	30	2803	c.2497G>T	c.(2497-2499)Ggc>Tgc	p.G833C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2			80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		CGGCCAGCCAGGCCTGTATGG	0.652000																								0							SO:0001583	missense			ENST00000360467.5	1	1	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740068	0.30865	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99637	-6.29	4.21	4.21	0.49690	.	0.000000	0.48286	D	0.000190	D	0.99813	0.9918	H	0.99444	4.57	0.54753	D	0.999987	D	0.56746	0.977	D	0.68353	0.957	D	0.96546	0.9404	10	0.87932	D	0	.	13.9129	0.63878	0.0:0.0:1.0:0.0	.	833	P08572	CO4A2_HUMAN	C	833	ENSP00000353654:G833C	ENSP00000257309:G833C	G	+	1	0	COL4A2	109928422	1.000000	0.71417	0.187000	0.23214	0.413000	0.31143	6.597000	0.74118	2.072000	0.62099	0.499000	0.49734	GGC		TCGA-IB-7651-01A-11D-2154-08	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	1	41	149	0	45	0	1	0	2138	0	45	2		0	0	0	0	0	2	1	1	41	146	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
COL4A2	1284	broad.mit.edu	37	13	111164356	111164356	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111164356A>C	ENST00000360467.5	+	48	5263	c.4957A>C	c.(4957-4959)Aca>Cca	p.T1653P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2			80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		CTTCCGCGCCACACCATTCAT	0.627000																								0							SO:0001583	missense			ENST00000360467.5	1	1	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815592	0.50527	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94613	-3.47	4.91	4.91	0.64330	C-type lectin fold (1);	0.000000	0.53938	D	0.000060	D	0.97349	0.9133	M	0.86740	2.835	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97832	1.0263	10	0.56958	D	0.05	.	14.5597	0.68126	1.0:0.0:0.0:0.0	.	1653	P08572	CO4A2_HUMAN	P	1653	ENSP00000353654:T1653P	ENSP00000257309:T1653P	T	+	1	0	COL4A2	109962357	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.969000	0.76092	1.833000	0.53350	0.459000	0.35465	ACA		TCGA-IB-7651-01A-11D-2154-08	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	0	0	1	49	401	0	128	1	1	8	2920	0	128	2		0	0	0	0	0	2	1	1	48	394	0	127	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.910000	1.000000	1.000000	0.994429	0.990000	1	9.900000e-01	1
CARS2	79587	broad.mit.edu	37	13	111329415	111329415	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111329415G>T	ENST00000257347.4	-	7	754	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)			13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)	L-Cysteine(DB00151)	GCCTTCCACAGGGCGAAGTCA	0.617000																								0							SO:0001583	missense			ENST00000257347.4	1	1	hg19	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	g	13.63	2.294309	0.40594	.	.	ENSG00000134905	ENST00000257347	T	0.69435	-0.4	5.42	3.69	0.42338	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.64402	D	0.000004	D	0.85522	0.5716	H	0.95884	3.735	0.53688	D	0.99997	D	0.89917	1.0	D	0.83275	0.996	D	0.86316	0.1689	10	0.72032	D	0.01	-25.8936	9.4363	0.38641	0.2184:0.0:0.7816:0.0	.	231	Q9HA77	SYCM_HUMAN	M	231	ENSP00000257347:L231M	ENSP00000257347:L231M	L	-	1	2	CARS2	110127416	0.998000	0.40836	0.914000	0.36105	0.114000	0.19823	2.351000	0.44071	0.673000	0.31224	-0.299000	0.09455	CTG		TCGA-IB-7651-01A-11D-2154-08	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	1	0	1	66	247	0	85	1	9.999998e-01	11	79	0	85	2		0	0	0	0	0	2	1	1	66	245	0	83	2								-3.493409	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARS2	79587	broad.mit.edu	37	13	111340107	111340107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111340107C>T	ENST00000257347.4	-	5	595	c.532G>A	c.(532-534)Gga>Aga	p.G178R	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)			13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)	L-Cysteine(DB00151)	GCAATGATTCCTTCAATGAAA	0.403000																								0							SO:0001583	missense			ENST00000257347.4	1	1	hg19	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157371	0.09236	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.26957	1.7	4.71	1.82	0.25136	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.607895	0.16732	N	0.201803	T	0.07413	0.0187	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.36212	-0.9757	10	0.13108	T	0.6	-2.8229	4.1568	0.10265	0.0:0.3798:0.3475:0.2726	.	178	Q9HA77	SYCM_HUMAN	R	178;169	ENSP00000257347:G178R	ENSP00000257347:G178R	G	-	1	0	CARS2	110138108	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-0.014000	0.12656	0.445000	0.26639	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	1	0	1	258	1087	0	270	1	9.999902e-01	8	61	0	270	2		0	0	0	0	0	2	1	1	249	1012	0	269	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ING1	3621	broad.mit.edu	37	13	111368056	111368056	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111368056C>A	ENST00000375774.3	+	1	728	c.266C>A	c.(265-267)cCt>cAt	p.P89H	ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1			12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)		TCCTCCTGGCCTCCGCCCTCC	0.697000																								0							SO:0001583	missense			ENST00000375774.3	1	1	hg19	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363542	0.41902	.	.	ENSG00000153487	ENST00000375774	T	0.32272	1.46	4.02	3.15	0.36227	.	.	.	.	.	T	0.24967	0.0606	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.49561	0.615	T	0.07385	-1.0775	9	0.87932	D	0	-7.4134	9.6479	0.39879	0.0:0.7866:0.2134:0.0	.	89	Q9UK53	ING1_HUMAN	H	89	ENSP00000364929:P89H	ENSP00000364929:P89H	P	+	2	0	ING1	110166057	0.005000	0.15991	0.744000	0.31058	0.493000	0.33554	0.680000	0.25306	1.003000	0.39130	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	1	0	1	15	59	0	14	0	4.647984e-02	0	2	0	14	2		0	0	0	0	0	2	1	9.999229e-01	15	58	0	11	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.960000	1.000000	1.000000	0.997204	0.990000	1	9.900000e-01	1
ARHGEF7	8874	broad.mit.edu	37	13	111896285	111896285	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111896285T>C	ENST00000375741.2	+	8	1139	c.889T>C	c.(889-891)Tac>Cac	p.Y297H	ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y119H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7			41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)		GCTTTCAACGTACCTACGGCC	0.323000																								0							SO:0001583	missense			ENST00000375741.2	1	1	hg19	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076914	0.76415	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	4.82	4.82	0.62117	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0	T	0.74216	-0.3737	10	0.87932	D	0	.	14.0484	0.64719	0.0:0.0:0.0:1.0	.	41;194;41;247;297;276	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	H	276;297;247;204;274;119;119;119;119;194;119;41	ENSP00000325994:Y276H;ENSP00000364893:Y297H;ENSP00000364891:Y247H;ENSP00000359657:Y204H;ENSP00000418067:Y119H;ENSP00000218789:Y119H;ENSP00000364888:Y119H;ENSP00000397068:Y119H;ENSP00000364889:Y194H;ENSP00000364875:Y119H;ENSP00000417596:Y41H	ENSP00000218789:Y119H	Y	+	1	0	ARHGEF7	110694286	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	6.585000	0.74062	1.787000	0.52448	0.383000	0.25322	TAC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	36	149	0	40	1	9.999849e-01	5	70	0	40	2		0	0	0	0	0	2	1	1	35	149	0	40	2								-20.000000	1	1	121406	1	26	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
ARHGEF7	8874	broad.mit.edu	37	13	111953130	111953130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111953130C>T	ENST00000218789.5	+	19	2373	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7			41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)		AGTTTTGCTTCCAGAAGAAGA	0.353000																								0							SO:0001583	missense			ENST00000218789.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.9	4.351760	0.82132	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.57595	0.58;0.39;0.59;0.59;0.62	5.25	5.25	0.73442	.	.	.	.	.	T	0.68952	0.3057	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	T	0.66152	-0.5995	9	0.30854	T	0.27	.	18.8414	0.92186	0.0:1.0:0.0:0.0	.	642	B7Z6G2	.	S	652;626;567;567;642	ENSP00000359657:P652S;ENSP00000218789:P626S;ENSP00000364888:P567S;ENSP00000397068:P567S;ENSP00000364889:P642S	ENSP00000218789:P626S	P	+	1	0	ARHGEF7	110751131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.830000	0.75319	2.420000	0.82092	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3	0	0	1	48	368	0	110	1	9.992987e-01	16	69	0	110	2		0	0	0	0	0	2	1	1	45	363	0	108	2								-17.246180	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.950000	1.000000	1.000000	0.997351	0.990000	1	9.900000e-01	1
TUBGCP3	10426	broad.mit.edu	37	13	113174253	113174253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113174253C>T	ENST00000261965.3	-	15	2014	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TUBGCP3_ENST00000462580.1_5'Flank|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	p.A610T(1)		25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)				TCAAACTGTGCGTTGGTGGCT	0.537000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000261965.3	1	1	hg19	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079384	0.94050	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08807	3.05;3.05	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.81614	2.55	0.80722	D	1	D;P;D	0.76494	0.999;0.879;0.998	D;P;D	0.70227	0.968;0.653;0.957	T	0.06092	-1.0846	10	0.49607	T	0.09	-23.55	18.4225	0.90595	0.0:1.0:0.0:0.0	.	600;610;610	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	T	610	ENSP00000261965:A610T;ENSP00000364821:A610T	ENSP00000261965:A610T	A	-	1	0	TUBGCP3	112222254	1.000000	0.71417	0.803000	0.32268	0.919000	0.55068	7.106000	0.77039	2.336000	0.79503	0.558000	0.71614	GCA		TCGA-IB-7651-01A-11D-2154-08	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	1	0	1	86	432	0	82	1	9.992190e-01	6	49	0	82	2		0	0	0	0	0	2	1	1	85	424	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C13orf35	0	broad.mit.edu	37	13	113333706	113333706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113333706G>T	ENST00000356049.1	+	2	771	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN				5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)		GAACTCACCAGAGGCGAGGCT	0.557000																								0							SO:0001587	stop_gained			ENST00000356049.1	0	1	hg19	CCDS9526.1	.	.	.	.	.	.	.	.	.	.	G	38	6.663447	0.97743	.	.	ENSG00000197595	ENST00000356049	.	.	.	1.82	0.911	0.19343	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0085	0.19559	0.0:0.3287:0.6713:0.0	.	.	.	.	X	5	.	ENSP00000348337:E5X	E	+	1	0	C13orf35	112381707	0.002000	0.14202	0.042000	0.18584	0.018000	0.09664	0.232000	0.17891	0.296000	0.22592	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2	1	0	1	32	154	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	32	153	0	47	2								-2.896338	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999811	0.990000	1	9.900000e-01	1
ATP11A	23250	broad.mit.edu	37	13	113439559	113439559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113439559C>T	ENST00000487903.1	+	2	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_ENST00000375630.2_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A			51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)			ACAACAGGATCGTCTCGTCCA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000487903.1	1	1	hg19	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404897	0.11754	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-4.63	0.03359	.	.	.	.	.	T	0.48169	0.1485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	4	.	.	.	.	6.8484	0.24000	0.4604:0.3299:0.0:0.2097	.	.	.	.	L	25	.	.	S	+	2	0	ATP11A	112487560	0.684000	0.27642	0.737000	0.30932	0.497000	0.33675	-0.285000	0.08410	-0.864000	0.04078	-0.857000	0.03018	TCG		TCGA-IB-7651-01A-11D-2154-08	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	1	0	1	51	367	0	95	1	9.969181e-01	16	49	0	95	2		0	0	0	0	0	2	1	1	50	363	0	95	2								-19.670180	1	1	121328	4	35	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999040	0.990000	1	9.900000e-01	1
ATP11A	23250	broad.mit.edu	37	13	113478723	113478723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113478723C>T	ENST00000487903.1	+	10	944	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A			51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)			ATCTCAGAAGCGATCTGCCGT	0.458000																								0							SO:0001587	stop_gained			ENST00000487903.1	0	1	hg19	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427410	0.83667	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.	.	.	4.77	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6097	0.28122	0.465:0.4582:0.0:0.0768	.	.	.	.	X	286	.	ENSP00000283558:R286X	R	+	1	2	ATP11A	112526724	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	1.787000	0.38704	0.102000	0.17638	0.455000	0.32223	CGA		TCGA-IB-7651-01A-11D-2154-08	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	1	0	0	18	286	0	65	0	9.197021e-01	0	71	0	65	2		0	0	0	0	0	2	1	9.999831e-01	18	284	0	65	2								-3.318794	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.660000	0.410000	0.980000	1.000000	0.678345	0.660000	0	5.200000e-01	8.200000e-01
ATP11A	23250	broad.mit.edu	37	13	113496682	113496682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113496682C>T	ENST00000487903.1	+	17	1886	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C|ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C|ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C			P98196	AT11A_HUMAN	ATPase, class VI, type 11A			51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)			CAGAGTGGAGCGTAACGCAGT	0.532000																								0							SO:0001583	missense			ENST00000487903.1	1	1	hg19	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588287	0.66105	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.9	4.9	0.64082	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.241555	0.46758	D	0.000275	D	0.86435	0.5932	L	0.43598	1.365	0.80722	D	1	D;P;P	0.69078	0.997;0.951;0.918	P;P;P	0.58077	0.832;0.773;0.67	D	0.88191	0.2877	10	0.87932	D	0	.	18.4568	0.90724	0.0:1.0:0.0:0.0	.	600;600;600	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	C	600;600;600;600;41	ENSP00000420387:R600C;ENSP00000364781:R600C;ENSP00000364796:R600C;ENSP00000283558:R600C	ENSP00000283558:R600C	R	+	1	0	ATP11A	112544683	1.000000	0.71417	0.994000	0.49952	0.102000	0.19082	7.093000	0.76937	2.421000	0.82119	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	1	0	1	14	41	0	11	1	9.999987e-01	24	69	0	11	2		0	0	0	0	0	2	1	9.998683e-01	13	41	0	11	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.998148	0.990000	1	9.900000e-01	1
MCF2L	23263	broad.mit.edu	37	13	113740496	113740496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113740496G>T	ENST00000375608.3	+	22	2454	c.2396G>T	c.(2395-2397)aGc>aTc	p.S799I	MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I|MCF2L_ENST00000397030.1_Missense_Mutation_p.S802I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like			8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)			GAGGCGCTGAGCTCCATCCTG	0.632000																								0							SO:0001583	missense			ENST00000375608.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.986538|1.986538	0.35036|0.35036	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.64260	.|-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.67|4.67	3.8|3.8	0.43715|0.43715	.|Dbl homology (DH) domain (5);	.|0.220796	.|0.45361	.|D	.|0.000373	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.31294|0.31294	0.92|0.92	0.37373|0.37373	D|D	0.911736|0.911736	.|D;P;D;D;P;D	.|0.63046	.|0.972;0.933;0.992;0.985;0.817;0.978	.|B;B;P;P;B;P	.|0.54629	.|0.426;0.426;0.644;0.757;0.426;0.679	T|T	0.61855|0.61855	-0.6977|-0.6977	5|10	.|0.45353	.|T	.|0.12	.|.	7.5177|7.5177	0.27610|0.27610	0.1088:0.4278:0.4634:0.0|0.1088:0.4278:0.4634:0.0	.|.	.|767;769;826;731;767;799	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	D|I	429|799;799;826;802;769;773;773;775;767;767;610	.|ENSP00000364758:S799I;ENSP00000401422:S799I;ENSP00000364754:S826I;ENSP00000380225:S802I;ENSP00000440374:S769I;ENSP00000397285:S773I;ENSP00000364751:S773I;ENSP00000407722:S775I;ENSP00000405639:S767I;ENSP00000364747:S767I	.|ENSP00000364747:S767I	E|S	+|+	3|2	2|0	MCF2L|MCF2L	112788497|112788497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.240000|0.240000	0.25518|0.25518	4.451000|4.451000	0.60047|0.60047	2.157000|2.157000	0.67596|0.67596	0.196000|0.196000	0.17591|0.17591	GAG|AGC		TCGA-IB-7651-01A-11D-2154-08	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4	1	0	1	49	185	0	53	1	9.994616e-01	7	39	0	53	2		0	0	0	0	0	2	1	1	49	181	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
F10	2159	broad.mit.edu	37	13	113803401	113803401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803401G>A	ENST00000375559.3	+	8	1075	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X			18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)	Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CTCCCCGAGCGTGACTGGGCC	0.642000																								0							SO:0001583	missense			ENST00000375559.3	1	1	hg19	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960766	0.18583	.	.	ENSG00000126218	ENST00000375559	D	0.93076	-3.16	5.11	3.95	0.45737	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.422310	0.24145	N	0.041130	D	0.89904	0.6850	L	0.55103	1.725	0.09310	N	1	P	0.48764	0.915	B	0.41894	0.369	T	0.83310	-0.0023	10	0.56958	D	0.05	.	7.3273	0.26563	0.6148:0.3028:0.0825:0.0	.	346	P00742	FA10_HUMAN	H	346	ENSP00000364709:R346H	ENSP00000364709:R346H	R	+	2	0	F10	112851402	0.000000	0.05858	0.895000	0.35142	0.002000	0.02628	-0.021000	0.12504	0.804000	0.34136	-0.379000	0.06801	CGT		TCGA-IB-7651-01A-11D-2154-08	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3	1	0	1	117	395	0	86	0	9.940987e-01	0	29	0	86	2		0	0	0	0	0	2	1	1	117	388	0	85	2								-20.000000	1	1	121402	2	31	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
F10	2159	broad.mit.edu	37	13	113803648	113803648	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803648G>T	ENST00000375559.3	+	8	1322	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X			18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)	Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CCCGCTTCAAGGACACCTACT	0.612000																								0							SO:0001583	missense			ENST00000375559.3	1	1	hg19	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	6.471	0.454987	0.12283	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	5.38	2.51	0.30379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.513361	0.22091	N	0.064756	T	0.79311	0.4424	N	0.02103	-0.685	0.29479	N	0.856484	B	0.31274	0.317	B	0.40285	0.325	T	0.72836	-0.4172	10	0.72032	D	0.01	.	1.5405	0.02554	0.2537:0.1415:0.4593:0.1455	.	428	P00742	FA10_HUMAN	N	428	ENSP00000364709:K428N	ENSP00000364709:K428N	K	+	3	2	F10	112851649	0.934000	0.31675	0.083000	0.20561	0.005000	0.04900	0.753000	0.26376	0.177000	0.19895	-0.175000	0.13238	AAG		TCGA-IB-7651-01A-11D-2154-08	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3	1	0	0	22	437	0	74	0	5.478220e-01	1	36	0	74	2		0	0	0	0	0	2	1	9.999986e-01	22	431	0	73	2								-3.324524	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.530000	0.340000	0.770000	0.530000	0.550764	0.530000	0	4.300000e-01	6.600000e-01
F10	2159	broad.mit.edu	37	13	113803779	113803779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803779C>A	ENST00000375559.3	+	8	1453	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X			18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)	Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	AGGGGCTTGCCCAAGGCCAAG	0.582000																								0							SO:0001583	missense			ENST00000375559.3	1	1	hg19	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	9.834	1.189142	0.21954	.	.	ENSG00000126218	ENST00000375559	D	0.92199	-2.99	2.37	2.37	0.29283	.	2.443350	0.01620	N	0.022984	D	0.89206	0.6649	L	0.46157	1.445	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.73572	-0.3940	9	.	.	.	.	8.3325	0.32195	0.0:1.0:0.0:0.0	.	472	P00742	FA10_HUMAN	H	472	ENSP00000364709:P472H	.	P	+	2	0	F10	112851780	0.001000	0.12720	0.007000	0.13788	0.018000	0.09664	0.876000	0.28092	1.626000	0.50381	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3	1	0	1	71	432	0	82	0	5.679887e-01	0	13	0	82	2		0	0	0	0	0	2	1	1	70	424	0	80	2								-3.318946	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
PROZ	8858	broad.mit.edu	37	13	113813025	113813025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113813025C>T	ENST00000375547.2	+	1	58	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PROZ_ENST00000342783.4_Silent_p.L17L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein			16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)	Menadione(DB00170)	TCCTCGCCCTCCATCGTGTGG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000375547.2	0	1	hg19	CCDS9531.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	1	0	1	10	52	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.974736e-01	9	52	0	13	2								-18.669200	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.770000	1.000000	1.000000	0.981771	0.990000	1	9.900000e-01	1
LAMP1	3916	broad.mit.edu	37	13	113975904	113975904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113975904C>T	ENST00000332556.4	+	8	1170	c.976C>T	c.(976-978)Cga>Tga	p.R326*	LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1			16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		CGGCTCCCTGCGAGCGCTGCA	0.602000																								0							SO:0001587	stop_gained			ENST00000332556.4	0	1	hg19	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864919	0.91511	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	.	.	.	5.27	1.3	0.21679	.	0.404542	0.29040	N	0.013330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-29.2117	12.9598	0.58451	0.61:0.39:0.0:0.0	.	.	.	.	X	326;273	.	ENSP00000333298:R326X	R	+	1	2	LAMP1	113023905	0.997000	0.39634	0.629000	0.29254	0.001000	0.01503	1.837000	0.39201	0.004000	0.14682	-1.748000	0.00681	CGA		TCGA-IB-7651-01A-11D-2154-08	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2	1	0	1	83	550	0	106	1	1	11	1319	0	106	2		0	0	0	0	0	2	1	1	82	538	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
GRTP1	79774	broad.mit.edu	37	13	113980393	113980393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113980393C>T	ENST00000375431.4	-	6	650	c.576G>A	c.(574-576)ccG>ccA	p.P192P	GRTP1_ENST00000326039.3_Silent_p.P114P|GRTP1_ENST00000375430.4_Silent_p.P192P	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1			14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		CCAGCATGGCCGGGCTGTAGT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000375431.4	1	1	hg19	CCDS9534.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	1	0	0	41	386	0	61	1	9.615584e-01	12	40	0	61	2		0	0	0	0	0	2	1	1	40	383	0	61	2								-3.142702	1	1	121382	15	43	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.780000	1.000000	1.000000	0.969985	0.990000	1	9.100000e-01	1
TMCO3	55002	broad.mit.edu	37	13	114156189	114156189	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114156189T>C	ENST00000434316.2	+	5	1298	c.939T>C	c.(937-939)agT>agC	p.S313S	TMCO3_ENST00000375391.1_Silent_p.S313S|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3			25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)		GACTAAATAGTATTAAGGTAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000434316.2	1	1	hg19	CCDS9537.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	1	0	1	87	312	0	56	1	1	67	191	0	56	2		0	0	0	0	0	2	1	1	82	307	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFDP1	7027	broad.mit.edu	37	13	114288234	114288234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114288234C>T	ENST00000375370.5	+	7	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.R73R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1			26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)		TAAGACGGCGCGTCTACGATG	0.488000										TSP Lung(29;0.18)														0							SO:0001819	synonymous_variant			ENST00000375370.5	1	1	hg19	CCDS9538.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	1	0	1	70	427	0	113	1	1	40	150	0	113	2		0	0	0	0	0	2	1	1	70	416	0	111	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
GRK1	6011	broad.mit.edu	37	13	114321980	114321980	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114321980G>T	ENST00000335678.6	+	1	511	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1			2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)		AAGACATCGAGGACTATGACA	0.587000																								0							SO:0001583	missense			ENST00000335678.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.58	2.578195	0.45902	.	.	ENSG00000185974	ENST00000335678	T	0.02369	4.32	5.25	4.39	0.52855	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.44807	D	0.997813	D	0.76494	0.999	D	0.85130	0.997	T	0.32295	-0.9912	9	0.21014	T	0.42	-56.5093	8.6131	0.33815	0.1752:0.0:0.8248:0.0	.	93	Q15835	RK_HUMAN	D	93	ENSP00000334876:E93D	ENSP00000334876:E93D	E	+	3	2	GRK1	113369981	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	1.632000	0.37102	2.438000	0.82558	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	1	0	1	45	271	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	45	269	0	86	2								-2.881484	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999809	0.990000	1	9.900000e-01	1
GAS6	2621	broad.mit.edu	37	13	114526473	114526473	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114526473C>T	ENST00000327773.6	-	13	1674	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.V553M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6			5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)			ATGTGAGCCACGACTTCTACT	0.607000																								0							SO:0001583	missense			ENST00000327773.6	1	1	hg19	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750267	0.15778	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.87	-3.2	0.05156	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.58538	0.2129	L	0.33485	1.01	0.09310	N	1	P;B;B	0.35575	0.51;0.118;0.143	B;B;B	0.17722	0.019;0.012;0.006	T	0.42832	-0.9428	9	0.54805	T	0.06	-5.1945	8.0893	0.30790	0.0:0.1474:0.1382:0.7144	.	553;237;510	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	553;456;237;211;510	ENSP00000349962:V553M;ENSP00000348003:V456M;ENSP00000416498:V237M;ENSP00000400117:V211M;ENSP00000331831:V510M	ENSP00000331831:V510M	V	-	1	0	GAS6	113587470	0.050000	0.20438	0.001000	0.08648	0.008000	0.06430	0.133000	0.15912	-0.685000	0.05177	-0.140000	0.14226	GTG		TCGA-IB-7651-01A-11D-2154-08	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	1	0	1	58	371	0	83	1	1	95	888	0	83	2		0	0	0	0	0	2	1	1	57	365	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999903	0.990000	1	9.900000e-01	1
GAS6	2621	broad.mit.edu	37	13	114530064	114530064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114530064G>A	ENST00000327773.6	-	12	1528	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M	GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.T504M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6			5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)			CACTTTCACCGTTTCCTGGAT	0.557000																								0							SO:0001583	missense			ENST00000327773.6	1	1	hg19	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516076	0.27123	0.0	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	D;D;D;D;D	0.91011	-2.77;-2.36;-2.09;-2.1;-2.77	4.55	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.92993	0.7770	M	0.72479	2.2	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.994;0.979	P;P;P	0.60949	0.881;0.619;0.653	D	0.92439	0.5960	9	0.48119	T	0.1	-19.8378	11.4483	0.50136	0.1599:0.0:0.8401:0.0	.	504;188;461	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	M	504;407;188;162;461	ENSP00000349962:T504M;ENSP00000348003:T407M;ENSP00000416498:T188M;ENSP00000400117:T162M;ENSP00000331831:T461M	ENSP00000331831:T461M	T	-	2	0	GAS6	113583879	1.000000	0.71417	0.041000	0.18516	0.008000	0.06430	5.680000	0.68168	2.067000	0.61834	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	1	0	1	62	328	0	95	1	1	139	1116	0	95	2		0	0	0	0	0	2	1	1	60	321	0	93	2								-3.152074	1	1	121386	3	37	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
GAS6	2621	broad.mit.edu	37	13	114531617	114531617	+	Missense_Mutation	SNP	G	G	A	rs146140804	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114531617G>A	ENST00000327773.6	-	11	1357	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	GAS6_ENST00000355761.4_Missense_Mutation_p.A350V|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.A447V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6			5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)			CCCGGCCACCGCGATTTTCAT	0.557000																								0							SO:0001583	missense			ENST00000327773.6	1	1	hg19	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.862531	0.32884	2.27E-4	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.72630	0.3484	M	0.76838	2.35	0.58432	D	0.999999	P;P;D	0.63046	0.592;0.821;0.992	B;B;B	0.40565	0.041;0.187;0.333	T	0.74542	-0.3631	9	0.39692	T	0.17	-30.638	13.2677	0.60144	0.0772:0.0:0.9228:0.0	.	447;131;404	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	V	447;350;131;105;404	ENSP00000349962:A447V;ENSP00000348003:A350V;ENSP00000416498:A131V;ENSP00000400117:A105V;ENSP00000331831:A404V	ENSP00000331831:A404V	A	-	2	0	GAS6	113582326	1.000000	0.71417	0.483000	0.27378	0.588000	0.36517	6.843000	0.75384	1.076000	0.40961	0.550000	0.68814	GCG		TCGA-IB-7651-01A-11D-2154-08	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	1	0	1	75	319	0	90	1	1	98	738	0	90	2		0	0	0	0	0	2	1	1	71	314	0	89	2								-3.495061	1	1	121400	3	37	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAS6	2621	broad.mit.edu	37	13	114541118	114541118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114541118G>A	ENST00000327773.6	-	6	659	c.513C>T	c.(511-513)tgC>tgT	p.C171C	GAS6_ENST00000355761.4_Silent_p.C117C|GAS6_ENST00000450766.1_5'Flank|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Silent_p.C171C	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6			5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)			GCTTGTTGTGGCAGATCTGGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000327773.6	1	1	hg19	CCDS45072.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	1	0	1	63	432	0	108	1	1	90	721	0	108	2		0	0	0	0	0	2	1	1	62	421	0	105	2								-19.999990	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999817	0.990000	1	9.900000e-01	1
RASA3	22821	broad.mit.edu	37	13	114795310	114795310	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114795310G>A	ENST00000334062.7	-	5	547	c.426C>T	c.(424-426)gtC>gtT	p.V142V	RASA3_ENST00000542651.1_Missense_Mutation_p.R111C|RASA3_ENST00000389544.4_Silent_p.V110V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3			47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)		TGTGGCAGACGACCCCAGTGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000334062.7	0	1	hg19	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275872	0.40294	.	.	ENSG00000185989	ENST00000542651	T	0.18810	2.19	4.5	-1.6	0.08426	.	.	.	.	.	T	0.13927	0.0337	.	.	.	0.27189	N	0.960467	.	.	.	.	.	.	T	0.34153	-0.9840	5	.	.	.	.	5.8744	0.18820	0.4508:0.0:0.427:0.1222	.	.	.	.	C	111	ENSP00000439008:R111C	.	R	-	1	0	RASA3	113813412	0.459000	0.25768	0.061000	0.19648	0.857000	0.48899	0.095000	0.15127	-0.728000	0.04882	-0.221000	0.12465	CGT		TCGA-IB-7651-01A-11D-2154-08	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	0	0	1	5	36	0	13	1	9.824881e-01	9	52	0	13	2		0	0	0	0	0	2	1	9.377104e-01	5	35	0	13	2								-11.258590	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.470000	1.000000	1.000000	0.907939	0.990000	1	7.400000e-01	1
CDC16	8881	broad.mit.edu	37	13	115002285	115002285	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115002285G>T	ENST00000356221.3	+	3	223	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000360383.3_Missense_Mutation_p.D39Y|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000375310.1_5'UTR			Q13042	CDC16_HUMAN	cell division cycle 16			22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)		AGAACCCCAGGACATCTATTG	0.413000																								0							SO:0001583	missense			ENST00000356221.3	1	1	hg19	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126752	0.56721	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000252457	T;T;T	0.35973	1.28;1.28;1.28	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.988;0.992;0.989	T	0.70019	-0.4987	9	.	.	.	-6.0586	18.4048	0.90532	0.0:0.0:1.0:0.0	.	39;38;38;39	B4DK74;Q13042-3;Q13042-2;Q13042	.;.;.;CDC16_HUMAN	Y	39;39;38	ENSP00000353549:D39Y;ENSP00000348554:D39Y;ENSP00000252457:D38Y	.	D	+	1	0	CDC16	114020387	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	8.425000	0.90270	2.824000	0.97209	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	1	0	1	101	486	0	128	1	1	39	95	0	128	2		0	0	0	0	0	2	1	1	97	465	0	126	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UPF3A	65110	broad.mit.edu	37	13	115070355	115070355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115070355C>T	ENST00000375299.3	+	10	1450	c.1394C>T	c.(1393-1395)tCg>tTg	p.S465L	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)			16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)		GCAGAAGGTTCGGGGACTGGT	0.602000																								0							SO:0001583	missense			ENST00000375299.3	1	1	hg19	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802184	0.31869	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.77620	-1.11;-1.11	3.47	2.56	0.30785	.	2.138080	0.03144	N	0.166950	T	0.68366	0.2993	L	0.38175	1.15	0.09310	N	1	B;B	0.26081	0.059;0.141	B;B	0.17098	0.011;0.017	T	0.51164	-0.8740	9	.	.	.	.	6.2334	0.20750	0.1828:0.7158:0.0:0.1015	.	432;465	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	L	465;432;197	ENSP00000364448:S465L;ENSP00000329592:S432L	.	S	+	2	0	UPF3A	114088457	0.004000	0.15560	0.001000	0.08648	0.066000	0.16364	0.321000	0.19558	0.707000	0.31934	0.563000	0.77884	TCG		TCGA-IB-7651-01A-11D-2154-08	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2	1	0	0	48	168	0	46	1	9.995447e-01	7	37	0	46	2		0	0	0	0	0	2	1	1	46	163	0	47	2								-20.000000	1	1	121410	2	31	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TUBA3C	7278	broad.mit.edu	37	13	19751686	19751686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19751686C>T	ENST00000400113.3	-	4	541	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c			72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)			GAACCCAGAGCCAGTGCCACC	0.562000																								0							SO:0001583	missense			ENST00000400113.3	1	1	hg19	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	9.493	1.101209	0.20632	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.96200	-3.94	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000187	D	0.95478	0.8531	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	D	0.94286	0.7524	7	0.87932	D	0	.	8.3041	0.32032	0.0:1.0:0.0:0.0	.	.	.	.	D	146	ENSP00000382982:G146D	ENSP00000354037:G146D	G	-	2	0	TUBA3C	18649686	1.000000	0.71417	0.994000	0.49952	0.186000	0.23388	6.253000	0.72453	0.966000	0.38159	0.162000	0.16502	GGC		TCGA-IB-7651-01A-11D-2154-08	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	1	0	1	60	396	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	58	389	0	101	2								-19.999990	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999871	0.990000	1	9.900000e-01	1
TPTE2	93492	broad.mit.edu	37	13	20025342	20025342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20025342C>A	ENST00000400230.2	-	11	809	c.765G>T	c.(763-765)aaG>aaT	p.K255N	TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)			TTCGATGTTTCTTATCTAGAA	0.363000																								0							SO:0001583	missense			ENST00000400230.2	1	1	hg19	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	2.644	-0.283456	0.05642	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	2.63	0.805	0.18703	Phosphatase tensin type (1);	0.344519	0.30293	N	0.009953	T	0.15955	0.0384	N	0.24115	0.695	0.22581	N	0.998966	B;B;B	0.22851	0.042;0.062;0.076	B;B;B	0.28305	0.088;0.053;0.088	T	0.16276	-1.0408	9	.	.	.	-4.094	3.5972	0.08010	0.1609:0.2761:0.563:0.0	.	144;178;255	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	215;144;255;178;178;255;215;144;255;124	ENSP00000372438:K215N;ENSP00000382974:K144N;ENSP00000383089:K255N;ENSP00000255310:K178N;ENSP00000375098:K178N;ENSP00000372437:K255N;ENSP00000372435:K215N;ENSP00000442218:K144N	.	K	-	3	2	TPTE2	18923342	0.173000	0.23056	0.349000	0.25694	0.182000	0.23217	-1.029000	0.03585	0.182000	0.20032	0.194000	0.17425	AAG		TCGA-IB-7651-01A-11D-2154-08	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	28	217	0	81	0	0	0	1	0	81	2		0	0	0	0	0	2	1	1	26	212	0	84	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.850000	1.000000	1.000000	0.989374	0.990000	1	9.900000e-01	1
TPTE2	93492	broad.mit.edu	37	13	20077418	20077418	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20077418C>A	ENST00000382977.4	-	2	168		c.e2-1		TPTE2_ENST00000400230.2_5'UTR|TPTE2_ENST00000382975.4_Splice_Site|TPTE2_ENST00000255310.6_5'UTR|TPTE2_ENST00000382978.1_5'Flank|TPTE2_ENST00000457266.2_Splice_Site|TPTE2_ENST00000400103.2_Splice_Site|TPTE2_ENST00000390680.2_Splice_Site	NM_199254.2	NP_954863.2	Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)			TGTGGGTGGACTAGAGGATGA	0.358000																								0							SO:0001630	splice_region_variant			ENST00000382977.4	0	1	hg19	CCDS45014.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPTE2-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	8	214	0	48		0	0	0	0	48	2		0	0	0	0	0	2	0	9.791018e-01	1	184	0	52	2								-9.926006	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.410000	0.190000	0.720000	0.390000	0.436440	0.410000	0	2.900000e-01	5.700000e-01
PSPC1	55269	broad.mit.edu	37	13	20325517	20325517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20325517C>A	ENST00000338910.4	-	4	1020	c.861G>T	c.(859-861)aaG>aaT	p.K287N		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1			23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)			CACGCTGCTGCTTTTCCATTT	0.428000																								0							SO:0001583	missense			ENST00000338910.4	1	0	hg19	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409324	0.42715	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.21543	2.0	4.83	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.72479	2.2	0.80722	D	1	B	0.20780	0.048	B	0.25614	0.062	T	0.10154	-1.0642	10	0.72032	D	0.01	-24.8617	13.155	0.59511	0.0:0.9221:0.0:0.0779	.	287	Q8WXF1	PSPC1_HUMAN	N	287;227	ENSP00000343966:K287N	ENSP00000343966:K287N	K	-	3	2	PSPC1	19223517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.096000	0.30976	1.172000	0.42781	0.555000	0.69702	AAG		TCGA-IB-7651-01A-11D-2154-08	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2	1	0	1	147	685	0	117	1	1	41	94	0	117	2		0	0	0	0	0	2	1	1	138	649	0	121	2								-4.245040	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMYM5	9205	broad.mit.edu	37	13	20409711	20409711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20409711T>C	ENST00000337963.4	-	7	1421	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5			15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)			ACTAGGCATGTACTCTCCACA	0.373000																								0							SO:0001583	missense			ENST00000337963.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	20.9	4.065139	0.76187	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.27720	1.65;1.66	4.88	4.88	0.63580	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67593	-0.5631	10	0.87932	D	0	-10.2506	14.9478	0.71047	0.0:0.0:0.0:1.0	.	386	Q9UJ78	ZMYM5_HUMAN	C	386;376	ENSP00000337034:Y386C;ENSP00000445779:Y376C	ENSP00000337034:Y386C	Y	-	2	0	ZMYM5	19307711	1.000000	0.71417	0.800000	0.32199	0.950000	0.60333	7.459000	0.80802	2.176000	0.68965	0.454000	0.30748	TAC		TCGA-IB-7651-01A-11D-2154-08	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	39	117	0	45	1	9.994100e-01	10	28	0	45	2		0	0	0	0	0	2	1	1	39	111	0	45	2								-20.000000	1	1	120688	1	26	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZMYM2	7750	broad.mit.edu	37	13	20625673	20625673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20625673G>A	ENST00000382874.2	+	14	2583	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	ZMYM2_ENST00000382869.3_Missense_Mutation_p.R798H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2			10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)			TGCTTACTGCGTTTCTACTGT	0.398000																								0							SO:0001583	missense			ENST00000382874.2	1	1	hg19	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558110	0.65538	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T	0.46063	2.21;0.88	5.63	5.63	0.86233	TRASH (1);Zinc finger, MYM-type (1);	0.147068	0.64402	D	0.000014	T	0.59770	0.2218	L	0.47716	1.5	0.54753	D	0.999984	D	0.89917	1.0	D	0.70935	0.971	T	0.57207	-0.7851	10	0.49607	T	0.09	-6.5552	19.6626	0.95878	0.0:0.0:1.0:0.0	.	798	Q9UBW7	ZMYM2_HUMAN	H	798;798;796;796;280;176	ENSP00000372322:R798H;ENSP00000372336:R280H	ENSP00000372322:R798H	R	+	2	0	ZMYM2	19523673	1.000000	0.71417	0.952000	0.39060	0.862000	0.49288	5.016000	0.64041	2.643000	0.89663	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	1	0	1	53	170	0	54	1	1	31	121	0	54	2		0	0	0	0	0	2	1	1	52	166	0	54	2								-20.000000	1	1	120846	2	34	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMYM2	7750	broad.mit.edu	37	13	20635250	20635250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20635250G>A	ENST00000382874.2	+	18	2987	c.2797G>A	c.(2797-2799)Gca>Aca	p.A933T	ZMYM2_ENST00000382869.3_Missense_Mutation_p.A933T|ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2			10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)			GATTCCTGCAGCAATTGAGGA	0.408000																								0							SO:0001583	missense			ENST00000382874.2	1	1	hg19	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136700	0.06711	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.15718	2.4	5.54	2.83	0.33086	.	0.542317	0.22326	N	0.061523	T	0.08179	0.0204	N	0.16233	0.39	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.40869	-0.9540	10	0.02654	T	1	-1.6549	9.643	0.39850	0.0659:0.0:0.6795:0.2546	.	933	Q9UBW7	ZMYM2_HUMAN	T	933;933;931;931;311	ENSP00000372322:A933T	ENSP00000372322:A933T	A	+	1	0	ZMYM2	19533250	0.002000	0.14202	0.007000	0.13788	0.877000	0.50540	1.299000	0.33424	0.369000	0.24510	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	1	0	1	20	68	0	28	1	1	36	99	0	28	2		0	0	0	0	0	2	1	9.999976e-01	20	67	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999492	0.990000	1	9.900000e-01	1
GJA3	2700	broad.mit.edu	37	13	20716897	20716897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20716897C>T	ENST00000241125.3	-	2	707	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa			7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)			AGCGGTAGAGCGGCTTCAGCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000241125.3	1	1	hg19	CCDS9289.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	0	0	0	61	310	1	54		0	0	0	1	54	2		0	0	0	0	0	2	1	9.999993e-01	62	304	1	53	21								-3.338680	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
GJA3	2700	broad.mit.edu	37	13	20717142	20717142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20717142C>T	ENST00000241125.3	-	2	462	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa			7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)			ATGTGCAGCACGTGGCCCAGG	0.607000																								0							SO:0001583	missense			ENST00000241125.3	0	1	hg19	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848041	0.91277	.	.	ENSG00000121743	ENST00000241125	D	0.99239	-5.61	5.36	5.36	0.76844	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99115	0.9695	L	0.59912	1.85	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	D	0.99879	1.1110	10	0.72032	D	0.01	.	19.094	0.93242	0.0:1.0:0.0:0.0	.	96	Q9Y6H8	CXA3_HUMAN	M	96	ENSP00000241125:V96M	ENSP00000241125:V96M	V	-	1	0	GJA3	19615142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.837000	0.62796	2.517000	0.84864	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	1	0	1	10	77	0	13	0	1.647940e-02	1	1	0	13	2		0	0	0	0	0	2	1	9.971191e-01	10	75	0	13	2								-17.003580	1	0	121350	1	17	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.630000	1.000000	1.000000	0.949312	0.990000	1	8.600000e-01	1
GJB2	2706	broad.mit.edu	37	13	20763277	20763277	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20763277G>A	ENST00000382844.1	-	1	642	c.444C>T	c.(442-444)gcC>gcT	p.A148A	GJB2_ENST00000382848.4_Silent_p.A148A			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa			7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)			ACATGAAGGCGGCTTCGAAGA	0.542000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant	Familial Cancer Database	KID syndrome	ENST00000382844.1	1	1	hg19	CCDS9290.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1	1	0	1	58	316	0	70	1	9.999873e-01	24	68	0	70	2		0	0	0	0	0	2	1	1	57	305	0	66	2								-2.723103	1	1	121412	1	29	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
GJB6	10804	broad.mit.edu	37	13	20797436	20797436	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797436T>G	ENST00000356192.6	-	5	804	c.184A>C	c.(184-186)Aat>Cat	p.N62H	GJB6_ENST00000241124.6_Missense_Mutation_p.N62H|GJB6_ENST00000400066.3_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa			9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)			TAGCACACATTTTTGCATCCC	0.567000																								0							SO:0001583	missense			ENST00000356192.6	1	1	hg19	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916291	0.52546	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	5.38	5.38	0.77491	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.94142	3.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97903	1.0304	10	0.87932	D	0	.	15.4199	0.75003	0.0:0.0:0.0:1.0	.	62	O95452	CXB6_HUMAN	H	62	ENSP00000241124:N62H;ENSP00000382938:N62H;ENSP00000382939:N62H;ENSP00000348521:N62H	ENSP00000241124:N62H	N	-	1	0	GJB6	19695436	1.000000	0.71417	0.986000	0.45419	0.025000	0.11179	7.991000	0.88244	2.030000	0.59900	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1	0	0	0	7	283	0	75	0	8.415541e-04	1	1	0	75	2		0	0	0	0	0	2	1	9.799760e-01	7	279	0	73	2								-8.366155	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.280000	0.120000	0.510000	0.260000	0.299825	0.280000	0	1.900000e-01	4.000000e-01
GJB6	10804	broad.mit.edu	37	13	20797589	20797589	+	Missense_Mutation	SNP	C	C	T	rs104894415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797589C>T	ENST00000356192.6	-	5	651	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400066.3_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa			9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)			TTGACACCCCCGATGAAAGTG	0.507000																								0		GRCh37	CM002605	GJB6	M	rs104894415	SO:0001583	missense			ENST00000356192.6	1	1	hg19	CCDS9291.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164711	0.38217	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	5.38	5.38	0.77491	Connexin, N-terminal (1);	0.134693	0.49916	D	0.000127	D	0.98789	0.9592	L	0.60455	1.87	0.51482	A	0.999923	D	0.89917	1.0	D	0.65010	0.931	D	0.99917	1.1229	9	0.62326	D	0.03	.	12.4904	0.55897	0.0:0.9239:0.0:0.076	.	11	O95452	CXB6_HUMAN	R	11	ENSP00000241124:G11R;ENSP00000382938:G11R;ENSP00000382939:G11R;ENSP00000348521:G11R	ENSP00000241124:G11R	G	-	1	0	GJB6	19695589	0.972000	0.33761	0.859000	0.33776	0.021000	0.10359	2.917000	0.48821	2.507000	0.84556	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1	1	0	1	115	531	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	113	520	0	130	2								-2.680447	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT88	8100	broad.mit.edu	37	13	21212570	21212570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21212570G>A	ENST00000319980.6	+	19	1840	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	IFT88_ENST00000382778.4_Missense_Mutation_p.A505T|IFT88_ENST00000351808.5_Missense_Mutation_p.A496T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88			27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)			TACAGTTTTTGCAAATGGTGA	0.368000																								0							SO:0001583	missense			ENST00000319980.6	1	1	hg19	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725880	0.48833	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.115379	0.64402	D	0.000016	T	0.36138	0.0956	N	0.11756	0.17	0.39382	D	0.966273	P;B;P	0.43231	0.547;0.02;0.801	B;B;B	0.38156	0.117;0.043;0.266	T	0.29243	-1.0018	10	0.13470	T	0.59	-19.7492	13.1671	0.59577	0.0728:0.0:0.9272:0.0	.	477;303;505	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	T	505;368;496;505;477	ENSP00000372228:A505T;ENSP00000261632:A496T;ENSP00000323580:A505T;ENSP00000437719:A477T	ENSP00000323580:A505T	A	+	1	0	IFT88	20110570	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.208000	0.72165	2.710000	0.92621	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	1	0	1	94	438	0	85	1	9.559237e-01	5	21	0	85	2		0	0	0	0	0	2	1	1	93	435	0	84	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
N6AMT2	221143	broad.mit.edu	37	13	21303256	21303256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21303256T>C	ENST00000382758.1	-	5	655	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)			7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)			ATAATTCACATAACAGCGAAA	0.463000																								0							SO:0001583	missense			ENST00000382758.1	1	1	hg19	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737635	0.69304	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.54279	0.58;0.58	5.86	4.66	0.58398	.	0.124958	0.56097	D	0.000029	T	0.59500	0.2198	M	0.82323	2.585	0.80722	D	1	B	0.27997	0.197	B	0.34242	0.178	T	0.60424	-0.7266	10	0.54805	T	0.06	.	12.3921	0.55364	0.1262:0.0:0.0:0.8737	.	203	Q8WVE0	N6MT2_HUMAN	C	203	ENSP00000372206:Y203C;ENSP00000372202:Y203C	ENSP00000372202:Y203C	Y	-	2	0	N6AMT2	20201256	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	4.848000	0.62874	1.025000	0.39708	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	1	0	1	135	770	0	207	1	9.931488e-01	15	30	0	207	2		0	0	0	0	0	2	1	1	133	760	0	205	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPO4	64328	broad.mit.edu	37	13	21383304	21383304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383304G>A	ENST00000255305.6	-	11	1482	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.R471*			Q9C0E2	XPO4_HUMAN	exportin 4	p.R444*(1)		41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)			AACTGGTCTCGATCATCCTCT	0.428000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000255305.6	0	1	hg19	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147225	0.97324	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-5.4271	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	471;341;471	.	ENSP00000255305:R471X	R	-	1	2	XPO4	20281304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.016000	0.49607	2.885000	0.99019	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	1	0	0	61	404	0	84	1	9.149470e-01	2	28	0	84	2		0	0	0	0	0	2	1	1	59	395	0	83	2								-3.142728	1	1	120852	2	29	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999876	0.990000	1	9.900000e-01	1
XPO4	64328	broad.mit.edu	37	13	21383952	21383952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383952G>A	ENST00000255305.6	-	10	1399	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V	XPO4_ENST00000400602.2_Missense_Mutation_p.A443V			Q9C0E2	XPO4_HUMAN	exportin 4			41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)			GCCATCTGGAGCAGCTAGGTG	0.343000																								0							SO:0001583	missense			ENST00000255305.6	1	1	hg19	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382149	0.82792	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.47869	0.83;0.83	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	L	0.55481	1.735	0.80722	D	1	B	0.28880	0.226	B	0.29524	0.103	T	0.34054	-0.9844	10	0.16420	T	0.52	-23.9262	20.4434	0.99119	0.0:0.0:1.0:0.0	.	443	Q9C0E2	XPO4_HUMAN	V	443;313;443	ENSP00000383444:A443V;ENSP00000255305:A443V	ENSP00000255305:A443V	A	-	2	0	XPO4	20281952	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.406000	0.97321	2.838000	0.97847	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	1	0	1	21	143	0	44	1	9.407478e-01	2	33	0	44	2		0	0	0	0	0	2	1	9.999981e-01	20	141	0	44	2								-11.524570	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.860000	1.000000	1.000000	0.991280	0.990000	1	9.900000e-01	1
LATS2	26524	broad.mit.edu	37	13	21549149	21549149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21549149G>A	ENST00000382592.4	-	8	3532	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2			45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)			AAGAACCTTCGGAAGGTGAAT	0.512000																								0							SO:0001587	stop_gained			ENST00000382592.4	0	1	hg19	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	40	7.991726	0.98599	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	6.07	5.16	0.70880	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1398	0.89636	0.0:0.0:0.8719:0.1281	.	.	.	.	X	1043	.	ENSP00000372035:R1043X	R	-	1	2	LATS2	20447149	1.000000	0.71417	0.998000	0.56505	0.048000	0.14542	6.238000	0.72350	2.885000	0.99019	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	1	0	1	98	554	0	113	1	1	30	144	0	113	2		0	0	0	0	0	2	1	1	96	541	0	111	2								-2.523174	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LATS2	26524	broad.mit.edu	37	13	21562824	21562824	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21562824G>T	ENST00000382592.4	-	4	1500	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Silent_p.T365T	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2			45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)			GCTGGACGGAGGTGCTGCCCA	0.726000																								0							SO:0001819	synonymous_variant			ENST00000382592.4	1	1	hg19	CCDS9294.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	1	0	0	25	214	0	35	1	5.534769e-01	2	15	0	35	2		0	0	0	0	0	2	1	9.999999e-01	25	210	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.770000	1.000000	1.000000	0.974692	0.990000	1	9.400000e-01	1
SAP18	10284	broad.mit.edu	37	13	21720978	21720978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21720978G>A	ENST00000607003.1	+	3	249	c.217G>A	c.(217-219)Gta>Ata	p.V73I	SAP18_ENST00000382533.4_Missense_Mutation_p.V92I			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa			6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)			GACAAGCTTAGTAAAAGAAGT	0.343000																								0							SO:0001583	missense			ENST00000607003.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719292|2.719292	0.48728|0.48728	.|.	.|.	ENSG00000150459|ENSG00000150459	ENST00000450573|ENST00000382533	.|.	.|.	.|.	5.72|5.72	4.88|4.88	0.63580|0.63580	.|.	.|0.051574	.|0.85682	.|D	.|0.000000	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.32211	.|0.142	T|T	0.49380|0.49380	-0.8946|-0.8946	5|9	.|0.25751	.|T	.|0.34	-27.8251|-27.8251	14.9155|14.9155	0.70792|0.70792	0.0689:0.0:0.9311:0.0|0.0689:0.0:0.9311:0.0	.|.	.|73	.|O00422	.|SAP18_HUMAN	N|I	86|92	.|.	.|ENSP00000371973:V92I	S|V	+|+	2|1	0|0	SAP18|SAP18	20618978|20618978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.614000|9.614000	0.98353|0.98353	1.424000|1.424000	0.47217|0.47217	0.555000|0.555000	0.69702|0.69702	AGT|GTA		TCGA-IB-7651-01A-11D-2154-08	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	1	0	1	58	284	0	69	1	1	265	796	0	69	2		0	0	0	0	0	2	1	1	58	282	0	69	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SKA3	221150	broad.mit.edu	37	13	21729846	21729846	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21729846G>A	ENST00000314759.5	-	8	1348	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3			19					TTTCTTTGTTGCTGACATCTC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000314759.5	1	1	hg19	CCDS31946.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	1	0	0	67	552	0	116	0	4.234069e-01	1	12	0	116	2		0	0	0	0	0	2	1	1	65	504	0	111	2								-19.990990	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.940000	1.000000	1.000000	0.997023	0.990000	1	9.900000e-01	1
SKA3	221150	broad.mit.edu	37	13	21732194	21732194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21732194G>A	ENST00000314759.5	-	7	1110	c.986C>T	c.(985-987)tCg>tTg	p.S329L	SKA3_ENST00000400018.3_Missense_Mutation_p.S329L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3			19					TAAAACCAACGAAGTACGATC	0.333000																								0							SO:0001583	missense			ENST00000314759.5	1	1	hg19	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440333	0.43326	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.28454	1.62;1.61	5.98	5.98	0.97165	.	0.247257	0.39274	N	0.001409	T	0.48537	0.1505	L	0.47716	1.5	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.917;0.939	T	0.37753	-0.9692	10	0.49607	T	0.09	-1.2477	17.1559	0.86791	0.0:0.0:1.0:0.0	.	329;329	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	L	329	ENSP00000319417:S329L;ENSP00000382896:S329L	ENSP00000319417:S329L	S	-	2	0	SKA3	20630194	0.561000	0.26578	0.010000	0.14722	0.026000	0.11368	3.939000	0.56591	2.837000	0.97791	0.591000	0.81541	TCG		TCGA-IB-7651-01A-11D-2154-08	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	1	0	0	49	470	0	108	1	3.221559e-01	2	10	0	108	2		0	0	0	0	0	2	1	1	48	459	0	108	2								-15.099740	1	1	121412	6	41	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.790000	1.000000	1.000000	0.969520	0.990000	1	9.100000e-01	1
SACS	26278	broad.mit.edu	37	13	23904672	23904672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23904672C>T	ENST00000382292.3	-	9	13616	c.13343G>A	c.(13342-13344)cGc>cAc	p.R4448H	SACS_ENST00000402364.1_Missense_Mutation_p.R3698H|SACS_ENST00000382298.3_Missense_Mutation_p.R4448H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			TAGCCATCTGCGTGCTTCCAC	0.468000																								0							SO:0001583	missense			ENST00000382292.3	1	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325834	0.60743	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-2.13;-2.13;-2.13	5.85	5.85	0.93711	HEPN (1);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	L	0.38175	1.15	0.54753	D	0.999985	D	0.89917	1.0	D	0.76071	0.987	D	0.91393	0.5137	10	0.72032	D	0.01	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	4448	Q9NZJ4	SACS_HUMAN	H	4448;3698;4448	ENSP00000371729:R4448H;ENSP00000385844:R3698H;ENSP00000371735:R4448H	ENSP00000371729:R4448H	R	-	2	0	SACS	22802672	1.000000	0.71417	0.063000	0.19743	0.063000	0.16089	5.920000	0.70017	2.767000	0.95098	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	1	88	581	0	114	0	8.576309e-01	1	24	0	114	2		0	0	0	0	0	2	1	1	86	567	0	112	2								-20.000000	1	1	121412	1	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23905023	23905023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905023C>T	ENST00000382292.3	-	9	13265	c.12992G>A	c.(12991-12993)cGg>cAg	p.R4331Q	SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q|SACS_ENST00000382298.3_Missense_Mutation_p.R4331Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			CAAATACAACCGCCTAATAAT	0.353000																								0							SO:0001583	missense			ENST00000382292.3	1	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	33	5.263552	0.95399	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.83335	-1.71;-1.71;-1.71	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	L	0.39397	1.21	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.88950	0.3386	10	0.87932	D	0	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	4331	Q9NZJ4	SACS_HUMAN	Q	4331;3581;4331	ENSP00000371729:R4331Q;ENSP00000385844:R3581Q;ENSP00000371735:R4331Q	ENSP00000371729:R4331Q	R	-	2	0	SACS	22803023	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.814000	0.86154	2.746000	0.94184	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1	131	846	0	172	1	9.696939e-01	7	31	0	172	2		0	0	0	0	0	2	1	1	129	831	0	171	2								-3.221884	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23905812	23905812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905812C>A	ENST00000382292.3	-	9	12476	c.12203G>T	c.(12202-12204)aGc>aTc	p.S4068I	SACS_ENST00000402364.1_Missense_Mutation_p.S3318I|SACS_ENST00000382298.3_Missense_Mutation_p.S4068I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			TTCACTTCTGCTGTGGGGAAT	0.353000																								0							SO:0001583	missense			ENST00000382292.3	1	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335478	0.81801	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89552	-2.38;-2.53;-2.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	L	0.29908	0.895	0.58432	D	0.999999	D	0.71674	0.998	D	0.64687	0.928	D	0.92305	0.5853	10	0.87932	D	0	.	18.9676	0.92702	0.0:1.0:0.0:0.0	.	4068	Q9NZJ4	SACS_HUMAN	I	4068;3318;4068	ENSP00000371729:S4068I;ENSP00000385844:S3318I;ENSP00000371735:S4068I	ENSP00000371729:S4068I	S	-	2	0	SACS	22803812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.754000	0.85163	2.462000	0.83206	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1	59	223	0	58	1	9.490696e-01	3	18	0	58	2		0	0	0	0	0	2	1	1	58	220	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23910147	23910147	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910147C>A	ENST00000382292.3	-	9	8141	c.7868G>T	c.(7867-7869)gGa>gTa	p.G2623V	SACS_ENST00000402364.1_Missense_Mutation_p.G1873V|SACS_ENST00000382298.3_Missense_Mutation_p.G2623V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			GAATCCTATTCCATACTGTCC	0.388000																								0							SO:0001583	missense			ENST00000382292.3	1	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943189	0.73672	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.99818	-6.92;-6.92;-6.92	5.5	5.5	0.81552	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96931	0.9681	10	0.87932	D	0	.	19.3858	0.94555	0.0:1.0:0.0:0.0	.	2623	Q9NZJ4	SACS_HUMAN	V	2623;1873;2623	ENSP00000371729:G2623V;ENSP00000385844:G1873V;ENSP00000371735:G2623V	ENSP00000371729:G2623V	G	-	2	0	SACS	22808147	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.487000	0.81328	2.590000	0.87494	0.462000	0.41574	GGA		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1	79	379	0	92	1	6.843602e-01	5	8	0	92	2		0	0	0	0	0	2	1	1	78	370	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23910802	23910802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910802C>A	ENST00000382292.3	-	9	7486	c.7213G>T	c.(7213-7215)Gaa>Taa	p.E2405*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*|SACS_ENST00000382298.3_Nonsense_Mutation_p.E2405*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			TCAATAGATTCCAAAACAAGA	0.363000																								0							SO:0001587	stop_gained			ENST00000382292.3	0	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	56	26.674665	0.99969	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.73	5.73	0.89815	.	0.108347	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	.	.	.	X	2405;1655;2405	.	ENSP00000371729:E2405X	E	-	1	0	SACS	22808802	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.599000	0.61076	2.722000	0.93159	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1	35	163	0	42	0	4.977538e-01	1	8	0	42	2		0	0	0	0	0	2	1	1	34	161	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999914	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23911291	23911291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23911291C>T	ENST00000382292.3	-	9	6997	c.6724G>A	c.(6724-6726)Gca>Aca	p.A2242T	SACS_ENST00000402364.1_Missense_Mutation_p.A1492T|SACS_ENST00000382298.3_Missense_Mutation_p.A2242T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			AGGTCAGTTGCTGCAAACATG	0.373000																								0							SO:0001583	missense			ENST00000382292.3	1	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995804	0.74703	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88509	-2.24;-2.39;-2.24	5.75	5.75	0.90469	.	0.055383	0.64402	D	0.000001	D	0.92100	0.7496	M	0.61703	1.905	0.48696	D	0.999694	D	0.59357	0.985	P	0.53518	0.728	D	0.92488	0.5998	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	2242	Q9NZJ4	SACS_HUMAN	T	2242;1492;2242	ENSP00000371729:A2242T;ENSP00000385844:A1492T;ENSP00000371735:A2242T	ENSP00000371729:A2242T	A	-	1	0	SACS	22809291	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.584000	0.67490	2.706000	0.92434	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1	47	222	0	67	1	6.921700e-01	3	10	0	67	2		0	0	0	0	0	2	1	1	46	217	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23912282	23912282	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23912282C>T	ENST00000382292.3	-	9	6006	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	SACS_ENST00000402364.1_Silent_p.T1161T|SACS_ENST00000382298.3_Silent_p.T1911T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			GTCTCATGAACGTGGTATTCC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000382292.3	0	1	hg19	CCDS9300.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	0	7	337	0	68	0	1.889000e-02	0	9	0	68	2		0	0	0	0	0	2	1	9.794108e-01	7	330	0	68	2								-7.149184	1	0	121412	2	32	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.230000	0.100000	0.440000	0.220000	0.253976	0.230000	0	1.600000e-01	3.400000e-01
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23915088C>T	ENST00000382292.3	-	9	3200	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000402364.1_Missense_Mutation_p.R226H|SACS_ENST00000382298.3_Missense_Mutation_p.R976H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			GTTTGCCAGACGAATAGTAGC	0.348000																								0							SO:0001583	missense			ENST00000382292.3	1	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	34	5.356014	0.95854	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.61533	0.89	D	0.89568	0.3811	10	0.39692	T	0.17	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	976	Q9NZJ4	SACS_HUMAN	H	976;226;976	ENSP00000371729:R976H;ENSP00000385844:R226H;ENSP00000371735:R976H	ENSP00000371729:R976H	R	-	2	0	SACS	22813088	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.783000	0.68982	2.878000	0.98634	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1	63	296	0	95	0	4.272570e-01	1	7	0	95	2		0	0	0	0	0	2	1	1	62	293	0	95	2								-20.000000	1	1	121412	5	38	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23929330	23929330	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929330C>T	ENST00000382292.3	-	7	1694	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.R474H|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			TATGCTCCTGCGGTTATCAGT	0.483000																								0							SO:0001583	missense			ENST00000382292.3	0	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	33	5.251455	0.95305	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.19669	2.13;2.13;2.13	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.88310	2.945	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.63166	-0.6698	10	0.87932	D	0	.	19.9404	0.97159	0.0:1.0:0.0:0.0	.	373;261;474	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	H	474;474;98	ENSP00000371729:R474H;ENSP00000371735:R474H;ENSP00000390925:R98H	ENSP00000371729:R474H	R	-	2	0	SACS	22827330	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.788000	0.95919	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	0	7	280	0	58	0	1.277928e-01	0	22	0	58	2		0	0	0	0	0	2	1	9.797148e-01	7	275	0	58	2								-3.404834	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.280000	0.120000	0.520000	0.270000	0.302862	0.280000	0	1.900000e-01	4.000000e-01
SACS	26278	broad.mit.edu	37	13	23929587	23929587	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929587C>A	ENST00000382292.3	-	7	1437	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.Q388H|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			AAGATGTTTTCTGTGCATCCT	0.383000																								0							SO:0001583	missense			ENST00000382292.3	1	1	hg19	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.373|9.373	1.071071|1.071071	0.20147|0.20147	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000455470|ENST00000382292;ENST00000382298;ENST00000423156	.|D;D;T	.|0.87029	.|-2.2;-2.2;-1.13	5.72|5.72	-4.06|-4.06	0.03986|0.03986	.|.	.|0.339875	.|0.31872	.|N	.|0.006940	.|D	.|0.86167	.|0.5868	M|M	0.62723|0.62723	1.935|1.935	0.20764|0.20764	N|N	0.999855|0.999855	.|P;B;B	.|0.51057	.|0.941;0.129;0.007	.|P;B;B	.|0.53809	.|0.735;0.138;0.031	.|T	.|0.81057	.|-0.1105	.|10	.|0.54805	.|T	.|0.06	.|.	8.6511|8.6511	0.34035|0.34035	0.0:0.3169:0.1801:0.503|0.0:0.3169:0.1801:0.503	.|.	.|287;175;388	.|B2REB1;E9PAL4;Q9NZJ4	.|.;.;SACS_HUMAN	X|H	288|388;388;12	.|ENSP00000371729:Q388H;ENSP00000371735:Q388H;ENSP00000390925:Q12H	.|ENSP00000371729:Q388H	E|Q	-|-	1|3	0|2	SACS|SACS	22827587|22827587	0.276000|0.276000	0.24211|0.24211	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.005000|-0.005000	0.12855|0.12855	-0.905000|-0.905000	0.03871|0.03871	-0.786000|-0.786000	0.03341|0.03341	GAA|CAG		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	1	57	341	0	87	1	7.518784e-01	6	12	0	87	2		0	0	0	0	0	2	1	1	56	338	0	86	2								-3.319630	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23929960	23929960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929960C>T	ENST00000382292.3	-	7	1064	c.791G>A	c.(790-792)gGc>gAc	p.G264D	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Missense_Mutation_p.G264D|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	p.G117D(1)|p.G264D(1)		189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			TGGAAAATTGCCGTTTATAAA	0.388000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000382292.3	1	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342613	0.61073	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	D;D	0.91407	-2.84;-2.84	5.94	5.1	0.69264	ATPase-like, ATP-binding domain (2);	0.110179	0.64402	D	0.000010	D	0.92668	0.7670	L	0.47716	1.5	0.45490	D	0.998454	D;B;B	0.56968	0.978;0.147;0.173	P;B;B	0.61397	0.888;0.138;0.068	D	0.91868	0.5505	10	0.36615	T	0.2	.	17.0221	0.86436	0.0:0.8658:0.1342:0.0	.	163;51;264	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	D	264	ENSP00000371729:G264D;ENSP00000371735:G264D	ENSP00000371729:G264D	G	-	2	0	SACS	22827960	1.000000	0.71417	0.649000	0.29536	0.772000	0.43724	5.028000	0.64115	1.506000	0.48736	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	1	0	1	86	340	0	79	1	8.831295e-01	5	12	0	79	2		0	0	0	0	0	2	1	1	84	334	0	78	2								-3.673000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SACS	26278	broad.mit.edu	37	13	23932601	23932601	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23932601G>A	ENST00000382292.3	-	6	750	c.477C>T	c.(475-477)taC>taT	p.Y159Y	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Silent_p.Y159Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone			189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			CCGCGTTGTTGTACACATAGA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000382292.3	1	1	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	7.069	0.567935	0.13560	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.74	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1814	0.65577	0.0712:0.0:0.9288:0.0	.	.	.	.	X	59	.	.	Q	-	1	0	SACS	22830601	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.463000	0.53050	2.715000	0.92844	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	0	0	78	516	1	100	1	4.830927e-01	2	10	1	100	2		0	0	0	0	0	2	1	1	78	510	1	99	20								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
TNFRSF19	55504	broad.mit.edu	37	13	24190110	24190110	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24190110C>T	ENST00000382258.4	+	4	489	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000248484.4_Silent_p.C95C|TNFRSF19_ENST00000382263.3_Silent_p.C95C	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19			22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			GTCTGGACTGCGCAGTGGTGA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000382258.4	1	1	hg19	CCDS9302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	0	0	1	47	303	1	76	1	5.551432e-01	3	18	1	76	3		0	0	0	0	0	2	1	9.999901e-01	47	300	1	75	16								-19.906430	1	1	121412	2	36	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999663	0.990000	1	9.900000e-01	1
TNFRSF19	55504	broad.mit.edu	37	13	24200923	24200923	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24200923A>C	ENST00000382258.4	+	5	641	c.437A>C	c.(436-438)gAa>gCa	p.E146A	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.E146A	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19			22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			CCTCCTTACGAACCGCACTGT	0.468000																								0							SO:0001583	missense			ENST00000382258.4	1	1	hg19	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209581	0.58343	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.79475	2.455	0.47214	D	0.999354	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.987	T	0.54563	-0.8275	10	0.48119	T	0.1	-26.9284	15.3132	0.74053	1.0:0.0:0.0:0.0	.	14;146;146	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	A	146;14;146;146	ENSP00000248484:E146A;ENSP00000385408:E14A;ENSP00000371693:E146A;ENSP00000371698:E146A	ENSP00000248484:E146A	E	+	2	0	TNFRSF19	23098923	1.000000	0.71417	0.966000	0.40874	0.081000	0.17604	7.651000	0.83577	2.108000	0.64289	0.477000	0.44152	GAA		TCGA-IB-7651-01A-11D-2154-08	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	0	0	1	28	197	0	41	0	3.704594e-01	0	10	0	41	2		0	0	0	0	0	2	1	1	27	195	0	41	2								-20.000000	1	1	121412	1	28	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.910000	1.000000	1.000000	0.994814	0.990000	1	9.900000e-01	1
TNFRSF19	55504	broad.mit.edu	37	13	24242173	24242173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24242173C>T	ENST00000382258.4	+	8	995	c.791C>T	c.(790-792)cCg>cTg	p.P264L	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.P264L	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19			22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			AGCCCCAACCCGGCGACTCTT	0.557000																								0							SO:0001583	missense			ENST00000382258.4	1	1	hg19	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066955	0.36470	2.27E-4	0.0	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.76709	-1.04;1.54;-1.04;-1.04	5.71	-1.91	0.07641	.	1.309070	0.04834	N	0.439242	T	0.62429	0.2427	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24920	0.003;0.114;0.114	B;B;B	0.15052	0.0;0.012;0.012	T	0.52215	-0.8605	10	0.56958	D	0.05	-4.2253	6.0373	0.19714	0.5379:0.2781:0.184:0.0	.	132;264;264	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	L	264;132;264;264	ENSP00000248484:P264L;ENSP00000385408:P132L;ENSP00000371693:P264L;ENSP00000371698:P264L	ENSP00000248484:P264L	P	+	2	0	TNFRSF19	23140173	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	0.440000	0.21592	-0.097000	0.12307	-0.128000	0.14901	CCG		TCGA-IB-7651-01A-11D-2154-08	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	1	0	1	13	58	0	16	0	7.197491e-01	1	12	0	16	2		0	0	0	0	0	2	1	9.997073e-01	13	58	0	16	2								-10.575180	1	1	121386	9	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.890000	1.000000	1.000000	0.993644	0.990000	1	9.900000e-01	1
TNFRSF19	55504	broad.mit.edu	37	13	24243246	24243246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24243246C>T	ENST00000382258.4	+	9	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_ENST00000403372.2_Intron|TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000382263.3_Intron	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19			22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			GGTAAGGCAGCGACTGGGTTC	0.493000																								0							SO:0001587	stop_gained			ENST00000382258.4	0	1	hg19	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089515	0.55968	0.0	2.33E-4	ENSG00000127863	ENST00000382258	.	.	.	4.87	-7.61	0.01299	.	2.738200	0.02019	N	0.047642	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8221	11.7108	0.51625	0.0:0.631:0.1263:0.2426	.	.	.	.	X	419	.	.	R	+	1	2	TNFRSF19	23141246	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.506000	0.02271	-1.276000	0.02414	-0.302000	0.09304	CGA		TCGA-IB-7651-01A-11D-2154-08	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	1	0	1	22	171	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	9.999990e-01	22	168	0	52	2								-20.000000	1	1	121412	9	38	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.800000	1.000000	1.000000	0.983056	0.990000	1	9.800000e-01	1
C1QTNF9B	387911	broad.mit.edu	37	13	24465977	24465977	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24465977C>T	ENST00000382140.2	-	5	513	c.453G>A	c.(451-453)ccG>ccA	p.P151P	C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|MIPEP_ENST00000382172.3_5'Flank|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382137.3_Silent_p.P151P			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	p.P151P(1)		6					CCATGGGGCCCGGTAAACCAG	0.642000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000382140.2	1	1	hg19	CCDS31947.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	1	0	0	25	248	0	50	0	1.054813e-01	0	6	0	50	2		0	0	0	0	0	2	1	9.999991e-01	23	210	0	58	2								-2.774726	1	1	121244	78	43	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.680000	1.000000	1.000000	0.938660	0.990000	1	8.300000e-01	1
C1QTNF9B	387911	broad.mit.edu	37	13	24471055	24471055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471055C>A	ENST00000382140.2	-	3	131	c.71G>T	c.(70-72)aGg>aTg	p.R24M	C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R24M			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B			6					GTGCCCTTGCCTGCAGGTGTC	0.542000																								0							SO:0001583	missense			ENST00000382140.2	0	1	hg19	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	11.34	1.610796	0.28712	.	.	ENSG00000205863	ENST00000382145;ENST00000382137;ENST00000382140;ENST00000382057	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	3.99	3.14	0.36123	.	0.224693	0.36854	N	0.002374	D	0.84070	0.5391	N	0.04203	-0.255	0.32070	N	0.594517	P;P	0.45827	0.467;0.867	B;P	0.44946	0.386;0.465	D	0.84365	0.0540	10	0.54805	T	0.06	.	6.4274	0.21778	0.0:0.6345:0.2554:0.11	.	24;24	B2RNN3;B2RNN3-2	C1T9B_HUMAN;.	M	24	ENSP00000371580:R24M;ENSP00000371572:R24M;ENSP00000371575:R24M;ENSP00000371489:R24M	ENSP00000371489:R24M	R	-	2	0	C1QTNF9B	23369055	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	1.586000	0.36611	0.683000	0.31428	0.298000	0.19748	AGG		TCGA-IB-7651-01A-11D-2154-08	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	0	0	0	36	421	0	85	0	0	0	1	0	85	2		0	0	0	0	0	2	1	1	35	407	0	123	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.870000	0.620000	1.000000	1.000000	0.871283	0.870000	1	7.400000e-01	1
C1QTNF9B	387911	broad.mit.edu	37	13	24471132	24471132	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471132G>T	ENST00000382140.2	-	0	54				C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382145.1_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382137.3_De_novo_Start_OutOfFrame			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B			6					TCATGGTTCAGATGACAGACT	0.527000																								0											ENST00000382140.2	0	1	hg19	CCDS31947.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	0	0	0	13	323	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	9.995309e-01	13	319	0	71	2								-13.672650	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.430000	0.240000	0.690000	0.430000	0.454755	0.430000	0	3.300000e-01	5.700000e-01
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	rs146807462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K|AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9			9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)			CCTGTATAACGAATTCAACCA	0.428000																								0							SO:0001583	missense			ENST00000382071.2	1	1	hg19	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	3.525	-0.097032	0.07010	0.0	3.49E-4	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93906	-3.31;-3.31	3.96	3.1	0.35709	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.666605	0.15858	N	0.241198	D	0.90246	0.6950	L	0.60845	1.875	0.09310	N	1	B	0.20780	0.048	B	0.18263	0.021	T	0.82639	-0.0358	10	0.42905	T	0.14	.	10.001	0.41929	0.1676:0.0:0.8324:0.0	.	230	P0C862	C1T9A_HUMAN	K	230	ENSP00000371503:E230K;ENSP00000333737:E230K	ENSP00000333737:E230K	E	+	1	0	C1QTNF9	23793592	0.001000	0.12720	0.026000	0.17262	0.238000	0.25445	0.911000	0.28584	2.180000	0.69256	0.430000	0.28490	GAA		TCGA-IB-7651-01A-11D-2154-08	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	0	0	1	118	553	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	1	112	530	0	154	2								-4.534325	1	1	121412	36	49	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP4	143	broad.mit.edu	37	13	25008755	25008755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25008755G>A	ENST00000381989.3	-	31	4629	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4			63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)			GACTTCCTTCGAGACTGCCTA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000381989.3	0	1	hg19	CCDS9307.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	0	0	1	50	280	1	69	1	9.999996e-01	103	283	1	69	18		0	0	0	0	0	2	1	9.999978e-01	48	279	1	69	16								-2.972463	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
PARP4	143	broad.mit.edu	37	13	25068788	25068788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068788G>A	ENST00000381989.3	-	7	769	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4			63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)			TGTTTCTTCAGTTCTTCAATG	0.323000																								0							SO:0001819	synonymous_variant			ENST00000381989.3	1	1	hg19	CCDS9307.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	1	0	1	66	209	0	44	1	1	66	127	0	44	2		0	0	0	0	0	2	1	1	63	205	0	44	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP4	143	broad.mit.edu	37	13	25068831	25068831	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068831G>A	ENST00000381989.3	-	7	726	c.621C>T	c.(619-621)acC>acT	p.T207T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4			63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)			CATCTTCAGAGGTTTTCTTTA	0.313000																								0							SO:0001819	synonymous_variant			ENST00000381989.3	0	1	hg19	CCDS9307.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	0	0	0	6	274	0	38	1	9.174237e-01	9	197	0	38	2		0	0	0	0	0	2	1	9.617530e-01	5	266	0	37	2								-3.032020	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.250000	0.100000	0.480000	0.240000	0.271419	0.250000	0	1.600000e-01	3.700000e-01
ATP12A	479	broad.mit.edu	37	13	25264578	25264578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264578G>A	ENST00000381946.3	+	6	816	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ATP12A_ENST00000218548.6_Missense_Mutation_p.D217N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide			74		Lung SC(185;0.0225)|Breast(139;0.077)			GATCCCTGCAGACATCAGGGT	0.577000													Pancreas(156;1582 1935 18898 22665 26498)											0							SO:0001583	missense			ENST00000381946.3	1	1	hg19	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024448	0.93518	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99042	-5.36;-5.36	4.73	4.73	0.59995	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.99708	0.9888	H	0.99962	5.075	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.92	D	0.96736	0.9543	10	0.87932	D	0	.	15.2818	0.73790	0.0:0.0:1.0:0.0	.	217;217	P54707-2;P54707	.;AT12A_HUMAN	N	217	ENSP00000218548:D217N;ENSP00000371372:D217N	ENSP00000218548:D217N	D	+	1	0	ATP12A	24162578	1.000000	0.71417	0.985000	0.45067	0.945000	0.59286	9.371000	0.97162	2.445000	0.82738	0.643000	0.83706	GAC		TCGA-IB-7651-01A-11D-2154-08	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	1	72	387	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	68	375	0	78	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ATP12A	479	broad.mit.edu	37	13	25268581	25268581	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25268581G>T	ENST00000381946.3	+	11	1544		c.e11-1		ATP12A_ENST00000218548.6_Splice_Site			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide			74		Lung SC(185;0.0225)|Breast(139;0.077)			TTGATTCCCAGAAAGCTGTGA	0.403000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Pancreas(156;1582 1935 18898 22665 26498)											0							SO:0001630	splice_region_variant			ENST00000381946.3	1	1	hg19	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768356	0.69878	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0052	0.86391	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP12A	24166581	1.000000	0.71417	0.963000	0.40424	0.755000	0.42902	9.199000	0.95003	2.620000	0.88729	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	1	112	622	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	110	606	0	111	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP12A	479	broad.mit.edu	37	13	25281487	25281487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25281487C>T	ENST00000381946.3	+	17	2576	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	ATP12A_ENST00000218548.6_Silent_p.C809C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide			74		Lung SC(185;0.0225)|Breast(139;0.077)			CCGAGCTGTGCCCCTTTCTGA	0.488000													Pancreas(156;1582 1935 18898 22665 26498)											0							SO:0001819	synonymous_variant			ENST00000381946.3	1	1	hg19	CCDS31948.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	0	120	645	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	1	118	631	0	157	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF17	56163	broad.mit.edu	37	13	25338442	25338442	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25338442G>T	ENST00000255324.5	+	1	153	c.101G>T	c.(100-102)aGg>aTg	p.R34M	RNF17_ENST00000255325.6_Missense_Mutation_p.R34M|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.R34M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17			36		Lung SC(185;0.0225)|Breast(139;0.077)			CAGTGCACCAGGTGTGGAAGG	0.642000																								0							SO:0001583	missense			ENST00000255324.5	0	1	hg19	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717879	0.48622	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85339	-1.97;-1.97;-1.97	4.4	2.67	0.31697	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.577385	0.14554	N	0.312493	D	0.83069	0.5174	L	0.27053	0.805	0.21445	N	0.99968	P;P;D	0.67145	0.877;0.877;0.996	B;B;P	0.59288	0.436;0.436;0.855	T	0.71938	-0.4441	10	0.72032	D	0.01	.	6.4691	0.21997	0.2226:0.0:0.7774:0.0	.	34;34;34	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	M	34	ENSP00000255324:R34M;ENSP00000371346:R34M;ENSP00000255325:R34M	ENSP00000255324:R34M	R	+	2	0	RNF17	24236442	0.004000	0.15560	0.415000	0.26534	0.096000	0.18686	0.281000	0.18810	0.502000	0.28037	0.511000	0.50034	AGG		TCGA-IB-7651-01A-11D-2154-08	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	0	0	0	5	148	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	9.318225e-01	5	142	0	24	2								-7.843325	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.380000	0.140000	0.760000	0.350000	0.414393	0.380000	0	2.400000e-01	5.700000e-01
RNF17	56163	broad.mit.edu	37	13	25418028	25418028	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25418028A>C	ENST00000255324.5	+	20	2802	c.2750A>C	c.(2749-2751)gAa>gCa	p.E917A	RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E917A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17			36		Lung SC(185;0.0225)|Breast(139;0.077)			TATAATAAGGAATTGCCTGTG	0.294000																								0							SO:0001583	missense			ENST00000255324.5	1	1	hg19	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352430	0.61293	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.09630	2.96;2.96;2.96	4.72	4.72	0.59763	Maternal tudor protein (1);	0.323633	0.29172	N	0.012927	T	0.15869	0.0382	N	0.17082	0.46	0.80722	D	1	D;P;D	0.89917	1.0;0.93;1.0	D;P;D	0.87578	0.998;0.636;0.995	T	0.17930	-1.0353	10	0.18710	T	0.47	-21.1896	12.0966	0.53758	1.0:0.0:0.0:0.0	.	917;917;917	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	A	917;917;776;241	ENSP00000255324:E917A;ENSP00000371346:E917A;ENSP00000388892:E241A	ENSP00000255324:E917A	E	+	2	0	RNF17	24316028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.209000	0.65208	2.113000	0.64589	0.482000	0.46254	GAA		TCGA-IB-7651-01A-11D-2154-08	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	1	0	1	42	184	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	42	182	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
RNF17	56163	broad.mit.edu	37	13	25425606	25425606	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25425606A>C	ENST00000255324.5	+	24	3269	c.3217A>C	c.(3217-3219)Aca>Cca	p.T1073P	RNF17_ENST00000339524.3_Missense_Mutation_p.T125P|RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17			36		Lung SC(185;0.0225)|Breast(139;0.077)			AAACAACACAACATGGCCATT	0.343000																								0							SO:0001583	missense			ENST00000255324.5	1	1	hg19	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236299	0.39498	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.22134	3.54;3.54;2.78;1.97	4.51	4.51	0.55191	.	0.617926	0.14370	N	0.323835	T	0.24084	0.0583	L	0.54323	1.7	0.41967	D	0.990735	P;P;P;P	0.47191	0.627;0.694;0.891;0.883	B;B;P;B	0.48227	0.188;0.296;0.571;0.368	T	0.03148	-1.1067	10	0.27785	T	0.31	-1.914	5.5124	0.16888	0.6527:0.177:0.0:0.1703	.	1069;125;1073;1073	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	P	1073;1073;932;397;125	ENSP00000255324:T1073P;ENSP00000371346:T1073P;ENSP00000388892:T397P;ENSP00000344776:T125P	ENSP00000255324:T1073P	T	+	1	0	RNF17	24323606	0.036000	0.19791	0.746000	0.31095	0.752000	0.42762	0.614000	0.24314	2.002000	0.58637	0.482000	0.46254	ACA		TCGA-IB-7651-01A-11D-2154-08	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	1	0	1	47	208	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	46	203	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
CENPJ	55835	broad.mit.edu	37	13	25463468	25463468	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25463468T>A	ENST00000381884.4	-	11	3472	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	CENPJ_ENST00000545981.1_Intron	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J			47		Lung SC(185;0.0225)|Breast(139;0.0602)			CATTGGAAGATAATTTTTCTT	0.274000																								0							SO:0001583	missense			ENST00000381884.4	1	1	hg19	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.995|8.995	0.978707|0.978707	0.18812|0.18812	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000418179|ENST00000381884;ENST00000445729	.|T	.|0.34275	.|1.37	4.82|4.82	1.03|1.03	0.20045|0.20045	.|.	.|0.589219	.|0.16585	.|N	.|0.208016	T|T	0.25901|0.25901	0.0631|0.0631	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.31931	.|0.302;0.347	.|B;B	.|0.32864	.|0.154;0.047	T|T	0.20974|0.20974	-1.0259|-1.0259	5|10	.|0.10111	.|T	.|0.7	.|.	3.9018|3.9018	0.09164|0.09164	0.0:0.1924:0.1845:0.623|0.0:0.1924:0.1845:0.623	.|.	.|177;1096	.|Q5T6R6;Q9HC77	.|.;CENPJ_HUMAN	F|F	177|1096	.|ENSP00000371308:Y1096F	.|ENSP00000371308:Y1096F	L|Y	-|-	3|2	2|0	CENPJ|CENPJ	24361468|24361468	0.359000|0.359000	0.24955|0.24955	0.082000|0.082000	0.20525|0.20525	0.293000|0.293000	0.27360|0.27360	0.300000|0.300000	0.19156|0.19156	0.097000|0.097000	0.17492|0.17492	0.450000|0.450000	0.29827|0.29827	TTA|TAT		TCGA-IB-7651-01A-11D-2154-08	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	1	0	1	80	464	0	88	1	5.924430e-01	2	11	0	88	2		0	0	0	0	0	2	1	1	78	451	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PABPC3	5042	broad.mit.edu	37	13	25671076	25671076	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671076C>A	ENST00000281589.3	+	1	777	c.740C>A	c.(739-741)gCt>gAt	p.A247D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3			47		Lung SC(185;0.0225)|Breast(139;0.0602)			GCACAGAAAGCTGTAGATGAG	0.423000																								0							SO:0001583	missense			ENST00000281589.3	1	1	hg19	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106558	0.37145	.	.	ENSG00000151846	ENST00000281589	T	0.38077	1.16	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.46758	U	0.000270	T	0.70718	0.3256	H	0.99325	4.515	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.74355	-0.3692	10	0.87932	D	0	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	247	Q9H361	PABP3_HUMAN	D	247	ENSP00000281589:A247D	ENSP00000281589:A247D	A	+	2	0	PABPC3	24569076	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	5.305000	0.65750	0.759000	0.33084	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	1	88	385	0	102	0	3.542680e-02	0	2	0	102	2		0	0	0	0	0	2	1	1	88	373	0	102	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PABPC3	5042	broad.mit.edu	37	13	25671625	25671625	+	Missense_Mutation	SNP	G	G	A	rs150466188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671625G>A	ENST00000281589.3	+	1	1326	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3			47		Lung SC(185;0.0225)|Breast(139;0.0602)			CCAAGTCCTCGCTGGACTGCT	0.512000																								0							SO:0001583	missense			ENST00000281589.3	1	1	hg19	CCDS9311.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	10.73	1.431968	0.25813	0.002497	1.16E-4	ENSG00000151846	ENST00000281589	T	0.30182	1.54	0.664	0.664	0.17890	.	0.428123	0.18857	U	0.129224	T	0.20373	0.0490	M	0.71206	2.165	0.36017	D	0.838447	B	0.26195	0.144	B	0.21708	0.036	T	0.14952	-1.0454	10	0.34782	T	0.22	.	7.0697	0.25171	1.0E-4:0.0:0.9999:0.0	.	430	Q9H361	PABP3_HUMAN	H	430	ENSP00000281589:R430H	ENSP00000281589:R430H	R	+	2	0	PABPC3	24569625	1.000000	0.71417	0.701000	0.30321	0.012000	0.07955	3.832000	0.55783	0.593000	0.29745	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	1	126	709	0	173	0	6.226171e-02	0	3	0	173	2		0	0	0	0	0	2	1	1	123	697	0	170	2								-7.169548	1	1	121412	30	51	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PABPC3	5042	broad.mit.edu	37	13	25671992	25671992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671992G>T	ENST00000281589.3	+	1	1693	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3			47		Lung SC(185;0.0225)|Breast(139;0.0602)			CTCCTCAAAAGCAAAAGCAAA	0.453000																								0							SO:0001583	missense			ENST00000281589.3	1	1	hg19	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	2.798	-0.249807	0.05867	.	.	ENSG00000151846	ENST00000281589	T	0.46819	0.86	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.134314	0.30959	U	0.008532	T	0.24812	0.0602	N	0.11341	0.13	0.23831	N	0.996722	B	0.06786	0.001	B	0.14023	0.01	T	0.22871	-1.0204	10	0.59425	D	0.04	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	552	Q9H361	PABP3_HUMAN	N	552	ENSP00000281589:K552N	ENSP00000281589:K552N	K	+	3	2	PABPC3	24569992	1.000000	0.71417	0.986000	0.45419	0.024000	0.10985	1.190000	0.32126	0.759000	0.33084	0.313000	0.20887	AAG		TCGA-IB-7651-01A-11D-2154-08	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	1	80	410	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	79	401	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PABPC3	5042	broad.mit.edu	37	13	25672226	25672226	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25672226T>G	ENST00000281589.3	+	1	1927	c.1890T>G	c.(1888-1890)acT>acG	p.T630T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3			47		Lung SC(185;0.0225)|Breast(139;0.0602)			GTGTTCCAACTGTTTAAAATT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000281589.3	1	1	hg19	CCDS9311.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	1	0	1	119	482	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1	119	478	0	138	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR6	9107	broad.mit.edu	37	13	25831394	25831394	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25831394C>A	ENST00000381801.5	-	9	1796	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H	MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H|MTMR6_ENST00000482345.1_5'Flank	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6			36		Lung SC(185;0.0225)|Breast(139;0.0351)			GGGAACAAACCTGGGAAGTCC	0.398000																								0							SO:0001583	missense			ENST00000381801.5	1	1	hg19	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550865	0.65311	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91577	-2.87;-2.87	5.49	0.0117	0.14088	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94571	0.7771	10	0.87932	D	0	.	8.9037	0.35510	0.0:0.248:0.0:0.752	.	345;345	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	H	345	ENSP00000443161:Q345H;ENSP00000371221:Q345H	ENSP00000371221:Q345H	Q	-	3	2	MTMR6	24729394	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	0.789000	0.26886	0.035000	0.15519	-0.145000	0.13849	CAG		TCGA-IB-7651-01A-11D-2154-08	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	1	0	1	36	145	0	37	1	9.999935e-01	14	65	0	37	2		0	0	0	0	0	2	1	1	36	143	0	37	2								-3.535965	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
NUPL1	9818	broad.mit.edu	37	13	25912815	25912815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25912815G>A	ENST00000381736.3	+	15	1826	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1			16		Lung SC(185;0.0225)|Breast(139;0.0351)			CACCACAGGGGCCTCCACATT	0.403000													Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)											0							SO:0001583	missense			ENST00000381736.3	1	1	hg19	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108680	0.77096	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.32753	1.44;1.51	5.65	3.92	0.45320	.	0.306795	0.36778	N	0.002417	T	0.22936	0.0554	L	0.38531	1.155	0.37791	D	0.927377	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.08659	-1.0711	10	0.66056	D	0.02	-3.7116	7.1388	0.25543	0.1416:0.0:0.72:0.1384	.	514;526	A6NI12;Q9BVL2	.;NUPL1_HUMAN	T	526;503;514	ENSP00000371155:A526T;ENSP00000371137:A514T	ENSP00000318459:A503T	A	+	1	0	NUPL1	24810815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.325000	0.33724	0.754000	0.32968	0.558000	0.71614	GCC		TCGA-IB-7651-01A-11D-2154-08	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2	1	0	1	57	442	0	104	1	9.988775e-01	10	70	0	104	2		0	0	0	0	0	2	1	1	57	427	0	103	2								-19.840200	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.970000	1.000000	1.000000	0.998138	0.990000	1	9.900000e-01	1
RNF6	6049	broad.mit.edu	37	13	26788516	26788516	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26788516A>C	ENST00000381588.4	-	5	2255	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.D501E	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6			23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)			CTGACTCAGAATCGGCCTCCA	0.458000																								0							SO:0001583	missense			ENST00000381588.4	1	1	hg19	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	A	1.620	-0.521653	0.04171	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.15487	3.05;3.05;3.05;2.42	4.64	0.627	0.17675	.	0.058299	0.64402	N	0.000002	T	0.03178	0.0093	N	0.01146	-0.985	0.19945	N	0.999943	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34551	-0.9824	10	0.05525	T	0.97	-10.5683	1.0214	0.01519	0.1494:0.1914:0.1526:0.5066	.	145;501	B4DDP0;Q9Y252	.;RNF6_HUMAN	E	501;501;501;145	ENSP00000342121:D501E;ENSP00000371000:D501E;ENSP00000370982:D501E;ENSP00000382665:D145E	ENSP00000342121:D501E	D	-	3	2	RNF6	25686516	0.997000	0.39634	0.853000	0.33588	0.872000	0.50106	0.373000	0.20484	0.031000	0.15407	-0.399000	0.06403	GAT		TCGA-IB-7651-01A-11D-2154-08	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	1	0	1	58	288	0	64	1	9.999998e-01	33	84	0	64	2		0	0	0	0	0	2	1	1	57	282	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CDK8	1024	broad.mit.edu	37	13	26828901	26828901	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26828901A>C	ENST00000381527.3	+	1	626	c.123A>C	c.(121-123)aaA>aaC	p.K41N	CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8			25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)			CCAAGAGGAAAGATGGGTGAG	0.667000																								0							SO:0001583	missense			ENST00000381527.3	0	1	hg19	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125293	0.77436	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66995	-0.24;-0.24	5.25	1.14	0.20703	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050124	0.85682	D	0.000000	T	0.72930	0.3522	L	0.53617	1.68	0.58432	D	0.999999	D;D	0.63046	0.991;0.992	P;D	0.66351	0.905;0.943	T	0.72117	-0.4387	10	0.87932	D	0	-8.8879	9.6921	0.40134	0.6975:0.0:0.3025:0.0	.	41;41	P49336-2;P49336	.;CDK8_HUMAN	N	41	ENSP00000370938:K41N;ENSP00000437696:K41N	ENSP00000370938:K41N	K	+	3	2	CDK8	25726901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	0.245000	0.21373	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1	1	0	0	24	141	0	16	1	9.718057e-01	9	28	0	16	2		0	0	0	0	0	2	1	9.999998e-01	24	140	0	16	2								-13.594610	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.960000	1.000000	1.000000	0.997470	0.990000	1	9.900000e-01	1
CDK8	1024	broad.mit.edu	37	13	26923286	26923286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923286G>A	ENST00000381527.3	+	3	785	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8			25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)			GGAAGGTGTGGCTTCTGTTTG	0.413000																								0							SO:0001587	stop_gained			ENST00000381527.3	0	1	hg19	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441608	0.96187	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	.	.	.	4.97	4.97	0.65823	.	0.059337	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.1766	18.2519	0.90006	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000370938:W94X	W	+	3	0	CDK8	25821286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.304000	0.77564	0.467000	0.42956	TGG		TCGA-IB-7651-01A-11D-2154-08	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1	0	0	1	120	618	0	177	1	9.981827e-01	11	39	0	177	2		0	0	0	0	0	2	1	1	118	603	0	177	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK8	1024	broad.mit.edu	37	13	26923313	26923313	+	Silent	SNP	C	C	T	rs67269290		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923313C>T	ENST00000381527.3	+	3	812	c.309C>T	c.(307-309)gaC>gaT	p.D103D	CDK8_ENST00000536792.1_Silent_p.D103D	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8			25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)			CTGAACATGACCTCTGGGTAA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000381527.3	1	1	hg19	CCDS9317.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1	0	0	0	27	603	0	166	0	6.122931e-01	1	46	0	166	2		0	0	0	0	0	2	1	9.999999e-01	26	592	0	166	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.470000	0.320000	0.670000	0.480000	0.491076	0.470000	0	3.900000e-01	5.800000e-01
WASF3	10810	broad.mit.edu	37	13	27255212	27255212	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27255212G>A	ENST00000335327.5	+	8	916	c.738G>A	c.(736-738)acG>acA	p.T246T	WASF3_ENST00000361042.4_Silent_p.T243T	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3			22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)			CGGACGTTACGGATTACTCTT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000335327.5	1	1	hg19	CCDS9318.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1	1	0	1	140	625	0	138	0	9.486549e-01	1	23	0	138	2		0	0	0	0	0	2	1	1	140	608	0	136	2								-2.501730	1	1	121412	5	40	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR12	2835	broad.mit.edu	37	13	27333552	27333552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333552C>T	ENST00000381436.2	-	1	875	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GPR12_ENST00000405846.3_Missense_Mutation_p.R138H			P47775	GPR12_HUMAN	G protein-coupled receptor 12			33	Colorectal(5;5.77e-05)	Breast(139;0.198)			TGAGAGGTAGCGGTCAACAGT	0.552000																								0							SO:0001583	missense			ENST00000381436.2	1	1	hg19	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992314	0.93167	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	D;D	0.97161	-4.27;-4.27	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99094	1.0841	10	0.87932	D	0	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	138	P47775	GPR12_HUMAN	H	138	ENSP00000384932:R138H;ENSP00000370844:R138H	ENSP00000370844:R138H	R	-	2	0	GPR12	26231552	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2	1	0	1	67	279	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	67	271	0	77	2								-3.367650	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR12	2835	broad.mit.edu	37	13	27333952	27333952	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333952G>A	ENST00000381436.2	-	1	475	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	GPR12_ENST00000405846.3_Silent_p.L5L			P47775	GPR12_HUMAN	G protein-coupled receptor 12			33	Colorectal(5;5.77e-05)	Breast(139;0.198)			TTGACCTTCAGGTCTTCATTC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000381436.2	1	1	hg19	CCDS9319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2	1	0	1	58	272	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	58	266	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
USP12	219333	broad.mit.edu	37	13	27643438	27643438	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27643438G>T	ENST00000282344.6	-	9	1351	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12			17		Lung SC(185;0.0161)			GAGACTGATAGAAAAGGATGT	0.398000													Ovarian(37;808 911 7590 44442 44991)											0							SO:0001583	missense			ENST00000282344.6	1	1	hg19	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844601	0.71488	.	.	ENSG00000152484	ENST00000282344	T	0.39056	1.1	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69614	-0.5098	10	0.72032	D	0.01	-14.351	19.4565	0.94892	0.0:0.0:1.0:0.0	.	365	O75317	UBP12_HUMAN	L	365	ENSP00000282344:F365L	ENSP00000282344:F365L	F	-	3	2	USP12	26541438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.682000	0.91365	0.650000	0.86243	TTC		TCGA-IB-7651-01A-11D-2154-08	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	1	0	1	39	362	0	98	1	9.915942e-01	12	59	0	98	2		0	0	0	0	0	2	1	1	38	359	0	98	2								-3.142702	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.780000	1.000000	1.000000	0.972113	0.990000	1	9.200000e-01	1
USP12	219333	broad.mit.edu	37	13	27645271	27645271	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27645271G>A	ENST00000282344.6	-	8	1204	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12			17		Lung SC(185;0.0161)			CAATATAATGGCCTCGATTGG	0.274000													Ovarian(37;808 911 7590 44442 44991)											0							SO:0001819	synonymous_variant			ENST00000282344.6	1	1	hg19	CCDS31952.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	1	0	0	19	212	0	51	1	9.619717e-01	10	53	0	51	2		0	0	0	0	0	2	1	9.999891e-01	19	203	0	51	2								-19.999980	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.910000	0.570000	1.000000	1.000000	0.881113	0.910000	1	7.300000e-01	1
RPL21	6144	broad.mit.edu	37	13	27829420	27829420	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27829420C>T	ENST00000311549.6	+	4	460	c.171C>T	c.(169-171)taC>taT	p.Y57Y	SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000326092.4_Silent_p.Y57Y|RPL21_ENST00000319826.4_Silent_p.Y57Y|RPL21_ENST00000272274.4_Silent_p.Y57Y|SNORA27_ENST00000384323.1_RNA	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21			2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)		ACAAGTGTTACCATGGCAAAA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000311549.6	1	1	hg19	CCDS9320.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	1	0	1	66	256	0	57	1	1	77	581	0	57	2		0	0	0	0	0	2	1	1	66	253	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDX1	3651	broad.mit.edu	37	13	28498408	28498408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28498408C>T	ENST00000381033.4	+	2	541	c.422C>T	c.(421-423)gCg>gTg	p.A141V	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1				all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)		GCCTACGCTGCGGAGCCGGAG	0.687000																								0							SO:0001583	missense			ENST00000381033.4	1	1	hg19	CCDS9327.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795312	0.16327	.	.	ENSG00000139515	ENST00000381033	D	0.95622	-3.76	5.01	2.85	0.33270	Homeodomain-related (1);Homeodomain-like (1);	0.225794	0.45867	N	0.000321	T	0.78991	0.4371	N	0.01048	-1.04	0.38873	D	0.956732	B	0.10296	0.003	B	0.06405	0.002	T	0.74028	-0.3796	10	0.02654	T	1	.	4.2161	0.10535	0.0:0.5026:0.0:0.4974	.	141	P52945	PDX1_HUMAN	V	141	ENSP00000370421:A141V	ENSP00000370421:A141V	A	+	2	0	PDX1	27396408	0.756000	0.28383	0.178000	0.23040	0.490000	0.33462	1.051000	0.30417	1.232000	0.43678	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2	1	0	0	26	104	0	21	1	9.444260e-01	13	9	0	21	2		0	0	0	0	0	2	1	1	26	101	0	21	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999776	0.990000	1	9.900000e-01	1
FLT3	2322	broad.mit.edu	37	13	28602336	28602336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28602336G>T	ENST00000241453.7	-	16	2113	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	FLT3_ENST00000380982.4_Missense_Mutation_p.L678M|FLT3_ENST00000537084.1_Missense_Mutation_p.L678M	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3			12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACGCCCCCAGCAGGTTCACA	0.473000			Mis, O		AML, ALL										Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0							SO:0001583	missense			ENST00000241453.7	1	1	hg19	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141517	0.57044	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.90563	-2.69;-2.69;-2.69	5.71	3.66	0.41972	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.92485	0.7614	L	0.45285	1.41	0.50171	D	0.999856	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.92867	0.6311	10	0.87932	D	0	.	12.2545	0.54617	0.2053:0.0:0.7947:0.0	.	678;678	P36888-2;P36888	.;FLT3_HUMAN	M	678	ENSP00000241453:L678M;ENSP00000370369:L678M;ENSP00000438139:L678M	ENSP00000241453:L678M	L	-	1	2	FLT3	27500336	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	2.265000	0.43311	1.410000	0.46936	0.555000	0.69702	CTG		TCGA-IB-7651-01A-11D-2154-08	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2	1	0	1	44	163	0	37	0	5.373822e-01	0	8	0	37	2		0	0	0	0	0	2	1	1	44	161	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FLT3	2322	broad.mit.edu	37	13	28609635	28609635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28609635G>A	ENST00000241453.7	-	12	1675	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	FLT3_ENST00000380982.4_Missense_Mutation_p.P532S|FLT3_ENST00000537084.1_Missense_Mutation_p.P532S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3			12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTACCTGGAGAGTTTAAA	0.438000			Mis, O		AML, ALL										Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0							SO:0001583	missense			ENST00000241453.7	1	1	hg19	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	6.860	0.528006	0.13127	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77877	-1.06;-1.13;-0.83	5.18	0.272	0.15645	.	0.509728	0.19645	N	0.109344	T	0.50650	0.1628	N	0.24115	0.695	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.30851	-0.9964	10	0.05620	T	0.96	.	0.5181	0.00607	0.3086:0.1247:0.3114:0.2554	.	532;532	P36888-2;P36888	.;FLT3_HUMAN	S	532	ENSP00000241453:P532S;ENSP00000370369:P532S;ENSP00000438139:P532S	ENSP00000241453:P532S	P	-	1	0	FLT3	27507635	0.000000	0.05858	0.041000	0.18516	0.370000	0.29829	-0.630000	0.05502	-0.207000	0.10187	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2	1	0	1	75	296	0	80	0	5.060073e-01	1	7	0	80	2		0	0	0	0	0	2	1	1	74	293	0	80	2								-3.500919	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAN3	255967	broad.mit.edu	37	13	28844994	28844994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28844994G>T	ENST00000380958.3	+	13	2101	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	PAN3_ENST00000282391.5_Missense_Mutation_p.G338V|PAN3_ENST00000399613.1_Missense_Mutation_p.G450V	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit			24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)		CTGATAACTGGCAAAACAAGG	0.363000																								0							SO:0001583	missense			ENST00000380958.3	1	1	hg19	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809788	0.90707	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.42131	0.98;0.98;0.98	5.42	5.42	0.78866	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043637	0.85682	D	0.000000	T	0.64897	0.2640	M	0.77103	2.36	0.80722	D	1	D;D;P;D	0.63880	0.975;0.968;0.904;0.993	P;P;P;P	0.61533	0.848;0.732;0.463;0.89	T	0.65681	-0.6109	10	0.49607	T	0.09	-7.5491	19.5822	0.95471	0.0:0.0:1.0:0.0	.	650;650;338;596	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	V	650;450;338	ENSP00000370345:G650V;ENSP00000382522:G450V;ENSP00000282391:G338V	ENSP00000282391:G338V	G	+	2	0	PAN3	27742994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.704000	0.92352	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	1	0	1	86	602	0	151	1	9.906011e-01	8	44	0	151	2		0	0	0	0	0	2	1	1	85	594	0	151	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
FLT1	2321	broad.mit.edu	37	13	28901672	28901672	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28901672A>C	ENST00000282397.4	-	20	2974	c.2723T>G	c.(2722-2724)aTt>aGt	p.I908S	FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1			115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTATTCAACAATCACCATCAG	0.458000																								0							SO:0001583	missense			ENST00000282397.4	1	1	hg19	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515385	0.85389	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.86432	-2.12;-2.12	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95345	0.8441	10	0.87932	D	0	.	16.1412	0.81522	1.0:0.0:0.0:0.0	.	908	P17948	VGFR1_HUMAN	S	908;126	ENSP00000282397:I908S;ENSP00000443311:I126S	ENSP00000282397:I908S	I	-	2	0	FLT1	27799672	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.339000	0.96797	2.216000	0.71823	0.402000	0.26972	ATT		TCGA-IB-7651-01A-11D-2154-08	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1	1	0	1	32	161	0	43	0	9.929136e-01	0	42	0	43	2		0	0	0	0	0	2	1	1	31	156	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999743	0.990000	1	9.900000e-01	1
FLT1	2321	broad.mit.edu	37	13	28964088	28964088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28964088C>T	ENST00000282397.4	-	13	2065	c.1814G>A	c.(1813-1815)aGc>aAc	p.S605N	FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1			115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGCTTGCTAATACTGTA	0.418000																								0							SO:0001583	missense			ENST00000282397.4	1	1	hg19	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257874	0.39896	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.75938	-0.98;-0.42	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.545972	0.21229	N	0.078019	T	0.69682	0.3138	L	0.46157	1.445	0.80722	D	1	B;B;P	0.37594	0.077;0.029;0.601	B;B;B	0.36719	0.046;0.046;0.231	T	0.65582	-0.6133	10	0.22706	T	0.39	.	18.1336	0.89610	0.0:1.0:0.0:0.0	.	605;605;605	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	N	605	ENSP00000282397:S605N;ENSP00000437631:S605N	ENSP00000282397:S605N	S	-	2	0	FLT1	27862088	0.982000	0.34865	0.953000	0.39169	0.981000	0.71138	1.841000	0.39240	2.880000	0.98712	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1	0	0	0	28	682	0	159	0	9.754102e-01	0	146	0	159	2		0	0	0	0	0	2	1	1	28	667	0	158	2								-4.170379	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.440000	0.290000	0.610000	0.440000	0.452019	0.440000	0	3.600000e-01	5.300000e-01
SLC46A3	283537	broad.mit.edu	37	13	29287142	29287142	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287142A>G	ENST00000266943.6	-	3	1104	c.735T>C	c.(733-735)acT>acC	p.T245T	SLC46A3_ENST00000380814.4_Silent_p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3			15		Lung SC(185;0.0367)			AAAGCATGTAAGTTCGGTAAA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000266943.6	1	1	hg19	CCDS9332.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	1	0	1	31	132	0	43	1	1	15	152	0	43	2		0	0	0	0	0	2	1	1	31	132	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999894	0.990000	1	9.900000e-01	1
SLC46A3	283537	broad.mit.edu	37	13	29287292	29287292	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287292A>G	ENST00000266943.6	-	3	954	c.585T>C	c.(583-585)ggT>ggC	p.G195G	SLC46A3_ENST00000380814.4_Silent_p.G195G	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3			15		Lung SC(185;0.0367)			ACCACTCAAAACCTAGCTCTC	0.348000																								0							SO:0001819	synonymous_variant			ENST00000266943.6	1	1	hg19	CCDS9332.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	1	0	1	63	239	0	71	1	1	10	182	0	71	2		0	0	0	0	0	2	1	1	60	235	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTUS2	23281	broad.mit.edu	37	13	29599490	29599490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29599490A>G	ENST00000431530.3	+	1	743	c.685A>G	c.(685-687)Aca>Gca	p.T229A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2			20					GCCACAGAAGACATTGCCAGA	0.592000																								0							SO:0001583	missense			ENST00000431530.3	1	1	hg19	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	17.45	3.392520	0.62066	.	.	ENSG00000132938	ENST00000431530	T	0.14893	2.47	5.49	1.63	0.23807	.	0.382752	0.22018	N	0.065762	T	0.11367	0.0277	L	0.47716	1.5	0.09310	N	1	P	0.42296	0.775	B	0.38156	0.266	T	0.15723	-1.0427	9	.	.	.	.	2.0027	0.03471	0.5035:0.1441:0.0754:0.2771	.	219	Q5JR59	MTUS2_HUMAN	A	229	ENSP00000392057:T229A	.	T	+	1	0	MTUS2	28497490	0.581000	0.26741	0.002000	0.10522	0.369000	0.29798	1.212000	0.32394	0.332000	0.23536	0.459000	0.35465	ACA		TCGA-IB-7651-01A-11D-2154-08	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	1	0	1	56	191	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	55	190	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC7A1	6541	broad.mit.edu	37	13	30104741	30104741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30104741G>A	ENST00000380752.5	-	5	1024	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1			24		Lung SC(185;0.0257)|Breast(139;0.238)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTTTAACCGATCCTTTCAC	0.448000																								0							SO:0001583	missense			ENST00000380752.5	1	1	hg19	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905349	0.52333	.	.	ENSG00000139514	ENST00000380752	D	0.90004	-2.6	4.73	2.9	0.33743	Amino acid permease domain (1);	0.334522	0.35646	N	0.003073	D	0.89653	0.6777	L	0.61218	1.895	0.09310	N	0.999999	P	0.48230	0.907	P	0.49276	0.605	D	0.83567	0.0110	10	0.72032	D	0.01	.	14.0371	0.64651	0.0:0.2884:0.7116:0.0	.	213	P30825	CTR1_HUMAN	L	213	ENSP00000370128:S213L	ENSP00000370128:S213L	S	-	2	0	SLC7A1	29002741	1.000000	0.71417	0.037000	0.18230	0.596000	0.36781	4.254000	0.58798	0.651000	0.30788	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	1	0	1	124	576	0	135	1	1	60	92	0	135	2		0	0	0	0	0	2	1	1	124	569	0	132	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBL3	5412	broad.mit.edu	37	13	30341410	30341410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30341410A>C	ENST00000380680.4	-	5	1481	c.336T>G	c.(334-336)aaT>aaG	p.N112K		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3			4		Lung SC(185;0.0281)			TTACACAACAATTACTCTCTC	0.433000																								0							SO:0001583	missense			ENST00000380680.4	1	1	hg19	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089414	0.55968	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.6	-6.0	0.02206	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	N	0.08118	0	0.53688	D	0.999978	B	0.15141	0.012	B	0.14578	0.011	T	0.02533	-1.1145	9	0.27785	T	0.31	-9.8642	13.6483	0.62294	0.4808:0.0:0.5192:0.0	.	112	O95164	UBL3_HUMAN	K	112	.	ENSP00000370055:N112K	N	-	3	2	UBL3	29239410	1.000000	0.71417	0.503000	0.27626	0.995000	0.86356	0.770000	0.26618	-1.518000	0.01778	0.455000	0.32223	AAT		TCGA-IB-7651-01A-11D-2154-08	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	1	0	1	48	266	0	72	1	1	69	263	0	72	2		0	0	0	0	0	2	1	1	48	262	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999950	0.990000	1	9.900000e-01	1
KATNAL1	84056	broad.mit.edu	37	13	30815139	30815139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30815139C>T	ENST00000380615.3	-	5	744	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1			19		Lung SC(185;0.0257)			CTTTCAAGGGCTTCCACCAGA	0.383000																								0							SO:0001583	missense			ENST00000380615.3	1	1	hg19	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403286	0.11754	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94280	-3.39;-3.39	5.56	4.71	0.59529	.	0.244503	0.40385	N	0.001120	D	0.88171	0.6365	L	0.28740	0.885	0.50171	D	0.999854	B	0.16396	0.017	B	0.15484	0.013	T	0.83204	-0.0077	10	0.19590	T	0.45	-18.8873	14.5621	0.68148	0.0:0.9297:0.0:0.0703	.	193	Q9BW62	KATL1_HUMAN	T	193	ENSP00000369989:A193T;ENSP00000369991:A193T	ENSP00000369989:A193T	A	-	1	0	KATNAL1	29713139	0.851000	0.29673	0.665000	0.29768	0.996000	0.88848	1.757000	0.38400	1.356000	0.45884	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	1	0	1	65	398	0	87	0	9.339173e-01	1	29	0	87	2		0	0	0	0	0	2	1	1	65	395	0	87	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
USPL1	10208	broad.mit.edu	37	13	31205600	31205600	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31205600G>T	ENST00000255304.4	+	4	1199	c.857G>T	c.(856-858)aGt>aTt	p.S286I	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1			34		Lung SC(185;0.0257)|Breast(139;0.203)			AGTCAATTGAGTGGTGTTAAA	0.388000													Ovarian(60;318 1180 1554 28110 31601)											0							SO:0001583	missense			ENST00000255304.4	1	1	hg19	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	5.836	0.338550	0.11069	.	.	ENSG00000132952	ENST00000255304	T	0.45668	0.89	5.94	2.09	0.27110	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.861583	0.10458	N	0.672337	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	P	0.38420	0.63	B	0.37198	0.243	T	0.12066	-1.0562	10	0.66056	D	0.02	-7.2908	4.059	0.09829	0.4979:0.1821:0.3201:0.0	.	286	Q5W0Q7	USPL1_HUMAN	I	286	ENSP00000255304:S286I	ENSP00000255304:S286I	S	+	2	0	USPL1	30103600	0.017000	0.18338	0.007000	0.13788	0.016000	0.09150	0.586000	0.23894	0.517000	0.28361	-0.367000	0.07326	AGT		TCGA-IB-7651-01A-11D-2154-08	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	1	0	0	60	358	0	60	1	8.429685e-01	5	17	0	60	2		0	0	0	0	0	2	1	1	58	354	0	59	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
USPL1	10208	broad.mit.edu	37	13	31232400	31232400	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232400A>C	ENST00000255304.4	+	9	2528	c.2186A>C	c.(2185-2187)gAa>gCa	p.E729A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1			34		Lung SC(185;0.0257)|Breast(139;0.203)			AAGAAAAAAGAAACTACAGCA	0.363000													Ovarian(60;318 1180 1554 28110 31601)											0							SO:0001583	missense			ENST00000255304.4	1	1	hg19	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513919	0.27123	.	.	ENSG00000132952	ENST00000255304	T	0.15603	2.41	5.38	5.38	0.77491	.	0.683044	0.15114	N	0.279779	T	0.25717	0.0626	L	0.60455	1.87	0.09310	N	1	P	0.49559	0.925	P	0.47075	0.536	T	0.10222	-1.0639	10	0.41790	T	0.15	-18.7669	13.9512	0.64118	1.0:0.0:0.0:0.0	.	729	Q5W0Q7	USPL1_HUMAN	A	729	ENSP00000255304:E729A	ENSP00000255304:E729A	E	+	2	0	USPL1	30130400	0.910000	0.30920	0.140000	0.22221	0.121000	0.20230	5.665000	0.68052	2.040000	0.60383	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	1	0	1	95	364	0	89	1	9.995586e-01	12	34	0	89	2		0	0	0	0	0	2	1	1	94	360	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USPL1	10208	broad.mit.edu	37	13	31232733	31232733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232733C>T	ENST00000255304.4	+	9	2861	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1			34		Lung SC(185;0.0257)|Breast(139;0.203)			GGCACAGCTGCCCACCCACAT	0.507000													Ovarian(60;318 1180 1554 28110 31601)											0							SO:0001583	missense			ENST00000255304.4	1	1	hg19	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771724	0.31320	.	.	ENSG00000132952	ENST00000255304	T	0.15017	2.46	5.52	2.13	0.27403	.	1.346150	0.04664	N	0.409519	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	P	0.38078	0.617	B	0.37144	0.242	T	0.23726	-1.0180	10	0.40728	T	0.16	-1.4166	3.6569	0.08223	0.2388:0.4877:0.0:0.2735	.	840	Q5W0Q7	USPL1_HUMAN	V	840	ENSP00000255304:A840V	ENSP00000255304:A840V	A	+	2	0	USPL1	30130733	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.441000	0.06879	0.557000	0.29117	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	1	0	1	67	368	0	92	1	9.996743e-01	7	60	0	92	2		0	0	0	0	0	2	1	1	66	357	0	91	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
HSPH1	10808	broad.mit.edu	37	13	31724241	31724241	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31724241A>T	ENST00000320027.5	-	8	1331	c.987T>A	c.(985-987)caT>caA	p.H329Q	HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q|HSPH1_ENST00000380406.5_Missense_Mutation_p.H288Q|HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1			27		Lung SC(185;0.0257)			CTACTTTGAGATGAGTTTGTT	0.373000																								0							SO:0001583	missense			ENST00000320027.5	1	1	hg19	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	A	3.487	-0.104751	0.06967	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.68	0.836	0.18891	.	0.617569	0.17125	N	0.186070	T	0.10423	0.0255	N	0.02916	-0.46	0.23751	N	0.996945	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.0;0.004;0.0;0.001	T	0.18777	-1.0326	10	0.38643	T	0.18	-0.9598	3.3253	0.07064	0.1111:0.5268:0.1024:0.2596	.	148;288;331;329;329	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	Q	329;329;288;331;148;380	ENSP00000318687:H329Q;ENSP00000369768:H329Q;ENSP00000369769:H288Q;ENSP00000396090:H331Q;ENSP00000388778:H148Q	ENSP00000318687:H329Q	H	-	3	2	HSPH1	30622241	0.993000	0.37304	0.253000	0.24343	0.000000	0.00434	0.299000	0.19138	0.050000	0.15949	-1.263000	0.01449	CAT		TCGA-IB-7651-01A-11D-2154-08	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1	1	0	0	22	461	0	92	1	9.999810e-01	17	353	0	92	2		0	0	0	0	0	2	1	9.999986e-01	22	453	0	92	2								-4.728971	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.510000	0.320000	0.730000	0.500000	0.523908	0.510000	0	4.100000e-01	6.300000e-01
FRY	10129	broad.mit.edu	37	13	32722003	32722003	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32722003T>G	ENST00000380250.3	+	13	1807	c.1311T>G	c.(1309-1311)ctT>ctG	p.L437L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			TCACAACACTTTTCCCCAAAG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000380250.3	1	1	hg19	CCDS41875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1	82	408	0	107	0	8.692244e-01	1	19	0	107	2		0	0	0	0	0	2	1	1	78	392	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRY	10129	broad.mit.edu	37	13	32745346	32745346	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745346A>C	ENST00000380250.3	+	18	2586	c.2090A>C	c.(2089-2091)aAa>aCa	p.K697T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			ACCCAGTGGAAACTAGTCATC	0.418000																								0							SO:0001583	missense			ENST00000380250.3	0	1	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475064	0.63737	.	.	ENSG00000073910	ENST00000380250	T	0.26373	1.74	6.16	6.16	0.99307	.	0.095708	0.64402	D	0.000001	T	0.31295	0.0792	M	0.63843	1.955	0.80722	D	1	B	0.21606	0.058	B	0.30495	0.116	T	0.10520	-1.0626	10	0.14656	T	0.56	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	697	Q5TBA9	FRY_HUMAN	T	697	ENSP00000369600:K697T	ENSP00000369600:K697T	K	+	2	0	FRY	31643346	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.940000	0.56599	2.367000	0.80283	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	0	0	0	9	272	0	48	0	6.848827e-02	0	12	0	48	2		0	0	0	0	0	2	1	9.936365e-01	9	264	0	48	2								-10.297500	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.360000	0.180000	0.630000	0.350000	0.386402	0.360000	0	2.600000e-01	5.000000e-01
FRY	10129	broad.mit.edu	37	13	32747543	32747543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32747543C>T	ENST00000380250.3	+	19	2687	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			TCAGTCGGAACGAGGTCCCCA	0.448000																								0							SO:0001587	stop_gained			ENST00000380250.3	0	1	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	45	11.495109	0.99568	.	.	ENSG00000073910	ENST00000380250	.	.	.	5.75	3.84	0.44239	.	0.064498	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.018	0.71600	0.2216:0.7784:0.0:0.0	.	.	.	.	X	731	.	ENSP00000369600:R731X	R	+	1	2	FRY	31645543	0.894000	0.30519	0.967000	0.41034	0.999000	0.98932	1.229000	0.32600	2.708000	0.92522	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1	86	428	0	100	0	8.863114e-01	0	21	0	100	2		0	0	0	0	0	2	1	1	86	424	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRY	10129	broad.mit.edu	37	13	32768363	32768363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32768363C>T	ENST00000380250.3	+	29	4171	c.3675C>T	c.(3673-3675)gaC>gaT	p.D1225D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			GGGCAATTGACCGATGCTACA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000380250.3	1	1	hg19	CCDS41875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	0	0	1	73	398	0	93	0	6.637849e-01	0	14	0	93	2		0	0	0	0	0	2	1	1	71	395	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FRY	10129	broad.mit.edu	37	13	32783857	32783857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32783857C>A	ENST00000380250.3	+	33	4907	c.4411C>A	c.(4411-4413)Ctc>Atc	p.L1471I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			CGACACAGTTCTCCTACCCTA	0.488000																								0							SO:0001583	missense			ENST00000380250.3	1	1	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196285	0.78902	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.29917	1.55	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64262	-0.6449	10	0.66056	D	0.02	.	19.3545	0.94407	0.0:1.0:0.0:0.0	.	1471	Q5TBA9	FRY_HUMAN	I	1471;308	ENSP00000369600:L1471I	ENSP00000369600:L1471I	L	+	1	0	FRY	31681857	1.000000	0.71417	0.882000	0.34594	0.924000	0.55760	4.636000	0.61339	2.592000	0.87571	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1	58	254	0	69	0	9.737624e-01	0	28	0	69	2		0	0	0	0	0	2	1	1	57	252	0	69	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FRY	10129	broad.mit.edu	37	13	32852676	32852676	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32852676C>T	ENST00000380250.3	+	58	8956	c.8460C>T	c.(8458-8460)tcC>tcT	p.S2820S	FRY_ENST00000542859.1_Silent_p.S190S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			CAGGGGACTCCGAAGAAAAGG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000380250.3	1	1	hg19	CCDS41875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1	55	451	0	131	1	9.954446e-01	5	64	0	131	2		0	0	0	0	0	2	1	1	55	447	0	127	2								-2.308070	0	1	120800	2	40	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.920000	1.000000	1.000000	0.995571	0.990000	1	9.900000e-01	1
BRCA2	675	broad.mit.edu	37	13	32906448	32906448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32906448G>A	ENST00000380152.3	+	10	1066	c.833G>A	c.(832-834)aGc>aAc	p.S278N	BRCA2_ENST00000544455.1_Missense_Mutation_p.S278N			P51587	BRCA2_HUMAN	breast cancer 2, early onset			183		Lung SC(185;0.0262)			AAAGTAAATAGCTGCAAAGAC	0.289000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0							SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000380152.3	1	1	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464933	0.26335	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00808	5.67;5.67	5.74	2.66	0.31614	.	0.448251	0.24745	N	0.035951	T	0.00845	0.0028	L	0.29908	0.895	0.09310	N	1	B;B	0.25719	0.132;0.007	B;B	0.20184	0.028;0.008	T	0.49021	-0.8982	10	0.44086	T	0.13	.	5.4333	0.16466	0.273:0.153:0.574:0.0	.	278;278	P51587;A1YBP1	BRCA2_HUMAN;.	N	278;278;276	ENSP00000369497:S278N;ENSP00000439902:S278N	ENSP00000369497:S278N	S	+	2	0	BRCA2	31804448	0.000000	0.05858	0.011000	0.14972	0.815000	0.46073	0.286000	0.18902	0.784000	0.33661	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1	42	181	0	65	0	9.687056e-02	0	3	0	65	2	1	1	79	465	0	518	2	1	1	42	176	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
BRCA2	675	broad.mit.edu	37	13	32911541	32911541	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32911541A>T	ENST00000380152.3	+	11	3282	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F	BRCA2_ENST00000544455.1_Missense_Mutation_p.I1017F			P51587	BRCA2_HUMAN	breast cancer 2, early onset			183		Lung SC(185;0.0262)			AAATAAGGAAATCAAGCTCTC	0.323000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0							SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000380152.3	1	1	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132024	0.77662	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.77877	-1.13;-1.13	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	D	0.83571	0.5283	L	0.36672	1.1	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.85389	0.1124	10	0.87932	D	0	.	16.3468	0.83138	1.0:0.0:0.0:0.0	.	1017	P51587	BRCA2_HUMAN	F	1017	ENSP00000369497:I1017F;ENSP00000439902:I1017F	ENSP00000369497:I1017F	I	+	1	0	BRCA2	31809541	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.875000	0.75551	2.263000	0.75096	0.529000	0.55759	ATC		TCGA-IB-7651-01A-11D-2154-08	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1	53	216	0	50	0	1.043458e-01	0	3	0	50	2	1	1	42	303	0	298	2	1	1	52	211	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
BRCA2	675	broad.mit.edu	37	13	32912529	32912529	+	Missense_Mutation	SNP	C	C	A	rs80359421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32912529C>A	ENST00000380152.3	+	11	4270	c.4037C>A	c.(4036-4038)aCt>aAt	p.T1346N	BRCA2_ENST00000544455.1_Missense_Mutation_p.T1346N			P51587	BRCA2_HUMAN	breast cancer 2, early onset			183		Lung SC(185;0.0262)			AAAAATGATACTGTTTGTATT	0.328000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0		GRCh37	CD993687	BRCA2	D	rs80359421	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000380152.3	1	1	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	5.915	0.352859	0.11182	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00776	5.71;5.71	4.89	0.778	0.18543	.	0.716618	0.13593	N	0.376425	T	0.01765	0.0056	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.53912	0.737	T	0.47459	-0.9116	10	0.48119	T	0.1	.	2.8585	0.05579	0.3635:0.2964:0.256:0.0841	.	1346	P51587	BRCA2_HUMAN	N	1346	ENSP00000369497:T1346N;ENSP00000439902:T1346N	ENSP00000369497:T1346N	T	+	2	0	BRCA2	31810529	0.000000	0.05858	0.003000	0.11579	0.137000	0.21094	-0.224000	0.09164	0.307000	0.22880	-0.262000	0.10625	ACT		TCGA-IB-7651-01A-11D-2154-08	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1	46	167	0	52	0	1.237976e-01	1	2	0	52	2	1	9.999800e-01	15	48	0	50	2	1	1	46	164	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
BRCA2	675	broad.mit.edu	37	13	32913417	32913417	+	Missense_Mutation	SNP	A	A	C	rs80358718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913417A>C	ENST00000380152.3	+	11	5158	c.4925A>C	c.(4924-4926)aAt>aCt	p.N1642T	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1642T			P51587	BRCA2_HUMAN	breast cancer 2, early onset			183		Lung SC(185;0.0262)			GTACATGAAAATGTAGAAAAA	0.323000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0							SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000380152.3	1	1	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975053	0.34848	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00873	5.59;5.59	5.96	0.18	0.15068	.	0.582880	0.18290	N	0.145734	T	0.01124	0.0037	L	0.59436	1.845	0.09310	N	1	B	0.29909	0.261	B	0.20184	0.028	T	0.44143	-0.9347	10	0.52906	T	0.07	.	7.2658	0.26229	0.3915:0.3705:0.0:0.2381	.	1642	P51587	BRCA2_HUMAN	T	1642	ENSP00000369497:N1642T;ENSP00000439902:N1642T	ENSP00000369497:N1642T	N	+	2	0	BRCA2	31811417	0.219000	0.23619	0.013000	0.15412	0.989000	0.77384	1.041000	0.30291	0.105000	0.17753	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1	30	180	0	41	0	1.054323e-01	0	4	0	41	2	1	1	126	673	1	670	7	1	1	30	178	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.998743	0.990000	1	9.900000e-01	1
BRCA2	675	broad.mit.edu	37	13	32914727	32914727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32914727G>A	ENST00000380152.3	+	11	6468	c.6235G>A	c.(6235-6237)Gtg>Atg	p.V2079M	BRCA2_ENST00000544455.1_Missense_Mutation_p.V2079M			P51587	BRCA2_HUMAN	breast cancer 2, early onset			183		Lung SC(185;0.0262)			AGTTAAGGGAGTGTTAGAGGA	0.343000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0							SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000380152.3	1	1	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165768	0.01673	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75260	-0.92;-0.92	5.77	3.39	0.38822	.	0.200919	0.45606	N	0.000349	T	0.40247	0.1109	N	0.02539	-0.55	0.28309	N	0.922762	B	0.02656	0.0	B	0.06405	0.002	T	0.37888	-0.9686	10	0.02654	T	1	.	6.3144	0.21182	0.7241:0.1349:0.141:0.0	.	2079	P51587	BRCA2_HUMAN	M	2079	ENSP00000369497:V2079M;ENSP00000439902:V2079M	ENSP00000369497:V2079M	V	+	1	0	BRCA2	31812727	0.973000	0.33851	1.000000	0.80357	0.778000	0.44026	0.733000	0.26087	1.024000	0.39682	-0.312000	0.09012	GTG		TCGA-IB-7651-01A-11D-2154-08	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1	59	345	0	103	0	5.943999e-02	0	3	0	103	2	1	1	53	319	0	276	2	1	1	58	334	0	102	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
BRCA2	675	broad.mit.edu	37	13	32953972	32953972	+	Silent	SNP	T	T	C	rs80359736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32953972T>C	ENST00000380152.3	+	23	9272	c.9039T>C	c.(9037-9039)acT>acC	p.T3013T	BRCA2_ENST00000544455.1_Silent_p.T3013T			P51587	BRCA2_HUMAN	breast cancer 2, early onset			183		Lung SC(185;0.0262)			ATCTTGCAACTTCAAAATCTA	0.328000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0							SO:0001819	synonymous_variant	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000380152.3	1	1	hg19	CCDS9344.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	1	40	204	0	53	0	2.640148e-01	1	5	0	53	2	1	1	32	178	0	165	2	1	1	40	199	0	52	2								-19.963360	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999926	0.990000	1	9.900000e-01	1
N4BP2L2	10443	broad.mit.edu	37	13	33016813	33016813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33016813C>T	ENST00000504114.1	-	6	1907	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.E606K|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E621K			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2			16		Lung SC(185;0.0262)			GTCTGAGATTCGAAAGTCAAA	0.323000																								0							SO:0001583	missense			ENST00000504114.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.535	-0.855970	0.02630	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.13	-0.447	0.12234	.	1.638090	0.03096	N	0.160384	T	0.12390	0.0301	N	0.01705	-0.755	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.27054	-1.0085	9	0.02654	T	1	0.0064	4.7777	0.13187	0.0:0.171:0.3034:0.5257	.	606;621;504;504	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	K	504;533;606;606;621	.	ENSP00000350104:E606K	E	-	1	0	N4BP2L2;RP11-298P3.4	31914813	0.002000	0.14202	0.013000	0.15412	0.029000	0.11900	0.222000	0.17699	-0.297000	0.08934	-0.378000	0.06908	GAA		TCGA-IB-7651-01A-11D-2154-08	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	1	0	0	9	164	0	48	0	7.630078e-02	0	8	0	48	2		0	0	0	0	0	2	1	9.944537e-01	9	163	0	47	2								-11.841570	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.590000	0.290000	0.990000	1.000000	0.611976	0.590000	0	4.200000e-01	7.900000e-01
N4BP2L2	10443	broad.mit.edu	37	13	33017510	33017510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017510C>T	ENST00000504114.1	-	6	1210	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2			16		Lung SC(185;0.0262)			GTCCTGCAGGCCAGCTACCAA	0.423000																								0							SO:0001587	stop_gained			ENST00000504114.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	37	6.562807	0.97667	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.61	4.77	0.60923	.	0.509941	0.20334	N	0.094363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3345	12.0509	0.53505	0.0:0.9203:0.0:0.0797	.	.	.	.	X	271;300;373;373;388	.	.	W	-	3	0	N4BP2L2;RP11-298P3.4	31915510	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	1.719000	0.38011	1.368000	0.46115	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	1	0	0	44	314	0	73	0	4.341812e-02	0	3	0	73	2		0	0	0	0	0	2	1	1	42	312	0	73	2								-18.067570	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.998519	0.990000	1	9.900000e-01	1
N4BP2L2	10443	broad.mit.edu	37	13	33017909	33017909	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017909C>A	ENST00000504114.1	-	6	811	c.720G>T	c.(718-720)aaG>aaT	p.K240N	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.K240N|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K255N			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2			16		Lung SC(185;0.0262)			TATCACCTTCCTTAGAGAGGT	0.338000																								0							SO:0001583	missense			ENST00000504114.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.62	2.888745	0.52014	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.47869	0.83	5.34	-5.43	0.02632	.	3.025590	0.00718	N	0.000868	T	0.57359	0.2048	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.63880	0.985;0.985;0.993;0.985	P;P;P;P	0.59889	0.62;0.62;0.865;0.775	T	0.59963	-0.7355	10	0.34782	T	0.22	-6.4438	9.3972	0.38410	0.1187:0.1481:0.0:0.7332	.	240;255;138;138	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	N	138;167;240;240;255;684	ENSP00000423362:K684N	ENSP00000350104:K240N	K	-	3	2	N4BP2L2;RP11-298P3.4	31915909	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.012000	0.12699	-1.080000	0.03109	-0.140000	0.14226	AAG		TCGA-IB-7651-01A-11D-2154-08	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	1	0	0	5	88	0	25	0	1.567820e-01	0	11	0	25	2		0	0	0	0	0	2	1	9.375392e-01	5	87	0	24	2								-9.157009	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.610000	0.240000	1.000000	1.000000	0.638968	0.610000	0	4.000000e-01	8.900000e-01
PDS5B	23047	broad.mit.edu	37	13	33281111	33281111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33281111G>T	ENST00000315596.10	+	18	2083	c.1897G>T	c.(1897-1899)Gca>Tca	p.A633S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)			62		Lung SC(185;0.0367)			AGATGGAACAGCAGATGATGA	0.323000																								0							SO:0001583	missense			ENST00000315596.10	1	1	hg19	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028669	0.54790	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.70749	-0.51	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	N	0.20530	0.585	0.80722	D	1	B	0.19331	0.035	B	0.20184	0.028	T	0.54153	-0.8336	10	0.10902	T	0.67	-0.2668	20.3011	0.98612	0.0:0.0:1.0:0.0	.	633	Q9NTI5	PDS5B_HUMAN	S	633	ENSP00000313851:A633S	ENSP00000313851:A633S	A	+	1	0	PDS5B	32179111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.700000	0.98707	2.804000	0.96469	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	1	0	1	21	201	0	74	1	9.318116e-01	7	39	0	74	2		0	0	0	0	0	2	1	9.999977e-01	20	197	0	74	2								-8.722748	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.670000	1.000000	1.000000	0.943128	0.990000	1	8.400000e-01	1
KL	9365	broad.mit.edu	37	13	33591381	33591381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33591381C>T	ENST00000380099.3	+	1	811	c.803C>T	c.(802-804)gCg>gTg	p.A268V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho			41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)			TACCTGGTGGCGCACAACCTC	0.716000																								0							SO:0001583	missense			ENST00000380099.3	0	1	hg19	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976631	0.74360	.	.	ENSG00000133116	ENST00000380099	T	0.32023	1.47	4.55	4.55	0.56014	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.059433	0.64402	D	0.000004	T	0.49898	0.1584	L	0.59912	1.85	0.46564	D	0.999102	D	0.89917	1.0	D	0.72982	0.979	T	0.51419	-0.8708	10	0.72032	D	0.01	-19.0702	13.2771	0.60194	0.0:0.8408:0.1592:0.0	.	268	Q9UEF7	KLOT_HUMAN	V	268	ENSP00000369442:A268V	ENSP00000369442:A268V	A	+	2	0	KL	32489381	0.937000	0.31787	1.000000	0.80357	0.998000	0.95712	1.725000	0.38074	2.357000	0.79964	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1	1	0	0	11	55	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	9.988204e-01	11	55	0	14	2								-20.000000	1	0	117322	1	20	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.810000	1.000000	1.000000	0.986640	0.990000	1	9.900000e-01	1
KL	9365	broad.mit.edu	37	13	33635273	33635273	+	Missense_Mutation	SNP	C	C	T	rs141695559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33635273C>T	ENST00000380099.3	+	4	2065	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho			41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)			CTTTGGATAACGATGAATGAG	0.527000																								0							SO:0001583	missense			ENST00000380099.3	1	1	hg19	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862148	0.71949	0.0	2.33E-4	ENSG00000133116	ENST00000380099	T	0.58060	0.36	5.81	5.81	0.92471	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90088	0.4175	10	0.87932	D	0	-26.5349	20.0763	0.97746	0.0:1.0:0.0:0.0	.	686	Q9UEF7	KLOT_HUMAN	M	686	ENSP00000369442:T686M	ENSP00000369442:T686M	T	+	2	0	KL	32533273	1.000000	0.71417	0.964000	0.40570	0.410000	0.31052	7.686000	0.84128	2.756000	0.94617	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1	1	0	1	49	244	0	67	0	2.920293e-02	0	2	0	67	2		0	0	0	0	0	2	1	1	49	243	0	64	2								-20.000000	1	1	121412	3	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
NBEA	26960	broad.mit.edu	37	13	35615281	35615281	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35615281C>A	ENST00000400445.3	+	2	1040	c.506C>A	c.(505-507)gCt>gAt	p.A169D	NBEA_ENST00000310336.4_Missense_Mutation_p.A169D|NBEA_ENST00000540320.1_Missense_Mutation_p.A169D|NBEA_ENST00000379939.2_Missense_Mutation_p.A169D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin			108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)			AAAATGAGTGCTGTAGATGAC	0.348000																								0							SO:0001583	missense			ENST00000400445.3	1	1	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994515	0.54041	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.33	5.33	0.75918	.	0.134557	0.51477	D	0.000096	T	0.35307	0.0927	N	0.17474	0.49	0.80722	D	1	B	0.22276	0.067	B	0.17433	0.018	T	0.08391	-1.0724	10	0.30078	T	0.28	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	169	Q5T321	.	D	169	ENSP00000440951:A169D;ENSP00000383295:A169D;ENSP00000369271:A169D;ENSP00000308534:A169D	ENSP00000308534:A169D	A	+	2	0	NBEA	34513281	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	3.337000	0.52120	2.496000	0.84212	0.585000	0.79938	GCT		TCGA-IB-7651-01A-11D-2154-08	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	11	147	0	30	0	1.446664e-01	1	8	0	30	2		0	0	0	0	0	2	1	9.980988e-01	11	140	0	30	2								-15.389190	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.770000	0.420000	1.000000	1.000000	0.776817	0.770000	0	5.800000e-01	1
NBEA	26960	broad.mit.edu	37	13	35630181	35630181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35630181G>A	ENST00000400445.3	+	7	1541	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q|NBEA_ENST00000540320.1_Missense_Mutation_p.R336Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin			108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)			ATTTACAATCGATGGAGGAAC	0.308000																								0							SO:0001583	missense			ENST00000400445.3	1	1	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323043	0.95708	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.78117	0.4233	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79605	-0.1734	10	0.52906	T	0.07	.	18.0165	0.89242	0.0:0.0:1.0:0.0	.	336	Q5T321	.	Q	336	ENSP00000440951:R336Q;ENSP00000383295:R336Q;ENSP00000369271:R336Q;ENSP00000308534:R336Q	ENSP00000308534:R336Q	R	+	2	0	NBEA	34528181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.266000	0.75297	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	64	250	0	50	0	2.749927e-01	0	5	0	50	2		0	0	0	0	0	2	1	1	64	238	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAB21L1	4081	broad.mit.edu	37	13	36049526	36049526	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049526G>A	ENST00000379919.4	-	1	1306	c.750C>T	c.(748-750)tgC>tgT	p.C250C	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)			20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)			GGATGGAGAGGCACTTCTTTC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000379919.4	1	1	hg19	CCDS9353.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	0	0	0	70	458	0	106	0	1.816437e-02	0	2	0	106	2		0	0	0	0	0	2	1	1	70	448	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
MAB21L1	4081	broad.mit.edu	37	13	36050059	36050059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050059C>T	ENST00000379919.4	-	1	773	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	p.E73K(1)		20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)			ACTTCAAATTCGGTGGGGGAG	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000379919.4	1	1	hg19	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729709	0.89390	.	.	ENSG00000180660	ENST00000379919	T	0.11063	2.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	M	0.82323	2.585	0.80722	D	1	P	0.48230	0.907	P	0.47827	0.558	T	0.02901	-1.1096	10	0.54805	T	0.06	-0.5448	19.7375	0.96212	0.0:1.0:0.0:0.0	.	73	Q13394	MB211_HUMAN	K	73	ENSP00000369251:E73K	ENSP00000369251:E73K	E	-	1	0	MAB21L1	34948059	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	1	0	1	114	440	0	108	0	4.307506e-02	0	2	0	108	2		0	0	0	0	0	2	1	1	113	428	0	106	2								-20.000000	1	0	121412	2	35	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAB21L1	4081	broad.mit.edu	37	13	36050193	36050193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050193G>A	ENST00000379919.4	-	1	639	c.83C>T	c.(82-84)gCc>gTc	p.A28V	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)			20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)			GATAGTTTTGGCAATGGCAGC	0.507000																								0							SO:0001583	missense			ENST00000379919.4	1	1	hg19	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825485	0.50739	.	.	ENSG00000180660	ENST00000379919	T	0.18810	2.19	5.76	5.76	0.90799	.	0.155272	0.64402	D	0.000020	T	0.25044	0.0608	M	0.61703	1.905	0.48632	D	0.999686	B	0.06786	0.001	B	0.09377	0.004	T	0.01570	-1.1322	10	0.36615	T	0.2	-3.2857	15.1394	0.72599	0.0695:0.0:0.9305:0.0	.	28	Q13394	MB211_HUMAN	V	28	ENSP00000369251:A28V	ENSP00000369251:A28V	A	-	2	0	MAB21L1	34948193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	1	0	1	153	581	0	124	0	4.388626e-02	0	2	0	124	2		0	0	0	0	0	2	1	1	151	571	0	123	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBEA	26960	broad.mit.edu	37	13	36220438	36220438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36220438C>T	ENST00000400445.3	+	50	8194	c.7660C>T	c.(7660-7662)Cag>Tag	p.Q2554*	NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin			108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)			GACGCCATCTCAGTTGCTTAT	0.468000																								0							SO:0001587	stop_gained			ENST00000400445.3	0	1	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	40	8.518044	0.98845	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.9332	0.92574	0.0:1.0:0.0:0.0	.	.	.	.	X	2554;2554;2551;2554;1181;132;347;132	.	ENSP00000308534:Q2554X	Q	+	1	0	NBEA	35118438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.549000	0.85964	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	10	126	0	25	0	4.183477e-01	1	17	0	25	2		0	0	0	0	0	2	1	9.968932e-01	10	123	0	25	2								-3.320088	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.810000	0.430000	1.000000	1.000000	0.803591	0.810000	0	6.000000e-01	1
DCLK1	9201	broad.mit.edu	37	13	36367610	36367610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36367610C>T	ENST00000360631.3	-	16	2162	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S|DCLK1_ENST00000255448.4_Missense_Mutation_p.G651S			O15075	DCLK1_HUMAN	doublecortin-like kinase 1			64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		TCTGGGAGGCCATCATCCTGG	0.398000																								0							SO:0001583	missense			ENST00000360631.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.194910|3.194910	0.58017|0.58017	.|.	.|.	ENSG00000133083|ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893|ENST00000539451	T;T;T|.	0.38560|.	1.13;1.13;1.13|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Protein kinase-like domain (1);|.	0.111469|.	0.64402|.	D|.	0.000010|.	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.13140|0.13140	0.3|0.3	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26975|.	0.165;0.005;0.016;0.165|.	B;B;B;B|.	0.30401|.	0.115;0.009;0.02;0.115|.	T|T	0.62011|0.62011	-0.6944|-0.6944	10|6	0.42905|0.72032	T|D	0.14|0.01	.|.	19.3844|19.3844	0.94551|0.94551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;651;651;344|.	O15075-4;O15075;O15075-2;O15075-3|.	.;DCLK1_HUMAN;.;.|.	S|I	343;651;651;344|609	ENSP00000255448:G651S;ENSP00000353846:G651S;ENSP00000369223:G344S|.	ENSP00000255448:G651S|ENSP00000441665:M609I	G|M	-|-	1|3	0|0	DCLK1|DCLK1	35265610|35265610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.711000|3.711000	0.54868|0.54868	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GGC|ATG		TCGA-IB-7651-01A-11D-2154-08	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	0	62	264	0	92	0	4.699068e-01	0	8	0	92	2		0	0	0	0	0	2	1	1	59	259	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCLK1	9201	broad.mit.edu	37	13	36396968	36396968	+	Silent	SNP	G	G	A	rs143725017	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36396968G>A	ENST00000360631.3	-	11	1663	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	DCLK1_ENST00000379893.1_Silent_p.T177T|DCLK1_ENST00000255448.4_Silent_p.T484T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1			64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		CGTCTCTCTCGGTGTATTTGT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000360631.3	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	1	77	388	0	91	0	7.975491e-01	0	17	0	91	2		0	0	0	0	0	2	1	1	76	381	0	90	2								-2.437259	0	1	121412	150	56	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCLK1	9201	broad.mit.edu	37	13	36686021	36686021	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686021C>T	ENST00000360631.3	-	3	919	c.708G>A	c.(706-708)acG>acA	p.T236T	DCLK1_ENST00000379892.4_Silent_p.T236T|DCLK1_ENST00000255448.4_Silent_p.T236T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1			64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		TCCCATCCAACGTGTACAGGC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000360631.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	0	32	383	0	72	0	2.445409e-01	0	12	0	72	2		0	0	0	0	0	2	1	1	31	375	0	72	2								-9.356457	1	1	121412	18	46	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.850000	0.600000	1.000000	1.000000	0.855535	0.850000	1	7.200000e-01	1
DCLK1	9201	broad.mit.edu	37	13	36686204	36686204	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686204C>T	ENST00000360631.3	-	3	736	c.525G>A	c.(523-525)gaG>gaA	p.E175E	DCLK1_ENST00000379892.4_Silent_p.E175E|DCLK1_ENST00000255448.4_Silent_p.E175E			O15075	DCLK1_HUMAN	doublecortin-like kinase 1			64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		TCTCTCGCACCTCTGAAGGGC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000360631.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	1	86	541	0	107	0	9.528489e-02	0	4	0	107	2		0	0	0	0	0	2	1	1	86	536	0	106	2								-3.017774	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
DCLK1	9201	broad.mit.edu	37	13	36700099	36700099	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36700099A>G	ENST00000360631.3	-	2	387	c.176T>C	c.(175-177)gTt>gCt	p.V59A	DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A|DCLK1_ENST00000255448.4_Missense_Mutation_p.V59A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1			64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		ATAGAAACGAACTTTCTTGGC	0.582000																								0							SO:0001583	missense			ENST00000360631.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	15.84	2.953052	0.53293	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.90324	-2.65;-2.65;-2.65	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	M	0.79258	2.445	0.80722	D	1	B	0.13145	0.007	B	0.30316	0.114	D	0.87969	0.2735	10	0.30078	T	0.28	.	15.9073	0.79439	1.0:0.0:0.0:0.0	.	59	O15075-2	.	A	59	ENSP00000255448:V59A;ENSP00000353846:V59A;ENSP00000369222:V59A	ENSP00000255448:V59A	V	-	2	0	DCLK1	35598099	1.000000	0.71417	0.976000	0.42696	0.816000	0.46133	9.127000	0.94417	2.158000	0.67659	0.528000	0.53228	GTT		TCGA-IB-7651-01A-11D-2154-08	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	1	0	1	100	390	0	83	0	6.902020e-01	0	11	0	83	2		0	0	0	0	0	2	1	1	98	381	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPG20	23111	broad.mit.edu	37	13	36878678	36878678	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878678T>C	ENST00000451493.1	-	9	2042	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	SPG20_ENST00000438666.2_Missense_Mutation_p.I609V|SPG20_ENST00000355182.4_Missense_Mutation_p.I609V|SPG20_ENST00000494062.2_Missense_Mutation_p.I609V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)			27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		ATTGCTTTGATACCAATGTTG	0.418000																								0							SO:0001583	missense			ENST00000451493.1	1	1	hg19	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776230	0.49786	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88586	-2.4;-2.4;-2.4	5.16	3.97	0.46021	Senescence/spartin-associated (1);	0.109916	0.64402	N	0.000010	D	0.85570	0.5727	L	0.42581	1.335	0.38750	D	0.954083	P;P	0.49447	0.924;0.924	P;P	0.50617	0.646;0.646	T	0.82619	-0.0368	10	0.02654	T	1	-6.3075	10.8538	0.46786	0.0:0.0747:0.0:0.9253	.	609;609	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	V	609	ENSP00000406061:I609V;ENSP00000347314:I609V;ENSP00000414147:I609V	ENSP00000347314:I609V	I	-	1	0	SPG20	35776678	0.995000	0.38212	0.872000	0.34217	0.485000	0.33311	1.896000	0.39789	0.813000	0.34350	0.482000	0.46254	ATC		TCGA-IB-7651-01A-11D-2154-08	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	1	65	436	0	108	0	9.999986e-01	0	131	0	108	2		0	0	0	0	0	2	1	1	66	423	0	108	2								-20.000000	1	0	121412	1	30	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999893	0.990000	1	9.900000e-01	1
SPG20	23111	broad.mit.edu	37	13	36878745	36878745	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878745A>G	ENST00000451493.1	-	9	1975	c.1758T>C	c.(1756-1758)gcT>gcC	p.A586A	SPG20_ENST00000438666.2_Silent_p.A586A|SPG20_ENST00000355182.4_Silent_p.A586A|SPG20_ENST00000494062.2_Silent_p.A586A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)			27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		CATGGTGGGTAGCTTCTCCTG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000451493.1	1	1	hg19	CCDS9356.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	1	52	206	0	43	1	1	6	147	0	43	2		0	0	0	0	0	2	1	1	49	205	0	43	2								-20.000000	1	0	121406	1	25	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SPG20	23111	broad.mit.edu	37	13	36900795	36900795	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36900795A>G	ENST00000451493.1	-	5	1422	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T|SPG20_ENST00000494062.2_Missense_Mutation_p.I402T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)			27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		ACATGGTACAATGTGACTCAG	0.358000																								0							SO:0001583	missense			ENST00000451493.1	1	1	hg19	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987410	0.18889	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.87729	-2.29;-2.29;-2.29	5.68	2.02	0.26589	.	0.388105	0.26092	N	0.026399	T	0.73140	0.3549	N	0.24115	0.695	0.25394	N	0.988507	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.54146	-0.8337	10	0.12766	T	0.61	-3.3442	6.8046	0.23770	0.5431:0.0:0.4569:0.0	.	402;402;402	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	T	402	ENSP00000406061:I402T;ENSP00000347314:I402T;ENSP00000414147:I402T	ENSP00000347314:I402T	I	-	2	0	SPG20	35798795	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	2.090000	0.41682	0.435000	0.26365	0.460000	0.39030	ATT		TCGA-IB-7651-01A-11D-2154-08	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	1	25	155	0	46	0	9.999956e-01	0	130	0	46	2		0	0	0	0	0	2	1	9.999999e-01	25	155	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.950000	1.000000	1.000000	0.996942	0.990000	1	9.900000e-01	1
SPG20	23111	broad.mit.edu	37	13	36905734	36905734	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36905734C>A	ENST00000451493.1	-	3	1028		c.e3-1		SPG20_ENST00000495510.1_Splice_Site|SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000355182.4_Splice_Site|SPG20_ENST00000494062.2_Splice_Site	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)			27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		AGTCACAAACCTGAAAGGATT	0.313000																								0							SO:0001630	splice_region_variant			ENST00000451493.1	1	1	hg19	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073779	0.55646	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.69	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5079	0.67764	0.0:0.9299:0.0:0.0701	.	.	.	.	.	-1	.	.	.	-	.	.	SPG20	35803734	1.000000	0.71417	0.977000	0.42913	0.703000	0.40648	7.084000	0.76866	1.421000	0.47157	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2	1	0	0	50	189	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	50	185	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CCNA1	8900	broad.mit.edu	37	13	37012230	37012230	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37012230C>A	ENST00000255465.4	+	4	835	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I|CCNA1_ENST00000418263.1_Missense_Mutation_p.L190I			P78396	CCNA1_HUMAN	cyclin A1			35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		AGATTCATCTCTCCTCTCCCA	0.393000																								0							SO:0001583	missense			ENST00000255465.4	1	1	hg19	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	5.194	0.221422	0.09863	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15718	2.45;2.45;2.4;2.4	5.76	1.58	0.23477	.	1.145020	0.06264	N	0.694418	T	0.12008	0.0292	L	0.33137	0.985	0.09310	N	1	B;B	0.17038	0.02;0.011	B;B	0.19946	0.027;0.016	T	0.40232	-0.9574	10	0.07990	T	0.79	.	6.1055	0.20071	0.1185:0.3557:0.442:0.0838	.	190;191	P78396-2;P78396	.;CCNA1_HUMAN	I	147;147;190;191	ENSP00000400666:L147I;ENSP00000409873:L147I;ENSP00000396479:L190I;ENSP00000255465:L191I	ENSP00000255465:L191I	L	+	1	0	CCNA1	35910230	0.889000	0.30405	0.000000	0.03702	0.004000	0.04260	0.571000	0.23669	-0.054000	0.13266	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	1	0	1	131	749	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1	129	738	0	175	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNA1	8900	broad.mit.edu	37	13	37014291	37014291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37014291G>A	ENST00000255465.4	+	6	1333	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M|CCNA1_ENST00000418263.1_Missense_Mutation_p.V356M			P78396	CCNA1_HUMAN	cyclin A1			35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)		GCGACAAGGAGTGTGCGTCAG	0.458000																								0							SO:0001583	missense			ENST00000255465.4	1	1	hg19	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594595	0.66219	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	6.03	6.03	0.97812	Cyclin, C-terminal (1);Cyclin-like (3);	0.165896	0.53938	D	0.000060	T	0.37999	0.1024	L	0.58354	1.805	0.53688	D	0.999974	P;P	0.40602	0.723;0.588	P;P	0.47915	0.561;0.472	T	0.03394	-1.1041	10	0.54805	T	0.06	.	15.6123	0.76737	0.067:0.0:0.933:0.0	.	356;357	P78396-2;P78396	.;CCNA1_HUMAN	M	313;313;356;357	ENSP00000400666:V313M;ENSP00000409873:V313M;ENSP00000396479:V356M;ENSP00000255465:V357M	ENSP00000255465:V357M	V	+	1	0	CCNA1	35912291	1.000000	0.71417	0.952000	0.39060	0.674000	0.39518	5.364000	0.66110	2.868000	0.98415	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	1	0	1	76	502	0	123	0	1.782302e-02	0	2	0	123	2		0	0	0	0	0	2	1	1	73	496	0	122	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
SMAD9	4093	broad.mit.edu	37	13	37447026	37447026	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37447026G>A	ENST00000399275.2	-	2	578	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	SMAD9_ENST00000379826.4_Missense_Mutation_p.H147Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.H147Y			O15198	SMAD9_HUMAN	SMAD family member 9			18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)			TATTCACTGTGTCTTGGCACG	0.527000																								0							SO:0001583	missense			ENST00000399275.2	1	1	hg19	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092689	0.56075	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94376	-3.41;-3.4;-3.41	5.24	5.24	0.73138	MAD homology, MH1 (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.005	D	0.88287	0.2940	10	0.29301	T	0.29	.	18.172	0.89749	0.0:0.0:1.0:0.0	.	147;147	O15198-2;O15198	.;SMAD9_HUMAN	Y	147	ENSP00000382216:H147Y;ENSP00000239885:H147Y;ENSP00000369154:H147Y	ENSP00000239885:H147Y	H	-	1	0	SMAD9	36345026	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.590000	0.87494	0.563000	0.77884	CAC		TCGA-IB-7651-01A-11D-2154-08	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	1	0	1	38	171	0	25	0	3.804724e-01	0	7	0	25	2		0	0	0	0	0	2	1	1	36	166	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
SMAD9	4093	broad.mit.edu	37	13	37453838	37453838	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37453838G>T	ENST00000399275.2	-	0	128				SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000379826.4_De_novo_Start_InFrame|SMAD9_ENST00000350148.5_De_novo_Start_InFrame			O15198	SMAD9_HUMAN	SMAD family member 9			18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)			AGAGGCCACAGCAGGCTCCGG	0.627000																								0											ENST00000399275.2	0	1	hg19	CCDS45032.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	0	0	0	60	312	0	44	0	6.463808e-01	0	13	0	44	2		0	0	0	0	0	2	1	1	60	306	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ALG5	29880	broad.mit.edu	37	13	37573380	37573380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37573380G>A	ENST00000239891.3	-	1	124	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	ALG5_ENST00000443765.1_Missense_Mutation_p.L20F|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|ALG5_ENST00000496689.1_Intron|EXOSC8_ENST00000389704.3_5'Flank	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase			11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)			ACCAGTACGAGGGCTGCGGCC	0.701000																								0							SO:0001583	missense			ENST00000239891.3	1	1	hg19	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	g	9.080	0.998965	0.19121	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.83992	-1.79;-1.21	5.22	3.48	0.39840	.	0.248451	0.33753	N	0.004583	D	0.84808	0.5554	L	0.49640	1.575	0.45403	D	0.998389	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.80491	-0.1359	10	0.10636	T	0.68	.	8.6488	0.34022	0.0816:0.1539:0.7646:0.0	.	20;20	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	F	20	ENSP00000239891:L20F;ENSP00000389647:L20F	ENSP00000239891:L20F	L	-	1	0	ALG5	36471380	0.197000	0.23362	0.025000	0.17156	0.007000	0.05969	0.743000	0.26231	1.201000	0.43203	-0.215000	0.12644	CTC		TCGA-IB-7651-01A-11D-2154-08	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	1	0	0	27	164	0	27	1	9.999941e-01	38	84	0	27	2		0	0	0	0	0	2	1	1	26	163	0	27	2								-20.000000	1	1	120820	1	27	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.980000	1.000000	1.000000	0.997950	0.990000	1	9.900000e-01	1
EXOSC8	11340	broad.mit.edu	37	13	37582916	37582916	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37582916G>T	ENST00000389704.3	+	10	924	c.659G>T	c.(658-660)gGa>gTa	p.G220V		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8			7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)			CTGGCAACAGGAACCTTAACA	0.378000																								0							SO:0001583	missense			ENST00000389704.3	1	1	hg19	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181058	0.78677	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.52526	0.66	5.74	5.74	0.90152	Exoribonuclease, phosphorolytic domain 2 (2);	0.098049	0.64402	D	0.000001	T	0.75882	0.3910	M	0.91300	3.195	0.80722	D	1	P;D	0.71674	0.858;0.998	P;D	0.67382	0.732;0.951	T	0.79729	-0.1681	10	0.54805	T	0.06	-21.2381	19.9173	0.97066	0.0:0.0:1.0:0.0	.	192;220	Q5JXM0;Q96B26	.;EXOS8_HUMAN	V	220;192	ENSP00000374354:G220V	ENSP00000369137:G192V	G	+	2	0	EXOSC8	36480916	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.849000	0.75414	2.707000	0.92482	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	1	0	1	31	184	0	43	1	9.999928e-01	23	91	0	43	2		0	0	0	0	0	2	1	1	31	181	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.998987	0.990000	1	9.900000e-01	1
CSNK1A1L	122011	broad.mit.edu	37	13	37678964	37678964	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37678964T>C	ENST00000379800.3	-	1	839	c.430A>G	c.(430-432)Atg>Gtg	p.M144V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like			37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)			CCAGTACCCATCAGGAAGTTA	0.408000																								0							SO:0001583	missense			ENST00000379800.3	1	1	hg19	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544521	0.45280	.	.	ENSG00000180138	ENST00000379800	T	0.62232	0.04	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084250	0.85682	D	0.000000	T	0.61311	0.2337	M	0.64080	1.96	0.42120	D	0.991423	P	0.51147	0.942	P	0.50109	0.631	T	0.62286	-0.6886	10	0.72032	D	0.01	.	6.2671	0.20932	0.0:0.0:0.0:1.0	.	144	Q8N752	KC1AL_HUMAN	V	144	ENSP00000369126:M144V	ENSP00000369126:M144V	M	-	1	0	CSNK1A1L	36576964	1.000000	0.71417	0.980000	0.43619	0.882000	0.50991	5.518000	0.67068	0.725000	0.32318	0.459000	0.35465	ATG		TCGA-IB-7651-01A-11D-2154-08	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	1	0	1	98	479	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1	94	469	0	130	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSNK1A1L	122011	broad.mit.edu	37	13	37679320	37679320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679320G>A	ENST00000379800.3	-	1	483	c.74C>T	c.(73-75)tCt>tTt	p.S25F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like			37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)			AAAGGAGCCAGACCCGATCTT	0.557000																								0							SO:0001583	missense			ENST00000379800.3	1	1	hg19	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454180	0.26161	.	.	ENSG00000180138	ENST00000379800	T	0.68331	-0.32	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	H	0.98646	4.29	0.43137	D	0.994882	B	0.22800	0.075	B	0.27170	0.077	T	0.76203	-0.3045	10	0.87932	D	0	.	7.3576	0.26727	0.0:0.0:1.0:0.0	.	25	Q8N752	KC1AL_HUMAN	F	25	ENSP00000369126:S25F	ENSP00000369126:S25F	S	-	2	0	CSNK1A1L	36577320	0.053000	0.20554	0.920000	0.36463	0.996000	0.88848	1.522000	0.35921	0.686000	0.31488	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	1	0	1	62	455	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	61	444	0	102	2								-19.999710	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999403	0.990000	1	9.900000e-01	1
CSNK1A1L	122011	broad.mit.edu	37	13	37679424	37679424	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679424G>T	ENST00000379800.3	-	0	379					NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like			37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)			GCTGGGCTCAGCCCTGACCCC	0.622000																								0											ENST00000379800.3	0	1	hg19	CCDS9363.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	0	0	0	27	208	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	26	208	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.850000	1.000000	1.000000	0.989064	0.990000	1	9.900000e-01	1
POSTN	10631	broad.mit.edu	37	13	38138654	38138654	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38138654A>G	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor			59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)			CAATACACTTACCTTGAACTT	0.318000																								0							SO:0001630	splice_region_variant			ENST00000379747.4	1	1	hg19	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	6.781	0.513056	0.12944	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.32	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.269	0.26246	0.7765:0.1462:0.0773:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37036654	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.135000	0.50546	0.403000	0.25479	0.454000	0.30748	.		TCGA-IB-7651-01A-11D-2154-08	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	0	0	0	10	323	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	9.964932e-01	10	313	0	80	2								-10.571830	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.340000	0.170000	0.580000	0.330000	0.360446	0.340000	0	2.500000e-01	4.600000e-01
POSTN	10631	broad.mit.edu	37	13	38154704	38154704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38154704C>T	ENST00000379747.4	-	11	1640	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	POSTN_ENST00000541179.1_Missense_Mutation_p.R508H|POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000541481.1_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor			59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)			TTACCTAAAGCGCTTATCTTG	0.438000																								0							SO:0001583	missense			ENST00000379747.4	1	1	hg19	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.551710	0.86127	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	5.02	5.02	0.67125	FAS1 domain (4);	0.290945	0.39475	N	0.001349	D	0.96210	0.8764	M	0.80183	2.485	0.45066	D	0.998089	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.993;0.998;0.995;0.975;0.993	D	0.96451	0.9334	10	0.62326	D	0.03	-9.2511	18.6988	0.91613	0.0:1.0:0.0:0.0	.	508;508;508;508;508;508;508	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	H	508	ENSP00000437959:R508H;ENSP00000369073:R508H;ENSP00000369071:R508H;ENSP00000369067:R508H;ENSP00000369066:R508H;ENSP00000437953:R508H	ENSP00000369066:R508H	R	-	2	0	POSTN	37052704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.236000	0.65354	2.472000	0.83506	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	1	0	0	71	795	0	148	0	1	0	712	0	148	2		0	0	0	0	0	2	1	1	70	780	0	144	2								-16.298330	1	0	121412	1	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.910000	0.720000	1.000000	1.000000	0.907753	0.910000	1	8.100000e-01	1
POSTN	10631	broad.mit.edu	37	13	38160387	38160387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38160387C>T	ENST00000379747.4	-	7	901	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POSTN_ENST00000541179.1_Missense_Mutation_p.A262T|POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor			59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)			CTTCCAAGGGCCTCCAATATG	0.453000																								0							SO:0001583	missense			ENST00000379747.4	1	1	hg19	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500245	0.04291	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.67	-11.3	0.00108	FAS1 domain (4);	0.942284	0.09131	N	0.844389	T	0.55705	0.1937	N	0.00602	-1.34	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.002;0.007;0.002;0.002;0.004;0.001;0.002	T	0.52601	-0.8554	10	0.02654	T	1	.	7.6951	0.28590	0.4374:0.1388:0.0:0.4238	.	262;262;262;262;262;262;262	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	262;262;262;262;262;262;179	ENSP00000437959:A262T;ENSP00000369073:A262T;ENSP00000369071:A262T;ENSP00000369067:A262T;ENSP00000369066:A262T;ENSP00000437953:A262T	ENSP00000369066:A262T	A	-	1	0	POSTN	37058387	0.000000	0.05858	0.017000	0.16124	0.496000	0.33645	-0.702000	0.05069	-3.501000	0.00151	-0.169000	0.13324	GCC		TCGA-IB-7651-01A-11D-2154-08	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	1	0	1	56	260	0	81	0	1	0	458	0	81	2		0	0	0	0	0	2	1	1	56	256	0	79	2								-3.397870	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TRPC4	7223	broad.mit.edu	37	13	38266283	38266283	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266283A>C	ENST00000379705.3	-	4	1944	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4			83					AACTTGATAAATGGCTTCCTG	0.458000																								0							SO:0001583	missense			ENST00000379705.3	1	1	hg19	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509677	0.85282	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.989;0.999;0.968;0.994	D;D;D;D;P;D	0.76071	0.967;0.976;0.979;0.987;0.889;0.947	T	0.75013	-0.3467	10	0.54805	T	0.06	-20.5245	15.5786	0.76414	1.0:0.0:0.0:0.0	.	363;363;363;190;363;363	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	363;363;190;190;363;363;363;363;363	ENSP00000369027:F363V;ENSP00000369003:F363V;ENSP00000342580:F190V;ENSP00000369001:F190V;ENSP00000410133:F363V;ENSP00000348025:F363V;ENSP00000351264:F363V;ENSP00000368995:F363V;ENSP00000414316:F363V	ENSP00000342580:F190V	F	-	1	0	TRPC4	37164283	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.172000	0.94808	2.130000	0.65690	0.383000	0.25322	TTT		TCGA-IB-7651-01A-11D-2154-08	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	1	0	1	39	206	0	45	0	9.087769e-01	0	24	0	45	2		0	0	0	0	0	2	1	1	38	201	0	45	2								-19.906150	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999881	0.990000	1	9.900000e-01	1
UFM1	51569	broad.mit.edu	37	13	38924138	38924138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924138C>T	ENST00000239878.4	+	2	44	c.5C>T	c.(4-6)tCg>tTg	p.S2L	UFM1_ENST00000379649.1_5'UTR|UFM1_ENST00000379641.1_5'Flank	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1			3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)			TTCCTCAGGTCGAAGGTTTCC	0.567000																								0							SO:0001583	missense			ENST00000239878.4	1	1	hg19	CCDS9366.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224134	0.79576	.	.	ENSG00000120686	ENST00000239878	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.56396	0.1982	.	.	.	0.80722	D	1	D;P	0.55800	0.973;0.843	P;B	0.44561	0.453;0.254	T	0.63220	-0.6686	7	0.87932	D	0	.	13.9271	0.63968	0.0:1.0:0.0:0.0	.	2;2	Q5VXS2;P61960	.;UFM1_HUMAN	L	2	.	ENSP00000239878:S2L	S	+	2	0	UFM1	37822138	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.923000	0.63412	2.648000	0.89879	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	1	0	1	138	533	0	142	1	1	80	257	0	142	2		0	0	0	0	0	2	1	1	137	522	0	141	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39262299	39262299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262299G>A	ENST00000280481.7	+	1	1034	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	p.R273H(1)		148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			GCCGCCAGTCGCTCACCAAAC	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000280481.7	1	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043599	0.19748	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	5.81	0.771	0.18504	.	0.408176	0.27917	N	0.017334	T	0.13670	0.0331	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16070	-1.0415	10	0.39692	T	0.17	.	1.7756	0.03021	0.2427:0.1058:0.4352:0.2164	.	273	Q5SZK8	FREM2_HUMAN	H	273	ENSP00000280481:R273H	ENSP00000280481:R273H	R	+	2	0	FREM2	38160299	0.000000	0.05858	0.008000	0.14137	0.981000	0.71138	0.521000	0.22893	0.349000	0.23975	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	46	502	0	120	1	3.064699e-01	7	6	0	120	2		0	0	0	0	0	2	1	1	45	496	0	115	2								-12.388340	1	0	121410	2	39	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.930000	0.690000	1.000000	1.000000	0.915204	0.930000	1	8.000000e-01	1
FREM2	341640	broad.mit.edu	37	13	39262336	39262336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262336G>T	ENST00000280481.7	+	1	1071	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			TGGTGGTGGAGCTGCGTTCAC	0.607000																								0							SO:0001583	missense			ENST00000280481.7	1	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526850	0.64860	.	.	ENSG00000150893	ENST00000280481	T	0.20881	2.04	5.94	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.41710	1.295	0.58432	D	0.999999	D	0.67145	0.996	D	0.66979	0.948	T	0.02009	-1.1230	10	0.44086	T	0.13	.	12.566	0.56310	0.1343:0.0:0.8657:0.0	.	285	Q5SZK8	FREM2_HUMAN	D	285	ENSP00000280481:E285D	ENSP00000280481:E285D	E	+	3	2	FREM2	38160336	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	2.943000	0.49026	0.856000	0.35383	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	77	376	0	91	1	5.299292e-01	4	6	0	91	2		0	0	0	0	0	2	1	1	77	372	0	89	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39262809	39262809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262809G>A	ENST00000280481.7	+	1	1544	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	p.R443Q(1)		148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			GTGGTCACCCGGAATACCGGT	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000280481.7	1	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667568	0.67814	.	.	ENSG00000150893	ENST00000280481	T	0.19532	2.14	5.76	5.76	0.90799	.	0.055642	0.64402	D	0.000002	T	0.22166	0.0534	L	0.39633	1.23	0.58432	D	0.999996	D	0.58620	0.983	P	0.45232	0.474	T	0.00745	-1.1584	10	0.30078	T	0.28	.	15.5538	0.76173	0.0:0.0:0.8615:0.1385	.	443	Q5SZK8	FREM2_HUMAN	Q	443	ENSP00000280481:R443Q	ENSP00000280481:R443Q	R	+	2	0	FREM2	38160809	0.828000	0.29307	0.999000	0.59377	0.971000	0.66376	3.651000	0.54431	2.724000	0.93272	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	80	354	0	58	1	5.166514e-01	5	4	0	58	2		0	0	0	0	0	2	1	1	80	350	0	58	2								-2.797947	1	1	121412	1	30	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39263085	39263085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263085G>A	ENST00000280481.7	+	1	1820	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			CTGGTGCTTCGCATGGTGGAT	0.587000																								0							SO:0001583	missense			ENST00000280481.7	0	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120862	0.56613	.	.	ENSG00000150893	ENST00000280481	T	0.76316	-1.01	5.4	4.54	0.55810	.	0.055337	0.64402	D	0.000001	D	0.86138	0.5861	M	0.85630	2.765	0.80722	D	1	D	0.64830	0.994	P	0.54856	0.762	D	0.88654	0.3184	10	0.72032	D	0.01	.	15.4664	0.75403	0.0:0.0:0.8601:0.1399	.	535	Q5SZK8	FREM2_HUMAN	H	535	ENSP00000280481:R535H	ENSP00000280481:R535H	R	+	2	0	FREM2	38161085	1.000000	0.71417	0.975000	0.42487	0.718000	0.41266	3.443000	0.52907	1.267000	0.44247	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	18	110	0	22	1	2.738900e-01	2	5	0	22	2		0	0	0	0	0	2	1	9.999869e-01	18	108	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.870000	1.000000	1.000000	0.992515	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39263542	39263542	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263542G>T	ENST00000280481.7	+	1	2277	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			CCGGGCTACAGCGGTTTGTGA	0.557000																								0							SO:0001583	missense			ENST00000280481.7	1	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	0.136	-1.108269	0.01813	.	.	ENSG00000150893	ENST00000280481	T	0.26373	1.74	5.97	0.709	0.18150	.	0.217752	0.49916	N	0.000137	T	0.12135	0.0295	N	0.26042	0.785	0.22754	N	0.998775	B	0.02656	0.0	B	0.04013	0.001	T	0.36187	-0.9758	10	0.06099	T	0.92	.	7.0458	0.25044	0.2654:0.2226:0.512:0.0	.	687	Q5SZK8	FREM2_HUMAN	H	687	ENSP00000280481:Q687H	ENSP00000280481:Q687H	Q	+	3	2	FREM2	38161542	0.899000	0.30636	0.853000	0.33588	0.926000	0.56050	1.122000	0.31295	0.136000	0.18733	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	72	423	0	101	1	7.856987e-01	8	11	0	101	2		0	0	0	0	0	2	1	1	70	412	0	99	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39263556	39263556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263556G>A	ENST00000280481.7	+	1	2291	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			TTTGTGATTCGTATCCATCCT	0.567000																								0							SO:0001583	missense			ENST00000280481.7	1	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722443	0.48728	4.54E-4	0.0	ENSG00000150893	ENST00000280481	T	0.29655	1.56	5.97	5.97	0.96955	.	0.066368	0.64402	D	0.000002	T	0.31451	0.0797	L	0.35593	1.075	0.09310	N	0.999999	D	0.64830	0.994	P	0.53006	0.715	T	0.19778	-1.0295	10	0.20046	T	0.44	.	10.7282	0.46081	0.1407:0.0:0.8593:0.0	.	692	Q5SZK8	FREM2_HUMAN	H	692	ENSP00000280481:R692H	ENSP00000280481:R692H	R	+	2	0	FREM2	38161556	0.571000	0.26659	0.975000	0.42487	0.969000	0.65631	3.169000	0.50809	2.837000	0.97791	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	62	393	1	92	1	7.077988e-01	13	13	1	92	3		0	0	0	0	0	2	1	1	60	382	1	90	17								-20.000000	1	0	121412	4	39	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39264040	39264040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264040C>T	ENST00000280481.7	+	1	2775	c.2559C>T	c.(2557-2559)caC>caT	p.H853H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			CAGAGTTGCACGTGAATGATG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000280481.7	1	1	hg19	CCDS31960.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	50	218	0	70	1	3.918216e-01	3	4	0	70	2		0	0	0	0	0	2	1	1	50	211	0	70	2								-20.000000	1	1	121412	6	36	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39264502	39264502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264502G>A	ENST00000280481.7	+	1	3237	c.3021G>A	c.(3019-3021)agG>agA	p.R1007R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			TTACTCAAAGGGACATCTTGG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000280481.7	1	1	hg19	CCDS31960.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	0	81	525	0	139	1	6.514378e-01	10	6	0	139	2		0	0	0	0	0	2	1	1	81	513	1	138	16								-2.966616	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39264866	39264866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264866G>A	ENST00000280481.7	+	1	3601	c.3385G>A	c.(3385-3387)Gca>Aca	p.A1129T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			GAAATCAAGAGCAGGGATTGC	0.463000																								0							SO:0001583	missense			ENST00000280481.7	1	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621270	0.46736	.	.	ENSG00000150893	ENST00000280481	T	0.37584	1.19	6.07	5.23	0.72850	.	0.104847	0.64402	N	0.000003	T	0.48077	0.1480	M	0.64997	1.995	0.58432	D	0.999998	P	0.52316	0.952	P	0.52598	0.703	T	0.41645	-0.9497	10	0.31617	T	0.26	.	15.2394	0.73455	0.0668:0.0:0.9332:0.0	.	1129	Q5SZK8	FREM2_HUMAN	T	1129	ENSP00000280481:A1129T	ENSP00000280481:A1129T	A	+	1	0	FREM2	38162866	0.982000	0.34865	1.000000	0.80357	0.961000	0.63080	1.718000	0.38001	1.588000	0.49971	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	25	252	0	67	1	5.860751e-01	8	13	0	67	2		0	0	0	0	0	2	1	9.999999e-01	24	252	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.670000	1.000000	1.000000	0.933064	0.990000	1	8.200000e-01	1
FREM2	341640	broad.mit.edu	37	13	39265074	39265074	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39265074T>G	ENST00000280481.7	+	1	3809	c.3593T>G	c.(3592-3594)tTt>tGt	p.F1198C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			ATGAGAGAATTTATGGTGATG	0.403000																								0							SO:0001583	missense			ENST00000280481.7	1	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452837	0.63290	.	.	ENSG00000150893	ENST00000280481	T	0.51325	0.71	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.77973	-0.2386	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1198	Q5SZK8	FREM2_HUMAN	C	1198	ENSP00000280481:F1198C	ENSP00000280481:F1198C	F	+	2	0	FREM2	38163074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.333000	0.79357	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	231	982	0	198	1	8.824142e-01	11	7	0	198	2		0	0	0	0	0	2	1	1	228	964	0	198	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	p.V1893I(1)		148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			CAAATACTCCGTTGAAGAAGA	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000280481.7	1	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239314	0.10023	.	.	ENSG00000150893	ENST00000280481	T	0.36699	1.24	5.98	-3.55	0.04639	Na-Ca exchanger/integrin-beta4 (2);	0.362015	0.30920	N	0.008612	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32455	-0.9906	10	0.06757	T	0.87	.	14.9111	0.70758	0.439:0.0:0.561:0.0	.	1893	Q5SZK8	FREM2_HUMAN	I	1893	ENSP00000280481:V1893I	ENSP00000280481:V1893I	V	+	1	0	FREM2	38255242	0.001000	0.12720	0.068000	0.19968	0.823000	0.46562	0.130000	0.15850	-0.977000	0.03537	-0.439000	0.05793	GTT		TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	136	524	0	122	1	9.640132e-01	12	11	0	122	2		0	0	0	0	0	2	1	1	132	518	0	119	2								-20.000000	1	1	121412	5	45	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39448647	39448647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39448647C>T	ENST00000280481.7	+	18	8421	c.8205C>T	c.(8203-8205)atC>atT	p.I2735I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			GCATGCGCATCGGTGATGAGG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000280481.7	1	1	hg19	CCDS31960.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	0	68	411	0	97	1	7.726068e-01	9	10	0	97	2		0	0	0	0	0	2	1	1	66	403	0	97	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
FREM2	341640	broad.mit.edu	37	13	39450468	39450468	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39450468C>T	ENST00000280481.7	+	20	8709	c.8493C>T	c.(8491-8493)acC>acT	p.T2831T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			TGCCAGTCACCTGCAACCCCA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000280481.7	1	1	hg19	CCDS31960.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	1	0	1	75	337	0	95	1	9.873566e-01	17	16	0	95	2		0	0	0	0	0	2	1	1	74	327	0	94	2								-3.314470	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STOML3	161003	broad.mit.edu	37	13	39541021	39541021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39541021G>A	ENST00000379631.4	-	7	1161	c.817C>T	c.(817-819)Cta>Tta	p.L273L	STOML3_ENST00000423210.1_Silent_p.L264L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3			11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)			ATGCCCTCTAGTATATTCATG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000379631.4	1	1	hg19	CCDS9367.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2	0	0	1	69	350	1	80		0	0	0	1	80	2		0	0	0	0	0	2	1	1	68	343	1	80	17								-3.334771	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NHLRC3	387921	broad.mit.edu	37	13	39621894	39621894	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39621894G>T	ENST00000379600.3	+	7	1197	c.875G>T	c.(874-876)aGc>aTc	p.S292I	NHLRC3_ENST00000470258.1_Missense_Mutation_p.S95I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3			11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)			CCAGTGGGAAGCATTGGGGAG	0.483000																								0							SO:0001583	missense			ENST00000379600.3	1	1	hg19	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584687	0.13749	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	T;T;T	0.65364	-0.12;-0.15;-0.09	5.46	-1.72	0.08107	Six-bladed beta-propeller, TolB-like (1);	0.843236	0.11418	N	0.566115	T	0.44435	0.1293	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27625	0.183;0.138	B;B	0.24541	0.039;0.054	T	0.27054	-1.0085	9	.	.	.	-0.0242	1.6697	0.02809	0.3817:0.2268:0.277:0.1146	.	225;292	B4DTL0;Q5JS37	.;NHLC3_HUMAN	I	95;292;225	ENSP00000418127:S95I;ENSP00000368920:S292I;ENSP00000368919:S225I	.	S	+	2	0	NHLRC3	38519894	0.001000	0.12720	0.102000	0.21198	0.486000	0.33341	0.046000	0.14035	-0.188000	0.10499	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	1	0	1	38	189	0	57	1	9.999855e-01	21	67	0	57	2		0	0	0	0	0	2	1	1	36	187	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999916	0.990000	1	9.900000e-01	1
COG6	57511	broad.mit.edu	37	13	40235011	40235011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:40235011G>A	ENST00000455146.3	+	3	412	c.362G>A	c.(361-363)cGc>cAc	p.R121H	COG6_ENST00000416691.1_Missense_Mutation_p.R121H	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6			13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)			ATGACAAGTCGCCTACAGGTA	0.313000																								0							SO:0001583	missense			ENST00000455146.3	0	1	hg19	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557490	0.27827	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.53857	0.6;0.6;0.6	5.65	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.39147	1.195	0.80722	D	1	P;B	0.43024	0.798;0.3	B;B	0.36608	0.229;0.066	T	0.09250	-1.0683	10	0.17369	T	0.5	-8.4541	11.09	0.48110	0.1504:0.0:0.8496:0.0	.	142;121	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	H	121;152;121;121	ENSP00000403733:R121H;ENSP00000412877:R121H;ENSP00000397441:R121H	ENSP00000255468:R152H	R	+	2	0	COG6	39133011	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	7.110000	0.77069	0.745000	0.32763	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3	0	0	0	8	269	0	49	0	7.425332e-01	1	88	0	49	2		0	0	0	0	0	2	1	9.891801e-01	8	266	0	49	2								-3.417253	1	1	121410	8	38	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.330000	0.150000	0.590000	0.320000	0.352624	0.330000	0	2.300000e-01	4.600000e-01
MRPS31	10240	broad.mit.edu	37	13	41303685	41303685	+	Silent	SNP	G	G	A	rs77896392	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41303685G>A	ENST00000323563.6	-	7	1047	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	MIR320D1_ENST00000390157.2_RNA|MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31			13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)			AGCTCTCCAGGTGTTTCTCCA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000323563.6	1	0	hg19	CCDS9372.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2	0	0	1	36	206	0	48	1	9.976455e-01	9	47	0	48	2		0	0	0	0	0	2	1	1	35	199	0	48	2								-3.542690	1	1	121412	780	59	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999623	0.990000	1	9.900000e-01	1
MRPS31	10240	broad.mit.edu	37	13	41340970	41340970	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41340970T>C	ENST00000323563.6	-	2	388	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31			13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)			GGGGGCTTTGTTGTTCGTACA	0.378000																								0							SO:0001583	missense			ENST00000323563.6	1	1	hg19	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.754169	0.31046	.	.	ENSG00000102738	ENST00000323563	T	0.28895	1.59	4.54	-1.16	0.09678	.	0.515963	0.19542	N	0.111773	T	0.24851	0.0603	M	0.65320	2	0.18873	N	0.999985	P	0.44578	0.838	P	0.45099	0.469	T	0.09443	-1.0674	10	0.28530	T	0.3	.	0.5079	0.00590	0.174:0.205:0.1801:0.4409	.	118	Q92665	RT31_HUMAN	A	118	ENSP00000315397:T118A	ENSP00000315397:T118A	T	-	1	0	MRPS31	40238970	0.860000	0.29831	0.985000	0.45067	0.306000	0.27790	0.304000	0.19228	0.189000	0.20188	-0.360000	0.07572	ACA		TCGA-IB-7651-01A-11D-2154-08	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2	1	0	1	90	444	0	94	1	9.999997e-01	29	77	0	94	2		0	0	0	0	0	2	1	1	88	434	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELF1	1997	broad.mit.edu	37	13	41507949	41507949	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41507949G>A	ENST00000239882.3	-	9	1786	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	p.A491V(1)		37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)			AGGAGAGCCCGCCTTTTGTGA	0.483000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000239882.3	1	1	hg19	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791692	0.16258	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.42513	0.97;0.97	5.21	3.41	0.39046	.	0.334193	0.29205	N	0.012837	T	0.21921	0.0528	N	0.08118	0	0.22796	N	0.998728	B;B	0.23185	0.001;0.081	B;B	0.14578	0.002;0.011	T	0.12091	-1.0561	10	0.15066	T	0.55	.	13.9678	0.64221	0.0:0.0:0.7228:0.2772	.	467;491	E9PDQ9;P32519	.;ELF1_HUMAN	V	467;233;491	ENSP00000405580:A467V;ENSP00000239882:A491V	ENSP00000239882:A491V	A	-	2	0	ELF1	40405949	1.000000	0.71417	0.663000	0.29738	0.306000	0.27790	3.759000	0.55227	0.530000	0.28619	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	0	0	0	24	619	0	141	1	9.995506e-01	12	297	0	141	2		0	0	0	0	0	2	1	9.999996e-01	23	609	0	139	2								-3.468479	1	1	121412	3	40	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.410000	0.270000	0.590000	0.410000	0.429718	0.410000	0	3.400000e-01	5.100000e-01
WBP4	11193	broad.mit.edu	37	13	41646932	41646932	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41646932C>T	ENST00000379487.3	+	7	901	c.501C>T	c.(499-501)acC>acT	p.T167T	WBP4_ENST00000542082.1_Silent_p.T146T	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4			12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)			CAGTGAAGACCGTTTGGGTAG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000379487.3	1	1	hg19	CCDS9375.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	1	0	1	44	357	0	74	1	9.958742e-01	14	56	0	74	2		0	0	0	0	0	2	1	1	41	347	0	74	2								-2.329789	0	1	121412	2	37	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.900000	1.000000	1.000000	0.993649	0.990000	1	9.900000e-01	1
MTRF1	9617	broad.mit.edu	37	13	41791362	41791362	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41791362T>A	ENST00000379480.4	-	10	1327	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I|MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1			14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)			CACATAAAAATTCCTGGTAAA	0.333000																								0							SO:0001583	missense			ENST00000379480.4	1	1	hg19	CCDS9378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.66|12.66	2.005756|2.005756	0.35415|0.35415	.|.	.|.	ENSG00000120662|ENSG00000120662	ENST00000379480;ENST00000379477|ENST00000430347	T;T|T	0.11063|0.10668	2.81;2.81|2.85	5.48|5.48	3.01|3.01	0.34805|0.34805	.|.	0.219776|.	0.45867|.	N|.	0.000340|.	T|T	0.10637|0.10637	0.0260|0.0260	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|B	0.36282|0.18013	0.546|0.025	B|B	0.31016|0.14578	0.123|0.011	T|T	0.07770|0.07770	-1.0755|-1.0755	10|9	0.44086|0.41790	T|T	0.13|0.15	-7.3071|-7.3071	5.4177|5.4177	0.16384|0.16384	0.1565:0.0858:0.0:0.7577|0.1565:0.0858:0.0:0.7577	.|.	409|458	O75570|B4DG01	RF1M_HUMAN|.	D|I	409|458	ENSP00000368793:E409D;ENSP00000368790:E409D|ENSP00000400031:N458I	ENSP00000368790:E409D|ENSP00000400031:N458I	E|N	-|-	3|2	2|0	MTRF1|MTRF1	40689362|40689362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.565000|0.565000	0.35776|0.35776	1.845000|1.845000	0.39279|0.39279	0.871000|0.871000	0.35750|0.35750	0.533000|0.533000	0.62120|0.62120	GAA|AAT		TCGA-IB-7651-01A-11D-2154-08	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	1	0	1	57	261	0	73	1	9.567234e-01	4	22	0	73	2		0	0	0	0	0	2	1	1	56	258	0	73	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NAA16	79612	broad.mit.edu	37	13	41899884	41899884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41899884G>T	ENST00000379406.3	+	6	912	c.588G>T	c.(586-588)caG>caT	p.Q196H	NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H|NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit			31					TATTATACCAGAATCAAGTGA	0.284000																								0							SO:0001583	missense			ENST00000379406.3	1	1	hg19	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540615	0.65085	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.45668	0.89;0.89;0.89	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000006	T	0.56863	0.2014	L	0.52573	1.65	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.81914	0.995;0.967;0.986	T	0.52540	-0.8562	10	0.35671	T	0.21	-7.1618	14.0039	0.64451	0.0756:0.0:0.9244:0.0	.	196;196;196	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	H	196	ENSP00000368674:Q196H;ENSP00000368716:Q196H;ENSP00000386103:Q196H	ENSP00000368674:Q196H	Q	+	3	2	NAA16	40797884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.847000	0.48270	2.418000	0.82041	0.557000	0.71058	CAG		TCGA-IB-7651-01A-11D-2154-08	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	1	0	1	23	214	0	55	1	7.860705e-01	3	25	0	55	2		0	0	0	0	0	2	1	9.999995e-01	23	211	0	54	2								-3.075761	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.700000	1.000000	1.000000	0.954452	0.990000	1	8.700000e-01	1
AKAP11	11215	broad.mit.edu	37	13	42876137	42876137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42876137G>A	ENST00000025301.2	+	8	3430	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11			56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)			GTTTGCATGTGGAAGATAAAC	0.428000																								0							SO:0001819	synonymous_variant			ENST00000025301.2	1	1	hg19	CCDS9383.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	1	0	1	87	346	0	79	1	9.999985e-01	23	56	0	79	2		0	0	0	0	0	2	1	1	85	341	0	78	2								-3.080312	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP11	11215	broad.mit.edu	37	13	42877029	42877029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42877029G>A	ENST00000025301.2	+	8	4322	c.4147G>A	c.(4147-4149)Gca>Aca	p.A1383T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11			56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)			ATTACAGGAAGCAGCTAAGAC	0.388000																								0							SO:0001583	missense			ENST00000025301.2	1	1	hg19	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989871	0.93106	.	.	ENSG00000023516	ENST00000025301	T	0.60920	0.15	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77281	-0.2646	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1383	Q9UKA4	AKA11_HUMAN	T	1383	ENSP00000025301:A1383T	ENSP00000025301:A1383T	A	+	1	0	AKAP11	41775029	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.368000	0.97152	2.937000	0.99478	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	0	0	0	10	303	0	55	1	8.953194e-01	8	115	0	55	2		0	0	0	0	0	2	1	9.968012e-01	10	299	0	55	2								-10.798480	1	1	121412	1	28	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.360000	0.180000	0.610000	0.350000	0.382824	0.360000	0	2.600000e-01	4.900000e-01
TNFSF11	8600	broad.mit.edu	37	13	43148613	43148613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43148613C>T	ENST00000239849.6	+	1	325	c.174C>T	c.(172-174)ggC>ggT	p.G58G	TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000544862.1_5'UTR			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11			10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		Denosumab(DB06643)|Lenalidomide(DB00480)	TGGGGCTGGGCCAGGTTGTCT	0.721000																								0							SO:0001819	synonymous_variant			ENST00000239849.6	1	1	hg19	CCDS9384.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2	1	0	0	22	99	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	9.999992e-01	21	97	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999086	0.990000	1	9.900000e-01	1
EPSTI1	94240	broad.mit.edu	37	13	43500515	43500515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43500515C>T	ENST00000398762.3	-	7	613	c.614G>A	c.(613-615)aGt>aAt	p.S205N	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000313640.7_Missense_Mutation_p.S205N			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)			17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)			TTGACAGGCACTTCTGTCTGG	0.433000																								0							SO:0001583	missense			ENST00000398762.3	1	1	hg19	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115810	0.56505	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762;ENST00000537828	T	0.22743	1.94	5.06	3.07	0.35406	.	0.587060	0.18288	N	0.145787	T	0.19604	0.0471	M	0.62723	1.935	0.09310	N	1	B;B	0.17667	0.01;0.023	B;B	0.20767	0.013;0.031	T	0.22068	-1.0227	10	0.26408	T	0.33	-1.067	6.3186	0.21204	0.0:0.6543:0.0:0.3457	.	205;205	Q96J88-2;Q96J88-3	.;.	N	205;205;205;78	ENSP00000318982:S205N	ENSP00000318643:S205N	S	-	2	0	EPSTI1	42398515	0.832000	0.29368	0.002000	0.10522	0.051000	0.14879	1.041000	0.30291	0.629000	0.30376	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	1	0	1	117	633	0	171	1	1	25	350	0	171	2		0	0	0	0	0	2	1	1	117	623	0	168	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPSTI1	94240	broad.mit.edu	37	13	43538235	43538235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43538235T>G	ENST00000398762.3	-	4	371	c.372A>C	c.(370-372)caA>caC	p.Q124H	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000313640.7_Missense_Mutation_p.Q124H			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)			17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)			TCAGCTGGAGTTGTTGTTTCT	0.363000																								0							SO:0001583	missense			ENST00000398762.3	1	1	hg19	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030573	0.54790	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.22539	1.95	5.02	-4.44	0.03557	.	0.071421	0.56097	D	0.000026	T	0.38957	0.1060	M	0.71581	2.175	0.23162	N	0.998199	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.31752	-0.9932	10	0.87932	D	0	-14.6084	13.4021	0.60889	0.0:0.6759:0.0:0.3241	.	124;124	Q96J88-2;Q96J88-3	.;.	H	124	ENSP00000318982:Q124H	ENSP00000318643:Q124H	Q	-	3	2	EPSTI1	42436235	0.508000	0.26154	0.866000	0.34008	0.957000	0.61999	-0.301000	0.08232	-0.962000	0.03604	-0.250000	0.11733	CAA		TCGA-IB-7651-01A-11D-2154-08	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	1	0	1	29	152	0	30	1	1	37	338	0	30	2		0	0	0	0	0	2	1	1	29	148	0	30	2								-16.665390	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999433	0.990000	1	9.900000e-01	1
ENOX1	55068	broad.mit.edu	37	13	43935567	43935567	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43935567A>C	ENST00000261488.6	-	6	807	c.230T>G	c.(229-231)tTt>tGt	p.F77C	ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C|ENOX1_ENST00000482207.1_5'Flank|ENOX1_ENST00000540032.1_5'Flank	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1			34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)			GCTTGGATCAAAGCCTGGGAC	0.433000																								0							SO:0001583	missense			ENST00000261488.6	1	1	hg19	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739477	0.69304	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.50001	0.76;0.76	5.52	5.52	0.82312	.	0.055352	0.64402	D	0.000001	T	0.59500	0.2198	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.63251	-0.6679	10	0.72032	D	0.01	-7.1115	15.6384	0.76973	1.0:0.0:0.0:0.0	.	77	Q8TC92	ENOX1_HUMAN	C	77	ENSP00000261488:F77C;ENSP00000415054:F77C	ENSP00000261488:F77C	F	-	2	0	ENOX1	42833567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.053000	0.76641	2.105000	0.64084	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	1	0	1	47	253	0	57	0	7.698186e-01	0	17	0	57	2		0	0	0	0	0	2	1	1	47	250	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
ENOX1	55068	broad.mit.edu	37	13	43986136	43986136	+	Missense_Mutation	SNP	C	C	T	rs146373261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986136C>T	ENST00000261488.6	-	5	701	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1			34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)			GGATCTGTCACGGACATGTTG	0.537000																								0							SO:0001583	missense			ENST00000261488.6	1	1	hg19	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251216	0.22880	4.54E-4	1.16E-4	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.48522	0.81;0.81	5.62	4.77	0.60923	.	0.065961	0.64402	D	0.000012	T	0.33614	0.0869	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.08554	-1.0716	10	0.23302	T	0.38	0.011	14.0448	0.64698	0.0:0.9273:0.0:0.0727	.	42	Q8TC92	ENOX1_HUMAN	M	42	ENSP00000261488:V42M;ENSP00000415054:V42M	ENSP00000261488:V42M	V	-	1	0	ENOX1	42884136	0.990000	0.36364	0.994000	0.49952	0.994000	0.84299	2.711000	0.47177	1.511000	0.48818	0.467000	0.42956	GTG		TCGA-IB-7651-01A-11D-2154-08	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	1	0	1	61	240	0	46	0	7.306193e-01	0	12	0	46	2		0	0	0	0	0	2	1	1	61	234	0	45	2								-20.000000	1	0	121412	5	39	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC22D1	8848	broad.mit.edu	37	13	45149075	45149075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45149075C>T	ENST00000458659.2	-	1	1626	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1			27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)			AGGAACACTGCTAACAGCAGC	0.483000																								0							SO:0001583	missense			ENST00000458659.2	1	1	hg19	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.558873	0.00009	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.29917	1.55	4.61	-1.12	0.09808	.	0.285367	0.30269	N	0.010014	T	0.08313	0.0207	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	10	0.06099	T	0.92	.	7.3014	0.26422	0.0:0.153:0.1233:0.7237	.	379;379	B3KRL7;Q15714	.;T22D1_HUMAN	N	379	ENSP00000397435:S379N	ENSP00000397435:S379N	S	-	2	0	TSC22D1	44047075	0.975000	0.34042	0.309000	0.25155	0.021000	0.10359	0.637000	0.24659	-0.014000	0.14175	-1.421000	0.01109	AGC		TCGA-IB-7651-01A-11D-2154-08	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	1	0	1	65	267	0	55	1	9.998927e-01	13	45	0	55	2		0	0	0	0	0	2	1	1	64	259	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUFIP1	26747	broad.mit.edu	37	13	45554055	45554055	+	Silent	SNP	G	G	A	rs138309260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45554055G>A	ENST00000379161.4	-	4	673	c.627C>T	c.(625-627)caC>caT	p.H209H	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1			18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		CAATCTTCTCGTGTGCAGTAA	0.294000																								0							SO:0001819	synonymous_variant			ENST00000379161.4	1	1	hg19	CCDS9393.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	1	0	1	21	142	0	44	1	9.888426e-01	18	34	0	44	2		0	0	0	0	0	2	1	9.999981e-01	21	139	0	43	2								-4.774779	1	1	121386	94	50	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.870000	1.000000	1.000000	0.991612	0.990000	1	9.900000e-01	1
SLC25A30	253512	broad.mit.edu	37	13	45976427	45976427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976427T>C	ENST00000539591.1	-	5	482	c.319A>G	c.(319-321)Aca>Gca	p.T107A				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30			9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		AGTCCTCTTGTCCCCTCTTGC	0.368000																								0							SO:0001583	missense			ENST00000539591.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.21	1.870535	0.33069	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.59	1.81	0.25067	Mitochondrial carrier domain (2);	0.146358	0.64402	N	0.000010	T	0.67021	0.2849	N	0.16098	0.37	0.43885	D	0.996502	P;P	0.46784	0.884;0.884	P;P	0.50537	0.643;0.643	T	0.62029	-0.6940	10	0.38643	T	0.18	-5.3928	9.0201	0.36195	0.0:0.2111:0.0:0.7889	.	158;158	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	A	158;83;107;107;83	ENSP00000429168:T158A;ENSP00000443542:T107A;ENSP00000429308:T107A;ENSP00000430687:T83A	ENSP00000429308:T107A	T	-	1	0	SLC25A30	44874427	0.996000	0.38824	0.084000	0.20598	0.983000	0.72400	2.564000	0.45931	0.145000	0.18977	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	47	480	0	101	1	9.488494e-01	8	44	0	101	2		0	0	0	0	0	2	1	1	46	472	0	99	2								-13.623780	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.740000	1.000000	1.000000	0.946942	0.990000	1	8.600000e-01	1
SLC25A30	253512	broad.mit.edu	37	13	45976437	45976437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976437C>A	ENST00000539591.1	-	5	472	c.309G>T	c.(307-309)caG>caT	p.Q103H				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30			9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		TCCCCTCTTGCTGGTAAATGT	0.383000																								0							SO:0001583	missense			ENST00000539591.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.26	2.780874	0.49891	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.59	3.87	0.44632	Mitochondrial carrier domain (2);	0.054596	0.85682	D	0.000000	T	0.73140	0.3549	L	0.60455	1.87	0.42273	D	0.992066	B;B	0.06786	0.001;0.001	B;B	0.17433	0.018;0.018	T	0.69720	-0.5069	10	0.59425	D	0.04	-5.9333	10.8811	0.46939	0.0:0.7882:0.0:0.2118	.	154;154	Q5SVS4;B3KSR0	KMCP1_HUMAN;.	H	154;79;103;103;79	ENSP00000429168:Q154H;ENSP00000443542:Q103H;ENSP00000429308:Q103H;ENSP00000430687:Q79H	ENSP00000429308:Q103H	Q	-	3	2	SLC25A30	44874437	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.711000	0.37930	0.837000	0.34925	-0.150000	0.13652	CAG		TCGA-IB-7651-01A-11D-2154-08	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	75	469	0	104	1	9.934920e-01	4	46	0	104	2		0	0	0	0	0	2	1	1	72	465	0	102	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
COG3	83548	broad.mit.edu	37	13	46067616	46067616	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46067616A>C	ENST00000349995.5	+	12	1434	c.1322A>C	c.(1321-1323)aAc>aCc	p.N441T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3			24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		CATGTGCAGAACAATGGTAAA	0.353000													Ovarian(150;1048 1859 18083 21577 42700)											0							SO:0001583	missense			ENST00000349995.5	1	1	hg19	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548562	0.65311	.	.	ENSG00000136152	ENST00000349995	T	0.46063	0.88	5.63	5.63	0.86233	.	0.045932	0.85682	D	0.000000	T	0.42063	0.1186	L	0.37561	1.115	0.58432	D	0.999997	B;D;D	0.57257	0.138;0.979;0.974	B;P;P	0.51777	0.039;0.679;0.647	T	0.16012	-1.0417	10	0.10636	T	0.68	-9.047	15.0147	0.71576	1.0:0.0:0.0:0.0	.	278;441;441	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	T	441	ENSP00000258654:N441T	ENSP00000258654:N441T	N	+	2	0	COG3	44965617	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.331000	0.96430	2.138000	0.66242	0.377000	0.23210	AAC		TCGA-IB-7651-01A-11D-2154-08	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2	1	0	1	72	305	0	63	1	9.999825e-01	13	57	0	63	2		0	0	0	0	0	2	1	1	72	300	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPERT	220082	broad.mit.edu	37	13	46276968	46276968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46276968C>T	ENST00000310521.1	+	2	214	c.134C>T	c.(133-135)cCa>cTa	p.P45L	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated			15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		CTAGAAATTCCAATCAGTGTG	0.428000																								0							SO:0001583	missense			ENST00000310521.1	1	1	hg19	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693050	0.68271	.	.	ENSG00000174015	ENST00000310521	T	0.58358	0.34	4.46	4.46	0.54185	.	0.180171	0.27654	N	0.018417	T	0.61426	0.2346	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59783	-0.7389	10	0.48119	T	0.1	.	12.9338	0.58303	0.0:1.0:0.0:0.0	.	45	Q8NA61	SPERT_HUMAN	L	45	ENSP00000309189:P45L	ENSP00000309189:P45L	P	+	2	0	SPERT	45174969	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.018000	0.49625	2.753000	0.94483	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	1	0	1	36	188	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	34	186	0	53	2								-3.109865	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999825	0.990000	1	9.900000e-01	1
SPERT	220082	broad.mit.edu	37	13	46287329	46287329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46287329G>A	ENST00000310521.1	+	3	249	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SPERT_ENST00000378966.3_Missense_Mutation_p.E21K	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	p.E57K(1)		15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		GGGCACAGCCGAACCCTTCCC	0.647000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000310521.1	1	1	hg19	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247467	0.59103	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.57752	0.39;0.38	5.1	5.1	0.69264	.	0.000000	0.48286	D	0.000181	T	0.63651	0.2529	L	0.40543	1.245	0.39134	D	0.961919	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.67601	-0.5629	10	0.87932	D	0	.	13.8953	0.63768	0.0:0.0:1.0:0.0	.	21;57	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	K	57;30;21	ENSP00000309189:E57K;ENSP00000368249:E21K	ENSP00000309189:E57K	E	+	1	0	SPERT	45185330	0.994000	0.37717	0.998000	0.56505	0.231000	0.25187	2.592000	0.46171	2.653000	0.90120	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	1	0	0	45	169	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	45	166	0	31	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZC3H13	23091	broad.mit.edu	37	13	46563006	46563006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46563006G>A	ENST00000242848.4	-	9	1519	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13			79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		GGAGAGCGATGTCTTGGAGGA	0.483000													Esophageal Squamous(187;747 2077 11056 31291 44172)											0							SO:0001583	missense			ENST00000242848.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959377	0.53400	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35421	2.27;1.31	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000004	T	0.50240	0.1604	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.62955	0.813;0.909	T	0.48068	-0.9067	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	391;391	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	391;391;207	ENSP00000242848:H391Y;ENSP00000282007:H391Y	ENSP00000242848:H391Y	H	-	1	0	ZC3H13	45461007	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.859000	0.86982	2.738000	0.93877	0.655000	0.94253	CAT		TCGA-IB-7651-01A-11D-2154-08	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	1	0	1	52	194	0	56	1	1	31	77	0	56	2		0	0	0	0	0	2	1	1	52	191	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPB2	1361	broad.mit.edu	37	13	46679085	46679085	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46679085G>A	ENST00000181383.4	-	1	76	c.60C>T	c.(58-60)gtC>gtT	p.V20V	CPB2_ENST00000439329.3_Silent_p.V20V|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)			21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		GAAACGCGAAGACATGCTGCT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000181383.4	1	1	hg19	CCDS9401.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	0	0	0	11	255	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.983282e-01	11	252	0	52	2								-12.549720	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.470000	0.250000	0.760000	0.460000	0.488887	0.470000	0	3.400000e-01	6.200000e-01
LCP1	3936	broad.mit.edu	37	13	46704966	46704966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46704966C>T	ENST00000398576.2	-	18	2122	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E	LCP1_ENST00000435666.2_Silent_p.E147E|LCP1_ENST00000323076.2_Silent_p.E578E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)			34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		TGTTGAGTTTCTCATCATCAT	0.423000			T	BCL6	NHL										Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0							SO:0001819	synonymous_variant			ENST00000398576.2	1	1	hg19	CCDS9403.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	0	80	402	0	104	1	1	2	409	0	104	2		0	0	0	0	0	2	1	1	80	395	0	104	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCP1	3936	broad.mit.edu	37	13	46716542	46716542	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46716542C>T	ENST00000398576.2	-	16	1775	c.1387G>A	c.(1387-1389)Gcg>Acg	p.A463T	LCP1_ENST00000435666.2_Missense_Mutation_p.A32T|LCP1_ENST00000323076.2_Missense_Mutation_p.A463T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)			34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		AATTCTACCGCGTAGTTACAA	0.388000			T	BCL6	NHL										Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0							SO:0001583	missense			ENST00000398576.2	1	1	hg19	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392492	0.83011	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.97089	-4.24;-4.24;-4.24	5.64	5.64	0.86602	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.97110	0.903;1.0	D	0.98678	1.0691	10	0.45353	T	0.12	-15.0268	18.6878	0.91571	0.0:1.0:0.0:0.0	.	32;463	B4DUA0;P13796	.;PLSL_HUMAN	T	463;463;32	ENSP00000315757:A463T;ENSP00000381581:A463T;ENSP00000405134:A32T	ENSP00000315757:A463T	A	-	1	0	LCP1	45614543	1.000000	0.71417	0.994000	0.49952	0.261000	0.26267	7.818000	0.86416	2.662000	0.90505	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	1	84	324	0	88	0	1	0	400	0	88	2		0	0	0	0	0	2	1	1	84	319	0	87	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCP1	3936	broad.mit.edu	37	13	46730615	46730615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46730615G>A	ENST00000398576.2	-	8	837	c.449C>T	c.(448-450)aCg>aTg	p.T150M	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.T150M			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)			34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		GAGATCATTCGTGTTTGGGTT	0.393000			T	BCL6	NHL										Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0							SO:0001583	missense			ENST00000398576.2	1	1	hg19	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681947	0.47991	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.95788	-3.81;-3.81;-3.81	5.61	5.61	0.85477	Calponin homology domain (5);	0.043588	0.85682	D	0.000000	D	0.94509	0.8232	M	0.76170	2.325	0.80722	D	1	P	0.40638	0.725	B	0.34301	0.179	D	0.94563	0.7764	10	0.52906	T	0.07	-18.0852	18.9874	0.92777	0.0:0.0:1.0:0.0	.	150	P13796	PLSL_HUMAN	M	150	ENSP00000315757:T150M;ENSP00000381581:T150M;ENSP00000408052:T150M	ENSP00000315757:T150M	T	-	2	0	LCP1	45628616	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	3.691000	0.54720	2.813000	0.96785	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	1	119	740	0	155	0	1	1	333	0	155	2		0	0	0	0	0	2	1	1	119	735	0	155	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCP1	3936	broad.mit.edu	37	13	46733793	46733793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46733793G>A	ENST00000398576.2	-	5	393	c.5C>T	c.(4-6)gCc>gTc	p.A2V	LCP1_ENST00000460190.1_5'UTR|LCP1_ENST00000323076.2_Missense_Mutation_p.A2V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)			34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		TGATCCTCTGGCCATTTTTTA	0.388000			T	BCL6	NHL										Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0							SO:0001583	missense			ENST00000398576.2	1	1	hg19	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012336	0.75046	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.74421	-0.84;-0.84;0.29;-0.03	5.13	5.13	0.70059	.	0.109676	0.64402	D	0.000011	T	0.66694	0.2815	L	0.35723	1.085	0.80722	D	1	B	0.32573	0.376	B	0.30646	0.118	T	0.70114	-0.4961	10	0.72032	D	0.01	-15.4324	16.1014	0.81175	0.0:0.0:1.0:0.0	.	2	P13796	PLSL_HUMAN	V	2	ENSP00000315757:A2V;ENSP00000381581:A2V;ENSP00000408052:A2V;ENSP00000402157:A2V	ENSP00000315757:A2V	A	-	2	0	LCP1	45631794	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.708000	0.61859	2.532000	0.85374	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	1	47	229	0	60	1	1	2	178	0	60	2		0	0	0	0	0	2	1	1	47	225	0	59	2								-3.275582	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
LRCH1	23143	broad.mit.edu	37	13	47255891	47255891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47255891G>A	ENST00000389798.3	+	4	792	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LRCH1_ENST00000311191.6_Missense_Mutation_p.E199K|LRCH1_ENST00000389797.3_Missense_Mutation_p.E199K	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1			26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		CAGCTGCAACGAGATCACAGC	0.368000																								0							SO:0001583	missense			ENST00000389798.3	1	1	hg19	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.591442	0.86851	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56444	0.46;0.46;0.46	5.58	5.58	0.84498	.	0.182364	0.49916	D	0.000131	T	0.44222	0.1283	N	0.04203	-0.255	0.58432	D	0.999997	P;D;P;B	0.64830	0.934;0.994;0.919;0.372	B;P;B;B	0.50970	0.446;0.655;0.318;0.168	T	0.56763	-0.7925	10	0.62326	D	0.03	-12.7124	18.6246	0.91333	0.0:0.0:1.0:0.0	.	199;199;199;199	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	K	199	ENSP00000308493:E199K;ENSP00000374448:E199K;ENSP00000374447:E199K	ENSP00000308493:E199K	E	+	1	0	LRCH1	46153892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.167000	0.94773	2.645000	0.89757	0.538000	0.68166	GAG		TCGA-IB-7651-01A-11D-2154-08	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	1	0	1	31	163	0	65	1	9.999757e-01	30	61	0	65	2		0	0	0	0	0	2	1	1	30	162	0	64	2								-2.814271	1	1	121412	4	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999584	0.990000	1	9.900000e-01	1
LRCH1	23143	broad.mit.edu	37	13	47262061	47262061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47262061C>T	ENST00000389798.3	+	6	1094	c.897C>T	c.(895-897)tcC>tcT	p.S299S	LRCH1_ENST00000311191.6_Silent_p.S299S|LRCH1_ENST00000389797.3_Silent_p.S299S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1			26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		CAGCTGACTCCCTTTATCTCC	0.423000																								0							SO:0001819	synonymous_variant			ENST00000389798.3	1	1	hg19	CCDS31972.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	1	0	1	49	278	0	85	1	9.996928e-01	26	45	0	85	2		0	0	0	0	0	2	1	1	49	277	0	85	2								-2.971484	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
LRCH1	23143	broad.mit.edu	37	13	47269052	47269052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47269052C>T	ENST00000389798.3	+	9	1342	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	LRCH1_ENST00000311191.6_Missense_Mutation_p.P382L|LRCH1_ENST00000389797.3_Missense_Mutation_p.P382L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1			26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		GAATTTCAACCGGAGCCTTCC	0.398000																								0							SO:0001583	missense			ENST00000389798.3	1	1	hg19	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289009	0.10513	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.54071	0.59;0.64;0.63	5.68	3.78	0.43462	.	0.343441	0.24793	N	0.035544	T	0.32285	0.0824	L	0.36672	1.1	0.39613	D	0.969908	P;B;P;P	0.49635	0.878;0.139;0.926;0.878	B;B;B;B	0.37888	0.133;0.011;0.26;0.091	T	0.15752	-1.0426	10	0.12430	T	0.62	-3.5177	5.8134	0.18479	0.2344:0.6677:0.0:0.0979	.	382;382;382;382	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	L	382	ENSP00000308493:P382L;ENSP00000374448:P382L;ENSP00000374447:P382L	ENSP00000308493:P382L	P	+	2	0	LRCH1	46167053	0.003000	0.15002	0.908000	0.35775	0.896000	0.52359	0.603000	0.24149	1.407000	0.46875	-0.145000	0.13849	CCG		TCGA-IB-7651-01A-11D-2154-08	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	1	0	1	72	348	0	90	1	1	33	102	0	90	2		0	0	0	0	0	2	1	1	72	342	0	90	2								-2.539749	1	1	121412	2	31	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRCH1	23143	broad.mit.edu	37	13	47297373	47297373	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47297373A>C	ENST00000389798.3	+	16	1869	c.1672A>C	c.(1672-1674)Aga>Cga	p.R558R	LRCH1_ENST00000311191.6_Silent_p.R558R|LRCH1_ENST00000389797.3_Silent_p.R593R	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1			26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		AAGACCTCAGAGAAATTTGGA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000389798.3	1	1	hg19	CCDS31972.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	1	0	1	33	242	0	63	1	9.999443e-01	26	87	0	63	2		0	0	0	0	0	2	1	1	31	235	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.920000	1.000000	1.000000	0.995328	0.990000	1	9.900000e-01	1
ESD	2098	broad.mit.edu	37	13	47345570	47345570	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47345570G>T	ENST00000378720.3	-	10	1012	c.830C>A	c.(829-831)gCt>gAt	p.A277D	ESD_ENST00000378697.1_Missense_Mutation_p.A248D	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D			9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		Glutathione(DB00143)	CAGGTATTTAGCATGATGTCT	0.308000																								0							SO:0001583	missense			ENST00000378720.3	1	1	hg19	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691844	0.88735	.	.	ENSG00000139684	ENST00000378720;ENST00000378697	T;T	0.32272	1.46;1.46	6.17	6.17	0.99709	.	0.053187	0.85682	D	0.000000	T	0.67069	0.2854	H	0.94698	3.57	0.80722	D	1	P	0.52842	0.956	D	0.72075	0.976	T	0.74714	-0.3572	10	0.87932	D	0	-14.6698	15.3567	0.74431	0.0:0.1387:0.8613:0.0	.	277	P10768	ESTD_HUMAN	D	277;248	ENSP00000367992:A277D;ENSP00000367969:A248D	ENSP00000367969:A248D	A	-	2	0	ESD	46243571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.597000	0.82733	2.941000	0.99782	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1	1	0	1	52	390	0	138	1	1	108	416	0	138	2		0	0	0	0	0	2	1	1	52	383	0	136	2								-19.234690	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.980000	1.000000	1.000000	0.998439	0.990000	1	9.900000e-01	1
HTR2A	3356	broad.mit.edu	37	13	47409298	47409298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47409298C>T	ENST00000378688.4	-	3	1221	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	HTR2A_ENST00000543956.1_Missense_Mutation_p.V280M|HTR2A_ENST00000542664.1_Missense_Mutation_p.V364M			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled			36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAAACAAACACATTGAGCAGG	0.468000																								0							SO:0001583	missense			ENST00000378688.4	0	1	hg19	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490649	0.44249	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.40756	1.02;1.02;1.02	5.65	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.144833	0.48286	D	0.000182	T	0.61689	0.2367	M	0.81112	2.525	0.46823	D	0.999214	D;D	0.53885	0.957;0.963	P;D	0.64877	0.753;0.93	T	0.64740	-0.6336	10	0.87932	D	0	.	9.9077	0.41386	0.0:0.8599:0.0:0.1401	.	280;364	F5GWE8;P28223	.;5HT2A_HUMAN	M	364;280;364	ENSP00000367959:V364M;ENSP00000441861:V280M;ENSP00000437737:V364M	ENSP00000367959:V364M	V	-	1	0	HTR2A	46307299	0.731000	0.28111	0.995000	0.50966	0.566000	0.35808	1.463000	0.35277	2.827000	0.97445	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	0	0	0	10	371	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	9.967622e-01	10	366	0	67	2								-9.713358	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.300000	0.150000	0.510000	0.290000	0.316093	0.300000	0	2.100000e-01	4.000000e-01
SUCLA2	8803	broad.mit.edu	37	13	48528619	48528619	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48528619C>A	ENST00000378654.3	-	7	932	c.876G>T	c.(874-876)caG>caT	p.Q292H	SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H|SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit			15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		Succinic acid(DB00139)	GGGTCCAGTCCTGTAGATCAA	0.403000																								0							SO:0001583	missense			ENST00000378654.3	1	1	hg19	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.779577	0.31502	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.67	1.94	0.25998	ATP-grasp fold, subdomain 2 (1);	0.183522	0.51477	D	0.000096	T	0.47173	0.1431	N	0.19112	0.55	0.41963	D	0.990719	B	0.15141	0.012	B	0.19148	0.024	T	0.33394	-0.9870	10	0.51188	T	0.08	0.7528	7.3261	0.26555	0.1155:0.6275:0.0:0.257	.	292	Q9P2R7	SUCB1_HUMAN	H	292;270;222;144;158;234;234;120;222;144	ENSP00000367923:Q292H;ENSP00000443412:Q158H;ENSP00000438182:Q234H;ENSP00000441056:Q234H;ENSP00000392771:Q222H;ENSP00000415091:Q144H	ENSP00000367898:Q144H	Q	-	3	2	SUCLA2	47426620	0.999000	0.42202	0.909000	0.35828	0.983000	0.72400	0.716000	0.25836	0.413000	0.25759	-0.143000	0.13931	CAG		TCGA-IB-7651-01A-11D-2154-08	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1	1	0	1	102	371	0	92	1	1	25	125	0	92	2		0	0	0	0	0	2	1	1	102	368	0	91	2								-3.693377	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITM2B	9445	broad.mit.edu	37	13	48832293	48832293	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48832293A>C	ENST00000378565.5	+	4	688	c.485A>C	c.(484-486)gAt>gCt	p.D162A	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B			6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)			CTTAACCTGGATAAGTGCTAT	0.368000																								0							SO:0001583	missense			ENST00000378565.5	1	1	hg19	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897934	0.91962	.	.	ENSG00000136156	ENST00000378565	T	0.78924	-1.22	5.84	5.84	0.93424	BRICHOS (2);	0.187411	0.56097	D	0.000029	D	0.84243	0.5429	M	0.62723	1.935	0.80722	D	1	P	0.52170	0.951	P	0.58660	0.843	D	0.84274	0.0490	10	0.45353	T	0.12	-7.6342	15.4071	0.74887	1.0:0.0:0.0:0.0	.	162	Q9Y287	ITM2B_HUMAN	A	162	ENSP00000367828:D162A	ENSP00000367828:D162A	D	+	2	0	ITM2B	47730294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.285000	0.65633	2.230000	0.72887	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	1	0	1	66	406	0	100	1	1	792	5238	0	100	2		0	0	0	0	0	2	1	1	63	399	0	99	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
RB1	5925	broad.mit.edu	37	13	48916833	48916833	+	Missense_Mutation	SNP	G	G	T	rs67045046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48916833G>T	ENST00000267163.4	+	3	501	c.363G>T	c.(361-363)caG>caT	p.Q121H		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	p.0?(15)|p.?(5)		496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTGAGCTACAGAAAAACATAG	0.348000		6	D, Mis, N, F, S		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		L, E, M, O	20	Whole gene deletion(15)|Unknown(5)						SO:0001583	missense	Familial Cancer Database		ENST00000267163.4	1	1	hg19	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561901	0.65538	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.73575	-0.76	5.39	3.65	0.41850	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.149165	0.47093	D	0.000243	T	0.73969	0.3655	L	0.36672	1.1	0.32600	N	0.52605	D	0.57571	0.98	P	0.57425	0.82	T	0.78432	-0.2206	10	0.72032	D	0.01	.	8.6149	0.33826	0.1784:0.0:0.8216:0.0	.	121	P06400	RB_HUMAN	H	100;121	ENSP00000267163:Q121H	ENSP00000267163:Q121H	Q	+	3	2	RB1	47814834	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.421000	0.44688	0.745000	0.32763	0.603000	0.83216	CAG		TCGA-IB-7651-01A-11D-2154-08	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1	1	0	0	17	259	0	63	1	8.719037e-01	2	56	0	63	2		0	0	0	0	0	2	1	9.999685e-01	17	259	0	62	2								-5.773139	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.680000	0.420000	1.000000	1.000000	0.703987	0.680000	0	5.400000e-01	8.600000e-01
RB1	5925	broad.mit.edu	37	13	48955427	48955427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48955427C>A	ENST00000267163.4	+	17	1681	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	p.0?(15)|p.?(8)		496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTTGTCTTTCCCATGGATTCT	0.303000		6	D, Mis, N, F, S		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		L, E, M, O	23	Whole gene deletion(15)|Unknown(8)						SO:0001583	missense	Familial Cancer Database		ENST00000267163.4	1	1	hg19	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454404	0.84209	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.96073	-3.9	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99010	1.0814	10	0.87932	D	0	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	515	P06400	RB_HUMAN	T	494;515	ENSP00000267163:P515T	ENSP00000267163:P515T	P	+	1	0	RB1	47853428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.488000	0.83962	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1	1	0	1	16	85	0	34	1	9.969923e-01	8	47	0	34	2		0	0	0	0	0	2	1	9.999552e-01	16	84	0	34	2								-3.301466	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.900000	1.000000	1.000000	0.994123	0.990000	1	9.900000e-01	1
LPAR6	10161	broad.mit.edu	37	13	48986181	48986181	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48986181G>T	ENST00000378434.4	-	7	2003	c.379C>A	c.(379-381)Cta>Ata	p.L127I	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	p.0?(15)|p.?(4)		14					TTGGTTCTTAGAGTCTTTGAC	0.418000																								19	Whole gene deletion(15)|Unknown(4)						SO:0001583	missense			ENST00000378434.4	0	1	hg19	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189123	0.21954	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.71698	-0.59;-0.59	6.06	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.232564	0.35585	N	0.003120	T	0.49389	0.1554	N	0.16130	0.375	0.39018	D	0.95969	B	0.09022	0.002	B	0.15870	0.014	T	0.44267	-0.9339	10	0.22109	T	0.4	.	8.3214	0.32132	0.0702:0.0:0.5526:0.3772	.	127	P43657	LPAR6_HUMAN	I	127	ENSP00000367691:L127I;ENSP00000344353:L127I	ENSP00000344353:L127I	L	-	1	2	LPAR6	47884182	0.960000	0.32886	1.000000	0.80357	0.999000	0.98932	1.609000	0.36858	1.547000	0.49401	0.655000	0.94253	CTA		TCGA-IB-7651-01A-11D-2154-08	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	1	0	0	9	110	0	22	1	9.645401e-01	2	72	0	22	2		0	0	0	0	0	2	1	9.941527e-01	9	107	0	22	2								-13.936400	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.830000	0.420000	1.000000	1.000000	0.813787	0.830000	0	6.000000e-01	1
RB1	5925	broad.mit.edu	37	13	49054158	49054158	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49054158A>G	ENST00000267163.4	+	27	2876	c.2738A>G	c.(2737-2739)aAg>aGg	p.K913R	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	p.0?(15)|p.?(11)		496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	CGAATGCAAAAGCAGAAAATG	0.418000		6	D, Mis, N, F, S		retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		L, E, M, O	26	Whole gene deletion(15)|Unknown(11)						SO:0001583	missense	Familial Cancer Database		ENST00000267163.4	1	1	hg19	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300929	0.81136	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.81247	-1.47	6.06	6.06	0.98353	Rb C-terminal (1);	0.054730	0.64402	D	0.000001	D	0.82486	0.5047	L	0.40543	1.245	0.41921	D	0.990516	P	0.50528	0.936	P	0.53266	0.722	D	0.84188	0.0443	10	0.62326	D	0.03	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	913	P06400	RB_HUMAN	R	892;913	ENSP00000267163:K913R	ENSP00000267163:K913R	K	+	2	0	RB1	47952159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	2.315000	0.78130	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1	1	0	1	32	147	0	41	1	1	20	197	0	41	2		0	0	0	0	0	2	1	1	32	142	0	41	2								-19.036400	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999861	0.990000	1	9.900000e-01	1
RCBTB2	1102	broad.mit.edu	37	13	49064315	49064315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49064315C>T	ENST00000344532.3	-	15	2011	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	RCBTB2_ENST00000430805.2_Missense_Mutation_p.E535K|RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2			31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)			TGGTCCATTTCTGCAAAACCT	0.383000																								0							SO:0001583	missense			ENST00000344532.3	0	1	hg19	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	9.919	1.211695	0.22289	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.74632	0.03;0.04;-0.86	5.87	5.87	0.94306	.	0.043874	0.85682	D	0.000000	T	0.46483	0.1395	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.32573	0.004;0.0;0.376;0.0	B;B;B;B	0.30401	0.01;0.002;0.115;0.001	T	0.59005	-0.7535	10	0.02654	T	1	.	20.1998	0.98258	0.0:1.0:0.0:0.0	.	256;535;482;530	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	K	530;482;535;535;256	ENSP00000345144:E530K;ENSP00000389910:E535K;ENSP00000443862:E256K	ENSP00000345144:E530K	E	-	1	0	RCBTB2	47962316	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.587000	0.60991	2.778000	0.95560	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	0	0	0	10	311	0	83	0	6.347210e-01	0	66	0	83	2		0	0	0	0	0	2	1	9.968018e-01	10	307	0	83	2								-3.279990	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.350000	0.180000	0.600000	0.340000	0.373548	0.350000	0	2.500000e-01	4.800000e-01
CYSLTR2	57105	broad.mit.edu	37	13	49281308	49281308	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281308T>C	ENST00000282018.3	+	1	358	c.355T>C	c.(355-357)Tat>Cat	p.Y119H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2			20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		Nedocromil(DB00716)	TTATTCCTTGTATGTCAACAT	0.468000																								0							SO:0001583	missense			ENST00000282018.3	1	1	hg19	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877179	0.72294	.	.	ENSG00000152207	ENST00000282018	T	0.73363	-0.74	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	D	0.85801	0.5781	M	0.75085	2.285	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.86089	0.1549	10	0.49607	T	0.09	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	119	Q9NS75	CLTR2_HUMAN	H	119	ENSP00000282018:Y119H	ENSP00000282018:Y119H	Y	+	1	0	CYSLTR2	48179309	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.262000	0.72514	2.333000	0.79357	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1	1	0	1	71	481	0	101	0	1.766620e-01	0	6	0	101	2		0	0	0	0	0	2	1	1	69	476	0	100	2								-20.000000	1	0	121412	1	30	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999924	0.990000	1	9.900000e-01	1
FNDC3A	22862	broad.mit.edu	37	13	49741418	49741418	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49741418C>A	ENST00000492622.2	+	9	1321	c.1016C>A	c.(1015-1017)cCa>cAa	p.P339Q	FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A			41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		GATCTCAAGCCAGCCATGGAT	0.303000																								0							SO:0001583	missense			ENST00000492622.2	1	1	hg19	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394644	0.83011	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.68624	-0.34;-0.34;-0.34	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.83649	0.5300	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.85438	0.1153	10	0.49607	T	0.09	-19.1357	15.8768	0.79170	0.0:1.0:0.0:0.0	.	283;339;339	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	Q	339;275;339;283	ENSP00000417257:P339Q;ENSP00000441831:P339Q;ENSP00000381362:P283Q	ENSP00000338579:P275Q	P	+	2	0	FNDC3A	48639419	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.625000	0.74248	2.427000	0.82271	0.557000	0.71058	CCA		TCGA-IB-7651-01A-11D-2154-08	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	1	0	0	31	312	0	59	1	9.998564e-01	5	132	0	59	2		0	0	0	0	0	2	1	1	32	308	0	58	2								-3.017764	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.700000	1.000000	1.000000	0.940862	0.990000	1	8.400000e-01	1
FNDC3A	22862	broad.mit.edu	37	13	49762718	49762718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49762718C>T	ENST00000492622.2	+	17	2198	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	FNDC3A_ENST00000398316.3_Silent_p.G575G|FNDC3A_ENST00000541916.1_Silent_p.G631G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A			41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		TGAATCCAGGCTGTTTCTATC	0.393000																								0							SO:0001819	synonymous_variant			ENST00000492622.2	1	1	hg19	CCDS41886.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	0	0	0	30	1098	0	220	1	9.381357e-01	9	162	0	220	2		0	0	0	0	0	2	1	1	30	1081	0	215	2								-2.890083	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.290000	0.200000	0.410000	0.300000	0.305539	0.290000	0	2.400000e-01	3.600000e-01
FNDC3A	22862	broad.mit.edu	37	13	49772216	49772216	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49772216C>T	ENST00000492622.2	+	22	2894	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	FNDC3A_ENST00000398316.3_Silent_p.S807S|FNDC3A_ENST00000541916.1_Silent_p.S863S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A			41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		AAGAAATAAGCGATGATGAGA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000492622.2	1	1	hg19	CCDS41886.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	1	0	1	79	433	0	112	1	1	25	176	0	112	2		0	0	0	0	0	2	1	1	78	425	0	109	2								-20.000000	1	1	121412	22	45	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MLNR	2862	broad.mit.edu	37	13	49794908	49794908	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49794908C>T	ENST00000218721.1	+	1	435	c.435C>T	c.(433-435)cgC>cgT	p.R145R	MLNR_ENST00000398307.1_Silent_p.R145R	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor			14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		GCCCGCTCCGCGCCCGCGTCT	0.721000																								0							SO:0001819	synonymous_variant			ENST00000218721.1	0	1	hg19	CCDS9414.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	1	0	0	4	46	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	8.931128e-01	4	46	0	7	2								-10.617220	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.840000	0.310000	1.000000	1.000000	0.793923	0.840000	0	5.300000e-01	1
MLNR	2862	broad.mit.edu	37	13	49796490	49796490	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49796490G>A	ENST00000218721.1	+	2	1216	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor			14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		CGAGACAAGCGCTAACGTGAA	0.557000																								0							SO:0001583	missense			ENST00000218721.1	0	1	hg19	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604985	0.28623	0.0	1.16E-4	ENSG00000102539	ENST00000218721	T	0.69561	-0.41	5.21	-6.04	0.02178	.	1.018280	0.07867	N	0.967326	T	0.39489	0.1080	N	0.24115	0.695	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.22277	-1.0221	10	0.16896	T	0.51	.	1.2048	0.01893	0.3972:0.0967:0.2118:0.2943	.	406	O43193	MTLR_HUMAN	T	406	ENSP00000218721:A406T	ENSP00000218721:A406T	A	+	1	0	MLNR	48694491	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.993000	0.03720	-1.521000	0.01771	-0.145000	0.13849	GCT		TCGA-IB-7651-01A-11D-2154-08	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	0	0	0	22	124	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999991e-01	22	121	0	29	2								-20.000000	1	1	121406	2	35	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.960000	1.000000	1.000000	0.997274	0.990000	1	9.900000e-01	1
CDADC1	81602	broad.mit.edu	37	13	49841720	49841720	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49841720A>C	ENST00000251108.6	+	5	638	c.525A>C	c.(523-525)aaA>aaC	p.K175N	CDADC1_ENST00000444959.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1			16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		TAGATGCCAAAGCAGTGGAAA	0.433000																								0							SO:0001583	missense			ENST00000251108.6	1	1	hg19	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670556	0.67814	.	.	ENSG00000102543	ENST00000251108	.	.	.	5.53	5.53	0.82687	Cytidine deaminase-like (1);	0.222920	0.49305	D	0.000154	T	0.60728	0.2291	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.59487	0.858;0.798	T	0.65990	-0.6034	9	0.87932	D	0	-24.7287	15.1388	0.72595	1.0:0.0:0.0:0.0	.	175;175	Q9BWV3;B2R742	CDAC1_HUMAN;.	N	175	.	ENSP00000251108:K175N	K	+	3	2	CDADC1	48739721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.576000	0.46033	2.219000	0.72066	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	1	0	1	41	330	0	78	1	9.879839e-01	18	40	0	78	2		0	0	0	0	0	2	1	1	41	325	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.890000	1.000000	1.000000	0.993230	0.990000	1	9.900000e-01	1
CDADC1	81602	broad.mit.edu	37	13	49852631	49852631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49852631C>T	ENST00000251108.6	+	7	1309	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	p.A399E(1)		16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		ATCATACATGCGGAACAGAAT	0.353000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000251108.6	1	1	hg19	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681073	0.88542	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.74737	-0.87;-0.87	5.62	4.78	0.61160	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	H	0.96333	3.805	0.54753	D	0.999986	D	0.63880	0.993	P	0.58172	0.834	D	0.91630	0.5318	10	0.87932	D	0	-8.5006	13.5488	0.61719	0.0:0.9251:0.0:0.0749	.	399	Q9BWV3	CDAC1_HUMAN	V	399;201	ENSP00000251108:A399V;ENSP00000407226:A201V	ENSP00000251108:A399V	A	+	2	0	CDADC1	48750632	1.000000	0.71417	0.374000	0.26016	0.842000	0.47809	7.101000	0.76997	1.370000	0.46153	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	1	0	1	105	540	0	144	1	9.383760e-01	4	21	0	144	2		0	0	0	0	0	2	1	1	104	534	0	143	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF11	51131	broad.mit.edu	37	13	50080886	50080886	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50080886T>G	ENST00000378319.3	+	2	251	c.210T>G	c.(208-210)aaT>aaG	p.N70K	PHF11_ENST00000357596.3_Missense_Mutation_p.N31K|PHF11_ENST00000488958.1_Missense_Mutation_p.N31K	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11			4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		CTCATGAGAATTGTTTGGTAA	0.343000																								0							SO:0001583	missense			ENST00000378319.3	1	1	hg19	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216685	0.58452	.	.	ENSG00000136147	ENST00000378319;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.55	0.94	0.19513	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.75085	2.285	0.43355	D	0.99542	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.73020	-0.4114	10	0.35671	T	0.21	-29.6694	6.4155	0.21714	0.0:0.3386:0.0:0.6614	.	70;70	B4DTX8;Q9UIL8	.;PHF11_HUMAN	K	70;31;31;31;31	ENSP00000367570:N70K;ENSP00000350209:N31K;ENSP00000420129:N31K;ENSP00000405227:N31K;ENSP00000417539:N31K	ENSP00000350209:N31K	N	+	3	2	PHF11	48978887	0.956000	0.32656	0.998000	0.56505	0.993000	0.82548	-0.295000	0.08298	0.088000	0.17205	0.528000	0.53228	AAT		TCGA-IB-7651-01A-11D-2154-08	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	1	0	1	20	106	0	27	1	9.999957e-01	22	98	0	27	2		0	0	0	0	0	2	1	9.999972e-01	20	105	0	27	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.960000	1.000000	1.000000	0.997181	0.990000	1	9.900000e-01	1
RCBTB1	55213	broad.mit.edu	37	13	50125569	50125569	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50125569T>C	ENST00000378302.2	-	8	1007	c.747A>G	c.(745-747)acA>acG	p.T249T	RCBTB1_ENST00000546015.1_Silent_p.T249T|RCBTB1_ENST00000258646.3_Silent_p.T249T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1			16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		AGCCCTCATCTGTTAGTGCTA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000378302.2	1	1	hg19	CCDS9418.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	1	0	1	64	245	0	50	1	9.999961e-01	14	59	0	50	2		0	0	0	0	0	2	1	1	63	240	0	49	2								-20.000000	1	1	121412	1	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RCBTB1	55213	broad.mit.edu	37	13	50141409	50141409	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50141409C>T	ENST00000378302.2	-	3	267	c.7G>A	c.(7-9)Gat>Aat	p.D3N	RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N|RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1			16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		TTTCCGACATCCACCATGACT	0.468000																								0							SO:0001583	missense			ENST00000378302.2	1	1	hg19	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	C	36	5.873139	0.97049	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	T;T;T	0.47528	1.07;1.07;0.84	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.66939	2.045	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.67189	-0.5733	10	0.87932	D	0	-22.2148	20.1466	0.98079	0.0:1.0:0.0:0.0	.	3	Q8NDN9	RCBT1_HUMAN	N	3	ENSP00000258646:D3N;ENSP00000367552:D3N;ENSP00000443293:D3N	ENSP00000258646:D3N	D	-	1	0	RCBTB1	49039410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.396000	0.79891	2.779000	0.95612	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	1	0	1	39	287	0	82	1	9.214913e-01	8	26	0	82	2		0	0	0	0	0	2	1	1	37	282	0	79	2								-3.221917	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.940000	1.000000	1.000000	0.996961	0.990000	1	9.900000e-01	1
EBPL	84650	broad.mit.edu	37	13	50235155	50235155	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50235155T>G	ENST00000242827.6	-	4	620	c.570A>C	c.(568-570)gaA>gaC	p.E190D	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like			21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)			TTTTCTTGAGTTCTAGCCATG	0.408000													NSCLC(39;857 1083 36109 42364 51411)											0							SO:0001583	missense			ENST00000242827.6	1	1	hg19	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932681	0.34096	.	.	ENSG00000123179	ENST00000242827	D	0.98207	-4.79	5.61	0.32	0.15878	.	0.239187	0.43110	D	0.000610	D	0.94847	0.8335	L	0.47016	1.485	0.80722	D	1	B	0.16166	0.016	B	0.17433	0.018	D	0.87792	0.2619	10	0.25751	T	0.34	-3.3949	6.6785	0.23108	0.0:0.2645:0.1192:0.6163	.	190	Q9BY08	EBPL_HUMAN	D	190	ENSP00000242827:E190D	ENSP00000242827:E190D	E	-	3	2	EBPL	49133156	0.571000	0.26659	0.994000	0.49952	0.958000	0.62258	0.552000	0.23376	0.139000	0.18822	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	1	0	1	42	243	0	51	1	1	47	274	0	51	2		0	0	0	0	0	2	1	1	41	240	0	50	2								-19.782120	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999817	0.990000	1	9.900000e-01	1
EBPL	84650	broad.mit.edu	37	13	50237284	50237284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50237284T>C	ENST00000242827.6	-	3	339	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_Missense_Mutation_p.T97A|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000378272.5_Intron	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like			21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)			GACACAATGGTTGGATCAAAA	0.403000													NSCLC(39;857 1083 36109 42364 51411)											0							SO:0001583	missense			ENST00000242827.6	1	1	hg19	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929148	0.52759	.	.	ENSG00000123179	ENST00000378284;ENST00000242827;ENST00000378282	D;D	0.97906	-4.6;-4.6	5.9	4.64	0.57946	.	0.231295	0.41938	N	0.000799	D	0.97084	0.9047	L	0.56280	1.765	0.80722	D	1	D	0.63046	0.992	P	0.59056	0.851	D	0.94759	0.7934	10	0.16896	T	0.51	-7.7929	9.3337	0.38038	0.0:0.1056:0.0:0.8944	.	97	Q9BY08	EBPL_HUMAN	A	91;97;91	ENSP00000242827:T97A;ENSP00000367531:T91A	ENSP00000242827:T97A	T	-	1	0	EBPL	49135285	0.999000	0.42202	0.025000	0.17156	0.902000	0.53008	3.147000	0.50639	0.941000	0.37499	0.454000	0.30748	ACC		TCGA-IB-7651-01A-11D-2154-08	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	1	0	1	111	357	0	73	1	1	44	79	0	73	2		0	0	0	0	0	2	1	1	110	353	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNASEH2B	79621	broad.mit.edu	37	13	51522132	51522132	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:51522132T>C	ENST00000336617.3	+	8	1025	c.626T>C	c.(625-627)aTt>aCt	p.I209T	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B			5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)			GAGGATTATATTCGTTATGCC	0.303000																								0							SO:0001583	missense			ENST00000336617.3	1	1	hg19	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384921	0.25031	.	.	ENSG00000136104	ENST00000336617;ENST00000539292;ENST00000422660	D;D	0.96619	-4.07;-4.07	5.77	5.77	0.91146	.	0.521832	0.22594	N	0.058050	D	0.89708	0.6793	N	0.08118	0	0.32135	N	0.586234	B;B	0.27380	0.177;0.01	B;B	0.23419	0.039;0.046	D	0.87590	0.2490	10	0.17832	T	0.49	-4.4388	13.4717	0.61285	0.0:0.0:0.0:1.0	.	209;209	G3XAJ1;Q5TBB1	.;RNH2B_HUMAN	T	209	ENSP00000337623:I209T;ENSP00000389877:I209T	ENSP00000337623:I209T	I	+	2	0	RNASEH2B	50420133	1.000000	0.71417	0.222000	0.23844	0.985000	0.73830	5.866000	0.69590	2.197000	0.70478	0.455000	0.32223	ATT		TCGA-IB-7651-01A-11D-2154-08	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	1	0	1	135	506	0	175	1	1	35	138	0	175	2		0	0	0	0	0	2	1	1	135	497	0	173	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDFY2	115825	broad.mit.edu	37	13	52234790	52234790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52234790G>A	ENST00000298125.5	+	2	376	c.196G>A	c.(196-198)Gca>Aca	p.A66T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2			16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)			CGTATACCATGCAATGCCTTG	0.393000																								0							SO:0001583	missense			ENST00000298125.5	1	1	hg19	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283920	0.23392	.	.	ENSG00000139668	ENST00000298125	T	0.66815	-0.23	5.76	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.604669	0.19296	N	0.117770	T	0.31231	0.0790	N	0.01109	-1.01	0.21416	N	0.999693	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.34782	T	0.22	-0.1294	5.7799	0.18299	0.237:0.1387:0.6243:0.0	.	66	Q96P53	WDFY2_HUMAN	T	66	ENSP00000298125:A66T	ENSP00000298125:A66T	A	+	1	0	WDFY2	51132791	0.957000	0.32711	0.487000	0.27428	0.946000	0.59487	1.290000	0.33319	0.353000	0.24079	0.557000	0.71058	GCA		TCGA-IB-7651-01A-11D-2154-08	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	1	0	0	35	386	0	99	1	6.322350e-01	4	21	0	99	2		0	0	0	0	0	2	1	1	34	380	0	98	2								-10.369320	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.920000	0.660000	1.000000	1.000000	0.903661	0.920000	1	7.800000e-01	1
CCDC70	83446	broad.mit.edu	37	13	52439824	52439824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52439824G>T	ENST00000242819.4	+	2	606	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70			15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)			CTGGAAAGAGGAAAAATCCTT	0.473000																								0							SO:0001587	stop_gained			ENST00000242819.4	0	1	hg19	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603293	0.46423	.	.	ENSG00000123171	ENST00000242819	.	.	.	5.83	-0.0301	0.13915	.	0.323654	0.26688	N	0.023011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-2.8378	5.4271	0.16431	0.4361:0.0:0.4358:0.1281	.	.	.	.	X	104	.	ENSP00000242819:E104X	E	+	1	0	CCDC70	51337825	0.962000	0.33011	0.000000	0.03702	0.000000	0.00434	1.555000	0.36277	-0.092000	0.12417	-0.768000	0.03414	GAA		TCGA-IB-7651-01A-11D-2154-08	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	1	0	0	57	566	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	55	562	0	132	2								-16.419350	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.780000	1.000000	1.000000	0.962248	0.990000	1	8.900000e-01	1
ATP7B	540	broad.mit.edu	37	13	52524499	52524499	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52524499G>A	ENST00000242839.4	-	10	2640	c.2484C>T	c.(2482-2484)ggC>ggT	p.G828G	ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000418097.2_Silent_p.G828G|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.G717G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000417240.2_Silent_p.G100G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide			55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGACGATATCGCCCCGCTGCA	0.567000									Wilson disease															0							SO:0001819	synonymous_variant	Familial Cancer Database		ENST00000242839.4	1	1	hg19	CCDS41892.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	1	0	1	48	244	0	66	1	9.593982e-01	7	22	0	66	2		0	0	0	0	0	2	1	1	45	240	0	66	2								-3.252253	1	1	121188	45	48	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
ALG11	440138	broad.mit.edu	37	13	52593140	52593140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593140C>A	ENST00000521508.1	+	2	141	c.136C>A	c.(136-138)Cta>Ata	p.L46I	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase			13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)			CAGACTGCTGCTACAGAGAAA	0.373000																								0							SO:0001583	missense			ENST00000521508.1	1	1	hg19	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276529	0.23307	.	.	ENSG00000253710	ENST00000521508	T	0.77358	-1.09	5.74	4.9	0.64082	.	0.594535	0.15138	U	0.278440	T	0.58075	0.2097	N	0.21545	0.675	0.42626	D	0.993367	B	0.13145	0.007	B	0.14023	0.01	T	0.48875	-0.8996	10	0.06236	T	0.91	.	5.5891	0.17291	0.2614:0.5861:0.0:0.1524	.	46	Q2TAA5	ALG11_HUMAN	I	46	ENSP00000430236:L46I	ENSP00000430236:L46I	L	+	1	2	ALG11	51491141	0.990000	0.36364	0.508000	0.27688	0.860000	0.49131	0.250000	0.18235	1.437000	0.47472	0.643000	0.83706	CTA		TCGA-IB-7651-01A-11D-2154-08	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	0	0	0	13	480	0	62	1	6.298442e-01	2	76	0	62	2		0	0	0	0	0	2	1	9.995119e-01	13	475	0	62	2								-3.047819	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.290000	0.160000	0.480000	0.290000	0.312550	0.290000	0	2.200000e-01	3.900000e-01
ALG11	440138	broad.mit.edu	37	13	52593269	52593269	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593269C>A	ENST00000521508.1	+	2	270	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase			13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)			TTTAAGAGCCCTGCAGAAAAA	0.313000																								0							SO:0001583	missense			ENST00000521508.1	1	1	hg19	CCDS31977.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053525	0.55218	.	.	ENSG00000253710	ENST00000521508	D	0.87966	-2.32	5.65	2.51	0.30379	.	0.000000	0.64402	U	0.000018	D	0.90410	0.6998	L	0.61218	1.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.73708	0.981	D	0.88716	0.3226	10	0.51188	T	0.08	.	9.3483	0.38122	0.1211:0.7344:0.0:0.1445	.	89	Q2TAA5	ALG11_HUMAN	M	89	ENSP00000430236:L89M	ENSP00000430236:L89M	L	+	1	2	ALG11	51491270	0.993000	0.37304	0.999000	0.59377	0.992000	0.81027	3.044000	0.49830	0.724000	0.32296	0.579000	0.79373	CTG		TCGA-IB-7651-01A-11D-2154-08	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	1	0	1	45	238	0	47	1	9.996885e-01	13	54	0	47	2		0	0	0	0	0	2	1	1	44	234	0	47	2								-3.162218	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
ALG11	440138	broad.mit.edu	37	13	52598190	52598190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52598190C>T	ENST00000521508.1	+	3	329	c.324C>T	c.(322-324)aaC>aaT	p.N108N	ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron|UTP14C_ENST00000521776.2_5'Flank	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase			13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)			TTAATGTCAACGGTCAACAGA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000521508.1	1	1	hg19	CCDS31977.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	1	0	1	71	318	0	89	1	9.982281e-01	15	30	0	89	2		0	0	0	0	0	2	1	1	68	306	0	88	2								-20.000000	1	1	121412	2	37	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UTP14C	9724	broad.mit.edu	37	13	52603460	52603460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603460C>T	ENST00000521776.2	+	2	1253	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)			32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)			TGAACATGCGCTCAGTGGCTG	0.527000																								0							SO:0001583	missense			ENST00000521776.2	1	1	hg19	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	2.359	-0.346969	0.05208	.	.	ENSG00000253797	ENST00000521776	T	0.18810	2.19	2.46	0.519	0.17035	.	0.328689	0.30365	N	0.009795	T	0.08133	0.0203	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.23261	-1.0193	10	0.20519	T	0.43	-3.1721	1.2538	0.01988	0.2225:0.4149:0.2187:0.1439	.	174	Q5TAP6	UT14C_HUMAN	F	174	ENSP00000428619:L174F	ENSP00000428619:L174F	L	+	1	0	UTP14C	51501461	0.000000	0.05858	0.741000	0.31004	0.880000	0.50808	-0.181000	0.09740	-0.036000	0.13669	0.448000	0.29417	CTC		TCGA-IB-7651-01A-11D-2154-08	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	1	0	0	66	342	0	84	1	9.985759e-01	12	41	0	84	2		0	0	0	0	0	2	1	1	64	335	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
UTP14C	9724	broad.mit.edu	37	13	52603992	52603992	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603992T>C	ENST00000521776.2	+	2	1785	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)			32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)			GGCACAGAAGTGGAAGAACTC	0.522000																								0							SO:0001583	missense			ENST00000521776.2	1	1	hg19	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	T	8.706	0.910884	0.17833	.	.	ENSG00000253797	ENST00000521776	T	0.16597	2.33	2.58	-3.34	0.04943	.	0.572465	0.18972	N	0.126118	T	0.04679	0.0127	N	0.03608	-0.345	0.20489	N	0.999899	B	0.16802	0.019	B	0.17433	0.018	T	0.34329	-0.9833	9	.	.	.	-8.024	3.9033	0.09171	0.4944:0.1773:0.0:0.3283	.	351	Q5TAP6	UT14C_HUMAN	A	351	ENSP00000428619:V351A	.	V	+	2	0	UTP14C	51501993	0.848000	0.29623	0.004000	0.12327	0.148000	0.21650	1.724000	0.38064	-0.691000	0.05135	-0.795000	0.03280	GTG		TCGA-IB-7651-01A-11D-2154-08	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	1	0	1	87	324	0	82	1	9.999449e-01	11	45	0	82	2		0	0	0	0	0	2	1	1	84	317	0	82	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEK5	341676	broad.mit.edu	37	13	52657437	52657437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52657437G>A	ENST00000355568.4	-	17	1670	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5			39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)			TGATGGACAGGCAGGTTACTC	0.433000																								0							SO:0001583	missense			ENST00000355568.4	1	1	hg19	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347691	0.11126	.	.	ENSG00000197168	ENST00000355568	T	0.69806	-0.43	5.42	2.24	0.28232	.	0.415847	0.19497	N	0.112832	T	0.53142	0.1778	L	0.51422	1.61	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.33777	-0.9855	10	0.10902	T	0.67	.	8.3384	0.32228	0.2948:0.0:0.7052:0.0	.	511	Q6P3R8	NEK5_HUMAN	S	511	ENSP00000347767:P511S	ENSP00000347767:P511S	P	-	1	0	NEK5	51555438	0.160000	0.22878	0.027000	0.17364	0.124000	0.20399	0.615000	0.24329	0.644000	0.30656	0.455000	0.32223	CCT		TCGA-IB-7651-01A-11D-2154-08	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	1	0	1	58	314	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	1	58	307	0	91	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
NEK5	341676	broad.mit.edu	37	13	52684547	52684547	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52684547C>T	ENST00000355568.4	-	7	536		c.e7-1			NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5			39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)			GAAAAATGTTCTATAAATGGA	0.363000																								0							SO:0001630	splice_region_variant			ENST00000355568.4	1	1	hg19	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607818	0.66558	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK5	51582548	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	7.383000	0.79741	2.361000	0.80049	0.460000	0.39030	.		TCGA-IB-7651-01A-11D-2154-08	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	1	0	0	34	352	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	34	346	0	88	2								-3.075755	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.970000	0.690000	1.000000	1.000000	0.932597	0.970000	1	8.200000e-01	1
NEK5	341676	broad.mit.edu	37	13	52686441	52686441	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52686441A>C	ENST00000355568.4	-	5	414	c.275T>G	c.(274-276)aTc>aGc	p.I92S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5			39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)			TTGTCTATTGATCCTTTTCAT	0.358000																								0							SO:0001583	missense			ENST00000355568.4	1	1	hg19	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949068	0.53186	.	.	ENSG00000197168	ENST00000355568	T	0.70986	-0.53	5.29	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081433	0.50627	D	0.000119	D	0.85758	0.5771	M	0.91406	3.205	0.42125	D	0.991441	D	0.89917	1.0	D	0.80764	0.994	D	0.87643	0.2523	10	0.87932	D	0	.	11.2021	0.48747	0.9276:0.0:0.0724:0.0	.	92	Q6P3R8	NEK5_HUMAN	S	92	ENSP00000347767:I92S	ENSP00000347767:I92S	I	-	2	0	NEK5	51584442	1.000000	0.71417	0.899000	0.35326	0.390000	0.30446	8.200000	0.89733	0.954000	0.37851	0.383000	0.25322	ATC		TCGA-IB-7651-01A-11D-2154-08	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	0	0	0	14	341	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	9.997273e-01	14	333	0	77	2								-14.692540	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.440000	0.250000	0.690000	0.430000	0.461813	0.440000	0	3.400000e-01	5.700000e-01
THSD1	55901	broad.mit.edu	37	13	52952067	52952067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952067C>T	ENST00000258613.4	-	5	2216	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T	THSD1_ENST00000544466.1_Missense_Mutation_p.A301T|THSD1_ENST00000349258.4_Missense_Mutation_p.A627T	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1			30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			GAGCTGTAGGCAGGGGCCTGC	0.597000																								0							SO:0001583	missense			ENST00000258613.4	1	1	hg19	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	5.369	0.253253	0.10185	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.31247	2.23;1.5;2.42	5.55	-2.05	0.07321	.	0.689879	0.14610	N	0.309077	T	0.18759	0.0450	L	0.40543	1.245	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.14023	0.01;0.006	T	0.14531	-1.0469	10	0.46703	T	0.11	-2.5637	2.9248	0.05780	0.1065:0.3323:0.1151:0.4461	.	627;680	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	T	627;301;680	ENSP00000340650:A627T;ENSP00000438512:A301T;ENSP00000258613:A680T	ENSP00000258613:A680T	A	-	1	0	THSD1	51850068	0.000000	0.05858	0.015000	0.15790	0.078000	0.17371	-0.176000	0.09811	-0.899000	0.03901	-0.267000	0.10333	GCC		TCGA-IB-7651-01A-11D-2154-08	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3	1	0	1	50	217	0	49	0	3.937533e-01	0	7	0	49	2		0	0	0	0	0	2	1	1	49	207	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
THSD1	55901	broad.mit.edu	37	13	52952422	52952422	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952422G>A	ENST00000258613.4	-	5	1861	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	THSD1_ENST00000544466.1_Silent_p.D182D|THSD1_ENST00000349258.4_Silent_p.D508D	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1			30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			CAATGGCAGTGTCTGTCAGGG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000258613.4	1	1	hg19	CCDS9432.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3	1	0	0	76	814	0	155	0	4.008816e-02	0	4	0	155	2		0	0	0	0	0	2	1	1	76	792	0	154	2								-18.309400	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.950000	0.750000	1.000000	1.000000	0.934794	0.950000	1	8.500000e-01	1
VPS36	51028	broad.mit.edu	37	13	52991255	52991255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52991255G>A	ENST00000378060.4	-	12	954	c.927C>T	c.(925-927)ggC>ggT	p.G309G		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)			17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			TTACCATGACGCCACTGTCAA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000378060.4	1	1	hg19	CCDS9434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3	1	0	1	28	135	0	45	0	9.999184e-01	1	75	0	45	2		0	0	0	0	0	2	1	1	27	134	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999599	0.990000	1	9.900000e-01	1
VPS36	51028	broad.mit.edu	37	13	53007820	53007820	+	Nonsense_Mutation	SNP	C	C	A	rs144817587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53007820C>A	ENST00000378060.4	-	6	532	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	p.E169K(1)		17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			TTGTCAGTTTCTTTTCTTTTT	0.343000																								1	Substitution - Missense(1)						SO:0001587	stop_gained			ENST00000378060.4	0	1	hg19	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	36	5.669719	0.96754	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-1.1812	19.1901	0.93663	0.0:1.0:0.0:0.0	.	.	.	.	X	169	.	ENSP00000367299:E169X	E	-	1	0	VPS36	51905821	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.307000	0.78920	2.776000	0.95493	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3	1	0	1	41	197	0	67	1	9.999935e-01	3	87	0	67	2		0	0	0	0	0	2	1	1	41	190	0	67	2								-19.998220	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
HNRNPA1L2	144983	broad.mit.edu	37	13	53217583	53217583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53217583G>T	ENST00000357495.2	+	1	1016	c.956G>T	c.(955-957)aGa>aTa	p.R319I	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R319I			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2			7					AGTGGCAGAAGATTTTAATTA	0.493000																								0							SO:0001583	missense			ENST00000357495.2	1	1	hg19	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013350	0.35511	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	T;T;T	0.70631	-0.5;-0.5;-0.5	0.352	0.352	0.16051	.	.	.	.	.	D	0.84097	0.5397	H	0.95982	3.75	0.37038	D	0.897007	D	0.55605	0.972	P	0.55011	0.766	D	0.88224	0.2899	8	0.87932	D	0	.	.	.	.	.	319	Q32P51	RA1L2_HUMAN	I	319	ENSP00000341285:R319I;ENSP00000381119:R319I;ENSP00000350090:R319I	ENSP00000341285:R319I	R	+	2	0	HNRNPA1L2	52115584	0.120000	0.22244	0.981000	0.43875	0.425000	0.31504	1.288000	0.33296	0.455000	0.26910	0.089000	0.15464	AGA		TCGA-IB-7651-01A-11D-2154-08	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	1	0	0	37	213	0	46	0	4.018646e-01	1	8	0	46	2		0	0	0	0	0	2	1	1	36	205	0	56	2								-20.000000	1	1	115934	1	30	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999655	0.990000	1	9.900000e-01	1
LECT1	11061	broad.mit.edu	37	13	53282672	53282672	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282672T>C	ENST00000377962.3	-	6	866	c.788A>G	c.(787-789)cAt>cGt	p.H263R	LECT1_ENST00000448904.2_Splice_Site_p.H263R			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1			15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			GGAACGCACATGATAAGGATT	0.488000																								0							SO:0001630	splice_region_variant			ENST00000377962.3	1	0	hg19	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	T	8.299	0.819505	0.16607	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.28666	1.61;1.6	5.06	5.06	0.68205	.	0.094720	0.64402	D	0.000001	T	0.39886	0.1095	M	0.64997	1.995	0.49051	D	0.999742	P;P	0.41848	0.763;0.651	P;B	0.44990	0.466;0.276	T	0.37502	-0.9703	10	0.66056	D	0.02	.	15.114	0.72384	0.0:0.0:0.0:1.0	.	263;263	O75829-2;O75829	.;LECT1_HUMAN	R	263	ENSP00000388576:H263R;ENSP00000367198:H263R	ENSP00000367198:H263R	H	-	2	0	LECT1	52180673	1.000000	0.71417	0.998000	0.56505	0.042000	0.13812	5.407000	0.66363	2.044000	0.60594	0.454000	0.30748	CAT		TCGA-IB-7651-01A-11D-2154-08	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3	1	0	0	46	234	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	46	225	0	34	2								-19.999940	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
LECT1	11061	broad.mit.edu	37	13	53282814	53282814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282814C>T	ENST00000377962.3	-	6	724	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	LECT1_ENST00000448904.2_Missense_Mutation_p.V216M			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1			15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			TTTCTTACCACTTCTCTTCTT	0.383000																								0							SO:0001583	missense			ENST00000377962.3	1	1	hg19	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465972	0.26335	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.30448	1.53;1.53	5.06	2.1	0.27182	.	0.620299	0.17456	N	0.173615	T	0.12475	0.0303	N	0.08118	0	0.20196	N	0.999925	B;B	0.14012	0.004;0.009	B;B	0.08055	0.003;0.002	T	0.14783	-1.0460	10	0.42905	T	0.14	.	2.1607	0.03824	0.1872:0.4807:0.1188:0.2133	.	216;216	O75829-2;O75829	.;LECT1_HUMAN	M	216	ENSP00000388576:V216M;ENSP00000367198:V216M	ENSP00000367198:V216M	V	-	1	0	LECT1	52180815	0.013000	0.17824	0.943000	0.38184	0.997000	0.91878	-0.300000	0.08243	0.545000	0.28902	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3	1	0	1	75	523	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	1	73	515	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
PCDH8	5100	broad.mit.edu	37	13	53419069	53419069	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419069C>A	ENST00000377942.3	-	3	3043		c.e3-1		PCDH8_ENST00000338862.4_Splice_Site	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8			36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			GCCCACAGTCCTAATACGAAA	0.552000													GBM(36;25 841 9273 49207)											0							SO:0001630	splice_region_variant			ENST00000377942.3	1	1	hg19	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938520	0.52972	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH8	52317070	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	7.487000	0.81328	2.700000	0.92200	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	0	16	240	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.999374e-01	16	238	0	47	2								-3.018714	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.690000	0.420000	1.000000	1.000000	0.713651	0.690000	0	5.400000e-01	8.800000e-01
PCDH8	5100	broad.mit.edu	37	13	53419603	53419603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419603G>A	ENST00000377942.3	-	2	2999	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	PCDH8_ENST00000338862.4_Silent_p.S835S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8			36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			GAGCGTCCCCGCTGATGTCGG	0.522000													GBM(36;25 841 9273 49207)											0							SO:0001819	synonymous_variant			ENST00000377942.3	1	1	hg19	CCDS9438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	0	22	371	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.999985e-01	21	363	0	60	2								-3.074951	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.620000	0.400000	0.890000	0.620000	0.640817	0.620000	0	5.000000e-01	7.600000e-01
PCDH8	5100	broad.mit.edu	37	13	53420462	53420462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53420462C>T	ENST00000377942.3	-	1	2313	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8			36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			CTGACAGTTGCGGTGGTGGTG	0.711000													GBM(36;25 841 9273 49207)											0							SO:0001583	missense			ENST00000377942.3	0	1	hg19	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777492	0.96929	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.50548	0.74;0.74	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.160212	0.29293	N	0.012575	T	0.63343	0.2503	L	0.60845	1.875	0.58432	D	0.999994	D;D	0.65815	0.994;0.995	P;D	0.63192	0.857;0.912	T	0.67879	-0.5556	10	0.66056	D	0.02	.	17.0134	0.86412	0.0:1.0:0.0:0.0	.	704;704	O95206-2;O95206	.;PCDH8_HUMAN	T	704;704;230;547	ENSP00000367177:A704T;ENSP00000341350:A704T	ENSP00000341350:A704T	A	-	1	0	PCDH8	52318463	1.000000	0.71417	0.246000	0.24233	0.995000	0.86356	6.772000	0.75001	2.234000	0.73211	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	0	19	89	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999942e-01	19	87	0	11	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.980000	1.000000	1.000000	0.997988	0.990000	1	9.900000e-01	1
PCDH8	5100	broad.mit.edu	37	13	53422137	53422137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422137G>A	ENST00000377942.3	-	1	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_ENST00000338862.4_Silent_p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	p.S145S(1)		36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			CCGCACCCTCGGACACCTCTA	0.711000													GBM(36;25 841 9273 49207)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000377942.3	1	1	hg19	CCDS9438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	1	44	194	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	43	191	0	39	2								-3.377336	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
PCDH8	5100	broad.mit.edu	37	13	53422316	53422316	+	Missense_Mutation	SNP	C	C	T	rs113194848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422316C>T	ENST00000377942.3	-	1	459	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8			36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			CCGGCGTCCCCGACGGTCAGC	0.647000													GBM(36;25 841 9273 49207)											0							SO:0001583	missense			ENST00000377942.3	1	1	hg19	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962254	0.74016	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.25912	1.77;1.77	4.99	4.99	0.66335	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.41605	D	0.000849	T	0.41789	0.1174	L	0.33624	1.015	0.50039	D	0.999842	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.20338	-1.0278	10	0.41790	T	0.15	.	18.3006	0.90162	0.0:1.0:0.0:0.0	.	86;86	O95206-2;O95206	.;PCDH8_HUMAN	R	86	ENSP00000367177:G86R;ENSP00000341350:G86R	ENSP00000341350:G86R	G	-	1	0	PCDH8	52320317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.654000	0.46699	2.337000	0.79520	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	1	0	0	21	467	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	9.999975e-01	21	464	0	65	2								-2.931779	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.480000	0.300000	0.700000	0.480000	0.496091	0.480000	0	3.800000e-01	5.900000e-01
PCDH8	5100	broad.mit.edu	37	13	53422634	53422634	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422634G>A	ENST00000377942.3	-	0	141				PCDH8_ENST00000338862.4_De_novo_Start_OutOfFrame	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8			36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			CAGGTCGGGCGTCAGTCTCAG	0.627000													GBM(36;25 841 9273 49207)											0											ENST00000377942.3	0	1	hg19	CCDS9438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	0	0	0	14	75	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.998388e-01	14	75	0	19	2								-19.999980	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.860000	1.000000	1.000000	0.991185	0.990000	1	9.900000e-01	1
PCDH17	27253	broad.mit.edu	37	13	58207971	58207971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58207971G>A	ENST00000377918.3	+	1	1317	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17			120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)			CCGCCCGCTGGACCGCGAGAC	0.647000													Melanoma(72;952 1291 1619 12849 33676)											0							SO:0001583	missense			ENST00000377918.3	1	1	hg19	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394096	0.62066	.	.	ENSG00000118946	ENST00000377918	T	0.63417	-0.04	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83940	0.5363	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85928	0.1450	9	.	.	.	.	19.8477	0.96722	0.0:0.0:1.0:0.0	.	431;431	O14917-2;O14917	.;PCD17_HUMAN	N	431	ENSP00000367151:D431N	.	D	+	1	0	PCDH17	57105972	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	9.864000	0.99589	2.704000	0.92352	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	1	0	0	35	142	0	32	0	2.660938e-01	0	5	0	32	2		0	0	0	0	0	2	1	1	35	141	0	31	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
DIAPH3	81624	broad.mit.edu	37	13	60348321	60348321	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60348321A>C	ENST00000400324.4	-	27	3540		c.e27+1		DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000400319.1_Splice_Site|DIAPH3_ENST00000400330.1_Splice_Site	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3			46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)			ACGGTTTATTACCATGGTTAC	0.313000																								0							SO:0001630	splice_region_variant			ENST00000400324.4	1	1	hg19	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.855191	0.71719	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7538	0.78009	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH3	59246322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.137000	0.66172	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	0	0	1	35	239	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1	34	235	0	56	2								-15.702240	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.970000	1.000000	1.000000	0.997931	0.990000	1	9.900000e-01	1
DIAPH3	81624	broad.mit.edu	37	13	60686224	60686224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60686224C>A	ENST00000400324.4	-	3	530	c.310G>T	c.(310-312)Gca>Tca	p.A104S	DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3			46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)			AAAGGTGCTGCTGAGCAATCA	0.408000																								0							SO:0001583	missense			ENST00000400324.4	1	1	hg19	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.030165	0.00410	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	T;T;T;T;T	0.80393	-1.37;-1.37;-1.35;-0.98;-1.37	4.24	1.8	0.24995	.	0.720518	0.12749	N	0.442318	T	0.51398	0.1672	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37549	-0.9701	10	0.15952	T	0.53	.	4.2547	0.10712	0.663:0.2219:0.1151:0.0	.	93;93;104	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	S	104;104;93;93;93;93;104;104	ENSP00000383178:A104S;ENSP00000383184:A104S;ENSP00000367141:A93S;ENSP00000383174:A93S;ENSP00000267215:A104S	ENSP00000267215:A104S	A	-	1	0	DIAPH3	59584225	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.732000	0.26072	0.080000	0.16959	-0.262000	0.10625	GCA		TCGA-IB-7651-01A-11D-2154-08	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	1	0	1	126	687	0	161	0	2.444364e-02	0	2	0	161	2		0	0	0	0	0	2	1	1	125	668	0	159	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH20	64881	broad.mit.edu	37	13	61986877	61986877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986877G>A	ENST00000409186.1	-	5	3460	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V			Q8N6Y1	PCD20_HUMAN	protocadherin 20			58		Breast(118;0.195)|Prostate(109;0.229)			GGTGAAAAACGCAATGGGAGT	0.413000																								0							SO:0001583	missense			ENST00000409186.1	1	1	hg19	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240802	0.79912	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60548	0.18;0.18	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	T	0.77798	0.4184	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78991	-0.1985	10	0.87932	D	0	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	452	A8K1K9	.	V	452;452;198	ENSP00000387250:A452V;ENSP00000386653:A452V	ENSP00000351500:A198V	A	-	2	0	PCDH20	60884878	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.751000	0.98889	2.808000	0.96608	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	1	0	1	91	397	1	90	1	2.368264e-01	3	2	1	90	2		0	0	0	0	0	2	1	1	89	396	1	90	18								-20.000000	1	1	121412	2	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH20	64881	broad.mit.edu	37	13	61987229	61987229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61987229C>A	ENST00000409186.1	-	5	3108	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L			Q8N6Y1	PCD20_HUMAN	protocadherin 20			58		Breast(118;0.195)|Prostate(109;0.229)			GGGGTGCCCACTGTAGCATTC	0.458000																								0							SO:0001583	missense			ENST00000409186.1	1	1	hg19	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684406	0.14907	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59502	0.26;0.26	5.76	5.76	0.90799	.	0.114954	0.38663	N	0.001605	T	0.39306	0.1073	L	0.28115	0.83	0.30609	N	0.759682	B	0.09022	0.002	B	0.14578	0.011	T	0.29882	-0.9997	10	0.19147	T	0.46	.	6.7269	0.23361	0.0:0.686:0.1652:0.1488	.	335	A8K1K9	.	L	335;335;81	ENSP00000387250:V335L;ENSP00000386653:V335L	ENSP00000351500:V81L	V	-	1	0	PCDH20	60885230	0.990000	0.36364	1.000000	0.80357	0.648000	0.38561	2.585000	0.46111	2.732000	0.93576	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	1	0	1	72	376	0	89	0	0	0	1	0	89	2		0	0	0	0	0	2	1	1	72	369	0	89	2								-20.000000	1	1	121412	1	36	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PCDH9	5101	broad.mit.edu	37	13	66879090	66879090	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:66879090A>G	ENST00000377865.2	-	4	3545	c.3411T>C	c.(3409-3411)ggT>ggC	p.G1137G	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Silent_p.G1103G|PCDH9_ENST00000456367.1_Silent_p.G1103G|PCDH9_ENST00000544246.1_Silent_p.G1137G			Q9HC56	PCDH9_HUMAN	protocadherin 9			103		Hepatocellular(98;0.0906)|Breast(118;0.107)			TATCAGAGTGACCCAAAACCA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000377865.2	1	1	hg19	CCDS9444.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	1	0	1	42	252	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	41	246	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999733	0.990000	1	9.900000e-01	1
PCDH9	5101	broad.mit.edu	37	13	67801996	67801996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67801996C>T	ENST00000377865.2	-	1	711	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M|PCDH9_ENST00000544246.1_Missense_Mutation_p.V193M|PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M			Q9HC56	PCDH9_HUMAN	protocadherin 9			103		Hepatocellular(98;0.0906)|Breast(118;0.107)			GGAGTTTCCACGATATCCAGT	0.423000																								0							SO:0001583	missense			ENST00000377865.2	1	1	hg19	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470820	0.43942	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	L	0.39467	1.215	0.58432	D	0.999999	D;D;D;D	0.76494	0.997;0.999;0.998;0.999	P;D;D;D	0.66847	0.887;0.928;0.912;0.947	T	0.67749	-0.5590	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	193;193;193;193	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	193	ENSP00000442186:V193M;ENSP00000367096:V193M;ENSP00000401699:V193M;ENSP00000332060:V193M;ENSP00000367092:V193M	ENSP00000332060:V193M	V	-	1	0	PCDH9	66699997	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	1	0	1	154	626	0	162	0	5.564707e-01	1	8	0	162	2		0	0	0	0	0	2	1	1	151	619	0	161	2								-20.000000	1	1	121412	1	24	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH9	5101	broad.mit.edu	37	13	67802202	67802202	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67802202C>A	ENST00000377865.2	-	1	505	c.371G>T	c.(370-372)aGg>aTg	p.R124M	PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M|PCDH9_ENST00000544246.1_Missense_Mutation_p.R124M|PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M			Q9HC56	PCDH9_HUMAN	protocadherin 9			103		Hepatocellular(98;0.0906)|Breast(118;0.107)			TTTGATCAGCCTGAAGAAATC	0.398000																								0							SO:0001583	missense			ENST00000377865.2	1	1	hg19	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647499	0.47258	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55930	0.54;0.54;0.49;0.49;0.51	5.94	5.94	0.96194	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.85197	2.74	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.77557	0.94;0.976;0.99;0.976	T	0.79638	-0.1720	10	0.87932	D	0	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	124;124;124;124	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	124	ENSP00000442186:R124M;ENSP00000367096:R124M;ENSP00000401699:R124M;ENSP00000332060:R124M;ENSP00000367092:R124M	ENSP00000332060:R124M	R	-	2	0	PCDH9	66700203	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.816000	0.96949	0.561000	0.74099	AGG		TCGA-IB-7651-01A-11D-2154-08	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	0	0	0	19	450	0	108	0	2.501045e-02	0	6	0	108	2		0	0	0	0	0	2	1	9.999895e-01	19	442	0	107	2								-4.077222	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.450000	0.280000	0.670000	0.450000	0.468918	0.450000	0	3.600000e-01	5.700000e-01
KLHL1	57626	broad.mit.edu	37	13	70293595	70293595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70293595C>T	ENST00000377844.4	-	9	2680	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1			84		Breast(118;0.000162)			GTGGCCACTCCGACACCCCCT	0.448000																								0							SO:0001583	missense			ENST00000377844.4	1	1	hg19	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150594	0.94645	0.0	1.16E-4	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.82711	-1.64;-1.64	5.82	5.82	0.92795	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000018	D	0.91192	0.7225	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91300	0.5066	10	0.87932	D	0	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	641;641	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	641;448	ENSP00000367075:G641R;ENSP00000439602:G448R	ENSP00000367075:G641R	G	-	1	0	KLHL1	69191596	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.739000	0.93911	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	1	0	0	28	368	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	28	364	0	76	2								-2.598635	1	1	121402	1	30	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.780000	0.530000	1.000000	1.000000	0.795470	0.780000	0	6.500000e-01	9.400000e-01
KLHL1	57626	broad.mit.edu	37	13	70413134	70413134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70413134G>T	ENST00000377844.4	-	6	2147	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1			84		Breast(118;0.000162)			TCCTCCTACAGCATACAAAGT	0.343000																								0							SO:0001583	missense			ENST00000377844.4	1	1	hg19	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859769	0.91433	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.80214	-1.35;-1.35	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.199083	0.35096	N	0.003456	D	0.93719	0.7993	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	D	0.95790	0.8824	10	0.87932	D	0	.	18.9658	0.92695	0.0:0.0:1.0:0.0	.	463;463	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	463;270	ENSP00000367075:A463D;ENSP00000439602:A270D	ENSP00000367075:A463D	A	-	2	0	KLHL1	69311135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.752000	0.98900	2.565000	0.86533	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	1	0	1	22	147	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	9.999989e-01	21	143	0	68	2								-11.988470	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.880000	1.000000	1.000000	0.993020	0.990000	1	9.900000e-01	1
KLHL1	57626	broad.mit.edu	37	13	70681635	70681635	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70681635C>A	ENST00000377844.4	-	1	956	c.197G>T	c.(196-198)aGc>aTc	p.S66I	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1			84		Breast(118;0.000162)			CCAGAAAGTGCTCACACCGCT	0.592000																								0							SO:0001583	missense			ENST00000377844.4	1	1	hg19	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967163	0.34754	.	.	ENSG00000150361	ENST00000377844	T	0.73152	-0.72	5.19	5.19	0.71726	.	4.515440	0.00357	N	0.000035	T	0.65533	0.2700	N	0.22421	0.69	0.80722	D	1	B;B	0.24823	0.112;0.047	B;B	0.19148	0.024;0.024	T	0.16897	-1.0387	10	0.48119	T	0.1	.	15.6983	0.77517	0.0:1.0:0.0:0.0	.	66;66	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	66	ENSP00000367075:S66I	ENSP00000367075:S66I	S	-	2	0	KLHL1	69579636	0.996000	0.38824	1.000000	0.80357	0.844000	0.47949	5.094000	0.64523	2.435000	0.82474	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	1	0	1	86	381	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	84	375	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DACH1	1602	broad.mit.edu	37	13	72049848	72049848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:72049848C>A	ENST00000359684.2	-	10	2165	c.2166G>T	c.(2164-2166)agG>agT	p.R722S	DACH1_ENST00000305425.4_Missense_Mutation_p.R670S|DACH1_ENST00000354591.4_Missense_Mutation_p.R468S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1			41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)			CATTTAAGACCCTGAGACTAT	0.388000																								0							SO:0001583	missense			ENST00000359684.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	14.86	2.660850	0.47572	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.35236	1.34;1.4;1.39;1.32	5.1	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.24229	N	0.995409	D;D;B	0.65815	0.989;0.995;0.383	D;D;P	0.76575	0.985;0.988;0.542	T	0.35301	-0.9794	10	0.66056	D	0.02	-12.8608	8.7276	0.34478	0.0:0.708:0.0:0.292	.	466;520;668	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	S	670;522;468;722;722	ENSP00000304994:R670S;ENSP00000318506:R522S;ENSP00000346604:R468S;ENSP00000352712:R722S	ENSP00000304994:R670S	R	-	3	2	DACH1	70947849	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.668000	0.25127	0.273000	0.22049	-0.119000	0.15052	AGG		TCGA-IB-7651-01A-11D-2154-08	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	0	0	1	200	862	1	248	0	1.643118e-01	0	4	1	248	2		0	0	0	0	0	2	1	1	198	845	1	247	16								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLF5	688	broad.mit.edu	37	13	73636671	73636671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:73636671C>T	ENST00000377687.4	+	2	1470	c.934C>T	c.(934-936)Cca>Tca	p.P312S	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P221S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)			17		Prostate(6;0.00187)|Breast(118;0.0735)			GCCTGGAAGTCCAGATAGACA	0.493000																								0							SO:0001583	missense			ENST00000377687.4	1	1	hg19	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656232	0.67586	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.12039	2.96;2.72	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00468	-1.1721	10	0.54805	T	0.06	.	20.3085	0.98641	0.0:1.0:0.0:0.0	.	312	Q13887	KLF5_HUMAN	S	221;312;292	ENSP00000440407:P221S;ENSP00000366915:P312S	ENSP00000366915:P312S	P	+	1	0	KLF5	72534672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.797000	0.96272	0.555000	0.69702	CCA		TCGA-IB-7651-01A-11D-2154-08	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1	1	0	1	61	414	0	98	1	1	405	638	0	98	2		0	0	0	0	0	2	1	1	60	405	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999817	0.990000	1	9.900000e-01	1
KLF12	11278	broad.mit.edu	37	13	74420163	74420163	+	Silent	SNP	G	G	A	rs141339758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:74420163G>A	ENST00000377669.2	-	3	497	c.471C>T	c.(469-471)ggC>ggT	p.G157G	KLF12_ENST00000377666.4_Silent_p.G157G|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12			16		Prostate(6;0.00217)|Breast(118;0.0838)			AAAACTGCTGGCCTCCAACAC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000377669.2	1	1	hg19	CCDS9449.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	1	0	1	26	142	0	52	0	9.510507e-01	1	29	0	52	2		0	0	0	0	0	2	1	9.999999e-01	26	138	0	52	2								-4.189255	1	1	121406	42	47	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.998798	0.990000	1	9.900000e-01	1
TBC1D4	9882	broad.mit.edu	37	13	75876437	75876437	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:75876437G>T	ENST00000377636.3	-	16	3199	c.2853C>A	c.(2851-2853)tcC>tcA	p.S951S	TBC1D4_ENST00000377625.2_Silent_p.S888S|TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4			50		Prostate(6;0.014)|Breast(118;0.0982)			GTTCCTTATAGGATATGTCAG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000377636.3	1	1	hg19	CCDS41901.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	1	0	1	55	326	0	96	1	9.891999e-01	2	42	0	96	2		0	0	0	0	0	2	1	1	54	321	0	95	2								-2.746000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
COMMD6	170622	broad.mit.edu	37	13	76104365	76104365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76104365C>T	ENST00000377615.3	-	4	256	c.92G>A	c.(91-93)aGc>aAc	p.S31N	COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N|COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6			3		Breast(118;0.0979)|Prostate(6;0.122)			AGTGTCTGAGCTCACAGCCAT	0.383000																								0							SO:0001583	missense			ENST00000377615.3	1	1	hg19	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545648	0.86022	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.09	5.09	0.68999	COMM domain (1);	0.040721	0.85682	D	0.000000	T	0.38852	0.1056	.	.	.	0.58432	D	0.999999	D;D	0.64830	0.994;0.993	D;D	0.66716	0.946;0.91	T	0.22068	-1.0227	9	0.72032	D	0.01	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	31;31	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	N	31;31;46;31	ENSP00000385660:S31N;ENSP00000366841:S31N;ENSP00000366845:S46N;ENSP00000348054:S31N	ENSP00000348054:S31N	S	-	2	0	COMMD6	75002366	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.591000	0.67536	2.525000	0.85131	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	1	0	0	19	396	0	81	1	1	46	621	0	81	2		0	0	0	0	0	2	1	9.999893e-01	19	387	0	80	2								-19.423370	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.510000	0.320000	0.750000	0.500000	0.528621	0.510000	0	4.000000e-01	6.400000e-01
LMO7	4008	broad.mit.edu	37	13	76369557	76369557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76369557G>A	ENST00000341547.4	+	6	1754	c.494G>A	c.(493-495)aGa>aAa	p.R165K	LMO7_ENST00000357063.3_Missense_Mutation_p.R165K|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7			56		Breast(118;0.0992)			ACTGACAGGAGAGTGAAAAAT	0.303000																								0							SO:0001583	missense			ENST00000341547.4	1	1	hg19	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835958	0.91117	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.56	5.87	5.87	0.94306	.	0.050469	0.85682	D	0.000000	T	0.67711	0.2922	L	0.42245	1.32	0.54753	D	0.999989	P;D;D	0.71674	0.682;0.998;0.996	P;D;D	0.80764	0.692;0.994;0.987	T	0.57768	-0.7754	10	0.06757	T	0.87	-21.8128	20.1991	0.98252	0.0:0.0:1.0:0.0	.	74;165;113	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	K	165;165;165;113;74	ENSP00000342112:R165K;ENSP00000349571:R165K;ENSP00000366757:R165K;ENSP00000366719:R113K;ENSP00000431129:R74K	ENSP00000342112:R165K	R	+	2	0	LMO7	75267558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.690000	0.84178	2.775000	0.95449	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	1	0	1	59	350	0	89	1	1	76	140	0	89	2		0	0	0	0	0	2	1	1	59	348	0	89	2								-3.222763	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
LMO7	4008	broad.mit.edu	37	13	76379826	76379826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76379826G>A	ENST00000321797.8	+	7	1148	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	LMO7_ENST00000357063.3_Missense_Mutation_p.E428K|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7			56		Breast(118;0.0992)			TTGGACCCCAGAAGATGTGAA	0.413000																								0							SO:0001583	missense			ENST00000321797.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	31	5.073856	0.94000	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	6.06	6.06	0.98353	.	0.054132	0.64402	D	0.000001	T	0.77003	0.4067	M	0.62723	1.935	0.54753	D	0.999985	D	0.76494	0.999	P	0.61874	0.895	T	0.75816	-0.3184	10	0.56958	D	0.05	-25.5359	20.6208	0.99490	0.0:0.0:1.0:0.0	.	143	E9PLH4	.	K	428;428;143;143;143	ENSP00000349571:E428K;ENSP00000366757:E428K;ENSP00000317802:E143K;ENSP00000433352:E143K;ENSP00000432269:E143K	ENSP00000317802:E143K	E	+	1	0	LMO7	75277827	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	8.598000	0.90852	2.882000	0.98803	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	1	0	1	206	1077	0	307	0	2.605491e-02	1	1	0	307	2		0	0	0	0	0	2	1	1	203	1060	0	305	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMO7	4008	broad.mit.edu	37	13	76395671	76395671	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76395671T>C	ENST00000321797.8	+	12	2588	c.1867T>C	c.(1867-1869)Tta>Cta	p.L623L	LMO7_ENST00000357063.3_Silent_p.L908L|LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000341547.4_Silent_p.L574L			Q8WWI1	LMO7_HUMAN	LIM domain 7			56		Breast(118;0.0992)			TACAGTCAGGTTAACATCTGT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000321797.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.22	1.573555	0.28092	.	.	ENSG00000136153	ENST00000447038	.	.	.	5.91	3.44	0.39384	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	-11.9249	4.7432	0.13024	0.1283:0.2078:0.0:0.6639	.	.	.	.	A	531	.	.	V	+	2	0	LMO7	75293672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.822000	0.39052	0.465000	0.27167	0.528000	0.53228	GTT		TCGA-IB-7651-01A-11D-2154-08	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	1	0	0	17	316	0	57	1	9.999609e-01	40	286	0	57	2		0	0	0	0	0	2	1	9.999648e-01	17	312	0	57	2								-5.198378	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.570000	0.340000	0.850000	0.560000	0.589577	0.570000	0	4.500000e-01	7.200000e-01
LMO7	4008	broad.mit.edu	37	13	76429476	76429476	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76429476G>A	ENST00000321797.8	+	27	4764	c.4043G>A	c.(4042-4044)gGt>gAt	p.G1348D	LMO7_ENST00000357063.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Missense_Mutation_p.G1299D			Q8WWI1	LMO7_HUMAN	LIM domain 7			56		Breast(118;0.0992)			GAGTCCCTGGGTCTTTGTTAT	0.493000																								0							SO:0001583	missense			ENST00000321797.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	32	5.117643	0.94385	.	.	ENSG00000136153	ENST00000341547;ENST00000321797;ENST00000526202	D;D;D	0.87256	-2.23;-2.23;-2.23	5.99	5.99	0.97316	.	0.159223	0.56097	D	0.000033	D	0.92811	0.7714	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92382	0.5914	10	0.66056	D	0.02	-23.5131	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1225;1299	E9PMS6;Q8WWI1-3	.;.	D	1299;1348;1225	ENSP00000342112:G1299D;ENSP00000317802:G1348D;ENSP00000431129:G1225D	ENSP00000317802:G1348D	G	+	2	0	LMO7	75327477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	1	0	1	31	147	0	34	1	1	153	250	0	34	2		0	0	0	0	0	2	1	1	30	141	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999794	0.990000	1	9.900000e-01	1
KCTD12	115207	broad.mit.edu	37	13	77459400	77459400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77459400C>T	ENST00000377474.2	-	1	1125	c.884G>A	c.(883-885)aGc>aAc	p.S295N	KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12			4		Breast(118;0.212)			GCCCGTGGAGCTGCACGCCAC	0.622000											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000377474.2	1	1	hg19	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222536	0.09863	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.39997	1.05;1.05	4.84	4.84	0.62591	.	0.117523	0.85682	N	0.000000	T	0.23054	0.0557	N	0.16098	0.37	0.44719	D	0.997712	B	0.18166	0.026	B	0.15052	0.012	T	0.07986	-1.0744	10	0.02654	T	1	.	14.0984	0.65039	0.0:0.802:0.198:0.0	.	295	Q96CX2	KCD12_HUMAN	N	295	ENSP00000366694:S295N;ENSP00000317141:S295N	ENSP00000317141:S295N	S	-	2	0	KCTD12	76357401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.987000	0.29603	2.399000	0.81585	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	1	0	1	31	117	0	23	0	1	0	253	0	23	2		0	0	0	0	0	2	1	1	31	115	0	23	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999946	0.990000	1	9.900000e-01	1
KCTD12	115207	broad.mit.edu	37	13	77460047	77460047	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77460047G>A	ENST00000377474.2	-	1	478	c.237C>T	c.(235-237)cgC>cgT	p.R79R	KCTD12_ENST00000317765.2_Silent_p.R79R|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12			4		Breast(118;0.212)			CCAGAAAGAAGCGGCCTTTGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000377474.2	1	1	hg19	CCDS9455.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	1	0	0	23	99	0	16	0	9.999908e-01	0	89	0	16	2		0	0	0	0	0	2	1	9.999997e-01	23	99	0	16	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999393	0.990000	1	9.900000e-01	1
CLN5	1203	broad.mit.edu	37	13	77570262	77570262	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77570262G>T	ENST00000377453.3	+	3	2004	c.712G>T	c.(712-714)Gga>Tga	p.G238*	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5			16		Acute lymphoblastic leukemia(28;0.205)			AACTATATCAGGTAAGTTGTG	0.338000																								0							SO:0001630	splice_region_variant			ENST00000377453.3	0	1	hg19	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	G	47	13.781606	0.99763	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6383	19.3321	0.94295	0.0:0.0:1.0:0.0	.	.	.	.	X	238;189;104	.	ENSP00000366673:G238X	G	+	1	0	CLN5	76468263	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.476000	0.97823	2.581000	0.87130	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	0	0	0	22	526	0	128	1	9.667165e-01	7	128	0	128	2		0	0	0	0	0	2	1	9.999986e-01	22	520	0	128	2								-2.844251	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.450000	0.290000	0.650000	0.450000	0.462773	0.450000	0	3.600000e-01	5.500000e-01
FBXL3	26224	broad.mit.edu	37	13	77595939	77595939	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77595939C>A	ENST00000355619.5	-	2	381	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3			16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)			TCTTGGATTTCTCTGCAGTTC	0.383000																								0							SO:0001583	missense			ENST00000355619.5	1	1	hg19	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133939	0.37630	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.35789	1.45;1.29	5.96	1.71	0.24356	.	0.332847	0.34906	N	0.003593	T	0.13114	0.0318	N	0.08118	0	0.40094	D	0.976287	B	0.02656	0.0	B	0.01281	0.0	T	0.09058	-1.0692	10	0.17369	T	0.5	-17.2596	1.574	0.02621	0.1378:0.3734:0.1359:0.3529	.	19	Q9UKT7	FBXL3_HUMAN	D	19	ENSP00000347834:E19D;ENSP00000412183:E19D	ENSP00000347834:E19D	E	-	3	2	FBXL3	76493940	0.999000	0.42202	0.999000	0.59377	0.931000	0.56810	1.126000	0.31344	0.397000	0.25310	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3	1	0	1	142	622	0	141	1	9.999999e-01	25	78	0	141	2		0	0	0	0	0	2	1	1	141	612	0	140	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77625140	77625140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77625140C>T	ENST00000544440.2	-	82	13816	c.13799G>A	c.(13798-13800)tGt>tAt	p.C4600Y	MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.C4638Y					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			ACCTGCAGGACAGTGTGGTAG	0.318000																								0							SO:0001583	missense			ENST00000544440.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.4	4.286163	0.80803	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.62105	0.05;0.05;0.05	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.89287	3.02	0.80722	D	1	D	0.57571	0.98	D	0.71656	0.974	D	0.85873	0.1417	10	0.87932	D	0	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	4600	O75592	MYCB2_HUMAN	Y	4600;4638;4600	ENSP00000349892:C4600Y;ENSP00000384288:C4638Y;ENSP00000444596:C4600Y	ENSP00000349892:C4600Y	C	-	2	0	MYCBP2	76523141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.627000	0.88993	0.655000	0.94253	TGT		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1	35	255	0	60	1	9.999804e-01	17	106	0	60	2	1	9.988849e-01	14	64	0	69	2	1	1	35	245	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.930000	1.000000	1.000000	0.996244	0.990000	1	9.900000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77632491	77632491	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77632491G>A	ENST00000544440.2	-	78	13094	c.13077C>T	c.(13075-13077)tgC>tgT	p.C4359C	MYCBP2_ENST00000357337.6_Silent_p.C4359C|MYCBP2_ENST00000407578.2_Silent_p.C4397C					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			TAACACCCCCGCATGGATGGC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000544440.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.636	1.137802	0.21123	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.42	-1.34	0.09143	.	.	.	.	.	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56269	-0.8007	4	.	.	.	.	12.2985	0.54860	0.5067:0.0:0.4933:0.0	.	.	.	.	W	780	.	.	R	-	1	2	MYCBP2	76530492	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	1.315000	0.33608	-0.201000	0.10284	-0.482000	0.04802	CGG		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	0	62	338	0	65	1	9.999865e-01	15	75	0	65	2	1	1	56	299	0	243	2	1	1	62	328	0	64	2								-2.971752	1	1	121412	2	32	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77635368	77635368	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77635368G>T	ENST00000544440.2	-	76	12875	c.12858C>A	c.(12856-12858)ttC>ttA	p.F4286L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.F4324L					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			CCATCAACCAGAACAATTTGG	0.368000																								0							SO:0001583	missense			ENST00000544440.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.461572|3.461572	0.63513|0.63513	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.29397|.	1.57;1.57;1.57|.	6.17|6.17	4.44|4.44	0.53790|0.53790	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.52573|0.52573	1.65|1.65	0.58432|0.58432	D|D	0.999994|0.999994	P|.	0.49447|.	0.924|.	P|.	0.60682|.	0.878|.	T|T	0.54957|0.54957	-0.8215|-0.8215	10|5	0.87932|.	D|.	0|.	.|.	10.2374|10.2374	0.43290|0.43290	0.2053:0.0:0.7947:0.0|0.2053:0.0:0.7947:0.0	.|.	4286|.	O75592|.	MYCB2_HUMAN|.	L|M	4286;4324;4286|707	ENSP00000349892:F4286L;ENSP00000384288:F4324L;ENSP00000444596:F4286L|.	ENSP00000349892:F4286L|.	F|L	-|-	3|1	2|2	MYCBP2|MYCBP2	76533369|76533369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.666000|2.666000	0.46799|0.46799	0.923000|0.923000	0.37045|0.37045	0.655000|0.655000	0.94253|0.94253	TTC|CTG		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1	51	297	0	36	1	9.997193e-01	8	65	0	36	2	1	1	113	745	0	758	2	1	1	51	292	0	35	2								-3.078265	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77671856	77671856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77671856A>G	ENST00000544440.2	-	56	9336	c.9319T>C	c.(9319-9321)Tcc>Ccc	p.S3107P	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3145P					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			TTATGCATGGACATTTCAAAA	0.403000																								0							SO:0001583	missense			ENST00000544440.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.65	1.409384	0.25378	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.57	4.37	0.52481	.	0.062205	0.64402	D	0.000003	T	0.14874	0.0359	N	0.08118	0	0.43164	D	0.994955	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.06570	-1.0819	10	0.35671	T	0.21	.	7.2937	0.26380	0.7809:0.1467:0.0724:0.0	.	493;3107;3107	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	P	3107;3145;3107	ENSP00000349892:S3107P;ENSP00000384288:S3145P;ENSP00000444596:S3107P	ENSP00000349892:S3107P	S	-	1	0	MYCBP2	76569857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.173000	0.58249	0.918000	0.36919	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	0	0	15	523	0	114	1	4.589001e-01	2	51	0	114	2	1	9.990187e-01	24	378	0	319	2	1	9.998627e-01	15	517	0	113	2								-13.083940	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.310000	0.180000	0.490000	0.310000	0.327814	0.310000	0	2.400000e-01	4.000000e-01
MYCBP2	23077	broad.mit.edu	37	13	77672965	77672965	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77672965T>C	ENST00000544440.2	-	56	8227	c.8210A>G	c.(8209-8211)gAt>gGt	p.D2737G	MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G|MYCBP2_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2775G					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			CTTTGCAGCATCAGATTTTAA	0.463000																								0							SO:0001583	missense			ENST00000544440.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.17	2.754548	0.49362	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.56103	1.42;1.41;1.42;0.48	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.996;0.993	D;D;D	0.81914	0.995;0.993;0.971	T	0.63571	-0.6607	10	0.51188	T	0.08	.	15.9579	0.79902	0.0:0.0:0.0:1.0	.	123;2737;2737	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	G	2737;2775;2737;260	ENSP00000349892:D2737G;ENSP00000384288:D2775G;ENSP00000444596:D2737G;ENSP00000353197:D260G	ENSP00000349892:D2737G	D	-	2	0	MYCBP2	76570966	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.698000	0.84413	2.178000	0.69098	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	0	0	19	514	0	105	0	4.621673e-01	0	42	0	105	2	1	9.998515e-01	33	679	1	759	6	1	9.999893e-01	19	505	0	103	2								-4.049399	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.400000	0.240000	0.590000	0.390000	0.413548	0.400000	0	3.100000e-01	5.000000e-01
MYCBP2	23077	broad.mit.edu	37	13	77692486	77692486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77692486G>A	ENST00000360084.5	-	57	8287	c.584C>T	c.(583-585)cCt>cTt	p.P195L	MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000544440.2_Intron					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			CTGAAGCTGAGGCTGCTGGAA	0.463000																								0							SO:0001583	missense			ENST00000360084.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.6	4.751635	0.89753	.	.	ENSG00000005810	ENST00000360084	T	0.48836	0.8	5.83	4.97	0.65823	.	.	.	.	.	T	0.64159	0.2573	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67201	-0.5730	6	0.54805	T	0.06	.	16.5963	0.84797	0.0:0.1346:0.8654:0.0	.	.	.	.	L	195	ENSP00000353197:P195L	ENSP00000353197:P195L	P	-	2	0	MYCBP2	76590487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	1.428000	0.47296	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		0	0	1	10	60	0	16	1	6.968342e-01	3	13	0	16	2		0	0	0	0	0	2	1	9.958674e-01	9	54	0	16	2								-18.183090	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.720000	1.000000	1.000000	0.974209	0.990000	1	9.600000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77699592	77699592	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77699592A>G	ENST00000544440.2	-	54	7799	c.7782T>C	c.(7780-7782)tcT>tcC	p.S2594S	MYCBP2_ENST00000357337.6_Silent_p.S2594S|MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.S2632S					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			ATGTCCCTTCAGAATTGGTTA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000544440.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	0	1	196	863	0	244	0	9.981756e-01	1	42	0	244	2	1	1	147	530	0	648	2	1	1	191	851	0	244	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77736067	77736067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77736067C>A	ENST00000544440.2	-	44	6474	c.6457G>T	c.(6457-6459)Gaa>Taa	p.E2153*	MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.E2191*					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			TCAAGAATTTCAAGGTCTTCT	0.294000																								0							SO:0001587	stop_gained			ENST00000544440.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	47	13.314540	0.99734	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.72	5.72	0.89469	.	0.055132	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.8938	0.96942	0.0:1.0:0.0:0.0	.	.	.	.	X	2153;2191;2153	.	ENSP00000349892:E2153X	E	-	1	0	MYCBP2	76634068	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.316000	0.72857	2.703000	0.92315	0.460000	0.39030	GAA		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	0	62	308	0	78	1	9.502172e-01	2	25	0	78	2	1	1	42	348	0	366	2	1	1	61	305	0	77	2								-3.249729	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77742684	77742684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77742684G>A	ENST00000544440.2	-	40	5896	c.5879C>T	c.(5878-5880)tCg>tTg	p.S1960L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1998L					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			GCTATCTGTCGACTGATTAGG	0.493000																								0							SO:0001583	missense			ENST00000544440.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.9	4.475990	0.84640	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31769	1.48;1.48;1.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.04467	-1.0949	10	0.10111	T	0.7	.	20.0567	0.97653	0.0:0.0:1.0:0.0	.	1960	O75592	MYCB2_HUMAN	L	1960;1998;1960	ENSP00000349892:S1960L;ENSP00000384288:S1998L;ENSP00000444596:S1960L	ENSP00000349892:S1960L	S	-	2	0	MYCBP2	76640685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.752000	0.94435	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1	65	380	0	104	1	9.924028e-01	7	39	0	104	2	1	1	154	912	0	1011	2	1	1	63	369	0	104	2								-3.222695	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77779470	77779470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77779470C>T	ENST00000544440.2	-	26	3667	c.3650G>A	c.(3649-3651)cGt>cAt	p.R1217H	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1255H					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			GGCACTGAAACGTATAGCTTC	0.358000																								0							SO:0001583	missense			ENST00000544440.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.96	2.987090	0.53934	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.35973	1.28;1.28;1.28	5.01	4.16	0.48862	PHR (1);	0.071017	0.64402	D	0.000020	T	0.55321	0.1913	M	0.82323	2.585	0.58432	D	0.999996	D	0.76494	0.999	P	0.53689	0.732	T	0.65701	-0.6104	10	0.87932	D	0	.	15.345	0.74330	0.0:0.8595:0.1405:0.0	.	1217	O75592	MYCB2_HUMAN	H	1217;1255;1217	ENSP00000349892:R1217H;ENSP00000384288:R1255H;ENSP00000444596:R1217H	ENSP00000349892:R1217H	R	-	2	0	MYCBP2	76677471	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.484000	0.81180	1.090000	0.41315	-0.310000	0.09108	CGT		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	1	0	1	81	367	0	65	1	9.751542e-01	2	27	0	65	2	1	1	95	487	0	519	2	1	1	78	362	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYCBP2	23077	broad.mit.edu	37	13	77825349	77825349	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77825349C>A	ENST00000544440.2	-	15	2221	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G773V					MYC binding protein 2, E3 ubiquitin protein ligase			118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)			TGTACAGTCTCCACAGACAGT	0.493000																								0							SO:0001583	missense			ENST00000544440.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.1	4.379780	0.82682	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31247	1.51;1.5;1.51	5.53	5.53	0.82687	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55398	-0.8147	10	0.59425	D	0.04	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	735	O75592	MYCB2_HUMAN	V	735;773;735	ENSP00000349892:G735V;ENSP00000384288:G773V;ENSP00000444596:G735V	ENSP00000349892:G735V	G	-	2	0	MYCBP2	76723350	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.585000	0.87301	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	0	0	13	299	0	64	0	3.842108e-01	1	29	0	64	2	1	9.952227e-01	9	199	0	201	2	1	9.995225e-01	13	295	0	63	2								-3.008506	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.470000	0.260000	0.740000	0.460000	0.488720	0.470000	0	3.500000e-01	6.100000e-01
SLAIN1	122060	broad.mit.edu	37	13	78318553	78318553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78318553G>A	ENST00000466548.1	+	4	862	c.836G>A	c.(835-837)cGt>cAt	p.R279H	SLAIN1_ENST00000418532.1_Missense_Mutation_p.R60H|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R60H|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R16H|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R16H|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R137H|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R16H	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1			14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)			ATCATGGCTCGTCTGCAAGAA	0.433000																								0							SO:0001583	missense			ENST00000466548.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.379229	0.95945	.	.	ENSG00000139737	ENST00000422114;ENST00000466548;ENST00000389459;ENST00000418532;ENST00000442759;ENST00000446759;ENST00000488699;ENST00000377236;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000314070;ENST00000462234;ENST00000496045;ENST00000474663;ENST00000358679	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.81497	2.545	0.46260	D	0.998952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.997	D	0.84738	0.0749	9	0.87932	D	0	-16.4822	20.4496	0.99125	0.0:0.0:1.0:0.0	.	137;16;279	B7Z209;Q8ND10;Q8ND83	.;.;SLAI1_HUMAN	H	60;279;279;60;60;110;137;64;60;16;16;16;16;16;16;16	.	ENSP00000267219:R60H	R	+	2	0	SLAIN1	77216554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.473000	0.97714	2.838000	0.97847	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	1	0	0	39	238	0	55	1	9.800902e-01	11	27	0	55	2		0	0	0	0	0	2	1	1	38	228	0	53	2								-1.003962	0	0	121370	30	30	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999541	0.990000	1	9.900000e-01	1
EDNRB	1910	broad.mit.edu	37	13	78477491	78477491	+	Nonsense_Mutation	SNP	G	G	A	rs104894391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78477491G>A	ENST00000334286.5	-	3	837	c.601C>T	c.(601-603)Cga>Tga	p.R201*	EDNRB_ENST00000377211.4_Nonsense_Mutation_p.R291*|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B			42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCAACAGCTCGATATCTGAAG	0.343000																								0		GRCh37	CM020406	EDNRB	M	rs104894391	SO:0001587	stop_gained			ENST00000334286.5	0	1	hg19	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588172	0.97684	0.0	1.16E-4	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3691	14.7119	0.69238	0.0:0.0:0.8544:0.1456	.	.	.	.	X	291;201;201	.	ENSP00000335311:R201X	R	-	1	2	EDNRB	77375492	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.477000	0.60223	2.521000	0.84997	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1	1	0	0	77	413	0	132	0	9.939836e-01	0	44	0	132	2		0	0	0	0	0	2	1	1	77	411	0	131	2								-20.000000	1	1	121400	1	26	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
EDNRB	1910	broad.mit.edu	37	13	78492556	78492556	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78492556C>A	ENST00000334286.5	-	1	389	c.153G>T	c.(151-153)aaG>aaT	p.K51N	EDNRB_ENST00000377211.4_Missense_Mutation_p.K141N|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N|EDNRB_ENST00000475537.1_5'UTR	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B			42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCCATAAGGTCTTAGTGGGTG	0.632000																								0							SO:0001583	missense			ENST00000334286.5	1	1	hg19	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195525	0.22037	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.54675	0.56;0.56;0.56	4.04	2.3	0.28687	.	0.927486	0.09275	N	0.824652	T	0.38295	0.1035	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26708	0.157;0.003;0.023	B;B;B	0.24155	0.051;0.003;0.01	T	0.25293	-1.0136	10	0.35671	T	0.21	-2.4878	5.9342	0.19156	0.0:0.7641:0.0:0.2359	.	51;141;51	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	N	141;51;51	ENSP00000366416:K141N;ENSP00000403401:K51N;ENSP00000335311:K51N	ENSP00000335311:K51N	K	-	3	2	EDNRB	77390557	0.000000	0.05858	0.066000	0.19879	0.430000	0.31655	0.369000	0.20416	1.053000	0.40415	-0.194000	0.12790	AAG		TCGA-IB-7651-01A-11D-2154-08	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1	1	0	1	49	251	0	67	0	9.896307e-01	1	38	0	67	2		0	0	0	0	0	2	1	1	48	247	0	66	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
POU4F1	5457	broad.mit.edu	37	13	79175757	79175757	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79175757G>A	ENST00000377208.5	-	2	1264	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1			16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)			TCTCGCCGCCGTTGAAGAGCT	0.657000													Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)											0							SO:0001819	synonymous_variant			ENST00000377208.5	1	1	hg19	CCDS31996.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3	1	0	0	51	218	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	50	218	0	47	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
RNF219	79596	broad.mit.edu	37	13	79190301	79190301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190301G>T	ENST00000282003.6	-	6	1653	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219			32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)			AAGGTAAGCAGCATCCATCGA	0.398000																								0							SO:0001583	missense			ENST00000282003.6	1	1	hg19	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016137	0.75161	.	.	ENSG00000152193	ENST00000282003	T	0.14516	2.5	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000003	T	0.37210	0.0995	L	0.56769	1.78	0.53688	D	0.999979	D	0.89917	1.0	D	0.74023	0.982	T	0.01925	-1.1246	10	0.87932	D	0	-8.9543	20.2019	0.98263	0.0:0.0:1.0:0.0	.	532	Q5W0B1	RN219_HUMAN	D	532	ENSP00000282003:A532D	ENSP00000282003:A532D	A	-	2	0	RNF219	78088302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.934000	0.70138	2.776000	0.95493	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	1	0	0	92	595	0	153	1	9.890860e-01	9	38	0	153	2		0	0	0	0	0	2	1	1	89	587	0	153	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
RNF219	79596	broad.mit.edu	37	13	79190435	79190435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190435C>T	ENST00000282003.6	-	6	1519	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219			32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)			AATTTGCTATCGTGTTCCCCT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000282003.6	1	1	hg19	CCDS31997.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	1	0	0	46	258	0	59	1	9.428051e-01	3	26	0	59	2		0	0	0	0	0	2	1	1	45	256	0	59	2								-5.099033	1	1	121412	11	42	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999924	0.990000	1	9.900000e-01	1
RBM26	64062	broad.mit.edu	37	13	79952975	79952975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79952975T>C	ENST00000438737.2	-	2	579	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	RBM26_ENST00000438724.1_Missense_Mutation_p.K47E|RBM26_ENST00000267229.7_Missense_Mutation_p.K47E			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26			33		Acute lymphoblastic leukemia(28;0.0279)			TTTAACTCTTTTTCACTTTTG	0.299000																								0							SO:0001583	missense			ENST00000438737.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.72	2.916933	0.52546	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.41758	0.99;0.99	5.78	5.78	0.91487	Splicing factor PWI (2);	0.053396	0.64402	D	0.000001	T	0.29882	0.0747	N	0.11818	0.18	0.58432	D	0.999999	B;P;P;P	0.45348	0.065;0.827;0.856;0.827	B;B;P;B	0.45753	0.053;0.359;0.492;0.359	T	0.07947	-1.0746	9	.	.	.	-19.0217	12.0245	0.53362	0.0:0.0:0.144:0.856	.	47;47;47;47	Q5T8P6-6;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	E	47;48;47;47	ENSP00000267229:K47E;ENSP00000390222:K47E	.	K	-	1	0	RBM26	78850976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.193000	0.72075	2.214000	0.71695	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	1	0	1	36	125	0	33	1	9.999688e-01	13	47	0	33	2		0	0	0	0	0	2	1	1	35	121	0	33	2								-19.999980	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
SLITRK1	114798	broad.mit.edu	37	13	84453725	84453725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84453725C>T	ENST00000377084.2	-	1	2803	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1			80	Medulloblastoma(90;0.18)	Breast(118;0.212)			AGGATAAACACGAGCATGCCC	0.562000																								0							SO:0001583	missense			ENST00000377084.2	1	1	hg19	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111056	0.77210	.	.	ENSG00000178235	ENST00000377084	T	0.64991	-0.13	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72865	-0.4163	10	0.87932	D	0	-13.4456	18.3497	0.90335	0.0:1.0:0.0:0.0	.	640	Q96PX8	SLIK1_HUMAN	M	640	ENSP00000366288:V640M	ENSP00000366288:V640M	V	-	1	0	SLITRK1	83351726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.047000	0.71038	2.756000	0.94617	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	1	0	1	29	137	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	29	133	0	35	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999706	0.990000	1	9.900000e-01	1
SLITRK1	114798	broad.mit.edu	37	13	84454641	84454641	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84454641G>T	ENST00000377084.2	-	1	1887	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1			80	Medulloblastoma(90;0.18)	Breast(118;0.212)			TGTTAGCTAAGGGTTTGTTCC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000377084.2	1	1	hg19	CCDS9464.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	1	0	1	61	348	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	61	345	0	88	2								-2.881444	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
SLITRK1	114798	broad.mit.edu	37	13	84455008	84455008	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84455008T>G	ENST00000377084.2	-	1	1520	c.635A>C	c.(634-636)aAc>aCc	p.N212T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1			80	Medulloblastoma(90;0.18)	Breast(118;0.212)			GTCCCAAGGGTTATCCTCTAG	0.562000																								0							SO:0001583	missense			ENST00000377084.2	1	1	hg19	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981595	0.53827	.	.	ENSG00000178235	ENST00000377084	T	0.65732	-0.17	4.72	4.72	0.59763	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	H	0.98218	4.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90728	0.4640	10	0.87932	D	0	-14.4397	13.1692	0.59589	0.0:0.0:0.0:1.0	.	212	Q96PX8	SLIK1_HUMAN	T	212	ENSP00000366288:N212T	ENSP00000366288:N212T	N	-	2	0	SLITRK1	83353009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	1.992000	0.58205	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	1	0	0	23	262	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	9.999993e-01	21	258	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.890000	0.590000	1.000000	1.000000	0.876595	0.890000	1	7.300000e-01	1
SLITRK5	26050	broad.mit.edu	37	13	88328479	88328479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88328479C>A	ENST00000325089.6	+	2	1055	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5			81	all_neural(89;0.101)|Medulloblastoma(90;0.163)				GACGAGGTATCCAAGCAGGAA	0.542000																								0							SO:0001583	missense			ENST00000325089.6	1	1	hg19	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230717	0.58777	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57107	0.42;0.42	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.059456	0.64402	D	0.000002	T	0.68641	0.3023	M	0.64567	1.98	0.54753	D	0.999983	D;D	0.64830	0.994;0.988	P;D	0.64042	0.885;0.921	T	0.66412	-0.5930	9	.	.	.	-10.8497	17.464	0.87627	0.0:1.0:0.0:0.0	.	38;279	B4DSH5;O94991	.;SLIK5_HUMAN	Y	279;38	ENSP00000366283:S279Y;ENSP00000442244:S38Y	.	S	+	2	0	SLITRK5	87126480	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.765000	0.68834	2.724000	0.93272	0.491000	0.48974	TCC		TCGA-IB-7651-01A-11D-2154-08	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	1	0	1	101	457	0	110	0	2.258021e-01	0	5	0	110	2		0	0	0	0	0	2	1	1	100	452	0	109	2								-3.286154	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK5	26050	broad.mit.edu	37	13	88329162	88329162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329162C>A	ENST00000325089.6	+	2	1738	c.1519C>A	c.(1519-1521)Ctc>Atc	p.L507I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5			81	all_neural(89;0.101)|Medulloblastoma(90;0.163)				GGTCCCAAACCTCCAGCTGCT	0.527000																								0							SO:0001583	missense			ENST00000325089.6	1	1	hg19	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627042	0.66901	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;D	0.81659	-1.33;-1.52	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	D	0.88716	0.6512	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88461	0.3055	9	.	.	.	-15.8397	16.2866	0.82724	0.0:1.0:0.0:0.0	.	266;507	B4DSH5;O94991	.;SLIK5_HUMAN	I	507;266	ENSP00000366283:L507I;ENSP00000442244:L266I	.	L	+	1	0	SLITRK5	87127163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.080000	0.71299	2.426000	0.82243	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	1	0	1	82	357	0	97	0	4.605003e-01	0	8	0	97	2		0	0	0	0	0	2	1	1	81	352	0	96	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK5	26050	broad.mit.edu	37	13	88329270	88329270	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329270T>G	ENST00000325089.6	+	2	1846	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5			81	all_neural(89;0.101)|Medulloblastoma(90;0.163)				CTTCACCTCCTTGCCAGTGAG	0.512000																								0							SO:0001583	missense			ENST00000325089.6	1	1	hg19	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.415636	0.42817	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59502	0.26;0.26	5.22	-0.313	0.12754	.	0.000000	0.64402	D	0.000004	T	0.60248	0.2254	L	0.38649	1.16	0.43942	D	0.996606	D;D	0.76494	0.999;0.995	D;D	0.79784	0.993;0.971	T	0.54221	-0.8326	9	.	.	.	-8.1908	9.6475	0.39877	0.0:0.6669:0.0:0.3331	.	302;543	B4DSH5;O94991	.;SLIK5_HUMAN	V	543;302	ENSP00000366283:L543V;ENSP00000442244:L302V	.	L	+	1	2	SLITRK5	87127271	0.893000	0.30496	0.991000	0.47740	0.939000	0.58152	0.049000	0.14099	-0.041000	0.13558	-0.421000	0.06004	TTG		TCGA-IB-7651-01A-11D-2154-08	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	1	0	1	103	430	0	121	0	6.583614e-01	0	11	0	121	2		0	0	0	0	0	2	1	1	103	420	0	120	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK5	26050	broad.mit.edu	37	13	88329784	88329784	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329784A>G	ENST00000325089.6	+	2	2360	c.2141A>G	c.(2140-2142)tAc>tGc	p.Y714C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5			81	all_neural(89;0.101)|Medulloblastoma(90;0.163)				AACATGCAGTACAGCGTGTAC	0.682000																								0							SO:0001583	missense			ENST00000325089.6	1	1	hg19	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524587	0.44969	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.62	5.13	3.93	0.45458	.	0.000000	0.64402	D	0.000001	T	0.61714	0.2369	L	0.33189	0.99	0.50467	D	0.99987	D;B	0.89917	1.0;0.356	D;B	0.74674	0.984;0.043	T	0.57370	-0.7823	9	.	.	.	-9.4438	9.5331	0.39207	0.8422:0.0:0.0:0.1578	.	473;714	B4DSH5;O94991	.;SLIK5_HUMAN	C	714;473	ENSP00000366283:Y714C;ENSP00000442244:Y473C	.	Y	+	2	0	SLITRK5	87127785	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.792000	0.91856	0.757000	0.33036	0.454000	0.30748	TAC		TCGA-IB-7651-01A-11D-2154-08	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	0	0	0	16	437	0	82	0	8.330957e-03	0	4	0	82	2		0	0	0	0	0	2	1	9.999242e-01	16	428	0	81	2								-15.956900	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.390000	0.230000	0.610000	0.390000	0.412384	0.390000	0	3.100000e-01	5.100000e-01
GPC5	2262	broad.mit.edu	37	13	92101141	92101141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:92101141A>C	ENST00000377067.3	+	2	662	c.290A>C	c.(289-291)aAg>aCg	p.K97T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5			69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)			TCTACATTAAAGTTTCTAATA	0.423000																								0							SO:0001583	missense			ENST00000377067.3	1	1	hg19	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505070	0.85282	.	.	ENSG00000179399	ENST00000377067	T	0.53640	0.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.77103	2.36	0.44055	D	0.996794	D	0.76494	0.999	D	0.76575	0.988	T	0.73933	-0.3826	10	0.87932	D	0	.	14.8025	0.69926	1.0:0.0:0.0:0.0	.	97	P78333	GPC5_HUMAN	T	97	ENSP00000366267:K97T	ENSP00000366267:K97T	K	+	2	0	GPC5	90899142	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	8.887000	0.92456	2.086000	0.62901	0.383000	0.25322	AAG		TCGA-IB-7651-01A-11D-2154-08	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	1	0	1	72	321	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	72	315	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPC5	2262	broad.mit.edu	37	13	93518645	93518645	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:93518645A>T	ENST00000377067.3	+	8	2044	c.1672A>T	c.(1672-1674)Aca>Tca	p.T558S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5			69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)			TGAATCTATGACATTCACTCT	0.428000																								0							SO:0001583	missense			ENST00000377067.3	1	1	hg19	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	8.139	0.784820	0.16189	.	.	ENSG00000179399	ENST00000377067	T	0.51325	0.71	5.81	-5.13	0.02884	.	0.874487	0.09523	N	0.790567	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.20638	-1.0269	10	0.24483	T	0.36	-0.0387	7.112	0.25396	0.4492:0.0:0.436:0.1147	.	558	P78333	GPC5_HUMAN	S	558	ENSP00000366267:T558S	ENSP00000366267:T558S	T	+	1	0	GPC5	92316646	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.050000	0.14120	-1.190000	0.02698	-0.417000	0.06048	ACA		TCGA-IB-7651-01A-11D-2154-08	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	1	0	1	66	423	0	90	0	0	0	1	0	90	2		0	0	0	0	0	2	1	1	66	414	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999955	0.990000	1	9.900000e-01	1
DCT	1638	broad.mit.edu	37	13	95092163	95092163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95092163C>A	ENST00000377028.5	-	8	1962	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase			50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)			TAGGCTTCTTCTGTGTATCTC	0.438000																								0							SO:0001587	stop_gained			ENST00000377028.5	0	1	hg19	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	40	7.959632	0.98583	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	4.88	4.02	0.46733	.	0.109699	0.64402	D	0.000014	.	.	.	.	.	.	0.46631	D	0.999132	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.7436	13.6736	0.62440	0.0:0.8104:0.1896:0.0	.	.	.	.	X	517;550	.	ENSP00000366227:E517X	E	-	1	0	DCT	93890164	0.998000	0.40836	0.089000	0.20774	0.806000	0.45545	4.052000	0.57420	1.093000	0.41377	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3	1	0	1	65	365	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	64	358	0	54	2								-3.078005	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
DCT	1638	broad.mit.edu	37	13	95118886	95118886	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95118886C>A	ENST00000377028.5	-	3	1035	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	DCT_ENST00000446125.1_Missense_Mutation_p.D208Y|DCT_ENST00000490854.1_5'UTR|AL139318.1_ENST00000390768.1_RNA	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase			50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)			TGTGAGAAATCTATGGCCCTG	0.413000																								0							SO:0001583	missense			ENST00000377028.5	1	1	hg19	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953366	0.92660	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99060	-5.38;-5.38	5.7	5.7	0.88788	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.98965	1.0799	10	0.87932	D	0	-24.8267	19.8418	0.96692	0.0:1.0:0.0:0.0	.	208;208	Q09GT4;P40126	.;TYRP2_HUMAN	Y	208	ENSP00000366227:D208Y;ENSP00000392762:D208Y	ENSP00000366227:D208Y	D	-	1	0	DCT	93916887	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	7.802000	0.85969	2.685000	0.91497	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3	1	0	1	35	173	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	34	172	0	48	2								-19.379120	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999866	0.990000	1	9.900000e-01	1
DCT	1638	broad.mit.edu	37	13	95131483	95131483	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131483C>T	ENST00000377028.5	-	1	440	c.27G>A	c.(25-27)ctG>ctA	p.L9L	DCT_ENST00000446125.1_Silent_p.L9L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase			50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)			AGCAACTGAGCAGAAACCCCC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000377028.5	1	1	hg19	CCDS9470.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3	1	0	1	30	131	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	28	129	0	29	2								-20.000000	1	0	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999849	0.990000	1	9.900000e-01	1
ABCC4	10257	broad.mit.edu	37	13	95735417	95735417	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95735417T>A	ENST00000376887.4	-	21	2777	c.2663A>T	c.(2662-2664)gAt>gTt	p.D888V	ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4			43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)			Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCGCTTCACATCTCTTGACGT	0.443000																								0							SO:0001583	missense			ENST00000376887.4	1	1	hg19	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143521	0.57044	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.89552	-2.53;-2.53	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.088371	0.85682	D	0.000000	D	0.94328	0.8177	M	0.82923	2.615	0.80722	D	1	D;D	0.67145	0.987;0.996	D;D	0.69142	0.937;0.962	D	0.95043	0.8180	10	0.72032	D	0.01	.	15.202	0.73147	0.0:0.0:0.0:1.0	.	841;888	O15439-2;O15439	.;MRP4_HUMAN	V	841;888	ENSP00000388657:D841V;ENSP00000366084:D888V	ENSP00000366084:D888V	D	-	2	0	ABCC4	94533418	1.000000	0.71417	0.989000	0.46669	0.110000	0.19582	7.520000	0.81821	2.120000	0.65058	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	1	0	1	78	312	0	77	1	9.999744e-01	8	56	0	77	2		0	0	0	0	0	2	1	1	77	309	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC4	10257	broad.mit.edu	37	13	95813533	95813533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95813533C>T	ENST00000376887.4	-	19	2479	c.2365G>A	c.(2365-2367)Gtc>Atc	p.V789I	ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I|ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4			43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)			Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTAACAAGGACGTAGAATACC	0.353000																								0							SO:0001583	missense			ENST00000376887.4	1	1	hg19	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845818	0.32606	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.45	2.77	0.32553	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.171789	0.51477	N	0.000091	T	0.76630	0.4014	N	0.16266	0.395	0.38575	D	0.950049	B;B;B;B	0.18013	0.001;0.005;0.025;0.006	B;B;B;B	0.20955	0.004;0.002;0.032;0.009	T	0.65001	-0.6274	10	0.06236	T	0.91	.	11.3749	0.49722	0.0:0.8098:0.0:0.1902	.	714;742;789;789	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	742;789;714;789	ENSP00000388657:V742I;ENSP00000366084:V789I;ENSP00000442024:V714I;ENSP00000398562:V789I	ENSP00000366084:V789I	V	-	1	0	ABCC4	94611534	0.917000	0.31117	0.897000	0.35233	0.982000	0.71751	1.786000	0.38694	0.344000	0.23847	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	1	0	1	35	209	0	49	1	9.961249e-01	22	32	0	49	2		0	0	0	0	0	2	1	1	35	205	0	49	2								-17.558300	1	1	121408	1	33	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999376	0.990000	1	9.900000e-01	1
ABCC4	10257	broad.mit.edu	37	13	95886992	95886992	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95886992A>G	ENST00000376887.4	-	4	517	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	p.Y135H(2)		43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)			Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCATAGGCGTACGCTGTGTTC	0.393000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000376887.4	1	1	hg19	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	9.128	1.010584	0.19277	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	D;D;D	0.90900	-2.75;-2.75;-2.75	5.27	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.333305	0.32624	N	0.005842	D	0.94545	0.8243	M	0.90595	3.13	0.58432	D	0.999998	P;B;P;B	0.41232	0.743;0.086;0.743;0.245	P;B;P;B	0.53224	0.721;0.2;0.721;0.41	D	0.94090	0.7352	10	0.66056	D	0.02	.	10.9779	0.47478	0.9269:0.0:0.073:0.0	.	135;135;135;135	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	H	135	ENSP00000388657:Y135H;ENSP00000366084:Y135H;ENSP00000398562:Y135H	ENSP00000366084:Y135H	Y	-	1	0	ABCC4	94684993	0.993000	0.37304	0.007000	0.13788	0.038000	0.13279	4.615000	0.61190	0.851000	0.35264	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	1	0	1	25	109	0	39	1	9.981418e-01	2	45	0	39	2		0	0	0	0	0	2	1	9.999999e-01	24	104	0	39	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999579	0.990000	1	9.900000e-01	1
DZIP1	22873	broad.mit.edu	37	13	96285517	96285517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96285517C>A	ENST00000376829.2	-	6	1507	c.656G>T	c.(655-657)cGc>cTc	p.R219L	DZIP1_ENST00000361396.2_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L|DZIP1_ENST00000347108.3_Missense_Mutation_p.R219L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1			38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)		AGTGTGGCGGCGTTGAATGTG	0.408000																								0							SO:0001583	missense			ENST00000376829.2	1	1	hg19	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437293	0.83885	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.08	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.79475	2.455	0.46011	D	0.99881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.985	T	0.76285	-0.3015	10	0.87932	D	0	-7.4353	13.7411	0.62849	0.0:0.9252:0.0:0.0748	.	219;219;219	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	L	219	ENSP00000257312:R219L;ENSP00000355018:R219L;ENSP00000355175:R219L;ENSP00000366025:R219L	ENSP00000257312:R219L	R	-	2	0	DZIP1	95083518	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.759000	0.74934	1.283000	0.44513	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	1	0	0	21	238	0	47	0	7.997864e-01	0	36	0	47	2		0	0	0	0	0	2	1	9.999978e-01	21	235	0	47	2								-3.142696	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.900000	0.580000	1.000000	1.000000	0.876680	0.900000	1	7.200000e-01	1
DZIP1	22873	broad.mit.edu	37	13	96293679	96293679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96293679C>T	ENST00000376829.2	-	5	1318	c.467G>A	c.(466-468)gGc>gAc	p.G156D	DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Missense_Mutation_p.G156D|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D|DZIP1_ENST00000347108.3_Missense_Mutation_p.G156D	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1			38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)		GCTCTGCTCGCCGTCGCAGTG	0.607000																								0							SO:0001583	missense			ENST00000376829.2	1	1	hg19	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	7.319	0.616484	0.14129	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.68	1.82	0.25136	.	0.964593	0.08613	N	0.919682	T	0.39279	0.1072	L	0.47716	1.5	0.09310	N	1	P;P;P	0.40360	0.583;0.666;0.714	B;B;P	0.45428	0.29;0.348;0.48	T	0.26538	-1.0100	10	0.33940	T	0.23	3.5486	4.333	0.11073	0.0:0.3601:0.3114:0.3285	.	156;156;156	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	D	156	ENSP00000257312:G156D;ENSP00000355018:G156D;ENSP00000355175:G156D;ENSP00000366025:G156D	ENSP00000257312:G156D	G	-	2	0	DZIP1	95091680	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.044000	0.13992	0.395000	0.25257	-0.136000	0.14681	GGC		TCGA-IB-7651-01A-11D-2154-08	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	1	0	1	35	192	0	38	0	9.846208e-01	1	38	0	38	2		0	0	0	0	0	2	1	1	35	190	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999695	0.990000	1	9.900000e-01	1
DNAJC3	5611	broad.mit.edu	37	13	96409944	96409944	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96409944A>C	ENST00000602402.1	+	5	557	c.440A>C	c.(439-441)cAa>cCa	p.Q147P	DNAJC3_ENST00000376795.6_Intron	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3			15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)		GCACAGTCTCAACTTATAAAA	0.343000																								0							SO:0001583	missense			ENST00000602402.1	1	1	hg19	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798940	0.70567	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.8	4.59	0.56863	Tetratricopeptide repeat-containing (1);	0.302554	0.36893	N	0.002357	T	0.67618	0.2912	M	0.65975	2.015	0.80722	D	1	P	0.50066	0.931	P	0.55615	0.78	T	0.69094	-0.5236	9	0.59425	D	0.04	-1.706	11.7769	0.51991	0.8532:0.1468:0.0:0.0	.	147	Q13217	DNJC3_HUMAN	P	147	.	ENSP00000365991:Q147P	Q	+	2	0	DNAJC3	95207945	1.000000	0.71417	0.605000	0.28930	0.960000	0.62799	6.778000	0.75043	0.982000	0.38575	0.482000	0.46254	CAA		TCGA-IB-7651-01A-11D-2154-08	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3	1	0	1	48	213	0	51	1	1	36	126	0	51	2		0	0	0	0	0	2	1	1	48	206	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
DNAJC3	5611	broad.mit.edu	37	13	96443261	96443261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96443261A>G	ENST00000602402.1	+	12	1609	c.1492A>G	c.(1492-1494)Aga>Gga	p.R498G	DNAJC3_ENST00000376795.6_Missense_Mutation_p.R447G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3			15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)		CGGACCATTTAGATTTAAATT	0.418000																								0							SO:0001583	missense			ENST00000602402.1	1	1	hg19	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077156	0.36662	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.63	-0.607	0.11615	.	0.190440	0.56097	D	0.000030	T	0.28764	0.0713	N	0.08118	0	0.27402	N	0.95481	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.21655	-1.0239	9	0.54805	T	0.06	-20.008	17.5413	0.87849	0.5106:0.4894:0.0:0.0	.	498;498	A8KA82;Q13217	.;DNJC3_HUMAN	G	498	.	ENSP00000365991:R498G	R	+	1	2	DNAJC3	95241262	0.905000	0.30787	0.938000	0.37757	0.856000	0.48823	0.912000	0.28597	-0.154000	0.11118	-1.256000	0.01477	AGA		TCGA-IB-7651-01A-11D-2154-08	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3	1	0	1	44	472	0	106	1	9.999680e-01	16	148	0	106	2		0	0	0	0	0	2	1	1	41	464	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.940000	0.700000	1.000000	1.000000	0.923068	0.940000	1	8.100000e-01	1
MBNL2	10150	broad.mit.edu	37	13	97928576	97928576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:97928576C>T	ENST00000376673.3	+	2	868	c.87C>T	c.(85-87)cgC>cgT	p.R29R	MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R|MBNL2_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000345429.6_Silent_p.R29R			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2			17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)		CATGCTCACGCTCTGATGAAG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000376673.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	101	549	0	147	1	1	19	171	0	147	2		0	0	0	0	0	2	1	1	99	532	0	146	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBNL2	10150	broad.mit.edu	37	13	98043610	98043610	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98043610A>G	ENST00000376673.3	+	8	1810	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	MBNL2_ENST00000445661.2_Silent_p.E176E|MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000343600.4_Silent_p.E331E			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2			17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)		ACGGAATGGAATGCCAAGAAT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000376673.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	46	309	0	67	1	9.999993e-01	13	132	0	67	2		0	0	0	0	0	2	1	1	45	301	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999389	0.990000	1	9.900000e-01	1
RAP2A	5911	broad.mit.edu	37	13	98086853	98086853	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98086853G>A	ENST00000245304.4	+	1	378	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family			5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)		ACCGCAAGGAGATCGAGGTGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000245304.4	1	1	hg19	CCDS9485.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4	1	0	1	106	529	0	120	1	9.999671e-01	13	62	0	120	2		0	0	0	0	0	2	1	1	105	519	0	118	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF113B	140432	broad.mit.edu	37	13	98828993	98828993	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98828993G>A	ENST00000267291.6	-	1	526	c.498C>T	c.(496-498)aaC>aaT	p.N166N	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B			18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)		CCGAGGAGGAGTTGCCCATGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000267291.6	1	1	hg19	CCDS9486.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	1	0	1	69	299	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	69	294	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF113B	140432	broad.mit.edu	37	13	98829110	98829110	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98829110G>A	ENST00000267291.6	-	1	409	c.381C>T	c.(379-381)atC>atT	p.I127I	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B			18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)		TGCACTTGAGGATGGTCGGCG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000267291.6	1	1	hg19	CCDS9486.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	1	0	1	51	276	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	50	270	0	73	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
FARP1	10160	broad.mit.edu	37	13	99047599	99047599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99047599C>A	ENST00000319562.6	+	13	1548	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	FARP1_ENST00000376586.2_Missense_Mutation_p.P428H|FARP1_ENST00000595437.1_Missense_Mutation_p.P428H	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)			49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)		CACCCGAGCCCTGCGCCGAGG	0.672000																								0							SO:0001583	missense			ENST00000319562.6	1	1	hg19	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685884	0.68157	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.79247	-1.25;-1.07	4.59	4.59	0.56863	.	0.340804	0.30742	N	0.008966	T	0.79257	0.4415	M	0.62723	1.935	0.58432	D	0.999997	P;P	0.43287	0.8;0.802	B;B	0.44224	0.436;0.444	T	0.82307	-0.0522	10	0.56958	D	0.05	.	17.4097	0.87482	0.0:1.0:0.0:0.0	.	428;428	Q9Y4F1;C9JME2	FARP1_HUMAN;.	H	428;133;428	ENSP00000365771:P428H;ENSP00000322926:P428H	ENSP00000322926:P428H	P	+	2	0	FARP1	97845600	0.971000	0.33674	0.186000	0.23195	0.007000	0.05969	2.259000	0.43259	2.095000	0.63458	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	1	0	0	33	346	0	47	1	9.953770e-01	3	86	0	47	2		0	0	0	0	0	2	1	1	33	338	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.960000	0.680000	1.000000	1.000000	0.926334	0.960000	1	8.100000e-01	1
FARP1	10160	broad.mit.edu	37	13	99061637	99061637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99061637C>T	ENST00000319562.6	+	14	1725	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	FARP1_ENST00000376586.2_Missense_Mutation_p.S487L|FARP1_ENST00000595437.1_Missense_Mutation_p.S487L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)			49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)		TCTGTGAACTCGCAGGGGGGA	0.542000																								0							SO:0001583	missense			ENST00000319562.6	1	1	hg19	CCDS9487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245831|3.245831	0.59103|0.59103	2.27E-4|2.27E-4	0.0|0.0	ENSG00000152767|ENSG00000152767	ENST00000457029|ENST00000376586;ENST00000376584;ENST00000319562	.|T;T	.|0.79749	.|-1.3;-1.11	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.208188	.|0.43260	.|D	.|0.000592	T|T	0.79633|0.79633	0.4479|0.4479	M|M	0.64997|0.64997	1.995|1.995	0.46542|0.46542	D|D	0.999091|0.999091	.|B;B	.|0.12630	.|0.004;0.006	.|B;B	.|0.09377	.|0.001;0.004	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.51188	.|T	.|0.08	.|.	17.5056|17.5056	0.87745|0.87745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|487;487	.|Q9Y4F1;C9JME2	.|FARP1_HUMAN;.	C|L	16|487;192;487	.|ENSP00000365771:S487L;ENSP00000322926:S487L	.|ENSP00000322926:S487L	R|S	+|+	1|2	0|0	FARP1|FARP1	97859638|97859638	0.998000|0.998000	0.40836|0.40836	0.974000|0.974000	0.42286|0.42286	0.785000|0.785000	0.44390|0.44390	4.012000|4.012000	0.57131|0.57131	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CGC|TCG		TCGA-IB-7651-01A-11D-2154-08	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	1	0	1	81	256	0	66	1	1	8	86	0	66	2		0	0	0	0	0	2	1	1	79	253	0	66	2								-3.295467	1	1	121412	23	44	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FARP1	10160	broad.mit.edu	37	13	99099020	99099020	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99099020T>C	ENST00000319562.6	+	26	3270	c.3005T>C	c.(3004-3006)tTc>tCc	p.F1002S	FARP1_ENST00000376586.2_Missense_Mutation_p.F1033S|FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)			49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)		AAGCTGCACTTCAAGTCCCAC	0.577000																								0							SO:0001583	missense			ENST00000319562.6	1	1	hg19	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	T	33	5.264139	0.95399	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.11495	2.77;2.77	5.45	5.45	0.79879	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047789	0.85682	D	0.000000	T	0.28333	0.0700	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.00998	-1.1486	10	0.87932	D	0	.	15.5191	0.75851	0.0:0.0:0.0:1.0	.	1002;1033	Q9Y4F1;C9JME2	FARP1_HUMAN;.	S	1033;1002	ENSP00000365771:F1033S;ENSP00000322926:F1002S	ENSP00000322926:F1002S	F	+	2	0	FARP1	97897021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.064000	0.61679	0.454000	0.30748	TTC		TCGA-IB-7651-01A-11D-2154-08	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	1	0	1	78	370	0	96	1	1	15	175	0	96	2		0	0	0	0	0	2	1	1	77	364	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK9	23348	broad.mit.edu	37	13	99515346	99515346	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99515346A>C	ENST00000376460.1	-	32	3586	c.3506T>G	c.(3505-3507)tTt>tGt	p.F1169C	DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C|DOCK9_ENST00000461998.1_5'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9			59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				CAGCAGACCAAACAGAGGCAG	0.498000																								0							SO:0001583	missense			ENST00000376460.1	1	1	hg19	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388034	0.82902	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.04	5.04	0.67666	.	0.050998	0.85682	D	0.000000	T	0.44414	0.1292	M	0.64997	1.995	0.58432	D	0.999999	P;P;D;P;D;D	0.89917	0.933;0.928;1.0;0.515;0.988;0.999	P;P;D;B;P;P	0.85130	0.664;0.541;0.997;0.438;0.887;0.894	T	0.42616	-0.9441	10	0.87932	D	0	.	15.0737	0.72059	1.0:0.0:0.0:0.0	.	1170;1169;1170;1169;1169;1170	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	C	1169;1170;1170;1170;1169;100;1170;1181;1169	ENSP00000365643:F1169C;ENSP00000341086:F1170C;ENSP00000401958:F1181C;ENSP00000406883:F1169C	ENSP00000341086:F1170C	F	-	2	0	DOCK9	98313347	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	8.905000	0.92613	2.020000	0.59435	0.459000	0.35465	TTT		TCGA-IB-7651-01A-11D-2154-08	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	1	0	1	14	40	0	16	1	9.989239e-01	5	34	0	16	2		0	0	0	0	0	2	1	9.998702e-01	14	39	0	16	2								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.990000	0.990000	1.000000	1.000000	0.998234	0.990000	1	9.900000e-01	1
DOCK9	23348	broad.mit.edu	37	13	99667822	99667822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99667822C>T	ENST00000448493.2	-	1	151	c.41G>A	c.(40-42)cGc>cAc	p.R14H	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9			59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				AAAAACGGTGCGGATGCCTTT	0.403000																								0							SO:0001583	missense			ENST00000448493.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.66	2.898014	0.52227	.	.	ENSG00000088387	ENST00000448493	T	0.23147	1.92	5.91	5.03	0.67393	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07635	-1.0762	5	.	.	.	.	13.0188	0.58773	0.0:0.9191:0.0:0.0809	.	.	.	.	H	14	ENSP00000401958:R14H	.	R	-	2	0	DOCK9	98465823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.096000	0.57734	1.411000	0.46957	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DOCK9-203	KNOWN	basic	protein_coding	protein_coding		0	0	0	10	177	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.969587e-01	10	175	0	50	2								-3.330855	1	1	113986	2	31	1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.600000	0.310000	0.990000	1.000000	0.625345	0.600000	0	4.400000e-01	8.000000e-01
GPR183	1880	broad.mit.edu	37	13	99947758	99947758	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99947758G>T	ENST00000376414.4	-	2	725	c.642C>A	c.(640-642)atC>atA	p.I214I	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183			23					GAGAATAGCAGATGAGAATGA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000376414.4	1	1	hg19	CCDS9492.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	0	0	0	30	458	1	84	0	5.779623e-01	0	115	1	84	7		0	0	0	0	0	2	1	9.559753e-01	30	451	1	84	19								-20.000000	1	1	0	0		1	0	0	0	1.903942	0	0.170000	2.060000	1.285174e-01	0.680000	0.470000	0.930000	0.680000	0.698426	0.680000	0	5.700000e-01	8.100000e-01
HHIPL1	84439	broad.mit.edu	37	14	100119107	100119107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119107G>A	ENST00000330710.5	+	2	900	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	p.V268I(1)		15		Melanoma(154;0.128)			CAGGCTCTACGTCTACTACTC	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000330710.5	1	1	hg19	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.085047	0.55861	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.14266	2.52;2.52	4.59	3.7	0.42460	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.074462	0.53938	N	0.000051	T	0.14614	0.0353	L	0.28344	0.845	0.49389	D	0.999785	D;P	0.57257	0.979;0.831	P;B	0.51895	0.683;0.267	T	0.06373	-1.0830	10	0.20046	T	0.44	.	12.6027	0.56506	0.081:0.0:0.919:0.0	.	268;268	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	I	268	ENSP00000330601:V268I;ENSP00000349757:V268I	ENSP00000330601:V268I	V	+	1	0	HHIPL1	99188860	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.752000	0.74898	0.919000	0.36945	-0.140000	0.14226	GTC		TCGA-IB-7651-01A-11D-2154-08	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	1	0	1	47	158	0	38	1	9.969368e-01	13	20	0	38	2		0	0	0	0	0	2	1	1	46	156	0	35	2								-20.000000	1	0	121412	10	39	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HHIPL1	84439	broad.mit.edu	37	14	100119188	100119188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119188G>A	ENST00000330710.5	+	2	981	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1			15		Melanoma(154;0.128)			CGAGAACGCCGTGGACCACAG	0.602000																								0							SO:0001583	missense			ENST00000330710.5	1	1	hg19	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350023	0.61183	2.27E-4	0.0	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.12039	2.72;2.72	4.61	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.079955	0.51477	D	0.000094	T	0.40145	0.1105	M	0.85462	2.755	0.47819	D	0.999523	D;D	0.76494	0.999;0.995	D;P	0.69654	0.965;0.898	T	0.44620	-0.9316	10	0.72032	D	0.01	.	14.0064	0.64465	0.0:0.0:0.8484:0.1516	.	295;295	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	M	295	ENSP00000330601:V295M;ENSP00000349757:V295M	ENSP00000330601:V295M	V	+	1	0	HHIPL1	99188941	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	3.063000	0.49978	2.106000	0.64143	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	1	0	1	56	175	0	36	1	9.866149e-01	7	17	0	36	2		0	0	0	0	0	2	1	1	55	171	0	36	2								-4.365604	1	0	121406	5	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HHIPL1	84439	broad.mit.edu	37	14	100129317	100129317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100129317A>C	ENST00000330710.5	+	6	1705	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1			15		Melanoma(154;0.128)			CTCATCAACAACTACTACCCG	0.602000																								0							SO:0001583	missense			ENST00000330710.5	1	1	hg19	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956543	0.34565	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.13657	5.03;2.57	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.054883	0.64402	D	0.000001	T	0.07683	0.0193	N	0.04746	-0.17	0.58432	D	0.999992	B;B	0.13145	0.005;0.007	B;B	0.25614	0.062;0.006	T	0.29243	-1.0018	10	0.13470	T	0.59	.	14.5057	0.67750	1.0:0.0:0.0:0.0	.	536;536	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	T	536	ENSP00000330601:N536T;ENSP00000349757:N536T	ENSP00000330601:N536T	N	+	2	0	HHIPL1	99199070	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.474000	0.81024	1.840000	0.53500	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	1	0	1	47	282	0	90	1	9.558819e-01	4	29	0	90	2		0	0	0	0	0	2	1	1	44	275	0	90	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
CYP46A1	10858	broad.mit.edu	37	14	100158175	100158175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100158175G>A	ENST00000261835.3	+	3	363	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	RP11-543C4.3_ENST00000555875.1_lincRNA|CYP46A1_ENST00000423126.2_5'UTR	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1			25		Melanoma(154;0.0866)|all_epithelial(191;0.179)			CTCAGTCATCGTCACGAGTCC	0.532000																								0							SO:0001583	missense			ENST00000261835.3	1	1	hg19	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.791|7.791	0.711580|0.711580	0.15306|0.15306	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.68181	.|-0.31	4.32|4.32	-0.929|-0.929	0.10444|0.10444	.|.	.|0.288191	.|0.32401	.|N	.|0.006142	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.12837	.|0.008	T|T	0.17715|0.17715	-1.0360|-1.0360	5|10	.|0.09843	.|T	.|0.71	.|.	8.9458|8.9458	0.35758|0.35758	0.5097:0.0:0.4903:0.0|0.5097:0.0:0.4903:0.0	.|.	.|87	.|Q9Y6A2	.|CP46A_HUMAN	H|I	73|87	.|ENSP00000261835:V87I	.|ENSP00000261835:V87I	R|V	+|+	2|1	0|0	CYP46A1|CYP46A1	99227928|99227928	0.013000|0.013000	0.17824|0.17824	0.987000|0.987000	0.45799|0.45799	0.403000|0.403000	0.30841|0.30841	-0.464000|-0.464000	0.06688|0.06688	-0.298000|-0.298000	0.08921|0.08921	-1.119000|-1.119000	0.02030|0.02030	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1	1	0	1	64	270	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	1	64	268	0	73	2								-20.000000	1	1	121412	2	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP46A1	10858	broad.mit.edu	37	14	100187648	100187648	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100187648G>A	ENST00000261835.3	+	11	1157	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	CYP46A1_ENST00000554176.1_Silent_p.Q198Q|CYP46A1_ENST00000423126.2_Silent_p.Q254Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1			25		Melanoma(154;0.0866)|all_epithelial(191;0.179)			GGAGACTGCAGTACCTGTCCC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000261835.3	1	1	hg19	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	8.702	0.909957	0.17833	2.27E-4	0.0	ENSG00000036530	ENST00000380228	.	.	.	5.07	4.19	0.49359	.	.	.	.	.	T	0.60418	0.2267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58031	-0.7708	4	.	.	.	.	10.1049	0.42528	0.0931:0.0:0.9069:0.0	.	.	.	.	I	338	.	.	V	+	1	0	CYP46A1	99257401	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	1.296000	0.44742	-0.224000	0.12420	GTA		TCGA-IB-7651-01A-11D-2154-08	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1	1	0	1	42	195	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	40	190	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML1	2009	broad.mit.edu	37	14	100367375	100367375	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100367375C>A	ENST00000262233.6	+	9	1146	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	EML1_ENST00000327921.9_Splice_Site_p.S324Y|EML1_ENST00000334192.4_Splice_Site_p.S355Y	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1			42		Melanoma(154;0.0879)|all_epithelial(191;0.216)			TTCTCAAAATCTGTAAGTATG	0.458000																								0							SO:0001630	splice_region_variant			ENST00000262233.6	1	0	hg19	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927097	0.92389	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.30448	2.74;1.58;1.53;1.58	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.982;1.0;0.999	D;D;P;D;D	0.91635	0.998;0.994;0.839;0.999;0.996	T	0.61168	-0.7117	10	0.87932	D	0	-18.0254	19.0383	0.92987	0.0:1.0:0.0:0.0	.	324;324;336;355;355	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Y	323;324;336;355;355	ENSP00000451346:S323Y;ENSP00000327384:S324Y;ENSP00000262233:S336Y;ENSP00000334314:S355Y	ENSP00000262233:S336Y	S	+	2	0	EML1	99437128	1.000000	0.71417	0.973000	0.42090	0.908000	0.53690	7.355000	0.79434	2.491000	0.84063	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1	65	295	0	74	1	9.997061e-01	9	48	0	74	2		0	0	0	0	0	2	1	1	65	288	0	73	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML1	2009	broad.mit.edu	37	14	100404186	100404186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100404186G>A	ENST00000262233.6	+	20	2267	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	EML1_ENST00000327921.9_Missense_Mutation_p.V698M|EML1_ENST00000334192.4_Missense_Mutation_p.V729M	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1			42		Melanoma(154;0.0879)|all_epithelial(191;0.216)			AGTCGTAAGTGTGGAAACTAC	0.483000																								0							SO:0001583	missense			ENST00000262233.6	1	1	hg19	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993268	0.54041	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.18174	2.23;2.23;2.23	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	N	0.13098	0.295	0.80722	D	1	B;B;B	0.30326	0.156;0.004;0.276	B;B;B	0.39185	0.151;0.004;0.293	T	0.16958	-1.0385	10	0.40728	T	0.16	-8.1253	18.1469	0.89661	0.0:0.0:1.0:0.0	.	698;710;729	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	M	698;710;729;729	ENSP00000327384:V698M;ENSP00000262233:V710M;ENSP00000334314:V729M	ENSP00000262233:V710M	V	+	1	0	EML1	99473939	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.549000	0.82163	2.364000	0.80123	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1	80	428	0	112	1	9.999778e-01	14	70	0	112	2		0	0	0	0	0	2	1	1	79	419	0	111	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML1	2009	broad.mit.edu	37	14	100405613	100405613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100405613C>T	ENST00000262233.6	+	21	2410	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	EML1_ENST00000327921.9_Silent_p.G745G|EML1_ENST00000334192.4_Silent_p.G776G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1			42		Melanoma(154;0.0879)|all_epithelial(191;0.216)			TGTCAACAGGCGACGACTTTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000262233.6	1	1	hg19	CCDS32155.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1	62	251	0	75	1	9.999959e-01	15	62	0	75	2		0	0	0	0	0	2	1	1	63	250	0	75	2								-3.513255	1	1	121412	31	43	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YY1	7528	broad.mit.edu	37	14	100705717	100705717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100705717G>T	ENST00000262238.4	+	1	396	c.136G>T	c.(136-138)Gag>Tag	p.E46*	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor			11		Melanoma(154;0.152)			cgaggaggaggaggaggacga	0.711000																								0							SO:0001587	stop_gained			ENST00000262238.4	0	1	hg19	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	.	26.9	4.779841	0.90195	.	.	ENSG00000100811	ENST00000262238	.	.	.	1.92	0.98	0.19750	.	0.232106	0.24786	U	0.035613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.0713	0.25179	0.1539:0.0:0.8461:0.0	.	.	.	.	X	46	.	ENSP00000262238:E46X	E	+	1	0	YY1	99775470	1.000000	0.71417	0.136000	0.22124	0.761000	0.43186	2.646000	0.46630	0.152000	0.19188	0.538000	0.68166	GAG		TCGA-IB-7651-01A-11D-2154-08	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	1	0	0	12	61	0	15	1	9.961243e-01	18	35	0	15	2		0	0	0	0	0	2	1	9.994886e-01	11	64	0	13	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997232	0.990000	1	9.900000e-01	1
SLC25A29	123096	broad.mit.edu	37	14	100759254	100759254	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100759254A>G	ENST00000359232.3	-	4	578	c.278T>C	c.(277-279)cTc>cCc	p.L93P	SLC25A29_ENST00000392908.3_Silent_p.P78P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|AL157871.2_ENST00000553954.1_RNA|SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000554912.1_Missense_Mutation_p.L27P	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29			3		Melanoma(154;0.152)		L-Carnitine(DB00583)	GAACTGGTTGAGGGGCGAGTC	0.706000																								0							SO:0001583	missense			ENST00000359232.3	0	1	hg19	CCDS32156.1	.	.	.	.	.	.	.	.	.	.	A	9.282	1.048416	0.19827	.	.	ENSG00000197119	ENST00000359232;ENST00000554912;ENST00000539621;ENST00000556505;ENST00000555927;ENST00000554291	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.99	4.99	0.66335	Mitochondrial carrier domain (2);	0.498441	0.20697	N	0.087352	T	0.79592	0.4472	L	0.39326	1.205	0.80722	D	1	P	0.38788	0.647	P	0.46419	0.516	T	0.77707	-0.2487	10	0.33940	T	0.23	-8.3233	14.6953	0.69118	1.0:0.0:0.0:0.0	.	93	Q8N8R3	MCATL_HUMAN	P	93;27;27;27;27;27	ENSP00000352167:L93P;ENSP00000450913:L27P;ENSP00000442985:L27P;ENSP00000452446:L27P;ENSP00000452078:L27P;ENSP00000452324:L27P	ENSP00000352167:L93P	L	-	2	0	SLC25A29	99829007	0.989000	0.36119	0.675000	0.29917	0.023000	0.10783	2.824000	0.48088	1.883000	0.54544	0.460000	0.39030	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3	1	0	1	15	75	0	15	1	9.971130e-01	11	42	0	15	2		0	0	0	0	0	2	1	9.998767e-01	14	71	0	14	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998910	0.990000	1	9.900000e-01	1
WARS	7453	broad.mit.edu	37	14	100813093	100813093	+	Silent	SNP	G	G	A	rs141490520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100813093G>A	ENST00000355338.2	-	7	1434	c.816C>T	c.(814-816)agC>agT	p.S272S	WARS_ENST00000392882.2_Silent_p.S272S|WARS_ENST00000556645.1_Silent_p.S231S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Silent_p.S231S|WARS_ENST00000344102.5_Silent_p.S231S|WARS_ENST00000557135.1_Silent_p.S272S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase			20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)		L-Tryptophan(DB00150)	CAATGCAGTCGCTGTCAGTGA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000355338.2	1	1	hg19	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	1.204	-0.631742	0.03584	0.0	1.16E-4	ENSG00000140105	ENST00000554601	.	.	.	5.79	-5.31	0.02730	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63225	-0.6685	4	.	.	.	-5.3317	13.9893	0.64355	0.5038:0.0:0.4962:0.0	.	.	.	.	V	25	.	.	A	-	2	0	WARS	99882846	0.775000	0.28604	0.912000	0.35992	0.023000	0.10783	0.026000	0.13599	-1.029000	0.03317	-0.982000	0.02568	GCG		TCGA-IB-7651-01A-11D-2154-08	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	1	0	1	50	221	0	44	1	1	777	1769	0	44	2		0	0	0	0	0	2	1	1	50	217	0	44	2								-3.285716	1	1	121412	5	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WARS	7453	broad.mit.edu	37	14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.R106W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase			20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)		L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418000																								0							SO:0001583	missense			ENST00000355338.2	0	1	hg19	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469492	0.43839	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.67;1.57	5.46	4.57	0.56435	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.071226	0.64402	D	0.000011	T	0.75649	0.3878	M	0.88640	2.97	0.51767	D	0.99993	P	0.50819	0.939	B	0.41412	0.356	T	0.81858	-0.0739	10	0.87932	D	0	-2.1292	14.3863	0.66947	0.0715:0.0:0.9285:0.0	.	106	P23381	SYWC_HUMAN	W	106;65;106;65;106;65;65;65;106;65;65;65;106;106;140;106;106;106	ENSP00000376620:R106W;ENSP00000351481:R65W;ENSP00000347495:R106W;ENSP00000339485:R65W;ENSP00000451460:R106W;ENSP00000451887:R65W;ENSP00000451490:R65W;ENSP00000451251:R65W;ENSP00000450500:R106W;ENSP00000451599:R65W;ENSP00000452519:R65W;ENSP00000451544:R65W;ENSP00000450427:R106W;ENSP00000451349:R106W;ENSP00000450934:R140W;ENSP00000451469:R106W;ENSP00000451402:R106W;ENSP00000452550:R106W	ENSP00000339485:R65W	R	-	1	2	WARS	99896750	1.000000	0.71417	0.489000	0.27452	0.224000	0.24922	4.645000	0.61404	1.300000	0.44818	-0.150000	0.13652	CGG		TCGA-IB-7651-01A-11D-2154-08	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	1	0	0	64	261	0	59	1	1	724	1039	0	59	2		0	0	0	0	0	2	1	1	63	259	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WARS	7453	broad.mit.edu	37	14	100828156	100828156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100828156C>A	ENST00000355338.2	-	3	820	c.202G>T	c.(202-204)Gca>Tca	p.A68S	WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S|WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000344102.5_Missense_Mutation_p.A27S|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.A68S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase			20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)		L-Tryptophan(DB00150)	CTGGTAGGTGCTGGGTTCCCT	0.483000																								0							SO:0001583	missense			ENST00000355338.2	1	1	hg19	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483647	0.26598	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545;ENST00000554820;ENST00000554509;ENST00000556209;ENST00000554605	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.13;0.96;1.13;0.96;1.13;0.96;0.92;0.92;1.13;0.96;0.96;0.96;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.67	-1.88	0.07713	WHEP-TRS (1);	0.826647	0.11454	N	0.562476	T	0.21062	0.0507	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.29366	-1.0014	10	0.06891	T	0.86	-1.0898	2.7529	0.05286	0.109:0.4165:0.1068:0.3677	.	68	P23381	SYWC_HUMAN	S	68;27;68;27;68;27;27;27;68;27;27;27;68;68;102;68;68;68;68;68;68;102;68;68	ENSP00000376620:A68S;ENSP00000351481:A27S;ENSP00000347495:A68S;ENSP00000339485:A27S;ENSP00000451460:A68S;ENSP00000451887:A27S;ENSP00000451490:A27S;ENSP00000451251:A27S;ENSP00000450500:A68S;ENSP00000451599:A27S;ENSP00000452519:A27S;ENSP00000451544:A27S;ENSP00000450427:A68S;ENSP00000451349:A68S;ENSP00000450934:A102S;ENSP00000451469:A68S;ENSP00000451402:A68S;ENSP00000452550:A68S;ENSP00000451906:A68S;ENSP00000451716:A68S;ENSP00000450563:A68S;ENSP00000451894:A102S;ENSP00000451027:A68S;ENSP00000450978:A68S	ENSP00000339485:A27S	A	-	1	0	WARS	99897909	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.126000	0.10563	-0.164000	0.10927	-0.140000	0.14226	GCA		TCGA-IB-7651-01A-11D-2154-08	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	1	0	1	90	386	0	117	1	1	807	1954	0	117	2		0	0	0	0	0	2	1	1	86	380	0	116	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR25	79446	broad.mit.edu	37	14	100847746	100847746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847746G>A	ENST00000335290.6	+	2	711	c.485G>A	c.(484-486)aGc>aAc	p.S162N	WDR25_ENST00000554998.1_Missense_Mutation_p.S162N|WDR25_ENST00000554175.1_Missense_Mutation_p.S162N|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Missense_Mutation_p.S162N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25			20		Melanoma(154;0.212)			AAAAATGGCAGCTCTTTTCAG	0.468000																								0							SO:0001583	missense			ENST00000335290.6	1	1	hg19	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089731	0.20390	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.66099	-0.19;-0.19;-0.19;1.78	5.53	0.307	0.15811	.	0.568068	0.17771	N	0.162570	T	0.44329	0.1288	L	0.35854	1.095	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.22068	-1.0227	10	0.35671	T	0.21	-8.6233	4.6728	0.12698	0.3262:0.0:0.5353:0.1385	.	162	Q64LD2	WDR25_HUMAN	N	162	ENSP00000450661:S162N;ENSP00000385540:S162N;ENSP00000334148:S162N;ENSP00000450727:S162N	ENSP00000334148:S162N	S	+	2	0	WDR25	99917499	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.463000	0.06696	-0.223000	0.09943	-0.345000	0.07892	AGC		TCGA-IB-7651-01A-11D-2154-08	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	1	0	1	126	597	0	116	1	9.267925e-01	9	14	0	116	2		0	0	0	0	0	2	1	1	125	587	0	116	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR25	79446	broad.mit.edu	37	14	100847801	100847801	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847801A>G	ENST00000335290.6	+	2	766	c.540A>G	c.(538-540)agA>agG	p.R180R	WDR25_ENST00000554998.1_Silent_p.R180R|WDR25_ENST00000554175.1_Silent_p.R180R|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Silent_p.R180R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25			20		Melanoma(154;0.212)			CTCCCAGAAGACTAAGACAGC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000335290.6	1	1	hg19	CCDS32157.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	1	0	1	169	619	0	110	1	9.979201e-01	14	22	0	110	2		0	0	0	0	0	2	1	1	167	607	0	109	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLK1	8788	broad.mit.edu	37	14	101200802	101200802	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101200802G>T	ENST00000341267.4	+	5	963	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)			29		Melanoma(154;0.155)			CGAGTTCACAGGTCTCACCTG	0.677000																								0							SO:0001583	missense			ENST00000341267.4	1	1	hg19	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953983	0.73902	.	.	ENSG00000185559	ENST00000341267	D	0.99121	-5.45	4.46	4.46	0.54185	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	9	.	.	.	.	16.1202	0.81346	0.0:0.0:1.0:0.0	.	241	P80370	DLK1_HUMAN	C	241	ENSP00000340292:G241C	.	G	+	1	0	DLK1	100270555	1.000000	0.71417	0.175000	0.22980	0.825000	0.46686	9.183000	0.94887	2.031000	0.59945	0.491000	0.48974	GGT		TCGA-IB-7651-01A-11D-2154-08	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1	1	0	1	101	387	0	81	0	8.917872e-01	0	17	0	81	2		0	0	0	0	0	2	1	1	100	383	0	79	2								-3.794413	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIO3	1735	broad.mit.edu	37	14	102028103	102028103	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028103C>T	ENST00000510508.4	+	1	416	c.270C>T	c.(268-270)ggC>ggT	p.G90G	DIO3_ENST00000359323.3_Silent_p.G64G|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III			22		all_neural(303;0.185)			ACAGTGAAGGCGAGGAGGTGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000510508.4	1	1	hg19	CCDS41992.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	0	0	1	72	435	0	80	1	3.201617e-01	2	6	0	80	2		0	0	0	0	0	2	1	1	70	428	0	78	2								-3.318969	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIO3	1735	broad.mit.edu	37	14	102028265	102028265	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028265C>T	ENST00000510508.4	+	1	578	c.432C>T	c.(430-432)gaC>gaT	p.D144D	DIO3_ENST00000359323.3_Silent_p.D118D|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III			22		all_neural(303;0.185)			TTCTGCCCGACGGCTTCCAGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000510508.4	1	1	hg19	CCDS41992.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	0	0	0	90	403	0	83	0	3.051722e-01	1	5	0	83	2		0	0	0	0	0	2	1	1	89	397	0	82	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R5C	5527	broad.mit.edu	37	14	102368104	102368104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102368104G>T	ENST00000334743.5	+	9	949	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000422945.2_Nonsense_Mutation_p.E332*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma			20					CAGTCCAAAAGAAGTAATGTT	0.443000																								0							SO:0001587	stop_gained			ENST00000334743.5	0	1	hg19	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	37	6.606893	0.97701	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	.	.	.	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.6198	13.7895	0.63131	0.074:0.0:0.926:0.0	.	.	.	.	X	332;356;330;301;199;301;301;301;97	.	ENSP00000329009:E356X	E	+	1	0	PPP2R5C	101437857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	1.221000	0.43506	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	1	0	1	99	407	0	83	1	1	12	236	0	83	2		0	0	0	0	0	2	1	1	97	402	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102446777	102446777	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102446777C>T	ENST00000360184.4	+	5	1015	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					TTGGAACGTGCGTTATACCGC	0.463000																								0							SO:0001583	missense			ENST00000360184.4	1	1	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828299	0.90955	.	.	ENSG00000197102	ENST00000360184	T	0.57436	0.4	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82104	-0.0622	10	0.41790	T	0.15	.	19.1779	0.93611	0.0:1.0:0.0:0.0	.	284	Q14204	DYHC1_HUMAN	V	284	ENSP00000348965:A284V	ENSP00000348965:A284V	A	+	2	0	DYNC1H1	101516530	1.000000	0.71417	0.889000	0.34880	0.305000	0.27757	7.383000	0.79741	2.601000	0.87937	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1	41	313	0	57	0	9.992513e-01	1	84	0	57	2		0	0	0	0	0	2	1	1	41	312	0	57	2								-3.318801	1	1	121412	2	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998529	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102453024	102453024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102453024C>T	ENST00000360184.4	+	8	2626	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					GAAGGCATTGCGTTGGTGTGG	0.502000																								0							SO:0001583	missense			ENST00000360184.4	1	1	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536019	0.45176	.	.	ENSG00000197102	ENST00000360184	T	0.56941	0.43	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.106999	0.64402	D	0.000004	T	0.45337	0.1337	L	0.40543	1.245	0.54753	D	0.999985	B	0.32051	0.354	B	0.24269	0.052	T	0.31971	-0.9924	10	0.31617	T	0.26	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	821	Q14204	DYHC1_HUMAN	V	821	ENSP00000348965:A821V	ENSP00000348965:A821V	A	+	2	0	DYNC1H1	101522777	1.000000	0.71417	0.276000	0.24689	0.607000	0.37147	7.425000	0.80255	2.767000	0.95098	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1	86	337	0	101	1	1	34	98	0	101	2		0	0	0	0	0	2	1	1	84	331	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102467348	102467348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102467348C>T	ENST00000360184.4	+	19	4296	c.4132C>T	c.(4132-4134)Cga>Tga	p.R1378*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					TGCCCGGTTGCGACAGTATGC	0.473000																								0							SO:0001587	stop_gained			ENST00000360184.4	0	1	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	44	10.575953	0.99430	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	ENSP00000348965:R1378X	R	+	1	2	DYNC1H1	101537101	1.000000	0.71417	0.970000	0.41538	0.379000	0.30106	6.135000	0.71696	2.767000	0.95098	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1	151	653	0	148	1	1	3	140	0	148	2		0	0	0	0	0	2	1	1	143	636	0	147	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					TACTTTGACCCTAAGCAAACT	0.418000																								0							SO:0001583	missense			ENST00000360184.4	1	1	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620173	0.66787	.	.	ENSG00000197102	ENST00000360184	T	0.30714	1.52	6.07	6.07	0.98685	.	0.050998	0.85682	D	0.000000	T	0.57417	0.2052	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	P	0.55545	0.778	T	0.60870	-0.7177	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1848	Q14204	DYHC1_HUMAN	H	1848	ENSP00000348965:P1848H	ENSP00000348965:P1848H	P	+	2	0	DYNC1H1	101542087	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.801000	0.69115	2.884000	0.98904	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	0	60	612	0	149	1	9.989285e-01	2	102	0	149	2		0	0	0	0	0	2	1	1	60	602	0	148	2								-2.578431	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.800000	1.000000	1.000000	0.971492	0.990000	1	9.100000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102482234	102482234	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102482234G>A	ENST00000360184.4	+	36	7448	c.7284G>A	c.(7282-7284)acG>acA	p.T2428T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					CGTACTTCACGTCCAACGGCC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000360184.4	1	1	hg19	CCDS9966.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1	50	188	0	44	1	1	40	102	0	44	2		0	0	0	0	0	2	1	1	47	185	0	44	2								-20.000000	1	1	121412	15	42	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102493837	102493837	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493837T>C	ENST00000360184.4	+	46	9168	c.9004T>C	c.(9004-9006)Tct>Cct	p.S3002P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					TGTGTTAGATTCTGGATTCCT	0.433000																								0							SO:0001583	missense			ENST00000360184.4	1	1	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653962	0.67472	.	.	ENSG00000197102	ENST00000360184	T	0.43294	0.95	5.7	5.7	0.88788	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.120080	0.64402	D	0.000015	T	0.50922	0.1644	L	0.39085	1.19	0.80722	D	1	D	0.53462	0.96	P	0.58077	0.832	T	0.49978	-0.8881	10	0.51188	T	0.08	.	15.961	0.79930	0.0:0.0:0.0:1.0	.	3002	Q14204	DYHC1_HUMAN	P	3002	ENSP00000348965:S3002P	ENSP00000348965:S3002P	S	+	1	0	DYNC1H1	101563590	1.000000	0.71417	0.899000	0.35326	0.951000	0.60555	7.755000	0.85180	2.168000	0.68352	0.491000	0.48974	TCT		TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1	104	487	0	104	1	1	73	145	0	104	2		0	0	0	0	0	2	1	1	102	478	0	104	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102493846	102493846	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493846C>A	ENST00000360184.4	+	46	9177	c.9013C>A	c.(9013-9015)Ctg>Atg	p.L3005M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					TTCTGGATTCCTGGAGCGAAT	0.433000																								0							SO:0001583	missense			ENST00000360184.4	1	1	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566117	0.65651	.	.	ENSG00000197102	ENST00000360184	T	0.58358	0.34	5.71	2.65	0.31530	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.073611	0.56097	D	0.000040	T	0.80048	0.4552	H	0.98295	4.195	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	T	0.81595	-0.0861	10	0.87932	D	0	.	8.3586	0.32346	0.0:0.5972:0.0:0.4028	.	3005	Q14204	DYHC1_HUMAN	M	3005	ENSP00000348965:L3005M	ENSP00000348965:L3005M	L	+	1	2	DYNC1H1	101563599	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.192000	0.32150	0.641000	0.30601	-0.192000	0.12808	CTG		TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1	104	514	0	110	1	1	69	152	0	110	2		0	0	0	0	0	2	1	1	102	504	0	110	2								-2.977356	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102498609	102498609	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102498609C>A	ENST00000360184.4	+	52	10048	c.9884C>A	c.(9883-9885)gCt>gAt	p.A3295D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					TGCCACTCAGCTGTGAAGTCG	0.567000																								0							SO:0001630	splice_region_variant			ENST00000360184.4	0	1	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	37	6.315928	0.97467	.	.	ENSG00000197102	ENST00000360184	T	0.80653	-1.4	5.3	5.3	0.74995	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91811	0.7409	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92794	0.6251	9	.	.	.	.	19.3256	0.94261	0.0:1.0:0.0:0.0	.	3295	Q14204	DYHC1_HUMAN	D	3295	ENSP00000348965:A3295D	.	A	+	2	0	DYNC1H1	101568362	1.000000	0.71417	0.860000	0.33809	0.886000	0.51366	7.729000	0.84864	2.642000	0.89623	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	0	0	0	25	1451	0	394	0	9.227023e-01	1	252	0	394	2		0	0	0	0	0	2	1	9.999997e-01	24	1417	0	389	2								-2.921294	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.190000	0.120000	0.280000	0.200000	0.205378	0.190000	0	1.500000e-01	2.400000e-01
DYNC1H1	1778	broad.mit.edu	37	14	102505518	102505518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102505518C>A	ENST00000360184.4	+	60	11551	c.11387C>A	c.(11386-11388)aCc>aAc	p.T3796N	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					GAGGTGGAGACCGTGTCCCAG	0.577000																								0							SO:0001583	missense			ENST00000360184.4	1	1	hg19	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945605	0.34377	.	.	ENSG00000197102	ENST00000360184	T	0.54479	0.57	5.97	5.08	0.68730	.	0.173614	0.56097	D	0.000029	T	0.44008	0.1273	L	0.37507	1.11	0.58432	D	0.999992	B	0.02656	0.0	B	0.06405	0.002	T	0.26643	-1.0097	10	0.19590	T	0.45	.	16.7954	0.85600	0.0:0.8609:0.1391:0.0	.	3796	Q14204	DYHC1_HUMAN	N	3796	ENSP00000348965:T3796N	ENSP00000348965:T3796N	T	+	2	0	DYNC1H1	101575271	1.000000	0.71417	0.924000	0.36721	0.976000	0.68499	4.843000	0.62838	1.504000	0.48704	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1	72	378	0	84	1	1	18	399	0	84	2		0	0	0	0	0	2	1	1	72	375	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102510214	102510214	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102510214T>C	ENST00000360184.4	+	70	12680	c.12516T>C	c.(12514-12516)tcT>tcC	p.S4172S	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					CTCACCAGTCTCCCAACGAGC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000360184.4	1	1	hg19	CCDS9966.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	1	41	265	0	74	1	1	136	320	0	74	2		0	0	0	0	0	2	1	1	41	262	0	73	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999883	0.990000	1	9.900000e-01	1
DYNC1H1	1778	broad.mit.edu	37	14	102514985	102514985	+	Silent	SNP	C	C	T	rs1127284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102514985C>T	ENST00000360184.4	+	74	13515	c.13351C>T	c.(13351-13353)Ctg>Ttg	p.L4451L	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1			166					CTTGCGCACGCTGATCAACGA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000360184.4	1	1	hg19	CCDS9966.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	1	0	0	33	158	0	37	1	1	184	374	0	37	2		0	0	0	0	0	2	1	1	33	157	0	37	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
HSP90AA1	3320	broad.mit.edu	37	14	102548126	102548126	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102548126T>C	ENST00000216281.8	-	11	2327	c.2122A>G	c.(2122-2124)Acc>Gcc	p.T708A	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T830A	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1			28				Nedocromil(DB00716)|Rifabutin(DB00615)	GCAGCACTGGTATCATCAGCA	0.413000																								0							SO:0001583	missense			ENST00000216281.8	1	1	hg19	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	8.088	0.773911	0.16051	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.08896	3.04;3.04	4.34	4.34	0.51931	.	0.837310	0.10573	U	0.658935	T	0.02012	0.0063	N	0.00560	-1.38	0.25982	N	0.982354	B;B	0.18166	0.009;0.026	B;B	0.20955	0.032;0.017	T	0.45381	-0.9265	10	0.13853	T	0.58	-10.756	1.5499	0.02572	0.1726:0.1003:0.1794:0.5477	.	830;708	P07900-2;P07900	.;HS90A_HUMAN	A	708;830	ENSP00000216281:T708A;ENSP00000335153:T830A	ENSP00000216281:T708A	T	-	1	0	HSP90AA1	101617879	0.708000	0.27876	0.974000	0.42286	0.969000	0.65631	0.679000	0.25291	1.739000	0.51704	0.377000	0.23210	ACC		TCGA-IB-7651-01A-11D-2154-08	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	1	0	1	119	472	0	117	1	1	1237	2154	0	117	2		0	0	0	0	0	2	1	1	115	465	0	118	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSP90AA1	3320	broad.mit.edu	37	14	102549964	102549964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102549964C>T	ENST00000216281.8	-	8	1610	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.A591T|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1			28				Nedocromil(DB00716)|Rifabutin(DB00615)	TCACCAGAGGCAGATGTGTAG	0.388000																								0							SO:0001583	missense			ENST00000216281.8	1	1	hg19	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	N	14.36	2.511341	0.44660	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09817	2.94;2.94;2.94	4.61	4.61	0.57282	Ribosomal protein S5 domain 2-type fold (1);	0.134283	0.49305	U	0.000156	T	0.12646	0.0307	L	0.41492	1.28	0.80722	D	1	B;P;B	0.40638	0.009;0.725;0.236	B;B;B	0.40009	0.008;0.316;0.173	T	0.05784	-1.0864	10	0.41790	T	0.15	-25.0233	17.4958	0.87717	0.0:1.0:0.0:0.0	.	290;591;469	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	T	469;591;290	ENSP00000216281:A469T;ENSP00000335153:A591T;ENSP00000396189:A290T	ENSP00000216281:A469T	A	-	1	0	HSP90AA1	101619717	1.000000	0.71417	0.886000	0.34754	0.123000	0.20343	3.722000	0.54948	2.299000	0.77371	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	1	0	1	70	453	0	94	1	1	994	1957	0	94	2		0	0	0	0	0	2	1	1	69	447	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ZNF839	55778	broad.mit.edu	37	14	102792469	102792469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102792469G>A	ENST00000558850.1	+	2	438	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	ZNF839_ENST00000442396.2_Missense_Mutation_p.A146T|ZNF839_ENST00000262236.5_Missense_Mutation_p.A30T|ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839			19					GCTCCATATCGCCAGCCCTCA	0.582000																								0							SO:0001583	missense			ENST00000558850.1	1	1	hg19	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	0.364	-0.937686	0.02340	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.42131	0.98;0.98	4.26	-6.21	0.02065	.	.	.	.	.	T	0.18551	0.0445	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.048;0.102;0.102	B;B;B	0.19148	0.011;0.013;0.024	T	0.20140	-1.0284	9	0.16896	T	0.51	.	3.8425	0.08920	0.5386:0.1098:0.2406:0.111	.	146;30;30	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	T	146;30	ENSP00000399863:A146T;ENSP00000262236:A30T	ENSP00000262236:A30T	A	+	1	0	ZNF839	101862222	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.652000	0.05366	-1.733000	0.01357	-1.060000	0.02296	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	1	0	1	36	155	0	34	1	9.966029e-01	11	30	0	34	2		0	0	0	0	0	2	1	1	36	150	0	34	2								-20.000000	1	1	120868	2	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CINP	51550	broad.mit.edu	37	14	102822114	102822114	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102822114C>T	ENST00000216756.6	-	3	337	c.297G>A	c.(295-297)ttG>ttA	p.L99L	CINP_ENST00000536961.2_Silent_p.L114L|CINP_ENST00000541568.2_Silent_p.L99L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein			4					CCAACCCATCCAAGGTGGCCT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000216756.6	1	1	hg19	CCDS9972.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	1	0	1	93	407	0	90	1	1	57	129	0	90	2		0	0	0	0	0	2	1	1	91	397	0	88	2								-3.079345	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECPR2	9895	broad.mit.edu	37	14	102900956	102900956	+	Missense_Mutation	SNP	C	C	T	rs118141823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102900956C>T	ENST00000359520.7	+	9	2028	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L	TECPR2_ENST00000558678.1_Missense_Mutation_p.P601L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2			50					GGAGATGAGCCGTGTCCTGCA	0.562000																								0							SO:0001583	missense			ENST00000359520.7	1	0	hg19	CCDS32162.1	28	0.01282051282051282	1	0.0020325203252032522	9	0.024861878453038673	0	0.0	18	0.023746701846965697	C	12.93	2.085592	0.36758	0.006128	0.022907	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.15718	2.4	5.24	-0.26	0.12967	.	3.162460	0.00875	N	0.002075	T	0.05823	0.0152	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	10	0.42905	T	0.14	.	1.2462	0.01973	0.332:0.298:0.2106:0.1594	.	601;601	A5PKY3;O15040	.;TCPR2_HUMAN	L	601	ENSP00000352510:P601L	ENSP00000352510:P601L	P	+	2	0	TECPR2	101970709	0.000000	0.05858	0.143000	0.22291	0.125000	0.20455	0.072000	0.14617	0.204000	0.20548	0.555000	0.69702	CCG		TCGA-IB-7651-01A-11D-2154-08	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	0	0	1	47	133	0	32	1	9.991464e-01	11	23	0	32	2		0	0	0	0	0	2	1	1	45	131	0	32	2								-1.467252	0	0	121364	2002	63	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TECPR2	9895	broad.mit.edu	37	14	102900983	102900983	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102900983G>T	ENST00000359520.7	+	9	2055	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I	TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2			50					GGACCAAATAGCACACAGTTA	0.567000																								0							SO:0001583	missense			ENST00000359520.7	1	1	hg19	CCDS32162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.59|11.59	1.684223|1.684223	0.29872|0.29872	.|.	.|.	ENSG00000196663|ENSG00000196663	ENST00000380088|ENST00000359520	.|T	.|0.15603	.|2.41	4.59|4.59	1.58|1.58	0.23477|0.23477	.|.	.|1.679610	.|0.02402	.|N	.|0.080727	.|T	.|0.11324	.|0.0276	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.0;0.002	.|T	.|0.23726	.|-1.0180	.|9	.|.	.|.	.|.	.|.	3.6399|3.6399	0.08163|0.08163	0.0829:0.1333:0.3749:0.4089|0.0829:0.1333:0.3749:0.4089	.|.	.|610;610	.|A5PKY3;O15040	.|.;TCPR2_HUMAN	.|I	-1|610	.|ENSP00000352510:S610I	.|.	.|S	+|+	.|2	.|0	TECPR2|TECPR2	101970736|101970736	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.341000|0.341000	0.28922|0.28922	-0.853000|-0.853000	0.04303|0.04303	0.140000|0.140000	0.18849|0.18849	0.555000|0.555000	0.69702|0.69702	.|AGC		TCGA-IB-7651-01A-11D-2154-08	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	1	0	0	9	172	0	40	0	5.830696e-01	0	37	0	40	2		0	0	0	0	0	2	1	9.938347e-01	9	167	0	40	2								-12.166180	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.590000	0.290000	1.000000	1.000000	0.618659	0.590000	0	4.200000e-01	8.000000e-01
TECPR2	9895	broad.mit.edu	37	14	102901147	102901147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102901147C>T	ENST00000359520.7	+	9	2219	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2			50					ACAGTGGCTGCCTGGGACCAG	0.597000																								0							SO:0001583	missense			ENST00000359520.7	1	1	hg19	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393809	0.42410	.	.	ENSG00000196663	ENST00000359520	T	0.13778	2.56	5.46	4.52	0.55395	.	0.643972	0.12979	N	0.423492	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	1	P;P	0.36048	0.534;0.534	B;B	0.34138	0.176;0.176	T	0.17379	-1.0371	9	.	.	.	.	10.1963	0.43056	0.1591:0.7047:0.1362:0.0	.	665;665	A5PKY3;O15040	.;TCPR2_HUMAN	S	665	ENSP00000352510:P665S	.	P	+	1	0	TECPR2	101970900	0.000000	0.05858	0.010000	0.14722	0.110000	0.19582	0.082000	0.14847	2.576000	0.86940	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	1	0	1	28	174	0	36	1	9.824951e-01	10	33	0	36	2		0	0	0	0	0	2	1	1	28	167	0	36	2								-2.141661	0	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999564	0.990000	1	9.900000e-01	1
ANKRD9	122416	broad.mit.edu	37	14	102974022	102974022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102974022C>T	ENST00000286918.4	-	4	801	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	ANKRD9_ENST00000559651.1_Missense_Mutation_p.A69T|ANKRD9_ENST00000560748.1_Missense_Mutation_p.A69T	NM_152326.2	NP_689539.1	Q96BM1	ANKR9_HUMAN	ankyrin repeat domain 9			2					GGCGAGTAGGCGGCGGCGCGC	0.716000																								0							SO:0001583	missense			ENST00000286918.4	1	0	hg19	CCDS9973.1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868827	0.17322	.	.	ENSG00000156381	ENST00000286918	D	0.87029	-2.2	3.7	1.26	0.21427	.	0.358652	0.28016	U	0.016922	T	0.57562	0.2062	N	0.02539	-0.55	0.29704	N	0.839951	B	0.12630	0.006	B	0.09377	0.004	T	0.52961	-0.8505	10	0.02654	T	1	-18.6369	0.8062	0.01084	0.1896:0.359:0.1902:0.2612	.	69	Q96BM1	ANKR9_HUMAN	T	69	ENSP00000286918:A69T	ENSP00000286918:A69T	A	-	1	0	ANKRD9	102043775	0.880000	0.30214	0.993000	0.49108	0.836000	0.47400	0.460000	0.21924	0.532000	0.28657	0.478000	0.44815	GCC		TCGA-IB-7651-01A-11D-2154-08	ANKRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415057.1	1	0	0	16	53	0	11	1	5.943876e-01	6	2	0	11	2		0	0	0	0	0	2	1	9.999608e-01	15	52	0	10	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999913	0.990000	1	9.900000e-01	1
RCOR1	23186	broad.mit.edu	37	14	103174849	103174849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174849G>A	ENST00000570597.1	+	6	699	c.699G>A	c.(697-699)tgG>tgA	p.W233*	RCOR1_ENST00000262241.6_Nonsense_Mutation_p.W236*			Q9UKL0	RCOR1_HUMAN	REST corepressor 1			12					ACTATTCTTGGAAGAAGACGA	0.383000																								0							SO:0001587	stop_gained			ENST00000570597.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	39	7.449281	0.98292	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9651	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000262241:W233X	W	+	3	0	RCOR1	102244602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.778000	0.95560	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1	250	1147	0	265	1	9.998958e-01	2	59	0	265	2		0	0	0	0	0	2	1	1	244	1104	0	263	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42BPB	9578	broad.mit.edu	37	14	103404690	103404690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103404690C>T	ENST00000361246.2	-	35	5174	c.4886G>A	c.(4885-4887)cGc>cAc	p.R1629H	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)			49		Melanoma(154;0.155)			TGGAGGCTGGCGAGCCAGGTT	0.662000																								0							SO:0001583	missense			ENST00000361246.2	1	1	hg19	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225273	0.39300	.	.	ENSG00000198752	ENST00000361246	T	0.65364	-0.15	4.89	4.89	0.63831	.	0.195819	0.45361	D	0.000368	T	0.65471	0.2694	L	0.59436	1.845	0.58432	D	0.999993	D	0.67145	0.996	P	0.48270	0.572	T	0.65129	-0.6243	10	0.29301	T	0.29	.	18.0522	0.89353	0.0:1.0:0.0:0.0	.	1629	Q9Y5S2	MRCKB_HUMAN	H	1629	ENSP00000355237:R1629H	ENSP00000355237:R1629H	R	-	2	0	CDC42BPB	102474443	1.000000	0.71417	0.970000	0.41538	0.148000	0.21650	6.221000	0.72243	2.251000	0.74343	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	0	0	0	21	668	0	101	1	9.999654e-01	35	493	0	101	2		0	0	0	0	0	2	1	9.999968e-01	18	654	0	100	2								-2.482020	0	0	121346	4	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.350000	0.220000	0.520000	0.350000	0.370265	0.350000	0	2.800000e-01	4.400000e-01
CDC42BPB	9578	broad.mit.edu	37	14	103444469	103444469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103444469G>A	ENST00000361246.2	-	9	1502	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)			49		Melanoma(154;0.155)			ATACCTTTCCGTTGTGAATGT	0.453000																								0							SO:0001583	missense			ENST00000361246.2	1	1	hg19	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069583	0.76301	.	.	ENSG00000198752	ENST00000361246	T	0.64260	-0.09	5.3	5.3	0.74995	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	L	0.51422	1.61	0.80722	D	1	D	0.63046	0.992	D	0.64776	0.929	T	0.75309	-0.3363	10	0.54805	T	0.06	.	18.9519	0.92644	0.0:0.0:1.0:0.0	.	405	Q9Y5S2	MRCKB_HUMAN	M	405	ENSP00000355237:T405M	ENSP00000355237:T405M	T	-	2	0	CDC42BPB	102514222	1.000000	0.71417	0.789000	0.31954	0.639000	0.38242	5.293000	0.65680	2.481000	0.83766	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	1	0	1	43	218	0	63	1	1	76	192	0	63	2		0	0	0	0	0	2	1	1	43	211	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TNFAIP2	7127	broad.mit.edu	37	14	103597432	103597432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103597432C>T	ENST00000560869.1	+	7	1882	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	TNFAIP2_ENST00000333007.1_Silent_p.L415L|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000451723.2_Silent_p.L84L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2			11		Melanoma(154;0.155)	Epithelial(46;0.191)		AGGCAAGCAGCTGACGAATTA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000560869.1	1	1	hg19	CCDS9979.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	1	0	1	86	397	0	83	1	1	106	209	0	83	2		0	0	0	0	0	2	1	1	84	389	0	80	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF5	1983	broad.mit.edu	37	14	103805668	103805668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103805668C>T	ENST00000216554.3	+	9	1580	c.904C>T	c.(904-906)Cga>Tga	p.R302*	EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5			18		Melanoma(154;0.155)	Epithelial(46;0.182)		CCATTTCCTACGAGTAAGCAA	0.393000																								0							SO:0001587	stop_gained			ENST00000216554.3	0	1	hg19	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	42	9.308945	0.99132	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	.	.	.	5.39	2.36	0.29203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4976	13.3204	0.60430	0.3965:0.6035:0.0:0.0	.	.	.	.	X	302	.	ENSP00000216554:R302X	R	+	1	2	EIF5	102875421	0.999000	0.42202	0.856000	0.33681	0.561000	0.35649	1.540000	0.36115	0.160000	0.19432	0.460000	0.39030	CGA		TCGA-IB-7651-01A-11D-2154-08	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	1	0	1	60	353	0	94	1	1	4	453	0	94	2		0	0	0	0	0	2	1	1	60	345	0	94	2								-3.319797	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MARK3	4140	broad.mit.edu	37	14	103958353	103958353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103958353C>A	ENST00000429436.2	+	15	2336	c.1826C>A	c.(1825-1827)aCt>aAt	p.T609N	MARK3_ENST00000416682.2_Missense_Mutation_p.T632N|MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000303622.9_Missense_Mutation_p.T609N|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3			30		Melanoma(154;0.155)	Epithelial(46;0.241)		AGTAAATTAACTTCAAAACTC	0.463000																								0							SO:0001583	missense			ENST00000429436.2	1	1	hg19	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.849609|4.849609	0.91277|0.91277	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	.|T;T;T;T;T;T;T;T	.|0.57107	.|0.42;0.42;0.95;0.42;0.95;0.95;0.42;0.42	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.042880	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;P;B;B;B;D;P;B	.|0.71674	.|0.961;0.63;0.105;0.015;0.273;0.998;0.861;0.039	.|P;B;B;B;B;D;P;B	.|0.78314	.|0.838;0.41;0.099;0.132;0.23;0.991;0.591;0.099	T|T	0.77638|0.77638	-0.2513|-0.2513	5|10	.|0.54805	.|T	.|0.06	.|.	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|616;196;632;593;609;530;609;609	.|P27448-7;A2SY06;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;.;MARK3_HUMAN;.;.;.	I|N	361|632;310;530;632;609;609;593;609;196	.|ENSP00000335347:T632N;ENSP00000402104:T530N;ENSP00000408092:T632N;ENSP00000411397:T609N;ENSP00000303698:T609N;ENSP00000216288:T593N;ENSP00000450772:T609N;ENSP00000451623:T196N	.|ENSP00000216288:T609N	L|T	+|+	1|2	0|0	MARK3|MARK3	103028106|103028106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.485000|7.485000	0.81204|0.81204	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTT|ACT		TCGA-IB-7651-01A-11D-2154-08	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	1	0	1	49	201	0	48	1	1	74	183	0	48	2		0	0	0	0	0	2	1	1	48	195	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARK3	4140	broad.mit.edu	37	14	103969356	103969356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969356C>T	ENST00000429436.2	+	18	2564	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	MARK3_ENST00000416682.2_Missense_Mutation_p.A684V|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000303622.9_Missense_Mutation_p.A661V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3			30		Melanoma(154;0.155)	Epithelial(46;0.241)		GTGTTGGACGCCAATAACTGC	0.552000																								0							SO:0001583	missense			ENST00000429436.2	1	1	hg19	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.994032|4.994032	0.93167|0.93167	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81983|0.81983	0.4938|0.4938	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;B;B;B;B;B;D;B;B|.	0.63046|.	0.943;0.347;0.272;0.338;0.434;0.062;0.992;0.149;0.272|.	P;B;B;B;B;B;P;B;B|.	0.58721|.	0.844;0.075;0.209;0.03;0.249;0.178;0.778;0.139;0.209|.	T|T	0.79955|0.79955	-0.1585|-0.1585	10|5	0.72032|.	D|.	0.01|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	692;263;684;394;645;685;591;676;661|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	V|S	708;377;591;684;685;661;645;676;263|437	ENSP00000335347:A708V;ENSP00000402104:A591V;ENSP00000408092:A684V;ENSP00000411397:A685V;ENSP00000303698:A661V;ENSP00000216288:A645V;ENSP00000450772:A676V;ENSP00000451623:A263V|.	ENSP00000216288:A676V|.	A|P	+|+	2|1	0|0	MARK3|MARK3	103039109|103039109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	5.875000|5.875000	0.69660|0.69660	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCA		TCGA-IB-7651-01A-11D-2154-08	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	1	0	1	55	233	0	53	1	1	95	200	0	53	2		0	0	0	0	0	2	1	1	55	231	0	52	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARK3	4140	broad.mit.edu	37	14	103969447	103969447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969447G>T	ENST00000429436.2	+	18	2655	c.2145G>T	c.(2143-2145)atG>atT	p.M715I	MARK3_ENST00000416682.2_Missense_Mutation_p.M714I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000303622.9_Missense_Mutation_p.M691I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3			30		Melanoma(154;0.155)	Epithelial(46;0.241)		AGTGGGAAATGGAAGTGTGCA	0.527000																								0							SO:0001583	missense			ENST00000429436.2	1	1	hg19	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.697104|2.697104	0.48202|0.48202	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.37915|.	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (4);|.	0.105274|.	0.85682|.	D|.	0.000000|.	T|T	0.47728|0.47728	0.1461|0.1461	N|N	0.05158|0.05158	-0.105|-0.105	0.80722|0.80722	D|D	1|1	B;D;B;P;B;B;P;B;B|.	0.56746|.	0.168;0.977;0.168;0.932;0.162;0.035;0.454;0.264;0.289|.	B;D;B;D;B;B;B;B;B|.	0.63488|.	0.192;0.912;0.101;0.915;0.075;0.134;0.266;0.175;0.192|.	T|T	0.41288|0.41288	-0.9517|-0.9517	10|5	0.22706|.	T|.	0.39|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	722;293;714;424;675;715;621;706;691|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	I|L	738;407;621;714;715;691;675;706;293|467	ENSP00000335347:M738I;ENSP00000402104:M621I;ENSP00000408092:M714I;ENSP00000411397:M715I;ENSP00000303698:M691I;ENSP00000216288:M675I;ENSP00000450772:M706I;ENSP00000451623:M293I|.	ENSP00000216288:M706I|.	M|W	+|+	3|2	0|0	MARK3|MARK3	103039200|103039200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.302000|0.302000	0.27658|0.27658	9.807000|9.807000	0.99171|0.99171	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATG|TGG		TCGA-IB-7651-01A-11D-2154-08	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	1	0	1	69	271	0	77	1	1	86	148	0	77	2		0	0	0	0	0	2	1	1	69	264	0	77	2								-3.514295	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CKB	1152	broad.mit.edu	37	14	103988793	103988793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103988793C>T	ENST00000348956.2	-	2	395	c.38G>A	c.(37-39)cGc>cAc	p.R13H	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain			3		Melanoma(154;0.155)	Epithelial(46;0.14)	Creatine(DB00148)	GGCCGGGAAGCGCAGCTTCAG	0.711000													Esophageal Squamous(186;2492 2823 49929 50127)											0							SO:0001583	missense			ENST00000348956.2	1	1	hg19	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524213	0.44866	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878	T;T	0.63580	-0.05;-0.05	4.17	3.28	0.37604	ATP:guanido phosphotransferase, N-terminal (3);	0.201519	0.39687	N	0.001298	T	0.50820	0.1638	L	0.50333	1.59	0.32913	D	0.514826	B	0.02656	0.0	B	0.01281	0.0	T	0.57579	-0.7787	10	0.72032	D	0.01	0.7127	5.0339	0.14424	0.0:0.6137:0.0:0.3863	.	13	P12277	KCRB_HUMAN	H	13	ENSP00000299198:R13H;ENSP00000451904:R13H	ENSP00000299198:R13H	R	-	2	0	CKB	103058546	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.145000	0.42207	1.001000	0.39076	0.297000	0.19635	CGC		TCGA-IB-7651-01A-11D-2154-08	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1	1	0	0	33	134	0	32	1	9.433124e-01	4	18	0	32	2		0	0	0	0	0	2	1	1	31	132	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TRMT61A	115708	broad.mit.edu	37	14	103996563	103996563	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103996563G>A	ENST00000389749.4	+	2	355	c.248G>A	c.(247-249)cGc>cAc	p.R83H	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)			1					CTGCCGCACCGCACGCAGATC	0.642000																								0							SO:0001583	missense			ENST00000389749.4	1	1	hg19	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406675	0.96051	.	.	ENSG00000166166	ENST00000389749;ENST00000299201	T	0.61742	0.08	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87926	0.2707	10	0.52906	T	0.07	-11.4544	16.8232	0.85924	0.0:0.0:1.0:0.0	.	83	Q96FX7	TRM61_HUMAN	H	83	ENSP00000374399:R83H	ENSP00000299201:R83H	R	+	2	0	TRMT61A	103066316	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.448000	0.97600	2.186000	0.69663	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	1	0	1	139	667	0	145	1	9.999956e-01	29	55	0	145	2		0	0	0	0	0	2	1	1	138	649	1	140	19								-3.153878	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAG5	9529	broad.mit.edu	37	14	104026472	104026472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104026472T>C	ENST00000445922.2	-	2	1276	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5			24		Melanoma(154;0.155)	Epithelial(46;0.144)		TCAATATATGTGATCAGAGTT	0.478000													NSCLC(171;1832 2055 18950 31566 41632)											0							SO:0001583	missense			ENST00000445922.2	1	1	hg19	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865222	0.51482	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.87491	-2.26;-2.26;-2.26	5.76	5.76	0.90799	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91468	0.5194	10	0.87932	D	0	-26.7047	16.0833	0.81020	0.0:0.0:0.0:1.0	.	344;385	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	A	344;344;385	ENSP00000299204:T344A;ENSP00000391713:T344A;ENSP00000338814:T385A	ENSP00000299204:T344A	T	-	1	0	BAG5	103096225	1.000000	0.71417	0.708000	0.30435	0.026000	0.11368	7.210000	0.77924	2.202000	0.70862	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1	1	0	1	135	488	0	122	1	1	29	70	0	122	2		0	0	0	0	0	2	1	1	133	483	0	122	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLC1	3831	broad.mit.edu	37	14	104143826	104143826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104143826C>T	ENST00000348520.6	+	12	1773	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M	KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000389744.4_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1		KLC1/ALK(2)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)			GCTGCAGAAACGTTAGAAGAA	0.418000																								0							SO:0001583	missense			ENST00000348520.6	1	1	hg19	CCDS41996.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.694657|4.694657	0.88830|0.88830	.|.	.|.	ENSG00000126214|ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000553325;ENST00000553436;ENST00000555856|ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	.|T;D;T;T;T;T;T;T;T;D;T;T;D;T	.|0.85258	.|-1.37;-1.85;-1.36;-1.36;-1.36;-1.37;-1.37;-1.36;-1.37;-1.96;-1.37;-1.36;-1.95;-0.62	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.090866	.|0.85682	.|D	.|0.000000	D|D	0.92580|0.92580	0.7643|0.7643	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.996;0.999;1.0;0.997	D|D	0.91455|0.91455	0.5184|0.5184	5|10	.|0.42905	.|T	.|0.14	-10.5759|-10.5759	19.7987|19.7987	0.96497|0.96497	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|485;485;657;485;483	.|F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.|.;.;.;KLC1_HUMAN;.	C|M	65;61;59|485;485;485;485;485;485;485;485;485;485;485;485;485;483;657	.|ENSP00000341154:T485M;ENSP00000369377:T485M;ENSP00000374394:T485M;ENSP00000450617:T485M;ENSP00000452487:T485M;ENSP00000334618:T485M;ENSP00000452481:T485M;ENSP00000334523:T485M;ENSP00000246489:T485M;ENSP00000450648:T485M;ENSP00000451242:T485M;ENSP00000414982:T485M;ENSP00000412693:T483M;ENSP00000439065:T657M	.|ENSP00000246489:T485M	R|T	+|+	1|2	0|0	KLC1|KLC1;RP11-73M18.2	103213579|103213579	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.816000|0.816000	0.46133|0.46133	7.776000|7.776000	0.85560|0.85560	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CGT|ACG		TCGA-IB-7651-01A-11D-2154-08	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	1	0	1	81	411	0	95	1	1	123	403	0	95	2		0	0	0	0	0	2	1	1	78	403	0	94	2								-20.000000	1	1	121412	1	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R13B	23368	broad.mit.edu	37	14	104206599	104206599	+	Silent	SNP	G	G	A	rs149001440	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104206599G>A	ENST00000202556.9	-	12	2436	c.2154C>T	c.(2152-2154)ggC>ggT	p.G718G	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.G137G	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B			33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)			TGTTGGGCCCGCCGGGGCCCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000202556.9	1	0	hg19	CCDS41997.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	0	0	1	121	514	1	78	1	9.407687e-01	3	27	1	78	3		0	0	0	0	0	2	1	1	117	502	1	75	25								-2.626670	1	1	120846	353	57	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TDRD9	122402	broad.mit.edu	37	14	104473017	104473017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104473017G>A	ENST00000409874.4	+	17	1962	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9			33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)			TTTTTGCAATGCCTTTCCGGC	0.328000																								0							SO:0001583	missense			ENST00000409874.4	0	1	hg19	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699403|1.699403	0.30142|0.30142	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.02446	.|4.29;4.29	5.48|5.48	4.59|4.59	0.56863|0.56863	.|Helicase-associated domain (2);	.|0.184337	.|0.47093	.|N	.|0.000243	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.14661|0.14661	0.345|0.345	0.46798|0.46798	D|D	0.9992|0.9992	.|B;B	.|0.23058	.|0.079;0.002	.|B;B	.|0.20577	.|0.021;0.03	T|T	0.56798|0.56798	-0.7919|-0.7919	5|10	.|0.34782	.|T	.|0.22	.|.	7.8697|7.8697	0.29558|0.29558	0.1432:0.0:0.7243:0.1325|0.1432:0.0:0.7243:0.1325	.|.	.|638;638	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	T|I	365|638	.|ENSP00000387303:M638I;ENSP00000343545:M638I	.|ENSP00000343545:M638I	A|M	+|+	1|3	0|0	TDRD9|TDRD9	103542770|103542770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	2.605000|2.605000	0.46283|0.46283	1.310000|1.310000	0.45006|0.45006	0.563000|0.563000	0.77884|0.77884	GCC|ATG		TCGA-IB-7651-01A-11D-2154-08	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	1	0	1	23	140	0	19	0	2.190581e-02	0	2	0	19	2		0	0	0	0	0	2	1	9.999996e-01	23	138	0	19	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999192	0.990000	1	9.900000e-01	1
KIF26A	26153	broad.mit.edu	37	14	104639499	104639499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104639499G>A	ENST00000423312.2	+	8	1606	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	KIF26A_ENST00000315264.7_Missense_Mutation_p.E397K	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A			21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)		CCTGCTGGCCGAGGTGGCCCC	0.721000																								0							SO:0001583	missense			ENST00000423312.2	0	1	hg19	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442707	0.83993	2.47E-4	1.21E-4	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.43294	0.95;0.95	5.18	3.31	0.37934	Kinesin, motor domain (4);	.	.	.	.	T	0.31544	0.0800	N	0.20845	0.615	0.49582	D	0.999808	D	0.57571	0.98	P	0.47044	0.535	T	0.02639	-1.1130	9	0.39692	T	0.17	.	9.8426	0.41008	0.0733:0.0:0.7873:0.1395	.	536	Q9ULI4	KI26A_HUMAN	K	536;397	ENSP00000388241:E536K;ENSP00000325452:E397K	ENSP00000325452:E397K	E	+	1	0	KIF26A	103709252	1.000000	0.71417	0.884000	0.34674	0.801000	0.45260	9.524000	0.98036	0.536000	0.28733	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	1	0	1	16	104	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.999479e-01	16	102	0	22	2								-20.000000	1	1	119868	13	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.920000	1.000000	1.000000	0.995486	0.990000	1	9.900000e-01	1
KIF26A	26153	broad.mit.edu	37	14	104642801	104642801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104642801G>A	ENST00000423312.2	+	12	3676	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T	KIF26A_ENST00000315264.7_Missense_Mutation_p.A1087T	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A			21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)		TGTGGGCTGTGCTCGCCTGGG	0.697000																								0							SO:0001583	missense			ENST00000423312.2	1	1	hg19	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204088	0.01581	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.77877	-1.13;-1.12	3.23	-6.45	0.01914	.	.	.	.	.	T	0.59032	0.2164	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33240	-0.9876	9	0.21014	T	0.42	.	4.4235	0.11492	0.2471:0.1681:0.5003:0.0846	.	1226	Q9ULI4	KI26A_HUMAN	T	1226;1087	ENSP00000388241:A1226T;ENSP00000325452:A1087T	ENSP00000325452:A1087T	A	+	1	0	KIF26A	103712554	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.406000	0.21032	-2.983000	0.00282	-1.021000	0.02439	GCT		TCGA-IB-7651-01A-11D-2154-08	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	1	0	1	43	168	0	44	0	4.343820e-02	0	2	0	44	2		0	0	0	0	0	2	1	1	42	163	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM179	388021	broad.mit.edu	37	14	105063451	105063451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105063451C>T	ENST00000556573.1	-	2	560	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	TMEM179_ENST00000341595.3_Missense_Mutation_p.A107T			Q6ZVK1	T179A_HUMAN	transmembrane protein 179			4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)		TTCAGGAAGGCGGAGAAGAAG	0.632000																								0							SO:0001583	missense			ENST00000556573.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.74	2.326812	0.41197	.	.	ENSG00000189203;ENSG00000258986;ENSG00000258986	ENST00000415614;ENST00000556573;ENST00000341595	T;T;T	0.17054	2.3;2.3;2.3	3.45	2.46	0.29980	.	0.444482	0.23160	N	0.051254	T	0.15825	0.0381	L	0.52126	1.63	0.42111	D	0.991384	P	0.52170	0.951	B	0.40134	0.32	T	0.13361	-1.0512	10	0.51188	T	0.08	.	12.3378	0.55077	0.1687:0.8313:0.0:0.0	.	107	Q6ZVK1-2	.	T	107	ENSP00000397763:A107T;ENSP00000450958:A107T;ENSP00000340477:A107T	ENSP00000340477:A107T	A	-	1	0	RP11-614O9.3;TMEM179	104134496	0.996000	0.38824	0.841000	0.33234	0.539000	0.34962	3.407000	0.52644	1.640000	0.50565	0.442000	0.29010	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	1	0	1	13	34	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.997495e-01	13	33	0	15	2								-20.000000	1	1	120722	1	24	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999861	0.990000	1	9.900000e-01	1
INF2	64423	broad.mit.edu	37	14	105174179	105174179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174179C>T	ENST00000392634.4	+	8	1687	c.1575C>T	c.(1573-1575)acC>acT	p.T525T	INF2_ENST00000330634.7_Silent_p.T525T	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing			8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)		TGCCCTGCACCTGCAGCCCCC	0.716000																								0							SO:0001819	synonymous_variant			ENST00000392634.4	0	1	hg19	CCDS9989.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	0	0	0	9	102	0	15	1	9.680384e-01	10	61	0	15	2		0	0	0	0	0	2	1	9.943981e-01	8	101	0	15	2								-18.251150	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.950000	0.480000	1.000000	1.000000	0.877427	0.950000	1	6.900000e-01	1
INF2	64423	broad.mit.edu	37	14	105174224	105174224	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174224C>T	ENST00000392634.4	+	8	1732	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	INF2_ENST00000330634.7_Silent_p.A540A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing			8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)		TCATCGTGGCCCAGGTGGACC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000392634.4	0	1	hg19	CCDS9989.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	0	0	0	36	173	0	46	1	9.999998e-01	46	75	0	46	2		0	0	0	0	0	2	1	1	28	152	0	39	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
INF2	64423	broad.mit.edu	37	14	105177986	105177986	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105177986C>T	ENST00000392634.4	+	16	2551	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	INF2_ENST00000330634.7_Silent_p.P813P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing			8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)		AGAGCCACCCCGACCTCCTGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000392634.4	1	1	hg19	CCDS9989.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1	32	193	0	34	1	1	88	196	0	34	2		0	0	0	0	0	2	1	1	32	190	0	33	2								-2.973015	1	1	120760	2	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999842	0.990000	1	9.900000e-01	1
INF2	64423	broad.mit.edu	37	14	105179212	105179212	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179212C>T	ENST00000392634.4	+	18	2770	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	INF2_ENST00000330634.7_Silent_p.I886I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing			8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)		TTGAGGCCATCGAGCAGAAGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000392634.4	1	1	hg19	CCDS9989.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1	36	199	0	35	1	1	126	231	0	35	2		0	0	0	0	0	2	1	1	36	198	0	34	2								-18.826490	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
INF2	64423	broad.mit.edu	37	14	105179914	105179914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179914C>T	ENST00000392634.4	+	20	3123	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing			8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)		AAGGCAGCCTCCATGGATCCC	0.652000																								0							SO:0001583	missense			ENST00000392634.4	1	1	hg19	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823223	0.32237	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.80738	-1.41;-1.41	4.04	2.16	0.27623	.	7.488640	0.01565	U	0.020283	T	0.66056	0.2751	N	0.19112	0.55	0.09310	N	0.999997	P;P	0.43094	0.799;0.697	B;B	0.31946	0.138;0.094	T	0.60016	-0.7345	10	0.49607	T	0.09	.	6.2899	0.21054	0.0:0.6793:0.1498:0.1709	.	1004;1004	Q27J81-2;Q27J81	.;INF2_HUMAN	F	1004	ENSP00000376406:S1004F;ENSP00000376410:S1004F	ENSP00000252527:S472F	S	+	2	0	INF2	104250959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.929000	0.28844	0.269000	0.21961	-0.379000	0.06801	TCC		TCGA-IB-7651-01A-11D-2154-08	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1	25	121	0	33	1	1	121	237	0	33	2		0	0	0	0	0	2	1	9.999999e-01	25	121	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
INF2	64423	broad.mit.edu	37	14	105180722	105180722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105180722C>T	ENST00000392634.4	+	21	3335	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing			8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)		CCTGGAGAGGCGTTCTTCCTG	0.677000																								0							SO:0001583	missense			ENST00000392634.4	0	1	hg19	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726340	0.48833	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.82255	-1.58;-1.59	4.06	3.15	0.36227	.	2.226690	0.02138	N	0.056942	D	0.86264	0.5891	L	0.34521	1.04	0.47065	D	0.9993	D;D	0.89917	1.0;0.999	P;P	0.60886	0.88;0.761	T	0.73783	-0.3874	10	0.72032	D	0.01	.	9.5272	0.39171	0.2117:0.7883:0.0:0.0	.	1075;1075	Q27J81-2;Q27J81	.;INF2_HUMAN	C	1075	ENSP00000376406:R1075C;ENSP00000376410:R1075C	ENSP00000252527:R543C	R	+	1	0	INF2	104251767	1.000000	0.71417	0.077000	0.20336	0.958000	0.62258	2.098000	0.41757	0.979000	0.38497	0.491000	0.48974	CGT		TCGA-IB-7651-01A-11D-2154-08	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1	11	55	0	12	1	1	99	194	0	12	2		0	0	0	0	0	2	1	9.985911e-01	11	53	0	12	2								-19.835740	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.996555	0.990000	1	9.900000e-01	1
INF2	64423	broad.mit.edu	37	14	105181089	105181089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105181089C>T	ENST00000392634.4	+	21	3702	c.3590C>T	c.(3589-3591)gCg>gTg	p.A1197V	INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing			8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)		TCCGAGGATGCGGTGACCGAC	0.687000																								0							SO:0001583	missense			ENST00000392634.4	1	1	hg19	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631763	0.29068	0.0	1.21E-4	ENSG00000203485	ENST00000330634;ENST00000392634	T;D	0.81499	-1.49;-1.5	4.44	3.55	0.40652	.	0.371075	0.19509	N	0.112548	T	0.63558	0.2521	N	0.17082	0.46	0.25501	N	0.987559	B;B	0.31318	0.319;0.213	B;B	0.17433	0.018;0.008	T	0.56426	-0.7981	10	0.52906	T	0.07	.	10.3378	0.43860	0.0:0.9063:0.0:0.0937	.	1197;1197	Q27J81-2;Q27J81	.;INF2_HUMAN	V	1197	ENSP00000376406:A1197V;ENSP00000376410:A1197V	ENSP00000252527:A665V	A	+	2	0	INF2	104252134	0.000000	0.05858	0.019000	0.16419	0.218000	0.24690	0.976000	0.29462	0.871000	0.35750	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	1	0	1	23	103	0	16	1	1	76	115	0	16	2		0	0	0	0	0	2	1	9.999996e-01	22	101	0	16	2								-20.000000	1	1	120112	4	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999951	0.990000	1	9.900000e-01	1
ADSSL1	122622	broad.mit.edu	37	14	105208312	105208312	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105208312C>T	ENST00000330877.2	+	9	1006	c.921C>T	c.(919-921)atC>atT	p.I307I	ADSSL1_ENST00000332972.5_Silent_p.I350I	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1			11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)		GTGTGGGCATCGGGGCCTTCC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000330877.2	1	1	hg19	CCDS9990.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1	1	0	1	148	683	0	130	0	7.410305e-01	1	13	0	130	2		0	0	0	0	0	2	1	1	144	675	0	129	2								-20.000000	1	1	121408	1	32	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIVA1	10572	broad.mit.edu	37	14	105222077	105222077	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105222077G>T	ENST00000329967.6	+	2	331	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor			3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)		TGGCCCTACAGGGGCCCCGAG	0.667000																								0							SO:0001583	missense			ENST00000329967.6	0	1	hg19	CCDS9992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.981899|1.981899	0.34942|0.34942	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000329967;ENST00000553810|ENST00000556195	.|.	.|.	.|.	5.1|5.1	4.21|4.21	0.49690|0.49690	.|.	0.646995|.	0.14521|.	N|.	0.314427|.	T|T	0.52451|0.52451	0.1735|0.1735	L|L	0.36672|0.36672	1.1|1.1	0.43745|0.43745	D|D	0.996247|0.996247	D;D;D|.	0.69078|.	0.975;0.992;0.997|.	D;D;D|.	0.64321|.	0.911;0.911;0.924|.	T|T	0.45804|0.45804	-0.9236|-0.9236	9|5	0.72032|.	D|.	0.01|.	-9.7975|-9.7975	9.738|9.738	0.40399|0.40399	0.096:0.0:0.904:0.0|0.096:0.0:0.904:0.0	.|.	77;77;77|.	B4DTY2;O15304;G3V3U1|.	.;SIVA_HUMAN;.|.	W|H	77|94	.|.	ENSP00000329213:G77W|.	G|Q	+|+	1|3	0|2	SIVA1|SIVA1	104293122|104293122	0.015000|0.015000	0.18098|0.18098	0.014000|0.014000	0.15608|0.15608	0.043000|0.043000	0.13939|0.13939	2.116000|2.116000	0.41930|0.41930	1.139000|1.139000	0.42245|0.42245	0.655000|0.655000	0.94253|0.94253	GGG|CAG		TCGA-IB-7651-01A-11D-2154-08	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	0	0	0	10	354	1	58	1	5.531939e-02	39	468	1	58	26		0	0	0	0	0	2	0	4.228860e-02	10	350	1	57	20								-9.985297	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.330000	0.160000	0.560000	0.310000	0.347250	0.330000	0	2.400000e-01	4.400000e-01
AKT1	207	broad.mit.edu	37	14	105242041	105242041	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105242041T>C	ENST00000402615.2	-	5	1863	c.383A>G	c.(382-384)aAc>aGc	p.N128S	AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S|AKT1_ENST00000554581.1_Missense_Mutation_p.N128S|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.N66S|AKT1_ENST00000554585.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1			176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCCTGAGTTGTCACTGGG	0.637000		1	Mis		breast, colorectal, ovarian, NSCLC										Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0							SO:0001583	missense			ENST00000402615.2	1	1	hg19	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	T	8.764	0.924363	0.18056	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000007	T	0.18635	0.0447	N	0.04508	-0.205	0.41335	D	0.987261	B	0.02656	0.0	B	0.04013	0.001	T	0.09684	-1.0663	10	0.06494	T	0.89	.	12.8618	0.57918	0.0:0.0:0.0:1.0	.	128	P31749	AKT1_HUMAN	S	128;128;128;128;128;66;128;66	ENSP00000451828:N128S;ENSP00000384293:N128S;ENSP00000270202:N128S;ENSP00000385326:N128S;ENSP00000450688:N128S;ENSP00000443897:N66S;ENSP00000451166:N128S;ENSP00000451290:N66S	ENSP00000270202:N128S	N	-	2	0	AKT1	104313086	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.828000	0.27435	1.626000	0.50381	0.368000	0.22195	AAC		TCGA-IB-7651-01A-11D-2154-08	AKT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410422.1	1	0	0	15	407	0	64	1	9.999605e-01	31	456	0	64	2		0	0	0	0	0	2	1	9.998628e-01	15	401	0	64	2								-14.847840	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.420000	0.240000	0.650000	0.410000	0.436831	0.420000	0	3.200000e-01	5.400000e-01
AKT1	207	broad.mit.edu	37	14	105258975	105258975	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105258975G>A	ENST00000402615.2	-	2	1486	c.6C>T	c.(4-6)agC>agT	p.S2S	AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S|AKT1_ENST00000554581.1_Silent_p.S2S|AKT1_ENST00000349310.3_Silent_p.S2S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1			176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGCCACGTCGCTCATGGTGC	0.672000		1	Mis		breast, colorectal, ovarian, NSCLC										Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0							SO:0001819	synonymous_variant			ENST00000402615.2	1	1	hg19	CCDS9994.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410422.1	0	0	0	50	585	0	120	1	9.999894e-01	18	175	0	120	2		0	0	0	0	0	2	1	1	50	580	0	117	2								-3.318794	1	1	121330	2	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.910000	0.690000	1.000000	1.000000	0.907023	0.910000	1	8.000000e-01	1
AHNAK2	113146	broad.mit.edu	37	14	105407193	105407193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105407193G>A	ENST00000333244.5	-	7	14714	c.14595C>T	c.(14593-14595)ttC>ttT	p.F4865F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		TTGGTTTATAGAATTTAGGAA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000333244.5	1	1	hg19	CCDS45177.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1	26	114	0	32	1	1	40	220	0	32	2		0	0	0	0	0	2	1	1	27	113	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
AHNAK2	113146	broad.mit.edu	37	14	105408319	105408319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105408319G>A	ENST00000333244.5	-	7	13588	c.13469C>T	c.(13468-13470)gCg>gTg	p.A4490V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		CATCTTTGGCGCAGACACATC	0.572000																								0							SO:0001583	missense			ENST00000333244.5	1	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	A	4.162	0.028622	0.08054	.	.	ENSG00000185567	ENST00000333244	T	0.00958	5.5	3.6	1.02	0.19986	.	0.505334	0.13604	N	0.375608	T	0.00440	0.0014	N	0.04275	-0.24	0.09310	N	1	P	0.40931	0.733	B	0.31390	0.129	T	0.49826	-0.8898	10	0.35671	T	0.21	-2.8578	3.0753	0.06245	0.3547:0.0:0.381:0.2643	.	4490	Q8IVF2	AHNK2_HUMAN	V	4490	ENSP00000353114:A4490V	ENSP00000353114:A4490V	A	-	2	0	AHNAK2	104479364	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.630000	0.05502	-0.141000	0.11374	-1.028000	0.02416	GCG		TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1	203	849	0	237	1	1	22	83	0	237	2		0	0	0	0	0	2	1	1	197	839	0	236	2								-20.000000	1	1	120970	4	43	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK2	113146	broad.mit.edu	37	14	105411530	105411530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105411530G>T	ENST00000333244.5	-	7	10377	c.10258C>A	c.(10258-10260)Cta>Ata	p.L3420I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		GGGACTTTTAGGTCCAGCTTG	0.612000																								0							SO:0001583	missense			ENST00000333244.5	1	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	3.767	-0.048412	0.07407	.	.	ENSG00000185567	ENST00000333244	T	0.01902	4.57	4.31	-5.55	0.02536	.	.	.	.	.	T	0.01695	0.0054	L	0.28014	0.82	0.09310	N	1	B	0.33940	0.433	B	0.26310	0.068	T	0.34153	-0.9840	9	0.19147	T	0.46	.	15.6144	0.76753	0.0:0.7229:0.1753:0.1018	.	3420	Q8IVF2	AHNK2_HUMAN	I	3420	ENSP00000353114:L3420I	ENSP00000353114:L3420I	L	-	1	2	AHNAK2	104482575	.	.	0.040000	0.18447	0.017000	0.09413	.	.	-1.090000	0.03069	-0.479000	0.04858	CTA		TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1	301	1312	1	344	1	9.999930e-01	63	22	1	344	3		0	0	0	0	0	2	1	1	298	1300	0	340	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK2	113146	broad.mit.edu	37	14	105412761	105412761	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412761C>T	ENST00000333244.5	-	7	9146	c.9027G>A	c.(9025-9027)gaG>gaA	p.E3009E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		TCACTTCGGCCTCCACCTTCG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000333244.5	1	1	hg19	CCDS45177.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1	57	1584	0	360	1	3.635975e-01	4	32	0	360	2		0	0	0	0	0	2	1	1	54	1558	0	362	2								-3.569456	1	1	120930	23	43	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.400000	0.300000	0.510000	0.410000	0.412284	0.400000	0	3.500000e-01	4.600000e-01
AHNAK2	113146	broad.mit.edu	37	14	105412916	105412916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412916C>T	ENST00000333244.5	-	7	8991	c.8872G>A	c.(8872-8874)Gca>Aca	p.A2958T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		TCCAGCCGTGCACCATCCAGC	0.627000																								0							SO:0001583	missense			ENST00000333244.5	1	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	7.167	0.586811	0.13749	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	1.88	-2.39	0.06602	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43861	-0.9365	9	0.28530	T	0.3	.	5.3304	0.15930	0.0:0.4614:0.0:0.5386	.	2958	Q8IVF2	AHNK2_HUMAN	T	2958	ENSP00000353114:A2958T	ENSP00000353114:A2958T	A	-	1	0	AHNAK2	104483961	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.434000	0.06939	-0.642000	0.05480	-0.683000	0.03753	GCA		TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1	368	1421	0	378	1	1	14	84	0	378	2		0	0	0	0	0	2	1	1	362	1395	0	371	2								-20.000000	1	1	120948	1	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK2	113146	broad.mit.edu	37	14	105414796	105414796	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105414796G>T	ENST00000333244.5	-	7	7111	c.6992C>A	c.(6991-6993)tCt>tAt	p.S2331Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		GCCAAGGGCAGACACCCCAAA	0.602000																								0							SO:0001583	missense			ENST00000333244.5	1	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	16.73	3.203847	0.58234	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	3.64	3.64	0.41730	.	.	.	.	.	T	0.07098	0.0180	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04946	-1.0916	9	0.66056	D	0.02	.	10.8683	0.46869	0.0:0.0:1.0:0.0	.	2331	Q8IVF2	AHNK2_HUMAN	Y	2331	ENSP00000353114:S2331Y	ENSP00000353114:S2331Y	S	-	2	0	AHNAK2	104485841	0.860000	0.29831	0.006000	0.13384	0.006000	0.05464	4.252000	0.58785	1.559000	0.49555	0.306000	0.20318	TCT		TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1	327	1403	0	408	1	9.999946e-01	56	17	0	408	2		0	0	0	0	0	2	1	1	309	1383	0	406	2								-3.379386	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK2	113146	broad.mit.edu	37	14	105416177	105416177	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105416177G>T	ENST00000333244.5	-	7	5730	c.5611C>A	c.(5611-5613)Ctc>Atc	p.L1871I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		GGAATGCAGAGGTCCGTGGTC	0.662000																								0							SO:0001583	missense			ENST00000333244.5	1	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	5.472	0.272207	0.10349	0.0	3.66E-4	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.92	-2.04	0.07343	.	.	.	.	.	T	0.01189	0.0039	M	0.64997	1.995	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.32851	-0.9891	9	0.32370	T	0.25	-7.9399	13.4204	0.60994	0.0:0.4768:0.4255:0.0977	.	1871	Q8IVF2	AHNK2_HUMAN	I	1871	ENSP00000353114:L1871I	ENSP00000353114:L1871I	L	-	1	0	AHNAK2	104487222	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.726000	0.04895	-0.255000	0.11280	CTC		TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1	253	1122	0	293	1	9.999696e-01	54	12	0	293	2		0	0	0	0	0	2	1	1	249	1104	0	293	2								-4.117163	1	1	120052	55	54	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK2	113146	broad.mit.edu	37	14	105418648	105418648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105418648C>A	ENST00000333244.5	-	7	3259	c.3140G>T	c.(3139-3141)aGc>aTc	p.S1047I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		AGGCTGAATGCTGAGGTCAGT	0.617000																								0							SO:0001583	missense			ENST00000333244.5	1	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.209663	0.39003	.	.	ENSG00000185567	ENST00000333244	T	0.00922	5.54	3.68	-2.37	0.06643	.	.	.	.	.	T	0.02888	0.0086	M	0.84433	2.695	0.09310	N	1	D	0.57899	0.981	P	0.54590	0.756	T	0.14282	-1.0478	9	0.42905	T	0.14	.	5.5041	0.16844	0.0:0.2944:0.4327:0.273	.	1047	Q8IVF2	AHNK2_HUMAN	I	1047	ENSP00000353114:S1047I	ENSP00000353114:S1047I	S	-	2	0	AHNAK2	104489693	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.375000	0.20518	-0.725000	0.04901	-0.479000	0.04858	AGC		TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	0	36	933	0	204	1	7.406379e-01	2	68	0	204	2		0	0	0	0	0	2	1	1	36	906	0	201	2								-3.947790	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.430000	0.300000	0.580000	0.430000	0.444087	0.430000	0	3.600000e-01	5.100000e-01
AHNAK2	113146	broad.mit.edu	37	14	105419440	105419440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105419440G>T	ENST00000333244.5	-	7	2467	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		TTCCGCCTTGGGGCCTTTCAG	0.627000																								0							SO:0001583	missense			ENST00000333244.5	1	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106012	0.37145	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	3.12	2.21	0.28008	.	.	.	.	.	T	0.19087	0.0458	M	0.91510	3.215	0.09310	N	1	D	0.67145	0.996	D	0.77004	0.989	T	0.05194	-1.0900	9	0.44086	T	0.13	.	6.823	0.23866	0.2304:0.0:0.7696:0.0	.	783	Q8IVF2	AHNK2_HUMAN	H	783	ENSP00000353114:P783H	ENSP00000353114:P783H	P	-	2	0	AHNAK2	104490485	0.003000	0.15002	0.004000	0.12327	0.008000	0.06430	0.699000	0.25586	0.297000	0.22615	0.485000	0.47835	CCC		TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	1	256	1048	1	250	1	9.914541e-01	24	8	1	250	2		0	0	0	0	0	2	1	1	244	954	1	257	17								-3.283455	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHNAK2	113146	broad.mit.edu	37	14	105420293	105420293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105420293C>A	ENST00000333244.5	-	7	1614	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		GGCTCTTTTTCTGTGGAAAAT	0.507000																								0							SO:0001587	stop_gained			ENST00000333244.5	0	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	37	6.337537	0.97485	.	.	ENSG00000185567	ENST00000333244	.	.	.	5.03	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.3871	0.32508	0.2317:0.3946:0.3736:0.0	.	.	.	.	X	499	.	ENSP00000353114:E499X	E	-	1	0	AHNAK2	104491338	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.375000	0.20518	0.569000	0.29329	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	1	0	1	80	327	0	65	1	1	21	82	0	65	2		0	0	0	0	0	2	1	1	79	322	0	64	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDCA4	55038	broad.mit.edu	37	14	105477705	105477705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105477705A>G	ENST00000336219.3	-	2	717	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4			6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)		AGGTCGTAGTAGGGGCTGTCC	0.587000																								0							SO:0001583	missense			ENST00000336219.3	1	1	hg19	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739827	0.49045	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.45276	0.9;0.9	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.70275	2.135	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.63743	-0.6568	10	0.45353	T	0.12	-0.0155	13.5504	0.61728	1.0:0.0:0.0:0.0	.	188	Q9BXL8	CDCA4_HUMAN	H	188	ENSP00000337226:Y188H;ENSP00000376369:Y188H	ENSP00000337226:Y188H	Y	-	1	0	CDCA4	104548750	1.000000	0.71417	0.994000	0.49952	0.088000	0.18126	5.796000	0.69080	1.856000	0.53863	0.529000	0.55759	TAC		TCGA-IB-7651-01A-11D-2154-08	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	1	0	1	59	269	0	45	1	9.971099e-01	12	31	0	45	2		0	0	0	0	0	2	1	1	59	262	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR132	29933	broad.mit.edu	37	14	105517442	105517442	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517442G>A	ENST00000329797.3	-	4	1943	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	GPR132_ENST00000392585.2_Silent_p.T335T|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000539291.2_Silent_p.T344T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132			18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)		GCAGCTCCTCGGTGTCCCTGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000329797.3	1	1	hg19	CCDS9997.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	1	0	0	16	317	0	68	0	2.886745e-01	0	21	0	68	2		0	0	0	0	0	2	1	9.999285e-01	16	311	0	68	2								-2.831633	1	1	121412	3	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.560000	0.330000	0.860000	0.550000	0.585271	0.560000	0	4.400000e-01	7.200000e-01
GPR132	29933	broad.mit.edu	37	14	105517775	105517775	+	Silent	SNP	G	G	A	rs75775050	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517775G>A	ENST00000329797.3	-	4	1610	c.699C>T	c.(697-699)agC>agT	p.S233S	GPR132_ENST00000392585.2_Silent_p.S224S|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000539291.2_Silent_p.S233S	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	p.S233S(1)		18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)		TCTGGGCAGCGCTTAAGCCCA	0.577000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000329797.3	1	0	hg19	CCDS9997.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	1	0	1	80	258	0	64	0	9.650560e-01	1	19	0	64	2		0	0	0	0	0	2	1	1	80	258	0	63	2								-2.710193	1	1	121412	230	54	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAG2	3714	broad.mit.edu	37	14	105613723	105613723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105613723C>T	ENST00000331782.3	-	20	2822	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2			22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)		CAGTTGACGCCGTCAACACAG	0.667000																								0							SO:0001583	missense			ENST00000331782.3	0	1	hg19	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.906351	0.92107	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.96459	-4.02;-4.02	4.19	4.19	0.49359	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.955;1.0	D	0.97566	1.0101	10	0.62326	D	0.03	.	15.6731	0.77295	0.0:1.0:0.0:0.0	.	769;807	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	S	807;769	ENSP00000328169:G807S;ENSP00000328566:G769S	ENSP00000328169:G807S	G	-	1	0	JAG2	104684768	0.987000	0.35691	0.868000	0.34077	0.640000	0.38277	5.757000	0.68766	2.172000	0.68678	0.446000	0.29264	GGC		TCGA-IB-7651-01A-11D-2154-08	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	1	0	0	10	68	0	10	0	4.939700e-01	0	12	0	10	2		0	0	0	0	0	2	1	9.971549e-01	9	67	0	10	2								-17.334410	1	1	120320	1	18	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.770000	1.000000	1.000000	0.983697	0.990000	1	9.900000e-01	1
JAG2	3714	broad.mit.edu	37	14	105614748	105614748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105614748G>A	ENST00000331782.3	-	16	2452	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	JAG2_ENST00000347004.2_Silent_p.C645C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2			22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)		CGCGGCTGTGGCAGGGATCGG	0.692000																								0							SO:0001819	synonymous_variant			ENST00000331782.3	1	1	hg19	CCDS9998.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	1	0	0	26	193	0	34	0	4.790205e-01	0	13	0	34	2		0	0	0	0	0	2	1	9.999999e-01	26	190	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.930000	1.000000	1.000000	0.996279	0.990000	1	9.900000e-01	1
JAG2	3714	broad.mit.edu	37	14	105617706	105617706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105617706C>T	ENST00000331782.3	-	9	1584	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2			22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)		ACCGGCCGCACACGGGTTCGA	0.657000																								0							SO:0001583	missense			ENST00000331782.3	1	1	hg19	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235646	0.58886	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.99992	-12.4;-12.4	3.76	3.76	0.43208	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99994	0.9999	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99989	1.3819	10	0.87932	D	0	.	13.0718	0.59066	0.0:1.0:0.0:0.0	.	394;394	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Y	394	ENSP00000328169:C394Y;ENSP00000328566:C394Y	ENSP00000328169:C394Y	C	-	2	0	JAG2	104688751	1.000000	0.71417	0.446000	0.26920	0.386000	0.30323	5.834000	0.69361	1.610000	0.50200	0.297000	0.19635	TGT		TCGA-IB-7651-01A-11D-2154-08	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	1	0	1	36	154	0	53	1	6.954158e-01	2	10	0	53	2		0	0	0	0	0	2	1	1	36	151	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
JAG2	3714	broad.mit.edu	37	14	105621927	105621927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105621927C>T	ENST00000331782.3	-	5	1163	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.G254R	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2			22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)		GTGCATCCCCCGTGGAGCAAA	0.647000																								0							SO:0001583	missense			ENST00000331782.3	1	1	hg19	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694988	0.68386	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;T	0.48836	0.8;0.8	3.76	3.76	0.43208	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.76300	0.3968	H	0.94964	3.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84545	0.0641	10	0.87932	D	0	.	14.9103	0.70752	0.0:1.0:0.0:0.0	.	254;254	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	R	254	ENSP00000328169:G254R;ENSP00000328566:G254R	ENSP00000328169:G254R	G	-	1	0	JAG2	104692972	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.059000	0.76684	1.796000	0.52611	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2	1	0	1	119	549	0	87	1	7.015543e-01	2	11	0	87	2		0	0	0	0	0	2	1	1	119	539	0	86	2								-2.389816	0	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUDT14	256281	broad.mit.edu	37	14	105643299	105643299	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105643299C>T	ENST00000392568.2	-	3	284		c.e3+1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14			14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)		GCTGGCCTCACCTGGCCGGAA	0.612000										HNSCC(42;0.11)														0							SO:0001630	splice_region_variant			ENST00000392568.2	1	1	hg19	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947373	0.73672	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8587	0.52453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUDT14	104714344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.518000	0.67068	2.506000	0.84524	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	1	0	1	15	83	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.999170e-01	15	83	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998011	0.990000	1	9.900000e-01	1
BRF1	2972	broad.mit.edu	37	14	105677562	105677562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105677562G>A	ENST00000546474.1	-	17	16852	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	BRF1_ENST00000440513.3_Silent_p.S538S|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit			24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)		ACACGGGCCCGCTCTCCACCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000546474.1	1	1	hg19	CCDS10001.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	1	0	0	87	330	0	68	1	9.979905e-01	11	27	0	68	2		0	0	0	0	0	2	1	1	84	323	0	66	2								-3.579664	1	1	121374	2	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRF1	2972	broad.mit.edu	37	14	105695248	105695248	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105695248G>T	ENST00000546474.1	-	7	15656	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	BRF1_ENST00000440513.3_Missense_Mutation_p.L118I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000379932.4_Missense_Mutation_p.L29I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit			24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)		GCAACCAGGAGCGCTGGAAGG	0.607000																								0							SO:0001583	missense			ENST00000546474.1	1	1	hg19	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.848046|2.848046	0.51164|0.51164	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000546417|ENST00000392557;ENST00000379937;ENST00000546474;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127;ENST00000550208	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.985;0.999;0.999	.|D;D;D	.|0.79108	.|0.946;0.99;0.992	T|T	0.79095|0.79095	-0.1944|-0.1944	6|9	0.87932|0.72032	D|D	0|0.01	.|.	16.143|16.143	0.81539|0.81539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;206;233	.|F5H5Z7;Q92994-5;Q92994	.|.;.;TF3B_HUMAN	D|I	86|29;206;233;29;29;29;118;118;29;29;29	.|.	ENSP00000450258:A86D|ENSP00000329029:L118I	A|L	-|-	2|1	0|0	BRF1|BRF1	104766293|104766293	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.004000|0.004000	0.04260|0.04260	8.878000|8.878000	0.92393|0.92393	2.397000|2.397000	0.81536|0.81536	0.591000|0.591000	0.81541|0.81541	GCT|CTC		TCGA-IB-7651-01A-11D-2154-08	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	1	0	1	286	1064	0	256	1	9.692539e-01	8	15	0	256	2		0	0	0	0	0	2	1	1	282	1045	0	253	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRF1	2972	broad.mit.edu	37	14	105739099	105739099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105739099G>A	ENST00000546474.1	-	3	15357	c.398C>T	c.(397-399)gCt>gTt	p.A133V	BRF1_ENST00000440513.3_Missense_Mutation_p.A18V|BRF1_ENST00000379937.2_Missense_Mutation_p.A106V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V|BRF1_ENST00000548421.1_Missense_Mutation_p.A133V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit			24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)		GAGGCAGGCAGCAATCACGTG	0.622000																								0							SO:0001583	missense			ENST00000546474.1	0	1	hg19	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579328	0.86645	.	.	ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513;ENST00000550692;ENST00000548421;ENST00000345053	.	.	.	5.03	5.03	0.67393	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	M	0.93150	3.385	0.80722	D	1	D;D;D;D	0.89917	0.997;0.995;1.0;0.999	D;D;D;D	0.77557	0.963;0.97;0.99;0.99	D	0.89856	0.4013	9	0.87932	D	0	.	15.8531	0.78952	0.0:0.0:1.0:0.0	.	18;106;133;133	F5H5Z7;Q92994-5;Q96KX3;Q92994	.;.;.;TF3B_HUMAN	V	106;133;18;18;18;133;133	.	ENSP00000329029:A18V	A	-	2	0	BRF1	104810144	1.000000	0.71417	0.590000	0.28732	0.485000	0.33311	9.158000	0.94723	2.333000	0.79357	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	0	0	0	9	453	1	79	0	2.587630e-02	0	28	1	79	3		0	0	0	0	0	2	0	2.359874e-02	9	440	1	75	20								-7.797883	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.230000	0.110000	0.410000	0.220000	0.249740	0.230000	0	1.600000e-01	3.200000e-01
MTA1	9112	broad.mit.edu	37	14	105905013	105905013	+	Silent	SNP	C	C	T	rs148162904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105905013C>T	ENST00000331320.7	+	2	247	c.33C>T	c.(31-33)taC>taT	p.Y11Y	MTA1_ENST00000406191.1_Silent_p.Y11Y|MTA1_ENST00000405646.1_Silent_p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	p.Y11Y(1)		14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)		TTGCAGACTACGTCTACTTTG	0.612000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000331320.7	1	1	hg19	CCDS32169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15	0	0	0	178	767	0	164	1	7.703961e-01	3	11	0	164	2		0	0	0	0	0	2	1	1	176	754	0	164	2								-20.000000	1	0	121408	4	41	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRIP2	1397	broad.mit.edu	37	14	105945984	105945984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105945984G>T	ENST00000329146.4	+	8	1334	c.621G>T	c.(619-621)caG>caT	p.Q207H	CRIP2_ENST00000483017.3_Missense_Mutation_p.Q281H|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2			2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)		GCAAGGTCCAGCCCTAGGCTA	0.677000																								0							SO:0001583	missense			ENST00000329146.4	1	1	hg19	CCDS10003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.724626|2.724626	0.48833|0.48833	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000550577;ENST00000538259|ENST00000483017;ENST00000329146	.|T;T	.|0.73789	.|-0.78;-0.28	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|.	.|.	.|.	.|.	T|T	0.73528|0.73528	0.3598|0.3598	N|N	0.19112|0.19112	0.55|0.55	0.47621|0.47621	D|D	0.999477|0.999477	.|D;D;D	.|0.65815	.|0.989;0.995;0.989	.|P;P;P	.|0.62885	.|0.854;0.908;0.795	T|T	0.76165|0.76165	-0.3059|-0.3059	5|9	.|0.62326	.|D	.|0.03	-3.9129|-3.9129	11.5747|11.5747	0.50854|0.50854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;207;207	.|B7Z6C0;Q53FN1;P52943	.|.;.;CRIP2_HUMAN	S|H	103;191|281;207	.|ENSP00000426119:Q281H;ENSP00000328521:Q207H	.|ENSP00000328521:Q207H	A|Q	+|+	1|3	0|2	CRIP2|CRIP2	105017029|105017029	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.142000|0.142000	0.21351|0.21351	2.940000|2.940000	0.49003|0.49003	2.082000|2.082000	0.62665|0.62665	0.313000|0.313000	0.20887|0.20887	GCC|CAG		TCGA-IB-7651-01A-11D-2154-08	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	0	0	0	6	87	0	27	0	8.128469e-01	1	46	0	27	2		0	0	0	0	0	2	1	9.666314e-01	6	87	0	27	2								-10.521330	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.770000	0.330000	1.000000	1.000000	0.764224	0.770000	0	5.200000e-01	1
TMEM121	80757	broad.mit.edu	37	14	105995269	105995269	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105995269A>C	ENST00000392519.2	+	2	262	c.98A>C	c.(97-99)aAc>aCc	p.N33T	TMEM121_ENST00000431372.1_Missense_Mutation_p.N33T	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121			3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)		GTGGAGCAGAACCAGGGCCCG	0.687000																								0							SO:0001583	missense			ENST00000392519.2	0	1	hg19	CCDS10006.1	.	.	.	.	.	.	.	.	.	.	a	14.33	2.503675	0.44558	.	.	ENSG00000184986	ENST00000392519;ENST00000431372	.	.	.	3.77	2.32	0.28847	.	0.068612	0.56097	U	0.000027	T	0.34948	0.0915	L	0.27053	0.805	0.53688	D	0.999971	B	0.34181	0.44	B	0.31614	0.133	T	0.33189	-0.9878	9	0.66056	D	0.02	.	8.4915	0.33104	0.8774:0.0:0.1226:0.0	.	33	Q9BTD3	TM121_HUMAN	T	33	.	ENSP00000376304:N33T	N	+	2	0	TMEM121	105066314	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.530000	0.67141	1.355000	0.45865	0.397000	0.26171	AAC		TCGA-IB-7651-01A-11D-2154-08	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	1	0	0	16	51	0	9	0	0	0	1	0	9	2		0	0	0	0	0	2	1	9.999616e-01	15	50	0	9	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
OR11H12	440153	broad.mit.edu	37	14	19377733	19377733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19377733C>T	ENST00000550708.1	+	1	212	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12			22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		TCACTCTTTACTACAACATAT	0.423000																								0							SO:0001583	missense			ENST00000550708.1	1	1	hg19	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	4.775	0.144168	0.09134	.	.	ENSG00000257115	ENST00000550708	T	0.00569	6.52	.	.	.	.	0.818440	0.10176	N	0.706451	T	0.00384	0.0012	N	0.20483	0.58	0.24248	N	0.995334	B	0.20261	0.043	B	0.15484	0.013	T	0.43686	-0.9376	8	0.66056	D	0.02	.	2.8235	0.05479	0.0:0.591:0.0:0.409	.	47	B2RN74	O11HC_HUMAN	I	47	ENSP00000449002:T47I	ENSP00000449002:T47I	T	+	2	0	CR383656.1	18447733	0.000000	0.05858	0.814000	0.32528	0.065000	0.16274	-0.124000	0.10595	0.413000	0.25759	0.064000	0.15345	ACT		TCGA-IB-7651-01A-11D-2154-08	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	0	0	0	54	451	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	37	335	0	160	2								-18.506850	1	1	0	0		1						0.170000	2.060000									0	0
POTEG	404785	broad.mit.edu	37	14	19566057	19566057	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19566057A>C	ENST00000409832.3	+	6	1153	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G			47					AGATGCTAAAAGTCTCTTCTG	0.318000																								0							SO:0001583	missense			ENST00000409832.3	1	1	hg19	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	10.67	1.416102	0.25552	.	.	ENSG00000222036	ENST00000409832	T	0.16897	2.31	2.2	-1.92	0.07618	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.13243	0.0321	L	0.48362	1.52	0.09310	N	1	B	0.21147	0.052	B	0.24541	0.054	T	0.34750	-0.9816	9	0.39692	T	0.17	.	5.1066	0.14787	0.3344:0.0:0.0:0.6656	.	367	Q6S5H5	POTEG_HUMAN	N	367	ENSP00000386971:K367N	ENSP00000386971:K367N	K	+	3	2	POTEG	18636057	0.006000	0.16342	0.001000	0.08648	0.008000	0.06430	0.146000	0.16180	-0.002000	0.14469	0.155000	0.16302	AAA		TCGA-IB-7651-01A-11D-2154-08	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	0	0	0	36	519	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1	28	375	0	128	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.750000	0.540000	1.000000	1.000000	0.768897	0.750000	0	6.400000e-01	8.900000e-01
OR4Q3	441669	broad.mit.edu	37	14	20215653	20215653	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20215653C>T	ENST00000331723.1	+	1	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3			47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		TTCTTGGGAGCTGCAGCTATT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000331723.1	1	1	hg19	CCDS32020.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	1	0	1	89	649	0	155		0	0	0	0	155	2		0	0	0	0	0	2	1	1	88	639	0	154	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
OR4Q3	441669	broad.mit.edu	37	14	20216181	20216181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216181C>T	ENST00000331723.1	+	1	595	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3			47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		GGTAGAGGTGCTGGTGATAGC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000331723.1	1	1	hg19	CCDS32020.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	0	0	0	19	384	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	9.999893e-01	19	375	0	72	2								-4.986176	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.550000	0.340000	0.820000	0.550000	0.571249	0.550000	0	4.400000e-01	6.900000e-01
OR4Q3	441669	broad.mit.edu	37	14	20216295	20216295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216295G>A	ENST00000331723.1	+	1	709	c.709G>A	c.(709-711)Gtc>Atc	p.V237I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3			47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		CCAGAACAAGGTCTTCTCTAC	0.483000																								0							SO:0001583	missense			ENST00000331723.1	1	1	hg19	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.243	0.807218	0.16467	.	.	ENSG00000182652	ENST00000331723	T	0.00202	8.56	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.182095	0.25798	U	0.028227	T	0.00178	0.0005	L	0.31578	0.945	0.09310	N	0.999998	B	0.27166	0.17	B	0.32022	0.139	T	0.48896	-0.8994	10	0.87932	D	0	.	13.8562	0.63529	0.0:0.0:1.0:0.0	.	237	Q8NH05	OR4Q3_HUMAN	I	237	ENSP00000330049:V237I	ENSP00000330049:V237I	V	+	1	0	OR4Q3	19286135	0.986000	0.35501	0.967000	0.41034	0.006000	0.05464	3.452000	0.52971	2.106000	0.64143	0.509000	0.49947	GTC		TCGA-IB-7651-01A-11D-2154-08	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	1	0	0	63	583	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	61	575	0	121	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.880000	1.000000	1.000000	0.991617	0.990000	1	9.900000e-01	1
OR4M1	441670	broad.mit.edu	37	14	20248580	20248580	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20248580C>A	ENST00000315957.4	+	1	180	c.99C>A	c.(97-99)tcC>tcA	p.S33S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1			42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		TATTTCTATCCTTCTATTTGT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000315957.4	1	1	hg19	CCDS32021.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1	1	0	1	185	1349	0	283		0	0	0	0	283	2		0	0	0	0	0	2	1	1	180	1310	0	284	2								-3.318794	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4M1	441670	broad.mit.edu	37	14	20249045	20249045	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20249045C>A	ENST00000315957.4	+	1	645	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1			42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		TCCGGATTGCCTGTGCCAACA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000315957.4	1	1	hg19	CCDS32021.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1	1	0	0	188	1154	0	268		0	0	0	0	268	2		0	0	0	0	0	2	1	1	168	1003	0	315	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4N2	390429	broad.mit.edu	37	14	20296207	20296207	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296207C>A	ENST00000315947.1	+	1	600	c.600C>A	c.(598-600)gtC>gtA	p.V200V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2			52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		TTCTGATGGTCTTCAACAGTG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000315947.1	1	1	hg19	CCDS32022.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2	0	0	0	22	886	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	9.999983e-01	22	866	0	148	2								-3.160731	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.280000	0.180000	0.410000	0.290000	0.294453	0.280000	0	2.200000e-01	3.500000e-01
OR4N2	390429	broad.mit.edu	37	14	20296521	20296521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296521A>G	ENST00000315947.1	+	1	914	c.914A>G	c.(913-915)cAc>cGc	p.H305R	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2			52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		TTTAATAAGCACATAGCCTGA	0.343000																								0							SO:0001583	missense			ENST00000315947.1	1	1	hg19	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	5.566	0.289193	0.10513	.	.	ENSG00000176294	ENST00000315947	T	0.00001	9.91	4.57	2.05	0.26809	.	0.281551	0.25566	N	0.029790	T	0.00039	0.0001	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.01192	-1.1423	10	0.22706	T	0.39	.	6.2231	0.20693	0.674:0.1664:0.0:0.1596	.	305	Q8NGD1	OR4N2_HUMAN	R	305	ENSP00000319601:H305R	ENSP00000319601:H305R	H	+	2	0	OR4N2	19366361	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.702000	0.37836	0.301000	0.22738	0.482000	0.46254	CAC		TCGA-IB-7651-01A-11D-2154-08	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2	1	0	0	35	208	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	34	203	0	44	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999922	0.990000	1	9.900000e-01	1
OR4K5	79317	broad.mit.edu	37	14	20389182	20389182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20389182G>T	ENST00000315915.4	+	1	442	c.417G>T	c.(415-417)agG>agT	p.R139S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5			47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		TGAGCCGAAGGACATGCACTG	0.453000																								0							SO:0001583	missense			ENST00000315915.4	1	1	hg19	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189108	0.09547	.	.	ENSG00000176281	ENST00000315915	T	0.40756	1.02	4.41	-4.2	0.03823	GPCR, rhodopsin-like superfamily (1);	0.544994	0.16027	N	0.233039	T	0.28300	0.0699	L	0.55213	1.73	0.09310	N	1	B	0.21452	0.056	B	0.24974	0.057	T	0.27938	-1.0059	10	0.59425	D	0.04	.	0.8276	0.01124	0.4045:0.1219:0.2264:0.2472	.	139	Q8NGD3	OR4K5_HUMAN	S	139	ENSP00000319511:R139S	ENSP00000319511:R139S	R	+	3	2	OR4K5	19459022	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-2.953000	0.00676	-0.847000	0.04168	-0.137000	0.14449	AGG		TCGA-IB-7651-01A-11D-2154-08	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	0	0	1	198	1342	1	310		0	0	0	1	310	2		0	0	0	0	0	2	1	1	195	1315	1	308	18								-20.000000	1	1	121412	1	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4K1	79544	broad.mit.edu	37	14	20404198	20404198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404198G>T	ENST00000285600.4	+	1	432	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1			43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		CAGATTTATAGCCATATGTAA	0.438000																								0							SO:0001583	missense			ENST00000285600.4	1	1	hg19	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.936499	0.73442	.	.	ENSG00000155249	ENST00000285600	T	0.01209	5.17	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.15089	0.0364	H	0.98786	4.33	0.38505	D	0.948311	D	0.89917	1.0	D	0.91635	0.999	T	0.30416	-0.9979	10	0.87932	D	0	.	15.7026	0.77552	0.0:0.0:1.0:0.0	.	125	Q8NGD4	OR4K1_HUMAN	S	125	ENSP00000285600:A125S	ENSP00000285600:A125S	A	+	1	0	OR4K1	19474038	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	6.825000	0.75293	2.557000	0.86248	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1	1	0	1	77	642	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	76	632	0	127	2								-19.999970	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999081	0.990000	1	9.900000e-01	1
OR4K1	79544	broad.mit.edu	37	14	20404376	20404376	+	Missense_Mutation	SNP	T	T	C	rs138642977	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404376T>C	ENST00000285600.4	+	1	610	c.551T>C	c.(550-552)gTg>gCg	p.V184A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1			43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		CTTCCCTTGGTGATAGAGCTG	0.453000																								0							SO:0001583	missense			ENST00000285600.4	1	0	hg19	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	19.35	3.811479	0.70797	.	.	ENSG00000155249	ENST00000285600	T	0.00231	8.49	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.138510	0.33854	N	0.004496	T	0.00815	0.0027	H	0.95611	3.695	0.33978	D	0.64758	P	0.50272	0.933	D	0.65573	0.936	T	0.10245	-1.0638	10	0.87932	D	0	.	12.3562	0.55176	0.0:0.0:0.0:1.0	.	184	Q8NGD4	OR4K1_HUMAN	A	184	ENSP00000285600:V184A	ENSP00000285600:V184A	V	+	2	0	OR4K1	19474216	0.125000	0.22332	1.000000	0.80357	0.927000	0.56198	2.704000	0.47118	2.011000	0.59026	0.460000	0.39030	GTG		TCGA-IB-7651-01A-11D-2154-08	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1	1	0	1	115	614	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	111	596	0	132	2								-5.341058	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4K14	122740	broad.mit.edu	37	14	20482665	20482665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20482665C>T	ENST00000305045.2	-	1	687	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14			37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)		CTACCGGCAGCACGCTGTCTG	0.493000																								0							SO:0001583	missense			ENST00000305045.2	0	1	hg19	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	6.804	0.517319	0.13005	.	.	ENSG00000169484	ENST00000305045	T	0.35789	1.29	4.04	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.533866	0.15451	N	0.261671	T	0.17577	0.0422	N	0.11870	0.19	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.13872	-1.0493	10	0.59425	D	0.04	.	3.1463	0.06473	0.4265:0.3728:0.0:0.2007	.	230	Q8NGD5	OR4KE_HUMAN	T	230	ENSP00000305011:A230T	ENSP00000305011:A230T	A	-	1	0	OR4K14	19552505	0.000000	0.05858	0.013000	0.15412	0.302000	0.27658	-1.249000	0.02888	0.864000	0.35578	0.505000	0.49811	GCT		TCGA-IB-7651-01A-11D-2154-08	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1	0	0	0	6	176	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	9.645480e-01	6	174	0	42	2								-3.825802	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.400000	0.170000	0.760000	0.390000	0.433252	0.400000	0	2.700000e-01	5.800000e-01
OR4K14	122740	broad.mit.edu	37	14	20483064	20483064	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20483064C>A	ENST00000305045.2	-	1	288	c.289G>T	c.(289-291)Gga>Tga	p.G97*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14			37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)		GCCATACATCCTCCAAAGGAG	0.488000																								0							SO:0001587	stop_gained			ENST00000305045.2	0	1	hg19	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.412246	0.83340	.	.	ENSG00000169484	ENST00000305045	.	.	.	4.04	4.04	0.47022	.	0.000000	0.43747	D	0.000522	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1214	0.72447	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000305011:G97X	G	-	1	0	OR4K14	19552904	0.007000	0.16637	1.000000	0.80357	0.915000	0.54546	2.340000	0.43974	2.086000	0.62901	0.505000	0.49811	GGA		TCGA-IB-7651-01A-11D-2154-08	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1	1	0	1	43	230	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	43	220	0	52	2								-3.240057	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
OR11G2	390439	broad.mit.edu	37	14	20666038	20666038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666038C>A	ENST00000357366.3	+	1	544	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2			22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)		CTGTACCAATCTTGTGGTCAA	0.443000																								0							SO:0001583	missense			ENST00000357366.3	1	1	hg19	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308375	0.23821	.	.	ENSG00000196832	ENST00000357366	T	0.39056	1.1	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000814	T	0.65165	0.2665	M	0.85945	2.785	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.60342	-0.7282	10	0.62326	D	0.03	.	10.6449	0.45615	0.0:0.9109:0.0:0.0891	.	182	Q8NGC1	O11G2_HUMAN	I	182	ENSP00000349930:L182I	ENSP00000349930:L182I	L	+	1	0	OR11G2	19735878	0.001000	0.12720	0.099000	0.21106	0.002000	0.02628	-0.184000	0.09698	2.565000	0.86533	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1	1	0	1	47	274	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	46	266	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
OR11G2	390439	broad.mit.edu	37	14	20666258	20666258	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666258C>T	ENST00000357366.3	+	1	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2			22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)		ATTGTGGGGTCCTATGCTCTG	0.498000																								0							SO:0001583	missense			ENST00000357366.3	1	1	hg19	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442884	0.63067	.	.	ENSG00000196832	ENST00000357366	T	0.42513	0.97	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.145321	0.31747	N	0.007129	T	0.63271	0.2497	H	0.94808	3.585	0.28100	N	0.931451	P	0.40909	0.732	P	0.47470	0.548	T	0.67945	-0.5539	10	0.87932	D	0	.	12.1995	0.54317	0.1708:0.8292:0.0:0.0	.	255	Q8NGC1	O11G2_HUMAN	F	255	ENSP00000349930:S255F	ENSP00000349930:S255F	S	+	2	0	OR11G2	19736098	1.000000	0.71417	0.925000	0.36789	0.786000	0.44442	7.118000	0.77137	2.565000	0.86533	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1	1	0	1	176	885	0	199		0	0	0	0	199	2		0	0	0	0	0	2	1	1	171	865	0	198	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR11H6	122748	broad.mit.edu	37	14	20692788	20692788	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20692788T>C	ENST00000315519.2	+	1	998	c.920T>C	c.(919-921)aTc>aCc	p.I307T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	p.I307N(1)		29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)		AATCCCCTTATCTATAGTCTT	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000315519.2	1	1	hg19	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.164991	0.38217	.	.	ENSG00000176219	ENST00000315519	T	0.57273	0.41	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.73410	0.3583	H	0.96916	3.905	0.38505	D	0.948328	P	0.45672	0.864	P	0.48770	0.589	D	0.83968	0.0325	10	0.87932	D	0	.	12.6958	0.57003	0.0:0.0:0.0:1.0	.	307	Q8NGC7	O11H6_HUMAN	T	307	ENSP00000319071:I307T	ENSP00000319071:I307T	I	+	2	0	OR11H6	19762628	1.000000	0.71417	0.995000	0.50966	0.156000	0.22039	7.402000	0.79972	2.094000	0.63399	0.386000	0.25728	ATC		TCGA-IB-7651-01A-11D-2154-08	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1	1	0	1	128	471	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	127	466	0	131	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC5	91875	broad.mit.edu	37	14	20767555	20767555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20767555C>T	ENST00000258821.3	-	4	505	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5			15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)		AGTGTCAGTCCGCAGCTGACG	0.502000																								0							SO:0001583	missense			ENST00000258821.3	1	1	hg19	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534768	0.27475	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	4.89	1.0	0.19881	Tetratricopeptide-like helical (1);	0.201780	0.44902	N	0.000412	T	0.14270	0.0345	N	0.15975	0.35	0.28403	N	0.918559	B	0.06786	0.001	B	0.04013	0.001	T	0.29243	-1.0018	10	0.12766	T	0.61	.	9.0259	0.36230	0.0:0.6849:0.0:0.3151	.	150	Q8N0Z6	TTC5_HUMAN	Q	150	ENSP00000258821:R150Q	ENSP00000258821:R150Q	R	-	2	0	TTC5	19837395	0.991000	0.36638	0.502000	0.27614	0.937000	0.57800	2.490000	0.45294	0.083000	0.17047	-0.127000	0.14921	CGG		TCGA-IB-7651-01A-11D-2154-08	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	1	0	1	26	330	0	46	1	6.411771e-01	5	24	0	46	2		0	0	0	0	0	2	1	9.999999e-01	25	329	0	46	2								-2.429495	0	1	121412	1	28	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.850000	0.570000	1.000000	1.000000	0.849937	0.850000	1	7.000000e-01	1
TTC5	91875	broad.mit.edu	37	14	20770011	20770011	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20770011C>A	ENST00000258821.3	-	2	221	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5			15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)		CTTCCATCTGCTGTAGGGTTT	0.473000																								0							SO:0001583	missense			ENST00000258821.3	1	1	hg19	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.19|11.19	1.565085|1.565085	0.27915|0.27915	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821;ENST00000553828	.|T	.|0.32272	.|1.46	4.44|4.44	0.638|0.638	0.17742|0.17742	.|Tetratricopeptide-like helical (1);	.|0.349613	.|0.31279	.|N	.|0.007923	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.19112|0.19112	0.55|0.55	0.28962|0.28962	N|N	0.889745|0.889745	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.07309|0.07309	-1.0779|-1.0779	5|10	.|0.48119	.|T	.|0.1	.|.	1.72|1.72	0.02909|0.02909	0.1481:0.4512:0.1449:0.2559|0.1481:0.4512:0.1449:0.2559	.|.	.|55	.|Q8N0Z6	.|TTC5_HUMAN	S|H	55|55;6	.|ENSP00000258821:Q55H	.|ENSP00000258821:Q55H	A|Q	-|-	1|3	0|2	TTC5|TTC5	19839851|19839851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	0.827000|0.827000	0.27421|0.27421	0.520000|0.520000	0.28426|0.28426	0.650000|0.650000	0.86243|0.86243	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	1	0	0	32	368	0	77	1	9.632763e-01	5	59	0	77	2		0	0	0	0	0	2	1	1	30	360	0	77	2								-9.714752	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.930000	0.650000	1.000000	1.000000	0.907790	0.930000	1	7.800000e-01	1
CCNB1IP1	57820	broad.mit.edu	37	14	20784609	20784609	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20784609A>G	ENST00000398169.3	-	5	690	c.74T>C	c.(73-75)gTc>gCc	p.V25A	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase		HMGA2/CCNB1IP1(2)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)		GCAGGCAGTGACCCATGCATA	0.473000			T	HMGA2	leiomyoma										Dom	yes		14	14q11.2	57820	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase		M	0							SO:0001583	missense			ENST00000398169.3	1	1	hg19	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	A	35	5.475759	0.96291	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665;ENST00000556563	D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	L	0.48642	1.525	0.53005	D	0.999965	D	0.64830	0.994	P	0.60541	0.876	D	0.94325	0.7557	10	0.87932	D	0	-18.525	15.6114	0.76721	1.0:0.0:0.0:0.0	.	25	Q9NPC3	CIP1_HUMAN	A	25;25;25;25;25;25;25;56	ENSP00000381226:V25A;ENSP00000381235:V25A;ENSP00000351810:V25A;ENSP00000337396:V25A;ENSP00000409896:V25A;ENSP00000381229:V25A;ENSP00000452486:V25A	ENSP00000337396:V25A	V	-	2	0	CCNB1IP1	19854449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.302000	0.89953	2.326000	0.78906	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	1	0	1	43	248	0	71	1	9.999997e-01	37	99	0	71	2		0	0	0	0	0	2	1	1	39	246	0	70	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
PARP2	10038	broad.mit.edu	37	14	20825861	20825861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20825861A>G	ENST00000250416.5	+	16	1684	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	PARP2_ENST00000429687.3_Missense_Mutation_p.T540A|PARP2_ENST00000527915.1_3'UTR	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2			15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)		AGATGGTTATACCCTCAACTA	0.408000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																0							SO:0001583	missense			ENST00000250416.5	1	1	hg19	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872388	0.33069	.	.	ENSG00000129484	ENST00000429687;ENST00000250416	T;T	0.04809	3.55;3.55	5.65	4.52	0.55395	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.204024	0.42420	D	0.000701	T	0.04724	0.0128	L	0.40543	1.245	0.80722	D	1	B;B	0.30511	0.028;0.282	B;B	0.24006	0.008;0.05	T	0.47355	-0.9124	10	0.29301	T	0.29	-16.6007	10.6316	0.45541	0.9247:0.0:0.0753:0.0	.	540;553	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	A	540;553	ENSP00000392972:T540A;ENSP00000250416:T553A	ENSP00000250416:T553A	T	+	1	0	PARP2	19895701	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.408000	0.59761	1.166000	0.42689	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2	0	0	1	78	409	1	96	1	9.936797e-01	23	42	1	96	4		0	0	0	0	0	2	1	1	75	400	1	96	17								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEP1	7011	broad.mit.edu	37	14	20841224	20841224	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841224A>G	ENST00000262715.5	-	48	6937	c.6897T>C	c.(6895-6897)aaT>aaC	p.N2299N	TEP1_ENST00000556935.1_Silent_p.N2191N|TEP1_ENST00000545983.1_Silent_p.N637N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1			96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)		CCCCAGCTTGATTTCCAGATA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000262715.5	1	1	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	8.398	0.841223	0.16891	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	2.15	0.27550	.	.	.	.	.	T	0.31389	0.0795	.	.	.	0.27235	N	0.959305	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	-8.6531	5.7984	0.18399	0.6254:0.0:0.3746:0.0	.	.	.	.	P	6	.	.	S	-	1	0	TEP1	19911064	0.199000	0.23386	0.366000	0.25914	0.978000	0.69477	0.583000	0.23849	0.469000	0.27268	-0.250000	0.11733	TCA		TCGA-IB-7651-01A-11D-2154-08	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	0	69	327	0	81	1	9.968933e-01	15	29	0	81	2		0	0	0	0	0	2	1	1	67	312	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEP1	7011	broad.mit.edu	37	14	20841685	20841685	+	Missense_Mutation	SNP	C	C	T	rs146330073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841685C>T	ENST00000262715.5	-	46	6702	c.6662G>A	c.(6661-6663)cGg>cAg	p.R2221Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R2113Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1			96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)		ATGCCATAACCGTGTGGCCCC	0.557000																								0							SO:0001583	missense			ENST00000262715.5	1	1	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305268	0.40795	0.0	5.81E-4	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.61510	1.89;1.89;0.1	5.25	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.411730	0.25307	N	0.031618	T	0.35799	0.0944	N	0.19112	0.55	0.27025	N	0.964372	B;B;B;B	0.31125	0.09;0.309;0.266;0.206	B;B;B;B	0.23852	0.008;0.049;0.027;0.022	T	0.15780	-1.0425	10	0.33940	T	0.23	-14.7572	7.4458	0.27211	0.0:0.7966:0.0:0.2034	.	559;2113;1564;2221	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	Q	2221;2221;2113;559	ENSP00000262715:R2221Q;ENSP00000452574:R2113Q;ENSP00000438849:R559Q	ENSP00000262715:R2221Q	R	-	2	0	TEP1	19911525	0.415000	0.25416	0.993000	0.49108	0.927000	0.56198	0.585000	0.23879	0.593000	0.29745	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1	44	192	0	62	1	9.982039e-01	12	33	0	62	2		0	0	0	0	0	2	1	1	44	186	0	62	2								-20.000000	1	0	121412	9	40	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEP1	7011	broad.mit.edu	37	14	20841723	20841723	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841723C>T	ENST00000262715.5	-	46	6664	c.6624G>A	c.(6622-6624)gaG>gaA	p.E2208E	TEP1_ENST00000556935.1_Silent_p.E2100E|TEP1_ENST00000545983.1_Silent_p.E546E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1			96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)		CCACCAGAAGCTCTGACCCAG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000262715.5	1	1	hg19	CCDS9548.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1	17	237	0	72	1	8.649814e-01	9	43	0	72	2		0	0	0	0	0	2	1	9.999606e-01	17	229	0	72	2								-19.957010	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.780000	0.480000	1.000000	1.000000	0.790986	0.780000	0	6.200000e-01	9.800000e-01
TEP1	7011	broad.mit.edu	37	14	20843925	20843925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20843925C>T	ENST00000262715.5	-	43	6392	c.6352G>A	c.(6352-6354)Gat>Aat	p.D2118N	TEP1_ENST00000545983.1_Missense_Mutation_p.D456N|TEP1_ENST00000556935.1_Missense_Mutation_p.D2010N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1			96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)		AGTAGGTTATCTTTGGTCCAG	0.582000																								0							SO:0001583	missense			ENST00000262715.5	1	1	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492157	0.84962	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.81078	2.18;2.18;-1.45	5.62	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.219026	0.46145	N	0.000317	T	0.80788	0.4690	L	0.33339	1.005	0.38011	D	0.934544	D;B;D;B	0.60575	0.988;0.291;0.985;0.339	P;B;P;B	0.58266	0.836;0.177;0.802;0.168	T	0.81852	-0.0742	10	0.39692	T	0.17	-13.3143	11.8809	0.52576	0.0:0.9179:0.0:0.0821	.	456;2010;1461;2118	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	N	2118;2118;2010;456	ENSP00000262715:D2118N;ENSP00000452574:D2010N;ENSP00000438849:D456N	ENSP00000262715:D2118N	D	-	1	0	TEP1	19913765	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	1.942000	0.40243	1.380000	0.46344	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1	33	161	0	46	1	9.988314e-01	17	37	0	46	2		0	0	0	0	0	2	1	1	33	159	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
TEP1	7011	broad.mit.edu	37	14	20850180	20850180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20850180C>T	ENST00000262715.5	-	30	4356	c.4316G>A	c.(4315-4317)cGg>cAg	p.R1439Q	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.R1331Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1			96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)		CGGTAGTGTCCGCCACACACT	0.597000																								0							SO:0001583	missense			ENST00000262715.5	1	1	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	9.610	1.131068	0.21041	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.47177	0.89;0.85	5.22	-1.1	0.09872	.	1.168410	0.06032	N	0.653340	T	0.32823	0.0842	L	0.48362	1.52	0.09310	N	0.999999	B;B;B	0.23490	0.086;0.009;0.052	B;B;B	0.12837	0.008;0.005;0.003	T	0.16630	-1.0396	10	0.22706	T	0.39	-6.439	0.6813	0.00875	0.1717:0.3262:0.1566:0.3455	.	1331;782;1439	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1439;1439;1331	ENSP00000262715:R1439Q;ENSP00000452574:R1331Q	ENSP00000262715:R1439Q	R	-	2	0	TEP1	19920020	0.000000	0.05858	0.002000	0.10522	0.832000	0.47134	-0.892000	0.04131	-0.080000	0.12685	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1	57	274	0	55	1	9.992280e-01	10	44	0	55	2		0	0	0	0	0	2	1	1	56	269	0	55	2								-3.068176	1	1	121412	10	39	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEP1	7011	broad.mit.edu	37	14	20872901	20872901	+	Missense_Mutation	SNP	C	C	T	rs144854568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20872901C>T	ENST00000262715.5	-	5	941	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1			96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)		ACATTCCGGACGTTCAGCTGC	0.537000																								0							SO:0001583	missense			ENST00000262715.5	1	1	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169402	0.09339	2.27E-4	0.0	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.13307	2.6	5.55	-7.97	0.01139	TROVE (2);	0.481200	0.21268	N	0.077374	T	0.02230	0.0069	N	0.01789	-0.72	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41910	-0.9482	10	0.02654	T	1	-1.0592	3.0455	0.06152	0.0847:0.1609:0.1646:0.5899	.	301	Q99973	TEP1_HUMAN	I	301	ENSP00000262715:V301I	ENSP00000262715:V301I	V	-	1	0	TEP1	19942741	0.221000	0.23642	0.005000	0.12908	0.695000	0.40330	-0.075000	0.11431	-1.621000	0.01562	-0.150000	0.13652	GTC		TCGA-IB-7651-01A-11D-2154-08	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	1	0	1	44	214	0	58	1	9.455722e-01	6	20	0	58	2		0	0	0	0	0	2	1	1	44	208	0	57	2								-19.999920	1	1	121412	4	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSGEP	55644	broad.mit.edu	37	14	20916132	20916132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20916132C>T	ENST00000206542.4	-	8	1145	c.724G>A	c.(724-726)Gta>Ata	p.V242I	OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I|OSGEP_ENST00000555656.1_Missense_Mutation_p.V43I	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase			11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)		GTGATCTCTACCAGCATTGCA	0.473000																								0							SO:0001583	missense			ENST00000206542.4	1	1	hg19	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016385	0.54468	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.71	4.71	0.59529	Peptidase M22, glycoprotease (1);	0.058863	0.64402	D	0.000003	T	0.44993	0.1320	L	0.48986	1.54	0.80722	D	1	B	0.19331	0.035	B	0.33690	0.168	T	0.42666	-0.9438	10	0.45353	T	0.12	-6.2207	16.4221	0.83766	0.0:1.0:0.0:0.0	.	242	Q9NPF4	OSGEP_HUMAN	I	43;242;60;60;43	ENSP00000451784:V43I;ENSP00000206542:V242I;ENSP00000451548:V60I;ENSP00000450464:V60I;ENSP00000451787:V43I	ENSP00000206542:V242I	V	-	1	0	OSGEP	19985972	1.000000	0.71417	0.999000	0.59377	0.499000	0.33736	7.292000	0.78731	2.141000	0.66446	0.455000	0.32223	GTA		TCGA-IB-7651-01A-11D-2154-08	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	1	0	0	58	535	0	133	1	9.912391e-01	6	63	0	133	2		0	0	0	0	0	2	1	1	59	524	0	131	2								-17.711230	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.880000	1.000000	1.000000	0.990911	0.990000	1	9.900000e-01	1
TMEM55B	90809	broad.mit.edu	37	14	20928928	20928928	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20928928G>A	ENST00000250489.4	-	2	505	c.219C>T	c.(217-219)agC>agT	p.S73S	TMEM55B_ENST00000398020.4_Silent_p.S80S|TMEM55B_ENST00000554028.1_5'Flank			Q86T03	TM55B_HUMAN	transmembrane protein 55B			11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)		CACTGTCCGGGCTAGTTAAGG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000250489.4	1	1	hg19	CCDS9551.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	0	0	0	15	596	0	149	1	9.339552e-01	9	177	0	149	2		0	0	0	0	0	2	1	9.998644e-01	15	591	0	148	2								-3.007564	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.290000	0.160000	0.450000	0.290000	0.303264	0.290000	0	2.200000e-01	3.700000e-01
PNP	4860	broad.mit.edu	37	14	20940628	20940628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20940628G>A	ENST00000361505.5	+	2	319	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase			10					AACTTTCCCCGAAGTACAGGT	0.468000																								0							SO:0001583	missense			ENST00000361505.5	0	1	hg19	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623376	0.28889	.	.	ENSG00000198805	ENST00000553418;ENST00000361505;ENST00000553591	T;D;D	0.87103	-0.99;-2.21;-2.21	5.54	-10.7	0.00240	Nucleoside phosphorylase domain (1);	0.798013	0.12104	N	0.499173	T	0.54029	0.1833	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.04013	0.0;0.001;0.001	T	0.56980	-0.7889	10	0.09843	T	0.71	0.7706	8.7381	0.34541	0.3584:0.0:0.4603:0.1813	.	58;58;58	Q8N7G1;G3V2H3;P00491	.;.;PNPH_HUMAN	Q	58;58;97	ENSP00000450663:R58Q;ENSP00000354532:R58Q;ENSP00000452421:R97Q	ENSP00000354532:R58Q	R	+	2	0	PNP	20010468	0.000000	0.05858	0.022000	0.16811	0.689000	0.40095	-0.715000	0.04997	-2.479000	0.00524	-2.290000	0.00267	CGA		TCGA-IB-7651-01A-11D-2154-08	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	1	0	0	13	170	0	54	1	9.999299e-01	28	206	0	54	2		0	0	0	0	0	2	1	9.995639e-01	13	168	0	53	2								-6.064157	1	1	121412	4	35	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.830000	0.470000	1.000000	1.000000	0.823752	0.830000	0	6.300000e-01	1
RNASE11	122651	broad.mit.edu	37	14	21052116	21052116	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21052116C>A	ENST00000610205.1	-	3	701	c.518G>T	c.(517-519)aGt>aTt	p.S173I	RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I|RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)			21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)		TGAGGTAACACTATGGTATTG	0.448000																								0							SO:0001583	missense			ENST00000610205.1	1	1	hg19	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103399	0.56291	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503	T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.06	3.17	0.36434	Ribonuclease A, domain (3);	0.766368	0.12270	N	0.483906	T	0.72606	0.3481	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.60541	0.876	T	0.60209	-0.7308	10	0.56958	D	0.05	-12.3081	7.8189	0.29276	0.0:0.8873:0.0:0.1127	.	173	Q8TAA1	RNS11_HUMAN	I	173	ENSP00000338288:S173I;ENSP00000451318:S173I;ENSP00000451563:S173I;ENSP00000381093:S173I;ENSP00000381092:S173I;ENSP00000395210:S173I;ENSP00000401398:S173I;ENSP00000451839:S173I	ENSP00000338288:S173I	S	-	2	0	RNASE11	20121956	0.041000	0.20044	0.005000	0.12908	0.226000	0.24999	1.381000	0.34362	1.297000	0.44761	0.511000	0.50034	AGT		TCGA-IB-7651-01A-11D-2154-08	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	1	0	0	23	258	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	9.999995e-01	23	256	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.950000	0.630000	1.000000	1.000000	0.911253	0.950000	1	7.800000e-01	1
EDDM3A	10876	broad.mit.edu	37	14	21215860	21215860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21215860C>T	ENST00000326842.2	+	2	248	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A			6					TTACTTAAGTCCAAGTCGAGA	0.393000																								0							SO:0001583	missense			ENST00000326842.2	1	1	hg19	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	C	7.082	0.570464	0.13560	.	.	ENSG00000181562	ENST00000326842	T	0.44881	0.91	2.46	-0.08	0.13708	Ribonuclease A, domain (2);	1.089430	0.07136	N	0.846540	T	0.30135	0.0755	L	0.38531	1.155	0.09310	N	1	B	0.28233	0.204	B	0.32724	0.151	T	0.30475	-0.9977	10	0.21540	T	0.41	.	3.3642	0.07198	0.304:0.542:0.0:0.154	.	41	Q14507	EP3A_HUMAN	S	41	ENSP00000315098:P41S	ENSP00000315098:P41S	P	+	1	0	EDDM3A	20285700	0.000000	0.05858	0.036000	0.18154	0.306000	0.27790	-0.629000	0.05508	-0.231000	0.09825	0.313000	0.20887	CCA		TCGA-IB-7651-01A-11D-2154-08	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3	1	0	1	80	389	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	79	382	0	85	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNASE13	440163	broad.mit.edu	37	14	21502136	21502136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21502136C>A	ENST00000382951.3	-	2	449	c.312G>T	c.(310-312)caG>caT	p.Q104H	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)			12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)		GGAGGGAATCCTGGGTGAGTG	0.498000																								0							SO:0001583	missense			ENST00000382951.3	1	1	hg19	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050194	0.19827	.	.	ENSG00000206150	ENST00000382951	T	0.73258	-0.73	5.42	3.32	0.38043	Ribonuclease A, domain (3);	1.234980	0.05590	N	0.574488	T	0.53012	0.1770	N	0.12182	0.205	0.09310	N	1	B	0.19073	0.033	B	0.25405	0.06	T	0.41106	-0.9527	10	0.33940	T	0.23	-46.6539	5.426	0.16425	0.0:0.6805:0.208:0.1115	.	104	Q5GAN3	RNS13_HUMAN	H	104	ENSP00000372410:Q104H	ENSP00000372410:Q104H	Q	-	3	2	RNASE13	20571976	0.000000	0.05858	0.026000	0.17262	0.004000	0.04260	0.439000	0.21575	2.545000	0.85829	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1	1	0	0	52	498	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1	50	484	0	114	2								-2.619824	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.840000	1.000000	1.000000	0.983527	0.990000	1	9.600000e-01	1
ZNF219	51222	broad.mit.edu	37	14	21561402	21561402	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21561402C>T	ENST00000360947.3	-	3	465	c.54G>A	c.(52-54)ccG>ccA	p.P18P	ZNF219_ENST00000421093.2_Silent_p.P18P|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Silent_p.P18P|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219			8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)		CGTCGAAAGCCGGCGGCGACG	0.647000											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000360947.3	1	1	hg19	CCDS9568.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2	1	0	1	30	108	0	26	1	9.923887e-01	12	19	0	26	2		0	0	0	0	0	2	1	1	30	104	0	26	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HNRNPC	3183	broad.mit.edu	37	14	21702191	21702191	+	Silent	SNP	G	G	A	rs117138992	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21702191G>A	ENST00000320084.7	-	2	401	c.162C>T	c.(160-162)ttC>ttT	p.F54F	HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000430246.2_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)			9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)		CATACTGAACGAAGGCAAAGC	0.443000													NSCLC(108;607 2244 12726 38757)											0							SO:0001819	synonymous_variant			ENST00000320084.7	1	1	hg19	CCDS41915.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1	1	0	0	144	549	0	104	1	1	717	1003	0	104	2		0	0	0	0	0	2	1	1	141	538	0	103	2								-3.552399	1	1	121338	2	32	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPGRIP1	57096	broad.mit.edu	37	14	21788264	21788264	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21788264T>G	ENST00000400017.2	+	11	1395	c.1395T>G	c.(1393-1395)atT>atG	p.I465M	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I465M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1			39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)		CAGCCACAATTTCCCAACCTC	0.458000																								0							SO:0001583	missense			ENST00000400017.2	1	1	hg19	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170421	0.21621	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.76060	-0.16;-0.94;-0.99;-0.99;-0.48	4.68	-2.0	0.07433	.	1.272670	0.04951	N	0.460368	T	0.64864	0.2637	L	0.54323	1.7	0.09310	N	0.999995	B;P;B	0.38250	0.015;0.624;0.306	B;B;B	0.38954	0.023;0.286;0.11	T	0.51710	-0.8671	10	0.35671	T	0.21	2.5688	0.4158	0.00448	0.1926:0.1991:0.2835:0.3248	.	107;81;465	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	M	438;438;465;465;107;132	ENSP00000450445:I438M;ENSP00000451219:I438M;ENSP00000382895:I465M;ENSP00000206660:I465M;ENSP00000372391:I107M	ENSP00000206660:I465M	I	+	3	3	RPGRIP1	20858104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.230000	0.09083	-0.325000	0.08577	-0.256000	0.11100	ATT		TCGA-IB-7651-01A-11D-2154-08	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	1	0	1	36	136	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1	36	123	0	28	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUPT16H	11198	broad.mit.edu	37	14	21830444	21830444	+	Nonsense_Mutation	SNP	G	G	A	rs143235888	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21830444G>A	ENST00000216297.2	-	15	2043	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)			27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)		AAGTTGATTCGCAAGTAAGTA	0.398000																								0							SO:0001587	stop_gained			ENST00000216297.2	0	1	hg19	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	41	8.835193	0.98972	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8971	9.2709	0.37670	0.0:0.1376:0.5956:0.2667	.	.	.	.	X	569	.	ENSP00000216297:R569X	R	-	1	2	SUPT16H	20900284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.346000	0.52190	1.400000	0.46741	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2	1	0	1	51	190	0	38	1	1	4	137	0	38	2		0	0	0	0	0	2	1	1	51	185	0	37	2								-3.834526	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD8	57680	broad.mit.edu	37	14	21859667	21859667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21859667C>T	ENST00000557364.1	-	36	7283	c.7020G>A	c.(7018-7020)tgG>tgA	p.W2340*	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.W2340*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8			85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)		GACCCTGTAACCACATCTCCA	0.512000																								0							SO:0001587	stop_gained			ENST00000557364.1	0	1	hg19	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	49	15.257496	0.99828	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6396	18.1527	0.89679	0.0:1.0:0.0:0.0	.	.	.	.	X	2061;2340;2060;2340	.	ENSP00000262707:W2060X	W	-	3	0	CHD8	20929507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.949000	0.75971	2.819000	0.97034	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1	22	110	0	43	1	1	29	154	0	43	2		0	0	0	0	0	2	1	9.999993e-01	22	109	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999832	0.990000	1	9.900000e-01	1
CHD8	57680	broad.mit.edu	37	14	21861744	21861744	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21861744G>A	ENST00000557364.1	-	32	6473	c.6210C>T	c.(6208-6210)gaC>gaT	p.D2070D	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Silent_p.D1791D|CHD8_ENST00000399982.2_Silent_p.D2070D|CHD8_ENST00000555962.1_5'Flank			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8			85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)		CCAGCTCAGAGTCCGAATCAT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000557364.1	0	1	hg19	CCDS53885.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	0	0	0	11	87	0	25	1	9.997663e-01	41	89	0	25	2		0	0	0	0	0	2	1	9.985771e-01	11	86	0	25	2								-18.247320	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.700000	1.000000	1.000000	0.972754	0.990000	1	9.600000e-01	1
CHD8	57680	broad.mit.edu	37	14	21863231	21863231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21863231C>T	ENST00000557364.1	-	30	5493	c.5230G>A	c.(5230-5232)Gcc>Acc	p.A1744T	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T|CHD8_ENST00000399982.2_Missense_Mutation_p.A1744T|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8			85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)		GCTGTTAGGGCAGAGCCCGGA	0.522000																								0							SO:0001583	missense			ENST00000557364.1	1	1	hg19	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432580	0.62844	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.79554	-1.28;-1.28;-1.28	6.07	6.07	0.98685	.	0.059716	0.64402	D	0.000002	T	0.76716	0.4026	L	0.39020	1.185	0.50467	D	0.99987	B	0.32128	0.357	B	0.36186	0.219	T	0.71224	-0.4656	10	0.25751	T	0.34	-17.1232	19.4308	0.94765	0.0:1.0:0.0:0.0	.	1465	Q9HCK8-2	.	T	1465;1744;1464;1744	ENSP00000406288:A1465T;ENSP00000382863:A1744T;ENSP00000451601:A1744T	ENSP00000262707:A1464T	A	-	1	0	CHD8	20933071	0.762000	0.28451	1.000000	0.80357	0.995000	0.86356	1.501000	0.35693	2.885000	0.99019	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	0	13	141	0	51	1	9.986706e-01	7	120	0	51	2		0	0	0	0	0	2	1	9.995736e-01	13	139	0	51	2								-18.537990	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.980000	0.560000	1.000000	1.000000	0.906780	0.980000	1	7.500000e-01	1
CHD8	57680	broad.mit.edu	37	14	21868399	21868399	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21868399G>A	ENST00000557364.1	-	24	4901	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	CHD8_ENST00000430710.3_Silent_p.I1267I|CHD8_ENST00000399982.2_Silent_p.I1546I|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8			85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)		CTGCCTTATGGATATCAAAAG	0.403000																								0							SO:0001819	synonymous_variant			ENST00000557364.1	1	1	hg19	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063266	0.08388	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.21	2.41	0.29592	.	.	.	.	.	T	0.51736	0.1692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	-9.7636	4.8474	0.13521	0.1622:0.0:0.5391:0.2987	.	.	.	.	S	780	.	.	P	-	1	0	CHD8	20938239	0.028000	0.19301	1.000000	0.80357	0.921000	0.55340	-0.831000	0.04405	0.353000	0.24079	-0.745000	0.03516	CCA		TCGA-IB-7651-01A-11D-2154-08	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1	67	252	0	52	1	1	14	91	0	52	2		0	0	0	0	0	2	1	1	67	246	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD8	57680	broad.mit.edu	37	14	21869119	21869119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21869119G>A	ENST00000557364.1	-	22	4548	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W|CHD8_ENST00000399982.2_Missense_Mutation_p.R1429W|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8			85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)		GAGCGTGGCCGCTCATCATCC	0.498000																								0							SO:0001583	missense			ENST00000557364.1	1	1	hg19	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.915889|2.915889	0.52546|0.52546	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.86097	.|-2.07;-2.07;-2.07	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|0.076903	.|0.56097	.|D	.|0.000033	D|D	0.85708|0.85708	0.5759|0.5759	N|N	0.22421|0.22421	0.69|0.69	0.48975|0.48975	D|D	0.999736|0.999736	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.71184	.|0.872;0.972	D|D	0.86944|0.86944	0.2081|0.2081	5|10	.|0.87932	.|D	.|0	-12.8282|-12.8282	11.6568|11.6568	0.51324|0.51324	0.0:0.0:0.6781:0.3219|0.0:0.0:0.6781:0.3219	.|.	.|1429;1150	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	V|W	654|1150;1429;1149;1429	.|ENSP00000406288:R1150W;ENSP00000382863:R1429W;ENSP00000451601:R1429W	.|ENSP00000262707:R1149W	A|R	-|-	2|1	0|2	CHD8|CHD8	20938959|20938959	0.907000|0.907000	0.30839|0.30839	0.999000|0.999000	0.59377|0.59377	0.670000|0.670000	0.39368|0.39368	3.463000|3.463000	0.53050|0.53050	1.312000|1.312000	0.45043|0.45043	0.655000|0.655000	0.94253|0.94253	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1	72	281	0	61	1	9.999996e-01	15	71	0	61	2		0	0	0	0	0	2	1	1	72	277	0	61	2								-3.534421	1	1	120918	2	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD8	57680	broad.mit.edu	37	14	21894391	21894391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21894391G>A	ENST00000557364.1	-	5	1875	c.1612C>T	c.(1612-1614)Cct>Tct	p.P538S	CHD8_ENST00000399982.2_Missense_Mutation_p.P538S|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8			85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)		CCCACTACAGGAGTGATGGTG	0.353000																								0							SO:0001583	missense			ENST00000557364.1	0	1	hg19	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874985	0.51695	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88818	-2.4;-2.43;-2.43	5.58	5.58	0.84498	.	0.060955	0.64402	D	0.000002	D	0.86322	0.5905	N	0.19112	0.55	0.50632	D	0.999885	P	0.50443	0.935	P	0.52881	0.712	T	0.82647	-0.0354	10	0.10636	T	0.68	-11.8128	18.349	0.90331	0.0:0.0:1.0:0.0	.	259	Q9HCK8-2	.	S	259;538;258;538	ENSP00000406288:P259S;ENSP00000382863:P538S;ENSP00000451601:P538S	ENSP00000262707:P258S	P	-	1	0	CHD8	20964231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.625000	0.88918	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	0	8	72	0	9	1	9.698937e-01	25	34	0	9	2		0	0	0	0	0	2	1	9.906174e-01	8	72	0	9	2								-14.090450	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.560000	1.000000	1.000000	0.937842	0.990000	1	8.200000e-01	1
CHD8	57680	broad.mit.edu	37	14	21899168	21899168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21899168C>T	ENST00000557364.1	-	2	898	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CHD8_ENST00000399982.2_Missense_Mutation_p.R212Q|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8			85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)		AACACCTGGTCGAAGGGGTGT	0.572000																								0							SO:0001583	missense			ENST00000557364.1	1	1	hg19	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315742	0.81469	.	.	ENSG00000100888	ENST00000399982;ENST00000557364	D;D	0.90004	-2.6;-2.6	5.86	5.86	0.93980	.	0.150379	0.28230	U	0.016120	D	0.85915	0.5808	N	0.24115	0.695	0.36061	D	0.841445	.	.	.	.	.	.	D	0.83981	0.0332	8	0.13470	T	0.59	-4.9624	18.9562	0.92659	0.0:1.0:0.0:0.0	.	.	.	.	Q	212	ENSP00000382863:R212Q;ENSP00000451601:R212Q	ENSP00000382863:R212Q	R	-	2	0	CHD8	20969008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.901000	0.63259	2.775000	0.95449	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	1	0	1	21	125	0	33	1	9.575894e-01	9	25	0	33	2		0	0	0	0	0	2	1	9.999984e-01	21	123	0	33	2								-20.000000	1	1	119012	3	31	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999049	0.990000	1	9.900000e-01	1
RAB2B	84932	broad.mit.edu	37	14	21931868	21931868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21931868G>A	ENST00000397762.1	-	6	521	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family			6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)		ATAAGTCCATGCTCCCTAGCA	0.413000													Melanoma(131;1007 1750 28652 34486 42672)											0							SO:0001583	missense			ENST00000397762.1	1	1	hg19	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131159	0.94473	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79653	-1.29	6.01	6.01	0.97437	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.74183	0.3683	N	0.25825	0.765	0.80722	D	1	B;B;P	0.39311	0.075;0.408;0.667	B;B;B	0.38056	0.19;0.264;0.258	T	0.77133	-0.2700	10	0.87932	D	0	.	19.2856	0.94067	0.0:0.0:1.0:0.0	.	141;95;76	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	Y	141	ENSP00000380869:H141Y	ENSP00000302005:H141Y	H	-	1	0	RAB2B	21001708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.113000	0.94321	2.850000	0.98022	0.655000	0.94253	CAT		TCGA-IB-7651-01A-11D-2154-08	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4	1	0	1	90	370	0	86	1	9.999895e-01	15	55	0	86	2		0	0	0	0	0	2	1	1	89	363	0	86	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOX4	9878	broad.mit.edu	37	14	21961134	21961134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21961134G>T	ENST00000405508.1	+	8	1635	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H|TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4			18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)		AGATGCCACAGCCCCCGACTC	0.567000																								0							SO:0001583	missense			ENST00000405508.1	1	1	hg19	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069594	0.20147	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.15139	2.45;2.45;2.47	4.96	1.09	0.20402	.	0.672239	0.14521	N	0.314432	T	0.11495	0.0280	N	0.08118	0	0.37097	D	0.899727	D;D	0.56521	0.976;0.976	P;P	0.47528	0.549;0.549	T	0.22871	-1.0204	10	0.38643	T	0.18	.	12.175	0.54180	0.2895:0.0:0.7105:0.0	.	430;453	B4DPY8;O94842	.;TOX4_HUMAN	H	453;453;430;381	ENSP00000385102:Q453H;ENSP00000262709:Q453H;ENSP00000393080:Q430H	ENSP00000262709:Q453H	Q	+	3	2	TOX4	21030974	0.998000	0.40836	0.999000	0.59377	0.154000	0.21943	0.605000	0.24179	0.106000	0.17784	-1.644000	0.00765	CAG		TCGA-IB-7651-01A-11D-2154-08	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	0	0	1	171	777	0	238	1	1	118	251	0	238	2		0	0	0	0	0	2	1	1	163	753	0	235	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOX4	9878	broad.mit.edu	37	14	21964723	21964723	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21964723G>A	ENST00000405508.1	+	10	2101	c.1825G>A	c.(1825-1827)Gta>Ata	p.V609I	TOX4_ENST00000448790.2_Missense_Mutation_p.V586I|TOX4_ENST00000262709.3_Missense_Mutation_p.V609I			O94842	TOX4_HUMAN	TOX high mobility group box family member 4			18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)		CTTGGCCTGGGTAGCCTCTAG	0.388000																								0							SO:0001583	missense			ENST00000405508.1	1	0	hg19	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977518	0.18812	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.14766	2.48;2.48;2.48	5.01	4.11	0.48088	.	0.304156	0.31809	N	0.007021	T	0.10551	0.0258	L	0.34521	1.04	0.29776	N	0.834394	B;B	0.20459	0.045;0.045	B;B	0.21360	0.034;0.034	T	0.07195	-1.0785	10	0.40728	T	0.16	.	8.5995	0.33736	0.0:0.1674:0.6592:0.1734	.	586;609	B4DPY8;O94842	.;TOX4_HUMAN	I	609;609;586;537	ENSP00000385102:V609I;ENSP00000262709:V609I;ENSP00000393080:V586I	ENSP00000262709:V609I	V	+	1	0	TOX4	21034563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.104000	0.41815	1.447000	0.47661	0.650000	0.86243	GTA		TCGA-IB-7651-01A-11D-2154-08	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	1	0	1	79	334	0	66	1	1	82	173	0	66	2		0	0	0	0	0	2	1	1	75	325	0	67	2								-1.481256	0	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
METTL3	56339	broad.mit.edu	37	14	21971467	21971467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21971467G>A	ENST00000298717.4	-	3	723	c.572C>T	c.(571-573)gCc>gTc	p.A191V	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3			20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)		TAACGAACTGGCAAAGGCAGC	0.547000																								0							SO:0001583	missense			ENST00000298717.4	1	1	hg19	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688699	0.29962	.	.	ENSG00000165819	ENST00000298717	T	0.31247	1.5	5.36	4.48	0.54585	.	0.495398	0.23868	N	0.043762	T	0.14700	0.0355	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.21546	0.006;0.035;0.002	T	0.08827	-1.0703	10	0.12103	T	0.63	.	9.3888	0.38361	0.163:0.0:0.837:0.0	.	191;191;191	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	V	191	ENSP00000298717:A191V	ENSP00000298717:A191V	A	-	2	0	METTL3	21041307	1.000000	0.71417	0.980000	0.43619	0.667000	0.39255	7.944000	0.87722	1.511000	0.48818	-0.251000	0.11542	GCC		TCGA-IB-7651-01A-11D-2154-08	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	1	0	1	62	278	0	63	1	9.994828e-01	15	38	0	63	2		0	0	0	0	0	2	1	1	61	271	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SALL2	6297	broad.mit.edu	37	14	21991201	21991201	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21991201G>A	ENST00000327430.3	-	2	2955	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.S750S	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2			43	all_cancers(95;0.000662)				CCAAGGTCACGCTGGTGGCTT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000327430.3	1	1	hg19	CCDS32045.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.028	-1.352014	0.01256	.	.	ENSG00000165821	ENST00000546363	.	.	.	4.79	2.79	0.32731	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.23254	N	0.998031	.	.	.	.	.	.	T	0.16778	-1.0391	4	.	.	.	-14.6793	5.2257	0.15393	0.1157:0.2131:0.6712:0.0	.	.	.	.	V	746	.	.	A	-	2	0	SALL2	21061041	0.007000	0.16637	0.593000	0.28771	0.007000	0.05969	-0.145000	0.10265	1.232000	0.43678	-0.257000	0.10917	GCG		TCGA-IB-7651-01A-11D-2154-08	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	1	0	1	67	225	0	51	0	6.466670e-01	1	8	0	51	2		0	0	0	0	0	2	1	1	64	219	0	51	2								-20.000000	1	1	121412	5	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SALL2	6297	broad.mit.edu	37	14	21993139	21993139	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21993139G>T	ENST00000327430.3	-	2	1017	c.723C>A	c.(721-723)ctC>ctA	p.L241L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2			43	all_cancers(95;0.000662)				TGGGGCTGAAGAGGGGTAGTA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000327430.3	1	1	hg19	CCDS32045.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	1	0	1	32	214	0	47	1	5.672141e-01	4	10	0	47	2		0	0	0	0	0	2	1	1	32	204	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999401	0.990000	1	9.900000e-01	1
OR10G3	26533	broad.mit.edu	37	14	22038099	22038099	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22038099G>A	ENST00000303532.1	-	1	776	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3			15	all_cancers(95;0.000987)				GCCTCAGGTAGATGAAGGCAC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000303532.1	1	1	hg19	CCDS32046.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1	1	0	0	110	504	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	109	491	0	106	2								-3.365836	1	1	121412	1	31	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10G2	26534	broad.mit.edu	37	14	22102553	22102553	+	Missense_Mutation	SNP	A	A	C	rs144770758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22102553A>C	ENST00000542433.1	-	1	543	c.446T>G	c.(445-447)cTt>cGt	p.L149R		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2			22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)			TCCAGCCACAAGGACTGTGCA	0.557000																								0							SO:0001583	missense			ENST00000542433.1	1	1	hg19	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693504	0.48202	.	.	ENSG00000255582	ENST00000542433	T	0.44881	0.91	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	N	0.001617	T	0.70962	0.3284	H	0.95260	3.645	0.28420	N	0.917786	D	0.71674	0.998	D	0.72982	0.979	T	0.69397	-0.5156	10	0.87932	D	0	-7.5525	10.2529	0.43379	1.0:0.0:0.0:0.0	.	149	Q8NGC3	O10G2_HUMAN	R	149	ENSP00000445383:L149R	ENSP00000445383:L149R	L	-	2	0	OR10G2	21172393	0.325000	0.24660	0.998000	0.56505	0.961000	0.63080	3.861000	0.56002	1.525000	0.49052	0.374000	0.22700	CTT		TCGA-IB-7651-01A-11D-2154-08	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1	1	0	0	29	127	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999999e-01	24	105	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
SLC7A7	9056	broad.mit.edu	37	14	23243280	23243280	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23243280G>A	ENST00000397532.3	-	9	1816	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000554517.1_Silent_p.L165L|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7			20	all_cancers(95;8.44e-05)				ACAGCCACCAGGAAGATGGTG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000397532.3	1	1	hg19	CCDS9574.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3	1	0	1	54	291	0	96	1	1	11	217	0	96	2		0	0	0	0	0	2	1	1	53	281	0	96	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC7A7	9056	broad.mit.edu	37	14	23282281	23282281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282281C>T	ENST00000397532.3	-	2	852	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC7A7_ENST00000555702.1_Silent_p.E109E|SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7			20	all_cancers(95;8.44e-05)				CTCCAAAGGCCTCCAGGATAT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000397532.3	1	1	hg19	CCDS9574.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3	1	0	1	138	599	0	160	1	1	38	164	0	160	2		0	0	0	0	0	2	1	1	135	585	0	159	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC7A7	9056	broad.mit.edu	37	14	23282626	23282626	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282626C>A	ENST00000397532.3	-	0	507				SLC7A7_ENST00000555702.1_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397529.2_De_novo_Start_OutOfFrame|SLC7A7_ENST00000285850.7_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397528.4_De_novo_Start_OutOfFrame|SLC7A7_ENST00000554517.1_Intron			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7			20	all_cancers(95;8.44e-05)				AGAGGAAACCCTTCACCAGCT	0.542000																								0											ENST00000397532.3	0	1	hg19	CCDS9574.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3	0	0	0	10	266	0	70	1	9.757492e-01	3	168	0	70	2		0	0	0	0	0	2	1	9.967980e-01	10	262	0	70	2								-2.848933	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.430000	0.220000	0.730000	0.410000	0.455113	0.430000	0	3.100000e-01	5.800000e-01
MMP14	4323	broad.mit.edu	37	14	23306057	23306057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306057C>A	ENST00000311852.6	+	1	292	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)			20	all_cancers(95;9.47e-05)			Marimastat(DB00786)	CCCCCGTTGTCTCCTGCTCCC	0.726000											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000311852.6	1	1	hg19	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604229	0.46423	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.59224	2.4;0.28	4.75	4.75	0.60458	.	0.533597	0.20310	N	0.094848	T	0.37517	0.1006	N	0.08118	0	0.31485	N	0.666702	B	0.24823	0.112	B	0.23018	0.043	T	0.42310	-0.9459	10	0.40728	T	0.16	.	13.4433	0.61125	0.0:1.0:0.0:0.0	.	11	P50281	MMP14_HUMAN	I	11	ENSP00000308208:L11I;ENSP00000450323:L11I	ENSP00000308208:L11I	L	+	1	0	MMP14	22375897	0.813000	0.29090	0.998000	0.56505	0.991000	0.79684	1.956000	0.40382	2.630000	0.89119	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	1	0	1	45	146	0	38	1	1	65	618	0	38	2		0	0	0	0	0	2	1	1	45	143	0	36	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP14	4323	broad.mit.edu	37	14	23306078	23306078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306078C>T	ENST00000311852.6	+	1	313	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)			20	all_cancers(95;9.47e-05)			Marimastat(DB00786)	CCTGCTCACGCTCGGCACCGC	0.731000											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000311852.6	1	1	hg19	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378692	0.42207	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.63417	2.34;-0.04	4.55	4.55	0.56014	.	2.767510	0.01059	N	0.004607	T	0.60483	0.2272	N	0.08118	0	0.33990	D	0.649053	D	0.58970	0.984	P	0.59595	0.86	T	0.59511	-0.7441	10	0.09590	T	0.72	.	13.0028	0.58685	0.0:1.0:0.0:0.0	.	18	P50281	MMP14_HUMAN	F	18	ENSP00000308208:L18F;ENSP00000450323:L18F	ENSP00000308208:L18F	L	+	1	0	MMP14	22375918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.020000	0.49643	2.524000	0.85096	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	1	0	1	23	193	0	41	1	1	34	846	0	41	2		0	0	0	0	0	2	1	9.999995e-01	23	190	0	39	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.820000	1.000000	1.000000	0.986123	0.990000	1	9.900000e-01	1
MMP14	4323	broad.mit.edu	37	14	23311685	23311685	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23311685C>T	ENST00000311852.6	+	4	708	c.447C>T	c.(445-447)cgC>cgT	p.R149R	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)			20	all_cancers(95;9.47e-05)			Marimastat(DB00786)	AGGCGTTCCGCGTGTGGGAGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000311852.6	1	1	hg19	CCDS9577.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	1	0	1	26	134	0	33	1	1	91	1173	0	33	2		0	0	0	0	0	2	1	9.999999e-01	26	129	0	33	2								-20.000000	1	1	121412	1	26	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999917	0.990000	1	9.900000e-01	1
LRP10	26020	broad.mit.edu	37	14	23345402	23345402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23345402G>A	ENST00000359591.4	+	5	1936	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	LRP10_ENST00000546834.1_Silent_p.T415T	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10			32	all_cancers(95;4.69e-05)				TGTATGAGACGTGGGTGTGCG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000359591.4	1	1	hg19	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	A	5.109	0.205658	0.09704	0.0	1.16E-4	ENSG00000197324	ENST00000551466	.	.	.	5.97	-11.9	0.00025	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49504	-0.8933	4	.	.	.	-8.3507	5.5399	0.17031	0.4097:0.2297:0.2983:0.0623	.	.	.	.	M	317	.	.	V	+	1	0	LRP10	22415242	0.000000	0.05858	0.232000	0.24009	0.871000	0.50021	-4.299000	0.00257	-2.310000	0.00650	-2.160000	0.00327	GTG		TCGA-IB-7651-01A-11D-2154-08	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3	1	0	0	34	674	1	134	1	9.995793e-01	123	1377	1	134	33		0	0	0	0	0	2	1	9.905411e-01	34	661	1	134	18								-3.315509	1	1	121412	2	39	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.560000	0.390000	0.760000	0.550000	0.573405	0.560000	0	4.700000e-01	6.600000e-01
REM2	161253	broad.mit.edu	37	14	23353936	23353936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23353936C>T	ENST00000267396.4	+	2	280	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	REM2_ENST00000536884.1_Missense_Mutation_p.R53W	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2			5	all_cancers(95;4.69e-05)				AGAGTTGGACCGGAGCGGGTT	0.547000																								0							SO:0001583	missense			ENST00000267396.4	1	1	hg19	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028516	0.35797	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68765	-0.35;1.21	5.82	3.98	0.46160	.	0.626172	0.16062	N	0.231414	T	0.51550	0.1681	N	0.19112	0.55	0.29543	N	0.851932	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.001	T	0.52102	-0.8620	10	0.87932	D	0	.	10.6536	0.45663	0.1317:0.7978:0.0:0.0705	.	53;53	B7Z5P1;Q8IYK8	.;REM2_HUMAN	W	53	ENSP00000267396:R53W;ENSP00000442774:R53W	ENSP00000267396:R53W	R	+	1	2	REM2	22423776	0.197000	0.23362	0.944000	0.38274	0.268000	0.26511	0.611000	0.24268	0.785000	0.33685	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	1	0	1	56	259	0	46	1	3.279567e-02	2	0	0	46	2		0	0	0	0	0	2	1	1	55	256	0	46	2								-3.049309	1	1	120884	4	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REM2	161253	broad.mit.edu	37	14	23354048	23354048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354048C>T	ENST00000267396.4	+	2	392	c.269C>T	c.(268-270)cCt>cTt	p.P90L	REM2_ENST00000536884.1_Missense_Mutation_p.P90L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2			5	all_cancers(95;4.69e-05)				GACTGGCCACCTCAGGCCTCA	0.632000																								0							SO:0001583	missense			ENST00000267396.4	1	1	hg19	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508339	0.64410	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68181	-0.31;1.21	5.88	5.88	0.94601	.	0.213901	0.39909	N	0.001222	T	0.64461	0.2600	L	0.29908	0.895	0.58432	D	0.999997	P;B	0.45827	0.867;0.164	P;B	0.48030	0.564;0.06	T	0.65240	-0.6216	10	0.49607	T	0.09	.	17.1447	0.86763	0.0:1.0:0.0:0.0	.	90;90	B7Z5P1;Q8IYK8	.;REM2_HUMAN	L	90	ENSP00000267396:P90L;ENSP00000442774:P90L	ENSP00000267396:P90L	P	+	2	0	REM2	22423888	0.085000	0.21516	1.000000	0.80357	0.991000	0.79684	1.317000	0.33631	2.778000	0.95560	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	1	0	0	32	295	0	64	0	1.033435e-02	0	2	0	64	2		0	0	0	0	0	2	1	1	32	292	0	63	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.800000	1.000000	1.000000	0.980444	0.990000	1	9.600000e-01	1
RBM23	55147	broad.mit.edu	37	14	23375564	23375564	+	Missense_Mutation	SNP	G	G	A	rs72681969	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23375564G>A	ENST00000359890.3	-	5	436	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.R65W|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.R65W	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23			10	all_cancers(95;4.69e-05)				TACCGATCCCGATCTCGACTA	0.512000																								0							SO:0001583	missense			ENST00000359890.3	1	0	hg19	CCDS41921.1	44	0.020146520146520148	3	0.006097560975609756	8	0.022099447513812154	0	0.0	33	0.04353562005277045	G	21.6	4.170582	0.78452	0.010669	0.037729	ENSG00000100461	ENST00000359890;ENST00000399922;ENST00000346528;ENST00000554256;ENST00000557549;ENST00000555676;ENST00000557571;ENST00000556862;ENST00000557464	T;T;T	0.79940	-1.32;3.27;3.34	4.83	4.83	0.62350	.	0.213810	0.30302	N	0.009932	T	0.57257	0.2041	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.997	P;P;P;P	0.59643	0.861;0.738;0.738;0.551	T	0.76686	-0.2868	10	0.87932	D	0	-6.2082	15.1845	0.72989	0.0:0.0:1.0:0.0	.	81;65;65;81	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	W	81;65;65;81;65;65;65;81;65	ENSP00000352956:R81W;ENSP00000382806:R65W;ENSP00000339220:R65W	ENSP00000305783:R81W	R	-	1	2	RBM23	22445404	0.988000	0.35896	0.978000	0.43139	0.610000	0.37248	2.301000	0.43628	2.398000	0.81561	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3	0	0	1	35	288	0	66	1	1	43	250	0	66	2		0	0	0	0	0	2	1	1	35	278	0	66	2								-2.966416	1	1	120970	3391	67	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.900000	1.000000	1.000000	0.994438	0.990000	1	9.900000e-01	1
PSMB5	5693	broad.mit.edu	37	14	23502760	23502760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23502760C>T	ENST00000361611.6	-	2	585	c.322G>A	c.(322-324)Gca>Aca	p.A108T	PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T|PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|AL132780.1_ENST00000385031.1_RNA	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	p.A108T(1)		7	all_cancers(95;3.3e-05)			Bortezomib(DB00188)|Carfilzomib(DB08889)	CAATCCGCTGCGCCCCCAGCC	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000361611.6	1	1	hg19	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749066	0.89753	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000425762	T;T;T	0.36699	1.24;1.24;1.24	4.88	4.88	0.63580	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.99590	4.645	0.80722	D	1	P;D	0.76494	0.92;0.999	B;P	0.62014	0.109;0.897	D	0.87643	0.2523	10	0.87932	D	0	-1.9348	16.8115	0.85722	0.0:1.0:0.0:0.0	.	108;108	P28074-2;P28074	.;PSB5_HUMAN	T	108;108;5	ENSP00000355325:A108T;ENSP00000452424:A108T;ENSP00000395206:A5T	ENSP00000334973:A108T	A	-	1	0	PSMB5	22572600	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.476000	0.60216	2.237000	0.73441	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	1	0	1	37	286	0	67	1	1	288	577	0	67	2		0	0	0	0	0	2	1	1	37	273	0	66	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.997672	0.990000	1	9.900000e-01	1
PSMB5	5693	broad.mit.edu	37	14	23504175	23504175	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23504175C>A	ENST00000361611.6	-	0	179				PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_5'Flank|PSMB5_ENST00000493471.2_5'Flank|AL132780.1_ENST00000385031.1_RNA	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5			7	all_cancers(95;3.3e-05)			Bortezomib(DB00188)|Carfilzomib(DB08889)	GCTTCACTTCCTATTAAATCT	0.522000																								0											ENST00000361611.6	0	1	hg19	CCDS9584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	0	0	0	11	28	0	10	1	3.377581e-01	3	1	0	10	2		0	0	0	0	0	2	1	9.991288e-01	11	28	0	10	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999649	0.990000	1	9.900000e-01	1
ACIN1	22985	broad.mit.edu	37	14	23528517	23528517	+	Missense_Mutation	SNP	C	C	A	rs140209940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528517C>A	ENST00000262710.1	-	19	4193	c.3866G>T	c.(3865-3867)aGg>aTg	p.R1289M	ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1			37	all_cancers(95;1.36e-05)				ctctctctccctgtccctctc	0.612000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000262710.1	1	1	hg19	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042506	0.55003	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.29	4.29	0.51040	.	0.000000	0.37483	N	0.002076	T	0.63558	0.2521	N	0.24115	0.695	0.45161	D	0.998177	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.982;0.982	D;D;D;P;P	0.74348	0.983;0.962;0.962;0.629;0.629	T	0.69057	-0.5246	10	0.72032	D	0.01	-8.6477	16.0217	0.80503	0.0:1.0:0.0:0.0	.	1276;1289;1249;562;531	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	M	530;562;531;1289;1249;531;1276	ENSP00000451138:R530M;ENSP00000345541:R562M;ENSP00000350073:R531M;ENSP00000262710:R1289M;ENSP00000405677:R1249M;ENSP00000380502:R531M;ENSP00000451328:R1276M	ENSP00000262710:R1289M	R	-	2	0	ACIN1	22598357	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	1.905000	0.39878	2.379000	0.81126	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	1	0	1	60	248	0	46	1	1	91	124	0	46	2		0	0	0	0	0	2	1	1	59	234	0	46	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACIN1	22985	broad.mit.edu	37	14	23528572	23528572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528572G>A	ENST00000262710.1	-	19	4138	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1			37	all_cancers(95;1.36e-05)				TGTCGGTTCCGTTCCCGCTCG	0.632000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000262710.1	1	1	hg19	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608797	0.28623	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.14	3.24	0.37175	.	0.000000	0.37393	N	0.002103	T	0.42675	0.1213	N	0.24115	0.695	0.42351	D	0.992378	D;D;D;P;P	0.64830	0.994;0.99;0.975;0.912;0.912	P;B;B;B;B	0.47102	0.537;0.336;0.336;0.082;0.082	T	0.46498	-0.9187	10	0.87932	D	0	-8.9988	10.8207	0.46604	0.0:0.0:0.8102:0.1898	.	1258;1271;1231;544;513	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	512;544;513;1271;1231;513;1258	ENSP00000451138:R512W;ENSP00000345541:R544W;ENSP00000350073:R513W;ENSP00000262710:R1271W;ENSP00000405677:R1231W;ENSP00000380502:R513W;ENSP00000451328:R1258W	ENSP00000262710:R1271W	R	-	1	2	ACIN1	22598412	0.998000	0.40836	1.000000	0.80357	0.207000	0.24258	1.283000	0.33237	1.074000	0.40909	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	1	0	1	48	234	0	34	1	1	97	273	0	34	2		0	0	0	0	0	2	1	1	46	221	0	34	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEBPE	1053	broad.mit.edu	37	14	23587999	23587999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23587999G>A	ENST00000206513.5	-	1	826	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon			9	all_cancers(95;4.6e-05)				AGGCCCCAGCGCCTTCCTGTC	0.701000													NSCLC(63;1230 1818 14565 22565)											0							SO:0001583	missense			ENST00000206513.5	1	1	hg19	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137234	0.21123	.	.	ENSG00000092067	ENST00000206513	T	0.32023	1.47	4.51	2.57	0.30868	.	0.398028	0.23991	N	0.042566	T	0.13372	0.0324	N	0.08118	0	0.22253	N	0.999259	B	0.13145	0.007	B	0.08055	0.003	T	0.26189	-1.0110	10	0.12766	T	0.61	-9.1206	9.9605	0.41693	0.0907:0.1529:0.7564:0.0	.	101	Q15744	CEBPE_HUMAN	V	101	ENSP00000206513:A101V	ENSP00000206513:A101V	A	-	2	0	CEBPE	22657839	0.999000	0.42202	0.806000	0.32338	0.994000	0.84299	2.808000	0.47963	1.094000	0.41399	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	1	0	1	38	172	0	27	0	0	0	1	0	27	2		0	0	0	0	0	2	1	1	36	170	0	27	2								-20.000000	1	1	121402	1	26	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLC7A8	23428	broad.mit.edu	37	14	23609809	23609809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23609809T>G	ENST00000316902.7	-	5	1384	c.659A>C	c.(658-660)aAg>aCg	p.K220T	SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8			24	all_cancers(95;4.6e-05)			L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAATGCATTCTTTGGCTCCAG	0.567000																								0							SO:0001583	missense			ENST00000316902.7	1	1	hg19	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301603	0.40694	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000469263;ENST00000453702;ENST00000529705;ENST00000206514	D;D;D;D	0.89270	-2.49;-2.49;-2.22;-2.49	4.81	4.81	0.61882	Amino acid permease domain (1);	0.116516	0.64402	D	0.000020	T	0.76227	0.3958	N	0.04090	-0.28	0.80722	D	1	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.18263	0.021;0.006;0.005	T	0.71220	-0.4657	10	0.22706	T	0.39	.	13.6703	0.62420	0.0:0.0:0.0:1.0	.	115;220;220	B4DKT4;E9PLV9;Q9UHI5	.;.;LAT2_HUMAN	T	220;17;220;17;115;17	ENSP00000320378:K220T;ENSP00000435114:K220T;ENSP00000391577:K17T;ENSP00000434345:K115T	ENSP00000206514:K17T	K	-	2	0	SLC7A8	22679649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.870000	0.39529	1.946000	0.56461	0.460000	0.39030	AAG		TCGA-IB-7651-01A-11D-2154-08	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3	0	0	1	145	626	0	134	1	1	41	164	0	134	2		0	0	0	0	0	2	1	1	142	616	0	133	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC22A17	51310	broad.mit.edu	37	14	23821156	23821156	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821156C>T	ENST00000206544.8	-	1	604		c.e1+1		SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000354772.3_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17			15	all_cancers(95;7.12e-06)				GGCCGCCTCACCTGGCCGATG	0.692000																								0							SO:0001630	splice_region_variant			ENST00000206544.8	1	1	hg19	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270684	0.59540	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7391	0.46143	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A17	22890996	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.987000	0.29603	1.867000	0.54127	0.462000	0.41574	.		TCGA-IB-7651-01A-11D-2154-08	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	1	0	0	31	123	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	30	121	0	28	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLC22A17	51310	broad.mit.edu	37	14	23821267	23821267	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821267T>C	ENST00000206544.8	-	1	493	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A|SLC22A17_ENST00000354772.3_Missense_Mutation_p.T53A|SLC22A17_ENST00000397260.3_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17			15	all_cancers(95;7.12e-06)				TCGGTACTGGTGGCGACACGG	0.662000																								0							SO:0001583	missense			ENST00000206544.8	0	1	hg19	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	T	5.359	0.251576	0.10185	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.54675	0.56;0.56;0.56	2.86	2.86	0.33363	Major facilitator superfamily domain (1);	0.421812	0.19588	U	0.110689	T	0.38746	0.1052	N	0.08118	0	0.29215	N	0.874315	D;P;P	0.56287	0.975;0.732;0.613	P;B;B	0.58130	0.833;0.124;0.058	T	0.22243	-1.0222	10	0.08179	T	0.78	-17.3251	7.5483	0.27781	0.0:0.0:0.0:1.0	.	53;53;53	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	A	53	ENSP00000346824:T53A;ENSP00000206544:T53A;ENSP00000380437:T53A	ENSP00000206544:T53A	T	-	1	0	SLC22A17	22891107	0.862000	0.29867	0.996000	0.52242	0.985000	0.73830	0.351000	0.20096	1.557000	0.49525	0.379000	0.24179	ACC		TCGA-IB-7651-01A-11D-2154-08	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	1	0	0	22	83	0	9	0	7.873477e-01	0	13	0	9	2		0	0	0	0	0	2	1	9.999985e-01	18	77	0	8	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
SLC22A17	51310	broad.mit.edu	37	14	23821354	23821354	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821354C>T	ENST00000206544.8	-	1	406	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T|SLC22A17_ENST00000354772.3_Missense_Mutation_p.A24T|SLC22A17_ENST00000397260.3_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17			15	all_cancers(95;7.12e-06)				CAGCCAGAGGCATTAGGGGGG	0.706000																								0							SO:0001583	missense			ENST00000206544.8	0	1	hg19	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	9.849	1.193186	0.22037	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.68025	-0.3;-0.26;-0.26	3.72	2.82	0.32997	.	0.209202	0.30890	U	0.008668	T	0.34629	0.0904	N	0.08118	0	0.23708	N	0.997058	B;P;P	0.48694	0.0;0.914;0.86	B;B;B	0.35182	0.002;0.197;0.129	T	0.20907	-1.0261	10	0.22109	T	0.4	-2.203	5.8303	0.18577	0.0:0.7573:0.0:0.2427	.	24;24;24	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	T	24	ENSP00000346824:A24T;ENSP00000206544:A24T;ENSP00000380437:A24T	ENSP00000206544:A24T	A	-	1	0	SLC22A17	22891194	0.000000	0.05858	0.865000	0.33974	0.097000	0.18754	0.050000	0.14120	0.768000	0.33290	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	1	0	0	7	63	0	11	0	3.739356e-02	0	3	0	11	2		0	0	0	0	0	2	1	9.824867e-01	7	63	0	10	2								-13.546140	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.530000	1.000000	1.000000	0.931198	0.990000	1	8.000000e-01	1
EFS	10278	broad.mit.edu	37	14	23828965	23828965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23828965G>A	ENST00000216733.3	-	4	1329	c.722C>T	c.(721-723)gCa>gTa	p.A241V	EFS_ENST00000351354.3_Missense_Mutation_p.A148V|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate			16	all_cancers(95;7.12e-06)				CTCCCCGTCTGCCAGCAGTTC	0.657000																								0							SO:0001583	missense			ENST00000216733.3	1	1	hg19	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.967102	0.34754	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.58940	0.3;0.93	4.62	0.251	0.15540	.	1.158660	0.06436	N	0.724990	T	0.45135	0.1327	L	0.44542	1.39	0.09310	N	1	B;B	0.31548	0.328;0.043	B;B	0.30495	0.116;0.025	T	0.32955	-0.9887	10	0.34782	T	0.22	0.304	3.6496	0.08198	0.0898:0.1478:0.4939:0.2685	.	148;241	O43281-2;O43281	.;EFS_HUMAN	V	241;148	ENSP00000216733:A241V;ENSP00000340607:A148V	ENSP00000216733:A241V	A	-	2	0	EFS	22898805	0.014000	0.17966	0.011000	0.14972	0.929000	0.56500	0.208000	0.17415	0.156000	0.19299	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2	1	0	0	119	451	0	106	0	9.659929e-01	0	23	0	106	2		0	0	0	0	0	2	1	1	117	443	0	103	2								-3.860661	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH6	4624	broad.mit.edu	37	14	23855256	23855256	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23855256G>T	ENST00000356287.3	-	33	5073	c.5044C>A	c.(5044-5046)Ctg>Atg	p.L1682M	MYH6_ENST00000405093.3_Missense_Mutation_p.L1682M|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha			119	all_cancers(95;2.54e-05)				GCCTGCAGCAGGTTGTTGCGC	0.642000																								0							SO:0001583	missense			ENST00000356287.3	1	1	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	19.72	3.879769	0.72294	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82803	-1.65;-1.65	4.2	4.2	0.49525	Myosin tail (1);	.	.	.	.	D	0.90010	0.6881	M	0.82823	2.61	0.47245	D	0.999362	D	0.61080	0.989	D	0.71656	0.974	D	0.90520	0.4488	9	0.59425	D	0.04	.	10.5855	0.45280	0.09:0.0:0.91:0.0	.	1682	P13533	MYH6_HUMAN	M	1682	ENSP00000386041:L1682M;ENSP00000348634:L1682M	ENSP00000348634:L1682M	L	-	1	2	MYH6	22925096	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.145000	0.58065	2.048000	0.60808	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	0	14	306	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	9.997320e-01	14	299	0	73	2								-3.346896	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.510000	0.290000	0.810000	0.510000	0.537081	0.510000	0	3.900000e-01	6.700000e-01
MYH6	4624	broad.mit.edu	37	14	23856842	23856842	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23856842C>T	ENST00000356287.3	-	31	4575	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	MYH6_ENST00000405093.3_Missense_Mutation_p.E1516K|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha			119	all_cancers(95;2.54e-05)				CCTAGCTGCTCAGTAAGGTCC	0.587000																								0							SO:0001583	missense			ENST00000356287.3	1	1	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	35	5.552207	0.96501	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.79653	-1.29;-1.29	4.62	4.62	0.57501	Myosin tail (1);	.	.	.	.	D	0.90058	0.6895	M	0.90542	3.125	0.80722	D	1	D	0.55800	0.973	P	0.57244	0.816	D	0.92497	0.6005	9	0.72032	D	0.01	.	17.8518	0.88748	0.0:1.0:0.0:0.0	.	1516	P13533	MYH6_HUMAN	K	1516	ENSP00000386041:E1516K;ENSP00000348634:E1516K	ENSP00000348634:E1516K	E	-	1	0	MYH6	22926682	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.632000	0.83247	2.283000	0.76528	0.549000	0.68633	GAG		TCGA-IB-7651-01A-11D-2154-08	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1	67	352	0	89	0	0	0	1	0	89	2		0	0	0	0	0	2	1	1	65	343	0	89	2								-3.327552	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH6	4624	broad.mit.edu	37	14	23857491	23857491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23857491G>A	ENST00000356287.3	-	29	4261	c.4232C>T	c.(4231-4233)gCc>gTc	p.A1411V	MYH6_ENST00000405093.3_Missense_Mutation_p.A1411V|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha			119	all_cancers(95;2.54e-05)				GGAGCACTTGGCATTAACAGC	0.597000																								0							SO:0001583	missense			ENST00000356287.3	1	1	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.907586	0.92107	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78816	-1.21;-1.21	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.87822	0.6274	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89631	0.3855	9	0.87932	D	0	.	17.8925	0.88877	0.0:0.0:1.0:0.0	.	1411	P13533	MYH6_HUMAN	V	1411	ENSP00000386041:A1411V;ENSP00000348634:A1411V	ENSP00000348634:A1411V	A	-	2	0	MYH6	22927331	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.441000	0.97557	2.292000	0.77174	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1	123	441	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	119	432	0	120	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH6	4624	broad.mit.edu	37	14	23873579	23873579	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23873579T>G	ENST00000356287.3	-	7	690	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	MYH6_ENST00000405093.3_Missense_Mutation_p.I221L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha			119	all_cancers(95;2.54e-05)				GCCTGGATGATCTGGTCCTCC	0.612000																								0							SO:0001583	missense			ENST00000356287.3	1	1	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.194954	0.78902	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88046	-2.33;-2.33	3.21	3.21	0.36854	Myosin head, motor domain (2);	.	.	.	.	D	0.92570	0.7640	M	0.66297	2.02	0.52501	D	0.99995	P;P	0.35107	0.484;0.484	D;D	0.65010	0.931;0.931	D	0.92625	0.6111	9	0.72032	D	0.01	.	11.6217	0.51121	0.0:0.0:0.0:1.0	.	221;221	D9YZU2;P13533	.;MYH6_HUMAN	L	221	ENSP00000386041:I221L;ENSP00000348634:I221L	ENSP00000348634:I221L	I	-	1	0	MYH6	22943419	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.573000	0.82421	1.467000	0.48044	0.247000	0.18012	ATC		TCGA-IB-7651-01A-11D-2154-08	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1	106	532	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	105	523	0	131	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH7	4625	broad.mit.edu	37	14	23886420	23886420	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23886420G>T	ENST00000355349.3	-	32	4623	c.4461C>A	c.(4459-4461)gcC>gcA	p.A1487A	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta			137	all_cancers(95;2.54e-05)				ACTCCTCATAGGCGTTCTTGA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000355349.3	1	1	hg19	CCDS9601.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	1	147	754	0	214		0	0	0	0	214	2		0	0	0	0	0	2	1	1	144	738	0	212	2								-3.319910	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH7	4625	broad.mit.edu	37	14	23894565	23894565	+	Silent	SNP	G	G	A	rs139882431	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23894565G>A	ENST00000355349.3	-	21	2511	c.2349C>T	c.(2347-2349)cgC>cgT	p.R783R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta			137	all_cancers(95;2.54e-05)				GCGTGATGATGCGGCTCAGCC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000355349.3	0	1	hg19	CCDS9601.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	0	0	0	8	325	0	80		0	0	0	0	80	2		0	0	0	0	0	2	0	9.091006e-02	8	318	1	78	15								-8.331489	1	0	121412	41	48	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.290000	0.130000	0.520000	0.280000	0.310004	0.290000	0	2.000000e-01	4.100000e-01
MYH7	4625	broad.mit.edu	37	14	23895007	23895007	+	Missense_Mutation	SNP	G	G	A	rs121913644	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895007G>A	ENST00000355349.3	-	20	2345	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta			137	all_cancers(95;2.54e-05)				AGGGATGGCCGCTGGGTTCAG	0.552000																								0		GRCh37	CM011799	MYH7	M	rs121913644	SO:0001583	missense			ENST00000355349.3	1	1	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983202	0.53827	2.27E-4	2.33E-4	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87103	-2.21	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.86527	0.5954	M	0.69248	2.105	0.40086	D	0.976191	B	0.12013	0.005	B	0.19946	0.027	D	0.84935	0.0862	9	0.66056	D	0.02	.	15.4006	0.74838	0.0:0.139:0.861:0.0	.	728	P12883	MYH7_HUMAN	V	728	ENSP00000347507:A728V	ENSP00000347507:A728V	A	-	2	0	MYH7	22964847	0.004000	0.15560	0.988000	0.46212	0.917000	0.54804	1.385000	0.34408	2.531000	0.85337	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	1	61	283	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	54	275	0	61	2								-20.000000	1	1	121412	19	43	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH7	4625	broad.mit.edu	37	14	23895227	23895227	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895227C>T	ENST00000355349.3	-	19	2270	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	p.R703H(1)		137	all_cancers(95;2.54e-05)				CCTGCAGATGCGGATGCCCTC	0.602000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000355349.3	1	1	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695949	0.96802	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90732	-2.72	5.03	5.03	0.67393	Myosin head, motor domain (2);	.	.	.	.	D	0.97198	0.9084	H	0.98612	4.28	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	D	0.98737	1.0715	9	0.87932	D	0	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	703	P12883	MYH7_HUMAN	H	703	ENSP00000347507:R703H	ENSP00000347507:R703H	R	-	2	0	MYH7	22965067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.612000	0.88384	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	1	27	187	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	27	182	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998349	0.990000	1	9.900000e-01	1
AP1G2	8906	broad.mit.edu	37	14	24033058	24033058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033058G>T	ENST00000308724.5	-	11	1854	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit			28	all_cancers(95;0.000251)				CTTAGTTCCAGGGCTCTCCTG	0.592000																								0							SO:0001583	missense			ENST00000308724.5	1	1	hg19	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.921950	0.17982	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.39997	1.05;1.05	4.71	3.82	0.43975	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.33440	0.0863	N	0.25144	0.715	0.53688	D	0.999977	P;P	0.41597	0.605;0.756	B;P	0.48704	0.264;0.587	T	0.06716	-1.0811	10	0.29301	T	0.29	-8.8989	6.1505	0.20308	0.0953:0.0:0.722:0.1827	.	367;222	O75843;Q86V28	AP1G2_HUMAN;.	M	367;367;136;222	ENSP00000312442:L367M;ENSP00000380309:L367M	ENSP00000312442:L367M	L	-	1	2	AP1G2	23102898	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.203000	0.42752	1.180000	0.42898	0.557000	0.71058	CTG		TCGA-IB-7651-01A-11D-2154-08	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	1	0	1	44	282	0	77	1	9.999983e-01	47	83	0	77	2		0	0	0	0	0	2	1	1	43	277	0	75	2								-2.880027	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999931	0.990000	1	9.900000e-01	1
AP1G2	8906	broad.mit.edu	37	14	24033572	24033572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033572C>T	ENST00000308724.5	-	9	1702	c.947G>A	c.(946-948)cGc>cAc	p.R316H	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank|AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit			28	all_cancers(95;0.000251)				GAGTAGGAAGCGACCAAGAAT	0.532000																								0							SO:0001583	missense			ENST00000308724.5	1	1	hg19	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434074	0.83776	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.28454	1.61;1.61	4.38	4.38	0.52667	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	H	0.94886	3.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76868	-0.2800	10	0.87932	D	0	-6.1322	14.4989	0.67707	0.0:1.0:0.0:0.0	.	316;171	O75843;Q86V28	AP1G2_HUMAN;.	H	316;316;85;171	ENSP00000312442:R316H;ENSP00000380309:R316H	ENSP00000312442:R316H	R	-	2	0	AP1G2	23103412	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.751000	0.62169	2.269000	0.75478	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	1	0	1	46	301	0	72	1	9.999989e-01	39	97	0	72	2		0	0	0	0	0	2	1	1	45	291	0	71	2								-19.726910	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999923	0.990000	1	9.900000e-01	1
JPH4	84502	broad.mit.edu	37	14	24040262	24040262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24040262C>T	ENST00000397118.3	-	6	2580	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	JPH4_ENST00000544177.1_Missense_Mutation_p.A225T|JPH4_ENST00000356300.4_Missense_Mutation_p.A560T|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000308724.5_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4			22	all_cancers(95;0.000251)				TCCGTGCCTGCTGGGGCCCTC	0.677000																								0							SO:0001583	missense			ENST00000397118.3	1	1	hg19	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856914	0.71834	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.56611	0.45;0.45;0.91	5.08	4.13	0.48395	.	0.764876	0.10176	U	0.706458	T	0.31765	0.0807	N	0.08118	0	0.09310	N	1	B;B	0.25105	0.118;0.037	B;B	0.23574	0.047;0.013	T	0.05801	-1.0863	10	0.14252	T	0.57	.	12.0487	0.53495	0.0:0.8254:0.1746:0.0	.	225;560	F5H1L9;Q96JJ6	.;JPH4_HUMAN	T	560;560;560;561;225	ENSP00000348648:A560T;ENSP00000380307:A560T;ENSP00000439562:A225T	ENSP00000267407:A561T	A	-	1	0	JPH4	23110102	0.002000	0.14202	0.777000	0.31699	0.900000	0.52787	1.311000	0.33562	2.518000	0.84900	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	1	0	1	128	470	0	77	0	2.047206e-01	0	4	0	77	2		0	0	0	0	0	2	1	1	126	461	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JPH4	84502	broad.mit.edu	37	14	24044904	24044904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24044904C>T	ENST00000397118.3	-	4	2043	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.A381T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4			22	all_cancers(95;0.000251)				CTGGCAGCGGCGATCTCCTGG	0.687000																								0							SO:0001583	missense			ENST00000397118.3	0	1	hg19	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342303	0.41498	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.63744	-0.06;-0.06	4.06	4.06	0.47325	.	0.000000	0.29964	U	0.010742	T	0.76723	0.4027	M	0.71581	2.175	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.80122	-0.1514	10	0.87932	D	0	.	13.7735	0.63039	0.0:1.0:0.0:0.0	.	381;381	A8K396;Q96JJ6	.;JPH4_HUMAN	T	381;381;381;382	ENSP00000348648:A381T;ENSP00000380307:A381T	ENSP00000267407:A382T	A	-	1	0	JPH4	23114744	1.000000	0.71417	0.990000	0.47175	0.010000	0.07245	7.156000	0.77453	2.079000	0.62486	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	1	0	1	16	66	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.998388e-01	13	55	0	9	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999733	0.990000	1	9.900000e-01	1
JPH4	84502	broad.mit.edu	37	14	24045124	24045124	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24045124G>A	ENST00000397118.3	-	4	1823	c.921C>T	c.(919-921)ggC>ggT	p.G307G	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Silent_p.G307G	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4			22	all_cancers(95;0.000251)				CCAGCCACTCGCCCTCGTAGC	0.741000																								0							SO:0001819	synonymous_variant			ENST00000397118.3	0	1	hg19	CCDS9603.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	1	0	0	17	109	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999736e-01	17	107	0	12	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.950000	1.000000	1.000000	0.996526	0.990000	1	9.900000e-01	1
DHRS4L2	317749	broad.mit.edu	37	14	24470603	24470603	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24470603C>A	ENST00000335125.6	+	6	668	c.542C>A	c.(541-543)cCt>cAt	p.P181H	DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H|DHRS4L2_ENST00000543805.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2			10					GGCTTCAGTCCTTACAATGTC	0.478000																								0							SO:0001583	missense			ENST00000335125.6	1	1	hg19	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	7.332	0.619136	0.14129	.	.	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000537912;ENST00000382755	D;T;D	0.87256	-2.23;0.69;-2.23	2.85	0.915	0.19366	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	N	0.10733	0.035	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.76575	0.98;0.948;0.988	T	0.79205	-0.1899	10	0.52906	T	0.07	.	6.6805	0.23117	0.0:0.7399:0.0:0.2601	.	106;179;179	F6TD35;D3YTE6;Q6PKH6	.;.;DR4L2_HUMAN	H	119;181;106;179	ENSP00000334801:P181H;ENSP00000439942:P106H;ENSP00000372203:P179H	ENSP00000334801:P181H	P	+	2	0	DHRS4L2	23540443	0.998000	0.40836	0.148000	0.22405	0.107000	0.19398	4.550000	0.60733	0.091000	0.17302	0.194000	0.17425	CCT		TCGA-IB-7651-01A-11D-2154-08	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4	1	0	0	118	632	0	155	0	3.060281e-01	1	6	0	155	2		0	0	0	0	0	2	1	1	104	582	0	184	2								-3.143355	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC16B	90668	broad.mit.edu	37	14	24523715	24523715	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24523715C>T	ENST00000342740.5	+	5	511	c.357C>T	c.(355-357)ggC>ggT	p.G119G	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B			52					TCTGCCCTGGCCCTGGGTGAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000342740.5	1	1	hg19	CCDS32054.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	1	0	0	40	228	0	61	0	2.353424e-02	1	1	0	61	2		0	0	0	0	0	2	1	1	40	223	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
LRRC16B	90668	broad.mit.edu	37	14	24527939	24527939	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24527939C>A	ENST00000342740.5	+	18	1597	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B			52					GAGCTGTCACCTGTGTAGGCA	0.637000											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000342740.5	1	1	hg19	CCDS32054.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	1	0	1	44	171	0	47	0	2.786751e-01	1	4	0	47	2		0	0	0	0	0	2	1	1	41	168	0	47	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCK2	5106	broad.mit.edu	37	14	24566204	24566204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24566204C>T	ENST00000216780.4	+	2	401	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000560657.1_3'UTR|NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)			18					CACTGGCATTCGAGATTTTGT	0.577000																								0							SO:0001587	stop_gained			ENST00000216780.4	0	1	hg19	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000904	0.54254	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.52	4.58	0.56647	.	0.179793	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0504	12.1787	0.54199	0.2581:0.7419:0.0:0.0	.	.	.	.	X	45	.	ENSP00000216780:R45X	R	+	1	2	PCK2	23636044	0.569000	0.26643	0.955000	0.39395	0.004000	0.04260	0.894000	0.28350	2.746000	0.94184	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	1	0	0	89	374	0	98	1	1	20	116	0	98	2		0	0	0	0	0	2	1	1	89	370	0	98	2								-20.000000	1	1	121412	2	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCK2	5106	broad.mit.edu	37	14	24567497	24567497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24567497C>T	ENST00000216780.4	+	3	629	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)			18					GGACACGGTACAACTCCCGCC	0.627000																								0							SO:0001587	stop_gained			ENST00000216780.4	0	1	hg19	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478142	0.96291	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.3507	16.1997	0.82060	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000216780:Q121X	Q	+	1	0	PCK2	23637337	1.000000	0.71417	0.992000	0.48379	0.478000	0.33099	7.487000	0.81328	2.419000	0.82065	0.462000	0.41574	CAA		TCGA-IB-7651-01A-11D-2154-08	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	1	0	1	37	169	0	41	1	9.999956e-01	20	71	0	41	2		0	0	0	0	0	2	1	1	35	164	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PCK2	5106	broad.mit.edu	37	14	24568398	24568398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24568398G>A	ENST00000216780.4	+	5	1073	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	PCK2_ENST00000545054.2_Missense_Mutation_p.A135T|PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T|PCK2_ENST00000559250.1_Missense_Mutation_p.A281T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)			18					CCTACGCATCGCCTCTCGGCT	0.672000																								0							SO:0001583	missense			ENST00000216780.4	1	1	hg19	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	36	5.854427	0.97030	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.21191	2.02;2.02;2.02	5.79	5.79	0.91817	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;0.996	T	0.32798	-0.9893	10	0.87932	D	0	-19.0125	17.534	0.87822	0.0:0.0:1.0:0.0	.	135;269;269;269	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	T	269;269;135	ENSP00000216780:A269T;ENSP00000380171:A269T;ENSP00000441826:A135T	ENSP00000216780:A269T	A	+	1	0	PCK2	23638238	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.750000	0.94351	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	1	0	1	27	271	0	48	1	9.998335e-01	23	115	0	48	2		0	0	0	0	0	2	1	1	27	268	0	48	2								-20.000000	1	1	121410	7	39	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.720000	1.000000	1.000000	0.956578	0.990000	1	8.700000e-01	1
PSME1	5720	broad.mit.edu	37	14	24607694	24607694	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24607694G>A	ENST00000206451.6	+	10	699	c.594G>A	c.(592-594)cgG>cgA	p.R198R	PSME1_ENST00000559123.1_Silent_p.R39R|PSME1_ENST00000561435.1_Silent_p.R198R|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000382708.3_Silent_p.R198R	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)			11					GTGATTATCGGCAGCTGGTGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000206451.6	0	1	hg19	CCDS9612.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	0	0	0	14	686	0	134	1	1	52	2289	0	134	2		0	0	0	0	0	2	1	9.997201e-01	14	673	0	133	2								-2.872152	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.230000	0.130000	0.380000	0.230000	0.248524	0.230000	0	1.800000e-01	3.100000e-01
RNF31	55072	broad.mit.edu	37	14	24617572	24617572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24617572G>A	ENST00000324103.6	+	3	765	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000471700.2_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31			39					GGTTGCTACAGTCACACTGGA	0.557000																								0							SO:0001583	missense			ENST00000324103.6	1	1	hg19	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220579	0.79464	.	.	ENSG00000092098	ENST00000324103	T	0.55588	0.51	5.31	5.31	0.75309	PUB domain (1);	0.000000	0.64402	D	0.000001	T	0.49474	0.1559	L	0.50333	1.59	0.80722	D	1	B	0.24186	0.099	B	0.31614	0.133	T	0.47812	-0.9088	10	0.49607	T	0.09	-20.5992	11.9072	0.52719	0.0827:0.0:0.9173:0.0	.	149	Q96EP0	RNF31_HUMAN	I	149	ENSP00000315112:V149I	ENSP00000315112:V149I	V	+	1	0	RNF31	23687412	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	6.548000	0.73896	2.779000	0.95612	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	1	0	1	33	130	0	35	1	9.999999e-01	27	86	0	35	2		0	0	0	0	0	2	1	1	32	128	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RNF31	55072	broad.mit.edu	37	14	24619877	24619877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619877C>T	ENST00000324103.6	+	8	1588	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	RNF31_ENST00000559275.1_Missense_Mutation_p.S272L|RNF31_ENST00000382687.3_Missense_Mutation_p.S272L|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31			39					TTCTGCAACTCGAGCCCTGGC	0.557000																								0							SO:0001583	missense			ENST00000324103.6	1	1	hg19	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412775	0.62511	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.42131	0.98;0.98	5.87	4.99	0.66335	Zinc finger, RanBP2-type (2);	0.331771	0.28414	N	0.015430	T	0.45458	0.1343	L	0.52364	1.645	0.33845	D	0.631964	D;D;D	0.67145	0.969;0.992;0.996	B;P;P	0.51945	0.296;0.487;0.685	T	0.62525	-0.6836	10	0.72032	D	0.01	-2.5388	7.735	0.28808	0.1614:0.7565:0.0:0.0821	.	238;423;272	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	L	423;272	ENSP00000315112:S423L;ENSP00000372134:S272L	ENSP00000315112:S423L	S	+	2	0	RNF31	23689717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	1.489000	0.48450	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	1	0	0	88	828	0	174	1	9.996496e-01	5	103	0	174	2		0	0	0	0	0	2	1	1	88	815	0	173	2								-3.017764	1	0	120932	1	42	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.910000	1.000000	1.000000	0.993586	0.990000	1	9.900000e-01	1
RNF31	55072	broad.mit.edu	37	14	24619958	24619958	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619958G>T	ENST00000324103.6	+	8	1669	c.1349G>T	c.(1348-1350)aGc>aTc	p.S450I	RNF31_ENST00000559275.1_Missense_Mutation_p.S299I|RNF31_ENST00000382687.3_Missense_Mutation_p.S299I|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31			39					CCCTATGCCAGCTCTTTGGAA	0.612000																								0							SO:0001583	missense			ENST00000324103.6	1	1	hg19	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102621	0.37145	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.48836	0.8;0.8	5.87	3.0	0.34707	.	0.740640	0.13790	N	0.362573	T	0.41650	0.1168	L	0.56769	1.78	0.32017	N	0.601277	B;P;P	0.38078	0.346;0.483;0.617	B;B;B	0.37144	0.039;0.086;0.242	T	0.50800	-0.8785	10	0.45353	T	0.12	-1.4673	7.1867	0.25803	0.1577:0.1516:0.6907:0.0	.	265;450;299	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	I	450;299	ENSP00000315112:S450I;ENSP00000372134:S299I	ENSP00000315112:S450I	S	+	2	0	RNF31	23689798	0.817000	0.29147	0.997000	0.53966	0.916000	0.54674	0.234000	0.17930	0.792000	0.33850	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	1	0	1	57	616	0	109	1	9.991794e-01	12	102	0	109	2		0	0	0	0	0	2	1	1	56	592	0	109	2								-14.856320	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.980000	0.760000	1.000000	1.000000	0.949579	0.980000	1	8.600000e-01	1
IRF9	10379	broad.mit.edu	37	14	24635385	24635385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24635385G>A	ENST00000396864.3	+	9	1449	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	IRF9_ENST00000557894.1_Missense_Mutation_p.S328N|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	p.A388T(1)		16					GCAGCAGGCAGCCATTCTGTC	0.527000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000396864.3	1	1	hg19	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894696	0.72639	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.94793	-3.52;-3.52	4.8	3.91	0.45181	SMAD domain-like (1);SMAD/FHA domain (1);	0.181219	0.22981	U	0.053301	D	0.94823	0.8328	M	0.61703	1.905	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	D	0.88158	0.2855	10	0.87932	D	0	-14.722	6.2456	0.20815	0.0979:0.1898:0.7124:0.0	.	388	Q00978	IRF9_HUMAN	T	388;204	ENSP00000380073:A388T;ENSP00000313529:A204T	ENSP00000313529:A204T	A	+	1	0	IRF9	23705225	0.335000	0.24748	0.713000	0.30519	0.060000	0.15804	2.962000	0.49176	2.665000	0.90641	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2	1	0	1	30	110	0	46	1	1	240	577	0	46	2		0	0	0	0	0	2	1	1	29	106	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
REC8	9985	broad.mit.edu	37	14	24642111	24642111	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24642111G>A	ENST00000311457.3	+	4	728	c.129G>A	c.(127-129)gaG>gaA	p.E43E	REC8_ENST00000559919.1_Silent_p.E43E			O95072	REC8_HUMAN	REC8 meiotic recombination protein			15					TCCCCAGCGAGGAAATCCTCA	0.647000													NSCLC(139;1764 2537 12868 49041)											0							SO:0001819	synonymous_variant			ENST00000311457.3	1	1	hg19	CCDS41932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	1	0	1	83	339	0	55	0	4.174729e-01	0	7	0	55	2		0	0	0	0	0	2	1	1	79	337	0	52	2								-3.403578	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REC8	9985	broad.mit.edu	37	14	24646361	24646361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646361G>A	ENST00000311457.3	+	9	1235	c.636G>A	c.(634-636)gaG>gaA	p.E212E	REC8_ENST00000559919.1_Silent_p.E212E			O95072	REC8_HUMAN	REC8 meiotic recombination protein			15					GTGAACGGGAGCTCCCAGAGG	0.557000													NSCLC(139;1764 2537 12868 49041)											0							SO:0001819	synonymous_variant			ENST00000311457.3	1	1	hg19	CCDS41932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	1	0	1	61	316	0	74	1	7.245254e-01	2	13	0	74	2		0	0	0	0	0	2	1	1	57	304	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IPO4	79711	broad.mit.edu	37	14	24651000	24651000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24651000G>A	ENST00000354464.6	-	27	3033	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4			33					CGATCATGTCGCTCCCGCGCC	0.612000																								0							SO:0001587	stop_gained			ENST00000354464.6	0	1	hg19	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451090	0.84209	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.97	5.08	0.68730	.	0.224065	0.40908	D	0.000990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.6638	15.4355	0.75143	0.0:0.0:0.8595:0.1405	.	.	.	.	X	953;629	.	ENSP00000346453:R953X	R	-	1	2	IPO4	23720840	0.999000	0.42202	1.000000	0.80357	0.929000	0.56500	1.486000	0.35530	0.873000	0.35799	-0.808000	0.03180	CGA		TCGA-IB-7651-01A-11D-2154-08	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	1	0	1	61	244	0	58	0	9.999973e-01	1	78	0	58	2		0	0	0	0	0	2	1	1	61	239	0	58	2								-3.640082	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IPO4	79711	broad.mit.edu	37	14	24652349	24652349	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24652349C>T	ENST00000354464.6	-	23	2430	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4			33					TAGGATGGCACGACTCGGGCC	0.662000																								0							SO:0001583	missense			ENST00000354464.6	1	1	hg19	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260088	0.23051	0.0	2.36E-4	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.67171	-0.25	5.89	-1.42	0.08913	Armadillo-like helical (1);Armadillo-type fold (2);	0.788870	0.11743	N	0.533853	T	0.37598	0.1009	N	0.08118	0	0.30553	N	0.765211	B;B	0.19445	0.011;0.036	B;B	0.15870	0.006;0.014	T	0.25676	-1.0125	10	0.23891	T	0.37	-2.0618	4.6873	0.12764	0.0:0.2166:0.314:0.4694	.	752;752	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	M	752;428	ENSP00000346453:V752M	ENSP00000346453:V752M	V	-	1	0	IPO4	23722189	0.007000	0.16637	0.862000	0.33874	0.765000	0.43378	-1.611000	0.02062	-0.090000	0.12462	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	1	0	1	70	369	0	105	1	9.999162e-01	34	40	0	105	2		0	0	0	0	0	2	1	1	69	356	0	104	2								-20.000000	1	1	121056	1	40	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TM9SF1	10548	broad.mit.edu	37	14	24658926	24658926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24658926C>T	ENST00000261789.4	-	6	1874	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A715T|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T|RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1			24					AGCAGGATGGCGAAGACAAAG	0.527000																								0							SO:0001583	missense			ENST00000261789.4	1	1	hg19	CCDS9617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.189563|4.189563	0.78789|0.78789	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.43294|0.54866	0.95;0.95;0.95;0.95;0.95|0.55	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44912|0.44912	0.1316|0.1316	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	B|.	0.32203|.	0.36|.	B|.	0.26416|.	0.069|.	T|T	0.54282|0.54282	-0.8317|-0.8317	10|7	0.59425|0.87932	D|D	0.04|0	-13.9922|-13.9922	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	506|.	O15321|.	TM9S1_HUMAN|.	T|H	506;489;715;419;715|73	ENSP00000261789:A506T;ENSP00000432997:A489T;ENSP00000451949:A715T;ENSP00000434387:A419T;ENSP00000433967:A715T|ENSP00000436486:R73H	ENSP00000433967:A715T|ENSP00000436486:R73H	A|R	-|-	1|2	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23728766|23728766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.374000|6.374000	0.73132|0.73132	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CGC		TCGA-IB-7651-01A-11D-2154-08	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	1	0	1	71	377	0	106	1	1	79	272	0	106	2		0	0	0	0	0	2	1	1	71	368	0	104	2								-3.148666	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHMP4A	29082	broad.mit.edu	37	14	24679567	24679567	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679567C>T	ENST00000609024.1	-	5	645	c.597G>A	c.(595-597)ctG>ctA	p.L199L	CHMP4A_ENST00000347519.6_Silent_p.L242L|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Silent_p.L199L|TM9SF1_ENST00000556387.1_Silent_p.L199L|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_Silent_p.L94L			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A			9					GCCCTGCCGGCAGATGAGTAG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000609024.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.553	0.470224	0.12461	.	.	ENSG00000254505	ENST00000548308	.	.	.	5.46	-0.181	0.13291	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	-7.8791	3.446	0.07481	0.4183:0.3136:0.0:0.2681	.	.	.	.	T	182	.	.	A	-	1	0	AL096870.1	23749407	0.975000	0.34042	0.463000	0.27130	0.239000	0.25481	0.120000	0.15647	0.271000	0.22005	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	0	0	0	12	740	0	172	1	9.667520e-01	12	343	0	172	2		0	0	0	0	0	2	1	9.989182e-01	11	716	0	171	2								-2.694925	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.190000	0.100000	0.310000	0.190000	0.200634	0.190000	0	1.400000e-01	2.500000e-01
CHMP4A	29082	broad.mit.edu	37	14	24679614	24679614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679614C>A	ENST00000609024.1	-	5	598	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.E184*|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_Nonsense_Mutation_p.E79*			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A			9					GGTTCTTCTTCCTTGTCGCCC	0.517000																								0							SO:0001587	stop_gained			ENST00000609024.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245092|3.245092	0.59103|0.59103	.|.	.|.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505|ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011|ENST00000548308	.|.	.|.	.|.	5.46|5.46	3.62|3.62	0.41486|0.41486	.|.	0.313069|.	0.22848|.	N|.	0.054881|.	.|T	.|0.50360	.|0.1611	.|.	.|.	.|.	0.58432|0.58432	A|A	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59658	.|-0.7413	.|3	0.09590|.	T|.	0.72|.	-7.7942|-7.7942	8.6606|8.6606	0.34091|0.34091	0.0:0.8202:0.0:0.1798|0.0:0.8202:0.0:0.1798	.|.	.|.	.|.	.|.	X|V	184;184;227;194|166	.|.	ENSP00000324205:E227X|.	E|G	-|-	1|2	0|0	TM9SF1;AL096870.1;RP11-468E2.1|AL096870.1	23749454|23749454	0.017000|0.017000	0.18338|0.18338	0.983000|0.983000	0.44433|0.44433	0.596000|0.596000	0.36781|0.36781	1.319000|1.319000	0.33655|0.33655	1.298000|1.298000	0.44778|0.44778	0.561000|0.561000	0.74099|0.74099	GAA|GGA		TCGA-IB-7651-01A-11D-2154-08	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	0	0	0	30	937	0	218	1	9.999541e-01	6	464	0	218	2		0	0	0	0	0	2	1	1	28	919	0	218	2								-2.908312	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.360000	0.240000	0.500000	0.360000	0.372836	0.360000	0	3.000000e-01	4.400000e-01
MDP1	145553	broad.mit.edu	37	14	24683242	24683242	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683242T>C	ENST00000288087.7	-	6	630	c.519A>G	c.(517-519)ccA>ccG	p.P173P	MDP1_ENST00000396833.2_3'UTR|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1			7					AGGCCTCAAATGGGCTCTCCT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000288087.7	1	1	hg19	CCDS9620.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	0	0	0	13	332	0	80	1	8.765545e-01	3	94	0	80	2		0	0	0	0	0	2	1	9.995305e-01	13	329	0	80	2								-13.977560	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.440000	0.250000	0.710000	0.430000	0.465787	0.440000	0	3.300000e-01	5.800000e-01
MDP1	145553	broad.mit.edu	37	14	24683543	24683543	+	Missense_Mutation	SNP	G	G	A	rs2295317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683543G>A	ENST00000288087.7	-	5	487	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	MDP1_ENST00000396833.2_Intron|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_Intron|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1			7					ACAATATTCCGCCTCTCATCA	0.458000																								0							SO:0001583	missense			ENST00000288087.7	1	0	hg19	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149115	0.78001	2.27E-4	1.16E-4	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97404	-4.37;-4.37	5.0	4.1	0.47936	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.27991	U	0.017029	D	0.97914	0.9314	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97380	0.9982	10	0.41790	T	0.15	-13.1301	10.6353	0.45560	0.0:0.0:0.8088:0.1912	.	126	Q86V88	MGDP1_HUMAN	W	126;143	ENSP00000288087:R126W;ENSP00000431482:R143W	ENSP00000288087:R126W	R	-	1	2	MDP1;NEDD8-MDP1	23753383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.475000	0.45162	1.323000	0.45263	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	1	0	0	117	547	0	153	1	1	29	103	0	153	2		0	0	0	0	0	2	1	1	116	535	0	153	2								-20.000000	1	0	121412	7	51	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDP1	145553	broad.mit.edu	37	14	24684946	24684946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24684946C>T	ENST00000288087.7	-	2	206	c.95G>A	c.(94-96)aGc>aAc	p.S32N	MDP1_ENST00000396833.2_Missense_Mutation_p.S32N|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'UTR|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Intron	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1			7					ACCTCACCTGCTCTTATGGAA	0.597000											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000288087.7	1	1	hg19	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364688	0.61513	.	.	ENSG00000213920	ENST00000288087;ENST00000396833	D;D	0.97303	-4.33;-4.33	4.92	4.03	0.46877	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.92021	0.7472	N	0.17872	0.535	0.22601	N	0.998946	B;B;B	0.14012	0.009;0.001;0.002	B;B;B	0.10450	0.005;0.001;0.001	T	0.82544	-0.0404	9	0.17832	T	0.49	.	9.3942	0.38392	0.0:0.9028:0.0:0.0972	.	32;32;32	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	N	32	ENSP00000288087:S32N;ENSP00000380045:S32N	ENSP00000288087:S32N	S	-	2	0	MDP1	23754786	0.577000	0.26708	0.994000	0.49952	0.992000	0.81027	0.390000	0.20768	1.432000	0.47375	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	1	0	1	155	847	0	212	1	9.999998e-01	27	90	0	212	2		0	0	0	0	0	2	1	1	148	832	0	209	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TINF2	26277	broad.mit.edu	37	14	24710962	24710962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24710962C>A	ENST00000267415.7	-	3	659	c.318G>T	c.(316-318)aaG>aaT	p.K106N	TINF2_ENST00000559019.1_Intron|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N|TINF2_ENST00000558566.1_Missense_Mutation_p.K106N|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000399423.4_Missense_Mutation_p.K106N	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2			7					CCTCCAAAATCTTCCTCAGAT	0.493000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome															0							SO:0001583	missense	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	ENST00000267415.7	1	1	hg19	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406045	0.62288	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	T;T;T	0.45276	0.9;0.9;0.9	5.13	3.31	0.37934	.	0.255699	0.39544	N	0.001336	T	0.54334	0.1852	M	0.66939	2.045	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;P;P	0.63877	0.919;0.801;0.801	T	0.50988	-0.8762	10	0.41790	T	0.15	-9.6111	7.729	0.28775	0.0:0.8111:0.0:0.1889	.	71;106;106	B4DFJ1;Q9BSI4-2;Q9BSI4	.;.;TINF2_HUMAN	N	106;71;106	ENSP00000267415:K106N;ENSP00000442154:K71N;ENSP00000382350:K106N	ENSP00000267415:K106N	K	-	3	2	TINF2	23780802	0.980000	0.34600	0.997000	0.53966	0.767000	0.43475	0.129000	0.15830	0.743000	0.32719	0.491000	0.48974	AAG		TCGA-IB-7651-01A-11D-2154-08	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2	1	0	1	23	96	0	27	1	1	51	171	0	27	2		0	0	0	0	0	2	1	9.999997e-01	23	95	0	26	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
TGM1	7051	broad.mit.edu	37	14	24724683	24724683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24724683C>T	ENST00000206765.6	-	11	1655	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1			24				L-Glutamine(DB00130)	CTTGAAGCTGCCATCATCCTG	0.552000																								0							SO:0001583	missense			ENST00000206765.6	1	1	hg19	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870567	0.91587	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.81996	-1.56;-1.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.66439	2.03	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90846	0.4727	10	0.72032	D	0.01	-31.6259	16.9613	0.86273	0.0:1.0:0.0:0.0	.	511	P22735	TGM1_HUMAN	D	511;69	ENSP00000206765:G511D;ENSP00000439446:G69D	ENSP00000206765:G511D	G	-	2	0	TGM1	23794523	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	2.779000	0.47734	2.602000	0.87976	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	1	0	0	24	280	0	59	0	5.752267e-02	1	4	0	59	2		0	0	0	0	0	2	1	9.999996e-01	24	270	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.920000	0.610000	1.000000	1.000000	0.894119	0.920000	1	7.500000e-01	1
TGM1	7051	broad.mit.edu	37	14	24729006	24729006	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729006C>T	ENST00000206765.6	-	6	1011	c.888G>A	c.(886-888)ggG>ggA	p.G296G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1			24				L-Glutamine(DB00130)	CATCCAGCACCCCGTGGTCAA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000206765.6	0	1	hg19	CCDS9622.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	1	0	0	6	154	0	22	0	2.120730e-03	0	2	0	22	2		0	0	0	0	0	2	1	9.630770e-01	5	151	0	21	2								-8.810765	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.460000	0.190000	0.860000	0.430000	0.489506	0.460000	0	3.000000e-01	6.600000e-01
TGM1	7051	broad.mit.edu	37	14	24729184	24729184	+	Missense_Mutation	SNP	C	C	T	rs150181059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729184C>T	ENST00000206765.6	-	5	961	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1			24				L-Glutamine(DB00130)	ATCTGTGCTTCGGTCCCGTAG	0.572000																								0							SO:0001583	missense			ENST00000206765.6	1	1	hg19	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170292	0.38315	2.27E-4	0.0	ENSG00000092295	ENST00000206765	D	0.88664	-2.41	5.39	5.39	0.77823	.	0.048812	0.85682	D	0.000000	T	0.76176	0.3951	N	0.11870	0.19	0.80722	D	1	D	0.59357	0.985	B	0.39660	0.306	T	0.76041	-0.3104	10	0.10111	T	0.7	-19.3187	13.7621	0.62973	0.0:0.8458:0.1542:0.0	.	280	P22735	TGM1_HUMAN	K	280	ENSP00000206765:E280K	ENSP00000206765:E280K	E	-	1	0	TGM1	23799024	0.001000	0.12720	0.967000	0.41034	0.969000	0.65631	0.709000	0.25734	2.800000	0.96347	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	0	0	0	15	349	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	9.998538e-01	15	340	0	88	2								-3.086653	1	1	121412	6	40	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.480000	0.280000	0.750000	0.480000	0.505067	0.480000	0	3.700000e-01	6.200000e-01
TGM1	7051	broad.mit.edu	37	14	24731070	24731070	+	Missense_Mutation	SNP	G	G	C	rs144651432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24731070G>C	ENST00000206765.6	-	3	462	c.339C>G	c.(337-339)aaC>aaG	p.N113K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1			24				L-Glutamine(DB00130)	AGTCCACACCGTTCACTACTA	0.592000																								0							SO:0001583	missense			ENST00000206765.6	1	1	hg19	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474567	0.12521	.	.	ENSG00000092295	ENST00000206765	D	0.83673	-1.75	5.29	-10.6	0.00265	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.720818	0.13927	N	0.353165	T	0.51126	0.1656	N	0.04880	-0.145	0.26576	N	0.973466	B	0.02656	0.0	B	0.08055	0.003	T	0.49698	-0.8912	10	0.06891	T	0.86	-1.3594	7.4068	0.26995	0.6273:0.1535:0.1418:0.0774	.	113	P22735	TGM1_HUMAN	K	113	ENSP00000206765:N113K	ENSP00000206765:N113K	N	-	3	2	TGM1	23800910	0.000000	0.05858	0.023000	0.16930	0.131000	0.20780	-3.860000	0.00348	-3.021000	0.00269	-1.036000	0.02392	AAC		TCGA-IB-7651-01A-11D-2154-08	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	1	0	0	36	423	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	35	416	0	97	2								-3.221883	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.910000	0.650000	1.000000	1.000000	0.898978	0.910000	1	7.700000e-01	1
DHRS1	115817	broad.mit.edu	37	14	24768170	24768170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24768170G>A	ENST00000288111.7	-	2	419	c.143C>T	c.(142-144)gCt>gTt	p.A48V	DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V|NOP9_ENST00000267425.3_5'Flank|NOP9_ENST00000396802.3_5'Flank	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1			6					CACCTCCTGAGCAACAACGCG	0.557000																								0							SO:0001583	missense			ENST00000288111.7	1	1	hg19	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781515	0.90282	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.87179	-2.22;-2.22	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	N	0.21194	0.64	0.80722	D	1	P	0.39717	0.684	P	0.45712	0.491	D	0.84989	0.0893	10	0.62326	D	0.03	-11.7277	13.9863	0.64337	0.0:0.0:1.0:0.0	.	48	Q96LJ7	DHRS1_HUMAN	V	48	ENSP00000288111:A48V;ENSP00000380027:A48V	ENSP00000288111:A48V	A	-	2	0	DHRS1	23838010	1.000000	0.71417	0.934000	0.37439	0.792000	0.44763	6.199000	0.72112	2.675000	0.91044	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	1	0	1	40	262	0	81	1	9.999976e-01	52	79	0	81	2		0	0	0	0	0	2	1	1	37	259	0	80	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999836	0.990000	1	9.900000e-01	1
LTB4R2	56413	broad.mit.edu	37	14	24780826	24780826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24780826G>A	ENST00000528054.1	+	1	2666	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	CIDEB_ENST00000336557.5_5'Flank|CIDEB_ENST00000555817.1_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|LTB4R_ENST00000345363.3_5'UTR|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000258807.5_5'Flank|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2			3					GGGGGCGGCCGCTCTAGGGAA	0.677000																								0							SO:0001583	missense			ENST00000528054.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.98	3.738029	0.69304	.	.	ENSG00000213906	ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.36	4.81	3.91	0.45181	.	0.431407	0.21050	U	0.081007	T	0.48554	0.1506	N	0.24115	0.695	0.80722	D	1	B	0.24258	0.1	B	0.14023	0.01	T	0.43130	-0.9410	10	0.48119	T	0.1	.	7.7868	0.29097	0.1924:0.0:0.8076:0.0	.	350	Q9NPC1	LT4R2_HUMAN	H	350;319;319;319	ENSP00000432146:R350H;ENSP00000433290:R319H;ENSP00000445772:R319H;ENSP00000434760:R319H	ENSP00000337731:R350H	R	+	2	0	LTB4R2	23850666	0.074000	0.21230	0.995000	0.50966	0.972000	0.66771	0.866000	0.27954	1.015000	0.39444	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4	1	0	1	129	394	0	78	0	6.143534e-02	0	2	0	78	2		0	0	0	0	0	2	1	1	127	388	0	77	2								-5.344328	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIPK3	11035	broad.mit.edu	37	14	24806143	24806143	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24806143C>A	ENST00000216274.5	-	9	1502	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000396747.3_5'Flank|ADCY4_ENST00000554068.2_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D|ADCY4_ENST00000418030.2_5'Flank|RIPK3_ENST00000554338.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3			23					TGCCTTGTCTCTCAGCCCCCT	0.557000													Pancreas(58;918 1191 4668 13304 15331)											0							SO:0001583	missense			ENST00000216274.5	1	1	hg19	CCDS9628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007385|2.007385	0.35415|0.35415	.|.	.|.	ENSG00000258973;ENSG00000129465|ENSG00000129465	ENST00000555591;ENST00000216274|ENST00000554569	T|.	0.44482|.	0.92|.	4.49|4.49	2.61|2.61	0.31194|0.31194	.|.	1.079420|.	0.07158|.	N|.	0.850264|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.20550|.	0.037;0.046|.	B;B|.	0.21917|.	0.027;0.037|.	T|T	0.19679|0.19679	-1.0298|-1.0298	10|5	0.02654|.	T|.	1|.	-1.3913|-1.3913	5.6008|5.6008	0.17353|0.17353	0.0:0.6885:0.2021:0.1094|0.0:0.6885:0.2021:0.1094	.|.	102;428|.	G3V2L1;Q9Y572|.	.;RIPK3_HUMAN|.	D|I	102;428|109	ENSP00000216274:E428D|.	ENSP00000216274:E428D|.	E|R	-|-	3|2	2|0	RIPK3;RP11-934B9.3|RIPK3	23875983|23875983	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.113000|0.113000	0.19764|0.19764	-0.998000|-0.998000	0.03701|0.03701	0.786000|0.786000	0.33708|0.33708	0.655000|0.655000	0.94253|0.94253	GAG|AGA		TCGA-IB-7651-01A-11D-2154-08	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	1	0	1	93	395	0	110	1	9.999997e-01	45	47	0	110	2		0	0	0	0	0	2	1	1	88	389	0	109	2								-3.387172	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIPK3	11035	broad.mit.edu	37	14	24808519	24808519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24808519G>T	ENST00000216274.5	-	3	391	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3			23					GACCTCCCTGGATATCGCCTT	0.587000													Pancreas(58;918 1191 4668 13304 15331)											0							SO:0001583	missense			ENST00000216274.5	1	1	hg19	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728327	0.48833	.	.	ENSG00000129465	ENST00000216274	T	0.66815	-0.23	4.69	2.85	0.33270	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.592034	0.15399	N	0.264383	T	0.67924	0.2945	L	0.48260	1.515	0.09310	N	1	D;D	0.76494	0.994;0.999	P;D	0.83275	0.879;0.996	T	0.57573	-0.7788	10	0.02654	T	1	-5.91	6.448	0.21887	0.099:0.1844:0.7166:0.0	.	58;58	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	Y	58	ENSP00000216274:S58Y	ENSP00000216274:S58Y	S	-	2	0	RIPK3	23878359	0.016000	0.18221	0.040000	0.18447	0.098000	0.18820	0.190000	0.17057	0.701000	0.31803	-0.304000	0.09214	TCC		TCGA-IB-7651-01A-11D-2154-08	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	1	0	1	107	441	0	106	1	9.999977e-01	15	63	0	106	2		0	0	0	0	0	2	1	1	106	437	0	104	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC4	4776	broad.mit.edu	37	14	24838944	24838944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24838944C>T	ENST00000250373.4	+	2	481	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000413692.2_Missense_Mutation_p.P177S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P146S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4			34					TCTCGAGTGTCCCAGCATCCG	0.687000																								0							SO:0001583	missense			ENST00000250373.4	1	1	hg19	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028917	0.75504	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	3.48	3.48	0.39840	.	0.000000	0.53938	D	0.000055	T	0.32585	0.0834	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.994;0.996;0.992	T	0.09314	-1.0680	10	0.87932	D	0	-4.9353	12.5733	0.56349	0.0:1.0:0.0:0.0	.	102;102;146;146;127;127;127;177;177;102;146;91;177;114	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	S	177;177;127;127;127;146;146;146;114;114;114;114;91;44;44;44;102;44;102;102	ENSP00000388910:P177S;ENSP00000452039:P177S;ENSP00000451224:P127S;ENSP00000450644:P127S;ENSP00000388668:P127S;ENSP00000439350:P146S;ENSP00000452270:P146S;ENSP00000451502:P146S;ENSP00000451151:P114S;ENSP00000451853:P114S;ENSP00000250373:P114S;ENSP00000450590:P114S;ENSP00000452352:P91S;ENSP00000452349:P44S;ENSP00000450469:P44S;ENSP00000450733:P44S;ENSP00000451454:P102S;ENSP00000451284:P44S;ENSP00000396788:P102S;ENSP00000450686:P102S	ENSP00000250373:P114S	P	+	1	0	NFATC4	23908784	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.886000	0.75611	1.797000	0.52628	0.558000	0.71614	CCC		TCGA-IB-7651-01A-11D-2154-08	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	1	0	0	28	122	0	14	1	9.387224e-01	3	20	0	14	2		0	0	0	0	0	2	1	1	27	119	0	14	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
NFATC4	4776	broad.mit.edu	37	14	24839076	24839076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24839076G>A	ENST00000250373.4	+	2	613	c.472G>A	c.(472-474)Gca>Aca	p.A158T	NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000413692.2_Missense_Mutation_p.A221T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4			34					CTACAGAGAAGCAGGGGGCCA	0.667000																								0							SO:0001583	missense			ENST00000250373.4	1	1	hg19	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171899	0.21704	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	3.8	2.91	0.33838	.	0.397445	0.18366	N	0.143422	T	0.09905	0.0243	N	0.14661	0.345	0.42755	D	0.993781	P;B;P;B;P;P;P;B;B;B;B;B;B;P	0.50528	0.936;0.0;0.936;0.0;0.936;0.936;0.936;0.0;0.0;0.0;0.0;0.0;0.0;0.895	P;B;P;B;P;P;P;B;B;B;B;B;B;B	0.44477	0.451;0.001;0.451;0.001;0.451;0.451;0.451;0.001;0.001;0.001;0.001;0.001;0.001;0.264	T	0.18178	-1.0345	10	0.38643	T	0.18	-3.8362	5.22	0.15364	0.1177:0.2108:0.6714:0.0	.	146;146;190;190;171;171;171;221;221;146;190;135;221;158	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	T	221;221;171;171;171;190;190;190;158;158;158;135;88;88;88;146;88;146;146	ENSP00000388910:A221T;ENSP00000452039:A221T;ENSP00000451224:A171T;ENSP00000450644:A171T;ENSP00000388668:A171T;ENSP00000439350:A190T;ENSP00000452270:A190T;ENSP00000451502:A190T;ENSP00000451151:A158T;ENSP00000250373:A158T;ENSP00000450590:A158T;ENSP00000452352:A135T;ENSP00000452349:A88T;ENSP00000450469:A88T;ENSP00000450733:A88T;ENSP00000451454:A146T;ENSP00000451284:A88T;ENSP00000396788:A146T;ENSP00000450686:A146T	ENSP00000250373:A158T	A	+	1	0	NFATC4	23908916	1.000000	0.71417	0.915000	0.36163	0.688000	0.40055	1.570000	0.36439	0.804000	0.34136	0.467000	0.42956	GCA		TCGA-IB-7651-01A-11D-2154-08	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	1	0	0	16	85	0	30	1	8.593162e-01	3	18	0	30	2		0	0	0	0	0	2	1	9.999552e-01	16	84	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998790	0.990000	1	9.900000e-01	1
NFATC4	4776	broad.mit.edu	37	14	24843013	24843013	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843013G>A	ENST00000250373.4	+	5	1813	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000413692.2_Missense_Mutation_p.V621M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4			34					CCGGGTACACGTGCCCCAGGG	0.592000																								0							SO:0001583	missense			ENST00000250373.4	1	1	hg19	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939180	0.73557	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.99	4.99	0.66335	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.070256	0.56097	D	0.000027	T	0.59918	0.2229	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.70716	0.822;0.934;0.95;0.934;0.95;0.966;0.934;0.934;0.934;0.934;0.95;0.966;0.966;0.95;0.97	T	0.62685	-0.6802	10	0.87932	D	0	-5.9858	15.8129	0.78578	0.0:0.0:1.0:0.0	.	546;546;590;590;571;571;571;621;621;546;488;590;535;621;558	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	M	621;621;571;571;571;590;590;590;558;558;558;488;488;488;546;488;546;546;93;93;93	ENSP00000388910:V621M;ENSP00000452039:V621M;ENSP00000451224:V571M;ENSP00000450644:V571M;ENSP00000388668:V571M;ENSP00000439350:V590M;ENSP00000452270:V590M;ENSP00000451502:V590M;ENSP00000451151:V558M;ENSP00000250373:V558M;ENSP00000450590:V558M;ENSP00000452349:V488M;ENSP00000450469:V488M;ENSP00000450733:V488M;ENSP00000451454:V546M;ENSP00000451284:V488M;ENSP00000396788:V546M;ENSP00000450686:V546M;ENSP00000450810:V93M;ENSP00000451183:V93M;ENSP00000451395:V93M	ENSP00000250373:V558M	V	+	1	0	NFATC4	23912853	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.841000	0.48223	2.573000	0.86826	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	1	0	1	100	351	0	62	1	9.992529e-01	3	37	0	62	2		0	0	0	0	0	2	1	1	96	345	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC4	4776	broad.mit.edu	37	14	24843536	24843536	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843536G>T	ENST00000250373.4	+	6	1878	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000413692.2_Missense_Mutation_p.Q642H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4			34					CTGCAGCCCAGCGCTCAGCCC	0.647000																								0							SO:0001583	missense			ENST00000250373.4	1	1	hg19	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907924	0.72868	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.1	5.1	0.69264	Rel homology (1);p53-like transcription factor, DNA-binding (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.991;0.994;0.991;0.996;0.991;0.982;0.996;0.996;0.996;0.996;0.982;0.991;0.96	T	0.73936	-0.3825	10	0.87932	D	0	-6.7569	9.4289	0.38597	0.0935:0.0:0.9065:0.0	.	567;567;611;611;592;592;592;642;642;567;611;642;579	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	642;642;592;592;592;611;611;611;579;579;579;509;509;509;567;509;567;567;114;114;114	ENSP00000388910:Q642H;ENSP00000452039:Q642H;ENSP00000451224:Q592H;ENSP00000450644:Q592H;ENSP00000388668:Q592H;ENSP00000439350:Q611H;ENSP00000452270:Q611H;ENSP00000451502:Q611H;ENSP00000451151:Q579H;ENSP00000250373:Q579H;ENSP00000450590:Q579H;ENSP00000452349:Q509H;ENSP00000450469:Q509H;ENSP00000450733:Q509H;ENSP00000451454:Q567H;ENSP00000451284:Q509H;ENSP00000396788:Q567H;ENSP00000450686:Q567H;ENSP00000450810:Q114H;ENSP00000451183:Q114H;ENSP00000451395:Q114H	ENSP00000250373:Q579H	Q	+	3	2	NFATC4	23913376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.629000	0.46485	2.644000	0.89710	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	1	0	1	32	137	0	32	1	9.999711e-01	2	72	0	32	2		0	0	0	0	0	2	1	1	31	135	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24868646	24868646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24868646C>T	ENST00000382554.3	+	2	512	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					ATGGGCAAAGCCAAGGTAAAC	0.617000																								0							SO:0001583	missense			ENST00000382554.3	1	0	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987209	0.93106	.	.	ENSG00000205978	ENST00000382554	T	0.37915	1.17	4.13	4.13	0.48395	.	0.000000	0.33732	U	0.004607	T	0.59878	0.2226	M	0.77820	2.39	0.33606	D	0.603016	D	0.76494	0.999	D	0.75484	0.986	T	0.74228	-0.3733	10	0.87932	D	0	.	13.9118	0.63871	0.0:1.0:0.0:0.0	.	65	Q9P2P1	NYNRI_HUMAN	V	65	ENSP00000371994:A65V	ENSP00000371994:A65V	A	+	2	0	NYNRIN	23938486	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.676000	0.46883	2.129000	0.65627	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	0	13	73	0	22	1	9.258327e-01	4	24	0	22	2		0	0	0	0	0	2	1	9.996216e-01	13	71	0	21	2								-19.998360	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.996513	0.990000	1	9.900000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					CCTGAAGGGCCTGTGCAGCCC	0.627000																								0							SO:0001583	missense			ENST00000382554.3	1	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042273	0.55003	.	.	ENSG00000205978	ENST00000382554	T	0.22539	1.95	4.46	4.46	0.54185	.	0.185553	0.23343	U	0.049219	T	0.45357	0.1338	M	0.72894	2.215	0.26018	N	0.981903	D	0.76494	0.999	D	0.75484	0.986	T	0.31668	-0.9935	10	0.87932	D	0	.	14.6529	0.68811	0.0:1.0:0.0:0.0	.	72	Q9P2P1	NYNRI_HUMAN	M	72	ENSP00000371994:L72M	ENSP00000371994:L72M	L	+	1	2	NYNRIN	23946930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.082000	0.57635	2.306000	0.77630	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	97	385	0	93	0	6.291247e-01	1	9	0	93	2		0	0	0	0	0	2	1	1	96	378	0	92	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24877717	24877717	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877717G>T	ENST00000382554.3	+	3	1159	c.841G>T	c.(841-843)Gca>Tca	p.A281S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					GCAGGAGGCAGCAAACCAGCT	0.542000																								0							SO:0001583	missense			ENST00000382554.3	0	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	2.693	-0.272766	0.05716	.	.	ENSG00000205978	ENST00000382554	T	0.15718	2.4	4.96	0.915	0.19366	.	5.157060	0.00166	N	0.000013	T	0.12305	0.0299	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.21449	-1.0245	10	0.33141	T	0.24	.	3.9295	0.09278	0.276:0.0:0.5574:0.1666	.	281	Q9P2P1	NYNRI_HUMAN	S	281	ENSP00000371994:A281S	ENSP00000371994:A281S	A	+	1	0	NYNRIN	23947557	0.000000	0.05858	0.107000	0.21349	0.066000	0.16364	0.447000	0.21710	0.258000	0.21686	-0.291000	0.09656	GCA		TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	0	8	138	0	23	0	4.227249e-01	0	24	0	23	2		0	0	0	0	0	2	1	9.891134e-01	8	135	0	23	2								-11.519260	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.650000	0.310000	1.000000	1.000000	0.676067	0.650000	0	4.600000e-01	9.000000e-01
NYNRIN	57523	broad.mit.edu	37	14	24877997	24877997	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877997C>A	ENST00000382554.3	+	4	1315	c.997C>A	c.(997-999)Ctc>Atc	p.L333I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					AGATAAACTCCTCTTCCAACC	0.592000																								0							SO:0001583	missense			ENST00000382554.3	1	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	4.780	0.144986	0.09134	.	.	ENSG00000205978	ENST00000382554	T	0.09723	2.95	5.15	-0.429	0.12303	.	1.504540	0.04431	N	0.369299	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.39143	-0.9628	10	0.59425	D	0.04	.	4.3648	0.11220	0.0:0.3338:0.1908:0.4754	.	333	Q9P2P1	NYNRI_HUMAN	I	333	ENSP00000371994:L333I	ENSP00000371994:L333I	L	+	1	0	NYNRIN	23947837	0.000000	0.05858	0.177000	0.23020	0.115000	0.19883	0.005000	0.13129	0.024000	0.15214	-0.136000	0.14681	CTC		TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	28	156	0	28	0	5.247060e-01	0	11	0	28	2		0	0	0	0	0	2	1	1	28	152	0	27	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999875	0.990000	1	9.900000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24878150	24878150	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24878150T>A	ENST00000382554.3	+	4	1468	c.1150T>A	c.(1150-1152)Tcc>Acc	p.S384T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					CTGGCTCCTGTCCCAGGCGTG	0.577000																								0							SO:0001583	missense			ENST00000382554.3	1	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961623	0.74016	.	.	ENSG00000205978	ENST00000382554	T	0.12147	2.71	5.36	4.21	0.49690	.	1.265810	0.05502	N	0.558597	T	0.18551	0.0445	L	0.27053	0.805	0.23758	N	0.996923	D	0.55172	0.97	P	0.51833	0.681	T	0.23190	-1.0195	10	0.87932	D	0	.	8.6955	0.34293	0.0:0.0:0.2085:0.7915	.	384	Q9P2P1	NYNRI_HUMAN	T	384	ENSP00000371994:S384T	ENSP00000371994:S384T	S	+	1	0	NYNRIN	23947990	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.587000	0.36622	2.246000	0.74042	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	17	147	0	25	0	5.210590e-01	1	15	0	25	2		0	0	0	0	0	2	1	9.999711e-01	17	145	0	25	2								-19.999990	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.740000	1.000000	1.000000	0.974597	0.990000	1	9.500000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24880593	24880593	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24880593A>C	ENST00000382554.3	+	6	2897	c.2579A>C	c.(2578-2580)aAg>aCg	p.K860T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					CACTCGCTCAAGATGCTTTCA	0.552000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000382554.3	1	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150699	0.78001	.	.	ENSG00000205978	ENST00000382554	T	0.44083	0.93	5.02	-0.0439	0.13857	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.44603	0.1301	L	0.36672	1.1	0.25084	N	0.9909	D	0.54601	0.967	P	0.58620	0.842	T	0.33445	-0.9868	9	0.87932	D	0	.	7.177	0.25751	0.5853:0.0:0.4147:0.0	.	860	Q9P2P1	NYNRI_HUMAN	T	860	ENSP00000371994:K860T	ENSP00000371994:K860T	K	+	2	0	NYNRIN	23950433	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.414000	0.52693	0.069000	0.16605	0.383000	0.25322	AAG		TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	214	884	0	254	1	9.616089e-01	3	21	0	254	2		0	0	0	0	0	2	1	1	210	859	0	251	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24884117	24884117	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884117C>T	ENST00000382554.3	+	9	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					CCCTGGACATCGACCTCCTGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000382554.3	1	1	hg19	CCDS45090.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	75	378	0	99	1	9.715364e-01	5	26	0	99	2		0	0	0	0	0	2	1	1	74	366	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24884802	24884802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884802C>T	ENST00000382554.3	+	9	4165	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					GGGGGAGAACCGCCTGCTCAC	0.612000																								0							SO:0001583	missense			ENST00000382554.3	1	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214810	0.22373	0.0	1.2E-4	ENSG00000205978	ENST00000382554	T	0.10477	2.87	4.93	4.01	0.46588	.	.	.	.	.	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	B	0.41299	0.353	T	0.26087	-1.0113	9	0.48119	T	0.1	.	13.0809	0.59114	0.0:0.8251:0.1749:0.0	.	1283	Q9P2P1	NYNRI_HUMAN	C	1283	ENSP00000371994:R1283C	ENSP00000371994:R1283C	R	+	1	0	NYNRIN	23954642	0.996000	0.38824	0.775000	0.31657	0.428000	0.31595	3.095000	0.50235	2.551000	0.86045	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	106	481	0	90	0	6.668262e-01	1	11	0	90	2		0	0	0	0	0	2	1	1	103	473	0	89	2								-3.280124	1	1	120928	6	42	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24885464	24885464	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24885464C>T	ENST00000382554.3	+	9	4827	c.4509C>T	c.(4507-4509)ggC>ggT	p.G1503G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					AACTGTCTGGCTCCTCACCGT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000382554.3	1	1	hg19	CCDS45090.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	29	137	0	36	1	9.415073e-01	7	18	0	36	2		0	0	0	0	0	2	1	1	29	134	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
NYNRIN	57523	broad.mit.edu	37	14	24886379	24886379	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24886379G>A	ENST00000382554.3	+	9	5742	c.5424G>A	c.(5422-5424)gcG>gcA	p.A1808A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					CTGACAAGGCGAGTGAAAAGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000382554.3	1	1	hg19	CCDS45090.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	1	64	333	0	80	1	9.858753e-01	4	33	0	80	2		0	0	0	0	0	2	1	1	62	325	0	80	2								-3.154547	1	1	121000	4	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KHNYN	23351	broad.mit.edu	37	14	24900668	24900668	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24900668G>T	ENST00000251343.5	+	3	340		c.e3-1		CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Splice_Site|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Splice_Site|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing			24					CTCCCAACCAGGAGTACCTGA	0.562000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000251343.5	1	1	hg19	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764467	0.31228	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6797	0.77357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KHNYN	23970508	1.000000	0.71417	0.992000	0.48379	0.325000	0.28411	7.234000	0.78134	2.383000	0.81215	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1	1	0	1	44	168	0	48	1	9.070715e-01	18	0	0	48	2		0	0	0	0	0	2	1	1	44	166	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KHNYN	23351	broad.mit.edu	37	14	24901383	24901383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24901383G>A	ENST00000251343.5	+	3	1055	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing			24					GAAAGGGAAGGCCCTGGGGAA	0.647000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000251343.5	1	1	hg19	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540476	0.13250	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.23950	1.88;1.88;1.88	4.96	1.95	0.26073	.	1.291830	0.04908	N	0.452731	T	0.14700	0.0355	L	0.27053	0.805	0.19775	N	0.99995	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	4.1275	0.10134	0.1963:0.0:0.6217:0.182	.	347;306	D3DS77;O15037	.;KHNYN_HUMAN	T	306	ENSP00000251343:A306T;ENSP00000451106:A306T;ENSP00000450799:A306T	ENSP00000251343:A306T	A	+	1	0	KHNYN	23971223	0.741000	0.28217	0.110000	0.21437	0.668000	0.39293	1.130000	0.31393	0.507000	0.28148	-0.448000	0.05591	GCC		TCGA-IB-7651-01A-11D-2154-08	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1	1	0	1	46	177	0	39	1	9.981537e-01	7	33	0	39	2		0	0	0	0	0	2	1	1	46	171	0	39	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTSG	1511	broad.mit.edu	37	14	25044478	25044478	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25044478A>G	ENST00000216336.2	-	2	232	c.196T>C	c.(196-198)Tgg>Cgg	p.W66R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G			25					CACCTTCCCCAGCAATGAGCT	0.552000																								0							SO:0001583	missense			ENST00000216336.2	1	1	hg19	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828653	0.16749	.	.	ENSG00000100448	ENST00000216336	D	0.88431	-2.38	5.38	-3.44	0.04796	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.520840	0.04420	N	0.367522	T	0.75925	0.3916	N	0.12746	0.255	0.20196	N	0.999921	B	0.13594	0.008	B	0.22880	0.042	T	0.61496	-0.7051	10	0.25106	T	0.35	.	3.8901	0.09114	0.3929:0.0:0.3384:0.2687	.	66	P08311	CATG_HUMAN	R	66	ENSP00000216336:W66R	ENSP00000216336:W66R	W	-	1	0	CTSG	24114318	0.024000	0.19004	0.030000	0.17652	0.954000	0.61252	0.034000	0.13776	-0.535000	0.06307	-0.333000	0.08304	TGG		TCGA-IB-7651-01A-11D-2154-08	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	1	0	0	68	326	0	85	0	6.411055e-01	0	12	0	85	2		0	0	0	0	0	2	1	1	67	316	0	85	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP6	29091	broad.mit.edu	37	14	25288317	25288317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25288317G>A	ENST00000323944.5	-	5	986	c.535C>T	c.(535-537)Cga>Tga	p.R179*	STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)			7					CGGCCTAATCGCTCTCCACGC	0.567000																								0							SO:0001587	stop_gained			ENST00000323944.5	0	1	hg19	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000043	0.54147	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000548369;ENST00000358326	.	.	.	5.35	2.14	0.27477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-10.9822	14.3759	0.66874	0.0:0.0:0.5902:0.4098	.	.	.	.	X	179;179;179;179;179;179;77;179	.	ENSP00000324302:R179X	R	-	1	2	STXBP6	24358157	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	2.682000	0.46934	0.236000	0.21180	-2.160000	0.00327	CGA		TCGA-IB-7651-01A-11D-2154-08	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1	1	0	1	165	677	0	135	0	1	1	174	0	135	2		0	0	0	0	0	2	1	1	163	670	0	135	2								-3.539099	1	1	121412	1	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOVA1	4857	broad.mit.edu	37	14	26917292	26917292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26917292C>T	ENST00000539517.2	-	5	1714	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D|NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1			40					ATTCCTTGTGCCAGGTACGAA	0.443000																								0							SO:0001583	missense			ENST00000539517.2	1	1	hg19	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175514	0.57692	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.29397	1.57;1.57;1.57	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.62551	0.2437	M	0.82193	2.58	0.80722	D	1	D;D;D	0.76494	0.999;0.987;0.999	D;D;D	0.87578	0.998;0.988;0.991	T	0.64166	-0.6471	10	0.62326	D	0.03	-22.96	20.3151	0.98650	0.0:1.0:0.0:0.0	.	469;442;466	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	442;466;344	ENSP00000447391:G442D;ENSP00000438875:G466D;ENSP00000267422:G344D	ENSP00000267422:G344D	G	-	2	0	NOVA1	25987132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC		TCGA-IB-7651-01A-11D-2154-08	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	1	0	0	14	178	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	9.997647e-01	14	175	0	38	2								-18.656730	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.850000	0.490000	1.000000	1.000000	0.839402	0.850000	1	6.600000e-01	1
NOVA1	4857	broad.mit.edu	37	14	26941524	26941524	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26941524A>C	ENST00000547619.1	-	4	579	c.521T>G	c.(520-522)gTa>gGa	p.V174G	NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000539517.2_Splice_Site			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1			40					ATGATACTGTACCTGATTAGC	0.453000																								0							SO:0001583	missense			ENST00000547619.1	1	0	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.02|19.02	3.746807|3.746807	0.69418|0.69418	.|.	.|.	ENSG00000139910|ENSG00000139910	ENST00000539517;ENST00000267422;ENST00000449198;ENST00000549146;ENST00000549571;ENST00000344429|ENST00000547619	.|T	.|0.48522	.|0.81	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66396	.|0.2785	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70044	.|-0.4980	.|6	.|0.87932	.|D	.|0	.|.	16.3782|16.3782	0.83418|0.83418	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|G	-1|174	.|ENSP00000448157:V174G	.|ENSP00000448157:V174G	.|V	-|-	.|2	.|0	NOVA1|NOVA1	26011364|26011364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.165000|7.165000	0.77544|0.77544	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	.|GTA		TCGA-IB-7651-01A-11D-2154-08	NOVA1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000408504.1	1	0	0	22	108	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.999990e-01	22	103	0	22	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999856	0.990000	1	9.900000e-01	1
FOXG1	2290	broad.mit.edu	37	14	29236501	29236501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236501G>A	ENST00000313071.4	+	1	215	c.16G>A	c.(16-18)Gat>Aat	p.D6N	FOXG1_ENST00000382535.3_Missense_Mutation_p.D6N|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1			43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)		GGACATGGGAGATAGGAAAGA	0.682000																								0							SO:0001583	missense			ENST00000313071.4	0	1	hg19	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248073	0.59103	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94828	-3.53;-3.53	1.99	1.0	0.19881	.	.	.	.	.	D	0.89259	0.6664	L	0.27053	0.805	0.27461	N	0.953154	B	0.28026	0.198	B	0.29862	0.108	T	0.81780	-0.0776	9	0.72032	D	0.01	.	9.1221	0.36793	0.0:0.0:0.7789:0.2211	.	6	P55316	FOXG1_HUMAN	N	6	ENSP00000371975:D6N;ENSP00000339004:D6N	ENSP00000339004:D6N	D	+	1	0	FOXG1	28306252	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.340000	0.59328	0.129000	0.18514	-0.553000	0.04205	GAT		TCGA-IB-7651-01A-11D-2154-08	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	0	0	0	7	51	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.792454e-01	7	48	0	14	2								-13.971090	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.630000	1.000000	1.000000	0.963806	0.990000	1	9.400000e-01	1
FOXG1	2290	broad.mit.edu	37	14	29236593	29236593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236593C>T	ENST00000313071.4	+	1	307	c.108C>T	c.(106-108)agC>agT	p.S36S	FOXG1_ENST00000382535.3_Silent_p.S36S|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1			43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)		ACCACGCGAGCCACGGccacc	0.667000																								0							SO:0001819	synonymous_variant			ENST00000313071.4	1	1	hg19	CCDS9636.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	1	0	0	14	55	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.996233e-01	13	47	0	9	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999572	0.990000	1	9.900000e-01	1
FOXG1	2290	broad.mit.edu	37	14	29237629	29237629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29237629G>A	ENST00000313071.4	+	1	1343	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	FOXG1_ENST00000382535.3_Missense_Mutation_p.A382T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1			43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)		CCTCACGGCCGCCGCGCTAGC	0.701000																								0							SO:0001583	missense			ENST00000313071.4	1	1	hg19	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886739	0.33348	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93811	-3.29;-3.29	4.21	4.21	0.49690	.	0.132985	0.49305	U	0.000146	D	0.88533	0.6462	N	0.19112	0.55	0.53005	D	0.999967	D	0.57899	0.981	B	0.44315	0.446	D	0.87944	0.2719	10	0.28530	T	0.3	.	16.9273	0.86180	0.0:0.0:1.0:0.0	.	382	P55316	FOXG1_HUMAN	T	382	ENSP00000371975:A382T;ENSP00000339004:A382T	ENSP00000339004:A382T	A	+	1	0	FOXG1	28307380	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.678000	0.98647	2.042000	0.60477	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	1	0	1	81	265	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	80	260	0	44	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKD1	5587	broad.mit.edu	37	14	30107904	30107904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107904G>A	ENST00000331968.5	-	5	1132	c.903C>T	c.(901-903)tgC>tgT	p.C301C	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.C309C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1			78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)		CCTTACCTTTGCACTGCAAGC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000331968.5	1	1	hg19	CCDS9637.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	1	0	1	36	151	0	37	1	9.799041e-01	3	26	0	37	2		0	0	0	0	0	2	1	1	35	150	0	36	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKD1	5587	broad.mit.edu	37	14	30107919	30107919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107919C>T	ENST00000331968.5	-	5	1117	c.888G>A	c.(886-888)agG>agA	p.R296R	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.R304R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1			78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)		GCAAGCCCTGCCTGAAAAGCC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000331968.5	1	1	hg19	CCDS9637.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	0	0	0	8	193	0	42	0	4.497551e-01	1	34	0	42	2		0	0	0	0	0	2	1	9.893735e-01	8	191	0	41	2								-10.251310	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.480000	0.220000	0.840000	0.460000	0.505972	0.480000	0	3.300000e-01	6.600000e-01
G2E3	55632	broad.mit.edu	37	14	31077197	31077197	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31077197C>T	ENST00000206595.6	+	12	1576	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	G2E3_ENST00000438909.2_Silent_p.C428C|G2E3_ENST00000553504.1_Silent_p.C504C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase			23					TGTTTAACTGCCTTGTTTATG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000206595.6	1	1	hg19	CCDS9638.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	1	0	1	80	413	0	90	1	9.973042e-01	19	29	0	90	2		0	0	0	0	0	2	1	1	80	402	1	90	18								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
G2E3	55632	broad.mit.edu	37	14	31085649	31085649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31085649C>T	ENST00000206595.6	+	15	2184	c.2030C>T	c.(2029-2031)aCa>aTa	p.T677I	G2E3_ENST00000438909.2_Missense_Mutation_p.T631I|G2E3_ENST00000553504.1_Missense_Mutation_p.T707I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase			23					ATCACCAATACATATAAAGAG	0.353000																								0							SO:0001583	missense			ENST00000206595.6	1	1	hg19	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961191	0.74016	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.51325	0.71;0.71;0.71	5.8	5.8	0.92144	HECT (3);	0.207572	0.50627	D	0.000104	T	0.67748	0.2926	M	0.69823	2.125	0.41583	D	0.988754	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.974	T	0.70400	-0.4882	10	0.87932	D	0	-14.5557	15.5232	0.75881	0.0:0.8624:0.1376:0.0	.	189;677	Q49AD9;Q7L622	.;G2E3_HUMAN	I	677;631;707	ENSP00000206595:T677I;ENSP00000391068:T631I;ENSP00000451653:T707I	ENSP00000206595:T677I	T	+	2	0	G2E3	30155400	0.070000	0.21116	0.997000	0.53966	0.850000	0.48378	2.887000	0.48586	2.736000	0.93811	0.591000	0.81541	ACA		TCGA-IB-7651-01A-11D-2154-08	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	1	0	1	30	159	0	45	1	9.956031e-01	20	28	0	45	2		0	0	0	0	0	2	1	1	28	157	0	45	2								-16.860620	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999955	0.990000	1	9.900000e-01	1
SCFD1	23256	broad.mit.edu	37	14	31119778	31119778	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31119778A>G	ENST00000458591.2	+	9	904	c.677A>G	c.(676-678)gAc>gGc	p.D226G	SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1			13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)		CAGAAACTAGACAAGAAACTT	0.294000																								0							SO:0001583	missense			ENST00000458591.2	1	1	hg19	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383097	0.82792	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000553693;ENST00000396629;ENST00000469043	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.82193	2.58	0.80722	D	1	P;D;D;D	0.89917	0.888;1.0;1.0;1.0	P;D;D;D	0.80764	0.83;0.989;0.994;0.989	D	0.90252	0.4294	10	0.87932	D	0	-12.2595	15.1704	0.72869	1.0:0.0:0.0:0.0	.	167;159;134;226	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	G	226;159;167;41;67;134;81	ENSP00000390783:D226G;ENSP00000443010:D159G;ENSP00000388078:D167G;ENSP00000443537:D41G;ENSP00000452308:D67G;ENSP00000379870:D134G;ENSP00000452448:D81G	ENSP00000309417:D234G	D	+	2	0	SCFD1	30189529	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.600000	0.90860	2.180000	0.69256	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	1	0	1	35	155	0	49	1	1	70	201	0	49	2		0	0	0	0	0	2	1	1	35	150	0	49	2								-19.890550	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SCFD1	23256	broad.mit.edu	37	14	31144232	31144232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31144232C>T	ENST00000458591.2	+	14	1430	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000541123.1_Silent_p.L216L|SCFD1_ENST00000421551.3_Silent_p.L342L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1			13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)		TTATTGATCTCCATACAAATG	0.299000																								0							SO:0001819	synonymous_variant			ENST00000458591.2	1	1	hg19	CCDS9639.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	1	0	1	49	264	0	76	1	1	44	116	0	76	2		0	0	0	0	0	2	1	1	49	259	0	74	2								-3.029936	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
COCH	1690	broad.mit.edu	37	14	31348032	31348032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31348032C>T	ENST00000396618.3	+	5	311	c.255C>T	c.(253-255)aaC>aaT	p.N85N	COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Silent_p.N85N|COCH_ENST00000475087.1_Silent_p.N85N|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_5'Flank	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin			19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)		TAATCAGCAACTCAGGGGGAC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000396618.3	1	1	hg19	CCDS9640.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	1	0	1	45	267	0	57	1	7.555089e-01	3	15	0	57	2		0	0	0	0	0	2	1	1	43	261	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
COCH	1690	broad.mit.edu	37	14	31355162	31355162	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355162G>T	ENST00000396618.3	+	11	1177	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	COCH_ENST00000460581.2_Missense_Mutation_p.G262V|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000475087.1_Missense_Mutation_p.G374V|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.G225V|RP11-829H16.3_ENST00000556786.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin			19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)		CTAATTGATGGCTCCAGCAGT	0.423000																								0							SO:0001583	missense			ENST00000396618.3	1	1	hg19	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.713168|4.713168	0.89112|0.89112	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000468826|ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	.|D;D;D;D;D	.|0.84370	.|-1.84;-1.84;-1.84;-1.84;-1.84	6.02|6.02	6.02|6.02	0.97574|0.97574	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94525|0.94525	0.8237|0.8237	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.94690|0.94690	0.7873|0.7873	5|10	.|0.87932	.|D	.|0	-14.0876|-14.0876	20.547|20.547	0.99278|0.99278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225;374;374	.|E7EN67;Q96IU6;O43405	.|.;.;COCH_HUMAN	S|V	258|374;374;374;262;225	.|ENSP00000216361:G374V;ENSP00000379862:G374V;ENSP00000451528:G374V;ENSP00000451713:G262V;ENSP00000371933:G225V	.|ENSP00000216361:G374V	A|G	+|+	1|2	0|0	COCH|COCH	30424913|30424913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.827000|9.827000	0.99397|0.99397	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GCT|GGC		TCGA-IB-7651-01A-11D-2154-08	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	1	0	1	55	296	0	54	1	7.699891e-01	4	13	0	54	2		0	0	0	0	0	2	1	1	55	292	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COCH	1690	broad.mit.edu	37	14	31355352	31355352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355352C>A	ENST00000396618.3	+	11	1367	c.1311C>A	c.(1309-1311)atC>atA	p.I437I	COCH_ENST00000460581.2_Silent_p.I325I|COCH_ENST00000216361.4_Silent_p.I437I|COCH_ENST00000475087.1_Silent_p.I437I|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Silent_p.I288I|RP11-829H16.3_ENST00000556786.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin			19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)		TCAGAAACATCCGCTATATGA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000396618.3	0	1	hg19	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479494	0.44044	.	.	ENSG00000100473	ENST00000468826	.	.	.	5.89	1.97	0.26223	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40701	-0.9549	4	.	.	.	-16.2163	6.53	0.22322	0.2206:0.5955:0.0:0.1839	.	.	.	.	Y	321	.	.	S	+	2	0	COCH	30425103	0.911000	0.30947	0.998000	0.56505	0.980000	0.70556	0.214000	0.17541	0.080000	0.16959	0.557000	0.71058	TCC		TCGA-IB-7651-01A-11D-2154-08	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	0	0	0	15	433	0	72	1	1.355062e-01	2	16	0	72	2		0	0	0	0	0	2	1	9.998651e-01	15	428	0	72	2								-3.478125	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.390000	0.230000	0.610000	0.390000	0.411878	0.390000	0	3.000000e-01	5.100000e-01
STRN3	29966	broad.mit.edu	37	14	31374730	31374730	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31374730G>T	ENST00000357479.5	-	15	2119	c.1923C>A	c.(1921-1923)ggC>ggA	p.G641G	STRN3_ENST00000355683.5_Silent_p.G557G	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3			20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)		CTGGATCACAGCCTATAAAGT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000357479.5	1	1	hg19	CCDS41938.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	1	0	1	60	223	0	84	1	1	21	82	0	84	2		0	0	0	0	0	2	1	1	55	218	0	84	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRN3	29966	broad.mit.edu	37	14	31416418	31416418	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31416418C>A	ENST00000357479.5	-	5	790	c.594G>T	c.(592-594)caG>caT	p.Q198H	STRN3_ENST00000355683.5_Missense_Mutation_p.Q198H	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3			20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)		ACCTTACCCGCTGAGACCGTA	0.358000																								0							SO:0001583	missense			ENST00000357479.5	1	1	hg19	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491504	0.44249	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86097	-2.07;-2.07	5.9	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.50333	1.59	0.54753	D	0.999983	P;B	0.51351	0.944;0.035	B;B	0.41202	0.35;0.028	T	0.78866	-0.2035	10	0.54805	T	0.06	0.5774	10.3793	0.44101	0.0:0.8053:0.0:0.1947	.	198;198	Q13033-2;Q13033	.;STRN3_HUMAN	H	198;198;79	ENSP00000347909:Q198H;ENSP00000350071:Q198H	ENSP00000347909:Q198H	Q	-	3	2	STRN3	30486169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.598000	0.36740	0.812000	0.34326	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	1	0	1	70	443	0	108	1	9.999722e-01	25	71	0	108	2		0	0	0	0	0	2	1	1	70	434	0	106	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
HECTD1	25831	broad.mit.edu	37	14	31576881	31576881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31576881G>A	ENST00000399332.1	-	37	6998	c.6510C>T	c.(6508-6510)ggC>ggT	p.G2170G	HECTD1_ENST00000553700.1_Silent_p.G2170G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1			70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)		TGGGTCCCAAGCCAGTTCCTT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000399332.1	1	1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	6.123	0.390926	0.11581	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.4	0.363	0.16118	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	-7.9649	1.3289	0.02130	0.2089:0.1226:0.4159:0.2526	.	.	.	.	V	536	.	.	A	-	2	0	HECTD1	30646632	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	0.423000	0.21313	-0.210000	0.10140	-0.274000	0.10170	GCT		TCGA-IB-7651-01A-11D-2154-08	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	1	64	237	0	55	1	1	38	117	0	55	2		0	0	0	0	0	2	1	1	64	236	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECTD1	25831	broad.mit.edu	37	14	31597095	31597095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597095G>A	ENST00000399332.1	-	26	5365	c.4877C>T	c.(4876-4878)aCa>aTa	p.T1626I	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1			70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)		TGATAAAACTGTTGTTGCTGT	0.423000																								0							SO:0001583	missense			ENST00000399332.1	1	1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965877	0.53507	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.08282	3.11;3.11;3.11	6.04	6.04	0.98038	.	0.000000	0.85682	U	0.000000	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.04976	-1.0914	10	0.26408	T	0.33	-11.9377	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1626;1626	D3DS86;Q9ULT8	.;HECD1_HUMAN	I	1626;1628;1626;1053	ENSP00000450697:T1626I;ENSP00000382269:T1626I;ENSP00000451860:T1053I	ENSP00000261312:T1628I	T	-	2	0	HECTD1	30666846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.845000	0.99498	2.873000	0.98535	0.561000	0.74099	ACA		TCGA-IB-7651-01A-11D-2154-08	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	0	0	1	74	327	1	88	1	9.999846e-01	24	109	1	88	7		0	0	0	0	0	2	1	1	74	319	1	86	16								-3.433845	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECTD1	25831	broad.mit.edu	37	14	31597990	31597990	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597990G>T	ENST00000399332.1	-	25	5075	c.4587C>A	c.(4585-4587)agC>agA	p.S1529R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1			70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)		TTGCACTAGAGCTCATAGGGG	0.453000																								0							SO:0001583	missense			ENST00000399332.1	1	1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036545	0.35893	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.56103	0.85;0.85;0.48	6.16	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.53818	0.1820	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.54853	-0.8231	10	0.40728	T	0.16	-7.3109	9.5157	0.39104	0.2074:0.0:0.7926:0.0	.	1529;1529	D3DS86;Q9ULT8	.;HECD1_HUMAN	R	1529;1531;1529;956	ENSP00000450697:S1529R;ENSP00000382269:S1529R;ENSP00000451860:S956R	ENSP00000261312:S1531R	S	-	3	2	HECTD1	30667741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.709000	0.54853	1.626000	0.50381	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	1	45	144	0	58	1	1	33	100	0	58	2		0	0	0	0	0	2	1	1	44	141	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECTD1	25831	broad.mit.edu	37	14	31618318	31618318	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31618318A>G	ENST00000399332.1	-	14	2692	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1			70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)		AGATGGCTTTACTTGGCCTCG	0.363000																								0							SO:0001583	missense			ENST00000399332.1	1	1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717245	0.89205	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.58810	1.83	0.80722	D	1	D;P	0.55605	0.972;0.924	P;P	0.59424	0.675;0.857	T	0.12811	-1.0533	10	0.54805	T	0.06	-15.8141	15.9701	0.80008	1.0:0.0:0.0:0.0	.	735;735	D3DS86;Q9ULT8	.;HECD1_HUMAN	A	735;735;735;209;735	ENSP00000450697:V735A;ENSP00000382269:V735A;ENSP00000451860:V209A;ENSP00000452015:V735A	ENSP00000261312:V735A	V	-	2	0	HECTD1	30688069	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.317000	0.96327	2.166000	0.68216	0.528000	0.53228	GTA		TCGA-IB-7651-01A-11D-2154-08	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	1	44	174	0	41	1	9.999997e-01	22	74	0	41	2		0	0	0	0	0	2	1	1	43	170	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECTD1	25831	broad.mit.edu	37	14	31641142	31641142	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31641142A>G	ENST00000399332.1	-	8	1745	c.1257T>C	c.(1255-1257)ggT>ggC	p.G419G	HECTD1_ENST00000553700.1_Silent_p.G419G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1			70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)		TAACATCTGCACCTCTCTCAC	0.303000																								0							SO:0001819	synonymous_variant			ENST00000399332.1	1	1	hg19	CCDS41939.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	0	38	180	0	35	1	9.998852e-01	17	52	0	35	2		0	0	0	0	0	2	1	1	37	175	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HECTD1	25831	broad.mit.edu	37	14	31647447	31647447	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31647447T>C	ENST00000399332.1	-	3	642	c.154A>G	c.(154-156)Act>Gct	p.T52A	HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1			70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)		GGTAAGAAAGTGCGAGGAGGA	0.338000																								0							SO:0001583	missense			ENST00000399332.1	1	1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572636	0.86542	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.33216	1.42;1.42;1.42	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.82323	2.585	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.59590	-0.7426	10	0.42905	T	0.14	-15.7729	15.1789	0.72938	0.0:0.0:0.0:1.0	.	52	Q9ULT8	HECD1_HUMAN	A	52	ENSP00000450697:T52A;ENSP00000382269:T52A;ENSP00000452015:T52A	ENSP00000261312:T52A	T	-	1	0	HECTD1	30717198	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	7.655000	0.83696	2.047000	0.60756	0.397000	0.26171	ACT		TCGA-IB-7651-01A-11D-2154-08	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	1	0	0	54	255	0	55	1	9.999794e-01	15	63	0	55	2		0	0	0	0	0	2	1	1	54	253	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR5A	25938	broad.mit.edu	37	14	31771685	31771685	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31771685G>A	ENST00000389961.3	-	32	5261	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	HEATR5A_ENST00000439727.1_Silent_p.I1467I|HEATR5A_ENST00000543095.2_Silent_p.I1760I|HEATR5A_ENST00000439348.1_Intron|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A			26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)		TGAGGACCCCGATTGTGAGGT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000389961.3	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	9	45	0	13	1	9.979491e-01	24	39	0	13	2		0	0	0	0	0	2	1	9.942037e-01	7	44	0	13	2								-17.413480	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.890000	1.000000	1.000000	0.993646	0.990000	1	9.900000e-01	1
HEATR5A	25938	broad.mit.edu	37	14	31819115	31819115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31819115C>T	ENST00000389961.3	-	17	2569	c.2570G>A	c.(2569-2571)gGa>gAa	p.G857E	HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E|HEATR5A_ENST00000543095.2_Missense_Mutation_p.G863E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A			26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)		TTCTAGGGCTCCCATAACTAA	0.448000																								0							SO:0001583	missense			ENST00000389961.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637646|3.637646	0.67130|0.67130	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.61859	.|0.07;0.07;0.07;0.07;0.07	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.119841	.|0.56097	.|D	.|0.000036	T|T	0.68302|0.68302	0.2986|0.2986	M|M	0.66939|0.66939	2.045|2.045	0.52099|0.52099	D|D	0.999948|0.999948	.|D;P;D	.|0.63046	.|0.992;0.516;0.975	.|P;B;P	.|0.55785	.|0.736;0.26;0.784	T|T	0.68849|0.68849	-0.5300|-0.5300	5|10	.|0.45353	.|T	.|0.12	.|.	14.9096|14.9096	0.70746|0.70746	0.0:0.8572:0.1428:0.0|0.0:0.8572:0.1428:0.0	.|.	.|863;857;857	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	K|E	491|857;857;570;863;863	.|ENSP00000374611:G857E;ENSP00000405407:G857E;ENSP00000408681:G570E;ENSP00000437968:G863E;ENSP00000384646:G863E	.|ENSP00000374611:G857E	E|G	-|-	1|2	0|0	HEATR5A|HEATR5A	30888866|30888866	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.596000|0.596000	0.36781|0.36781	3.660000|3.660000	0.54496|0.54496	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	GAG|GGA		TCGA-IB-7651-01A-11D-2154-08	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	19	70	0	20	1	9.991126e-01	14	33	0	20	2		0	0	0	0	0	2	1	9.999955e-01	19	69	0	20	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
HEATR5A	25938	broad.mit.edu	37	14	31844154	31844154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31844154G>A	ENST00000389961.3	-	11	1710	c.1711C>T	c.(1711-1713)Cac>Tac	p.H571Y	HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.H577Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A			26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)		CGAGCAAGGTGATGGCTAACA	0.413000																								0							SO:0001583	missense			ENST00000389961.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981905|3.981905	0.74474|0.74474	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.08008|.	3.14;3.14;3.14;3.14;3.14|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.051661|.	0.85682|.	D|.	0.000000|.	D|D	0.82802|0.82802	0.5116|0.5116	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D;P;D|.	0.76494|.	0.997;0.92;0.999|.	D;P;D|.	0.67725|.	0.92;0.615;0.953|.	T|T	0.83343|0.83343	-0.0007|-0.0007	10|5	0.07990|.	T|.	0.79|.	.|.	19.8765|19.8765	0.96875|0.96875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	577;571;571|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	Y|L	571;571;284;577;577|219	ENSP00000374611:H571Y;ENSP00000405407:H571Y;ENSP00000408681:H284Y;ENSP00000437968:H577Y;ENSP00000384646:H577Y|.	ENSP00000374611:H571Y|.	H|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30913905|30913905	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	5.725000|5.725000	0.68507|0.68507	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CAC|TCA		TCGA-IB-7651-01A-11D-2154-08	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	23	60	0	18	1	9.998243e-01	14	28	0	18	2		0	0	0	0	0	2	1	9.999997e-01	23	56	0	18	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ARHGAP5	394	broad.mit.edu	37	14	32560065	32560065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560065G>T	ENST00000345122.3	+	2	505	c.190G>T	c.(190-192)Gga>Tga	p.G64*	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5			55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)		TGACTTTGGAGGACGAGTAGT	0.368000													NSCLC(9;77 350 3443 29227 41353)											0							SO:0001587	stop_gained			ENST00000345122.3	0	1	hg19	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055869	0.76074	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000371897:G64X	G	+	1	0	ARHGAP5	31629816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	1	0	1	87	521	0	115	1	9.999971e-01	38	71	0	115	2		0	0	0	0	0	2	1	1	87	514	0	112	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP5	394	broad.mit.edu	37	14	32560429	32560429	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560429T>C	ENST00000345122.3	+	2	869	c.554T>C	c.(553-555)gTc>gCc	p.V185A	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5			55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)		AACCTTTTTGTCCAGTTATCA	0.328000													NSCLC(9;77 350 3443 29227 41353)											0							SO:0001583	missense			ENST00000345122.3	1	1	hg19	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	3.162	-0.171826	0.06421	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.78	5.78	0.91487	.	0.179418	0.47852	D	0.000212	T	0.43277	0.1240	N	0.01668	-0.77	0.30798	N	0.740217	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41324	-0.9515	10	0.07325	T	0.83	.	10.4499	0.44516	0.0:0.0724:0.0:0.9276	.	185;185	Q13017-2;Q13017	.;RHG05_HUMAN	A	185	ENSP00000452222:V185A;ENSP00000441692:V185A;ENSP00000371897:V185A;ENSP00000393307:V185A	ENSP00000371897:V185A	V	+	2	0	ARHGAP5	31630180	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.662000	0.61525	2.194000	0.70268	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	0	0	1	107	367	0	97	1	1	27	66	0	97	2		0	0	0	0	0	2	1	1	103	361	0	96	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP5	394	broad.mit.edu	37	14	32561798	32561798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32561798G>A	ENST00000345122.3	+	2	2238	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S641S|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.S641S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5			55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)		ATGCCAAATCGCCTTACTTTT	0.388000													NSCLC(9;77 350 3443 29227 41353)											0							SO:0001819	synonymous_variant			ENST00000345122.3	1	1	hg19	CCDS32062.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	1	0	1	153	661	0	158	1	1	37	95	0	158	2		0	0	0	0	0	2	1	1	149	652	0	157	2								-20.000000	1	1	121412	2	35	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP5	394	broad.mit.edu	37	14	32562094	32562094	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32562094A>C	ENST00000345122.3	+	2	2534	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5			55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)		TATCCTCGTAAATTTAATGAA	0.403000													NSCLC(9;77 350 3443 29227 41353)											0							SO:0001583	missense			ENST00000345122.3	1	1	hg19	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795819	0.31777	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.5	5.5	0.81552	.	0.041205	0.85682	D	0.000000	T	0.37892	0.1020	L	0.40543	1.245	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.25291	0.059;0.027	T	0.12372	-1.0550	10	0.33141	T	0.24	.	15.8997	0.79362	1.0:0.0:0.0:0.0	.	740;740	Q13017-2;Q13017	.;RHG05_HUMAN	T	740	ENSP00000452222:K740T;ENSP00000441692:K740T;ENSP00000371897:K740T;ENSP00000393307:K740T	ENSP00000371897:K740T	K	+	2	0	ARHGAP5	31631845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.403000	0.79983	2.206000	0.71126	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	1	0	1	113	424	0	118	1	1	34	81	0	118	2		0	0	0	0	0	2	1	1	111	417	0	118	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP6	9472	broad.mit.edu	37	14	32902714	32902714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32902714C>T	ENST00000280979.4	+	2	185	c.15C>T	c.(13-15)agC>agT	p.S5S	AKAP6_ENST00000557354.1_Silent_p.S5S|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Silent_p.S5S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6			122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)		TAACCATGAGCGTGACACTTT	0.493000													Melanoma(49;821 1200 7288 13647 42351)											0							SO:0001819	synonymous_variant			ENST00000280979.4	1	1	hg19	CCDS9644.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	1	0	1	36	203	0	65	1	2.410754e-02	2	0	0	65	2		0	0	0	0	0	2	1	1	36	200	0	65	2								-18.427160	1	1	121410	6	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
AKAP6	9472	broad.mit.edu	37	14	33016050	33016050	+	Missense_Mutation	SNP	G	G	A	rs139751571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33016050G>A	ENST00000280979.4	+	4	2361	c.2191G>A	c.(2191-2193)Gct>Act	p.A731T	AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	p.A731T(1)		122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)		TATGCCTCTCGCTGGCATGAA	0.448000													Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000280979.4	1	1	hg19	CCDS9644.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.915	0.538489	0.13250	0.005901	0.0	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.30448	1.53;1.53;1.53	6.17	2.52	0.30459	.	0.572707	0.18217	N	0.148006	T	0.10423	0.0255	N	0.08118	0	0.19775	N	0.99995	B;B	0.12630	0.001;0.006	B;B	0.08055	0.001;0.003	T	0.17410	-1.0370	10	0.46703	T	0.11	-1.973	7.7743	0.29029	0.2421:0.0:0.1282:0.6297	.	731;731	A7E242;Q13023	.;AKAP6_HUMAN	T	731	ENSP00000280979:A731T;ENSP00000450531:A731T;ENSP00000451247:A731T	ENSP00000280979:A731T	A	+	1	0	AKAP6	32085801	0.997000	0.39634	0.999000	0.59377	0.103000	0.19146	1.978000	0.40598	0.193000	0.20303	-1.006000	0.02489	GCT		TCGA-IB-7651-01A-11D-2154-08	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	1	0	0	32	324	0	69	0	0	1	0	0	69	2		0	0	0	0	0	2	1	1	32	319	0	69	2								-10.850420	1	1	121412	77	50	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.730000	1.000000	1.000000	0.958766	0.990000	1	8.800000e-01	1
NPAS3	64067	broad.mit.edu	37	14	34029338	34029338	+	Silent	SNP	C	C	T	rs144736542		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34029338C>T	ENST00000356141.4	+	5	480	c.480C>T	c.(478-480)ggC>ggT	p.G160G	NPAS3_ENST00000341321.4_Silent_p.G160G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000551492.1_Silent_p.G165G|NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000346562.2_Silent_p.G128G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3			40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)		CCCTGGATGGCTTTGTATTTG	0.318000																								0							SO:0001819	synonymous_variant			ENST00000356141.4	1	1	hg19	CCDS53891.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	1	0	1	70	278	0	32	0	4.161172e-02	0	2	0	32	2		0	0	0	0	0	2	1	1	70	274	0	31	2								-3.584332	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPAS3	64067	broad.mit.edu	37	14	34269138	34269138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269138C>T	ENST00000356141.4	+	12	1625	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V|NPAS3_ENST00000346562.2_Missense_Mutation_p.A510V			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3			40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)		AACCCCAAGGCGGGCGAGGAC	0.632000																								0							SO:0001583	missense			ENST00000356141.4	1	1	hg19	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187001	0.57909	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71698	-0.59;3.25;3.25;3.25;3.25;3.11	5.14	3.29	0.37713	.	0.261252	0.37012	N	0.002292	T	0.52075	0.1712	N	0.08118	0	0.80722	D	1	D;P;D;D	0.54601	0.967;0.944;0.967;0.967	P;B;P;P	0.46026	0.501;0.304;0.501;0.501	T	0.52895	-0.8514	10	0.46703	T	0.11	.	9.3778	0.38295	0.0:0.6552:0.2712:0.0736	.	512;542;510;529	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	516;547;510;512;542;529	ENSP00000448373:A516V;ENSP00000450392:A547V;ENSP00000319610:A510V;ENSP00000448916:A512V;ENSP00000348460:A542V;ENSP00000350446:A529V	ENSP00000319610:A510V	A	+	2	0	NPAS3	33338889	0.936000	0.31750	0.942000	0.38095	0.980000	0.70556	1.980000	0.40618	0.531000	0.28639	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	1	0	1	53	231	0	36	0	1.639970e-01	0	4	0	36	2		0	0	0	0	0	2	1	1	53	225	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPAS3	64067	broad.mit.edu	37	14	34269619	34269619	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269619C>T	ENST00000356141.4	+	12	2106	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G|NPAS3_ENST00000551492.1_Silent_p.G707G|NPAS3_ENST00000346562.2_Silent_p.G670G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3			40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)		GTGGGGGTGGCGGTGGCGGGG	0.741000																								0							SO:0001819	synonymous_variant			ENST00000356141.4	1	1	hg19	CCDS53891.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	1	0	0	49	154	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	1	48	152	0	17	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EAPP	55837	broad.mit.edu	37	14	34985588	34985588	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34985588A>G	ENST00000250454.3	-	6	867	c.786T>C	c.(784-786)tgT>tgC	p.C262C		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein			12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)		CTTCAGTGGAACATTCAGTGC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000250454.3	1	1	hg19	CCDS41941.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	1	0	1	64	792	0	157	1	9.999999e-01	50	238	0	157	2		0	0	0	0	0	2	1	1	64	775	0	156	2								-13.393650	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.870000	0.680000	1.000000	1.000000	0.874445	0.870000	1	7.700000e-01	9.800000e-01
SNX6	58533	broad.mit.edu	37	14	35036896	35036896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35036896G>A	ENST00000362031.4	-	13	1229	c.1199C>T	c.(1198-1200)gCa>gTa	p.A400V	SNX6_ENST00000396534.3_Missense_Mutation_p.A272V|SNX6_ENST00000396526.3_Missense_Mutation_p.A272V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6			6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)		CACTACCTTTGCATGCTTCAG	0.289000																								0							SO:0001583	missense			ENST00000362031.4	1	1	hg19	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491920	0.84962	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.9	4.0	0.46444	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.87456	2.885	0.80722	D	1	B;B	0.28291	0.114;0.206	B;B	0.30572	0.055;0.117	T	0.70163	-0.4947	10	0.87932	D	0	-14.5445	14.1526	0.65395	0.0743:0.0:0.9257:0.0	.	276;388	B4DJS7;Q9UNH7	.;SNX6_HUMAN	V	272;272;400;276	ENSP00000379779:A272V;ENSP00000379785:A272V;ENSP00000355217:A400V;ENSP00000347230:A276V	ENSP00000347230:A276V	A	-	2	0	SNX6	34106647	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.763000	0.85283	1.386000	0.46466	0.557000	0.71058	GCA		TCGA-IB-7651-01A-11D-2154-08	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3	1	0	1	41	182	0	13	1	1	122	345	0	13	2		0	0	0	0	0	2	1	1	41	177	0	12	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX6	58533	broad.mit.edu	37	14	35078930	35078930	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35078930C>A	ENST00000362031.4	-	3	139	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6			6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)		CTTTGAAGATCTACATTTATT	0.313000																								0							SO:0001583	missense			ENST00000362031.4	0	1	hg19	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756702	0.49362	.	.	ENSG00000129515	ENST00000362031;ENST00000557265;ENST00000555648	T;T	0.61742	2.03;0.08	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78386	-0.2224	10	0.87932	D	0	-17.3526	18.0431	0.89324	0.0:1.0:0.0:0.0	.	25	Q9UNH7	SNX6_HUMAN	Y	37;37;55	ENSP00000355217:D37Y;ENSP00000452577:D37Y	ENSP00000355217:D37Y	D	-	1	0	SNX6	34148681	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.609000	0.82925	2.432000	0.82394	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3	0	0	0	8	313	0	63	1	9.388933e-01	11	183	0	63	2		0	0	0	0	0	2	1	9.890504e-01	8	309	0	63	2								-3.275952	1	1	120812	1	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.300000	0.140000	0.540000	0.290000	0.321339	0.300000	0	2.100000e-01	4.200000e-01
BAZ1A	11177	broad.mit.edu	37	14	35245537	35245537	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35245537G>A	ENST00000382422.2	-	17	2748	c.2421C>T	c.(2419-2421)cgC>cgT	p.R807R	BAZ1A_ENST00000358716.4_Silent_p.R775R|BAZ1A_ENST00000360310.1_Silent_p.R807R			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A			48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)		ACATGCGGTCGCGACCCAAGG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000382422.2	1	1	hg19	CCDS9651.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1	1	0	1	101	481	0	110	1	9.999849e-01	22	55	0	110	2		0	0	0	0	0	2	1	1	100	471	0	110	2								-20.000000	1	1	121412	3	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRP54	6729	broad.mit.edu	37	14	35483956	35483956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35483956G>A	ENST00000556994.1	+	12	1290	c.893G>A	c.(892-894)gGc>gAc	p.G298D	SRP54_ENST00000216774.6_Missense_Mutation_p.G298D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D|SRP54_ENST00000546080.1_Missense_Mutation_p.G249D			P61011	SRP54_HUMAN	signal recognition particle 54kDa			14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)		ATAGGTATGGGCGACATTGAA	0.328000																								0							SO:0001583	missense			ENST00000556994.1	1	1	hg19	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181701	0.94885	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.85	5.85	0.93711	Signal recognition particle, SRP54 subunit, M-domain (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91923	0.5549	9	0.87932	D	0	-6.511	20.1606	0.98132	0.0:0.0:1.0:0.0	.	249;298	B4DUW6;P61011	.;SRP54_HUMAN	D	298;298;249;234	.	ENSP00000216774:G298D	G	+	2	0	SRP54	34553707	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.382000	0.97209	2.772000	0.95346	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	1	0	1	72	379	0	86	1	1	49	222	0	86	2		0	0	0	0	0	2	1	1	70	373	0	86	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0391	9692	broad.mit.edu	37	14	35593373	35593373	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35593373C>T	ENST00000557565.1	+	2	1303	c.922C>T	c.(922-924)Cta>Tta	p.L308L	KIAA0391_ENST00000534898.4_Silent_p.L308L|KIAA0391_ENST00000250377.7_Silent_p.L213L|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Silent_p.L308L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000604948.1_Silent_p.L213L|PPP2R3C_ENST00000555644.1_5'Flank|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391			14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)		TCTTTCATATCTAAGAAATAA	0.279000																								0							SO:0001819	synonymous_variant			ENST00000557565.1	1	0	hg19	CCDS32063.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	0	0	1	46	184	0	36	1	9.998673e-01	13	44	0	36	2		0	0	0	0	0	2	1	1	45	174	0	36	2								-20.000000	1	1	121214	2	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0391	9692	broad.mit.edu	37	14	35735990	35735990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35735990C>T	ENST00000557565.1	+	6	1714	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391			14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)		GGTCCTAGGCCGGAAGCACAT	0.478000																								0							SO:0001583	missense			ENST00000557565.1	1	0	hg19	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972826	0.74246	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912;ENST00000557404	T;T;T;T	0.55588	0.58;0.51;0.52;0.83	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.88181	2.935	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-8.7734	12.7785	0.57464	0.2972:0.7028:0.0:0.0	.	429;445	O15091-2;O15091	.;MRRP3_HUMAN	W	350;350;429;445;429;73;73	ENSP00000250377:R350W;ENSP00000324697:R429W;ENSP00000440915:R445W;ENSP00000450898:R73W	ENSP00000250377:R350W	R	+	1	2	KIAA0391	34805741	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.588000	0.53964	1.369000	0.46134	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	0	0	1	137	541	1	160	1	9.999866e-01	20	67	1	160	4		0	0	0	0	0	2	1	1	135	534	0	159	2								-3.382727	1	1	121412	1	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMA6	5687	broad.mit.edu	37	14	35761742	35761742	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35761742T>C	ENST00000261479.4	+	1	180	c.60T>C	c.(58-60)ggT>ggC	p.G20G	PSMA6_ENST00000556506.1_Silent_p.G20G|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000555764.1_5'UTR|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000553809.1_Silent_p.G20G	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6			10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)		CACCCGAGGGTCGGCTCTACC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000261479.4	1	1	hg19	CCDS9655.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1	0	0	0	19	483	0	92	1	9.999999e-01	53	737	0	92	2		0	0	0	0	0	2	1	9.999893e-01	19	475	0	91	2								-18.031510	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.440000	0.270000	0.660000	0.430000	0.460242	0.440000	0	3.500000e-01	5.600000e-01
PSMA6	5687	broad.mit.edu	37	14	35783581	35783581	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35783581C>T	ENST00000261479.4	+	6	723	c.603C>T	c.(601-603)tgC>tgT	p.C201C	PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000555764.1_Silent_p.C122C|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Silent_p.C182C|PSMA6_ENST00000553809.1_Silent_p.C207C	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6			10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)		CAATTACATGCCTGTCTACTG	0.323000																								0							SO:0001819	synonymous_variant			ENST00000261479.4	0	1	hg19	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	C	1.921	-0.448254	0.04572	.	.	ENSG00000100902	ENST00000556221	.	.	.	5.55	1.72	0.24424	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-13.0287	9.2121	0.37324	0.0:0.5445:0.0:0.4555	.	.	.	.	V	40	.	.	A	+	2	0	PSMA6	34853332	0.972000	0.33761	0.997000	0.53966	0.995000	0.86356	0.247000	0.18179	0.112000	0.17975	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1	1	0	1	23	148	0	31	1	1	165	509	0	31	2		0	0	0	0	0	2	1	9.999995e-01	23	143	0	31	2								-12.308770	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998639	0.990000	1	9.900000e-01	1
NFKBIA	4792	broad.mit.edu	37	14	35872963	35872963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35872963G>A	ENST00000216797.5	-	2	370	c.269C>T	c.(268-270)aCc>aTc	p.T90I	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.T90I	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha			7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	Acetylsalicylic acid(DB00945)	CACTTCCATGGTCAGTGCCTT	0.607000																								0							SO:0001583	missense			ENST00000216797.5	1	1	hg19	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739977	0.69304	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	T;T;T	0.78924	-0.01;-0.01;-1.22	5.93	5.93	0.95920	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.57051	0.2027	N	0.04508	-0.205	0.80722	D	1	B;B	0.22211	0.053;0.066	B;B	0.24974	0.019;0.057	T	0.55673	-0.8104	9	0.37606	T	0.19	-17.6661	9.3287	0.38008	0.0777:0.1894:0.7329:0.0	.	90;90	G3V3I4;P25963	.;IKBA_HUMAN	I	90;90;66	ENSP00000216797:T90I;ENSP00000451257:T90I;ENSP00000451281:T66I	ENSP00000216797:T90I	T	-	2	0	NFKBIA	34942714	0.991000	0.36638	0.999000	0.59377	0.963000	0.63663	2.637000	0.46553	2.814000	0.96858	0.563000	0.77884	ACC		TCGA-IB-7651-01A-11D-2154-08	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	1	0	1	26	114	0	19	1	1	48	368	0	19	2		0	0	0	0	0	2	1	1	26	111	0	18	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
INSM2	84684	broad.mit.edu	37	14	36004387	36004387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004387G>A	ENST00000307169.3	+	1	1140	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2			10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)		GCCTCCCATCGCCGCTGGCAT	0.682000																								0							SO:0001583	missense			ENST00000307169.3	1	1	hg19	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964553	0.92791	.	.	ENSG00000168348	ENST00000307169	T	0.52057	0.68	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32655	N	0.005812	T	0.60431	0.2268	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63571	-0.6607	10	0.62326	D	0.03	-21.8935	16.9569	0.86262	0.0:0.0:1.0:0.0	.	310	Q96T92	INSM2_HUMAN	H	310	ENSP00000306523:R310H	ENSP00000306523:R310H	R	+	2	0	INSM2	35074138	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.351000	0.97073	2.269000	0.75478	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1	0	0	1	33	292	1	51		0	0	0	1	51	2		0	0	0	0	0	2	1	9.733907e-01	33	287	1	51	20								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.840000	1.000000	1.000000	0.987033	0.990000	1	9.900000e-01	1
INSM2	84684	broad.mit.edu	37	14	36004916	36004916	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004916G>A	ENST00000307169.3	+	1	1669	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2			10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)		ATATCAGGGAGAAGCACCGGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000307169.3	1	1	hg19	CCDS9657.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1	0	0	1	59	272	1	59		0	0	0	1	59	2		0	0	0	0	0	2	1	9.999997e-01	59	271	1	58	19								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGAPA1	253959	broad.mit.edu	37	14	36041836	36041836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36041836C>T	ENST00000389698.3	-	37	6170	c.5780G>A	c.(5779-5781)gGt>gAt	p.G1927D	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1974D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)			67					AAGGACATCACCAAATTCTGT	0.348000																								0							SO:0001583	missense			ENST00000389698.3	0	1	hg19	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715974|4.715974	0.89205|0.89205	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.93763|.	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71187|0.71187	0.3310|0.3310	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.992;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.928;0.998|.	T|T	0.69038|0.69038	-0.5251|-0.5251	10|5	0.42905|.	T|.	0.14|.	-13.561|-13.561	18.6419|18.6419	0.91398|0.91398	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1974;1940;1927;1927|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	D|M	1927;1927;1927;1974;565;1940;1974|210	ENSP00000374348:G1927D;ENSP00000302647:G1927D;ENSP00000258840:G1974D;ENSP00000451133:G565D;ENSP00000371803:G1940D;ENSP00000451877:G1974D|.	ENSP00000258840:G1974D|.	G|V	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35111587|35111587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.403000|2.403000	0.81681|0.81681	0.460000|0.460000	0.39030|0.39030	GGT|GTG		TCGA-IB-7651-01A-11D-2154-08	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	1	0	1	71	304	0	74	1	7.732012e-01	5	9	0	74	2		0	0	0	0	0	2	1	1	71	297	0	81	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGAPA1	253959	broad.mit.edu	37	14	36143867	36143867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36143867G>T	ENST00000389698.3	-	22	3545	c.3155C>A	c.(3154-3156)aCt>aAt	p.T1052N	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.T1099N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)			67					TCCAGTCAGAGTACCTCCTGC	0.373000																								0							SO:0001583	missense			ENST00000389698.3	1	1	hg19	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046533	0.36085	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.32	5.32	0.75619	.	0.061056	0.64402	D	0.000002	T	0.69124	0.3076	L	0.46157	1.445	0.58432	D	0.999992	P;B;P;B	0.47545	0.897;0.047;0.763;0.104	P;B;B;B	0.47206	0.541;0.04;0.173;0.024	T	0.64757	-0.6332	10	0.09590	T	0.72	-15.642	19.0012	0.92834	0.0:0.0:1.0:0.0	.	1099;1065;1052;1052	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	N	1052;1052;1052;1099;1065;1099	ENSP00000374348:T1052N;ENSP00000302647:T1052N;ENSP00000258840:T1099N;ENSP00000371803:T1065N;ENSP00000451877:T1099N	ENSP00000258840:T1099N	T	-	2	0	RALGAPA1	35213618	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.522000	0.73783	2.466000	0.83321	0.591000	0.81541	ACT		TCGA-IB-7651-01A-11D-2154-08	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	1	0	1	39	141	0	37	1	9.049742e-01	6	11	0	37	2		0	0	0	0	0	2	1	1	37	137	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGAPA1	253959	broad.mit.edu	37	14	36154173	36154173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36154173G>T	ENST00000389698.3	-	19	3128	c.2738C>A	c.(2737-2739)tCt>tAt	p.S913Y	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S960Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)			67					AGCGCTGAAAGAATCCGAATG	0.433000																								0							SO:0001583	missense			ENST00000389698.3	1	1	hg19	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589901	0.86851	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.95035	-3.54;-3.54;-3.59;-3.59;-3.59	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	L	0.32530	0.975	0.58432	D	0.999995	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.996	D;D;D;D;P	0.87578	0.997;0.991;0.998;0.996;0.896	D	0.95649	0.8705	10	0.54805	T	0.06	-15.9621	20.3593	0.98849	0.0:0.0:1.0:0.0	.	960;926;960;913;913	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	Y	913;913;913;960;926;960	ENSP00000374348:S913Y;ENSP00000302647:S913Y;ENSP00000258840:S960Y;ENSP00000371803:S926Y;ENSP00000451877:S960Y	ENSP00000258840:S960Y	S	-	2	0	RALGAPA1	35223924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.822000	0.97130	0.557000	0.71058	TCT		TCGA-IB-7651-01A-11D-2154-08	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	1	0	1	21	98	0	29	1	8.660339e-01	4	15	0	29	2		0	0	0	0	0	2	1	9.999986e-01	21	96	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999875	0.990000	1	9.900000e-01	1
BRMS1L	84312	broad.mit.edu	37	14	36295809	36295809	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36295809C>T	ENST00000216807.7	+	1	286	c.87C>T	c.(85-87)agC>agT	p.S29S	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like			9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)		AGGGGAGCAGCTCCGAGGACG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000216807.7	1	1	hg19	CCDS32066.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	1	0	1	16	77	0	20	1	9.413338e-01	5	21	0	20	2		0	0	0	0	0	2	1	9.999610e-01	16	77	0	20	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999346	0.990000	1	9.900000e-01	1
NKX2-1	7080	broad.mit.edu	37	14	36986961	36986961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36986961C>T	ENST00000518149.1	-	3	1243	c.638G>A	c.(637-639)cGc>cAc	p.R213H	NKX2-1_ENST00000522719.2_Missense_Mutation_p.R213H|NKX2-1_ENST00000354822.5_Missense_Mutation_p.R243H|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.R213H|NKX2-1-AS1_ENST00000521292.2_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1			7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)		CATTTTGTAGCGGTGGTTCTG	0.672000			A		NSCLC										Dom	yes		14	14q13	7080	NK2 homeobox 1		E	0							SO:0001583	missense			ENST00000518149.1	1	0	hg19	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704399	0.88924	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5	4.39	4.39	0.52855	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.99764	4.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	D	0.96931	0.9681	10	0.87932	D	0	.	16.9385	0.86209	0.0:1.0:0.0:0.0	.	243;213	P43699-3;P43699	.;NKX21_HUMAN	H	243;213;213;213	ENSP00000346879:R243H;ENSP00000429607:R213H;ENSP00000428341:R213H;ENSP00000429519:R213H	ENSP00000346879:R243H	R	-	2	0	NKX2-1	36056712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.639000	0.83342	2.005000	0.58758	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	1	0	0	10	88	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.967529e-01	10	84	0	24	2								-6.928349	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.620000	1.000000	1.000000	0.952447	0.990000	1	8.700000e-01	1
NKX2-8	26257	broad.mit.edu	37	14	37050665	37050665	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37050665C>T	ENST00000258829.5	-	2	379	c.162G>A	c.(160-162)tcG>tcA	p.S54S		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8			1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)		TGCTCTCGTCCGAGGCTAGGG	0.706000																								0							SO:0001819	synonymous_variant			ENST00000258829.5	0	1	hg19	CCDS9660.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071844.6	1	0	0	9	56	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.937312e-01	9	52	0	8	2								-16.661090	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.780000	1.000000	1.000000	0.985974	0.990000	1	9.900000e-01	1
PAX9	5083	broad.mit.edu	37	14	37132272	37132272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132272C>T	ENST00000361487.6	+	2	400	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*			P55771	PAX9_HUMAN	paired box 9			12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)		GATCCTGGCGCGATACAACGA	0.642000																								0		GRCh37	CM077220	PAX9	M		SO:0001587	stop_gained			ENST00000361487.6	0	1	hg19	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	43	9.951174	0.99303	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	5.11	5.11	0.69529	.	0.054030	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5219	0.90956	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000355245:R59X	R	+	1	2	PAX9	36202023	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.876000	0.63079	2.383000	0.81215	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2	1	0	1	40	306	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	38	302	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.980000	1.000000	1.000000	0.998370	0.990000	1	9.900000e-01	1
PAX9	5083	broad.mit.edu	37	14	37132689	37132689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132689G>A	ENST00000361487.6	+	2	817	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	PAX9_ENST00000554201.1_Missense_Mutation_p.V11I|PAX9_ENST00000402703.2_Missense_Mutation_p.V198I			P55771	PAX9_HUMAN	paired box 9			12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)		CTCGCACTCCGTCACCGACAT	0.716000																								0							SO:0001583	missense			ENST00000361487.6	1	1	hg19	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561606	0.86335	.	.	ENSG00000198807	ENST00000402703;ENST00000361487;ENST00000554201	D;D;T	0.99353	-5.77;-5.77;0.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.99683	1.0999	10	0.37606	T	0.19	.	18.8295	0.92132	0.0:0.0:1.0:0.0	.	198	P55771	PAX9_HUMAN	I	198;198;11	ENSP00000384817:V198I;ENSP00000355245:V198I;ENSP00000450434:V11I	ENSP00000355245:V198I	V	+	1	0	PAX9	36202440	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.861000	0.99562	2.445000	0.82738	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2	1	0	1	84	344	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	82	334	0	54	2								-3.396324	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A21	89874	broad.mit.edu	37	14	37194861	37194861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37194861C>T	ENST00000331299.5	-	6	867	c.352G>A	c.(352-354)Gga>Aga	p.G118R	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21			9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)		AGTCCAGATCCCAATCCAGCA	0.358000																								0							SO:0001583	missense			ENST00000331299.5	1	1	hg19	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440300	0.63067	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79033	-1.23;-1.23	5.43	5.43	0.79202	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	H	0.95004	3.61	0.80722	D	1	D	0.58620	0.983	D	0.66497	0.944	D	0.90820	0.4708	10	0.31617	T	0.26	-10.3573	19.3129	0.94198	0.0:1.0:0.0:0.0	.	118	Q9BQT8	ODC_HUMAN	R	118	ENSP00000451873:G118R;ENSP00000329452:G118R	ENSP00000329452:G118R	G	-	1	0	SLC25A21	36264612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.937000	0.70162	2.565000	0.86533	0.644000	0.83932	GGA		TCGA-IB-7651-01A-11D-2154-08	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	1	0	1	59	244	0	53	0	3.921569e-02	0	2	0	53	2		0	0	0	0	0	2	1	1	57	243	0	53	2								-3.321060	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MIPOL1	145282	broad.mit.edu	37	14	37737973	37737973	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37737973A>G	ENST00000327441.7	+	6	828	c.362A>G	c.(361-363)gAt>gGt	p.D121G	MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000536774.1_Intron	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1			23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)		AAAGAATTGGATATTCTCAGA	0.313000																								0							SO:0001583	missense			ENST00000327441.7	1	1	hg19	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442142	0.83993	.	.	ENSG00000151338	ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.56776	0.48;0.48;0.44;0.48;0.48;0.44	5.51	5.51	0.81932	.	0.243144	0.39146	N	0.001447	T	0.58935	0.2157	L	0.48642	1.525	0.80722	D	1	P;P	0.51449	0.57;0.945	B;P	0.52909	0.364;0.713	T	0.60146	-0.7320	10	0.49607	T	0.09	-2.1235	15.2974	0.73919	1.0:0.0:0.0:0.0	.	121;90	Q8TD10;Q49AL5	MIPO1_HUMAN;.	G	121;90;90;121;121;121;90	ENSP00000333539:D121G;ENSP00000438319:D90G;ENSP00000450479:D90G;ENSP00000379589:D121G;ENSP00000444254:D121G;ENSP00000442529:D90G	ENSP00000333539:D121G	D	+	2	0	MIPOL1	36807724	1.000000	0.71417	0.972000	0.41901	0.910000	0.53928	5.720000	0.68470	2.084000	0.62774	0.482000	0.46254	GAT		TCGA-IB-7651-01A-11D-2154-08	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	1	0	0	36	399	0	126	1	5.835196e-01	2	21	0	126	2		0	0	0	0	0	2	1	1	35	387	0	125	2								-10.759880	1	1	121362	1	28	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.960000	0.690000	1.000000	1.000000	0.928091	0.960000	1	8.200000e-01	1
MIPOL1	145282	broad.mit.edu	37	14	38016120	38016120	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38016120C>T	ENST00000327441.7	+	14	1739	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	MIPOL1_ENST00000396294.2_Silent_p.L425L|MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000539062.2_Silent_p.L394L|MIPOL1_ENST00000536774.1_Silent_p.L244L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1			23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)		GTTGGAAAGGCTGGTGGATGT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000327441.7	1	1	hg19	CCDS9664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	1	0	1	21	116	0	40	0	7.586441e-01	1	16	0	40	2		0	0	0	0	0	2	1	9.999981e-01	21	112	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999499	0.990000	1	9.900000e-01	1
FOXA1	3169	broad.mit.edu	37	14	38061834	38061834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38061834G>A	ENST00000250448.2	-	2	216	c.155C>T	c.(154-156)aCc>aTc	p.T52I	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1			19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)		CGTAGTCATGGTGTTCATGGT	0.612000																								0							SO:0001583	missense			ENST00000250448.2	1	1	hg19	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949068	0.53186	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19394	2.15;2.15	4.16	4.16	0.48862	Fork-head N-terminal (1);	1.164010	0.06577	N	0.749592	T	0.22166	0.0534	N	0.22421	0.69	0.45946	D	0.998773	P	0.37914	0.611	B	0.39617	0.305	T	0.15321	-1.0441	10	0.66056	D	0.02	.	16.2573	0.82524	0.0:0.0:1.0:0.0	.	52	P55317	FOXA1_HUMAN	I	52;19	ENSP00000250448:T52I;ENSP00000440178:T19I	ENSP00000250448:T52I	T	-	2	0	FOXA1	37131585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.830000	0.55768	2.135000	0.66039	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1	1	0	1	101	465	0	105	1	8.311367e-01	11	6	0	105	2		0	0	0	0	0	2	1	1	101	461	0	105	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR1	6751	broad.mit.edu	37	14	38678962	38678962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38678962G>A	ENST00000267377.2	+	3	985	c.368G>A	c.(367-369)tGg>tAg	p.W123*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1			29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	Octreotide(DB00104)|Pasireotide(DB06663)	TTGCGCCACTGGCCCTTCGGT	0.587000																								0							SO:0001587	stop_gained			ENST00000267377.2	0	1	hg19	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	42	9.702552	0.99242	.	.	ENSG00000139874	ENST00000267377	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000267377:W123X	W	+	2	0	SSTR1	37748713	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.623000	0.98386	2.583000	0.87209	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2	0	0	1	205	881	0	184	0	3.185128e-01	0	6	0	184	2		0	0	0	0	0	2	1	1	201	863	0	184	2								-3.406998	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR1	6751	broad.mit.edu	37	14	38679130	38679130	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38679130T>C	ENST00000267377.2	+	3	1153	c.536T>C	c.(535-537)cTg>cCg	p.L179P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1			29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	Octreotide(DB00104)|Pasireotide(DB06663)	GTAGTAAACCTGGGCGTGTGG	0.642000																								0							SO:0001583	missense			ENST00000267377.2	1	1	hg19	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370844	0.61624	.	.	ENSG00000139874	ENST00000267377	T	0.42513	0.97	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000320	T	0.61299	0.2336	M	0.78344	2.41	0.80722	D	1	D	0.54207	0.965	P	0.60886	0.88	T	0.64449	-0.6405	10	0.48119	T	0.1	.	13.7174	0.62705	0.0:0.0:0.0:1.0	.	179	P30872	SSR1_HUMAN	P	179	ENSP00000267377:L179P	ENSP00000267377:L179P	L	+	2	0	SSTR1	37748881	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.923000	0.56469	2.034000	0.60081	0.459000	0.35465	CTG		TCGA-IB-7651-01A-11D-2154-08	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2	1	0	1	73	303	0	60	0	3.874021e-02	0	2	0	60	2	0	0	0	1	0	0	2	1	1	73	298	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC14A	161198	broad.mit.edu	37	14	38724293	38724293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724293C>T	ENST00000342213.2	-	1	1281	c.935G>A	c.(934-936)aGc>aAc	p.S312N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A			33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)		CGGCACGGGGCTGGTTGCAGT	0.627000																								0							SO:0001583	missense			ENST00000342213.2	1	1	hg19	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275745	0.40294	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.75050	-0.9	3.86	2.96	0.34315	.	.	.	.	.	T	0.64271	0.2583	L	0.32530	0.975	0.09310	N	1	P	0.40731	0.728	B	0.40477	0.33	T	0.55153	-0.8185	9	0.49607	T	0.09	-6.6257	9.6415	0.39842	0.0:0.7883:0.2117:0.0	.	312	Q86T13	CLC14_HUMAN	N	312;77	ENSP00000353013:S312N	ENSP00000353013:S312N	S	-	2	0	CLEC14A	37794044	0.479000	0.25925	0.039000	0.18376	0.008000	0.06430	-0.026000	0.12392	1.192000	0.43071	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	1	0	1	140	654	0	103	0	9.994628e-01	0	53	0	103	2		0	0	0	0	0	2	1	1	136	640	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC14A	161198	broad.mit.edu	37	14	38724527	38724527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724527C>T	ENST00000342213.2	-	1	1047	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A			33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)		TTTGTCCCAGCGAGCGCCGAT	0.627000																								0							SO:0001583	missense			ENST00000342213.2	1	1	hg19	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984154	0.02180	.	.	ENSG00000176435	ENST00000342213	T	0.74632	-0.86	4.02	-3.59	0.04583	.	.	.	.	.	T	0.46795	0.1411	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35968	-0.9767	9	0.09338	T	0.73	-5.413	7.5425	0.27746	0.0:0.2669:0.1305:0.6025	.	234	Q86T13	CLC14_HUMAN	H	234	ENSP00000353013:R234H	ENSP00000353013:R234H	R	-	2	0	CLEC14A	37794278	0.072000	0.21174	0.026000	0.17262	0.011000	0.07611	-0.732000	0.04904	-0.835000	0.04234	-0.216000	0.12614	CGC		TCGA-IB-7651-01A-11D-2154-08	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	1	0	1	307	1128	0	219	0	9.999983e-01	0	69	0	219	2		0	0	0	0	0	2	1	1	303	1108	0	216	2								-20.000000	1	0	121382	3	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC14A	161198	broad.mit.edu	37	14	38724650	38724650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724650C>T	ENST00000342213.2	-	1	924	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A			33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)		GAAGGGCGCGCGATAGCTCAA	0.647000																								0							SO:0001583	missense			ENST00000342213.2	1	1	hg19	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531589	0.64972	.	.	ENSG00000176435	ENST00000342213	T	0.74526	-0.85	4.13	1.2	0.21068	.	0.742908	0.11393	N	0.568573	T	0.55081	0.1898	N	0.24115	0.695	0.27874	N	0.939923	B	0.28082	0.2	B	0.21917	0.037	T	0.47935	-0.9078	10	0.51188	T	0.08	-3.0414	4.3188	0.11007	0.181:0.6143:0.0:0.2047	.	193	Q86T13	CLC14_HUMAN	H	193	ENSP00000353013:R193H	ENSP00000353013:R193H	R	-	2	0	CLEC14A	37794401	0.009000	0.17119	0.980000	0.43619	0.982000	0.71751	-0.147000	0.10234	0.268000	0.21939	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	1	0	1	126	496	0	83	0	9.999966e-01	0	72	0	83	2		0	0	0	0	0	2	1	1	125	489	0	82	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC14A	161198	broad.mit.edu	37	14	38724747	38724747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724747G>A	ENST00000342213.2	-	1	827	c.481C>T	c.(481-483)Cga>Tga	p.R161*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A			33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)		AGGTGGCATCGCATCTCCTTC	0.682000																								0							SO:0001587	stop_gained			ENST00000342213.2	0	1	hg19	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	39	7.498348	0.98322	.	.	ENSG00000176435	ENST00000342213	.	.	.	3.91	3.0	0.34707	.	0.665335	0.12618	N	0.453257	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4128	10.4834	0.44706	0.0:0.0:0.7906:0.2093	.	.	.	.	X	161	.	ENSP00000353013:R161X	R	-	1	2	CLEC14A	37794498	0.021000	0.18746	0.874000	0.34290	0.844000	0.47949	0.324000	0.19610	1.194000	0.43101	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	0	0	0	8	333	0	68	0	3.093820e-01	0	43	0	68	2		0	0	0	0	0	2	1	9.893244e-01	8	331	0	67	2								-7.923264	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.280000	0.130000	0.510000	0.270000	0.302881	0.280000	0	1.900000e-01	4.000000e-01
SEC23A	10484	broad.mit.edu	37	14	39510075	39510075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39510075C>T	ENST00000307712.6	-	18	2520	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q|SEC23A_ENST00000537403.1_Missense_Mutation_p.R466Q|SEC23A_ENST00000545328.2_Missense_Mutation_p.R639Q	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)			23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)		TCCTGACTTCCGCCACTGTGC	0.373000																								0							SO:0001583	missense			ENST00000307712.6	0	1	hg19	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012533	0.75161	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.75	5.75	0.90469	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	H	0.94462	3.54	0.80722	D	1	B;B;B	0.26147	0.143;0.105;0.078	B;B;B	0.27380	0.065;0.077;0.079	T	0.69950	-0.5006	10	0.66056	D	0.02	-14.0486	13.1859	0.59680	0.0:0.9274:0.0:0.0726	.	639;566;668	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	Q	466;668;566;639	ENSP00000444193:R466Q;ENSP00000306881:R668Q;ENSP00000437715:R566Q;ENSP00000445393:R639Q	ENSP00000306881:R668Q	R	-	2	0	SEC23A	38579826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.846000	0.62860	2.719000	0.93026	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2	0	0	0	51	158	0	42	1	1	49	220	0	42	2		0	0	0	0	0	2	1	1	49	153	0	41	2								-4.494828	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNN	5411	broad.mit.edu	37	14	39650344	39650344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650344G>A	ENST00000216832.4	+	9	1498	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein			27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)		CTcaacctcagcctcagtctc	0.502000																								0							SO:0001819	synonymous_variant			ENST00000216832.4	1	1	hg19	CCDS9671.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	1	0	1	59	250	0	57	1	1	68	159	0	57	2		0	0	0	0	0	2	1	1	56	243	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNN	5411	broad.mit.edu	37	14	39650731	39650731	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650731T>C	ENST00000216832.4	+	9	1885	c.1818T>C	c.(1816-1818)agT>agC	p.S606S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein			27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)		gtcgcagtagttccagtagca	0.512000																								0							SO:0001819	synonymous_variant			ENST00000216832.4	1	1	hg19	CCDS9671.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	1	0	1	11	76	0	29	1	9.999999e-01	68	227	0	29	2		0	0	0	0	0	2	1	9.981843e-01	11	71	0	29	2								-18.720440	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.780000	1.000000	1.000000	0.985326	0.990000	1	9.900000e-01	1
MIA2	117153	broad.mit.edu	37	14	39706205	39706205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39706205G>T	ENST00000280082.3	+	2	394	c.195G>T	c.(193-195)gaG>gaT	p.E65D	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E65D|MIA2_ENST00000556784.1_Missense_Mutation_p.E65D	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2			31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)		AGGGAGAAGAGATATCTGTTT	0.363000																								0							SO:0001583	missense			ENST00000280082.3	1	0	hg19	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799117	0.70567	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.26	2.41	0.29592	.	0.000000	0.38548	N	0.001651	T	0.81029	0.4738	L	0.39898	1.24	0.31873	N	0.61949	D	0.89917	1.0	D	0.77004	0.989	T	0.77536	-0.2551	9	.	.	.	-13.5182	4.4414	0.11575	0.3:0.0:0.5536:0.1464	.	65	Q96PC5-2	.	D	65	ENSP00000451883:E65D;ENSP00000451217:E65D;ENSP00000280082:E65D;ENSP00000451934:E65D;ENSP00000452252:E65D	.	E	+	3	2	MIA2;RP11-407N17.3	38775956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.637000	0.24659	0.223000	0.20920	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	1	0	1	33	177	0	45	1	8.765315e-01	10	12	0	45	2		0	0	0	0	0	2	1	1	33	175	0	44	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
LRFN5	145581	broad.mit.edu	37	14	42356113	42356113	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356113C>T	ENST00000298119.4	+	3	1474	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_ENST00000554171.1_Silent_p.F95F|LRFN5_ENST00000554120.1_Silent_p.F95F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5			120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)		CTCATGCTTTCGCTGACCTAC	0.348000										HNSCC(30;0.082)														0							SO:0001819	synonymous_variant			ENST00000298119.4	1	1	hg19	CCDS9678.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1	40	247	0	48	0	1.513245e-01	0	5	0	48	2		0	0	0	0	0	2	1	1	38	244	0	48	2								-2.843630	1	1	121412	12	41	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356347G>A	ENST00000298119.4	+	3	1708	c.519G>A	c.(517-519)ttG>ttA	p.L173L	LRFN5_ENST00000554171.1_Silent_p.L173L|LRFN5_ENST00000554120.1_Silent_p.L173L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5			120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)		TGGTTAGCTTGCATACCCTTA	0.413000										HNSCC(30;0.082)														0							SO:0001819	synonymous_variant			ENST00000298119.4	1	1	hg19	CCDS9678.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1	43	175	0	41	0	4.072398e-02	0	2	0	41	2		0	0	0	0	0	2	1	1	42	172	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRFN5	145581	broad.mit.edu	37	14	42356731	42356731	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356731A>G	ENST00000298119.4	+	3	2092	c.903A>G	c.(901-903)ggA>ggG	p.G301G	LRFN5_ENST00000554171.1_Silent_p.G301G|LRFN5_ENST00000554120.1_Silent_p.G301G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5			120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)		TCCTGGAGGGACAAAGGGCAA	0.468000										HNSCC(30;0.082)														0							SO:0001819	synonymous_variant			ENST00000298119.4	1	1	hg19	CCDS9678.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1	104	417	0	81	0	4.061273e-02	0	2	0	81	2		0	0	0	0	0	2	1	1	101	409	0	80	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRFN5	145581	broad.mit.edu	37	14	42360508	42360508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360508A>G	ENST00000298119.4	+	4	2630	c.1441A>G	c.(1441-1443)Atg>Gtg	p.M481V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5			120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)		TGCTGGAACTATGTATGACTT	0.403000										HNSCC(30;0.082)														0							SO:0001583	missense			ENST00000298119.4	1	1	hg19	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	7.305	0.613840	0.14066	.	.	ENSG00000165379	ENST00000298119	T	0.67345	-0.26	5.88	3.54	0.40534	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.208081	0.33916	N	0.004434	T	0.44808	0.1311	N	0.22421	0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.33940	T	0.23	.	2.5238	0.04686	0.5668:0.0:0.2343:0.1989	.	481	Q96NI6	LRFN5_HUMAN	V	481	ENSP00000298119:M481V	ENSP00000298119:M481V	M	+	1	0	LRFN5	41430258	0.604000	0.26932	1.000000	0.80357	0.997000	0.91878	0.672000	0.25187	1.045000	0.40225	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1	151	619	0	146	0	3.887000e-02	0	2	0	146	2		0	0	0	0	0	2	1	1	147	612	0	145	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRFN5	145581	broad.mit.edu	37	14	42360546	42360546	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360546C>T	ENST00000298119.4	+	4	2668	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5			120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)		ATGATGATGGCATCACTTCCC	0.458000										HNSCC(30;0.082)														0							SO:0001819	synonymous_variant			ENST00000298119.4	1	1	hg19	CCDS9678.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	1	0	1	178	734	0	156	0	9.994918e-02	0	3	0	156	2		0	0	0	0	0	2	1	1	176	718	0	154	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSCB	84075	broad.mit.edu	37	14	44973805	44973805	+	Missense_Mutation	SNP	C	C	T	rs75354082	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44973805C>T	ENST00000340446.4	-	1	2677	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein			89					TTAGACAAATCTTTAAGGACA	0.383000																								0							SO:0001583	missense			ENST00000340446.4	1	1	hg19	CCDS9679.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.86	2.662331	0.47572	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24908	1.83	3.52	0.672	0.17935	.	.	.	.	.	T	0.18130	0.0435	L	0.43152	1.355	0.09310	N	1	P	0.34639	0.461	B	0.28849	0.095	T	0.12889	-1.0530	9	0.44086	T	0.13	-6.0457	7.0159	0.24887	0.0:0.6676:0.0:0.3324	.	796	Q5H9T9	FSCB_HUMAN	N	796;689	ENSP00000344579:D796N	ENSP00000344579:D796N	D	-	1	0	FSCB	44043555	0.988000	0.35896	0.003000	0.11579	0.079000	0.17450	0.299000	0.19138	0.134000	0.18681	0.484000	0.47621	GAT		TCGA-IB-7651-01A-11D-2154-08	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	1	0	1	86	440	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	86	434	0	114	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSCB	84075	broad.mit.edu	37	14	44974140	44974140	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974140G>T	ENST00000340446.4	-	1	2342	c.2051C>A	c.(2050-2052)tCt>tAt	p.S684Y	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein			89					AGCTGGTAGAGACTGAACTTC	0.592000																								0							SO:0001583	missense			ENST00000340446.4	1	1	hg19	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296614	0.23650	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15017	2.46	4.69	0.56	0.17279	.	.	.	.	.	T	0.20780	0.0500	L	0.53249	1.67	0.09310	N	1	P	0.49090	0.919	P	0.49597	0.616	T	0.11792	-1.0573	9	0.59425	D	0.04	1.4952	4.7706	0.13153	0.1696:0.0:0.5315:0.2988	.	684	Q5H9T9	FSCB_HUMAN	Y	684;577	ENSP00000344579:S684Y	ENSP00000344579:S684Y	S	-	2	0	FSCB	44043890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.068000	0.14531	0.009000	0.14813	-0.362000	0.07510	TCT		TCGA-IB-7651-01A-11D-2154-08	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	1	0	0	9	184	0	28		0	0	0	0	28	2		0	0	0	0	0	2		0	0	0	0	0	2								-11.753570	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.560000	0.270000	0.950000	0.530000	0.583236	0.560000	0	4.000000e-01	7.500000e-01
FSCB	84075	broad.mit.edu	37	14	44974963	44974963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974963C>T	ENST00000340446.4	-	1	1519	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein			89					TCTACTTTAGCTGGGGCCTCT	0.512000																								0							SO:0001583	missense			ENST00000340446.4	1	1	hg19	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709338	0.30322	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13420	2.59	4.49	-2.33	0.06724	.	.	.	.	.	T	0.08537	0.0212	L	0.43152	1.355	0.09310	N	1	B	0.20052	0.041	B	0.22880	0.042	T	0.43877	-0.9364	9	0.14656	T	0.56	-0.4729	2.0042	0.03474	0.1257:0.4363:0.1229:0.3152	.	410	Q5H9T9	FSCB_HUMAN	T	410	ENSP00000344579:A410T	ENSP00000344579:A410T	A	-	1	0	FSCB	44044713	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.358000	0.02604	-0.620000	0.05641	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	1	0	1	46	266	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	45	261	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
FSCB	84075	broad.mit.edu	37	14	44975349	44975349	+	Missense_Mutation	SNP	G	G	A	rs139581441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44975349G>A	ENST00000340446.4	-	1	1133	c.842C>T	c.(841-843)gCg>gTg	p.A281V	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein			89					TCTGGGCTCCGCTTTAGCAGT	0.483000																								0							SO:0001583	missense			ENST00000340446.4	1	0	hg19	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.452098	0.01080	0.002497	0.003488	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.25414	1.8	3.86	-7.73	0.01245	.	.	.	.	.	T	0.11623	0.0283	L	0.29908	0.895	0.09310	N	1	B	0.28971	0.229	B	0.15870	0.014	T	0.12066	-1.0562	9	0.18710	T	0.47	1.4119	6.3551	0.21397	0.1309:0.2257:0.5317:0.1117	.	281	Q5H9T9	FSCB_HUMAN	V	281	ENSP00000344579:A281V	ENSP00000344579:A281V	A	-	2	0	FSCB	44045099	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.261000	0.02855	-2.588000	0.00458	-1.224000	0.01588	GCG		TCGA-IB-7651-01A-11D-2154-08	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	0	0	1	78	307	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	78	299	0	84	2								-2.351578	0	1	121412	386	57	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM179B	23116	broad.mit.edu	37	14	45431649	45431649	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431649C>A	ENST00000361577.3	+	1	239	c.25C>A	c.(25-27)Ctt>Att	p.L9I	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.L9I	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B			45					CTCCGCGCTGCTTCTGCTGCC	0.612000																								0							SO:0001583	missense			ENST00000361577.3	1	1	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508303	0.44660	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.38240	2.33;2.33;1.15	4.88	2.95	0.34219	.	0.355039	0.20528	N	0.090567	T	0.24774	0.0601	N	0.24115	0.695	0.19575	N	0.999969	B;B;B;B	0.28760	0.221;0.221;0.221;0.221	B;B;B;B	0.34652	0.121;0.187;0.187;0.187	T	0.18681	-1.0329	10	0.48119	T	0.1	-0.5936	6.3557	0.21400	0.0:0.7529:0.0:0.2471	.	9;9;9;9	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	I	9	ENSP00000355045:L9I;ENSP00000354917:L9I;ENSP00000371668:L9I	ENSP00000354917:L9I	L	+	1	0	FAM179B	44501399	0.933000	0.31639	0.356000	0.25785	0.748000	0.42578	1.172000	0.31908	0.555000	0.29079	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	1	49	217	0	58	1	9.160587e-01	2	19	0	58	2		0	0	0	0	0	2	1	1	47	214	0	58	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM179B	23116	broad.mit.edu	37	14	45431712	45431712	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431712G>A	ENST00000361577.3	+	1	302	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A30T	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B			45					TCGTCCTTCCGCCCCAGAGAC	0.617000																								0							SO:0001583	missense			ENST00000361577.3	1	1	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.027082	0.19512	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.36520	2.47;2.47;1.25	4.88	0.561	0.17285	.	0.305959	0.23642	N	0.046008	T	0.16300	0.0392	N	0.12182	0.205	0.25685	N	0.98576	B;B;B;B	0.15930	0.015;0.006;0.006;0.006	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.15694	-1.0428	10	0.27082	T	0.32	0.0	6.2572	0.20879	0.4888:0.0:0.5112:0.0	.	30;30;30;30	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	30	ENSP00000355045:A30T;ENSP00000354917:A30T;ENSP00000371668:A30T	ENSP00000354917:A30T	A	+	1	0	FAM179B	44501462	0.955000	0.32602	0.999000	0.59377	0.647000	0.38526	0.783000	0.26802	0.220000	0.20860	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	1	54	151	0	43	0	9.126458e-01	1	13	0	43	2		0	0	0	0	0	2	1	1	54	149	0	43	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM179B	23116	broad.mit.edu	37	14	45432435	45432435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432435G>A	ENST00000361577.3	+	1	1025	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.E271K	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B			45					GGAGACAGAAGAAGAATCTGA	0.493000																								0							SO:0001583	missense			ENST00000361577.3	1	1	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001673	0.74932	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.52983	0.64;0.64;0.64	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.50627	D	0.000111	T	0.32526	0.0832	N	0.19112	0.55	0.36094	D	0.84367	P;B;B;P	0.42296	0.775;0.167;0.167;0.649	B;B;B;B	0.36666	0.23;0.124;0.085;0.23	T	0.49862	-0.8894	10	0.66056	D	0.02	-15.5345	13.7639	0.62983	0.0:0.0:1.0:0.0	.	271;271;271;271	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	K	271	ENSP00000355045:E271K;ENSP00000354917:E271K;ENSP00000371668:E271K	ENSP00000354917:E271K	E	+	1	0	FAM179B	44502185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.307000	0.51888	2.619000	0.88677	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	1	104	466	0	108	0	8.425720e-01	1	16	0	108	2		0	0	0	0	0	2	1	1	102	462	0	108	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM179B	23116	broad.mit.edu	37	14	45432455	45432455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432455C>A	ENST00000361577.3	+	1	1045	c.831C>A	c.(829-831)ttC>ttA	p.F277L	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.F277L	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B			45					AGACAGCTTTCTCCGCACTTC	0.507000																								0							SO:0001583	missense			ENST00000361577.3	1	1	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534101	0.45073	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.55052	0.54;0.54;0.54	5.05	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49305	D	0.000154	T	0.50309	0.1608	N	0.19112	0.55	0.29801	N	0.83247	B;D;D;B	0.58268	0.119;0.982;0.979;0.119	B;D;D;B	0.68943	0.067;0.961;0.92;0.067	T	0.43310	-0.9399	10	0.40728	T	0.16	-9.5516	6.3306	0.21269	0.0:0.7762:0.0:0.2238	.	277;277;277;277	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	L	277	ENSP00000355045:F277L;ENSP00000354917:F277L;ENSP00000371668:F277L	ENSP00000354917:F277L	F	+	3	2	FAM179B	44502205	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	0.604000	0.24164	1.354000	0.45846	0.561000	0.74099	TTC		TCGA-IB-7651-01A-11D-2154-08	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	1	99	465	0	106	1	9.547496e-01	4	22	0	106	2		0	0	0	0	0	2	1	1	98	463	0	106	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM179B	23116	broad.mit.edu	37	14	45432488	45432488	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432488C>T	ENST00000361577.3	+	1	1078	c.864C>T	c.(862-864)ggC>ggT	p.G288G	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Silent_p.G288G|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Silent_p.G288G	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B			45					AGCGACTTGGCCAAGACAGGT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000361577.3	1	1	hg19	CCDS9681.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	1	104	402	0	98	1	9.968128e-01	5	31	0	98	2		0	0	0	0	0	2	1	1	102	397	0	97	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM179B	23116	broad.mit.edu	37	14	45433278	45433278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45433278G>A	ENST00000361577.3	+	1	1868	c.1654G>A	c.(1654-1656)Gct>Act	p.A552T	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.A552T	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B			45					CCTTTTTAAAGCTGTGGATAC	0.468000																								0							SO:0001583	missense			ENST00000361577.3	1	1	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413625	0.83449	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04551	3.6;3.6;3.6	4.47	4.47	0.54385	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.16041	0.0386	L	0.46614	1.455	0.58432	D	0.999998	D;D;D;D	0.89917	0.99;1.0;1.0;0.99	D;D;D;D	0.91635	0.98;0.998;0.999;0.98	T	0.01349	-1.1378	10	0.42905	T	0.14	-12.3087	16.9161	0.86152	0.0:0.0:1.0:0.0	.	552;552;552;552	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	T	552	ENSP00000355045:A552T;ENSP00000354917:A552T;ENSP00000371668:A552T	ENSP00000354917:A552T	A	+	1	0	FAM179B	44503028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	2.311000	0.77944	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	1	89	436	0	109	1	8.552941e-01	5	14	0	109	2		0	0	0	0	0	2	1	1	88	430	0	109	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPF39	55015	broad.mit.edu	37	14	45571884	45571884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45571884G>T	ENST00000355765.6	+	5	892	c.722G>T	c.(721-723)aGt>aTt	p.S241I		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39			12					CAGCTGTATAGTCATCATTTT	0.338000																								0							SO:0001583	missense			ENST00000355765.6	1	1	hg19	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912410	0.72983	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.34667	1.35	5.75	5.75	0.90469	.	0.086607	0.85682	D	0.000000	T	0.59459	0.2195	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.76494	0.989;0.999	D;D	0.67548	0.923;0.952	T	0.55457	-0.8138	10	0.44086	T	0.13	-5.6361	19.5493	0.95311	0.0:0.0:1.0:0.0	.	241;120	Q86UA1;F5H1P0	PRP39_HUMAN;.	I	241;120	ENSP00000348010:S241I	ENSP00000348010:S241I	S	+	2	0	PRPF39	44641634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.387000	0.79785	2.728000	0.93425	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2	0	0	1	145	745	0	212	1	9.191677e-01	6	18	0	212	2		0	0	0	0	0	2	1	1	145	733	0	211	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FANCM	57697	broad.mit.edu	37	14	45605403	45605403	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45605403T>C	ENST00000267430.5	+	1	254	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.L57L|FANCM_ENST00000542564.2_Silent_p.L57L|FKBP3_ENST00000396062.3_5'Flank	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M			85					CGATGATGTGTTGCTTGTCGC	0.632000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia															0							SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000267430.5	1	1	hg19	CCDS32070.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	1	0	0	21	398	0	70	0	1.659895e-01	0	14	0	70	2		0	0	0	0	0	2	1	9.999974e-01	21	392	0	69	2								-19.997690	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.590000	0.370000	0.850000	0.580000	0.604709	0.590000	0	4.700000e-01	7.200000e-01
FANCM	57697	broad.mit.edu	37	14	45636216	45636216	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45636216G>C	ENST00000267430.5	+	11	1937	c.1852G>C	c.(1852-1854)Gtc>Ctc	p.V618L	FANCM_ENST00000556036.1_Missense_Mutation_p.V618L|FANCM_ENST00000542564.2_Missense_Mutation_p.V592L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M			85					TAACAGGCAGGTCCTTCATTT	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia															0							SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000267430.5	1	1	hg19	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	4.353	0.064910	0.08388	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.16897	2.78;2.85;2.86;2.31	5.65	2.81	0.32909	Helicase, C-terminal (1);	0.930262	0.09313	N	0.819360	T	0.11452	0.0279	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.36744	-0.9735	10	0.10902	T	0.67	.	9.4997	0.39011	0.3437:0.0:0.6563:0.0	.	592;618;618	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	L	618;618;592;134	ENSP00000450596:V618L;ENSP00000267430:V618L;ENSP00000442493:V592L;ENSP00000452033:V134L	ENSP00000267430:V618L	V	+	1	0	FANCM	44705966	0.091000	0.21658	0.908000	0.35775	0.971000	0.66376	1.682000	0.37628	0.859000	0.35456	-0.244000	0.11960	GTC		TCGA-IB-7651-01A-11D-2154-08	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	1	0	1	119	619	0	116	0	3.175833e-01	1	6	0	116	2		0	0	0	0	0	2	1	1	116	603	0	115	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FANCM	57697	broad.mit.edu	37	14	45645252	45645252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45645252C>T	ENST00000267430.5	+	14	3380	c.3295C>T	c.(3295-3297)Cgt>Tgt	p.R1099C	FANCM_ENST00000542564.2_Missense_Mutation_p.R1073C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M			85					ACCTAACAATCGTGTTCAAAT	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia															0							SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000267430.5	1	1	hg19	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.096|2.096	-0.407123|-0.407123	0.04832|0.04832	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.17854|.	2.84;2.84;2.25|.	5.41|5.41	3.54|3.54	0.40534|0.40534	.|.	1.403590|.	0.03757|.	N|.	0.257590|.	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.26224|0.26224	-1.0109|-1.0109	10|5	0.34782|.	T|.	0.22|.	.|.	4.183|4.183	0.10385|0.10385	0.1626:0.5915:0.1576:0.0882|0.1626:0.5915:0.1576:0.0882	.|.	1073;1099|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	C|L	1099;1073;615|31	ENSP00000267430:R1099C;ENSP00000442493:R1073C;ENSP00000452033:R615C|.	ENSP00000267430:R1099C|.	R|S	+|+	1|2	0|0	FANCM|FANCM	44715002|44715002	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.025000|0.025000	0.11179|0.11179	-0.008000|-0.008000	0.12788|0.12788	0.715000|0.715000	0.32103|0.32103	0.591000|0.591000	0.81541|0.81541	CGT|TCG		TCGA-IB-7651-01A-11D-2154-08	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	1	0	1	65	294	0	61	0	3.015536e-01	0	6	0	61	2		0	0	0	0	0	2	1	1	63	289	0	61	2								-3.237896	1	1	121412	1	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FANCM	57697	broad.mit.edu	37	14	45658561	45658561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45658561A>C	ENST00000267430.5	+	20	5421	c.5336A>C	c.(5335-5337)cAg>cCg	p.Q1779P	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1753P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M			85					CCAGTTCCACAGAAGGTATGG	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia															0							SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000267430.5	1	1	hg19	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714759	0.15306	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18960	2.78;2.77;2.18	5.28	-0.183	0.13284	.	2.779230	0.01115	N	0.005661	T	0.13884	0.0336	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17018	-1.0383	10	0.30078	T	0.28	.	3.3885	0.07281	0.2996:0.1744:0.0:0.526	.	1753;1779	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	P	1779;1753;1295	ENSP00000267430:Q1779P;ENSP00000442493:Q1753P;ENSP00000452033:Q1295P	ENSP00000267430:Q1779P	Q	+	2	0	FANCM	44728311	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.677000	0.05215	0.088000	0.17205	-1.328000	0.01277	CAG		TCGA-IB-7651-01A-11D-2154-08	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	0	0	0	16	401	0	93	0	3.139762e-02	0	7	0	93	2		0	0	0	0	0	2	1	9.999297e-01	15	397	0	93	2								-16.115010	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.450000	0.270000	0.690000	0.450000	0.469602	0.450000	0	3.500000e-01	5.800000e-01
FANCM	57697	broad.mit.edu	37	14	45667953	45667953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45667953C>T	ENST00000267430.5	+	22	5908	c.5823C>T	c.(5821-5823)acC>acT	p.T1941T	FANCM_ENST00000542564.2_Silent_p.T1915T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M			85					AAGAAGAAACCGCAGATTTGC	0.413000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia															0							SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000267430.5	1	1	hg19	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557919	0.27827	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.7	-2.24	0.06909	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26985	-1.0087	4	.	.	.	.	0.468	0.00527	0.3728:0.2053:0.1324:0.2895	.	.	.	.	C	909	.	.	R	+	1	0	FANCM	44737703	0.213000	0.23551	0.955000	0.39395	0.996000	0.88848	-0.980000	0.03770	-1.052000	0.03222	-0.269000	0.10298	CGC		TCGA-IB-7651-01A-11D-2154-08	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	1	0	1	82	368	0	81	1	7.139961e-01	2	11	0	81	2		0	0	0	0	0	2	1	1	81	362	0	81	2								-2.546170	1	1	121412	2	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL10L	140801	broad.mit.edu	37	14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like			27					CTTGGCCCTGCGCAAGGCTTC	0.517000																								0							SO:0001583	missense			ENST00000298283.3	1	1	hg19	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419639	0.62622	.	.	ENSG00000165496	ENST00000298283	T	0.74947	-0.89	4.57	4.57	0.56435	Ribosomal protein L10e/L16 (2);	0.242055	0.39909	N	0.001228	T	0.82181	0.4981	H	0.95470	3.675	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.82851	-0.0253	10	0.59425	D	0.04	-28.0503	15.6671	0.77238	0.0:1.0:0.0:0.0	.	153	Q96L21	RL10L_HUMAN	H	153	ENSP00000298283:R153H	ENSP00000298283:R153H	R	-	2	0	RPL10L	46190232	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.929000	0.75852	2.824000	0.97209	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1	1	0	1	101	385	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	101	383	0	95	2								-20.000000	1	1	121412	19	45	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL10L	140801	broad.mit.edu	37	14	47120892	47120892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120892C>T	ENST00000298283.3	-	1	136	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like			27					ATTTTGGGTACGGCTTGTTCT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000298283.3	1	1	hg19	CCDS32071.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1	1	0	1	119	522	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	1	114	496	0	114	2								-20.000000	1	1	121412	10	44	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDGA2	161357	broad.mit.edu	37	14	47324240	47324240	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47324240A>T	ENST00000399232.2	-	15	3027	c.2663T>A	c.(2662-2664)aTt>aAt	p.I888N	MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000426342.1_Missense_Mutation_p.I659N|MDGA2_ENST00000439988.3_Missense_Mutation_p.I957N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2			76					AAATGAAGTAATTGGGTATAT	0.323000																								0							SO:0001583	missense			ENST00000399232.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.88	1.475480	0.26511	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.126462	0.34314	U	0.004061	T	0.01189	0.0039	N	0.02697	-0.525	0.33543	D	0.595187	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.40728	T	0.16	.	7.311	0.26475	0.8997:0.0:0.1003:0.0	.	888	Q7Z553	MDGA2_HUMAN	N	888;659;957;90;659	ENSP00000400011:I888N;ENSP00000405456:I659N;ENSP00000382178:I957N;ENSP00000382168:I90N;ENSP00000349925:I659N	ENSP00000349925:I659N	I	-	2	0	MDGA2	46393990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.795000	0.55499	1.890000	0.54733	0.455000	0.32223	ATT		TCGA-IB-7651-01A-11D-2154-08	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	1	0	1	24	211	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	9.999997e-01	23	205	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.790000	1.000000	1.000000	0.981240	0.990000	1	9.700000e-01	1
MDGA2	161357	broad.mit.edu	37	14	47504353	47504353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47504353C>T	ENST00000399232.2	-	8	1837	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I|MDGA2_ENST00000426342.1_Missense_Mutation_p.M262I|MDGA2_ENST00000439988.3_Missense_Mutation_p.M560I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2			76					TCTCCATTTGCATTGATCCAT	0.408000																								0							SO:0001583	missense			ENST00000399232.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.68	3.189648	0.57909	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000006	T	0.41465	0.1160	N	0.04018	-0.295	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.18263	0.012;0.021	T	0.32798	-0.9893	10	0.15066	T	0.55	.	18.0085	0.89216	0.0:1.0:0.0:0.0	.	262;491	F6W3S7;Q7Z553	.;MDGA2_HUMAN	I	491;262;560;262	ENSP00000400011:M491I;ENSP00000405456:M262I;ENSP00000382178:M560I;ENSP00000349925:M262I	ENSP00000349925:M262I	M	-	3	0	MDGA2	46574103	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.608000	0.88229	0.491000	0.48974	ATG		TCGA-IB-7651-01A-11D-2154-08	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	1	0	0	36	876	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	35	854	0	152	2								-3.921713	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.460000	0.320000	0.620000	0.460000	0.471628	0.460000	0	3.900000e-01	5.400000e-01
MGAT2	4247	broad.mit.edu	37	14	50088031	50088031	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50088031C>A	ENST00000305386.2	+	1	543	c.45C>A	c.(43-45)ctC>ctA	p.L15L	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase			11	all_epithelial(31;0.0021)|Breast(41;0.0124)				TCCTGACGCTCGTGGTGGCCG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000305386.2	1	1	hg19	CCDS9690.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	1	0	0	47	188	0	42	1	8.001199e-01	4	10	0	42	2		0	0	0	0	0	2	1	1	47	186	0	42	2								-3.245023	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLE2	5427	broad.mit.edu	37	14	50118009	50118009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50118009C>T	ENST00000216367.5	-	16	1397	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	POLE2_ENST00000539565.2_Missense_Mutation_p.S407N|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.S433N	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit			10	all_epithelial(31;0.0021)|Breast(41;0.0124)			Cladribine(DB00242)	AGCCAAATTGCTGCTAGGAAA	0.318000																								0							SO:0001583	missense			ENST00000216367.5	1	1	hg19	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450900	0.26074	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.30714	1.52;1.52;1.52	5.73	5.73	0.89815	DNA polymerase alpha/epsilon, subunit B (1);	0.152499	0.64402	D	0.000001	T	0.19525	0.0469	N	0.20685	0.6	0.36970	D	0.893758	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.14023	0.006;0.01;0.01	T	0.13495	-1.0507	10	0.25751	T	0.34	-14.4251	10.6341	0.45554	0.0:0.8577:0.0:0.1423	.	433;407;433	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	N	433;407;433	ENSP00000216367:S433N;ENSP00000446313:S407N;ENSP00000451621:S433N	ENSP00000216367:S433N	S	-	2	0	POLE2	49187759	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.097000	0.30988	2.861000	0.98227	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	1	0	1	45	151	0	32	1	8.862228e-01	2	13	0	32	2		0	0	0	0	0	2	1	1	45	149	0	32	2								-20.000000	1	1	121410	4	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHDC1	122773	broad.mit.edu	37	14	50218425	50218425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50218425C>T	ENST00000359332.2	+	13	1246	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1			12	all_epithelial(31;0.00244)|Breast(41;0.00964)				AGCTAATCACCGAGAAGAACA	0.284000																								0							SO:0001587	stop_gained			ENST00000359332.2	0	1	hg19	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947149	0.92593	.	.	ENSG00000197776	ENST00000359332	.	.	.	5.53	4.62	0.57501	.	0.106294	0.40064	N	0.001190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6475	11.2832	0.49208	0.3314:0.6686:0.0:0.0	.	.	.	.	X	386	.	ENSP00000352282:R386X	R	+	1	2	KLHDC1	49288175	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.867000	0.27968	1.280000	0.44463	0.467000	0.42956	CGA		TCGA-IB-7651-01A-11D-2154-08	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	1	0	1	27	121	0	35	1	8.391360e-01	3	14	0	35	2		0	0	0	0	0	2	1	1	26	118	0	34	2								-2.572816	1	1	121400	5	35	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
SOS2	6655	broad.mit.edu	37	14	50641224	50641224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50641224C>T	ENST00000216373.5	-	8	1290	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Intron	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	p.R339H(2)		39	all_epithelial(31;0.000822)|Breast(41;0.0065)				CAGCATAAGACGTGGAAGGAC	0.378000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000216373.5	1	1	hg19	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347167	0.82022	.	.	ENSG00000100485	ENST00000216373	D	0.92348	-3.02	5.6	4.72	0.59763	Dbl homology (DH) domain (5);	0.051123	0.85682	D	0.000000	D	0.94159	0.8126	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61275	0.886;0.886	D	0.94482	0.7694	10	0.72032	D	0.01	.	14.443	0.67330	0.0:0.9292:0.0:0.0707	.	369;339	Q59G32;Q07890	.;SOS2_HUMAN	H	339	ENSP00000216373:R339H	ENSP00000216373:R339H	R	-	2	0	SOS2	49710974	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.403000	0.66338	1.368000	0.46115	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2	1	0	0	11	145	0	30	0	8.134485e-01	1	42	0	30	2		0	0	0	0	0	2	1	9.984153e-01	11	143	0	30	2								-15.273760	1	1	121410	4	31	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.830000	0.450000	1.000000	1.000000	0.817066	0.830000	0	6.200000e-01	1
L2HGDH	79944	broad.mit.edu	37	14	50768820	50768820	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50768820A>G	ENST00000267436.4	-	3	720	c.323T>C	c.(322-324)cTg>cCg	p.L108P	L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.L108P|L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P|MIR4504_ENST00000577413.1_RNA			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase			10	all_epithelial(31;0.000599)|Breast(41;0.0102)				TTTGGCTTTCAGAGACTCAGG	0.408000																								0							SO:0001583	missense			ENST00000267436.4	1	1	hg19	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498281	0.85069	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000557131;ENST00000555423;ENST00000555610	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.55	5.55	0.83447	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96226	0.9164	10	0.87932	D	0	-10.6461	16.008	0.80377	1.0:0.0:0.0:0.0	.	108;108	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	P	108	ENSP00000261699:L108P;ENSP00000267436:L108P;ENSP00000405559:L108P;ENSP00000450494:L108P;ENSP00000452483:L108P	ENSP00000261699:L108P	L	-	2	0	L2HGDH	49838570	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	9.089000	0.94137	2.250000	0.74265	0.533000	0.62120	CTG		TCGA-IB-7651-01A-11D-2154-08	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	1	0	1	101	431	0	85	1	9.840968e-01	13	17	0	85	2		0	0	0	0	0	2	1	1	100	416	0	84	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDKL1	8814	broad.mit.edu	37	14	50799011	50799011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50799011C>T	ENST00000395834.1	-	8	965	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	ATP5S_ENST00000358473.1_Intron|CDKL1_ENST00000216378.2_3'UTR	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	p.R313Q(2)		12	all_epithelial(31;0.000746)|Breast(41;0.0102)				GTGGTGCTTTCGGCTCTTTCT	0.418000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000395834.1	1	1	hg19	CCDS9699.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522196	0.13066	.	.	ENSG00000100490	ENST00000395834	T	0.67171	-0.25	5.33	-1.19	0.09585	Protein kinase-like domain (1);	.	.	.	.	T	0.47600	0.1454	L	0.34521	1.04	0.46586	D	0.999114	B	0.02656	0.0	B	0.04013	0.001	T	0.14476	-1.0471	9	0.22109	T	0.4	.	6.9607	0.24595	0.0:0.5581:0.1076:0.3343	.	312	Q00532	CDKL1_HUMAN	Q	313	ENSP00000379176:R313Q	ENSP00000379176:R313Q	R	-	2	0	CDKL1	49868761	0.177000	0.23109	0.103000	0.21229	0.133000	0.20885	-0.075000	0.11431	-0.331000	0.08501	-1.000000	0.02509	CGA		TCGA-IB-7651-01A-11D-2154-08	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2	1	0	1	177	837	0	177	1	9.468782e-01	7	18	0	177	2		0	0	0	0	0	2	1	1	174	816	0	175	2								-20.000000	1	1	121412	2	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATL1	51062	broad.mit.edu	37	14	51062341	51062341	+	Silent	SNP	G	G	A	rs35629585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51062341G>A	ENST00000358385.6	+	6	862	c.621G>A	c.(619-621)aaG>aaA	p.K207K	ATL1_ENST00000354525.4_Silent_p.K207K|ATL1_ENST00000357032.3_Silent_p.K207K|ATL1_ENST00000441560.2_Silent_p.K207K	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1			18					CATTCCTGAAGCCATTTCAGG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000358385.6	1	0	hg19	CCDS9700.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2	1	0	1	92	374	0	68	0	9.948176e-01	0	35	0	68	2		0	0	0	0	0	2	1	1	89	356	0	68	2								-3.175997	1	1	121412	89	52	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATL1	51062	broad.mit.edu	37	14	51094994	51094994	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51094994C>T	ENST00000358385.6	+	12	1606	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ATL1_ENST00000354525.4_Silent_p.I455I|ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000441560.2_Silent_p.I455I	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1			18					TTGTAGTCATCTTTATCACAT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000358385.6	1	1	hg19	CCDS9700.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2	0	0	1	114	417	0	117	1	9.638359e-01	2	20	0	117	2		0	0	0	0	0	2	1	1	113	406	0	116	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NIN	51199	broad.mit.edu	37	14	51221342	51221342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51221342G>A	ENST00000382041.3	-	20	4863	c.4673C>T	c.(4672-4674)aCg>aTg	p.T1558M	NIN_ENST00000530997.2_Missense_Mutation_p.T1558M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000453196.1_Missense_Mutation_p.T1558M|NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M|NIN_ENST00000245441.5_Missense_Mutation_p.T1558M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)			71	all_epithelial(31;0.00244)|Breast(41;0.127)				TACAGTTTCCGTTTTTTGCCT	0.274000			T	PDGFRB	MPD										Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0							SO:0001583	missense			ENST00000382041.3	1	1	hg19	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466720	0.26335	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.11604	3.56;2.76;2.76;3.3;3.3;3.3	4.77	3.63	0.41609	.	0.570870	0.19028	N	0.124637	T	0.07908	0.0198	N	0.22421	0.69	0.24797	N	0.992728	P;P;P;D;P	0.61080	0.799;0.871;0.709;0.989;0.895	B;B;B;B;B	0.43701	0.159;0.101;0.165;0.428;0.308	T	0.23619	-1.0183	10	0.30078	T	0.28	-4.709	8.8968	0.35470	0.9068:0.0:0.0932:0.0	.	1564;1558;1558;845;1558	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	1558;1541;845;845;1564;1558;1558;1558	ENSP00000245441:T1558M;ENSP00000374518:T845M;ENSP00000371474:T845M;ENSP00000371472:T1558M;ENSP00000324210:T1558M;ENSP00000412391:T1558M	ENSP00000245441:T1558M	T	-	2	0	NIN	50291092	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	3.796000	0.55507	0.791000	0.33826	-0.471000	0.05019	ACG		TCGA-IB-7651-01A-11D-2154-08	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	1	19	102	0	32	1	9.996235e-01	15	58	0	32	2		0	0	0	0	0	2	1	9.999938e-01	18	101	0	32	2								-2.903294	1	0	121344	3	32	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999372	0.990000	1	9.900000e-01	1
NIN	51199	broad.mit.edu	37	14	51223934	51223934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51223934G>A	ENST00000382041.3	-	18	4004	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	NIN_ENST00000530997.2_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.R1272C|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C|NIN_ENST00000245441.5_Missense_Mutation_p.R1272C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)			71	all_epithelial(31;0.00244)|Breast(41;0.127)				TCATCGTAGCGTGTCTCCATC	0.443000			T	PDGFRB	MPD										Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0							SO:0001583	missense			ENST00000382041.3	1	1	hg19	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.057|6.057	0.378912|0.378912	0.11466|0.11466	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|T;T	0.09538|0.14893	3.24;2.97;2.97;2.97|2.47;2.48	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.445379|.	0.23993|.	N|.	0.042559|.	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.19817|.	0.039;0.022;0.038;0.017|.	B;B;B;B|.	0.14578|.	0.007;0.007;0.007;0.011|.	T|T	0.13710|0.13710	-1.0499|-1.0499	10|7	0.54805|0.45353	T|T	0.06|0.12	-3.2342|-3.2342	12.9848|12.9848	0.58586|0.58586	0.0:0.0:0.8387:0.1613|0.0:0.0:0.8387:0.1613	.|.	1278;1272;1272;1272|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	C|M	1272;1255;1278;1272;1272;1272|762	ENSP00000245441:R1272C;ENSP00000371472:R1272C;ENSP00000324210:R1272C;ENSP00000412391:R1272C|ENSP00000374519:T762M;ENSP00000433717:T762M	ENSP00000245441:R1272C|ENSP00000374519:T762M	R|T	-|-	1|2	0|0	NIN|NIN	50293684|50293684	0.009000|0.009000	0.17119|0.17119	0.305000|0.305000	0.25099|0.25099	0.015000|0.015000	0.08874|0.08874	1.696000|1.696000	0.37773|0.37773	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CGC|ACG		TCGA-IB-7651-01A-11D-2154-08	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	1	186	690	0	143	1	9.996475e-01	3	42	0	143	2		0	0	0	0	0	2	1	1	183	680	0	142	2								-20.000000	1	1	121412	1	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NIN	51199	broad.mit.edu	37	14	51224230	51224230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224230G>A	ENST00000382041.3	-	18	3708	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	NIN_ENST00000530997.2_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.S1173F|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F|NIN_ENST00000245441.5_Missense_Mutation_p.S1173F	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)			71	all_epithelial(31;0.00244)|Breast(41;0.127)				TGAAGCTTCAGACTCCTCTAT	0.493000			T	PDGFRB	MPD										Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0							SO:0001583	missense			ENST00000382041.3	1	1	hg19	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	8.869	0.948780	0.18356	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T	0.08282	3.37;3.11;3.11;3.11	5.78	3.91	0.45181	.	0.571186	0.18572	N	0.137314	T	0.15955	0.0384	M	0.67953	2.075	0.20074	N	0.999934	D;D;D;D	0.56746	0.968;0.968;0.977;0.96	P;P;P;P	0.54100	0.68;0.727;0.742;0.605	T	0.11179	-1.0598	10	0.48119	T	0.1	-6.9812	5.2825	0.15682	0.2186:0.2878:0.4936:0.0	.	1179;1173;1173;1173	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.;.;NIN_HUMAN;.	F	1173;1156;1179;1173;1173;1173	ENSP00000245441:S1173F;ENSP00000371472:S1173F;ENSP00000324210:S1173F;ENSP00000412391:S1173F	ENSP00000245441:S1173F	S	-	2	0	NIN	50293980	0.011000	0.17503	0.912000	0.35992	0.102000	0.19082	0.647000	0.24812	0.761000	0.33130	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	0	0	0	21	837	0	163	0	2.448533e-01	1	36	0	163	2		0	0	0	0	0	2	1	9.999969e-01	18	824	0	162	2								-2.738324	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.280000	0.180000	0.420000	0.290000	0.297930	0.280000	0	2.300000e-01	3.600000e-01
NIN	51199	broad.mit.edu	37	14	51224357	51224357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224357G>A	ENST00000382041.3	-	18	3581	c.3391C>T	c.(3391-3393)Cga>Tga	p.R1131*	NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*|NIN_ENST00000245441.5_Nonsense_Mutation_p.R1131*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)			71	all_epithelial(31;0.00244)|Breast(41;0.127)				TGCTTCGTTCGGTTTTGCTGT	0.483000			T	PDGFRB	MPD										Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0							SO:0001587	stop_gained			ENST00000382041.3	0	1	hg19	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.912985|6.912985	0.97932|0.97932	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|.	.|.	.|.	5.56|5.56	2.23|2.23	0.28157|0.28157	.|.	.|0.857809	.|0.10228	.|N	.|0.700090	T|.	0.24661|.	0.0598|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34354|.	-0.9832|.	3|.	.|0.11182	.|T	.|0.66	0.2394|0.2394	7.5752|7.5752	0.27931|0.27931	0.0905:0.0:0.4837:0.4258|0.0905:0.0:0.4837:0.4258	.|.	.|.	.|.	.|.	L|X	621|1131;1114;1137;1131;1131;1131	.|.	.|ENSP00000245441:R1131X	P|R	-|-	2|1	0|2	NIN|NIN	50294107|50294107	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.003000|0.003000	0.03518|0.03518	0.419000|0.419000	0.21247|0.21247	0.596000|0.596000	0.29794|0.29794	0.563000|0.563000	0.77884|0.77884	CCG|CGA		TCGA-IB-7651-01A-11D-2154-08	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	1	92	822	0	151	1	9.049090e-01	3	35	0	151	2		0	0	0	0	0	2	1	1	90	801	0	150	2								-2.415704	0	1	121412	1	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.950000	1.000000	1.000000	0.997726	0.990000	1	9.900000e-01	1
NIN	51199	broad.mit.edu	37	14	51239168	51239168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51239168G>A	ENST00000382041.3	-	9	1022	c.832C>T	c.(832-834)Cga>Tga	p.R278*	NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*|NIN_ENST00000245441.5_Nonsense_Mutation_p.R278*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)			71	all_epithelial(31;0.00244)|Breast(41;0.127)				GTGGTACGTCGTCCACTCTCA	0.498000			T	PDGFRB	MPD										Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0							SO:0001587	stop_gained			ENST00000382041.3	0	1	hg19	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	38	6.661193	0.97743	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	.	.	.	5.55	3.4	0.38934	.	0.052990	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3615	13.1678	0.59581	0.0:0.0:0.4918:0.5082	.	.	.	.	X	278;278;278;278;284;278;278;278;240	.	ENSP00000245441:R278X	R	-	1	2	NIN	50308918	0.993000	0.37304	0.981000	0.43875	0.757000	0.42996	2.152000	0.42272	1.170000	0.42753	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	1	34	161	0	41	1	9.816629e-01	2	31	0	41	2		0	0	0	0	0	2	1	1	33	161	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PYGL	5836	broad.mit.edu	37	14	51378884	51378884	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378884C>T	ENST00000216392.7	-	14	2090	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_ENST00000544180.2_Silent_p.T552T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.T586T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver			25	all_epithelial(31;0.00825)|Breast(41;0.148)			Adenosine monophosphate(DB00131)	GGTTGTACATCGTGATCACAT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000216392.7	1	1	hg19	CCDS32080.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	1	0	1	138	563	0	143	1	1	30	175	0	143	2		0	0	0	0	0	2	1	1	138	551	0	143	2								-3.321764	1	1	121412	2	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYGL	5836	broad.mit.edu	37	14	51378995	51378995	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378995G>A	ENST00000216392.7	-	14	1979	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	PYGL_ENST00000544180.2_Silent_p.F515F|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.F549F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver			25	all_epithelial(31;0.00825)|Breast(41;0.148)			Adenosine monophosphate(DB00131)	CCGTCTCCAGGAACTGAGAAA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000216392.7	1	1	hg19	CCDS32080.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	1	0	0	123	695	0	162	1	1	67	116	0	162	2		0	0	0	0	0	2	1	1	120	686	0	162	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51382068G>A	ENST00000216392.7	-	11	1721	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_ENST00000544180.2_Silent_p.I429I|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.I463I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	p.I463I(1)		25	all_epithelial(31;0.00825)|Breast(41;0.148)			Adenosine monophosphate(DB00131)	TAGTCTTCACGATGTCTGAGT	0.473000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000216392.7	1	1	hg19	CCDS32080.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	1	0	1	128	562	0	143	1	1	21	137	0	143	2		0	0	0	0	0	2	1	1	125	553	0	140	2								-20.000000	1	1	121412	1	40	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMD6	122786	broad.mit.edu	37	14	52167809	52167809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52167809C>T	ENST00000344768.5	+	4	422	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F|FRMD6_ENST00000395718.2_Missense_Mutation_p.L76F|FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F			Q96NE9	FRMD6_HUMAN	FERM domain containing 6			34	all_epithelial(31;0.0163)|Breast(41;0.089)				GTCACAAAAGCTTTACAAATA	0.308000																								0							SO:0001583	missense			ENST00000344768.5	1	1	hg19	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716038	0.89205	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167	D;D;D;T;D	0.85013	-1.93;-1.93;-1.93;0.06;-1.77	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.057299	0.64402	D	0.000001	D	0.92456	0.7605	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.998	D;D;D	0.74348	0.983;0.978;0.978	D	0.92506	0.6012	10	0.72032	D	0.01	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	7;76;76	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	F	76;76;76;7;7	ENSP00000348550:L76F;ENSP00000379068:L76F;ENSP00000343899:L76F;ENSP00000451453:L7F;ENSP00000451977:L7F	ENSP00000343899:L76F	L	+	1	0	FRMD6	51237559	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.951000	0.56684	2.727000	0.93392	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	1	0	1	15	57	0	22	1	9.999924e-01	9	84	0	22	2		0	0	0	0	0	2	1	9.999243e-01	15	56	0	22	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999749	0.990000	1	9.900000e-01	1
FRMD6	122786	broad.mit.edu	37	14	52182142	52182142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52182142C>T	ENST00000344768.5	+	10	1145	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	FRMD6_ENST00000554167.1_Silent_p.L240L|FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000395718.2_Silent_p.L309L|FRMD6_ENST00000356218.4_Silent_p.L309L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6			34	all_epithelial(31;0.0163)|Breast(41;0.089)				CCTGCAACTTCTGAGCAACAG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000344768.5	1	1	hg19	CCDS58318.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	1	0	1	90	329	0	80	1	1	19	127	0	80	2		0	0	0	0	0	2	1	1	89	320	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NID2	22795	broad.mit.edu	37	14	52493938	52493938	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52493938G>A	ENST00000216286.5	-	12	2654	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)			87	Breast(41;0.0639)|all_epithelial(31;0.123)				GGTGCCCATCGCCGGCATAAC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000216286.5	0	1	hg19	CCDS9706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1	0	0	0	30	115	1	19	0	7.191730e-01	0	50	1	19	9		0	0	0	0	0	2	1	9.488391e-01	29	114	1	19	20								-20.000000	1	1	121376	8	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NID2	22795	broad.mit.edu	37	14	52534638	52534638	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52534638C>A	ENST00000216286.5	-	2	471	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	NID2_ENST00000541773.1_Missense_Mutation_p.A105S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)			87	Breast(41;0.0639)|all_epithelial(31;0.123)				TCCCAGGTGGCCAGGAAGGCG	0.667000																								0							SO:0001583	missense			ENST00000216286.5	1	1	hg19	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450520	0.84101	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	T;T	0.20463	2.07;2.07	5.58	5.58	0.84498	Nidogen, extracellular domain (2);	0.202722	0.52532	D	0.000080	T	0.47893	0.1470	M	0.88979	2.995	0.31430	N	0.673213	P;D;P	0.53745	0.925;0.962;0.877	P;P;B	0.52672	0.453;0.706;0.265	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.579	0.95458	0.0:1.0:0.0:0.0	.	105;160;158	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	S	158;105;160	ENSP00000216286:A158S;ENSP00000443730:A105S	ENSP00000216286:A158S	A	-	1	0	NID2	51604388	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	3.463000	0.53050	2.626000	0.88956	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1	1	0	0	200	785	0	172	0	7.335976e-01	0	12	0	172	2		0	0	0	0	0	2	1	1	198	776	0	172	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTGDR	5729	broad.mit.edu	37	14	52735160	52735160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735160C>A	ENST00000306051.2	+	1	730	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L210M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)			26	Breast(41;0.0639)|all_epithelial(31;0.0887)			Nedocromil(DB00716)	CATGGCGCTGCTGGTCCTCGC	0.667000																								0							SO:0001583	missense			ENST00000306051.2	1	1	hg19	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779967	0.49891	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.37915	1.17;1.17	4.76	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	N	0.001694	T	0.49864	0.1582	M	0.64676	1.99	0.33085	D	0.537101	D	0.76494	0.999	D	0.75484	0.986	T	0.57785	-0.7751	10	0.49607	T	0.09	-7.4508	6.8445	0.23980	0.0:0.5646:0.2759:0.1596	.	210	Q13258	PD2R_HUMAN	M	210	ENSP00000303424:L210M;ENSP00000452408:L210M	ENSP00000303424:L210M	L	+	1	2	PTGDR	51804910	1.000000	0.71417	0.992000	0.48379	0.781000	0.44180	2.025000	0.41059	0.270000	0.21984	-0.302000	0.09304	CTG		TCGA-IB-7651-01A-11D-2154-08	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	1	0	1	69	337	0	62	0	1.396448e-01	0	4	0	62	2		0	0	0	0	0	2	1	1	68	331	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTGDR	5729	broad.mit.edu	37	14	52735331	52735331	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735331C>A	ENST00000306051.2	+	1	901	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L267M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)			26	Breast(41;0.0639)|all_epithelial(31;0.0887)			Nedocromil(DB00716)	CCTCCTGCTGCTGGCGCTGAT	0.687000																								0							SO:0001583	missense			ENST00000306051.2	1	1	hg19	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227231	0.58668	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.50001	0.76;0.76	4.38	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001857	T	0.61689	0.2367	M	0.73962	2.25	0.41178	D	0.986219	D	0.65815	0.995	D	0.77557	0.99	T	0.60120	-0.7325	10	0.21540	T	0.41	-19.3755	8.2922	0.31965	0.0:0.8143:0.0:0.1857	.	267	Q13258	PD2R_HUMAN	M	267	ENSP00000303424:L267M;ENSP00000452408:L267M	ENSP00000303424:L267M	L	+	1	2	PTGDR	51805081	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	1.922000	0.40045	1.431000	0.47355	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	1	0	1	244	917	0	190		0	0	0	0	190	2		0	0	0	0	0	2	1	1	240	904	0	185	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNDC16	57544	broad.mit.edu	37	14	52957612	52957612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52957612C>T	ENST00000281741.4	-	10	1239	c.868G>A	c.(868-870)Gca>Aca	p.A290T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16			21	Breast(41;0.0716)				ACCCATTCTGCAGTTCTTCTA	0.393000																								0							SO:0001583	missense			ENST00000281741.4	1	1	hg19	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950519	0.92660	.	.	ENSG00000087301	ENST00000281741	T	0.24908	1.83	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.71581	2.175	0.51012	D	0.999903	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.869	T	0.43130	-0.9410	10	0.42905	T	0.14	-20.0312	17.16	0.86801	0.0:1.0:0.0:0.0	.	285;290	B7ZME4;Q9P2K2	.;TXD16_HUMAN	T	290	ENSP00000281741:A290T	ENSP00000281741:A290T	A	-	1	0	TXNDC16	52027362	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.958000	0.63660	2.709000	0.92574	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	1	0	1	81	437	0	100	1	9.173005e-01	2	23	0	100	2		0	0	0	0	0	2	1	1	81	428	0	99	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNDC16	57544	broad.mit.edu	37	14	52978026	52978026	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52978026G>T	ENST00000281741.4	-	9	1059	c.688C>A	c.(688-690)Cta>Ata	p.L230I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16			21	Breast(41;0.0716)				TGTTCCATTAGTGTTCTTCTA	0.333000																								0							SO:0001583	missense			ENST00000281741.4	1	1	hg19	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438796	0.25900	.	.	ENSG00000087301	ENST00000281741	T	0.18174	2.23	5.13	3.27	0.37495	.	0.605074	0.16762	N	0.200572	T	0.11452	0.0279	L	0.50919	1.6	0.23943	N	0.996394	B;B	0.31485	0.325;0.214	B;B	0.19391	0.025;0.023	T	0.19679	-1.0298	10	0.19147	T	0.46	-9.7799	4.3288	0.11053	0.1874:0.0:0.6307:0.1819	.	225;230	B7ZME4;Q9P2K2	.;TXD16_HUMAN	I	230	ENSP00000281741:L230I	ENSP00000281741:L230I	L	-	1	2	TXNDC16	52047776	0.895000	0.30542	1.000000	0.80357	0.988000	0.76386	0.671000	0.25172	1.278000	0.44430	0.460000	0.39030	CTA		TCGA-IB-7651-01A-11D-2154-08	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	1	0	1	69	372	0	76	1	9.442887e-01	6	22	0	76	2		0	0	0	0	0	2	1	1	68	369	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FERMT2	10979	broad.mit.edu	37	14	53348188	53348188	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53348188C>A	ENST00000395631.2	-	5	743		c.e5-1		FERMT2_ENST00000553373.1_Splice_Site|FERMT2_ENST00000343279.4_Splice_Site|FERMT2_ENST00000399304.3_Splice_Site|FERMT2_ENST00000341590.3_Splice_Site			Q96AC1	FERM2_HUMAN	fermitin family member 2		ERO1L/FERMT2(2)	20	Breast(41;0.0342)				TATATACTTCCTAATAAGTAA	0.353000																								0							SO:0001630	splice_region_variant			ENST00000395631.2	1	1	hg19	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016325	0.75161	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554288	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3068	0.98634	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT2	52417938	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.803000	0.96430	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	0	0	0	38	482	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	36	479	0	92	2								-2.473696	0	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.850000	0.610000	1.000000	1.000000	0.854260	0.850000	1	7.200000e-01	9.900000e-01
DDHD1	80821	broad.mit.edu	37	14	53518626	53518626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53518626C>T	ENST00000323669.5	-	12	2456	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1			25	Breast(41;0.037)				GATTAAAGAACGATTCTTGAA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000323669.5	0	1	hg19	CCDS53895.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	0	9	34	0	8	0	7.485301e-01	1	11	0	8	2		0	0	0	0	0	2	1	9.959164e-01	9	34	0	8	2								-18.694030	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997387	0.990000	1	9.900000e-01	1
DDHD1	80821	broad.mit.edu	37	14	53540518	53540518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53540518T>C	ENST00000323669.5	-	5	1336	c.1337A>G	c.(1336-1338)cAt>cGt	p.H446R	DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R|DDHD1_ENST00000357758.3_Missense_Mutation_p.H446R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1			25	Breast(41;0.037)				ATGTGTTGCATGGTTGGAAAA	0.328000																								0							SO:0001583	missense			ENST00000323669.5	1	1	hg19	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825067	0.32237	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.30714	1.52;1.52;1.52	5.81	5.81	0.92471	.	0.779055	0.13146	N	0.410275	T	0.14960	0.0361	N	0.05306	-0.075	0.29132	N	0.879586	B;B;B	0.20887	0.049;0.047;0.005	B;B;B	0.15052	0.012;0.007;0.006	T	0.17319	-1.0373	10	0.13853	T	0.58	-17.3861	10.0733	0.42345	0.2459:0.0:0.0:0.7541	.	453;446;446	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	R	446;453;446;317	ENSP00000327104:H446R;ENSP00000378970:H453R;ENSP00000350401:H446R	ENSP00000327104:H446R	H	-	2	0	DDHD1	52610268	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.878000	0.48515	2.210000	0.71456	0.533000	0.62120	CAT		TCGA-IB-7651-01A-11D-2154-08	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	1	76	317	0	67	1	9.752135e-01	4	23	0	67	2		0	0	0	0	0	2	1	1	75	309	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDHD1	80821	broad.mit.edu	37	14	53558604	53558604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53558604G>A	ENST00000323669.5	-	4	1187	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	DDHD1_ENST00000395606.1_Silent_p.A403A|DDHD1_ENST00000357758.3_Silent_p.A396A	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1			25	Breast(41;0.037)				CTTCTAATGTGGCTTCTTCTA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000323669.5	1	1	hg19	CCDS53895.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	1	83	330	0	83	1	9.654231e-01	9	15	0	83	2		0	0	0	0	0	2	1	1	82	323	0	82	2								-3.215865	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP4	652	broad.mit.edu	37	14	54417345	54417345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417345C>T	ENST00000245451.4	-	4	1025	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4			19					AGTTTCCCACCGTGTCACATT	0.537000																								0							SO:0001583	missense			ENST00000245451.4	1	1	hg19	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013377	0.35511	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.64260	-0.09;-0.09	5.09	3.11	0.35812	Transforming growth factor-beta, N-terminal (1);	0.417987	0.27126	N	0.020803	T	0.49064	0.1535	L	0.41824	1.3	0.30831	N	0.736733	B	0.18310	0.027	B	0.18871	0.023	T	0.51164	-0.8740	10	0.40728	T	0.16	.	8.2551	0.31751	0.0:0.7359:0.0:0.2641	.	211	P12644	BMP4_HUMAN	Q	211	ENSP00000245451:R211Q;ENSP00000394165:R211Q	ENSP00000245451:R211Q	R	-	2	0	BMP4	53487095	0.963000	0.33076	1.000000	0.80357	0.998000	0.95712	0.977000	0.29475	1.364000	0.46038	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	1	0	1	78	446	0	104	1	1	54	104	0	104	2		0	0	0	0	0	2	1	1	78	438	0	103	2								-2.541261	1	0	121412	2	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP4	652	broad.mit.edu	37	14	54417408	54417408	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417408A>G	ENST00000245451.4	-	4	962	c.569T>C	c.(568-570)gTg>gCg	p.V190A	BMP4_ENST00000559087.1_Missense_Mutation_p.V190A|BMP4_ENST00000558984.1_Missense_Mutation_p.V190A|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4			19					CCCAGGCACCACTTCTGCTGG	0.567000																								0							SO:0001583	missense			ENST00000245451.4	1	1	hg19	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.642132	0.00799	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.71103	-0.54;-0.54	5.2	-1.61	0.08399	Transforming growth factor-beta, N-terminal (1);	1.161200	0.06292	N	0.699329	T	0.44307	0.1287	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	10	0.12430	T	0.62	.	5.6727	0.17731	0.3354:0.1821:0.4825:0.0	.	190	P12644	BMP4_HUMAN	A	190	ENSP00000245451:V190A;ENSP00000394165:V190A	ENSP00000245451:V190A	V	-	2	0	BMP4	53487158	0.002000	0.14202	0.783000	0.31826	0.852000	0.48524	-0.047000	0.11963	-0.143000	0.11334	-0.408000	0.06270	GTG		TCGA-IB-7651-01A-11D-2154-08	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	0	0	1	76	301	0	81	1	1	55	105	0	81	2		0	0	0	0	0	2	1	1	74	294	0	81	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDKN3	1033	broad.mit.edu	37	14	54882622	54882622	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54882622A>G	ENST00000335183.6	+	6	536	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000556102.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C	NM_005192.3	NP_005183.2	Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3			3					TTCAGCTGCTATGGAGGACTT	0.343000													Pancreas(40;634 1012 9382 49950 52462)											0							SO:0001583	missense			ENST00000335183.6	0	1	hg19	CCDS9716.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320151	0.60634	.	.	ENSG00000100526	ENST00000335183;ENST00000442975;ENST00000458126;ENST00000556102;ENST00000439312;ENST00000395577	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.29	5.29	0.74685	Cyclin-dependent kinase inhibitor 3, bac/eukaryotic (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121890	0.56097	D	0.000021	T	0.71358	0.3330	M	0.77103	2.36	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.80764	0.939;0.994	T	0.73307	-0.4024	10	0.48119	T	0.1	-19.5529	13.1044	0.59239	1.0:0.0:0.0:0.0	.	101;141	Q16667-2;Q16667	.;CDKN3_HUMAN	C	141;101;141;141;136;95	ENSP00000335357:Y141C;ENSP00000415333:Y101C;ENSP00000396451:Y141C;ENSP00000450711:Y141C;ENSP00000378944:Y95C	ENSP00000335357:Y141C	Y	+	2	0	CDKN3	53952372	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.969000	0.49232	2.225000	0.72522	0.459000	0.35465	TAT		TCGA-IB-7651-01A-11D-2154-08	CDKN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276893.2	0	0	0	8	505	0	61	1	3.705916e-01	3	72	0	61	2		0	0	0	0	0	2	1	9.880231e-01	8	489	0	60	2								-3.331173	1	0	121410	1	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.180000	0.080000	0.340000	0.180000	0.202728	0.180000	0	1.300000e-01	2.700000e-01
CGRRF1	10668	broad.mit.edu	37	14	55004875	55004875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55004875G>A	ENST00000216420.7	+	6	905	c.773G>A	c.(772-774)gGa>gAa	p.G258E	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1			13					GAAAAGGTGGGACTCTCTGAA	0.423000																								0							SO:0001583	missense			ENST00000216420.7	1	1	hg19	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	G	8.102	0.776869	0.16120	.	.	ENSG00000100532	ENST00000216420	T	0.27104	1.69	5.31	4.4	0.53042	.	0.255488	0.37809	N	0.001938	T	0.34600	0.0903	L	0.50333	1.59	0.45554	D	0.998509	D	0.63880	0.993	P	0.52793	0.709	T	0.05305	-1.0893	10	0.24483	T	0.36	-17.8994	15.2224	0.73324	0.0:0.0:0.8583:0.1417	.	258	Q99675	CGRF1_HUMAN	E	258	ENSP00000216420:G258E	ENSP00000216420:G258E	G	+	2	0	CGRRF1	54074625	1.000000	0.71417	0.078000	0.20375	0.016000	0.09150	8.490000	0.90464	1.425000	0.47237	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	1	0	1	61	310	0	75	1	1	35	95	0	75	2		0	0	0	0	0	2	1	1	59	307	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCH1	2643	broad.mit.edu	37	14	55326402	55326402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55326402G>A	ENST00000491895.2	-	3	694	c.506C>T	c.(505-507)gCg>gTg	p.A169V	GCH1_ENST00000395514.1_Missense_Mutation_p.A169V|GCH1_ENST00000543643.2_Missense_Mutation_p.A169V|GCH1_ENST00000254299.4_5'UTR|RNU6ATAC9P_ENST00000516210.1_RNA|GCH1_ENST00000536224.2_Missense_Mutation_p.A169V	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	p.A169E(1)		11					CACTTACCTCGCAAGTTTGCT	0.438000													Pancreas(198;1245 2204 4807 21567 38372)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000491895.2	1	1	hg19	CCDS9720.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608521	0.87258	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8	5.1	4.19	0.49359	GTP cyclohydrolase I/Nitrile oxidoreductase (1);	0.051000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.937;0.962	D	0.97246	0.9894	10	0.66056	D	0.02	.	14.7219	0.69314	0.0:0.1456:0.8544:0.0	.	169;169;169;169	F8W9F6;P30793-2;P30793-4;P30793	.;.;.;GCH1_HUMAN	V	169	ENSP00000378890:A169V;ENSP00000444011:A169V;ENSP00000419045:A169V;ENSP00000445246:A169V	ENSP00000378890:A169V	A	-	2	0	GCH1	54396152	1.000000	0.71417	0.870000	0.34147	0.796000	0.44982	9.203000	0.95033	1.339000	0.45563	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3	1	0	1	41	165	0	57	1	9.988940e-01	14	31	0	57	2		0	0	0	0	0	2	1	1	40	163	0	57	2								-3.632048	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDHD1	11169	broad.mit.edu	37	14	55455901	55455901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55455901G>T	ENST00000360586.3	-	13	1436	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*|WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1			42					CATCATTATAGCAGCGAATAA	0.373000																								0							SO:0001587	stop_gained			ENST00000360586.3	0	1	hg19	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	41	8.669991	0.98908	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	.	.	.	5.28	5.28	0.74379	.	0.099841	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3974	9.0848	0.36574	0.2059:0.0:0.7941:0.0	.	.	.	.	X	457;334	.	ENSP00000353793:C457X	C	-	3	2	WDHD1	54525651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.181000	0.42547	2.465000	0.83290	0.591000	0.81541	TGC		TCGA-IB-7651-01A-11D-2154-08	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	1	0	1	47	207	0	42	1	7.610681e-01	2	12	0	42	2		0	0	0	0	0	2	1	1	47	203	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDHD1	11169	broad.mit.edu	37	14	55462511	55462511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55462511C>A	ENST00000360586.3	-	11	1028	c.963G>T	c.(961-963)aaG>aaT	p.K321N	WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N|WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1			42					CATTATAATCCTTTTCCACTC	0.274000																								0							SO:0001583	missense			ENST00000360586.3	1	1	hg19	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724696	0.30593	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	T;T	0.64803	0.26;-0.12	4.99	1.88	0.25563	.	0.204668	0.49916	N	0.000137	T	0.46444	0.1393	L	0.49350	1.555	0.80722	D	1	B	0.16802	0.019	B	0.14578	0.011	T	0.28554	-1.0040	10	0.26408	T	0.33	.	2.1706	0.03848	0.2356:0.4012:0.0:0.3632	.	321	O75717	WDHD1_HUMAN	N	321;198	ENSP00000353793:K321N;ENSP00000391049:K198N	ENSP00000353793:K321N	K	-	3	2	WDHD1	54532261	0.933000	0.31639	1.000000	0.80357	0.941000	0.58515	-0.103000	0.10940	0.662000	0.31006	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	1	0	1	24	109	0	31	0	5.123658e-01	0	9	0	31	2		0	0	0	0	0	2	1	9.999998e-01	24	108	0	31	2								-3.483493	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
SOCS4	122809	broad.mit.edu	37	14	55510090	55510090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55510090C>T	ENST00000395472.2	+	2	663	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	SOCS4_ENST00000555846.1_Missense_Mutation_p.R111W|SOCS4_ENST00000339298.2_Missense_Mutation_p.R111W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4			14					TTGTAGTAGTCGGCACTCTTC	0.428000																								0							SO:0001583	missense			ENST00000395472.2	0	1	hg19	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855838	0.71834	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.33438	1.41;1.41;1.41	5.52	5.52	0.82312	.	0.180736	0.37906	N	0.001883	T	0.50684	0.1630	L	0.44542	1.39	0.51233	D	0.999913	D	0.89917	1.0	D	0.76071	0.987	T	0.49597	-0.8923	10	0.72032	D	0.01	-13.5262	19.4425	0.94827	0.0:1.0:0.0:0.0	.	111	Q8WXH5	SOCS4_HUMAN	W	111	ENSP00000378855:R111W;ENSP00000452522:R111W;ENSP00000341327:R111W	ENSP00000341327:R111W	R	+	1	2	SOCS4	54579843	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	3.459000	0.53021	2.594000	0.87642	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1	0	0	0	10	560	0	103	0	2.711434e-01	0	53	0	103	2		0	0	0	0	0	2	1	9.967252e-01	9	554	0	102	2								-2.851301	1	1	121412	1	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.210000	0.100000	0.360000	0.200000	0.223306	0.210000	0	1.500000e-01	2.900000e-01
SOCS4	122809	broad.mit.edu	37	14	55511079	55511079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55511079C>A	ENST00000395472.2	+	2	1652	c.1320C>A	c.(1318-1320)tgC>tgA	p.C440*	SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4			14					AACAGCAATGCTAGTAACAGG	0.308000																								0							SO:0001587	stop_gained			ENST00000395472.2	0	1	hg19	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594096	0.66219	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	4.96	0.996	0.19844	.	0.537537	0.16649	N	0.205289	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5584	0.22474	0.1332:0.6474:0.0:0.2194	.	.	.	.	X	440	.	ENSP00000341327:C440X	C	+	3	2	SOCS4	54580832	0.786000	0.28738	0.653000	0.29593	0.553000	0.35397	0.658000	0.24979	0.326000	0.23384	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1	1	0	1	36	118	0	24	1	9.934234e-01	10	19	0	24	2		0	0	0	0	0	2	1	1	36	117	0	24	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGALS3	3958	broad.mit.edu	37	14	55605066	55605066	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55605066G>T	ENST00000254301.9	+	3	583	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	LGALS3_ENST00000554715.1_Missense_Mutation_p.G108C|LGALS3_ENST00000553755.1_3'UTR	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3			3					TGGCCCCTATGGCGCCCCTGC	0.612000																								0							SO:0001583	missense			ENST00000254301.9	1	1	hg19	CCDS41956.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201404	0.22121	.	.	ENSG00000131981	ENST00000254301;ENST00000554715	T;T	0.09723	3.61;2.95	5.58	3.66	0.41972	.	2.278500	0.01719	N	0.028192	T	0.15955	0.0384	N	0.14661	0.345	0.19775	N	0.999956	D	0.71674	0.998	P	0.58013	0.831	T	0.30475	-0.9977	10	0.39692	T	0.17	-2.8531	8.0152	0.30376	0.2051:0.0:0.7949:0.0	.	108	P17931	LEG3_HUMAN	C	108	ENSP00000254301:G108C;ENSP00000451381:G108C	ENSP00000254301:G108C	G	+	1	0	LGALS3	54674819	0.466000	0.25823	0.236000	0.24074	0.389000	0.30415	1.162000	0.31786	1.266000	0.44231	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	0	0	0	9	225	0	51	1	1	255	2985	0	51	2		0	0	0	0	0	2	1	9.902609e-01	8	198	0	39	2								-11.006680	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.460000	0.230000	0.790000	0.430000	0.485622	0.460000	0	3.300000e-01	6.300000e-01
DLGAP5	9787	broad.mit.edu	37	14	55636179	55636179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55636179G>A	ENST00000247191.2	-	12	1702	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5			44					TTTATACCTCGTTTATATTCA	0.363000																								0							SO:0001587	stop_gained			ENST00000247191.2	0	1	hg19	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531200	0.85706	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	.	.	.	5.85	2.93	0.34026	.	0.242538	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1119	0.42568	0.1297:0.1155:0.7548:0.0	.	.	.	.	X	496	.	ENSP00000247191:R496X	R	-	1	2	DLGAP5	54705932	0.996000	0.38824	0.101000	0.21167	0.009000	0.06853	2.861000	0.48380	0.897000	0.36392	-0.140000	0.14226	CGA		TCGA-IB-7651-01A-11D-2154-08	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	1	0	1	65	306	0	65	0	9.267524e-01	1	22	0	65	2		0	0	0	0	0	2	1	1	63	295	0	64	2								-20.000000	1	1	121410	1	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO34	55030	broad.mit.edu	37	14	55817495	55817495	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55817495T>C	ENST00000313833.4	+	2	632	c.387T>C	c.(385-387)agT>agC	p.S129S	FBXO34_ENST00000440021.1_Silent_p.S129S|FBXO34_ENST00000555087.1_3'UTR	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34			22					ACCAGTGTAGTAACAGGATAG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000313833.4	1	1	hg19	CCDS32086.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1	1	0	1	54	185	0	62	1	9.999964e-01	15	53	0	62	2		0	0	0	0	0	2	1	1	54	181	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO34	55030	broad.mit.edu	37	14	55818033	55818033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818033C>T	ENST00000313833.4	+	2	1170	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34			22					TAACAGCTTCCGTCGAAATGT	0.537000																								0							SO:0001583	missense			ENST00000313833.4	1	1	hg19	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481727	0.26598	2.27E-4	0.0	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.27104	1.69;1.69	5.48	2.7	0.31948	.	0.643718	0.14116	N	0.340394	T	0.23766	0.0575	M	0.72894	2.215	0.51767	D	0.999938	B	0.32939	0.391	B	0.23419	0.046	T	0.06356	-1.0831	10	0.87932	D	0	-6.6979	5.6371	0.17542	0.1376:0.6488:0.0:0.2136	.	309	Q9NWN3	FBX34_HUMAN	C	309	ENSP00000313159:R309C;ENSP00000394117:R309C	ENSP00000313159:R309C	R	+	1	0	FBXO34	54887786	1.000000	0.71417	0.370000	0.25965	0.046000	0.14306	3.229000	0.51278	0.436000	0.26393	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1	0	0	0	22	667	0	132	1	7.143223e-01	6	71	0	132	2		0	0	0	0	0	2	1	9.999985e-01	21	657	0	130	2								-2.571924	1	1	121412	1	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.370000	0.240000	0.540000	0.370000	0.387096	0.370000	0	3.000000e-01	4.600000e-01
FBXO34	55030	broad.mit.edu	37	14	55818571	55818571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818571G>A	ENST00000313833.4	+	2	1708	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34			22					TTGCCACCTGGTCAGCACTTG	0.468000																								0							SO:0001583	missense			ENST00000313833.4	1	1	hg19	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495072	0.12762	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.17054	2.3;2.3	5.19	1.27	0.21489	.	0.678775	0.13082	N	0.415215	T	0.15998	0.0385	M	0.66939	2.045	0.09310	N	0.999995	B	0.17667	0.023	B	0.16722	0.016	T	0.31447	-0.9943	10	0.21014	T	0.42	-21.5041	5.5875	0.17283	0.2199:0.3356:0.4444:0.0	.	488	Q9NWN3	FBX34_HUMAN	D	488	ENSP00000313159:G488D;ENSP00000394117:G488D	ENSP00000313159:G488D	G	+	2	0	FBXO34	54888324	0.584000	0.26766	0.391000	0.26233	0.703000	0.40648	0.752000	0.26362	0.421000	0.25980	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1	1	0	1	114	503	0	124	1	9.999975e-01	19	63	0	124	2		0	0	0	0	0	2	1	1	111	496	0	122	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KTN1	3895	broad.mit.edu	37	14	56103175	56103175	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:56103175A>G	ENST00000395314.3	+	10	1538	c.1470A>G	c.(1468-1470)ctA>ctG	p.L490L	KTN1_ENST00000395311.1_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L|KTN1_ENST00000413890.2_Silent_p.L490L|KTN1_ENST00000395309.3_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000416613.1_Silent_p.L490L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)			19					AGGTTCAACTACAAGAAGCTG	0.403000			T	RET	papillary thryoid										Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0							SO:0001819	synonymous_variant			ENST00000395314.3	1	1	hg19	CCDS41957.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2	1	0	1	11	56	0	26	1	1	150	373	0	26	2		0	0	0	0	0	2	1	9.987051e-01	11	55	0	26	2								-9.313725	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.996281	0.990000	1	9.900000e-01	1
OTX2	5015	broad.mit.edu	37	14	57268778	57268778	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57268778G>T	ENST00000555006.1	-	4	953	c.545C>A	c.(544-546)gCt>gAt	p.A182D	OTX2_ENST00000339475.5_Missense_Mutation_p.A190D|OTX2_ENST00000408990.3_Missense_Mutation_p.A182D|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2			19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)				ATAACCTGAAGCCTGAGTATA	0.522000																								0							SO:0001583	missense			ENST00000555006.1	1	1	hg19	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010981	0.54361	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	6.06	5.17	0.71159	Transcription factor Otx, C-terminal (1);	0.000000	0.42053	D	0.000764	D	0.91915	0.7440	M	0.78049	2.395	0.80722	D	1	P;P	0.49696	0.927;0.775	P;P	0.51742	0.678;0.67	D	0.92564	0.6060	10	0.66056	D	0.02	.	14.119	0.65175	0.0723:0.0:0.9277:0.0	.	190;182	F1T0D1;P32243	.;OTX2_HUMAN	D	190;182;182;190	ENSP00000343819:A190D;ENSP00000386185:A182D;ENSP00000452336:A182D;ENSP00000451357:A190D	ENSP00000343819:A190D	A	-	2	0	OTX2	56338531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.576000	0.49790	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	1	0	1	75	268	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	72	258	0	70	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTX2	5015	broad.mit.edu	37	14	57272168	57272168	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57272168A>G	ENST00000555006.1	-	2	415	c.7T>C	c.(7-9)Tct>Cct	p.S3P	OTX2_ENST00000339475.5_Missense_Mutation_p.S3P|OTX2_ENST00000408990.3_Missense_Mutation_p.S3P|OTX2_ENST00000554559.1_Missense_Mutation_p.S3P|OTX2_ENST00000554788.1_Missense_Mutation_p.S3P			P32243	OTX2_HUMAN	orthodenticle homeobox 2			19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)				TTAAGATAAGACATCATGCTA	0.562000																								0							SO:0001583	missense			ENST00000555006.1	1	1	hg19	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028134	0.75390	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000554559;ENST00000555804	D;D;D;D;D	0.92545	-2.94;-2.88;-2.88;-3.06;-3.02	4.35	4.35	0.52113	.	0.000000	0.42294	D	0.000724	D	0.94308	0.8171	M	0.71296	2.17	0.41365	D	0.987455	D;D	0.60160	0.987;0.986	P;P	0.60949	0.828;0.881	D	0.94798	0.7968	10	0.87932	D	0	.	11.81	0.52177	1.0:0.0:0.0:0.0	.	3;3	F1T0D1;P32243	.;OTX2_HUMAN	P	3	ENSP00000343819:S3P;ENSP00000386185:S3P;ENSP00000452336:S3P;ENSP00000451357:S3P;ENSP00000451272:S3P	ENSP00000343819:S3P	S	-	1	0	OTX2	56341921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.559000	0.90708	1.947000	0.56498	0.528000	0.53228	TCT		TCGA-IB-7651-01A-11D-2154-08	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	1	0	1	24	114	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.999998e-01	23	110	0	33	2								-15.272980	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999938	0.990000	1	9.900000e-01	1
EXOC5	10640	broad.mit.edu	37	14	57713495	57713495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57713495C>A	ENST00000413566.2	-	3	563	c.204G>T	c.(202-204)gaG>gaT	p.E68D	EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D|EXOC5_ENST00000556911.1_5'UTR	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5			22					GACATTGTTGCTCTAGTTTCT	0.343000																								0							SO:0001583	missense			ENST00000413566.2	1	1	hg19	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945497	0.73672	.	.	ENSG00000070367	ENST00000413566;ENST00000340918;ENST00000556318	T;T	0.55588	0.69;0.51	5.17	-0.086	0.13683	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.68317	2.08	0.21064	N	0.999797	D;D	0.63880	0.99;0.993	D;D	0.73380	0.98;0.967	T	0.57300	-0.7835	10	0.09084	T	0.74	-13.5718	10.5882	0.45294	0.0:0.5358:0.0:0.4642	.	68;68	F8W9B8;O00471	.;EXOC5_HUMAN	D	68;68;13	ENSP00000389934:E68D;ENSP00000342100:E68D	ENSP00000342100:E68D	E	-	3	2	EXOC5	56783248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.963000	0.29293	0.024000	0.15214	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	1	0	0	21	437	0	68	1	9.603442e-01	7	106	0	68	2		0	0	0	0	0	2	1	9.999969e-01	19	427	0	68	2								-4.862512	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.540000	0.340000	0.780000	0.530000	0.554131	0.540000	0	4.300000e-01	6.600000e-01
SLC35F4	341880	broad.mit.edu	37	14	58063507	58063507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58063507G>T	ENST00000339762.6	-	1	108	c.109C>A	c.(109-111)Cca>Aca	p.P37T	SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000557430.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4			24					TTATGTCCTGGCTTCCATACC	0.433000																								0							SO:0001583	missense			ENST00000339762.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.591	1.126237	0.20959	.	.	ENSG00000151812	ENST00000339762	T	0.54866	0.55	4.28	2.44	0.29823	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.36040	-0.9764	8	0.87932	D	0	.	5.848	0.18677	0.104:0.1966:0.6994:0.0	.	37	A4IF30	S35F4_HUMAN	T	37	ENSP00000342518:P37T	ENSP00000342518:P37T	P	-	1	0	SLC35F4	57133260	0.099000	0.21834	0.001000	0.08648	0.006000	0.05464	0.773000	0.26661	0.748000	0.32831	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	21	134	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.999982e-01	21	131	0	27	2								-11.986290	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998272	0.990000	1	9.900000e-01	1
C14orf37	145407	broad.mit.edu	37	14	58605363	58605363	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605363A>C	ENST00000267485.7	-	2	908	c.714T>G	c.(712-714)ggT>ggG	p.G238G	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37			33					TGGACTCAGCACCAGGAAAAG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000267485.7	1	1	hg19	CCDS32089.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	1	0	1	78	314	0	62	1	9.988144e-01	6	37	0	62	2		0	0	0	0	0	2	1	1	78	308	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C14orf37	145407	broad.mit.edu	37	14	58605508	58605508	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605508T>C	ENST00000267485.7	-	2	763	c.569A>G	c.(568-570)cAa>cGa	p.Q190R	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37			33					TGCAAATGATTGATTATCCAT	0.393000																								0							SO:0001583	missense			ENST00000267485.7	1	1	hg19	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622137	0.46840	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34859	1.34	6.17	1.06	0.20224	.	0.540195	0.18131	N	0.150725	T	0.43656	0.1257	M	0.64997	1.995	0.09310	N	1	P;D;P;P	0.59767	0.919;0.986;0.919;0.919	P;P;P;P	0.55391	0.59;0.775;0.59;0.59	T	0.23547	-1.0185	10	0.40728	T	0.16	-0.4011	7.364	0.26762	0.0:0.081:0.4972:0.4217	.	228;190;190;190	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	R	190;228	ENSP00000267485:Q190R	ENSP00000267485:Q190R	Q	-	2	0	C14orf37	57675261	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.207000	0.17395	0.158000	0.19367	0.533000	0.62120	CAA		TCGA-IB-7651-01A-11D-2154-08	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	1	0	1	77	368	0	95	1	9.856019e-01	6	28	0	95	2		0	0	0	0	0	2	1	1	77	366	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C14orf37	145407	broad.mit.edu	37	14	58605812	58605812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605812C>A	ENST00000267485.7	-	2	459	c.265G>T	c.(265-267)Gca>Tca	p.A89S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37			33					ATCGAGAATGCTTTATTTAAT	0.478000																								0							SO:0001583	missense			ENST00000267485.7	1	1	hg19	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341151	0.41498	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.32515	1.45	5.82	3.98	0.46160	.	0.702903	0.13150	N	0.409977	T	0.21227	0.0511	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.41848	0.435;0.763;0.435;0.435	B;B;B;B	0.36608	0.124;0.229;0.124;0.124	T	0.05550	-1.0878	10	0.21540	T	0.41	-0.5202	10.1614	0.42853	0.0:0.8479:0.0:0.1521	.	127;89;89;89	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	S	89;127	ENSP00000267485:A89S	ENSP00000267485:A89S	A	-	1	0	C14orf37	57675565	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.728000	0.26013	0.784000	0.33661	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	1	0	0	19	466	0	86	0	1.260944e-01	0	15	0	86	2		0	0	0	0	0	2	1	9.999891e-01	19	456	0	86	2								-4.020565	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.460000	0.280000	0.680000	0.460000	0.476140	0.460000	0	3.600000e-01	5.800000e-01
ACTR10	55860	broad.mit.edu	37	14	58697142	58697142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58697142G>A	ENST00000254286.4	+	11	894	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)			13					AATTCTTTTTGAACAAGATAA	0.318000																								0							SO:0001583	missense			ENST00000254286.4	1	1	hg19	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730951	0.89390	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94330	-3.4	5.74	5.74	0.90152	.	0.088942	0.85682	D	0.000000	D	0.91885	0.7431	L	0.39692	1.235	0.80722	D	1	B;B	0.27910	0.193;0.193	B;B	0.34536	0.185;0.129	D	0.89792	0.3969	10	0.87932	D	0	-8.36	18.9694	0.92709	0.0:0.0:1.0:0.0	.	272;272	Q53H79;Q9NZ32	.;ARP10_HUMAN	K	272	ENSP00000254286:E272K	ENSP00000254286:E272K	E	+	1	0	ACTR10	57766895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.176000	0.94839	2.731000	0.93534	0.549000	0.68633	GAA		TCGA-IB-7651-01A-11D-2154-08	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1	1	0	1	72	355	0	81	1	1	78	210	0	81	2		0	0	0	0	0	2	1	1	72	350	0	81	2								-3.167023	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARID4A	5926	broad.mit.edu	37	14	58811415	58811415	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58811415T>G	ENST00000355431.3	+	12	1282	c.909T>G	c.(907-909)ccT>ccG	p.P303P	ARID4A_ENST00000431317.2_Silent_p.P303P|ARID4A_ENST00000348476.3_Silent_p.P303P|ARID4A_ENST00000395168.3_Silent_p.P303P	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)			60					CTTTACAGCCTGAGGAAGAAC	0.333000																								0							SO:0001819	synonymous_variant			ENST00000355431.3	1	1	hg19	CCDS9732.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	1	0	1	29	166	0	28	1	9.940477e-01	12	37	0	28	2		0	0	0	0	0	2	1	1	29	162	0	28	2								-15.619130	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999860	0.990000	1	9.900000e-01	1
ARID4A	5926	broad.mit.edu	37	14	58838690	58838690	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58838690G>A	ENST00000355431.3	+	24	4130	c.3757G>A	c.(3757-3759)Gct>Act	p.A1253T	ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|RP11-517O13.3_ENST00000556390.1_RNA	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)			60					AAATGTACTTGCTGTAGAATG	0.458000																								0							SO:0001583	missense			ENST00000355431.3	1	1	hg19	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041641	0.75732	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.15834	2.39;2.46;2.46;2.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.19112	0.55	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.989;0.998	T	0.10154	-1.0642	10	0.72032	D	0.01	-19.7907	19.087	0.93206	0.0:0.0:1.0:0.0	.	1184;1253;1199	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	1253;1184;1199;1184	ENSP00000347602:A1253T;ENSP00000344556:A1184T;ENSP00000378597:A1199T;ENSP00000397368:A1184T	ENSP00000344556:A1184T	A	+	1	0	ARID4A	57908443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.716000	0.91420	2.737000	0.93849	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	1	0	1	26	98	0	15	1	9.986143e-01	10	33	0	15	2		0	0	0	0	0	2	1	1	26	96	0	15	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
KIAA0586	9786	broad.mit.edu	37	14	58949251	58949251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58949251G>A	ENST00000556134.1	+	22	3194	c.2920G>A	c.(2920-2922)Gcc>Acc	p.A974T	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A945T|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586			34					AAGCAGTGGCGCCCTCCAGCT	0.368000																								0							SO:0001583	missense			ENST00000556134.1	1	1	hg19	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643865	0.29246	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.9	1.72	0.24424	.	0.835333	0.10542	N	0.662544	T	0.38878	0.1057	M	0.72479	2.2	0.09310	N	1	B;B;B;B;B;B	0.32203	0.066;0.066;0.017;0.004;0.116;0.36	B;B;B;B;B;B	0.17722	0.007;0.013;0.003;0.002;0.013;0.019	T	0.16305	-1.0407	10	0.40728	T	0.16	.	11.0398	0.47825	0.272:0.0:0.728:0.0	.	849;849;1042;913;974;945	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	T	1042;974;945;913;849	ENSP00000346359:A1042T;ENSP00000452351:A974T;ENSP00000399427:A945T;ENSP00000261244:A913T	ENSP00000261244:A913T	A	+	1	0	KIAA0586	58019004	1.000000	0.71417	0.016000	0.15963	0.200000	0.23975	2.792000	0.47837	0.323000	0.23307	-0.792000	0.03331	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	1	0	1	26	121	0	27	1	9.135551e-01	3	19	0	27	2		0	0	0	0	0	2	1	9.999999e-01	25	117	0	27	2								-20.000000	1	1	120798	1	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
KIAA0586	9786	broad.mit.edu	37	14	58953763	58953763	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58953763G>A	ENST00000556134.1	+	23	3412	c.3138G>A	c.(3136-3138)acG>acA	p.T1046T	KIAA0586_ENST00000261244.5_Silent_p.T985T|KIAA0586_ENST00000354386.6_Silent_p.T1114T|KIAA0586_ENST00000423743.3_Silent_p.T1017T|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586			34					CACAGCCTACGCCTCCTTGCT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000556134.1	0	1	hg19	CCDS58321.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	0	0	0	13	388	0	73	1	3.645692e-01	2	35	0	73	2		0	0	0	0	0	2	1	9.994871e-01	13	381	0	73	2								-3.194675	1	1	120868	4	40	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.380000	0.210000	0.610000	0.370000	0.401893	0.380000	0	2.900000e-01	5.000000e-01
DACT1	51339	broad.mit.edu	37	14	59105255	59105255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59105255G>A	ENST00000335867.4	+	1	359	c.335G>A	c.(334-336)aGa>aAa	p.R112K	DACT1_ENST00000556859.1_Intron|DACT1_ENST00000395153.3_Missense_Mutation_p.R112K|DACT1_ENST00000541264.2_5'Flank|DACT1_ENST00000555845.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1			53					TTGCTGCTAAGAAAGCAATTG	0.677000																								0							SO:0001583	missense			ENST00000335867.4	0	1	hg19	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043459	0.07452	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.44482	0.92;0.92	3.3	3.3	0.37823	.	0.070956	0.49916	D	0.000127	T	0.22399	0.0540	L	0.31420	0.93	0.80722	D	1	B;B	0.31318	0.079;0.319	B;B	0.26416	0.039;0.069	T	0.08166	-1.0735	10	0.02654	T	1	-9.7086	8.7631	0.34687	0.107:0.0:0.893:0.0	.	112;112	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	112	ENSP00000378582:R112K;ENSP00000337439:R112K	ENSP00000337439:R112K	R	+	2	0	DACT1	58175008	1.000000	0.71417	0.999000	0.59377	0.197000	0.23852	4.141000	0.58038	1.673000	0.50895	0.313000	0.20887	AGA		TCGA-IB-7651-01A-11D-2154-08	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	1	0	1	16	95	0	14	0	9.640726e-01	0	36	0	14	2		0	0	0	0	0	2	1	9.999454e-01	16	92	0	14	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997510	0.990000	1	9.900000e-01	1
DACT1	51339	broad.mit.edu	37	14	59112077	59112077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112077G>A	ENST00000335867.4	+	4	760	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	DACT1_ENST00000556859.1_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000555845.1_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1			53					TTCCCTTGATGTCATTGCAGA	0.468000																								0							SO:0001583	missense			ENST00000335867.4	1	1	hg19	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153085	0.38021	.	.	ENSG00000165617	ENST00000335867	T	0.44482	0.92	5.71	4.8	0.61643	.	0.288933	0.33438	N	0.004919	T	0.40094	0.1103	M	0.65975	2.015	0.80722	D	1	B	0.28350	0.208	B	0.25759	0.063	T	0.32693	-0.9897	10	0.08179	T	0.78	-18.6973	16.529	0.84353	0.0:0.1309:0.8691:0.0	.	246	Q9NYF0	DACT1_HUMAN	I	246	ENSP00000337439:V246I	ENSP00000337439:V246I	V	+	1	0	DACT1	58181830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	1.382000	0.46385	0.563000	0.77884	GTC		TCGA-IB-7651-01A-11D-2154-08	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	1	0	1	75	378	0	76	0	9.753790e-01	0	32	0	76	2		0	0	0	0	0	2	1	1	73	374	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DACT1	51339	broad.mit.edu	37	14	59112781	59112781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112781G>T	ENST00000335867.4	+	4	1464	c.1440G>T	c.(1438-1440)caG>caT	p.Q480H	DACT1_ENST00000556859.1_Missense_Mutation_p.Q199H|DACT1_ENST00000395153.3_Missense_Mutation_p.Q443H|DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1			53					AAAGCGCTCAGCTCTCAGGGG	0.557000																								0							SO:0001583	missense			ENST00000335867.4	1	1	hg19	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633905	0.03584	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.35	1.47	0.22746	.	0.528596	0.21428	N	0.074714	T	0.41743	0.1172	M	0.65975	2.015	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39187	-0.9626	10	0.54805	T	0.06	-2.8615	7.1379	0.25539	0.2076:0.1239:0.6685:0.0	.	443;480	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	H	199;199;443;480;199	ENSP00000451598:Q199H;ENSP00000378581:Q199H;ENSP00000378582:Q443H;ENSP00000337439:Q480H;ENSP00000442850:Q199H	ENSP00000337439:Q480H	Q	+	3	2	DACT1	58182534	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.210000	0.09345	0.250000	0.21479	-0.244000	0.11960	CAG		TCGA-IB-7651-01A-11D-2154-08	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	0	0	0	19	689	0	134	0	4.723623e-01	0	57	0	134	2		0	0	0	0	0	2	1	9.999888e-01	19	676	0	133	2								-3.512256	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.310000	0.190000	0.470000	0.310000	0.327660	0.310000	0	2.500000e-01	4.000000e-01
DAAM1	23002	broad.mit.edu	37	14	59730276	59730276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59730276G>A	ENST00000395125.1	+	1	104	c.81G>A	c.(79-81)acG>acA	p.T27T	DAAM1_ENST00000360909.3_Silent_p.T27T|DAAM1_ENST00000556135.1_Silent_p.T27T|DAAM1_ENST00000351081.1_Silent_p.T27T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1			37					CAGAAATCACGTATCGGCTGC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000395125.1	1	1	hg19	CCDS9737.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1	97	421	0	87	1	9.997655e-01	12	43	0	87	2		0	0	0	0	0	2	1	1	97	415	0	85	2								-20.000000	1	1	121412	2	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAAM1	23002	broad.mit.edu	37	14	59797313	59797313	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59797313A>C	ENST00000395125.1	+	12	1490	c.1467A>C	c.(1465-1467)aaA>aaC	p.K489N	DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N|DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1			37					CCTTAAATAAAATGAAAGAGA	0.448000																								0							SO:0001583	missense			ENST00000395125.1	1	1	hg19	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158223	0.38119	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.33216	1.42;1.42;1.42	5.98	1.19	0.21007	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.59912	1.85	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.16928	-1.0386	10	0.38643	T	0.18	.	8.9768	0.35941	0.5712:0.0:0.4288:0.0	.	489;489	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	N	489	ENSP00000354162:K489N;ENSP00000247170:K489N;ENSP00000378557:K489N	ENSP00000247170:K489N	K	+	3	2	DAAM1	58867066	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	2.139000	0.42149	0.181000	0.19994	-0.256000	0.11100	AAA		TCGA-IB-7651-01A-11D-2154-08	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1	52	286	0	51	1	9.812841e-01	6	31	0	51	2		0	0	0	0	0	2	1	1	52	285	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DAAM1	23002	broad.mit.edu	37	14	59814285	59814285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59814285C>T	ENST00000395125.1	+	17	2157	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W|DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1			37					CGAAATCAAACGGGCAATTCT	0.373000																								0							SO:0001583	missense			ENST00000395125.1	1	1	hg19	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261330	0.80246	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.35236	1.32;1.32;1.32	6.06	5.16	0.70880	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.978;0.995	T	0.73799	-0.3869	10	0.72032	D	0.01	.	16.6315	0.85035	0.131:0.869:0.0:0.0	.	702;712	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	W	702;712;712;712	ENSP00000354162:R702W;ENSP00000247170:R712W;ENSP00000378557:R712W	ENSP00000247170:R712W	R	+	1	2	DAAM1	58884038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.930000	0.48924	1.523000	0.49018	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1	21	167	0	42	1	9.839707e-01	10	46	0	42	2		0	0	0	0	0	2	1	9.999980e-01	21	164	0	42	2								-20.000000	1	1	121410	2	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.840000	1.000000	1.000000	0.989402	0.990000	1	9.900000e-01	1
DAAM1	23002	broad.mit.edu	37	14	59835462	59835462	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59835462G>T	ENST00000395125.1	+	25	3145	c.3122G>T	c.(3121-3123)cGc>cTc	p.R1041L	DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1			37					TCAGCTTTACGCTCAGGAGAA	0.413000																								0							SO:0001583	missense			ENST00000395125.1	1	1	hg19	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842526	0.91197	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82344	-1.6;-1.6;-1.6	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.050738	0.85682	D	0.000000	D	0.91382	0.7281	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91773	0.5429	10	0.87932	D	0	.	19.7154	0.96115	0.0:0.0:1.0:0.0	.	1031;1041	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	1031;1041;1041	ENSP00000354162:R1031L;ENSP00000247170:R1041L;ENSP00000378557:R1041L	ENSP00000247170:R1041L	R	+	2	0	DAAM1	58905215	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.807000	0.99171	2.664000	0.90586	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1	51	185	0	40	1	9.999571e-01	13	45	0	40	2		0	0	0	0	0	2	1	1	51	179	0	39	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTN1	6252	broad.mit.edu	37	14	60074020	60074020	+	Silent	SNP	G	G	A	rs113101447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60074020G>A	ENST00000267484.5	-	4	2291	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Silent_p.D69D|RTN1_ENST00000342503.4_Silent_p.D84D	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1			49					GGTGGCCTTCGTCGGTTTTCT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000267484.5	1	1	hg19	CCDS9740.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2	1	0	1	28	121	0	21	0	9.823990e-01	0	31	0	21	2		0	0	0	0	0	2	1	1	28	119	0	21	2								-3.531284	1	1	121412	30	45	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
RTN1	6252	broad.mit.edu	37	14	60212623	60212623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60212623C>T	ENST00000267484.5	-	2	1153	c.818G>A	c.(817-819)aGg>aAg	p.R273K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1			49					CTGAGGAGCCCTGCGCTGTTC	0.453000																								0							SO:0001583	missense			ENST00000267484.5	1	1	hg19	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390455	0.11581	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.22134	1.97	5.53	0.326	0.15908	.	1.177410	0.05768	N	0.606107	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.28427	-1.0044	10	0.05525	T	0.97	.	1.0774	0.01635	0.2215:0.3573:0.1084:0.3128	.	273	Q16799	RTN1_HUMAN	K	273;199	ENSP00000267484:R273K	ENSP00000267484:R273K	R	-	2	0	RTN1	59282376	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	0.556000	0.23438	0.036000	0.15547	-0.259000	0.10710	AGG		TCGA-IB-7651-01A-11D-2154-08	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2	1	0	1	117	549	0	114	0	9.616826e-01	0	27	0	114	2		0	0	0	0	0	2	1	1	113	538	0	114	2								-3.044711	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C14orf39	317761	broad.mit.edu	37	14	60921756	60921756	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60921756T>C	ENST00000321731.3	-	16	1625	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39			30					TACAGAAGAATCAAATAAATT	0.308000																								0							SO:0001583	missense			ENST00000321731.3	1	1	hg19	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002911	0.35320	.	.	ENSG00000179008	ENST00000321731	T	0.32023	1.47	5.84	5.84	0.93424	.	0.082515	0.52532	D	0.000080	T	0.53158	0.1779	M	0.67953	2.075	0.44345	D	0.997235	D	0.76494	0.999	D	0.74674	0.984	T	0.56195	-0.8019	10	0.87932	D	0	-20.2714	13.5881	0.61944	0.0:0.0:0.0:1.0	.	489	Q8N1H7	S6OS1_HUMAN	G	489	ENSP00000324920:D489G	ENSP00000324920:D489G	D	-	2	0	C14orf39	59991509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.015000	0.49599	2.234000	0.73211	0.459000	0.35465	GAT		TCGA-IB-7651-01A-11D-2154-08	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	1	0	1	39	189	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	38	186	0	100	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SIX6	4990	broad.mit.edu	37	14	60977961	60977961	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60977961C>T	ENST00000327720.5	+	2	1180	c.732C>T	c.(730-732)tgC>tgT	p.C244C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6			11					ACAGCGAGTGCGACATCTGAG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000327720.5	1	1	hg19	CCDS9747.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2	1	0	0	30	337	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	30	329	0	81	2								-3.142702	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.950000	0.660000	1.000000	1.000000	0.917531	0.950000	1	7.900000e-01	1
SIX1	6495	broad.mit.edu	37	14	61113260	61113260	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61113260T>C	ENST00000247182.6	-	2	868	c.596A>G	c.(595-597)aAg>aGg	p.K199R	SIX1_ENST00000554986.1_Missense_Mutation_p.K26R	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1			13					TTGGTTCTGCTTGTTGGAGGA	0.428000																								0							SO:0001583	missense			ENST00000247182.6	1	1	hg19	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.010109	0.93346	.	.	ENSG00000126778	ENST00000247182;ENST00000555955;ENST00000553535	D;D;D	0.86956	-2.19;-2.18;-2.18	5.19	5.19	0.71726	.	0.045211	0.85682	D	0.000000	T	0.78641	0.4315	N	0.24115	0.695	0.58432	D	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.72915	-0.4147	10	0.16896	T	0.51	-23.9489	15.22	0.73303	0.0:0.0:0.0:1.0	.	199	Q15475	SIX1_HUMAN	R	199;15;15	ENSP00000247182:K199R;ENSP00000450952:K15R;ENSP00000450739:K15R	ENSP00000247182:K199R	K	-	2	0	SIX1	60183013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.815000	0.69215	2.177000	0.69029	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3	0	0	0	13	341	0	58	1	3.010771e-01	3	25	0	58	2		0	0	0	0	0	2	1	9.994933e-01	13	334	0	57	2								-13.643730	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.430000	0.240000	0.690000	0.430000	0.454186	0.430000	0	3.300000e-01	5.700000e-01
SIX1	6495	broad.mit.edu	37	14	61115456	61115456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61115456G>A	ENST00000247182.6	-	1	724	c.452C>T	c.(451-453)cCg>cTg	p.P151L	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1			13					CTTCTCACGCGGCGATGGGTA	0.662000																								0							SO:0001583	missense			ENST00000247182.6	1	1	hg19	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344548	0.95807	.	.	ENSG00000126778	ENST00000247182	D	0.95918	-3.85	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.97063	0.9772	10	0.87932	D	0	-26.2444	20.0189	0.97489	0.0:0.0:1.0:0.0	.	151	Q15475	SIX1_HUMAN	L	151	ENSP00000247182:P151L	ENSP00000247182:P151L	P	-	2	0	SIX1	60185209	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.797000	0.99108	2.828000	0.97474	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3	1	0	1	55	252	0	64	1	9.080404e-01	5	16	0	64	2		0	0	0	0	0	2	1	1	55	251	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIX4	51804	broad.mit.edu	37	14	61180513	61180513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61180513A>G	ENST00000216513.4	-	3	2017	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4			28					GACAGATGTCACAGTAGATTT	0.483000																								0							SO:0001583	missense			ENST00000216513.4	1	1	hg19	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699771	0.30142	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92099	-2.97;0.67	5.41	3.01	0.34805	.	0.806408	0.11312	N	0.577045	D	0.82779	0.5111	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.70156	-0.4949	10	0.23891	T	0.37	.	7.3826	0.26864	0.6588:0.2713:0.07:0.0	.	653	Q9UIU6	SIX4_HUMAN	A	653;326	ENSP00000216513:V653A;ENSP00000451537:V326A	ENSP00000216513:V653A	V	-	2	0	SIX4	60250266	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.702000	0.47102	0.422000	0.26005	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2	1	0	1	24	155	0	36	1	4.573228e-01	4	7	0	36	2		0	0	0	0	0	2	1	9.999997e-01	22	151	0	36	2								-20.000000	1	1	121412	1	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998789	0.990000	1	9.900000e-01	1
SIX4	51804	broad.mit.edu	37	14	61186709	61186709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186709C>T	ENST00000216513.4	-	2	1377	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4			28					GAGACAGGGACACTGGGGCTG	0.512000																								0							SO:0001583	missense			ENST00000216513.4	1	1	hg19	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594048	0.28445	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90563	-2.69;0.92	5.72	5.72	0.89469	.	0.748974	0.13273	N	0.400382	T	0.78966	0.4367	N	0.08118	0	0.22591	N	0.998956	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63220	-0.6686	10	0.17369	T	0.5	.	8.5689	0.33556	0.1536:0.7653:0.0:0.0811	.	432;440	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	440;113;432	ENSP00000216513:V440I;ENSP00000451537:V113I	ENSP00000216513:V440I	V	-	1	0	SIX4	60256462	0.999000	0.42202	1.000000	0.80357	0.957000	0.61999	2.017000	0.40981	2.717000	0.92951	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2	1	0	1	103	469	0	133	0	5.037997e-01	1	8	0	133	2		0	0	0	0	0	2	1	1	101	466	0	131	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIX4	51804	broad.mit.edu	37	14	61186943	61186943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186943C>T	ENST00000216513.4	-	2	1143	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4			28					TTAAGGAAGACAGGTGAAGTA	0.403000																								0							SO:0001583	missense			ENST00000216513.4	1	1	hg19	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377563	0.82682	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.91740	-2.9;0.11	5.62	5.62	0.85841	.	0.066731	0.64402	D	0.000014	D	0.93779	0.8011	L	0.29908	0.895	0.53688	D	0.999974	D;P	0.67145	0.996;0.9	D;B	0.77557	0.99;0.36	D	0.94100	0.7361	10	0.56958	D	0.05	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	354;362	G3V2N2;Q9UIU6	.;SIX4_HUMAN	I	362;35;354	ENSP00000216513:V362I;ENSP00000451537:V35I	ENSP00000216513:V362I	V	-	1	0	SIX4	60256696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.660000	0.90430	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2	1	0	0	17	402	0	86	0	2.520723e-02	0	6	0	86	2		0	0	0	0	0	2	1	9.999619e-01	17	396	0	85	2								-16.913940	1	1	121412	1	28	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.480000	0.290000	0.720000	0.470000	0.494888	0.480000	0	3.700000e-01	6.000000e-01
TRMT5	57570	broad.mit.edu	37	14	61442419	61442419	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61442419C>T	ENST00000261249.6	-	4	1602	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	RNU6-398P_ENST00000384143.1_RNA|RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5			11					TGCTGCATGGCTGCCCATCTA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000261249.6	1	1	hg19	CCDS32092.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	1	0	1	66	279	0	88	1	9.999024e-01	22	38	0	88	2		0	0	0	0	0	2	1	1	65	274	0	88	2								-3.417588	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCH	5583	broad.mit.edu	37	14	62014512	62014512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62014512G>A	ENST00000332981.5	+	13	2198	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A|PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K|RP11-47I22.1_ENST00000556543.1_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta			25					TCAGGGAGGCGAGCACGCCAT	0.498000													Melanoma(135;863 1779 8064 14443 26348)											0							SO:0001583	missense			ENST00000332981.5	1	1	hg19	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424392	0.96111	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.53206	0.63;0.63	5.99	5.99	0.97316	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.61311	0.2337	L	0.33137	0.985	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.61123	-0.7126	10	0.66056	D	0.02	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	605	P24723	KPCL_HUMAN	K	605;444	ENSP00000329127:E605K;ENSP00000450981:E444K	ENSP00000329127:E605K	E	+	1	0	PRKCH	61084265	1.000000	0.71417	0.927000	0.36925	0.595000	0.36748	9.805000	0.99149	2.840000	0.97914	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	1	0	1	290	1417	0	452	1	9.999582e-01	7	63	0	452	2		0	0	0	0	0	2	1	1	290	1393	0	448	2								-20.000000	1	1	121412	1	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIF1A	3091	broad.mit.edu	37	14	62207888	62207888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62207888C>A	ENST00000337138.4	+	12	2340	c.2075C>A	c.(2074-2076)tCt>tAt	p.S692Y	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.S693Y|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)			23				Carvedilol(DB01136)	AACGTGTTATCTGTCGCTTTG	0.333000																								0							SO:0001583	missense			ENST00000337138.4	1	1	hg19	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136336	0.37728	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.56776	0.59;0.59;0.44;0.59;0.58	5.72	5.72	0.89469	.	1.828410	0.02128	N	0.056185	T	0.57359	0.2048	L	0.48642	1.525	0.37396	D	0.912625	P;P;P	0.42357	0.777;0.731;0.731	B;B;B	0.37047	0.232;0.24;0.24	T	0.60342	-0.7282	10	0.66056	D	0.02	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	693;692;692	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	Y	443;633;692;693;692;633;716	ENSP00000338018:S692Y;ENSP00000378446:S693Y;ENSP00000323326:S692Y;ENSP00000451696:S633Y;ENSP00000437955:S716Y	ENSP00000323326:S692Y	S	+	2	0	HIF1A	61277641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.937000	0.56575	2.857000	0.98124	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	1	0	1	65	310	0	52	1	1	156	576	0	52	2		0	0	0	0	0	2	1	1	64	297	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNAPC1	6617	broad.mit.edu	37	14	62234006	62234006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62234006C>T	ENST00000216294.4	+	3	469	c.365C>T	c.(364-366)gCa>gTa	p.A122V	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa			13					CATTTTGATGCAGCTTATATT	0.348000													NSCLC(27;223 907 37180 39193 46568)											0							SO:0001583	missense			ENST00000216294.4	1	1	hg19	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810662	0.50421	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.96	5.08	0.68730	.	0.095752	0.64402	N	0.000001	T	0.45796	0.1360	N	0.20357	0.565	0.46701	D	0.999162	B	0.26120	0.142	B	0.31869	0.137	T	0.34403	-0.9830	9	0.26408	T	0.33	-3.289	15.1923	0.73053	0.0:0.9328:0.0:0.0672	.	122	Q16533	SNPC1_HUMAN	V	122	.	ENSP00000216294:A122V	A	+	2	0	SNAPC1	61303759	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.014000	0.57145	1.533000	0.49186	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	1	0	1	75	256	0	54	1	9.991718e-01	5	34	0	54	2		0	0	0	0	0	2	1	1	73	252	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH5	27133	broad.mit.edu	37	14	63175128	63175128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63175128G>A	ENST00000322893.7	-	11	2333	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5			99					TGCCGGAGGCGCTCCTCCTCC	0.498000																								0							SO:0001583	missense			ENST00000322893.7	1	1	hg19	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172220	0.57584	.	.	ENSG00000140015	ENST00000322893	T	0.18502	2.21	5.72	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.58101	1.795	0.80722	D	1	D	0.64830	0.994	P	0.51657	0.676	T	0.01162	-1.1432	10	0.52906	T	0.07	.	11.0615	0.47950	0.0667:0.0:0.8045:0.1289	.	689	Q8NCM2	KCNH5_HUMAN	C	689	ENSP00000321427:R689C	ENSP00000321427:R689C	R	-	1	0	KCNH5	62244881	1.000000	0.71417	0.791000	0.31998	0.983000	0.72400	4.606000	0.61126	0.763000	0.33175	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1	120	431	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	117	425	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH5	27133	broad.mit.edu	37	14	63246595	63246595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63246595C>T	ENST00000322893.7	-	10	2138	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5			99					CATGCATGGGCAAGGGTGGTT	0.438000																								0							SO:0001583	missense			ENST00000322893.7	1	1	hg19	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401805	0.83120	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.98926	-5.24;-5.04	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.41124	1.26	0.80722	D	1	P;D	0.64830	0.823;0.994	P;D	0.69479	0.535;0.964	D	0.99864	1.1087	10	0.54805	T	0.06	.	19.8759	0.96870	0.0:1.0:0.0:0.0	.	566;624	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	T	624;566	ENSP00000321427:A624T;ENSP00000378419:A566T	ENSP00000321427:A624T	A	-	1	0	KCNH5	62316348	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.814000	0.86154	2.704000	0.92352	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1	48	196	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	48	189	0	39	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH5	27133	broad.mit.edu	37	14	63269112	63269112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269112G>A	ENST00000322893.7	-	9	2025	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V|KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5			99					AAAGCAGAGGGCATCCACACT	0.517000																								0							SO:0001583	missense			ENST00000322893.7	1	1	hg19	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720742	0.48728	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96802	-3.09;-4.13;-3.09	4.93	4.93	0.64822	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.173476	0.52532	D	0.000080	D	0.95582	0.8564	L	0.56340	1.77	0.80722	D	1	B;B;B	0.29341	0.01;0.01;0.242	B;B;B	0.36766	0.015;0.009;0.232	D	0.94704	0.7886	10	0.54805	T	0.06	.	18.4893	0.90841	0.0:0.0:1.0:0.0	.	528;586;586	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	V	586;586;528	ENSP00000321427:A586V;ENSP00000395439:A586V;ENSP00000378419:A528V	ENSP00000321427:A586V	A	-	2	0	KCNH5	62338865	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.913000	0.56394	2.449000	0.82847	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1	76	338	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	75	332	0	77	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH5	27133	broad.mit.edu	37	14	63269190	63269190	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269190C>T	ENST00000322893.7	-	9	1947	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5			99					CGCCAAGGCGCGCAGACACCC	0.507000																								0							SO:0001583	missense			ENST00000322893.7	1	1	hg19	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509708	0.85282	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96885	-4.16;-4.16;-4.16	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99445	1.0939	10	0.87932	D	0	.	15.065	0.71986	0.1432:0.8568:0.0:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	H	560;560;502	ENSP00000321427:R560H;ENSP00000395439:R560H;ENSP00000378419:R502H	ENSP00000321427:R560H	R	-	2	0	KCNH5	62338943	1.000000	0.71417	0.865000	0.33974	0.885000	0.51271	6.029000	0.70895	1.262000	0.44165	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1	65	321	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	64	316	0	93	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000394964.2_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5			99					GGGCAAATTTCGTCCAACCTT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000322893.7	1	1	hg19	CCDS9756.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	0	65	267	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	65	265	0	64	2								-3.574837	1	1	121396	2	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH5	27133	broad.mit.edu	37	14	63473112	63473112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63473112G>T	ENST00000322893.7	-	3	544	c.276C>A	c.(274-276)tgC>tgA	p.C92*	KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5			99					GAACTTCAAAGCAGTTTGATT	0.353000																								0							SO:0001587	stop_gained			ENST00000322893.7	0	1	hg19	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643477	0.96704	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	.	.	.	5.35	0.143	0.14820	.	0.046540	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0009	0.36081	0.4595:0.0:0.5405:0.0	.	.	.	.	X	92;92;34;34	.	ENSP00000321427:C92X	C	-	3	2	KCNH5	62542865	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	1.085000	0.30840	-0.203000	0.10251	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	1	0	1	40	271	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	40	265	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999722	0.990000	1	9.900000e-01	1
PPP2R5E	5529	broad.mit.edu	37	14	64006314	64006314	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64006314C>T	ENST00000337537.3	-	2	692	c.90G>A	c.(88-90)tcG>tcA	p.S30S	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Silent_p.S30S	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform			15					AGGAACTTTGCGACCTCTTCT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000337537.3	1	1	hg19	CCDS9758.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	0	0	0	13	418	0	82	1	7.905768e-01	4	92	0	82	2		0	0	0	0	0	2	1	9.995267e-01	13	415	0	82	2								-2.707675	1	1	121412	18	44	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.350000	0.200000	0.570000	0.350000	0.374376	0.350000	0	2.700000e-01	4.700000e-01
WDR89	112840	broad.mit.edu	37	14	64066119	64066119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64066119C>T	ENST00000394942.2	-	2	630	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89			14					GTTGGGATTGCTGGGATGGAA	0.393000																								0							SO:0001583	missense			ENST00000394942.2	1	1	hg19	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303448	0.23736	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.60920	0.15;0.15;0.15	6.02	1.5	0.22942	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.585075	0.19934	N	0.102794	T	0.23649	0.0572	N	0.02854	-0.475	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.07809	-1.0753	10	0.21014	T	0.42	.	1.9776	0.03419	0.1223:0.4161:0.2101:0.2514	.	181	Q96FK6	WDR89_HUMAN	N	181	ENSP00000378399:S181N;ENSP00000267522:S181N;ENSP00000451702:S181N	ENSP00000267522:S181N	S	-	2	0	WDR89	63135872	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	0.056000	0.14256	0.887000	0.36136	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	1	0	1	81	402	0	101	1	9.975728e-01	14	33	0	101	2		0	0	0	0	0	2	1	1	80	398	0	97	2								-3.239104	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGPP1	81537	broad.mit.edu	37	14	64152848	64152848	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64152848A>G	ENST00000247225.6	-	3	1395	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1			10					AAAGAAAAATATGTAAGGAAC	0.343000																								0							SO:0001583	missense			ENST00000247225.6	0	1	hg19	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061569	0.36373	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.382330	0.26757	N	0.022650	T	0.42426	0.1202	L	0.40543	1.245	0.27067	N	0.963403	B	0.28713	0.22	B	0.24541	0.054	T	0.45145	-0.9281	9	0.66056	D	0.02	-5.5979	16.6406	0.85098	1.0:0.0:0.0:0.0	.	434	Q9BX95	SGPP1_HUMAN	T	434	.	ENSP00000247225:I434T	I	-	2	0	SGPP1	63222601	1.000000	0.71417	0.770000	0.31555	0.818000	0.46254	6.928000	0.75846	2.326000	0.78906	0.533000	0.62120	ATA		TCGA-IB-7651-01A-11D-2154-08	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	0	0	0	26	112	0	24	1	9.999360e-01	21	50	0	24	2		0	0	0	0	0	2	1	1	26	110	0	24	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64434512	64434512	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64434512T>C	ENST00000344113.4	+	11	1288	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.L359P|SYNE2_ENST00000554584.1_Missense_Mutation_p.L359P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					CTGGATGAGCTGGACAAGGAT	0.428000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	7.910	0.736240	0.15574	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.62364	0.38;0.38;0.03	5.24	2.8	0.32819	.	0.454238	0.16247	N	0.222862	T	0.56292	0.1975	M	0.61703	1.905	0.80722	D	1	B;B	0.32800	0.266;0.385	B;B	0.33295	0.077;0.161	T	0.53718	-0.8399	10	0.87932	D	0	.	6.9347	0.24461	0.0:0.0775:0.1499:0.7727	.	359;359	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	359	ENSP00000350719:L359P;ENSP00000341781:L359P;ENSP00000452570:L359P	ENSP00000261678:L359P	L	+	2	0	SYNE2	63504265	0.033000	0.19621	0.323000	0.25347	0.034000	0.12701	0.576000	0.23744	0.284000	0.22305	0.482000	0.46254	CTG		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	0	0	1	87	376	0	101	1	9.855833e-01	10	21	0	101	2		0	0	0	0	0	2	1	1	83	359	0	101	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64489508	64489508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64489508A>G	ENST00000344113.4	+	38	5776	c.5564A>G	c.(5563-5565)aAa>aGa	p.K1855R	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.K1855R|SYNE2_ENST00000554584.1_Missense_Mutation_p.K1855R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					AGCAACATTAAAGTGAACCTT	0.318000																								0							SO:0001583	missense			ENST00000344113.4	0	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432125	0.25813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.61627	0.48;0.48;0.09	5.75	4.6	0.57074	.	0.471996	0.19589	N	0.110667	T	0.44685	0.1305	L	0.27053	0.805	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.16722	0.007;0.016	T	0.32025	-0.9922	10	0.54805	T	0.06	.	10.5232	0.44931	0.9264:0.0:0.0736:0.0	.	1855;1855	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	R	1855	ENSP00000350719:K1855R;ENSP00000341781:K1855R;ENSP00000452570:K1855R	ENSP00000261678:K1855R	K	+	2	0	SYNE2	63559261	1.000000	0.71417	0.702000	0.30337	0.085000	0.17905	3.292000	0.51772	0.993000	0.38866	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0	7	132	0	20	0	7.615499e-01	0	53	0	20	2		0	0	0	0	0	2	1	9.814829e-01	7	132	0	20	2								-4.436380	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.610000	0.270000	1.000000	1.000000	0.632511	0.610000	0	4.200000e-01	8.500000e-01
SYNE2	23224	broad.mit.edu	37	14	64496734	64496734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64496734C>A	ENST00000344113.4	+	44	7048	c.6836C>A	c.(6835-6837)cCt>cAt	p.P2279H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.P2279H|SYNE2_ENST00000554584.1_Missense_Mutation_p.P2279H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					TCTGATAAGCCTGTGGATCAA	0.378000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609305	0.28623	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.36878	1.23;1.23;1.23	5.03	3.17	0.36434	.	0.856008	0.10108	N	0.715018	T	0.33818	0.0876	N	0.24115	0.695	0.19945	N	0.999941	D;D	0.61697	0.983;0.99	P;P	0.56474	0.635;0.799	T	0.05550	-1.0878	10	0.07813	T	0.8	.	9.4087	0.38477	0.0:0.8198:0.0:0.1802	.	2279;2279	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2279	ENSP00000350719:P2279H;ENSP00000341781:P2279H;ENSP00000452570:P2279H	ENSP00000261678:P2279H	P	+	2	0	SYNE2	63566487	0.014000	0.17966	0.009000	0.14445	0.889000	0.51656	2.798000	0.47884	1.249000	0.43950	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	37	155	0	44	1	9.971311e-01	15	26	0	44	2		0	0	0	0	0	2	1	1	36	151	0	44	2								-3.464792	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64518405	64518405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518405G>A	ENST00000344113.4	+	48	7986	c.7774G>A	c.(7774-7776)Gat>Aat	p.D2592N	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2592N|SYNE2_ENST00000554584.1_Missense_Mutation_p.D2625N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					GACTGACATGGATAAGAAATT	0.348000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365146	0.41902	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.73152	1.15;1.15;-0.72	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000009	T	0.78438	0.4283	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77230	-0.2664	10	0.45353	T	0.12	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	2592;2592	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	2592;2592;2625;2625	ENSP00000350719:D2592N;ENSP00000341781:D2592N;ENSP00000452570:D2625N	ENSP00000261678:D2625N	D	+	1	0	SYNE2	63588158	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	6.394000	0.73223	2.788000	0.95919	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	68	261	0	59	1	9.977311e-01	4	34	0	59	2		0	0	0	0	0	2	1	1	68	260	0	59	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64518467	64518467	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518467G>T	ENST00000344113.4	+	48	8048	c.7836G>T	c.(7834-7836)caG>caT	p.Q2612H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q2612H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2645H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					AAGTGGAACAGCAGATTCAAA	0.398000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	0.133	-1.111435	0.01813	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58358	1.27;1.27;0.34	5.91	-11.5	0.00074	.	0.216802	0.32386	N	0.006174	T	0.32763	0.0840	L	0.34521	1.04	0.58432	D	0.999992	B;B	0.24368	0.062;0.102	B;B	0.25759	0.028;0.063	T	0.37079	-0.9721	10	0.46703	T	0.11	.	14.6757	0.68978	0.2302:0.2164:0.5534:0.0	.	2612;2612	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	2612;2612;2645;2645	ENSP00000350719:Q2612H;ENSP00000341781:Q2612H;ENSP00000452570:Q2645H	ENSP00000261678:Q2645H	Q	+	3	2	SYNE2	63588220	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-3.055000	0.00626	-2.273000	0.00681	-1.053000	0.02334	CAG		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	70	370	0	73	1	9.986111e-01	25	29	0	73	2		0	0	0	0	0	2	1	1	69	362	0	72	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64519119	64519119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64519119G>T	ENST00000344113.4	+	48	8700	c.8488G>T	c.(8488-8490)Gaa>Taa	p.E2830*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E2830*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2863*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					ACAGCAATTAGAATTTAAGTT	0.343000																								0							SO:0001587	stop_gained			ENST00000344113.4	0	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	50	16.124919	0.99855	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.543	0.50677	0.0821:0.0:0.9179:0.0	.	.	.	.	X	2830;2830;2863;2863	.	ENSP00000261678:E2863X	E	+	1	0	SYNE2	63588872	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	3.719000	0.54926	2.475000	0.83589	0.313000	0.20887	GAA		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	57	220	0	68	1	9.845920e-01	2	26	0	68	2		0	0	0	0	0	2	1	1	57	213	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64520359	64520359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64520359G>T	ENST00000344113.4	+	48	9940	c.9728G>T	c.(9727-9729)aGc>aTc	p.S3243I	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3243I|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3276I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					CTTAACACAAGCATTGATTTG	0.453000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004126	0.35320	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34667	1.35;1.35;1.35	5.67	3.84	0.44239	.	0.179555	0.40818	N	0.001004	T	0.36552	0.0971	L	0.27053	0.805	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.61201	0.77;0.885	T	0.12656	-1.0539	10	0.34782	T	0.22	.	5.7365	0.18069	0.306:0.0:0.694:0.0	.	3243;3243	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	3243;3243;3276;3276	ENSP00000350719:S3243I;ENSP00000341781:S3243I;ENSP00000452570:S3276I	ENSP00000261678:S3276I	S	+	2	0	SYNE2	63590112	1.000000	0.71417	0.165000	0.22776	0.703000	0.40648	1.600000	0.36762	1.403000	0.46800	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	53	291	0	59	1	9.916008e-01	16	27	0	59	2		0	0	0	0	0	2	1	1	51	286	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64532244	64532244	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532244G>T	ENST00000344113.4	+	51	10519	c.10307G>T	c.(10306-10308)gGc>gTc	p.G3436V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.G3436V|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G3469V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					GAAAATGATGGCATATGTTTG	0.443000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302938	0.23736	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.47528	1.41;0.84;1.41;4.19	5.2	0.842	0.18927	.	0.684405	0.14471	N	0.317589	T	0.24851	0.0603	N	0.19112	0.55	0.09310	N	0.999998	B;P	0.36183	0.407;0.542	B;B	0.34385	0.088;0.181	T	0.10730	-1.0617	10	0.41790	T	0.15	.	1.6822	0.02834	0.2422:0.184:0.4448:0.1291	.	3436;3436	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	3436;3436;3469;3469;70	ENSP00000350719:G3436V;ENSP00000341781:G3436V;ENSP00000452570:G3469V;ENSP00000450831:G70V	ENSP00000261678:G3469V	G	+	2	0	SYNE2	63601997	0.007000	0.16637	0.000000	0.03702	0.264000	0.26372	1.415000	0.34748	0.171000	0.19730	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0	20	309	0	49	1	8.694665e-01	5	53	0	49	2		0	0	0	0	0	2	1	9.999952e-01	20	305	0	49	2								-6.154338	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.710000	0.450000	1.000000	1.000000	0.727835	0.710000	0	5.700000e-01	8.800000e-01
SYNE2	23224	broad.mit.edu	37	14	64532268	64532268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532268C>T	ENST00000344113.4	+	51	10543	c.10331C>T	c.(10330-10332)tCg>tTg	p.S3444L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3444L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	p.S3444L(1)|p.S3444>?(1)		224					AAGATTGTGTCGGCTCTGTGG	0.433000																								2	Substitution - Missense(1)|Complex(1)						SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.264	1.043958	0.19748	2.54E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.51325	1.3;0.71;1.3;4.09	5.61	1.7	0.24286	.	0.592105	0.15399	N	0.264435	T	0.28300	0.0699	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.18741	0.017;0.03	B;B	0.12156	0.003;0.007	T	0.15263	-1.0443	10	0.34782	T	0.22	.	6.4274	0.21778	0.0:0.5589:0.2442:0.1969	.	3444;3444	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	3444;3444;3477;3477;78	ENSP00000350719:S3444L;ENSP00000341781:S3444L;ENSP00000452570:S3477L;ENSP00000450831:S78L	ENSP00000261678:S3477L	S	+	2	0	SYNE2	63602021	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.058000	0.14301	0.107000	0.17824	-0.145000	0.13849	TCG		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	68	225	0	63	1	9.999996e-01	18	58	0	63	2		0	0	0	0	0	2	1	1	66	223	0	63	2								-4.169536	1	0	120908	5	41	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64542662	64542662	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64542662G>T	ENST00000344113.4	+	54	11078		c.e54-1		SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000394768.2_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					AATGCTTTTAGGAGCTTCAAA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924215	0.52653	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63612415	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.718000	0.74713	2.769000	0.95229	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0	12	255	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	9.990958e-01	12	251	0	47	2								-2.794655	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.530000	0.290000	0.850000	0.510000	0.555153	0.530000	0	4.000000e-01	7.000000e-01
SYNE2	23224	broad.mit.edu	37	14	64604534	64604534	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64604534C>T	ENST00000344113.4	+	79	14888	c.14676C>T	c.(14674-14676)caC>caT	p.H4892H	SYNE2_ENST00000357395.3_Silent_p.H1277H|SYNE2_ENST00000358025.3_Silent_p.H4892H|SYNE2_ENST00000555002.1_Silent_p.H1526H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.H4809H|SYNE2_ENST00000394768.2_Silent_p.H1277H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	p.H4892H(1)		224					GTGGAAAACACGCCCGGCTTT	0.403000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000344113.4	1	1	hg19	CCDS41963.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	80	312	0	71	1	1	53	66	0	71	2		0	0	0	0	0	2	1	1	78	307	0	71	2								-20.000000	1	1	121412	1	43	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64625366	64625366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64625366G>A	ENST00000344113.4	+	86	16028	c.15816G>A	c.(15814-15816)atG>atA	p.M5272I	SYNE2_ENST00000357395.3_Missense_Mutation_p.M1657I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					AAACCTCCATGCAGTCAGTTT	0.408000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424303	0.43020	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.77	2.98	0.34508	.	0.191659	0.37304	N	0.002151	T	0.24967	0.0606	M	0.62723	1.935	0.80722	D	1	B;B;B;B;B	0.29988	0.171;0.004;0.002;0.066;0.264	B;B;B;B;B	0.26094	0.038;0.011;0.004;0.025;0.066	T	0.04216	-1.0968	10	0.11182	T	0.66	.	8.582	0.33634	0.3021:0.0:0.6979:0.0	.	1657;5195;5189;5272;5272	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	I	5272;1657;5272;5189;5195;1906;1657	ENSP00000350719:M5272I;ENSP00000349969:M1657I;ENSP00000341781:M5272I;ENSP00000452570:M5189I;ENSP00000450831:M1906I;ENSP00000378249:M1657I	ENSP00000261678:M5195I	M	+	3	0	SYNE2	63695119	1.000000	0.71417	0.960000	0.40013	0.805000	0.45488	1.721000	0.38032	0.459000	0.27016	0.650000	0.86243	ATG		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	49	236	0	37	1	9.999994e-01	17	89	0	37	2		0	0	0	0	0	2	1	1	48	233	0	37	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64637136	64637136	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64637136C>T	ENST00000344113.4	+	94	17403	c.17191C>T	c.(17191-17193)Cgc>Tgc	p.R5731C	SYNE2_ENST00000357395.3_Missense_Mutation_p.R2116C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					GGGCCAGGAGCGCTTCAGCCT	0.512000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118488	0.20877	2.27E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.49139	0.79;4.07;0.8;4.12;4.07	5.68	-1.91	0.07641	.	0.348277	0.24523	N	0.037800	T	0.13457	0.0326	N	0.00841	-1.15	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.16247	-1.0409	10	0.51188	T	0.08	.	4.0351	0.09725	0.103:0.0822:0.2099:0.605	.	2116;119;5731;5731	Q8WXH0-7;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5731;2116;5731;2365;2116	ENSP00000350719:R5731C;ENSP00000349969:R2116C;ENSP00000341781:R5731C;ENSP00000450831:R2365C;ENSP00000378249:R2116C	ENSP00000341781:R5731C	R	+	1	0	SYNE2	63706889	0.000000	0.05858	0.002000	0.10522	0.678000	0.39670	-0.932000	0.03963	-0.583000	0.05921	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	26	123	0	21	1	1	45	128	0	21	2		0	0	0	0	0	2	1	9.999999e-01	24	120	0	21	2								-20.000000	1	0	121410	8	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64679654	64679654	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64679654C>T	ENST00000344113.4	+	105	19199	c.18987C>T	c.(18985-18987)ctC>ctT	p.L6329L	SYNE2_ENST00000357395.3_Silent_p.L2714L|SYNE2_ENST00000358025.3_Silent_p.L6329L|SYNE2_ENST00000555002.1_Silent_p.L2963L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Silent_p.L207L|SYNE2_ENST00000554584.1_Silent_p.L6288L|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000554805.1_Silent_p.L112L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					TGGAGGAACTCCACCGCTACT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000344113.4	1	1	hg19	CCDS41963.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	106	373	0	85	1	1	48	191	0	85	2		0	0	0	0	0	2	1	1	104	366	0	85	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE2	23224	broad.mit.edu	37	14	64691244	64691244	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64691244C>T	ENST00000344113.4	+	113	20591	c.20379C>T	c.(20377-20379)tcC>tcT	p.S6793S	SYNE2_ENST00000357395.3_Silent_p.S3178S|SYNE2_ENST00000358025.3_Silent_p.S6816S|SYNE2_ENST00000555002.1_Silent_p.S3450S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Silent_p.S671S|SYNE2_ENST00000554584.1_Silent_p.S6709S|SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000458046.2_Silent_p.S464S|SYNE2_ENST00000554805.1_Silent_p.S576S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					CTGCAACATCCGTGCCAGCTC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000344113.4	1	1	hg19	CCDS41963.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	0	0	0	14	502	0	110	1	9.918925e-01	16	270	0	110	2		0	0	0	0	0	2	1	9.996999e-01	14	486	0	107	2								-2.846095	1	1	121412	7	43	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.320000	0.180000	0.510000	0.310000	0.335942	0.320000	0	2.400000e-01	4.200000e-01
SYNE2	23224	broad.mit.edu	37	14	64692087	64692087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64692087G>A	ENST00000344113.4	+	115	20713	c.20501G>A	c.(20500-20502)cGg>cAg	p.R6834Q	SYNE2_ENST00000357395.3_Missense_Mutation_p.R3219Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q|SYNE2_ENST00000554584.1_Silent_p.P6754P|SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					AGGGTGGTCCGGGCAGCCCTA	0.647000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029618	0.93518	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.99	5.99	0.97316	Klarsicht/ANC-1/syne-1 homology (2);	0.124076	0.32175	N	0.006463	T	0.61788	0.2375	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.72338	0.953;0.974;0.977;0.945;0.976;0.976;0.966	T	0.67292	-0.5707	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	491;3219;378;505;1236;6834;6856	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	Q	6856;3219;6834;3490;3219;712;617;505;378	ENSP00000350719:R6856Q;ENSP00000349969:R3219Q;ENSP00000341781:R6834Q;ENSP00000450831:R3490Q;ENSP00000378249:R3219Q;ENSP00000451009:R712Q;ENSP00000450605:R617Q;ENSP00000391937:R505Q;ENSP00000396794:R378Q	ENSP00000341781:R6834Q	R	+	2	0	SYNE2	63761840	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	1	51	184	0	44	1	1	48	240	0	44	2		0	0	0	0	0	2	1	1	50	182	0	43	2								-3.365521	1	1	121410	3	28	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESR2	2100	broad.mit.edu	37	14	64727439	64727439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64727439C>T	ENST00000341099.4	-	5	1097	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000557772.1_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000555278.1_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	p.R227L(2)		23				Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACAAGGCGGTACCCACA	0.587000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000341099.4	1	1	hg19	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344503	0.61073	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.94;-2.89;-2.88;-2.88;-2.88;-2.96;-2.94;-2.96;-2.94;-2.79;-2.53	5.53	3.72	0.42706	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.414867	0.28748	N	0.014261	D	0.96513	0.8862	M	0.92923	3.36	0.58432	D	0.999997	P;D;D;D;B	0.89917	0.835;1.0;0.998;1.0;0.066	B;D;D;D;B	0.77557	0.401;0.985;0.921;0.99;0.017	D	0.96129	0.9091	10	0.54805	T	0.06	.	12.2801	0.54759	0.0:0.8637:0.0:0.1363	.	227;227;227;227;227	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	H	227	ENSP00000452485:R227H;ENSP00000441792:R227H;ENSP00000450699:R227H;ENSP00000335551:R227H;ENSP00000351412:R227H;ENSP00000450488:R227H;ENSP00000452426:R227H;ENSP00000350427:R227H;ENSP00000451582:R227H;ENSP00000343925:R227H;ENSP00000267525:R227H	ENSP00000267525:R227H	R	-	2	0	ESR2	63797192	0.982000	0.34865	0.709000	0.30452	0.245000	0.25701	2.455000	0.44988	0.818000	0.34468	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1	1	0	1	59	232	0	68	0	4.248798e-02	0	2	0	68	2		0	0	0	0	0	2	1	1	59	229	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB1	22890	broad.mit.edu	37	14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64988779C>T	ENST00000554015.1	+	4	988	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L|ZBTB1_ENST00000358738.3_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1			13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)			GGTAATTTTCCTGAGCCACTA	0.413000																								0							SO:0001583	missense			ENST00000554015.1	1	1	hg19	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10099	2.91;3.47;2.91	6.17	6.17	0.99709	.	0.269330	0.32819	N	0.005619	T	0.10723	0.0262	N	0.24115	0.695	0.51767	D	0.999933	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.016	T	0.09796	-1.0658	10	0.66056	D	0.02	-15.2061	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	186;186	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	186	ENSP00000451000:P186L;ENSP00000351587:P186L;ENSP00000378201:P186L	ENSP00000351587:P186L	P	+	2	0	ZBTB1	64058532	0.771000	0.28555	0.986000	0.45419	0.995000	0.86356	1.362000	0.34148	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1	1	0	1	92	329	0	72	1	9.999998e-01	18	63	0	72	2		0	0	0	0	0	2	1	1	92	322	0	71	2								-3.757118	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA2	3306	broad.mit.edu	37	14	65007778	65007778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65007778G>A	ENST00000394709.1	+	2	287	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Missense_Mutation_p.A71T|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2			22					CATCTTCGACGCCAAGAGGCT	0.612000													Pancreas(136;1211 1835 24894 31984 38227)											0							SO:0001583	missense			ENST00000394709.1	1	1	hg19	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995842	0.74703	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01015	5.44;5.44	5.38	5.38	0.77491	.	0.000000	0.53938	U	0.000049	T	0.03739	0.0106	M	0.75085	2.285	0.58432	D	0.999999	P	0.43607	0.812	P	0.49192	0.602	T	0.33701	-0.9858	10	0.87932	D	0	0.4442	19.1451	0.93461	0.0:0.0:1.0:0.0	.	71	P54652	HSP72_HUMAN	T	71	ENSP00000378199:A71T;ENSP00000247207:A71T	ENSP00000247207:A71T	A	+	1	0	HSPA2	64077531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.828000	0.99408	2.517000	0.84864	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1	1	0	1	50	218	0	42	1	9.883020e-01	7	26	0	42	2		0	0	0	0	0	2	1	1	49	214	0	41	2								-20.000000	1	1	121412	1	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA2	3306	broad.mit.edu	37	14	65008035	65008035	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65008035C>T	ENST00000394709.1	+	2	544	c.468C>T	c.(466-468)cgC>cgT	p.R156R	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Silent_p.R156R|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2			22					ACTCGCAGCGCCAGGCCACCA	0.637000													Pancreas(136;1211 1835 24894 31984 38227)											0							SO:0001819	synonymous_variant			ENST00000394709.1	1	1	hg19	CCDS9766.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1	1	0	1	63	295	0	56	1	9.927686e-01	6	32	0	56	2		0	0	0	0	0	2	1	1	63	293	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHG3	26030	broad.mit.edu	37	14	65208098	65208098	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65208098G>T	ENST00000394691.1	+	16	2010	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.Q126H|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.Q154H|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.Q565H			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3			29					GCGTGGCACAGGAGGACAGCA	0.667000																								0							SO:0001583	missense			ENST00000394691.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.951	0.744777	0.15710	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.67	2.84	0.33178	.	0.512935	0.17080	N	0.187808	T	0.73426	0.3585	N	0.14661	0.345	0.21933	N	0.999463	P;P;B;B	0.40515	0.719;0.502;0.31;0.436	B;B;B;B	0.39152	0.243;0.243;0.153;0.292	T	0.64076	-0.6492	10	0.44086	T	0.13	.	4.7219	0.12922	0.302:0.0:0.5582:0.1398	.	154;126;621;565	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	H	565;621;154;126	ENSP00000247226:Q565H;ENSP00000378183:Q621H;ENSP00000450945:Q154H;ENSP00000450973:Q126H	ENSP00000247226:Q565H	Q	+	3	2	PLEKHG3	64277851	0.036000	0.19791	0.530000	0.27963	0.150000	0.21749	0.287000	0.18920	0.338000	0.23692	-0.140000	0.14226	CAG		TCGA-IB-7651-01A-11D-2154-08	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	0	0	0	7	280	0	53	0	2.142333e-01	1	30	0	53	2		0	0	0	0	0	2	1	9.799708e-01	7	276	0	51	2								-7.984004	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.290000	0.130000	0.550000	0.290000	0.318643	0.290000	0	2.000000e-01	4.200000e-01
PLEKHG3	26030	broad.mit.edu	37	14	65209988	65209988	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65209988T>C	ENST00000394691.1	+	17	3374	c.3227T>C	c.(3226-3228)gTc>gCc	p.V1076A	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.V1020A			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3			29					ggcccACCCGTCAACAGGAGC	0.716000																								0							SO:0001583	missense			ENST00000394691.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.62	2.886197	0.51908	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.68765	0.11;-0.35;1.07;1.07	5.29	5.29	0.74685	.	0.000000	0.50627	D	0.000116	T	0.78426	0.4281	M	0.61703	1.905	0.29738	N	0.83737	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.79784	0.99;0.99;0.984;0.993	T	0.75314	-0.3361	10	0.38643	T	0.18	.	14.2044	0.65725	0.0:0.0:0.0:1.0	.	609;581;1076;1020	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	A	1020;1076;609;581	ENSP00000247226:V1020A;ENSP00000378183:V1076A;ENSP00000450945:V609A;ENSP00000450973:V581A	ENSP00000247226:V1020A	V	+	2	0	PLEKHG3	64279741	1.000000	0.71417	0.986000	0.45419	0.037000	0.13140	5.053000	0.64269	1.987000	0.57996	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	0	0	0	10	292	0	38	0	4.149960e-03	0	3	0	38	2		0	0	0	0	0	2	1	9.963926e-01	10	281	0	37	2								-15.279070	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.390000	0.200000	0.670000	0.390000	0.416874	0.390000	0	2.900000e-01	5.300000e-01
SPTB	6710	broad.mit.edu	37	14	65241151	65241151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65241151C>T	ENST00000389721.5	-	23	4969	c.4937G>A	c.(4936-4938)cGg>cAg	p.R1646Q	SPTB_ENST00000389722.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1646Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic			106		all_lung(585;4.15e-09)			GCCCTGGGCCCGGCTGGCCAG	0.662000																								0							SO:0001583	missense			ENST00000389721.5	0	1	hg19	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	6.939	0.543007	0.13250	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.39	5.39	0.77823	.	0.063876	0.64402	D	0.000005	T	0.21468	0.0517	N	0.11427	0.14	0.41463	D	0.988053	P;B;B	0.37636	0.603;0.356;0.306	B;B;B	0.20955	0.032;0.02;0.009	T	0.15636	-1.0430	10	0.16896	T	0.51	.	11.432	0.50047	0.0:0.916:0.0:0.084	.	430;1646;1650	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1650;1646;430;311;1646;1646;1646;1646	ENSP00000374372:R1646Q;ENSP00000451324:R311Q;ENSP00000451752:R1646Q;ENSP00000374371:R1646Q;ENSP00000443882:R1646Q;ENSP00000374370:R1646Q	ENSP00000334218:R430Q	R	-	2	0	SPTB	64310904	0.271000	0.24162	0.980000	0.43619	0.417000	0.31264	1.666000	0.37460	2.516000	0.84829	0.542000	0.68232	CGG		TCGA-IB-7651-01A-11D-2154-08	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	1	0	0	8	20	0	8	1	6.453985e-01	2	5	0	8	2		0	0	0	0	0	2	1	9.918433e-01	7	20	0	8	2								-18.460520	1	1	119018	2	23	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998381	0.990000	1	9.900000e-01	1
SPTB	6710	broad.mit.edu	37	14	65249188	65249188	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65249188G>A	ENST00000389721.5	-	19	4118	c.4086C>T	c.(4084-4086)gaC>gaT	p.D1362D	SPTB_ENST00000389722.3_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic			106		all_lung(585;4.15e-09)			CCTGCAGCTCGTCCCAGAGCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000389721.5	1	1	hg19	CCDS32100.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	1	0	0	158	756	0	150	1	4.158915e-01	3	5	0	150	2		0	0	0	0	0	2	1	1	152	742	0	150	2								-20.000000	1	1	121412	1	41	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTB	6710	broad.mit.edu	37	14	65253315	65253315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253315G>A	ENST00000389721.5	-	15	3400	c.3368C>T	c.(3367-3369)tCt>tTt	p.S1123F	SPTB_ENST00000389722.3_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic			106		all_lung(585;4.15e-09)			TTTCTCCCCAGACTCCTTAAC	0.597000																								0							SO:0001583	missense			ENST00000389721.5	1	1	hg19	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	5.196	0.221703	0.09863	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.89	4.89	0.63831	.	0.196582	0.44483	D	0.000454	T	0.30070	0.0753	N	0.16368	0.405	0.37834	D	0.928837	B;B	0.33171	0.4;0.081	B;B	0.38194	0.267;0.028	T	0.19192	-1.0313	10	0.13108	T	0.6	.	7.8989	0.29723	0.1794:0.0:0.8206:0.0	.	1123;1127	P11277;Q59FP5	SPTB1_HUMAN;.	F	1127;1123;1123;1123;1123;1123	ENSP00000374372:S1123F;ENSP00000451752:S1123F;ENSP00000374371:S1123F;ENSP00000443882:S1123F;ENSP00000374370:S1123F	ENSP00000374370:S1123F	S	-	2	0	SPTB	64323068	0.002000	0.14202	0.911000	0.35937	0.930000	0.56654	0.780000	0.26760	2.430000	0.82344	0.549000	0.68633	TCT		TCGA-IB-7651-01A-11D-2154-08	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	1	0	1	61	235	0	51	0	1.942672e-01	1	3	0	51	2		0	0	0	0	0	2	1	1	60	230	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTB	6710	broad.mit.edu	37	14	65253542	65253542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253542C>T	ENST00000389721.5	-	15	3173	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	SPTB_ENST00000389722.3_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q|SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic			106		all_lung(585;4.15e-09)			GCAGGGATTGCTGCAGGCCCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000389721.5	1	1	hg19	CCDS32100.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	0	0	0	14	454	0	63	0	3.161091e-03	0	3	0	63	2		0	0	0	0	0	2	1	9.997223e-01	14	444	0	62	2								-12.946540	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.350000	0.200000	0.560000	0.350000	0.369882	0.350000	0	2.700000e-01	4.600000e-01
SPTB	6710	broad.mit.edu	37	14	65260266	65260266	+	Silent	SNP	C	C	T	rs142550439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65260266C>T	ENST00000389721.5	-	13	2147	c.2115G>A	c.(2113-2115)gcG>gcA	p.A705A	SPTB_ENST00000389722.3_Silent_p.A705A|SPTB_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic			106		all_lung(585;4.15e-09)			ACTGCTTGCGCGCAACCATGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000389721.5	1	1	hg19	CCDS32100.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	1	0	1	49	191	0	54	1	2.770353e-01	3	2	0	54	2		0	0	0	0	0	2	1	1	49	188	0	53	2								-3.451853	1	1	121412	27	46	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTB	6710	broad.mit.edu	37	14	65263370	65263370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65263370G>A	ENST00000389721.5	-	10	1278	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	SPTB_ENST00000389722.3_Missense_Mutation_p.R416W|SPTB_ENST00000389720.3_Missense_Mutation_p.R416W|SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_Missense_Mutation_p.R416W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic			106		all_lung(585;4.15e-09)			TTCTCCTGCCGAATGAGCTCA	0.582000																								0							SO:0001583	missense			ENST00000389721.5	0	1	hg19	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334333	0.81801	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89684	0.6786	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91821	0.5467	10	0.87932	D	0	.	14.3709	0.66838	0.0:0.0:0.8514:0.1485	.	416;420	P11277;Q59FP5	SPTB1_HUMAN;.	W	420;416;416;416;416;416	ENSP00000374372:R416W;ENSP00000451752:R416W;ENSP00000374371:R416W;ENSP00000443882:R416W;ENSP00000374370:R416W	ENSP00000374370:R416W	R	-	1	2	SPTB	64333123	1.000000	0.71417	0.990000	0.47175	0.846000	0.48090	3.197000	0.51028	2.756000	0.94617	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	0	0	0	8	309	0	63	0	8.816614e-04	0	2	0	63	2		0	0	0	0	0	2	0	4.553317e-02	7	305	1	63	17								-3.558323	1	1	121412	3	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.300000	0.140000	0.540000	0.290000	0.325303	0.300000	0	2.100000e-01	4.300000e-01
GPX2	2877	broad.mit.edu	37	14	65409265	65409265	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65409265G>A	ENST00000389614.5	-	1	266	c.180C>T	c.(178-180)cgC>cgT	p.R60R	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)			4				Glutathione(DB00143)	GGACCACCAGGCGCCTGGGAA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000389614.5	1	1	hg19	CCDS41964.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1	0	0	1	68	426	0	114	1	1	2831	3087	0	114	2		0	0	0	0	0	2	1	1	67	422	0	114	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TMEM229B	161145	broad.mit.edu	37	14	67940506	67940506	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67940506C>T	ENST00000557006.1	-	4	417	c.135G>A	c.(133-135)acG>acA	p.T45T	TMEM229B_ENST00000357461.2_Silent_p.T45T			Q8NBD8	T229B_HUMAN	transmembrane protein 229B			5					CCCACACGCTCGTGACCCCAG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000557006.1	1	1	hg19	CCDS9783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	1	0	1	19	117	0	22	0	7.653609e-01	0	19	0	22	2		0	0	0	0	0	2	1	9.999938e-01	19	116	0	22	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998184	0.990000	1	9.900000e-01	1
ARG2	384	broad.mit.edu	37	14	68113681	68113681	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68113681G>T	ENST00000261783.3	+	6	841	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	p.D221Y(1)		11				L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCCATGAGAGATATTGATCG	0.353000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000261783.3	1	1	hg19	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335165	0.81801	.	.	ENSG00000081181	ENST00000261783	D	0.86432	-2.12	6.17	6.17	0.99709	Ureohydrolase domain (1);	0.127366	0.64402	D	0.000001	D	0.92734	0.7690	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92752	0.6217	10	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	221	P78540	ARGI2_HUMAN	Y	221	ENSP00000261783:D221Y	ENSP00000261783:D221Y	D	+	1	0	ARG2	67183434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.527000	0.73803	2.941000	0.99782	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	1	0	1	56	292	0	70	1	9.916538e-01	13	28	0	70	2		0	0	0	0	0	2	1	1	55	287	0	70	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RDH11	51109	broad.mit.edu	37	14	68157882	68157882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68157882C>A	ENST00000381346.4	-	4	539	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D|RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)			12				Vitamin A(DB00162)	CTATGTGCATCTCAAAGCCAT	0.468000																								0							SO:0001583	missense			ENST00000381346.4	1	1	hg19	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244340	0.79912	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557726	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	6.07	2.0	0.26442	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	L	0.60455	1.87	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88357	0.2985	10	0.72032	D	0.01	.	9.6028	0.39615	0.0:0.6434:0.0:0.3566	.	143;130;143	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	D	143;130;143;42;91	ENSP00000370750:E143D;ENSP00000452079:E130D;ENSP00000416395:E143D;ENSP00000450802:E42D;ENSP00000450435:E91D	ENSP00000370750:E143D	E	-	3	2	RDH11	67227635	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.728000	0.47319	0.081000	0.16988	-0.482000	0.04802	GAG		TCGA-IB-7651-01A-11D-2154-08	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3	0	0	0	36	1179	0	243	1	9.992475e-01	31	317	0	243	2		0	0	0	0	0	2	1	1	36	1154	0	241	2								-2.852116	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.340000	0.240000	0.470000	0.350000	0.354691	0.340000	0	2.900000e-01	4.100000e-01
RDH11	51109	broad.mit.edu	37	14	68159251	68159251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68159251T>G	ENST00000381346.4	-	3	363	c.253A>C	c.(253-255)Atc>Ctc	p.I85L	RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L|RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)			12				Vitamin A(DB00162)	GTGGTCTGGATCTCTTTGGCC	0.483000																								0							SO:0001583	missense			ENST00000381346.4	1	1	hg19	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923609	0.73213	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130	D;D;D	0.84223	-1.82;-1.82;-1.82	5.41	5.41	0.78517	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	N	0.21617	0.685	0.58432	D	0.999999	P;P;P	0.43477	0.756;0.808;0.551	P;P;P	0.50754	0.555;0.517;0.649	D	0.84727	0.0743	10	0.49607	T	0.09	.	15.4448	0.75220	0.0:0.0:0.0:1.0	.	85;72;85	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	L	85;72;85	ENSP00000370750:I85L;ENSP00000452079:I72L;ENSP00000416395:I85L	ENSP00000370750:I85L	I	-	1	0	RDH11	67229004	1.000000	0.71417	0.995000	0.50966	0.226000	0.24999	6.738000	0.74822	2.048000	0.60808	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3	1	0	1	158	814	0	224	1	1	120	328	0	224	2		0	0	0	0	0	2	1	1	155	793	0	224	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFYVE26	23503	broad.mit.edu	37	14	68229498	68229498	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229498G>T	ENST00000347230.4	-	33	6188	c.6050C>A	c.(6049-6051)gCt>gAt	p.A2017D	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26			94					ATAGGCAGCAGCAACTAAAAT	0.498000																								0							SO:0001583	missense			ENST00000347230.4	1	1	hg19	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252266	0.80135	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27890	1.78;1.64	5.62	2.78	0.32641	.	0.232813	0.43747	D	0.000530	T	0.41511	0.1162	L	0.46157	1.445	0.43426	D	0.995587	D;D	0.76494	0.999;0.997	D;P	0.71414	0.973;0.879	T	0.07809	-1.0753	10	0.31617	T	0.26	-0.1938	8.2721	0.31851	0.1347:0.0:0.7368:0.1285	.	2017;2017	G3V2D8;Q68DK2	.;ZFY26_HUMAN	D	2017;1996;2017	ENSP00000251119:A2017D;ENSP00000450603:A2017D	ENSP00000251119:A2017D	A	-	2	0	ZFYVE26	67299251	0.325000	0.24660	0.983000	0.44433	0.994000	0.84299	2.240000	0.43088	0.316000	0.23135	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	0	0	1	24	150	0	49	1	9.848806e-01	12	33	0	49	2		0	0	0	0	0	2	1	9.999997e-01	23	145	0	49	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999121	0.990000	1	9.900000e-01	1
ZFYVE26	23503	broad.mit.edu	37	14	68229501	68229501	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229501A>G	ENST00000347230.4	-	33	6185	c.6047T>C	c.(6046-6048)gTt>gCt	p.V2016A	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26			94					GGCAGCAGCAACTAAAATATT	0.488000																								0							SO:0001583	missense			ENST00000347230.4	1	1	hg19	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	33	5.209454	0.95069	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.38722	1.28;1.12	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.60125	-0.7324	10	0.52906	T	0.07	-14.7705	15.8326	0.78769	1.0:0.0:0.0:0.0	.	2016;2016	G3V2D8;Q68DK2	.;ZFY26_HUMAN	A	2016;1995;2016	ENSP00000251119:V2016A;ENSP00000450603:V2016A	ENSP00000251119:V2016A	V	-	2	0	ZFYVE26	67299254	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.339000	0.96797	2.146000	0.66826	0.460000	0.39030	GTT		TCGA-IB-7651-01A-11D-2154-08	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	1	0	1	25	141	0	47	1	9.894935e-01	12	32	0	47	2		0	0	0	0	0	2	1	9.999999e-01	23	136	0	47	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999738	0.990000	1	9.900000e-01	1
ZFYVE26	23503	broad.mit.edu	37	14	68271970	68271970	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68271970T>C	ENST00000347230.4	-	8	1373	c.1235A>G	c.(1234-1236)cAc>cGc	p.H412R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26			94					GACCTCCAGGTGAGCCCACAA	0.602000																								0							SO:0001583	missense			ENST00000347230.4	1	1	hg19	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927777	0.73327	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26810	1.85;1.71	5.9	5.9	0.94986	.	0.053647	0.85682	D	0.000000	T	0.43545	0.1252	L	0.51422	1.61	0.42057	D	0.991149	D;D;P	0.67145	0.996;0.992;0.842	P;P;B	0.62089	0.898;0.77;0.138	T	0.21895	-1.0232	10	0.46703	T	0.11	-19.8127	16.3196	0.82941	0.0:0.0:0.0:1.0	.	412;412;412	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	R	412;391;412	ENSP00000251119:H412R;ENSP00000450603:H412R	ENSP00000251119:H412R	H	-	2	0	ZFYVE26	67341723	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.209000	0.65208	2.248000	0.74166	0.459000	0.35465	CAC		TCGA-IB-7651-01A-11D-2154-08	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	1	0	0	14	130	0	30	0	6.993742e-01	1	23	0	30	2		0	0	0	0	0	2	1	9.997728e-01	13	128	0	30	2								-19.944480	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.660000	1.000000	1.000000	0.954785	0.990000	1	8.700000e-01	1
ACTN1	87	broad.mit.edu	37	14	69358972	69358972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69358972G>A	ENST00000193403.6	-	10	1267	c.884C>T	c.(883-885)cCg>cTg	p.P295L	ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L|ACTN1_ENST00000554508.1_5'Flank|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1			27					CTCCAGCCACGGGATTGTGCG	0.657000																								0							SO:0001583	missense			ENST00000193403.6	1	1	hg19	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224766	0.95173	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616	T;T;T;T;T;T	0.66995	0.75;0.75;0.75;0.75;0.75;-0.24	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.983;0.995;1.0;0.999	P;P;D;D	0.71656	0.761;0.841;0.974;0.955	T	0.82190	-0.0580	10	0.72032	D	0.01	.	17.6725	0.88222	0.0:0.0:1.0:0.0	.	295;295;295;295	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	L	295;295;295;230;295;230	ENSP00000193403:P295L;ENSP00000377941:P295L;ENSP00000414272:P295L;ENSP00000366035:P230L;ENSP00000439828:P295L;ENSP00000450903:P230L	ENSP00000193403:P295L	P	-	2	0	ACTN1	68428725	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	9.641000	0.98458	2.383000	0.81215	0.643000	0.83706	CCG		TCGA-IB-7651-01A-11D-2154-08	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	1	0	1	80	385	0	115	1	1	187	733	0	115	2		0	0	0	0	0	2	1	1	78	378	0	111	2								-2.629546	1	1	121412	2	32	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF5	8816	broad.mit.edu	37	14	69521423	69521423	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69521423A>C	ENST00000341516.5	-	9	2127	c.1980T>G	c.(1978-1980)atT>atG	p.I660M	DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M|DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5			29					AAGCTTTATAAATTTTTCGCT	0.498000																								0							SO:0001583	missense			ENST00000341516.5	1	1	hg19	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589626	0.46214	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.76060	-0.99;-0.83;-0.83;-0.43	5.52	3.18	0.36537	.	0.000000	0.64402	D	0.000004	T	0.75817	0.3901	L	0.32530	0.975	0.42590	D	0.993244	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.75099	-0.3437	10	0.62326	D	0.03	-9.6901	6.6175	0.22784	0.6408:0.0:0.3592:0.0	.	659;660	G3V4J7;Q96JK2	.;DCAF5_HUMAN	M	660;578;578;659	ENSP00000341351:I660M;ENSP00000451551:I578M;ENSP00000452052:I578M;ENSP00000451845:I659M	ENSP00000341351:I660M	I	-	3	3	DCAF5	68591176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.686000	0.37669	0.933000	0.37291	0.459000	0.35465	ATT		TCGA-IB-7651-01A-11D-2154-08	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	1	0	1	81	355	0	63	1	1	20	108	0	63	2		0	0	0	0	0	2	1	1	80	347	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXD2	55218	broad.mit.edu	37	14	69695578	69695578	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69695578G>A	ENST00000409018.3	+	3	507	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	EXD2_ENST00000409014.1_Missense_Mutation_p.A2T|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2			14					TCTACAAATGGCCTCCCCAAG	0.498000																								0							SO:0001583	missense			ENST00000409018.3	1	1	hg19	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649751	0.87958	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.77229	-0.12;-0.6;-0.6;-0.6;-0.6;-0.12;-1.08;-0.6	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.095984	0.64402	D	0.000001	D	0.88800	0.6535	M	0.79123	2.44	0.58432	D	0.999998	D;D	0.89917	1.0;0.988	D;D	0.77557	0.99;0.932	D	0.89341	0.3654	10	0.72032	D	0.01	-13.0244	19.686	0.95979	0.0:0.0:1.0:0.0	.	127;2	G5E947;Q9NVH0	.;EXD2_HUMAN	T	127;127;2;2;2;2;127;2;2	ENSP00000387331:A127T;ENSP00000386915:A2T;ENSP00000386762:A2T;ENSP00000386632:A2T;ENSP00000386839:A2T;ENSP00000313140:A127T;ENSP00000409089:A2T;ENSP00000392177:A2T	ENSP00000193422:A127T	A	+	1	0	EXD2	68765331	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.677000	0.61634	2.659000	0.90383	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1	1	0	1	18	188	0	37	1	9.392442e-01	7	45	0	37	2		0	0	0	0	0	2	1	9.999822e-01	17	184	0	36	2								-19.999970	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.630000	1.000000	1.000000	0.931291	0.990000	1	8.100000e-01	1
SLC39A9	55334	broad.mit.edu	37	14	69922559	69922559	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69922559G>T	ENST00000336643.5	+	6	1347	c.669G>T	c.(667-669)atG>atT	p.M223I	SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I|SLC39A9_ENST00000031146.4_Missense_Mutation_p.M157I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I|SLC39A9_ENST00000555245.1_3'UTR	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9			14					TTATGTCCATGGTGACATACT	0.413000																								0							SO:0001583	missense			ENST00000336643.5	1	1	hg19	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007382	0.19199	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.40756	1.02;1.02;1.02	5.19	5.19	0.71726	.	0.035383	0.85682	D	0.000000	T	0.13798	0.0334	N	0.00405	-1.535	0.80722	D	1	B;B;B	0.14438	0.001;0.01;0.003	B;B;B	0.10450	0.002;0.004;0.005	T	0.37776	-0.9691	10	0.02654	T	1	-17.3407	18.8944	0.92417	0.0:0.0:1.0:0.0	.	200;223;223	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	I	223;223;200	ENSP00000452385:M223I;ENSP00000336887:M223I;ENSP00000451833:M200I	ENSP00000031146:M223I	M	+	3	0	SLC39A9	68992312	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.674000	0.83992	2.696000	0.92011	0.467000	0.42956	ATG		TCGA-IB-7651-01A-11D-2154-08	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	1	0	1	96	403	0	95	1	1	52	95	0	95	2		0	0	0	0	0	2	1	1	94	398	0	95	2								-2.853555	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC10A1	6554	broad.mit.edu	37	14	70252828	70252828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252828G>A	ENST00000216540.4	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1			14				Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	ATGACATAGCGCATGTATTGT	0.403000																								0							SO:0001583	missense			ENST00000216540.4	1	1	hg19	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	3.033	-0.199272	0.06219	2.27E-4	0.0	ENSG00000100652	ENST00000216540	T	0.12672	2.66	5.01	3.15	0.36227	.	0.641375	0.16982	N	0.191666	T	0.19287	0.0463	M	0.80183	2.485	0.09310	N	1	B	0.21147	0.052	B	0.16722	0.016	T	0.13818	-1.0495	10	0.59425	D	0.04	-5.434	9.8085	0.40808	0.0762:0.3746:0.5491:0.0	.	185	Q14973	NTCP_HUMAN	C	185	ENSP00000216540:R185C	ENSP00000216540:R185C	R	-	1	0	SLC10A1	69322581	0.002000	0.14202	0.444000	0.26895	0.010000	0.07245	0.911000	0.28584	0.793000	0.33875	-0.305000	0.09177	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1	1	0	1	55	298	0	76	0	2.525716e-02	0	2	0	76	2		0	0	0	0	0	2	1	1	55	292	0	75	2								-20.000000	1	0	121412	1	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMOC1	64093	broad.mit.edu	37	14	70346414	70346414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70346414G>A	ENST00000381280.4	+	1	272	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1			21					CGCGCGCTGCGCCCGCCTGCT	0.736000																								0							SO:0001583	missense			ENST00000381280.4	0	1	hg19	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815761	0.32145	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57752	0.38;0.39	5.1	3.23	0.37069	.	0.925262	0.08828	U	0.887818	T	0.27063	0.0663	N	0.08118	0	0.21897	N	0.999486	B;B	0.29805	0.257;0.167	B;B	0.19666	0.026;0.012	T	0.13629	-1.0502	10	0.11182	T	0.66	-2.7874	7.5362	0.27712	0.0926:0.1659:0.7415:0.0	.	7;7	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	T	7	ENSP00000355110:A7T;ENSP00000370680:A7T	ENSP00000355110:A7T	A	+	1	0	SMOC1	69416167	0.973000	0.33851	1.000000	0.80357	0.343000	0.28985	0.343000	0.19944	1.141000	0.42275	0.306000	0.20318	GCC		TCGA-IB-7651-01A-11D-2154-08	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1	1	0	0	11	63	0	14	1	5.699205e-01	5	7	0	14	2		0	0	0	0	0	2	1	9.986672e-01	11	62	0	14	2								-19.769680	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.890000	1.000000	1.000000	0.993765	0.990000	1	9.900000e-01	1
SLC8A3	6547	broad.mit.edu	37	14	70633807	70633807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70633807C>T	ENST00000381269.2	-	2	2086	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3			54					AACTCATAGTCAGCCCCTGCA	0.512000																								0							SO:0001583	missense			ENST00000381269.2	1	1	hg19	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129873	0.77549	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.72	5.72	0.89469	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	D	0.86941	0.2079	10	0.54805	T	0.06	.	19.8887	0.96921	0.0:1.0:0.0:0.0	.	445;445;445;445	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	445	ENSP00000349392:D445N;ENSP00000370669:D445N;ENSP00000350560:D445N;ENSP00000436688:D445N;ENSP00000433531:D445N	ENSP00000349392:D445N	D	-	1	0	SLC8A3	69703560	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.811000	0.86092	2.686000	0.91538	0.643000	0.83706	GAC		TCGA-IB-7651-01A-11D-2154-08	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	1	0	1	188	747	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	1	183	731	0	161	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM21	8747	broad.mit.edu	37	14	70924986	70924986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70924986G>A	ENST00000603540.1	+	2	1028	c.770G>A	c.(769-771)gGa>gAa	p.G257E	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21			31					ATTTTGATTGGAATTGAAATT	0.363000																								0							SO:0001583	missense			ENST00000603540.1	1	1	hg19	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992807	0.18966	.	.	ENSG00000139985	ENST00000267499	T	0.11385	2.78	3.86	0.557	0.17260	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.44902	D	0.000420	T	0.34279	0.0892	M	0.91406	3.205	0.09310	N	0.999999	D	0.71674	0.998	D	0.79784	0.993	T	0.07501	-1.0769	10	0.87932	D	0	.	8.2495	0.31708	0.0:0.1501:0.5415:0.3084	.	257	Q9UKJ8	ADA21_HUMAN	E	257	ENSP00000267499:G257E	ENSP00000267499:G257E	G	+	2	0	ADAM21	69994739	0.419000	0.25449	0.985000	0.45067	0.259000	0.26198	0.817000	0.27281	0.365000	0.24400	-0.321000	0.08615	GGA		TCGA-IB-7651-01A-11D-2154-08	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3	1	0	0	18	409	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	9.999694e-01	17	384	0	86	2								-17.949490	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.490000	0.300000	0.740000	0.490000	0.512752	0.490000	0	3.900000e-01	6.200000e-01
ADAM21	8747	broad.mit.edu	37	14	70926319	70926319	+	Silent	SNP	C	C	T	rs142273524	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70926319C>T	ENST00000603540.1	+	2	2361	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V701V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21			31					TGTTTACTGTCGGGCTTCTTA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000603540.1	1	1	hg19	CCDS9804.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3	1	0	1	85	351	0	82	0	3.891160e-02	0	2	0	82	2		0	0	0	0	0	2	1	1	83	337	0	82	2								-3.375231	1	1	121412	18	44	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM20	8748	broad.mit.edu	37	14	70991330	70991330	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70991330T>G	ENST00000256389.3	-	2	539	c.295A>C	c.(295-297)Atc>Ctc	p.I99L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20			27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)		CCCCTGCTGATCACCTTCAAA	0.517000																								0							SO:0001583	missense			ENST00000256389.3	1	1	hg19	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	8.508	0.865782	0.17250	.	.	ENSG00000134007	ENST00000256389	T	0.05649	3.41	4.14	0.241	0.15494	Peptidase M12B, propeptide (1);	0.390677	0.17933	U	0.157114	T	0.04588	0.0125	L	0.28556	0.865	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.33752	-0.9856	10	0.66056	D	0.02	.	6.0527	0.19794	0.0:0.0836:0.3142:0.6021	.	49	O43506	ADA20_HUMAN	L	99	ENSP00000256389:I99L	ENSP00000256389:I99L	I	-	1	0	ADAM20	70061083	0.000000	0.05858	0.075000	0.20258	0.177000	0.22998	-0.244000	0.08903	-0.048000	0.13401	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2	1	0	1	84	289	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	82	284	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC9	23508	broad.mit.edu	37	14	71109141	71109141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71109141C>T	ENST00000256367.2	+	1	638	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	CTD-2540L5.5_ENST00000553982.1_lincRNA|CTD-2540L5.6_ENST00000500016.1_lincRNA	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9			1					GGAACGGGAGCGGGACTCGCG	0.657000																								0							SO:0001583	missense			ENST00000256367.2	0	1	hg19	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327117	0.41197	.	.	ENSG00000133985	ENST00000256367	T	0.18657	2.2	4.08	2.0	0.26442	Tetratricopeptide-like helical (1);	1.444650	0.04344	N	0.354604	T	0.26304	0.0642	L	0.34521	1.04	0.20403	N	0.999902	D	0.63880	0.993	P	0.50352	0.638	T	0.31613	-0.9937	10	0.66056	D	0.02	-7.537	9.1798	0.37134	0.2773:0.5867:0.136:0.0	.	99	Q92623	TTC9A_HUMAN	W	99	ENSP00000256367:R99W	ENSP00000256367:R99W	R	+	1	2	TTC9	70178894	0.963000	0.33076	0.984000	0.44739	0.193000	0.23685	0.935000	0.28924	1.029000	0.39812	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	1	0	0	12	54	0	12	1	5.814440e-01	8	2	0	12	2		0	0	0	0	0	2	1	9.992966e-01	11	53	0	12	2								-19.997650	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998403	0.990000	1	9.900000e-01	1
TTC9	23508	broad.mit.edu	37	14	71134289	71134289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71134289C>A	ENST00000256367.2	+	2	758	c.415C>A	c.(415-417)Ctc>Atc	p.L139I		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9			1					AGCCTGCCTGCTCCAGGCTGA	0.512000																								0							SO:0001583	missense			ENST00000256367.2	1	1	hg19	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937230	0.52972	.	.	ENSG00000133985	ENST00000256367	T	0.21932	1.98	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000021	T	0.44726	0.1307	L	0.58101	1.795	0.52501	D	0.99995	D	0.89917	1.0	D	0.83275	0.996	T	0.23297	-1.0192	10	0.48119	T	0.1	-20.3401	18.5279	0.90980	0.0:1.0:0.0:0.0	.	139	Q92623	TTC9A_HUMAN	I	139	ENSP00000256367:L139I	ENSP00000256367:L139I	L	+	1	0	TTC9	70204042	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	3.420000	0.52735	2.596000	0.87737	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	1	0	1	43	186	0	40	1	9.695618e-01	11	16	0	40	2		0	0	0	0	0	2	1	1	41	186	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K9	4293	broad.mit.edu	37	14	71209278	71209278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71209278G>A	ENST00000554752.2	-	6	1356	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9			46					AGTGCAGCCCGCGTCAGCTCC	0.627000													GBM(114;411 1587 13539 28235 50070)											0							SO:0001583	missense			ENST00000554752.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683396	0.68157	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	6.06	5.12	0.69794	Protein kinase-like domain (1);	0.115517	0.64402	D	0.000011	D	0.90417	0.7000	M	0.71871	2.18	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	D	0.90899	0.4767	10	0.87932	D	0	.	16.8654	0.86028	0.0:0.128:0.872:0.0	.	190;453;453;147	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	453;453;147;453;190;181	ENSP00000451612:R453W;ENSP00000451038:R147W;ENSP00000370649:R453W;ENSP00000451921:R190W	ENSP00000005198:R453W	R	-	1	2	MAP3K9	70279031	1.000000	0.71417	0.972000	0.41901	0.028000	0.11728	6.623000	0.74238	2.882000	0.98803	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	1	0	1	41	206	0	41	1	4.617494e-01	2	7	0	41	2		0	0	0	0	0	2	1	1	39	205	0	41	2								-20.000000	1	1	121408	2	28	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MAP3K9	4293	broad.mit.edu	37	14	71267541	71267541	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267541C>T	ENST00000554752.2	-	2	662	c.663G>A	c.(661-663)gaG>gaA	p.E221E	MAP3K9_ENST00000381250.4_Silent_p.E221E|MAP3K9_ENST00000555993.2_Silent_p.E221E	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9			46					CACGAGCAAACTCCATGACCA	0.522000													GBM(114;411 1587 13539 28235 50070)											0							SO:0001819	synonymous_variant			ENST00000554752.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	1	0	1	52	324	0	91	1	5.414923e-02	2	1	0	91	2		0	0	0	0	0	2	1	1	51	318	0	90	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
MAP3K9	4293	broad.mit.edu	37	14	71267726	71267726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267726G>A	ENST00000554752.2	-	2	477	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9			46					CAGAAAGCACGATAGACCTTC	0.488000													GBM(114;411 1587 13539 28235 50070)											0							SO:0001583	missense			ENST00000554752.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.3	4.395903	0.83011	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.90004	-2.6;-2.6	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95031	0.8169	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	160;160	P80192;P80192-4	M3K9_HUMAN;.	C	160	ENSP00000451612:R160C;ENSP00000370649:R160C	ENSP00000005198:R160C	R	-	1	0	MAP3K9	70337479	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.503000	0.73699	2.941000	0.99782	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	1	0	1	94	384	0	96	1	2.588969e-01	2	3	0	96	2		0	0	0	0	0	2	1	1	94	379	0	95	2								-3.398731	1	1	121412	1	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCNX	22990	broad.mit.edu	37	14	71540352	71540352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71540352C>T	ENST00000304743.2	+	27	5389	c.4943C>T	c.(4942-4944)cCt>cTt	p.P1648L	PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L|PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)			87			KIRC - Kidney renal clear cell carcinoma(12;0.206)		GGCCATATTCCTCACATGCTT	0.443000																								0							SO:0001583	missense			ENST00000304743.2	1	1	hg19	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.520918|4.520918	0.85495|0.85495	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.12879	.|3.0;3.03;2.64	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.097108	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	M|M	0.79011|0.79011	2.435|2.435	0.52501|0.52501	D|D	0.999954|0.999954	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	T|T	0.31223|0.31223	-0.9951|-0.9951	5|10	.|0.72032	.|D	.|0.01	.|.	18.7985|18.7985	0.92007|0.92007	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1576;1537;1648	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	F|L	635|1648;1576;1537	.|ENSP00000304192:P1648L;ENSP00000238570:P1576L;ENSP00000396617:P1537L	.|ENSP00000238570:P1576L	L|P	+|+	1|2	0|0	PCNX|PCNX	70610105|70610105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.278000|7.278000	0.78587|0.78587	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	CTC|CCT		TCGA-IB-7651-01A-11D-2154-08	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	0	1	122	549	1	152	1	9.995888e-01	10	65	1	152	4		0	0	0	0	0	2	1	1	121	540	1	152	16								-3.075690	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCNX	22990	broad.mit.edu	37	14	71543085	71543085	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71543085C>A	ENST00000304743.2	+	28	5732	c.5286C>A	c.(5284-5286)ttC>ttA	p.F1762L	PCNX_ENST00000439984.3_Missense_Mutation_p.F1651L|PCNX_ENST00000238570.5_Missense_Mutation_p.F1690L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)			87			KIRC - Kidney renal clear cell carcinoma(12;0.206)		GGGAGAGTTTCTGTGTGATTT	0.418000																								0							SO:0001583	missense			ENST00000304743.2	0	1	hg19	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765764|4.765764	0.90020|0.90020	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.23950|.	2.13;2.34;1.88|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70168|0.70168	0.3193|0.3193	M|M	0.86268|0.86268	2.805|2.805	0.31272|0.31272	N|N	0.691596|0.691596	D;D;D|.	0.58268|.	0.974;0.972;0.982|.	D;P;D|.	0.70487|.	0.969;0.689;0.952|.	T|T	0.74368|0.74368	-0.3688|-0.3688	10|5	0.51188|.	T|.	0.08|.	.|.	13.3761|13.3761	0.60739|0.60739	0.0:0.9247:0.0:0.0753|0.0:0.9247:0.0:0.0753	.|.	1690;1651;1762|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|Y	1762;1690;1651|749	ENSP00000304192:F1762L;ENSP00000238570:F1690L;ENSP00000396617:F1651L|.	ENSP00000238570:F1690L|.	F|S	+|+	3|2	2|0	PCNX|PCNX	70612838|70612838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.355000|2.355000	0.44107|0.44107	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	TTC|TCT		TCGA-IB-7651-01A-11D-2154-08	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	0	0	10	364	0	55	0	4.131688e-01	0	49	0	55	2		0	0	0	0	0	2	1	9.965775e-01	10	355	0	54	2								-3.209583	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.320000	0.160000	0.540000	0.310000	0.338140	0.320000	0	2.300000e-01	4.300000e-01
PCNX	22990	broad.mit.edu	37	14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)			87			KIRC - Kidney renal clear cell carcinoma(12;0.206)		GGCTTTCTTGCGACAGAGGGA	0.567000																								0							SO:0001583	missense			ENST00000304743.2	1	1	hg19	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.31|17.31	3.357994|3.357994	0.61403|0.61403	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.11063|.	3.25;3.23;2.81|.	5.86|5.86	4.97|4.97	0.65823|0.65823	.|.	0.048553|.	0.85682|.	D|.	0.000000|.	T|.	0.34193|.	0.0889|.	N|N	0.08118|0.08118	0|0	0.31462|0.31462	N|N	0.669408|0.669408	B;B;B|.	0.15930|.	0.01;0.015;0.015|.	B;B;B|.	0.16722|.	0.016;0.008;0.004|.	T|.	0.35025|.	-0.9805|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.8731|16.8731	0.86044|0.86044	0.0:0.1334:0.8666:0.0|0.0:0.1334:0.8666:0.0	.|.	2141;2102;2213|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|X	2213;2141;2102|1200	ENSP00000304192:A2213V;ENSP00000238570:A2141V;ENSP00000396617:A2102V|.	ENSP00000238570:A2141V|.	A|R	+|+	2|1	0|2	PCNX|PCNX	70645410|70645410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.102000|0.102000	0.19082|0.19082	5.659000|5.659000	0.68010|0.68010	1.481000|1.481000	0.48307|0.48307	-0.357000|-0.357000	0.07601|0.07601	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	1	0	0	38	401	0	80	1	9.985441e-01	8	98	0	80	2		0	0	0	0	0	2	1	1	38	393	0	77	2								-11.126310	1	1	121412	2	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.730000	1.000000	1.000000	0.949559	0.990000	1	8.600000e-01	1
SIPA1L1	26037	broad.mit.edu	37	14	72085567	72085567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72085567C>T	ENST00000555818.1	+	3	1940	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1			78					GAAAATGGATCTCCGTACAAC	0.403000																								0							SO:0001583	missense			ENST00000555818.1	1	1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619053	0.28801	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	T;T;T;D;D	0.94184	-1.18;-1.17;-1.17;-1.96;-3.37	5.32	5.32	0.75619	.	0.109437	0.64402	D	0.000005	D	0.94231	0.8148	L	0.53249	1.67	0.36692	D	0.87964	B;B;B;P;B	0.39094	0.391;0.0;0.236;0.659;0.138	P;B;B;B;B	0.48368	0.575;0.004;0.206;0.419;0.037	D	0.95998	0.8991	10	0.59425	D	0.04	-6.6639	19.0004	0.92830	0.0:1.0:0.0:0.0	.	6;531;6;531;531	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	F	531;531;531;6;32	ENSP00000370630:S531F;ENSP00000450832:S531F;ENSP00000351352:S531F;ENSP00000440682:S6F;ENSP00000452450:S32F	ENSP00000351352:S531F	S	+	2	0	SIPA1L1	71155320	1.000000	0.71417	0.726000	0.30738	0.035000	0.12851	4.646000	0.61411	2.497000	0.84241	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1	57	287	0	57	1	9.999669e-01	4	75	0	57	2		0	0	0	0	0	2	1	1	57	280	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L1	26037	broad.mit.edu	37	14	72090900	72090900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72090900G>A	ENST00000555818.1	+	4	2113	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1			78					CCTGCGGTTGGCCTTCAACAC	0.537000																								0							SO:0001583	missense			ENST00000555818.1	1	1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453277	0.96223	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	5.29	5.29	0.74685	.	0.043925	0.85682	D	0.000000	D	0.97204	0.9086	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.958;1.0;1.0;0.455	D;P;D;D;B	0.97110	0.999;0.767;1.0;0.997;0.091	D	0.97588	1.0115	10	0.87932	D	0	-25.7563	19.12	0.93358	0.0:0.0:1.0:0.0	.	64;589;64;589;589	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	T	589;589;589;64;90	ENSP00000370630:A589T;ENSP00000450832:A589T;ENSP00000351352:A589T;ENSP00000440682:A64T;ENSP00000452450:A90T	ENSP00000351352:A589T	A	+	1	0	SIPA1L1	71160653	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1	76	370	0	112	0	9.981278e-01	1	46	0	112	2		0	0	0	0	0	2	1	1	75	366	0	111	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L1	26037	broad.mit.edu	37	14	72152161	72152161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72152161C>T	ENST00000555818.1	+	10	3535	c.3187C>T	c.(3187-3189)Cga>Tga	p.R1063*	SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1			78					GTTTCCCTTCCGAAATAATAA	0.512000																								0							SO:0001587	stop_gained			ENST00000555818.1	0	1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	41	8.980838	0.99025	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.48	5.48	0.80851	.	0.057524	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3747	12.7979	0.57569	0.2704:0.7296:0.0:0.0	.	.	.	.	X	1063;1063;1063;538	.	ENSP00000351352:R1063X	R	+	1	2	SIPA1L1	71221914	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.388000	0.34442	2.726000	0.93360	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	0	107	463	0	129	0	9.998903e-01	0	59	0	129	2		0	0	0	0	0	2	1	1	105	452	0	128	2								-2.610589	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L1	26037	broad.mit.edu	37	14	72165840	72165840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72165840G>A	ENST00000555818.1	+	11	3865	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1			78					GTCCATGCCCGAAGGGTAGTT	0.483000																								0							SO:0001583	missense			ENST00000555818.1	1	1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835268	0.32421	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.58	4.7	0.59300	.	0.047490	0.85682	D	0.000000	T	0.40862	0.1134	L	0.42245	1.32	0.58432	D	0.999997	B;P;B;P;B	0.38370	0.276;0.628;0.343;0.525;0.011	B;B;B;B;B	0.23018	0.043;0.039;0.042;0.043;0.002	T	0.45556	-0.9253	10	0.72032	D	0.01	-19.5596	14.4261	0.67218	0.0706:0.0:0.9294:0.0	.	648;1173;648;1173;1173	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1173;1173;1173;648	ENSP00000370630:E1173K;ENSP00000450832:E1173K;ENSP00000351352:E1173K;ENSP00000440682:E648K	ENSP00000351352:E1173K	E	+	1	0	SIPA1L1	71235593	1.000000	0.71417	0.964000	0.40570	0.075000	0.17131	6.778000	0.75043	1.379000	0.46325	-0.251000	0.11542	GAA		TCGA-IB-7651-01A-11D-2154-08	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1	60	266	0	61	0	9.960623e-01	1	39	0	61	2		0	0	0	0	0	2	1	1	59	262	0	60	2								-3.143560	1	1	121412	2	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L1	26037	broad.mit.edu	37	14	72204965	72204965	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72204965G>T	ENST00000555818.1	+	21	5542	c.5194G>T	c.(5194-5196)Gac>Tac	p.D1732Y	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1			78					CAGCAGTAAAGACTCCTCTCC	0.423000																								0							SO:0001583	missense			ENST00000555818.1	1	1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211485	0.58343	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.92	5.03	0.67393	.	0.134229	0.64402	D	0.000003	T	0.41213	0.1149	L	0.36672	1.1	0.51767	D	0.999936	B;P;B;B;D	0.54397	0.374;0.896;0.389;0.374;0.966	B;P;B;B;P	0.57204	0.203;0.701;0.369;0.203;0.815	T	0.33979	-0.9847	10	0.72032	D	0.01	-18.8942	15.3804	0.74651	0.0668:0.0:0.9332:0.0	.	1185;1731;1185;1711;1732	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Y	1711;1732;1710;1185	ENSP00000370630:D1711Y;ENSP00000450832:D1732Y;ENSP00000351352:D1710Y;ENSP00000440682:D1185Y	ENSP00000351352:D1732Y	D	+	1	0	SIPA1L1	71274718	1.000000	0.71417	0.994000	0.49952	0.885000	0.51271	7.087000	0.76893	1.521000	0.48983	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	1	0	1	37	211	0	58	1	9.999984e-01	2	119	0	58	2		0	0	0	0	0	2	1	1	37	203	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
DPF3	8110	broad.mit.edu	37	14	73159903	73159903	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73159903T>G	ENST00000556509.1	-	7	622	c.623A>C	c.(622-624)aAg>aCg	p.K208T	DPF3_ENST00000541685.1_Missense_Mutation_p.K208T|DPF3_ENST00000546183.1_Missense_Mutation_p.K218T|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3			22					CGGTCGGTTCTTGTAGCGCTT	0.547000																								0							SO:0001583	missense			ENST00000556509.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	22.7	4.326574	0.81690	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.92858	-3.12;-0.53;-0.61	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95893	0.8663	M	0.82323	2.585	0.80722	D	1	P;P;D	0.57899	0.569;0.532;0.981	P;B;D	0.65140	0.455;0.19;0.932	D	0.96480	0.9355	9	0.87932	D	0	.	15.5857	0.76479	0.0:0.0:0.0:1.0	.	218;208;208	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	208;207;208;218	ENSP00000450518:K208T;ENSP00000441640:K208T;ENSP00000444662:K218T	ENSP00000381791:K263T	K	-	2	0	DPF3	72229656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.658000	0.83755	2.081000	0.62600	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2	0	0	0	49	285	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	48	273	0	66	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
DCAF4	26094	broad.mit.edu	37	14	73412676	73412676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73412676C>A	ENST00000358377.2	+	7	839	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	DCAF4_ENST00000553457.1_Missense_Mutation_p.L107M|DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4			22					CCTGCAAAGTCTGAAGACCCC	0.517000																								0							SO:0001583	missense			ENST00000358377.2	1	1	hg19	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011983	0.35511	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.73575	0.28;-0.44;-0.76;0.31;-0.13;4.76	6.04	4.98	0.66077	.	0.233339	0.44483	D	0.000451	D	0.83308	0.5226	M	0.63843	1.955	0.24821	N	0.992582	D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.78314	0.909;0.984;0.991;0.991;0.956;0.976	T	0.74884	-0.3512	10	0.41790	T	0.15	.	15.0067	0.71519	0.0:0.8821:0.0:0.1179	.	146;185;207;207;146;207	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	M	207;146;107;146;207;107	ENSP00000351147:L207M;ENSP00000345176:L146M;ENSP00000377781:L107M;ENSP00000426178:L146M;ENSP00000452131:L207M;ENSP00000451186:L107M	ENSP00000345176:L146M	L	+	1	2	DCAF4	72482429	0.340000	0.24792	0.621000	0.29145	0.112000	0.19704	0.772000	0.26647	2.873000	0.98535	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	1	0	1	195	845	0	224	1	9.834583e-01	5	25	0	224	2		0	0	0	0	0	2	1	1	192	830	0	224	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM25	58517	broad.mit.edu	37	14	73570180	73570180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73570180G>A	ENST00000261973.7	+	10	1433	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25			31					GATCGCAGTCGATCAAGGTAA	0.463000																								0							SO:0001583	missense			ENST00000261973.7	1	1	hg19	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123003	0.56613	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.58940	0.3;0.3	5.75	5.75	0.90469	.	0.055040	0.64402	D	0.000002	T	0.60818	0.2298	N	0.19112	0.55	0.80722	D	1	D	0.58620	0.983	P	0.61201	0.885	T	0.58335	-0.7654	10	0.32370	T	0.25	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	383	P49756	RBM25_HUMAN	Q	383	ENSP00000261973:R383Q;ENSP00000431150:R383Q	ENSP00000261973:R383Q	R	+	2	0	RBM25	72639933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	1	0	1	28	133	0	46	1	1	87	195	0	46	2		0	0	0	0	0	2	1	1	27	129	0	46	2								-3.429091	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
PSEN1	5663	broad.mit.edu	37	14	73673163	73673163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73673163C>T	ENST00000324501.5	+	9	1210	c.938C>T	c.(937-939)tCc>tTc	p.S313F	PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1			18					TCCAAAAATTCCAAGTATAAT	0.368000																								0							SO:0001583	missense			ENST00000324501.5	1	1	hg19	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298744	0.23650	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99667	-6.34;-6.34;-6.1;-6.1;-6.34;-6.1;-6.34	5.53	5.53	0.82687	.	0.350494	0.34088	N	0.004280	D	0.99190	0.9719	L	0.60455	1.87	0.27257	N	0.958745	B;P	0.35192	0.122;0.489	B;P	0.50136	0.285;0.632	D	0.97887	1.0295	10	0.24483	T	0.36	-3.8894	13.9605	0.64175	0.1519:0.848:0.0:0.0	.	309;313	P49768-2;P49768	.;PSN1_HUMAN	F	313;309;313;313;309;313;221	ENSP00000326366:S313F;ENSP00000350342:S309F;ENSP00000261970:S313F;ENSP00000339523:S313F;ENSP00000377719:S309F;ENSP00000451429:S313F;ENSP00000385948:S221F	ENSP00000261970:S313F	S	+	2	0	PSEN1	72742916	0.998000	0.40836	0.920000	0.36463	0.149000	0.21700	3.541000	0.53618	2.587000	0.87381	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2	1	0	1	56	213	0	43	1	1	101	244	0	43	2		0	0	0	0	0	2	1	1	55	209	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAPLN	89932	broad.mit.edu	37	14	73720627	73720627	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73720627C>T	ENST00000554301.1	+	11	1423	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	PAPLN_ENST00000340738.5_Silent_p.N393N|PAPLN_ENST00000555445.1_Silent_p.N420N|PAPLN_ENST00000427855.1_Silent_p.N420N|PAPLN_ENST00000381166.3_Silent_p.N420N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein			42					AGGCCTGTAACCTGCAGCGCT	0.697000																								0							SO:0001819	synonymous_variant			ENST00000554301.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	1	0	0	19	203	0	41	0	9.604739e-02	0	6	0	41	2		0	0	0	0	0	2	1	9.999916e-01	19	200	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.630000	1.000000	1.000000	0.925073	0.990000	1	8.000000e-01	1
PAPLN	89932	broad.mit.edu	37	14	73721304	73721304	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73721304G>A	ENST00000554301.1	+	12	1549	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PAPLN_ENST00000340738.5_Silent_p.A435A|PAPLN_ENST00000555445.1_Silent_p.A462A|PAPLN_ENST00000427855.1_Silent_p.A462A|PAPLN_ENST00000381166.3_Silent_p.A462A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein			42					ATACCGCAGCGTGCTCCTTGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000554301.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	1	0	1	127	614	0	132	0	9.088632e-01	1	21	0	132	2		0	0	0	0	0	2	1	1	125	607	0	129	2								-20.000000	1	0	121412	2	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAPLN	89932	broad.mit.edu	37	14	73729383	73729383	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73729383C>A	ENST00000554301.1	+	18	2734	c.2571C>A	c.(2569-2571)ctC>ctA	p.L857L	PAPLN_ENST00000340738.5_Silent_p.L830L|PAPLN_ENST00000555445.1_Silent_p.L841L|PAPLN_ENST00000427855.1_Silent_p.L857L|PAPLN_ENST00000381166.3_Silent_p.L857L|PAPLN_ENST00000554314.1_3'UTR			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein			42					CTGGTGGTCTCTGGCGGCAAG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000554301.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	1	0	1	9	60	0	13	0	8.148374e-01	0	23	0	13	2		0	0	0	0	0	2	1	9.945707e-01	9	58	0	13	2								-16.622050	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.750000	1.000000	1.000000	0.981787	0.990000	1	9.900000e-01	1
PAPLN	89932	broad.mit.edu	37	14	73730979	73730979	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73730979C>T	ENST00000554301.1	+	20	3085	c.2922C>T	c.(2920-2922)ggC>ggT	p.G974G	PAPLN_ENST00000340738.5_Silent_p.G947G|PAPLN_ENST00000555445.1_Silent_p.G958G|PAPLN_ENST00000427855.1_Silent_p.G974G|PAPLN_ENST00000381166.3_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein			42					AGGACGCGGGCACCTACAGCT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000554301.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	1	0	1	64	404	0	83	1	8.017729e-01	2	19	0	83	2		0	0	0	0	0	2	1	1	62	397	0	81	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PAPLN	89932	broad.mit.edu	37	14	73733247	73733247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73733247G>A	ENST00000554301.1	+	23	3465	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q|PAPLN_ENST00000555445.1_Missense_Mutation_p.R1085Q|PAPLN_ENST00000427855.1_Missense_Mutation_p.R1101Q|PAPLN_ENST00000381166.3_Intron			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein			42					GTCATTAGCCGAGTGGCTGTA	0.602000																								0							SO:0001583	missense			ENST00000554301.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.985	1.229254	0.22542	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.8	-9.05	0.00730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17662	0.0424	N	0.21617	0.685	0.39908	D	0.973995	B;B;B;B	0.28082	0.018;0.2;0.145;0.17	B;B;B;B	0.22386	0.023;0.039;0.024;0.01	T	0.05582	-1.0876	9	0.39692	T	0.17	.	17.017	0.86422	0.1111:0.0945:0.7944:0.0	.	1085;1101;300;1074	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	Q	1074;1101;1101;1085	ENSP00000345395:R1074Q;ENSP00000403403:R1101Q;ENSP00000451803:R1101Q;ENSP00000451729:R1085Q	ENSP00000345395:R1074Q	R	+	2	0	PAPLN	72803000	0.000000	0.05858	0.004000	0.12327	0.435000	0.31806	-0.129000	0.10515	-1.380000	0.02115	-1.069000	0.02264	CGA		TCGA-IB-7651-01A-11D-2154-08	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	0	0	0	6	192	0	53	0	1.350509e-01	0	18	0	53	2		0	0	0	0	0	2	1	9.610054e-01	6	184	0	52	2								-3.435678	1	1	121410	1	28	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.370000	0.150000	0.700000	0.340000	0.399622	0.370000	0	2.400000e-01	5.400000e-01
HEATR4	399671	broad.mit.edu	37	14	73967357	73967357	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73967357G>A	ENST00000553558.1	-	12	2504	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V|HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4			28					GAGAAGCTTGGCGGTCATAAG	0.552000																								0							SO:0001583	missense			ENST00000553558.1	1	1	hg19	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567887	0.45798	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.18657	2.2	5.35	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.382752	0.22466	N	0.059683	T	0.12603	0.0306	N	0.08118	0	0.30039	N	0.812774	B	0.21688	0.059	B	0.26094	0.066	T	0.09574	-1.0668	10	0.36615	T	0.2	-1.7862	13.3102	0.60376	0.078:0.0:0.922:0.0	.	728	Q86WZ0	HEAT4_HUMAN	V	728;681	ENSP00000450444:A728V	ENSP00000335447:A681V	A	-	2	0	HEATR4	73037110	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	2.773000	0.47686	1.384000	0.46424	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	1	0	1	73	302	0	86	0	0	0	1	0	86	2		0	0	0	0	0	2	1	1	69	298	0	85	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR4	399671	broad.mit.edu	37	14	73989008	73989008	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73989008C>A	ENST00000553558.1	-	3	1170	c.849G>T	c.(847-849)aaG>aaT	p.K283N	HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N|RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4			28					GTTCTGGCTTCTTCTTTTCCT	0.532000																								0							SO:0001583	missense			ENST00000553558.1	1	1	hg19	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557739	0.13436	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.44083	0.93	5.69	3.88	0.44766	.	0.173502	0.41097	D	0.000948	T	0.44871	0.1314	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.58660	0.843	T	0.26360	-1.0105	10	0.62326	D	0.03	-6.6596	8.6657	0.34118	0.0:0.8262:0.0:0.1738	.	283	Q86WZ0	HEAT4_HUMAN	N	283;236	ENSP00000450444:K283N	ENSP00000335447:K236N	K	-	3	2	HEATR4	73058761	0.010000	0.17322	0.061000	0.19648	0.160000	0.22226	-0.349000	0.07731	0.777000	0.33496	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	1	0	1	128	628	0	141	1	3.400594e-01	6	1	0	141	2		0	0	0	0	0	2	1	1	128	617	0	141	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENTPD5	957	broad.mit.edu	37	14	74433689	74433689	+	Missense_Mutation	SNP	G	G	A	rs149673221	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74433689G>A	ENST00000334696.6	-	16	1548	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5			10					GGCCCAGCCCGTCTCTATGTT	0.498000																								0							SO:0001583	missense			ENST00000334696.6	1	1	hg19	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090243	0.76756	0.0	3.49E-4	ENSG00000187097	ENST00000334696	T	0.10668	2.85	5.07	5.07	0.68467	.	0.108369	0.64402	N	0.000007	T	0.24586	0.0596	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	P	0.53490	0.727	T	0.00370	-1.1783	10	0.48119	T	0.1	-22.0174	16.8209	0.85745	0.0:0.0:1.0:0.0	.	410	O75356	ENTP5_HUMAN	M	410	ENSP00000335246:T410M	ENSP00000335246:T410M	T	-	2	0	ENTPD5	73503442	1.000000	0.71417	0.933000	0.37362	0.697000	0.40408	6.992000	0.76238	2.638000	0.89438	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	0	0	1	72	310	1	76	1	9.907104e-01	15	37	1	76	4		0	0	0	0	0	2	1	1	71	307	0	76	2								-20.000000	1	1	121412	30	47	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH6A1	4329	broad.mit.edu	37	14	74538953	74538953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74538953G>A	ENST00000553458.1	-	4	399	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|ALDH6A1_ENST00000555126.1_5'Flank	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1			21					ACCTGCTGGCGGCTTAATACT	0.468000																								0							SO:0001583	missense			ENST00000553458.1	1	1	hg19	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623528	0.87460	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.97066	-4.23;-4.23	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052739	0.85682	D	0.000000	D	0.99357	0.9774	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98111	1.0420	10	0.87932	D	0	.	19.1054	0.93293	0.0:0.0:1.0:0.0	.	101	Q02252	MMSA_HUMAN	C	101	ENSP00000450436:R101C;ENSP00000342564:R101C	ENSP00000342564:R101C	R	-	1	0	ALDH6A1	73608706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.753000	0.85153	2.744000	0.94065	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1	1	0	1	55	263	0	55	0	9.796092e-01	1	31	0	55	2		0	0	0	0	0	2	1	1	55	260	0	55	2								-3.132031	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ISCA2	122961	broad.mit.edu	37	14	74961670	74961670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74961670C>T	ENST00000556816.1	+	4	487	c.432C>T	c.(430-432)tgC>tgT	p.C144C	NPC2_ENST00000555619.1_5'Flank|NPC2_ENST00000434013.2_5'Flank|ISCA2_ENST00000298818.8_3'UTR|NPC2_ENST00000541064.1_5'Flank|NPC2_ENST00000557510.1_5'Flank|NPC2_ENST00000238633.2_5'Flank|ISCA2_ENST00000554924.1_3'UTR			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2			1					AGCAAGGCTGCTCCTGTGGGT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000556816.1	1	1	hg19	CCDS32122.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ISCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412354.1	1	0	1	68	403	0	107	1	1	56	144	0	107	2		0	0	0	0	0	2	1	1	67	398	0	106	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LTBP2	4053	broad.mit.edu	37	14	74971732	74971732	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74971732G>A	ENST00000261978.4	-	29	4709	c.4323C>T	c.(4321-4323)ggC>ggT	p.G1441G	LTBP2_ENST00000556690.1_Silent_p.G1397G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2			58					CCCAGCTAGCGCCCTGGGTGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000261978.4	1	1	hg19	CCDS9831.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	0	0	0	14	437	0	72	0	9.997345e-01	0	445	0	72	2		0	0	0	0	0	2	1	9.997387e-01	14	431	0	71	2								-3.560277	1	1	121412	6	40	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.360000	0.210000	0.580000	0.360000	0.383607	0.360000	0	2.800000e-01	4.800000e-01
LTBP2	4053	broad.mit.edu	37	14	74975656	74975656	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74975656C>T	ENST00000261978.4	-	23	3790		c.e23-1		LTBP2_ENST00000556690.1_Splice_Site	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2			58					TCATCCACATCTGCAGGGCCA	0.617000																								0							SO:0001630	splice_region_variant			ENST00000261978.4	1	1	hg19	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912648	0.72983	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556206	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9123	0.92490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTBP2	74045409	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.276000	0.78559	2.771000	0.95319	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	1	0	1	98	336	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1	96	329	0	113	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YLPM1	56252	broad.mit.edu	37	14	75279362	75279362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75279362G>A	ENST00000552421.1	+	10	3385	c.3261G>A	c.(3259-3261)atG>atA	p.M1087I	YLPM1_ENST00000325680.7_Missense_Mutation_p.M1793I|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I			P49750	YLPM1_HUMAN	YLP motif containing 1			62			KIRC - Kidney renal clear cell carcinoma(43;0.238)		AGGAGCGAATGCCTCTGCCAG	0.463000																								0							SO:0001583	missense			ENST00000552421.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.39	1.924446	0.34002	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.27053	0.805	0.33071	D	0.535411	B;B	0.17667	0.013;0.023	B;B	0.08055	0.003;0.003	T	0.48658	-0.9016	9	0.39692	T	0.17	0.0452	13.518	0.61551	0.0:0.0:0.7179:0.2821	.	1598;1793	P49750-3;P49750-4	.;.	I	1087;1793;1598;1506;202	.	ENSP00000238571:M1598I	M	+	3	0	YLPM1	74349115	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	2.581000	0.46077	1.384000	0.46424	0.650000	0.86243	ATG		TCGA-IB-7651-01A-11D-2154-08	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	0	0	0	6	107	0	25	1	9.133811e-01	4	77	0	25	2		0	0	0	0	0	2	1	9.653573e-01	6	106	0	25	2								-9.830915	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.640000	0.270000	1.000000	1.000000	0.664665	0.640000	0	4.300000e-01	9.100000e-01
YLPM1	56252	broad.mit.edu	37	14	75284986	75284986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75284986G>A	ENST00000552421.1	+	15	4005	c.3881G>A	c.(3880-3882)cGt>cAt	p.R1294H	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2000H|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H			P49750	YLPM1_HUMAN	YLP motif containing 1			62			KIRC - Kidney renal clear cell carcinoma(43;0.238)		CTAGATATTCGTTCTTTGCTG	0.378000																								0							SO:0001583	missense			ENST00000552421.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	32	5.136174	0.94517	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.34275	1.37;1.37;1.37	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000010	T	0.53498	0.1800	L	0.39898	1.24	0.80722	D	1	P;D	0.76494	0.786;0.999	P;D	0.75020	0.517;0.985	T	0.53753	-0.8394	10	0.62326	D	0.03	-6.6839	19.2226	0.93803	0.0:0.0:1.0:0.0	.	1805;2000	P49750-3;P49750-4	.;.	H	1294;2000;1765;1713;409	ENSP00000447921:R1294H;ENSP00000324463:R2000H;ENSP00000448367:R409H	ENSP00000238571:R1765H	R	+	2	0	YLPM1	74354739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.548000	0.85928	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	1	0	1	10	43	0	15	1	9.999951e-01	34	99	0	15	2		0	0	0	0	0	2	1	9.978149e-01	10	43	0	15	2								-19.217440	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997324	0.990000	1	9.900000e-01	1
MLH3	27030	broad.mit.edu	37	14	75515131	75515131	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75515131C>A	ENST00000556740.1	-	1	1263	c.1228G>T	c.(1228-1230)Gct>Tct	p.A410S	MLH3_ENST00000238662.7_Missense_Mutation_p.A410S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.A410S|MLH3_ENST00000556257.1_Missense_Mutation_p.A410S|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3			44					CTTTTCACAGCTTTTGACTGC	0.348000								Mismatch excision repair (MMR)																0							SO:0001583	missense			ENST00000556740.1	1	1	hg19	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.983191	0.02180	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80738	-1.35;-1.36;-1.41;-1.35	5.74	3.6	0.41247	.	0.363846	0.28803	N	0.014088	T	0.70133	0.3189	L	0.55103	1.725	0.80722	D	1	P;B	0.36990	0.577;0.0	B;B	0.30855	0.121;0.001	T	0.63959	-0.6519	10	0.11485	T	0.65	-9.4372	11.1063	0.48205	0.3113:0.6206:0.0:0.0681	.	410;410	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	410	ENSP00000348020:A410S;ENSP00000238662:A410S;ENSP00000451540:A410S;ENSP00000452316:A410S	ENSP00000238662:A410S	A	-	1	0	MLH3	74584884	0.991000	0.36638	1.000000	0.80357	0.959000	0.62525	0.137000	0.15995	0.787000	0.33731	-0.824000	0.03097	GCT		TCGA-IB-7651-01A-11D-2154-08	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	0	0	0	9	282	0	53	1	7.427436e-02	3	10	0	53	2		0	0	0	0	0	2	1	9.938550e-01	9	276	0	53	2								-3.738427	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.370000	0.180000	0.640000	0.360000	0.392958	0.370000	0	2.600000e-01	5.100000e-01
NEK9	91754	broad.mit.edu	37	14	75567812	75567812	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75567812G>A	ENST00000238616.5	-	16	2043	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9			31					CCAACGCCCAGCTGCCCACAC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000238616.5	1	1	hg19	CCDS9839.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	1	0	0	53	189	0	53	1	1	36	119	0	53	2		0	0	0	0	0	2	1	1	52	187	0	52	2								-3.988021	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMED10	10972	broad.mit.edu	37	14	75618848	75618848	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75618848T>C	ENST00000303575.4	-	2	277		c.e2-2			NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)			9					ATCTGTGATCTAAAATAAGAA	0.373000																								0							SO:0001630	splice_region_variant			ENST00000303575.4	1	1	hg19	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937216	0.73557	.	.	ENSG00000170348	ENST00000303575	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5719	0.76345	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED10	74688601	1.000000	0.71417	0.997000	0.53966	0.752000	0.42762	7.655000	0.83696	2.142000	0.66516	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	1	0	0	31	213	0	42	0	1.737928e-02	0	2	0	42	2		0	0	0	0	0	2	1	1	31	209	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999057	0.990000	1	9.900000e-01	1
TMED10	10972	broad.mit.edu	37	14	75643079	75643079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75643079G>A	ENST00000303575.4	-	1	255	c.204C>T	c.(202-204)ggC>ggT	p.G68G		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)			9					TGCGCAGGCCGCCAGCGCCCC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000303575.4	1	1	hg19	CCDS9840.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	1	0	1	127	405	0	71	1	1	282	913	0	71	2		0	0	0	0	0	2	1	1	125	401	0	67	2								-4.957903	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BATF	10538	broad.mit.edu	37	14	76012831	76012831	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76012831C>T	ENST00000286639.6	+	3	453	c.195C>T	c.(193-195)aaC>aaT	p.N65N	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like			3					AGAAACAGAACGCGGCTCTAC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000286639.6	1	1	hg19	CCDS9843.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	1	0	1	20	230	0	38	1	9.961975e-01	23	82	0	38	2		0	0	0	0	0	2	1	9.999957e-01	19	228	0	38	2								-7.865271	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.930000	0.590000	1.000000	1.000000	0.896353	0.930000	1	7.500000e-01	1
FLVCR2	55640	broad.mit.edu	37	14	76108229	76108229	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76108229A>G	ENST00000238667.4	+	9	1853	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	FLVCR2_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000555027.1_Silent_p.E214E|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2			15					CAAACAAAGAAACTCTTGAGA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000238667.4	1	1	hg19	CCDS9844.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	1	0	1	86	380	0	96	1	9.988838e-01	11	36	0	96	2		0	0	0	0	0	2	1	1	85	372	0	96	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTLL5	23093	broad.mit.edu	37	14	76135778	76135778	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76135778T>C	ENST00000298832.9	+	3	299	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R|TTLL5_ENST00000557636.1_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5			50					ATGCATCATGTGGACTGGAGG	0.408000																								0							SO:0001583	missense			ENST00000298832.9	1	1	hg19	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792195	0.70452	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.10763	2.84;3.06;3.32	5.39	5.39	0.77823	.	0.118493	0.64402	D	0.000006	T	0.30166	0.0756	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.949;0.962	T	0.01386	-1.1368	10	0.54805	T	0.06	.	12.9317	0.58290	0.0:0.0:0.0:1.0	.	32;32;32	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	R	32	ENSP00000450713:W32R;ENSP00000286650:W32R;ENSP00000298832:W32R	ENSP00000286650:W32R	W	+	1	0	TTLL5	75205531	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.832000	0.62759	2.039000	0.60335	0.383000	0.25322	TGG		TCGA-IB-7651-01A-11D-2154-08	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	1	0	0	26	572	0	123	1	2.601333e-01	2	20	0	123	2		0	0	0	0	0	2	1	9.999999e-01	26	563	0	123	2								-4.664048	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.510000	0.340000	0.710000	0.510000	0.522755	0.510000	0	4.100000e-01	6.200000e-01
TTLL5	23093	broad.mit.edu	37	14	76231067	76231067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76231067C>T	ENST00000298832.9	+	19	1865	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.R568C|TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5			50					GGTGCGAAAACGTAGACGACG	0.507000																								0							SO:0001583	missense			ENST00000298832.9	1	1	hg19	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342561	0.82022	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.32753	3.57;3.67;1.57;1.44	5.29	5.29	0.74685	.	1.233700	0.05476	N	0.553897	T	0.46619	0.1402	L	0.43152	1.355	0.39164	D	0.962464	D;D;D	0.76494	0.998;0.999;0.996	P;P;P	0.56916	0.736;0.809;0.72	T	0.11348	-1.0591	10	0.72032	D	0.01	.	12.7236	0.57156	0.1642:0.8358:0.0:0.0	.	568;105;554	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	C	241;568;554;105;105;63	ENSP00000450713:R568C;ENSP00000298832:R554C;ENSP00000452524:R105C;ENSP00000451946:R63C	ENSP00000298832:R554C	R	+	1	0	TTLL5	75300820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.259000	0.43259	2.465000	0.83290	0.579000	0.79373	CGT		TCGA-IB-7651-01A-11D-2154-08	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	1	0	1	69	310	0	92	1	9.849818e-01	3	29	0	92	2		0	0	0	0	0	2	1	1	69	303	0	92	2								-20.000000	1	1	121412	4	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTLL5	23093	broad.mit.edu	37	14	76248892	76248892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76248892G>T	ENST00000298832.9	+	25	2783	c.2578G>T	c.(2578-2580)Gaa>Taa	p.E860*	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E874*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5			50					ACAGACGACAGAAATTCATTC	0.338000																								0							SO:0001587	stop_gained			ENST00000298832.9	0	1	hg19	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315407	0.97467	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.83	5.83	0.93111	.	3.520550	0.00496	N	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.6339	0.76933	0.0:0.0:1.0:0.0	.	.	.	.	X	547;874;860;411;411;369	.	ENSP00000298832:E860X	E	+	1	0	TTLL5	75318645	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	4.372000	0.59530	2.770000	0.95276	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	1	0	1	43	192	0	45	1	9.938140e-01	5	33	0	45	2		0	0	0	0	0	2	1	1	43	190	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESRRB	2103	broad.mit.edu	37	14	76905684	76905684	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905684G>A	ENST00000509242.1	+	0	86				ESRRB_ENST00000261532.7_De_novo_Start_InFrame|ESRRB_ENST00000380887.2_De_novo_Start_InFrame|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_De_novo_Start_InFrame	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta			24					GTGTCCACAGGCTGCTGAACA	0.647000																								0											ENST00000509242.1	0	1	hg19	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419138	0.62622	.	.	ENSG00000119715	ENST00000512784	D	0.92199	-2.99	4.89	4.89	0.63831	.	.	.	.	.	D	0.94725	0.8298	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94249	0.7492	5	.	.	.	.	18.0685	0.89398	0.0:0.0:1.0:0.0	.	.	.	.	I	1	ENSP00000424992:M1I	.	M	+	3	0	ESRRB	75975437	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.778000	0.99011	2.272000	0.75746	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1	0	0	0	34	728	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	1	33	715	0	155	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.520000	0.360000	0.700000	0.520000	0.533147	0.520000	0	4.400000e-01	6.200000e-01
ESRRB	2103	broad.mit.edu	37	14	76905708	76905708	+	Silent	SNP	C	C	T	rs1141580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905708C>T	ENST00000509242.1	+	3	110	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ESRRB_ENST00000261532.7_Silent_p.D4D|ESRRB_ENST00000380887.2_Silent_p.D4D|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Silent_p.D4D	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta			24					TGTCCTCGGACGACAGGCACC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000509242.1	1	1	hg19	CCDS9850.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1	1	0	0	117	614	0	154		0	0	0	0	154	2		0	0	0	0	0	2	1	1	117	601	0	151	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1737	0	broad.mit.edu	37	14	77576198	77576198	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77576198C>T	ENST00000361786.2	+	3	497	c.180C>T	c.(178-180)tcC>tcT	p.S60S	RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.S60S|KIAA1737_ENST00000555437.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN				9			Kidney(204;0.164)		AGATGGAGTCCGAGGACATGC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000361786.2	1	1	hg19	CCDS9855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1	1	0	1	84	349	0	83	1	9.994070e-01	10	38	0	83	2		0	0	0	0	0	2	1	1	83	341	0	83	2								-2.884238	1	1	121412	1	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1737	0	broad.mit.edu	37	14	77580103	77580103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77580103G>A	ENST00000361786.2	+	4	959	c.642G>A	c.(640-642)acG>acA	p.T214T	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN				9			Kidney(204;0.164)		GTCCCTCGACGCCAGCACCAC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000361786.2	1	1	hg19	CCDS9855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1	1	0	1	36	233	0	53	1	9.997930e-01	15	71	0	53	2		0	0	0	0	0	2	1	1	36	230	0	53	2								-20.000000	1	1	121412	8	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999770	0.990000	1	9.900000e-01	1
ZDHHC22	283576	broad.mit.edu	37	14	77605761	77605761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77605761G>A	ENST00000319374.4	-	2	523	c.321C>T	c.(319-321)caC>caT	p.H107H	RP11-463C8.4_ENST00000557752.1_Intron|AC007375.1_ENST00000600936.1_5'Flank	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22			3			Kidney(204;0.164)		AGTGATGGTCGTGCCTCAGGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000319374.4	1	1	hg19	CCDS45140.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	1	0	1	21	72	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999990e-01	21	71	0	12	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
ZDHHC22	283576	broad.mit.edu	37	14	77606018	77606018	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77606018T>C	ENST00000319374.4	-	2	266	c.64A>G	c.(64-66)Acc>Gcc	p.T22A	RP11-463C8.4_ENST00000557752.1_Intron|AC007375.1_ENST00000600936.1_5'Flank	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22			3			Kidney(204;0.164)		AGCACGAAGGTCACCAGGGAG	0.677000											OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000319374.4	0	1	hg19	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300149	0.95574	.	.	ENSG00000177108	ENST00000319374;ENST00000555389;ENST00000555327	T	0.55930	0.49	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.29908	0.895	0.80722	D	1	P	0.46656	0.882	P	0.48571	0.582	T	0.32348	-0.9910	10	0.09843	T	0.71	.	14.4951	0.67680	0.0:0.0:0.0:1.0	.	22	Q8N966	ZDH22_HUMAN	A	22	ENSP00000318222:T22A	ENSP00000318222:T22A	T	-	1	0	ZDHHC22	76675771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.673000	0.83973	2.163000	0.67991	0.459000	0.35465	ACC		TCGA-IB-7651-01A-11D-2154-08	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	1	0	1	7	46	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.791295e-01	7	43	0	10	2								-14.185130	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.680000	1.000000	1.000000	0.973512	0.990000	1	9.900000e-01	1
POMT2	29954	broad.mit.edu	37	14	77787020	77787020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77787020G>A	ENST00000261534.4	-	1	207	c.5C>T	c.(4-6)cCg>cTg	p.P2L	GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000349555.3_5'Flank|GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000557053.1_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000393734.1_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2			14			Kidney(204;0.164)		CGTGGCCGGCGGCATCTTCCC	0.746000																								0							SO:0001583	missense			ENST00000261534.4	1	1	hg19	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139893	0.37728	.	.	ENSG00000009830	ENST00000261534	T	0.76709	-1.04	4.99	1.9	0.25705	.	0.388197	0.26275	N	0.025302	T	0.52805	0.1757	N	0.08118	0	0.35751	D	0.819457	B	0.19073	0.033	B	0.09377	0.004	T	0.54576	-0.8273	10	0.72032	D	0.01	-11.0857	4.1682	0.10317	0.0892:0.1589:0.5879:0.164	.	2	Q9UKY4	POMT2_HUMAN	L	2	ENSP00000261534:P2L	ENSP00000261534:P2L	P	-	2	0	POMT2	76856773	1.000000	0.71417	0.972000	0.41901	0.262000	0.26303	3.318000	0.51975	1.051000	0.40369	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	1	0	0	30	109	0	20	0	3.046709e-01	0	5	0	20	2		0	0	0	0	0	2	1	1	29	109	0	19	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TMED8	283578	broad.mit.edu	37	14	77810118	77810118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77810118G>A	ENST00000216468.7	-	4	431	c.376C>T	c.(376-378)Cag>Tag	p.Q126*		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8			15			Kidney(204;0.164)		TGTTCAGACTGGATCATAACG	0.448000																								0							SO:0001587	stop_gained			ENST00000216468.7	0	1	hg19	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492065	0.96339	.	.	ENSG00000100580	ENST00000216468	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000216468:Q126X	Q	-	1	0	TMED8	76879871	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.359000	0.73060	2.833000	0.97629	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	1	0	1	120	602	1	128	0	7.388947e-01	1	14	1	128	2		0	0	0	0	0	2	1	1	119	591	1	127	19								-2.624738	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMED8	283578	broad.mit.edu	37	14	77812773	77812773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77812773C>T	ENST00000216468.7	-	3	301	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8			15			Kidney(204;0.164)		CAGTTGCTTTCCGCAGATCTT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000216468.7	1	1	hg19	CCDS32125.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	1	0	1	70	371	0	79	1	8.661860e-01	4	17	0	79	2		0	0	0	0	0	2	1	1	67	367	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ISM2	145501	broad.mit.edu	37	14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942269C>T	ENST00000342219.4	-	7	1441	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000429906.1_Missense_Mutation_p.R381H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.R374H	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2			21					CAGGCGCTCGCGAGGGCCACT	0.672000																								0							SO:0001583	missense			ENST00000342219.4	1	1	hg19	CCDS9864.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.228	1.035076	0.19590	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24723	1.84;1.87;1.87;2.18	4.85	-1.09	0.09904	AMOP (3);	0.470130	0.21324	N	0.076419	T	0.17365	0.0417	L	0.50333	1.59	0.09310	N	1	B;B	0.29232	0.055;0.238	B;B	0.20955	0.011;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	-1.9949	5.174	0.15126	0.0:0.3412:0.155:0.5038	.	381;462	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	H	462;381;381;374	ENSP00000341490:R462H;ENSP00000416773:R381H;ENSP00000395387:R381H;ENSP00000377289:R374H	ENSP00000341490:R462H	R	-	2	0	ISM2	77012022	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.959000	0.29240	-0.097000	0.12307	-0.467000	0.05162	CGC		TCGA-IB-7651-01A-11D-2154-08	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	0	0	0	9	242	0	36	0	4.974122e-03	0	3	0	36	2		0	0	0	0	0	2	1	9.940337e-01	8	239	0	36	2								-10.662100	1	0	121112	4	31	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.430000	0.210000	0.740000	0.410000	0.453765	0.430000	0	3.100000e-01	5.900000e-01
ISM2	145501	broad.mit.edu	37	14	77942335	77942335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942335C>T	ENST00000342219.4	-	7	1375	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|ISM2_ENST00000429906.1_Missense_Mutation_p.S359N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.S352N	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2			21					GCTCACAGGGCTGTCCATGGC	0.652000																								0							SO:0001583	missense			ENST00000342219.4	1	1	hg19	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394399	0.11638	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24538	1.85;1.87;1.86;2.18	4.98	4.09	0.47781	AMOP (3);	0.250260	0.44097	D	0.000485	T	0.18800	0.0451	L	0.28115	0.83	0.18873	N	0.999986	B;B	0.30068	0.225;0.267	B;B	0.28385	0.032;0.089	T	0.12293	-1.0553	10	0.41790	T	0.15	-4.4567	13.3096	0.60371	0.0:0.9229:0.0:0.0771	.	359;440	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	N	440;359;359;352	ENSP00000341490:S440N;ENSP00000416773:S359N;ENSP00000395387:S359N;ENSP00000377289:S352N	ENSP00000341490:S440N	S	-	2	0	ISM2	77012088	0.996000	0.38824	0.001000	0.08648	0.001000	0.01503	3.227000	0.51262	1.098000	0.41479	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	1	0	1	69	256	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	69	252	0	52	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTLC2	9517	broad.mit.edu	37	14	78063618	78063618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78063618C>T	ENST00000216484.2	-	2	431	c.238G>A	c.(238-240)Gta>Ata	p.V80I		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2			19			Kidney(204;0.164)	L-Serine(DB00133)	AGGGTGAGTACGCCATACCCC	0.398000																								0							SO:0001583	missense			ENST00000216484.2	1	1	hg19	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.663|4.663	0.123259|0.123259	0.08931|0.08931	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|T	.|0.69806	.|-0.43	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.127042	.|0.53938	.|D	.|0.000048	T|T	0.29817|0.29817	0.0745|0.0745	N|N	0.00926|0.00926	-1.1|-1.1	0.42181|0.42181	D|D	0.991685|0.991685	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.02654	.|T	.|1	-16.3828|-16.3828	9.2779|9.2779	0.37711|0.37711	0.0:0.8383:0.0:0.1617|0.0:0.8383:0.0:0.1617	.|.	.|80	.|O15270	.|SPTC2_HUMAN	H|I	16|80	.|ENSP00000216484:V80I	.|ENSP00000216484:V80I	R|V	-|-	2|1	0|0	SPTLC2|SPTLC2	77133371|77133371	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.994000|0.994000	0.84299|0.84299	3.820000|3.820000	0.55693|0.55693	2.412000|2.412000	0.81896|0.81896	0.591000|0.591000	0.81541|0.81541	CGT|GTA		TCGA-IB-7651-01A-11D-2154-08	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	1	0	1	58	193	0	42	1	1	17	82	0	42	2		0	0	0	0	0	2	1	1	57	189	0	41	2								-4.307671	1	1	121410	4	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALKBH1	8846	broad.mit.edu	37	14	78142126	78142126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78142126C>T	ENST00000216489.3	-	5	628	c.613G>A	c.(613-615)Gct>Act	p.A205T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)			9			Kidney(204;0.164)		CCACAGGCAGCGGCTACTTGC	0.458000																								0							SO:0001583	missense			ENST00000216489.3	1	1	hg19	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834784	0.32421	.	.	ENSG00000100601	ENST00000216489	T	0.12039	2.72	6.17	1.31	0.21738	.	0.172481	0.51477	N	0.000096	T	0.10380	0.0254	L	0.49778	1.585	0.29447	N	0.858722	P	0.37663	0.604	B	0.32465	0.146	T	0.24012	-1.0172	10	0.15499	T	0.54	-20.6112	10.5931	0.45321	0.0:0.6266:0.0:0.3734	.	205	Q13686	ALKB1_HUMAN	T	205	ENSP00000216489:A205T	ENSP00000216489:A205T	A	-	1	0	ALKBH1	77211879	0.005000	0.15991	0.031000	0.17742	0.888000	0.51559	0.135000	0.15952	-0.021000	0.14009	-0.123000	0.14984	GCT		TCGA-IB-7651-01A-11D-2154-08	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	1	0	1	58	293	0	64	1	9.997712e-01	18	47	0	64	2		0	0	0	0	0	2	1	1	56	287	0	63	2								-3.166768	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNW1	22938	broad.mit.edu	37	14	78189607	78189607	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78189607T>C	ENST00000261531.7	-	11	1109	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	SNW1_ENST00000555761.1_Silent_p.A349A|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.A187A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1			24			Kidney(204;0.164)		CCCTCTCACGTGCCTCCCCAT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000261531.7	1	1	hg19	CCDS9867.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	1	0	1	91	399	0	97	1	1	104	299	0	97	2		0	0	0	0	0	2	1	1	87	377	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNW1	22938	broad.mit.edu	37	14	78221419	78221419	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78221419G>T	ENST00000261531.7	-	2	121	c.59C>A	c.(58-60)gCt>gAt	p.A20D	SNW1_ENST00000555761.1_Missense_Mutation_p.A20D|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1			24			Kidney(204;0.164)		CTTTTCTTCAGCCTCAAGCTG	0.453000																								0							SO:0001583	missense			ENST00000261531.7	1	1	hg19	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671489	0.47781	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	6.04	6.04	0.98038	.	0.145914	0.64402	D	0.000009	T	0.41373	0.1156	N	0.26042	0.785	0.58432	D	0.999999	B;B	0.24186	0.001;0.099	B;B	0.19946	0.002;0.027	T	0.27502	-1.0072	9	0.14252	T	0.57	.	11.4594	0.50202	0.1068:0.0:0.8932:0.0	.	20;20	G3V3A4;Q13573	.;SNW1_HUMAN	D	20	.	ENSP00000261531:A20D	A	-	2	0	SNW1	77291172	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.028000	0.70889	2.873000	0.98535	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	1	0	1	25	142	0	32	1	9.999999e-01	37	126	0	32	2		0	0	0	0	0	2	1	9.999999e-01	25	140	0	30	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999719	0.990000	1	9.900000e-01	1
ADCK1	57143	broad.mit.edu	37	14	78365490	78365490	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78365490G>A	ENST00000238561.5	+	6	729	c.630G>A	c.(628-630)atG>atA	p.M210I	ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1			25			Kidney(204;0.164)		TTGAGTTTATGTGGCTTGTGG	0.502000																								0							SO:0001583	missense			ENST00000238561.5	1	1	hg19	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553053	0.45487	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.54071	0.59;0.59;0.59	5.53	3.64	0.41730	.	0.118251	0.85682	N	0.000000	T	0.40791	0.1131	L	0.31294	0.92	0.80722	D	1	B;B	0.23806	0.091;0.05	B;B	0.29663	0.105;0.037	T	0.27773	-1.0064	10	0.36615	T	0.2	-51.955	10.9727	0.47448	0.0702:0.13:0.7999:0.0	.	142;210	Q9UIE6;Q86TW2-2	.;.	I	210;210;142	ENSP00000238561:M210I;ENSP00000451549:M210I;ENSP00000339663:M142I	ENSP00000238561:M210I	M	+	3	0	ADCK1	77435243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.677000	0.74503	1.335000	0.45486	0.591000	0.81541	ATG		TCGA-IB-7651-01A-11D-2154-08	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	1	0	1	127	520	0	142	1	9.096124e-01	3	16	0	142	2		0	0	0	0	0	2	1	1	121	507	0	139	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCK1	57143	broad.mit.edu	37	14	78390815	78390815	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78390815G>T	ENST00000238561.5	+	8	973	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C	ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1			25			Kidney(204;0.164)		ACGCCACCTGGGCAAGATGTA	0.572000																								0							SO:0001583	missense			ENST00000238561.5	1	1	hg19	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986766	0.93106	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;D;T	0.81739	1.57;-1.53;1.57	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.85455	0.1163	10	0.36615	T	0.2	-19.8807	19.6876	0.95986	0.0:0.0:1.0:0.0	.	224;292	Q9UIE6;Q86TW2-2	.;.	C	292;253;224	ENSP00000238561:G292C;ENSP00000451549:G253C;ENSP00000339663:G224C	ENSP00000238561:G292C	G	+	1	0	ADCK1	77460568	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.665000	0.98609	2.659000	0.90383	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	1	0	1	67	305	0	69	1	8.350407e-01	6	10	0	69	2		0	0	0	0	0	2	1	1	66	296	0	68	2								-3.006789	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCK1	57143	broad.mit.edu	37	14	78392209	78392209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78392209G>A	ENST00000238561.5	+	9	1210	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1			25			Kidney(204;0.164)		ACTGGGAGCCGGGGATCTCTA	0.582000																								0							SO:0001583	missense			ENST00000238561.5	1	1	hg19	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966020	0.92855	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.68181	-0.31;1.1	5.26	5.26	0.73747	.	0.049936	0.85682	D	0.000000	D	0.83894	0.5353	M	0.86805	2.84	0.80722	D	1	D;D;D	0.65815	0.995;0.99;0.992	P;P;D	0.66979	0.823;0.868;0.948	D	0.85534	0.1211	10	0.49607	T	0.09	-20.5345	18.8748	0.92331	0.0:0.0:1.0:0.0	.	378;303;371	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	R	371;303	ENSP00000238561:G371R;ENSP00000339663:G303R	ENSP00000238561:G371R	G	+	1	0	ADCK1	77461962	1.000000	0.71417	0.385000	0.26158	0.882000	0.50991	9.818000	0.99354	2.461000	0.83175	0.643000	0.83706	GGG		TCGA-IB-7651-01A-11D-2154-08	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	1	0	1	158	735	0	188	1	9.633347e-01	3	24	0	188	2		0	0	0	0	0	2	1	1	154	719	0	187	2								-2.684782	1	1	121412	5	43	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRXN3	9369	broad.mit.edu	37	14	79175641	79175641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175641G>A	ENST00000554719.1	+	4	675	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3			104		Renal(4;0.00876)			AATCTATGGCGAAGTTGTGTT	0.468000																								0							SO:0001583	missense			ENST00000554719.1	1	1	hg19	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118189	0.37339	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000553631;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T;T	0.78595	-1.19;-0.25;-0.25;-1.19	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.126176	0.56097	D	0.000030	T	0.57330	0.2046	N	0.08118	0	0.46849	D	0.999226	P;P	0.42993	0.797;0.622	B;B	0.32090	0.085;0.14	T	0.61302	-0.7090	9	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	435;62	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	K	435;433;6;62;62;6	ENSP00000451947:E6K;ENSP00000451648:E62K;ENSP00000338349:E62K;ENSP00000450462:E6K	.	E	+	1	0	NRXN3	78245394	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.968000	0.87980	2.518000	0.84900	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	0	0	1	78	325	0	85	0	3.843581e-02	0	2	0	85	2		0	0	0	0	0	2	1	1	77	322	0	85	2								-20.000000	1	0	121410	2	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRXN3	9369	broad.mit.edu	37	14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	rs140528152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79433613G>A	ENST00000554719.1	+	10	2212	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3			104		Renal(4;0.00876)			AACAGTGACCGCCCCCTGAAT	0.423000																								0							SO:0001583	missense			ENST00000554719.1	1	1	hg19	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288622	0.80914	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78126	-1.15;-1.15	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.233245	0.41938	D	0.000781	D	0.85639	0.5743	.	.	.	0.50813	D	0.999897	D;B	0.65815	0.995;0.137	P;B	0.55871	0.786;0.027	D	0.83950	0.0316	8	.	.	.	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	947;574	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	947;936;574;574	ENSP00000451648:R574H;ENSP00000338349:R574H	.	R	+	2	0	NRXN3	78503366	0.998000	0.40836	0.992000	0.48379	0.685000	0.39939	3.259000	0.51515	2.873000	0.98535	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	1	0	1	58	242	0	46	0	3.333346e-01	0	6	0	46	2		0	0	0	0	0	2	1	1	56	235	0	46	2								-3.449965	1	1	121412	13	41	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRXN3	9369	broad.mit.edu	37	14	79454462	79454462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79454462T>C	ENST00000554719.1	+	12	2612	c.2121T>C	c.(2119-2121)taT>taC	p.Y707Y	NRXN3_ENST00000335750.5_Silent_p.Y707Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3			104		Renal(4;0.00876)			TGACCTCTTATTCTGGAAACC	0.438000																								0							SO:0001819	synonymous_variant			ENST00000554719.1	1	1	hg19	CCDS9870.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	0	0	1	91	461	0	107	0	2.782711e-02	0	2	0	107	2		0	0	0	0	0	2	1	1	89	455	0	106	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHR	7253	broad.mit.edu	37	14	81554371	81554371	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81554371C>A	ENST00000541158.2	+	5	713	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TSHR_ENST00000342443.6_Splice_Site_p.L131I|TSHR_ENST00000298171.2_Splice_Site_p.L131I|TSHR_ENST00000554435.1_Splice_Site_p.L131I|TSHR_ENST00000554263.1_Splice_Site_p.L131I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor			337				Thyrotropin Alfa(DB00024)	CCTAAAGTTCCTGTAAGTATT	0.458000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0							SO:0001630	splice_region_variant			ENST00000541158.2	1	0	hg19	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412972	0.83449	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.90145	3.09	0.58432	D	0.999999	D;B;D;P	0.67145	0.985;0.321;0.996;0.637	D;P;D;P	0.75484	0.986;0.631;0.973;0.546	D	0.96868	0.9637	10	0.46703	T	0.11	.	15.6391	0.76981	0.0:1.0:0.0:0.0	.	131;131;131;131	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	I	131	ENSP00000441235:L131I;ENSP00000340113:L131I;ENSP00000298171:L131I;ENSP00000451202:L131I;ENSP00000450549:L131I	ENSP00000298171:L131I	L	+	1	0	TSHR	80624124	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.601000	0.61090	2.764000	0.94973	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	1	0	1	55	225	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1	55	221	0	64	2								-3.346851	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHR	7253	broad.mit.edu	37	14	81609439	81609439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609439C>T	ENST00000541158.2	+	11	1359	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	TSHR_ENST00000298171.2_Missense_Mutation_p.T346I|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor			337				Thyrotropin Alfa(DB00024)	TTCCAGGATACTCATAACAAC	0.438000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0							SO:0001583	missense			ENST00000541158.2	1	1	hg19	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.404780	0.01155	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75154	-0.91;-0.91	5.78	-1.26	0.09376	.	0.851176	0.10874	N	0.624546	T	0.50871	0.1641	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25537	-1.0129	10	0.18710	T	0.47	.	2.0865	0.03647	0.1153:0.3039:0.1487:0.4321	.	346	F5GYU5	.	I	346	ENSP00000441235:T346I;ENSP00000298171:T346I	ENSP00000298171:T346I	T	+	2	0	TSHR	80679192	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.914000	0.28624	-0.070000	0.12908	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	1	0	1	86	409	0	109	0	3.093258e-02	0	2	0	109	2		0	0	0	0	0	2	1	1	84	398	0	108	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHR	7253	broad.mit.edu	37	14	81609861	81609861	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609861G>A	ENST00000541158.2	+	11	1781	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	TSHR_ENST00000298171.2_Missense_Mutation_p.D487N|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor			337				Thyrotropin Alfa(DB00024)	CCATGCCATCGACTGGCAGAC	0.552000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0							SO:0001583	missense			ENST00000541158.2	1	1	hg19	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453515	0.63290	0.0	1.16E-4	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.85484	-1.99;-1.99	5.64	5.64	0.86602	.	0.084418	0.85682	D	0.000000	D	0.84147	0.5408	M	0.74881	2.28	0.58432	D	0.999999	B	0.34161	0.439	B	0.32149	0.141	D	0.84814	0.0792	10	0.66056	D	0.02	.	12.9763	0.58538	0.074:0.0:0.926:0.0	.	487	F5GYU5	.	N	487;134;487	ENSP00000441235:D487N;ENSP00000298171:D487N	ENSP00000298171:D487N	D	+	1	0	TSHR	80679614	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	8.061000	0.89467	2.664000	0.90586	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	1	0	1	85	297	0	72	0	5.060877e-02	0	2	0	72	2		0	0	0	0	0	2	1	1	85	289	0	72	2								-20.000000	1	1	121412	5	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STON2	85439	broad.mit.edu	37	14	81862432	81862432	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81862432G>T	ENST00000267540.2	-	2	379	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	STON2_ENST00000555447.1_Missense_Mutation_p.S60Y	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2			34					ATGGTCTTGAGAGCCTCCATC	0.602000																								0							SO:0001583	missense			ENST00000267540.2	1	1	hg19	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108371	0.37242	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	D;D	0.82081	-1.57;-1.57	5.82	5.82	0.92795	Stonin-2, N-terminal (1);	0.399278	0.26126	N	0.026196	T	0.80768	0.4686	L	0.56769	1.78	0.30386	N	0.781489	B;P;B	0.35155	0.213;0.487;0.178	B;B;B	0.37650	0.09;0.255;0.054	T	0.81035	-0.1115	10	0.51188	T	0.08	-16.2854	11.0189	0.47707	0.0841:0.0:0.9159:0.0	.	60;60;60	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	Y	60;72;60	ENSP00000450857:S60Y;ENSP00000267540:S60Y	ENSP00000267540:S60Y	S	-	2	0	STON2	80932185	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	1.966000	0.40481	2.751000	0.94390	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	1	0	1	35	293	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1	35	290	0	50	2								-3.318795	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.890000	1.000000	1.000000	0.993286	0.990000	1	9.900000e-01	1
FLRT2	23768	broad.mit.edu	37	14	86088565	86088565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86088565C>T	ENST00000330753.4	+	2	1474	c.707C>T	c.(706-708)tCa>tTa	p.S236L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2			73					AAGGAATTTTCAATTGTACGT	0.517000																								0							SO:0001583	missense			ENST00000330753.4	1	1	hg19	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989031	0.74589	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57107	0.42;0.42	5.78	5.78	0.91487	.	0.057139	0.64402	D	0.000001	T	0.44623	0.1302	N	0.21097	0.63	0.80722	D	1	P	0.48089	0.905	B	0.43728	0.429	T	0.21484	-1.0244	10	0.19590	T	0.45	-14.9232	20.0026	0.97425	0.0:1.0:0.0:0.0	.	236	O43155	FLRT2_HUMAN	L	236	ENSP00000332879:S236L;ENSP00000451050:S236L	ENSP00000332879:S236L	S	+	2	0	FLRT2	85158318	1.000000	0.71417	0.474000	0.27266	0.730000	0.41778	7.817000	0.86213	2.722000	0.93159	0.650000	0.86243	TCA		TCGA-IB-7651-01A-11D-2154-08	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	1	0	1	98	380	0	91	0	9.981434e-01	0	39	0	91	2		0	0	0	0	0	2	1	1	96	376	0	89	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLRT2	23768	broad.mit.edu	37	14	86089311	86089311	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86089311C>T	ENST00000330753.4	+	2	2220	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2			73					TAACTTAGAGCCCCGATCCAC	0.522000																								0							SO:0001583	missense			ENST00000330753.4	1	1	hg19	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544586	0.45280	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.68479	-0.33;-0.33	5.87	5.87	0.94306	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	L	0.55990	1.75	0.80722	D	1	P	0.44139	0.827	B	0.42087	0.375	T	0.71686	-0.4518	10	0.87932	D	0	-27.8567	20.5827	0.99408	0.0:1.0:0.0:0.0	.	485	O43155	FLRT2_HUMAN	S	485;485;138	ENSP00000332879:P485S;ENSP00000451050:P485S	ENSP00000332879:P485S	P	+	1	0	FLRT2	85159064	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	1	0	1	109	551	0	142	0	9.953042e-01	0	43	0	142	2		0	0	0	0	0	2	1	1	106	544	0	141	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALC	2581	broad.mit.edu	37	14	88411996	88411996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88411996C>T	ENST00000261304.2	-	14	1677	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	GALC_ENST00000544807.2_Missense_Mutation_p.G468D|GALC_ENST00000393569.2_Missense_Mutation_p.G498D|GALC_ENST00000393568.4_Missense_Mutation_p.G501D	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase			21					GTGATGCTCGCCAGGGTCTTC	0.408000																								0							SO:0001583	missense			ENST00000261304.2	0	1	hg19	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854964	0.51376	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.51	3.57	0.40892	.	0.102365	0.64402	D	0.000002	D	0.93080	0.7797	M	0.64676	1.99	0.58432	D	0.999999	B;B;B;B	0.23990	0.013;0.044;0.035;0.095	B;B;B;B	0.31245	0.01;0.091;0.032;0.126	D	0.91738	0.5402	10	0.51188	T	0.08	-13.2204	13.2731	0.60172	0.1253:0.7539:0.1208:0.0	.	468;501;498;524	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	D	524;468;498;313;501	ENSP00000261304:G524D;ENSP00000437513:G468D;ENSP00000377199:G498D;ENSP00000377198:G501D	ENSP00000261304:G524D	G	-	2	0	GALC	87481749	1.000000	0.71417	0.884000	0.34674	0.018000	0.09664	5.790000	0.69038	1.444000	0.47605	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2	0	0	0	11	521	0	95	1	8.489805e-01	5	158	0	95	2		0	0	0	0	0	2	1	9.982363e-01	11	514	0	95	2								-3.376155	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.240000	0.120000	0.410000	0.240000	0.260777	0.240000	0	1.800000e-01	3.300000e-01
GALC	2581	broad.mit.edu	37	14	88431876	88431876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88431876C>T	ENST00000261304.2	-	9	1112	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	GALC_ENST00000544807.2_Missense_Mutation_p.V280M|GALC_ENST00000393569.2_Missense_Mutation_p.V310M|GALC_ENST00000393568.4_Missense_Mutation_p.V313M	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase			21					GATTCTACCACGTAGTGCCCA	0.458000																								0							SO:0001583	missense			ENST00000261304.2	1	0	hg19	CCDS9878.2	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	14.70	2.613413	0.46631	0.014568	0.0	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568;ENST00000445021	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	6.17	3.32	0.38043	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.671454	0.15342	N	0.267443	D	0.94208	0.8141	M	0.85630	2.765	0.21064	N	0.999799	D;P;P;P;P	0.53745	0.962;0.944;0.935;0.935;0.947	B;P;P;B;P	0.54544	0.315;0.755;0.606;0.221;0.618	D	0.87709	0.2565	10	0.48119	T	0.1	-0.2496	6.8754	0.24143	0.0:0.6588:0.1291:0.2121	.	280;313;310;336;336	P54803-5;E7EPA4;P54803-4;G3XAI6;P54803	.;.;.;.;GALC_HUMAN	M	336;280;310;125;313;336	ENSP00000261304:V336M;ENSP00000437513:V280M;ENSP00000377199:V310M;ENSP00000377198:V313M	ENSP00000261304:V336M	V	-	1	0	GALC	87501629	0.000000	0.05858	0.070000	0.20053	0.844000	0.47949	0.498000	0.22530	0.447000	0.26695	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2	0	0	1	49	251	0	58	1	1	65	168	0	58	2		0	0	0	0	0	2	1	1	49	247	0	57	2								-4.150741	1	1	120846	131	53	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR65	8477	broad.mit.edu	37	14	88477387	88477387	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88477387A>C	ENST00000267549.3	+	2	754	c.196A>C	c.(196-198)Act>Cct	p.T66P	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65			16					CTATGCATTAACTCTCCCTTT	0.378000																								0							SO:0001583	missense			ENST00000267549.3	0	1	hg19	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165130	0.57476	.	.	ENSG00000140030	ENST00000267549	T	0.73789	-0.78	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.251553	0.29314	N	0.012518	D	0.87466	0.6184	M	0.87900	2.915	0.39757	D	0.971971	D	0.69078	0.997	D	0.67548	0.952	D	0.89914	0.4054	10	0.62326	D	0.03	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	66	Q8IYL9	PSYR_HUMAN	P	66	ENSP00000267549:T66P	ENSP00000267549:T66P	T	+	1	0	GPR65	87547140	0.975000	0.34042	0.897000	0.35233	0.482000	0.33219	5.096000	0.64535	2.221000	0.72209	0.528000	0.53228	ACT		TCGA-IB-7651-01A-11D-2154-08	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4	0	0	0	13	704	0	146	0	8.711888e-02	0	25	0	146	2		0	0	0	0	0	2	1	9.994744e-01	13	691	0	146	2								-9.900300	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.210000	0.110000	0.350000	0.210000	0.226510	0.210000	0	1.600000e-01	2.800000e-01
KCNK10	54207	broad.mit.edu	37	14	88652276	88652276	+	Missense_Mutation	SNP	C	C	T	rs144714447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88652276C>T	ENST00000340700.5	-	7	1671	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H|KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10			47					GGCCTTGAAGCGGCCGGTGTC	0.667000																								0							SO:0001583	missense			ENST00000340700.5	1	1	hg19	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655498	0.47467	2.27E-4	0.0	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91945	-2.93;-2.94;-2.94	5.71	4.82	0.62117	.	0.156145	0.53938	N	0.000041	D	0.87815	0.6272	L	0.43152	1.355	0.45747	D	0.998646	B;B;B	0.15473	0.002;0.013;0.004	B;B;B	0.10450	0.001;0.005;0.002	T	0.82837	-0.0260	10	0.17369	T	0.5	.	13.9924	0.64374	0.0:0.9275:0.0:0.0725	.	407;412;412	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	H	407;412;412	ENSP00000343104:R407H;ENSP00000310568:R412H;ENSP00000312811:R412H	ENSP00000310568:R412H	R	-	2	0	KCNK10	87722029	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.954000	0.49113	1.428000	0.47296	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	1	0	1	95	377	0	59	0	0	1	0	0	59	2		0	0	0	0	0	2	1	1	97	373	0	58	2								-20.000000	1	1	121412	4	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK10	54207	broad.mit.edu	37	14	88654372	88654372	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88654372G>A	ENST00000340700.5	-	6	1386	c.935C>T	c.(934-936)gCa>gTa	p.A312V	KCNK10_ENST00000312350.5_Missense_Mutation_p.A317V|KCNK10_ENST00000319231.5_Missense_Mutation_p.A317V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10			47					GAGGACAGCTGCAAAGTAGGC	0.473000																								0							SO:0001583	missense			ENST00000340700.5	0	1	hg19	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411462	0.96072	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.32023	1.47;1.47;1.47	5.82	5.82	0.92795	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.97110	1.0;1.0;0.954	T	0.50882	-0.8775	10	0.45353	T	0.12	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	312;317;317	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	V	312;317;317	ENSP00000343104:A312V;ENSP00000310568:A317V;ENSP00000312811:A317V	ENSP00000310568:A317V	A	-	2	0	KCNK10	87724125	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.837000	0.99465	2.756000	0.94617	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	0	0	0	11	567	1	121	0	2.680293e-03	0	4	1	121	2		0	0	0	0	0	2	0	1.511013e-01	11	553	1	120	17								-2.775983	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.220000	0.110000	0.380000	0.220000	0.240275	0.220000	0	1.600000e-01	3.100000e-01
KCNK10	54207	broad.mit.edu	37	14	88658693	88658693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88658693C>T	ENST00000340700.5	-	5	1179	c.728G>A	c.(727-729)gGc>gAc	p.G243D	KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D|KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10			47					CACAATGCAGCCGGCCAAGAT	0.507000																								0							SO:0001583	missense			ENST00000340700.5	1	1	hg19	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438248	0.96168	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.24538	1.85;1.85;1.85	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74284	-0.3715	10	0.66056	D	0.02	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	243;248;248	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	D	243;248;248	ENSP00000343104:G243D;ENSP00000310568:G248D;ENSP00000312811:G248D	ENSP00000310568:G248D	G	-	2	0	KCNK10	87728446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.790000	0.95986	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	1	0	1	83	466	0	124	0	2.347510e-02	1	1	0	124	2		0	0	0	0	0	2	1	1	80	460	0	122	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPATA7	55812	broad.mit.edu	37	14	88904553	88904553	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88904553C>T	ENST00000393545.4	+	12	1876	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	SPATA7_ENST00000556553.1_Silent_p.D497D|SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000045347.7_Intron	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7			18					GTATTTCAGACAGTTTAACAG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000393545.4	1	1	hg19	CCDS9883.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1	1	0	0	50	320	0	82	1	9.747355e-01	11	29	0	82	2		0	0	0	0	0	2	1	1	47	312	0	82	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
PTPN21	11099	broad.mit.edu	37	14	88946237	88946237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88946237C>T	ENST00000556564.1	-	13	1822	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21			45					GTAGCTCAGGCTGAACGGGCA	0.711000																								0							SO:0001583	missense			ENST00000556564.1	1	1	hg19	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	0.939	-0.710303	0.03230	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71222	-0.55;-0.55	5.35	-10.7	0.00240	.	0.392170	0.29987	N	0.010681	T	0.21674	0.0522	N	0.00521	-1.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46062	-0.9218	10	0.02654	T	1	.	8.8099	0.34961	0.0:0.2595:0.4736:0.2669	.	513	Q16825	PTN21_HUMAN	N	513	ENSP00000330276:S513N;ENSP00000452414:S513N	ENSP00000330276:S513N	S	-	2	0	PTPN21	88015990	0.516000	0.26218	0.000000	0.03702	0.349000	0.29174	0.820000	0.27323	-2.497000	0.00513	-0.311000	0.09066	AGC		TCGA-IB-7651-01A-11D-2154-08	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	1	0	0	101	422	0	74	1	4.070651e-01	3	4	0	74	2		0	0	0	0	0	2	1	1	101	413	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN21	11099	broad.mit.edu	37	14	88983460	88983460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983460G>T	ENST00000556564.1	-	3	610	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21			45					CTGCAGCTGAGAAACTGAAGG	0.403000																								0							SO:0001583	missense			ENST00000556564.1	1	1	hg19	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984700	0.35036	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78595	-1.19;-1.19;-1.19	5.77	3.96	0.45880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.361101	0.26307	N	0.025124	D	0.85609	0.5736	M	0.85777	2.775	0.09310	N	0.999997	B;P	0.48016	0.125;0.904	B;P	0.54312	0.094;0.748	T	0.79266	-0.1874	10	0.87932	D	0	.	12.6804	0.56918	0.1189:0.0:0.8811:0.0	.	109;109	G3V3S6;Q16825	.;PTN21_HUMAN	Y	109	ENSP00000330276:S109Y;ENSP00000452414:S109Y;ENSP00000451401:S109Y	ENSP00000330276:S109Y	S	-	2	0	PTPN21	88053213	0.987000	0.35691	0.012000	0.15200	0.253000	0.25986	3.331000	0.52075	0.796000	0.33947	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	1	0	1	63	276	0	61	1	9.864643e-01	5	27	0	61	2		0	0	0	0	0	2	1	1	63	271	0	60	2								-3.457715	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN21	11099	broad.mit.edu	37	14	88983472	88983472	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983472A>G	ENST00000556564.1	-	3	598	c.314T>C	c.(313-315)gTg>gCg	p.V105A	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21			45					AACTGAAGGCACATAAAACAC	0.403000																								0							SO:0001583	missense			ENST00000556564.1	1	1	hg19	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417638	0.62622	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78364	-1.17;-1.17;-1.17	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.076746	0.51477	D	0.000088	T	0.80253	0.4589	L	0.39633	1.23	0.44627	D	0.997602	P;P	0.51537	0.855;0.946	P;P	0.54060	0.615;0.741	T	0.82333	-0.0509	10	0.72032	D	0.01	.	16.1024	0.81184	1.0:0.0:0.0:0.0	.	105;105	G3V3S6;Q16825	.;PTN21_HUMAN	A	105	ENSP00000330276:V105A;ENSP00000452414:V105A;ENSP00000451401:V105A	ENSP00000330276:V105A	V	-	2	0	PTPN21	88053225	1.000000	0.71417	0.999000	0.59377	0.147000	0.21601	9.339000	0.96797	2.200000	0.70718	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	1	0	1	65	285	0	62	1	9.812149e-01	5	25	0	62	2		0	0	0	0	0	2	1	1	65	282	0	61	2								-20.000000	1	0	121412	1	26	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H14	79882	broad.mit.edu	37	14	89038501	89038501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89038501C>T	ENST00000251038.5	+	5	588	c.363C>T	c.(361-363)agC>agT	p.S121S	ZC3H14_ENST00000555755.1_Silent_p.S121S|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000336693.4_Silent_p.S87S|ZC3H14_ENST00000359301.3_Silent_p.S87S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000302216.8_Silent_p.S121S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14			21					CCATTCCTAGCGCGAGACCTG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000251038.5	1	1	hg19	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574602	0.03882	0.0	1.16E-4	ENSG00000100722	ENST00000556000	.	.	.	5.66	2.84	0.33178	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52480	-0.8570	4	.	.	.	-1.469	10.1704	0.42906	0.0:0.734:0.0:0.266	.	.	.	.	V	37	.	.	A	+	2	0	ZC3H14	88108254	0.187000	0.23238	0.682000	0.30024	0.019000	0.09904	0.223000	0.17719	0.323000	0.23307	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	0	0	0	83	344	0	92	1	1	42	87	0	92	2		0	0	0	0	0	2	1	1	80	335	0	91	2								-3.367638	1	1	121412	1	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H14	79882	broad.mit.edu	37	14	89039209	89039209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89039209G>A	ENST00000251038.5	+	6	944	c.719G>A	c.(718-720)aGt>aAt	p.S240N	ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14			21					CAGCAGAATAGTATTCATGCT	0.408000																								0							SO:0001583	missense			ENST00000251038.5	1	1	hg19	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.728675|1.728675	0.30593|0.30593	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.92|5.92	3.1|3.1	0.35709|0.35709	.|.	0.147633|.	0.64402|.	D|.	0.000009|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.10685|0.10685	0.025|0.025	0.32355|0.32355	N|N	0.557954|0.557954	B;B;B;B;B;B|.	0.14012|.	0.001;0.003;0.001;0.001;0.009;0.001|.	B;B;B;B;B;B|.	0.16722|.	0.003;0.011;0.003;0.001;0.016;0.002|.	T|T	0.36237|0.36237	-0.9756|-0.9756	9|5	0.11794|.	T|.	0.64|.	-8.3463|-8.3463	11.4889|11.4889	0.50369|0.50369	0.2368:0.0:0.7632:0.0|0.2368:0.0:0.7632:0.0	.|.	240;221;240;240;240;240|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	N|I	240;240;240;206;240;221;240;85;206;240;240;206|156	.|.	ENSP00000251038:S240N|.	S|V	+|+	2|1	0|0	ZC3H14|ZC3H14	88108962|88108962	0.965000|0.965000	0.33210|0.33210	0.993000|0.993000	0.49108|0.49108	0.943000|0.943000	0.58893|0.58893	0.683000|0.683000	0.25349|0.25349	1.513000|1.513000	0.48852|0.48852	0.655000|0.655000	0.94253|0.94253	AGT|GTA		TCGA-IB-7651-01A-11D-2154-08	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	1	0	1	94	427	0	114	1	9.999998e-01	33	67	0	114	2		0	0	0	0	0	2	1	1	93	424	0	114	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H14	79882	broad.mit.edu	37	14	89044479	89044479	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89044479A>G	ENST00000251038.5	+	9	1499	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14			21					GTAGAAAAAAATCAAGGTAAT	0.343000																								0							SO:0001583	missense			ENST00000251038.5	1	1	hg19	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.653|0.653	-0.808587|-0.808587	0.02819|0.02819	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.29|5.29	-4.51|-4.51	0.03483|0.03483	.|.	.|1.111380	.|0.06441	.|N	.|0.725924	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.08118|0.08118	0|0	0.24646|0.24646	N|N	0.993545|0.993545	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001;0.0;0.001	T|T	0.30880|0.30880	-0.9963|-0.9963	5|9	.|0.09590	.|T	.|0.72	0.7538|0.7538	6.1357|6.1357	0.20230|0.20230	0.1368:0.0:0.4318:0.4314|0.1368:0.0:0.4318:0.4314	.|.	.|425;406;425;425;425;425	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	V|S	341|425;425;425;391;425;406;425;270;425;425;391	.|.	.|ENSP00000251038:N425S	I|N	+|+	1|2	0|0	ZC3H14|ZC3H14	88114232|88114232	0.994000|0.994000	0.37717|0.37717	0.570000|0.570000	0.28473|0.28473	0.343000|0.343000	0.28985|0.28985	0.149000|0.149000	0.16243|0.16243	-0.454000|-0.454000	0.07066|0.07066	-0.297000|-0.297000	0.09499|0.09499	ATC|AAT		TCGA-IB-7651-01A-11D-2154-08	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	1	0	1	56	256	0	81	1	1	49	133	0	81	2		0	0	0	0	0	2	1	1	56	254	0	81	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML5	161436	broad.mit.edu	37	14	89083140	89083140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89083140C>T	ENST00000380664.5	-	40	5701	c.5702G>A	c.(5701-5703)gGa>gAa	p.G1901E	EML5_ENST00000554922.1_Missense_Mutation_p.G1909E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5			50					AAGACTGATTCCTGAATGAGA	0.393000																								0							SO:0001583	missense			ENST00000380664.5	1	1	hg19	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969264	0.92855	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.22134	1.97;1.97;1.97	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48647	-0.9017	10	0.48119	T	0.1	-16.733	19.2291	0.93831	0.0:1.0:0.0:0.0	.	1901	Q05BV3	EMAL5_HUMAN	E	1909;1863;1901	ENSP00000451998:G1909E;ENSP00000298315:G1863E;ENSP00000370039:G1901E	ENSP00000298315:G1863E	G	-	2	0	EML5	88152893	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.445000	0.80570	2.614000	0.88457	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1	1	0	1	49	185	0	37	0	1.990758e-01	0	4	0	37	2		0	0	0	0	0	2	1	1	48	182	0	37	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML5	161436	broad.mit.edu	37	14	89171223	89171223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89171223G>A	ENST00000380664.5	-	13	2031	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*|EML5_ENST00000554922.1_Nonsense_Mutation_p.R678*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5			50					AAGTGTAATCGAATACTATTT	0.343000																								0							SO:0001587	stop_gained			ENST00000380664.5	0	1	hg19	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	42	9.219840	0.99105	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.04	5.04	0.67666	.	0.243309	0.32624	N	0.005856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-7.7002	13.3525	0.60609	0.0:0.0:0.8037:0.1963	.	.	.	.	X	678	.	ENSP00000298315:R678X	R	-	1	2	EML5	88240976	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.033000	0.57282	2.615000	0.88500	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1	1	0	1	36	206	0	60	0	2.351957e-02	0	2	0	60	2		0	0	0	0	0	2	1	1	35	202	0	60	2								-2.817101	1	1	120770	1	28	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
TTC8	123016	broad.mit.edu	37	14	89300058	89300058	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89300058G>A	ENST00000380656.2	+	2	182	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000345383.5_Intron|TTC8_ENST00000346301.4_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8			15					TGAATTGCCAGTGCATCAGGT	0.343000																								0							SO:0001583	missense			ENST00000380656.2	1	1	hg19	CCDS32137.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251971	0.22880	.	.	ENSG00000165533	ENST00000380656	T	0.77229	-1.08	5.79	1.82	0.25136	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.18873	N	0.999988	B	0.15473	0.013	B	0.11329	0.006	T	0.37957	-0.9683	9	0.26408	T	0.33	.	4.7346	0.12982	0.2461:0.0:0.6041:0.1498	.	46	Q8TAM2-4	.	M	46	ENSP00000370031:V46M	ENSP00000370031:V46M	V	+	1	0	TTC8	88369811	0.141000	0.22595	0.160000	0.22671	0.926000	0.56050	-0.107000	0.10873	0.346000	0.23899	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	TTC8-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410866.1	1	0	1	38	237	0	48	0	2.025816e-02	0	2	0	48	2		0	0	0	0	0	2	1	1	38	230	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999900	0.990000	1	9.900000e-01	1
TTC8	123016	broad.mit.edu	37	14	89307480	89307480	+	Missense_Mutation	SNP	A	A	C	rs141439453	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89307480A>C	ENST00000345383.5	+	4	483	c.399A>C	c.(397-399)agA>agC	p.R133S	Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000338104.6_Missense_Mutation_p.R133S|TTC8_ENST00000346301.4_Missense_Mutation_p.R133S	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8			15					GAACACCCAGAACCGCCTACA	0.532000																								0							SO:0001583	missense			ENST00000345383.5	1	1	hg19	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.90|19.90|19.90	3.912562|3.912562|3.912562	0.72983|0.72983|0.72983	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000343648|ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651	.|.|T;T;T;T	.|.|0.80909	.|.|-1.3;-1.38;-1.43;-1.29	5.6|5.6|5.6	-0.831|-0.831|-0.831	0.10789|0.10789|0.10789	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.88366|0.88366|0.88366	0.6417|0.6417|0.6417	M|M|M	0.87547|0.87547|0.87547	2.89|2.89|2.89	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D	.|.|0.89917	.|.|0.993;1.0;0.999;1.0;0.998	.|.|D;D;D;D;D	.|.|0.87578	.|.|0.977;0.998;0.976;0.998;0.976	D|D|D	0.86104|0.86104|0.86104	0.1558|0.1558|0.1558	5|6|10	.|0.66056|0.62326	.|D|D	.|0.02|0.03	-19.6436|-19.6436|-19.6436	9.9788|9.9788|9.9788	0.41800|0.41800|0.41800	0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0	.|.|.	.|.|143;133;143;133;143	.|.|Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4	.|.|TTC8_HUMAN;.;.;.;.	A|H|S	123|185|133;133;133;143;133	.|.|ENSP00000339486:R133S;ENSP00000298324:R133S;ENSP00000337653:R133S;ENSP00000370031:R143S	.|ENSP00000343586:N185H|ENSP00000337653:R133S	E|N|R	+|+|+	2|1|3	0|0|2	TTC8|TTC8|TTC8	88377233|88377233|88377233	0.925000|0.925000|0.925000	0.31364|0.31364|0.31364	0.943000|0.943000|0.943000	0.38184|0.38184|0.38184	0.827000|0.827000|0.827000	0.46813|0.46813|0.46813	0.162000|0.162000|0.162000	0.16501|0.16501|0.16501	-0.385000|-0.385000|-0.385000	0.07833|0.07833|0.07833	-0.371000|-0.371000|-0.371000	0.07208|0.07208|0.07208	GAA|AAC|AGA		TCGA-IB-7651-01A-11D-2154-08	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	1	0	1	29	324	0	80	1	9.921949e-01	12	75	0	80	2		0	0	0	0	0	2	1	1	29	309	0	79	2								-2.806910	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.960000	0.660000	1.000000	1.000000	0.919151	0.960000	1	8.000000e-01	1
TTC8	123016	broad.mit.edu	37	14	89343705	89343705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89343705A>G	ENST00000345383.5	+	14	1553	c.1469A>G	c.(1468-1470)gAc>gGc	p.D490G	TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000354441.6_Missense_Mutation_p.D235G|TTC8_ENST00000358622.5_Missense_Mutation_p.D302G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000338104.6_Missense_Mutation_p.D516G|TTC8_ENST00000346301.4_Missense_Mutation_p.D460G	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8			15					GACCATGTGGACACACAACAT	0.398000																								0							SO:0001583	missense			ENST00000345383.5	0	1	hg19	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.22|17.22	3.334667|3.334667	0.60853|0.60853	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.78595|.	0.58;0.58;0.58;0.58;0.58;-1.19;-1.19|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.046399|.	0.85682|.	D|.	0.000000|.	T|T	0.73961|0.73961	0.3654|0.3654	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;B;P;B;B|.	0.59767|.	0.986;0.006;0.952;0.036;0.036|.	P;B;P;B;B|.	0.57846|.	0.828;0.02;0.612;0.044;0.073|.	T|T	0.74426|0.74426	-0.3669|-0.3669	10|5	0.46703|.	T|.	0.11|.	-23.1343|-23.1343	15.7397|15.7397	0.77882|0.77882	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	235;261;526;470;500|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	G|A	490;261;460;516;235;500;302|422	ENSP00000339486:D490G;ENSP00000445067:D261G;ENSP00000298324:D460G;ENSP00000337653:D516G;ENSP00000346427:D235G;ENSP00000370031:D500G;ENSP00000351439:D302G|.	ENSP00000337653:D516G|.	D|T	+|+	2|1	0|0	TTC8|TTC8	88413458|88413458	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.973000|0.973000	0.67179|0.67179	8.532000|8.532000	0.90613|0.90613	2.180000|2.180000	0.69256|0.69256	0.383000|0.383000	0.25322|0.25322	GAC|ACA		TCGA-IB-7651-01A-11D-2154-08	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	0	0	0	7	345	0	53	1	4.063924e-01	3	60	0	53	2		0	0	0	0	0	2	1	9.806709e-01	7	344	0	53	2								-3.097419	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.240000	0.100000	0.450000	0.230000	0.260982	0.240000	0	1.600000e-01	3.500000e-01
TDP1	55775	broad.mit.edu	37	14	90485729	90485729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90485729C>T	ENST00000335725.4	+	15	1861	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	TDP1_ENST00000393452.3_Silent_p.Y537Y|TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000393454.2_Silent_p.Y537Y|TDP1_ENST00000555880.1_Silent_p.Y537Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1			25		all_cancers(154;0.185)			TCCGCTCCTACGAGCTCGGGG	0.527000								Repair of DNA-protein crosslinks																0							SO:0001819	synonymous_variant			ENST00000335725.4	1	1	hg19	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844518	0.16963	.	.	ENSG00000042088	ENST00000556063	.	.	.	5.01	-5.69	0.02428	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4071	14.5368	0.67966	0.0:0.1961:0.0:0.8039	.	.	.	.	X	178	.	.	R	+	1	2	TDP1	89555482	0.015000	0.18098	0.891000	0.34965	0.962000	0.63368	-1.226000	0.02953	-1.082000	0.03101	-1.202000	0.01658	CGA		TCGA-IB-7651-01A-11D-2154-08	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	1	0	1	34	162	0	31	1	9.998857e-01	19	51	0	31	2		0	0	0	0	0	2	1	1	34	161	0	31	2								-20.000000	1	1	121412	5	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
KCNK13	56659	broad.mit.edu	37	14	90650476	90650476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650476C>T	ENST00000282146.4	+	2	797	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13			25		all_cancers(154;0.186)			ACAACTCCGGCGACAGTAGGA	0.483000																								0							SO:0001583	missense			ENST00000282146.4	1	1	hg19	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	0.138	-1.105386	0.01828	.	.	ENSG00000152315	ENST00000282146	T	0.21031	2.03	5.31	4.41	0.53225	Ion transport 2 (1);	0.178360	0.27284	N	0.020073	T	0.12518	0.0304	N	0.12443	0.215	0.58432	D	0.999999	B	0.15473	0.013	B	0.15484	0.013	T	0.11155	-1.0599	10	0.23891	T	0.37	.	14.3161	0.66452	0.0:0.9266:0.0:0.0734	.	119	Q9HB14	KCNKD_HUMAN	V	119	ENSP00000282146:A119V	ENSP00000282146:A119V	A	+	2	0	KCNK13	89720229	0.882000	0.30256	0.105000	0.21289	0.026000	0.11368	1.759000	0.38420	2.476000	0.83614	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	1	0	1	103	417	0	97	1	6.705760e-01	7	4	0	97	2		0	0	0	0	0	2	1	1	102	411	0	97	2								-3.421544	1	1	121412	3	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK13	56659	broad.mit.edu	37	14	90650750	90650750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650750C>A	ENST00000282146.4	+	2	1071	c.630C>A	c.(628-630)tgC>tgA	p.C210*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13			25		all_cancers(154;0.186)			TCATCTCTTGCTGCGCCTCAG	0.567000																								0							SO:0001587	stop_gained			ENST00000282146.4	0	1	hg19	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716592	0.96830	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.31	4.41	0.53225	.	0.000000	0.45126	D	0.000387	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.074	0.36511	0.0:0.7791:0.0:0.2209	.	.	.	.	X	210	.	ENSP00000282146:C210X	C	+	3	2	KCNK13	89720503	1.000000	0.71417	0.996000	0.52242	0.326000	0.28443	0.957000	0.29215	2.476000	0.83614	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	1	0	1	146	746	0	164	1	8.608019e-01	12	8	0	164	2		0	0	0	0	0	2	1	1	145	737	0	162	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK13	56659	broad.mit.edu	37	14	90651173	90651173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90651173C>T	ENST00000282146.4	+	2	1494	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13			25		all_cancers(154;0.186)			CCATGAAGGACTTGCTGGCAG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000282146.4	1	1	hg19	CCDS9889.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	1	0	0	72	361	0	69	1	6.180114e-01	5	7	0	69	2		0	0	0	0	0	2	1	1	71	353	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMC1	5700	broad.mit.edu	37	14	90735847	90735847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90735847G>A	ENST00000261303.8	+	9	1091	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1			6		all_cancers(154;0.142)			AGTTATCATGGCCACAAACCG	0.388000																								0							SO:0001583	missense			ENST00000261303.8	1	1	hg19	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717645	0.89205	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94576	-3.46;-3.46	4.92	4.01	0.46588	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.148921	0.64402	D	0.000012	D	0.95658	0.8588	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95992	0.8986	10	0.87932	D	0	-16.7283	14.7381	0.69430	0.0:0.0:0.854:0.146	.	330	P62191	PRS4_HUMAN	T	330;257	ENSP00000261303:A330T;ENSP00000445147:A257T	ENSP00000261303:A330T	A	+	1	0	PSMC1	89805600	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.830000	0.99415	1.166000	0.42689	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	1	0	1	68	492	0	99	1	9.999999e-01	20	153	0	99	2		0	0	0	0	0	2	1	1	68	478	0	105	2								-19.999990	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999930	0.990000	1	9.900000e-01	1
TTC7B	145567	broad.mit.edu	37	14	91044542	91044542	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91044542C>A	ENST00000328459.6	-	19	2339	c.2218G>T	c.(2218-2220)Gct>Tct	p.A740S	TTC7B_ENST00000357056.2_Missense_Mutation_p.A757S|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B			36		Melanoma(154;0.222)			CGGAGCTCAGCAATCTGGCCG	0.602000																								0							SO:0001583	missense			ENST00000328459.6	1	1	hg19	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.383|9.383	1.073633|1.073633	0.20147|0.20147	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972|ENST00000557292	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.48|5.48	3.44|3.44	0.39384|0.39384	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);|.	0.184815|.	0.46758|.	D|.	0.000263|.	T|T	0.68421|0.68421	0.2999|0.2999	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.17268|.	0.021;0.0|.	B;B|.	0.19666|.	0.026;0.004|.	T|T	0.67577|0.67577	-0.5635|-0.5635	10|5	0.22109|.	T|.	0.4|.	-2.2328|-2.2328	12.6405|12.6405	0.56707|0.56707	0.155:0.7368:0.1082:0.0|0.155:0.7368:0.1082:0.0	.|.	740;757|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	S|F	638;757;740;227|167	ENSP00000349564:A757S;ENSP00000336127:A740S;ENSP00000451440:A227S|.	ENSP00000336127:A740S|.	A|C	-|-	1|2	0|0	TTC7B|TTC7B	90114295|90114295	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.177000|0.177000	0.22998|0.22998	4.822000|4.822000	0.62686|0.62686	1.273000|1.273000	0.44346|0.44346	0.655000|0.655000	0.94253|0.94253	GCT|TGC		TCGA-IB-7651-01A-11D-2154-08	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2	1	0	1	33	123	0	30	1	9.992300e-01	7	38	0	30	2		0	0	0	0	0	2	1	1	33	119	0	30	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC7B	145567	broad.mit.edu	37	14	91211192	91211192	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91211192T>G	ENST00000328459.6	-	4	641	c.520A>C	c.(520-522)Acc>Ccc	p.T174P	TTC7B_ENST00000357056.2_Missense_Mutation_p.T174P	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B			36		Melanoma(154;0.222)			TCATAACAGGTGATGACATCC	0.428000																								0							SO:0001583	missense			ENST00000328459.6	1	1	hg19	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493788	0.84962	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.37752	1.86;1.18	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.52573	1.65	0.58432	D	0.999998	P	0.43094	0.799	B	0.36504	0.226	T	0.08411	-1.0723	10	0.29301	T	0.29	-31.152	14.9498	0.71064	0.0:0.0:0.0:1.0	.	174	Q86TV6	TTC7B_HUMAN	P	72;174;174;72	ENSP00000349564:T174P;ENSP00000336127:T174P	ENSP00000336127:T174P	T	-	1	0	TTC7B	90280945	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.850000	0.62889	2.231000	0.72958	0.460000	0.39030	ACC		TCGA-IB-7651-01A-11D-2154-08	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2	1	0	0	22	488	0	111	1	4.480496e-01	2	32	0	111	2		0	0	0	0	0	2	1	9.999986e-01	22	480	0	110	2								-4.500275	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.500000	0.320000	0.730000	0.510000	0.521087	0.500000	0	4.100000e-01	6.200000e-01
RPS6KA5	9252	broad.mit.edu	37	14	91338562	91338562	+	Silent	SNP	C	C	T	rs144832163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91338562C>T	ENST00000261991.3	-	17	2438	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	RPS6KA5_ENST00000536315.2_Silent_p.T676T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5			24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)			AACTGCTGCGCGTCTCGGTAC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000261991.3	0	1	hg19	CCDS9893.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	0	0	0	10	352	0	57	1	8.578226e-02	2	14	0	57	2		0	0	0	0	0	2	1	9.966180e-01	10	344	0	57	2								-3.197765	1	1	121412	13	43	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.330000	0.160000	0.560000	0.310000	0.349132	0.330000	0	2.400000e-01	4.500000e-01
RPS6KA5	9252	broad.mit.edu	37	14	91360773	91360773	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91360773C>A	ENST00000261991.3	-	13	1801	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5			24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)			TTTCAGATCCCTGTGCACCAC	0.438000																								0							SO:0001583	missense			ENST00000261991.3	1	1	hg19	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979109	0.74360	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.66099	-0.19;-0.19;-0.19	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90434	0.4426	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	543;543	O75582-2;O75582	.;KS6A5_HUMAN	M	543;464;543	ENSP00000261991:R543M;ENSP00000442803:R464M;ENSP00000402787:R543M	ENSP00000261991:R543M	R	-	2	0	RPS6KA5	90430526	1.000000	0.71417	0.987000	0.45799	0.533000	0.34776	7.818000	0.86416	2.656000	0.90262	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	1	0	0	22	422	0	78	1	2.570404e-01	2	17	0	78	2		0	0	0	0	0	2	1	9.999985e-01	21	414	0	78	2								-2.577530	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.580000	0.370000	0.830000	0.580000	0.597223	0.580000	0	4.700000e-01	7.100000e-01
RPS6KA5	9252	broad.mit.edu	37	14	91526692	91526692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91526692C>T	ENST00000261991.3	-	1	260	c.87G>A	c.(85-87)aaG>aaA	p.K29K	RPS6KA5_ENST00000536315.2_5'Flank|RPS6KA5_ENST00000418736.2_Silent_p.K29K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5			24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)			GCAGCTCGTGCTTGACAGTGA	0.761000																								0							SO:0001819	synonymous_variant			ENST00000261991.3	0	1	hg19	CCDS9893.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	1	0	0	22	59	0	9	1	6.847790e-01	2	6	0	9	2		0	0	0	0	0	2	1	9.999996e-01	22	58	0	9	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91749816	91749816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91749816C>A	ENST00000389857.6	-	26	4573	c.4487G>T	c.(4486-4488)aGc>aTc	p.S1496I	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			GCGGTCAAGGCTGCCTCTGTG	0.607000																								0							SO:0001583	missense			ENST00000389857.6	0	1	hg19	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823460	0.32237	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.55930	1.95;0.49	5.67	4.77	0.60923	.	0.656995	0.13910	U	0.354299	T	0.58452	0.2123	M	0.64997	1.995	0.32828	D	0.503644	P;P	0.49783	0.716;0.928	B;P	0.46253	0.312;0.509	T	0.70510	-0.4852	10	0.72032	D	0.01	-15.6755	15.2156	0.73264	0.0:0.8605:0.1395:0.0	.	1496;20	Q9P219;Q9P219-2	DAPLE_HUMAN;.	I	1496;20;20	ENSP00000374507:S1496I;ENSP00000330332:S20I	ENSP00000330332:S20I	S	-	2	0	CCDC88C	90819569	1.000000	0.71417	0.768000	0.31515	0.040000	0.13550	2.576000	0.46033	1.377000	0.46286	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	11	116	0	15	1	9.550315e-01	11	48	0	15	2		0	0	0	0	0	2	1	9.982171e-01	11	111	0	15	2								-16.729050	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.550000	1.000000	1.000000	0.910277	0.990000	1	7.500000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91755667	91755667	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91755667G>T	ENST00000389857.6	-	25	4309	c.4223C>A	c.(4222-4224)gCc>gAc	p.A1408D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			TAAGGCTTTGGCTCCAATCCA	0.537000																								0							SO:0001583	missense			ENST00000389857.6	1	1	hg19	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751333	0.89753	.	.	ENSG00000015133	ENST00000389857	T	0.62105	0.05	5.38	5.38	0.77491	.	0.310015	0.22674	U	0.057025	T	0.79281	0.4419	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80259	-0.1457	10	0.59425	D	0.04	-32.1102	19.1411	0.93446	0.0:0.0:1.0:0.0	.	1408	Q9P219	DAPLE_HUMAN	D	1408	ENSP00000374507:A1408D	ENSP00000374507:A1408D	A	-	2	0	CCDC88C	90825420	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.445000	0.90326	2.507000	0.84556	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	198	965	0	221	1	9.566108e-01	10	17	0	221	2		0	0	0	0	0	2	1	1	195	947	0	220	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91763825	91763825	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91763825G>T	ENST00000389857.6	-	22	3876	c.3790C>A	c.(3790-3792)Ctg>Atg	p.L1264M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			TGGTGGTGCAGGAAATTGACC	0.587000																								0							SO:0001583	missense			ENST00000389857.6	0	1	hg19	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426943	0.43122	.	.	ENSG00000015133	ENST00000389857	T	0.15139	2.45	5.34	5.34	0.76211	.	0.234286	0.22159	U	0.063819	T	0.16727	0.0402	L	0.48362	1.52	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.01541	-1.1329	10	0.49607	T	0.09	-18.6969	10.2314	0.43258	0.1216:0.0:0.8784:0.0	.	1264	Q9P219	DAPLE_HUMAN	M	1264	ENSP00000374507:L1264M	ENSP00000374507:L1264M	L	-	1	2	CCDC88C	90833578	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.864000	0.39469	2.513000	0.84729	0.609000	0.83330	CTG		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	0	0	1	7	18	0	11	1	9.934011e-01	8	22	0	11	2		0	0	0	0	0	2	1	9.861351e-01	7	18	0	11	2								-16.816470	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997085	0.990000	1	9.900000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91766410	91766410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91766410C>T	ENST00000389857.6	-	21	3726	c.3640G>A	c.(3640-3642)Ggt>Agt	p.G1214S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			AGCATGTCACCGTGCCTGTTG	0.617000																								0							SO:0001583	missense			ENST00000389857.6	0	1	hg19	CCDS45151.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.112	0.388845	0.11581	0.0	0.0013	ENSG00000015133	ENST00000389857	T	0.12984	2.63	5.24	-4.35	0.03656	.	1.052770	0.07579	N	0.919860	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40117	-0.9580	10	0.36615	T	0.2	-1.4689	13.216	0.59861	0.0:0.2191:0.0:0.7809	.	1214	Q9P219	DAPLE_HUMAN	S	1214	ENSP00000374507:G1214S	ENSP00000374507:G1214S	G	-	1	0	CCDC88C	90836163	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.734000	0.04843	-1.058000	0.02302	GGT		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	8	59	0	14	1	8.395522e-01	10	17	0	14	2		0	0	0	0	0	2	1	9.889614e-01	8	56	0	14	2								-3.978256	1	1	120982	128	46	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.660000	1.000000	1.000000	0.968433	0.990000	1	9.600000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91770280	91770280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91770280C>T	ENST00000389857.6	-	20	3486	c.3400G>A	c.(3400-3402)Gcg>Acg	p.A1134T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			GTGTACTGCGCGGTGAGCGCT	0.662000																								0							SO:0001583	missense			ENST00000389857.6	1	1	hg19	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307042	0.60305	.	.	ENSG00000015133	ENST00000389857	T	0.17054	2.3	5.52	3.69	0.42338	.	0.000000	0.48286	U	0.000192	T	0.22513	0.0543	L	0.46741	1.465	0.80722	D	1	D	0.61080	0.989	P	0.53518	0.728	T	0.01276	-1.1398	10	0.33141	T	0.24	-12.7778	8.6863	0.34240	0.2697:0.6613:0.0:0.069	.	1134	Q9P219	DAPLE_HUMAN	T	1134	ENSP00000374507:A1134T	ENSP00000374507:A1134T	A	-	1	0	CCDC88C	90840033	0.964000	0.33143	0.018000	0.16275	0.073000	0.16967	2.267000	0.43329	0.795000	0.33922	-0.258000	0.10820	GCG		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	67	376	0	70	1	9.567129e-01	7	24	0	70	2		0	0	0	0	0	2	1	1	67	371	0	68	2								-20.000000	1	1	121118	2	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91774720	91774720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91774720C>T	ENST00000389857.6	-	17	3067	c.2981G>A	c.(2980-2982)cGc>cAc	p.R994H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			CTCTAACTGGCGATTTAGGCT	0.493000																								0							SO:0001583	missense			ENST00000389857.6	1	1	hg19	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	3.184	-0.167316	0.06461	.	.	ENSG00000015133	ENST00000389857	T	0.14516	2.5	4.53	-1.03	0.10102	.	0.422486	0.19662	N	0.108941	T	0.03095	0.0091	N	0.00801	-1.175	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42361	-0.9456	10	0.33141	T	0.24	-5.3296	4.6717	0.12692	0.1297:0.2315:0.0:0.6388	.	994	Q9P219	DAPLE_HUMAN	H	994	ENSP00000374507:R994H	ENSP00000374507:R994H	R	-	2	0	CCDC88C	90844473	0.997000	0.39634	0.001000	0.08648	0.044000	0.14063	1.276000	0.33156	-0.503000	0.06586	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	44	238	0	47	1	9.491561e-01	13	15	0	47	2		0	0	0	0	0	2	1	1	43	233	0	47	2								-19.996550	1	1	121026	1	27	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91780320	91780320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91780320G>A	ENST00000389857.6	-	15	1926	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			TGCAGCTGCCGCTTCTCAAAC	0.612000																								0							SO:0001583	missense			ENST00000389857.6	1	1	hg19	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659039	0.67586	.	.	ENSG00000015133	ENST00000389857	T	0.31510	1.49	5.46	0.828	0.18841	.	0.630024	0.13382	U	0.392022	T	0.34337	0.0894	L	0.42245	1.32	0.80722	D	1	D	0.65815	0.995	P	0.48571	0.582	T	0.39901	-0.9591	10	0.87932	D	0	-10.4006	14.9305	0.70911	0.0:0.0:0.2364:0.7636	.	614	Q9P219	DAPLE_HUMAN	W	614	ENSP00000374507:R614W	ENSP00000374507:R614W	R	-	1	2	CCDC88C	90850073	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.998000	0.40796	0.224000	0.20940	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	51	182	0	43	1	9.980726e-01	12	25	0	43	2		0	0	0	0	0	2	1	1	48	174	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91804434	91804434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91804434G>A	ENST00000389857.6	-	10	1051	c.965C>T	c.(964-966)gCg>gTg	p.A322V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			CACGCGGTTCGCCTTCTCCCG	0.622000																								0							SO:0001583	missense			ENST00000389857.6	1	1	hg19	CCDS45151.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.631770	0.96682	.	.	ENSG00000015133	ENST00000389857	T	0.18502	2.21	5.54	5.54	0.83059	.	0.000000	0.48286	U	0.000193	T	0.40272	0.1110	M	0.75447	2.3	0.80722	D	1	D	0.56746	0.977	P	0.56960	0.81	T	0.25537	-1.0129	10	0.87932	D	0	-26.7377	19.4767	0.94992	0.0:0.0:1.0:0.0	.	322	Q9P219	DAPLE_HUMAN	V	322	ENSP00000374507:A322V	ENSP00000374507:A322V	A	-	2	0	CCDC88C	90874187	1.000000	0.71417	0.972000	0.41901	0.971000	0.66376	7.991000	0.88244	2.623000	0.88846	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	52	225	0	44	1	9.515962e-01	5	19	0	44	2		0	0	0	0	0	2	1	1	52	216	0	41	2								-3.489699	1	1	121100	4	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC88C	440193	broad.mit.edu	37	14	91805638	91805638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91805638G>A	ENST00000389857.6	-	8	879	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			TGCCTGACGCGCCGCAGCCTG	0.627000																								0							SO:0001583	missense			ENST00000389857.6	1	1	hg19	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583325	0.65992	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	T	0.46063	0.88	5.25	3.21	0.36854	.	0.000000	0.47455	U	0.000234	T	0.59838	0.2223	M	0.83012	2.62	0.80722	D	1	D	0.67145	0.996	D	0.63793	0.918	T	0.63010	-0.6732	10	0.87932	D	0	-13.8149	7.375	0.26823	0.0:0.1158:0.4603:0.4238	.	265	Q9P219	DAPLE_HUMAN	C	265;229	ENSP00000374507:R265C	ENSP00000374507:R265C	R	-	1	0	CCDC88C	90875391	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.344000	0.44010	1.185000	0.42971	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	1	0	1	37	124	0	30	1	9.868719e-01	6	20	0	30	2		0	0	0	0	0	2	1	1	36	121	0	30	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMEK1	55671	broad.mit.edu	37	14	91929101	91929101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91929101G>A	ENST00000554943.1	-	12	2066	c.1951C>T	c.(1951-1953)Caa>Taa	p.Q651*	SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000554684.1_Nonsense_Mutation_p.Q638*			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)			6		all_cancers(154;0.0691)|all_epithelial(191;0.219)			GGATTATCTTGCCTTTCTCTT	0.313000																								0							SO:0001587	stop_gained			ENST00000554943.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	43	10.496534	0.99416	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.4584	19.3709	0.94484	0.0:0.0:1.0:0.0	.	.	.	.	X	638;638;412;651;412;638	.	ENSP00000337125:Q638X	Q	-	1	0	SMEK1	90998854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.756000	0.98918	2.576000	0.86940	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	1	0	0	33	366	0	93	0	9.999872e-01	0	192	0	93	2		0	0	0	0	0	2	1	1	33	362	0	93	2								-10.046160	1	1	121404	1	24	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.960000	0.680000	1.000000	1.000000	0.925669	0.960000	1	8.100000e-01	1
SMEK1	55671	broad.mit.edu	37	14	91937229	91937229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91937229G>A	ENST00000554943.1	-	10	1727	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W|SMEK1_ENST00000554684.1_Missense_Mutation_p.R525W			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)			6		all_cancers(154;0.0691)|all_epithelial(191;0.219)			AGCACTCTCCGGAGGATATCC	0.358000																								0							SO:0001583	missense			ENST00000554943.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.9	4.582799	0.86748	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.988;0.982;0.994	T	0.77408	-0.2599	10	0.72032	D	0.01	-7.1543	19.3334	0.94303	0.0:0.0:1.0:0.0	.	299;538;525	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	W	525;525;299;538;299;525	ENSP00000450864:R525W;ENSP00000337125:R525W;ENSP00000392704:R299W;ENSP00000450883:R538W;ENSP00000450891:R299W;ENSP00000452596:R525W	ENSP00000337125:R525W	R	-	1	2	SMEK1	91006982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.290000	0.65661	2.567000	0.86603	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	1	0	1	70	325	0	57	1	1	48	154	0	57	2		0	0	0	0	0	2	1	1	69	317	0	55	2								-2.466117	0	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CATSPERB	79820	broad.mit.edu	37	14	92159477	92159477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92159477C>A	ENST00000256343.3	-	9	980	c.824G>T	c.(823-825)aGc>aTc	p.S275I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta			54		all_cancers(154;0.0663)|all_epithelial(191;0.236)			TACCGATAAGCTGTGGCGTGA	0.333000																								0							SO:0001583	missense			ENST00000256343.3	1	1	hg19	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	5.588	0.293217	0.10567	.	.	ENSG00000133962	ENST00000256343	T	0.44881	0.91	5.08	-10.1	0.00402	.	6.205340	0.00496	N	0.000145	T	0.11707	0.0285	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17018	-1.0383	10	0.26408	T	0.33	15.6753	2.4325	0.04475	0.232:0.0968:0.1437:0.5274	.	275	Q9H7T0	CTSRB_HUMAN	I	275	ENSP00000256343:S275I	ENSP00000256343:S275I	S	-	2	0	CATSPERB	91229230	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.323000	0.01117	-1.723000	0.01375	-1.251000	0.01509	AGC		TCGA-IB-7651-01A-11D-2154-08	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	1	0	1	54	323	0	86	1	2.692052e-01	2	5	0	86	2		0	0	0	0	0	2	1	1	52	319	0	86	2								-19.999980	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TC2N	123036	broad.mit.edu	37	14	92280104	92280104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92280104C>T	ENST00000435962.2	-	2	333	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	TC2N_ENST00000360594.5_Missense_Mutation_p.E4K|TC2N_ENST00000340892.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear			18					TTTATAAATTCTGTTGCCATT	0.323000																								0							SO:0001583	missense			ENST00000435962.2	1	1	hg19	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102708	0.94245	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.20598	3.03;3.03;3.03;2.06	6.17	6.17	0.99709	.	0.105362	0.64402	D	0.000007	T	0.32164	0.0820	M	0.64997	1.995	0.53688	D	0.999979	P;B	0.43231	0.801;0.297	B;B	0.42361	0.385;0.172	T	0.02632	-1.1131	10	0.87932	D	0	-19.9146	20.8794	0.99867	0.0:1.0:0.0:0.0	.	4;4	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	K	4	ENSP00000387882:E4K;ENSP00000343199:E4K;ENSP00000353802:E4K;ENSP00000451317:E4K	ENSP00000343199:E4K	E	-	1	0	TC2N	91349857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.941000	0.99782	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	1	0	1	11	90	0	32	1	9.975845e-01	37	54	0	32	2		0	0	0	0	0	2	1	9.981986e-01	9	87	0	32	2								-17.548270	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.680000	1.000000	1.000000	0.968286	0.990000	1	9.400000e-01	1
FBLN5	10516	broad.mit.edu	37	14	92347762	92347762	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92347762T>G	ENST00000342058.4	-	9	1456	c.863A>C	c.(862-864)gAc>gCc	p.D288A	FBLN5_ENST00000267620.10_Splice_Site_p.D329A|FBLN5_ENST00000556154.1_Splice_Site_p.D293A	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5			28		all_cancers(154;0.0722)			TTCGTTGATGTCTGAAATGCA	0.542000																								0							SO:0001630	splice_region_variant			ENST00000342058.4	1	0	hg19	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834356	0.91036	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.99060	-5.38;-5.38;-5.38	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.996	D	0.99164	1.0862	10	0.87932	D	0	.	15.9091	0.79456	0.0:0.0:0.0:1.0	.	329;293;288	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	A	329;288;293	ENSP00000267620:D329A;ENSP00000345008:D288A;ENSP00000451982:D293A	ENSP00000267620:D385A	D	-	2	0	FBLN5	91417515	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.209000	0.71365	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1	1	0	1	65	279	0	80	0	1	0	245	0	80	2		0	0	0	0	0	2	1	1	62	265	0	80	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	G	A	rs148209555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92353550G>A	ENST00000342058.4	-	7	1319	c.726C>T	c.(724-726)ggC>ggT	p.G242G	FBLN5_ENST00000267620.10_Silent_p.G283G|FBLN5_ENST00000556154.1_Silent_p.G247G	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	p.G242G(1)		28		all_cancers(154;0.0722)			TGCAATGAACGCCATCTTCCT	0.547000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000342058.4	1	1	hg19	CCDS9898.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1	1	0	1	132	679	0	184	0	1	1	269	0	184	2		0	0	0	0	0	2	1	1	129	667	0	183	2								-20.000000	1	0	121412	1	39	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIP11	9321	broad.mit.edu	37	14	92465608	92465608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92465608G>A	ENST00000267622.4	-	13	5241	c.4868C>T	c.(4867-4869)tCc>tTc	p.S1623F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11			58					TGCATTAGAGGATGAAACTAG	0.328000			T	PDGFRB	AML								Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0							SO:0001583	missense			ENST00000267622.4	1	1	hg19	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318692	0.81469	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.06528	3.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02450	-1.1157	10	0.87932	D	0	.	19.1395	0.93443	0.0:0.0:1.0:0.0	.	1359;1623	F5H1Z0;Q15643	.;TRIPB_HUMAN	F	1623;1359	ENSP00000267622:S1623F	ENSP00000267622:S1623F	S	-	2	0	TRIP11	91535361	1.000000	0.71417	0.990000	0.47175	0.886000	0.51366	8.971000	0.93419	2.538000	0.85594	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	1	0	1	41	213	0	53	1	9.995268e-01	12	51	0	53	2		0	0	0	0	0	2	1	1	41	213	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TRIP11	9321	broad.mit.edu	37	14	92470112	92470112	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92470112T>C	ENST00000267622.4	-	11	4581	c.4208A>G	c.(4207-4209)gAt>gGt	p.D1403G		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11			58					TTGCAAAACATCTTGTTTCTC	0.353000			T	PDGFRB	AML								Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0							SO:0001583	missense			ENST00000267622.4	1	1	hg19	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955509	0.53293	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05580	3.42	5.36	4.21	0.49690	.	0.442134	0.25135	N	0.032875	T	0.10294	0.0252	L	0.47716	1.5	0.39889	D	0.973749	B;P	0.48503	0.015;0.911	B;P	0.47705	0.015;0.555	T	0.04255	-1.0965	10	0.59425	D	0.04	.	10.9328	0.47228	0.0:0.0738:0.0:0.9262	.	1139;1403	F5H1Z0;Q15643	.;TRIPB_HUMAN	G	1403;1139	ENSP00000267622:D1403G	ENSP00000267622:D1403G	D	-	2	0	TRIP11	91539865	1.000000	0.71417	0.007000	0.13788	0.455000	0.32408	4.849000	0.62882	0.875000	0.35847	0.379000	0.24179	GAT		TCGA-IB-7651-01A-11D-2154-08	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	1	0	1	82	358	0	72	1	9.999996e-01	27	67	0	72	2		0	0	0	0	0	2	1	1	80	350	0	72	2								-20.000000	1	1	121406	1	32	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPSF2	53981	broad.mit.edu	37	14	92608558	92608558	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92608558G>A	ENST00000298875.4	+	8	997	c.712G>A	c.(712-714)Gac>Aac	p.D238N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa			24		all_cancers(154;0.0766)			AATAGCAGTGGACACAGCAGG	0.398000													Ovarian(78;28 1788 18702 44111)											0							SO:0001583	missense			ENST00000298875.4	1	1	hg19	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566748	0.96540	.	.	ENSG00000165934	ENST00000298875	T	0.52295	0.67	5.5	5.5	0.81552	.	0.045879	0.85682	D	0.000000	T	0.77212	0.4097	M	0.93763	3.455	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.81466	-0.0920	10	0.46703	T	0.11	.	19.4	0.94625	0.0:0.0:1.0:0.0	.	238	Q9P2I0	CPSF2_HUMAN	N	238	ENSP00000298875:D238N	ENSP00000298875:D238N	D	+	1	0	CPSF2	91678311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.746000	0.98859	2.575000	0.86900	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1	0	0	1	142	627	1	162	1	9.999997e-01	33	99	1	162	5		0	0	0	0	0	2	1	1	139	613	1	162	17								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPSF2	53981	broad.mit.edu	37	14	92609433	92609433	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92609433A>G	ENST00000298875.4	+	9	1220	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa			24		all_cancers(154;0.0766)			TCTTTATGTCATGGTCTTTCT	0.428000													Ovarian(78;28 1788 18702 44111)											0							SO:0001583	missense			ENST00000298875.4	1	1	hg19	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377984	0.82682	.	.	ENSG00000165934	ENST00000298875	T	0.42900	0.96	4.99	4.99	0.66335	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58864	-0.7561	10	0.29301	T	0.29	.	15.0003	0.71466	1.0:0.0:0.0:0.0	.	312	Q9P2I0	CPSF2_HUMAN	R	312	ENSP00000298875:H312R	ENSP00000298875:H312R	H	+	2	0	CPSF2	91679186	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.172000	0.94808	1.996000	0.58369	0.402000	0.26972	CAT		TCGA-IB-7651-01A-11D-2154-08	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1	1	0	1	25	276	0	76	1	9.994316e-01	19	112	0	76	2		0	0	0	0	0	2	1	9.999998e-01	24	269	0	75	2								-8.708482	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.970000	0.650000	1.000000	1.000000	0.920401	0.970000	1	7.900000e-01	1
CPSF2	53981	broad.mit.edu	37	14	92620736	92620736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92620736T>C	ENST00000298875.4	+	10	1460	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa			24		all_cancers(154;0.0766)			GGGAAAGAACTTGAAGAATAC	0.328000													Ovarian(78;28 1788 18702 44111)											0							SO:0001583	missense			ENST00000298875.4	1	1	hg19	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476771	0.84640	.	.	ENSG00000165934	ENST00000298875	T	0.57907	0.37	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79914	-0.1602	10	0.66056	D	0.02	.	16.0967	0.81129	0.0:0.0:0.0:1.0	.	392	Q9P2I0	CPSF2_HUMAN	P	392	ENSP00000298875:L392P	ENSP00000298875:L392P	L	+	2	0	CPSF2	91690489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.189000	0.77747	2.263000	0.75096	0.379000	0.24179	CTT		TCGA-IB-7651-01A-11D-2154-08	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1	1	0	1	32	86	0	41	1	1	59	124	0	41	2		0	0	0	0	0	2	1	1	31	84	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC24A4	123041	broad.mit.edu	37	14	92790300	92790300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92790300C>A	ENST00000532405.1	+	1	352	c.126C>A	c.(124-126)agC>agA	p.S42R	SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4			36		all_cancers(154;0.0347)|all_epithelial(191;0.163)			TCTTCGGCAGCTTGGGTGGGT	0.657000													NSCLC(10;315 435 10383 28450 38798)											0							SO:0001583	missense			ENST00000532405.1	1	1	hg19	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340847	0.24339	.	.	ENSG00000140090	ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T	0.68181	0.11;0.11;-0.31;-0.31	4.09	2.23	0.28157	.	0.294941	0.36932	N	0.002328	T	0.35799	0.0944	N	0.08118	0	0.22926	N	0.998557	B;B	0.33583	0.418;0.399	B;B	0.30943	0.122;0.065	T	0.17258	-1.0375	10	0.15499	T	0.54	.	4.3481	0.11143	0.0:0.6001:0.1879:0.212	.	42;42	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	R	42;42;25;25	ENSP00000433302:S42R;ENSP00000431840:S42R;ENSP00000298877:S25R;ENSP00000337789:S25R	ENSP00000298877:S25R	S	+	3	2	SLC24A4	91860053	0.999000	0.42202	0.941000	0.38009	0.669000	0.39330	0.380000	0.20602	0.378000	0.24764	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	1	0	0	23	117	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.999995e-01	22	113	0	24	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999848	0.990000	1	9.900000e-01	1
SLC24A4	123041	broad.mit.edu	37	14	92909751	92909751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92909751G>A	ENST00000532405.1	+	7	816	c.590G>A	c.(589-591)cGt>cAt	p.R197H	SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4			36		all_cancers(154;0.0347)|all_epithelial(191;0.163)			CAGGTGGTCCGTCTGACGTGG	0.657000													NSCLC(10;315 435 10383 28450 38798)											0							SO:0001583	missense			ENST00000532405.1	1	1	hg19	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	6.791	0.514922	0.12944	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.89	1.46	0.22682	Sodium/calcium exchanger membrane region (1);	0.573016	0.19313	N	0.117344	T	0.38214	0.1032	N	0.12611	0.24	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.002;0.002;0.005	T	0.18681	-1.0329	10	0.28530	T	0.3	.	7.6125	0.28139	0.175:0.1392:0.6858:0.0	.	197;133;197	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	H	133;197;197;180;180	ENSP00000376948:R133H;ENSP00000433302:R197H;ENSP00000431840:R197H;ENSP00000298877:R180H;ENSP00000337789:R180H	ENSP00000298877:R180H	R	+	2	0	SLC24A4	91979504	0.837000	0.29446	0.110000	0.21437	0.929000	0.56500	1.395000	0.34520	0.459000	0.27016	0.462000	0.41574	CGT		TCGA-IB-7651-01A-11D-2154-08	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	1	0	1	48	205	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	48	200	0	43	2								-3.163374	1	1	121412	3	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIN3	79890	broad.mit.edu	37	14	93118417	93118417	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93118417C>T	ENST00000216487.7	+	6	1182	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3			36		all_cancers(154;0.0701)			TGATGACCTGCGAGAGACTCC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000216487.7	1	1	hg19	CCDS32144.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1	0	0	0	41	242	1	60	1	9.233419e-01	11	47	1	60	5		0	0	0	0	0	2	1	9.998357e-01	40	238	1	60	16								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
RIN3	79890	broad.mit.edu	37	14	93119069	93119069	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93119069C>A	ENST00000216487.7	+	6	1834	c.1675C>A	c.(1675-1677)Ctg>Atg	p.L559M	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3			36		all_cancers(154;0.0701)			GGAGGAGGAGCTGGAGCAGTT	0.612000																								0							SO:0001583	missense			ENST00000216487.7	1	1	hg19	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.48|12.48	1.949714|1.949714	0.34377|0.34377	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	.|T	.|0.06371	.|3.31	4.58|4.58	3.62|3.62	0.41486|0.41486	.|.	.|0.882755	.|0.09617	.|N	.|0.778156	T|T	0.18635|0.18635	0.0447|0.0447	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.71674	.|0.998;0.971;0.94;0.997	.|D;P;P;P	.|0.67548	.|0.952;0.751;0.641;0.85	T|T	0.06570|0.06570	-1.0819|-1.0819	5|10	.|0.19147	.|T	.|0.46	-4.07|-4.07	14.0183|14.0183	0.64539|0.64539	0.0:0.848:0.152:0.0|0.0:0.848:0.152:0.0	.|.	.|559;605;484;559	.|Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.|.;.;.;RIN3_HUMAN	D|M	75|559;483	.|ENSP00000216487:L559M	.|ENSP00000216487:L559M	A|L	+|+	2|1	0|2	RIN3|RIN3	92188822|92188822	0.001000|0.001000	0.12720|0.12720	0.994000|0.994000	0.49952|0.49952	0.627000|0.627000	0.37826|0.37826	0.056000|0.056000	0.14256|0.14256	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1	0	0	0	31	297	0	69	1	9.993661e-01	8	102	0	69	2		0	0	0	0	0	2	1	1	31	294	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.770000	1.000000	1.000000	0.972209	0.990000	1	9.200000e-01	1
GOLGA5	9950	broad.mit.edu	37	14	93282689	93282689	+	Missense_Mutation	SNP	C	C	T	rs34964124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93282689C>T	ENST00000163416.2	+	7	1670	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R472W	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5			9		all_cancers(154;0.0934)			GGAAGAACTTCGGCATGAGAA	0.443000			T	RET	papillary thyroid										Dom	yes		14	14q	9950	golgi autoantigen, golgin subfamily a, 5  (PTC5)		E	0							SO:0001583	missense			ENST00000163416.2	1	1	hg19	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870146	0.72065	2.27E-4	0.0	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.51574	0.7;0.7	5.35	5.35	0.76521	.	0.000000	0.43747	D	0.000537	T	0.66426	0.2788	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.69978	-0.4998	10	0.87932	D	0	-24.7581	12.2417	0.54546	0.2881:0.7119:0.0:0.0	rs34964124	472	Q8TBA6	GOGA5_HUMAN	W	472;472;381	ENSP00000163416:R472W;ENSP00000348252:R472W	ENSP00000163416:R472W	R	+	1	2	GOLGA5	92352442	1.000000	0.71417	0.999000	0.59377	0.835000	0.47333	2.571000	0.45990	2.490000	0.84030	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1	0	0	0	18	532	0	139	1	9.996799e-01	15	373	0	139	2		0	0	0	0	0	2	1	9.999798e-01	18	524	0	138	2								-2.859215	1	1	121412	4	38	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.380000	0.230000	0.580000	0.390000	0.399560	0.380000	0	3.000000e-01	4.900000e-01
CHGA	1113	broad.mit.edu	37	14	93390551	93390551	+	Silent	SNP	G	G	A	rs9658640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93390551G>A	ENST00000216492.5	+	2	334	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CHGA_ENST00000334654.4_Silent_p.A18A|CHGA_ENST00000553866.1_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)			8		all_cancers(154;0.0843)			CAGTCACTGCGCTCCCTGTGA	0.582000													Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)											0							SO:0001819	synonymous_variant			ENST00000216492.5	1	1	hg19	CCDS9906.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	1	0	1	20	86	0	23	0	9.999970e-01	0	103	0	23	2		0	0	0	0	0	2	1	9.999978e-01	20	86	0	23	2								-20.000000	1	1	121388	1	33	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999909	0.990000	1	9.900000e-01	1
CHGA	1113	broad.mit.edu	37	14	93399081	93399081	+	Missense_Mutation	SNP	G	G	A	rs9658669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93399081G>A	ENST00000216492.5	+	7	1455	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	CHGA_ENST00000334654.4_Missense_Mutation_p.R241Q	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)			8		all_cancers(154;0.0843)			CAGCTGCGACGAGGCTGGAGG	0.697000													Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)											0							SO:0001583	missense			ENST00000216492.5	1	1	hg19	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930877	0.18131	2.28E-4	2.34E-4	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.02197	4.4;4.4	4.71	2.86	0.33363	.	0.400442	0.21601	N	0.071941	T	0.02119	0.0066	L	0.48642	1.525	0.09310	N	1	P;B	0.39352	0.669;0.419	B;B	0.29440	0.053;0.102	T	0.48681	-0.9014	10	0.32370	T	0.25	-1.3963	8.8796	0.35367	0.3464:0.0:0.6536:0.0	rs9658669	241;392	G5E968;P10645	.;CMGA_HUMAN	Q	392;241	ENSP00000216492:R392Q;ENSP00000334023:R241Q	ENSP00000216492:R392Q	R	+	2	0	CHGA	92468834	0.991000	0.36638	0.139000	0.22197	0.339000	0.28857	3.094000	0.50227	0.092000	0.17331	-1.164000	0.01763	CGA		TCGA-IB-7651-01A-11D-2154-08	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	1	0	0	22	73	0	20	0	1	0	216	0	20	2		0	0	0	0	0	2	1	9.999995e-01	22	71	0	20	2								-20.000000	1	1	120972	8	35	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
UBR7	55148	broad.mit.edu	37	14	93678410	93678410	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93678410C>T	ENST00000013070.6	+	4	614	c.378C>T	c.(376-378)taC>taT	p.Y126Y	RP11-371E8.4_ENST00000557574.1_Silent_p.Y145Y|UBR7_ENST00000416753.1_Silent_p.Y50Y|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)			19					GCAATAAGTACAATGACAACT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000013070.6	0	1	hg19	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.006|9.006	0.981241|0.981241	0.18812|0.18812	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000555113|ENST00000553857	.|.	.|.	.|.	5.89|5.89	1.59|1.59	0.23543|0.23543	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58264	.|0.2110	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52366	.|-0.8585	.|4	.|.	.|.	.|.	-0.6792|-0.6792	9.7459|9.7459	0.40446|0.40446	0.0:0.5626:0.0:0.4374|0.0:0.5626:0.0:0.4374	.|.	.|.	.|.	.|.	X|I	117|52	.|.	.|.	Q|T	+|+	1|2	0|0	UBR7|UBR7	92748163|92748163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.018000|1.018000	0.30002|0.30002	0.414000|0.414000	0.25790|0.25790	0.591000|0.591000	0.81541|0.81541	CAA|ACA		TCGA-IB-7651-01A-11D-2154-08	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	1	0	1	16	110	0	21	1	9.973308e-01	15	56	0	21	2		0	0	0	0	0	2	1	9.999433e-01	16	107	0	21	2								-19.999990	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.880000	1.000000	1.000000	0.993474	0.990000	1	9.900000e-01	1
BTBD7	55727	broad.mit.edu	37	14	93712552	93712552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93712552G>A	ENST00000334746.5	-	10	2509	c.2202C>T	c.(2200-2202)cgC>cgT	p.R734R	BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7			35		all_cancers(154;0.08)			TACTGTTTACGCGACATCTCC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000334746.5	1	1	hg19	CCDS32146.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	1	0	1	101	627	0	125	1	9.705758e-01	8	29	0	125	2		0	0	0	0	0	2	1	1	98	581	0	122	2								-20.000000	1	1	121412	2	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTBD7	55727	broad.mit.edu	37	14	93730244	93730244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93730244G>A	ENST00000334746.5	-	4	1565	c.1258C>T	c.(1258-1260)Cga>Tga	p.R420*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R69*|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7			35		all_cancers(154;0.08)			AAAGCTTGTCGGTGCACCCAT	0.428000																								0							SO:0001587	stop_gained			ENST00000334746.5	0	1	hg19	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	39	7.793190	0.98492	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	.	.	.	4.99	2.87	0.33458	.	0.055019	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.747	0.57287	0.0:0.1175:0.7463:0.1362	.	.	.	.	X	420;69	.	ENSP00000335615:R420X	R	-	1	2	BTBD7	92799997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.319000	0.59197	1.100000	0.41517	0.558000	0.71614	CGA		TCGA-IB-7651-01A-11D-2154-08	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	0	0	0	17	406	0	104	1	6.038259e-01	3	46	0	104	2		0	0	0	0	0	2	1	9.999578e-01	16	396	0	104	2								-2.417913	0	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.470000	0.280000	0.710000	0.460000	0.490288	0.470000	0	3.700000e-01	6.000000e-01
COX8C	341947	broad.mit.edu	37	14	93814406	93814406	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93814406G>A	ENST00000342144.2	+	2	237	c.159G>A	c.(157-159)acG>acA	p.T53T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	p.T53T(1)		5		all_cancers(154;0.083)			TGTTTTTTACGACCTTCTTAA	0.453000													GBM(134;630 1800 8342 13106 15419)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000342144.2	1	1	hg19	CCDS9910.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412769.1	1	0	1	60	250	0	62	0	1.739930e-01	1	3	0	62	2		0	0	0	0	0	2	1	1	60	245	0	62	2								-3.547953	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRIMA1	145270	broad.mit.edu	37	14	94187802	94187802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94187802G>A	ENST00000393140.1	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N150N	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1			7		all_cancers(154;0.127)			ACACCACTGCGTTGTTCACGT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000393140.1	1	1	hg19	CCDS9912.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	1	0	1	48	171	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	47	168	0	27	2								-20.000000	1	1	121412	4	34	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM181A	90050	broad.mit.edu	37	14	94395237	94395237	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94395237C>A	ENST00000267594.5	+	3	1099	c.792C>A	c.(790-792)gtC>gtA	p.V264V	FAM181A_ENST00000557000.2_Silent_p.V202V|FAM181A_ENST00000557719.1_Silent_p.V202V|FAM181A_ENST00000556222.1_Silent_p.V202V|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A			18					TGCCTGGGGTCTCCTTGGTGG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000267594.5	0	1	hg19	CCDS9914.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	1	0	0	20	190	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999954e-01	19	186	0	23	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.710000	1.000000	1.000000	0.961738	0.990000	1	8.900000e-01	1
ASB2	51676	broad.mit.edu	37	14	94417504	94417504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417504C>T	ENST00000315988.4	-	4	1065	c.577G>A	c.(577-579)Gct>Act	p.A193T	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.A241T|MIR4506_ENST00000584693.1_RNA	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2			27		all_cancers(154;0.13)			TCGTGCAGAGCGGTCCAGCCG	0.622000																								0							SO:0001583	missense			ENST00000315988.4	1	1	hg19	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203926	0.79127	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.42	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.052587	0.85682	D	0.000000	D	0.83408	0.5248	M	0.62154	1.92	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.84003	0.0344	10	0.66056	D	0.02	-21.6007	19.6758	0.95932	0.0:1.0:0.0:0.0	.	209;241;193	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	T	241;209;193;139;139;87	ENSP00000451575:A241T;ENSP00000320675:A193T;ENSP00000450940:A139T;ENSP00000451694:A87T	ENSP00000320675:A193T	A	-	1	0	ASB2	93487257	0.998000	0.40836	0.195000	0.23364	0.494000	0.33585	3.876000	0.56115	2.644000	0.89710	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1	1	0	1	45	373	0	72	0	1.741461e-01	0	7	0	72	2		0	0	0	0	0	2	1	9.997502e-01	45	366	1	70	19								-20.000000	1	0	121406	1	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.930000	1.000000	1.000000	0.996462	0.990000	1	9.900000e-01	1
ASB2	51676	broad.mit.edu	37	14	94419708	94419708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94419708C>T	ENST00000315988.4	-	3	968	c.480G>A	c.(478-480)ccG>ccA	p.P160P	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.P208P	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2			27		all_cancers(154;0.13)			CTTTGTAGAGCGGTGTCTCTC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000315988.4	1	1	hg19	CCDS9915.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1	1	0	1	120	636	0	135	0	4.329679e-01	0	9	0	135	2		0	0	0	0	0	2	1	1	113	625	0	134	2								-20.000000	1	1	121410	1	37	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX24	57062	broad.mit.edu	37	14	94526811	94526811	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94526811C>A	ENST00000330836.5	-	5	1677	c.1546G>T	c.(1546-1548)Gct>Tct	p.A516S	DDX24_ENST00000544005.1_Missense_Mutation_p.A266S|DDX24_ENST00000555054.1_Missense_Mutation_p.A473S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24			23		all_cancers(154;0.12)			CGAGCAGGAGCCTGATGCACC	0.473000																								0							SO:0001583	missense			ENST00000330836.5	1	1	hg19	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780661	0.31502	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04706	3.57;3.57;3.57	5.36	3.5	0.40072	DEAD-like helicase (2);	0.588254	0.19785	N	0.106136	T	0.02970	0.0088	N	0.14661	0.345	0.32623	N	0.523092	B	0.22414	0.069	B	0.26614	0.071	T	0.35101	-0.9802	10	0.12430	T	0.62	-0.1179	7.8637	0.29524	0.0:0.6935:0.1462:0.1603	.	516	Q9GZR7	DDX24_HUMAN	S	516;266;461;142;473;473	ENSP00000328690:A516S;ENSP00000440623:A266S;ENSP00000452145:A473S	ENSP00000328690:A516S	A	-	1	0	DDX24	93596564	0.908000	0.30866	0.988000	0.46212	0.653000	0.38743	0.647000	0.24812	0.713000	0.32060	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	1	0	1	143	672	0	193	1	1	90	424	0	193	2		0	0	0	0	0	2	1	1	140	645	0	191	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX24	57062	broad.mit.edu	37	14	94545647	94545647	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94545647C>T	ENST00000330836.5	-	2	573	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.V105I|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24			23		all_cancers(154;0.12)			GCAGTTTGGACCAGGTTTTCT	0.473000																								0							SO:0001583	missense			ENST00000330836.5	1	1	hg19	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806722	0.16467	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03152	4.03;4.05	5.31	-3.75	0.04372	.	1.340160	0.04202	N	0.330315	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.23442	0.085	B	0.16722	0.016	T	0.44544	-0.9321	10	0.29301	T	0.29	-1.4457	1.0959	0.01673	0.1641:0.2669:0.2463:0.3226	.	148	Q9GZR7	DDX24_HUMAN	I	148;148;105;105	ENSP00000328690:V148I;ENSP00000452145:V105I	ENSP00000328690:V148I	V	-	1	0	DDX24	93615400	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.267000	0.08619	-0.393000	0.07739	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	1	0	0	45	620	0	97	1	1	33	377	0	97	2		0	0	0	0	0	2	1	1	43	600	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.790000	0.580000	1.000000	1.000000	0.799159	0.790000	0	6.800000e-01	9.100000e-01
IFI27L1	122509	broad.mit.edu	37	14	94568225	94568225	+	Missense_Mutation	SNP	G	G	A	rs148533447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94568225G>A	ENST00000555523.1	+	4	346	c.127G>A	c.(127-129)Gca>Aca	p.A43T	IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000556381.1_Missense_Mutation_p.A42T|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H|IFI27L1_ENST00000554544.1_Intron	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1			2					AGGAATCGCCGCATCCTCCAT	0.597000																								0							SO:0001583	missense			ENST00000555523.1	1	1	hg19	CCDS9919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.739288|2.739288	0.49045|0.49045	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165948|ENSG00000165948	ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562|ENST00000553664	T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85|.	3.48|3.48	2.59|2.59	0.31030|0.31030	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.91612|0.91612	3.225|3.225	0.39235|0.39235	D|D	0.963742|0.963742	P|.	0.47302|.	0.893|.	B|.	0.38842|.	0.283|.	T|T	0.78690|0.78690	-0.2106|-0.2106	10|5	0.66056|.	D|.	0.02|.	.|.	6.7502|6.7502	0.23483|0.23483	0.1294:0.0:0.8706:0.0|0.1294:0.0:0.8706:0.0	.|.	43|.	Q96BM0|.	I27L1_HUMAN|.	T|H	43;43;42;42;42;43|65	ENSP00000451851:A43T;ENSP00000376824:A43T;ENSP00000452226:A42T;ENSP00000451459:A42T;ENSP00000451608:A42T;ENSP00000450620:A43T|.	ENSP00000376824:A43T|.	A|R	+|+	1|2	0|0	IFI27L1|IFI27L1	93637978|93637978	0.997000|0.997000	0.39634|0.39634	0.239000|0.239000	0.24122|0.24122	0.000000|0.000000	0.00434|0.00434	5.284000|5.284000	0.65627|0.65627	1.063000|1.063000	0.40649|0.40649	-0.218000|-0.218000	0.12543|0.12543	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	1	0	1	54	242	0	64	1	9.999533e-01	10	59	0	64	2		0	0	0	0	0	2	1	1	54	242	0	64	2								-3.262380	1	1	121412	2	36	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFI27	3429	broad.mit.edu	37	14	94582203	94582203	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94582203G>T	ENST00000555744.1	+	4	386	c.198G>T	c.(196-198)aaG>aaT	p.K66N	IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N|IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000444961.1_Missense_Mutation_p.K69N			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27			4					TAGCAGCCAAGATGATGTCCG	0.627000													GBM(128;797 1667 20895 29868 47129)											0							SO:0001583	missense			ENST00000555744.1	0	1	hg19	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859737	0.17178	.	.	ENSG00000165949	ENST00000444961;ENST00000448882;ENST00000557098;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	3.52	1.67	0.24075	.	0.553031	0.19684	N	0.108458	T	0.53351	0.1791	M	0.83692	2.655	0.39283	D	0.964603	D	0.63880	0.993	D	0.63192	0.912	T	0.55186	-0.8180	10	0.66056	D	0.02	.	5.5879	0.17285	0.2502:0.0:0.7498:0.0	.	66	P40305	IFI27_HUMAN	N	69;69;21;66;66;56;66	ENSP00000413536:K69N;ENSP00000410901:K69N;ENSP00000450753:K21N;ENSP00000451875:K66N;ENSP00000298902:K66N;ENSP00000452560:K56N;ENSP00000451956:K66N	ENSP00000298902:K66N	K	+	3	2	IFI27	93651956	0.001000	0.12720	0.997000	0.53966	0.032000	0.12392	-0.770000	0.04705	0.475000	0.27415	0.563000	0.77884	AAG		TCGA-IB-7651-01A-11D-2154-08	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	1	0	1	11	60	0	12	1	1	2110	4245	0	12	2		0	0	0	0	0	2	1	9.987863e-01	11	60	0	11	2								-19.682250	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.920000	1.000000	1.000000	0.994982	0.990000	1	9.900000e-01	1
PPP4R4	57718	broad.mit.edu	37	14	94711935	94711935	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94711935T>A	ENST00000304338.3	+	13	1510	c.1356T>A	c.(1354-1356)gcT>gcA	p.A452A		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4			40					TACTAGATGCTCTTATAGATC	0.313000																								0							SO:0001819	synonymous_variant			ENST00000304338.3	1	1	hg19	CCDS9921.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	1	0	1	44	201	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	39	198	0	92	2								-19.999990	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP4R4	57718	broad.mit.edu	37	14	94725670	94725670	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94725670A>C	ENST00000304338.3	+	19	2245	c.2091A>C	c.(2089-2091)caA>caC	p.Q697H		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4			40					TGTTGGATCAAGAGAAAGAAA	0.274000																								0							SO:0001583	missense			ENST00000304338.3	1	1	hg19	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326833	0.60743	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.09	3.76	0.43208	.	0.217642	0.40728	N	0.001033	T	0.69424	0.3109	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71213	-0.4659	9	0.66056	D	0.02	-13.8615	7.9117	0.29796	0.8219:0.0:0.1781:0.0	.	697	Q6NUP7	PP4R4_HUMAN	H	697	.	ENSP00000305924:Q697H	Q	+	3	2	PPP4R4	93795423	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.117000	0.41939	2.028000	0.59812	0.377000	0.23210	CAA		TCGA-IB-7651-01A-11D-2154-08	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	1	0	1	21	102	0	20	0	0	0	1	0	20	2		0	0	0	0	0	2	1	9.999987e-01	21	101	0	20	2								-13.787620	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999828	0.990000	1	9.900000e-01	1
SERPINA10	51156	broad.mit.edu	37	14	94756575	94756575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94756575G>A	ENST00000393096.1	-	2	821	c.356C>T	c.(355-357)cCg>cTg	p.P119L	SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000554723.1_Missense_Mutation_p.P159L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10			33		all_cancers(154;0.105)			GGTTTCAGTCGGCCCTGTGGC	0.587000																								0							SO:0001583	missense			ENST00000393096.1	1	1	hg19	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965782	0.02249	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.12	-1.12	0.09808	Serpin domain (3);	1.226040	0.05781	N	0.608681	T	0.81361	0.4806	L	0.42245	1.32	0.09310	N	1	B	0.21606	0.058	B	0.08055	0.003	T	0.64449	-0.6405	10	0.45353	T	0.12	.	8.1594	0.31190	0.125:0.0:0.4412:0.4338	.	119	Q9UK55	ZPI_HUMAN	L	159;119;119;119	ENSP00000450896:P159L;ENSP00000376809:P119L;ENSP00000261994:P119L;ENSP00000450971:P119L	ENSP00000261994:P119L	P	-	2	0	SERPINA10	93826328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.410000	0.07542	-2.087000	0.00375	CCG		TCGA-IB-7651-01A-11D-2154-08	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	1	0	1	54	241	0	55	0	0	0	1	0	55	2		0	0	0	0	0	2	1	1	51	240	0	54	2								-3.443623	1	1	121412	9	41	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA6	866	broad.mit.edu	37	14	94770780	94770780	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94770780A>G	ENST00000341584.3	-	5	1339	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6			26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AACCCTCGCCAGGAAAAGGCT	0.532000																								0							SO:0001583	missense			ENST00000341584.3	0	1	hg19	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669831	0.47677	.	.	ENSG00000170099	ENST00000341584	D	0.85629	-2.01	4.83	4.83	0.62350	Serpin domain (3);	0.409870	0.20102	N	0.099210	D	0.93687	0.7983	M	0.93062	3.375	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.94709	0.7890	10	0.87932	D	0	.	13.0635	0.59020	1.0:0.0:0.0:0.0	.	398	P08185	CBG_HUMAN	P	398	ENSP00000342850:L398P	ENSP00000342850:L398P	L	-	2	0	SERPINA6	93840533	0.995000	0.38212	0.077000	0.20336	0.133000	0.20885	6.149000	0.71795	2.164000	0.68074	0.533000	0.62120	CTG		TCGA-IB-7651-01A-11D-2154-08	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	0	0	0	10	353	0	69	0	2.840268e-01	0	35	0	69	2		0	0	0	0	0	2	1	9.967127e-01	10	347	0	67	2								-3.291677	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.330000	0.160000	0.560000	0.310000	0.348188	0.330000	0	2.400000e-01	4.500000e-01
SERPINA1	5265	broad.mit.edu	37	14	94847322	94847322	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94847322T>C	ENST00000448921.1	-	5	1375	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1			24		all_cancers(154;0.0649)|all_epithelial(191;0.223)			ATTGCCCAGGTATTTCATCAG	0.507000																								0							SO:0001583	missense			ENST00000448921.1	1	1	hg19	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433713	0.43224	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.05	5.05	0.67936	Serpin domain (3);	0.197104	0.35179	N	0.003382	D	0.95326	0.8483	M	0.93638	3.44	0.48830	D	0.999713	D;D	0.56521	0.97;0.976	P;D	0.63793	0.809;0.918	D	0.96388	0.9287	10	0.87932	D	0	.	14.0833	0.64939	0.0:0.0:0.0:1.0	.	268;268	P01009-2;P01009	.;A1AT_HUMAN	C	268	ENSP00000390299:Y268C;ENSP00000416066:Y268C;ENSP00000408474:Y268C;ENSP00000348068:Y268C;ENSP00000376802:Y268C;ENSP00000376803:Y268C;ENSP00000385960:Y268C;ENSP00000416354:Y268C;ENSP00000386094:Y268C	ENSP00000348068:Y268C	Y	-	2	0	SERPINA1	93917075	1.000000	0.71417	0.076000	0.20297	0.163000	0.22366	3.694000	0.54742	2.051000	0.60960	0.374000	0.22700	TAC		TCGA-IB-7651-01A-11D-2154-08	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	1	0	1	56	299	0	72	1	1	2071	5272	0	72	2		0	0	0	0	0	2	1	1	55	295	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA9	327657	broad.mit.edu	37	14	94933482	94933482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94933482C>T	ENST00000380365.3	-	3	944	c.866G>A	c.(865-867)aGa>aAa	p.R289K	SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K|SERPINA9_ENST00000337425.5_Missense_Mutation_p.R307K|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9			21		all_cancers(154;0.0691)|all_epithelial(191;0.233)			TCTCAGTGTTCTGGCTGACAA	0.537000																								0							SO:0001583	missense			ENST00000380365.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.05	1.243737	0.22796	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	3.89	1.83	0.25207	Serpin domain (3);	0.695785	0.13348	N	0.394612	T	0.63827	0.2544	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.15141	0.001;0.0;0.0;0.0;0.012	B;B;B;B;B	0.14023	0.007;0.004;0.001;0.003;0.01	T	0.49351	-0.8949	10	0.25106	T	0.35	.	4.7624	0.13115	0.0:0.4258:0.4239:0.1503	.	271;289;209;307;207	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	K	209;207;158;307;289;271	ENSP00000414092:R209K;ENSP00000298845:R207K;ENSP00000409012:R158K;ENSP00000337133:R307K;ENSP00000369723:R289K;ENSP00000445476:R271K	ENSP00000298845:R207K	R	-	2	0	SERPINA9	94003235	0.000000	0.05858	0.055000	0.19348	0.965000	0.64279	0.080000	0.14802	0.972000	0.38314	0.462000	0.41574	AGA		TCGA-IB-7651-01A-11D-2154-08	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	1	0	1	59	278	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	59	268	0	80	2								-3.381584	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA9	327657	broad.mit.edu	37	14	94935809	94935809	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94935809A>G	ENST00000380365.3	-	2	447	c.369T>C	c.(367-369)gtT>gtC	p.V123V	SERPINA9_ENST00000546329.1_Silent_p.V105V|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Silent_p.V43V|SERPINA9_ENST00000337425.5_Silent_p.V141V|SERPINA9_ENST00000298845.7_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9			21		all_cancers(154;0.0691)|all_epithelial(191;0.233)			CTTTGCTGGGAACAGTCAGTG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000380365.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	0	0	0	15	711	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	9.998392e-01	15	690	0	130	2								-11.588920	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.240000	0.140000	0.380000	0.240000	0.255691	0.240000	0	1.800000e-01	3.200000e-01
SERPINA12	145264	broad.mit.edu	37	14	94962746	94962746	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94962746T>C	ENST00000341228.2	-	4	1664	c.869A>G	c.(868-870)gAc>gGc	p.D290G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12			33					GGAGAAAGTGTCCACCTGCAA	0.478000																								0							SO:0001583	missense			ENST00000341228.2	1	1	hg19	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.805753	0.31961	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84589	-1.87;-1.87	5.46	5.46	0.80206	Serpin domain (3);	0.373627	0.25804	N	0.028183	T	0.81922	0.4925	M	0.62088	1.915	0.24392	N	0.994748	B	0.30068	0.267	B	0.34722	0.188	T	0.73799	-0.3869	10	0.41790	T	0.15	.	5.974	0.19369	0.1464:0.0786:0.0:0.775	.	290	Q8IW75	SPA12_HUMAN	G	290	ENSP00000451738:D290G;ENSP00000342109:D290G	ENSP00000342109:D290G	D	-	2	0	SERPINA12	94032499	0.155000	0.22806	0.026000	0.17262	0.005000	0.04900	3.341000	0.52151	2.074000	0.62210	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	1	0	1	112	456	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	111	442	0	133	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA5	5104	broad.mit.edu	37	14	95054153	95054153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054153C>A	ENST00000554866.1	+	2	568	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000329597.7_Missense_Mutation_p.L152M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5			36				Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGAAGACGCTGTACCTGGC	0.532000																								0							SO:0001583	missense			ENST00000554866.1	1	1	hg19	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308874	0.40895	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	3.74	-2.4	0.06583	Serpin domain (3);	0.443348	0.18646	N	0.135143	D	0.84754	0.5542	M	0.65320	2	0.09310	N	1	B;P	0.45212	0.263;0.853	B;P	0.54924	0.258;0.764	T	0.76247	-0.3029	10	0.66056	D	0.02	.	4.7179	0.12904	0.4759:0.2975:0.0:0.2266	.	152;152	G3V5Q9;P05154	.;IPSP_HUMAN	M	152;152;152;152;152;152;4;76;152;152	ENSP00000450484:L152M;ENSP00000450837:L152M;ENSP00000452469:L152M;ENSP00000451126:L152M;ENSP00000333203:L152M;ENSP00000450745:L152M;ENSP00000451610:L152M;ENSP00000450485:L152M	ENSP00000333203:L152M	L	+	1	2	SERPINA5	94123906	0.000000	0.05858	0.042000	0.18584	0.019000	0.09904	-0.517000	0.06275	-0.244000	0.09639	-1.383000	0.01170	CTG		TCGA-IB-7651-01A-11D-2154-08	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	1	0	1	48	208	0	51	1	1	19	154	0	51	2		0	0	0	0	0	2	1	1	46	204	0	51	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA5	5104	broad.mit.edu	37	14	95054179	95054179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054179C>T	ENST00000554866.1	+	2	594	c.480C>T	c.(478-480)acC>acT	p.T160T	SERPINA5_ENST00000554276.1_Silent_p.T160T|SERPINA5_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000329597.7_Silent_p.T160T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5			36				Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTCCCTACCAACTTTAGGG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000554866.1	1	1	hg19	CCDS9928.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	1	0	1	45	261	0	52	1	1	30	144	0	52	2		0	0	0	0	0	2	1	1	45	255	0	52	2								-2.883700	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
SERPINA5	5104	broad.mit.edu	37	14	95056472	95056472	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95056472C>T	ENST00000554866.1	+	3	828	c.714C>T	c.(712-714)cgC>cgT	p.R238R	SERPINA5_ENST00000554276.1_Silent_p.R238R|RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000553780.1_Silent_p.R238R|SERPINA5_ENST00000329597.7_Silent_p.R238R			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5			36				Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGATGAGCCGCGAGGATCAGT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000554866.1	1	1	hg19	CCDS9928.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	1	0	1	41	193	0	48	1	1	40	180	0	48	2		0	0	0	0	0	2	1	1	40	190	0	47	2								-20.000000	1	1	121412	8	42	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SERPINA3	12	broad.mit.edu	37	14	95090073	95090073	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95090073C>A	ENST00000467132.1	+	5	2342	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Silent_p.P180P|SERPINA3_ENST00000393078.3_Silent_p.P398P|SERPINA3_ENST00000393080.4_Silent_p.P398P			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3			40		all_cancers(154;0.0525)|all_epithelial(191;0.179)			TCAACAGGCCCTTCCTGATGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000467132.1	0	1	hg19	CCDS32150.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	0	0	0	12	653	0	127	1	1	200	7461	0	127	2		0	0	0	0	0	2	1	9.990546e-01	12	645	0	126	2								-2.544705	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.210000	0.110000	0.350000	0.210000	0.226604	0.210000	0	1.500000e-01	2.900000e-01
DICER1	23405	broad.mit.edu	37	14	95560313	95560313	+	Missense_Mutation	SNP	T	T	C	rs144259142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95560313T>C	ENST00000526495.1	-	26	5567	c.5276A>G	c.(5275-5277)aAa>aGa	p.K1759R	DICER1_ENST00000556045.1_Missense_Mutation_p.K657R|DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000527416.2_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			AGAGACAGCTTTGAAGTACTT	0.493000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	1	1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893633	0.52121	2.27E-4	1.16E-4	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.29	5.29	0.74685	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	N	0.04994	-0.135	0.80722	D	1	B;D	0.76494	0.301;0.999	B;D	0.83275	0.144;0.996	T	0.65479	-0.6158	10	0.02654	T	1	-26.0429	15.2459	0.73507	0.0:0.0:0.0:1.0	.	657;1759	B3KRG4;Q9UPY3	.;DICER_HUMAN	R	1759;1759;1759;1759;657;1759	ENSP00000343745:K1759R;ENSP00000437256:K1759R;ENSP00000376783:K1759R;ENSP00000435681:K1759R;ENSP00000451041:K657R;ENSP00000444719:K1759R	ENSP00000343745:K1759R	K	-	2	0	DICER1	94630066	1.000000	0.71417	0.738000	0.30950	0.984000	0.73092	7.630000	0.83225	1.998000	0.58463	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1	116	484	0	91	1	1	15	91	0	91	2		0	0	0	0	0	2	1	1	115	476	0	91	2								-20.000000	1	1	121412	6	44	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DICER1	23405	broad.mit.edu	37	14	95566220	95566220	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95566220C>T	ENST00000526495.1	-	24	4394	c.4103G>A	c.(4102-4104)cGc>cAc	p.R1368H	DICER1_ENST00000556045.1_Missense_Mutation_p.R266H|DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H|DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			CACCACCATGCGGCTGGGTAG	0.403000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	1	1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941045	0.92526	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.91	5.91	0.95273	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	N	0.10809	0.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.989	T	0.74435	-0.3666	10	0.15952	T	0.53	-18.6466	20.2985	0.98592	0.0:1.0:0.0:0.0	.	266;1368;1368	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	H	1368;1368;1368;1368;266;1368	ENSP00000343745:R1368H;ENSP00000437256:R1368H;ENSP00000376783:R1368H;ENSP00000435681:R1368H;ENSP00000451041:R266H;ENSP00000444719:R1368H	ENSP00000343745:R1368H	R	-	2	0	DICER1	94635973	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	0	0	1	90	386	1	103	1	9.979271e-01	15	56	1	103	5		0	0	0	0	0	2	1	1	88	374	0	101	2								-3.115446	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DICER1	23405	broad.mit.edu	37	14	95569987	95569987	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95569987T>G	ENST00000526495.1	-	23	4037	c.3746A>C	c.(3745-3747)aAa>aCa	p.K1249T	DICER1_ENST00000556045.1_Missense_Mutation_p.K147T|DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T|DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			TGAGGTAGATTTGTTAGCATT	0.453000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	1	1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220878	0.39201	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.88046	0.3;0.3;0.3;0.3;-2.33;0.61	5.42	-10.7	0.00240	.	1.103310	0.06649	N	0.762409	T	0.69278	0.3093	N	0.08118	0	0.32462	N	0.543931	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46624	-0.9178	10	0.16420	T	0.52	-0.1329	14.2372	0.65934	0.0:0.1201:0.6567:0.2232	.	147;1249;1249	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	T	1249;1249;1249;1249;147;1249	ENSP00000343745:K1249T;ENSP00000437256:K1249T;ENSP00000376783:K1249T;ENSP00000435681:K1249T;ENSP00000451041:K147T;ENSP00000444719:K1249T	ENSP00000343745:K1249T	K	-	2	0	DICER1	94639740	0.926000	0.31397	0.456000	0.27044	0.997000	0.91878	-0.044000	0.12023	-2.268000	0.00685	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1	109	485	0	125	1	9.999743e-01	6	63	0	125	2		0	0	0	0	0	2	1	1	109	478	0	125	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DICER1	23405	broad.mit.edu	37	14	95571439	95571439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95571439C>T	ENST00000526495.1	-	22	3529	c.3238G>A	c.(3238-3240)Gtg>Atg	p.V1080M	DICER1_ENST00000556045.1_Silent_p.A3A|DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M|DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			CTGACTCCCACGCCAGCATCG	0.488000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	1	1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539243	0.85917	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.4	5.65	4.74	0.60224	.	0.059006	0.64402	D	0.000002	T	0.69024	0.3065	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	T	0.72207	-0.4360	10	0.62326	D	0.03	-15.7828	16.3846	0.83500	0.0:0.868:0.132:0.0	.	1080	Q9UPY3	DICER_HUMAN	M	1080	ENSP00000343745:V1080M;ENSP00000437256:V1080M;ENSP00000376783:V1080M;ENSP00000435681:V1080M;ENSP00000444719:V1080M	ENSP00000343745:V1080M	V	-	1	0	DICER1	94641192	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.786000	0.85741	1.343000	0.45638	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	0	29	592	0	132	1	7.608932e-01	3	55	0	132	2		0	0	0	0	0	2	1	1	29	583	0	132	2								-5.390032	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.540000	0.370000	0.750000	0.550000	0.559567	0.540000	0	4.500000e-01	6.500000e-01
DICER1	23405	broad.mit.edu	37	14	95572534	95572534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95572534C>T	ENST00000526495.1	-	20	3122	c.2831G>A	c.(2830-2832)cGa>cAa	p.R944Q	DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q|DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q|DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			TACATAAAATCGATGAGGCTG	0.308000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	1	1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452143	0.84209	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00308	-1.1829	10	0.30078	T	0.28	-9.8467	19.5062	0.95116	0.0:1.0:0.0:0.0	.	944	Q9UPY3	DICER_HUMAN	Q	944	ENSP00000343745:R944Q;ENSP00000437256:R944Q;ENSP00000376783:R944Q;ENSP00000435681:R944Q;ENSP00000444719:R944Q	ENSP00000343745:R944Q	R	-	2	0	DICER1	94642287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.604000	0.88044	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1	73	375	0	73	1	9.902038e-01	4	35	0	73	2		0	0	0	0	0	2	1	1	73	368	0	73	2								-3.086790	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DICER1	23405	broad.mit.edu	37	14	95582075	95582075	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95582075T>C	ENST00000526495.1	-	13	2127	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	DICER1_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P|DICER1_ENST00000527414.1_Silent_p.P612P|DICER1_ENST00000393063.1_Silent_p.P612P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			ACACATATGGTGGGAAAACGT	0.428000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001819	synonymous_variant	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	1	1	hg19	CCDS9931.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	0	0	1	88	344	0	79	1	9.999424e-01	9	49	0	79	2		0	0	0	0	0	2	1	1	82	340	0	79	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DICER1	23405	broad.mit.edu	37	14	95590927	95590927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95590927C>A	ENST00000526495.1	-	10	1273	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			TTCTGTAGTTCTCTTACCATC	0.378000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001587	stop_gained	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	0	1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	41	8.909045	0.98998	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-27.7842	19.4888	0.95042	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000343745:E328X	E	-	1	0	DICER1	94660680	1.000000	0.71417	0.656000	0.29637	0.992000	0.81027	7.267000	0.78462	2.607000	0.88179	0.585000	0.79938	GAA		TCGA-IB-7651-01A-11D-2154-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	0	19	445	0	96	0	5.454104e-01	1	42	0	96	2		0	0	0	0	0	2	1	9.999891e-01	19	435	0	96	2								-4.465050	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.480000	0.300000	0.710000	0.480000	0.497360	0.480000	0	3.800000e-01	6.000000e-01
DICER1	23405	broad.mit.edu	37	14	95596505	95596505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95596505C>T	ENST00000526495.1	-	7	754	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	DICER1_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_Missense_Mutation_p.A155T|DICER1_ENST00000527414.1_Missense_Mutation_p.A155T|DICER1_ENST00000393063.1_Missense_Mutation_p.A155T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			ACATTCAAGGCGACATAGCAA	0.353000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	1	1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395293	0.62066	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.84	5.84	0.93424	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.142483	0.64402	D	0.000005	T	0.11879	0.0289	N	0.17082	0.46	0.41634	D	0.98903	P	0.37663	0.604	B	0.32980	0.156	T	0.05767	-1.0865	10	0.87932	D	0	-14.1645	14.9169	0.70805	0.1431:0.8569:0.0:0.0	.	155	Q9UPY3	DICER_HUMAN	T	155	ENSP00000343745:A155T;ENSP00000437256:A155T;ENSP00000376783:A155T;ENSP00000435681:A155T;ENSP00000444719:A155T	ENSP00000343745:A155T	A	-	1	0	DICER1	94666258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.910000	0.56371	2.753000	0.94483	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	1	15	137	0	30	1	9.584699e-01	10	42	0	30	2		0	0	0	0	0	2	1	9.998943e-01	15	136	0	30	2								-7.917590	1	1	121410	1	30	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.680000	1.000000	1.000000	0.960777	0.990000	1	8.900000e-01	1
ATG2B	55102	broad.mit.edu	37	14	96758421	96758421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96758421G>A	ENST00000359933.4	-	37	6334	c.5441C>T	c.(5440-5442)aCg>aTg	p.T1814M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B			64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)			AACTTCTGACGTGAATCTAAA	0.308000																								0							SO:0001583	missense			ENST00000359933.4	1	1	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944723	0.73672	.	.	ENSG00000066739	ENST00000359933	T	0.10960	2.82	5.14	3.31	0.37934	.	0.050873	0.85682	D	0.000000	T	0.25082	0.0609	L	0.56769	1.78	0.53005	D	0.999967	D	0.89917	1.0	D	0.85130	0.997	T	0.00579	-1.1661	10	0.32370	T	0.25	.	10.3739	0.44071	0.1366:0.0:0.8634:0.0	.	1814	Q96BY7	ATG2B_HUMAN	M	1814	ENSP00000353010:T1814M	ENSP00000261834:T458M	T	-	2	0	ATG2B	95828174	1.000000	0.71417	0.859000	0.33776	0.979000	0.70002	4.832000	0.62759	0.652000	0.30806	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1	63	317	0	77	1	9.992151e-01	10	45	0	77	2		0	0	0	0	0	2	1	1	62	310	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATG2B	55102	broad.mit.edu	37	14	96777551	96777551	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96777551G>A	ENST00000359933.4	-	28	4957	c.4064C>T	c.(4063-4065)gCg>gTg	p.A1355V	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B			64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)			ATTCATTAACGCAGCACAAGA	0.458000																								0							SO:0001583	missense			ENST00000359933.4	1	1	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968575	0.74131	.	.	ENSG00000066739	ENST00000359933	T	0.12879	2.64	5.48	5.48	0.80851	.	0.104808	0.64402	D	0.000004	T	0.40645	0.1125	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07751	-1.0756	10	0.30854	T	0.27	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1355	Q96BY7	ATG2B_HUMAN	V	1355	ENSP00000353010:A1355V	ENSP00000353010:A1355V	A	-	2	0	ATG2B	95847304	1.000000	0.71417	0.881000	0.34555	0.567000	0.35839	9.134000	0.94467	2.576000	0.86940	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1	117	528	1	154	0	9.854710e-01	1	31	1	154	2		0	0	0	0	0	2	1	1	116	521	0	153	2								-20.000000	1	1	121412	1	32	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATG2B	55102	broad.mit.edu	37	14	96789073	96789073	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96789073C>A	ENST00000359933.4	-	17	3434		c.e17-1		snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B			64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)			CAGTACAATTCTGATAGCAAA	0.358000																								0							SO:0001630	splice_region_variant			ENST00000359933.4	1	1	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516160	0.64634	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG2B	95858826	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.270000	0.78493	2.679000	0.91253	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1	48	204	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	47	200	0	41	2								-3.523648	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATG2B	55102	broad.mit.edu	37	14	96795031	96795031	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96795031A>C	ENST00000359933.4	-	13	2847	c.1954T>G	c.(1954-1956)Tct>Gct	p.S652A		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B			64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)			CTATTCTCAGAATGCTTATAA	0.333000																								0							SO:0001583	missense			ENST00000359933.4	1	1	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716959	0.48622	.	.	ENSG00000066739	ENST00000359933	T	0.10005	2.92	5.84	5.84	0.93424	.	0.549872	0.16658	U	0.204891	T	0.15478	0.0373	M	0.62723	1.935	0.33735	D	0.618764	B	0.10296	0.003	B	0.06405	0.002	T	0.06752	-1.0809	10	0.30854	T	0.27	.	16.2233	0.82274	1.0:0.0:0.0:0.0	.	652	Q96BY7	ATG2B_HUMAN	A	652	ENSP00000353010:S652A	ENSP00000353010:S652A	S	-	1	0	ATG2B	95864784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	2.243000	0.73865	0.482000	0.46254	TCT		TCGA-IB-7651-01A-11D-2154-08	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1	47	258	0	69	1	9.468381e-01	6	23	0	69	2		0	0	0	0	0	2	1	1	45	258	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ATG2B	55102	broad.mit.edu	37	14	96813603	96813603	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96813603A>G	ENST00000359933.4	-	2	1131	c.238T>C	c.(238-240)Tca>Cca	p.S80P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B			64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)			CATGGAACTGACAGGGAAATT	0.458000																								0							SO:0001583	missense			ENST00000359933.4	1	1	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720166	0.68844	.	.	ENSG00000066739	ENST00000359933	D	0.83163	-1.69	5.39	5.39	0.77823	.	0.082874	0.49916	U	0.000134	D	0.88923	0.6569	M	0.71581	2.175	0.45227	D	0.998237	D	0.60575	0.988	P	0.59357	0.856	D	0.89978	0.4098	10	0.62326	D	0.03	.	15.3981	0.74812	1.0:0.0:0.0:0.0	.	80	Q96BY7	ATG2B_HUMAN	P	80	ENSP00000353010:S80P	ENSP00000353010:S80P	S	-	1	0	ATG2B	95883356	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.667000	0.68067	2.046000	0.60703	0.459000	0.35465	TCA		TCGA-IB-7651-01A-11D-2154-08	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	1	32	183	0	37	1	5.086915e-01	2	9	0	37	2		0	0	0	0	0	2	1	1	32	182	0	37	2								-16.839820	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
AK7	122481	broad.mit.edu	37	14	96871122	96871122	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96871122G>A	ENST00000267584.4	+	3	367	c.323G>A	c.(322-324)cGc>cAc	p.R108H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7			31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)			CTTCTCATGCGCCTGCTGGAG	0.433000																								0							SO:0001583	missense			ENST00000267584.4	1	1	hg19	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	2.046	-0.418996	0.04766	.	.	ENSG00000140057	ENST00000267584	T	0.46451	0.87	5.35	-1.88	0.07713	.	0.693376	0.14912	N	0.291158	T	0.21145	0.0509	N	0.16098	0.37	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.12430	T	0.62	-5.7225	11.7457	0.51819	0.4671:0.0:0.5329:0.0	.	108	Q96M32	KAD7_HUMAN	H	108	ENSP00000267584:R108H	ENSP00000267584:R108H	R	+	2	0	AK7	95940875	0.000000	0.05858	0.003000	0.11579	0.155000	0.21991	-0.006000	0.12833	-0.217000	0.10033	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	1	0	1	38	190	0	47	1	9.600503e-01	11	17	0	47	2		0	0	0	0	0	2	1	1	38	187	0	47	2								-3.194413	1	1	121412	5	35	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
AK7	122481	broad.mit.edu	37	14	96887164	96887164	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96887164T>G	ENST00000267584.4	+	5	548	c.504T>G	c.(502-504)gaT>gaG	p.D168E	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7			31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)			AATAGGAGGATTCTGAGGTTC	0.343000																								0							SO:0001583	missense			ENST00000267584.4	1	1	hg19	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021001	0.54576	.	.	ENSG00000140057	ENST00000267584	T	0.64803	-0.12	5.21	-3.58	0.04597	NAD(P)-binding domain (1);	0.107337	0.64402	D	0.000009	T	0.72236	0.3435	M	0.84585	2.705	0.26550	N	0.973937	D	0.55605	0.972	P	0.58013	0.831	T	0.70270	-0.4918	10	0.72032	D	0.01	-40.7125	11.2731	0.49150	0.0:0.4445:0.0:0.5555	.	168	Q96M32	KAD7_HUMAN	E	168	ENSP00000267584:D168E	ENSP00000267584:D168E	D	+	3	2	AK7	95956917	0.024000	0.19004	0.001000	0.08648	0.187000	0.23431	0.008000	0.13197	-0.996000	0.03455	-0.441000	0.05720	GAT		TCGA-IB-7651-01A-11D-2154-08	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	1	0	1	50	242	0	41	1	9.837941e-01	16	18	0	41	2		0	0	0	0	0	2	1	1	49	234	0	41	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AK7	122481	broad.mit.edu	37	14	96904235	96904235	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96904235T>C	ENST00000267584.4	+	6	717	c.673T>C	c.(673-675)Tta>Cta	p.L225L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7			31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)			AGGAGGCATGTTACACACATT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000267584.4	1	1	hg19	CCDS9945.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	0	0	0	7	311	0	46	1	2.202209e-01	4	31	0	46	2		0	0	0	0	0	2	1	9.793211e-01	7	304	0	45	2								-7.695373	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.270000	0.110000	0.490000	0.260000	0.288269	0.270000	0	1.800000e-01	3.800000e-01
AK7	122481	broad.mit.edu	37	14	96909108	96909108	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96909108C>T	ENST00000267584.4	+	7	776	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7			31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)			CAGTTTTTGGCGATGGAACAA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000267584.4	0	1	hg19	CCDS9945.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1	0	0	0	13	682	0	124	0	1.175699e-01	1	28	0	124	2		0	0	0	0	0	2	1	9.994831e-01	12	671	0	123	2								-2.114023	0	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.220000	0.120000	0.360000	0.220000	0.233608	0.220000	0	1.600000e-01	2.900000e-01
PAPOLA	10914	broad.mit.edu	37	14	97018865	97018865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97018865G>A	ENST00000216277.8	+	17	1790	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha			21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)			CAGCAGCCTCGACTTGTCTAT	0.413000													NSCLC(19;254 734 11908 35501 39234)											0							SO:0001583	missense			ENST00000216277.8	1	1	hg19	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070980	0.76301	0.0	1.16E-4	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.61703	1.905	0.80722	D	1	P;P;P	0.47106	0.89;0.856;0.856	B;B;B	0.36335	0.222;0.148;0.148	T	0.54879	-0.8227	9	0.18710	T	0.47	.	19.3796	0.94527	0.0:0.0:1.0:0.0	.	540;540;524	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	N	524;540;524;274	.	ENSP00000216277:D524N	D	+	1	0	PAPOLA	96088618	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.102000	0.89548	2.644000	0.89710	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2	1	0	1	68	333	0	80	1	1	53	167	0	80	2		0	0	0	0	0	2	1	1	66	329	0	79	2								-3.348804	1	1	121412	1	31	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAPOLA	10914	broad.mit.edu	37	14	97029194	97029194	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97029194A>C	ENST00000216277.8	+	21	2326	c.2106A>C	c.(2104-2106)gaA>gaC	p.E702D	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E681D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha			21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)			CTCAATCAGAAACTATTCAGA	0.378000													NSCLC(19;254 734 11908 35501 39234)											0							SO:0001583	missense			ENST00000216277.8	1	1	hg19	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279488	0.40294	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.93	2.27	0.28462	.	0.324591	0.29410	N	0.012234	T	0.23846	0.0577	N	0.14661	0.345	0.34784	D	0.73503	B;B;B	0.23316	0.004;0.002;0.083	B;B;B	0.17098	0.004;0.002;0.017	T	0.15752	-1.0426	9	0.18710	T	0.47	.	5.4407	0.16507	0.6994:0.1476:0.153:0.0	.	697;718;702	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	D	702;697;681;452	.	ENSP00000216277:E702D	E	+	3	2	PAPOLA	96098947	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.002000	0.29796	0.145000	0.18977	0.482000	0.46254	GAA		TCGA-IB-7651-01A-11D-2154-08	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2	1	0	1	149	554	0	145	1	1	74	208	0	145	2		0	0	0	0	0	2	1	1	149	546	0	144	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL11B	64919	broad.mit.edu	37	14	99640634	99640634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99640634C>T	ENST00000357195.3	-	4	2548	c.2539G>A	c.(2539-2541)Ggg>Agg	p.G847R	BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R|BCL11B_ENST00000345514.2_Missense_Mutation_p.G776R	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)			34		Melanoma(154;0.0866)|all_epithelial(191;0.241)			CCGATCTGCCCGTGCGTCTTC	0.627000			T	TLX3	T-ALL										Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0							SO:0001583	missense			ENST00000357195.3	1	1	hg19	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325480	0.81580	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07327	3.2;3.2;3.2	4.7	4.7	0.59300	.	0.295993	0.27567	N	0.018789	T	0.16471	0.0396	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.21655	-1.0239	10	0.87932	D	0	-14.1891	17.9731	0.89119	0.0:1.0:0.0:0.0	.	776;847	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	R	847;776;653	ENSP00000349723:G847R;ENSP00000280435:G776R;ENSP00000387419:G653R	ENSP00000280435:G776R	G	-	1	0	BCL11B	98710387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.331000	0.79229	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	0	10	225	0	50	0	5.272843e-02	0	8	0	50	2		0	0	0	0	0	2	1	9.968630e-01	10	222	0	50	2								-2.925714	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.510000	0.260000	0.850000	0.480000	0.531741	0.510000	0	3.700000e-01	6.800000e-01
BCL11B	64919	broad.mit.edu	37	14	99641019	99641019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99641019C>T	ENST00000357195.3	-	4	2163	c.2154G>A	c.(2152-2154)tcG>tcA	p.S718S	BCL11B_ENST00000443726.2_Silent_p.S524S|BCL11B_ENST00000345514.2_Silent_p.S647S	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)			34		Melanoma(154;0.0866)|all_epithelial(191;0.241)			TGAAGTGCCGCGACGCCGCGT	0.672000			T	TLX3	T-ALL										Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0							SO:0001819	synonymous_variant			ENST00000357195.3	1	1	hg19	CCDS9950.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	0	29	101	0	20	0	1.336193e-01	1	2	0	20	2		0	0	0	0	0	2	1	1	29	99	0	19	2								-20.000000	1	1	120356	1	26	1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
BCL11B	64919	broad.mit.edu	37	14	99697702	99697702	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697702C>T	ENST00000357195.3	-	3	629	c.620G>A	c.(619-621)gGa>gAa	p.G207E	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)			34		Melanoma(154;0.0866)|all_epithelial(191;0.241)			ACACTGGCATCCAAAGGGAGC	0.721000			T	TLX3	T-ALL										Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0							SO:0001583	missense			ENST00000357195.3	1	1	hg19	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570624	0.65765	.	.	ENSG00000127152	ENST00000357195	T	0.44881	0.91	5.28	5.28	0.74379	.	0.875761	0.09533	N	0.789240	T	0.56615	0.1997	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50955	-0.8766	10	0.49607	T	0.09	-1.9845	17.1189	0.86696	0.0:1.0:0.0:0.0	.	207	Q9C0K0	BC11B_HUMAN	E	207	ENSP00000349723:G207E	ENSP00000349723:G207E	G	-	2	0	BCL11B	98767455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.606000	0.61126	2.474000	0.83562	0.555000	0.69702	GGA		TCGA-IB-7651-01A-11D-2154-08	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	0	37	140	0	30	0	4.548803e-02	1	1	0	30	2		0	0	0	0	0	2	1	1	37	137	0	30	2								-20.000000	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL11B	64919	broad.mit.edu	37	14	99697788	99697788	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697788C>T	ENST00000357195.3	-	3	543	c.534G>A	c.(532-534)ccG>ccA	p.P178P	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)			34		Melanoma(154;0.0866)|all_epithelial(191;0.241)			GGAGGCAGGGCGGGAGAGCGC	0.697000			T	TLX3	T-ALL										Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0							SO:0001819	synonymous_variant			ENST00000357195.3	0	1	hg19	CCDS9950.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	0	0	0	27	99	1	21	0	2.096231e-01	0	4	1	21	2		0	0	0	0	0	2	1	9.406011e-01	27	97	1	20	18								-18.771590	1	0	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
BCL11B	64919	broad.mit.edu	37	14	99723995	99723995	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99723995C>A	ENST00000357195.3	-	2	249	c.240G>T	c.(238-240)caG>caT	p.Q80H	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Missense_Mutation_p.Q80H	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)			34		Melanoma(154;0.0866)|all_epithelial(191;0.241)			TGCCGCCACACTGCTTCCTTT	0.607000			T	TLX3	T-ALL										Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0							SO:0001583	missense			ENST00000357195.3	1	1	hg19	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631309	0.46944	.	.	ENSG00000127152	ENST00000357195;ENST00000345514	T;T	0.18657	2.2;2.2	5.89	4.06	0.47325	.	0.088060	0.45867	N	0.000331	T	0.35682	0.0940	L	0.52266	1.64	0.80722	D	1	D;B	0.71674	0.998;0.004	D;B	0.74023	0.982;0.011	T	0.03818	-1.1001	10	0.19590	T	0.45	-16.8894	12.052	0.53511	0.0:0.8138:0.1209:0.0653	.	80;80	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	H	80	ENSP00000349723:Q80H;ENSP00000280435:Q80H	ENSP00000280435:Q80H	Q	-	3	2	BCL11B	98793748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	0.816000	0.34421	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	1	0	1	77	364	0	69	1	1.459813e-01	2	2	0	69	2		0	0	0	0	0	2	1	1	73	356	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNK	8812	broad.mit.edu	37	14	99959071	99959071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99959071C>T	ENST00000389879.5	+	2	180	c.57C>T	c.(55-57)caC>caT	p.H19H	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.H19H	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K			6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)			ACCTGGACCACACAAAGCCAT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000389879.5	1	1	hg19	CCDS45160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1	1	0	1	19	111	0	33	1	1	52	161	0	33	2		0	0	0	0	0	2	1	9.999940e-01	19	110	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998794	0.990000	1	9.900000e-01	1
CCNK	8812	broad.mit.edu	37	14	99976659	99976659	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99976659A>G	ENST00000389879.5	+	11	1406	c.1283A>G	c.(1282-1284)tAc>tGc	p.Y428C	CCNK_ENST00000555049.1_Intron|RP11-688G15.3_ENST00000557733.1_RNA	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K			6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)			CCCTCCAGCTACATGACCGGG	0.682000																								0							SO:0001583	missense			ENST00000389879.5	0	1	hg19	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294859	0.23564	.	.	ENSG00000090061	ENST00000437596;ENST00000389879	T	0.21932	1.98	3.96	3.96	0.45880	.	0.313205	0.31031	N	0.008392	T	0.24624	0.0597	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.56042	0.79	T	0.02365	-1.1170	10	0.44086	T	0.13	-6.2002	13.0066	0.58707	1.0:0.0:0.0:0.0	.	428	O75909	CCNK_HUMAN	C	448;428	ENSP00000374529:Y428C	ENSP00000374529:Y428C	Y	+	2	0	CCNK	99046412	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	8.145000	0.89625	1.665000	0.50811	0.397000	0.26171	TAC		TCGA-IB-7651-01A-11D-2154-08	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1	0	0	0	5	45	0	11	1	9.664802e-01	14	47	0	11	2		0	0	0	0	0	2	1	9.341555e-01	5	43	0	11	2								-10.769270	1	1	0	0		1	0	1	1	1.986586	0	0.170000	2.060000	1.664574e-01	0.990000	0.460000	1.000000	1.000000	0.912691	0.990000	1	7.500000e-01	1
MEF2A	4205	broad.mit.edu	37	15	100211654	100211654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100211654G>T	ENST00000557785.1	+	5	734	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	MEF2A_ENST00000338042.6_Missense_Mutation_p.G129C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000557942.1_Missense_Mutation_p.G129C	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A			12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)		TTTCAAACGAGGCCCTGTAAG	0.388000																								0							SO:0001583	missense			ENST00000557785.1	1	1	hg19	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388376	0.61956	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.62941	-0.01;-0.01;-0.01	5.4	5.4	0.78164	.	.	.	.	.	T	0.53948	0.1828	N	0.01352	-0.895	0.34472	D	0.702941	D;D;B;P	0.62365	0.965;0.991;0.001;0.931	P;P;B;P	0.62298	0.855;0.9;0.004;0.671	T	0.71217	-0.4658	9	0.37606	T	0.19	.	19.5293	0.95222	0.0:0.0:1.0:0.0	.	61;50;129;129	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	C	129;129;61	ENSP00000404110:G129C;ENSP00000337202:G129C;ENSP00000399460:G61C	ENSP00000337202:G129C	G	+	1	0	MEF2A	98029177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.713000	0.68415	2.694000	0.91930	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1	1	0	1	54	328	0	73	1	9.997337e-01	5	71	0	73	2		0	0	0	0	0	2	1	1	53	324	0	70	2								-3.319536	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
LYSMD4	145748	broad.mit.edu	37	15	100271942	100271942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100271942G>A	ENST00000409796.1	-	2	325	c.263C>T	c.(262-264)gCg>gTg	p.A88V	LYSMD4_ENST00000344791.2_Missense_Mutation_p.R59C|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4			10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		ATACTGCAGCGCCAGCTTGTT	0.667000																								0							SO:0001583	missense			ENST00000409796.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.153457|5.153457	0.94645|0.94645	.|.	.|.	ENSG00000183060|ENSG00000183060	ENST00000409796;ENST00000332728|ENST00000344791;ENST00000450512	T;T|T;T	0.57595|0.19105	0.39;0.39|2.17;2.17	5.03|5.03	5.03|5.03	0.67393|0.67393	Peptidoglycan-binding Lysin subgroup (1);|.	.|4.488390	.|0.00732	.|N	.|0.000950	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.52842	1.0|0.956	D|B	0.79784|0.39152	0.993|0.292	T|T	0.49437|0.49437	-0.8940|-0.8940	9|10	0.87932|0.72032	D|D	0|0.01	-23.904|-23.904	18.3844|18.3844	0.90462|0.90462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	88|59	Q5XG99|Q5XG99-2	LYSM4_HUMAN|.	V|C	88|59	ENSP00000386283:A88V;ENSP00000333008:A88V|ENSP00000342840:R59C;ENSP00000400054:R59C	ENSP00000333008:A88V|ENSP00000342840:R59C	A|R	-|-	2|1	0|0	LYSMD4|LYSMD4	98089465|98089465	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.996000|0.996000	0.88848|0.88848	8.816000|8.816000	0.91979|0.91979	2.325000|2.325000	0.78763|0.78763	0.655000|0.655000	0.94253|0.94253	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	1	0	1	43	392	0	78	1	6.327713e-01	3	18	0	78	2		0	0	0	0	0	2	1	1	43	388	0	78	2								-3.075755	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.850000	1.000000	1.000000	0.987876	0.990000	1	9.900000e-01	1
ADAMTS17	170691	broad.mit.edu	37	15	100514630	100514630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100514630G>A	ENST00000268070.4	-	22	3370	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CTD-3076O17.2_ENST00000559400.1_RNA|CTD-3076O17.1_ENST00000528696.3_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	p.R1089C(1)		50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		GGTGGCTGGCGCATCTTGTTT	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000268070.4	1	1	hg19	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329595	0.95733	.	.	ENSG00000140470	ENST00000268070	T	0.62788	0.0	5.7	5.7	0.88788	.	0.355468	0.27482	N	0.019170	T	0.49440	0.1557	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.59225	-0.7494	10	0.56958	D	0.05	.	19.8288	0.96627	0.0:0.0:1.0:0.0	.	1089	Q8TE56	ATS17_HUMAN	C	1089	ENSP00000268070:R1089C	ENSP00000268070:R1089C	R	-	1	0	ADAMTS17	98332153	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.006000	0.76329	2.679000	0.91253	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	0	0	0	14	467	0	90	0	0	0	1	0	90	2		0	0	0	0	0	2	1	9.997349e-01	14	460	0	90	2								-3.073149	1	1	121412	5	40	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.340000	0.190000	0.540000	0.340000	0.360031	0.340000	0	2.600000e-01	4.500000e-01
ADAMTS17	170691	broad.mit.edu	37	15	100591811	100591811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100591811G>A	ENST00000268070.4	-	17	2526	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17			50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		CTTCCCAGCCGCTGTGGGTCC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000268070.4	1	1	hg19	CCDS10383.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	1	0	0	181	832	0	208	0	3.223353e-02	1	1	0	208	2		0	0	0	0	0	2	1	1	179	812	0	204	2								-20.000000	1	1	121412	4	42	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS17	170691	broad.mit.edu	37	15	100636586	100636586	+	Silent	SNP	G	G	A	rs4965583	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100636586G>A	ENST00000268070.4	-	15	2217	c.2112C>T	c.(2110-2112)ggC>ggT	p.G704G		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17			50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		GGCTGAAGTCGCCCTTCACCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000268070.4	1	0	hg19	CCDS10383.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	0	0	1	198	924	0	210	0	0	0	1	0	210	2		0	0	0	0	0	2	1	1	193	907	1	206	19								-2.007498	0	1	121410	22757	79	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS17	170691	broad.mit.edu	37	15	100739611	100739611	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100739611C>A	ENST00000268070.4	-	8	1198	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17			50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		CTGCACACACCTCCTAAGTAA	0.522000																								0							SO:0001583	missense			ENST00000268070.4	1	1	hg19	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638920	0.87760	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.89343	-2.5	5.55	5.55	0.83447	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	19.5283	0.95215	0.0:1.0:0.0:0.0	.	122;365	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	C	365;122	ENSP00000268070:G365C	ENSP00000268070:G365C	G	-	1	0	ADAMTS17	98557134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.918000	0.75788	2.596000	0.87737	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	1	0	1	123	540	0	166	0	3.499740e-02	0	2	0	166	2		0	0	0	0	0	2	1	1	119	530	0	163	2								-3.230969	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS17	170691	broad.mit.edu	37	15	100821525	100821525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100821525G>A	ENST00000268070.4	-	4	803	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17			50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		GGTCTCCACCGTGTGCTCGCT	0.627000																								0							SO:0001583	missense			ENST00000268070.4	1	1	hg19	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032945	0.75504	.	.	ENSG00000140470	ENST00000268070	D	0.87491	-2.26	4.89	4.89	0.63831	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.062019	0.64402	D	0.000009	D	0.90796	0.7110	L	0.46157	1.445	0.58432	D	0.999992	D	0.89917	1.0	D	0.68621	0.959	D	0.89864	0.4018	10	0.35671	T	0.21	.	18.0645	0.89387	0.0:0.0:1.0:0.0	.	233	Q8TE56	ATS17_HUMAN	M	233	ENSP00000268070:T233M	ENSP00000268070:T233M	T	-	2	0	ADAMTS17	98639048	1.000000	0.71417	0.298000	0.25002	0.984000	0.73092	5.800000	0.69108	2.259000	0.74868	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	0	0	1	92	288	1	67	0	5.975148e-02	0	2	1	67	2		0	0	0	0	0	2	1	1	88	284	1	66	19								-20.000000	1	1	121386	1	34	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH1A3	220	broad.mit.edu	37	15	101448629	101448629	+	Missense_Mutation	SNP	G	G	A	rs147752643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101448629G>A	ENST00000329841.5	+	12	1940	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3			27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)	Vitamin A(DB00162)	CTGCTACAACGCCCTCTATGC	0.512000																								0							SO:0001583	missense			ENST00000329841.5	1	1	hg19	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280781	0.59758	0.0	5.81E-4	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.14640	2.49	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050216	0.85682	D	0.000000	T	0.20495	0.0493	N	0.16833	0.445	0.58432	D	0.999999	D;P	0.71674	0.998;0.927	D;B	0.66084	0.941;0.184	T	0.03278	-1.1053	10	0.42905	T	0.14	.	14.5249	0.67881	0.0:0.0:0.853:0.147	.	374;470	Q7Z3A2;P47895	.;AL1A3_HUMAN	T	470;374	ENSP00000332256:A470T	ENSP00000332256:A470T	A	+	1	0	ALDH1A3	99266152	1.000000	0.71417	0.485000	0.27403	0.340000	0.28889	5.457000	0.66672	2.430000	0.82344	0.643000	0.83706	GCC		TCGA-IB-7651-01A-11D-2154-08	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2	1	0	1	62	325	0	66	1	1	18	184	0	66	2		0	0	0	0	0	2	1	1	60	318	0	65	2								-4.818349	1	1	121412	28	46	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRK1	79705	broad.mit.edu	37	15	101523781	101523781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101523781C>T	ENST00000388948.3	+	4	669	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	LRRK1_ENST00000284395.5_Missense_Mutation_p.R77C|LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1			72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		GGAGATGGTCCGCTACCTACT	0.587000																								0							SO:0001583	missense			ENST00000388948.3	1	1	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239573	0.22711	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.67345	-0.26;-0.26;-0.26	5.7	3.65	0.41850	Ankyrin repeat-containing domain (4);	0.153474	0.40302	N	0.001139	T	0.63558	0.2521	M	0.82923	2.615	0.09310	N	0.999992	B;P	0.40931	0.019;0.733	B;B	0.28465	0.011;0.09	T	0.65055	-0.6261	10	0.87932	D	0	.	12.9465	0.58375	0.3792:0.6208:0.0:0.0	.	104;104	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	C	104;77;104	ENSP00000373600:R104C;ENSP00000284395:R77C;ENSP00000433268:R104C	ENSP00000284395:R77C	R	+	1	0	LRRK1	99341304	0.652000	0.27349	0.017000	0.16124	0.411000	0.31082	1.551000	0.36233	1.382000	0.46385	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	1	112	551	0	125	1	9.288921e-01	3	21	0	125	2		0	0	0	0	0	2	1	1	108	536	0	125	2								-2.851668	1	1	120896	4	38	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRK1	79705	broad.mit.edu	37	15	101552339	101552339	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101552339T>C	ENST00000388948.3	+	10	1767	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	LRRK1_ENST00000284395.5_Missense_Mutation_p.F467L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1			72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		CCTGGGACTTTTCCAGCTTGA	0.433000																								0							SO:0001583	missense			ENST00000388948.3	1	1	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	8.860	0.946632	0.18356	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.67698	-0.28;-0.28	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.39397	1.21	0.54753	D	0.99998	B	0.15141	0.012	B	0.14578	0.011	T	0.51849	-0.8653	10	0.11182	T	0.66	.	14.5142	0.67809	0.0:0.0:0.0:1.0	.	470	Q38SD2	LRRK1_HUMAN	L	470;467	ENSP00000373600:F470L;ENSP00000284395:F467L	ENSP00000284395:F467L	F	+	1	0	LRRK1	99369862	1.000000	0.71417	0.472000	0.27241	0.373000	0.29922	7.158000	0.77470	2.008000	0.58898	0.528000	0.53228	TTC		TCGA-IB-7651-01A-11D-2154-08	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	1	113	549	0	137	1	9.871648e-01	8	27	0	137	2		0	0	0	0	0	2	1	1	113	530	0	137	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRK1	79705	broad.mit.edu	37	15	101602803	101602803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101602803C>A	ENST00000388948.3	+	31	5181	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	LRRK1_ENST00000284395.5_Missense_Mutation_p.L1605I|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1			72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		CATCTACACCCTCAAGGGCAT	0.532000																								0							SO:0001583	missense			ENST00000388948.3	1	1	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931718	0.73442	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72505	-0.66;-0.66	5.29	4.26	0.50523	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.77698	0.4169	M	0.64997	1.995	0.38501	D	0.948239	D	0.76494	0.999	D	0.63793	0.918	T	0.79245	-0.1883	10	0.51188	T	0.08	.	9.1937	0.37215	0.0:0.8023:0.0:0.1977	.	1608	Q38SD2	LRRK1_HUMAN	I	1608;1605;299;162	ENSP00000373600:L1608I;ENSP00000284395:L1605I	ENSP00000284395:L1605I	L	+	1	0	LRRK1	99420326	0.990000	0.36364	1.000000	0.80357	0.921000	0.55340	2.479000	0.45197	2.484000	0.83849	0.491000	0.48974	CTC		TCGA-IB-7651-01A-11D-2154-08	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	1	0	1	67	329	0	92	1	9.893851e-01	9	28	0	92	2		0	0	0	0	0	2	1	1	64	320	0	91	2								-2.607855	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRK1	79705	broad.mit.edu	37	15	101605829	101605829	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101605829C>A	ENST00000388948.3	+	32	5546	c.5187C>A	c.(5185-5187)ccC>ccA	p.P1729P	LRRK1_ENST00000284395.5_Silent_p.P1726P|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1			72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		GGCTGGAGCCCTACATGGCCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000388948.3	1	1	hg19	CCDS42086.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	0	0	0	16	387	0	86	1	5.199969e-01	3	39	0	86	2		0	0	0	0	0	2	1	9.999298e-01	16	382	0	86	2								-2.968835	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.470000	0.270000	0.710000	0.460000	0.485627	0.470000	0	3.600000e-01	5.900000e-01
SNRPA1	6627	broad.mit.edu	37	15	101821938	101821938	+	Silent	SNP	G	G	A	rs151201574	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101821938G>A	ENST00000254193.6	-	9	831	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'			6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		CTCAGGACCCGTTTGTGACTG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000254193.6	1	1	hg19	CCDS10391.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	1	0	1	51	232	0	58	1	1	45	124	0	58	2		0	0	0	0	0	2	1	1	50	224	0	57	2								-3.115157	1	1	121412	68	50	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK6	5046	broad.mit.edu	37	15	101905197	101905197	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101905197A>G	ENST00000331826.7	-	12	1412	c.1413T>C	c.(1411-1413)gtT>gtC	p.V471V	PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000344273.2_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000398181.2_Intron			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6			32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		agagtgtggaaacgaacctct	0.393000																								0							SO:0001819	synonymous_variant			ENST00000331826.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PCSK6-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	5	113	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	9.360980e-01	5	111	0	34	2								-3.970135	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.520000	0.200000	1.000000	1.000000	0.555817	0.520000	0	3.300000e-01	7.700000e-01
PCSK6	5046	broad.mit.edu	37	15	101933572	101933572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101933572C>T	ENST00000348070.1	-	9	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6			32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		CAGTAGTCCCCCTCTCTCCCG	0.612000																								0							SO:0001583	missense			ENST00000348070.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.18	2.159489	0.38119	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.048919	0.85682	D	0.000000	D	0.91593	0.7344	L	0.37466	1.105	0.48762	D	0.999704	D;B;B;B;B;B;P;B;B	0.89917	1.0;0.42;0.055;0.044;0.055;0.055;0.782;0.285;0.333	D;B;B;B;B;B;B;B;B	0.97110	1.0;0.223;0.05;0.03;0.05;0.05;0.3;0.091;0.147	D	0.88946	0.3383	10	0.25106	T	0.35	-36.4737	18.9896	0.92786	0.0:1.0:0.0:0.0	.	352;257;351;352;351;351;352;352;351	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	R	351;351;256;351;351;186	ENSP00000305056:G351R;ENSP00000351193:G351R;ENSP00000344410:G351R;ENSP00000381243:G351R;ENSP00000332052:G186R	ENSP00000332052:G186R	G	-	1	0	PCSK6	99751095	0.227000	0.23707	0.997000	0.53966	0.572000	0.35998	2.255000	0.43222	2.793000	0.96121	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	55	227	0	60	1	9.968574e-01	15	24	0	60	2		0	0	0	0	0	2	1	1	55	224	0	60	2								-3.474333	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TARSL2	123283	broad.mit.edu	37	15	102211926	102211926	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102211926A>G	ENST00000335968.3	-	14	2030	c.1814T>C	c.(1813-1815)tTt>tCt	p.F605S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2			29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		CGGTTCTCCAAAGTCCATCAA	0.348000																								0							SO:0001583	missense			ENST00000335968.3	1	1	hg19	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.976726	0.53720	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	5.11	0.69529	Aminoacyl-tRNA synthetase, class II (1);	0.049922	0.85682	D	0.000000	T	0.43831	0.1265	N	0.26042	0.785	0.58432	D	0.99999	B;B	0.32338	0.365;0.167	B;B	0.31245	0.099;0.126	T	0.38286	-0.9668	9	0.31617	T	0.26	-9.3299	12.9168	0.58211	1.0:0.0:0.0:0.0	.	605;510	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	S	605;510;605	.	ENSP00000329291:F510S	F	-	2	0	TARSL2	100029449	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.820000	0.92003	1.943000	0.56356	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	1	0	1	37	176	0	55	1	9.999790e-01	24	58	0	55	2		0	0	0	0	0	2	1	1	37	170	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TARSL2	123283	broad.mit.edu	37	15	102252167	102252167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102252167G>A	ENST00000335968.3	-	5	944	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2			29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		AAGCTCCATGGCCTCCCCAAG	0.448000																								0							SO:0001583	missense			ENST00000335968.3	1	1	hg19	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472549	0.96274	.	.	ENSG00000185418	ENST00000335968;ENST00000539112	T;T	0.24538	1.85;1.85	5.38	5.38	0.77491	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.050606	0.85682	D	0.000000	T	0.54886	0.1886	M	0.93854	3.465	0.80722	D	1	P	0.51240	0.943	P	0.53224	0.721	T	0.68085	-0.5502	10	0.72032	D	0.01	-13.9248	16.6349	0.85050	0.0:0.0:1.0:0.0	.	243	A2RTX5	SYTC2_HUMAN	V	243	ENSP00000338093:A243V;ENSP00000439899:A243V	ENSP00000338093:A243V	A	-	2	0	TARSL2	100069690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.552000	0.98115	2.528000	0.85240	0.530000	0.56133	GCC		TCGA-IB-7651-01A-11D-2154-08	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	1	0	1	30	131	0	34	1	9.970285e-01	14	29	0	34	2		0	0	0	0	0	2	1	1	30	128	0	33	2								-3.513256	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
OR4N4	283694	broad.mit.edu	37	15	22382753	22382753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22382753A>G	ENST00000328795.4	+	1	372	c.281A>G	c.(280-282)tAc>tGc	p.Y94C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4			40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)		GTAATCTCCTACAGAGGCTGC	0.502000																								0							SO:0001583	missense			ENST00000328795.4	0	1	hg19	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.881	0.951543	0.18431	.	.	ENSG00000183706	ENST00000328795	T	0.00330	8.08	3.2	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.158240	0.29980	N	0.010703	T	0.00724	0.0024	M	0.89095	3.005	0.20196	N	0.999925	D	0.89917	1.0	D	0.70935	0.971	T	0.40627	-0.9553	10	0.87932	D	0	-7.8503	5.8534	0.18707	0.5674:0.0:0.0:0.4326	.	94	Q8N0Y3	OR4N4_HUMAN	C	94	ENSP00000332500:Y94C	ENSP00000332500:Y94C	Y	+	2	0	OR4N4	19884117	0.013000	0.17824	0.975000	0.42487	0.376000	0.30014	0.210000	0.17455	0.402000	0.25451	0.155000	0.16302	TAC		TCGA-IB-7651-01A-11D-2154-08	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1	0	0	0	70	401	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	58	289	0	165	2								-20.000000	1	1	121110	3	32	1	0	0	0	1.765604	1	0.170000	2.060000	0								0	0
OR4N4	283694	broad.mit.edu	37	15	22383287	22383287	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22383287C>A	ENST00000328795.4	+	1	906	c.815C>A	c.(814-816)tCt>tAt	p.S272Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	p.S272Y(1)		40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)		AAGATGGTTTCTCTCTTTCAC	0.418000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000328795.4	1	1	hg19	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	7.985	0.752023	0.15778	2.28E-4	0.0	ENSG00000183706	ENST00000328795	T	0.00274	8.35	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.153130	0.30979	N	0.008497	T	0.01029	0.0034	H	0.96633	3.855	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.11348	-1.0591	10	0.87932	D	0	-9.0549	12.2303	0.54484	0.0:1.0:0.0:0.0	.	272	Q8N0Y3	OR4N4_HUMAN	Y	272	ENSP00000332500:S272Y	ENSP00000332500:S272Y	S	+	2	0	OR4N4	19884651	0.000000	0.05858	0.997000	0.53966	0.038000	0.13279	0.779000	0.26746	1.784000	0.52394	0.404000	0.27445	TCT		TCGA-IB-7651-01A-11D-2154-08	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1	1	0	0	118	528	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	117	519	0	109	2								-20.000000	1	1	120650	5	36	1	0	0	0	1.765604	1	0.170000	2.060000	0								0	0
MKRN3	7681	broad.mit.edu	37	15	23810940	23810940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23810940C>A	ENST00000314520.3	+	1	487	c.11C>A	c.(10-12)cCt>cAt	p.P4H	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.P4H|MKRN3_ENST00000568252.1_Missense_Mutation_p.P4H	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3			61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)			ATGGAAGAGCCTGCAGCTCCC	0.647000																								0							SO:0001583	missense			ENST00000314520.3	0	1	hg19	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	3.118	-0.181086	0.06380	.	.	ENSG00000179455	ENST00000314520	T	0.30981	1.51	3.36	2.45	0.29901	.	.	.	.	.	T	0.26702	0.0653	N	0.08118	0	0.22639	N	0.998905	D;D	0.71674	0.998;0.983	P;B	0.59012	0.85;0.431	T	0.07121	-1.0789	9	0.87932	D	0	.	6.6317	0.22861	0.0:0.8687:0.0:0.1313	.	4;4	Q6NSB6;Q13064	.;MKRN3_HUMAN	H	4	ENSP00000313881:P4H	ENSP00000313881:P4H	P	+	2	0	MKRN3	21362033	0.988000	0.35896	0.969000	0.41365	0.048000	0.14542	1.612000	0.36889	0.987000	0.38709	-0.253000	0.11424	CCT		TCGA-IB-7651-01A-11D-2154-08	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	1	0	0	12	67	0	17	0	2.740139e-02	0	2	0	17	2		0	0	0	0	0	2	1	9.993713e-01	12	67	0	17	2								-19.980880	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.997092	0.990000	1	9.900000e-01	1
MKRN3	7681	broad.mit.edu	37	15	23811271	23811271	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23811271C>A	ENST00000314520.3	+	1	818	c.342C>A	c.(340-342)aaC>aaA	p.N114K	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3			61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)			AGGGGGAGAACTGTCGCTATT	0.607000																								0							SO:0001583	missense			ENST00000314520.3	1	1	hg19	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896754	0.52121	.	.	ENSG00000179455	ENST00000314520	T	0.43294	0.95	3.94	-0.124	0.13523	Zinc finger, CCCH-type (2);	0.251054	0.38005	N	0.001852	T	0.19046	0.0457	N	0.21282	0.65	0.50313	D	0.999868	B	0.33266	0.404	B	0.24848	0.056	T	0.05273	-1.0895	10	0.22706	T	0.39	.	4.5958	0.12329	0.0:0.4436:0.3527:0.2036	.	114	Q13064	MKRN3_HUMAN	K	114	ENSP00000313881:N114K	ENSP00000313881:N114K	N	+	3	2	MKRN3	21362364	0.974000	0.33945	0.990000	0.47175	0.972000	0.66771	0.082000	0.14847	-0.002000	0.14469	0.563000	0.77884	AAC		TCGA-IB-7651-01A-11D-2154-08	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	1	0	1	79	363	0	75	0	8.633070e-02	0	3	0	75	2		0	0	0	0	0	2	1	1	78	359	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKRN3	7681	broad.mit.edu	37	15	23812378	23812378	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23812378T>C	ENST00000314520.3	+	1	1925	c.1449T>C	c.(1447-1449)gaT>gaC	p.D483D	MKRN3_ENST00000568945.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3			61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)			CACTGAGAGATGAGTTACCCT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000314520.3	1	1	hg19	CCDS10013.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	1	0	0	133	612	0	136	0	0	0	1	0	136	2		0	0	0	0	0	2	1	1	129	603	0	135	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEL2	54551	broad.mit.edu	37	15	23889232	23889232	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23889232G>T	ENST00000532292.1	-	1	1943	c.1849C>A	c.(1849-1851)Ctc>Atc	p.L617I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2			7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)			CACTCTGCGAGCGCTTCAAGG	0.552000																								0							SO:0001583	missense			ENST00000532292.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	1	0	0	59	216	0	53	0	4.670204e-01	0	7	0	53	2		0	0	0	0	0	2	1	1	57	212	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEL2	54551	broad.mit.edu	37	15	23890438	23890438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23890438G>A	ENST00000532292.1	-	1	737	c.643C>T	c.(643-645)Cca>Tca	p.P215S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2			7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)			AGAGCATATGGCAGTGACTTT	0.562000																								0							SO:0001583	missense			ENST00000532292.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	1	0	0	72	305	0	79	0	9.775884e-02	0	3	0	79	2		0	0	0	0	0	2	1	1	71	288	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDN	4692	broad.mit.edu	37	15	23931896	23931896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23931896G>A	ENST00000331837.4	-	1	554	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member			39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)			AGGCTGGTTAGCCTCAGGTGC	0.627000									Prader-Willi syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Prader-Labhart-Willi syndrome	ENST00000331837.4	0	1	hg19	CCDS10014.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	0	0	0	7	242	0	52	0	8.600789e-01	1	124	0	52	2		0	0	0	0	0	2	1	9.789875e-01	7	235	0	50	2								-8.810607	1	1	121408	2	35	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.370000	0.160000	1.000000	0.330000	0.437592	0.370000	0	2.400000e-01	5.900000e-01
SNRPN	6638	broad.mit.edu	37	15	25221477	25221477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25221477C>T	ENST00000400100.1	+	9	1071	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNRPN_ENST00000444203.2_Missense_Mutation_p.R65C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	p.R61C(1)		24		all_cancers(20;9.33e-22)|Breast(32;0.000625)			GCAACCAGAGCGTGAAGAAAA	0.428000									Prader-Willi syndrome															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	Prader-Labhart-Willi syndrome	ENST00000400100.1	1	1	hg19	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885805	0.51908	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.21	1.22	0.21188	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.137297	0.48767	D	0.000174	T	0.47358	0.1441	M	0.88979	2.995	0.80722	D	1	P;P	0.34997	0.479;0.479	B;B	0.32677	0.15;0.15	T	0.45716	-0.9242	10	0.62326	D	0.03	-1.3672	5.3002	0.15773	0.1637:0.651:0.0:0.1853	.	65;61	B3KVR1;P63162	.;RSMN_HUMAN	C	61;61;61;65;61;65	ENSP00000382972:R61C;ENSP00000382970:R61C;ENSP00000382969:R61C;ENSP00000452342:R65C;ENSP00000375105:R61C;ENSP00000408767:R65C	ENSP00000375105:R61C	R	+	1	0	SNRPN	22772570	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	4.028000	0.57246	0.296000	0.22592	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	1	0	1	48	286	0	61	0	1	0	474	0	61	2		0	0	0	0	0	2	1	1	46	280	0	60	2								-19.993520	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
SNRPN	6638	broad.mit.edu	37	15	25222994	25222994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25222994G>T	ENST00000400100.1	+	11	1380	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNRPN_ENST00000444203.2_Missense_Mutation_p.A168S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNHG14_ENST00000551631.2_RNA|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N			24		all_cancers(20;9.33e-22)|Breast(32;0.000625)			TATTGCTGGAGCCCCAACACA	0.597000									Prader-Willi syndrome															0							SO:0001583	missense	Familial Cancer Database	Prader-Labhart-Willi syndrome	ENST00000400100.1	1	1	hg19	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989846	0.74589	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	3.94	3.94	0.45596	.	0.168726	0.51477	N	0.000081	T	0.58495	0.2126	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.62338	-0.6875	10	0.87932	D	0	-14.2258	14.2785	0.66196	0.0:0.0:1.0:0.0	.	168;164	B3KVR1;P63162	.;RSMN_HUMAN	S	164;164;164;168;164;168;23	ENSP00000382972:A164S;ENSP00000382970:A164S;ENSP00000382969:A164S;ENSP00000452342:A168S;ENSP00000375105:A164S;ENSP00000408767:A168S	ENSP00000306223:A23S	A	+	1	0	SNRPN;SNURF	22774087	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.292000	0.89930	2.482000	0.83794	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	1	0	1	39	151	0	40	1	1	89	268	0	40	2		0	0	0	0	0	2	1	1	37	146	0	40	2								-20.000000	1	1	120894	3	33	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBE3A	7337	broad.mit.edu	37	15	25601996	25601996	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25601996A>G	ENST00000397954.2	-	6	1809	c.1810T>C	c.(1810-1812)Tct>Cct	p.S604P	UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P|UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|UBE3A_ENST00000232165.3_Missense_Mutation_p.S601P|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A			38		all_cancers(20;3.47e-21)|Breast(32;0.00123)			TCAAAAGAAGATGGATTAAAC	0.313000																								0							SO:0001583	missense			ENST00000397954.2	0	1	hg19	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939995	0.92526	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.71	5.71	0.89125	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	L	0.50919	1.6	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.61477	0.766;0.889	T	0.61510	-0.7048	10	0.33940	T	0.23	.	15.9836	0.80130	1.0:0.0:0.0:0.0	.	601;604	Q05086-3;Q05086	.;UBE3A_HUMAN	P	601;601;604;581;581	ENSP00000232165:S601P;ENSP00000381045:S604P;ENSP00000411258:S581P;ENSP00000401265:S581P	ENSP00000232165:S601P	S	-	1	0	UBE3A	23153089	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.338000	0.96553	2.185000	0.69588	0.528000	0.53228	TCT		TCGA-IB-7651-01A-11D-2154-08	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	0	0	0	16	1024	0	226	1	6.764486e-01	3	144	0	226	2		0	0	0	0	0	2	1	9.999255e-01	16	1014	0	224	2								-3.076556	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.190000	0.100000	1.000000	0.190000	0.277294	0.190000	0	1.400000e-01	2.700000e-01
UBE3A	7337	broad.mit.edu	37	15	25605662	25605662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25605662C>T	ENST00000397954.2	-	5	1629	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|UBE3A_ENST00000232165.3_Missense_Mutation_p.A541T|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A			38		all_cancers(20;3.47e-21)|Breast(32;0.00123)			TTTTCCATAGCGATCATCTCT	0.353000																								0							SO:0001583	missense			ENST00000397954.2	1	1	hg19	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317246	0.81469	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.4	5.4	0.78164	HECT (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	L	0.51853	1.615	0.80722	D	1	D;D	0.67145	0.986;0.996	B;B	0.39738	0.288;0.308	D	0.85027	0.0915	10	0.40728	T	0.16	.	19.1816	0.93625	0.0:1.0:0.0:0.0	.	541;544	Q05086-3;Q05086	.;UBE3A_HUMAN	T	541;541;544;521;521	ENSP00000232165:A541T;ENSP00000381045:A544T;ENSP00000411258:A521T;ENSP00000401265:A521T	ENSP00000232165:A541T	A	-	1	0	UBE3A	23156755	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.927000	0.63440	2.510000	0.84645	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	1	0	1	32	150	0	32	1	9.999997e-01	16	104	0	32	2		0	0	0	0	0	2	1	1	31	149	0	32	2								-20.000000	1	1	121408	1	27	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
UBE3A	7337	broad.mit.edu	37	15	25616462	25616462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25616462C>T	ENST00000397954.2	-	4	867	c.868G>A	c.(868-870)Gta>Ata	p.V290I	UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I|UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|UBE3A_ENST00000232165.3_Missense_Mutation_p.V287I|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A			38		all_cancers(20;3.47e-21)|Breast(32;0.00123)			TTCTCCATTACGATAATGAAC	0.393000																								0							SO:0001583	missense			ENST00000397954.2	1	1	hg19	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834978	0.32421	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17854	2.25;2.25;2.26;2.26	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.33293	1	0.58432	D	0.999998	B;B	0.34313	0.448;0.004	B;B	0.25614	0.062;0.004	T	0.07481	-1.0770	10	0.21014	T	0.42	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	287;290	Q05086-3;Q05086	.;UBE3A_HUMAN	I	287;287;290;267;267	ENSP00000232165:V287I;ENSP00000381045:V290I;ENSP00000411258:V267I;ENSP00000401265:V267I	ENSP00000232165:V287I	V	-	1	0	UBE3A	23167555	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.044000	0.57361	2.779000	0.95612	0.591000	0.81541	GTA		TCGA-IB-7651-01A-11D-2154-08	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	1	0	1	47	270	0	76	1	9.999991e-01	23	99	0	76	2		0	0	0	0	0	2	1	1	47	263	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ATP10A	57194	broad.mit.edu	37	15	25959091	25959091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25959091G>A	ENST00000356865.6	-	10	2185	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A			103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)			GCCTCGTACCGCAGCTCGCGC	0.667000																								0							SO:0001583	missense			ENST00000356865.6	1	1	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199519	0.58126	.	.	ENSG00000206190	ENST00000356865	T	0.63580	-0.05	4.5	3.56	0.40772	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.86864	2.845	0.53688	D	0.999978	D	0.76494	0.999	P	0.61658	0.892	T	0.79936	-0.1593	10	0.38643	T	0.18	-30.3787	13.9862	0.64337	0.0:0.0:0.8471:0.1529	.	692	O60312	AT10A_HUMAN	W	692	ENSP00000349325:R692W	ENSP00000349325:R692W	R	-	1	2	ATP10A	23510184	1.000000	0.71417	0.997000	0.53966	0.675000	0.39556	4.994000	0.63901	1.003000	0.39130	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1	51	231	0	58	1	9.898229e-01	3	32	0	58	2		0	0	0	0	0	2	1	1	51	228	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP10A	57194	broad.mit.edu	37	15	25963453	25963453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25963453C>T	ENST00000356865.6	-	8	1568	c.1457G>A	c.(1456-1458)aGc>aAc	p.S486N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A			103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)			ACTCTGGTGGCTGCCGATGCT	0.701000																								0							SO:0001583	missense			ENST00000356865.6	1	1	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021428	0.75275	.	.	ENSG00000206190	ENST00000356865	T	0.11063	2.81	5.14	5.14	0.70334	HAD-like domain (1);	0.133177	0.64402	D	0.000002	T	0.22282	0.0537	L	0.43757	1.38	0.50313	D	0.999866	P	0.41188	0.741	P	0.53809	0.735	T	0.00636	-1.1633	10	0.33940	T	0.23	-23.9993	18.6071	0.91271	0.0:1.0:0.0:0.0	.	486	O60312	AT10A_HUMAN	N	486	ENSP00000349325:S486N	ENSP00000349325:S486N	S	-	2	0	ATP10A	23514546	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	5.742000	0.68646	2.382000	0.81193	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1	28	143	0	26	0	9.662423e-01	0	31	0	26	2		0	0	0	0	0	2	1	1	28	141	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
ATP10A	57194	broad.mit.edu	37	15	26026197	26026197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26026197C>T	ENST00000356865.6	-	2	734	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	p.R208Q(1)		103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)			CACCTGCCGCCGCTTCAGGTT	0.602000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000356865.6	1	1	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839056	0.16891	.	.	ENSG00000206190	ENST00000356865	D	0.90385	-2.66	4.67	3.67	0.42095	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121989	0.56097	D	0.000034	T	0.55862	0.1947	N	0.00082	-2.215	0.38704	D	0.953065	B	0.11235	0.004	B	0.09377	0.004	T	0.66803	-0.5831	10	0.02654	T	1	-29.3942	4.2405	0.10645	0.0:0.7173:0.0:0.2827	.	208	O60312	AT10A_HUMAN	Q	208	ENSP00000349325:R208Q	ENSP00000349325:R208Q	R	-	2	0	ATP10A	23577290	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.672000	0.54583	2.428000	0.82296	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	0	20	446	0	93	0	6.158761e-01	0	47	0	93	2		0	0	0	0	0	2	1	9.999941e-01	18	435	0	92	2								-3.162972	1	1	121412	15	43	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.530000	0.320000	1.000000	0.510000	0.577634	0.530000	0	4.100000e-01	7.100000e-01
GABRB3	2562	broad.mit.edu	37	15	26806166	26806166	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26806166G>T	ENST00000311550.5	-	8	1104	c.993C>A	c.(991-993)ttC>ttA	p.F331L	GABRB3_ENST00000541819.2_Missense_Mutation_p.F387L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3			68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCTTCCAAAGAAAATGTAGT	0.483000																								0							SO:0001583	missense			ENST00000311550.5	1	1	hg19	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226466	0.79576	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.19	3.28	0.37604	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.55743	1.74	0.80722	D	1	P;P;P	0.46457	0.878;0.717;0.76	B;B;B	0.42245	0.381;0.187;0.378	T	0.82271	-0.0540	10	0.62326	D	0.03	.	11.1972	0.48719	0.1517:0.0:0.8483:0.0	.	387;331;331	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	331;387;331;260;246	ENSP00000308725:F331L;ENSP00000442408:F387L;ENSP00000299267:F331L;ENSP00000383049:F260L;ENSP00000439169:F246L	ENSP00000299267:F331L	F	-	3	2	GABRB3	24357259	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.896000	0.56266	1.174000	0.42811	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	1	89	440	0	110	1	9.031453e-01	15	7	0	110	2		0	0	0	0	0	2	1	1	89	432	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRB3	2562	broad.mit.edu	37	15	26866564	26866564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26866564C>T	ENST00000311550.5	-	4	469	c.358G>A	c.(358-360)Gac>Aac	p.D120N	GABRB3_ENST00000541819.2_Missense_Mutation_p.D176N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	p.D120Y(1)		68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAATATGTGTCGGGCACCCAT	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000311550.5	1	1	hg19	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652241	0.96724	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94638	0.7828	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	176;120;120	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	120;176;120;49;35;35	ENSP00000308725:D120N;ENSP00000442408:D176N;ENSP00000299267:D120N;ENSP00000383049:D49N;ENSP00000439169:D35N;ENSP00000452272:D35N	ENSP00000299267:D120N	D	-	1	0	GABRB3	24417657	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	GAC		TCGA-IB-7651-01A-11D-2154-08	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	1	82	373	0	94	1	7.473623e-01	4	10	0	94	2		0	0	0	0	0	2	1	1	82	367	0	94	2								-3.148413	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRB3	2562	broad.mit.edu	37	15	27017577	27017577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27017577C>A	ENST00000311550.5	-	3	323	c.212G>T	c.(211-213)aGc>aTc	p.S71I	GABRB3_ENST00000541819.2_Missense_Mutation_p.S127I|GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I|GABRB3_ENST00000557641.1_5'UTR	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3			68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATGTCGATGCTGGCGATGTC	0.692000																								0							SO:0001583	missense			ENST00000311550.5	1	1	hg19	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934442	0.73442	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267	T;T;T	0.80738	-1.41;-1.41;-1.41	4.57	4.57	0.56435	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091921	0.85682	D	0.000000	D	0.92977	0.7765	H	0.97240	3.965	0.80722	D	1	D;P;D	0.65815	0.995;0.917;0.993	D;P;D	0.67900	0.917;0.813;0.954	D	0.95584	0.8649	10	0.87932	D	0	.	15.9295	0.79648	0.0:1.0:0.0:0.0	.	127;71;71	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	71;127;71	ENSP00000308725:S71I;ENSP00000442408:S127I;ENSP00000299267:S71I	ENSP00000299267:S71I	S	-	2	0	GABRB3	24568670	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.560000	0.73950	2.063000	0.61619	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	1	0	0	16	71	0	17	0	3.230721e-01	0	6	0	17	2		0	0	0	0	0	2	1	9.999547e-01	16	69	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999780	0.990000	1	9.900000e-01	1
GABRA5	2558	broad.mit.edu	37	15	27114471	27114471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27114471A>G	ENST00000335625.5	+	3	964	c.76A>G	c.(76-78)Agt>Ggt	p.S26G	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5			49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GAACTTATCCAGTCACTTTGG	0.393000																								0							SO:0001583	missense			ENST00000335625.5	1	1	hg19	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776450	0.49786	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000557484;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.80653	-0.55;-0.55;-0.55;-1.08;-1.08;-1.4	5.82	5.82	0.92795	.	0.343920	0.32134	N	0.006526	T	0.62405	0.2425	N	0.08118	0	0.34251	D	0.67878	B	0.02656	0.0	B	0.01281	0.0	T	0.64896	-0.6299	10	0.17832	T	0.49	.	12.5835	0.56403	1.0:0.0:0.0:0.0	.	26	P31644	GBRA5_HUMAN	G	26	ENSP00000335592:S26G;ENSP00000347557:S26G;ENSP00000382953:S26G;ENSP00000451527:S26G;ENSP00000450806:S26G;ENSP00000450717:S26G	ENSP00000335592:S26G	S	+	1	0	GABRA5	24665564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.530000	0.53539	2.216000	0.71823	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1	1	0	1	71	310	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	71	306	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRA5	2558	broad.mit.edu	37	15	27128536	27128536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27128536G>A	ENST00000335625.5	+	6	1217	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5			49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GAAAGGCTTCGGTTTAAGGGG	0.562000																								0							SO:0001583	missense			ENST00000335625.5	1	1	hg19	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651070	0.47362	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.4	3.39	0.38822	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101513	0.64402	N	0.000002	T	0.59715	0.2214	N	0.13098	0.295	0.35436	D	0.794458	B	0.06786	0.001	B	0.08055	0.003	T	0.59968	-0.7354	10	0.62326	D	0.03	.	8.0138	0.30368	0.2683:0.0:0.7317:0.0	.	110	P31644	GBRA5_HUMAN	Q	110;110;78;110;110;110;78	ENSP00000335592:R110Q;ENSP00000347557:R110Q;ENSP00000450653:R78Q;ENSP00000382953:R110Q;ENSP00000450806:R110Q;ENSP00000450717:R110Q;ENSP00000450529:R78Q	ENSP00000335592:R110Q	R	+	2	0	GABRA5	24679629	0.033000	0.19621	0.919000	0.36401	0.646000	0.38490	1.164000	0.31810	0.655000	0.30866	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1	1	0	0	27	651	1	121		0	0	0	1	121	2		0	0	0	0	0	2	1	1	28	647	0	119	2								-2.459638	0	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.480000	0.320000	1.000000	0.470000	0.540003	0.480000	0	3.900000e-01	6.300000e-01
GABRA5	2558	broad.mit.edu	37	15	27188450	27188450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27188450G>A	ENST00000335625.5	+	10	1854	c.966G>A	c.(964-966)tgG>tgA	p.W322*	GABRA5_ENST00000400081.3_Nonsense_Mutation_p.W322*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.W322*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5			49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCATGGACTGGTTCATAGCCG	0.582000																								0							SO:0001587	stop_gained			ENST00000335625.5	0	1	hg19	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	-	40	8.056675	0.98632	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2599	0.90031	0.0:0.0:1.0:0.0	.	.	.	.	X	322	.	ENSP00000335592:W322X	W	+	3	0	GABRA5	24771196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.592000	0.98245	2.626000	0.88956	0.651000	0.88453	TGG		TCGA-IB-7651-01A-11D-2154-08	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1	1	0	1	12	35	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.995328e-01	12	35	0	10	2								-19.999980	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999850	0.990000	1	9.900000e-01	1
GABRG3	2567	broad.mit.edu	37	15	27572106	27572106	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27572106G>A	ENST00000333743.6	+	4	675	c.421G>A	c.(421-423)Gct>Act	p.A141T	GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3			42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACCGCAGAGGCTCACTGGAT	0.453000													NSCLC(114;800 1656 7410 37729 45293)											0							SO:0001583	missense			ENST00000333743.6	1	1	hg19	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822371	0.71028	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.77620	-1.11;-1.11;-1.11	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053250	0.85682	D	0.000000	D	0.84674	0.5524	L	0.60455	1.87	0.41409	D	0.987727	P;P	0.41978	0.767;0.725	P;P	0.54431	0.752;0.611	D	0.84862	0.0820	10	0.62326	D	0.03	.	19.0355	0.92976	0.0:0.0:1.0:0.0	.	141;141	Q99928;G3V594	GBRG3_HUMAN;.	T	141;141;83	ENSP00000331912:A141T;ENSP00000452244:A141T;ENSP00000451862:A83T	ENSP00000331912:A141T	A	+	1	0	GABRG3	25154852	1.000000	0.71417	0.995000	0.50966	0.517000	0.34286	4.933000	0.63484	2.722000	0.93159	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2	1	0	0	58	234	0	59	0	1.818283e-01	0	4	0	59	2		0	0	0	0	0	2	1	1	55	232	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28357165	28357165	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28357165T>C	ENST00000261609.7	-	93	14357	c.14249A>G	c.(14248-14250)aAc>aGc	p.N4750S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			GTCTGGAGGGTTGTATTTATC	0.473000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027429	0.75390	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	5.84	4.72	0.59763	HECT (4);	0.045918	0.85682	N	0.000000	T	0.46658	0.1404	L	0.27053	0.805	0.80722	D	1	P;B	0.49090	0.919;0.034	P;B	0.60173	0.87;0.038	T	0.40098	-0.9581	10	0.46703	T	0.11	.	11.797	0.52106	0.0:0.0683:0.0:0.9317	.	4750;439	O95714;Q8ND39	HERC2_HUMAN;.	S	4750	ENSP00000261609:N4750S	ENSP00000261609:N4750S	N	-	2	0	HERC2	26030760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.519000	0.53458	1.039000	0.40074	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	0	33	341	0	69	1	9.986239e-01	14	92	0	69	2		0	0	0	0	0	2	1	1	32	332	0	66	2								-20.000000	1	1	121408	2	35	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.740000	1.000000	1.000000	0.963168	0.990000	1	8.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28358303	28358303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358303G>A	ENST00000261609.7	-	92	14254	c.14146C>T	c.(14146-14148)Cgc>Tgc	p.R4716C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			AAAAGAGAGCGCTCTGTGTTG	0.607000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574110	0.86542	.	.	ENSG00000128731	ENST00000261609	T	0.54071	0.59	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.964;0.987	D	0.86189	0.1611	10	0.87932	D	0	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	4716;405	O95714;Q8ND39	HERC2_HUMAN;.	C	4716	ENSP00000261609:R4716C	ENSP00000261609:R4716C	R	-	1	0	HERC2	26031898	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.274000	0.58921	2.331000	0.79229	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1	68	258	0	49	1	9.999971e-01	21	53	0	49	2		0	0	0	0	0	2	1	1	67	254	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28358723	28358723	+	Missense_Mutation	SNP	G	G	A	rs144912188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358723G>A	ENST00000261609.7	-	91	14123	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			GCATACCATCGTCTCCAGTTC	0.582000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712289	0.68730	0.0	1.16E-4	ENSG00000128731	ENST00000261609	T	0.58797	0.31	5.33	5.33	0.75918	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	L	0.49640	1.575	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64144	0.788;0.922	T	0.73307	-0.4024	10	0.72032	D	0.01	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	4672;361	O95714;Q8ND39	HERC2_HUMAN;.	M	4672	ENSP00000261609:T4672M	ENSP00000261609:T4672M	T	-	2	0	HERC2	26032318	1.000000	0.71417	0.954000	0.39281	0.172000	0.22775	9.801000	0.99128	2.503000	0.84419	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1	40	206	0	34	1	9.999832e-01	15	74	0	34	2		0	0	0	0	0	2	1	1	39	205	0	33	2								-20.000000	1	1	121412	12	42	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28360609	28360609	+	Missense_Mutation	SNP	G	G	T	rs28548731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28360609G>T	ENST00000261609.7	-	89	13796	c.13688C>A	c.(13687-13689)gCt>gAt	p.A4563D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			GCTCATCCCAGCCAGCTGCTT	0.612000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687309	0.96784	.	.	ENSG00000128731	ENST00000261609	T	0.58506	0.33	5.56	5.56	0.83823	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72982	0.979;0.972	T	0.81004	-0.1129	10	0.87932	D	0	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	4563;252	O95714;Q8ND39	HERC2_HUMAN;.	D	4563	ENSP00000261609:A4563D	ENSP00000261609:A4563D	A	-	2	0	HERC2	26034204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.601000	0.87937	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	0	40	183	0	38	1	9.999903e-01	29	55	0	38	2		0	0	0	0	0	2	1	1	36	167	0	27	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28377840	28377840	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28377840G>T	ENST00000261609.7	-	80	12475	c.12367C>A	c.(12367-12369)Ctg>Atg	p.L4123M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			CTGTGCCCCAGCCGGCCGTAG	0.647000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677307	0.68042	.	.	ENSG00000128731	ENST00000261609	D	0.97161	-4.27	4.86	3.94	0.45596	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.167980	0.38381	N	0.001718	D	0.99032	0.9669	H	0.98446	4.235	0.58432	D	0.999999	P	0.51351	0.944	D	0.68353	0.957	D	0.98968	1.0800	10	0.87932	D	0	.	13.7802	0.63079	0.0755:0.0:0.9245:0.0	.	4123	O95714	HERC2_HUMAN	M	4123	ENSP00000261609:L4123M	ENSP00000261609:L4123M	L	-	1	2	HERC2	26051435	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	4.856000	0.62932	1.168000	0.42723	0.555000	0.69702	CTG		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1	109	398	0	113	1	9.999888e-01	22	40	0	113	2		0	0	0	0	0	2	1	1	106	392	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28413705	28413705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28413705C>T	ENST00000261609.7	-	67	10369	c.10261G>A	c.(10261-10263)Gcc>Acc	p.A3421T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			GCGATCATGGCGGCCGGCATC	0.632000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640486	0.29157	.	.	ENSG00000128731	ENST00000261609	T	0.37584	1.19	5.46	0.624	0.17659	.	0.137592	0.64402	D	0.000006	T	0.13927	0.0337	N	0.03608	-0.345	0.24273	N	0.995238	B	0.24426	0.103	B	0.19666	0.026	T	0.18461	-1.0336	10	0.38643	T	0.18	.	7.3517	0.26695	0.0:0.3306:0.0:0.6694	.	3421	O95714	HERC2_HUMAN	T	3421	ENSP00000261609:A3421T	ENSP00000261609:A3421T	A	-	1	0	HERC2	26087300	0.977000	0.34250	0.327000	0.25402	0.051000	0.14879	2.057000	0.41365	0.293000	0.22520	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	0	78	316	0	47	1	9.981873e-01	10	31	0	47	2		0	0	0	0	0	2	1	1	77	311	0	47	2								-20.000000	1	1	121408	10	42	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28446601	28446601	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28446601C>T	ENST00000261609.7	-	48	7825		c.e48+1			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			CAATTACTCACCTGAATATTC	0.433000																								0							SO:0001630	splice_region_variant			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	-	23.4	4.411424	0.83340	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6662	0.91491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26120196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.629000	0.83207	2.577000	0.86979	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1	73	313	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	68	306	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28463640	28463640	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28463640T>G	ENST00000261609.7	-	38	6131	c.6023A>C	c.(6022-6024)aAg>aCg	p.K2008T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			CATACATGTCTTGTCCGTCGT	0.557000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	9.983	1.228679	0.22542	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	4.4	3.25	0.37280	.	0.110120	0.64402	N	0.000015	T	0.28962	0.0719	L	0.33485	1.01	0.58432	D	0.999999	B	0.18741	0.03	B	0.15052	0.012	T	0.05616	-1.0874	10	0.15952	T	0.53	.	11.3329	0.49487	0.0:0.0:0.1525:0.8475	.	2008	O95714	HERC2_HUMAN	T	2008	ENSP00000261609:K2008T	ENSP00000261609:K2008T	K	-	2	0	HERC2	26137235	1.000000	0.71417	0.984000	0.44739	0.404000	0.30871	3.061000	0.49963	0.805000	0.34159	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	0	93	410	0	97	1	7.609765e-01	3	11	0	97	2		0	0	0	0	0	2	1	1	65	291	0	124	2								-20.000000	1	0	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28473421	28473421	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28473421C>T	ENST00000261609.7	-	35	5515	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			AGCAGAAGGTCGAGGTTGTTT	0.612000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	2.286	-0.363679	0.05103	.	.	ENSG00000128731	ENST00000261609	T	0.37411	1.2	4.21	0.74	0.18330	.	0.334862	0.33875	N	0.004471	T	0.10208	0.0250	N	0.02011	-0.69	0.27090	N	0.962869	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.05525	T	0.97	.	7.4641	0.27312	0.0:0.2304:0.0:0.7696	.	1803	O95714	HERC2_HUMAN	N	1803	ENSP00000261609:D1803N	ENSP00000261609:D1803N	D	-	1	0	HERC2	26147016	1.000000	0.71417	0.888000	0.34837	0.289000	0.27227	2.211000	0.42825	0.065000	0.16485	-0.234000	0.12200	GAC		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	0	15	209	0	31	1	6.197053e-01	2	28	0	31	2		0	0	0	0	0	2	1	9.998722e-01	14	206	0	31	2								-3.319401	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.830000	0.480000	1.000000	1.000000	0.822077	0.830000	0	6.300000e-01	1
HERC2	8924	broad.mit.edu	37	15	28510844	28510844	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510844A>G	ENST00000261609.7	-	14	1898	c.1790T>C	c.(1789-1791)gTa>gCa	p.V597A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			AAGCCCGGCTACCAGCATCGG	0.572000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083169	0.94050	.	.	ENSG00000128731	ENST00000261609	D	0.88277	-2.36	5.44	5.44	0.79542	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95714	0.8606	M	0.92122	3.275	0.80722	D	1	D	0.62365	0.991	D	0.80764	0.994	D	0.96716	0.9529	10	0.87932	D	0	.	15.8418	0.78852	1.0:0.0:0.0:0.0	.	597	O95714	HERC2_HUMAN	A	597	ENSP00000261609:V597A	ENSP00000261609:V597A	V	-	2	0	HERC2	26184439	1.000000	0.71417	0.990000	0.47175	0.950000	0.60333	8.806000	0.91930	2.202000	0.70862	0.491000	0.48974	GTA		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1	72	347	0	84	1	8.381828e-01	6	12	0	84	2		0	0	0	0	0	2	1	1	71	343	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28510973	28510973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510973C>T	ENST00000261609.7	-	13	1854	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			CATGGCCCAGCCGGCCGTAGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000261609.7	1	1	hg19	CCDS10021.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1	56	273	0	64	1	9.832830e-01	9	25	0	64	2		0	0	0	0	0	2	1	1	54	268	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28514426	28514426	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28514426C>T	ENST00000261609.7	-	11	1522	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			TGTGTGTACACGCGGCCATTG	0.557000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272161	0.40194	.	.	ENSG00000128731	ENST00000261609	D	0.85171	-1.95	5.74	5.74	0.90152	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.065567	0.64402	D	0.000013	T	0.80874	0.4707	L	0.59912	1.85	0.51482	D	0.999924	P	0.47910	0.902	B	0.33521	0.165	D	0.84544	0.0640	10	0.87932	D	0	.	15.4685	0.75422	0.0:0.862:0.138:0.0	.	472	O95714	HERC2_HUMAN	M	472	ENSP00000261609:V472M	ENSP00000261609:V472M	V	-	1	0	HERC2	26188021	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.492000	0.66893	2.718000	0.92993	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	1	0	1	17	123	0	25	0	4.551443e-01	1	11	0	25	2		0	0	0	0	0	2	1	9.999688e-01	16	120	0	25	2								-20.000000	1	1	121410	1	24	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.890000	1.000000	1.000000	0.994025	0.990000	1	9.900000e-01	1
APBA2	321	broad.mit.edu	37	15	29385310	29385310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29385310G>A	ENST00000558402.1	+	8	1701	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_Missense_Mutation_p.D368N|APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000561069.1_Missense_Mutation_p.D368N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2			59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)			AGACCTCATCGACGGGATCAT	0.537000																								0							SO:0001583	missense			ENST00000558402.1	1	1	hg19	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303623	0.81136	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.54675	0.56	5.01	5.01	0.66863	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	L	0.46157	1.445	0.80722	D	1	P;P;D;P	0.71674	0.863;0.86;0.998;0.936	B;B;P;B	0.60682	0.255;0.189;0.878;0.425	T	0.66352	-0.5945	10	0.56958	D	0.05	.	17.3238	0.87242	0.0:0.0:1.0:0.0	.	368;72;368;368	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	N	368;368;72	ENSP00000409312:D368N	ENSP00000219865:D368N	D	+	1	0	APBA2	27172602	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.569000	0.98170	2.331000	0.79229	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	1	0	0	42	437	0	90	0	4.542050e-01	0	17	0	90	2		0	0	0	0	0	2	1	1	41	433	0	90	2								-3.318794	1	1	121412	1	33	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.770000	1.000000	1.000000	0.966710	0.990000	1	9.000000e-01	1
APBA2	321	broad.mit.edu	37	15	29393844	29393844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29393844G>A	ENST00000558402.1	+	11	1980	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	APBA2_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000558259.1_Missense_Mutation_p.A461T|APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2			59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)			CTCCTACATCGCCGACATTGG	0.587000																								0							SO:0001583	missense			ENST00000558402.1	1	1	hg19	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312706	0.95655	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.32272	1.46	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.130099	0.48767	D	0.000177	T	0.57198	0.2037	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.991;1.0;0.976;0.977	T	0.64158	-0.6473	10	0.87932	D	0	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	449;153;449;461	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	T	449;461;153	ENSP00000409312:A449T	ENSP00000219865:A461T	A	+	1	0	APBA2	27181136	1.000000	0.71417	0.606000	0.28943	0.985000	0.73830	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	1	0	1	21	108	0	29	0	8.537824e-01	0	20	0	29	2		0	0	0	0	0	2	1	9.999986e-01	21	107	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999843	0.990000	1	9.900000e-01	1
NDNL2	56160	broad.mit.edu	37	15	29561540	29561540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29561540G>A	ENST00000332303.4	-	1	493	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2			8		all_lung(180;4.69e-11)|Breast(32;0.0013)			AAGAGGTCGGGGAAGATGTCC	0.532000																								0							SO:0001583	missense			ENST00000332303.4	1	1	hg19	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.826058	0.16749	.	.	ENSG00000185115	ENST00000332303	T	0.05199	3.48	3.8	0.771	0.18504	.	0.307886	0.30704	U	0.009044	T	0.10508	0.0257	L	0.59436	1.845	0.09310	N	0.999996	P	0.41498	0.752	P	0.51016	0.656	T	0.09164	-1.0687	10	0.48119	T	0.1	.	3.9345	0.09299	0.2245:0.1991:0.5764:0.0	.	124	Q96MG7	MAGG1_HUMAN	S	124	ENSP00000330694:P124S	ENSP00000330694:P124S	P	-	1	0	NDNL2	27348832	0.785000	0.28726	0.005000	0.12908	0.255000	0.26057	0.330000	0.19715	0.169000	0.19679	-0.251000	0.11542	CCC		TCGA-IB-7651-01A-11D-2154-08	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	1	0	1	86	482	0	88	1	1	29	119	0	88	2		0	0	0	0	0	2	1	1	85	472	0	85	2								-2.842369	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP1	7082	broad.mit.edu	37	15	30003138	30003138	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30003138C>A	ENST00000346128.6	-	24	4743	c.4269G>T	c.(4267-4269)caG>caT	p.Q1423H	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1			68		all_lung(180;7.48e-11)|Breast(32;0.000153)			GGGGAGTGGCCTGGATGGGTT	0.527000													Melanoma(77;681 1843 6309 6570)											0							SO:0001583	missense			ENST00000346128.6	1	1	hg19	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395094	0.42512	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.42131	0.98;0.98	5.62	3.53	0.40419	.	0.201017	0.47093	D	0.000248	T	0.52549	0.1741	L	0.54323	1.7	0.21355	N	0.999712	D;D;P;D	0.65815	0.992;0.988;0.956;0.995	P;P;P;D	0.77004	0.838;0.847;0.564;0.989	T	0.38067	-0.9678	10	0.66056	D	0.02	.	5.0942	0.14725	0.2127:0.5753:0.0:0.212	.	1416;1343;1423;1347	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1423;1347;1423;1343;1343	ENSP00000281537:Q1423H;ENSP00000382890:Q1347H	ENSP00000281537:Q1423H	Q	-	3	2	TJP1	27790430	1.000000	0.71417	0.631000	0.29282	0.413000	0.31143	1.573000	0.36472	1.379000	0.46325	-0.136000	0.14681	CAG		TCGA-IB-7651-01A-11D-2154-08	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	1	0	1	166	757	0	159	1	1	53	152	0	159	2		0	0	0	0	0	2	1	1	156	732	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP1	7082	broad.mit.edu	37	15	30010931	30010931	+	Missense_Mutation	SNP	A	A	G	rs141258029	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30010931A>G	ENST00000346128.6	-	21	3889	c.3415T>C	c.(3415-3417)Tct>Cct	p.S1139P	TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P|TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1			68		all_lung(180;7.48e-11)|Breast(32;0.000153)			CTGTCGTAAGACAGAGGGGCT	0.537000													Melanoma(77;681 1843 6309 6570)											0							SO:0001583	missense			ENST00000346128.6	1	1	hg19	CCDS42007.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	13.50	2.254561	0.39896	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.08008	3.14;3.25	5.93	-2.63	0.06133	.	0.565561	0.20714	N	0.087029	T	0.06600	0.0169	L	0.56769	1.78	0.25561	N	0.986993	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.39692	T	0.17	.	2.7068	0.05164	0.2688:0.3544:0.2722:0.1047	.	1132;1059;1139;1063	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	P	1139;1063;1139;1059;1059	ENSP00000281537:S1139P;ENSP00000382890:S1063P	ENSP00000281537:S1139P	S	-	1	0	TJP1	27798223	0.966000	0.33281	0.010000	0.14722	0.859000	0.49053	0.557000	0.23454	-0.367000	0.08052	0.460000	0.39030	TCT		TCGA-IB-7651-01A-11D-2154-08	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	1	0	1	129	650	0	167	1	1	44	127	0	167	2		0	0	0	0	0	2	1	1	123	626	0	165	2								-20.000000	1	0	121068	1	34	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP1	7082	broad.mit.edu	37	15	30011019	30011019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30011019C>A	ENST00000346128.6	-	21	3801	c.3327G>T	c.(3325-3327)caG>caT	p.Q1109H	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1			68		all_lung(180;7.48e-11)|Breast(32;0.000153)			CTTGAGAGTGCTGATTATCAA	0.498000													Melanoma(77;681 1843 6309 6570)											0							SO:0001583	missense			ENST00000346128.6	1	1	hg19	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042766	0.75732	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.07216	3.21;3.27	6.06	3.13	0.36017	.	0.270402	0.43416	N	0.000561	T	0.14700	0.0355	L	0.58101	1.795	0.80722	D	1	D;D;D;B	0.62365	0.991;0.975;0.966;0.001	P;P;P;B	0.54140	0.646;0.743;0.641;0.007	T	0.01108	-1.1449	10	0.52906	T	0.07	.	6.8109	0.23805	0.0:0.6724:0.1273:0.2003	.	1102;1029;1109;1033	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	H	1109;1033;1109;1029;1029	ENSP00000281537:Q1109H;ENSP00000382890:Q1033H	ENSP00000281537:Q1109H	Q	-	3	2	TJP1	27798311	0.999000	0.42202	0.988000	0.46212	0.959000	0.62525	0.657000	0.24963	0.424000	0.26061	-0.140000	0.14226	CAG		TCGA-IB-7651-01A-11D-2154-08	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	0	0	1	120	612	1	145	1	1	53	150	1	145	7		0	0	0	0	0	2	1	1	119	600	1	145	17								-20.000000	1	0	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP1	7082	broad.mit.edu	37	15	30012008	30012008	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30012008T>C	ENST00000346128.6	-	20	3450	c.2976A>G	c.(2974-2976)tcA>tcG	p.S992S	TJP1_ENST00000356107.6_Silent_p.S992S|TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1			68		all_lung(180;7.48e-11)|Breast(32;0.000153)			GCGACGACAATGATGGTTCTT	0.463000													Melanoma(77;681 1843 6309 6570)											0							SO:0001819	synonymous_variant			ENST00000346128.6	1	1	hg19	CCDS42007.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	1	0	1	114	541	0	145	1	9.999985e-01	32	59	0	145	2		0	0	0	0	0	2	1	1	110	530	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP1	7082	broad.mit.edu	37	15	30065561	30065561	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30065561C>A	ENST00000346128.6	-	3	559		c.e3-1		TJP1_ENST00000356107.6_Splice_Site|TJP1_ENST00000545208.2_Splice_Site|TJP1_ENST00000495972.2_Splice_Site|TJP1_ENST00000400011.2_Splice_Site	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1			68		all_lung(180;7.48e-11)|Breast(32;0.000153)			ATCCAGGAGCCTAAAGTAAAA	0.318000													Melanoma(77;681 1843 6309 6570)											0							SO:0001630	splice_region_variant			ENST00000346128.6	1	1	hg19	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274696	0.40194	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7625	0.96325	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TJP1	27852853	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	7.701000	0.84566	2.749000	0.94314	0.585000	0.79938	.		TCGA-IB-7651-01A-11D-2154-08	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	1	0	1	50	287	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	49	281	0	100	2								-19.999830	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CHRFAM7A	89832	broad.mit.edu	37	15	30659671	30659671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30659671C>T	ENST00000299847.2	-	9	1123	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.V133M	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion			6		all_lung(180;3.42e-11)|Breast(32;0.000153)			TACTGCAGCACGATCACCGTC	0.637000																								0							SO:0001583	missense			ENST00000299847.2	1	1	hg19	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.193467	0.78902	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.90504	-2.68;-2.68;-2.68	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.055343	0.64402	D	0.000001	D	0.96448	0.8841	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97057	0.9768	10	0.87932	D	0	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	224	Q494W8	CRFM7_HUMAN	M	224;133;133	ENSP00000299847:V224M;ENSP00000380927:V133M;ENSP00000385389:V133M	ENSP00000299847:V224M	V	-	1	0	CHRFAM7A	28446963	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.232000	0.78116	1.535000	0.49220	0.398000	0.26397	GTG		TCGA-IB-7651-01A-11D-2154-08	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	0	0	0	21	379	0	89	0	2.783195e-01	1	18	0	89	2		0	0	0	0	0	2	1	9.999971e-01	21	370	0	88	2								-3.312872	1	1	121136	1	30	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.640000	0.400000	1.000000	0.620000	0.680210	0.640000	0	5.100000e-01	8.600000e-01
ARHGAP11B	89839	broad.mit.edu	37	15	30925773	30925773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30925773G>A	ENST00000428041.2	+	3	426	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B			8		all_lung(180;2.71e-09)|Breast(32;0.00116)			TCTGTGATTCGCCTAAAAGCA	0.323000																								0							SO:0001583	missense			ENST00000428041.2	1	1	hg19	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.406947	0.42715	.	.	ENSG00000187951	ENST00000428041	T	0.20069	2.1	1.94	0.99	0.19807	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.47093	U	0.000254	T	0.39489	0.1080	M	0.76002	2.32	0.45515	D	0.998477	D	0.89917	1.0	D	0.91635	0.999	T	0.15150	-1.0447	10	0.72032	D	0.01	.	6.5968	0.22679	0.1673:0.0:0.8327:0.0	.	94	Q3KRB8	RHGBB_HUMAN	H	94	ENSP00000392760:R94H	ENSP00000392760:R94H	R	+	2	0	ARHGAP11B	28713065	1.000000	0.71417	0.978000	0.43139	0.479000	0.33129	7.878000	0.87231	0.364000	0.24374	0.384000	0.25694	CGC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	1	0	1	65	301	0	67	0	0	1	0	0	67	2		0	0	0	0	0	2	1	1	63	290	0	70	2								-20.000000	1	1	121398	2	32	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM1	4308	broad.mit.edu	37	15	31318431	31318431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318431G>A	ENST00000256552.6	-	27	3687	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.F1158F|TRPM1_ENST00000542188.1_Silent_p.F1197F|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1			99		all_lung(180;1.92e-11)			ACTGCTCCTCGAACTCATGCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000256552.6	1	1	hg19	CCDS58346.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1	39	145	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	39	145	0	47	2								-20.000000	1	0	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM1	4308	broad.mit.edu	37	15	31318444	31318444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318444C>A	ENST00000256552.6	-	27	3674	c.3527G>T	c.(3526-3528)aGg>aTg	p.R1176M	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1193M|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1			99		all_lung(180;1.92e-11)			CTCATGCAGCCTCTTTAGCTC	0.542000																								0							SO:0001583	missense			ENST00000256552.6	1	1	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082368	0.36758	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.12774	2.65;2.65;2.65	5.5	2.09	0.27110	.	0.280157	0.43260	D	0.000597	T	0.08670	0.0215	N	0.25992	0.78	0.20975	N	0.999819	B;B	0.22851	0.076;0.01	B;B	0.21917	0.037;0.011	T	0.23940	-1.0174	10	0.87932	D	0	-29.4723	5.458	0.16602	0.0:0.4423:0.0:0.5577	.	1148;1154	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	1154;1193;1176;1154	ENSP00000380897:R1154M;ENSP00000437849:R1193M;ENSP00000256552:R1176M	ENSP00000256552:R1176M	R	-	2	0	TRPM1	29105736	0.276000	0.24211	0.847000	0.33407	0.717000	0.41224	0.641000	0.24720	0.785000	0.33685	-0.194000	0.12790	AGG		TCGA-IB-7651-01A-11D-2154-08	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1	39	138	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	39	136	0	49	2								-20.000000	1	0	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM1	4308	broad.mit.edu	37	15	31323236	31323236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31323236T>C	ENST00000256552.6	-	23	3224	c.3077A>G	c.(3076-3078)tAc>tGc	p.Y1026C	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C|TRPM1_ENST00000542188.1_Missense_Mutation_p.Y1043C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1			99		all_lung(180;1.92e-11)			GTAGGGCATGTAGAAGATGTT	0.488000																								0							SO:0001583	missense			ENST00000256552.6	1	1	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448492	0.84101	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.98455	-4.94;-4.94;-4.94	6.05	6.05	0.98169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77004	0.987;0.989	D	0.99846	1.1066	10	0.87932	D	0	-26.5266	16.5932	0.84781	0.0:0.0:0.0:1.0	.	998;1004	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1004;1043;1026;1004	ENSP00000380897:Y1004C;ENSP00000437849:Y1043C;ENSP00000256552:Y1026C	ENSP00000256552:Y1026C	Y	-	2	0	TRPM1	29110528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.976000	0.63785	2.320000	0.78422	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1	105	420	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1	105	415	0	135	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM1	4308	broad.mit.edu	37	15	31329913	31329913	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31329913C>A	ENST00000256552.6	-	20	2719		c.e20+1		RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Splice_Site|TRPM1_ENST00000542188.1_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1	p.?(1)		99		all_lung(180;1.92e-11)			GGAGGCCTCACTGTGTAAAAC	0.373000																								1	Unknown(1)						SO:0001630	splice_region_variant			ENST00000256552.6	1	1	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772569	0.69992	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0384	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM1	29117205	1.000000	0.71417	0.976000	0.42696	0.694000	0.40290	7.776000	0.85560	2.420000	0.82092	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1	78	321	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	76	311	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM1	4308	broad.mit.edu	37	15	31334348	31334348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31334348C>A	ENST00000256552.6	-	17	2040	c.1893G>T	c.(1891-1893)caG>caT	p.Q631H	TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H|TRPM1_ENST00000542188.1_Missense_Mutation_p.Q648H|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1	p.Q609Q(1)		99		all_lung(180;1.92e-11)			GGAAGGGATACTGGAACCGAC	0.527000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000256552.6	1	1	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010980	0.35511	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.72505	-0.66;-0.66;-0.66	4.72	2.78	0.32641	.	0.179366	0.50627	D	0.000115	T	0.53916	0.1826	N	0.17474	0.49	0.45464	D	0.998439	B;B	0.14012	0.009;0.005	B;B	0.17433	0.018;0.008	T	0.54840	-0.8233	10	0.72032	D	0.01	-16.7394	11.5534	0.50733	0.0:0.8441:0.0:0.1559	.	603;609	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	609;648;631;609	ENSP00000380897:Q609H;ENSP00000437849:Q648H;ENSP00000256552:Q631H	ENSP00000256552:Q631H	Q	-	3	2	TRPM1	29121640	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.916000	0.28651	1.083000	0.41159	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	0	10	166	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.965866e-01	10	160	0	41	2								-13.325560	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.720000	0.360000	1.000000	1.000000	0.734912	0.720000	0	5.100000e-01	1
TRPM1	4308	broad.mit.edu	37	15	31362299	31362299	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31362299T>G	ENST00000256552.6	-	4	361	c.214A>C	c.(214-216)Agc>Cgc	p.S72R	TRPM1_ENST00000397795.2_Missense_Mutation_p.S50R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000542188.1_Missense_Mutation_p.S89R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1			99		all_lung(180;1.92e-11)			GTTGGGTAGCTCTGGGTGTGC	0.493000																								0							SO:0001583	missense			ENST00000256552.6	1	1	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	9.985	1.229159	0.22542	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.81415	-1.49;-1.49;-1.49	6.03	3.52	0.40303	.	0.439281	0.20773	U	0.085936	T	0.80199	0.4579	L	0.31926	0.97	0.09310	N	0.999996	D;B	0.56968	0.978;0.177	P;B	0.60609	0.877;0.122	T	0.69217	-0.5203	10	0.52906	T	0.07	-25.2032	8.0341	0.30482	0.0:0.1021:0.3481:0.5498	.	50;50	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	R	50;89;72;50	ENSP00000380897:S50R;ENSP00000437849:S89R;ENSP00000256552:S72R	ENSP00000256552:S72R	S	-	1	0	TRPM1	29149591	0.893000	0.30496	1.000000	0.80357	0.996000	0.88848	0.322000	0.19576	1.053000	0.40415	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	1	479	2078	0	526		0	0	0	0	526	2		0	0	0	0	0	2	1	1	474	2043	0	522	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTUD7A	161725	broad.mit.edu	37	15	31793994	31793994	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31793994G>T	ENST00000307050.4	-	8	1141	c.1049C>A	c.(1048-1050)cCt>cAt	p.P350H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.P357H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A			30		all_lung(180;1.6e-09)			TCTGTTGGGAGGGACCTCCAA	0.577000																								0							SO:0001583	missense			ENST00000307050.4	1	1	hg19	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676297	0.67928	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32988	1.43;1.43	4.84	3.92	0.45320	Ovarian tumour, otubain (2);	0.107611	0.64402	D	0.000004	T	0.50292	0.1607	M	0.77616	2.38	0.43835	D	0.996413	D;D	0.76494	0.998;0.999	P;D	0.65323	0.891;0.934	T	0.52540	-0.8562	10	0.72032	D	0.01	-4.3143	8.354	0.32318	0.2337:0.0:0.7663:0.0	.	357;350	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	350;357	ENSP00000305926:P350H;ENSP00000372358:P357H	ENSP00000305926:P350H	P	-	2	0	OTUD7A	29581286	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.820000	0.69250	1.135000	0.42183	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	1	0	1	98	449	0	111	0	1.519734e-01	1	3	0	111	2		0	0	0	0	0	2	1	1	98	442	0	111	2								-2.895706	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTUD7A	161725	broad.mit.edu	37	15	31818563	31818563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31818563G>A	ENST00000307050.4	-	6	953	c.861C>T	c.(859-861)ggC>ggT	p.G287G	OTUD7A_ENST00000382902.1_Silent_p.G294G	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A			30		all_lung(180;1.6e-09)			CCCCGCCCGTGCCGCCATTCT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000307050.4	1	1	hg19	CCDS10026.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	1	0	1	13	62	0	16	1	1.576525e-01	2	2	0	16	2		0	0	0	0	0	2	1	9.996693e-01	13	61	0	15	2								-19.999740	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999080	0.990000	1	9.900000e-01	1
OTUD7A	161725	broad.mit.edu	37	15	31822993	31822993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31822993G>T	ENST00000307050.4	-	4	661	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_ENST00000382902.1_Missense_Mutation_p.S190Y	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A			30		all_lung(180;1.6e-09)			GCACACAGTGGACCACCAGTT	0.527000																								0							SO:0001583	missense			ENST00000307050.4	1	1	hg19	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433298	0.25813	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30981	1.52;1.51	6.06	5.15	0.70609	.	0.053150	0.85682	D	0.000000	T	0.31104	0.0786	N	0.21142	0.635	0.48185	D	0.999606	D;P	0.55605	0.972;0.952	P;B	0.50440	0.641;0.438	T	0.04440	-1.0951	10	0.40728	T	0.16	-29.3876	15.4188	0.74995	0.0664:0.0:0.9336:0.0	.	190;190	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Y	190	ENSP00000305926:S190Y;ENSP00000372358:S190Y	ENSP00000305926:S190Y	S	-	2	0	OTUD7A	29610285	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	8.832000	0.92079	1.579000	0.49836	-0.145000	0.13849	TCC		TCGA-IB-7651-01A-11D-2154-08	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	1	0	0	11	221	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	9.982067e-01	11	215	0	61	2								-3.341150	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.600000	0.310000	1.000000	0.550000	0.638552	0.600000	0	4.300000e-01	8.700000e-01
CHRNA7	1139	broad.mit.edu	37	15	32460281	32460281	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32460281G>A	ENST00000306901.3	+	10	1228	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	CHRNA7_ENST00000455693.2_Silent_p.P196P|CHRNA7_ENST00000454250.3_Silent_p.P406P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)			12		all_lung(180;6.35e-11)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGGCGCCGCCGCCCGCCAGCA	0.706000													Esophageal Squamous(193;529 2900 40232 43193)											0							SO:0001819	synonymous_variant			ENST00000306901.3	1	1	hg19	CCDS10027.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2	0	0	0	63	471	0	73	0	1.429259e-02	0	2	0	73	2		0	0	0	0	0	2	1	1	63	448	0	78	2								-2.443732	0	1	120596	4	32	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999870	0.990000	1	9.900000e-01	1
ARHGAP11A	9824	broad.mit.edu	37	15	32929721	32929721	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32929721T>G	ENST00000361627.3	+	12	3469	c.2747T>G	c.(2746-2748)aTt>aGt	p.I916S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I727S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A			31		all_lung(180;1.3e-11)			ATTGGTGCAATTTCAAAGTCA	0.368000													Colon(45;757 1134 30003 36652)											0							SO:0001583	missense			ENST00000361627.3	1	1	hg19	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.295039	0.05532	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10860	2.83	4.55	0.908	0.19326	.	0.936787	0.08882	N	0.879885	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.23442	0.085	B	0.22386	0.039	T	0.32295	-0.9912	10	0.66056	D	0.02	.	6.3575	0.21410	0.0:0.3165:0.0:0.6834	.	916	Q6P4F7	RHGBA_HUMAN	S	916;727	ENSP00000355090:I916S	ENSP00000355090:I916S	I	+	2	0	ARHGAP11A	30717013	0.275000	0.24201	0.015000	0.15790	0.020000	0.10135	0.298000	0.19120	0.283000	0.22279	0.482000	0.46254	ATT		TCGA-IB-7651-01A-11D-2154-08	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	1	0	1	74	389	0	86	1	9.490707e-01	9	19	0	86	2		0	0	0	0	0	2	1	1	74	385	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMN1	342184	broad.mit.edu	37	15	33149272	33149272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33149272G>T	ENST00000559047.1	-	14	3871	c.3872C>A	c.(3871-3873)tCc>tAc	p.S1291Y	FMN1_ENST00000334528.9_Missense_Mutation_p.S1068Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y			Q68DA7	FMN1_HUMAN	formin 1			29		all_lung(180;1.14e-07)			CTCCTTTGGGGACTCCTTGCA	0.468000																								0							SO:0001583	missense			ENST00000559047.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.88	3.717737	0.68844	.	.	ENSG00000248905	ENST00000334528	T	0.66460	-0.21	4.82	4.82	0.62117	.	0.056948	0.64402	D	0.000001	D	0.83059	0.5172	M	0.85373	2.75	.	.	.	D	0.89917	1.0	D	0.87578	0.998	D	0.86841	0.2017	9	0.87932	D	0	.	15.2718	0.73708	0.0:0.0:1.0:0.0	.	1068	Q68DA7-5	.	Y	1068	ENSP00000333950:S1068Y	ENSP00000333950:S1068Y	S	-	2	0	FMN1	30936564	1.000000	0.71417	0.956000	0.39512	0.985000	0.73830	6.038000	0.70964	2.664000	0.90586	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	1	0	0	34	343	0	95	0	5.294483e-01	0	19	0	95	2		0	0	0	0	0	2	1	1	34	335	0	95	2								-11.417900	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.760000	1.000000	1.000000	0.969954	0.990000	1	9.100000e-01	1
FMN1	342184	broad.mit.edu	37	15	33260974	33260974	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33260974G>A	ENST00000559047.1	-	5	2927	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	FMN1_ENST00000334528.9_Silent_p.I753I|FMN1_ENST00000561249.1_Silent_p.I878I|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1			29		all_lung(180;1.14e-07)			AACTGGGCTCGATGGCTGGTT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000559047.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	1	0	1	99	543	0	143	0	1.746915e-01	0	5	0	143	2		0	0	0	0	0	2	1	1	95	521	0	142	2								-20.000000	1	1	120808	2	39	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMN1	342184	broad.mit.edu	37	15	33261570	33261570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261570G>A	ENST00000559047.1	-	5	2331	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	FMN1_ENST00000334528.9_Nonsense_Mutation_p.R555*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1			29		all_lung(180;1.14e-07)			CAACCCCCTCGCCATCTGTGT	0.483000																								0							SO:0001587	stop_gained			ENST00000559047.1	0	1	hg19		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.662893	0.88251	.	.	ENSG00000248905	ENST00000334528	.	.	.	4.51	3.52	0.40303	.	0.305463	0.34133	N	0.004233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6005	0.17351	0.1035:0.0:0.5508:0.3457	.	.	.	.	X	555	.	ENSP00000333950:R555X	R	-	1	2	FMN1	31048862	0.010000	0.17322	0.799000	0.32177	0.098000	0.18820	0.546000	0.23284	2.339000	0.79563	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	1	0	0	229	967	0	236	1	9.579281e-01	2	22	0	236	2		0	0	0	0	0	2	1	1	224	942	1	236	18								-20.000000	1	0	120888	1	41	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	33825537	33825537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33825537G>A	ENST00000389232.4	+	5	450	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			ACTACATCAAGATCCCAGACA	0.463000																								0							SO:0001583	missense			ENST00000389232.4	0	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588542	0.86851	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98264	-4.83;-4.83	4.73	4.73	0.59995	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.72118	2.19	0.48185	D	0.999609	D;P	0.53312	0.959;0.951	D;P	0.65684	0.937;0.76	D	0.98945	1.0792	10	0.07990	T	0.79	.	17.5237	0.87793	0.0:0.0:1.0:0.0	.	127;127	Q15413-2;Q15413	.;RYR3_HUMAN	K	127	ENSP00000373884:R127K;ENSP00000399610:R127K	ENSP00000354735:R127K	R	+	2	0	RYR3	31612829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.442000	0.82660	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	6	55	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.639932e-01	6	53	0	21	2								-11.650220	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.520000	1.000000	1.000000	0.934125	0.990000	1	8.100000e-01	1
RYR3	6263	broad.mit.edu	37	15	33855181	33855181	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33855181A>G	ENST00000389232.4	+	11	1186	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	RYR3_ENST00000415757.3_Silent_p.K372K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			AAGACGCCAAAACTTCCCGCC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000389232.4	1	1	hg19	CCDS45210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	83	383	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	82	375	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	33872190	33872190	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33872190A>G	ENST00000389232.4	+	13	1352	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A	RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			AAACAATCGCACAGCTGCCCC	0.557000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	5.532	0.283132	0.10458	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96427	-4.01;-4.01	5.15	5.15	0.70609	.	0.370359	0.29376	N	0.012324	D	0.88865	0.6553	N	0.17082	0.46	0.28262	N	0.924809	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.75838	-0.3176	10	0.06099	T	0.92	.	7.2164	0.25961	0.778:0.1465:0.0756:0.0	.	428;428	Q15413-2;Q15413	.;RYR3_HUMAN	A	428	ENSP00000373884:T428A;ENSP00000399610:T428A	ENSP00000354735:T428A	T	+	1	0	RYR3	31659482	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.266000	0.43320	2.160000	0.67779	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	35	204	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	35	201	0	53	2								-20.000000	1	1	120942	1	27	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	33873841	33873841	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33873841C>A	ENST00000389232.4	+	14	1640	c.1570C>A	c.(1570-1572)Ctg>Atg	p.L524M	RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			CTACAAATTGCTGGGTAAGTA	0.458000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128371	0.37533	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95918	-3.85;-3.85	5.31	3.44	0.39384	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000010	D	0.97576	0.9206	M	0.88105	2.93	0.44221	D	0.99705	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	D	0.97111	0.9804	10	0.87932	D	0	.	10.0129	0.41997	0.0:0.7247:0.0:0.2753	.	524;524	Q15413-2;Q15413	.;RYR3_HUMAN	M	524	ENSP00000373884:L524M;ENSP00000399610:L524M	ENSP00000354735:L524M	L	+	1	2	RYR3	31661133	0.987000	0.35691	0.990000	0.47175	0.406000	0.30931	1.186000	0.32078	0.626000	0.30322	-0.251000	0.11542	CTG		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	66	304	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	66	299	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	33895431	33895431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33895431C>T	ENST00000389232.4	+	18	2100	c.2030C>T	c.(2029-2031)cCc>cTc	p.P677L	RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			ACAGCAGAGCCCACACATCTG	0.582000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168315	0.94768	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.60299	0.2;0.2	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.062563	0.64402	D	0.000004	T	0.73705	0.3621	M	0.71581	2.175	0.80722	D	1	P;D	0.58268	0.873;0.982	B;P	0.59825	0.382;0.864	T	0.76085	-0.3088	10	0.87932	D	0	.	19.3248	0.94258	0.0:1.0:0.0:0.0	.	677;677	Q15413-2;Q15413	.;RYR3_HUMAN	L	677	ENSP00000373884:P677L;ENSP00000399610:P677L	ENSP00000354735:P677L	P	+	2	0	RYR3	31682723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.549000	0.82163	2.796000	0.96246	0.597000	0.82753	CCC		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0	0	0	32	943	0	191		0	0	0	0	191	2		0	0	0	0	0	2	1	1	33	920	0	188	2								-3.152446	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.400000	0.270000	1.000000	0.390000	0.462431	0.400000	0	3.300000e-01	5.100000e-01
RYR3	6263	broad.mit.edu	37	15	33926885	33926885	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926885C>T	ENST00000389232.4	+	25	3196	c.3126C>T	c.(3124-3126)cgC>cgT	p.R1042R	RYR3_ENST00000415757.3_Silent_p.R1042R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			AAGCTGTGCGCACTTTTGTTG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000389232.4	1	1	hg19	CCDS45210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	100	370	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	98	363	0	86	2								-20.000000	1	0	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	33926918	33926918	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926918A>G	ENST00000389232.4	+	25	3229	c.3159A>G	c.(3157-3159)ccA>ccG	p.P1053P	RYR3_ENST00000415757.3_Silent_p.P1053P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			ACATTGAGCCATCAGACCAAG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000389232.4	1	1	hg19	CCDS45210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	0	39	426	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	38	419	0	80	2								-20.000000	1	0	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.730000	1.000000	1.000000	0.949636	0.990000	1	8.600000e-01	1
RYR3	6263	broad.mit.edu	37	15	33927881	33927881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33927881C>T	ENST00000389232.4	+	26	3312	c.3242C>T	c.(3241-3243)gCa>gTa	p.A1081V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			CGATCTTATGCAGTGAGATCT	0.527000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224308	0.95139	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74209	-0.82;-0.82	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.85416	0.1140	10	0.37606	T	0.19	.	19.1899	0.93660	0.0:1.0:0.0:0.0	.	1081;1081	Q15413-2;Q15413	.;RYR3_HUMAN	V	1081	ENSP00000373884:A1081V;ENSP00000399610:A1081V	ENSP00000354735:A1081V	A	+	2	0	RYR3	31715173	1.000000	0.71417	0.836000	0.33094	0.901000	0.52897	7.559000	0.82265	2.760000	0.94817	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	27	145	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	27	142	0	31	2								-15.627560	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	33936603	33936603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33936603C>A	ENST00000389232.4	+	28	3718	c.3648C>A	c.(3646-3648)tgC>tgA	p.C1216*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.C1216*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	p.C1216C(1)		311		all_lung(180;7.18e-09)			ATACCATGTGCGGTCTCCAAG	0.522000																								1	Substitution - coding silent(1)						SO:0001587	stop_gained			ENST00000389232.4	0	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	40	8.482325	0.98832	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.13	-9.61	0.00550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0701	0.97718	0.0:0.1782:0.0:0.8218	.	.	.	.	X	1216	.	ENSP00000354735:C1216X	C	+	3	2	RYR3	31723895	0.088000	0.21588	0.406000	0.26421	0.938000	0.57974	-0.638000	0.05452	-1.975000	0.00997	-1.648000	0.00760	TGC		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0	0	0	4	98	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	8.796080e-01	4	93	0	23	2								-4.022391	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.540000	0.180000	1.000000	1.000000	0.587734	0.540000	0	3.200000e-01	9.500000e-01
RYR3	6263	broad.mit.edu	37	15	33954523	33954523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954523C>T	ENST00000389232.4	+	35	4862	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			CAACAAGTACCTCCCCGGCCT	0.582000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567655	0.65651	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.76060	-0.99;-0.99	4.89	3.96	0.45880	.	0.000000	0.64402	D	0.000005	D	0.84633	0.5515	M	0.83012	2.62	0.49213	D	0.999769	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	D	0.85319	0.1083	10	0.87932	D	0	.	8.4807	0.33040	0.0:0.7771:0.0:0.2229	.	1598;1598	Q15413-2;Q15413	.;RYR3_HUMAN	F	1598	ENSP00000373884:L1598F;ENSP00000399610:L1598F	ENSP00000354735:L1598F	L	+	1	0	RYR3	31741815	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.494000	0.35616	1.270000	0.44297	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	15	78	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.999044e-01	14	77	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999147	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	33954869	33954869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954869C>A	ENST00000389232.4	+	35	5208	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H	RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			ATCCGAGACCCTGTAGGGGGG	0.562000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351827	0.82132	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74737	-0.87;-0.87	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	D	0.88336	0.2971	10	0.87932	D	0	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	1713;1713	Q15413-2;Q15413	.;RYR3_HUMAN	H	1713	ENSP00000373884:P1713H;ENSP00000399610:P1713H	ENSP00000354735:P1713H	P	+	2	0	RYR3	31742161	1.000000	0.71417	0.970000	0.41538	0.818000	0.46254	7.411000	0.80078	2.826000	0.97356	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	74	282	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	73	280	0	73	2								-3.162972	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	33955915	33955915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33955915T>C	ENST00000389232.4	+	36	5666	c.5596T>C	c.(5596-5598)Ttc>Ctc	p.F1866L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			GACCAAGGAGTTCCGCTCACC	0.552000																								0							SO:0001583	missense			ENST00000389232.4	0	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	34	5.300383	0.95601	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.72942	-0.7;-0.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.84511	2.7	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.99;0.995	D	0.87923	0.2705	10	0.87932	D	0	.	15.3557	0.74425	0.0:0.0:0.0:1.0	.	1866;1866	Q15413-2;Q15413	.;RYR3_HUMAN	L	1866	ENSP00000373884:F1866L;ENSP00000399610:F1866L	ENSP00000354735:F1866L	F	+	1	0	RYR3	31743207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.820000	0.86633	2.203000	0.70933	0.459000	0.35465	TTC		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	7	68	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.814605e-01	7	67	0	18	2								-12.906340	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.520000	1.000000	1.000000	0.929136	0.990000	1	8.000000e-01	1
RYR3	6263	broad.mit.edu	37	15	33988633	33988633	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33988633C>A	ENST00000389232.4	+	39	6145	c.6075C>A	c.(6073-6075)cgC>cgA	p.R2025R	RYR3_ENST00000415757.3_Silent_p.R2025R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			GCCAAATCCGCTCCCTCCTCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000389232.4	1	1	hg19	CCDS45210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	49	237	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	48	230	0	54	2								-20.000000	1	1	121126	1	31	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	34030740	34030740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34030740G>A	ENST00000389232.4	+	50	7675	c.7605G>A	c.(7603-7605)ctG>ctA	p.L2535L	RYR3_ENST00000415757.3_Silent_p.L2535L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			AAGAAGAGCTGCACCTAACGG	0.498000											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000389232.4	1	1	hg19	CCDS45210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	50	235	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	50	232	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	34040438	34040438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34040438C>T	ENST00000389232.4	+	54	8183	c.8113C>T	c.(8113-8115)Cga>Tga	p.R2705*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			TGAGAAGCTTCGAAGTGTGTC	0.572000																								0							SO:0001587	stop_gained			ENST00000389232.4	0	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	50	16.492308	0.99864	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	.	.	.	X	2705	.	ENSP00000354735:R2705X	R	+	1	2	RYR3	31827730	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	4.110000	0.57831	2.679000	0.91253	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	29	170	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	29	167	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999886	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	34078040	34078040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34078040G>T	ENST00000389232.4	+	66	9516	c.9446G>T	c.(9445-9447)gGt>gTt	p.G3149V	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			TGGGAGCGGGGTCCTGAGAAC	0.572000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928608	0.92389	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.64991	-0.13;-0.13	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.85902	0.1435	10	0.87932	D	0	.	19.1279	0.93393	0.0:0.0:1.0:0.0	.	3149;3149	Q15413-2;Q15413	.;RYR3_HUMAN	V	3149	ENSP00000373884:G3149V;ENSP00000399610:G3149V	ENSP00000354735:G3149V	G	+	2	0	RYR3	31865332	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	9.601000	0.98297	2.824000	0.97209	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	166	792	0	190		0	0	0	0	190	2		0	0	0	0	0	2	1	1	163	770	0	188	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	34137128	34137128	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137128C>T	ENST00000389232.4	+	93	13432	c.13362C>T	c.(13360-13362)gaC>gaT	p.D4454D	RYR3_ENST00000415757.3_Silent_p.D4449D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			CCTTTAATGACGAGGAAGAGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000389232.4	1	1	hg19	CCDS45210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	43	172	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	42	169	0	53	2								-20.000000	1	0	120868	2	32	1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR3	6263	broad.mit.edu	37	15	34137155	34137155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137155C>A	ENST00000389232.4	+	93	13459	c.13389C>A	c.(13387-13389)ttC>ttA	p.F4463L	RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			CGATGGTATTCTTTGTCCTTC	0.488000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894511	0.33442	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92858	-3.12	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.339606	0.31495	N	0.007552	D	0.82870	0.5131	N	0.14661	0.345	0.37342	D	0.910447	B;B	0.23249	0.082;0.024	B;B	0.29524	0.058;0.103	T	0.77027	-0.2740	10	0.11182	T	0.66	.	9.4709	0.38842	0.0:0.8415:0.0:0.1585	.	4458;4463	Q15413-2;Q15413	.;RYR3_HUMAN	L	4463;4459	ENSP00000373884:F4463L	ENSP00000354735:F4459L	F	+	3	2	RYR3	31924447	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.828000	0.27435	2.884000	0.98904	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	62	248	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	61	244	0	78	2								-20.000000	1	0	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRM5	1133	broad.mit.edu	37	15	34355142	34355142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355142C>T	ENST00000383263.5	+	3	894	c.224C>T	c.(223-225)gCa>gTa	p.A75V	CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5			20		all_lung(180;1.76e-08)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TTAGCCTGTGCAGATCTCATC	0.493000																								0							SO:0001583	missense			ENST00000383263.5	1	1	hg19	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864736	0.91511	.	.	ENSG00000184984	ENST00000383263	T	0.79454	-1.27	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91248	0.5027	10	0.87932	D	0	-11.1248	19.8946	0.96949	0.0:1.0:0.0:0.0	.	75	P08912	ACM5_HUMAN	V	75	ENSP00000372750:A75V	ENSP00000372750:A75V	A	+	2	0	CHRM5	32142434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2	1	0	1	41	205	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	1	40	199	0	47	2								-19.995750	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CHRM5	1133	broad.mit.edu	37	15	34355538	34355538	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355538C>A	ENST00000383263.5	+	3	1290	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5			20		all_lung(180;1.76e-08)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATCCCTGTTTCTGTCATGACC	0.532000																								0							SO:0001583	missense			ENST00000383263.5	1	1	hg19	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948850	0.73787	.	.	ENSG00000184984	ENST00000383263	T	0.38560	1.13	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.130454	0.53938	D	0.000044	T	0.68668	0.3026	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.72924	-0.4144	10	0.87932	D	0	-14.5017	19.1883	0.93653	0.0:1.0:0.0:0.0	.	207	P08912	ACM5_HUMAN	Y	207	ENSP00000372750:S207Y	ENSP00000372750:S207Y	S	+	2	0	CHRM5	32142830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.764000	0.94973	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2	1	0	1	265	1152	0	286	0	0	0	1	0	286	2		0	0	0	0	0	2	1	1	259	1130	0	285	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRM5	1133	broad.mit.edu	37	15	34355722	34355722	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355722G>T	ENST00000383263.5	+	3	1474	c.804G>T	c.(802-804)caG>caT	p.Q268H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5			20		all_lung(180;1.76e-08)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AAAGGAACCAGGCCTCCTGGT	0.612000																								0							SO:0001583	missense			ENST00000383263.5	1	1	hg19	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195375	0.09599	.	.	ENSG00000184984	ENST00000383263	T	0.61980	0.06	5.42	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.538533	0.19932	N	0.102821	T	0.55893	0.1949	M	0.65498	2.005	0.42048	D	0.991109	B	0.10296	0.003	B	0.12156	0.007	T	0.51092	-0.8749	10	0.54805	T	0.06	-2.3311	7.9424	0.29965	0.1768:0.1361:0.6871:0.0	.	268	P08912	ACM5_HUMAN	H	268	ENSP00000372750:Q268H	ENSP00000372750:Q268H	Q	+	3	2	CHRM5	32143014	1.000000	0.71417	0.663000	0.29738	0.146000	0.21551	0.908000	0.28545	0.051000	0.15978	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2	1	0	1	82	376	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	82	366	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGBD4	161779	broad.mit.edu	37	15	34394945	34394945	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34394945C>A	ENST00000397766.2	+	1	672	c.213C>A	c.(211-213)cgC>cgA	p.R71R	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4			16		all_lung(180;1.76e-08)			ACTCAGGGCGCTCCATGAAAT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000397766.2	1	1	hg19	CCDS10033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	1	0	0	20	274	0	57	0	5.255255e-03	0	2	0	57	2		0	0	0	0	0	2	1	7.303265e-01	19	270	1	56	17								-19.999940	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.840000	0.520000	1.000000	1.000000	0.832452	0.840000	0	6.600000e-01	1
PGBD4	161779	broad.mit.edu	37	15	34395249	34395249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395249C>T	ENST00000397766.2	+	1	976	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4			16		all_lung(180;1.76e-08)			GAAACCTGAGCTGGAGATGTT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000397766.2	1	1	hg19	CCDS10033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	0	0	0	14	413	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	9.997341e-01	14	406	0	91	2								-3.530852	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.410000	0.220000	1.000000	0.380000	0.472790	0.410000	0	3.000000e-01	5.800000e-01
PGBD4	161779	broad.mit.edu	37	15	34395531	34395531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395531C>T	ENST00000397766.2	+	1	1258	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4			16		all_lung(180;1.76e-08)			GCAGTACCTCCCGACAAAACG	0.418000																								0							SO:0001583	missense			ENST00000397766.2	1	1	hg19	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.807889	0.31961	.	.	ENSG00000182405	ENST00000397766	T	0.21543	2.0	0.801	-0.709	0.11237	.	1.950110	0.04017	N	0.299119	T	0.40839	0.1133	M	0.64997	1.995	0.22787	N	0.99874	D	0.76494	0.999	D	0.73708	0.981	T	0.24333	-1.0163	10	0.59425	D	0.04	.	6.0789	0.19931	0.0:0.6757:0.3243:0.0	.	267	Q96DM1	PGBD4_HUMAN	S	267	ENSP00000380872:P267S	ENSP00000380872:P267S	P	+	1	0	PGBD4	32182823	0.678000	0.27586	0.001000	0.08648	0.063000	0.16089	-0.002000	0.12924	-0.187000	0.10516	0.299000	0.19835	CCG		TCGA-IB-7651-01A-11D-2154-08	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	1	0	1	50	234	0	51	0	3.230915e-02	1	1	0	51	2		0	0	0	0	0	2	1	1	50	230	0	49	2								-3.398720	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGBD4	161779	broad.mit.edu	37	15	34395759	34395759	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395759T>C	ENST00000397766.2	+	1	1486	c.1027T>C	c.(1027-1029)Tta>Cta	p.L343L	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4			16		all_lung(180;1.76e-08)			TTTCAGAGAATTACATCAAAA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000397766.2	1	1	hg19	CCDS10033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1	1	0	0	74	315	0	73	1	2.456565e-01	2	3	0	73	2		0	0	0	0	0	2	1	1	74	310	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A6	9990	broad.mit.edu	37	15	34529730	34529730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34529730G>A	ENST00000354181.3	-	22	3316	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6			45		all_lung(180;2.78e-08)		Potassium Chloride(DB00761)	GTGAAGATCCGTATGCTGCAC	0.428000																								0							SO:0001583	missense			ENST00000354181.3	1	1	hg19	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321633	0.81580	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.991;0.998	D	0.99204	1.0874	10	0.87932	D	0	.	17.5108	0.87759	0.0:0.0:1.0:0.0	.	927;942;891;754	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	W	891;927;933;883;883;754	ENSP00000290209:R891W;ENSP00000380819:R927W;ENSP00000380814:R883W;ENSP00000387725:R883W;ENSP00000390199:R754W	ENSP00000290209:R891W	R	-	1	2	SLC12A6	32317022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.040000	0.49799	2.662000	0.90505	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	1	76	327	0	69	1	9.997949e-01	10	46	0	69	2		0	0	0	0	0	2	1	1	76	320	0	69	2								-3.297297	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A6	9990	broad.mit.edu	37	15	34531296	34531296	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34531296C>A	ENST00000354181.3	-	20	2994	c.2502G>T	c.(2500-2502)aaG>aaT	p.K834N	SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6			45		all_lung(180;2.78e-08)		Potassium Chloride(DB00761)	CCTCTCTCAGCTTGGCGGCCA	0.557000																								0							SO:0001583	missense			ENST00000354181.3	1	1	hg19	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	2.746	-0.261117	0.05791	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	4.97	-1.61	0.08399	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	N	0.01729	-0.75	0.48395	D	0.999641	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.12156	0.001;0.007;0.003;0.002	T	0.66324	-0.5952	10	0.02654	T	1	.	10.0645	0.42295	0.0:0.41:0.0:0.59	.	819;834;783;646	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	783;819;825;775;775;646	ENSP00000290209:K783N;ENSP00000380819:K819N;ENSP00000380814:K775N;ENSP00000387725:K775N;ENSP00000390199:K646N	ENSP00000290209:K783N	K	-	3	2	SLC12A6	32318588	0.337000	0.24766	0.989000	0.46669	0.988000	0.76386	-0.131000	0.10482	-0.133000	0.11537	-0.252000	0.11476	AAG		TCGA-IB-7651-01A-11D-2154-08	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	1	198	988	0	224	1	9.983934e-01	14	35	0	224	2		0	0	0	0	0	2	1	1	198	975	0	219	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A6	9990	broad.mit.edu	37	15	34532995	34532995	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34532995T>C	ENST00000354181.3	-	19	2795	c.2303A>G	c.(2302-2304)gAc>gGc	p.D768G	SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6			45		all_lung(180;2.78e-08)		Potassium Chloride(DB00761)	GACATGTAAGTCTTCATCTAG	0.488000																								0							SO:0001583	missense			ENST00000354181.3	1	1	hg19	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298737	0.60195	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.79475	2.455	0.58432	D	0.999999	B;P;P;P	0.42584	0.367;0.76;0.784;0.588	B;B;B;B	0.44224	0.059;0.416;0.444;0.206	D	0.93407	0.6765	10	0.66056	D	0.02	.	13.793	0.63152	0.0:0.0:0.0:1.0	.	753;768;717;580	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	G	717;753;759;709;709;580	ENSP00000290209:D717G;ENSP00000380819:D753G;ENSP00000380814:D709G;ENSP00000387725:D709G;ENSP00000390199:D580G	ENSP00000290209:D717G	D	-	2	0	SLC12A6	32320287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.127000	0.71642	2.086000	0.62901	0.482000	0.46254	GAC		TCGA-IB-7651-01A-11D-2154-08	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	0	35	139	0	32	1	9.864278e-01	5	25	0	32	2		0	0	0	0	0	2	1	1	35	136	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6			45		all_lung(180;2.78e-08)		Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453000																								0							SO:0001583	missense			ENST00000354181.3	1	1	hg19	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421433	0.96111	2.27E-4	0.0	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.86366	-2.1;-2.11;-2.11;-2.11;-1.59	5.1	5.1	0.69264	Amino acid permease domain (1);	0.063721	0.64402	N	0.000006	D	0.95601	0.8570	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;0.999;1.0	D	0.96738	0.9544	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	304;319;268;131	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	268;304;310;260;260;131	ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H	ENSP00000290209:R268H	R	-	2	0	SLC12A6	32334003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	1	0	1	49	200	0	56	1	9.962665e-01	7	31	0	56	2		0	0	0	0	0	2	1	1	47	197	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPCAT4	254531	broad.mit.edu	37	15	34654469	34654469	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34654469A>C	ENST00000314891.6	-	10	1115	c.938T>G	c.(937-939)aTt>aGt	p.I313S	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4			10					GCCCACCACAATCACAGGTAA	0.537000																								0							SO:0001583	missense			ENST00000314891.6	1	1	hg19	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459603	0.43736	.	.	ENSG00000176454	ENST00000314891	T	0.80480	-1.38	5.35	4.22	0.49857	.	0.502673	0.20331	N	0.094425	T	0.58694	0.2140	N	0.13168	0.305	0.36546	D	0.871549	B	0.02656	0.0	B	0.01281	0.0	T	0.55321	-0.8159	10	0.13853	T	0.58	-2.434	3.6788	0.08302	0.6844:0.0:0.3156:0.0	.	313	Q643R3	LPCT4_HUMAN	S	313	ENSP00000317300:I313S	ENSP00000317300:I313S	I	-	2	0	LPCAT4	32441761	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	1.475000	0.35409	2.021000	0.59480	0.482000	0.46254	ATT		TCGA-IB-7651-01A-11D-2154-08	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	0	0	0	14	513	0	121	1	9.996323e-01	22	474	0	121	2		0	0	0	0	0	2	1	9.996662e-01	13	490	0	120	2								-12.549690	1	1	0	0		1	1	2	3	2.017291	0	0.170000	2.060000	1.790713e-01	0.330000	0.180000	1.000000	0.320000	0.403731	0.330000	0	2.500000e-01	4.700000e-01
ACTC1	70	broad.mit.edu	37	15	35084354	35084354	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35084354C>A	ENST00000290378.4	-	5	1400	c.745G>T	c.(745-747)Gtc>Ttc	p.V249F	RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1			31		all_lung(180;2.3e-08)			ATAGTGATGACTTGGCCATCA	0.532000																								0							SO:0001583	missense			ENST00000290378.4	1	1	hg19	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892425	0.52121	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94758	-3.51	4.75	4.75	0.60458	.	0.000000	0.47093	U	0.000258	D	0.97841	0.9291	H	0.96576	3.845	0.80722	D	1	P	0.39535	0.677	P	0.51918	0.684	D	0.99364	1.0918	10	0.87932	D	0	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	249	P68032	ACTC_HUMAN	F	249;214	ENSP00000290378:V249F	ENSP00000290378:V249F	V	-	1	0	ACTC1	32871646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.630000	0.89119	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	0	0	1	63	234	1	70		0	0	0	1	70	2		0	0	0	0	0	2	1	1	61	231	0	70	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AQR	9716	broad.mit.edu	37	15	35196597	35196597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35196597C>A	ENST00000156471.5	-	19	2166	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor			57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)			CATACACATCCTCTGCTCCAT	0.328000																								0							SO:0001583	missense			ENST00000156471.5	1	1	hg19	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780978	0.31502	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94138	-3.36	5.26	1.72	0.24424	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	L	0.33710	1.025	0.40691	D	0.982397	B	0.12630	0.006	B	0.16289	0.015	T	0.76080	-0.3090	10	0.22109	T	0.4	-18.8299	7.9653	0.30095	0.0:0.3197:0.0:0.6803	.	647	O60306	AQR_HUMAN	D	647	ENSP00000156471:E647D	ENSP00000156471:E647D	E	-	3	2	AQR	32983889	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.569000	0.45973	0.413000	0.25759	-0.302000	0.09304	GAG		TCGA-IB-7651-01A-11D-2154-08	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	1	0	1	45	248	0	40	1	9.999426e-01	26	57	0	40	2		0	0	0	0	0	2	1	1	45	241	0	40	2								-3.232241	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ZNF770	54989	broad.mit.edu	37	15	35273720	35273720	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35273720T>C	ENST00000356321.4	-	3	2260	c.1916A>G	c.(1915-1917)aAa>aGa	p.K639R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770			29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)			TCTTTCCAGTTTAGATGGAGA	0.423000																								0							SO:0001583	missense			ENST00000356321.4	1	1	hg19	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.611236	0.46631	.	.	ENSG00000198146	ENST00000356321	T	0.27890	1.64	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	N	0.11364	0.135	0.23716	N	0.997036	P	0.48503	0.911	P	0.54460	0.753	T	0.13045	-1.0524	10	0.15066	T	0.55	-13.6585	10.5307	0.44975	0.0:0.0751:0.0:0.9249	.	639	Q6IQ21	ZN770_HUMAN	R	639	ENSP00000348673:K639R	ENSP00000348673:K639R	K	-	2	0	ZNF770	33061012	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.295000	0.51794	2.219000	0.72066	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	1	0	1	111	512	0	121	1	9.999948e-01	25	56	0	121	2		0	0	0	0	0	2	1	1	109	504	0	121	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF770	54989	broad.mit.edu	37	15	35275070	35275070	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275070T>G	ENST00000356321.4	-	3	910	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770			29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)			CAAGACACATTTAAAAGGCCT	0.348000																								0							SO:0001583	missense			ENST00000356321.4	1	1	hg19	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751978	0.31046	.	.	ENSG00000198146	ENST00000356321	T	0.18810	2.19	5.28	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.312282	0.25833	N	0.028016	T	0.26666	0.0652	L	0.39633	1.23	0.30520	N	0.768574	P	0.44776	0.843	P	0.51866	0.682	T	0.07102	-1.0790	10	0.34782	T	0.22	-6.6884	11.1873	0.48664	0.0:0.0:0.2942:0.7058	.	189	Q6IQ21	ZN770_HUMAN	T	189	ENSP00000348673:K189T	ENSP00000348673:K189T	K	-	2	0	ZNF770	33062362	0.430000	0.25538	1.000000	0.80357	0.994000	0.84299	0.305000	0.19254	0.986000	0.38683	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	1	0	1	37	179	0	64	1	9.994836e-01	14	45	0	64	2		0	0	0	0	0	2	1	1	35	175	0	64	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ZNF770	54989	broad.mit.edu	37	15	35275451	35275451	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275451T>C	ENST00000356321.4	-	3	529	c.185A>G	c.(184-186)aAa>aGa	p.K62R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770			29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)			TCTAAAGGTTTTATGACACAC	0.348000																								0							SO:0001583	missense			ENST00000356321.4	0	1	hg19	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236829	0.58886	.	.	ENSG00000198146	ENST00000356321	T	0.26223	1.75	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.42063	0.1186	L	0.39245	1.2	0.42829	D	0.994015	D	0.76494	0.999	D	0.87578	0.998	T	0.34054	-0.9844	10	0.66056	D	0.02	-12.231	14.0763	0.64891	0.0:0.0:0.0:1.0	.	62	Q6IQ21	ZN770_HUMAN	R	62	ENSP00000348673:K62R	ENSP00000348673:K62R	K	-	2	0	ZNF770	33062743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.962000	0.70364	2.100000	0.63781	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	0	0	0	7	308	0	62	0	4.498598e-01	1	61	0	62	2		0	0	0	0	0	2	1	9.795481e-01	7	302	0	64	2								-3.453565	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.270000	0.120000	0.500000	0.260000	0.290953	0.270000	0	1.800000e-01	3.900000e-01
C15orf41	84529	broad.mit.edu	37	15	36984338	36984338	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:36984338C>T	ENST00000566621.1	+	7	688	c.438C>T	c.(436-438)aaC>aaT	p.N146N	C15orf41_ENST00000437989.2_Silent_p.N146N|C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000562877.1_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000567389.1_Silent_p.N48N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41			12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)			GCATTGTGAACGACTGCTGTT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000566621.1	1	1	hg19	CCDS45215.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	1	0	1	24	117	0	24	1	8.529647e-01	6	13	0	24	2		0	0	0	0	0	2	1	9.999998e-01	24	116	0	24	2								-15.056600	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
MEIS2	4212	broad.mit.edu	37	15	37385817	37385817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37385817C>T	ENST00000561208.1	-	6	1022	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K|MEIS2_ENST00000338564.5_Missense_Mutation_p.E202K			O14770	MEIS2_HUMAN	Meis homeobox 2			36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)			CCTGAAAGTTCTTCATGATCT	0.448000																								0							SO:0001583	missense			ENST00000561208.1	1	1	hg19	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637900	0.67130	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.31730	0.032;0.337;0.228;0.03;0.089;0.142;0.159;0.03	B;B;B;B;B;B;B;B	0.35278	0.044;0.199;0.071;0.062;0.075;0.044;0.06;0.044	T	0.02743	-1.1116	10	0.42905	T	0.14	-0.1362	20.5568	0.99304	0.0:1.0:0.0:0.0	.	189;202;202;202;202;56;114;189	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	K	202;202;202;202;202;189;189;114;56	ENSP00000326296:E202K;ENSP00000341400:E202K;ENSP00000372216:E202K;ENSP00000404185:E202K;ENSP00000391887:E202K;ENSP00000339549:E189K;ENSP00000380745:E114K;ENSP00000219869:E56K	ENSP00000219869:E56K	E	-	1	0	MEIS2	35173109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	1	0	1	55	303	0	65	1	9.980115e-01	6	48	0	65	2		0	0	0	0	0	2	1	1	54	297	0	65	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MEIS2	4212	broad.mit.edu	37	15	37390266	37390266	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37390266C>T	ENST00000561208.1	-	2	565	c.147G>A	c.(145-147)caG>caA	p.Q49Q	MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000382766.2_Silent_p.Q49Q|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000559561.1_Silent_p.Q49Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000559085.1_Silent_p.Q36Q|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000338564.5_Silent_p.Q49Q			O14770	MEIS2_HUMAN	Meis homeobox 2			36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)			CGCCGTAGTGCTGTGTGGCGT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000561208.1	1	1	hg19	CCDS10044.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	1	0	1	94	398	0	60	1	8.378426e-01	3	13	0	60	2		0	0	0	0	0	2	1	1	93	391	0	60	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASGRP1	10125	broad.mit.edu	37	15	38791016	38791016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38791016C>A	ENST00000310803.5	-	15	2029	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)			20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)			TCTTTGGCTCCCAATGAGCAA	0.468000																								0							SO:0001587	stop_gained			ENST00000310803.5	0	1	hg19	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629023	0.96671	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000539159	.	.	.	5.39	5.39	0.77823	.	0.399974	0.27130	N	0.020800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.4143	19.34	0.94337	0.0:1.0:0.0:0.0	.	.	.	.	X	618;583;583;570	.	ENSP00000310244:G618X	G	-	1	0	RASGRP1	36578308	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.190000	0.65104	2.808000	0.96608	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	1	0	0	100	436	0	99	0	8.520699e-01	1	16	0	99	2		0	0	0	0	0	2	1	1	101	427	0	99	2								-3.131152	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASGRP1	10125	broad.mit.edu	37	15	38803860	38803860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38803860C>T	ENST00000310803.5	-	8	1088	c.911G>A	c.(910-912)aGc>aAc	p.S304N	RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)			20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)			CGAGATTGAGCTGTGACACAG	0.488000																								0							SO:0001583	missense			ENST00000310803.5	1	1	hg19	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046704	0.93740	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.999;0.998	T	0.64753	-0.6333	10	0.87932	D	0	-24.3189	19.0978	0.93260	0.0:1.0:0.0:0.0	.	304;304;304;304	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	N	304;304;304;304;256;304;304	ENSP00000310244:S304N;ENSP00000388540:S304N;ENSP00000444762:S256N;ENSP00000413105:S304N	ENSP00000310244:S304N	S	-	2	0	RASGRP1	36591152	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.735000	0.93741	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	1	0	1	75	282	0	67	0	7.910257e-01	0	13	0	67	2		0	0	0	0	0	2	1	1	75	281	0	67	2								-3.745021	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C15orf54	400360	broad.mit.edu	37	15	39544706	39544706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39544706C>T	ENST00000318578.3	+	2	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S	RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54			5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)			TGCACAGAAACCTCAGTCTCC	0.458000																								0							SO:0001583	missense			ENST00000318578.3	1	1	hg19	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687291	0.14973	.	.	ENSG00000175746	ENST00000318578	T	0.40756	1.02	5.07	2.71	0.32032	.	.	.	.	.	T	0.23965	0.0580	N	0.08118	0	0.09310	N	0.999994	B	0.12013	0.005	B	0.10450	0.005	T	0.22800	-1.0206	9	0.87932	D	0	.	9.227	0.37414	0.6178:0.3822:0.0:0.0	.	124	Q8N8G6	CO054_HUMAN	S	124	ENSP00000323686:P124S	ENSP00000323686:P124S	P	+	1	0	C15orf54	37331998	0.710000	0.27896	0.189000	0.23252	0.044000	0.14063	1.137000	0.31479	0.387000	0.25024	-0.262000	0.10625	CCT		TCGA-IB-7651-01A-11D-2154-08	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	1	0	1	111	514	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1	110	498	0	133	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THBS1	7057	broad.mit.edu	37	15	39885650	39885650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885650C>T	ENST00000260356.5	+	19	3213	c.3048C>T	c.(3046-3048)acC>acT	p.T1016T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1			53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)			TCATCAACACCGAAAGGGACG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000260356.5	1	1	hg19	CCDS32194.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	1	0	1	223	1126	0	303	1	1	37	869	0	303	2		0	0	0	0	0	2	1	1	222	1101	0	302	2								-2.330057	0	1	121412	1	36	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1			53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)			CATCAACACCGAAAGGGACGA	0.493000																								0							SO:0001583	missense			ENST00000260356.5	1	0	hg19	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	1	0	0	56	1262	0	296	1	1	11	907	0	296	2		0	0	0	0	0	2	1	1	56	1239	0	296	2								-4.181722	1	1	121412	1	37	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.490000	0.370000	0.630000	0.490000	0.503944	0.490000	0	4.300000e-01	5.700000e-01
THBS1	7057	broad.mit.edu	37	15	39886550	39886550	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39886550C>T	ENST00000260356.5	+	21	3579	c.3414C>T	c.(3412-3414)atC>atT	p.I1138I	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1			53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)			CAGGACCCATCTATGATAAAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000260356.5	1	1	hg19	CCDS32194.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	1	0	1	69	349	0	94	1	1	38	698	0	94	2		0	0	0	0	0	2	1	1	69	345	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSIP1	161835	broad.mit.edu	37	15	40005738	40005738	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40005738T>G	ENST00000350221.3	-	10	1304	c.1095A>C	c.(1093-1095)ggA>ggC	p.G365G		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1			23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)			GTATCTTTTCTCCTGGAGTTA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000350221.3	1	1	hg19	CCDS10050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	1	0	1	180	864	0	132	0	3.002216e-02	1	1	0	132	2		0	0	0	0	0	2	1	1	175	842	0	129	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSIP1	161835	broad.mit.edu	37	15	40018892	40018892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40018892C>A	ENST00000350221.3	-	9	1157	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1			23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)			GCTGCTGATGCTGGGTGACTG	0.443000																								0							SO:0001583	missense			ENST00000350221.3	1	1	hg19	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451852	0.43531	.	.	ENSG00000150667	ENST00000350221	T	0.24350	1.86	4.58	4.58	0.56647	.	0.540943	0.18233	N	0.147512	T	0.40886	0.1135	L	0.60455	1.87	0.30993	N	0.72124	P	0.52061	0.95	P	0.57620	0.824	T	0.30119	-0.9989	9	.	.	.	-3.3257	13.1909	0.59711	0.0:1.0:0.0:0.0	.	316	Q8NA03	FSIP1_HUMAN	H	316	ENSP00000280236:Q316H	.	Q	-	3	2	FSIP1	37806184	0.995000	0.38212	0.895000	0.35142	0.198000	0.23893	3.018000	0.49625	2.832000	0.97577	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	1	0	1	51	192	0	44	0	4.572756e-02	1	1	0	44	2		0	0	0	0	0	2	1	1	49	184	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF2AK4	440275	broad.mit.edu	37	15	40269004	40269004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40269004C>T	ENST00000263791.5	+	12	2251	c.2208C>T	c.(2206-2208)gaC>gaT	p.D736D	EIF2AK4_ENST00000382727.2_Silent_p.D736D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4			40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)			ACGAGGACGACGACGAGGACG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000263791.5	1	1	hg19	CCDS42016.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1	1	0	0	84	612	0	98	1	9.636585e-01	14	27	0	98	2		0	0	0	0	0	2	1	1	84	601	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
EIF2AK4	440275	broad.mit.edu	37	15	40303495	40303495	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40303495C>T	ENST00000263791.5	+	27	3750	c.3707C>T	c.(3706-3708)aCg>aTg	p.T1236M	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4			40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)			GAGAAGCTGACGAGGAGAGAA	0.373000																								0							SO:0001583	missense			ENST00000263791.5	1	1	hg19	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669489	0.88348	0.0	1.22E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.43294	0.95;0.95	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54536	-0.8279	10	0.42905	T	0.14	-15.7224	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1208;1236	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	M	1236;1208	ENSP00000263791:T1236M;ENSP00000372174:T1208M	ENSP00000263791:T1236M	T	+	2	0	EIF2AK4	38090787	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	6.554000	0.73923	2.835000	0.97688	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1	1	0	1	31	99	0	28	1	1	26	128	0	28	2		0	0	0	0	0	2	1	1	31	98	0	27	2								-19.998740	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BUB1B	701	broad.mit.edu	37	15	40494850	40494850	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40494850C>A	ENST00000287598.6	+	14	1884	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	BUB1B_ENST00000412359.3_Silent_p.T577T	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B			36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			TTCTCAAAACCTCAGAAAGCA	0.403000			Mis, N, F, S			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0							SO:0001819	synonymous_variant	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	ENST00000287598.6	1	1	hg19	CCDS10053.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4	1	0	1	111	530	0	140	1	9.648591e-01	8	20	0	140	2		0	0	0	0	0	2	1	1	108	514	0	138	2								-3.339177	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAK6	56924	broad.mit.edu	37	15	40564567	40564567	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40564567G>A	ENST00000542403.2	+	4	1112	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	PAK6_ENST00000560346.1_Missense_Mutation_p.R334H|PAK6_ENST00000453867.1_Missense_Mutation_p.R334H|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000455577.2_Missense_Mutation_p.R334H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6			24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)			AAGTCCCTCCGCACAGCCCCG	0.692000																								0							SO:0001583	missense			ENST00000542403.2	1	1	hg19	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291122	0.23564	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.78;-0.78;-0.83;-0.78;-0.78	3.97	3.97	0.46021	.	0.744197	0.12876	N	0.431845	T	0.58977	0.2160	L	0.29908	0.895	0.34774	D	0.734001	B;B	0.30914	0.199;0.3	B;B	0.25759	0.029;0.063	T	0.66228	-0.5976	10	0.49607	T	0.09	.	6.6628	0.23024	0.0918:0.0:0.7297:0.1785	.	334;334	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	334	ENSP00000406873:R334H;ENSP00000401153:R334H;ENSP00000409465:R334H;ENSP00000260404:R334H;ENSP00000439597:R334H	ENSP00000260404:R334H	R	+	2	0	PAK6	38351859	0.991000	0.36638	0.966000	0.40874	0.324000	0.28378	0.784000	0.26816	2.210000	0.71456	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1	1	0	0	32	572	0	93	1	3.760570e-01	3	21	0	93	2	0	0	0	1	0	0	2	1	9.482856e-01	31	564	1	91	21								-20.000000	1	1	121400	3	40	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.620000	0.430000	0.840000	0.620000	0.632596	0.620000	0	5.200000e-01	7.300000e-01
PLCB2	5330	broad.mit.edu	37	15	40583386	40583386	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40583386T>C	ENST00000260402.3	-	27	3120		c.e27-2		PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2			39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			GGCAGGCTCCTGGGGAGGCCA	0.731000																								0							SO:0001630	splice_region_variant			ENST00000260402.3	0	1	hg19	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626412	0.46840	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2433	0.54555	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCB2	38370678	0.997000	0.39634	0.180000	0.23079	0.091000	0.18340	1.835000	0.39181	1.788000	0.52465	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1	1	0	0	8	53	0	9	0	0	0	1	0	9	2		0	0	0	0	0	2	1	9.896903e-01	8	51	0	9	2								-18.868630	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.710000	1.000000	1.000000	0.978150	0.990000	1	9.900000e-01	1
PLCB2	5330	broad.mit.edu	37	15	40584302	40584302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40584302G>T	ENST00000260402.3	-	23	2738	c.2489C>A	c.(2488-2490)tCt>tAt	p.S830Y	PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2			39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			GAGCTTCACAGACTTCGTGTC	0.542000																								0							SO:0001583	missense			ENST00000260402.3	1	1	hg19	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161357	0.57368	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.23950	1.91;1.88	4.71	4.71	0.59529	.	0.370926	0.28784	N	0.014151	T	0.41858	0.1177	L	0.52011	1.625	0.80722	D	1	P;D;P	0.63880	0.911;0.993;0.62	B;P;B	0.62649	0.424;0.905;0.396	T	0.22312	-1.0220	10	0.72032	D	0.01	.	13.5805	0.61901	0.0782:0.0:0.9218:0.0	.	830;826;830	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	Y	830	ENSP00000260402:S830Y;ENSP00000411991:S830Y	ENSP00000260402:S830Y	S	-	2	0	PLCB2	38371594	1.000000	0.71417	0.991000	0.47740	0.410000	0.31052	4.878000	0.63093	2.605000	0.88082	0.491000	0.48974	TCT		TCGA-IB-7651-01A-11D-2154-08	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1	1	0	1	76	322	0	120	0	9.992720e-01	0	48	0	120	2		0	0	0	0	0	2	1	1	74	318	0	118	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCB2	5330	broad.mit.edu	37	15	40595493	40595493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40595493G>A	ENST00000260402.3	-	3	476	c.227C>T	c.(226-228)cCc>cTc	p.P76L	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	p.P76L(1)		39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			ACCTACCTTGGGCATCTTGGC	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000260402.3	1	1	hg19	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403713	0.83230	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.42513	0.97;0.97;0.97	4.53	3.61	0.41365	.	0.186336	0.47852	N	0.000216	T	0.62913	0.2467	M	0.75615	2.305	0.80722	D	1	D;P;D;D	0.89917	1.0;0.94;1.0;0.998	D;P;D;D	0.97110	0.999;0.885;1.0;0.967	T	0.67995	-0.5526	10	0.87932	D	0	.	13.0206	0.58784	0.0788:0.0:0.9212:0.0	.	76;76;76;76	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	L	76	ENSP00000260402:P76L;ENSP00000411991:P76L;ENSP00000444652:P76L	ENSP00000260402:P76L	P	-	2	0	PLCB2	38382785	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.386000	0.90166	1.253000	0.44018	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1	1	0	1	55	288	0	57	0	9.329611e-01	0	26	0	57	2		0	0	0	0	0	2	1	9.999972e-01	56	280	1	57	19								-3.032746	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DISP2	85455	broad.mit.edu	37	15	40659920	40659920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40659920G>A	ENST00000267889.3	+	8	1694	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)			30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			GTGGCCTTCCGCATGGCCTAC	0.617000																								0							SO:0001583	missense			ENST00000267889.3	1	1	hg19	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158351	0.38119	.	.	ENSG00000140323	ENST00000267889	D	0.95447	-3.71	5.58	5.58	0.84498	Sterol-sensing domain (1);	0.105275	0.64402	D	0.000007	D	0.93032	0.7782	L	0.45137	1.4	0.47905	D	0.999545	P	0.46656	0.882	B	0.39503	0.301	D	0.92354	0.5892	10	0.34782	T	0.22	-28.3214	19.5634	0.95382	0.0:0.0:1.0:0.0	.	536	A7MBM2	DISP2_HUMAN	H	536	ENSP00000267889:R536H	ENSP00000267889:R536H	R	+	2	0	DISP2	38447212	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.979000	0.56888	2.625000	0.88918	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	1	0	1	60	275	0	57	1	6.145838e-01	4	7	0	57	2	1	1	192	788	0	950	2	1	1	55	273	0	57	2								-3.229404	1	1	121412	1	29	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DISP2	85455	broad.mit.edu	37	15	40662041	40662041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40662041G>A	ENST00000267889.3	+	8	3815	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)			30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			GCTGGCCCCAGCCCCAAAACC	0.682000																								0							SO:0001583	missense			ENST00000267889.3	1	1	hg19	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	8.297	0.818993	0.16607	.	.	ENSG00000140323	ENST00000267889	T	0.11821	2.74	5.3	1.31	0.21738	.	0.708449	0.15445	N	0.261977	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40664	-0.9551	10	0.19590	T	0.45	-9.9672	6.7334	0.23395	0.2686:0.2421:0.4894:0.0	.	1243	A7MBM2	DISP2_HUMAN	N	1243	ENSP00000267889:S1243N	ENSP00000267889:S1243N	S	+	2	0	DISP2	38449333	0.996000	0.38824	0.972000	0.41901	0.937000	0.57800	1.217000	0.32455	0.439000	0.26476	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	1	0	1	36	158	0	42	1	6.366171e-01	3	8	0	42	2	1	1	91	401	0	453	2	1	1	35	154	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
BAHD1	22893	broad.mit.edu	37	15	40751121	40751121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751121G>A	ENST00000416165.1	+	2	529	c.458G>A	c.(457-459)cGc>cAc	p.R153H	BAHD1_ENST00000561234.1_Missense_Mutation_p.R153H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1			28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			GATCCCCACCGCAGCCGTGAC	0.662000																								0							SO:0001583	missense			ENST00000416165.1	1	1	hg19	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	5.580	0.291807	0.10567	0.0	1.17E-4	ENSG00000140320	ENST00000416165	T	0.18174	2.23	4.44	4.44	0.53790	.	0.229658	0.36778	N	0.002407	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	P;P;P	0.52577	0.954;0.923;0.954	P;B;P	0.45449	0.481;0.288;0.481	T	0.16158	-1.0412	10	0.36615	T	0.2	-20.8915	8.1268	0.31003	0.0:0.246:0.5944:0.1596	.	153;153;153	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	153	ENSP00000396976:R153H	ENSP00000396976:R153H	R	+	2	0	BAHD1	38538413	0.326000	0.24669	0.996000	0.52242	0.132000	0.20833	3.085000	0.50151	2.746000	0.94184	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	1	0	1	41	379	0	53	1	9.931665e-01	9	64	0	53	2		0	0	0	0	0	2	1	1	35	327	0	35	2								-3.075755	1	1	121240	6	39	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.830000	1.000000	1.000000	0.985059	0.990000	1	9.700000e-01	1
BAHD1	22893	broad.mit.edu	37	15	40751773	40751773	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751773G>T	ENST00000416165.1	+	2	1181	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	BAHD1_ENST00000561234.1_Silent_p.G370G|BAHD1_ENST00000560846.1_Silent_p.G370G	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1			28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			TGTGTGTTGGGCCTGAGCTCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000416165.1	1	1	hg19	CCDS10058.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	1	0	1	98	411	0	95	1	9.997034e-01	12	40	0	95	2		0	0	0	0	0	2	1	1	96	404	0	89	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAHD1	22893	broad.mit.edu	37	15	40754438	40754438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40754438G>A	ENST00000416165.1	+	3	1831	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	BAHD1_ENST00000561234.1_Missense_Mutation_p.R586H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H|RP11-64K12.8_ENST00000559730.1_RNA	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1			28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)			CGTCGCCGCCGCACTAATGGC	0.647000																								0							SO:0001583	missense			ENST00000416165.1	1	1	hg19	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.235644	0.58886	.	.	ENSG00000140320	ENST00000416165	T	0.18016	2.24	5.74	3.82	0.43975	.	0.250811	0.38436	N	0.001682	T	0.15912	0.0383	N	0.08118	0	0.24179	N	0.995593	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.58660	0.843;0.7;0.843	T	0.04481	-1.0948	10	0.52906	T	0.07	-13.8077	9.1975	0.37237	0.0:0.3781:0.5076:0.1143	.	587;587;586	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	587	ENSP00000396976:R587H	ENSP00000396976:R587H	R	+	2	0	BAHD1	38541730	0.995000	0.38212	1.000000	0.80357	0.559000	0.35586	3.604000	0.54081	1.460000	0.47911	-0.196000	0.12772	CGC		TCGA-IB-7651-01A-11D-2154-08	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	0	0	1	180	821	1	140	1	9.661642e-01	7	20	1	140	2		0	0	0	0	0	2	1	1	177	809	1	134	24								-20.000000	1	1	120974	1	34	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST14	113189	broad.mit.edu	37	15	40764185	40764185	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40764185T>C	ENST00000306243.5	+	1	1026	c.773T>C	c.(772-774)gTc>gCc	p.V258A	CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14			4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)			GGCGACGATGTCACATTCCCC	0.597000																								0							SO:0001583	missense			ENST00000306243.5	1	1	hg19	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759780	0.69763	.	.	ENSG00000169105	ENST00000306243	T	0.75821	-0.97	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.70228	0.3200	M	0.67625	2.065	0.80722	D	1	P	0.39094	0.659	B	0.38921	0.285	T	0.70967	-0.4728	10	0.40728	T	0.16	-34.1455	8.9559	0.35818	0.0:0.0869:0.0:0.9131	.	258	Q8NCH0	CHSTE_HUMAN	A	258	ENSP00000307297:V258A	ENSP00000307297:V258A	V	+	2	0	CHST14	38551477	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.135000	0.71696	2.109000	0.64355	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	1	0	1	197	784	0	196	1	1	34	163	0	196	2		0	0	0	0	0	2	1	1	196	774	0	192	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPUSD2	27079	broad.mit.edu	37	15	40863937	40863937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40863937C>T	ENST00000315616.7	+	2	779	c.741C>T	c.(739-741)ggC>ggT	p.G247G	RPUSD2_ENST00000559271.1_Silent_p.G186G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2			11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)			ACCCCTGTGGCCGCTTCCGAC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000315616.7	1	1	hg19	CCDS10061.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	0	0	0	20	605	0	151	1	7.829757e-01	6	83	0	151	2		0	0	0	0	0	2	1	9.999929e-01	19	582	0	150	2								-2.755509	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.370000	0.230000	0.550000	0.370000	0.389221	0.370000	0	3.000000e-01	4.700000e-01
CASC5	57082	broad.mit.edu	37	15	40920867	40920867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40920867C>T	ENST00000346991.5	+	13	6042	c.5652C>T	c.(5650-5652)agC>agT	p.S1884S	CASC5_ENST00000399668.2_Silent_p.S1858S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5			57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)			GTGAAGAGAGCTTGAGGGAGG	0.313000																								0							SO:0001819	synonymous_variant			ENST00000346991.5	0	1	hg19	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020658	0.19433	.	.	ENSG00000137812	ENST00000532406	.	.	.	5.75	1.64	0.23874	.	.	.	.	.	T	0.57475	0.2056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48811	-0.9002	4	.	.	.	.	8.9461	0.35760	0.0:0.5138:0.0:0.4862	.	.	.	.	V	65	.	.	A	+	2	0	CASC5	38708159	0.961000	0.32948	0.995000	0.50966	0.980000	0.70556	-0.104000	0.10923	0.051000	0.15978	-0.268000	0.10319	GCT		TCGA-IB-7651-01A-11D-2154-08	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	0	0	0	10	401	0	80	1	2.942083e-02	2	8	0	80	2		0	0	0	0	0	2	1	9.967669e-01	10	396	0	80	2								-9.443834	1	1	120778	1	32	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.290000	0.140000	0.490000	0.290000	0.308221	0.290000	0	2.100000e-01	3.900000e-01
CASC5	57082	broad.mit.edu	37	15	40949277	40949277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40949277G>T	ENST00000346991.5	+	24	6990	c.6600G>T	c.(6598-6600)aaG>aaT	p.K2200N	CASC5_ENST00000399668.2_Missense_Mutation_p.K2174N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5			57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)			tagttcataagcttattttcc	0.368000																								0							SO:0001583	missense			ENST00000346991.5	0	1	hg19	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655224	0.67472	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.06068	3.35;3.35	5.73	0.0106	0.14083	.	0.476666	0.18695	U	0.133755	T	0.04318	0.0119	L	0.34521	1.04	0.28308	N	0.922827	B;B	0.14438	0.01;0.01	B;B	0.16722	0.016;0.016	T	0.42498	-0.9448	10	0.16896	T	0.51	.	6.8251	0.23878	0.327:0.1318:0.5412:0.0	.	2174;2200	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	N	2200;2174	ENSP00000335463:K2200N;ENSP00000382576:K2174N	ENSP00000335463:K2200N	K	+	3	2	CASC5	38736569	0.994000	0.37717	0.999000	0.59377	0.973000	0.67179	-0.017000	0.12590	0.089000	0.17243	-0.150000	0.13652	AAG		TCGA-IB-7651-01A-11D-2154-08	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	0	0	0	16	89	0	20	1	5.315108e-01	5	6	0	20	2		0	0	0	0	0	2	1	9.999543e-01	16	88	0	20	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998374	0.990000	1	9.900000e-01	1
GCHFR	2644	broad.mit.edu	37	15	41059447	41059447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41059447C>A	ENST00000260447.4	+	3	316	c.155C>A	c.(154-156)cCt>cAt	p.P52H	GCHFR_ENST00000558467.1_Missense_Mutation_p.P35H|GCHFR_ENST00000558670.1_3'UTR|C15orf62_ENST00000344320.6_5'Flank|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|GCHFR_ENST00000559932.1_Missense_Mutation_p.P35H|DNAJC17_ENST00000558727.1_5'Flank	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator			6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)			GTCGATGACCCTCCCCGCATA	0.592000																								0							SO:0001583	missense			ENST00000260447.4	1	1	hg19	CCDS10064.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129110	0.94473	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	.	0.045192	0.85682	D	0.000000	D	0.82467	0.5043	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.947	D	0.83786	0.0228	8	0.87932	D	0	-6.9784	19.6421	0.95762	0.0:1.0:0.0:0.0	.	41;52	B7ZLM8;P30047	.;GFRP_HUMAN	H	52	.	ENSP00000260447:P52H	P	+	2	0	GCHFR	38846739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.313000	0.78978	2.815000	0.96918	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	1	0	0	57	612	0	147	1	1	35	260	0	147	2		0	0	0	0	0	2	1	1	55	602	0	146	2								-3.075755	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.760000	1.000000	1.000000	0.952304	0.990000	1	8.700000e-01	1
RHOV	171177	broad.mit.edu	37	15	41165267	41165267	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41165267A>C	ENST00000220507.4	-	3	849	c.700T>G	c.(700-702)Tgc>Ggc	p.C234G	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V			2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)			CAAACGAAGCAGAAGAACTTC	0.572000													Pancreas(13;103 483 3593 12123 44457)											0							SO:0001583	missense			ENST00000220507.4	1	1	hg19	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092332	0.76756	.	.	ENSG00000104140	ENST00000220507	T	0.72942	-0.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85743	0.1338	10	0.72032	D	0.01	.	15.3612	0.74475	1.0:0.0:0.0:0.0	.	234	Q96L33	RHOV_HUMAN	G	234	ENSP00000220507:C234G	ENSP00000220507:C234G	C	-	1	0	RHOV	38952559	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.869000	0.92326	2.037000	0.60232	0.254000	0.18369	TGC		TCGA-IB-7651-01A-11D-2154-08	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1	1	0	1	52	430	0	81	1	5.657111e-01	2	15	0	81	2		0	0	0	0	0	2	1	1	51	423	0	81	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.997584	0.990000	1	9.900000e-01	1
VPS18	57617	broad.mit.edu	37	15	41192523	41192523	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41192523C>A	ENST00000220509.5	+	4	1846	c.1507C>A	c.(1507-1509)Ctt>Att	p.L503I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)			28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)			CCTGAGCCGGCTTGGGGCTCT	0.607000																								0							SO:0001583	missense			ENST00000220509.5	1	1	hg19	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925968	0.73327	.	.	ENSG00000104142	ENST00000220509	T	0.22539	1.95	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.45470	1.425	0.80722	D	1	P	0.40515	0.719	B	0.37091	0.241	T	0.02781	-1.1111	10	0.19590	T	0.45	-24.7712	19.3228	0.94248	0.0:1.0:0.0:0.0	.	503	Q9P253	VPS18_HUMAN	I	503	ENSP00000220509:L503I	ENSP00000220509:L503I	L	+	1	0	VPS18	38979815	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	6.048000	0.71046	2.633000	0.89246	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2	0	0	0	34	945	0	186	1	7.877468e-01	3	80	0	186	2		0	0	0	0	0	2	1	1	34	931	0	183	2								-3.579353	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.400000	0.280000	0.550000	0.410000	0.415822	0.400000	0	3.400000e-01	4.800000e-01
VPS18	57617	broad.mit.edu	37	15	41194882	41194882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41194882G>A	ENST00000220509.5	+	5	2604	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)			28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)			GCAAGAAGCTGTGGCTGAAGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000220509.5	1	1	hg19	CCDS10069.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2	1	0	0	13	197	0	50	1	9.849025e-01	8	100	0	50	2		0	0	0	0	0	2	1	9.995126e-01	13	192	0	49	2								-16.528420	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.730000	0.410000	1.000000	1.000000	0.742450	0.730000	0	5.500000e-01	9.400000e-01
INO80	54617	broad.mit.edu	37	15	41275118	41275118	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41275118G>A	ENST00000361937.3	-	35	4819	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	INO80_ENST00000401393.3_Silent_p.A1465A|INO80_ENST00000561244.1_5'Flank			Q9ULG1	INO80_HUMAN	INO80 complex subunit			49					CTGCAGCCCCGGCTTTGGCTC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000361937.3	1	1	hg19	CCDS10071.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	1	0	1	44	535	0	94	1	9.442279e-01	8	52	0	94	2		0	0	0	0	0	2	1	1	43	528	0	88	2								-2.578431	1	1	121402	1	30	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.880000	0.650000	1.000000	1.000000	0.882305	0.880000	1	7.600000e-01	1
INO80	54617	broad.mit.edu	37	15	41313242	41313242	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41313242G>T	ENST00000361937.3	-	26	3554	c.3130C>A	c.(3130-3132)Ctg>Atg	p.L1044M	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.L1044M			Q9ULG1	INO80_HUMAN	INO80 complex subunit			49					TTGGCTGCCAGACTCCCTCCT	0.507000																								0							SO:0001583	missense			ENST00000361937.3	1	1	hg19	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744557	0.49151	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.14	4.23	0.50019	.	0.427308	0.24260	N	0.040091	D	0.83811	0.5335	N	0.24115	0.695	0.35107	D	0.765768	P	0.46277	0.875	B	0.41571	0.36	D	0.85873	0.1417	10	0.28530	T	0.3	.	13.7206	0.62725	0.074:0.0:0.926:0.0	.	1044	Q9ULG1	INO80_HUMAN	M	1044	ENSP00000355205:L1044M;ENSP00000384686:L1044M	ENSP00000355205:L1044M	L	-	1	2	INO80	39100534	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.784000	0.38674	1.397000	0.46682	-0.136000	0.14681	CTG		TCGA-IB-7651-01A-11D-2154-08	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	1	0	0	16	331	0	78	1	8.186173e-01	3	64	0	78	2		0	0	0	0	0	2	1	9.999232e-01	14	324	0	78	2								-3.237618	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.540000	0.320000	0.820000	0.530000	0.562273	0.540000	0	4.200000e-01	6.900000e-01
INO80	54617	broad.mit.edu	37	15	41372020	41372020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41372020C>T	ENST00000361937.3	-	9	1434	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	INO80_ENST00000401393.3_Missense_Mutation_p.R337H			Q9ULG1	INO80_HUMAN	INO80 complex subunit			49					GGTGAGGCGGCGGGCACGAGG	0.532000																								0							SO:0001583	missense			ENST00000361937.3	1	0	hg19	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358374	0.41801	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.92647	-3.08;-3.08	4.91	4.91	0.64330	DNA binding domain, INO80 (1);	0.000000	0.85682	D	0.000000	D	0.95658	0.8588	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96014	0.9004	10	0.87932	D	0	.	16.4549	0.84009	0.0:1.0:0.0:0.0	.	337	Q9ULG1	INO80_HUMAN	H	337	ENSP00000355205:R337H;ENSP00000384686:R337H	ENSP00000355205:R337H	R	-	2	0	INO80	39159312	1.000000	0.71417	0.984000	0.44739	0.056000	0.15407	7.430000	0.80321	2.566000	0.86566	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	0	0	1	206	924	3	215	1	8.913346e-01	7	20	3	215	3		0	0	0	0	0	2	1	1	205	905	2	210	25								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUSAP1	51203	broad.mit.edu	37	15	41657701	41657701	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41657701G>A	ENST00000559596.1	+	7	849	c.762G>A	c.(760-762)cgG>cgA	p.R254R	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Silent_p.R254R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000260359.6_Silent_p.R239R|NUSAP1_ENST00000414849.2_Silent_p.R253R			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1			13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)			CGCAAGGCCGGTCTTGTGGCC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000559596.1	1	1	hg19	CCDS45234.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	1	0	1	24	97	0	14	1	9.999501e-01	27	42	0	14	2		0	0	0	0	0	2	1	9.999999e-01	23	97	0	14	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
RTF1	23168	broad.mit.edu	37	15	41745191	41745191	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41745191C>A	ENST00000389629.4	+	3	414	c.402C>A	c.(400-402)gcC>gcA	p.A134A	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)			18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)			ACAAAACTGCCTCCTCAGGCA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000389629.4	1	1	hg19	CCDS32200.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	1	0	1	44	158	0	70	1	1	52	99	0	70	2		0	0	0	0	0	2	1	1	44	156	0	70	2								-3.492121	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTF1	23168	broad.mit.edu	37	15	41758365	41758365	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41758365T>C	ENST00000389629.4	+	6	816	c.804T>C	c.(802-804)cgT>cgC	p.R268R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)			18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)			AGGAACGGCGTTCCAAGCGGG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000389629.4	0	1	hg19	CCDS32200.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	0	0	0	3	44	0	11	1	9.840721e-01	22	117	0	11	2		0	0	0	0	0	2	1	8.126084e-01	3	44	0	11	2								-4.573919	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.780000	0.240000	1.000000	1.000000	0.752485	0.780000	0	4.600000e-01	1
LTK	4058	broad.mit.edu	37	15	41805286	41805286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41805286C>A	ENST00000263800.6	-	2	172	c.76G>T	c.(76-78)Gag>Tag	p.E26*	LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase			26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)			AGAAAAGTCTCCTGGGACCCC	0.617000										TSP Lung(18;0.14)														0							SO:0001587	stop_gained			ENST00000263800.6	0	1	hg19	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818287	0.71028	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	.	.	.	4.15	-1.42	0.08913	.	1.747210	0.04129	U	0.317719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9101	0.29785	0.0:0.5192:0.0:0.4808	.	.	.	.	X	26	.	ENSP00000263800:E26X	E	-	1	0	LTK	39592578	0.011000	0.17503	0.001000	0.08648	0.225000	0.24961	0.468000	0.22051	-0.355000	0.08199	-0.258000	0.10820	GAG		TCGA-IB-7651-01A-11D-2154-08	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2	1	0	1	20	93	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999971e-01	20	91	0	23	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999838	0.990000	1	9.900000e-01	1
RPAP1	26015	broad.mit.edu	37	15	41814074	41814074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814074G>A	ENST00000304330.4	-	21	3016	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V	RPAP1_ENST00000561603.1_Missense_Mutation_p.A967V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	p.A967V(1)		45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)			TGGCTGCAGCGCTGCCTGCAG	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000304330.4	1	1	hg19	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331785	0.24167	.	.	ENSG00000103932	ENST00000304330	T	0.74632	-0.86	4.88	-0.796	0.10912	.	1.434620	0.04140	N	0.319392	T	0.56529	0.1991	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.42582	-0.9443	10	0.36615	T	0.2	-15.5212	6.4346	0.21817	0.5094:0.1402:0.3504:0.0	.	967	Q9BWH6	RPAP1_HUMAN	V	967	ENSP00000306123:A967V	ENSP00000306123:A967V	A	-	2	0	RPAP1	39601366	0.354000	0.24912	0.000000	0.03702	0.002000	0.02628	2.133000	0.42093	-0.015000	0.14150	-0.259000	0.10710	GCG		TCGA-IB-7651-01A-11D-2154-08	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	1	0	1	48	145	0	40	1	9.999371e-01	9	39	0	40	2		0	0	0	0	0	2	1	1	46	142	0	40	2								-20.000000	1	1	121410	4	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPAP1	26015	broad.mit.edu	37	15	41814317	41814317	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814317T>C	ENST00000304330.4	-	20	2990	c.2874A>G	c.(2872-2874)gcA>gcG	p.A958A	RPAP1_ENST00000561603.1_Silent_p.A958A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1			45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)			CCAGAGCGAGTGCCAGGTACT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000304330.4	1	1	hg19	CCDS10079.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	0	0	1	99	455	0	112	1	9.901281e-01	5	30	0	112	2		0	0	0	0	0	2	1	1	97	447	0	108	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGA	23269	broad.mit.edu	37	15	41962075	41962075	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41962075T>C	ENST00000570161.1	+	1	983	c.983T>C	c.(982-984)aTa>aCa	p.I328T	MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000566586.1_Missense_Mutation_p.I328T|MGA_ENST00000219905.7_Missense_Mutation_p.I328T			O43451	MGA_HUMAN	MGA, MAX dimerization protein			95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCCTTAATATAAAACGAGAC	0.408000																								0							SO:0001583	missense			ENST00000570161.1	1	1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	7.224	0.597876	0.13939	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83506	-1.73;-1.73;-1.73	5.62	2.93	0.34026	.	1.281880	0.04560	N	0.391515	T	0.71117	0.3302	N	0.22421	0.69	0.22240	N	0.999264	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.003	T	0.56565	-0.7958	10	0.33141	T	0.24	.	2.3255	0.04222	0.0:0.2529:0.2946:0.4525	.	328;328	F5H7K2;E7ENI0	.;.	T	328	ENSP00000219905:I328T;ENSP00000374586:I328T;ENSP00000442467:I328T	ENSP00000219905:I328T	I	+	2	0	MGA	39749367	1.000000	0.71417	0.944000	0.38274	0.946000	0.59487	2.270000	0.43355	1.018000	0.39521	0.383000	0.25322	ATA		TCGA-IB-7651-01A-11D-2154-08	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1	29	135	0	44	1	8.487280e-01	6	12	0	44	2		0	0	0	0	0	2	1	1	29	134	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
MGA	23269	broad.mit.edu	37	15	41991346	41991346	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41991346G>T	ENST00000570161.1	+	4	2177	c.2177G>T	c.(2176-2178)gGt>gTt	p.G726V	MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000566586.1_Missense_Mutation_p.G726V|MGA_ENST00000219905.7_Missense_Mutation_p.G726V			O43451	MGA_HUMAN	MGA, MAX dimerization protein			95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACATCCTGGTCTTCAAGAA	0.373000																								0							SO:0001583	missense			ENST00000570161.1	0	1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422001	0.25639	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.34275	1.37;1.37;1.37	4.81	3.87	0.44632	.	3.584270	0.00424	N	0.000070	T	0.26955	0.0660	N	0.08118	0	0.43471	D	0.995682	B;B	0.17268	0.021;0.001	B;B	0.17722	0.019;0.002	T	0.01810	-1.1269	10	0.32370	T	0.25	.	12.9702	0.58508	0.0:0.1692:0.8308:0.0	.	726;726	F5H7K2;E7ENI0	.;.	V	726	ENSP00000219905:G726V;ENSP00000374586:G726V;ENSP00000442467:G726V	ENSP00000219905:G726V	G	+	2	0	MGA	39778638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.051000	0.41307	0.967000	0.38186	0.561000	0.74099	GGT		TCGA-IB-7651-01A-11D-2154-08	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1	16	93	0	16	1	7.078898e-01	5	11	0	16	2		0	0	0	0	0	2	1	9.999497e-01	16	91	0	16	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997834	0.990000	1	9.900000e-01	1
MGA	23269	broad.mit.edu	37	15	42035217	42035217	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42035217A>G	ENST00000570161.1	+	14	5059	c.5059A>G	c.(5059-5061)Act>Gct	p.T1687A	MGA_ENST00000545763.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000566586.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.T1687A			O43451	MGA_HUMAN	MGA, MAX dimerization protein			95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCAACCATAACTCTTCCTGT	0.498000																								0							SO:0001583	missense			ENST00000570161.1	1	1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022615	0.54683	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.86769	-2.16;-2.17	4.9	4.9	0.64082	.	0.245644	0.28284	N	0.015907	D	0.85588	0.5731	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.58266	0.836;0.694	D	0.87228	0.2258	10	0.87932	D	0	.	11.381	0.49757	0.8487:0.1513:0.0:0.0	.	303;1687	B4DVS1;E7ENI0	.;.	A	1687	ENSP00000219905:T1687A;ENSP00000374586:T1687A	ENSP00000219905:T1687A	T	+	1	0	MGA	39822509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.356000	0.59430	2.056000	0.61249	0.460000	0.39030	ACT		TCGA-IB-7651-01A-11D-2154-08	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1	41	203	0	63	1	8.499034e-01	5	14	0	63	2		0	0	0	0	0	2	1	1	40	200	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MGA	23269	broad.mit.edu	37	15	42041402	42041402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42041402C>A	ENST00000570161.1	+	16	5597	c.5597C>A	c.(5596-5598)cCt>cAt	p.P1866H	MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000566586.1_Missense_Mutation_p.P1657H|MGA_ENST00000219905.7_Missense_Mutation_p.P1866H			O43451	MGA_HUMAN	MGA, MAX dimerization protein			95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCATGAATCCTGTAATTCAA	0.488000																								0							SO:0001583	missense			ENST00000570161.1	1	1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344375	0.61073	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.22945	1.93;1.93;1.93	5.72	5.72	0.89469	.	0.455762	0.18443	N	0.141068	T	0.38931	0.1059	N	0.19112	0.55	0.30792	N	0.740823	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;P	0.70935	0.936;0.971;0.936;0.894	T	0.36866	-0.9730	10	0.87932	D	0	.	18.867	0.92296	0.0:1.0:0.0:0.0	.	482;1657;1866;1827	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	1866;1827;1657	ENSP00000219905:P1866H;ENSP00000374586:P1827H;ENSP00000442467:P1657H	ENSP00000219905:P1866H	P	+	2	0	MGA	39828694	0.995000	0.38212	1.000000	0.80357	0.874000	0.50279	4.034000	0.57289	2.704000	0.92352	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	0	18	424	0	90	0	4.799860e-01	0	38	0	90	2		0	0	0	0	0	2	1	9.999806e-01	18	418	0	90	2								-2.811370	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.480000	0.290000	0.710000	0.470000	0.495634	0.480000	0	3.800000e-01	6.000000e-01
MGA	23269	broad.mit.edu	37	15	42042630	42042630	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42042630G>A	ENST00000570161.1	+	16	6825	c.6825G>A	c.(6823-6825)ctG>ctA	p.L2275L	MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000566586.1_Silent_p.L2066L|MGA_ENST00000219905.7_Silent_p.L2275L			O43451	MGA_HUMAN	MGA, MAX dimerization protein			95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCACTTACTGCTACCTGGAG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000570161.1	1	1	hg19	CCDS55959.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	1	52	166	0	40	1	9.998584e-01	14	32	0	40	2		0	0	0	0	0	2	1	1	51	164	0	40	2								-3.351805	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGA	23269	broad.mit.edu	37	15	42057138	42057138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42057138C>T	ENST00000570161.1	+	22	7799	c.7799C>T	c.(7798-7800)cCg>cTg	p.P2600L	MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000566586.1_Missense_Mutation_p.P2391L|MGA_ENST00000219905.7_Missense_Mutation_p.P2600L			O43451	MGA_HUMAN	MGA, MAX dimerization protein			95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGATGACTCCGCAAGGGCAA	0.443000																								0							SO:0001583	missense			ENST00000570161.1	1	1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835652	0.91117	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86956	-2.16;-2.14;-2.19	5.89	5.89	0.94794	.	0.000000	0.50627	D	0.000118	D	0.89448	0.6718	N	0.24115	0.695	0.46678	D	0.999159	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90607	0.4549	10	0.87932	D	0	.	17.4121	0.87488	0.0:1.0:0.0:0.0	.	2391;2600	F5H7K2;E7ENI0	.;.	L	2600;2561;2391	ENSP00000219905:P2600L;ENSP00000374586:P2561L;ENSP00000442467:P2391L	ENSP00000219905:P2600L	P	+	2	0	MGA	39844430	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	4.576000	0.60915	2.797000	0.96272	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	0	49	491	0	87	1	8.483585e-01	2	34	0	87	2		0	0	0	0	0	2	1	1	49	481	0	86	2								-2.505880	1	1	120992	3	36	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.790000	1.000000	1.000000	0.972168	0.990000	1	9.200000e-01	1
MGA	23269	broad.mit.edu	37	15	42058209	42058209	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42058209C>T	ENST00000570161.1	+	23	7929	c.7929C>T	c.(7927-7929)gaC>gaT	p.D2643D	MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000566586.1_Silent_p.D2434D|MGA_ENST00000219905.7_Silent_p.D2643D			O43451	MGA_HUMAN	MGA, MAX dimerization protein			95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGAAAATGACGACTTATTTA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000570161.1	1	1	hg19	CCDS55959.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	1	0	0	17	323	0	60	0	6.497556e-01	0	43	0	60	2		0	0	0	0	0	2	1	9.999647e-01	16	320	0	58	2								-18.461590	1	1	120800	6	38	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.590000	0.350000	0.880000	0.580000	0.607083	0.590000	0	4.600000e-01	7.400000e-01
MAPKBP1	23005	broad.mit.edu	37	15	42107871	42107871	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42107871A>G	ENST00000456763.2	+	13	1581	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D456G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1			56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			GCCCTGCTGGACACAGAGCTG	0.557000																								0							SO:0001583	missense			ENST00000456763.2	1	1	hg19	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	19.42	3.824024	0.71143	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.48522	0.81;0.94;1.09;0.87;1.03	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	N	0.24115	0.695	0.80722	D	1	D;D;B;B	0.89917	1.0;1.0;0.007;0.005	D;D;B;B	0.91635	0.998;0.999;0.008;0.008	T	0.59878	-0.7371	10	0.54805	T	0.06	-23.4698	15.9544	0.79871	1.0:0.0:0.0:0.0	.	295;456;462;456	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	G	456;339;295;462;456	ENSP00000397570:D456G;ENSP00000221214:D339G;ENSP00000260357:D295G;ENSP00000393099:D462G;ENSP00000426154:D456G	ENSP00000221214:D339G	D	+	2	0	MAPKBP1	39895163	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.238000	0.65366	2.176000	0.68965	0.374000	0.22700	GAC		TCGA-IB-7651-01A-11D-2154-08	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	1	0	1	19	95	0	34	0	4.105090e-01	1	7	0	34	2		0	0	0	0	0	2	1	9.999934e-01	17	94	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999632	0.990000	1	9.900000e-01	1
MAPKBP1	23005	broad.mit.edu	37	15	42116132	42116132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116132C>T	ENST00000456763.2	+	30	4300	c.4104C>T	c.(4102-4104)ccC>ccT	p.P1368P	MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000221214.6_Silent_p.P1245P|MAPKBP1_ENST00000457542.2_Silent_p.P1362P|RP11-23P13.4_ENST00000510176.1_RNA|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Silent_p.P1201P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1			56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			CCAGCAGCCCCTGTGCCCAGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000456763.2	1	1	hg19	CCDS45239.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	1	0	1	110	506	0	133	1	9.427424e-01	7	17	0	133	2		0	0	0	0	0	2	1	1	108	496	0	133	2								-3.010351	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPKBP1	23005	broad.mit.edu	37	15	42116688	42116688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116688C>T	ENST00000456763.2	+	31	4434	c.4238C>T	c.(4237-4239)gCg>gTg	p.A1413V	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A1407V|RP11-23P13.4_ENST00000510176.1_RNA|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1			56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			TCAGAGCCAGCGGTGAGCCTG	0.642000																								0							SO:0001583	missense			ENST00000456763.2	1	1	hg19	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.448093	0.26074	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.41400	1.18;1.34;1.0;1.22;1.3	5.06	-3.72	0.04411	.	0.774545	0.11970	N	0.511842	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	1	B;B;B;B;B;B	0.12013	0.0;0.003;0.0;0.0;0.005;0.004	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.003;0.004	T	0.12863	-1.0531	10	0.33940	T	0.23	-0.479	3.9825	0.09501	0.0955:0.373:0.1026:0.4289	.	1246;1288;1246;1130;1413;1407	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	V	1407;1290;1246;1413;1130	ENSP00000397570:A1407V;ENSP00000221214:A1290V;ENSP00000260357:A1246V;ENSP00000393099:A1413V;ENSP00000426154:A1130V	ENSP00000221214:A1290V	A	+	2	0	MAPKBP1	39903980	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.042000	0.12063	-0.616000	0.05671	-1.278000	0.01390	GCG		TCGA-IB-7651-01A-11D-2154-08	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	1	0	1	11	47	0	15	1	8.488868e-01	4	13	0	15	2		0	0	0	0	0	2	1	9.987668e-01	11	46	0	14	2								-19.918360	1	1	120944	2	25	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998176	0.990000	1	9.900000e-01	1
MAPKBP1	23005	broad.mit.edu	37	15	42117590	42117590	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42117590C>T	ENST00000456763.2	+	32	4697	c.4501C>T	c.(4501-4503)Ctg>Ttg	p.L1501L	MAPKBP1_ENST00000514566.1_Silent_p.L1218L|MAPKBP1_ENST00000221214.6_Silent_p.L1378L|MAPKBP1_ENST00000457542.2_Silent_p.L1495L|RP11-23P13.4_ENST00000510176.1_RNA|JMJD7_ENST00000397299.4_5'Flank|PLA2G4B_ENST00000542534.2_5'Flank|RP11-23P13.4_ENST00000512295.1_RNA|JMJD7_ENST00000408047.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|MAPKBP1_ENST00000260357.7_Silent_p.L1334L|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1			56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			ATACTCAGAACTGTTGCTTCG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000456763.2	1	1	hg19	CCDS45239.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	1	0	1	37	200	0	43	1	9.025446e-01	5	19	0	43	2		0	0	0	0	0	2	1	1	36	196	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
PLA2G4B	100137049	broad.mit.edu	37	15	42135893	42135893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42135893C>T	ENST00000452633.1	+	12	1115	c.763C>T	c.(763-765)Cga>Tga	p.R255*	PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.R486*|PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			GCTGGCCGTGCGACTGGGCTT	0.642000																								0							SO:0001587	stop_gained			ENST00000452633.1	0	0	hg19	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	37	6.069963	0.97256	2.27E-4	2.33E-4	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9013	17.7747	0.88503	0.0:1.0:0.0:0.0	.	.	.	.	X	486;486;255;255	.	ENSP00000342785:R486X	R	+	1	2	JMJD7-PLA2G4B;PLA2G4B	39923185	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.545000	0.53648	2.573000	0.86826	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	1	0	1	62	250	0	52	0	3.461869e-01	1	5	0	52	2		0	0	0	0	0	2	1	1	62	244	0	52	2								-3.376773	1	1	121406	21	44	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G4B	100137049	broad.mit.edu	37	15	42136770	42136770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42136770C>T	ENST00000452633.1	+	13	1333	c.981C>T	c.(979-981)tgC>tgT	p.C327C	PLA2G4B_ENST00000542534.2_Silent_p.C558C|PLA2G4B_ENST00000458483.1_Silent_p.C327C|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.C558C|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			TCTTGGATTGCGTCTCCTACA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000452633.1	1	0	hg19	CCDS45241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	1	0	0	43	538	1	111	0	1.449854e-01	1	8	1	111	2		0	0	0	0	0	2	1	9.996275e-01	42	526	1	111	18								-10.436220	1	1	121412	2	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.860000	0.630000	1.000000	1.000000	0.864103	0.860000	1	7.400000e-01	1
PLA2G4B	100137049	broad.mit.edu	37	15	42137858	42137858	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42137858C>T	ENST00000452633.1	+	16	1732	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	PLA2G4B_ENST00000542534.2_Silent_p.Y691Y|PLA2G4B_ENST00000458483.1_Silent_p.Y460Y|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.Y691Y|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			TCTCTCCCTACGAGGTCGGCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000452633.1	1	0	hg19	CCDS45241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	1	0	0	23	300	0	80	0	1.672167e-01	0	10	0	80	2		0	0	0	0	0	2	1	9.999994e-01	23	297	0	79	2								-20.000000	1	1	121412	1	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.830000	0.540000	1.000000	1.000000	0.832451	0.830000	0	6.800000e-01	1
PLA2G4B	100137049	broad.mit.edu	37	15	42139009	42139009	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139009C>T	ENST00000452633.1	+	19	2275	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PLA2G4B_ENST00000542534.2_Silent_p.D872D|PLA2G4B_ENST00000458483.1_Silent_p.D641D|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.D872D|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			TGTCATTGGACTACAACCTCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000452633.1	0	1	hg19	CCDS45241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	0	0	0	16	601	0	117	0	2.481467e-02	0	9	0	117	2		0	0	0	0	0	2	1	9.999156e-01	16	584	0	117	2								-13.217530	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.300000	0.180000	0.470000	0.310000	0.319120	0.300000	0	2.300000e-01	3.900000e-01
PLA2G4B	100137049	broad.mit.edu	37	15	42139603	42139603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139603C>T	ENST00000452633.1	+	20	2368	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	PLA2G4B_ENST00000542534.2_Silent_p.P903P|PLA2G4B_ENST00000458483.1_Silent_p.P672P|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.P903P|JMJD7-PLA2G4B_ENST00000342159.4_Intron			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			CGCCCAGCCCCGAAGAGCAGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000452633.1	0	1	hg19	CCDS45241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	0	0	0	41	981	1	177	0	7.323349e-02	0	11	1	177	2		0	0	0	0	0	2	1	9.975540e-01	42	962	1	173	20								-2.447908	0	1	121410	2	40	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.460000	0.340000	0.620000	0.470000	0.478136	0.460000	0	4.000000e-01	5.500000e-01
SPTBN5	51332	broad.mit.edu	37	15	42162667	42162667	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42162667A>G	ENST00000320955.6	-	30	5766	c.5539T>C	c.(5539-5541)Ttg>Ctg	p.L1847L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5			62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)			AGGACTTCCAAGAGATCTCTG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000320955.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	1	0	1	28	188	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	28	185	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998958	0.990000	1	9.900000e-01	1
SPTBN5	51332	broad.mit.edu	37	15	42164561	42164561	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42164561G>A	ENST00000320955.6	-	27	5331	c.5104C>T	c.(5104-5106)Cgt>Tgt	p.R1702C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5			62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)			TGCACCACACGCTGCTGCTCA	0.612000																								0							SO:0001583	missense			ENST00000320955.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	.	14.65	2.597539	0.46318	.	.	ENSG00000137877	ENST00000320955	T	0.51071	0.72	4.12	-8.23	0.01033	.	2.359520	0.01718	N	0.028136	T	0.51500	0.1678	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.54174	0.744	T	0.63932	-0.6525	10	0.56958	D	0.05	.	11.1247	0.48310	0.0:0.2549:0.581:0.1641	.	1702	Q9NRC6	SPTN5_HUMAN	C	1702	ENSP00000317790:R1702C	ENSP00000317790:R1702C	R	-	1	0	SPTBN5	39951853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.166000	0.03129	-1.364000	0.02161	-1.086000	0.02197	CGT		TCGA-IB-7651-01A-11D-2154-08	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	0	0	1	29	82	0	21	1	7.219376e-02	2	0	0	21	2		0	0	0	0	0	2	1	1	29	82	0	21	2								-20.000000	1	1	120914	2	34	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTBN5	51332	broad.mit.edu	37	15	42166183	42166183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42166183G>A	ENST00000320955.6	-	25	4977	c.4750C>T	c.(4750-4752)Cgg>Tgg	p.R1584W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5			62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)			GCCAGGCTCCGCCCAGAACTC	0.632000																								0							SO:0001583	missense			ENST00000320955.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	.	5.857	0.342341	0.11069	.	.	ENSG00000137877	ENST00000320955	T	0.36340	1.26	5.26	3.38	0.38709	.	0.357061	0.24606	N	0.037096	T	0.27098	0.0664	L	0.48362	1.52	0.09310	N	1	B	0.26081	0.141	B	0.22880	0.042	T	0.19257	-1.0311	10	0.42905	T	0.14	.	5.2006	0.15262	0.1607:0.0:0.5872:0.2521	.	1584	Q9NRC6	SPTN5_HUMAN	W	1584	ENSP00000317790:R1584W	ENSP00000317790:R1584W	R	-	1	2	SPTBN5	39953475	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.047000	0.11963	0.603000	0.29913	-0.130000	0.14895	CGG		TCGA-IB-7651-01A-11D-2154-08	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	0	0	0	6	141	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	9.644791e-01	6	139	0	20	2								-8.834858	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.500000	0.210000	0.930000	0.460000	0.529573	0.500000	0	3.300000e-01	7.100000e-01
SPTBN5	51332	broad.mit.edu	37	15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178429G>A	ENST00000320955.6	-	7	1251	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	p.R342W(1)		62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)			AGTAGCTGCCGCATGGCGGGC	0.637000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000320955.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.15	1.853048	0.32699	.	.	ENSG00000137877	ENST00000320955	T	0.69685	-0.42	4.84	1.88	0.25563	.	0.253231	0.33875	N	0.004463	T	0.71065	0.3296	L	0.55103	1.725	0.28927	N	0.891805	D	0.89917	1.0	D	0.70935	0.971	T	0.62548	-0.6831	10	0.37606	T	0.19	.	5.555	0.17111	0.2355:0.0:0.6179:0.1466	.	342	Q9NRC6	SPTN5_HUMAN	W	342	ENSP00000317790:R342W	ENSP00000317790:R342W	R	-	1	2	SPTBN5	39965721	0.990000	0.36364	0.900000	0.35374	0.002000	0.02628	2.511000	0.45476	0.110000	0.17919	-0.136000	0.14681	CGG		TCGA-IB-7651-01A-11D-2154-08	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	1	0	1	48	222	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	1	48	220	0	45	2								-3.236568	1	1	120908	6	33	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHD4	30844	broad.mit.edu	37	15	42211611	42211611	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42211611A>C	ENST00000220325.4	-	4	804	c.721T>G	c.(721-723)Tgg>Ggg	p.W241G	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4			20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)			CCTAGGGACCACATGAGGGCC	0.632000																								0							SO:0001583	missense			ENST00000220325.4	1	1	hg19	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435371	0.83885	.	.	ENSG00000103966	ENST00000220325	D	0.94862	-3.54	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99568	1.0970	10	0.87932	D	0	-11.9241	15.2845	0.73816	1.0:0.0:0.0:0.0	.	241	Q9H223	EHD4_HUMAN	G	241	ENSP00000220325:W241G	ENSP00000220325:W241G	W	-	1	0	EHD4	39998903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.017000	0.59298	0.533000	0.62120	TGG		TCGA-IB-7651-01A-11D-2154-08	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	0	0	0	11	294	0	67	1	9.973687e-01	15	264	0	67	2		0	0	0	0	0	2	1	9.983232e-01	11	292	0	66	2								-12.415930	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.430000	0.220000	0.710000	0.410000	0.450392	0.430000	0	3.100000e-01	5.700000e-01
PLA2G4E	123745	broad.mit.edu	37	15	42276014	42276014	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42276014G>A	ENST00000399518.3	-	20	3031	c.2545C>T	c.(2545-2547)Ctc>Ttc	p.L849F	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE			16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)			AGAGCCTGGAGGAGAGTGTCC	0.547000																								0							SO:0001583	missense			ENST00000399518.3	1	1	hg19	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823967	0.32237	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04603	3.59;3.59	5.56	2.41	0.29592	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.450271	0.21517	N	0.073294	T	0.06234	0.0161	M	0.80982	2.52	0.24240	N	0.995364	P;B	0.44816	0.844;0.279	B;B	0.34242	0.178;0.178	T	0.33214	-0.9877	10	0.59425	D	0.04	-2.2893	5.4388	0.16496	0.1566:0.0:0.5502:0.2932	.	820;837	C9JK77;Q3MJ16	.;PA24E_HUMAN	F	849;820	ENSP00000382434:L849F;ENSP00000413897:L820F	ENSP00000382434:L849F	L	-	1	0	PLA2G4E	40063306	1.000000	0.71417	0.994000	0.49952	0.389000	0.30415	1.983000	0.40648	0.658000	0.30925	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	1	0	1	16	50	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999667e-01	16	49	0	16	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999933	0.990000	1	9.900000e-01	1
PLA2G4E	123745	broad.mit.edu	37	15	42285034	42285034	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42285034G>A	ENST00000399518.3	-	13	1857	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.R428R	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE			16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)			CCTGGAATTTGCGGAGCTGGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000399518.3	1	1	hg19	CCDS55962.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	1	0	1	47	224	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	47	219	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G4D	283748	broad.mit.edu	37	15	42364020	42364020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42364020C>T	ENST00000290472.3	-	15	1619	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)			27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)			ATCAGCCGTCCCATGAAGAAC	0.612000																								0							SO:0001583	missense			ENST00000290472.3	1	1	hg19	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349577	0.61183	.	.	ENSG00000159337	ENST00000290472	T	0.51325	0.71	4.79	3.86	0.44501	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.076843	0.49916	N	0.000126	T	0.75715	0.3887	M	0.93462	3.42	0.52099	D	0.999943	D	0.89917	1.0	D	0.97110	1.0	T	0.82890	-0.0233	10	0.87932	D	0	-29.4707	14.5948	0.68397	0.0:0.8528:0.1472:0.0	.	509	Q86XP0	PA24D_HUMAN	R	509	ENSP00000290472:G509R	ENSP00000290472:G509R	G	-	1	0	PLA2G4D	40151312	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	5.846000	0.69444	0.997000	0.38969	-0.305000	0.09177	GGA		TCGA-IB-7651-01A-11D-2154-08	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	1	0	1	69	370	0	79	0	6.820405e-02	1	2	0	79	2		0	0	0	0	0	2	1	1	69	367	0	79	2								-3.227133	1	1	121412	2	31	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G4D	283748	broad.mit.edu	37	15	42373813	42373813	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42373813C>T	ENST00000290472.3	-	11	916		c.e11-1			NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)			27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)			CTCCTCAGGGCTGTGGCAATG	0.617000																								0							SO:0001630	splice_region_variant			ENST00000290472.3	1	1	hg19	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271183	0.40194	.	.	ENSG00000159337	ENST00000290472	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5248	0.75894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4D	40161105	1.000000	0.71417	0.945000	0.38365	0.007000	0.05969	4.928000	0.63447	2.267000	0.75376	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	1	0	1	46	406	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	46	393	0	78	2								-20.000000	1	1	121410	1	34	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.880000	1.000000	1.000000	0.992461	0.990000	1	9.900000e-01	1
VPS39	23339	broad.mit.edu	37	15	42458803	42458803	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42458803G>A	ENST00000348544.4	-	16	1596	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	VPS39_ENST00000318006.5_Silent_p.L522L			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)			28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)			TGGCCTTTCAGAGGGGAGTTG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000348544.4	1	1	hg19	CCDS10083.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	1	0	1	50	208	0	71	1	1	22	96	0	71	2		0	0	0	0	0	2	1	1	50	202	0	71	2								-3.462875	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS39	23339	broad.mit.edu	37	15	42481361	42481361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42481361G>T	ENST00000348544.4	-	6	325	c.326C>A	c.(325-327)aCt>aAt	p.T109N	VPS39_ENST00000568357.1_5'Flank|VPS39_ENST00000318006.5_Missense_Mutation_p.T98N			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)			28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)			TGAAACCGTAGTGATTTGTTG	0.368000																								0							SO:0001583	missense			ENST00000348544.4	1	1	hg19	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896044	0.72639	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04654	3.58;3.58	5.92	5.92	0.95590	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.54323	1.7	0.80722	D	1	P;P	0.45428	0.642;0.858	B;B	0.41666	0.288;0.363	T	0.42498	-0.9448	10	0.14252	T	0.57	-13.9161	20.3343	0.98733	0.0:0.0:1.0:0.0	.	109;98	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	N	98;109	ENSP00000326534:T98N;ENSP00000335193:T109N	ENSP00000326534:T98N	T	-	2	0	VPS39	40268653	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.618000	0.98365	2.822000	0.97130	0.650000	0.86243	ACT		TCGA-IB-7651-01A-11D-2154-08	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	1	0	1	74	313	0	79	1	9.999977e-01	13	69	0	79	2		0	0	0	0	0	2	1	1	74	306	0	79	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM87A	25963	broad.mit.edu	37	15	42521011	42521011	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42521011A>C	ENST00000389834.4	-	13	1403	c.1139T>G	c.(1138-1140)aTt>aGt	p.I380S	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A			24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)			AGTCAGGCTAATAAATATGTG	0.383000																								0							SO:0001583	missense			ENST00000389834.4	1	1	hg19	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583501	0.65992	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.4	5.4	0.78164	.	0.546137	0.15099	U	0.280612	T	0.43634	0.1256	N	0.19112	0.55	0.80722	D	1	P	0.42203	0.773	P	0.44623	0.455	T	0.18555	-1.0333	9	0.14252	T	0.57	-2.8816	15.5958	0.76578	1.0:0.0:0.0:0.0	.	380	Q8NBN3	TM87A_HUMAN	S	380;319;356	.	ENSP00000374484:I380S	I	-	2	0	TMEM87A	40308303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.117000	0.94347	2.277000	0.76020	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	1	0	1	57	278	0	61	1	1	66	213	0	61	2		0	0	0	0	0	2	1	1	56	269	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GANC	2595	broad.mit.edu	37	15	42602499	42602499	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42602499T>C	ENST00000318010.8	+	9	981	c.741T>C	c.(739-741)cgT>cgC	p.R247R	GANC_ENST00000566442.1_Silent_p.R247R	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C			23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		Miglitol(DB00491)	ATGCTTACCGTCTTTATAACC	0.343000																								0							SO:0001819	synonymous_variant			ENST00000318010.8	1	1	hg19	CCDS10084.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	0	0	0	16	561	1	102	0	5.207669e-02	2	26	1	102	3		0	0	0	0	0	2	0	3.462709e-01	16	552	1	102	19								-3.322505	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.320000	0.190000	0.500000	0.320000	0.340975	0.320000	0	2.500000e-01	4.200000e-01
GANC	2595	broad.mit.edu	37	15	42631902	42631902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42631902G>A	ENST00000318010.8	+	17	2119	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C			23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		Miglitol(DB00491)	TCCAGAGACAGAGCTGCTAGT	0.542000																								0							SO:0001583	missense			ENST00000318010.8	1	1	hg19	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	36	5.972882	0.97162	.	.	ENSG00000214013	ENST00000318010	D	0.95205	-3.64	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	M	0.91920	3.255	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.98113	1.0421	10	0.87932	D	0	-20.7149	20.5568	0.99304	0.0:0.0:1.0:0.0	.	627	Q8TET4	GANC_HUMAN	K	627	ENSP00000326227:E627K	ENSP00000326227:E627K	E	+	1	0	GANC	40419194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	1	0	1	113	439	0	122	1	9.549968e-01	2	20	0	122	2		0	0	0	0	0	2	1	1	112	432	0	116	2								-3.568332	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPN3	825	broad.mit.edu	37	15	42652272	42652272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42652272G>A	ENST00000397163.3	+	1	488	c.269G>A	c.(268-270)aGc>aAc	p.S90N	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Missense_Mutation_p.S90N|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N|CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)			47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)			CTCTTTTATAGCCAGAAGTTC	0.498000																								0							SO:0001583	missense			ENST00000397163.3	0	1	hg19	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278620	0.80692	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.83	5.83	0.93111	Peptidase C2, calpain, catalytic domain (3);	0.148988	0.46442	U	0.000295	D	0.96281	0.8787	N	0.16016	0.355	0.58432	D	0.999996	B;P;D	0.53619	0.206;0.951;0.961	B;P;P	0.61477	0.141;0.823;0.889	D	0.95688	0.8738	10	0.32370	T	0.25	.	20.1047	0.97888	0.0:0.0:1.0:0.0	.	90;90;90	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	N	90	ENSP00000380349:S90N;ENSP00000350181:S90N;ENSP00000183936:S90N;ENSP00000326281:S90N	ENSP00000326281:S90N	S	+	2	0	CAPN3	40439564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.438000	0.59961	2.762000	0.94881	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	0	0	0	27	1765	0	329		0	0	0	0	329	2		0	0	0	0	0	2	1	9.999999e-01	26	1734	0	325	2								-2.716748	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.170000	0.110000	0.250000	0.180000	0.182327	0.170000	0	1.400000e-01	2.200000e-01
CAPN3	825	broad.mit.edu	37	15	42676689	42676689	+	Silent	SNP	C	C	T	rs117609395	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42676689C>T	ENST00000397163.3	+	2	537	c.318C>T	c.(316-318)tgC>tgT	p.C106C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C19C|CAPN3_ENST00000349748.3_Silent_p.C106C|CAPN3_ENST00000318023.7_Silent_p.C106C|CAPN3_ENST00000357568.3_Silent_p.C106C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	p.C106C(1)		47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)			AGGAAATTTGCGAGAATCCCC	0.418000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000397163.3	1	0	hg19	CCDS45245.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	0	0	1	40	283	0	81	0	1.232754e-01	1	4	0	81	2		0	0	0	0	0	2	1	1	39	273	0	81	2								-3.316243	1	1	121412	579	60	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999465	0.990000	1	9.900000e-01	1
CAPN3	825	broad.mit.edu	37	15	42693957	42693957	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42693957G>A	ENST00000397163.3	+	11	1692	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.K404K|CAPN3_ENST00000349748.3_Silent_p.K443K|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000318023.7_Silent_p.K491K|CAPN3_ENST00000357568.3_Silent_p.K491K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)			47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)			ACCGGCGGAAGGACCGGAAGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000397163.3	1	1	hg19	CCDS45245.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	1	0	1	39	139	0	42	0	3.983670e-01	1	5	0	42	2		0	0	0	0	0	2	1	1	39	134	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPN3	825	broad.mit.edu	37	15	42695010	42695010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42695010C>T	ENST00000397163.3	+	13	1774	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CAPN3_ENST00000397204.4_5'Flank|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000561817.1_5'Flank|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)			47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)			GAACAAGCAGCACCTGCAGAA	0.612000																								0							SO:0001583	missense			ENST00000397163.3	1	1	hg19	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538072	0.85917	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.93360	0.7883	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.997;0.996;0.999;0.999;0.993	D;D;D;D;D;D	0.72338	0.961;0.961;0.935;0.962;0.977;0.952	D	0.94129	0.7386	10	0.87932	D	0	.	18.1939	0.89814	0.0:1.0:0.0:0.0	.	384;432;471;519;519;432	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	Y	432;7;519;519;471;519;7	ENSP00000348667:H432Y;ENSP00000380349:H519Y;ENSP00000350181:H519Y;ENSP00000183936:H471Y;ENSP00000326281:H519Y;ENSP00000380384:H7Y	ENSP00000326281:H519Y	H	+	1	0	CAPN3	40482302	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.584000	0.82572	2.527000	0.85204	0.455000	0.32223	CAC		TCGA-IB-7651-01A-11D-2154-08	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	1	0	0	50	285	0	74	1	2.274886e-01	3	3	0	74	2		0	0	0	0	0	2	1	1	48	281	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CAPN3	825	broad.mit.edu	37	15	42702663	42702663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42702663A>G	ENST00000397163.3	+	20	2372	c.2153A>G	c.(2152-2154)cAc>cGc	p.H718R	CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)			47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)			CAGGAGTTCCACCACCTCTGG	0.537000																								0							SO:0001583	missense			ENST00000397163.3	1	1	hg19	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843131	0.32606	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	4.72	4.72	0.59763	EF-hand-like domain (1);	0.225090	0.35646	U	0.003074	T	0.48607	0.1509	N	0.01686	-0.76	0.32931	D	0.517108	B;B;B;B;B;B;B	0.11235	0.002;0.004;0.001;0.002;0.003;0.002;0.0	B;B;B;B;B;B;B	0.11329	0.004;0.006;0.006;0.002;0.003;0.001;0.006	T	0.53387	-0.8446	10	0.11485	T	0.65	.	9.2716	0.37675	0.9082:0.0:0.0918:0.0	.	583;631;53;626;712;718;625	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	R	625;206;718;712;626;712;206;53;53	ENSP00000348667:H625R;ENSP00000380349:H718R;ENSP00000350181:H712R;ENSP00000183936:H626R;ENSP00000326281:H712R;ENSP00000380384:H206R;ENSP00000336840:H53R;ENSP00000380387:H53R	ENSP00000326281:H712R	H	+	2	0	CAPN3	40489955	0.930000	0.31532	0.998000	0.56505	0.653000	0.38743	1.396000	0.34531	1.992000	0.58205	0.460000	0.39030	CAC		TCGA-IB-7651-01A-11D-2154-08	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1	1	0	1	103	358	0	110	0	5.635764e-01	1	7	0	110	2		0	0	0	0	0	2	1	1	100	345	0	109	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNAP23	8773	broad.mit.edu	37	15	42822003	42822003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42822003C>T	ENST00000249647.3	+	7	1024	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa			2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)			ACAAATAAAACGAATCACAGA	0.418000																								0							SO:0001587	stop_gained			ENST00000249647.3	0	1	hg19	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299903	0.05532	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	1.16	0.20824	.	0.507597	0.22362	N	0.061079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4173	9.2908	0.37786	0.3635:0.5694:0.0:0.0672	.	.	.	.	X	186;133;133	.	ENSP00000249647:R186X	R	+	1	2	SNAP23	40609295	0.594000	0.26849	0.002000	0.10522	0.213000	0.24496	1.417000	0.34770	0.334000	0.23590	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	1	0	0	61	335	0	76	1	1	187	389	0	76	2		0	0	0	0	0	2	1	1	61	331	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNAP23	8773	broad.mit.edu	37	15	42823668	42823668	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42823668G>T	ENST00000249647.3	+	8	1096	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	SNAP23_ENST00000397138.1_Missense_Mutation_p.D157Y|SNAP23_ENST00000349777.1_Missense_Mutation_p.D157Y|RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa			2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)			GAAACTCATTGACAGCTAAAG	0.383000																								0							SO:0001583	missense			ENST00000249647.3	0	1	hg19	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641378	0.67244	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	4.69	0.59074	.	0.362190	0.32190	N	0.006450	T	0.64821	0.2633	L	0.44542	1.39	0.42954	D	0.994389	P;P	0.48640	0.913;0.88	P;P	0.59171	0.733;0.853	T	0.65957	-0.6042	9	0.51188	T	0.08	-8.3922	12.7923	0.57541	0.084:0.0:0.916:0.0	.	157;210	O00161-2;O00161	.;SNP23_HUMAN	Y	210;157;157	.	ENSP00000249647:D210Y	D	+	1	0	SNAP23	40610960	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.110000	0.31147	1.298000	0.44778	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	0	0	0	12	584	0	119	1	9.972984e-01	12	478	0	119	2		0	0	0	0	0	2	1	9.990799e-01	12	579	0	118	2								-2.707327	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.240000	0.120000	0.390000	0.240000	0.252530	0.240000	0	1.700000e-01	3.200000e-01
HAUS2	55142	broad.mit.edu	37	15	42853482	42853482	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42853482A>G	ENST00000260372.3	+	4	334	c.271A>G	c.(271-273)Act>Gct	p.T91A	HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2			3					GAAGTGTCATACTCTGCAAAG	0.363000																								0							SO:0001583	missense			ENST00000260372.3	1	1	hg19	CCDS10090.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004160	0.35320	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.46451	0.87	5.8	-2.36	0.06663	.	1.191630	0.05775	N	0.607497	T	0.19725	0.0474	N	0.11427	0.14	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.25363	-1.0134	10	0.07030	T	0.85	-15.2457	8.1408	0.31082	0.3617:0.0:0.5174:0.1208	.	60;91	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	A	91;60	ENSP00000260372:T91A	ENSP00000260372:T91A	T	+	1	0	HAUS2	40640774	0.000000	0.05858	0.019000	0.16419	0.996000	0.88848	-0.165000	0.09968	-0.184000	0.10567	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253173.1	1	0	1	53	242	0	76	1	9.999983e-01	27	66	0	76	2		0	0	0	0	0	2	1	1	52	240	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDAN1	146059	broad.mit.edu	37	15	43024010	43024010	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43024010G>A	ENST00000356231.3	-	11	1570	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1			24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)			AGCACCACCAGGGCTCTGACA	0.527000																								0							SO:0001583	missense			ENST00000356231.3	1	1	hg19	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	g	19.04	3.749927	0.69533	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87571	-2.27	5.97	3.08	0.35506	.	0.100299	0.64402	N	0.000001	D	0.90463	0.7013	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88797	0.3282	10	0.72032	D	0.01	-3.2241	8.6882	0.34251	0.1292:0.0:0.746:0.1248	.	516	Q8IWY9	CDAN1_HUMAN	L	516;514	ENSP00000348564:P516L	ENSP00000267892:P514L	P	-	2	0	CDAN1	40811302	1.000000	0.71417	0.949000	0.38748	0.659000	0.38960	6.110000	0.71535	0.417000	0.25871	-0.141000	0.14075	CCT		TCGA-IB-7651-01A-11D-2154-08	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	1	0	1	62	248	0	48	1	9.389576e-01	6	15	0	48	2		0	0	0	0	0	2	1	1	62	245	0	48	2								-3.463824	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDAN1	146059	broad.mit.edu	37	15	43027493	43027493	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027493C>A	ENST00000356231.3	-	5	1046	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1			24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)			GGTCGCTGTCCTTGGCAGTCA	0.493000																								0							SO:0001583	missense			ENST00000356231.3	0	1	hg19	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384808	0.25031	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86694	-2.16	5.94	2.65	0.31530	.	0.252628	0.45867	D	0.000321	T	0.80358	0.4608	L	0.29908	0.895	0.33438	D	0.581967	P	0.37276	0.589	B	0.39027	0.288	D	0.83626	0.0142	10	0.51188	T	0.08	-9.1438	11.5676	0.50815	0.0:0.7932:0.0:0.2068	.	341	Q8IWY9	CDAN1_HUMAN	N	341;339	ENSP00000348564:K341N	ENSP00000267892:K339N	K	-	3	2	CDAN1	40814785	0.710000	0.27896	0.810000	0.32431	0.414000	0.31173	0.783000	0.26802	0.874000	0.35823	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	1	0	1	13	70	0	14	1	8.835559e-01	5	18	0	14	2		0	0	0	0	0	2	1	9.996554e-01	12	70	0	14	2								-19.999090	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.980000	1.000000	1.000000	0.997200	0.990000	1	9.900000e-01	1
CDAN1	146059	broad.mit.edu	37	15	43027557	43027557	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027557T>C	ENST00000356231.3	-	5	982	c.959A>G	c.(958-960)aAc>aGc	p.N320S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1			24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)			CAAGAAGAGGTTTGGTACCAG	0.498000																								0							SO:0001583	missense			ENST00000356231.3	0	1	hg19	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525466	0.44969	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89552	-2.53	6.04	4.92	0.64577	.	0.180260	0.64402	D	0.000014	T	0.80297	0.4597	L	0.31207	0.915	0.42507	D	0.992951	B	0.19583	0.037	B	0.18561	0.022	T	0.74551	-0.3628	10	0.33940	T	0.23	-18.465	6.6711	0.23068	0.0:0.1664:0.0:0.8336	.	320	Q8IWY9	CDAN1_HUMAN	S	320;318	ENSP00000348564:N320S	ENSP00000267892:N318S	N	-	2	0	CDAN1	40814849	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.021000	0.41020	2.317000	0.78254	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	1	0	0	6	62	0	13	1	4.675518e-01	5	11	0	13	2		0	0	0	0	0	2	1	9.640760e-01	6	60	0	13	2								-11.316660	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.450000	1.000000	1.000000	0.889902	0.990000	1	7.000000e-01	1
CDAN1	146059	broad.mit.edu	37	15	43027821	43027821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027821G>A	ENST00000356231.3	-	4	853	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1			24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)			GGGGAGGGGCGACCCCAATTC	0.577000																								0							SO:0001583	missense			ENST00000356231.3	1	1	hg19	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042707	0.19748	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87103	-2.21	5.68	2.26	0.28386	.	0.396178	0.30667	N	0.009131	T	0.68375	0.2994	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53099	-0.8486	10	0.21540	T	0.41	-0.9898	4.8896	0.13721	0.0897:0.148:0.6104:0.152	.	277	Q8IWY9	CDAN1_HUMAN	L	277;275	ENSP00000348564:S277L	ENSP00000267892:S275L	S	-	2	0	CDAN1	40815113	0.004000	0.15560	0.367000	0.25926	0.071000	0.16799	0.710000	0.25748	0.727000	0.32360	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	1	0	1	67	259	0	83	1	9.455638e-01	9	12	0	83	2		0	0	0	0	0	2	1	1	67	245	0	77	2								-3.640980	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTBK2	146057	broad.mit.edu	37	15	43045264	43045264	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43045264C>A	ENST00000267890.6	-	14	2288	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2			43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)			CAAATCTGTTCTGCTTCCTCC	0.463000																								0							SO:0001583	missense			ENST00000267890.6	1	1	hg19	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410801	0.62399	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39997	1.05	5.66	5.66	0.87406	.	0.103999	0.51477	D	0.000086	T	0.52468	0.1736	L	0.54323	1.7	0.80722	D	1	D;P	0.53462	0.96;0.868	P;B	0.54312	0.748;0.383	T	0.53746	-0.8395	10	0.72032	D	0.01	.	13.9765	0.64277	0.0:0.9278:0.0:0.0722	.	658;727	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	I	727;657;1132	ENSP00000267890:R727I	ENSP00000263802:R1132I	R	-	2	0	TTBK2	40832556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.964000	0.40462	2.661000	0.90470	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	1	0	0	67	684	0	150	0	2.616680e-01	0	11	0	150	2		0	0	0	0	0	2	1	1	67	674	0	148	2								-17.279390	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.810000	1.000000	1.000000	0.973447	0.990000	1	9.200000e-01	1
TTBK2	146057	broad.mit.edu	37	15	43067457	43067457	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43067457G>T	ENST00000267890.6	-	13	1982	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2			43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)			AGCAGTAGGAGGACCCTCTGC	0.483000																								0							SO:0001583	missense			ENST00000267890.6	1	1	hg19	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	7.666	0.685987	0.14973	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.37411	1.2	5.77	5.77	0.91146	.	0.411457	0.25587	N	0.029660	T	0.33962	0.0881	L	0.51422	1.61	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.16289	0.015;0.002	T	0.05666	-1.0871	10	0.39692	T	0.17	.	13.1575	0.59527	0.0:0.16:0.84:0.0	.	556;625	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	H	625;555;1030	ENSP00000267890:P625H	ENSP00000263802:P1030H	P	-	2	0	TTBK2	40854749	1.000000	0.71417	0.999000	0.59377	0.211000	0.24417	1.884000	0.39668	2.726000	0.93360	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	1	0	1	100	491	0	123	1	4.044449e-01	3	5	0	123	2		0	0	0	0	0	2	1	1	100	487	0	122	2								-3.089443	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBR1	197131	broad.mit.edu	37	15	43351939	43351939	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43351939G>A	ENST00000290650.4	-	8	1024	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1			58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)			GAACCAAGACGCAAAGCAAAT	0.348000																								0							SO:0001583	missense			ENST00000290650.4	1	1	hg19	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505141	0.26949	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.72051	0.19;-0.62	5.27	5.27	0.74061	.	0.051151	0.85682	D	0.000000	T	0.60573	0.2279	L	0.39147	1.195	0.58432	D	0.999999	B;B	0.27450	0.134;0.179	B;B	0.17722	0.016;0.019	T	0.60900	-0.7171	10	0.56958	D	0.05	-24.1461	12.402	0.55418	0.0763:0.0:0.9237:0.0	.	316;316	B4DYL2;Q8IWV7	.;UBR1_HUMAN	C	316	ENSP00000290650:R316C;ENSP00000371612:R316C	ENSP00000290650:R316C	R	-	1	0	UBR1	41139231	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	5.971000	0.70440	2.746000	0.94184	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	1	0	1	56	253	0	46	1	9.814287e-01	9	22	0	46	2		0	0	0	0	0	2	1	1	56	247	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB42	2038	broad.mit.edu	37	15	43503705	43503705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43503705G>A	ENST00000441366.2	-	4	683	c.458C>T	c.(457-459)gCt>gTt	p.A153V	EPB42_ENST00000540029.1_Missense_Mutation_p.A75V|EPB42_ENST00000300215.3_Missense_Mutation_p.A183V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2			20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)			CATGCGCTGAGCCTCATTCTT	0.577000																								0							SO:0001583	missense			ENST00000441366.2	1	1	hg19	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810516	0.50421	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.87256	-1.82;-2.23;-1.82	5.84	4.91	0.64330	.	0.164522	0.53938	N	0.000053	D	0.83871	0.5348	M	0.64080	1.96	0.30097	N	0.807804	B;P;P	0.45986	0.023;0.87;0.476	B;B;B	0.42138	0.054;0.377;0.209	T	0.80329	-0.1428	10	0.30078	T	0.28	-4.773	8.7641	0.34692	0.0803:0.1502:0.7694:0.0	.	75;183;153	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	V	183;75;153;153	ENSP00000300215:A183V;ENSP00000444699:A75V;ENSP00000396616:A153V	ENSP00000300215:A183V	A	-	2	0	EPB42	41290997	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	1.926000	0.40084	1.460000	0.47911	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	0	0	0	16	408	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	9.999310e-01	16	404	0	87	2								-4.161338	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.440000	0.260000	0.680000	0.430000	0.461979	0.440000	0	3.400000e-01	5.700000e-01
TGM5	9333	broad.mit.edu	37	15	43527084	43527084	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43527084C>T	ENST00000220420.5	-	11	1765	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	TGM5_ENST00000349114.4_Silent_p.Q504Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5			44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		L-Glutamine(DB00130)	TTGACAGGTACTGGCTGTACT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000220420.5	1	1	hg19	CCDS32212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	1	0	1	56	302	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	55	301	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGM7	116179	broad.mit.edu	37	15	43571363	43571363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43571363C>A	ENST00000452443.2	-	11	1795	c.1791G>T	c.(1789-1791)atG>atT	p.M597I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7			39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		L-Glutamine(DB00130)	TTAGGACCAGCATGGACCTCC	0.547000																								0							SO:0001583	missense			ENST00000452443.2	1	1	hg19	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	4.737	0.137116	0.09032	.	.	ENSG00000159495	ENST00000452443	T	0.27557	1.66	5.41	2.18	0.27775	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.464340	0.24645	N	0.036766	T	0.10423	0.0255	N	0.04508	-0.205	0.24677	N	0.99338	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.14252	T	0.57	-12.4081	3.1494	0.06483	0.1786:0.5559:0.1608:0.1046	.	597	Q96PF1	TGM7_HUMAN	I	597	ENSP00000389466:M597I	ENSP00000389466:M597I	M	-	3	0	TGM7	41358655	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	-0.187000	0.09656	0.140000	0.18849	0.650000	0.86243	ATG		TCGA-IB-7651-01A-11D-2154-08	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	1	0	1	32	162	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	31	161	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
TGM7	116179	broad.mit.edu	37	15	43574251	43574251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43574251G>A	ENST00000452443.2	-	9	1146	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7			39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		L-Glutamine(DB00130)	TTCCCTGATGGCCTTCACAGA	0.607000																								0							SO:0001583	missense			ENST00000452443.2	1	1	hg19	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258926	0.95368	.	.	ENSG00000159495	ENST00000452443	T	0.61859	0.07	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.94306	3.52	0.54753	D	0.999986	D	0.89917	1.0	D	0.71184	0.972	D	0.87394	0.2365	10	0.87932	D	0	-15.8349	16.4717	0.84113	0.0:0.0:1.0:0.0	.	381	Q96PF1	TGM7_HUMAN	V	381	ENSP00000389466:A381V	ENSP00000389466:A381V	A	-	2	0	TGM7	41361543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.487000	0.83934	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	1	0	0	13	126	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	9.995996e-01	13	126	0	27	2								-19.092220	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.620000	1.000000	1.000000	0.941695	0.990000	1	8.300000e-01	1
LCMT2	9836	broad.mit.edu	37	15	43621480	43621480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43621480C>A	ENST00000305641.5	-	1	1323	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2			20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		L-Leucine(DB00149)	GCCTATTTGGCTGCCTTTCCA	0.532000																								0							SO:0001583	missense			ENST00000305641.5	1	1	hg19	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.838980	0.16891	.	.	ENSG00000168806	ENST00000305641	T	0.74315	-0.83	4.99	1.83	0.25207	.	0.643115	0.16492	N	0.212070	T	0.52306	0.1726	N	0.14661	0.345	0.58432	D	0.999998	B	0.18610	0.029	B	0.16722	0.016	T	0.31364	-0.9946	10	0.33940	T	0.23	-10.8025	5.1773	0.15141	0.2037:0.6553:0.0:0.1411	.	403	O60294	LCMT2_HUMAN	I	403	ENSP00000307214:S403I	ENSP00000307214:S403I	S	-	2	0	LCMT2	41408772	0.188000	0.23250	0.942000	0.38095	0.706000	0.40770	0.084000	0.14891	0.274000	0.22072	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	1	0	1	106	448	0	109	1	9.909418e-01	11	22	0	109	2		0	0	0	0	0	2	1	1	103	443	0	109	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN29	146050	broad.mit.edu	37	15	43653581	43653581	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43653581A>C	ENST00000396976.2	-	5	2383	c.2249T>G	c.(2248-2250)aTc>aGc	p.I750S	ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29			24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)			CTGGTGAATGATAAGGCTTGA	0.423000																								0							SO:0001583	missense			ENST00000396976.2	1	1	hg19	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750813	0.49257	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.37584	1.19;1.19	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.081571	0.52532	D	0.000068	T	0.22781	0.0550	N	0.04655	-0.195	0.37129	D	0.901151	P;B	0.46220	0.874;0.145	P;P	0.47786	0.542;0.557	T	0.18967	-1.0320	10	0.48119	T	0.1	-11.3561	8.3719	0.32421	0.8254:0.0:0.0:0.1746	.	361;750	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	S	750;361	ENSP00000380174:I750S;ENSP00000380170:I361S	ENSP00000380170:I361S	I	-	2	0	ZSCAN29	41440873	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	2.242000	0.43106	2.168000	0.68352	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	1	0	1	119	485	0	97	1	9.956824e-01	10	26	0	97	2		0	0	0	0	0	2	1	1	117	476	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBGCP4	27229	broad.mit.edu	37	15	43672359	43672359	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43672359A>C	ENST00000260383.7	+	6	773	c.519A>C	c.(517-519)gaA>gaC	p.E173D	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.E173D			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4			21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)			GTGCACTGGAAAAGTAAGTCA	0.448000																								0							SO:0001583	missense			ENST00000260383.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	23.8	4.456013	0.84209	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08370	3.1;3.1	5.72	4.59	0.56863	.	0.041945	0.85682	D	0.000000	T	0.17534	0.0421	M	0.61703	1.905	0.49687	D	0.99981	D;D	0.55385	0.971;0.964	P;P	0.53490	0.727;0.606	T	0.00626	-1.1638	10	0.45353	T	0.12	-10.5663	11.0935	0.48130	0.9276:0.0:0.0724:0.0	.	173;173	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	D	173;37	ENSP00000260383:E173D;ENSP00000382387:E37D	ENSP00000260383:E173D	E	+	3	2	TUBGCP4	41459651	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.748000	0.47483	1.101000	0.41535	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	1	0	1	33	183	0	48	1	9.655272e-01	4	29	0	48	2		0	0	0	0	0	2	1	1	33	182	0	48	2								-17.258620	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
TUBGCP4	27229	broad.mit.edu	37	15	43692416	43692416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43692416C>T	ENST00000260383.7	+	14	1850	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Silent_p.L531L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4			21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)			AGTACTATCTCCAGGTCTGTG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000260383.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	1	0	1	55	289	0	76	1	9.407655e-01	2	25	0	76	2		0	0	0	0	0	2	1	1	55	285	0	76	2								-2.612770	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBGCP4	27229	broad.mit.edu	37	15	43693986	43693986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43693986C>T	ENST00000260383.7	+	15	1926	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.R557*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4			21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)			TGAAAGCATCCGATTGGCTCA	0.423000																								0							SO:0001587	stop_gained			ENST00000260383.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	42	9.353226	0.99145	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.87	5.87	0.94306	.	0.126603	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.9544	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000260383:R557X	R	+	1	2	TUBGCP4	41481278	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.945000	0.56637	2.941000	0.99782	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	1	0	1	78	361	0	68	1	9.196091e-01	4	18	0	68	2		0	0	0	0	0	2	1	1	76	351	0	67	2								-2.565350	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TP53BP1	7158	broad.mit.edu	37	15	43705430	43705430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43705430T>G	ENST00000263801.3	-	24	5429	c.5177A>C	c.(5176-5178)aAg>aCg	p.K1726T	TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1			72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)			AAACAAGGTCTTGTTGAGAGG	0.562000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000263801.3	1	1	hg19	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392771	0.83011	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	6.03	6.03	0.97812	BRCT (3);	0.159621	0.56097	D	0.000022	D	0.91845	0.7419	L	0.54323	1.7	0.48185	D	0.999607	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.91443	0.5175	10	0.45353	T	0.12	-18.3041	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1726;1731;1729	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	T	1726;1731;1681;1729	ENSP00000263801:K1726T;ENSP00000371475:K1731T;ENSP00000371470:K1681T;ENSP00000393497:K1729T	ENSP00000263801:K1726T	K	-	2	0	TP53BP1	41492722	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.259000	0.51515	2.308000	0.77769	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3	1	0	1	42	190	0	62	1	9.999238e-01	22	46	0	62	2		0	0	0	0	0	2	1	1	42	190	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TP53BP1	7158	broad.mit.edu	37	15	43708516	43708516	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43708516A>G	ENST00000263801.3	-	22	5017	c.4765T>C	c.(4765-4767)Tcc>Ccc	p.S1589P	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1			72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)			TGCTCCAAGGACAGGATGACA	0.473000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000263801.3	1	1	hg19	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442899	0.83993	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.57	5.57	0.84162	Translation protein SH3-like, subgroup (1);Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.27053	0.805	0.58432	D	0.999997	D;D;D;D	0.76494	0.996;0.999;0.998;0.998	D;D;D;D	0.87578	0.993;0.998;0.996;0.996	T	0.63712	-0.6575	10	0.51188	T	0.08	-9.0154	16.0315	0.80582	1.0:0.0:0.0:0.0	.	1594;1589;1594;1594	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	P	1589;1594;1544;1594	ENSP00000263801:S1589P;ENSP00000371475:S1594P;ENSP00000371470:S1544P;ENSP00000393497:S1594P	ENSP00000263801:S1589P	S	-	1	0	TP53BP1	41495808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.745000	0.74860	2.247000	0.74100	0.482000	0.46254	TCC		TCGA-IB-7651-01A-11D-2154-08	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3	0	0	1	79	344	0	83	1	9.999987e-01	16	71	0	83	2		0	0	0	0	0	2	1	1	76	340	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TP53BP1	7158	broad.mit.edu	37	15	43713271	43713271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43713271C>T	ENST00000263801.3	-	20	4439	c.4187G>A	c.(4186-4188)cGt>cAt	p.R1396H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1			72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)			CCCACGCCCACGAGGCGTGAC	0.572000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000263801.3	1	1	hg19	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124623	0.77436	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000450115	T;T;T	0.16597	2.36;2.36;2.33	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.32530	0.975	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.991;0.982;0.992;0.992	T	0.04522	-1.0945	10	0.72032	D	0.01	-11.394	19.5806	0.95465	0.0:1.0:0.0:0.0	.	1401;1396;1401;1401	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1396;1401;1401	ENSP00000263801:R1396H;ENSP00000371475:R1401H;ENSP00000393497:R1401H	ENSP00000263801:R1396H	R	-	2	0	TP53BP1	41500563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.943000	0.70211	2.686000	0.91538	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3	0	0	1	127	539	0	103	1	9.999584e-01	10	53	0	103	2		0	0	0	0	0	2	1	1	123	519	0	102	2								-20.000000	1	1	121412	1	32	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1A	4130	broad.mit.edu	37	15	43816613	43816613	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816613A>G	ENST00000300231.5	+	4	3392	c.2942A>G	c.(2941-2943)gAg>gGg	p.E981G	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1219G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A			66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		Estramustine(DB01196)	GGAGAAGCAGAGGAGCGGTGC	0.552000																								0							SO:0001583	missense			ENST00000300231.5	1	1	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087952	0.36855	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02032	4.5;4.49;4.49	5.1	5.1	0.69264	.	.	.	.	.	T	0.13200	0.0320	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.00249	-1.1879	9	0.66056	D	0.02	-20.7677	15.0596	0.71942	1.0:0.0:0.0:0.0	.	981	P78559	MAP1A_HUMAN	G	1219;981;981	ENSP00000371462:E1219G;ENSP00000382380:E981G;ENSP00000300231:E981G	ENSP00000300231:E981G	E	+	2	0	MAP1A	41603905	1.000000	0.71417	0.996000	0.52242	0.518000	0.34316	8.729000	0.91490	2.137000	0.66172	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	1	0	1	119	586	0	157	0	9.991639e-01	0	53	0	157	2		0	0	0	0	0	2	1	1	118	575	0	156	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1A	4130	broad.mit.edu	37	15	43816999	43816999	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816999G>A	ENST00000300231.5	+	4	3778	c.3328G>A	c.(3328-3330)Ggc>Agc	p.G1110S	MAP1A_ENST00000382031.1_Missense_Mutation_p.G1348S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A			66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		Estramustine(DB01196)	AGAGCCCACAGGCCCAATTCT	0.507000																								0							SO:0001583	missense			ENST00000300231.5	1	1	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047335	0.19827	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.94	3.02	0.34903	.	.	.	.	.	T	0.02119	0.0066	M	0.65975	2.015	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.50276	-0.8847	9	0.09084	T	0.74	-0.3322	3.4006	0.07321	0.1578:0.1335:0.5714:0.1373	.	1110	P78559	MAP1A_HUMAN	S	1348;1110;1110	ENSP00000371462:G1348S;ENSP00000382380:G1110S;ENSP00000300231:G1110S	ENSP00000300231:G1110S	G	+	1	0	MAP1A	41604291	0.039000	0.19947	0.144000	0.22314	0.531000	0.34715	2.172000	0.42463	1.315000	0.45114	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	1	0	1	83	417	0	113	0	9.926046e-01	0	40	0	113	2		0	0	0	0	0	2	1	1	83	406	0	110	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1A	4130	broad.mit.edu	37	15	43817488	43817488	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43817488T>C	ENST00000300231.5	+	4	4267	c.3817T>C	c.(3817-3819)Tac>Cac	p.Y1273H	MAP1A_ENST00000382031.1_Missense_Mutation_p.Y1511H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A			66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		Estramustine(DB01196)	GACAACTCGATACTCTGCACA	0.537000																								0							SO:0001583	missense			ENST00000300231.5	1	1	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639184	0.29157	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01474	4.85;4.86;4.86	4.89	2.45	0.29901	.	.	.	.	.	T	0.01765	0.0056	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49390	-0.8945	9	0.15952	T	0.53	-2.1529	1.6221	0.02716	0.1669:0.1003:0.3468:0.3861	.	1273	P78559	MAP1A_HUMAN	H	1511;1273;1273	ENSP00000371462:Y1511H;ENSP00000382380:Y1273H;ENSP00000300231:Y1273H	ENSP00000300231:Y1273H	Y	+	1	0	MAP1A	41604780	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	0.119000	0.15626	0.855000	0.35359	0.460000	0.39030	TAC		TCGA-IB-7651-01A-11D-2154-08	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	1	0	1	52	266	0	57	0	9.763923e-01	0	33	0	57	2		0	0	0	0	0	2	1	1	51	260	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1A	4130	broad.mit.edu	37	15	43818982	43818982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43818982C>T	ENST00000300231.5	+	4	5761	c.5311C>T	c.(5311-5313)Cgc>Tgc	p.R1771C	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2009C|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A			66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		Estramustine(DB01196)	AGAGGTGGAGCGCTGGCTTGC	0.587000																								0							SO:0001583	missense			ENST00000300231.5	1	1	hg19	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006320	0.35415	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01947	4.54;4.54;4.55	4.46	4.46	0.54185	.	0.000000	0.34314	N	0.004061	T	0.04048	0.0113	L	0.32530	0.975	0.43512	D	0.995775	D	0.69078	0.997	P	0.52710	0.707	T	0.48387	-0.9040	10	0.72032	D	0.01	-0.4217	9.7751	0.40614	0.0:0.9038:0.0:0.0962	.	1771	P78559	MAP1A_HUMAN	C	2009;1771;1771	ENSP00000371462:R2009C;ENSP00000382380:R1771C;ENSP00000300231:R1771C	ENSP00000300231:R1771C	R	+	1	0	MAP1A	41606274	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.270000	0.33086	2.321000	0.78463	0.455000	0.32223	CGC		TCGA-IB-7651-01A-11D-2154-08	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	1	0	1	116	619	0	149	0	9.968765e-01	0	48	0	149	2		0	0	0	0	0	2	1	1	115	610	0	147	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPIP5K1	9677	broad.mit.edu	37	15	43873540	43873540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43873540G>T	ENST00000396923.3	-	8	945	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1			1					CAAAGCTGGAGATTTTCTAGC	0.493000																								0							SO:0001583	missense			ENST00000396923.3	1	1	hg19	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216593	0.79352	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.52295	0.68;0.72;1.33;0.72;0.67;0.67;0.68;1.33	4.74	4.74	0.60224	.	0.059970	0.64402	D	0.000002	T	0.77322	0.4113	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.84384	0.0551	10	0.87932	D	0	-13.8522	17.9907	0.89168	0.0:0.0:1.0:0.0	.	275;275;275;275	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	Y	275;275;275;275;275;275;275;275;275;275;276	ENSP00000371309:S275Y;ENSP00000353446:S275Y;ENSP00000353253:S275Y;ENSP00000334779:S275Y;ENSP00000380129:S275Y;ENSP00000400887:S275Y;ENSP00000371303:S275Y;ENSP00000308773:S275Y	ENSP00000304750:S275Y	S	-	2	0	PPIP5K1	41660832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.638000	0.98445	2.444000	0.82710	0.644000	0.83932	TCT		TCGA-IB-7651-01A-11D-2154-08	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	0	0	0	87	441	0	145	0	7.407197e-02	0	3	0	145	2		0	0	0	0	0	2	1	1	64	355	0	226	2								-4.686251	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRC	161497	broad.mit.edu	37	15	43897593	43897593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43897593G>A	ENST00000450892.2	-	19	3876	c.3799C>T	c.(3799-3801)Cag>Tag	p.Q1267*	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Nonsense_Mutation_p.Q494*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin			4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)			TCCATCAACTGGATCCTATTA	0.532000																								0							SO:0001587	stop_gained			ENST00000450892.2	0	1	hg19	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	38	7.279096	0.98182	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	.	.	.	5.46	3.59	0.41128	.	0.845936	0.10432	N	0.675342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	0.6165	8.9018	0.35499	0.1737:0.0:0.8263:0.0	.	.	.	.	X	1267;1267;494	.	ENSP00000299992:Q1267X	Q	-	1	0	STRC	41684885	0.133000	0.22466	0.020000	0.16555	0.230000	0.25150	1.498000	0.35660	0.795000	0.33922	0.556000	0.70494	CAG		TCGA-IB-7651-01A-11D-2154-08	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	1	0	0	3	49	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	8.064020e-01	3	48	0	13	2								-7.491751	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.720000	0.210000	1.000000	1.000000	0.713273	0.720000	0	4.200000e-01	1
STRC	161497	broad.mit.edu	37	15	43910165	43910165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43910165C>T	ENST00000450892.2	-	2	531	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin			4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)			GTAGGGGGGCCCCCAGGAACT	0.637000																								0							SO:0001583	missense			ENST00000450892.2	1	1	hg19	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795824	0.70452	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.78364	-1.17	5.05	5.05	0.67936	.	0.295993	0.27518	N	0.019002	T	0.66538	0.2799	N	0.24115	0.695	0.80722	D	1	P;P	0.44139	0.827;0.827	B;B	0.41510	0.359;0.359	T	0.66810	-0.5829	10	0.31617	T	0.26	-12.2091	13.9904	0.64362	0.0:1.0:0.0:0.0	.	152;152	E9PBT5;Q7RTU9	.;STRC_HUMAN	S	152;152;152;92	ENSP00000401513:G152S	ENSP00000299992:G152S	G	-	1	0	STRC	41697457	0.541000	0.26417	0.574000	0.28523	0.855000	0.48748	5.003000	0.63959	2.360000	0.80028	0.632000	0.83419	GGC		TCGA-IB-7651-01A-11D-2154-08	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	0	0	0	55	496	0	89	0	0	0	1	0	89	2		0	0	0	0	0	2	1	1	55	482	0	101	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.890000	1.000000	1.000000	0.992664	0.990000	1	9.900000e-01	1
CKMT1A	548596	broad.mit.edu	37	15	43990318	43990318	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43990318T>C	ENST00000413453.2	+	7	1507	c.983T>C	c.(982-984)gTg>gCg	p.V328A	CKMT1A_ENST00000434505.1_Missense_Mutation_p.V328A|STRC_ENST00000541030.1_Intron			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A			4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		Creatine(DB00148)	CGGGCAGGAGTGCACATCAAA	0.532000																								0							SO:0001583	missense			ENST00000413453.2	0	1	hg19	CCDS32217.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943072	0.73672	.	.	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.37058	1.22;1.22	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54275	-0.8318	7	0.66056	D	0.02	-3.3673	12.4039	0.55428	0.0:0.0:0.0:1.0	.	.	.	.	A	359;328;328	ENSP00000413165:V328A;ENSP00000406577:V328A	ENSP00000406577:V328A	V	+	2	0	CKMT1A	41777610	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.615000	0.83006	1.312000	0.45043	0.327000	0.21459	GTG		TCGA-IB-7651-01A-11D-2154-08	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1	0	0	0	100	458	0	96	1	8.774471e-01	18	1	0	96	2		0	0	0	0	0	2	1	1	92	393	0	168	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDIA3	2923	broad.mit.edu	37	15	44057696	44057696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44057696C>T	ENST00000300289.5	+	6	799	c.651C>T	c.(649-651)gaC>gaT	p.D217D	PDIA3_ENST00000538521.1_Silent_p.D197D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3			17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)			AGTTTGAGGACAAGACTGTGG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000300289.5	0	1	hg19	CCDS10101.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	0	0	0	18	709	0	147	1	1	67	3389	0	147	2		0	0	0	0	0	2	1	9.999760e-01	17	688	0	147	2								-2.960277	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.290000	0.170000	0.440000	0.290000	0.303220	0.290000	0	2.200000e-01	3.700000e-01
PDIA3	2923	broad.mit.edu	37	15	44059072	44059072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44059072C>A	ENST00000300289.5	+	8	1140	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3			17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)			ATCAGAACTGCTAAAGGAGAG	0.428000																								0							SO:0001583	missense			ENST00000300289.5	1	1	hg19	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391325	0.42410	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.30714	1.52;1.52	5.74	5.74	0.90152	Thioredoxin-like fold (1);	0.143545	0.64402	D	0.000007	T	0.34571	0.0902	M	0.61703	1.905	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.09377	0.004;0.004	T	0.14952	-1.0454	10	0.18276	T	0.48	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	311;331	G5EA52;P30101	.;PDIA3_HUMAN	D	331;306;105;311	ENSP00000300289:A331D;ENSP00000438260:A311D	ENSP00000300289:A331D	A	+	2	0	PDIA3	41846364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.937000	0.56575	2.683000	0.91414	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	1	0	0	27	575	0	125	1	1	70	1796	0	125	2		0	0	0	0	0	2	1	9.999999e-01	27	565	0	138	2								-4.549151	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.520000	0.350000	0.730000	0.530000	0.538555	0.520000	0	4.300000e-01	6.300000e-01
PDIA3	2923	broad.mit.edu	37	15	44062493	44062493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44062493G>A	ENST00000300289.5	+	11	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T|ELL3_ENST00000497465.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3			17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)			GGATGCCACAGCCAATGATGT	0.398000																								0							SO:0001583	missense			ENST00000300289.5	1	1	hg19	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477466	0.96291	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.23147	1.92;1.92	6.04	6.04	0.98038	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.089021	0.85682	D	0.000000	T	0.51278	0.1665	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	T	0.43940	-0.9360	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	418;438	G5EA52;P30101	.;PDIA3_HUMAN	T	438;413;212;418	ENSP00000300289:A438T;ENSP00000438260:A418T	ENSP00000300289:A438T	A	+	1	0	PDIA3	41849785	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	1	0	1	50	227	0	54	1	1	822	2249	0	54	2		0	0	0	0	0	2	1	1	49	220	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HYPK	25764	broad.mit.edu	37	15	44088365	44088365	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44088365G>A	ENST00000406925.1	+	0	26				MIR1282_ENST00000408865.1_RNA|SERINC4_ENST00000319327.6_Silent_p.S376S|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Silent_p.S132S|SERINC4_ENST00000299969.6_Missense_Mutation_p.A302V|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K					all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)			GAAACTCATAGCTGTAAACCT	0.468000																								0											ENST00000406925.1	1	0	hg19	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877537	0.33162	.	.	ENSG00000184716	ENST00000299969	T	0.26518	1.73	5.7	3.78	0.43462	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.80722	D	1	B	0.31077	0.307	B	0.28991	0.097	T	0.09618	-1.0666	8	0.02654	T	1	1.8637	10.4519	0.44526	0.0:0.2839:0.5776:0.1386	.	302	A6NM42	.	V	302	ENSP00000299969:A302V	ENSP00000299969:A302V	A	-	2	0	SERINC4	41875657	1.000000	0.71417	0.996000	0.52242	0.817000	0.46193	1.138000	0.31491	0.711000	0.32018	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	0	0	1	55	317	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	54	300	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FRMD5	84978	broad.mit.edu	37	15	44184228	44184228	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44184228A>C	ENST00000417257.1	-	8	855	c.679T>G	c.(679-681)Ttt>Gtt	p.F227V	FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V|FRMD5_ENST00000402883.1_Missense_Mutation_p.F227V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5			14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)			ACAAACCCAAAAGGAGTGAAG	0.448000																								0							SO:0001583	missense			ENST00000417257.1	1	1	hg19	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493163	0.26774	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.86432	-2.12;-2.12;-2.12	4.48	4.48	0.54585	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.137493	0.64402	D	0.000020	T	0.78162	0.4240	N	0.19112	0.55	0.80722	D	1	B;B	0.25850	0.136;0.136	B;B	0.23852	0.049;0.049	T	0.75909	-0.3151	10	0.42905	T	0.14	.	13.0247	0.58808	1.0:0.0:0.0:0.0	.	227;227	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	V	227;227;193	ENSP00000403067:F227V;ENSP00000384142:F227V;ENSP00000399684:F193V	ENSP00000384142:F227V	F	-	1	0	FRMD5	41971520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.341000	0.90046	2.011000	0.59026	0.377000	0.23210	TTT		TCGA-IB-7651-01A-11D-2154-08	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	0	0	1	59	254	1	57	0	9.592453e-02	0	3	1	57	2		0	0	0	0	0	2	1	9.999999e-01	58	251	1	57	18								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMD5	84978	broad.mit.edu	37	15	44216429	44216429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44216429G>A	ENST00000417257.1	-	2	357	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FRMD5_ENST00000484674.1_5'UTR|FRMD5_ENST00000402883.1_Missense_Mutation_p.R61C	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5			14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)			TCTACAAAGCGGATACCAAAA	0.428000																								0							SO:0001583	missense			ENST00000417257.1	1	1	hg19	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430422	0.83776	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	T;T;T	0.77620	-1.11;-1.11;-1.11	5.46	5.46	0.80206	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88666	0.3192	10	0.59425	D	0.04	.	16.8041	0.85621	0.0:0.0:1.0:0.0	.	61	Q7Z6J6	FRMD5_HUMAN	C	61;61;27	ENSP00000403067:R61C;ENSP00000384142:R61C;ENSP00000399684:R27C	ENSP00000384142:R61C	R	-	1	0	FRMD5	42003721	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.545000	0.60698	2.572000	0.86782	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	1	0	1	130	593	0	133	1	3.694357e-01	4	3	0	133	2		0	0	0	0	0	2	1	1	131	585	0	130	2								-2.962160	1	1	121412	2	38	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASC4	113201	broad.mit.edu	37	15	44581358	44581358	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44581358A>C	ENST00000345795.2	+	1	401	c.131A>C	c.(130-132)gAg>gCg	p.E44A	CASC4_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000299957.6_Missense_Mutation_p.E44A|CASC4_ENST00000429162.2_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4			17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)			CTGCTTCAGGAGGAGGTGGCC	0.662000																								0							SO:0001583	missense			ENST00000345795.2	1	1	hg19	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	A	33	5.276396	0.95459	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	.	.	.	5.42	5.42	0.78866	.	0.052169	0.85682	D	0.000000	T	0.68696	0.3029	L	0.53249	1.67	0.58432	D	0.999992	D;D;D	0.71674	0.993;0.998;0.998	P;P;D	0.65987	0.879;0.879;0.94	T	0.64786	-0.6325	9	0.21540	T	0.41	-17.9117	15.44	0.75176	1.0:0.0:0.0:0.0	.	44;44;44	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	A	44;44;44;44;23	.	ENSP00000299957:E44A	E	+	2	0	CASC4	42368650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.050000	0.60909	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	1	0	1	109	459	0	77	1	1	59	150	0	77	2		0	0	0	0	0	2	1	1	104	430	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASC4	113201	broad.mit.edu	37	15	44695169	44695169	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44695169T>C	ENST00000299957.6	+	9	1456	c.1157T>C	c.(1156-1158)gTa>gCa	p.V386A	CASC4_ENST00000360824.3_Intron|CASC4_ENST00000345795.2_Intron|RP11-516C1.1_ENST00000558047.1_RNA	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4			17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)			GATGGTAACGTAGGTGAGTAT	0.507000																								0							SO:0001583	missense			ENST00000299957.6	1	1	hg19	CCDS10108.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299781	0.81136	.	.	ENSG00000166734	ENST00000299957;ENST00000416522	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.73745	0.3626	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.68930	-0.5279	9	0.07813	T	0.8	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	386;386	G5E934;Q6P4E1	.;CASC4_HUMAN	A	386;365	.	ENSP00000299957:V386A	V	+	2	0	CASC4	42482461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.993000	0.88291	2.326000	0.78906	0.533000	0.62120	GTA		TCGA-IB-7651-01A-11D-2154-08	CASC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253815.1	1	0	1	46	176	0	51	1	1	130	272	0	51	2		0	0	0	0	0	2	1	1	44	171	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPG11	80208	broad.mit.edu	37	15	44855412	44855412	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44855412C>T	ENST00000261866.7	-	40	7255	c.7239G>A	c.(7237-7239)aaG>aaA	p.K2413K	SPG11_ENST00000535302.2_Silent_p.K2300K|SPG11_ENST00000427534.2_3'UTR	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)			72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)			CGTATGCCAACTTGTAATACA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000261866.7	1	1	hg19	CCDS10112.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1	1	0	1	66	233	0	72	1	1	28	97	0	72	2		0	0	0	0	0	2	1	1	66	229	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPG11	80208	broad.mit.edu	37	15	44951421	44951421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44951421G>A	ENST00000261866.7	-	3	539	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	SPG11_ENST00000535302.2_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y|SPG11_ENST00000427534.2_Missense_Mutation_p.H175Y|SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)			72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)			AATATAATATGTAGGATGACA	0.368000																								0							SO:0001583	missense			ENST00000261866.7	1	1	hg19	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483901	0.26598	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78126	-1.15;-0.89;-0.89	5.99	4.13	0.48395	.	0.589894	0.18157	N	0.149885	T	0.75064	0.3799	L	0.55481	1.735	0.09310	N	1	P;P;P;P	0.45827	0.776;0.787;0.867;0.467	B;B;B;B	0.44044	0.306;0.419;0.439;0.244	T	0.67245	-0.5719	10	0.66056	D	0.02	.	11.0246	0.47739	0.1441:0.0:0.8559:0.0	.	175;175;175;175	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	Y	175	ENSP00000261866:H175Y;ENSP00000445278:H175Y;ENSP00000396110:H175Y	ENSP00000261866:H175Y	H	-	1	0	SPG11	42738713	0.115000	0.22152	0.004000	0.12327	0.031000	0.12232	1.881000	0.39638	0.890000	0.36211	-0.156000	0.13503	CAT		TCGA-IB-7651-01A-11D-2154-08	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1	0	0	0	10	360	0	63	1	4.819196e-01	2	54	0	63	2		0	0	0	0	0	2	1	9.965265e-01	10	350	0	63	2								-9.948226	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.320000	0.160000	0.550000	0.310000	0.341726	0.320000	0	2.300000e-01	4.400000e-01
TRIM69	140691	broad.mit.edu	37	15	45050992	45050992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45050992G>T	ENST00000559390.1	+	5	1681	c.753G>T	c.(751-753)aaG>aaT	p.K251N	TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000558329.1_Missense_Mutation_p.K47N|TRIM69_ENST00000329464.4_Missense_Mutation_p.K251N|TRIM69_ENST00000338264.4_Missense_Mutation_p.K92N|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_Missense_Mutation_p.K47N			Q86WT6	TRI69_HUMAN	tripartite motif containing 69			20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)			TCTTAGCCAAGGATATGTTGG	0.453000													Pancreas(84;519 1450 1802 20427 34706)											0							SO:0001583	missense			ENST00000559390.1	0	1	hg19	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004820	0.54254	2.27E-4	0.0	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.57107	1.07;0.42	5.97	2.82	0.32997	.	0.201253	0.35040	N	0.003492	T	0.57651	0.2068	L	0.36672	1.1	0.32131	N	0.586813	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77004	0.984;0.989;0.959	T	0.61367	-0.7077	10	0.39692	T	0.17	.	8.6543	0.34053	0.194:0.0:0.806:0.0	.	47;92;251	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	N	251;92	ENSP00000332284:K251N;ENSP00000342922:K92N	ENSP00000332284:K251N	K	+	3	2	TRIM69	42838284	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	2.160000	0.42348	0.296000	0.22592	0.591000	0.81541	AAG		TCGA-IB-7651-01A-11D-2154-08	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1	0	0	0	6	163	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	9.645257e-01	6	161	0	34	2								-8.329174	1	1	121412	1	30	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.430000	0.180000	0.820000	0.410000	0.464900	0.430000	0	2.900000e-01	6.300000e-01
TRIM69	140691	broad.mit.edu	37	15	45059546	45059546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45059546G>A	ENST00000559390.1	+	8	2007	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K|TRIM69_ENST00000558173.1_Missense_Mutation_p.R156K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69			20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)			GATCCTGAGAGGTTTGACTCA	0.478000													Pancreas(84;519 1450 1802 20427 34706)											0							SO:0001583	missense			ENST00000559390.1	1	1	hg19	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675339	0.88445	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.58506	0.33;0.33	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000003	T	0.77350	0.4117	M	0.85373	2.75	0.37631	D	0.921682	D;D;D	0.64830	0.965;0.994;0.991	P;D;P	0.63877	0.838;0.919;0.9	T	0.82190	-0.0580	10	0.52906	T	0.07	.	16.8968	0.86102	0.0:0.0:1.0:0.0	.	139;201;360	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	K	360;201	ENSP00000332284:R360K;ENSP00000342922:R201K	ENSP00000332284:R360K	R	+	2	0	TRIM69	42846838	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.784000	0.99039	2.589000	0.87451	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1	1	0	1	117	575	0	130	0	2.032009e-01	0	5	0	130	2		0	0	0	0	0	2	1	1	115	558	0	130	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUOX2	50506	broad.mit.edu	37	15	45394056	45394056	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45394056C>T	ENST00000603300.1	-	21	2988	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R929Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2			63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			GTCATGGTCCCGCAGCATGAA	0.587000																								0							SO:0001583	missense			ENST00000603300.1	0	1	hg19	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506816	0.64410	.	.	ENSG00000140279	ENST00000389039	.	.	.	6.08	6.08	0.98989	EF-hand-like domain (1);	0.312746	0.33534	N	0.004807	T	0.29389	0.0732	N	0.22421	0.69	0.49051	D	0.999741	P;P	0.47604	0.812;0.898	B;B	0.35073	0.105;0.195	T	0.06954	-1.0798	9	0.23302	T	0.38	-29.9214	12.8954	0.58095	0.0:0.9266:0.0:0.0734	.	929;491	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	Q	929	.	ENSP00000373691:R929Q	R	-	2	0	DUOX2	43181348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.477000	0.45180	2.894000	0.99253	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	9	330	0	69	1	9.999092e-01	24	690	0	69	2		0	0	0	0	0	2	1	9.931912e-01	8	317	0	68	2								-2.529300	1	1	121412	1	29	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.320000	0.150000	0.550000	0.310000	0.338479	0.320000	0	2.200000e-01	4.400000e-01
DUOXA2	405753	broad.mit.edu	37	15	45408806	45408806	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45408806G>A	ENST00000323030.5	+	4	718	c.433G>A	c.(433-435)Gca>Aca	p.A145T	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			GTACGCGAACGCACTGGAGAA	0.607000																								0							SO:0001583	missense			ENST00000323030.5	1	1	hg19	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031029	0.75504	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.62232	0.04	5.58	5.58	0.84498	.	0.106984	0.64402	D	0.000006	T	0.81403	0.4815	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.83964	0.0323	10	0.72032	D	0.01	-18.6423	18.5627	0.91107	0.0:0.0:1.0:0.0	.	145	Q1HG44	DOXA2_HUMAN	T	145;100	ENSP00000319705:A145T	ENSP00000319705:A145T	A	+	1	0	DUOXA2	43196098	1.000000	0.71417	0.122000	0.21767	0.005000	0.04900	5.750000	0.68712	2.633000	0.89246	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	1	0	1	61	257	0	102	1	1	163	272	0	102	2		0	0	0	0	0	2	1	1	60	252	0	102	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUOX1	53905	broad.mit.edu	37	15	45431796	45431796	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45431796C>T	ENST00000321429.4	+	13	1795	c.1388C>T	c.(1387-1389)aCt>aTt	p.T463I	DUOX1_ENST00000389037.3_Splice_Site_p.T463I|DUOX1_ENST00000561166.1_Splice_Site_p.T109I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1			57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			AGCAATGACACTGTGAGGAGG	0.602000																								0							SO:0001630	splice_region_variant			ENST00000321429.4	1	0	hg19	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886650	0.17540	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73152	-0.72;-0.72	5.72	2.71	0.32032	.	0.243293	0.39909	N	0.001234	T	0.52964	0.1767	N	0.25647	0.755	0.32324	N	0.562014	B	0.02656	0.0	B	0.10450	0.005	T	0.55535	-0.8126	10	0.54805	T	0.06	-0.7355	6.0181	0.19615	0.1547:0.6792:0.0:0.1661	.	463	Q9NRD9	DUOX1_HUMAN	I	463	ENSP00000317997:T463I;ENSP00000373689:T463I	ENSP00000317997:T463I	T	+	2	0	DUOX1	43219088	0.017000	0.18338	0.747000	0.31113	0.149000	0.21700	0.147000	0.16202	0.846000	0.35142	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1	32	152	0	40	1	9.398644e-01	8	17	0	40	2		0	0	0	0	0	2	1	1	32	152	0	37	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
DUOX1	53905	broad.mit.edu	37	15	45437193	45437193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45437193G>A	ENST00000321429.4	+	19	2644	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1			57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			TGGGAGCTGCGGGAGCAGGAG	0.597000																								0							SO:0001583	missense			ENST00000321429.4	1	1	hg19	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723706	0.30593	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85484	-1.99;-1.99	4.81	3.9	0.45041	.	0.255145	0.43260	D	0.000594	T	0.76688	0.4022	L	0.48642	1.525	0.35635	D	0.810526	P	0.46656	0.882	B	0.41332	0.354	T	0.75966	-0.3131	10	0.14252	T	0.57	-18.0719	7.5208	0.27626	0.1912:0.0:0.8088:0.0	.	746	Q9NRD9	DUOX1_HUMAN	Q	746	ENSP00000317997:R746Q;ENSP00000373689:R746Q	ENSP00000317997:R746Q	R	+	2	0	DUOX1	43224485	0.961000	0.32948	0.992000	0.48379	0.898000	0.52572	1.737000	0.38197	1.388000	0.46506	-0.140000	0.14226	CGG		TCGA-IB-7651-01A-11D-2154-08	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1	114	526	0	117	1	9.900778e-01	12	22	0	117	2		0	0	0	0	0	2	1	1	112	515	0	116	2								-2.441705	0	1	121412	2	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUOX1	53905	broad.mit.edu	37	15	45444185	45444185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45444185G>A	ENST00000321429.4	+	25	3535	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H|DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1			57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			AACTACCGGCGCCACATCGGC	0.587000																								0							SO:0001583	missense			ENST00000321429.4	1	1	hg19	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103198	0.94245	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87179	-2.22;-2.22	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.932	D	0.92687	0.6163	10	0.66056	D	0.02	-27.6461	14.3394	0.66614	0.0:0.0:1.0:0.0	.	176;1043	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	H	1043	ENSP00000317997:R1043H;ENSP00000373689:R1043H	ENSP00000317997:R1043H	R	+	2	0	DUOX1	43231477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.511000	0.98006	2.302000	0.77476	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1	39	199	0	40	1	8.918829e-01	12	10	0	40	2		0	0	0	0	0	2	1	1	39	192	0	40	2								-20.000000	1	1	121412	2	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
DUOX1	53905	broad.mit.edu	37	15	45448079	45448079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45448079C>A	ENST00000321429.4	+	29	4061	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.F1218L|DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1			57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			GCCGCAGTTTCCGGGGCTTCT	0.582000																								0							SO:0001583	missense			ENST00000321429.4	0	1	hg19	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.902934	0.72754	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.91011	-2.77;-2.77	4.11	3.18	0.36537	Flavoprotein transmembrane component (1);	0.047507	0.85682	D	0.000000	D	0.95686	0.8597	H	0.96889	3.9	0.80722	D	1	D	0.55385	0.971	P	0.62435	0.902	D	0.94539	0.7743	10	0.87932	D	0	-28.569	6.4686	0.21995	0.0:0.7793:0.0:0.2207	.	1218	Q9NRD9	DUOX1_HUMAN	L	1218	ENSP00000317997:F1218L;ENSP00000373689:F1218L	ENSP00000317997:F1218L	F	+	3	2	DUOX1	43235371	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.141000	0.31528	1.050000	0.40346	0.563000	0.77884	TTC		TCGA-IB-7651-01A-11D-2154-08	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	0	0	0	12	583	0	107	0	2.571462e-01	1	44	0	107	2		0	0	0	0	0	2	1	9.989585e-01	12	566	0	105	2								-3.008895	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.240000	0.120000	0.390000	0.240000	0.252949	0.240000	0	1.700000e-01	3.200000e-01
DUOX1	53905	broad.mit.edu	37	15	45453117	45453117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45453117G>T	ENST00000321429.4	+	30	4192	c.3785G>T	c.(3784-3786)gGc>gTc	p.G1262V	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V|DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1			57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			ATCTATGGGGGCGACAAGCTG	0.577000																								0							SO:0001583	missense			ENST00000321429.4	1	1	hg19	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487774	0.26686	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85773	-2.03;-2.03	3.47	3.47	0.39725	.	0.341780	0.30869	N	0.008712	T	0.78729	0.4329	L	0.49256	1.55	0.51767	D	0.999938	B	0.31174	0.311	B	0.29524	0.103	T	0.74216	-0.3737	10	0.15952	T	0.53	-26.5883	12.8006	0.57584	0.0:0.0:1.0:0.0	.	1262	Q9NRD9	DUOX1_HUMAN	V	1262	ENSP00000317997:G1262V;ENSP00000373689:G1262V	ENSP00000317997:G1262V	G	+	2	0	DUOX1	43240409	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.581000	0.53914	1.920000	0.55613	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1	105	402	0	103	1	9.995757e-01	28	18	0	103	2		0	0	0	0	0	2	1	1	104	399	0	103	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUOX1	53905	broad.mit.edu	37	15	45455749	45455749	+	Missense_Mutation	SNP	C	C	T	rs140681354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455749C>T	ENST00000321429.4	+	33	4675	c.4268C>T	c.(4267-4269)aCg>aTg	p.T1423M	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M|DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1			57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			ATCTGGGTGACGCGGACCCAG	0.562000											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000321429.4	1	1	hg19	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487713	0.84854	4.55E-4	0.0	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95342	-3.68;-3.68	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98119	1.0424	10	0.87932	D	0	-10.2487	14.4383	0.67298	0.0:1.0:0.0:0.0	.	1423	Q9NRD9	DUOX1_HUMAN	M	1423	ENSP00000317997:T1423M;ENSP00000373689:T1423M	ENSP00000317997:T1423M	T	+	2	0	DUOX1	43243041	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	5.894000	0.69806	2.243000	0.73865	0.491000	0.48974	ACG		TCGA-IB-7651-01A-11D-2154-08	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1	45	272	0	86	1	9.273450e-01	12	17	0	86	2		0	0	0	0	0	2	1	1	43	264	0	81	2								-20.000000	1	1	121412	7	39	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
DUOX1	53905	broad.mit.edu	37	15	45455883	45455883	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455883C>A	ENST00000321429.4	+	33	4809	c.4402C>A	c.(4402-4404)Ctg>Atg	p.L1468M	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M|DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1			57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			GACCACTATGCTGGTATGTCA	0.567000											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000321429.4	1	1	hg19	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094597	0.56075	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95035	-3.59;-3.59	4.36	1.21	0.21127	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000001	D	0.95971	0.8688	M	0.77313	2.365	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.94379	0.7603	10	0.87932	D	0	-13.5525	7.5385	0.27725	0.0:0.674:0.0:0.326	.	1468	Q9NRD9	DUOX1_HUMAN	M	1468	ENSP00000317997:L1468M;ENSP00000373689:L1468M	ENSP00000317997:L1468M	L	+	1	2	DUOX1	43243175	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.069000	0.41481	0.474000	0.27392	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	1	0	1	84	361	0	140	1	9.802022e-01	8	21	0	140	2		0	0	0	0	0	2	1	1	83	348	0	139	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA6D	80031	broad.mit.edu	37	15	48055280	48055280	+	Silent	SNP	C	C	T	rs141276774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48055280C>T	ENST00000316364.5	+	9	1165	c.726C>T	c.(724-726)gtC>gtT	p.V242V	SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	p.V242V(1)		77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)			AAATCGCTGTCGAACATAATA	0.363000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000316364.5	1	1	hg19	CCDS32225.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	1	0	1	26	150	0	32	0	5.560699e-01	1	11	0	32	2		0	0	0	0	0	2	1	1	26	149	0	32	2								-14.495310	1	1	121366	1	32	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999728	0.990000	1	9.900000e-01	1
SEMA6D	80031	broad.mit.edu	37	15	48056061	48056061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48056061C>T	ENST00000316364.5	+	10	1201	c.762C>T	c.(760-762)cgC>cgT	p.R254R	SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D			77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)			TGTATTCCCGCGTGGCCCGCA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000316364.5	1	1	hg19	CCDS32225.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	1	0	1	163	676	0	181	0	1.728490e-01	1	3	0	181	2		0	0	0	0	0	2	1	1	162	662	0	178	2								-20.000000	1	1	121412	2	39	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC24A5	283652	broad.mit.edu	37	15	48414088	48414088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48414088G>A	ENST00000341459.3	+	2	229	c.156G>A	c.(154-156)tcG>tcA	p.S52S	SLC24A5_ENST00000482911.2_Silent_p.S52S|SLC24A5_ENST00000449382.2_Intron	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5			27		all_lung(180;0.00217)			CTCCATCATCGGAGTTTCCCG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000341459.3	1	1	hg19	CCDS10128.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	1	0	1	88	400	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	86	392	0	94	2								-2.710746	1	1	121412	1	29	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC24A5	283652	broad.mit.edu	37	15	48426538	48426538	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48426538G>A	ENST00000341459.3	+	3	458	c.385G>A	c.(385-387)Ggt>Agt	p.G129S	SLC24A5_ENST00000449382.2_Splice_Site_p.G69S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5			27		all_lung(180;0.00217)			TGCTTTCCTAGGTAAATATTG	0.388000																								0							SO:0001630	splice_region_variant			ENST00000341459.3	1	0	hg19	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424352	0.96111	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.61040	0.14;0.14	5.65	5.65	0.86999	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68337	-0.5435	10	0.40728	T	0.16	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	69;129	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	S	129;69	ENSP00000341550:G129S;ENSP00000389966:G69S	ENSP00000341550:G129S	G	+	1	0	SLC24A5	46213830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.262000	0.95591	2.941000	0.99782	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	1	0	1	74	385	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	72	378	0	102	2								-2.849880	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYEF2	50804	broad.mit.edu	37	15	48441415	48441415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48441415C>T	ENST00000324324.7	-	15	1811	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2			31		all_lung(180;0.00217)			CATTCCGCTTCCCATTGGACC	0.393000																								0							SO:0001583	missense			ENST00000324324.7	1	1	hg19	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417490	0.62622	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.26660	2.21;1.72	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.65573	0.936;0.864	T	0.38929	-0.9638	10	0.72032	D	0.01	-10.7172	18.4822	0.90817	0.0:1.0:0.0:0.0	.	487;511	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	511;487;99	ENSP00000316950:G511E;ENSP00000267836:G487E	ENSP00000267836:G487E	G	-	2	0	MYEF2	46228707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.477000	0.60223	2.539000	0.85634	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	1	0	1	134	555	0	110	0	4.822243e-01	0	8	0	110	2		0	0	0	0	0	2	1	1	131	541	0	107	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A1	6557	broad.mit.edu	37	15	48537060	48537060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48537060C>T	ENST00000558405.1	+	10	1425	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000396577.3_Nonsense_Mutation_p.R471*			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1			59		all_lung(180;0.00219)		Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCAAGATGTCGACATGAACC	0.423000																								0							SO:0001587	stop_gained			ENST00000558405.1	0	1	hg19	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889681	0.91889	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	.	.	.	5.58	3.45	0.39498	.	1.009920	0.07935	N	0.978155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.2468	0.06799	0.22:0.3429:0.3488:0.0882	.	.	.	.	X	284;471;471	.	ENSP00000370381:R471X	R	+	1	2	SLC12A1	46324352	0.000000	0.05858	0.852000	0.33557	0.672000	0.39443	0.158000	0.16422	2.642000	0.89623	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1	1	0	1	30	168	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	30	165	0	45	2								-15.793530	1	1	121408	3	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
DUT	1854	broad.mit.edu	37	15	48628255	48628255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48628255G>A	ENST00000331200.3	+	4	617	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DUT_ENST00000559540.1_Missense_Mutation_p.G87D|DUT_ENST00000559935.1_Missense_Mutation_p.G90D|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000561350.1_3'UTR|DUT_ENST00000558813.1_Missense_Mutation_p.G64D	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase			2		all_lung(180;0.00265)			CCACGGTCAGGCTTGGCTGCA	0.328000								Modulation of nucleotide pools																0							SO:0001583	missense			ENST00000331200.3	1	1	hg19	CCDS32231.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357620	0.82243	0.0	1.16E-4	ENSG00000128951	ENST00000331200;ENST00000450740;ENST00000249783;ENST00000455976	T;T	0.61274	0.12;0.35	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91393	0.5137	10	0.87932	D	0	.	17.9865	0.89157	0.0:0.0:1.0:0.0	.	87;175	P33316-2;P33316	.;DUT_HUMAN	D	175;64;173;87	ENSP00000370376:G175D;ENSP00000405160:G87D	ENSP00000249783:G173D	G	+	2	0	DUT	46415547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.631000	0.83237	2.607000	0.88179	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	DUT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417142.2	1	0	1	51	235	0	68	1	1	90	218	0	68	2		0	0	0	0	0	2	1	1	51	232	0	68	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN1	2200	broad.mit.edu	37	15	48703398	48703398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48703398C>T	ENST00000316623.5	-	66	8860	c.8405G>A	c.(8404-8406)gGc>gAc	p.G2802D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			TTTAAAGAAGCCATCTTCATT	0.423000																								0							SO:0001583	missense			ENST00000316623.5	1	1	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775808	0.70107	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.75615	2.305	0.80722	D	1	P	0.48834	0.916	P	0.48166	0.569	D	0.86549	0.1833	10	0.59425	D	0.04	.	18.5303	0.90989	0.0:1.0:0.0:0.0	.	2802	P35555	FBN1_HUMAN	D	2802	ENSP00000325527:G2802D	ENSP00000325527:G2802D	G	-	2	0	FBN1	46490690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.585000	0.82584	2.785000	0.95823	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	0	56	640	0	114	0	1	0	653	0	114	2		0	0	0	0	0	2	1	1	55	631	0	113	2								-13.799590	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.930000	0.720000	1.000000	1.000000	0.922039	0.930000	1	8.200000e-01	1
FBN1	2200	broad.mit.edu	37	15	48704816	48704816	+	Missense_Mutation	SNP	G	G	A	rs61746008	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48704816G>A	ENST00000316623.5	-	65	8631	c.8176C>T	c.(8176-8178)Cgg>Tgg	p.R2726W	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			TTCCTGCCCCGTTTGGGGTAG	0.517000																								0		GRCh37	CM950453	FBN1	M	rs61746008	SO:0001583	missense			ENST00000316623.5	1	1	hg19	CCDS32232.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.11	3.306873	0.60305	0.001137	0.001047	ENSG00000166147	ENST00000316623	D	0.83591	-1.74	5.38	1.03	0.20045	Growth factor, receptor (1);	0.104411	0.64402	D	0.000004	T	0.79275	0.4418	M	0.69823	2.125	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.74785	-0.3547	10	0.87932	D	0	.	9.5746	0.39450	0.0692:0.0:0.3942:0.5366	.	2726	P35555	FBN1_HUMAN	W	2726	ENSP00000325527:R2726W	ENSP00000325527:R2726W	R	-	1	2	FBN1	46492108	1.000000	0.71417	0.888000	0.34837	0.873000	0.50193	2.367000	0.44213	0.348000	0.23949	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	155	598	0	164	0	1	1	575	0	164	2		0	0	0	0	0	2	1	1	152	588	0	161	2								-2.981921	1	1	121412	89	55	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN1	2200	broad.mit.edu	37	15	48718062	48718062	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48718062C>A	ENST00000316623.5	-	59	7660		c.e59-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	p.?(1)		139		all_lung(180;0.00279)			TCATCGATATCTGTAATTTAA	0.313000																								1	Unknown(1)						SO:0001630	splice_region_variant			ENST00000316623.5	1	1	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525982	0.64860	.	.	ENSG00000166147	ENST00000316623	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46505354	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	7.601000	0.82783	2.941000	0.99782	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	29	153	0	42	0	2.732080e-02	0	2	0	42	2		0	0	0	0	0	2	1	1	29	148	0	42	2								-3.008604	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999946	0.990000	1	9.900000e-01	1
FBN1	2200	broad.mit.edu	37	15	48720570	48720570	+	Missense_Mutation	SNP	C	C	T	rs148831709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48720570C>T	ENST00000316623.5	-	57	7425	c.6970G>A	c.(6970-6972)Gcc>Acc	p.A2324T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			TTGGGGCTGGCGGTAAACCCA	0.542000																								0							SO:0001583	missense			ENST00000316623.5	1	1	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590464	0.28357	0.0	1.16E-4	ENSG00000166147	ENST00000316623;ENST00000389087	D	0.91996	-2.95	5.76	2.81	0.32909	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.202371	0.51477	D	0.000092	D	0.85017	0.5601	N	0.21448	0.665	0.80722	D	1	B	0.21381	0.055	B	0.14578	0.011	T	0.75393	-0.3333	10	0.12766	T	0.61	.	16.8327	0.85949	0.0:0.6384:0.3616:0.0	.	2324	P35555	FBN1_HUMAN	T	2324;892	ENSP00000325527:A2324T	ENSP00000325527:A2324T	A	-	1	0	FBN1	46507862	0.078000	0.21339	0.390000	0.26220	0.652000	0.38707	0.390000	0.20768	0.335000	0.23614	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	0	23	223	0	41	0	1	1	501	0	41	2		0	0	0	0	0	2	1	9.999994e-01	23	217	0	42	2								-2.966613	1	1	121410	1	34	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.720000	1.000000	1.000000	0.961139	0.990000	1	8.900000e-01	1
FBN1	2200	broad.mit.edu	37	15	48760266	48760266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48760266C>T	ENST00000316623.5	-	38	5071	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	p.R1539Q(1)		139		all_lung(180;0.00279)			TCCTCGAGGTCGAATATCCAA	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000316623.5	1	1	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859345	0.17178	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94330	-3.4	5.14	5.14	0.70334	Matrix fibril-associated (2);TGF-beta binding (1);	0.377581	0.28109	N	0.016571	T	0.75027	0.3794	N	0.01168	-0.975	0.20638	N	0.999871	B	0.30104	0.268	B	0.12156	0.007	T	0.65721	-0.6099	10	0.13108	T	0.6	.	6.5554	0.22458	0.0:0.7894:0.0:0.2106	.	1539	P35555	FBN1_HUMAN	Q	1539;107;429	ENSP00000325527:R1539Q	ENSP00000325527:R1539Q	R	-	2	0	FBN1	46547558	0.379000	0.25123	0.843000	0.33291	0.973000	0.67179	0.989000	0.29629	2.684000	0.91462	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	82	347	0	89	0	1	0	442	0	89	2		0	0	0	0	0	2	1	1	82	343	0	89	2								-3.402468	1	1	121412	1	36	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN1	2200	broad.mit.edu	37	15	48779354	48779354	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779354G>A	ENST00000316623.5	-	29	3962	c.3507C>T	c.(3505-3507)ggC>ggT	p.G1169G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			TCACGCAACGGCCATTGGGGC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000316623.5	1	1	hg19	CCDS32232.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	37	192	0	51	0	1	0	326	0	51	2		0	0	0	0	0	2	1	1	37	186	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
FBN1	2200	broad.mit.edu	37	15	48787772	48787772	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48787772G>A	ENST00000316623.5	-	21	2888	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			GACTTGATTCGCATTCATCAA	0.383000																								0		GRCh37	CM042037	FBN1	M		SO:0001819	synonymous_variant			ENST00000316623.5	1	1	hg19	CCDS32232.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	138	730	0	196	0	1	0	311	0	196	2		0	0	0	0	0	2	1	1	136	719	0	195	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN1	2200	broad.mit.edu	37	15	48812972	48812972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48812972C>T	ENST00000316623.5	-	10	1486	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			GTTAGAGCAGCGCCCGTTTGT	0.517000																								0							SO:0001583	missense			ENST00000316623.5	1	1	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569925	0.96540	.	.	ENSG00000166147	ENST00000316623	D	0.93426	-3.22	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94643	0.7832	10	0.37606	T	0.19	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	344	P35555	FBN1_HUMAN	H	344	ENSP00000325527:R344H	ENSP00000325527:R344H	R	-	2	0	FBN1	46600264	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.939000	0.56591	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	44	207	0	55	0	1	0	270	0	55	2		0	0	0	0	0	2	1	1	44	201	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN1	2200	broad.mit.edu	37	15	48905247	48905247	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48905247A>G	ENST00000316623.5	-	3	662	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			TTTTCCATCCAGGGCAACAGT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000316623.5	1	1	hg19	CCDS32232.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	75	326	0	111	0	1	0	154	0	111	2		0	0	0	0	0	2	1	1	73	320	0	109	2								-20.000000	1	1	121270	2	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49030524	49030524	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49030524C>A	ENST00000380950.2	-	27	5242	c.5055G>T	c.(5053-5055)caG>caT	p.Q1685H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa			63		all_lung(180;0.0428)			TTCTTGAAGGCTGCTGACACA	0.373000																								0							SO:0001583	missense			ENST00000380950.2	1	1	hg19	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923478	0.73213	.	.	ENSG00000103995	ENST00000399334	T	0.54675	0.56	4.76	3.85	0.44370	.	0.363112	0.20109	N	0.099049	T	0.41743	0.1172	L	0.27053	0.805	0.26648	N	0.972153	P	0.45827	0.867	P	0.44946	0.465	T	0.24119	-1.0169	10	0.46703	T	0.11	-0.917	8.8499	0.35192	0.0:0.7633:0.0:0.2367	.	1629	O94986	CE152_HUMAN	H	1629	ENSP00000382271:Q1629H	ENSP00000382271:Q1629H	Q	-	3	2	CEP152	46817816	0.014000	0.17966	0.403000	0.26384	0.717000	0.41224	0.208000	0.17415	1.231000	0.43661	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1	42	332	0	68	1	2.756153e-01	2	7	0	68	2		0	0	0	0	0	2	1	1	42	330	0	68	2								-16.265350	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.997783	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49054658	49054658	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49054658G>T	ENST00000380950.2	-	18	2679	c.2492C>A	c.(2491-2493)gCc>gAc	p.A831D	CEP152_ENST00000325747.5_Missense_Mutation_p.A738D|CEP152_ENST00000399334.3_Missense_Mutation_p.A831D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa			63		all_lung(180;0.0428)			CCCCTTGATGGCTATGTCCTT	0.358000																								0							SO:0001583	missense			ENST00000380950.2	1	1	hg19	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256788	0.39896	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.69806	-0.43;-0.39;-0.36	5.18	4.27	0.50696	.	0.173091	0.50627	D	0.000120	T	0.77903	0.4200	M	0.71581	2.175	0.09310	N	0.999998	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.71414	0.973;0.858;0.907	T	0.68655	-0.5351	10	0.48119	T	0.1	-2.873	10.953	0.47341	0.0867:0.0:0.9133:0.0	.	738;831;831	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	831;738;831	ENSP00000370337:A831D;ENSP00000321000:A738D;ENSP00000382271:A831D	ENSP00000321000:A738D	A	-	2	0	CEP152	46841950	0.008000	0.16893	0.008000	0.14137	0.349000	0.29174	1.461000	0.35255	1.562000	0.49601	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1	94	412	0	102	1	2.361060e-01	2	3	0	102	2		0	0	0	0	0	2	1	1	93	407	0	102	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49059316	49059316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49059316C>T	ENST00000380950.2	-	17	2408	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	CEP152_ENST00000325747.5_Missense_Mutation_p.D648N|CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000399334.3_Missense_Mutation_p.D741N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa			63		all_lung(180;0.0428)			TCTAGATTATCCTTCTCTCTG	0.418000																								0							SO:0001583	missense			ENST00000380950.2	1	1	hg19	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086811	0.94100	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.27;0.32;0.26	5.45	5.45	0.79879	.	0.216802	0.45361	D	0.000361	T	0.76212	0.3956	M	0.77103	2.36	0.45076	D	0.998092	P;D;D	0.89917	0.925;1.0;0.992	P;D;P	0.68943	0.691;0.961;0.891	T	0.77456	-0.2581	10	0.54805	T	0.06	-16.5704	17.4356	0.87550	0.0:1.0:0.0:0.0	.	648;741;741	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	741;648;741	ENSP00000370337:D741N;ENSP00000321000:D648N;ENSP00000382271:D741N	ENSP00000321000:D648N	D	-	1	0	CEP152	46846608	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	5.358000	0.66064	2.716000	0.92895	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1	165	688	0	143	1	6.586200e-01	2	9	0	143	2		0	0	0	0	0	2	1	1	161	679	0	143	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49064749	49064749	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064749C>A	ENST00000380950.2	-	13	1904	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa			63		all_lung(180;0.0428)			TTATGACAGTCTTTGAGGTCA	0.378000																								0							SO:0001583	missense			ENST00000380950.2	1	1	hg19	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567788	0.86439	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80653	-1.4;-1.4;-1.4	5.78	2.74	0.32292	.	1.094050	0.06685	N	0.768702	D	0.84906	0.5576	M	0.62723	1.935	0.09310	N	0.999993	D;D;D	0.63880	0.993;0.974;0.988	P;P;P	0.58873	0.847;0.8;0.847	T	0.68387	-0.5422	10	0.72032	D	0.01	-2.1459	5.1919	0.15214	0.1455:0.6256:0.0:0.2288	.	480;573;573	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Y	573;480;573;573	ENSP00000370337:D573Y;ENSP00000321000:D480Y;ENSP00000382271:D573Y	ENSP00000321000:D480Y	D	-	1	0	CEP152	46852041	0.996000	0.38824	0.389000	0.26208	0.996000	0.88848	0.620000	0.24403	0.919000	0.36945	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1	80	420	0	102	1	3.782642e-01	4	4	0	102	2		0	0	0	0	0	2	1	1	77	413	0	101	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49064762	49064762	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064762T>C	ENST00000380950.2	-	13	1891	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	CEP152_ENST00000325747.5_Silent_p.Q475Q|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Silent_p.Q568Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa			63		all_lung(180;0.0428)			TGAGGTCATTTTGTAACTGAG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000380950.2	1	1	hg19	CCDS58361.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1	82	437	0	105	1	3.096284e-01	2	5	0	105	2		0	0	0	0	0	2	1	1	81	431	0	104	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49064784	49064784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064784C>T	ENST00000380950.2	-	13	1869	c.1682G>A	c.(1681-1683)cGt>cAt	p.R561H	CEP152_ENST00000325747.5_Missense_Mutation_p.R468H|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.R561H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa			63		all_lung(180;0.0428)			CACCAGATGACGCTTCATTGA	0.398000																								0							SO:0001583	missense			ENST00000380950.2	1	1	hg19	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052836	0.93793	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.84070	-1.8;-1.8;-1.8	5.78	5.78	0.91487	.	0.054450	0.64402	D	0.000001	D	0.90950	0.7155	M	0.76002	2.32	0.45515	D	0.998477	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.988;0.999	D	0.90165	0.4231	10	0.49607	T	0.09	-7.1829	18.1631	0.89716	0.0:1.0:0.0:0.0	.	468;561;561	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	561;468;561;561	ENSP00000370337:R561H;ENSP00000321000:R468H;ENSP00000382271:R561H	ENSP00000321000:R468H	R	-	2	0	CEP152	46852076	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	5.202000	0.65169	2.894000	0.99253	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1	78	452	0	109	1	3.946977e-01	2	7	0	109	2		0	0	0	0	0	2	1	1	77	446	0	108	2								-20.000000	1	0	120846	1	31	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49076311	49076311	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49076311T>C	ENST00000380950.2	-	10	1367	c.1180A>G	c.(1180-1182)Att>Gtt	p.I394V	CEP152_ENST00000325747.5_Missense_Mutation_p.I301V|CEP152_ENST00000399334.3_Missense_Mutation_p.I394V|RP11-485O10.2_ENST00000558304.1_RNA	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa			63		all_lung(180;0.0428)			CGAGAGCAAATGTCTTCCTAA	0.294000																								0							SO:0001583	missense			ENST00000380950.2	1	0	hg19	CCDS58361.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	T	1.159	-0.644461	0.03531	0.001368	0.003193	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.77877	-1.13;-1.13;-1.13	5.35	-1.79	0.07932	.	0.475067	0.22648	N	0.057372	T	0.51584	0.1683	L	0.35288	1.05	0.19945	N	0.999949	B;B;B	0.16603	0.001;0.007;0.018	B;B;B	0.12156	0.001;0.007;0.005	T	0.38436	-0.9661	10	0.02654	T	1	-3.6909	0.3026	0.00275	0.2147:0.2372:0.202:0.346	.	301;394;394	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	394;301;394;394	ENSP00000370337:I394V;ENSP00000321000:I301V;ENSP00000382271:I394V	ENSP00000321000:I301V	I	-	1	0	CEP152	46863603	0.004000	0.15560	0.083000	0.20561	0.157000	0.22087	-0.235000	0.09016	-0.233000	0.09797	-1.216000	0.01612	ATT		TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	0	0	1	34	117	0	27	1	6.387044e-01	2	7	0	27	2		0	0	0	0	0	2	1	1	33	114	0	26	2								-2.365132	0	1	120764	267	54	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49081138	49081138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49081138C>T	ENST00000380950.2	-	9	1220	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CEP152_ENST00000325747.5_Missense_Mutation_p.D252N|CEP152_ENST00000399334.3_Missense_Mutation_p.D345N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa			63		all_lung(180;0.0428)			TGATGAAGGTCCACCAGCTGC	0.408000																								0							SO:0001583	missense			ENST00000380950.2	1	1	hg19	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226869	0.79576	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.80304	-1.36;-1.36;-1.36	6.03	6.03	0.97812	.	0.240671	0.48286	D	0.000186	D	0.86176	0.5870	L	0.45581	1.43	0.43782	D	0.99631	D;D;D	0.69078	0.977;0.997;0.976	P;P;P	0.59357	0.787;0.856;0.724	D	0.86157	0.1591	10	0.72032	D	0.01	-14.6367	20.5568	0.99304	0.0:1.0:0.0:0.0	.	252;345;345	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	345;252;345;345	ENSP00000370337:D345N;ENSP00000321000:D252N;ENSP00000382271:D345N	ENSP00000321000:D252N	D	-	1	0	CEP152	46868430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.306000	0.72810	2.861000	0.98227	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1	112	574	0	126	0	2.717538e-02	1	1	0	126	2		0	0	0	0	0	2	1	1	110	562	0	125	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP152	22995	broad.mit.edu	37	15	49089912	49089912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49089912C>T	ENST00000380950.2	-	4	394	c.207G>A	c.(205-207)gaG>gaA	p.E69E	CEP152_ENST00000325747.5_Silent_p.E69E|CEP152_ENST00000399334.3_Silent_p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	p.E69E(1)		63		all_lung(180;0.0428)			TCTCCAATTGCTCAGGATGAT	0.388000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000380950.2	1	1	hg19	CCDS58361.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	1	0	1	96	413	0	90	0	3.633348e-02	1	1	0	90	2		0	0	0	0	0	2	1	1	95	401	0	90	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHC4	399694	broad.mit.edu	37	15	49135605	49135605	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49135605C>T	ENST00000332408.4	-	10	1912		c.e10+1		SHC4_ENST00000396535.3_Splice_Site|SHC4_ENST00000537958.1_Splice_Site	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4			29		all_lung(180;0.00466)			TAGCTACTTACTTCCGCAGTG	0.458000																								0							SO:0001630	splice_region_variant			ENST00000332408.4	1	1	hg19	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712436	0.68730	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6164	0.76769	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHC4	46922897	1.000000	0.71417	0.990000	0.47175	0.817000	0.46193	4.674000	0.61612	2.591000	0.87537	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	1	0	1	143	727	0	172		0	0	0	0	172	2		0	0	0	0	0	2	1	1	142	717	0	172	2								-20.000000	1	1	121412	1	32	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SECISBP2L	9728	broad.mit.edu	37	15	49288703	49288703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49288703C>A	ENST00000559471.1	-	17	2747	c.2484G>T	c.(2482-2484)gaG>gaT	p.E828D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D|Y_RNA_ENST00000384377.1_RNA	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like			46					CCTCAGCCTGCTCCTGTTCCA	0.428000																								0							SO:0001583	missense			ENST00000559471.1	1	1	hg19	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820874	0.71028	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.92545	-3.06	4.94	0.893	0.19236	.	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	L	0.29908	0.895	0.39808	D	0.972668	D;D	0.71674	0.996;0.998	P;D	0.63488	0.824;0.915	D	0.89300	0.3625	10	0.72032	D	0.01	.	9.1906	0.37197	0.0:0.5318:0.0:0.4682	.	828;783	Q93073;Q93073-2	SBP2L_HUMAN;.	D	783;828	ENSP00000261847:E783D	ENSP00000261847:E783D	E	-	3	2	SECISBP2L	47075995	0.989000	0.36119	0.999000	0.59377	0.992000	0.81027	0.302000	0.19192	0.288000	0.22398	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	0	0	0	29	1172	0	245	0	7.080109e-01	1	99	0	245	2		0	0	0	0	0	2	1	1	29	1152	0	244	2								-3.028088	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.280000	0.190000	0.390000	0.280000	0.290918	0.280000	0	2.300000e-01	3.400000e-01
SECISBP2L	9728	broad.mit.edu	37	15	49308835	49308835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49308835T>C	ENST00000559471.1	-	11	1746	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like			46					GCAGCTAACATGTCCCCTAAA	0.343000																								0							SO:0001583	missense			ENST00000559471.1	1	1	hg19	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386745	0.82902	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.76186	-1.0	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.72118	2.19	0.54753	D	0.999981	D;D	0.61697	0.983;0.99	P;D	0.72982	0.708;0.979	D	0.84915	0.0850	10	0.44086	T	0.13	.	15.8819	0.79211	0.0:0.0:0.0:1.0	.	495;450	Q93073;Q93073-2	SBP2L_HUMAN;.	V	450;495	ENSP00000261847:M450V	ENSP00000261847:M450V	M	-	1	0	SECISBP2L	47096127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	2.222000	0.72286	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	1	0	1	59	272	0	61	1	9.999919e-01	12	70	0	61	2		0	0	0	0	0	2	1	1	59	267	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SECISBP2L	9728	broad.mit.edu	37	15	49320695	49320695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49320695C>T	ENST00000559471.1	-	5	1112	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like			46					CTGCTGCAGGCTGGTTGTTGC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000559471.1	1	1	hg19	CCDS53942.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	1	0	1	95	402	0	93	1	9.999942e-01	21	54	0	93	2		0	0	0	0	0	2	1	1	93	398	0	92	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COPS2	9318	broad.mit.edu	37	15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49431799G>A	ENST00000388901.5	-	4	371	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	COPS2_ENST00000542928.1_Missense_Mutation_p.R36W|Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Missense_Mutation_p.R100W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2			18		all_lung(180;0.0428)			ACTGCACTCCGAATATAGGTC	0.313000													NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)											0							SO:0001583	missense			ENST00000388901.5	1	1	hg19	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372939	0.82573	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.48	3.59	0.41128	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.54629	0.757;0.757;0.757	T	0.66995	-0.5782	9	0.87932	D	0	-25.2134	12.3137	0.54944	0.139:0.0:0.861:0.0	.	36;101;100	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	W	100;100;36	.	ENSP00000299259:R100W	R	-	1	2	COPS2	47219091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.230000	0.58632	1.317000	0.45149	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	1	0	1	29	383	0	124	1	9.999877e-01	24	209	0	124	2		0	0	0	0	0	2	1	1	29	377	0	123	2								-3.318775	1	1	121394	1	30	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.820000	0.560000	1.000000	1.000000	0.826663	0.820000	0	6.800000e-01	9.800000e-01
ATP8B4	79895	broad.mit.edu	37	15	50209130	50209130	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50209130C>A	ENST00000284509.6	-	20	2283		c.e20+1		ATP8B4_ENST00000559829.1_Splice_Site	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4			73		all_lung(180;0.00183)			tcAACACCTACCTGAGTTCTT	0.453000																								0							SO:0001630	splice_region_variant			ENST00000284509.6	1	1	hg19	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077341	0.76415	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6736	0.85273	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8B4	47996422	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	7.137000	0.77295	2.600000	0.87896	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	1	0	0	62	248	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	60	238	0	71	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP8B4	79895	broad.mit.edu	37	15	50339654	50339654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50339654C>T	ENST00000284509.6	-	4	236	c.95G>A	c.(94-96)cGt>cAt	p.R32H	ATP8B4_ENST00000558959.1_5'Flank|ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4			73		all_lung(180;0.00183)			TGTGTGGATACGATTATCCTG	0.373000																								0							SO:0001583	missense			ENST00000284509.6	1	1	hg19	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056893	0.36277	.	.	ENSG00000104043	ENST00000284509	T	0.79454	-1.27	5.47	5.47	0.80525	.	0.233701	0.36519	N	0.002553	T	0.66046	0.2750	N	0.26042	0.785	0.39911	D	0.97403	B	0.15719	0.014	B	0.11329	0.006	T	0.61806	-0.6987	10	0.11485	T	0.65	.	16.8191	0.85741	0.0:1.0:0.0:0.0	.	32	Q8TF62	AT8B4_HUMAN	H	32	ENSP00000284509:R32H	ENSP00000284509:R32H	R	-	2	0	ATP8B4	48126946	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.874000	0.48483	2.569000	0.86673	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	1	0	1	98	145	0	44	0	7.698683e-01	0	6	0	44	2		0	0	0	0	0	2	1	1	96	141	0	44	2								-16.102950	1	1	121410	6	37	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDC	3067	broad.mit.edu	37	15	50534865	50534865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50534865C>T	ENST00000267845.3	-	12	1983	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	HDC_ENST00000543581.1_Silent_p.Q494Q|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase			50		all_lung(180;0.0138)			CTCCCACACGCTGAGGCTGCT	0.577000													GBM(95;1627 1936 6910 9570)											0							SO:0001819	synonymous_variant			ENST00000267845.3	1	1	hg19	CCDS10134.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1	1	0	1	64	241	0	62	0	2.874030e-01	0	5	0	62	2		0	0	0	0	0	2	1	1	64	239	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDC	3067	broad.mit.edu	37	15	50546817	50546817	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50546817C>T	ENST00000267845.3	-	5	888	c.486G>A	c.(484-486)agG>agA	p.R162R	HDC_ENST00000543581.1_Silent_p.R162R	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase			50		all_lung(180;0.0138)			TTTTGTTCTTCCTTGCTGCCA	0.507000													GBM(95;1627 1936 6910 9570)											0							SO:0001819	synonymous_variant			ENST00000267845.3	1	1	hg19	CCDS10134.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1	0	0	0	9	274	0	62	0	1.340123e-03	0	2	0	62	2		0	0	0	0	0	2	1	9.935365e-01	8	266	0	62	2								-3.165183	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.380000	0.180000	0.660000	0.360000	0.403786	0.380000	0	2.700000e-01	5.200000e-01
GABPB1	2553	broad.mit.edu	37	15	50592987	50592987	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50592987T>C	ENST00000220429.8	-	6	900	c.732A>G	c.(730-732)ccA>ccG	p.P244P	GABPB1_ENST00000560825.1_Splice_Site_p.P232P|GABPB1_ENST00000429662.2_Splice_Site_p.P244P|GABPB1_ENST00000543881.1_Splice_Site_p.P168P|GABPB1_ENST00000380877.3_Splice_Site_p.P232P|GABPB1_ENST00000359031.4_Splice_Site_p.P232P|GABPB1_ENST00000396464.3_Splice_Site_p.P232P			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1			14					TTTTCTAACCTGGAGTTTCTG	0.453000																								0							SO:0001630	splice_region_variant			ENST00000220429.8	0	1	hg19	CCDS32239.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1	0	0	0	10	297	0	37	1	8.711735e-01	8	103	0	37	2		0	0	0	0	0	2	1	9.965782e-01	9	290	0	37	2								-10.951970	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.390000	0.200000	0.650000	0.370000	0.410243	0.390000	0	2.800000e-01	5.200000e-01
USP8	9101	broad.mit.edu	37	15	50782713	50782713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50782713G>A	ENST00000396444.3	+	14	2563	c.2225G>A	c.(2224-2226)cGg>cAg	p.R742Q	USP8_ENST00000307179.4_Missense_Mutation_p.R742Q|USP8_ENST00000433963.1_Missense_Mutation_p.R742Q|USP8_ENST00000425032.3_Missense_Mutation_p.R636Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8			35					ACAGTTAATCGGGAAAACAAG	0.403000																								0							SO:0001583	missense			ENST00000396444.3	1	1	hg19	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236592	0.79800	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19669	2.13;2.13;2.13;2.15	5.6	5.6	0.85130	.	0.650366	0.16020	N	0.233361	T	0.33177	0.0854	L	0.32530	0.975	0.80722	D	1	D;P	0.60575	0.988;0.947	P;P	0.55260	0.752;0.772	T	0.02751	-1.1115	10	0.59425	D	0.04	-14.7141	19.9733	0.97292	0.0:0.0:1.0:0.0	.	636;742	B4DKA8;P40818	.;UBP8_HUMAN	Q	742;742;742;636	ENSP00000379721:R742Q;ENSP00000405537:R742Q;ENSP00000302239:R742Q;ENSP00000412682:R636Q	ENSP00000302239:R742Q	R	+	2	0	USP8	48570005	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	9.169000	0.94788	2.790000	0.95986	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	0	0	0	40	392	1	123	1	9.901882e-01	19	147	1	123	7		0	0	0	0	0	2	1	9.999649e-01	39	384	1	121	13								-2.376785	0	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.790000	1.000000	1.000000	0.973200	0.990000	1	9.200000e-01	1
USP8	9101	broad.mit.edu	37	15	50786282	50786282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50786282G>A	ENST00000396444.3	+	16	2801	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	USP8_ENST00000307179.4_Silent_p.G821G|USP8_ENST00000433963.1_Silent_p.G821G|USP8_ENST00000425032.3_Silent_p.G715G|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8			35					ATTTGTTGGGGCATAAAGGTG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000396444.3	1	1	hg19	CCDS10137.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	1	0	1	40	317	0	74	1	9.996903e-01	12	86	0	74	2		0	0	0	0	0	2	1	1	40	307	0	73	2								-3.142705	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.950000	1.000000	1.000000	0.997392	0.990000	1	9.900000e-01	1
USP8	9101	broad.mit.edu	37	15	50788095	50788095	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50788095C>T	ENST00000396444.3	+	17	3047	c.2709C>T	c.(2707-2709)gaC>gaT	p.D903D	USP8_ENST00000307179.4_Silent_p.D903D|USP8_ENST00000433963.1_Silent_p.D903D|USP8_ENST00000425032.3_Silent_p.D797D|RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8			35					ATCTCGATGACTTTAAAGCTG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000396444.3	1	1	hg19	CCDS10137.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	1	0	1	45	227	0	47	1	9.999995e-01	34	81	0	47	2		0	0	0	0	0	2	1	1	45	226	0	47	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
USP50	373509	broad.mit.edu	37	15	50822088	50822088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50822088G>A	ENST00000532404.1	-	6	1015	c.842C>T	c.(841-843)aCg>aTg	p.T281M	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50			13					ATGAATATCCGTTCTCAGCTT	0.388000																								0							SO:0001583	missense			ENST00000532404.1	1	1	hg19	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194840	0.58017	.	.	ENSG00000170236	ENST00000532404	T	0.32753	1.44	5.66	4.75	0.60458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.194190	0.43416	D	0.000575	T	0.54515	0.1863	M	0.81497	2.545	0.34114	D	0.663346	D	0.89917	1.0	D	0.69824	0.966	T	0.70676	-0.4806	10	0.72032	D	0.01	-8.1603	10.7927	0.46443	0.0878:0.0:0.9122:0.0	.	286	Q70EL3	UBP50_HUMAN	M	281	ENSP00000434676:T281M	ENSP00000434676:T281M	T	-	2	0	USP50	48609380	0.999000	0.42202	0.872000	0.34217	0.840000	0.47671	4.049000	0.57397	1.406000	0.46857	-0.143000	0.13931	ACG		TCGA-IB-7651-01A-11D-2154-08	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1	1	0	1	70	312	0	97	1	3.439876e-02	2	0	0	97	2		0	0	0	0	0	2	1	1	69	306	0	96	2								-20.000000	1	1	120808	3	40	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM7	54822	broad.mit.edu	37	15	50901842	50901842	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50901842A>C	ENST00000313478.7	-	19	2797	c.2516T>G	c.(2515-2517)cTt>cGt	p.L839R	TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7			52					CGTAATTGGAAGCTTTTTTGA	0.274000																								0							SO:0001583	missense			ENST00000313478.7	1	1	hg19	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366274	0.82463	.	.	ENSG00000092439	ENST00000313478	T	0.81415	-1.49	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.90256	0.4297	10	0.87932	D	0	-19.001	15.7606	0.78076	1.0:0.0:0.0:0.0	.	839	Q96QT4	TRPM7_HUMAN	R	839	ENSP00000320239:L839R	ENSP00000320239:L839R	L	-	2	0	TRPM7	48689134	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.497000	0.81536	2.137000	0.66172	0.383000	0.25322	CTT		TCGA-IB-7651-01A-11D-2154-08	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	1	0	1	42	204	0	55	1	9.999636e-01	23	55	0	55	2		0	0	0	0	0	2	1	1	42	201	0	55	2								-19.999060	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TRPM7	54822	broad.mit.edu	37	15	50911964	50911964	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50911964T>G	ENST00000313478.7	-	13	1753	c.1472A>C	c.(1471-1473)cAt>cCt	p.H491P	TRPM7_ENST00000560955.1_Missense_Mutation_p.H491P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7			52					TCGAACAAGATGAAACAGCAT	0.254000																								0							SO:0001583	missense			ENST00000313478.7	0	1	hg19	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865604	0.71949	.	.	ENSG00000092439	ENST00000313478	T	0.55234	0.53	4.11	4.11	0.48088	.	0.170164	0.52532	D	0.000077	T	0.59797	0.2220	L	0.58583	1.82	0.52099	D	0.999947	D	0.67145	0.996	P	0.53649	0.731	T	0.65627	-0.6122	10	0.87932	D	0	-15.5063	12.7744	0.57439	0.0:0.0:0.0:1.0	.	491	Q96QT4	TRPM7_HUMAN	P	491	ENSP00000320239:H491P	ENSP00000320239:H491P	H	-	2	0	TRPM7	48699256	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.443000	0.80521	1.867000	0.54127	0.456000	0.33151	CAT		TCGA-IB-7651-01A-11D-2154-08	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	0	0	0	6	192	0	32	1	6.549102e-01	3	66	0	32	2		0	0	0	0	0	2	1	9.645715e-01	6	190	0	32	2								-8.340914	1	1	120764	1	26	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.370000	0.150000	0.700000	0.340000	0.399622	0.370000	0	2.400000e-01	5.400000e-01
AP4E1	23431	broad.mit.edu	37	15	51207651	51207651	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51207651A>T	ENST00000261842.5	+	3	335	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit			27					TCAGAAAATGATGAAGGAATG	0.303000																								0							SO:0001583	missense			ENST00000261842.5	1	1	hg19	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885118	0.51908	.	.	ENSG00000081014	ENST00000261842	T	0.24908	1.83	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.042722	0.85682	N	0.000000	T	0.21427	0.0516	L	0.31578	0.945	0.53005	D	0.999962	B;B	0.16603	0.0;0.018	B;B	0.19666	0.001;0.026	T	0.03000	-1.1084	10	0.33940	T	0.23	-11.7069	14.9133	0.70776	1.0:0.0:0.0:0.0	.	77;77	B4DM48;Q9UPM8	.;AP4E1_HUMAN	L	77	ENSP00000261842:M77L	ENSP00000261842:M77L	M	+	1	0	AP4E1	48994943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.727000	0.91480	2.252000	0.74401	0.529000	0.55759	ATG		TCGA-IB-7651-01A-11D-2154-08	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	1	0	1	60	288	0	54	1	4.807873e-01	2	7	0	54	2		0	0	0	0	0	2	1	1	58	286	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP4E1	23431	broad.mit.edu	37	15	51223034	51223034	+	Silent	SNP	G	G	A	rs146147470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51223034G>A	ENST00000261842.5	+	7	841	c.735G>A	c.(733-735)ggG>ggA	p.G245G	AP4E1_ENST00000560508.1_Silent_p.G170G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit			27					ACTTGACTGGGAGTTTTGTAA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000261842.5	1	1	hg19	CCDS32240.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	1	0	1	83	429	0	91	1	6.042578e-01	2	10	0	91	2		0	0	0	0	0	2	1	1	83	412	0	90	2								-3.082654	1	1	121412	13	44	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP4E1	23431	broad.mit.edu	37	15	51289963	51289963	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51289963G>A	ENST00000261842.5	+	18	2893	c.2787G>A	c.(2785-2787)gtG>gtA	p.V929V	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.V854V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit			27					CTATATCAGTGTCTTCTTATA	0.323000																								0							SO:0001819	synonymous_variant			ENST00000261842.5	1	1	hg19	CCDS32240.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	1	0	1	53	258	0	42	1	6.779772e-01	6	7	0	42	2		0	0	0	0	0	2	1	1	52	256	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP4E1	23431	broad.mit.edu	37	15	51293263	51293263	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293263T>C	ENST00000261842.5	+	20	3242	c.3136T>C	c.(3136-3138)Tta>Cta	p.L1046L	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.L971L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit			27					GAAACTCTGGTTATCCTTCGC	0.328000																								0							SO:0001819	synonymous_variant			ENST00000261842.5	1	1	hg19	CCDS32240.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	0	0	0	13	384	0	96	0	1.572260e-01	0	20	0	96	2		0	0	0	0	0	2	1	9.994953e-01	13	377	0	95	2								-3.826830	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.390000	0.210000	0.620000	0.390000	0.405871	0.390000	0	2.900000e-01	5.100000e-01
AP4E1	23431	broad.mit.edu	37	15	51293373	51293373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293373G>T	ENST00000261842.5	+	20	3352	c.3246G>T	c.(3244-3246)gaG>gaT	p.E1082D	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit			27					ATATTATTGAGATTATAGGTT	0.328000																								0							SO:0001583	missense			ENST00000261842.5	1	1	hg19	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541238	0.00934	.	.	ENSG00000081014	ENST00000261842	T	0.18502	2.21	4.93	-3.71	0.04424	Coatomer, beta subunit, C-terminal (1);	0.312135	0.35615	N	0.003083	T	0.03651	0.0104	N	0.04203	-0.255	0.27938	N	0.937604	B	0.02656	0.0	B	0.08055	0.003	T	0.32824	-0.9892	10	0.02654	T	1	-3.3318	1.2787	0.02036	0.47:0.1469:0.1173:0.2658	.	1082	Q9UPM8	AP4E1_HUMAN	D	1082	ENSP00000261842:E1082D	ENSP00000261842:E1082D	E	+	3	2	AP4E1	49080665	0.066000	0.20996	0.442000	0.26870	0.102000	0.19082	-0.350000	0.07721	-0.513000	0.06496	-1.204000	0.01649	GAG		TCGA-IB-7651-01A-11D-2154-08	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1	1	0	1	55	235	0	75	1	8.336198e-01	4	12	0	75	2		0	0	0	0	0	2	1	1	52	230	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFAIP8L3	388121	broad.mit.edu	37	15	51350473	51350473	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51350473C>A	ENST00000327536.5	-	3	583	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3			11					ATCTTGTGGGCTTCCTTCTTG	0.458000																								0							SO:0001583	missense			ENST00000327536.5	1	1	hg19	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813604	0.90790	.	.	ENSG00000183578	ENST00000327536	T	0.38722	1.12	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.58354	1.805	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62618	-0.6816	10	0.54805	T	0.06	-14.7162	18.3372	0.90293	0.0:1.0:0.0:0.0	.	162	Q5GJ75	TP8L3_HUMAN	S	162	ENSP00000328016:A162S	ENSP00000328016:A162S	A	-	1	0	TNFAIP8L3	49137765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.725000	0.61979	2.569000	0.86673	0.508000	0.49915	GCC		TCGA-IB-7651-01A-11D-2154-08	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	1	0	1	94	604	0	157	0	9.660619e-01	0	37	0	157	2		0	0	0	0	0	2	1	1	94	594	0	156	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP19A1	1588	broad.mit.edu	37	15	51529135	51529135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51529135C>T	ENST00000396402.1	-	3	370	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1			33				Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TAGTTGCAGGCACTGCCGATC	0.502000													Melanoma(142;1016 1807 39614 48966 51721)											0							SO:0001583	missense			ENST00000396402.1	1	1	hg19	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441462	0.63067	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.98	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.91196	3.185	0.80722	D	1	B;P	0.37038	0.253;0.579	B;P	0.47162	0.101;0.54	D	0.83742	0.0204	10	0.66056	D	0.02	-15.5037	14.5829	0.68305	0.0:0.9301:0.0:0.0699	.	73;73	Q8IYJ7;P11511	.;CP19A_HUMAN	T	73	ENSP00000379683:A73T;ENSP00000260433:A73T;ENSP00000379685:A73T;ENSP00000390614:A73T;ENSP00000383930:A73T;ENSP00000391139:A73T;ENSP00000384389:A73T	ENSP00000260433:A73T	A	-	1	0	CYP19A1	49316427	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	5.600000	0.67599	1.542000	0.49330	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1	1	0	1	120	462	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	117	458	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLDN	342035	broad.mit.edu	37	15	51693790	51693790	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51693790G>T	ENST00000335449.6	+	9	1084	c.1028G>T	c.(1027-1029)gGc>gTc	p.G343V	GLDN_ENST00000396399.2_Splice_Site_p.G219V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin			19					CCTCCTACAGGCATCATGGTT	0.507000											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000335449.6	1	0	hg19	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803327	0.90623	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.92647	-3.08;-3.08	5.71	5.71	0.89125	Olfactomedin-like (3);	0.000000	0.44285	D	0.000476	D	0.96244	0.8775	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95788	0.8822	9	.	.	.	.	18.8497	0.92222	0.0:0.0:1.0:0.0	.	343	Q6ZMI3	GLDN_HUMAN	V	343;219;219	ENSP00000335196:G343V;ENSP00000379681:G219V	.	G	+	2	0	GLDN	49481082	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.384000	0.90160	2.692000	0.91855	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	1	0	0	42	438	0	128	0	8.126938e-03	0	2	0	128	2		0	0	0	0	0	2	1	1	42	432	0	128	2								-12.154070	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.750000	1.000000	1.000000	0.956284	0.990000	1	8.700000e-01	1
GLDN	342035	broad.mit.edu	37	15	51696637	51696637	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51696637C>A	ENST00000335449.6	+	10	1398	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	GLDN_ENST00000396399.2_Missense_Mutation_p.L324I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin			19					CTCGAGCATTCTTGTAGCACA	0.448000																								0							SO:0001583	missense			ENST00000335449.6	1	1	hg19	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	4.397	0.073370	0.08485	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88975	-2.45;-2.45	5.71	0.907	0.19321	Olfactomedin-like (3);	0.402479	0.18238	N	0.147340	T	0.79240	0.4412	L	0.28115	0.83	0.31440	N	0.672055	B	0.25667	0.131	B	0.30029	0.11	T	0.71334	-0.4624	10	0.36615	T	0.2	.	5.3883	0.16229	0.1935:0.3411:0.3907:0.0747	.	448	Q6ZMI3	GLDN_HUMAN	I	448;324;324	ENSP00000335196:L448I;ENSP00000379681:L324I	ENSP00000335196:L448I	L	+	1	0	GLDN	49483929	1.000000	0.71417	0.011000	0.14972	0.156000	0.22039	1.863000	0.39459	0.296000	0.22592	0.563000	0.77884	CTT		TCGA-IB-7651-01A-11D-2154-08	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	0	0	0	63	619	1	103	0	2.033315e-01	0	9	1	103	2		0	0	0	0	0	2	1	9.999995e-01	63	611	1	102	21								-17.216010	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.840000	1.000000	1.000000	0.981931	0.990000	1	9.500000e-01	1
DMXL2	23312	broad.mit.edu	37	15	51750948	51750948	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51750948G>T	ENST00000251076.5	-	34	8255	c.7968C>A	c.(7966-7968)atC>atA	p.I2656I	DMXL2_ENST00000543779.2_Silent_p.I2657I|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2			101					ATTCCTTATGGATGACTTTCG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000251076.5	1	1	hg19	CCDS10141.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	1	0	1	66	343	0	109	1	9.966028e-01	6	41	0	109	2		0	0	0	0	0	2	1	1	65	338	0	109	2								-3.233130	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMXL2	23312	broad.mit.edu	37	15	51772901	51772901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51772901C>T	ENST00000251076.5	-	24	6689	c.6402G>A	c.(6400-6402)ttG>ttA	p.L2134L	DMXL2_ENST00000543779.2_Silent_p.L2134L|DMXL2_ENST00000449909.3_Silent_p.L1498L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2			101					GTTTGGCCTGCAATCTTCTTC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000251076.5	1	1	hg19	CCDS10141.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	1	0	0	129	578	0	108	1	9.881083e-01	4	29	0	108	2		0	0	0	0	0	2	1	1	126	570	0	108	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51791720C>T	ENST00000251076.5	-	18	3988	c.3701G>A	c.(3700-3702)aGa>aAa	p.R1234K	DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2			101					GTCTATAGATCTAAGAAGAAC	0.428000																								0							SO:0001583	missense			ENST00000251076.5	1	1	hg19	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509808	0.85282	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.30714	1.53;1.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.80764	0.994;0.965	T	0.55685	-0.8102	10	0.56958	D	0.05	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	1234;1234	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1234	ENSP00000251076:R1234K;ENSP00000441858:R1234K	ENSP00000251076:R1234K	R	-	2	0	DMXL2	49579012	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.461000	0.80834	2.645000	0.89757	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	1	0	1	101	502	0	124	0	7.430568e-01	1	14	0	124	2		0	0	0	0	0	2	1	1	100	493	0	123	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMXL2	23312	broad.mit.edu	37	15	51860756	51860756	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51860756C>A	ENST00000251076.5	-	3	501		c.e3-1		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2			101					AAGCTGCAATCTAAAAAAGAA	0.249000																								0							SO:0001630	splice_region_variant			ENST00000251076.5	1	1	hg19	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550711	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7452	0.91789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49648048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.359000	0.79477	2.507000	0.84556	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	1	0	0	22	76	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	9.999994e-01	21	75	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
SCG3	29106	broad.mit.edu	37	15	51975574	51975574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51975574C>T	ENST00000220478.3	+	4	743	c.340C>T	c.(340-342)Cga>Tga	p.R114*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III			21					AACCAAGAATCGAAAACTGAT	0.318000																								0							SO:0001587	stop_gained			ENST00000220478.3	0	1	hg19	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	40	8.080766	0.98643	.	.	ENSG00000104112	ENST00000220478	.	.	.	6.07	4.16	0.48862	.	0.059838	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.973	10.9175	0.47146	0.1314:0.8019:0.0:0.0667	.	.	.	.	X	114	.	ENSP00000220478:R114X	R	+	1	2	SCG3	49762866	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.223000	0.51231	1.534000	0.49203	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	1	0	1	83	481	0	110	0	9.988679e-01	0	60	0	110	2		0	0	0	0	0	2	1	1	83	473	0	109	2								-3.319085	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK6	5597	broad.mit.edu	37	15	52338703	52338703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338703C>T	ENST00000261845.5	+	2	853	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6			20					TGGTTTTGATCTGGGTTCTAG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000261845.5	1	1	hg19	CCDS10147.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	1	0	1	74	719	0	179	1	9.998399e-01	12	110	0	179	2		0	0	0	0	0	2	1	1	73	697	0	178	2								-19.604640	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.860000	1.000000	1.000000	0.986798	0.990000	1	9.700000e-01	1
MAPK6	5597	broad.mit.edu	37	15	52338767	52338767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338767C>T	ENST00000261845.5	+	2	917	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6			20					GTTTTTTCTGCTGTAGACAAT	0.378000																								0							SO:0001583	missense			ENST00000261845.5	1	1	hg19	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588654	0.86851	.	.	ENSG00000069956	ENST00000261845	T	0.55413	0.52	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.66618	-0.5878	10	0.56958	D	0.05	-17.1548	18.7507	0.91814	0.0:1.0:0.0:0.0	.	37	Q16659	MK06_HUMAN	V	37	ENSP00000261845:A37V	ENSP00000261845:A37V	A	+	2	0	MAPK6	50126059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.445000	0.82738	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	0	0	0	27	641	0	148	1	9.733711e-01	11	129	0	148	2		0	0	0	0	0	2	1	9.999999e-01	28	626	0	148	2								-4.208557	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.470000	0.310000	0.660000	0.470000	0.485907	0.470000	0	3.900000e-01	5.700000e-01
GNB5	10681	broad.mit.edu	37	15	52425618	52425618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52425618C>T	ENST00000261837.7	-	9	885	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	GNB5_ENST00000396335.4_Missense_Mutation_p.V162M|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.V232M	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5			2					AAGGCCTGCACGCACTGGCCG	0.493000																								0							SO:0001583	missense			ENST00000261837.7	1	1	hg19	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925855	0.73213	0.0	4.66E-4	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.62105	0.05	5.78	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.126087	0.52532	D	0.000066	T	0.58764	0.2145	L	0.37630	1.12	0.80722	D	1	P;P	0.46621	0.881;0.871	P;P	0.51701	0.574;0.677	T	0.60860	-0.7179	10	0.66056	D	0.02	-18.5063	6.5084	0.22208	0.0:0.7194:0.0:0.2806	.	274;162	O14775;O14775-3	GBB5_HUMAN;.	M	274;232;72;162	ENSP00000261837:V274M	ENSP00000261837:V274M	V	-	1	0	GNB5	50212910	0.997000	0.39634	0.990000	0.47175	0.929000	0.56500	3.033000	0.49743	2.724000	0.93272	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1	1	0	1	63	362	0	94	1	1	45	127	0	94	2		0	0	0	0	0	2	1	1	63	353	0	91	2								-20.000000	1	1	121412	20	46	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO5C	55930	broad.mit.edu	37	15	52513390	52513390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52513390G>A	ENST00000261839.7	-	30	3851	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC			66					CATTCAGGCGGATTTCAAGAT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000261839.7	1	1	hg19	CCDS42036.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	1	0	0	43	276	0	51	1	9.986897e-01	3	64	0	51	2		0	0	0	0	0	2	1	1	40	267	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999920	0.990000	1	9.900000e-01	1
MYO5C	55930	broad.mit.edu	37	15	52539194	52539194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52539194G>T	ENST00000261839.7	-	16	2060	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC			66					CCATGAGCAAGTACAGAGAGC	0.443000																								0							SO:0001587	stop_gained			ENST00000261839.7	0	1	hg19	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983179	0.98594	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.27	4.12	0.48240	.	0.660669	0.15813	N	0.243391	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7352	0.23405	0.2559:0.0:0.7441:0.0	.	.	.	.	X	633	.	ENSP00000261839:Y633X	Y	-	3	2	MYO5C	50326486	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.936000	0.40183	2.628000	0.89032	0.561000	0.74099	TAC		TCGA-IB-7651-01A-11D-2154-08	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	1	0	1	52	288	0	90	0	9.456109e-01	1	28	0	90	2		0	0	0	0	0	2	1	1	52	284	0	90	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MYO5A	4644	broad.mit.edu	37	15	52656853	52656853	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52656853G>A	ENST00000399231.3	-	24	3450	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000553916.1_Silent_p.L1069L|MYO5A_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)			57					CATTAAGGTCGAGTTCCAGTT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000399231.3	1	1	hg19	CCDS42037.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	1	0	0	47	465	0	74	1	7.051852e-01	4	22	0	74	2		0	0	0	0	0	2	1	1	46	455	0	74	2								-3.017764	1	1	120816	88	52	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.800000	1.000000	1.000000	0.974521	0.990000	1	9.200000e-01	1
WDR72	256764	broad.mit.edu	37	15	53815426	53815426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53815426G>A	ENST00000396328.1	-	19	3481	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F	WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F|WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F|WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72			71					TGGACTCTCAGACTCTTCCAA	0.468000																								0							SO:0001583	missense			ENST00000396328.1	1	1	hg19	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616979	0.66672	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.53640	0.61;0.61	6.17	6.17	0.99709	.	0.235283	0.30649	N	0.009171	T	0.63129	0.2485	L	0.51422	1.61	0.37861	D	0.929711	D	0.64830	0.994	P	0.60173	0.87	T	0.65076	-0.6256	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1081	Q3MJ13	WDR72_HUMAN	F	1081	ENSP00000379619:S1081F;ENSP00000353699:S1081F	ENSP00000353699:S1081F	S	-	2	0	WDR72	51602718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.918000	0.75788	2.941000	0.99782	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	1	0	1	166	861	0	196	0	2.529266e-01	0	6	0	196	2		0	0	0	0	0	2	1	1	162	828	0	195	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR72	256764	broad.mit.edu	37	15	53889435	53889435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53889435C>T	ENST00000396328.1	-	18	3228	c.2989G>A	c.(2989-2991)Gtt>Att	p.V997I	WDR72_ENST00000557913.1_Missense_Mutation_p.V994I|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I|WDR72_ENST00000360509.5_Missense_Mutation_p.V997I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72			71					TGTTGTTGAACTTCCGCCAAG	0.383000																								0							SO:0001583	missense			ENST00000396328.1	1	1	hg19	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909339	0.72868	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.44881	0.91;0.91	6.04	5.13	0.70059	.	0.000000	0.64402	D	0.000013	T	0.47116	0.1428	M	0.61703	1.905	0.28436	N	0.917058	D	0.53312	0.959	P	0.47744	0.556	T	0.49303	-0.8954	10	0.42905	T	0.14	.	12.571	0.56337	0.0:0.9229:0.0:0.0771	.	997	Q3MJ13	WDR72_HUMAN	I	997	ENSP00000379619:V997I;ENSP00000353699:V997I	ENSP00000353699:V997I	V	-	1	0	WDR72	51676727	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.488000	0.45276	1.568000	0.49683	0.563000	0.77884	GTT		TCGA-IB-7651-01A-11D-2154-08	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	0	0	0	36	923	0	149	0	4.421214e-03	0	3	0	149	2		0	0	0	0	0	2	1	1	36	903	0	148	2								-4.337845	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.430000	0.310000	0.590000	0.430000	0.448683	0.430000	0	3.700000e-01	5.200000e-01
WDR72	256764	broad.mit.edu	37	15	53908400	53908400	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53908400A>G	ENST00000396328.1	-	15	2242	c.2003T>C	c.(2002-2004)tTg>tCg	p.L668S	WDR72_ENST00000557913.1_Missense_Mutation_p.L665S|WDR72_ENST00000559418.1_Missense_Mutation_p.L678S|WDR72_ENST00000360509.5_Missense_Mutation_p.L668S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72			71					CTTCACAGGCAAGACATTAAA	0.343000																								0							SO:0001583	missense			ENST00000396328.1	1	1	hg19	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598868	0.46318	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.39229	1.09;1.09	5.23	5.23	0.72850	.	0.221234	0.31519	N	0.007503	T	0.42314	0.1197	L	0.32530	0.975	0.35638	D	0.810786	P	0.46706	0.883	P	0.49752	0.621	T	0.51379	-0.8713	10	0.33141	T	0.24	.	14.2825	0.66221	1.0:0.0:0.0:0.0	.	668	Q3MJ13	WDR72_HUMAN	S	668	ENSP00000379619:L668S;ENSP00000353699:L668S	ENSP00000353699:L668S	L	-	2	0	WDR72	51695692	0.969000	0.33509	0.979000	0.43373	0.571000	0.35966	2.695000	0.47043	1.972000	0.57404	0.260000	0.18958	TTG		TCGA-IB-7651-01A-11D-2154-08	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	1	0	1	40	207	0	57	0	1.936691e-01	0	5	0	57	2		0	0	0	0	0	2	1	1	40	203	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
UNC13C	440279	broad.mit.edu	37	15	54306705	54306705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54306705G>A	ENST00000260323.11	+	1	1605	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.W535*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)			121					CACCTCTCTGGCACTCACAGA	0.363000																								0							SO:0001587	stop_gained			ENST00000260323.11	0	1	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	39	7.471675	0.98306	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4826	0.87677	0.0:0.0:1.0:0.0	.	.	.	.	X	535	.	ENSP00000260323:W535X	W	+	3	0	UNC13C	52093997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.608000	0.88229	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1	50	189	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	49	184	0	44	2								-3.789354	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC13C	440279	broad.mit.edu	37	15	54307992	54307992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54307992G>T	ENST00000260323.11	+	1	2892	c.2892G>T	c.(2890-2892)aaG>aaT	p.K964N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K964N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)			121					AGATCACAAAGCCAAAGAGAA	0.413000																								0							SO:0001583	missense			ENST00000260323.11	1	1	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311224	0.23821	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79940	-1.32;-1.31;-1.32	5.58	4.47	0.54385	.	.	.	.	.	T	0.79161	0.4399	L	0.29908	0.895	0.31722	N	0.638127	D	0.67145	0.996	P	0.54544	0.755	T	0.76531	-0.2925	9	0.25751	T	0.34	.	14.4467	0.67356	0.0835:0.0:0.9165:0.0	.	964	Q8NB66	UN13C_HUMAN	N	964	ENSP00000260323:K964N;ENSP00000438156:K964N;ENSP00000442569:K964N	ENSP00000260323:K964N	K	+	3	2	UNC13C	52095284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.806000	0.47947	2.635000	0.89317	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1	20	70	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999976e-01	19	69	0	18	2								-15.660190	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
UNC13C	440279	broad.mit.edu	37	15	54527296	54527296	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54527296T>C	ENST00000260323.11	+	4	3140	c.3140T>C	c.(3139-3141)gTc>gCc	p.V1047A	UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000545554.1_Missense_Mutation_p.V1047A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)			121					TTGCCTATTGTCCGAGATGTG	0.378000																								0							SO:0001583	missense			ENST00000260323.11	1	1	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849672	0.71603	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85411	-1.97;-1.98;-1.94	5.67	5.67	0.87782	.	0.131907	0.49916	D	0.000125	D	0.92028	0.7474	M	0.80332	2.49	0.47862	D	0.999538	D	0.63880	0.993	D	0.70016	0.967	D	0.92958	0.6386	10	0.87932	D	0	.	14.1387	0.65306	0.0:0.0:0.0:1.0	.	1047	Q8NB66	UN13C_HUMAN	A	1047	ENSP00000260323:V1047A;ENSP00000438156:V1047A;ENSP00000442569:V1047A	ENSP00000260323:V1047A	V	+	2	0	UNC13C	52314588	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.601000	0.74136	2.287000	0.76781	0.482000	0.46254	GTC		TCGA-IB-7651-01A-11D-2154-08	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1	39	161	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	38	161	0	30	2								-19.999810	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC13C	440279	broad.mit.edu	37	15	54556523	54556523	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54556523G>A	ENST00000260323.11	+	8	3606	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	UNC13C_ENST00000537900.1_Silent_p.Q1200Q|UNC13C_ENST00000545554.1_Silent_p.Q1202Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)			121					ATTTTGTGCAGTTTACAAAGG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000260323.11	0	1	hg19	CCDS45264.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1	10	53	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.976685e-01	10	53	0	11	2								-18.696260	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.900000	1.000000	1.000000	0.994150	0.990000	1	9.900000e-01	1
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54586236G>A	ENST00000260323.11	+	10	3962	c.3962G>A	c.(3961-3963)gGa>gAa	p.G1321E	UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E|UNC13C_ENST00000545554.1_Missense_Mutation_p.G1321E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)			121					ACCTTGAGTGGAGAAATGGAT	0.353000																								0							SO:0001583	missense			ENST00000260323.11	1	1	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915595	0.92178	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.72051	-0.62;-0.62;-0.62	5.91	5.91	0.95273	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87113	0.2186	10	0.87932	D	0	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1321;1321	F5H090;Q8NB66	.;UN13C_HUMAN	E	1321;1321;1319	ENSP00000260323:G1321E;ENSP00000438156:G1321E;ENSP00000442569:G1319E	ENSP00000260323:G1321E	G	+	2	0	UNC13C	52373528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1	132	616	0	174		0	0	0	0	174	2		0	0	0	0	0	2	1	1	127	602	0	173	2								-3.246615	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC13C	440279	broad.mit.edu	37	15	54626001	54626001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54626001G>A	ENST00000260323.11	+	15	4531	c.4531G>A	c.(4531-4533)Gac>Aac	p.D1511N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N|UNC13C_ENST00000545554.1_Missense_Mutation_p.D1511N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)			121					AAGACTGCAAGACCTGAAATC	0.348000																								0							SO:0001583	missense			ENST00000260323.11	1	1	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201310	0.94997	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84370	-1.82;-1.84;-1.83	5.66	5.66	0.87406	.	0.047752	0.85682	D	0.000000	D	0.92685	0.7675	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92876	0.6319	10	0.66056	D	0.02	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	1511;1511	F5H090;Q8NB66	.;UN13C_HUMAN	N	1511;1511;1509	ENSP00000260323:D1511N;ENSP00000438156:D1511N;ENSP00000442569:D1509N	ENSP00000260323:D1511N	D	+	1	0	UNC13C	52413293	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.575000	0.98187	2.826000	0.97356	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1	11	44	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.987915e-01	11	43	0	19	2								-19.970880	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998577	0.990000	1	9.900000e-01	1
UNC13C	440279	broad.mit.edu	37	15	54825191	54825191	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54825191A>C	ENST00000260323.11	+	25	5623	c.5623A>C	c.(5623-5625)Aca>Cca	p.T1875P	UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P|UNC13C_ENST00000545554.1_Missense_Mutation_p.T1875P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)			121					TGGAAACACCACATCTAATAA	0.313000																								0							SO:0001583	missense			ENST00000260323.11	0	1	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	8.458	0.854665	0.17106	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.13901	2.55;2.55;2.55	5.69	-1.44	0.08856	.	0.457329	0.24452	N	0.038410	T	0.04815	0.0130	N	0.03608	-0.345	0.09310	N	1	B	0.18166	0.026	B	0.24974	0.057	T	0.36529	-0.9744	10	0.30078	T	0.28	.	6.431	0.21796	0.4589:0.0:0.4189:0.1221	.	1875	Q8NB66	UN13C_HUMAN	P	1875;1875;1873	ENSP00000260323:T1875P;ENSP00000438156:T1875P;ENSP00000442569:T1873P	ENSP00000260323:T1875P	T	+	1	0	UNC13C	52612483	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.379000	0.07437	-0.249000	0.09569	0.459000	0.35465	ACA		TCGA-IB-7651-01A-11D-2154-08	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	1	0	1	9	52	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.950406e-01	9	51	0	9	2								-7.784347	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.820000	1.000000	1.000000	0.989348	0.990000	1	9.900000e-01	1
RSL24D1	51187	broad.mit.edu	37	15	55483181	55483181	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55483181T>A	ENST00000260443.4	-	3	436	c.260A>T	c.(259-261)aAt>aTt	p.N87I	RSL24D1_ENST00000565854.1_5'Flank	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1			7					ACTAGTTTTATTCCATAGCTC	0.313000																								0							SO:0001583	missense			ENST00000260443.4	1	1	hg19	CCDS10152.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083419	0.36758	.	.	ENSG00000137876	ENST00000260443	.	.	.	4.99	2.61	0.31194	.	0.365309	0.34067	N	0.004288	T	0.37348	0.1000	L	0.38175	1.15	0.39358	D	0.965879	P	0.40398	0.716	B	0.37833	0.259	T	0.11203	-1.0597	9	0.35671	T	0.21	-35.9334	7.1273	0.25479	0.0:0.1844:0.0:0.8156	.	87	Q9UHA3	RLP24_HUMAN	I	87	.	ENSP00000260443:N87I	N	-	2	0	RSL24D1	53270473	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.726000	0.25984	0.316000	0.23135	-0.290000	0.09829	AAT		TCGA-IB-7651-01A-11D-2154-08	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254916.1	1	0	1	28	131	0	42	1	1	120	405	0	42	2		0	0	0	0	0	2	1	1	28	127	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
RAB27A	5873	broad.mit.edu	37	15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	rs104894499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55516100C>T	ENST00000396307.2	-	5	705	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family			9					TATTTCTCTGCGAGTGCTATG	0.393000																								0		GRCh37	CM001324	RAB27A	M	rs104894499	SO:0001583	missense			ENST00000396307.2	1	1	hg19	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000069974	ENST00000396307;ENST00000336787	D;D	0.82167	-1.58;-1.58	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	D	0.91633	0.5320	10	0.87932	D	0	-12.6781	18.6655	0.91488	0.0:1.0:0.0:0.0	.	152	P51159	RB27A_HUMAN	T	152	ENSP00000379601:A152T;ENSP00000337761:A152T	ENSP00000337761:A152T	A	-	1	0	RAB27A	53303392	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.532000	0.81985	2.746000	0.94184	0.555000	0.69702	GCA		TCGA-IB-7651-01A-11D-2154-08	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	1	0	1	213	1040	0	229	1	1	35	145	0	229	2		0	0	0	0	0	2	1	1	209	1031	0	229	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIGB	9488	broad.mit.edu	37	15	55613553	55613553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55613553C>A	ENST00000164305.5	+	3	673	c.382C>A	c.(382-384)Ctt>Att	p.L128I	RP11-139H15.1_ENST00000436697.2_RNA|RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000567948.1_RNA|RP11-139H15.1_ENST00000565225.1_RNA|PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B			11					TTACAAGATTCTTCATCTTTT	0.338000																								0							SO:0001583	missense			ENST00000164305.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.14	3.314419	0.60524	.	.	ENSG00000069943	ENST00000164305	T	0.66638	-0.22	4.77	3.85	0.44370	.	0.000000	0.64402	D	0.000003	T	0.78984	0.4370	M	0.80183	2.485	0.80722	D	1	D	0.65815	0.995	D	0.68943	0.961	T	0.78981	-0.1989	10	0.49607	T	0.09	-8.4769	9.1361	0.36875	0.0:0.9004:0.0:0.0996	.	128	Q92521	PIGB_HUMAN	I	128	ENSP00000164305:L128I	ENSP00000164305:L128I	L	+	1	0	PIGB	53400845	0.924000	0.31332	0.999000	0.59377	0.980000	0.70556	0.935000	0.28924	1.223000	0.43536	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	1	0	1	13	60	0	18	1	9.862475e-01	5	32	0	18	2		0	0	0	0	0	2	1	9.996733e-01	12	60	0	18	2								-19.999850	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998705	0.990000	1	9.900000e-01	1
PRTG	283659	broad.mit.edu	37	15	55912364	55912364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55912364C>T	ENST00000389286.4	-	20	3346	c.3299G>A	c.(3298-3300)aGc>aAc	p.S1100N		NM_173814.4	NP_776175.2			protogenin			41					TCTTGAGAAGCTGGTTGTCTG	0.498000																								0							SO:0001583	missense			ENST00000389286.4	1	1	hg19	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	8.289	0.817317	0.16607	.	.	ENSG00000166450	ENST00000389286	T	0.53640	0.61	5.84	-0.687	0.11320	.	0.386496	0.30501	N	0.009484	T	0.28167	0.0695	L	0.31294	0.92	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02950	-1.1090	10	0.36615	T	0.2	-6.4774	5.4248	0.16419	0.0:0.3966:0.2439:0.3595	.	1100	Q2VWP7	PRTG_HUMAN	N	1100	ENSP00000373937:S1100N	ENSP00000373937:S1100N	S	-	2	0	PRTG	53699656	0.001000	0.12720	0.912000	0.35992	0.489000	0.33432	-0.035000	0.12205	-0.109000	0.12044	-0.808000	0.03180	AGC		TCGA-IB-7651-01A-11D-2154-08	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	1	0	1	71	388	0	116	0	2.467814e-02	0	2	0	116	2		0	0	0	0	0	2	1	1	71	382	0	112	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRTG	283659	broad.mit.edu	37	15	55964735	55964735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964735C>T	ENST00000389286.4	-	11	1996	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_173814.4	NP_776175.2			protogenin			41					CAGCTTGTAGCCCTGAATAGC	0.498000																								0							SO:0001583	missense			ENST00000389286.4	1	1	hg19	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004642	0.93287	.	.	ENSG00000166450	ENST00000389286	T	0.37235	1.21	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.267337	0.42964	D	0.000640	T	0.68787	0.3039	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75439	-0.3317	10	0.72032	D	0.01	-15.1368	18.4581	0.90728	0.0:1.0:0.0:0.0	.	650	Q2VWP7	PRTG_HUMAN	D	650	ENSP00000373937:G650D	ENSP00000373937:G650D	G	-	2	0	PRTG	53752027	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.537000	0.82033	2.591000	0.87537	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	1	0	1	72	284	0	82	0	1.876679e-01	0	4	0	82	2		0	0	0	0	0	2	1	1	70	281	0	80	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRTG	283659	broad.mit.edu	37	15	55965763	55965763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55965763C>T	ENST00000389286.4	-	10	1705	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_173814.4	NP_776175.2			protogenin			41					GAAAGACAAGCGATACAGCAC	0.512000																								0							SO:0001583	missense			ENST00000389286.4	1	1	hg19	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872775	0.72180	.	.	ENSG00000166450	ENST00000389286	T	0.58940	0.3	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058015	0.64402	D	0.000001	T	0.57961	0.2089	M	0.67625	2.065	0.80722	D	1	P	0.35328	0.495	B	0.33254	0.16	T	0.64309	-0.6438	10	0.59425	D	0.04	-12.1641	17.4907	0.87702	0.0:1.0:0.0:0.0	.	553	Q2VWP7	PRTG_HUMAN	H	553	ENSP00000373937:R553H	ENSP00000373937:R553H	R	-	2	0	PRTG	53753055	1.000000	0.71417	0.654000	0.29608	0.810000	0.45777	5.601000	0.67606	2.428000	0.82296	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	1	0	1	98	522	0	136	0	1.215417e-01	1	3	0	136	2		0	0	0	0	0	2	1	1	98	509	0	134	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRTG	283659	broad.mit.edu	37	15	55972411	55972411	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55972411C>A	ENST00000389286.4	-	6	862		c.e6-1		RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin			41					GATTTGTGATCTATTTCAAAG	0.323000																								0							SO:0001630	splice_region_variant			ENST00000389286.4	1	1	hg19	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134080	0.77662	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0063	0.92852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRTG	53759703	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.583000	0.82559	2.809000	0.96659	0.467000	0.42956	.		TCGA-IB-7651-01A-11D-2154-08	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	1	0	1	32	131	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	32	130	0	24	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NEDD4	4734	broad.mit.edu	37	15	56132913	56132913	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56132913G>A	ENST00000508342.1	-	16	3407	c.3108C>T	c.(3106-3108)acC>acT	p.T1036T	NEDD4_ENST00000435532.3_Silent_p.T617T|NEDD4_ENST00000506154.1_Silent_p.T1020T|NEDD4_ENST00000338963.2_Silent_p.T964T	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase			43					TTATCTGTAGGGTATAATTGT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000508342.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.466	0.856497	0.17106	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.96	3.05	0.35203	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	4.4455	0.11595	0.2991:0.0:0.5536:0.1473	.	.	.	.	L	627	.	.	P	-	2	0	NEDD4	53920205	0.658000	0.27402	0.998000	0.56505	0.998000	0.95712	-0.196000	0.09532	0.398000	0.25338	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	1	0	0	57	594	0	115	1	6.367933e-01	4	20	0	115	2		0	0	0	0	0	2	1	1	56	589	0	115	2								-2.598634	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.780000	1.000000	1.000000	0.963565	0.990000	1	8.900000e-01	1
NEDD4	4734	broad.mit.edu	37	15	56139215	56139215	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56139215C>A	ENST00000508342.1	-	14	3116	c.2817G>T	c.(2815-2817)agG>agT	p.R939S	NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S|NEDD4_ENST00000506154.1_Missense_Mutation_p.R923S|NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase			43					TTTTGTAATCCCTGGAGTAGG	0.299000																								0							SO:0001583	missense			ENST00000508342.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807542|3.807542	0.70797|0.70797	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.24538	.|1.85;1.95;1.89;1.87	5.95|5.95	3.29|3.29	0.37713|0.37713	.|HECT (1);	.|0.122035	.|0.85682	.|D	.|0.000000	T|T	0.52757|0.52757	0.1754|0.1754	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.993;0.999;0.999	.|D;D;D;D	.|0.81914	.|0.995;0.912;0.933;0.952	T|T	0.58741|0.58741	-0.7583|-0.7583	5|10	.|0.87932	.|D	.|0	.|.	9.2975|9.2975	0.37824|0.37824	0.0:0.6987:0.0:0.3013|0.0:0.6987:0.0:0.3013	.|.	.|923;520;939;867	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	V|S	530|939;520;867;923	.|ENSP00000424827:R939S;ENSP00000410613:R520S;ENSP00000345530:R867S;ENSP00000422705:R923S	.|ENSP00000345530:R867S	G|R	-|-	2|3	0|2	NEDD4|NEDD4	53926507|53926507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.470000|1.470000	0.35354|0.35354	1.167000|1.167000	0.42706|0.42706	0.650000|0.650000	0.86243|0.86243	GGG|AGG		TCGA-IB-7651-01A-11D-2154-08	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	1	0	1	37	179	0	41	1	9.465383e-01	5	21	0	41	2		0	0	0	0	0	2	1	1	35	177	0	40	2								-2.849532	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
RFX7	64864	broad.mit.edu	37	15	56385880	56385880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56385880G>A	ENST00000559447.2	-	9	4026	c.3755C>T	c.(3754-3756)aCt>aTt	p.T1252I	RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I|RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000423270.1_Missense_Mutation_p.T1349I			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7			19					GTCTTTAACAGTGCTATTGAA	0.423000																								0							SO:0001583	missense			ENST00000559447.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.12	3.307294	0.60305	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.63255	0.06;0.05;-0.03	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.74386	-0.3682	10	0.87932	D	0	-18.6485	19.1131	0.93326	0.0:0.0:1.0:0.0	.	1252;1252	Q2KHR2;C9JU50	RFX7_HUMAN;.	I	1252;1349;1349	ENSP00000387504:T1252I;ENSP00000313299:T1349I;ENSP00000397644:T1349I	ENSP00000313299:T1349I	T	-	2	0	RFX7	54173172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.832000	0.97577	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	1	0	1	29	167	0	54	1	9.597444e-01	5	28	0	54	2		0	0	0	0	0	2	1	1	27	164	0	54	2								-3.237523	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999849	0.990000	1	9.900000e-01	1
RFX7	64864	broad.mit.edu	37	15	56388340	56388340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56388340G>A	ENST00000559447.2	-	9	1566	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	RFX7_ENST00000422057.1_Missense_Mutation_p.A432V|RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000423270.1_Missense_Mutation_p.A529V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7			19					TGTTCCCCCCGCACTGCTGCT	0.512000																								0							SO:0001583	missense			ENST00000559447.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	0.165	-1.077149	0.01903	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.52526	0.66;0.66;0.66	5.23	4.31	0.51392	.	0.777644	0.11207	N	0.588138	T	0.31040	0.0784	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.25187	-1.0139	10	0.52906	T	0.07	0.0044	13.119	0.59314	0.0782:0.0:0.9218:0.0	.	432;432	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	432;529;529	ENSP00000387504:A432V;ENSP00000313299:A529V;ENSP00000397644:A529V	ENSP00000313299:A529V	A	-	2	0	RFX7	54175632	0.000000	0.05858	0.338000	0.25549	0.666000	0.39218	0.620000	0.24403	1.181000	0.42912	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	1	0	1	32	106	0	29	1	9.800703e-01	7	17	0	29	2		0	0	0	0	0	2	1	1	31	103	0	28	2								-3.764455	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF280D	54816	broad.mit.edu	37	15	56923986	56923986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56923986A>G	ENST00000267807.7	-	22	2866	c.2650T>C	c.(2650-2652)Ttg>Ctg	p.L884L	ZNF280D_ENST00000559237.1_Silent_p.L871L|RP11-1129I3.1_ENST00000562300.1_RNA	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D			30					GCTAATCGCAAATCCTTAATA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000267807.7	1	1	hg19	CCDS32245.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	1	0	1	67	322	0	65	1	9.904657e-01	2	35	0	65	2		0	0	0	0	0	2	1	1	65	316	0	64	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF280D	54816	broad.mit.edu	37	15	56958693	56958693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56958693C>T	ENST00000267807.7	-	16	2110	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ZNF280D_ENST00000559237.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K|ZNF280D_ENST00000559000.1_Missense_Mutation_p.E619K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D			30					TCTTTTATTTCGGAACAACAC	0.333000																								0							SO:0001583	missense			ENST00000267807.7	1	1	hg19	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325527	0.24080	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03242	4.0;4.48	4.96	4.03	0.46877	.	0.898672	0.09068	U	0.853314	T	0.04952	0.0133	L	0.39085	1.19	0.32489	N	0.540437	B;B	0.28880	0.115;0.226	B;B	0.27380	0.025;0.079	T	0.24905	-1.0147	10	0.27785	T	0.31	-22.9372	14.0291	0.64604	0.1524:0.8476:0.0:0.0	.	695;632	B4DHL1;Q6N043	.;Z280D_HUMAN	K	632;619;336	ENSP00000267807:E632K;ENSP00000379545:E336K	ENSP00000267807:E632K	E	-	1	0	ZNF280D	54745985	0.999000	0.42202	0.962000	0.40283	0.991000	0.79684	4.260000	0.58835	1.193000	0.43086	0.467000	0.42956	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	1	0	1	86	361	0	81	1	9.874175e-01	2	29	0	81	2		0	0	0	0	0	2	1	1	84	357	0	80	2								-3.161104	1	1	121406	1	30	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF280D	54816	broad.mit.edu	37	15	56985325	56985325	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56985325T>C	ENST00000267807.7	-	7	686	c.470A>G	c.(469-471)tAc>tGc	p.Y157C	ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y144C	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D			30					TCCCCCTTGGTAATGTGATAA	0.343000																								0							SO:0001583	missense			ENST00000267807.7	1	1	hg19	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938903	0.52972	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.25414	1.8	5.73	3.35	0.38373	.	.	.	.	.	T	0.33904	0.0879	L	0.34521	1.04	0.80722	D	1	D;D	0.56035	0.974;0.971	P;P	0.62813	0.907;0.855	T	0.01739	-1.1284	9	0.45353	T	0.12	-5.1008	10.3731	0.44066	0.262:0.0:0.0:0.738	.	220;157	B4DHL1;Q6N043	.;Z280D_HUMAN	C	157;144	ENSP00000267807:Y157C	ENSP00000267807:Y157C	Y	-	2	0	ZNF280D	54772617	1.000000	0.71417	0.355000	0.25773	0.983000	0.72400	2.039000	0.41193	0.398000	0.25338	0.477000	0.44152	TAC		TCGA-IB-7651-01A-11D-2154-08	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	1	0	1	44	209	0	56	1	9.927163e-01	3	35	0	56	2		0	0	0	0	0	2	1	1	44	204	0	55	2								-20.000000	1	1	121412	1	28	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CGNL1	84952	broad.mit.edu	37	15	57731164	57731164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57731164G>A	ENST00000281282.5	+	2	1045	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1			60					TGCCATCCATGCCGACAACGT	0.498000																								0							SO:0001583	missense			ENST00000281282.5	1	1	hg19	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531946	0.85706	.	.	ENSG00000128849	ENST00000281282	T	0.49432	0.78	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000098	T	0.61640	0.2363	L	0.57536	1.79	0.39778	D	0.972257	D	0.57899	0.981	P	0.54924	0.764	T	0.64984	-0.6278	10	0.72032	D	0.01	-23.2504	19.8119	0.96549	0.0:0.0:1.0:0.0	.	323	Q0VF96	CGNL1_HUMAN	T	323	ENSP00000281282:A323T	ENSP00000281282:A323T	A	+	1	0	CGNL1	55518456	1.000000	0.71417	0.220000	0.23810	0.979000	0.70002	4.174000	0.58256	2.664000	0.90586	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	1	0	1	40	200	0	42	0	9.221398e-01	0	24	0	42	2		0	0	0	0	0	2	1	1	40	194	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CGNL1	84952	broad.mit.edu	37	15	57754064	57754064	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57754064A>C	ENST00000281282.5	+	8	2455	c.2377A>C	c.(2377-2379)Agg>Cgg	p.R793R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1			60					GCAGGCCCTGAGGGAGAGTGT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000281282.5	1	1	hg19	CCDS10161.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	1	0	1	45	242	0	58	0	9.742218e-01	0	34	0	58	2		0	0	0	0	0	2	1	1	45	236	0	56	2								-19.998860	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ADAM10	102	broad.mit.edu	37	15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:58974499C>T	ENST00000260408.3	-	3	664	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10			27					CCTCTTCATTCGTAGGTTGAA	0.299000																								0							SO:0001583	missense			ENST00000260408.3	0	1	hg19	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697421	0.88830	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;T	0.06449	3.3;3.3	5.67	5.67	0.87782	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	M	0.66506	2.035	0.80722	D	1	P;P	0.42518	0.769;0.782	B;B	0.43386	0.322;0.418	T	0.02081	-1.1217	10	0.30854	T	0.27	-29.3089	19.7476	0.96257	0.0:1.0:0.0:0.0	.	74;74	A0AV88;O14672	.;ADA10_HUMAN	Q	74	ENSP00000260408:R74Q;ENSP00000391930:R74Q	ENSP00000260408:R74Q	R	-	2	0	ADAM10	56761791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.699000	0.68310	2.678000	0.91216	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	0	0	0	5	201	0	56	1	8.842918e-01	10	149	0	56	2		0	0	0	0	0	2	1	9.375078e-01	5	200	0	56	2								-2.998402	1	0	121400	1	29	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.300000	0.110000	0.610000	0.290000	0.329737	0.300000	0	1.900000e-01	4.500000e-01
FAM63B	54629	broad.mit.edu	37	15	59064120	59064120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59064120C>A	ENST00000559228.1	+	1	608	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B			15					CCTGGACTCTCTGGAGTCGTT	0.647000																								0							SO:0001583	missense			ENST00000559228.1	1	1	hg19	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513697	0.85389	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.60040	0.22	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.62048	0.2396	N	0.24115	0.695	0.48901	D	0.999725	D;D	0.76494	0.999;0.999	D;D	0.72075	0.946;0.976	T	0.62803	-0.6777	10	0.34782	T	0.22	-22.5119	15.8313	0.78752	0.0:1.0:0.0:0.0	.	176;176	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	M	176	ENSP00000393231:L176M	ENSP00000326194:L176M	L	+	1	2	FAM63B	56851412	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	2.083000	0.41615	1.938000	0.56188	0.543000	0.68304	CTG		TCGA-IB-7651-01A-11D-2154-08	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	1	0	1	38	207	0	42	1	8.151783e-01	3	16	0	42	2		0	0	0	0	0	2	1	1	36	199	0	41	2								-20.000000	1	1	120562	1	38	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
RNF111	54778	broad.mit.edu	37	15	59323801	59323801	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59323801C>T	ENST00000557998.1	+	2	1067	c.780C>T	c.(778-780)gaC>gaT	p.D260D	RNF111_ENST00000559209.1_Silent_p.D260D|RNF111_ENST00000348370.4_Silent_p.D260D|RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111			35					GTGAGAATGACCTCAGCAGTG	0.413000													NSCLC(72;983 1365 10746 34387 47081)											0							SO:0001819	synonymous_variant			ENST00000557998.1	1	1	hg19	CCDS58366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	1	0	0	96	516	0	111	1	9.998525e-01	18	51	0	111	2		0	0	0	0	0	2	1	1	93	507	0	111	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF111	54778	broad.mit.edu	37	15	59344625	59344625	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59344625C>T	ENST00000557998.1	+	3	1289	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	RNF111_ENST00000559209.1_Silent_p.S334S|RNF111_ENST00000348370.4_Silent_p.S334S|RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111			35					TTGGAGAAAGCTATCGGTGAG	0.313000													NSCLC(72;983 1365 10746 34387 47081)											0							SO:0001819	synonymous_variant			ENST00000557998.1	1	1	hg19	CCDS58366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	1	0	1	71	273	0	54	1	9.996496e-01	12	36	0	54	2		0	0	0	0	0	2	1	1	69	271	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF111	54778	broad.mit.edu	37	15	59368362	59368362	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59368362G>T	ENST00000557998.1	+	7	2183	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H|RNF111_ENST00000348370.4_Missense_Mutation_p.Q632H|RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111			35					CCCAGCCCCAGCCCCCTCCAC	0.507000													NSCLC(72;983 1365 10746 34387 47081)											0							SO:0001583	missense			ENST00000557998.1	1	1	hg19	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353369	0.61293	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17528	2.27;2.27	5.55	3.69	0.42338	.	0.060419	0.64402	D	0.000002	T	0.19327	0.0464	N	0.24115	0.695	0.44366	D	0.99726	D;D;D	0.64830	0.993;0.989;0.994	P;P;P	0.62740	0.891;0.781;0.906	T	0.07693	-1.0759	10	0.34782	T	0.22	-11.2479	4.6727	0.12698	0.2388:0.0:0.608:0.1532	.	632;632;632	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	H	632	ENSP00000288199:Q632H;ENSP00000393641:Q632H	ENSP00000288199:Q632H	Q	+	3	2	RNF111	57155654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.639000	0.37176	0.831000	0.34780	-0.259000	0.10710	CAG		TCGA-IB-7651-01A-11D-2154-08	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	1	0	1	126	676	0	143	1	9.999690e-01	13	67	0	143	2		0	0	0	0	0	2	1	1	120	660	0	140	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNB2	9133	broad.mit.edu	37	15	59399591	59399591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59399591G>A	ENST00000288207.2	+	2	286	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2			9					ACTATTAGGCGAACTGTTTTA	0.353000																								0							SO:0001583	missense			ENST00000288207.2	1	1	hg19	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565353	0.65651	.	.	ENSG00000157456	ENST00000288207	T	0.22539	1.95	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59096	-0.7518	10	0.87932	D	0	.	15.4855	0.75564	0.0:0.0:1.0:0.0	.	32	O95067	CCNB2_HUMAN	Q	32	ENSP00000288207:R32Q	ENSP00000288207:R32Q	R	+	2	0	CCNB2	57186883	1.000000	0.71417	0.356000	0.25785	0.461000	0.32589	6.531000	0.73820	2.410000	0.81850	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	1	0	1	63	261	0	60	1	9.963301e-01	15	23	0	60	2		0	0	0	0	0	2	1	1	63	261	0	60	2								-3.460589	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BNIP2	663	broad.mit.edu	37	15	59964895	59964895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59964895G>A	ENST00000607373.1	-	6	718	c.516C>T	c.(514-516)gtC>gtT	p.V172V	AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Silent_p.V234V|BNIP2_ENST00000267859.3_Silent_p.V293V	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2			9					GCATGAAACAGACAGCAAACA	0.333000													Ovarian(174;1936 1978 6671 8240 38212)											0							SO:0001819	synonymous_variant			ENST00000607373.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	1	0	1	40	257	0	69	1	1	50	151	0	69	2		0	0	0	0	0	2	1	1	40	250	0	68	2								-17.795960	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999879	0.990000	1	9.900000e-01	1
FOXB1	27023	broad.mit.edu	37	15	60297560	60297560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60297560C>T	ENST00000396057.4	+	2	877	c.398C>T	c.(397-399)gCc>gTc	p.A133V	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1			6					CAGCAGCAGGCCAAGCTGCGG	0.721000																								0							SO:0001583	missense			ENST00000396057.4	1	1	hg19	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846310	0.71603	.	.	ENSG00000171956	ENST00000396057	D	0.96300	-3.97	4.11	4.11	0.48088	.	0.273372	0.31370	U	0.007767	D	0.94218	0.8144	L	0.55481	1.735	0.58432	D	0.999999	B	0.26744	0.158	B	0.26864	0.074	D	0.92964	0.6391	10	0.38643	T	0.18	.	15.073	0.72053	0.0:1.0:0.0:0.0	.	133	Q99853	FOXB1_HUMAN	V	133	ENSP00000379369:A133V	ENSP00000379369:A133V	A	+	2	0	FOXB1	58084852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.622000	0.46427	2.091000	0.63221	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1	1	0	0	24	103	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999998e-01	22	102	0	19	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
NARG2	0	broad.mit.edu	37	15	60720793	60720793	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60720793T>G	ENST00000261520.4	-	15	2889	c.2655A>C	c.(2653-2655)gcA>gcC	p.A885A	NARG2_ENST00000439632.1_Silent_p.A748A	NM_024611.4	NP_078887.2						32					ACAAATTGTATGCTGTCCTAG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000261520.4	0	1	hg19	CCDS10176.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	0	0	0	7	290	0	56	0	4.050020e-01	1	52	0	56	2		0	0	0	0	0	2	1	9.802314e-01	7	287	0	56	2								-8.248938	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.280000	0.120000	0.530000	0.270000	0.308169	0.280000	0	1.900000e-01	4.100000e-01
NARG2	0	broad.mit.edu	37	15	60724161	60724161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60724161G>A	ENST00000261520.4	-	14	2767	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F	NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	NM_024611.4	NP_078887.2						32					ATGTGTTGGAGGATGTTAAAT	0.279000																								0							SO:0001583	missense			ENST00000261520.4	1	1	hg19	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102634	0.76983	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.89	4.89	0.63831	NMDA receptor-regulated gene protein 2 (1);	0.146650	0.47455	D	0.000237	T	0.77384	0.4122	M	0.65498	2.005	0.45118	D	0.998131	D	0.89917	1.0	D	0.91635	0.999	T	0.79612	-0.1731	9	0.87932	D	0	-9.5329	15.8264	0.78709	0.0:0.0:1.0:0.0	.	845	Q659A1	NARG2_HUMAN	F	845;708	.	ENSP00000261520:L845F	L	-	1	0	NARG2	58511453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.475000	0.45162	2.639000	0.89480	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	1	0	1	17	112	0	32	1	9.993806e-01	28	57	0	32	2		0	0	0	0	0	2	1	9.999752e-01	17	111	0	32	2								-9.815012	1	1	121348	3	36	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.930000	1.000000	1.000000	0.995801	0.990000	1	9.900000e-01	1
NARG2	0	broad.mit.edu	37	15	60741867	60741867	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60741867T>G	ENST00000261520.4	-	10	1533	c.1299A>C	c.(1297-1299)acA>acC	p.T433T	NARG2_ENST00000439632.1_Silent_p.T296T	NM_024611.4	NP_078887.2						32					CTTTGGGGGCTGTAGGAGCAT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000261520.4	1	1	hg19	CCDS10176.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	1	0	1	144	532	0	144	1	9.999997e-01	17	63	0	144	2		0	0	0	0	0	2	1	1	141	524	0	144	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NARG2	0	broad.mit.edu	37	15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	NM_024611.4	NP_078887.2						32					AGCTCTTAAAATTTTCTGAGA	0.303000																								0							SO:0001583	missense			ENST00000261520.4	1	1	hg19	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168405	0.38315	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.4	5.4	0.78164	.	0.454000	0.25037	N	0.033625	T	0.32436	0.0829	N	0.19112	0.55	0.26481	N	0.975115	B;B	0.27625	0.13;0.183	B;B	0.31812	0.136;0.058	T	0.37009	-0.9724	9	0.72032	D	0.01	-14.449	13.1451	0.59456	1.0:0.0:0.0:0.0	.	41;178	G3V0H6;Q659A1	.;NARG2_HUMAN	S	178;41	.	ENSP00000261520:I178S	I	-	2	0	NARG2	58536281	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.967000	0.49216	2.193000	0.70182	0.454000	0.30748	ATT		TCGA-IB-7651-01A-11D-2154-08	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	1	0	1	35	208	0	66	1	8.735727e-01	7	17	0	66	2		0	0	0	0	0	2	1	1	35	203	0	66	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999922	0.990000	1	9.900000e-01	1
RORA	6095	broad.mit.edu	37	15	60803641	60803641	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60803641T>C	ENST00000335670.6	-	5	704	c.604A>G	c.(604-606)Aac>Gac	p.N202D	RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_5'Flank|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RORA_ENST00000449337.2_Missense_Mutation_p.N147D|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000559902.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A			21					TCAATGTAGTTACTGAGGTCG	0.612000																								0							SO:0001583	missense			ENST00000335670.6	1	1	hg19	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184127	0.57800	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94330	-3.36;-3.36;-3.4;-3.32	5.9	4.78	0.61160	.	0.345548	0.38111	N	0.001813	T	0.79003	0.4373	N	0.02539	-0.55	0.34849	D	0.741446	B;B;B;B	0.33022	0.016;0.005;0.394;0.0	B;B;B;B	0.27076	0.05;0.037;0.076;0.001	T	0.78861	-0.2037	10	0.13470	T	0.59	.	9.0528	0.36387	0.0:0.1401:0.0:0.8599	.	202;227;235;147	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	D	202;147;227;235	ENSP00000335087:N202D;ENSP00000402971:N147D;ENSP00000309753:N227D;ENSP00000261523:N235D	ENSP00000261523:N235D	N	-	1	0	RORA	58590933	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.728000	0.54991	1.059000	0.40554	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2	1	0	0	52	615	0	113	1	7.552972e-01	3	31	0	113	2		0	0	0	0	0	2	1	1	52	604	0	111	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.900000	0.690000	1.000000	1.000000	0.901304	0.900000	1	7.900000e-01	1
VPS13C	54832	broad.mit.edu	37	15	62165457	62165457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62165457C>A	ENST00000261517.5	-	78	10639	c.10566G>T	c.(10564-10566)aaG>aaT	p.K3522N	VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000558919.1_5'Flank	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)			117					GCAGAAAGCCCTTTCCTCCTC	0.408000																								0							SO:0001583	missense			ENST00000261517.5	1	1	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544169	0.65198	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.53857	0.6;0.6;0.78	6.02	2.0	0.26442	Autophagy-related, C-terminal (1);	0.050323	0.85682	D	0.000000	T	0.66356	0.2781	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.998	D;D;D;D	0.76575	0.972;0.972;0.988;0.984	T	0.63301	-0.6668	10	0.39692	T	0.17	.	10.0938	0.42462	0.0:0.5936:0.0:0.4064	.	3479;3522;3479;3522	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	3479;3522;3522;3522	ENSP00000249837:K3479N;ENSP00000261517:K3522N;ENSP00000379233:K3522N	ENSP00000249837:K3479N	K	-	3	2	VPS13C	59952749	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.282000	0.33226	0.423000	0.26033	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	0	0	1	211	884	0	184	1	1	59	199	0	184	2		0	0	0	0	0	2	1	1	208	863	0	184	2								-3.462767	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS13C	54832	broad.mit.edu	37	15	62264895	62264895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62264895C>T	ENST00000261517.5	-	27	2759	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)			117					TTTTTAAGTTCTGATCCTTTC	0.333000																								0							SO:0001583	missense			ENST00000261517.5	1	1	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599160	0.28534	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16597	2.33;2.33;2.33	5.29	5.29	0.74685	.	0.357258	0.26796	N	0.022455	T	0.18676	0.0448	L	0.50333	1.59	0.43394	D	0.99551	B;B;B;B	0.30973	0.302;0.152;0.185;0.004	B;B;B;B	0.23852	0.036;0.036;0.049;0.007	T	0.02766	-1.1113	10	0.28530	T	0.3	.	19.3229	0.94250	0.0:1.0:0.0:0.0	.	853;896;853;896	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	853;896;896;896	ENSP00000249837:E853K;ENSP00000261517:E896K;ENSP00000379233:E896K	ENSP00000249837:E853K	E	-	1	0	VPS13C	60052187	0.889000	0.30405	0.955000	0.39395	0.506000	0.33950	3.224000	0.51238	2.642000	0.89623	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	1	0	1	77	375	0	96	1	9.959931e-01	10	33	0	96	2		0	0	0	0	0	2	1	1	75	373	0	95	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS13C	54832	broad.mit.edu	37	15	62283994	62283994	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62283994C>A	ENST00000261517.5	-	17	1434	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)			117					TTGCCCAGACCGAATCACCTG	0.373000																								0							SO:0001583	missense			ENST00000261517.5	1	1	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639418	0.87760	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.49139	0.79;0.79;0.95	5.78	4.86	0.63082	.	0.078555	0.48767	D	0.000166	T	0.56426	0.1984	M	0.69823	2.125	0.53688	D	0.999978	P;P;P;P	0.47350	0.894;0.798;0.798;0.696	P;P;B;B	0.48425	0.577;0.577;0.392;0.3	T	0.62163	-0.6912	10	0.66056	D	0.02	.	13.9353	0.64021	0.0:0.9261:0.0:0.0738	.	411;454;411;454	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	411;454;454;454	ENSP00000249837:R411L;ENSP00000261517:R454L;ENSP00000379233:R454L	ENSP00000249837:R411L	R	-	2	0	VPS13C	60071286	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.735000	0.62051	1.420000	0.47138	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	1	0	0	79	628	0	122	1	9.123184e-01	4	31	0	122	2		0	0	0	0	0	2	1	1	77	619	0	120	2								-2.966611	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999699	0.990000	1	9.900000e-01	1
TLN2	83660	broad.mit.edu	37	15	63019326	63019326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63019326C>T	ENST00000561311.1	+	27	3526	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V			Q9Y4G6	TLN2_HUMAN	talin 2			99					ACATCCAAGGCGGTGGGCTCC	0.532000																								0							SO:0001583	missense			ENST00000561311.1	0	1	hg19	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569842	0.45798	0.0	1.16E-4	ENSG00000171914	ENST00000306829	T	0.15139	2.45	5.27	4.33	0.51752	.	0.150976	0.64402	D	0.000013	T	0.18383	0.0441	M	0.66506	2.035	0.36145	D	0.84707	P	0.39601	0.68	B	0.31191	0.125	T	0.23297	-1.0192	10	0.33141	T	0.24	-7.9278	15.8286	0.78733	0.0:0.8591:0.1409:0.0	.	1099	Q9Y4G6	TLN2_HUMAN	V	1099	ENSP00000303476:A1099V	ENSP00000303476:A1099V	A	+	2	0	TLN2	60806618	1.000000	0.71417	0.531000	0.27976	0.411000	0.31082	6.092000	0.71414	1.300000	0.44818	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	1	0	1	43	208	1	47	1	4.788903e-01	2	7	1	47	2		0	0	0	0	0	2	1	9.998947e-01	42	206	1	46	17								-3.286293	1	1	121412	7	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TLN2	83660	broad.mit.edu	37	15	63029241	63029241	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63029241C>T	ENST00000561311.1	+	28	3753	c.3523C>T	c.(3523-3525)Ctg>Ttg	p.L1175L	TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2			99					CAAGCAGGCCCTGATTGCACC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000561311.1	1	1	hg19	CCDS32261.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	1	0	0	20	235	0	40	1	3.483922e-01	2	13	0	40	2		0	0	0	0	0	2	1	9.999956e-01	20	232	0	39	2								-2.744779	1	1	121412	1	27	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.910000	0.580000	1.000000	1.000000	0.886296	0.910000	1	7.300000e-01	1
TLN2	83660	broad.mit.edu	37	15	63084884	63084884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63084884C>A	ENST00000561311.1	+	45	6011	c.5781C>A	c.(5779-5781)ggC>ggA	p.G1927G	TLN2_ENST00000306829.6_Silent_p.G1927G			Q9Y4G6	TLN2_HUMAN	talin 2			99					TGGGCCACGGCTGTATCTTCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000561311.1	1	1	hg19	CCDS32261.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	1	0	1	57	208	0	57	1	9.877980e-01	8	20	0	57	2		0	0	0	0	0	2	1	1	56	206	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPM1	7168	broad.mit.edu	37	15	63356268	63356268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63356268C>T	ENST00000403994.3	+	9	858	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	TPM1_ENST00000317516.7_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000288398.6_Silent_p.L260L|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559281.1_Silent_p.L224L	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)			4					CATAGACGAGCTGTACGCTCA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000403994.3	1	1	hg19	CCDS45273.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	1	0	1	22	127	0	26	1	9.954446e-01	17	36	0	26	2		0	0	0	0	0	2	1	9.999991e-01	22	123	0	26	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999402	0.990000	1	9.900000e-01	1
RAB8B	51762	broad.mit.edu	37	15	63551873	63551873	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63551873C>T	ENST00000321437.4	+	6	618	c.462C>T	c.(460-462)tcC>tcT	p.S154S	RAB8B_ENST00000448330.2_Silent_p.S154S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family			9					GCGCAAAATCCAGTGCAAATG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000321437.4	1	1	hg19	CCDS10183.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	1	0	1	33	190	0	59	1	1	35	143	0	59	2		0	0	0	0	0	2	1	1	33	186	0	59	2								-2.702005	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999928	0.990000	1	9.900000e-01	1
HERC1	8925	broad.mit.edu	37	15	63916522	63916522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63916522C>T	ENST00000443617.2	-	72	13367	c.13280G>A	c.(13279-13281)aGc>aAc	p.S4427N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					ATGGGATGTGCTGTTCTGTAA	0.423000																								0							SO:0001583	missense			ENST00000443617.2	1	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614439	0.66672	.	.	ENSG00000103657	ENST00000443617	T	0.25085	1.82	5.3	5.3	0.74995	.	0.056069	0.64402	U	0.000003	T	0.20941	0.0504	N	0.22421	0.69	0.45762	D	0.998653	B	0.06786	0.001	B	0.04013	0.001	T	0.03095	-1.1073	10	0.30078	T	0.28	.	19.3238	0.94253	0.0:1.0:0.0:0.0	.	4427	Q15751	HERC1_HUMAN	N	4427	ENSP00000390158:S4427N	ENSP00000390158:S4427N	S	-	2	0	HERC1	61703575	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.797000	0.69087	2.614000	0.88457	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	62	331	0	74	1	9.997992e-01	6	63	0	74	2		0	0	0	0	0	2	1	1	57	324	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC1	8925	broad.mit.edu	37	15	63920906	63920906	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63920906T>C	ENST00000443617.2	-	70	13162	c.13075A>G	c.(13075-13077)Aca>Gca	p.T4359A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					GGTGGTGCTGTCCATGCAGCA	0.532000																								0							SO:0001583	missense			ENST00000443617.2	1	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648175	0.67358	.	.	ENSG00000103657	ENST00000443617	T	0.80033	-1.33	6.02	6.02	0.97574	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.138522	0.47093	D	0.000242	T	0.74589	0.3736	L	0.40543	1.245	0.80722	D	1	B	0.31077	0.307	B	0.24701	0.055	T	0.74751	-0.3559	10	0.72032	D	0.01	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	4359	Q15751	HERC1_HUMAN	A	4359	ENSP00000390158:T4359A	ENSP00000390158:T4359A	T	-	1	0	HERC1	61707959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.196000	0.72094	2.299000	0.77371	0.528000	0.53228	ACA		TCGA-IB-7651-01A-11D-2154-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	0	53	213	0	45	1	9.966770e-01	9	29	0	45	2		0	0	0	0	0	2	1	1	53	210	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC1	8925	broad.mit.edu	37	15	63935242	63935242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63935242G>A	ENST00000443617.2	-	59	11434	c.11347C>T	c.(11347-11349)Caa>Taa	p.Q3783*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					acaacagtttgcaagACAGAG	0.348000																								0							SO:0001587	stop_gained			ENST00000443617.2	0	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	52	19.959870	0.99925	.	.	ENSG00000103657	ENST00000443617	.	.	.	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.8081	0.57626	0.0:0.0:1.0:0.0	.	.	.	.	X	3783	.	ENSP00000390158:Q3783X	Q	-	1	0	HERC1	61722295	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.926000	0.75835	2.153000	0.67306	0.467000	0.42956	CAA		TCGA-IB-7651-01A-11D-2154-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	18	85	0	18	1	9.990023e-01	5	53	0	18	2		0	0	0	0	0	2	1	9.999859e-01	18	81	0	18	2								-12.663270	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999676	0.990000	1	9.900000e-01	1
HERC1	8925	broad.mit.edu	37	15	63967220	63967220	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63967220C>T	ENST00000443617.2	-	38	7254	c.7167G>A	c.(7165-7167)acG>acA	p.T2389T	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					GCACAGAAGCCGTCAGGCCTC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000443617.2	1	1	hg19	CCDS45277.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	108	468	0	123	1	9.982032e-01	7	35	0	123	2		0	0	0	0	0	2	1	1	104	454	0	122	2								-3.436787	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC1	8925	broad.mit.edu	37	15	64017505	64017505	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64017505T>G	ENST00000443617.2	-	18	3641	c.3554A>C	c.(3553-3555)gAc>gCc	p.D1185A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					TTGAGGAGTGTCCATTTCTAC	0.448000																								0							SO:0001583	missense			ENST00000443617.2	1	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564733	0.65651	.	.	ENSG00000103657	ENST00000443617	T	0.24350	1.86	5.44	5.44	0.79542	.	0.287715	0.31450	N	0.007624	T	0.19886	0.0478	N	0.19112	0.55	0.54753	D	0.999989	B	0.24186	0.099	B	0.22601	0.04	T	0.03673	-1.1014	10	0.66056	D	0.02	.	15.8085	0.78534	0.0:0.0:0.0:1.0	.	1185	Q15751	HERC1_HUMAN	A	1185	ENSP00000390158:D1185A	ENSP00000390158:D1185A	D	-	2	0	HERC1	61804558	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.187000	0.72039	2.199000	0.70637	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	27	146	0	40	0	6.303512e-01	1	12	0	40	2		0	0	0	0	0	2	1	1	27	142	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999890	0.990000	1	9.900000e-01	1
HERC1	8925	broad.mit.edu	37	15	64019960	64019960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64019960C>T	ENST00000443617.2	-	17	3319	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					AAAGGCCGAGCCACTGACACA	0.468000																								0							SO:0001583	missense			ENST00000443617.2	1	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857267	0.71834	.	.	ENSG00000103657	ENST00000443617	T	0.41758	0.99	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000001	T	0.27731	0.0682	N	0.12182	0.205	0.80722	D	1	P	0.43750	0.816	B	0.39068	0.289	T	0.05517	-1.0880	10	0.19147	T	0.46	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	1078	Q15751	HERC1_HUMAN	T	1078	ENSP00000390158:A1078T	ENSP00000390158:A1078T	A	-	1	0	HERC1	61807013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.528000	0.85240	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	27	202	0	69	0	2.977741e-01	1	8	0	69	2		0	0	0	0	0	2	1	1	26	196	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.930000	1.000000	1.000000	0.996342	0.990000	1	9.900000e-01	1
HERC1	8925	broad.mit.edu	37	15	64025296	64025296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64025296C>T	ENST00000443617.2	-	14	2782	c.2695G>A	c.(2695-2697)Gta>Ata	p.V899I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					AGGGAGGCTACGTGGGTATGA	0.423000																								0							SO:0001583	missense			ENST00000443617.2	1	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458896	0.63401	.	.	ENSG00000103657	ENST00000443617	T	0.24538	1.85	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000006	T	0.36880	0.0983	N	0.20685	0.6	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.07908	-1.0748	10	0.29301	T	0.29	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	899	Q15751	HERC1_HUMAN	I	899	ENSP00000390158:V899I	ENSP00000390158:V899I	V	-	1	0	HERC1	61812349	1.000000	0.71417	0.916000	0.36221	0.951000	0.60555	7.709000	0.84645	2.658000	0.90341	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	94	426	0	128	0	7.490125e-01	0	14	0	128	2		0	0	0	0	0	2	1	1	92	415	0	127	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC1	8925	broad.mit.edu	37	15	64050478	64050478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64050478C>T	ENST00000443617.2	-	4	1204	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1			132					ACATAAACCTCACAGGTTTCG	0.448000																								0							SO:0001583	missense			ENST00000443617.2	1	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712006	0.96830	.	.	ENSG00000103657	ENST00000443617	D	0.84800	-1.9	5.35	5.35	0.76521	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.64402	U	0.000001	D	0.88676	0.6501	L	0.37630	1.12	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62885	0.908;0.908	D	0.89424	0.3712	10	0.66056	D	0.02	.	19.4276	0.94749	0.0:1.0:0.0:0.0	.	373;373	C9JUT5;Q15751	.;HERC1_HUMAN	K	373	ENSP00000390158:E373K	ENSP00000390158:E373K	E	-	1	0	HERC1	61837531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.647000	0.89833	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	43	171	0	48	1	6.819318e-01	2	9	0	48	2		0	0	0	0	0	2	1	1	43	168	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM96A	84191	broad.mit.edu	37	15	64380897	64380897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64380897G>A	ENST00000300030.3	-	2	527	c.278C>T	c.(277-279)gCg>gTg	p.A93V	FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V|FAM96A_ENST00000557835.1_Missense_Mutation_p.A93V	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A			9					AATAAGAGTCGCCAAAGAGCA	0.343000																								0							SO:0001583	missense			ENST00000300030.3	1	1	hg19	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099840	0.94197	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.057092	0.64402	N	0.000001	T	0.79695	0.4490	M	0.76727	2.345	0.80722	D	1	D;P	0.89917	1.0;0.892	D;B	0.91635	0.999;0.201	T	0.80522	-0.1345	9	0.62326	D	0.03	-22.9898	17.573	0.87940	0.0:0.0:1.0:0.0	.	93;93	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	V	93	.	ENSP00000300030:A93V	A	-	2	0	FAM96A	62167950	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.339000	0.96797	2.735000	0.93741	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	1	0	1	30	112	0	23	1	1	117	352	0	23	2		0	0	0	0	0	2	1	1	30	107	0	23	2								-19.837010	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SNX1	6642	broad.mit.edu	37	15	64404870	64404870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64404870G>T	ENST00000559844.1	+	2	272	c.258G>T	c.(256-258)caG>caT	p.Q86H	SNX1_ENST00000261889.5_Missense_Mutation_p.Q86H|SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H|SNX1_ENST00000353874.4_Missense_Mutation_p.Q86H|Y_RNA_ENST00000364201.1_RNA|SNX1_ENST00000560829.1_5'UTR			Q13596	SNX1_HUMAN	sorting nexin 1			13					AAGAGCCACAGGATCTCTTTG	0.388000																								0							SO:0001583	missense			ENST00000559844.1	1	1	hg19	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138485	0.56936	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T;T	0.46451	0.87;0.87;0.87	5.66	0.545	0.17190	.	0.507362	0.16503	N	0.211577	T	0.45657	0.1353	L	0.29908	0.895	0.45403	D	0.998383	D;D;P;D	0.60575	0.972;0.988;0.934;0.972	P;D;P;P	0.72338	0.873;0.977;0.62;0.796	T	0.22138	-1.0225	10	0.34782	T	0.22	-4.0139	8.7912	0.34852	0.3806:0.0:0.6194:0.0	.	86;86;86;86	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	H	86	ENSP00000369638:Q86H;ENSP00000326668:Q86H;ENSP00000261889:Q86H	ENSP00000261889:Q86H	Q	+	3	2	SNX1	62191923	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	0.719000	0.25881	0.075000	0.16796	-0.258000	0.10820	CAG		TCGA-IB-7651-01A-11D-2154-08	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	1	0	1	31	135	0	48	1	1	91	271	0	48	2		0	0	0	0	0	2	1	1	31	132	0	47	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ZNF609	23060	broad.mit.edu	37	15	64915077	64915077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64915077C>T	ENST00000326648.3	+	2	927	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609			39					CCTTTTGGTGCCAGTGGTCAA	0.512000																								0							SO:0001583	missense			ENST00000326648.3	1	1	hg19	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258531	0.23051	.	.	ENSG00000180357	ENST00000326648	T	0.50813	0.73	5.61	5.61	0.85477	.	0.116785	0.64402	D	0.000009	T	0.41604	0.1166	L	0.31664	0.95	0.80722	D	1	P	0.36683	0.565	B	0.41917	0.37	T	0.14476	-1.0471	10	0.07030	T	0.85	-22.871	19.6299	0.95698	0.0:1.0:0.0:0.0	.	267	O15014	ZN609_HUMAN	S	267	ENSP00000316527:P267S	ENSP00000316527:P267S	P	+	1	0	ZNF609	62702130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.044000	0.49830	2.639000	0.89480	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	0	0	0	26	669	0	133	0	3.516262e-01	1	31	0	133	2		0	0	0	0	0	2	1	9.999999e-01	26	656	0	133	2								-3.654053	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.430000	0.290000	0.620000	0.430000	0.450534	0.430000	0	3.600000e-01	5.300000e-01
ZNF609	23060	broad.mit.edu	37	15	64962610	64962610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64962610C>T	ENST00000326648.3	+	3	1167	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609			39					TGACTGCACACGACATGATTG	0.403000																								0							SO:0001587	stop_gained			ENST00000326648.3	0	1	hg19	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.093044	0.97276	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.34	3.32	0.38043	.	0.059257	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8235	13.6805	0.62481	0.2903:0.7097:0.0:0.0	.	.	.	.	X	347	.	ENSP00000316527:R347X	R	+	1	2	ZNF609	62749663	0.984000	0.35163	0.950000	0.38849	0.991000	0.79684	1.511000	0.35801	0.516000	0.28340	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	1	0	1	66	324	0	107	1	9.598005e-01	2	26	0	107	2		0	0	0	0	0	2	1	1	66	318	0	107	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIF1	80119	broad.mit.edu	37	15	65111378	65111378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65111378C>T	ENST00000268043.4	-	9	1472	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	PIF1_ENST00000333425.6_Missense_Mutation_p.A460T|PIF1_ENST00000559239.1_Missense_Mutation_p.A460T					PIF1 5'-to-3' DNA helicase			2					AGGGTACTGGCCAGCTCAGGG	0.542000																								0							SO:0001583	missense			ENST00000268043.4	1	1	hg19	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	0.918	-0.716799	0.03206	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.76968	-1.06;-1.06	5.11	3.16	0.36331	.	0.295485	0.36740	N	0.002427	T	0.50429	0.1615	N	0.03903	-0.33	0.26512	N	0.974573	B	0.17852	0.024	B	0.20384	0.029	T	0.35919	-0.9769	10	0.13470	T	0.59	-12.1785	7.4709	0.27349	0.1659:0.7433:0.0:0.0908	.	460	Q9H611	PIF1_HUMAN	T	460	ENSP00000268043:A460T;ENSP00000328174:A460T	ENSP00000268043:A460T	A	-	1	0	PIF1	62898431	1.000000	0.71417	0.342000	0.25602	0.133000	0.20885	4.742000	0.62103	0.606000	0.29965	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	1	0	0	8	152	0	37	0	1.867092e-02	0	4	0	37	2		0	0	0	0	0	2	1	9.894053e-01	8	150	0	37	2								-10.744640	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.600000	0.280000	1.000000	1.000000	0.624929	0.600000	0	4.200000e-01	8.200000e-01
PIF1	80119	broad.mit.edu	37	15	65112092	65112092	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65112092C>A	ENST00000268043.4	-	8	1381	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H|PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H					PIF1 5'-to-3' DNA helicase			2					CCACATCATCCTGGTGGGTGC	0.617000																								0							SO:0001583	missense			ENST00000268043.4	1	1	hg19	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884722	0.51908	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77489	-1.1;-1.1	5.62	4.7	0.59300	.	0.047074	0.85682	D	0.000000	T	0.79305	0.4423	L	0.36672	1.1	0.40223	D	0.977751	D	0.69078	0.997	D	0.64410	0.925	T	0.79245	-0.1883	10	0.48119	T	0.1	-29.2408	8.5208	0.33275	0.0:0.8264:0.0:0.1736	.	429	Q9H611	PIF1_HUMAN	H	429	ENSP00000268043:Q429H;ENSP00000328174:Q429H	ENSP00000268043:Q429H	Q	-	3	2	PIF1	62899145	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	0.885000	0.28227	1.379000	0.46325	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	1	0	0	18	376	0	85	0	6.996282e-03	0	3	0	85	2		0	0	0	0	0	2	1	9.999807e-01	18	370	0	84	2								-18.619980	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.530000	0.330000	0.800000	0.530000	0.554881	0.530000	0	4.200000e-01	6.700000e-01
PLEKHO2	80301	broad.mit.edu	37	15	65157620	65157620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65157620C>T	ENST00000323544.4	+	6	1134	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2			25					GCCACCTGCTCCAGGCACAGT	0.602000																								0							SO:0001583	missense			ENST00000323544.4	1	1	hg19	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720908	0.15372	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.42	3.55	0.40652	.	0.419926	0.26796	N	0.022445	T	0.19248	0.0462	N	0.20986	0.625	0.09310	N	1	B;P	0.43094	0.06;0.799	B;B	0.36845	0.032;0.234	T	0.09907	-1.0653	10	0.17369	T	0.5	.	8.1887	0.31354	0.0:0.8176:0.0:0.1824	.	286;336	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	S	336	ENSP00000326706:P336S	ENSP00000326706:P336S	P	+	1	0	PLEKHO2	62944673	0.004000	0.15560	0.010000	0.14722	0.008000	0.06430	1.931000	0.40134	0.662000	0.31006	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	1	0	1	56	276	0	72	1	9.999997e-01	11	101	0	72	2		0	0	0	0	0	2	1	1	56	268	0	72	2								-3.054502	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKDD1A	348094	broad.mit.edu	37	15	65236895	65236895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65236895G>T	ENST00000380230.3	+	12	1141	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I|ANKDD1A_ENST00000357698.3_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A			21					AACCATGTCAGCCTGGTGGAC	0.502000																								0							SO:0001583	missense			ENST00000380230.3	1	1	hg19	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812775	0.32053	.	.	ENSG00000166839	ENST00000380230;ENST00000395720	T;T	0.64991	-0.13;-0.13	5.23	4.33	0.51752	Ankyrin repeat-containing domain (4);	0.364418	0.26244	N	0.025498	T	0.48892	0.1525	L	0.41236	1.265	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	T	0.50276	-0.8847	10	0.56958	D	0.05	-23.632	4.8555	0.13557	0.1712:0.0:0.6581:0.1707	.	371	Q495B1	AKD1A_HUMAN	I	371	ENSP00000369579:S371I;ENSP00000379070:S371I	ENSP00000369579:S371I	S	+	2	0	ANKDD1A	63023948	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.578000	0.36525	1.456000	0.47831	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	1	0	0	18	163	0	51	0	4.649392e-01	1	14	0	51	2		0	0	0	0	0	2	1	9.999843e-01	18	160	0	50	2								-19.999990	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.720000	1.000000	1.000000	0.968466	0.990000	1	9.200000e-01	1
MTFMT	123263	broad.mit.edu	37	15	65316129	65316129	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65316129G>A	ENST00000220058.4	-	3	436	c.423C>T	c.(421-423)ggC>ggT	p.G141G	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase			10				Tetrahydrofolic acid(DB00116)	CATTCAATATGCCACTGAGTT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000220058.4	1	1	hg19	CCDS45280.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	1	0	1	39	110	0	29	1	9.999323e-01	9	37	0	29	2		0	0	0	0	0	2	1	1	38	106	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLPX	10845	broad.mit.edu	37	15	65448058	65448058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65448058C>T	ENST00000300107.3	-	10	1471	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit			16					GCTGATGATTCTGTCTAAACC	0.398000																								0							SO:0001583	missense			ENST00000300107.3	1	1	hg19	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551455	0.45487	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.38240	1.15	5.98	5.98	0.97165	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.02111	-0.68	0.80722	D	1	B	0.24132	0.098	B	0.34180	0.177	T	0.17592	-1.0364	10	0.05351	T	0.99	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	428	O76031	CLPX_HUMAN	K	428	ENSP00000300107:R428K	ENSP00000300107:R428K	R	-	2	0	CLPX	63235111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.838000	0.97847	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	1	0	1	110	458	0	89	1	1	58	119	0	89	2		0	0	0	0	0	2	1	1	110	451	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP16	54956	broad.mit.edu	37	15	65555562	65555562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65555562C>T	ENST00000444347.2	-	2	687	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	PARP16_ENST00000261888.6_Missense_Mutation_p.G206S			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16			9					AGGATGGGGCCGAGGAGGCTG	0.587000													NSCLC(50;885 1163 13509 21242 41978)											0							SO:0001583	missense			ENST00000444347.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.460407	0.96240	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.61510	0.74;0.1	5.6	5.6	0.85130	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.53671	1.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.987;0.989;0.993	T	0.68032	-0.5516	10	0.33141	T	0.24	-29.5579	18.6133	0.91294	0.0:1.0:0.0:0.0	.	206;91;206	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	S	206;91	ENSP00000261888:G206S;ENSP00000396118:G91S	ENSP00000261888:G206S	G	-	1	0	PARP16	63342615	1.000000	0.71417	0.957000	0.39632	0.962000	0.63368	7.711000	0.84669	2.636000	0.89361	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	1	0	1	31	157	0	41	1	9.977225e-01	21	30	0	41	2		0	0	0	0	0	2	1	1	30	154	0	41	2								-3.133539	1	1	121412	7	36	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
PARP16	54956	broad.mit.edu	37	15	65578689	65578689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65578689G>A	ENST00000444347.2	-	1	492	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	PARP16_ENST00000558873.1_Intron|PARP16_ENST00000261888.6_Missense_Mutation_p.L26F|SNORA24_ENST00000384176.1_RNA			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16			9					GAGGCGAAGAGGCTGCACCGG	0.726000													NSCLC(50;885 1163 13509 21242 41978)											0							SO:0001583	missense			ENST00000444347.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.84	1.462976	0.26248	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.60171	0.43;0.21	3.29	-0.0327	0.13904	.	0.234953	0.36482	N	0.002573	T	0.47322	0.1439	L	0.59436	1.845	0.28420	N	0.917767	B;B;B	0.28178	0.202;0.0;0.039	B;B;B	0.29663	0.105;0.003;0.049	T	0.41787	-0.9489	10	0.45353	T	0.12	-10.0549	6.6763	0.23095	0.4103:0.0:0.5897:0.0	.	26;26;26	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	F	26	ENSP00000261888:L26F;ENSP00000396118:L26F	ENSP00000261888:L26F	L	-	1	0	PARP16	63365742	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.199000	0.42715	0.131000	0.18576	-0.481000	0.04817	CTC		TCGA-IB-7651-01A-11D-2154-08	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	1	0	0	16	82	0	9	1	5.694908e-01	3	8	0	9	2		0	0	0	0	0	2	1	9.999596e-01	16	82	0	8	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999036	0.990000	1	9.900000e-01	1
IGDCC3	9543	broad.mit.edu	37	15	65623869	65623869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65623869G>T	ENST00000327987.4	-	8	1528	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3			30					ATTGCGGGGAGGCCCGGGGAG	0.622000																								0							SO:0001583	missense			ENST00000327987.4	1	1	hg19	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861591	0.51482	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.59906	0.23	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215894	0.41605	D	0.000857	T	0.78880	0.4353	M	0.85777	2.775	0.46849	D	0.999225	D	0.71674	0.998	D	0.70487	0.969	T	0.83357	-0.0000	10	0.87932	D	0	-10.6279	18.1374	0.89624	0.0:0.0:1.0:0.0	.	426	Q8IVU1	IGDC3_HUMAN	H	426;289	ENSP00000332773:P426H	ENSP00000332773:P426H	P	-	2	0	IGDCC3	63410922	1.000000	0.71417	0.948000	0.38648	0.318000	0.28184	4.402000	0.59722	2.241000	0.73720	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	1	0	1	45	139	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	41	135	0	30	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGDCC4	57722	broad.mit.edu	37	15	65678349	65678349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65678349C>T	ENST00000352385.2	-	18	3209	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4			44					TGGAGTACAGCGCGGGATTCC	0.662000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000352385.2	0	1	hg19	CCDS10206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	0	0	0	18	76	0	20	0	2.605466e-01	1	4	0	20	2		0	0	0	0	0	2	1	9.999392e-01	14	62	0	12	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999845	0.990000	1	9.900000e-01	1
IGDCC4	57722	broad.mit.edu	37	15	65682504	65682504	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65682504G>T	ENST00000352385.2	-	13	2606	c.2397C>A	c.(2395-2397)acC>acA	p.T799T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4			44					TGGTGTAATAGGTGACCAGGG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000352385.2	1	1	hg19	CCDS10206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	1	0	1	47	277	0	86	0	1.608592e-01	0	5	0	86	2		0	0	0	0	0	2	1	1	47	275	0	87	2								-3.224545	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
IGDCC4	57722	broad.mit.edu	37	15	65688258	65688258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688258G>A	ENST00000352385.2	-	7	1450	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4			44					GGCAGCGCACGCCATTCCCGC	0.701000																								0							SO:0001583	missense			ENST00000352385.2	1	1	hg19	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771226	0.49680	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.67171	-0.25	4.45	4.45	0.53987	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	N	0.11927	0.2	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65932	-0.6048	10	0.21014	T	0.42	-25.2419	17.4669	0.87635	0.0:0.0:1.0:0.0	.	414	Q8TDY8	IGDC4_HUMAN	V	414;143	ENSP00000319623:A414V	ENSP00000319623:A414V	A	-	2	0	IGDCC4	63475311	1.000000	0.71417	0.021000	0.16686	0.302000	0.27658	9.761000	0.98940	2.187000	0.69744	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	1	0	0	16	57	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999255e-01	16	50	0	19	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999876	0.990000	1	9.900000e-01	1
IGDCC4	57722	broad.mit.edu	37	15	65688350	65688350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688350G>A	ENST00000352385.2	-	7	1358	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4			44					CGCCGCCCTGGACCTTGACGC	0.731000																								0							SO:0001819	synonymous_variant			ENST00000352385.2	0	1	hg19	CCDS10206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	1	0	0	11	44	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.984982e-01	10	42	0	9	2								-19.994560	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998577	0.990000	1	9.900000e-01	1
IGDCC4	57722	broad.mit.edu	37	15	65694733	65694733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65694733C>T	ENST00000352385.2	-	4	865	c.656G>A	c.(655-657)cGc>cAc	p.R219H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4			44					GAAGTGCTGGCGAGCTGAGTT	0.622000																								0							SO:0001583	missense			ENST00000352385.2	0	1	hg19	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	5.100	0.204122	0.09704	2.28E-4	0.0	ENSG00000103742	ENST00000352385	T	0.67171	-0.25	5.4	-0.629	0.11533	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.674300	0.15537	N	0.257185	T	0.43188	0.1236	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25502	-1.0130	10	0.33141	T	0.24	-1.3428	9.526	0.39165	0.0:0.4041:0.0:0.5959	.	219	Q8TDY8	IGDC4_HUMAN	H	219	ENSP00000319623:R219H	ENSP00000319623:R219H	R	-	2	0	IGDCC4	63481786	0.000000	0.05858	0.015000	0.15790	0.058000	0.15608	0.469000	0.22067	-0.005000	0.14395	-0.140000	0.14226	CGC		TCGA-IB-7651-01A-11D-2154-08	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	0	0	1	6	21	0	12	0	5.157855e-01	0	7	0	12	2		0	0	0	0	0	2	1	9.711907e-01	6	21	0	12	2								-14.383650	1	1	119650	5	30	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.860000	1.000000	1.000000	0.991758	0.990000	1	9.900000e-01	1
SLC24A1	9187	broad.mit.edu	37	15	65917907	65917907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65917907G>A	ENST00000261892.6	+	2	1776	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	SLC24A1_ENST00000537259.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A497T|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A497T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A497T|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A497T	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	p.A497T(1)		23					TGTGGCAGGCGCCACATTCAT	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000261892.6	1	1	hg19	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329097	0.95733	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.39	5.39	0.77823	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.90079	0.4169	10	0.87932	D	0	.	18.3245	0.90248	0.0:0.0:1.0:0.0	.	497;497;497;497;497	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	T	497	ENSP00000439693:A497T;ENSP00000261892:A497T;ENSP00000341837:A497T;ENSP00000445163:A497T;ENSP00000381991:A497T;ENSP00000439190:A497T	ENSP00000261892:A497T	A	+	1	0	SLC24A1	63704961	1.000000	0.71417	0.643000	0.29450	0.893000	0.52053	9.596000	0.98267	2.808000	0.96608	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	1	0	1	117	379	0	76	1	9.993873e-01	12	26	0	76	2		0	0	0	0	0	2	1	1	109	329	0	56	2								-1.916362	0	1	120984	2	34	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC24A1	9187	broad.mit.edu	37	15	65918300	65918300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65918300C>A	ENST00000261892.6	+	2	2169	c.1882C>A	c.(1882-1884)Ctc>Atc	p.L628I	SLC24A1_ENST00000537259.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L628I|SLC24A1_ENST00000399033.4_Missense_Mutation_p.L628I|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L628I|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L628I	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1			23					CTTAGAAGACCTCAGCAAGGT	0.522000																								0							SO:0001583	missense			ENST00000261892.6	1	1	hg19	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957923	0.53400	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.69306	0.01;-0.37;-0.21;0.11;-0.39;-0.21	5.53	1.53	0.23141	.	0.867616	0.10298	N	0.691508	T	0.65354	0.2683	M	0.73598	2.24	0.21386	N	0.999701	P;B;B;P;P	0.46912	0.583;0.447;0.447;0.886;0.885	B;B;B;B;B	0.44163	0.14;0.066;0.066;0.425;0.443	T	0.53337	-0.8453	10	0.38643	T	0.18	.	6.1408	0.20259	0.1316:0.6591:0.0:0.2094	.	628;628;628;628;628	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	I	628	ENSP00000439693:L628I;ENSP00000261892:L628I;ENSP00000341837:L628I;ENSP00000445163:L628I;ENSP00000381991:L628I;ENSP00000439190:L628I	ENSP00000261892:L628I	L	+	1	0	SLC24A1	63705354	0.989000	0.36119	0.744000	0.31058	0.611000	0.37282	0.712000	0.25779	0.137000	0.18759	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	0	0	1	75	348	0	89	1	9.892764e-01	7	28	0	89	2		0	0	0	0	0	2	1	1	73	337	0	89	2								-2.901469	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND4A	10260	broad.mit.edu	37	15	65982789	65982789	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65982789C>A	ENST00000431932.2	-	22	4219	c.4011G>T	c.(4009-4011)tgG>tgT	p.W1337C	DENND4A_ENST00000443035.3_Missense_Mutation_p.W1380C|DENND4A_ENST00000567323.1_5'UTR	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A			51					ATCTTGAATACCATTTGCTTG	0.373000																								0							SO:0001583	missense			ENST00000431932.2	1	1	hg19	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147367	0.57151	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.07444	3.24;3.19	5.46	5.46	0.80206	.	0.311255	0.33199	N	0.005172	T	0.26122	0.0637	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68192	0.921;0.956	T	0.00184	-1.1944	10	0.62326	D	0.03	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	1380;1337	E7EPL3;Q7Z401	.;MYCPP_HUMAN	C	1380;1337	ENSP00000391167:W1380C;ENSP00000396830:W1337C	ENSP00000396830:W1337C	W	-	3	0	DENND4A	63769843	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.684000	0.46951	2.576000	0.86940	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	1	0	1	25	155	0	41	1	9.994103e-01	25	51	0	41	2		0	0	0	0	0	2	1	9.999998e-01	24	148	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999311	0.990000	1	9.900000e-01	1
DENND4A	10260	broad.mit.edu	37	15	66007885	66007885	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66007885G>T	ENST00000431932.2	-	14	2092	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L	DENND4A_ENST00000443035.3_Missense_Mutation_p.F628L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A			51					ATTCTTCAATGAAGCGAATAA	0.338000																								0							SO:0001583	missense			ENST00000431932.2	0	1	hg19	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583130	0.86748	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.72167	-0.63;-0.63	5.41	3.51	0.40186	dDENN (3);	0.092891	0.85682	D	0.000000	D	0.83704	0.5312	M	0.87682	2.9	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.99;0.998;0.995	D	0.85024	0.0913	10	0.87932	D	0	.	9.3824	0.38322	0.2213:0.0:0.7787:0.0	.	628;628;628	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	L	628	ENSP00000391167:F628L;ENSP00000396830:F628L	ENSP00000396830:F628L	F	-	3	2	DENND4A	63794939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.552000	0.53705	1.264000	0.44198	0.591000	0.81541	TTC		TCGA-IB-7651-01A-11D-2154-08	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	0	0	0	16	73	0	27	1	9.956696e-01	14	31	0	27	2		0	0	0	0	0	2	1	9.999584e-01	16	72	0	27	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999525	0.990000	1	9.900000e-01	1
DENND4A	10260	broad.mit.edu	37	15	66031062	66031062	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66031062A>G	ENST00000431932.2	-	6	991	c.783T>C	c.(781-783)acT>acC	p.T261T	DENND4A_ENST00000443035.3_Silent_p.T261T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A			51					CTGAGGCTCCAGTTAAAACAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000431932.2	1	1	hg19	CCDS45285.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	1	0	1	74	329	0	101	1	9.980340e-01	15	29	0	101	2		0	0	0	0	0	2	1	1	73	320	0	100	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND4A	10260	broad.mit.edu	37	15	66044893	66044893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66044893C>T	ENST00000431932.2	-	4	593	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A129T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A			51					CTAATATTTGCGGGGCGCCCA	0.358000																								0							SO:0001583	missense			ENST00000431932.2	0	1	hg19	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635091	0.67130	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26810	1.71;1.71	5.1	4.19	0.49359	MABP domain (1);	0.054418	0.64402	N	0.000001	T	0.52484	0.1737	M	0.80183	2.485	0.80722	D	1	P;D;D	0.89917	0.945;1.0;1.0	P;D;D	0.87578	0.621;0.998;0.997	T	0.59616	-0.7421	10	0.87932	D	0	.	13.7123	0.62675	0.0:0.9252:0.0:0.0748	.	129;129;129	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	129	ENSP00000391167:A129T;ENSP00000396830:A129T	ENSP00000396830:A129T	A	-	1	0	DENND4A	63831947	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	7.747000	0.85070	1.268000	0.44264	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	1	0	0	17	85	0	15	1	9.494479e-01	7	21	0	15	2		0	0	0	0	0	2	1	9.999739e-01	16	83	0	15	2								-11.875290	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999371	0.990000	1	9.900000e-01	1
RAB11A	8766	broad.mit.edu	37	15	66170283	66170283	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66170283A>T	ENST00000261890.2	+	3	548	c.420A>T	c.(418-420)agA>agT	p.R140S	RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S|RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S|RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family			5					ATGAAGCAAGAGCTTTTGCAG	0.378000																								0							SO:0001583	missense			ENST00000261890.2	1	1	hg19	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732545	0.48939	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	T;T	0.76578	-1.03;-1.03	5.59	4.4	0.53042	Small GTP-binding protein domain (1);	0.045017	0.85682	D	0.000000	T	0.61813	0.2377	N	0.20328	0.56	0.53688	D	0.999975	B;B	0.14805	0.001;0.011	B;B	0.14023	0.002;0.01	T	0.61043	-0.7142	10	0.59425	D	0.04	.	7.7218	0.28736	0.7179:0.1441:0.0:0.138	.	140;140	B4DT13;P62491	.;RB11A_HUMAN	S	140	ENSP00000261890:R140S;ENSP00000405767:R140S	ENSP00000261890:R140S	R	+	3	2	RAB11A	63957337	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.411000	0.21115	2.132000	0.65825	0.533000	0.62120	AGA		TCGA-IB-7651-01A-11D-2154-08	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1	1	0	1	99	506	0	142	1	1	457	800	0	142	2		0	0	0	0	0	2	1	1	96	496	0	141	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEGF11	84465	broad.mit.edu	37	15	66190303	66190303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190303G>A	ENST00000409699.2	-	23	3276	c.3104C>T	c.(3103-3105)gCc>gTc	p.A1035V	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V|MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11			19					CGGCCCATTGGCAGGGCTCTG	0.483000																								0							SO:0001583	missense			ENST00000409699.2	1	1	hg19	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175873	0.57692	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.86956	-2.19;-2.07;-2.19;-2.07	5.23	5.23	0.72850	.	0.206026	0.23813	U	0.044314	T	0.81800	0.4899	N	0.22421	0.69	0.80722	D	1	B;B	0.28933	0.146;0.228	B;B	0.30855	0.057;0.121	T	0.80547	-0.1334	10	0.62326	D	0.03	.	17.9876	0.89159	0.0:0.0:1.0:0.0	.	1035;960	A6BM72;A6BM72-2	MEG11_HUMAN;.	V	1035;960;1035;960	ENSP00000386908:A1035V;ENSP00000288745:A960V;ENSP00000414475:A1035V;ENSP00000378987:A960V	ENSP00000288745:A960V	A	-	2	0	MEGF11	63977357	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.576000	0.60915	2.713000	0.92767	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	1	0	1	78	375	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	78	364	0	82	2								-20.000000	1	0	121408	2	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEGF11	84465	broad.mit.edu	37	15	66190367	66190367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190367C>T	ENST00000409699.2	-	23	3212	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N|MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11			19					CTAGGTAGGTCGTATGCATTC	0.478000																								0							SO:0001583	missense			ENST00000409699.2	1	1	hg19	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838665	0.71373	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.95103	-3.61;-3.5;-3.61;-3.5	5.03	4.12	0.48240	.	0.000000	0.39020	U	0.001487	D	0.92064	0.7485	M	0.73217	2.22	0.80722	D	1	B;B	0.34255	0.445;0.374	B;B	0.20577	0.03;0.025	D	0.91630	0.5318	10	0.87932	D	0	.	13.2972	0.60305	0.0:0.9244:0.0:0.0756	.	1014;939	A6BM72;A6BM72-2	MEG11_HUMAN;.	N	1014;939;1014;939	ENSP00000386908:D1014N;ENSP00000288745:D939N;ENSP00000414475:D1014N;ENSP00000378987:D939N	ENSP00000288745:D939N	D	-	1	0	MEGF11	63977421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.452000	0.52971	1.345000	0.45676	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	1	0	1	44	220	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	44	218	0	45	2								-19.999800	1	0	121408	1	31	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DIS3L	115752	broad.mit.edu	37	15	66607510	66607510	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66607510C>T	ENST00000319212.4	+	7	1001	c.951C>T	c.(949-951)gaC>gaT	p.D317D	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Silent_p.D183D|DIS3L_ENST00000319194.5_Silent_p.D234D	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease			33					ATGACTGTGACGACAAGGCTT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000319212.4	0	1	hg19	CCDS45286.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	0	0	0	9	366	0	74	0	5.220772e-01	1	67	0	74	2		0	0	0	0	0	2	1	9.939205e-01	9	360	0	74	2								-8.726091	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.290000	0.140000	0.500000	0.280000	0.306595	0.290000	0	2.000000e-01	4.000000e-01
TIPIN	54962	broad.mit.edu	37	15	66633578	66633578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66633578C>T	ENST00000261881.4	-	7	677	c.592G>A	c.(592-594)Gag>Aag	p.E198K	TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein			7					TGTTGTTGCTCTTCTGTTAGG	0.373000																								0							SO:0001583	missense			ENST00000261881.4	1	1	hg19	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441037	0.96168	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.32753	1.44;1.88	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.53933	-0.8368	10	0.72032	D	0.01	-11.8662	18.1069	0.89523	0.0:1.0:0.0:0.0	.	198	Q9BVW5	TIPIN_HUMAN	K	97;198	ENSP00000356682:E97K;ENSP00000261881:E198K	ENSP00000261881:E198K	E	-	1	0	TIPIN	64420632	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.448000	0.60027	2.530000	0.85305	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	1	0	1	34	345	0	86	1	9.216145e-01	12	34	0	86	2		0	0	0	0	0	2	1	1	34	334	0	86	2								-3.075755	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.740000	1.000000	1.000000	0.959735	0.990000	1	8.800000e-01	1
MAP2K1	5604	broad.mit.edu	37	15	66729129	66729129	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66729129A>C	ENST00000307102.5	+	3	868	c.337A>C	c.(337-339)Agg>Cgg	p.R113R		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1			20				Bosutinib(DB06616)|Trametinib(DB08911)	CCAGATCATAAGGGAGCTGCA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000307102.5	1	1	hg19	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539635	0.27563	.	.	ENSG00000169032	ENST00000425818	.	.	.	4.52	-3.33	0.04958	.	.	.	.	.	T	0.63965	0.2556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64453	-0.6404	4	.	.	.	-26.682	14.717	0.69277	0.2366:0.7634:0.0:0.0	.	.	.	.	T	52	.	.	K	+	2	0	MAP2K1	64516183	0.932000	0.31603	0.982000	0.44146	0.993000	0.82548	0.554000	0.23407	-0.367000	0.08052	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4	1	0	0	59	295	0	67	1	1	85	261	0	67	2		0	0	0	0	0	2	1	1	55	288	0	66	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL4	6124	broad.mit.edu	37	15	66791951	66791951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66791951C>T	ENST00000307961.6	-	10	1170	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	SNAPC5_ENST00000307979.7_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.A266T|SNAPC5_ENST00000563480.2_5'Flank|SNORD18B_ENST00000365659.1_RNA|SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000566658.1_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4			17					GCTTGTAGTGCCGCTGCTGCA	0.478000																								0							SO:0001583	missense			ENST00000307961.6	1	1	hg19	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154500	0.06544	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	2.03	2.03	0.26663	.	0.606515	0.15758	N	0.246053	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	9	0.18276	T	0.48	0.0827	4.5628	0.12168	0.0:0.6969:0.0:0.3031	.	360	P36578	RL4_HUMAN	T	360	.	ENSP00000311430:A360T	A	-	1	0	RPL4	64579005	0.024000	0.19004	0.023000	0.16930	0.045000	0.14185	1.306000	0.33505	1.048000	0.40298	0.313000	0.20887	GCA		TCGA-IB-7651-01A-11D-2154-08	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	1	0	0	19	284	0	44	1	1	684	7125	0	44	2		0	0	0	0	0	2	1	9.999899e-01	19	277	0	44	2								-19.997940	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.730000	0.460000	1.000000	1.000000	0.748743	0.730000	0	5.800000e-01	9.100000e-01
RPL4	6124	broad.mit.edu	37	15	66793365	66793365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66793365C>T	ENST00000307961.6	-	7	847	c.755G>A	c.(754-756)tGg>tAg	p.W252*	RPL4_ENST00000568588.1_Nonsense_Mutation_p.W158*|SNORD16_ENST00000362803.1_RNA|SNORD18A_ENST00000363753.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4			17					ACTTTCAGTCCAAATGCAGAA	0.403000																								0							SO:0001587	stop_gained			ENST00000307961.6	0	1	hg19	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	43	10.289014	0.99376	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9401	15.7932	0.78384	0.137:0.863:0.0:0.0	.	.	.	.	X	252	.	ENSP00000311430:W252X	W	-	2	0	RPL4	64580419	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.698000	0.84413	1.311000	0.45024	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	0	0	0	9	346	0	59	1	1	4	6586	0	59	2		0	0	0	0	0	2	1	9.941419e-01	9	343	0	60	2								-2.943443	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.300000	0.150000	0.530000	0.290000	0.323526	0.300000	0	2.100000e-01	4.200000e-01
RPL4	6124	broad.mit.edu	37	15	66794186	66794186	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66794186C>A	ENST00000307961.6	-	5	578	c.486G>T	c.(484-486)aaG>aaT	p.K162N	RPL4_ENST00000568588.1_Missense_Mutation_p.K68N|SNORD16_ENST00000362803.1_RNA|SNORD18A_ENST00000363753.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4			17					CCTTGGTCTTCTTGTAGCCTT	0.388000																								0							SO:0001583	missense			ENST00000307961.6	1	1	hg19	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725205	0.48833	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.1	5.1	0.69264	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.42744	1.35	0.80722	D	1	B;B	0.27351	0.017;0.176	B;B	0.32864	0.056;0.154	T	0.52396	-0.8581	9	0.32370	T	0.25	-19.9368	13.0628	0.59015	0.0:0.9239:0.0:0.0761	.	162;162	B4DFI6;P36578	.;RL4_HUMAN	N	162	.	ENSP00000311430:K162N	K	-	3	2	RPL4	64581240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.025000	0.49681	2.652000	0.90054	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	1	0	0	19	210	0	61	1	1	327	3665	0	61	2		0	0	0	0	0	2	1	9.999908e-01	19	205	0	61	2								-19.999990	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.970000	0.610000	1.000000	1.000000	0.911982	0.970000	1	7.700000e-01	1
ZWILCH	55055	broad.mit.edu	37	15	66807941	66807941	+	Silent	SNP	C	C	T	rs143266025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66807941C>T	ENST00000307897.5	+	4	659	c.279C>T	c.(277-279)ggC>ggT	p.G93G	RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000535141.2_5'UTR	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein			18					TCTCTACTGGCGAAAATGTTG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000307897.5	1	1	hg19	CCDS10219.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	1	0	1	35	191	0	48	1	9.986069e-01	19	39	0	48	2		0	0	0	0	0	2	1	1	35	182	0	48	2								-3.242776	1	1	121412	8	37	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
ZWILCH	55055	broad.mit.edu	37	15	66813472	66813472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66813472G>A	ENST00000307897.5	+	7	1056	c.676G>A	c.(676-678)Gct>Act	p.A226T	RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein			18					AACTGCGATCGCTTTGGATAT	0.463000																								0							SO:0001583	missense			ENST00000307897.5	1	1	hg19	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.529569	0.00951	2.27E-4	0.0	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.35236	1.32;1.32;1.32	5.63	1.56	0.23342	.	0.391190	0.29059	N	0.013277	T	0.05456	0.0144	N	0.00119	-2.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.02654	T	1	-7.5116	4.4607	0.11665	0.5438:0.0:0.2255:0.2307	.	226	Q9H900	ZWILC_HUMAN	T	226;112;112	ENSP00000311429:A226T;ENSP00000402217:A112T;ENSP00000437749:A112T	ENSP00000311429:A226T	A	+	1	0	ZWILCH	64600526	0.116000	0.22171	0.128000	0.21923	0.053000	0.15095	1.114000	0.31196	0.079000	0.16929	-0.269000	0.10298	GCT		TCGA-IB-7651-01A-11D-2154-08	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	0	0	0	30	1525	1	295	1	1.525080e-01	3	64	1	295	3		0	0	0	0	0	2	1	9.676669e-01	30	1503	1	293	18								-2.601059	1	1	121412	4	46	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.220000	0.150000	0.310000	0.230000	0.232488	0.220000	0	1.800000e-01	2.700000e-01
LCTL	197021	broad.mit.edu	37	15	66844115	66844115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66844115C>A	ENST00000341509.5	-	11	1540	c.1409G>T	c.(1408-1410)aGa>aTa	p.R470I	LCTL_ENST00000537670.1_Missense_Mutation_p.R297I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like			32					GAATCCATATCTATCTGAGTA	0.353000																								0							SO:0001583	missense			ENST00000341509.5	0	1	hg19	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622767	0.87460	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.50277	0.75;0.75	5.77	4.86	0.63082	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.041706	0.85682	D	0.000000	T	0.79358	0.4432	H	0.98612	4.28	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	D	0.86776	0.1976	10	0.87932	D	0	-21.9098	13.1925	0.59719	0.0:0.9231:0.0:0.0769	.	470	Q6UWM7	LCTL_HUMAN	I	297;470	ENSP00000445419:R297I;ENSP00000343490:R470I	ENSP00000343490:R470I	R	-	2	0	LCTL	64631169	1.000000	0.71417	0.786000	0.31890	0.980000	0.70556	5.469000	0.66749	1.439000	0.47511	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	0	0	0	15	721	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	9.998627e-01	16	714	0	140	2								-2.952706	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.240000	0.130000	0.380000	0.240000	0.252250	0.240000	0	1.800000e-01	3.100000e-01
LCTL	197021	broad.mit.edu	37	15	66857032	66857032	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66857032G>A	ENST00000341509.5	-	2	395	c.264C>T	c.(262-264)gaC>gaT	p.D88D	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	p.D88D(1)		32					TGTAGTAGCCGTCACAGGCTA	0.597000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000341509.5	1	1	hg19	CCDS10220.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	1	0	0	78	286	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	75	284	0	56	2								-20.000000	1	1	121412	18	42	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AAGAB	79719	broad.mit.edu	37	15	67524224	67524224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67524224C>T	ENST00000261880.5	-	5	567	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AAGAB_ENST00000561452.1_Missense_Mutation_p.E46K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	p.E155*(1)		9					CCTGTAGATTCTGGGAAGTCA	0.403000																								1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000261880.5	1	1	hg19	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306213	0.95629	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.55588	0.51;0.51	5.21	5.21	0.72293	.	0.093945	0.64402	D	0.000001	T	0.66819	0.2828	M	0.63843	1.955	0.80722	D	1	D	0.58268	0.982	P	0.56398	0.797	T	0.69639	-0.5091	10	0.72032	D	0.01	-20.1834	18.9506	0.92640	0.0:1.0:0.0:0.0	.	155	Q6PD74	AAGAB_HUMAN	K	155;46	ENSP00000261880:E155K;ENSP00000440735:E46K	ENSP00000261880:E155K	E	-	1	0	AAGAB	65311278	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.225000	0.78051	2.699000	0.92147	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	1	0	1	151	680	0	204	1	1	72	156	0	204	2		0	0	0	0	0	2	1	1	147	656	0	203	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQCH	64799	broad.mit.edu	37	15	67665742	67665742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67665742G>T	ENST00000335894.4	+	10	1409	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H			33					AGGACCTCCAGGAGGACTATT	0.428000																								0							SO:0001583	missense			ENST00000335894.4	1	1	hg19	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977290	0.53720	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.50277	0.76;0.8;0.75;0.79	5.95	5.04	0.67666	.	0.091195	0.85682	D	0.000000	T	0.69333	0.3099	M	0.78637	2.42	0.29267	N	0.870963	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.961;0.977;0.982;0.997	T	0.69914	-0.5016	10	0.62326	D	0.03	0.0092	15.0812	0.72117	0.0677:0.0:0.9323:0.0	.	196;200;448;275	Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;IQCH_HUMAN;.	M	275;196;448;200	ENSP00000351617:R275M;ENSP00000444118:R196M;ENSP00000336861:R448M;ENSP00000353419:R200M	ENSP00000336861:R448M	R	+	2	0	IQCH	65452796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.251000	0.58778	1.520000	0.48965	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	1	0	1	73	318	0	62	1	3.160715e-01	3	3	0	62	2		0	0	0	0	0	2	1	1	72	314	0	62	2								-3.279773	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQCH	64799	broad.mit.edu	37	15	67768123	67768123	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH_ENST00000360277.4_Silent_p.I583I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H			33					TTCTCCAGATCTGTAGGGCCC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000335894.4	1	1	hg19	CCDS32273.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	1	0	1	71	251	0	51	1	3.987007e-01	2	4	0	51	2		0	0	0	0	0	2	1	1	69	248	0	51	2								-20.000000	1	1	121412	1	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIAS1	8554	broad.mit.edu	37	15	68479934	68479934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479934G>T	ENST00000249636.6	+	14	1865	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	PIAS1_ENST00000545237.1_Missense_Mutation_p.D575Y	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1			24					AGATGATCAAGACCTCCTACA	0.463000																								0							SO:0001583	missense			ENST00000249636.6	1	1	hg19	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831959	0.91036	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.36878	1.24;1.23	5.85	5.85	0.93711	.	0.134217	0.64402	D	0.000002	T	0.40372	0.1114	L	0.53249	1.67	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.19484	-1.0304	10	0.87932	D	0	-7.6537	20.1731	0.98165	0.0:0.0:1.0:0.0	.	573	O75925	PIAS1_HUMAN	Y	573;575	ENSP00000249636:D573Y;ENSP00000438574:D575Y	ENSP00000249636:D573Y	D	+	1	0	PIAS1	66266988	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	9.122000	0.94380	2.768000	0.95171	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2	1	0	1	70	338	0	63	1	1	87	195	0	63	2		0	0	0	0	0	2	1	1	70	336	0	63	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIAS1	8554	broad.mit.edu	37	15	68479978	68479978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479978G>A	ENST00000249636.6	+	14	1909	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q	PIAS1_ENST00000545237.1_Silent_p.Q589Q	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1			24					CCTCCTCACAGATGTTTCTTG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000249636.6	1	1	hg19	CCDS45290.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2	1	0	1	63	275	0	54	1	1	75	127	0	54	2		0	0	0	0	0	2	1	1	63	272	0	54	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLN6	54982	broad.mit.edu	37	15	68500636	68500636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500636G>T	ENST00000249806.5	-	7	935	c.778C>A	c.(778-780)Ctc>Atc	p.L260I	CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000448060.2_5'Flank|CLN6_ENST00000418702.2_Missense_Mutation_p.L131I|CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000395465.3_5'Flank	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant			7					AAGAGGAAGAGGCCGTTGCTG	0.592000																								0							SO:0001583	missense			ENST00000249806.5	0	1	hg19	CCDS10227.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428218	0.83667	.	.	ENSG00000128973	ENST00000249806;ENST00000418702;ENST00000538696	D;D;D	0.95103	-3.61;-3.61;-3.61	5.24	4.32	0.51571	.	0.074290	0.56097	D	0.000039	D	0.95345	0.8489	M	0.61703	1.905	0.44149	D	0.996948	D;P;D	0.59767	0.986;0.767;0.961	P;B;P	0.56278	0.795;0.439;0.616	D	0.94807	0.7975	10	0.51188	T	0.08	-32.0251	13.6395	0.62241	0.0752:0.0:0.9248:0.0	.	292;131;260	B4DDH6;E7ESV1;Q9NWW5	.;.;CLN6_HUMAN	I	260;131;292	ENSP00000249806:L260I;ENSP00000393826:L131I;ENSP00000445770:L292I	ENSP00000249806:L260I	L	-	1	0	CLN6	66287690	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.041000	0.70988	1.204000	0.43247	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	0	0	0	13	655	0	105	1	7.153034e-01	3	123	0	105	2		0	0	0	0	0	2	1	9.994499e-01	13	638	0	104	2								-3.346331	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.230000	0.120000	0.370000	0.230000	0.242951	0.230000	0	1.700000e-01	3.000000e-01
CLN6	54982	broad.mit.edu	37	15	68500697	68500697	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500697G>A	ENST00000249806.5	-	7	874	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000538696.1_Silent_p.F271F|CLN6_ENST00000565471.1_Silent_p.F86F|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000448060.2_5'Flank|CLN6_ENST00000418702.2_Silent_p.F110F|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000564752.1_3'UTR|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000395465.3_5'Flank	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant			7					CCAGCATGGCGAAGAAGGTGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000249806.5	1	1	hg19	CCDS10227.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	1	0	0	58	313	0	89	1	9.999998e-01	26	98	0	89	2		0	0	0	0	0	2	1	1	57	311	0	87	2								-20.000000	1	0	121412	3	35	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CORO2B	10391	broad.mit.edu	37	15	68937536	68937536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68937536G>A	ENST00000566799.1	+	2	82	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	CORO2B_ENST00000543950.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	p.R18Q(1)		36					TCCAAGTTCCGGAATGTCTAC	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000566799.1	1	1	hg19	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	34	5.338139	0.95758	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.71817	-0.6;-0.6	4.38	4.38	0.52667	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.91793	0.5445	10	0.87932	D	0	-17.718	15.8812	0.79207	0.0:0.0:1.0:0.0	.	18	Q9UQ03	COR2B_HUMAN	Q	18;13;13	ENSP00000446250:R13Q;ENSP00000443819:R13Q	ENSP00000261861:R18Q	R	+	2	0	CORO2B	66724590	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.540000	0.98080	2.142000	0.66516	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	43	171	0	41	0	4.224270e-02	0	2	0	41	2		0	0	0	0	0	2	1	1	42	168	0	40	2								-3.144805	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CORO2B	10391	broad.mit.edu	37	15	69006382	69006382	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69006382T>C	ENST00000566799.1	+	6	794		c.e6+2		CORO2B_ENST00000543950.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site|CORO2B_ENST00000540068.1_Splice_Site			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B			36					TGGGACCAGGTCAGCCACGGG	0.607000																								0							SO:0001630	splice_region_variant			ENST00000566799.1	1	1	hg19	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601805	0.87055	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3006	0.60324	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CORO2B	66793436	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.899000	0.87370	2.018000	0.59344	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	8	201	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	9.889376e-01	8	197	0	44	2								-10.392900	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.460000	0.220000	0.810000	0.430000	0.487442	0.460000	0	3.200000e-01	6.400000e-01
SPESP1	246777	broad.mit.edu	37	15	69238882	69238882	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69238882A>G	ENST00000310673.3	+	2	1163	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1			19					ATTAAAAAATATGTGTAGATC	0.269000																								0							SO:0001583	missense			ENST00000310673.3	1	1	hg19	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	0.149	-1.093309	0.01858	.	.	ENSG00000258484	ENST00000310673	T	0.18810	2.19	4.94	1.23	0.21249	.	1.099980	0.07012	N	0.825205	T	0.09992	0.0245	N	0.14661	0.345	0.80722	D	1	B	0.32573	0.376	B	0.27887	0.084	T	0.33085	-0.9882	10	0.29301	T	0.29	-0.7718	2.6801	0.05091	0.5967:0.0:0.2104:0.1929	.	337	Q6UW49	SPESP_HUMAN	V	337	ENSP00000312284:M337V	ENSP00000312284:M337V	M	+	1	0	SPESP1	67025936	1.000000	0.71417	0.987000	0.45799	0.089000	0.18198	1.328000	0.33758	0.851000	0.35264	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	1	0	1	64	231	0	58	0	4.814707e-02	0	2	0	58	2		0	0	0	0	0	2	1	1	61	228	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOX5	79400	broad.mit.edu	37	15	69323949	69323949	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69323949C>A	ENST00000388866.3	+	4	458	c.417C>A	c.(415-417)ggC>ggA	p.G139G	NOX5_ENST00000260364.5_Silent_p.G121G|NOX5_ENST00000448182.3_Silent_p.G93G|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000530406.2_Silent_p.G111G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5			35					CAGGCAGTGGCTCCATTGACC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000388866.3	1	1	hg19	CCDS32276.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	1	0	1	37	164	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	37	162	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NOX5	79400	broad.mit.edu	37	15	69324134	69324134	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69324134T>C	ENST00000388866.3	+	4	643	c.602T>C	c.(601-603)aTg>aCg	p.M201T	NOX5_ENST00000260364.5_Missense_Mutation_p.M183T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000530406.2_Missense_Mutation_p.M173T	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5			35					CCCGGAGTCATGGAGAACCTG	0.662000																								0							SO:0001583	missense			ENST00000388866.3	1	1	hg19	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234200	0.58886	2.27E-4	0.0	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.66995	-0.24;1.6;-0.24	3.33	0.912	0.19349	EF-hand-like domain (1);	0.161027	0.52532	U	0.000077	T	0.49423	0.1556	L	0.41961	1.31	0.41937	D	0.990592	B;B;B	0.20550	0.046;0.022;0.019	B;B;B	0.14578	0.011;0.004;0.011	T	0.23226	-1.0194	10	0.13470	T	0.59	.	6.9543	0.24562	0.0:0.1942:0.0:0.8058	.	166;201;173	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	T	166;183;201;173	ENSP00000416828:M166T;ENSP00000373518:M201T;ENSP00000432440:M173T	ENSP00000373518:M201T	M	+	2	0	NOX5	67111188	1.000000	0.71417	0.962000	0.40283	0.849000	0.48306	3.638000	0.54332	-0.118000	0.11851	-0.628000	0.03992	ATG		TCGA-IB-7651-01A-11D-2154-08	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	1	0	1	20	93	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999976e-01	20	93	0	17	2								-20.000000	1	1	121328	1	22	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999838	0.990000	1	9.900000e-01	1
NOX5	79400	broad.mit.edu	37	15	69325509	69325509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69325509C>T	ENST00000388866.3	+	5	788	c.747C>T	c.(745-747)caC>caT	p.H249H	NOX5_ENST00000260364.5_Silent_p.H231H|NOX5_ENST00000448182.3_Silent_p.H203H|NOX5_ENST00000455873.3_Silent_p.H214H|NOX5_ENST00000530406.2_Silent_p.H221H	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5			35					CAGGCCTCCACGTGCTGCTCT	0.731000																								0							SO:0001819	synonymous_variant			ENST00000388866.3	0	1	hg19	CCDS32276.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	1	0	0	21	46	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.999989e-01	20	43	0	8	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NOX5	79400	broad.mit.edu	37	15	69348991	69348991	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69348991C>T	ENST00000388866.3	+	16	2294	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	NOX5_ENST00000260364.5_Silent_p.G733G|NOX5_ENST00000448182.3_Silent_p.G705G|NOX5_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000530406.2_Silent_p.G723G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5			35					TGCTGAAGGGCCATTGTGAGA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000388866.3	1	1	hg19	CCDS32276.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	1	0	1	68	240	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	68	238	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF23	9493	broad.mit.edu	37	15	69718750	69718750	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69718750A>C	ENST00000260363.4	+	9	1040	c.923A>C	c.(922-924)aAa>aCa	p.K308T	KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000559279.1_Missense_Mutation_p.K308T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23			21					TTCAACATTAAATTAGTTCAG	0.403000																								0							SO:0001583	missense			ENST00000260363.4	1	1	hg19	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004930	0.74932	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.53	4.4	0.53042	Kinesin, motor domain (5);	0.044773	0.85682	D	0.000000	T	0.70692	0.3253	N	0.12831	0.26	0.58432	D	0.999999	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.83275	0.948;0.996;0.989	T	0.65038	-0.6265	10	0.13853	T	0.58	.	10.8694	0.46875	0.9254:0.0:0.0746:0.0	.	125;308;308	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	308;308;308;125	ENSP00000260363:K308T;ENSP00000304978:K308T;ENSP00000378790:K308T;ENSP00000442969:K125T	ENSP00000260363:K308T	K	+	2	0	KIF23	67505804	1.000000	0.71417	0.787000	0.31911	0.964000	0.63967	6.190000	0.72057	0.910000	0.36722	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	239	931	0	212	1	9.791335e-01	13	13	0	212	2		0	0	0	0	0	2	1	1	236	906	0	211	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF23	9493	broad.mit.edu	37	15	69730728	69730728	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69730728A>C	ENST00000260363.4	+	15	1814	c.1697A>C	c.(1696-1698)aAa>aCa	p.K566T	KIF23_ENST00000352331.4_Missense_Mutation_p.K566T|KIF23_ENST00000395392.2_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000559279.1_Missense_Mutation_p.K566T|KIF23_ENST00000537891.1_Missense_Mutation_p.K383T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23			21					AAGAAAAACAAAACTTTAGAA	0.353000																								0							SO:0001583	missense			ENST00000260363.4	1	1	hg19	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282333	0.80692	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.55	4.43	0.53597	.	0.087928	0.85682	D	0.000000	T	0.66694	0.2815	L	0.38175	1.15	0.58432	D	0.999995	P;D;D	0.71674	0.945;0.998;0.986	P;D;P	0.70487	0.493;0.969;0.835	T	0.62374	-0.6868	10	0.29301	T	0.29	.	10.2854	0.43564	0.9233:0.0:0.0767:0.0	.	383;566;566	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	T	566;566;566;383	ENSP00000260363:K566T;ENSP00000304978:K566T;ENSP00000378790:K566T;ENSP00000442969:K383T	ENSP00000260363:K566T	K	+	2	0	KIF23	67517782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.841000	0.75374	0.950000	0.37743	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	10	252	0	62	1	3.385577e-01	2	27	0	62	2		0	0	0	0	0	2	1	9.967328e-01	10	247	0	62	2								-12.268640	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.450000	0.230000	0.760000	0.430000	0.478727	0.450000	0	3.300000e-01	6.100000e-01
TLE3	7090	broad.mit.edu	37	15	70358362	70358362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70358362C>T	ENST00000558939.1	-	7	1945	c.568G>A	c.(568-570)Gat>Aat	p.D190N	TLE3_ENST00000317509.8_Missense_Mutation_p.D190N|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3			31					CCTCTGTGATCGAGTTCATGG	0.672000																								0							SO:0001583	missense			ENST00000558939.1	1	1	hg19	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094663	0.56075	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.52526	0.84;0.92;0.98;0.91;0.66	5.56	5.56	0.83823	.	0.112013	0.64402	D	0.000012	T	0.47488	0.1448	L	0.52573	1.65	0.53005	D	0.999965	B;B;B;P;P;P;P;P	0.38195	0.024;0.149;0.028;0.488;0.605;0.488;0.622;0.6	B;B;B;B;B;B;B;B	0.38296	0.011;0.025;0.027;0.088;0.087;0.088;0.27;0.181	T	0.41378	-0.9512	10	0.37606	T	0.19	-21.5296	19.131	0.93406	0.0:1.0:0.0:0.0	.	183;190;190;190;190;190;195;134	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	N	190;190;190;183;134	ENSP00000390007:D190N;ENSP00000394717:D190N;ENSP00000319233:D190N;ENSP00000415057:D183N;ENSP00000442594:D134N	ENSP00000319233:D190N	D	-	1	0	TLE3	68145416	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	5.861000	0.69553	2.609000	0.88269	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	1	0	0	35	201	0	40	1	9.998633e-01	14	67	0	40	2		0	0	0	0	0	2	1	1	32	196	0	40	2								-3.329179	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999952	0.990000	1	9.900000e-01	1
UACA	55075	broad.mit.edu	37	15	70969475	70969475	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70969475A>C	ENST00000322954.6	-	12	1189	c.1004T>G	c.(1003-1005)gTt>gGt	p.V335G	UACA_ENST00000560441.1_Missense_Mutation_p.V322G|UACA_ENST00000379983.2_Missense_Mutation_p.V322G|UACA_ENST00000539319.1_Missense_Mutation_p.V226G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats			50					AGCAACCATAACTTCCTAAAT	0.274000																								0							SO:0001583	missense			ENST00000322954.6	1	1	hg19	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477796	0.63849	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34667	1.35;1.37;1.8	5.4	4.21	0.49690	.	0.591373	0.15170	N	0.276723	T	0.44222	0.1283	L	0.51422	1.61	0.44677	D	0.997667	D;D;D	0.57899	0.967;0.968;0.981	P;P;P	0.57324	0.604;0.587;0.818	T	0.10917	-1.0609	10	0.23302	T	0.38	-18.2105	9.5199	0.39129	0.7722:0.0:0.0:0.2278	.	226;335;322	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	G	335;322;226	ENSP00000314556:V335G;ENSP00000369319:V322G;ENSP00000438667:V226G	ENSP00000314556:V335G	V	-	2	0	UACA	68756529	0.988000	0.35896	0.972000	0.41901	0.984000	0.73092	2.588000	0.46137	2.175000	0.68902	0.477000	0.44152	GTT		TCGA-IB-7651-01A-11D-2154-08	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2	1	0	1	50	212	0	78	1	1	9	139	0	78	2		0	0	0	0	0	2	1	1	49	206	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UACA	55075	broad.mit.edu	37	15	70970491	70970491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970491C>A	ENST00000322954.6	-	11	1131	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*|UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats			50					ATTCTTTGTTCTTGCTGAATT	0.308000																								0							SO:0001587	stop_gained			ENST00000322954.6	0	1	hg19	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	40	8.384269	0.98786	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-31.0907	17.5243	0.87795	0.0:1.0:0.0:0.0	.	.	.	.	X	316;303;303;207	.	ENSP00000314556:E316X	E	-	1	0	UACA	68757545	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.560000	0.73950	2.658000	0.90341	0.585000	0.79938	GAA		TCGA-IB-7651-01A-11D-2154-08	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2	1	0	0	15	202	0	83	0	9.900419e-01	0	105	0	83	2		0	0	0	0	0	2	1	9.998770e-01	15	199	0	83	2								-5.838772	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.810000	0.480000	1.000000	1.000000	0.809875	0.810000	0	6.300000e-01	1
UACA	55075	broad.mit.edu	37	15	70970515	70970515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970515C>T	ENST00000322954.6	-	11	1107	c.922G>A	c.(922-924)Gag>Aag	p.E308K	UACA_ENST00000560441.1_Missense_Mutation_p.E295K|UACA_ENST00000379983.2_Missense_Mutation_p.E295K|UACA_ENST00000539319.1_Missense_Mutation_p.E199K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats			50					CTCAACCTCTCTTTCAAATCT	0.303000																								0							SO:0001583	missense			ENST00000322954.6	1	1	hg19	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691807	0.88735	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.38240	1.15;1.16;1.73	5.31	5.31	0.75309	.	0.270250	0.31922	N	0.006854	T	0.45094	0.1325	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.41929	0.765;0.653;0.653;0.73	P;B;B;B	0.44359	0.447;0.26;0.26;0.281	T	0.45906	-0.9229	10	0.62326	D	0.03	-17.5848	17.5243	0.87795	0.0:1.0:0.0:0.0	.	199;308;308;295	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	308;295;295;199	ENSP00000314556:E308K;ENSP00000369319:E295K;ENSP00000438667:E199K	ENSP00000314556:E308K	E	-	1	0	UACA	68757569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.912000	0.63335	2.658000	0.90341	0.585000	0.79938	GAG		TCGA-IB-7651-01A-11D-2154-08	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2	1	0	1	30	156	0	66	1	9.999999e-01	26	118	0	66	2		0	0	0	0	0	2	1	1	30	153	0	66	2								-3.365197	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
THAP10	56906	broad.mit.edu	37	15	71174954	71174954	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71174954G>A	ENST00000249861.4	-	3	1125	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	p.L205M(1)		12					GCATTACACAGTCTTTTTCCA	0.363000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000249861.4	1	1	hg19	CCDS10237.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	1	0	1	80	284	0	83	1	8.133849e-01	2	11	0	83	2		0	0	0	0	0	2	1	1	80	279	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49			34					AAGACACATCGTCATTCCCCG	0.323000																								0							SO:0001819	synonymous_variant			ENST00000260382.5	1	1	hg19	CCDS32282.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	1	0	1	56	207	0	42	1	9.428596e-01	4	16	0	42	2		0	0	0	0	0	2	1	1	56	202	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC49	54839	broad.mit.edu	37	15	71276472	71276472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71276472T>C	ENST00000260382.5	+	11	1305	c.1045T>C	c.(1045-1047)Tgg>Cgg	p.W349R	LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49			34					AGCTCGACAGTGGGACTTGCA	0.378000																								0							SO:0001583	missense			ENST00000260382.5	1	1	hg19	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.218337	0.39201	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.22743	1.94;1.94;1.94	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.68952	2.095	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	T	0.28618	-1.0038	10	0.51188	T	0.08	-0.4011	11.7414	0.51794	0.0:0.0:0.0:1.0	.	354;321;305;349;339	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	339;349;305;321	ENSP00000439600:W339R;ENSP00000260382:W349R;ENSP00000414065:W305R	ENSP00000260382:W349R	W	+	1	0	LRRC49	69063526	0.998000	0.40836	1.000000	0.80357	0.143000	0.21401	4.186000	0.58337	1.939000	0.56221	0.383000	0.25322	TGG		TCGA-IB-7651-01A-11D-2154-08	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	1	0	1	47	186	0	52	1	9.485974e-01	6	16	0	52	2		0	0	0	0	0	2	1	1	46	184	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THSD4	79875	broad.mit.edu	37	15	72039244	72039244	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72039244C>T	ENST00000355327.3	+	13	2238	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000261862.6_Silent_p.L702L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4			42					CCGCCAGGTTCTGTGCCGCCA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000355327.3	1	1	hg19	CCDS10238.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	1	0	1	65	235	0	43	0	9.948973e-01	1	31	0	43	2		0	0	0	0	0	2	1	1	63	230	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR2E3	10002	broad.mit.edu	37	15	72103910	72103910	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72103910G>A	ENST00000398840.2	+	0	396							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3			3					GGCTGCAGCGGCTTCTTCAAG	0.672000																								0											ENST00000398840.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.99	1.802620	0.31869	.	.	ENSG00000031544	ENST00000398840	.	.	.	4.13	4.13	0.48395	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.110700	0.64402	D	0.000011	D	0.85588	0.5731	H	0.95004	3.61	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.91333	0.5091	8	0.87932	D	0	.	12.98	0.58557	0.0:0.164:0.836:0.0	.	69	Q9Y5X4	NR2E3_HUMAN	D	69	.	ENSP00000381820:G69D	G	+	2	0	NR2E3	69890964	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	5.543000	0.67225	1.828000	0.53243	0.484000	0.47621	GGC		TCGA-IB-7651-01A-11D-2154-08	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	10	65	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.967346e-01	10	61	0	10	2								-17.734620	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.790000	1.000000	1.000000	0.986517	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72119059	72119059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119059C>A	ENST00000356056.5	-	42	7981	c.7509G>T	c.(7507-7509)aaG>aaT	p.K2503N	MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					TTTTCACATTCTTTAATTTTT	0.488000																								0							SO:0001583	missense			ENST00000356056.5	1	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276009	0.59649	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.87571	-2.27;-2.27;-2.26	5.2	4.28	0.50868	.	.	.	.	.	D	0.86264	0.5891	L	0.32530	0.975	0.40054	D	0.975819	D;D	0.63046	0.986;0.992	P;P	0.55923	0.738;0.787	D	0.86612	0.1873	9	0.62326	D	0.03	.	10.2152	0.43164	0.0:0.8455:0.0:0.1544	.	2503;2267	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	N	2503;2574;2484	ENSP00000348349:K2503N;ENSP00000399162:K2574N;ENSP00000398250:K2484N	ENSP00000348349:K2503N	K	-	3	2	MYO9A	69906113	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.348000	0.33987	1.164000	0.42652	0.563000	0.77884	AAG		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	0	1	140	701	0	136	1	8.852600e-01	3	18	0	136	2		0	0	0	0	0	2	1	1	137	690	0	133	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72119296	72119296	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119296G>A	ENST00000356056.5	-	42	7744	c.7272C>T	c.(7270-7272)gaC>gaT	p.D2424D	MYO9A_ENST00000444904.1_Silent_p.D2405D|MYO9A_ENST00000424560.1_Silent_p.D2495D|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					CATCTAAAGAGTCTTGCTGCT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000356056.5	1	1	hg19	CCDS10239.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	56	269	0	59	1	6.841309e-01	3	10	0	59	2		0	0	0	0	0	2	1	1	56	265	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72122595	72122595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72122595G>A	ENST00000356056.5	-	40	7367	c.6895C>T	c.(6895-6897)Cgg>Tgg	p.R2299W	MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					GAAGGCAACCGAACTACAACA	0.488000																								0							SO:0001583	missense			ENST00000356056.5	0	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587506	0.66105	2.27E-4	1.16E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85556	-1.99;-2.0;-1.98	4.73	3.79	0.43588	.	.	.	.	.	D	0.84763	0.5544	L	0.60455	1.87	0.09310	N	0.999996	D;D	0.67145	0.996;0.994	B;P	0.46049	0.425;0.502	T	0.77194	-0.2677	9	0.66056	D	0.02	.	13.8244	0.63342	0.0:0.2922:0.7078:0.0	.	2299;2063	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	W	2299;2370;2280	ENSP00000348349:R2299W;ENSP00000399162:R2370W;ENSP00000398250:R2280W	ENSP00000348349:R2299W	R	-	1	2	MYO9A	69909649	0.995000	0.38212	0.088000	0.20740	0.981000	0.71138	4.128000	0.57951	1.324000	0.45282	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	0	0	9	489	0	96	0	1.306237e-01	0	30	0	96	2		0	0	0	0	0	2	1	9.939762e-01	9	483	0	95	2								-2.794094	1	1	121410	18	44	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.210000	0.100000	0.380000	0.210000	0.231942	0.210000	0	1.500000e-01	3.000000e-01
MYO9A	4649	broad.mit.edu	37	15	72146772	72146772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146772G>A	ENST00000356056.5	-	35	6764	c.6292C>T	c.(6292-6294)Cga>Tga	p.R2098*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2098*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					CCAGACTTTCGATAAATACCT	0.373000																								0							SO:0001587	stop_gained			ENST00000356056.5	0	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	42	9.510016	0.99190	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2853	0.66243	0.0:0.0:0.7534:0.2466	.	.	.	.	X	2098;2169;2079	.	ENSP00000348349:R2098X	R	-	1	2	MYO9A	69933826	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.124000	0.42006	2.843000	0.97960	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	0	145	639	0	136	1	9.309024e-01	4	18	0	136	2		0	0	0	0	0	2	1	1	142	632	0	137	2								-3.390536	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72146819	72146819	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146819A>T	ENST00000356056.5	-	35	6717	c.6245T>A	c.(6244-6246)cTc>cAc	p.L2082H	MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H|MYO9A_ENST00000564571.1_Missense_Mutation_p.L2082H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					GTAGTTTATGAGCTTTTCCAC	0.408000																								0							SO:0001583	missense			ENST00000356056.5	1	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.993873	0.93167	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.21543	2.0;2.0;2.0	5.99	5.99	0.97316	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.53997	0.1831	M	0.91818	3.245	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.65212	-0.6223	9	0.87932	D	0	.	16.4719	0.84113	1.0:0.0:0.0:0.0	.	2082	B2RTY4	MYO9A_HUMAN	H	2082;2153;2063	ENSP00000348349:L2082H;ENSP00000399162:L2153H;ENSP00000398250:L2063H	ENSP00000348349:L2082H	L	-	2	0	MYO9A	69933873	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.307000	0.96226	2.292000	0.77174	0.482000	0.46254	CTC		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	116	498	0	107	1	9.463506e-01	2	21	0	107	2		0	0	0	0	0	2	1	1	114	492	0	107	2								-20.000000	1	0	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72176078	72176078	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72176078C>T	ENST00000356056.5	-	28	5728		c.e28-1		MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					TCTCTGAGGTCTGTTTAAAGA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000356056.5	1	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859482	0.71834	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0021	0.86384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO9A	69963132	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	6.736000	0.74811	2.061000	0.61500	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	52	238	0	54	0	0	1	0	0	54	2		0	0	0	0	0	2	1	1	49	236	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72191130	72191130	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72191130G>A	ENST00000356056.5	-	25	4186	c.3714C>T	c.(3712-3714)gcC>gcT	p.A1238A	MYO9A_ENST00000444904.1_Silent_p.A1219A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.A1238A|MYO9A_ENST00000564571.1_Silent_p.A1238A|MYO9A_ENST00000566885.1_Silent_p.A858A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					TCTGGCTTTGGGCTCTCTCCT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000356056.5	1	1	hg19	CCDS10239.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	157	712	0	155	1	9.606799e-01	3	23	0	155	2		0	0	0	0	0	2	1	1	154	697	0	153	2								-3.178769	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72192062	72192062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72192062G>A	ENST00000356056.5	-	24	3908	c.3436C>T	c.(3436-3438)Caa>Taa	p.Q1146*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					CATGTTGATTGCAAAAGGATA	0.368000																								0							SO:0001587	stop_gained			ENST00000356056.5	0	1	hg19	CCDS10239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.782160|12.782160	0.99696|0.99696	.|.	.|.	ENSG00000066933|ENSG00000066933	ENST00000261864|ENST00000356056;ENST00000424560;ENST00000444904	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	T|.	0.81814|.	0.4902|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82153|.	-0.0598|.	4|.	0.10636|0.56958	T|D	0.68|0.05	.|.	20.0401|20.0401	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	1126|1146;1146;1127	.|.	ENSP00000261864:A1126V|ENSP00000348349:Q1146X	A|Q	-|-	2|1	0|0	MYO9A|MYO9A	69979116|69979116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	8.263000|8.263000	0.89864|0.89864	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCA|CAA		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	71	301	0	63	0	7.773214e-01	1	13	0	63	2		0	0	0	0	0	2	1	1	71	296	0	63	2								-3.504657	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72208782	72208782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72208782C>T	ENST00000356056.5	-	19	3086	c.2614G>A	c.(2614-2616)Gat>Aat	p.D872N	MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N|MYO9A_ENST00000564571.1_Missense_Mutation_p.D872N|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					GTAATGCGATCTTGTAGTGTC	0.338000																								0							SO:0001583	missense			ENST00000356056.5	1	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408315	0.96051	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71698	-0.59;-0.59;-0.59	5.24	5.24	0.73138	Myosin head, motor domain (1);	.	.	.	.	T	0.77157	0.4089	L	0.35414	1.06	0.80722	D	1	D;D;P	0.89917	1.0;0.957;0.943	D;P;P	0.91635	0.999;0.781;0.896	T	0.73736	-0.3889	9	0.30078	T	0.28	.	17.7426	0.88411	0.0:1.0:0.0:0.0	.	853;853;872	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	N	872;872;853;853	ENSP00000348349:D872N;ENSP00000399162:D872N;ENSP00000398250:D853N	ENSP00000261864:D853N	D	-	1	0	MYO9A	69995836	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.240000	0.78192	2.709000	0.92574	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	67	238	0	60	1	7.321279e-01	2	9	0	60	2		0	0	0	0	0	2	1	1	64	232	0	59	2								-4.055864	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72286859	72286859	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72286859C>T	ENST00000356056.5	-	10	2010	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					ATGATTAATTCGAAAAACTAT	0.338000																								0							SO:0001583	missense			ENST00000356056.5	1	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974210	0.92919	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88431	-2.38;-2.38;-2.38	5.14	5.14	0.70334	Myosin head, motor domain (2);	.	.	.	.	D	0.90721	0.7088	L	0.33792	1.035	0.80722	D	1	D;P;D;P	0.71674	0.998;0.867;0.961;0.886	D;B;P;P	0.70716	0.97;0.23;0.688;0.564	D	0.88017	0.2766	9	0.19147	T	0.46	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	494;513;494;513	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	Q	513;513;494;494;513	ENSP00000348349:R513Q;ENSP00000399162:R513Q;ENSP00000398250:R494Q	ENSP00000261864:R494Q	R	-	2	0	MYO9A	70073913	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.275000	0.78548	2.385000	0.81259	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	106	447	0	107	1	9.404101e-01	4	18	0	107	2		0	0	0	0	0	2	1	1	102	440	0	105	2								-20.000000	1	1	121412	2	34	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO9A	4649	broad.mit.edu	37	15	72338363	72338363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72338363C>A	ENST00000356056.5	-	2	1014	c.542G>T	c.(541-543)aGt>aTt	p.S181I	MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.S181I|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					TATTAGAATACTGCCAACATA	0.323000																								0							SO:0001583	missense			ENST00000356056.5	1	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	18.62	3.662272	0.67700	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87179	-2.22;-2.22;-2.22	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.90696	0.7081	L	0.43598	1.365	0.58432	D	0.999995	P;D;D	0.63046	0.948;0.975;0.992	P;P;D	0.70487	0.759;0.861;0.969	D	0.91177	0.4973	9	0.87932	D	0	.	15.587	0.76491	0.0:0.863:0.137:0.0	.	181;181;181	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	181	ENSP00000348349:S181I;ENSP00000399162:S181I;ENSP00000398250:S181I	ENSP00000261864:S181I	S	-	2	0	MYO9A	70125417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.832000	0.55783	2.749000	0.94314	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	78	294	0	66	1	6.537590e-01	4	6	0	66	2		0	0	0	0	0	2	1	1	76	291	0	66	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP8	123228	broad.mit.edu	37	15	72432323	72432323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432323C>T	ENST00000542035.2	+	2	692	c.359C>T	c.(358-360)tCc>tTc	p.S120F	RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8			6					CATTATGATTCCCATAGCAGG	0.433000																								0							SO:0001583	missense			ENST00000542035.2	1	1	hg19	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892924	0.91889	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92186	0.5755	10	0.87932	D	0	-17.7189	19.8681	0.96839	0.0:1.0:0.0:0.0	.	120	Q96LD8	SENP8_HUMAN	F	120	ENSP00000446057:S120F;ENSP00000441753:S120F;ENSP00000340505:S120F;ENSP00000439415:S120F	ENSP00000340505:S120F	S	+	2	0	SENP8	70219377	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.684000	0.84104	2.764000	0.94973	0.643000	0.83706	TCC		TCGA-IB-7651-01A-11D-2154-08	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	1	0	1	68	312	0	78	1	6.137880e-01	8	3	0	78	2		0	0	0	0	0	2	1	1	67	305	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP8	123228	broad.mit.edu	37	15	72432577	72432577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432577C>A	ENST00000542035.2	+	2	946	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8			6					ATGGAAAGATCTCATTACCAC	0.448000																								0							SO:0001583	missense			ENST00000542035.2	1	1	hg19	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056735	0.36277	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.84	0.62591	.	0.069030	0.64402	D	0.000014	T	0.48786	0.1519	L	0.48877	1.53	0.80722	D	1	B	0.28026	0.198	B	0.41917	0.37	T	0.34428	-0.9829	10	0.20519	T	0.43	-13.4616	13.5248	0.61589	0.0:0.9264:0.0:0.0736	.	205	Q96LD8	SENP8_HUMAN	I	205	ENSP00000446057:L205I;ENSP00000441753:L205I;ENSP00000340505:L205I;ENSP00000439415:L205I	ENSP00000340505:L205I	L	+	1	0	SENP8	70219631	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	3.575000	0.53870	2.730000	0.93505	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	1	0	1	30	218	0	43	1	4.458422e-01	4	8	0	43	2		0	0	0	0	0	2	1	1	30	215	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.980000	1.000000	1.000000	0.997983	0.990000	1	9.900000e-01	1
GRAMD2	196996	broad.mit.edu	37	15	72455661	72455661	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72455661C>T	ENST00000309731.7	-	10	915	c.902G>A	c.(901-903)aGc>aAc	p.S301N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2			13					CTCCCCAGTGCTCCTGGGCTC	0.577000																								0							SO:0001583	missense			ENST00000309731.7	1	1	hg19	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637417	0.14386	.	.	ENSG00000175318	ENST00000309731	T	0.32272	1.46	5.46	2.45	0.29901	.	0.839871	0.11079	N	0.602061	T	0.25082	0.0609	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30001	-0.9993	10	0.20519	T	0.43	.	8.5009	0.33156	0.0:0.6177:0.3011:0.0812	.	301	Q8IUY3	GRAM2_HUMAN	N	301	ENSP00000311657:S301N	ENSP00000311657:S301N	S	-	2	0	GRAMD2	70242715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.216000	0.17585	0.235000	0.21160	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	1	0	0	41	400	0	77	0	2.807585e-01	1	10	0	77	2		0	0	0	0	0	2	1	1	41	392	0	75	2								-12.508630	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.790000	1.000000	1.000000	0.974818	0.990000	1	9.300000e-01	1
PARP6	56965	broad.mit.edu	37	15	72546819	72546819	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72546819T>G	ENST00000569795.1	-	15	1855	c.1168A>C	c.(1168-1170)Atg>Ctg	p.M390L	PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.M390L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6			18					CGAATAGACATCACACTATCC	0.443000																								0							SO:0001583	missense			ENST00000569795.1	1	1	hg19	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092446	0.36952	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.22421	0.69	0.58432	D	0.999998	B;B;B	0.18863	0.0;0.031;0.0	B;B;B	0.14023	0.0;0.01;0.0	T	0.29882	-0.9997	9	0.23891	T	0.37	-33.475	14.8922	0.70617	0.0:0.0:0.0:1.0	.	390;390;322	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	390;390;390;235;235	.	ENSP00000260376:M390L	M	-	1	0	PARP6	70333873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.375000	0.79646	2.107000	0.64212	0.460000	0.39030	ATG		TCGA-IB-7651-01A-11D-2154-08	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	1	0	1	27	187	0	44	1	9.998775e-01	18	82	0	44	2		0	0	0	0	0	2	1	1	27	179	0	44	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998349	0.990000	1	9.900000e-01	1
PARP6	56965	broad.mit.edu	37	15	72551961	72551961	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72551961T>C	ENST00000569795.1	-	11	1485	c.798A>G	c.(796-798)ggA>ggG	p.G266G	PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Silent_p.G266G			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6			18					GAACGAGGAATCCATACTCCA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000569795.1	1	1	hg19	CCDS10241.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	1	0	0	250	1058	0	304	1	1	20	84	0	304	2		0	0	0	0	0	2	1	1	247	1031	0	302	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP6	56965	broad.mit.edu	37	15	72557756	72557756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72557756C>T	ENST00000569795.1	-	6	922	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.D79N			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6			18					CCACTTACATCGAGGAAGCTG	0.468000																								0							SO:0001583	missense			ENST00000569795.1	1	1	hg19	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	36	5.649327	0.96714	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	L	0.36672	1.1	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.66716	-0.5853	9	0.39692	T	0.17	-15.8467	18.1292	0.89596	0.0:1.0:0.0:0.0	.	79;79	Q0VDG0;Q2NL67	.;PARP6_HUMAN	N	79	.	ENSP00000260376:D79N	D	-	1	0	PARP6	70344810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.533000	0.85409	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	1	0	0	27	258	0	56	1	9.950171e-01	5	77	0	56	2		0	0	0	0	0	2	1	1	26	256	0	56	2								-3.017764	1	0	120932	2	34	1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.750000	1.000000	1.000000	0.969173	0.990000	1	9.100000e-01	1
CELF6	60677	broad.mit.edu	37	15	72582592	72582592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72582592G>A	ENST00000569547.1	-	4	470	c.399C>T	c.(397-399)gaC>gaT	p.D133D	CELF6_ENST00000569311.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000395258.2_Silent_p.D20D|CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000287202.5_Silent_p.D133D|CELF6_ENST00000543764.2_Silent_p.D18D			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6			13					ACAGCTTTCGGTCCTCTGGGG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000569547.1	1	1	hg19	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138296	0.37728	.	.	ENSG00000140488	ENST00000379915	.	.	.	5.41	2.5	0.30297	.	.	.	.	.	T	0.60090	0.2242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57015	-0.7883	5	0.45353	T	0.12	-17.7166	8.2792	0.31889	0.2471:0.0:0.7529:0.0	.	.	.	.	I	11	.	ENSP00000369247:T11I	T	-	2	0	CELF6	70369646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.279000	0.51670	0.660000	0.30964	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	1	0	1	18	97	0	31	0	7.285835e-02	0	3	0	31	2		0	0	0	0	0	2	1	9.999853e-01	16	95	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999181	0.990000	1	9.900000e-01	1
CELF6	60677	broad.mit.edu	37	15	72608191	72608191	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72608191G>A	ENST00000569547.1	-	2	411	c.340C>T	c.(340-342)Cca>Tca	p.P114S	RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000287202.5_Missense_Mutation_p.P114S			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6			13					CTTACCCCTGGCAGGGTCTTC	0.637000																								0							SO:0001583	missense			ENST00000569547.1	1	1	hg19	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744052	0.89663	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.15718	2.4	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.43919	U	0.000506	T	0.37461	0.1004	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.968	T	0.01702	-1.1292	10	0.66056	D	0.02	-4.7191	18.957	0.92662	0.0:0.0:1.0:0.0	.	114;114	B4DJB6;Q96J87	.;CELF6_HUMAN	S	114	ENSP00000287202:P114S	ENSP00000287202:P114S	P	-	1	0	CELF6	70395245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.367000	0.97148	2.824000	0.97209	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	1	0	1	16	48	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999575e-01	15	46	0	11	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
TMEM202	338949	broad.mit.edu	37	15	72691241	72691241	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72691241A>C	ENST00000341689.3	+	2	383	c.329A>C	c.(328-330)aAg>aCg	p.K110T	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202			18					CACACACCCAAGCCACCCTGT	0.517000																								0							SO:0001583	missense			ENST00000341689.3	1	1	hg19	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775452	0.31411	.	.	ENSG00000187806	ENST00000341689	T	0.44881	0.91	3.72	2.55	0.30701	.	0.279921	0.25552	N	0.029897	T	0.48892	0.1525	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	P	0.61003	0.882	T	0.39461	-0.9613	10	0.42905	T	0.14	-14.1691	6.0233	0.19640	0.878:0.0:0.122:0.0	.	110	A6NGA9	TM202_HUMAN	T	110	ENSP00000340212:K110T	ENSP00000340212:K110T	K	+	2	0	TMEM202	70478295	0.001000	0.12720	0.998000	0.56505	0.263000	0.26337	0.464000	0.21988	0.583000	0.29574	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	0	0	0	15	472	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	9.998341e-01	15	454	0	115	2								-13.936540	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.360000	0.210000	0.560000	0.360000	0.379370	0.360000	0	2.800000e-01	4.700000e-01
ARIH1	25820	broad.mit.edu	37	15	72853880	72853880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72853880G>T	ENST00000379887.4	+	6	1108	c.794G>T	c.(793-795)aGc>aTc	p.S265I		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1			14					ATAACAAATAGCTTTGTAGAG	0.259000																								0							SO:0001583	missense			ENST00000379887.4	1	1	hg19	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937987	0.92526	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.81247	-1.47	5.52	5.52	0.82312	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.92459	0.5976	10	0.87932	D	0	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	265	Q9Y4X5	ARI1_HUMAN	I	265;235	ENSP00000369217:S265I	ENSP00000299305:S235I	S	+	2	0	ARIH1	70640934	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.419000	0.97397	2.765000	0.95021	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	1	0	1	24	125	0	28	1	9.999913e-01	22	82	0	28	2		0	0	0	0	0	2	1	9.999998e-01	24	123	0	28	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999852	0.990000	1	9.900000e-01	1
ARIH1	25820	broad.mit.edu	37	15	72875582	72875582	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72875582G>T	ENST00000379887.4	+	14	1937	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1			14					TTTTGTTACAGCATGTGCATG	0.373000																								0							SO:0001583	missense			ENST00000379887.4	1	1	hg19	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713107	0.48517	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.86562	-2.14	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	L	0.31926	0.97	0.80722	D	1	P	0.39424	0.673	B	0.40982	0.345	D	0.84533	0.0634	10	0.62326	D	0.03	.	14.8637	0.70399	0.0:0.0:0.8565:0.1435	.	541	Q9Y4X5	ARI1_HUMAN	H	541;511	ENSP00000369217:Q541H	ENSP00000299305:Q511H	Q	+	3	2	ARIH1	70662636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.242000	0.72376	2.763000	0.94921	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	1	0	1	81	412	0	68	1	1	27	114	0	68	2		0	0	0	0	0	2	1	1	81	402	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.989262	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGA6B	55889	broad.mit.edu	37	15	72953649	72953649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72953649G>T	ENST00000421285.3	+	8	609	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B			16					GGTTACAGCAGACCATAAAGG	0.587000																								0							SO:0001583	missense			ENST00000421285.3	1	1	hg19	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	9.908	1.208805	0.22205	.	.	ENSG00000215186	ENST00000421285	T	0.22945	1.93	0.39	0.39	0.16275	.	.	.	.	.	T	0.35711	0.0941	L	0.50333	1.59	0.09310	N	1	D	0.54397	0.966	P	0.61592	0.891	T	0.12656	-1.0539	9	0.49607	T	0.09	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	203	A6NDN3	GOG6B_HUMAN	H	203	ENSP00000408132:Q203H	ENSP00000408132:Q203H	Q	+	3	2	GOLGA6B	70740703	0.805000	0.28982	0.008000	0.14137	0.007000	0.05969	2.996000	0.49449	0.472000	0.27344	0.134000	0.15878	CAG		TCGA-IB-7651-01A-11D-2154-08	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	0	0	0	56	1118	0	289		0	0	0	0	289	2		0	0	0	0	0	2	1	1	54	1054	0	307	2								-6.308494	1	1	0	0		1	1	3	4	2.292824	1	0.170000	2.060000	2.811986e-01	0.650000	0.490000	1.000000	0.650000	0.681945	0.650000	0	5.700000e-01	7.700000e-01
BBS4	585	broad.mit.edu	37	15	72987519	72987519	+	Splice_Site	SNP	G	G	T	rs113994184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72987519G>T	ENST00000268057.4	+	2	67	c.26G>T	c.(25-27)aGa>aTa	p.R9I	BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Splice_Site_p.R17I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4			19					TCATTTCAGAGAACTCAATTT	0.353000									Bardet-Biedl syndrome															0							SO:0001630	splice_region_variant	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000268057.4	1	0	hg19	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395838	0.25205	.	.	ENSG00000140463	ENST00000268057;ENST00000395205	T;T	0.71461	-0.55;-0.57	3.33	-0.121	0.13535	.	0.793638	0.11520	N	0.555855	T	0.46852	0.1414	N	0.11427	0.14	0.80722	D	1	P;B	0.35656	0.514;0.001	B;B	0.35688	0.208;0.002	T	0.22941	-1.0202	10	0.44086	T	0.13	-1.6484	5.3806	0.16189	0.5246:0.0:0.4754:0.0	.	17;9	Q96RK4-2;Q96RK4	.;BBS4_HUMAN	I	9;17	ENSP00000268057:R9I;ENSP00000378631:R17I	ENSP00000268057:R9I	R	+	2	0	BBS4	70774572	0.998000	0.40836	0.998000	0.56505	0.860000	0.49131	0.039000	0.13884	-0.015000	0.14150	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	1	0	1	45	217	0	46	1	9.997839e-01	16	48	0	46	2		0	0	0	0	0	2	1	1	45	203	0	46	2								-3.382313	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BBS4	585	broad.mit.edu	37	15	73029167	73029167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73029167A>G	ENST00000268057.4	+	15	1354	c.1313A>G	c.(1312-1314)aAa>aGa	p.K438R	BBS4_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|BBS4_ENST00000395205.2_Missense_Mutation_p.K446R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4			19					GTCTGGACCAAACCAGTTAAA	0.507000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000268057.4	0	1	hg19	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582989	0.65992	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	L	0.43152	1.355	0.54753	D	0.999987	B;B;B	0.21753	0.06;0.06;0.035	B;B;B	0.21917	0.037;0.037;0.016	T	0.78645	-0.2123	10	0.33141	T	0.24	-7.3833	14.7172	0.69277	1.0:0.0:0.0:0.0	.	426;446;438	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	R	266;438;426;446	ENSP00000445964:K266R;ENSP00000268057:K438R;ENSP00000442492:K426R;ENSP00000378631:K446R	ENSP00000268057:K438R	K	+	2	0	BBS4	70816220	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	6.216000	0.72212	2.219000	0.72066	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	0	0	0	13	625	0	173	1	4.987738e-01	2	76	0	173	2		0	0	0	0	0	2	1	9.994804e-01	13	614	0	172	2								-10.445980	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.250000	0.130000	1.000000	0.240000	0.298400	0.250000	0	1.800000e-01	3.400000e-01
ADPGK	83440	broad.mit.edu	37	15	73045191	73045191	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73045191G>A	ENST00000311669.8	-	7	1075	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Silent_p.L54L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase			7					AGAAATAACAGCTCCTGTTCA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000311669.8	1	1	hg19	CCDS42057.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	1	0	1	63	229	0	67	1	1	33	162	0	67	2		0	0	0	0	0	2	1	1	63	219	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEO1	4756	broad.mit.edu	37	15	73409160	73409160	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73409160G>T	ENST00000339362.5	+	3	857	c.410G>T	c.(409-411)gGa>gTa	p.G137V	NEO1_ENST00000261908.6_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V|NEO1_ENST00000560262.1_Missense_Mutation_p.G137V			Q92859	NEO1_HUMAN	neogenin 1			57					GAGAGTCTTGGAACTATTATC	0.343000																								0							SO:0001583	missense			ENST00000339362.5	1	1	hg19	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675237	0.88445	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.58506	0.33;0.33	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87943	0.2718	10	0.72032	D	0.01	-16.9501	20.33	0.98713	0.0:0.0:1.0:0.0	.	137;137;137	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	V	137	ENSP00000341198:G137V;ENSP00000261908:G137V	ENSP00000261908:G137V	G	+	2	0	NEO1	71196213	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.209000	0.95087	2.810000	0.96702	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	1	0	1	95	424	0	92	1	9.998157e-01	6	52	0	92	2		0	0	0	0	0	2	1	1	93	417	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEO1	4756	broad.mit.edu	37	15	73541462	73541462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73541462T>C	ENST00000339362.5	+	11	2115	c.1668T>C	c.(1666-1668)acT>acC	p.T556T	NEO1_ENST00000261908.6_Silent_p.T556T|NEO1_ENST00000558964.1_Silent_p.T556T|NEO1_ENST00000560262.1_Silent_p.T556T|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1			57					CCTCCATCACTGTTACGTGGG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000339362.5	0	1	hg19	CCDS10247.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	0	0	0	12	542	0	97	1	7.195682e-01	4	110	0	97	2		0	0	0	0	0	2	1	9.990272e-01	12	532	0	94	2								-10.075060	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.260000	0.140000	1.000000	0.250000	0.314816	0.260000	0	1.900000e-01	3.700000e-01
NEO1	4756	broad.mit.edu	37	15	73542036	73542036	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73542036A>G	ENST00000339362.5	+	12	2315	c.1868A>G	c.(1867-1869)gAt>gGt	p.D623G	NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000558964.1_Missense_Mutation_p.D623G|NEO1_ENST00000560262.1_Missense_Mutation_p.D623G			Q92859	NEO1_HUMAN	neogenin 1			57					TCCACACCAGATGTTGCTGTT	0.423000																								0							SO:0001583	missense			ENST00000339362.5	1	1	hg19	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962056	0.92791	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.53206	0.63;0.63	5.79	5.79	0.91817	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.60455	1.87	0.80722	D	1	D;P;P;P	0.63046	0.992;0.48;0.801;0.953	D;P;P;P	0.71870	0.975;0.75;0.806;0.886	T	0.64542	-0.6383	10	0.46703	T	0.11	-22.4207	15.803	0.78471	1.0:0.0:0.0:0.0	.	623;623;361;623	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	G	623;361;623	ENSP00000341198:D623G;ENSP00000261908:D623G	ENSP00000261908:D623G	D	+	2	0	NEO1	71329089	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.204000	0.95041	2.198000	0.70561	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	0	0	0	16	494	0	120	1	7.200263e-01	4	75	0	120	2		0	0	0	0	0	2	1	9.999221e-01	16	483	0	120	2								-14.740870	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.380000	0.220000	1.000000	0.370000	0.423367	0.380000	0	2.900000e-01	5.100000e-01
HCN4	10021	broad.mit.edu	37	15	73616569	73616569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73616569C>T	ENST00000261917.3	-	7	2997	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4			55					TGGCTGTGCGCCGGCCCCGGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000261917.3	1	1	hg19	CCDS10248.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	1	0	0	68	246	0	46	0	0	1	0	0	46	2		0	0	0	0	0	2	1	1	68	240	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HCN4	10021	broad.mit.edu	37	15	73621943	73621943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73621943C>T	ENST00000261917.3	-	4	2554	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4			55					CGGGAGGAGTCCAGGGACTGG	0.637000																								0							SO:0001583	missense			ENST00000261917.3	1	1	hg19	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114948	0.77210	.	.	ENSG00000138622	ENST00000261917	D	0.96554	-4.05	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.96787	0.8951	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95483	0.8562	9	0.21014	T	0.42	.	16.5316	0.84362	0.0:1.0:0.0:0.0	.	521	Q9Y3Q4	HCN4_HUMAN	N	521	ENSP00000261917:D521N	ENSP00000261917:D521N	D	-	1	0	HCN4	71408996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.684000	0.84104	2.044000	0.60594	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	1	0	1	84	320	0	73	0	0	0	1	0	73	2		0	0	0	0	0	2	1	1	83	310	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD276	80381	broad.mit.edu	37	15	73994861	73994861	+	Silent	SNP	G	G	A	rs145054349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73994861G>A	ENST00000318443.5	+	3	647	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000318424.5_Silent_p.A115A|CD276_ENST00000564751.1_Silent_p.A115A	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule			13					TGCGTGTGGCGGACGAGGGCA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000318443.5	1	1	hg19	CCDS32288.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	1	0	1	36	153	0	40	1	9.999514e-01	9	60	0	40	2		0	0	0	0	0	2	1	1	36	147	0	41	2								-3.717428	1	1	121366	39	47	1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD276	80381	broad.mit.edu	37	15	73995295	73995295	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73995295T>G	ENST00000318443.5	+	4	903	c.601T>G	c.(601-603)Ttg>Gtg	p.L201V	CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000537340.2_Missense_Mutation_p.L55V|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule			13					CGAGCAGGGCTTGTTTGATGT	0.632000																								0							SO:0001583	missense			ENST00000318443.5	1	1	hg19	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595574	0.46318	.	.	ENSG00000103855	ENST00000318443;ENST00000379823;ENST00000537340	T;T	0.80824	-1.42;-1.42	3.29	-3.87	0.04218	Immunoglobulin subtype 2 (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89897	0.6848	M	0.90977	3.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.994	D	0.89774	0.3956	9	0.87932	D	0	.	13.8295	0.63370	0.0:0.8405:0.0:0.1595	.	147;201;201	B4DK26;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	V	201;201;55	ENSP00000320084:L201V;ENSP00000441087:L55V	ENSP00000320084:L201V	L	+	1	2	CD276	71782348	0.053000	0.20554	0.962000	0.40283	0.127000	0.20565	0.193000	0.17116	-0.903000	0.03881	0.260000	0.18958	TTG		TCGA-IB-7651-01A-11D-2154-08	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	1	0	1	37	233	0	57	1	1	21	218	0	57	2		0	0	0	0	0	2	1	1	35	221	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999901	0.990000	1	9.900000e-01	1
CD276	80381	broad.mit.edu	37	15	74003513	74003513	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74003513T>C	ENST00000318443.5	+	9	1884		c.e9+2		CD276_ENST00000561213.1_Silent_p.G528G|CD276_ENST00000537340.2_Splice_Site|CD276_ENST00000318424.5_Splice_Site|CD276_ENST00000564751.1_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule			13					GCAAAGAAGGTAAAGACACCT	0.532000																								0							SO:0001630	splice_region_variant			ENST00000318443.5	1	1	hg19	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973409	0.53614	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000537340	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0701	0.59057	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD276	71790566	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	4.423000	0.59861	1.756000	0.51951	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	1	0	1	59	294	0	81	1	3.367452e-01	4	3	0	81	2		0	0	0	0	0	2	1	1	57	286	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PML	5371	broad.mit.edu	37	15	74315645	74315645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74315645G>A	ENST00000268058.3	+	3	1175	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	PML_ENST00000565898.1_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000567543.1_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia			31					TGCCGCCTGCGCCAGGAGGAG	0.677000			T	RARA, PAX5	APL, ALL										Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0							SO:0001583	missense			ENST00000268058.3	1	1	hg19	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996970	0.35226	0.0	1.17E-4	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.48201	0.82	4.53	2.61	0.31194	.	0.685983	0.13244	N	0.402604	T	0.59252	0.2180	L	0.59436	1.845	0.20196	N	0.999927	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.991;0.999;0.998;0.999;0.996;0.999;1.0;0.999;0.999;0.998;0.999;0.998	D;P;D;P;P;P;D;D;P;D;P;D;P	0.68621	0.949;0.775;0.959;0.877;0.9;0.899;0.91;0.923;0.868;0.931;0.799;0.909;0.89	T	0.42965	-0.9420	10	0.62326	D	0.03	-17.2149	7.2127	0.25943	0.209:0.0:0.791:0.0	.	360;310;360;360;360;360;360;360;360;360;360;360;363	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	H	360	ENSP00000268058:R360H	ENSP00000268058:R360H	R	+	2	0	PML	72102698	0.369000	0.25039	0.944000	0.38274	0.040000	0.13550	1.448000	0.35112	1.136000	0.42199	-0.379000	0.06801	CGC		TCGA-IB-7651-01A-11D-2154-08	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	1	0	0	11	236	0	57	1	9.769600e-01	7	133	0	57	2		0	0	0	0	0	2	1	9.983690e-01	11	234	0	57	2								-3.351574	1	1	121088	5	39	1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.550000	0.290000	1.000000	0.520000	0.583465	0.550000	0	4.000000e-01	7.600000e-01
PML	5371	broad.mit.edu	37	15	74325728	74325728	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74325728C>T	ENST00000268058.3	+	6	1726	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	PML_ENST00000565898.1_Missense_Mutation_p.H496Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000567543.1_Intron|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000564428.1_Missense_Mutation_p.H496Y|PML_ENST00000359928.4_Intron|PML_ENST00000435786.2_Missense_Mutation_p.H544Y	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia			31					CAACAGCAACCACGTGGCCAG	0.667000			T	RARA, PAX5	APL, ALL										Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0							SO:0001583	missense			ENST00000268058.3	1	1	hg19	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505103	0.64410	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000436891;ENST00000268058;ENST00000268059;ENST00000354026;ENST00000417341;ENST00000418568	T	0.47869	0.83	4.81	3.83	0.44106	.	3.797720	0.00397	N	0.000054	T	0.65502	0.2697	M	0.61703	1.905	0.31687	N	0.64232	B;P;P;P;P;D;D;B;B;D	0.62365	0.003;0.917;0.952;0.952;0.952;0.991;0.986;0.01;0.003;0.986	B;P;B;P;P;P;P;B;B;P	0.59115	0.004;0.472;0.439;0.536;0.536;0.852;0.536;0.006;0.004;0.842	T	0.53472	-0.8434	10	0.59425	D	0.04	-32.366	10.8648	0.46849	0.1874:0.8126:0.0:0.0	.	544;544;496;496;544;496;544;544;544;499	P29590-3;P29590;P29590-11;P29590-12;P29590-5;P29590-13;P29590-4;P29590-2;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.	Y	544;544;544;544;544;496;105;544	ENSP00000268058:H544Y	ENSP00000268058:H544Y	H	+	1	0	PML	72112781	0.733000	0.28132	0.918000	0.36340	0.060000	0.15804	1.853000	0.39358	2.386000	0.81285	0.549000	0.68633	CAC		TCGA-IB-7651-01A-11D-2154-08	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	1	0	1	58	329	0	52	1	1	68	225	0	52	2		0	0	0	0	0	2	1	1	55	325	0	50	2								-2.969353	1	1	0	0		1	1	2	3	1.997959	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2			36					TAGTCTGTCCGCGAACAAGAT	0.632000																								0							SO:0001583	missense			ENST00000361742.3	1	1	hg19	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714877	0.68844	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44620	-0.9316	10	0.23891	T	0.37	.	17.5608	0.87906	0.0:0.0:1.0:0.0	.	60	Q6UXK2	ISLR2_HUMAN	T	60	ENSP00000403244:A60T;ENSP00000355402:A60T;ENSP00000411443:A60T;ENSP00000411834:A60T;ENSP00000408872:A60T	ENSP00000355402:A60T	A	+	1	0	ISLR2	72212326	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	9.661000	0.98601	2.151000	0.67156	0.407000	0.27541	GCG		TCGA-IB-7651-01A-11D-2154-08	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	1	0	1	109	418	0	104	1	9.704078e-01	7	17	0	104	2		0	0	0	0	0	2	1	1	108	414	0	103	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
ISLR	3671	broad.mit.edu	37	15	74467458	74467458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467458C>T	ENST00000249842.3	+	2	616	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	ISLR_ENST00000395118.1_Missense_Mutation_p.R87C|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat			20					CAATGAGATCCGCACGGTGGC	0.632000																								0							SO:0001583	missense			ENST00000249842.3	1	1	hg19	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098976	0.37048	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.58210	0.35;0.35	4.05	3.05	0.35203	.	0.269415	0.25622	U	0.029420	T	0.50514	0.1620	L	0.38692	1.165	0.29700	N	0.840249	D	0.76494	0.999	P	0.60541	0.876	T	0.50668	-0.8801	10	0.54805	T	0.06	.	2.1307	0.03749	0.2833:0.3843:0.2311:0.1013	.	87	O14498	ISLR_HUMAN	C	87	ENSP00000249842:R87C;ENSP00000378550:R87C	ENSP00000249842:R87C	R	+	1	0	ISLR	72254511	0.872000	0.30054	0.960000	0.40013	0.520000	0.34377	1.133000	0.31430	1.822000	0.53115	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	1	0	1	62	291	0	50	0	1	1	674	0	50	2		0	0	0	0	0	2	1	1	61	289	0	48	2								-2.983498	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ISLR	3671	broad.mit.edu	37	15	74467777	74467777	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467777C>T	ENST00000249842.3	+	2	935	c.578C>T	c.(577-579)aCa>aTa	p.T193I	ISLR_ENST00000395118.1_Missense_Mutation_p.T193I|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat			20					TGGCTCAAGACATGGGCCCTG	0.657000																								0							SO:0001583	missense			ENST00000249842.3	1	1	hg19	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168026	0.06461	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.52983	0.64;0.64	4.05	2.86	0.33363	Cysteine-rich flanking region, C-terminal (1);	1.087340	0.07255	U	0.866544	T	0.37183	0.0994	L	0.49350	1.555	0.09310	N	1	B	0.27625	0.183	B	0.16289	0.015	T	0.32161	-0.9917	10	0.42905	T	0.14	.	2.7872	0.05377	0.3256:0.4383:0.1303:0.1058	.	193	O14498	ISLR_HUMAN	I	193	ENSP00000249842:T193I;ENSP00000378550:T193I	ENSP00000249842:T193I	T	+	2	0	ISLR	72254830	0.469000	0.25846	0.855000	0.33649	0.120000	0.20174	1.615000	0.36922	1.822000	0.53115	0.313000	0.20887	ACA		TCGA-IB-7651-01A-11D-2154-08	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	1	0	1	56	233	0	41	0	1	1	772	0	41	2		0	0	0	0	0	2	1	1	55	229	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA7A	8482	broad.mit.edu	37	15	74708920	74708920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74708920C>T	ENST00000261918.4	-	7	1345	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y|SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)			30					GCTCACCCTGCACAACTGGGC	0.542000																								0							SO:0001583	missense			ENST00000261918.4	1	1	hg19	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439914	0.63067	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	D;D;D	0.90133	-2.62;-2.62;-2.62	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97514	1.0068	10	0.87932	D	0	-31.9584	16.9441	0.86226	0.0:1.0:0.0:0.0	.	252;266	F5H1S0;O75326	.;SEM7A_HUMAN	Y	266;252;101	ENSP00000261918:C266Y;ENSP00000438966:C252Y;ENSP00000441493:C101Y	ENSP00000261918:C266Y	C	-	2	0	SEMA7A	72495973	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	4.368000	0.59505	2.525000	0.85131	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	1	0	1	40	190	0	52	1	9.998938e-01	12	57	0	52	2		0	0	0	0	0	2	1	1	40	180	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ARID3B	10620	broad.mit.edu	37	15	74882175	74882175	+	Nonsense_Mutation	SNP	C	C	T	rs148447597	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74882175C>T	ENST00000346246.5	+	5	943	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)			14					CCCCATCAACCGAATCCCCAT	0.522000																								0							SO:0001587	stop_gained			ENST00000346246.5	0	0	hg19	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	37	6.607772	0.97701	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6754	14.6832	0.69033	0.1542:0.8458:0.0:0.0	.	.	.	.	X	238	.	ENSP00000343126:R238X	R	+	1	2	ARID3B	72669228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	2.455000	0.83008	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	1	0	1	61	323	0	88	1	8.267832e-01	2	17	0	88	2		0	0	0	0	0	2	1	1	61	317	0	88	2								-2.719957	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLK3	1198	broad.mit.edu	37	15	74911554	74911554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911554G>A	ENST00000395066.3	+	2	922	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3			15					CACTGTAAGCGATACCGCTCC	0.602000													Ovarian(133;694 1754 28950 29027 31859)											0							SO:0001583	missense			ENST00000395066.3	1	1	hg19	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924401	0.73213	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.55234	0.53;0.77	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000016	T	0.60248	0.2254	L	0.27053	0.805	0.42845	D	0.994061	D;D;D	0.89917	0.997;1.0;0.99	D;D;P	0.78314	0.968;0.991;0.776	T	0.64123	-0.6481	10	0.56958	D	0.05	.	15.4596	0.75342	0.0:0.0:1.0:0.0	.	154;154;6	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	Q	6;6;154;6;6	ENSP00000344112:R6Q;ENSP00000323106:R6Q	ENSP00000344112:R6Q	R	+	2	0	CLK3	72698607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.093000	0.64517	2.405000	0.81733	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3	1	0	0	46	887	0	177	1	9.128307e-01	5	76	0	177	2		0	0	0	0	0	2	1	1	44	872	0	175	2								-5.795259	1	0	121412	3	38	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.570000	0.420000	0.750000	0.580000	0.585711	0.570000	0	4.900000e-01	6.700000e-01
CLK3	1198	broad.mit.edu	37	15	74911640	74911640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911640C>T	ENST00000395066.3	+	2	1008	c.547C>T	c.(547-549)Cga>Tga	p.R183*	CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3			15					AGGGAGACTGCGATACCCGTC	0.577000													Ovarian(133;694 1754 28950 29027 31859)											0							SO:0001587	stop_gained			ENST00000395066.3	0	1	hg19	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929923	0.92389	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	.	.	.	4.74	4.74	0.60224	.	0.514121	0.17940	N	0.156900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	15.699	0.77528	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;183;35;35	.	ENSP00000344112:R35X	R	+	1	2	CLK3	72698693	0.998000	0.40836	0.979000	0.43373	0.949000	0.60115	2.819000	0.48049	2.464000	0.83262	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3	1	0	0	112	590	0	125	1	9.999936e-01	4	85	0	125	2		0	0	0	0	0	2	1	1	111	577	0	123	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EDC3	80153	broad.mit.edu	37	15	74948392	74948392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74948392G>A	ENST00000315127.4	-	4	683	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y|EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3			16					TGATTTGGGTGCCTGCTACTA	0.438000																								0							SO:0001583	missense			ENST00000315127.4	1	1	hg19	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	G	4.854	0.158716	0.09236	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.44	5.44	0.79542	.	0.290119	0.38959	N	0.001513	T	0.29389	0.0732	N	0.04508	-0.205	0.36208	D	0.851152	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	9	0.27082	T	0.32	-10.107	11.6774	0.51438	0.0809:0.0:0.9191:0.0	.	168	Q96F86	EDC3_HUMAN	Y	168	.	ENSP00000320503:H168Y	H	-	1	0	EDC3	72735445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.000000	0.63940	2.535000	0.85469	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	1	0	1	37	379	0	87	1	9.958620e-01	9	79	0	87	2		0	0	0	0	0	2	1	1	36	373	0	87	2								-11.656020	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.750000	1.000000	1.000000	0.959031	0.990000	1	8.800000e-01	1
CYP1A1	1543	broad.mit.edu	37	15	75014721	75014721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75014721G>T	ENST00000379727.3	-	2	916	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I|CYP1A1_ENST00000395049.4_Missense_Mutation_p.L240I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1			34				Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AGGTAGCGAAGAATAGGGATG	0.473000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia															0							SO:0001583	missense	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	ENST00000379727.3	1	1	hg19	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919052	0.73098	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049	T;T;T	0.71579	-0.58;-0.58;-0.58	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.84326	2.69	0.80722	D	1	D;D	0.69078	0.997;0.968	D;D	0.74348	0.983;0.936	D	0.87143	0.2204	10	0.56958	D	0.05	.	18.384	0.90461	0.0:0.0:1.0:0.0	.	240;240	E7EMT5;P04798	.;CP1A1_HUMAN	I	240	ENSP00000369050:L240I;ENSP00000378488:L240I;ENSP00000378489:L240I	ENSP00000369050:L240I	L	-	1	0	CYP1A1	72801774	1.000000	0.71417	0.725000	0.30721	0.863000	0.49368	6.597000	0.74118	2.322000	0.78497	0.555000	0.69702	CTT		TCGA-IB-7651-01A-11D-2154-08	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	1	0	1	54	285	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	53	278	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP1A2	1544	broad.mit.edu	37	15	75042451	75042451	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75042451C>A	ENST00000343932.4	+	2	435	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2			33				"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	AGAGCTTGACCTTCAGCACAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000343932.4	1	1	hg19	CCDS32293.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	1	0	1	180	651	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1	179	643	0	144	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMAN1L	79748	broad.mit.edu	37	15	75114202	75114202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75114202C>T	ENST00000309664.5	+	10	1231	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	LMAN1L_ENST00000379709.3_Silent_p.T352T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like			19					TTCCATCCACCCCAGGGAGGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000309664.5	1	1	hg19	CCDS10270.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	0	0	1	80	434	1	128		0	0	0	1	128	2		0	0	0	0	0	2	1	1	74	426	1	127	15								-3.224279	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMAN1L	79748	broad.mit.edu	37	15	75116790	75116790	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75116790T>C	ENST00000309664.5	+	13	1561	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	LMAN1L_ENST00000379709.3_Silent_p.T462T|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like			19					TCATTCAGACTGTAGGCTTCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000309664.5	1	1	hg19	CCDS10270.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	1	0	1	166	750	0	171		0	0	0	0	171	2		0	0	0	0	0	2	1	1	164	730	0	168	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ULK3	25989	broad.mit.edu	37	15	75131059	75131059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75131059C>T	ENST00000440863.2	-	10	1118	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ULK3_ENST00000569437.1_Missense_Mutation_p.E343K|ULK3_ENST00000568667.1_Missense_Mutation_p.E354K	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3			2					GCCTTGAGCTCCTCAGCCCGG	0.627000																								0							SO:0001583	missense			ENST00000440863.2	1	1	hg19	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169665	0.78452	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.70045	-0.45	5.02	4.1	0.47936	MIT (2);	.	.	.	.	T	0.58609	0.2134	N	0.20610	0.595	0.49483	D	0.999794	P;P;P;P	0.46706	0.767;0.854;0.883;0.873	B;P;P;B	0.49140	0.376;0.479;0.601;0.412	T	0.58387	-0.7645	9	0.40728	T	0.16	-15.3133	12.0722	0.53624	0.0:0.9153:0.0:0.0847	.	354;253;343;343	B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;ULK3_HUMAN;.	K	343;354	ENSP00000400312:E343K	ENSP00000393658:E354K	E	-	1	0	ULK3	72918112	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.003000	0.76310	1.103000	0.41568	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	1	0	1	23	78	0	24	1	9.999874e-01	27	43	0	24	2		0	0	0	0	0	2	1	9.999997e-01	23	75	0	23	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
ULK3	25989	broad.mit.edu	37	15	75133792	75133792	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75133792C>T	ENST00000440863.2	-	4	514	c.423G>A	c.(421-423)caG>caA	p.Q141Q	ULK3_ENST00000569437.1_Silent_p.Q141Q|ULK3_ENST00000568667.1_Silent_p.Q152Q	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3			2					GTAGAATGTTCTGTGGCTTCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000440863.2	1	1	hg19	CCDS45305.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	1	0	1	30	164	0	45	1	9.998078e-01	13	63	0	45	2		0	0	0	0	0	2	1	1	30	161	0	44	2								-3.345991	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
MPI	4351	broad.mit.edu	37	15	75190002	75190002	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75190002T>C	ENST00000352410.4	+	8	1270	c.1203T>C	c.(1201-1203)aaT>aaC	p.N401N	MPI_ENST00000566377.1_3'UTR|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000323744.6_Silent_p.N340N|MPI_ENST00000535694.1_Silent_p.N351N|MPI_ENST00000563786.1_Silent_p.N381N			P34949	MPI_HUMAN	mannose phosphate isomerase			9					TTGGGGCCAATGAGAGTGTCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000352410.4	1	1	hg19	CCDS10272.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4	1	0	1	76	346	0	71	1	1	42	71	0	71	2		0	0	0	0	0	2	1	1	76	338	0	70	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAMP5	192683	broad.mit.edu	37	15	75309056	75309056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75309056G>A	ENST00000361900.6	+	5	466	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000568081.1_5'Flank|SCAMP5_ENST00000565923.1_3'UTR	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5			5					CTGCTCCTACGTCTGCTGGTT	0.587000																								0							SO:0001583	missense			ENST00000361900.6	1	1	hg19	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864774	0.91511	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	T;T	0.18502	2.21;2.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55103	1.725	0.80722	D	1	D;P	0.76494	0.999;0.956	D;P	0.76071	0.987;0.6	T	0.08932	-1.0698	10	0.52906	T	0.07	-7.7649	17.294	0.87164	0.0:0.0:1.0:0.0	.	87;87	Q8TAC9-2;Q8TAC9	.;SCAM5_HUMAN	I	87	ENSP00000355387:V87I;ENSP00000406547:V87I	ENSP00000355387:V87I	V	+	1	0	SCAMP5	73096109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.841000	0.86834	2.391000	0.81399	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	1	0	1	81	396	0	83	0	5.292171e-01	1	9	0	83	2		0	0	0	0	0	2	1	1	80	382	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAMP5	192683	broad.mit.edu	37	15	75310804	75310804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75310804G>A	ENST00000361900.6	+	7	648	c.441G>A	c.(439-441)tcG>tcA	p.S147S	SCAMP5_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000425597.3_Silent_p.S147S|SCAMP5_ENST00000562212.1_Silent_p.S155S|SCAMP5_ENST00000568081.1_Silent_p.S80S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5			5					ACATTGGCTCGGCGGTGGTGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000361900.6	1	1	hg19	CCDS45306.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	1	0	1	159	838	0	186	1	9.838889e-01	4	32	0	186	2		0	0	0	0	0	2	1	1	155	806	0	180	2								-2.523161	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C15orf39	56905	broad.mit.edu	37	15	75499684	75499684	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499684C>A	ENST00000360639.2	+	2	1615	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39			16					CCTGTGAGGCCTGCACAGGAA	0.642000																								0							SO:0001583	missense			ENST00000360639.2	1	1	hg19	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104607	0.20632	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.69926	-0.44;-0.44	4.89	3.97	0.46021	.	0.193003	0.33895	N	0.004454	T	0.72550	0.3474	L	0.60455	1.87	0.37175	D	0.903238	D	0.71674	0.998	P	0.61003	0.882	T	0.77835	-0.2440	10	0.87932	D	0	-3.5373	8.1575	0.31178	0.0:0.8921:0.0:0.1079	.	432	Q6ZRI6	CO039_HUMAN	H	432	ENSP00000353854:P432H;ENSP00000378438:P432H	ENSP00000353854:P432H	P	+	2	0	C15orf39	73286737	0.005000	0.15991	0.436000	0.26797	0.255000	0.26057	0.529000	0.23019	2.280000	0.76307	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	1	0	1	66	380	0	89	1	9.963371e-01	9	42	0	89	2		0	0	0	0	0	2	1	1	64	372	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C15orf39	56905	broad.mit.edu	37	15	75499830	75499830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499830C>T	ENST00000360639.2	+	2	1761	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39			16					CCCCTGTGCCCGGGAGTGCCA	0.637000																								0							SO:0001583	missense			ENST00000360639.2	1	1	hg19	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999260	0.35226	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65916	-0.18;-0.18	5.2	0.504	0.16946	.	1.000980	0.08061	N	0.998225	T	0.42630	0.1211	N	0.08118	0	0.23966	N	0.996329	D	0.60160	0.987	B	0.43783	0.431	T	0.38779	-0.9645	10	0.72032	D	0.01	-2.613	8.491	0.33100	0.4953:0.3806:0.1241:0.0	.	481	Q6ZRI6	CO039_HUMAN	W	481	ENSP00000353854:R481W;ENSP00000378438:R481W	ENSP00000353854:R481W	R	+	1	2	C15orf39	73286883	0.005000	0.15991	0.942000	0.38095	0.602000	0.36980	0.424000	0.21330	0.533000	0.28675	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	1	0	0	40	433	0	87	1	9.911306e-01	5	75	0	87	2		0	0	0	0	0	2	1	1	39	419	0	84	2								-2.744762	1	1	121412	1	29	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.980000	0.720000	1.000000	1.000000	0.940863	0.980000	1	8.400000e-01	1
C15orf39	56905	broad.mit.edu	37	15	75500244	75500244	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500244A>G	ENST00000360639.2	+	2	2175	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E|C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39			16					GCCAGGCCTGAAAAAGATAGA	0.567000																								0							SO:0001583	missense			ENST00000360639.2	1	1	hg19	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966688	0.53507	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.81078	-1.45;-1.45	4.89	1.0	0.19881	.	0.441548	0.22792	N	0.055595	T	0.59004	0.2162	N	0.21448	0.665	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.003;0.004	T	0.33828	-0.9853	10	0.09590	T	0.72	-0.4539	3.9376	0.09313	0.3225:0.3998:0.2777:0.0	.	181;619	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	E	619;619;17	ENSP00000353854:K619E;ENSP00000378438:K619E	ENSP00000353854:K619E	K	+	1	0	C15orf39	73287297	0.030000	0.19436	0.020000	0.16555	0.782000	0.44232	1.660000	0.37397	0.193000	0.20303	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	1	0	1	49	192	0	41	1	9.999465e-01	11	50	0	41	2		0	0	0	0	0	2	1	1	46	188	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C15orf39	56905	broad.mit.edu	37	15	75500779	75500779	+	Missense_Mutation	SNP	C	C	A	rs139185840	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500779C>A	ENST00000360639.2	+	2	2710	c.2390C>A	c.(2389-2391)gCt>gAt	p.A797D	C15orf39_ENST00000394987.4_Missense_Mutation_p.A797D|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000567617.1_Missense_Mutation_p.A797D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39			16					CTAGAGACGGCTGGGCCCTGG	0.637000																								0							SO:0001583	missense			ENST00000360639.2	1	0	hg19	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	8.265	0.812139	0.16537	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38722	1.12;1.12	5.37	4.43	0.53597	.	0.689440	0.14516	N	0.314744	T	0.40979	0.1139	L	0.50333	1.59	0.09310	N	1	B;B	0.33637	0.42;0.42	B;B	0.35240	0.087;0.198	T	0.35525	-0.9785	10	0.66056	D	0.02	-3.4692	12.5436	0.56186	0.1794:0.8206:0.0:0.0	.	359;797	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	D	797;797;195	ENSP00000353854:A797D;ENSP00000378438:A797D	ENSP00000353854:A797D	A	+	2	0	C15orf39	73287832	0.002000	0.14202	0.005000	0.12908	0.085000	0.17905	1.330000	0.33781	1.174000	0.42811	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	1	0	1	14	59	0	16	1	9.997592e-01	16	52	0	16	2		0	0	0	0	0	2	1	9.998238e-01	14	57	0	15	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999402	0.990000	1	9.900000e-01	1
MAN2C1	4123	broad.mit.edu	37	15	75653521	75653521	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75653521G>A	ENST00000267978.5	-	12	1372	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000563622.1_Silent_p.T343T|MAN2C1_ENST00000569482.1_Silent_p.T442T|MAN2C1_ENST00000565683.1_Silent_p.T442T	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1			44					TGTTGGCCACGGTCTTCAGCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000267978.5	1	1	hg19	CCDS32298.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1	1	0	1	13	87	0	25	1	9.998939e-01	22	96	0	25	2		0	0	0	0	0	2	1	9.996325e-01	12	87	0	25	2								-3.161608	1	1	121396	7	35	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.850000	1.000000	1.000000	0.991081	0.990000	1	9.900000e-01	1
SIN3A	25942	broad.mit.edu	37	15	75682033	75682033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75682033G>T	ENST00000394947.3	-	16	3295	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D	SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D|SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A			63					CATGGTAAAGGCAATGTAGGC	0.498000																								0							SO:0001583	missense			ENST00000394947.3	1	1	hg19	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783921	0.90282	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47869	0.83;0.83;0.83	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.73962	2.25	0.80722	D	1	P	0.49358	0.923	P	0.51615	0.675	T	0.63915	-0.6529	10	0.48119	T	0.1	-15.6064	18.4191	0.90582	0.0:0.0:1.0:0.0	.	994	Q96ST3	SIN3A_HUMAN	D	994	ENSP00000378402:A994D;ENSP00000378403:A994D;ENSP00000353622:A994D	ENSP00000353622:A994D	A	-	2	0	SIN3A	73469086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.801000	0.85960	2.592000	0.87571	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	1	0	1	74	355	0	99	1	1	39	97	0	99	2		0	0	0	0	0	2	1	1	71	343	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIN3A	25942	broad.mit.edu	37	15	75684615	75684615	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684615C>A	ENST00000394947.3	-	15	3133	c.2819G>T	c.(2818-2820)aGc>aTc	p.S940I	SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I|SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A			63					AATGGCAGGGCTGTCACTCTT	0.502000																								0							SO:0001583	missense			ENST00000394947.3	1	1	hg19	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951296	0.73787	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.48201	0.82;0.82;0.82	5.79	5.79	0.91817	.	0.036039	0.85682	D	0.000000	T	0.55705	0.1937	M	0.61703	1.905	0.80722	D	1	P	0.45474	0.859	P	0.46543	0.52	T	0.54675	-0.8258	10	0.45353	T	0.12	-19.3019	19.0195	0.92908	0.0:1.0:0.0:0.0	.	940	Q96ST3	SIN3A_HUMAN	I	940	ENSP00000378402:S940I;ENSP00000378403:S940I;ENSP00000353622:S940I	ENSP00000353622:S940I	S	-	2	0	SIN3A	73471668	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.715000	0.61909	2.746000	0.94184	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	1	0	1	177	654	0	147	1	1	25	81	0	147	2		0	0	0	0	0	2	1	1	174	644	0	144	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIN3A	25942	broad.mit.edu	37	15	75684652	75684652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684652G>A	ENST00000394947.3	-	15	3096	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A			63					AGCACTTCCCGTTCCCATTCT	0.502000																								0							SO:0001583	missense			ENST00000394947.3	1	1	hg19	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703670	0.68501	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.50001	0.76;0.76;0.76	5.6	4.68	0.58851	.	0.048289	0.85682	D	0.000000	T	0.66157	0.2761	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69847	-0.5034	10	0.87932	D	0	-13.6199	12.4793	0.55833	0.0:0.0:0.5775:0.4225	.	928	Q96ST3	SIN3A_HUMAN	W	928	ENSP00000378402:R928W;ENSP00000378403:R928W;ENSP00000353622:R928W	ENSP00000353622:R928W	R	-	1	2	SIN3A	73471705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.062000	0.49971	1.362000	0.46000	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	1	0	1	149	684	0	153	1	1	38	98	0	153	2		0	0	0	0	0	2	1	1	148	675	0	153	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX33	257364	broad.mit.edu	37	15	75942240	75942240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942240G>A	ENST00000308527.5	+	1	1994	c.797G>A	c.(796-798)cGc>cAc	p.R266H	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	p.R266H(1)		19					GTCTACCGGCGCTACAAACAC	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000308527.5	0	1	hg19	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448401	0.43429	.	.	ENSG00000173548	ENST00000308527	T	0.55052	0.54	5.42	5.42	0.78866	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83394	0.5245	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89689	0.3896	10	0.87932	D	0	-7.8478	17.7863	0.88539	0.0:0.0:1.0:0.0	.	266	Q8WV41	SNX33_HUMAN	H	266	ENSP00000311427:R266H	ENSP00000311427:R266H	R	+	2	0	SNX33	73729295	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.867000	0.99620	2.543000	0.85770	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	0	0	0	19	946	0	222	1	7.218016e-01	4	123	0	222	2		0	0	0	0	0	2	1	7.224066e-01	19	918	1	222	16								-2.321734	0	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.230000	0.140000	0.350000	0.230000	0.241032	0.230000	0	1.800000e-01	2.900000e-01
SNX33	257364	broad.mit.edu	37	15	75942569	75942569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942569G>A	ENST00000308527.5	+	1	2323	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33			19					GGACGTGGAAGATCGCGTGGA	0.592000																								0							SO:0001583	missense			ENST00000308527.5	1	1	hg19	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766693	0.49574	.	.	ENSG00000173548	ENST00000308527	T	0.42131	0.98	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.052515	0.85682	D	0.000000	T	0.32912	0.0845	N	0.14661	0.345	0.58432	D	0.999998	B;B	0.24043	0.096;0.096	B;B	0.30401	0.115;0.115	T	0.10847	-1.0612	10	0.40728	T	0.16	-20.2346	18.3366	0.90290	0.0:0.0:1.0:0.0	.	376;376	B1NM17;Q8WV41	.;SNX33_HUMAN	N	376	ENSP00000311427:D376N	ENSP00000311427:D376N	D	+	1	0	SNX33	73729624	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.867000	0.99620	2.586000	0.87340	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	0	0	0	9	353	0	69	1	8.433345e-01	3	131	0	69	2		0	0	0	0	0	2	1	9.939900e-01	9	348	0	69	2								-3.775501	1	0	121346	248	52	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.300000	0.140000	0.520000	0.290000	0.317392	0.300000	0	2.100000e-01	4.100000e-01
SNX33	257364	broad.mit.edu	37	15	75942572	75942572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942572C>T	ENST00000308527.5	+	1	2326	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33			19					CGTGGAAGATCGCGTGGACAC	0.592000																								0							SO:0001583	missense			ENST00000308527.5	1	1	hg19	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813202	0.32053	.	.	ENSG00000173548	ENST00000308527	T	0.50548	0.74	5.48	5.48	0.80851	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.65899	-0.6056	10	0.87932	D	0	-10.5611	13.3236	0.60447	0.1579:0.8421:0.0:0.0	.	377;377	B1NM17;Q8WV41	.;SNX33_HUMAN	C	377	ENSP00000311427:R377C	ENSP00000311427:R377C	R	+	1	0	SNX33	73729627	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.002000	0.49496	2.586000	0.87340	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	1	0	1	74	280	0	63	1	1	29	110	0	63	2		0	0	0	0	0	2	1	1	72	277	0	62	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX33	257364	broad.mit.edu	37	15	75949349	75949349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75949349C>T	ENST00000308527.5	+	2	2715	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33			19					GTGACGAGGGCCGCATGGTGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000308527.5	1	1	hg19	CCDS10283.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	1	0	1	44	203	0	39	1	9.999989e-01	27	73	0	39	2		0	0	0	0	0	2	1	1	44	199	0	39	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSPG4	1464	broad.mit.edu	37	15	75969039	75969039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75969039C>T	ENST00000308508.5	-	10	5913	c.5821G>A	c.(5821-5823)Gcc>Acc	p.A1941T	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					ACCTCGATGGCGGATGGTAGG	0.662000																								0							SO:0001583	missense			ENST00000308508.5	1	1	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.434673	0.01108	.	.	ENSG00000173546	ENST00000308508	T	0.15372	2.43	5.04	-5.44	0.02624	.	0.966971	0.08531	N	0.932103	T	0.06371	0.0164	N	0.12961	0.28	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.39800	-0.9596	10	0.18710	T	0.47	.	1.8144	0.03097	0.1936:0.3577:0.0923:0.3563	.	1941	Q6UVK1	CSPG4_HUMAN	T	1941	ENSP00000312506:A1941T	ENSP00000312506:A1941T	A	-	1	0	CSPG4	73756094	0.000000	0.05858	0.008000	0.14137	0.038000	0.13279	-1.125000	0.03257	-0.697000	0.05092	-0.228000	0.12330	GCC		TCGA-IB-7651-01A-11D-2154-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	0	76	348	0	64	0	9.510477e-01	1	24	0	64	2		0	0	0	0	0	2	1	1	76	344	0	63	2								-3.293019	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSPG4	1464	broad.mit.edu	37	15	75975290	75975290	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75975290C>T	ENST00000308508.5	-	6	4634	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					TGCTGGGCTGCTCGATGGTGT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000308508.5	1	1	hg19	CCDS10284.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1	45	147	0	25	0	7.187043e-01	0	10	0	25	2		0	0	0	0	0	2	1	1	44	145	0	25	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSPG4	1464	broad.mit.edu	37	15	75980460	75980460	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980460A>G	ENST00000308508.5	-	3	3038	c.2946T>C	c.(2944-2946)gaT>gaC	p.D982D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					ATGGGATATCATCTTCTGTGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000308508.5	1	1	hg19	CCDS10284.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	0	133	546	0	153	0	8.905462e-01	0	18	0	153	2		0	0	0	0	0	2	1	1	131	529	0	153	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSPG4	1464	broad.mit.edu	37	15	75980750	75980750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980750G>A	ENST00000308508.5	-	3	2748	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					AAGGTATAGAGTGGGGAGAAA	0.602000																								0							SO:0001583	missense			ENST00000308508.5	1	1	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	3.860	-0.030019	0.07543	.	.	ENSG00000173546	ENST00000308508	T	0.20069	2.1	5.02	3.12	0.35913	.	0.228408	0.29225	N	0.012762	T	0.23014	0.0556	L	0.56769	1.78	0.22851	N	0.998654	P	0.42409	0.779	B	0.42462	0.388	T	0.07443	-1.0772	10	0.56958	D	0.05	.	9.0331	0.36271	0.0835:0.4142:0.5023:0.0	.	886	Q6UVK1	CSPG4_HUMAN	F	886	ENSP00000312506:L886F	ENSP00000312506:L886F	L	-	1	0	CSPG4	73767805	0.109000	0.22037	0.492000	0.27490	0.155000	0.21991	0.496000	0.22499	0.499000	0.27970	-0.145000	0.13849	CTC		TCGA-IB-7651-01A-11D-2154-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1	52	248	0	56	0	9.418436e-01	1	24	0	56	2		0	0	0	0	0	2	1	1	50	238	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSPG4	1464	broad.mit.edu	37	15	75981045	75981045	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981045C>T	ENST00000308508.5	-	3	2453	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					GCTCCAGCCGCAGCATCCACA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000308508.5	0	1	hg19	CCDS10284.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	0	0	0	8	280	0	50	0	8.136446e-02	0	15	0	50	2		0	0	0	0	0	2	1	9.876798e-01	8	268	0	47	2								-9.273811	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.330000	0.150000	0.600000	0.310000	0.357258	0.330000	0	2.300000e-01	4.700000e-01
CSPG4	1464	broad.mit.edu	37	15	75981567	75981567	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981567C>T	ENST00000308508.5	-	3	1931	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					AGAACTCGGTCGCCGGCTCCC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000308508.5	1	1	hg19	CCDS10284.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1	34	173	0	36	0	5.141410e-01	0	10	0	36	2		0	0	0	0	0	2	1	1	33	167	0	35	2								-20.000000	1	1	120894	33	41	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
CSPG4	1464	broad.mit.edu	37	15	75981992	75981992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981992C>T	ENST00000308508.5	-	3	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					CCTCGGGTCACGCTGAACAGC	0.662000																								0							SO:0001583	missense			ENST00000308508.5	1	1	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889935	0.33348	.	.	ENSG00000173546	ENST00000308508	T	0.24350	1.86	5.12	4.14	0.48551	.	0.246882	0.28062	N	0.016759	T	0.35653	0.0939	L	0.56769	1.78	0.18873	N	0.999981	D	0.65815	0.995	P	0.54965	0.765	T	0.15321	-1.0441	10	0.72032	D	0.01	.	8.3235	0.32142	0.0:0.7519:0.1604:0.0877	.	472	Q6UVK1	CSPG4_HUMAN	M	472	ENSP00000312506:V472M	ENSP00000312506:V472M	V	-	1	0	CSPG4	73769047	0.989000	0.36119	0.993000	0.49108	0.113000	0.19764	2.504000	0.45416	2.375000	0.81037	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1	96	685	0	158	0	4.474336e-01	0	12	0	158	2		0	0	0	0	0	2	1	1	95	666	0	161	2								-20.000000	1	1	121364	7	39	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
CSPG4	1464	broad.mit.edu	37	15	75982969	75982969	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75982969A>G	ENST00000308508.5	-	3	529	c.437T>C	c.(436-438)cTc>cCc	p.L146P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					CCCAACAAAGAGCCCATAGGG	0.647000																								0							SO:0001583	missense			ENST00000308508.5	0	1	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684992	0.68157	.	.	ENSG00000173546	ENST00000308508	D	0.83837	-1.77	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.640591	0.14356	N	0.324763	D	0.90045	0.6891	M	0.82823	2.61	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	D	0.90553	0.4510	10	0.87932	D	0	.	13.4697	0.61276	1.0:0.0:0.0:0.0	.	146	Q6UVK1	CSPG4_HUMAN	P	146	ENSP00000312506:L146P	ENSP00000312506:L146P	L	-	2	0	CSPG4	73770024	1.000000	0.71417	0.991000	0.47740	0.772000	0.43724	8.904000	0.92590	1.873000	0.54277	0.454000	0.30748	CTC		TCGA-IB-7651-01A-11D-2154-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	0	0	0	12	310	0	62	0	7.232160e-02	0	11	0	62	2		0	0	0	0	0	2	1	9.990215e-01	11	303	0	63	2								-13.373880	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.440000	0.240000	0.710000	0.430000	0.462730	0.440000	0	3.300000e-01	5.800000e-01
C15orf27	123591	broad.mit.edu	37	15	76484318	76484318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76484318C>T	ENST00000388942.3	+	9	1054	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27			13					GTTTGAGATCCGGCAGCTGCG	0.736000																								0							SO:0001583	missense			ENST00000388942.3	1	1	hg19	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780264	0.49891	.	.	ENSG00000169758	ENST00000388942	T	0.35048	1.33	4.58	3.58	0.41010	.	0.114885	0.56097	D	0.000038	T	0.53546	0.1803	M	0.66939	2.045	0.49915	D	0.999836	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.917	T	0.56257	-0.8009	10	0.72032	D	0.01	-15.5283	9.394	0.38390	0.3178:0.6821:0.0:0.0	.	224;260	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	W	260	ENSP00000373594:R260W	ENSP00000373594:R260W	R	+	1	2	C15orf27	74271373	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.662000	0.46766	2.097000	0.63578	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	1	0	0	24	130	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	9.999998e-01	24	128	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999784	0.990000	1	9.900000e-01	1
ISL2	64843	broad.mit.edu	37	15	76630302	76630302	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76630302A>G	ENST00000290759.4	+	2	402	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2			6					AAGCGGGACTATGTCAGGTGA	0.731000													GBM(97;953 1391 16164 31496 36951)											0							SO:0001583	missense			ENST00000290759.4	1	1	hg19	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140328	0.77775	.	.	ENSG00000159556	ENST00000290759	D	0.93763	-3.28	4.58	4.58	0.56647	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.98633	1.0672	10	0.87932	D	0	.	12.8378	0.57784	1.0:0.0:0.0:0.0	.	81	Q96A47	ISL2_HUMAN	C	81	ENSP00000290759:Y81C	ENSP00000290759:Y81C	Y	+	2	0	ISL2	74417357	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.190000	0.77755	1.712000	0.51347	0.248000	0.18094	TAT		TCGA-IB-7651-01A-11D-2154-08	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1	1	0	0	51	241	0	38	0	2.171216e-01	0	5	0	38	2		0	0	0	0	0	2	1	1	51	240	0	38	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAPER	49855	broad.mit.edu	37	15	76696915	76696915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76696915G>A	ENST00000563290.1	-	27	3512	c.3417C>T	c.(3415-3417)gcC>gcT	p.A1139A	SCAPER_ENST00000538941.2_Silent_p.A893A|SCAPER_ENST00000324767.7_Silent_p.A1139A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER			39					AGAGTCCTGCGGCATGCTGCA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000563290.1	1	1	hg19	CCDS53962.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	1	0	1	103	556	0	152	1	9.676861e-01	6	26	0	152	2		0	0	0	0	0	2	1	1	100	545	0	151	2								-2.717694	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAPER	49855	broad.mit.edu	37	15	77064232	77064232	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77064232T>G	ENST00000563290.1	-	10	1194	c.1099A>C	c.(1099-1101)Act>Cct	p.T367P	SCAPER_ENST00000538941.2_Missense_Mutation_p.T121P|SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER			39					ATTTCAGAAGTTCGAACATAA	0.363000																								0							SO:0001583	missense			ENST00000563290.1	1	1	hg19	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	6.729	0.503271	0.12822	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.26660	1.83;1.72	5.11	1.21	0.21127	.	0.674263	0.15665	N	0.250695	T	0.20861	0.0502	M	0.65975	2.015	0.19945	N	0.999945	B;B;B	0.31040	0.305;0.002;0.001	B;B;B	0.31614	0.133;0.001;0.001	T	0.20472	-1.0274	10	0.33141	T	0.24	.	0.9449	0.01363	0.1512:0.2691:0.1568:0.4229	.	367;382;121	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	P	367;121;383	ENSP00000326924:T367P;ENSP00000442190:T121P	ENSP00000303560:T383P	T	-	1	0	SCAPER	74851287	0.008000	0.16893	0.154000	0.22540	0.131000	0.20780	0.008000	0.13197	0.351000	0.24027	0.477000	0.44152	ACT		TCGA-IB-7651-01A-11D-2154-08	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	1	0	0	39	378	0	85	1	6.025885e-01	5	15	0	85	2		0	0	0	0	0	2	1	1	38	374	0	85	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.790000	1.000000	1.000000	0.975166	0.990000	1	9.300000e-01	1
PSTPIP1	9051	broad.mit.edu	37	15	77325208	77325208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77325208G>A	ENST00000558012.1	+	12	1333	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1			9					TGCAGCTCCGGTGCCCTACCA	0.647000																								0							SO:0001583	missense			ENST00000558012.1	0	1	hg19	CCDS45312.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503751	0.44558	.	.	ENSG00000140368	ENST00000379595	T	0.46819	0.86	4.34	3.41	0.39046	.	0.504438	0.20542	N	0.090290	T	0.30135	0.0755	L	0.36672	1.1	0.80722	D	1	P	0.44986	0.847	B	0.35931	0.214	T	0.04650	-1.0936	10	0.33940	T	0.23	-25.3733	7.2166	0.25963	0.1182:0.0:0.8818:0.0	.	282	O43586	PPIP1_HUMAN	M	282	ENSP00000368914:V282M	ENSP00000368914:V282M	V	+	1	0	PSTPIP1	75112263	0.883000	0.30277	0.997000	0.53966	0.601000	0.36947	1.653000	0.37323	2.357000	0.79964	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	1	0	1	14	26	0	12	0	9.912552e-01	0	19	0	12	2		0	0	0	0	0	2	1	9.998835e-01	13	25	0	12	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999968	0.990000	1	9.900000e-01	1
HMG20A	10363	broad.mit.edu	37	15	77769918	77769918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77769918C>T	ENST00000381714.3	+	8	1065	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A			18					GGTAAAGGAACGGTCTGTTTT	0.333000																								0							SO:0001583	missense			ENST00000381714.3	1	1	hg19	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446283	0.63178	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.69435	-0.4;-0.4	6.04	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.60455	1.87	0.58432	D	0.999999	D	0.71674	0.998	P	0.60286	0.872	T	0.73263	-0.4038	10	0.37606	T	0.19	-15.2639	12.498	0.55940	0.561:0.439:0.0:0.0	.	213	Q9NP66	HM20A_HUMAN	W	213	ENSP00000336856:R213W;ENSP00000371133:R213W	ENSP00000336856:R213W	R	+	1	2	HMG20A	75556973	1.000000	0.71417	0.908000	0.35775	0.993000	0.82548	3.834000	0.55798	1.525000	0.49052	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	1	0	0	7	166	0	30	1	7.904208e-01	2	68	0	30	2		0	0	0	0	0	2	1	9.800607e-01	7	163	0	30	2								-9.394309	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.490000	0.220000	0.890000	0.460000	0.519001	0.490000	0	3.300000e-01	6.900000e-01
LINGO1	84894	broad.mit.edu	37	15	77907931	77907931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77907931G>A	ENST00000355300.6	-	2	492	c.318C>T	c.(316-318)atC>atT	p.I106I	LINGO1_ENST00000561030.1_Silent_p.I100I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1			31					CGGCGCTCACGATGTTCTCGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000355300.6	0	1	hg19	CCDS45313.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	1	0	1	11	88	0	11	0	3.785013e-01	0	11	0	11	2		0	0	0	0	0	2	1	9.983003e-01	11	84	0	11	2								-7.636344	1	1	120968	5	35	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.700000	1.000000	1.000000	0.971316	0.990000	1	9.500000e-01	1
TBC1D2B	23102	broad.mit.edu	37	15	78290595	78290595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78290595G>A	ENST00000300584.3	-	13	2798	c.2799C>T	c.(2797-2799)acC>acT	p.T933T	TBC1D2B_ENST00000409931.3_3'UTR|RP11-114H24.6_ENST00000562716.1_RNA|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B			26					CCTCCAGCTCGGTCAGCTCCA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000300584.3	0	1	hg19	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	g	0.387	-0.925472	0.02377	.	.	ENSG00000167202	ENST00000418039	.	.	.	4.48	-8.97	0.00758	.	.	.	.	.	T	0.33294	0.0858	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39210	-0.9625	4	.	.	.	.	1.3117	0.02099	0.1662:0.183:0.2526:0.3982	.	.	.	.	L	815	.	.	P	-	2	0	TBC1D2B	76077650	0.000000	0.05858	0.761000	0.31378	0.066000	0.16364	-5.413000	0.00124	-1.951000	0.01029	-1.544000	0.00907	CCG		TCGA-IB-7651-01A-11D-2154-08	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	0	0	0	4	51	0	11	1	9.907494e-01	10	123	0	11	2		0	0	0	0	0	2	1	8.839921e-01	4	49	0	11	2								-8.653572	1	1	121004	9	34	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.870000	0.310000	1.000000	1.000000	0.807224	0.870000	1	5.400000e-01	1
TBC1D2B	23102	broad.mit.edu	37	15	78305387	78305387	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78305387A>C	ENST00000300584.3	-	9	2047	c.2048T>G	c.(2047-2049)tTc>tGc	p.F683C	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.F683C	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B			26					GTTGTCCTTGAACTTCCTGGT	0.557000																								0							SO:0001583	missense			ENST00000300584.3	1	1	hg19	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.32|16.32	3.089766|3.089766	0.55968|0.55968	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.11495|.	2.77;2.77|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Rab-GAP/TBC domain (4);|.	0.207578|.	0.51477|.	D|.	0.000086|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.41492|0.41492	1.28|1.28	0.48511|0.48511	D|D	0.999667|0.999667	D;P;D|.	0.63880|.	0.992;0.88;0.993|.	P;P;P|.	0.60173|.	0.794;0.694;0.87|.	T|T	0.56601|0.56601	-0.7952|-0.7952	10|5	0.56958|.	D|.	0.05|.	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	683;135;683|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	C|A	683|565	ENSP00000387165:F683C;ENSP00000300584:F683C|.	ENSP00000300584:F683C|.	F|S	-|-	2|1	0|0	TBC1D2B|TBC1D2B	76092442|76092442	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.296000|0.296000	0.27459|0.27459	5.797000|5.797000	0.69087|0.69087	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TTC|TCA		TCGA-IB-7651-01A-11D-2154-08	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	1	0	1	29	154	0	36	1	1	6	158	0	36	2		0	0	0	0	0	2	1	1	28	152	0	36	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
TBC1D2B	23102	broad.mit.edu	37	15	78316861	78316861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78316861C>T	ENST00000300584.3	-	6	1106	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q	TBC1D2B_ENST00000409931.3_Silent_p.Q369Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B			26					GGACTGTCTGCTGGAGCAGTC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000300584.3	0	1	hg19	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	9.845	1.191961	0.21954	.	.	ENSG00000167202	ENST00000418039	.	.	.	5.55	1.5	0.22942	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52079	-0.8623	4	.	.	.	.	9.9733	0.41768	0.0:0.7174:0.0:0.2826	.	.	.	.	N	251	.	.	S	-	2	0	TBC1D2B	76103916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.866000	0.39489	0.291000	0.22468	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	0	0	0	49	203	0	58	1	9.999990e-01	6	84	0	58	2		0	0	0	0	0	2	1	1	49	199	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D2B	23102	broad.mit.edu	37	15	78322507	78322507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78322507G>A	ENST00000300584.3	-	4	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.S230L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B			26					AGAAGACATCGAATTCCTGTT	0.353000																								0							SO:0001583	missense			ENST00000300584.3	1	1	hg19	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.453516|3.453516	0.63290|0.63290	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.10763	.|2.84;2.84	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.135418	.|0.51477	.|D	.|0.000098	.|T	.|0.33904	.|0.0879	M|M	0.75447|0.75447	2.3|2.3	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.69307	.|0.963;0.909	.|T	.|0.09952	.|-1.0651	.|10	.|0.87932	.|D	.|0	.|.	17.4355|17.4355	0.87550|0.87550	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|230;230	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	X|L	112|230;230;118	.|ENSP00000387165:S230L;ENSP00000300584:S230L	.|ENSP00000300584:S230L	R|S	-|-	1|2	2|0	TBC1D2B|TBC1D2B	76109562|76109562	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.583000|0.583000	0.36354|0.36354	5.682000|5.682000	0.68182|0.68182	2.350000|2.350000	0.79820|0.79820	0.467000|0.467000	0.42956|0.42956	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	1	0	1	18	87	0	28	1	9.999994e-01	5	133	0	28	2		0	0	0	0	0	2	1	9.999892e-01	18	86	0	28	2								-3.449949	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999620	0.990000	1	9.900000e-01	1
CIB2	10518	broad.mit.edu	37	15	78398138	78398138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398138C>T	ENST00000258930.3	-	5	813	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CIB2_ENST00000560618.1_Missense_Mutation_p.G119D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D|CIB2_ENST00000557846.1_Missense_Mutation_p.G113D	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2			11					GCCCAGCTTGCCGTCACCGTC	0.617000																								0							SO:0001583	missense			ENST00000258930.3	1	1	hg19	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025649	0.75390	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	D;D	0.83837	-1.77;-1.77	5.59	4.67	0.58626	EF-hand-like domain (1);	0.239373	0.43110	D	0.000604	D	0.91650	0.7361	M	0.91818	3.245	0.54753	D	0.999986	D;B	0.69078	0.997;0.439	D;B	0.63957	0.92;0.328	D	0.92658	0.6139	10	0.54805	T	0.06	-22.6145	13.2955	0.60294	0.0:0.9243:0.0:0.0757	.	162;162	B4DDF0;O75838	.;CIB2_HUMAN	D	162;119	ENSP00000258930:G162D;ENSP00000442459:G119D	ENSP00000258930:G162D	G	-	2	0	CIB2	76185193	1.000000	0.71417	0.994000	0.49952	0.852000	0.48524	3.234000	0.51320	1.364000	0.46038	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	1	0	1	73	260	0	70	1	9.999990e-01	24	51	0	70	2		0	0	0	0	0	2	1	1	70	254	0	69	2								-4.065743	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398176G>A	ENST00000258930.3	-	5	775	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CIB2_ENST00000560618.1_Silent_p.C106C|CIB2_ENST00000539011.1_Silent_p.C106C|CIB2_ENST00000557846.1_Silent_p.C100C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	p.C149C(1)		11					TGACCTTGTCGCACACAAGCA	0.567000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000258930.3	1	1	hg19	CCDS10296.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	1	0	1	35	377	0	63	1	9.931338e-01	16	69	0	63	2		0	0	0	0	0	2	1	1	34	367	0	63	2								-3.017764	1	0	121412	8	44	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.700000	1.000000	1.000000	0.939560	0.990000	1	8.400000e-01	1
CIB2	10518	broad.mit.edu	37	15	78403609	78403609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78403609C>T	ENST00000258930.3	-	3	424	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000557846.1_Intron	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2			11					CATAGAATCGCGAATGCAGCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000258930.3	1	1	hg19	CCDS10296.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	1	0	0	57	276	0	59	1	8.922276e-01	5	16	0	59	2		0	0	0	0	0	2	1	1	55	271	0	57	2								-20.000000	1	1	121412	3	36	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IDH3A	3419	broad.mit.edu	37	15	78454048	78454048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78454048G>A	ENST00000299518.2	+	5	498	c.415G>A	c.(415-417)Gat>Aat	p.D139N	IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha			12					CCCTTACACCGATGTAAATAT	0.423000																								0							SO:0001583	missense			ENST00000299518.2	1	1	hg19	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828324	0.32329	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.54866	0.55;0.55	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.11927	0.2	0.80722	D	1	B;B	0.18013	0.025;0.008	B;B	0.23574	0.047;0.014	T	0.28235	-1.0050	10	0.02654	T	1	-31.065	19.5254	0.95203	0.0:0.0:1.0:0.0	.	104;139	B4DSY4;P50213	.;IDH3A_HUMAN	N	139;30	ENSP00000299518:D139N;ENSP00000387506:D30N	ENSP00000299518:D139N	D	+	1	0	IDH3A	76241103	1.000000	0.71417	0.730000	0.30809	0.862000	0.49288	9.594000	0.98254	2.857000	0.98124	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	1	0	1	165	673	0	177	1	1	40	126	0	177	2		0	0	0	0	0	2	1	1	163	663	0	176	2								-3.382720	1	1	121412	1	37	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IDH3A	3419	broad.mit.edu	37	15	78458537	78458537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78458537C>A	ENST00000299518.2	+	10	993	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha			12					CATGGCGAATCCCACAGCCCT	0.507000																								0							SO:0001583	missense			ENST00000299518.2	1	1	hg19	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217635	0.95104	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	D;D	0.81996	-1.56;-1.56	5.7	5.7	0.88788	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97303	0.9932	10	0.87932	D	0	-16.5781	18.8361	0.92164	0.0:1.0:0.0:0.0	.	269;254;304	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	T	304;195	ENSP00000299518:P304T;ENSP00000387506:P195T	ENSP00000299518:P304T	P	+	1	0	IDH3A	76245592	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.741000	0.84997	2.681000	0.91329	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	0	0	1	122	513	1	107	1	1	50	143	1	107	8		0	0	0	0	0	2	1	1	121	503	1	107	19								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSBG1	23205	broad.mit.edu	37	15	78466006	78466006	+	Missense_Mutation	SNP	G	G	A	rs11072735	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78466006G>A	ENST00000258873.4	-	13	2223	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	ACSBG1_ENST00000541759.1_Missense_Mutation_p.A431V|ACSBG1_ENST00000560817.1_Missense_Mutation_p.A431V	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1			37					GGGCCGGGCCGCCGCGTTCAT	0.567000																								0							SO:0001583	missense			ENST00000258873.4	1	0	hg19	CCDS10298.1	119	0.05448717948717949	58	0.11788617886178862	9	0.024861878453038673	38	0.06643356643356643	14	0.018469656992084433	G	4.942	0.174970	0.09391	0.10724	0.015024	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.03831	3.79;3.79	5.35	4.43	0.53597	.	0.224065	0.37437	N	0.002091	T	0.00039	0.0001	N	0.01482	-0.84	0.09310	N	1	B;B	0.19706	0.038;0.011	B;B	0.12156	0.007;0.005	T	0.48210	-0.9055	10	0.02654	T	1	-9.3878	9.6131	0.39674	0.1571:0.0:0.8429:0.0	rs11072735;rs11072735	669;673	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	V	673;431	ENSP00000258873:A673V;ENSP00000439955:A431V	ENSP00000258873:A673V	A	-	2	0	ACSBG1	76253061	0.997000	0.39634	0.019000	0.16419	0.090000	0.18270	5.564000	0.67359	1.491000	0.48482	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	0	0	1	76	262	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	75	256	0	61	2								-1.293869	0	1	121412	3694	67	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSBG1	23205	broad.mit.edu	37	15	78474929	78474929	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78474929T>C	ENST00000258873.4	-	7	978	c.773A>G	c.(772-774)gAa>gGa	p.E258G	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1			37					CTCAGGCACTTCATTCCCCAG	0.617000																								0							SO:0001583	missense			ENST00000258873.4	1	1	hg19	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063865	0.36373	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10668	2.85;2.85	5.16	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.557117	0.18063	N	0.152890	T	0.08582	0.0213	L	0.34521	1.04	0.18873	N	0.999983	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.32981	-0.9886	10	0.23891	T	0.37	-1.6861	9.7706	0.40587	0.0:0.0821:0.0:0.9179	.	254;258	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	G	258;16	ENSP00000258873:E258G;ENSP00000439955:E16G	ENSP00000258873:E258G	E	-	2	0	ACSBG1	76261984	0.954000	0.32549	0.001000	0.08648	0.511000	0.34104	3.434000	0.52841	0.806000	0.34183	0.529000	0.55759	GAA		TCGA-IB-7651-01A-11D-2154-08	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	1	0	1	53	268	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	52	266	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSBG1	23205	broad.mit.edu	37	15	78475047	78475047	+	Splice_Site	SNP	C	C	T	rs138877360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78475047C>T	ENST00000258873.4	-	6	949	c.744G>A	c.(742-744)acG>acA	p.T248T	ACSBG1_ENST00000541759.1_Splice_Site_p.T6T|ACSBG1_ENST00000560817.1_Splice_Site_p.T6T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1			37					CTGCCCATACCGTGTACACAT	0.532000																								0							SO:0001630	splice_region_variant			ENST00000258873.4	1	0	hg19	CCDS10298.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	1	0	1	129	666	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1	128	659	0	155	2								-2.123068	0	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJA4	55466	broad.mit.edu	37	15	78557118	78557118	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78557118A>G	ENST00000394852.3	+	1	203	c.13A>G	c.(13-15)Acc>Gcc	p.T5A	DNAJA4_ENST00000394855.3_Missense_Mutation_p.T34A|RP11-762H8.3_ENST00000558971.1_RNA|DNAJA4_ENST00000343789.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A|DNAJA4_ENST00000446172.2_5'Flank|RP11-762H8.3_ENST00000559954.1_RNA	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4			8					GGTGAAGGAGACCCAGTACTA	0.697000																								0							SO:0001583	missense			ENST00000394852.3	0	1	hg19	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760177	0.49468	.	.	ENSG00000140403	ENST00000394855;ENST00000489435;ENST00000343789;ENST00000394852	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.65	4.65	0.58169	Heat shock protein DnaJ, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	N	0.25485	0.75	0.80722	D	1	D;D	0.71674	0.998;0.995	P;D	0.67725	0.858;0.953	T	0.74734	-0.3565	10	0.72032	D	0.01	-13.9376	9.8993	0.41338	0.8476:0.0:0.0:0.1524	.	5;34	Q8WW22;Q8WW22-2	DNJA4_HUMAN;.	A	34;34;5;5	ENSP00000378324:T34A;ENSP00000438263:T34A;ENSP00000339581:T5A;ENSP00000378321:T5A	ENSP00000339581:T5A	T	+	1	0	DNAJA4	76344173	1.000000	0.71417	0.825000	0.32803	0.009000	0.06853	6.644000	0.74338	1.739000	0.51704	0.455000	0.32223	ACC		TCGA-IB-7651-01A-11D-2154-08	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	0	0	0	10	59	0	18	1	9.824842e-01	22	23	0	18	2		0	0	0	0	0	2	1	9.974084e-01	10	58	0	18	2								-18.547090	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.840000	1.000000	1.000000	0.990983	0.990000	1	9.900000e-01	1
DNAJA4	55466	broad.mit.edu	37	15	78566680	78566680	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78566680G>A	ENST00000394852.3	+	4	750	c.560G>A	c.(559-561)cGc>cAc	p.R187H	DNAJA4_ENST00000394855.3_Missense_Mutation_p.R216H|DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R160H	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4			8					CAGGGTGAGCGCATCAACCCC	0.602000																								0							SO:0001583	missense			ENST00000394852.3	0	1	hg19	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912019	0.52439	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.63744	0.16;0.16;0.16;-0.06	5.63	4.71	0.59529	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.047080	0.85682	D	0.000000	T	0.61098	0.2320	M	0.74258	2.255	0.46011	D	0.998812	B;B;B;B	0.29212	0.211;0.07;0.237;0.093	B;B;B;B	0.27608	0.052;0.052;0.081;0.03	T	0.58853	-0.7563	10	0.16420	T	0.52	-2.4379	15.7352	0.77837	0.0:0.1366:0.8634:0.0	.	102;160;187;216	Q9P1H1;E9PDM9;Q8WW22;Q8WW22-2	.;.;DNJA4_HUMAN;.	H	216;187;187;160	ENSP00000378324:R216H;ENSP00000339581:R187H;ENSP00000378321:R187H;ENSP00000413499:R160H	ENSP00000339581:R187H	R	+	2	0	DNAJA4	76353735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.249000	0.65427	1.366000	0.46076	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	0	0	0	9	353	0	64	1	8.579385e-01	4	136	0	64	2		0	0	0	0	0	2	1	9.939900e-01	9	348	0	62	2								-2.743370	1	1	121412	2	39	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.300000	0.140000	0.520000	0.290000	0.317392	0.300000	0	2.100000e-01	4.100000e-01
WDR61	80349	broad.mit.edu	37	15	78585111	78585111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78585111G>T	ENST00000267973.2	-	5	437	c.166C>A	c.(166-168)Cta>Ata	p.L56I	WDR61_ENST00000558459.1_Intron|WDR61_ENST00000558311.1_Missense_Mutation_p.L56I|RP11-762H8.1_ENST00000560057.1_RNA			Q9GZS3	WDR61_HUMAN	WD repeat domain 61			9					CTCCACTGTAGGTCCAGCCTC	0.517000																								0							SO:0001583	missense			ENST00000267973.2	1	1	hg19	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036652	0.54896	.	.	ENSG00000140395	ENST00000267973	D	0.82255	-1.59	5.91	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	L	0.49640	1.575	0.80722	D	1	B;B	0.26809	0.068;0.16	B;B	0.32533	0.141;0.147	T	0.73251	-0.4042	10	0.33940	T	0.23	-4.9475	8.9529	0.35801	0.1003:0.0:0.7482:0.1514	.	56;56	B4E387;Q9GZS3	.;WDR61_HUMAN	I	56	ENSP00000267973:L56I	ENSP00000267973:L56I	L	-	1	2	WDR61	76372166	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.389000	0.73199	1.484000	0.48361	0.655000	0.94253	CTA		TCGA-IB-7651-01A-11D-2154-08	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	1	0	1	19	192	0	46	1	9.999998e-01	51	250	0	46	2		0	0	0	0	0	2	1	9.999900e-01	19	185	0	44	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.660000	1.000000	1.000000	0.943652	0.990000	1	8.400000e-01	1
CRABP1	1381	broad.mit.edu	37	15	78640310	78640310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78640310C>T	ENST00000299529.6	+	4	510	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1			6				Alitretinoin(DB00523)|Tretinoin(DB00755)	GAATTTATGTCCGAGAGTGAA	0.498000													Ovarian(146;578 3231 38536)											0							SO:0001819	synonymous_variant			ENST00000299529.6	1	1	hg19	CCDS10301.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	1	0	1	65	375	0	88	1	9.999940e-01	29	73	0	88	2		0	0	0	0	0	2	1	1	65	362	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IREB2	3658	broad.mit.edu	37	15	78780532	78780532	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78780532T>C	ENST00000258886.8	+	15	1954	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2			41					GGTGATTTGGTTACCTGTGGA	0.343000													NSCLC(200;764 2208 35157 49871 50830)											0							SO:0001583	missense			ENST00000258886.8	1	1	hg19	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557804	0.65425	.	.	ENSG00000136381	ENST00000258886	T	0.44881	0.91	5.05	5.05	0.67936	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.175846	0.49305	D	0.000148	T	0.51432	0.1674	M	0.86178	2.8	0.80722	D	1	P	0.45569	0.861	B	0.42214	0.38	T	0.62006	-0.6945	10	0.54805	T	0.06	.	14.8033	0.69932	0.0:0.0:0.0:1.0	.	602	P48200	IREB2_HUMAN	A	602	ENSP00000258886:V602A	ENSP00000258886:V602A	V	+	2	0	IREB2	76567587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.807000	0.86032	1.905000	0.55150	0.528000	0.53228	GTT		TCGA-IB-7651-01A-11D-2154-08	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	1	0	1	91	435	0	81	1	9.999855e-01	28	50	0	81	2		0	0	0	0	0	2	1	1	88	428	0	81	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMA4	5685	broad.mit.edu	37	15	78837253	78837253	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78837253G>A	ENST00000044462.7	+	6	480	c.330G>A	c.(328-330)ttG>ttA	p.L110L	PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000413382.2_Silent_p.L39L|PSMA4_ENST00000560217.1_Silent_p.L79L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4			9					GTGAGCAGTTGGTTACAGCGC	0.328000																								0							SO:0001819	synonymous_variant			ENST00000044462.7	1	1	hg19	CCDS10303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	1	0	1	53	237	0	63	1	1	121	418	0	63	2		0	0	0	0	0	2	1	1	53	233	0	63	2								-2.840482	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNA3	1136	broad.mit.edu	37	15	78893898	78893898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893898G>A	ENST00000326828.5	-	5	1470	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	CHRNA3_ENST00000348639.3_Silent_p.N362N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)			18				Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CGTTGCCCTCGTTGCTTGTTG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000326828.5	1	1	hg19	CCDS10305.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3	1	0	1	82	367	0	99	1	2.309685e-01	2	3	0	99	2		0	0	0	0	0	2	1	1	82	361	0	99	2								-20.000000	1	0	121412	4	37	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNB4	1143	broad.mit.edu	37	15	78921375	78921375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921375C>T	ENST00000261751.3	-	5	1383	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	p.V424V(1)		22				Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ATGCCTCCTGCACATCCTGTC	0.592000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000261751.3	1	1	hg19	CCDS10306.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	1	0	1	70	303	0	55	0	9.472544e-02	1	2	0	55	2		0	0	0	0	0	2	1	1	70	300	0	55	2								-20.000000	1	1	121412	1	29	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNB4	1143	broad.mit.edu	37	15	78921496	78921496	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921496C>A	ENST00000261751.3	-	5	1262	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)			22				Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CATGGAGTTCCCATAGAAGTT	0.647000																								0							SO:0001583	missense			ENST00000261751.3	1	1	hg19	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	4.005	-0.001711	0.07819	.	.	ENSG00000117971	ENST00000261751	T	0.69926	-0.44	5.3	0.0871	0.14449	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.56717	0.2004	M	0.62088	1.915	0.30273	N	0.792051	B	0.14805	0.011	B	0.21151	0.033	T	0.50303	-0.8844	9	0.25751	T	0.34	.	4.6321	0.12507	0.0:0.3665:0.1614:0.4721	.	384	P30926	ACHB4_HUMAN	V	384	ENSP00000261751:G384V	ENSP00000261751:G384V	G	-	2	0	CHRNB4	76708551	0.000000	0.05858	0.060000	0.19600	0.122000	0.20287	0.259000	0.18405	0.231000	0.21079	-0.136000	0.14681	GGG		TCGA-IB-7651-01A-11D-2154-08	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	1	0	1	45	202	0	34	0	0	1	0	0	34	2		0	0	0	0	0	2	1	1	43	193	0	32	2								-3.010570	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNB4	1143	broad.mit.edu	37	15	78923439	78923439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78923439G>T	ENST00000261751.3	-	4	449	c.338C>A	c.(337-339)cCt>cAt	p.P113H	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)			22				Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CACGATGTCAGGCAACCAGAT	0.592000																								0							SO:0001583	missense			ENST00000261751.3	0	1	hg19	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762921	0.89932	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.98567	-5.0;-5.0	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97969	1.0342	10	0.87932	D	0	.	18.6314	0.91361	0.0:0.0:1.0:0.0	.	113;113	E9PHE8;P30926	.;ACHB4_HUMAN	H	113	ENSP00000261751:P113H;ENSP00000416386:P113H	ENSP00000261751:P113H	P	-	2	0	CHRNB4	76710494	1.000000	0.71417	0.993000	0.49108	0.816000	0.46133	9.761000	0.98940	2.405000	0.81733	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	0	0	0	7	363	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.792844e-01	7	355	0	77	2								-4.199953	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.230000	0.100000	0.430000	0.220000	0.248528	0.230000	0	1.500000e-01	3.300000e-01
ADAMTS7	11173	broad.mit.edu	37	15	79058949	79058949	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79058949G>T	ENST00000388820.4	-	19	3514	c.3304C>A	c.(3304-3306)Cct>Act	p.P1102T	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7			54					GGCGCAGCAGGATGGCTGTGT	0.657000																								0							SO:0001583	missense			ENST00000388820.4	0	1	hg19	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	9.927	1.213878	0.22289	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	3.47	2.51	0.30379	.	0.313022	0.29987	N	0.010681	T	0.52484	0.1737	M	0.72894	2.215	0.09310	N	1	B	0.22346	0.068	B	0.19148	0.024	T	0.42882	-0.9425	10	0.28530	T	0.3	.	10.5915	0.45312	0.0:0.3802:0.6198:0.0	.	1102	Q9UKP4	ATS7_HUMAN	T	1102	ENSP00000373472:P1102T	ENSP00000373472:P1102T	P	-	1	0	ADAMTS7	76846004	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.030000	0.13688	0.521000	0.28445	0.574000	0.79327	CCT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	0	22	178	0	29	0	2.304457e-01	0	8	0	29	2		0	0	0	0	0	2	1	9.999978e-01	20	164	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.840000	1.000000	1.000000	0.988810	0.990000	1	9.900000e-01	1
ADAMTS7	11173	broad.mit.edu	37	15	79059345	79059345	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059345T>C	ENST00000388820.4	-	19	3118	c.2908A>G	c.(2908-2910)Acc>Gcc	p.T970A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7			54					GTGTCATTGGTGCAGAGGACA	0.667000																								0							SO:0001583	missense			ENST00000388820.4	1	1	hg19	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	0.858	-0.736240	0.03111	.	.	ENSG00000136378	ENST00000388820	T	0.50548	0.74	4.83	2.5	0.30297	.	0.752267	0.12865	N	0.432744	T	0.28995	0.0720	N	0.21194	0.64	0.19300	N	0.999978	B	0.21452	0.056	B	0.27076	0.076	T	0.30650	-0.9971	10	0.05959	T	0.93	.	8.0235	0.30423	0.0:0.1736:0.0:0.8264	.	970	Q9UKP4	ATS7_HUMAN	A	970	ENSP00000373472:T970A	ENSP00000373472:T970A	T	-	1	0	ADAMTS7	76846400	1.000000	0.71417	0.004000	0.12327	0.062000	0.15995	2.832000	0.48152	0.213000	0.20722	-0.342000	0.07992	ACC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1	60	284	0	65	0	9.969126e-01	0	44	0	65	2		0	0	0	0	0	2	1	1	61	278	0	65	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS7	11173	broad.mit.edu	37	15	79059868	79059868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059868G>A	ENST00000388820.4	-	18	2922	c.2712C>T	c.(2710-2712)gcC>gcT	p.A904A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7			54					TGCAGAGCACGGCCCGGCGGG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000388820.4	0	1	hg19	CCDS32303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	0	0	0	18	65	0	11	0	6.760528e-01	0	10	0	11	2		0	0	0	0	0	2	1	9.999873e-01	16	63	0	11	2								-20.000000	1	1	119060	1	31	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
ADAMTS7	11173	broad.mit.edu	37	15	79064008	79064008	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064008C>A	ENST00000388820.4	-	15	2505	c.2295G>T	c.(2293-2295)ggG>ggT	p.G765G	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7			54					TGAAGGTGGTCCCTGCCACCT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000388820.4	1	1	hg19	CCDS32303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1	22	196	0	53	0	8.651575e-01	0	34	0	53	2		0	0	0	0	0	2	1	9.999988e-01	22	190	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.770000	1.000000	1.000000	0.977060	0.990000	1	9.500000e-01	1
ADAMTS7	11173	broad.mit.edu	37	15	79064172	79064172	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064172C>A	ENST00000388820.4	-	15	2342		c.e15-1		ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7			54					TCCACATACCCTGTCAGCCAA	0.637000																								0							SO:0001630	splice_region_variant			ENST00000388820.4	1	1	hg19	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748845	0.49257	.	.	ENSG00000136378	ENST00000388820	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0564	0.71917	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS7	76851227	1.000000	0.71417	0.998000	0.56505	0.443000	0.32047	7.453000	0.80700	2.106000	0.64143	0.433000	0.28618	.		TCGA-IB-7651-01A-11D-2154-08	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1	25	131	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.999999e-01	24	126	0	41	2								-3.072168	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999876	0.990000	1	9.900000e-01	1
ADAMTS7	11173	broad.mit.edu	37	15	79082066	79082066	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79082066C>T	ENST00000388820.4	-	7	1353	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7			54					TGAAGGCCAGCGGCAGGCCCG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000388820.4	1	1	hg19	CCDS32303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1	24	105	0	20	0	9.531028e-01	0	25	0	20	2		0	0	0	0	0	2	1	9.999998e-01	24	102	0	20	2								-3.349400	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
CTSH	1512	broad.mit.edu	37	15	79224731	79224731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79224731C>T	ENST00000220166.5	-	6	584	c.475G>A	c.(475-477)Gga>Aga	p.G159R	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H			10					AGCATCTTTCCGGTTGCGATG	0.622000																								0							SO:0001583	missense			ENST00000220166.5	1	1	hg19	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893569	0.52121	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741	T;T	0.27402	1.67;1.67	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.92219	3.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.72551	-0.4259	10	0.66056	D	0.02	.	13.2051	0.59790	0.0:1.0:0.0:0.0	.	147	E9PBP2	.	R	159;147;83	ENSP00000220166:G159R;ENSP00000435329:G83R	ENSP00000220166:G159R	G	-	1	0	CTSH	77011786	0.999000	0.42202	0.317000	0.25265	0.177000	0.22998	4.443000	0.59994	2.155000	0.67459	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	1	0	1	38	197	0	58	1	1	170	1211	0	58	2		0	0	0	0	0	2	1	1	38	196	0	57	2								-2.955058	1	1	121412	2	33	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
RASGRF1	5923	broad.mit.edu	37	15	79296436	79296436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79296436G>A	ENST00000419573.3	-	16	2479	c.2205C>T	c.(2203-2205)cgC>cgT	p.R735R	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1			71					AGGAGAACTTGCGGGTGGCGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000419573.3	1	1	hg19	CCDS10309.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	0	0	0	18	493	0	83	0	7.264840e-02	1	11	0	83	2		0	0	0	0	0	2	1	9.999787e-01	16	484	0	82	2								-16.789660	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.410000	0.250000	0.620000	0.410000	0.429635	0.410000	0	3.200000e-01	5.200000e-01
KIAA1024	23251	broad.mit.edu	37	15	79760664	79760664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79760664G>A	ENST00000305428.3	+	4	2764	c.2689G>A	c.(2689-2691)Gct>Act	p.A897T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024			49					TGCTCTGATCGCTGCTGCGGC	0.458000																								0							SO:0001583	missense			ENST00000305428.3	1	1	hg19	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	1.227	-0.625106	0.03636	.	.	ENSG00000169330	ENST00000305428	T	0.39997	1.05	5.67	0.306	0.15806	.	0.554149	0.19760	N	0.106696	T	0.13628	0.0330	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.23726	-1.0180	9	.	.	.	.	4.7925	0.13256	0.362:0.0:0.5035:0.1345	.	897	Q9UPX6	K1024_HUMAN	T	897	ENSP00000307461:A897T	.	A	+	1	0	KIAA1024	77547719	0.425000	0.25498	0.001000	0.08648	0.062000	0.15995	1.620000	0.36976	0.064000	0.16427	-0.122000	0.15005	GCT		TCGA-IB-7651-01A-11D-2154-08	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	1	0	1	28	110	0	24	0	1.939244e-01	0	4	0	24	2		0	0	0	0	0	2	1	1	27	107	0	24	2								-20.000000	1	1	121412	1	25	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FAH	2184	broad.mit.edu	37	15	80478528	80478528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80478528C>T	ENST00000407106.1	+	15	1392	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	FAH_ENST00000561421.1_Silent_p.L413L|FAH_ENST00000261755.5_Silent_p.L413L|FAH_ENST00000539156.1_Silent_p.L343L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)			19					TGGAAAAGTGCTGCCTGCTCT	0.562000									Tyrosinemia, type 1															0							SO:0001819	synonymous_variant	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	ENST00000407106.1	1	1	hg19	CCDS10314.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2	1	0	1	64	276	0	74	1	9.999979e-01	10	75	0	74	2		0	0	0	0	0	2	1	1	62	268	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARNT2	9915	broad.mit.edu	37	15	80845037	80845037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80845037C>T	ENST00000303329.4	+	10	1176	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	ARNT2_ENST00000533983.1_Silent_p.F326F|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Silent_p.F326F	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2			35			BRCA - Breast invasive adenocarcinoma(143;0.134)		CCACAGAGTTCTTATCCCGGC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000303329.4	1	1	hg19	CCDS32307.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2	0	0	0	18	552	0	107	0	1.576579e-02	0	6	0	107	2		0	0	0	0	0	2	1	9.999788e-01	17	542	0	107	2								-3.767738	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.370000	0.220000	0.560000	0.370000	0.385713	0.370000	0	2.900000e-01	4.700000e-01
KIAA1199	0	broad.mit.edu	37	15	81241240	81241240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81241240C>A	ENST00000394685.3	+	30	4480	c.4061C>A	c.(4060-4062)cCt>cAt	p.P1354H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H|MESDC2_ENST00000560244.1_Splice_Site			Q8WUJ3	CEMIP_HUMAN				49					GTGCCCATCCCTGTGGTGAAG	0.557000																								0							SO:0001583	missense			ENST00000394685.3	0	1	hg19	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528904	0.64860	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.70399	-0.48;-0.48;-0.48	5.26	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	D	0.83673	0.0167	10	0.87932	D	0	-21.3879	13.7161	0.62697	0.0:0.9245:0.0:0.0755	.	1354	Q8WUJ3	K1199_HUMAN	H	1354	ENSP00000220244:P1354H;ENSP00000378177:P1354H;ENSP00000348583:P1354H	ENSP00000220244:P1354H	P	+	2	0	KIAA1199	79028295	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	6.475000	0.73582	1.361000	0.45981	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1	1	0	0	129	660	0	163	1	1	134	161	0	163	2		0	0	0	0	0	2	1	1	127	652	0	161	2								-2.644200	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MESDC1	59274	broad.mit.edu	37	15	81294944	81294944	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81294944G>A	ENST00000267984.2	+	1	1650	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1			3					GCGGGGGACAGCCTGGTGGAG	0.721000																								0							SO:0001583	missense			ENST00000267984.2	0	1	hg19	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326163	0.41197	.	.	ENSG00000140406	ENST00000267984	T	0.08193	3.12	4.02	4.02	0.46733	.	0.146929	0.45606	U	0.000351	T	0.05318	0.0141	N	0.14661	0.345	0.44181	D	0.996998	B	0.25169	0.119	B	0.24155	0.051	T	0.33214	-0.9877	10	0.56958	D	0.05	-15.6875	8.6701	0.34145	0.0:0.165:0.6648:0.1702	.	111	Q9H1K6	MESD1_HUMAN	N	111	ENSP00000267984:S111N	ENSP00000267984:S111N	S	+	2	0	MESDC1	79081999	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.930000	0.70104	1.935000	0.56089	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	1	0	0	18	108	0	23	1	9.872973e-01	10	36	0	23	2		0	0	0	0	0	2	1	9.999879e-01	18	107	0	23	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998202	0.990000	1	9.900000e-01	1
C15orf26	161502	broad.mit.edu	37	15	81427610	81427610	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81427610G>T	ENST00000286732.4	+	2	152		c.e2-1			NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26			17					TTTCTGTTTAGGAGCTCATGA	0.343000																								0							SO:0001630	splice_region_variant			ENST00000286732.4	1	1	hg19	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026856	0.35797	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf26	79214665	1.000000	0.71417	0.995000	0.50966	0.416000	0.31233	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	1	0	1	34	216	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	32	210	0	64	2								-3.320980	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999767	0.990000	1	9.900000e-01	1
C15orf26	161502	broad.mit.edu	37	15	81430434	81430434	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81430434G>A	ENST00000286732.4	+	4	518	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26			17					GATATGGGCAGGACTTTTGCC	0.393000																								0							SO:0001819	synonymous_variant			ENST00000286732.4	1	1	hg19	CCDS42068.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	1	0	0	33	356	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	33	348	0	98	2								-9.620500	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.700000	1.000000	1.000000	0.937422	0.990000	1	8.300000e-01	1
IL16	3603	broad.mit.edu	37	15	81571983	81571983	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81571983C>T	ENST00000302987.4	+	7	949	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	IL16_ENST00000394660.2_Silent_p.L317L			Q14005	IL16_HUMAN	interleukin 16			57					GTCTCCCCCACTGTGCCGCTC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000302987.4	1	1	hg19	CCDS42069.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	1	0	0	49	231	0	55	0	3.597846e-01	0	7	0	55	2		0	0	0	0	0	2	1	1	49	230	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL16	3603	broad.mit.edu	37	15	81592491	81592491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81592491C>T	ENST00000302987.4	+	13	2824	c.2824C>T	c.(2824-2826)Cta>Tta	p.L942L	IL16_ENST00000394660.2_Silent_p.L942L|IL16_ENST00000394652.2_Silent_p.L241L			Q14005	IL16_HUMAN	interleukin 16			57					GGACCCGCTCCTAAGGCTGCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000302987.4	1	1	hg19	CCDS42069.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	0	0	0	63	246	0	55	0	9.999643e-01	0	62	0	55	2		0	0	0	0	0	2	1	1	62	243	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STARD5	80765	broad.mit.edu	37	15	81614779	81614779	+	Silent	SNP	G	G	A	rs142670896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81614779G>A	ENST00000302824.6	-	3	277	c.252C>T	c.(250-252)acC>acT	p.T84T	RP11-761I4.3_ENST00000559781.1_RNA|STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000560973.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5			6					TTTCAAAACCGGTCACATTCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000302824.6	1	1	hg19	CCDS10318.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2	1	0	0	33	387	0	96	1	8.405043e-01	6	35	0	96	2		0	0	0	0	0	2	1	1	34	375	0	96	2								-2.841672	1	1	121412	10	43	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.910000	0.640000	1.000000	1.000000	0.898349	0.910000	1	7.700000e-01	1
TMC3	342125	broad.mit.edu	37	15	81625165	81625165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81625165G>A	ENST00000359440.5	-	22	3033	c.2898C>T	c.(2896-2898)ctC>ctT	p.L966L	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.L967L|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3			34					GAGCCCGACGGAGGTCTATCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000359440.5	1	1	hg19	CCDS45324.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	1	0	1	23	98	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999995e-01	20	95	0	19	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
TMC3	342125	broad.mit.edu	37	15	81650547	81650547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81650547G>A	ENST00000359440.5	-	7	821	c.686C>T	c.(685-687)gCg>gTg	p.A229V	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A229V|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3			34					TAGGAAATACGCCAAGGGCAG	0.458000																								0							SO:0001583	missense			ENST00000359440.5	1	1	hg19	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	35	5.540252	0.96474	.	.	ENSG00000188869	ENST00000359440	D	0.85629	-2.01	5.64	5.64	0.86602	.	0.275034	0.34725	N	0.003737	D	0.93203	0.7835	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	D	0.93632	0.6957	10	0.87932	D	0	-20.1369	19.6883	0.95987	0.0:0.0:1.0:0.0	.	229;229	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	229	ENSP00000352413:A229V	ENSP00000352413:A229V	A	-	2	0	TMC3	79437602	1.000000	0.71417	0.960000	0.40013	0.893000	0.52053	9.005000	0.93587	2.654000	0.90174	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	1	0	0	66	336	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	65	329	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMC3	342125	broad.mit.edu	37	15	81666401	81666401	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81666401T>C	ENST00000359440.5	-	1	153	c.18A>G	c.(16-18)gcA>gcG	p.A6A	TMC3_ENST00000558726.1_Silent_p.A6A	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3			34					AGCGCTGGGATGCCTTCGAGG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000359440.5	1	1	hg19	CCDS45324.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	1	0	1	21	95	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999983e-01	21	91	0	25	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999902	0.990000	1	9.900000e-01	1
MEX3B	84206	broad.mit.edu	37	15	82335561	82335561	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335561G>A	ENST00000329713.4	-	2	2085	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B			19					ACTCGGGCTCGCTCTTCTCAC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000329713.4	1	1	hg19	CCDS10319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	1	0	0	17	443	0	86	0	1.562936e-01	1	17	0	86	2		0	0	0	0	0	2	1	9.999640e-01	17	439	0	85	2								-4.121306	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.430000	0.260000	0.660000	0.430000	0.451460	0.430000	0	3.400000e-01	5.500000e-01
MEX3B	84206	broad.mit.edu	37	15	82335787	82335787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335787G>A	ENST00000329713.4	-	2	1859	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B			19					CAGCCCGTTGGCATAAGCGGC	0.697000																								0							SO:0001583	missense			ENST00000329713.4	0	1	hg19	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555080	0.13436	2.32E-4	0.0	ENSG00000183496	ENST00000329713	T	0.23950	1.88	4.5	4.5	0.54988	.	0.375112	0.23532	N	0.047161	T	0.14614	0.0353	N	0.08118	0	0.80722	D	1	B	0.25007	0.116	B	0.24006	0.05	T	0.10567	-1.0624	10	0.23302	T	0.38	-13.7427	16.1323	0.81449	0.0:0.0:1.0:0.0	.	475	Q6ZN04	MEX3B_HUMAN	V	475	ENSP00000329918:A475V	ENSP00000329918:A475V	A	-	2	0	MEX3B	80122842	0.998000	0.40836	0.998000	0.56505	0.614000	0.37383	4.819000	0.62664	2.333000	0.79357	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	1	0	1	8	47	0	13	0	3.648065e-01	0	8	0	13	2		0	0	0	0	0	2	1	9.912247e-01	8	47	0	13	2								-18.912190	1	1	114992	2	29	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.770000	1.000000	1.000000	0.985391	0.990000	1	9.900000e-01	1
MEX3B	84206	broad.mit.edu	37	15	82336392	82336392	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82336392C>T	ENST00000329713.4	-	2	1254	c.819G>A	c.(817-819)acG>acA	p.T273T	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B			19					CGGGGGTGGGCGTGATGCTGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000329713.4	0	1	hg19	CCDS10319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	0	0	0	11	288	0	37	0	1.180178e-01	0	15	0	37	2		0	0	0	0	0	2	1	9.972618e-01	11	264	0	36	2								-3.016142	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.440000	0.230000	0.720000	0.430000	0.459209	0.440000	0	3.200000e-01	5.800000e-01
EFTUD1	79631	broad.mit.edu	37	15	82444692	82444692	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82444692T>G	ENST00000268206.7	-	18	2271	c.2103A>C	c.(2101-2103)aaA>aaC	p.K701N	EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1			32					CCATGTCAACTTTTGGGGGTT	0.358000																								0							SO:0001583	missense			ENST00000268206.7	1	1	hg19	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361645	0.61403	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.26957	1.7;1.7	5.73	3.43	0.39272	Ribosomal protein S5 domain 2-type fold (1);	0.157020	0.28766	N	0.014218	T	0.24509	0.0594	N	0.10809	0.05	0.58432	D	0.999998	P;P	0.52692	0.954;0.955	P;P	0.58928	0.848;0.839	T	0.03034	-1.1080	10	0.37606	T	0.19	-7.7117	10.1789	0.42955	0.0:0.135:0.0:0.865	.	650;701	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	N	701;650	ENSP00000268206:K701N;ENSP00000352418:K650N	ENSP00000268206:K701N	K	-	3	2	EFTUD1	80231747	1.000000	0.71417	0.749000	0.31150	0.988000	0.76386	1.473000	0.35387	0.445000	0.26639	-0.400000	0.06385	AAA		TCGA-IB-7651-01A-11D-2154-08	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	1	0	1	126	652	0	154	1	9.999882e-01	22	62	0	154	2		0	0	0	0	0	2	1	1	125	643	0	153	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFTUD1	79631	broad.mit.edu	37	15	82532772	82532772	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82532772T>G	ENST00000268206.7	-	6	671	c.503A>C	c.(502-504)aAt>aCt	p.N168T	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1			32					TTCTAAAATATTCTTGAGGTG	0.373000																								0							SO:0001583	missense			ENST00000268206.7	0	1	hg19	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006488	0.54361	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.75938	-0.98;-0.98	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (1);	0.102941	0.40302	U	0.001139	T	0.64238	0.2580	N	0.26162	0.8	0.44899	D	0.997911	B;B	0.32693	0.38;0.142	B;B	0.36030	0.205;0.216	T	0.68435	-0.5409	10	0.66056	D	0.02	.	12.5358	0.56140	0.0:0.0:0.0:1.0	.	117;168	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	T	168;117	ENSP00000268206:N168T;ENSP00000352418:N117T	ENSP00000268206:N168T	N	-	2	0	EFTUD1	80319827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	1.804000	0.52760	0.438000	0.28831	AAT		TCGA-IB-7651-01A-11D-2154-08	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	0	0	1	10	75	0	21	1	9.937889e-01	19	52	0	21	2		0	0	0	0	0	2	1	9.974610e-01	10	75	0	21	2								-17.593750	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.710000	1.000000	1.000000	0.975354	0.990000	1	9.900000e-01	1
FAM154B	283726	broad.mit.edu	37	15	82555261	82555261	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82555261T>G	ENST00000339465.5	+	1	110	c.41T>G	c.(40-42)aTt>aGt	p.I14S	FAM154B_ENST00000427381.2_De_novo_Start_OutOfFrame|EFTUD1_ENST00000268206.7_5'Flank|FAM154B_ENST00000565432.1_De_novo_Start_OutOfFrame|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|EFTUD1_ENST00000359445.3_5'Flank|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B			19					CTGTGTCAGATTTGTAGCTGC	0.642000																								0							SO:0001583	missense			ENST00000339465.5	0	0	hg19	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	T	9.312	1.055836	0.19907	.	.	ENSG00000188659	ENST00000339465	T	0.17528	2.27	3.22	3.22	0.36961	.	0.162599	0.37095	U	0.002253	T	0.20170	0.0485	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.14337	-1.0476	10	0.59425	D	0.04	-10.1081	11.6085	0.51045	0.0:0.0:0.0:1.0	.	14	Q658L1	F154B_HUMAN	S	14	ENSP00000340445:I14S	ENSP00000340445:I14S	I	+	2	0	FAM154B	80342316	1.000000	0.71417	0.990000	0.47175	0.342000	0.28953	4.568000	0.60857	1.480000	0.48289	0.172000	0.16884	ATT		TCGA-IB-7651-01A-11D-2154-08	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	1	0	1	10	63	0	11	0	6.165414e-02	0	3	0	11	2		0	0	0	0	0	2	1	9.973767e-01	10	62	0	9	2								-17.976400	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.810000	1.000000	1.000000	0.988170	0.990000	1	9.900000e-01	1
AP3B2	8120	broad.mit.edu	37	15	83335598	83335598	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83335598G>T	ENST00000261722.3	-	15	1960	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit			41			BRCA - Breast invasive adenocarcinoma(143;0.229)		GGGACGATGAGCTGCCGGGTG	0.587000																								0							SO:0001583	missense			ENST00000261722.3	1	1	hg19	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662158	0.88251	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.28895	1.59;1.59;1.59	5.84	4.92	0.64577	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.52266	1.64	0.80722	D	1	D;P;P	0.56968	0.978;0.756;0.859	P;P;P	0.53006	0.715;0.456;0.679	T	0.15263	-1.0443	10	0.35671	T	0.21	-24.1255	15.1021	0.72288	0.068:0.0:0.932:0.0	.	553;585;585	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	585;553;585	ENSP00000261722:L585I;ENSP00000438721:L553I;ENSP00000440984:L585I	ENSP00000261722:L585I	L	-	1	0	AP3B2	81132653	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.838000	0.99474	1.475000	0.48197	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1	1	0	1	76	378	0	97	0	2.882068e-02	0	2	0	97	2		0	0	0	0	0	2	1	1	74	370	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP3B2	8120	broad.mit.edu	37	15	83346884	83346884	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83346884G>A	ENST00000261722.3	-	11	1425	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	AP3B2_ENST00000535359.1_Silent_p.N406N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.N374N	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit			41			BRCA - Breast invasive adenocarcinoma(143;0.229)		CAGTAGGAATGTTGGTCTCAT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000261722.3	1	1	hg19	CCDS45331.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1	1	0	1	26	101	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1	26	99	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
FSD2	123722	broad.mit.edu	37	15	83440974	83440974	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83440974G>T	ENST00000334574.8	-	7	1299	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	FSD2_ENST00000541889.1_Missense_Mutation_p.S373Y			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2			18					GACTGGAGCAGAAGGAGCTAG	0.498000																								0							SO:0001583	missense			ENST00000334574.8	1	1	hg19	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508891	0.64410	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.58797	0.31;1.7	5.42	4.45	0.53987	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057505	0.64402	D	0.000001	T	0.72779	0.3503	M	0.62723	1.935	0.43852	D	0.996446	D;D	0.76494	0.987;0.999	P;D	0.74348	0.883;0.983	T	0.75733	-0.3214	10	0.66056	D	0.02	-20.8773	16.226	0.82293	0.0:0.1776:0.8224:0.0	.	373;373	B7ZM02;A1L4K1	.;FSD2_HUMAN	Y	373	ENSP00000335651:S373Y;ENSP00000444078:S373Y	ENSP00000335651:S373Y	S	-	2	0	FSD2	81238028	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.199000	0.51043	2.525000	0.85131	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	1	0	1	19	54	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999964e-01	18	54	0	14	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
WHAMM	123720	broad.mit.edu	37	15	83478510	83478510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83478510G>A	ENST00000286760.4	+	1	131	c.32G>A	c.(31-33)gGc>gAc	p.G11D		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules			13					AGCCTGGAGGGCTGGGTGCCG	0.736000																								0							SO:0001583	missense			ENST00000286760.4	0	1	hg19	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131709	0.94473	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.09255	3.0	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00521	-1.1691	10	0.52906	T	0.07	.	18.2166	0.89887	0.0:0.0:1.0:0.0	.	11	Q8TF30	WHAMM_HUMAN	D	11	ENSP00000286760:G11D	ENSP00000234505:G11D	G	+	2	0	WHAMM	81275564	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	6.840000	0.75369	2.547000	0.85894	0.585000	0.79938	GGC		TCGA-IB-7651-01A-11D-2154-08	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1	0	0	0	12	53	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.994254e-01	12	53	0	9	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998527	0.990000	1	9.900000e-01	1
SH3GL3	6457	broad.mit.edu	37	15	84237341	84237341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84237341C>T	ENST00000427482.2	+	4	554	c.248C>T	c.(247-249)aCc>aTc	p.T83I	SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T91I|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3			30					CAGGTGAAGACCACAGGATAC	0.468000																								0							SO:0001583	missense			ENST00000427482.2	1	1	hg19	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888960	0.33348	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.86	2.82	0.32997	BAR (3);	0.420176	0.25997	N	0.026979	T	0.28928	0.0718	L	0.57536	1.79	0.38708	D	0.953143	B;B;B	0.28820	0.224;0.054;0.076	B;B;B	0.28305	0.088;0.064;0.084	T	0.18903	-1.0322	10	0.38643	T	0.18	-25.1471	11.2328	0.48923	0.1415:0.7217:0.1368:0.0	.	83;83;91	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	I	83;83;91;91	ENSP00000391372:T83I;ENSP00000439239:T83I;ENSP00000320092:T91I;ENSP00000397871:T91I	ENSP00000320092:T91I	T	+	2	0	SH3GL3	82028345	0.427000	0.25514	0.844000	0.33320	0.876000	0.50452	0.547000	0.23299	1.148000	0.42385	0.544000	0.68410	ACC		TCGA-IB-7651-01A-11D-2154-08	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	1	0	1	63	348	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	60	343	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3GL3	6457	broad.mit.edu	37	15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84257442C>T	ENST00000427482.2	+	8	1063	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000324537.5_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3			30					TGTCCCCAGACGAGAATACAA	0.458000																								0							SO:0001587	stop_gained			ENST00000427482.2	0	1	hg19	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	41	9.023893	0.99040	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	.	.	.	4.34	1.3	0.21679	.	0.307812	0.31134	N	0.008189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6336	10.1325	0.42687	0.5339:0.4661:0.0:0.0	.	.	.	.	X	253;253;261;261	.	ENSP00000320092:R261X	R	+	1	2	SH3GL3	82048446	0.496000	0.26059	0.002000	0.10522	0.992000	0.81027	0.776000	0.26704	0.302000	0.22762	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	1	0	0	29	164	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	29	160	0	39	2								-15.738390	1	1	121412	3	37	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999878	0.990000	1	9.900000e-01	1
ADAMTSL3	57188	broad.mit.edu	37	15	84539609	84539609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84539609C>T	ENST00000286744.5	+	9	1082	c.858C>T	c.(856-858)ccC>ccT	p.P286P	ADAMTSL3_ENST00000567476.1_Silent_p.P286P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3			130			BRCA - Breast invasive adenocarcinoma(143;0.211)		TTAACAGCCCCGGCGTCTTTC	0.378000																								0							SO:0001819	synonymous_variant			ENST00000286744.5	1	1	hg19	CCDS10326.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	1	0	1	66	254	0	66	0	5.181325e-01	0	8	0	66	2		0	0	0	0	0	2	1	1	66	251	0	66	2								-2.876199	1	1	121406	5	40	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR73	84942	broad.mit.edu	37	15	85186746	85186746	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85186746G>T	ENST00000434634.2	-	8	1152	c.1092C>A	c.(1090-1092)gcC>gcA	p.A364A	WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73			3					CATGCAGAGAGGCATCATTTG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000434634.2	0	1	hg19	CCDS45339.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	0	0	1	6	43	0	10	1	9.881158e-01	13	52	0	10	2		0	0	0	0	0	2	1	9.638013e-01	6	41	0	10	2								-12.515140	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.600000	1.000000	1.000000	0.958029	0.990000	1	9.100000e-01	1
WDR73	84942	broad.mit.edu	37	15	85191804	85191804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85191804C>T	ENST00000434634.2	-	4	311	c.251G>A	c.(250-252)aGg>aAg	p.R84K	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73			3					AAAGATAGACCTGTCTGAAAA	0.453000																								0							SO:0001583	missense			ENST00000434634.2	1	1	hg19	CCDS45339.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432820	0.25813	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.28454	1.61	5.91	0.265	0.15612	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.613293	0.17647	N	0.166813	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.14172	-1.0482	10	0.45353	T	0.12	-11.0667	4.9785	0.14153	0.0:0.4561:0.1674:0.3765	.	84;84	B4DI20;Q6P4I2	.;WDR73_HUMAN	K	92;84	ENSP00000387982:R84K	ENSP00000381539:R92K	R	-	2	0	WDR73	82992808	0.000000	0.05858	0.009000	0.14445	0.936000	0.57629	0.010000	0.13242	0.089000	0.17243	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	1	0	1	79	488	0	134	1	9.931907e-01	18	31	0	134	2		0	0	0	0	0	2	1	1	79	480	0	134	2								-2.920896	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF592	9640	broad.mit.edu	37	15	85326844	85326844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85326844G>T	ENST00000560079.2	+	4	1226	c.938G>T	c.(937-939)gGg>gTg	p.G313V	ZNF592_ENST00000299927.3_Missense_Mutation_p.G313V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592			40			BRCA - Breast invasive adenocarcinoma(143;0.0587)		GATCTCTCAGGGCCCACTAAA	0.537000																								0							SO:0001583	missense			ENST00000560079.2	1	1	hg19	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023302	0.19433	.	.	ENSG00000166716	ENST00000299927	T	0.00608	6.25	5.65	3.78	0.43462	.	0.236852	0.42682	D	0.000680	T	0.00412	0.0013	N	0.12182	0.205	0.53688	D	0.999975	P	0.42518	0.782	B	0.36378	0.223	D	0.85856	0.1407	10	0.37606	T	0.19	-30.6874	9.883	0.41245	0.1648:0.0:0.8352:0.0	.	313	Q92610	ZN592_HUMAN	V	313	ENSP00000299927:G313V	ENSP00000299927:G313V	G	+	2	0	ZNF592	83127848	0.731000	0.28111	1.000000	0.80357	0.942000	0.58702	1.042000	0.30303	1.393000	0.46605	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	1	0	1	89	430	0	123	1	9.999980e-01	18	74	0	123	2		0	0	0	0	0	2	1	1	88	419	0	122	2								-3.099830	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF592	9640	broad.mit.edu	37	15	85341876	85341876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85341876G>T	ENST00000560079.2	+	8	3082	c.2794G>T	c.(2794-2796)Gac>Tac	p.D932Y	ZNF592_ENST00000299927.3_Missense_Mutation_p.D932Y	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592			40			BRCA - Breast invasive adenocarcinoma(143;0.0587)		GTCTTCAGCGGACACATCCTC	0.622000																								0							SO:0001583	missense			ENST00000560079.2	1	1	hg19	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.092952	0.36952	.	.	ENSG00000166716	ENST00000299927	T	0.00622	6.16	4.75	4.75	0.60458	.	0.330880	0.31721	N	0.007167	T	0.01627	0.0052	L	0.32530	0.975	0.37890	D	0.930687	D	0.63880	0.993	P	0.59487	0.858	T	0.73294	-0.4028	10	0.59425	D	0.04	-27.3243	15.2915	0.73870	0.0:0.0:1.0:0.0	.	932	Q92610	ZN592_HUMAN	Y	932	ENSP00000299927:D932Y	ENSP00000299927:D932Y	D	+	1	0	ZNF592	83142880	0.996000	0.38824	0.621000	0.29145	0.235000	0.25334	5.113000	0.64640	2.439000	0.82584	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	1	0	1	48	214	0	62	1	9.999969e-01	16	72	0	62	2		0	0	0	0	0	2	1	1	48	211	0	60	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPK3	57538	broad.mit.edu	37	15	85401163	85401163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85401163G>A	ENST00000258888.5	+	6	3967	c.3800G>A	c.(3799-3801)gGt>gAt	p.G1267D		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3			81			BRCA - Breast invasive adenocarcinoma(143;0.0587)		TGGGGTCCTGGTCCCAGCTCC	0.682000																								0							SO:0001583	missense			ENST00000258888.5	1	1	hg19	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896135	0.17686	.	.	ENSG00000136383	ENST00000258888	T	0.61980	0.06	4.87	-0.919	0.10478	.	1.130040	0.06420	N	0.722229	T	0.45296	0.1335	L	0.32530	0.975	0.09310	N	1	P	0.48911	0.917	P	0.46049	0.502	T	0.35051	-0.9804	10	0.07644	T	0.81	-1.6914	1.0785	0.01638	0.1812:0.1478:0.3685:0.3026	.	1267	Q96L96	ALPK3_HUMAN	D	1267	ENSP00000258888:G1267D	ENSP00000258888:G1267D	G	+	2	0	ALPK3	83202167	0.000000	0.05858	0.013000	0.15412	0.029000	0.11900	-0.367000	0.07553	0.107000	0.17824	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	1	0	1	20	88	0	19	0	3.783784e-02	0	2	0	19	2		0	0	0	0	0	2	1	9.999975e-01	20	87	0	17	2								-20.000000	1	1	121192	1	26	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999892	0.990000	1	9.900000e-01	1
ALPK3	57538	broad.mit.edu	37	15	85407773	85407773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85407773G>A	ENST00000258888.5	+	12	5373	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3			81			BRCA - Breast invasive adenocarcinoma(143;0.0587)		CTGTTCTCGGGAATGGGGCTG	0.547000																								0							SO:0001583	missense			ENST00000258888.5	1	1	hg19	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678367	0.88542	.	.	ENSG00000136383	ENST00000258888	T	0.06449	3.3	5.62	4.69	0.59074	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.642960	0.15699	N	0.249015	T	0.09247	0.0228	N	0.22421	0.69	0.28334	N	0.921641	B;P	0.40534	0.437;0.72	B;P	0.47118	0.257;0.538	T	0.08126	-1.0737	10	0.72032	D	0.01	-1.4623	13.9844	0.64324	0.0:0.1588:0.8412:0.0	.	37;1736	B4DU37;Q96L96	.;ALPK3_HUMAN	K	1736	ENSP00000258888:E1736K	ENSP00000258888:E1736K	E	+	1	0	ALPK3	83208777	1.000000	0.71417	0.972000	0.41901	0.918000	0.54935	3.720000	0.54933	1.335000	0.45486	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	1	0	1	80	367	0	101	0	4.996658e-01	0	9	0	101	2		0	0	0	0	0	2	1	1	78	357	0	99	2								-20.000000	1	1	121412	5	41	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC28A1	9154	broad.mit.edu	37	15	85447402	85447402	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85447402T>G	ENST00000286749.3	+	6	626	c.536T>G	c.(535-537)cTg>cGg	p.L179R	SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000394573.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1			41			BRCA - Breast invasive adenocarcinoma(143;0.0587)	Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCTGAGCAACTGGTGTCCTTC	0.587000																								0							SO:0001583	missense			ENST00000286749.3	1	1	hg19	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953784	0.34471	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	4.38	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.999;0.993;1.0	T	0.53208	-0.8471	10	0.87932	D	0	-0.008	6.4798	0.22057	0.0:0.1088:0.0:0.8912	.	179;179;179;101;179	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	R	179;179;179;179;179;101	ENSP00000440546:L179R;ENSP00000443752:L179R;ENSP00000444700:L179R;ENSP00000286749:L179R;ENSP00000378074:L179R;ENSP00000443764:L101R	ENSP00000286749:L179R	L	+	2	0	SLC28A1	83248406	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	5.495000	0.66912	0.753000	0.32945	-0.256000	0.11100	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2	0	0	0	13	492	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.994717e-01	12	482	0	76	2								-11.568080	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.300000	0.170000	0.490000	0.290000	0.320281	0.300000	0	2.300000e-01	4.000000e-01
SLC28A1	9154	broad.mit.edu	37	15	85478712	85478712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85478712C>T	ENST00000286749.3	+	14	1634	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	RNU6-339P_ENST00000384310.1_RNA|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1			41			BRCA - Breast invasive adenocarcinoma(143;0.0587)	Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTGGCAGGGGCCGAGGAGTGG	0.617000																								0							SO:0001583	missense			ENST00000286749.3	1	1	hg19	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	0.434	-0.902119	0.02453	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.01933	4.55;4.66;4.69;4.69	5.19	-7.83	0.01201	Na dependent nucleoside transporter, C-terminal (1);	1.306430	0.04674	N	0.411195	T	0.01189	0.0039	N	0.02275	-0.615	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.47749	-0.9093	10	0.15952	T	0.53	-16.176	15.5491	0.76133	0.0:0.3386:0.0:0.6614	.	515;515;515	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	515	ENSP00000440546:A515V;ENSP00000444700:A515V;ENSP00000286749:A515V;ENSP00000378074:A515V	ENSP00000286749:A515V	A	+	2	0	SLC28A1	83279716	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.457000	0.06745	-1.555000	0.01697	-1.360000	0.01215	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2	1	0	0	29	716	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	28	703	0	112	2								-4.046775	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.450000	0.310000	0.630000	0.450000	0.467314	0.450000	0	3.700000e-01	5.500000e-01
SLC28A1	9154	broad.mit.edu	37	15	85488368	85488368	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85488368G>A	ENST00000286749.3	+	18	1977	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000394573.1_Silent_p.E629E|SLC28A1_ENST00000538177.1_Silent_p.E463E|SLC28A1_ENST00000537624.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1			41			BRCA - Breast invasive adenocarcinoma(143;0.0587)	Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TCAATCCAGAGTTCAGCCCAG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000286749.3	1	1	hg19	CCDS10334.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2	1	0	0	24	242	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	9.999996e-01	24	234	0	71	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.700000	1.000000	1.000000	0.951735	0.990000	1	8.600000e-01	1
PDE8A	5151	broad.mit.edu	37	15	85610412	85610412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85610412G>A	ENST00000310298.4	+	4	663	c.411G>A	c.(409-411)caG>caA	p.Q137Q	PDE8A_ENST00000339708.5_Silent_p.Q137Q|PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Silent_p.Q137Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A			25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)	Caffeine(DB00201)|Ketotifen(DB00920)	ATCCTCGACAGCTGGATGCAG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000310298.4	1	1	hg19	CCDS10336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	1	0	0	58	294	0	78	1	9.988581e-01	14	40	0	78	2		0	0	0	0	0	2	1	1	56	290	0	78	2								-20.000000	1	1	121408	1	34	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE8A	5151	broad.mit.edu	37	15	85652283	85652283	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85652283G>A	ENST00000310298.4	+	13	1288		c.e13-1		PDE8A_ENST00000339708.5_Splice_Site|PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site			O60658	PDE8A_HUMAN	phosphodiesterase 8A			25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)	Caffeine(DB00201)|Ketotifen(DB00920)	TGTTTCTACAGATAATCAGAC	0.348000																								0							SO:0001630	splice_region_variant			ENST00000310298.4	1	1	hg19	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457121	0.63401	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6931	0.62559	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE8A	83453287	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	8.295000	0.89937	2.074000	0.62210	0.514000	0.50259	.		TCGA-IB-7651-01A-11D-2154-08	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	1	0	1	47	244	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	47	238	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PDE8A	5151	broad.mit.edu	37	15	85658679	85658679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85658679C>T	ENST00000310298.4	+	16	1612	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*			O60658	PDE8A_HUMAN	phosphodiesterase 8A			25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)	Caffeine(DB00201)|Ketotifen(DB00920)	GGATGGTTTGCGAAGACTATC	0.358000																								0							SO:0001587	stop_gained			ENST00000310298.4	0	1	hg19	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	39	7.550329	0.98352	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	.	.	.	5.66	2.66	0.31614	.	0.068745	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5494	0.45079	0.1405:0.5885:0.271:0.0	.	.	.	.	X	454;454;408	.	ENSP00000311453:R454X	R	+	1	2	PDE8A	83459683	0.953000	0.32496	0.686000	0.30086	0.798000	0.45092	2.016000	0.40971	0.288000	0.22398	-0.176000	0.13171	CGA		TCGA-IB-7651-01A-11D-2154-08	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	1	0	1	21	135	0	25	1	9.328948e-01	2	30	0	25	2		0	0	0	0	0	2	1	9.999983e-01	21	133	0	25	2								-11.690220	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998159	0.990000	1	9.900000e-01	1
AKAP13	11214	broad.mit.edu	37	15	86076846	86076846	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86076846G>T	ENST00000394518.2	+	4	308	c.213G>T	c.(211-213)caG>caT	p.Q71H	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71H|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13			98					TGAAGGTGCAGCTCTGTGCTT	0.468000													Melanoma(94;603 1453 3280 32295 32951)											0							SO:0001583	missense			ENST00000394518.2	0	1	hg19	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460328	0.63401	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.59502	0.26;0.26	5.67	3.73	0.42828	.	.	.	.	.	T	0.42040	0.1185	N	0.08118	0	0.80722	D	1	P;P;D	0.53885	0.85;0.907;0.963	B;B;P	0.50136	0.258;0.443;0.632	T	0.39702	-0.9601	9	0.62326	D	0.03	.	6.3501	0.21370	0.1609:0.2851:0.554:0.0	.	71;71;71	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	H	71;71;70;70	ENSP00000354718:Q71H;ENSP00000378026:Q71H	ENSP00000354718:Q71H	Q	+	3	2	AKAP13	83877850	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.880000	0.28159	0.798000	0.33994	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	0	0	28	407	1	63	1	2.494034e-01	3	23	1	63	3		0	0	0	0	0	2	1	8.683981e-01	28	401	1	63	21								-7.354938	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.750000	0.510000	1.000000	1.000000	0.764604	0.750000	0	6.200000e-01	9.000000e-01
AKAP13	11214	broad.mit.edu	37	15	86122939	86122939	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86122939A>G	ENST00000394518.2	+	7	1735	c.1640A>G	c.(1639-1641)aAa>aGa	p.K547R	AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13			98					GATGGTAACAAACCTGCTGAG	0.488000													Melanoma(94;603 1453 3280 32295 32951)											0							SO:0001583	missense			ENST00000394518.2	1	1	hg19	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567026	0.65651	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10382	2.88;2.88	5.87	-8.0	0.01126	.	.	.	.	.	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.10450	0.002;0.005	T	0.41945	-0.9480	9	0.21540	T	0.41	.	5.7191	0.17976	0.2046:0.5528:0.1386:0.1039	.	547;547	Q12802;Q12802-2	AKP13_HUMAN;.	R	547;547;546;546	ENSP00000354718:K547R;ENSP00000378026:K547R	ENSP00000354718:K547R	K	+	2	0	AKAP13	83923943	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-2.079000	0.01369	-1.133000	0.02903	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	1	0	1	112	504	0	144	1	9.878110e-01	4	29	0	144	2		0	0	0	0	0	2	1	1	111	493	0	142	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP13	11214	broad.mit.edu	37	15	86124899	86124899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86124899G>A	ENST00000394518.2	+	7	3695	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	AKAP13_ENST00000361243.2_Silent_p.E1200E|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13			98					CAGACATGGAGCTCTCAGCCC	0.587000													Melanoma(94;603 1453 3280 32295 32951)											0							SO:0001819	synonymous_variant			ENST00000394518.2	1	1	hg19	CCDS32319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	0	1	7	232	0	57	1	6.800191e-01	7	69	0	57	2		0	0	0	0	0	2	1	9.807682e-01	7	231	0	56	2								-8.839191	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.350000	0.160000	0.650000	0.340000	0.380741	0.350000	0	2.400000e-01	5.000000e-01
AKAP13	11214	broad.mit.edu	37	15	86125099	86125099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86125099G>A	ENST00000394518.2	+	7	3895	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13			98					AAGGCCGCTGGAGCACTGCTT	0.552000													Melanoma(94;603 1453 3280 32295 32951)											0							SO:0001583	missense			ENST00000394518.2	1	1	hg19	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818539	0.32145	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.13538	2.58;2.58	5.53	1.48	0.22813	.	.	.	.	.	T	0.09862	0.0242	L	0.32530	0.975	0.09310	N	0.999999	B;B	0.24258	0.1;0.05	B;B	0.26770	0.033;0.073	T	0.32481	-0.9905	9	0.38643	T	0.18	.	4.7716	0.13158	0.2482:0.1669:0.5849:0.0	.	1267;1267	Q12802;Q12802-2	AKP13_HUMAN;.	E	1267;1267;1266;1266	ENSP00000354718:G1267E;ENSP00000378026:G1267E	ENSP00000354718:G1267E	G	+	2	0	AKAP13	83926103	0.394000	0.25246	0.009000	0.14445	0.004000	0.04260	0.557000	0.23454	0.652000	0.30806	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	1	0	1	42	172	0	34	1	9.999995e-01	23	73	0	34	2		0	0	0	0	0	2	1	1	42	168	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP13	11214	broad.mit.edu	37	15	86225399	86225399	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86225399C>A	ENST00000394518.2	+	15	5207	c.5112C>A	c.(5110-5112)ccC>ccA	p.P1704P	AKAP13_ENST00000361243.2_Silent_p.P1708P|AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13			98					ATTCACGGCCCTTCCACAGTA	0.333000													Melanoma(94;603 1453 3280 32295 32951)											0							SO:0001819	synonymous_variant			ENST00000394518.2	0	1	hg19	CCDS32319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	0	0	8	291	0	61	0	9.197419e-01	0	163	0	61	2		0	0	0	0	0	2	1	9.880808e-01	8	281	0	59	2								-3.059424	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.320000	0.150000	0.570000	0.310000	0.344425	0.320000	0	2.200000e-01	4.500000e-01
AGBL1	123624	broad.mit.edu	37	15	86800203	86800203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86800203G>A	ENST00000441037.2	+	7	812	c.717G>A	c.(715-717)ccG>ccA	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1			62					ATGCCTTCCCGGTCCCCGGGT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000441037.2	1	1	hg19	CCDS58398.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	1	0	1	25	131	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	9.999999e-01	25	128	0	35	2								-3.130160	1	1	120940	2	37	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999876	0.990000	1	9.900000e-01	1
AGBL1	123624	broad.mit.edu	37	15	86822881	86822881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822881G>A	ENST00000441037.2	+	15	2044	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1			62					AATCATTATCGCCAGAGTACA	0.507000																								0							SO:0001583	missense			ENST00000441037.2	0	1	hg19	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561146	0.27915	2.44E-4	0.0	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11277	2.8;2.79	5.3	0.0935	0.14477	.	0.605985	0.17360	N	0.177067	T	0.10121	0.0248	M	0.66939	2.045	0.09310	N	1	B;B;B	0.21147	0.052;0.052;0.01	B;B;B	0.15484	0.009;0.013;0.003	T	0.23904	-1.0175	10	0.42905	T	0.14	-0.9957	3.6769	0.08295	0.1411:0.3666:0.3668:0.1256	.	349;381;650	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	H	679;650;381	ENSP00000397173:R650H;ENSP00000373949:R381H	ENSP00000373949:R381H	R	+	2	0	AGBL1	84623885	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.615000	0.24329	-0.115000	0.11915	-0.140000	0.14226	CGC		TCGA-IB-7651-01A-11D-2154-08	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	1	0	0	72	321	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	69	313	0	78	2								-20.000000	1	0	120988	6	40	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGBL1	123624	broad.mit.edu	37	15	87217645	87217645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87217645G>A	ENST00000441037.2	+	22	3156	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T	AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T|AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1			62					TGAGGAGGACGCTCTGGACCA	0.532000																								0							SO:0001583	missense			ENST00000441037.2	1	1	hg19	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890460	0.33348	0.0	2.41E-4	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10099	2.92;2.91	5.63	-0.477	0.12097	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.45101	-0.9284	9	0.16420	T	0.52	-0.0733	3.0314	0.06108	0.3053:0.0:0.3541:0.3407	.	1021	Q96MI9	CBPC4_HUMAN	T	1021;752	ENSP00000397173:A1021T;ENSP00000373949:A752T	ENSP00000373949:A752T	A	+	1	0	AGBL1	85018649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.408000	0.07169	0.301000	0.22738	-0.222000	0.12452	GCT		TCGA-IB-7651-01A-11D-2154-08	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	1	0	1	17	90	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.999733e-01	17	87	0	43	2								-20.000000	1	1	120862	5	33	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999078	0.990000	1	9.900000e-01	1
AGBL1	123624	broad.mit.edu	37	15	87531283	87531283	+	Missense_Mutation	SNP	A	A	G	rs114992033	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87531283A>G	ENST00000441037.2	+	23	3244	c.3149A>G	c.(3148-3150)aAc>aGc	p.N1050S	AGBL1_ENST00000421325.2_Missense_Mutation_p.N1050S|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.N781S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1			62					gccattacaaactttttcaag	0.403000																								0							SO:0001583	missense			ENST00000441037.2	1	0	hg19	CCDS58398.1	12	0.005494505494505495	8	0.016260162601626018	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	A	3.575	-0.086871	0.07097	0.002419	0.004282	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.09911	2.95;2.93	1.57	1.57	0.23409	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.23854	0.092	B	0.12156	0.007	T	0.34675	-0.9819	9	0.87932	D	0	.	5.2126	0.15325	1.0:0.0:0.0:0.0	.	1050	Q96MI9	CBPC4_HUMAN	S	1050;781	ENSP00000397173:N1050S;ENSP00000373949:N781S	ENSP00000373949:N781S	N	+	2	0	AGBL1	85332287	0.002000	0.14202	0.001000	0.08648	0.161000	0.22273	1.112000	0.31172	0.957000	0.37930	0.421000	0.28195	AAC		TCGA-IB-7651-01A-11D-2154-08	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	0	0	1	174	760	0	200		0	0	0	0	200	2		0	0	0	0	0	2	1	1	169	748	0	198	2								-2.848873	1	1	120814	457	63	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTRK3	4916	broad.mit.edu	37	15	88420315	88420315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88420315G>A	ENST00000360948.2	-	19	2532	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W	NTRK3_ENST00000394480.2_Missense_Mutation_p.R777W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		ETV6/NTRK3(238)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)		ACTCGGGGCCGCTCCAAAACA	0.527000			T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)					Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0							SO:0001583	missense			ENST00000360948.2	1	1	hg19	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873862	0.72180	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.58	2.28	0.28536	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	D	0.87664	0.2536	10	0.87932	D	0	.	13.2102	0.59819	0.0:0.0:0.2524:0.7476	.	769;777;791	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	W	777;791;783;777	ENSP00000377990:R777W;ENSP00000354207:R791W;ENSP00000350356:R783W;ENSP00000347397:R777W	ENSP00000347397:R777W	R	-	1	2	NTRK3	86221319	0.317000	0.24589	1.000000	0.80357	0.989000	0.77384	0.025000	0.13577	0.645000	0.30675	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	39	203	0	45	0	7.237875e-02	0	3	0	45	2		0	0	0	0	0	2	1	1	39	199	0	45	2								-3.049021	1	1	121412	1	30	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
NTRK3	4916	broad.mit.edu	37	15	88472622	88472622	+	Missense_Mutation	SNP	G	G	A	rs139392904	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88472622G>A	ENST00000360948.2	-	16	2094	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C|NTRK3_ENST00000394480.2_Missense_Mutation_p.R645C|NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C|NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		ETV6/NTRK3(238)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)		TTGGCCTGGCGTGGCTGTCCA	0.587000			T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)					Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0							SO:0001583	missense			ENST00000360948.2	1	1	hg19	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255390	0.80135	2.27E-4	0.001047	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.059478	0.64402	D	0.000001	D	0.91981	0.7460	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.995;0.992;0.994;0.997	P;P;P;P;P	0.57548	0.684;0.684;0.684;0.556;0.823	D	0.92621	0.6108	10	0.62326	D	0.03	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	547;637;637;645;645	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	C	645;645;637;645;547	ENSP00000377990:R645C;ENSP00000354207:R645C;ENSP00000350356:R637C;ENSP00000347397:R645C;ENSP00000437773:R547C	ENSP00000347397:R645C	R	-	1	0	NTRK3	86273626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.519000	0.60517	2.409000	0.81822	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	26	117	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	26	117	0	39	2								-3.459035	1	1	121412	79	48	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
NTRK3	4916	broad.mit.edu	37	15	88669595	88669595	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88669595C>A	ENST00000360948.2	-	12	1464	c.1303G>T	c.(1303-1305)Gca>Tca	p.A435S	NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000394480.2_Missense_Mutation_p.A435S|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S|NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		ETV6/NTRK3(238)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)		AGTCCAACTGCTATGGATACC	0.438000			T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)					Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0							SO:0001583	missense			ENST00000360948.2	1	1	hg19	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687306	0.68157	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74526	-0.84;-0.79;-0.85;-0.84;-0.73;-0.1;-0.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	M	0.71206	2.165	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;0.997;0.947;1.0;0.999;0.947	D;D;P;D;D;P	0.81914	0.994;0.985;0.677;0.994;0.995;0.677	D	0.86621	0.1879	10	0.66056	D	0.02	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	337;427;427;435;435;435	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	435;435;427;435;337;435;435	ENSP00000377990:A435S;ENSP00000354207:A435S;ENSP00000350356:A427S;ENSP00000347397:A435S;ENSP00000437773:A337S;ENSP00000444673:A435S;ENSP00000318328:A435S	ENSP00000318328:A435S	A	-	1	0	NTRK3	86470599	1.000000	0.71417	0.932000	0.37286	0.122000	0.20287	7.543000	0.82106	2.652000	0.90054	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	18	166	0	46	0	1.080897e-02	0	2	0	46	2		0	0	0	0	0	2	1	9.999825e-01	17	163	0	46	2								-8.747463	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.710000	1.000000	1.000000	0.964873	0.990000	1	9.000000e-01	1
NTRK3	4916	broad.mit.edu	37	15	88799241	88799241	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88799241C>T	ENST00000360948.2	-	2	305	c.144G>A	c.(142-144)ccG>ccA	p.P48P	NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000394480.2_Silent_p.P48P|NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000317501.3_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		ETV6/NTRK3(238)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)		TCCCATCGTCCGGCCGCCGGC	0.547000			T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)					Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0							SO:0001819	synonymous_variant			ENST00000360948.2	1	1	hg19	CCDS32322.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	71	413	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	71	410	0	84	2								-2.775329	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPS11	64963	broad.mit.edu	37	15	89018411	89018411	+	Missense_Mutation	SNP	C	C	T	rs149047976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89018411C>T	ENST00000325844.4	+	4	617	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	p.R118W(1)		3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)		AGAGGGATTTCGGAATGCCAA	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000325844.4	1	1	hg19	CCDS10342.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049306	0.36181	6.82E-4	0.0	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.37235	1.32;1.21	5.31	4.32	0.51571	.	0.113323	0.56097	D	0.000033	T	0.62780	0.2456	M	0.87269	2.87	0.40465	D	0.980286	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.971;0.99;0.983	T	0.70200	-0.4937	10	0.87932	D	0	-14.4484	12.2988	0.54862	0.2645:0.7355:0.0:0.0	.	117;85;118	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	W	118;85	ENSP00000317376:R118W;ENSP00000318054:R85W	ENSP00000317376:R118W	R	+	1	2	MRPS11	86819415	0.976000	0.34144	0.989000	0.46669	0.900000	0.52787	1.300000	0.33436	2.479000	0.83701	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	1	0	1	57	315	0	60	1	1	97	154	0	60	2		0	0	0	0	0	2	1	1	55	309	0	60	2								-2.971667	1	1	121412	14	43	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DET1	55070	broad.mit.edu	37	15	89073957	89073957	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89073957C>T	ENST00000268148.8	-	2	1125	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	DET1_ENST00000564406.1_Missense_Mutation_p.R338Q|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R338Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)			23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)		TCGCAGCTGCCGCAGTTGGTC	0.493000																								0							SO:0001583	missense			ENST00000268148.8	1	1	hg19	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991526	0.35131	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.65	4.71	0.59529	.	0.048971	0.85682	N	0.000000	T	0.57007	0.2024	L	0.58101	1.795	0.58432	D	0.999997	B;B	0.19817	0.039;0.039	B;B	0.19946	0.016;0.027	T	0.53669	-0.8406	9	0.13470	T	0.59	-28.4679	15.0509	0.71867	0.1428:0.8572:0.0:0.0	.	327;338	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	338;327	.	ENSP00000268148:R327Q	R	-	2	0	DET1	86874961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.277000	0.58939	1.584000	0.49913	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	1	0	1	35	123	0	55	0	9.581094e-01	1	20	0	55	2		0	0	0	0	0	2	1	1	34	123	0	54	2								-3.783197	1	1	120848	1	26	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AEN	64782	broad.mit.edu	37	15	89169883	89169883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89169883G>A	ENST00000332810.3	+	2	594	c.443G>A	c.(442-444)aGg>aAg	p.R148K	AEN_ENST00000379231.3_Missense_Mutation_p.R148K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease			7					AAGTACATCAGGCCTGAGATG	0.602000																								0							SO:0001583	missense			ENST00000332810.3	1	1	hg19	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741046	0.30865	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.27890	1.64;1.64	5.32	1.26	0.21427	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.858239	0.10110	N	0.714869	T	0.09468	0.0233	N	0.01751	-0.74	0.09310	N	0.999997	B;B	0.11235	0.004;0.004	B;B	0.16289	0.009;0.015	T	0.37056	-0.9722	10	0.09590	T	0.72	-11.5789	3.8604	0.08993	0.2922:0.0:0.4457:0.2621	.	148;148	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	K	148	ENSP00000331944:R148K;ENSP00000368533:R148K	ENSP00000331944:R148K	R	+	2	0	AEN	86970887	0.986000	0.35501	0.946000	0.38457	0.965000	0.64279	1.355000	0.34068	-0.014000	0.14175	0.609000	0.83330	AGG		TCGA-IB-7651-01A-11D-2154-08	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	1	0	1	91	524	0	91	1	9.993034e-01	12	51	0	91	2		0	0	0	0	0	2	1	1	90	516	0	90	2								-3.319004	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAN	176	broad.mit.edu	37	15	89400789	89400789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400789C>T	ENST00000561243.1	+	11	4973	c.4973C>T	c.(4972-4974)aCt>aTt	p.T1658I	ACAN_ENST00000559004.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000439576.2_Missense_Mutation_p.T1658I			P16112	PGCA_HUMAN	aggrecan			93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)		GGATTCCCAACTGTTTCCCTA	0.532000																								0							SO:0001583	missense			ENST00000561243.1	1	1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956519	0.73902	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03607	4.13;3.87	5.86	5.86	0.93980	.	0.000000	0.33553	N	0.004785	T	0.22044	0.0531	M	0.82823	2.61	0.36779	D	0.884243	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01298	-1.1392	10	0.45353	T	0.12	-19.2149	19.1747	0.93599	0.0:1.0:0.0:0.0	.	1658;1658	E7ENV9;E7EX88	.;.	I	1658;1658;1544	ENSP00000387356:T1658I;ENSP00000341615:T1658I	ENSP00000268134:T1544I	T	+	2	0	ACAN	87201793	0.992000	0.36948	0.973000	0.42090	0.998000	0.95712	3.920000	0.56446	2.775000	0.95449	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	0	0	1	118	586	0	150	0	2.860909e-02	0	2	0	150	2		0	0	0	0	0	2	1	1	117	577	0	150	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAN	176	broad.mit.edu	37	15	89400831	89400831	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400831C>A	ENST00000561243.1	+	11	5015	c.5015C>A	c.(5014-5016)gCc>gAc	p.A1672D	ACAN_ENST00000559004.1_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D|ACAN_ENST00000439576.2_Missense_Mutation_p.A1672D			P16112	PGCA_HUMAN	aggrecan			93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)		GTGGTCACAGCCTCCACTGCA	0.537000																								0							SO:0001583	missense			ENST00000561243.1	1	1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371721	0.24857	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02606	4.47;4.23	5.86	4.94	0.65067	.	0.532223	0.14184	N	0.335806	T	0.10637	0.0260	M	0.65975	2.015	0.09310	N	0.99999	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.968	T	0.24225	-1.0166	10	0.21014	T	0.42	-14.2096	8.8309	0.35082	0.149:0.7764:0.0:0.0746	.	1672;1672	E7ENV9;E7EX88	.;.	D	1672;1672;1558	ENSP00000387356:A1672D;ENSP00000341615:A1672D	ENSP00000268134:A1558D	A	+	2	0	ACAN	87201835	0.542000	0.26426	0.997000	0.53966	0.880000	0.50808	1.432000	0.34936	1.477000	0.48234	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	1	0	1	114	610	0	175	0	3.070600e-01	0	7	0	175	2		0	0	0	0	0	2	1	1	113	601	0	173	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAN	176	broad.mit.edu	37	15	89402178	89402178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89402178G>T	ENST00000561243.1	+	11	6362	c.6362G>T	c.(6361-6363)aGa>aTa	p.R2121I	ACAN_ENST00000559004.1_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I|ACAN_ENST00000439576.2_Missense_Mutation_p.R2121I			P16112	PGCA_HUMAN	aggrecan			93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)		GAGGCCAGCAGAGAAGATTCT	0.562000																								0							SO:0001583	missense			ENST00000561243.1	1	1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	5.291	0.239075	0.10023	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02140	4.69;4.43	4.31	3.37	0.38596	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	D;D	0.57571	0.964;0.98	P;P	0.46275	0.51;0.51	T	0.54938	-0.8218	9	0.36615	T	0.2	-2.7329	9.1516	0.36967	0.0:0.1486:0.6761:0.1753	.	2121;2121	E7ENV9;E7EX88	.;.	I	2121;2121;2007	ENSP00000387356:R2121I;ENSP00000341615:R2121I	ENSP00000268134:R2007I	R	+	2	0	ACAN	87203182	0.062000	0.20869	0.042000	0.18584	0.015000	0.08874	1.400000	0.34577	0.900000	0.36469	-0.494000	0.04653	AGA		TCGA-IB-7651-01A-11D-2154-08	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	1	0	1	51	299	0	93	0	1.616653e-01	0	5	0	93	2		0	0	0	0	0	2	1	1	51	293	0	92	2								-3.077929	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ACAN	176	broad.mit.edu	37	15	89403630	89403630	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89403630C>T	ENST00000561243.1	+	12	6906	c.6906C>T	c.(6904-6906)tgC>tgT	p.C2302C	ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Silent_p.C2302C			P16112	PGCA_HUMAN	aggrecan			93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)		ACGTCATATGCCTGTGCCCCC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000561243.1	1	1	hg19	CCDS53970.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	1	0	1	15	106	0	33	0	4.836507e-02	0	3	0	33	2		0	0	0	0	0	2	1	9.999080e-01	15	106	0	33	2								-19.999640	1	1	120994	1	27	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.850000	1.000000	1.000000	0.991036	0.990000	1	9.900000e-01	1
HAPLN3	145864	broad.mit.edu	37	15	89421380	89421380	+	Missense_Mutation	SNP	C	C	T	rs145650819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421380C>T	ENST00000359595.3	-	5	1118	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A364T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3			17	Lung NSC(78;0.0392)|all_lung(78;0.077)			Hyaluronan(DB08818)	AACTTCCAGGCGGCAAAGAGC	0.632000																								0							SO:0001583	missense			ENST00000359595.3	1	1	hg19	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563356	0.86335	0.0	1.16E-4	ENSG00000140511	ENST00000359595	T	0.18502	2.21	4.7	2.76	0.32466	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.92604	3.325	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.48055	-0.9068	10	0.87932	D	0	-17.0017	8.2766	0.31877	0.1553:0.761:0.0:0.0837	.	302;302	A8K7T8;Q96S86	.;HPLN3_HUMAN	T	302	ENSP00000352606:A302T	ENSP00000352606:A302T	A	-	1	0	HAPLN3	87222384	1.000000	0.71417	0.544000	0.28141	0.929000	0.56500	7.391000	0.79828	0.481000	0.27557	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	0	0	0	33	934	0	161	1	9.753351e-01	2	166	0	161	2		0	0	0	0	0	2	1	1	32	915	0	158	2								-3.044896	1	0	121412	2	42	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.390000	0.270000	0.540000	0.390000	0.408917	0.390000	0	3.300000e-01	4.700000e-01
HAPLN3	145864	broad.mit.edu	37	15	89421412	89421412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421412G>A	ENST00000359595.3	-	5	1086	c.872C>T	c.(871-873)gCc>gTc	p.A291V	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A353V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3			17	Lung NSC(78;0.0392)|all_lung(78;0.077)			Hyaluronan(DB08818)	GGCGATCGTGGCATCATCTTC	0.647000																								0							SO:0001583	missense			ENST00000359595.3	1	1	hg19	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170122	0.57584	.	.	ENSG00000140511	ENST00000359595	T	0.47869	0.83	4.7	4.7	0.59300	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.181464	0.46758	D	0.000268	T	0.79209	0.4407	H	0.96604	3.85	0.44652	D	0.997635	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.87004	0.2118	10	0.87932	D	0	-25.7978	16.5998	0.84810	0.0:0.0:1.0:0.0	.	291;291	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	291	ENSP00000352606:A291V	ENSP00000352606:A291V	A	-	2	0	HAPLN3	87222416	1.000000	0.71417	0.264000	0.24511	0.010000	0.07245	5.495000	0.66912	2.306000	0.77630	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	1	0	1	161	805	0	165	1	1	9	145	0	165	2		0	0	0	0	0	2	1	1	160	790	0	163	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAPLN3	145864	broad.mit.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3			17	Lung NSC(78;0.0392)|all_lung(78;0.077)			Hyaluronan(DB08818)	GACACGCACACGCCGCGGGGA	0.657000																								0							SO:0001583	missense			ENST00000359595.3	1	1	hg19	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	4.290	0.052971	0.08291	.	.	ENSG00000140511	ENST00000359595	T	0.64991	-0.13	4.22	1.13	0.20643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.478425	0.18864	N	0.129039	T	0.38692	0.1050	N	0.11927	0.2	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21546	0.035;0.035	T	0.19484	-1.0304	10	0.37606	T	0.19	-2.6237	7.3451	0.26658	0.0:0.2601:0.2903:0.4496	.	83;83	A8K7T8;Q96S86	.;HPLN3_HUMAN	H	83	ENSP00000352606:R83H	ENSP00000352606:R83H	R	-	2	0	HAPLN3	87225837	0.540000	0.26410	0.013000	0.15412	0.006000	0.05464	0.918000	0.28678	-0.072000	0.12864	-0.823000	0.03104	CGT		TCGA-IB-7651-01A-11D-2154-08	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	1	0	1	114	504	0	110	1	1	7	151	0	110	2		0	0	0	0	0	2	1	1	105	466	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RLBP1	6017	broad.mit.edu	37	15	89758374	89758374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89758374G>T	ENST00000268125.5	-	6	881	c.442C>A	c.(442-444)Ctc>Atc	p.L148I		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1			18	Lung NSC(78;0.0472)|all_lung(78;0.089)			Vitamin A(DB00162)	CGACTAGAGAGGACACCAGGG	0.542000																								0							SO:0001583	missense			ENST00000268125.5	1	1	hg19	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362622	0.82353	.	.	ENSG00000140522	ENST00000268125	T	0.74737	-0.87	4.8	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87315	0.2314	10	0.72032	D	0.01	-14.822	11.386	0.49785	0.0835:0.0:0.9165:0.0	.	148	P12271	RLBP1_HUMAN	I	148	ENSP00000268125:L148I	ENSP00000268125:L148I	L	-	1	0	RLBP1	87559378	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.433000	0.80362	2.229000	0.72834	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	1	0	1	123	482	0	124	1	1.086182e-01	3	0	0	124	2		0	0	0	0	0	2	1	1	119	474	0	123	2								-3.411438	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLG	5428	broad.mit.edu	37	15	89865049	89865049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89865049G>A	ENST00000268124.5	-	16	2849	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	POLG_ENST00000442287.2_Missense_Mutation_p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma			33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)		GGGCAGGATGGCCCCATAGAG	0.622000								DNA polymerases (catalytic subunits)					Colon(73;648 1203 11348 18386 27782)											0							SO:0001583	missense			ENST00000268124.5	1	1	hg19	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938706	0.92526	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98362	-4.89;-4.89	5.37	5.37	0.77165	DNA-directed DNA polymerase, family A, palm domain (1);	0.103397	0.64402	D	0.000003	D	0.97993	0.9339	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.97162	0.9838	10	0.13108	T	0.6	-20.404	14.6815	0.69020	0.0:0.145:0.855:0.0	.	839	P54098	DPOG1_HUMAN	V	839	ENSP00000268124:A839V;ENSP00000399851:A839V	ENSP00000268124:A839V	A	-	2	0	POLG	87666053	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.478000	0.81082	2.529000	0.85273	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	1	0	1	73	341	0	73	1	1	27	90	0	73	2		0	0	0	0	0	2	1	1	71	332	0	71	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLG	5428	broad.mit.edu	37	15	89872050	89872050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872050C>T	ENST00000268124.5	-	5	1369	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	POLG_ENST00000442287.2_Missense_Mutation_p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma			33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)		TCCAGCCAGTCCCAGGATGAG	0.582000								DNA polymerases (catalytic subunits)					Colon(73;648 1203 11348 18386 27782)											0							SO:0001583	missense			ENST00000268124.5	1	1	hg19	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316201	0.95655	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.99376	-5.79;-5.79	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.041214	0.85682	D	0.000000	D	0.99199	0.9722	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	D	0.99924	1.1273	10	0.16896	T	0.51	-35.7266	19.6556	0.95837	0.0:1.0:0.0:0.0	.	346	P54098	DPOG1_HUMAN	N	346	ENSP00000268124:D346N;ENSP00000399851:D346N	ENSP00000268124:D346N	D	-	1	0	POLG	87673054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	1	0	1	71	330	0	83	1	9.999997e-01	17	86	0	83	2		0	0	0	0	0	2	1	1	69	328	0	82	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLG	5428	broad.mit.edu	37	15	89872175	89872175	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872175G>A	ENST00000268124.5	-	4	1355	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	POLG_ENST00000442287.2_Splice_Site_p.A341V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma			33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)		TGCTCTCACCGCTGGGCCTCT	0.632000								DNA polymerases (catalytic subunits)					Colon(73;648 1203 11348 18386 27782)											0							SO:0001630	splice_region_variant			ENST00000268124.5	1	0	hg19	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724842	0.48833	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.92595	-3.07;-3.07	6.06	-7.57	0.01318	Ribonuclease H-like (1);	1.214350	0.05347	N	0.531184	D	0.86648	0.5983	M	0.65975	2.015	0.24342	N	0.99495	B	0.02656	0.0	B	0.01281	0.0	T	0.69339	-0.5171	10	0.27785	T	0.31	0.3442	2.8765	0.05632	0.4242:0.0849:0.3187:0.1722	.	341	P54098	DPOG1_HUMAN	V	341	ENSP00000268124:A341V;ENSP00000399851:A341V	ENSP00000268124:A341V	A	-	2	0	POLG	87673179	0.000000	0.05858	0.028000	0.17463	0.389000	0.30415	-0.861000	0.04268	-1.448000	0.01941	-0.812000	0.03155	GCG		TCGA-IB-7651-01A-11D-2154-08	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	1	0	1	55	205	0	48	1	1	6	104	0	48	2		0	0	0	0	0	2	1	1	55	199	0	48	2								-3.539425	1	1	121412	1	32	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLG	5428	broad.mit.edu	37	15	89873447	89873447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89873447C>T	ENST00000268124.5	-	3	1053	c.720G>A	c.(718-720)tcG>tcA	p.S240S	POLG_ENST00000442287.2_Silent_p.S240S|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma			33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)		GGTCAGCCGGCGACAGCTGGC	0.612000								DNA polymerases (catalytic subunits)					Colon(73;648 1203 11348 18386 27782)											0							SO:0001819	synonymous_variant			ENST00000268124.5	1	1	hg19	CCDS10350.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	1	0	1	20	243	0	82	1	9.547207e-01	6	59	0	82	2		0	0	0	0	0	2	1	9.999949e-01	20	236	0	81	2								-19.999990	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.890000	0.560000	1.000000	1.000000	0.869658	0.890000	1	7.100000e-01	1
PEX11A	8800	broad.mit.edu	37	15	90229721	90229721	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90229721T>G	ENST00000300056.3	-	2	262	c.113A>C	c.(112-114)aAa>aCa	p.K38T	PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Missense_Mutation_p.K38T|PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha			7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		CACCTTCTCTTTGCCAGCTTT	0.408000																								0							SO:0001583	missense			ENST00000300056.3	0	1	hg19	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121402	0.37436	.	.	ENSG00000166821	ENST00000300056	T	0.41065	1.01	5.84	4.52	0.55395	.	0.312733	0.43260	D	0.000592	T	0.28632	0.0709	L	0.35487	1.065	0.80722	D	1	B	0.16166	0.016	B	0.21917	0.037	T	0.09292	-1.0681	10	0.19590	T	0.45	-4.2629	7.6494	0.28340	0.0:0.0815:0.1433:0.7751	.	38	O75192	PX11A_HUMAN	T	38	ENSP00000300056:K38T	ENSP00000300056:K38T	K	-	2	0	PEX11A	88030725	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.014000	0.29950	2.229000	0.72834	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	0	0	0	8	443	0	100	0	9.786277e-02	1	25	0	100	2		0	0	0	0	0	2	1	9.887042e-01	8	435	0	97	2								-7.480090	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.210000	0.090000	0.390000	0.210000	0.230163	0.210000	0	1.500000e-01	3.000000e-01
ANPEP	290	broad.mit.edu	37	15	90340856	90340856	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90340856T>A	ENST00000300060.6	-	15	2420	c.2107A>T	c.(2107-2109)Agc>Tgc	p.S703C	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase			57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)	Ezetimibe(DB00973)|Icatibant(DB06196)	TTGAAGTAGCTCAGGCTGCTC	0.572000													NSCLC(30;827 977 2459 19669 26125)											0							SO:0001583	missense			ENST00000300060.6	1	1	hg19	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825501	0.71143	.	.	ENSG00000166825	ENST00000300060	T	0.06528	3.29	5.46	2.99	0.34606	.	0.496209	0.25631	N	0.029345	T	0.17704	0.0425	M	0.85197	2.74	0.09310	N	1	D	0.52996	0.957	P	0.54856	0.762	T	0.03945	-1.0990	10	0.56958	D	0.05	.	7.11	0.25384	0.0:0.0811:0.2142:0.7047	.	703	P15144	AMPN_HUMAN	C	703	ENSP00000300060:S703C	ENSP00000300060:S703C	S	-	1	0	ANPEP	88141860	0.000000	0.05858	0.979000	0.43373	0.995000	0.86356	-0.112000	0.10791	1.012000	0.39366	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1	1	0	1	142	647	0	171	1	1	142	177	0	171	2		0	0	0	0	0	2	1	1	139	639	0	170	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANPEP	290	broad.mit.edu	37	15	90342699	90342699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90342699C>A	ENST00000300060.6	-	13	2224	c.1911G>T	c.(1909-1911)gaG>gaT	p.E637D	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase			57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)	Ezetimibe(DB00973)|Icatibant(DB06196)	TCCTCCAGTTCTCTTCGTCGT	0.577000													NSCLC(30;827 977 2459 19669 26125)											0							SO:0001583	missense			ENST00000300060.6	1	1	hg19	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	2.615	-0.289855	0.05568	.	.	ENSG00000166825	ENST00000300060	T	0.29397	1.57	5.15	0.631	0.17699	.	1.719790	0.02482	N	0.088618	T	0.21227	0.0511	N	0.17631	0.505	0.21719	N	0.999573	B	0.06786	0.001	B	0.15052	0.012	T	0.20806	-1.0264	10	0.10377	T	0.69	.	10.3218	0.43771	0.0:0.5417:0.3197:0.1385	.	637	P15144	AMPN_HUMAN	D	637	ENSP00000300060:E637D	ENSP00000300060:E637D	E	-	3	2	ANPEP	88143703	0.000000	0.05858	0.287000	0.24848	0.281000	0.26958	-0.806000	0.04525	0.154000	0.19237	-0.256000	0.11100	GAG		TCGA-IB-7651-01A-11D-2154-08	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1	0	0	0	14	338	0	69	1	9.999514e-01	33	400	0	69	2		0	0	0	0	0	2	1	9.997537e-01	14	335	0	69	2								-14.716170	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.470000	0.270000	0.730000	0.460000	0.489324	0.470000	0	3.600000e-01	6.100000e-01
ANPEP	290	broad.mit.edu	37	15	90346982	90346982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90346982C>T	ENST00000300060.6	-	8	1646	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase			57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)	Ezetimibe(DB00973)|Icatibant(DB06196)	GCATCCACTGCCATCACGCGG	0.612000													NSCLC(30;827 977 2459 19669 26125)											0							SO:0001583	missense			ENST00000300060.6	1	1	hg19	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939934	0.52972	.	.	ENSG00000166825	ENST00000300060	T	0.02787	4.16	4.58	4.58	0.56647	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.054594	0.64402	D	0.000001	T	0.05914	0.0154	L	0.46885	1.475	0.44061	D	0.996802	P	0.43633	0.813	P	0.48952	0.596	T	0.55328	-0.8158	10	0.16420	T	0.52	.	14.8532	0.70313	0.0:1.0:0.0:0.0	.	445	P15144	AMPN_HUMAN	T	445	ENSP00000300060:A445T	ENSP00000300060:A445T	A	-	1	0	ANPEP	88147986	1.000000	0.71417	0.997000	0.53966	0.130000	0.20726	3.163000	0.50763	2.093000	0.63338	0.305000	0.20034	GCA		TCGA-IB-7651-01A-11D-2154-08	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1	1	0	1	42	305	0	83	1	9.999995e-01	87	74	0	83	2		0	0	0	0	0	2	1	1	42	303	0	82	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999344	0.990000	1	9.900000e-01	1
ANPEP	290	broad.mit.edu	37	15	90348375	90348375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90348375C>T	ENST00000300060.6	-	4	1144	c.831G>A	c.(829-831)acG>acA	p.T277T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	p.T277T(1)		57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)	Ezetimibe(DB00973)|Icatibant(DB06196)	CCAGCAAGTACGTGGACATCT	0.567000													NSCLC(30;827 977 2459 19669 26125)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000300060.6	1	1	hg19	CCDS10356.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1	1	0	1	165	724	0	161	1	1	39	148	0	161	2		0	0	0	0	0	2	1	1	161	710	0	159	2								-20.000000	1	1	121412	5	41	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IDH2	3418	broad.mit.edu	37	15	90631667	90631667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631667C>T	ENST00000330062.3	-	5	715	c.602G>A	c.(601-603)gGc>gAc	p.G201D	IDH2_ENST00000539790.1_Missense_Mutation_p.G71D|IDH2_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000559482.1_Missense_Mutation_p.G92D	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial			1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		GACACCACTGCCATCTTTTGG	0.587000			M		GBM										Dom	yes		15	15q26.1	3418	socitrate dehydrogenase 2 (NADP+), mitochondrial 		M	0							SO:0001583	missense			ENST00000330062.3	1	1	hg19	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819696	0.50633	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.79033	-1.23;-1.23;-1.23	5.8	5.8	0.92144	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	H	0.94385	3.53	0.80722	D	1	D;D	0.69078	0.997;0.973	D;D	0.68483	0.955;0.958	D	0.93049	0.6464	10	0.72032	D	0.01	.	17.553	0.87881	0.0:1.0:0.0:0.0	.	201;201	Q53GL5;P48735	.;IDHP_HUMAN	D	201;71;149	ENSP00000331897:G201D;ENSP00000438457:G71D;ENSP00000446147:G149D	ENSP00000331897:G201D	G	-	2	0	IDH2	88432671	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.781000	0.85668	2.747000	0.94245	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1	1	0	1	128	472	0	98	1	1	66	329	0	98	2		0	0	0	0	0	2	1	1	128	460	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IDH2	3418	broad.mit.edu	37	15	90631926	90631926	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631926G>T	ENST00000330062.3	-	4	540	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	IDH2_ENST00000539790.1_Missense_Mutation_p.L13M|IDH2_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial			1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		GTCCCCCCCAGGATGTTCCGG	0.552000			M		GBM										Dom	yes		15	15q26.1	3418	socitrate dehydrogenase 2 (NADP+), mitochondrial 		M	0							SO:0001583	missense			ENST00000330062.3	1	1	hg19	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225975	0.39300	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.85955	-2.05;-2.05;-2.05	5.67	4.56	0.56223	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.64402	D	0.000001	D	0.94571	0.8251	H	0.98276	4.19	0.44995	D	0.998017	D	0.76494	0.999	D	0.80764	0.994	D	0.94648	0.7836	10	0.87932	D	0	.	8.6475	0.34013	0.1763:0.0:0.8237:0.0	.	143	P48735	IDHP_HUMAN	M	143;13;91	ENSP00000331897:L143M;ENSP00000438457:L13M;ENSP00000446147:L91M	ENSP00000331897:L143M	L	-	1	2	IDH2	88432930	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	2.443000	0.44881	2.666000	0.90696	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1	1	0	1	66	368	0	77	1	1	77	336	0	77	2		0	0	0	0	0	2	1	1	65	358	0	75	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IDH2	3418	broad.mit.edu	37	15	90631955	90631955	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631955T>C	ENST00000330062.3	-	4	511	c.398A>G	c.(397-399)aAa>aGa	p.K133R	IDH2_ENST00000539790.1_Missense_Mutation_p.K3R|IDH2_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial			1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		ATTGGGACTTTTCCACATCTT	0.517000			M		GBM										Dom	yes		15	15q26.1	3418	socitrate dehydrogenase 2 (NADP+), mitochondrial 		M	0							SO:0001583	missense			ENST00000330062.3	1	1	hg19	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639058	0.29157	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.73258	-0.73;-0.73;-0.73	5.67	4.53	0.55603	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	N	0.25144	0.715	0.42806	D	0.993945	B	0.09022	0.002	B	0.11329	0.006	T	0.45352	-0.9267	10	0.21540	T	0.41	.	11.1028	0.48186	0.0:0.0:0.1553:0.8447	.	133	P48735	IDHP_HUMAN	R	133;3;81	ENSP00000331897:K133R;ENSP00000438457:K3R;ENSP00000446147:K81R	ENSP00000331897:K133R	K	-	2	0	IDH2	88432959	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	6.238000	0.72350	0.952000	0.37798	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1	1	0	1	58	343	0	68	1	1	85	290	0	68	2		0	0	0	0	0	2	1	1	57	336	0	67	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SEMA4B	10509	broad.mit.edu	37	15	90766793	90766793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90766793C>T	ENST00000411539.2	+	8	1124	c.864C>T	c.(862-864)ggC>ggT	p.G288G	SEMA4B_ENST00000379122.3_Silent_p.G283G|SEMA4B_ENST00000332496.6_Silent_p.G288G	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B			12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		CCCTCCAGGGCGATGAGGGTG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000411539.2	1	1	hg19	CCDS45347.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	1	0	1	16	95	0	27	1	1	183	245	0	27	2		0	0	0	0	0	2	1	9.999529e-01	16	94	0	27	2								-20.000000	1	1	121046	2	31	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997510	0.990000	1	9.900000e-01	1
CIB1	10519	broad.mit.edu	37	15	90774380	90774380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774380C>A	ENST00000328649.6	-	5	573	c.412G>T	c.(412-414)Gag>Tag	p.E138*	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)			2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		TCCTCGCCCTCTCCCGTGAGG	0.582000																								0							SO:0001587	stop_gained			ENST00000328649.6	0	1	hg19	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246815	0.80024	.	.	ENSG00000185043	ENST00000328649	.	.	.	5.44	3.53	0.40419	.	0.337042	0.33496	N	0.004852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-20.3041	9.9796	0.41806	0.0:0.6325:0.2911:0.0764	.	.	.	.	X	138	.	ENSP00000333873:E138X	E	-	1	0	CIB1	88575384	0.996000	0.38824	0.944000	0.38274	0.348000	0.29142	3.252000	0.51461	1.284000	0.44531	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1	1	0	0	51	376	0	97	1	1	45	824	0	97	2		0	0	0	0	0	2	1	1	47	367	0	97	2								-3.142705	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999604	0.990000	1	9.900000e-01	1
CIB1	10519	broad.mit.edu	37	15	90774446	90774446	+	Splice_Site	SNP	C	C	T	rs147788051	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774446C>T	ENST00000328649.6	-	5	508		c.e5-1		GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)			2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		TCATCAAAGTCTAGAGAGCAG	0.582000																								0							SO:0001630	splice_region_variant			ENST00000328649.6	1	0	hg19	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314714	0.81358	.	.	ENSG00000185043	ENST00000328649	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5535	0.87884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CIB1	88575450	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	7.487000	0.81328	2.389000	0.81357	0.467000	0.42956	.		TCGA-IB-7651-01A-11D-2154-08	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1	1	0	1	61	400	0	110	1	9.998462e-01	83	3	0	110	2		0	0	0	0	0	2	1	1	63	397	0	110	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
NGRN	51335	broad.mit.edu	37	15	90809089	90809089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90809089G>A	ENST00000379095.3	+	1	153	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RP11-697E2.6_ENST00000561573.1_Intron|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated			11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		GGAGGAACGGGAGCTGCAGGA	0.751000																								0							SO:0001583	missense			ENST00000379095.3	0	1	hg19	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331857	0.41297	.	.	ENSG00000182768	ENST00000379095	T	0.30981	1.51	4.77	3.86	0.44501	.	0.104340	0.36591	U	0.002516	T	0.27134	0.0665	L	0.32530	0.975	0.32686	N	0.514831	P	0.43094	0.799	P	0.50537	0.643	T	0.14643	-1.0465	10	0.07030	T	0.85	.	8.6983	0.34310	0.1017:0.0:0.8983:0.0	.	49	Q9NPE2	NGRN_HUMAN	K	49	ENSP00000368389:E49K	ENSP00000368389:E49K	E	+	1	0	NGRN	88610093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.552000	0.45828	1.250000	0.43966	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1	1	0	1	22	81	0	10	1	9.998893e-01	22	38	0	10	2		0	0	0	0	0	2	1	9.999994e-01	22	79	0	8	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
NGRN	51335	broad.mit.edu	37	15	90814847	90814847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90814847C>T	ENST00000379095.3	+	3	711	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated			11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		AAGAGAGCTGCAGAAGTACTC	0.517000																								0							SO:0001587	stop_gained			ENST00000379095.3	0	1	hg19	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583783	0.46006	.	.	ENSG00000182768	ENST00000379095	.	.	.	3.67	2.74	0.32292	.	0.433136	0.19828	U	0.105146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.6392	0.45584	0.1933:0.8067:0.0:0.0	.	.	.	.	X	235	.	ENSP00000368389:Q235X	Q	+	1	0	NGRN	88615851	0.167000	0.22975	0.003000	0.11579	0.323000	0.28346	1.272000	0.33109	1.108000	0.41662	0.557000	0.71058	CAG		TCGA-IB-7651-01A-11D-2154-08	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1	1	0	0	13	193	0	50	1	1	40	707	0	50	2		0	0	0	0	0	2	1	9.995127e-01	13	188	0	50	2								-16.825910	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.740000	0.420000	1.000000	1.000000	0.754227	0.740000	0	5.600000e-01	9.600000e-01
ZNF774	342132	broad.mit.edu	37	15	90904469	90904469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90904469G>A	ENST00000354377.3	+	4	1592	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774			14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		AAGAGCTTCCGTCAGAAAGCG	0.433000																								0							SO:0001583	missense			ENST00000354377.3	1	1	hg19	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019029	0.54576	0.0	1.16E-4	ENSG00000196391	ENST00000354377	T	0.18016	2.24	5.86	-3.2	0.05156	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33438	U	0.004915	T	0.24122	0.0584	M	0.62016	1.91	0.39717	D	0.97141	D	0.76494	0.999	D	0.65773	0.938	T	0.25779	-1.0122	10	0.54805	T	0.06	.	1.1591	0.01802	0.4239:0.1154:0.2257:0.2349	.	469	Q6NX45	ZN774_HUMAN	H	469	ENSP00000346348:R469H	ENSP00000346348:R469H	R	+	2	0	ZNF774	88705473	0.000000	0.05858	0.122000	0.21767	0.870000	0.49936	0.565000	0.23578	-0.543000	0.06240	-0.244000	0.11960	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	1	0	1	113	440	0	113	1	6.908857e-01	6	5	0	113	2		0	0	0	0	0	2	1	1	113	432	0	112	2								-20.000000	1	1	121412	2	38	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQGAP1	8826	broad.mit.edu	37	15	91017342	91017342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91017342C>T	ENST00000268182.5	+	22	2676	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1			59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		GCAAACAAAGCTCGGGATGAC	0.433000																								0							SO:0001583	missense			ENST00000268182.5	1	1	hg19	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654607	0.96724	.	.	ENSG00000140575	ENST00000268182	T	0.02498	4.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	M	0.80616	2.505	0.80722	D	1	D	0.59767	0.986	P	0.59012	0.85	T	0.00127	-1.2019	10	0.46703	T	0.11	-14.4008	18.7225	0.91700	0.0:1.0:0.0:0.0	.	851	P46940	IQGA1_HUMAN	V	851	ENSP00000268182:A851V	ENSP00000268182:A851V	A	+	2	0	IQGAP1	88818346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.746000	0.94184	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	1	0	1	43	198	0	33	1	1	159	360	0	33	2		0	0	0	0	0	2	1	1	42	195	0	32	2								-3.425203	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRTC3	64784	broad.mit.edu	37	15	91083357	91083357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91083357G>A	ENST00000268184.6	+	2	223	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000420329.2_Silent_p.A73A|CRTC3_ENST00000560098.1_Silent_p.A73A			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3		CRTC3/MAML2(26)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)		GGAGCAGTGCGTCAGAGTTTC	0.423000			T	MAML2	salivary gland mucoepidermoid										Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0							SO:0001819	synonymous_variant			ENST00000268184.6	1	1	hg19	CCDS32331.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	1	0	1	53	175	0	55	1	9.999999e-01	11	77	0	55	2		0	0	0	0	0	2	1	1	51	175	0	54	2								-4.304804	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BLM	641	broad.mit.edu	37	15	91303942	91303942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91303942G>A	ENST00000355112.3	+	7	1457	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	BLM_ENST00000560509.1_Missense_Mutation_p.G447R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like			51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)		CTGCCCTACAGGGAATTCTAT	0.438000			Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0							SO:0001583	missense	Familial Cancer Database		ENST00000355112.3	1	1	hg19	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987362	0.35036	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.47869	0.83	5.83	4.91	0.64330	.	2.117220	0.01426	N	0.014550	T	0.43255	0.1239	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17038	0.002;0.02;0.002	B;B;B	0.12837	0.004;0.008;0.004	T	0.35126	-0.9801	10	0.17369	T	0.5	-10.5917	12.8054	0.57610	0.0:0.1764:0.8236:0.0	.	447;72;447	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	R	447;100	ENSP00000347232:G447R	ENSP00000347232:G447R	G	+	1	0	BLM	89104946	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.501000	0.22578	1.458000	0.47871	0.591000	0.81541	GGG		TCGA-IB-7651-01A-11D-2154-08	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	1	0	1	118	566	0	177	0	5.904047e-01	0	11	0	177	2		0	0	0	0	0	2	1	1	117	548	0	176	2								-2.791010	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BLM	641	broad.mit.edu	37	15	91328228	91328228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91328228G>A	ENST00000355112.3	+	14	2858	c.2740G>A	c.(2740-2742)Gct>Act	p.A914T	BLM_ENST00000560509.1_Missense_Mutation_p.A914T|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like			51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)		AGATGGGCTCGCTGCTCTTGC	0.473000			Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0							SO:0001583	missense	Familial Cancer Database		ENST00000355112.3	1	1	hg19	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991236	0.18966	0.0	2.33E-4	ENSG00000197299	ENST00000355112;ENST00000543977	T	0.74947	-0.89	5.84	3.95	0.45737	Helicase, C-terminal (3);	0.299378	0.36665	N	0.002465	T	0.59595	0.2205	N	0.17474	0.49	0.36005	D	0.837663	B;B;B	0.24721	0.015;0.11;0.032	B;B;B	0.29942	0.034;0.109;0.034	T	0.60026	-0.7343	10	0.34782	T	0.22	-14.9564	11.2575	0.49063	0.0:0.138:0.7184:0.1436	.	914;539;914	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	T	914;101	ENSP00000347232:A914T	ENSP00000347232:A914T	A	+	1	0	BLM	89129232	0.252000	0.23972	0.647000	0.29507	0.050000	0.14768	1.471000	0.35365	0.801000	0.34066	-0.152000	0.13540	GCT		TCGA-IB-7651-01A-11D-2154-08	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	0	0	1	72	302	0	80	0	4.779746e-01	0	8	0	80	2		0	0	0	0	0	2	1	1	71	298	0	80	2								-20.000000	1	1	121412	5	38	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BLM	641	broad.mit.edu	37	15	91346826	91346826	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91346826T>G	ENST00000355112.3	+	18	3552	c.3434T>G	c.(3433-3435)cTt>cGt	p.L1145R	BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like			51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)		GCCGAAAGACTTTTTAAAAAG	0.383000			Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0							SO:0001583	missense	Familial Cancer Database		ENST00000355112.3	1	1	hg19	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405061	0.83230	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.56103	0.48	5.65	5.65	0.86999	RQC domain (2);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.90425	3.115	0.80722	D	1	P	0.51791	0.948	P	0.55011	0.766	T	0.79196	-0.1903	10	0.87932	D	0	-1.4901	13.8364	0.63413	0.0:0.0:0.0:1.0	.	1145	P54132	BLM_HUMAN	R	1145;775;332	ENSP00000347232:L1145R	ENSP00000347232:L1145R	L	+	2	0	BLM	89147830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.163000	0.67991	0.459000	0.35465	CTT		TCGA-IB-7651-01A-11D-2154-08	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	1	0	1	86	378	0	95	0	2.346630e-01	0	5	0	95	2		0	0	0	0	0	2	1	1	85	371	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BLM	641	broad.mit.edu	37	15	91347508	91347508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91347508G>T	ENST00000355112.3	+	19	3788	c.3670G>T	c.(3670-3672)Gaa>Taa	p.E1224*	BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like			51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)		AGAACTTACAGAAGTCTGCAA	0.388000			Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0							SO:0001587	stop_gained	Familial Cancer Database		ENST00000355112.3	0	1	hg19	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	44	10.542031	0.99424	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	.	.	.	5.91	5.91	0.95273	.	0.278177	0.39544	N	0.001330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-14.6196	17.7921	0.88555	0.0:0.0:1.0:0.0	.	.	.	.	X	1224;854;411	.	ENSP00000347232:E1224X	E	+	1	0	BLM	89148512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.204000	0.65180	2.802000	0.96397	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	1	0	1	141	596	0	99	0	5.984901e-01	0	10	0	99	2		0	0	0	0	0	2	1	1	138	586	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FURIN	5045	broad.mit.edu	37	15	91424215	91424215	+	Silent	SNP	C	C	T	rs146566561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424215C>T	ENST00000268171.3	+	15	2016	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)			36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)		AGGGGCTGCCCGTACCTCCAG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000268171.3	1	1	hg19	CCDS10364.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	1	0	0	42	501	0	120	1	1	41	488	0	120	2		0	0	0	0	0	2	1	1	40	489	0	117	2								-2.619823	1	1	121412	17	45	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.900000	0.660000	1.000000	1.000000	0.893109	0.900000	1	7.700000e-01	1
FURIN	5045	broad.mit.edu	37	15	91424593	91424593	+	Missense_Mutation	SNP	G	G	A	rs145582614	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424593G>A	ENST00000268171.3	+	16	2149	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)			36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)		CCAAGTCCTCGATACGCACTA	0.662000																								0							SO:0001583	missense			ENST00000268171.3	1	1	hg19	CCDS10364.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.019	-1.466039	0.01053	0.001593	0.0	ENSG00000140564	ENST00000268171	D	0.87103	-2.21	5.02	1.07	0.20283	Growth factor, receptor (1);	0.663946	0.15833	N	0.242409	T	0.58090	0.2098	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53669	-0.8406	10	0.10111	T	0.7	-2.6261	8.3769	0.32449	0.7967:0.0:0.2033:0.0	.	624	P09958	FURIN_HUMAN	N	624	ENSP00000268171:D624N	ENSP00000268171:D624N	D	+	1	0	FURIN	89225597	0.212000	0.23540	0.001000	0.08648	0.046000	0.14306	2.576000	0.46033	0.017000	0.15025	0.555000	0.69702	GAT		TCGA-IB-7651-01A-11D-2154-08	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	1	0	1	122	467	0	118	1	1	93	390	0	118	2		0	0	0	0	0	2	1	1	116	454	0	117	2								-20.000000	1	1	121394	24	46	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FES	2242	broad.mit.edu	37	15	91435948	91435948	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91435948C>T	ENST00000328850.3	+	14	1861	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	FES_ENST00000394302.1_Silent_p.G445G|FES_ENST00000414248.2_Silent_p.G445G|FES_ENST00000450438.2_Silent_p.G445G|FES_ENST00000444422.2_Silent_p.G503G|FES_ENST00000394300.3_Silent_p.G515G	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase			3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)		GGAACTTTGGCGAAGTGTTCA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000328850.3	0	1	hg19	CCDS10365.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	0	0	0	19	80	0	28	0	9.999898e-01	1	90	0	28	2		0	0	0	0	0	2	1	9.999926e-01	19	75	0	28	2								-13.574350	1	1	121366	1	28	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999891	0.990000	1	9.900000e-01	1
MAN2A2	4122	broad.mit.edu	37	15	91447469	91447469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91447469G>A	ENST00000559717.1	+	2	491	c.32G>A	c.(31-33)gGg>gAg	p.G11E	MAN2A2_ENST00000360468.3_Missense_Mutation_p.G11E			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2			47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)		ACAGTGTGTGGGGCTGCCATC	0.567000																								0							SO:0001583	missense			ENST00000559717.1	0	1	hg19	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699651	0.96802	.	.	ENSG00000196547	ENST00000360468	T	0.78816	-1.21	5.14	5.14	0.70334	.	0.104809	0.64402	D	0.000003	D	0.85465	0.5703	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.86549	0.1833	10	0.87932	D	0	-38.6804	17.5858	0.87981	0.0:0.0:1.0:0.0	.	11;11	P49641-1;P49641	.;MA2A2_HUMAN	E	11	ENSP00000353655:G11E	ENSP00000353655:G11E	G	+	2	0	MAN2A2	89248473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.045000	0.93812	2.678000	0.91216	0.555000	0.69702	GGG		TCGA-IB-7651-01A-11D-2154-08	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	0	0	0	17	632	0	134	0	4.709213e-01	0	58	0	134	2		0	0	0	0	0	2	1	9.999608e-01	16	624	0	132	2								-1.968198	0	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.300000	0.180000	0.470000	0.310000	0.321412	0.300000	0	2.400000e-01	3.900000e-01
MAN2A2	4122	broad.mit.edu	37	15	91461902	91461902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91461902G>A	ENST00000559717.1	+	22	3676	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	MAN2A2_ENST00000360468.3_Missense_Mutation_p.A1073T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T|MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000558538.1_3'UTR			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2			47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)		GGCGGAGACCGCACTCATCTT	0.607000																								0							SO:0001583	missense			ENST00000559717.1	1	1	hg19	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528441	0.96446	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83673	-1.75;-1.75;-1.75	5.95	5.95	0.96441	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92293	0.7555	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.995;0.997	D	0.91919	0.5546	10	0.59425	D	0.04	-17.2714	20.458	0.99154	0.0:0.0:1.0:0.0	.	581;701;1073	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	T	1073;581;263	ENSP00000353655:A1073T;ENSP00000388221:A581T;ENSP00000394372:A263T	ENSP00000353655:A1073T	A	+	1	0	MAN2A2	89262906	1.000000	0.71417	0.206000	0.23566	0.062000	0.15995	7.414000	0.80117	2.835000	0.97688	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	1	0	1	24	151	0	40	1	9.999986e-01	24	124	0	40	2		0	0	0	0	0	2	1	9.999997e-01	24	144	0	39	2								-3.326907	1	1	121412	6	35	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999062	0.990000	1	9.900000e-01	1
MAN2A2	4122	broad.mit.edu	37	15	91463007	91463007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91463007G>A	ENST00000559717.1	+	23	3902	c.3443G>A	c.(3442-3444)cGc>cAc	p.R1148H	MAN2A2_ENST00000360468.3_Missense_Mutation_p.R1148H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H|AC068831.15_ENST00000560522.1_RNA			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2			47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)		TTTCGCCTCCGCTTGGGTTAG	0.527000																								0							SO:0001583	missense			ENST00000559717.1	1	1	hg19	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227900	0.58777	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.83419	-1.72;-1.72;-1.72	5.24	5.24	0.73138	Glycoside hydrolase-type carbohydrate-binding (1);	0.128109	0.52532	D	0.000073	T	0.78451	0.4285	L	0.52759	1.655	0.51233	D	0.99991	P;P;B	0.37636	0.603;0.603;0.051	B;B;B	0.28709	0.093;0.059;0.023	T	0.79818	-0.1643	10	0.48119	T	0.1	-29.5313	19.2433	0.93891	0.0:0.0:1.0:0.0	.	656;776;1148	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	1148;656;338	ENSP00000353655:R1148H;ENSP00000388221:R656H;ENSP00000394372:R338H	ENSP00000353655:R1148H	R	+	2	0	MAN2A2	89264011	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.440000	0.59975	2.636000	0.89361	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	0	0	0	15	392	0	85	1	9.597752e-01	6	137	0	85	2		0	0	0	0	0	2	1	9.998434e-01	15	379	0	85	2								-3.543683	1	1	121412	1	37	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.430000	0.250000	0.670000	0.430000	0.452651	0.430000	0	3.300000e-01	5.600000e-01
PRC1	9055	broad.mit.edu	37	15	91512344	91512344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91512344G>A	ENST00000394249.3	-	14	1833	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000361188.5_Intron|PRC1_ENST00000442656.2_Intron	NM_003981.3	NP_003972			protein regulator of cytokinesis 1			25	Lung NSC(78;0.0987)|all_lung(78;0.175)				GAGAGGGACGGATCCTTCTAA	0.488000																								0							SO:0001583	missense			ENST00000394249.3	1	1	hg19	CCDS32334.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662517	0.67700	.	.	ENSG00000198901	ENST00000394249;ENST00000555455	T	0.32023	1.47	5.97	5.05	0.67936	.	0.192367	0.32970	N	0.005440	T	0.27205	0.0667	N	0.22421	0.69	0.80722	D	1	P	0.51449	0.945	P	0.54460	0.753	T	0.02202	-1.1196	10	0.07325	T	0.83	-15.7032	10.1602	0.42847	0.0881:0.0:0.9119:0.0	.	586	O43663	PRC1_HUMAN	S	586;189	ENSP00000377793:P586S	ENSP00000377793:P586S	P	-	1	0	PRC1	89313348	0.999000	0.42202	0.968000	0.41197	0.959000	0.62525	2.695000	0.47043	2.851000	0.98039	0.644000	0.83932	CCG		TCGA-IB-7651-01A-11D-2154-08	PRC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414757.1	1	0	1	21	143	0	65	1	4.350539e-01	4	7	0	65	2		0	0	0	0	0	2	1	9.999981e-01	21	140	0	65	2								-11.172390	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.996994	0.990000	1	9.900000e-01	1
VPS33B	26276	broad.mit.edu	37	15	91548319	91548319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91548319C>T	ENST00000333371.3	-	15	1489	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N|VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)			16	Lung NSC(78;0.0987)|all_lung(78;0.175)				GTAGCTGGTGCTCTCCCGGAT	0.567000																								0							SO:0001583	missense			ENST00000333371.3	1	1	hg19	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742781	0.69418	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.76578	-1.03;-1.03;-1.03	6.04	6.04	0.98038	.	0.124870	0.85682	D	0.000000	T	0.72661	0.3488	L	0.46157	1.445	0.50313	D	0.999867	B;B	0.15719	0.011;0.014	B;B	0.15870	0.008;0.014	T	0.65508	-0.6151	10	0.17369	T	0.5	-21.0209	18.3522	0.90342	0.0:1.0:0.0:0.0	.	352;379	F5H008;Q9H267	.;VP33B_HUMAN	N	379;352;288;334	ENSP00000327650:S379N;ENSP00000444053:S352N;ENSP00000446267:S288N	ENSP00000327650:S379N	S	-	2	0	VPS33B	89349323	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.517000	0.73759	2.873000	0.98535	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	1	0	1	51	308	0	89	1	9.997912e-01	25	53	0	89	2		0	0	0	0	0	2	1	1	50	294	0	89	2								-19.999320	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
SLCO3A1	28232	broad.mit.edu	37	15	92459545	92459545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459545G>A	ENST00000318445.6	+	2	717	c.503G>A	c.(502-504)cGc>cAc	p.R168H	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1			25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)	Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTCATCTGCCGCAACCGGACG	0.701000																								0							SO:0001583	missense			ENST00000318445.6	0	1	hg19	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107290	0.56291	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.39406	1.08;1.08;1.08	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.639808	0.16773	N	0.200114	T	0.32823	0.0842	N	0.11724	0.165	0.80722	D	1	P;D;B	0.59767	0.945;0.986;0.165	B;P;B	0.44696	0.258;0.458;0.046	T	0.27226	-1.0080	10	0.48119	T	0.1	.	18.0315	0.89286	0.0:0.0:1.0:0.0	.	110;168;168	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	H	168;168;110	ENSP00000320634:R168H;ENSP00000387846:R168H;ENSP00000450559:R110H	ENSP00000320634:R168H	R	+	2	0	SLCO3A1	90260549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.999000	0.63934	2.510000	0.84645	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	1	0	0	16	56	0	9	1	9.061966e-01	3	14	0	9	2		0	0	0	0	0	2	1	9.999642e-01	16	55	0	9	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999886	0.990000	1	9.900000e-01	1
SLCO3A1	28232	broad.mit.edu	37	15	92459678	92459678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459678G>A	ENST00000318445.6	+	2	850	c.636G>A	c.(634-636)tcG>tcA	p.S212S	SLCO3A1_ENST00000424469.2_Silent_p.S212S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1			25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)	Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AGGACTCCTCGCTCTATATAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000318445.6	1	1	hg19	CCDS10371.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	1	0	1	20	65	0	17	1	9.882700e-01	3	24	0	17	2		0	0	0	0	0	2	1	9.999978e-01	19	64	0	17	2								-20.000000	1	1	121194	3	34	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
SLCO3A1	28232	broad.mit.edu	37	15	92647576	92647576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92647576C>T	ENST00000318445.6	+	4	1027	c.813C>T	c.(811-813)tgC>tgT	p.C271C	SLCO3A1_ENST00000424469.2_Silent_p.C271C|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1			25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)	Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TTCTGCTCTGCGGTGCCTTAC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000318445.6	1	1	hg19	CCDS10371.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	1	0	0	88	858	0	180	1	9.914410e-01	4	68	0	180	2		0	0	0	0	0	2	1	1	86	840	0	175	2								-19.997080	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.880000	1.000000	1.000000	0.988683	0.990000	1	9.700000e-01	1
CHD2	1106	broad.mit.edu	37	15	93521533	93521533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:93521533G>A	ENST00000394196.4	+	21	3715	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2			47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		GGACACAGTCGTCATCTTTGA	0.493000																								0							SO:0001583	missense			ENST00000394196.4	1	1	hg19	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538166	0.27475	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.71461	-0.57;-0.57	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.31102	U	0.008259	T	0.44074	0.1276	N	0.00894	-1.105	0.80722	D	1	B;P;P	0.35923	0.158;0.528;0.477	B;B;B	0.38500	0.241;0.275;0.051	T	0.56836	-0.7913	10	0.02654	T	1	-17.3595	20.1001	0.97870	0.0:0.0:1.0:0.0	.	883;883;883	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	I	883	ENSP00000377747:V883I;ENSP00000451366:V883I	ENSP00000377747:V883I	V	+	1	0	CHD2	91322537	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.835000	0.99442	2.760000	0.94817	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	1	0	1	79	348	0	94	1	9.999532e-01	20	46	0	94	2		0	0	0	0	0	2	1	1	77	343	0	93	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCTP2	55784	broad.mit.edu	37	15	94841508	94841508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841508A>C	ENST00000357742.4	+	1	14	c.14A>C	c.(13-15)aAa>aCa	p.K5T	MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2			49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		GATCTGGATAAACCATCTGTT	0.433000																								0							SO:0001583	missense			ENST00000357742.4	1	1	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534538	0.45073	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.80033	-1.33;-0.94;-0.75	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000029	D	0.84374	0.5458	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;0.999	D;D;D;P;D	0.83275	0.973;0.996;0.915;0.866;0.973	D	0.86282	0.1668	10	0.72032	D	0.01	.	14.4272	0.67225	1.0:0.0:0.0:0.0	.	5;5;5;5;5	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	T	5	ENSP00000438521:K5T;ENSP00000395109:K5T;ENSP00000350377:K5T	ENSP00000350377:K5T	K	+	2	0	MCTP2	92642512	1.000000	0.71417	0.804000	0.32291	0.100000	0.18952	4.396000	0.59684	1.897000	0.54924	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	1	0	1	93	407	0	95	1	8.257280e-01	3	13	0	95	2		0	0	0	0	0	2	1	1	91	394	0	93	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCTP2	55784	broad.mit.edu	37	15	94841523	94841523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841523G>A	ENST00000357742.4	+	1	29	c.29G>A	c.(28-30)gGc>gAc	p.G10D	MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2			49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		TCTGTTTGGGGCTCATTAAAA	0.463000																								0							SO:0001583	missense			ENST00000357742.4	1	1	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025205	0.35701	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.74947	-0.89;-0.63;-0.48	5.02	2.11	0.27256	.	0.000000	0.53938	D	0.000051	T	0.62998	0.2474	N	0.19112	0.55	0.80722	D	1	P;B;B;P;P	0.46327	0.587;0.412;0.289;0.803;0.876	B;B;B;B;P	0.48166	0.245;0.137;0.065;0.249;0.569	T	0.58092	-0.7697	10	0.42905	T	0.14	.	8.3384	0.32228	0.3112:0.0:0.6888:0.0	.	10;10;10;10;10	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	D	10	ENSP00000438521:G10D;ENSP00000395109:G10D;ENSP00000350377:G10D	ENSP00000350377:G10D	G	+	2	0	MCTP2	92642527	0.999000	0.42202	0.589000	0.28718	0.452000	0.32318	2.963000	0.49184	0.170000	0.19704	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	1	0	1	97	418	0	96	1	8.297392e-01	3	13	0	96	2		0	0	0	0	0	2	1	1	94	405	0	95	2								-20.000000	1	0	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCTP2	55784	broad.mit.edu	37	15	95013650	95013650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:95013650C>T	ENST00000357742.4	+	20	2449	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2			49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		CATTCCACTGCGGTACATCAT	0.408000																								0							SO:0001583	missense			ENST00000357742.4	1	1	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052804	0.75960	0.0	1.16E-4	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.78003	-1.14;-0.56	5.32	5.32	0.75619	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90842	0.4724	10	0.87932	D	0	.	12.5357	0.56140	0.2773:0.7227:0.0:0.0	.	762;817	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	W	762;817	ENSP00000395109:R762W;ENSP00000350377:R817W	ENSP00000350377:R817W	R	+	1	2	MCTP2	92814654	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.820000	0.55693	2.645000	0.89757	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	1	0	1	88	496	0	102	1	9.619974e-01	12	20	0	102	2		0	0	0	0	0	2	1	1	85	487	0	101	2								-6.143841	1	1	121412	14	45	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR2F2	7026	broad.mit.edu	37	15	96875553	96875553	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:96875553G>T	ENST00000394166.3	+	1	1608	c.219G>T	c.(217-219)caG>caT	p.Q73H	NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_5'Flank|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2			17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)		AGCAGCAGCAGCAGCAACACA	0.697000																								0							SO:0001583	missense			ENST00000394166.3	0	1	hg19	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054866	0.19907	.	.	ENSG00000185551	ENST00000394166	D	0.93604	-3.25	4.53	-0.248	0.13015	Zinc finger, NHR/GATA-type (1);	0.234402	0.30277	N	0.009992	D	0.83954	0.5366	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.35550	0.205	T	0.78262	-0.2272	10	0.44086	T	0.13	.	10.2126	0.43150	0.3553:0.0:0.6447:0.0	.	73	P24468	COT2_HUMAN	H	73	ENSP00000377721:Q73H	ENSP00000377721:Q73H	Q	+	3	2	NR2F2	94676557	.	.	0.995000	0.50966	0.297000	0.27493	.	.	0.041000	0.15688	-0.379000	0.06801	CAG		TCGA-IB-7651-01A-11D-2154-08	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1	1	0	0	9	52	0	9	1	9.990026e-01	7	75	0	9	2		0	0	0	0	0	2	1	9.946333e-01	9	50	0	9	2								-17.179070	1	1	121246	1	23	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.820000	1.000000	1.000000	0.989348	0.990000	1	9.900000e-01	1
ARRDC4	91947	broad.mit.edu	37	15	98508838	98508838	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98508838A>G	ENST00000268042.6	+	2	480	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4			16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)		AGGTGAAGGCATCATTTTATT	0.308000																								0							SO:0001583	missense			ENST00000268042.6	1	1	hg19	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	4.406	0.075076	0.08485	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.12984	2.63;3.34	5.81	-1.79	0.07932	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	2.240820	0.01691	N	0.026654	T	0.06600	0.0169	N	0.11927	0.2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22556	-1.0213	10	0.11485	T	0.65	-10.3062	2.6754	0.05080	0.3704:0.1052:0.3795:0.1449	.	106;19	Q8NCT1;F5H824	ARRD4_HUMAN;.	V	19;106	ENSP00000443774:I19V;ENSP00000268042:I106V	ENSP00000268042:I106V	I	+	1	0	ARRDC4	96309842	0.066000	0.20996	0.015000	0.15790	0.964000	0.63967	-0.056000	0.11787	-0.328000	0.08539	0.455000	0.32223	ATC		TCGA-IB-7651-01A-11D-2154-08	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	1	0	1	73	337	0	100	1	9.768747e-01	6	24	0	100	2		0	0	0	0	0	2	1	1	72	330	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARRDC4	91947	broad.mit.edu	37	15	98513913	98513913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98513913C>T	ENST00000268042.6	+	7	1304	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	ARRDC4_ENST00000538249.1_Silent_p.C293C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4			16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)		GAGAAGTGTGCTGTCCTGTGT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000268042.6	1	1	hg19	CCDS10377.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	1	0	1	76	355	0	68	1	9.999989e-01	19	75	0	68	2		0	0	0	0	0	2	1	1	75	351	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM169B	283777	broad.mit.edu	37	15	99023964	99023964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99023964C>T	ENST00000558256.1	-	4	298	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B			7					AAAATAATGGCGTTTAGAATG	0.383000																								0							SO:0001583	missense			ENST00000558256.1	1	1	hg19	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291580	0.23564	.	.	ENSG00000185087	ENST00000332908	T	0.71817	-0.6	5.27	2.1	0.27182	.	0.694331	0.13929	N	0.353052	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16070	-1.0415	10	0.17369	T	0.5	-6.2819	2.9599	0.05889	0.3016:0.4772:0.1264:0.0949	.	17	Q8N8A8	F169B_HUMAN	T	17	ENSP00000332615:A17T	ENSP00000332615:A17T	A	-	1	0	FAM169B	96841487	0.982000	0.34865	0.113000	0.21522	0.798000	0.45092	1.370000	0.34238	1.180000	0.42898	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	1	0	1	39	210	0	46	0	2.592803e-02	0	2	0	46	2		0	0	0	0	0	2	1	1	39	206	0	46	2								-3.242035	1	1	120822	79	47	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
IGF1R	3480	broad.mit.edu	37	15	99456414	99456414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99456414C>T	ENST00000268035.6	+	8	2342	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	IGF1R_ENST00000558762.1_Silent_p.Y577Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor			63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GGACTCAGTACGCCGTTTACG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000268035.6	1	1	hg19	CCDS10378.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	1	0	1	54	309	0	92	0	9.008891e-01	0	25	0	92	2		0	0	0	0	0	2	1	1	54	300	0	92	2								-20.000000	1	1	121412	1	33	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
IGF1R	3480	broad.mit.edu	37	15	99465579	99465579	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99465579G>A	ENST00000268035.6	+	11	3015	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	IGF1R_ENST00000558762.1_Missense_Mutation_p.D802N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor			63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GTACCGCATCGATATCCACAG	0.517000																								0							SO:0001583	missense			ENST00000268035.6	1	1	hg19	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438773	0.96168	.	.	ENSG00000140443	ENST00000268035	T	0.76448	-1.02	5.5	5.5	0.81552	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.88672	0.6500	M	0.78456	2.415	0.80722	D	1	D;P	0.89917	1.0;0.48	D;B	0.97110	1.0;0.048	D	0.88542	0.3110	10	0.51188	T	0.08	.	19.4017	0.94632	0.0:0.0:1.0:0.0	.	802;802	C9J5X1;P08069	.;IGF1R_HUMAN	N	802	ENSP00000268035:D802N	ENSP00000268035:D802N	D	+	1	0	IGF1R	97283102	1.000000	0.71417	0.953000	0.39169	0.880000	0.50808	9.848000	0.99507	2.567000	0.86603	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	1	0	1	72	301	0	96	1	9.910759e-01	2	31	0	96	2		0	0	0	0	0	2	1	1	72	295	0	96	2								-3.288765	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF1R	3480	broad.mit.edu	37	15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99472828G>A	ENST00000268035.6	+	14	3435	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor			63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CGCTCTGCCCGTCGCTGTCCT	0.443000																								0							SO:0001583	missense			ENST00000268035.6	1	1	hg19	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	3.276	-0.148150	0.06627	.	.	ENSG00000140443	ENST00000268035	T	0.75821	-0.97	5.67	-1.99	0.07457	.	0.616206	0.14059	N	0.344184	T	0.37489	0.1005	N	0.02181	-0.65	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.38067	-0.9678	10	0.07175	T	0.84	.	6.0157	0.19601	0.6509:0.0:0.1983:0.1508	.	941;942	C9J5X1;P08069	.;IGF1R_HUMAN	I	942	ENSP00000268035:V942I	ENSP00000268035:V942I	V	+	1	0	IGF1R	97290351	0.659000	0.27411	0.000000	0.03702	0.880000	0.50808	1.193000	0.32162	-0.209000	0.10156	-0.137000	0.14449	GTC		TCGA-IB-7651-01A-11D-2154-08	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	1	0	0	39	448	0	79	1	8.287026e-01	2	37	0	79	2		0	0	0	0	0	2	1	1	38	443	0	79	2								-10.419190	1	1	121412	2	35	1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.930000	0.680000	1.000000	1.000000	0.912536	0.930000	1	8.000000e-01	1
IGF1R	3480	broad.mit.edu	37	15	99500663	99500663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99500663A>G	ENST00000268035.6	+	21	4707	c.4096A>G	c.(4096-4098)Acc>Gcc	p.T1366A	IGF1R_ENST00000558762.1_Missense_Mutation_p.T1365A|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor			63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCAGTCTTCGACCTGCTGATC	0.612000																								0							SO:0001583	missense			ENST00000268035.6	1	1	hg19	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	7.662	0.685143	0.14973	.	.	ENSG00000140443	ENST00000268035	T	0.72615	-0.67	5.67	4.55	0.56014	.	0.101038	0.41396	D	0.000887	T	0.24812	0.0602	N	0.00237	-1.79	0.42249	D	0.991965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47156	-0.9139	10	0.02654	T	1	.	3.2816	0.06917	0.6614:0.0:0.3386:0.0	.	1365;1366	C9J5X1;P08069	.;IGF1R_HUMAN	A	1366	ENSP00000268035:T1366A	ENSP00000268035:T1366A	T	+	1	0	IGF1R	97318186	1.000000	0.71417	0.923000	0.36655	0.965000	0.64279	7.583000	0.82559	2.159000	0.67721	0.455000	0.32223	ACC		TCGA-IB-7651-01A-11D-2154-08	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	0	0	1	61	275	0	55	0	9.750036e-01	1	28	0	55	2		0	0	0	0	0	2	1	1	60	271	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGPEP1L	145814	broad.mit.edu	37	15	99511757	99511757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99511757C>T	ENST00000378919.6	-	5	746	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.A127T|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like			14					TCGAACTGGGCTCTGTGCTTG	0.537000																								0							SO:0001583	missense			ENST00000378919.6	0	1	hg19	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	9.776	1.174029	0.21704	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.31769	1.48	5.39	3.52	0.40303	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.31943	-0.9925	9	0.12430	T	0.62	.	7.48	0.27400	0.0:0.7385:0.0:0.2615	.	181	A6NFU8	PGPIL_HUMAN	T	181;174	ENSP00000368199:A181T	ENSP00000368199:A181T	A	-	1	0	PGPEP1L	97329280	0.004000	0.15560	0.004000	0.12327	0.005000	0.04900	0.273000	0.18662	0.669000	0.31146	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	1	0	1	15	94	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.998987e-01	14	93	0	12	2								-19.999980	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.930000	1.000000	1.000000	0.995732	0.990000	1	9.900000e-01	1
SYNM	23336	broad.mit.edu	37	15	99666928	99666928	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99666928G>A	ENST00000560674.1	+	3	548	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	SYNM_ENST00000336292.6_Splice_Site_p.A312T|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Splice_Site_p.A312T|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein			29					TTTTTACAGGGCCTTATTGGA	0.388000													Pancreas(125;1071 1762 21750 40003 40381)											0							SO:0001630	splice_region_variant			ENST00000560674.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.325606	0.95708	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.88664	-2.41;-2.41	5.83	5.83	0.93111	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95040	0.8394	.	.	.	0.58432	D	0.999998	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.939	D	0.95146	0.8268	8	0.87932	D	0	.	18.6976	0.91607	0.0:0.0:1.0:0.0	.	313;312	O15061;C9JIE4	SYNEM_HUMAN;.	T	312	ENSP00000336775:A312T;ENSP00000330469:A312T	ENSP00000330469:A312T	A	+	1	0	SYNM	97484451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.831000	0.69330	2.770000	0.95276	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	0	0	0	4	34	0	9	1	5.980560e-01	4	13	0	9	2		0	0	0	0	0	2	1	8.736085e-01	3	32	0	9	2								-9.361537	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.430000	1.000000	1.000000	0.909533	0.990000	1	7.400000e-01	1
SYNM	23336	broad.mit.edu	37	15	99670348	99670348	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99670348G>A	ENST00000560674.1	+	4	1394	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	SYNM_ENST00000336292.6_Missense_Mutation_p.G594S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein			29					GTCCCCGAAAGGTTTGCAGAC	0.557000													Pancreas(125;1071 1762 21750 40003 40381)											0							SO:0001583	missense			ENST00000560674.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.06	1.823962	0.32237	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.30981	1.51;1.51	5.76	1.73	0.24493	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	B;B	0.26318	0.144;0.146	B;B	0.22152	0.032;0.038	T	0.21348	-1.0248	8	0.31617	T	0.26	.	5.3931	0.16255	0.2965:0.1425:0.5611:0.0	.	595;594	O15061;C9JIE4	SYNEM_HUMAN;.	S	594	ENSP00000336775:G594S;ENSP00000330469:G594S	ENSP00000330469:G594S	G	+	1	0	SYNM	97487871	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	0.596000	0.24044	0.341000	0.23771	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	0	0	1	50	273	0	75	1	9.543680e-01	10	20	0	75	2		0	0	0	0	0	2	1	1	50	264	0	74	2								-3.151940	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SYNM	23336	broad.mit.edu	37	15	99672987	99672987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99672987C>T	ENST00000560674.1	+	5	3097	c.2628C>T	c.(2626-2628)agC>agT	p.S876S	SYNM_ENST00000336292.6_Silent_p.S1473S|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.S1161S|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein			29					CGATCCGCAGCCGGACACAGG	0.552000													Pancreas(125;1071 1762 21750 40003 40381)											0							SO:0001819	synonymous_variant			ENST00000560674.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	0	0	1	167	962	0	197	1	9.478252e-01	5	25	0	197	2		0	0	0	0	0	2	1	1	165	934	0	194	2								-20.000000	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC23	64927	broad.mit.edu	37	15	99740177	99740177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99740177C>T	ENST00000394132.2	-	9	1523	c.706G>A	c.(706-708)Ggt>Agt	p.G236S	TTC23_ENST00000558613.1_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23			16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		TGCTCTACACCTGCTAATTCT	0.463000																								0							SO:0001583	missense			ENST00000394132.2	1	1	hg19	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808939	0.90707	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.75704	2.57;2.57;2.57;2.57;0.03;-0.96	5.87	3.98	0.46160	Tetratricopeptide-like helical (1);	0.299368	0.36740	N	0.002439	T	0.66436	0.2789	L	0.60455	1.87	0.09310	N	1	B;P	0.48294	0.291;0.908	B;P	0.44422	0.073;0.449	T	0.57087	-0.7871	10	0.07644	T	0.81	-3.1979	8.012	0.30359	0.1572:0.7622:0.0:0.0806	.	236;236	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	S	236	ENSP00000377690:G236S;ENSP00000377693:G236S;ENSP00000262074:G236S;ENSP00000377692:G236S;ENSP00000377688:G236S;ENSP00000457901:G236S	ENSP00000262074:G236S	G	-	1	0	TTC23	97557700	0.024000	0.19004	0.015000	0.15790	0.984000	0.73092	2.426000	0.44731	0.922000	0.37019	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	1	0	1	105	481	0	118	1	9.996432e-01	17	38	0	118	2		0	0	0	0	0	2	1	1	105	476	0	117	2								-3.368756	1	1	0	0		1	0	1	1	1.986442	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOX8	30812	broad.mit.edu	37	16	1034862	1034862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034862G>A	ENST00000293894.3	+	3	932	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8			10		Hepatocellular(780;0.00308)			CAGCAGCGAGGTCATGGGCAC	0.697000																								0							SO:0001583	missense			ENST00000293894.3	1	1	hg19	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054954	0.93793	.	.	ENSG00000005513	ENST00000293894	T	0.80123	-1.34	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	M	0.89163	3.01	0.58432	D	0.999999	D	0.61080	0.989	D	0.64410	0.925	D	0.91694	0.5368	10	0.52906	T	0.07	.	16.342	0.83084	0.0:0.0:1.0:0.0	.	273	P57073	SOX8_HUMAN	I	273	ENSP00000293894:V273I	ENSP00000293894:V273I	V	+	1	0	SOX8	974863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.309000	0.77851	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1	1	0	0	49	199	0	52	0	4.063745e-02	1	1	0	52	2		0	0	0	0	0	2	1	1	49	199	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOX8	30812	broad.mit.edu	37	16	1034993	1034993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034993G>T	ENST00000293894.3	+	3	1063	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8			10		Hepatocellular(780;0.00308)			CCCCCGTGTGGGCCCACAAGA	0.756000																								0							SO:0001583	missense			ENST00000293894.3	1	1	hg19	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057114	0.36277	.	.	ENSG00000005513	ENST00000293894	T	0.75938	-0.98	4.31	3.36	0.38483	.	0.116020	0.64402	D	0.000006	D	0.87059	0.6083	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87194	0.2236	10	0.62326	D	0.03	.	8.6232	0.33872	0.0871:0.1533:0.7596:0.0	.	316	P57073	SOX8_HUMAN	C	316	ENSP00000293894:W316C	ENSP00000293894:W316C	W	+	3	0	SOX8	974994	1.000000	0.71417	0.997000	0.53966	0.612000	0.37316	4.104000	0.57790	1.045000	0.40225	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1	1	0	0	18	63	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	9.999913e-01	18	62	0	14	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
SOX8	30812	broad.mit.edu	37	16	1035032	1035032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1035032C>T	ENST00000293894.3	+	3	1102	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8			10		Hepatocellular(780;0.00308)			CGTCGCCCACCGAGACGGGTC	0.751000																								0							SO:0001819	synonymous_variant			ENST00000293894.3	0	1	hg19	CCDS10428.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1	1	0	0	18	71	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999905e-01	18	70	0	11	2								-20.000000	1	0	113532	4	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999968	0.990000	1	9.900000e-01	1
ATF7IP2	80063	broad.mit.edu	37	16	10532037	10532037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10532037G>A	ENST00000396560.2	+	5	1267	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2			3					TTGAACCAACGCATTGGGAAG	0.333000																								0							SO:0001583	missense			ENST00000396560.2	1	1	hg19	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340217	0.81911	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.55	5.55	0.83447	.	0.213702	0.33534	N	0.004814	T	0.61223	0.2330	L	0.58101	1.795	0.41635	D	0.989044	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.842	T	0.63646	-0.6590	10	0.87932	D	0	-0.259	15.0123	0.71557	0.0:0.0:1.0:0.0	.	347;347	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	347	ENSP00000379807:R347H;ENSP00000379808:R347H;ENSP00000440791:R347H;ENSP00000348799:R347H;ENSP00000322811:R347H	ENSP00000322811:R347H	R	+	2	0	ATF7IP2	10439538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.735000	0.62051	2.602000	0.87976	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	1	0	1	92	392	0	87	0	2.456058e-01	1	4	0	87	2		0	0	0	0	0	2	1	1	91	386	0	86	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEKT5	146279	broad.mit.edu	37	16	10775953	10775953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10775953C>T	ENST00000283025.2	-	4	831	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5			34					CTTTTGTCTTCGAGGTCCCTC	0.542000																								0							SO:0001583	missense			ENST00000283025.2	1	1	hg19	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	6.681	0.494159	0.12702	.	.	ENSG00000153060	ENST00000283025	T	0.02280	4.36	5.05	5.05	0.67936	.	0.239661	0.28865	N	0.013890	T	0.01254	0.0041	N	0.04203	-0.255	0.30759	N	0.74427	B	0.17852	0.024	B	0.17722	0.019	T	0.34428	-0.9829	10	0.27082	T	0.32	-34.5828	6.6583	0.23000	0.1787:0.7307:0.0:0.0906	.	254	Q96M29	TEKT5_HUMAN	K	254	ENSP00000283025:E254K	ENSP00000283025:E254K	E	-	1	0	TEKT5	10683454	0.307000	0.24500	0.915000	0.36163	0.004000	0.04260	0.882000	0.28186	2.331000	0.79229	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	1	0	1	153	615	0	133	0	0	0	1	0	133	2		0	0	0	0	0	2	1	1	151	601	0	133	2								-20.000000	1	1	121412	5	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHBDF1	64285	broad.mit.edu	37	16	108725	108725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:108725C>T	ENST00000262316.6	-	18	2324	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)			18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)			AAGAGGCAGGCCAGGATGCCG	0.647000																								0							SO:0001583	missense			ENST00000262316.6	1	1	hg19	CCDS32344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	30|30	5.049882|5.049882	0.93740|0.93740	.|.	.|.	ENSG00000007384|ENSG00000007384	ENST00000262316|ENST00000448893	T|.	0.12984|.	2.63|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Peptidase S54, rhomboid domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84960|.	0.5588|.	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|.	0.87865|.	0.2667|.	10|.	0.87932|.	D|.	0|.	-34.8431|-34.8431	17.997|17.997	0.89187|0.89187	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	728|.	Q96CC6|.	RHDF1_HUMAN|.	T|X	728|104	ENSP00000262316:A728T|.	ENSP00000262316:A728T|.	A|W	-|-	1|3	0|0	RHBDF1|RHBDF1	48725|48725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.945000|5.945000	0.70226|0.70226	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCC|TGG		TCGA-IB-7651-01A-11D-2154-08	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	1	0	1	16	151	0	32	1	9.998889e-01	25	125	0	32	2		0	0	0	0	0	2	1	9.999364e-01	16	147	0	32	2								-19.999170	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.710000	1.000000	1.000000	0.969355	0.990000	1	9.300000e-01	1
CIITA	4261	broad.mit.edu	37	16	10996534	10996534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10996534G>A	ENST00000324288.8	+	8	781	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.S167S	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator			12					CCAGTTCCTCGTTGAGCTGCC	0.522000			T	FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6	PMBL, Hodgkin Lymphona, 										Dom	yes		16	16p13	4261	class II, major histocompatibility complex, transactivator		L	0							SO:0001819	synonymous_variant			ENST00000324288.8	1	1	hg19	CCDS10544.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	1	0	1	71	288	0	58	1	9.999363e-01	4	56	0	58	2		0	0	0	0	0	2	1	1	71	281	0	56	2								-3.601941	1	1	121412	5	42	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC16A	23274	broad.mit.edu	37	16	11066877	11066877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11066877C>T	ENST00000409790.1	+	7	917	c.687C>T	c.(685-687)agC>agT	p.S229S	CLEC16A_ENST00000409552.3_Silent_p.S227S	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A			37					TCATTGGGAGCCATGTGATCG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000409790.1	1	1	hg19	CCDS45409.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	1	0	1	17	59	0	15	1	9.947928e-01	14	20	0	15	2		0	0	0	0	0	2	1	9.999844e-01	17	59	0	15	2								-14.157080	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
CLEC16A	23274	broad.mit.edu	37	16	11114148	11114148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11114148G>A	ENST00000409790.1	+	12	1632	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A	p.0?(1)		37					GAAAAGCGCCGCCGCCACCTG	0.617000																								1	Whole gene deletion(1)						SO:0001583	missense			ENST00000409790.1	1	1	hg19	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655504	0.67586	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.47177	0.85	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.993;0.994	T	0.56486	-0.7971	10	0.14656	T	0.56	-18.8815	14.6545	0.68823	0.0:0.0:1.0:0.0	.	468;450	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	T	468;468;450	ENSP00000387122:A468T	ENSP00000386495:A450T	A	+	1	0	CLEC16A	11021649	1.000000	0.71417	0.303000	0.25071	0.018000	0.09664	7.199000	0.77831	2.521000	0.84997	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	1	0	1	29	109	0	25	1	9.995981e-01	17	33	0	25	2		0	0	0	0	0	2	1	1	29	107	0	25	2								-19.697720	1	1	120898	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC16A	23274	broad.mit.edu	37	16	11272254	11272254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11272254G>A	ENST00000409790.1	+	24	3099	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A	p.0?(1)		37					AATCGTCAACGAAACGGAAGC	0.607000																								1	Whole gene deletion(1)						SO:0001583	missense			ENST00000409790.1	1	1	hg19	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541002	0.45280	2.31E-4	2.35E-4	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.50813	0.73	4.49	4.49	0.54785	.	0.064355	0.64402	D	0.000014	T	0.61261	0.2333	L	0.46157	1.445	0.27050	N	0.963812	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.935	T	0.56360	-0.7992	10	0.62326	D	0.03	-4.7551	14.7192	0.69294	0.0:0.0:1.0:0.0	.	44;957	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	K	957;957;44	ENSP00000387122:E957K	ENSP00000371244:E44K	E	+	1	0	CLEC16A	11179755	1.000000	0.71417	0.044000	0.18714	0.002000	0.02628	6.109000	0.71528	2.215000	0.71742	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	1	0	1	165	716	0	190	1	9.970986e-01	11	29	0	190	2		0	0	0	0	0	2	1	1	164	704	0	187	2								-3.821062	1	0	121196	25	49	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR5	6755	broad.mit.edu	37	16	1129206	1129206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129206G>A	ENST00000293897.4	+	1	426	c.338G>A	c.(337-339)cGc>cAc	p.R113H	SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H|SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	p.R113H(1)		9		Hepatocellular(780;0.00369)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTCCTGTGCCGCCTGGTCATG	0.652000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000293897.4	0	1	hg19	CCDS10429.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.1	4.705785	0.89018	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.19532	2.14;2.14	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.069740	0.56097	D	0.000032	T	0.37972	0.1023	L	0.54863	1.705	0.48696	D	0.999693	D	0.60160	0.987	P	0.57846	0.828	T	0.17107	-1.0380	10	0.62326	D	0.03	.	16.9817	0.86329	0.0:0.0:1.0:0.0	.	113	P35346	SSR5_HUMAN	H	113	ENSP00000380680:R113H;ENSP00000293897:R113H	ENSP00000293897:R113H	R	+	2	0	SSTR5	1069207	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.360000	0.66086	2.260000	0.74910	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	0	30	307	1	52	0	8.606628e-03	0	2	1	52	2		0	0	0	0	0	2	1	9.425926e-01	28	306	1	51	20								-20.000000	1	1	120708	5	38	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.750000	1.000000	1.000000	0.968836	0.990000	1	9.100000e-01	1
SSTR5	6755	broad.mit.edu	37	16	1129417	1129417	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129417C>T	ENST00000293897.4	+	1	637	c.549C>T	c.(547-549)ggC>ggT	p.G183G	SSTR5_ENST00000397547.2_Silent_p.G183G|SSTR5_ENST00000562758.1_Silent_p.G183G|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5			9		Hepatocellular(780;0.00369)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGCAGGAGGGCGGTACCTGCA	0.716000																								0							SO:0001819	synonymous_variant			ENST00000293897.4	1	1	hg19	CCDS10429.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	1	31	108	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	1	31	107	0	13	2								-20.000000	1	0	119952	13	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR5	6755	broad.mit.edu	37	16	1129482	1129482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129482C>T	ENST00000293897.4	+	1	702	c.614C>T	c.(613-615)aCg>aTg	p.T205M	SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M|SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5			9		Hepatocellular(780;0.00369)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ATCATCTACACGGCCGTGCTG	0.697000																								0							SO:0001583	missense			ENST00000293897.4	0	1	hg19	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563140	0.45694	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.72615	-0.67;-0.67	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	M	0.71871	2.18	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	D	0.84967	0.0880	10	0.59425	D	0.04	.	16.7462	0.85473	0.0:1.0:0.0:0.0	.	205	P35346	SSR5_HUMAN	M	205	ENSP00000380680:T205M;ENSP00000293897:T205M	ENSP00000293897:T205M	T	+	2	0	SSTR5	1069483	1.000000	0.71417	0.968000	0.41197	0.391000	0.30476	7.602000	0.82796	2.202000	0.70862	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	0	9	141	0	20	0	0	1	0	0	20	2		0	0	0	0	0	2	1	9.945021e-01	9	140	0	18	2								-5.109055	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.800000	0.380000	1.000000	1.000000	0.787718	0.800000	0	5.500000e-01	1
SSTR5	6755	broad.mit.edu	37	16	1129709	1129709	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129709G>A	ENST00000293897.4	+	1	929	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5			9		Hepatocellular(780;0.00369)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCAGGAGCCCGCCTCCGCCGG	0.627000																								0							SO:0001583	missense			ENST00000293897.4	1	1	hg19	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314254	0.05422	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.594342	0.17596	N	0.168594	T	0.47820	0.1466	N	0.16602	0.42	0.18873	N	0.999989	B	0.18166	0.026	B	0.21917	0.037	T	0.24440	-1.0160	10	0.18710	T	0.47	.	5.5565	0.17119	0.1766:0.0:0.6637:0.1597	.	281	P35346	SSR5_HUMAN	T	281	ENSP00000380680:A281T;ENSP00000293897:A281T	ENSP00000293897:A281T	A	+	1	0	SSTR5	1069710	0.248000	0.23930	0.861000	0.33841	0.064000	0.16182	3.106000	0.50322	0.401000	0.25424	-0.314000	0.08810	GCC		TCGA-IB-7651-01A-11D-2154-08	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	0	87	341	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	86	337	0	45	2								-3.701565	1	1	120710	4	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHBDF1	64285	broad.mit.edu	37	16	112988	112988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:112988C>T	ENST00000262316.6	-	5	797	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)			18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)			AGCGCTGCGGCCGCCCGGAAG	0.701000																								0							SO:0001583	missense			ENST00000262316.6	1	1	hg19	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.139759	0.56936	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.70164	-0.46;-0.46	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	L	0.46157	1.445	0.80722	D	1	P;P;P	0.48162	0.778;0.906;0.529	B;P;B	0.49561	0.374;0.615;0.361	T	0.65471	-0.6160	10	0.27082	T	0.32	-12.3562	17.0258	0.86446	0.0:1.0:0.0:0.0	.	219;242;219	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	T	219	ENSP00000262316:A219T;ENSP00000392133:A219T	ENSP00000262316:A219T	A	-	1	0	RHBDF1	52988	1.000000	0.71417	0.111000	0.21465	0.256000	0.26092	7.748000	0.85085	2.243000	0.73865	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	1	0	1	43	158	0	21	1	9.999853e-01	21	45	0	21	2		0	0	0	0	0	2	1	1	43	152	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR5	6755	broad.mit.edu	37	16	1129926	1129926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129926C>T	ENST00000293897.4	+	1	1146	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5			9		Hepatocellular(780;0.00369)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCGCACCGCGCCGCAGCCAAC	0.711000																								0							SO:0001583	missense			ENST00000293897.4	0	1	hg19	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746364	0.30955	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71461	-0.57;-0.57	4.76	2.77	0.32553	.	1.361990	0.04495	U	0.380244	T	0.60314	0.2259	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40905	-0.9538	10	0.23891	T	0.37	.	9.249	0.37543	0.0:0.5594:0.3532:0.0874	.	353	P35346	SSR5_HUMAN	V	353	ENSP00000380680:A353V;ENSP00000293897:A353V	ENSP00000293897:A353V	A	+	2	0	SSTR5	1069927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.008000	0.13197	0.420000	0.25954	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	0	9	99	0	17	0	0	0	1	0	17	2		0	0	0	0	0	2	1	9.944058e-01	9	97	0	17	2								-18.385020	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.530000	1.000000	1.000000	0.917485	0.990000	1	7.600000e-01	1
RHBDF1	64285	broad.mit.edu	37	16	113124	113124	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:113124T>C	ENST00000262316.6	-	5	661	c.519A>G	c.(517-519)gaA>gaG	p.E173E	RHBDF1_ENST00000454039.2_Silent_p.E173E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)			18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)			CACTCAGGCCTTCCGCAGTGT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000262316.6	0	1	hg19	CCDS32344.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	1	0	1	13	71	0	10	1	9.997495e-01	31	56	0	10	2		0	0	0	0	0	2	1	9.996538e-01	13	70	0	10	2								-19.998990	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.998441	0.990000	1	9.900000e-01	1
TNP2	7142	broad.mit.edu	37	16	11362939	11362939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11362939C>A	ENST00000312693.3	-	1	250	c.181G>T	c.(181-183)Gga>Tga	p.G61*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	p.0?(1)		6					CTGTGGGCTCCAGTTGGGTTG	0.617000																								1	Whole gene deletion(1)						SO:0001587	stop_gained			ENST00000312693.3	0	1	hg19	CCDS45410.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698888	0.30142	.	.	ENSG00000178279	ENST00000312693	.	.	.	0.91	-1.43	0.08884	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	3.9045	0.09176	0.0:0.4369:0.0:0.5631	.	.	.	.	X	61	.	ENSP00000325738:G61X	G	-	1	0	TNP2	11270440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.023000	0.01438	-0.602000	0.05775	-0.266000	0.10368	GGA		TCGA-IB-7651-01A-11D-2154-08	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	1	0	1	195	916	0	191		0	0	0	0	191	2		0	0	0	0	0	2	1	1	193	894	0	190	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNDC11	51061	broad.mit.edu	37	16	11785193	11785193	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785193G>T	ENST00000356957.3	-	9	2041	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	p.S618C(1)		21					GATGTAATGAGATTCTTCTTT	0.423000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000356957.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.31	3.803146	0.70682	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.25749	1.78;1.78	5.81	5.81	0.92471	.	0.325259	0.31495	N	0.007559	T	0.38054	0.1026	L	0.50333	1.59	0.37626	D	0.921503	D;D	0.67145	0.978;0.996	P;P	0.60682	0.805;0.878	T	0.35674	-0.9779	10	0.59425	D	0.04	-1.5691	8.5305	0.33331	0.1623:0.0:0.8377:0.0	.	645;618	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	Y	645;618	ENSP00000349439:S645Y;ENSP00000283033:S618Y	ENSP00000283033:S618Y	S	-	2	0	TXNDC11	11692694	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	4.222000	0.58580	2.746000	0.94184	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	0	0	0	15	444	0	87	1	9.991750e-01	10	341	0	87	2		0	0	0	0	0	2	1	9.998557e-01	15	435	0	87	2								-3.527516	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.420000	0.230000	1.000000	0.390000	0.515022	0.420000	0	3.100000e-01	1
TXNDC11	51061	broad.mit.edu	37	16	11785247	11785247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785247G>A	ENST00000356957.3	-	9	1987	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L	TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11			21					AGTGGAGCTCGGAGCACCCAG	0.438000																								0							SO:0001583	missense			ENST00000356957.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.56	3.420081	0.62622	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.14266	2.74;2.52	5.81	5.81	0.92471	.	0.245095	0.42821	D	0.000651	T	0.12475	0.0303	L	0.34521	1.04	0.58432	D	0.999992	P;P	0.43519	0.491;0.809	B;B	0.35655	0.098;0.207	T	0.03221	-1.1059	10	0.38643	T	0.18	-22.9249	19.0707	0.93134	0.0:0.0:1.0:0.0	.	627;600	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	L	627;600	ENSP00000349439:P627L;ENSP00000283033:P600L	ENSP00000283033:P600L	P	-	2	0	TXNDC11	11692748	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	6.778000	0.75043	2.746000	0.94184	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	1	0	1	95	437	0	122	1	1	63	288	0	122	2		0	0	0	0	0	2	1	1	94	432	0	120	2								-2.742806	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNDC11	51061	broad.mit.edu	37	16	11792005	11792005	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11792005G>A	ENST00000356957.3	-	8	1271	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	TXNDC11_ENST00000283033.5_Silent_p.A361A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11			21					GATGACTTTCGGCCAGGGGAT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000356957.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	1	0	1	132	455	0	99	1	1	70	145	0	99	2		0	0	0	0	0	2	1	1	132	449	0	99	2								-4.416671	1	1	121412	7	42	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H7A	29066	broad.mit.edu	37	16	11873039	11873039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11873039C>T	ENST00000396516.2	-	3	486	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	ZC3H7A_ENST00000575170.1_5'UTR|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A97T			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A			25					GAATAGCAGGCAATACGATTT	0.274000																								0							SO:0001583	missense			ENST00000396516.2	1	0	hg19	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162631	0.94727	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.61274	0.12;0.12	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84670	0.0711	10	0.72032	D	0.01	.	18.8171	0.92081	0.0:1.0:0.0:0.0	.	97	Q8IWR0	Z3H7A_HUMAN	T	97	ENSP00000347999:A97T;ENSP00000379773:A97T	ENSP00000347999:A97T	A	-	1	0	ZC3H7A	11780540	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.692000	0.91855	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	1	0	0	45	447	0	55	1	9.921990e-01	9	67	0	55	2		0	0	0	0	0	2	1	1	43	441	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.820000	1.000000	1.000000	0.982733	0.990000	1	9.600000e-01	1
RSL1D1	26156	broad.mit.edu	37	16	11941533	11941533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11941533C>T	ENST00000571133.1	-	3	448	c.376G>A	c.(376-378)Gtt>Att	p.V126I	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1			15					ACCTGAGAAACGGTTTTAATT	0.318000																								0							SO:0001583	missense			ENST00000571133.1	1	1	hg19	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.226134	0.00283	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.37915	1.17	5.0	1.47	0.22746	Ribosomal protein L1, superfamily (1);	0.298473	0.36374	N	0.002639	T	0.09247	0.0228	N	0.01076	-1.035	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.011	T	0.35822	-0.9773	10	0.02654	T	1	-7.1063	7.6356	0.28264	0.0:0.359:0.0:0.641	.	126;126	Q32Q62;O76021	.;RL1D1_HUMAN	I	126	ENSP00000347897:V126I	ENSP00000347897:V126I	V	-	1	0	RSL1D1	11849034	0.010000	0.17322	0.157000	0.22605	0.144000	0.21451	-0.013000	0.12678	0.046000	0.15833	-1.327000	0.01280	GTT		TCGA-IB-7651-01A-11D-2154-08	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	1	0	1	58	292	0	68	1	1	144	332	0	68	2		0	0	0	0	0	2	1	1	57	286	0	68	2								-3.344172	1	1	121406	1	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSPT1	2935	broad.mit.edu	37	16	11967016	11967016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11967016G>A	ENST00000563468.1	-	13	1486	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Missense_Mutation_p.A625V|GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V			P15170	ERF3A_HUMAN	G1 to S phase transition 1			14					TTTTCCAATTGCAATGGTCTT	0.308000																								0							SO:0001583	missense			ENST00000563468.1	1	1	hg19	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450010	0.84101	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.59906	0.54;0.55;0.23	5.54	5.54	0.83059	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.83487	0.5265	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.68039	0.955;0.955;0.935	D	0.88726	0.3233	10	0.87932	D	0	-19.6359	18.0661	0.89391	0.0:0.0:1.0:0.0	.	624;621;487	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	V	625;624;487	ENSP00000398131:A625V;ENSP00000408399:A624V;ENSP00000399539:A487V	ENSP00000399539:A487V	A	-	2	0	GSPT1	11874517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.400000	0.97290	2.605000	0.88082	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	1	0	1	85	484	0	94	1	1	98	290	0	94	2		0	0	0	0	0	2	1	1	83	479	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSPT1	2935	broad.mit.edu	37	16	11990584	11990584	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11990584T>G	ENST00000563468.1	-	2	107	c.81A>C	c.(79-81)atA>atC	p.I27I	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Silent_p.I165I|GSPT1_ENST00000420576.2_Silent_p.I27I|GSPT1_ENST00000439887.2_Silent_p.I164I			P15170	ERF3A_HUMAN	G1 to S phase transition 1			14					CTGCTTCACTTATTTCTTCTT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000563468.1	1	1	hg19	CCDS45414.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	1	0	0	15	42	0	12	1	1	88	215	0	12	2		0	0	0	0	0	2	1	9.999455e-01	15	42	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
SNX29	92017	broad.mit.edu	37	16	12450028	12450028	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:12450028G>T	ENST00000566228.1	+	16	1860	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	SNX29_ENST00000306030.3_Missense_Mutation_p.E212D|SNX29_ENST00000323433.4_Missense_Mutation_p.E212D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29			7					AGGTGGCAGAGATGCATGGCG	0.587000																								0							SO:0001583	missense			ENST00000566228.1	1	1	hg19	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275544	0.59649	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.36	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.38175	1.15	0.26902	N	0.967094	.	.	.	.	.	.	T	0.11717	-1.0576	7	0.30854	T	0.27	-28.2457	4.8659	0.13607	0.2513:0.0:0.7487:0.0	.	.	.	.	D	212	.	ENSP00000306940:E212D	E	+	3	2	SNX29	12357529	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.968000	0.63728	2.496000	0.84212	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1	1	0	1	22	80	0	23	0	9.872809e-01	1	28	0	23	2		0	0	0	0	0	2	1	9.999995e-01	22	79	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CACNA1H	8912	broad.mit.edu	37	16	1254314	1254314	+	Silent	SNP	G	G	A	rs61072201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1254314G>A	ENST00000348261.5	+	10	2555	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P	CACNA1H_ENST00000565831.1_Silent_p.P769P|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Silent_p.P769P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit			34		Hepatocellular(780;0.00369)		Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGGCAGCCCCGGGCGAGCCAG	0.706000																								0							SO:0001819	synonymous_variant			ENST00000348261.5	1	0	hg19	CCDS45375.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	1	0	0	20	94	0	17	0	5.556960e-01	0	10	0	17	2		0	0	0	0	0	2	1	9.999976e-01	20	94	0	16	2								-20.000000	1	0	119550	8	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
TPSD1	23430	broad.mit.edu	37	16	1306840	1306840	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1306840G>A	ENST00000211076.3	+	3	445	c.297G>A	c.(295-297)gaG>gaA	p.E99E	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.E92E	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1			20		Hepatocellular(780;0.00369)			AACTGCGGGAGCAGCACCTCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000211076.3	1	1	hg19	CCDS10432.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2	1	0	0	42	163	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	40	153	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAIAP3	8938	broad.mit.edu	37	16	1394480	1394480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1394480G>A	ENST00000324385.5	+	18	1876	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R502H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3			42		Hepatocellular(780;0.0893)			AGAGGCAACCGTGAGTGGTAC	0.612000																								0							SO:0001583	missense			ENST00000324385.5	1	1	hg19	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870421	0.33069	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71817	-0.59;-0.59;-0.6;-0.59;-0.6	4.17	0.721	0.18219	.	0.510616	0.20686	N	0.087546	T	0.55433	0.1920	L	0.47716	1.5	0.20873	N	0.999833	P;P;P;P	0.49696	0.916;0.834;0.927;0.834	B;B;B;B	0.40782	0.247;0.255;0.255;0.34	T	0.50866	-0.8777	10	0.45353	T	0.12	-8.1547	4.0236	0.09677	0.1184:0.0:0.4607:0.4209	.	502;515;573;555	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	538;555;573;555;502	ENSP00000407242:R538H;ENSP00000380625:R555H;ENSP00000324510:R573H;ENSP00000380626:R555H;ENSP00000409533:R502H	ENSP00000324510:R573H	R	+	2	0	BAIAP3	1334481	0.481000	0.25941	0.818000	0.32626	0.847000	0.48162	1.203000	0.32284	0.826000	0.34661	0.491000	0.48974	CGT		TCGA-IB-7651-01A-11D-2154-08	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	0	0	1	129	428	0	98	1	9.995437e-01	10	30	0	98	2		0	0	0	0	0	2	1	1	128	421	0	97	2								-20.000000	1	1	121410	2	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAIAP3	8938	broad.mit.edu	37	16	1396176	1396176	+	Silent	SNP	C	C	T	rs115798223	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1396176C>T	ENST00000324385.5	+	25	2570	c.2412C>T	c.(2410-2412)tgC>tgT	p.C804C	BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000397488.2_Silent_p.C786C|BAIAP3_ENST00000421665.2_Silent_p.C733C|BAIAP3_ENST00000426824.3_Silent_p.C769C|BAIAP3_ENST00000568887.1_Silent_p.C741C|BAIAP3_ENST00000397489.1_Silent_p.C786C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3			42		Hepatocellular(780;0.0893)			TCCAGCTCTGCGTGGTCCTCA	0.711000																								0							SO:0001819	synonymous_variant			ENST00000324385.5	1	1	hg19	CCDS10434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	1	0	1	23	169	0	23	1	6.869237e-01	3	16	0	23	2		0	0	0	0	0	2	1	9.999995e-01	23	167	0	22	2								-3.318336	1	1	120860	50	44	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.960000	1.000000	1.000000	0.997238	0.990000	1	9.900000e-01	1
BAIAP3	8938	broad.mit.edu	37	16	1397298	1397298	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397298G>T	ENST00000324385.5	+	29	3014		c.e29-1		BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site|BAIAP3_ENST00000397489.1_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3			42		Hepatocellular(780;0.0893)			CCCTGCCCCAGGCCCTGGTCA	0.647000																								0							SO:0001630	splice_region_variant			ENST00000324385.5	1	1	hg19	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037427	0.35989	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9418	0.79758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAIAP3	1337299	1.000000	0.71417	0.994000	0.49952	0.259000	0.26198	2.661000	0.46758	2.367000	0.80283	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	1	0	0	9	140	0	27	0	4.792611e-03	1	1	0	27	2		0	0	0	0	0	2	1	9.946738e-01	9	140	0	27	2								-13.133340	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.800000	0.380000	1.000000	1.000000	0.790833	0.800000	0	5.600000e-01	1
BAIAP3	8938	broad.mit.edu	37	16	1397955	1397955	+	Missense_Mutation	SNP	G	G	A	rs148005520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397955G>A	ENST00000324385.5	+	32	3349	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3			42		Hepatocellular(780;0.0893)			CCACTGGTCCGCAGCCAGAGG	0.627000																								0							SO:0001583	missense			ENST00000324385.5	1	1	hg19	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212959	0.39102	0.0	2.33E-4	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.75	2.77	0.32553	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.157023	0.42548	N	0.000693	T	0.42291	0.1196	N	0.10685	0.025	0.38294	D	0.942807	B;B;B;B	0.18310	0.027;0.027;0.027;0.027	B;B;B;B	0.14578	0.003;0.006;0.011;0.006	T	0.28839	-1.0031	10	0.56958	D	0.05	-24.6693	7.0705	0.25175	0.2877:0.0:0.7123:0.0	.	993;1006;1064;1046	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1029;1046;1064;1046;993	ENSP00000407242:R1029H;ENSP00000380625:R1046H;ENSP00000324510:R1064H;ENSP00000380626:R1046H;ENSP00000409533:R993H	ENSP00000324510:R1064H	R	+	2	0	BAIAP3	1337956	0.989000	0.36119	1.000000	0.80357	0.913000	0.54294	0.847000	0.27696	0.421000	0.25980	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	1	0	1	126	599	0	101	1	9.260315e-01	4	19	0	101	2		0	0	0	0	0	2	1	1	124	589	0	99	2								-20.000000	1	1	121330	12	45	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAIAP3	8938	broad.mit.edu	37	16	1398126	1398126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1398126G>A	ENST00000324385.5	+	33	3442	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1024H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3			42		Hepatocellular(780;0.0893)			TGCCGCCGCCGCGCGGCCTGT	0.701000																								0							SO:0001583	missense			ENST00000324385.5	1	1	hg19	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942314	0.53079	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72394	-0.64;-0.64;-0.65;-0.64;-0.62	4.65	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.070764	0.53938	D	0.000056	T	0.76033	0.3931	L	0.46885	1.475	0.41808	D	0.989951	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	P;D;D;D	0.68483	0.891;0.958;0.958;0.958	T	0.77281	-0.2646	10	0.59425	D	0.04	-11.4728	8.7969	0.34885	0.1047:0.0:0.8953:0.0	.	1024;1037;1095;1077	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	H	1060;1077;1095;1077;1024	ENSP00000407242:R1060H;ENSP00000380625:R1077H;ENSP00000324510:R1095H;ENSP00000380626:R1077H;ENSP00000409533:R1024H	ENSP00000324510:R1095H	R	+	2	0	BAIAP3	1338127	0.966000	0.33281	0.804000	0.32291	0.073000	0.16967	3.136000	0.50554	2.117000	0.64856	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3	1	0	0	13	256	0	38	1	2.579342e-01	3	16	0	38	2		0	0	0	0	0	2	1	9.995473e-01	13	254	0	37	2								-15.240840	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.630000	0.340000	1.000000	0.570000	0.677108	0.630000	0	4.600000e-01	1
ERCC4	2072	broad.mit.edu	37	16	14022092	14022092	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14022092G>T	ENST00000311895.7	+	4	801	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000574781.1_3'UTR|ERCC4_ENST00000575156.1_Splice_Site_p.K264N	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4			38					CTTTTGACAAGGTACTCTTTT	0.284000			Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0							SO:0001630	splice_region_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000311895.7	1	0	hg19	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616793	0.66672	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.66280	-0.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.83312	2.635	0.80722	D	1	P;D	0.56035	0.687;0.974	B;P	0.55615	0.259;0.78	T	0.76751	-0.2844	10	0.41790	T	0.15	-34.8801	19.8676	0.96824	0.0:0.0:1.0:0.0	.	264;264	A5PKV6;Q92889	.;XPF_HUMAN	N	264;253;253	ENSP00000310520:K264N	ENSP00000310520:K264N	K	+	3	2	ERCC4	13929593	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.247000	0.78257	2.941000	0.99782	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	1	0	0	37	189	0	67	0	8.585204e-01	1	19	0	67	2		0	0	0	0	0	2	1	1	37	189	0	67	2								-2.787002	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ERCC4	2072	broad.mit.edu	37	16	14029331	14029331	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029331T>G	ENST00000311895.7	+	8	1551	c.1542T>G	c.(1540-1542)taT>taG	p.Y514*	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4			38					AGGAAGGATATCGTCGAGAAA	0.413000			Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0							SO:0001587	stop_gained	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000311895.7	0	1	hg19	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254748	0.39896	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	.	.	.	5.51	-5.5	0.02576	.	3.664390	0.00397	N	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	8.8712	9.2505	0.37551	0.0:0.4804:0.2273:0.2922	.	.	.	.	X	514;503	.	ENSP00000310520:Y514X	Y	+	3	2	ERCC4	13936832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.546000	0.02188	-1.237000	0.02539	-0.250000	0.11733	TAT		TCGA-IB-7651-01A-11D-2154-08	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	0	0	0	10	385	0	95	0	3.223234e-01	0	42	0	95	2		0	0	0	0	0	2	1	9.967645e-01	10	380	0	95	2								-10.177100	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.340000	0.160000	1.000000	0.300000	0.445873	0.340000	0	2.300000e-01	1
ERCC4	2072	broad.mit.edu	37	16	14029521	14029521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029521G>A	ENST00000311895.7	+	8	1741	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4			38					GCCAAGATACGTGGTTCTTTA	0.493000			Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0							SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000311895.7	1	1	hg19	CCDS32390.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.4	4.831633	0.91036	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.63744	-0.06	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81508	0.4837	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83833	0.0253	10	0.72032	D	0.01	-23.4834	18.3806	0.90449	0.0:0.0:1.0:0.0	.	578	Q92889	XPF_HUMAN	M	578;567	ENSP00000310520:V578M	ENSP00000310520:V578M	V	+	1	0	ERCC4	13937022	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.420000	0.97426	2.644000	0.89710	0.591000	0.81541	GTG		TCGA-IB-7651-01A-11D-2154-08	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	1	0	1	96	358	0	71	1	9.427757e-01	2	18	0	71	2		0	0	0	0	0	2	1	1	94	357	0	71	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERCC4	2072	broad.mit.edu	37	16	14041754	14041754	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14041754C>T	ENST00000311895.7	+	11	2310	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4			38					GCAAGCCTTTCTCTCTCACTT	0.498000			Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	excision repair cross-complementing rodent repair deficiency, complementation group 4		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000311895.7	1	1	hg19	CCDS32390.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	1	0	1	112	473	0	94	1	8.629493e-01	2	15	0	94	2		0	0	0	0	0	2	1	1	109	459	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKL2	57496	broad.mit.edu	37	16	14234480	14234480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14234480C>T	ENST00000574045.1	+	3	172	c.17C>T	c.(16-18)gCg>gTg	p.A6V	MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000571589.1_Missense_Mutation_p.A6V|MKL2_ENST00000318282.5_Missense_Mutation_p.A6V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2			42					CACACAGGGGCGATAGACACC	0.502000																								0							SO:0001583	missense			ENST00000574045.1	1	1	hg19	CCDS32391.1	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158251	0.21454	.	.	ENSG00000186260	ENST00000318282	.	.	.	4.93	2.59	0.31030	.	.	.	.	.	T	0.26774	0.0655	N	0.19112	0.55	0.18873	N	0.999986	B;B	0.25719	0.081;0.132	B;B	0.21546	0.016;0.035	T	0.14868	-1.0457	8	0.23302	T	0.38	.	11.1804	0.48625	0.0:0.8158:0.0:0.1842	.	6;6	B4DGT8;Q9ULH7-4	.;.	V	6	.	ENSP00000339086:A6V	A	+	2	0	MKL2	14141981	0.028000	0.19301	0.537000	0.28052	0.191000	0.23601	0.397000	0.20883	1.083000	0.41159	-0.140000	0.14226	GCG		TCGA-IB-7651-01A-11D-2154-08	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	1	0	0	16	269	0	70	0	3.725602e-01	1	21	0	70	2		0	0	0	0	0	2	1	9.999266e-01	16	262	0	69	2								-3.317413	1	1	121412	6	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.720000	0.410000	1.000000	1.000000	0.749229	0.720000	0	5.500000e-01	1
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	C	T	rs148779363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14340860C>T	ENST00000341243.5	+	10	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	MKL2_ENST00000571589.1_Silent_p.I581I|MKL2_ENST00000574045.1_Silent_p.I581I|MKL2_ENST00000318282.5_Silent_p.I581I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	p.I581I(3)		42					AGAAGCAAATCGAAGAGCTGA	0.507000																								3	Substitution - coding silent(3)						SO:0001819	synonymous_variant			ENST00000341243.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MKL2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	39	220	0	50	1	9.640777e-01	2	31	0	50	2		0	0	0	0	0	2	1	1	39	212	0	50	2								-3.329098	1	1	121412	13	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
MKL2	57496	broad.mit.edu	37	16	14341058	14341058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14341058C>A	ENST00000341243.5	+	10	1908	c.1908C>A	c.(1906-1908)tgC>tgA	p.C636*	MKL2_ENST00000571589.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2			42					TCCCTGACTGCTCCAGCTCCA	0.587000																								0							SO:0001587	stop_gained			ENST00000341243.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	40	7.948015	0.98577	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.43	4.25	0.50352	.	0.202123	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3376	8.5521	0.33458	0.0:0.7987:0.0:0.2013	.	.	.	.	X	647;636	.	ENSP00000339086:C647X	C	+	3	2	MKL2	14248559	0.961000	0.32948	1.000000	0.80357	0.816000	0.46133	0.562000	0.23531	2.700000	0.92200	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	MKL2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	56	294	0	61	0	9.653065e-01	0	31	0	61	2		0	0	0	0	0	2	1	1	56	290	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BFAR	51283	broad.mit.edu	37	16	14738367	14738367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14738367G>A	ENST00000261658.2	+	2	441	c.164G>A	c.(163-165)cGt>cAt	p.R55H	RNU7-125P_ENST00000458760.1_RNA|BFAR_ENST00000563971.1_Missense_Mutation_p.R55H|BFAR_ENST00000426842.2_5'UTR	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator			11					AGCTTCTGCCGTCACTGCCTT	0.488000																								0							SO:0001583	missense			ENST00000261658.2	1	1	hg19	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520793	0.96416	.	.	ENSG00000103429	ENST00000261658	T	0.08193	3.12	6.02	6.02	0.97574	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.00536	-1.1683	10	0.87932	D	0	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	55;55;55	B2R9R6;Q9NZS9;B4DLM6	.;BFAR_HUMAN;.	H	55	ENSP00000261658:R55H	ENSP00000261658:R55H	R	+	2	0	BFAR	14645868	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.593000	0.98250	2.855000	0.98099	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	1	0	1	155	599	0	150	1	1	104	200	0	150	2		0	0	0	0	0	2	1	1	153	584	0	150	2								-20.000000	1	1	121412	13	46	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOMO1	23420	broad.mit.edu	37	16	14970277	14970277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14970277G>T	ENST00000287667.7	+	21	2589	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1			30					TAGAAGGCCAGATCCACCCCG	0.507000																								0							SO:0001583	missense			ENST00000287667.7	1	1	hg19	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.621047	0.46736	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04234	3.67	3.57	3.57	0.40892	.	0.059244	0.64402	D	0.000002	T	0.06462	0.0166	L	0.54323	1.7	0.50467	D	0.999874	P	0.41748	0.761	B	0.38500	0.275	T	0.41305	-0.9516	10	0.35671	T	0.21	-19.8079	12.7421	0.57259	0.0:0.0:1.0:0.0	.	806	Q15155	NOMO1_HUMAN	H	806;806;639	ENSP00000287667:Q806H	ENSP00000287667:Q806H	Q	+	3	2	NOMO1	14877778	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.034000	0.41145	1.821000	0.53095	0.398000	0.26397	CAG		TCGA-IB-7651-01A-11D-2154-08	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1	1	0	0	103	448	0	126	1	1	34	120	0	126	2		0	0	0	0	0	2	1	1	79	354	0	168	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOMO1	23420	broad.mit.edu	37	16	14989432	14989432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14989432C>T	ENST00000287667.7	+	31	3770	c.3599C>T	c.(3598-3600)gCa>gTa	p.A1200V		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1			30					CTCGGCCAGGCAGCCTCTGAC	0.542000																								0							SO:0001583	missense			ENST00000287667.7	1	1	hg19	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303128	0.40795	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.54479	0.57	2.99	2.99	0.34606	.	0.210335	0.41605	D	0.000860	T	0.45316	0.1336	L	0.50333	1.59	0.46376	D	0.999016	B	0.02656	0.0	B	0.04013	0.001	T	0.48790	-0.9004	10	0.48119	T	0.1	-1.1936	11.8153	0.52207	0.0:1.0:0.0:0.0	.	1200	Q15155	NOMO1_HUMAN	V	1200;1200;1033	ENSP00000287667:A1200V	ENSP00000287667:A1200V	A	+	2	0	NOMO1	14896933	0.998000	0.40836	0.998000	0.56505	0.569000	0.35902	3.900000	0.56295	1.681000	0.50988	0.384000	0.25694	GCA		TCGA-IB-7651-01A-11D-2154-08	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1	0	0	0	273	2955	0	649	0	1	0	329	0	649	2		0	0	0	0	0	2	1	1	260	2714	0	689	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.900000	1.000000	1.000000	0.986745	0.990000	1	9.600000e-01	1
CLCN7	1186	broad.mit.edu	37	16	1502883	1502883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1502883C>T	ENST00000382745.4	-	15	1831	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	CLCN7_ENST00000262318.8_Missense_Mutation_p.R385Q|CLCN7_ENST00000448525.1_Missense_Mutation_p.R385Q|LA16c-390E6.4_ENST00000563610.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7			24		Hepatocellular(780;0.0893)			CAGGCAGGGCCGGTGGATGTA	0.662000																								0							SO:0001583	missense			ENST00000382745.4	0	1	hg19	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919562	0.52653	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94232	-3.38;-3.38	5.15	5.15	0.70609	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	L	0.39633	1.23	0.80722	D	1	B;P	0.50710	0.09;0.938	B;B	0.36092	0.069;0.217	D	0.87485	0.2423	10	0.22109	T	0.4	-33.6187	17.1754	0.86840	0.0:1.0:0.0:0.0	.	385;409	E9PDB9;P51798	.;CLCN7_HUMAN	Q	385;362;409;351	ENSP00000410907:R385Q;ENSP00000372193:R409Q	ENSP00000262318:R362Q	R	-	2	0	CLCN7	1442884	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.125000	0.77193	2.404000	0.81709	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	1	0	0	12	40	0	9	1	9.999998e-01	37	98	0	9	2		0	0	0	0	0	2	1	9.993537e-01	12	38	0	9	2								-19.999960	1	1	118234	4	38	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999830	0.990000	1	9.900000e-01	1
NPRL3	8131	broad.mit.edu	37	16	150396	150396	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:150396G>A	ENST00000399953.3	-	7	1143	c.741C>T	c.(739-741)gcC>gcT	p.A247A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.A68A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)			6					TCCGTTCGATGGCCTCTGGGG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000399953.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	20	64	0	13	1	9.999998e-01	34	67	0	13	2		0	0	0	0	0	2	1	9.999980e-01	20	63	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CLCN7	1186	broad.mit.edu	37	16	1507738	1507738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1507738G>A	ENST00000382745.4	-	8	1300	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F|CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7			24		Hepatocellular(780;0.0893)			GATCACACCGGACACTTTGAT	0.607000																								0							SO:0001583	missense			ENST00000382745.4	1	1	hg19	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335237	0.24253	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93811	-3.29;-3.29	5.39	4.41	0.53225	Chloride channel, core (2);	0.290406	0.40064	N	0.001198	T	0.72020	0.3409	N	0.00226	-1.805	0.38954	D	0.958401	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71234	-0.4653	10	0.24483	T	0.36	-21.299	6.9991	0.24799	0.1016:0.2644:0.634:0.0	.	208;232	E9PDB9;P51798	.;CLCN7_HUMAN	F	208;185;232;174	ENSP00000410907:S208F;ENSP00000372193:S232F	ENSP00000262318:S185F	S	-	2	0	CLCN7	1447739	0.882000	0.30256	0.966000	0.40874	0.836000	0.47400	1.519000	0.35888	2.521000	0.84997	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	1	0	1	74	339	0	75	1	1	47	141	0	75	2		0	0	0	0	0	2	1	1	74	336	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLCN7	1186	broad.mit.edu	37	16	1509188	1509188	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1509188G>A	ENST00000382745.4	-	7	1200	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CLCN7_ENST00000262318.8_Splice_Site_p.P175S|CLCN7_ENST00000448525.1_Splice_Site_p.P175S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7			24		Hepatocellular(780;0.0893)			GCAGCCACCGGCTGAAAGAGG	0.657000																								0							SO:0001630	splice_region_variant			ENST00000382745.4	1	0	hg19	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224290	0.79576	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.82984	-1.67;-1.67	4.67	4.67	0.58626	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.976	D	0.93486	0.6831	10	0.87932	D	0	-20.5361	11.72	0.51677	0.0:0.0:0.8233:0.1767	.	175;199	E9PDB9;P51798	.;CLCN7_HUMAN	S	175;152;199;141	ENSP00000410907:P175S;ENSP00000372193:P199S	ENSP00000262318:P152S	P	-	1	0	CLCN7	1449189	1.000000	0.71417	0.689000	0.30133	0.060000	0.15804	6.343000	0.72986	2.314000	0.78098	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	1	0	1	32	139	0	31	1	1	27	108	0	31	2		0	0	0	0	0	2	1	1	31	137	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PDXDC1	23042	broad.mit.edu	37	16	15098085	15098085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15098085G>A	ENST00000396410.4	+	5	381	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E|PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E|PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E|PDXDC1_ENST00000447912.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1			38					GCTTTGTTGGGACATAGTCTG	0.353000																								0							SO:0001583	missense			ENST00000396410.4	1	1	hg19	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944065	0.92593	.	.	ENSG00000179889	ENST00000325823;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.72	5.72	0.89469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.984	D;D;D;D;D;P	0.97110	0.998;1.0;0.995;0.998;0.998;0.885	T	0.43766	-0.9371	10	0.72032	D	0.01	-24.923	19.2382	0.93871	0.0:0.0:1.0:0.0	.	67;80;95;67;95;95	E7EPL4;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	E	80;95;95;67;95	ENSP00000322807:G80E;ENSP00000437835:G95E;ENSP00000379691:G95E;ENSP00000391147:G67E;ENSP00000406703:G95E	ENSP00000322807:G80E	G	+	2	0	PDXDC1	15005586	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.229000	0.95273	2.850000	0.98022	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	0	0	0	36	971	0	197	1	9.998234e-01	22	321	0	197	2		0	0	0	0	0	2	1	1	37	957	0	195	2								-3.500225	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.440000	0.300000	1.000000	0.430000	0.536168	0.440000	0	3.700000e-01	1
PDXDC1	23042	broad.mit.edu	37	16	15116568	15116568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15116568G>A	ENST00000396410.4	+	13	1194	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1			38					CAGAGTCAACGGTTGCAGGAA	0.373000																								0							SO:0001583	missense			ENST00000396410.4	1	1	hg19	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411756	0.25465	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	4.96	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175291	0.49916	D	0.000131	T	0.29061	0.0722	L	0.32530	0.975	0.31088	N	0.711142	B;B;B;B;B;B	0.20052	0.004;0.004;0.014;0.004;0.004;0.041	B;B;B;B;B;B	0.11329	0.002;0.003;0.003;0.003;0.002;0.006	T	0.21621	-1.0240	10	0.26408	T	0.33	-20.2729	9.0978	0.36649	0.167:0.0:0.833:0.0	.	338;275;366;338;366;343	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	Q	351;275;366;366;338;72;343	ENSP00000322807:R351Q;ENSP00000400310:R275Q;ENSP00000437835:R366Q;ENSP00000379691:R366Q;ENSP00000391147:R338Q;ENSP00000406703:R343Q	ENSP00000322807:R351Q	R	+	2	0	PDXDC1	15024069	0.987000	0.35691	0.119000	0.21687	0.970000	0.65996	3.786000	0.55431	1.094000	0.41399	-0.350000	0.07774	CGG		TCGA-IB-7651-01A-11D-2154-08	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	1	0	1	23	274	0	56	1	1	111	370	0	56	2		0	0	0	0	0	2	1	9.999993e-01	23	268	0	56	2								-2.619824	1	1	121412	1	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.980000	0.620000	1.000000	1.000000	0.915047	0.980000	1	7.800000e-01	1
PTX4	390667	broad.mit.edu	37	16	1537406	1537406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537406G>A	ENST00000447419.2	-	2	732	c.707C>T	c.(706-708)cCt>cTt	p.P236L	PTX4_ENST00000293922.1_Missense_Mutation_p.P231L|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long			17					TGAGGCTGGAGGCTCCCGCCT	0.662000																								0							SO:0001583	missense			ENST00000447419.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.09	2.431251	0.43122	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05199	3.62;3.48	5.15	-0.739	0.11120	.	3.081050	0.00877	N	0.002089	T	0.11495	0.0280	L	0.48642	1.525	0.09310	N	1	D	0.58970	0.984	P	0.55161	0.77	T	0.19224	-1.0312	10	0.25751	T	0.34	.	2.4394	0.04490	0.1607:0.2717:0.4279:0.1397	.	231	Q96A99-2	.	L	236;231	ENSP00000445277:P236L;ENSP00000293922:P231L	ENSP00000293922:P231L	P	-	2	0	PTX4	1477407	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.037000	0.12164	-0.241000	0.09681	-0.165000	0.13383	CCT		TCGA-IB-7651-01A-11D-2154-08	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	1	0	0	68	292	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	68	280	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTX4	390667	broad.mit.edu	37	16	1537808	1537808	+	Missense_Mutation	SNP	G	G	A	rs61733465	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537808G>A	ENST00000447419.2	-	2	330	c.305C>T	c.(304-306)gCg>gTg	p.A102V	PTX4_ENST00000293922.1_Missense_Mutation_p.A97V|PTX4_ENST00000440447.2_Missense_Mutation_p.A102V			Q96A99	PTX4_HUMAN	pentraxin 4, long			17					CTTGAGCTGCGCCAGCTCCCC	0.677000																								0							SO:0001583	missense			ENST00000447419.2	1	0	hg19		11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	G	5.119	0.207595	0.09704	0.016598	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05649	3.55;3.41	5.77	1.14	0.20703	.	1.841690	0.02491	N	0.089444	T	0.01870	0.0059	N	0.12182	0.205	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37979	-0.9682	10	0.35671	T	0.21	.	2.402	0.04404	0.1102:0.1576:0.4385:0.2937	.	97	Q96A99-2	.	V	102;97	ENSP00000445277:A102V;ENSP00000293922:A97V	ENSP00000293922:A97V	A	-	2	0	PTX4	1477809	0.068000	0.21057	0.075000	0.20258	0.001000	0.01503	0.402000	0.20965	0.103000	0.17682	-1.151000	0.01829	GCG		TCGA-IB-7651-01A-11D-2154-08	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	0	0	1	128	503	0	133	0	0	0	1	0	133	2		0	0	0	0	0	2	1	1	127	497	0	133	2								-2.775691	1	1	121348	209	56	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TELO2	9894	broad.mit.edu	37	16	1551487	1551487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1551487G>A	ENST00000262319.6	+	10	1627	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2			19		Hepatocellular(780;0.219)			GGGTGACGGCGCCTCGGAGGC	0.687000																								0							SO:0001583	missense			ENST00000262319.6	1	1	hg19	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	g	8.776	0.927147	0.18056	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.83992	-1.79	5.27	-5.6	0.02497	.	1.112770	0.06593	N	0.752326	T	0.55909	0.1950	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47394	-0.9121	10	0.13108	T	0.6	-6.8133	0.4389	0.00483	0.2154:0.1788:0.2547:0.351	.	450	Q9Y4R8	TELO2_HUMAN	T	64;450	ENSP00000262319:A450T	ENSP00000262319:A450T	A	+	1	0	TELO2	1491488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.310000	0.08135	-1.029000	0.03317	-0.142000	0.14014	GCC		TCGA-IB-7651-01A-11D-2154-08	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	1	0	1	38	115	0	17	1	9.957137e-01	5	23	0	17	2		0	0	0	0	0	2	1	1	37	114	0	15	2								-4.516604	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TELO2	9894	broad.mit.edu	37	16	1557010	1557010	+	Silent	SNP	G	G	A	rs147404164	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1557010G>A	ENST00000262319.6	+	18	2463	c.2184G>A	c.(2182-2184)gcG>gcA	p.A728A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2			19		Hepatocellular(780;0.219)			GAAGGCTGGCGCACACCTTAG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000262319.6	1	0	hg19	CCDS32363.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	1	0	1	19	85	0	22	1	9.999163e-01	11	65	0	22	2		0	0	0	0	0	2	1	9.999953e-01	19	85	0	22	2								-20.000000	1	1	121216	13	37	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
KIAA0430	9665	broad.mit.edu	37	16	15718648	15718648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15718648C>T	ENST00000396368.3	-	10	2454	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T	KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430			40					GACTGAGATGCGAGCAGAGGA	0.428000																								0							SO:0001583	missense			ENST00000396368.3	1	1	hg19	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	5.147	0.212746	0.09757	0.0	1.2E-4	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	6.08	-7.59	0.01308	.	1.014950	0.07841	N	0.963039	T	0.09905	0.0243	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.44452	-0.9327	9	0.05959	T	0.93	.	12.1485	0.54036	0.1754:0.5963:0.0:0.2282	.	748;747;746;749	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	T	750;607;749;428;747;749;606	.	ENSP00000315718:A749T	A	-	1	0	KIAA0430	15626149	0.001000	0.12720	0.004000	0.12327	0.596000	0.36781	-0.766000	0.04725	-1.422000	0.02004	-1.083000	0.02208	GCA		TCGA-IB-7651-01A-11D-2154-08	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	1	0	0	41	484	0	140	1	9.462084e-01	7	52	0	140	2		0	0	0	0	0	2	1	1	41	476	0	139	2								-3.318793	1	1	120894	8	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.970000	0.690000	1.000000	1.000000	0.928932	0.970000	1	8.200000e-01	1
KIAA0430	9665	broad.mit.edu	37	16	15729733	15729733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15729733C>A	ENST00000396368.3	-	3	817	c.611G>T	c.(610-612)gGt>gTt	p.G204V	KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G204V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430			40					GTGCACATTACCATGACATGA	0.522000																								0							SO:0001583	missense			ENST00000396368.3	1	1	hg19	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714553	0.48622	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	3.94	0.45596	.	0.365309	0.27219	N	0.020377	T	0.51024	0.1650	L	0.51422	1.61	0.09310	N	1	B;P;P;P;P	0.50369	0.05;0.934;0.934;0.934;0.891	B;P;P;P;P	0.55923	0.067;0.688;0.787;0.787;0.49	T	0.44283	-0.9338	9	0.72032	D	0.01	.	11.7683	0.51943	0.0:0.8098:0.124:0.0662	.	203;203;204;203;203	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	V	204;204;203;26;204;204;204	.	ENSP00000315718:G203V	G	-	2	0	KIAA0430	15637234	0.973000	0.33851	0.001000	0.08648	0.957000	0.61999	3.123000	0.50453	0.815000	0.34398	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	1	0	1	97	316	0	75	1	9.999698e-01	12	40	0	75	2		0	0	0	0	0	2	1	1	95	306	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT140	9742	broad.mit.edu	37	16	1573949	1573949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1573949G>A	ENST00000426508.2	-	25	3513	c.3150C>T	c.(3148-3150)ggC>ggT	p.G1050G	IFT140_ENST00000361339.5_Silent_p.G244G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140			53		Hepatocellular(780;0.219)			GGTCGTCCAGGCCGTTCTCCT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000426508.2	1	1	hg19	CCDS10439.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	1	0	1	47	160	0	24	1	9.997446e-01	12	34	0	24	2		0	0	0	0	0	2	1	1	46	159	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDE1	54820	broad.mit.edu	37	16	15781279	15781279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15781279C>T	ENST00000396353.2	+	6	1260	c.434C>T	c.(433-435)gCc>gTc	p.A145V	CTB-193M12.3_ENST00000576454.1_RNA|NDE1_ENST00000342673.5_Missense_Mutation_p.A145V|NDE1_ENST00000396355.1_Missense_Mutation_p.A145V|NDE1_ENST00000396354.1_Missense_Mutation_p.A145V			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1			13					TTGAATCAGGCCATCGAAAGA	0.498000																								0							SO:0001583	missense			ENST00000396353.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.5	4.294382	0.81025	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.86	5.86	0.93980	NUDE protein, C-terminal (1);	0.051998	0.85682	D	0.000000	T	0.60196	0.2250	M	0.69463	2.115	0.80722	D	1	B;D	0.58620	0.299;0.983	B;B	0.42522	0.013;0.39	T	0.62765	-0.6785	9	0.40728	T	0.16	-51.7478	19.1736	0.93590	0.0:1.0:0.0:0.0	.	145;145	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	V	145	.	ENSP00000345892:A145V	A	+	2	0	NDE1	15688780	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.020000	0.70826	2.766000	0.95052	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	61	246	0	58	1	9.999993e-01	14	73	0	58	2		0	0	0	0	0	2	1	1	61	239	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH11	4629	broad.mit.edu	37	16	15814797	15814797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15814797G>A	ENST00000300036.5	-	33	4799	c.4690C>T	c.(4690-4692)Cgg>Tgg	p.R1564W	MYH11_ENST00000576790.2_Missense_Mutation_p.R1564W|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.R1571W|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|NDE1_ENST00000396354.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle			123					ACTTCCAGCCGCAGTTTGGCG	0.602000			T	CBFB	AML										Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0							SO:0001583	missense			ENST00000300036.5	1	1	hg19	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946232	0.73672	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.97	2.73	0.32206	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.94435	0.7653	10	0.87932	D	0	.	12.135	0.53966	0.0:0.0:0.5351:0.4649	.	1571;1564;1571;1564;1571	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	W	1564;1564;1571;1571;1571	ENSP00000300036:R1564W;ENSP00000345136:R1564W;ENSP00000379616:R1571W;ENSP00000407821:R1571W	ENSP00000300036:R1564W	R	-	1	2	MYH11	15722298	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.928000	0.40104	1.056000	0.40484	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1	111	479	0	109	0	1	1	270	0	109	2		0	0	0	0	0	2	1	1	107	474	0	108	2								-3.442073	1	1	121412	1	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH11	4629	broad.mit.edu	37	16	15826526	15826526	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15826526G>T	ENST00000300036.5	-	27	3655	c.3546C>A	c.(3544-3546)gcC>gcA	p.A1182A	MYH11_ENST00000576790.2_Silent_p.A1182A|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Silent_p.A1189A|MYH11_ENST00000396324.3_Silent_p.A1189A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle			123					CTTCATCCAGGGCCTTCTTCA	0.597000			T	CBFB	AML										Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0							SO:0001819	synonymous_variant			ENST00000300036.5	1	1	hg19	CCDS10565.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1	106	406	0	104	1	1	6	222	0	104	2		0	0	0	0	0	2	1	1	103	394	0	103	2								-3.556995	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH11	4629	broad.mit.edu	37	16	15829434	15829434	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15829434G>T	ENST00000300036.5	-	26	3404	c.3295C>A	c.(3295-3297)Ctt>Att	p.L1099I	MYH11_ENST00000576790.2_Splice_Site_p.L1099I|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Splice_Site_p.L1106I|MYH11_ENST00000396324.3_Splice_Site_p.L1106I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle			123					TCATCGTCAAGCCTTCCAGGG	0.542000			T	CBFB	AML										Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0							SO:0001630	splice_region_variant			ENST00000300036.5	1	0	hg19	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550723	0.13374	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.64402	D	0.000002	T	0.78464	0.4287	N	0.20986	0.625	0.53005	D	0.999961	B;B;B;B;B	0.11235	0.002;0.004;0.004;0.002;0.002	B;B;B;B;B	0.18263	0.021;0.02;0.02;0.02;0.012	T	0.72357	-0.4318	10	0.02654	T	1	.	18.4136	0.90561	0.0:0.0:1.0:0.0	.	1106;1099;1106;1099;1106	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	1099;1099;1106;1106;1106	ENSP00000300036:L1099I;ENSP00000345136:L1099I;ENSP00000379616:L1106I;ENSP00000407821:L1106I	ENSP00000300036:L1099I	L	-	1	0	MYH11	15736935	1.000000	0.71417	0.996000	0.52242	0.437000	0.31866	1.568000	0.36418	2.593000	0.87608	0.442000	0.29010	CTT		TCGA-IB-7651-01A-11D-2154-08	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	0	96	375	0	72	1	1	2	206	0	72	2		0	0	0	0	0	2	1	1	96	370	0	72	2								-20.000000	1	1	121412	5	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH11	4629	broad.mit.edu	37	16	15841795	15841795	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15841795T>G	ENST00000300036.5	-	18	2295	c.2186A>C	c.(2185-2187)gAg>gCg	p.E729A	MYH11_ENST00000576790.2_Missense_Mutation_p.E729A|MYH11_ENST00000452625.2_Missense_Mutation_p.E736A|MYH11_ENST00000396324.3_Missense_Mutation_p.E736A	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle			123					CGCCAGGATCTCGTAGCTTGA	0.607000			T	CBFB	AML										Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0							SO:0001583	missense			ENST00000300036.5	1	1	hg19	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634848	0.87760	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	L	0.45698	1.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91576	0.5275	10	0.72032	D	0.01	.	13.5925	0.61967	0.0:0.0:0.0:1.0	.	736;729;736;729;736	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	A	729;729;736;736;736	ENSP00000300036:E729A;ENSP00000345136:E729A;ENSP00000379616:E736A;ENSP00000407821:E736A	ENSP00000300036:E729A	E	-	2	0	MYH11	15749296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.024000	0.88770	1.806000	0.52798	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1	66	330	0	64	0	1	0	186	0	64	2		0	0	0	0	0	2	1	1	66	323	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH11	4629	broad.mit.edu	37	16	15844149	15844149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15844149G>A	ENST00000300036.5	-	16	2013	c.1904C>T	c.(1903-1905)aCg>aTg	p.T635M	MYH11_ENST00000576790.2_Missense_Mutation_p.T635M|MYH11_ENST00000452625.2_Missense_Mutation_p.T642M|MYH11_ENST00000396324.3_Missense_Mutation_p.T642M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	p.T635M(1)		123					CGAGCTCTCCGTCATCTTGGC	0.627000			T	CBFB	AML										Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000300036.5	0	1	hg19	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993385	0.74703	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.123826	0.53938	D	0.000050	D	0.87313	0.6146	L	0.47190	1.495	0.80722	D	1	D;P;P;P;P;P	0.54397	0.966;0.619;0.619;0.619;0.904;0.619	P;P;P;P;P;P	0.49799	0.622;0.5;0.5;0.5;0.5;0.5	D	0.88077	0.2804	10	0.56958	D	0.05	.	15.4747	0.75468	0.0:0.1387:0.8613:0.0	.	642;635;635;642;635;642	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	635;635;642;642;642	ENSP00000300036:T635M;ENSP00000345136:T635M;ENSP00000379616:T642M;ENSP00000407821:T642M	ENSP00000300036:T635M	T	-	2	0	MYH11	15751650	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.660000	0.74417	2.571000	0.86741	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	0	23	110	0	13	0	1	0	156	0	13	2		0	0	0	0	0	2	1	9.999997e-01	23	110	0	13	2								-14.954080	1	1	121404	4	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999968	0.990000	1	9.900000e-01	1
MYH11	4629	broad.mit.edu	37	16	15853516	15853516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15853516C>T	ENST00000300036.5	-	12	1427	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	MYH11_ENST00000576790.2_Missense_Mutation_p.V440M|MYH11_ENST00000452625.2_Missense_Mutation_p.V447M|MYH11_ENST00000396324.3_Missense_Mutation_p.V447M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle			123					GCTTTGTTCACGCGGGTGAGT	0.552000			T	CBFB	AML										Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0							SO:0001583	missense			ENST00000300036.5	1	1	hg19	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520021	0.64634	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.75	5.75	0.90469	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.69078	0.981;0.997;0.997;0.997;0.997;0.981	D;D;D;D;P;P	0.63703	0.917;0.917;0.917;0.917;0.891;0.879	D	0.87710	0.2566	10	0.87932	D	0	.	18.932	0.92570	0.0:1.0:0.0:0.0	.	447;440;440;447;440;447	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	440;440;447;447;447	ENSP00000300036:V440M;ENSP00000345136:V440M;ENSP00000379616:V447M;ENSP00000407821:V447M	ENSP00000300036:V440M	V	-	1	0	MYH11	15761017	0.944000	0.32072	0.966000	0.40874	0.496000	0.33645	2.105000	0.41825	2.706000	0.92434	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1	107	458	0	107	0	1	1	190	0	107	2		0	0	0	0	0	2	1	1	106	447	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC6	368	broad.mit.edu	37	16	16251606	16251606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16251606C>T	ENST00000205557.7	-	27	3825	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6			43				Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCCCGGAACTCGATCTGCCCG	0.627000																								0							SO:0001583	missense			ENST00000205557.7	1	1	hg19	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.056895	0.76074	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90955	-2.76	5.09	4.13	0.48395	ABC transporter-like (1);	0.000000	0.47852	U	0.000214	D	0.86079	0.5847	L	0.45352	1.415	0.80722	D	1	D	0.55385	0.971	B	0.39258	0.295	D	0.86918	0.2065	10	0.87932	D	0	.	14.3582	0.66752	0.1485:0.8515:0.0:0.0	.	1266	O95255	MRP6_HUMAN	K	1266;204	ENSP00000205557:E1266K	ENSP00000205557:E1266K	E	-	1	0	ABCC6	16159107	0.399000	0.25287	0.836000	0.33094	0.891000	0.51852	1.188000	0.32102	1.151000	0.42436	0.530000	0.56133	GAG		TCGA-IB-7651-01A-11D-2154-08	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2	1	0	1	51	172	0	39	0	5.805080e-01	1	7	0	39	2		0	0	0	0	0	2	1	1	51	169	0	38	2								-20.000000	1	1	121412	7	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC6	368	broad.mit.edu	37	16	16276333	16276333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16276333G>A	ENST00000205557.7	-	17	2212	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6			43				Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CAGGGCACAGGCTTCTAGTAC	0.582000																								0							SO:0001583	missense			ENST00000205557.7	1	1	hg19	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136748	0.56936	.	.	ENSG00000091262	ENST00000205557;ENST00000456970	D;D	0.94046	-3.34;-3.34	4.62	4.62	0.57501	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.48767	U	0.000164	D	0.94693	0.8288	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95589	0.8653	10	0.87932	D	0	.	16.2357	0.82371	0.0:0.0:1.0:0.0	.	728	O95255	MRP6_HUMAN	V	728	ENSP00000205557:A728V;ENSP00000405002:A728V	ENSP00000205557:A728V	A	-	2	0	ABCC6	16183834	1.000000	0.71417	0.991000	0.47740	0.049000	0.14656	6.247000	0.72411	2.113000	0.64589	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2	0	0	0	11	355	0	102	0	2.765096e-02	1	7	0	102	2		0	0	0	0	0	2	1	9.982651e-01	11	350	0	102	2								-3.450509	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.400000	0.200000	1.000000	0.360000	0.493640	0.400000	0	2.800000e-01	1
IFT140	9742	broad.mit.edu	37	16	1636214	1636214	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1636214G>T	ENST00000426508.2	-	10	1435	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140			53		Hepatocellular(780;0.219)			GGGCTGCCCAGGAAGTCTGGT	0.567000																								0							SO:0001583	missense			ENST00000426508.2	1	1	hg19	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112710	0.06881	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.58506	0.33	5.13	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);	1.556770	0.03386	N	0.201114	T	0.42426	0.1202	N	0.14661	0.345	0.09310	N	1	P	0.38642	0.641	B	0.29353	0.101	T	0.45556	-0.9253	10	0.33141	T	0.24	.	14.1787	0.65559	0.0:0.2861:0.7139:0.0	.	358	Q96RY7	IF140_HUMAN	M	358	ENSP00000406012:L358M	ENSP00000380562:L358M	L	-	1	2	IFT140	1576215	0.197000	0.23362	0.001000	0.08648	0.003000	0.03518	2.310000	0.43708	0.496000	0.27904	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	1	0	1	98	454	0	93	1	9.998910e-01	23	40	0	93	2		0	0	0	0	0	2	1	1	95	439	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRAMP1L	57585	broad.mit.edu	37	16	1691164	1691164	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1691164A>C	ENST00000397412.3	+	6	902	c.803A>C	c.(802-804)aAg>aCg	p.K268T	LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)			22					AATGCAACAAAGCTGAATGAA	0.363000																								0							SO:0001583	missense			ENST00000397412.3	1	1	hg19	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167663	0.57476	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.46	5.46	0.80206	.	0.058546	0.64402	D	0.000003	T	0.76421	0.3985	M	0.67397	2.05	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.79485	-0.1784	9	0.87932	D	0	-21.7209	15.5282	0.75928	1.0:0.0:0.0:0.0	.	268	Q96RY5	CRML_HUMAN	T	268;268;265	.	ENSP00000293925:K268T	K	+	2	0	CRAMP1L	1631165	1.000000	0.71417	0.967000	0.41034	0.582000	0.36321	8.836000	0.92105	2.076000	0.62316	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4	0	0	0	9	290	0	52	1	1.453968e-01	4	16	0	52	2		0	0	0	0	0	2	1	9.940508e-01	9	286	0	52	2								-3.191400	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.400000	0.190000	1.000000	0.360000	0.498776	0.400000	0	2.800000e-01	1
NPRL3	8131	broad.mit.edu	37	16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:169169G>A	ENST00000399953.3	-	3	676	c.274C>T	c.(274-276)Cga>Tga	p.R92*	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)			6					CCAACAAATCGCACATTATCA	0.478000																								0							SO:0001587	stop_gained			ENST00000399953.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	41	8.723317	0.98929	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-31.1374	18.0399	0.89316	0.0:0.0:1.0:0.0	.	.	.	.	X	92;92;105	.	ENSP00000262313:R92X	R	-	1	2	NPRL3	109169	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.451000	0.97610	2.569000	0.86673	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	21	67	0	21	0	9.999946e-01	1	73	0	21	2		0	0	0	0	0	2	1	9.999992e-01	21	67	0	21	2								-16.710270	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CRAMP1L	57585	broad.mit.edu	37	16	1705257	1705257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1705257A>G	ENST00000397412.3	+	9	1174	c.1075A>G	c.(1075-1077)Atc>Gtc	p.I359V	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.I359V|CRAMP1L_ENST00000262317.4_5'Flank|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)			22					CTCCAGCCTCATCGAATTCTT	0.532000																								0							SO:0001583	missense			ENST00000397412.3	0	1	hg19	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354142	0.82243	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	L	0.60455	1.87	0.80722	D	1	P	0.38597	0.639	B	0.33890	0.172	T	0.59573	-0.7429	9	0.72032	D	0.01	-27.0427	13.1975	0.59746	0.8676:0.1324:0.0:0.0	.	359	Q96RY5	CRML_HUMAN	V	359;359;356	.	ENSP00000293925:I359V	I	+	1	0	CRAMP1L	1645258	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.344000	0.79328	2.228000	0.72767	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4	0	0	0	9	326	0	57	0	1.216238e-01	0	20	0	57	2		0	0	0	0	0	2	1	9.938935e-01	9	320	0	57	2								-9.442693	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.360000	0.160000	1.000000	0.320000	0.464567	0.360000	0	2.500000e-01	1
CRAMP1L	57585	broad.mit.edu	37	16	1719150	1719150	+	Silent	SNP	G	G	A	rs150704705	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1719150G>A	ENST00000397412.3	+	19	3582	c.3483G>A	c.(3481-3483)tcG>tcA	p.S1161S	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.S1161S|CRAMP1L_ENST00000262317.4_Silent_p.S536S|CRAMP1L_ENST00000436138.3_Silent_p.S1158S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)			22					CCGACTCCTCGCTCAGCAGCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000397412.3	1	0	hg19	CCDS10440.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4	1	0	1	12	58	0	15	1	8.840475e-01	3	18	0	15	2		0	0	0	0	0	2	1	9.992845e-01	12	56	0	15	2								-3.143572	1	0	120874	154	47	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.998958	0.990000	1	9.900000e-01	1
XYLT1	64131	broad.mit.edu	37	16	17211831	17211831	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17211831G>A	ENST00000261381.6	-	11	2313	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I			67					CCCAGTCAGTGCCGACCTGAA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000261381.6	1	1	hg19	CCDS10569.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	1	0	0	25	211	0	60	0	9.278818e-01	1	39	0	60	2		0	0	0	0	0	2	1	9.999999e-01	25	208	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.870000	1.000000	1.000000	0.991827	0.990000	1	9.900000e-01	1
XYLT1	64131	broad.mit.edu	37	16	17352928	17352928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17352928C>T	ENST00000261381.6	-	3	914	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I			67					AATCTCCTGGCGGCAGTGCTT	0.607000																								0							SO:0001583	missense			ENST00000261381.6	1	1	hg19	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823876	0.90873	.	.	ENSG00000103489	ENST00000261381	T	0.07216	3.21	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03306	-1.1050	10	0.87932	D	0	-31.9029	18.2463	0.89986	0.0:1.0:0.0:0.0	.	277	Q86Y38	XYLT1_HUMAN	H	277	ENSP00000261381:R277H	ENSP00000261381:R277H	R	-	2	0	XYLT1	17260429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.988000	0.70579	2.547000	0.85894	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	1	0	1	83	428	0	96	1	9.999280e-01	7	66	0	96	2		0	0	0	0	0	2	1	1	82	421	0	95	2								-3.025038	1	1	121068	2	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XYLT1	64131	broad.mit.edu	37	16	17353281	17353281	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17353281G>A	ENST00000261381.6	-	3	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I			67					CATTCTCAAAGTCTTTGGGGA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000261381.6	1	1	hg19	CCDS10569.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	1	0	1	113	448	0	79	0	9.999535e-01	1	58	0	79	2		0	0	0	0	0	2	1	1	111	439	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK8IP3	23162	broad.mit.edu	37	16	1756509	1756509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1756509C>T	ENST00000250894.4	+	1	326	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3			42					GGAGCTCATGCCGCTGGTGGT	0.642000																								0							SO:0001583	missense			ENST00000250894.4	1	1	hg19	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319823	0.81469	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.73152	-0.72;-0.72	3.52	3.52	0.40303	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.97110	1.0;1.0;1.0;0.991	D	0.89170	0.3536	10	0.87932	D	0	-23.6301	14.8211	0.70074	0.0:1.0:0.0:0.0	.	57;57;57;57	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	S	57	ENSP00000250894:P57S;ENSP00000348290:P57S	ENSP00000250894:P57S	P	+	1	0	MAPK8IP3	1696510	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.319000	0.79040	1.790000	0.52503	0.185000	0.17295	CCG		TCGA-IB-7651-01A-11D-2154-08	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	1	0	1	47	155	0	35	1	9.404752e-01	7	11	0	35	2		0	0	0	0	0	2	1	1	47	153	0	35	2								-4.163628	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK8IP3	23162	broad.mit.edu	37	16	1816924	1816924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1816924C>A	ENST00000250894.4	+	25	3194	c.3037C>A	c.(3037-3039)Ctg>Atg	p.L1013M	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3			42					AGGCCGTGTGCTGGTGGCTCT	0.697000																								0							SO:0001583	missense			ENST00000250894.4	1	1	hg19	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921714	0.73213	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.38887	1.11;1.11	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.176079	0.38436	N	0.001696	T	0.64702	0.2622	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.989;0.993;0.998	T	0.71115	-0.4686	10	0.72032	D	0.01	-15.1615	16.1662	0.81757	0.0:1.0:0.0:0.0	.	1014;1007;1013	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	M	1013;1007	ENSP00000250894:L1013M;ENSP00000348290:L1007M	ENSP00000250894:L1013M	L	+	1	2	MAPK8IP3	1756925	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.686000	0.54685	1.976000	0.57569	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	0	0	1	85	436	1	99	1	9.932508e-01	11	52	1	99	4		0	0	0	0	0	2	1	1	84	423	1	96	18								-3.326472	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK8IP3	23162	broad.mit.edu	37	16	1817158	1817158	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1817158T>C	ENST00000250894.4	+	26	3251	c.3094T>C	c.(3094-3096)Tgg>Cgg	p.W1032R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3			42					AGATGGCCAGTGGGATCTGAG	0.622000																								0							SO:0001583	missense			ENST00000250894.4	1	1	hg19	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231571	0.79688	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.63744	-0.06;-0.06	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.91635	0.983;0.999;0.998	D	0.84928	0.0858	10	0.87932	D	0	-12.7884	12.9591	0.58447	0.0:0.0:0.0:1.0	.	1033;1026;1032	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	R	1032;1026	ENSP00000250894:W1032R;ENSP00000348290:W1026R	ENSP00000250894:W1032R	W	+	1	0	MAPK8IP3	1757159	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.811000	0.86092	1.610000	0.50200	0.482000	0.46254	TGG		TCGA-IB-7651-01A-11D-2154-08	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	1	0	1	152	625	0	121	1	9.999117e-01	24	33	0	121	2		0	0	0	0	0	2	1	1	146	619	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPS34	65993	broad.mit.edu	37	16	1822318	1822318	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1822318C>A	ENST00000397375.2	-	3	596	c.561G>T	c.(559-561)gaG>gaT	p.E187D	NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.E194D|EME2_ENST00000568449.1_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34			3					GCATGGGCTCCTCGGTGCTTG	0.592000																								0							SO:0001583	missense			ENST00000397375.2	1	1	hg19	CCDS10444.1	.	.	.	.	.	.	.	.	.	.	C	8.419	0.846007	0.16963	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.35236	1.32;1.32	4.31	2.18	0.27775	.	0.734279	0.13004	N	0.421381	T	0.25717	0.0626	L	0.43152	1.355	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.13710	-1.0499	10	0.38643	T	0.18	-24.4263	3.2935	0.06957	0.3427:0.4531:0.0:0.2042	.	194;187	C9JJ19;P82930	.;RT34_HUMAN	D	187;194	ENSP00000380531:E187D;ENSP00000177742:E194D	ENSP00000177742:E194D	E	-	3	2	MRPS34	1762319	0.999000	0.42202	0.928000	0.36995	0.025000	0.11179	0.828000	0.27435	0.812000	0.34326	-0.258000	0.10820	GAG		TCGA-IB-7651-01A-11D-2154-08	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	1	0	1	98	441	0	89	1	1	210	414	0	89	2		0	0	0	0	0	2	1	1	98	437	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPSB3	90864	broad.mit.edu	37	16	1827164	1827164	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827164C>T	ENST00000566339.1	-	7	1332	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SPSB3_ENST00000301717.4_Silent_p.A334A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3			10					GGGCGGAGGTCGCTGCCTGGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000566339.1	1	1	hg19	CCDS32365.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	1	0	1	33	414	0	54	1	9.999778e-01	39	166	0	54	2		0	0	0	0	0	2	1	1	33	404	0	52	2								-20.000000	1	1	120994	2	32	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.920000	0.630000	1.000000	1.000000	0.898065	0.920000	1	7.600000e-01	1
SPSB3	90864	broad.mit.edu	37	16	1827764	1827764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827764C>A	ENST00000566339.1	-	6	1035	c.705G>T	c.(703-705)aaG>aaT	p.K235N	SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3			10					ACTTCCTGTTCTTGAAAAAGG	0.617000																								0							SO:0001583	missense			ENST00000566339.1	1	1	hg19	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779810	0.31502	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.69806	-0.43	4.09	2.85	0.33270	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	L	0.58354	1.805	0.48395	D	0.999647	D	0.89917	1.0	D	0.83275	0.996	T	0.73665	-0.3911	10	0.62326	D	0.03	-18.758	5.8281	0.18564	0.0:0.6901:0.0:0.3099	.	235	Q6PJ21	SPSB3_HUMAN	N	235;39	ENSP00000301717:K235N	ENSP00000301717:K235N	K	-	3	2	SPSB3	1767765	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	1.369000	0.34227	1.821000	0.53095	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	1	0	1	51	216	0	39	1	1	45	138	0	39	2		0	0	0	0	0	2	1	1	49	214	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPSB3	90864	broad.mit.edu	37	16	1827983	1827983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827983C>T	ENST00000566339.1	-	5	889	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3			10					TCATCCCTGCCCAGCAGGCTG	0.697000																								0							SO:0001583	missense			ENST00000566339.1	1	1	hg19	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937168	0.92458	.	.	ENSG00000162032	ENST00000301717	D	0.86562	-2.14	4.29	4.29	0.51040	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	H	0.94771	3.58	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.95015	0.8155	10	0.87932	D	0	-31.5361	10.1509	0.42794	0.0:0.8992:0.0:0.1008	.	187	Q6PJ21	SPSB3_HUMAN	S	187	ENSP00000301717:G187S	ENSP00000301717:G187S	G	-	1	0	SPSB3	1767984	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	5.487000	0.66863	1.918000	0.55548	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	1	0	1	46	263	0	54	1	1	90	147	0	54	2		0	0	0	0	0	2	1	1	46	261	0	54	2								-3.080908	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
IGFALS	3483	broad.mit.edu	37	16	1841445	1841445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1841445C>T	ENST00000215539.3	-	2	1084	c.974G>A	c.(973-975)cGc>cAc	p.R325H	IGFALS_ENST00000415638.3_Missense_Mutation_p.R363H			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit			8					CTGCCGGATGCGGTTGTGGCC	0.667000																								0							SO:0001583	missense			ENST00000215539.3	1	1	hg19	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412083	0.25465	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.58210	0.35;0.35	5.37	3.02	0.34903	.	0.313999	0.31612	N	0.007360	T	0.59810	0.2221	L	0.58969	1.84	0.23950	N	0.996374	P;D	0.89917	0.768;1.0	B;D	0.70935	0.215;0.971	T	0.49123	-0.8972	10	0.15066	T	0.55	.	7.5217	0.27633	0.0:0.6865:0.1539:0.1596	.	363;325	E9PGU3;P35858	.;ALS_HUMAN	H	325;363	ENSP00000215539:R325H;ENSP00000416683:R363H	ENSP00000215539:R325H	R	-	2	0	IGFALS	1781446	0.933000	0.31639	0.851000	0.33527	0.523000	0.34469	1.883000	0.39658	1.238000	0.43771	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2	1	0	1	29	133	0	41	0	3.033422e-01	0	6	0	41	2		0	0	0	0	0	2	1	1	29	129	0	39	2								-20.000000	1	1	121274	2	28	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NOMO2	283820	broad.mit.edu	37	16	18532153	18532153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18532153G>T	ENST00000381474.3	-	19	2272	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H|NOMO2_ENST00000330537.6_Missense_Mutation_p.P736H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2			20					CTGCACGGGAGGCTTGGTCAT	0.557000																								0							SO:0001583	missense			ENST00000381474.3	1	1	hg19	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163273	0.38217	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04119	3.72;3.71;3.7	3.37	2.4	0.29515	.	0.056200	0.64402	D	0.000001	T	0.07143	0.0181	N	0.08118	0	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	T	0.45293	-0.9271	10	0.46703	T	0.11	-11.1418	9.5696	0.39420	0.1064:0.0:0.8936:0.0	.	569;736	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	736;736;569	ENSP00000331851:P736H;ENSP00000370883:P736H;ENSP00000439970:P569H	ENSP00000331851:P736H	P	-	2	0	NOMO2	18439654	1.000000	0.71417	0.092000	0.20876	0.179000	0.23085	6.912000	0.75753	0.719000	0.32188	0.455000	0.32223	CCT		TCGA-IB-7651-01A-11D-2154-08	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	0	0	0	140	1074	0	267	1	1	51	253	0	267	2		0	0	0	0	0	2	1	1	136	1029	0	381	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HAGH	3029	broad.mit.edu	37	16	1866938	1866938	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1866938C>T	ENST00000397356.3	-	7	1109	c.703G>A	c.(703-705)Gag>Aag	p.E235K	HAGH_ENST00000455446.2_Nonsense_Mutation_p.W198*|HAGH_ENST00000566709.1_Missense_Mutation_p.E187K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase			5		Hepatocellular(780;0.00335)		Glutathione(DB00143)	TTGCCGGGCTCCACGTGGCGT	0.627000													Pancreas(55;1048 1176 25227 40124 41333)											0							SO:0001583	missense			ENST00000397356.3	0	0	hg19	CCDS10447.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.675775|5.675775	0.96764|0.96764	.|.	.|.	ENSG00000063854|ENSG00000063854	ENST00000397356;ENST00000397353|ENST00000455446	D;D|.	0.96041|.	-3.89;-3.89|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87305|.	0.6144|.	H|H	0.95611|0.95611	3.695|3.695	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.989|.	D|.	0.91263|.	0.5038|.	10|.	0.87932|0.72032	D|D	0|0.01	-1.0464|-1.0464	17.2325|17.2325	0.86988|0.86988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs35956038|rs35956038	187;235|.	Q16775-2;Q16775|.	.;GLO2_HUMAN|.	K|X	235;187|198	ENSP00000380514:E235K;ENSP00000380511:E187K|.	ENSP00000380511:E187K|ENSP00000406552:W198X	E|W	-|-	1|3	0|0	HAGH|HAGH	1806939|1806939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.767000|0.767000	0.43475|0.43475	7.442000|7.442000	0.80503|0.80503	2.313000|2.313000	0.78055|0.78055	0.655000|0.655000	0.94253|0.94253	GAG|TGG		TCGA-IB-7651-01A-11D-2154-08	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	1	0	1	35	179	0	45	1	1	72	175	0	45	2		0	0	0	0	0	2	1	1	35	177	0	44	2								-20.000000	1	1	121410	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FAHD1	81889	broad.mit.edu	37	16	1877337	1877337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1877337G>T	ENST00000427358.2	+	1	113	c.107G>T	c.(106-108)aGc>aTc	p.S36I	HAGH_ENST00000397356.3_5'Flank|HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I|FAHD1_ENST00000382666.4_Missense_Mutation_p.S36I|HAGH_ENST00000397353.2_5'Flank	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1			6					GAGATGCGCAGCGCGGTGTTG	0.647000																								0							SO:0001583	missense			ENST00000427358.2	1	1	hg19	CCDS10448.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633616	0.67015	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	T;T;T	0.39997	1.05;1.05;1.05	4.71	4.71	0.59529	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.111145	0.64402	D	0.000012	T	0.30198	0.0757	L	0.28400	0.85	0.39297	D	0.964838	B;B;B	0.30973	0.108;0.302;0.131	B;B;B	0.29663	0.037;0.105;0.063	T	0.25710	-1.0124	10	0.62326	D	0.03	.	10.0609	0.42275	0.0932:0.0:0.9068:0.0	.	36;36;36	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	I	36	ENSP00000372114:S36I;ENSP00000372112:S36I;ENSP00000398053:S36I	ENSP00000372112:S36I	S	+	2	0	FAHD1	1817338	1.000000	0.71417	0.915000	0.36163	0.984000	0.73092	5.125000	0.64715	2.458000	0.83093	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250550.2	1	0	1	55	241	0	60	1	9.999949e-01	34	48	0	60	2		0	0	0	0	0	2	1	1	54	238	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG1	23049	broad.mit.edu	37	16	18823443	18823443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18823443C>T	ENST00000446231.2	-	61	11040	c.10628G>A	c.(10627-10629)cGg>cAg	p.R3543Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase			92					AGTGTTACTCCGGACTGCTAC	0.473000																								0							SO:0001583	missense			ENST00000446231.2	1	1	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943109	0.73672	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01265	5.08;5.08	5.87	5.87	0.94306	.	0.094431	0.46758	D	0.000266	T	0.01730	0.0055	L	0.29908	0.895	0.34855	D	0.742045	P	0.49253	0.921	B	0.37780	0.258	T	0.68059	-0.5509	10	0.27082	T	0.32	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	3543	Q96Q15	SMG1_HUMAN	Q	3543;3544	ENSP00000402515:R3543Q;ENSP00000374118:R3544Q	ENSP00000374118:R3544Q	R	-	2	0	SMG1	18730944	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.481000	0.60250	2.941000	0.99782	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	1	0	1	47	232	0	49	1	1	40	108	0	49	2		0	0	0	0	0	2	1	1	47	227	0	48	2								-2.375657	0	1	120932	5	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG1	23049	broad.mit.edu	37	16	18840938	18840938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18840938C>T	ENST00000446231.2	-	54	9685	c.9273G>A	c.(9271-9273)agG>agA	p.R3091R	SMG1_ENST00000389467.3_Silent_p.R3091R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase			92					TCAAGAGCTGCCTCACAAAGT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000446231.2	1	1	hg19	CCDS45430.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	1	0	1	30	155	0	29	1	9.999781e-01	22	69	0	29	2		0	0	0	0	0	2	1	1	29	152	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
SMG1	23049	broad.mit.edu	37	16	18849783	18849783	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18849783T>G	ENST00000446231.2	-	44	7502	c.7090A>C	c.(7090-7092)Agc>Cgc	p.S2364R	SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase			92					ACTCTAAGGCTTTTACCTTGA	0.343000																								0							SO:0001583	missense			ENST00000446231.2	1	1	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078884	0.76528	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.74632	-0.86;-0.86	5.87	5.87	0.94306	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	N	0.02842	-0.48	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71248	-0.4649	10	0.17369	T	0.5	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	2364	Q96Q15	SMG1_HUMAN	R	2364	ENSP00000402515:S2364R;ENSP00000374118:S2364R	ENSP00000374118:S2364R	S	-	1	0	SMG1	18757284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.970000	0.88000	2.371000	0.80710	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	1	0	1	73	276	0	72	1	9.998230e-01	11	40	0	72	2		0	0	0	0	0	2	1	1	72	274	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG1	23049	broad.mit.edu	37	16	18856783	18856783	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18856783T>C	ENST00000446231.2	-	39	6599	c.6187A>G	c.(6187-6189)Aag>Gag	p.K2063E	SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase			92					CTCCCAGGCTTTGCAGGGTTC	0.428000																								0							SO:0001583	missense			ENST00000446231.2	1	1	hg19	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152266	0.78001	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.79	5.79	0.91817	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.01627	0.0052	L	0.38175	1.15	0.42668	D	0.993502	B;B	0.25809	0.135;0.039	B;B	0.25405	0.06;0.027	T	0.66056	-0.6018	10	0.31617	T	0.26	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	1923;2063	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	E	2063	ENSP00000402515:K2063E;ENSP00000374118:K2063E	ENSP00000374118:K2063E	K	-	1	0	SMG1	18764284	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.008000	0.88588	2.209000	0.71365	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	1	0	1	50	211	0	55	1	9.993783e-01	18	32	0	55	2		0	0	0	0	0	2	1	1	50	211	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMC7	79905	broad.mit.edu	37	16	19058438	19058438	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19058438A>G	ENST00000304381.5	+	12	1737	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R	TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R|TMC7_ENST00000421369.3_Missense_Mutation_p.Q426R	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7			28					TGGGGGCAGCAGGAGTTTGCC	0.532000																								0							SO:0001583	missense			ENST00000304381.5	1	1	hg19	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752720	0.89753	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.64803	-0.12;-0.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.85373	2.75	0.58432	D	0.999997	D;P	0.53151	0.958;0.915	P;P	0.62560	0.904;0.885	D	0.83469	0.0058	10	0.72032	D	0.01	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	536;536	Q7Z402;B3KSZ3	TMC7_HUMAN;.	R	536;426	ENSP00000304710:Q536R;ENSP00000397081:Q426R	ENSP00000304710:Q536R	Q	+	2	0	TMC7	18965939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.169000	0.71913	2.146000	0.66826	0.533000	0.62120	CAG		TCGA-IB-7651-01A-11D-2154-08	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	1	0	1	284	1121	0	260	1	9.952835e-01	15	19	0	260	2		0	0	0	0	0	2	1	1	279	1095	0	257	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT17	51760	broad.mit.edu	37	16	19195263	19195263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19195263C>T	ENST00000355377.2	+	5	1143	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	SYT17_ENST00000568115.1_Missense_Mutation_p.R188C|SYT17_ENST00000562711.2_Missense_Mutation_p.R245C|SYT17_ENST00000562034.1_Missense_Mutation_p.R188C	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII			17					CGGGGTCAAACGCAAGACCCA	0.597000																								0							SO:0001583	missense			ENST00000355377.2	1	1	hg19	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	c	19.59	3.855826	0.71834	0.0	1.16E-4	ENSG00000103528	ENST00000355377	T	0.70749	-0.51	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.74558	0.3732	M	0.65975	2.015	0.80722	D	1	B;B	0.24618	0.107;0.061	B;B	0.31946	0.095;0.138	T	0.73033	-0.4110	10	0.87932	D	0	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	249;188	Q9BSW7;B4DJB2	SYT17_HUMAN;.	C	249	ENSP00000347538:R249C	ENSP00000347538:R249C	R	+	1	0	SYT17	19102764	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.747000	0.62141	2.661000	0.90470	0.558000	0.71614	CGC		TCGA-IB-7651-01A-11D-2154-08	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	1	0	1	139	722	0	159	0	5.520699e-01	1	10	0	159	2		0	0	0	0	0	2	1	1	137	709	0	154	2								-20.000000	1	1	121412	5	42	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf62	57020	broad.mit.edu	37	16	19702706	19702706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19702706C>T	ENST00000251143.5	+	29	2571	c.2559C>T	c.(2557-2559)gaC>gaT	p.D853D	C16orf62_ENST00000448695.1_Silent_p.D703D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000438132.3_Silent_p.D942D|C16orf62_ENST00000417362.2_Silent_p.D760D|C16orf62_ENST00000542263.1_Silent_p.D849D			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62			36					ACGGGGGAGACTCCAAGTTCC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000251143.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	50	151	0	44	1	1	18	168	0	44	2		0	0	0	0	0	2	1	1	50	145	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf62	57020	broad.mit.edu	37	16	19710833	19710833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19710833C>T	ENST00000251143.5	+	30	2668	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000438132.3_Missense_Mutation_p.R975C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62			36					GGCCCTGAAGCGCCAGAGCTC	0.582000																								0							SO:0001583	missense			ENST00000251143.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.6	4.316318	0.81469	0.0	1.16E-4	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.67698	-0.28;0.6;-0.28;0.6;-0.28	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59288	0.736;0.855	T	0.80603	-0.1309	9	.	.	.	-15.6426	17.699	0.88289	0.0:1.0:0.0:0.0	.	882;886	F5H7K1;Q7Z3J2	.;CP062_HUMAN	C	975;882;886;793;736	ENSP00000400815:R975C;ENSP00000442468:R882C;ENSP00000251143:R886C;ENSP00000395973:R793C;ENSP00000398009:R736C	.	R	+	1	0	C16orf62	19618334	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.790000	0.47821	2.225000	0.72522	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	36	208	0	57	1	9.999974e-01	38	80	0	57	2		0	0	0	0	0	2	1	1	36	200	0	57	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
IQCK	124152	broad.mit.edu	37	16	19838353	19838353	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19838353C>T	ENST00000320394.6	+	9	1395	c.696C>T	c.(694-696)cgC>cgT	p.R232R	IQCK_ENST00000541926.1_Missense_Mutation_p.A204V|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000562762.1_3'UTR	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K			6					TCCAGGTTCGCTGTGATCCTG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000320394.6	1	1	hg19	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554189	0.45487	.	.	ENSG00000174628	ENST00000541926	.	.	.	5.73	2.24	0.28232	.	.	.	.	.	T	0.33381	0.0861	.	.	.	0.80722	D	1	P	0.35628	0.513	B	0.34093	0.175	T	0.06935	-1.0799	6	.	.	.	-17.3005	3.5784	0.07943	0.0:0.4875:0.2148:0.2977	.	204	B4DXE1	.	V	204	.	.	A	+	2	0	IQCK	19745854	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	0.930000	0.28858	0.867000	0.35654	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	0	0	1	82	394	0	92	1	9.941074e-01	8	32	0	92	2		0	0	0	0	0	2	1	1	82	385	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRC5B	51704	broad.mit.edu	37	16	19883239	19883239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883239G>A	ENST00000300571.2	-	2	1120	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B			25					GGGCTGCGACGTGTCGAAGTA	0.617000																								0							SO:0001583	missense			ENST00000300571.2	1	1	hg19	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327035	0.81690	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.29917	1.57;1.56;1.55	5.18	5.18	0.71444	.	0.056857	0.64402	D	0.000001	T	0.50667	0.1629	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.83275	0.877;0.996	T	0.35773	-0.9775	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	336;310	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	310;310;159;336	ENSP00000300571:T310M;ENSP00000442858:T310M;ENSP00000441775:T336M	.	T	-	2	0	GPRC5B	19790740	1.000000	0.71417	0.956000	0.39512	0.981000	0.71138	7.371000	0.79600	2.688000	0.91661	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	1	96	371	0	82	1	9.999984e-01	3	73	0	82	2		0	0	0	0	0	2	1	1	94	363	0	78	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRC5B	51704	broad.mit.edu	37	16	19883350	19883350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883350G>A	ENST00000300571.2	-	2	1009	c.818C>T	c.(817-819)gCc>gTc	p.A273V	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B			25					CAGCGTGATGGCCAAGGTGGG	0.622000																								0							SO:0001583	missense			ENST00000300571.2	1	1	hg19	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551288	0.86127	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.88431	-2.38;-2.38;-2.38	5.18	5.18	0.71444	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.977	D	0.94209	0.7457	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	299;273	B7Z831;Q9NZH0	.;GPC5B_HUMAN	V	273;273;122;299	ENSP00000300571:A273V;ENSP00000442858:A273V;ENSP00000441775:A299V	.	A	-	2	0	GPRC5B	19790851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.640000	0.83355	2.688000	0.91661	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	1	57	215	0	36	1	9.996605e-01	2	46	0	36	2		0	0	0	0	0	2	1	1	57	212	0	35	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRC5B	51704	broad.mit.edu	37	16	19883423	19883423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883423C>T	ENST00000300571.2	-	2	936	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B			25					GTCATCCAGGCCACCCAGATG	0.622000																								0							SO:0001583	missense			ENST00000300571.2	1	1	hg19	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371618	0.61624	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89270	-2.49;-2.49;-2.49	5.44	2.43	0.29744	GPCR, family 3, C-terminal (2);	0.185119	0.47093	N	0.000251	D	0.85031	0.5604	L	0.59436	1.845	0.48135	D	0.999599	B;P	0.36683	0.125;0.565	B;B	0.37015	0.043;0.239	T	0.79279	-0.1869	9	.	.	.	.	10.1545	0.42814	0.0:0.7848:0.0:0.2152	.	275;249	B7Z831;Q9NZH0	.;GPC5B_HUMAN	T	249;249;98;275	ENSP00000300571:A249T;ENSP00000442858:A249T;ENSP00000441775:A275T	.	A	-	1	0	GPRC5B	19790924	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.802000	0.62539	0.414000	0.25790	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	0	25	224	0	35	0	9.784540e-01	1	57	0	35	2		0	0	0	0	0	2	1	9.999999e-01	24	221	0	35	2								-10.593960	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.820000	1.000000	1.000000	0.986533	0.990000	1	9.900000e-01	1
GPRC5B	51704	broad.mit.edu	37	16	19883930	19883930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883930G>A	ENST00000300571.2	-	2	429	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	p.R80W(1)		25					AAGGGCAGCCGCACCAGGAGG	0.637000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000300571.2	1	1	hg19	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446399	0.63178	2.28E-4	2.33E-4	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.89552	-2.53;-2.53;-2.53	5.8	2.32	0.28847	GPCR, family 3, C-terminal (1);	0.063725	0.64402	D	0.000012	D	0.92492	0.7616	M	0.64997	1.995	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	P;D	0.87578	0.861;0.998	D	0.91511	0.5227	9	.	.	.	.	13.9379	0.64036	0.0:0.0:0.4665:0.5335	.	106;80	B7Z831;Q9NZH0	.;GPC5B_HUMAN	W	80;80;80;106	ENSP00000300571:R80W;ENSP00000442858:R80W;ENSP00000441775:R106W	.	R	-	1	2	GPRC5B	19791431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.630000	0.46494	0.737000	0.32582	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	1	61	278	0	52	0	9.984842e-01	1	46	0	52	2		0	0	0	0	0	2	1	1	61	277	0	52	2								-3.061086	1	1	121412	27	45	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL3L	6123	broad.mit.edu	37	16	1995840	1995840	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1995840C>A	ENST00000268661.7	-	8	1137	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000564908.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like			17					GCCAACCTTTCTCAGCGTAAT	0.627000																								0							SO:0001583	missense			ENST00000268661.7	1	1	hg19	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751754	0.49362	.	.	ENSG00000140986	ENST00000268661	T	0.29917	1.55	4.25	3.3	0.37823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79453	-0.1797	10	0.87932	D	0	-35.042	11.1468	0.48434	0.0:0.9078:0.0:0.0922	.	348	Q92901	RL3L_HUMAN	I	348	ENSP00000268661:R348I	ENSP00000268661:R348I	R	-	2	0	RPL3L	1935841	0.977000	0.34250	0.996000	0.52242	0.003000	0.03518	7.383000	0.79741	1.125000	0.41998	-0.251000	0.11542	AGA		TCGA-IB-7651-01A-11D-2154-08	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	1	0	1	102	407	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	99	397	0	91	2								-3.643442	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL3L	6123	broad.mit.edu	37	16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	rs149043671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like			17					GGCCACCTTGCGCAGGCCCTT	0.672000																								0							SO:0001583	missense			ENST00000268661.7	1	1	hg19	CCDS10450.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.65	3.182570	0.57800	6.82E-4	2.33E-4	ENSG00000140986	ENST00000268661	T	0.56611	0.45	4.92	3.97	0.46021	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.85301	0.1073	10	0.87932	D	0	-17.0973	12.5964	0.56472	0.0:0.9191:0.0:0.0809	.	249	Q92901	RL3L_HUMAN	H	249	ENSP00000268661:R249H	ENSP00000268661:R249H	R	-	2	0	RPL3L	1937043	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.729000	0.84864	1.195000	0.43115	-0.136000	0.14681	CGC		TCGA-IB-7651-01A-11D-2154-08	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	1	0	0	27	511	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	27	506	0	88	2								-5.528184	1	1	121392	16	44	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.630000	0.410000	1.000000	0.600000	0.684023	0.630000	0	5.100000e-01	1
GPR139	124274	broad.mit.edu	37	16	20043299	20043299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043299C>A	ENST00000570682.1	-	2	1120	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	p.A274S(1)		30					TTCAGAAGGGCTAGCATGTTG	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000570682.1	1	1	hg19	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209851	0.79240	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63972	-0.6516	9	0.06365	T	0.9	-38.6886	19.1302	0.93402	0.0:1.0:0.0:0.0	.	274	Q6DWJ6	GP139_HUMAN	S	274	.	ENSP00000370779:A274S	A	-	1	0	GPR139	19950800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.754000	0.94517	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	1	0	1	124	401	1	88		0	0	0	1	88	2		0	0	0	0	0	2	1	1	120	389	1	88	19								-5.034672	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR139	124274	broad.mit.edu	37	16	20043983	20043983	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043983A>G	ENST00000570682.1	-	2	436	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139			30					ATCACTGTCAAGATATTTGCT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000570682.1	1	1	hg19	CCDS32398.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	1	0	0	6	167	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	9.651724e-01	6	166	0	44	2								-8.694698	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.480000	0.190000	1.000000	0.400000	0.560341	0.480000	0	3.100000e-01	1
GP2	2813	broad.mit.edu	37	16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20331047A>G	ENST00000381362.4	-	7	987	c.911T>C	c.(910-912)gTc>gCc	p.V304A	GP2_ENST00000302555.5_Missense_Mutation_p.V301A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)			48					GAAATCATTGACCAAGGAGAG	0.423000																								0							SO:0001583	missense			ENST00000381362.4	1	1	hg19	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	1.176	-0.639563	0.03557	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.23	-0.144	0.13440	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.53948	0.1828	N	0.03194	-0.395	0.24878	N	0.992248	B;B;B;B	0.16166	0.001;0.016;0.001;0.001	B;B;B;B	0.23716	0.005;0.048;0.003;0.004	T	0.44620	-0.9316	9	0.02654	T	1	-6.6727	9.2908	0.37786	0.529:0.0:0.471:0.0	.	154;282;301;304	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	301;304;157;154;282	ENSP00000304044:V301A;ENSP00000370767:V304A;ENSP00000370765:V157A;ENSP00000343861:V154A	ENSP00000304044:V301A	V	-	2	0	GP2	20238548	0.017000	0.18338	0.922000	0.36590	0.670000	0.39368	-0.346000	0.07760	0.049000	0.15920	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	1	0	1	188	904	0	184	0	1	0	441	0	184	2		0	0	0	0	0	2	1	1	182	884	0	184	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UMOD	7369	broad.mit.edu	37	16	20355365	20355365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20355365C>T	ENST00000570689.1	-	6	1458	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	UMOD_ENST00000396134.2_Missense_Mutation_p.A471T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T|UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T|UMOD_ENST00000302509.4_Missense_Mutation_p.A438T			P07911	UROM_HUMAN	uromodulin			41					GGCTGTAGGGCGGTCTTCAGG	0.542000																								0							SO:0001583	missense			ENST00000570689.1	1	1	hg19	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343922	0.41498	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.49	1.89	0.25635	Zona pellucida sperm-binding protein (3);	0.137477	0.34110	N	0.004243	T	0.76659	0.4018	L	0.52364	1.645	0.19775	N	0.999956	P;P	0.40282	0.543;0.711	B;P	0.45610	0.18;0.487	T	0.67647	-0.5617	10	0.59425	D	0.04	-31.8589	7.0744	0.25197	0.3886:0.4834:0.0:0.128	.	471;438	E9PEA4;P07911	.;UROM_HUMAN	T	438;471;471;438;416;438	ENSP00000379438:A471T;ENSP00000416346:A471T;ENSP00000306279:A438T;ENSP00000379446:A438T	ENSP00000306279:A438T	A	-	1	0	UMOD	20262866	0.358000	0.24947	0.989000	0.46669	0.740000	0.42216	0.371000	0.20450	0.339000	0.23719	-0.264000	0.10439	GCC		TCGA-IB-7651-01A-11D-2154-08	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	1	0	1	61	211	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	58	208	0	53	2								-20.000000	1	1	121412	2	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFER	2671	broad.mit.edu	37	16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.R104H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration			5				Flavin adenine dinucleotide(DB03147)	GAAGTGAACCGCAAGCTGGGC	0.607000																								0							SO:0001583	missense			ENST00000248114.6	1	1	hg19	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.680098	0.47886	0.0	2.33E-4	ENSG00000127554	ENST00000248114	T	0.55234	0.53	4.43	1.06	0.20224	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.442657	0.21663	N	0.070988	T	0.54775	0.1879	M	0.89601	3.045	0.43304	D	0.995307	B;B	0.17667	0.023;0.01	B;B	0.13407	0.009;0.009	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.2452	6.6271	0.22837	0.1669:0.0:0.6913:0.1418	.	105;179	Q9UQK8;P55789	.;ALR_HUMAN	H	179	ENSP00000248114:R179H	ENSP00000248114:R179H	R	+	2	0	GFER	1975948	0.135000	0.22499	0.986000	0.45419	0.823000	0.46562	0.436000	0.21526	0.420000	0.25954	0.511000	0.50034	CGC		TCGA-IB-7651-01A-11D-2154-08	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	1	0	0	66	617	0	114	1	9.999576e-01	10	125	0	114	2		0	0	0	0	0	2	1	1	65	606	0	112	2								-3.075755	1	1	121396	15	46	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.910000	1.000000	1.000000	0.995021	0.990000	1	9.900000e-01	1
GFER	2671	broad.mit.edu	37	16	2035969	2035969	+	Silent	SNP	C	C	T	rs142220504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035969C>T	ENST00000248114.6	+	3	564	c.558C>T	c.(556-558)ttC>ttT	p.F186F	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Silent_p.F111F	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	p.F186F(1)		5				Flavin adenine dinucleotide(DB03147)	AGCCTGACTTCGACTGCTCAA	0.607000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000248114.6	1	1	hg19	CCDS32368.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	1	0	0	115	521	0	101	1	1	43	108	0	101	2		0	0	0	0	0	2	1	1	114	513	0	99	2								-20.000000	1	0	121392	6	43	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDILT	204474	broad.mit.edu	37	16	20384360	20384360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20384360C>A	ENST00000302451.4	-	6	1014	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed			61					ATCACAAAATCTGTAAGGTGC	0.443000																								0							SO:0001583	missense			ENST00000302451.4	1	1	hg19	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728574	0.48833	.	.	ENSG00000169340	ENST00000302451	T	0.30182	1.54	4.91	3.93	0.45458	Thioredoxin-like fold (3);	0.196686	0.52532	D	0.000075	T	0.46870	0.1415	L	0.59436	1.845	0.09310	N	0.999991	D	0.76494	0.999	D	0.65323	0.934	T	0.32214	-0.9915	10	0.72032	D	0.01	.	10.8628	0.46835	0.0:0.8095:0.1905:0.0	.	256	Q8N807	PDILT_HUMAN	Y	256	ENSP00000305465:D256Y	ENSP00000305465:D256Y	D	-	1	0	PDILT	20291861	0.040000	0.19996	0.186000	0.23195	0.862000	0.49288	1.154000	0.31688	1.223000	0.43536	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	1	0	1	135	582	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1	126	574	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSM5	54988	broad.mit.edu	37	16	20422901	20422901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20422901C>A	ENST00000331849.4	+	2	242	c.95C>A	c.(94-96)cCt>cAt	p.P32H	ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5			51					CTACCTGTTCCTCAGAAGATC	0.577000																								0							SO:0001583	missense			ENST00000331849.4	1	1	hg19	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879921	0.33162	.	.	ENSG00000183549	ENST00000331849	T	0.51817	0.69	4.69	3.74	0.42951	.	1.094530	0.07036	N	0.829339	T	0.44222	0.1283	L	0.46157	1.445	0.21355	N	0.999718	B	0.28933	0.228	B	0.29176	0.099	T	0.34527	-0.9825	10	0.34782	T	0.22	-6.7651	10.9456	0.47299	0.0:0.9118:0.0:0.0882	.	32	Q6NUN0	ACSM5_HUMAN	H	32	ENSP00000327916:P32H	ENSP00000327916:P32H	P	+	2	0	ACSM5	20330402	0.007000	0.16637	0.277000	0.24703	0.061000	0.15899	1.969000	0.40510	1.187000	0.43000	-0.140000	0.14226	CCT		TCGA-IB-7651-01A-11D-2154-08	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	1	0	1	51	205	0	48	0	5.649622e-01	0	9	0	48	2		0	0	0	0	0	2	1	1	48	203	0	48	2								-3.278594	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNGR3	9143	broad.mit.edu	37	16	2042719	2042719	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042719G>A	ENST00000248121.2	+	3	578	c.420G>A	c.(418-420)acG>acA	p.T140T	SYNGR3_ENST00000562045.1_Missense_Mutation_p.R52H	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3			3					CGGCCACGACGCAGGCGGGGG	0.721000																								0							SO:0001819	synonymous_variant			ENST00000248121.2	1	1	hg19	CCDS10456.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1	0	0	0	24	106	0	15	1	2.429306e-01	3	2	0	15	2		0	0	0	0	0	2	1	9.999998e-01	24	102	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
SYNGR3	9143	broad.mit.edu	37	16	2042976	2042976	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042976T>C	ENST00000248121.2	+	4	751	c.593T>C	c.(592-594)gTg>gCg	p.V198A	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3			3					GGCTATCCGGTGGGCAGCGGC	0.692000																								0							SO:0001583	missense			ENST00000248121.2	1	1	hg19	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	t	2.597	-0.293785	0.05568	.	.	ENSG00000127561	ENST00000248121	T	0.12984	2.63	3.63	2.48	0.30137	.	0.367084	0.27442	N	0.019357	T	0.05502	0.0145	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.16896	T	0.51	.	3.3863	0.07273	0.0:0.3591:0.0:0.6409	.	198	O43761	SNG3_HUMAN	A	198	ENSP00000248121:V198A	ENSP00000248121:V198A	V	+	2	0	SYNGR3	1982977	0.982000	0.34865	0.994000	0.49952	0.865000	0.49528	2.578000	0.46051	1.512000	0.48834	0.379000	0.24179	GTG		TCGA-IB-7651-01A-11D-2154-08	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1	1	0	0	28	138	0	26	1	8.687825e-01	7	13	0	26	2		0	0	0	0	0	2	1	1	26	131	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
ACSM5	54988	broad.mit.edu	37	16	20430652	20430652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20430652C>T	ENST00000331849.4	+	4	665	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5			51					GACTCCCTAGCTCCAAGGGTG	0.582000																								0							SO:0001583	missense			ENST00000331849.4	1	1	hg19	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946946	0.53186	.	.	ENSG00000183549	ENST00000331849	T	0.50001	0.76	4.65	3.7	0.42460	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000011	T	0.44329	0.1288	L	0.39147	1.195	0.40815	D	0.983451	P	0.45396	0.857	P	0.48400	0.576	T	0.37820	-0.9689	10	0.42905	T	0.14	-11.2626	9.1503	0.36959	0.0:0.8309:0.0:0.1691	.	173	Q6NUN0	ACSM5_HUMAN	V	173	ENSP00000327916:A173V	ENSP00000327916:A173V	A	+	2	0	ACSM5	20338153	0.994000	0.37717	0.897000	0.35233	0.471000	0.32888	3.242000	0.51384	1.303000	0.44873	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	1	0	1	63	227	0	65	0	3.894710e-01	0	6	0	65	2		0	0	0	0	0	2	1	1	63	221	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSM5	54988	broad.mit.edu	37	16	20442373	20442373	+	Missense_Mutation	SNP	C	C	T	rs113178652	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20442373C>T	ENST00000331849.4	+	9	1331	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5			51					ATGGGGAAGGCGTCCCCACCC	0.552000																								0							SO:0001583	missense			ENST00000331849.4	1	1	hg19	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582553	0.65992	.	.	ENSG00000183549	ENST00000331849	T	0.40756	1.02	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.000000	0.52532	D	0.000069	T	0.57814	0.2079	L	0.59436	1.845	0.42229	D	0.991882	D	0.89917	1.0	P	0.61397	0.888	T	0.63915	-0.6529	10	0.72032	D	0.01	-15.9681	16.0686	0.80907	0.0:1.0:0.0:0.0	.	395	Q6NUN0	ACSM5_HUMAN	V	395	ENSP00000327916:A395V	ENSP00000327916:A395V	A	+	2	0	ACSM5	20349874	0.921000	0.31238	0.901000	0.35422	0.230000	0.25150	3.621000	0.54210	2.119000	0.64992	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	1	0	1	181	932	0	202	0	1.271111e-01	0	4	0	202	2		0	0	0	0	0	2	1	1	152	911	0	202	2								-20.000000	1	1	121412	10	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSM5	54988	broad.mit.edu	37	16	20448438	20448438	+	Missense_Mutation	SNP	G	G	A	rs141553052	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20448438G>A	ENST00000331849.4	+	11	1520	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5			51					GACCGAGCTCGCATGGACAAG	0.478000																								0							SO:0001583	missense			ENST00000331849.4	1	1	hg19	CCDS10585.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	8.711	0.911994	0.17907	0.0	1.16E-4	ENSG00000183549	ENST00000331849	T	0.50548	0.74	5.15	-10.3	0.00346	AMP-dependent synthetase/ligase (1);	1.371240	0.04612	N	0.400456	T	0.24005	0.0581	N	0.25031	0.7	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06789	-1.0807	10	0.22706	T	0.39	-0.8747	3.6884	0.08336	0.19:0.0888:0.4284:0.2928	.	458	Q6NUN0	ACSM5_HUMAN	H	458	ENSP00000327916:R458H	ENSP00000327916:R458H	R	+	2	0	ACSM5	20355939	0.000000	0.05858	0.006000	0.13384	0.835000	0.47333	-0.596000	0.05720	-2.007000	0.00956	-0.781000	0.03364	CGC		TCGA-IB-7651-01A-11D-2154-08	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	1	0	0	61	642	1	128	0	1.211398e-01	0	7	1	128	2		0	0	0	0	0	2	1	9.999998e-01	61	626	1	129	18								-15.217400	1	0	121412	9	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.810000	1.000000	1.000000	0.975859	0.990000	1	9.300000e-01	1
ACSM2A	123876	broad.mit.edu	37	16	20476939	20476939	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20476939C>T	ENST00000573854.1	+	3	392	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A			51					AGCCAGCAGGCAGCCAACGTC	0.612000																								0							SO:0001583	missense			ENST00000573854.1	1	1	hg19	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860063	0.32884	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.76	1.74	0.24563	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.15089	0.0364	N	0.17312	0.475	0.23174	N	0.998176	B;B	0.34290	0.174;0.447	B;B	0.26202	0.046;0.067	T	0.20505	-1.0273	10	0.02654	T	1	-0.3522	7.392	0.26915	0.0:0.6887:0.0:0.3113	.	14;93	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	V	14;93;93;93	ENSP00000392169:A14V;ENSP00000219054:A93V;ENSP00000394904:A93V;ENSP00000379411:A93V	ENSP00000219054:A93V	A	+	2	0	ACSM2A	20384440	0.010000	0.17322	0.051000	0.19133	0.453000	0.32348	0.333000	0.19768	0.200000	0.20447	0.298000	0.19748	GCA		TCGA-IB-7651-01A-11D-2154-08	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	0	0	0	26	345	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	9.999999e-01	25	334	0	90	2								-7.606588	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.880000	0.570000	1.000000	1.000000	0.868292	0.880000	1	7.100000e-01	1
ZNF598	90850	broad.mit.edu	37	16	2048484	2048484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048484C>T	ENST00000563630.1	-	12	2541	c.2299G>A	c.(2299-2301)Gcc>Acc	p.A767T	ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T			Q86UK7	ZN598_HUMAN	zinc finger protein 598			16					TGCTGCTTGGCCGTGTCGGGC	0.582000																								0							SO:0001583	missense			ENST00000563630.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	.	11.10	1.539123	0.27475	.	.	ENSG00000167962	ENST00000431526	T	0.17854	2.25	4.77	2.83	0.33086	.	0.412070	0.28322	N	0.015774	T	0.11196	0.0273	L	0.28458	0.855	0.24512	N	0.994204	B;B	0.12013	0.005;0.003	B;B	0.14578	0.011;0.004	T	0.31308	-0.9948	10	0.17832	T	0.49	-19.0865	9.7555	0.40500	0.0:0.8338:0.0:0.1662	.	822;814	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	T	822	ENSP00000411409:A822T	ENSP00000411409:A822T	A	-	1	0	ZNF598	1988485	0.466000	0.25823	0.920000	0.36463	0.778000	0.44026	1.064000	0.30579	0.625000	0.30304	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	1	0	0	67	230	0	58	1	1	23	69	0	58	2		0	0	0	0	0	2	1	1	67	227	0	57	2								-4.038574	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF598	90850	broad.mit.edu	37	16	2048485	2048485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048485C>T	ENST00000563630.1	-	12	2540	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	ZNF598_ENST00000562103.1_Silent_p.T766T|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.T821T			Q86UK7	ZN598_HUMAN	zinc finger protein 598			16					GCTGCTTGGCCGTGTCGGGCA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000563630.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	1	0	0	65	230	0	58	1	1	29	70	0	58	2		0	0	0	0	0	2	1	1	64	228	0	57	2								-20.000000	1	1	120728	16	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF598	90850	broad.mit.edu	37	16	2049591	2049591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2049591G>A	ENST00000563630.1	-	9	2036	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	ZNF598_ENST00000562103.1_Silent_p.L598L|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.L653L			Q86UK7	ZN598_HUMAN	zinc finger protein 598			16					GGGGCCTTGGGAGCCCAGGGG	0.731000																								0							SO:0001819	synonymous_variant			ENST00000563630.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	1	0	0	30	129	0	38	1	9.990345e-01	13	37	0	38	2		0	0	0	0	0	2	1	1	30	127	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ACSM2B	348158	broad.mit.edu	37	16	20559396	20559396	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20559396G>T	ENST00000329697.6	-	8	1254	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.G283G|ACSM2B_ENST00000565232.1_Silent_p.G362G|ACSM2B_ENST00000567001.1_Silent_p.G362G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B			57					TTTCTGTCTGGCCATAGAATT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000329697.6	1	1	hg19	CCDS10586.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	1	0	1	188	1036	0	267		0	0	0	0	267	2		0	0	0	0	0	2	1	1	183	1008	0	268	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSM2B	348158	broad.mit.edu	37	16	20570669	20570669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20570669G>A	ENST00000329697.6	-	3	446	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B			57					GATGTTGGCTGCCTGCTGGCT	0.602000																								0							SO:0001583	missense			ENST00000329697.6	0	1	hg19	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022450	0.08006	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.37411	1.2;1.2	3.51	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.16342	0.0393	N	0.17082	0.46	0.22639	N	0.998907	B;B	0.34290	0.447;0.447	B;B	0.26202	0.067;0.067	T	0.13150	-1.0520	10	0.02654	T	1	-0.3522	9.68	0.40065	0.1073:0.0:0.8927:0.0	.	93;93	A8K051;Q68CK6	.;ACS2B_HUMAN	V	93	ENSP00000327453:A93V;ENSP00000390378:A93V	ENSP00000327453:A93V	A	-	2	0	ACSM2B	20478170	0.000000	0.05858	0.040000	0.18447	0.013000	0.08279	0.468000	0.22051	0.685000	0.31468	-0.192000	0.12808	GCA		TCGA-IB-7651-01A-11D-2154-08	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	0	0	0	25	94	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999994e-01	21	78	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ACSM1	116285	broad.mit.edu	37	16	20681260	20681260	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681260C>T	ENST00000307493.4	-	5	868	c.801G>A	c.(799-801)tcG>tcA	p.S267S	ACSM1_ENST00000520010.1_Silent_p.S267S|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	p.S267S(1)		42					ATCCTGAGTCCGACAGGCACC	0.502000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000307493.4	1	1	hg19	CCDS10587.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	1	0	0	50	225	0	42	1	7.142231e-01	3	10	0	42	2		0	0	0	0	0	2	1	1	49	219	0	41	2								-3.263077	1	0	121410	4	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSM1	116285	broad.mit.edu	37	16	20681265	20681265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681265G>T	ENST00000307493.4	-	5	863	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M|ACSM1_ENST00000219151.4_De_novo_Start_InFrame	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1			42					GAGTCCGACAGGCACCAGGAG	0.507000																								0							SO:0001583	missense			ENST00000307493.4	0	1	hg19	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252155	0.22880	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.44083	0.93;0.93	5.05	-9.56	0.00566	AMP-dependent synthetase/ligase (1);	1.387560	0.05286	N	0.520143	T	0.21550	0.0519	N	0.25789	0.76	0.25753	N	0.985031	B	0.21606	0.058	B	0.21917	0.037	T	0.12400	-1.0549	10	0.23302	T	0.38	.	4.6505	0.12592	0.0689:0.3267:0.2181:0.3862	.	266	Q08AH1	ACSM1_HUMAN	M	266	ENSP00000301956:L266M;ENSP00000428047:L266M	ENSP00000301956:L266M	L	-	1	2	ACSM1	20588766	0.000000	0.05858	0.023000	0.16930	0.376000	0.30014	-2.590000	0.00899	-1.145000	0.02858	0.514000	0.50259	CTG		TCGA-IB-7651-01A-11D-2154-08	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	0	0	0	9	254	0	41	0	5.536506e-02	0	10	0	41	2		0	0	0	0	0	2	1	9.938235e-01	9	248	0	40	2								-10.453610	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.460000	0.210000	1.000000	0.400000	0.542088	0.460000	0	3.100000e-01	1
ACSM3	6296	broad.mit.edu	37	16	20787326	20787326	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20787326A>G	ENST00000289416.5	+	3	860	c.385A>G	c.(385-387)Agg>Ggg	p.R129G	ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G|ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3			21					GATTCTGCCCAGGGTCCCAGA	0.448000																								0							SO:0001583	missense			ENST00000289416.5	1	1	hg19	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895802	0.72639	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.52526	0.66;0.66;0.66	5.81	2.05	0.26809	AMP-dependent synthetase/ligase (1);	0.303746	0.33732	N	0.004619	T	0.65101	0.2659	M	0.89353	3.025	0.34674	D	0.724058	P;D;D	0.63880	0.675;0.99;0.993	P;P;P	0.60117	0.672;0.869;0.864	T	0.75519	-0.3289	10	0.72032	D	0.01	-10.5388	8.1248	0.30992	0.3688:0.5437:0.0876:0.0	.	84;129;129	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	G	129;129;84	ENSP00000289416:R129G;ENSP00000394565:R129G;ENSP00000395297:R84G	ENSP00000289416:R129G	R	+	1	2	ACSM3	20694827	0.843000	0.29541	1.000000	0.80357	0.869000	0.49853	0.962000	0.29280	1.004000	0.39156	0.383000	0.25322	AGG		TCGA-IB-7651-01A-11D-2154-08	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	1	0	1	84	326	0	90	1	9.849805e-01	12	16	0	90	2		0	0	0	0	0	2	1	1	84	315	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCUN1D3	123879	broad.mit.edu	37	16	20871273	20871273	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20871273C>T	ENST00000324344.4	-	3	1135	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3			14					CCTTCCCCTTCTCTTTTCCTT	0.567000																								0							SO:0001583	missense			ENST00000324344.4	1	1	hg19	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153360	0.57259	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	.	0.134496	0.64402	D	0.000003	T	0.51736	0.1692	L	0.34521	1.04	0.53688	D	0.999974	B	0.02656	0.0	B	0.04013	0.001	T	0.51196	-0.8736	9	0.06494	T	0.89	-27.7325	20.6634	0.99662	0.0:1.0:0.0:0.0	.	284	Q8IWE4	DCNL3_HUMAN	K	284	.	ENSP00000319482:E284K	E	-	1	0	DCUN1D3	20778774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.324000	0.65863	2.894000	0.99253	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	0	0	1	23	191	0	33	1	9.172500e-01	9	29	0	33	2		0	0	0	0	0	2	1	9.999993e-01	23	183	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.860000	1.000000	1.000000	0.991804	0.990000	1	9.900000e-01	1
SLC9A3R2	9351	broad.mit.edu	37	16	2087936	2087936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2087936C>T	ENST00000424542.2	+	7	1103	c.965C>T	c.(964-966)gCg>gTg	p.A322V	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2			2					AACAAGCGCGCGCCACAGATG	0.642000													Ovarian(69;105 1552 17724 23473)											0							SO:0001583	missense			ENST00000424542.2	1	1	hg19	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870517	0.72065	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.55760	0.5;1.09	5.09	5.09	0.68999	EBP50, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.949;0.994	T	0.71968	-0.4432	10	0.59425	D	0.04	-11.734	17.4642	0.87628	0.0:1.0:0.0:0.0	.	357;311;322	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	V	322;311	ENSP00000408005:A322V;ENSP00000402857:A311V	ENSP00000408005:A322V	A	+	2	0	SLC9A3R2	2027937	1.000000	0.71417	0.939000	0.37840	0.365000	0.29674	7.125000	0.77193	2.377000	0.81083	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1	1	0	1	17	94	0	32	1	1	53	262	0	32	2		0	0	0	0	0	2	1	9.999751e-01	17	92	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999389	0.990000	1	9.900000e-01	1
DNAH3	55567	broad.mit.edu	37	16	20959914	20959914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20959914C>T	ENST00000261383.3	-	57	11233	c.11234G>A	c.(11233-11235)cGt>cAt	p.R3745H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					CAGCAGGAGACGCCGGTCTTT	0.517000																								0							SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.103288	0.94245	.	.	ENSG00000158486	ENST00000261383	T	0.12984	2.63	5.9	4.94	0.65067	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68884	-0.5291	10	0.72032	D	0.01	.	16.4922	0.84205	0.1321:0.8679:0.0:0.0	.	3745	Q8TD57	DYH3_HUMAN	H	3745	ENSP00000261383:R3745H	ENSP00000261383:R3745H	R	-	2	0	DNAH3	20867415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.482000	0.48325	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1	39	146	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	39	146	0	42	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH3	55567	broad.mit.edu	37	16	20966215	20966215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20966215G>A	ENST00000261383.3	-	55	10990	c.10991C>T	c.(10990-10992)gCg>gTg	p.A3664V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					CCACATCACCGCCTTTGCACA	0.527000																								0							SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828909	0.16749	.	.	ENSG00000158486	ENST00000261383	T	0.08720	3.06	5.43	2.3	0.28687	Dynein heavy chain (1);	0.362903	0.27236	N	0.020283	T	0.02848	0.0085	N	0.02192	-0.645	0.09310	N	1	B	0.30439	0.279	B	0.27887	0.084	T	0.43925	-0.9361	10	0.30078	T	0.28	.	6.8303	0.23907	0.0693:0.1285:0.6688:0.1335	.	3664	Q8TD57	DYH3_HUMAN	V	3664	ENSP00000261383:A3664V	ENSP00000261383:A3664V	A	-	2	0	DNAH3	20873716	0.008000	0.16893	0.010000	0.14722	0.242000	0.25591	1.261000	0.32980	0.229000	0.21039	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1	160	573	0	137	0	0	1	0	0	137	2		0	0	0	0	0	2	1	1	160	559	0	135	2								-20.000000	1	1	121412	5	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH3	55567	broad.mit.edu	37	16	20974849	20974849	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20974849C>A	ENST00000261383.3	-	53	10356	c.10357G>T	c.(10357-10359)Gcc>Tcc	p.A3453S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					TGGGGCCAGGCCGAGTCATAG	0.527000																								0							SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.031049	0.02029	.	.	ENSG00000158486	ENST00000261383	T	0.08102	3.13	5.39	2.25	0.28309	Dynein heavy chain (1);	0.299368	0.30575	N	0.009337	T	0.02970	0.0088	N	0.04297	-0.235	0.21020	N	0.99981	B	0.11235	0.004	B	0.20384	0.029	T	0.46762	-0.9168	10	0.09338	T	0.73	.	5.3477	0.16018	0.2812:0.5656:0.0:0.1533	.	3453	Q8TD57	DYH3_HUMAN	S	3453	ENSP00000261383:A3453S	ENSP00000261383:A3453S	A	-	1	0	DNAH3	20882350	0.987000	0.35691	0.761000	0.31378	0.782000	0.44232	2.256000	0.43231	0.210000	0.20664	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	0	1	65	215	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	63	212	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH3	55567	broad.mit.edu	37	16	20975154	20975154	+	Missense_Mutation	SNP	T	T	C	rs143271654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975154T>C	ENST00000261383.3	-	53	10051	c.10052A>G	c.(10051-10053)gAc>gGc	p.D3351G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					GGTGAAATGGTCAATGATGTA	0.473000																								0							SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	7.842	0.722045	0.15372	.	.	ENSG00000158486	ENST00000261383	T	0.61980	0.06	5.78	5.78	0.91487	.	0.343223	0.30401	N	0.009716	T	0.66396	0.2785	M	0.87328	2.875	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.67741	-0.5592	10	0.72032	D	0.01	.	10.4542	0.44539	0.0:0.0724:0.0:0.9276	.	3351	Q8TD57	DYH3_HUMAN	G	3351	ENSP00000261383:D3351G	ENSP00000261383:D3351G	D	-	2	0	DNAH3	20882655	0.878000	0.30173	0.693000	0.30195	0.054000	0.15201	2.893000	0.48633	2.207000	0.71202	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1	114	482	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	114	471	0	95	2								-20.000000	1	1	121412	2	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH3	55567	broad.mit.edu	37	16	20975642	20975642	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975642C>A	ENST00000261383.3	-	53	9563	c.9564G>T	c.(9562-9564)aaG>aaT	p.K3188N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					GGAGACAGACCTTCACGGCAA	0.473000																								0							SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858220	0.51376	.	.	ENSG00000158486	ENST00000261383	T	0.22743	1.94	6.03	-0.0983	0.13629	.	0.112712	0.64402	D	0.000012	T	0.55386	0.1917	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64605	-0.6368	10	0.87932	D	0	.	10.7353	0.46122	0.0:0.3047:0.0:0.6953	.	3188	Q8TD57	DYH3_HUMAN	N	3188	ENSP00000261383:K3188N	ENSP00000261383:K3188N	K	-	3	2	DNAH3	20883143	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.073000	0.30691	-0.046000	0.13446	-0.294000	0.09567	AAG		TCGA-IB-7651-01A-11D-2154-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1	123	388	0	94	0	5.878293e-02	0	2	0	94	2		0	0	0	0	0	2	1	1	122	380	0	94	2								-5.097442	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH3	55567	broad.mit.edu	37	16	20976326	20976326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20976326G>T	ENST00000261383.3	-	53	8879	c.8880C>A	c.(8878-8880)tgC>tgA	p.C2960*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					GCTTTTGGGAGCAGATTTCAA	0.517000																								0							SO:0001587	stop_gained			ENST00000261383.3	0	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	46	12.098613	0.99636	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.93	-0.998	0.10212	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9877	0.47530	0.4789:0.0:0.5211:0.0	.	.	.	.	X	2960	.	ENSP00000261383:C2960X	C	-	3	2	DNAH3	20883827	0.989000	0.36119	0.892000	0.35008	0.016000	0.09150	0.209000	0.17435	-0.384000	0.07845	-0.136000	0.14681	TGC		TCGA-IB-7651-01A-11D-2154-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	0	1	170	695	1	146		0	0	0	1	146	2		0	0	0	0	0	2	1	1	167	683	1	145	20								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH3	55567	broad.mit.edu	37	16	21049222	21049222	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21049222C>T	ENST00000261383.3	-	34	4810	c.4811G>A	c.(4810-4812)cGc>cAc	p.R1604H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					CTTGACAGCGCGCATACCGTA	0.522000																								0							SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393775	0.96009	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.67865	-0.29;-0.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93649	0.6971	10	0.87932	D	0	.	19.9616	0.97254	0.0:1.0:0.0:0.0	.	1604	Q8TD57	DYH3_HUMAN	H	1604	ENSP00000261383:R1604H;ENSP00000394245:R1604H	ENSP00000261383:R1604H	R	-	2	0	DNAH3	20956723	1.000000	0.71417	0.986000	0.45419	0.814000	0.46013	7.764000	0.85297	2.724000	0.93272	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1	45	167	0	35	1	4.622156e-01	2	5	0	35	2		0	0	0	0	0	2	1	1	45	165	0	35	2								-3.737306	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH3	55567	broad.mit.edu	37	16	21098312	21098312	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21098312T>G	ENST00000261383.3	-	19	2734	c.2735A>C	c.(2734-2736)aAa>aCa	p.K912T	DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3			202					CTTGATCAGTTTATACGTTGT	0.463000																								0							SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255099	0.59321	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63417	-0.04;-0.04	5.58	5.58	0.84498	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84403	0.0561	10	0.66056	D	0.02	.	15.7487	0.77967	0.0:0.0:0.0:1.0	.	912	Q8TD57	DYH3_HUMAN	T	912	ENSP00000261383:K912T;ENSP00000394245:K912T	ENSP00000261383:K912T	K	-	2	0	DNAH3	21005813	1.000000	0.71417	0.582000	0.28627	0.133000	0.20885	7.576000	0.82467	2.126000	0.65437	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1	161	690	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	1	160	680	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC2	7249	broad.mit.edu	37	16	2112582	2112582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2112582C>T	ENST00000219476.3	+	13	1972	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	TSC2_ENST00000353929.4_Silent_p.L448L|TSC2_ENST00000439673.2_Silent_p.L411L|TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000568454.1_Silent_p.L459L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			CCTGCAGGCGCTGATGGAGAG	0.612000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0							SO:0001819	synonymous_variant	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	0	1	hg19	CCDS10458.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1	12	59	0	15	1	9.986261e-01	11	51	0	15	2		0	0	0	0	0	2	1	9.993999e-01	12	59	0	15	2								-19.994540	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.998856	0.990000	1	9.900000e-01	1
TMEM159	57146	broad.mit.edu	37	16	21181905	21181905	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21181905C>A	ENST00000233047.4	+	3	712	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572258.1_Missense_Mutation_p.L82M|TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M			Q96B96	TM159_HUMAN	transmembrane protein 159			6					GGCTGCTCTGCTGGGGGTCAT	0.458000																								0							SO:0001583	missense			ENST00000233047.4	1	1	hg19	CCDS10595.1	.	.	.	.	.	.	.	.	.	.	C	5.328	0.245831	0.10077	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.18810	2.19;2.19;2.19	5.48	0.112	0.14623	.	0.453294	0.21551	N	0.072728	T	0.07954	0.0199	N	0.11255	0.115	0.25155	N	0.990391	B;B	0.22003	0.053;0.063	B;B	0.20955	0.032;0.013	T	0.19031	-1.0318	10	0.36615	T	0.2	-4.6191	1.3316	0.02136	0.2386:0.2792:0.3437:0.1385	.	106;82	B4DEC1;Q96B96	.;TM159_HUMAN	M	82;82;106	ENSP00000233047:L82M;ENSP00000261388:L82M;ENSP00000409879:L106M	ENSP00000233047:L82M	L	+	1	2	TMEM159	21089406	0.966000	0.33281	0.822000	0.32727	0.061000	0.15899	0.354000	0.20146	0.026000	0.15269	-0.147000	0.13772	CTG		TCGA-IB-7651-01A-11D-2154-08	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	1	0	1	135	457	1	74	1	1	51	124	1	74	10		0	0	0	0	0	2	1	1	131	447	1	74	24								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC2	7249	broad.mit.edu	37	16	2120560	2120560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2120560C>T	ENST00000219476.3	+	17	2450	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	TSC2_ENST00000353929.4_Missense_Mutation_p.A607V|TSC2_ENST00000439673.2_Missense_Mutation_p.A570V|TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000568454.1_Missense_Mutation_p.A618V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			CTGCCAATCGCGAGCAGCATC	0.622000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0		GRCh37	CM090848	TSC2	M		SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	1	1	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770716	0.69992	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.51	5.51	0.81932	Tuberin-type domain (1);Armadillo-type fold (1);	0.052861	0.85682	D	0.000000	D	0.89022	0.6597	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.988;0.936;0.981;0.98;0.999;0.995	D	0.86560	0.1840	10	0.27785	T	0.31	-33.4261	19.4153	0.94694	0.0:1.0:0.0:0.0	.	558;570;607;607;607;607	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	V	607;607;607;570;558;607	ENSP00000219476:A607V;ENSP00000384468:A607V;ENSP00000248099:A607V;ENSP00000399232:A570V;ENSP00000371978:A558V;ENSP00000344383:A607V	ENSP00000219476:A607V	A	+	2	0	TSC2	2060561	1.000000	0.71417	0.998000	0.56505	0.610000	0.37248	5.946000	0.70234	2.595000	0.87683	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1	70	286	0	59	1	9.999854e-01	15	54	0	59	2		0	0	0	0	0	2	1	1	70	284	0	59	2								-20.000000	1	1	121380	6	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC2	7249	broad.mit.edu	37	16	2124212	2124212	+	Silent	SNP	C	C	A	rs137854061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2124212C>A	ENST00000219476.3	+	22	2997	c.2367C>A	c.(2365-2367)gtC>gtA	p.V789V	TSC2_ENST00000353929.4_Silent_p.V789V|TSC2_ENST00000439673.2_Silent_p.V752V|TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000568454.1_Silent_p.V800V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			GCGAGATGGTCTACTGCCTGG	0.652000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0							SO:0001819	synonymous_variant	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	1	1	hg19	CCDS10458.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1	41	197	0	42	1	9.993073e-01	13	43	0	42	2		0	0	0	0	0	2	1	1	40	195	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKS4B	257629	broad.mit.edu	37	16	21261844	21261844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21261844G>T	ENST00000311620.5	+	2	1030	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B			20					CTGATGAAGAGGGAGAGGAAA	0.507000																								0							SO:0001583	missense			ENST00000311620.5	1	1	hg19	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058951	0.01950	.	.	ENSG00000175311	ENST00000311620	T	0.41065	1.01	5.87	0.135	0.14775	.	0.583457	0.18380	N	0.142989	T	0.30386	0.0763	L	0.60455	1.87	0.32789	N	0.501461	B	0.15930	0.015	B	0.14578	0.011	T	0.31420	-0.9944	10	0.12430	T	0.62	-7.3885	5.6077	0.17389	0.3447:0.2906:0.3646:0.0	.	319	Q8N8V4	ANS4B_HUMAN	D	319	ENSP00000308772:E319D	ENSP00000308772:E319D	E	+	3	2	ANKS4B	21169345	0.000000	0.05858	0.282000	0.24776	0.009000	0.06853	-0.491000	0.06474	0.053000	0.16036	-0.283000	0.09986	GAG		TCGA-IB-7651-01A-11D-2154-08	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	1	0	1	40	197	0	47	1	9.996778e-01	33	30	0	47	2		0	0	0	0	0	2	1	1	38	193	0	47	2								-2.978203	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC2	7249	broad.mit.edu	37	16	2129279	2129279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2129279C>T	ENST00000219476.3	+	28	3764	c.3134C>T	c.(3133-3135)tCt>tTt	p.S1045F	TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F|TSC2_ENST00000439673.2_Missense_Mutation_p.S965F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F|TSC2_ENST00000568366.1_3'UTR	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			TCTTCTAGGTCTCCTGTGGGC	0.647000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0							SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	1	1	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695163	0.68386	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.91996	-2.87;-2.88;-2.95;-2.93;-2.84	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95535	0.8549	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.996	D;D;D;D;D;D	0.91635	0.986;0.999;0.994;0.999;0.988;0.982	D	0.94960	0.8107	10	0.40728	T	0.16	-24.1477	18.0348	0.89296	0.0:1.0:0.0:0.0	.	953;965;1045;1001;1001;1045	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	F	1045;1002;1002;965;953;1045	ENSP00000219476:S1045F;ENSP00000248099:S1002F;ENSP00000399232:S965F;ENSP00000371978:S953F;ENSP00000344383:S1045F	ENSP00000219476:S1045F	S	+	2	0	TSC2	2069280	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	5.798000	0.69095	2.339000	0.79563	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1	88	363	0	78	1	1	32	106	0	78	2		0	0	0	0	0	2	1	1	85	356	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC2	7249	broad.mit.edu	37	16	2130198	2130198	+	Missense_Mutation	SNP	G	G	A	rs45517294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130198G>A	ENST00000219476.3	+	30	4060	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	TSC2_ENST00000353929.4_Missense_Mutation_p.V1101M|TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M|TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M|TSC2_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000568454.1_Missense_Mutation_p.V1111M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			CGCCCTGGACGTGCCGGCCTC	0.622000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0		GRCh37	CM983889	TSC2	M	rs45517294	SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	0	1	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788889	0.31685	2.27E-4	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.89050	-2.38;-2.37;-2.46;-2.41;-2.38	4.74	-9.47	0.00594	.	1.939910	0.02201	N	0.062319	T	0.74989	0.3789	N	0.08118	0	0.09310	N	1	B;B;P;B;B;P	0.43024	0.029;0.049;0.485;0.049;0.086;0.798	B;B;B;B;B;B	0.38803	0.008;0.018;0.282;0.018;0.013;0.089	T	0.75150	-0.3419	10	0.48119	T	0.1	0.0994	10.1082	0.42546	0.6815:0.172:0.1466:0.0	.	1052;1064;1144;1100;1100;1144	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	M	1144;1101;1101;1064;1052;1144	ENSP00000219476:V1144M;ENSP00000248099:V1101M;ENSP00000399232:V1064M;ENSP00000371978:V1052M;ENSP00000344383:V1144M	ENSP00000219476:V1144M	V	+	1	0	TSC2	2070199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.054000	0.11826	-2.326000	0.00637	-1.186000	0.01703	GTG		TCGA-IB-7651-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	0	0	0	17	1082	0	170	0	2.043105e-01	0	51	0	170	2		0	0	0	0	0	2	1	9.999597e-01	16	1069	0	168	2								-3.143343	1	1	121358	27	49	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.190000	0.110000	1.000000	0.180000	0.335652	0.190000	0	1.400000e-01	1
TSC2	7249	broad.mit.edu	37	16	2130329	2130329	+	Silent	SNP	G	G	A	rs137854121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130329G>A	ENST00000219476.3	+	30	4191	c.3561G>A	c.(3559-3561)gtG>gtA	p.V1187V	TSC2_ENST00000353929.4_Silent_p.V1144V|TSC2_ENST00000439673.2_Silent_p.V1107V|TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000568454.1_Silent_p.V1154V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			CGGCCTATGTGCCCCTGCTGA	0.662000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0							SO:0001819	synonymous_variant	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	1	1	hg19	CCDS10458.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1	103	452	0	98	1	9.999970e-01	27	54	0	98	2		0	0	0	0	0	2	1	1	100	442	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC2	7249	broad.mit.edu	37	16	2134252	2134252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2134252G>T	ENST00000219476.3	+	34	4659	c.4029G>T	c.(4027-4029)gaG>gaT	p.E1343D	TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D|TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D|TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			CCAGCCAGGAGGAGAAGTCGC	0.647000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0							SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	1	1	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	4.947	0.175842	0.09443	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.90261	-2.46;-2.56;-2.48;-2.64;-2.6;-2.57	4.86	-0.0207	0.13955	.	0.262292	0.36665	N	0.002468	T	0.75939	0.3918	N	0.12746	0.255	0.34610	D	0.717498	B;B;B;B;B;B;B	0.23735	0.004;0.008;0.008;0.09;0.008;0.008;0.003	B;B;B;B;B;B;B	0.22386	0.008;0.019;0.019;0.039;0.019;0.019;0.004	T	0.64529	-0.6386	10	0.15499	T	0.54	-29.8903	6.3064	0.21141	0.3882:0.0:0.4925:0.1193	.	1228;1240;1320;118;1299;1276;1343	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	D	1343;1277;1300;1240;1228;1320	ENSP00000219476:E1343D;ENSP00000384468:E1277D;ENSP00000248099:E1300D;ENSP00000399232:E1240D;ENSP00000371978:E1228D;ENSP00000344383:E1320D	ENSP00000219476:E1343D	E	+	3	2	TSC2	2074253	0.924000	0.31332	0.999000	0.59377	0.684000	0.39900	0.003000	0.13083	0.122000	0.18314	-0.221000	0.12465	GAG		TCGA-IB-7651-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	0	25	64	0	10	1	1	30	71	0	10	2		0	0	0	0	0	2	1	9.999999e-01	25	60	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC2	7249	broad.mit.edu	37	16	2136299	2136299	+	Missense_Mutation	SNP	G	G	A	rs137854039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2136299G>A	ENST00000219476.3	+	37	5398	c.4768G>A	c.(4768-4770)Gac>Aac	p.D1590N	TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N|TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N|TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			CTGCCAGCCGGACAAGGTGTA	0.627000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0							SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	1	1	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851442	0.71719	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	4.47	3.51	0.40186	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.91858	0.7423	N	0.04959	-0.14	0.80722	D	1	D;D;D;B;D;D;D	0.89917	0.999;0.999;0.998;0.213;0.998;0.998;1.0	D;D;D;B;D;D;D	0.87578	0.998;0.996;0.997;0.345;0.997;0.997;0.998	D	0.88000	0.2755	10	0.11794	T	0.64	-24.0776	13.8775	0.63662	0.0:0.0:0.8464:0.1536	.	1475;1487;1567;365;1546;1523;1590	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	N	1590;1524;1547;1487;1475;1567	ENSP00000219476:D1590N;ENSP00000248099:D1547N;ENSP00000399232:D1487N;ENSP00000371978:D1475N;ENSP00000344383:D1567N	ENSP00000219476:D1590N	D	+	1	0	TSC2	2076300	1.000000	0.71417	0.819000	0.32651	0.706000	0.40770	7.741000	0.84997	1.077000	0.40990	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1	60	222	0	44	1	1	33	85	0	44	2		0	0	0	0	0	2	1	1	60	218	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2143020	2143020	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2143020G>A	ENST00000262304.4	-	38	11299	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	RP11-304L19.3_ENST00000565937.1_RNA|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					GACGGTAGGCGTGCCCATGGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000262304.4	1	1	hg19	CCDS32369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0	0	0	33	849	1	142	0	4.443229e-01	1	88	1	142	4		0	0	0	0	0	2	1	9.589796e-01	33	835	1	141	21								-4.078068	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.470000	0.310000	1.000000	0.450000	0.553618	0.470000	0	3.800000e-01	1
PKD1	5310	broad.mit.edu	37	16	2147772	2147772	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147772C>T	ENST00000262304.4	-	32	10385	c.10177G>A	c.(10177-10179)Gtt>Att	p.V3393I	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					ATCTGTCCAACAAAGGCCTGC	0.587000																								0							SO:0001583	missense			ENST00000262304.4	1	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	7.242	0.601532	0.13939	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34275	1.37;1.4	4.44	-1.98	0.07480	.	0.805808	0.11217	N	0.587105	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	P;B	0.35226	0.491;0.128	B;B	0.27076	0.076;0.05	T	0.16541	-1.0399	10	0.34782	T	0.22	.	6.1194	0.20144	0.5948:0.2285:0.0:0.1767	.	3392;3393	P98161-3;P98161	.;PKD1_HUMAN	I	3393;3392;2727	ENSP00000262304:V3393I;ENSP00000399501:V3392I	ENSP00000262304:V3393I	V	-	1	0	PKD1	2087773	0.134000	0.22483	0.047000	0.18901	0.004000	0.04260	0.088000	0.14979	-0.109000	0.12044	-0.300000	0.09419	GTT		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1	176	816	0	202	1	9.998253e-01	6	53	0	202	2		0	0	0	0	0	2	1	1	157	744	0	201	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2147955	2147955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147955C>T	ENST00000262304.4	-	31	10289	c.10081G>A	c.(10081-10083)Ggg>Agg	p.G3361R	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G3361R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					ACCTGCTGCCCGGCAGGTGTG	0.657000																								0							SO:0001583	missense			ENST00000262304.4	0	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159263	0.38119	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34472	1.36;1.36	4.29	2.28	0.28536	.	0.251232	0.37955	N	0.001866	T	0.32133	0.0819	M	0.62723	1.935	0.23411	N	0.997732	P;P	0.47841	0.901;0.748	B;B	0.39217	0.294;0.106	T	0.21655	-1.0239	10	0.21014	T	0.42	.	13.3637	0.60671	0.0:0.8516:0.0:0.1484	.	3361;3361	P98161-3;P98161	.;PKD1_HUMAN	R	3361;3361;2696	ENSP00000262304:G3361R;ENSP00000399501:G3361R	ENSP00000262304:G3361R	G	-	1	0	PKD1	2087956	0.768000	0.28519	0.002000	0.10522	0.017000	0.09413	1.389000	0.34453	0.112000	0.17975	-1.164000	0.01763	GGG		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0	29	99	0	14	1	9.991899e-01	5	37	0	14	2		0	0	0	0	0	2	1	9.999996e-01	21	69	0	16	2								-3.908981	1	1	118592	14	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2153410	2153410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153410G>T	ENST00000262304.4	-	23	8856	c.8648C>A	c.(8647-8649)gCt>gAt	p.A2883D	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					GCCCCGGGCAGCCCAGTCCGA	0.682000																								0							SO:0001583	missense			ENST00000262304.4	1	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063084	0.55432	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36520	1.25;1.25	4.65	2.58	0.30949	.	0.440473	0.23298	N	0.049704	T	0.33760	0.0874	M	0.65975	2.015	0.09310	N	1	B;P	0.48911	0.013;0.917	B;P	0.46850	0.014;0.529	T	0.13602	-1.0503	10	0.10902	T	0.67	.	5.5778	0.17233	0.1112:0.2203:0.6685:0.0	.	2883;2883	P98161-3;P98161	.;PKD1_HUMAN	D	2883;2883;2218	ENSP00000262304:A2883D;ENSP00000399501:A2883D	ENSP00000262304:A2883D	A	-	2	0	PKD1	2093411	0.000000	0.05858	0.124000	0.21820	0.088000	0.18126	0.548000	0.23314	1.183000	0.42943	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0	175	687	0	135	1	9.978013e-01	10	28	0	135	2		0	0	0	0	0	2	1	1	144	569	0	140	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2153863	2153863	+	Missense_Mutation	SNP	C	C	T	rs78185588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153863C>T	ENST00000262304.4	-	23	8403	c.8195G>A	c.(8194-8196)cGg>cAg	p.R2732Q	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					CTGTGGTGCCCGCACGTCCGA	0.642000																								0							SO:0001583	missense			ENST00000262304.4	1	1	hg19	CCDS32369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.137	0.393575	0.11638	0.0	2.34E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.32272	1.46;1.46	4.41	1.91	0.25777	Egg jelly receptor, REJ-like (1);	0.372642	0.27650	N	0.018440	T	0.04815	0.0130	N	0.00162	-1.95	0.09310	N	1	B;B	0.15719	0.011;0.014	B;B	0.04013	0.001;0.001	T	0.37888	-0.9686	10	0.06757	T	0.87	.	4.7784	0.13190	0.0:0.1667:0.3067:0.5266	.	2732;2732	P98161-3;P98161	.;PKD1_HUMAN	Q	2732;2732;2067;1011	ENSP00000262304:R2732Q;ENSP00000399501:R2732Q	ENSP00000262304:R2732Q	R	-	2	0	PKD1	2093864	0.323000	0.24643	0.022000	0.16811	0.001000	0.01503	0.449000	0.21744	0.211000	0.20683	-0.678000	0.03780	CGG		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0	23	97	0	26	1	9.975001e-01	5	39	0	26	2		0	0	0	0	0	2	1	9.999997e-01	23	95	0	26	2								-20.000000	1	1	119946	10	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					CCCCGCACGCGCCGCTTCACC	0.647000																								0							SO:0001583	missense			ENST00000262304.4	1	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.168603	0.38315	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.67698	-0.28;-0.28	5.36	3.38	0.38709	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.126247	0.53938	D	0.000057	T	0.78162	0.4240	M	0.69823	2.125	0.35442	D	0.794935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.943	T	0.82657	-0.0349	10	0.62326	D	0.03	.	10.3323	0.43829	0.0706:0.0:0.794:0.1353	.	1547;1547	P98161-3;P98161	.;PKD1_HUMAN	C	1547	ENSP00000262304:R1547C;ENSP00000399501:R1547C	ENSP00000262304:R1547C	R	-	1	0	PKD1	2100530	0.998000	0.40836	0.049000	0.19019	0.014000	0.08584	3.743000	0.55104	0.632000	0.30432	0.550000	0.68814	CGC		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1	123	465	0	83	1	9.967551e-01	8	27	0	83	2		0	0	0	0	0	2	1	1	122	459	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2161761	2161761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161761C>T	ENST00000262304.4	-	15	3615	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					CACCAGGACGCCGTCACTCAC	0.682000																								0							SO:0001583	missense			ENST00000262304.4	1	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	8.145	0.786085	0.16189	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.67345	-0.26;-0.26	5.66	-5.54	0.02544	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	1.816110	0.02356	N	0.076399	T	0.39682	0.1087	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15052	0.004;0.012	T	0.35773	-0.9775	10	0.12103	T	0.63	.	8.7888	0.34837	0.0:0.1369:0.4152:0.4479	.	1136;1136	P98161-3;P98161	.;PKD1_HUMAN	D	1136;1136;851	ENSP00000262304:G1136D;ENSP00000399501:G1136D	ENSP00000262304:G1136D	G	-	2	0	PKD1	2101762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.391000	0.02525	-1.110000	0.02992	-0.147000	0.13772	GGC		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0	19	77	0	16	1	9.673265e-01	6	20	0	16	2		0	0	0	0	0	2	1	9.999947e-01	18	76	0	16	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2161784	2161784	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161784G>A	ENST00000262304.4	-	15	3592	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.S1128S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					CCACAGCCACGGAGGGCAGGG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000262304.4	1	1	hg19	CCDS32369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1	27	88	0	25	1	9.722803e-01	4	18	0	25	2		0	0	0	0	0	2	1	1	26	88	0	25	2								-20.000000	1	0	120270	5	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2164407	2164407	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164407C>G	ENST00000262304.4	-	11	2825	c.2617G>C	c.(2617-2619)Gtc>Ctc	p.V873L	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V873L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					GCAGGGCAGACATTCTCAAAG	0.667000																								0							SO:0001583	missense			ENST00000262304.4	1	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	5.489	0.275161	0.10403	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.33865	1.39;1.39	4.96	-7.17	0.01511	Polycystin cation channel (1);	0.538685	0.18726	N	0.132895	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.008;0.01	B;B	0.04013	0.001;0.001	T	0.06180	-1.0841	10	0.39692	T	0.17	.	4.6711	0.12689	0.1067:0.2556:0.0826:0.5551	.	873;873	P98161-3;P98161	.;PKD1_HUMAN	L	873	ENSP00000262304:V873L;ENSP00000399501:V873L	ENSP00000262304:V873L	V	-	1	0	PKD1	2104408	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-3.652000	0.00403	-0.952000	0.03649	-0.476000	0.04901	GTC		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	1	39	141	0	21	1	9.677859e-01	5	18	0	21	2		0	0	0	0	0	2	1	1	35	133	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2164529	2164529	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164529C>T	ENST00000262304.4	-	11	2703	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R832H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					GCGGCCGTCGCGGGGGGCAGG	0.692000																								0							SO:0001583	missense			ENST00000262304.4	1	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	t	0.094	-1.162638	0.01673	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.34472	1.36;1.36	5.39	1.4	0.22301	Polycystin cation channel (1);	0.707453	0.14522	N	0.314417	T	0.08492	0.0211	N	0.00347	-1.61	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.35822	-0.9773	10	0.17369	T	0.5	.	6.2873	0.21041	0.37:0.074:0.0:0.556	.	832;832	P98161-3;P98161	.;PKD1_HUMAN	H	832	ENSP00000262304:R832H;ENSP00000399501:R832H	ENSP00000262304:R832H	R	-	2	0	PKD1	2104530	0.010000	0.17322	0.001000	0.08648	0.003000	0.03518	0.918000	0.28678	-0.032000	0.13758	-0.255000	0.11280	CGC		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0	31	110	0	16	1	8.113878e-01	2	11	0	16	2		0	0	0	0	0	2	1	1	28	85	0	18	2								-20.000000	1	1	114232	7	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2168027	2168027	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168027C>T	ENST00000262304.4	-	5	1174	c.966G>A	c.(964-966)tcG>tcA	p.S322S	PKD1_ENST00000423118.1_Silent_p.S322S|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					CATAGCGATGCGAGGCAGCCG	0.701000																								0							SO:0001819	synonymous_variant			ENST00000262304.4	0	1	hg19	CCDS32369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0	0	0	42	109	0	18	0	8.100541e-01	1	9	0	18	2		0	0	0	0	0	2	1	1	21	60	0	23	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1	5310	broad.mit.edu	37	16	2168110	2168110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168110C>T	ENST00000262304.4	-	5	1091	c.883G>A	c.(883-885)Gct>Act	p.A295T	PKD1_ENST00000423118.1_Missense_Mutation_p.A295T|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					AGCGGGGCAGCGATGTGGAAG	0.711000																								0							SO:0001583	missense			ENST00000262304.4	1	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.622001	0.00820	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.60548	0.18;0.18	4.78	1.04	0.20106	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.664574	0.14722	N	0.302282	T	0.25382	0.0617	N	0.02708	-0.52	0.09310	N	1	B;B	0.21309	0.002;0.054	B;B	0.13407	0.001;0.009	T	0.24083	-1.0170	10	0.07990	T	0.79	.	7.8225	0.29296	0.0:0.3811:0.0:0.6189	.	295;295	P98161-3;P98161	.;PKD1_HUMAN	T	295;295;228	ENSP00000262304:A295T;ENSP00000399501:A295T	ENSP00000262304:A295T	A	-	1	0	PKD1	2108111	0.091000	0.21658	0.000000	0.03702	0.464000	0.32679	0.595000	0.24029	-0.086000	0.12550	0.444000	0.29173	GCT		TCGA-IB-7651-01A-11D-2154-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0	30	116	0	16	1	9.311396e-01	2	18	0	16	2		0	0	0	0	0	2	1	9.999998e-01	20	87	0	16	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTOA	146183	broad.mit.edu	37	16	21721387	21721387	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21721387T>C	ENST00000286149.4	+	12	1326	c.1325T>C	c.(1324-1326)gTc>gCc	p.V442A	OTOA_ENST00000388957.3_Missense_Mutation_p.V104A|OTOA_ENST00000388958.3_Missense_Mutation_p.V428A|OTOA_ENST00000388956.4_Missense_Mutation_p.V349A			Q7RTW8	OTOAN_HUMAN	otoancorin			46					AAGAGCCAGGTCATCATCTTG	0.512000																								0							SO:0001583	missense			ENST00000286149.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	9.963	1.223292	0.22457	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.21	1.68	0.24146	.	0.662679	0.14853	N	0.294589	T	0.67571	0.2907	L	0.50333	1.59	0.24453	N	0.994475	B;B;B;B	0.13594	0.008;0.008;0.002;0.008	B;B;B;B	0.15052	0.012;0.012;0.003;0.012	T	0.50890	-0.8774	10	0.19147	T	0.46	-2.4377	8.0775	0.30724	0.0:0.2387:0.0:0.7613	.	442;349;104;428	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	A	428;442;349;104	ENSP00000373610:V428A;ENSP00000286149:V442A;ENSP00000373608:V349A;ENSP00000373609:V104A	ENSP00000286149:V442A	V	+	2	0	OTOA	21628888	0.203000	0.23435	0.684000	0.30055	0.998000	0.95712	0.413000	0.21148	0.004000	0.14682	0.523000	0.50628	GTC		TCGA-IB-7651-01A-11D-2154-08	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1	0	0	0	6	152	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.637871e-01	6	149	0	18	2								-3.711572	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.530000	0.210000	1.000000	0.430000	0.594810	0.530000	0	3.400000e-01	1
OTOA	146183	broad.mit.edu	37	16	21739636	21739636	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21739636C>T	ENST00000286149.4	+	19	2134	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	OTOA_ENST00000388957.3_Silent_p.I373I|OTOA_ENST00000388958.3_Silent_p.I697I|OTOA_ENST00000388956.4_Silent_p.I618I			Q7RTW8	OTOAN_HUMAN	otoancorin			46					CAGCCATCATCGACAGGGGGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000286149.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1	1	0	0	32	470	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	32	458	0	82	2								-7.808436	1	1	121412	3	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.800000	0.540000	1.000000	1.000000	0.814700	0.800000	0	6.500000e-01	1
VWA3A	146177	broad.mit.edu	37	16	22142594	22142594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22142594C>T	ENST00000389398.5	+	18	1817	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A			7					TTACAAAGTGCCTGGCGGTAG	0.498000																								0							SO:0001583	missense			ENST00000389398.5	1	1	hg19	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323604	0.81580	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.09073	3.02	5.17	5.17	0.71159	.	0.068546	0.64402	D	0.000017	T	0.28234	0.0697	M	0.73319	2.225	0.80722	D	1	D;D	0.60575	0.988;0.984	D;P	0.66084	0.941;0.785	T	0.01121	-1.1445	10	0.87932	D	0	.	17.295	0.87168	0.0:1.0:0.0:0.0	.	574;198	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	V	574;197	ENSP00000374049:A574V	ENSP00000299840:A197V	A	+	2	0	VWA3A	22050095	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.885000	0.63142	2.415000	0.81967	0.558000	0.71614	GCC		TCGA-IB-7651-01A-11D-2154-08	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1	1	0	1	34	124	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	33	121	0	29	2								-19.999490	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VWA3A	146177	broad.mit.edu	37	16	22163834	22163834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22163834C>T	ENST00000389398.5	+	31	3380	c.3284C>T	c.(3283-3285)gCg>gTg	p.A1095V	VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V|VWA3A_ENST00000389397.4_Missense_Mutation_p.A197V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A			7					CCTTCCAGAGCGGCGGTTGAG	0.587000																								0							SO:0001583	missense			ENST00000389398.5	1	1	hg19	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783587	0.31593	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.10192	2.9;2.9	5.41	0.262	0.15597	von Willebrand factor, type A (3);	1.334680	0.04516	N	0.383827	T	0.04137	0.0115	N	0.10733	0.035	0.09310	N	1	B;B	0.33379	0.209;0.41	B;B	0.22601	0.031;0.04	T	0.32508	-0.9904	10	0.18276	T	0.48	.	2.3963	0.04390	0.4702:0.2698:0.1533:0.1067	.	1095;197	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	V	1095;197;718	ENSP00000374049:A1095V;ENSP00000374048:A197V	ENSP00000299840:A718V	A	+	2	0	VWA3A	22071335	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.023000	0.12456	0.263000	0.21812	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1	1	0	1	23	107	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.999993e-01	21	100	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
TRAF7	84231	broad.mit.edu	37	16	2223366	2223366	+	Silent	SNP	C	C	T	rs113743245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223366C>T	ENST00000326181.6	+	10	1110	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase			23					CGGAGAAGATCGACCAGCTAG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000326181.6	1	1	hg19	CCDS10461.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	1	0	1	37	225	0	81	1	1	113	230	0	81	2		0	0	0	0	0	2	1	1	37	220	0	79	2								-20.000000	1	1	121406	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
TRAF7	84231	broad.mit.edu	37	16	2223811	2223811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223811C>T	ENST00000326181.6	+	12	1241	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase			23					CACATCAACGCGCGGCTGAAC	0.706000																								0							SO:0001583	missense			ENST00000326181.6	1	1	hg19	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280166	0.80692	.	.	ENSG00000131653	ENST00000326181	T	0.51071	0.72	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	N	0.24115	0.695	0.80722	D	1	P	0.48640	0.913	B	0.31390	0.129	T	0.21381	-1.0247	10	0.39692	T	0.17	-20.8037	17.1906	0.86878	0.0:1.0:0.0:0.0	.	370	Q6Q0C0	TRAF7_HUMAN	V	370	ENSP00000318944:A370V	ENSP00000318944:A370V	A	+	2	0	TRAF7	2163812	1.000000	0.71417	0.111000	0.21465	0.848000	0.48234	7.195000	0.77798	2.521000	0.84997	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	1	0	0	48	215	0	51	1	1	131	231	0	51	2		0	0	0	0	0	2	1	1	49	209	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EEF2K	29904	broad.mit.edu	37	16	22268113	22268113	+	Silent	SNP	G	G	A	rs112106407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22268113G>A	ENST00000263026.5	+	7	1137	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase			29					AGGACAGACCGGGCAAGCCCC	0.597000													NSCLC(195;1411 2157 20319 27471 51856)											0							SO:0001819	synonymous_variant			ENST00000263026.5	0	1	hg19	CCDS10604.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	0	0	0	7	246	0	40	0	4.950947e-01	0	55	0	40	2		0	0	0	0	0	2	1	9.796140e-01	7	241	0	40	2								-3.137717	1	1	121412	15	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.380000	0.160000	1.000000	0.340000	0.479881	0.380000	0	2.500000e-01	1
POLR3E	55718	broad.mit.edu	37	16	22320292	22320292	+	Missense_Mutation	SNP	G	G	A	rs145630346	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22320292G>A	ENST00000299853.5	+	5	379	c.212G>A	c.(211-213)cGc>cAc	p.R71H	POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)			27					AACTATTGCCGCAGCAAAGGG	0.617000																								0							SO:0001583	missense			ENST00000299853.5	1	1	hg19	CCDS10605.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.615409	0.87359	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.47528	0.84;0.84;0.84	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.61387	1.9	0.80722	D	1	D;D;P;P;D	0.89917	1.0;0.977;0.868;0.95;0.971	D;P;B;P;B	0.71656	0.974;0.64;0.271;0.64;0.378	T	0.68880	-0.5292	10	0.87932	D	0	-18.8766	18.5571	0.91089	0.0:0.0:1.0:0.0	.	35;71;71;71;71	B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;RPC5_HUMAN;.	H	71;71;35	ENSP00000299853:R71H;ENSP00000352140:R71H;ENSP00000399254:R35H	ENSP00000299853:R71H	R	+	2	0	POLR3E	22227793	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.381000	0.97205	2.684000	0.91462	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	1	0	1	82	362	0	82	1	1	50	85	0	82	2		0	0	0	0	0	2	1	1	80	354	0	82	2								-2.961238	1	1	121412	34	47	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR3E	55718	broad.mit.edu	37	16	22324989	22324989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22324989G>A	ENST00000299853.5	+	7	580	c.413G>A	c.(412-414)aGc>aAc	p.S138N	POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N|POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)			27					CTGCGGCCCAGCTTCTCCTAC	0.627000																								0							SO:0001583	missense			ENST00000299853.5	1	1	hg19	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337964	0.81911	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.52295	0.67;0.67;0.67	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	M	0.72353	2.195	0.80722	D	1	B;B;B;B;B;B	0.28400	0.116;0.009;0.116;0.075;0.116;0.21	B;B;B;B;B;B	0.35278	0.199;0.036;0.129;0.05;0.129;0.125	T	0.58730	-0.7585	10	0.87932	D	0	-18.61	18.0983	0.89498	0.0:0.0:1.0:0.0	.	82;102;138;138;138;138	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	N	138;138;102	ENSP00000299853:S138N;ENSP00000352140:S138N;ENSP00000399254:S102N	ENSP00000299853:S138N	S	+	2	0	POLR3E	22232490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.563000	0.86464	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	1	0	1	68	266	0	46	1	9.999996e-01	33	55	0	46	2		0	0	0	0	0	2	1	1	68	258	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR3E	55718	broad.mit.edu	37	16	22328345	22328345	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22328345G>T	ENST00000299853.5	+	11	925	c.758G>T	c.(757-759)aGc>aTc	p.S253I	POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I|POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)			27					ATGCCACCCAGCCAGGAGGAG	0.622000																								0							SO:0001583	missense			ENST00000299853.5	1	1	hg19	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017760	0.35606	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.46063	0.88;0.88;0.88	5.22	2.89	0.33648	.	0.259797	0.45126	D	0.000383	T	0.26268	0.0641	N	0.11427	0.14	0.34833	D	0.739931	B;B;B;B;B;B	0.33883	0.43;0.43;0.229;0.191;0.143;0.376	B;B;B;B;B;B	0.37833	0.259;0.122;0.243;0.109;0.175;0.168	T	0.44726	-0.9309	10	0.87932	D	0	-11.3541	10.3174	0.43745	0.2381:0.0:0.7619:0.0	.	197;217;253;253;253;253	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	I	253;253;217	ENSP00000299853:S253I;ENSP00000352140:S253I;ENSP00000399254:S217I	ENSP00000299853:S253I	S	+	2	0	POLR3E	22235846	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	2.155000	0.42301	1.186000	0.42985	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	1	0	1	129	506	0	113	1	1	44	79	0	113	2		0	0	0	0	0	2	1	1	128	492	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASKIN1	57524	broad.mit.edu	37	16	2237180	2237180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2237180C>A	ENST00000343516.6	-	8	914	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1			28					GCAACAGCTGCTTGATCTCCC	0.662000																								0							SO:0001583	missense			ENST00000343516.6	1	1	hg19	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201134	0.58234	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.69561	-0.41	3.69	1.7	0.24286	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.68650	0.3024	L	0.34521	1.04	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.67696	-0.5604	9	0.72032	D	0.01	-22.2528	6.8935	0.24243	0.0:0.6855:0.0:0.3145	.	274	Q8WXD9	CSKI1_HUMAN	N	274;103	ENSP00000345436:K274N	ENSP00000345436:K274N	K	-	3	2	CASKIN1	2177181	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.588000	0.23924	0.891000	0.36235	0.455000	0.32223	AAG		TCGA-IB-7651-01A-11D-2154-08	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	1	0	0	16	353	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.999200e-01	16	342	0	68	2								-16.954960	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.560000	0.320000	1.000000	0.520000	0.623049	0.560000	0	4.200000e-01	1
CASKIN1	57524	broad.mit.edu	37	16	2239246	2239246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2239246C>T	ENST00000343516.6	-	5	571	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1			28					CACCCCAACGCGGCCGAACTC	0.662000																								0							SO:0001583	missense			ENST00000343516.6	1	1	hg19	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336137	0.60963	2.48E-4	0.0	ENSG00000167971	ENST00000343516	T	0.63417	-0.04	3.46	3.46	0.39613	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.54631	0.1870	N	0.01705	-0.755	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.66504	-0.5907	9	0.44086	T	0.13	-11.7501	14.0324	0.64624	0.0:1.0:0.0:0.0	.	160	Q8WXD9	CSKI1_HUMAN	H	160	ENSP00000345436:R160H	ENSP00000345436:R160H	R	-	2	0	CASKIN1	2179247	1.000000	0.71417	0.994000	0.49952	0.874000	0.50279	5.790000	0.69038	1.954000	0.56735	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	1	0	1	38	199	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	37	193	0	44	2								-20.000000	1	1	120798	2	26	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MLST8	64223	broad.mit.edu	37	16	2256400	2256400	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2256400T>C	ENST00000569417.1	+	3	525	c.171T>C	c.(169-171)atT>atC	p.I57I	MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000565250.1_Silent_p.I57I|MLST8_ENST00000301724.10_Silent_p.I57I|MLST8_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000301725.7_Silent_p.I76I|MLST8_ENST00000397124.1_Silent_p.I57I|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000561651.1_3'UTR	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)			6					GCAGCATGATTGCTGCTGCAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000569417.1	1	1	hg19	CCDS10462.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	1	0	1	70	355	0	78	1	9.999999e-01	22	97	0	78	2		0	0	0	0	0	2	1	1	67	348	0	78	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGP	283871	broad.mit.edu	37	16	2264199	2264199	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264199G>A	ENST00000333503.7	-	1	609	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase			1					CCCACGAGCAGGCAGCCGGGC	0.706000													GBM(63;906 1080 2092 17773 18795)											0							SO:0001819	synonymous_variant			ENST00000333503.7	1	1	hg19	CCDS42104.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	1	0	0	22	93	0	19	1	9.999685e-01	23	55	0	19	2		0	0	0	0	0	2	1	9.999994e-01	22	92	0	18	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
PGP	283871	broad.mit.edu	37	16	2264203	2264203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264203G>A	ENST00000333503.7	-	1	605	c.576C>T	c.(574-576)ggC>ggT	p.G192G	BRICD5_ENST00000328540.3_5'Flank|RP11-304L19.8_ENST00000561544.1_lincRNA	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase			1					CGAGCAGGCAGCCGGGCTGCT	0.706000													GBM(63;906 1080 2092 17773 18795)											0							SO:0001819	synonymous_variant			ENST00000333503.7	1	1	hg19	CCDS42104.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	1	0	0	16	97	0	19	1	9.987865e-01	22	50	0	19	2		0	0	0	0	0	2	1	9.999527e-01	16	96	0	18	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.998440	0.990000	1	9.900000e-01	1
E4F1	1877	broad.mit.edu	37	16	2279622	2279622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2279622G>A	ENST00000301727.4	+	3	409	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	E4F1_ENST00000564139.1_Missense_Mutation_p.V121M|E4F1_ENST00000565090.1_Missense_Mutation_p.V121M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	p.V121L(1)		1					GGCCCACATCGTGGTGGAGGC	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000301727.4	1	1	hg19	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928132	0.52759	.	.	ENSG00000167967	ENST00000301727	T	0.07800	3.16	4.62	3.65	0.41850	.	0.423937	0.25909	N	0.027514	T	0.07908	0.0198	L	0.53249	1.67	0.33903	D	0.638749	P;B;B	0.36315	0.547;0.338;0.174	B;B;B	0.23574	0.047;0.023;0.022	T	0.16394	-1.0404	10	0.72032	D	0.01	-20.7327	10.1734	0.42924	0.0945:0.0:0.9055:0.0	.	117;121;121	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	M	121	ENSP00000301727:V121M	ENSP00000301727:V121M	V	+	1	0	E4F1	2219623	1.000000	0.71417	0.980000	0.43619	0.874000	0.50279	4.736000	0.62059	1.154000	0.42482	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	1	0	1	221	796	0	151	1	9.965663e-01	9	24	0	151	2		0	0	0	0	0	2	1	1	218	783	0	151	2								-20.000000	1	1	121404	2	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HS3ST2	9956	broad.mit.edu	37	16	22826268	22826268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22826268C>T	ENST00000261374.3	+	1	771	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2			19					GGGTACCAAGCGGTTGCCCCA	0.716000																								0							SO:0001583	missense			ENST00000261374.3	0	1	hg19	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994931	0.74703	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.51574	0.7	5.12	3.01	0.34805	.	0.053328	0.64402	D	0.000001	T	0.51210	0.1661	L	0.36672	1.1	0.53688	D	0.999977	D	0.71674	0.998	D	0.63793	0.918	T	0.51888	-0.8648	10	0.72032	D	0.01	.	7.645	0.28315	0.2493:0.6578:0.0:0.0929	.	113	Q9Y278	HS3S2_HUMAN	W	113;121	ENSP00000261374:R113W	ENSP00000261374:R113W	R	+	1	2	HS3ST2	22733769	0.998000	0.40836	1.000000	0.80357	0.927000	0.56198	0.513000	0.22770	1.137000	0.42214	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	1	0	0	14	88	0	14	0	2.689496e-01	0	7	0	14	2		0	0	0	0	0	2	1	9.997337e-01	12	84	0	14	2								-19.999710	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.970000	1.000000	1.000000	0.996983	0.990000	1	9.900000e-01	1
HS3ST2	9956	broad.mit.edu	37	16	22926338	22926338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926338G>A	ENST00000261374.3	+	2	993	c.559G>A	c.(559-561)Gct>Act	p.A187T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2			19					CACTCAAGAGGCTCCTCGACG	0.562000																								0							SO:0001583	missense			ENST00000261374.3	1	1	hg19	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655980	0.47467	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.48836	0.8	5.25	4.3	0.51218	Sulfotransferase domain (1);	0.051785	0.85682	D	0.000000	T	0.45155	0.1328	L	0.43646	1.37	0.80722	D	1	P	0.42649	0.786	B	0.44044	0.439	T	0.42361	-0.9456	10	0.49607	T	0.09	.	13.1286	0.59369	0.0769:0.0:0.9231:0.0	.	187	Q9Y278	HS3S2_HUMAN	T	187;195	ENSP00000261374:A187T	ENSP00000261374:A187T	A	+	1	0	HS3ST2	22833839	1.000000	0.71417	0.999000	0.59377	0.153000	0.21895	5.575000	0.67430	1.225000	0.43566	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	1	0	1	148	513	0	115	0	7.429664e-01	0	11	0	115	2		0	0	0	0	0	2	1	1	147	500	0	115	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HS3ST2	9956	broad.mit.edu	37	16	22926574	22926574	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926574G>A	ENST00000261374.3	+	2	1229	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2			19					AGTACTTCCCGCTAGCTCAGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000261374.3	1	1	hg19	CCDS10606.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	1	0	1	189	686	0	179	0	8.057074e-01	0	13	0	179	2		0	0	0	0	0	2	1	1	190	671	0	174	2								-4.260970	1	0	121412	7	46	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HS3ST2	9956	broad.mit.edu	37	16	22926592	22926592	+	Silent	SNP	C	C	T	rs144169281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926592C>T	ENST00000261374.3	+	2	1247	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2			19					AGATTCACTTCGTCAGTGGCG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000261374.3	1	1	hg19	CCDS10606.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	1	0	1	209	736	0	192	0	8.753015e-01	0	15	0	192	2		0	0	0	0	0	2	1	1	208	723	0	185	2								-20.000000	1	0	121412	2	38	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP31	57478	broad.mit.edu	37	16	23080093	23080093	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23080093C>T	ENST00000219689.7	-	16	3332	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	USP31_ENST00000567975.1_Silent_p.S404S	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31			57					GCTTCTGTGGCGAAGGAGATG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000219689.7	1	1	hg19	CCDS10607.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	0	0	1	129	616	1	157	1	9.352143e-01	7	17	1	157	2		0	0	0	0	0	2	1	1	126	597	1	156	17								-3.333802	1	1	121352	1	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP31	57478	broad.mit.edu	37	16	23093780	23093780	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23093780T>C	ENST00000219689.7	-	12	1928	c.1929A>G	c.(1927-1929)atA>atG	p.I643M		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31			57					TCTTTAGATGTATAATAAGCA	0.498000																								0							SO:0001583	missense			ENST00000219689.7	1	1	hg19	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751067	0.69533	.	.	ENSG00000103404	ENST00000219689	T	0.04083	3.71	4.75	-7.99	0.01131	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.155815	0.43110	D	0.000605	T	0.04182	0.0116	L	0.38175	1.15	0.80722	D	1	D	0.55800	0.973	P	0.49226	0.603	T	0.32508	-0.9904	10	0.72032	D	0.01	-2.6077	5.5788	0.17238	0.1062:0.1315:0.5449:0.2175	.	643	Q70CQ4	UBP31_HUMAN	M	643	ENSP00000219689:I643M	ENSP00000219689:I643M	I	-	3	3	USP31	23001281	0.017000	0.18338	0.011000	0.14972	0.999000	0.98932	-1.059000	0.03479	-1.905000	0.01090	0.528000	0.53228	ATA		TCGA-IB-7651-01A-11D-2154-08	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	1	0	1	83	324	0	68	1	9.939074e-01	12	21	0	68	2		0	0	0	0	0	2	1	1	82	319	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HBQ1	3049	broad.mit.edu	37	16	231010	231010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:231010C>T	ENST00000199708.2	+	3	366	c.332C>T	c.(331-333)gCc>gTc	p.A111V	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1			1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			GTAACCCTCGCCCGGCACTAC	0.706000																								0							SO:0001583	missense			ENST00000199708.2	1	1	hg19	CCDS10400.1	.	.	.	.	.	.	.	.	.	.	c	17.88	3.497944	0.64186	.	.	ENSG00000086506	ENST00000199708	D	0.94966	-3.57	3.83	2.87	0.33458	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.89095	3.005	0.45899	D	0.998748	D	0.89917	1.0	D	0.83275	0.996	D	0.96715	0.9528	10	0.87932	D	0	-22.2468	10.336	0.43850	0.0:0.9026:0.0:0.0974	.	111	P09105	HBAT_HUMAN	V	111	ENSP00000199708:A111V	ENSP00000199708:A111V	A	+	2	0	HBQ1	171010	0.968000	0.33430	0.881000	0.34555	0.993000	0.82548	2.412000	0.44609	0.819000	0.34492	0.486000	0.48141	GCC		TCGA-IB-7651-01A-11D-2154-08	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	1	0	0	39	182	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	38	180	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCNN1G	6340	broad.mit.edu	37	16	23226069	23226069	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23226069C>T	ENST00000300061.2	+	12	1673	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit			34				Amiloride(DB00594)|Triamterene(DB00384)	TCTACAAAGACCTGAACCAGA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000300061.2	1	1	hg19	CCDS10608.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	1	0	1	52	209	0	58	0	1.842833e-01	0	4	0	58	2		0	0	0	0	0	2	1	1	51	205	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA3	21	broad.mit.edu	37	16	2328417	2328417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2328417G>A	ENST00000301732.5	-	30	5290	c.4590C>T	c.(4588-4590)atC>atT	p.I1530I	ABCA3_ENST00000382381.3_Silent_p.I1472I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3			70		Ovarian(90;0.17)		Imatinib(DB00619)	CAGGCTCTCCGATCAGGGCGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000301732.5	1	1	hg19	CCDS10466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	1	90	359	0	80	1	1	39	62	0	80	2		0	0	0	0	0	2	1	1	87	354	0	81	2								-3.343978	1	1	121410	1	29	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA3	21	broad.mit.edu	37	16	2334403	2334403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2334403G>A	ENST00000301732.5	-	25	4439	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	ABCA3_ENST00000382381.3_Missense_Mutation_p.H1189Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3			70		Ovarian(90;0.17)		Imatinib(DB00619)	AGGAACACGTGATCCAGGGTT	0.587000																								0							SO:0001583	missense			ENST00000301732.5	1	1	hg19	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835772	0.16820	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86366	-2.11	5.31	2.05	0.26809	.	0.740809	0.13088	N	0.414772	T	0.75391	0.3843	L	0.34521	1.04	0.53005	D	0.99996	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.005	T	0.60561	-0.7239	10	0.06494	T	0.89	.	6.4674	0.21990	0.1554:0.0:0.6437:0.2009	.	1251;1247	Q4LE27;Q99758	.;ABCA3_HUMAN	Y	1247;1251	ENSP00000301732:H1247Y	ENSP00000301732:H1247Y	H	-	1	0	ABCA3	2274404	1.000000	0.71417	0.267000	0.24556	0.537000	0.34900	5.356000	0.66052	0.642000	0.30620	0.650000	0.86243	CAC		TCGA-IB-7651-01A-11D-2154-08	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	1	117	515	0	111	1	9.999993e-01	30	59	0	111	2		0	0	0	0	0	2	1	1	118	510	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCNN1B	6338	broad.mit.edu	37	16	23364329	23364329	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23364329C>A	ENST00000343070.2	+	3	695	c.519C>A	c.(517-519)ggC>ggA	p.G173G	SCNN1B_ENST00000568923.1_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G|SCNN1B_ENST00000568085.1_Silent_p.G173G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit			32				Amiloride(DB00594)|Triamterene(DB00384)	ACCACAATGGCTTAACAAGCA	0.502000																								0		GRCh37	CI994507	SCNN1B	I		SO:0001819	synonymous_variant			ENST00000343070.2	1	1	hg19	CCDS10609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2	0	0	1	112	511	1	131	0	6.632607e-01	0	12	1	131	2		0	0	0	0	0	2	1	1	112	501	1	129	17								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCNN1B	6338	broad.mit.edu	37	16	23382619	23382619	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23382619G>A	ENST00000343070.2	+	6	1056		c.e6-1		SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit			32				Amiloride(DB00594)|Triamterene(DB00384)	CCTCCCCACAGGCCTGAAGTT	0.622000																								0							SO:0001630	splice_region_variant			ENST00000343070.2	1	1	hg19	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796929	0.70567	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCNN1B	23290120	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.235000	0.78143	2.327000	0.79052	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2	1	0	1	34	135	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	33	134	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COG7	91949	broad.mit.edu	37	16	23403772	23403772	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23403772G>A	ENST00000307149.5	-	16	2260	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7			27					ATCACAGTAGGTCTGCATTGT	0.577000																								0							SO:0001583	missense			ENST00000307149.5	1	1	hg19	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662772	0.67700	.	.	ENSG00000168434	ENST00000307149	T	0.42900	0.96	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53322	-0.8455	10	0.16420	T	0.52	-37.0723	18.2016	0.89840	0.0:0.0:1.0:0.0	.	692	P83436	COG7_HUMAN	I	692	ENSP00000305442:T692I	ENSP00000305442:T692I	T	-	2	0	COG7	23311273	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.013000	0.88655	2.534000	0.85438	0.484000	0.47621	ACC		TCGA-IB-7651-01A-11D-2154-08	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1	1	0	1	68	253	0	69	1	9.999996e-01	27	57	0	69	2		0	0	0	0	0	2	1	1	68	248	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COG7	91949	broad.mit.edu	37	16	23409440	23409440	+	Missense_Mutation	SNP	G	G	A	rs16940094	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23409440G>A	ENST00000307149.5	-	14	1999	c.1814C>T	c.(1813-1815)aCg>aTg	p.T605M		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7			27					GATGCCAGCCGTATTCCAGCT	0.532000																								0							SO:0001583	missense			ENST00000307149.5	1	0	hg19	CCDS10610.1	136	0.06227106227106227	79	0.16056910569105692	28	0.07734806629834254	11	0.019230769230769232	18	0.023746701846965697	G	13.05	2.121490	0.37436	0.154984	0.029884	ENSG00000168434	ENST00000307149	T	0.44881	0.91	5.6	3.67	0.42095	.	0.270197	0.42682	N	0.000671	T	0.00178	0.0005	N	0.24115	0.695	0.34894	P	0.254186	D	0.57571	0.98	P	0.52109	0.69	T	0.05632	-1.0873	9	0.42905	T	0.14	-15.5303	10.0248	0.42066	0.1547:0.0:0.8453:0.0	rs16940094;rs16940094	605	P83436	COG7_HUMAN	M	605	ENSP00000305442:T605M	ENSP00000305442:T605M	T	-	2	0	COG7	23316941	1.000000	0.71417	0.745000	0.31077	0.194000	0.23727	5.583000	0.67484	0.747000	0.32809	-0.742000	0.03525	ACG		TCGA-IB-7651-01A-11D-2154-08	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1	0	0	1	46	206	0	40	1	9.999965e-01	36	51	0	40	2		0	0	0	0	0	2	1	1	45	204	0	39	2								-1.658989	0	1	121412	6261	69	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COG7	91949	broad.mit.edu	37	16	23430028	23430028	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23430028A>G	ENST00000307149.5	-	8	1315	c.1130T>C	c.(1129-1131)gTg>gCg	p.V377A		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7			27					TACCAGAGGCACAGCACTCAT	0.572000																								0							SO:0001583	missense			ENST00000307149.5	1	1	hg19	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826711	0.50739	.	.	ENSG00000168434	ENST00000307149	T	0.52295	0.67	5.73	5.73	0.89815	.	0.165224	0.53938	D	0.000059	T	0.43500	0.1250	L	0.46157	1.445	0.49798	D	0.99982	B	0.29671	0.254	B	0.32342	0.144	T	0.28106	-1.0054	10	0.22706	T	0.39	-14.745	15.1912	0.73047	1.0:0.0:0.0:0.0	.	377	P83436	COG7_HUMAN	A	377	ENSP00000305442:V377A	ENSP00000305442:V377A	V	-	2	0	COG7	23337529	1.000000	0.71417	0.946000	0.38457	0.299000	0.27559	9.290000	0.96065	2.185000	0.69588	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1	1	0	1	39	152	0	45	1	9.999901e-01	28	45	0	45	2		0	0	0	0	0	2	1	1	39	151	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA3	21	broad.mit.edu	37	16	2347331	2347331	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347331G>A	ENST00000301732.5	-	17	2962	c.2262C>T	c.(2260-2262)taC>taT	p.Y754Y	ABCA3_ENST00000382381.3_Splice_Site_p.Y696Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3			70		Ovarian(90;0.17)		Imatinib(DB00619)	ACCGCTCACCGTATTTCTGCT	0.642000																								0							SO:0001630	splice_region_variant			ENST00000301732.5	1	0	hg19	CCDS10466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	1	67	243	0	47	1	9.999989e-01	35	41	0	47	2		0	0	0	0	0	2	1	1	65	241	0	46	2								-20.000000	1	0	121406	5	37	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA3	21	broad.mit.edu	37	16	2347394	2347394	+	Silent	SNP	G	G	A	rs138901284	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347394G>A	ENST00000301732.5	-	17	2899	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	ABCA3_ENST00000382381.3_Silent_p.I675I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3			70		Ovarian(90;0.17)		Imatinib(DB00619)	CCATGATGGCGATGCGGTCTC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000301732.5	1	1	hg19	CCDS10466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	1	108	461	0	90	1	9.998851e-01	23	35	0	90	2		0	0	0	0	0	2	1	1	105	457	0	90	2								-3.352476	1	0	121412	42	51	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EARS2	124454	broad.mit.edu	37	16	23555946	23555946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23555946G>A	ENST00000563459.1	-	3	380	c.374C>T	c.(373-375)gCc>gTc	p.A125V	EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000449606.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000563232.1_Missense_Mutation_p.A125V			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial			8					TGTGGCCTGGGCATACAGCTC	0.632000																								0							SO:0001583	missense			ENST00000563459.1	0	1	hg19	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522232	0.27211	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.22539	1.95	5.66	5.66	0.87406	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.684095	0.15332	N	0.267955	T	0.17492	0.0420	L	0.31526	0.94	0.29233	N	0.873174	P;B	0.45827	0.867;0.04	B;B	0.41860	0.368;0.166	T	0.07328	-1.0778	10	0.56958	D	0.05	-0.6922	9.9702	0.41749	0.0:0.1579:0.6978:0.1443	.	125;125	Q86YH3;Q5JPH6	.;SYEM_HUMAN	V	125	ENSP00000395196:A125V	ENSP00000343488:A125V	A	-	2	0	EARS2	23463447	0.000000	0.05858	0.991000	0.47740	0.096000	0.18686	0.438000	0.21559	2.673000	0.90976	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	1	0	1	9	107	0	21	1	9.392733e-01	12	49	0	21	2		0	0	0	0	0	2	1	9.943864e-01	9	105	0	21	2								-14.070620	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.490000	1.000000	1.000000	0.894561	0.990000	1	7.100000e-01	1
ABCA3	21	broad.mit.edu	37	16	2358456	2358456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2358456G>A	ENST00000301732.5	-	11	1980	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	p.A427V(1)		70		Ovarian(90;0.17)		Imatinib(DB00619)	CTCACCTTTCGCCTCAAATTT	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000301732.5	1	1	hg19	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738516	0.15574	.	.	ENSG00000167972	ENST00000301732	T	0.74632	-0.86	5.65	3.59	0.41128	.	.	.	.	.	T	0.61850	0.2380	L	0.53780	1.695	0.80722	D	1	B;B	0.32829	0.386;0.386	B;B	0.22753	0.041;0.041	T	0.56625	-0.7948	9	0.20046	T	0.44	.	8.2688	0.31831	0.0863:0.2912:0.6225:0.0	.	427;427	A7MBM9;Q99758	.;ABCA3_HUMAN	V	427	ENSP00000301732:A427V	ENSP00000301732:A427V	A	-	2	0	ABCA3	2298457	1.000000	0.71417	0.042000	0.18584	0.005000	0.04900	6.126000	0.71635	1.389000	0.46526	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	1	0	1	38	228	0	49	1	9.961502e-01	19	35	0	49	2		0	0	0	0	0	2	1	1	38	222	0	49	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
PALB2	79728	broad.mit.edu	37	16	23641691	23641691	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23641691T>G	ENST00000261584.4	-	5	1936	c.1784A>C	c.(1783-1785)gAt>gCt	p.D595A		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2			55					CAGCATTCCATCCCTATGAAA	0.393000			F, N, Mis			Wilms tumor, medulloblastoma, AML ,breast		Involved in tolerance or repair of DNA crosslinks						yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	79728	partner and localizer of BRCA2		L, O, E	0							SO:0001583	missense			ENST00000261584.4	1	1	hg19	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	9.184	1.024334	0.19433	.	.	ENSG00000083093	ENST00000261584	T	0.15139	2.45	5.89	3.65	0.41850	.	1.087770	0.06976	N	0.818945	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	B	0.23249	0.082	B	0.28011	0.085	T	0.38156	-0.9674	10	0.59425	D	0.04	-0.2254	7.4692	0.27338	0.0:0.2393:0.0:0.7607	.	595	Q86YC2	PALB2_HUMAN	A	595	ENSP00000261584:D595A	ENSP00000261584:D595A	D	-	2	0	PALB2	23549192	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.219000	0.32479	0.475000	0.27415	-0.250000	0.11733	GAT		TCGA-IB-7651-01A-11D-2154-08	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	1	0	0	21	263	0	43	0	5.935233e-01	1	25	0	43	2	1	1	25	434	0	337	2	1	9.999976e-01	21	259	0	42	2								-7.522296	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.940000	0.580000	1.000000	1.000000	0.892771	0.940000	1	7.400000e-01	1
PALB2	79728	broad.mit.edu	37	16	23646945	23646945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23646945C>T	ENST00000261584.4	-	4	1074	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2			55					TTACTTATAGCTTTATTTACA	0.353000			F, N, Mis			Wilms tumor, medulloblastoma, AML ,breast		Involved in tolerance or repair of DNA crosslinks						yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	79728	partner and localizer of BRCA2		L, O, E	0							SO:0001583	missense			ENST00000261584.4	1	1	hg19	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202066	0.22121	.	.	ENSG00000083093	ENST00000261584	T	0.16457	2.34	6.07	-5.77	0.02369	.	1.442380	0.03986	N	0.294067	T	0.17916	0.0430	M	0.63428	1.95	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.39292	-0.9621	10	0.48119	T	0.1	0.8454	8.884	0.35392	0.0:0.3679:0.1007:0.5314	.	308	Q86YC2	PALB2_HUMAN	T	308	ENSP00000261584:A308T	ENSP00000261584:A308T	A	-	1	0	PALB2	23554446	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.694000	0.05115	-1.030000	0.03312	-0.136000	0.14681	GCT		TCGA-IB-7651-01A-11D-2154-08	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	1	0	1	107	496	0	133	1	9.926041e-01	11	26	0	133	2	1	1	54	153	0	150	2	1	1	104	487	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PALB2	79728	broad.mit.edu	37	16	23649187	23649187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23649187C>T	ENST00000261584.4	-	3	347	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2			55					GTTTTAGCTGCGGTGAGAGAT	0.388000			F, N, Mis			Wilms tumor, medulloblastoma, AML ,breast		Involved in tolerance or repair of DNA crosslinks						yes	Rec		Fanconi anaemia N, breast cancer susceptibility 	16	16p12.1	79728	partner and localizer of BRCA2		L, O, E	0							SO:0001819	synonymous_variant			ENST00000261584.4	0	1	hg19	CCDS32406.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	1	0	0	84	313	1	51	1	8.270348e-01	8	18	1	51	4	1	1	122	586	1	607	6	1	1	83	310	1	51	23								-3.892211	1	0	121412	5	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLK1	5347	broad.mit.edu	37	16	23693421	23693421	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23693421T>G	ENST00000300093.4	+	4	870	c.759T>G	c.(757-759)acT>acG	p.T253T		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1			23					CTTTTGAGACTTCTTGCCTAA	0.423000													Colon(12;240 564 27038 33155)											0							SO:0001819	synonymous_variant			ENST00000300093.4	1	1	hg19	CCDS10616.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	1	0	1	22	423	0	106	1	6.884918e-01	5	42	0	106	2		0	0	0	0	0	2	1	9.999985e-01	22	414	0	104	2								-19.999100	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.630000	0.390000	1.000000	0.590000	0.679176	0.630000	0	4.900000e-01	1
ERN2	10595	broad.mit.edu	37	16	23706195	23706195	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23706195C>A	ENST00000457008.2	-	16	1836	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	ERN2_ENST00000256797.4_Missense_Mutation_p.G700C					endoplasmic reticulum to nucleus signaling 2			6					CTGCCCAGGCCCTGGCTGTCA	0.632000																								0							SO:0001583	missense			ENST00000457008.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.43	3.388176	0.61956	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.56941	0.43;0.43	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77848	-0.2435	10	0.87932	D	0	.	16.9969	0.86370	0.0:1.0:0.0:0.0	.	600;652	E7ETG2;A5YM65	.;.	C	700;600	ENSP00000256797:G700C;ENSP00000413812:G600C	ENSP00000256797:G700C	G	-	1	0	ERN2	23613696	1.000000	0.71417	0.976000	0.42696	0.054000	0.15201	5.689000	0.68234	2.676000	0.91093	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1	1	0	1	36	170	0	39	1	9.999958e-01	42	52	0	39	2		0	0	0	0	0	2	1	1	36	165	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ERN2	10595	broad.mit.edu	37	16	23713497	23713497	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23713497G>T	ENST00000457008.2	-	11	1217	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	ERN2_ENST00000256797.4_Silent_p.T441T					endoplasmic reticulum to nucleus signaling 2			6					CTGGGGCCTGGGTATTCTCTG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000457008.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1	1	0	1	95	455	0	103	1	9.999832e-01	37	40	0	103	2		0	0	0	0	0	2	1	1	94	445	0	102	2								-3.043150	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHP2	63928	broad.mit.edu	37	16	23767434	23767434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23767434G>A	ENST00000300113.2	+	4	695	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2			9					GCTCATTTTCGCCCTGTAGAA	0.527000																								0							SO:0001583	missense			ENST00000300113.2	1	1	hg19	CCDS10617.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	16.47	3.133391	0.56828	.	.	ENSG00000166869	ENST00000300113	T	0.30182	1.54	4.48	3.51	0.40186	EF-hand-like domain (1);	0.081158	0.48767	D	0.000165	T	0.40595	0.1123	M	0.77103	2.36	0.50171	D	0.999855	D	0.76494	0.999	P	0.57425	0.82	T	0.49293	-0.8955	10	0.48119	T	0.1	-4.8275	12.4389	0.55614	0.0:0.1709:0.8291:0.0	.	91	O43745	CHP2_HUMAN	H	91	ENSP00000300113:R91H	ENSP00000300113:R91H	R	+	2	0	AC130454.2	23674935	1.000000	0.71417	0.727000	0.30756	0.196000	0.23810	8.491000	0.90468	1.223000	0.43536	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	1	0	1	58	238	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	1	55	234	0	52	2								-3.221883	1	1	121412	22	44	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCB	5579	broad.mit.edu	37	16	23847551	23847551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23847551C>T	ENST00000321728.7	+	1	230	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C|PRKCB_ENST00000303531.7_Missense_Mutation_p.R19C	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta			9				Tamoxifen(DB00675)|Vitamin E(DB00163)	GAGCACCGTGCGCTTCGCCCG	0.706000																								0							SO:0001583	missense			ENST00000321728.7	1	1	hg19	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.811300	0.50527	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.88975	-2.45;-2.45	3.71	3.71	0.42584	.	0.166541	0.39020	U	0.001498	D	0.92851	0.7726	M	0.66939	2.045	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.79784	0.966;0.993	D	0.93132	0.6534	10	0.56958	D	0.05	.	13.3189	0.60423	0.0:1.0:0.0:0.0	.	19;19	P05771-2;P05771	.;KPCB_HUMAN	C	19	ENSP00000318315:R19C;ENSP00000305355:R19C	ENSP00000305355:R19C	R	+	1	0	PRKCB	23755052	1.000000	0.71417	0.998000	0.56505	0.038000	0.13279	4.341000	0.59335	1.768000	0.52137	0.558000	0.71614	CGC		TCGA-IB-7651-01A-11D-2154-08	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	1	0	0	86	233	0	52	0	6.036586e-01	0	7	0	52	2		0	0	0	0	0	2	1	1	86	231	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCB	5579	broad.mit.edu	37	16	24192159	24192159	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24192159G>T	ENST00000321728.7	+	13	1618	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N	PRKCB_ENST00000303531.7_Missense_Mutation_p.K481N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta			9				Tamoxifen(DB00675)|Vitamin E(DB00163)	GACACATCAAGATTGCCGATT	0.453000																								0							SO:0001583	missense			ENST00000321728.7	1	1	hg19	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489032	0.84962	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.38887	1.11;1.11	5.9	3.93	0.45458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76987	-0.2755	10	0.87932	D	0	.	10.5616	0.45148	0.1552:0.0:0.8448:0.0	.	481;481	P05771-2;P05771	.;KPCB_HUMAN	N	481	ENSP00000318315:K481N;ENSP00000305355:K481N	ENSP00000305355:K481N	K	+	3	2	PRKCB	24099660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.372000	0.44257	1.467000	0.48044	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	1	0	1	118	511	1	103	0	8.753583e-01	0	18	1	103	2		0	0	0	0	0	2	1	1	117	506	1	102	20								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBBP6	5930	broad.mit.edu	37	16	24574565	24574565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24574565G>T	ENST00000319715.4	+	11	1767	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6			46					TTGCATCAGAGCACTCAAAGG	0.328000																								0							SO:0001583	missense			ENST00000319715.4	1	1	hg19	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357741	0.41801	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.14391	2.51;2.52	5.75	-1.1	0.09872	.	0.219325	0.31113	N	0.008225	T	0.05777	0.0151	N	0.14661	0.345	0.31755	N	0.634154	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.32851	-0.9891	10	0.19147	T	0.46	-26.9606	6.0765	0.19919	0.3838:0.0:0.4308:0.1854	.	445;445	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	D	445	ENSP00000317872:E445D;ENSP00000316291:E445D	ENSP00000317872:E445D	E	+	3	2	RBBP6	24482066	0.003000	0.15002	0.996000	0.52242	0.971000	0.66376	-1.903000	0.01594	-0.076000	0.12775	-0.471000	0.05019	GAG		TCGA-IB-7651-01A-11D-2154-08	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	0	0	0	28	822	0	122	0	2.216649e-01	1	25	0	122	2		0	0	0	0	0	2	1	1	28	802	0	122	2								-3.261332	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.410000	0.270000	1.000000	0.390000	0.509916	0.410000	0	3.300000e-01	1
RBBP6	5930	broad.mit.edu	37	16	24581479	24581479	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581479A>G	ENST00000319715.4	+	17	3900	c.3468A>G	c.(3466-3468)gtA>gtG	p.V1156V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.V1122V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6			46					AAAAAGGCGTAGATAAAGATT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000319715.4	1	1	hg19	CCDS10621.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	1	0	1	22	375	0	68	1	8.992335e-01	9	61	0	68	2		0	0	0	0	0	2	1	9.999985e-01	22	366	0	68	2								-5.752765	1	1	121378	1	30	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.700000	0.440000	1.000000	0.660000	0.738385	0.700000	0	5.500000e-01	1
RBBP6	5930	broad.mit.edu	37	16	24581622	24581622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581622C>T	ENST00000319715.4	+	17	4043	c.3611C>T	c.(3610-3612)gCg>gTg	p.A1204V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	p.A1204V(1)		46					TCTTTAAGTGCGCCAGCCAAA	0.368000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000319715.4	1	1	hg19	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	c	9.642	1.139303	0.21205	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17213	2.29;2.29	5.59	4.65	0.58169	.	0.314743	0.27227	N	0.020321	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.19679	-1.0298	10	0.41790	T	0.15	-2.5212	6.7918	0.23703	0.1431:0.7081:0.0:0.1488	.	1170;1204	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	1204;1170	ENSP00000317872:A1204V;ENSP00000316291:A1170V	ENSP00000317872:A1204V	A	+	2	0	RBBP6	24489123	0.998000	0.40836	0.735000	0.30896	0.050000	0.14768	2.636000	0.46545	1.368000	0.46115	-0.119000	0.15052	GCG		TCGA-IB-7651-01A-11D-2154-08	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	1	0	1	83	364	0	75	1	1	37	72	0	75	2		0	0	0	0	0	2	1	1	81	356	0	75	2								-20.000000	1	1	121402	2	31	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNRC6A	27327	broad.mit.edu	37	16	24788479	24788479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24788479C>A	ENST00000395799.3	+	5	518	c.389C>A	c.(388-390)cCt>cAt	p.P130H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P130H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A			64					cagGCCTTGCCTCGGTATCCT	0.587000																								0							SO:0001583	missense			ENST00000395799.3	0	1	hg19	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698489	0.88830	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12147	2.71;2.71	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000002	T	0.30103	0.0754	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.00118	-1.2033	10	0.42905	T	0.14	-3.9194	20.3495	0.98807	0.0:1.0:0.0:0.0	.	130	Q8NDV7	TNR6A_HUMAN	H	130	ENSP00000326900:P130H;ENSP00000379144:P130H	ENSP00000326900:P130H	P	+	2	0	TNRC6A	24695980	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.043000	0.64208	2.814000	0.96858	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	0	0	0	12	649	0	106	0	8.262089e-02	0	24	0	106	2		0	0	0	0	0	2	1	9.988056e-01	12	616	0	104	2								-3.080666	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.240000	0.120000	1.000000	0.220000	0.367321	0.240000	0	1.700000e-01	1
TNRC6A	27327	broad.mit.edu	37	16	24831545	24831545	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24831545G>A	ENST00000395799.3	+	22	5295	c.5166G>A	c.(5164-5166)ttG>ttA	p.L1722L	TNRC6A_ENST00000432286.2_Silent_p.L200L|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Silent_p.L1673L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A			64					AGGTCCCTTTGCCACCTAAAA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000395799.3	1	1	hg19	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225771	0.22542	.	.	ENSG00000090905	ENST00000450465	.	.	.	5.79	3.76	0.43208	.	.	.	.	.	T	0.62877	0.2464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59402	-0.7461	4	.	.	.	-5.0009	12.1343	0.53961	0.1445:0.0:0.8555:0.0	.	.	.	.	T	613	.	.	A	+	1	0	TNRC6A	24739046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.028000	0.57246	0.720000	0.32209	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	0	0	0	19	649	0	120	0	6.764761e-01	1	79	0	120	2		0	0	0	0	0	2	1	9.999895e-01	20	640	0	119	2								-2.960110	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.360000	0.210000	1.000000	0.340000	0.468212	0.360000	0	2.800000e-01	1
SLC5A11	115584	broad.mit.edu	37	16	24922842	24922842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24922842C>T	ENST00000347898.3	+	16	2638	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000568579.1_Silent_p.G602G|SLC5A11_ENST00000449109.2_Silent_p.G516G|SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000424767.2_Silent_p.G637G	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11			49					TTATCTGGGGCTATTTTGCTT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000347898.3	1	1	hg19	CCDS10625.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	1	0	1	119	543	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	1	115	537	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP17	55114	broad.mit.edu	37	16	24931466	24931466	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24931466C>A	ENST00000289968.6	-	20	2700	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17			30					GGGCAGTGCTCTCGGTATCAT	0.557000																								0							SO:0001583	missense			ENST00000289968.6	1	1	hg19	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295147	0.23564	.	.	ENSG00000140750	ENST00000289968;ENST00000303665	T;T	0.36520	1.49;1.25	6.08	-7.63	0.01290	.	0.000000	0.41396	D	0.000890	T	0.51160	0.1658	M	0.65975	2.015	0.33623	D	0.605049	D;D;D;D	0.76494	0.996;0.994;0.998;0.999	D;D;D;D	0.77557	0.987;0.97;0.99;0.987	T	0.66085	-0.6011	10	0.87932	D	0	.	17.2368	0.87001	0.0:0.6168:0.0:0.3832	.	799;877;410;710	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	877;799	ENSP00000289968:E877D;ENSP00000303130:E799D	ENSP00000289968:E877D	E	-	3	2	ARHGAP17	24838967	0.035000	0.19736	0.083000	0.20561	0.012000	0.07955	-1.553000	0.02174	-1.429000	0.01987	-1.631000	0.00782	GAG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	1	0	1	142	590	0	124	1	1	26	144	0	124	2		0	0	0	0	0	2	1	1	139	578	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP17	55114	broad.mit.edu	37	16	24942726	24942726	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24942726C>A	ENST00000289968.6	-	19	1964		c.e19-1		ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17			30					TTTTTAACAGCTGCACAAaaa	0.537000																								0							SO:0001630	splice_region_variant			ENST00000289968.6	1	1	hg19	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532339	0.27387	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6581	0.85234	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP17	24850227	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	6.056000	0.71111	2.518000	0.84900	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	1	0	0	107	328	0	51	1	6.150277e-02	2	0	0	51	2		0	0	0	0	0	2	1	1	104	315	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP17	55114	broad.mit.edu	37	16	24946886	24946886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24946886C>T	ENST00000289968.6	-	18	1868	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17			30					CTGATTTTGGCCAGATGCTAT	0.567000																								0							SO:0001583	missense			ENST00000289968.6	1	1	hg19	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524083	0.44866	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.22945	1.93;1.96	5.3	4.32	0.51571	.	0.158822	0.29579	N	0.011758	T	0.41026	0.1141	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.998;0.966;0.999;1.0	P;P;D;D	0.70016	0.876;0.598;0.967;0.957	T	0.19095	-1.0316	10	0.16420	T	0.52	.	10.8375	0.46696	0.1965:0.8035:0.0:0.0	.	522;600;133;433	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	D	600;522;600	ENSP00000289968:G600D;ENSP00000303130:G522D	ENSP00000289968:G600D	G	-	2	0	ARHGAP17	24854387	0.786000	0.28738	0.719000	0.30619	0.112000	0.19704	1.485000	0.35519	1.172000	0.42781	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	1	0	1	17	137	0	42	1	9.997501e-01	13	104	0	42	2		0	0	0	0	0	2	1	9.999747e-01	17	137	0	42	2								-9.085290	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.830000	1.000000	1.000000	0.989254	0.990000	1	9.900000e-01	1
ARHGAP17	55114	broad.mit.edu	37	16	24958811	24958811	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24958811T>C	ENST00000289968.6	-	14	1302	c.1233A>G	c.(1231-1233)agA>agG	p.R411R	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R411R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17			30					ACCCTTCATTTCTGGCCCATA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000289968.6	1	1	hg19	CCDS32409.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	1	0	0	18	263	0	49	1	9.942494e-01	12	112	0	49	2		0	0	0	0	0	2	1	9.999839e-01	18	262	0	49	2								-19.995490	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.820000	0.490000	1.000000	1.000000	0.818825	0.820000	0	6.300000e-01	1
CCNF	899	broad.mit.edu	37	16	2499376	2499376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2499376T>C	ENST00000397066.4	+	12	1400	c.1312T>C	c.(1312-1314)Tcc>Ccc	p.S438P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F			20		Ovarian(90;0.17)			CTGCGAGCTCTCCCTGCTGCA	0.652000																								0							SO:0001583	missense			ENST00000397066.4	1	1	hg19	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435819	0.83885	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.27720	1.65	5.43	4.31	0.51392	Cyclin, C-terminal (1);Cyclin-like (3);	0.050440	0.85682	D	0.000000	T	0.57344	0.2047	M	0.89715	3.055	0.52501	D	0.999954	P	0.50066	0.931	P	0.61003	0.882	T	0.62978	-0.6739	10	0.87932	D	0	-28.9433	10.3694	0.44044	0.1518:0.0:0.0:0.8482	.	438	P41002	CCNF_HUMAN	P	438;353	ENSP00000380256:S438P	ENSP00000293968:S353P	S	+	1	0	CCNF	2439377	1.000000	0.71417	0.957000	0.39632	0.987000	0.75469	4.524000	0.60552	0.853000	0.35312	0.460000	0.39030	TCC		TCGA-IB-7651-01A-11D-2154-08	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	1	0	1	73	247	0	41	1	9.372073e-01	6	12	0	41	2		0	0	0	0	0	2	1	1	73	241	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf59	80178	broad.mit.edu	37	16	2510961	2510961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510961C>A	ENST00000361837.4	+	4	406	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	C16orf59_ENST00000569496.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59			3		Ovarian(90;0.17)			ATTGTCACCTCTTCTGGCACG	0.617000																								0							SO:0001583	missense			ENST00000361837.4	1	1	hg19	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720521	0.30503	.	.	ENSG00000162062	ENST00000361837	T	0.50813	0.73	3.12	2.13	0.27403	.	.	.	.	.	T	0.43366	0.1244	L	0.36672	1.1	0.18873	N	0.999989	P	0.47191	0.891	P	0.48227	0.571	T	0.23868	-1.0176	9	0.62326	D	0.03	-0.2078	8.1298	0.31020	0.0:0.7507:0.2493:0.0	.	114	Q7L2K0	CP059_HUMAN	Y	114	ENSP00000355022:S114Y	ENSP00000355022:S114Y	S	+	2	0	C16orf59	2450962	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	1.034000	0.30204	0.609000	0.30018	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	1	0	1	82	316	0	67	1	9.083088e-01	11	7	0	67	2		0	0	0	0	0	2	1	1	80	313	0	66	2								-3.661295	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf59	80178	broad.mit.edu	37	16	2510970	2510970	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510970C>T	ENST00000361837.4	+	4	415	c.350C>T	c.(349-351)aCg>aTg	p.T117M	C16orf59_ENST00000569496.1_Missense_Mutation_p.T117M|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M|C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59			3		Ovarian(90;0.17)			TCTTCTGGCACGACAGCCTCC	0.617000																								0							SO:0001583	missense			ENST00000361837.4	1	1	hg19	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550521	0.45383	.	.	ENSG00000162062	ENST00000361837	T	0.47528	0.84	3.97	-0.205	0.13196	.	0.621363	0.11903	U	0.518417	T	0.32496	0.0831	L	0.54323	1.7	0.09310	N	0.999999	P	0.37398	0.593	B	0.27715	0.082	T	0.25012	-1.0144	10	0.72032	D	0.01	-0.6322	3.1424	0.06460	0.1875:0.5022:0.0:0.3103	.	117	Q7L2K0	CP059_HUMAN	M	117	ENSP00000355022:T117M	ENSP00000355022:T117M	T	+	2	0	C16orf59	2450971	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.089000	0.15002	0.004000	0.14682	-0.793000	0.03317	ACG		TCGA-IB-7651-01A-11D-2154-08	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	1	0	1	81	298	0	62	1	9.022265e-01	9	8	0	62	2		0	0	0	0	0	2	1	1	79	295	0	61	2								-3.941666	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf59	80178	broad.mit.edu	37	16	2511088	2511088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2511088G>A	ENST00000361837.4	+	4	533	c.468G>A	c.(466-468)cgG>cgA	p.R156R	C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000483320.1_De_novo_Start_InFrame|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59			3		Ovarian(90;0.17)			CTGAGCGCCGGCTGCTGTCAG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000361837.4	1	0	hg19	CCDS10468.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	1	0	0	29	283	0	39	0	4.240607e-01	1	14	0	39	2		0	0	0	0	0	2	1	1	28	277	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.780000	1.000000	1.000000	0.977574	0.990000	1	9.500000e-01	1
LCMT1	51451	broad.mit.edu	37	16	25143812	25143812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25143812G>A	ENST00000399069.3	+	3	450	c.295G>A	c.(295-297)Gca>Aca	p.A99T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1							L-Leucine(DB00149)	CAACCTTGGGGCAGGCATGGA	0.433000													Colon(200;565 2072 24396 47922 50898)											0							SO:0001583	missense			ENST00000399069.3	1	1	hg19	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407039	0.42715	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.30448	1.53;1.53	5.51	4.54	0.55810	.	0.121669	0.56097	D	0.000037	T	0.67126	0.2860	H	0.96175	3.78	0.54753	D	0.999981	D;D	0.89917	0.998;1.0	D;D	0.81914	0.982;0.995	T	0.78339	-0.2242	10	0.87932	D	0	-16.1964	13.5204	0.61563	0.0:0.0:0.8429:0.1571	.	99;99	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	99;99;116	ENSP00000382021:A99T;ENSP00000370353:A99T	ENSP00000370349:A116T	A	+	1	0	LCMT1	25051313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.941000	0.75922	1.312000	0.45043	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	1	0	1	30	137	0	33	1	1	50	124	0	33	2		0	0	0	0	0	2	1	1	30	134	0	33	2								-3.460978	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
LCMT1	51451	broad.mit.edu	37	16	25189343	25189343	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25189343A>G	ENST00000399069.3	+	11	1159	c.1004A>G	c.(1003-1005)tAa>tGa	p.*335*	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.*280*	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1							L-Leucine(DB00149)	ATAACTTATTAATCTGTCGAA	0.607000													Colon(200;565 2072 24396 47922 50898)											0							SO:0001819	synonymous_variant			ENST00000399069.3	0	1	hg19	CCDS45445.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	1	0	1	90	360	0	80	1	1	47	62	0	80	2		0	0	0	0	0	2	1	1	90	352	0	79	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTN3	4917	broad.mit.edu	37	16	2522417	2522417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522417G>A	ENST00000293973.1	+	1	918	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3			7					CATGGAGGCCGTCGTCCCTTA	0.657000																								0							SO:0001583	missense			ENST00000293973.1	1	1	hg19	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	g	1.169	-0.641649	0.03531	.	.	ENSG00000162068	ENST00000293973	T	0.75154	-0.91	3.94	-1.18	0.09617	Laminin, N-terminal (3);	1.578620	0.03511	N	0.219615	T	0.56645	0.1999	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.37606	T	0.19	.	5.5086	0.16868	0.4158:0.2571:0.3271:0.0	.	239	O00634	NET3_HUMAN	I	239	ENSP00000293973:V239I	ENSP00000293973:V239I	V	+	1	0	NTN3	2462418	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.177000	0.03096	-0.993000	0.03467	-4.718000	0.00003	GTC		TCGA-IB-7651-01A-11D-2154-08	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	1	0	1	73	306	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	73	299	0	75	2								-20.000000	1	1	121204	1	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTN3	4917	broad.mit.edu	37	16	2522741	2522741	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522741A>C	ENST00000293973.1	+	2	1171	c.968A>C	c.(967-969)aAc>aCc	p.N323T	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3			7					TGCCGCTTCAACATGGAGCTG	0.697000																								0							SO:0001583	missense			ENST00000293973.1	1	1	hg19	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593810	0.46214	.	.	ENSG00000162068	ENST00000293973	T	0.63255	-0.03	4.52	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.82220	-0.0565	10	0.87932	D	0	.	11.8131	0.52194	1.0:0.0:0.0:0.0	.	323	O00634	NET3_HUMAN	T	323	ENSP00000293973:N323T	ENSP00000293973:N323T	N	+	2	0	NTN3	2462742	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.086000	0.94088	1.687000	0.51057	0.254000	0.18369	AAC		TCGA-IB-7651-01A-11D-2154-08	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	1	0	0	71	808	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	55	653	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.770000	1.000000	1.000000	0.952733	0.990000	1	8.700000e-01	1
AQP8	343	broad.mit.edu	37	16	25228637	25228637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25228637G>A	ENST00000219660.5	+	2	256	c.131G>A	c.(130-132)gGc>gAc	p.G44D	AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8			16					GAACTGCTGGGCTCTGCTCTC	0.622000																								0							SO:0001583	missense			ENST00000219660.5	1	1	hg19	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850675	0.91277	.	.	ENSG00000103375	ENST00000219660	D	0.96856	-4.15	5.52	5.52	0.82312	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	10	0.87932	D	0	-18.2355	18.0064	0.89211	0.0:0.0:1.0:0.0	.	44	O94778	AQP8_HUMAN	D	44	ENSP00000219660:G44D	ENSP00000219660:G44D	G	+	2	0	AQP8	25136138	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.267000	0.95665	2.595000	0.87683	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	0	0	1	288	1232	0	222	0	8.595552e-01	0	17	0	222	2		0	0	0	0	0	2	1	1	283	1213	0	217	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTN3	4917	broad.mit.edu	37	16	2523431	2523431	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2523431C>A	ENST00000293973.1	+	5	1523	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3			7					TCTACCCAGACTGTGACTCGC	0.622000																								0							SO:0001630	splice_region_variant			ENST00000293973.1	1	0	hg19	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	1.358	-0.589449	0.03799	.	.	ENSG00000162068	ENST00000293973	T	0.30182	1.54	3.67	1.15	0.20763	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.126926	0.50627	D	0.000104	T	0.13500	0.0327	N	0.19112	0.55	0.52099	D	0.999941	B	0.20780	0.048	B	0.15484	0.013	T	0.19910	-1.0291	10	0.05436	T	0.98	.	7.6096	0.28122	0.0:0.6439:0.0:0.3561	.	440	O00634	NET3_HUMAN	E	440	ENSP00000293973:D440E	ENSP00000293973:D440E	D	+	3	2	NTN3	2463432	0.468000	0.25839	0.953000	0.39169	0.345000	0.29048	0.001000	0.13038	0.547000	0.28938	0.306000	0.20318	GAC		TCGA-IB-7651-01A-11D-2154-08	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	0	0	1	150	736	1	180	0	0	0	1	1	180	2		0	0	0	0	0	2	1	1	149	723	1	177	17								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN2	342357	broad.mit.edu	37	16	25251325	25251325	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251325G>A	ENST00000328086.7	-	7	3519	c.2716C>T	c.(2716-2718)Cgg>Tgg	p.R906W	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2			36					TGTATTCTCCGATGTTCTCGA	0.458000																								0							SO:0001583	missense			ENST00000328086.7	1	1	hg19	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725457	0.30593	.	.	ENSG00000155592	ENST00000328086	T	0.18810	2.19	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.438734	0.20673	N	0.087800	T	0.39937	0.1097	M	0.87682	2.9	0.26774	N	0.969735	D;D	0.67145	0.993;0.996	P;P	0.51101	0.545;0.659	T	0.47114	-0.9142	10	0.48119	T	0.1	-5.7995	12.3085	0.54915	0.0:0.1697:0.8303:0.0	.	702;906	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	906	ENSP00000331626:R906W	ENSP00000331626:R906W	R	-	1	2	ZKSCAN2	25158826	0.905000	0.30787	0.563000	0.28383	0.023000	0.10783	1.766000	0.38491	2.824000	0.97209	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	1	0	1	77	271	0	59	1	8.958759e-01	7	9	0	59	2		0	0	0	0	0	2	1	1	77	263	0	58	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN2	342357	broad.mit.edu	37	16	25251415	25251415	+	Missense_Mutation	SNP	C	C	T	rs146263630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251415C>T	ENST00000328086.7	-	7	3429	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2			36					CTCCGGTGGGCGCTGAAATGA	0.453000																								0							SO:0001583	missense			ENST00000328086.7	1	1	hg19	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425613	0.25639	2.28E-4	6.98E-4	ENSG00000155592	ENST00000328086	T	0.18174	2.23	5.64	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.304622	0.28853	N	0.013939	T	0.06826	0.0174	N	0.04805	-0.155	0.29489	N	0.855764	B;B	0.23591	0.088;0.043	B;B	0.12837	0.008;0.006	T	0.24012	-1.0172	10	0.17832	T	0.49	-4.8782	6.3209	0.21217	0.0:0.7123:0.1851:0.1026	.	672;876	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	876	ENSP00000331626:A876T	ENSP00000331626:A876T	A	-	1	0	ZKSCAN2	25158916	0.000000	0.05858	0.998000	0.56505	0.465000	0.32709	-0.883000	0.04170	1.534000	0.49203	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	1	0	1	88	294	0	66	1	6.492684e-01	2	7	0	66	2		0	0	0	0	0	2	1	1	87	287	0	62	2								-3.028677	1	0	121412	74	50	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN2	342357	broad.mit.edu	37	16	25255541	25255541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25255541G>A	ENST00000328086.7	-	6	2349	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2			36					TCATAAAACCGAGTCTCACGG	0.483000																								0							SO:0001583	missense			ENST00000328086.7	1	1	hg19	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021567	0.75275	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.48836	0.8	5.48	4.53	0.55603	SANT domain, DNA binding (1);	0.122880	0.38272	N	0.001742	T	0.42944	0.1225	L	0.53249	1.67	0.36416	D	0.864056	B;B	0.22346	0.04;0.068	B;B	0.19946	0.027;0.027	T	0.52290	-0.8595	10	0.66056	D	0.02	-6.1889	10.6188	0.45467	0.0887:0.0:0.9113:0.0	.	312;516	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	516	ENSP00000331626:R516W	ENSP00000331626:R516W	R	-	1	2	ZKSCAN2	25163042	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.457000	0.53007	1.456000	0.47831	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	1	0	1	100	394	0	64	0	6.325872e-01	0	10	0	64	2		0	0	0	0	0	2	1	1	100	384	0	63	2								-3.247208	1	1	121412	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN2	342357	broad.mit.edu	37	16	25258585	25258585	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25258585A>C	ENST00000328086.7	-	5	1735	c.932T>G	c.(931-933)gTt>gGt	p.V311G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2			36					AATAGCATGAACTGACTTTTC	0.473000																								0							SO:0001583	missense			ENST00000328086.7	1	1	hg19	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	7.519	0.656243	0.14580	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07444	3.19	5.76	3.34	0.38264	.	0.246896	0.28241	N	0.016079	T	0.10895	0.0266	L	0.38175	1.15	0.52099	D	0.999948	B;P;B	0.51791	0.0;0.948;0.001	B;P;B	0.53861	0.001;0.736;0.003	T	0.13019	-1.0525	10	0.38643	T	0.18	-10.3527	5.4928	0.16785	0.6867:0.2218:0.0915:0.0	.	107;311;311	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	G	311	ENSP00000331626:V311G	ENSP00000331626:V311G	V	-	2	0	ZKSCAN2	25166086	0.001000	0.12720	0.920000	0.36463	0.744000	0.42396	0.351000	0.20096	1.109000	0.41680	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	1	0	1	73	355	0	72	1	8.927045e-01	4	17	0	72	2		0	0	0	0	0	2	1	1	73	350	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMDHD2	51005	broad.mit.edu	37	16	2570854	2570854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2570854G>A	ENST00000293971.6	+	2	262	c.168G>A	c.(166-168)cgG>cgA	p.R56R	AMDHD2_ENST00000413459.3_Silent_p.R56R|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000302956.4_Silent_p.R56R	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2			19					ACGAGCGGCGGGACTGCGGGG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000293971.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	1	0	0	84	325	0	44	1	9.995879e-01	13	34	0	44	2		0	0	0	0	0	2	1	1	82	306	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEMP1	752014	broad.mit.edu	37	16	2580903	2580903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2580903C>T	ENST00000567119.1	-	1	506	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000382350.1_Missense_Mutation_p.A58T	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1			2					TTGACGGCCGCGCACCCCTTA	0.662000																								0							SO:0001583	missense			ENST00000567119.1	1	1	hg19	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	3.638	-0.074199	0.07184	0.0	1.2E-4	ENSG00000205923	ENST00000382350	T	0.55052	0.54	1.3	-2.59	0.06209	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09530	-1.0670	9	0.87932	D	0	.	3.6591	0.08232	0.0:0.467:0.2191:0.3139	.	58	Q6PRD7	CEMP1_HUMAN	T	58	ENSP00000371787:A58T	ENSP00000371787:A58T	A	-	1	0	CEMP1	2520904	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.467000	0.00229	-1.585000	0.01634	-1.567000	0.00876	GCG		TCGA-IB-7651-01A-11D-2154-08	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	0	0	0	66	251	1	57	1	9.477454e-01	12	30	1	57	5		0	0	0	0	0	2	1	1	65	249	1	55	18								-3.693075	1	1	120934	5	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL4R	3566	broad.mit.edu	37	16	27373988	27373988	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27373988A>G	ENST00000395762.2	+	11	1574	c.1315A>G	c.(1315-1317)Acg>Gcg	p.T439A	IL4R_ENST00000543915.2_Missense_Mutation_p.T439A|IL4R_ENST00000380922.3_Missense_Mutation_p.T424A|IL4R_ENST00000170630.2_Missense_Mutation_p.T439A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor			33					TTCGGGAAGTACGAGTGCTCA	0.612000																								0							SO:0001583	missense			ENST00000395762.2	1	1	hg19	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	1.427	-0.571301	0.03882	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.2	-7.59	0.01308	.	9.612440	0.00166	N	0.000001	T	0.02970	0.0088	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.39502	-0.9611	10	0.08599	T	0.76	-16.6382	7.3258	0.26555	0.5114:0.3494:0.1392:0.0	.	424;439;439	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	439;439;424;439	ENSP00000379111:T439A;ENSP00000441667:T439A;ENSP00000370309:T424A;ENSP00000170630:T439A	ENSP00000170630:T439A	T	+	1	0	IL4R	27281489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.440000	0.02412	-1.278000	0.02408	-0.408000	0.06270	ACG		TCGA-IB-7651-01A-11D-2154-08	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4	1	0	0	19	452	0	74	1	9.925144e-01	4	184	0	74	2		0	0	0	0	0	2	1	9.999893e-01	19	443	0	71	2								-18.875930	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.520000	0.310000	1.000000	0.480000	0.589511	0.520000	0	4.000000e-01	1
IL21R	50615	broad.mit.edu	37	16	27460438	27460438	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27460438G>A	ENST00000337929.3	+	9	1924	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	IL21R_ENST00000395755.1_Missense_Mutation_p.G484D|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D|IL21R_ENST00000395754.4_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor			8					CCCCTGGCCGGCCTGGATATG	0.677000			T	BCL6	NHL										Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0							SO:0001583	missense			ENST00000337929.3	1	1	hg19	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359155	0.61403	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.15372	2.43;2.43;2.43	4.9	3.93	0.45458	.	0.231408	0.37437	N	0.002082	T	0.28400	0.0702	M	0.63428	1.95	0.34257	D	0.67947	D	0.57571	0.98	P	0.53649	0.731	T	0.43940	-0.9360	10	0.49607	T	0.09	-30.5288	10.9479	0.47312	0.0:0.2238:0.7762:0.0	.	484	Q9HBE5	IL21R_HUMAN	D	484	ENSP00000338010:G484D;ENSP00000379104:G484D;ENSP00000379103:G484D	ENSP00000338010:G484D	G	+	2	0	IL21R	27367939	0.954000	0.32549	0.979000	0.43373	0.803000	0.45373	2.135000	0.42112	1.013000	0.39391	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	1	0	0	34	342	0	61	0	2.010066e-01	0	9	0	61	2		0	0	0	0	0	2	1	1	32	337	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.780000	1.000000	1.000000	0.975170	0.990000	1	9.300000e-01	1
GTF3C1	2975	broad.mit.edu	37	16	27473805	27473805	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27473805T>C	ENST00000356183.4	-	36	5942	c.5927A>G	c.(5926-5928)gAc>gGc	p.D1976G	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa			80					ACTCTCACAGTCCCTGCAGGG	0.627000																								0							SO:0001583	missense			ENST00000356183.4	1	1	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	t	5.628	0.300635	0.10678	.	.	ENSG00000077235	ENST00000356183	T	0.24723	1.84	4.38	1.54	0.23209	.	0.378699	0.22030	N	0.065608	T	0.15176	0.0366	L	0.42245	1.32	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.13407	0.004;0.009	T	0.23297	-1.0192	10	0.19590	T	0.45	-13.5801	1.1587	0.01801	0.1567:0.139:0.3214:0.3829	.	1976;1951	Q12789;Q12789-3	TF3C1_HUMAN;.	G	1976	ENSP00000348510:D1976G	ENSP00000348510:D1976G	D	-	2	0	GTF3C1	27381306	0.957000	0.32711	0.044000	0.18714	0.126000	0.20510	0.834000	0.27518	0.062000	0.16340	-0.663000	0.03849	GAC		TCGA-IB-7651-01A-11D-2154-08	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	1	17	133	0	35	1	9.996256e-01	23	84	0	35	2		0	0	0	0	0	2	1	9.999735e-01	17	132	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.850000	1.000000	1.000000	0.991244	0.990000	1	9.900000e-01	1
GTF3C1	2975	broad.mit.edu	37	16	27481690	27481690	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27481690G>T	ENST00000356183.4	-	31	4568	c.4553C>A	c.(4552-4554)aCc>aAc	p.T1518N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa			80					CGTGCAGATGGTGCTTGGAAA	0.498000																								0							SO:0001583	missense			ENST00000356183.4	1	1	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658758	0.67586	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22945	1.93	5.57	5.57	0.84162	.	0.120412	0.64402	D	0.000017	T	0.38108	0.1028	M	0.65975	2.015	0.31874	N	0.619404	P;D	0.53312	0.732;0.959	B;P	0.48030	0.202;0.564	T	0.42965	-0.9420	10	0.33940	T	0.23	-12.9464	19.1631	0.93543	0.0:0.0:1.0:0.0	.	1518;1518	Q12789;Q12789-3	TF3C1_HUMAN;.	N	1518;1514	ENSP00000348510:T1518N	ENSP00000348510:T1518N	T	-	2	0	GTF3C1	27389191	1.000000	0.71417	0.822000	0.32727	0.979000	0.70002	6.373000	0.73128	2.618000	0.88619	0.591000	0.81541	ACC		TCGA-IB-7651-01A-11D-2154-08	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	0	0	0	28	924	0	196	0	7.210910e-01	0	85	0	196	2		0	0	0	0	0	2	1	1	27	904	0	194	2								-3.527369	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.370000	0.240000	1.000000	0.350000	0.474190	0.370000	0	2.900000e-01	1
GTF3C1	2975	broad.mit.edu	37	16	27495625	27495625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27495625G>A	ENST00000356183.4	-	25	3923	c.3908C>T	c.(3907-3909)gCc>gTc	p.A1303V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1303V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa			80					TTCAAACGTGGCATGCAAAAT	0.468000																								0							SO:0001583	missense			ENST00000356183.4	0	1	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586325	0.46110	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24723	1.84	5.91	3.88	0.44766	.	0.545009	0.19901	N	0.103513	T	0.31544	0.0800	L	0.60455	1.87	0.09310	N	1	P;P	0.51449	0.945;0.868	P;P	0.47528	0.549;0.526	T	0.08953	-1.0697	10	0.39692	T	0.17	-3.1335	11.8013	0.52128	0.0:0.2493:0.6215:0.1292	.	1303;1303	Q12789;Q12789-3	TF3C1_HUMAN;.	V	1303;1299	ENSP00000348510:A1303V	ENSP00000348510:A1303V	A	-	2	0	GTF3C1	27403126	0.735000	0.28153	0.001000	0.08648	0.577000	0.36160	4.116000	0.57871	0.777000	0.33496	-0.176000	0.13171	GCC		TCGA-IB-7651-01A-11D-2154-08	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	0	0	0	10	287	0	70	1	6.655275e-01	6	59	0	70	2		0	0	0	0	0	2	1	9.965090e-01	10	278	0	69	2								-10.808540	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.450000	0.220000	1.000000	0.390000	0.533573	0.450000	0	3.100000e-01	1
GTF3C1	2975	broad.mit.edu	37	16	27500951	27500951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27500951G>A	ENST00000356183.4	-	20	3280	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa			80					GCGCACTTGCGCTCCAGGTTG	0.667000																								0							SO:0001583	missense			ENST00000356183.4	0	1	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552817	0.86127	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26373	1.74	5.05	5.05	0.67936	.	0.257040	0.39475	N	0.001348	T	0.49474	0.1559	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	P;D	0.65874	0.8;0.939	T	0.52852	-0.8520	10	0.72032	D	0.01	.	16.2195	0.82251	0.0:0.0:1.0:0.0	.	1089;1089	Q12789;Q12789-3	TF3C1_HUMAN;.	C	1089;1087	ENSP00000348510:R1089C	ENSP00000348510:R1089C	R	-	1	0	GTF3C1	27408452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.005000	0.57075	2.351000	0.79841	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	1	20	85	0	12	1	9.998732e-01	15	54	0	12	2		0	0	0	0	0	2	1	9.999975e-01	20	84	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
GTF3C1	2975	broad.mit.edu	37	16	27503771	27503771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27503771G>A	ENST00000356183.4	-	19	3054	c.3039C>T	c.(3037-3039)aaC>aaT	p.N1013N	GTF3C1_ENST00000561623.1_Silent_p.N1013N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa			80					TGCGGGCCAGGTTGTAATGTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000356183.4	1	1	hg19	CCDS32414.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	0	87	435	0	90	1	9.999979e-01	7	88	0	90	2		0	0	0	0	0	2	1	1	84	433	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTF3C1	2975	broad.mit.edu	37	16	27506672	27506672	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27506672G>A	ENST00000356183.4	-	15	2507	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa			80					CTGCTTTATCGTTCTCCGTTC	0.602000																								0							SO:0001583	missense			ENST00000356183.4	1	1	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142122	0.37825	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25579	1.79	5.55	-8.25	0.01025	.	1.765350	0.02242	N	0.065889	T	0.17577	0.0422	L	0.50333	1.59	0.09310	N	1	B;B	0.22211	0.039;0.066	B;B	0.15484	0.006;0.013	T	0.24799	-1.0150	10	0.56958	D	0.05	-10.6773	0.692	0.00893	0.3206:0.1841:0.3077:0.1876	.	831;831	Q12789;Q12789-3	TF3C1_HUMAN;.	M	831;829	ENSP00000348510:T831M	ENSP00000348510:T831M	T	-	2	0	GTF3C1	27414173	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.124000	0.01318	-1.048000	0.03238	-0.152000	0.13540	ACG		TCGA-IB-7651-01A-11D-2154-08	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	1	0	1	38	238	0	55	0	9.892364e-01	0	47	0	55	2		0	0	0	0	0	2	1	1	38	236	0	52	2								-3.320620	1	1	121412	1	37	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999950	0.990000	1	9.900000e-01	1
KIAA0556	23247	broad.mit.edu	37	16	27642431	27642431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27642431G>A	ENST00000261588.4	+	5	375	c.356G>A	c.(355-357)aGa>aAa	p.R119K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556			76					GAAGCCTTAAGACGCAGTTCA	0.552000																								0							SO:0001583	missense			ENST00000261588.4	0	1	hg19	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747245	0.15710	.	.	ENSG00000047578	ENST00000261588	T	0.47528	0.84	4.87	4.87	0.63330	.	0.674959	0.13056	N	0.417256	T	0.41073	0.1143	L	0.55103	1.725	0.25739	N	0.985187	P	0.41450	0.75	B	0.36808	0.233	T	0.32693	-0.9897	10	0.09338	T	0.73	-4.875	14.9347	0.70944	0.0:0.0:1.0:0.0	.	119	O60303	K0556_HUMAN	K	119	ENSP00000261588:R119K	ENSP00000261588:R119K	R	+	2	0	KIAA0556	27549932	0.995000	0.38212	0.288000	0.24862	0.198000	0.23893	5.066000	0.64351	2.241000	0.73720	0.455000	0.32223	AGA		TCGA-IB-7651-01A-11D-2154-08	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	1	0	1	9	22	0	9	1	9.992205e-01	12	29	0	9	2		0	0	0	0	0	2	1	9.959384e-01	9	21	0	9	2								-19.885600	1	1	120248	7	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999685	0.990000	1	9.900000e-01	1
KIAA0556	23247	broad.mit.edu	37	16	27751850	27751850	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27751850C>A	ENST00000261588.4	+	15	2251	c.2232C>A	c.(2230-2232)atC>atA	p.I744I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556			76					GCAGAAAAATCTGTGAGCCAC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000261588.4	1	1	hg19	CCDS32415.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	1	0	1	141	481	0	127	1	9.997140e-01	8	35	0	127	2		0	0	0	0	0	2	1	1	136	473	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0556	23247	broad.mit.edu	37	16	27789047	27789047	+	Silent	SNP	C	C	T	rs113619157	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27789047C>T	ENST00000261588.4	+	26	4687	c.4668C>T	c.(4666-4668)acC>acT	p.T1556T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556			76					TCCTCTTCACCGAGGACAGGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000261588.4	1	0	hg19	CCDS32415.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	0	0	1	103	419	0	93	1	9.988202e-01	13	30	0	93	2		0	0	0	0	0	2	1	1	103	416	0	91	2								-2.625994	1	1	121412	99	53	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSG1L	146395	broad.mit.edu	37	16	27818817	27818817	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27818817A>T	ENST00000447459.2	-	6	973	c.889T>A	c.(889-891)Tac>Aac	p.Y297N	GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N|GSG1L_ENST00000380898.2_Missense_Mutation_p.Y160N|GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like			17					CGGGCAGGGTATCTCTCGTGG	0.512000																								0							SO:0001583	missense			ENST00000447459.2	1	1	hg19	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447450	0.25987	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.39056	1.2;1.1	3.81	2.71	0.32032	.	0.845752	0.10437	N	0.674780	T	0.32585	0.0834	N	0.19112	0.55	0.29055	N	0.884258	P;P;P	0.50528	0.936;0.891;0.808	P;P;B	0.48227	0.534;0.571;0.212	T	0.14117	-1.0484	10	0.45353	T	0.12	.	6.0671	0.19870	0.8844:0.0:0.1156:0.0	.	246;160;297	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	297;246;160;142	ENSP00000394954:Y297N;ENSP00000379074:Y246N	ENSP00000370282:Y142N	Y	-	1	0	GSG1L	27726318	1.000000	0.71417	0.847000	0.33407	0.620000	0.37586	1.654000	0.37334	0.816000	0.34421	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	1	0	1	23	101	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999996e-01	22	98	0	28	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
GSG1L	146395	broad.mit.edu	37	16	27840187	27840187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27840187C>A	ENST00000447459.2	-	5	837	c.753G>T	c.(751-753)aaG>aaT	p.K251N	GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N|GSG1L_ENST00000380898.2_Missense_Mutation_p.K96N|GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like			17					AGACCTTGCGCTTGTGCCGGA	0.592000																								0							SO:0001583	missense			ENST00000447459.2	1	1	hg19	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440517	0.63067	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.35421	1.31;1.31	5.24	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.40543	1.245	0.51233	D	0.999918	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.973;0.982;0.991	T	0.20107	-1.0285	10	0.42905	T	0.14	3.1709	6.2651	0.20922	0.0:0.5726:0.14:0.2874	.	200;96;251	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	N	251;200;96;96	ENSP00000394954:K251N;ENSP00000379074:K200N	ENSP00000370282:K96N	K	-	3	2	GSG1L	27747688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.093000	0.41710	0.539000	0.28788	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	1	0	1	54	255	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	52	251	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSG1L	146395	broad.mit.edu	37	16	27856320	27856320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27856320C>T	ENST00000447459.2	-	4	697	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S|GSG1L_ENST00000380898.2_Missense_Mutation_p.G50S|GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like			17					TCCTCAGGACCGAGGCTCACG	0.597000																								0							SO:0001583	missense			ENST00000447459.2	1	1	hg19	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699849	0.96802	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T;D;D	0.87571	0.96;1.16;-2.27;-2.27	5.25	5.25	0.73442	.	0.057467	0.64402	D	0.000002	D	0.93262	0.7853	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93950	0.7231	10	0.87932	D	0	-6.9936	17.6218	0.88084	0.0:1.0:0.0:0.0	.	154;50;205	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	S	205;154;50;50	ENSP00000394954:G205S;ENSP00000379074:G154S;ENSP00000370283:G50S;ENSP00000370282:G50S	ENSP00000370282:G50S	G	-	1	0	GSG1L	27763821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.496000	0.81526	2.460000	0.83146	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	1	0	1	21	96	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999981e-01	20	92	0	22	2								-20.000000	1	1	121412	2	32	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
SRRM2	23524	broad.mit.edu	37	16	2812144	2812144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812144C>T	ENST00000301740.8	+	11	2164	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2			105					GTCTCCTCAGCGACCAGGCTG	0.607000																								0							SO:0001587	stop_gained			ENST00000301740.8	0	1	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147204	0.97324	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	.	.	.	5.91	1.33	0.21861	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4156	13.596	0.61991	0.5421:0.4579:0.0:0.0	.	.	.	.	X	539;539;504	.	ENSP00000301740:R539X	R	+	1	2	SRRM2	2752145	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.373000	0.20484	0.330000	0.23485	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	1	0	0	28	274	0	61	1	9.999895e-01	7	172	0	61	2		0	0	0	0	0	2	1	1	27	266	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.770000	1.000000	1.000000	0.976351	0.990000	1	9.400000e-01	1
SRRM2	23524	broad.mit.edu	37	16	2812267	2812267	+	Missense_Mutation	SNP	C	C	T	rs146283035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812267C>T	ENST00000301740.8	+	11	2287	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2			105					AACACCAGCCCGCCGGGGCAG	0.612000																								0							SO:0001583	missense			ENST00000301740.8	1	1	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807616	0.31961	0.0	1.16E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29397	1.57	5.91	-0.722	0.11184	.	0.000000	0.56097	D	0.000033	T	0.39332	0.1074	L	0.27053	0.805	0.22171	N	0.999313	D	0.89917	1.0	D	0.80764	0.994	T	0.46048	-0.9219	10	0.87932	D	0	-8.7656	15.3162	0.74081	0.6804:0.3196:0.0:0.0	.	580	Q9UQ35	SRRM2_HUMAN	C	580;580;545	ENSP00000301740:R580C	ENSP00000301740:R580C	R	+	1	0	SRRM2	2752268	0.020000	0.18652	0.280000	0.24747	0.992000	0.81027	0.103000	0.15292	-0.044000	0.13491	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	1	0	0	13	215	0	49	1	9.900131e-01	8	122	0	49	2		0	0	0	0	0	2	1	9.994672e-01	13	207	0	48	2								-3.022094	1	1	121408	3	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.740000	0.400000	1.000000	1.000000	0.759732	0.740000	0	5.400000e-01	1
SRRM2	23524	broad.mit.edu	37	16	2815936	2815936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2815936C>T	ENST00000301740.8	+	11	5956	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2			105					GCGAAGACAGCGGAGCCGGTC	0.602000																								0							SO:0001583	missense			ENST00000301740.8	1	1	hg19	CCDS32373.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.025	0.985903	0.18889	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39056	1.1	5.46	3.3	0.37823	.	0.000000	0.56097	D	0.000032	T	0.41419	0.1158	N	0.08118	0	0.32718	N	0.510672	D	0.89917	1.0	D	0.77557	0.99	T	0.55483	-0.8134	10	0.62326	D	0.03	-9.0486	10.9653	0.47408	0.4254:0.5746:0.0:0.0	.	1803	Q9UQ35	SRRM2_HUMAN	W	1803;1803;1055	ENSP00000301740:R1803W	ENSP00000301740:R1803W	R	+	1	2	SRRM2	2755937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.904000	0.28491	0.479000	0.27511	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	1	0	1	48	222	0	38	1	1	60	302	0	38	2		0	0	0	0	0	2	1	1	47	217	0	35	2								-3.315749	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPO6	23214	broad.mit.edu	37	16	28167624	28167624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28167624C>T	ENST00000304658.5	-	7	1368	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.A276T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6			25					TTAACTGACGCCATCTTTCTG	0.567000																								0							SO:0001583	missense			ENST00000304658.5	1	1	hg19	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471401	0.43942	.	.	ENSG00000169180	ENST00000304658	T	0.47177	0.85	5.87	5.87	0.94306	Armadillo-type fold (1);	0.149306	0.64402	D	0.000008	T	0.29716	0.0742	N	0.08118	0	0.46981	D	0.999273	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12243	-1.0555	10	0.15066	T	0.55	-10.5702	18.0718	0.89410	0.0:1.0:0.0:0.0	.	290;290	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	290	ENSP00000302790:A290T	ENSP00000302790:A290T	A	-	1	0	XPO6	28075125	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.049000	0.41288	2.941000	0.99782	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	1	0	1	98	358	0	92	1	1	28	81	0	92	2		0	0	0	0	0	2	1	1	97	348	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRRM2	23524	broad.mit.edu	37	16	2817777	2817777	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2817777A>C	ENST00000301740.8	+	11	7797	c.7248A>C	c.(7246-7248)caA>caC	p.Q2416H	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2			105					CCCCAAGCCAATCTAGGATGA	0.607000																								0							SO:0001583	missense			ENST00000301740.8	1	1	hg19	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281883	0.23392	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79247	-1.25	5.91	-0.206	0.13193	.	0.095774	0.46442	N	0.000283	T	0.58148	0.2102	N	0.19112	0.55	0.26150	N	0.980158	B	0.06786	0.001	B	0.04013	0.001	T	0.50004	-0.8878	10	0.62326	D	0.03	-2.6915	6.4015	0.21640	0.3947:0.1244:0.4809:0.0	.	2416	Q9UQ35	SRRM2_HUMAN	H	2416;1668	ENSP00000301740:Q2416H	ENSP00000301740:Q2416H	Q	+	3	2	SRRM2	2757778	1.000000	0.71417	0.986000	0.45419	0.622000	0.37654	0.476000	0.22180	-0.086000	0.12550	-0.119000	0.15052	CAA		TCGA-IB-7651-01A-11D-2154-08	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	1	0	1	69	334	0	83	1	1	138	307	0	83	2		0	0	0	0	0	2	1	1	65	321	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCEB2	6923	broad.mit.edu	37	16	2822078	2822078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2822078G>A	ENST00000409906.4	-	4	327	c.270C>T	c.(268-270)atC>atT	p.I90I	TCEB2_ENST00000262306.7_Silent_p.I90I|TCEB2_ENST00000572954.1_Missense_Mutation_p.S55L|TCEB2_ENST00000409477.1_Silent_p.I85I|AC092117.2_ENST00000581119.1_RNA	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	p.I90I(1)		3					AAAACGGCTCGATGCACAGGG	0.612000													GBM(141;5215 5962)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000409906.4	1	1	hg19	CCDS45387.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	0	0	1	13	165	0	30	1	1	316	1707	0	30	2		0	0	0	0	0	2	1	9.995486e-01	13	162	0	29	2								-17.386590	1	1	121402	12	37	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.950000	0.510000	1.000000	1.000000	0.879363	0.950000	1	7.000000e-01	1
SBK1	388228	broad.mit.edu	37	16	28331401	28331401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28331401G>A	ENST00000341901.4	+	4	1223	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1			5					CCGCAGGTGGGGCTCCCTGAG	0.711000																								0							SO:0001583	missense			ENST00000341901.4	1	1	hg19	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577179	0.86645	.	.	ENSG00000188322	ENST00000341901	T	0.22336	1.96	4.17	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45264	-0.9273	10	0.40728	T	0.16	-27.0193	13.9542	0.64137	0.0:0.0:1.0:0.0	.	145	Q52WX2	SBK1_HUMAN	E	145	ENSP00000343248:G145E	ENSP00000343248:G145E	G	+	2	0	SBK1	28238902	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.561000	0.98142	1.846000	0.53633	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	1	0	0	15	47	0	12	1	6.821046e-01	4	5	0	12	2		0	0	0	0	0	2	1	9.999323e-01	15	46	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
CLN3	1201	broad.mit.edu	37	16	28493652	28493652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28493652G>A	ENST00000569430.1	-	14	1777	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000359984.7_Missense_Mutation_p.R320C|CLN3_ENST00000333496.9_Missense_Mutation_p.R296C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3			15					TCTTACCAGCGGTATTGCTGA	0.617000																								0							SO:0001583	missense			ENST00000569430.1	1	1	hg19	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	g	19.98	3.926431	0.73327	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;T;D	0.94138	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;-3.36	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.88640	2.97	0.49130	D	0.99975	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.997;1.0;0.998;1.0	D	0.97495	1.0056	10	0.59425	D	0.04	.	16.6881	0.85315	0.0:0.0:1.0:0.0	.	296;303;218;220;266;272;320;221	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	C	242;320;320;303;272;266;220;221;210	ENSP00000443221:R242C;ENSP00000353073:R320C;ENSP00000353116:R320C;ENSP00000346650:R303C;ENSP00000347660:R272C;ENSP00000350523:R266C;ENSP00000379014:R220C;ENSP00000350457:R221C;ENSP00000349586:R210C	ENSP00000346650:R303C	R	-	1	0	CLN3	28401153	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.748000	0.85085	2.547000	0.85894	0.486000	0.48141	CGC		TCGA-IB-7651-01A-11D-2154-08	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2	1	0	1	31	121	0	35	1	1	66	182	0	35	2		0	0	0	0	0	2	1	1	31	121	0	34	2								-20.000000	1	1	121410	2	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC101	112869	broad.mit.edu	37	16	28596992	28596992	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28596992C>T	ENST00000317058.3	+	4	362	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101			10					CCGGACAAAGCTGCGTGGCCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000317058.3	1	1	hg19	CCDS10635.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	1	0	1	74	311	0	64	1	9.999981e-01	20	63	0	64	2		0	0	0	0	0	2	1	1	73	305	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC101	112869	broad.mit.edu	37	16	28602223	28602223	+	Silent	SNP	C	C	T	rs1053570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28602223C>T	ENST00000317058.3	+	9	919	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101			10					CTACCTGCTTCTACCGCGCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000317058.3	1	1	hg19	CCDS10635.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	1	0	1	23	108	0	28	1	9.997933e-01	18	51	0	28	2		0	0	0	0	0	2	1	9.999997e-01	23	108	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
SULT1A2	6799	broad.mit.edu	37	16	28604766	28604766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28604766C>A	ENST00000395630.1	-	5	846	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2			14					AGCCCACCTTCTCCAGCCATG	0.572000																								0							SO:0001587	stop_gained			ENST00000395630.1	0	1	hg19	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	c	15.58	2.875264	0.51695	.	.	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	.	.	.	4.6	-9.2	0.00682	.	0.747635	0.12823	N	0.436265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4016	0.32590	0.0:0.1891:0.2499:0.561	.	.	.	.	X	166	.	ENSP00000338742:E166X	E	-	1	0	SULT1A2	28512267	0.002000	0.14202	0.826000	0.32828	0.145000	0.21501	-0.098000	0.11024	-1.320000	0.02283	-0.300000	0.09419	GAA		TCGA-IB-7651-01A-11D-2154-08	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	1	0	1	86	383	0	115	0	0	1	0	0	115	2		0	0	0	0	0	2	1	1	85	369	0	112	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS21	10942	broad.mit.edu	37	16	2867430	2867430	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2867430G>A	ENST00000005995.3	+	2	106		c.e2-1		PRSS21_ENST00000450020.3_Splice_Site|PRSS21_ENST00000455114.1_Splice_Site			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)			15					GTCTCCCGCAGAGTCGCAGGA	0.741000																								0							SO:0001630	splice_region_variant			ENST00000005995.3	1	1	hg19	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	10.93	1.490727	0.26686	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	.	.	.	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8718	0.46887	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS21	2807431	0.006000	0.16342	0.024000	0.17045	0.013000	0.08279	0.630000	0.24553	1.800000	0.52685	0.401000	0.26515	.		TCGA-IB-7651-01A-11D-2154-08	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	1	0	0	15	96	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999050e-01	15	95	0	23	2								-19.999960	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.980000	1.000000	1.000000	0.997189	0.990000	1	9.900000e-01	1
EIF3C	8663	broad.mit.edu	37	16	28734551	28734551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734551G>A	ENST00000331666.6	+	9	1029	c.843G>A	c.(841-843)aaG>aaA	p.K281K	EIF3C_ENST00000564243.1_Silent_p.K271K|EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000566501.1_Silent_p.K281K|EIF3C_ENST00000566866.1_Silent_p.K281K					eukaryotic translation initiation factor 3, subunit C			6					CTAAGAAGAAGCACGACAGGA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000331666.6	1	1	hg19	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	g	1.696	-0.502756	0.04261	.	.	ENSG00000184110	ENST00000395583	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0464	0.64708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3C	28642052	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	3.167000	0.50793	2.356000	0.79943	0.545000	0.68477	.		TCGA-IB-7651-01A-11D-2154-08	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	1	0	0	189	1990	0	432	1	9.324882e-01	12	37	0	432	2		0	0	0	0	0	2	1	1	183	1926	0	585	2								-20.000000	1	0	121412	1	26	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.900000	1.000000	1.000000	0.990114	0.990000	1	9.700000e-01	1
ZG16B	124220	broad.mit.edu	37	16	2880318	2880318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2880318G>T	ENST00000382280.3	+	1	149	c.70G>T	c.(70-72)Gtc>Ttc	p.V24F	ZG16B_ENST00000572863.1_5'Flank	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B			5					CAGACGCCCAGTCACAGGCGA	0.652000																								0							SO:0001583	missense			ENST00000382280.3	0	1	hg19	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	g	8.265	0.812131	0.16537	.	.	ENSG00000162078	ENST00000382280	T	0.38887	1.11	2.93	-5.85	0.02311	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999999	P	0.42908	0.793	B	0.40134	0.32	T	0.23332	-1.0191	9	0.54805	T	0.06	.	5.8272	0.18560	0.318:0.0:0.5352:0.1467	.	24	Q96DA0	ZG16B_HUMAN	F	24	ENSP00000371715:V24F	ENSP00000371715:V24F	V	+	1	0	ZG16B	2820319	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.451000	0.21779	-1.582000	0.01640	-0.360000	0.07572	GTC		TCGA-IB-7651-01A-11D-2154-08	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	0	0	0	6	107	0	23	1	9.968040e-01	5	207	0	23	2		0	0	0	0	0	2	1	9.653573e-01	6	106	0	23	2								-9.765201	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.730000	0.290000	1.000000	1.000000	0.736930	0.730000	0	4.700000e-01	1
ATXN2L	11273	broad.mit.edu	37	16	28837664	28837664	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28837664T>G	ENST00000336783.4	+	5	736	c.569T>G	c.(568-570)gTc>gGc	p.V190G	ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like			36					CCAAGTGATGTCATGCTTGTT	0.507000																								0							SO:0001583	missense			ENST00000336783.4	1	1	hg19	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	28.8	4.948541	0.92593	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52057	0.7;0.68;0.69;0.7;0.69	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	T	0.64260	0.2582	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D;D	0.74023	0.969;0.929;0.982;0.982;0.969;0.969;0.982;0.969	T	0.66945	-0.5795	10	0.87932	D	0	-16.5268	15.0745	0.72066	0.0:0.0:0.0:1.0	.	190;190;190;190;190;190;190;190	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	G	190	ENSP00000341459:V190G;ENSP00000378917:V190G;ENSP00000338718:V190G;ENSP00000372133:V190G;ENSP00000315650:V190G	ENSP00000315650:V190G	V	+	2	0	ATXN2L	28745165	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.597000	0.82733	2.201000	0.70794	0.459000	0.35465	GTC		TCGA-IB-7651-01A-11D-2154-08	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	1	0	1	87	432	0	113	1	1	13	116	0	113	2		0	0	0	0	0	2	1	1	85	422	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATXN2L	11273	broad.mit.edu	37	16	28841994	28841994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28841994C>T	ENST00000336783.4	+	9	1260	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	p.R365*(2)		36					GGGAGGAGTTCGATGCAGCAG	0.612000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000336783.4	0	1	hg19	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	38	6.843414	0.97881	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.4591	13.743	0.62860	0.154:0.8459:0.0:0.0	.	.	.	.	X	365	.	ENSP00000315650:R365X	R	+	1	2	ATXN2L	28749495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.657000	0.46724	2.750000	0.94351	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	1	0	1	62	231	0	38	1	1	10	160	0	38	2		0	0	0	0	0	2	1	1	61	230	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH2B1	25970	broad.mit.edu	37	16	28877932	28877932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28877932C>T	ENST00000322610.8	+	4	956	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W|SH2B1_ENST00000337120.5_Missense_Mutation_p.R173W|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1			25					CCTGCAGTGGCGGGGGACCGT	0.642000																								0							SO:0001583	missense			ENST00000322610.8	1	1	hg19	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290829	0.59976	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.60171	0.21;0.23;0.25;0.25	4.48	3.45	0.39498	.	0.000000	0.64402	D	0.000014	T	0.57359	0.2048	N	0.19112	0.55	0.40827	D	0.98355	D;D;D	0.76494	0.986;0.999;0.99	B;D;B	0.67548	0.432;0.952;0.249	T	0.62497	-0.6842	10	0.87932	D	0	-25.0824	9.5837	0.39504	0.4051:0.5949:0.0:0.0	.	173;173;173	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	W	173	ENSP00000321221:R173W;ENSP00000352232:R173W;ENSP00000378903:R173W;ENSP00000337163:R173W	ENSP00000321221:R173W	R	+	1	2	SH2B1	28785433	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.960000	0.29253	2.055000	0.61198	0.455000	0.32223	CGG		TCGA-IB-7651-01A-11D-2154-08	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	1	0	1	135	513	0	98	1	1	30	91	0	98	2		0	0	0	0	0	2	1	1	133	435	0	76	2								-2.885172	1	1	121410	2	32	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH2B1	25970	broad.mit.edu	37	16	28883991	28883991	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28883991T>G	ENST00000322610.8	+	10	2301	c.1862T>G	c.(1861-1863)cTt>cGt	p.L621R	SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R|SH2B1_ENST00000337120.5_Missense_Mutation_p.L621R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R|SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1			25					GATGTTGTCCTTGTCAGCTAT	0.602000																								0							SO:0001583	missense			ENST00000322610.8	1	1	hg19	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	t	19.48	3.835100	0.71373	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.1	5.1	0.69264	SH2 motif (1);	0.000000	0.64402	D	0.000007	D	0.98994	0.9657	M	0.89214	3.015	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999	D	0.99694	1.1002	10	0.87932	D	0	-12.0959	13.8724	0.63626	0.0:0.0:0.0:1.0	.	285;311;621;621;621	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	R	621;311;621;285;621;621	ENSP00000321221:L621R;ENSP00000440354:L311R;ENSP00000352232:L621R;ENSP00000438784:L285R;ENSP00000378903:L621R;ENSP00000337163:L621R	ENSP00000321221:L621R	L	+	2	0	SH2B1	28791492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.370000	0.79589	1.915000	0.55452	0.456000	0.33151	CTT		TCGA-IB-7651-01A-11D-2154-08	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	1	0	0	16	318	0	54	1	9.910322e-01	13	142	0	54	2		0	0	0	0	0	2	1	9.999249e-01	15	311	0	53	2								-17.661250	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.620000	0.350000	1.000000	0.570000	0.668893	0.620000	0	4.700000e-01	1
ATP2A1	487	broad.mit.edu	37	16	28900144	28900144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28900144G>A	ENST00000357084.3	+	9	1232	c.965G>A	c.(964-966)gGt>gAt	p.G322D	ATP2A1_ENST00000395503.4_Missense_Mutation_p.G322D|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1			38					CTGGCCCTGGGTACCCGTCGG	0.602000																								0							SO:0001583	missense			ENST00000357084.3	1	1	hg19	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569331	0.86439	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.92397	-2.9;-2.9;-3.03	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99797	1.1034	10	0.87932	D	0	.	17.984	0.89151	0.0:0.0:1.0:0.0	.	197;322;322	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	D	322;322;359;197	ENSP00000349595:G322D;ENSP00000378879:G322D;ENSP00000443101:G197D	ENSP00000349595:G322D	G	+	2	0	ATP2A1	28807645	1.000000	0.71417	0.958000	0.39756	0.611000	0.37282	9.838000	0.99474	2.538000	0.85594	0.467000	0.42956	GGT		TCGA-IB-7651-01A-11D-2154-08	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	1	0	1	153	613	0	131	1	4.041707e-02	2	0	0	131	2		0	0	0	0	0	2	1	1	148	593	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2A1	487	broad.mit.edu	37	16	28913250	28913250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913250G>A	ENST00000357084.3	+	16	2434	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	ATP2A1_ENST00000395503.4_Missense_Mutation_p.G723S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1			38					CATGGGATCTGGCACTGCCGT	0.597000																								0							SO:0001583	missense			ENST00000357084.3	1	1	hg19	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311291	0.95655	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99214	-5.57;-5.57;-5.57	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.048624	0.85682	D	0.000000	D	0.99648	0.9870	H	0.97962	4.115	0.80722	D	1	D;D;D	0.58970	0.984;0.98;0.96	P;P;D	0.64042	0.796;0.835;0.921	D	0.97501	1.0060	10	0.87932	D	0	.	17.6376	0.88127	0.0:0.0:1.0:0.0	.	598;723;723	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	723;723;760;598	ENSP00000349595:G723S;ENSP00000378879:G723S;ENSP00000443101:G598S	ENSP00000349595:G723S	G	+	1	0	ATP2A1	28820751	1.000000	0.71417	0.922000	0.36590	0.900000	0.52787	9.761000	0.98940	2.460000	0.83146	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	1	0	1	44	166	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1	44	160	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2A1	487	broad.mit.edu	37	16	28913689	28913689	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913689C>T	ENST00000357084.3	+	17	2773	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R836C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1			38					GCTCTTCTTCCGCTACATGGC	0.662000																								0							SO:0001583	missense			ENST00000357084.3	1	1	hg19	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674581	0.67928	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96168	-3.93;-3.93;-3.93	4.83	3.88	0.44766	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.98766	1.0726	10	0.87932	D	0	.	12.2849	0.54788	0.0:0.9152:0.0:0.0848	.	711;836;836	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	C	836;836;711	ENSP00000349595:R836C;ENSP00000378879:R836C;ENSP00000443101:R711C	ENSP00000349595:R836C	R	+	1	0	ATP2A1	28821190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.778000	0.68940	1.250000	0.43966	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	1	0	0	45	508	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	1	44	503	0	91	2								-2.966611	1	1	121412	1	29	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.730000	1.000000	1.000000	0.948471	0.990000	1	8.600000e-01	1
RABEP2	79874	broad.mit.edu	37	16	28920040	28920040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28920040G>A	ENST00000358201.4	-	8	1723	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W|RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2			16					TCATTCAACCGCTTTACCTCA	0.607000													Pancreas(66;639 1284 10093 31061 49099)											0							SO:0001583	missense			ENST00000358201.4	1	1	hg19	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500304	0.64298	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.59083	0.29;0.29;0.29	4.78	2.71	0.32032	Rabaptin, GTPase-Rab5 binding (1);	0.305929	0.25106	N	0.033084	T	0.70202	0.3197	M	0.65498	2.005	0.34244	D	0.67799	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.73380	0.907;0.85;0.98	T	0.77046	-0.2733	10	0.87932	D	0	-22.8773	9.8174	0.40860	0.0:0.0:0.6271:0.3729	.	308;347;379	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	W	379;347;308	ENSP00000350934:R379W;ENSP00000350186:R347W;ENSP00000442798:R308W	ENSP00000350186:R347W	R	-	1	2	RABEP2	28827541	1.000000	0.71417	0.977000	0.42913	0.911000	0.54048	2.256000	0.43231	0.384000	0.24942	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	1	0	1	140	829	0	185	1	9.988358e-01	14	46	0	185	2		0	0	0	0	0	2	1	1	136	817	0	182	2								-20.000000	1	1	121006	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD19	930	broad.mit.edu	37	16	28943379	28943379	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28943379C>T	ENST00000324662.3	+	1	102	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000538922.1_Missense_Mutation_p.P20S			P15391	CD19_HUMAN	CD19 molecule			29					GGAAGTCAGGCCCGAGGAACC	0.592000																								0							SO:0001583	missense			ENST00000324662.3	1	1	hg19	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424646	0.62733	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.35789	1.29;1.29	5.24	3.16	0.36331	Immunoglobulin-like (1);	0.131330	0.35151	N	0.003401	T	0.22975	0.0555	N	0.24115	0.695	0.28910	N	0.892784	B;B	0.26672	0.129;0.156	B;B	0.30105	0.067;0.111	T	0.13072	-1.0523	10	0.49607	T	0.09	-13.4691	6.5767	0.22571	0.0:0.7214:0.1816:0.097	.	20;20	F5H635;P15391	.;CD19_HUMAN	S	20;5;20	ENSP00000437940:P20S;ENSP00000313419:P20S	ENSP00000313419:P20S	P	+	1	0	CD19	28850880	0.000000	0.05858	0.856000	0.33681	0.030000	0.12068	-0.037000	0.12164	1.212000	0.43366	0.558000	0.71614	CCC		TCGA-IB-7651-01A-11D-2154-08	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2	1	0	0	48	541	0	107	0	8.321055e-02	0	6	0	107	2		0	0	0	0	0	2	1	1	49	532	0	105	2								-3.318794	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.740000	1.000000	1.000000	0.950214	0.990000	1	8.600000e-01	1
SPNS1	83985	broad.mit.edu	37	16	28995106	28995106	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995106G>A	ENST00000311008.11	+	11	1697		c.e11-1		LAT_ENST00000354453.4_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000566177.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000565975.1_Splice_Site|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000360872.5_5'Flank|SPNS1_ENST00000323081.8_Splice_Site|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Splice_Site|SPNS1_ENST00000352260.7_Splice_Site	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)			21					TCTCCCTGCAGATCTCTGACC	0.632000																								0							SO:0001630	splice_region_variant			ENST00000311008.11	1	1	hg19	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532887	0.64972	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6705	0.68939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPNS1	28902607	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.118000	0.71583	2.308000	0.77769	0.555000	0.69702	.		TCGA-IB-7651-01A-11D-2154-08	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	1	0	1	100	511	0	101	1	3.248737e-01	5	2	0	101	2		0	0	0	0	0	2	1	1	99	497	0	99	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPNS1	83985	broad.mit.edu	37	16	28995175	28995175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995175G>A	ENST00000311008.11	+	11	1766	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	LAT_ENST00000354453.4_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000566177.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000565975.1_Silent_p.S508S|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000360872.5_5'Flank|SPNS1_ENST00000323081.8_Silent_p.S390S|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Silent_p.S411S|SPNS1_ENST00000352260.7_Silent_p.S389S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)			21					TGCAGTTCTCGCTCATGCTCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000311008.11	1	1	hg19	CCDS10646.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	1	0	1	118	565	0	96	0	1	0	148	0	96	2		0	0	0	0	0	2	1	1	116	555	0	93	2								-20.000000	1	0	121408	4	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf54	283897	broad.mit.edu	37	16	29755643	29755643	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29755643G>A	ENST00000329410.3	-	2	725	c.630C>T	c.(628-630)atC>atT	p.I210I	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54			6					AGAAAGCTGAGATCTGCTCCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000329410.3	1	1	hg19	CCDS10652.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	1	0	0	20	132	0	24	0	4.951026e-01	0	12	0	24	2		0	0	0	0	0	2	1	9.999966e-01	20	130	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.998474	0.990000	1	9.900000e-01	1
KIF22	3835	broad.mit.edu	37	16	29809753	29809753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29809753C>T	ENST00000160827.4	+	3	365	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*|KIF22_ENST00000561482.1_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22			14					AGGTTCAGTGCAGCCCATCCT	0.517000																								0							SO:0001587	stop_gained			ENST00000160827.4	0	1	hg19	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235056	0.98719	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.1845	0.48648	0.0:0.917:0.0:0.083	.	.	.	.	X	109;41	.	ENSP00000160827:Q109X	Q	+	1	0	KIF22	29717254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.063000	0.57499	2.819000	0.97034	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2	1	0	0	94	379	0	102	1	9.998192e-01	2	51	0	102	2		0	0	0	0	0	2	1	1	90	366	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF22	3835	broad.mit.edu	37	16	29810350	29810350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29810350C>T	ENST00000160827.4	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	KIF22_ENST00000400751.5_Missense_Mutation_p.R134W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000561482.1_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22			14					AGAAGACTGCCGGGGGAATAT	0.547000																								0							SO:0001583	missense			ENST00000160827.4	1	1	hg19	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757538	0.49468	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75589	-0.95;-0.95	5.95	2.57	0.30868	Kinesin, motor domain (4);	.	.	.	.	T	0.63165	0.2488	L	0.51914	1.62	0.80722	D	1	B;B	0.19706	0.007;0.038	B;B	0.17098	0.017;0.006	T	0.64084	-0.6490	9	0.56958	D	0.05	.	3.4282	0.07418	0.1625:0.4507:0.295:0.0918	.	134;202	B7Z265;Q14807	.;KIF22_HUMAN	W	202;134	ENSP00000160827:R202W;ENSP00000383562:R134W	ENSP00000160827:R202W	R	+	1	2	KIF22	29717851	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	2.876000	0.48498	1.496000	0.48567	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2	1	0	1	96	615	0	155	1	9.960689e-01	4	51	0	155	2		0	0	0	0	0	2	1	1	96	600	0	152	2								-3.142704	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRRT2	112476	broad.mit.edu	37	16	29824802	29824802	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29824802G>T	ENST00000358758.7	+	2	710	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y|PRRT2_ENST00000300797.6_Missense_Mutation_p.D143Y|AC009133.14_ENST00000569981.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2			8					TCCCCAACCAGACCCCCGGCC	0.632000																								0							SO:0001583	missense			ENST00000358758.7	1	1	hg19	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221955	0.39300	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.72051	-0.62;0.25	3.97	3.97	0.46021	.	0.778179	0.11447	N	0.563121	T	0.72415	0.3457	L	0.27053	0.805	0.34795	D	0.736158	D;D;D	0.76494	0.999;0.992;0.995	P;P;P	0.61003	0.882;0.67;0.823	T	0.76870	-0.2799	10	0.72032	D	0.01	-3.8345	11.7683	0.51943	0.0:0.0:1.0:0.0	.	143;143;143	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Y	143	ENSP00000351608:D143Y;ENSP00000300797:D143Y	ENSP00000300797:D143Y	D	+	1	0	PRRT2	29732303	0.195000	0.23338	0.993000	0.49108	0.575000	0.36095	1.338000	0.33873	2.242000	0.73789	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	1	0	1	78	228	0	59	0	2.733512e-01	0	4	0	59	2		0	0	0	0	0	2	1	1	73	223	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLYWCH1	84256	broad.mit.edu	37	16	2983257	2983257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2983257C>T	ENST00000253928.9	+	5	1328	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.A308V|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1			4					CGGGACCACGCGCTGCACGGC	0.667000																								0							SO:0001583	missense			ENST00000253928.9	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	5.962	0.361467	0.11296	0.0	1.19E-4	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.29	1.16	0.20824	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.35393	0.0930	L	0.48642	1.525	0.09310	N	1	B;D	0.61697	0.106;0.99	B;P	0.48704	0.018;0.587	T	0.16424	-1.0403	8	0.59425	D	0.04	.	7.0628	0.25135	0.0:0.6751:0.0:0.3249	.	308;307	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	V	308;308;307	.	ENSP00000253928:A308V	A	+	2	0	FLYWCH1	2923258	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.149000	0.10204	0.399000	0.25367	-0.258000	0.10820	GCG		TCGA-IB-7651-01A-11D-2154-08	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	1	0	1	24	134	0	20	1	9.998569e-01	24	59	0	20	2		0	0	0	0	0	2	1	9.999996e-01	23	125	0	20	2								-20.000000	1	1	121030	1	30	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999868	0.990000	1	9.900000e-01	1
MVP	9961	broad.mit.edu	37	16	29842323	29842323	+	Missense_Mutation	SNP	C	C	T	rs146114293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29842323C>T	ENST00000357402.5	+	3	388	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Missense_Mutation_p.R84C	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein			27					AGTTCGGCTTCGCCACGCTGA	0.632000																								0							SO:0001583	missense			ENST00000357402.5	1	1	hg19	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181939	0.78677	0.0	2.33E-4	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.35605	1.3;1.3	5.46	5.46	0.80206	.	0.156352	0.56097	D	0.000023	T	0.59959	0.2232	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.65142	-0.6240	10	0.87932	D	0	-20.0859	11.8372	0.52333	0.1749:0.8251:0.0:0.0	.	84	Q14764	MVP_HUMAN	C	84	ENSP00000349977:R84C;ENSP00000378760:R84C	ENSP00000349977:R84C	R	+	1	0	MVP	29749824	0.932000	0.31603	1.000000	0.80357	0.987000	0.75469	1.701000	0.37825	2.576000	0.86940	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	1	0	1	44	175	0	37	1	1	360	748	0	37	2		0	0	0	0	0	2	1	1	43	174	0	37	2								-3.656251	1	1	121412	23	45	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MVP	9961	broad.mit.edu	37	16	29853245	29853245	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29853245C>T	ENST00000357402.5	+	10	1584	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Silent_p.F482F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein			27					GCGTGGTCTTCGGGCCTGAGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000357402.5	1	1	hg19	CCDS10656.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	0	0	1	50	203	1	43	1	1	342	633	1	43	56		0	0	0	0	0	2	1	9.999815e-01	50	199	1	42	19								-20.000000	1	1	121412	17	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDIPT	10423	broad.mit.edu	37	16	29870526	29870526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29870526C>T	ENST00000219789.6	-	6	1504	c.626G>A	c.(625-627)cGc>cAc	p.R209H	CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000567459.1_5'UTR|CDIPT_ENST00000566113.1_Missense_Mutation_p.R164H|CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase			4					CTTCTTGGCGCGGTCTGCTGC	0.667000																								0							SO:0001583	missense			ENST00000219789.6	1	1	hg19	CCDS10657.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712574	0.96830	.	.	ENSG00000103502	ENST00000219789	T	0.51574	0.7	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.72130	-0.4383	10	0.56958	D	0.05	-5.9296	17.2093	0.86926	0.0:1.0:0.0:0.0	.	164;209;233	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	H	209	ENSP00000219789:R209H	ENSP00000219789:R209H	R	-	2	0	CDIPT	29778027	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	6.382000	0.73167	2.664000	0.90586	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	1	0	1	12	41	0	13	1	1	143	408	0	13	2		0	0	0	0	0	2	1	9.994242e-01	12	40	0	13	2								-19.999830	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999811	0.990000	1	9.900000e-01	1
CDIPT	10423	broad.mit.edu	37	16	29874153	29874153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29874153A>C	ENST00000219789.6	-	1	904	c.26T>G	c.(25-27)tTc>tGc	p.F9C	CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT_ENST00000566113.1_Missense_Mutation_p.F9C|CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT_ENST00000561555.1_5'Flank	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase			4					GTTGGGCACGAACAGGAAGAT	0.697000																								0							SO:0001583	missense			ENST00000219789.6	1	1	hg19	CCDS10657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512933|3.512933	0.64522|0.64522	.|.	.|.	ENSG00000103502|ENSG00000103502	ENST00000219789|ENST00000403894	T|.	0.48201|.	0.82|.	5.24|5.24	4.13|4.13	0.48395|0.48395	.|.	0.049082|.	0.85682|.	N|.	0.000000|.	T|T	0.75079|0.75079	0.3801|0.3801	M|M	0.85099|0.85099	2.735|2.735	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.997|.	T|T	0.75513|0.75513	-0.3291|-0.3291	10|6	0.87932|0.46703	D|T	0|0.11	-14.366|-14.366	10.7309|10.7309	0.46096|0.46096	0.8398:0.1602:0.0:0.0|0.8398:0.1602:0.0:0.0	.|.	9;9|.	B4DUV0;O14735|.	.;CDIPT_HUMAN|.	C|A	9|31	ENSP00000219789:F9C|.	ENSP00000219789:F9C|ENSP00000386065:S31A	F|S	-|-	2|1	0|0	CDIPT|CDIPT	29781654|29781654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.554000|0.554000	0.35429|0.35429	5.039000|5.039000	0.64185|0.64185	0.914000|0.914000	0.36822|0.36822	-0.466000|-0.466000	0.05196|0.05196	TTC|TCG		TCGA-IB-7651-01A-11D-2154-08	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	1	0	1	160	786	0	175	1	1	81	280	0	175	2		0	0	0	0	0	2	1	1	157	776	0	173	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEZ6L2	26470	broad.mit.edu	37	16	29888137	29888137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29888137C>T	ENST00000308713.5	-	12	2571	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2			39					GTGAGAATGTCGGAGCCTAGC	0.701000																								0							SO:0001583	missense			ENST00000308713.5	0	1	hg19	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234224	0.79688	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.57	4.62	0.57501	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000016	T	0.68302	0.2986	L	0.29908	0.895	0.80722	D	1	B;B;B;D;D;P	0.89917	0.027;0.101;0.385;1.0;1.0;0.487	B;B;B;D;D;B	0.91635	0.008;0.025;0.07;0.999;0.998;0.062	T	0.68804	-0.5312	10	0.44086	T	0.13	.	13.6591	0.62357	0.0:0.9238:0.0:0.0762	.	638;682;568;612;682;612	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	N	612;682;568;638	ENSP00000310206:D612N;ENSP00000312550:D682N;ENSP00000319215:D568N;ENSP00000439412:D638N	ENSP00000312550:D682N	D	-	1	0	SEZ6L2	29795638	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.658000	0.61497	1.350000	0.45770	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	1	0	1	14	80	0	18	1	1	167	196	0	18	2		0	0	0	0	0	2	1	9.998061e-01	14	78	0	18	2								-19.999900	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.998391	0.990000	1	9.900000e-01	1
SEZ6L2	26470	broad.mit.edu	37	16	29891239	29891239	+	Missense_Mutation	SNP	C	C	T	rs139011711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29891239C>T	ENST00000308713.5	-	9	2046	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2			39					TCCACACATTCGATGGCATTG	0.622000																								0							SO:0001583	missense			ENST00000308713.5	1	1	hg19	CCDS10659.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	29.8	5.039132	0.93630	2.28E-4	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.105878	0.41823	D	0.000808	T	0.74642	0.3743	M	0.62723	1.935	0.80722	D	1	D;D;P;P;D;P	0.63880	0.993;0.96;0.824;0.951;0.96;0.951	P;B;B;B;B;B	0.61201	0.885;0.348;0.278;0.236;0.348;0.236	T	0.72865	-0.4163	10	0.39692	T	0.17	.	17.8014	0.88589	0.0:1.0:0.0:0.0	.	463;507;393;437;507;437	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	K	437;507;393;463	ENSP00000310206:E437K;ENSP00000312550:E507K;ENSP00000319215:E393K;ENSP00000439412:E463K	ENSP00000312550:E507K	E	-	1	0	SEZ6L2	29798740	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	4.505000	0.60421	2.735000	0.93741	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	1	0	1	224	940	0	241	1	1	241	343	0	241	2		0	0	0	0	0	2	1	1	219	932	0	239	2								-3.278350	1	1	121412	10	47	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAOK2	9344	broad.mit.edu	37	16	29989137	29989137	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29989137T>C	ENST00000308893.4	+	2	1087	c.44T>C	c.(43-45)gTg>gCg	p.V15A	TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A|TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2			22					GACCCAGATGTGGCTGAGCTC	0.612000																								0							SO:0001583	missense			ENST00000308893.4	1	1	hg19	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900361	0.72754	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71698	-0.59;-0.49;-0.55	5.35	5.35	0.76521	.	0.064535	0.64402	D	0.000011	T	0.66799	0.2826	L	0.34521	1.04	0.80722	D	1	P;B;B;P	0.37038	0.579;0.169;0.105;0.579	B;B;B;P	0.44811	0.361;0.241;0.121;0.461	T	0.64343	-0.6430	9	.	.	.	.	14.6093	0.68504	0.0:0.0:0.0:1.0	.	199;15;15;15	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	A	15	ENSP00000310094:V15A;ENSP00000440336:V15A;ENSP00000279394:V15A	.	V	+	2	0	TAOK2	29896638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	2.155000	0.67459	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1	73	305	0	68	1	9.999967e-01	26	53	0	68	2		0	0	0	0	0	2	1	1	73	295	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAOK2	9344	broad.mit.edu	37	16	29996816	29996816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29996816C>A	ENST00000308893.4	+	14	2748	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I|TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2			22					GCAGCACATCCTTGGGCAGCA	0.622000																								0							SO:0001583	missense			ENST00000308893.4	1	1	hg19	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418553	0.62622	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.44083	0.93;0.93;0.93	5.27	2.91	0.33838	.	0.000000	0.64402	D	0.000002	T	0.52386	0.1731	L	0.50333	1.59	0.44547	D	0.997506	D;D;P;P;D	0.76494	0.996;0.999;0.713;0.764;0.983	P;D;P;B;P	0.68483	0.824;0.958;0.614;0.345;0.771	T	0.48801	-0.9003	9	.	.	.	.	9.9385	0.41565	0.0:0.7575:0.0:0.2425	.	760;396;569;569;569	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	I	569	ENSP00000310094:L569I;ENSP00000440336:L569I;ENSP00000279394:L569I	.	L	+	1	0	TAOK2	29904317	0.079000	0.21365	0.977000	0.42913	0.769000	0.43574	1.207000	0.32333	1.193000	0.43086	0.563000	0.77884	CTT		TCGA-IB-7651-01A-11D-2154-08	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1	37	147	0	30	1	1	54	138	0	30	2		0	0	0	0	0	2	1	1	37	145	0	30	2								-3.659681	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAOK2	9344	broad.mit.edu	37	16	29998237	29998237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998237G>A	ENST00000308893.4	+	16	3687	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2			22					GAGTCTTCTGGATGAGGAGTT	0.612000																								0							SO:0001583	missense			ENST00000308893.4	1	1	hg19	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481917	0.44147	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.73152	-0.67;-0.72	5.32	4.37	0.52481	.	1.132340	0.06700	N	0.771279	T	0.51550	0.1681	N	0.08118	0	0.25522	N	0.987355	B;B;B	0.27498	0.18;0.0;0.18	B;B;B	0.21546	0.035;0.002;0.035	T	0.36578	-0.9742	9	.	.	.	.	11.0008	0.47604	0.0882:0.0:0.9118:0.0	.	1073;709;882	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	N	882;769	ENSP00000310094:D882N;ENSP00000440336:D769N	.	D	+	1	0	TAOK2	29905738	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	3.753000	0.55180	1.258000	0.44101	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1	69	242	0	53	1	1	42	82	0	53	2		0	0	0	0	0	2	1	1	68	237	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAOK2	9344	broad.mit.edu	37	16	29999166	29999166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29999166C>T	ENST00000308893.4	+	16	4616	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	TAOK2_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.P1018P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2			22					GTGAACGGCCCACCCGAATCC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000308893.4	1	1	hg19	CCDS10663.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	1	0	1	30	138	0	33	1	9.998067e-01	18	47	0	33	2		0	0	0	0	0	2	1	1	30	135	0	33	2								-20.000000	1	1	121096	1	25	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
HIRIP3	8479	broad.mit.edu	37	16	30004620	30004620	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30004620T>C	ENST00000279392.3	-	7	2409	c.1579A>G	c.(1579-1581)Acc>Gcc	p.T527A	INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3			17					GAGTCCAGGGTCCGTCGGTAC	0.612000																								0							SO:0001583	missense			ENST00000279392.3	1	1	hg19	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	T	1.242	-0.621104	0.03636	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.28666	1.6	5.02	1.46	0.22682	.	0.562321	0.17672	N	0.165940	T	0.13713	0.0332	N	0.12182	0.205	0.19945	N	0.999941	B	0.14012	0.009	B	0.12156	0.007	T	0.19976	-1.0289	10	0.29301	T	0.29	-4.3486	4.1826	0.10383	0.0:0.266:0.1701:0.5639	.	527	Q9BW71	HIRP3_HUMAN	A	527;214	ENSP00000279392:T527A	ENSP00000279392:T527A	T	-	1	0	HIRIP3	29912121	0.985000	0.35326	0.137000	0.22149	0.015000	0.08874	0.925000	0.28791	0.058000	0.16222	-0.256000	0.11100	ACC		TCGA-IB-7651-01A-11D-2154-08	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	1	0	1	73	272	0	63	1	1	24	73	0	63	2		0	0	0	0	0	2	1	1	71	267	0	63	2								-3.873700	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INO80E	283899	broad.mit.edu	37	16	30007925	30007925	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30007925T>C	ENST00000563197.1	+	2	1156	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	INO80E_ENST00000567705.1_Missense_Mutation_p.S47P|HIRIP3_ENST00000279392.3_5'Flank|INO80E_ENST00000304516.7_Missense_Mutation_p.S47P|INO80E_ENST00000567254.1_Missense_Mutation_p.S47P|INO80E_ENST00000563040.1_3'UTR|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_5'Flank	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E			6					ACTGAAGGTGTCCCGGGACAA	0.597000																								0							SO:0001583	missense			ENST00000563197.1	0	1	hg19	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	T	34	5.394629	0.96009	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.64170	1.965	0.58432	D	0.999998	P;D;D	0.57899	0.945;0.981;0.981	D;D;D	0.71184	0.959;0.972;0.959	T	0.78344	-0.2240	9	0.87932	D	0	-17.7738	13.6838	0.62504	0.0:0.0:0.0:1.0	.	71;47;47	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	P	47;71;47	.	ENSP00000303977:S47P	S	+	1	0	INO80E	29915426	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.974000	0.70465	2.125000	0.65367	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	1	0	1	7	45	0	9	1	9.999998e-01	118	276	0	9	2		0	0	0	0	0	2	1	9.819346e-01	7	44	0	9	2								-13.952980	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.760000	1.000000	1.000000	0.984463	0.990000	1	9.900000e-01	1
DOC2A	8448	broad.mit.edu	37	16	30021360	30021360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30021360C>T	ENST00000350119.4	-	2	374	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T|DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha			9					GCAGGGGGGGCCAGAGCCAGG	0.706000																								0							SO:0001583	missense			ENST00000350119.4	1	1	hg19	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592566	0.46214	.	.	ENSG00000149927	ENST00000350119	T	0.62364	0.03	4.23	3.2	0.36748	.	0.200290	0.24791	N	0.035562	T	0.36663	0.0975	N	0.14661	0.345	0.28953	N	0.890294	B	0.06786	0.001	B	0.04013	0.001	T	0.13548	-1.0505	10	0.13108	T	0.6	.	6.3465	0.21353	0.2189:0.5965:0.1846:0.0	.	62	Q14183	DOC2A_HUMAN	T	62	ENSP00000340017:A62T	ENSP00000340017:A62T	A	-	1	0	DOC2A	29928861	0.148000	0.22702	1.000000	0.80357	0.985000	0.73830	0.291000	0.18994	2.203000	0.70933	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	1	0	0	63	266	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	61	264	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP4C	5531	broad.mit.edu	37	16	30094745	30094745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30094745C>A	ENST00000279387.7	+	6	502	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	PPP4C_ENST00000561610.1_Silent_p.R112R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit			9					CACACTGATCCGGGGCAACCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000279387.7	1	1	hg19	CCDS10669.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	1	0	0	82	462	0	106	1	1	11	346	0	106	2		0	0	0	0	0	2	1	1	79	451	0	104	2								-3.018514	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBX6	6911	broad.mit.edu	37	16	30100374	30100374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30100374G>A	ENST00000395224.2	-	4	570	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	TBX6_ENST00000279386.2_Missense_Mutation_p.R171C|TBX6_ENST00000553607.1_Missense_Mutation_p.R171C	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6			9					ATGTAGACACGGTCAGGCAGG	0.632000																								0							SO:0001583	missense			ENST00000395224.2	1	1	hg19	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092673	0.76756	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.90732	-2.72;-2.72;-2.72	5.8	5.8	0.92144	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.76938	2.355	0.80722	D	1	D;D	0.64830	0.994;0.973	P;B	0.55222	0.771;0.414	D	0.94483	0.7695	10	0.87932	D	0	.	18.8306	0.92137	0.0:0.0:1.0:0.0	.	171;171	O95947;Q9HA44	TBX6_HUMAN;.	C	171	ENSP00000378650:R171C;ENSP00000279386:R171C;ENSP00000461223:R171C	ENSP00000279386:R171C	R	-	1	0	TBX6	30007875	1.000000	0.71417	0.987000	0.45799	0.596000	0.36781	6.172000	0.71932	2.747000	0.94245	0.462000	0.41574	CGT		TCGA-IB-7651-01A-11D-2154-08	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	0	0	1	122	565	1	111	1	6.569873e-01	11	1	1	111	2		0	0	0	0	0	2	1	1	118	557	1	110	20								-20.000000	1	1	121404	2	32	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GDPD3	79153	broad.mit.edu	37	16	30116209	30116209	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30116209G>T	ENST00000406256.3	-	10	1318	c.941C>A	c.(940-942)gCt>gAt	p.A314D	RP11-455F5.3_ENST00000515455.2_RNA|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3			11					GGTCCGGGCAGCTGGTCCATG	0.532000																								0							SO:0001583	missense			ENST00000406256.3	1	1	hg19	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487391	0.26686	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	.	.	.	4.13	-0.602	0.11634	.	1.727610	0.04224	N	0.334052	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09997	-1.0649	9	0.12430	T	0.62	.	3.0282	0.06098	0.1015:0.3404:0.395:0.1631	.	314	Q7L5L3	GDPD3_HUMAN	D	314;252	.	ENSP00000353909:A252D	A	-	2	0	GDPD3	30023710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-0.142000	0.11354	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	1	0	1	61	251	0	58	1	9.982227e-01	22	20	0	58	2		0	0	0	0	0	2	1	1	61	247	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAQR4	124222	broad.mit.edu	37	16	3021795	3021795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021795G>A	ENST00000318782.8	+	3	1098	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H|PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PKMYT1_ENST00000571102.1_5'Flank	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	p.R223L(1)		8					AATGTAGCCCGTCTGCCCGAG	0.672000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000318782.8	1	1	hg19	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	18.26	3.583961	0.65992	0.0	1.16E-4	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.33865	1.39	4.81	4.81	0.61882	.	0.063428	0.64402	D	0.000004	T	0.56673	0.2001	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.973;0.929;0.982	T	0.58864	-0.7561	10	0.54805	T	0.06	-29.6577	15.3988	0.74818	0.0:0.0:1.0:0.0	.	148;184;223	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	H	223;149	ENSP00000321804:R223H	ENSP00000293978:R149H	R	+	2	0	PAQR4	2961796	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.200000	0.77838	2.220000	0.72140	0.457000	0.33378	CGT		TCGA-IB-7651-01A-11D-2154-08	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	1	0	1	30	325	0	65	1	9.952491e-01	15	77	0	65	2		0	0	0	0	0	2	1	1	30	321	0	65	2								-3.318794	1	0	121342	14	42	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.710000	1.000000	1.000000	0.953939	0.990000	1	8.700000e-01	1
PAQR4	124222	broad.mit.edu	37	16	3021850	3021850	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021850G>A	ENST00000318782.8	+	3	1153	c.723G>A	c.(721-723)caG>caA	p.Q241Q	PAQR4_ENST00000293978.8_Silent_p.Q202Q|PAQR4_ENST00000572687.1_Silent_p.Q167Q|PAQR4_ENST00000574988.1_Silent_p.Q174Q|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.Q174Q|PKMYT1_ENST00000571102.1_5'Flank	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV			8					ACTCCCACCAGATCATGCACC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000318782.8	1	1	hg19	CCDS10485.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	1	0	1	59	233	0	66	1	9.999977e-01	34	45	0	66	2		0	0	0	0	0	2	1	1	53	229	0	66	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKMYT1	9088	broad.mit.edu	37	16	3022958	3022958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3022958G>A	ENST00000262300.8	-	9	2004	c.1496C>T	c.(1495-1497)aCc>aTc	p.T499I	PAQR4_ENST00000293978.8_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000440027.2_3'UTR|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1			10					TGGGGCTCAGGTTGGGTCTAG	0.577000																								0							SO:0001583	missense			ENST00000262300.8	0	1	hg19	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	9.293	1.051002	0.19827	.	.	ENSG00000127564	ENST00000262300;ENST00000402679	T	0.58940	0.3	5.34	0.64	0.17752	.	0.858383	0.10244	N	0.698096	T	0.32882	0.0844	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.16289	0.015;0.015	T	0.14868	-1.0457	10	0.66056	D	0.02	.	4.123	0.10114	0.0873:0.2402:0.5013:0.1713	.	430;499	B4DXD4;Q99640	.;PMYT1_HUMAN	I	499	ENSP00000262300:T499I	ENSP00000262300:T499I	T	-	2	0	PKMYT1	2962959	0.030000	0.19436	0.761000	0.31378	0.963000	0.63663	0.014000	0.13333	0.230000	0.21059	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	1	0	1	19	82	0	11	1	1	74	127	0	11	2		0	0	0	0	0	2	1	9.999939e-01	16	82	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
PKMYT1	9088	broad.mit.edu	37	16	3026775	3026775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3026775C>A	ENST00000262300.8	-	3	776	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000431515.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1			10					TGCAGAGTCTCTGAGGCCTCG	0.667000																								0							SO:0001587	stop_gained			ENST00000262300.8	0	1	hg19	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119419	0.77323	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	.	.	.	5.78	4.83	0.62350	.	0.598474	0.18049	N	0.153369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-8.655	12.6587	0.56801	0.0:0.92:0.0:0.08	.	.	.	.	X	90;90;90;90;81	.	ENSP00000262300:E90X	E	-	1	0	PKMYT1	2966776	0.035000	0.19736	0.176000	0.23000	0.070000	0.16714	1.081000	0.30791	1.436000	0.47453	-0.140000	0.14226	GAG		TCGA-IB-7651-01A-11D-2154-08	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	1	0	1	23	54	0	17	1	9.727521e-01	2	15	0	17	2		0	0	0	0	0	2	1	9.999998e-01	23	52	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D10B	26000	broad.mit.edu	37	16	30370680	30370680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30370680C>A	ENST00000409939.3	-	7	1535	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B			6			Colorectal(24;0.193)		GCTGAATGGCCTCCTGCAGGT	0.667000																								0							SO:0001583	missense			ENST00000409939.3	0	1	hg19	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342328	0.41498	.	.	ENSG00000169221	ENST00000409939	T	0.12147	2.71	5.31	2.27	0.28462	Rab-GAP/TBC domain (5);	0.000000	0.64402	D	0.000001	T	0.25901	0.0631	M	0.76433	2.335	0.50632	D	0.999888	P	0.50710	0.938	P	0.54664	0.758	T	0.00904	-1.1520	10	0.59425	D	0.04	.	7.8216	0.29290	0.0:0.5928:0.0:0.4072	.	485	Q4KMP7	TB10B_HUMAN	D	485	ENSP00000386538:E485D	ENSP00000386538:E485D	E	-	3	2	TBC1D10B	30278181	0.993000	0.37304	1.000000	0.80357	0.541000	0.35023	0.420000	0.21263	0.243000	0.21327	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	1	0	0	11	32	0	8	1	9.999985e-01	25	79	0	8	2		0	0	0	0	0	2	1	9.989226e-01	11	31	0	8	2								-19.999570	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999833	0.990000	1	9.900000e-01	1
SEPT1	1731	broad.mit.edu	37	16	30392552	30392552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30392552C>A	ENST00000571393.1	-	7	640	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y|SEPT1_ENST00000321367.3_Missense_Mutation_p.D199Y			Q8WYJ6	SEPT1_HUMAN	septin 1			24			Colorectal(24;0.193)		AAGGCCACATCTAGGGGCCGG	0.632000																								0							SO:0001583	missense			ENST00000571393.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.04	3.748985	0.69533	.	.	ENSG00000180096	ENST00000321367	.	.	.	6.07	6.07	0.98685	.	0.175497	0.39909	N	0.001224	D	0.90256	0.6953	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92568	0.6064	9	0.87932	D	0	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	152	Q8WYJ6	SEPT1_HUMAN	Y	152	.	ENSP00000324511:D152Y	D	-	1	0	SEPT1	30300053	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.783000	0.85696	2.884000	0.98904	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	113	389	0	88	0	9.964734e-01	0	32	0	88	2		0	0	0	0	0	2	1	1	113	378	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITFG3	83986	broad.mit.edu	37	16	304439	304439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:304439C>T	ENST00000399932.3	+	3	478	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3			16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)			ACTTAGAGGCCGAAATCCACC	0.493000											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001819	synonymous_variant			ENST00000399932.3	1	1	hg19	CCDS10402.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	1	0	1	126	1226	0	239	1	1	42	304	0	239	2		0	0	0	0	0	2	1	1	126	1208	0	238	2								-3.318794	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.940000	1.000000	1.000000	0.996766	0.990000	1	9.900000e-01	1
ZNF768	79724	broad.mit.edu	37	16	30536376	30536376	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536376C>T	ENST00000380412.5	-	2	1260	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768			15					GCGCTGGTGTCGCAGGAGGTA	0.632000																								0							SO:0001583	missense			ENST00000380412.5	1	1	hg19	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205440	0.39003	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07216	3.21	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002285	T	0.03564	0.0102	L	0.28458	0.855	0.28164	N	0.928832	P	0.40360	0.714	B	0.29176	0.099	T	0.23190	-1.0195	10	0.02654	T	1	-7.1639	5.7035	0.17895	0.1955:0.7065:0.0:0.098	.	362	Q9H5H4	ZN768_HUMAN	Q	362;275	ENSP00000369777:R362Q	ENSP00000369777:R362Q	R	-	2	0	ZNF768	30443877	0.000000	0.05858	1.000000	0.80357	0.908000	0.53690	-1.355000	0.02612	2.384000	0.81235	0.205000	0.17691	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	0	0	0	9	253	0	45	1	9.944457e-01	9	253	0	45	2		0	0	0	0	1	2	1	9.938222e-01	9	247	0	45	2								-10.378970	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.460000	0.210000	1.000000	0.400000	0.543455	0.460000	0	3.200000e-01	1
ZNF768	79724	broad.mit.edu	37	16	30536780	30536780	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536780C>T	ENST00000380412.5	-	2	856	c.681G>A	c.(679-681)ccG>ccA	p.P227P	ZNF768_ENST00000562803.1_Silent_p.P196P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768			15					TCTCAAACTGCGGTGTAGACA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000380412.5	0	1	hg19	CCDS10681.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	0	0	0	14	648	0	117	1	8.793141e-01	4	171	0	117	2		0	0	0	0	0	2	1	9.997475e-01	14	645	0	117	2								-2.679917	1	1	121410	23	45	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.270000	0.140000	1.000000	0.250000	0.396695	0.270000	0	2.000000e-01	1
ZNF768	79724	broad.mit.edu	37	16	30536921	30536921	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536921G>A	ENST00000380412.5	-	2	715	c.540C>T	c.(538-540)ccC>ccT	p.P180P	ZNF768_ENST00000562803.1_Silent_p.P149P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	p.P180P(2)		15					TCTTTTCCTCGGGGTTCAGAA	0.522000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000380412.5	0	1	hg19	CCDS10681.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	0	0	0	16	944	0	172	1	9.340730e-01	7	267	0	172	2		0	0	0	0	0	2	1	9.999215e-01	16	929	0	170	2								-1.777015	0	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.210000	0.110000	1.000000	0.200000	0.348612	0.210000	0	1.600000e-01	1
ZNF768	79724	broad.mit.edu	37	16	30537047	30537047	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30537047C>T	ENST00000380412.5	-	2	589	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ZNF768_ENST00000562803.1_Silent_p.R107R	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768			15					AGCCAGGGCTCCGGGGTTCAT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000380412.5	1	1	hg19	CCDS10681.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	1	0	1	120	494	0	147	1	1	108	196	0	147	2		0	0	0	0	0	2	1	1	119	492	0	147	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF688	146542	broad.mit.edu	37	16	30581384	30581384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30581384C>T	ENST00000223459.6	-	3	1788	c.684G>A	c.(682-684)gcG>gcA	p.A228A	ZNF688_ENST00000395219.1_Silent_p.A214A|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688			8					TCCACTGGTGCGCTTCCACTG	0.721000																								0							SO:0001819	synonymous_variant			ENST00000223459.6	1	1	hg19	CCDS10684.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	1	0	1	27	103	0	18	1	9.854895e-01	9	20	0	18	2		0	0	0	0	0	2	1	1	25	103	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF785	146540	broad.mit.edu	37	16	30594073	30594073	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30594073G>A	ENST00000395216.2	-	3	1185	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	ZNF785_ENST00000470110.1_Silent_p.C327C|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785			9					CACACTCCACGCAGGGGAAGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000395216.2	1	1	hg19	CCDS10685.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	1	0	1	81	394	0	77	1	9.072623e-01	7	15	0	77	2		0	0	0	0	0	2	1	1	77	389	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLDN9	9080	broad.mit.edu	37	16	3063599	3063599	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3063599C>T	ENST00000445369.2	+	1	1143	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9			10					GACCTGCAGGCCGCACGTGCC	0.647000																								0							SO:0001583	missense			ENST00000445369.2	1	1	hg19	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941470	0.53079	.	.	ENSG00000213937	ENST00000445369	D	0.91996	-2.95	4.72	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	M	0.75085	2.285	0.80722	D	1	P	0.50066	0.931	P	0.52758	0.708	D	0.93375	0.6738	10	0.66056	D	0.02	.	11.8215	0.52240	0.1766:0.8234:0.0:0.0	.	79	O95484	CLD9_HUMAN	V	79	ENSP00000398017:A79V	ENSP00000398017:A79V	A	+	2	0	CLDN9	3003600	1.000000	0.71417	0.828000	0.32881	0.394000	0.30568	5.929000	0.70096	1.144000	0.42321	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	1	0	1	97	326	0	61	0	1.350857e-01	0	3	0	61	2		0	0	0	0	0	2	1	1	97	319	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR14	78994	broad.mit.edu	37	16	30664242	30664242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30664242G>A	ENST00000542965.2	+	4	778	c.322G>A	c.(322-324)Gac>Aac	p.D108N	PRR14_ENST00000300835.4_Missense_Mutation_p.D108N			Q9BWN1	PRR14_HUMAN	proline rich 14			18			Colorectal(24;0.103)		TAGGCCTCCCGACCCTCTGTG	0.652000																								0							SO:0001583	missense			ENST00000542965.2	1	1	hg19	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372918	0.24857	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.61158	0.13;0.13	5.5	3.46	0.39613	.	0.325087	0.26116	N	0.026241	T	0.49898	0.1584	M	0.64997	1.995	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.48779	-0.9005	10	0.54805	T	0.06	-0.9373	5.4869	0.16755	0.1091:0.0:0.6967:0.1942	.	108	Q9BWN1	PRR14_HUMAN	N	81;108;108	ENSP00000300835:D108N;ENSP00000441641:D108N	ENSP00000287463:D81N	D	+	1	0	PRR14	30571743	0.859000	0.29813	0.010000	0.14722	0.110000	0.19582	2.079000	0.41577	0.587000	0.29643	0.585000	0.79938	GAC		TCGA-IB-7651-01A-11D-2154-08	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	1	0	1	72	274	0	68	1	9.998702e-01	17	36	0	68	2		0	0	0	0	0	2	1	1	70	270	0	66	2								-3.551133	1	1	121412	1	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR14	78994	broad.mit.edu	37	16	30666168	30666168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666168C>T	ENST00000542965.2	+	7	1333	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14			18			Colorectal(24;0.103)		AGAGGCCGAGCAGTCTGGGGC	0.627000																								0							SO:0001587	stop_gained			ENST00000542965.2	0	1	hg19	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361763	0.98235	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	.	.	.	5.75	3.56	0.40772	.	0.440563	0.20816	N	0.085141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.0254	9.3627	0.38206	0.142:0.6106:0.2474:0.0	.	.	.	.	X	266;293;293	.	ENSP00000287463:Q266X	Q	+	1	0	PRR14	30573669	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.508000	0.35769	2.716000	0.92895	0.643000	0.83706	CAG		TCGA-IB-7651-01A-11D-2154-08	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	0	0	0	13	334	0	57	0	9.007015e-01	1	105	0	57	2		0	0	0	0	0	2	1	9.994730e-01	13	325	0	57	2								-13.889910	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.490000	0.260000	1.000000	0.450000	0.566890	0.490000	0	3.600000e-01	1
PRR14	78994	broad.mit.edu	37	16	30666368	30666368	+	Silent	SNP	G	G	A	rs150232321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666368G>A	ENST00000542965.2	+	7	1533	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	PRR14_ENST00000300835.4_Silent_p.P359P|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14			18			Colorectal(24;0.103)		GACCACGGCCGCGGCGGCACA	0.701000																								0							SO:0001819	synonymous_variant			ENST00000542965.2	1	1	hg19	CCDS10687.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	0	0	1	66	370	0	72	1	1	48	147	0	72	2		0	0	0	0	0	2	1	1	66	360	0	71	2								-5.437837	1	1	121224	55	47	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR14	78994	broad.mit.edu	37	16	30666370	30666370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666370G>A	ENST00000542965.2	+	7	1535	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14			18			Colorectal(24;0.103)		CCACGGCCGCGGCGGCACACT	0.701000																								0							SO:0001583	missense			ENST00000542965.2	1	1	hg19	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575059	0.86542	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.52057	0.68;0.68	5.37	5.37	0.77165	.	0.457720	0.20325	N	0.094558	T	0.67078	0.2855	M	0.67953	2.075	0.33381	D	0.574913	D	0.89917	1.0	D	0.83275	0.996	T	0.73594	-0.3933	10	0.42905	T	0.14	-12.9856	16.0349	0.80617	0.0:0.0:1.0:0.0	.	360	Q9BWN1	PRR14_HUMAN	Q	333;360;360	ENSP00000300835:R360Q;ENSP00000441641:R360Q	ENSP00000287463:R333Q	R	+	2	0	PRR14	30573871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.502000	0.66956	2.507000	0.84556	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	1	0	1	92	344	0	70	1	1	50	145	0	70	2		0	0	0	0	0	2	1	1	87	339	0	70	2								-3.646816	1	1	121242	1	31	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR14	78994	broad.mit.edu	37	16	30667463	30667463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30667463G>A	ENST00000542965.2	+	11	2045	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q			Q9BWN1	PRR14_HUMAN	proline rich 14			18			Colorectal(24;0.103)		AGCCTTCCTCGATCACGAAGA	0.642000																								0							SO:0001583	missense			ENST00000542965.2	1	1	hg19	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029849	0.75504	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.59906	0.23;0.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.68593	2.085	0.44110	D	0.996881	D	0.76494	0.999	D	0.68765	0.96	T	0.75468	-0.3307	10	0.87932	D	0	-7.6571	17.5606	0.87906	0.0:0.0:1.0:0.0	.	530	Q9BWN1	PRR14_HUMAN	Q	503;530;530	ENSP00000300835:R530Q;ENSP00000441641:R530Q	ENSP00000287463:R503Q	R	+	2	0	PRR14	30574964	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	4.874000	0.63064	2.890000	0.99128	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	1	0	1	64	617	0	121	1	1	36	255	0	121	2		0	0	0	0	0	2	1	1	63	606	0	117	2								-3.318794	1	1	121402	1	42	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.890000	1.000000	1.000000	0.991910	0.990000	1	9.900000e-01	1
FBRS	64319	broad.mit.edu	37	16	30680146	30680146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680146G>A	ENST00000287468.5	+	11	915	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	FBRS_ENST00000568722.1_Missense_Mutation_p.A130T|FBRS_ENST00000356166.6_Missense_Mutation_p.A738T|FBRS_ENST00000395073.2_Missense_Mutation_p.A130T	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin			1			Colorectal(24;0.103)		ACCAGCCTTCGCCTCCCCACC	0.687000																								0							SO:0001583	missense			ENST00000287468.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.01	2.408585	0.42715	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32515	1.45	5.48	5.48	0.80851	.	0.166295	0.37715	N	0.001969	T	0.22859	0.0552	L	0.29908	0.895	0.29528	N	0.852992	B	0.26400	0.148	B	0.16722	0.016	T	0.10314	-1.0635	10	0.41790	T	0.15	-5.1837	13.0397	0.58891	0.0:0.2736:0.7264:0.0	.	218	Q9HAH7	FBRS_HUMAN	T	738;218;130	ENSP00000348489:A738T	ENSP00000287468:A218T	A	+	1	0	FBRS	30587647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.389000	0.44407	2.584000	0.87258	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	13	83	0	9	1	9.999995e-01	59	155	0	9	2		0	0	0	0	0	2	1	9.996621e-01	13	83	0	7	2								-19.993970	1	0	120908	2	26	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.940000	1.000000	1.000000	0.995938	0.990000	1	9.900000e-01	1
FBRS	64319	broad.mit.edu	37	16	30680839	30680839	+	Missense_Mutation	SNP	C	C	T	rs146279694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680839C>T	ENST00000287468.5	+	12	1519	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L	FBRS_ENST00000568722.1_Missense_Mutation_p.P331L|FBRS_ENST00000356166.6_Missense_Mutation_p.P939L|FBRS_ENST00000395073.2_Missense_Mutation_p.P331L	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin			1			Colorectal(24;0.103)		GCTGCGGCCCCGGGAACCCCT	0.716000																								0							SO:0001583	missense			ENST00000287468.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.29	1.893585	0.33442	0.0	1.18E-4	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32753	1.44	5.09	4.14	0.48551	.	0.344694	0.27473	N	0.019219	T	0.19406	0.0466	N	0.22421	0.69	0.50813	D	0.999891	B	0.06786	0.001	B	0.04013	0.001	T	0.04593	-1.0940	10	0.40728	T	0.16	-4.522	8.3844	0.32491	0.1539:0.7642:0.0:0.0819	.	419	Q9HAH7	FBRS_HUMAN	L	939;419;331	ENSP00000348489:P939L	ENSP00000287468:P419L	P	+	2	0	FBRS	30588340	0.947000	0.32204	0.880000	0.34516	0.974000	0.67602	2.146000	0.42216	1.383000	0.46405	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	25	1580	0	234	1	6.648737e-01	2	142	0	234	2		0	0	0	0	0	2	1	9.999998e-01	25	1556	0	228	2								-1.708724	0	1	121076	3	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.190000	0.120000	1.000000	0.180000	0.334178	0.190000	0	1.500000e-01	1
TNFRSF12A	51330	broad.mit.edu	37	16	3071282	3071282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3071282C>T	ENST00000326577.4	+	2	247	c.161C>T	c.(160-162)tCt>tTt	p.S54F	TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F|THOC6_ENST00000253952.9_5'Flank|TNFRSF12A_ENST00000341627.5_Intron|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|TNFRSF12A_ENST00000575124.1_Intron|THOC6_ENST00000575576.1_5'Flank|CLDN6_ENST00000396925.1_5'Flank	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A			2					GACTGCGCGTCTTGCAGGGCG	0.736000																								0							SO:0001583	missense			ENST00000326577.4	1	1	hg19	CCDS10489.1	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050320	0.19827	.	.	ENSG00000006327	ENST00000326577	.	.	.	4.76	3.81	0.43845	.	.	.	.	.	T	0.44286	0.1286	L	0.27053	0.805	0.80722	D	1	P	0.44946	0.846	P	0.46850	0.529	T	0.37291	-0.9712	8	0.54805	T	0.06	-7.165	9.1036	0.36685	0.0:0.8976:0.0:0.1024	.	54	Q9NP84	TNR12_HUMAN	F	54	.	ENSP00000326737:S54F	S	+	2	0	TNFRSF12A	3011283	0.707000	0.27866	0.682000	0.30024	0.219000	0.24729	2.992000	0.49417	1.003000	0.39130	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250990.1	1	0	0	24	97	0	15	1	1	139	207	0	15	2		0	0	0	0	0	2	1	9.999999e-01	24	97	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
SRCAP	10847	broad.mit.edu	37	16	30740437	30740437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30740437G>A	ENST00000262518.4	+	26	6194	c.5809G>A	c.(5809-5811)Ggc>Agc	p.G1937S	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1779S|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1875S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein			136			Colorectal(24;0.198)		CAGCCCCATCGGCCCTCGTTC	0.597000																								0							SO:0001583	missense			ENST00000262518.4	1	1	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496274	0.44352	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91180	-2.77;-2.8;-2.78	5.4	4.45	0.53987	.	0.000000	0.56097	D	0.000035	T	0.75708	0.3886	N	0.03608	-0.345	0.36061	D	0.841433	P;B	0.39443	0.674;0.32	B;B	0.32677	0.15;0.072	T	0.80770	-0.1234	10	0.36615	T	0.2	-1.5968	11.2141	0.48817	0.0851:0.0:0.9149:0.0	.	1875;1937	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	1937;1875;1779	ENSP00000262518:G1937S;ENSP00000378499:G1875S;ENSP00000343042:G1779S	ENSP00000262518:G1937S	G	+	1	0	SRCAP	30647938	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.899000	0.48679	1.525000	0.49052	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	0	0	0	12	378	0	78	1	9.112126e-01	11	124	0	78	2		0	0	0	0	0	2	1	9.990174e-01	11	370	0	76	2								-3.318794	1	1	121412	2	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.400000	0.210000	1.000000	0.360000	0.499312	0.400000	0	2.900000e-01	1
SRCAP	10847	broad.mit.edu	37	16	30745907	30745907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30745907G>T	ENST00000262518.4	+	31	7085	c.6700G>T	c.(6700-6702)Gcc>Tcc	p.A2234S	SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein			136			Colorectal(24;0.198)		AGAGACTGTGGCCAGCAAGCA	0.478000																								0							SO:0001583	missense			ENST00000262518.4	1	1	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573208	0.45902	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.07688	3.17;3.17;3.17	6.04	6.04	0.98038	.	0.240983	0.29480	N	0.012035	T	0.07369	0.0186	N	0.04508	-0.205	0.30318	N	0.787897	D;D	0.56287	0.975;0.958	P;B	0.52386	0.697;0.423	T	0.27262	-1.0079	10	0.24483	T	0.36	-13.8238	12.661	0.56813	0.076:0.0:0.924:0.0	.	2172;2234	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2234;2172;2076	ENSP00000262518:A2234S;ENSP00000378499:A2172S;ENSP00000343042:A2076S	ENSP00000262518:A2234S	A	+	1	0	SRCAP	30653408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.883000	0.48554	2.873000	0.98535	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1	105	372	0	113	1	1	44	111	0	113	2		0	0	0	0	0	2	1	1	105	362	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRCAP	10847	broad.mit.edu	37	16	30749384	30749384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30749384G>T	ENST00000262518.4	+	34	8408	c.8023G>T	c.(8023-8025)Gaa>Taa	p.E2675*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein			136			Colorectal(24;0.198)		CAGGACCTCGGAAGAGCTGAC	0.592000																								0							SO:0001587	stop_gained			ENST00000262518.4	0	1	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	44	10.550334	0.99426	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.02	4.02	0.46733	.	0.272978	0.26289	N	0.025226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.7686	14.0938	0.65006	0.0:0.0:1.0:0.0	.	.	.	.	X	2675;2613;2517	.	ENSP00000262518:E2675X	E	+	1	0	SRCAP	30656885	0.993000	0.37304	0.967000	0.41034	0.135000	0.20990	2.659000	0.46741	2.543000	0.85770	0.467000	0.42956	GAA		TCGA-IB-7651-01A-11D-2154-08	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1	35	316	0	91	1	9.999974e-01	34	146	0	91	2		0	0	0	0	0	2	1	1	34	307	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.860000	1.000000	1.000000	0.990993	0.990000	1	9.900000e-01	1
SRCAP	10847	broad.mit.edu	37	16	30750367	30750367	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30750367A>G	ENST00000262518.4	+	34	9391	c.9006A>G	c.(9004-9006)ccA>ccG	p.P3002P	SRCAP_ENST00000344771.4_Silent_p.P2844P|SRCAP_ENST00000395059.2_Silent_p.P2940P|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein			136			Colorectal(24;0.198)		CAACGTCCCCACCCAAACGGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000262518.4	1	1	hg19	CCDS10689.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1	49	318	0	74	1	1	90	141	0	74	2		0	0	0	0	0	2	1	1	48	306	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
THOC6	79228	broad.mit.edu	37	16	3076711	3076711	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076711A>G	ENST00000326266.8	+	8	811	c.515A>G	c.(514-516)cAc>cGc	p.H172R	HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)			13					GACTACATCCACTGCCTGGCA	0.607000																								0							SO:0001583	missense			ENST00000326266.8	1	1	hg19	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152989	0.78001	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.57107	0.42;0.42	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	N	0.17248	0.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.967;0.979	T	0.51348	-0.8717	10	0.20046	T	0.44	-12.7575	13.695	0.62572	1.0:0.0:0.0:0.0	.	172;172	Q86W42-3;Q86W42	.;THOC6_HUMAN	R	172	ENSP00000326531:H172R;ENSP00000253952:H172R	ENSP00000253952:H172R	H	+	2	0	THOC6	3016712	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.814000	0.86154	2.125000	0.65367	0.459000	0.35465	CAC		TCGA-IB-7651-01A-11D-2154-08	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	1	0	1	32	110	0	32	1	1	81	142	0	32	2		0	0	0	0	0	2	1	1	32	107	0	32	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THOC6	79228	broad.mit.edu	37	16	3076719	3076719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076719G>A	ENST00000326266.8	+	8	819	c.523G>A	c.(523-525)Gca>Aca	p.A175T	HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)			13					CCACTGCCTGGCACTGCGGGA	0.607000																								0							SO:0001583	missense			ENST00000326266.8	1	1	hg19	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591751	0.46214	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.63744	-0.06;-0.06	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.161710	0.53938	D	0.000043	T	0.59432	0.2193	L	0.52759	1.655	0.39501	D	0.968208	B;B	0.29552	0.208;0.248	B;B	0.30179	0.068;0.112	T	0.60326	-0.7285	10	0.46703	T	0.11	-22.8815	17.0618	0.86549	0.0:0.0:1.0:0.0	.	175;175	Q86W42-3;Q86W42	.;THOC6_HUMAN	T	175	ENSP00000326531:A175T;ENSP00000253952:A175T	ENSP00000253952:A175T	A	+	1	0	THOC6	3016720	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.137000	0.42130	2.631000	0.89168	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	1	0	0	6	137	0	31	1	9.932652e-01	15	210	0	31	2		0	0	0	0	0	2	1	9.636741e-01	6	134	0	31	2								-4.065004	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.580000	0.230000	1.000000	1.000000	0.635233	0.580000	0	3.700000e-01	1
RNF40	9810	broad.mit.edu	37	16	30778156	30778156	+	Missense_Mutation	SNP	G	G	A	rs11556801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30778156G>A	ENST00000324685.6	+	11	1823	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	RNF40_ENST00000402121.3_Missense_Mutation_p.R155H|RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000563683.1_Missense_Mutation_p.R423H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase			30			Colorectal(24;0.198)		GAGATGCTGCGCATCGAGTTT	0.612000																								0							SO:0001583	missense			ENST00000324685.6	1	1	hg19	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522352	0.96431	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.37235	1.21;1.21;1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68454	-0.5404	10	0.52906	T	0.07	-11.9928	18.7552	0.91830	0.0:0.0:1.0:0.0	rs11556801;rs11556801	155;363;463;463	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	H	463;363;155	ENSP00000325677:R463H;ENSP00000350563:R363H;ENSP00000384942:R155H	ENSP00000325677:R463H	R	+	2	0	RNF40	30685657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.723000	0.93209	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	1	0	1	41	115	0	36	1	1	69	177	0	36	2		0	0	0	0	0	2	1	1	41	113	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC64B	146439	broad.mit.edu	37	16	3078764	3078764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3078764G>A	ENST00000572449.1	-	8	1237	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	CCDC64B_ENST00000573514.1_Missense_Mutation_p.A185V|CCDC64B_ENST00000389347.4_Missense_Mutation_p.A392V			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B			4					GTCTTCCTGCGCCCGCAGCTC	0.667000																								0							SO:0001583	missense			ENST00000572449.1	0	1	hg19	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274034	0.23221	4.92E-4	0.0	ENSG00000162069	ENST00000389347	T	0.32023	1.47	4.28	-0.618	0.11576	.	0.720818	0.12366	N	0.475230	T	0.16342	0.0393	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18366	-1.0339	10	0.45353	T	0.12	-3.7626	5.0526	0.14516	0.1749:0.0:0.2826:0.5425	.	392	A1A5D9	BICR2_HUMAN	V	392	ENSP00000373998:A392V	ENSP00000373998:A392V	A	-	2	0	CCDC64B	3018765	0.000000	0.05858	0.006000	0.13384	0.239000	0.25481	0.214000	0.17541	-0.176000	0.10707	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1	1	0	1	9	12	0	9	1	9.999558e-01	23	18	0	9	2		0	0	0	0	0	2	1	9.975165e-01	9	12	0	9	2								-19.997120	1	1	115244	4	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999902	0.990000	1	9.900000e-01	1
ZNF629	23361	broad.mit.edu	37	16	30794890	30794890	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30794890C>T	ENST00000262525.4	-	3	966	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629			22			Colorectal(24;0.198)		TGTGGGATCGCTGGTGCTTGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000262525.4	1	1	hg19	CCDS45463.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	1	0	1	87	328	0	70	1	9.966101e-01	4	31	0	70	2		0	0	0	0	0	2	1	1	85	320	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITFG3	83986	broad.mit.edu	37	16	309975	309975	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:309975C>A	ENST00000399932.3	+	5	844	c.393C>A	c.(391-393)tcC>tcA	p.S131S	ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3			16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)			CAGGCTTTTCCTCTCCCTGCA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000399932.3	1	1	hg19	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093049	0.01858	.	.	ENSG00000167930	ENST00000421000	.	.	.	4.38	1.3	0.21679	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.24654	N	0.993503	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-4.4893	3.7011	0.08383	0.0:0.4522:0.1843:0.3635	.	.	.	.	H	60	.	.	P	+	2	0	ITFG3	249976	0.001000	0.12720	0.091000	0.20842	0.034000	0.12701	-0.327000	0.07955	0.579000	0.29504	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	1	0	1	49	179	0	39	1	1	121	216	0	39	2		0	0	0	0	0	2	1	1	49	175	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSD3B7	80270	broad.mit.edu	37	16	30997931	30997931	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30997931A>G	ENST00000297679.5	+	5	530	c.437A>G	c.(436-438)aAc>aGc	p.N146S	HSD3B7_ENST00000262520.6_Missense_Mutation_p.N146S|HSD3B7_ENST00000353250.5_Missense_Mutation_p.N146S|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7			12					ACCAGGGGCAACGAAGACACC	0.602000																								0							SO:0001583	missense			ENST00000297679.5	0	1	hg19	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038306	0.75617	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.84873	-1.91;-1.91;-1.91	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.042077	0.85682	D	0.000000	D	0.88687	0.6504	M	0.62088	1.915	0.52501	D	0.999951	B;P	0.49862	0.368;0.929	B;P	0.56216	0.292;0.794	D	0.87868	0.2669	10	0.38643	T	0.18	-15.5205	13.8286	0.63366	1.0:0.0:0.0:0.0	.	146;146	Q96M28;Q9H2F3	.;3BHS7_HUMAN	S	146	ENSP00000262520:N146S;ENSP00000370662:N146S;ENSP00000297679:N146S	ENSP00000262520:N146S	N	+	2	0	HSD3B7	30905432	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.574000	0.67424	2.154000	0.67381	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2	0	0	0	9	412	0	83	1	9.855500e-01	29	310	0	83	2		0	0	0	0	0	2	1	9.938780e-01	7	407	0	82	2								-8.758649	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.290000	0.130000	1.000000	0.250000	0.406158	0.290000	0	1.900000e-01	1
HSD3B7	80270	broad.mit.edu	37	16	30999191	30999191	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999191G>T	ENST00000297679.5	+	7	890	c.797G>T	c.(796-798)aGg>aTg	p.R266M	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7			12					TCACCCTACAGGAGCTACGAG	0.632000																								0							SO:0001583	missense			ENST00000297679.5	1	1	hg19	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066174	0.55539	.	.	ENSG00000099377	ENST00000297679	T	0.62941	-0.01	5.1	5.1	0.69264	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.044917	0.85682	D	0.000000	T	0.30978	0.0782	N	0.00879	-1.12	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.09422	-1.0675	10	0.41790	T	0.15	-25.6465	10.0568	0.42250	0.9187:0.0:0.0813:0.0	.	266	Q9H2F3	3BHS7_HUMAN	M	266	ENSP00000297679:R266M	ENSP00000297679:R266M	R	+	2	0	HSD3B7	30906692	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.505000	0.53356	0.785000	0.33685	-0.254000	0.11334	AGG		TCGA-IB-7651-01A-11D-2154-08	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2	0	0	1	47	1273	0	204	1	9.903240e-01	26	166	0	204	2		0	0	0	0	0	2	1	1	47	1262	0	198	2								-2.893166	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.440000	0.310000	1.000000	0.430000	0.532970	0.440000	0	3.700000e-01	1
HSD3B7	80270	broad.mit.edu	37	16	30999413	30999413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999413G>A	ENST00000297679.5	+	7	1112	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	p.R340L(1)		12					AAGGCTCAGCGCCATTTCGGC	0.647000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000297679.5	1	1	hg19	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504362	0.85176	.	.	ENSG00000099377	ENST00000297679	T	0.65549	-0.16	5.17	4.2	0.49525	.	0.105382	0.64402	D	0.000019	T	0.69869	0.3159	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.71636	-0.4533	10	0.62326	D	0.03	-24.6471	9.4788	0.38889	0.1662:0.0:0.8338:0.0	.	340	Q9H2F3	3BHS7_HUMAN	H	340	ENSP00000297679:R340H	ENSP00000297679:R340H	R	+	2	0	HSD3B7	30906914	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	3.539000	0.53604	2.398000	0.81561	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2	1	0	1	34	192	0	39	1	1	93	222	0	39	2		0	0	0	0	0	2	1	1	34	191	0	38	2								-20.000000	1	1	121404	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
MMP25	64386	broad.mit.edu	37	16	3100403	3100403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3100403G>A	ENST00000336577.4	+	4	754	c.517G>A	c.(517-519)Gac>Aac	p.D173N	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25			14				Marimastat(DB00786)	CATCCTCATCGACTTTGCCCG	0.642000													NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)											0							SO:0001583	missense			ENST00000336577.4	1	1	hg19	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891265	0.17613	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.20463	2.07	4.96	2.83	0.33086	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.123299	0.36034	N	0.002821	T	0.21186	0.0510	L	0.54323	1.7	0.22127	N	0.999349	P;P	0.44690	0.806;0.841	B;P	0.44897	0.232;0.463	T	0.07790	-1.0754	10	0.27785	T	0.31	.	7.8239	0.29303	0.0949:0.2212:0.6838:0.0	.	97;173	O43923;Q9NPA2	.;MMP25_HUMAN	N	173;100	ENSP00000337816:D173N	ENSP00000324953:D100N	D	+	1	0	MMP25	3040404	0.000000	0.05858	0.990000	0.47175	0.115000	0.19883	0.369000	0.20416	0.380000	0.24823	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	1	0	0	14	332	0	57	0	2.601728e-02	0	6	0	57	2		0	0	0	0	0	2	1	9.997381e-01	14	326	0	57	2								-14.651440	1	1	121412	1	32	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.530000	0.290000	1.000000	0.480000	0.596107	0.530000	0	3.900000e-01	1
STX4	6810	broad.mit.edu	37	16	31050965	31050965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31050965C>T	ENST00000313843.3	+	9	1121	c.806C>T	c.(805-807)gCg>gTg	p.A269V	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.A267V	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4			9					CAGAAGAAGGCGAGGAAGGTG	0.587000																								0							SO:0001583	missense			ENST00000313843.3	1	1	hg19	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546054	0.86022	0.0	1.16E-4	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.39406	1.08;1.26	6.08	6.08	0.98989	.	0.102174	0.64402	D	0.000002	T	0.51109	0.1655	M	0.81682	2.555	0.46096	D	0.99886	D;D	0.64830	0.993;0.994	B;B	0.42030	0.373;0.198	T	0.60424	-0.7266	10	0.62326	D	0.03	-11.455	19.4349	0.94788	0.0:1.0:0.0:0.0	.	269;267	Q12846;A8MXY0	STX4_HUMAN;.	V	267;269	ENSP00000378447:A267V;ENSP00000317714:A269V	ENSP00000317714:A269V	A	+	2	0	STX4	30958466	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.379000	0.66196	2.894000	0.99253	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	1	0	1	130	539	0	125	1	1	10	260	0	125	2		0	0	0	0	0	2	1	1	129	530	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STX4	6810	broad.mit.edu	37	16	31051083	31051083	+	Missense_Mutation	SNP	G	G	A	rs149552887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31051083G>A	ENST00000313843.3	+	10	1168	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.V283I	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4			9					CATCACCGTCGTCCTCCTAGC	0.602000																								0							SO:0001583	missense			ENST00000313843.3	1	1	hg19	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	G	0.167	-1.075803	0.01903	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.34667	1.35;1.55	6.08	1.95	0.26073	.	0.454422	0.23652	N	0.045909	T	0.14442	0.0349	N	0.03281	-0.365	0.21553	N	0.999647	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28459	-1.0043	10	0.10636	T	0.68	-4.7427	11.2572	0.49060	0.2188:0.3492:0.432:0.0	.	285;283	Q12846;A8MXY0	STX4_HUMAN;.	I	283;285	ENSP00000378447:V283I;ENSP00000317714:V285I	ENSP00000317714:V285I	V	+	1	0	STX4	30958584	0.998000	0.40836	0.707000	0.30419	0.044000	0.14063	0.405000	0.21015	0.153000	0.19213	-0.882000	0.02950	GTC		TCGA-IB-7651-01A-11D-2154-08	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	0	0	1	218	913	0	204	1	1	78	300	0	204	2		0	0	0	0	0	2	1	1	215	888	0	203	2								-20.000000	1	1	121412	2	40	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP25	64386	broad.mit.edu	37	16	3107048	3107048	+	Missense_Mutation	SNP	G	G	A	rs61747718	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3107048G>A	ENST00000336577.4	+	5	913	c.676G>A	c.(676-678)Gac>Aac	p.D226N	RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25			14				Marimastat(DB00786)	CGAGGGGACCGACCTGTTTGC	0.667000													NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)											0							SO:0001583	missense			ENST00000336577.4	1	0	hg19	CCDS10492.1	62	0.028388278388278388	56	0.11382113821138211	6	0.016574585635359115	0	0.0	0	0.0	g	18.51	3.638965	0.67130	0.111971	0.001163	ENSG00000008516	ENST00000336577	T	0.21191	2.02	4.48	4.48	0.54585	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.238912	0.29139	N	0.013031	T	0.00552	0.0018	L	0.42245	1.32	0.19575	P	0.9999691773	D	0.76494	0.999	P	0.62298	0.9	T	0.01496	-1.1340	9	0.02654	T	1	.	14.677	0.68986	0.0:0.0:1.0:0.0	rs61747718	226	Q9NPA2	MMP25_HUMAN	N	226	ENSP00000337816:D226N	ENSP00000337816:D226N	D	+	1	0	MMP25	3047049	1.000000	0.71417	0.895000	0.35142	0.114000	0.19823	3.909000	0.56363	2.052000	0.61016	0.306000	0.20318	GAC		TCGA-IB-7651-01A-11D-2154-08	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	0	0	1	122	503	0	103	0	4.123337e-01	1	6	0	103	2		0	0	0	0	0	2	1	1	119	490	0	101	2								-2.096472	0	1	121370	1347	63	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF668	79759	broad.mit.edu	37	16	31072498	31072498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072498G>A	ENST00000538906.1	-	3	2535	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668			27					CAAGTCGCTGGCACTCAAGAA	0.637000													Colon(181;1111 1980 5060 10512 25785)											0							SO:0001583	missense			ENST00000538906.1	1	1	hg19	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658554	0.67586	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.30634	0.0771	N	0.14661	0.345	0.47476	D	0.99943	D	0.61080	0.989	P	0.57846	0.828	T	0.02736	-1.1117	10	0.27785	T	0.31	-22.282	12.8872	0.58051	0.0:0.164:0.836:0.0	.	584	Q96K58	ZN668_HUMAN	V	607;584;584;584;584	ENSP00000442573:A607V;ENSP00000441349:A584V;ENSP00000440149:A584V;ENSP00000378434:A584V;ENSP00000300849:A584V	ENSP00000300849:A584V	A	-	2	0	ZNF668	30979999	0.877000	0.30153	1.000000	0.80357	0.985000	0.73830	3.882000	0.56160	2.581000	0.87130	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	1	0	1	151	506	0	112	1	9.999995e-01	18	53	0	112	2		0	0	0	0	0	2	1	1	150	502	0	111	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF668	79759	broad.mit.edu	37	16	31075549	31075549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31075549C>T	ENST00000538906.1	-	2	1016	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T|ZNF668_ENST00000564456.1_5'Flank|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000300849.4_Missense_Mutation_p.A78T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668			27					GGCTTGGCCGCGGAGCCTGAC	0.657000													Colon(181;1111 1980 5060 10512 25785)											0							SO:0001583	missense			ENST00000538906.1	1	1	hg19	CCDS10701.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.950	0.967889	0.18659	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000442862;ENST00000417935	T;T;T;T;T;T;T	0.46819	3.21;3.22;3.22;3.22;3.22;3.1;0.86	4.77	2.63	0.31362	.	0.424966	0.22156	N	0.063841	T	0.29588	0.0738	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31998	-0.9923	10	0.66056	D	0.02	-14.7359	10.7323	0.46104	0.1533:0.7108:0.1359:0.0	.	78	Q96K58	ZN668_HUMAN	T	101;78;78;78;78;78;78	ENSP00000442573:A101T;ENSP00000441349:A78T;ENSP00000440149:A78T;ENSP00000378434:A78T;ENSP00000300849:A78T;ENSP00000416853:A78T;ENSP00000390671:A78T	ENSP00000300849:A78T	A	-	1	0	ZNF668	30983050	0.004000	0.15560	0.009000	0.14445	0.057000	0.15508	1.151000	0.31651	1.324000	0.45282	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	0	0	0	13	401	0	55	1	4.307156e-01	3	41	0	55	2		0	0	0	0	0	2	1	9.994878e-01	13	393	0	54	2								-12.440100	1	1	121400	1	29	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.410000	0.220000	1.000000	0.380000	0.504336	0.410000	0	3.000000e-01	1
ZNF646	9726	broad.mit.edu	37	16	31087864	31087864	+	Silent	SNP	C	C	T	rs141568956	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31087864C>T	ENST00000394979.2	+	1	642	c.219C>T	c.(217-219)ggC>ggT	p.G73G	ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Silent_p.G73G|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646			49					ACGAGACTGGCCTTTTCCCCT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000394979.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	1	0	1	71	276	0	56	1	9.924873e-01	5	27	0	56	2		0	0	0	0	0	2	1	1	71	273	0	56	2								-3.625617	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF646	9726	broad.mit.edu	37	16	31088351	31088351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31088351G>A	ENST00000394979.2	+	1	1129	c.706G>A	c.(706-708)Gag>Aag	p.E236K	ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646			49					TGCTGAGGAGGAGCGGCGGTA	0.597000																								0							SO:0001583	missense			ENST00000394979.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.9	4.065241	0.76187	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979;ENST00000439353	T;T;T	0.34859	2.92;1.34;1.34	5.6	5.6	0.85130	.	.	.	.	.	T	0.51890	0.1701	L	0.34521	1.04	0.37802	D	0.927732	D	0.76494	0.999	D	0.85130	0.997	T	0.57306	-0.7834	9	0.87932	D	0	-19.1463	18.3906	0.90481	0.0:0.0:1.0:0.0	.	236	O15015-2	.	K	236;236;236;1	ENSP00000391271:E236K;ENSP00000300850:E236K;ENSP00000378429:E236K	ENSP00000300850:E236K	E	+	1	0	ZNF646	30995852	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.892000	0.56235	2.640000	0.89533	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	1	0	1	65	219	0	59	1	9.935733e-01	6	23	0	59	2		0	0	0	0	0	2	1	1	64	212	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF646	9726	broad.mit.edu	37	16	31089384	31089384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31089384G>A	ENST00000394979.2	+	1	2162	c.1739G>A	c.(1738-1740)tGt>tAt	p.C580Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y			O15015	ZN646_HUMAN	zinc finger protein 646			49					TGTAGCATCTGTGGGCTGCTC	0.532000																								0							SO:0001583	missense			ENST00000394979.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.61	3.431314	0.62844	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.57752	0.38;0.38	5.2	5.2	0.72013	.	.	.	.	.	T	0.61739	0.2371	L	0.32530	0.975	0.43300	D	0.995291	D	0.67145	0.996	D	0.63192	0.912	T	0.64732	-0.6338	9	0.87932	D	0	-3.1242	17.6776	0.88235	0.0:0.0:1.0:0.0	.	580	O15015-2	.	Y	580	ENSP00000300850:C580Y;ENSP00000378429:C580Y	ENSP00000300850:C580Y	C	+	2	0	ZNF646	30996885	1.000000	0.71417	0.982000	0.44146	0.936000	0.57629	2.425000	0.44723	2.722000	0.93159	0.655000	0.94253	TGT		TCGA-IB-7651-01A-11D-2154-08	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	1	0	1	58	319	0	86	1	9.593684e-01	4	27	0	86	2		0	0	0	0	0	2	1	1	57	309	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS53	339105	broad.mit.edu	37	16	31096484	31096484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31096484G>A	ENST00000280606.6	-	7	1134	c.981C>T	c.(979-981)ggC>ggT	p.G327G		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53			4					CCAGGGCTCCGCCACAGGCCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000280606.6	1	1	hg19	CCDS42153.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	1	0	1	19	79	0	19	1	9.119717e-01	9	11	0	19	2		0	0	0	0	0	2	1	9.999951e-01	18	79	0	19	2								-13.696530	1	1	120956	8	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
VKORC1	79001	broad.mit.edu	37	16	31104708	31104708	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104708G>T	ENST00000394975.2	-	2	435	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	VKORC1_ENST00000319788.7_Missense_Mutation_p.L70M|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M|VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1			4				Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCTGTCCCAGCACATGCTCC	0.592000																								0							SO:0001583	missense			ENST00000394975.2	1	1	hg19	CCDS10703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.84|19.84	3.901624|3.901624	0.72754|0.72754	.|.	.|.	ENSG00000167397|ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000300851;ENST00000394971;ENST00000498155|ENST00000319788;ENST00000394975;ENST00000529564	D|D;D;D	0.97303|0.98649	-4.33|-4.71;-5.05;-3.23	6.17|6.17	0.769|0.769	0.18492|0.18492	.|Vitamin K epoxide reductase (2);	.|0.000000	.|0.50627	.|D	.|0.000102	D|D	0.98707|0.98707	0.9566|0.9566	M|M	0.78456|0.78456	2.415|2.415	0.24446|0.24446	N|N	0.994508|0.994508	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.96014|0.96014	0.9004|0.9004	7|10	0.36615|0.62326	T|D	0.2|0.03	-2.9956|-2.9956	10.007|10.007	0.41964|0.41964	0.4261:0.0:0.5738:0.0|0.4261:0.0:0.5738:0.0	.|.	.|70;70	.|Q9BQB6-2;Q9BQB6	.|.;VKOR1_HUMAN	D|M	90;101;102|70	ENSP00000300851:A90D|ENSP00000326135:L70M;ENSP00000378426:L70M;ENSP00000431371:L70M	ENSP00000300851:A90D|ENSP00000431371:L70M	A|L	-|-	2|1	0|2	VKORC1|RP11-196G11.1;VKORC1	31012209|31012209	0.992000|0.992000	0.36948|0.36948	0.770000|0.770000	0.31555|0.31555	0.903000|0.903000	0.53119|0.53119	0.200000|0.200000	0.17257|0.17257	-0.055000|-0.055000	0.13244|0.13244	0.655000|0.655000	0.94253|0.94253	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	1	0	1	68	288	0	70	1	1	132	595	0	70	2		0	0	0	0	0	2	1	1	65	284	0	70	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VKORC1	79001	broad.mit.edu	37	16	31104728	31104728	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104728A>G	ENST00000394975.2	-	2	415	c.188T>C	c.(187-189)tTc>tCc	p.F63S	VKORC1_ENST00000319788.7_Missense_Mutation_p.F63S|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S|VKORC1_ENST00000394971.3_Silent_p.F94F|VKORC1_ENST00000300851.6_Silent_p.F83F|VKORC1_ENST00000498155.1_Silent_p.F95F	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1			4				Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CACCAGCCCGAAACCCCTGCC	0.557000																								0							SO:0001583	missense			ENST00000394975.2	1	1	hg19	CCDS10703.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743712	0.89663	.	.	ENSG00000167397;ENSG00000167397;ENSG00000255439	ENST00000319788;ENST00000394975;ENST00000529564	D;D;D	0.98717	-5.09;-5.09;-5.09	6.08	6.08	0.98989	Vitamin K epoxide reductase (2);	0.000000	0.64402	D	0.000002	D	0.99162	0.9710	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.99556	1.0967	10	0.87932	D	0	-42.7049	15.6264	0.76863	1.0:0.0:0.0:0.0	.	63;63	Q9BQB6-2;Q9BQB6	.;VKOR1_HUMAN	S	63	ENSP00000326135:F63S;ENSP00000378426:F63S;ENSP00000431371:F63S	ENSP00000431371:F63S	F	-	2	0	RP11-196G11.1;VKORC1	31012229	1.000000	0.71417	0.997000	0.53966	0.757000	0.42996	7.469000	0.80959	2.333000	0.79357	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	1	0	1	53	248	0	63	1	1	90	396	0	63	2		0	0	0	0	0	2	1	1	52	245	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS36	146547	broad.mit.edu	37	16	31157151	31157151	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31157151G>T	ENST00000268281.4	-	6	737	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M|PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36			17					CCAGCACACAGCATCCCTGGC	0.617000																								0							SO:0001583	missense			ENST00000268281.4	1	1	hg19	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414918	0.62511	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.90385	-2.66;-2.66	5.45	0.754	0.18410	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90943	0.7153	L	0.48174	1.505	0.40839	D	0.983656	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.87075	0.2162	9	0.36615	T	0.2	.	5.5116	0.16884	0.1691:0.0:0.5682:0.2627	.	227;227;227	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	M	227	ENSP00000268281:L227M;ENSP00000407160:L227M	ENSP00000268281:L227M	L	-	1	2	PRSS36	31064652	0.998000	0.40836	1.000000	0.80357	0.945000	0.59286	0.165000	0.16564	0.658000	0.30925	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	1	0	1	91	428	0	93	0	2.154758e-01	0	5	0	93	2		0	0	0	0	0	2	1	1	89	419	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL32	9235	broad.mit.edu	37	16	3117423	3117423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3117423C>T	ENST00000534507.1	+	3	272	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	IL32_ENST00000396887.3_Intron|IL32_ENST00000528163.2_Intron|IL32_ENST00000529550.1_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.L21F|IL32_ENST00000530890.1_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000552936.1_Intron|IL32_ENST00000530538.2_Intron|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000533097.2_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.L21F|IL32_ENST00000552664.1_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000444393.3_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.L21F|IL32_ENST00000008180.9_Intron|IL32_ENST00000325568.5_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000549213.1_Intron			P24001	IL32_HUMAN	interleukin 32			15					AATGGTAATGCTCCTCCCTAC	0.567000																								0							SO:0001583	missense			ENST00000534507.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.22	2.170705	0.38315	.	.	ENSG00000008517	ENST00000534507;ENST00000548807;ENST00000396890;ENST00000525377;ENST00000548476;ENST00000551513	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	2.13	-1.14	0.09741	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	1	B;B;B	0.29612	0.034;0.034;0.251	B;B;B	0.31245	0.061;0.061;0.126	T	0.20207	-1.0282	7	.	.	.	.	2.7767	0.05349	0.0:0.4225:0.2516:0.3259	.	21;21;21	F8VSD2;E9PIV2;P24001	.;.;IL32_HUMAN	F	21	ENSP00000431775:L21F;ENSP00000448354:L21F;ENSP00000380099:L21F;ENSP00000433866:L21F;ENSP00000449483:L21F;ENSP00000449147:L21F	.	L	+	1	0	IL32	3057424	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.898000	0.04105	-0.226000	0.09899	0.551000	0.68910	CTC		TCGA-IB-7651-01A-11D-2154-08	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	0	0	1	128	515	0	127	1	1	23	122	0	127	2		0	0	0	0	0	2	1	1	124	497	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FUS	2521	broad.mit.edu	37	16	31202336	31202336	+	Silent	SNP	C	C	T	rs112061837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31202336C>T	ENST00000254108.7	+	14	1551	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.G481G|FUS_ENST00000568685.1_Silent_p.G483G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)			ATGATCGAGGCGGCTACCGGG	0.602000			T	DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1	liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma										Dom	yes		16	16p11.2	2521	fusion, derived from t(12;16) malignant liposarcoma		M, L	0							SO:0001819	synonymous_variant			ENST00000254108.7	1	1	hg19	CCDS10707.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	1	0	1	110	508	0	101	1	1	73	178	0	101	2		0	0	0	0	0	2	1	1	102	499	0	101	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGAM	3684	broad.mit.edu	37	16	31289327	31289327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31289327G>A	ENST00000287497.8	+	12	1328	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ITGAM_ENST00000544665.3_Missense_Mutation_p.S418N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)			56					CGGGTGCAAAGCCTGGTTCTG	0.587000																								0							SO:0001583	missense			ENST00000287497.8	1	1	hg19	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	7.835	0.720633	0.15372	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.21932	1.98;1.98	4.75	-2.93	0.05598	.	.	.	.	.	T	0.14013	0.0339	L	0.43554	1.36	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.004	T	0.38672	-0.9650	9	0.16896	T	0.51	.	6.729	0.23373	0.4375:0.1202:0.4423:0.0	.	418;418	Q4VAK1;P11215	.;ITAM_HUMAN	N	418	ENSP00000441691:S418N;ENSP00000287497:S418N	ENSP00000287497:S418N	S	+	2	0	ITGAM	31196828	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.896000	0.04114	-0.948000	0.03668	-2.236000	0.00289	AGC		TCGA-IB-7651-01A-11D-2154-08	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	1	0	1	10	44	0	15	1	9.991467e-01	2	62	0	15	2		0	0	0	0	0	2	1	9.977981e-01	10	44	0	15	2								-19.518840	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.998641	0.990000	1	9.900000e-01	1
ITGAX	3687	broad.mit.edu	37	16	31382482	31382482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31382482G>T	ENST00000268296.4	+	15	1909	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)			77					ACCTCACCCAGGATGGACTGG	0.652000																								0							SO:0001583	missense			ENST00000268296.4	1	1	hg19	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106802	0.37145	.	.	ENSG00000140678	ENST00000268296	T	0.55588	0.51	5.39	4.44	0.53790	.	.	.	.	.	T	0.43722	0.1260	L	0.41961	1.31	0.28191	N	0.927758	B	0.13145	0.007	B	0.11329	0.006	T	0.36089	-0.9762	9	0.42905	T	0.14	.	8.4724	0.32993	0.1767:0.0:0.8233:0.0	.	596	P20702	ITAX_HUMAN	H	596	ENSP00000268296:Q596H	ENSP00000268296:Q596H	Q	+	3	2	ITGAX	31289983	0.989000	0.36119	0.873000	0.34254	0.857000	0.48899	1.990000	0.40717	1.390000	0.46547	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	1	0	0	36	532	0	107	0	9.453410e-01	0	73	0	107	2		0	0	0	0	0	2	1	1	36	527	0	104	2								-3.221889	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.790000	0.550000	1.000000	1.000000	0.810793	0.790000	0	6.600000e-01	1
ITGAX	3687	broad.mit.edu	37	16	31383786	31383786	+	Missense_Mutation	SNP	C	C	T	rs139559004	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31383786C>T	ENST00000268296.4	+	18	2369	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	ITGAX_ENST00000562522.1_Missense_Mutation_p.R750W	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)			77					CAGAAACCTGCGGCCTATGCT	0.642000																								0							SO:0001583	missense			ENST00000268296.4	1	0	hg19	CCDS10711.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	20.8	4.048045	0.75846	2.28E-4	0.001395	ENSG00000140678	ENST00000268296	T	0.47869	0.83	4.69	3.71	0.42584	Integrin alpha-2 (1);	.	.	.	.	T	0.51534	0.1680	M	0.67700	2.07	0.24917	N	0.992006	D	0.89917	1.0	P	0.56612	0.802	T	0.49351	-0.8949	9	0.72032	D	0.01	.	11.6127	0.51069	0.1787:0.8213:0.0:0.0	.	750	P20702	ITAX_HUMAN	W	750	ENSP00000268296:R750W	ENSP00000268296:R750W	R	+	1	2	ITGAX	31291287	0.000000	0.05858	0.117000	0.21633	0.320000	0.28249	0.223000	0.17719	1.268000	0.44264	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	0	0	1	79	379	0	76	0	9.999908e-01	0	82	0	76	2		0	0	0	0	0	2	1	1	77	370	0	76	2								-3.238651	1	1	121412	255	55	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN10	84891	broad.mit.edu	37	16	3139531	3139531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3139531C>T	ENST00000252463.2	-	5	1826	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10			24					CTCGCTGCAGCGGCAGGGCTT	0.721000																								0							SO:0001583	missense			ENST00000252463.2	1	1	hg19	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894870	0.52121	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.37411	1.2	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.136846	0.34067	N	0.004290	T	0.40040	0.1101	N	0.16708	0.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.63703	0.917;0.916;0.877	T	0.33879	-0.9851	10	0.62326	D	0.03	-34.0564	11.6059	0.51031	0.1779:0.8221:0.0:0.0	.	241;513;580	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	513;580	ENSP00000252463:R580H	ENSP00000252463:R580H	R	-	2	0	ZSCAN10	3079532	0.000000	0.05858	1.000000	0.80357	0.900000	0.52787	-1.643000	0.02004	2.504000	0.84457	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	1	0	1	28	140	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1	26	138	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
ITGAD	3681	broad.mit.edu	37	16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D			71					GGGGCCCCCCGCTACCAGCAT	0.642000																								0							SO:0001583	missense			ENST00000389202.2	1	1	hg19	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.759141	0.49468	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.41065	1.01	4.4	2.15	0.27550	.	.	.	.	.	T	0.72606	0.3481	H	0.96691	3.865	0.22656	N	0.998881	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62397	-0.6863	9	0.87932	D	0	.	8.4812	0.33043	0.2178:0.0:0.7822:0.0	.	441;425	Q59H14;Q13349	.;ITAD_HUMAN	H	441;425	ENSP00000373854:R425H	ENSP00000373854:R425H	R	+	2	0	ITGAD	31329618	0.835000	0.29415	0.993000	0.49108	0.220000	0.24768	3.197000	0.51028	0.187000	0.20147	0.197000	0.17608	CGC		TCGA-IB-7651-01A-11D-2154-08	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	1	0	0	71	297	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	69	288	0	56	2								-3.355185	1	1	121412	1	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN10	84891	broad.mit.edu	37	16	3142764	3142764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3142764G>A	ENST00000252463.2	-	1	97	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M|ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10			24					AGGGACGCCCGTGGCCCCATG	0.657000																								0							SO:0001583	missense			ENST00000252463.2	1	1	hg19	CCDS10493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.741812|1.741812	0.30865|0.30865	.|.	.|.	ENSG00000130182|ENSG00000130182	ENST00000252463|ENST00000538082	T|.	0.05580|.	3.42|.	5.39|5.39	0.17|0.17	0.15021|0.15021	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);|.	0.145945|.	0.31279|.	N|.	0.007926|.	T|T	0.55465|0.55465	0.1922|0.1922	M|M	0.85859|0.85859	2.78|2.78	0.09310|0.09310	N|N	1|1	D|B	0.69078|0.28055	0.997|0.199	P|B	0.58077|0.25140	0.832|0.058	T|T	0.52815|0.52815	-0.8525|-0.8525	10|8	0.87932|0.42905	D|T	0|0.14	-39.5061|-39.5061	13.0515|13.0515	0.58958|0.58958	0.0:0.0:0.4185:0.5815|0.0:0.0:0.4185:0.5815	.|.	4|26	Q96SZ4|Q1WWM2	ZSC10_HUMAN|.	W|M	4|26	ENSP00000252463:R4W|.	ENSP00000252463:R4W|ENSP00000440047:T26M	R|T	-|-	1|2	2|0	ZSCAN10|ZSCAN10	3082765|3082765	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.116000|-0.116000	0.10724|0.10724	0.156000|0.156000	0.19299|0.19299	-0.277000|-0.277000	0.10078|0.10078	CGG|ACG		TCGA-IB-7651-01A-11D-2154-08	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	1	0	0	24	79	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999999e-01	24	77	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ARMC5	79798	broad.mit.edu	37	16	31478178	31478178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31478178G>T	ENST00000563544.1	+	7	3322	c.2776G>T	c.(2776-2778)Ggg>Tgg	p.G926W	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Missense_Mutation_p.G1021W|ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5			28					TGTGGTGATGGGGATTGAGTT	0.637000																								0							SO:0001583	missense			ENST00000563544.1	0	1	hg19	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682392	0.68157	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.59502	1.29;1.43;1.52;0.26	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000007	T	0.60534	0.2276	N	0.14661	0.345	0.45161	D	0.998174	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.66252	-0.5970	10	0.87932	D	0	-30.0352	13.8303	0.63377	0.0:0.0:1.0:0.0	.	958;958;1021;926	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	W	1021;958;926;570	ENSP00000386125:G1021W;ENSP00000443995:G958W;ENSP00000268314:G926W;ENSP00000400183:G570W	ENSP00000268314:G926W	G	+	1	0	ARMC5	31385679	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.971000	0.63749	2.636000	0.89361	0.448000	0.29417	GGG		TCGA-IB-7651-01A-11D-2154-08	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	1	0	0	7	105	0	19	1	5.296047e-01	3	23	0	19	2		0	0	0	0	0	2	1	9.811207e-01	7	104	0	19	2								-11.515030	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.850000	0.360000	1.000000	1.000000	0.806233	0.850000	1	5.600000e-01	1
SLC5A2	6524	broad.mit.edu	37	16	31499495	31499495	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31499495G>T	ENST00000330498.3	+	8	1040		c.e8+1		AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2			25				Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CTGTACCCAGGTAACATCCCT	0.627000																								0							SO:0001630	splice_region_variant			ENST00000330498.3	1	1	hg19	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	g	11.58	1.681357	0.29872	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9502	0.64111	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A2	31406996	1.000000	0.71417	0.940000	0.37924	0.083000	0.17756	9.409000	0.97331	2.136000	0.66102	0.457000	0.33378	.		TCGA-IB-7651-01A-11D-2154-08	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2	0	0	1	161	765	0	187		0	0	0	0	187	2		0	0	0	0	0	2	1	1	160	753	0	184	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A2	6524	broad.mit.edu	37	16	31501753	31501753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31501753G>A	ENST00000330498.3	+	14	1935	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q	C16orf58_ENST00000570164.1_3'UTR|AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2			25				Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCAGCCAGGCGGCTGGAGGAC	0.647000																								0							SO:0001583	missense			ENST00000330498.3	1	1	hg19	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768689	0.49680	.	.	ENSG00000140675	ENST00000330498	D	0.92647	-3.08	5.39	-2.0	0.07433	.	0.715087	0.13852	N	0.358262	D	0.84750	0.5541	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.69339	-0.5171	10	0.25106	T	0.35	.	9.7626	0.40541	0.7106:0.0:0.2894:0.0	.	639	P31639	SC5A2_HUMAN	Q	639	ENSP00000327943:R639Q	ENSP00000327943:R639Q	R	+	2	0	SLC5A2	31409254	0.000000	0.05858	0.991000	0.47740	0.781000	0.44180	-0.391000	0.07323	-0.193000	0.10415	-0.254000	0.11334	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2	1	0	0	40	112	0	18	1	1	67	162	0	18	2		0	0	0	0	0	2	1	1	39	112	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF205	7755	broad.mit.edu	37	16	3170128	3170128	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3170128G>A	ENST00000382192.3	+	7	1672	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205			20					GCCACAGCTCGCACCTCACCG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000382192.3	1	1	hg19	CCDS10494.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	1	0	1	120	503	0	99	1	9.970751e-01	16	23	0	99	2		0	0	0	0	0	2	1	1	119	499	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF213	7760	broad.mit.edu	37	16	3187397	3187397	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3187397G>T	ENST00000396878.3	+	2	591	c.116G>T	c.(115-117)aGg>aTg	p.R39M	RP11-473M20.14_ENST00000575089.1_RNA|ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M|ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M|RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000416391.2_5'Flank|RP11-473M20.14_ENST00000576590.1_RNA|RP11-473M20.14_ENST00000571449.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213			16					GAGGATGGCAGGGATTCCGAA	0.622000																								0							SO:0001583	missense			ENST00000396878.3	1	1	hg19	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	5.818	0.335251	0.11013	.	.	ENSG00000085644	ENST00000396878	T	0.05717	3.4	5.12	1.98	0.26296	Retrovirus capsid, C-terminal (1);	0.760921	0.11583	N	0.549599	T	0.10380	0.0254	L	0.43152	1.355	0.09310	N	1	P	0.52577	0.954	P	0.52109	0.69	T	0.21930	-1.0231	10	0.66056	D	0.02	.	6.7552	0.23510	0.189:0.184:0.627:0.0	.	39	O14771	ZN213_HUMAN	M	39	ENSP00000380087:R39M	ENSP00000380087:R39M	R	+	2	0	ZNF213	3127398	0.000000	0.05858	0.350000	0.25708	0.663000	0.39108	0.087000	0.14958	0.581000	0.29539	-0.140000	0.14226	AGG		TCGA-IB-7651-01A-11D-2154-08	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	1	0	1	60	300	0	78	1	9.718792e-01	6	25	0	78	2		0	0	0	0	0	2	1	1	59	294	0	78	2								-2.771377	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF213	7760	broad.mit.edu	37	16	3191230	3191230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3191230G>A	ENST00000396878.3	+	6	1737	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213			16					GACCATCGGCGTGTGCACACC	0.657000																								0							SO:0001583	missense			ENST00000396878.3	1	1	hg19	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083241	0.76642	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.25749	1.78;1.78	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000621	T	0.54159	0.1841	M	0.81112	2.525	0.37749	D	0.925892	D	0.89917	1.0	D	0.91635	0.999	T	0.64437	-0.6408	10	0.87932	D	0	.	15.9873	0.80168	0.0:0.0:1.0:0.0	.	421	O14771	ZN213_HUMAN	H	421;263	ENSP00000380087:R421H;ENSP00000403892:R263H	ENSP00000380087:R421H	R	+	2	0	ZNF213	3131231	0.004000	0.15560	0.958000	0.39756	0.981000	0.71138	1.334000	0.33827	2.365000	0.80145	0.462000	0.41574	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	1	0	1	83	314	0	74	1	9.655317e-01	8	15	0	74	2		0	0	0	0	0	2	1	1	82	308	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF267	10308	broad.mit.edu	37	16	31925867	31925867	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31925867A>G	ENST00000300870.10	+	4	506	c.297A>G	c.(295-297)atA>atG	p.I99M	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267			41					AAAAAGTGATATCGAGGAGAC	0.373000																								0							SO:0001583	missense			ENST00000300870.10	1	1	hg19	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	3.370	-0.128715	0.06753	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.08102	3.13	0.593	-1.19	0.09585	.	.	.	.	.	T	0.08980	0.0222	L	0.41492	1.28	0.09310	N	1	P	0.51240	0.943	P	0.52598	0.703	T	0.19289	-1.0310	9	0.24483	T	0.36	.	1.5643	0.02601	0.3561:0.3213:0.0:0.3226	.	99	Q14586	ZN267_HUMAN	M	99;66	ENSP00000300870:I99M	ENSP00000300870:I99M	I	+	3	3	ZNF267	31833368	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	-0.489000	0.06490	-0.548000	0.06199	0.254000	0.18369	ATA		TCGA-IB-7651-01A-11D-2154-08	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1	100	358	0	78	1	9.999994e-01	23	53	0	78	2		0	0	0	0	0	2	1	1	100	348	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF267	10308	broad.mit.edu	37	16	31926727	31926727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31926727G>A	ENST00000300870.10	+	4	1366	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267			41					AAAGCATGTAGCAAATCTTTT	0.363000																								0							SO:0001583	missense			ENST00000300870.10	1	1	hg19	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	8.336	0.827568	0.16749	.	.	ENSG00000185947	ENST00000300870	T	0.15017	2.46	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.20845	0.615	0.80722	D	1	B	0.31931	0.347	B	0.17722	0.019	T	0.21109	-1.0255	9	0.72032	D	0.01	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	386	Q14586	ZN267_HUMAN	N	386	ENSP00000300870:S386N	ENSP00000300870:S386N	S	+	2	0	ZNF267	31834228	0.989000	0.36119	0.055000	0.19348	0.050000	0.14768	0.778000	0.26732	0.482000	0.27582	0.484000	0.47621	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1	108	365	0	90	1	9.989404e-01	6	31	0	90	2		0	0	0	0	0	2	1	1	106	351	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF267	10308	broad.mit.edu	37	16	31927189	31927189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927189G>T	ENST00000300870.10	+	4	1828	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267			41					GTGCATGAGAGAATTCATACT	0.343000																								0							SO:0001583	missense			ENST00000300870.10	1	1	hg19	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	7.610	0.674609	0.14841	.	.	ENSG00000185947	ENST00000300870	T	0.02446	4.29	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.44359	0.447	T	0.50162	-0.8860	9	0.54805	T	0.06	.	6.6931	0.23183	1.0E-4:0.0:0.9999:0.0	.	540	Q14586	ZN267_HUMAN	I	540	ENSP00000300870:R540I	ENSP00000300870:R540I	R	+	2	0	ZNF267	31834690	0.000000	0.05858	0.108000	0.21378	0.095000	0.18619	0.278000	0.18753	0.482000	0.27582	0.484000	0.47621	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1	41	230	0	33	1	9.852224e-01	5	35	0	33	2		0	0	0	0	0	2	1	1	39	226	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ZNF267	10308	broad.mit.edu	37	16	31927755	31927755	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927755T>C	ENST00000300870.10	+	4	2394	c.2185T>C	c.(2185-2187)Tca>Cca	p.S729P		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267			41					TAACTCTAGGTCATACCTCAT	0.388000																								0							SO:0001583	missense			ENST00000300870.10	1	1	hg19	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	10.84	1.463235	0.26248	.	.	ENSG00000185947	ENST00000300870	T	0.32988	1.43	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28962	0.0719	M	0.76002	2.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40079	-0.9582	9	0.72032	D	0.01	.	2.6393	0.04966	0.0:0.3837:0.0:0.6163	.	729	Q14586	ZN267_HUMAN	P	729	ENSP00000300870:S729P	ENSP00000300870:S729P	S	+	1	0	ZNF267	31835256	0.000000	0.05858	0.215000	0.23724	0.201000	0.24016	-0.131000	0.10482	0.413000	0.25759	0.402000	0.26972	TCA		TCGA-IB-7651-01A-11D-2154-08	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1	35	249	0	68	1	9.950794e-01	17	44	0	68	2		0	0	0	0	0	2	1	1	35	244	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999485	0.990000	1	9.900000e-01	1
MEFV	4210	broad.mit.edu	37	16	3293600	3293600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3293600C>T	ENST00000219596.1	-	10	1926	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	MEFV_ENST00000339854.4_Silent_p.L449L|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.L418L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever			50					GGCCATCAGGCAGCCTCTCCC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000219596.1	1	1	hg19	CCDS10498.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	1	0	1	290	1317	0	324	0	2.242247e-01	0	5	0	324	2		0	0	0	0	0	2	1	1	285	1289	0	322	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGDIG	398	broad.mit.edu	37	16	331765	331765	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:331765G>A	ENST00000219409.3	+	2	168	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PDIA2_ENST00000404312.1_5'Flank|PDIA2_ENST00000219406.6_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma			3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)			CTGACAAGGAGGGTGGGCCGC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000219409.3	0	1	hg19	CCDS10404.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1	0	0	0	18	81	0	15	1	1.659252e-01	2	2	0	15	2		0	0	0	0	0	2	1	9.999886e-01	18	79	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999912	0.990000	1	9.900000e-01	1
ZNF263	10127	broad.mit.edu	37	16	3333885	3333885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3333885G>A	ENST00000219069.5	+	1	943	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263			20					GGAGGACTGCGCCTGGAGCCA	0.677000																								0							SO:0001583	missense			ENST00000219069.5	1	1	hg19	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096876	0.08681	.	.	ENSG00000006194	ENST00000219069	T	0.04809	3.55	5.06	3.08	0.35506	.	0.623424	0.15188	N	0.275713	T	0.02455	0.0075	N	0.14661	0.345	0.29067	N	0.883524	B;B	0.13594	0.008;0.001	B;B	0.08055	0.003;0.001	T	0.40942	-0.9536	10	0.02654	T	1	.	7.4218	0.27075	0.1935:0.0:0.8065:0.0	.	23;23	O14978;D3DUC1	ZN263_HUMAN;.	T	23	ENSP00000219069:A23T	ENSP00000219069:A23T	A	+	1	0	ZNF263	3273886	0.021000	0.18746	0.999000	0.59377	0.980000	0.70556	0.319000	0.19522	1.468000	0.48064	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2	1	0	1	32	273	0	34	1	9.590491e-01	5	42	0	34	2		0	0	0	0	0	2	1	1	32	265	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.900000	1.000000	1.000000	0.994132	0.990000	1	9.900000e-01	1
ZNF263	10127	broad.mit.edu	37	16	3338556	3338556	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3338556G>T	ENST00000219069.5	+	5	1748	c.872G>T	c.(871-873)aGa>aTa	p.R291I	ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263			20					CTGAGCCCCAGAGGCCCAGCT	0.547000																								0							SO:0001583	missense			ENST00000219069.5	1	1	hg19	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	4.403	0.074462	0.08485	.	.	ENSG00000006194	ENST00000219069	T	0.05855	3.38	5.5	3.31	0.37934	.	0.552403	0.16687	N	0.203685	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	0.999994	B	0.22480	0.07	B	0.25759	0.063	T	0.38802	-0.9644	10	0.38643	T	0.18	.	8.8994	0.35485	0.1948:0.0:0.8052:0.0	.	291	O14978	ZN263_HUMAN	I	291	ENSP00000219069:R291I	ENSP00000219069:R291I	R	+	2	0	ZNF263	3278557	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.366000	0.20365	1.300000	0.44818	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2	1	0	1	29	184	0	47	1	9.939874e-01	10	44	0	47	2		0	0	0	0	0	2	1	1	29	180	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999757	0.990000	1	9.900000e-01	1
PDIA2	64714	broad.mit.edu	37	16	335387	335387	+	Missense_Mutation	SNP	C	C	T	rs139827174	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:335387C>T	ENST00000219406.6	+	6	889	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2			17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)			GGCTGCGCACCGGGAGCTCCT	0.667000																								0							SO:0001583	missense			ENST00000219406.6	1	1	hg19	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.398440	0.25205	5.05E-4	2.41E-4	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.14893	2.47;2.47	3.87	-5.16	0.02857	Thioredoxin-like fold (1);	0.825023	0.10819	N	0.630708	T	0.25865	0.0630	L	0.47716	1.5	0.09310	N	1	D	0.61080	0.989	P	0.58970	0.849	T	0.30031	-0.9992	10	0.87932	D	0	.	12.8524	0.57864	0.1846:0.7175:0.0:0.0979	.	291	Q13087	PDIA2_HUMAN	W	291;260;288	ENSP00000219406:R291W;ENSP00000384410:R288W	ENSP00000219406:R291W	R	+	1	2	PDIA2	275388	0.012000	0.17670	0.622000	0.29159	0.059000	0.15707	0.974000	0.29436	-0.593000	0.05844	-0.509000	0.04479	CGG		TCGA-IB-7651-01A-11D-2154-08	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	1	0	1	54	170	0	32	0	9.998132e-01	1	43	0	32	2		0	0	0	0	0	2	1	1	54	166	0	29	2								-20.000000	1	1	120714	9	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2C1	4993	broad.mit.edu	37	16	3406685	3406685	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3406685T>C	ENST00000304936.2	+	1	797	c.745T>C	c.(745-747)Ttc>Ctc	p.F249L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1			12					GCTGGTGGTGTTCCTCTTCTA	0.542000																								0							SO:0001583	missense			ENST00000304936.2	1	1	hg19	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	t	2.689	-0.273511	0.05679	.	.	ENSG00000168158	ENST00000304936	T	0.34072	1.38	5.0	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	1.444030	0.05098	N	0.486474	T	0.18087	0.0434	N	0.05031	-0.125	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.23691	-1.0181	10	0.49607	T	0.09	.	5.3433	0.15996	0.0:0.2708:0.2594:0.4699	.	249	O95371	OR2C1_HUMAN	L	249	ENSP00000307726:F249L	ENSP00000307726:F249L	F	+	1	0	OR2C1	3346686	0.000000	0.05858	0.244000	0.24202	0.114000	0.19823	-0.662000	0.05305	-0.504000	0.06577	-1.288000	0.01363	TTC		TCGA-IB-7651-01A-11D-2154-08	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3	1	0	1	106	356	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	105	348	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AXIN1	8312	broad.mit.edu	37	16	347979	347979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:347979G>A	ENST00000262320.3	-	6	1898	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	AXIN1_ENST00000354866.3_Silent_p.A509A|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1			221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)			GCCCCGAGGCGGCACCCCCCA	0.706000																								0							SO:0001819	synonymous_variant			ENST00000262320.3	1	1	hg19	CCDS10405.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3	1	0	1	24	97	0	25	1	9.974313e-01	23	19	0	25	2		0	0	0	0	1	2	1	9.999998e-01	23	94	0	24	2								-20.000000	1	1	120442	2	23	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
C16orf90	646174	broad.mit.edu	37	16	3544819	3544819	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3544819G>A	ENST00000437192.3	-	2	107	c.105C>T	c.(103-105)taC>taT	p.Y35Y	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90			1					GGCCCCCCTCGTAGATGTTGG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000437192.3	1	1	hg19	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.864105	0.17250	0.0	3.72E-4	ENSG00000215131	ENST00000399645	.	.	.	5.7	-1.31	0.09230	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0974	9.0821	0.36558	0.592:0.0:0.408:0.0	.	.	.	.	X	44	.	.	R	-	1	2	C16orf90	3484820	0.799000	0.28903	0.976000	0.42696	0.917000	0.54804	-0.431000	0.06965	-0.488000	0.06726	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	1	0	1	36	138	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1	35	136	0	23	2								-20.000000	1	1	120070	14	37	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLUAP1	23059	broad.mit.edu	37	16	3569998	3569998	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3569998A>G	ENST00000576634.1	+	7	819	c.675A>G	c.(673-675)gaA>gaG	p.E225E	CLUAP1_ENST00000571025.1_Silent_p.E225E|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000572600.1_Silent_p.E59E|CLUAP1_ENST00000341633.5_Silent_p.E225E	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1			16					TAGAACTGGAAAGAAATCGGA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000576634.1	1	1	hg19	CCDS32381.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	1	0	1	117	466	0	136	1	1	32	90	0	136	2		0	0	0	0	0	2	1	1	115	454	0	136	2								-20.000000	1	1	121412	3	31	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AXIN1	8312	broad.mit.edu	37	16	360044	360044	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:360044G>A	ENST00000262320.3	-	4	1416	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	p.R349C(1)		221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)			TGCTGCTTACGGATCCTGTAT	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262320.3	1	1	hg19	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010028	0.54361	0.0	1.16E-4	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82893	-1.66;-1.66	4.84	4.84	0.62591	.	0.057737	0.64402	D	0.000001	D	0.89111	0.6622	M	0.78801	2.425	0.80722	D	1	D;D	0.61080	0.987;0.989	P;P	0.55087	0.768;0.667	D	0.91021	0.4857	10	0.87932	D	0	14.04	17.9962	0.89185	0.0:0.0:1.0:0.0	.	349;349	O15169-2;O15169	.;AXIN1_HUMAN	C	349	ENSP00000262320:R349C;ENSP00000346935:R349C	ENSP00000262320:R349C	R	-	1	0	AXIN1	300045	1.000000	0.71417	0.939000	0.37840	0.174000	0.22865	7.486000	0.81215	2.257000	0.74773	0.456000	0.33151	CGT		TCGA-IB-7651-01A-11D-2154-08	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3	1	0	1	16	83	0	33	1	9.999871e-01	42	71	0	33	2		0	0	0	0	0	2	1	9.999474e-01	16	80	0	31	2								-20.000000	1	1	121334	2	26	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999514	0.990000	1	9.900000e-01	1
NLRC3	197358	broad.mit.edu	37	16	3613437	3613437	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3613437G>A	ENST00000301749.7	-	0	1906				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3			34					TGCATGGCCCGCTGGGCTGCG	0.657000																								0											ENST00000301749.7	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	14.23	2.472651	0.43942	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.09	-1.14	0.09741	.	0.068615	0.64402	D	0.000017	D	0.89350	0.6690	.	.	.	0.23981	N	0.996276	D	0.76494	0.999	P	0.61477	0.889	D	0.84616	0.0681	9	0.87932	D	0	.	14.2232	0.65841	0.0:0.0:0.4064:0.5936	.	548	C9JLH9	.	W	501;501;501;548;483	ENSP00000301749:R501W;ENSP00000352039:R501W;ENSP00000414415:R548W;ENSP00000323897:R483W	ENSP00000301749:R501W	R	-	1	2	NLRC3	3553438	0.994000	0.37717	0.991000	0.47740	0.990000	0.78478	0.261000	0.18442	0.169000	0.19679	-0.152000	0.13540	CGG		TCGA-IB-7651-01A-11D-2154-08	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		1	0	1	16	39	0	12	0	8.622195e-01	0	11	0	12	2		0	0	0	0	0	2	1	9.999724e-01	16	38	0	12	2								-20.000000	1	1	119674	1	30	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
NLRC3	197358	broad.mit.edu	37	16	3614177	3614177	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614177C>T	ENST00000301749.7	-	0	1166				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3			34					GAGGTTGCCACGGATGATGTT	0.602000																								0											ENST00000301749.7	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	16.94	3.259544	0.59321	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.89065	0.6609	.	.	.	0.27180	N	0.960699	D	0.89917	1.0	D	0.91635	0.999	D	0.83701	0.0182	9	0.72032	D	0.01	.	15.6704	0.77270	0.0:1.0:0.0:0.0	.	301	C9JLH9	.	H	254;254;254;301;236	ENSP00000301749:R254H;ENSP00000352039:R254H;ENSP00000414415:R301H;ENSP00000323897:R236H	ENSP00000301749:R254H	R	-	2	0	NLRC3	3554178	1.000000	0.71417	0.620000	0.29132	0.359000	0.29487	4.890000	0.63178	2.273000	0.75805	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		1	0	0	11	181	0	48	0	6.818739e-02	0	7	0	48	2		0	0	0	0	0	2	1	9.983916e-01	11	179	0	48	2								-14.386880	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.750000	0.380000	1.000000	1.000000	0.763945	0.750000	0	5.400000e-01	1
NLRC3	197358	broad.mit.edu	37	16	3614447	3614447	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614447T>C	ENST00000301749.7	-	0	896				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3			34					GACCTGCCCATGGGCCCAGAG	0.652000																								0											ENST00000301749.7	1	0	hg19		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.104095	0.00356	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.93	0.605	0.17553	.	0.490181	0.20083	N	0.099603	T	0.61160	0.2325	.	.	.	0.19300	N	0.99997	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	9	0.14252	T	0.57	.	7.8904	0.29675	0.0:0.6419:0.0:0.3581	.	211	C9JLH9	.	R	164;164;164;211;146	ENSP00000301749:H164R;ENSP00000352039:H164R;ENSP00000414415:H211R;ENSP00000323897:H146R	ENSP00000301749:H164R	H	-	2	0	NLRC3	3554448	0.001000	0.12720	0.194000	0.23346	0.894000	0.52154	-0.131000	0.10482	0.138000	0.18790	-0.177000	0.13119	CAT		TCGA-IB-7651-01A-11D-2154-08	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		1	0	1	73	301	0	52	0	3.915289e-02	0	2	0	52	2		0	0	0	0	0	2	1	1	71	286	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAP1	10131	broad.mit.edu	37	16	3713514	3713514	+	Missense_Mutation	SNP	C	C	T	rs141361125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3713514C>T	ENST00000246957.5	-	14	1707	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	TRAP1_ENST00000538171.1_Missense_Mutation_p.R487H|TRAP1_ENST00000573872.1_5'Flank|DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R331H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1			19		Ovarian(90;0.0261)			GTCAAACTCACGAAGGTGCAG	0.567000																								0							SO:0001583	missense			ENST00000246957.5	1	1	hg19	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236201	0.58886	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.83	4.88	0.63580	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	L	0.52266	1.64	0.58432	D	0.999999	B;B	0.16396	0.013;0.017	B;B	0.16289	0.008;0.015	T	0.07770	-1.0755	10	0.12430	T	0.62	-9.1608	14.3252	0.66515	0.0:0.9286:0.0:0.0714	.	487;540	F5H897;Q12931	.;TRAP1_HUMAN	H	540;487	ENSP00000246957:R540H;ENSP00000442070:R487H	ENSP00000246957:R540H	R	-	2	0	TRAP1	3653515	0.724000	0.28038	0.195000	0.23364	0.957000	0.61999	3.333000	0.52090	1.474000	0.48178	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	0	0	0	51	491	1	98	1	9.982535e-01	42	242	1	98	12		0	0	0	0	0	2	1	1	49	483	0	98	2								-15.554220	1	1	121412	2	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.860000	1.000000	1.000000	0.989267	0.990000	1	9.900000e-01	1
TRAP1	10131	broad.mit.edu	37	16	3722703	3722703	+	Missense_Mutation	SNP	C	C	T	rs148180859	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3722703C>T	ENST00000246957.5	-	10	1251	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	TRAP1_ENST00000538171.1_Missense_Mutation_p.R335Q|TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000575671.1_Missense_Mutation_p.R179Q	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1			19		Ovarian(90;0.0261)			CAGCGTACCTCGGATGAAGCG	0.637000																								0							SO:0001583	missense			ENST00000246957.5	1	0	hg19	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574950	0.86542	0.0	6.98E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09911	2.93;2.93	5.35	5.35	0.76521	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	M	0.76727	2.345	0.80722	D	1	P;P	0.42941	0.756;0.794	B;P	0.46659	0.388;0.523	T	0.00581	-1.1660	10	0.52906	T	0.07	-19.8289	18.3915	0.90485	0.0:1.0:0.0:0.0	.	335;388	F5H897;Q12931	.;TRAP1_HUMAN	Q	388;335	ENSP00000246957:R388Q;ENSP00000442070:R335Q	ENSP00000246957:R388Q	R	-	2	0	TRAP1	3662704	1.000000	0.71417	0.975000	0.42487	0.215000	0.24574	5.675000	0.68123	2.665000	0.90641	0.491000	0.48974	CGA		TCGA-IB-7651-01A-11D-2154-08	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	1	0	1	22	59	0	13	1	1	141	168	0	13	2		0	0	0	0	0	2	1	9.999997e-01	22	59	0	12	2								-3.040148	1	0	121304	32	43	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAP1	10131	broad.mit.edu	37	16	3724437	3724437	+	Missense_Mutation	SNP	C	C	T	rs151069865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3724437C>T	ENST00000246957.5	-	9	1035	c.947G>A	c.(946-948)cGc>cAc	p.R316H	TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000575671.1_Missense_Mutation_p.R107H	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1			19		Ovarian(90;0.0261)			CGCGACGTAGCGGTAGAACTC	0.607000																								0							SO:0001583	missense			ENST00000246957.5	1	1	hg19	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000810	0.74818	4.55E-4	0.0	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09630	2.96;2.96	5.82	5.82	0.92795	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.65677	2.01	0.80722	D	1	P;P	0.51449	0.933;0.945	P;P	0.57324	0.586;0.818	T	0.00198	-1.1929	10	0.72032	D	0.01	-28.6882	19.0936	0.93240	0.0:1.0:0.0:0.0	.	263;316	F5H897;Q12931	.;TRAP1_HUMAN	H	316;263	ENSP00000246957:R316H;ENSP00000442070:R263H	ENSP00000246957:R316H	R	-	2	0	TRAP1	3664438	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.424000	0.80242	2.757000	0.94681	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	1	0	1	31	206	0	38	1	1	172	209	0	38	2		0	0	0	0	0	2	1	1	31	203	0	37	2								-3.320199	1	1	121410	2	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999668	0.990000	1	9.900000e-01	1
TRAP1	10131	broad.mit.edu	37	16	3740954	3740954	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3740954C>A	ENST00000246957.5	-	2	209	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1			19		Ovarian(90;0.0261)			CCCAACTGGGCTGTGGTCCTC	0.527000											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000246957.5	1	1	hg19	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129480	0.56721	.	.	ENSG00000126602	ENST00000246957	T	0.14022	2.54	5.61	3.63	0.41609	.	1.396980	0.04856	N	0.443279	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31916	-0.9926	10	0.36615	T	0.2	-15.4687	5.0127	0.14321	0.1384:0.5165:0.2688:0.0764	.	41	Q12931	TRAP1_HUMAN	S	41	ENSP00000246957:A41S	ENSP00000246957:A41S	A	-	1	0	TRAP1	3680955	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.159000	0.10056	0.703000	0.31848	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	1	0	1	48	227	0	56	1	1	57	75	0	56	2		0	0	0	0	0	2	1	1	47	224	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CREBBP	1387	broad.mit.edu	37	16	3778862	3778862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3778862G>A	ENST00000262367.5	-	31	6995	c.6186C>T	c.(6184-6186)atC>atT	p.I2062I	CREBBP_ENST00000382070.3_Silent_p.I2024I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein			295		Ovarian(90;0.0266)			CGCTGGGTGAGATGCTCCTGG	0.652000			T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL 		Rubinstein-Taybi syndrome								Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0							SO:0001819	synonymous_variant			ENST00000262367.5	1	1	hg19	CCDS10509.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	1	0	0	26	403	0	46	1	9.006047e-01	3	61	0	46	2		0	0	0	0	0	2	1	9.999999e-01	26	393	0	46	2								-20.000000	1	1	121382	2	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.760000	0.500000	1.000000	1.000000	0.786561	0.760000	0	6.100000e-01	1
CREBBP	1387	broad.mit.edu	37	16	3807335	3807335	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3807335G>T	ENST00000262367.5	-	19	4461	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein			295		Ovarian(90;0.0266)			ATGGTACACAGCTGCTTCCCA	0.413000			T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL 		Rubinstein-Taybi syndrome								Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0							SO:0001583	missense			ENST00000262367.5	1	1	hg19	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328756	0.41197	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.85013	-1.93;-1.86	6.04	5.0	0.66597	Domain of unknown function DUF902, CREBbp (1);	0.000000	0.64402	D	0.000017	D	0.89649	0.6776	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88591	0.3143	10	0.36615	T	0.2	-20.96	14.8977	0.70656	0.073:0.0:0.927:0.0	.	1248;1218	Q4LE28;Q92793	.;CBP_HUMAN	M	1218;1248;1180	ENSP00000262367:L1218M;ENSP00000371502:L1180M	ENSP00000262367:L1218M	L	-	1	2	CREBBP	3747336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.291000	0.51764	1.405000	0.46838	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	0	0	0	19	85	1	19	1	7.883386e-01	28	79	1	19	16		0	0	0	0	0	2	1	7.609141e-01	19	85	1	19	16								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
ADCY9	115	broad.mit.edu	37	16	4029235	4029235	+	Missense_Mutation	SNP	C	C	T	rs142198070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4029235C>T	ENST00000294016.3	-	8	3099	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9			47					CTCCAGCAGGCGCTTGGTGCA	0.662000																								0							SO:0001583	missense			ENST00000294016.3	1	1	hg19	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577186	0.45902	2.28E-4	0.0	ENSG00000162104	ENST00000294016	D	0.83335	-1.71	5.54	2.08	0.27032	.	0.544492	0.20631	N	0.088598	T	0.69700	0.3140	L	0.27053	0.805	0.30493	N	0.771183	B	0.09022	0.002	B	0.04013	0.001	T	0.58446	-0.7635	10	0.13470	T	0.59	.	12.0346	0.53417	0.0:0.7791:0.0:0.2209	.	854	O60503	ADCY9_HUMAN	H	854	ENSP00000294016:R854H	ENSP00000294016:R854H	R	-	2	0	ADCY9	3969236	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.107000	0.15375	0.713000	0.32060	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	1	0	1	73	355	0	66	1	9.992118e-01	18	35	0	66	2		0	0	0	0	0	2	1	1	68	345	0	61	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY9	115	broad.mit.edu	37	16	4163832	4163832	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4163832A>G	ENST00000294016.3	-	2	2150	c.1612T>C	c.(1612-1614)Tac>Cac	p.Y538H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9			47					TCATCTAAGTATTTTGCGGTG	0.498000																								0							SO:0001583	missense			ENST00000294016.3	1	1	hg19	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653982	0.47362	.	.	ENSG00000162104	ENST00000294016	T	0.81078	-1.45	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.063531	0.64402	D	0.000003	T	0.80265	0.4591	N	0.16478	0.41	0.50813	D	0.999899	D	0.69078	0.997	D	0.63488	0.915	T	0.79562	-0.1752	10	0.29301	T	0.29	.	15.4464	0.75235	1.0:0.0:0.0:0.0	.	538	O60503	ADCY9_HUMAN	H	538	ENSP00000294016:Y538H	ENSP00000294016:Y538H	Y	-	1	0	ADCY9	4103833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.064000	0.61679	0.454000	0.30748	TAC		TCGA-IB-7651-01A-11D-2154-08	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	1	0	1	138	522	0	107	1	9.999999e-01	28	60	0	107	2		0	0	0	0	0	2	1	1	132	511	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY9	115	broad.mit.edu	37	16	4164631	4164631	+	Silent	SNP	C	C	T	rs148841917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4164631C>T	ENST00000294016.3	-	2	1351	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9			47					CGGCTCCGGGCGAGGGGAAGC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000294016.3	1	1	hg19	CCDS32382.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	1	0	1	69	273	0	47	1	9.999984e-01	19	60	0	47	2		0	0	0	0	0	2	1	1	67	271	0	45	2								-3.274566	1	1	121396	66	47	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL28	10573	broad.mit.edu	37	16	419132	419132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:419132G>A	ENST00000199706.8	-	3	412	c.377C>T	c.(376-378)aCt>aTt	p.T126I	MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28			5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)			CATGGTCACAGTCACTGTGAA	0.547000																								0							SO:0001583	missense			ENST00000199706.8	1	1	hg19	CCDS32349.1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838861	0.16891	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675;ENST00000441883;ENST00000447696;ENST00000450882	T;T;T;T;T	0.33438	1.82;1.82;1.83;1.42;1.41	4.35	2.24	0.28232	.	0.156920	0.56097	D	0.000032	T	0.31575	0.0801	M	0.69823	2.125	0.49798	D	0.999828	P;P;P	0.36222	0.544;0.544;0.544	B;B;B	0.35510	0.204;0.204;0.204	T	0.31916	-0.9926	10	0.66056	D	0.02	-21.5801	10.7298	0.46089	0.1878:0.0:0.8122:0.0	.	126;126;126	A2IDC6;Q13084;Q4TT38	.;RM28_HUMAN;.	I	126	ENSP00000199706:T126I;ENSP00000374326:T126I;ENSP00000398684:T126I;ENSP00000390399:T126I;ENSP00000395305:T126I	ENSP00000199706:T126I	T	-	2	0	MRPL28	359133	1.000000	0.71417	0.068000	0.19968	0.002000	0.02628	4.373000	0.59537	1.061000	0.40601	-0.136000	0.14681	ACT		TCGA-IB-7651-01A-11D-2154-08	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2	1	0	1	78	330	0	75	1	1	129	238	0	75	2		0	0	0	0	0	2	1	1	78	322	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM8A	58986	broad.mit.edu	37	16	426714	426714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:426714G>A	ENST00000431232.2	-	5	894	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A			14					CAGGGTGACCGGGCCCACGGT	0.692000																								0							SO:0001583	missense			ENST00000431232.2	0	1	hg19	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	9.023	0.985263	0.18889	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.31769	1.92;1.48	4.1	-1.8	0.07907	.	1.025100	0.07779	N	0.953031	T	0.21468	0.0517	L	0.38175	1.15	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.28522	-1.0041	10	0.40728	T	0.16	-16.4183	6.0529	0.19794	0.3762:0.1241:0.4997:0.0	.	245	Q9HCN3	TMM8A_HUMAN	L	245;52	ENSP00000401338:P245L;ENSP00000250930:P52L	ENSP00000250930:P52L	P	-	2	0	TMEM8A	366715	0.767000	0.28508	0.016000	0.15963	0.693000	0.40251	0.980000	0.29513	-0.539000	0.06273	0.305000	0.20034	CCG		TCGA-IB-7651-01A-11D-2154-08	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	1	0	1	24	163	0	23	1	1	35	186	0	23	2		0	0	0	0	0	2	1	9.999998e-01	23	161	0	23	2								-3.321548	1	1	120910	1	22	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.998882	0.990000	1	9.900000e-01	1
CORO7	79585	broad.mit.edu	37	16	4409543	4409543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4409543C>T	ENST00000251166.4	-	22	2333	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Missense_Mutation_p.A712T|CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7			23					GTTGAGGGAGCCACGTCCAGG	0.667000											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000251166.4	1	1	hg19	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990845	0.74703	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.30714	1.52;1.52	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	1.895140	0.02286	N	0.069820	T	0.61825	0.2378	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D	0.89917	0.971;1.0;1.0;0.989;0.99	P;D;D;P;P	0.91635	0.796;0.999;0.993;0.824;0.897	T	0.18209	-1.0344	10	0.52906	T	0.07	-16.4401	14.1279	0.65233	0.1503:0.8497:0.0:0.0	.	645;712;510;730;711	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	T	730;645;510	ENSP00000251166:A730T;ENSP00000446221:A510T	ENSP00000251166:A730T	A	-	1	0	CORO7	4349544	1.000000	0.71417	0.989000	0.46669	0.010000	0.07245	4.287000	0.59001	2.649000	0.89929	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	1	0	1	41	241	0	37	1	9.999978e-01	21	98	0	37	2		0	0	0	0	0	2	1	1	40	239	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
DNAJA3	9093	broad.mit.edu	37	16	4491569	4491569	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4491569C>A	ENST00000262375.6	+	4	700	c.623C>A	c.(622-624)cCt>cAt	p.P208H	DNAJA3_ENST00000431375.2_Missense_Mutation_p.P55H|DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3			15					TTTGATCAGCCTCAGGAAGTA	0.428000																								0							SO:0001583	missense			ENST00000262375.6	0	1	hg19	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705733	0.89018	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.66280	-0.2;-0.19;0.88	5.79	4.83	0.62350	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.997;0.993;0.999	P;D;P	0.64595	0.864;0.927;0.907	T	0.78099	-0.2336	10	0.72032	D	0.01	-9.1381	14.4155	0.67148	0.0:0.928:0.0:0.072	.	55;208;208	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	H	208;208;55	ENSP00000262375:P208H;ENSP00000347445:P208H;ENSP00000393970:P55H	ENSP00000262375:P208H	P	+	2	0	DNAJA3	4431570	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.768000	0.85345	2.752000	0.94435	0.558000	0.71614	CCT		TCGA-IB-7651-01A-11D-2154-08	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1	0	0	0	12	264	0	58	1	9.780749e-01	16	128	0	58	2		0	0	0	0	0	2	1	9.990325e-01	12	257	0	58	2								-3.110441	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.570000	0.300000	1.000000	0.510000	0.630178	0.570000	0	4.100000e-01	1
NME4	4833	broad.mit.edu	37	16	449418	449418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:449418C>T	ENST00000219479.2	+	3	279	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	NME4_ENST00000450036.1_Missense_Mutation_p.R19W|DECR2_ENST00000397710.1_5'Flank|DECR2_ENST00000424398.2_5'Flank|DECR2_ENST00000219481.5_5'Flank|NME4_ENST00000397722.1_Missense_Mutation_p.R19W|NME4_ENST00000382940.4_Missense_Mutation_p.R97W	NM_005009.2	NP_005000.1	O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4			4		Hepatocellular(16;0.00015)			CCAGGACCTGCGGAGGAAGCC	0.632000																								0							SO:0001583	missense			ENST00000219479.2	1	1	hg19	CCDS10408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.08|12.08	1.831977|1.831977	0.32421|0.32421	.|.	.|.	ENSG00000103202|ENSG00000103202	ENST00000433358|ENST00000397722;ENST00000454619;ENST00000219479;ENST00000382940;ENST00000450036	.|T;T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42;0.42	4.74|4.74	-0.194|-0.194	0.13240|0.13240	.|.	.|0.575824	.|0.19021	.|N	.|0.124809	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.51550	.|0.673	T|T	0.66980|0.66980	-0.5786|-0.5786	5|10	.|0.87932	.|D	.|0	-5.5321|-5.5321	13.8811|13.8811	0.63682|0.63682	0.5062:0.4938:0.0:0.0|0.5062:0.4938:0.0:0.0	.|.	.|89	.|O00746	.|NDKM_HUMAN	V|W	84|19;19;89;97;19	.|ENSP00000380834:R19W;ENSP00000406317:R19W;ENSP00000219479:R89W;ENSP00000372398:R97W;ENSP00000389048:R19W	.|ENSP00000219479:R89W	A|R	+|+	2|1	0|2	NME4|NME4	389419|389419	0.021000|0.021000	0.18746|0.18746	0.001000|0.001000	0.08648|0.08648	0.345000|0.345000	0.29048|0.29048	1.056000|1.056000	0.30480|0.30480	0.161000|0.161000	0.19458|0.19458	-0.521000|-0.521000	0.04368|0.04368	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	NME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109256.2	1	0	1	240	844	0	205	1	1	30	269	0	205	2		0	0	0	0	0	2	1	1	237	833	0	201	2								-20.000000	1	1	121370	2	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DECR2	26063	broad.mit.edu	37	16	461408	461408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:461408C>T	ENST00000219481.5	+	8	847	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal			9		Hepatocellular(16;0.00015)			CAGCCCGCTGCAGAGGCTGGG	0.692000																								0							SO:0001587	stop_gained			ENST00000219481.5	0	1	hg19	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244166	0.59103	.	.	ENSG00000242612	ENST00000219481;ENST00000424398	.	.	.	5.33	4.35	0.52113	.	0.272166	0.43260	D	0.000583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.0866	0.64962	0.1518:0.8482:0.0:0.0	.	.	.	.	X	237;225	.	ENSP00000219481:Q237X	Q	+	1	0	DECR2	401409	1.000000	0.71417	0.997000	0.53966	0.582000	0.36321	3.819000	0.55686	1.195000	0.43115	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	1	0	1	69	299	0	52	1	9.999898e-01	3	72	0	52	2		0	0	0	0	0	2	1	1	68	293	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHCBP1	79801	broad.mit.edu	37	16	46629512	46629512	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46629512C>T	ENST00000303383.3	-	10	1682	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1			28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)			CTGCTGATGTCCGCACTGTGA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000303383.3	1	1	hg19	CCDS10720.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	1	0	1	49	387	0	84	0	7.024356e-01	1	20	0	84	2		0	0	0	0	0	2	1	1	49	379	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999257	0.990000	1	9.900000e-01	1
C16orf87	388272	broad.mit.edu	37	16	46843515	46843515	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46843515C>T	ENST00000285697.4	-	3	607	c.346G>A	c.(346-348)Gag>Aag	p.E116K	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87			5					TTGTTCATACCTCTTTCTTCC	0.383000																								0							SO:0001630	splice_region_variant			ENST00000285697.4	0	1	hg19	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177511	0.57692	.	.	ENSG00000155330	ENST00000285697	.	.	.	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25222	-1.0138	8	.	.	.	-6.9821	15.1206	0.72441	0.0:0.9316:0.0:0.0684	.	116	Q6PH81	CP087_HUMAN	K	116	.	.	E	-	1	0	C16orf87	45401016	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.943000	0.75934	1.541000	0.49316	0.585000	0.79938	GAG		TCGA-IB-7651-01A-11D-2154-08	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	0	0	0	87	851	1	176	0	7.983083e-01	0	45	1	176	3		0	0	0	0	0	2	1	1	86	822	1	175	18								-19.992710	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.900000	1.000000	1.000000	0.993504	0.990000	1	9.900000e-01	1
GPT2	84706	broad.mit.edu	37	16	46918680	46918680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46918680G>T	ENST00000340124.4	+	2	165	c.53G>T	c.(52-54)aGc>aTc	p.S18I	GPT2_ENST00000440783.2_5'Flank	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2			23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)		L-Alanine(DB00160)|Phenelzine(DB00780)	CGGACCCCCAGCTCCTGGGGC	0.721000																								0							SO:0001583	missense			ENST00000340124.4	0	1	hg19	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093386	0.36952	.	.	ENSG00000166123	ENST00000340124	D	0.83075	-1.68	4.92	4.92	0.64577	.	1.077360	0.07185	N	0.854704	T	0.72301	0.3443	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.53556	-0.8422	10	0.42905	T	0.14	.	15.1791	0.72941	0.0:0.0:1.0:0.0	.	18	Q8TD30	ALAT2_HUMAN	I	18	ENSP00000345282:S18I	ENSP00000345282:S18I	S	+	2	0	GPT2	45476181	0.479000	0.25925	0.367000	0.25926	0.088000	0.18126	2.108000	0.41854	2.434000	0.82447	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2	0	0	0	44	100	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	1	44	98	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJA2	10294	broad.mit.edu	37	16	47001552	47001552	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47001552G>A	ENST00000317089.5	-	5	665	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2			14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)			CAGACTTTCCGCCTTGGCTAA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000317089.5	1	1	hg19	CCDS10726.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2	1	0	1	131	547	0	123	1	1	106	339	0	123	2		0	0	0	0	0	2	1	1	127	534	0	122	2								-20.000000	1	1	121412	5	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITFG1	81533	broad.mit.edu	37	16	47195737	47195737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47195737G>A	ENST00000320640.6	-	16	1813	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1			19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)			TCTTGTTTTCGTATAGACTGG	0.328000																								0							SO:0001587	stop_gained			ENST00000320640.6	0	1	hg19	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733351	0.97796	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.41	1.6	0.23607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.0712	9.6162	0.39692	0.0707:0.0:0.4397:0.4895	.	.	.	.	X	529;189;274;416	.	ENSP00000319918:R529X	R	-	1	2	ITFG1	45753238	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	1.485000	0.35519	0.383000	0.24910	0.467000	0.42956	CGA		TCGA-IB-7651-01A-11D-2154-08	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	1	0	1	98	443	0	105	1	1	10	393	0	105	2		0	0	0	0	0	2	1	1	98	435	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGRN1	23295	broad.mit.edu	37	16	4732890	4732890	+	Silent	SNP	C	C	T	rs61734738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4732890C>T	ENST00000399577.5	+	14	1518	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	MGRN1_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000588994.1_Silent_p.D453D|MGRN1_ENST00000262370.7_Silent_p.D475D|MGRN1_ENST00000586183.1_Silent_p.D453D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase			18					AGGACGTGGACGCCCCTCCCC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000399577.5	1	1	hg19	CCDS45402.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2	1	0	1	27	112	0	38	1	1	47	159	0	38	2		0	0	0	0	0	2	1	1	26	110	0	36	2								-20.000000	1	1	120838	22	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ANKS3	124401	broad.mit.edu	37	16	4755101	4755101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4755101C>T	ENST00000304283.4	-	8	1157	c.863G>A	c.(862-864)cGc>cAc	p.R288H	ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H|ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H|ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3			19					CTCACCATAGCGAGGCCGTGG	0.597000																								0							SO:0001583	missense			ENST00000304283.4	1	1	hg19	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992886	0.35131	2.28E-4	0.0	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.36;3.11;0.89	5.94	1.73	0.24493	.	1.311960	0.04445	N	0.371542	T	0.35624	0.0938	L	0.40543	1.245	0.09310	N	1	B;B	0.21753	0.06;0.003	B;B	0.12837	0.008;0.0	T	0.25537	-1.0129	10	0.45353	T	0.12	-2.6572	7.2688	0.26244	0.0:0.6024:0.2561:0.1414	.	82;288	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	H	288;159;82	ENSP00000304586:R288H;ENSP00000406796:R159H;ENSP00000388270:R82H	ENSP00000304586:R288H	R	-	2	0	ANKS3	4695102	0.004000	0.15560	0.000000	0.03702	0.096000	0.18686	0.356000	0.20181	0.103000	0.17682	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	1	0	0	68	805	0	130	1	7.084525e-01	6	25	0	130	2		0	0	0	0	0	2	1	1	68	797	0	129	2								-14.971510	1	1	121398	5	42	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.960000	0.740000	1.000000	1.000000	0.934587	0.960000	1	8.400000e-01	1
PHKB	5257	broad.mit.edu	37	16	47622859	47622859	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47622859T>C	ENST00000323584.5	+	10	938	c.914T>C	c.(913-915)tTt>tCt	p.F305S	PHKB_ENST00000566044.1_Missense_Mutation_p.F298S|PHKB_ENST00000299167.8_Missense_Mutation_p.F305S|PHKB_ENST00000455779.1_Missense_Mutation_p.F298S|PHKB_ENST00000567402.1_3'UTR	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta			41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)			TATCCTGCATTTGCCCTGGAT	0.423000																								0							SO:0001583	missense			ENST00000323584.5	1	1	hg19	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	30	5.057005	0.93846	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.94232	-3.38;-3.38	6.07	6.07	0.98685	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.92459	3.31	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.71414	0.973;0.761	D	0.98270	1.0503	10	0.87932	D	0	-9.115	16.635	0.85050	0.0:0.0:0.0:1.0	.	305;298	Q93100;Q93100-4	KPBB_HUMAN;.	S	298;298;305	ENSP00000414345:F298S;ENSP00000313504:F305S	ENSP00000299167:F298S	F	+	2	0	PHKB	46180360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.922000	0.87538	2.330000	0.79161	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	1	23	371	0	70	1	9.929862e-01	27	102	0	70	2		0	0	0	0	0	2	1	9.999992e-01	22	362	0	70	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.740000	0.470000	1.000000	1.000000	0.766452	0.740000	0	5.800000e-01	1
ANKS3	124401	broad.mit.edu	37	16	4764060	4764060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4764060C>T	ENST00000304283.4	-	7	995	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q|ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q|ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3			19					ACCTGGGCTCCGATAGAGGCT	0.617000																								0							SO:0001583	missense			ENST00000304283.4	1	1	hg19	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909587	0.92107	0.0	1.16E-4	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.52754	1.21;2.98;0.65	4.74	4.74	0.60224	.	0.393434	0.23023	N	0.052828	T	0.66107	0.2756	M	0.69823	2.125	0.40360	D	0.979238	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.944	T	0.67902	-0.5550	10	0.48119	T	0.1	-7.6051	14.5727	0.68224	0.0:1.0:0.0:0.0	.	28;234	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	Q	234;105;28	ENSP00000304586:R234Q;ENSP00000406796:R105Q;ENSP00000388270:R28Q	ENSP00000304586:R234Q	R	-	2	0	ANKS3	4704061	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	4.192000	0.58378	2.472000	0.83506	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	1	0	1	66	261	0	60	1	9.918409e-01	3	29	0	60	2		0	0	0	0	0	2	1	1	63	253	0	60	2								-3.272300	1	1	121412	1	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHKB	5257	broad.mit.edu	37	16	47703196	47703196	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47703196A>G	ENST00000323584.5	+	26	2522	c.2498A>G	c.(2497-2499)aAc>aGc	p.N833S	PHKB_ENST00000566044.1_Missense_Mutation_p.N826S|PHKB_ENST00000299167.8_Missense_Mutation_p.N833S|PHKB_ENST00000455779.1_Missense_Mutation_p.N826S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta			41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)			GTGATTCAAAACATCATCTAT	0.403000																								0							SO:0001583	missense			ENST00000323584.5	1	1	hg19	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188263	0.38609	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88741	-2.42;-2.42	6.16	6.16	0.99307	Glycoside hydrolase 15-related (1);	0.206100	0.53938	D	0.000047	D	0.83552	0.5279	L	0.35414	1.06	0.42581	D	0.993217	B;B;B	0.27559	0.181;0.008;0.18	B;B;B	0.29862	0.083;0.016;0.108	T	0.79617	-0.1729	10	0.09843	T	0.71	-24.4208	16.8061	0.85666	1.0:0.0:0.0:0.0	.	74;833;826	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	S	826;826;833	ENSP00000414345:N826S;ENSP00000313504:N833S	ENSP00000299167:N826S	N	+	2	0	PHKB	46260697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.746000	0.62133	2.367000	0.80283	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	1	87	388	0	80	1	1	54	101	0	80	2		0	0	0	0	0	2	1	1	86	381	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHKB	5257	broad.mit.edu	37	16	47727313	47727313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47727313C>T	ENST00000323584.5	+	28	2814	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	PHKB_ENST00000566044.1_Silent_p.I923I|PHKB_ENST00000299167.8_Silent_p.I930I|PHKB_ENST00000455779.1_Silent_p.I923I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta			41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)			GGCGTCAGATCGATGGGTCTT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000323584.5	1	1	hg19	CCDS10729.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	1	35	163	0	47	1	1	43	120	0	47	2		0	0	0	0	0	2	1	1	35	163	0	45	2								-3.253550	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PHKB	5257	broad.mit.edu	37	16	47730390	47730390	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47730390C>T	ENST00000323584.5	+	29	3018	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	PHKB_ENST00000566044.1_Silent_p.I991I|PHKB_ENST00000299167.8_Silent_p.I998I|PHKB_ENST00000455779.1_Silent_p.I991I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta			41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)			ACAGACAGATCGTTGTAGAGG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000323584.5	1	1	hg19	CCDS10729.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	0	41	228	0	61	1	1	55	119	0	61	2		0	0	0	0	0	2	1	1	40	220	0	59	2								-3.154028	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ANKS3	124401	broad.mit.edu	37	16	4774778	4774778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4774778C>A	ENST00000304283.4	-	6	840	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3			19					GCACGATTATCTCATGGCCAG	0.438000																								0							SO:0001583	missense			ENST00000304283.4	1	1	hg19	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787099	0.70337	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.65549	-0.16;-0.1	5.51	-0.996	0.10218	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	L	0.48642	1.525	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.64922	-0.6293	10	0.40728	T	0.16	-3.7901	11.9999	0.53224	0.0:0.6751:0.0:0.3249	.	182	Q6ZW76	ANKS3_HUMAN	D	182;53	ENSP00000304586:E182D;ENSP00000406796:E53D	ENSP00000304586:E182D	E	-	3	2	ANKS3	4714779	1.000000	0.71417	0.763000	0.31416	0.888000	0.51559	0.937000	0.28951	-0.032000	0.13758	-0.345000	0.07892	GAG		TCGA-IB-7651-01A-11D-2154-08	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	0	0	0	11	218	0	48	0	4.057609e-01	1	26	0	48	2		0	0	0	0	0	2	1	9.982497e-01	11	213	0	48	2								-13.418660	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.630000	0.320000	1.000000	0.570000	0.677803	0.630000	0	4.500000e-01	1
ANKS3	124401	broad.mit.edu	37	16	4780014	4780014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4780014C>T	ENST00000304283.4	-	3	431	c.137G>A	c.(136-138)gGc>gAc	p.G46D	ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3			19					TTCATACTGGCCAATGGAAGC	0.577000																								0							SO:0001583	missense			ENST00000304283.4	1	1	hg19	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951772	0.92660	.	.	ENSG00000168096	ENST00000304283	T	0.62232	0.04	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86223	0.1632	10	0.72032	D	0.01	-1.4544	19.0811	0.93182	0.0:1.0:0.0:0.0	.	46	Q6ZW76	ANKS3_HUMAN	D	46	ENSP00000304586:G46D	ENSP00000304586:G46D	G	-	2	0	ANKS3	4720015	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.466000	0.80914	2.756000	0.94617	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	1	0	1	145	798	0	209	1	9.491338e-01	3	26	0	209	2		0	0	0	0	0	2	1	1	144	785	0	206	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf71	146562	broad.mit.edu	37	16	4786573	4786573	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4786573A>C	ENST00000299320.5	+	2	536	c.58A>C	c.(58-60)Atg>Ctg	p.M20L	C16orf71_ENST00000590191.1_Missense_Mutation_p.M20L|ANKS3_ENST00000585773.1_5'Flank|ANKS3_ENST00000450067.2_5'Flank|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000304283.4_5'Flank|ANKS3_ENST00000592711.1_5'Flank	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71			11					GGCCTCCCAGATGGGGCCCTG	0.592000																								0							SO:0001583	missense			ENST00000299320.5	1	1	hg19	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.209884	0.01555	.	.	ENSG00000166246	ENST00000299320	T	0.11604	2.76	1.47	0.336	0.15958	.	0.941963	0.08679	U	0.909651	T	0.07098	0.0180	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43426	-0.9392	10	0.25106	T	0.35	.	4.0857	0.09947	0.5859:0.0:0.4141:0.0	.	20	Q8IYS4	CP071_HUMAN	L	20	ENSP00000299320:M20L	ENSP00000299320:M20L	M	+	1	0	C16orf71	4726574	0.005000	0.15991	0.126000	0.21872	0.014000	0.08584	0.408000	0.21065	0.079000	0.16929	-0.441000	0.05720	ATG		TCGA-IB-7651-01A-11D-2154-08	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	1	0	1	79	316	0	73	0	4.101110e-02	1	1	0	73	2		0	0	0	0	0	2	1	1	79	311	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf71	146562	broad.mit.edu	37	16	4790160	4790160	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4790160C>T	ENST00000299320.5	+	4	761	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	C16orf71_ENST00000590191.1_Silent_p.L109L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71			11					ACAGCCAGTTCTGGTGCCTGC	0.423000																								0							SO:0001819	synonymous_variant			ENST00000299320.5	1	1	hg19	CCDS10521.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	0	0	0	27	571	0	115	0	2.035902e-02	0	5	0	115	2		0	0	0	0	0	2	1	9.999999e-01	27	561	0	115	2								-3.017764	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.570000	0.370000	1.000000	0.540000	0.633469	0.570000	0	4.600000e-01	1
ABCC12	94160	broad.mit.edu	37	16	48125031	48125031	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48125031C>T	ENST00000311303.3	-	23	3630	c.3285G>A	c.(3283-3285)tcG>tcA	p.S1095S	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12			90		all_cancers(37;0.0474)|all_lung(18;0.047)			AATTTCTTACCGAAATGTATT	0.458000																								0							SO:0001630	splice_region_variant			ENST00000311303.3	0	1	hg19	CCDS10730.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	0	0	36	954	0	172		0	0	0	0	172	2		0	0	0	0	0	2	1	1	35	927	0	169	2								-2.435600	0	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.450000	0.310000	1.000000	0.430000	0.542343	0.450000	0	3.700000e-01	1
ABCC12	94160	broad.mit.edu	37	16	48138236	48138236	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48138236C>T	ENST00000311303.3	-	20	3062	c.2717G>A	c.(2716-2718)gGc>gAc	p.G906D	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12			90		all_cancers(37;0.0474)|all_lung(18;0.047)			CATTAGCCTGCCAGTGGGAGT	0.473000																								0							SO:0001583	missense			ENST00000311303.3	1	1	hg19	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910898	0.92178	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.97772	-4.53	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.103764	0.64402	D	0.000003	D	0.99089	0.9687	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99414	1.0931	10	0.87932	D	0	.	16.4256	0.83813	0.0:1.0:0.0:0.0	.	906	Q96J65	MRP9_HUMAN	D	906;824	ENSP00000311030:G906D	ENSP00000311030:G906D	G	-	2	0	ABCC12	46695737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.840000	0.75369	2.594000	0.87642	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	0	0	16	614	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	9.999202e-01	14	602	0	135	2								-2.749816	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.330000	0.180000	1.000000	0.300000	0.439034	0.330000	0	2.400000e-01	1
ABCC12	94160	broad.mit.edu	37	16	48149406	48149406	+	Missense_Mutation	SNP	C	C	T	rs147110729		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48149406C>T	ENST00000311303.3	-	13	2254	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	ABCC12_ENST00000448542.1_Missense_Mutation_p.V637M|ABCC12_ENST00000416054.1_Silent_p.T612T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12			90		all_cancers(37;0.0474)|all_lung(18;0.047)			TGCTTCCCCACGTGGGCGTCC	0.622000																								0							SO:0001583	missense			ENST00000311303.3	0	1	hg19	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937206	0.52972	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.81078	-1.45;-1.45	5.24	4.28	0.50868	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88899	0.3351	10	0.87932	D	0	.	14.5334	0.67942	0.1479:0.852:0.0:0.0	.	637	Q96J65	MRP9_HUMAN	M	637;637;579	ENSP00000311030:V637M;ENSP00000401855:V637M	ENSP00000311030:V637M	V	-	1	0	ABCC12	46706907	1.000000	0.71417	0.973000	0.42090	0.012000	0.07955	4.659000	0.61504	1.323000	0.45263	-0.470000	0.05040	GTG		TCGA-IB-7651-01A-11D-2154-08	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	0	0	12	655	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	9.990634e-01	12	648	0	135	2								-8.811485	1	1	121412	5	42	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.230000	0.120000	1.000000	0.220000	0.365601	0.230000	0	1.700000e-01	1
ABCC11	85320	broad.mit.edu	37	16	48221197	48221197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48221197C>T	ENST00000394747.1	-	20	3197	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T	ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T|ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11			83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)		Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AACAGGACGGCGATCACCATT	0.463000																								0							SO:0001583	missense			ENST00000394747.1	1	1	hg19	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700967	0.68501	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.0	-10.0	0.00425	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.985385	0.08272	N	0.971317	D	0.85678	0.5752	M	0.68317	2.08	0.09310	N	1	B;P	0.38020	0.098;0.615	B;B	0.40199	0.008;0.322	T	0.75311	-0.3362	10	0.33940	T	0.23	0.3528	6.9598	0.24591	0.2208:0.4704:0.0:0.3088	.	950;950	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	950	ENSP00000311326:A950T;ENSP00000349017:A950T;ENSP00000378231:A950T;ENSP00000378230:A950T	ENSP00000311326:A950T	A	-	1	0	ABCC11	46778698	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-2.090000	0.00859	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	1	0	1	43	263	0	59	0	0	1	0	0	59	2		0	0	0	0	0	2	1	1	42	261	0	59	2								-3.223651	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
LONP2	83752	broad.mit.edu	37	16	48290601	48290601	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48290601A>G	ENST00000285737.4	+	3	642	c.549A>G	c.(547-549)ttA>ttG	p.L183L	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal			31					GGGAAGCTTTACCAGACATCT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000285737.4	1	1	hg19	CCDS10734.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	1	0	0	15	347	0	64	1	9.660402e-01	5	128	0	64	2		0	0	0	0	0	2	1	9.998685e-01	15	343	0	64	2								-4.220227	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.540000	0.300000	1.000000	0.490000	0.604694	0.540000	0	4.000000e-01	1
LONP2	83752	broad.mit.edu	37	16	48381426	48381426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48381426G>A	ENST00000285737.4	+	13	2040	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	LONP2_ENST00000535754.1_Silent_p.Q605Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal			31					AGGTATCTCAGCGTTTGAGTC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000285737.4	1	1	hg19	CCDS10734.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	1	0	1	73	382	0	88	1	1	75	180	0	88	2		0	0	0	0	0	2	1	1	71	371	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LONP2	83752	broad.mit.edu	37	16	48382140	48382140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48382140G>A	ENST00000285737.4	+	14	2369	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q	LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q|LONP2_ENST00000564259.1_3'UTR	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal			31					TTTAGTGGGCGGCTGGTACGT	0.423000																								0							SO:0001583	missense			ENST00000285737.4	1	1	hg19	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648787	0.96714	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.30714	1.52;1.52	6.17	6.17	0.99709	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.60845	1.875	0.80722	D	1	P;P	0.49090	0.919;0.919	P;P	0.44447	0.45;0.45	T	0.02829	-1.1105	10	0.25751	T	0.34	-23.1121	20.8794	0.99867	0.0:0.0:1.0:0.0	.	715;759	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	759;488;715	ENSP00000285737:R759Q;ENSP00000445426:R715Q	ENSP00000285737:R759Q	R	+	2	0	LONP2	46939641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.933000	0.87642	2.941000	0.99782	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	1	0	1	139	652	0	169	1	1	47	162	0	169	2		0	0	0	0	0	2	1	1	139	641	0	167	2								-20.000000	1	1	121412	10	46	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LONP2	83752	broad.mit.edu	37	16	48385520	48385520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48385520C>T	ENST00000285737.4	+	15	2459	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	LONP2_ENST00000535754.1_Missense_Mutation_p.A745V|LONP2_ENST00000564259.1_3'UTR	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal			31					AAAGTGCTGGCGGCACACAGA	0.453000																								0							SO:0001583	missense			ENST00000285737.4	1	1	hg19	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721766	0.96839	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.42131	0.98;0.98	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87938	0.2715	10	0.87932	D	0	-18.7393	20.3938	0.98981	0.0:1.0:0.0:0.0	.	745;789	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	789;518;745	ENSP00000285737:A789V;ENSP00000445426:A745V	ENSP00000285737:A789V	A	+	2	0	LONP2	46943021	1.000000	0.71417	0.990000	0.47175	0.922000	0.55478	7.786000	0.85741	2.831000	0.97527	0.585000	0.79938	GCG		TCGA-IB-7651-01A-11D-2154-08	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	0	0	1	56	224	0	52	1	1	69	148	0	52	2		0	0	0	0	0	2	1	1	56	219	0	52	2								-3.397947	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
N4BP1	9683	broad.mit.edu	37	16	48587468	48587468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48587468G>A	ENST00000262384.3	-	3	2238	c.2002C>T	c.(2002-2004)Cgt>Tgt	p.R668C	N4BP1_ENST00000565423.1_5'Flank	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1			17		all_cancers(37;0.179)|all_lung(18;0.11)			TTAGGATCACGCCTTGTTCTC	0.363000																								0							SO:0001583	missense			ENST00000262384.3	1	1	hg19	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829345	0.71258	0.0	1.21E-4	ENSG00000102921	ENST00000262384	T	0.44881	0.91	5.93	5.93	0.95920	Ribonuclease Zc3h12a-like (1);	0.048713	0.85682	D	0.000000	T	0.64305	0.2586	M	0.71581	2.175	0.58432	D	0.99999	D	0.76494	0.999	D	0.80764	0.994	T	0.64778	-0.6327	10	0.62326	D	0.03	-17.7326	15.8935	0.79318	0.0:0.0:0.8641:0.1359	.	668	O75113	N4BP1_HUMAN	C	668	ENSP00000262384:R668C	ENSP00000262384:R668C	R	-	1	0	N4BP1	47144969	0.996000	0.38824	0.925000	0.36789	0.994000	0.84299	3.647000	0.54403	2.814000	0.96858	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	1	0	1	26	92	0	43	1	1	25	99	0	43	2		0	0	0	0	0	2	1	1	25	88	0	43	2								-18.952020	1	1	120826	2	31	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBN1	29855	broad.mit.edu	37	16	4902975	4902975	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4902975G>A	ENST00000396658.4	+	1	760	c.57G>A	c.(55-57)gcG>gcA	p.A19A	UBN1_ENST00000262376.6_Silent_p.A19A|UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1			38					TGAATCCTGCGTTTTTGAAGA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000396658.4	1	1	hg19	CCDS10525.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	1	0	0	34	392	0	82	1	9.675436e-01	6	60	0	82	2		0	0	0	0	0	2	1	1	33	385	0	80	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.690000	1.000000	1.000000	0.935322	0.990000	1	8.200000e-01	1
UBN1	29855	broad.mit.edu	37	16	4927465	4927465	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4927465G>A	ENST00000396658.4	+	16	4048	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	UBN1_ENST00000262376.6_Silent_p.Q1115Q|UBN1_ENST00000545171.1_Intron|UBN1_ENST00000590769.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1			38					ATATCCCGCAGAGTCTGCCAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000396658.4	1	1	hg19	CCDS10525.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	1	0	1	250	1001	0	198	1	1	26	69	0	198	2		0	0	0	0	0	2	1	1	248	979	0	197	2								-3.527839	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPL	5493	broad.mit.edu	37	16	4934369	4934369	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934369C>T	ENST00000345988.2	-	22	4376	c.4287G>A	c.(4285-4287)gcG>gcA	p.A1429A	PPL_ENST00000590782.2_Silent_p.A1427A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin			62					CCTGCTCCAGCGCTGCCAGCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000345988.2	1	1	hg19	CCDS10526.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	1	0	1	162	630	0	140	1	9.999931e-01	36	31	0	140	2		0	0	0	0	0	2	1	1	161	618	0	136	2								-20.000000	1	1	120964	2	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPL	5493	broad.mit.edu	37	16	4934822	4934822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934822G>A	ENST00000345988.2	-	22	3923	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A	PPL_ENST00000590782.2_Silent_p.A1276A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin			62					TGTCTTTCAGGGCCTGGATTT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000345988.2	1	1	hg19	CCDS10526.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	1	0	1	238	931	0	202	1	1	54	100	0	202	2		0	0	0	0	0	2	1	1	235	918	0	201	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPL	5493	broad.mit.edu	37	16	4938987	4938987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4938987C>A	ENST00000345988.2	-	19	2478	c.2389G>T	c.(2389-2391)Gct>Tct	p.A797S	PPL_ENST00000590782.2_Missense_Mutation_p.A795S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin			62					ACCTTTACAGCTTGCTGGTAC	0.512000																								0							SO:0001583	missense			ENST00000345988.2	1	1	hg19	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837230	0.71373	.	.	ENSG00000118898	ENST00000345988	T	0.55052	0.54	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74256	-0.3724	10	0.59425	D	0.04	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	797	O60437	PEPL_HUMAN	S	797	ENSP00000340510:A797S	ENSP00000340510:A797S	A	-	1	0	PPL	4878988	1.000000	0.71417	0.765000	0.31456	0.118000	0.20060	5.210000	0.65214	2.569000	0.86673	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	1	0	1	448	1882	0	380	1	1	81	76	0	380	2		0	0	0	0	0	2	1	1	438	1842	1	378	21								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	rs144505396	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49407930G>A	ENST00000299191.3	+	1	197	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78			22					GAAGATAGGCGCATGTCTGAC	0.512000																								0							SO:0001583	missense			ENST00000299191.3	1	1	hg19	CCDS10738.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.93	1.489016	0.26686	0.001137	0.0	ENSG00000166152	ENST00000299191	T	0.60672	0.17	3.59	1.62	0.23740	.	0.000000	0.39083	N	0.001480	T	0.53658	0.1810	L	0.32530	0.975	0.18873	N	0.999984	D	0.76494	0.999	P	0.56343	0.796	T	0.43589	-0.9382	10	0.72032	D	0.01	-28.566	6.1855	0.20495	0.2354:0.0:0.7646:0.0	.	27	Q8WTQ4	CP078_HUMAN	H	27	ENSP00000299191:R27H	ENSP00000299191:R27H	R	+	2	0	C16orf78	47965431	0.252000	0.23972	0.275000	0.24674	0.014000	0.08584	0.619000	0.24388	0.511000	0.28236	-0.254000	0.11334	CGC		TCGA-IB-7651-01A-11D-2154-08	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	1	0	1	80	473	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	77	455	0	101	2								-2.966797	1	1	121412	15	43	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf78	123970	broad.mit.edu	37	16	49433071	49433071	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49433071G>A	ENST00000299191.3	+	5	797	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78			22					GAGAACATTCGGACCTTGCTC	0.448000																								0							SO:0001583	missense			ENST00000299191.3	1	1	hg19	CCDS10738.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.16	1.557611	0.27827	.	.	ENSG00000166152	ENST00000299191	T	0.52983	0.64	5.47	0.731	0.18277	.	1.434460	0.04753	N	0.424991	T	0.41719	0.1171	L	0.54323	1.7	0.09310	N	1	P	0.46952	0.887	B	0.39258	0.295	T	0.36529	-0.9744	9	.	.	.	-25.0095	6.4856	0.22087	0.6281:0.0:0.3719:0.0	.	227	Q8WTQ4	CP078_HUMAN	Q	227	ENSP00000299191:R227Q	.	R	+	2	0	C16orf78	47990572	0.006000	0.16342	0.049000	0.19019	0.561000	0.35649	0.752000	0.26362	0.202000	0.20498	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	1	0	1	61	289	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	61	286	0	89	2								-2.615518	1	1	121412	13	43	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPL	5493	broad.mit.edu	37	16	4945601	4945601	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4945601C>T	ENST00000345988.2	-	10	1178	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	PPL_ENST00000590782.2_Silent_p.E361E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin			62					TCACATCCAGCTCCCGCAGCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000345988.2	1	1	hg19	CCDS10526.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	0	0	0	15	344	0	60	1	9.330202e-01	5	103	0	60	2		0	0	0	0	0	2	1	9.998537e-01	15	335	0	60	2								-15.770090	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.540000	0.300000	1.000000	0.490000	0.608220	0.540000	0	4.000000e-01	1
ZNF423	23090	broad.mit.edu	37	16	49557603	49557603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49557603C>T	ENST00000561648.1	-	7	3810	c.3757G>A	c.(3757-3759)Ggg>Agg	p.G1253R	ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	p.G1253W(2)		89		all_cancers(37;0.0155)			TCCTCCTGCCCGTGCACGGCA	0.612000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000561648.1	1	1	hg19	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129607	0.94473	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.35605	1.3;1.3	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.37888	-0.9686	9	.	.	.	-19.3624	19.1919	0.93671	0.0:1.0:0.0:0.0	.	1253	Q2M1K9	ZN423_HUMAN	R	1253;1136	ENSP00000262383:G1253R;ENSP00000442321:G1136R	.	G	-	1	0	ZNF423	48115104	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.480000	0.81109	2.532000	0.85374	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	1	0	0	10	260	0	70	0	1.956630e-01	0	20	0	70	2		0	0	0	0	0	2	1	9.967974e-01	10	256	0	69	2								-2.347716	0	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.490000	0.240000	1.000000	0.430000	0.568601	0.490000	0	3.400000e-01	1
ZNF423	23090	broad.mit.edu	37	16	49669765	49669765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49669765C>T	ENST00000561648.1	-	4	3351	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T	ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423			89		all_cancers(37;0.0155)			TGTCCGTTGGCGCTGCGGGCC	0.697000																								0							SO:0001583	missense			ENST00000561648.1	1	1	hg19	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408956	0.11812	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.07800	3.16;3.18	5.16	1.7	0.24286	.	0.098188	0.64402	D	0.000002	T	0.02083	0.0065	N	0.01576	-0.805	0.31995	N	0.604178	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	9	.	.	.	-16.2003	2.3233	0.04216	0.3978:0.3609:0.0:0.2413	.	1100	Q2M1K9	ZN423_HUMAN	T	1100;983	ENSP00000262383:A1100T;ENSP00000442321:A983T	.	A	-	1	0	ZNF423	48227266	0.997000	0.39634	0.832000	0.32986	0.886000	0.51366	1.701000	0.37825	0.557000	0.29117	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	1	0	0	43	194	0	32	0	1.582426e-01	0	4	0	32	2		0	0	0	0	0	2	1	1	43	192	0	32	2								-20.000000	1	1	120794	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF423	23090	broad.mit.edu	37	16	49670091	49670091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49670091C>T	ENST00000561648.1	-	4	3025	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423			89		all_cancers(37;0.0155)			CTTGCAGATGCGACAGGTGCC	0.597000																								0							SO:0001583	missense			ENST00000561648.1	1	1	hg19	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523857	0.85600	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09911	2.93;2.97	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.24115	0.695	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.07501	-1.0769	9	.	.	.	-48.8797	17.8857	0.88854	0.0:1.0:0.0:0.0	.	991	Q2M1K9	ZN423_HUMAN	H	991;874	ENSP00000262383:R991H;ENSP00000442321:R874H	.	R	-	2	0	ZNF423	48227592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.234000	0.73211	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	0	0	1	40	177	0	40	0	8.200903e-01	0	16	0	40	2		0	0	0	0	0	2	1	1	40	172	0	40	2								-20.000000	1	1	121406	1	30	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR3	55027	broad.mit.edu	37	16	50102776	50102776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50102776G>T	ENST00000299192.7	+	3	588	c.397G>T	c.(397-399)Gag>Tag	p.E133*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3			28					GCTGCTAAAAGAGGTATGCAG	0.388000																								0							SO:0001587	stop_gained			ENST00000299192.7	0	1	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	36	5.720586	0.96839	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.44	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	15.4935	0.75632	0.0:0.0:0.8603:0.1397	.	.	.	.	X	47;133	.	ENSP00000285767:E47X	E	+	1	0	HEATR3	48660277	1.000000	0.71417	0.964000	0.40570	0.617000	0.37484	8.696000	0.91302	1.274000	0.44362	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	1	0	1	158	638	0	169	1	9.828812e-01	4	24	0	169	2		0	0	0	0	0	2	1	1	155	626	0	169	2								-3.499042	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR3	55027	broad.mit.edu	37	16	50104168	50104168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50104168C>T	ENST00000299192.7	+	4	670	c.479C>T	c.(478-480)gCc>gTc	p.A160V	HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3			28					GAGAACATAGCCAATGAGACT	0.408000																								0							SO:0001583	missense			ENST00000299192.7	1	1	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483595	0.84854	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.63913	-0.07;-0.07	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.55481	1.735	0.80722	D	1	P;D	0.89917	0.885;1.0	P;D	0.83275	0.465;0.996	T	0.64441	-0.6407	10	0.06757	T	0.87	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	74;160	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	V	74;160	ENSP00000285767:A74V;ENSP00000299192:A160V	ENSP00000285767:A74V	A	+	2	0	HEATR3	48661669	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.510000	0.73729	2.861000	0.98227	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	1	0	1	41	238	0	60	0	9.494151e-01	1	30	0	60	2		0	0	0	0	0	2	1	1	41	233	0	60	2								-19.755190	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
HEATR3	55027	broad.mit.edu	37	16	50106618	50106618	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50106618T>G	ENST00000299192.7	+	5	806	c.615T>G	c.(613-615)atT>atG	p.I205M	HEATR3_ENST00000285767.4_Missense_Mutation_p.I119M	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3			28					ACCTGGCTATTTCAGTAGGTA	0.358000																								0							SO:0001583	missense			ENST00000299192.7	0	1	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428511	0.43122	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.39406	1.08;1.08	5.65	3.38	0.38709	Armadillo-like helical (1);Armadillo-type fold (1);	0.142732	0.64402	D	0.000012	T	0.53174	0.1780	M	0.74258	2.255	0.39974	D	0.974838	P;P	0.46512	0.879;0.624	P;B	0.53593	0.73;0.4	T	0.53872	-0.8377	10	0.51188	T	0.08	.	8.7871	0.34827	0.0:0.1608:0.0:0.8392	.	119;205	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	M	119;205	ENSP00000285767:I119M;ENSP00000299192:I205M	ENSP00000285767:I119M	I	+	3	3	HEATR3	48664119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.779000	0.26746	0.508000	0.28173	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	0	0	0	11	292	0	68	1	4.470453e-01	2	37	0	68	2		0	0	0	0	0	2	1	9.982269e-01	11	286	0	67	2								-12.165810	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.480000	0.240000	1.000000	0.430000	0.558629	0.480000	0	3.400000e-01	1
HEATR3	55027	broad.mit.edu	37	16	50138873	50138873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50138873C>A	ENST00000299192.7	+	15	2135	c.1944C>A	c.(1942-1944)aaC>aaA	p.N648K	HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3			28					GGAGAGGTAACTATAGCACAG	0.294000																								0							SO:0001583	missense			ENST00000299192.7	1	1	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698907	0.03279	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.38560	1.13;1.19	5.88	-2.38	0.06622	.	0.142339	0.64402	N	0.000009	T	0.06462	0.0166	N	0.00237	-1.79	0.23107	N	0.998284	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.02654	T	1	.	2.3785	0.04348	0.5172:0.2099:0.1745:0.0985	.	562;648	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	K	562;648	ENSP00000285767:N562K;ENSP00000299192:N648K	ENSP00000285767:N562K	N	+	3	2	HEATR3	48696374	0.997000	0.39634	0.041000	0.18516	0.791000	0.44710	0.605000	0.24179	-0.777000	0.04572	-1.103000	0.02113	AAC		TCGA-IB-7651-01A-11D-2154-08	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	1	0	1	30	359	0	79	1	8.889261e-01	13	35	0	79	2		0	0	0	0	0	2	1	1	30	353	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.970000	0.650000	1.000000	1.000000	0.918030	0.970000	1	7.900000e-01	1
ADCY7	113	broad.mit.edu	37	16	50338418	50338418	+	Missense_Mutation	SNP	G	G	A	rs79253515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50338418G>A	ENST00000394697.2	+	11	1856	c.1516G>A	c.(1516-1518)Gtg>Atg	p.V506M	ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7			35		all_cancers(37;0.0127)			CCGTGAGAGCGTGAGCAGTGG	0.677000																								0							SO:0001583	missense			ENST00000394697.2	1	1	hg19	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	1.705	-0.500671	0.04261	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.78126	-1.15;-1.15;-1.15	4.84	3.85	0.44370	.	0.219761	0.21876	U	0.067804	T	0.67487	0.2898	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.33299	0.231;0.407	B;B	0.29598	0.104;0.063	T	0.69884	-0.5024	10	0.44086	T	0.13	.	14.2036	0.65721	0.0:0.1916:0.8084:0.0	.	506;506	P51828;F5H4D1	ADCY7_HUMAN;.	M	506	ENSP00000445046:V506M;ENSP00000378187:V506M;ENSP00000254235:V506M	ENSP00000254235:V506M	V	+	1	0	ADCY7	48895919	0.938000	0.31826	0.732000	0.30844	0.037000	0.13140	1.432000	0.34936	2.215000	0.71742	0.491000	0.48974	GTG		TCGA-IB-7651-01A-11D-2154-08	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3	1	0	1	84	412	0	72	1	9.958942e-01	4	39	0	72	2		0	0	0	0	0	2	1	1	84	401	0	71	2								-4.663293	1	1	121370	13	41	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY7	113	broad.mit.edu	37	16	50348221	50348221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50348221G>A	ENST00000394697.2	+	24	3215	c.2875G>A	c.(2875-2877)Gcc>Acc	p.A959T	ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T			P51828	ADCY7_HUMAN	adenylate cyclase 7			35		all_cancers(37;0.0127)			GCGGCAGCATGCCCACATTGG	0.617000																								0							SO:0001583	missense			ENST00000394697.2	1	1	hg19	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368059	0.24771	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.29397	1.57;1.57	4.95	1.89	0.25635	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.156878	0.29059	U	0.013273	T	0.19327	0.0464	N	0.25380	0.74	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.06826	-1.0805	10	0.20519	T	0.43	.	10.9179	0.47148	0.1706:0.0:0.8294:0.0	.	959	P51828	ADCY7_HUMAN	T	959	ENSP00000378187:A959T;ENSP00000254235:A959T	ENSP00000254235:A959T	A	+	1	0	ADCY7	48905722	0.997000	0.39634	0.324000	0.25361	0.928000	0.56348	3.267000	0.51577	0.278000	0.22164	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3	1	0	1	33	243	0	50	1	9.911390e-01	14	43	0	50	2		0	0	0	0	0	2	1	1	33	241	0	50	2								-20.000000	1	1	121412	2	29	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999001	0.990000	1	9.900000e-01	1
BRD7	29117	broad.mit.edu	37	16	50402680	50402680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50402680G>A	ENST00000394688.3	-	1	165	c.6C>T	c.(4-6)ggC>ggT	p.G2G	RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Silent_p.G2G			Q9NPI1	BRD7_HUMAN	bromodomain containing 7			22		all_cancers(37;0.0127)			TGTGCTTCTTGCCCATGTCCG	0.771000																								0							SO:0001819	synonymous_variant			ENST00000394688.3	1	1	hg19	CCDS10742.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	1	0	0	52	204	0	29	1	9.760242e-01	9	16	0	29	2		0	0	0	0	0	2	1	1	52	200	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC14L5	9717	broad.mit.edu	37	16	5041991	5041991	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5041991T>C	ENST00000251170.7	+	6	807	c.627T>C	c.(625-627)cgT>cgC	p.R209R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)			29					ACGGGCCCCGTAGCACCCTGG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000251170.7	0	1	hg19	CCDS45403.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1	1	0	1	15	44	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.999435e-01	15	44	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
SEC14L5	9717	broad.mit.edu	37	16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)			29					ACTCAACATGCGGCACCTGTG	0.637000																								0							SO:0001583	missense			ENST00000251170.7	1	1	hg19	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619072	0.66787	0.0	1.21E-4	ENSG00000103184	ENST00000251170	T	0.75704	-0.96	4.5	1.17	0.20885	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.075345	0.48767	D	0.000176	D	0.86058	0.5842	M	0.84683	2.71	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.88142	0.2845	10	0.87932	D	0	-24.0061	14.4519	0.67392	0.6133:0.3867:0.0:0.0	.	391	O43304	S14L5_HUMAN	W	391	ENSP00000251170:R391W	ENSP00000251170:R391W	R	+	1	2	SEC14L5	4993444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.010000	0.29898	0.489000	0.27749	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1	1	0	1	83	330	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	82	323	0	68	2								-3.412159	1	1	120904	3	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKD1	85407	broad.mit.edu	37	16	50583467	50583467	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50583467G>A	ENST00000268459.3	+	3	416		c.e3+1		NKD1_ENST00000564336.1_Splice_Site|RP11-401P9.1_ENST00000569940.2_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)			23		all_cancers(37;0.229)			AAGCACCCGGGTATGATTCCC	0.652000																								0							SO:0001630	splice_region_variant			ENST00000268459.3	0	1	hg19	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924349	0.52653	.	.	ENSG00000140807	ENST00000268459	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3982	0.60868	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NKD1	49140968	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.869000	0.63028	2.263000	0.75096	0.313000	0.20887	.		TCGA-IB-7651-01A-11D-2154-08	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1	1	0	1	15	80	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	9.999032e-01	15	78	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999220	0.990000	1	9.900000e-01	1
NKD1	85407	broad.mit.edu	37	16	50667286	50667286	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50667286G>A	ENST00000268459.3	+	10	1231	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)			23		all_cancers(37;0.229)			CAACGGCTCCGGGGCACCCAG	0.642000																								0							SO:0001583	missense			ENST00000268459.3	1	1	hg19	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308309	0.81247	.	.	ENSG00000140807	ENST00000268459	T	0.69435	-0.4	4.44	4.44	0.53790	.	0.069272	0.64402	D	0.000017	T	0.79851	0.4517	M	0.74881	2.28	0.46586	D	0.999114	D	0.76494	0.999	D	0.65323	0.934	T	0.82922	-0.0217	10	0.72032	D	0.01	-23.2055	15.4353	0.75140	0.0:0.0:1.0:0.0	.	336	Q969G9	NKD1_HUMAN	Q	336	ENSP00000268459:R336Q	ENSP00000268459:R336Q	R	+	2	0	NKD1	49224787	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.636000	0.74299	2.297000	0.77311	0.585000	0.79938	CGG		TCGA-IB-7651-01A-11D-2154-08	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1	1	0	1	106	535	1	112	0	8.449111e-01	0	27	1	112	3		0	0	0	0	0	2	1	1	106	524	1	112	19								-2.511951	1	1	121412	3	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOD2	64127	broad.mit.edu	37	16	50733613	50733613	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50733613T>C	ENST00000300589.2	+	2	393	c.288T>C	c.(286-288)ggT>ggC	p.G96G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2			52		all_cancers(37;0.0156)			GGAATAAGGGTACTTGGGCCT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000300589.2	1	1	hg19	CCDS10746.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	0	0	0	16	387	1	54	0	1.693523e-02	0	5	1	54	2		0	0	0	0	0	2	1	9.999206e-01	16	376	0	54	2								-16.500420	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.510000	0.290000	1.000000	0.470000	0.585832	0.510000	0	3.800000e-01	1
NOD2	64127	broad.mit.edu	37	16	50745198	50745198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745198G>A	ENST00000300589.2	+	4	1481	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2			52		all_cancers(37;0.0156)			CTGAGGAAGCGCCATCATGAG	0.622000																								0							SO:0001583	missense			ENST00000300589.2	1	1	hg19	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470983	0.01044	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.78003	-1.14	5.12	2.32	0.28847	.	0.954894	0.08725	N	0.902954	T	0.51958	0.1705	N	0.03948	-0.315	0.25087	N	0.990887	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.002;0.0;0.003	T	0.36744	-0.9735	10	0.12103	T	0.63	.	6.681	0.23119	0.5308:0.0:0.4692:0.0	.	243;432;459	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	H	432;459	ENSP00000300589:R459H	ENSP00000300589:R459H	R	+	2	0	NOD2	49302699	0.712000	0.27916	0.723000	0.30687	0.042000	0.13812	3.150000	0.50662	0.267000	0.21916	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	0	0	0	68	596	0	141	0	1.590174e-01	0	7	0	141	2		0	0	0	0	0	2	1	1	68	583	0	137	2								-19.901420	1	1	121412	1	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.970000	1.000000	1.000000	0.998359	0.990000	1	9.900000e-01	1
NOD2	64127	broad.mit.edu	37	16	50745492	50745492	+	Missense_Mutation	SNP	G	G	A	rs104895436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745492G>A	ENST00000300589.2	+	4	1775	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2			52		all_cancers(37;0.0156)			GCTCTGTGGGGCCTGGGCATG	0.637000																								0							SO:0001583	missense			ENST00000300589.2	1	1	hg19	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593940	0.66219	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.74526	-0.85	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000008	D	0.88804	0.6536	M	0.93106	3.38	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91025	0.4860	10	0.66056	D	0.02	.	14.1217	0.65192	0.0:0.0:1.0:0.0	.	341;530;557	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	D	530;557	ENSP00000300589:G557D	ENSP00000300589:G557D	G	+	2	0	NOD2	49302993	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.344000	0.65981	2.399000	0.81585	0.556000	0.70494	GGC		TCGA-IB-7651-01A-11D-2154-08	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	1	0	1	49	189	0	37	0	3.648934e-01	0	6	0	37	2		0	0	0	0	0	2	1	1	50	187	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOD2	64127	broad.mit.edu	37	16	50746021	50746021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50746021G>A	ENST00000300589.2	+	4	2304	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2			52		all_cancers(37;0.0156)			CCAAGAGCGTGCATGCCATGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000300589.2	1	1	hg19	CCDS10746.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	1	0	1	66	306	0	67	0	8.553191e-02	0	3	0	67	2		0	0	0	0	0	2	1	1	64	301	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYLD	1540	broad.mit.edu	37	16	50815323	50815323	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50815323G>T	ENST00000427738.3	+	9	1889		c.e9+1		CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|CYLD_ENST00000568704.2_Intron|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000540145.1_Splice_Site|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)			62		all_cancers(37;0.0156)			AACTCTTTAGGTATTTGGATG	0.383000			Mis, N, F, S		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0							SO:0001630	splice_region_variant	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	ENST00000427738.3	1	1	hg19	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750995	0.89753	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLD	49372824	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.414000	0.97362	2.836000	0.97738	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2	1	0	1	45	229	0	50	0	2.827918e-02	0	2	0	50	2		0	0	0	0	0	2	1	1	45	224	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAGPA	51172	broad.mit.edu	37	16	5083700	5083700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5083700G>A	ENST00000312251.3	-	2	135	c.116C>T	c.(115-117)cCc>cTc	p.P39L	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L|ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000564922.1_5'UTR	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase			12				N-Acetyl-D-glucosamine(DB00141)	GCGTGGATAGGGCAGTAGCAA	0.761000																								0							SO:0001583	missense			ENST00000312251.3	0	1	hg19	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671262	0.88348	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.38240	1.15;1.43	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.96	T	0.63395	-0.6647	10	0.87932	D	0	-24.0811	16.9798	0.86324	0.0:0.0:1.0:0.0	.	39;39	B4DZG9;Q9UK23	.;NAGPA_HUMAN	L	39	ENSP00000310998:P39L;ENSP00000371381:P39L	ENSP00000310998:P39L	P	-	2	0	NAGPA	5023701	1.000000	0.71417	0.967000	0.41034	0.135000	0.20990	7.063000	0.76714	2.414000	0.81942	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	1	0	0	14	93	0	9	0	5.391881e-02	1	2	0	9	2		0	0	0	0	0	2	1	9.997841e-01	14	90	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.930000	1.000000	1.000000	0.995670	0.990000	1	9.900000e-01	1
SALL1	6299	broad.mit.edu	37	16	51174870	51174870	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51174870G>T	ENST00000251020.4	-	2	1296	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Silent_p.A324A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1			126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)		GCTGGGCCAAGGCAGACAAGG	0.493000													GBM(103;1352 1446 1855 4775 8890)											0		GRCh37	CD054417	SALL1	D		SO:0001819	synonymous_variant			ENST00000251020.4	1	1	hg19	CCDS10747.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	1	0	1	101	497	0	115	0	1.371720e-01	0	4	0	115	2		0	0	0	0	0	2	1	1	100	482	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOX3	27324	broad.mit.edu	37	16	52473589	52473589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:52473589C>T	ENST00000219746.9	-	7	1563	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3			24					GTGGAGGGTGCTGAGCCAACC	0.532000																								0							SO:0001583	missense			ENST00000219746.9	0	1	hg19	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	2.332	-0.353204	0.05173	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10099	2.94;2.91	5.85	2.76	0.32466	.	0.618951	0.16793	N	0.199299	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42103	-0.9471	10	0.12766	T	0.61	.	2.7183	0.05194	0.1109:0.4213:0.2926:0.1752	.	422;427	B4DRD0;O15405	.;TOX3_HUMAN	T	427;422	ENSP00000219746:A427T;ENSP00000385705:A422T	ENSP00000219746:A427T	A	-	1	0	TOX3	51031090	0.332000	0.24722	0.009000	0.14445	0.739000	0.42172	1.266000	0.33039	0.813000	0.34350	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	0	0	1	69	291	0	73	1	9.959416e-01	15	23	0	73	2		0	0	0	0	0	2	1	1	67	285	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD9	80205	broad.mit.edu	37	16	53190488	53190488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53190488G>A	ENST00000398510.3	+	1	574	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	CHD9_ENST00000447540.1_Missense_Mutation_p.A163T|CHD9_ENST00000566029.1_Missense_Mutation_p.A163T|CHD9_ENST00000564845.1_Missense_Mutation_p.A163T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9			78		all_cancers(37;0.0212)			CCATGACTTTGCCTTATTTCA	0.398000																								0							SO:0001583	missense			ENST00000398510.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.23	1.294011	0.23564	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86230	-2.01;-2.09	5.86	3.92	0.45320	.	0.194774	0.35805	N	0.002969	T	0.79347	0.4430	L	0.31294	0.92	0.32306	N	0.564381	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.004;0.002;0.006;0.004	T	0.76971	-0.2761	10	0.49607	T	0.09	-0.801	10.0684	0.42317	0.2052:0.0:0.7948:0.0	.	163;163;163;163	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	T	163	ENSP00000396345:A163T;ENSP00000381522:A163T	ENSP00000381522:A163T	A	+	1	0	CHD9	51747989	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.221000	0.51215	0.829000	0.34733	-0.145000	0.13849	GCC		TCGA-IB-7651-01A-11D-2154-08	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	1	0	0	22	448	0	77	0	6.603635e-01	1	46	0	77	2		0	0	0	0	0	2	1	9.999986e-01	22	442	0	75	2								-19.996000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.590000	0.370000	1.000000	0.560000	0.652767	0.590000	0	4.700000e-01	1
CHD9	80205	broad.mit.edu	37	16	53191042	53191042	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53191042T>C	ENST00000398510.3	+	1	1128	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G	CHD9_ENST00000447540.1_Silent_p.G347G|CHD9_ENST00000566029.1_Silent_p.G347G|CHD9_ENST00000564845.1_Silent_p.G347G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9			78		all_cancers(37;0.0212)			ATCCTCAGGGTAATTATAGCA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000398510.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	1	0	1	18	81	0	26	0	9.382434e-01	0	24	0	26	2		0	0	0	0	0	2	1	9.999875e-01	18	78	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999912	0.990000	1	9.900000e-01	1
RAB11FIP3	9727	broad.mit.edu	37	16	532617	532617	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:532617G>A	ENST00000262305.4	+	4	1384	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RAB11FIP3_ENST00000457159.1_Silent_p.V332V|RAB11FIP3_ENST00000450428.1_Silent_p.V36V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)			12		Hepatocellular(16;0.0218)			GCACCCTGGTGCACCCTGAGC	0.657000													Melanoma(160;2366 2595 4474 8099)											0							SO:0001819	synonymous_variant			ENST00000262305.4	1	1	hg19	CCDS32351.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	1	0	1	65	242	0	49	1	9.999999e-01	20	72	0	49	2		0	0	0	0	0	2	1	1	65	242	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD9	80205	broad.mit.edu	37	16	53288395	53288395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53288395G>A	ENST00000398510.3	+	17	3994	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I|CHD9_ENST00000566029.1_Missense_Mutation_p.V1303I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9			78		all_cancers(37;0.0212)			AGCAGTTAAAGTCTACAGACT	0.388000																								0							SO:0001583	missense			ENST00000398510.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.21	3.573962	0.65765	2.69E-4	0.0	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.76968	-1.06;-1.06	5.48	5.48	0.80851	Helicase, C-terminal (1);	0.000000	0.51477	D	0.000092	D	0.82788	0.5113	L	0.41124	1.26	0.80722	D	1	B;P;D;D	0.61697	0.068;0.678;0.984;0.99	B;B;D;D	0.73380	0.05;0.421;0.956;0.98	T	0.76961	-0.2765	10	0.13470	T	0.59	-8.3751	19.3515	0.94389	0.0:0.0:1.0:0.0	.	829;1303;1303;1303	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1303;1303;829	ENSP00000396345:V1303I;ENSP00000381522:V1303I	ENSP00000219084:V829I	V	+	1	0	CHD9	51845896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.728000	0.74769	2.580000	0.87095	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	1	0	1	128	632	0	162	1	9.960033e-01	4	39	0	162	2		0	0	0	0	0	2	1	1	126	625	0	162	2								-20.000000	1	1	120820	1	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD9	80205	broad.mit.edu	37	16	53326775	53326775	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53326775A>G	ENST00000398510.3	+	28	5408	c.5321A>G	c.(5320-5322)tAt>tGt	p.Y1774C	CHD9_ENST00000447540.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000566029.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000564845.1_Missense_Mutation_p.Y1774C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9			78		all_cancers(37;0.0212)			GATAAAGTATATTGGCCTACT	0.368000																								0							SO:0001583	missense			ENST00000398510.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	15.87	2.960762	0.53400	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.91945	-2.94;-2.94	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000098	D	0.95567	0.8559	M	0.76328	2.33	0.80722	D	1	D;B;D;D	0.89917	0.999;0.103;0.999;1.0	D;B;D;D	0.85130	0.995;0.093;0.994;0.997	D	0.95318	0.8418	10	0.45353	T	0.12	-14.8435	15.3271	0.74172	1.0:0.0:0.0:0.0	.	142;1774;1774;1774	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	C	1774;1774;142	ENSP00000396345:Y1774C;ENSP00000381522:Y1774C	ENSP00000381522:Y1774C	Y	+	2	0	CHD9	51884276	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.869000	0.92326	2.023000	0.59567	0.482000	0.46254	TAT		TCGA-IB-7651-01A-11D-2154-08	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	0	0	0	12	356	0	94	0	4.618863e-01	0	45	0	94	2		0	0	0	0	0	2	1	9.990617e-01	12	350	0	91	2								-12.488130	1	1	120818	1	28	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.430000	0.220000	1.000000	0.390000	0.518409	0.430000	0	3.100000e-01	1
CHD9	80205	broad.mit.edu	37	16	53338106	53338106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53338106C>A	ENST00000398510.3	+	30	6275	c.6188C>A	c.(6187-6189)tCt>tAt	p.S2063Y	CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000566029.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9			78		all_cancers(37;0.0212)			GAAGAAGAATCTATGTCTTCT	0.408000																								0							SO:0001583	missense			ENST00000398510.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.52	3.843191	0.71488	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.71934	-0.61;-0.61	6.16	6.16	0.99307	.	0.099037	0.45126	D	0.000383	D	0.83308	0.5226	L	0.57536	1.79	0.53005	D	0.999963	D;D;D;D	0.71674	0.995;0.998;0.995;0.997	D;D;D;D	0.80764	0.986;0.935;0.986;0.994	T	0.82645	-0.0355	10	0.72032	D	0.01	-16.9328	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2063;2063;2063;2063	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2063	ENSP00000396345:S2063Y;ENSP00000381522:S2063Y	ENSP00000381522:S2063Y	S	+	2	0	CHD9	51895607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.256000	0.65468	2.937000	0.99478	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	1	0	1	11	64	0	24	1	9.900208e-01	6	44	0	24	2		0	0	0	0	0	2	1	9.986623e-01	11	63	0	24	2								-19.700260	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.960000	1.000000	1.000000	0.996248	0.990000	1	9.900000e-01	1
RBL2	5934	broad.mit.edu	37	16	53514557	53514557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53514557C>A	ENST00000262133.6	+	20	3097	c.2960C>A	c.(2959-2961)cCt>cAt	p.P987H	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2			45					CCTCCCACACCTACTCGCCTC	0.512000																								0							SO:0001583	missense			ENST00000262133.6	1	1	hg19	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871245	0.91587	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91011	-2.77	5.67	5.67	0.87782	Retinoblastoma-associated protein, B-box (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.93;1.0	D	0.95414	0.8501	10	0.87932	D	0	-18.8095	19.7806	0.96414	0.0:1.0:0.0:0.0	.	697;987	E9PG04;Q08999	.;RBL2_HUMAN	H	987;697	ENSP00000262133:P987H	ENSP00000262133:P987H	P	+	2	0	RBL2	52072058	1.000000	0.71417	0.965000	0.40720	0.865000	0.49528	7.502000	0.81614	2.669000	0.90835	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	1	0	1	73	386	0	105	1	1	47	187	0	105	2		0	0	0	0	0	2	1	1	70	377	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBL2	5934	broad.mit.edu	37	16	53515625	53515625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53515625G>A	ENST00000262133.6	+	21	3264	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Splice_Site	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2			45					TGTAAGAACAGGCTCCCCTCG	0.333000																								0							SO:0001583	missense			ENST00000262133.6	0	1	hg19	CCDS10748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367181|3.367181	0.61513|0.61513	.|.	.|.	ENSG00000103479|ENSG00000103479	ENST00000544545|ENST00000262133;ENST00000379935	.|T	.|0.53206	.|0.63	5.37|5.37	3.42|3.42	0.39159|0.39159	.|.	.|0.148324	.|0.64402	.|N	.|0.000011	.|T	.|0.30386	.|0.0763	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27498	.|0.017;0.18	.|B;B	.|0.23150	.|0.015;0.044	.|T	.|0.05194	.|-1.0900	.|10	.|0.22109	.|T	.|0.4	.|-5.3975	11.2464|11.2464	0.49000|0.49000	0.1955:0.0:0.8045:0.0|0.1955:0.0:0.8045:0.0	.|.	.|753;1043	.|E9PG04;Q08999	.|.;RBL2_HUMAN	.|S	-1|1043;753	.|ENSP00000262133:G1043S	.|ENSP00000262133:G1043S	.|G	+|+	.|1	.|0	RBL2|RBL2	52073126|52073126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.956000|4.956000	0.63645|0.63645	0.758000|0.758000	0.33059|0.33059	0.650000|0.650000	0.86243|0.86243	.|GGC		TCGA-IB-7651-01A-11D-2154-08	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	1	0	1	35	148	0	38	1	1	32	161	0	38	2		0	0	0	0	0	2	1	1	34	140	0	37	2								-19.945920	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKTIP	64400	broad.mit.edu	37	16	53529183	53529183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53529183A>G	ENST00000394657.7	-	4	478	c.304T>C	c.(304-306)Tct>Cct	p.S102P	AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P|AKTIP_ENST00000300245.4_Missense_Mutation_p.S102P	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein			5		all_cancers(37;0.14)			CTTAATGCAGAGCGATAAGAT	0.383000																								0							SO:0001583	missense			ENST00000394657.7	1	1	hg19	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896442	0.91962	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.73152	-0.72;-0.72	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.051077	0.85682	D	0.000000	D	0.83862	0.5346	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.976	D;P;D	0.91635	0.999;0.885;0.936	D	0.85926	0.1449	10	0.87932	D	0	-4.2089	16.0135	0.80420	1.0:0.0:0.0:0.0	.	102;102;102	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	P	102	ENSP00000378152:S102P;ENSP00000300245:S102P	ENSP00000300245:S102P	S	-	1	0	AKTIP	52086684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.126000	0.94411	2.242000	0.73789	0.533000	0.62120	TCT		TCGA-IB-7651-01A-11D-2154-08	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	0	0	1	30	283	0	61	1	9.993298e-01	10	98	0	61	2		0	0	0	0	0	2	1	1	29	277	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.810000	1.000000	1.000000	0.983524	0.990000	1	9.800000e-01	1
AKTIP	64400	broad.mit.edu	37	16	53532472	53532472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53532472C>T	ENST00000394657.7	-	3	253	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M|AKTIP_ENST00000300245.4_Missense_Mutation_p.V27M	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein			5		all_cancers(37;0.14)			CTGGTTTTCACGTCCCCTGTT	0.423000																								0							SO:0001583	missense			ENST00000394657.7	1	1	hg19	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222642	0.39300	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	D;D	0.82803	-1.65;-1.65	5.05	2.98	0.34508	.	0.407215	0.27345	N	0.019790	T	0.64305	0.2586	N	0.08118	0	0.27982	N	0.935988	B;B;B	0.18610	0.017;0.029;0.017	B;B;B	0.15870	0.006;0.014;0.006	T	0.58126	-0.7691	10	0.45353	T	0.12	0.9395	8.2208	0.31541	0.0:0.5872:0.3207:0.0922	.	27;27;27	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	M	27	ENSP00000378152:V27M;ENSP00000300245:V27M	ENSP00000300245:V27M	V	-	1	0	AKTIP	52089973	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.535000	0.45685	1.506000	0.48736	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	1	0	1	82	372	0	87	1	9.999896e-01	20	57	0	87	2		0	0	0	0	0	2	1	1	82	367	0	107	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPGRIP1L	23322	broad.mit.edu	37	16	53686654	53686654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53686654G>A	ENST00000379925.3	-	15	1995	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000262135.4_Nonsense_Mutation_p.R649*	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	p.R649*(1)		46		all_cancers(37;0.0973)			TGAAGGCCTCGCACTACGGGA	0.373000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000379925.3	0	1	hg19	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623483	0.96660	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.45	3.08	0.35506	.	1.118250	0.06586	N	0.751119	.	.	.	.	.	.	0.34598	D	0.716193	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9957	10.9132	0.47120	0.0793:0.0:0.7882:0.1325	.	.	.	.	X	649	.	ENSP00000262135:R649X	R	-	1	2	RPGRIP1L	52244155	0.017000	0.18338	0.838000	0.33150	0.818000	0.46254	1.447000	0.35101	1.244000	0.43870	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	1	0	1	74	281	0	86	1	7.025122e-01	2	9	0	86	2		0	0	0	0	0	2	1	1	73	277	0	85	2								-3.707171	1	1	121410	2	32	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FTO	79068	broad.mit.edu	37	16	54145726	54145726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54145726C>T	ENST00000471389.1	+	9	1639	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FTO_ENST00000431610.2_Missense_Mutation_p.R74W|FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000472835.1_3'UTR|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated			29					GCCAGAATGTCGGCCATACTG	0.488000																								0							SO:0001583	missense			ENST00000471389.1	1	1	hg19	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241272	0.39598	.	.	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894;ENST00000463855;ENST00000268349	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.66	2.11	0.27256	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.624461	0.15337	N	0.267712	T	0.26376	0.0644	N	0.21448	0.665	0.39046	D	0.960224	B	0.17268	0.021	B	0.10450	0.005	T	0.09378	-1.0677	10	0.49607	T	0.09	-7.0723	6.9537	0.24560	0.1305:0.6562:0.0:0.2133	.	473	Q9C0B1	FTO_HUMAN	W	473;177;74;74;74;95;28	ENSP00000418823:R473W;ENSP00000378142:R177W;ENSP00000415636:R74W;ENSP00000417422:R74W;ENSP00000417843:R95W	ENSP00000268349:R28W	R	+	1	2	FTO	52703227	0.975000	0.34042	0.516000	0.27786	0.934000	0.57294	1.033000	0.30191	0.714000	0.32081	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	0	0	0	47	1230	0	231	1	9.663057e-01	3	140	0	231	2		0	0	0	0	0	2	1	1	46	1199	0	230	2								-3.041051	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.450000	0.330000	1.000000	0.440000	0.544990	0.450000	0	3.800000e-01	1
IRX3	79191	broad.mit.edu	37	16	54317630	54317630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54317630C>T	ENST00000329734.3	-	4	2186	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3			14					AAGACCAGGGCGGCGTCCAGA	0.423000													GBM(143;1830 1866 4487 4646 37383)											0							SO:0001583	missense			ENST00000329734.3	0	1	hg19	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107366	0.77096	.	.	ENSG00000177508	ENST00000329734	T	0.61742	0.08	5.14	5.14	0.70334	.	0.186035	0.32473	N	0.006042	T	0.66436	0.2789	L	0.39898	1.24	0.50171	D	0.999859	D	0.76494	0.999	D	0.75020	0.985	T	0.58148	-0.7687	10	0.10111	T	0.7	0.3728	18.9484	0.92630	0.0:1.0:0.0:0.0	.	492	P78415	IRX3_HUMAN	T	492	ENSP00000331608:A492T	ENSP00000331608:A492T	A	-	1	0	IRX3	52875131	1.000000	0.71417	0.693000	0.30195	0.879000	0.50718	6.855000	0.75445	2.554000	0.86153	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2	0	0	0	6	144	0	32	0	6.617426e-02	0	9	0	32	2		0	0	0	0	0	2	1	9.613492e-01	6	138	0	31	2								-3.991706	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.560000	0.220000	1.000000	1.000000	0.615566	0.560000	0	3.500000e-01	1
IRX5	10265	broad.mit.edu	37	16	54967479	54967479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54967479G>A	ENST00000394636.4	+	3	1483	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	IRX5_ENST00000558597.1_Silent_p.P316P|IRX5_ENST00000320990.5_Silent_p.P381P|IRX5_ENST00000560154.1_Silent_p.P162P|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5			14					CCCCGGCGCCGTCACGCTCGC	0.716000																								0							SO:0001819	synonymous_variant			ENST00000394636.4	1	1	hg19	CCDS10751.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2	1	0	0	27	110	0	15	0	4.172662e-02	0	2	0	15	2		0	0	0	0	0	2	1	1	27	109	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
IRX6	79190	broad.mit.edu	37	16	55361564	55361564	+	Silent	SNP	A	A	G	rs148248438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361564A>G	ENST00000290552.7	+	4	1812	c.480A>G	c.(478-480)acA>acG	p.T160T	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6			33					CCACCAGTACACTCAAGGCCT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000290552.7	1	1	hg19	CCDS32449.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	1	0	1	51	203	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	50	197	0	40	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP2	4313	broad.mit.edu	37	16	55517011	55517011	+	Missense_Mutation	SNP	G	G	A	rs112710941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55517011G>A	ENST00000219070.4	+	2	853	c.344G>A	c.(343-345)cGc>cAc	p.R115H	MMP2_ENST00000543485.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H|MMP2_ENST00000570308.1_Missense_Mutation_p.R39H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)			58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		Captopril(DB01197)|Marimastat(DB00786)	TTCTTCCCTCGCAAGCCCAAG	0.602000																								0							SO:0001583	missense			ENST00000219070.4	1	1	hg19	CCDS10752.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.82	1.458337	0.26248	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80123	-1.34;-1.34;-1.34	4.79	3.83	0.44106	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.301229	0.38663	N	0.001605	T	0.72366	0.3451	L	0.37630	1.12	0.58432	D	0.999994	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.0	T	0.68804	-0.5312	10	0.51188	T	0.08	.	13.476	0.61308	0.077:0.0:0.923:0.0	.	65;115	E9PE45;P08253	.;MMP2_HUMAN	H	115;39;65	ENSP00000219070:R115H;ENSP00000444143:R39H;ENSP00000394237:R65H	ENSP00000219070:R115H	R	+	2	0	MMP2	54074512	1.000000	0.71417	0.993000	0.49108	0.051000	0.14879	6.718000	0.74713	1.145000	0.42336	-0.252000	0.11476	CGC		TCGA-IB-7651-01A-11D-2154-08	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3	1	0	1	82	308	0	89	1	1	2	1897	0	89	2		0	0	0	0	0	2	1	1	82	304	0	88	2								-3.855929	1	1	121412	3	42	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP2	4313	broad.mit.edu	37	16	55523659	55523659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55523659G>A	ENST00000219070.4	+	7	1612	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	MMP2_ENST00000543485.1_Missense_Mutation_p.R292H|MMP2_ENST00000437642.2_Missense_Mutation_p.R318H|MMP2_ENST00000570308.1_Missense_Mutation_p.R292H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)			58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		Captopril(DB01197)|Marimastat(DB00786)	AGCGCCGGCCGCAGTGACGGA	0.582000																								0							SO:0001583	missense			ENST00000219070.4	1	1	hg19	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879572	0.91740	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.53640	0.61;0.61;0.61	4.91	4.91	0.64330	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.81826	-0.0754	10	0.87932	D	0	.	18.459	0.90731	0.0:0.0:1.0:0.0	.	318;368	E9PE45;P08253	.;MMP2_HUMAN	H	368;292;318	ENSP00000219070:R368H;ENSP00000444143:R292H;ENSP00000394237:R318H	ENSP00000219070:R368H	R	+	2	0	MMP2	54081160	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.813000	0.99286	2.423000	0.82170	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3	1	0	1	119	452	0	101	0	1	0	1673	0	101	2		0	0	0	0	0	2	1	1	119	448	0	100	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPNS2	84290	broad.mit.edu	37	16	55601237	55601237	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55601237A>G	ENST00000457326.2	+	1	654	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2			7					GAACAACTTTACCAAATGATT	0.488000																								0							SO:0001583	missense			ENST00000457326.2	1	1	hg19	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627736	0.28978	.	.	ENSG00000256812	ENST00000457326	T	0.47177	0.85	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.42268	0.1195	L	0.42744	1.35	0.09310	N	0.999998	B	0.26809	0.16	B	0.26969	0.075	T	0.40664	-0.9551	9	0.62326	D	0.03	.	11.0497	0.47880	0.923:0.0:0.077:0.0	.	190	Q96L46	CPNS2_HUMAN	C	190	ENSP00000400882:Y190C	ENSP00000400882:Y190C	Y	+	2	0	CAPNS2	54158738	1.000000	0.71417	0.452000	0.26994	0.840000	0.47671	2.419000	0.44671	2.288000	0.76882	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	0	0	0	28	838	0	187	0	1.153399e-03	0	2	0	187	2		0	0	0	0	0	2	1	1	27	821	0	186	2								-19.999290	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.400000	0.260000	1.000000	0.390000	0.503760	0.400000	0	3.200000e-01	1
SLC6A2	6530	broad.mit.edu	37	16	55706056	55706056	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55706056T>C	ENST00000379906.2	+	3	868	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2			41				Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTACTCCAAGTACAAGTTCAC	0.567000																								0							SO:0001583	missense			ENST00000379906.2	1	1	hg19	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092195	0.36952	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.73897	-0.79;-0.79;-0.79	5.8	4.65	0.58169	.	0.307757	0.37012	N	0.002281	T	0.60983	0.2311	L	0.31120	0.905	0.51233	D	0.999914	B;B;B	0.15930	0.006;0.015;0.006	B;B;B	0.21546	0.013;0.035;0.013	T	0.55003	-0.8208	10	0.15066	T	0.55	.	11.8823	0.52581	0.1306:0.0:0.0:0.8694	.	205;100;205	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	H	205	ENSP00000394956:Y205H;ENSP00000369237:Y205H;ENSP00000219833:Y205H	ENSP00000219833:Y205H	Y	+	1	0	SLC6A2	54263557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	2.213000	0.71641	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2	1	0	1	50	237	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	48	228	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CES1	1066	broad.mit.edu	37	16	55844569	55844569	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55844569G>T	ENST00000361503.4	-	11	1305	c.1175C>A	c.(1174-1176)gCt>gAt	p.A392D	CES1_ENST00000360526.3_Missense_Mutation_p.A393D|CES1_ENST00000422046.2_Missense_Mutation_p.A391D			P23141	EST1_HUMAN	carboxylesterase 1							Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CAGTTCCTTAGCAATGCACTG	0.483000													NSCLC(162;1801 2756 42904 52896)											0							SO:0001583	missense			ENST00000361503.4	0	1	hg19	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.953664	0.34471	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.08984	3.09;3.09;3.03	4.69	4.69	0.59074	Carboxylesterase, type B (1);	0.644142	0.15298	N	0.269790	T	0.06872	0.0175	N	0.11131	0.1	0.09310	N	1	B;B;B	0.20261	0.021;0.043;0.017	B;B;B	0.30495	0.116;0.116;0.071	T	0.34551	-0.9824	10	0.59425	D	0.04	.	13.1724	0.59606	0.0:0.0:1.0:0.0	.	391;392;393	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	D	393;392;391;257	ENSP00000353720:A393D;ENSP00000355193:A392D;ENSP00000390492:A391D	ENSP00000353720:A393D	A	-	2	0	CES1	54402070	0.507000	0.26146	0.005000	0.12908	0.003000	0.03518	5.319000	0.65835	2.182000	0.69389	0.456000	0.33151	GCT		TCGA-IB-7651-01A-11D-2154-08	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	0	0	0	19	846	0	159	0	9.350292e-01	0	207	0	159	2		0	0	0	0	0	2	1	9.999890e-01	19	834	0	158	2								-3.060661	1	1	0	0		1						0.170000	2.060000									0	0
GNAO1	2775	broad.mit.edu	37	16	56385326	56385326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56385326G>A	ENST00000262493.6	+	7	1600	c.754G>A	c.(754-756)Gac>Aac	p.D252N	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	p.D252N(1)		17		all_neural(199;0.159)			CATGCTCTTCGACTCCATCTG	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262493.6	1	1	hg19	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850265	0.91277	.	.	ENSG00000087258	ENST00000262493	D	0.88586	-2.4	5.91	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.76328	2.33	0.80722	D	1	D	0.56746	0.977	P	0.52454	0.699	D	0.90947	0.4802	10	0.33940	T	0.23	.	17.2009	0.86906	0.0:0.126:0.874:0.0	.	252	P09471	GNAO_HUMAN	N	252	ENSP00000262493:D252N	ENSP00000262493:D252N	D	+	1	0	GNAO1	54942827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	1.493000	0.48517	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	1	0	1	30	199	0	57	0	1.381567e-01	0	5	0	57	2		0	0	0	0	0	2	1	1	29	196	0	57	2								-14.513530	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999443	0.990000	1	9.900000e-01	1
AMFR	267	broad.mit.edu	37	16	56437031	56437031	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56437031C>T	ENST00000290649.5	-	7	1051		c.e7-1			NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase			17					TGCCAAATAACTTAGAGAGAA	0.468000													Pancreas(2;144 323 39528)											0							SO:0001630	splice_region_variant			ENST00000290649.5	1	1	hg19	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049295	0.75846	.	.	ENSG00000159461	ENST00000290649	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMFR	54994532	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	7.770000	0.85390	2.540000	0.85666	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2	1	0	1	57	295	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	56	291	0	59	2								-20.000000	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BBS2	583	broad.mit.edu	37	16	56519606	56519606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56519606C>T	ENST00000245157.5	-	16	2375	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K	BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2			26					TAGCAAGTCTCTATTAAGGTC	0.368000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000245157.5	1	1	hg19	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647083	0.29246	.	.	ENSG00000125124	ENST00000245157	D	0.90444	-2.67	5.64	3.41	0.39046	.	0.131453	0.64402	N	0.000003	D	0.82563	0.5064	L	0.33245	0.995	0.34455	D	0.701105	B	0.09022	0.002	B	0.13407	0.009	T	0.75164	-0.3414	10	0.22109	T	0.4	-9.6526	7.1628	0.25672	0.0:0.4023:0.0:0.5977	.	652	Q9BXC9	BBS2_HUMAN	K	652	ENSP00000245157:R652K	ENSP00000245157:R652K	R	-	2	0	BBS2	55077107	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.301000	0.43628	0.433000	0.26313	-0.482000	0.04802	AGA		TCGA-IB-7651-01A-11D-2154-08	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	1	0	1	113	412	0	108	1	1	32	107	0	108	2		0	0	0	0	0	2	1	1	112	408	0	106	2								-3.618787	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BBS2	583	broad.mit.edu	37	16	56548368	56548368	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56548368T>A	ENST00000245157.5	-	2	762	c.342A>T	c.(340-342)agA>agT	p.R114S	BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2			26					TACTTGCCTCTCTGTAGAACA	0.353000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000245157.5	1	1	hg19	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891511	0.52014	.	.	ENSG00000125124	ENST00000245157	D	0.83075	-1.68	5.4	5.4	0.78164	WD40 repeat-like-containing domain (1);	0.124466	0.64402	D	0.000003	T	0.79879	0.4522	L	0.61218	1.895	0.48830	D	0.999713	B;B	0.34399	0.452;0.452	B;B	0.33620	0.167;0.167	T	0.81013	-0.1125	10	0.87932	D	0	-14.9158	9.8741	0.41194	0.0:0.0764:0.0:0.9236	.	114;114	A8K0N9;Q9BXC9	.;BBS2_HUMAN	S	114	ENSP00000245157:R114S	ENSP00000245157:R114S	R	-	3	2	BBS2	55105869	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.690000	0.47001	2.050000	0.60909	0.482000	0.46254	AGA		TCGA-IB-7651-01A-11D-2154-08	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	1	0	1	60	252	0	59	1	1	31	91	0	59	2		0	0	0	0	0	2	1	1	57	251	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MT1M	4499	broad.mit.edu	37	16	56666669	56666669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56666669C>T	ENST00000379818.3	+	1	525	c.26C>T	c.(25-27)aCt>aTt	p.T9I	AC026461.1_ENST00000600389.1_5'Flank	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M			5					TCCTGCACCACTGGTAAGAGA	0.592000																								0							SO:0001583	missense			ENST00000379818.3	1	1	hg19	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431737	0.25813	.	.	ENSG00000205364	ENST00000379818	T	0.10288	2.89	2.61	1.48	0.22813	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.102672	0.38005	U	0.001860	T	0.09335	0.0230	.	.	.	0.09310	N	1	B	0.26002	0.139	B	0.34301	0.179	T	0.22208	-1.0223	9	0.87932	D	0	.	5.9454	0.19215	0.3093:0.6907:0.0:0.0	.	9	Q8N339	MT1M_HUMAN	I	9	ENSP00000369146:T9I	ENSP00000369146:T9I	T	+	2	0	MT1M	55224170	0.001000	0.12720	0.009000	0.14445	0.009000	0.06853	0.537000	0.23144	1.466000	0.48025	0.306000	0.20318	ACT		TCGA-IB-7651-01A-11D-2154-08	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	1	0	1	77	483	0	118	1	9.999897e-01	12	92	0	118	2		0	0	0	0	0	2	1	1	75	471	0	117	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MT1M	4499	broad.mit.edu	37	16	56667670	56667670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56667670C>A	ENST00000379818.3	+	3	601	c.102C>A	c.(100-102)tgC>tgA	p.C34*	MT1JP_ENST00000564564.1_RNA|AC026461.1_ENST00000600389.1_5'Flank	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	p.C34C(2)		5					CAGGCTGCTGCTCCTGCTGCC	0.622000																								2	Substitution - coding silent(2)						SO:0001587	stop_gained			ENST00000379818.3	0	1	hg19	CCDS42166.1	.	.	.	.	.	.	.	.	.	.	C	37	6.037933	0.97226	.	.	ENSG00000205364	ENST00000379818	.	.	.	2.41	2.41	0.29592	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0436	0.42173	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000369146:C34X	C	+	3	2	MT1M	55225171	0.698000	0.27777	0.998000	0.56505	0.557000	0.35523	-0.062000	0.11674	1.338000	0.45544	0.461000	0.40582	TGC		TCGA-IB-7651-01A-11D-2154-08	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434359.1	1	0	1	153	853	0	216	1	9.995243e-01	5	58	0	216	2		0	0	0	0	0	2	1	1	152	839	0	214	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MT1H	4496	broad.mit.edu	37	16	56704811	56704811	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56704811C>A	ENST00000332374.4	+	3	167	c.96C>A	c.(94-96)agC>agA	p.S32R	MT1G_ENST00000569500.1_5'Flank|MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H			5					TTTCCCCAGGCTGCTGCTCCT	0.617000																								0							SO:0001630	splice_region_variant			ENST00000332374.4	1	0	hg19	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908037	0.17833	.	.	ENSG00000205358	ENST00000332374	T	0.12984	2.63	2.6	2.6	0.31112	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.064398	0.64402	U	0.000011	T	0.11750	0.0286	.	.	.	0.80722	D	1	B	0.19935	0.04	B	0.12837	0.008	T	0.08722	-1.0708	9	0.87932	D	0	.	10.313	0.43721	0.0:1.0:0.0:0.0	.	32	P80294	MT1H_HUMAN	R	32	ENSP00000330587:S32R	ENSP00000330587:S32R	S	+	3	2	MT1H	55262312	1.000000	0.71417	0.965000	0.40720	0.142000	0.21351	1.968000	0.40500	1.141000	0.42275	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	1	0	0	40	506	0	116	0	5.833633e-01	0	26	0	116	2		0	0	0	0	0	2	1	1	39	499	0	116	2								-10.010050	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.870000	0.630000	1.000000	1.000000	0.869667	0.870000	1	7.400000e-01	1
NUP93	9688	broad.mit.edu	37	16	56867301	56867301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56867301G>A	ENST00000308159.5	+	13	1641	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	NUP93_ENST00000564887.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E|NUP93_ENST00000542526.1_Missense_Mutation_p.G384E	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa			27					AAGTCCTCTGGACAGAGTGCT	0.537000													Colon(33;610 796 1305 1705 38917)											0							SO:0001583	missense			ENST00000308159.5	1	1	hg19	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216492	0.58452	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.42131	0.98;0.98	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.36672	1.1	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.09228	-1.0684	10	0.27785	T	0.31	-12.0839	19.7096	0.96089	0.0:0.0:1.0:0.0	.	507	Q8N1F7	NUP93_HUMAN	E	507;384	ENSP00000310668:G507E;ENSP00000440235:G384E	ENSP00000310668:G507E	G	+	2	0	NUP93	55424802	1.000000	0.71417	0.982000	0.44146	0.655000	0.38815	7.863000	0.87023	2.652000	0.90054	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	1	0	1	52	199	0	49	1	9.999990e-01	29	54	0	49	2		0	0	0	0	0	2	1	1	50	198	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A3	6559	broad.mit.edu	37	16	56906698	56906698	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56906698G>T	ENST00000563236.1	+	8	1120	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	SLC12A3_ENST00000262502.5_Splice_Site_p.K364N|SLC12A3_ENST00000438926.2_Splice_Site_p.K365N|SLC12A3_ENST00000566786.1_Splice_Site_p.K364N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3			50				Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GTGACCTCAAGGTGAGCAGAA	0.597000																								0							SO:0001630	splice_region_variant			ENST00000563236.1	1	0	hg19	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902203	0.72754	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.67	4.72	0.59763	Amino acid permease domain (1);	0.044027	0.85682	D	0.000000	D	0.86243	0.5886	H	0.95816	3.725	0.80722	D	1	B;P;P	0.43412	0.329;0.806;0.769	B;P;P	0.61397	0.279;0.888;0.821	D	0.89721	0.3919	9	0.87932	D	0	.	14.6175	0.68560	0.0702:0.0:0.9297:0.0	.	364;365;365	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	364;365	.	ENSP00000262502:K365N	K	+	3	2	SLC12A3	55464199	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.634000	0.61325	1.395000	0.46643	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	1	0	1	57	254	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	56	249	0	67	2								-3.198577	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A3	6559	broad.mit.edu	37	16	56926867	56926867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56926867G>T	ENST00000563236.1	+	21	2447	c.2422G>T	c.(2422-2424)Gac>Tac	p.D808Y	SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y|SLC12A3_ENST00000438926.2_Missense_Mutation_p.D817Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3			50				Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTGCAGTGGACCCCAAGGC	0.642000																								0							SO:0001583	missense			ENST00000563236.1	1	1	hg19	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383581	0.25031	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.09	1.48	0.22813	.	0.794787	0.11471	N	0.560748	T	0.66187	0.2764	M	0.77313	2.365	0.36043	D	0.840258	P;P;P	0.41673	0.759;0.712;0.512	P;B;B	0.49953	0.627;0.429;0.391	T	0.70590	-0.4830	9	0.62326	D	0.03	.	8.3943	0.32548	0.1684:0.133:0.6986:0.0	.	816;808;817	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Y	816;817	.	ENSP00000262502:D817Y	D	+	1	0	SLC12A3	55484368	1.000000	0.71417	0.972000	0.41901	0.205000	0.24178	3.972000	0.56838	0.529000	0.28599	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	1	0	1	32	147	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	31	141	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
HERPUD1	9709	broad.mit.edu	37	16	56977193	56977193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56977193C>T	ENST00000439977.2	+	8	1364	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Silent_p.I364I|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Silent_p.I388I|HERPUD1_ENST00000344114.4_Silent_p.I230I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1			11					CCCCAGCCATCGCAAACTGAT	0.522000			T	ERG	prostate										Dom	yes		16	16q12.2-q13	9709	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1		E	0							SO:0001819	synonymous_variant			ENST00000439977.2	1	1	hg19	CCDS10771.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5	0	0	0	200	921	0	238	1	1	167	964	0	238	2		0	0	0	0	0	2	1	1	197	907	0	233	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRC5	84166	broad.mit.edu	37	16	57060576	57060576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57060576G>A	ENST00000262510.6	+	6	1946	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H|NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H|NLRC5_ENST00000436936.1_Missense_Mutation_p.R574H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5			75		all_neural(199;0.225)			TGCACCTGCCGCCCCTTCCTT	0.632000																								0							SO:0001583	missense			ENST00000262510.6	1	1	hg19	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098957	0.08681	2.27E-4	0.0	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.36	-3.61	0.04556	.	1.014940	0.07930	N	0.977276	T	0.74152	0.3679	L	0.39566	1.225	0.09310	N	1	B;B;B;B	0.23316	0.083;0.067;0.012;0.007	B;B;B;B	0.16289	0.01;0.015;0.009;0.006	T	0.58165	-0.7684	10	0.39692	T	0.17	.	5.0745	0.14625	0.4379:0.0:0.3413:0.2208	.	574;574;574;574	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	H	574;574;574;48;574;81	ENSP00000262510:R574H;ENSP00000308886:R574H;ENSP00000389739:R574H;ENSP00000441727:R574H;ENSP00000441597:R81H	ENSP00000262510:R574H	R	+	2	0	NLRC5	55618077	0.000000	0.05858	0.030000	0.17652	0.031000	0.12232	0.137000	0.15995	-0.473000	0.06871	-0.310000	0.09108	CGC		TCGA-IB-7651-01A-11D-2154-08	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1	39	405	0	91	1	9.779261e-01	9	56	0	91	2		0	0	0	0	0	2	1	1	39	391	0	88	2								-3.075755	1	1	121412	2	33	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.750000	1.000000	1.000000	0.961386	0.990000	1	8.900000e-01	1
NLRC5	84166	broad.mit.edu	37	16	57068112	57068112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57068112C>T	ENST00000262510.6	+	13	2801	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V	NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V|NLRC5_ENST00000436936.1_Missense_Mutation_p.A859V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5			75		all_neural(199;0.225)			GTCCACGATGCGGAGGCCCTC	0.622000																								0							SO:0001583	missense			ENST00000262510.6	1	1	hg19	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918783	0.33908	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.82	0.146	0.14833	.	1.318100	0.05844	N	0.619853	T	0.25044	0.0608	N	0.05124	-0.11	0.09310	N	1	P;P;B;B	0.37061	0.58;0.542;0.375;0.051	B;B;B;B	0.33890	0.144;0.172;0.089;0.014	T	0.07673	-1.0760	10	0.06365	T	0.9	.	7.0124	0.24869	0.0:0.4574:0.0:0.5426	.	859;859;859;859	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	V	859;859;859;333;859;366;158	ENSP00000262510:A859V;ENSP00000308886:A859V;ENSP00000389739:A859V;ENSP00000441727:A859V;ENSP00000441597:A366V;ENSP00000440153:A158V	ENSP00000262510:A859V	A	+	2	0	NLRC5	55625613	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.010000	0.03656	-0.157000	0.11059	-1.244000	0.01528	GCG		TCGA-IB-7651-01A-11D-2154-08	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1	18	130	0	38	1	9.927264e-01	13	48	0	38	2		0	0	0	0	0	2	1	9.999861e-01	18	128	0	38	2								-20.000000	1	1	121412	3	32	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.890000	1.000000	1.000000	0.994079	0.990000	1	9.900000e-01	1
NLRC5	84166	broad.mit.edu	37	16	57077468	57077468	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57077468T>C	ENST00000262510.6	+	20	3380	c.3155T>C	c.(3154-3156)tTg>tCg	p.L1052S	NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S|NLRC5_ENST00000436936.1_Missense_Mutation_p.L1052S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5			75		all_neural(199;0.225)			GTGTTGGGTTTGGTTCGGTGC	0.602000																								0							SO:0001583	missense			ENST00000262510.6	1	1	hg19	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867533	0.51588	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.29	4.29	0.51040	.	0.000000	0.27469	N	0.019238	D	0.83087	0.5178	M	0.83118	2.625	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74595	-0.3613	10	0.87932	D	0	.	10.0221	0.42048	0.0:0.0:0.0:1.0	.	1052;1052;1052;1052	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	S	1052;1052;1052;526;1052;559;351	ENSP00000262510:L1052S;ENSP00000308886:L1052S;ENSP00000389739:L1052S;ENSP00000441727:L1052S;ENSP00000441597:L559S;ENSP00000440153:L351S	ENSP00000262510:L1052S	L	+	2	0	NLRC5	55634969	0.106000	0.21978	0.093000	0.20910	0.004000	0.04260	1.686000	0.37669	1.941000	0.56285	0.460000	0.39030	TTG		TCGA-IB-7651-01A-11D-2154-08	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1	278	1180	0	244	1	9.999998e-01	22	67	0	244	2		0	0	0	0	0	2	1	1	273	1151	0	240	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRC5	84166	broad.mit.edu	37	16	57091998	57091998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57091998C>T	ENST00000262510.6	+	28	3993	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	NLRC5_ENST00000539144.1_Silent_p.G1227G|NLRC5_ENST00000308149.7_Silent_p.G1227G|NLRC5_ENST00000436936.1_Silent_p.G1256G|RP11-322D14.2_ENST00000562970.1_RNA	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5			75		all_neural(199;0.225)			ACCTGCTGGGCGACAGCGGAC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000262510.6	1	1	hg19	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.908825	0.02434	.	.	ENSG00000140853	ENST00000538805;ENST00000399221	.	.	.	4.68	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9464	0.01366	0.1515:0.2682:0.1567:0.4237	.	.	.	.	X	1008;8	.	.	R	+	1	2	NLRC5	55649499	0.995000	0.38212	0.443000	0.26883	0.005000	0.04900	-0.097000	0.11042	-0.621000	0.05633	-1.490000	0.00973	CGA		TCGA-IB-7651-01A-11D-2154-08	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1	17	63	0	44	1	9.999956e-01	28	64	0	44	2		0	0	0	0	0	2	1	9.999794e-01	17	61	0	44	2								-20.000000	1	1	121406	3	35	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999935	0.990000	1	9.900000e-01	1
NLRC5	84166	broad.mit.edu	37	16	57111861	57111861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57111861C>T	ENST00000262510.6	+	43	5235	c.5010C>T	c.(5008-5010)ggC>ggT	p.G1670G	NLRC5_ENST00000539144.1_Silent_p.G1641G|NLRC5_ENST00000308149.7_Silent_p.G1641G|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5			75		all_neural(199;0.225)			CCAGGCTTGGCTGCAATGCCC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000262510.6	1	1	hg19	CCDS10773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	0	0	0	8	244	0	47	1	8.469470e-01	6	100	0	47	2		0	0	0	0	0	2	1	9.895223e-01	8	243	0	46	2								-9.429105	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.400000	0.180000	1.000000	0.370000	0.438767	0.400000	0	2.700000e-01	5.700000e-01
NLRC5	84166	broad.mit.edu	37	16	57116360	57116360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57116360G>A	ENST00000262510.6	+	49	5746	c.5521G>A	c.(5521-5523)Gcc>Acc	p.A1841T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5			75		all_neural(199;0.225)			CTGCGACATGGCCCAGCACCT	0.567000																								0							SO:0001583	missense			ENST00000262510.6	1	1	hg19	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039218	0.75617	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.54479	0.57;0.57;0.57	4.47	4.47	0.54385	.	0.898467	0.09038	N	0.857661	T	0.67202	0.2868	M	0.78344	2.41	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.66192	-0.5985	10	0.56958	D	0.05	.	13.013	0.58741	0.0:0.0:1.0:0.0	.	1841	Q86WI3	NLRC5_HUMAN	T	1841;1812;1812	ENSP00000262510:A1841T;ENSP00000308886:A1812T;ENSP00000441727:A1812T	ENSP00000262510:A1841T	A	+	1	0	NLRC5	55673861	0.999000	0.42202	0.665000	0.29768	0.006000	0.05464	4.344000	0.59354	2.203000	0.70933	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1	82	445	0	123	1	9.999990e-01	27	81	0	123	2		0	0	0	0	0	2	1	1	81	438	0	123	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPNE2	221184	broad.mit.edu	37	16	57149461	57149461	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57149461C>T	ENST00000535318.2	+	5	795	c.434C>T	c.(433-435)aCg>aTg	p.T145M	CPNE2_ENST00000290776.8_Splice_Site_p.T145M|CPNE2_ENST00000537605.1_Splice_Site_p.T43M|CPNE2_ENST00000565874.1_Splice_Site_p.T145M			Q96FN4	CPNE2_HUMAN	copine II			21		all_neural(199;0.224)			GGCTTGATTACGGTACCAGTC	0.607000																								0							SO:0001630	splice_region_variant			ENST00000535318.2	1	0	hg19	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527307	0.44969	4.55E-4	0.0	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.09255	3.43;3.0;3.43	4.73	3.78	0.43462	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	M	0.83852	2.665	0.54753	D	0.999988	D;P	0.69078	0.997;0.668	P;B	0.50231	0.635;0.207	T	0.11108	-1.0601	10	0.66056	D	0.02	-10.54	13.0984	0.59206	0.0:0.9224:0.0:0.0776	.	145;145	A8K8A4;Q96FN4	.;CPNE2_HUMAN	M	145;43;145	ENSP00000290776:T145M;ENSP00000445468:T43M;ENSP00000439018:T145M	ENSP00000290776:T145M	T	+	2	0	CPNE2	55706962	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.616000	0.54174	1.015000	0.39444	-0.119000	0.15052	ACG		TCGA-IB-7651-01A-11D-2154-08	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	1	0	0	59	231	0	46	1	9.999964e-01	2	74	0	46	2		0	0	0	0	0	2	1	1	58	221	0	45	2								-20.000000	1	1	121412	6	38	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM192A	80011	broad.mit.edu	37	16	57188214	57188214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57188214G>A	ENST00000309137.8	-	7	1011	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM192A_ENST00000566077.1_Silent_p.L174L|FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000567439.1_Silent_p.L251L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A			11					AGGGGGCCTCGAGGAAGGTGT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000309137.8	1	1	hg19	CCDS42168.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	1	0	1	29	162	0	34	1	1	86	265	0	34	2		0	0	0	0	0	2	1	1	28	156	0	34	2								-3.244450	1	1	120896	1	33	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999924	0.990000	1	9.900000e-01	1
RSPRY1	89970	broad.mit.edu	37	16	57272872	57272872	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57272872T>G	ENST00000537866.1	+	15	2589	c.1716T>G	c.(1714-1716)atT>atG	p.I572M	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.I572M			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1			27					TCAGACAGATTTCTCATATTT	0.393000																								0							SO:0001583	missense			ENST00000537866.1	1	1	hg19	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572026	0.45798	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.86366	-2.11;-2.11	5.73	0.987	0.19790	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.67397	2.05	0.49051	D	0.999746	D	0.56521	0.976	P	0.50659	0.647	T	0.81957	-0.0695	10	0.52906	T	0.07	.	5.7173	0.17968	0.1194:0.3027:0.0:0.5779	.	572	Q96DX4	RSPRY_HUMAN	M	572	ENSP00000377942:I572M;ENSP00000443176:I572M	ENSP00000377942:I572M	I	+	3	3	RSPRY1	55830373	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.341000	0.19909	0.105000	0.17753	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	0	0	0	10	232	0	54	1	8.957539e-01	5	90	0	54	2		0	0	0	0	0	2	1	9.969926e-01	10	231	0	54	2								-12.262420	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.510000	0.260000	1.000000	0.480000	0.544767	0.510000	0	3.700000e-01	7.100000e-01
CX3CL1	6376	broad.mit.edu	37	16	57416775	57416775	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57416775C>T	ENST00000006053.6	+	3	1136	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	CX3CL1_ENST00000563383.1_Missense_Mutation_p.A348V|CX3CL1_ENST00000565912.1_Missense_Mutation_p.A304V	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1			5					CGGAGGCAGGCGGTGGGGCTG	0.657000																								0							SO:0001583	missense			ENST00000006053.6	1	1	hg19	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269945	0.80469	.	.	ENSG00000006210	ENST00000006053	T	0.13778	2.56	5.19	5.19	0.71726	.	0.607960	0.13882	N	0.356231	T	0.28995	0.0720	L	0.36672	1.1	0.41076	D	0.985482	D	0.89917	1.0	D	0.81914	0.995	T	0.01401	-1.1364	10	0.87932	D	0	-27.547	14.2662	0.66121	0.0:1.0:0.0:0.0	.	342	P78423	X3CL1_HUMAN	V	342	ENSP00000006053:A342V	ENSP00000006053:A342V	A	+	2	0	CX3CL1	55974276	0.987000	0.35691	0.982000	0.44146	0.728000	0.41692	3.446000	0.52928	2.412000	0.81896	0.558000	0.71614	GCG		TCGA-IB-7651-01A-11D-2154-08	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	1	0	1	73	333	0	62	1	1	6	108	0	62	2		0	0	0	0	0	2	1	1	72	330	0	61	2								-20.000000	1	1	121252	8	41	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIAPIN1	57019	broad.mit.edu	37	16	57463101	57463101	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57463101C>A	ENST00000569979.1	-	6	768	c.722G>T	c.(721-723)aGc>aTc	p.S241I	CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I|CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000569370.1_3'UTR|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S307I					cytokine induced apoptosis inhibitor 1			10					ATGAAGATTGCTATCACTCAG	0.582000																								0							SO:0001583	missense			ENST00000569979.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.39	2.818791	0.50633	.	.	ENSG00000005194	ENST00000394391	T	0.32272	1.46	4.73	-0.119	0.13543	.	0.716513	0.14083	N	0.342575	T	0.26629	0.0651	L	0.46157	1.445	0.09310	N	1	P;B	0.37636	0.603;0.201	B;B	0.42422	0.387;0.063	T	0.17992	-1.0351	10	0.59425	D	0.04	-2.4236	4.2962	0.10902	0.0:0.3044:0.1827:0.5129	.	294;307	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	I	307	ENSP00000377914:S307I	ENSP00000377914:S307I	S	-	2	0	CIAPIN1	56020602	0.002000	0.14202	0.009000	0.14445	0.753000	0.42808	0.020000	0.13466	0.174000	0.19809	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	1	0	1	39	171	0	42	1	1	68	161	0	42	2		0	0	0	0	0	2	1	1	39	168	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COQ9	57017	broad.mit.edu	37	16	57490417	57490417	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57490417C>T	ENST00000262507.6	+	4	449	c.380C>T	c.(379-381)tCt>tTt	p.S127F	COQ9_ENST00000567072.1_Splice_Site_p.S127F|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9			16					CTTTTGTAGTCTCTGGGTCTC	0.512000																								0							SO:0001630	splice_region_variant			ENST00000262507.6	1	0	hg19	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578520	0.65878	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.57	5.57	0.84162	.	0.148137	0.64402	D	0.000008	D	0.82898	0.5137	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.989;0.977	D;D;P;P	0.71656	0.974;0.943;0.885;0.723	D	0.84756	0.0759	9	0.72032	D	0.01	-9.4722	18.5507	0.91063	0.0:1.0:0.0:0.0	.	127;127;127;127	B4E0U3;B4DIV2;B4DEE3;O75208	.;.;.;COQ9_HUMAN	F	127	.	ENSP00000262507:S127F	S	+	2	0	COQ9	56047918	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	5.403000	0.66338	2.620000	0.88729	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	1	0	1	87	374	0	102	1	1	87	160	0	102	2		0	0	0	0	0	2	1	1	85	365	0	102	2								-20.000000	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOK4	55715	broad.mit.edu	37	16	57507359	57507359	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57507359T>G	ENST00000340099.4	-	9	1282	c.911A>C	c.(910-912)aAc>aCc	p.N304T	DOK4_ENST00000566936.1_Missense_Mutation_p.N343T|DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000569548.1_Missense_Mutation_p.N304T	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4			6					GATGAATCTGTTGAGGAGGTC	0.597000																								0							SO:0001583	missense			ENST00000340099.4	1	1	hg19	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473549	0.43942	.	.	ENSG00000125170	ENST00000340099	D	0.91894	-2.93	5.4	5.4	0.78164	.	0.743799	0.13215	N	0.404870	D	0.86826	0.6026	N	0.22421	0.69	0.38814	D	0.95547	B	0.16166	0.016	B	0.13407	0.009	T	0.82659	-0.0348	10	0.48119	T	0.1	-22.6822	13.1758	0.59626	0.0:0.0:0.0:1.0	.	304	Q8TEW6	DOK4_HUMAN	T	304	ENSP00000344277:N304T	ENSP00000344277:N304T	N	-	2	0	DOK4	56064860	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.356000	0.52269	2.048000	0.60808	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3	1	0	1	43	184	0	37	1	1	158	233	0	37	2		0	0	0	0	0	2	1	1	43	181	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOK4	55715	broad.mit.edu	37	16	57509522	57509522	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57509522A>C	ENST00000340099.4	-	4	556	c.185T>G	c.(184-186)aTc>aGc	p.I62S	DOK4_ENST00000566936.1_Missense_Mutation_p.I62S|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Missense_Mutation_p.I62S	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4			6					GACGTTGCTGATCTCAGTCAC	0.577000																								0							SO:0001583	missense			ENST00000340099.4	1	1	hg19	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726227	0.89298	.	.	ENSG00000125170	ENST00000340099	T	0.73047	-0.71	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	L	0.51422	1.61	0.58432	D	0.999998	D;D	0.76494	0.991;0.999	D;P	0.62955	0.909;0.869	T	0.80151	-0.1502	10	0.59425	D	0.04	-0.1115	14.4951	0.67680	1.0:0.0:0.0:0.0	.	62;62	Q8TEW6;B2RD67	DOK4_HUMAN;.	S	62	ENSP00000344277:I62S	ENSP00000344277:I62S	I	-	2	0	DOK4	56067023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.236000	0.78154	2.103000	0.63969	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3	1	0	1	17	59	0	12	1	1	117	209	0	12	2		0	0	0	0	0	2	1	9.999824e-01	17	58	0	12	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
CCDC102A	92922	broad.mit.edu	37	16	57550216	57550216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57550216C>T	ENST00000258214.2	-	7	1654	c.1408G>A	c.(1408-1410)Gct>Act	p.A470T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A			8					TCGTCCTCAGCCTGGGCCAGC	0.667000																								0							SO:0001583	missense			ENST00000258214.2	0	1	hg19	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.337255	0.81911	.	.	ENSG00000135736	ENST00000258214	T	0.78816	-1.21	3.97	3.0	0.34707	.	0.060265	0.64402	U	0.000003	T	0.80127	0.4566	M	0.68317	2.08	0.58432	D	0.999997	P	0.46327	0.876	P	0.50192	0.634	T	0.79909	-0.1604	10	0.49607	T	0.09	-7.7109	11.9481	0.52940	0.1752:0.8247:0.0:0.0	.	470	Q96A19	C102A_HUMAN	T	470	ENSP00000258214:A470T	ENSP00000258214:A470T	A	-	1	0	CCDC102A	56107717	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.586000	0.67503	0.863000	0.35553	0.466000	0.42574	GCT		TCGA-IB-7651-01A-11D-2154-08	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	0	0	0	7	216	0	31	1	5.119546e-01	2	48	0	31	2		0	0	0	0	0	2	1	9.788054e-01	7	209	0	30	2								-8.568056	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.390000	0.170000	1.000000	0.370000	0.439122	0.390000	0	2.700000e-01	5.800000e-01
GPR56	9289	broad.mit.edu	37	16	57689823	57689823	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57689823C>T	ENST00000388812.4	+	7	1376	c.936C>T	c.(934-936)gtC>gtT	p.V312V	GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000562631.1_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000568909.1_Silent_p.V312V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56			15					GTGAGAAGGTCTTGGGGATTG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000388812.4	1	1	hg19	CCDS32460.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3	1	0	1	144	682	0	172	1	1	77	163	0	172	2		0	0	0	0	0	2	1	1	139	673	0	170	2								-20.000000	1	1	121412	1	36	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR56	9289	broad.mit.edu	37	16	57693425	57693425	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57693425A>G	ENST00000388812.4	+	11	1845	c.1405A>G	c.(1405-1407)Aca>Gca	p.T469A	GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000562631.1_Missense_Mutation_p.T463A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56			15					GGTGGCCCTGACAGGCTCTGA	0.622000																								0							SO:0001583	missense			ENST00000388812.4	1	1	hg19	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	A	3.998	-0.003116	0.07773	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.9	-3.91	0.04168	GPCR, family 2-like (1);	1.372880	0.04900	N	0.451228	T	0.20577	0.0495	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.002;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.002;0.003;0.003	T	0.10359	-1.0633	10	0.27785	T	0.31	.	0.6742	0.00864	0.4539:0.1509:0.1772:0.218	.	288;468;463;469;299	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	A	463;469;463;469;463;288;299;469	ENSP00000373465:T463A;ENSP00000373464:T469A;ENSP00000444415:T463A;ENSP00000398034:T469A;ENSP00000444911:T463A;ENSP00000438006:T288A;ENSP00000369016:T299A;ENSP00000369018:T469A	ENSP00000369016:T299A	T	+	1	0	GPR56	56250926	0.000000	0.05858	0.015000	0.15790	0.489000	0.33432	-1.526000	0.02229	-0.598000	0.05806	0.482000	0.46254	ACA		TCGA-IB-7651-01A-11D-2154-08	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3	1	0	1	87	374	0	70	1	1	37	109	0	70	2		0	0	0	0	0	2	1	1	82	338	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC135	0	broad.mit.edu	37	16	57732027	57732027	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57732027C>A	ENST00000360716.3	+	3	387	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M|CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN				30					GGAGAAGAAGCTGTCAGAGAT	0.597000																								0							SO:0001583	missense			ENST00000360716.3	0	1	hg19	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368654	0.24771	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.20069	2.38;2.1;2.38	4.18	-1.39	0.08997	.	0.136039	0.33553	N	0.004795	T	0.39462	0.1079	M	0.79693	2.465	0.32066	N	0.595015	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.43458	-0.9390	10	0.72032	D	0.01	-8.9274	6.0355	0.19706	0.0:0.3466:0.4672:0.1862	.	56;56	Q8IY82-2;Q8IY82	.;CC135_HUMAN	M	56	ENSP00000377869:L56M;ENSP00000338938:L56M;ENSP00000353942:L56M	ENSP00000338938:L56M	L	+	1	2	CCDC135	56289528	0.894000	0.30519	0.393000	0.26258	0.022000	0.10575	-0.012000	0.12699	-0.191000	0.10448	-0.326000	0.08463	CTG		TCGA-IB-7651-01A-11D-2154-08	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2	1	0	1	46	229	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	46	223	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC135	0	broad.mit.edu	37	16	57762411	57762411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57762411C>T	ENST00000360716.3	+	17	2527	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V|CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V			Q8IY82	CC135_HUMAN				30					TGCTGGCAGGCGGTGCGCCTC	0.622000																								0							SO:0001583	missense			ENST00000360716.3	1	1	hg19	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.540465	0.65085	2.28E-4	0.0	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.53857	0.6;0.6;0.6	5.15	4.19	0.49359	.	0.119998	0.56097	D	0.000040	T	0.54208	0.1844	L	0.58969	1.84	0.50171	D	0.99985	P;D	0.71674	0.883;0.998	B;P	0.49192	0.146;0.602	T	0.55842	-0.8077	10	0.42905	T	0.14	-27.7712	11.8083	0.52169	0.0:0.9138:0.0:0.0862	.	704;769	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	769;704;769	ENSP00000377869:A769V;ENSP00000338938:A704V;ENSP00000353942:A769V	ENSP00000338938:A704V	A	+	2	0	CCDC135	56319912	0.998000	0.40836	0.943000	0.38184	0.601000	0.36947	4.120000	0.57897	2.399000	0.81585	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2	1	0	0	59	274	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	1	1	58	267	0	71	2								-20.000000	1	1	121222	22	44	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIFC3	3801	broad.mit.edu	37	16	57792813	57792813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57792813G>A	ENST00000379655.4	-	19	2742	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000543930.1_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000445690.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000421376.2_3'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3			23		all_neural(199;0.224)			GGCAGTGGCCGCGACTTCCCT	0.662000																								0							SO:0001583	missense			ENST00000379655.4	0	1	hg19	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685838	0.29962	0.0	1.16E-4	ENSG00000140859	ENST00000379655	T	0.75704	-0.96	3.22	2.09	0.27110	.	0.214284	0.29246	U	0.012717	T	0.54886	0.1886	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	P	0.45377	0.478	T	0.58103	-0.7695	10	0.87932	D	0	.	7.8619	0.29514	0.0:0.0:0.216:0.784	.	829	Q9BVG8	KIFC3_HUMAN	W	829	ENSP00000368976:R829W	ENSP00000368976:R829W	R	-	1	2	KIFC3	56350314	0.889000	0.30405	0.494000	0.27515	0.090000	0.18270	1.244000	0.32778	0.624000	0.30286	-0.749000	0.03505	CGG		TCGA-IB-7651-01A-11D-2154-08	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	0	0	1	43	241	1	48	1	9.914003e-01	19	123	1	48	11		0	0	0	0	0	2	1	9.996102e-01	43	239	1	47	19								-20.000000	1	1	121222	3	37	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
KIFC3	3801	broad.mit.edu	37	16	57794323	57794323	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57794323G>T	ENST00000379655.4	-	17	2495	c.2238C>A	c.(2236-2238)tcC>tcA	p.S746S	KIFC3_ENST00000540079.2_Silent_p.S644S|KIFC3_ENST00000543930.1_Silent_p.S604S|KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000445690.2_Silent_p.S746S|KIFC3_ENST00000541240.1_Silent_p.S768S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000421376.2_Silent_p.S607S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3			23		all_neural(199;0.224)			TCTCCACGGGGGACACCTAGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000379655.4	1	1	hg19	CCDS10789.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	1	0	1	56	330	0	72	1	1	31	128	0	72	2		0	0	0	0	0	2	1	1	55	324	0	71	2								-3.223198	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
KIFC3	3801	broad.mit.edu	37	16	57798095	57798095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57798095G>A	ENST00000379655.4	-	12	1834	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3			23		all_neural(199;0.224)			CTGGCCGTACGCAAAGATGCA	0.637000																								0							SO:0001583	missense			ENST00000379655.4	1	1	hg19	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	g	23.9	4.475183	0.84640	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.02	5.02	0.67125	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.75020	0.971;0.951;0.98;0.975;0.985;0.971;0.959	T	0.79773	-0.1662	10	0.87932	D	0	.	17.3476	0.87314	0.0:0.0:1.0:0.0	.	548;468;384;424;231;526;387	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	V	526;526;387;548;424;384;468	ENSP00000368976:A526V;ENSP00000401696:A526V;ENSP00000396399:A387V;ENSP00000442008:A548V;ENSP00000438805:A424V;ENSP00000444012:A384V;ENSP00000444884:A468V	ENSP00000368976:A526V	A	-	2	0	KIFC3	56355596	1.000000	0.71417	0.908000	0.35775	0.289000	0.27227	9.820000	0.99359	2.345000	0.79718	0.552000	0.68991	GCG		TCGA-IB-7651-01A-11D-2154-08	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	1	0	1	42	247	0	65	1	1	40	129	0	65	2		0	0	0	0	0	2	1	1	42	243	0	63	2								-3.226014	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
KIFC3	3801	broad.mit.edu	37	16	57803523	57803523	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57803523C>A	ENST00000379655.4	-	9	1459	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M|KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3			23		all_neural(199;0.224)			CTTGACACTCCTGAGGGCCTC	0.657000																								0							SO:0001583	missense			ENST00000379655.4	1	1	hg19	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006246	0.35415	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.75477	-0.86;-0.86;-0.86;-0.87;-0.85;-0.94;-0.87	5.86	-3.14	0.05250	.	0.730840	0.14053	N	0.344569	T	0.67401	0.2889	L	0.39898	1.24	0.09310	N	1	P;P;B;B;B;P;B	0.39181	0.533;0.663;0.24;0.238;0.153;0.533;0.102	B;B;B;B;B;B;B	0.43251	0.155;0.413;0.155;0.357;0.111;0.155;0.078	T	0.63708	-0.6576	10	0.54805	T	0.06	.	13.8935	0.63755	0.0:0.5905:0.0:0.4095	.	423;343;262;299;106;401;262	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	M	401;401;262;423;299;262;343	ENSP00000368976:R401M;ENSP00000401696:R401M;ENSP00000396399:R262M;ENSP00000442008:R423M;ENSP00000438805:R299M;ENSP00000444012:R262M;ENSP00000444884:R343M	ENSP00000368976:R401M	R	-	2	0	KIFC3	56361024	0.001000	0.12720	0.014000	0.15608	0.233000	0.25261	-0.416000	0.07097	-0.452000	0.07087	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	1	0	1	53	238	0	41	1	1	28	99	0	41	2		0	0	0	0	0	2	1	1	52	235	0	40	2								-3.261291	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNGB1	1258	broad.mit.edu	37	16	57918346	57918346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57918346C>A	ENST00000251102.8	-	33	3538	c.3478G>T	c.(3478-3480)Gac>Tac	p.D1160Y	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1154Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1			54					CCCTTGACGTCTTGCGAGCTC	0.672000													Colon(156;1293 1853 16336 28962 38659)											0							SO:0001583	missense			ENST00000251102.8	1	1	hg19	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302802	0.23736	.	.	ENSG00000070729	ENST00000251102	D	0.96685	-4.09	3.93	2.98	0.34508	.	0.806464	0.11325	N	0.575614	D	0.95414	0.8511	L	0.44542	1.39	0.20703	N	0.999867	D;P	0.54207	0.965;0.94	P;P	0.54312	0.748;0.564	D	0.88986	0.3411	10	0.72032	D	0.01	.	7.4308	0.27126	0.0:0.8823:0.0:0.1177	.	532;1160	Q14028-2;Q14028	.;CNGB1_HUMAN	Y	1160	ENSP00000251102:D1160Y	ENSP00000251102:D1160Y	D	-	1	0	CNGB1	56475847	0.004000	0.15560	0.007000	0.13788	0.134000	0.20937	1.662000	0.37418	1.233000	0.43693	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	1	52	245	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	1	52	244	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNGB1	1258	broad.mit.edu	37	16	57957180	57957180	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57957180G>T	ENST00000251102.8	-	18	1700	c.1640C>A	c.(1639-1641)aCt>aAt	p.T547N	CNGB1_ENST00000564448.1_Missense_Mutation_p.T541N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1			54					GTCTCACTCAGTGTCCTTCGG	0.582000													Colon(156;1293 1853 16336 28962 38659)											0							SO:0001583	missense			ENST00000251102.8	1	1	hg19	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697899	0.48307	.	.	ENSG00000070729	ENST00000251102	T	0.29397	1.57	4.97	1.69	0.24217	.	0.655524	0.13615	N	0.374836	T	0.34048	0.0884	L	0.57536	1.79	0.09310	N	0.999999	D	0.58970	0.984	P	0.52672	0.706	T	0.12451	-1.0547	10	0.27785	T	0.31	.	3.9819	0.09498	0.1996:0.0:0.6032:0.1972	.	547	Q14028	CNGB1_HUMAN	N	547	ENSP00000251102:T547N	ENSP00000251102:T547N	T	-	2	0	CNGB1	56514681	0.012000	0.17670	0.616000	0.29078	0.522000	0.34438	1.527000	0.35975	0.681000	0.31386	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	0	37	244	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	36	240	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999794	0.990000	1	9.900000e-01	1
CNGB1	1258	broad.mit.edu	37	16	57973480	57973480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57973480A>C	ENST00000251102.8	-	16	1286	c.1226T>G	c.(1225-1227)gTt>gGt	p.V409G	CNGB1_ENST00000564448.1_Missense_Mutation_p.V403G|CNGB1_ENST00000564654.1_5'UTR	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1			54					ctcctccccaacttcctccCA	0.572000													Colon(156;1293 1853 16336 28962 38659)											0							SO:0001583	missense			ENST00000251102.8	1	1	hg19	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	0.147	-1.095945	0.01843	.	.	ENSG00000070729	ENST00000251102	T	0.28255	1.62	0.637	-0.447	0.12234	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21965	-1.0230	8	0.66056	D	0.02	.	.	.	.	.	409	Q14028	CNGB1_HUMAN	G	409	ENSP00000251102:V409G	ENSP00000251102:V409G	V	-	2	0	CNGB1	56530981	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.035000	0.13797	-0.191000	0.10448	-0.407000	0.06327	GTT		TCGA-IB-7651-01A-11D-2154-08	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	1	63	274	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	58	260	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNGB1	1258	broad.mit.edu	37	16	57998403	57998403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57998403G>A	ENST00000251102.8	-	3	265	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CNGB1_ENST00000564448.1_Missense_Mutation_p.P69S|CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1			54					TGAGGGCTTGGGTCTGCCACA	0.632000													Colon(156;1293 1853 16336 28962 38659)											0							SO:0001583	missense			ENST00000251102.8	1	1	hg19	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459938	0.26248	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96427	-4.01;0.97	3.75	2.8	0.32819	.	0.232817	0.22319	N	0.061633	D	0.92993	0.7770	L	0.43923	1.385	0.09310	N	1	P;B	0.36392	0.551;0.028	B;B	0.38842	0.283;0.009	D	0.88097	0.2817	10	0.87932	D	0	.	7.1745	0.25736	0.1202:0.0:0.8798:0.0	.	69;69	Q14028-3;Q14028	.;CNGB1_HUMAN	S	69	ENSP00000251102:P69S;ENSP00000311670:P69S	ENSP00000251102:P69S	P	-	1	0	CNGB1	56555904	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.624000	0.24462	1.157000	0.42530	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	1	0	1	49	219	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	47	214	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF319	57567	broad.mit.edu	37	16	58031620	58031620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58031620G>T	ENST00000299237.2	-	2	1172	c.550C>A	c.(550-552)Ccc>Acc	p.P184T	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319			8					GGTGCTGCGGGAAGCGACGGG	0.632000																								0							SO:0001583	missense			ENST00000299237.2	1	1	hg19	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774707	0.02951	.	.	ENSG00000166188	ENST00000299237	T	0.02863	4.13	3.86	2.87	0.33458	.	0.103862	0.42172	U	0.000741	T	0.01905	0.0060	L	0.29908	0.895	0.34535	D	0.709588	P	0.39480	0.675	B	0.27887	0.084	T	0.55891	-0.8069	10	0.15499	T	0.54	-12.5787	10.88	0.46933	0.0:0.0:0.8105:0.1895	.	184	Q9P2F9	ZN319_HUMAN	T	184	ENSP00000299237:P184T	ENSP00000299237:P184T	P	-	1	0	ZNF319	56589121	0.969000	0.33509	0.337000	0.25536	0.015000	0.08874	5.094000	0.64523	1.155000	0.42497	0.563000	0.77884	CCC		TCGA-IB-7651-01A-11D-2154-08	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1	1	0	1	299	1129	0	177	1	9.851946e-01	3	24	0	177	2		0	0	0	0	0	2	1	1	295	1109	0	172	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP15	4324	broad.mit.edu	37	16	58079010	58079010	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079010T>C	ENST00000219271.3	+	10	2455	c.1670T>C	c.(1669-1671)aTg>aCg	p.M557T		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)			18				Marimastat(DB00786)	CGGGACTTCATGGGCTGCCAG	0.667000																								0							SO:0001583	missense			ENST00000219271.3	0	1	hg19	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057026	0.76074	.	.	ENSG00000102996	ENST00000219271	T	0.02472	4.28	4.65	4.65	0.58169	Hemopexin/matrixin (2);	0.037572	0.85682	D	0.000000	T	0.14227	0.0344	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	T	0.00163	-1.1969	10	0.87932	D	0	.	12.074	0.53632	0.0:0.0:0.0:1.0	.	557	P51511	MMP15_HUMAN	T	557	ENSP00000219271:M557T	ENSP00000219271:M557T	M	+	2	0	MMP15	56636511	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.857000	0.86963	1.958000	0.56883	0.454000	0.30748	ATG		TCGA-IB-7651-01A-11D-2154-08	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	0	0	0	4	102	0	18	1	9.617507e-01	14	148	0	18	2		0	0	0	0	0	2	1	8.872446e-01	4	100	0	18	2								-7.741718	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.500000	0.170000	1.000000	1.000000	0.541058	0.500000	0	3.000000e-01	8.000000e-01
MMP15	4324	broad.mit.edu	37	16	58079274	58079274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079274C>T	ENST00000219271.3	+	10	2719	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)			18				Marimastat(DB00786)	CTCACCTACGCGCTGGTGCAG	0.652000																								0							SO:0001583	missense			ENST00000219271.3	1	1	hg19	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840009	0.16891	.	.	ENSG00000102996	ENST00000219271	T	0.32023	1.47	4.65	1.37	0.22104	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.354298	0.31936	N	0.006838	T	0.10937	0.0267	N	0.03209	-0.39	0.40827	D	0.983555	B	0.28470	0.213	B	0.31495	0.131	T	0.09509	-1.0671	10	0.26408	T	0.33	.	3.1214	0.06392	0.0:0.4653:0.219:0.3157	.	645	P51511	MMP15_HUMAN	V	645	ENSP00000219271:A645V	ENSP00000219271:A645V	A	+	2	0	MMP15	56636775	0.652000	0.27349	0.042000	0.18584	0.046000	0.14306	1.282000	0.33226	0.565000	0.29255	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	1	0	1	16	46	0	15	1	1	138	146	0	15	2		0	0	0	0	0	2	1	9.999686e-01	16	45	0	15	2								-20.000000	1	1	120648	2	21	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
CCDC113	29070	broad.mit.edu	37	16	58292383	58292383	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58292383A>C	ENST00000219299.4	+	4	581	c.502A>C	c.(502-504)Act>Cct	p.T168P	CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113			12					TATTTTGGCCACTCAGAAAGT	0.413000																								0							SO:0001583	missense			ENST00000219299.4	1	1	hg19	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024128	0.35701	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.32023	1.47;1.51	5.18	5.18	0.71444	.	0.171358	0.52532	D	0.000061	T	0.27384	0.0672	L	0.55103	1.725	0.34379	D	0.692857	B;B	0.23377	0.012;0.084	B;B	0.24269	0.012;0.052	T	0.32134	-0.9918	10	0.21540	T	0.41	-15.1493	9.5198	0.39129	0.8226:0.1774:0.0:0.0	.	114;168	B4DR20;Q9H0I3	.;CC113_HUMAN	P	114;168	ENSP00000402588:T114P;ENSP00000219299:T168P	ENSP00000219299:T168P	T	+	1	0	CCDC113	56849884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.543000	0.36147	2.084000	0.62774	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	0	0	1	76	296	0	79	1	3.589942e-01	3	3	0	79	2		0	0	0	0	0	2	1	1	73	291	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS54	221191	broad.mit.edu	37	16	58318538	58318538	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58318538C>T	ENST00000219301.4	-	6	1004	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K|PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K|PRSS54_ENST00000563336.1_5'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54			25					CTGCCGCATTCTGTCTTCTGG	0.463000																								0							SO:0001583	missense			ENST00000219301.4	1	1	hg19	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	C	8.641	0.896084	0.17686	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;D	0.88509	-2.39;-2.39	5.83	4.88	0.63580	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.747469	0.12424	N	0.470150	T	0.81069	0.4746	L	0.29908	0.895	0.19775	N	0.99996	P	0.36438	0.553	B	0.37387	0.248	T	0.67381	-0.5685	10	0.05959	T	0.93	-2.453	10.6438	0.45608	0.0:0.9126:0.0:0.0874	.	204	Q6PEW0	PRS54_HUMAN	K	204;105	ENSP00000219301:E204K;ENSP00000437705:E105K	ENSP00000219301:E204K	E	-	1	0	PRSS54	56876039	0.870000	0.30015	0.731000	0.30826	0.022000	0.10575	2.661000	0.46758	1.467000	0.48044	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	1	0	1	95	389	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	94	376	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS54	221191	broad.mit.edu	37	16	58319950	58319950	+	Missense_Mutation	SNP	G	G	A	rs149972398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58319950G>A	ENST00000219301.4	-	5	807	c.413C>T	c.(412-414)gCg>gTg	p.A138V	PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V|PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V|PRSS54_ENST00000563336.1_5'Flank	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54			25					AAAATGCATCGCTGTGTCTGT	0.493000																								0							SO:0001583	missense			ENST00000219301.4	1	1	hg19	CCDS32463.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.36	2.213193	0.39102	0.0	1.16E-4	ENSG00000103023	ENST00000219301;ENST00000543437	T;T	0.59906	0.23;0.23	5.5	3.47	0.39725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.437819	0.21555	N	0.072678	T	0.70894	0.3276	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	P	0.62885	0.908	T	0.62656	-0.6808	10	0.54805	T	0.06	-5.0004	11.0333	0.47787	0.0:0.0:0.634:0.366	.	138	Q6PEW0	PRS54_HUMAN	V	138;39	ENSP00000219301:A138V;ENSP00000437705:A39V	ENSP00000219301:A138V	A	-	2	0	PRSS54	56877451	0.018000	0.18449	0.001000	0.08648	0.542000	0.35054	1.985000	0.40668	0.614000	0.30107	-0.284000	0.09977	GCG		TCGA-IB-7651-01A-11D-2154-08	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	1	0	0	57	646	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	1	55	641	0	156	2								-13.429190	1	1	121412	18	49	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.960000	0.730000	1.000000	1.000000	0.935516	0.960000	1	8.400000e-01	1
GINS3	64785	broad.mit.edu	37	16	58438412	58438412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58438412G>A	ENST00000318129.5	+	3	638	c.430G>A	c.(430-432)Gga>Aga	p.G144R	GINS3_ENST00000328514.7_Missense_Mutation_p.G66R|GINS3_ENST00000426538.2_Missense_Mutation_p.G183R	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)			7					GACTTTTATCGGACGTTTTCG	0.463000																								0							SO:0001583	missense			ENST00000318129.5	1	1	hg19	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370616	0.82573	0.0	1.16E-4	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T;T;T	0.17528	2.27;2.27;2.27	5.95	5.95	0.96441	.	0.100927	0.64402	D	0.000002	T	0.32133	0.0819	L	0.51914	1.62	0.58432	D	0.999997	D;D;P	0.76494	0.999;0.999;0.881	D;P;B	0.67900	0.954;0.875;0.141	T	0.01175	-1.1428	10	0.15952	T	0.53	-0.9754	14.5934	0.68386	0.0714:0.0:0.9286:0.0	.	183;66;144	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	R	183;66;144	ENSP00000401018:G183R;ENSP00000327449:G66R;ENSP00000318196:G144R	ENSP00000318196:G144R	G	+	1	0	GINS3	56995913	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.387000	0.59626	2.824000	0.97209	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	1	0	1	52	224	0	56	1	9.870851e-01	17	15	0	56	2		0	0	0	0	0	2	1	1	52	219	0	55	2								-2.843453	1	1	121412	2	34	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDRG4	65009	broad.mit.edu	37	16	58538164	58538164	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58538164G>A	ENST00000570248.1	+	3	340	c.234G>A	c.(232-234)tcG>tcA	p.S78S	NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000394282.4_Silent_p.S130S|NDRG4_ENST00000563799.1_Silent_p.S96S|NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000356752.4_Silent_p.S108S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000566192.1_Silent_p.S78S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4			11					TGGGGGCGTCGCAGTTTCCTC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000570248.1	1	1	hg19	CCDS58466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2	1	0	1	127	618	0	128	0	5.304530e-01	1	9	0	128	2		0	0	0	0	0	2	1	1	128	611	0	126	2								-3.152331	1	1	121412	9	44	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDRG4	65009	broad.mit.edu	37	16	58545414	58545414	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58545414C>A	ENST00000570248.1	+	15	1099	c.993C>A	c.(991-993)gcC>gcA	p.A331A	NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000394282.4_Silent_p.A370A|NDRG4_ENST00000563799.1_Silent_p.A336A|NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000356752.4_Silent_p.A348A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000566192.1_Silent_p.A318A	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4			11					GCCCACAGGCCTGCACCCACT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000570248.1	1	1	hg19	CCDS58466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2	1	0	0	116	373	0	86	1	9.825963e-01	4	19	0	86	2		0	0	0	0	0	2	1	1	116	369	0	83	2								-4.921998	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SETD6	79918	broad.mit.edu	37	16	58550529	58550529	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58550529C>A	ENST00000219315.4	+	4	674	c.624C>A	c.(622-624)cgC>cgA	p.R208R	SETD6_ENST00000394266.4_Silent_p.R139R|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Silent_p.R184R			Q8TBK2	SETD6_HUMAN	SET domain containing 6			7					TCAGGGTTCGCTCCCTAGAAC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000219315.4	1	1	hg19	CCDS54013.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	1	0	1	51	222	0	59	1	9.740045e-01	9	19	0	59	2		0	0	0	0	0	2	1	1	50	217	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SETD6	79918	broad.mit.edu	37	16	58552845	58552845	+	Missense_Mutation	SNP	C	C	T	rs36085499	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58552845C>T	ENST00000219315.4	+	8	1384	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	SETD6_ENST00000394266.4_Missense_Mutation_p.A376V|SETD6_ENST00000310682.2_Missense_Mutation_p.A421V			Q8TBK2	SETD6_HUMAN	SET domain containing 6			7					GAAGTCTATGCGAAACTCAGC	0.443000																								0							SO:0001583	missense			ENST00000219315.4	1	0	hg19	CCDS54013.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.81	2.347891	0.41599	4.55E-4	0.00314	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.28454	1.61;1.61;1.61	5.56	4.61	0.57282	Rubisco LS methyltransferase, substrate-binding domain (2);	0.343478	0.32819	N	0.005613	T	0.34658	0.0905	M	0.61703	1.905	0.09310	N	0.999998	P;P	0.51240	0.943;0.878	P;B	0.47528	0.549;0.183	T	0.18999	-1.0319	10	0.31617	T	0.26	-14.1913	9.0703	0.36488	0.1556:0.7657:0.0:0.0787	rs36085499	445;421	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	V	421;376;445	ENSP00000310082:A421V;ENSP00000377809:A376V;ENSP00000219315:A445V	ENSP00000219315:A445V	A	+	2	0	SETD6	57110346	0.000000	0.05858	0.007000	0.13788	0.250000	0.25880	0.250000	0.18235	1.334000	0.45468	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	0	0	1	57	281	0	71	1	9.996016e-01	17	43	0	71	2		0	0	0	0	0	2	1	1	56	276	0	71	2								-2.990278	1	1	121412	201	55	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT1	23019	broad.mit.edu	37	16	58581543	58581543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58581543C>T	ENST00000317147.5	-	26	3898	c.3566G>A	c.(3565-3567)cGt>cAt	p.R1189H	SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1			87					CAGCAAAGAACGATCTGAGAA	0.358000																								0							SO:0001583	missense			ENST00000317147.5	0	1	hg19	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545468	0.96488	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.19806	2.12;2.12	5.91	5.91	0.95273	.	0.048935	0.85682	D	0.000000	T	0.53400	0.1794	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;P;D	0.77004	0.989;0.664;0.94	T	0.57335	-0.7829	10	0.87932	D	0	.	18.4816	0.90813	0.0:1.0:0.0:0.0	.	1189;1189;1184	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1189;1184;1189	ENSP00000320949:R1189H;ENSP00000413113:R1189H	ENSP00000320949:R1189H	R	-	2	0	CNOT1	57139044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.804000	0.96469	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	0	0	0	8	217	0	57	1	9.059701e-01	2	114	0	57	2		0	0	0	0	0	2	1	9.883296e-01	8	210	0	57	2								-9.755252	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.440000	0.200000	1.000000	0.410000	0.484262	0.440000	0	3.100000e-01	6.400000e-01
CNOT1	23019	broad.mit.edu	37	16	58621318	58621318	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58621318C>T	ENST00000317147.5	-	5	642		c.e5-1		CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1			87					GCTTTAAACTCTGAAACAAAC	0.358000																								0							SO:0001630	splice_region_variant			ENST00000317147.5	1	1	hg19	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372153	0.82573	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6356	0.95731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNOT1	57178819	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.650000	0.89964	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	1	0	0	61	282	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	58	277	0	54	2								-2.997926	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A7	55238	broad.mit.edu	37	16	58711301	58711301	+	Silent	SNP	G	G	A	rs111704627	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58711301G>A	ENST00000570101.1	-	5	1522	c.639C>T	c.(637-639)taC>taT	p.Y213Y	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.Y213Y|SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000564010.1_Silent_p.Y124Y			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7			13					TGGCTGTGACGTACCAGGTAC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000570101.1	1	1	hg19	CCDS10800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	1	0	0	40	359	0	67	1	9.724268e-01	6	48	0	67	2		0	0	0	0	0	2	1	1	39	357	0	66	2								-3.318794	1	1	121412	15	44	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.860000	1.000000	1.000000	0.990389	0.990000	1	9.900000e-01	1
SLC38A7	55238	broad.mit.edu	37	16	58713944	58713944	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58713944G>A	ENST00000570101.1	-	2	970	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.P29P|SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000564010.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7			13					TGTCCACACAGGGACTCTGCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000570101.1	1	1	hg19	CCDS10800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	1	0	1	26	132	0	24	1	9.982287e-01	9	45	0	24	2		0	0	0	0	0	2	1	1	26	131	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999952	0.990000	1	9.900000e-01	1
CDH8	1006	broad.mit.edu	37	16	61687978	61687978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61687978C>T	ENST00000577390.1	-	12	2888	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q|CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2			112		Ovarian(137;0.0799)|Melanoma(118;0.16)			TTTATGCCGCCGTAGAGTTAC	0.383000																								0							SO:0001583	missense			ENST00000577390.1	0	1	hg19	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	37	6.035522	0.97221	.	.	ENSG00000150394	ENST00000299345	T	0.59906	0.23	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	L	0.58510	1.815	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	T	0.74864	-0.3519	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	645	P55286	CADH8_HUMAN	Q	645	ENSP00000299345:R645Q	ENSP00000299345:R645Q	R	-	2	0	CDH8	60245479	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	0	0	0	8	446	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	9.888104e-01	8	439	0	67	2								-2.974021	1	1	121412	1	37	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.220000	0.100000	1.000000	0.210000	0.267070	0.220000	0	1.500000e-01	3.200000e-01
CDH8	1006	broad.mit.edu	37	16	61761071	61761071	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61761071T>C	ENST00000577390.1	-	9	2417	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	CDH8_ENST00000577730.1_Missense_Mutation_p.D488G|CDH8_ENST00000299345.6_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2			112		Ovarian(137;0.0799)|Melanoma(118;0.16)			GTCATTGACATCCAGCACTTT	0.403000																								0							SO:0001583	missense			ENST00000577390.1	1	1	hg19	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.900754	0.92035	.	.	ENSG00000150394	ENST00000299345	T	0.02944	4.1	5.75	5.75	0.90469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	T	0.56956	-0.7893	10	0.87932	D	0	.	16.0588	0.80822	0.0:0.0:0.0:1.0	.	304;488	Q3LID3;P55286	.;CADH8_HUMAN	G	488	ENSP00000299345:D488G	ENSP00000299345:D488G	D	-	2	0	CDH8	60318572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	2.192000	0.70111	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	1	0	1	156	645	0	159	0	0	0	1	0	159	2		0	0	0	0	0	2	1	1	150	637	0	158	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH8	1006	broad.mit.edu	37	16	61891126	61891126	+	Silent	SNP	G	G	A	rs113885361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61891126G>A	ENST00000577390.1	-	4	1518	c.564C>T	c.(562-564)aaC>aaT	p.N188N	CDH8_ENST00000577730.1_Silent_p.N188N|CDH8_ENST00000299345.6_Silent_p.N188N|CDH8_ENST00000584337.1_Silent_p.N188N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2			112		Ovarian(137;0.0799)|Melanoma(118;0.16)			TCGCAGTGACGTTAGTGACAG	0.363000																								0							SO:0001819	synonymous_variant			ENST00000577390.1	1	1	hg19	CCDS10802.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	1	0	0	12	237	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.989767e-01	10	230	0	48	2								-14.140530	1	1	121382	3	38	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.590000	0.320000	1.000000	0.550000	0.618414	0.590000	0	4.400000e-01	8.000000e-01
PIGQ	9091	broad.mit.edu	37	16	624165	624165	+	Missense_Mutation	SNP	G	G	A	rs148273392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:624165G>A	ENST00000026218.5	+	2	179	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M|PIGQ_ENST00000321878.5_Missense_Mutation_p.V31M|PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q			13		Hepatocellular(780;0.00335)			GAGCAGCGCCGTGGTCCTGGC	0.701000																								0							SO:0001583	missense			ENST00000026218.5	1	1	hg19	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620397	0.66787	0.0	1.16E-4	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.58652	0.38;0.43;0.36;0.42;0.43;0.42;1.68;0.32	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.63843	1.955	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.981;0.982;0.992;0.988	T	0.77101	-0.2712	10	0.87932	D	0	-31.9028	17.6476	0.88153	0.0:0.0:1.0:0.0	.	45;31;31;31	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	M	31	ENSP00000293874:V31M;ENSP00000386760:V31M;ENSP00000386554:V31M;ENSP00000413753:V31M;ENSP00000326674:V31M;ENSP00000387820:V31M;ENSP00000026218:V31M;ENSP00000439650:V31M	ENSP00000026218:V31M	V	+	1	0	PIGQ	564166	1.000000	0.71417	0.943000	0.38184	0.593000	0.36681	6.413000	0.73308	2.409000	0.81822	0.511000	0.50034	GTG		TCGA-IB-7651-01A-11D-2154-08	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	1	0	1	58	157	0	35	1	8.375652e-01	7	4	0	35	2		0	0	0	0	0	2	1	1	58	151	0	34	2								-20.000000	1	1	121226	11	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIGQ	9091	broad.mit.edu	37	16	628425	628425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:628425C>T	ENST00000026218.5	+	5	1077	c.989C>T	c.(988-990)gCt>gTt	p.A330V	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000321878.5_Missense_Mutation_p.A330V|PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q			13		Hepatocellular(780;0.00335)			CTGATGGGTGCTCCCGCCGGG	0.677000																								0							SO:0001583	missense			ENST00000026218.5	1	1	hg19	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715057	0.15306	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.44881	0.91;0.91;2.2	5.47	3.32	0.38043	.	0.097986	0.64402	D	0.000001	T	0.16896	0.0406	N	0.02213	-0.635	0.80722	D	1	P;P;B	0.44776	0.62;0.843;0.033	B;B;B	0.40659	0.136;0.336;0.027	T	0.04203	-1.0969	10	0.14656	T	0.56	-8.6134	10.2282	0.43238	0.0:0.7882:0.0:0.2118	.	344;330;330	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	V	330	ENSP00000386760:A330V;ENSP00000326674:A330V;ENSP00000026218:A330V	ENSP00000026218:A330V	A	+	2	0	PIGQ	568426	0.983000	0.35010	0.045000	0.18777	0.349000	0.29174	2.593000	0.46180	1.337000	0.45525	-0.229000	0.12294	GCT		TCGA-IB-7651-01A-11D-2154-08	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	1	0	1	44	235	0	32	1	9.999910e-01	34	62	0	32	2		0	0	0	0	0	2	1	1	44	234	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PIGQ	9091	broad.mit.edu	37	16	633231	633231	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633231G>T	ENST00000026218.5	+	10	1968	c.1880G>T	c.(1879-1881)aGg>aTg	p.R627M	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q			13		Hepatocellular(780;0.00335)			TGGCCAGCCAGGCTGGCCGCA	0.642000																								0							SO:0001583	missense			ENST00000026218.5	1	1	hg19	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443129	0.25987	.	.	ENSG00000007541	ENST00000026218	T	0.23950	1.88	3.49	-1.56	0.08532	.	0.716622	0.12313	N	0.479982	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	D;B	0.55605	0.972;0.41	P;B	0.49047	0.599;0.146	T	0.15178	-1.0446	9	.	.	.	.	3.4154	0.07373	0.4076:0.2047:0.3877:0.0	.	197;627	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	M	627	ENSP00000026218:R627M	.	R	+	2	0	PIGQ	573232	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.537000	0.02206	-0.037000	0.13646	-0.513000	0.04457	AGG		TCGA-IB-7651-01A-11D-2154-08	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	0	0	0	42	1176	0	179	1	9.478730e-01	12	125	0	179	2		0	0	0	0	0	2	1	1	42	1162	0	175	2								-3.572200	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.430000	0.300000	1.000000	0.410000	0.522373	0.430000	0	3.600000e-01	1
PIGQ	9091	broad.mit.edu	37	16	633554	633554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633554G>A	ENST00000026218.5	+	10	2291	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q			13		Hepatocellular(780;0.00335)			GCTGACCCCCGTCCCCAGCGG	0.627000																								0							SO:0001583	missense			ENST00000026218.5	1	1	hg19	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689420	0.29962	.	.	ENSG00000007541	ENST00000026218	T	0.20881	2.04	3.3	-6.6	0.01824	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	0.09310	N	0.999999	P;B	0.47677	0.899;0.13	B;B	0.34824	0.19;0.022	T	0.28554	-1.0040	8	.	.	.	.	2.0104	0.03486	0.1858:0.2673:0.397:0.1499	.	305;735	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	I	735	ENSP00000026218:V735I	.	V	+	1	0	PIGQ	573555	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.619000	0.02048	-1.407000	0.02043	0.449000	0.29647	GTC		TCGA-IB-7651-01A-11D-2154-08	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	1	0	1	37	413	0	70	1	9.999515e-01	26	141	0	70	2		0	0	0	0	0	2	1	1	36	406	0	68	2								-20.000000	1	1	121376	2	28	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.720000	1.000000	1.000000	0.948794	0.990000	1	8.500000e-01	1
CDH11	1009	broad.mit.edu	37	16	64981786	64981786	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:64981786G>T	ENST00000268603.4	-	13	2726	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.P578H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)			88		Ovarian(137;0.0973)			CCCAGGTCTAGGCATGTACTG	0.512000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)					Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0							SO:0001583	missense			ENST00000268603.4	1	1	hg19	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215385	0.58452	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.78816	-1.21	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.197764	0.53938	D	0.000052	D	0.86772	0.6013	M	0.66939	2.045	0.53688	D	0.99997	D	0.67145	0.996	D	0.67231	0.95	T	0.83101	-0.0128	10	0.31617	T	0.26	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	704	P55287	CAD11_HUMAN	H	704;687	ENSP00000268603:P704H	ENSP00000268603:P704H	P	-	2	0	CDH11	63539287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.063000	0.76714	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	0	0	0	26	627	0	117	0	9.999974e-01	0	494	0	117	2		0	0	0	0	0	2	1	9.999999e-01	26	615	0	116	2								-4.010006	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.470000	0.310000	1.000000	0.470000	0.508135	0.470000	0	3.900000e-01	5.900000e-01
CDH11	1009	broad.mit.edu	37	16	65005935	65005935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65005935C>T	ENST00000268603.4	-	10	2038	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	CDH11_ENST00000394156.3_Missense_Mutation_p.A475T|CDH11_ENST00000566827.1_Missense_Mutation_p.A349T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)			88		Ovarian(137;0.0973)			ACCCTAATGGCCACTGGGACT	0.473000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)					Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0							SO:0001583	missense			ENST00000268603.4	1	1	hg19	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887812	0.33348	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.02682	4.2;4.2	5.91	4.95	0.65309	Cadherin (5);Cadherin-like (1);	0.325201	0.36628	N	0.002483	T	0.02380	0.0073	N	0.11673	0.155	0.42665	D	0.99349	B;B	0.23128	0.063;0.08	B;B	0.26864	0.055;0.074	T	0.58584	-0.7611	10	0.22706	T	0.39	.	15.5412	0.76048	0.139:0.8609:0.0:0.0	.	475;475	P55287-2;P55287	.;CAD11_HUMAN	T	475;475;458	ENSP00000268603:A475T;ENSP00000377711:A475T	ENSP00000268603:A475T	A	-	1	0	CDH11	63563436	0.734000	0.28142	1.000000	0.80357	0.992000	0.81027	0.589000	0.23939	1.484000	0.48361	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	1	0	1	28	197	0	58	0	1	0	509	0	58	2		0	0	0	0	0	2	1	1	28	193	0	58	2								-13.386370	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.998573	0.990000	1	9.900000e-01	1
CDH11	1009	broad.mit.edu	37	16	65038694	65038694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65038694G>A	ENST00000268603.4	-	3	694	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.R27W|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)			88		Ovarian(137;0.0973)			TGCCCCCGCCGCTCTGGGGCA	0.612000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)					Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0							SO:0001583	missense			ENST00000268603.4	1	1	hg19	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	8.868	0.948665	0.18356	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56776	0.44;0.44	5.74	2.33	0.28932	.	0.534254	0.19811	N	0.105525	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	B;P	0.41450	0.0;0.75	B;B	0.37346	0.0;0.247	T	0.18147	-1.0346	10	0.66056	D	0.02	.	7.7322	0.28793	0.0908:0.0:0.4795:0.4297	.	27;27	P55287-2;P55287	.;CAD11_HUMAN	W	27	ENSP00000268603:R27W;ENSP00000377711:R27W	ENSP00000268603:R27W	R	-	1	2	CDH11	63596195	0.503000	0.26115	0.996000	0.52242	0.546000	0.35178	0.589000	0.23939	0.692000	0.31613	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	1	0	1	14	58	0	20	0	1	0	255	0	20	2		0	0	0	0	0	2	1	9.997324e-01	12	54	0	18	2								-20.000000	1	1	121124	3	37	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999619	0.990000	1	9.900000e-01	1
CDH5	1003	broad.mit.edu	37	16	66420804	66420804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66420804C>T	ENST00000341529.3	+	3	451	c.303C>T	c.(301-303)gaC>gaT	p.D101D	CDH5_ENST00000563425.2_Silent_p.D101D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)			54		Ovarian(137;0.0955)		Lenalidomide(DB00480)	AGACAGGAGACGTGTTCGCCA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000341529.3	1	1	hg19	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.366899	0.05069	.	.	ENSG00000179776	ENST00000539262	.	.	.	5.79	-6.06	0.02165	.	.	.	.	.	T	0.70245	0.3202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77161	-0.2689	5	0.87932	D	0	.	15.9692	0.79998	0.0:0.2583:0.0:0.7417	.	.	.	.	M	23	.	ENSP00000437691:T23M	T	+	2	0	CDH5	64978305	0.094000	0.21725	0.583000	0.28640	0.378000	0.30076	-0.609000	0.05635	-1.009000	0.03400	-0.137000	0.14449	ACG		TCGA-IB-7651-01A-11D-2154-08	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	1	0	1	28	158	0	41	0	9.964817e-01	0	53	0	41	2		0	0	0	0	0	2	1	1	27	155	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999895	0.990000	1	9.900000e-01	1
CDH5	1003	broad.mit.edu	37	16	66429998	66429998	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66429998C>A	ENST00000341529.3	+	8	1402	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)			54		Ovarian(137;0.0955)		Lenalidomide(DB00480)	AGGGCCAGTTCTTCCGAGTCA	0.488000																								0							SO:0001583	missense			ENST00000341529.3	1	1	hg19	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778105	0.31502	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.69685	-0.42	4.96	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51753	0.1693	N	0.25789	0.76	0.50813	D	0.999897	B	0.17852	0.024	B	0.29077	0.098	T	0.48927	-0.8991	9	0.34782	T	0.22	.	7.1131	0.25401	0.1751:0.727:0.0:0.0979	.	418	P33151	CADH5_HUMAN	L	418;159	ENSP00000344115:F418L	ENSP00000344115:F418L	F	+	3	2	CDH5	64987499	0.905000	0.30787	0.999000	0.59377	0.590000	0.36582	0.389000	0.20751	2.590000	0.87494	0.561000	0.74099	TTC		TCGA-IB-7651-01A-11D-2154-08	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	1	0	1	71	269	0	73	0	9.999841e-01	0	63	0	73	2		0	0	0	0	0	2	1	1	70	265	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH5	1003	broad.mit.edu	37	16	66431887	66431887	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66431887A>G	ENST00000341529.3	+	9	1511	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)			54		Ovarian(137;0.0955)		Lenalidomide(DB00480)	CCCTGCAGGAACCCCCACAGG	0.542000																								0							SO:0001583	missense			ENST00000341529.3	1	1	hg19	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	5.119	0.207528	0.09704	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.49720	0.77	4.4	0.705	0.18127	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20170	0.0485	N	0.08118	0	0.22389	N	0.999149	B	0.11235	0.004	B	0.17979	0.02	T	0.21314	-1.0249	9	0.15066	T	0.55	.	0.9773	0.01428	0.3435:0.2616:0.0919:0.303	.	455	P33151	CADH5_HUMAN	A	455;196	ENSP00000344115:T455A	ENSP00000344115:T455A	T	+	1	0	CDH5	64989388	0.001000	0.12720	0.013000	0.15412	0.396000	0.30629	1.223000	0.32527	-0.077000	0.12752	0.459000	0.35465	ACC		TCGA-IB-7651-01A-11D-2154-08	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	1	0	1	79	437	0	123	0	9.984084e-01	0	55	0	123	2		0	0	0	0	0	2	1	1	78	434	0	121	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH5	1003	broad.mit.edu	37	16	66436913	66436913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66436913C>T	ENST00000341529.3	+	12	2344	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	CDH5_ENST00000539168.1_Silent_p.G171G	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)			54		Ovarian(137;0.0955)		Lenalidomide(DB00480)	ACATCTACGGCTACGAGGGCT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000341529.3	1	1	hg19	CCDS10804.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	1	0	1	28	101	0	24	0	9.999258e-01	0	59	0	24	2		0	0	0	0	0	2	1	1	28	101	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DYNC1LI2	1783	broad.mit.edu	37	16	66785491	66785491	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66785491C>A	ENST00000258198.2	-	1	210	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.A2S|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2			15		Ovarian(137;0.0563)			CCCACCGGCGCCATCTTGCCA	0.756000																								0							SO:0001583	missense			ENST00000258198.2	1	1	hg19	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576714	0.86645	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	T;T;T;T	0.50277	2.17;0.77;0.75;1.16	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	N	0.08118	0	0.49213	D	0.999766	B;B;P;D	0.63880	0.037;0.001;0.953;0.993	B;B;D;D	0.70227	0.017;0.001;0.935;0.968	T	0.38972	-0.9636	10	0.18276	T	0.48	-9.9804	14.7925	0.69854	0.0:1.0:0.0:0.0	.	2;2;2;2	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	S	2	ENSP00000258198:A2S;ENSP00000368795:A2S;ENSP00000394289:A2S;ENSP00000408566:A2S	ENSP00000258198:A2S	A	-	1	0	DYNC1LI2	65342992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.106000	0.50322	1.985000	0.57927	0.557000	0.71058	GCG		TCGA-IB-7651-01A-11D-2154-08	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	1	0	0	51	208	0	32	1	9.969967e-01	11	27	0	32	2		0	0	0	0	0	2	1	1	47	201	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RRAD	6236	broad.mit.edu	37	16	66956090	66956090	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66956090C>A	ENST00000299759.6	-	5	1066	c.816G>T	c.(814-816)gaG>gaT	p.E272D	RRAD_ENST00000420652.1_Missense_Mutation_p.E272D			P55042	RAD_HUMAN	Ras-related associated with diabetes			17		Ovarian(137;0.192)			TGCCAAGGCTCTCTCGCCTCC	0.607000																								0							SO:0001583	missense			ENST00000299759.6	1	1	hg19	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241458	0.79912	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.68181	-0.31;-0.31	5.93	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.77103	2.36	0.51482	D	0.999929	D	0.58970	0.984	D	0.66979	0.948	T	0.75233	-0.3390	10	0.42905	T	0.14	.	8.2417	0.31665	0.0:0.5943:0.0:0.4057	.	272	P55042	RAD_HUMAN	D	272	ENSP00000388744:E272D;ENSP00000299759:E272D	ENSP00000299759:E272D	E	-	3	2	RRAD	65513591	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.302000	0.43637	0.838000	0.34948	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	1	0	1	31	336	0	69	1	9.995717e-01	22	108	0	69	2		0	0	0	0	0	2	1	1	30	331	0	68	2								-3.221884	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.700000	1.000000	1.000000	0.941172	0.990000	1	8.400000e-01	1
CES3	23491	broad.mit.edu	37	16	67006262	67006262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006262C>T	ENST00000303334.4	+	11	1366	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	CES3_ENST00000543856.1_Missense_Mutation_p.S71F|CES3_ENST00000394037.1_Missense_Mutation_p.S432F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3			24		Ovarian(137;0.0563)			TCTGTAGATTCTGGAAGCCCT	0.498000																								0							SO:0001583	missense			ENST00000303334.4	1	1	hg19	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743562	0.69418	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.09911	2.93;2.93;2.93	5.13	3.15	0.36227	Carboxylesterase, type B (1);	0.442058	0.16934	N	0.193544	T	0.11110	0.0271	L	0.43554	1.36	0.25662	N	0.986	B;B	0.15719	0.003;0.014	B;B	0.22152	0.026;0.038	T	0.20438	-1.0275	10	0.87932	D	0	.	9.6111	0.39663	0.0:0.7787:0.1426:0.0787	.	71;432	F5H242;Q6UWW8	.;EST3_HUMAN	F	432;432;71	ENSP00000304782:S432F;ENSP00000377602:S432F;ENSP00000445559:S71F	ENSP00000304782:S432F	S	+	2	0	CES3	65563763	0.931000	0.31567	0.010000	0.14722	0.051000	0.14879	2.671000	0.46842	0.554000	0.29061	-0.304000	0.09214	TCT		TCGA-IB-7651-01A-11D-2154-08	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	1	0	1	368	1729	0	500	0	6.489127e-01	1	11	0	500	2		0	0	0	0	0	2	1	1	367	1693	1	496	16								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CES3	23491	broad.mit.edu	37	16	67006910	67006910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006910G>A	ENST00000303334.4	+	13	1745	c.1674G>A	c.(1672-1674)tgG>tgA	p.W558*	CES3_ENST00000543856.1_Nonsense_Mutation_p.W197*|CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3			24		Ovarian(137;0.0563)			TACAACAGTGGCACCAGAAGC	0.577000																								0							SO:0001587	stop_gained			ENST00000303334.4	0	1	hg19	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196124	0.78902	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	.	.	.	3.54	2.58	0.30949	.	0.538057	0.14257	N	0.331073	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.5445	0.33413	0.1187:0.0:0.8813:0.0	.	.	.	.	X	558;555;197	.	ENSP00000304782:W558X	W	+	3	0	CES3	65564411	0.025000	0.19082	0.280000	0.24747	0.027000	0.11550	0.550000	0.23345	1.995000	0.58328	0.579000	0.79373	TGG		TCGA-IB-7651-01A-11D-2154-08	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	1	0	1	35	307	0	79	1	3.995196e-01	6	7	0	79	2		0	0	0	0	0	2	1	1	35	302	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.860000	1.000000	1.000000	0.990708	0.990000	1	9.900000e-01	1
C16orf70	80262	broad.mit.edu	37	16	67154021	67154021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67154021C>T	ENST00000219139.3	+	2	259	c.71C>T	c.(70-72)cCt>cTt	p.P24L	C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70			17		Ovarian(137;0.192)			TCAGGAATGCCTCTGGCTCAG	0.458000																								0							SO:0001583	missense			ENST00000219139.3	1	1	hg19	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162170	0.57368	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.81497	2.545	0.80722	D	1	P;B	0.46220	0.874;0.339	B;B	0.43508	0.422;0.306	T	0.73678	-0.3907	9	0.54805	T	0.06	-23.057	17.8263	0.88666	0.0:1.0:0.0:0.0	.	2;24	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	L	24	.	ENSP00000219139:P24L	P	+	2	0	C16orf70	65711522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.971000	0.76105	2.805000	0.96524	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	1	0	1	79	403	0	97	1	9.699456e-01	9	22	0	97	2		0	0	0	0	0	2	1	1	79	398	0	96	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf70	80262	broad.mit.edu	37	16	67168323	67168323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67168323G>A	ENST00000219139.3	+	8	802	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70			17		Ovarian(137;0.192)			GATGTTCTTCGAGATGGAACT	0.512000																								0							SO:0001583	missense			ENST00000219139.3	1	1	hg19	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444686	0.63178	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.71036	2.16	0.58432	D	0.999999	P	0.50819	0.939	P	0.47891	0.56	T	0.65191	-0.6228	9	0.24483	T	0.36	-3.9249	19.0219	0.92919	0.0:0.0:1.0:0.0	.	205	Q9BSU1	CP070_HUMAN	Q	205	.	ENSP00000219139:R205Q	R	+	2	0	C16orf70	65725824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.835000	0.97688	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	1	0	1	277	1175	0	256	1	9.998237e-01	18	36	0	256	2		0	0	0	0	0	2	1	1	275	1155	0	253	2								-20.000000	1	1	121412	1	36	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRADD	8717	broad.mit.edu	37	16	67190432	67190432	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67190432A>G	ENST00000345057.4	-	2	600	c.132T>C	c.(130-132)gcT>gcC	p.A44A	TRADD_ENST00000566104.1_5'UTR|TRADD_ENST00000486556.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain			11		Ovarian(137;0.0563)			CAGCCTGCAGAGCCCTGTACA	0.627000											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000345057.4	1	1	hg19	CCDS10829.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2	1	0	1	84	400	0	105	1	1	70	121	0	105	2		0	0	0	0	0	2	1	1	78	388	0	103	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSF4	3299	broad.mit.edu	37	16	67199722	67199722	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67199722G>A	ENST00000521374.1	+	3	333	c.333G>A	c.(331-333)gaG>gaA	p.E111E	HSF4_ENST00000584272.1_Silent_p.E111E|HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000264009.8_Silent_p.E111E			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4			12		Ovarian(137;0.0563)			GCGGCCGCGAGCAGCTACTGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000521374.1	1	1	hg19	CCDS42175.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	1	0	0	24	134	0	32	1	2.523292e-02	2	0	0	32	2		0	0	0	0	0	2	1	9.999998e-01	24	132	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999786	0.990000	1	9.900000e-01	1
KIAA0895L	653319	broad.mit.edu	37	16	67214084	67214084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214084G>A	ENST00000290881.7	-	3	1356	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W			Q68EN5	K895L_HUMAN	KIAA0895-like			17					TTGGTTGGCCGCAGGGCCACC	0.587000																								0							SO:0001583	missense			ENST00000290881.7	1	1	hg19	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581171	0.65992	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.58101	1.795	0.48288	D	0.99962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72551	-0.4259	9	0.87932	D	0	-22.2723	11.5454	0.50690	0.0:0.0:0.6661:0.3339	.	144;144	Q68EN5-2;Q68EN5	.;K895L_HUMAN	W	144	.	ENSP00000290881:R144W	R	-	1	2	KIAA0895L	65771585	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	0.174000	0.16743	1.245000	0.43885	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	1	0	0	32	391	0	87	0	4.092846e-01	1	17	0	87	2		0	0	0	0	0	2	1	1	33	389	0	86	2								-2.806909	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.900000	0.630000	1.000000	1.000000	0.886821	0.900000	1	7.500000e-01	1
KIAA0895L	653319	broad.mit.edu	37	16	67214520	67214520	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214520C>A	ENST00000290881.7	-	0	920				KIAA0895L_ENST00000563902.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_De_novo_Start_OutOfFrame			Q68EN5	K895L_HUMAN	KIAA0895-like			17					CCATTCTGTCCTGGGGGTCAC	0.627000																								0											ENST00000290881.7	0	1	hg19	CCDS42177.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	0	0	0	42	140	0	22	1	9.813952e-01	10	14	0	22	2		0	0	0	0	0	2	1	1	42	137	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
E2F4	1874	broad.mit.edu	37	16	67228615	67228615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67228615G>T	ENST00000379378.3	+	6	599	c.540G>T	c.(538-540)caG>caT	p.Q180H	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding			11		Ovarian(137;0.0563)			AGAAGTACCAGATTCACCTGA	0.562000																								0							SO:0001583	missense			ENST00000379378.3	1	1	hg19	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494055	0.44352	.	.	ENSG00000205250	ENST00000379378	D	0.87029	-2.2	5.72	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.85859	2.78	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.94264	0.7505	10	0.87932	D	0	-16.4072	13.4026	0.60891	0.0762:0.0:0.9238:0.0	.	180	Q16254	E2F4_HUMAN	H	180	ENSP00000368686:Q180H	ENSP00000368686:Q180H	Q	+	3	2	E2F4	65786116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.547000	0.53663	1.424000	0.47217	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	1	0	1	67	300	0	64	1	1	31	143	0	64	2		0	0	0	0	0	2	1	1	65	293	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
E2F4	1874	broad.mit.edu	37	16	67229753	67229753	+	Missense_Mutation	SNP	A	A	T	rs1801013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229753A>T	ENST00000379378.3	+	7	936	c.877A>T	c.(877-879)Aca>Tca	p.T293S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding			11		Ovarian(137;0.0563)			GGGCCCAACAACACTGGACAC	0.587000																								0							SO:0001583	missense			ENST00000379378.3	1	1	hg19	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	A	4.392	0.072297	0.08436	.	.	ENSG00000205250	ENST00000379378	D	0.83914	-1.78	4.64	1.54	0.23209	.	0.534717	0.13958	N	0.351005	T	0.47135	0.1429	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48647	-0.9017	10	0.05721	T	0.95	-0.1102	4.5922	0.12313	0.25:0.0:0.5966:0.1534	.	293	Q16254	E2F4_HUMAN	S	293	ENSP00000368686:T293S	ENSP00000368686:T293S	T	+	1	0	E2F4	65787254	0.005000	0.15991	0.091000	0.20842	0.420000	0.31355	1.045000	0.30341	0.182000	0.20032	-0.146000	0.13790	ACA		TCGA-IB-7651-01A-11D-2154-08	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	1	0	1	53	321	0	62	1	1	47	166	0	62	2		0	0	0	0	0	2	1	1	51	316	0	61	2								-20.000000	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
E2F4	1874	broad.mit.edu	37	16	67229844	67229844	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229844G>T	ENST00000379378.3	+	7	1027	c.968G>T	c.(967-969)aGc>aTc	p.S323I		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding			11		Ovarian(137;0.0563)			aacagtaacagcagcagTTCG	0.622000																								0							SO:0001583	missense			ENST00000379378.3	1	1	hg19	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374558	0.11409	.	.	ENSG00000205250	ENST00000379378	D	0.82984	-1.67	3.78	-2.63	0.06133	.	1.239140	0.05425	N	0.544915	T	0.67449	0.2894	N	0.22421	0.69	0.09310	N	0.999998	B	0.12013	0.005	B	0.12156	0.007	T	0.48317	-0.9046	10	0.18710	T	0.47	0.0374	4.3173	0.11000	0.4512:0.3471:0.2017:0.0	.	323	Q16254	E2F4_HUMAN	I	323	ENSP00000368686:S323I	ENSP00000368686:S323I	S	+	2	0	E2F4	65787345	0.006000	0.16342	0.228000	0.23943	0.012000	0.07955	-0.660000	0.05317	-0.452000	0.07087	-0.140000	0.14226	AGC		TCGA-IB-7651-01A-11D-2154-08	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	1	0	1	114	483	0	116	1	1	35	118	0	116	2		0	0	0	0	0	2	1	1	111	468	0	107	2								-20.000000	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELMO3	79767	broad.mit.edu	37	16	67237764	67237764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67237764G>A	ENST00000360833.1	+	19	2312	c.2255G>A	c.(2254-2256)aGc>aAc	p.S752N	MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N|ELMO3_ENST00000393997.2_Missense_Mutation_p.S769N			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3			18		Ovarian(137;0.0563)			TATGACTGCAGCATCGCTGAA	0.642000																								0							SO:0001583	missense			ENST00000360833.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.596	0.885780	0.17540	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.14766	2.48;2.48	5.32	4.34	0.51931	.	0.124832	0.64402	D	0.000001	T	0.13243	0.0321	L	0.39020	1.185	0.49582	D	0.999802	B;P;P	0.39480	0.181;0.675;0.493	B;B;B	0.41988	0.033;0.372;0.234	T	0.10154	-1.0642	10	0.18710	T	0.47	-11.2324	13.1906	0.59709	0.0:0.3065:0.6935:0.0	.	716;752;769	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	752;769	ENSP00000354077:S752N;ENSP00000377566:S769N	ENSP00000354077:S752N	S	+	2	0	ELMO3	65795265	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.302000	0.51849	1.221000	0.43506	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	1	0	1	27	96	0	13	1	9.999982e-01	40	44	0	13	2		0	0	0	0	0	2	1	1	26	94	0	13	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLC9A5	6553	broad.mit.edu	37	16	67289057	67289057	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67289057C>T	ENST00000299798.11	+	3	689	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5			27		Ovarian(137;0.0563)			TCGTCTTTGGCGAGTCCCTGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000299798.11	1	1	hg19	CCDS42178.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1	0	0	1	96	425	1	101	0	0	0	1	1	101	2		0	0	0	0	0	2	1	1	93	415	1	101	17								-3.111656	1	1	121298	1	34	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC9A5	6553	broad.mit.edu	37	16	67292264	67292264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67292264C>T	ENST00000299798.11	+	10	1605	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5			27		Ovarian(137;0.0563)			GCTGCTGATGCGACGATCAGC	0.592000																								0							SO:0001587	stop_gained			ENST00000299798.11	0	1	hg19	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	c	36	5.912023	0.97099	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	.	.	.	5.24	4.28	0.50868	.	0.105727	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.837	0.57780	0.4038:0.5962:0.0:0.0	.	.	.	.	X	514;2	.	ENSP00000299798:R514X	R	+	1	2	SLC9A5	65849765	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.943000	0.29030	1.445000	0.47624	0.556000	0.70494	CGA		TCGA-IB-7651-01A-11D-2154-08	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1	1	0	1	53	225	0	60	1	4.736883e-01	3	5	0	60	2		0	0	0	0	0	2	1	1	52	222	0	60	2								-3.121771	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD19	146212	broad.mit.edu	37	16	67333397	67333397	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67333397C>T	ENST00000304372.5	-	6	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19			23		Ovarian(137;0.192)			TTGTGTAGAGCGGTTTCACGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000304372.5	1	1	hg19	CCDS42179.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	1	0	1	121	677	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1	120	669	0	130	2								-20.000000	1	1	120886	2	36	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD19	146212	broad.mit.edu	37	16	67360624	67360624	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67360624G>T	ENST00000304372.5	-	0	42				LRRC36_ENST00000329956.6_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19			23		Ovarian(137;0.192)			CGCGGCTCCAGCAGCGGGCGG	0.756000											OREG0023877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0											ENST00000304372.5	0	1	hg19	CCDS42179.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	0	0	0	5	118	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.361555e-01	5	116	0	9	2								-8.331943	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.520000	0.200000	1.000000	1.000000	0.563176	0.520000	0	3.300000e-01	8.100000e-01
TPPP3	51673	broad.mit.edu	37	16	67424128	67424128	+	Silent	SNP	G	G	A	rs150292483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67424128G>A	ENST00000564104.1	-	3	1321	c.480C>T	c.(478-480)taC>taT	p.Y160Y	TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y|TPPP3_ENST00000393957.2_Silent_p.Y160Y|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3			7		Ovarian(137;0.0563)			AGGCGCTCACGTAGCCACTGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000564104.1	1	1	hg19	CCDS10835.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	1	0	0	39	359	0	77	1	1	32	224	0	77	2		0	0	0	0	0	2	1	1	39	353	0	75	2								-2.188460	0	1	121412	4	36	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.840000	1.000000	1.000000	0.986999	0.990000	1	9.900000e-01	1
ZDHHC1	29800	broad.mit.edu	37	16	67429051	67429051	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67429051A>C	ENST00000348579.2	-	10	1425	c.1084T>G	c.(1084-1086)Tgg>Ggg	p.W362G	TPPP3_ENST00000562206.1_5'Flank|ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000393957.2_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1			10		Ovarian(137;0.223)			TTTCTATCCCACTCCACCTGG	0.637000																								0							SO:0001583	missense			ENST00000348579.2	1	1	hg19	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	A	8.028	0.761202	0.15914	.	.	ENSG00000159714	ENST00000348579	T	0.36340	1.26	3.72	0.533	0.17121	.	16.041100	0.00166	N	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09640	-1.0665	10	0.20519	T	0.43	.	3.3198	0.07047	0.2081:0.5612:0.0:0.2307	.	362	Q8WTX9	ZDHC1_HUMAN	G	362	ENSP00000340299:W362G	ENSP00000340299:W362G	W	-	1	0	ZDHHC1	65986552	0.000000	0.05858	0.048000	0.18961	0.081000	0.17604	-0.240000	0.08952	0.050000	0.15949	-0.302000	0.09304	TGG		TCGA-IB-7651-01A-11D-2154-08	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	1	0	0	22	123	0	26	1	8.769030e-01	2	21	0	26	2		0	0	0	0	0	2	1	9.999993e-01	22	123	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999665	0.990000	1	9.900000e-01	1
ZDHHC1	29800	broad.mit.edu	37	16	67432548	67432548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432548C>T	ENST00000348579.2	-	7	1083	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1			10		Ovarian(137;0.223)			ATGAGCAGGGCGGCCAGGGCC	0.632000																								0							SO:0001583	missense			ENST00000348579.2	0	1	hg19	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822471	0.90873	.	.	ENSG00000159714	ENST00000348579	T	0.25085	1.82	5.41	4.46	0.54185	.	0.417736	0.24318	N	0.039579	T	0.36496	0.0969	L	0.49455	1.56	0.29527	N	0.853069	D	0.69078	0.997	P	0.57468	0.821	T	0.19943	-1.0290	10	0.22109	T	0.4	.	13.0988	0.59208	0.0:0.9224:0.0:0.0776	.	248	Q8WTX9	ZDHC1_HUMAN	T	248	ENSP00000340299:A248T	ENSP00000340299:A248T	A	-	1	0	ZDHHC1	65990049	1.000000	0.71417	0.117000	0.21633	0.936000	0.57629	4.549000	0.60726	1.279000	0.44446	0.498000	0.49722	GCC		TCGA-IB-7651-01A-11D-2154-08	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	1	0	1	21	76	0	10	0	9.999878e-01	0	76	0	10	2		0	0	0	0	0	2	1	9.999989e-01	21	75	0	10	2								-20.000000	1	1	121196	2	28	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
ZDHHC1	29800	broad.mit.edu	37	16	67432784	67432784	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432784T>C	ENST00000348579.2	-	6	935	c.594A>G	c.(592-594)acA>acG	p.T198T	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1			10		Ovarian(137;0.223)			CGAAGACATATGTGGCCACCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000348579.2	1	1	hg19	CCDS10836.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	1	0	1	14	102	0	26	1	9.803226e-01	15	36	0	26	2		0	0	0	0	0	2	1	9.997941e-01	14	100	0	26	2								-19.997530	1	1	121376	1	22	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.830000	1.000000	1.000000	0.989483	0.990000	1	9.900000e-01	1
ATP6V0D1	9114	broad.mit.edu	37	16	67472759	67472759	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67472759G>A	ENST00000290949.3	-	7	981	c.831C>T	c.(829-831)ctC>ctT	p.L277L	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000602876.1_Silent_p.L200L	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1			8		Ovarian(137;0.0563)			CACCCTCGAAGAGCAGCTTGT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000290949.3	1	0	hg19	CCDS10838.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	0	0	1	155	671	0	182	1	1	104	413	0	182	2		0	0	0	0	0	2	1	1	154	659	0	180	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM65A	79567	broad.mit.edu	37	16	67574550	67574550	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67574550G>A	ENST00000379312.3	+	10	877	c.756G>A	c.(754-756)gtG>gtA	p.V252V	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000566522.1_3'UTR|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Silent_p.V248V|FAM65A_ENST00000422602.2_Silent_p.V268V|FAM65A_ENST00000540839.3_Silent_p.V268V|FAM65A_ENST00000428437.2_Silent_p.V262V	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A			39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			GAAAGCAGGTGTGGGACAGTG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000379312.3	1	1	hg19	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410593	0.25465	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.42	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74405	-0.3676	6	0.51188	T	0.08	-9.3239	14.4179	0.67163	0.0:0.0:0.732:0.268	.	.	.	.	M	243	.	ENSP00000389456:V243M	V	+	1	0	FAM65A	66132051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.390000	0.66261	1.253000	0.44018	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1	120	572	0	151	0	1	0	136	0	151	2		0	0	0	0	0	2	1	1	118	557	0	151	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM65A	79567	broad.mit.edu	37	16	67578324	67578324	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578324G>A	ENST00000379312.3	+	15	2856	c.2735G>A	c.(2734-2736)cGc>cAc	p.R912H	CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000540839.3_Missense_Mutation_p.R927H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	p.R908H(1)		39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			CACTGCAGTCGCCTCCTGCTG	0.627000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000379312.3	1	1	hg19	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654243	0.29425	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.76448	-1.02;-1.02;-1.02	5.55	0.947	0.19555	.	0.690542	0.14688	N	0.304307	T	0.53706	0.1813	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.19445	0.015;0.036;0.005	B;B;B	0.04013	0.001;0.001;0.001	T	0.37314	-0.9711	10	0.23891	T	0.37	-0.573	11.6031	0.51015	0.3702:0.0:0.6298:0.0	.	922;928;912	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	H	912;908;928;922	ENSP00000368614:R912H;ENSP00000042381:R908H;ENSP00000400099:R928H	ENSP00000042381:R908H	R	+	2	0	FAM65A	66135825	0.000000	0.05858	0.979000	0.43373	0.997000	0.91878	-0.053000	0.11846	0.321000	0.23259	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1	130	561	0	123	1	1	2	116	0	123	2		0	0	0	0	0	2	1	1	128	552	0	121	2								-20.000000	1	1	121406	7	40	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM65A	79567	broad.mit.edu	37	16	67578667	67578667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578667C>T	ENST00000379312.3	+	16	2936	c.2815C>T	c.(2815-2817)Cga>Tga	p.R939*	CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.R954*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A			39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			GCGGGAAGCCCGAGTACTGGA	0.652000																								0							SO:0001587	stop_gained			ENST00000379312.3	0	1	hg19	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.616036|7.616036	0.98390|0.98390	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|.	.|.	.|.	5.65|5.65	3.66|3.66	0.41972|0.41972	.|.	.|0.283027	.|0.34245	.|N	.|0.004121	T|.	0.35393|.	0.0930|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33369|.	-0.9871|.	3|.	.|0.02654	.|T	.|1	-1.3622|-1.3622	14.7684|14.7684	0.69657|0.69657	0.2766:0.7234:0.0:0.0|0.2766:0.7234:0.0:0.0	.|.	.|.	.|.	.|.	L|X	928|939;935;955;949	.|.	.|ENSP00000042381:R935X	P|R	+|+	2|1	0|2	FAM65A|FAM65A	66136168|66136168	0.995000|0.995000	0.38212|0.38212	0.652000|0.652000	0.29579|0.29579	0.910000|0.910000	0.53928|0.53928	4.112000|4.112000	0.57845|0.57845	0.700000|0.700000	0.31782|0.31782	0.655000|0.655000	0.94253|0.94253	CCG|CGA		TCGA-IB-7651-01A-11D-2154-08	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1	128	519	0	90	1	1	3	124	0	90	2		0	0	0	0	0	2	1	1	125	509	0	86	2								-2.846722	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM65A	79567	broad.mit.edu	37	16	67579738	67579738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67579738C>T	ENST00000379312.3	+	19	3495	c.3374C>T	c.(3373-3375)tCa>tTa	p.S1125L	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000540839.3_Missense_Mutation_p.S1140L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A			39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			CGGAGCCTGTCACTGGGCCCT	0.662000																								0							SO:0001583	missense			ENST00000379312.3	1	1	hg19	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507564	0.85282	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.78003	-1.14;-1.14;-1.14	5.58	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.518270	0.19794	N	0.105918	D	0.83464	0.5260	L	0.42245	1.32	0.33306	D	0.565508	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.68039	0.955;0.955;0.955	D	0.88327	0.2966	10	0.87932	D	0	-5.5324	15.6803	0.77364	0.138:0.862:0.0:0.0	.	1135;1141;1125	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	L	1125;1121;1141;1135	ENSP00000368614:S1125L;ENSP00000042381:S1121L;ENSP00000400099:S1141L	ENSP00000042381:S1121L	S	+	2	0	FAM65A	66137239	0.913000	0.31002	1.000000	0.80357	0.940000	0.58332	2.813000	0.48002	1.319000	0.45190	0.655000	0.94253	TCA		TCGA-IB-7651-01A-11D-2154-08	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	1	0	1	38	360	0	74	1	9.999714e-01	17	132	0	74	2		0	0	0	0	0	2	1	1	38	359	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.820000	1.000000	1.000000	0.982209	0.990000	1	9.600000e-01	1
RAB40C	57799	broad.mit.edu	37	16	676048	676048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:676048C>T	ENST00000248139.3	+	5	695	c.492C>T	c.(490-492)atC>atT	p.I164I	RAB40C_ENST00000538492.1_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I|RAB40C_ENST00000535977.1_Silent_p.I164I	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family			6		Hepatocellular(780;0.0218)			TCAACGTCATCGAGTCCTTCA	0.642000													Melanoma(123;1631 1690 28262 44104 44957)											0							SO:0001819	synonymous_variant			ENST00000248139.3	1	1	hg19	CCDS10413.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	1	0	1	102	431	0	109	1	9.999999e-01	32	70	0	109	2		0	0	0	0	0	2	1	1	101	425	1	109	17								-20.000000	1	1	121408	1	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTCF	10664	broad.mit.edu	37	16	67645871	67645871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67645871C>T	ENST00000264010.4	+	4	1243	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	CTCF_ENST00000401394.1_Intron|AC009095.4_ENST00000388909.4_RNA	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)			79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			GAAGACATTCCAGTGTGAGCT	0.388000													Colon(175;1200 1966 6945 23069 27405)											0							SO:0001587	stop_gained			ENST00000264010.4	0	1	hg19	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	38	6.867881	0.97897	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	18.8894	0.92392	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000264010:Q267X	Q	+	1	0	CTCF	66203372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	1	0	0	37	413	0	96	0	9.999168e-01	1	157	0	96	2		0	0	0	0	0	2	1	1	34	405	0	95	2								-2.690405	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.980000	0.700000	1.000000	1.000000	0.933718	0.980000	1	8.300000e-01	1
CTCF	10664	broad.mit.edu	37	16	67662366	67662366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67662366C>A	ENST00000264010.4	+	9	2056	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)			79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			GAAGCAGCTTCTCGACATGCA	0.547000													Colon(175;1200 1966 6945 23069 27405)											0							SO:0001583	missense			ENST00000264010.4	1	1	hg19	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306403	0.95629	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.68624	-0.34;-0.34	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	D	0.85805	0.5782	M	0.91561	3.22	0.80722	D	1	D;D	0.64830	0.994;0.993	P;D	0.67548	0.888;0.952	D	0.88196	0.2880	10	0.72032	D	0.01	-2.4016	19.488	0.95037	0.0:1.0:0.0:0.0	.	210;538	B5MC38;P49711	.;CTCF_HUMAN	I	538;210	ENSP00000264010:L538I;ENSP00000384707:L210I	ENSP00000264010:L538I	L	+	1	0	CTCF	66219867	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.029000	0.70895	2.702000	0.92279	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	1	0	1	136	529	0	108	1	1	39	144	0	108	2		0	0	0	0	0	2	1	1	131	520	0	108	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RLTPR	146206	broad.mit.edu	37	16	67680837	67680837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67680837G>A	ENST00000334583.6	+	8	900	c.572G>A	c.(571-573)cGc>cAc	p.R191H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing			18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)			CAGGGCTGCCGCCATTTCAGC	0.637000																								0							SO:0001583	missense			ENST00000334583.6	1	1	hg19	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531042	0.85706	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.55413	0.52;0.52	4.53	4.53	0.55603	.	0.059925	0.64402	D	0.000003	T	0.69151	0.3079	M	0.63843	1.955	0.44432	D	0.99735	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.70346	-0.4897	10	0.51188	T	0.08	-21.1664	15.5787	0.76414	0.0:0.0:1.0:0.0	.	191;191	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	191	ENSP00000334958:R191H;ENSP00000441481:R191H	ENSP00000334958:R191H	R	+	2	0	RLTPR	66238338	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.794000	0.62482	2.516000	0.84829	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	1	0	1	29	142	0	32	0	3.488208e-01	0	7	0	32	2		0	0	0	0	0	2	1	1	29	141	0	32	2								-3.305793	1	1	120960	2	28	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
C16orf86	388284	broad.mit.edu	37	16	67702121	67702121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67702121G>A	ENST00000403458.4	+	4	727	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86			6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			CAGCGCCTGCGGCCGCTGTAC	0.662000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000403458.4	1	1	hg19	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	G	34	5.328238	0.95733	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.64394	0.2594	L	0.29908	0.895	0.32848	D	0.506291	D	0.89917	1.0	D	0.91635	0.999	T	0.70637	-0.4817	8	0.87932	D	0	-14.3871	18.1519	0.89677	0.0:0.0:1.0:0.0	.	191	Q6ZW13	CP086_HUMAN	Q	191	.	ENSP00000384117:R191Q	R	+	2	0	C16orf86	66259622	0.982000	0.34865	0.998000	0.56505	0.953000	0.61014	4.142000	0.58044	2.826000	0.97356	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	1	0	1	17	67	0	14	1	9.061105e-01	4	15	0	14	2		0	0	0	0	0	2	1	9.999785e-01	15	67	0	13	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999906	0.990000	1	9.900000e-01	1
RAB40C	57799	broad.mit.edu	37	16	677435	677435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:677435G>A	ENST00000248139.3	+	6	862	c.659G>A	c.(658-660)aGc>aAc	p.S220N	RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N|RAB40C_ENST00000535977.1_Missense_Mutation_p.S220N	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family			6		Hepatocellular(780;0.0218)			ACCATCAAGAGCCACCTCAAG	0.657000													Melanoma(123;1631 1690 28262 44104 44957)											0							SO:0001583	missense			ENST00000248139.3	1	1	hg19	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145907	0.94603	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.17	4.21	0.49690	SOCS protein, C-terminal (4);	0.264812	0.41823	N	0.000801	T	0.57621	0.2066	M	0.62723	1.935	0.58432	D	0.999996	D;D	0.57571	0.98;0.98	P;P	0.62740	0.906;0.906	T	0.61227	-0.7105	10	0.87932	D	0	.	12.3215	0.54987	0.0817:0.0:0.9183:0.0	.	220;201	Q96S21;Q5PXE8	RB40C_HUMAN;.	N	220	ENSP00000438492:S220N;ENSP00000445050:S220N;ENSP00000438382:S220N;ENSP00000248139:S220N	ENSP00000248139:S220N	S	+	2	0	RAB40C	617436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	1.169000	0.42739	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	1	0	1	123	651	0	189	1	9.999974e-01	32	64	0	189	2		0	0	0	0	0	2	1	1	121	639	0	188	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CENPT	80152	broad.mit.edu	37	16	67865777	67865777	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67865777G>T	ENST00000562787.1	-	8	951	c.403C>A	c.(403-405)Cct>Act	p.P135T	CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000445712.2_Missense_Mutation_p.P32T	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T			10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)			TCGAGCTCAGGAAGTTGCAGC	0.567000																								0							SO:0001583	missense			ENST00000562787.1	1	1	hg19	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376729	0.82682	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	D;D;D	0.81659	-1.52;-1.52;-1.52	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	D	0.89431	0.6713	M	0.74881	2.28	0.42055	D	0.991135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89459	0.3735	10	0.62326	D	0.03	-20.6962	16.3795	0.83443	0.0:0.0:1.0:0.0	.	32;135;135	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	T	135;135;32	ENSP00000400140:P135T;ENSP00000219172:P135T;ENSP00000411594:P32T	ENSP00000219172:P135T	P	-	1	0	CENPT	66423278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.489000	0.60309	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	0	0	1	28	91	0	13	1	9.999989e-01	29	51	0	13	2		0	0	0	0	0	2	1	1	27	89	0	12	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EDC4	23644	broad.mit.edu	37	16	67914671	67914671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67914671C>T	ENST00000358933.5	+	18	2548	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4			41		Ovarian(137;0.0563)			GACAGTATGGCTTCAGCCGCC	0.667000																								0							SO:0001583	missense			ENST00000358933.5	1	1	hg19	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238363	0.95240	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.100889	0.64402	D	0.000002	T	0.49423	0.1556	L	0.29908	0.895	0.48395	D	0.999648	D	0.56968	0.978	P	0.50825	0.651	T	0.36744	-0.9735	9	0.25751	T	0.34	-15.198	14.5219	0.67856	0.0:0.8534:0.1466:0.0	.	770	Q6P2E9	EDC4_HUMAN	V	770	.	ENSP00000351811:A770V	A	+	2	0	EDC4	66472172	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.921000	0.70028	2.560000	0.86352	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	1	0	1	192	760	0	178	1	9.893430e-01	6	24	0	178	2		0	0	0	0	0	2	1	1	191	738	0	177	2								-2.790256	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMB10	5699	broad.mit.edu	37	16	67969889	67969889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67969889G>A	ENST00000358514.4	-	4	697	c.360C>T	c.(358-360)cgC>cgT	p.R120R	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10			6		Ovarian(137;0.0563)		Carfilzomib(DB08889)	GGCGCAGGATGCGAGTGACCG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000358514.4	1	1	hg19	CCDS10853.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	1	0	1	49	214	0	39	1	1	117	528	0	39	2		0	0	0	0	0	2	1	1	48	213	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A4	6560	broad.mit.edu	37	16	67980961	67980961	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67980961T>G	ENST00000316341.3	-	17	2260	c.2120A>C	c.(2119-2121)aAg>aCg	p.K707T	SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K709T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4			29		Ovarian(137;0.192)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCGGGTACTTCACGTGGAG	0.652000																								0							SO:0001583	missense			ENST00000316341.3	1	1	hg19	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706646	0.89018	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	L	0.47078	1.49	0.80722	D	1	B;B;P;B;B;B	0.40553	0.09;0.172;0.721;0.138;0.138;0.172	B;B;P;B;B;B	0.45310	0.193;0.052;0.476;0.111;0.111;0.052	D	0.90615	0.4555	10	0.24483	T	0.36	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	709;707;676;701;707;707	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	709;676;701;707;707	ENSP00000395983:K709T;ENSP00000438334:K676T;ENSP00000445962:K701T;ENSP00000343374:K707T;ENSP00000318557:K707T	ENSP00000318557:K707T	K	-	2	0	SLC12A4	66538462	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.182000	0.58310	2.206000	0.71126	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	1	0	1	11	117	0	33	1	9.986969e-01	13	117	0	33	2		0	0	0	0	0	2	1	9.983715e-01	11	114	0	32	2								-19.988170	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.550000	1.000000	1.000000	0.915941	0.990000	1	7.700000e-01	1
SLC12A4	6560	broad.mit.edu	37	16	67984390	67984390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67984390G>A	ENST00000316341.3	-	12	1601	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000572037.1_Silent_p.G439G|SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000422611.2_Silent_p.G489G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4			29		Ovarian(137;0.192)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGACACCATCGCCATACCTGC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000316341.3	1	1	hg19	CCDS10855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	1	0	1	41	184	0	50	1	1	33	171	0	50	2		0	0	0	0	0	2	1	1	41	179	0	49	2								-3.214024	1	1	121408	2	38	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPEP3	64180	broad.mit.edu	37	16	68011244	68011244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68011244C>T	ENST00000268793.4	-	7	1395	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3			20		Ovarian(137;0.192)			CATCACGATGCCACCGTTCTT	0.567000																								0							SO:0001583	missense			ENST00000268793.4	1	1	hg19	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522503	0.85600	.	.	ENSG00000141096	ENST00000268793	T	0.58940	0.3	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88955	0.3389	10	0.87932	D	0	-0.1207	16.2186	0.82243	0.0:1.0:0.0:0.0	.	316	Q9H4B8	DPEP3_HUMAN	D	341	ENSP00000268793:G341D	ENSP00000268793:G341D	G	-	2	0	DPEP3	66568745	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.945000	0.70226	2.420000	0.82092	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	1	0	1	32	129	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	32	127	0	34	2								-20.000000	1	1	121408	1	24	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DDX28	55794	broad.mit.edu	37	16	68055940	68055940	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68055940T>C	ENST00000332395.5	-	1	1830	c.1166A>G	c.(1165-1167)gAc>gGc	p.D389G	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28			13		Ovarian(137;0.0563)			TTCTGCTCTGTCACGATGCTT	0.493000																								0							SO:0001583	missense			ENST00000332395.5	1	1	hg19	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	T	1.152	-0.646409	0.03531	.	.	ENSG00000182810	ENST00000332395	T	0.71103	-0.54	5.28	1.61	0.23674	Helicase, C-terminal (1);	0.597438	0.18393	N	0.142606	T	0.44307	0.1287	N	0.11341	0.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.33141	T	0.24	-10.4312	4.0144	0.09637	0.0:0.1847:0.1799:0.6354	.	389	Q9NUL7	DDX28_HUMAN	G	389	ENSP00000332340:D389G	ENSP00000332340:D389G	D	-	2	0	DDX28	66613441	0.000000	0.05858	0.054000	0.19295	0.004000	0.04260	0.787000	0.26858	0.535000	0.28714	-0.256000	0.11100	GAC		TCGA-IB-7651-01A-11D-2154-08	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	1	0	1	77	333	0	80	1	9.999992e-01	33	57	0	80	2		0	0	0	0	0	2	1	1	72	329	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC3	4775	broad.mit.edu	37	16	68156009	68156009	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156009T>C	ENST00000346183.3	+	2	247	c.223T>C	c.(223-225)Tca>Cca	p.S75P	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|NFATC3_ENST00000349223.5_Missense_Mutation_p.S75P|NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3			44		Ovarian(137;0.0563)			TTCTGTTTTGTCACCATCGTT	0.408000																								0							SO:0001583	missense			ENST00000346183.3	1	1	hg19	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127301	0.56721	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.12361	2.69;2.69;2.7	5.71	4.61	0.57282	.	0.646421	0.16210	N	0.224538	T	0.20210	0.0486	L	0.39898	1.24	0.36192	D	0.850152	P;P;P;P	0.51147	0.542;0.942;0.542;0.811	B;P;B;B	0.54401	0.288;0.751;0.288;0.288	T	0.10497	-1.0627	10	0.25106	T	0.35	0.3816	11.5118	0.50498	0.0:0.0709:0.0:0.9291	.	75;75;75;75	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	P	75	ENSP00000264008:S75P;ENSP00000300659:S75P;ENSP00000331324:S75P	ENSP00000331324:S75P	S	+	1	0	NFATC3	66713510	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.259000	0.78381	1.101000	0.41535	0.456000	0.33151	TCA		TCGA-IB-7651-01A-11D-2154-08	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	1	0	1	151	551	0	108	1	9.941782e-01	2	29	0	108	2		0	0	0	0	0	2	1	1	148	537	0	107	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC3	4775	broad.mit.edu	37	16	68156483	68156483	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156483C>T	ENST00000346183.3	+	2	721	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y|NFATC3_ENST00000349223.5_Missense_Mutation_p.H233Y|NFATC3_ENST00000575270.1_Missense_Mutation_p.H233Y	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3			44		Ovarian(137;0.0563)			TGGACTTGGACACTCATTATC	0.552000																								0							SO:0001583	missense			ENST00000346183.3	1	1	hg19	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855006	0.17106	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08720	3.06;3.06;3.06	5.28	3.28	0.37604	.	0.224215	0.46442	D	0.000294	T	0.08935	0.0221	L	0.46157	1.445	0.49051	D	0.999746	B;P;B;B	0.41313	0.437;0.745;0.437;0.437	B;B;B;B	0.40375	0.075;0.327;0.12;0.12	T	0.23583	-1.0184	9	.	.	.	-0.3688	10.0157	0.42014	0.1474:0.7807:0.0:0.0719	.	233;233;233;233	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	233	ENSP00000264008:H233Y;ENSP00000300659:H233Y;ENSP00000331324:H233Y	.	H	+	1	0	NFATC3	66713984	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	3.159000	0.50731	0.660000	0.30964	0.563000	0.77884	CAC		TCGA-IB-7651-01A-11D-2154-08	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	1	0	1	57	294	0	94	1	9.959532e-01	9	37	0	94	2		0	0	0	0	0	2	1	1	56	287	0	93	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESRP2	80004	broad.mit.edu	37	16	68264135	68264135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264135A>C	ENST00000565858.1	-	15	2264	c.2178T>G	c.(2176-2178)tgT>tgG	p.C726W	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.C716W|RP11-96D1.10_ENST00000571975.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2			16					TCTCCTACAAACACACCCATT	0.542000											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000565858.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.08	3.020819	0.54576	.	.	ENSG00000103067	ENST00000473183	T	0.19394	2.15	6.06	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.12630	-1.0540	10	0.72032	D	0.01	-10.2521	9.6903	0.40125	0.7449:0.0:0.2551:0.0	.	726;716	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	W	716	ENSP00000418748:C716W	ENSP00000418748:C716W	C	-	3	2	ESRP2	66821636	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.587000	0.46128	0.533000	0.28675	0.533000	0.62120	TGT		TCGA-IB-7651-01A-11D-2154-08	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	0	0	1	75	357	0	83	1	9.999973e-01	31	59	0	83	2		0	0	0	0	0	2	1	1	73	349	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESRP2	80004	broad.mit.edu	37	16	68264366	68264366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264366C>T	ENST00000565858.1	-	14	2106	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.A664T|RP11-96D1.10_ENST00000571975.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2			16					CGGACCAAGGCTCCTGACTGG	0.632000																								0							SO:0001583	missense			ENST00000565858.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694056	0.68386	.	.	ENSG00000103067	ENST00000473183	T	0.11277	2.79	5.93	4.98	0.66077	.	0.101915	0.64402	D	0.000002	T	0.12390	0.0301	L	0.39397	1.21	0.80722	D	1	B;B	0.31599	0.33;0.184	B;B	0.37833	0.132;0.259	T	0.11717	-1.0576	10	0.15499	T	0.54	-11.6059	15.2254	0.73348	0.0:0.9327:0.0:0.0673	.	674;664	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	T	664	ENSP00000418748:A664T	ENSP00000418748:A664T	A	-	1	0	ESRP2	66821867	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.900000	0.63252	1.517000	0.48917	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	1	0	1	98	438	0	88	1	9.999910e-01	31	44	0	88	2		0	0	0	0	0	2	1	1	93	426	0	86	2								-20.000000	1	1	121412	1	25	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G15	23659	broad.mit.edu	37	16	68293398	68293398	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68293398C>T	ENST00000219345.5	+	6	1160	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Silent_p.G159G|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Silent_p.G265G	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV			12					TTGGTGACGGCGATGGTACTG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000219345.5	1	1	hg19	CCDS10864.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	1	0	1	63	312	0	67	1	1	18	131	0	67	2		0	0	0	0	0	2	1	1	61	311	0	66	2								-20.000000	1	1	121412	2	37	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRMT7	54496	broad.mit.edu	37	16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7			20		Ovarian(137;0.192)			AATTGTGAGGCCGTGCCCCAC	0.463000																								0							SO:0001583	missense			ENST00000339507.5	1	1	hg19	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886249	0.51908	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.32530	0.975	0.80722	D	1	P;D;B;D	0.76494	0.725;0.999;0.04;0.984	P;D;B;D	0.77557	0.618;0.99;0.023;0.913	T	0.06144	-1.0843	10	0.02654	T	1	-10.0304	13.0255	0.58812	0.0:0.9217:0.0:0.0783	.	123;99;173;173	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	V	123;123;99;173	ENSP00000414716:A123V;ENSP00000409324:A123V;ENSP00000345775:A99V;ENSP00000343103:A173V	ENSP00000343103:A173V	A	+	2	0	PRMT7	66930739	1.000000	0.71417	0.987000	0.45799	0.584000	0.36387	5.604000	0.67626	1.575000	0.49775	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	1	0	1	52	268	0	56	1	9.920144e-01	9	32	0	56	2		0	0	0	0	0	2	1	1	51	266	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRMT7	54496	broad.mit.edu	37	16	68387411	68387411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68387411G>A	ENST00000339507.5	+	16	2422	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q|PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7			20		Ovarian(137;0.192)			TGGCGGATCCGGAGCCCCTGT	0.617000																								0							SO:0001583	missense			ENST00000339507.5	1	1	hg19	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	36	5.897583	0.97081	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.83774	2.66	0.33124	D	0.542121	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.966;0.997;0.91	T	0.67090	-0.5758	10	0.54805	T	0.06	-30.2729	15.8933	0.79318	0.0:0.0:1.0:0.0	.	481;383;531	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	Q	481;481;383;531	ENSP00000414716:R481Q;ENSP00000409324:R481Q;ENSP00000345775:R383Q;ENSP00000343103:R531Q	ENSP00000343103:R531Q	R	+	2	0	PRMT7	66944912	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.756000	0.91651	2.824000	0.97209	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	1	0	0	16	359	0	99	1	9.002105e-01	6	87	0	99	2		0	0	0	0	0	2	1	9.999268e-01	16	352	0	97	2								-2.870347	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.510000	0.300000	1.000000	0.500000	0.548685	0.510000	0	4.000000e-01	6.800000e-01
SMPD3	55512	broad.mit.edu	37	16	68404770	68404770	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68404770A>G	ENST00000219334.5	-	3	1918	c.1315T>C	c.(1315-1317)Ttt>Ctt	p.F439L	SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L|SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)			21		Ovarian(137;0.0563)		Phosphatidylserine(DB00144)	ACCTTGAGAAACAGAGCTCCC	0.612000																								0							SO:0001583	missense			ENST00000219334.5	1	1	hg19	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072488	0.36566	.	.	ENSG00000103056	ENST00000219334	T	0.27890	1.64	5.37	5.37	0.77165	Endonuclease/exonuclease/phosphatase (2);	0.047576	0.85682	D	0.000000	T	0.24661	0.0598	L	0.29908	0.895	0.47819	D	0.99952	B;B;B	0.21225	0.003;0.053;0.053	B;B;B	0.27715	0.007;0.082;0.082	T	0.05971	-1.0853	10	0.23891	T	0.37	-5.2878	13.319	0.60423	1.0:0.0:0.0:0.0	.	439;439;439	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	L	439	ENSP00000219334:F439L	ENSP00000219334:F439L	F	-	1	0	SMPD3	66962271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.837000	0.75354	2.036000	0.60181	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	1	0	1	25	96	0	22	1	9.187359e-01	9	10	0	22	2		0	0	0	0	0	2	1	9.999999e-01	25	96	0	22	2								-17.641890	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	C	T	rs147838351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68405851C>T	ENST00000219334.5	-	3	837	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_ENST00000568373.1_Silent_p.A78A|SMPD3_ENST00000563226.1_Silent_p.A78A|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)			21		Ovarian(137;0.0563)		Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000219334.5	1	0	hg19	CCDS10867.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	1	0	1	18	100	0	18	1	8.058450e-01	6	13	0	18	2		0	0	0	0	0	2	1	9.999864e-01	17	98	0	18	2								-20.000000	1	0	121332	15	41	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999224	0.990000	1	9.900000e-01	1
CDH1	999	broad.mit.edu	37	16	68863587	68863587	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68863587C>A	ENST00000261769.5	+	15	2517	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	CDH1_ENST00000422392.2_Missense_Mutation_p.L715M|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)			311		all_neural(199;0.0189)|Ovarian(137;0.0563)			GCACAGGGGCCTGGACGCTCG	0.507000			Mis, N, F, S		lobular breast, gastric	gastric			Hereditary Diffuse Gastric Cancer					yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	cadherin 1, type 1, E-cadherin (epithelial) (ECAD)		E	0							SO:0001583	missense	Familial Cancer Database	HDGC	ENST00000261769.5	1	1	hg19	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753410	0.89753	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.77358	-1.09;-1.09	5.94	5.94	0.96194	Cadherin, cytoplasmic domain (1);	0.000000	0.40064	N	0.001183	D	0.88100	0.6346	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86591	0.1860	10	0.46703	T	0.11	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	715;776	Q9UII8;P12830	.;CADH1_HUMAN	M	776;794;715	ENSP00000261769:L776M;ENSP00000414946:L715M	ENSP00000261769:L776M	L	+	1	2	CDH1	67421088	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.855000	0.62925	2.826000	0.97356	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	1	0	1	51	240	0	48	1	1	152	253	0	48	2		0	0	0	0	0	2	1	1	51	237	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAS3	3038	broad.mit.edu	37	16	69143880	69143880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69143880C>T	ENST00000306560.1	+	2	738	c.582C>T	c.(580-582)cgC>cgT	p.R194R	HAS3_ENST00000569188.1_Silent_p.R194R|HAS3_ENST00000219322.3_Silent_p.R194R	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3			16		Ovarian(137;0.101)			GAGGCAAGCGCGAGGTCATGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000306560.1	1	1	hg19	CCDS10871.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	1	0	1	45	160	0	31	1	2.170961e-01	4	0	0	31	2		0	0	0	0	0	2	1	1	44	156	0	31	2								-20.000000	1	1	121402	5	40	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAS3	3038	broad.mit.edu	37	16	69148647	69148647	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69148647C>A	ENST00000306560.1	+	4	1296	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	HAS3_ENST00000569188.1_Silent_p.T380T|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3			16		Ovarian(137;0.101)			TCTGGATGACCTACGAGTCAG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000306560.1	1	1	hg19	CCDS10871.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	0	0	1	143	536	0	103	1	7.537011e-01	7	5	0	103	2		0	0	0	0	0	2	1	1	142	527	0	102	2								-3.948388	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIRH1A	84916	broad.mit.edu	37	16	69199419	69199419	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69199419A>C	ENST00000314423.7	+	15	2000	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	CIRH1A_ENST00000563094.1_Missense_Mutation_p.D608A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)			16					TGCATCATTGACAAGTCATTG	0.423000													Melanoma(69;1156 1278 4951 8715 52012)											0							SO:0001583	missense			ENST00000314423.7	1	1	hg19	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218425	0.79464	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.58060	0.87;0.36	6.17	5.08	0.68730	.	0.044316	0.85682	D	0.000000	T	0.70482	0.3229	M	0.74881	2.28	0.58432	D	0.999995	D;D	0.89917	1.0;0.983	D;P	0.77004	0.989;0.808	T	0.73347	-0.4011	10	0.87932	D	0	.	11.5887	0.50933	0.9297:0.0:0.0703:0.0	.	608;608	Q969X6;Q969X6-3	CIR1A_HUMAN;.	A	608;493	ENSP00000327179:D608A;ENSP00000339164:D493A	ENSP00000327179:D608A	D	+	2	0	CIRH1A	67756920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.048000	0.89442	1.146000	0.42352	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	1	0	1	38	162	0	43	1	1	53	135	0	43	2		0	0	0	0	0	2	1	1	37	160	0	41	2								-19.999010	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TERF2	7014	broad.mit.edu	37	16	69395344	69395344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69395344C>T	ENST00000254942.3	-	8	1405	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	TERF2_ENST00000603068.1_Silent_p.E421E	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2			7		Ovarian(137;0.101)			CCACCCAAGTCTCCTTTTCTT	0.463000													Ovarian(13;63 524 30420 31710 34037)											0							SO:0001819	synonymous_variant			ENST00000254942.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2	1	0	1	90	456	0	114	1	9.999970e-01	35	58	0	114	2		0	0	0	0	0	2	1	1	89	449	0	114	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFAT5	10725	broad.mit.edu	37	16	69725910	69725910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725910C>T	ENST00000354436.2	+	12	2446	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive			37					GCAGGCTACACAGTTTCAGAC	0.453000																								0							SO:0001587	stop_gained			ENST00000354436.2	0	1	hg19	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	39	7.348624	0.98228	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	6.08	6.08	0.98989	.	0.270197	0.42964	D	0.000628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.16	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	728;727;634;710;634	.	ENSP00000338806:Q634X	Q	+	1	0	NFAT5	68283411	1.000000	0.71417	0.998000	0.56505	0.663000	0.39108	3.648000	0.54410	2.894000	0.99253	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	1	0	1	70	309	0	74	1	9.808199e-01	2	28	0	74	2		0	0	0	0	0	2	1	1	70	305	0	74	2								-20.000000	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFAT5	10725	broad.mit.edu	37	16	69725929	69725929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725929C>T	ENST00000354436.2	+	12	2465	c.2147C>T	c.(2146-2148)aCt>aTt	p.T716I	NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000349945.1_Missense_Mutation_p.T640I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive			37					ACAAGAGAAACTCAGTCTAGA	0.453000																								0							SO:0001583	missense			ENST00000354436.2	1	1	hg19	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537703	0.45176	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.08	5.12	0.69794	.	0.847763	0.11135	N	0.595942	T	0.31167	0.0788	N	0.14661	0.345	0.24227	N	0.995411	B;B;B	0.18166	0.016;0.016;0.026	B;B;B	0.17979	0.009;0.009;0.02	T	0.20907	-1.0261	10	0.32370	T	0.25	-1.521	16.105	0.81213	0.0:0.6288:0.3712:0.0	.	733;716;734	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	734;733;640;716;640	ENSP00000396538:T734I;ENSP00000338806:T640I;ENSP00000346420:T716I;ENSP00000377343:T640I	ENSP00000338806:T640I	T	+	2	0	NFAT5	68283430	0.050000	0.20438	0.968000	0.41197	0.967000	0.64934	1.052000	0.30429	1.556000	0.49512	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	1	0	1	66	303	0	78	1	9.857712e-01	11	22	0	78	2		0	0	0	0	0	2	1	1	65	300	0	78	2								-20.000000	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM195A	84331	broad.mit.edu	37	16	697444	697444	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:697444T>G	ENST00000307650.4	+	3	389	c.210T>G	c.(208-210)cgT>cgG	p.R70R	WDR90_ENST00000293879.4_5'Flank|AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_5'Flank	NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A			2					TGTTCAATCGTGTGAATGGCC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000307650.4	1	1	hg19	CCDS10415.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM195A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109347.2	1	0	1	56	219	0	56	1	1	35	73	0	56	2		0	0	0	0	0	2	1	1	56	214	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WWP2	11060	broad.mit.edu	37	16	69922018	69922018	+	Silent	SNP	C	C	A	rs145327694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69922018C>A	ENST00000359154.2	+	8	881	c.780C>A	c.(778-780)ccC>ccA	p.P260P	WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000356003.2_Silent_p.P260P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2			42					CTGCTGCACCCTTGAGTGTGA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000359154.2	1	1	hg19	CCDS10885.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	1	0	1	106	491	0	111	1	1	51	101	0	111	2	1	1	129	561	0	547	2	1	1	102	471	0	110	2								-3.116153	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WWP2	11060	broad.mit.edu	37	16	69971090	69971090	+	Silent	SNP	C	C	T	rs144693307	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69971090C>T	ENST00000359154.2	+	20	2288	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000356003.2_Silent_p.N729N|WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2			42					ATGGCTTCAACGAGGTGGCCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000359154.2	1	1	hg19	CCDS10885.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	1	0	1	57	243	0	64	1	1	36	109	0	64	2	1	1	234	1156	1	1291	6	1	1	57	238	0	63	2								-20.000000	1	1	121412	3	36	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR90	197335	broad.mit.edu	37	16	701862	701862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:701862G>A	ENST00000293879.4	+	9	876	c.876G>A	c.(874-876)ccG>ccA	p.P292P	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Silent_p.P292P			Q96KV7	WDR90_HUMAN	WD repeat domain 90			37		Hepatocellular(780;0.0218)			GGCCCTTCCCGGAGGTCAGCC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000293879.4	1	1	hg19	CCDS42092.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	1	0	1	43	204	0	44	0	4.878764e-01	1	8	0	44	2		0	0	0	0	0	2	1	1	41	202	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDPR	55066	broad.mit.edu	37	16	70190411	70190411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70190411C>T	ENST00000288050.4	+	19	3226	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*|PDPR_ENST00000562100.1_3'UTR|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit			33					CGCCCTCCTGCAGCAGAAGCA	0.542000																								0							SO:0001587	stop_gained			ENST00000288050.4	0	1	hg19	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569369	0.28003	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	.	.	.	6.03	5.05	0.67936	.	0.464135	0.24764	N	0.035792	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8745	0.41195	0.2471:0.6157:0.1372:0.0	.	.	.	.	X	757;657;424;102	.	ENSP00000205055:Q424X	Q	+	1	0	PDPR	68747912	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	1.617000	0.36943	2.868000	0.98415	0.557000	0.71058	CAG		TCGA-IB-7651-01A-11D-2154-08	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	1	0	0	76	581	0	134	1	9.416183e-01	2	36	0	134	2		0	0	0	0	0	2	1	1	74	574	0	134	2								-20.000000	1	1	121054	1	28	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999893	0.990000	1	9.900000e-01	1
FUK	197258	broad.mit.edu	37	16	70501802	70501802	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70501802A>G	ENST00000288078.6	+	8	828	c.596A>G	c.(595-597)gAc>gGc	p.D199G	FUK_ENST00000378912.2_Missense_Mutation_p.D231G|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase			23		Ovarian(137;0.0694)			CTTGTTTTGGACATTTACTAC	0.597000																								0							SO:0001583	missense			ENST00000288078.6	1	1	hg19	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797143	0.70567	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.32988	1.43;1.43	5.17	5.17	0.71159	L-fucokinase (1);	0.123047	0.52532	D	0.000076	T	0.53658	0.1810	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.988	T	0.53940	-0.8367	10	0.44086	T	0.13	-23.5079	14.3028	0.66364	1.0:0.0:0.0:0.0	.	231;199	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	G	199;231	ENSP00000288078:D199G;ENSP00000368192:D231G	ENSP00000288078:D199G	D	+	2	0	FUK	69059303	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	6.373000	0.73128	2.102000	0.63906	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	1	0	1	68	242	0	54	1	9.657492e-01	4	18	0	54	2		0	0	0	0	0	2	1	1	68	240	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COG4	25839	broad.mit.edu	37	16	70534950	70534950	+	Missense_Mutation	SNP	C	C	T	rs146268306	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70534950C>T	ENST00000323786.5	-	9	1127	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	p.R369H(1)		33		Ovarian(137;0.0694)			TAGCTCACTGCGGGCATTCAT	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000323786.5	1	1	hg19	CCDS10892.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.541253	0.96474	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.55930	0.49	5.84	5.84	0.93424	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.78066	-0.2349	10	0.87932	D	0	-10.7016	20.1551	0.98106	0.0:1.0:0.0:0.0	.	275;364;365	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	H	369;365;27	ENSP00000315775:R369H	ENSP00000315775:R369H	R	-	2	0	COG4	69092451	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.427000	0.80284	2.760000	0.94817	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3	1	0	1	50	242	0	79	1	9.999992e-01	12	93	0	79	2		0	0	0	0	0	2	1	1	49	238	0	77	2								-4.153358	1	1	121412	12	42	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR90	197335	broad.mit.edu	37	16	705640	705640	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:705640C>A	ENST00000293879.4	+	16	1786	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	WDR90_ENST00000549091.1_Missense_Mutation_p.R596S|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90			37		Hepatocellular(780;0.0218)			GCGGCATGCCCGCCGCCTGCT	0.682000																								0							SO:0001583	missense			ENST00000293879.4	0	1	hg19	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541312	0.45280	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.33438	1.44;1.41	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000002	T	0.50582	0.1624	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.70227	0.923;0.919;0.921;0.968	T	0.46005	-0.9222	10	0.23302	T	0.38	.	11.7813	0.52016	0.1755:0.8245:0.0:0.0	.	596;596;597;596	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	S	596	ENSP00000448122:R596S;ENSP00000293879:R596S	ENSP00000293879:R596S	R	+	1	0	WDR90	645641	0.988000	0.35896	0.302000	0.25058	0.141000	0.21300	2.803000	0.47924	2.157000	0.67596	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	1	0	0	9	86	0	10	0	1.619701e-01	0	7	0	10	2		0	0	0	0	0	2	1	9.947144e-01	9	85	0	10	2								-14.707820	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.600000	1.000000	1.000000	0.949729	0.990000	1	8.600000e-01	1
SF3B3	23450	broad.mit.edu	37	16	70589013	70589013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589013C>T	ENST00000302516.5	+	13	1825	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa			53		Ovarian(137;0.0694)			AGTGGAAGACCCCTGGAAAGA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000302516.5	1	1	hg19	CCDS10894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	1	0	1	68	362	0	103	1	1	58	134	0	103	2		0	0	0	0	0	2	1	1	67	354	0	103	2								-3.228294	1	0	121412	1	30	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SF3B3	23450	broad.mit.edu	37	16	70589061	70589061	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589061G>A	ENST00000302516.5	+	13	1873	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa			53		Ovarian(137;0.0694)			AGCGACAAGTGGTGATTGCCC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000302516.5	1	1	hg19	CCDS10894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	1	0	1	120	503	0	146	1	1	75	201	0	146	2		0	0	0	0	0	2	1	1	119	491	0	145	2								-3.098995	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SF3B3	23450	broad.mit.edu	37	16	70589068	70589068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589068G>A	ENST00000302516.5	+	13	1880	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa			53		Ovarian(137;0.0694)			AGTGGTGATTGCCCTGACAGG	0.473000																								0							SO:0001583	missense			ENST00000302516.5	1	1	hg19	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890067	0.91889	.	.	ENSG00000189091	ENST00000302516	T	0.19105	2.17	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.79258	2.445	0.80722	D	1	P	0.45011	0.848	P	0.47941	0.562	T	0.23797	-1.0178	10	0.59425	D	0.04	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	557	Q15393	SF3B3_HUMAN	T	557	ENSP00000305790:A557T	ENSP00000305790:A557T	A	+	1	0	SF3B3	69146569	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.835000	0.99442	2.720000	0.93068	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	1	0	1	98	531	0	147	1	1	82	189	0	147	2		0	0	0	0	0	2	1	1	97	520	0	146	2								-20.000000	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SF3B3	23450	broad.mit.edu	37	16	70603981	70603981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70603981G>T	ENST00000302516.5	+	24	3548	c.3337G>T	c.(3337-3339)Ggc>Tgc	p.G1113C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa			53		Ovarian(137;0.0694)			GATCCCTGGAGGCTCAGAATC	0.532000																								0							SO:0001583	missense			ENST00000302516.5	1	1	hg19	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407359	0.83230	.	.	ENSG00000189091	ENST00000302516	T	0.48201	0.82	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83781	0.0225	10	0.87932	D	0	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1113	Q15393	SF3B3_HUMAN	C	1113	ENSP00000305790:G1113C	ENSP00000305790:G1113C	G	+	1	0	SF3B3	69161482	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	1	0	1	33	284	0	51	1	1	46	293	0	51	2		0	0	0	0	0	2	1	1	33	277	0	51	2								-12.911680	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.870000	1.000000	1.000000	0.991570	0.990000	1	9.900000e-01	1
SF3B3	23450	broad.mit.edu	37	16	70605707	70605707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70605707C>T	ENST00000302516.5	+	26	3856	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa			53		Ovarian(137;0.0694)			GGACCCGCTACGCCTTCTGAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000302516.5	1	1	hg19	CCDS10894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	0	0	1	59	272	1	80	1	1	104	296	1	80	17		0	0	0	0	0	2	1	1	54	268	1	80	15								-20.000000	1	1	121412	7	40	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTSS1L	92154	broad.mit.edu	37	16	70698336	70698336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70698336G>T	ENST00000338779.6	-	15	1762	c.1488C>A	c.(1486-1488)tgC>tgA	p.C496*	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like			7					TCACGGAGTAGCAGTCGTAGT	0.672000																								0							SO:0001587	stop_gained			ENST00000338779.6	0	1	hg19	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	38	7.245377	0.98161	.	.	ENSG00000132613	ENST00000338779	.	.	.	4.89	4.89	0.63831	.	0.049273	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-33.5027	11.2412	0.48970	0.0861:0.0:0.9139:0.0	.	.	.	.	X	496	.	ENSP00000341171:C496X	C	-	3	2	MTSS1L	69255837	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.019000	0.49635	2.245000	0.73994	0.462000	0.41574	TGC		TCGA-IB-7651-01A-11D-2154-08	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	1	0	1	20	76	0	12	1	9.971541e-01	2	38	0	12	2		0	0	0	0	0	2	1	9.999977e-01	20	75	0	11	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
MTSS1L	92154	broad.mit.edu	37	16	70714875	70714875	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70714875G>A	ENST00000338779.6	-	2	397	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like			7					ACCTCAGCTGGGAATGCAGCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000338779.6	1	1	hg19	CCDS32476.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	1	0	1	17	53	0	16	1	9.962995e-01	2	31	0	16	2		0	0	0	0	0	2	1	9.999837e-01	17	52	0	16	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
VAC14	55697	broad.mit.edu	37	16	70778369	70778369	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70778369G>T	ENST00000261776.5	-	13	1745	c.1485C>A	c.(1483-1485)ctC>ctA	p.L495L	RP11-394B2.6_ENST00000567186.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)			33		Ovarian(137;0.0699)			TGGGCACCTGGAGCTCTGAGT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000261776.5	1	1	hg19	CCDS10896.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	1	0	1	67	299	0	56	1	1	25	127	0	56	2		0	0	0	0	0	2	1	1	65	293	0	52	2								-3.427957	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VAC14	55697	broad.mit.edu	37	16	70815788	70815788	+	Silent	SNP	G	G	A	rs145425796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70815788G>A	ENST00000261776.5	-	8	1190	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)			33		Ovarian(137;0.0699)			TGCGGTCATCGTAGGCCAAGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000261776.5	1	1	hg19	CCDS10896.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	0	0	1	29	254	0	55	1	9.998548e-01	16	106	0	55	2		0	0	0	0	0	2	1	1	29	253	0	55	2								-8.191019	1	1	121412	22	45	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.840000	1.000000	1.000000	0.987803	0.990000	1	9.900000e-01	1
VAC14	55697	broad.mit.edu	37	16	70818699	70818699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70818699G>A	ENST00000261776.5	-	4	726	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)			33		Ovarian(137;0.0699)			CGGTCTAGGAGCTCAGATCCG	0.498000																								0							SO:0001583	missense			ENST00000261776.5	1	1	hg19	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540889	0.85917	.	.	ENSG00000103043	ENST00000261776	D	0.97665	-4.48	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97880	1.0291	10	0.59425	D	0.04	-28.1775	12.4816	0.55847	0.0762:0.0:0.9237:0.0	.	156	Q08AM6	VAC14_HUMAN	F	156	ENSP00000261776:L156F	ENSP00000261776:L156F	L	-	1	0	VAC14	69376200	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.850000	0.69473	2.531000	0.85337	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	1	0	1	143	659	0	129	1	1	33	76	0	129	2		0	0	0	0	0	2	1	1	139	644	0	128	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HYDIN	54768	broad.mit.edu	37	16	70841708	70841708	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70841708A>G	ENST00000393567.2	-	86	15291	c.15141T>C	c.(15139-15141)taT>taC	p.Y5047Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein			43		Ovarian(137;0.0654)			TCACCATGTGATAGAAGACAT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000393567.2	1	1	hg19	CCDS59269.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0	0	0	16	361	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	9.999329e-01	16	358	0	73	2								-4.144614	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.510000	0.300000	1.000000	0.500000	0.546075	0.510000	0	3.900000e-01	6.700000e-01
WDR90	197335	broad.mit.edu	37	16	708580	708580	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708580G>A	ENST00000293879.4	+	23	2822	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	WDR90_ENST00000549091.1_Missense_Mutation_p.R941H|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90			37		Hepatocellular(780;0.0218)			GAGGACGCCCGCTTCCTGCTG	0.662000																								0							SO:0001583	missense			ENST00000293879.4	1	1	hg19	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	8.143	0.785589	0.16189	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.53423	0.62;3.51	5.12	-2.04	0.07343	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.080706	0.50627	U	0.000119	T	0.32315	0.0825	L	0.50847	1.595	0.09310	N	1	B;B	0.27971	0.066;0.196	B;B	0.18561	0.011;0.022	T	0.15178	-1.0446	10	0.31617	T	0.26	.	7.9236	0.29861	0.3941:0.1034:0.5026:0.0	.	941;941	F8VUX9;Q96KV7	.;WDR90_HUMAN	H	941	ENSP00000448122:R941H;ENSP00000293879:R941H	ENSP00000293879:R941H	R	+	2	0	WDR90	648581	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.987000	0.29603	-0.231000	0.09825	-0.140000	0.14226	CGC		TCGA-IB-7651-01A-11D-2154-08	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	0	0	1	109	362	1	52	1	7.094495e-01	3	12	1	52	3		0	0	0	0	0	2	1	1	109	358	0	51	2								-4.508702	1	0	120852	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR90	197335	broad.mit.edu	37	16	708595	708595	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708595C>A	ENST00000293879.4	+	23	2837	c.2837C>A	c.(2836-2838)gCc>gAc	p.A946D	WDR90_ENST00000549091.1_Missense_Mutation_p.A946D|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90			37		Hepatocellular(780;0.0218)			CTGCTGATTGCCGCCGGCCGG	0.672000																								0							SO:0001583	missense			ENST00000293879.4	1	1	hg19	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299650	0.60195	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.56444	0.46;3.32	5.42	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.75686	0.3883	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.80754	-0.1241	10	0.87932	D	0	.	13.2126	0.59834	0.0:0.9232:0.0:0.0768	.	946;946	F8VUX9;Q96KV7	.;WDR90_HUMAN	D	946	ENSP00000448122:A946D;ENSP00000293879:A946D	ENSP00000293879:A946D	A	+	2	0	WDR90	648596	1.000000	0.71417	0.010000	0.14722	0.000000	0.00434	6.960000	0.76036	1.294000	0.44707	-0.136000	0.14681	GCC		TCGA-IB-7651-01A-11D-2154-08	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	1	0	1	101	338	0	50	1	9.096807e-01	2	14	0	50	2		0	0	0	0	0	2	1	1	101	335	0	50	2								-4.396591	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HYDIN	54768	broad.mit.edu	37	16	70954552	70954552	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70954552A>G	ENST00000393567.2	-	46	7877	c.7727T>C	c.(7726-7728)tTt>tCt	p.F2576S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein			43		Ovarian(137;0.0654)			CAAGCCTTCAAAGTCTGGTGT	0.592000																								0							SO:0001583	missense			ENST00000393567.2	1	1	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	8.662	0.900781	0.17686	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00760	5.73	5.89	-4.2	0.03823	.	1.438640	0.05358	N	0.533179	T	0.00666	0.0022	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48293	-0.9048	10	0.08599	T	0.76	.	10.6572	0.45682	0.2027:0.1429:0.6544:0.0	.	2575	F8WD23	.	S	2576;2575	ENSP00000377197:F2576S	ENSP00000313052:F2575S	F	-	2	0	HYDIN	69512053	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.702000	0.25631	-0.698000	0.05085	-0.315000	0.08773	TTT		TCGA-IB-7651-01A-11D-2154-08	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	1	0	1	23	110	0	16	0	0	0	1	0	16	2		0	0	0	0	0	2	1	9.999995e-01	21	106	0	16	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999941	0.990000	1	9.900000e-01	1
ZNF19	7567	broad.mit.edu	37	16	71510112	71510112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71510112C>A	ENST00000288177.5	-	6	593	c.338G>T	c.(337-339)gGg>gTg	p.G113V	ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V|ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19			22		Ovarian(137;0.00965)			TGACATCATCCCATCTCTTTC	0.428000																								0							SO:0001583	missense			ENST00000288177.5	1	1	hg19	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	5.104	0.204858	0.09704	.	.	ENSG00000157429	ENST00000288177	T	0.05258	3.47	3.0	-2.25	0.06888	.	2.866660	0.01468	N	0.016151	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.27785	T	0.31	.	6.4821	0.22069	0.3951:0.5005:0.1045:0.0	.	113	P17023	ZNF19_HUMAN	V	113	ENSP00000288177:G113V	ENSP00000288177:G113V	G	-	2	0	ZNF19	70067613	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.648000	0.00859	-0.534000	0.06315	-0.397000	0.06425	GGG		TCGA-IB-7651-01A-11D-2154-08	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	1	0	1	41	236	0	72	0	3.442055e-01	0	8	0	72	2		0	0	0	0	0	2	1	1	40	231	0	72	2								-2.927346	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
ZNF19	7567	broad.mit.edu	37	16	71515996	71515996	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71515996C>A	ENST00000288177.5	-	3	277	c.22G>T	c.(22-24)Gct>Tct	p.A8S	ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000567225.1_Missense_Mutation_p.A8S|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A8S|ZNF19_ENST00000564230.1_Missense_Mutation_p.A8S|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000568446.1_5'Flank	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19			22		Ovarian(137;0.00965)			TGGTATTGAGCTTTCAGAGGC	0.507000																								0							SO:0001583	missense			ENST00000288177.5	1	0	hg19	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	7.008	0.556229	0.13436	.	.	ENSG00000157429	ENST00000288177	T	0.05447	3.44	2.62	0.54	0.17163	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.33668	1.02	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.40040	-0.9584	9	0.39692	T	0.17	.	5.5727	0.17206	0.1911:0.6832:0.0:0.1257	.	8	P17023	ZNF19_HUMAN	S	8	ENSP00000288177:A8S	ENSP00000288177:A8S	A	-	1	0	ZNF19	70073497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.308000	0.08156	-0.093000	0.12396	-1.579000	0.00862	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	1	0	1	28	100	0	34	0	4.823559e-01	0	7	0	34	2		0	0	0	0	0	2	1	1	28	97	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TAT	6898	broad.mit.edu	37	16	71604584	71604584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604584C>T	ENST00000355962.4	-	8	1043	c.910G>A	c.(910-912)Gag>Aag	p.E304K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase			29		Ovarian(137;0.125)		L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	ATTATCACCTCATTGCCAAAA	0.473000													Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											0							SO:0001583	missense			ENST00000355962.4	1	1	hg19	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367297	0.41902	.	.	ENSG00000198650	ENST00000355962	D	0.91124	-2.79	5.44	5.44	0.79542	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.163302	0.56097	D	0.000033	D	0.86973	0.6062	L	0.31845	0.965	0.54753	D	0.999987	B	0.27264	0.173	B	0.27170	0.077	T	0.83192	-0.0083	10	0.35671	T	0.21	-22.7911	19.2736	0.94021	0.0:1.0:0.0:0.0	.	304	P17735	ATTY_HUMAN	K	304	ENSP00000348234:E304K	ENSP00000348234:E304K	E	-	1	0	TAT	70162085	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.518000	0.60510	2.546000	0.85860	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1	0	0	0	10	302	0	56	0	1.334547e-03	0	2	0	56	2		0	0	0	0	0	2	1	9.966385e-01	9	296	0	56	2								-3.402320	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.390000	0.200000	1.000000	0.370000	0.435767	0.390000	0	2.800000e-01	5.500000e-01
MARVELD3	91862	broad.mit.edu	37	16	71674597	71674597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71674597C>T	ENST00000299952.4	+	3	943	c.900C>T	c.(898-900)ctC>ctT	p.L300L	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3			17		Ovarian(137;0.125)			GGAAGTGGCTCCTCACGGAGG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000299952.4	1	1	hg19	CCDS32478.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	1	0	0	18	266	0	62	1	8.146331e-01	6	42	0	62	2		0	0	0	0	0	2	1	9.999804e-01	17	260	0	60	2								-19.990140	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.760000	0.460000	1.000000	1.000000	0.773983	0.760000	0	6.000000e-01	9.800000e-01
PHLPP2	23035	broad.mit.edu	37	16	71683709	71683709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71683709C>T	ENST00000568954.1	-	19	3434	c.3056G>A	c.(3055-3057)aGc>aAc	p.S1019N	PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S952N|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2			37					ACAGCCATAGCTCTGCGCTAA	0.493000																								0							SO:0001583	missense			ENST00000568954.1	1	1	hg19	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511836	0.85389	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.17528	2.27;2.27	5.9	5.9	0.94986	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.07673	-1.0760	10	0.59425	D	0.04	-19.9405	19.2671	0.93993	0.0:1.0:0.0:0.0	.	952;1019	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	N	1019;952	ENSP00000348611:S1019N;ENSP00000377159:S952N	ENSP00000348611:S1019N	S	-	2	0	PHLPP2	70241210	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	1	0	1	192	757	0	208	0	8.627537e-01	1	15	0	208	2		0	0	0	0	0	2	1	1	190	746	0	206	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLPP2	23035	broad.mit.edu	37	16	71686695	71686695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71686695C>T	ENST00000568954.1	-	18	3193	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.E872K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2			37					GAACACACCTCTGTGATGATG	0.557000																								0							SO:0001583	missense			ENST00000568954.1	1	1	hg19	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513646	0.96402	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.41	5.41	0.78517	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.02417	-1.1162	10	0.44086	T	0.13	-18.1224	18.1921	0.89810	0.0:1.0:0.0:0.0	.	872;939	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	K	149;746;939;939;872	ENSP00000445781:E149K;ENSP00000353610:E939K;ENSP00000348611:E939K;ENSP00000377159:E872K	ENSP00000299971:E746K	E	-	1	0	PHLPP2	70244196	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.818000	0.86416	2.523000	0.85059	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	1	0	1	41	280	0	64	1	7.670588e-01	4	17	0	64	2		0	0	0	0	0	2	1	1	40	269	0	63	2								-20.000000	1	0	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999780	0.990000	1	9.900000e-01	1
PHLPP2	23035	broad.mit.edu	37	16	71692594	71692594	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71692594T>C	ENST00000568954.1	-	14	2488	c.2110A>G	c.(2110-2112)Agc>Ggc	p.S704G	PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000393524.2_Missense_Mutation_p.S637G|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000540628.1_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2			37					GGGAAAATGCTGATGTTGTTG	0.458000																								0							SO:0001583	missense			ENST00000568954.1	1	1	hg19	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972492	0.74246	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T	0.26373	1.74;2.11;2.08	5.82	5.82	0.92795	.	0.040777	0.85682	D	0.000000	T	0.30823	0.0777	N	0.19112	0.55	0.51012	D	0.999909	D;P	0.56968	0.978;0.919	P;B	0.56343	0.796;0.35	T	0.04593	-1.0940	10	0.44086	T	0.13	-18.2593	15.3644	0.74510	0.0:0.0:0.0:1.0	.	637;704	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	511;704;704;637	ENSP00000353610:S704G;ENSP00000348611:S704G;ENSP00000377159:S637G	ENSP00000299971:S511G	S	-	1	0	PHLPP2	70250095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.157000	0.64911	2.228000	0.72767	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	1	0	1	118	465	0	119	1	8.371378e-01	4	11	0	119	2		0	0	0	0	0	2	1	1	117	455	0	119	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLPP2	23035	broad.mit.edu	37	16	71713307	71713307	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71713307A>G	ENST00000568954.1	-	7	1400	c.1022T>C	c.(1021-1023)aTt>aCt	p.I341T	PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000393524.2_Missense_Mutation_p.I341T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2			37					CAGATTGCCAATTTGACTTGG	0.388000																								0							SO:0001583	missense			ENST00000568954.1	1	1	hg19	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667761	0.67814	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.26067	1.76;1.76;1.76	6.03	6.03	0.97812	.	0.047074	0.85682	D	0.000000	T	0.52933	0.1765	M	0.80847	2.515	0.45528	D	0.998486	P;D	0.69078	0.949;0.997	P;D	0.65874	0.675;0.939	T	0.58132	-0.7690	10	0.87932	D	0	-20.5139	15.7393	0.77876	1.0:0.0:0.0:0.0	.	341;341	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	T	148;341;341;341;341	ENSP00000353610:I341T;ENSP00000348611:I341T;ENSP00000377159:I341T	ENSP00000299971:I148T	I	-	2	0	PHLPP2	70270808	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.079000	0.94032	2.308000	0.77769	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	1	0	1	65	274	0	72	1	5.993135e-01	4	6	0	72	2		0	0	0	0	0	2	1	1	63	266	0	72	2								-20.000000	1	1	121412	3	35	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOT2	89941	broad.mit.edu	37	16	718508	718508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:718508G>T	ENST00000315082.4	+	3	231	c.117G>T	c.(115-117)gaG>gaT	p.E39D	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2			13		Hepatocellular(780;0.0218)			GCGCGGAGGAGATCACCATCC	0.761000																								0							SO:0001583	missense			ENST00000315082.4	1	1	hg19	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095509	0.36952	.	.	ENSG00000140983	ENST00000315082	T	0.77229	-1.08	3.91	3.91	0.45181	MIRO (1);	0.000000	0.85682	U	0.000000	D	0.82637	0.5080	M	0.63428	1.95	0.49130	D	0.999752	D	0.63880	0.993	P	0.61940	0.896	D	0.83593	0.0124	10	0.72032	D	0.01	-9.6593	8.9251	0.35634	0.1049:0.0:0.8951:0.0	.	39	Q8IXI1	MIRO2_HUMAN	D	39	ENSP00000321971:E39D	ENSP00000321971:E39D	E	+	3	2	RHOT2	658509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.973000	0.56845	1.744000	0.51775	0.306000	0.20318	GAG		TCGA-IB-7651-01A-11D-2154-08	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	1	0	0	47	194	0	41	1	1	45	76	0	41	2		0	0	0	0	0	2	1	1	46	193	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOT2	89941	broad.mit.edu	37	16	720170	720170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:720170G>A	ENST00000315082.4	+	6	438	c.324G>A	c.(322-324)ggG>ggA	p.G108G	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2			13		Hepatocellular(780;0.0218)			CCACGCAGGGGCCCAGGTAAT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000315082.4	1	1	hg19	CCDS10417.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	1	0	1	54	262	0	58	1	1	37	128	0	58	2		0	0	0	0	0	2	1	1	54	260	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHODH	1723	broad.mit.edu	37	16	72055168	72055168	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72055168G>A	ENST00000219240.4	+	5	684	c.663G>A	c.(661-663)cgG>cgA	p.R221R	DHODH_ENST00000572887.1_Silent_p.R221R|DHODH_ENST00000573922.1_Intron	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)			10		Ovarian(137;0.125)		Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CCGGGCTGCGGAGCCTTCAGG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000219240.4	0	1	hg19	CCDS42192.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	14	98	0	16	1	6.555556e-01	5	12	0	16	2		0	0	0	0	0	2	1	9.997513e-01	14	93	0	16	2								-19.998970	1	1	120916	1	31	1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.860000	1.000000	1.000000	0.991731	0.990000	1	9.900000e-01	1
RHOT2	89941	broad.mit.edu	37	16	721082	721082	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721082G>T	ENST00000315082.4	+	11	862		c.e11-1			NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2			13		Hepatocellular(780;0.0218)			TCTCGGTGCAGGTTTCCTCTT	0.677000																								0							SO:0001630	splice_region_variant			ENST00000315082.4	0	1	hg19	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437089	0.25900	.	.	ENSG00000140983	ENST00000315082	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6718	0.88220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHOT2	661083	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	9.477000	0.97925	2.520000	0.84964	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	0	0	0	11	421	0	58	0	1.169085e-01	0	21	0	58	2		0	0	0	0	0	2	1	9.981277e-01	11	410	0	58	2								-10.147080	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.340000	0.170000	1.000000	0.300000	0.445562	0.340000	0	2.400000e-01	1
HPR	3250	broad.mit.edu	37	16	72110289	72110289	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72110289C>T	ENST00000540303.2	+	5	388	c.356C>T	c.(355-357)gCt>gTt	p.A119V	HPR_ENST00000228226.8_Missense_Mutation_p.A156V|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A119V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein			20		Ovarian(137;0.125)			CCCTGGCAGGCTAAGATGGTT	0.532000																								0							SO:0001583	missense			ENST00000540303.2	1	1	hg19	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	9.882	1.201811	0.22121	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.91577	-2.87;-2.87;-2.87	2.46	1.32	0.21799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.066639	0.56097	D	0.000022	D	0.87184	0.6114	N	0.19112	0.55	0.40059	D	0.97587	D	0.71674	0.998	D	0.70227	0.968	T	0.82598	-0.0378	10	0.26408	T	0.33	.	4.0998	0.10009	0.0:0.4798:0.3603:0.1599	.	119	P00739	HPTR_HUMAN	V	119;119;156	ENSP00000349451:A119V;ENSP00000441828:A119V;ENSP00000228226:A156V	ENSP00000228226:A156V	A	+	2	0	HP	70667790	0.931000	0.31567	0.997000	0.53966	0.236000	0.25371	1.823000	0.39062	1.381000	0.46364	0.194000	0.17425	GCT		TCGA-IB-7651-01A-11D-2154-08	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	1	0	1	59	203	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	1	52	191	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX38	9785	broad.mit.edu	37	16	72138495	72138495	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72138495T>C	ENST00000268482.3	+	15	2630	c.2121T>C	c.(2119-2121)cgT>cgC	p.R707R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38			48		Ovarian(137;0.125)			TCCCTGGCCGTACCTTCCCTG	0.547000													Melanoma(97;711 1442 7855 13832 28836)											0							SO:0001819	synonymous_variant			ENST00000268482.3	1	1	hg19	CCDS10907.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	1	0	1	136	542	0	116	1	1	41	94	0	116	2		0	0	0	0	0	2	1	1	134	529	0	115	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX38	9785	broad.mit.edu	37	16	72141387	72141387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72141387G>A	ENST00000268482.3	+	20	3258	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38			48		Ovarian(137;0.125)			CCCGCCCCCGGAGGACAACAT	0.632000													Melanoma(97;711 1442 7855 13832 28836)											0							SO:0001583	missense			ENST00000268482.3	1	1	hg19	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043627	0.55003	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02525	4.26;4.26	5.43	5.43	0.79202	.	0.063541	0.64402	D	0.000007	T	0.03520	0.0101	L	0.28054	0.825	0.58432	D	0.999999	B;B	0.21688	0.049;0.059	B;B	0.17098	0.016;0.017	T	0.56312	-0.8000	10	0.34782	T	0.22	.	19.028	0.92941	0.0:0.0:1.0:0.0	.	229;917	B4DVG8;Q92620	.;PRP16_HUMAN	K	917;229	ENSP00000268482:E917K;ENSP00000437898:E229K	ENSP00000268482:E917K	E	+	1	0	DHX38	70698888	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	4.590000	0.61013	2.825000	0.97269	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	1	0	1	46	232	0	57	1	1	39	95	0	57	2		0	0	0	0	0	2	1	1	46	230	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.993938	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOT2	89941	broad.mit.edu	37	16	721923	721923	+	Missense_Mutation	SNP	C	C	T	rs113238749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721923C>T	ENST00000315082.4	+	13	1132	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2			13		Hepatocellular(780;0.0218)			CCCAGCAGCGCCCTGGGGCCC	0.677000																								0							SO:0001583	missense			ENST00000315082.4	1	1	hg19	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001027	0.93227	0.0	1.16E-4	ENSG00000140983	ENST00000315082	T	0.09073	3.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11155	-1.0599	10	0.72032	D	0.01	-3.178	17.5876	0.87987	0.0:1.0:0.0:0.0	.	340	Q8IXI1	MIRO2_HUMAN	S	340	ENSP00000321971:P340S	ENSP00000321971:P340S	P	+	1	0	RHOT2	661924	1.000000	0.71417	0.974000	0.42286	0.702000	0.40608	7.697000	0.84279	2.503000	0.84419	0.456000	0.33151	CCC		TCGA-IB-7651-01A-11D-2154-08	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	1	0	0	128	589	0	105	1	1	46	111	0	105	2		0	0	0	0	0	2	1	1	124	573	0	102	2								-20.000000	1	0	120834	1	27	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOT2	89941	broad.mit.edu	37	16	721946	721946	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721946C>T	ENST00000315082.4	+	13	1155	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2			13		Hepatocellular(780;0.0218)			AGCTCCCACGCACAGTCCGCA	0.701000																								0							SO:0001819	synonymous_variant			ENST00000315082.4	1	1	hg19	CCDS10417.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	1	0	0	128	568	0	92	1	1	56	104	0	92	2		0	0	0	0	0	2	1	1	125	559	0	91	2								-20.000000	1	0	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFHX3	463	broad.mit.edu	37	16	72821372	72821372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821372C>T	ENST00000268489.5	-	10	11475	c.10803G>A	c.(10801-10803)tcG>tcA	p.S3601S	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2687S|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			GGGCGGCGGCCGACGGGGGAG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000268489.5	1	1	hg19	CCDS10908.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	0	64	295	0	51	1	9.797929e-01	8	23	0	51	2		0	0	0	0	0	2	1	1	56	279	0	50	2								-3.043130	1	0	0	0		1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72821392	72821392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821392C>T	ENST00000268489.5	-	10	11455	c.10783G>A	c.(10783-10785)Gac>Aac	p.D3595N	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			GGGGGGCTGTCGTTTGAGTGA	0.642000																								0							SO:0001583	missense			ENST00000268489.5	1	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173645	0.38413	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.29142	1.58;1.58	3.95	3.95	0.45737	.	0.000000	0.49305	D	0.000151	T	0.10035	0.0246	N	0.01048	-1.04	0.44092	D	0.996856	B	0.15473	0.013	B	0.04013	0.001	T	0.24905	-1.0147	10	0.02654	T	1	.	16.3601	0.83259	0.0:1.0:0.0:0.0	.	3595	Q15911	ZFHX3_HUMAN	N	3595;2681	ENSP00000268489:D3595N;ENSP00000438926:D2681N	ENSP00000268489:D3595N	D	-	1	0	ZFHX3	71378893	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.800000	0.27042	1.914000	0.55421	0.557000	0.71058	GAC		TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	0	169	426	0	87	1	9.987685e-01	4	24	0	87	2		0	0	0	0	0	2	1	1	163	404	0	86	2								-9.712408	1	0	0	0		1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72821414	72821414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821414C>T	ENST00000268489.5	-	10	11433	c.10761G>A	c.(10759-10761)tcG>tcA	p.S3587S	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2673S|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			CGGCAGACTGCGAGGTAGATG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000268489.5	1	1	hg19	CCDS10908.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	0	37	808	0	131	0	3.258672e-01	1	25	0	131	2		0	0	0	0	0	2	1	1	36	781	0	130	2								-4.544630	1	0	121412	2	36	1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72822080	72822080	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822080C>T	ENST00000268489.5	-	10	10767	c.10095G>A	c.(10093-10095)caG>caA	p.Q3365Q	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.Q2451Q|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			GCTGGTATTGCTGGTACTGCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000268489.5	1	1	hg19	CCDS10908.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1	58	281	0	55	0	9.924483e-01	1	38	0	55	2		0	0	0	0	0	2	1	1	55	276	0	55	2								-20.000000	1	1	121378	1	20	1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72822566	72822566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822566C>T	ENST00000268489.5	-	10	10281	c.9609G>A	c.(9607-9609)caG>caA	p.Q3203Q	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.Q2289Q|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			cctgtggttgctgctgctgct	0.652000																								0							SO:0001819	synonymous_variant			ENST00000268489.5	1	0	hg19	CCDS10908.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	0	1	324	804	1	126	1	9.991022e-01	8	27	1	126	3		0	0	0	0	0	2	1	1	308	567	0	86	2								-1.500898	0	0	0	0		1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72822708	72822708	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822708C>T	ENST00000268489.5	-	10	10139	c.9467G>A	c.(9466-9468)aGc>aAc	p.S3156N	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			AACAGTTGTGCTGGGCAGACC	0.562000																								0							SO:0001583	missense			ENST00000268489.5	1	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259301	0.39995	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74737	-0.87;-0.86	5.89	5.89	0.94794	.	0.209166	0.32753	N	0.005690	T	0.64227	0.2579	N	0.19112	0.55	0.52099	D	0.999941	B	0.27559	0.181	B	0.21360	0.034	T	0.60611	-0.7229	10	0.49607	T	0.09	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	3156	Q15911	ZFHX3_HUMAN	N	3156;2242	ENSP00000268489:S3156N;ENSP00000438926:S2242N	ENSP00000268489:S3156N	S	-	2	0	ZFHX3	71380209	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.277000	0.51654	2.788000	0.95919	0.557000	0.71058	AGC		TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1	150	810	0	164	1	9.865157e-01	4	34	0	164	2		0	0	0	0	0	2	1	1	148	801	0	163	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72828120	72828120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72828120C>A	ENST00000268489.5	-	9	9133	c.8461G>T	c.(8461-8463)Gtt>Ttt	p.V2821F	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			TTTAGATTAACTGAGGACATG	0.458000																								0							SO:0001583	missense			ENST00000268489.5	1	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363561	0.24684	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74526	-0.85;-0.83	5.96	5.96	0.96718	.	0.000000	0.45126	D	0.000396	D	0.83004	0.5160	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.82592	-0.0381	10	0.59425	D	0.04	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2821	Q15911	ZFHX3_HUMAN	F	2821;1907	ENSP00000268489:V2821F;ENSP00000438926:V1907F	ENSP00000268489:V2821F	V	-	1	0	ZFHX3	71385621	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.849000	0.62882	2.823000	0.97156	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1	35	529	0	89	1	5.524873e-01	4	25	0	89	2		0	0	0	0	0	2	1	1	35	514	0	88	2								-7.532885	1	1	0	0		1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72829446	72829446	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829446T>G	ENST00000268489.5	-	9	7807	c.7135A>C	c.(7135-7137)Agc>Cgc	p.S2379R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1465R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			CAGGATGAGCTGGTAGGCGTC	0.547000																								0							SO:0001583	missense			ENST00000268489.5	0	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743710	0.49151	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74315	-0.83;-0.81	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000013	T	0.57989	0.2091	N	0.14661	0.345	0.51482	D	0.999925	B	0.14438	0.01	B	0.08055	0.003	T	0.54248	-0.8322	10	0.16896	T	0.51	.	15.5119	0.75789	0.0:0.0:0.0:1.0	.	2379	Q15911	ZFHX3_HUMAN	R	2379;1465	ENSP00000268489:S2379R;ENSP00000438926:S1465R	ENSP00000268489:S2379R	S	-	1	0	ZFHX3	71386947	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.758000	0.68776	2.063000	0.61619	0.459000	0.35465	AGC		TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	0	0	10	617	0	122	0	5.879858e-02	0	22	0	122	2		0	0	0	0	0	2	1	9.966807e-01	10	608	0	122	2								-7.805124	1	0	0	0		1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72829708	72829708	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829708C>A	ENST00000268489.5	-	9	7545	c.6873G>T	c.(6871-6873)caG>caT	p.Q2291H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			GTCGGGCATTCTGAAACCACA	0.453000																								0							SO:0001583	missense			ENST00000268489.5	1	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246188	0.39697	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.97688	-4.49;-4.49	5.65	0.87	0.19102	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47852	D	0.000215	D	0.99077	0.9683	H	0.98577	4.27	0.53688	D	0.99997	D	0.69078	0.997	D	0.85130	0.997	D	0.98597	1.0657	10	0.87932	D	0	.	10.672	0.45764	0.0:0.7574:0.0:0.2426	.	2291	Q15911	ZFHX3_HUMAN	H	2291;1377	ENSP00000268489:Q2291H;ENSP00000438926:Q1377H	ENSP00000268489:Q2291H	Q	-	3	2	ZFHX3	71387209	0.848000	0.29623	1.000000	0.80357	0.998000	0.95712	-0.028000	0.12350	0.189000	0.20188	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	0	1	181	936	0	186	0	9.697198e-01	1	30	0	186	2		0	0	0	0	0	2	1	1	177	922	0	186	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
ZFHX3	463	broad.mit.edu	37	16	72830247	72830247	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72830247C>A	ENST00000268489.5	-	9	7006	c.6334G>T	c.(6334-6336)Gct>Tct	p.A2112S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			GGTAGCTGAGCCGGCAAGGTC	0.642000																								0							SO:0001583	missense			ENST00000268489.5	1	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	6.497	0.459948	0.12342	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73469	-0.75;-0.74	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000135	T	0.59783	0.2219	N	0.12182	0.205	0.43756	D	0.996261	B	0.14438	0.01	B	0.13407	0.009	T	0.54214	-0.8327	10	0.20046	T	0.44	.	19.1839	0.93635	0.0:1.0:0.0:0.0	.	2112	Q15911	ZFHX3_HUMAN	S	2112;1198	ENSP00000268489:A2112S;ENSP00000438926:A1198S	ENSP00000268489:A2112S	A	-	1	0	ZFHX3	71387748	0.993000	0.37304	0.314000	0.25224	0.145000	0.21501	3.019000	0.49635	2.523000	0.85059	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1	82	323	0	61	1	9.520822e-01	4	18	0	61	2		0	0	0	0	0	2	1	1	77	320	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFHX3	463	broad.mit.edu	37	16	72831208	72831208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72831208C>A	ENST00000268489.5	-	9	6045	c.5373G>T	c.(5371-5373)caG>caT	p.Q1791H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			GCTGCTGCTGCTGTAGTTGCA	0.572000																								0							SO:0001583	missense			ENST00000268489.5	1	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492633	0.26774	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.86164	-2.08;-1.95	6.17	3.21	0.36854	.	0.000000	0.47455	D	0.000230	D	0.89760	0.6808	L	0.49126	1.545	0.54753	D	0.999988	D	0.71674	0.998	D	0.79784	0.993	D	0.88453	0.3050	10	0.52906	T	0.07	.	9.4691	0.38831	0.0:0.6739:0.0:0.3261	.	1791	Q15911	ZFHX3_HUMAN	H	1791;877	ENSP00000268489:Q1791H;ENSP00000438926:Q877H	ENSP00000268489:Q1791H	Q	-	3	2	ZFHX3	71388709	0.938000	0.31826	1.000000	0.80357	0.985000	0.73830	0.133000	0.15912	0.949000	0.37715	-0.150000	0.13652	CAG		TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1	72	436	0	106	0	8.704609e-01	0	24	0	106	2		0	0	0	0	0	2	1	1	70	431	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFHX3	463	broad.mit.edu	37	16	72992964	72992964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72992964C>T	ENST00000268489.5	-	2	1753	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			AAACTGTGTCCGGGGCCTATG	0.517000																								0							SO:0001583	missense			ENST00000268489.5	1	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316310	0.40996	.	.	ENSG00000140836	ENST00000268489	T	0.74632	-0.86	4.92	4.92	0.64577	.	0.000000	0.47455	D	0.000224	T	0.82001	0.4942	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.82141	-0.0604	10	0.46703	T	0.11	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	361	Q15911	ZFHX3_HUMAN	R	361	ENSP00000268489:G361R	ENSP00000268489:G361R	G	-	1	0	ZFHX3	71550465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.448000	0.82819	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1	172	503	0	105	0	9.238378e-01	0	15	0	105	2		0	0	0	0	0	2	1	1	170	499	0	103	2								-6.230468	1	1	121394	3	37	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR24	84219	broad.mit.edu	37	16	734755	734755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:734755G>A	ENST00000248142.6	-	13	2741	c.2742C>T	c.(2740-2742)ggC>ggT	p.G914G	JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Silent_p.G784G|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24			19		Hepatocellular(780;0.0218)			CGCAGAGGTGGCCGCAGCCTG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000248142.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	WDR24-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	11	46	0	16	1	8.335094e-01	6	10	0	16	2		0	0	0	0	0	2	1	9.986403e-01	9	46	0	16	2								-19.985040	1	1	119536	1	16	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999270	0.990000	1	9.900000e-01	1
WDR24	84219	broad.mit.edu	37	16	737061	737061	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737061T>A	ENST00000248142.6	-	7	1404	c.1405A>T	c.(1405-1407)Aac>Tac	p.N469Y	JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.N339Y|JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24			19		Hepatocellular(780;0.0218)			CCCTCAGGGTTGGCGCGCTCG	0.706000																								0							SO:0001583	missense			ENST00000248142.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	19.02	3.745631	0.69418	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.79554	-1.28;0.15	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.89353	0.3662	10	0.72032	D	0.01	-23.566	13.5165	0.61543	0.0:0.0:0.0:1.0	.	339	Q96S15-2	.	Y	469;339	ENSP00000248142:N469Y;ENSP00000293883:N339Y	ENSP00000248142:N469Y	N	-	1	0	WDR24	677062	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.142000	0.77339	2.033000	0.60031	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	WDR24-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	24	99	0	12	0	1.831857e-01	0	4	0	12	2		0	0	0	0	0	2	1	9.999998e-01	23	95	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
WDR24	84219	broad.mit.edu	37	16	737187	737187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737187G>A	ENST00000248142.6	-	7	1278	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Nonsense_Mutation_p.R297*|JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24			19		Hepatocellular(780;0.0218)			GTGACGTCTCGGTGTTCCTCA	0.637000																								0							SO:0001587	stop_gained			ENST00000248142.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	41	8.683699	0.98914	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	.	.	.	4.55	4.55	0.56014	.	0.067073	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-16.6398	10.3454	0.43903	0.0:0.0:0.7036:0.2964	.	.	.	.	X	427;297	.	ENSP00000248142:R427X	R	-	1	2	WDR24	677188	1.000000	0.71417	0.993000	0.49108	0.424000	0.31475	6.039000	0.70972	2.513000	0.84729	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	WDR24-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	58	279	0	65	1	9.623250e-01	5	22	0	65	2		0	0	0	0	0	2	1	1	57	274	0	64	2								-2.823617	1	1	121372	2	34	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR24	84219	broad.mit.edu	37	16	739280	739280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:739280G>A	ENST00000248142.6	-	3	546	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	WDR24_ENST00000293883.4_Missense_Mutation_p.R121C|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24			19		Hepatocellular(780;0.0218)			TTTACCGTGCGCTTGTGTTCT	0.597000																								0							SO:0001583	missense			ENST00000248142.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	33	5.223778	0.95139	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.60548	0.18;0.18	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76748	-0.2845	10	0.56958	D	0.05	-15.7029	17.5824	0.87972	0.0:0.0:1.0:0.0	.	121	Q96S15-2	.	C	183;121	ENSP00000248142:R183C;ENSP00000293883:R121C	ENSP00000248142:R183C	R	-	1	0	WDR24	679281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.132000	0.94455	2.391000	0.81399	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	WDR24-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	43	216	0	48	1	9.958024e-01	5	40	0	48	2		0	0	0	0	0	2	1	1	43	214	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLG1	2734	broad.mit.edu	37	16	74524940	74524940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74524940G>A	ENST00000422840.2	-	8	1407	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1			57					TTCTCCCCTCGAACTACTTTC	0.493000																								0							SO:0001587	stop_gained			ENST00000422840.2	0	1	hg19	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	38	6.850222	0.97885	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.977	16.2296	0.82322	0.0:0.0:0.8664:0.1336	.	.	.	.	X	470;459;470	.	ENSP00000205061:R470X	R	-	1	2	GLG1	73082441	1.000000	0.71417	0.941000	0.38009	0.939000	0.58152	6.367000	0.73099	1.384000	0.46424	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	1	0	1	105	450	0	103	1	1	5	479	0	103	2		0	0	0	0	0	2	1	1	104	442	0	101	2								-3.282411	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3			26					GCATAAAGGACGACAATGTCA	0.458000																								0							SO:0001583	missense			ENST00000361070.4	1	1	hg19	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398256	0.62177	.	.	ENSG00000168411	ENST00000361070	T	0.18338	2.22	5.93	5.93	0.95920	.	0.214399	0.39759	N	0.001263	T	0.24431	0.0592	M	0.64260	1.97	0.50039	D	0.999847	P	0.51791	0.948	B	0.41813	0.367	T	0.01111	-1.1448	10	0.39692	T	0.17	-17.5372	20.328	0.98708	0.0:1.0:0.0:0.0	.	341	Q6PCD5	RFWD3_HUMAN	I	341	ENSP00000354361:V341I	ENSP00000354361:V341I	V	-	1	0	RFWD3	73235819	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	2.167000	0.42415	2.802000	0.96397	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	1	0	1	182	579	0	123	1	9.999995e-01	27	40	0	123	2		0	0	0	0	0	2	1	1	180	571	0	121	2								-20.000000	1	1	121412	5	39	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLKL	197259	broad.mit.edu	37	16	74709292	74709292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74709292C>T	ENST00000308807.7	-	9	1664	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	MLKL_ENST00000306247.7_Silent_p.S182S	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like			19					TCCCAGAGGACGATTCCAAAG	0.483000																								0							SO:0001583	missense			ENST00000308807.7	1	1	hg19	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802705	0.50315	.	.	ENSG00000168404	ENST00000308807	D	0.93659	-3.26	4.96	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061471	0.64402	N	0.000005	D	0.88040	0.6330	.	.	.	0.33832	D	0.630322	P	0.45348	0.856	B	0.40165	0.321	D	0.88334	0.2970	9	0.23891	T	0.37	-20.2887	9.8095	0.40815	0.0:0.9015:0.0:0.0985	.	401	Q8NB16	MLKL_HUMAN	I	401	ENSP00000308351:V401I	ENSP00000308351:V401I	V	-	1	0	MLKL	73266793	0.995000	0.38212	0.999000	0.59377	0.946000	0.59487	1.105000	0.31086	1.398000	0.46701	0.498000	0.49722	GTC		TCGA-IB-7651-01A-11D-2154-08	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	1	0	1	113	348	0	73	1	9.999995e-01	13	54	0	73	2		0	0	0	0	0	2	1	1	108	342	0	73	2								-20.000000	1	0	121412	1	35	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNRF1	84937	broad.mit.edu	37	16	75138699	75138699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75138699G>T	ENST00000335325.4	+	3	1180	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000320619.6_Missense_Mutation_p.D231Y	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase			1					GCTGACTAAAGACGCGGGTGA	0.587000																								0							SO:0001583	missense			ENST00000335325.4	1	1	hg19	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880101	0.91740	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.52983	0.64	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);	0.045801	0.85682	D	0.000000	T	0.69495	0.3117	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.988;0.994	T	0.68398	-0.5419	10	0.87932	D	0	-16.4321	20.8794	0.99867	0.0:0.0:1.0:0.0	.	180;231;180	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	Y	231;180	ENSP00000335091:D180Y	ENSP00000323362:D231Y	D	+	1	0	ZNRF1	73696200	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	9.672000	0.98629	2.941000	0.99782	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2	1	0	1	11	55	0	17	1	9.999954e-01	38	107	0	17	2		0	0	0	0	0	2	1	9.977791e-01	10	49	0	17	2								-19.866080	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999102	0.990000	1	9.900000e-01	1
BCAR1	9564	broad.mit.edu	37	16	75263526	75263526	+	Silent	SNP	G	G	A	rs144964852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75263526G>A	ENST00000162330.5	-	7	2622	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	BCAR1_ENST00000418647.3_Silent_p.A878A|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000538440.2_Silent_p.A832A|BCAR1_ENST00000393420.6_Silent_p.A850A|BCAR1_ENST00000546196.1_Silent_p.A803A|BCAR1_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.A850A	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1			35					GCAAGGCAGCGGCCTTGGTGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000162330.5	0	1	hg19	CCDS10915.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	1	0	1	17	145	0	21	1	9.999994e-01	21	216	0	21	2		0	0	0	0	0	2	1	9.999728e-01	17	144	0	21	2								-19.999990	1	1	121276	2	32	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.830000	1.000000	1.000000	0.988644	0.990000	1	9.900000e-01	1
BCAR1	9564	broad.mit.edu	37	16	75267776	75267776	+	Missense_Mutation	SNP	G	G	A	rs142603608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75267776G>A	ENST00000162330.5	-	6	2194	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W|BCAR1_ENST00000546196.1_Missense_Mutation_p.R661W|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1			35					TTGCCCTGCCGCGTGATGCTG	0.642000																								0							SO:0001583	missense			ENST00000162330.5	1	1	hg19	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994052	0.74703	0.0	2.33E-4	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.34	4.37	0.52481	CAS family, DUF3513 (1);	0.125811	0.50627	D	0.000115	T	0.41213	0.1149	L	0.43152	1.355	0.40525	D	0.980876	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.99;0.997;0.995;0.995;0.997;0.985;0.997;0.994	T	0.33979	-0.9847	10	0.72032	D	0.01	-47.822	11.3366	0.49507	0.0:0.0:0.67:0.33	.	708;542;736;688;708;708;690;690;480	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	W	690;708;708;690;736;542;708;688;661	ENSP00000162330:R690W;ENSP00000377074:R708W;ENSP00000392708:R708W;ENSP00000443841:R690W;ENSP00000391669:R736W;ENSP00000440370:R542W;ENSP00000377072:R708W;ENSP00000440415:R688W;ENSP00000442161:R661W	ENSP00000162330:R690W	R	-	1	2	BCAR1	73825277	0.987000	0.35691	1.000000	0.80357	0.839000	0.47603	1.029000	0.30140	1.368000	0.46115	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	1	0	1	13	67	0	21	1	1	60	190	0	21	2		0	0	0	0	0	2	1	9.996603e-01	13	66	0	21	2								-19.998530	1	1	121298	11	34	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999443	0.990000	1	9.900000e-01	1
BCAR1	9564	broad.mit.edu	37	16	75269582	75269582	+	Silent	SNP	G	G	A	rs61729594	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75269582G>A	ENST00000162330.5	-	5	1341	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	BCAR1_ENST00000418647.3_Silent_p.V451V|BCAR1_ENST00000538440.2_Silent_p.V405V|BCAR1_ENST00000393420.6_Silent_p.V423V|BCAR1_ENST00000546196.1_Silent_p.V376V|BCAR1_ENST00000393422.2_Silent_p.V423V|BCAR1_ENST00000542031.2_Silent_p.V403V|BCAR1_ENST00000535626.2_Silent_p.V257V|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.V423V	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1			35					CACCACTGTCGACCACGCCAC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000162330.5	1	0	hg19	CCDS10915.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	1	0	1	55	149	0	30	1	1	68	127	0	30	2		0	0	0	0	0	2	1	1	54	147	0	30	2								-2.526011	1	1	121178	238	52	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCAR1	9564	broad.mit.edu	37	16	75276721	75276721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75276721G>A	ENST00000162330.5	-	2	406	c.280C>T	c.(280-282)Cct>Tct	p.P94S	BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S|BCAR1_ENST00000546196.1_Missense_Mutation_p.P65S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1			35					GAGGCCGGAGGCGCTGGGGCA	0.677000																								0							SO:0001583	missense			ENST00000162330.5	1	1	hg19	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.405442	0.00195	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.0	2.74	0.32292	.	0.733051	0.11840	N	0.524401	T	0.73337	0.3574	L	0.34521	1.04	0.20403	N	0.999903	B;P;D;B;P;B;B	0.67145	0.136;0.948;0.996;0.033;0.492;0.007;0.05	B;P;D;B;B;B;B	0.78314	0.02;0.68;0.991;0.04;0.112;0.007;0.02	T	0.61058	-0.7139	10	0.09843	T	0.71	-18.0329	6.4284	0.21782	0.2322:0.0:0.7678:0.0	.	112;140;92;94;112;94;94	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	94;112;112;94;140;94;92;65	ENSP00000162330:P94S;ENSP00000377074:P112S;ENSP00000392708:P112S;ENSP00000443841:P94S;ENSP00000391669:P140S;ENSP00000377072:P94S;ENSP00000440415:P92S;ENSP00000442161:P65S	ENSP00000162330:P94S	P	-	1	0	BCAR1	73834222	0.223000	0.23663	0.144000	0.22314	0.035000	0.12851	0.902000	0.28459	1.929000	0.55896	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	1	0	1	91	384	0	52	1	1	42	126	0	52	2		0	0	0	0	0	2	1	1	85	373	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM170A	124491	broad.mit.edu	37	16	75498407	75498407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75498407C>A	ENST00000561878.1	-	1	189	c.92G>T	c.(91-93)gGg>gTg	p.G31V	TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000357613.4_Missense_Mutation_p.G31V|TMEM170A_ENST00000567796.1_Intron|RP11-77K12.1_ENST00000561887.1_5'UTR|TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000569540.1_5'Flank|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V	NM_145254.1	NP_660297.1	Q8WVE7	T170A_HUMAN	transmembrane protein 170A			1					GCACAGGGTCCCGTTGCCCAC	0.746000																								0							SO:0001583	missense			ENST00000561878.1	1	1	hg19	CCDS10917.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441336	0.63067	.	.	ENSG00000166822	ENST00000357613	.	.	.	5.5	4.55	0.56014	.	0.196110	0.53938	D	0.000044	T	0.29882	0.0747	N	0.12182	0.205	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.12502	-1.0545	9	0.15952	T	0.53	-6.9541	9.2532	0.37568	0.0:0.9036:0.0:0.0964	.	31;31	Q8WVE7;Q8WVE7-2	T170A_HUMAN;.	V	31	.	ENSP00000350230:G31V	G	-	2	0	TMEM170A	74055908	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	0.978000	0.29488	2.593000	0.87608	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	TMEM170A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269030.2	1	0	0	42	126	0	14	1	9.994405e-01	11	27	0	14	2		0	0	0	0	0	2	1	1	42	122	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST6	4166	broad.mit.edu	37	16	75512732	75512732	+	Missense_Mutation	SNP	G	G	T	rs144301922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75512732G>T	ENST00000332272.4	-	3	1174	c.995C>A	c.(994-996)gCc>gAc	p.A332D	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A332D	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6			17					ATGGCGCCAGGCCTGGGAGAC	0.642000																								0							SO:0001583	missense			ENST00000332272.4	1	1	hg19	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225761	0.79576	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	T;T	0.79554	-1.28;-1.28	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	M	0.89287	3.02	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.89635	0.3858	10	0.27082	T	0.32	.	15.563	0.76266	0.0:0.0:1.0:0.0	.	332	Q9GZX3	CHST6_HUMAN	D	332	ENSP00000328983:A332D;ENSP00000375079:A332D	ENSP00000328983:A332D	A	-	2	0	CHST6	74070233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.740000	0.84986	2.278000	0.76064	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	0	0	0	18	498	0	80	0	6.089739e-02	0	11	0	80	2		0	0	0	0	0	2	1	9.999805e-01	18	493	0	80	2								-16.765380	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.450000	0.270000	0.670000	0.450000	0.465254	0.450000	0	3.500000e-01	5.700000e-01
CHST6	4166	broad.mit.edu	37	16	75513648	75513648	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75513648A>T	ENST00000332272.4	-	3	258	c.79T>A	c.(79-81)Tcc>Acc	p.S27T	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.S27T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6			17					CCTGGCCGGGAAACCAGAAAG	0.687000																								0							SO:0001583	missense			ENST00000332272.4	0	1	hg19	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339809	0.24339	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.96334	-3.98;-3.98	5.01	2.62	0.31277	.	1.219520	0.06151	N	0.674135	D	0.91841	0.7418	L	0.29908	0.895	0.33931	D	0.642091	B	0.14438	0.01	B	0.08055	0.003	D	0.85804	0.1375	10	0.18276	T	0.48	.	7.2899	0.26360	0.7159:0.144:0.0:0.1401	.	27	Q9GZX3	CHST6_HUMAN	T	27	ENSP00000328983:S27T;ENSP00000375079:S27T	ENSP00000328983:S27T	S	-	1	0	CHST6	74071149	0.375000	0.25089	0.997000	0.53966	0.293000	0.27360	1.087000	0.30865	1.871000	0.54225	0.482000	0.46254	TCC		TCGA-IB-7651-01A-11D-2154-08	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	1	0	0	27	75	0	8	1	4.069209e-01	3	2	0	8	2		0	0	0	0	0	2	1	1	27	73	0	8	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST5	23563	broad.mit.edu	37	16	75563056	75563056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563056C>T	ENST00000336257.3	-	3	2621	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S415S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5			24					CTCAGTCAGGCGATGCCCAGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000336257.3	1	1	hg19	CCDS10919.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	1	0	0	10	178	0	36	0	1.990755e-02	0	4	0	36	2		0	0	0	0	0	2	1	9.969580e-01	10	176	0	35	2								-3.155181	1	1	121232	1	26	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.690000	0.360000	1.000000	1.000000	0.712432	0.690000	0	5.100000e-01	9.300000e-01
CHST5	23563	broad.mit.edu	37	16	75563625	75563625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563625C>T	ENST00000336257.3	-	3	2052	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V226M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5			24					ACCAGGTGCACGATGCGCAGG	0.697000																								0							SO:0001583	missense			ENST00000336257.3	1	1	hg19	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688457	0.29962	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.29142	1.58;1.58	2.84	1.87	0.25490	Sulfotransferase domain (1);	0.204220	0.40222	N	0.001141	T	0.47563	0.1452	M	0.79805	2.47	0.40904	D	0.984174	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.49224	-0.8962	10	0.52906	T	0.07	.	3.652	0.08206	0.0:0.6029:0.0:0.3971	.	226;220	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	220;226	ENSP00000338783:V220M;ENSP00000441220:V226M	ENSP00000338783:V220M	V	-	1	0	CHST5	74121126	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.279000	0.43435	1.583000	0.49898	0.313000	0.20887	GTG		TCGA-IB-7651-01A-11D-2154-08	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	1	0	1	119	596	0	80	0	0	1	0	0	80	2		0	0	0	0	0	2	1	1	118	589	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABARAPL2	11345	broad.mit.edu	37	16	75600792	75600792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75600792C>T	ENST00000037243.2	+	2	213	c.77C>T	c.(76-78)cCc>cTc	p.P26L	GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000568455.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2			2					GCGAAATATCCCGACAGGGTT	0.627000																								0							SO:0001583	missense			ENST00000037243.2	1	1	hg19	CCDS10921.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726844	0.96847	.	.	ENSG00000034713	ENST00000037243	T	0.53857	0.6	5.4	5.4	0.78164	.	0.048229	0.85682	N	0.000000	T	0.67702	0.2921	M	0.88450	2.955	0.80722	D	1	B	0.28082	0.2	B	0.37731	0.257	T	0.71484	-0.4579	10	0.72032	D	0.01	-3.1656	17.7527	0.88439	0.0:1.0:0.0:0.0	.	26	P60520	GBRL2_HUMAN	L	26	ENSP00000037243:P26L	ENSP00000037243:P26L	P	+	2	0	GABARAPL2	74158293	1.000000	0.71417	0.962000	0.40283	0.881000	0.50899	7.115000	0.77110	2.544000	0.85801	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269029.1	1	0	1	68	228	0	77	1	1	232	500	0	77	2		0	0	0	0	0	2	1	1	66	226	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAT1	23536	broad.mit.edu	37	16	75642133	75642133	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75642133G>A	ENST00000307921.3	-	9	1423	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1			19					TTGCCTGAAGGCTTCCAATTG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000307921.3	1	1	hg19	CCDS10922.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	1	0	0	230	1026	0	225	1	9.998032e-01	18	38	0	225	2		0	0	0	0	0	2	1	1	222	981	0	222	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KARS	3735	broad.mit.edu	37	16	75663366	75663366	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75663366T>C	ENST00000302445.3	-	12	1537	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	KARS_ENST00000319410.5_Missense_Mutation_p.T528A|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase			18				L-Lysine(DB00123)	TTCAGCTCAGTATACGCATTG	0.517000																								0							SO:0001583	missense			ENST00000302445.3	1	1	hg19	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	T	33	5.227218	0.95173	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.84442	-1.85;-1.85	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	H	0.94771	3.58	0.80722	D	1	P;D	0.61080	0.928;0.989	P;P	0.62491	0.635;0.903	D	0.95310	0.8411	10	0.87932	D	0	-18.1764	15.0088	0.71533	0.0:0.0:0.0:1.0	.	528;500	Q15046-2;Q15046	.;SYK_HUMAN	A	528;500	ENSP00000325448:T528A;ENSP00000303043:T500A	ENSP00000303043:T500A	T	-	1	0	KARS	74220867	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.013000	0.88655	2.221000	0.72209	0.455000	0.32223	ACT		TCGA-IB-7651-01A-11D-2154-08	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	1	0	0	100	1177	0	215	1	1	73	732	0	215	2		0	0	0	0	0	2	1	1	96	1152	0	214	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.810000	1.000000	1.000000	0.964171	0.990000	1	9.000000e-01	1
TERF2IP	54386	broad.mit.edu	37	16	75690139	75690139	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75690139T>C	ENST00000300086.4	+	3	927	c.830T>C	c.(829-831)aTa>aCa	p.I277T		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein			5					GAAATACATATAACTATGTGT	0.413000																								0							SO:0001583	missense			ENST00000300086.4	1	1	hg19	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519194	0.44866	.	.	ENSG00000166848	ENST00000300086	T	0.50548	0.74	5.02	5.02	0.67125	.	0.456793	0.24128	N	0.041294	T	0.27832	0.0685	N	0.19112	0.55	0.26115	N	0.980632	B	0.13594	0.008	B	0.09377	0.004	T	0.12993	-1.0526	10	0.14656	T	0.56	-9.2054	7.6006	0.28073	0.0:0.0938:0.0:0.9062	.	277	Q9NYB0	TE2IP_HUMAN	T	277	ENSP00000300086:I277T	ENSP00000300086:I277T	I	+	2	0	TERF2IP	74247640	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.165000	0.42396	2.228000	0.72767	0.482000	0.46254	ATA		TCGA-IB-7651-01A-11D-2154-08	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	1	0	1	85	420	0	78	1	1	55	222	0	78	2		0	0	0	0	0	2	1	1	80	414	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTNAP4	85445	broad.mit.edu	37	16	76389355	76389355	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76389355T>G	ENST00000476707.1	+	2	485	c.346T>G	c.(346-348)Ttc>Gtc	p.F116V	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F112V|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.F112V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4			64					CCTCCTGATGTTCAGTGATAG	0.483000																								0							SO:0001583	missense			ENST00000476707.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	22.0	4.235826	0.79800	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.8	4.8	0.61643	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.42420	D	0.000711	D	0.98485	0.9495	.	.	.	0.45883	D	0.998738	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.995;0.992;0.99;1.0	D	0.99285	1.0897	9	0.87932	D	0	.	12.6038	0.56511	0.0:0.0:0.0:1.0	.	88;116;88;113	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	V	112;112;88;116	ENSP00000306893:F112V;ENSP00000439733:F112V;ENSP00000418741:F88V;ENSP00000417628:F116V	ENSP00000306893:F112V	F	+	1	0	CNTNAP4	74946856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.145000	0.66743	0.482000	0.46254	TTC		TCGA-IB-7651-01A-11D-2154-08	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	0	0	0	32	451	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	1	32	439	0	102	2								-8.139774	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.840000	0.590000	1.000000	1.000000	0.847594	0.840000	0	7.100000e-01	1
CNTNAP4	85445	broad.mit.edu	37	16	76483753	76483753	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76483753A>T	ENST00000476707.1	+	6	1217	c.1078A>T	c.(1078-1080)Atg>Ttg	p.M360L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.M356L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4			64					GATCATTGCTATGGTGAGAGT	0.338000																								0							SO:0001583	missense			ENST00000476707.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.39	1.625272	0.28889	.	.	ENSG00000152910	ENST00000307431;ENST00000476707	T;T	0.77877	-1.13;-1.13	5.43	3.1	0.35709	Laminin G domain (1);	0.267039	0.26442	N	0.024349	T	0.56746	0.2006	.	.	.	0.26725	N	0.970691	B;B;B	0.16396	0.008;0.004;0.017	B;B;B	0.19391	0.012;0.017;0.025	T	0.34428	-0.9829	9	0.19590	T	0.45	.	1.6134	0.02698	0.5569:0.1547:0.1396:0.1489	.	360;332;357	E9PDN6;Q96M80;Q9C0A0	.;.;CNTP4_HUMAN	L	356;360	ENSP00000306893:M356L;ENSP00000417628:M360L	ENSP00000306893:M356L	M	+	1	0	CNTNAP4	75041254	0.032000	0.19561	0.033000	0.17914	0.088000	0.18126	1.286000	0.33273	0.447000	0.26695	-0.336000	0.08194	ATG		TCGA-IB-7651-01A-11D-2154-08	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	0	0	1	8	61	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.908313e-01	8	61	0	17	2								-15.106780	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.730000	1.000000	1.000000	0.980856	0.990000	1	9.900000e-01	1
MON1B	22879	broad.mit.edu	37	16	77228783	77228783	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228783C>T	ENST00000248248.3	+	4	1377	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	MON1B_ENST00000545553.1_Silent_p.L197L|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Silent_p.L234L	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B			17					CGTGGCCCGCCTGGATGCTAT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000248248.3	1	1	hg19	CCDS10925.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	1	0	0	121	624	0	135	1	9.999999e-01	29	90	0	135	2		0	0	0	0	0	2	1	1	120	610	0	134	2								-20.000000	1	0	121412	7	43	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MON1B	22879	broad.mit.edu	37	16	77228807	77228807	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228807C>A	ENST00000248248.3	+	4	1401	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	MON1B_ENST00000545553.1_Missense_Mutation_p.L205M|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.L242M	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B			17					TGTCTGCCTGCTGCTGCTTGG	0.637000																								0							SO:0001583	missense			ENST00000248248.3	1	1	hg19	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248251	0.59103	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.53	3.49	0.39957	.	0.145145	0.44688	D	0.000439	T	0.68375	0.2994	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.67145	0.992;0.996;0.996;0.994	D;D;D;D	0.70935	0.94;0.971;0.964;0.94	T	0.66586	-0.5886	9	0.39692	T	0.17	.	10.4658	0.44607	0.0:0.6801:0.3198:0.0	.	205;242;231;351	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	M	351;242;205	.	ENSP00000248248:L351M	L	+	1	2	MON1B	75786308	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	0.901000	0.28445	2.456000	0.83038	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	0	0	1	168	464	1	120	1	1	61	80	1	120	6		0	0	0	0	0	2	1	1	166	458	1	119	18								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS18	170692	broad.mit.edu	37	16	77323306	77323306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77323306G>A	ENST00000282849.5	-	22	3823	c.3405C>T	c.(3403-3405)tgC>tgT	p.C1135C	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18			118					AGGTGACTGTGCACTGCAGCA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000282849.5	1	1	hg19	CCDS10926.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	0	125	366	0	71	0	1.631350e-01	0	3	0	71	2		0	0	0	0	0	2	1	1	121	358	0	70	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS18	170692	broad.mit.edu	37	16	77328833	77328833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77328833C>T	ENST00000282849.5	-	19	3411	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18			118					AGACCAGGGTCCAAGGCTCCA	0.537000																								0							SO:0001583	missense			ENST00000282849.5	0	1	hg19	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550931	0.65311	.	.	ENSG00000140873	ENST00000282849	T	0.63417	-0.04	5.79	4.84	0.62591	.	0.119417	0.56097	D	0.000025	T	0.78266	0.4256	M	0.81341	2.54	0.40781	D	0.983175	D;D	0.67145	0.996;0.986	D;D	0.69824	0.966;0.955	T	0.79806	-0.1648	10	0.39692	T	0.17	.	13.9284	0.63978	0.0:0.9275:0.0:0.0725	.	998;998	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	E	998	ENSP00000282849:G998E	ENSP00000282849:G998E	G	-	2	0	ADAMTS18	75886334	1.000000	0.71417	0.655000	0.29622	0.606000	0.37113	7.202000	0.77856	1.454000	0.47793	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	0	0	0	6	237	0	32	0	0	0	1	0	32	2		0	0	0	0	0	2	1	9.636937e-01	6	233	0	30	2								-7.320661	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.330000	0.130000	0.640000	0.310000	0.359821	0.330000	0	2.200000e-01	4.900000e-01
ADAMTS18	170692	broad.mit.edu	37	16	77389909	77389909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77389909G>A	ENST00000282849.5	-	9	1806	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18			118					GGTCAGTGTGGGAGACATGAT	0.458000																								0							SO:0001583	missense			ENST00000282849.5	1	1	hg19	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097467	0.76870	.	.	ENSG00000140873	ENST00000282849	T	0.03441	3.93	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	H	0.96175	3.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.986;0.995	T	0.44190	-0.9344	10	0.87932	D	0	.	18.2505	0.90000	0.0:0.0:1.0:0.0	.	463;463	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	463	ENSP00000282849:P463L	ENSP00000282849:P463L	P	-	2	0	ADAMTS18	75947410	1.000000	0.71417	0.828000	0.32881	0.312000	0.27988	9.601000	0.98297	2.865000	0.98341	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	1	137	329	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	134	323	0	88	2								-8.960443	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS18	170692	broad.mit.edu	37	16	77398216	77398216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77398216G>A	ENST00000282849.5	-	5	1259	c.841C>T	c.(841-843)Cga>Tga	p.R281*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18			118					CTTCTGGGTCGCCCAGAGCTC	0.478000																								0							SO:0001587	stop_gained			ENST00000282849.5	0	1	hg19	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	37	6.521404	0.97633	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.17	0.466	0.16716	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3354	0.74247	0.0:0.0:0.2693:0.7307	.	.	.	.	X	281	.	ENSP00000282849:R281X	R	-	1	2	ADAMTS18	75955717	0.004000	0.15560	0.823000	0.32752	0.966000	0.64601	0.095000	0.15127	0.251000	0.21505	-0.282000	0.10007	CGA		TCGA-IB-7651-01A-11D-2154-08	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	1	88	243	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1	86	239	0	49	2								-6.000823	1	1	121412	1	28	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS18	170692	broad.mit.edu	37	16	77401620	77401620	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77401620A>C	ENST00000282849.5	-	4	914	c.496T>G	c.(496-498)Tca>Gca	p.S166A	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18			118					ATTAAACCTGACTAAAAAGCC	0.468000																								0							SO:0001630	splice_region_variant			ENST00000282849.5	1	0	hg19	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781749	0.31502	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05996	3.36;3.36	4.72	3.62	0.41486	Peptidase M12B, propeptide (1);	0.157146	0.44902	D	0.000408	T	0.04998	0.0134	L	0.33485	1.01	0.41481	D	0.988164	B	0.12013	0.005	B	0.18263	0.021	T	0.30060	-0.9991	10	0.09843	T	0.71	.	10.0528	0.42225	0.8493:0.0:0.0:0.1507	.	166	Q8TE60	ATS18_HUMAN	A	166	ENSP00000282849:S166A;ENSP00000392540:S166A	ENSP00000282849:S166A	S	-	1	0	ADAMTS18	75959121	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.863000	0.56016	0.813000	0.34350	0.454000	0.30748	TCA		TCGA-IB-7651-01A-11D-2154-08	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	1	0	1	97	314	0	73	0	0	0	1	0	73	2		0	0	0	0	0	2	1	1	95	310	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC78	124093	broad.mit.edu	37	16	775563	775563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:775563G>A	ENST00000293889.6	-	4	390	c.285C>T	c.(283-285)agC>agT	p.S95S	HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78			9		Hepatocellular(780;0.0218)			CCAGTACCCGGCTCTCCAGCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000293889.6	1	1	hg19	CCDS32353.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	1	0	1	45	186	0	50	1	6.113770e-01	2	8	0	50	2		0	0	0	0	0	2	1	1	45	184	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VAT1L	57687	broad.mit.edu	37	16	77850827	77850827	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77850827C>T	ENST00000302536.2	+	2	396	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like			24					GTGGATTAAACTTCATTGACT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000302536.2	1	1	hg19	CCDS32492.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	0	0	0	15	420	0	75	0	3.376744e-02	0	8	0	75	2		0	0	0	0	0	2	1	9.998603e-01	14	414	0	75	2								-14.780910	1	1	121412	1	31	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.440000	0.260000	0.690000	0.450000	0.463863	0.440000	0	3.400000e-01	5.700000e-01
WWOX	51741	broad.mit.edu	37	16	78149014	78149014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:78149014C>T	ENST00000566780.1	+	4	738	c.372C>T	c.(370-372)ggC>ggT	p.G124G	WWOX_ENST00000355860.3_Silent_p.G124G|WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase			7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)			ATTTCACTGGCAAAGTGGTTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000566780.1	1	1	hg19	CCDS42196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1	1	0	1	142	431	0	111	1	9.990646e-01	12	22	0	111	2		0	0	0	0	0	2	1	1	138	423	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NARFL	64428	broad.mit.edu	37	16	784812	784812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:784812G>A	ENST00000251588.2	-	5	515	c.499C>T	c.(499-501)Cga>Tga	p.R167*	NARFL_ENST00000301694.5_Silent_p.S122S|HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000540986.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like			9		Hepatocellular(780;0.0218)			ACAAACTCTCGCTGGCTCTCC	0.647000																								0							SO:0001587	stop_gained			ENST00000251588.2	0	1	hg19	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	g	40	8.095785	0.98651	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	.	.	.	5.48	3.47	0.39725	.	0.111691	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-24.7795	8.8158	0.34996	0.0722:0.0:0.6566:0.2711	.	.	.	.	X	167;65	.	ENSP00000251588:R167X	R	-	1	2	NARFL	724813	0.965000	0.33210	0.958000	0.39756	0.920000	0.55202	1.599000	0.36751	0.641000	0.30601	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	1	0	1	96	363	0	69	1	9.998984e-01	5	48	0	69	2		0	0	0	0	0	2	1	1	96	360	0	67	2								-20.000000	1	1	121324	2	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAF	4094	broad.mit.edu	37	16	79633021	79633021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633021C>T	ENST00000393350.1	-	1	1590	c.779G>A	c.(778-780)cGc>cAc	p.R260H	MAF_ENST00000326043.4_Missense_Mutation_p.R260H|MAF_ENST00000569649.1_Missense_Mutation_p.R260H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog			10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)			GTCGGAGAAGCGGTCGTCGAA	0.766000			T	IGH@	MM										Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0							SO:0001583	missense			ENST00000393350.1	1	0	hg19	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695894	0.88830	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	T;T	0.80653	-1.4;-1.4	3.73	3.73	0.42828	Maf transcription factor (1);	0.137672	0.49916	U	0.000139	D	0.82879	0.5133	L	0.37630	1.12	0.58432	D	0.99999	D;P	0.61080	0.989;0.938	P;P	0.60886	0.88;0.454	D	0.84769	0.0766	10	0.54805	T	0.06	-26.8111	15.5414	0.76052	0.0:1.0:0.0:0.0	.	260;260	O75444;O75444-1	MAF_HUMAN;.	H	260	ENSP00000327048:R260H;ENSP00000377019:R260H	ENSP00000327048:R260H	R	-	2	0	MAF	78190522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.299000	0.78831	1.806000	0.52798	0.442000	0.29010	CGC		TCGA-IB-7651-01A-11D-2154-08	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1	1	0	0	25	64	0	16	1	9.999965e-01	5	56	0	16	2		0	0	0	0	0	2	1	9.999999e-01	23	62	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAF	4094	broad.mit.edu	37	16	79633438	79633438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633438C>T	ENST00000393350.1	-	1	1173	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MAF_ENST00000326043.4_Missense_Mutation_p.S121N|MAF_ENST00000569649.1_Missense_Mutation_p.S121N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog			10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)			GAGCTGGTGGCTGTTGCTGAT	0.736000			T	IGH@	MM										Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0							SO:0001583	missense			ENST00000393350.1	0	1	hg19	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384905	0.25031	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97731	-4.51;-4.5	3.01	2.0	0.26442	.	0.104535	0.64402	D	0.000003	D	0.93562	0.7945	L	0.32530	0.975	0.32007	N	0.602629	B;P	0.36535	0.421;0.557	B;B	0.32864	0.074;0.154	D	0.91611	0.5303	10	0.31617	T	0.26	.	11.5877	0.50929	0.0:0.8167:0.1833:0.0	.	121;121	O75444;O75444-1	MAF_HUMAN;.	N	121	ENSP00000327048:S121N;ENSP00000377019:S121N	ENSP00000327048:S121N	S	-	2	0	MAF	78190939	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.998000	0.49465	0.554000	0.29061	0.638000	0.83543	AGC		TCGA-IB-7651-01A-11D-2154-08	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1	0	0	0	8	33	0	12	0	9.550661e-01	0	26	0	12	2		0	0	0	0	0	2	1	9.918790e-01	8	33	0	12	2								-19.880480	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998848	0.990000	1	9.900000e-01	1
MAF	4094	broad.mit.edu	37	16	79633606	79633606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633606C>T	ENST00000393350.1	-	1	1005	c.194G>A	c.(193-195)aGc>aAc	p.S65N	MAF_ENST00000326043.4_Missense_Mutation_p.S65N|MAF_ENST00000569649.1_Missense_Mutation_p.S65N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog			10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)			GGGCACCGAGCTGCACGGCGT	0.682000			T	IGH@	MM										Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0							SO:0001583	missense			ENST00000393350.1	1	1	hg19	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340061	0.60963	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.98835	-5.17;-5.14	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	L	0.55834	1.745	0.53688	D	0.999975	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	D	0.99360	1.0917	10	0.49607	T	0.09	-6.6173	15.9937	0.80225	0.0:1.0:0.0:0.0	.	65;65	O75444;O75444-1	MAF_HUMAN;.	N	65	ENSP00000327048:S65N;ENSP00000377019:S65N	ENSP00000327048:S65N	S	-	2	0	MAF	78191107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.910000	0.75741	1.830000	0.53286	0.638000	0.83543	AGC		TCGA-IB-7651-01A-11D-2154-08	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1	1	0	0	29	156	0	26	0	9.992065e-01	0	63	0	26	2		0	0	0	0	0	2	1	1	29	154	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
CDYL2	124359	broad.mit.edu	37	16	80718665	80718665	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718665T>C	ENST00000570137.2	-	2	541	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2			21					GGTGGCCCTGTCACCTCCTGA	0.542000																								0							SO:0001583	missense			ENST00000570137.2	1	1	hg19	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345323	0.24426	.	.	ENSG00000166446	ENST00000299564	T	0.56776	0.44	5.14	5.14	0.70334	.	0.432209	0.23830	N	0.044141	T	0.46405	0.1391	N	0.14661	0.345	0.46542	D	0.999092	D	0.58620	0.983	P	0.55222	0.771	T	0.30679	-0.9970	10	0.12430	T	0.62	.	14.3011	0.66352	0.0:0.0:0.0:1.0	.	129	Q8N8U2	CDYL2_HUMAN	G	129	ENSP00000299564:D129G	ENSP00000299564:D129G	D	-	2	0	CDYL2	79276166	1.000000	0.71417	0.987000	0.45799	0.061000	0.15899	4.807000	0.62576	2.154000	0.67381	0.482000	0.46254	GAC		TCGA-IB-7651-01A-11D-2154-08	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	1	0	1	79	339	0	70	1	7.723504e-01	2	12	0	70	2		0	0	0	0	0	2	1	1	76	333	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDYL2	124359	broad.mit.edu	37	16	80718807	80718807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718807G>A	ENST00000570137.2	-	2	399	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2			21					GACGGGCCTCGACTGTCACGC	0.522000																								0							SO:0001587	stop_gained			ENST00000570137.2	0	1	hg19	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819058	0.50633	.	.	ENSG00000166446	ENST00000299564	.	.	.	5.23	4.27	0.50696	.	0.259870	0.33235	N	0.005121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7971	0.57565	0.0:0.0:0.8366:0.1634	.	.	.	.	X	82	.	ENSP00000299564:R82X	R	-	1	2	CDYL2	79276308	1.000000	0.71417	0.231000	0.23993	0.080000	0.17528	2.062000	0.41413	1.407000	0.46875	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	1	0	1	76	339	0	60	1	5.735472e-01	2	8	0	60	2		0	0	0	0	0	2	1	1	73	335	0	60	2								-3.419460	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATMIN	23300	broad.mit.edu	37	16	81077122	81077122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81077122C>A	ENST00000299575.4	+	4	1043	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D	ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.A184D	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor			20					GCCACAGGGGCTGTGCACTTA	0.522000																								0							SO:0001583	missense			ENST00000299575.4	1	1	hg19	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821537	0.50633	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.02974	4.09	5.93	5.93	0.95920	.	0.210337	0.49916	D	0.000122	T	0.07188	0.0182	M	0.65975	2.015	0.39799	D	0.972549	P	0.50272	0.933	B	0.41860	0.368	T	0.03231	-1.1058	10	0.87932	D	0	-14.4784	20.3539	0.98825	0.0:1.0:0.0:0.0	.	340	O43313	ATMIN_HUMAN	D	340;111	ENSP00000299575:A340D	ENSP00000299575:A340D	A	+	2	0	ATMIN	79634623	1.000000	0.71417	0.353000	0.25747	0.064000	0.16182	7.262000	0.78410	2.826000	0.97356	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	1	0	1	133	388	0	78	1	1	44	51	0	78	2		0	0	0	0	0	2	1	1	129	384	0	77	2								-6.327677	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATMIN	23300	broad.mit.edu	37	16	81078026	81078026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81078026C>A	ENST00000299575.4	+	4	1947	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.F485L	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor			20					TCGAAGAGTTCTTTTCGGCCT	0.493000																								0							SO:0001583	missense			ENST00000299575.4	1	1	hg19	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508707	0.44660	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.39229	1.09	6.17	1.43	0.22495	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.37630	1.12	0.49051	D	0.999743	D	0.76494	0.999	D	0.80764	0.994	T	0.47873	-0.9083	10	0.87932	D	0	-26.8835	10.0453	0.42184	0.0:0.6098:0.0:0.3902	.	641	O43313	ATMIN_HUMAN	L	641;412	ENSP00000299575:F641L	ENSP00000299575:F641L	F	+	3	2	ATMIN	79635527	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.136000	0.31467	0.430000	0.26230	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	1	0	1	65	328	0	81	1	1	44	159	0	81	2		0	0	0	0	0	2	1	1	65	322	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf46	123775	broad.mit.edu	37	16	81097352	81097352	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81097352G>A	ENST00000299578.5	-	3	444	c.209C>T	c.(208-210)gCa>gTa	p.A70V	C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000378611.4_Splice_Site_p.A70V|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46			18					GATACTCACTGCCTCTTCCCA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000299578.5	1	0	hg19	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724517	0.68959	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.27890	1.64;1.64	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.47655	0.1457	L	0.36672	1.1	0.45403	D	0.998388	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41034	-0.9531	10	0.87932	D	0	.	16.9976	0.86372	0.0:0.0:1.0:0.0	.	70;70	Q6P387-2;Q6P387	.;CP046_HUMAN	V	70	ENSP00000367874:A70V;ENSP00000299578:A70V	ENSP00000299578:A70V	A	-	2	0	C16orf46	79654853	1.000000	0.71417	0.999000	0.59377	0.234000	0.25298	5.178000	0.65037	2.822000	0.97130	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	1	0	1	109	311	0	70	1	6.566116e-01	5	3	0	70	2		0	0	0	0	0	2	1	1	105	302	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1L2	114780	broad.mit.edu	37	16	81164153	81164153	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81164153G>A	ENST00000534142.1	-	0	342				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2			44					AAAGCCCCTGGTGAAGCTGTG	0.592000																								0											ENST00000534142.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1	0	0	0	12	66	0	19	0	2.808642e-02	1	1	0	19	2		0	0	0	0	0	2	1	9.992009e-01	12	63	0	19	2								-19.973460	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998790	0.990000	1	9.900000e-01	1
PKD1L2	114780	broad.mit.edu	37	16	81181859	81181859	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81181859A>C	ENST00000525539.1	-	0	4856				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2			44					CGACCCGGGGACGGGTGTTCT	0.572000																								0											ENST00000525539.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	0	0	0	54	253	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	1	54	249	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1L2	114780	broad.mit.edu	37	16	81183400	81183400	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81183400C>T	ENST00000525539.1	-	0	4647				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	p.V1550F(1)		44					ACCCTCTGGACGCGGGTGAAG	0.587000																								1	Substitution - Missense(1)										ENST00000525539.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	0	0	0	42	144	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	40	140	0	42	2								-20.000000	1	1	120898	7	37	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1L2	114780	broad.mit.edu	37	16	81198334	81198334	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81198334T>G	ENST00000525539.1	-	0	3259				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2			44					GTCTGCGGCATCAGGGCGCAG	0.597000																								0											ENST00000525539.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	0	0	0	94	273	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	91	269	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1L2	114780	broad.mit.edu	37	16	81248637	81248637	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81248637G>A	ENST00000525539.1	-	0	625				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2			44					CTTGACGTTGGCCCAGCTGCA	0.627000											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0											ENST00000525539.1	0	0	hg19		.	.	.	.	.	.	.	.	.	.	G	0.007	-2.004989	0.00431	.	.	ENSG00000166473	ENST00000337114	T	0.17691	2.26	4.77	-1.65	0.08291	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.791308	0.11216	N	0.587175	T	0.06280	0.0162	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.41342	-0.9514	9	0.02654	T	1	-0.0759	10.4722	0.44644	0.5602:0.0:0.4398:0.0	.	209;209	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	V	209	ENSP00000337397:A209V	ENSP00000337397:A209V	A	-	2	0	PKD1L2	79806138	0.044000	0.20184	0.001000	0.08648	0.018000	0.09664	0.949000	0.29109	-0.709000	0.05008	-0.781000	0.03364	GCC		TCGA-IB-7651-01A-11D-2154-08	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2	1	0	1	11	59	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.986880e-01	11	58	0	11	2								-19.552460	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998601	0.990000	1	9.900000e-01	1
BCMO1	0	broad.mit.edu	37	16	81298250	81298250	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81298250T>G	ENST00000258168.2	+	5	938	c.477T>G	c.(475-477)gaT>gaG	p.D159E	BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	NM_017429.2	NP_059125.2						23					TGCAGGTTGATTATCGTAAAT	0.398000																								0							SO:0001583	missense			ENST00000258168.2	1	1	hg19	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273056	0.59649	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95656	-3.77;-3.77	4.71	3.61	0.41365	.	0.365800	0.33834	N	0.004502	D	0.96790	0.8952	M	0.85197	2.74	0.42593	D	0.99325	D;D	0.63880	0.993;0.96	D;P	0.63283	0.913;0.856	D	0.95147	0.8269	10	0.39692	T	0.17	-14.6836	7.3337	0.26596	0.0:0.2278:0.0:0.7722	.	90;159	E7EM88;Q9HAY6	.;BCDO1_HUMAN	E	159;90	ENSP00000258168:D159E;ENSP00000400586:D90E	ENSP00000258168:D159E	D	+	3	2	BCMO1	79855751	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.050000	0.30404	0.761000	0.33130	0.449000	0.29647	GAT		TCGA-IB-7651-01A-11D-2154-08	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1	1	0	1	159	424	0	97	1	9.946189e-01	14	10	0	97	2		0	0	0	0	0	2	1	1	156	420	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCMO1	0	broad.mit.edu	37	16	81303878	81303878	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81303878G>A	ENST00000258168.2	+	7	1419	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	BCMO1_ENST00000425577.2_Missense_Mutation_p.V251M	NM_017429.2	NP_059125.2				p.V320M(1)		23					CGGCTGCATCGTGTTTGACGT	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000258168.2	0	1	hg19	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881124	0.33255	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.96232	-3.95;-3.95	5.62	-2.09	0.07232	.	0.432303	0.24076	N	0.041767	D	0.94571	0.8251	M	0.79343	2.45	0.37085	D	0.899185	D;P	0.63046	0.992;0.875	P;B	0.44897	0.463;0.344	D	0.92091	0.5680	10	0.62326	D	0.03	-4.5565	9.1771	0.37118	0.1574:0.1476:0.6236:0.0714	.	251;320	E7EM88;Q9HAY6	.;BCDO1_HUMAN	M	320;251	ENSP00000258168:V320M;ENSP00000400586:V251M	ENSP00000258168:V320M	V	+	1	0	BCMO1	79861379	0.000000	0.05858	0.198000	0.23420	0.306000	0.27790	-0.226000	0.09139	-0.197000	0.10350	-0.171000	0.13296	GTG		TCGA-IB-7651-01A-11D-2154-08	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1	0	0	0	12	556	0	93	0	5.271735e-02	0	16	0	93	2		0	0	0	0	0	2	0	9.629566e-02	12	548	1	92	20								-3.202060	1	1	121412	11	43	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.270000	0.140000	0.450000	0.270000	0.289455	0.270000	0	2.000000e-01	3.700000e-01
GAN	8139	broad.mit.edu	37	16	81385228	81385228	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81385228A>G	ENST00000568107.2	+	2	370	c.208A>G	c.(208-210)Act>Gct	p.T70A		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin			25		Colorectal(91;0.153)			TGATGGATCAACTTATAAGAT	0.328000													GBM(106;1239 1507 7582 9741 33976)											0							SO:0001583	missense			ENST00000568107.2	1	1	hg19	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239798	0.10023	.	.	ENSG00000127688	ENST00000248272	T	0.67171	-0.25	5.88	5.88	0.94601	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.197356	0.53938	D	0.000046	T	0.46347	0.1388	N	0.04297	-0.235	0.37084	D	0.899104	B	0.02656	0.0	B	0.01281	0.0	T	0.47971	-0.9075	10	0.29301	T	0.29	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	70	Q9H2C0	GAN_HUMAN	A	70	ENSP00000248272:T70A	ENSP00000248272:T70A	T	+	1	0	GAN	79942729	0.960000	0.32886	1.000000	0.80357	0.995000	0.86356	3.500000	0.53318	2.246000	0.74042	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3	1	0	1	103	286	0	103	0	5.010283e-01	1	5	0	103	2		0	0	0	0	0	2	1	1	102	284	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAN	8139	broad.mit.edu	37	16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81391435C>T	ENST00000568107.2	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin			25		Colorectal(91;0.153)			CCCACAGCAGCGATGCGATGC	0.433000													GBM(106;1239 1507 7582 9741 33976)											0							SO:0001583	missense			ENST00000568107.2	1	1	hg19	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192697	0.38707	.	.	ENSG00000127688	ENST00000248272	T	0.74737	-0.87	5.94	2.64	0.31445	Galactose oxidase, beta-propeller (1);	0.618014	0.18018	N	0.154339	T	0.53867	0.1823	N	0.14661	0.345	0.31137	N	0.707028	B	0.06786	0.001	B	0.01281	0.0	T	0.53049	-0.8493	10	0.45353	T	0.12	.	6.9145	0.24352	0.0:0.5983:0.0:0.4017	.	291	Q9H2C0	GAN_HUMAN	V	291	ENSP00000248272:A291V	ENSP00000248272:A291V	A	+	2	0	GAN	79948936	0.865000	0.29922	0.163000	0.22734	0.760000	0.43138	1.208000	0.32345	0.854000	0.35336	0.557000	0.71058	GCG		TCGA-IB-7651-01A-11D-2154-08	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3	1	0	1	134	724	0	148	1	4.240272e-01	3	6	0	148	2		0	0	0	0	0	2	1	1	132	708	0	148	2								-3.222118	1	1	121412	1	37	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAN	8139	broad.mit.edu	37	16	81399055	81399055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81399055T>C	ENST00000568107.2	+	9	1636	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin			25		Colorectal(91;0.153)			AACTTGCAAGTCCGAGTTCTA	0.458000													GBM(106;1239 1507 7582 9741 33976)											0							SO:0001583	missense			ENST00000568107.2	1	1	hg19	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117291	0.56505	.	.	ENSG00000127688	ENST00000248272	T	0.66099	-0.19	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	63.454200	0.00357	N	0.000027	T	0.73822	0.3636	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.57159	-0.7859	10	0.66056	D	0.02	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	492	Q9H2C0	GAN_HUMAN	P	492	ENSP00000248272:S492P	ENSP00000248272:S492P	S	+	1	0	GAN	79956556	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	7.749000	0.85096	2.291000	0.77112	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3	0	0	1	194	647	0	163	1	7.588760e-01	3	8	0	163	2		0	0	0	0	0	2	1	1	191	625	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSLN	10232	broad.mit.edu	37	16	814919	814919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:814919C>T	ENST00000382862.3	+	7	488	c.393C>T	c.(391-393)ttC>ttT	p.F131F	MSLN_ENST00000566549.1_Silent_p.F131F|MSLN_ENST00000545450.2_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin			20		Hepatocellular(780;0.00335)			CAGATGCGTTCTCGGGGCCCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000382862.3	1	1	hg19	CCDS32356.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2	1	0	0	32	109	0	19	1	1	209	392	0	19	2		0	0	0	0	0	2	1	1	32	109	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMIP	80790	broad.mit.edu	37	16	81685954	81685954	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81685954G>A	ENST00000537098.3	+	4	696	c.624G>A	c.(622-624)tcG>tcA	p.S208S	CMIP_ENST00000398040.4_Silent_p.S55S|CMIP_ENST00000539778.2_Silent_p.S114S|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein			13					AAATCGTCTCGAAACTGCTCT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000537098.3	1	1	hg19	CCDS54044.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	1	0	1	104	236	0	66	1	1	84	152	0	66	2		0	0	0	0	0	2	1	1	100	233	0	66	2								-9.129630	1	1	120846	1	28	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMIP	80790	broad.mit.edu	37	16	81703810	81703810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81703810C>T	ENST00000537098.3	+	8	961	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	CMIP_ENST00000398040.4_Missense_Mutation_p.L144F|CMIP_ENST00000539778.2_Missense_Mutation_p.L203F|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein			13					CTTGAACGAGCTCAACGCGGG	0.587000																								0							SO:0001583	missense			ENST00000537098.3	1	1	hg19	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874812	0.72180	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.10668	2.85;2.85	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.18964	0.0455	N	0.19112	0.55	0.54753	D	0.999988	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.75484	0.986;0.986;0.979	T	0.02654	-1.1128	10	0.62326	D	0.03	.	13.5913	0.61961	0.0:0.9228:0.0:0.0771	.	144;203;297	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	F	297;203;203;110	ENSP00000446100:L297F;ENSP00000440401:L203F	ENSP00000381120:L203F	L	+	1	0	CMIP	80261311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.522000	0.60539	2.298000	0.77334	0.467000	0.42956	CTC		TCGA-IB-7651-01A-11D-2154-08	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	1	0	1	12	65	0	17	1	9.999830e-01	34	95	0	17	2		0	0	0	0	0	2	1	9.991320e-01	12	62	0	17	2								-19.971890	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998910	0.990000	1	9.900000e-01	1
CMIP	80790	broad.mit.edu	37	16	81739151	81739151	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81739151C>T	ENST00000537098.3	+	19	2211	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CMIP_ENST00000398040.4_Silent_p.L560L|CMIP_ENST00000539778.2_Silent_p.L619L|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein			13					TCACCATGCTCCAGGTGCTGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000537098.3	1	1	hg19	CCDS54044.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	1	0	1	24	81	0	13	1	1	84	167	0	13	2		0	0	0	0	0	2	1	9.999999e-01	24	80	0	13	2								-20.000000	1	1	120330	3	27	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCG2	5336	broad.mit.edu	37	16	81939093	81939093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81939093T>C	ENST00000359376.3	+	15	1662	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)			58					GAGCTGTACATGTGGGATTCC	0.587000																								0							SO:0001583	missense			ENST00000359376.3	1	1	hg19	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703665	0.48412	.	.	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	5.18	5.18	0.71444	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);	0.043429	0.85682	D	0.000000	T	0.54224	0.1845	L	0.40543	1.245	0.80722	D	1	B;P	0.48764	0.017;0.915	B;B	0.33750	0.008;0.169	T	0.63594	-0.6602	10	0.72032	D	0.01	.	15.0501	0.71862	0.0:0.0:0.0:1.0	.	350;483	B4E3H3;P16885	.;PLCG2_HUMAN	T	483	ENSP00000352336:M483T	ENSP00000352336:M483T	M	+	2	0	PLCG2	80496594	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.010000	0.64004	1.964000	0.57103	0.445000	0.29226	ATG		TCGA-IB-7651-01A-11D-2154-08	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	1	0	1	56	132	0	41	1	1	28	62	0	41	2		0	0	0	0	0	2	1	1	56	130	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCG2	5336	broad.mit.edu	37	16	81942147	81942147	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81942147C>A	ENST00000359376.3	+	17	1898	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)			58					TGGCACCTTCCTGGTTCGGGA	0.572000																								0							SO:0001583	missense			ENST00000359376.3	1	1	hg19	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245294	0.59103	.	.	ENSG00000197943	ENST00000359376	T	0.60672	0.17	4.72	-2.06	0.07298	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (4);	0.081372	0.49916	D	0.000134	T	0.69024	0.3065	M	0.83692	2.655	0.54753	D	0.999986	D;P	0.59357	0.985;0.771	P;P	0.58928	0.848;0.714	T	0.71094	-0.4692	10	0.49607	T	0.09	.	11.9618	0.53013	0.0:0.5831:0.0:0.4169	.	429;562	B4E3H3;P16885	.;PLCG2_HUMAN	M	562	ENSP00000352336:L562M	ENSP00000352336:L562M	L	+	1	2	PLCG2	80499648	0.191000	0.23288	0.991000	0.47740	0.938000	0.57974	-0.480000	0.06559	-0.368000	0.08040	-0.251000	0.11542	CTG		TCGA-IB-7651-01A-11D-2154-08	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	1	0	1	37	159	0	30	1	9.999983e-01	22	71	0	30	2		0	0	0	0	0	2	1	1	37	153	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCG2	5336	broad.mit.edu	37	16	81944315	81944315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81944315G>A	ENST00000359376.3	+	18	2138	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)			58					CAACCCCCACGAGTCCAAGCC	0.667000																								0							SO:0001583	missense			ENST00000359376.3	1	1	hg19	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450329	0.63290	2.41E-4	0.0	ENSG00000197943	ENST00000359376	D	0.93019	-3.15	4.97	4.97	0.65823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (1);	0.194915	0.45867	D	0.000333	D	0.93383	0.7890	L	0.59436	1.845	0.43863	D	0.996463	D;P	0.64830	0.994;0.888	P;B	0.51487	0.671;0.073	D	0.93177	0.6571	10	0.49607	T	0.09	.	13.2269	0.59919	0.0:0.0:0.841:0.159	.	509;642	B4E3H3;P16885	.;PLCG2_HUMAN	K	642	ENSP00000352336:E642K	ENSP00000352336:E642K	E	+	1	0	PLCG2	80501816	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	4.682000	0.61671	2.320000	0.78422	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	0	0	1	220	1024	0	201	1	9.999990e-01	18	71	0	201	2		0	0	0	0	0	2	1	1	218	997	0	195	2								-2.267113	0	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSLNL	401827	broad.mit.edu	37	16	819456	819456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:819456C>T	ENST00000442466.1	-	15	2080	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.R1045H			Q96KJ4	MSLNL_HUMAN	mesothelin-like			36					CCCAAGTGGGCGTCCAGCTGA	0.632000																								0							SO:0001583	missense			ENST00000442466.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	3.391	-0.124381	0.06795	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.19938	2.11;2.51;2.12	2.98	-5.47	0.02600	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	B	0.21452	0.056	B	0.04013	0.001	T	0.31806	-0.9930	8	0.87932	D	0	.	4.8329	0.13449	0.0:0.2008:0.3172:0.482	.	694	Q96KJ4	MSLNL_HUMAN	H	744;694;1045	ENSP00000441381:R744H;ENSP00000415767:R694H;ENSP00000293892:R1045H	ENSP00000293892:R1045H	R	-	2	0	MSLNL	759457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.901000	0.00338	-1.098000	0.03038	-0.693000	0.03709	CGC		TCGA-IB-7651-01A-11D-2154-08	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1	74	281	1	64	0	1.963627e-01	0	4	1	64	2		0	0	0	0	0	2	1	1	72	278	1	64	18								-3.804081	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCG2	5336	broad.mit.edu	37	16	81969845	81969845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81969845G>A	ENST00000359376.3	+	27	3128	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)			58					ACAGAAGCCCGTCGACCTCCT	0.517000																								0							SO:0001583	missense			ENST00000359376.3	1	1	hg19	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	5.370	0.253447	0.10185	0.0	1.2E-4	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	4.79	-2.47	0.06442	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.908362	0.09494	N	0.794498	T	0.39886	0.1095	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16129	-1.0413	10	0.37606	T	0.19	.	8.6391	0.33966	0.276:0.2342:0.4898:0.0	.	972	P16885	PLCG2_HUMAN	I	972	ENSP00000352336:V972I	ENSP00000352336:V972I	V	+	1	0	PLCG2	80527346	0.000000	0.05858	0.014000	0.15608	0.122000	0.20287	0.091000	0.15046	-0.838000	0.04218	-0.311000	0.09066	GTC		TCGA-IB-7651-01A-11D-2154-08	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	0	0	0	9	300	0	55	0	8.699312e-01	1	123	0	55	2		0	0	0	0	0	2	1	9.943153e-01	9	299	0	54	2								-9.736789	1	1	120878	5	39	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.380000	0.180000	0.660000	0.360000	0.406118	0.380000	0	2.700000e-01	5.300000e-01
PLCG2	5336	broad.mit.edu	37	16	81972512	81972512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81972512C>T	ENST00000359376.3	+	29	3519	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)			58					TTCAAGACGACGGTTGTGAGT	0.512000																								0							SO:0001583	missense			ENST00000359376.3	1	1	hg19	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282341	0.23392	.	.	ENSG00000197943	ENST00000359376	T	0.69806	-0.43	5.39	5.39	0.77823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.309400	0.38959	N	0.001501	T	0.63522	0.2518	M	0.75447	2.3	0.09310	N	0.999994	P	0.34934	0.476	B	0.27887	0.084	T	0.64795	-0.6323	10	0.59425	D	0.04	.	12.4855	0.55871	0.0:0.9236:0.0:0.0764	.	1102	P16885	PLCG2_HUMAN	M	1102	ENSP00000352336:T1102M	ENSP00000352336:T1102M	T	+	2	0	PLCG2	80530013	0.233000	0.23772	0.582000	0.28627	0.660000	0.38997	1.732000	0.38146	2.517000	0.84864	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	1	0	1	18	87	0	29	1	9.999997e-01	20	129	0	29	2		0	0	0	0	0	2	1	9.999871e-01	18	84	0	28	2								-12.691820	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
PLCG2	5336	broad.mit.edu	37	16	81979814	81979814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81979814C>T	ENST00000359376.3	+	31	3730	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)			58					ATGGGTACAGCGAGGACATAG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000359376.3	1	1	hg19	CCDS42204.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	1	0	0	163	493	0	116	1	1	35	90	0	116	2		0	0	0	0	0	2	1	1	163	484	0	114	2								-6.266481	1	1	120902	8	43	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSLNL	401827	broad.mit.edu	37	16	820164	820164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:820164C>T	ENST00000442466.1	-	14	1767	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.G941S			Q96KJ4	MSLNL_HUMAN	mesothelin-like			36					GCGTCCAGGCCGAGCTGGCCC	0.721000																								0							SO:0001583	missense			ENST00000442466.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	c	15.92	2.974818	0.53720	0.0	1.17E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.22336	1.96;1.96;1.96	4.44	3.48	0.39840	.	0.147080	0.45126	D	0.000392	T	0.16514	0.0397	.	.	.	0.31954	N	0.609335	P	0.40050	0.7	B	0.36378	0.223	T	0.15694	-1.0428	9	0.54805	T	0.06	-41.6552	10.5908	0.45308	0.0:0.8045:0.1955:0.0	.	590	Q96KJ4	MSLNL_HUMAN	S	640;590;941	ENSP00000441381:G640S;ENSP00000415767:G590S;ENSP00000293892:G941S	ENSP00000293892:G941S	G	-	1	0	MSLNL	760165	0.988000	0.35896	0.930000	0.37139	0.005000	0.04900	0.643000	0.24750	1.215000	0.43411	0.537000	0.68136	GGC		TCGA-IB-7651-01A-11D-2154-08	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	7	85	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.796993e-01	8	81	0	13	2								-12.114450	1	1	119190	7	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.440000	1.000000	1.000000	0.881568	0.990000	1	6.800000e-01	1
HSD17B2	3294	broad.mit.edu	37	16	82069166	82069166	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82069166C>T	ENST00000199936.4	+	1	330	c.137C>T	c.(136-138)gCa>gTa	p.A46V		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2			10					GGCCTCTGTGCAGTCTGCCTG	0.512000																								0							SO:0001583	missense			ENST00000199936.4	1	1	hg19	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698495	0.30142	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.31	0.988	0.19796	.	0.700950	0.12992	N	0.422406	T	0.67841	0.2936	N	0.22421	0.69	0.22240	N	0.999265	P	0.38335	0.627	B	0.35114	0.196	T	0.54180	-0.8332	10	0.23891	T	0.37	.	8.7751	0.34756	0.0891:0.5215:0.3895:0.0	.	46	P37059	DHB2_HUMAN	V	46	ENSP00000199936:A46V	ENSP00000199936:A46V	A	+	2	0	HSD17B2	80626667	0.997000	0.39634	0.982000	0.44146	0.169000	0.22640	0.538000	0.23160	0.291000	0.22468	-0.340000	0.08031	GCA		TCGA-IB-7651-01A-11D-2154-08	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	1	0	1	24	258	0	55	1	9.999999e-01	53	254	0	55	2		0	0	0	0	0	2	1	9.999997e-01	23	253	0	54	2								-9.017921	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.720000	1.000000	1.000000	0.961976	0.990000	1	8.900000e-01	1
HSD17B2	3294	broad.mit.edu	37	16	82131894	82131894	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82131894G>A	ENST00000199936.4	+	5	1210	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2			10					CCTATTACACGCCAGGGAAAG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000199936.4	1	1	hg19	CCDS10936.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	1	0	1	100	485	0	98	1	1	175	357	0	98	2		0	0	0	0	0	2	1	1	99	477	0	98	2								-20.000000	1	1	121412	8	44	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH13	1012	broad.mit.edu	37	16	83378596	83378596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83378596G>T	ENST00000566620.1	+	6	1056	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	CDH13_ENST00000268613.10_Nonsense_Mutation_p.E303*|CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13			1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)			CCACGTCATGGAAGGGTCACC	0.507000																								0							SO:0001587	stop_gained			ENST00000566620.1	0	1	hg19	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	39	7.332772	0.98217	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8872	0.92383	0.0:0.0:1.0:0.0	.	.	.	.	X	303;256;217	.	ENSP00000268613:E303X	E	+	1	0	CDH13	81936097	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.822000	0.86651	2.882000	0.98803	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	0	0	0	17	473	0	103	0	4.737917e-01	0	44	0	103	2		0	0	0	0	0	2	1	9.999583e-01	17	461	0	103	2								-15.687620	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.440000	0.270000	0.680000	0.450000	0.463903	0.440000	0	3.500000e-01	5.700000e-01
RPUSD1	113000	broad.mit.edu	37	16	836178	836178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836178G>A	ENST00000561734.1	-	5	954	c.711C>T	c.(709-711)tgC>tgT	p.C237C	RPUSD1_ENST00000007264.2_Silent_p.C237C|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000567114.1_Silent_p.C108C|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank|CHTF18_ENST00000455171.2_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1			7		Hepatocellular(780;0.00335)			GGGGGCTCCAGCAGGCATCCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000561734.1	1	1	hg19	CCDS10426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	1	0	1	23	508	0	88	1	6.813363e-01	5	48	0	88	2		0	0	0	0	0	2	1	9.999992e-01	23	498	0	88	2								-19.995740	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.550000	0.340000	1.000000	0.520000	0.616934	0.550000	0	4.300000e-01	1
RPUSD1	113000	broad.mit.edu	37	16	836310	836310	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836310G>A	ENST00000561734.1	-	5	822	c.579C>T	c.(577-579)taC>taT	p.Y193Y	RPUSD1_ENST00000007264.2_Silent_p.Y193Y|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000567114.1_Silent_p.Y64Y|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank|CHTF18_ENST00000455171.2_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1			7		Hepatocellular(780;0.00335)			AGACTTCTCCGTAGGTCAGGT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000561734.1	0	1	hg19	CCDS10426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	0	0	0	14	589	0	107	1	5.502116e-01	5	71	0	107	2		0	0	0	0	0	2	1	9.997199e-01	14	577	0	106	2								-2.903361	1	1	121064	4	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.300000	0.160000	1.000000	0.270000	0.418232	0.300000	0	2.200000e-01	1
CDH13	1012	broad.mit.edu	37	16	83704532	83704532	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83704532C>T	ENST00000566620.1	+	9	1529	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CDH13_ENST00000268613.10_Silent_p.I460I|CDH13_ENST00000428848.3_Silent_p.I374I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13			1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)			GCTTTGAAATCCACACCAACC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000566620.1	1	1	hg19	CCDS58486.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	1	0	0	57	677	0	159	0	9.459364e-01	0	59	0	159	2		0	0	0	0	0	2	1	1	54	666	0	157	2								-12.822790	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.760000	1.000000	1.000000	0.950283	0.990000	1	8.600000e-01	1
CHTF18	63922	broad.mit.edu	37	16	839554	839554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:839554G>T	ENST00000262315.9	+	4	508	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000317063.6_Nonsense_Mutation_p.E346*|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000567114.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)			11		Hepatocellular(780;0.00335)			CAGAGTCTCAGAAGCTGCTGC	0.627000																								0							SO:0001587	stop_gained			ENST00000262315.9	0	1	hg19	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.599175|3.599175	0.66332|0.66332	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315|ENST00000426047	.|.	.|.	.|.	4.17|4.17	3.21|3.21	0.36854|0.36854	.|.	1.724250|.	0.02839|.	N|.	0.127711|.	.|T	.|0.41259	.|0.1151	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50013	.|-0.8877	.|3	0.06365|.	T|.	0.9|.	-14.3195|-14.3195	6.4388|6.4388	0.21839|0.21839	0.2197:0.0:0.7803:0.0|0.2197:0.0:0.7803:0.0	.|.	.|.	.|.	.|.	X|I	346;177;149|19	.|.	ENSP00000262315:E149X|.	E|R	+|+	1|2	0|0	CHTF18|CHTF18	779555|779555	0.022000|0.022000	0.18835|0.18835	0.009000|0.009000	0.14445|0.14445	0.002000|0.002000	0.02628|0.02628	0.817000|0.817000	0.27281|0.27281	1.093000|1.093000	0.41377|0.41377	0.549000|0.549000	0.68633|0.68633	GAA|AGA		TCGA-IB-7651-01A-11D-2154-08	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	1	0	0	73	351	0	64	1	7.213336e-01	2	12	0	64	2		0	0	0	0	0	2	1	1	72	345	0	64	2								-3.354859	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSGIN1	29948	broad.mit.edu	37	16	83992884	83992884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83992884C>A	ENST00000343939.2	+	4	719	c.336C>A	c.(334-336)atC>atA	p.I112I	OSGIN1_ENST00000565123.1_Silent_p.I29I|OSGIN1_ENST00000393306.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1			12					CCTCTGGTATCTGCCTGTCCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000343939.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	0	0	0	18	535	0	118	0	8.518396e-01	1	103	0	118	2		0	0	0	0	0	2	1	9.999727e-01	17	510	0	117	2								-3.652687	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.420000	0.250000	0.630000	0.420000	0.434421	0.420000	0	3.300000e-01	5.300000e-01
OSGIN1	29948	broad.mit.edu	37	16	83994650	83994650	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83994650T>G	ENST00000343939.2	+	6	1093	c.710T>G	c.(709-711)gTc>gGc	p.V237G	OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1			12					GACCTGGAGGTCAAGGACTGG	0.612000																								0							SO:0001583	missense			ENST00000343939.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.76	2.333273	0.41297	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.21191	2.02;2.02;2.02	4.53	4.53	0.55603	.	0.201058	0.43110	N	0.000609	T	0.19565	0.0470	L	0.40543	1.245	0.54753	D	0.999985	B	0.12630	0.006	B	0.14578	0.011	T	0.03514	-1.1029	10	0.87932	D	0	-14.9239	13.0035	0.58690	0.0:0.0:0.0:1.0	.	237	Q9UJX0	OSGI1_HUMAN	G	237;154;154	ENSP00000343376:V237G;ENSP00000355374:V154G;ENSP00000376983:V154G	ENSP00000343376:V237G	V	+	2	0	OSGIN1	82552151	0.717000	0.27966	1.000000	0.80357	0.622000	0.37654	4.020000	0.57189	1.662000	0.50781	0.402000	0.26972	GTC		TCGA-IB-7651-01A-11D-2154-08	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	0	0	1	70	328	0	55	1	9.999803e-01	25	51	0	55	2		0	0	0	0	0	2	1	1	69	321	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSGIN1	29948	broad.mit.edu	37	16	83999313	83999313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83999313G>A	ENST00000343939.2	+	7	1767	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	NECAB2_ENST00000305202.4_5'Flank|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1			12					CGTGTTCCAGGACCTCGAGGG	0.647000																								0							SO:0001583	missense			ENST00000343939.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.718	0.913690	0.17907	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.33216	1.42;1.42;1.42	4.66	4.66	0.58398	.	0.252505	0.41500	D	0.000867	T	0.49440	0.1557	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.36553	-0.9743	10	0.22706	T	0.39	-48.3103	16.5398	0.84382	0.0:0.0:1.0:0.0	.	462	Q9UJX0	OSGI1_HUMAN	N	462;379;379	ENSP00000343376:D462N;ENSP00000355374:D379N;ENSP00000376983:D379N	ENSP00000343376:D462N	D	+	1	0	OSGIN1	82556814	0.995000	0.38212	0.596000	0.28811	0.226000	0.24999	4.166000	0.58203	2.140000	0.66376	0.313000	0.20887	GAC		TCGA-IB-7651-01A-11D-2154-08	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	0	0	1	90	351	0	81	1	1	53	61	0	81	2		0	0	0	0	0	2	1	1	89	347	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A8	146167	broad.mit.edu	37	16	84050168	84050168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84050168C>T	ENST00000299709.3	-	8	1117	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8			26					TCCGATGATGCTGACGATCTC	0.587000																								0							SO:0001583	missense			ENST00000299709.3	1	1	hg19	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522115	0.13066	.	.	ENSG00000166558	ENST00000299709	T	0.02890	4.12	4.47	2.35	0.29111	.	0.922945	0.09335	N	0.816306	T	0.04092	0.0114	M	0.62723	1.935	0.09310	N	1	B	0.23990	0.095	B	0.22601	0.04	T	0.33137	-0.9880	10	0.48119	T	0.1	.	4.7346	0.12982	0.1527:0.6074:0.149:0.0909	.	373	A6NNN8	S38A8_HUMAN	N	373	ENSP00000299709:S373N	ENSP00000299709:S373N	S	-	2	0	SLC38A8	82607669	0.002000	0.14202	0.300000	0.25030	0.020000	0.10135	0.893000	0.28336	2.038000	0.60285	0.478000	0.44815	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	1	51	266	0	61	0	0	1	0	0	61	2		0	0	0	0	0	2	1	1	50	266	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A8	146167	broad.mit.edu	37	16	84056428	84056428	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056428C>T	ENST00000299709.3	-	6	756	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8			26					AGCACAGACACCAGGGCCCAG	0.607000																								0							SO:0001583	missense			ENST00000299709.3	1	1	hg19	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141028	0.37825	.	.	ENSG00000166558	ENST00000299709	T	0.02682	4.2	5.37	3.36	0.38483	.	0.187239	0.46758	D	0.000261	T	0.14570	0.0352	M	0.80746	2.51	0.48571	D	0.999673	D	0.67145	0.996	D	0.67231	0.95	T	0.00553	-1.1674	10	0.72032	D	0.01	.	14.7349	0.69409	0.0:0.7244:0.2756:0.0	.	253	A6NNN8	S38A8_HUMAN	M	253	ENSP00000299709:V253M	ENSP00000299709:V253M	V	-	1	0	SLC38A8	82613929	1.000000	0.71417	0.996000	0.52242	0.043000	0.13939	1.445000	0.35079	0.602000	0.29896	-0.326000	0.08463	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	0	20	196	0	42	0	0	1	0	0	42	2		0	0	0	0	0	2	1	9.999960e-01	19	195	0	42	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.760000	1.000000	1.000000	0.976014	0.990000	1	9.500000e-01	1
SLC38A8	146167	broad.mit.edu	37	16	84056464	84056464	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056464T>C	ENST00000299709.3	-	6	720	c.721A>G	c.(721-723)Agc>Ggc	p.S241G		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8			26					TTGCGCATGCTGCAGTAGATG	0.582000																								0							SO:0001583	missense			ENST00000299709.3	0	1	hg19	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523176	0.44866	.	.	ENSG00000166558	ENST00000299709	T	0.02606	4.23	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	M	0.83603	2.65	0.58432	D	0.999992	D	0.76494	0.999	D	0.70487	0.969	T	0.00373	-1.1781	10	0.51188	T	0.08	.	14.3515	0.66705	0.0:0.0:0.0:1.0	.	241	A6NNN8	S38A8_HUMAN	G	241	ENSP00000299709:S241G	ENSP00000299709:S241G	S	-	1	0	SLC38A8	82613965	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.278000	0.78587	2.029000	0.59856	0.448000	0.29417	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	0	0	0	6	161	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.645219e-01	6	159	0	33	2								-8.941334	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.480000	0.200000	0.910000	0.450000	0.516677	0.480000	0	3.200000e-01	7.000000e-01
SLC38A8	146167	broad.mit.edu	37	16	84056473	84056473	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056473T>C	ENST00000299709.3	-	6	711	c.712A>G	c.(712-714)Atc>Gtc	p.I238V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8			26					CTGCAGTAGATGGAGACGGCA	0.567000																								0							SO:0001583	missense			ENST00000299709.3	1	1	hg19	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.442334	0.01089	.	.	ENSG00000166558	ENST00000299709	T	0.03860	3.78	5.37	1.73	0.24493	.	0.174225	0.49916	N	0.000124	T	0.02929	0.0087	N	0.17838	0.53	0.47737	D	0.999505	B	0.27013	0.166	B	0.28465	0.09	T	0.50996	-0.8761	10	0.12103	T	0.63	.	7.7735	0.29023	0.0:0.2919:0.0:0.7081	.	238	A6NNN8	S38A8_HUMAN	V	238	ENSP00000299709:I238V	ENSP00000299709:I238V	I	-	1	0	SLC38A8	82613974	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	1.236000	0.32683	0.305000	0.22832	-0.384000	0.06662	ATC		TCGA-IB-7651-01A-11D-2154-08	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	1	17	152	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999693e-01	16	150	0	31	2								-19.999990	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.790000	1.000000	1.000000	0.984279	0.990000	1	9.900000e-01	1
SLC38A8	146167	broad.mit.edu	37	16	84056480	84056480	+	Silent	SNP	G	G	A	rs146922664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056480G>A	ENST00000299709.3	-	6	704	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8			26					AGATGGAGACGGCAGCTTCGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000299709.3	0	1	hg19	CCDS32495.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	0	19	147	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999932e-01	20	145	0	26	2								-20.000000	1	0	121408	51	44	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.930000	1.000000	1.000000	0.995697	0.990000	1	9.900000e-01	1
MBTPS1	8720	broad.mit.edu	37	16	84104310	84104310	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1			41					ACCAAGGCCATAAGACCGAGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000343411.3	1	1	hg19	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198901	0.22121	.	.	ENSG00000140943	ENST00000347334	.	.	.	5.76	-7.95	0.01148	.	.	.	.	.	T	0.65637	0.2710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74993	-0.3474	5	0.87932	D	0	-13.5847	11.8154	0.52207	0.0:0.5526:0.1687:0.2786	.	.	.	.	V	1	.	ENSP00000342515:M1V	M	-	1	0	MBTPS1	82661811	0.007000	0.16637	0.424000	0.26647	0.897000	0.52465	-1.082000	0.03400	-1.436000	0.01970	0.482000	0.46254	ATG		TCGA-IB-7651-01A-11D-2154-08	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	1	132	403	0	119	1	1	82	199	0	119	2		0	0	0	0	0	2	1	1	133	393	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBTPS1	8720	broad.mit.edu	37	16	84115363	84115363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84115363C>T	ENST00000343411.3	-	11	1932	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1			41					TTGCCTGTGGCTTGTAGCTGT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000343411.3	1	1	hg19	CCDS10941.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	1	81	433	0	80	1	1	55	271	0	80	2		0	0	0	0	0	2	1	1	81	413	0	76	2								-2.720066	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBTPS1	8720	broad.mit.edu	37	16	84129262	84129262	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84129262C>T	ENST00000343411.3	-	4	1065	c.570G>A	c.(568-570)ccG>ccA	p.P190P	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1			41					CAACCTGGCGCGGGATGGCTC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000343411.3	0	1	hg19	CCDS10941.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	0	0	0	10	624	0	94	1	9.043296e-01	3	256	0	94	2		0	0	0	0	0	2	1	9.967618e-01	10	618	0	94	2								-3.149952	1	0	121412	1	32	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.200000	0.100000	0.350000	0.210000	0.219636	0.200000	0	1.400000e-01	2.800000e-01
MBTPS1	8720	broad.mit.edu	37	16	84132743	84132743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132743C>T	ENST00000343411.3	-	3	831	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1			41					TTAGCAGCCCCGCTTTCTGTT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000343411.3	1	1	hg19	CCDS10941.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	1	120	577	0	122	1	1	51	282	0	122	2		0	0	0	0	0	2	1	1	117	569	0	120	2								-2.444326	0	0	121412	4	43	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBTPS1	8720	broad.mit.edu	37	16	84132819	84132819	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132819A>C	ENST00000343411.3	-	3	755	c.260T>G	c.(259-261)aTt>aGt	p.I87S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1			41					TCGAGGTATAATTCTCCAATT	0.378000																								0							SO:0001583	missense			ENST00000343411.3	1	1	hg19	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537704	0.85917	.	.	ENSG00000140943	ENST00000343411	T	0.36520	1.25	5.82	5.82	0.92795	.	0.088634	0.85682	D	0.000000	T	0.58466	0.2124	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	T	0.63959	-0.6519	10	0.87932	D	0	-19.3983	16.1685	0.81786	1.0:0.0:0.0:0.0	.	87	Q14703	MBTP1_HUMAN	S	87	ENSP00000344223:I87S	ENSP00000344223:I87S	I	-	2	0	MBTPS1	82690320	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	8.870000	0.92336	2.225000	0.72522	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	1	122	558	0	121	1	1	39	270	0	121	2		0	0	0	0	0	2	1	1	118	547	0	121	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHTF18	63922	broad.mit.edu	37	16	841944	841944	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:841944G>A	ENST00000262315.9	+	9	1261	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	CHTF18_ENST00000317063.6_Missense_Mutation_p.A595T|CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)			11		Hepatocellular(780;0.00335)			GGAGATGAACGCCAGGTGAGT	0.627000																								0							SO:0001583	missense			ENST00000262315.9	0	1	hg19	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750830	0.89753	0.0	2.34E-4	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.19669	2.13;2.13;2.13	5.04	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55547	-0.8124	10	0.87932	D	0	-14.4997	15.8801	0.79197	0.0:0.0:1.0:0.0	.	428;400	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	T	595;428;400	ENSP00000313029:A595T;ENSP00000406252:A428T;ENSP00000262315:A400T	ENSP00000262315:A400T	A	+	1	0	CHTF18	781945	1.000000	0.71417	0.806000	0.32338	0.365000	0.29674	9.587000	0.98229	2.344000	0.79699	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	1	0	1	10	71	0	13	1	2.885334e-01	5	3	0	13	2		0	0	0	0	0	2	1	9.971420e-01	10	69	0	13	2								-17.267920	1	1	120554	3	31	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.800000	1.000000	1.000000	0.987459	0.990000	1	9.900000e-01	1
TAF1C	9013	broad.mit.edu	37	16	84213008	84213008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84213008G>T	ENST00000567759.1	-	14	2331	c.2149C>A	c.(2149-2151)Ctc>Atc	p.L717I	TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa			26					CGCTCACTGAGCTTGTCCTCT	0.716000																								0							SO:0001583	missense			ENST00000567759.1	1	1	hg19	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440383	0.63067	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02709	4.19;4.19;4.19	5.14	3.97	0.46021	.	0.117523	0.33834	N	0.004508	T	0.11793	0.0287	M	0.72118	2.19	0.28389	N	0.919179	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.00520	-1.1692	10	0.87932	D	0	-37.0793	9.4541	0.38745	0.1147:0.0:0.8853:0.0	.	691;240;717;623	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	I	717;624;623;240	ENSP00000367802:L717I;ENSP00000437900:L624I;ENSP00000345305:L623I	ENSP00000345305:L623I	L	-	1	0	TAF1C	82770509	0.812000	0.29077	0.998000	0.56505	0.707000	0.40811	1.602000	0.36783	2.390000	0.81377	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	1	0	0	22	276	0	31	1	6.999292e-01	4	28	0	31	2		0	0	0	0	0	2	1	9.999987e-01	22	270	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.940000	0.610000	1.000000	1.000000	0.905057	0.940000	1	7.600000e-01	1
TAF1C	9013	broad.mit.edu	37	16	84215011	84215011	+	Missense_Mutation	SNP	G	G	A	rs140327311	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215011G>A	ENST00000567759.1	-	10	1347	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa			26					TCTGCCCAACGCCACGAAGAG	0.652000																								0							SO:0001583	missense			ENST00000567759.1	1	1	hg19	CCDS32496.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	17.88	3.498123	0.64186	4.55E-4	0.001163	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.03301	3.98;3.98;3.98	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);	0.094549	0.41500	D	0.000877	T	0.15825	0.0381	M	0.72118	2.19	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.983;0.998;0.983	T	0.00090	-1.2087	10	0.66056	D	0.02	-23.8596	12.7086	0.57076	0.0:0.0:1.0:0.0	.	363;389;296	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	C	389;296;296	ENSP00000367802:R389C;ENSP00000437900:R296C;ENSP00000345305:R296C	ENSP00000345305:R296C	R	-	1	0	TAF1C	82772512	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.077000	0.71275	2.360000	0.80028	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	1	0	1	45	164	0	37	1	9.980839e-01	10	27	0	37	2		0	0	0	0	0	2	1	1	43	157	0	37	2								-3.015776	1	0	121406	127	49	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF1C	9013	broad.mit.edu	37	16	84215021	84215021	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215021G>T	ENST00000567759.1	-	10	1337	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S	TAF1C_ENST00000378541.4_Silent_p.S385S|TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000566732.1_Silent_p.S359S|TAF1C_ENST00000570117.1_Silent_p.S53S	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa			26					GCCACGAAGAGGAGTCCCGGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000567759.1	1	1	hg19	CCDS32496.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	1	0	1	36	172	0	38	1	9.990021e-01	14	40	0	38	2		0	0	0	0	0	2	1	1	36	168	0	38	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNG4	93107	broad.mit.edu	37	16	84256170	84256170	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84256170T>C	ENST00000308251.4	-	3	1281	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4			31					GAGGCGGGGATGCTGGTGAAC	0.647000																								0							SO:0001583	missense			ENST00000308251.4	1	1	hg19	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683031	0.47991	.	.	ENSG00000168418	ENST00000308251	D	0.98455	-4.94	5.61	5.61	0.85477	Ion transport (1);	0.046703	0.85682	D	0.000000	D	0.96614	0.8895	L	0.55743	1.74	0.80722	D	1	P	0.35107	0.484	B	0.38225	0.268	D	0.95789	0.8823	10	0.66056	D	0.02	.	9.4757	0.38869	0.0:0.0783:0.0:0.9217	.	405	Q8TDN1	KCNG4_HUMAN	V	405	ENSP00000312129:I405V	ENSP00000312129:I405V	I	-	1	0	KCNG4	82813671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.232000	0.58645	2.127000	0.65507	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	1	0	0	24	276	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	9.999997e-01	24	270	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.680000	1.000000	1.000000	0.941998	0.990000	1	8.400000e-01	1
KCNG4	93107	broad.mit.edu	37	16	84270731	84270731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84270731C>T	ENST00000308251.4	-	2	429	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_ENST00000568181.1_Missense_Mutation_p.G121R	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4			31					ACGATCACCCCGAAGGCGCTG	0.622000																								0							SO:0001583	missense			ENST00000308251.4	1	1	hg19	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159132	0.09236	.	.	ENSG00000168418	ENST00000308251	T	0.74842	-0.88	5.12	4.16	0.48862	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.158983	0.56097	D	0.000038	T	0.40067	0.1102	N	0.01277	-0.915	0.38865	D	0.956576	B;P	0.35011	0.008;0.48	B;B	0.26614	0.017;0.071	T	0.43147	-0.9409	10	0.25751	T	0.34	.	8.9585	0.35832	0.0:0.8319:0.0:0.1681	.	121;121	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	R	121	ENSP00000312129:G121R	ENSP00000312129:G121R	G	-	1	0	KCNG4	82828232	0.233000	0.23772	0.820000	0.32676	0.953000	0.61014	0.089000	0.15002	1.144000	0.42321	0.549000	0.68633	GGG		TCGA-IB-7651-01A-11D-2154-08	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	1	0	1	46	315	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	46	310	0	52	2								-2.744839	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
WFDC1	58189	broad.mit.edu	37	16	84353101	84353101	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353101C>T	ENST00000219454.5	+	4	812	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WFDC1_ENST00000568638.1_Silent_p.C162C	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1			9					GCTATGAGTGCCACATCCTGA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000219454.5	1	1	hg19	CCDS10946.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2	1	0	1	97	248	0	51	0	8.174031e-01	0	10	0	51	2		0	0	0	0	0	2	1	1	96	244	0	51	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WFDC1	58189	broad.mit.edu	37	16	84358039	84358039	+	Nonsense_Mutation	SNP	C	C	T	rs148672864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84358039C>T	ENST00000219454.5	+	5	903	c.577C>T	c.(577-579)Cga>Tga	p.R193*	WFDC1_ENST00000568638.1_Nonsense_Mutation_p.R193*	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1			9					GCGAATCCTACGACACAAACT	0.358000																								0							SO:0001587	stop_gained			ENST00000219454.5	0	0	hg19	CCDS10946.1	4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	18.33	3.599834	0.66332	0.003182	1.16E-4	ENSG00000103175	ENST00000219454	.	.	.	4.55	-5.54	0.02544	.	0.125962	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5874	13.6663	0.62398	0.765:0.1425:0.0925:0.0	.	.	.	.	X	193	.	ENSP00000219454:R193X	R	+	1	2	WFDC1	82915540	0.204000	0.23447	0.000000	0.03702	0.010000	0.07245	0.265000	0.18515	-0.688000	0.05155	-1.229000	0.01577	CGA		TCGA-IB-7651-01A-11D-2154-08	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2	1	0	1	72	261	0	71	0	9.799446e-01	0	25	0	71	2		0	0	0	0	0	2	1	1	72	259	0	71	2								-3.181547	1	1	121408	62	50	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2C2	9914	broad.mit.edu	37	16	84442094	84442094	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84442094C>T	ENST00000262429.4	+	4	500	c.411C>T	c.(409-411)atC>atT	p.I137I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.I137I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2			33					CCGTCAGCATCGCCACGGTGA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000262429.4	1	1	hg19	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	2.682	-0.275063	0.05679	.	.	ENSG00000064270	ENST00000420010	.	.	.	4.7	2.75	0.32379	.	.	.	.	.	T	0.46171	0.1379	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39313	-0.9620	7	0.87932	D	0	.	6.9582	0.24583	0.0:0.7117:0.0:0.2883	.	7	F8WAA5	.	L	7	.	ENSP00000393378:S7L	S	+	2	0	ATP2C2	82999595	0.464000	0.25807	0.948000	0.38648	0.075000	0.17131	0.355000	0.20163	0.431000	0.26258	-0.362000	0.07510	TCG		TCGA-IB-7651-01A-11D-2154-08	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	1	0	0	54	159	0	38	1	9.489592e-01	12	5	0	38	2		0	0	0	0	0	2	1	1	54	156	0	38	2								-3.329922	1	1	121044	8	37	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2C2	9914	broad.mit.edu	37	16	84459343	84459343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84459343C>T	ENST00000262429.4	+	11	1011	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L308F	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2			33					TTCCCCAGGTCTCATCATGCT	0.502000																								0							SO:0001583	missense			ENST00000262429.4	1	1	hg19	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933585	0.18206	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.90324	-2.65;-2.65	5.0	-2.62	0.06152	ATPase, P-type, ATPase-associated domain (1);	1.503780	0.03710	N	0.250100	D	0.85283	0.5661	L	0.28115	0.83	0.38978	D	0.958882	B;B;B;B	0.21753	0.027;0.018;0.022;0.06	B;B;B;B	0.33750	0.12;0.043;0.073;0.169	T	0.70132	-0.4956	10	0.56958	D	0.05	.	5.7035	0.17895	0.0:0.1713:0.4723:0.3564	.	308;157;325;308	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	F	308;308;157	ENSP00000397925:L308F;ENSP00000262429:L308F	ENSP00000262429:L308F	L	+	1	0	ATP2C2	83016844	0.985000	0.35326	0.274000	0.24659	0.152000	0.21847	0.236000	0.17967	-0.250000	0.09555	-0.176000	0.13171	CTC		TCGA-IB-7651-01A-11D-2154-08	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	1	0	1	245	865	0	241	1	9.953711e-01	15	16	0	241	2		0	0	0	0	0	2	1	1	241	851	0	239	2								-20.000000	1	1	120926	1	34	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2C2	9914	broad.mit.edu	37	16	84485577	84485577	+	Missense_Mutation	SNP	C	C	A	rs146513346	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84485577C>A	ENST00000262429.4	+	18	1800	c.1711C>A	c.(1711-1713)Ctt>Att	p.L571I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.L571I	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2			33					GTTTCTCGGTCTTGTGGGCAT	0.627000																								0							SO:0001583	missense			ENST00000262429.4	1	1	hg19	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362537	0.41902	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74526	-0.85;-0.85	4.97	4.02	0.46733	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000013	T	0.77994	0.4214	L	0.45422	1.42	0.49483	D	0.999795	P;B;B;B	0.34934	0.476;0.264;0.421;0.31	P;B;B;B	0.51777	0.679;0.175;0.396;0.268	T	0.77091	-0.2716	10	0.48119	T	0.1	.	12.4434	0.55637	0.0:0.9179:0.0:0.0821	.	571;420;588;571	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	I	571;571;420	ENSP00000397925:L571I;ENSP00000262429:L571I	ENSP00000262429:L571I	L	+	1	0	ATP2C2	83043078	0.998000	0.40836	0.070000	0.20053	0.025000	0.11179	3.669000	0.54561	1.094000	0.41399	0.491000	0.48974	CTT		TCGA-IB-7651-01A-11D-2154-08	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	0	0	0	81	848	0	144	1	9.455617e-01	6	46	0	144	2		0	0	0	0	0	2	1	1	77	829	0	144	2								-19.502670	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.890000	1.000000	1.000000	0.991313	0.990000	1	9.900000e-01	1
KLHL36	79786	broad.mit.edu	37	16	84690700	84690700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84690700G>A	ENST00000564996.1	+	3	428	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36			13					TCCTACATTGGGCTCAAGGCC	0.607000																								0							SO:0001583	missense			ENST00000564996.1	1	1	hg19	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922463	0.52653	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.65732	-0.17	5.7	4.73	0.59995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046923	0.85682	D	0.000000	T	0.76877	0.4049	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79671	-0.1706	10	0.72032	D	0.01	.	15.805	0.78491	0.0:0.1363:0.8637:0.0	.	96;96	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	E	96	ENSP00000258157:G96E	ENSP00000258157:G96E	G	+	2	0	KLHL36	83248201	1.000000	0.71417	0.965000	0.40720	0.202000	0.24057	9.664000	0.98607	1.380000	0.46344	-0.176000	0.13171	GGG		TCGA-IB-7651-01A-11D-2154-08	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2	0	0	1	94	287	0	48	1	1	28	51	0	48	2		0	0	0	0	0	2	1	1	91	280	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL36	79786	broad.mit.edu	37	16	84691069	84691069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691069C>T	ENST00000564996.1	+	3	797	c.656C>T	c.(655-657)aCg>aTg	p.T219M	KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36			13					CAGTGGCTGACGCAGCAGCCC	0.667000																								0							SO:0001583	missense			ENST00000564996.1	1	1	hg19	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269783	0.59540	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69435	-0.4	5.53	5.53	0.82687	BTB/Kelch-associated (2);	0.180710	0.56097	D	0.000033	T	0.72203	0.3431	L	0.28274	0.84	0.47308	D	0.999388	D;D	0.71674	0.998;0.998	D;P	0.63703	0.917;0.891	T	0.74999	-0.3472	10	0.62326	D	0.03	.	18.4595	0.90734	0.0:1.0:0.0:0.0	.	219;219	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	M	219	ENSP00000258157:T219M	ENSP00000258157:T219M	T	+	2	0	KLHL36	83248570	0.947000	0.32204	0.999000	0.59377	0.989000	0.77384	3.012000	0.49575	2.587000	0.87381	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2	1	0	1	99	223	0	60	1	9.999586e-01	19	18	0	60	2		0	0	0	0	0	2	1	1	98	218	0	57	2								-20.000000	1	1	120852	1	28	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL36	79786	broad.mit.edu	37	16	84691332	84691332	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691332C>T	ENST00000564996.1	+	3	1060	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36			13					GGTCTCCGAGCGGTGTCTGGA	0.677000																								0							SO:0001583	missense			ENST00000564996.1	1	1	hg19	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840363	0.71488	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67698	-0.28	5.15	4.2	0.49525	Kelch-type beta propeller (1);	0.122178	0.56097	D	0.000030	T	0.73745	0.3626	M	0.62723	1.935	0.52099	D	0.999941	D;D	0.67145	0.996;0.983	P;P	0.53954	0.738;0.588	T	0.77760	-0.2467	10	0.87932	D	0	.	14.9005	0.70675	0.0:0.8562:0.1438:0.0	.	307;307	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	307	ENSP00000258157:R307W	ENSP00000258157:R307W	R	+	1	2	KLHL36	83248833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.730000	0.62015	1.163000	0.42636	-0.257000	0.10917	CGG		TCGA-IB-7651-01A-11D-2154-08	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2	1	0	1	41	128	0	28	1	9.999956e-01	29	35	0	28	2		0	0	0	0	0	2	1	1	41	127	0	28	2								-20.000000	1	1	121258	1	30	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL36	79786	broad.mit.edu	37	16	84695391	84695391	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84695391C>T	ENST00000564996.1	+	5	1644	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	KLHL36_ENST00000258157.5_Silent_p.S438S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36			13					TCGGGGGCAGCGATGACAACA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000564996.1	1	1	hg19	CCDS10948.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2	1	0	1	90	240	0	47	1	9.999977e-01	17	37	0	47	2		0	0	0	0	0	2	1	1	90	236	0	47	2								-6.416538	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GINS2	51659	broad.mit.edu	37	16	85712255	85712255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85712255G>A	ENST00000253462.3	-	4	423	c.323C>T	c.(322-324)cCg>cTg	p.P108L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)			6					GTCTGCCTTCGGGATGTTGTC	0.512000																								0							SO:0001583	missense			ENST00000253462.3	1	1	hg19	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337646	0.81911	.	.	ENSG00000131153	ENST00000253462	.	.	.	5.53	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.79921	-0.1599	9	0.42905	T	0.14	-34.2138	13.9823	0.64313	0.0732:0.0:0.9268:0.0	.	108	Q9Y248	PSF2_HUMAN	L	108	.	ENSP00000253462:P108L	P	-	2	0	GINS2	84269756	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	9.257000	0.95545	1.349000	0.45751	-0.259000	0.10710	CCG		TCGA-IB-7651-01A-11D-2154-08	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	1	0	1	92	481	0	106	1	9.998196e-01	11	56	0	106	2		0	0	0	0	0	2	1	1	90	473	0	105	2								-2.243406	0	1	121392	1	34	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COX4I1	1327	broad.mit.edu	37	16	85840345	85840345	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85840345G>A	ENST00000562336.1	+	5	568	c.375G>A	c.(373-375)gtG>gtA	p.V125V	COX4I1_ENST00000568794.1_3'UTR|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000253452.2_Splice_Site_p.V125V|COX4I1_ENST00000561569.1_Splice_Site_p.V125V			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1			9		Renal(780;0.228)			ACACCGTAGTGTACGGCCCCC	0.547000																								0							SO:0001630	splice_region_variant			ENST00000562336.1	0	1	hg19	CCDS10955.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430873.1	0	0	0	16	410	0	87	1	1	135	2905	0	87	2		0	0	0	0	0	2	1	9.999225e-01	16	400	0	83	2								-15.495600	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.480000	0.280000	0.740000	0.480000	0.503127	0.480000	0	3.700000e-01	6.200000e-01
IRF8	3394	broad.mit.edu	37	16	85942733	85942733	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85942733C>T	ENST00000268638.5	+	3	734	c.312C>T	c.(310-312)tcC>tcT	p.S104S	IRF8_ENST00000563180.1_Silent_p.S104S	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8			24		Prostate(104;0.0771)			TGGACATTTCCGAGCCATACA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000268638.5	1	0	hg19	CCDS10956.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	1	0	1	52	246	0	59	1	1	2	137	0	59	2		0	0	0	0	0	2	1	1	52	240	0	55	2								-1.501821	0	1	121412	4	43	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF8	3394	broad.mit.edu	37	16	85952190	85952190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85952190G>A	ENST00000268638.5	+	7	1191	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8			24		Prostate(104;0.0771)			GCCGGCCGACGCCATCCCCAG	0.726000																								0							SO:0001583	missense			ENST00000268638.5	1	1	hg19	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032788	0.19590	.	.	ENSG00000140968	ENST00000268638	D	0.95272	-3.66	5.1	-10.2	0.00374	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.932551	0.09287	N	0.822867	D	0.82540	0.5059	N	0.21583	0.68	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.70421	-0.4876	10	0.14656	T	0.56	-2.6013	2.0591	0.03587	0.46:0.1642:0.21:0.1658	.	257	Q02556	IRF8_HUMAN	T	257	ENSP00000268638:A257T	ENSP00000268638:A257T	A	+	1	0	IRF8	84509691	0.000000	0.05858	0.029000	0.17559	0.913000	0.54294	-0.493000	0.06459	-2.503000	0.00509	-0.142000	0.14014	GCC		TCGA-IB-7651-01A-11D-2154-08	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	1	0	1	79	230	0	43	0	2.746015e-01	0	4	0	43	2		0	0	0	0	0	2	1	1	76	226	0	43	2								-20.000000	1	1	120094	1	26	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF8	3394	broad.mit.edu	37	16	85954818	85954818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85954818G>A	ENST00000268638.5	+	9	1633	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8			24		Prostate(104;0.0771)			CAGGTCTTCCGGATGTTTCCA	0.587000																								0							SO:0001583	missense			ENST00000268638.5	1	1	hg19	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604648	0.87157	.	.	ENSG00000140968	ENST00000268638	D	0.95171	-3.63	5.63	5.63	0.86233	SMAD domain-like (1);SMAD/FHA domain (1);	0.108661	0.64402	D	0.000009	D	0.91801	0.7406	L	0.32530	0.975	0.45390	D	0.998373	D	0.55605	0.972	B	0.42522	0.39	D	0.92082	0.5673	10	0.49607	T	0.09	-44.2873	19.6783	0.95946	0.0:0.0:1.0:0.0	.	404	Q02556	IRF8_HUMAN	Q	404	ENSP00000268638:R404Q	ENSP00000268638:R404Q	R	+	2	0	IRF8	84512319	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	6.305000	0.72805	2.655000	0.90218	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	1	0	1	156	430	0	93	1	1	4	89	0	93	2		0	0	0	0	0	2	1	1	151	418	0	93	2								-6.935671	1	0	121412	2	34	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXF1	2294	broad.mit.edu	37	16	86544232	86544232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86544232C>T	ENST00000262426.4	+	1	100	c.57C>T	c.(55-57)ggC>ggT	p.G19G	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1			12					gcggcggcggcgggggaggcg	0.776000																								0							SO:0001819	synonymous_variant			ENST00000262426.4	0	1	hg19	CCDS10957.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	0	0	0	12	25	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.994613e-01	12	23	0	8	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
FOXF1	2294	broad.mit.edu	37	16	86545078	86545078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86545078C>T	ENST00000262426.4	+	1	946	c.903C>T	c.(901-903)tcC>tcT	p.S301S	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1			12					ACCCCCTGTCCGGCAGCCTCT	0.706000																								0							SO:0001819	synonymous_variant			ENST00000262426.4	1	1	hg19	CCDS10957.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	1	0	0	21	61	0	18	0	9.999741e-01	1	58	0	18	2		0	0	0	0	0	2	1	9.999991e-01	21	60	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXC2	2303	broad.mit.edu	37	16	86601141	86601141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601141C>A	ENST00000320354.4	+	1	285	c.200C>A	c.(199-201)cCt>cAt	p.P67H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)			15					CCCGCGGCGCCTAAGGACCTG	0.652000									Late-onset Hereditary Lymphedema															0							SO:0001583	missense	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	ENST00000320354.4	1	1	hg19	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500724	0.64298	.	.	ENSG00000176692	ENST00000320354	D	0.96011	-3.88	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.388043	0.21425	U	0.074752	D	0.96623	0.8898	M	0.62723	1.935	0.43061	D	0.994685	D	0.69078	0.997	P	0.62014	0.897	D	0.96193	0.9139	10	0.38643	T	0.18	.	16.2107	0.82151	0.0:1.0:0.0:0.0	.	67	Q99958	FOXC2_HUMAN	H	67	ENSP00000326371:P67H	ENSP00000326371:P67H	P	+	2	0	FOXC2	85158642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.145000	0.66743	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	1	0	0	130	341	0	69	0	6.167446e-01	0	7	0	69	2		0	0	0	0	0	2	1	1	129	334	0	68	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXC2	2303	broad.mit.edu	37	16	86601231	86601231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601231G>A	ENST00000320354.4	+	1	375	c.290G>A	c.(289-291)gGc>gAc	p.G97D	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)			15					ACCTTGAACGGCATCTACCAG	0.597000									Late-onset Hereditary Lymphedema															0		GRCh37	CD012256	FOXC2	D		SO:0001583	missense	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	ENST00000320354.4	1	1	hg19	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024882	0.75390	.	.	ENSG00000176692	ENST00000320354	D	0.95103	-3.61	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.56097	U	0.000029	D	0.94673	0.8282	L	0.37697	1.125	0.80722	D	1	P	0.41978	0.767	P	0.56648	0.803	D	0.94092	0.7354	10	0.37606	T	0.19	.	16.2107	0.82151	0.0:0.0:1.0:0.0	.	97	Q99958	FOXC2_HUMAN	D	97	ENSP00000326371:G97D	ENSP00000326371:G97D	G	+	2	0	FOXC2	85158732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.145000	0.66743	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	1	0	0	42	800	0	178	0	1.061978e-01	0	11	0	178	2		0	0	0	0	0	2	1	1	41	779	0	176	2								-5.655000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.630000	0.460000	0.830000	0.630000	0.647804	0.630000	0	5.400000e-01	7.400000e-01
FOXC2	2303	broad.mit.edu	37	16	86601383	86601383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601383C>A	ENST00000320354.4	+	1	527	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)			15					TTACTGGACCCTGGACCCGGA	0.627000									Late-onset Hereditary Lymphedema															0							SO:0001583	missense	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	ENST00000320354.4	0	1	hg19	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025122	0.54683	.	.	ENSG00000176692	ENST00000320354	D	0.96913	-4.17	4.54	3.58	0.41010	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.43747	U	0.000525	D	0.97879	0.9303	M	0.85197	2.74	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.97920	1.0314	10	0.72032	D	0.01	.	11.5189	0.50539	0.0:0.9096:0.0:0.0904	.	148	Q99958	FOXC2_HUMAN	M	148	ENSP00000326371:L148M	ENSP00000326371:L148M	L	+	1	2	FOXC2	85158884	0.969000	0.33509	0.984000	0.44739	0.989000	0.77384	2.354000	0.44098	0.899000	0.36444	0.558000	0.71614	CTG		TCGA-IB-7651-01A-11D-2154-08	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	0	0	0	15	722	0	157	0	1.598889e-02	0	9	0	157	2		0	0	0	0	0	2	1	9.998508e-01	14	709	0	157	2								-2.506689	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.260000	0.150000	0.410000	0.270000	0.275144	0.260000	0	2.000000e-01	3.400000e-01
FBXO31	79791	broad.mit.edu	37	16	87364932	87364932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87364932C>T	ENST00000311635.7	-	9	1594	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31			17					AGCATCTCATCGAAGGCCTGT	0.617000																								0							SO:0001583	missense			ENST00000311635.7	1	1	hg19	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236583	0.79800	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.86	4.86	0.63082	.	0.108090	0.64402	D	0.000006	T	0.55513	0.1925	L	0.36672	1.1	0.51767	D	0.999931	P;D	0.54047	0.939;0.964	B;P	0.45971	0.303;0.499	T	0.62695	-0.6800	9	0.72032	D	0.01	-29.6364	18.3459	0.90322	0.0:1.0:0.0:0.0	.	528;420	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	N	528	.	ENSP00000310841:D528N	D	-	1	0	FBXO31	85922433	1.000000	0.71417	0.940000	0.37924	0.953000	0.61014	7.269000	0.78482	2.404000	0.81709	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	1	0	1	51	261	0	50	1	1	28	112	0	50	2		0	0	0	0	0	2	1	1	51	259	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO31	79791	broad.mit.edu	37	16	87377229	87377229	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87377229T>G	ENST00000311635.7	-	4	644	c.632A>C	c.(631-633)aAa>aCa	p.K211T		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31			17					GTGGGGCCCTTTGTGGCCGTA	0.637000																								0							SO:0001583	missense			ENST00000311635.7	1	1	hg19	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674904	0.29783	.	.	ENSG00000103264	ENST00000311635	T	0.70164	-0.46	5.05	-1.46	0.08800	.	0.096351	0.64402	D	0.000001	T	0.49081	0.1536	N	0.24115	0.695	0.39230	D	0.963656	P;P	0.46706	0.883;0.675	B;B	0.42827	0.399;0.381	T	0.45789	-0.9237	10	0.40728	T	0.16	-14.7255	10.9479	0.47312	0.0:0.1776:0.0:0.8224	.	211;103	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	T	211	ENSP00000310841:K211T	ENSP00000310841:K211T	K	-	2	0	FBXO31	85934730	0.994000	0.37717	0.007000	0.13788	0.812000	0.45895	2.197000	0.42696	-0.482000	0.06782	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	1	0	1	20	96	0	26	1	9.999971e-01	23	91	0	26	2		0	0	0	0	0	2	1	9.999965e-01	19	93	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
ZCCHC14	23174	broad.mit.edu	37	16	87445750	87445750	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87445750C>T	ENST00000268616.4	-	12	2383	c.2166G>A	c.(2164-2166)acG>acA	p.T722T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14			36					AGCTGGGCAACGTGGCCATGT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000268616.4	1	1	hg19	CCDS10961.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	1	0	1	87	400	0	80	1	9.999993e-01	15	80	0	80	2		0	0	0	0	0	2	1	1	85	389	0	78	2								-20.000000	1	1	121412	2	36	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC14	23174	broad.mit.edu	37	16	87446179	87446179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87446179C>T	ENST00000268616.4	-	12	1954	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14			36					AGCTGCTCTCCGAAAGCCCAG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000268616.4	0	1	hg19	CCDS10961.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	0	0	0	11	438	0	65	0	4.566703e-01	0	59	0	65	2		0	0	0	0	0	2	1	9.981807e-01	11	429	0	65	2								-2.961085	1	1	121412	7	39	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.320000	0.160000	0.530000	0.300000	0.337177	0.320000	0	2.300000e-01	4.300000e-01
ZCCHC14	23174	broad.mit.edu	37	16	87448966	87448966	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87448966C>A	ENST00000268616.4	-	9	1197	c.980G>T	c.(979-981)aGc>aTc	p.S327I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14			36					TTCAGTAAGGCTCAAAAACTT	0.393000																								0							SO:0001583	missense			ENST00000268616.4	1	1	hg19	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036877	0.75617	.	.	ENSG00000140948	ENST00000268616	T	0.50813	0.73	5.8	5.8	0.92144	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.133890	0.64402	D	0.000002	T	0.64114	0.2569	L	0.42245	1.32	0.39463	D	0.967599	D;D	0.76494	0.998;0.999	D;D	0.74674	0.934;0.984	T	0.65425	-0.6171	10	0.72032	D	0.01	-30.6939	20.0537	0.97638	0.0:1.0:0.0:0.0	.	327;327	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	I	327	ENSP00000268616:S327I	ENSP00000268616:S327I	S	-	2	0	ZCCHC14	86006467	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.334000	0.59291	2.758000	0.94735	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	0	0	1	71	337	0	68	1	9.944255e-01	7	33	0	68	2		0	0	0	0	0	2	1	1	69	329	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JPH3	57338	broad.mit.edu	37	16	87677922	87677922	+	Silent	SNP	C	C	T	rs140115944	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87677922C>T	ENST00000284262.2	+	2	683	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3			30					TCCGGCAGAGCGTCCCGTATG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000284262.2	1	1	hg19	CCDS10962.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2	1	0	1	179	481	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	178	470	0	87	2								-20.000000	1	1	121270	9	42	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JPH3	57338	broad.mit.edu	37	16	87678325	87678325	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678325G>A	ENST00000284262.2	+	2	1086	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3			30					CGACATCGACGCCACCACCAC	0.667000																								0							SO:0001583	missense			ENST00000284262.2	1	1	hg19	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223433	0.95139	2.27E-4	0.0	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51071	0.72	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.64622	-0.6364	10	0.26408	T	0.33	.	17.1059	0.86663	0.0:0.0:1.0:0.0	.	282	Q8WXH2	JPH3_HUMAN	T	145;282	ENSP00000284262:A282T	ENSP00000284262:A282T	A	+	1	0	JPH3	86235826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.580000	0.98207	2.286000	0.76751	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2	1	0	1	144	360	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1	143	355	0	62	2								-20.000000	1	1	121394	5	39	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JPH3	57338	broad.mit.edu	37	16	87678515	87678515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678515G>A	ENST00000284262.2	+	2	1276	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3			30					ATCCTCGTCGGCGGCAAGCGC	0.677000																								0							SO:0001583	missense			ENST00000284262.2	1	1	hg19	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018483	0.54576	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.70045	-0.45	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	N	0.08118	0	0.26726	N	0.970681	B	0.02656	0.0	B	0.04013	0.001	T	0.19451	-1.0305	10	0.21014	T	0.42	.	16.3368	0.83067	0.0:0.0:1.0:0.0	.	345	Q8WXH2	JPH3_HUMAN	D	208;345	ENSP00000284262:G345D	ENSP00000284262:G345D	G	+	2	0	JPH3	86236016	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	6.520000	0.73773	2.098000	0.63641	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2	1	0	1	84	305	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	83	300	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHDC4	54758	broad.mit.edu	37	16	87744864	87744864	+	Missense_Mutation	SNP	G	G	A	rs141733244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87744864G>A	ENST00000270583.5	-	9	1079	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4			21					TCAAACCAACGGTTCCTGGTG	0.587000																								0							SO:0001583	missense			ENST00000270583.5	1	1	hg19	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173339	0.57584	4.55E-4	0.0	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.18502	2.21;2.21;2.21	4.54	3.59	0.41128	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.93462	3.42	0.80722	D	1	P;P;D;D	0.89917	0.892;0.939;1.0;1.0	B;B;D;D	0.83275	0.376;0.357;0.978;0.996	T	0.59252	-0.7489	10	0.59425	D	0.04	-18.6654	11.4437	0.50110	0.0889:0.0:0.9111:0.0	.	160;284;310;341	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	C	341;160;310;284	ENSP00000270583:R341C;ENSP00000325717:R310C;ENSP00000262530:R284C	ENSP00000270583:R341C	R	-	1	0	KLHDC4	86302365	1.000000	0.71417	0.997000	0.53966	0.244000	0.25665	8.659000	0.91116	0.910000	0.36722	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	1	0	1	60	378	0	79	1	9.998317e-01	16	66	0	79	2		0	0	0	0	0	2	1	1	59	374	0	76	2								-2.578581	1	1	121412	4	43	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHDC4	54758	broad.mit.edu	37	16	87764186	87764186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764186G>T	ENST00000270583.5	-	6	629	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4			21					CCACCAAACAGGATCAATTGT	0.438000																								0							SO:0001583	missense			ENST00000270583.5	1	1	hg19	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528879	0.64860	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000353170	T;T	0.69040	-0.37;-0.37	4.92	1.22	0.21188	Kelch-type beta propeller (1);	0.291280	0.32593	N	0.005883	T	0.65217	0.2670	L	0.31476	0.935	0.31859	N	0.621278	D;D;B	0.64830	0.994;0.991;0.397	D;P;B	0.65987	0.94;0.894;0.206	T	0.66110	-0.6005	10	0.45353	T	0.12	-21.5663	7.3044	0.26438	0.0:0.3857:0.3034:0.311	.	10;134;191	Q9UF94;Q8TBB5-2;Q8TBB5	.;.;KLDC4_HUMAN	M	191;10;134	ENSP00000270583:L191M;ENSP00000262530:L134M	ENSP00000270583:L191M	L	-	1	2	KLHDC4	86321687	0.043000	0.20138	0.538000	0.28064	0.827000	0.46813	-0.176000	0.09811	1.010000	0.39314	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	0	0	1	135	471	0	136	1	9.999991e-01	32	39	0	136	2		0	0	0	0	0	2	1	1	133	463	0	135	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHDC4	54758	broad.mit.edu	37	16	87764215	87764215	+	Missense_Mutation	SNP	C	C	T	rs145431417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764215C>T	ENST00000270583.5	-	6	600	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q|KLHDC4_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4			21					GGCCACCATCCGATGTCCACT	0.433000																								0							SO:0001583	missense			ENST00000270583.5	1	1	hg19	CCDS10963.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.604795	0.96626	0.001365	0.0	ENSG00000104731	ENST00000270583;ENST00000353170	T;T	0.62232	0.04;0.04	4.92	4.92	0.64577	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.953	T	0.79926	-0.1597	10	0.59425	D	0.04	-1.9439	15.2697	0.73689	0.0:1.0:0.0:0.0	.	124;181	Q8TBB5-2;Q8TBB5	.;KLDC4_HUMAN	Q	181;124	ENSP00000270583:R181Q;ENSP00000262530:R124Q	ENSP00000270583:R181Q	R	-	2	0	KLHDC4	86321716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.499000	0.73683	2.272000	0.75746	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	1	0	0	33	558	0	144	1	8.992015e-01	5	64	0	144	2		0	0	0	0	0	2	1	1	32	544	0	144	2								-2.773874	1	0	121412	11	46	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.710000	0.500000	0.960000	0.720000	0.726798	0.710000	0	6.000000e-01	8.400000e-01
SLC7A5	8140	broad.mit.edu	37	16	87868172	87868172	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87868172A>C	ENST00000261622.4	-	9	1381	c.1316T>G	c.(1315-1317)tTc>tGc	p.F439C	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5			10				Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GGCCAGGATGAAGAACACAGG	0.647000																								0							SO:0001583	missense			ENST00000261622.4	1	1	hg19	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473396	0.84640	.	.	ENSG00000103257	ENST00000261622	D	0.90444	-2.67	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95763	0.8802	10	0.87932	D	0	.	14.7371	0.69424	1.0:0.0:0.0:0.0	.	439	Q01650	LAT1_HUMAN	C	439	ENSP00000261622:F439C	ENSP00000261622:F439C	F	-	2	0	SLC7A5	86425673	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.087000	0.76893	2.084000	0.62774	0.374000	0.22700	TTC		TCGA-IB-7651-01A-11D-2154-08	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	1	0	1	15	44	0	11	1	1	49	153	0	11	2		0	0	0	0	0	2	1	9.999435e-01	15	44	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SLC7A5	8140	broad.mit.edu	37	16	87874675	87874675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87874675G>T	ENST00000261622.4	-	3	816	c.751C>A	c.(751-753)Ctc>Atc	p.L251I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5			10				Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TAGGCAAAGAGGCCGCTGTAT	0.522000																								0							SO:0001583	missense			ENST00000261622.4	1	1	hg19	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512358	0.64522	.	.	ENSG00000103257	ENST00000261622	D	0.90676	-2.71	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94506	0.7714	10	0.34782	T	0.22	.	18.0096	0.89219	0.0:0.0:1.0:0.0	.	251	Q01650	LAT1_HUMAN	I	251	ENSP00000261622:L251I	ENSP00000261622:L251I	L	-	1	0	SLC7A5	86432176	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.427000	0.66483	2.503000	0.84419	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	1	0	1	65	425	0	120	1	9.999995e-01	35	102	0	120	2		0	0	0	0	0	2	1	1	63	423	0	119	2								-3.221908	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
BANP	54971	broad.mit.edu	37	16	88039849	88039849	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88039849G>T	ENST00000393207.1	+	6	830	c.609G>T	c.(607-609)acG>acT	p.T203T	BANP_ENST00000393208.2_Silent_p.T172T|BANP_ENST00000355163.5_Silent_p.T178T|BANP_ENST00000479780.2_Silent_p.T172T|BANP_ENST00000355022.4_Silent_p.T172T|BANP_ENST00000538234.1_Silent_p.T211T|BANP_ENST00000286122.7_Silent_p.T203T	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein			12					GCAACGTCACGCTCATCACCC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000393207.1	1	0	hg19	CCDS54054.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	1	0	0	177	363	0	86	1	9.999433e-01	9	23	0	86	2		0	0	0	0	0	2	1	1	174	358	0	84	2								-15.209310	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BANP	54971	broad.mit.edu	37	16	88066767	88066767	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88066767G>A	ENST00000393207.1	+	9	1313	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	BANP_ENST00000393208.2_Silent_p.P333P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000286122.7_Silent_p.P364P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein			12					AGCCACAGCCGCAGCCGCAGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000393207.1	0	1	hg19	CCDS54054.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	1	0	0	10	201	0	32	1	4.680656e-01	5	26	0	32	2		0	0	0	0	0	2	1	9.942759e-01	9	175	0	29	2								-4.566931	1	1	121364	4	30	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.620000	0.320000	1.000000	1.000000	0.644190	0.620000	0	4.500000e-01	8.300000e-01
ABAT	18	broad.mit.edu	37	16	8829607	8829607	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8829607T>G	ENST00000396600.2	+	2	949	c.11T>G	c.(10-12)aTg>aGg	p.M4R	ABAT_ENST00000425191.2_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000268251.8_Missense_Mutation_p.M4R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase			26				L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGCCTCCATGTTGCTCGCC	0.587000																								0							SO:0001583	missense			ENST00000396600.2	0	1	hg19	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110442	0.20714	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.81739	-1.53;-1.53;-1.53	4.1	2.99	0.34606	.	0.314257	0.35615	N	0.003093	T	0.69771	0.3148	L	0.36672	1.1	0.28748	N	0.901563	B	0.02656	0.0	B	0.01281	0.0	T	0.64317	-0.6436	10	0.62326	D	0.03	-2.3346	8.544	0.33410	0.0:0.0:0.2275:0.7725	.	4	P80404	GABT_HUMAN	R	4	ENSP00000268251:M4R;ENSP00000379845:M4R;ENSP00000411916:M4R	ENSP00000268251:M4R	M	+	2	0	ABAT	8737108	0.998000	0.40836	0.855000	0.33649	0.299000	0.27559	1.916000	0.39986	0.781000	0.33589	0.529000	0.55759	ATG		TCGA-IB-7651-01A-11D-2154-08	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	1	0	1	14	54	0	10	1	9.806368e-01	9	20	0	10	2		0	0	0	0	0	2	1	9.998474e-01	14	53	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999859	0.990000	1	9.900000e-01	1
ABAT	18	broad.mit.edu	37	16	8844347	8844347	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8844347C>T	ENST00000396600.2	+	5	1205	c.267C>T	c.(265-267)gaC>gaT	p.D89D	ABAT_ENST00000425191.2_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000569156.1_Silent_p.D89D|ABAT_ENST00000268251.8_Silent_p.D89D	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase			26				L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTGATGTGGACGGCAACCGAA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000396600.2	0	1	hg19	CCDS10534.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	0	0	0	12	672	0	122	1	1.381498e-01	2	32	0	122	2		0	0	0	0	0	2	1	9.990123e-01	12	660	0	122	2								-2.753100	1	0	121412	83	54	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.230000	0.110000	1.000000	0.210000	0.360889	0.230000	0	1.600000e-01	1
ZFPM1	161882	broad.mit.edu	37	16	88600853	88600853	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88600853C>T	ENST00000319555.3	+	10	2809	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1			4					TCCACAGCCTCGAGGCCTACC	0.756000													Pancreas(49;850 1106 29641 32847 38344)											0							SO:0001819	synonymous_variant			ENST00000319555.3	0	1	hg19	CCDS32502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2	1	0	0	8	57	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.909267e-01	8	57	0	9	2								-15.083780	1	1	111920	1	27	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.770000	1.000000	1.000000	0.985816	0.990000	1	9.900000e-01	1
ZFPM1	161882	broad.mit.edu	37	16	88601210	88601210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88601210G>A	ENST00000319555.3	+	10	3166	c.2844G>A	c.(2842-2844)gcG>gcA	p.A948A		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1			4					ccccgccggcgcccccCTCCT	0.791000													Pancreas(49;850 1106 29641 32847 38344)											0							SO:0001819	synonymous_variant			ENST00000319555.3	0	1	hg19	CCDS32502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2	0	0	0	13	139	0	22	0	1.309576e-01	0	7	0	22	2		0	0	0	0	0	2	1	9.996105e-01	13	139	0	21	2								-19.325850	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.630000	1.000000	1.000000	0.944605	0.990000	1	8.400000e-01	1
ZC3H18	124245	broad.mit.edu	37	16	88643732	88643732	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643732C>T	ENST00000301011.5	+	2	401	c.201C>T	c.(199-201)tcC>tcT	p.S67S	ZC3H18_ENST00000452588.2_Silent_p.S67S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18			42					ATAATCACTCCGACGAGGAGG	0.632000													Ovarian(121;375 2276 20373 38669)											0							SO:0001819	synonymous_variant			ENST00000301011.5	1	1	hg19	CCDS10967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1	52	160	0	31	1	9.999637e-01	5	46	0	31	2		0	0	0	0	0	2	1	1	51	155	0	31	2								-4.397225	1	1	121390	4	30	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H18	124245	broad.mit.edu	37	16	88643861	88643861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643861C>T	ENST00000301011.5	+	2	530	c.330C>T	c.(328-330)agC>agT	p.S110S	ZC3H18_ENST00000452588.2_Silent_p.S110S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18			42					ACCGGACAAGCGACCTTAGGG	0.632000													Ovarian(121;375 2276 20373 38669)											0							SO:0001819	synonymous_variant			ENST00000301011.5	1	1	hg19	CCDS10967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	0	7	158	0	26	0	8.670711e-01	1	84	0	26	2		0	0	0	0	0	2	1	9.795975e-01	7	155	0	25	2								-9.903525	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.560000	0.250000	1.000000	1.000000	0.594575	0.560000	0	3.900000e-01	7.900000e-01
ZC3H18	124245	broad.mit.edu	37	16	88677771	88677771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677771C>T	ENST00000301011.5	+	8	1502	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R	ZC3H18_ENST00000452588.2_Silent_p.R458R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18			42					agagggagcgcgagcgagagc	0.711000													Ovarian(121;375 2276 20373 38669)											0							SO:0001819	synonymous_variant			ENST00000301011.5	0	1	hg19	CCDS10967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	0	0	0	14	29	0	8	1	9.986562e-01	5	24	0	8	2		0	0	0	0	0	2	1	9.869402e-01	9	10	0	4	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZC3H18	124245	broad.mit.edu	37	16	88677775	88677775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677775C>T	ENST00000301011.5	+	8	1506	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R460*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18			42					ggagcgcgagcgagagcggga	0.716000													Ovarian(121;375 2276 20373 38669)											0							SO:0001587	stop_gained			ENST00000301011.5	0	1	hg19	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	c	40	8.273678	0.98737	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	.	.	.	4.22	4.22	0.49857	.	0.185891	0.45867	D	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4202	13.8736	0.63638	0.0:1.0:0.0:0.0	.	.	.	.	X	436;460	.	ENSP00000301011:R436X	R	+	1	2	ZC3H18	87205276	1.000000	0.71417	0.978000	0.43139	0.766000	0.43426	2.287000	0.43505	2.064000	0.61679	0.457000	0.33378	CGA		TCGA-IB-7651-01A-11D-2154-08	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	0	12	27	0	8	1	9.986337e-01	5	27	0	8	2		0	0	0	0	0	2	1	9.847877e-01	9	11	0	4	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
ZC3H18	124245	broad.mit.edu	37	16	88688650	88688650	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88688650G>A	ENST00000301011.5	+	9	1721	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18			42					CCACGGGGCCGCAGGTGAAGA	0.602000													Ovarian(121;375 2276 20373 38669)											0							SO:0001819	synonymous_variant			ENST00000301011.5	1	1	hg19	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	2.574	-0.298990	0.05532	0.0	1.16E-4	ENSG00000158545	ENST00000545404	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.49779	0.1577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69412	-0.5152	5	0.87932	D	0	-20.3562	3.7808	0.08680	0.3389:0.2888:0.2899:0.0825	.	.	.	.	H	331	.	ENSP00000442341:R331H	R	+	2	0	ZC3H18	87216151	0.000000	0.05858	0.119000	0.21687	0.358000	0.29455	-4.480000	0.00227	-4.082000	0.00075	-0.812000	0.03155	CGC		TCGA-IB-7651-01A-11D-2154-08	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1	66	182	0	26	1	1	12	66	0	26	2		0	0	0	0	0	2	1	1	65	182	0	26	2								-5.508754	1	1	121410	2	36	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H18	124245	broad.mit.edu	37	16	88690390	88690390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88690390G>A	ENST00000301011.5	+	11	2018	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	ZC3H18_ENST00000452588.2_Silent_p.P630P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18			42					CTTCGTCCCCGTCCCCGTCCC	0.652000													Ovarian(121;375 2276 20373 38669)											0							SO:0001819	synonymous_variant			ENST00000301011.5	1	1	hg19	CCDS10967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1	127	526	0	85	1	9.999998e-01	35	57	0	85	2		0	0	0	0	0	2	1	1	125	512	0	84	2								-20.000000	1	1	121410	1	32	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H18	124245	broad.mit.edu	37	16	88691101	88691101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88691101G>T	ENST00000301011.5	+	12	2190	c.1990G>T	c.(1990-1992)Gac>Tac	p.D664Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18			42					CAAGCCAGGAGACCCTCGGGA	0.672000													Ovarian(121;375 2276 20373 38669)											0							SO:0001583	missense			ENST00000301011.5	1	1	hg19	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746622	0.30955	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.33216	1.42;1.42	5.38	5.38	0.77491	.	0.098661	0.64402	D	0.000001	T	0.49847	0.1581	L	0.51422	1.61	0.49582	D	0.999801	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.49670	-0.8915	10	0.87932	D	0	-20.5211	17.3162	0.87225	0.0:0.0:1.0:0.0	.	688;664	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Y	664;632;688	ENSP00000301011:D664Y;ENSP00000416951:D688Y	ENSP00000289509:D632Y	D	+	1	0	ZC3H18	87218602	1.000000	0.71417	0.993000	0.49108	0.517000	0.34286	5.129000	0.64739	2.527000	0.85204	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	1	0	1	86	222	0	33	1	1	14	90	0	33	2		0	0	0	0	0	2	1	1	86	217	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL17C	27189	broad.mit.edu	37	16	88706252	88706252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706252G>T	ENST00000244241.4	+	3	415	c.366G>T	c.(364-366)caG>caT	p.Q122H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C			2					GCTATCCACAGAAGCTGGCCT	0.667000																								0							SO:0001583	missense			ENST00000244241.4	0	1	hg19	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995595	0.35226	.	.	ENSG00000124391	ENST00000244241	T	0.56611	0.45	4.66	0.998	0.19857	.	0.101773	0.42053	D	0.000763	T	0.56891	0.2016	M	0.61703	1.905	0.27750	N	0.944196	D	0.61697	0.99	P	0.55455	0.776	T	0.52419	-0.8578	10	0.56958	D	0.05	-18.9878	7.2541	0.26166	0.2758:0.159:0.5652:0.0	.	122	Q9P0M4	IL17C_HUMAN	H	122	ENSP00000244241:Q122H	ENSP00000244241:Q122H	Q	+	3	2	IL17C	87233753	0.362000	0.24980	0.648000	0.29521	0.009000	0.06853	0.326000	0.19646	0.081000	0.16988	-1.134000	0.01955	CAG		TCGA-IB-7651-01A-11D-2154-08	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	0	0	0	4	64	0	11	0	0	0	1	0	11	2		0	0	0	0	0	2	1	8.924257e-01	4	64	0	11	2								-8.503617	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.810000	0.280000	1.000000	1.000000	0.772939	0.810000	0	5.000000e-01	1
IL17C	27189	broad.mit.edu	37	16	88706264	88706264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706264C>T	ENST00000244241.4	+	3	427	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C			2					AGCTGGCCTTCGCCGAGTGCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000244241.4	1	1	hg19	CCDS42217.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	1	0	1	24	56	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.999999e-01	24	55	0	14	2								-20.000000	1	0	120148	2	31	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MVD	4597	broad.mit.edu	37	16	88721747	88721747	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88721747C>T	ENST00000301012.3	-	7	786	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase			12					GTCAGCTGGGCGAAGCTGGGG	0.642000																								0							SO:0001583	missense			ENST00000301012.3	0	1	hg19	CCDS10968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.370501|4.370501	0.82573|0.82573	.|.	.|.	ENSG00000167508|ENSG00000167508	ENST00000301012|ENST00000378400	T|.	0.37915|.	1.17|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.161617|.	0.53938|.	D|.	0.000051|.	T|T	0.78400|0.78400	0.4277|0.4277	M|M	0.80422|0.80422	2.495|2.495	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.69078|.	0.997|.	P|.	0.58520|.	0.84|.	T|T	0.82362|0.82362	-0.0495|-0.0495	10|6	0.51188|0.66056	T|D	0.08|0.02	-20.2679|-20.2679	17.6298|17.6298	0.88103|0.88103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|.	P53602|.	MVD1_HUMAN|.	T|H	253|81	ENSP00000301012:A253T|.	ENSP00000301012:A253T|ENSP00000367653:R81H	A|R	-|-	1|2	0|0	MVD|MVD	87249248|87249248	0.982000|0.982000	0.34865|0.34865	0.039000|0.039000	0.18376|0.18376	0.432000|0.432000	0.31715|0.31715	5.257000|5.257000	0.65473|0.65473	2.244000|2.244000	0.73946|0.73946	0.491000|0.491000	0.48974|0.48974	GCC|CGC		TCGA-IB-7651-01A-11D-2154-08	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	0	0	1	8	73	0	14	1	9.997654e-01	30	137	0	14	2		0	0	0	0	0	2	1	9.906008e-01	8	73	0	14	2								-6.415709	1	1	120718	9	32	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.620000	1.000000	1.000000	0.959629	0.990000	1	9.100000e-01	1
MVD	4597	broad.mit.edu	37	16	88723885	88723885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88723885G>A	ENST00000301012.3	-	4	391	c.362C>T	c.(361-363)gCt>gTt	p.A121V	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase			12					CAGGCCCGCAGCCGTGGGGAA	0.687000																								0							SO:0001583	missense			ENST00000301012.3	0	1	hg19	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450964	0.84209	.	.	ENSG00000167508	ENST00000301012	D	0.86297	-2.1	5.18	5.18	0.71444	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.104735	0.64402	D	0.000003	D	0.95370	0.8497	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.96491	0.9364	10	0.87932	D	0	-19.8806	18.6462	0.91410	0.0:0.0:1.0:0.0	.	121	P53602	MVD1_HUMAN	V	121	ENSP00000301012:A121V	ENSP00000301012:A121V	A	-	2	0	MVD	87251386	1.000000	0.71417	0.954000	0.39281	0.274000	0.26718	6.912000	0.75753	2.574000	0.86865	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	0	0	0	6	148	0	13	1	9.544215e-01	11	129	0	13	2		0	0	0	0	0	2	1	9.637592e-01	6	145	0	12	2								-9.030918	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.520000	0.220000	0.990000	1.000000	0.556974	0.520000	0	3.500000e-01	7.500000e-01
SNAI3	333929	broad.mit.edu	37	16	88744989	88744989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88744989C>T	ENST00000332281.5	-	3	832	c.746G>A	c.(745-747)cGc>cAc	p.R249H	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3			6					AAGGTTGGAGCGGTCGGCAAA	0.647000													Colon(27;366 710 19748 23199 27567)											0							SO:0001583	missense			ENST00000332281.5	1	1	hg19	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054378	0.93793	.	.	ENSG00000185669	ENST00000332281	T	0.36157	1.27	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.38733	1.17	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.49184	-0.8966	10	0.48119	T	0.1	-54.8198	17.6108	0.88053	0.0:1.0:0.0:0.0	.	249	Q3KNW1	SNAI3_HUMAN	H	249	ENSP00000327968:R249H	ENSP00000327968:R249H	R	-	2	0	SNAI3	87272490	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.647000	0.67923	2.521000	0.84997	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1	1	0	1	31	201	0	38	0	5.420938e-01	1	12	0	38	2		0	0	0	0	0	2	1	1	31	196	0	38	2								-20.000000	1	1	121238	3	33	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
SNAI3	333929	broad.mit.edu	37	16	88747821	88747821	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88747821C>T	ENST00000332281.5	-	2	464	c.378G>A	c.(376-378)ccG>ccA	p.P126P	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3			6					GGCCCAAGGTCGGGGACCACC	0.677000													Colon(27;366 710 19748 23199 27567)											0							SO:0001819	synonymous_variant			ENST00000332281.5	1	1	hg19	CCDS32505.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1	1	0	0	48	833	0	146	0	1.611726e-01	1	12	0	146	2		0	0	0	0	0	2	1	1	47	820	0	140	2								-7.187770	1	1	121366	4	41	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.690000	0.510000	0.890000	0.690000	0.705612	0.690000	0	6.000000e-01	8.000000e-01
TMEM186	25880	broad.mit.edu	37	16	8890416	8890416	+	Missense_Mutation	SNP	C	C	T	rs147051924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8890416C>T	ENST00000333050.6	-	2	68	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	PMM2_ENST00000569958.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186			9					AGCTTTTCCCCGAAACCTACG	0.552000																								0							SO:0001583	missense			ENST00000333050.6	0	1	hg19	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255064	0.22965	2.28E-4	0.0	ENSG00000184857	ENST00000333050	.	.	.	5.05	-7.42	0.01388	.	1.353990	0.05738	N	0.600896	T	0.07548	0.0190	N	0.00926	-1.1	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.25572	-1.0128	9	0.21540	T	0.41	-7.2867	4.1844	0.10392	0.0928:0.1276:0.2435:0.5362	.	12	Q96B77	TM186_HUMAN	Q	12	.	ENSP00000331640:R12Q	R	-	2	0	TMEM186	8797917	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.672000	0.01952	-0.985000	0.03503	-0.818000	0.03119	CGG		TCGA-IB-7651-01A-11D-2154-08	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	0	0	0	9	375	0	78	0	5.454263e-01	1	71	0	78	2		0	0	0	0	0	2	1	9.939258e-01	9	369	0	78	2								-3.053878	1	1	121412	1	36	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.310000	0.140000	1.000000	0.280000	0.428135	0.310000	0	2.100000e-01	1
TRAPPC2L	51693	broad.mit.edu	37	16	88925046	88925046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88925046G>A	ENST00000301021.3	+	2	118	c.53G>A	c.(52-54)cGc>cAc	p.R18H	GALNS_ENST00000542788.1_5'Flank|GALNS_ENST00000568311.1_5'Flank|TRAPPC2L_ENST00000565504.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000561840.1_Intron|GALNS_ENST00000268695.5_5'Flank|GALNS_ENST00000565364.1_5'Flank|GALNS_ENST00000569433.1_5'Flank|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like			6					CTCTACATTCGCAGCACCCCT	0.557000											OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000301021.3	1	1	hg19	CCDS10971.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214329	0.39102	.	.	ENSG00000167515	ENST00000301021	D	0.83250	-1.7	5.23	5.23	0.72850	Longin-like (1);	0.055567	0.64402	N	0.000001	T	0.77785	0.4182	L	0.50333	1.59	0.80722	D	1	B;B	0.32573	0.084;0.376	B;B	0.30572	0.016;0.117	T	0.75833	-0.3178	10	0.35671	T	0.21	-13.922	13.1498	0.59482	0.0783:0.0:0.9217:0.0	.	18;18	Q9UL33-2;Q9UL33	.;TPC2L_HUMAN	H	18	ENSP00000301021:R18H	ENSP00000301021:R18H	R	+	2	0	TRAPPC2L	87452547	1.000000	0.71417	0.998000	0.56505	0.102000	0.19082	4.661000	0.61518	2.602000	0.87976	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269542.1	1	0	1	270	745	0	218	1	1	104	197	0	218	2		0	0	0	0	0	2	1	1	268	729	0	216	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBFA2T3	863	broad.mit.edu	37	16	88945800	88945800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88945800G>A	ENST00000268679.4	-	11	1936	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R428C|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R428C	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3			17					TGCGCTTTGCGCTCCGCGTCC	0.662000			T	RUNX1	AML										Dom	yes		16	16q24	863	core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)		L	0							SO:0001583	missense			ENST00000268679.4	0	1	hg19	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469413	0.63625	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.954	T	0.70920	-0.4741	10	0.87932	D	0	-21.2643	17.6401	0.88133	0.0:0.0:1.0:0.0	.	514;428	O75081;O75081-2	MTG16_HUMAN;.	C	428;514;476;438;428	ENSP00000332122:R428C;ENSP00000268679:R514C;ENSP00000395739:R476C;ENSP00000401254:R438C;ENSP00000353449:R428C	ENSP00000268679:R514C	R	-	1	0	CBFA2T3	87473301	1.000000	0.71417	0.743000	0.31040	0.208000	0.24298	5.889000	0.69766	2.145000	0.66743	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	0	0	0	8	371	0	60	0	2.852918e-02	0	11	0	60	2		0	0	0	0	0	2	1	9.889635e-01	8	366	0	60	2								-7.770924	1	1	121326	3	34	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.280000	0.130000	0.500000	0.270000	0.298942	0.280000	0	1.900000e-01	3.900000e-01
CBFA2T3	863	broad.mit.edu	37	16	88951484	88951484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88951484G>A	ENST00000268679.4	-	7	1483	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|RP11-830F9.5_ENST00000565053.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3			17					CGTAGCTCCCGGGGGTCTGGG	0.687000			T	RUNX1	AML										Dom	yes		16	16q24	863	core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)		L	0							SO:0001583	missense			ENST00000268679.4	1	1	hg19	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133312	0.56828	0.0	1.16E-4	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.57273	1.04;0.41;0.69;1.04;1.04	4.12	4.12	0.48240	.	0.331834	0.26719	N	0.022859	T	0.69931	0.3166	M	0.78637	2.42	0.47905	D	0.999547	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	P;P;P;P	0.60415	0.874;0.614;0.762;0.858	T	0.76457	-0.2952	10	0.87932	D	0	-13.385	16.5087	0.84278	0.0:0.0:1.0:0.0	.	325;363;363;277	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	W	277;363;325;287;277	ENSP00000332122:R277W;ENSP00000268679:R363W;ENSP00000395739:R325W;ENSP00000401254:R287W;ENSP00000353449:R277W	ENSP00000268679:R363W	R	-	1	2	CBFA2T3	87478985	1.000000	0.71417	0.967000	0.41034	0.075000	0.17131	1.216000	0.32443	2.282000	0.76494	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	1	0	1	69	160	0	34	0	8.040424e-01	0	9	0	34	2		0	0	0	0	0	2	1	1	69	155	0	33	2								-6.722993	1	1	120346	7	38	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMM2	5373	broad.mit.edu	37	16	8900240	8900240	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8900240C>T	ENST00000268261.4	+	4	389	c.323C>T	c.(322-324)gCg>gTg	p.A108V	PMM2_ENST00000569958.1_Intron|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.A81V|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2			9					AGCTACATTGCGAAAATTAAA	0.408000													Esophageal Squamous(154;1308 1842 2827 29799 42829)											0		GRCh37	CM971223	PMM2	M		SO:0001583	missense			ENST00000268261.4	1	1	hg19	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335558	0.60853	.	.	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.98777	-5.13;-5.13	5.56	5.56	0.83823	HAD-like domain (1);	0.152193	0.64402	D	0.000017	D	0.97939	0.9322	M	0.85859	2.78	0.80722	D	1	B;B;P	0.37781	0.033;0.393;0.608	B;B;B	0.31101	0.004;0.124;0.07	D	0.98847	1.0757	10	0.59425	D	0.04	-10.7806	18.5214	0.90954	0.0:1.0:0.0:0.0	.	25;108;108	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	V	108;25	ENSP00000268261:A108V;ENSP00000445879:A25V	ENSP00000268261:A108V	A	+	2	0	PMM2	8807741	0.975000	0.34042	0.250000	0.24296	0.890000	0.51754	2.371000	0.44248	2.608000	0.88229	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	1	0	1	63	268	0	56	1	1	73	192	0	56	2		0	0	0	0	0	2	1	1	63	265	0	56	2								-3.329575	1	1	121412	2	33	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSF3	197322	broad.mit.edu	37	16	89167209	89167209	+	Silent	SNP	G	G	A	rs34972688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167209G>A	ENST00000317447.4	+	3	497	c.120G>A	c.(118-120)tcG>tcA	p.S40S	ACSF3_ENST00000406948.3_Silent_p.S40S|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3			15					TGGCCCGCTCGGACAGGAGCG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000317447.4	1	1	hg19	CCDS10974.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	1	0	1	65	261	0	47	1	9.969735e-01	7	31	0	47	2		0	0	0	0	0	2	1	1	63	259	0	47	2								-3.328488	1	1	121374	34	45	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSF3	197322	broad.mit.edu	37	16	89167319	89167319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167319G>A	ENST00000317447.4	+	3	607	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3			15					CGCAGCCTTCGCCTGTCCCAG	0.652000																								0							SO:0001583	missense			ENST00000317447.4	1	1	hg19	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	8.880	0.951502	0.18431	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.51071	0.72;0.72;0.72	5.27	2.27	0.28462	AMP-dependent synthetase/ligase (1);	0.754413	0.13650	N	0.372372	T	0.49253	0.1546	M	0.87682	2.9	0.09310	N	1	B	0.22983	0.078	B	0.21546	0.035	T	0.49808	-0.8900	10	0.49607	T	0.09	-11.1186	5.0448	0.14477	0.3073:0.1421:0.5507:0.0	.	77	Q4G176	ACSF3_HUMAN	H	77	ENSP00000320646:R77H;ENSP00000440734:R77H;ENSP00000384627:R77H	ENSP00000320646:R77H	R	+	2	0	ACSF3	87694820	0.002000	0.14202	0.222000	0.23844	0.268000	0.26511	1.032000	0.30178	0.235000	0.21160	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	1	0	1	55	292	0	48	1	9.988102e-01	14	42	0	48	2		0	0	0	0	0	2	1	1	55	281	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSF3	197322	broad.mit.edu	37	16	89167347	89167347	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167347C>T	ENST00000317447.4	+	3	635	c.258C>T	c.(256-258)tgC>tgT	p.C86C	ACSF3_ENST00000406948.3_Silent_p.C86C|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3			15					GCAGGCTCTGCGGGTGTGTCG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000317447.4	1	1	hg19	CCDS10974.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	1	0	1	24	372	0	63	1	8.289090e-01	5	47	0	63	2		0	0	0	0	0	2	1	9.999994e-01	23	352	0	57	2								-3.142487	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.770000	0.510000	1.000000	1.000000	0.786699	0.770000	0	6.300000e-01	9.400000e-01
ACSF3	197322	broad.mit.edu	37	16	89167414	89167414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167414G>A	ENST00000317447.4	+	3	702	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3			15					TGCCTCCTACGTCGTGGCCCA	0.647000																								0							SO:0001583	missense			ENST00000317447.4	1	1	hg19	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946386	0.53079	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	AMP-dependent synthetase/ligase (1);	0.163204	0.56097	D	0.000040	T	0.54532	0.1864	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.57720	0.826	T	0.51356	-0.8716	10	0.41790	T	0.15	-40.9689	18.891	0.92403	0.0:0.0:1.0:0.0	.	109	Q4G176	ACSF3_HUMAN	I	109	ENSP00000320646:V109I;ENSP00000440734:V109I;ENSP00000384627:V109I	ENSP00000320646:V109I	V	+	1	0	ACSF3	87694915	1.000000	0.71417	0.113000	0.21522	0.035000	0.12851	4.632000	0.61311	2.460000	0.83146	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	1	0	1	95	309	0	58	1	9.983666e-01	5	29	0	58	2		0	0	0	0	0	2	1	1	95	305	0	58	2								-20.000000	1	0	121412	1	34	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH15	1013	broad.mit.edu	37	16	89256724	89256724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256724C>A	ENST00000289746.2	+	8	1117	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)			18					CTGCAGGCGGCTGCCCTTAGG	0.627000																								0							SO:0001583	missense			ENST00000289746.2	1	1	hg19	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333505	0.24167	.	.	ENSG00000129910	ENST00000289746	T	0.50277	0.75	4.37	2.29	0.28610	Cadherin (4);Cadherin-like (1);	0.785759	0.10424	U	0.676280	T	0.36963	0.0986	N	0.26042	0.785	0.09310	N	1	P	0.41188	0.741	B	0.42692	0.395	T	0.15037	-1.0451	10	0.36615	T	0.2	.	8.5853	0.33655	0.0:0.7586:0.1529:0.0885	.	351	P55291	CAD15_HUMAN	D	351	ENSP00000289746:A351D	ENSP00000289746:A351D	A	+	2	0	CDH15	87784225	0.039000	0.19947	0.001000	0.08648	0.015000	0.08874	2.379000	0.44318	0.832000	0.34804	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	1	0	1	41	95	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	1	40	93	0	18	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH15	1013	broad.mit.edu	37	16	89256765	89256765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256765C>T	ENST00000289746.2	+	8	1158	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)			18					GGTCCGCGTGCATGTGCAGGA	0.652000																								0							SO:0001583	missense			ENST00000289746.2	0	1	hg19	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	4.633	0.117686	0.08881	.	.	ENSG00000129910	ENST00000289746	T	0.51817	0.69	4.37	-0.792	0.10925	Cadherin (4);Cadherin-like (2);	1.865220	0.03230	U	0.178773	T	0.30293	0.0760	N	0.19112	0.55	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.28744	-1.0034	10	0.66056	D	0.02	.	1.7201	0.02910	0.3857:0.3398:0.1466:0.1279	.	365	P55291	CAD15_HUMAN	Y	365	ENSP00000289746:H365Y	ENSP00000289746:H365Y	H	+	1	0	CDH15	87784266	0.000000	0.05858	0.009000	0.14445	0.024000	0.10985	-1.673000	0.01951	0.176000	0.19873	0.555000	0.69702	CAT		TCGA-IB-7651-01A-11D-2154-08	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	0	0	0	8	139	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.884751e-01	8	134	0	20	2								-11.602350	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.720000	0.340000	1.000000	1.000000	0.729151	0.720000	0	5.000000e-01	9.800000e-01
CDH15	1013	broad.mit.edu	37	16	89256843	89256843	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256843G>T	ENST00000289746.2	+	8	1236	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)			18					GGCACCCCCAGGCACTCTGGT	0.672000																								0							SO:0001583	missense			ENST00000289746.2	1	1	hg19	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697553	0.48307	.	.	ENSG00000129910	ENST00000289746	T	0.70399	-0.48	4.52	4.52	0.55395	Cadherin (3);Cadherin-like (1);	0.000000	0.52532	D	0.000070	D	0.87111	0.6096	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90522	0.4489	10	0.87932	D	0	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	391	P55291	CAD15_HUMAN	C	391	ENSP00000289746:G391C	ENSP00000289746:G391C	G	+	1	0	CDH15	87784344	1.000000	0.71417	0.134000	0.22075	0.003000	0.03518	7.457000	0.80775	2.064000	0.61679	0.455000	0.32223	GGC		TCGA-IB-7651-01A-11D-2154-08	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	1	0	1	23	70	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999998e-01	23	68	0	15	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89341252	89341252	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341252G>A	ENST00000301030.4	-	11	8143	c.7683C>T	c.(7681-7683)tcC>tcT	p.S2561S	ANKRD11_ENST00000378330.2_Silent_p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			TGTAGACCTCGGAGTCCAGCA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000301030.4	1	1	hg19	CCDS32513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1	119	353	0	72	1	1	13	69	0	72	2		0	0	0	0	0	2	1	1	118	348	0	71	2								-5.352826	1	0	121410	4	40	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89341273	89341273	+	Silent	SNP	G	G	T	rs139657234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341273G>T	ENST00000301030.4	-	11	8122	c.7662C>A	c.(7660-7662)gcC>gcA	p.A2554A	ANKRD11_ENST00000378330.2_Silent_p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			GCATCGTGCAGGCGCTGAATG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000301030.4	1	1	hg19	CCDS32513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	0	0	16	447	0	67	1	9.591039e-01	8	143	0	67	2		0	0	0	0	0	2	1	9.999319e-01	17	443	0	65	2								-15.366140	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.440000	0.260000	0.680000	0.450000	0.463390	0.440000	0	3.400000e-01	5.700000e-01
ANKRD11	29123	broad.mit.edu	37	16	89345738	89345738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89345738C>T	ENST00000301030.4	-	9	7672	c.7212G>A	c.(7210-7212)acG>acA	p.T2404T	ANKRD11_ENST00000378330.2_Silent_p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			GCGTCTGCTGCGTGGACGTGT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000301030.4	1	1	hg19	CCDS32513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0	20	152	0	37	1	9.365156e-01	4	34	0	37	2		0	0	0	0	0	2	1	9.999961e-01	20	149	0	40	2								-20.000000	1	1	121380	1	27	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.950000	1.000000	1.000000	0.996745	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89346638	89346638	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346638G>A	ENST00000301030.4	-	9	6772	c.6312C>T	c.(6310-6312)gaC>gaT	p.D2104D	ANKRD11_ENST00000378330.2_Silent_p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	p.D2104D(1)		83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			CGCGGCTGCCGTCCAGGAAGC	0.726000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000301030.4	1	1	hg19	CCDS32513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0	59	149	0	21	1	9.999743e-01	14	30	0	21	2		0	0	0	0	0	2	1	1	59	146	0	21	2								-20.000000	1	0	119232	5	34	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89346643	89346643	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346643G>T	ENST00000301030.4	-	9	6767	c.6307C>A	c.(6307-6309)Ctg>Atg	p.L2103M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			CTGCCGTCCAGGAAGCTATTT	0.716000																								0							SO:0001583	missense			ENST00000301030.4	0	1	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.969239	0.34754	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39056	1.1;1.1	5.29	3.06	0.35304	.	0.510157	0.17790	N	0.161903	T	0.20373	0.0490	N	0.19112	0.55	0.80722	D	1	B	0.30406	0.278	B	0.21360	0.034	T	0.10989	-1.0606	10	0.33141	T	0.24	.	3.321	0.07050	0.1492:0.0:0.3929:0.4579	.	2103	Q6UB99	ANR11_HUMAN	M	2103	ENSP00000301030:L2103M;ENSP00000367581:L2103M	ENSP00000301030:L2103M	L	-	1	2	ANKRD11	87874144	0.995000	0.38212	1.000000	0.80357	0.343000	0.28985	0.831000	0.27476	2.475000	0.83589	0.450000	0.29827	CTG		TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0	25	186	0	22	1	9.768585e-01	10	38	0	22	2		0	0	0	0	0	2	1	9.999999e-01	24	186	0	22	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998596	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			GGCGGCCGTCGCCTGCTGGTC	0.677000																								0							SO:0001583	missense			ENST00000301030.4	1	1	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	19.57	3.851632	0.71719	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43688	0.94;0.94	4.98	4.98	0.66077	.	0.105490	0.37715	N	0.001964	T	0.48466	0.1501	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.54815	0.761	T	0.51601	-0.8685	10	0.62326	D	0.03	.	17.8938	0.88880	0.0:0.0:1.0:0.0	.	1919	Q6UB99	ANR11_HUMAN	V	1919	ENSP00000301030:A1919V;ENSP00000367581:A1919V	ENSP00000301030:A1919V	A	-	2	0	ANKRD11	87874695	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	5.064000	0.64338	2.301000	0.77427	0.450000	0.29827	GCG		TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0	63	337	0	61	1	9.999951e-01	32	65	0	61	2		0	0	0	0	0	2	1	1	62	331	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89347666	89347666	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347666C>T	ENST00000301030.4	-	9	5744	c.5284G>A	c.(5284-5286)Gac>Aac	p.D1762N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			GAGAACCTGTCGAAAAAGGAG	0.637000																								0							SO:0001583	missense			ENST00000301030.4	1	1	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.299473	0.81136	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.43294	0.95;0.95	4.9	4.9	0.64082	.	0.226096	0.35436	N	0.003218	T	0.30665	0.0772	L	0.34521	1.04	0.80722	D	1	P	0.37864	0.61	B	0.23574	0.047	T	0.30149	-0.9988	10	0.72032	D	0.01	.	16.8476	0.85985	0.0:1.0:0.0:0.0	.	1762	Q6UB99	ANR11_HUMAN	N	1762	ENSP00000301030:D1762N;ENSP00000367581:D1762N	ENSP00000301030:D1762N	D	-	1	0	ANKRD11	87875167	1.000000	0.71417	0.988000	0.46212	0.877000	0.50540	4.278000	0.58946	2.266000	0.75297	0.457000	0.33378	GAC		TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1	123	361	0	66	1	1	27	74	0	66	2		0	0	0	0	0	2	1	1	121	350	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89348197	89348197	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348197T>G	ENST00000301030.4	-	9	5213	c.4753A>C	c.(4753-4755)Agg>Cgg	p.R1585R	ANKRD11_ENST00000378330.2_Silent_p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			GACAGCATCCTCTCGAAGCTG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000301030.4	1	1	hg19	CCDS32513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	0	20	467	0	66	1	9.334664e-01	5	104	0	66	2		0	0	0	0	0	2	1	9.999946e-01	20	459	0	66	2								-19.399710	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.530000	0.330000	0.770000	0.510000	0.544497	0.530000	0	4.200000e-01	6.600000e-01
ANKRD11	29123	broad.mit.edu	37	16	89348524	89348524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348524G>A	ENST00000301030.4	-	9	4886	c.4426C>T	c.(4426-4428)Cac>Tac	p.H1476Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			CTGTCCCGGTGCctctccttc	0.552000																								0							SO:0001583	missense			ENST00000301030.4	1	1	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397951	0.25205	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	5.11	5.11	0.69529	.	0.312185	0.31847	N	0.006979	T	0.36690	0.0976	L	0.55103	1.725	0.80722	D	1	P	0.45283	0.855	B	0.37650	0.255	T	0.40251	-0.9573	10	0.62326	D	0.03	.	18.4974	0.90870	0.0:0.0:1.0:0.0	.	1476	Q6UB99	ANR11_HUMAN	Y	1476	ENSP00000301030:H1476Y;ENSP00000367581:H1476Y	ENSP00000301030:H1476Y	H	-	1	0	ANKRD11	87876025	1.000000	0.71417	0.143000	0.22291	0.004000	0.04260	5.766000	0.68843	2.530000	0.85305	0.563000	0.77884	CAC		TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1	60	242	0	36	1	1	35	114	0	36	2		0	0	0	0	0	2	1	1	60	233	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89348801	89348801	+	Silent	SNP	G	G	A	rs146025366	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348801G>A	ENST00000301030.4	-	9	4609	c.4149C>T	c.(4147-4149)ggC>ggT	p.G1383G	ANKRD11_ENST00000378330.2_Silent_p.G1383G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			TCCTGCTACCGCCCTCCTTGT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000301030.4	1	0	hg19	CCDS32513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	0	1	133	588	0	82	1	9.999988e-01	23	62	0	82	2		0	0	0	0	0	2	1	1	128	576	0	81	2								-2.757961	1	1	121412	301	58	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89349137	89349137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89349137C>T	ENST00000301030.4	-	9	4273	c.3813G>A	c.(3811-3813)tcG>tcA	p.S1271S	ANKRD11_ENST00000378330.2_Silent_p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			CGGCACTTCTCGAGGACTTCC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000301030.4	1	1	hg19	CCDS32513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1	84	430	0	51	1	1	28	123	0	51	2		0	0	0	0	0	2	1	1	83	423	0	51	2								-2.887758	1	1	121412	2	34	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD11	29123	broad.mit.edu	37	16	89350530	89350530	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89350530A>C	ENST00000301030.4	-	9	2880	c.2420T>G	c.(2419-2421)gTt>gGt	p.V807G	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			TTCCCTATAAACCTTTTCTTT	0.313000																								0							SO:0001583	missense			ENST00000301030.4	1	1	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	0.971	-0.700084	0.03279	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.38560	1.13;1.13	5.66	-0.892	0.10570	.	0.755412	0.12064	N	0.502858	T	0.22589	0.0545	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.25882	-1.0119	10	0.15952	T	0.53	.	6.1812	0.20472	0.3566:0.366:0.2774:0.0	.	426;807	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	G	807;807;426	ENSP00000301030:V807G;ENSP00000367581:V807G	ENSP00000301030:V807G	V	-	2	0	ANKRD11	87878031	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	0.721000	0.25911	-0.456000	0.07043	-0.441000	0.05720	GTT		TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1	10	185	0	35	1	9.342338e-01	13	77	0	35	2		0	0	0	0	0	2	1	9.968712e-01	10	182	0	35	2								-13.125040	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.670000	0.340000	1.000000	1.000000	0.690747	0.670000	0	4.900000e-01	8.900000e-01
ANKRD11	29123	broad.mit.edu	37	16	89357207	89357207	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89357207A>G	ENST00000301030.4	-	6	887	c.427T>C	c.(427-429)Tct>Cct	p.S143P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S143P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			CACACTGTAGACTGGGAGGGG	0.557000																								0							SO:0001583	missense			ENST00000301030.4	1	1	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234037	0.79688	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.41758	0.99;0.99	5.3	4.18	0.49190	.	0.061993	0.64402	D	0.000003	T	0.54679	0.1873	L	0.43152	1.355	0.80722	D	1	D;P;D	0.71674	0.998;0.492;0.99	D;B;D	0.77557	0.99;0.287;0.972	T	0.55673	-0.8104	10	0.72032	D	0.01	.	12.1198	0.53885	0.8237:0.1763:0.0:0.0	.	143;157;143	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	P	143;143;157	ENSP00000301030:S143P;ENSP00000367581:S143P	ENSP00000301030:S143P	S	-	1	0	ANKRD11	87884708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.796000	0.62496	0.890000	0.36211	0.459000	0.35465	TCT		TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	0	0	25	725	0	88	1	8.933651e-01	6	109	0	88	2		0	0	0	0	0	2	1	9.999998e-01	25	713	0	88	2								-3.813471	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.420000	0.280000	0.610000	0.420000	0.439419	0.420000	0	3.400000e-01	5.200000e-01
ANKRD11	29123	broad.mit.edu	37	16	89371699	89371699	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89371699G>A	ENST00000301030.4	-	4	601	c.141C>T	c.(139-141)ggC>ggT	p.G47G	ANKRD11_ENST00000378330.2_Silent_p.G47G|ANKRD11_ENST00000563291.1_Silent_p.G47G|ANKRD11_ENST00000567736.1_5'UTR	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	p.G47G(1)		83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			CCTCCTTCCCGCCATCGCCAC	0.557000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000301030.4	1	1	hg19	CCDS32513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	1	0	1	102	277	1	60	1	1	82	145	1	60	14		0	0	0	0	0	2	1	1	99	269	1	59	20								-6.210327	1	1	121412	2	35	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARHSP1	23589	broad.mit.edu	37	16	8953039	8953039	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8953039C>T	ENST00000396593.2	-	2	506	c.147G>A	c.(145-147)agG>agA	p.R49R	CARHSP1_ENST00000567626.1_5'Flank|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Silent_p.R49R|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000567554.1_Silent_p.R49R	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa			3					CCGAGAAGGTCCTCGTCCGGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000396593.2	1	0	hg19	CCDS10537.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	0	0	1	19	99	0	19	1	1	167	426	0	19	2		0	0	0	0	0	2	1	9.999914e-01	19	93	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	0.999777	0.990000	1	9.900000e-01	1
SPG7	6687	broad.mit.edu	37	16	89598955	89598955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89598955C>T	ENST00000268704.2	+	9	1250	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Missense_Mutation_p.A412V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)			20		all_hematologic(23;0.00824)|Colorectal(91;0.102)			GAGATCGACGCGGTGGGCAAG	0.627000																								0							SO:0001583	missense			ENST00000268704.2	1	1	hg19	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747758	0.89663	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94138	-3.36;-3.36	5.45	5.45	0.79879	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.048162	0.85682	D	0.000000	D	0.96781	0.8949	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97102	0.9798	10	0.87932	D	0	-1.6581	19.3347	0.94312	0.0:1.0:0.0:0.0	.	412;412	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	V	412	ENSP00000268704:A412V;ENSP00000341157:A412V	ENSP00000268704:A412V	A	+	2	0	SPG7	88126456	1.000000	0.71417	0.235000	0.24058	0.352000	0.29268	7.455000	0.80726	2.571000	0.86741	0.456000	0.33151	GCG		TCGA-IB-7651-01A-11D-2154-08	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	0	0	1	74	351	1	83	1	9.998442e-01	32	89	1	83	7		0	0	0	0	0	2	1	1	74	340	1	82	17								-20.000000	1	1	121402	1	33	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPG7	6687	broad.mit.edu	37	16	89619414	89619414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89619414G>A	ENST00000268704.2	+	14	1822	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)			20		all_hematologic(23;0.00824)|Colorectal(91;0.102)			GACAAACGCCGCCCTGGGCTT	0.602000																								0							SO:0001583	missense			ENST00000268704.2	1	1	hg19	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360229	0.82353	0.0	1.16E-4	ENSG00000197912	ENST00000268704;ENST00000312613	D	0.87103	-2.21	5.84	5.84	0.93424	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.94082	0.8103	M	0.86864	2.845	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.94351	0.7579	10	0.87932	D	0	1.556	20.1278	0.97990	0.0:0.0:1.0:0.0	.	603	Q9UQ90	SPG7_HUMAN	T	603;193	ENSP00000268704:A603T	ENSP00000268704:A603T	A	+	1	0	SPG7	88146915	1.000000	0.71417	0.206000	0.23566	0.184000	0.23303	7.745000	0.85046	2.768000	0.95171	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	1	0	1	41	141	0	50	1	1	72	111	0	50	2		0	0	0	0	0	2	1	1	40	140	0	50	2								-20.000000	1	1	121412	3	38	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPNE7	27132	broad.mit.edu	37	16	89661804	89661804	+	Silent	SNP	C	C	T	rs144641606	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89661804C>T	ENST00000268720.5	+	16	1687	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	CPNE7_ENST00000319518.8_Silent_p.D444D|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII			17		all_hematologic(23;0.0748)			TCCTGACGGACGGCGTGGTGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000268720.5	1	0	hg19	CCDS10980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2	1	0	1	70	233	0	66	1	9.604665e-01	4	16	0	66	2		0	0	0	0	0	2	1	1	69	228	0	66	2								-2.754829	1	1	121130	159	52	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPEP1	1800	broad.mit.edu	37	16	89703612	89703612	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89703612C>T	ENST00000393092.3	+	7	883	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	DPEP1_ENST00000421184.1_Splice_Site_p.R198C|DPEP1_ENST00000261615.4_Splice_Site_p.R198C	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)			14		all_lung(18;0.0054)|all_hematologic(23;0.094)		Cilastatin(DB01597)	GTCTTCCCAGCGTGTGGTGAA	0.652000																								0							SO:0001630	splice_region_variant			ENST00000393092.3	0	1	hg19	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447057	0.84101	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24723	1.84;1.84;1.84	5.14	-4.67	0.03319	.	0.985709	0.08297	N	0.967567	T	0.40398	0.1115	M	0.74881	2.28	0.32834	D	0.504453	D	0.89917	1.0	D	0.68039	0.955	T	0.56884	-0.7905	9	.	.	.	-5.7528	4.4237	0.11493	0.3622:0.413:0.1444:0.0804	.	198	P16444	DPEP1_HUMAN	C	198	ENSP00000397313:R198C;ENSP00000376807:R198C;ENSP00000261615:R198C	.	R	+	1	0	DPEP1	88231113	0.000000	0.05858	0.002000	0.10522	0.894000	0.52154	-1.050000	0.03510	-0.492000	0.06687	0.436000	0.28706	CGT		TCGA-IB-7651-01A-11D-2154-08	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	0	0	0	15	414	0	69	0	9.917177e-01	0	219	0	69	2		0	0	0	0	0	2	1	9.998652e-01	15	409	0	69	2								-14.302690	1	1	120962	4	35	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.450000	0.260000	0.700000	0.450000	0.470270	0.450000	0	3.500000e-01	5.800000e-01
CDK10	8558	broad.mit.edu	37	16	89758865	89758865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89758865C>T	ENST00000353379.7	+	6	469	c.426C>T	c.(424-426)tgC>tgT	p.C142C	CDK10_ENST00000505473.1_Silent_p.C71C|CDK10_ENST00000331006.8_Silent_p.C95C	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10			1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)			AGGTCAAGTGCATCGTGCTGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000353379.7	1	1	hg19	CCDS10984.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2	1	0	0	93	305	0	65	1	9.999999e-01	29	52	0	65	2		0	0	0	0	0	2	1	1	91	302	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK10	8558	broad.mit.edu	37	16	89759861	89759861	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89759861G>T	ENST00000353379.7	+	8	637	c.594G>T	c.(592-594)aaG>aaT	p.K198N	CDK10_ENST00000505473.1_Missense_Mutation_p.K127N|CDK10_ENST00000331006.8_Missense_Mutation_p.K151N	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	p.K198N(1)		1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)			TGACCCCCAAGGTGGTCACTC	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000353379.7	1	1	hg19	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942347	0.18281	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.42900	0.96;0.96;0.96	4.97	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162260	0.52532	D	0.000066	T	0.18045	0.0433	N	0.05199	-0.095	0.49389	D	0.99978	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.004	T	0.05451	-1.0884	10	0.17832	T	0.49	-38.7351	6.7509	0.23487	0.3406:0.0:0.6594:0.0	.	198;127;127	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	N	151;169;127;198	ENSP00000329957:K151N;ENSP00000424415:K127N;ENSP00000338673:K198N	ENSP00000329957:K151N	K	+	3	2	CDK10	88287362	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.674000	0.46867	1.325000	0.45301	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2	1	0	1	104	234	0	68	1	1	50	65	0	68	2		0	0	0	0	0	2	1	1	104	229	0	67	2								-9.260384	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPATA2L	124044	broad.mit.edu	37	16	89764195	89764195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764195C>T	ENST00000289805.5	-	3	890	c.822G>A	c.(820-822)ggG>ggA	p.G274G	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like			6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)			AGGCCCGGCCCCCAGTGCCCC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000289805.5	1	1	hg19	CCDS10985.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	1	0	1	19	70	0	15	1	9.999259e-01	21	44	0	15	2		0	0	0	0	0	2	1	9.999960e-01	19	70	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SPATA2L	124044	broad.mit.edu	37	16	89764461	89764461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764461G>A	ENST00000289805.5	-	3	624	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like			6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)			CTGGCACGCCGTGCCTGCAGC	0.726000																								0							SO:0001583	missense			ENST00000289805.5	1	1	hg19	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259451	0.59321	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.72	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.71082	0.3298	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72802	-0.4183	9	0.87932	D	0	.	11.473	0.50280	0.0:0.0:0.8048:0.1952	.	186	Q8IUW3	SPA2L_HUMAN	W	186	.	ENSP00000289805:R186W	R	-	1	2	SPATA2L	88291962	0.081000	0.21417	0.688000	0.30117	0.605000	0.37080	0.617000	0.24359	0.887000	0.36136	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	1	0	1	26	154	0	33	1	4.965341e-01	8	3	0	33	2		0	0	0	0	0	2	1	9.999999e-01	26	149	0	32	2								-20.000000	1	1	120094	2	20	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999925	0.990000	1	9.900000e-01	1
FANCA	2175	broad.mit.edu	37	16	89807275	89807275	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89807275C>T	ENST00000389301.3	-	38	3796		c.e38-1		ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Splice_Site	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A			47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)			AAACCAATAGCTGTAAATAAA	0.378000			D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0							SO:0001630	splice_region_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000389301.3	0	1	hg19	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489304	0.44249	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCA	88334776	1.000000	0.71417	0.726000	0.30738	0.508000	0.34012	4.115000	0.57865	2.586000	0.87340	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	1	0	1	14	119	0	20	0	2.228441e-01	0	8	0	20	2		0	0	0	0	0	2	1	9.997989e-01	14	118	0	20	2								-19.973070	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.790000	1.000000	1.000000	0.985023	0.990000	1	9.900000e-01	1
FANCA	2175	broad.mit.edu	37	16	89815125	89815125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89815125G>A	ENST00000389301.3	-	33	3320	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A			47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)			GGGCTGTTCTGCCTGGAAGCT	0.592000			D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0							SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000389301.3	1	1	hg19	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976831	0.34848	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84730	-1.89	4.32	-5.26	0.02772	.	0.733388	0.12716	N	0.445132	T	0.69441	0.3111	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17465	0.022;0.006;0.006	B;B;B	0.12837	0.008;0.005;0.005	T	0.56050	-0.8043	10	0.51188	T	0.08	0.0037	0.58	0.00710	0.2516:0.1259:0.2383:0.3842	.	74;1097;1097	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	V	1097;74	ENSP00000373952:A1097V	ENSP00000306281:A74V	A	-	2	0	FANCA	88342626	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-1.040000	0.03546	-0.628000	0.05582	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	1	0	1	46	175	0	30	1	8.717324e-01	8	8	0	30	2		0	0	0	0	0	2	1	1	46	173	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP7	7874	broad.mit.edu	37	16	8993578	8993578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8993578G>A	ENST00000344836.4	-	22	2544	c.2346C>T	c.(2344-2346)acC>acT	p.T782T	USP7_ENST00000381886.4_Silent_p.T766T|USP7_ENST00000535863.1_Silent_p.T683T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)			48					ACTCCTTTGCGGTGGGTAATT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000344836.4	1	1	hg19	CCDS32385.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	1	0	1	80	282	0	77	1	1	63	193	0	77	2		0	0	0	0	0	2	1	1	79	278	0	76	2								-3.422213	1	1	121412	2	35	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP7	7874	broad.mit.edu	37	16	8995939	8995939	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8995939G>A	ENST00000344836.4	-	18	2245	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	USP7_ENST00000381886.4_Splice_Site_p.H667Y|USP7_ENST00000535863.1_Splice_Site_p.H584Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)			48					GGGCACTTACGATCTTTATCA	0.483000																								0							SO:0001630	splice_region_variant			ENST00000344836.4	1	0	hg19	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001818	0.74932	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06768	3.26;3.27	5.42	5.42	0.78866	.	0.043956	0.85682	D	0.000000	T	0.05090	0.0136	N	0.22421	0.69	0.80722	D	1	P;P	0.46142	0.873;0.873	B;B	0.19148	0.024;0.024	T	0.50668	-0.8801	9	.	.	.	.	19.2247	0.93814	0.0:0.0:1.0:0.0	.	683;667	Q93009;B7Z815	UBP7_HUMAN;.	Y	683;691;584;584	ENSP00000343535:H683Y;ENSP00000443646:H584Y	.	H	-	1	0	USP7	8903440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.549000	0.85964	0.561000	0.74099	CAT		TCGA-IB-7651-01A-11D-2154-08	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	1	0	0	24	511	0	64	1	9.948600e-01	3	174	0	64	2		0	0	0	0	0	2	1	9.999996e-01	24	505	0	63	2								-2.882905	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.570000	0.360000	1.000000	0.530000	0.631970	0.570000	0	4.500000e-01	1
TCF25	22980	broad.mit.edu	37	16	89971399	89971399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89971399T>C	ENST00000263346.8	+	14	1579	c.1523T>C	c.(1522-1524)tTt>tCt	p.F508S	RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.F273S	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)			18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)			AGGTCACACTTTCTCTGGAAA	0.632000																								0							SO:0001583	missense			ENST00000263346.8	1	1	hg19	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	T	7.543	0.661108	0.14645	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.7	3.4	0.38934	.	0.299198	0.40554	N	0.001070	T	0.03827	0.0108	N	0.00057	-2.36	0.28664	N	0.905978	B;B	0.18013	0.021;0.025	B;B	0.13407	0.009;0.009	T	0.26677	-1.0096	9	0.17369	T	0.5	.	4.3785	0.11283	0.0:0.3371:0.0:0.6629	.	273;508	Q9H384;Q9BQ70	.;TCF25_HUMAN	S	508;273	.	ENSP00000263346:F508S	F	+	2	0	TCF25	88498900	0.249000	0.23941	1.000000	0.80357	0.774000	0.43823	0.447000	0.21710	1.000000	0.39049	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	1	0	1	16	65	0	13	1	1	137	236	0	13	2		0	0	0	0	0	2	1	9.999605e-01	16	64	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
USP7	7874	broad.mit.edu	37	16	8997161	8997161	+	Silent	SNP	C	C	T	rs146507622		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8997161C>T	ENST00000344836.4	-	16	2001	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	USP7_ENST00000381886.4_Silent_p.S585S|USP7_ENST00000535863.1_Silent_p.S502S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)			48					ACTCAGCAAGCGAGGAGTTCT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000344836.4	0	1	hg19	CCDS32385.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	0	0	0	8	304	0	59	1	9.879731e-01	6	295	0	59	2		0	0	0	0	0	2	1	9.881330e-01	8	294	0	59	2								-2.997158	1	1	121412	8	39	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.350000	0.150000	1.000000	0.300000	0.454403	0.350000	0	2.300000e-01	1
TCF25	22980	broad.mit.edu	37	16	89977554	89977554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977554C>A	ENST00000263346.8	+	18	1995	c.1939C>A	c.(1939-1941)Ctg>Atg	p.L647M	MC1R_ENST00000555427.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.A451D	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)			18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)			CAGGCTGATGCTGGCTGTGCG	0.667000																								0							SO:0001583	missense			ENST00000263346.8	1	1	hg19	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.401336|4.401336	0.83120|0.83120	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263347|ENST00000263346	.|.	.|.	.|.	5.21|5.21	0.701|0.701	0.18104|0.18104	.|.	.|0.472377	.|0.22676	.|N	.|0.057014	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.25369|0.25369	N|N	0.988718|0.988718	B|B	0.09022|0.24675	0.002|0.109	B|B	0.10450|0.15484	0.005|0.013	T|T	0.11155|0.11155	-1.0599|-1.0599	8|9	0.87932|0.48119	D|T	0|0.1	.|.	3.7855|3.7855	0.08698|0.08698	0.1298:0.3136:0.4523:0.1044|0.1298:0.3136:0.4523:0.1044	.|.	451|647	Q9H384|Q9BQ70	.|TCF25_HUMAN	D|M	451|647	.|.	ENSP00000263347:A451D|ENSP00000263346:L647M	A|L	+|+	2|1	0|2	TCF25|TCF25	88505055|88505055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.958000|2.958000	0.49145|0.49145	0.184000|0.184000	0.20083|0.20083	0.561000|0.561000	0.74099|0.74099	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	1	0	1	131	286	0	63	1	1	117	245	0	63	2		0	0	0	0	0	2	1	1	128	281	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF25	22980	broad.mit.edu	37	16	89977587	89977587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977587C>T	ENST00000263346.8	+	18	2028	c.1972C>T	c.(1972-1974)Ctc>Ttc	p.L658F	MC1R_ENST00000555427.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.P462L	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)			18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)			CAACTTCCACCTCAACGACCT	0.647000																								0							SO:0001583	missense			ENST00000263346.8	1	1	hg19	CCDS10987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.472323|3.472323	0.63737|0.63737	.|.	.|.	ENSG00000141002|ENSG00000141002	ENST00000263346|ENST00000263347	.|.	.|.	.|.	5.21|5.21	4.12|4.12	0.48240|0.48240	.|.	0.117444|.	0.64402|.	N|.	0.000008|.	T|T	0.16727|0.16727	0.0402|0.0402	N|N	0.01188|0.01188	-0.97|-0.97	0.32697|0.32697	N|N	0.513374|0.513374	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.08513|0.08513	-1.0718|-1.0718	9|8	0.02654|0.87932	T|D	1|0	.|.	7.251|7.251	0.26150|0.26150	0.0:0.1071:0.0:0.8929|0.0:0.1071:0.0:0.8929	.|.	658|462	Q9BQ70|Q9H384	TCF25_HUMAN|.	F|L	658|462	.|.	ENSP00000263346:L658F|ENSP00000263347:P462L	L|P	+|+	1|2	0|0	TCF25|TCF25	88505088|88505088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.827000|4.827000	0.62723|0.62723	0.843000|0.843000	0.35070|0.35070	0.561000|0.561000	0.74099|0.74099	CTC|CCT		TCGA-IB-7651-01A-11D-2154-08	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	1	0	1	68	439	0	77	1	1	82	301	0	77	2		0	0	0	0	0	2	1	1	68	427	0	77	2								-3.221911	1	0	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBB3	10381	broad.mit.edu	37	16	89999002	89999002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89999002G>A	ENST00000315491.7	+	2	204	c.81G>A	c.(79-81)gaG>gaA	p.E27E	TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000555576.1_Silent_p.E27E|TUBB3_ENST00000556922.1_Silent_p.E374E|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000554444.1_5'UTR	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III			17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		Ixabepilone(DB04845)	TCAGTGATGAGCATGGCATCG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000315491.7	1	1	hg19	CCDS10988.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	1	0	0	68	247	0	62	1	1	63	76	0	62	2		0	0	0	0	0	2	1	1	68	246	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBB3	10381	broad.mit.edu	37	16	90001610	90001610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90001610C>T	ENST00000315491.7	+	4	874	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	TUBB3_ENST00000304984.5_Missense_Mutation_p.R179C|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III			17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		Ixabepilone(DB04845)	CGCTGACCTGCGCAAGCTGGC	0.687000																								0							SO:0001583	missense			ENST00000315491.7	1	1	hg19	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317313	0.40996	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	D;D;T;D;D	0.84873	-1.91;-1.91;-1.0;-1.91;-1.91	4.67	4.67	0.58626	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000019	D	0.93926	0.8056	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95181	0.8299	9	.	.	.	.	17.5189	0.87782	0.0:1.0:0.0:0.0	.	251;251	Q13509;B2RBD5	TBB3_HUMAN;.	C	598;251;179;179;179;251	ENSP00000451560:R598C;ENSP00000302777:R179C;ENSP00000450538:R179C;ENSP00000451617:R179C;ENSP00000320295:R251C	.	R	+	1	0	RP11-566K11.2;TUBB3	88529111	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.385000	0.44371	2.316000	0.78162	0.407000	0.27541	CGC		TCGA-IB-7651-01A-11D-2154-08	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	1	0	1	122	348	0	74	1	1	75	80	0	74	2		0	0	0	0	0	2	1	1	120	344	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEF8	54849	broad.mit.edu	37	16	90027341	90027341	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90027341T>C	ENST00000268676.7	+	7	789	c.700T>C	c.(700-702)Tgt>Cgt	p.C234R	DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000569453.1_Missense_Mutation_p.C173R|DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000563594.1_Missense_Mutation_p.C173R|DEF8_ENST00000563848.1_3'UTR	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)			12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)			CACCCTAGGGTGTTATTACCG	0.582000																								0							SO:0001583	missense			ENST00000268676.7	1	1	hg19	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470659	0.43942	.	.	ENSG00000140995	ENST00000268676	D	0.99876	-7.41	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.138480	0.51477	D	0.000081	D	0.99876	0.9941	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.995;0.996	D	0.96365	0.9269	10	0.87932	D	0	-25.1315	12.6876	0.56956	0.0:0.0:0.0:1.0	.	173;163;234	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	R	234	ENSP00000268676:C234R	ENSP00000268676:C234R	C	+	1	0	DEF8	88554842	1.000000	0.71417	0.789000	0.31954	0.172000	0.22775	7.164000	0.77533	1.721000	0.51461	0.379000	0.24179	TGT		TCGA-IB-7651-01A-11D-2154-08	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	0	0	1	208	616	1	153	1	9.999967e-01	24	48	1	153	4		0	0	0	0	0	2	1	1	207	608	1	152	19								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAS8	2622	broad.mit.edu	37	16	90097793	90097793	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90097793C>A	ENST00000268699.4	+	3	299	c.177C>A	c.(175-177)atC>atA	p.I59I	GAS8_ENST00000536122.1_Silent_p.I34I|GAS8_ENST00000540721.1_3'UTR|C16orf3_ENST00000408886.2_5'Flank	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8			14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)			GGGACAAGATCCACACCTTCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000268699.4	1	1	hg19	CCDS10992.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2	1	0	0	13	204	0	33	1	7.530626e-01	7	37	0	33	2		0	0	0	0	0	2	1	9.995419e-01	13	201	0	33	2								-16.357800	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.770000	0.440000	1.000000	1.000000	0.781071	0.770000	0	5.900000e-01	1
GAS8	2622	broad.mit.edu	37	16	90102049	90102049	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90102049C>T	ENST00000268699.4	+	5	626	c.504C>T	c.(502-504)acC>acT	p.T168T	GAS8_ENST00000536122.1_Silent_p.T143T|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8			14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)			AGAAACACACCGAGGAGATCA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000268699.4	1	1	hg19	CCDS10992.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2	1	0	1	98	463	0	111	1	9.939076e-01	5	34	0	111	2		0	0	0	0	0	2	1	1	97	456	0	108	2								-2.721722	1	1	121412	4	39	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAS8	2622	broad.mit.edu	37	16	90109727	90109727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90109727G>A	ENST00000268699.4	+	11	1533	c.1411G>A	c.(1411-1413)Gcg>Acg	p.A471T	GAS8_ENST00000536122.1_Missense_Mutation_p.A446T|URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8			14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)			CCAGGGCCCCGCGGGACTGGT	0.637000																								0							SO:0001583	missense			ENST00000268699.4	1	1	hg19	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169634	0.57584	.	.	ENSG00000141013	ENST00000536122;ENST00000268699	T;T	0.51071	0.83;0.72	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.71296	2.17	0.80722	D	1	D	0.63880	0.993	P	0.45377	0.478	T	0.57923	-0.7727	9	.	.	.	-31.3668	18.2512	0.90004	0.0:0.0:1.0:0.0	.	471	O95995	GAS8_HUMAN	T	446;471	ENSP00000440977:A446T;ENSP00000268699:A471T	.	A	+	1	0	GAS8	88637228	1.000000	0.71417	0.815000	0.32552	0.046000	0.14306	8.551000	0.90678	2.688000	0.91661	0.557000	0.71058	GCG		TCGA-IB-7651-01A-11D-2154-08	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2	1	0	1	102	273	0	61	1	9.998164e-01	18	19	0	61	2		0	0	0	0	0	2	1	1	100	269	0	61	2								-20.000000	1	1	121360	1	22	1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM7	11105	broad.mit.edu	37	16	90128425	90128425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90128425G>A	ENST00000449207.2	-	7	805	c.786C>T	c.(784-786)aaC>aaT	p.N262N	PRDM7_ENST00000325921.6_Silent_p.N56N|PRDM7_ENST00000407825.1_Silent_p.N56N	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7			5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)			CAGATGCCTCGTTCCATACTC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000449207.2	0	1	hg19	CCDS45557.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1	0	0	0	17	489	0	84	0	0	0	1	0	84	2		0	0	0	0	0	2	1	9.999632e-01	16	485	0	82	2								-3.716544	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.430000	0.260000	0.660000	0.420000	0.449387	0.430000	0	3.400000e-01	5.500000e-01
C16orf72	29035	broad.mit.edu	37	16	9196949	9196949	+	Missense_Mutation	SNP	G	G	A	rs146827336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9196949G>A	ENST00000327827.7	+	3	813	c.416G>A	c.(415-417)cGt>cAt	p.R139H	RP11-473I1.5_ENST00000565648.1_RNA|RP11-473I1.9_ENST00000574285.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72			8					AGAACTATTCGTCGAGAAGAT	0.453000																								0							SO:0001583	missense			ENST00000327827.7	1	1	hg19	CCDS10538.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.379836	0.95945	0.002048	0.0	ENSG00000182831	ENST00000327827	T	0.54479	0.57	5.84	5.84	0.93424	.	0.052554	0.85682	D	0.000000	T	0.74711	0.3752	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75479	-0.3303	10	0.66056	D	0.02	-4.3905	20.1294	0.97995	0.0:0.0:1.0:0.0	.	139	Q14CZ0	CP072_HUMAN	H	139	ENSP00000331720:R139H	ENSP00000331720:R139H	R	+	2	0	C16orf72	9104450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.758000	0.94735	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	1	0	1	81	258	0	64	1	1	53	183	0	64	2		0	0	0	0	0	2	1	1	80	255	0	64	2								-3.334625	1	1	121412	2	43	1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMF1	64788	broad.mit.edu	37	16	921238	921238	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:921238G>T	ENST00000262301.11	-	7	1019	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y|LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1			18		Hepatocellular(780;0.00308)			GCCTGGCCCAGAGGGGAACAA	0.642000																								0							SO:0001583	missense			ENST00000262301.11	0	1	hg19	CCDS45373.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504376	0.44558	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.25414	1.8;1.8;1.8	5.48	4.51	0.55191	.	0.262403	0.38605	N	0.001621	T	0.30355	0.0762	M	0.80616	2.505	0.80722	D	1	P	0.38223	0.623	B	0.30251	0.113	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.2062	14.3017	0.66357	0.0:0.0:0.8501:0.1499	.	334	Q96S06	LMF1_HUMAN	Y	334;334;117;88;97	ENSP00000262301:S334Y;ENSP00000382737:S334Y;ENSP00000437418:S97Y	ENSP00000262301:S334Y	S	-	2	0	LMF1	861239	1.000000	0.71417	0.022000	0.16811	0.003000	0.03518	4.439000	0.59968	1.298000	0.44778	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	1	0	0	8	112	0	25	1	8.593727e-01	2	50	0	25	2		0	0	0	0	0	2	1	9.874294e-01	8	105	0	25	2								-12.426050	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.890000	0.410000	1.000000	1.000000	0.834153	0.890000	1	6.100000e-01	1
GRIN2A	2903	broad.mit.edu	37	16	9857412	9857412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857412C>T	ENST00000396573.2	-	14	4298	c.3989G>A	c.(3988-3990)aGt>aAt	p.S1330N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A			198				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAGGGGACACTAAACAGGCT	0.547000																								0							SO:0001583	missense			ENST00000396573.2	1	1	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.754	0.323454	0.10900	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.10763	2.84;2.84;2.84	5.47	5.47	0.80525	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.264128	0.48767	D	0.000168	T	0.07098	0.0180	N	0.13043	0.29	0.51233	D	0.999914	B	0.02656	0.0	B	0.10450	0.005	T	0.38650	-0.9651	9	.	.	.	.	13.692	0.62550	0.1541:0.8459:0.0:0.0	.	1330	Q12879	NMDE1_HUMAN	N	1330	ENSP00000379818:S1330N;ENSP00000332549:S1330N;ENSP00000379820:S1330N	.	S	-	2	0	GRIN2A	9764913	0.865000	0.29922	0.070000	0.20053	0.918000	0.54935	1.631000	0.37092	2.741000	0.93983	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1	116	448	0	90	0	4.301980e-02	0	2	0	90	2		0	0	0	0	0	2	1	1	115	442	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2A	2903	broad.mit.edu	37	16	9857650	9857650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857650C>T	ENST00000396573.2	-	14	4060	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A			198				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCATCTGGTCTTCATCGATG	0.542000																								0							SO:0001583	missense			ENST00000396573.2	1	1	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302940	0.81136	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.50813	0.73;1.76;1.83;0.73;0.73	5.11	5.11	0.69529	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.995	T	0.75102	-0.3436	9	.	.	.	.	17.5377	0.87837	0.0:1.0:0.0:0.0	.	1094;1251;1251	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1251;1251;1094;1251;1251	ENSP00000379818:D1251N;ENSP00000385872:D1251N;ENSP00000441572:D1094N;ENSP00000332549:D1251N;ENSP00000379820:D1251N	.	D	-	1	0	GRIN2A	9765151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.365000	0.80145	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1	100	400	0	75	1	4.260061e-01	4	3	0	75	2		0	0	0	0	0	2	1	1	99	392	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2A	2903	broad.mit.edu	37	16	9858386	9858386	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9858386T>G	ENST00000396573.2	-	14	3324	c.3015A>C	c.(3013-3015)aaA>aaC	p.K1005N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A			198				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGAGTTCGCTTTGGATTCTG	0.507000																								0							SO:0001583	missense			ENST00000396573.2	1	1	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	6.706	0.498927	0.12762	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12465	2.69;2.68;2.68;2.69;2.69	5.33	-2.16	0.07080	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.138656	0.64402	D	0.000005	T	0.13841	0.0335	L	0.51422	1.61	0.29012	N	0.886792	B;P;P	0.39576	0.358;0.679;0.611	B;B;B	0.43413	0.106;0.248;0.419	T	0.11494	-1.0585	9	.	.	.	.	10.8181	0.46589	0.0:0.4309:0.0:0.569	.	848;1005;1005	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	1005;1005;848;1005;1005	ENSP00000379818:K1005N;ENSP00000385872:K1005N;ENSP00000441572:K848N;ENSP00000332549:K1005N;ENSP00000379820:K1005N	.	K	-	3	2	GRIN2A	9765887	0.876000	0.30132	0.497000	0.27552	0.541000	0.35023	0.365000	0.20348	-0.475000	0.06852	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1	112	399	0	69	1	4.774343e-01	3	4	0	69	2		0	0	0	0	0	2	1	1	112	396	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2A	2903	broad.mit.edu	37	16	9862923	9862923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9862923G>T	ENST00000396573.2	-	13	2689	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A			198				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGAGCCACAGGGTCTCCAGC	0.557000																								0							SO:0001583	missense			ENST00000396573.2	1	1	hg19	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544199	0.65198	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.068047	0.64402	D	0.000012	T	0.30039	0.0752	N	0.25647	0.755	0.37532	D	0.917965	P;P;P	0.51653	0.835;0.947;0.776	P;P;P	0.59825	0.676;0.864;0.567	T	0.08848	-1.0702	9	.	.	.	.	10.1679	0.42890	0.0923:0.0:0.9077:0.0	.	637;794;794	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	794;794;637;794;794	ENSP00000379818:L794M;ENSP00000385872:L794M;ENSP00000441572:L637M;ENSP00000332549:L794M;ENSP00000379820:L794M	.	L	-	1	2	GRIN2A	9770424	1.000000	0.71417	0.920000	0.36463	0.966000	0.64601	5.549000	0.67261	2.163000	0.67991	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	1	0	1	59	302	0	87	0	2.754779e-02	0	2	0	87	2		0	0	0	0	0	2	1	1	58	301	0	87	2								-2.638682	1	1	0	0		1	1	2	3	2.056757	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH13	8735	broad.mit.edu	37	17	10212991	10212991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10212991G>A	ENST00000418404.3	-	33	4976	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.L1605L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle			108					TCAGCATCCAGCACGCTCTGC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000418404.3	1	1	hg19	CCDS45613.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	1	0	1	15	58	0	17	0	0	0	1	0	17	2		0	0	0	0	0	2	1	9.999316e-01	15	58	0	17	2								-12.479420	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999862	0.990000	1	9.900000e-01	1
MYH13	8735	broad.mit.edu	37	17	10227477	10227477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10227477C>A	ENST00000418404.3	-	22	2959	c.2796G>T	c.(2794-2796)gaG>gaT	p.E932D	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E932D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle			108					TCTCCTCTTCCTCTTCCAATC	0.458000																								0							SO:0001583	missense			ENST00000418404.3	1	1	hg19	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.708326	0.00712	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.93659	-3.26	4.37	0.881	0.19166	.	.	.	.	.	T	0.74959	0.3785	N	0.02181	-0.65	0.31291	N	0.689455	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.68217	-0.5467	9	0.02654	T	1	.	3.4732	0.07575	0.2993:0.305:0.0:0.3957	.	558;932	B4DFX9;Q9UKX3	.;MYH13_HUMAN	D	932;558	ENSP00000252172:E932D	ENSP00000252172:E932D	E	-	3	2	MYH13	10168202	0.999000	0.42202	0.992000	0.48379	0.162000	0.22319	0.779000	0.26746	0.107000	0.17824	-0.302000	0.09304	GAG		TCGA-IB-7651-01A-11D-2154-08	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	1	0	1	64	297	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	64	293	0	69	2								-3.087995	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH13	8735	broad.mit.edu	37	17	10265484	10265484	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10265484C>T	ENST00000418404.3	-	4	619	c.456G>A	c.(454-456)ccG>ccA	p.P152P	MYH13_ENST00000252172.4_Silent_p.P152P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle			108					AGATGTGGGGCGGGGCCTCCT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000418404.3	1	1	hg19	CCDS45613.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	1	0	0	58	829	0	202	0	0	0	1	0	202	2		0	0	0	0	0	2	1	1	55	745	0	244	2								-10.021770	1	1	121412	1	32	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.790000	0.600000	1.000000	0.780000	0.806930	0.790000	0	6.800000e-01	9.400000e-01
MYH8	4626	broad.mit.edu	37	17	10293915	10293915	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10293915T>A	ENST00000403437.2	-	40	5764	c.5670A>T	c.(5668-5670)gaA>gaT	p.E1890D	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal			134					CATTGGATTGTTCCTCCTAAG	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling															0							SO:0001583	missense	Familial Cancer Database	Carney Complex Variant	ENST00000403437.2	1	1	hg19	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108485	0.77096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81996	-1.56	5.15	0.555	0.17247	Myosin tail (1);	0.000000	0.42172	U	0.000741	D	0.90930	0.7149	M	0.92833	3.35	0.40283	D	0.978417	D	0.54207	0.965	D	0.65573	0.936	D	0.89785	0.3964	10	0.72032	D	0.01	.	9.6578	0.39936	0.0:0.4681:0.0:0.5319	.	1890	P13535	MYH8_HUMAN	D	1890	ENSP00000384330:E1890D	ENSP00000252173:E1890D	E	-	3	2	MYH8	10234640	0.026000	0.19158	0.998000	0.56505	0.921000	0.55340	-0.867000	0.04241	-0.094000	0.12374	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1	84	436	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	84	429	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH8	4626	broad.mit.edu	37	17	10299984	10299984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10299984C>T	ENST00000403437.2	-	32	4508	c.4414G>A	c.(4414-4416)Gcc>Acc	p.A1472T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal			134					TTCTGGGAGGCCTCAAGTTCA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling															0							SO:0001583	missense	Familial Cancer Database	Carney Complex Variant	ENST00000403437.2	1	1	hg19	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998557	0.54147	0.001135	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82619	-1.63	5.26	0.808	0.18719	Myosin tail (1);	0.362158	0.19522	N	0.112257	T	0.72630	0.3484	L	0.36672	1.1	0.32477	N	0.541975	B	0.22003	0.063	B	0.24848	0.056	T	0.69764	-0.5057	10	0.59425	D	0.04	.	7.0599	0.25119	0.2492:0.6169:0.0:0.134	.	1472	P13535	MYH8_HUMAN	T	1472	ENSP00000384330:A1472T	ENSP00000252173:A1472T	A	-	1	0	MYH8	10240709	0.231000	0.23751	0.997000	0.53966	0.552000	0.35366	0.814000	0.27239	0.324000	0.23333	-0.133000	0.14855	GCC		TCGA-IB-7651-01A-11D-2154-08	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1	53	288	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	52	287	0	72	2								-20.000000	1	1	121412	9	42	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH8	4626	broad.mit.edu	37	17	10304205	10304205	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10304205T>A	ENST00000403437.2	-	26	3420	c.3326A>T	c.(3325-3327)aAg>aTg	p.K1109M	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal			134					TTTGATCTTCTTCTGTAGTTG	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling															0							SO:0001583	missense	Familial Cancer Database	Carney Complex Variant	ENST00000403437.2	1	1	hg19	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631872	0.67015	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81659	-1.52	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.43747	U	0.000537	D	0.92593	0.7647	H	0.95712	3.71	0.58432	D	0.999996	D	0.89917	1.0	D	0.76575	0.988	D	0.94676	0.7861	10	0.87932	D	0	.	15.5555	0.76189	0.0:0.0:0.0:1.0	.	1109	P13535	MYH8_HUMAN	M	1109	ENSP00000384330:K1109M	ENSP00000252173:K1109M	K	-	2	0	MYH8	10244930	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.995000	0.70631	2.255000	0.74692	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	0	13	204	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	9.995275e-01	13	200	0	44	2								-5.403379	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.750000	0.410000	1.000000	1.000000	0.760972	0.750000	0	5.600000e-01	1
MYH8	4626	broad.mit.edu	37	17	10318882	10318882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10318882G>A	ENST00000403437.2	-	7	649	c.555C>T	c.(553-555)gcC>gcT	p.A185A	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal			134					CAGTCTTTCCGGCACCAGATT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling															0							SO:0001819	synonymous_variant	Familial Cancer Database	Carney Complex Variant	ENST00000403437.2	1	1	hg19	CCDS11153.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1	97	381	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	95	378	0	96	2								-3.122827	1	1	121412	1	29	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH8	4626	broad.mit.edu	37	17	10323446	10323446	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10323446C>T	ENST00000403437.2	-	3	193	c.99G>A	c.(97-99)ccG>ccA	p.P33P	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal			134					TAGCATCAAACGGCTTGTTTT	0.483000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling															0							SO:0001819	synonymous_variant	Familial Cancer Database	Carney Complex Variant	ENST00000403437.2	1	1	hg19	CCDS11153.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	1	0	1	188	713	0	217		0	0	0	0	217	2		0	0	0	0	0	2	1	1	182	702	0	216	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH4	4622	broad.mit.edu	37	17	10346788	10346788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10346788C>A	ENST00000255381.2	-	40	5834	c.5724G>T	c.(5722-5724)gaG>gaT	p.E1908D	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle			149					CCTTGGCCTCCTCCAGCTCGT	0.468000																								0							SO:0001583	missense			ENST00000255381.2	1	1	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	3.834	-0.035179	0.07543	.	.	ENSG00000141048	ENST00000255381	D	0.83419	-1.72	5.19	1.03	0.20045	Myosin tail (1);	0.000000	0.37577	U	0.002023	T	0.74943	0.3783	L	0.43646	1.37	0.38826	D	0.955749	B	0.24317	0.101	B	0.34385	0.181	T	0.62267	-0.6890	10	0.15499	T	0.54	.	8.9865	0.35997	0.0:0.5736:0.0:0.4264	.	1908	Q9Y623	MYH4_HUMAN	D	1908	ENSP00000255381:E1908D	ENSP00000255381:E1908D	E	-	3	2	MYH4	10287513	0.136000	0.22515	1.000000	0.80357	0.750000	0.42670	-0.450000	0.06803	0.447000	0.26695	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	1	0	1	114	514	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	111	509	0	110	2								-3.077930	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH4	4622	broad.mit.edu	37	17	10348418	10348418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10348418C>T	ENST00000255381.2	-	37	5451	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	p.A1781T(2)		149					TCCAGGTGGGCGCTGGTGTCC	0.512000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000255381.2	1	1	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670513	0.67814	.	.	ENSG00000141048	ENST00000255381	T	0.78816	-1.21	5.5	4.53	0.55603	Myosin tail (1);	0.201038	0.23851	N	0.043944	T	0.78984	0.4370	M	0.83118	2.625	0.51012	D	0.999903	P	0.36974	0.576	B	0.34931	0.192	T	0.81335	-0.0979	10	0.56958	D	0.05	.	14.6141	0.68537	0.0:0.9295:0.0:0.0705	.	1781	Q9Y623	MYH4_HUMAN	T	1781	ENSP00000255381:A1781T	ENSP00000255381:A1781T	A	-	1	0	MYH4	10289143	0.985000	0.35326	1.000000	0.80357	0.986000	0.74619	2.462000	0.45049	1.456000	0.47831	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	1	0	1	88	823	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1	87	798	0	160	2								-19.999830	1	1	121410	3	38	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.930000	1.000000	1.000000	0.996163	0.990000	1	9.900000e-01	1
MYH4	4622	broad.mit.edu	37	17	10360803	10360803	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10360803G>A	ENST00000255381.2	-	16	1941	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle			149					TTCTGGTACAGCCCCACCACA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000255381.2	1	1	hg19	CCDS11154.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	1	0	1	100	371	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	99	368	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH1	4619	broad.mit.edu	37	17	10397923	10397923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10397923C>T	ENST00000226207.5	-	38	5628	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult			176					CTCATGTTTGCGTAGACCCTT	0.393000																								0							SO:0001583	missense			ENST00000226207.5	1	1	hg19	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955331	0.73902	.	.	ENSG00000109061	ENST00000226207	D	0.83163	-1.69	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.44097	U	0.000487	D	0.88548	0.6466	M	0.87827	2.91	0.80722	D	1	D	0.56521	0.976	P	0.48304	0.573	D	0.90525	0.4491	10	0.56958	D	0.05	.	18.8437	0.92196	0.0:1.0:0.0:0.0	.	1845	P12882	MYH1_HUMAN	H	1845	ENSP00000226207:R1845H	ENSP00000226207:R1845H	R	-	2	0	MYH1	10338648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.044000	0.71012	2.523000	0.85059	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	1	0	1	97	526	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	97	515	0	119	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH1	4619	broad.mit.edu	37	17	10399596	10399596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10399596C>T	ENST00000226207.5	-	34	5021	c.4927G>A	c.(4927-4929)Gcc>Acc	p.A1643T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult			176					TTCCTCAGGGCCTCAGCAGCC	0.502000																								0							SO:0001583	missense			ENST00000226207.5	1	1	hg19	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076045	0.36662	.	.	ENSG00000109061	ENST00000226207	T	0.79845	-1.31	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.42964	U	0.000639	T	0.76011	0.3928	M	0.62154	1.92	0.42200	D	0.991768	B	0.06786	0.001	B	0.15052	0.012	T	0.71163	-0.4673	10	0.40728	T	0.16	.	9.0459	0.36347	0.1477:0.7783:0.0:0.074	.	1643	P12882	MYH1_HUMAN	T	1643	ENSP00000226207:A1643T	ENSP00000226207:A1643T	A	-	1	0	MYH1	10340321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.784000	0.38674	2.758000	0.94735	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	1	0	1	125	586	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	121	572	0	154	2								-20.000000	1	0	121412	1	32	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH1	4619	broad.mit.edu	37	17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	p.R445L(1)		176					CTGGTTGATGCGGGTGACCAT	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000226207.5	1	1	hg19	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270913	0.95429	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88741	-2.42	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000487	D	0.95762	0.8621	M	0.90425	3.115	0.58432	D	0.999998	D	0.69078	0.997	D	0.72625	0.978	D	0.95814	0.8844	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	445	P12882	MYH1_HUMAN	H	445	ENSP00000226207:R445H	ENSP00000226207:R445H	R	-	2	0	MYH1	10355963	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	2.861000	0.98227	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	1	0	1	244	973	0	245		0	0	0	0	245	2		0	0	0	0	0	2	1	1	240	946	0	243	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH2	4620	broad.mit.edu	37	17	10438497	10438497	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10438497C>A	ENST00000245503.5	-	19	2457	c.2073G>T	c.(2071-2073)gaG>gaT	p.E691D	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult			176					CAAGCTCATGCTCCATGGCAC	0.453000																								0							SO:0001583	missense			ENST00000245503.5	1	1	hg19	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	3.634	-0.074998	0.07184	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85013	-1.93;-1.93	5.1	2.96	0.34315	Myosin head, motor domain (2);	0.000000	0.39475	U	0.001342	T	0.55737	0.1939	N	0.01152	-0.98	0.41702	D	0.989408	B	0.02656	0.0	B	0.06405	0.002	T	0.57394	-0.7819	10	0.02654	T	1	.	8.1088	0.30903	0.0:0.6937:0.0:0.3063	.	691	Q9UKX2	MYH2_HUMAN	D	691	ENSP00000245503:E691D;ENSP00000380367:E691D	ENSP00000245503:E691D	E	-	3	2	MYH2	10379222	0.222000	0.23652	1.000000	0.80357	0.845000	0.48019	-0.368000	0.07543	1.363000	0.46019	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	1	0	1	60	243	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	60	236	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH2	4620	broad.mit.edu	37	17	10446206	10446206	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10446206T>G	ENST00000245503.5	-	10	1274	c.890A>C	c.(889-891)aAa>aCa	p.K297T	MYH2_ENST00000532183.2_Missense_Mutation_p.K297T|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult			176					AAGTTCTGGTTTCTTATTCGA	0.343000																								0							SO:0001583	missense			ENST00000245503.5	1	1	hg19	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457002	0.63401	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.71341	-0.56;-0.56;-0.56	4.89	4.89	0.63831	Myosin head, motor domain (2);	0.000000	0.41097	U	0.000958	T	0.82051	0.4953	M	0.67517	2.055	0.58432	D	0.999994	D;P	0.65815	0.995;0.577	D;P	0.85130	0.997;0.833	D	0.84078	0.0383	10	0.72032	D	0.01	.	13.8513	0.63499	0.0:0.0:0.0:1.0	.	297;297	Q567P6;Q9UKX2	.;MYH2_HUMAN	T	297	ENSP00000433944:K297T;ENSP00000245503:K297T;ENSP00000380367:K297T	ENSP00000245503:K297T	K	-	2	0	MYH2	10386931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.063000	0.61619	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	1	0	1	29	120	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	29	118	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MYH3	4621	broad.mit.edu	37	17	10532983	10532983	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10532983T>C	ENST00000583535.1	-	40	5814	c.5727A>G	c.(5725-5727)gaA>gaG	p.E1909E	MYH3_ENST00000226209.7_Silent_p.E1909E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic			83					TATCCGCACGTTCCTCGGCCT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000583535.1	1	1	hg19	CCDS11157.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	1	0	1	45	361	0	72	0	3.583451e-02	1	2	0	72	2		0	0	0	0	0	2	1	1	42	356	0	68	2								-16.779880	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.980000	1.000000	1.000000	0.998433	0.990000	1	9.900000e-01	1
MYH3	4621	broad.mit.edu	37	17	10545853	10545853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10545853C>A	ENST00000583535.1	-	16	1856	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I	MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic			83					ACCTGAGACACTGTAGTCCAC	0.552000																								0							SO:0001583	missense			ENST00000583535.1	1	1	hg19	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668877	0.47677	.	.	ENSG00000109063	ENST00000226209	T	0.73789	-0.78	4.71	3.74	0.42951	Myosin head, motor domain (2);	.	.	.	.	T	0.71728	0.3374	M	0.79011	2.435	0.40627	D	0.981821	B	0.30870	0.298	B	0.32583	0.148	T	0.73754	-0.3883	9	0.87932	D	0	.	5.7549	0.18168	0.0:0.6681:0.0:0.3319	.	590	P11055	MYH3_HUMAN	I	590	ENSP00000226209:S590I	ENSP00000226209:S590I	S	-	2	0	MYH3	10486578	0.998000	0.40836	0.994000	0.49952	0.946000	0.59487	3.265000	0.51561	1.340000	0.45581	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	1	0	1	130	594	0	145	0	3.249338e-02	0	2	0	145	2		0	0	0	0	0	2	1	1	127	581	0	142	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH3	4621	broad.mit.edu	37	17	10547728	10547728	+	Silent	SNP	C	C	T	rs141874357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10547728C>T	ENST00000583535.1	-	14	1437	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MYH3_ENST00000226209.7_Silent_p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic			83					TTGGAAGCTTCGTATCCAGTT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000583535.1	1	1	hg19	CCDS11157.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	0	0	0	19	513	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	9.999899e-01	19	507	0	80	2								-2.936122	1	1	121412	14	44	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.440000	0.260000	1.000000	0.420000	0.499861	0.440000	0	3.400000e-01	6.000000e-01
SCO1	6341	broad.mit.edu	37	17	10595270	10595270	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10595270T>C	ENST00000255390.5	-	4	634	c.574A>G	c.(574-576)Act>Gct	p.T192A	SCO1_ENST00000577427.1_Missense_Mutation_p.T161A|SCO1_ENST00000582053.1_5'Flank	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein			10					TCTGGCAGAGTTGTAATGCTA	0.393000													Melanoma(128;591 1731 19711 31891 44645)											0							SO:0001583	missense			ENST00000255390.5	1	1	hg19	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	T	4.276	0.050417	0.08243	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.83914	-1.78	5.5	-1.17	0.09648	Thioredoxin-like fold (2);	0.482809	0.24419	N	0.038699	T	0.66396	0.2785	N	0.11255	0.115	0.32910	D	0.514421	B;B	0.22800	0.075;0.004	B;B	0.32393	0.145;0.031	T	0.56685	-0.7938	10	0.08179	T	0.78	-10.4468	15.0142	0.71570	0.7322:0.0:0.0:0.2677	.	161;192	A8MY34;O75880	.;SCO1_HUMAN	A	192;161	ENSP00000255390:T192A	ENSP00000255390:T192A	T	-	1	0	SCO1	10535995	0.977000	0.34250	0.463000	0.27130	0.777000	0.43975	1.403000	0.34612	-0.456000	0.07043	-0.438000	0.05819	ACT		TCGA-IB-7651-01A-11D-2154-08	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	1	0	1	52	250	0	44	1	1	62	99	0	44	2		0	0	0	0	0	2	1	1	51	247	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11532855	11532855	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532855G>T	ENST00000262442.4	+	7	1540	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			GAGATGTACAGGCTTCTCTCA	0.547000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656503	0.47467	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56941	0.43;0.43	5.61	1.84	0.25277	Dynein heavy chain, domain-1 (1);	0.323004	0.31020	N	0.008406	T	0.53578	0.1805	L	0.50333	1.59	0.80722	D	1	B	0.33413	0.411	P	0.47102	0.537	T	0.52852	-0.8520	10	0.54805	T	0.06	.	7.0825	0.25239	0.5122:0.0:0.4878:0.0	.	491	Q9NYC9	DYH9_HUMAN	M	491	ENSP00000262442:R491M;ENSP00000414874:R491M	ENSP00000262442:R491M	R	+	2	0	DNAH9	11473580	0.956000	0.32656	0.989000	0.46669	0.184000	0.23303	0.847000	0.27696	0.606000	0.29965	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	48	365	0	87	0	1.419138e-02	0	2	0	87	2		0	0	0	0	0	2	1	1	47	357	0	87	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999443	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11535968	11535968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11535968C>T	ENST00000262442.4	+	8	1651	c.1583C>T	c.(1582-1584)aCt>aTt	p.T528I	DNAH9_ENST00000454412.2_Missense_Mutation_p.T528I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			AGATTGGGGACTATCTTTATT	0.433000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058066	0.36277	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.57273	0.41;0.41	5.18	4.0	0.46444	Dynein heavy chain, domain-1 (1);	2.959590	0.01254	N	0.008973	T	0.64659	0.2618	M	0.63843	1.955	0.31554	N	0.658352	P	0.49090	0.919	P	0.49597	0.616	T	0.57318	-0.7832	10	0.72032	D	0.01	.	11.5811	0.50891	0.0:0.899:0.0:0.101	.	528	Q9NYC9	DYH9_HUMAN	I	528	ENSP00000262442:T528I;ENSP00000414874:T528I	ENSP00000262442:T528I	T	+	2	0	DNAH9	11476693	0.612000	0.27000	0.775000	0.31657	0.083000	0.17756	3.276000	0.51646	2.427000	0.82271	0.650000	0.86243	ACT		TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	81	454	0	101	0	0	0	1	0	101	2		0	0	0	0	0	2	1	1	80	444	0	101	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11556085	11556085	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11556085C>T	ENST00000262442.4	+	14	2429	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	DNAH9_ENST00000454412.2_Silent_p.C787C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	p.C787C(1)		290		Breast(5;0.0122)|all_epithelial(5;0.131)			CAGGCATTTGCGATTATGTCA	0.358000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000262442.4	1	1	hg19	CCDS11160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	65	344	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	64	340	0	78	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11645572	11645572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11645572C>T	ENST00000262442.4	+	30	6121	c.6053C>T	c.(6052-6054)tCa>tTa	p.S2018L	AC005701.1_ENST00000584990.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.S2018L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			GAAGCCCAGTCATTAGCCAGA	0.458000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	1.172	-0.640598	0.03557	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.4;1.4	5.61	-1.09	0.09904	.	1.252010	0.05540	N	0.565486	T	0.19604	0.0471	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	10	0.02654	T	1	.	11.5605	0.50774	0.0:0.5102:0.0:0.4898	.	2018	Q9NYC9	DYH9_HUMAN	L	2018;2018;600	ENSP00000262442:S2018L;ENSP00000414874:S2018L	ENSP00000262442:S2018L	S	+	2	0	DNAH9	11586297	0.000000	0.05858	0.001000	0.08648	0.857000	0.48899	0.755000	0.26405	-0.064000	0.13043	-0.322000	0.08575	TCA		TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	87	391	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	83	387	0	93	2								-3.224568	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11650903	11650903	+	Missense_Mutation	SNP	C	C	T	rs138652506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11650903C>T	ENST00000262442.4	+	32	6498	c.6430C>T	c.(6430-6432)Cgg>Tgg	p.R2144W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			CCTGGCTGTGCGGCACTCTGT	0.592000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.38	3.611421	0.66558	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44881	0.91;0.91	5.03	0.113	0.14631	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.70254	0.3203	H	0.99740	4.74	0.80722	D	1	D	0.55605	0.972	P	0.50537	0.643	D	0.83810	0.0241	10	0.72032	D	0.01	.	13.858	0.63542	0.5383:0.4617:0.0:0.0	.	2144	Q9NYC9	DYH9_HUMAN	W	2144;2144;726	ENSP00000262442:R2144W;ENSP00000414874:R2144W	ENSP00000262442:R2144W	R	+	1	2	DNAH9	11591628	0.013000	0.17824	0.299000	0.25016	0.864000	0.49448	0.130000	0.15850	0.093000	0.17368	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	41	186	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	41	181	0	45	2								-3.092427	1	1	121412	25	44	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11684429	11684429	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11684429G>T	ENST00000262442.4	+	39	7724	c.7656G>T	c.(7654-7656)gtG>gtT	p.V2552V	DNAH9_ENST00000454412.2_Silent_p.V2552V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			TGCCTGAGGTGGATGCCTACG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000262442.4	1	1	hg19	CCDS11160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	30	178	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	30	172	0	57	2								-3.328520	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999889	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11687764	11687764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11687764G>A	ENST00000262442.4	+	41	8037	c.7969G>A	c.(7969-7971)Gcc>Acc	p.A2657T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2657T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			TCTGGCCCTCGCCTTCCACCA	0.502000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	9.311	1.055534	0.19907	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.41758	0.99;0.99	5.56	0.599	0.17519	.	0.197317	0.45126	N	0.000395	T	0.24736	0.0600	L	0.38838	1.175	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.04961	-1.0915	10	0.19590	T	0.45	.	3.973	0.09462	0.4292:0.0:0.4033:0.1676	.	2657	Q9NYC9	DYH9_HUMAN	T	2657;2657;1239	ENSP00000262442:A2657T;ENSP00000414874:A2657T	ENSP00000262442:A2657T	A	+	1	0	DNAH9	11628489	0.041000	0.20044	0.972000	0.41901	0.532000	0.34746	1.208000	0.32345	0.313000	0.23062	-1.552000	0.00895	GCC		TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	140	727	1	184		0	0	0	1	184	2		0	0	0	0	0	2	1	1	135	702	2	182	22								-20.000000	1	1	121412	1	34	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11696901	11696901	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11696901T>C	ENST00000262442.4	+	42	8211	c.8143T>C	c.(8143-8145)Tat>Cat	p.Y2715H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2715H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			AAATCGAGTTTATCGGGATAA	0.398000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611899	0.87258	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.40756	1.02;1.02	5.76	5.76	0.90799	.	0.140928	0.49916	D	0.000140	T	0.71281	0.3321	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78283	-0.2264	10	0.87932	D	0	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	2715	Q9NYC9	DYH9_HUMAN	H	2715;2715;1297	ENSP00000262442:Y2715H;ENSP00000414874:Y2715H	ENSP00000262442:Y2715H	Y	+	1	0	DNAH9	11637626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.841000	0.86834	2.191000	0.70037	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	86	382	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	85	375	1	74	20								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11711199	11711199	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11711199C>A	ENST00000262442.4	+	44	8639	c.8571C>A	c.(8569-8571)atC>atA	p.I2857I	DNAH9_ENST00000454412.2_Silent_p.I2857I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			GCTACCAGATCCAGGACTTCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000262442.4	1	1	hg19	CCDS11160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	0	52	186	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	49	184	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11757669	11757669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11757669G>A	ENST00000262442.4	+	50	9925	c.9857G>A	c.(9856-9858)cGc>cAc	p.R3286H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3286H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			GAACCCAAGCGCCAGGCACTG	0.562000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813593	0.70912	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80994	-1.44;-1.44	5.44	5.44	0.79542	Dynein heavy chain, coiled coil stalk (1);	0.239323	0.41097	D	0.000942	D	0.94248	0.8153	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95977	0.8974	10	0.87932	D	0	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	3286	Q9NYC9	DYH9_HUMAN	H	3286;3286;1868	ENSP00000262442:R3286H;ENSP00000414874:R3286H	ENSP00000262442:R3286H	R	+	2	0	DNAH9	11698394	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	7.384000	0.79751	2.828000	0.97474	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	116	479	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	113	468	0	100	2								-20.000000	1	1	121412	8	40	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11845625	11845625	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11845625G>A	ENST00000262442.4	+	67	12734	c.12666G>A	c.(12664-12666)aaG>aaA	p.K4222K	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Silent_p.K534K|DNAH9_ENST00000454412.2_Silent_p.K4146K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			GGCAGGTCAAGGCACTTCTGG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000262442.4	1	1	hg19	CCDS11160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	0	147	762	0	166		0	0	0	0	166	2		0	0	0	0	0	2	1	1	143	742	0	165	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH9	1770	broad.mit.edu	37	17	11865483	11865483	+	Silent	SNP	G	G	A	rs138480985		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11865483G>A	ENST00000262442.4	+	68	13211	c.13143G>A	c.(13141-13143)acG>acA	p.T4381T	DNAH9_ENST00000396001.2_3'UTR|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000608377.1_Silent_p.T693T|DNAH9_ENST00000454412.2_Silent_p.T4305T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			GTGACATGACGAAGAAGAACA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000262442.4	1	1	hg19	CCDS11160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	0	32	358	0	101	0	0	0	1	0	101	2		0	0	0	0	0	2	1	1	31	353	0	100	2								-3.318794	1	1	121152	2	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.690000	1.000000	1.000000	0.936349	0.990000	1	8.300000e-01	1
ZNF18	7566	broad.mit.edu	37	17	11896000	11896000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11896000G>T	ENST00000322748.3	-	4	751	c.147C>A	c.(145-147)taC>taA	p.Y49*	ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Y49*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18			14					ACATCACCTGGTAACGGAACT	0.547000																								0							SO:0001587	stop_gained			ENST00000322748.3	0	1	hg19	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544561	0.96488	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.29	3.31	0.37934	.	0.000000	0.41294	D	0.000901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1966	7.8206	0.29286	0.1889:0.0:0.8111:0.0	.	.	.	.	X	49	.	ENSP00000315664:Y49X	Y	-	3	2	ZNF18	11836725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.417000	0.44653	0.628000	0.30357	0.655000	0.94253	TAC		TCGA-IB-7651-01A-11D-2154-08	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	1	0	1	69	336	0	86	1	9.782649e-01	4	28	0	86	2		0	0	0	0	0	2	1	1	69	332	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP2K4	6416	broad.mit.edu	37	17	11984701	11984701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11984701T>G	ENST00000353533.5	+	3	310	c.247T>G	c.(247-249)Tca>Gca	p.S83A	MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.S94A	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	p.0?(10)|p.?(1)		100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)			CAGCATTGAGTCATCAGGAAA	0.378000			D, Mis, N		pancreatic, breast, colorectal										Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)						SO:0001583	missense			ENST00000353533.5	1	1	hg19	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573666	0.45902	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.72505	-0.55;-0.66	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.64997	1.995	0.80722	D	1	B;B	0.26975	0.165;0.103	B;B	0.30855	0.121;0.023	T	0.70666	-0.4809	10	0.59425	D	0.04	.	14.456	0.67416	0.0:0.0:0.0:1.0	.	94;83	P45985-2;P45985	.;MP2K4_HUMAN	A	83;94;60	ENSP00000262445:S83A;ENSP00000410402:S94A	ENSP00000262445:S83A	S	+	1	0	MAP2K4	11925426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.123000	0.65237	0.459000	0.35465	TCA		TCGA-IB-7651-01A-11D-2154-08	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	1	0	1	102	358	0	65	1	9.997784e-01	10	36	0	65	2	1	1	134	589	0	663	2	1	1	100	352	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP2K4	6416	broad.mit.edu	37	17	12032574	12032574	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12032574C>A	ENST00000353533.5	+	9	1073	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	MAP2K4_ENST00000415385.3_Missense_Mutation_p.S348Y	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	p.0?(10)|p.?(1)		100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)			AGGGAATTCTCCCCGAGTTTC	0.428000			D, Mis, N		pancreatic, breast, colorectal										Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)						SO:0001583	missense			ENST00000353533.5	1	1	hg19	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983003	0.93044	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26067	1.76;1.76	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.80764	0.994;0.974;0.985	T	0.72855	-0.4166	10	0.87932	D	0	.	17.8069	0.88604	0.0:1.0:0.0:0.0	.	209;348;337	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Y	337;348;314;209	ENSP00000262445:S337Y;ENSP00000410402:S348Y	ENSP00000262445:S337Y	S	+	2	0	MAP2K4	11973299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.805000	0.96524	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	1	0	0	16	336	0	47	1	9.393569e-01	3	99	0	47	2	1	9.999486e-01	41	686	1	602	7	1	9.999317e-01	16	332	0	46	2								-2.831705	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.560000	0.330000	1.000000	0.540000	0.609125	0.560000	0	4.300000e-01	7.800000e-01
YWHAE	7531	broad.mit.edu	37	17	1257631	1257631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1257631C>T	ENST00000264335.8	-	5	856	c.589G>A	c.(589-591)Gca>Aca	p.A197T	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A175T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon			14			OV - Ovarian serous cystadenocarcinoma(18;0.203)		TCAAAAGCTGCTTTTGCCAAC	0.348000			T	FAM22a, FAM22B	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome								Dom	yes		17	17p13.3	7531	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)	yes	M	0							SO:0001583	missense			ENST00000264335.8	0	1	hg19	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020559	0.75275	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.41065	1.01	5.51	5.51	0.81932	14-3-3 domain (4);	0.128998	0.50627	U	0.000101	T	0.27663	0.0680	N	0.11756	0.17	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.06899	-1.0801	10	0.21014	T	0.42	-6.4486	16.9304	0.86189	0.0:1.0:0.0:0.0	.	197	P62258	1433E_HUMAN	T	197;175	ENSP00000264335:A197T	ENSP00000264335:A197T	A	-	1	0	YWHAE	1204381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.885000	0.56182	2.580000	0.87095	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	0	0	0	8	177	0	40	1	1	157	1871	0	40	2		0	0	0	0	0	2	1	9.898493e-01	8	177	0	39	2								-10.576290	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.560000	0.250000	1.000000	0.510000	0.602893	0.560000	0	3.800000e-01	8.600000e-01
YWHAE	7531	broad.mit.edu	37	17	1264567	1264567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1264567C>T	ENST00000264335.8	-	4	664	c.397G>A	c.(397-399)Gca>Aca	p.A133T	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon			14			OV - Ovarian serous cystadenocarcinoma(18;0.203)		GCAAATTCTGCCAGATACCTG	0.373000			T	FAM22a, FAM22B	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome								Dom	yes		17	17p13.3	7531	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)	yes	M	0							SO:0001583	missense			ENST00000264335.8	1	1	hg19	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265945	0.95399	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.52983	0.64	5.25	5.25	0.73442	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.76478	0.3993	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.83363	0.0003	10	0.87932	D	0	-3.0444	16.4303	0.83840	0.0:1.0:0.0:0.0	.	133	P62258	1433E_HUMAN	T	133;111	ENSP00000264335:A133T	ENSP00000264335:A133T	A	-	1	0	YWHAE	1211317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.454000	0.82982	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	1	0	1	96	441	0	100	1	1	594	1426	0	100	2		0	0	0	0	0	2	1	1	94	432	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELAC2	60528	broad.mit.edu	37	17	12903496	12903496	+	Missense_Mutation	SNP	G	G	A	rs140657898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903496G>A	ENST00000338034.4	-	15	1639	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2			23					GCCGTCCTGCGCACTCCTCCT	0.567000																								0							SO:0001583	missense			ENST00000338034.4	0	1	hg19	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537678	0.27475	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.64618	0.29;-0.11;-0.11	5.0	-2.19	0.07015	.	1.307490	0.04695	N	0.414906	T	0.36908	0.0984	N	0.05230	-0.09	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.003;0.0;0.001;0.002;0.003;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.001;0.0;0.001;0.002	T	0.25916	-1.0118	10	0.09084	T	0.74	-0.8698	9.9441	0.41598	0.4499:0.0:0.5501:0.0	.	427;450;448;265;467;227;452;95	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	427;467;448;145	ENSP00000405223:A427V;ENSP00000337445:A467V;ENSP00000379291:A448V	ENSP00000337445:A467V	A	-	2	0	ELAC2	12844221	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.146000	0.03191	-0.586000	0.05898	-0.142000	0.14014	GCG		TCGA-IB-7651-01A-11D-2154-08	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5	1	0	0	37	237	1	43	1	9.888849e-01	83	153	1	43	18		0	0	0	0	0	2	1	9.933835e-01	37	234	1	43	20								-20.000000	1	0	121412	2	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999890	0.990000	1	9.900000e-01	1
ELAC2	60528	broad.mit.edu	37	17	12903547	12903547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903547G>A	ENST00000338034.4	-	15	1588	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	p.A450V(1)		23					AAGCTGCAGCGCCTCAACTAT	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000338034.4	1	1	hg19	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860073	0.32884	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.65178	0.29;-0.13;-0.14	5.0	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	M	0.62723	1.935	0.80722	D	1	D;B;D;B;D;D;P;P	0.89917	1.0;0.414;0.999;0.414;1.0;0.987;0.888;0.55	D;B;D;B;D;P;B;B	0.87578	0.998;0.087;0.966;0.041;0.998;0.64;0.28;0.18	T	0.70135	-0.4955	10	0.27785	T	0.31	-20.3679	11.023	0.47728	0.0901:0.0:0.9099:0.0	.	410;433;431;248;450;210;435;78	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	V	410;450;431;128	ENSP00000405223:A410V;ENSP00000337445:A450V;ENSP00000379291:A431V	ENSP00000337445:A450V	A	-	2	0	ELAC2	12844272	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	7.790000	0.85794	1.345000	0.45676	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5	1	0	1	52	231	0	57	1	1	71	145	0	57	2		0	0	0	0	0	2	1	1	51	227	0	57	2								-20.000000	1	0	121412	1	28	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELAC2	60528	broad.mit.edu	37	17	12909125	12909125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12909125G>T	ENST00000338034.4	-	10	1054	c.815C>A	c.(814-816)gCt>gAt	p.A272D	ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2			23					AATGATGGGAGCGATGGCAGC	0.502000																								0							SO:0001583	missense			ENST00000338034.4	1	1	hg19	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125188	0.20959	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.64618	0.33;-0.1;-0.11	4.85	3.86	0.44501	.	0.436165	0.26463	N	0.024232	T	0.70596	0.3242	M	0.68317	2.08	0.09310	N	0.999999	D;P;D;P;D;P	0.63880	0.987;0.954;0.993;0.839;0.987;0.907	P;P;P;B;P;P	0.56916	0.649;0.467;0.809;0.347;0.649;0.475	T	0.63690	-0.6580	10	0.66056	D	0.02	-19.3785	11.1433	0.48415	0.0:0.1865:0.8135:0.0	.	232;255;253;95;272;32	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.;.;.;.;RNZ2_HUMAN;.	D	232;272;253	ENSP00000405223:A232D;ENSP00000337445:A272D;ENSP00000379291:A253D	ENSP00000337445:A272D	A	-	2	0	ELAC2	12849850	0.815000	0.29118	0.015000	0.15790	0.760000	0.43138	2.003000	0.40844	1.356000	0.45884	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5	1	0	1	89	357	0	80	1	1	45	128	0	80	2		0	0	0	0	0	2	1	1	86	352	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRK	1398	broad.mit.edu	37	17	1340290	1340290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1340290G>A	ENST00000300574.2	-	2	541	c.401C>T	c.(400-402)gCg>gTg	p.A134V	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.A134V|CRK_ENST00000574295.1_Splice_Site	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog			9					CACATACTCCGCCTCCTCCTG	0.463000																								0							SO:0001583	missense			ENST00000300574.2	0	1	hg19	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813633	0.50527	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	T;T	0.40476	2.05;1.03	5.73	4.77	0.60923	Src homology-3 domain (2);	0.486247	0.24130	N	0.041279	T	0.21631	0.0521	N	0.10733	0.035	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.06607	-1.0817	10	0.26408	T	0.33	-10.8069	9.0027	0.36092	0.166:0.0:0.834:0.0	.	134;134	P46108-2;P46108	.;CRK_HUMAN	V	134	ENSP00000300574:A134V;ENSP00000381942:A134V	ENSP00000300574:A134V	A	-	2	0	CRK	1287040	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.324000	0.43831	1.571000	0.49722	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	1	0	1	128	445	0	136	1	1	56	165	0	136	2		0	0	0	0	0	2	1	1	126	436	0	134	2								-20.000000	1	1	121412	4	38	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1C	4641	broad.mit.edu	37	17	1381256	1381256	+	Missense_Mutation	SNP	C	C	T	rs147805425	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381256C>T	ENST00000575158.1	-	13	1482	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I|MYO1C_ENST00000359786.5_Missense_Mutation_p.V471I|MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC			17					AAATACTGGACGGGCTCCCAC	0.592000																								0							SO:0001583	missense			ENST00000575158.1	1	1	hg19	CCDS11003.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.92	2.082513	0.36758	0.0	1.16E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.07	5.07	0.68467	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	N	0.05441	-0.05	0.54753	D	0.999989	B;B;B	0.32620	0.18;0.378;0.149	B;B;B	0.31337	0.052;0.128;0.031	T	0.70392	-0.4884	10	0.18276	T	0.48	.	17.7747	0.88503	0.0:1.0:0.0:0.0	.	447;471;452	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	I	471;452;452;436;447;436	ENSP00000352834:V471I;ENSP00000412197:V452I;ENSP00000354283:V436I;ENSP00000437685:V447I	ENSP00000352834:V471I	V	-	1	0	MYO1C	1328006	0.999000	0.42202	1.000000	0.80357	0.872000	0.50106	4.021000	0.57196	2.507000	0.84556	0.563000	0.77884	GTC		TCGA-IB-7651-01A-11D-2154-08	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2	1	0	1	150	561	0	143	1	1	94	349	0	143	2		0	0	0	0	0	2	1	1	147	550	0	140	2								-3.970938	1	1	121412	9	45	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1C	4641	broad.mit.edu	37	17	1381754	1381754	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381754C>T	ENST00000575158.1	-	11	1316	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	MYO1C_ENST00000545534.2_Silent_p.T391T|MYO1C_ENST00000359786.5_Silent_p.T415T|MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC			17					GCCCGAGAACCGTGGTGCTCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000575158.1	1	1	hg19	CCDS11003.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2	1	0	1	79	452	0	77	1	1	123	336	0	77	2		0	0	0	0	0	2	1	1	77	443	0	76	2								-2.880030	1	1	121412	1	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITPNA	5306	broad.mit.edu	37	17	1438814	1438814	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1438814T>C	ENST00000313486.7	-	8	712		c.e8-2		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha			7					CTTGTAATCCTGAGAGAAATT	0.478000																								0							SO:0001630	splice_region_variant			ENST00000313486.7	1	1	hg19	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187847	0.78789	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.913	0.70773	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITPNA	1385564	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.933000	0.87642	2.205000	0.71048	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3	1	0	1	36	161	0	34	0	3.532663e-02	1	1	0	34	2		0	0	0	0	0	2	1	1	34	154	0	33	2								-19.967110	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC43A2	124935	broad.mit.edu	37	17	1479048	1479048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1479048C>T	ENST00000301335.5	-	14	1648	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	SLC43A2_ENST00000571650.1_Silent_p.G524G|SLC43A2_ENST00000382147.4_Silent_p.G524G|SLC43A2_ENST00000412517.3_Silent_p.G383G	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2			12					GAAGGAGCAGCCCCACGTTCA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000301335.5	1	1	hg19	CCDS11006.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	1	0	1	32	97	0	24	1	1	12	81	0	24	2		0	0	0	0	0	2	1	1	32	95	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC43A2	124935	broad.mit.edu	37	17	1494748	1494748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1494748C>T	ENST00000301335.5	-	8	834	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC43A2_ENST00000571650.1_Missense_Mutation_p.S249N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N|SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2			12					GCCCAGCCAGCTGAACTTGAT	0.687000																								0							SO:0001583	missense			ENST00000301335.5	1	1	hg19	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465755	0.84425	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.34275	1.83;1.85;1.37	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	L	0.49350	1.555	0.80722	D	1	D;D;B;B	0.71674	0.998;0.998;0.182;0.151	D;D;B;B	0.80764	0.957;0.994;0.058;0.144	T	0.30268	-0.9984	10	0.19147	T	0.46	-21.9657	20.6439	0.99570	0.0:1.0:0.0:0.0	.	112;249;249;249	B7Z6X9;Q8N370-2;Q8N370;Q8N370-3	.;.;LAT4_HUMAN;.	N	249;249;112	ENSP00000301335:S249N;ENSP00000371582:S249N;ENSP00000408284:S112N	ENSP00000301335:S249N	S	-	2	0	SLC43A2	1441498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.666000	0.61554	2.884000	0.98904	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	1	0	0	72	361	0	81	1	9.999960e-01	4	88	0	81	2		0	0	0	0	0	2	1	1	72	357	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMP22	5376	broad.mit.edu	37	17	15134314	15134314	+	Missense_Mutation	SNP	C	C	T	rs141094419	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15134314C>T	ENST00000395938.2	-	5	597	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	PMP22_ENST00000494511.1_Missense_Mutation_p.R75H|PMP22_ENST00000312280.3_Missense_Mutation_p.A135T|PMP22_ENST00000395936.1_3'UTR	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22			8					AGGATGTAGGCGAAACCGTAG	0.602000																								0							SO:0001583	missense			ENST00000395938.2	1	0	hg19	CCDS11168.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	7.414	0.635436	0.14322	0.008171	0.0	ENSG00000109099	ENST00000395938;ENST00000312280	D;D	0.91068	-2.78;-2.78	5.05	0.627	0.17675	.	0.336619	0.35436	N	0.003211	D	0.82715	0.5097	M	0.72894	2.215	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.75983	-0.3125	10	0.56958	D	0.05	-27.4143	4.9521	0.14019	0.2546:0.5323:0.0:0.2132	.	135	Q01453	PMP22_HUMAN	T	135	ENSP00000379269:A135T;ENSP00000308937:A135T	ENSP00000308937:A135T	A	-	1	0	PMP22	15075039	0.083000	0.21467	0.166000	0.22797	0.230000	0.25150	0.469000	0.22067	0.015000	0.14971	-0.214000	0.12660	GCC		TCGA-IB-7651-01A-11D-2154-08	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	1	0	1	70	330	0	75	1	1	38	779	0	75	2		0	0	0	0	0	2	1	1	68	322	0	74	2								-3.758799	1	1	121412	107	51	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC43A2	124935	broad.mit.edu	37	17	1519929	1519929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1519929G>A	ENST00000301335.5	-	3	383	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	SLC43A2_ENST00000571650.1_Missense_Mutation_p.L99F|snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2			12					ATGGCACTGAGCAGAAAGGAG	0.622000																								0							SO:0001583	missense			ENST00000301335.5	0	1	hg19	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699104	0.88830	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	T;T	0.71817	-0.6;-0.6	4.36	4.36	0.52297	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.91635	0.999;0.95;0.994	T	0.77928	-0.2404	10	0.10377	T	0.69	-22.1218	18.2018	0.89840	0.0:0.0:1.0:0.0	.	99;99;99	Q8N370-2;Q8N370;Q8N370-3	.;LAT4_HUMAN;.	F	99	ENSP00000301335:L99F;ENSP00000371582:L99F	ENSP00000301335:L99F	L	-	1	0	SLC43A2	1466679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.715000	0.92844	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	0	0	0	5	199	0	32	0	5.550632e-01	0	68	0	32	2		0	0	0	0	0	2	1	9.366919e-01	5	197	0	31	2								-6.861365	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.330000	0.120000	1.000000	0.280000	0.407611	0.330000	0	2.000000e-01	5.700000e-01
TEKT3	64518	broad.mit.edu	37	17	15212016	15212016	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15212016C>T	ENST00000395930.1	-	8	1407	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	TEKT3_ENST00000462175.1_5'Flank|TEKT3_ENST00000338696.2_Silent_p.P407P|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3			23					ACTCAATGTTCGGCCGTCTTG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000395930.1	1	1	hg19	CCDS11169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	1	0	1	100	436	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	97	425	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEKT3	64518	broad.mit.edu	37	17	15234932	15234932	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15234932C>T	ENST00000395930.1	-	3	158		c.e3-1		TEKT3_ENST00000338696.2_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3			23					TAAATCTCTCCTGTTAAAAAA	0.373000																								0							SO:0001630	splice_region_variant			ENST00000395930.1	1	1	hg19	CCDS11169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	1	0	0	29	106	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	1	29	101	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDRT4	284040	broad.mit.edu	37	17	15341153	15341153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341153G>T	ENST00000312177.6	-	4	673	c.393C>A	c.(391-393)aaC>aaA	p.N131K	CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4			4					TCTTGTTATAGTTTTCAGTTG	0.478000																								0							SO:0001583	missense			ENST00000312177.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.21	2.764707	0.49574	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.33438	1.41	4.98	1.66	0.24008	.	0.729990	0.12744	N	0.442764	T	0.25754	0.0627	L	0.56769	1.78	0.09310	N	0.999999	B	0.27882	0.192	B	0.25759	0.063	T	0.28459	-1.0043	10	0.62326	D	0.03	-3.0843	3.8536	0.08965	0.2239:0.2043:0.5718:0.0	.	131	Q8N9R6	CDRT4_HUMAN	K	132;131	ENSP00000310031:N131K	ENSP00000310031:N131K	N	-	3	2	CDRT4	15281878	0.391000	0.25221	0.029000	0.17559	0.701000	0.40568	1.313000	0.33585	0.665000	0.31066	0.650000	0.86243	AAC		TCGA-IB-7651-01A-11D-2154-08	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	1	0	1	61	228	0	56	1	9.411036e-01	3	17	0	56	2		0	0	0	0	0	2	1	1	61	225	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDRT4	284040	broad.mit.edu	37	17	15341418	15341418	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341418A>G	ENST00000312177.6	-	4	408	c.128T>C	c.(127-129)aTt>aCt	p.I43T	CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4			4					GCTTTTCTCAATGAGTCTTTT	0.493000																								0							SO:0001583	missense			ENST00000312177.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	12.06	1.823926	0.32237	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.34472	1.36	5.01	3.93	0.45458	.	0.119145	0.38058	N	0.001826	T	0.25644	0.0624	L	0.42245	1.32	0.80722	D	1	B	0.30937	0.301	B	0.27715	0.082	T	0.05321	-1.0892	10	0.27082	T	0.32	-19.6174	6.6705	0.23066	0.8924:0.0:0.1076:0.0	.	43	Q8N9R6	CDRT4_HUMAN	T	44;43	ENSP00000310031:I43T	ENSP00000310031:I43T	I	-	2	0	CDRT4	15282143	0.916000	0.31088	0.659000	0.29680	0.106000	0.19336	2.505000	0.45424	0.956000	0.37904	0.482000	0.46254	ATT		TCGA-IB-7651-01A-11D-2154-08	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	1	0	1	89	419	0	96	1	9.866563e-01	3	31	0	96	2		0	0	0	0	0	2	1	1	88	414	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCARF1	8578	broad.mit.edu	37	17	1538795	1538795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1538795G>A	ENST00000263071.4	-	11	1799	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1			20					CGCTTGGCCCGAGCTAGGCTG	0.672000																								0							SO:0001583	missense			ENST00000263071.4	1	1	hg19	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888416	0.72524	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.35789	1.29;1.29	5.21	0.552	0.17230	.	0.000000	0.38897	N	0.001532	T	0.54303	0.1850	L	0.57536	1.79	0.27762	N	0.943808	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.974	T	0.58457	-0.7633	10	0.87932	D	0	-23.6421	16.2366	0.82380	0.0:0.0:0.2687:0.7313	.	498;584	Q14162-2;Q14162	.;SREC_HUMAN	W	584;498	ENSP00000263071:R584W;ENSP00000323964:R498W	ENSP00000263071:R584W	R	-	1	2	SCARF1	1485545	1.000000	0.71417	0.259000	0.24435	0.979000	0.70002	2.324000	0.43831	-0.099000	0.12263	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	1	0	0	57	615	0	110	0	6.822730e-01	0	27	0	110	2		0	0	0	0	0	2	1	1	57	606	0	110	2								-3.075755	1	1	121406	2	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.780000	1.000000	1.000000	0.961707	0.990000	1	8.900000e-01	1
CDRT1	374286	broad.mit.edu	37	17	15522551	15522551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15522551G>A	ENST00000395906.3	-	1	275	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1			10					TGCTGAGGTCGATCCGGGACC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000395906.3	1	1	hg19	CCDS45619.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	1	0	1	129	652	0	172	0	2.774194e-02	1	1	0	172	2		0	0	0	0	0	2	1	1	127	638	0	171	2								-20.000000	1	1	121412	40	49	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM16	10626	broad.mit.edu	37	17	15532139	15532139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15532139G>A	ENST00000578237.1	-	11	2340	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	TRIM16_ENST00000577886.1_Silent_p.L279L|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000416464.2_Silent_p.L365L|TRIM16_ENST00000336708.7_Silent_p.L495L|TRIM16_ENST00000579219.1_3'UTR			O95361	TRI16_HUMAN	tripartite motif containing 16			19					TATAGACCCCGAGCCTCCGGA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000578237.1	1	0	hg19	CCDS11171.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	1	0	0	27	436	0	110	1	9.999976e-01	19	315	0	110	2		0	0	0	0	0	2	1	1	27	428	0	108	2								-3.075785	1	1	121412	47	49	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.710000	0.470000	1.000000	0.680000	0.738420	0.710000	0	5.800000e-01	9.200000e-01
ZNF286A	57335	broad.mit.edu	37	17	15620048	15620048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15620048G>A	ENST00000464847.2	+	5	1563	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	p.R337Q(1)		24					GGTTTTAATCGAAGTACACAT	0.378000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000464847.2	0	1	hg19	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	5.552	0.286729	0.10513	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.07444	3.19;3.19	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33290	N	0.005063	T	0.03053	0.0090	N	0.11106	0.095	0.09310	N	1	B	0.33826	0.427	B	0.24006	0.05	T	0.38735	-0.9647	10	0.02654	T	1	-8.8043	9.6418	0.39844	0.0:0.0:0.7918:0.2081	.	337	Q9HBT8	Z286A_HUMAN	Q	337;327;337	ENSP00000397163:R337Q;ENSP00000408168:R327Q	ENSP00000435872:R337Q	R	+	2	0	ZNF286A	15560773	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.266000	0.18534	2.335000	0.79485	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	1	0	0	15	213	0	40	0	6.229696e-02	0	6	0	40	2		0	0	0	0	0	2	1	9.997697e-01	13	194	0	55	2								-5.851547	1	1	121406	2	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.820000	0.470000	1.000000	1.000000	0.812444	0.820000	0	6.200000e-01	1
PRPF8	10594	broad.mit.edu	37	17	1563232	1563232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563232G>A	ENST00000572621.1	-	30	5114	c.4849C>T	c.(4849-4851)Cga>Tga	p.R1617*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8			77					TATGACTTTCGGGGATGGATT	0.448000																								0							SO:0001587	stop_gained			ENST00000572621.1	0	1	hg19	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	g	45	12.059471	0.99632	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	.	.	.	6.06	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5008	15.7685	0.78146	0.0:0.0:0.6624:0.3376	.	.	.	.	X	1617;144	.	ENSP00000304350:R1617X	R	-	1	2	PRPF8	1509982	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.556000	0.45862	1.533000	0.49186	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	1	0	1	78	358	0	88	1	1	9	259	0	88	2		0	0	0	0	0	2	1	1	78	347	0	86	2								-2.665731	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPF8	10594	broad.mit.edu	37	17	1563837	1563837	+	Silent	SNP	C	C	T	rs140446903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563837C>T	ENST00000572621.1	-	29	4939	c.4674G>A	c.(4672-4674)acG>acA	p.T1558T	PRPF8_ENST00000304992.6_Silent_p.T1558T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8			77					TGAAGATACCCGTCAGGTCTA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000572621.1	1	1	hg19	CCDS11010.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0	0	0	25	863	0	195	1	9.982054e-01	20	316	0	195	2		0	0	0	0	0	2	1	9.999998e-01	25	848	0	195	2								-1.914803	0	1	121412	21	47	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.340000	0.220000	1.000000	0.330000	0.413892	0.340000	0	2.700000e-01	4.500000e-01
PRPF8	10594	broad.mit.edu	37	17	1576444	1576444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1576444C>T	ENST00000572621.1	-	23	3970	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	PRPF8_ENST00000304992.6_Silent_p.E1235E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8			77					GCTGCATTGACTCATCGTCCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000572621.1	1	1	hg19	CCDS11010.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0	0	0	13	339	0	62	1	9.934740e-01	7	214	0	62	2		0	0	0	0	0	2	1	9.994531e-01	13	328	0	62	2								-13.606670	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.460000	0.250000	1.000000	0.430000	0.520130	0.460000	0	3.400000e-01	6.600000e-01
PRPF8	10594	broad.mit.edu	37	17	1585273	1585273	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1585273C>T	ENST00000572621.1	-	4	759	c.494G>A	c.(493-495)cGt>cAt	p.R165H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8			77					AGGGGGAAAACGCATCCTCTT	0.502000																								0							SO:0001583	missense			ENST00000572621.1	1	1	hg19	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	32	5.154767	0.94686	.	.	ENSG00000174231	ENST00000304992	T	0.55588	0.51	5.47	5.47	0.80525	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.82096	-0.0626	10	0.72032	D	0.01	.	19.3655	0.94460	0.0:1.0:0.0:0.0	.	165	Q6P2Q9	PRP8_HUMAN	H	165	ENSP00000304350:R165H	ENSP00000304350:R165H	R	-	2	0	PRPF8	1532023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.789000	0.85783	2.580000	0.87095	0.550000	0.68814	CGT		TCGA-IB-7651-01A-11D-2154-08	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	1	0	1	75	297	0	83	1	1	77	131	0	83	2		0	0	0	0	0	2	1	1	71	285	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOR1	9611	broad.mit.edu	37	17	15938174	15938174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15938174G>A	ENST00000268712.3	-	45	7297	c.7040C>T	c.(7039-7041)aCg>aTg	p.T2347M	NCOR1_ENST00000395857.3_Missense_Mutation_p.T931M|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1			107					GGGCCGTTCCGTTCCTAAGTA	0.502000																								0							SO:0001583	missense			ENST00000268712.3	0	1	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886070	0.72410	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.48522	0.81;1.39;0.81	5.35	4.36	0.52297	.	0.431594	0.29572	N	0.011776	T	0.63534	0.2519	L	0.54323	1.7	0.31714	N	0.639108	D;B;D;P;P	0.76494	0.961;0.298;0.999;0.914;0.951	P;B;D;P;P	0.73380	0.518;0.09;0.98;0.595;0.727	T	0.71513	-0.4570	10	0.87932	D	0	-0.5725	15.0177	0.71600	0.0:0.1555:0.8444:0.0	.	2250;2347;2244;866;360	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	M	2347;2244;2250;931	ENSP00000268712:T2347M;ENSP00000379192:T2244M;ENSP00000379198:T931M	ENSP00000268712:T2347M	T	-	2	0	NCOR1	15878899	1.000000	0.71417	0.046000	0.18839	0.962000	0.63368	4.224000	0.58593	1.362000	0.46000	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	0	0	0	15	553	1	72	1	5.195092e-02	14	165	1	72	10		0	0	0	0	0	2	0	8.750127e-02	15	545	1	72	24								-2.932323	1	1	121412	3	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.330000	0.180000	1.000000	0.310000	0.400906	0.330000	0	2.500000e-01	4.600000e-01
NCOR1	9611	broad.mit.edu	37	17	15989754	15989754	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989754G>T	ENST00000268712.3	-	23	3276	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1			107					GCAGGCTGAAGGACTTTTAAA	0.428000																								0							SO:0001583	missense			ENST00000268712.3	1	1	hg19	CCDS11175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.162501|3.162501	0.57368|0.57368	.|.	.|.	ENSG00000141027|ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849|ENST00000436068	D;D|.	0.85171|.	-1.95;-1.95|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55940|0.55940	0.1952|0.1952	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.629;0.745|.	D;B;P|.	0.72625|.	0.978;0.212;0.504|.	T|T	0.48559|0.48559	-0.9025|-0.9025	10|5	0.11485|.	T|.	0.65|.	-7.6952|-7.6952	17.5022|17.5022	0.87735|0.87735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	914;1007;1023|.	Q7Z516;O75376;O75376-2|.	.;NCOR1_HUMAN;.|.	I|H	1007;1023;914|78	ENSP00000268712:L1007I;ENSP00000379192:L1023I|.	ENSP00000268712:L1007I|.	L|P	-|-	1|2	0|0	NCOR1|NCOR1	15930479|15930479	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.833000|0.833000	0.47200|0.47200	5.911000|5.911000	0.69939|0.69939	2.816000|2.816000	0.96949|0.96949	0.644000|0.644000	0.83932|0.83932	CTT|CCT		TCGA-IB-7651-01A-11D-2154-08	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	1	52	175	0	48	1	9.999993e-01	31	45	0	48	2		0	0	0	0	0	2	1	1	51	169	0	48	2								-4.116279	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOR1	9611	broad.mit.edu	37	17	15989758	15989758	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989758T>G	ENST00000268712.3	-	23	3274		c.e23-2		NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1			107					GCTGAAGGACTTTTAAAAGGA	0.418000																								0							SO:0001630	splice_region_variant			ENST00000268712.3	1	1	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654394	0.67472	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000436068	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1246	0.65213	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15930483	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.235000	0.72332	2.272000	0.75746	0.524000	0.50904	.		TCGA-IB-7651-01A-11D-2154-08	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	0	30	178	0	44	0	6.600613e-01	0	15	0	44	2		0	0	0	0	0	2	1	1	30	170	0	44	2								-15.565780	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999889	0.990000	1	9.900000e-01	1
NCOR1	9611	broad.mit.edu	37	17	16024477	16024477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16024477G>A	ENST00000268712.3	-	16	1998	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1			107					CGGCCCTTACGGCGGCCCTGA	0.597000																								0							SO:0001583	missense			ENST00000268712.3	1	1	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524587	0.85600	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.33865	1.39;1.39;1.39	5.7	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	P;P;D	0.87578	0.863;0.556;0.998	T	0.59322	-0.7476	10	0.87932	D	0	-9.9335	14.0288	0.64601	0.0:0.0:0.5936:0.4064	.	472;581;581	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	C	581;581;472;472	ENSP00000268712:R581C;ENSP00000379192:R581C;ENSP00000379189:R472C	ENSP00000268712:R581C	R	-	1	0	NCOR1	15965202	1.000000	0.71417	0.922000	0.36590	0.990000	0.78478	3.895000	0.56258	0.268000	0.21939	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	1	139	659	0	116	1	9.999998e-01	7	97	0	116	2		0	0	0	0	0	2	1	1	136	633	0	106	2								-2.657411	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOR1	9611	broad.mit.edu	37	17	16049816	16049816	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16049816T>C	ENST00000268712.3	-	10	1213	c.956A>G	c.(955-957)gAg>gGg	p.E319G	NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G|NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1			107					CACTTTTTTCTCCCATGCCTC	0.343000																								0							SO:0001583	missense			ENST00000268712.3	1	1	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751672	0.49362	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	L	0.44542	1.39	0.80722	D	1	D;D;D;P;D;D	0.89917	0.974;0.974;0.974;0.92;0.978;1.0	P;P;P;P;P;D	0.85130	0.776;0.776;0.776;0.573;0.867;0.997	D	0.87494	0.2429	10	0.87932	D	0	-11.7257	15.2981	0.73925	0.0:0.0:0.0:1.0	.	328;319;319;210;319;319	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	G	319;319;210;328;210;319;328	ENSP00000268712:E319G;ENSP00000379192:E319G;ENSP00000379189:E210G;ENSP00000407998:E319G;ENSP00000387727:E328G	ENSP00000268712:E319G	E	-	2	0	NCOR1	15990541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.270000	0.75569	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	1	66	251	0	40	1	1	6	127	0	40	2		0	0	0	0	0	2	1	1	65	247	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOR1	9611	broad.mit.edu	37	17	16075231	16075231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16075231C>A	ENST00000268712.3	-	4	578	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1			107					GACGTGGTCGCTTCGATTCCA	0.483000																								0							SO:0001583	missense			ENST00000268712.3	1	1	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501099	0.26861	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.57436	0.4;1.06	5.81	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.995;0.996	T	0.65594	-0.6130	10	0.87932	D	0	-15.0086	8.382	0.32477	0.0:0.6346:0.0:0.3654	.	107;107;107;107;107;107	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	N	107	ENSP00000268712:K107N;ENSP00000379192:K107N	ENSP00000268712:K107N	K	-	3	2	NCOR1	16015956	0.999000	0.42202	0.342000	0.25602	0.745000	0.42441	0.576000	0.23744	0.384000	0.24942	-0.137000	0.14449	AAG		TCGA-IB-7651-01A-11D-2154-08	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	1	0	1	33	159	0	53	1	9.999779e-01	29	55	0	53	2		0	0	0	0	0	2	1	1	31	156	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PIGL	9487	broad.mit.edu	37	17	16120588	16120588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120588G>A	ENST00000225609.5	+	1	65	c.48G>A	c.(46-48)tgG>tgA	p.W16*	PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000395844.4_Nonsense_Mutation_p.W16*|PIGL_ENST00000463810.1_3'UTR|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L			11					TCTTGGCATGGGGCTTCCTCT	0.612000																								0							SO:0001587	stop_gained			ENST00000225609.5	0	1	hg19	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.270030	0.59540	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	.	.	.	5.22	1.6	0.23607	.	0.885835	0.09977	N	0.731447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.0087	8.2005	0.31421	0.0:0.3186:0.5178:0.1636	.	.	.	.	X	16	.	ENSP00000225609:W16X	W	+	3	0	PIGL	16061313	0.237000	0.23815	0.030000	0.17652	0.199000	0.23934	1.056000	0.30480	1.146000	0.42352	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1	1	0	0	51	265	0	70	1	9.936563e-01	10	33	0	70	2		0	0	0	0	0	2	1	1	50	257	0	70	2								-2.826746	1	0	121412	1	28	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIGL	9487	broad.mit.edu	37	17	16120611	16120611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120611C>T	ENST00000225609.5	+	1	88	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000395844.4_Missense_Mutation_p.S24F|PIGL_ENST00000463810.1_3'UTR|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L			11					GTTTGGGACTCCTCAGAACGA	0.587000																								0							SO:0001583	missense			ENST00000225609.5	1	1	hg19	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667515	0.29604	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	T;T	0.78364	-1.1;-1.17	5.49	-1.33	0.09172	.	1.039030	0.07536	N	0.913102	T	0.60612	0.2282	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.39981	-0.9587	10	0.09843	T	0.71	-0.3025	5.2966	0.15756	0.0:0.4091:0.1566:0.4343	.	24;24	B4DYN4;Q9Y2B2	.;PIGL_HUMAN	F	24	ENSP00000225609:S24F;ENSP00000379185:S24F	ENSP00000225609:S24F	S	+	2	0	PIGL	16061336	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.094000	0.11094	0.016000	0.14998	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1	1	0	1	69	257	0	75	1	9.926854e-01	10	21	0	75	2		0	0	0	0	0	2	1	1	68	255	0	74	2								-3.868133	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIGL	9487	broad.mit.edu	37	17	16216893	16216893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16216893C>T	ENST00000225609.5	+	4	476	c.459C>T	c.(457-459)ggC>ggT	p.G153G	PIGL_ENST00000498772.2_Silent_p.G153G|PIGL_ENST00000395844.4_Silent_p.G153G|PIGL_ENST00000581006.1_Intron	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L			11					GAGTAAGTGGCCACAGCAATC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000225609.5	1	1	hg19	CCDS11176.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1	1	0	1	73	477	0	108	1	9.278489e-01	9	22	0	108	2		0	0	0	0	0	2	1	1	71	462	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TRPV2	51393	broad.mit.edu	37	17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	RP11-138I1.2_ENST00000580996.1_RNA|TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2			28					CCTCAACTACCGAAAGGGAAC	0.597000																								0							SO:0001587	stop_gained			ENST00000338560.7	0	1	hg19	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001196	0.97189	2.27E-4	0.0	ENSG00000187688	ENST00000338560	.	.	.	5.39	-2.24	0.06909	.	1.424990	0.04676	N	0.411446	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.9845	6.2534	0.20859	0.4311:0.4048:0.0989:0.0652	.	.	.	.	X	61	.	ENSP00000342222:R61X	R	+	1	2	TRPV2	16261888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.436000	0.06922	-0.909000	0.03852	-2.039000	0.00418	CGA		TCGA-IB-7651-01A-11D-2154-08	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1	24	157	0	41	0	9.997450e-01	0	90	0	41	2		0	0	0	0	0	2	1	9.999997e-01	23	154	0	41	2								-20.000000	1	1	121410	2	27	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999058	0.990000	1	9.900000e-01	1
TRPV2	51393	broad.mit.edu	37	17	16330045	16330045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330045C>T	ENST00000338560.7	+	7	1504	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2			28					GCACCGACACCGAATGGTCGT	0.517000																								0							SO:0001587	stop_gained			ENST00000338560.7	0	1	hg19	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	42	9.196707	0.99098	.	.	ENSG00000187688	ENST00000338560	.	.	.	5.29	3.17	0.36434	.	0.277108	0.40144	N	0.001171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-42.5873	11.3436	0.49548	0.5677:0.4323:0.0:0.0	.	.	.	.	X	369	.	ENSP00000342222:R369X	R	+	1	2	TRPV2	16270770	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.131000	0.31406	1.251000	0.43983	-0.225000	0.12378	CGA		TCGA-IB-7651-01A-11D-2154-08	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	0	0	0	11	308	0	71	0	9.076694e-01	0	119	0	71	2		0	0	0	0	0	2	1	9.979583e-01	10	295	0	69	2								-2.725170	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.440000	0.220000	1.000000	0.400000	0.496830	0.440000	0	3.100000e-01	6.400000e-01
TRPV2	51393	broad.mit.edu	37	17	16330160	16330160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330160C>T	ENST00000338560.7	+	7	1619	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TRPV2_ENST00000577397.1_Intron|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2			28					ATCTTCACCGCTGTTGCCTAC	0.532000																								0							SO:0001583	missense			ENST00000338560.7	1	1	hg19	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283833	0.23392	.	.	ENSG00000187688	ENST00000338560	D	0.88431	-2.38	5.78	4.58	0.56647	.	0.461480	0.25964	N	0.027178	T	0.76485	0.3994	N	0.12831	0.26	0.09310	N	0.999993	B	0.06786	0.001	B	0.10450	0.005	T	0.60667	-0.7218	10	0.20046	T	0.44	-28.5902	8.3753	0.32440	0.0:0.7901:0.0:0.2099	.	407	Q9Y5S1	TRPV2_HUMAN	V	407	ENSP00000342222:A407V	ENSP00000342222:A407V	A	+	2	0	TRPV2	16270885	0.000000	0.05858	0.001000	0.08648	0.582000	0.36321	0.516000	0.22817	1.105000	0.41606	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1	60	268	0	51	0	9.999999e-01	0	110	0	51	2		0	0	0	0	0	2	1	1	59	260	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPV2	51393	broad.mit.edu	37	17	16335315	16335315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16335315G>A	ENST00000338560.7	+	12	2089	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2			28					TTGGCGCCCCGAAGCTCCTAC	0.647000																								0							SO:0001583	missense			ENST00000338560.7	1	1	hg19	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597432	0.28445	2.27E-4	0.0	ENSG00000187688	ENST00000338560	D	0.89552	-2.53	4.55	-2.93	0.05598	Ion transport (1);	4.637680	0.00397	N	0.000041	T	0.72676	0.3490	N	0.04724	-0.175	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.68762	-0.5323	10	0.06891	T	0.86	-31.6603	5.3118	0.15835	0.445:0.1439:0.4112:0.0	.	564	Q9Y5S1	TRPV2_HUMAN	K	564	ENSP00000342222:E564K	ENSP00000342222:E564K	E	+	1	0	TRPV2	16276040	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.404000	0.01045	-0.940000	0.03705	0.449000	0.29647	GAA		TCGA-IB-7651-01A-11D-2154-08	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1	59	246	0	50	0	1	0	127	0	50	2		0	0	0	0	0	2	1	1	57	238	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2			28					GATGCTGACCGTTGGCACTAA	0.592000																								0							SO:0001583	missense			ENST00000338560.7	1	1	hg19	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846704	0.32606	.	.	ENSG00000187688	ENST00000338560	D	0.90324	-2.65	5.79	5.79	0.91817	.	0.058083	0.64402	D	0.000002	D	0.86322	0.5905	L	0.32530	0.975	0.54753	D	0.999981	P	0.34815	0.47	B	0.33521	0.165	D	0.84716	0.0737	10	0.36615	T	0.2	-24.5954	17.5351	0.87827	0.0:0.0:1.0:0.0	.	690	Q9Y5S1	TRPV2_HUMAN	I	690	ENSP00000342222:V690I	ENSP00000342222:V690I	V	+	1	0	TRPV2	16277691	1.000000	0.71417	0.182000	0.23118	0.116000	0.19942	5.992000	0.70609	2.751000	0.94390	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1	86	416	0	85	0	1	0	141	0	85	2		0	0	0	0	0	2	1	1	86	411	0	85	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPV2	51393	broad.mit.edu	37	17	16340106	16340106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16340106C>T	ENST00000338560.7	+	15	2597	c.2198C>T	c.(2197-2199)aCt>aTt	p.T733I	C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2			28					TTTACAGGAACTCTCGAGAAC	0.552000																								0							SO:0001583	missense			ENST00000338560.7	1	1	hg19	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	5.905	0.350976	0.11182	.	.	ENSG00000187688	ENST00000338560	D	0.88201	-2.35	3.73	0.454	0.16644	.	1.775310	0.03096	N	0.160447	T	0.80686	0.4670	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.61888	-0.6970	10	0.22109	T	0.4	-23.241	1.9786	0.03421	0.2164:0.4745:0.1926:0.1165	.	733	Q9Y5S1	TRPV2_HUMAN	I	733	ENSP00000342222:T733I	ENSP00000342222:T733I	T	+	2	0	TRPV2	16280831	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.164000	0.16542	0.141000	0.18875	0.561000	0.74099	ACT		TCGA-IB-7651-01A-11D-2154-08	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	1	0	1	96	469	0	136	0	1	0	120	0	136	2		0	0	0	0	0	2	1	1	94	456	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF287	57336	broad.mit.edu	37	17	16455434	16455434	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16455434T>C	ENST00000395824.1	-	6	2639	c.2022A>G	c.(2020-2022)aaA>aaG	p.K674K	ZNF287_ENST00000395825.3_Silent_p.K674K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287			20					ATTTATAGGGTTTTTCTCCAG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000395824.1	1	1	hg19	CCDS11179.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1	1	0	1	76	241	0	69	0	3.475369e-01	0	5	0	69	2		0	0	0	0	0	2	1	1	75	235	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF287	57336	broad.mit.edu	37	17	16456289	16456289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16456289G>A	ENST00000395824.1	-	6	1784	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	ZNF287_ENST00000395825.3_Silent_p.T389T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287			20					CTTTGGCATGGGTACTTTGGT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000395824.1	1	1	hg19	CCDS11179.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1	1	0	1	161	650	0	113	1	5.604606e-01	3	6	0	113	2		0	0	0	0	0	2	1	1	160	638	0	113	2								-3.119046	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINF2	5345	broad.mit.edu	37	17	1652003	1652003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1652003G>A	ENST00000324015.3	+	8	904	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H|SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2			12				Ocriplasmin(DB08888)	TACCCGCTGCGCTGGTTCTTG	0.622000																								0							SO:0001583	missense			ENST00000324015.3	1	1	hg19	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071902	0.36566	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000453723;ENST00000382061	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.95	2.97	0.34412	Serpin domain (3);	0.131813	0.64402	N	0.000003	T	0.78104	0.4231	L	0.49778	1.585	0.33688	D	0.612924	B;B	0.29378	0.243;0.097	B;B	0.18263	0.021;0.009	T	0.76686	-0.2868	9	.	.	.	.	11.6226	0.51126	0.1465:0.0:0.8535:0.0	.	212;276	B4E1B7;P08697	.;A2AP_HUMAN	H	276;212;160;276	ENSP00000321853:R276H;ENSP00000403877:R212H;ENSP00000402056:R160H;ENSP00000371493:R276H	.	R	+	2	0	SERPINF2	1598753	1.000000	0.71417	0.947000	0.38551	0.101000	0.19017	4.817000	0.62650	0.617000	0.30160	-0.244000	0.11960	CGC		TCGA-IB-7651-01A-11D-2154-08	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	1	0	0	36	600	0	117	0	4.376961e-02	0	6	0	117	2		0	0	0	0	0	2	1	1	35	591	0	115	2								-6.540859	1	1	121412	1	32	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.690000	0.480000	1.000000	0.670000	0.717519	0.690000	0	5.700000e-01	8.600000e-01
ZNF624	57547	broad.mit.edu	37	17	16537218	16537218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16537218G>A	ENST00000311331.7	-	5	425	c.334C>T	c.(334-336)Cca>Tca	p.P112S	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624			26					GTCACCCATGGTCCTTTCCCA	0.413000													NSCLC(186;1023 2134 13330 38202 39800)											0							SO:0001583	missense			ENST00000311331.7	1	1	hg19	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194827	0.22037	.	.	ENSG00000197566	ENST00000311331	T	0.08282	3.11	3.63	2.65	0.31530	Krueppel-associated box (2);	.	.	.	.	T	0.20780	0.0500	L	0.59967	1.855	0.23673	N	0.997146	D	0.89917	1.0	D	0.79108	0.992	T	0.03695	-1.1012	9	0.36615	T	0.2	.	8.7679	0.34713	0.118:0.0:0.882:0.0	.	112	Q9P2J8	ZN624_HUMAN	S	112	ENSP00000310472:P112S	ENSP00000310472:P112S	P	-	1	0	ZNF624	16477943	0.999000	0.42202	1.000000	0.80357	0.914000	0.54420	3.196000	0.51020	2.046000	0.60703	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	1	0	0	19	176	0	58	0	1.935264e-01	0	8	0	58	2		0	0	0	0	0	2	1	9.999919e-01	18	174	0	58	2								-8.953459	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.740000	1.000000	1.000000	0.972726	0.990000	1	9.400000e-01	1
SERPINF2	5345	broad.mit.edu	37	17	1657648	1657648	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1657648C>T	ENST00000324015.3	+	10	1373	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	SERPINF2_ENST00000382061.4_Silent_p.S432S|SERPINF2_ENST00000450523.2_Silent_p.S368S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2			12				Ocriplasmin(DB08888)	TCGTGGGCAGCGTGAGGAACC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000324015.3	1	1	hg19	CCDS11011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	1	0	1	130	627	0	145	1	9.733326e-01	5	25	0	145	2		0	0	0	0	0	2	1	1	126	620	0	142	2								-20.000000	1	1	121412	5	39	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFRSF13B	23495	broad.mit.edu	37	17	16843683	16843683	+	Missense_Mutation	SNP	C	C	A	rs56248318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16843683C>A	ENST00000261652.2	-	4	600	c.588G>T	c.(586-588)caG>caT	p.Q196H	TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B			16					TTGAGCGGGGCTGGCAGGAGC	0.647000									IgA Deficiency, Selective															0							SO:0001583	missense	Familial Cancer Database	IGAD1, IGAD2	ENST00000261652.2	1	1	hg19	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	c	9.113	1.007064	0.19199	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.94092	-3.35;-3.33	3.43	3.43	0.39272	.	0.131984	0.34531	N	0.003899	D	0.94584	0.8255	M	0.66939	2.045	0.30740	N	0.746256	D;D	0.71674	0.998;0.997	P;P	0.61477	0.889;0.778	D	0.91783	0.5437	10	0.40728	T	0.16	-6.7321	10.6958	0.45899	0.0:1.0:0.0:0.0	rs56248318	150;196	O14836-2;O14836	.;TR13B_HUMAN	H	150;196	ENSP00000413453:Q150H;ENSP00000261652:Q196H	ENSP00000261652:Q196H	Q	-	3	2	TNFRSF13B	16784408	0.931000	0.31567	0.330000	0.25442	0.016000	0.09150	1.717000	0.37991	1.628000	0.50416	0.558000	0.71614	CAG		TCGA-IB-7651-01A-11D-2154-08	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2	1	0	1	100	495	0	84	0	1.360242e-01	0	4	0	84	2		0	0	0	0	0	2	1	1	99	487	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMYD4	114826	broad.mit.edu	37	17	1686706	1686706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1686706G>A	ENST00000305513.7	-	9	2252	c.2085C>T	c.(2083-2085)caC>caT	p.H695H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4			21					CCACCACGGCGTGCTCTGCCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000305513.7	1	1	hg19	CCDS11013.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	1	0	1	37	150	0	29	1	9.527753e-01	3	20	0	29	2		0	0	0	0	0	2	1	1	37	148	0	29	2								-20.000000	1	1	121404	3	30	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLCN	201163	broad.mit.edu	37	17	17122372	17122372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17122372C>T	ENST00000285071.4	-	9	1477	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin			23					CTGGCAGCTTCCGGGGCTGCC	0.652000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	ENST00000285071.4	1	1	hg19	CCDS32579.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	1	0	0	150	521	0	99	1	1	7	91	0	99	2		0	0	0	0	0	2	1	1	143	514	1	98	22								-4.284916	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLCN	201163	broad.mit.edu	37	17	17124912	17124912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17124912G>A	ENST00000285071.4	-	8	1264	c.810C>T	c.(808-810)acC>acT	p.T270T	FLCN_ENST00000389169.5_Silent_p.T270T|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin			23					GGAGCTTCTCGGTCAGCCGGC	0.622000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	ENST00000285071.4	1	1	hg19	CCDS32579.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	1	0	1	55	225	0	49	1	9.999996e-01	20	73	0	49	2		0	0	0	0	0	2	1	1	54	221	0	49	2								-3.589889	1	1	121398	2	34	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLCN	201163	broad.mit.edu	37	17	17131402	17131402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17131402C>T	ENST00000285071.4	-	4	504	c.50G>A	c.(49-51)cGc>cAc	p.R17H	FLCN_ENST00000389169.5_Missense_Mutation_p.R17H|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin			23					GAAGAGAGTGCGGGGGCCGTG	0.622000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome															0							SO:0001583	missense	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	ENST00000285071.4	1	1	hg19	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426711	0.62733	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.93547	-3.24;-3.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.977;0.996;0.899	D	0.95876	0.8895	10	0.66056	D	0.02	-12.8119	18.4682	0.90763	0.0:1.0:0.0:0.0	.	17;17;17	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	H	17	ENSP00000285071:R17H;ENSP00000373821:R17H	ENSP00000285071:R17H	R	-	2	0	FLCN	17072127	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.606000	0.88127	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	1	0	1	46	193	0	46	1	9.999913e-01	23	54	0	46	2		0	0	0	0	0	2	1	1	46	192	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NT5M	56953	broad.mit.edu	37	17	17250251	17250251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17250251G>A	ENST00000389022.4	+	5	893	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial			4					GACAGCAAGCGGCCCTGCTGA	0.682000																								0							SO:0001583	missense			ENST00000389022.4	1	1	hg19	CCDS32581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.030203|5.030203	0.93575|0.93575	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000446264|ENST00000389022	.|T	.|0.46451	.|0.87	5.79|5.79	5.79|5.79	0.91817|0.91817	.|HAD-like domain (2);	0.238680|.	0.46758|.	D|.	0.000264|.	T|T	0.66479|0.66479	0.2793|0.2793	M|M	0.75447|0.75447	2.3|2.3	0.30268|0.30268	N|N	0.792551|0.792551	D|D;D	0.76494|0.89917	0.999|1.0;1.0	P|D;D	0.59115|0.97110	0.852|0.99;1.0	T|T	0.66968|0.66968	-0.5789|-0.5789	9|9	0.87932|0.87932	D|D	0|0	-6.3164|-6.3164	16.7638|16.7638	0.85519|0.85519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	225|232;226	F6S3X3|Q2I378;Q9NPB1	.|.;NT5M_HUMAN	S|Q	225|226	.|ENSP00000373674:R226Q	ENSP00000390695:G225S|ENSP00000373674:R226Q	G|R	+|+	1|2	0|0	NT5M|NT5M	17190976|17190976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.604000|0.604000	0.37047|0.37047	8.364000|8.364000	0.90105|0.90105	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GGC|CGG		TCGA-IB-7651-01A-11D-2154-08	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1	1	0	1	43	243	0	46	1	6.070656e-01	3	10	0	46	2		0	0	0	0	0	2	1	1	43	237	0	46	2								-20.000000	1	1	121404	4	37	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
MED9	55090	broad.mit.edu	37	17	17380439	17380439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17380439G>A	ENST00000268711.3	+	1	140	c.84G>A	c.(82-84)aaG>aaA	p.K28K	MED9_ENST00000580462.1_Silent_p.K28K|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9			7					ctgacaccaagccgctgccgc	0.721000																								0							SO:0001819	synonymous_variant			ENST00000268711.3	1	1	hg19	CCDS11184.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	1	0	0	36	108	0	26	1	5.592573e-01	2	5	0	26	2		0	0	0	0	0	2	1	1	35	91	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASD1	51655	broad.mit.edu	37	17	17399311	17399311	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17399311C>T	ENST00000225688.3	-	1	396	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RASD1_ENST00000579152.1_Missense_Mutation_p.R62H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1			4					GTAGAACTTGCGGTGGAAGTC	0.647000																								0							SO:0001583	missense			ENST00000225688.3	1	1	hg19	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598634	0.66332	.	.	ENSG00000108551	ENST00000225688	T	0.80033	-1.33	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90983	0.4829	10	0.56958	D	0.05	.	16.8723	0.86043	0.0:1.0:0.0:0.0	.	62	Q9Y272	RASD1_HUMAN	H	62	ENSP00000225688:R62H	ENSP00000225688:R62H	R	-	2	0	RASD1	17340036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.539000	0.82063	2.199000	0.70637	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	0	0	0	18	433	0	79	0	9.378778e-01	1	114	0	79	2		0	0	0	0	0	2	1	9.999767e-01	18	418	0	78	2								-3.048339	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.490000	0.290000	1.000000	0.470000	0.546591	0.490000	0	3.800000e-01	6.700000e-01
RAI1	10743	broad.mit.edu	37	17	17696546	17696546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17696546C>T	ENST00000353383.1	+	3	753	c.284C>T	c.(283-285)cCg>cTg	p.P95L	RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1			48					CAGGGGAGGCCGGCTTTCCCT	0.711000																								0							SO:0001583	missense			ENST00000353383.1	1	1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034783	0.19590	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.70045	-0.45;2.27;0.12	4.55	4.55	0.56014	.	0.292981	0.29602	N	0.011692	T	0.57562	0.2062	M	0.63843	1.955	0.41446	D	0.987957	P	0.39404	0.672	B	0.28553	0.091	T	0.66188	-0.5986	10	0.87932	D	0	.	10.6015	0.45369	0.0:0.9094:0.0:0.0906	.	95	Q7Z5J4	RAI1_HUMAN	L	95	ENSP00000323074:P95L;ENSP00000379120:P95L;ENSP00000261641:P95L	ENSP00000261641:P95L	P	+	2	0	RAI1	17637271	0.826000	0.29277	0.977000	0.42913	0.329000	0.28539	1.841000	0.39240	2.074000	0.62210	0.462000	0.41574	CCG		TCGA-IB-7651-01A-11D-2154-08	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1	25	132	0	24	1	8.459029e-01	6	14	0	24	2		0	0	0	0	0	2	1	9.999999e-01	25	132	0	24	2								-20.000000	1	1	121164	14	38	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999924	0.990000	1	9.900000e-01	1
RAI1	10743	broad.mit.edu	37	17	17699003	17699003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17699003G>A	ENST00000353383.1	+	3	3210	c.2741G>A	c.(2740-2742)tGg>tAg	p.W914*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1			48					AAGGCCGGCTGGGGCTCTCCG	0.647000																								0							SO:0001587	stop_gained			ENST00000353383.1	0	1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.888434	0.98545	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	.	.	.	4.77	4.77	0.60923	.	0.381141	0.25132	N	0.032885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.0033	0.53243	0.0:0.2341:0.7659:0.0	.	.	.	.	X	914;914;914;914;914;866	.	ENSP00000261641:W914X	W	+	2	0	RAI1	17639728	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.711000	0.54868	2.222000	0.72286	0.313000	0.20887	TGG		TCGA-IB-7651-01A-11D-2154-08	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1	42	179	0	36	1	9.999864e-01	15	61	0	36	2		0	0	0	0	0	2	1	1	42	173	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAI1	10743	broad.mit.edu	37	17	17700276	17700276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700276G>A	ENST00000353383.1	+	3	4483	c.4014G>A	c.(4012-4014)tcG>tcA	p.S1338S	RAI1_ENST00000261641.6_Silent_p.S1338S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1			48					AGATCACCTCGCCCAGCCTCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000353383.1	1	1	hg19	CCDS11188.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1	162	624	0	137	1	9.999995e-01	8	71	0	137	2		0	0	0	0	0	2	1	1	161	616	1	135	19								-20.000000	1	1	121412	2	34	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAI1	10743	broad.mit.edu	37	17	17700424	17700424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700424G>A	ENST00000353383.1	+	3	4631	c.4162G>A	c.(4162-4164)Ggg>Agg	p.G1388R	RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1			48					TGTGGGCACCGGGCAGAAGCT	0.532000																								0							SO:0001583	missense			ENST00000353383.1	1	1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459148	0.43634	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69040	-0.37;0.2	5.09	4.12	0.48240	.	0.395398	0.23748	N	0.044943	T	0.61726	0.2370	L	0.51422	1.61	0.34082	D	0.659737	D	0.60160	0.987	P	0.45377	0.478	T	0.73404	-0.3993	10	0.66056	D	0.02	.	9.2067	0.37293	0.077:0.0:0.7775:0.1455	.	1388	Q7Z5J4	RAI1_HUMAN	R	1388;1388;1388;1340	ENSP00000323074:G1388R;ENSP00000261641:G1388R	ENSP00000261641:G1388R	G	+	1	0	RAI1	17641149	0.998000	0.40836	0.946000	0.38457	0.577000	0.36160	3.398000	0.52579	1.130000	0.42092	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1	92	507	0	100	1	9.999760e-01	13	72	0	100	2		0	0	0	0	0	2	1	1	92	501	0	100	2								-2.474543	0	1	121412	1	32	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAI1	10743	broad.mit.edu	37	17	17701060	17701060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17701060C>T	ENST00000353383.1	+	3	5267	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1			48					ACCCTTCGTGCGGGTGGAGAA	0.617000																								0							SO:0001583	missense			ENST00000353383.1	1	1	hg19	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395284	0.62066	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.70164	-0.46	4.56	4.56	0.56223	.	0.198489	0.35615	N	0.003089	T	0.76328	0.3972	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.79200	-0.1901	10	0.72032	D	0.01	.	17.1098	0.86672	0.0:1.0:0.0:0.0	.	1600	Q7Z5J4	RAI1_HUMAN	W	1600;1600;1488	ENSP00000323074:R1600W	ENSP00000322928:R1488W	R	+	1	2	RAI1	17641785	0.997000	0.39634	1.000000	0.80357	0.754000	0.42855	3.915000	0.56409	2.387000	0.81309	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	1	0	1	140	731	0	147	1	9.999922e-01	14	73	0	147	2		0	0	0	0	0	2	1	1	136	713	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SREBF1	6720	broad.mit.edu	37	17	17722393	17722393	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17722393G>A	ENST00000261646.5	-	5	1186	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	SREBF1_ENST00000435530.2_Silent_p.R334R|SREBF1_ENST00000338854.5_Silent_p.R334R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000355815.4_Silent_p.R364R|SREBF1_ENST00000395757.1_Silent_p.R80R	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1			14					AGGAGCGGTAGCGCTTCTCAA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000261646.5	0	1	hg19	CCDS11189.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	0	0	0	11	443	0	81	1	9.537881e-01	9	205	0	81	2		0	0	0	0	0	2	1	9.981822e-01	11	434	0	80	2								-10.112190	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.300000	0.150000	1.000000	0.280000	0.381797	0.300000	0	2.200000e-01	4.600000e-01
SREBF1	6720	broad.mit.edu	37	17	17723477	17723477	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17723477T>G	ENST00000261646.5	-	2	634	c.450A>C	c.(448-450)ccA>ccC	p.P150P	SREBF1_ENST00000435530.2_Silent_p.P150P|SREBF1_ENST00000338854.5_Silent_p.P150P|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000355815.4_Silent_p.P180P|SREBF1_ENST00000395757.1_5'Flank	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1			14					GGGCTGGGGCTGGGAAGCTCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000261646.5	0	1	hg19	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	T	8.920	0.960746	0.18583	.	.	ENSG00000072310	ENST00000395751	.	.	.	4.58	-9.16	0.00694	.	.	.	.	.	T	0.16171	0.0389	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.12785	-1.0534	4	.	.	.	-0.7168	2.8146	0.05452	0.248:0.381:0.25:0.121	.	.	.	.	R	158	.	.	S	-	1	0	SREBF1	17664202	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-1.339000	0.02652	-2.550000	0.00480	0.454000	0.30748	AGC		TCGA-IB-7651-01A-11D-2154-08	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	0	0	0	5	208	0	48	1	9.585093e-01	8	238	0	48	2		0	0	0	0	0	2	1	9.326490e-01	5	201	0	45	2								-7.103536	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.320000	0.110000	1.000000	0.280000	0.395198	0.320000	0	2.000000e-01	5.400000e-01
TOM1L2	146691	broad.mit.edu	37	17	17764838	17764838	+	Silent	SNP	G	G	A	rs117929409	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17764838G>A	ENST00000379504.3	-	12	1313	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000542206.1_Silent_p.V262V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000478943.1_Silent_p.V143V|TOM1L2_ENST00000535933.1_Silent_p.V357V|TOM1L2_ENST00000581396.1_Silent_p.V360V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)			10	all_neural(463;0.228)				CAAGTCCTCCGACAGCCTGAG	0.507000													Melanoma(192;2505 2909 14455 25269)											0							SO:0001819	synonymous_variant			ENST00000379504.3	1	1	hg19	CCDS42270.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1	1	0	0	20	218	0	53	1	9.174585e-01	4	45	0	53	2		0	0	0	0	0	2	1	9.999957e-01	20	215	0	53	2								-3.221884	1	1	121412	1	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.640000	1.000000	1.000000	0.933944	0.990000	1	8.100000e-01	1
TOM1L2	146691	broad.mit.edu	37	17	17766150	17766150	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17766150T>A	ENST00000379504.3	-	11	1180	c.1097A>T	c.(1096-1098)gAg>gTg	p.E366V	TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V|TOM1L2_ENST00000581396.1_Missense_Mutation_p.E316V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)			10	all_neural(463;0.228)				ACTGACGCTCTCTGTCCCCAA	0.537000													Melanoma(192;2505 2909 14455 25269)											0							SO:0001583	missense			ENST00000379504.3	1	1	hg19	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453805	0.63290	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.47869	1.85;1.84;1.83;1.82;0.83	5.88	5.88	0.94601	.	0.480039	0.25726	N	0.028717	T	0.46870	0.1415	N	0.14661	0.345	0.45528	D	0.998487	B;P;P;P;P;P	0.52170	0.052;0.951;0.774;0.497;0.712;0.883	B;P;B;B;B;B	0.55871	0.057;0.786;0.265;0.162;0.247;0.33	T	0.44498	-0.9324	10	0.33141	T	0.24	-10.1202	16.2879	0.82732	0.0:0.0:0.0:1.0	.	268;218;313;321;366;316	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	V	366;316;321;313;268;218	ENSP00000368818:E366V;ENSP00000379088:E321V;ENSP00000438621:E313V;ENSP00000437655:E268V;ENSP00000445188:E218V	ENSP00000312860:E316V	E	-	2	0	TOM1L2	17706875	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.866000	0.87056	2.242000	0.73789	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1	0	0	0	13	508	0	112	0	2.416382e-01	1	34	0	112	2		0	0	0	0	0	2	1	9.994797e-01	13	498	0	111	2								-3.121230	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.310000	0.170000	1.000000	0.290000	0.386942	0.310000	0	2.300000e-01	4.500000e-01
RPA1	6117	broad.mit.edu	37	17	1780550	1780550	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1780550C>T	ENST00000254719.5	+	8	742	c.632C>T	c.(631-633)aCc>aTc	p.T211I	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa			10					CAGATCCGTACCTGGAGCAAC	0.493000								Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000254719.5	1	1	hg19	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994189	0.93167	.	.	ENSG00000132383	ENST00000254719	T	0.51325	0.71	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81856	-0.0740	10	0.54805	T	0.06	-25.4334	20.4366	0.99092	0.0:1.0:0.0:0.0	.	211	P27694	RFA1_HUMAN	I	211	ENSP00000254719:T211I	ENSP00000254719:T211I	T	+	2	0	RPA1	1727300	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.456000	0.80751	2.837000	0.97791	0.591000	0.81541	ACC		TCGA-IB-7651-01A-11D-2154-08	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	1	0	1	40	188	0	36	1	1	62	177	0	36	2		0	0	0	0	0	2	1	1	40	186	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC48	83450	broad.mit.edu	37	17	17907797	17907797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17907797G>A	ENST00000399187.1	+	10	1338	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K|LRRC48_ENST00000313838.8_Missense_Mutation_p.E374K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48			7	all_neural(463;0.228)				GCAGCTGGTGGAGCAGCTGGA	0.552000																								0							SO:0001583	missense			ENST00000399187.1	0	1	hg19	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311348	0.95655	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.26	5.26	0.73747	.	0.270549	0.41605	N	0.000849	T	0.52256	0.1723	M	0.76838	2.35	0.80722	D	1	P;P	0.45283	0.773;0.855	B;B	0.41510	0.127;0.359	T	0.54596	-0.8270	10	0.23891	T	0.37	-29.2984	17.6257	0.88093	0.0:0.0:1.0:0.0	.	374;374	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	374	ENSP00000326870:E374K;ENSP00000394020:E374K;ENSP00000382140:E374K;ENSP00000382136:E374K	ENSP00000326870:E374K	E	+	1	0	LRRC48	17848522	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.917000	0.63369	2.432000	0.82394	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	1	0	1	12	63	0	18	0	6.082152e-01	1	11	0	18	2		0	0	0	0	0	2	1	9.992059e-01	11	61	0	18	2								-19.976180	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.997905	0.990000	1	9.900000e-01	1
DRG2	1819	broad.mit.edu	37	17	18002358	18002358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18002358G>A	ENST00000225729.3	+	4	481	c.343G>A	c.(343-345)Gac>Aac	p.D115N	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.D115N	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2			14	all_neural(463;0.228)				CCAGCTCCTGGACCTTCCTGG	0.547000																								0							SO:0001583	missense			ENST00000225729.3	1	1	hg19	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647216	0.67358	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.73047	-0.71;-0.71	5.05	5.05	0.67936	GTP1/OBG, conserved site (1);Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	H	0.99961	5.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96686	0.9507	10	0.87932	D	0	-18.123	18.4054	0.90533	0.0:0.0:1.0:0.0	.	115;115;115	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	N	115	ENSP00000379076:D115N;ENSP00000225729:D115N	ENSP00000225729:D115N	D	+	1	0	DRG2	17943083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.713000	0.98740	2.344000	0.79699	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	1	0	1	65	376	0	68	1	9.999928e-01	25	76	0	68	2		0	0	0	0	0	2	1	1	62	369	0	68	2								-3.143776	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DRG2	1819	broad.mit.edu	37	17	18007126	18007126	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18007126A>C	ENST00000225729.3	+	10	956	c.818A>C	c.(817-819)aAg>aCg	p.K273T	DRG2_ENST00000583355.1_Missense_Mutation_p.E79D|DRG2_ENST00000395726.4_Missense_Mutation_p.K273T	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2			14	all_neural(463;0.228)				TGCGGCATGAAGCTGAACCTG	0.572000																								0							SO:0001583	missense			ENST00000225729.3	1	1	hg19	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546066	0.65198	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.18657	2.2;2.2	5.33	5.33	0.75918	.	0.129729	0.64402	D	0.000002	T	0.30386	0.0763	M	0.86028	2.79	0.30455	N	0.77487	B;B	0.29862	0.259;0.072	B;B	0.24701	0.055;0.034	T	0.31447	-0.9943	10	0.36615	T	0.2	-19.2294	15.2684	0.73681	1.0:0.0:0.0:0.0	.	273;273	A8MZF9;P55039	.;DRG2_HUMAN	T	273	ENSP00000379076:K273T;ENSP00000225729:K273T	ENSP00000225729:K273T	K	+	2	0	DRG2	17947851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.840000	0.92125	2.003000	0.58678	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	1	0	1	92	464	0	104	1	1	43	118	0	104	2		0	0	0	0	0	2	1	1	90	453	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18022454	18022454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18022454C>A	ENST00000205890.5	+	2	678	c.340C>A	c.(340-342)Cgc>Agc	p.R114S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				CTTCCCAGGCCGCCGTGGCTA	0.617000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710691	0.30322	.	.	ENSG00000091536	ENST00000205890	D	0.89552	-2.53	4.92	2.65	0.31530	.	.	.	.	.	T	0.79106	0.4390	N	0.24115	0.695	0.09310	N	0.999999	P	0.44690	0.841	B	0.35278	0.199	T	0.69316	-0.5177	9	0.54805	T	0.06	.	10.4112	0.44294	0.2702:0.6111:0.1186:0.0	.	114	Q9UKN7	MYO15_HUMAN	S	114	ENSP00000205890:R114S	ENSP00000205890:R114S	R	+	1	0	MYO15A	17963179	0.014000	0.17966	0.019000	0.16419	0.119000	0.20118	0.115000	0.15540	1.040000	0.40099	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	0	34	142	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	34	139	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18024987	18024987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18024987C>T	ENST00000205890.5	+	2	3211	c.2873C>T	c.(2872-2874)cCt>cTt	p.P958L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				AGGCCACCCCCTGTGCCGGAA	0.682000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	8.837	0.941276	0.18281	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	4.49	2.44	0.29823	.	.	.	.	.	T	0.78175	0.4242	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.66952	-0.5793	9	0.72032	D	0.01	.	5.4677	0.16652	0.1973:0.6959:0.0:0.1068	.	958	Q9UKN7	MYO15_HUMAN	L	958	ENSP00000205890:P958L	ENSP00000205890:P958L	P	+	2	0	MYO15A	17965712	0.001000	0.12720	0.007000	0.13788	0.257000	0.26127	1.014000	0.29950	0.324000	0.23333	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	0	21	118	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999976e-01	19	113	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999640	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18025224	18025224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025224A>G	ENST00000205890.5	+	2	3448	c.3110A>G	c.(3109-3111)gAt>gGt	p.D1037G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				CCTCCCAAGGATGTCACTCCC	0.612000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	5.810	0.333662	0.11013	.	.	ENSG00000091536	ENST00000205890	D	0.87334	-2.24	0.717	-1.43	0.08884	.	.	.	.	.	T	0.66336	0.2779	N	0.08118	0	0.09310	N	1	B	0.28850	0.225	B	0.15870	0.014	T	0.55418	-0.8144	9	0.32370	T	0.25	.	2.8426	0.05534	0.5027:0.4973:0.0:0.0	.	1037	Q9UKN7	MYO15_HUMAN	G	1037	ENSP00000205890:D1037G	ENSP00000205890:D1037G	D	+	2	0	MYO15A	17965949	0.008000	0.16893	0.066000	0.19879	0.076000	0.17211	0.332000	0.19751	0.077000	0.16863	0.076000	0.15429	GAT		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	160	537	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	159	514	0	157	2								-20.000000	1	0	120910	1	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025324G>T	ENST00000205890.5	+	2	3548	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				CGTGTGACCAGACCAGGGCCA	0.647000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	9.487	1.099688	0.20552	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.08	1.67	0.24075	.	.	.	.	.	T	0.74253	0.3692	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.31751	0.135	T	0.63651	-0.6589	9	0.37606	T	0.19	.	4.9784	0.14153	0.1983:0.1751:0.6266:0.0	.	1070	Q9UKN7	MYO15_HUMAN	H	1070	ENSP00000205890:Q1070H	ENSP00000205890:Q1070H	Q	+	3	2	MYO15A	17966049	0.012000	0.17670	0.006000	0.13384	0.156000	0.22039	0.746000	0.26275	1.114000	0.41781	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	114	781	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1	112	767	0	176	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18025661	18025661	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025661G>T	ENST00000205890.5	+	2	3885	c.3547G>T	c.(3547-3549)Gct>Tct	p.A1183S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				GGGCCCTGGAGCTGCCTGCCT	0.637000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.173760	0.38413	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	5.22	2.93	0.34026	.	.	.	.	.	T	0.79505	0.4457	L	0.38175	1.15	0.18873	N	0.999984	B	0.20261	0.043	B	0.16722	0.016	T	0.66488	-0.5911	9	0.36615	T	0.2	.	7.1014	0.25340	0.2546:0.0:0.7454:0.0	.	1183	Q9UKN7	MYO15_HUMAN	S	1183	ENSP00000205890:A1183S	ENSP00000205890:A1183S	A	+	1	0	MYO15A	17966386	0.002000	0.14202	0.006000	0.13384	0.214000	0.24535	0.483000	0.22292	0.949000	0.37715	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	59	315	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	56	303	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18029702	18029702	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18029702A>C	ENST00000205890.5	+	5	4136	c.3798A>C	c.(3796-3798)caA>caC	p.Q1266H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				ACCCATACCAAATGTTTGGAA	0.617000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078142	0.36662	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	4.76	-4.7	0.03288	Myosin head, motor domain (3);	.	.	.	.	T	0.80502	0.4635	L	0.52573	1.65	0.45979	D	0.998799	P	0.42941	0.794	B	0.42163	0.378	T	0.72880	-0.4158	9	0.66056	D	0.02	.	5.9835	0.19421	0.3199:0.1036:0.4753:0.1012	.	1266	Q9UKN7	MYO15_HUMAN	H	1266	ENSP00000205890:Q1266H	ENSP00000205890:Q1266H	Q	+	3	2	MYO15A	17970427	0.032000	0.19561	0.522000	0.27862	0.602000	0.36980	-0.287000	0.08388	-1.279000	0.02405	-1.288000	0.01363	CAA		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	43	241	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	42	240	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18030104	18030104	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18030104G>T	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				TGTCTCCCCAGGCACCTCTTT	0.552000																								0							SO:0001630	splice_region_variant			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459850	0.84317	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3189	0.90231	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO15A	17970829	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	9.807000	0.99171	2.321000	0.78463	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	0	0	0	30	757	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	1	29	740	0	144	2								-3.902813	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.460000	0.310000	1.000000	0.450000	0.520432	0.460000	0	3.800000e-01	6.000000e-01
MYO15A	51168	broad.mit.edu	37	17	18041528	18041528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18041528C>T	ENST00000205890.5	+	17	5313	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				TGGCATCCTGCGGATCCTTGA	0.557000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688329	0.48097	.	.	ENSG00000091536	ENST00000205890	D	0.95205	-3.64	5.64	3.43	0.39272	Myosin head, motor domain (3);	.	.	.	.	D	0.96494	0.8856	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96458	0.9339	9	0.72032	D	0.01	.	11.8686	0.52507	0.2227:0.6798:0.0976:0.0	.	1659	Q9UKN7	MYO15_HUMAN	W	1659	ENSP00000205890:R1659W	ENSP00000205890:R1659W	R	+	1	2	MYO15A	17982253	0.994000	0.37717	1.000000	0.80357	0.645000	0.38454	1.591000	0.36665	1.358000	0.45922	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	0	57	240	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	57	238	0	64	2								-3.433429	1	1	121358	1	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18044339	18044339	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18044339G>T	ENST00000205890.5	+	22	5751	c.5413G>T	c.(5413-5415)Ggt>Tgt	p.G1805C	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				ACAGGAGCCAGGTCTCTTTGA	0.542000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165221	0.21538	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.78	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.92928	0.7750	M	0.86953	2.85	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	D	0.92453	0.5971	9	0.48119	T	0.1	.	13.9293	0.63983	0.1321:0.0:0.8679:0.0	.	1805	Q9UKN7	MYO15_HUMAN	C	1805	ENSP00000205890:G1805C	ENSP00000205890:G1805C	G	+	1	0	MYO15A	17985064	1.000000	0.71417	0.808000	0.32385	0.121000	0.20230	3.994000	0.56994	0.803000	0.34113	-1.134000	0.01955	GGT		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	36	160	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	36	157	0	54	2								-3.381410	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18051507	18051507	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18051507A>G	ENST00000205890.5	+	31	7012	c.6674A>G	c.(6673-6675)gAc>gGc	p.D2225G	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				ATGGCGCTGGACGTGGGCTGC	0.672000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276792	0.59758	.	.	ENSG00000091536	ENST00000205890	D	0.88431	-2.38	4.1	4.1	0.47936	.	.	.	.	.	D	0.91338	0.7268	M	0.66939	2.045	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	D	0.90939	0.4796	9	0.42905	T	0.14	.	12.9351	0.58309	1.0:0.0:0.0:0.0	.	2225	Q9UKN7	MYO15_HUMAN	G	2225	ENSP00000205890:D2225G	ENSP00000205890:D2225G	D	+	2	0	MYO15A	17992232	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	5.611000	0.67674	1.733000	0.51620	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	40	236	0	49		0	0	0	0	49	2		0	0	0	0	1	2	1	1	41	232	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18054176	18054176	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054176G>A	ENST00000205890.5	+	38	7760	c.7422G>A	c.(7420-7422)acG>acA	p.T2474T	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				TGCAGGCCACGGCACTCCAGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000205890.5	0	1	hg19	CCDS42271.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	7	57	0	12	0	0	1	0	0	12	2		0	0	0	0	0	2	1	9.816421e-01	7	56	0	12	2								-13.235710	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.610000	1.000000	1.000000	0.959556	0.990000	1	9.200000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18054484	18054484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054484G>A	ENST00000205890.5	+	39	7872	c.7534G>A	c.(7534-7536)Gtg>Atg	p.V2512M	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				TGCCAAACCCGTGCTCCTGCG	0.647000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685918	0.29962	0.0	2.4E-4	ENSG00000091536	ENST00000205890	D	0.88277	-2.36	5.25	5.25	0.73442	.	.	.	.	.	D	0.90645	0.7066	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.90169	0.4234	9	0.54805	T	0.06	.	10.1994	0.43073	0.0917:0.0:0.9083:0.0	.	2512	Q9UKN7	MYO15_HUMAN	M	2512	ENSP00000205890:V2512M	ENSP00000205890:V2512M	V	+	1	0	MYO15A	17995209	1.000000	0.71417	0.958000	0.39756	0.201000	0.24016	4.002000	0.57053	2.608000	0.88229	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	0	50	1068	0	207	0	2.112272e-03	0	2	0	207	2		0	0	0	0	0	2	1	1	51	1049	0	202	2								-5.387335	1	1	120948	10	45	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.540000	0.400000	1.000000	0.530000	0.587424	0.540000	0	4.600000e-01	6.600000e-01
MYO15A	51168	broad.mit.edu	37	17	18062626	18062626	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18062626G>T	ENST00000205890.5	+	54	9532	c.9194G>T	c.(9193-9195)aGc>aTc	p.S3065I	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.S329I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				CTCAGCGACAGCAGCCTCAGC	0.587000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068420	0.20067	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535	D;D	0.94966	-2.38;-3.57	4.94	1.56	0.23342	MyTH4 domain (2);	.	.	.	.	D	0.90229	0.6945	L	0.48642	1.525	0.80722	D	1	P;B;B	0.40000	0.698;0.429;0.437	B;B;B	0.37047	0.205;0.24;0.091	D	0.84921	0.0854	9	0.42905	T	0.14	.	9.9795	0.41804	0.1341:0.2133:0.6525:0.0	.	54;329;3065	B4DLV9;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	I	3065;54;19	ENSP00000205890:S3065I;ENSP00000451782:S19I	ENSP00000205890:S3065I	S	+	2	0	MYO15A	18003351	0.996000	0.38824	0.999000	0.59377	0.763000	0.43281	1.147000	0.31602	0.132000	0.18615	-1.598000	0.00824	AGC		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	40	206	0	71	1	4.506816e-01	3	6	0	71	2		0	0	0	0	0	2	1	1	40	200	0	69	2								-3.353034	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18065967	18065967	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18065967A>G	ENST00000205890.5	+	58	9924	c.9586A>G	c.(9586-9588)Agc>Ggc	p.S3196G	MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000418233.3_Missense_Mutation_p.S460G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				GGAGCTCCCCAGCAGCATAGA	0.597000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710290	0.48517	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.92752	-3.1;-3.1;-3.1	4.94	3.86	0.44501	MyTH4 domain (3);	.	.	.	.	D	0.92675	0.7672	M	0.89715	3.055	0.44024	D	0.996748	B;B;B;B;B;B	0.26602	0.062;0.067;0.014;0.046;0.083;0.154	B;B;B;B;B;B	0.31016	0.123;0.058;0.021;0.028;0.036;0.066	D	0.89101	0.3489	9	0.36615	T	0.2	.	10.4867	0.44726	0.9226:0.0:0.0774:0.0	.	88;185;460;3196;118;203	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	G	3196;185;150;88;88	ENSP00000205890:S3196G;ENSP00000451782:S150G;ENSP00000409098:S88G	ENSP00000205890:S3196G	S	+	1	0	MYO15A	18006692	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.939000	0.70179	0.732000	0.32470	0.374000	0.22700	AGC		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	0	12	202	0	40	0	2.121867e-02	0	4	0	40	2		0	0	0	0	0	2	1	9.989876e-01	11	195	0	40	2								-15.253490	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.700000	0.380000	1.000000	1.000000	0.725447	0.700000	0	5.200000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				GCTCTGGTTCCGGCGTGTGCT	0.577000																								0							SO:0001583	missense			ENST00000205890.5	1	1	hg19	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493420	0.44352	2.36E-4	0.0	ENSG00000091536	ENST00000205890;ENST00000418233	D	0.89617	-2.54	5.48	5.48	0.80851	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.94215	0.8143	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.999;0.876;0.999;0.991	D	0.94418	0.7638	9	0.62326	D	0.03	.	14.21	0.65759	0.1494:0.8506:0.0:0.0	.	283;558;3294;301	B4DLV9;B4DFC7;Q9UKN7;Q8TCK0	.;.;MYO15_HUMAN;.	W	3294;283	ENSP00000205890:R3294W	ENSP00000205890:R3294W	R	+	1	2	MYO15A	18010492	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.548000	0.53670	2.564000	0.86499	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	100	523	0	140	0	0	0	1	0	140	2		0	0	0	0	0	2	1	1	98	516	0	140	2								-2.581240	1	1	121070	2	34	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO15A	51168	broad.mit.edu	37	17	18075471	18075471	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18075471G>A	ENST00000205890.5	+	64	10555	c.10217G>A	c.(10216-10218)gGc>gAc	p.G3406D	MYO15A_ENST00000451725.2_Splice_Site_p.A200T|MYO15A_ENST00000418233.3_Splice_Site_p.G670D|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA			99	all_neural(463;0.228)				CCCTGCCCAGGCCTCCTCAGC	0.597000																								0							SO:0001630	splice_region_variant			ENST00000205890.5	1	0	hg19	CCDS42271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.863609|2.863609	0.51482|0.51482	.|.	.|.	ENSG00000091536|ENSG00000091536	ENST00000451725|ENST00000205890;ENST00000418233;ENST00000445289	D|T	0.98105|0.77098	-4.72|-1.07	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.|.	.|.	.|.	.|.	D|D	0.85305|0.85305	0.5666|0.5666	L|L	0.48174|0.48174	1.505|1.505	0.50171|0.50171	D|D	0.999855|0.999855	B|D;D;P;D	0.32245|0.89917	0.361|1.0;1.0;0.952;1.0	B|D;D;P;D	0.32864|0.97110	0.154|0.995;0.995;0.876;1.0	T|T	0.82983|0.82983	-0.0186|-0.0186	8|8	.|.	.|.	.|.	.|.	19.6732|19.6732	0.95918|0.95918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200|395;101;670;3406	B4DQJ3|B4DLV9;B4DMU9;B4DFC7;Q9UKN7	.|.;.;.;MYO15_HUMAN	T|D	200|3406;395;101	ENSP00000409098:A200T|ENSP00000205890:G3406D	.|.	A|G	+|+	1|2	0|0	MYO15A|MYO15A	18016196|18016196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.153000|0.153000	0.21895|0.21895	9.647000|9.647000	0.98478|0.98478	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	GCC|GGC		TCGA-IB-7651-01A-11D-2154-08	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	1	0	1	73	313	0	62	0	3.658295e-02	1	1	0	62	2		0	0	0	0	0	2	1	1	68	304	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase			10	all_neural(463;0.228)				CGGTCCCACCGCAAGGCAGAC	0.587000													Ovarian(166;154 1953 40235 46283 46309)											0							SO:0001583	missense			ENST00000399138.4	1	1	hg19	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320389	0.95682	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.68265	-0.5454	9	0.72032	D	0.01	-20.6427	19.5182	0.95174	0.0:0.0:1.0:0.0	.	327	Q6P6C2-2	.	H	327;316;327	.	ENSP00000261650:R327H	R	+	2	0	ALKBH5	18050982	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.172000	0.89677	2.618000	0.88619	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	1	0	1	201	990	0	249	1	1	78	293	0	249	2		0	0	0	0	0	2	1	1	197	980	0	248	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LLGL1	3996	broad.mit.edu	37	17	18133300	18133300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18133300G>A	ENST00000316843.4	+	2	223	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)			21	all_neural(463;0.228)				CCTGGCCTTCGACCCGGAACT	0.622000																								0							SO:0001583	missense			ENST00000316843.4	1	1	hg19	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450212	0.96205	.	.	ENSG00000131899	ENST00000316843	T	0.64618	-0.11	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84122	0.0407	10	0.87932	D	0	-37.7297	17.8256	0.88664	0.0:0.0:1.0:0.0	.	43	Q15334	L2GL1_HUMAN	N	43	ENSP00000321537:D43N	ENSP00000321537:D43N	D	+	1	0	LLGL1	18074025	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	4.514000	0.60482	2.584000	0.87258	0.558000	0.71614	GAC		TCGA-IB-7651-01A-11D-2154-08	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1	118	457	0	109	1	9.999703e-01	23	37	0	109	2		0	0	0	0	0	2	1	1	118	452	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LLGL1	3996	broad.mit.edu	37	17	18135840	18135840	+	Silent	SNP	C	C	T	rs139741665	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18135840C>T	ENST00000316843.4	+	3	307	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)			21	all_neural(463;0.228)				GTTCACAGGCCTGCACCGGGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000316843.4	1	1	hg19	CCDS32586.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1	30	159	0	49	1	9.993029e-01	6	57	0	49	2		0	0	0	0	0	2	1	1	28	157	0	49	2								-20.000000	1	1	121408	1	24	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
LLGL1	3996	broad.mit.edu	37	17	18138215	18138215	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18138215T>C	ENST00000316843.4	+	9	1064	c.968T>C	c.(967-969)gTa>gCa	p.V323A		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)			21	all_neural(463;0.228)				CGCCACTGTGTAAGTGTGCTT	0.582000																								0							SO:0001583	missense			ENST00000316843.4	1	1	hg19	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056948	0.93846	.	.	ENSG00000131899	ENST00000316843	T	0.07908	3.15	5.61	5.61	0.85477	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.118496	0.64402	D	0.000020	T	0.21674	0.0522	M	0.71206	2.165	0.53688	D	0.999977	P	0.52170	0.951	P	0.53035	0.716	T	0.00357	-1.1792	10	0.87932	D	0	-24.0971	14.8227	0.70085	0.0:0.0:0.0:1.0	.	323	Q15334	L2GL1_HUMAN	A	323	ENSP00000321537:V323A	ENSP00000321537:V323A	V	+	2	0	LLGL1	18078940	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.990000	0.88215	2.156000	0.67533	0.524000	0.50904	GTA		TCGA-IB-7651-01A-11D-2154-08	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1	21	150	0	38	1	9.753228e-01	16	30	0	38	2		0	0	0	0	0	2	1	9.999972e-01	20	142	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.950000	1.000000	1.000000	0.996726	0.990000	1	9.900000e-01	1
LLGL1	3996	broad.mit.edu	37	17	18141066	18141066	+	Missense_Mutation	SNP	G	G	A	rs144655159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18141066G>A	ENST00000316843.4	+	14	1979	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)			21	all_neural(463;0.228)				GACTACCAGCGCAAGAGCCCT	0.637000																								0							SO:0001583	missense			ENST00000316843.4	0	1	hg19	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552439	0.86127	0.0	2.33E-4	ENSG00000131899	ENST00000316843	T	0.36157	1.27	5.53	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);	0.048555	0.85682	D	0.000000	T	0.52964	0.1767	L	0.55481	1.735	0.53005	D	0.999966	D	0.89917	1.0	D	0.66602	0.945	T	0.55749	-0.8092	10	0.62326	D	0.03	-30.1925	14.2074	0.65744	0.0716:0.0:0.9284:0.0	.	628	Q15334	L2GL1_HUMAN	H	628	ENSP00000321537:R628H	ENSP00000321537:R628H	R	+	2	0	LLGL1	18081791	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.464000	0.53057	1.366000	0.46076	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	0	20	207	0	24	0	9.378438e-01	0	50	0	24	2		0	0	0	0	0	2	1	9.999961e-01	20	206	0	24	2								-3.221888	1	1	121386	4	37	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.670000	1.000000	1.000000	0.949679	0.990000	1	8.500000e-01	1
LLGL1	3996	broad.mit.edu	37	17	18144854	18144854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18144854G>A	ENST00000316843.4	+	18	2688	c.2592G>A	c.(2590-2592)acG>acA	p.T864T		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)			21	all_neural(463;0.228)				CACTGGCCACGTTTGCCAGTG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000316843.4	1	1	hg19	CCDS32586.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1	44	173	0	43	1	9.997662e-01	19	34	0	43	2		0	0	0	0	0	2	1	1	44	170	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LLGL1	3996	broad.mit.edu	37	17	18145222	18145222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18145222G>T	ENST00000316843.4	+	19	2887	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)			21	all_neural(463;0.228)				ATCCCCATCAGAATTTGAACG	0.572000																								0							SO:0001587	stop_gained			ENST00000316843.4	0	1	hg19	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	40	8.437037	0.98810	.	.	ENSG00000131899	ENST00000316843	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7618	19.5134	0.95153	0.0:0.0:1.0:0.0	.	.	.	.	X	931	.	ENSP00000321537:E931X	E	+	1	0	LLGL1	18085947	1.000000	0.71417	0.940000	0.37924	0.827000	0.46813	9.350000	0.97070	2.696000	0.92011	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	1	0	1	97	470	0	100	1	9.999992e-01	2	96	0	100	2		0	0	0	0	0	2	1	1	96	461	0	100	2								-3.241258	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLII	2314	broad.mit.edu	37	17	18149700	18149700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18149700C>T	ENST00000327031.4	-	24	3353	c.3128G>A	c.(3127-3129)gGc>gAc	p.G1043D	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000545457.2_Missense_Mutation_p.G988D|FLII_ENST00000379450.4_Missense_Mutation_p.G957D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)			32	all_neural(463;0.228)				CTTCCTCTTGCCCCGGTGGAT	0.637000																								0							SO:0001583	missense			ENST00000327031.4	1	1	hg19	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962362	0.92791	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.24350	1.86;1.86	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.996;0.998;0.989	T	0.64110	-0.6484	10	0.72032	D	0.01	-30.6298	19.4312	0.94768	0.0:1.0:0.0:0.0	.	957;957;1043;1012	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	D	1043;922;957	ENSP00000324573:G1043D;ENSP00000368763:G957D	ENSP00000324573:G1043D	G	-	2	0	FLII	18090425	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.116000	0.77119	2.601000	0.87937	0.643000	0.83706	GGC		TCGA-IB-7651-01A-11D-2154-08	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	1	0	1	183	805	0	173	1	1	136	308	0	173	2		0	0	0	0	0	2	1	1	182	785	0	172	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLII	2314	broad.mit.edu	37	17	18150248	18150248	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18150248T>C	ENST00000327031.4	-	22	3020	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000545457.2_Missense_Mutation_p.D877G|FLII_ENST00000379450.4_Missense_Mutation_p.D846G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)			32	all_neural(463;0.228)				GACGTAGCAGTCCTGCGTGTA	0.612000																								0							SO:0001583	missense			ENST00000327031.4	1	1	hg19	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507034	0.64410	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.38077	1.68;1.16;1.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;0.997	D;D;D;D;D	0.83275	0.996;0.996;0.993;0.979;0.989	T	0.70223	-0.4931	10	0.87932	D	0	-37.3956	15.4149	0.74960	0.0:0.0:0.0:1.0	.	846;846;811;932;901	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	G	932;811;846	ENSP00000324573:D932G;ENSP00000438536:D811G;ENSP00000368763:D846G	ENSP00000324573:D932G	D	-	2	0	FLII	18090973	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	5.625000	0.67770	2.045000	0.60652	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	1	0	1	44	384	0	52	1	1	48	352	0	52	2		0	0	0	0	0	2	1	1	43	384	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.910000	1.000000	1.000000	0.994881	0.990000	1	9.900000e-01	1
TOP3A	7156	broad.mit.edu	37	17	18181033	18181033	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18181033T>C	ENST00000321105.5	-	18	2997	c.2783A>G	c.(2782-2784)cAg>cGg	p.Q928R	TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R|TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha			36					GCCACACTGCTGCTCTCTCGG	0.582000																								0							SO:0001583	missense			ENST00000321105.5	1	1	hg19	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705739	0.48412	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.22539	1.95;1.95;1.95	5.65	5.65	0.86999	Zinc finger, GRF-type (1);	0.101533	0.64402	D	0.000001	T	0.28034	0.0691	L	0.52364	1.645	0.80722	D	1	P;P	0.49307	0.922;0.656	P;B	0.46850	0.529;0.424	T	0.01215	-1.1416	10	0.39692	T	0.17	-10.0837	15.8707	0.79117	0.0:0.0:0.0:1.0	.	833;928	B4DK80;Q13472	.;TOP3A_HUMAN	R	928;458;833	ENSP00000321636:Q928R;ENSP00000446425:Q458R;ENSP00000442336:Q833R	ENSP00000321636:Q928R	Q	-	2	0	TOP3A	18121758	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.918000	0.69996	2.162000	0.67917	0.448000	0.29417	CAG		TCGA-IB-7651-01A-11D-2154-08	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2	0	0	1	79	501	0	170	1	9.998482e-01	28	54	0	170	2		0	0	0	0	0	2	1	1	78	489	0	166	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOP3A	7156	broad.mit.edu	37	17	18194223	18194223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194223G>A	ENST00000321105.5	-	12	1614	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha			36					GAGGCCATGGGCCACAAAGCG	0.522000																								0							SO:0001583	missense			ENST00000321105.5	1	1	hg19	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466920	0.63625	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.26957	1.7;1.7	5.72	5.72	0.89469	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.099623	0.64402	D	0.000001	T	0.52725	0.1752	M	0.77712	2.385	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.63283	0.913;0.859	T	0.51560	-0.8690	10	0.51188	T	0.08	-22.6968	19.8731	0.96858	0.0:0.0:1.0:0.0	.	372;467	B4DK80;Q13472	.;TOP3A_HUMAN	V	467;372	ENSP00000321636:A467V;ENSP00000442336:A372V	ENSP00000321636:A467V	A	-	2	0	TOP3A	18134948	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	7.829000	0.86735	2.699000	0.92147	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2	1	0	1	38	259	0	83	1	9.922872e-01	12	42	0	83	2		0	0	0	0	0	2	1	1	38	253	0	83	2								-16.985280	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999748	0.990000	1	9.900000e-01	1
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Silent_p.I363I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha			36					GAGCGATGTCGATCTCCACTG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000321105.5	1	1	hg19	CCDS11194.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2	1	0	1	58	277	0	89	1	9.990141e-01	10	42	0	89	2		0	0	0	0	0	2	1	1	58	273	0	89	2								-20.000000	1	0	121412	2	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOP3A	7156	broad.mit.edu	37	17	18198077	18198077	+	Missense_Mutation	SNP	C	C	T	rs145416998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18198077C>T	ENST00000321105.5	-	10	1227	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha			36					TCTCAACTTTCGAGAAGCCAG	0.433000																								0							SO:0001583	missense			ENST00000321105.5	1	1	hg19	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669499	0.67814	2.27E-4	0.0	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.24538	1.85;1.85	5.25	5.25	0.73442	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.66093	-0.6009	10	0.72032	D	0.01	-15.5167	19.1963	0.93690	0.0:1.0:0.0:0.0	.	243;338	B4DK80;Q13472	.;TOP3A_HUMAN	Q	338;243	ENSP00000321636:R338Q;ENSP00000442336:R243Q	ENSP00000321636:R338Q	R	-	2	0	TOP3A	18138802	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.692000	0.84203	2.610000	0.88304	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2	1	0	1	60	213	0	54	1	9.995566e-01	14	30	0	54	2		0	0	0	0	0	2	1	1	56	207	0	53	2								-20.000000	1	1	121410	1	24	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMCR8	140775	broad.mit.edu	37	17	18219764	18219764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219764G>A	ENST00000406438.3	+	1	1141	c.661G>A	c.(661-663)Gac>Aac	p.D221N	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8			21					GAAAGCCAACGACAAAGGCTT	0.463000																								0							SO:0001583	missense			ENST00000406438.3	1	1	hg19	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871235	0.72065	.	.	ENSG00000176994	ENST00000406438	T	0.29142	1.58	6.03	6.03	0.97812	.	0.116838	0.64402	D	0.000013	T	0.33177	0.0854	N	0.17082	0.46	0.40450	D	0.980134	D	0.57571	0.98	P	0.51999	0.687	T	0.02789	-1.1110	10	0.30854	T	0.27	-41.651	20.5568	0.99304	0.0:0.0:1.0:0.0	.	221	Q8TEV9	SMCR8_HUMAN	N	221	ENSP00000385025:D221N	ENSP00000385025:D221N	D	+	1	0	SMCR8	18160489	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	5.654000	0.67974	2.861000	0.98227	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	1	0	0	10	208	0	59	1	6.695241e-01	3	45	0	59	2		0	0	0	0	0	2	1	9.967137e-01	10	203	0	57	2								-12.234650	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.580000	0.290000	1.000000	0.540000	0.624546	0.580000	0	4.100000e-01	8.600000e-01
SMCR8	140775	broad.mit.edu	37	17	18219847	18219847	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219847C>T	ENST00000406438.3	+	1	1224	c.744C>T	c.(742-744)gaC>gaT	p.D248D	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8			21					AACATCAAGACCTGCTGAAGC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000406438.3	1	1	hg19	CCDS11195.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	1	0	1	32	188	0	78	1	9.733575e-01	9	28	0	78	2		0	0	0	0	0	2	1	1	32	186	0	77	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999933	0.990000	1	9.900000e-01	1
SMCR8	140775	broad.mit.edu	37	17	18221147	18221147	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18221147G>A	ENST00000406438.3	+	1	2524	c.2044G>A	c.(2044-2046)Gcg>Acg	p.A682T	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8			21					GAGCAGTGTAGCGTCCACCAG	0.562000																								0							SO:0001583	missense			ENST00000406438.3	1	1	hg19	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697484	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.44881	0.91	5.87	3.89	0.44902	.	0.323922	0.33127	N	0.005241	T	0.26448	0.0646	N	0.19112	0.55	0.25367	N	0.988735	B	0.15141	0.012	B	0.12156	0.007	T	0.14476	-1.0471	10	0.30854	T	0.27	-7.5156	9.9537	0.41653	0.2648:0.0:0.7352:0.0	.	682	Q8TEV9	SMCR8_HUMAN	T	682	ENSP00000385025:A682T	ENSP00000385025:A682T	A	+	1	0	SMCR8	18161872	0.523000	0.26274	0.686000	0.30086	0.813000	0.45954	1.651000	0.37302	0.942000	0.37525	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	1	0	1	58	248	0	51	1	9.997319e-01	12	43	0	51	2		0	0	0	0	0	2	1	1	57	241	0	51	2								-20.000000	1	1	121412	32	45	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHMT1	6470	broad.mit.edu	37	17	18232655	18232655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18232655C>A	ENST00000316694.3	-	11	1353	c.1219G>T	c.(1219-1221)Gca>Tca	p.A407S	SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S|SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S|SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)			13				Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	GACGTCAGTGCTGGGGTCCCC	0.502000																								0							SO:0001583	missense			ENST00000316694.3	1	1	hg19	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519860	0.96416	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.55588	0.51;1.22;0.51;1.22	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	0.988;1.0	D	0.83833	0.0253	10	0.87932	D	0	-14.926	19.7926	0.96466	0.0:1.0:0.0:0.0	.	368;407	P34896-2;P34896	.;GLYC_HUMAN	S	407;182;327;269;368	ENSP00000318868:A407S;ENSP00000345881:A327S;ENSP00000440089:A269S;ENSP00000318805:A368S	ENSP00000318868:A407S	A	-	1	0	SHMT1	18173380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.761000	0.94854	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	1	0	1	53	159	0	43	1	1	32	85	0	43	2		0	0	0	0	0	2	1	1	52	156	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM16L	147166	broad.mit.edu	37	17	18638416	18638416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638416C>T	ENST00000449552.2	+	7	2174	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRIM16L_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000395672.2_Silent_p.C230C|TRIM16L_ENST00000395671.4_Silent_p.C230C|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Silent_p.C230C			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like			9					GCCTGACCTGCAAAGGCATCG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000449552.2	0	1	hg19	CCDS32588.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	0	0	0	11	409	0	90	0	2.923229e-01	1	37	0	90	2		0	0	0	0	0	2	1	9.981974e-01	11	401	0	96	2								-3.532810	1	1	0	0		1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.340000	0.170000	1.000000	0.310000	0.441409	0.340000	0	2.400000e-01	6.600000e-01
TRIM16L	147166	broad.mit.edu	37	17	18638561	18638561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638561C>T	ENST00000449552.2	+	7	2319	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like			9					TTTCTGGAGGCTCGGGGTCTA	0.517000																								0							SO:0001583	missense			ENST00000449552.2	1	1	hg19	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	11.08	1.534703	0.27475	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.70631	-0.5;-0.5;-0.5	3.35	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.435857	0.21766	U	0.069431	T	0.70211	0.3198	L	0.35644	1.08	0.29799	N	0.832596	D;D;D	0.69078	0.976;0.997;0.976	P;D;P	0.63703	0.812;0.917;0.812	T	0.65080	-0.6255	10	0.87932	D	0	-11.0171	4.6322	0.12507	0.0:0.642:0.2274:0.1306	.	333;495;279	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	F	333;279;279	ENSP00000379239:L333F;ENSP00000379031:L279F;ENSP00000379030:L279F	ENSP00000379030:L279F	L	+	1	0	TRIM16L	18579286	1.000000	0.71417	0.682000	0.30024	0.073000	0.16967	1.577000	0.36515	0.599000	0.29845	0.194000	0.17425	CTC		TCGA-IB-7651-01A-11D-2154-08	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	0	0	0	13	448	0	72	0	1.552658e-01	1	22	0	72	2		0	0	0	0	0	2	1	9.994829e-01	13	439	0	71	2								-11.873440	1	1	0	0		1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.360000	0.190000	1.000000	0.330000	0.459676	0.360000	0	2.600000e-01	6.700000e-01
FBXW10	10517	broad.mit.edu	37	17	18647799	18647799	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18647799A>C	ENST00000395665.4	+	1	463	c.242A>C	c.(241-243)cAg>cCg	p.Q81P	FBXW10_ENST00000308799.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10			42					CAGACCACACAGGGAAAGGAT	0.388000																								0							SO:0001583	missense			ENST00000395665.4	1	1	hg19	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	a	4.933	0.173414	0.09391	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.31	0.808	0.18719	.	0.228558	0.34986	U	0.003536	T	0.36193	0.0958	L	0.56769	1.78	0.19775	N	0.999955	D;D;D;D	0.71674	0.994;0.998;0.99;0.998	D;D;D;D	0.78314	0.986;0.991;0.969;0.934	T	0.08953	-1.0697	10	0.44086	T	0.13	.	2.7706	0.05333	0.5002:0.0:0.1258:0.374	.	81;81;81;81	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	P	81	ENSP00000379026:Q81P;ENSP00000310382:Q81P;ENSP00000306937:Q81P;ENSP00000379025:Q81P	ENSP00000306937:Q81P	Q	+	2	0	FBXW10	18588524	0.930000	0.31532	0.877000	0.34402	0.921000	0.55340	1.512000	0.35812	0.372000	0.24591	0.333000	0.21579	CAG		TCGA-IB-7651-01A-11D-2154-08	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	0	0	0	59	572	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1	45	477	0	164	2								-16.804500	1	1	0	0		1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.990000	0.870000	1.000000	1.000000	0.989740	0.990000	1	9.900000e-01	1
FBXW10	10517	broad.mit.edu	37	17	18661780	18661780	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18661780A>C	ENST00000395665.4	+	7	1616	c.1395A>C	c.(1393-1395)gaA>gaC	p.E465D	FBXW10_ENST00000308799.4_Missense_Mutation_p.E494D|FBXW10_ENST00000301938.4_Missense_Mutation_p.E465D|FBXW10_ENST00000395667.1_Missense_Mutation_p.E465D			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10			42					GTGAGGAGGAAAACTTTCTCC	0.522000																								0							SO:0001583	missense			ENST00000395665.4	1	0	hg19	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925282	0.34002	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	3.21	0.813	0.18749	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.479158	0.20829	N	0.084938	T	0.06005	0.0156	N	0.05280	-0.08	0.19945	N	0.999943	B;B;B;B	0.20550	0.021;0.037;0.046;0.021	B;B;B;B	0.22601	0.013;0.024;0.04;0.013	T	0.39251	-0.9623	10	0.14252	T	0.57	.	4.199	0.10457	0.6564:0.2183:0.1253:0.0	.	465;494;465;465	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	D	465;494;465;465	ENSP00000379026:E465D;ENSP00000310382:E494D;ENSP00000306937:E465D;ENSP00000379025:E465D	ENSP00000306937:E465D	E	+	3	2	FBXW10	18602505	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	1.419000	0.34793	-0.044000	0.13491	0.333000	0.21579	GAA		TCGA-IB-7651-01A-11D-2154-08	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	1	0	0	31	120	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	28	99	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83G	644815	broad.mit.edu	37	17	18881119	18881119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881119G>A	ENST00000388995.6	-	5	2083	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.F620F|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G			22					CTCTCACCTCGAAGTACTCCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000388995.6	1	1	hg19	CCDS42276.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	1	58	267	0	45	1	9.799554e-01	16	15	0	45	2		0	0	0	0	0	2	1	1	57	265	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83G	644815	broad.mit.edu	37	17	18881246	18881246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881246C>A	ENST00000388995.6	-	5	1956	c.1733G>T	c.(1732-1734)gGg>gTg	p.G578V	SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G			22					TTCTTCCACCCCATCCAGCCC	0.667000																								0							SO:0001583	missense			ENST00000388995.6	1	1	hg19	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685496	0.14973	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11604	2.76;2.76	5.91	0.462	0.16695	.	0.705821	0.14695	N	0.303887	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999999	D	0.54047	0.964	P	0.49752	0.621	T	0.10177	-1.0641	10	0.46703	T	0.11	-4.8825	8.4901	0.33095	0.0:0.4611:0.0:0.5389	.	578	A6ND36	FA83G_HUMAN	V	578	ENSP00000373647:G578V;ENSP00000343279:G578V	ENSP00000343279:G578V	G	-	2	0	FAM83G	18821971	0.000000	0.05858	0.002000	0.10522	0.316000	0.28119	0.073000	0.14640	0.225000	0.20959	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	1	111	506	0	103	1	9.997924e-01	32	26	0	103	2		0	0	0	0	0	2	1	1	107	499	0	102	2								-2.930479	1	1	0	0		1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83G	644815	broad.mit.edu	37	17	18881682	18881682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881682C>T	ENST00000388995.6	-	5	1520	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G			22					ATGTTGGGGTCGATGATATTG	0.612000																								0							SO:0001583	missense			ENST00000388995.6	0	1	hg19	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249984	0.95305	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.20332	2.08;2.08	5.59	5.59	0.84812	.	0.120838	0.56097	D	0.000038	T	0.49558	0.1564	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.40997	-0.9533	10	0.45353	T	0.12	-40.7309	19.5945	0.95530	0.0:1.0:0.0:0.0	.	433	A6ND36	FA83G_HUMAN	N	433	ENSP00000373647:D433N;ENSP00000343279:D433N	ENSP00000343279:D433N	D	-	1	0	FAM83G	18822407	1.000000	0.71417	0.990000	0.47175	0.931000	0.56810	7.158000	0.77470	2.642000	0.89623	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	0	12	54	0	8	1	9.989539e-01	25	35	0	8	2		0	0	0	0	0	2	1	9.990538e-01	10	51	0	7	2								-19.996030	1	0	0	0		1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.990000	0.990000	1.000000	1.000000	0.999231	0.990000	1	9.900000e-01	1
FAM83G	644815	broad.mit.edu	37	17	18881887	18881887	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881887G>T	ENST00000388995.6	-	5	1315	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.S364S|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G			22					GCTTCTCAGAGGAGATCTTGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000388995.6	1	1	hg19	CCDS42276.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	1	69	296	0	76	1	9.962217e-01	14	25	0	76	2		0	0	0	0	0	2	1	1	69	293	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83G	644815	broad.mit.edu	37	17	18881907	18881907	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881907C>T	ENST00000388995.6	-	5	1295	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G			22					GCAATCTCGTCGACGCTCTTG	0.627000																								0							SO:0001583	missense			ENST00000388995.6	1	1	hg19	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156648	0.21454	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.15256	2.44;2.44	5.39	5.39	0.77823	.	0.316112	0.30593	N	0.009292	T	0.15478	0.0373	M	0.67953	2.075	0.25909	N	0.983255	P	0.48640	0.913	B	0.33121	0.158	T	0.34800	-0.9814	10	0.22706	T	0.39	-20.4086	12.4985	0.55942	0.0:0.9233:0.0:0.0767	.	358	A6ND36	FA83G_HUMAN	N	358	ENSP00000373647:D358N;ENSP00000343279:D358N	ENSP00000343279:D358N	D	-	1	0	FAM83G	18822632	0.990000	0.36364	0.082000	0.20525	0.045000	0.14185	2.671000	0.46842	2.537000	0.85549	0.491000	0.48974	GAC		TCGA-IB-7651-01A-11D-2154-08	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4	1	0	1	98	403	0	105	1	9.989258e-01	17	27	0	105	2		0	0	0	0	0	2	1	1	98	399	0	105	2								-20.000000	1	0	120900	6	42	1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A10	125206	broad.mit.edu	37	17	18918395	18918395	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18918395C>T	ENST00000395645.3	+	11	1142	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V	SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V|SLC5A10_ENST00000317977.6_Missense_Mutation_p.A308V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10			24					GTGATGCTGGCGGCGCTCATG	0.672000																								0							SO:0001583	missense			ENST00000395645.3	1	1	hg19	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745205	0.89663	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-2.98;-3.31;-3.31	4.95	4.95	0.65309	.	0.051109	0.85682	D	0.000000	D	0.97810	0.9281	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.992;0.994;0.997;0.998	P;P;P;P;P	0.62382	0.901;0.84;0.901;0.84;0.896	D	0.99441	1.0938	10	0.87932	D	0	.	18.1393	0.89634	0.0:1.0:0.0:0.0	.	339;348;375;391;308	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	V	308;391;308;339;375;348	ENSP00000324346:A308V;ENSP00000379008:A391V;ENSP00000379004:A308V;ENSP00000401875:A339V;ENSP00000379007:A375V;ENSP00000379005:A348V	ENSP00000324346:A308V	A	+	2	0	SLC5A10	18859120	1.000000	0.71417	0.991000	0.47740	0.400000	0.30750	7.647000	0.83462	2.448000	0.82819	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	1	0	1	59	263	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	58	261	0	70	2								-3.262578	1	1	121412	6	37	1	1	2	3	2.039724	0	0.170000	2.060000	1.845557e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRAP	10750	broad.mit.edu	37	17	18925281	18925281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18925281C>T	ENST00000284154.5	-	5	1355	c.645G>A	c.(643-645)gtG>gtA	p.V215V	SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000573099.1_Missense_Mutation_p.C159Y|GRAP_ENST00000395635.1_Silent_p.V186V	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein			2	all_cancers(12;0.0183)				CTCACAGGTGCACGGGCTGCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000284154.5	1	1	hg19	CCDS11202.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132176.2	0	0	1	16	73	0	17	0	4.524345e-01	0	8	0	17	2		0	0	0	0	0	2	1	9.999584e-01	16	72	0	17	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
MAPK7	5598	broad.mit.edu	37	17	19283107	19283107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283107C>T	ENST00000308406.5	+	3	631	c.245C>T	c.(244-246)gCc>gTc	p.A82V	B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7			30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)				CAGCAGGTGGCCATCAAGAAG	0.522000																								0							SO:0001583	missense			ENST00000308406.5	1	1	hg19	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103757	0.94245	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.17	4.17	0.49024	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112002	0.64402	D	0.000012	D	0.86531	0.5955	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89638	0.3860	10	0.87932	D	0	-16.6401	14.3915	0.66983	0.0:1.0:0.0:0.0	.	82	Q13164	MK07_HUMAN	V	82	ENSP00000311005:A82V;ENSP00000412902:A82V;ENSP00000378968:A82V;ENSP00000378966:A82V	ENSP00000311005:A82V	A	+	2	0	MAPK7	19223700	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.293000	0.78740	2.327000	0.79052	0.460000	0.39030	GCC		TCGA-IB-7651-01A-11D-2154-08	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	0	37	398	0	98	1	8.708807e-01	3	38	0	98	2		0	0	0	0	0	2	1	1	36	392	0	96	2								-10.918110	1	0	121412	1	33	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.730000	1.000000	1.000000	0.953036	0.990000	1	8.700000e-01	1
MAPK7	5598	broad.mit.edu	37	17	19283132	19283132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283132C>T	ENST00000308406.5	+	3	656	c.270C>T	c.(268-270)ttC>ttT	p.F90F	B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Silent_p.F90F|MAPK7_ENST00000395602.4_Silent_p.F90F	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	p.F90F(1)		30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)				CTAATGCTTTCGATGTGGTGA	0.527000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000308406.5	1	1	hg19	CCDS11206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	0	78	380	0	100	1	9.974661e-01	7	39	0	100	2		0	0	0	0	0	2	1	1	76	373	0	97	2								-3.168748	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK7	5598	broad.mit.edu	37	17	19284985	19284985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19284985G>T	ENST00000308406.5	+	4	1849	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7			30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)				AAGTCTTTGAGGAGCCGGCTC	0.572000																								0							SO:0001583	missense			ENST00000308406.5	1	1	hg19	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	8.355	0.831813	0.16820	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.76839	-0.76;-1.05;-0.76;-0.76	4.25	3.28	0.37604	.	0.054356	0.64402	D	0.000001	T	0.80660	0.4665	L	0.40543	1.245	0.36651	D	0.877375	D	0.76494	0.999	D	0.74674	0.984	T	0.81874	-0.0732	10	0.44086	T	0.13	-18.1555	10.0352	0.42125	0.0997:0.0:0.9003:0.0	.	488	Q13164	MK07_HUMAN	M	488;349;488;488	ENSP00000311005:R488M;ENSP00000299612:R349M;ENSP00000378968:R488M;ENSP00000378966:R488M	ENSP00000299612:R349M	R	+	2	0	MAPK7	19225578	1.000000	0.71417	0.399000	0.26333	0.027000	0.11550	2.565000	0.45939	1.011000	0.39340	-0.254000	0.11334	AGG		TCGA-IB-7651-01A-11D-2154-08	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	1	24	125	0	18	1	9.984702e-01	12	45	0	18	2		0	0	0	0	0	2	1	9.999998e-01	24	124	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999914	0.990000	1	9.900000e-01	1
MAPK7	5598	broad.mit.edu	37	17	19286192	19286192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286192G>A	ENST00000308406.5	+	6	2616	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000571657.1_3'UTR|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7			30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)				CTACGGTGTTGGCTTTGACCT	0.577000																								0							SO:0001583	missense			ENST00000308406.5	1	1	hg19	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259303	0.95368	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;D;T;T	0.82526	-1.41;-1.62;-1.41;-1.41	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	M	0.63843	1.955	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	D	0.90678	0.4603	10	0.87932	D	0	-27.6555	16.7641	0.85520	0.0:0.0:1.0:0.0	.	744	Q13164	MK07_HUMAN	S	744;605;744;744	ENSP00000311005:G744S;ENSP00000299612:G605S;ENSP00000378968:G744S;ENSP00000378966:G744S	ENSP00000299612:G605S	G	+	1	0	MAPK7	19226785	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.830000	0.92063	2.565000	0.86533	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	1	91	407	0	97	1	9.999999e-01	27	81	0	97	2		0	0	0	0	0	2	1	1	91	395	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK7	5598	broad.mit.edu	37	17	19286530	19286530	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286530C>A	ENST00000308406.5	+	7	2823	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000571657.1_3'UTR|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7			30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)				CCTGCCTGACCTCCAGGACCC	0.597000																								0							SO:0001583	missense			ENST00000308406.5	1	1	hg19	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182562	0.78677	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.80480	-1.14;-1.38;-1.14;-1.14	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000022	T	0.82130	0.4970	L	0.54323	1.7	0.29680	N	0.841812	P	0.51057	0.941	P	0.49332	0.607	T	0.81733	-0.0798	10	0.87932	D	0	-18.1186	15.6104	0.76713	0.0:1.0:0.0:0.0	.	813	Q13164	MK07_HUMAN	I	813;674;813;813	ENSP00000311005:L813I;ENSP00000299612:L674I;ENSP00000378968:L813I;ENSP00000378966:L813I	ENSP00000299612:L674I	L	+	1	0	MAPK7	19227123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.757000	0.62213	2.269000	0.75478	0.491000	0.48974	CTC		TCGA-IB-7651-01A-11D-2154-08	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	1	0	1	46	234	0	59	1	9.999990e-01	22	87	0	59	2		0	0	0	0	0	2	1	1	45	229	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFAP4	4239	broad.mit.edu	37	17	19287868	19287868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19287868G>A	ENST00000299610.4	-	6	759	c.675C>T	c.(673-675)tcC>tcT	p.S225S	MFAP4_ENST00000395592.2_Silent_p.S249S|MFAP4_ENST00000497081.2_Silent_p.S250S|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4			10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)				AAGAGAGGTGGGAGCCACCTA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000299610.4	1	1	hg19	CCDS11208.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	1	0	0	35	136	0	31	0	1	1	419	0	31	2		0	0	0	0	0	2	1	1	33	126	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFAP4	4239	broad.mit.edu	37	17	19288434	19288434	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19288434T>C	ENST00000299610.4	-	5	582	c.498A>G	c.(496-498)gcA>gcG	p.A166A	MFAP4_ENST00000395592.2_Silent_p.A190A|MFAP4_ENST00000497081.2_Silent_p.A191A|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4			10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)				CCTCAAAGCCTGCCACAAAGA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000299610.4	1	1	hg19	CCDS11208.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	1	0	1	107	480	0	128	0	1	0	402	0	128	2		0	0	0	0	0	2	1	1	102	466	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFAP4	4239	broad.mit.edu	37	17	19289705	19289705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19289705C>T	ENST00000299610.4	-	3	242	c.158G>A	c.(157-159)gGc>gAc	p.G53D	MFAP4_ENST00000395592.2_Missense_Mutation_p.G77D|MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4			10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)				GAGGTACACGCCGTCTGACTG	0.617000																								0							SO:0001583	missense			ENST00000299610.4	1	1	hg19	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716638	0.89205	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.35973	1.28;1.28	5.3	5.3	0.74995	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000010	T	0.63189	0.2490	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66846	-0.5820	10	0.59425	D	0.04	.	16.5105	0.84283	0.0:1.0:0.0:0.0	.	53;77	P55083;A8MVM2	MFAP4_HUMAN;.	D	77;53	ENSP00000378957:G77D;ENSP00000299610:G53D	ENSP00000299610:G53D	G	-	2	0	MFAP4	19230298	1.000000	0.71417	0.939000	0.37840	0.784000	0.44337	7.083000	0.76859	2.499000	0.84300	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	1	0	1	32	122	0	43	0	1	0	371	0	43	2		0	0	0	0	0	2	1	1	32	120	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF112	7732	broad.mit.edu	37	17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19318461G>A	ENST00000461366.1	+	11	1452	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112			12					CGAGGGGCGCGCCGTGGCCAG	0.662000																								0							SO:0001583	missense			ENST00000461366.1	1	1	hg19	CCDS58529.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	1	0	1	77	283	0	51	0	2.057694e-01	0	4	0	51	2		0	0	0	0	0	2	1	1	77	281	0	49	2								-3.937340	1	1	120820	4	37	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPH1	1801	broad.mit.edu	37	17	1943631	1943631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943631G>A	ENST00000263083.6	+	8	929	c.884G>A	c.(883-885)gGc>gAc	p.G295D	OVCA2_ENST00000572195.1_5'Flank|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_Missense_Mutation_p.G215D	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1			17					CTTATTCTGGGCACTTTGGGC	0.592000																								0							SO:0001583	missense			ENST00000263083.6	1	1	hg19	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719372	0.89205	.	.	ENSG00000108963	ENST00000263083	T	0.54866	0.55	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.996;0.998;0.986	D	0.85799	0.1372	10	0.87932	D	0	-18.5475	17.1373	0.86743	0.0:0.0:1.0:0.0	.	305;305;295	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	D	295	ENSP00000263083:G295D	ENSP00000263083:G295D	G	+	2	0	DPH1	1890381	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.199000	0.72112	2.380000	0.81148	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	1	0	1	43	398	0	88	1	9.932102e-01	14	59	0	88	2		0	0	0	0	0	2	1	1	43	394	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.860000	1.000000	1.000000	0.989448	0.990000	1	9.900000e-01	1
DPH1	1801	broad.mit.edu	37	17	1943817	1943817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943817C>T	ENST00000263083.6	+	9	985	c.940C>T	c.(940-942)Cga>Tga	p.R314*	OVCA2_ENST00000572195.1_5'Flank|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*|RP11-667K14.3_ENST00000572790.1_lincRNA	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1			17					ATCTCGACTCCGAGCCTTGGG	0.577000																								0							SO:0001587	stop_gained			ENST00000263083.6	0	1	hg19	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	40	7.956974	0.98580	.	.	ENSG00000108963	ENST00000263083	.	.	.	5.25	3.18	0.36537	.	0.822586	0.11389	N	0.569013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	3.1253	9.3191	0.37952	0.1461:0.7767:0.0:0.0773	.	.	.	.	X	314	.	ENSP00000263083:R314X	R	+	1	2	DPH1	1890567	0.025000	0.19082	0.052000	0.19188	0.171000	0.22731	1.746000	0.38288	1.152000	0.42452	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	1	0	1	63	356	0	88	1	9.993910e-01	3	61	0	88	2		0	0	0	0	0	2	1	1	62	346	0	88	2								-2.776913	1	1	120994	1	34	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OVCA2	124641	broad.mit.edu	37	17	1946353	1946353	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-667K14.4_ENST00000572404.1_RNA|RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2								CAGCTGCACCCCAGCGTCAGG	0.562000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000572195.1	1	1	hg19	CCDS11015.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	1	0	0	25	502	0	104	1	9.999993e-01	39	431	0	104	2		0	0	0	0	0	2	1	9.999998e-01	25	490	0	103	2								-2.681314	1	1	121408	18	44	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.580000	0.380000	1.000000	0.560000	0.623344	0.580000	0	4.700000e-01	7.600000e-01
HIC1	3090	broad.mit.edu	37	17	1960076	1960076	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960076T>C	ENST00000322941.3	+	2	149	c.149T>C	c.(148-150)aTc>aCc	p.I50T	HIC1_ENST00000399849.3_Missense_Mutation_p.I31T	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1			3					TGCGACGTGATCATCGTGGTG	0.637000																								0							SO:0001583	missense			ENST00000322941.3	1	1	hg19	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019842	0.54576	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.62639	0.01;0.01	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.43942	0.1270	N	0.11154	0.105	0.48511	D	0.999666	B	0.33883	0.43	B	0.35859	0.212	T	0.45673	-0.9245	9	0.38643	T	0.18	.	12.8345	0.57765	0.0:0.0:0.0:1.0	.	50	Q14526	HIC1_HUMAN	T	31;50	ENSP00000382742:I31T;ENSP00000314080:I50T	ENSP00000314080:I50T	I	+	2	0	HIC1	1906826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.676000	0.61627	1.706000	0.51276	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	0	0	0	9	323	0	58	0	3.235181e-01	0	39	0	58	2		0	0	0	0	0	2	1	9.939761e-01	9	318	0	57	2								-9.884333	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.350000	0.160000	1.000000	0.320000	0.418848	0.350000	0	2.400000e-01	5.300000e-01
HIC1	3090	broad.mit.edu	37	17	1960163	1960163	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960163A>C	ENST00000322941.3	+	2	236	c.236A>C	c.(235-237)gAc>gCc	p.D79A	HIC1_ENST00000399849.3_Missense_Mutation_p.D60A|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1			3					GTGGTGCATGACAACCTGCTC	0.642000																								0							SO:0001583	missense			ENST00000322941.3	1	1	hg19	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473536	0.63737	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.23348	1.91;1.91	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.47728	0.1461	M	0.67625	2.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.51036	-0.8756	9	0.72032	D	0.01	.	12.8345	0.57765	1.0:0.0:0.0:0.0	.	79	Q14526	HIC1_HUMAN	A	60;79	ENSP00000382742:D60A;ENSP00000314080:D79A	ENSP00000314080:D79A	D	+	2	0	HIC1	1906913	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.895000	0.69814	1.706000	0.51276	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	1	0	0	33	358	0	79	0	9.466468e-01	0	55	0	79	2		0	0	0	0	0	2	1	1	33	356	0	79	2								-10.608360	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.710000	1.000000	1.000000	0.948263	0.990000	1	8.500000e-01	1
SLC47A2	146802	broad.mit.edu	37	17	19618448	19618448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19618448G>A	ENST00000325411.5	-	2	256	c.206C>T	c.(205-207)tCg>tTg	p.S69L	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.S69L	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2			9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)			Aciclovir(DB00787)	GAGGGTCACCGATGCCAGCTC	0.637000																								0							SO:0001583	missense			ENST00000325411.5	1	1	hg19	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108446	0.20714	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.31510	1.49;1.49;1.49	4.55	4.55	0.56014	.	0.508910	0.17472	U	0.173074	T	0.49081	0.1536	M	0.87547	2.89	0.09310	N	1	P;P;B	0.50528	0.936;0.936;0.41	P;P;B	0.48334	0.574;0.574;0.147	T	0.53585	-0.8418	10	0.87932	D	0	-7.3266	15.1595	0.72771	0.0:0.0:1.0:0.0	.	69;69;69	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	69;69;20;69	ENSP00000338084:S69L;ENSP00000326671:S69L;ENSP00000391848:S69L	ENSP00000326671:S69L	S	-	2	0	SLC47A2	19559040	0.107000	0.21998	0.004000	0.12327	0.274000	0.26718	3.066000	0.50002	2.252000	0.74401	0.305000	0.20034	TCG		TCGA-IB-7651-01A-11D-2154-08	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	1	0	1	90	403	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	89	402	0	76	2								-3.402657	1	1	121412	3	37	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH3A1	218	broad.mit.edu	37	17	19642967	19642967	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19642967C>T	ENST00000457500.2	-	7	1299	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Intron	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1			13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)				TGGGGGTCCACGTCCGTGAGG	0.632000																								0							SO:0001583	missense			ENST00000457500.2	1	1	hg19	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885704	0.91814	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.82	4.82	0.62117	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.122950	0.56097	D	0.000037	D	0.92273	0.7549	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.993	D	0.94413	0.7633	10	0.87932	D	0	-20.6296	16.9051	0.86124	0.0:1.0:0.0:0.0	.	324;441;324	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	M	324;382;324;324;251;324	ENSP00000225740:V324M;ENSP00000388469:V324M;ENSP00000411821:V324M;ENSP00000389766:V324M	ENSP00000225740:V324M	V	-	1	0	ALDH3A1	19583559	0.997000	0.39634	0.918000	0.36340	0.909000	0.53808	7.420000	0.80191	2.232000	0.73038	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	1	0	1	26	134	0	38	1	9.999971e-01	59	54	0	38	2		0	0	0	0	0	2	1	1	26	133	0	38	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
SMG6	23293	broad.mit.edu	37	17	1968799	1968799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1968799G>A	ENST00000263073.6	-	17	4060	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	SMG6_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000544865.1_Missense_Mutation_p.S1306F|SMG6_ENST00000354901.4_Missense_Mutation_p.S429F|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor			45					GAAGGCGATGGATTCGAGTTC	0.597000													Melanoma(59;28 1088 11621 25887 46638 50814)											0							SO:0001583	missense			ENST00000263073.6	1	1	hg19	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093095	0.94149	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.21734	2.8;2.8;1.99	5.56	5.56	0.83823	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55774	-0.8088	10	0.87932	D	0	-5.4885	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1337	Q86US8	EST1A_HUMAN	F	1337;1306;248;429	ENSP00000263073:S1337F;ENSP00000443920:S1306F;ENSP00000440283:S429F	ENSP00000263073:S1337F	S	-	2	0	SMG6	1915549	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.430000	0.97488	2.640000	0.89533	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1	32	137	0	31	1	9.999423e-01	18	51	0	31	2		0	0	0	0	0	2	1	1	31	134	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
AKAP10	11216	broad.mit.edu	37	17	19835269	19835269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19835269G>A	ENST00000225737.6	-	10	1647	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	AKAP10_ENST00000395536.3_Intron|RP11-209D14.4_ENST00000583067.1_RNA	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10			21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)				AAGATTGCTGGACAAAAAGCC	0.353000																								0							SO:0001583	missense			ENST00000225737.6	1	1	hg19	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884801	0.91814	.	.	ENSG00000108599	ENST00000225737	T	0.22945	1.93	5.78	5.78	0.91487	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.40543	1.245	0.58432	D	0.999998	D	0.76494	0.999	D	0.72982	0.979	T	0.26744	-1.0094	10	0.72032	D	0.01	-7.8725	19.0829	0.93190	0.0:0.0:1.0:0.0	.	497	O43572	AKA10_HUMAN	F	497	ENSP00000225737:S497F	ENSP00000225737:S497F	S	-	2	0	AKAP10	19775861	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.102000	0.94226	2.761000	0.94854	0.644000	0.83932	TCC		TCGA-IB-7651-01A-11D-2154-08	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	0	0	0	10	246	0	33	0	2.576576e-01	0	23	0	33	2		0	0	0	0	0	2	1	9.966638e-01	10	240	0	33	2								-11.704950	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.490000	0.250000	1.000000	0.460000	0.546033	0.490000	0	3.500000e-01	7.300000e-01
AKAP10	11216	broad.mit.edu	37	17	19866323	19866323	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19866323A>G	ENST00000225737.6	-	3	306	c.149T>C	c.(148-150)gTa>gCa	p.V50A	AKAP10_ENST00000395536.3_Missense_Mutation_p.V50A|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10			21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)				TGGGGAATGTACGGATATTGA	0.358000																								0							SO:0001583	missense			ENST00000225737.6	1	1	hg19	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471731	0.26423	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.35421	1.31	5.87	3.66	0.41972	.	0.219160	0.47852	N	0.000203	T	0.30727	0.0774	L	0.51422	1.61	0.23568	N	0.997396	B;B;B	0.34015	0.001;0.435;0.084	B;B;B	0.32762	0.002;0.152;0.03	T	0.14282	-1.0478	10	0.46703	T	0.11	-2.4956	9.4773	0.38880	0.857:0.0:0.143:0.0	.	50;50;50	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	A	50	ENSP00000225737:V50A	ENSP00000225737:V50A	V	-	2	0	AKAP10	19806915	1.000000	0.71417	0.918000	0.36340	0.886000	0.51366	3.067000	0.50010	0.483000	0.27608	-0.361000	0.07541	GTA		TCGA-IB-7651-01A-11D-2154-08	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	1	0	1	75	448	0	95	1	9.702142e-01	10	26	0	95	2		0	0	0	0	0	2	1	1	75	436	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGALS9B	284194	broad.mit.edu	37	17	20354929	20354929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20354929G>T	ENST00000423676.3	-	10	852	c.789C>A	c.(787-789)agC>agA	p.S263R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B			10					AGGCGATGTGGCTCCCAGAGC	0.577000																								0							SO:0001583	missense			ENST00000423676.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.204	1.029124	0.19512	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	0.871	0.19107	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.866267	0.10476	N	0.670136	T	0.46073	0.1374	M	0.72353	2.195	0.27223	N	0.959618	B;B	0.27853	0.122;0.191	B;B	0.34452	0.183;0.098	T	0.50145	-0.8862	9	0.56958	D	0.05	.	4.1324	0.10156	0.6148:0.0:0.3852:0.0	.	263;262	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	R	262;263	.	ENSP00000315564:S263R	S	-	3	2	LGALS9B	20295521	0.000000	0.05858	0.993000	0.49108	0.611000	0.37282	-0.391000	0.07323	0.239000	0.21243	0.194000	0.17425	AGC		TCGA-IB-7651-01A-11D-2154-08	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	1	0	0	76	346	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	69	318	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG6	23293	broad.mit.edu	37	17	2076037	2076037	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2076037A>G	ENST00000263073.6	-	13	3322	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SMG6_ENST00000354901.4_Missense_Mutation_p.L183P|SMG6_ENST00000536871.2_Missense_Mutation_p.L183P|SMG6_ENST00000544865.1_Missense_Mutation_p.L1060P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor			45					ATCCTCTTCCAGGATAAGAAG	0.562000													Melanoma(59;28 1088 11621 25887 46638 50814)											0							SO:0001583	missense			ENST00000263073.6	1	1	hg19	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231593	0.58777	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.55413	0.52;0.52;0.52	6.02	4.95	0.65309	.	0.090669	0.46145	D	0.000312	T	0.56307	0.1976	M	0.82323	2.585	0.80722	D	1	B	0.29162	0.235	B	0.29524	0.103	T	0.58951	-0.7545	10	0.87932	D	0	-5.0247	10.8308	0.46659	0.929:0.0:0.071:0.0	.	1091	Q86US8	EST1A_HUMAN	P	1091;1060;183	ENSP00000263073:L1091P;ENSP00000443920:L1060P;ENSP00000440283:L183P	ENSP00000263073:L1091P	L	-	2	0	SMG6	2022787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.128000	0.89595	1.108000	0.41662	0.448000	0.29417	CTG		TCGA-IB-7651-01A-11D-2154-08	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1	62	319	0	82	1	9.996616e-01	25	38	0	82	2		0	0	0	0	0	2	1	1	60	308	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNJ12	3768	broad.mit.edu	37	17	21318812	21318812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21318812G>A	ENST00000583088.1	+	3	1053	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12			70				Dofetilide(DB00204)|Yohimbine(DB01392)	AATGGCCAGTGCAACATTGAG	0.602000										Prostate(3;0.18)														0							SO:0001583	missense			ENST00000583088.1	1	1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267354	0.80469	.	.	ENSG00000184185	ENST00000331718	D	0.95482	-3.72	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98601	0.9532	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99651	1.0991	10	0.87932	D	0	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	53	Q14500	IRK12_HUMAN	Y	53	ENSP00000328150:C53Y	ENSP00000328150:C53Y	C	+	2	0	KCNJ12	21259405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.690000	0.98676	2.506000	0.84524	0.591000	0.81541	TGC		TCGA-IB-7651-01A-11D-2154-08	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	0	0	17	332	0	60	0	7.946143e-03	0	3	0	60	2		0	0	0	0	0	2	1	9.999655e-01	16	330	0	59	2								-18.259490	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.600000	0.350000	1.000000	0.570000	0.639643	0.600000	0	4.600000e-01	8.200000e-01
KCNJ12	3768	broad.mit.edu	37	17	21319300	21319300	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319300G>T	ENST00000583088.1	+	3	1541	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12			70				Dofetilide(DB00204)|Yohimbine(DB01392)	GTGGCGTGTGGGTAACCTGCG	0.642000										Prostate(3;0.18)														0							SO:0001583	missense			ENST00000583088.1	1	1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383461	0.82792	.	.	ENSG00000184185	ENST00000331718	D	0.95622	-3.76	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97607	0.9216	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98276	1.0506	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	216	Q14500	IRK12_HUMAN	C	216	ENSP00000328150:G216C	ENSP00000328150:G216C	G	+	1	0	KCNJ12	21259893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	0	0	29	353	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	29	339	0	72	2								-3.142703	1	1	121410	3	29	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.920000	0.620000	1.000000	1.000000	0.896065	0.920000	1	7.600000e-01	1
SMG6	23293	broad.mit.edu	37	17	2139876	2139876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139876G>A	ENST00000263073.6	-	10	2829	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	SMG6_ENST00000354901.4_Silent_p.L19L|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.L19L|SMG6_ENST00000544865.1_Silent_p.L896L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor			45					CTGTGCTGCAGTAACACCTGG	0.507000													Melanoma(59;28 1088 11621 25887 46638 50814)											0							SO:0001819	synonymous_variant			ENST00000263073.6	1	1	hg19	CCDS11016.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1	75	337	0	76	1	9.989097e-01	13	35	0	76	2		0	0	0	0	0	2	1	1	72	326	0	76	2								-3.235289	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG6	23293	broad.mit.edu	37	17	2139898	2139898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139898G>A	ENST00000263073.6	-	10	2807	c.2757C>T	c.(2755-2757)gtC>gtT	p.V919V	SMG6_ENST00000354901.4_Silent_p.V11V|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.V11V|SMG6_ENST00000544865.1_Silent_p.V888V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor			45					ACTCCTTGAGGACCTTCTCAG	0.502000													Melanoma(59;28 1088 11621 25887 46638 50814)											0							SO:0001819	synonymous_variant			ENST00000263073.6	1	1	hg19	CCDS11016.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1	70	298	0	69	1	9.998040e-01	11	45	0	69	2		0	0	0	0	0	2	1	1	65	285	0	69	2								-3.321655	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG6	23293	broad.mit.edu	37	17	2202719	2202719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202719G>T	ENST00000263073.6	-	2	1378	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y	SMG6_ENST00000544865.1_Missense_Mutation_p.S412Y	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor			45					CCAACTCCGAGATCCCTTACT	0.537000													Melanoma(59;28 1088 11621 25887 46638 50814)											0							SO:0001583	missense			ENST00000263073.6	1	1	hg19	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001912	0.54254	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.09538	2.97;2.97	5.54	5.54	0.83059	.	0.498560	0.22116	N	0.064408	T	0.08802	0.0218	N	0.19112	0.55	0.26833	N	0.968548	P	0.36789	0.57	B	0.36885	0.235	T	0.18681	-1.0329	10	0.66056	D	0.02	-3.384	12.7756	0.57445	0.0749:0.0:0.9251:0.0	.	443	Q86US8	EST1A_HUMAN	Y	443;412	ENSP00000263073:S443Y;ENSP00000443920:S412Y	ENSP00000263073:S443Y	S	-	2	0	SMG6	2149469	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.268000	0.58883	2.592000	0.87571	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1	145	797	0	189	1	9.704590e-01	10	23	0	189	2		0	0	0	0	0	2	1	1	140	775	0	186	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG6	23293	broad.mit.edu	37	17	2202763	2202763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202763C>T	ENST00000263073.6	-	2	1334	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	SMG6_ENST00000544865.1_Silent_p.A397A	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor			45					GTCCCAAAGGCGCGGACTCTG	0.547000													Melanoma(59;28 1088 11621 25887 46638 50814)											0							SO:0001819	synonymous_variant			ENST00000263073.6	1	1	hg19	CCDS11016.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	1	115	573	0	149	1	9.999679e-01	22	53	0	149	2		0	0	0	0	0	2	1	1	109	560	0	149	2								-20.000000	1	0	121412	1	38	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG6	23293	broad.mit.edu	37	17	2203925	2203925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2203925C>T	ENST00000263073.6	-	2	172	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SMG6_ENST00000544865.1_Missense_Mutation_p.R10H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor			45					GTTATCTTTGCGCGGCCTGGC	0.473000													Melanoma(59;28 1088 11621 25887 46638 50814)											0							SO:0001583	missense			ENST00000263073.6	1	1	hg19	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275492	0.59649	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.13089	2.84;2.62	5.5	5.5	0.81552	.	0.132986	0.49916	D	0.000140	T	0.29256	0.0728	L	0.34521	1.04	0.41999	D	0.990885	D	0.89917	1.0	D	0.83275	0.996	T	0.01169	-1.1430	10	0.39692	T	0.17	-4.384	19.3907	0.94581	0.0:1.0:0.0:0.0	.	41	Q86US8	EST1A_HUMAN	H	41;10	ENSP00000263073:R41H;ENSP00000443920:R10H	ENSP00000263073:R41H	R	-	2	0	SMG6	2150675	0.998000	0.40836	0.999000	0.59377	0.925000	0.55904	4.288000	0.59007	2.569000	0.86673	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3	1	0	0	25	411	0	60	0	5.134317e-01	1	28	0	60	2		0	0	0	0	0	2	1	9.999998e-01	24	400	0	60	2								-3.142767	1	1	121388	1	30	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.700000	0.460000	1.000000	0.680000	0.729040	0.700000	0	5.700000e-01	9.100000e-01
SRR	63826	broad.mit.edu	37	17	2224884	2224884	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2224884C>A	ENST00000344595.5	+	6	886	c.568C>A	c.(568-570)Ctt>Att	p.L190I	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase			8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		L-Serine(DB00133)	AGGAGGAATGCTTGCTGGAAT	0.388000																								0							SO:0001583	missense			ENST00000344595.5	1	1	hg19	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	c	2.749	-0.260449	0.05791	.	.	ENSG00000167720	ENST00000344595	D	0.96396	-4.0	5.95	-4.59	0.03400	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.777035	0.12313	N	0.479999	D	0.83917	0.5358	N	0.03194	-0.395	0.20638	N	0.999872	B	0.02656	0.0	B	0.14578	0.011	T	0.78357	-0.2235	10	0.02654	T	1	1.469	7.3126	0.26483	0.401:0.2808:0.3182:0.0	.	190	Q9GZT4	SRR_HUMAN	I	190	ENSP00000339435:L190I	ENSP00000339435:L190I	L	+	1	0	SRR	2171634	0.167000	0.22975	0.866000	0.34008	0.944000	0.59088	-0.865000	0.04250	-0.596000	0.05821	-2.134000	0.00341	CTT		TCGA-IB-7651-01A-11D-2154-08	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	1	0	1	48	258	0	51	1	9.997476e-01	16	53	0	51	2		0	0	0	0	0	2	1	1	46	258	0	51	2								-19.999850	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SRR	63826	broad.mit.edu	37	17	2226545	2226545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2226545C>T	ENST00000344595.5	+	7	1028	c.710C>T	c.(709-711)gCa>gTa	p.A237V	TSR1_ENST00000301364.5_3'UTR|SRR_ENST00000576848.1_Missense_Mutation_p.A11V	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase			8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		L-Serine(DB00133)	GAAACCATAGCAGATGGTGTC	0.463000																								0							SO:0001583	missense			ENST00000344595.5	1	1	hg19	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694601	0.88830	.	.	ENSG00000167720	ENST00000344595	D	0.97455	-4.39	5.88	5.88	0.94601	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.224065	0.47455	N	0.000236	D	0.98704	0.9565	M	0.90595	3.13	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.99421	1.0933	10	0.87932	D	0	-23.5163	19.2253	0.93816	0.0:1.0:0.0:0.0	.	237	Q9GZT4	SRR_HUMAN	V	237	ENSP00000339435:A237V	ENSP00000339435:A237V	A	+	2	0	SRR	2173295	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.992000	0.63889	2.788000	0.95919	0.555000	0.69702	GCA		TCGA-IB-7651-01A-11D-2154-08	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	0	0	0	17	655	0	110	1	9.489007e-01	9	184	0	110	2		0	0	0	0	0	2	1	9.999577e-01	17	640	0	109	2								-2.983866	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.310000	0.180000	1.000000	0.300000	0.386844	0.310000	0	2.400000e-01	4.400000e-01
SRR	63826	broad.mit.edu	37	17	2227000	2227000	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2227000G>A	ENST00000344595.5	+	8	1174	c.856G>A	c.(856-858)Gct>Act	p.A286T	TSR1_ENST00000301364.5_3'UTR|SRR_ENST00000576848.1_Missense_Mutation_p.A60T	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase			8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		L-Serine(DB00133)	TGAACCTACAGCTGGTGTTGG	0.453000																								0							SO:0001583	missense			ENST00000344595.5	1	1	hg19	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181429	0.78677	.	.	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.52	5.52	0.82312	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.052350	0.85682	D	0.000000	D	0.97885	0.9305	M	0.77486	2.375	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.98579	1.0649	10	0.87932	D	0	-3.5344	18.4444	0.90678	0.0:0.0:1.0:0.0	.	286	Q9GZT4	SRR_HUMAN	T	286	ENSP00000339435:A286T	ENSP00000339435:A286T	A	+	1	0	SRR	2173750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.267000	0.72546	2.602000	0.87976	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	1	0	1	44	199	0	45	1	1	47	102	0	45	2		0	0	0	0	0	2	1	1	43	195	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGSM2	9905	broad.mit.edu	37	17	2265527	2265527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2265527C>A	ENST00000426855.2	+	4	596	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	SGSM2_ENST00000574563.1_Missense_Mutation_p.L141M|SGSM2_ENST00000268989.3_Missense_Mutation_p.L141M	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2			20					CGAGAAAGTTCTGGACAAGGT	0.627000																								0							SO:0001583	missense			ENST00000426855.2	1	1	hg19	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612666	0.28712	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.67523	-0.27;-0.27	4.67	3.67	0.42095	RUN (3);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.73319	2.225	0.80722	D	1	P;B;B	0.43662	0.814;0.359;0.421	B;B;B	0.44133	0.41;0.442;0.176	T	0.71560	-0.4556	10	0.87932	D	0	-6.9354	11.3737	0.49715	0.0:0.9069:0.0:0.0931	.	141;141;141	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	M	141	ENSP00000268989:L141M;ENSP00000415107:L141M	ENSP00000268989:L141M	L	+	1	2	SGSM2	2212277	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	2.664000	0.46783	1.028000	0.39785	0.205000	0.17691	CTG		TCGA-IB-7651-01A-11D-2154-08	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	0	0	0	17	605	0	101	0	2.574216e-01	0	34	0	101	2		0	0	0	0	0	2	1	9.999591e-01	17	593	0	99	2								-3.446087	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.340000	0.190000	1.000000	0.320000	0.409322	0.340000	0	2.600000e-01	4.700000e-01
SGSM2	9905	broad.mit.edu	37	17	2281186	2281186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2281186G>T	ENST00000426855.2	+	21	2878	c.2703G>T	c.(2701-2703)caG>caT	p.Q901H	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.Q901H|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.Q946H	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2			20					TGATGCATCAGAATGGAGACT	0.537000																								0							SO:0001583	missense			ENST00000426855.2	1	1	hg19	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.841965	0.51057	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.23147	1.92;1.92	6.04	3.73	0.42828	Rab-GAP/TBC domain (5);	0.216848	0.49305	D	0.000150	T	0.46833	0.1413	M	0.75447	2.3	0.47862	D	0.999531	D;D;D;D	0.69078	0.997;0.984;0.984;0.98	D;P;P;P	0.71414	0.973;0.876;0.876;0.844	T	0.48927	-0.8991	10	0.72032	D	0.01	-5.6589	9.9037	0.41364	0.2421:0.0:0.7579:0.0	.	901;901;901;946	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	H	946;901	ENSP00000268989:Q946H;ENSP00000415107:Q901H	ENSP00000268989:Q946H	Q	+	3	2	SGSM2	2227936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.766000	0.47629	1.542000	0.49330	0.651000	0.88453	CAG		TCGA-IB-7651-01A-11D-2154-08	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	1	0	1	69	385	0	94	1	9.973817e-01	4	48	0	94	2		0	0	0	0	0	2	1	1	68	379	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGSM2	9905	broad.mit.edu	37	17	2282335	2282335	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282335C>T	ENST00000426855.2	+	22	2945	c.2770C>T	c.(2770-2772)Ctg>Ttg	p.L924L	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Silent_p.L924L|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.L969L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2			20					CGCAGAACTGCTGTATGAGGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000426855.2	0	1	hg19	CCDS45570.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	0	0	0	18	115	0	39	1	9.754366e-01	8	34	0	39	2		0	0	0	0	0	2	1	9.999867e-01	17	114	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.998011	0.990000	1	9.900000e-01	1
SGSM2	9905	broad.mit.edu	37	17	2282760	2282760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282760G>A	ENST00000426855.2	+	23	3142	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000574563.1_Intron|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.L1034L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2			20					AGGAGATCCTGCGGATTGCCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000426855.2	1	0	hg19	CCDS45570.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	0	0	1	29	134	0	42	0	9.801706e-01	1	31	0	42	2		0	0	0	0	0	2	1	1	29	133	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
PAFAH1B1	5048	broad.mit.edu	37	17	2576029	2576029	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2576029A>C	ENST00000397195.5	+	7	1100	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)			11					TAAAACTATAAAAATGTGGGA	0.463000																								0							SO:0001583	missense			ENST00000397195.5	1	1	hg19	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567297	0.86439	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.66995	-0.24;-0.24	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.83554	0.0103	10	0.87932	D	0	.	14.0218	0.64560	1.0:0.0:0.0:0.0	.	46;217	B4DF38;P43034	.;LIS1_HUMAN	Q	217;46;46	ENSP00000380378:K217Q;ENSP00000395628:K46Q	ENSP00000380377:K46Q	K	+	1	0	PAFAH1B1	2522779	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.135000	0.94478	1.953000	0.56701	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	1	0	1	50	189	0	43	1	1	133	274	0	43	2		0	0	0	0	0	2	1	1	49	186	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KSR1	8844	broad.mit.edu	37	17	25909842	25909842	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25909842T>C	ENST00000319524.6	+	4	691	c.691T>C	c.(691-693)Tca>Cca	p.S231P	KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000398988.3_Missense_Mutation_p.S94P|KSR1_ENST00000268763.6_Missense_Mutation_p.S94P			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1			28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)		CATCTCCGTGTCAGCTCTGCC	0.706000													Esophageal Squamous(88;1120 1336 6324 10502 16832)											0							SO:0001583	missense			ENST00000319524.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.00	2.106036	0.37145	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00473	7.18;7.18;7.18	5.7	5.7	0.88788	.	0.124970	0.56097	D	0.000026	T	0.00845	0.0028	L	0.46157	1.445	0.41067	D	0.985425	D	0.65815	0.995	P	0.60345	0.873	D	0.87448	0.2399	10	0.26408	T	0.33	.	14.7786	0.69749	0.0:0.0:0.0:1.0	.	229	Q8IVT5	KSR1_HUMAN	P	231;231;94;94	ENSP00000323178:S231P;ENSP00000438795:S231P;ENSP00000268763:S94P	ENSP00000268763:S94P	S	+	1	0	KSR1	22933969	1.000000	0.71417	0.998000	0.56505	0.165000	0.22458	3.373000	0.52394	2.176000	0.68965	0.374000	0.22700	TCA		TCGA-IB-7651-01A-11D-2154-08	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	36	142	0	32	0	7.313018e-01	1	11	0	32	2		0	0	0	0	0	2	1	1	36	137	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KSR1	8844	broad.mit.edu	37	17	25917918	25917918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25917918C>T	ENST00000319524.6	+	7	1128	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000398988.3_Silent_p.C239C|KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1			28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)		GCAAGCATTGCAGGTGATGGG	0.522000													Esophageal Squamous(88;1120 1336 6324 10502 16832)											0							SO:0001819	synonymous_variant			ENST00000319524.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	15.31	2.795145	0.50208	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5611	0.91100	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	.	Q	+	1	0	KSR1	22942045	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.621000	0.54210	2.647000	0.89833	0.486000	0.48141	CAG		TCGA-IB-7651-01A-11D-2154-08	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0	18	70	0	16	0	9.099223e-01	1	18	0	16	2		0	0	0	0	0	2	1	9.999882e-01	16	70	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
KSR1	8844	broad.mit.edu	37	17	25932780	25932780	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25932780G>A	ENST00000319524.6	+	15	2001	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000398988.3_Silent_p.E530E|KSR1_ENST00000268763.6_Silent_p.E530E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1			28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)		CGCGGCATGAGAACGTGGTGC	0.597000													Esophageal Squamous(88;1120 1336 6324 10502 16832)											0							SO:0001819	synonymous_variant			ENST00000319524.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.744	0.919764	0.17982	.	.	ENSG00000141068	ENST00000398988	T	0.79454	-1.27	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66019	-0.6027	7	0.18710	T	0.47	.	11.3617	0.49646	0.1457:0.0:0.8543:0.0	.	.	.	.	K	381	ENSP00000381958:E381K	ENSP00000381958:E381K	E	+	1	0	KSR1	22956907	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.664000	0.68045	0.768000	0.33290	-0.140000	0.14226	GAA		TCGA-IB-7651-01A-11D-2154-08	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	26	119	0	27	0	5.080845e-01	1	8	0	27	2		0	0	0	0	0	2	1	9.999999e-01	26	114	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
KSR1	8844	broad.mit.edu	37	17	25936261	25936261	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25936261G>T	ENST00000319524.6	+	17	2197	c.2197G>T	c.(2197-2199)Gat>Tat	p.D733Y	KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000398988.3_Missense_Mutation_p.D596Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y|KSR1_ENST00000582410.1_5'Flank			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1			28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)		CGTACACAAAGATCTCAAATC	0.537000													Esophageal Squamous(88;1120 1336 6324 10502 16832)											0							SO:0001583	missense			ENST00000319524.6	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.924694|4.924694	0.92319|0.92319	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.68903|.	-0.36;-0.36;-0.36|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91620|0.91620	0.7352|0.7352	H|H	0.99325|0.99325	4.515|4.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94688|0.94688	0.7871|0.7871	10|5	0.87932|.	D|.	0|.	.|.	19.0895|19.0895	0.93221|0.93221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	731;711|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	Y|I	733;711;596;596|446	ENSP00000323178:D733Y;ENSP00000438795:D711Y;ENSP00000268763:D596Y|.	ENSP00000268763:D596Y|.	D|R	+|+	1|2	0|0	KSR1|KSR1	22960388|22960388	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.981000|0.981000	0.71138|0.71138	9.724000|9.724000	0.98775|0.98775	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GAT|AGA		TCGA-IB-7651-01A-11D-2154-08	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0	46	237	0	57	0	8.362710e-01	1	18	0	57	2		0	0	0	0	0	2	1	1	45	230	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KSR1	8844	broad.mit.edu	37	17	25937132	25937132	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25937132C>T	ENST00000319524.6	+	18	2331	c.2331C>T	c.(2329-2331)tgC>tgT	p.C777C	KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000398988.3_Silent_p.C640C|KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000582410.1_5'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1			28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)		ACTGGCTGTGCTATCTGGCCC	0.577000											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Esophageal Squamous(88;1120 1336 6324 10502 16832)											0							SO:0001819	synonymous_variant			ENST00000319524.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	93	504	1	132	1	9.360057e-01	3	24	1	132	2		0	0	0	0	0	2	1	1	91	493	1	130	16								-3.019105	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGALS9	3965	broad.mit.edu	37	17	25970635	25970635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25970635C>T	ENST00000395473.2	+	5	1997	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9			18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)		GCCCAGGGGGCGCAGACAAAA	0.617000													Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)											0							SO:0001583	missense			ENST00000395473.2	0	1	hg19	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242970	0.39697	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000413914	T;T	0.15139	3.91;2.45	3.53	-1.16	0.09678	.	1.136550	0.06577	N	0.749601	T	0.15478	0.0373	L	0.27053	0.805	0.26432	N	0.975927	D;D	0.76494	0.999;0.998	P;P	0.51229	0.663;0.644	T	0.19712	-1.0297	10	0.62326	D	0.03	.	2.7707	0.05333	0.204:0.4368:0.0:0.3592	.	120;177	B4DWP7;O00182	.;LEG9_HUMAN	C	177;120	ENSP00000378856:R177C;ENSP00000393695:R120C	ENSP00000378856:R177C	R	+	1	0	LGALS9	22994762	0.002000	0.14202	0.773000	0.31616	0.631000	0.37964	-0.535000	0.06142	0.029000	0.15352	-0.201000	0.12746	CGC		TCGA-IB-7651-01A-11D-2154-08	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	1	0	0	27	176	0	43	1	1	90	231	0	43	2		0	0	0	0	0	2	1	9.999998e-01	22	151	0	52	2								-3.076235	1	1	121378	51	43	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999405	0.990000	1	9.900000e-01	1
NOS2	4843	broad.mit.edu	37	17	26091072	26091072	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26091072G>A	ENST00000313735.6	-	21	2760	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible			56				Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AGCTTTTGGAGCAGCAGCTGG	0.627000																								0							SO:0001583	missense			ENST00000313735.6	1	1	hg19	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199369	0.58126	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.40225	1.04	5.23	4.26	0.50523	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000004	T	0.59224	0.2178	L	0.58583	1.82	0.51012	D	0.9999	D	0.89917	1.0	D	0.97110	1.0	T	0.62243	-0.6895	10	0.87932	D	0	.	12.4192	0.55510	0.0823:0.0:0.9177:0.0	.	843	P35228	NOS2_HUMAN	F	843;804	ENSP00000327251:L843F	ENSP00000327251:L843F	L	-	1	0	NOS2	23115199	1.000000	0.71417	0.994000	0.49952	0.393000	0.30537	8.026000	0.88783	1.198000	0.43158	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	1	0	1	32	128	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	32	127	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOS2	4843	broad.mit.edu	37	17	26101354	26101354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26101354A>G	ENST00000313735.6	-	12	1638	c.1405T>C	c.(1405-1407)Tct>Cct	p.S469P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible			56				Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	ATGCTCCCAGACATGGGAGGG	0.562000																								0							SO:0001583	missense			ENST00000313735.6	0	1	hg19	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392035	0.83011	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.33216	1.42	5.67	4.57	0.56435	Nitric oxide synthase, oxygenase domain (2);	0.071079	0.64402	D	0.000020	T	0.68430	0.3000	H	0.97240	3.965	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78099	-0.2336	10	0.87932	D	0	.	12.1225	0.53900	0.8566:0.1434:0.0:0.0	.	469;469	F8WEM3;P35228	.;NOS2_HUMAN	P	469;430;469	ENSP00000327251:S469P	ENSP00000305638:S469P	S	-	1	0	NOS2	23125481	1.000000	0.71417	0.327000	0.25402	0.984000	0.73092	7.348000	0.79366	0.938000	0.37419	0.459000	0.35465	TCT		TCGA-IB-7651-01A-11D-2154-08	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	0	0	0	6	204	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.635084e-01	6	200	0	48	2								-8.110500	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.380000	0.150000	1.000000	0.330000	0.443369	0.380000	0	2.400000e-01	6.100000e-01
NOS2	4843	broad.mit.edu	37	17	26110096	26110096	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26110096C>T	ENST00000313735.6	-	6	737	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible			56				Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCTTTGTTACCGCTTCCACCC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000313735.6	1	1	hg19	CCDS11223.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	1	0	1	59	343	0	94	0	0	0	1	0	94	2		0	0	0	0	0	2	1	1	57	336	0	93	2								-2.718185	1	1	121412	3	35	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NOS2	4843	broad.mit.edu	37	17	26115921	26115921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26115921G>A	ENST00000313735.6	-	4	465	c.232C>T	c.(232-234)Cca>Tca	p.P78S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible			56				Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GAGGACAATGGGGTTGCATCC	0.537000																								0							SO:0001583	missense			ENST00000313735.6	1	1	hg19	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672902	0.29693	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01629	4.72	5.86	2.53	0.30540	.	0.329526	0.28114	N	0.016542	T	0.01695	0.0054	L	0.40543	1.245	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.17979	0.02;0.003	T	0.43605	-0.9381	10	0.36615	T	0.2	.	4.3575	0.11185	0.0824:0.1292:0.5762:0.2122	.	78;78	F8WEM3;P35228	.;NOS2_HUMAN	S	78	ENSP00000327251:P78S	ENSP00000305638:P78S	P	-	1	0	NOS2	23140048	0.965000	0.33210	0.007000	0.13788	0.017000	0.09413	1.137000	0.31479	1.489000	0.48450	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	1	0	1	140	663	0	171		0	0	0	0	171	2		0	0	0	0	0	2	1	1	139	652	0	168	2								-2.790239	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf97	400566	broad.mit.edu	37	17	263004	263004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263004C>A	ENST00000360127.6	+	2	386	c.370C>A	c.(370-372)Cct>Act	p.P124T	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97			14					CATCTTAAGTCCTTGCAAAGA	0.517000																								0							SO:0001583	missense			ENST00000360127.6	1	1	hg19	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879363	0.33162	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.48201	1.28;0.82	5.02	1.81	0.25067	.	0.568807	0.14858	N	0.294231	T	0.48960	0.1529	L	0.32530	0.975	0.54753	D	0.999982	D	0.76494	0.999	D	0.65323	0.934	T	0.40459	-0.9562	10	0.44086	T	0.13	-10.777	5.2807	0.15674	0.0:0.6416:0.1699:0.1885	.	124	Q6ZQX7-4	.	T	124;118	ENSP00000353245:P124T;ENSP00000419482:P118T	ENSP00000353245:P124T	P	+	1	0	C17orf97	263320	0.000000	0.05858	0.322000	0.25334	0.167000	0.22549	-0.432000	0.06956	0.323000	0.23307	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	1	0	0	36	384	0	85	0	5.287879e-01	1	19	0	85	2		0	0	0	0	0	2	1	1	37	377	0	85	2								-11.235780	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.730000	1.000000	1.000000	0.955862	0.990000	1	8.700000e-01	1
C17orf97	400566	broad.mit.edu	37	17	263016	263016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263016C>T	ENST00000360127.6	+	2	398	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97			14					TTGCAAAGAGCGTGGCCCGAA	0.507000																								0							SO:0001583	missense			ENST00000360127.6	0	1	hg19	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986742	0.35036	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.48836	1.38;0.8	5.02	4.04	0.47022	.	0.931283	0.08893	N	0.878365	T	0.44477	0.1295	N	0.14661	0.345	0.39043	D	0.960165	D	0.67145	0.996	P	0.55965	0.788	T	0.41945	-0.9480	10	0.66056	D	0.02	-21.7712	8.414	0.32659	0.0:0.8979:0.0:0.1021	.	128	Q6ZQX7-4	.	C	128;122	ENSP00000353245:R128C;ENSP00000419482:R122C	ENSP00000353245:R128C	R	+	1	0	C17orf97	263332	0.010000	0.17322	0.355000	0.25773	0.011000	0.07611	1.070000	0.30653	2.715000	0.92844	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	0	0	0	7	416	0	95	1	7.288577e-02	2	21	0	95	2		0	0	0	0	0	2	1	9.796161e-01	7	410	0	95	2								-6.263349	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.210000	0.090000	1.000000	0.190000	0.302623	0.210000	0	1.400000e-01	3.500000e-01
NLK	51701	broad.mit.edu	37	17	26495604	26495604	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26495604A>G	ENST00000407008.3	+	6	1686	c.968A>G	c.(967-969)gAc>gGc	p.D323G		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase			14	all_lung(13;0.000343)|Lung NSC(42;0.00184)				AATGCTATTGACATCTGGTCT	0.428000																								0							SO:0001583	missense			ENST00000407008.3	1	1	hg19	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848021	0.91277	.	.	ENSG00000087095	ENST00000407008	T	0.78816	-1.21	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94214	0.7461	10	0.87932	D	0	-8.5349	15.825	0.78698	1.0:0.0:0.0:0.0	.	323	Q9UBE8	NLK_HUMAN	G	323	ENSP00000384625:D323G	ENSP00000384625:D323G	D	+	2	0	NLK	23519731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	1	0	1	119	506	0	134	1	9.994680e-01	11	38	0	134	2		0	0	0	0	0	2	1	1	116	490	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM97	27346	broad.mit.edu	37	17	26653722	26653722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26653722C>T	ENST00000226230.6	+	3	579	c.434C>T	c.(433-435)tCt>tTt	p.S145F	TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F|TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97			6	all_lung(13;0.000238)|Lung NSC(42;0.000789)				ACCCTTGTGTCTGTCTATGCC	0.408000																								0							SO:0001583	missense			ENST00000226230.6	1	1	hg19	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267767	0.10294	.	.	ENSG00000109084	ENST00000226230;ENST00000336687	.	.	.	5.93	2.77	0.32553	.	0.293339	0.44483	N	0.000449	T	0.59797	0.2220	M	0.74647	2.275	0.26200	N	0.979468	D	0.61080	0.989	P	0.58077	0.832	T	0.54036	-0.8353	9	0.46703	T	0.11	-1.5154	10.3922	0.44179	0.0:0.6064:0.3204:0.0732	.	145	Q5BJF2	TMM97_HUMAN	F	145;38	.	ENSP00000226230:S145F	S	+	2	0	TMEM97	23677849	0.121000	0.22262	0.000000	0.03702	0.021000	0.10359	2.413000	0.44618	0.359000	0.24239	-0.175000	0.13238	TCT		TCGA-IB-7651-01A-11D-2154-08	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	1	0	1	49	186	0	46	1	9.999999e-01	24	74	0	46	2		0	0	0	0	0	2	1	1	49	183	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VTN	7448	broad.mit.edu	37	17	26695591	26695591	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695591C>A	ENST00000226218.4	-	6	1548	c.930G>T	c.(928-930)cgG>cgT	p.R310R	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin			13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			Abciximab(DB00054)	CCCAGCTGTCCCGCTGCATCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000226218.4	1	1	hg19	CCDS11229.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	0	0	1	90	344	0	99	1	9.903596e-01	2	28	0	99	2		0	0	0	0	0	2	1	1	90	342	0	97	2								-3.619160	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VTN	7448	broad.mit.edu	37	17	26695907	26695907	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695907A>G	ENST00000226218.4	-	5	1430	c.812T>C	c.(811-813)gTc>gCc	p.V271A	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin			13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			Abciximab(DB00054)	GAAGAAGTAGACCCGCTCCCG	0.582000																								0							SO:0001583	missense			ENST00000226218.4	1	1	hg19	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727973	0.48833	.	.	ENSG00000255604	ENST00000226218	T	0.02916	4.11	5.92	0.74	0.18330	Hemopexin/matrixin (2);	0.161668	0.53938	N	0.000042	T	0.02494	0.0076	L	0.28115	0.83	0.48511	D	0.999661	B	0.30793	0.295	B	0.30495	0.116	T	0.56068	-0.8040	10	0.45353	T	0.12	-21.9931	10.6541	0.45665	0.6559:0.0:0.3441:0.0	.	271	P04004	VTNC_HUMAN	A	271	ENSP00000226218:V271A	ENSP00000226218:V271A	V	-	2	0	AC002094.1	23720034	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.268000	0.33062	0.146000	0.19002	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	0	0	0	19	473	0	91	1	4.392491e-01	2	35	0	91	2		0	0	0	0	0	2	1	9.999893e-01	19	464	0	90	2								-18.225340	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.470000	0.290000	1.000000	0.450000	0.527248	0.470000	0	3.700000e-01	6.400000e-01
VTN	7448	broad.mit.edu	37	17	26696370	26696370	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26696370C>T	ENST00000226218.4	-	4	1227	c.609G>A	c.(607-609)gaG>gaA	p.E203E	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin			13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			Abciximab(DB00054)	CGATGGGGCCCTCGATGCCCC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000226218.4	0	1	hg19	CCDS11229.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	0	0	0	15	470	0	99	0	2.830742e-01	0	32	0	99	2		0	0	0	0	0	2	1	9.998561e-01	14	462	0	98	2								-3.318794	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.380000	0.210000	1.000000	0.360000	0.446036	0.380000	0	2.900000e-01	5.400000e-01
FOXN1	8456	broad.mit.edu	37	17	26851664	26851664	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26851664G>T	ENST00000226247.2	+	2	296	c.267G>T	c.(265-267)ggG>ggT	p.G89G	FOXN1_ENST00000579795.1_Silent_p.G89G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1			19	Lung NSC(42;0.00431)				CCGGCCCTGGGCCCTTCAGGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000226247.2	1	0	hg19	CCDS11232.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1	1	0	0	62	250	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	60	244	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIGS	94005	broad.mit.edu	37	17	26888486	26888486	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26888486C>A	ENST00000308360.7	-	6	1005	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PIGS_ENST00000543734.1_Missense_Mutation_p.E149D|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.E202D	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S			16	Lung NSC(42;0.00431)				TCCACTTGTCCTCTGGAAGGT	0.572000																								0							SO:0001583	missense			ENST00000308360.7	1	1	hg19	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062502	0.36373	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.45276	0.9;0.9;0.9	5.68	2.66	0.31614	.	0.475758	0.25750	N	0.028551	T	0.22282	0.0537	N	0.20685	0.6	0.27407	N	0.954689	B;B	0.15930	0.015;0.012	B;B	0.13407	0.009;0.005	T	0.14364	-1.0475	10	0.22109	T	0.4	-26.0276	4.72	0.12913	0.2364:0.5327:0.0:0.2309	.	210;202	Q96S52;Q96S52-2	PIGS_HUMAN;.	D	202;210;149	ENSP00000378755:E202D;ENSP00000309430:E210D;ENSP00000438447:E149D	ENSP00000309430:E210D	E	-	3	2	PIGS	23912613	0.957000	0.32711	1.000000	0.80357	0.996000	0.88848	0.682000	0.25335	0.356000	0.24157	-0.136000	0.14681	GAG		TCGA-IB-7651-01A-11D-2154-08	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	1	0	0	9	178	0	48	1	9.975887e-01	10	211	0	48	2		0	0	0	0	0	2	1	9.942897e-01	9	176	0	48	2								-11.660960	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.610000	0.290000	1.000000	1.000000	0.647736	0.610000	0	4.300000e-01	9.100000e-01
PIGS	94005	broad.mit.edu	37	17	26890850	26890850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26890850G>A	ENST00000308360.7	-	4	737	c.362C>T	c.(361-363)tCg>tTg	p.S121L	PIGS_ENST00000543734.1_Missense_Mutation_p.S60L|PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.S113L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S			16	Lung NSC(42;0.00431)				CACACTGCCCGATGACAGGGC	0.483000																								0							SO:0001583	missense			ENST00000308360.7	1	1	hg19	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	2.706	-0.269863	0.05716	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.41758	0.99;0.99;0.99	5.21	2.69	0.31865	.	0.519639	0.20737	N	0.086620	T	0.10895	0.0266	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20240	-1.0281	10	0.24483	T	0.36	-6.2214	3.9546	0.09383	0.6491:0.0:0.1999:0.151	.	121;113	Q96S52;Q96S52-2	PIGS_HUMAN;.	L	113;121;60	ENSP00000378755:S113L;ENSP00000309430:S121L;ENSP00000438447:S60L	ENSP00000309430:S121L	S	-	2	0	PIGS	23914977	0.000000	0.05858	0.026000	0.17262	0.181000	0.23173	0.591000	0.23969	0.732000	0.32470	-0.345000	0.07892	TCG		TCGA-IB-7651-01A-11D-2154-08	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	1	0	1	157	683	0	204	1	1	62	158	0	204	2		0	0	0	0	0	2	1	1	155	678	0	199	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPAG5	10615	broad.mit.edu	37	17	26918763	26918763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26918763G>A	ENST00000321765.5	-	4	1722	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5			43	Lung NSC(42;0.00431)				TGGGTTTCTGGGTGAGGGACA	0.537000																								0							SO:0001583	missense			ENST00000321765.5	1	1	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107023	0.20714	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	2.57	0.30868	.	0.749706	0.12505	N	0.462985	T	0.15349	0.0370	N	0.11560	0.145	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.33214	-0.9877	9	0.07990	T	0.79	4.8732	4.7754	0.13176	0.1848:0.0:0.6461:0.1691	.	464	Q96R06	SPAG5_HUMAN	S	464	.	ENSP00000323300:P464S	P	-	1	0	SPAG5	23942890	0.001000	0.12720	0.007000	0.13788	0.992000	0.81027	0.478000	0.22212	0.306000	0.22856	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	1	0	1	96	434	0	120	1	8.976668e-01	6	14	0	120	2		0	0	0	0	0	2	1	1	92	425	0	117	2								-2.989393	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0100	9703	broad.mit.edu	37	17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|RP11-192H23.4_ENST00000534850.1_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				AAATCATTTGCGCCTGCCAAA	0.562000																								0							SO:0001583	missense			ENST00000528896.2	1	1	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623061	0.66901	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27720	1.65;1.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42241	-0.9463	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	2234	Q14667	K0100_HUMAN	H	2234;2204;2234;2091	ENSP00000436773:R2234H;ENSP00000446443:R2091H	ENSP00000005905:R2234H	R	-	2	0	KIAA0100	23966216	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.627000	0.67784	2.826000	0.97356	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	0	0	1	282	1384	1	352	1	1	35	300	1	352	6		0	0	0	0	0	2	1	1	277	1345	1	349	17								-20.000000	1	0	121412	3	40	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0100	9703	broad.mit.edu	37	17	26943182	26943182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943182G>A	ENST00000528896.2	-	37	6396	c.6322C>T	c.(6322-6324)Cga>Tga	p.R2108*	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*|RP11-192H23.4_ENST00000534850.1_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				ATGGCAGCTCGCTCTTTCATC	0.478000																								0							SO:0001587	stop_gained			ENST00000528896.2	0	1	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	47	13.572001	0.99750	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.63	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4692	0.61273	0.0:0.0:0.715:0.285	.	.	.	.	X	2108;2078;2108;1965	.	ENSP00000005905:R2108X	R	-	1	2	KIAA0100	23967309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	1.333000	0.45449	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	1	47	211	0	50	1	1	18	237	0	50	2		0	0	0	0	0	2	1	1	47	206	0	49	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0100	9703	broad.mit.edu	37	17	26943464	26943464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943464C>T	ENST00000528896.2	-	36	6295	c.6221G>A	c.(6220-6222)gGg>gAg	p.G2074E	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E|RP11-192H23.4_ENST00000534850.1_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				CACACCCTTCCCAGGGCCCAG	0.512000																								0							SO:0001583	missense			ENST00000528896.2	1	1	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421244	0.83559	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.41065	1.01;1.01	6.11	6.11	0.99139	FMP27,  C-terminal (1);	0.041590	0.85682	D	0.000000	T	0.54224	0.1845	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.34453	-0.9828	10	0.05833	T	0.94	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	2074	Q14667	K0100_HUMAN	E	2074;2044;2074;1931	ENSP00000436773:G2074E;ENSP00000446443:G1931E	ENSP00000005905:G2074E	G	-	2	0	KIAA0100	23967591	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.353000	0.66034	2.906000	0.99361	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	1	110	455	0	135	1	1	21	293	0	135	2		0	0	0	0	0	2	1	1	107	441	0	134	2								-3.438015	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0100	9703	broad.mit.edu	37	17	26947532	26947532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26947532G>A	ENST00000528896.2	-	29	5433	c.5359C>T	c.(5359-5361)Cgg>Tgg	p.R1787W	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				CTCACCTTCCGCTTAGGTTCT	0.493000																								0							SO:0001583	missense			ENST00000528896.2	1	1	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328096	0.60743	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.46063	0.88;0.88	5.24	4.25	0.50352	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64300	-0.6440	10	0.72032	D	0.01	.	14.6988	0.69142	0.0:0.0:0.8534:0.1466	.	1787	Q14667	K0100_HUMAN	W	1787;1757;1787;1644	ENSP00000436773:R1787W;ENSP00000446443:R1644W	ENSP00000005905:R1787W	R	-	1	2	KIAA0100	23971659	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	4.403000	0.59729	1.188000	0.43014	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	0	14	258	0	53	1	9.992764e-01	17	212	0	53	2		0	0	0	0	0	2	1	9.997080e-01	13	249	0	52	2								-3.151044	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.640000	0.360000	1.000000	0.600000	0.672899	0.640000	0	4.800000e-01	8.900000e-01
KIAA0100	9703	broad.mit.edu	37	17	26964865	26964865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26964865G>T	ENST00000528896.2	-	14	1834	c.1760C>A	c.(1759-1761)tCt>tAt	p.S587Y	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				AACCAAGGCAGAAAGGGTAAA	0.488000																								0							SO:0001583	missense			ENST00000528896.2	1	1	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063874	0.76187	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27104	1.7;1.69	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.31138	-0.9954	10	0.72032	D	0.01	.	19.9772	0.97314	0.0:0.0:1.0:0.0	.	587	Q14667	K0100_HUMAN	Y	587;587;587;444	ENSP00000436773:S587Y;ENSP00000446443:S444Y	ENSP00000005905:S587Y	S	-	2	0	KIAA0100	23988992	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.423000	0.73361	2.724000	0.93272	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	1	71	287	0	59	1	1	12	99	0	59	2		0	0	0	0	0	2	1	1	68	277	0	59	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0100	9703	broad.mit.edu	37	17	26965068	26965068	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26965068A>G	ENST00000528896.2	-	14	1631	c.1557T>C	c.(1555-1557)gaT>gaC	p.D519D	KIAA0100_ENST00000389003.3_Silent_p.D376D|KIAA0100_ENST00000544884.1_Silent_p.D376D|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				GAAAAAGGGTATCTGACTGGG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000528896.2	0	1	hg19	CCDS32595.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	0	0	0	7	204	0	42	1	9.273508e-01	2	136	0	42	2		0	0	0	0	0	2	1	9.801344e-01	7	201	0	41	2								-9.215678	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.430000	0.180000	1.000000	0.380000	0.491008	0.430000	0	2.900000e-01	6.800000e-01
KIAA0100	9703	broad.mit.edu	37	17	26969931	26969931	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26969931A>C	ENST00000528896.2	-	5	545	c.471T>G	c.(469-471)atT>atG	p.I157M	KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100			68	Lung NSC(42;0.00431)				TACTGATCTGAATATGCCATA	0.438000																								0							SO:0001583	missense			ENST00000528896.2	1	1	hg19	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021157	0.19433	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25085	1.83;1.82	5.39	-1.97	0.07503	FMP27, N-terminal (1);	0.044276	0.85682	D	0.000000	T	0.12603	0.0306	N	0.11201	0.11	0.27554	N	0.950413	P;P;B	0.45715	0.865;0.607;0.025	P;B;B	0.46585	0.521;0.28;0.023	T	0.20974	-1.0259	10	0.36615	T	0.2	.	4.6376	0.12531	0.2117:0.1394:0.5128:0.1361	.	14;157;157	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	M	157;157;157;14	ENSP00000436773:I157M;ENSP00000446443:I14M	ENSP00000005905:I157M	I	-	3	3	KIAA0100	23994058	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	1.681000	0.37618	-0.440000	0.07211	-1.400000	0.01143	ATT		TCGA-IB-7651-01A-11D-2154-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	1	0	1	49	246	0	62	1	9.999836e-01	13	72	0	62	2		0	0	0	0	0	2	1	1	49	240	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUPT6H	6830	broad.mit.edu	37	17	27010748	27010748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010748C>T	ENST00000314616.6	+	17	2426	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	p.R715W(1)		64	Lung NSC(42;0.00431)				GGCCATCGAACGGGCTTTACA	0.498000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000314616.6	1	1	hg19	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998760	0.74818	.	.	ENSG00000109111	ENST00000314616	T	0.40756	1.02	5.39	5.39	0.77823	Tex-like domain (1);	0.060685	0.64402	D	0.000003	T	0.57740	0.2074	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.58391	0.838	T	0.53585	-0.8418	10	0.36615	T	0.2	-1.2919	19.2162	0.93780	0.0:1.0:0.0:0.0	.	715	Q7KZ85	SPT6H_HUMAN	W	715	ENSP00000319104:R715W	ENSP00000319104:R715W	R	+	1	2	SUPT6H	24034875	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.930000	0.48924	2.557000	0.86248	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	1	0	1	53	238	0	67	1	1	46	178	0	67	2		0	0	0	0	0	2	1	1	52	231	0	67	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUPT6H	6830	broad.mit.edu	37	17	27010820	27010820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010820G>A	ENST00000314616.6	+	17	2498	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)			64	Lung NSC(42;0.00431)				TGAAGCCAAGGAATATGTCAT	0.493000																								0							SO:0001583	missense			ENST00000314616.6	1	1	hg19	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960195	0.74016	.	.	ENSG00000109111	ENST00000314616	T	0.45276	0.9	5.39	5.39	0.77823	Tex-like domain (1);	0.159904	0.56097	D	0.000037	T	0.38134	0.1029	L	0.42245	1.32	0.58432	D	0.999999	B	0.31893	0.345	B	0.29353	0.101	T	0.12116	-1.0560	10	0.27082	T	0.32	-8.0924	19.2162	0.93780	0.0:0.0:1.0:0.0	.	739	Q7KZ85	SPT6H_HUMAN	K	739	ENSP00000319104:E739K	ENSP00000319104:E739K	E	+	1	0	SUPT6H	24034947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.557000	0.86248	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	1	0	1	44	145	0	29	1	1	40	126	0	29	2		0	0	0	0	0	2	1	1	44	140	0	29	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUPT6H	6830	broad.mit.edu	37	17	27022515	27022515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27022515C>T	ENST00000314616.6	+	29	4203	c.3920C>T	c.(3919-3921)gCt>gTt	p.A1307V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1307V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)			64	Lung NSC(42;0.00431)				GATGCTGAAGCTGCAGACCAC	0.552000																								0							SO:0001583	missense			ENST00000314616.6	0	1	hg19	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257120	0.80246	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.79	5.79	0.91817	.	0.149662	0.64402	D	0.000010	T	0.42404	0.1201	N	0.08118	0	0.54753	D	0.99998	B	0.12630	0.006	B	0.15484	0.013	T	0.21861	-1.0233	9	0.39692	T	0.17	-13.6067	20.0345	0.97552	0.0:1.0:0.0:0.0	.	1307	Q7KZ85	SPT6H_HUMAN	V	1307	.	ENSP00000319104:A1307V	A	+	2	0	SUPT6H	24046642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.733000	0.93635	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	0	0	0	5	199	0	69	1	9.756493e-01	13	268	0	69	2		0	0	0	0	0	2	1	9.350228e-01	5	195	0	69	2								-6.802722	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.330000	0.120000	1.000000	0.280000	0.402312	0.330000	0	2.000000e-01	5.600000e-01
SUPT6H	6830	broad.mit.edu	37	17	27027385	27027385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27027385C>T	ENST00000314616.6	+	35	4944	c.4661C>T	c.(4660-4662)gCc>gTc	p.A1554V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)			64	Lung NSC(42;0.00431)				GCTGTGAATGCCCTGCCTCAG	0.572000																								0							SO:0001583	missense			ENST00000314616.6	1	1	hg19	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.760925	0.69763	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.07	5.07	0.68467	.	0.058184	0.64402	D	0.000002	T	0.37461	0.1004	N	0.22421	0.69	0.80722	D	1	P	0.40970	0.734	B	0.31751	0.135	T	0.26326	-1.0106	9	0.31617	T	0.26	-13.4042	18.4501	0.90700	0.0:1.0:0.0:0.0	.	1554	Q7KZ85	SPT6H_HUMAN	V	1554	.	ENSP00000319104:A1554V	A	+	2	0	SUPT6H	24051512	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.209000	0.77916	2.364000	0.80123	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	1	0	1	140	617	0	162	1	1	51	179	0	162	2		0	0	0	0	0	2	1	1	139	606	0	159	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEK8	284086	broad.mit.edu	37	17	27061014	27061014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27061014T>C	ENST00000268766.6	+	2	95	c.61T>C	c.(61-63)Tgc>Cgc	p.C21R	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8			35	Lung NSC(42;0.0158)				TGTGCACCTGTGCCTGCGAAA	0.562000													NSCLC(6;19 293 14866 25253 49845)											0							SO:0001583	missense			ENST00000268766.6	1	1	hg19	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.908107	0.72868	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.25579	1.79;1.79	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.58295	-0.7661	10	0.72032	D	0.01	.	13.7609	0.62966	0.0:0.0:0.0:1.0	.	21	Q86SG6	NEK8_HUMAN	R	21	ENSP00000465859:C21R;ENSP00000268766:C21R	ENSP00000268766:C21R	C	+	1	0	NEK8	24085141	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.766000	0.85320	1.840000	0.53500	0.260000	0.18958	TGC		TCGA-IB-7651-01A-11D-2154-08	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2	0	0	0	31	152	0	44	1	4.749542e-01	4	5	0	44	2		0	0	0	0	0	2	1	1	30	151	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
NEK8	284086	broad.mit.edu	37	17	27067558	27067558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27067558C>T	ENST00000268766.6	+	11	1529	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	AC010761.6_ENST00000582536.1_RNA|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8			35	Lung NSC(42;0.0158)				GGAAGCTCAGCGAGTTGTATG	0.572000													NSCLC(6;19 293 14866 25253 49845)											0							SO:0001587	stop_gained			ENST00000268766.6	0	1	hg19	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219461	0.95139	.	.	ENSG00000160602	ENST00000268766	.	.	.	5.56	-1.1	0.09872	.	0.051240	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.429	0.44395	0.6412:0.2843:0.0:0.0745	.	.	.	.	X	499	.	ENSP00000268766:R499X	R	+	1	2	NEK8	24091685	0.961000	0.32948	0.929000	0.37066	0.977000	0.68977	0.124000	0.15728	-0.021000	0.14009	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2	1	0	0	43	546	0	98	0	3.904068e-01	0	17	0	98	2		0	0	0	0	0	2	1	1	42	531	0	97	2								-10.056580	1	1	121412	3	35	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.880000	0.640000	1.000000	1.000000	0.878198	0.880000	1	7.500000e-01	1
TRAF4	9618	broad.mit.edu	37	17	27071139	27071139	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27071139C>T	ENST00000262395.5	+	1	138	c.9C>T	c.(7-9)ggC>ggT	p.G3G	TRAF4_ENST00000444415.3_Silent_p.G3G|TRAF4_ENST00000262396.6_Silent_p.G3G|AC010761.6_ENST00000582536.1_RNA|AC010761.9_ENST00000577325.1_RNA|AC010761.6_ENST00000584779.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4			10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		CCATGCCTGGCTTCGACTACA	0.746000																								0							SO:0001819	synonymous_variant			ENST00000262395.5	1	1	hg19	CCDS11243.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	1	0	0	19	99	0	23	1	9.963321e-01	29	22	0	23	2		0	0	0	0	0	2	1	9.999944e-01	18	99	0	23	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999694	0.990000	1	9.900000e-01	1
TRAF4	9618	broad.mit.edu	37	17	27075073	27075073	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27075073C>T	ENST00000262395.5	+	4	468	c.339C>T	c.(337-339)tgC>tgT	p.C113C	TRAF4_ENST00000444415.3_Silent_p.C113C|TRAF4_ENST00000262396.6_Silent_p.C113C|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4			10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		TCATTCCCTGCCCTAATCGCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000262395.5	1	1	hg19	CCDS11243.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	1	0	0	75	300	0	92	1	1	71	120	0	92	2		0	0	0	0	0	2	1	1	71	294	0	91	2								-20.000000	1	1	121410	1	30	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAF4	9618	broad.mit.edu	37	17	27076400	27076400	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27076400G>A	ENST00000262395.5	+	7	1347	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	TRAF4_ENST00000444415.3_Intron|TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4			10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		ACGTCACTGAGACCTTCCACC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000262395.5	1	1	hg19	CCDS11243.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	1	0	1	64	259	0	45	1	1	133	178	0	45	2		0	0	0	0	0	2	1	1	62	253	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERAL1	26284	broad.mit.edu	37	17	27185169	27185169	+	Missense_Mutation	SNP	A	A	G	rs139024598	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27185169A>G	ENST00000254928.5	+	5	639	c.542A>G	c.(541-543)cAc>cGc	p.H181R	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1			11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		CTCAGGCATCACCTGGAGCTC	0.478000																								0							SO:0001583	missense			ENST00000254928.5	1	1	hg19	CCDS11244.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	A	12.25	1.880780	0.33255	0.004993	0.0	ENSG00000132591	ENST00000254928;ENST00000412138	D	0.95272	-3.66	5.8	5.8	0.92144	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.533866	0.24014	N	0.042344	D	0.83617	0.5293	N	0.11131	0.1	0.43267	D	0.99521	B	0.32128	0.357	B	0.34590	0.186	D	0.84150	0.0422	10	0.07325	T	0.83	-4.852	14.9742	0.71257	1.0:0.0:0.0:0.0	.	181	O75616	ERAL1_HUMAN	R	181;121	ENSP00000254928:H181R	ENSP00000254928:H181R	H	+	2	0	ERAL1	24209295	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	7.566000	0.82347	2.224000	0.72417	0.533000	0.62120	CAC		TCGA-IB-7651-01A-11D-2154-08	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2	1	0	1	52	301	0	80	1	9.999997e-01	47	84	0	80	2		0	0	0	0	0	2	1	1	52	295	0	79	2								-5.534402	1	1	121412	46	48	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FLOT2	2319	broad.mit.edu	37	17	27207787	27207787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27207787G>A	ENST00000394908.4	-	10	1296	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	FLOT2_ENST00000394906.2_Silent_p.L453L|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.L398L	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2			11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		TCGGCCAGCAGTCGGTTCACT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000394908.4	1	1	hg19	CCDS11245.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	1	0	1	106	454	0	116	1	1	51	221	0	116	2		0	0	0	0	0	2	1	1	104	443	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLOT2	2319	broad.mit.edu	37	17	27208313	27208313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27208313G>A	ENST00000394908.4	-	9	1099	c.995C>T	c.(994-996)gCg>gTg	p.A332V	FLOT2_ENST00000394906.2_Missense_Mutation_p.A387V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2			11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		CTTGCCCATCGCCTCGATGAC	0.622000																								0							SO:0001583	missense			ENST00000394908.4	1	1	hg19	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	G	35	5.590102	0.96590	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.35421	1.31;1.31	5.77	5.77	0.91146	.	0.047985	0.85682	D	0.000000	T	0.46776	0.1410	M	0.80982	2.52	0.80722	D	1	P	0.48162	0.906	B	0.41412	0.356	T	0.54906	-0.8223	10	0.54805	T	0.06	-27.4188	18.9843	0.92764	0.0:0.0:1.0:0.0	.	332	Q14254	FLOT2_HUMAN	V	387;332	ENSP00000378366:A387V;ENSP00000378368:A332V	ENSP00000378366:A387V	A	-	2	0	FLOT2	24232439	1.000000	0.71417	0.968000	0.41197	0.922000	0.55478	9.753000	0.98904	2.744000	0.94065	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	1	0	1	95	419	0	88	1	1	111	273	0	88	2		0	0	0	0	0	2	1	1	93	406	1	87	19								-20.000000	1	1	121070	5	37	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHRS13	147015	broad.mit.edu	37	17	27225599	27225599	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27225599C>T	ENST00000378895.4	-	5	1120	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA|FLOT2_ENST00000394906.2_5'Flank|FLOT2_ENST00000394908.4_5'Flank|FLOT2_ENST00000577789.1_5'Flank|DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.A282T|FLOT2_ENST00000585169.1_5'Flank	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13			9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		GAAGATGGGGCCTCTGAGTCC	0.612000																								0							SO:0001583	missense			ENST00000378895.4	1	1	hg19	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	C	8.772	0.926259	0.18056	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	T;T;D	0.82893	-1.45;-0.98;-1.66	4.99	-1.04	0.10068	.	0.990667	0.08205	N	0.981575	T	0.66886	0.2835	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.48592	-0.9022	10	0.22706	T	0.39	.	4.0285	0.09698	0.1651:0.439:0.0:0.3959	.	251;332	B4DJC5;Q6UX07	.;DHR13_HUMAN	T	332;282;251	ENSP00000368173:A332T;ENSP00000378361:A282T;ENSP00000412826:A251T	ENSP00000368173:A332T	A	-	1	0	DHRS13	24249725	0.001000	0.12720	0.252000	0.24328	0.120000	0.20174	-0.826000	0.04429	-0.020000	0.14032	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	1	0	1	17	77	0	17	1	9.980918e-01	22	29	0	17	2		0	0	0	0	0	2	1	9.999792e-01	16	77	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999813	0.990000	1	9.900000e-01	1
DHRS13	147015	broad.mit.edu	37	17	27228272	27228272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228272G>A	ENST00000378895.4	-	4	544	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.R90W	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13			9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		TGGTTCACCCGAAGCAGCAGG	0.602000																								0							SO:0001583	missense			ENST00000378895.4	1	1	hg19	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386410	0.82902	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.90133	-2.62;-2.62;-2.62	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.118882	0.56097	D	0.000022	D	0.94255	0.8155	M	0.68317	2.08	0.41278	D	0.986899	D;D	0.89917	1.0;1.0	D;D	0.73708	0.967;0.981	D	0.94650	0.7838	10	0.87932	D	0	.	14.359	0.66757	0.0:0.2636:0.7364:0.0	.	59;140	B4DJC5;Q6UX07	.;DHR13_HUMAN	W	140;90;59	ENSP00000368173:R140W;ENSP00000378361:R90W;ENSP00000412826:R59W	ENSP00000368173:R140W	R	-	1	2	DHRS13	24252398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.532000	0.67154	2.625000	0.88918	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	1	0	1	88	438	0	105	1	9.872979e-01	11	25	0	105	2		0	0	0	0	0	2	1	1	88	435	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHRS13	147015	broad.mit.edu	37	17	27228610	27228610	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228610A>C	ENST00000378895.4	-	3	397	c.271T>G	c.(271-273)Ttc>Gtc	p.F91V	RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Intron|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.F41V	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13			9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		AAGGCCATGAAGATGACCTCA	0.587000																								0							SO:0001583	missense			ENST00000378895.4	1	1	hg19	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185176	0.57909	.	.	ENSG00000167536	ENST00000378895;ENST00000394901	D;D	0.86164	-2.08;-2.08	5.6	5.6	0.85130	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	N	0.03917	-0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78785	-0.2068	10	0.05351	T	0.99	.	14.9612	0.71158	1.0:0.0:0.0:0.0	.	91	Q6UX07	DHR13_HUMAN	V	91;41	ENSP00000368173:F91V;ENSP00000378361:F41V	ENSP00000368173:F91V	F	-	1	0	DHRS13	24252736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.676000	0.91199	2.134000	0.65973	0.454000	0.30748	TTC		TCGA-IB-7651-01A-11D-2154-08	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	1	0	1	65	276	0	85	1	8.601512e-01	3	14	0	85	2		0	0	0	0	0	2	1	1	64	273	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF12	57649	broad.mit.edu	37	17	27233281	27233281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27233281G>T	ENST00000332830.4	-	15	3745	c.2935C>A	c.(2935-2937)Ctg>Atg	p.L979M	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12			30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		CCATCCTGCAGCAGGCTGGCA	0.597000																								0							SO:0001583	missense			ENST00000332830.4	1	1	hg19	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	g	11.02	1.517194	0.27123	.	.	ENSG00000109118	ENST00000332830	D	0.94723	-3.5	5.28	2.04	0.26737	.	0.360301	0.26383	N	0.024681	D	0.88429	0.6434	L	0.40543	1.245	0.80722	D	1	P;P	0.41041	0.736;0.736	B;B	0.36186	0.219;0.219	D	0.84023	0.0355	10	0.51188	T	0.08	-6.6244	5.9949	0.19489	0.1811:0.2947:0.5242:0.0	.	961;979	B4DFE2;Q96QT6	.;PHF12_HUMAN	M	979	ENSP00000329933:L979M	ENSP00000329933:L979M	L	-	1	2	PHF12	24257407	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.876000	0.48498	0.631000	0.30412	0.651000	0.88453	CTG		TCGA-IB-7651-01A-11D-2154-08	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	1	0	1	50	211	0	47	1	1	19	98	0	47	2		0	0	0	0	0	2	1	1	49	208	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF12	57649	broad.mit.edu	37	17	27238239	27238239	+	Silent	SNP	G	G	A	rs143319936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27238239G>A	ENST00000332830.4	-	10	2916	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.P702P	NM_001033561.1	NP_001028733.1			PHD finger protein 12			30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		ATAACGTGCCGGGGCTGACCT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000332830.4	1	1	hg19	CCDS32598.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	1	0	1	51	203	0	46	1	1	16	111	0	46	2		0	0	0	0	0	2	1	1	50	200	0	46	2								-3.352540	1	1	121412	5	39	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEZ6	124925	broad.mit.edu	37	17	27283229	27283229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27283229T>C	ENST00000317338.12	-	16	3328	c.2900A>G	c.(2899-2901)tAc>tGc	p.Y967C	SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C|SEZ6_ENST00000335960.6_Silent_p.L499L|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)			29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		AATGCGGTTGTAggggcgggg	0.577000																								0							SO:0001583	missense			ENST00000317338.12	1	1	hg19	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177799	0.57692	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632	T	0.42131	0.98	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.905	T	0.71702	-0.4513	10	0.87932	D	0	.	14.3395	0.66617	0.0:0.0:0.0:1.0	.	967;967	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	C	967;967;842;84	ENSP00000353440:Y967C	ENSP00000312942:Y842C	Y	-	2	0	SEZ6	24307355	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	4.466000	0.60148	2.055000	0.61198	0.402000	0.26972	TAC		TCGA-IB-7651-01A-11D-2154-08	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3	1	0	0	20	70	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999969e-01	19	67	0	16	2								-3.538670	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
MYO18A	399687	broad.mit.edu	37	17	27421850	27421850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27421850C>T	ENST00000527372.1	-	30	4708	c.4528G>A	c.(4528-4530)Gca>Aca	p.A1510T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA			36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		GTGAACCCTGCAATGTCCATG	0.552000													Esophageal Squamous(182;472 2015 7001 15270 22562)											0							SO:0001583	missense			ENST00000527372.1	1	1	hg19	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232462	0.39498	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.88	4.89	0.63831	Myosin tail (1);	0.187777	0.64402	D	0.000018	T	0.27933	0.0688	N	0.25647	0.755	0.33240	D	0.557108	B;B;B;B	0.20052	0.041;0.01;0.01;0.016	B;B;B;B	0.19946	0.016;0.011;0.007;0.027	T	0.33650	-0.9860	10	0.19590	T	0.45	.	9.5676	0.39409	0.1432:0.7866:0.0:0.0702	.	1122;1510;1510;1510	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	T	1510;1510;1510;1510;1510;406;406;1122	ENSP00000346291:A1510T;ENSP00000435932:A1510T;ENSP00000434228:A1510T;ENSP00000437073:A1510T	ENSP00000346291:A1510T	A	-	1	0	MYO18A	24445976	0.195000	0.23338	0.869000	0.34112	0.993000	0.82548	0.897000	0.28390	1.452000	0.47756	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	1	0	1	106	383	0	100	1	1	46	131	0	100	2		0	0	0	0	0	2	1	1	104	378	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO18A	399687	broad.mit.edu	37	17	27423801	27423801	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27423801C>T	ENST00000527372.1	-	28	4543	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA			36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		TTCTCCAGTTCGTGGTTGCGG	0.647000													Esophageal Squamous(182;472 2015 7001 15270 22562)											0							SO:0001583	missense			ENST00000527372.1	1	1	hg19	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830253	0.91036	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.53	5.53	0.82687	Myosin tail (1);	0.043406	0.85682	D	0.000000	T	0.47358	0.1441	L	0.58810	1.83	0.53688	D	0.999975	D;P;P;P;D	0.63046	0.992;0.948;0.948;0.948;0.967	P;B;B;B;B	0.54270	0.747;0.176;0.24;0.176;0.353	T	0.40515	-0.9559	10	0.54805	T	0.06	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1124;1067;1455;1455;1455	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1455;1455;1455;1455;1455;351;351;1067	ENSP00000346291:E1455K;ENSP00000435932:E1455K;ENSP00000434228:E1455K;ENSP00000437073:E1455K	ENSP00000346291:E1455K	E	-	1	0	MYO18A	24447927	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.453000	0.80700	2.606000	0.88127	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	1	0	1	13	65	0	13	1	9.999998e-01	56	135	0	13	2		0	0	0	0	0	2	1	9.996638e-01	13	64	0	13	2								-19.999250	1	1	120924	1	17	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.998771	0.990000	1	9.900000e-01	1
MYO18A	399687	broad.mit.edu	37	17	27430619	27430619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27430619G>A	ENST00000527372.1	-	21	3685	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA			36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		CAACTCACCCGGCTCAGGCCC	0.647000													Esophageal Squamous(182;472 2015 7001 15270 22562)											0							SO:0001583	missense			ENST00000527372.1	1	1	hg19	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387448	0.82902	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.29	5.29	0.74685	Myosin head, motor domain (2);	0.101322	0.64402	D	0.000002	D	0.92492	0.7616	L	0.52011	1.625	0.44337	D	0.997222	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73380	0.946;0.95;0.96;0.942;0.98	D	0.93184	0.6577	10	0.87932	D	0	.	15.8522	0.78940	0.0:0.0:1.0:0.0	.	838;781;1169;1169;1169	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	W	1169;1169;1169;1169;1169;65;65;781	ENSP00000346291:R1169W;ENSP00000435932:R1169W;ENSP00000434228:R1169W;ENSP00000437073:R1169W	ENSP00000346291:R1169W	R	-	1	2	MYO18A	24454745	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.168000	0.71908	2.464000	0.83262	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	1	0	1	51	194	0	64	1	1	37	83	0	64	2		0	0	0	0	0	2	1	1	50	189	0	61	2								-3.596322	1	1	121004	1	29	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO18A	399687	broad.mit.edu	37	17	27448960	27448960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27448960G>T	ENST00000527372.1	-	4	1283	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA			36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		GAGCTCCTCAGATTTGAGTTG	0.592000													Esophageal Squamous(182;472 2015 7001 15270 22562)											0							SO:0001583	missense			ENST00000527372.1	1	1	hg19	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221731	0.79464	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	D;D;D;D	0.89123	-2.36;-2.47;-2.36;-2.36	5.64	5.64	0.86602	.	0.052624	0.85682	D	0.000000	D	0.87748	0.6255	L	0.40543	1.245	0.48632	D	0.999683	P;D;D;D	0.54964	0.837;0.969;0.969;0.958	P;P;P;B	0.46110	0.504;0.461;0.461;0.362	D	0.89266	0.3601	10	0.87932	D	0	.	18.4752	0.90790	0.0:0.0:1.0:0.0	.	37;368;368;368	Q92614-2;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	Y	368;368;368;368;368;48	ENSP00000346291:S368Y;ENSP00000435932:S368Y;ENSP00000434228:S368Y;ENSP00000437073:S368Y	ENSP00000346291:S368Y	S	-	2	0	MYO18A	24473086	1.000000	0.71417	0.929000	0.37066	0.963000	0.63663	5.170000	0.64990	2.655000	0.90218	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	1	0	1	35	379	0	97	1	9.973705e-01	14	86	0	97	2		0	0	0	0	0	2	1	1	34	374	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.720000	1.000000	1.000000	0.949495	0.990000	1	8.600000e-01	1
MYO18A	399687	broad.mit.edu	37	17	27493855	27493855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27493855C>A	ENST00000527372.1	-	2	284	c.104G>T	c.(103-105)aGc>aTc	p.S35I	MYO18A_ENST00000533112.1_Missense_Mutation_p.S35I|MYO18A_ENST00000531253.1_Missense_Mutation_p.S35I|MYO18A_ENST00000354329.4_Missense_Mutation_p.S35I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA			36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		CTCCTCCAGGCTCCGAAGCTC	0.537000													Esophageal Squamous(182;472 2015 7001 15270 22562)											0							SO:0001583	missense			ENST00000527372.1	0	1	hg19	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325852	0.60743	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.89343	-2.39;-2.5;-2.39;-2.39	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.29908	0.895	0.47374	D	0.9994	P;D;D	0.56746	0.944;0.977;0.961	P;P;P	0.54100	0.66;0.742;0.556	D	0.90440	0.4431	10	0.72032	D	0.01	.	17.9578	0.89075	0.0:1.0:0.0:0.0	.	35;35;35	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	I	35	ENSP00000346291:S35I;ENSP00000435932:S35I;ENSP00000434228:S35I;ENSP00000437073:S35I	ENSP00000346291:S35I	S	-	2	0	MYO18A	24517981	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.488000	0.66869	2.578000	0.87016	0.467000	0.42956	AGC		TCGA-IB-7651-01A-11D-2154-08	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	0	0	1	12	43	0	10	1	9.999695e-01	27	55	0	10	2		0	0	0	0	0	2	1	9.993391e-01	11	42	0	10	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999651	0.990000	1	9.900000e-01	1
TAOK1	57551	broad.mit.edu	37	17	27816730	27816730	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27816730A>G	ENST00000261716.3	+	9	1223	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1			28			Colorectal(6;0.198)		AGTGCCTTATATCACATAGCC	0.348000																								0							SO:0001583	missense			ENST00000261716.3	1	1	hg19	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483511	0.84854	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.85629	-2.01;-2.01	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.79784	0.993;0.931;0.992	D	0.91184	0.4978	10	0.87932	D	0	.	15.7746	0.78204	1.0:0.0:0.0:0.0	.	235;61;235	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	C	235	ENSP00000261716:Y235C;ENSP00000438819:Y235C	ENSP00000261716:Y235C	Y	+	2	0	TAOK1	24840856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.118000	0.64928	0.383000	0.25322	TAT		TCGA-IB-7651-01A-11D-2154-08	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	1	0	1	82	435	0	88	1	9.984366e-01	3	50	0	88	2		0	0	0	0	0	2	1	1	81	429	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAOK1	57551	broad.mit.edu	37	17	27849349	27849349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27849349C>T	ENST00000261716.3	+	17	2479	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1			28			Colorectal(6;0.198)		CATGCTACTCCGACAGCATGA	0.423000																								0							SO:0001587	stop_gained			ENST00000261716.3	0	1	hg19	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	42	9.535808	0.99198	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.96	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3638	0.83307	0.133:0.867:0.0:0.0	.	.	.	.	X	654	.	ENSP00000261716:R654X	R	+	1	2	TAOK1	24873475	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	3.231000	0.51294	1.486000	0.48398	0.643000	0.83706	CGA		TCGA-IB-7651-01A-11D-2154-08	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	1	0	1	64	348	0	69	1	9.997987e-01	2	68	0	69	2		0	0	0	0	0	2	1	1	63	342	0	68	2								-2.510795	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD15	116236	broad.mit.edu	37	17	27889827	27889827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27889827G>A	ENST00000307201.4	-	2	1329	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15			10					CCTCCGTGGCGACTGAGCAGG	0.602000																								0							SO:0001583	missense			ENST00000307201.4	1	1	hg19	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174694	0.57692	.	.	ENSG00000168792	ENST00000307201	T	0.67698	-0.28	5.84	3.81	0.43845	.	0.930570	0.09131	N	0.844335	T	0.66626	0.2808	N	0.22421	0.69	0.09310	N	1	D	0.57571	0.98	P	0.53722	0.733	T	0.58994	-0.7537	10	0.51188	T	0.08	-17.9113	14.2909	0.66278	0.0:0.0:0.7297:0.2703	.	387	Q6UXT9	ABH15_HUMAN	C	387	ENSP00000302657:R387C	ENSP00000302657:R387C	R	-	1	0	ABHD15	24913953	0.052000	0.20516	0.641000	0.29422	0.954000	0.61252	2.244000	0.43124	0.789000	0.33779	-0.182000	0.12963	CGC		TCGA-IB-7651-01A-11D-2154-08	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	1	0	1	49	335	0	65	1	9.998509e-01	23	67	0	65	2		0	0	0	0	0	2	1	1	48	325	0	65	2								-3.318844	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
ABHD15	116236	broad.mit.edu	37	17	27893616	27893616	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27893616G>T	ENST00000307201.4	-	1	539	c.369C>A	c.(367-369)gcC>gcA	p.A123A	TP53I13_ENST00000301057.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_Intron|RP11-68I3.4_ENST00000579050.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15			10					GGTACTCCCGGGCCAGCTCAG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000307201.4	1	1	hg19	CCDS32602.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	1	0	0	31	156	0	37	1	9.281178e-01	12	13	0	37	2		0	0	0	0	0	2	1	1	31	156	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
TP53I13	90313	broad.mit.edu	37	17	27899263	27899263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27899263G>T	ENST00000301057.7	+	6	732	c.617G>T	c.(616-618)aGg>aTg	p.R206M	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13			4					AAGAGGCGGAGGCTGCGGGCT	0.662000																								0							SO:0001583	missense			ENST00000301057.7	1	1	hg19	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696978	0.68386	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	3.94	0.45596	.	0.273278	0.28414	N	0.015435	T	0.25975	0.0633	N	0.22421	0.69	0.23411	N	0.997732	P	0.45827	0.867	B	0.41764	0.366	T	0.13953	-1.0490	9	0.52906	T	0.07	-15.1754	11.6787	0.51444	0.0:0.0:1.0:0.0	.	206	Q8NBR0	P5I13_HUMAN	M	206	.	ENSP00000301057:R206M	R	+	2	0	TP53I13	24923389	0.185000	0.23213	0.999000	0.59377	0.241000	0.25554	0.688000	0.25422	2.199000	0.70637	0.462000	0.41574	AGG		TCGA-IB-7651-01A-11D-2154-08	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	1	0	1	48	214	0	44	1	1	82	155	0	44	2		0	0	0	0	0	2	1	1	48	214	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIT1	28964	broad.mit.edu	37	17	27909775	27909775	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27909775A>C	ENST00000225394.3	-	4	594	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	GIT1_ENST00000394869.3_Missense_Mutation_p.F116V|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V|GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1			9					TTGTGCACAAATGCCAGCATC	0.587000													Colon(81;41 1719 20078 35068)											0							SO:0001583	missense			ENST00000225394.3	1	1	hg19	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750783	0.89753	.	.	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.50813	0.73;0.73	4.48	4.48	0.54585	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.69078	0.971;0.996;0.997;0.997	D;D;D;D	0.80764	0.951;0.991;0.994;0.981	D	0.84535	0.0635	10	0.87932	D	0	.	13.1832	0.59666	1.0:0.0:0.0:0.0	.	120;116;116;116	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	V	116	ENSP00000225394:F116V;ENSP00000378338:F116V	ENSP00000225394:F116V	F	-	1	0	GIT1	24933901	1.000000	0.71417	0.908000	0.35775	0.983000	0.72400	9.087000	0.94110	2.022000	0.59522	0.454000	0.30748	TTT		TCGA-IB-7651-01A-11D-2154-08	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	1	0	1	58	204	0	42	1	1	48	110	0	42	2		0	0	0	0	0	2	1	1	58	202	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIT1	28964	broad.mit.edu	37	17	27910532	27910532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27910532C>T	ENST00000225394.3	-	2	403	c.155G>A	c.(154-156)cGc>cAc	p.R52H	GIT1_ENST00000394869.3_Missense_Mutation_p.R52H|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H|GIT1_ENST00000581348.1_Missense_Mutation_p.R52H|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1			9					GGCGCTGTGGCGAAGGTGCTT	0.642000													Colon(81;41 1719 20078 35068)											0							SO:0001583	missense			ENST00000225394.3	1	1	hg19	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886017	0.72410	0.0	1.16E-4	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.68479	-0.33;-0.33	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	N	0.16201	0.385	0.80722	D	1	P;B;P;B	0.34662	0.462;0.407;0.462;0.068	B;B;B;B	0.29785	0.107;0.062;0.103;0.041	T	0.48317	-0.9046	10	0.25751	T	0.34	.	17.2819	0.87131	0.0:1.0:0.0:0.0	.	56;52;52;52	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	52	ENSP00000225394:R52H;ENSP00000378338:R52H	ENSP00000225394:R52H	R	-	2	0	GIT1	24934658	0.978000	0.34361	1.000000	0.80357	0.992000	0.81027	2.532000	0.45659	2.688000	0.91661	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	1	0	1	32	139	0	38	1	9.999991e-01	34	68	0	38	2		0	0	0	0	0	2	1	1	32	135	0	37	2								-3.659665	1	1	121260	10	40	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ANKRD13B	124930	broad.mit.edu	37	17	27939445	27939445	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27939445C>T	ENST00000394859.3	+	12	1438	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B			16					ACATCCTCAACGCCCGCATCA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000394859.3	0	1	hg19	CCDS11251.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	1	0	1	13	115	0	20	1	8.984038e-01	7	31	0	20	2		0	0	0	0	0	2	1	9.995861e-01	13	113	0	20	2								-19.670470	1	1	121358	1	23	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.700000	1.000000	1.000000	0.969034	0.990000	1	9.400000e-01	1
EFCAB5	374786	broad.mit.edu	37	17	28380798	28380798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380798G>A	ENST00000394835.3	+	10	2018	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5			43					CAAGGGTCACGCAGAGAGTCT	0.488000																								0							SO:0001583	missense			ENST00000394835.3	1	1	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881093	0.33255	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.78	-9.32	0.00643	.	1.031300	0.07709	N	0.941752	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B	0.18610	0.017;0.029;0.011;0.029;0.001;0.006	B;B;B;B;B;B	0.12837	0.003;0.008;0.004;0.005;0.0;0.003	T	0.15378	-1.0439	10	0.15499	T	0.54	5.8403	2.6649	0.05041	0.4122:0.0884:0.3233:0.1761	.	553;553;609;609;609;609	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	H	553;352;266;609;609;609;609;553;415	ENSP00000440619:R553H;ENSP00000445575:R266H;ENSP00000378312:R609H;ENSP00000322003:R609H;ENSP00000378309:R609H;ENSP00000368012:R609H;ENSP00000417009:R415H	ENSP00000322003:R609H	R	+	2	0	EFCAB5	25404924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.602000	0.00891	-1.290000	0.02372	-1.561000	0.00884	CGC		TCGA-IB-7651-01A-11D-2154-08	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1	104	544	0	175	0	0	0	1	0	175	2		0	0	0	0	0	2	1	1	103	530	0	173	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB5	374786	broad.mit.edu	37	17	28380972	28380972	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380972T>C	ENST00000394835.3	+	10	2192	c.2000T>C	c.(1999-2001)aTa>aCa	p.I667T	EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5			43					CAAGAAGACATAGGCTCAACT	0.378000																								0							SO:0001583	missense			ENST00000394835.3	1	1	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	4.950	0.176404	0.09443	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.42513	1.97;0.97;2.97;2.97;2.29;1.97;2.97	5.14	-5.04	0.02964	.	2.425250	0.01699	N	0.027091	T	0.13586	0.0329	N	0.01705	-0.755	0.09310	N	1	B;B;B;B;B;B	0.17268	0.012;0.021;0.001;0.002;0.007;0.001	B;B;B;B;B;B	0.10450	0.004;0.003;0.001;0.002;0.005;0.001	T	0.10894	-1.0610	10	0.11794	T	0.64	3.3471	2.0208	0.03509	0.1158:0.2281:0.3554:0.3007	.	611;611;667;667;667;667	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	T	611;410;324;667;667;667;667;611;473	ENSP00000440619:I611T;ENSP00000445575:I324T;ENSP00000378312:I667T;ENSP00000322003:I667T;ENSP00000378309:I667T;ENSP00000368012:I667T;ENSP00000417009:I473T	ENSP00000322003:I667T	I	+	2	0	EFCAB5	25405098	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.336000	0.01105	-0.899000	0.03901	0.524000	0.50904	ATA		TCGA-IB-7651-01A-11D-2154-08	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	0	15	177	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	9.998788e-01	15	174	0	53	2								-19.824530	1	1	120818	1	33	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.960000	0.560000	1.000000	1.000000	0.896154	0.960000	1	7.300000e-01	1
EFCAB5	374786	broad.mit.edu	37	17	28386587	28386587	+	Nonsense_Mutation	SNP	C	C	T	rs112900293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386587C>T	ENST00000394835.3	+	14	2797	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5			43					TTTCCAAGTCCGACAGAGGCT	0.418000																								0							SO:0001587	stop_gained			ENST00000394835.3	0	1	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	38	6.910587	0.97928	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	.	.	.	5.39	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7418	13.2178	0.59871	0.1606:0.8394:0.0:0.0	.	.	.	.	X	869	.	ENSP00000368012:R869X	R	+	1	2	EFCAB5	25410713	0.808000	0.29022	0.089000	0.20774	0.072000	0.16883	1.723000	0.38053	1.246000	0.43901	-0.538000	0.04264	CGA		TCGA-IB-7651-01A-11D-2154-08	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1	87	376	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	86	375	0	97	2								-2.779764	1	1	120802	6	40	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB5	374786	broad.mit.edu	37	17	28386688	28386688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386688G>T	ENST00000394835.3	+	14	2898	c.2706G>T	c.(2704-2706)aaG>aaT	p.K902N	RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5			43					ACACATACAAGGAGGGAATGG	0.388000																								0							SO:0001583	missense			ENST00000394835.3	1	1	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424923	0.62733	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	T;T;T	0.21031	2.03;2.03;2.03	5.35	3.33	0.38152	EF-hand-like domain (1);	.	.	.	.	T	0.43567	0.1253	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41752	-0.9491	9	0.87932	D	0	-17.5267	10.4304	0.44405	0.1645:0.0:0.8355:0.0	.	902;902	B5MEA3;A4FU69	.;EFCB5_HUMAN	N	902	ENSP00000378312:K902N;ENSP00000378309:K902N;ENSP00000368012:K902N	ENSP00000368012:K902N	K	+	3	2	EFCAB5	25410814	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.089000	0.50183	1.259000	0.44117	0.449000	0.29647	AAG		TCGA-IB-7651-01A-11D-2154-08	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1	53	186	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	51	183	0	59	2								-3.608967	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB5	374786	broad.mit.edu	37	17	28417522	28417522	+	Missense_Mutation	SNP	G	G	A	rs146481233	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28417522G>A	ENST00000394835.3	+	20	3959	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5			43					GTTCCACTTCGTGAGAGAACA	0.393000																								0							SO:0001583	missense			ENST00000394835.3	1	1	hg19	CCDS11254.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.93	3.258665	0.59321	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.24538	1.85;1.92;1.91	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000071	T	0.46328	0.1387	M	0.74258	2.255	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59643	0.861;0.861	T	0.41910	-0.9482	10	0.51188	T	0.08	-12.5922	13.5817	0.61907	0.0768:0.0:0.9232:0.0	.	1132;1256	E7EVS9;A4FU69	.;EFCB5_HUMAN	H	1256;1132;938	ENSP00000378312:R1256H;ENSP00000322003:R1132H;ENSP00000417009:R938H	ENSP00000322003:R1132H	R	+	2	0	EFCAB5	25441648	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.360000	0.59455	2.535000	0.85469	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1	110	415	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1	106	409	0	121	2								-20.000000	1	1	120806	2	36	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB5	374786	broad.mit.edu	37	17	28435016	28435016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28435016C>T	ENST00000394835.3	+	23	4678	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S	EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	p.P1496A(1)		43					TGCAAAAATGCCAGGGGAAGG	0.353000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000394835.3	1	1	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565278	0.65651	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.17213	3.03;3.02;2.29;3.03	4.69	2.08	0.27032	.	0.142981	0.31648	N	0.007295	T	0.14399	0.0348	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24368	0.102;0.046;0.1	B;B;B	0.30105	0.066;0.038;0.111	T	0.15636	-1.0430	10	0.38643	T	0.18	-8.3039	4.662	0.12646	0.0:0.6342:0.2002:0.1656	.	968;1372;1496	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	S	1496;1372;968;1178	ENSP00000378312:P1496S;ENSP00000322003:P1372S;ENSP00000378309:P968S;ENSP00000417009:P1178S	ENSP00000322003:P1372S	P	+	1	0	EFCAB5	25459142	0.976000	0.34144	0.273000	0.24645	0.719000	0.41307	0.606000	0.24194	0.859000	0.35456	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	1	0	1	81	392	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	80	387	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A4	6532	broad.mit.edu	37	17	28538374	28538374	+	Missense_Mutation	SNP	T	T	C	rs28914832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28538374T>C	ENST00000401766.2	-	9	1785	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4			25				Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AAGAAGATGATGGCAAAGAAA	0.537000																								0		GRCh37	CM033983|CM057406	SLC6A4	M	rs28914832	SO:0001583	missense			ENST00000401766.2	1	1	hg19	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510509	0.44660	4.54E-4	0.001279	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.72942	-0.7;-0.7	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	L	0.33792	1.035	0.80722	D	1	B	0.17465	0.022	B	0.25405	0.06	T	0.56378	-0.7989	10	0.25106	T	0.35	.	14.4528	0.67397	0.0:0.0:0.0:1.0	.	425	P31645	SC6A4_HUMAN	V	467;425;425	ENSP00000385822:I425V;ENSP00000261707:I425V	ENSP00000261707:I425V	I	-	1	0	SLC6A4	25562500	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.995000	0.63908	2.202000	0.70862	0.379000	0.24179	ATC		TCGA-IB-7651-01A-11D-2154-08	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	0	0	1	35	183	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	35	178	0	57	2								-3.826351	1	1	121412	88	51	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
TBC1D29	26083	broad.mit.edu	37	17	28890251	28890251	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28890251T>C	ENST00000580161.1	+	6	2758	c.261T>C	c.(259-261)atT>atC	p.I87I	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000579181.1_Silent_p.I87I|TBC1D29_ENST00000584297.1_Missense_Mutation_p.F71S			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29			9		Myeloproliferative disorder(56;0.0255)			CCAGACCCATTTGTGAGAGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000580161.1	1	1	hg19	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	5.244	0.230510	0.09969	.	.	ENSG00000197689	ENST00000378698	.	.	.	.	.	.	.	.	.	.	.	T	0.52996	0.1769	.	.	.	0.39079	D	0.96086	.	.	.	.	.	.	T	0.45469	-0.9259	3	0.25751	T	0.34	.	.	.	.	.	.	.	.	S	71	.	ENSP00000367970:F71S	F	+	2	0	TBC1D29	25914377	0.044000	0.20184	0.047000	0.18901	0.047000	0.14425	-0.099000	0.11007	0.093000	0.17368	0.092000	0.15492	TTT		TCGA-IB-7651-01A-11D-2154-08	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	0	0	1	29	98	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	1	28	96	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAP1GAP2	23108	broad.mit.edu	37	17	2898752	2898752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2898752G>A	ENST00000254695.8	+	13	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2			11					CGACGGAGACGCCCAGCAGGT	0.607000																								0							SO:0001583	missense			ENST00000254695.8	1	1	hg19	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869383	0.32977	2.31E-4	0.0	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.72	1.34	0.21922	Rap/ran-GAP (2);	0.529823	0.23081	N	0.052147	D	0.83450	0.5257	N	0.05608	-0.01	0.30925	N	0.727525	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.72972	-0.4129	10	0.13853	T	0.58	-16.4671	7.4483	0.27223	0.6114:0.0:0.3886:0.0	.	331;346	Q684P5-2;Q684P5	.;RPGP2_HUMAN	T	346;331;327;346	ENSP00000254695:A346T;ENSP00000389824:A331T;ENSP00000439688:A327T;ENSP00000444890:A346T	ENSP00000254695:A346T	A	+	1	0	RAP1GAP2	2845502	0.021000	0.18746	0.984000	0.44739	0.997000	0.91878	1.245000	0.32790	0.271000	0.22005	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2	1	0	1	65	307	0	70	1	9.952662e-01	16	25	0	70	2		0	0	0	0	0	2	1	1	64	304	0	70	2								-20.000000	1	1	121294	3	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATAD5	79915	broad.mit.edu	37	17	29162657	29162657	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29162657T>G	ENST00000321990.4	+	2	1936	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5			51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)			TAGAATGAGTTTAAGACAAAG	0.318000																								0							SO:0001583	missense			ENST00000321990.4	1	1	hg19	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	7.925	0.739325	0.15642	.	.	ENSG00000176208	ENST00000321990	T	0.09911	2.93	5.76	4.67	0.58626	.	6.041910	0.00166	N	0.000001	T	0.09949	0.0244	L	0.43923	1.385	0.20975	N	0.999815	B;B	0.31193	0.312;0.108	B;B	0.25884	0.064;0.025	T	0.48091	-0.9065	10	0.02654	T	1	.	7.0325	0.24975	0.0:0.0747:0.2951:0.6302	.	520;520	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	V	520	ENSP00000313171:L520V	ENSP00000313171:L520V	L	+	1	2	ATAD5	26186783	0.816000	0.29132	1.000000	0.80357	0.983000	0.72400	0.313000	0.19415	0.989000	0.38761	0.533000	0.62120	TTA		TCGA-IB-7651-01A-11D-2154-08	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	1	0	1	72	274	0	103	0	1.143732e-01	1	2	0	103	2		0	0	0	0	0	2	1	1	70	265	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATAD5	79915	broad.mit.edu	37	17	29196541	29196541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196541C>T	ENST00000321990.4	+	14	3862	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5			51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)			CTCTTCCCAGCGCAGTGGTAG	0.353000																								0							SO:0001583	missense			ENST00000321990.4	1	1	hg19	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004580	0.54254	.	.	ENSG00000176208	ENST00000321990	T	0.19806	2.12	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.169939	0.51477	D	0.000090	T	0.61299	0.2336	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72693	-0.4216	10	0.87932	D	0	.	19.6689	0.95903	0.0:1.0:0.0:0.0	.	1162;1162	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1162	ENSP00000313171:R1162C	ENSP00000313171:R1162C	R	+	1	0	ATAD5	26220667	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.581000	0.67471	2.642000	0.89623	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	1	0	1	84	347	0	56	0	1.758668e-01	1	3	0	56	2		0	0	0	0	0	2	1	1	82	339	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATAD5	79915	broad.mit.edu	37	17	29196652	29196652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196652G>T	ENST00000321990.4	+	14	3973	c.3595G>T	c.(3595-3597)Ggc>Tgc	p.G1199C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5			51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)			CTACTACATAGGCAAGTCACC	0.308000																								0							SO:0001583	missense			ENST00000321990.4	1	1	hg19	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548088	0.27652	.	.	ENSG00000176208	ENST00000321990	D	0.95272	-3.66	5.49	4.52	0.55395	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.172820	0.50627	D	0.000112	D	0.93831	0.8027	L	0.29908	0.895	0.37494	D	0.916487	D;D	0.76494	0.999;0.999	D;D	0.71414	0.934;0.973	D	0.93903	0.7190	10	0.72032	D	0.01	.	6.863	0.24077	0.2967:0.0:0.7033:0.0	.	1199;1199	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	1199	ENSP00000313171:G1199C	ENSP00000313171:G1199C	G	+	1	0	ATAD5	26220778	0.946000	0.32159	0.940000	0.37924	0.962000	0.63368	1.684000	0.37649	1.317000	0.45149	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	1	0	1	62	274	0	48	0	2.347531e-01	1	4	0	48	2		0	0	0	0	0	2	1	1	62	270	0	48	2								-3.203450	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAP2	55803	broad.mit.edu	37	17	29250056	29250056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29250056C>T	ENST00000330889.3	+	2	528	c.193C>T	c.(193-195)Cga>Tga	p.R65*	ADAP2_ENST00000580525.1_Nonsense_Mutation_p.R65*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	p.?(1)		13					TAAATCTGTGCGACTTGACTT	0.567000																								1	Unknown(1)						SO:0001587	stop_gained			ENST00000330889.3	0	1	hg19	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021109	0.93462	.	.	ENSG00000184060	ENST00000330889	.	.	.	5.59	0.397	0.16314	.	0.317299	0.35772	N	0.002983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3014	0.73955	0.2593:0.7407:0.0:0.0	.	.	.	.	X	65	.	ENSP00000329468:R65X	R	+	1	2	ADAP2	26274182	0.405000	0.25336	0.980000	0.43619	0.769000	0.43574	0.593000	0.23999	0.047000	0.15862	-0.397000	0.06425	CGA		TCGA-IB-7651-01A-11D-2154-08	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	1	0	0	160	676	0	172	1	9.997207e-01	3	49	0	172	2		0	0	0	0	0	2	1	1	157	663	0	171	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAP2	55803	broad.mit.edu	37	17	29284866	29284866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29284866G>A	ENST00000330889.3	+	11	1460	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	ADAP2_ENST00000580525.1_Silent_p.E381E|AC091177.1_ENST00000442757.1_RNA|RN7SL138P_ENST00000577405.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	p.?(1)		13					CATCAACAGAGAGTGGCCGCA	0.582000																								1	Unknown(1)						SO:0001819	synonymous_variant			ENST00000330889.3	1	1	hg19	CCDS11261.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	1	0	1	15	90	0	23	1	9.956379e-01	5	53	0	23	2		0	0	0	0	0	2	1	9.999072e-01	14	90	0	23	2								-19.999980	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.997726	0.990000	1	9.900000e-01	1
NF1	4763	broad.mit.edu	37	17	29661915	29661915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661915C>T	ENST00000358273.4	+	40	6255	c.5872C>T	c.(5872-5874)Cgt>Tgt	p.R1958C	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.R1937C|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	p.0?(8)|p.?(3)	NF1/ACCN1(2)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)			AAATCTAGTTCGTTTTTGCAA	0.358000			D, Mis, N, F, S, O		neurofibroma, glioma	neurofibroma, glioma			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)						SO:0001583	missense	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	ENST00000358273.4	1	0	hg19	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081652	0.94050	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.93426	-3.22;-3.22;-3.22	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.917	D	0.96854	0.9627	10	0.87932	D	0	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	1937;1958	P21359-2;P21359	.;NF1_HUMAN	C	1958;1937;1603	ENSP00000351015:R1958C;ENSP00000348498:R1937C;ENSP00000389907:R1603C	ENSP00000348498:R1937C	R	+	1	0	NF1	26686041	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.578000	0.67450	2.620000	0.88729	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	1	0	1	54	239	0	55	1	9.998566e-01	11	50	0	55	2		0	0	0	0	0	2	1	1	53	234	0	55	2								-3.153432	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NF1	4763	broad.mit.edu	37	17	29661957	29661957	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661957A>G	ENST00000358273.4	+	40	6297	c.5914A>G	c.(5914-5916)Act>Gct	p.T1972A	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.T1951A|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	p.0?(8)|p.?(3)	NF1/ACCN1(2)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)			ACAAAGAGTTACTGCTATTCT	0.378000			D, Mis, N, F, S, O		neurofibroma, glioma	neurofibroma, glioma			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)						SO:0001583	missense	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	ENST00000358273.4	1	1	hg19	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663107	0.29515	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.27256	1.68;1.68;1.68	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.10337	0.0253	N	0.01473	-0.845	0.80722	D	1	B;B	0.26147	0.143;0.0	B;B	0.20184	0.028;0.002	T	0.26677	-1.0096	10	0.17369	T	0.5	.	15.6824	0.77381	1.0:0.0:0.0:0.0	.	1951;1972	P21359-2;P21359	.;NF1_HUMAN	A	1972;1951;1617	ENSP00000351015:T1972A;ENSP00000348498:T1951A;ENSP00000389907:T1617A	ENSP00000348498:T1951A	T	+	1	0	NF1	26686083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.760000	0.91671	2.117000	0.64856	0.455000	0.32223	ACT		TCGA-IB-7651-01A-11D-2154-08	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	1	0	1	65	263	0	49	1	9.962176e-01	8	29	0	49	2		0	0	0	0	0	2	1	1	65	261	0	49	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB11FIP4	84440	broad.mit.edu	37	17	29855524	29855524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29855524G>A	ENST00000325874.8	+	12	1686	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)			19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)			CGACAGAACCGCCTTGAGTTC	0.622000																								0							SO:0001583	missense			ENST00000325874.8	1	1	hg19	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082171	0.55861	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.81046	-0.1110	8	.	.	.	-26.563	17.1298	0.86724	0.0:0.0:1.0:0.0	.	384;486	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	H	486	.	.	R	+	2	0	RAB11FIP4	26879644	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.434000	0.97515	2.711000	0.92665	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	1	0	1	78	373	0	71	1	9.977099e-01	16	29	0	71	2		0	0	0	0	0	2	1	1	77	367	0	69	2								-20.000000	1	1	121412	3	39	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1D2	4991	broad.mit.edu	37	17	2995640	2995640	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2995640G>T	ENST00000331459.1	-	1	650	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2			15					TCAGCACATAGGAAATGATCA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000331459.1	1	1	hg19	CCDS11019.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	0	0	0	18	442	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	9.999790e-01	18	432	0	108	2								-2.847557	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.480000	0.290000	1.000000	0.460000	0.538062	0.480000	0	3.700000e-01	6.600000e-01
LRRC37B	114659	broad.mit.edu	37	17	30349743	30349743	+	Silent	SNP	C	C	T	rs146053152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30349743C>T	ENST00000341671.7	+	1	1583	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	LRRC37B_ENST00000543378.2_Silent_p.C444C|LRRC37B_ENST00000394713.3_Silent_p.C526C|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000327564.7_Silent_p.C553C	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B			29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)			TCTGCACCTGCGGAGATGAGA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000341671.7	1	1	hg19	CCDS32609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	1	0	1	109	493	0	156	0	3.733869e-01	1	6	0	156	2		0	0	0	0	0	2	1	1	95	433	0	173	2								-3.857484	1	1	121342	35	47	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC37B	114659	broad.mit.edu	37	17	30361959	30361959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30361959C>T	ENST00000341671.7	+	6	2012	c.2007C>T	c.(2005-2007)gtC>gtT	p.V669V	LRRC37B_ENST00000543378.2_Silent_p.V587V|LRRC37B_ENST00000394713.3_Silent_p.V618V|LRRC37B_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000327564.7_Silent_p.V696V	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B			29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)			TGACTACTGTCGAAGATCCAT	0.318000																								0							SO:0001819	synonymous_variant			ENST00000341671.7	0	1	hg19	CCDS32609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	0	0	1	21	209	1	54	0	1.938125e-01	2	13	1	54	3		0	0	0	0	0	2	1	8.773258e-01	21	206	1	53	15								-3.221886	1	1	121400	1	28	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.700000	1.000000	1.000000	0.960467	0.990000	1	8.900000e-01	1
LRRC37B	114659	broad.mit.edu	37	17	30362622	30362622	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30362622A>C	ENST00000341671.7	+	7	2092	c.2087A>C	c.(2086-2088)aAg>aCg	p.K696T	LRRC37B_ENST00000543378.2_Missense_Mutation_p.K614T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000327564.7_Missense_Mutation_p.K723T	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B			29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)			ACAACACTTAAGAACATTCTC	0.303000																								0							SO:0001583	missense			ENST00000341671.7	1	1	hg19	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	a	13.02	2.110991	0.37242	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.52295	0.67;0.67;0.84;0.67	2.72	2.72	0.32119	.	.	.	.	.	T	0.33206	0.0855	L	0.33485	1.01	0.09310	N	1	P;B	0.35174	0.488;0.208	B;B	0.32211	0.142;0.016	T	0.19063	-1.0317	9	0.52906	T	0.07	.	7.2683	0.26242	1.0:0.0:0.0:0.0	.	645;696	Q17RC9;Q96QE4	.;LR37B_HUMAN	T	614;723;645;696	ENSP00000443345:K614T;ENSP00000332536:K723T;ENSP00000378202:K645T;ENSP00000340519:K696T	ENSP00000332536:K723T	K	+	2	0	LRRC37B	27386735	0.971000	0.33674	0.038000	0.18304	0.005000	0.04900	1.316000	0.33620	1.474000	0.48178	0.450000	0.29827	AAG		TCGA-IB-7651-01A-11D-2154-08	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	1	0	1	171	702	0	201	0	9.736289e-01	0	26	0	201	2		0	0	0	0	0	2	1	1	170	683	0	201	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC37B	114659	broad.mit.edu	37	17	30376270	30376270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30376270C>T	ENST00000341671.7	+	10	2538	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.R763*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000327564.7_Nonsense_Mutation_p.R872*	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B			29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)			GCTCATGTTGCGAACAGGCCT	0.438000																								0							SO:0001587	stop_gained			ENST00000341671.7	0	1	hg19	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.578	0.881682	0.17467	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	.	.	.	1.78	-2.18	0.07037	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1537	0.00096	0.3506:0.2442:0.1678:0.2374	.	.	.	.	X	763;872;794;845	.	ENSP00000332536:R872X	R	+	1	2	LRRC37B	27400383	0.005000	0.15991	0.006000	0.13384	0.000000	0.00434	0.839000	0.27586	-0.642000	0.05480	-2.596000	0.00163	CGA		TCGA-IB-7651-01A-11D-2154-08	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	1	0	1	70	294	0	91	1	9.846261e-01	5	25	0	91	2		0	0	0	0	0	2	1	1	70	291	0	91	2								-20.000000	1	1	121318	1	33	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHBDL3	162494	broad.mit.edu	37	17	30643294	30643294	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30643294C>A	ENST00000269051.4	+	8	940	c.926C>A	c.(925-927)gCt>gAt	p.A309D	RHBDL3_ENST00000536287.1_Missense_Mutation_p.A211D|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)			16		Breast(31;0.116)|Ovarian(249;0.182)			CTGCGGATGGCTGTGGCCCTT	0.552000																								0							SO:0001583	missense			ENST00000269051.4	1	1	hg19	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934735	0.73442	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.12465	2.68;2.68;2.68	5.56	4.58	0.56647	Peptidase S54, rhomboid domain (1);	0.051784	0.85682	D	0.000000	T	0.18593	0.0446	M	0.62088	1.915	0.58432	D	0.999999	P;P	0.44380	0.834;0.834	B;B	0.44085	0.44;0.44	T	0.01105	-1.1450	10	0.62326	D	0.03	.	9.8851	0.41257	0.0:0.7871:0.1404:0.0724	.	301;309	Q495Y5;P58872	.;RHBL3_HUMAN	D	309;301;211	ENSP00000269051:A309D;ENSP00000442092:A301D;ENSP00000466508:A211D	ENSP00000269051:A309D	A	+	2	0	RHBDL3	27667407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.499000	0.53310	1.324000	0.45282	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	1	0	1	219	851	0	214		0	0	0	0	214	2		0	0	0	0	0	2	1	1	214	843	0	213	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf75	64149	broad.mit.edu	37	17	30665300	30665300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30665300T>C	ENST00000577809.1	-	4	467	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75			1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)		GAGTCTATCGTTACTGTTTCA	0.358000																								0							SO:0001583	missense			ENST00000577809.1	1	1	hg19	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	T	3.600	-0.081745	0.07141	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.62	0.773	0.18516	.	0.406564	0.30003	N	0.010642	T	0.16257	0.0391	N	0.16478	0.41	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.21008	-1.0258	9	0.14252	T	0.57	-13.093	4.9529	0.14023	0.124:0.2811:0.0:0.5949	.	140	Q9HAS0	NJMU_HUMAN	A	140	.	ENSP00000225805:T140A	T	-	1	0	C17orf75	27689413	0.404000	0.25328	0.386000	0.26170	0.003000	0.03518	0.321000	0.19558	0.085000	0.17107	-0.411000	0.06167	ACG		TCGA-IB-7651-01A-11D-2154-08	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	1	0	1	51	463	0	124	1	9.642687e-01	5	46	0	124	2		0	0	0	0	0	2	1	1	51	453	0	123	2								-16.547560	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.890000	1.000000	1.000000	0.993402	0.990000	1	9.900000e-01	1
C17orf75	64149	broad.mit.edu	37	17	30666953	30666953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30666953A>G	ENST00000577809.1	-	3	275	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75			1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)		TCTGCCAAGGAGAGGCTTGAC	0.473000																								0							SO:0001583	missense			ENST00000577809.1	1	1	hg19	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326033	0.41197	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.49	5.49	0.81192	.	0.172475	0.51477	D	0.000084	T	0.77054	0.4074	M	0.61703	1.905	0.43879	D	0.996495	D	0.89917	1.0	D	0.85130	0.997	T	0.79662	-0.1710	9	0.87932	D	0	-4.6812	15.5785	0.76414	1.0:0.0:0.0:0.0	.	76	Q9HAS0	NJMU_HUMAN	P	76	.	ENSP00000225805:S76P	S	-	1	0	C17orf75	27691066	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.206000	0.65192	2.080000	0.62538	0.528000	0.53228	TCC		TCGA-IB-7651-01A-11D-2154-08	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	1	0	0	57	193	0	52	1	9.999965e-01	15	52	0	52	2		0	0	0	0	0	2	1	1	57	191	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF207	7756	broad.mit.edu	37	17	30696771	30696771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30696771G>A	ENST00000321233.6	+	11	1584	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF207_ENST00000394670.4_Missense_Mutation_p.R493H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H|ZNF207_ENST00000577908.1_Intron	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	p.R477L(1)		10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)		CAAGGTGGCCGTTACTGATCT	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000321233.6	1	1	hg19	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848845	0.51164	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T	0.53640	0.64;0.73;0.61	5.65	4.69	0.59074	.	.	.	.	.	T	0.49406	0.1555	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62560	0.904;0.904;0.904;0.904	T	0.58075	-0.7700	9	0.87932	D	0	.	14.8335	0.70166	0.0692:0.0:0.9308:0.0	.	446;493;462;477	A8MTG3;E1P660;O43670-2;O43670	.;.;.;ZN207_HUMAN	H	493;446;462;394;477	ENSP00000378165:R493H;ENSP00000322777:R462H;ENSP00000344913:R394H	ENSP00000322777:R462H	R	+	2	0	ZNF207	27720884	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.004000	0.88535	1.406000	0.46857	-0.320000	0.08662	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2	1	0	1	33	222	0	71	1	1	142	439	0	71	2		0	0	0	0	0	2	1	1	31	219	0	71	2								-20.000000	1	1	121166	1	33	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999608	0.990000	1	9.900000e-01	1
PSMD11	5717	broad.mit.edu	37	17	30796059	30796059	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30796059C>A	ENST00000261712.3	+	6	754	c.491C>A	c.(490-492)gCt>gAt	p.A164D	PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11			19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)		GACGACAAAGCTCTTTTGGTG	0.448000													Ovarian(130;1038 1716 9294 11987 19279)											0							SO:0001583	missense			ENST00000261712.3	1	1	hg19	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261777	0.39995	.	.	ENSG00000108671	ENST00000261712	T	0.43294	0.95	5.65	5.65	0.86999	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.37507	1.11	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.17098	0.017;0.003	T	0.10730	-1.0617	10	0.11485	T	0.65	-6.4445	17.2626	0.87075	0.0:1.0:0.0:0.0	.	164;164	B4DTS5;O00231	.;PSD11_HUMAN	D	164	ENSP00000261712:A164D	ENSP00000261712:A164D	A	+	2	0	PSMD11	27820172	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.551000	0.82182	2.941000	0.99782	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	1	0	1	65	313	0	77	1	1	106	238	0	77	2		0	0	0	0	0	2	1	1	63	306	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK5R1	8851	broad.mit.edu	37	17	30815096	30815096	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30815096G>A	ENST00000313401.3	+	2	1147	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)			8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)		GAGCTGCTTCGCTGCCTGGGT	0.677000																								0							SO:0001583	missense			ENST00000313401.3	1	1	hg19	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817185	0.90790	.	.	ENSG00000176749	ENST00000313401	T	0.80738	-1.41	5.55	5.55	0.83447	Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	P	0.58970	0.849	D	0.89174	0.3539	10	0.87932	D	0	-21.4374	16.9953	0.86366	0.0:0.0:1.0:0.0	.	153	Q15078	CD5R1_HUMAN	H	153	ENSP00000318486:R153H	ENSP00000318486:R153H	R	+	2	0	CDK5R1	27839209	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.556000	0.73932	2.609000	0.88269	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	1	0	1	84	288	0	50	0	3.195875e-01	0	5	0	50	2		0	0	0	0	0	2	1	1	84	287	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1D	4642	broad.mit.edu	37	17	30980908	30980908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30980908G>A	ENST00000318217.5	-	19	2852	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	MYO1D_ENST00000394649.4_Missense_Mutation_p.R762W|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID			39			BRCA - Breast invasive adenocarcinoma(9;0.0362)		TTGTCCTTCCGTTTCAATTCA	0.413000																								0							SO:0001583	missense			ENST00000318217.5	1	1	hg19	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010813	0.75046	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	D	0.87650	-2.28	5.89	4.9	0.64082	Myosin tail 2 (1);	0.000000	0.36740	U	0.002433	D	0.90089	0.6904	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68765	0.96;0.932	D	0.90562	0.4516	10	0.72032	D	0.01	.	11.8626	0.52476	0.0:0.0:0.6823:0.3176	.	761;850	Q7Z3N6;O94832	.;MYO1D_HUMAN	W	850;42	ENSP00000324527:R850W	ENSP00000324527:R850W	R	-	1	2	MYO1D	28005021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.298000	0.43602	1.454000	0.47793	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1	1	0	1	35	128	0	29	1	1	103	299	0	29	2		0	0	0	0	0	2	1	1	35	125	0	29	2								-19.999840	1	1	121412	3	33	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1D	4642	broad.mit.edu	37	17	31082531	31082531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31082531G>A	ENST00000318217.5	-	11	1750	c.1446C>T	c.(1444-1446)caC>caT	p.H482H	MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.H394H|MYO1D_ENST00000579584.1_Silent_p.H482H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID			39			BRCA - Breast invasive adenocarcinoma(9;0.0362)		AAAAATGGGCGTGTTTGCCCA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000318217.5	1	0	hg19	CCDS32615.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1	1	0	1	58	298	0	88	1	1	87	264	0	88	2		0	0	0	0	0	2	1	1	57	294	0	88	2								-3.296900	1	1	121408	55	50	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM98	26022	broad.mit.edu	37	17	31263420	31263420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31263420C>T	ENST00000579849.1	+	6	799	c.368C>T	c.(367-369)gCc>gTc	p.A123V	TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V|TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98			3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)		AAGACTTCAGCCAGTGTCAGC	0.572000																								0							SO:0001583	missense			ENST00000579849.1	1	1	hg19	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364878	0.82463	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.51325	0.71;0.87;0.88;0.71	5.47	5.47	0.80525	.	0.056029	0.64402	D	0.000001	T	0.40595	0.1123	L	0.29908	0.895	0.46167	D	0.998907	B	0.31413	0.322	B	0.31245	0.126	T	0.17258	-1.0375	10	0.54805	T	0.06	.	16.8304	0.85942	0.0:1.0:0.0:0.0	.	123	Q9Y2Y6	TMM98_HUMAN	V	123	ENSP00000378138:A123V;ENSP00000261713:A123V;ENSP00000398446:A123V;ENSP00000406394:A123V	ENSP00000261713:A123V	A	+	2	0	TMEM98	28287533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.145000	0.77365	1.081000	0.41110	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	1	0	1	57	294	0	77	1	1	33	350	0	77	2		0	0	0	0	0	2	1	1	56	287	0	77	2								-3.239716	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM98	26022	broad.mit.edu	37	17	31266550	31266550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31266550G>A	ENST00000579849.1	+	7	900	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98			3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)		ACTCCTGGACGCACGGTGAGA	0.532000																								0							SO:0001583	missense			ENST00000579849.1	1	1	hg19	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301065	0.95601	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000439138	T;T	0.43688	0.94;0.94	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	T	0.55927	-0.8063	10	0.46703	T	0.11	-24.2618	17.7902	0.88550	0.0:0.0:1.0:0.0	.	157	Q9Y2Y6	TMM98_HUMAN	T	157	ENSP00000378138:A157T;ENSP00000406394:A157T	ENSP00000261713:A157T	A	+	1	0	TMEM98	28290663	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.097000	0.94193	2.813000	0.96785	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	1	0	1	47	214	0	61	1	1	37	240	0	61	2		0	0	0	0	0	2	1	1	43	204	0	61	2								-3.333471	1	1	121412	1	23	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPACA3	124912	broad.mit.edu	37	17	31322708	31322708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31322708G>A	ENST00000269053.3	+	2	386	c.316G>A	c.(316-318)Gga>Aga	p.G106R	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.G37R	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3			18			BRCA - Breast invasive adenocarcinoma(9;0.193)		CGGGCTGGACGGATACCGGGG	0.622000																								0							SO:0001583	missense			ENST00000269053.3	1	1	hg19	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	g	16.96	3.266508	0.59540	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.71817	-0.6	3.94	3.94	0.45596	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000001	T	0.79240	0.4412	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80752	-0.1242	10	0.87932	D	0	-9.2107	11.7831	0.52026	0.0:0.0:1.0:0.0	.	106	Q8IXA5	SACA3_HUMAN	R	106;107	ENSP00000269053:G106R	ENSP00000269053:G106R	G	+	1	0	SPACA3	28346821	1.000000	0.71417	0.440000	0.26846	0.640000	0.38277	4.350000	0.59392	2.510000	0.84645	0.443000	0.29094	GGA		TCGA-IB-7651-01A-11D-2154-08	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	1	0	1	28	157	0	40	0	6.612252e-02	0	3	0	40	2		0	0	0	0	0	2	1	1	27	152	0	40	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999919	0.990000	1	9.900000e-01	1
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1					Ovarian(249;0.0443)|Breast(31;0.133)			GTGTCCAAGGCGCAGGCCTCT	0.522000																								0							SO:0001583	missense			ENST00000225842.3	1	1	hg19	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444285	0.63178	.	.	ENSG00000108702	ENST00000225842	T	0.07327	3.2	4.38	4.38	0.52667	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.594257	0.15696	N	0.249176	T	0.22166	0.0534	.	.	.	0.19575	N	0.999966	D	0.76494	0.999	D	0.65773	0.938	T	0.01899	-1.1251	9	0.41790	T	0.15	-6.7211	12.7477	0.57289	0.0:1.0:0.0:0.0	.	74	P22362	CCL1_HUMAN	T	74	ENSP00000225842:A74T	ENSP00000225842:A74T	A	-	1	0	CCL1	29711762	0.618000	0.27051	0.233000	0.24025	0.003000	0.03518	2.932000	0.48940	2.719000	0.93026	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	1	0	1	112	505	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	108	499	0	96	2								-20.000000	1	1	121412	10	42	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCL1	6346	broad.mit.edu	37	17	32690113	32690113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32690113C>A	ENST00000225842.3	-	1	137	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1					Ovarian(249;0.0443)|Breast(31;0.133)			ACTGCTCTTGCTGTCCACATC	0.572000																								0							SO:0001583	missense			ENST00000225842.3	1	1	hg19	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776681	0.31411	.	.	ENSG00000108702	ENST00000225842	T	0.03413	3.94	4.42	2.41	0.29592	Chemokine interleukin-8-like domain (1);	0.529029	0.20041	N	0.100511	T	0.05640	0.0148	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.49226	0.603	T	0.29336	-1.0015	9	0.48119	T	0.1	-6.2234	6.3335	0.21282	0.0:0.6976:0.202:0.1004	.	23	P22362	CCL1_HUMAN	I	23	ENSP00000225842:S23I	ENSP00000225842:S23I	S	-	2	0	CCL1	29714226	0.008000	0.16893	0.000000	0.03702	0.022000	0.10575	0.558000	0.23469	0.802000	0.34089	0.644000	0.83932	AGC		TCGA-IB-7651-01A-11D-2154-08	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	1	0	1	48	195	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	48	189	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf102	400591	broad.mit.edu	37	17	32906007	32906007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32906007C>T	ENST00000357754.1	-	1	381	c.293G>A	c.(292-294)gGg>gAg	p.G98E	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102			9					CCCAGAGCCCCCGCGGCCCGA	0.672000																								0							SO:0001583	missense			ENST00000357754.1	1	1	hg19	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744526	0.30865	.	.	ENSG00000197322	ENST00000357754	T	0.46063	0.88	3.33	2.3	0.28687	.	1.147840	0.06879	U	0.802091	T	0.45796	0.1360	N	0.19112	0.55	0.09310	N	1	D	0.61697	0.99	P	0.61592	0.891	T	0.40572	-0.9556	10	0.87932	D	0	.	8.3172	0.32108	0.0:0.755:0.2449:0.0	.	98	A2RUQ5	CQ102_HUMAN	E	98	ENSP00000350392:G98E	ENSP00000350392:G98E	G	-	2	0	C17orf102	29930120	0.020000	0.18652	0.000000	0.03702	0.019000	0.09904	0.831000	0.27476	0.663000	0.31027	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	0	0	1	162	596	1	122		0	0	0	1	122	2		0	0	0	0	0	2	1	1	162	586	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM132E	124842	broad.mit.edu	37	17	32956037	32956037	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32956037C>T	ENST00000321639.5	+	5	1210	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E			57					GCAGGGAGGGCCAGGGCCCCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000321639.5	1	1	hg19	CCDS11283.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	1	0	0	39	595	0	137	0	1.283474e-01	0	10	0	137	2	0	0	0	1	0	0	2	1	1	39	587	0	135	2								-8.022131	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.740000	0.530000	1.000000	0.720000	0.766187	0.740000	0	6.300000e-01	9.200000e-01
TMEM132E	124842	broad.mit.edu	37	17	32965106	32965106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32965106C>T	ENST00000321639.5	+	10	3138	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E			57					GAGGAGCTGGCCTATGACTCG	0.697000																								0							SO:0001583	missense			ENST00000321639.5	0	1	hg19	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558345	0.45590	.	.	ENSG00000181291	ENST00000321639	T	0.06142	3.34	4.89	4.89	0.63831	.	0.117206	0.64402	D	0.000020	T	0.05502	0.0145	L	0.27053	0.805	0.40800	D	0.983337	B	0.23891	0.093	B	0.19666	0.026	T	0.32745	-0.9895	10	0.48119	T	0.1	-33.8477	10.7548	0.46230	0.0:0.9136:0.0:0.0864	.	937	Q6IEE7	T132E_HUMAN	V	937	ENSP00000316532:A937V	ENSP00000316532:A937V	A	+	2	0	TMEM132E	29989219	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.877000	0.48506	2.552000	0.86080	0.643000	0.83706	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	1	0	1	10	60	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.971948e-01	10	58	0	9	2								-19.998980	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.880000	1.000000	1.000000	0.993008	0.990000	1	9.900000e-01	1
OR1E1	8387	broad.mit.edu	37	17	3300833	3300833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3300833C>A	ENST00000322608.2	-	1	871	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1			10					GTTCCTCAGGCTGTAGATGAA	0.443000																								0							SO:0001583	missense			ENST00000322608.2	1	1	hg19	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570788	0.86542	.	.	ENSG00000180016	ENST00000322608	T	0.36878	1.23	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.80183	2.485	0.48696	D	0.999691	D	0.62365	0.991	P	0.60682	0.878	T	0.66559	-0.5893	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	291	P30953	OR1E1_HUMAN	I	291	ENSP00000313384:S291I	ENSP00000313384:S291I	S	-	2	0	OR1E1	3247583	0.930000	0.31532	1.000000	0.80357	0.989000	0.77384	2.328000	0.43867	2.449000	0.82847	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	1	0	1	60	277	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	59	275	0	100	2								-3.398322	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1E1	8387	broad.mit.edu	37	17	3301258	3301258	+	Missense_Mutation	SNP	C	C	A	rs145403333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3301258C>A	ENST00000322608.2	-	1	446	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1			10					TGGTCAGCACCCAGGACAGCG	0.547000																								0							SO:0001583	missense			ENST00000322608.2	1	1	hg19	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945301	0.53079	.	.	ENSG00000180016	ENST00000322608	T	0.59638	0.25	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.80065	0.4555	M	0.91510	3.215	0.58432	D	0.999996	D	0.57257	0.979	D	0.65987	0.94	D	0.85183	0.1005	10	0.87932	D	0	.	16.3395	0.83078	0.0:1.0:0.0:0.0	.	149	P30953	OR1E1_HUMAN	C	149	ENSP00000313384:W149C	ENSP00000313384:W149C	W	-	3	0	OR1E1	3248008	0.035000	0.19736	1.000000	0.80357	0.776000	0.43924	0.570000	0.23653	2.449000	0.82847	0.591000	0.81541	TGG		TCGA-IB-7651-01A-11D-2154-08	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	0	0	1	37	226	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	36	218	0	52	2								-3.225115	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999948	0.990000	1	9.900000e-01	1
RFFL	117584	broad.mit.edu	37	17	33348430	33348430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348430G>A	ENST00000315249.7	-	3	773	c.551C>T	c.(550-552)gCc>gTc	p.A184V	RFFL_ENST00000268850.7_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_Missense_Mutation_p.A184V|RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase			6		Ovarian(249;0.17)			AACAGAGGTGGCTTGTGCAGA	0.552000																								0							SO:0001583	missense			ENST00000315249.7	1	1	hg19	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033387	0.19590	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.46063	0.88;0.88;0.89;0.94;0.89;0.88	5.29	4.32	0.51571	.	0.493756	0.19078	N	0.123321	T	0.22322	0.0538	N	0.05230	-0.09	0.24595	N	0.993809	B;B;B;B	0.12630	0.006;0.001;0.0;0.001	B;B;B;B	0.12156	0.007;0.002;0.002;0.004	T	0.13255	-1.0516	10	0.23302	T	0.38	-7.8595	12.2476	0.54578	0.0825:0.0:0.9175:0.0	.	184;184;184;184	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	V	184	ENSP00000326170:A184V;ENSP00000378096:A184V;ENSP00000367777:A184V;ENSP00000268850:A184V;ENSP00000408513:A184V;ENSP00000412322:A184V	ENSP00000268850:A184V	A	-	2	0	RFFL	30372543	0.986000	0.35501	0.726000	0.30738	0.232000	0.25224	3.985000	0.56930	1.440000	0.47531	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	1	0	1	38	164	0	51	1	9.999725e-01	15	58	0	51	2		0	0	0	0	0	2	1	1	35	158	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFFL	117584	broad.mit.edu	37	17	33348547	33348547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348547C>T	ENST00000315249.7	-	3	656	c.434G>A	c.(433-435)aGg>aAg	p.R145K	RFFL_ENST00000268850.7_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_Missense_Mutation_p.R145K|RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase			6		Ovarian(249;0.17)			GGCACGAGTCCTGTCCTCCTG	0.582000																								0							SO:0001583	missense			ENST00000315249.7	1	1	hg19	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	9.551	1.115960	0.20795	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.98;0.97;0.97	5.65	4.68	0.58851	.	0.406087	0.30201	N	0.010166	T	0.30634	0.0771	L	0.42245	1.32	0.30764	N	0.743764	P;P;B;B	0.43287	0.802;0.627;0.323;0.225	B;B;B;B	0.40677	0.337;0.295;0.079;0.114	T	0.18871	-1.0323	10	0.06099	T	0.92	-22.2961	10.0295	0.42092	0.0:0.8343:0.0:0.1657	.	145;145;145;145	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	K	145	ENSP00000326170:R145K;ENSP00000378096:R145K;ENSP00000367777:R145K;ENSP00000268850:R145K;ENSP00000408513:R145K;ENSP00000412322:R145K	ENSP00000268850:R145K	R	-	2	0	RFFL	30372660	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	3.146000	0.50631	1.630000	0.50440	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	1	0	1	44	149	0	41	1	9.999910e-01	19	45	0	41	2		0	0	0	0	0	2	1	1	42	144	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPATA22	84690	broad.mit.edu	37	17	3343532	3343532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3343532G>A	ENST00000573128.1	-	9	1484	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22			19					AGAAACAGACGCCGGTCTGAC	0.378000																								0							SO:0001583	missense			ENST00000573128.1	1	1	hg19	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886862	0.91814	4.54E-4	0.0	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.37752	1.18;1.18;1.18	5.71	5.71	0.89125	.	0.256413	0.31542	N	0.007477	T	0.43122	0.1233	N	0.19112	0.55	0.39359	D	0.965891	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.57324	0.818;0.818;0.818	T	0.44205	-0.9343	10	0.87932	D	0	-19.6519	19.2308	0.93839	0.0:0.0:1.0:0.0	.	318;291;334	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	V	291;334;318	ENSP00000347541:A291V;ENSP00000380354:A334V;ENSP00000441920:A318V	ENSP00000347541:A291V	A	-	2	0	SPATA22	3290282	1.000000	0.71417	0.992000	0.48379	0.875000	0.50365	5.895000	0.69814	2.868000	0.98415	0.557000	0.71058	GCG		TCGA-IB-7651-01A-11D-2154-08	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	1	0	1	41	355	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	41	353	0	54	2								-14.426020	1	1	121410	7	41	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.910000	1.000000	1.000000	0.994680	0.990000	1	9.900000e-01	1
FNDC8	54752	broad.mit.edu	37	17	33454299	33454299	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33454299A>G	ENST00000158009.5	+	2	563	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8			11		Ovarian(249;0.17)			CCAGATGGCCACAAGGGGCCT	0.582000																								0							SO:0001583	missense			ENST00000158009.5	1	1	hg19	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	A	1.870	-0.460518	0.04508	.	.	ENSG00000073598	ENST00000158009	T	0.30448	1.53	4.52	1.11	0.20524	.	0.409067	0.21308	N	0.076696	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	1	B	0.21905	0.062	B	0.17098	0.017	T	0.16364	-1.0405	10	0.30078	T	0.28	-2.735	5.5119	0.16886	0.4787:0.4225:0.0:0.0988	.	150	Q8TC99	FNDC8_HUMAN	A	150	ENSP00000158009:T150A	ENSP00000158009:T150A	T	+	1	0	FNDC8	30478412	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.113000	0.15499	0.256000	0.21614	-0.213000	0.12676	ACA		TCGA-IB-7651-01A-11D-2154-08	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	0	0	1	163	853	1	190	0	2.603475e-02	0	2	1	190	2		0	0	0	0	0	2	1	1	162	843	1	189	18								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLE1	54475	broad.mit.edu	37	17	33463193	33463193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33463193C>T	ENST00000442241.4	-	9	1045	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	NLE1_ENST00000360831.5_Missense_Mutation_p.V294M|NLE1_ENST00000586869.1_Missense_Mutation_p.V44M|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)			22		Ovarian(249;0.17)			CTCACCCGCACGAGGTTGTAT	0.552000																								0							SO:0001583	missense			ENST00000442241.4	1	1	hg19	CCDS11291.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.63	2.293743	0.40594	.	.	ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697	T	0.60171	0.21	5.1	3.0	0.34707	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114208	0.64402	N	0.000016	T	0.58623	0.2135	L	0.43152	1.355	0.40738	D	0.982804	D;P	0.60575	0.988;0.904	P;P	0.59357	0.856;0.543	T	0.57277	-0.7839	10	0.37606	T	0.19	-17.8702	6.5262	0.22303	0.0:0.7806:0.0:0.2194	.	312;336	B4E074;Q9NVX2	.;NLE1_HUMAN	M	336;44;312	ENSP00000413572:V336M	ENSP00000354075:V44M	V	-	1	0	NLE1	30487306	0.996000	0.38824	0.182000	0.23118	0.185000	0.23345	3.248000	0.51430	1.396000	0.46663	-0.222000	0.12452	GTG		TCGA-IB-7651-01A-11D-2154-08	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	1	0	1	232	1172	0	252	1	9.827221e-01	10	24	0	252	2		0	0	0	0	0	2	1	1	228	1141	0	251	2								-20.000000	1	1	121412	10	47	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLE1	54475	broad.mit.edu	37	17	33464116	33464116	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33464116C>A	ENST00000442241.4	-	7	771	c.732G>T	c.(730-732)ggG>ggT	p.G244G	NLE1_ENST00000360831.5_Silent_p.G202G|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)			22		Ovarian(249;0.17)			ACTGGGTGTGCCCGGTGAGGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000442241.4	0	1	hg19	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235133	0.22626	.	.	ENSG00000073536	ENST00000436188	.	.	.	4.6	-1.56	0.08532	.	0.051829	0.85682	D	0.000000	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55798	-0.8084	6	0.87932	D	0	-24.1017	5.3062	0.15805	0.0:0.3098:0.1577:0.5325	.	.	.	.	V	24	.	ENSP00000416023:G24V	G	-	2	0	NLE1	30488229	0.059000	0.20769	0.992000	0.48379	0.991000	0.79684	-0.790000	0.04604	-0.084000	0.12595	-0.345000	0.07892	GGC		TCGA-IB-7651-01A-11D-2154-08	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	0	0	0	10	411	0	67	1	4.762768e-01	2	61	0	67	2		0	0	0	0	0	2	1	9.968842e-01	10	409	0	66	2								-2.985916	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.300000	0.150000	1.000000	0.280000	0.372795	0.300000	0	2.100000e-01	4.500000e-01
SPATA22	84690	broad.mit.edu	37	17	3346538	3346538	+	Missense_Mutation	SNP	C	C	T	rs139946072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3346538C>T	ENST00000573128.1	-	8	1313	c.830G>A	c.(829-831)gGc>gAc	p.G277D	SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22			19					ATAATATGGGCCAGGTGTAAC	0.348000																								0							SO:0001583	missense			ENST00000573128.1	1	1	hg19	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268539	0.80469	0.0	1.16E-4	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.80033	-1.33;-1.33;-1.33	5.32	5.32	0.75619	.	0.074384	0.49916	D	0.000135	D	0.84524	0.5491	L	0.27053	0.805	0.41576	D	0.988713	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.994;1.0	D	0.86378	0.1727	10	0.66056	D	0.02	-10.3436	18.3541	0.90351	0.0:1.0:0.0:0.0	.	261;234;277	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	D	234;277;261	ENSP00000347541:G234D;ENSP00000380354:G277D;ENSP00000441920:G261D	ENSP00000347541:G234D	G	-	2	0	SPATA22	3293288	0.999000	0.42202	0.684000	0.30055	0.882000	0.50991	4.425000	0.59875	2.660000	0.90430	0.557000	0.71058	GGC		TCGA-IB-7651-01A-11D-2154-08	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	1	0	1	22	117	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	9.999993e-01	22	117	0	28	2								-13.528450	1	1	121382	1	23	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999832	0.990000	1	9.900000e-01	1
NLE1	54475	broad.mit.edu	37	17	33467027	33467027	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33467027C>A	ENST00000442241.4	-	3	260	c.221G>T	c.(220-222)gGg>gTg	p.G74V	NLE1_ENST00000360831.5_Missense_Mutation_p.G74V|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)			22		Ovarian(249;0.17)			CAACGTCTTCCCCAGTGAGGA	0.547000																								0							SO:0001583	missense			ENST00000442241.4	1	1	hg19	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.010051	0.19277	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.57436	0.4	5.22	-0.569	0.11756	NLE (1);	0.558737	0.20980	N	0.082221	T	0.35970	0.0950	L	0.41492	1.28	0.58432	D	0.999992	B	0.24043	0.096	B	0.31390	0.129	T	0.04565	-1.0942	10	0.17369	T	0.5	-12.3469	4.3035	0.10935	0.0:0.3614:0.1731:0.4654	.	74	Q9NVX2	NLE1_HUMAN	V	74	ENSP00000413572:G74V	ENSP00000413572:G74V	G	-	2	0	NLE1	30491140	0.976000	0.34144	0.995000	0.50966	0.700000	0.40528	0.986000	0.29590	0.075000	0.16796	-0.145000	0.13849	GGG		TCGA-IB-7651-01A-11D-2154-08	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	1	0	1	33	175	0	48	1	9.938043e-01	14	31	0	48	2		0	0	0	0	0	2	1	1	33	173	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
UNC45B	146862	broad.mit.edu	37	17	33495173	33495173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495173G>T	ENST00000268876.5	+	10	1342	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)			59		Ovarian(249;0.17)			TGGGCAACCAGCTGCTGGGAC	0.582000																								0							SO:0001583	missense			ENST00000268876.5	1	1	hg19	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996034	0.54147	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.47869	1.5;3.48;1.5;0.83	5.02	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.241992	0.43260	D	0.000585	T	0.41604	0.1166	N	0.14661	0.345	0.37898	D	0.930937	D;P;B	0.61080	0.989;0.701;0.314	P;B;P	0.58820	0.846;0.435;0.447	T	0.40534	-0.9558	10	0.42905	T	0.14	-31.7403	8.7666	0.34706	0.2965:0.0:0.7035:0.0	.	415;415;415	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	415	ENSP00000378071:Q415H;ENSP00000268876:Q415H;ENSP00000412840:Q415H;ENSP00000367710:Q415H	ENSP00000268876:Q415H	Q	+	3	2	UNC45B	30519286	0.991000	0.36638	1.000000	0.80357	0.951000	0.60555	1.293000	0.33353	0.834000	0.34852	-0.766000	0.03442	CAG		TCGA-IB-7651-01A-11D-2154-08	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	0	0	1	39	205	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	39	200	0	58	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SLFN5	162394	broad.mit.edu	37	17	33591403	33591403	+	Missense_Mutation	SNP	A	A	C	rs138507199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33591403A>C	ENST00000299977.4	+	4	1488	c.1340A>C	c.(1339-1341)aAc>aCc	p.N447T	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5			34		Ovarian(249;0.17)			ATTTCCCAGAACAACACCCCT	0.448000																								0							SO:0001583	missense			ENST00000299977.4	1	1	hg19	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	a	12.40	1.926981	0.34002	.	.	ENSG00000166750	ENST00000299977	T	0.02369	4.32	3.46	3.46	0.39613	.	0.332867	0.21783	N	0.069164	T	0.05318	0.0141	M	0.78049	2.395	0.25796	N	0.984569	P	0.37781	0.608	B	0.36534	0.227	T	0.15578	-1.0432	10	0.87932	D	0	.	8.5002	0.33152	1.0:0.0:0.0:0.0	.	447	Q08AF3	SLFN5_HUMAN	T	447	ENSP00000299977:N447T	ENSP00000299977:N447T	N	+	2	0	SLFN5	30615516	0.000000	0.05858	0.049000	0.19019	0.978000	0.69477	0.471000	0.22100	1.579000	0.49836	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	1	0	1	80	351	0	80	0	9.888253e-01	0	33	0	80	2		0	0	0	0	0	2	1	1	80	346	0	80	2								-3.840168	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLFN5	162394	broad.mit.edu	37	17	33592666	33592666	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33592666G>T	ENST00000299977.4	+	5	2583	c.2435G>T	c.(2434-2436)aGg>aTg	p.R812M	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5			34		Ovarian(249;0.17)			ACAGCAATGAGGAAGAGAAAA	0.433000																								0							SO:0001583	missense			ENST00000299977.4	1	1	hg19	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	g	14.77	2.635308	0.47049	.	.	ENSG00000166750	ENST00000299977	D	0.82893	-1.66	3.14	1.11	0.20524	.	0.367861	0.19839	N	0.104889	D	0.86447	0.5935	M	0.71206	2.165	0.54753	D	0.999986	D	0.89917	1.0	D	0.65987	0.94	D	0.84056	0.0372	10	0.87932	D	0	.	4.8998	0.13769	0.2928:0.0:0.7072:0.0	.	812	Q08AF3	SLFN5_HUMAN	M	812	ENSP00000299977:R812M	ENSP00000299977:R812M	R	+	2	0	SLFN5	30616779	0.283000	0.24277	0.835000	0.33067	0.094000	0.18550	0.297000	0.19101	0.651000	0.30788	-0.126000	0.14955	AGG		TCGA-IB-7651-01A-11D-2154-08	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	1	0	1	56	328	0	85	1	9.945695e-01	2	47	0	85	2		0	0	0	0	0	2	1	1	56	322	0	85	2								-2.643617	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PEX12	5193	broad.mit.edu	37	17	33904391	33904391	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33904391A>G	ENST00000225873.4	-	2	953	c.346T>C	c.(346-348)Tct>Cct	p.S116P	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12			18					AACATAATAGATTTCCAAAGC	0.433000																								0							SO:0001583	missense			ENST00000225873.4	1	1	hg19	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629455	0.87660	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84873	-1.91	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93810	0.7109	10	0.59425	D	0.04	-11.9731	14.7232	0.69323	1.0:0.0:0.0:0.0	.	116	O00623	PEX12_HUMAN	P	116	ENSP00000225873:S116P	ENSP00000225873:S116P	S	-	1	0	PEX12	30928504	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	8.504000	0.90512	2.077000	0.62373	0.528000	0.53228	TCT		TCGA-IB-7651-01A-11D-2154-08	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	0	0	0	47	1036	0	202	0	4.740480e-01	1	35	0	202	2		0	0	0	0	0	2	1	1	47	1019	0	200	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.520000	0.380000	1.000000	0.510000	0.569593	0.520000	0	4.400000e-01	6.400000e-01
AP2B1	163	broad.mit.edu	37	17	34001297	34001297	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34001297C>T	ENST00000262325.7	+	16	2792	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000312678.8_Silent_p.L761L|AP2B1_ENST00000592545.1_Silent_p.L723L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.L761L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit			28		Ovarian(249;0.17)			CAATAAAGCTCTGCAGCACAT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000262325.7	0	1	hg19	CCDS32622.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1	0	0	0	9	636	0	116	1	9.532140e-01	7	368	0	116	2		0	0	0	0	0	2	1	9.937056e-01	9	623	0	115	2								-2.807948	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.170000	0.080000	1.000000	0.170000	0.261407	0.170000	0	1.200000e-01	2.700000e-01
AP2B1	163	broad.mit.edu	37	17	34044364	34044364	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34044364A>G	ENST00000262325.7	+	20	3288	c.2735A>G	c.(2734-2736)tAc>tGc	p.Y912C	AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit			28		Ovarian(249;0.17)			AACCCCAATTACACGGTAAGG	0.498000																								0							SO:0001583	missense			ENST00000262325.7	0	1	hg19	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742860	0.49151	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.36157	1.53;1.54;1.27;1.54	5.72	5.72	0.89469	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.12182	0.205	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.005;0.009	P;B;B;B	0.56042	0.79;0.01;0.01;0.006	T	0.14172	-1.0482	10	0.25751	T	0.34	-13.2416	15.4767	0.75485	1.0:0.0:0.0:0.0	.	663;888;912;926	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	C	912;926;855;926;663	ENSP00000262325:Y912C;ENSP00000314414:Y926C;ENSP00000440563:Y855C;ENSP00000437413:Y926C	ENSP00000262325:Y912C	Y	+	2	0	AP2B1	31068477	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	6.181000	0.71988	2.304000	0.77564	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1	0	0	0	7	436	0	87	1	9.757851e-01	5	410	0	87	2		0	0	0	0	0	2	1	9.798199e-01	7	430	0	87	2								-6.803926	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.200000	0.080000	1.000000	0.190000	0.287659	0.200000	0	1.300000e-01	3.300000e-01
GAS2L2	246176	broad.mit.edu	37	17	34073243	34073243	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34073243T>A	ENST00000254466.6	-	6	1300	c.1273A>T	c.(1273-1275)Aca>Tca	p.T425S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2			35		Ovarian(249;0.17)			CAGCTGTCTGTTTCTTCATGA	0.582000																								0							SO:0001583	missense			ENST00000254466.6	1	1	hg19	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	5.545	0.285394	0.10513	.	.	ENSG00000132139	ENST00000254466	T	0.18016	2.24	4.97	2.76	0.32466	.	0.820742	0.10977	N	0.613112	T	0.11836	0.0288	L	0.51422	1.61	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.27938	-1.0059	10	0.10377	T	0.69	-0.3814	3.8482	0.08943	0.0:0.1962:0.1864:0.6173	.	425	Q8NHY3	GA2L2_HUMAN	S	425	ENSP00000254466:T425S	ENSP00000254466:T425S	T	-	1	0	GAS2L2	31097356	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.053000	0.11846	0.496000	0.27904	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	1	0	1	101	849	0	176	0	3.221515e-02	0	3	0	176	2		0	0	0	0	0	2	1	1	100	824	0	172	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999737	0.990000	1	9.900000e-01	1
TAF15	8148	broad.mit.edu	37	17	34147406	34147406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34147406C>T	ENST00000588240.1	+	5	370	c.255C>T	c.(253-255)aaC>aaT	p.N85N	AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Silent_p.N82N|TAF15_ENST00000592237.1_5'UTR	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		TAF15/NR4A3(33)	5		Ovarian(249;0.17)			CATATAATAACCAGGGACAGC	0.358000			T	TEC, CHN1, ZNF384	extraskeletal myxoid chondrosarcomas, ALL										Dom	yes		17	17q11.1-q11.2	8148	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		L, M	0							SO:0001819	synonymous_variant			ENST00000588240.1	1	0	hg19	CCDS32623.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	0	0	1	68	310	0	79	1	1	183	446	0	79	2		0	0	0	0	0	2	1	1	66	306	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF15	8148	broad.mit.edu	37	17	34171486	34171486	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171486C>T	ENST00000588240.1	+	15	1298	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TAF15_ENST00000311979.3_Missense_Mutation_p.R392W|TAF15_ENST00000592237.1_Missense_Mutation_p.R304W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		TAF15/NR4A3(33)	5		Ovarian(249;0.17)			TGCAGATTTCCGGGGGAGAGG	0.542000			T	TEC, CHN1, ZNF384	extraskeletal myxoid chondrosarcomas, ALL										Dom	yes		17	17q11.1-q11.2	8148	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		L, M	0							SO:0001583	missense			ENST00000588240.1	1	1	hg19	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915436	0.33815	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.0	4.01	0.46588	.	.	.	.	.	T	0.30135	0.0755	N	0.08118	0	0.38188	D	0.939823	B;B	0.24618	0.065;0.107	B;B	0.13407	0.004;0.009	T	0.19063	-1.0317	8	0.66056	D	0.02	-5.036	8.4932	0.33112	0.1747:0.6565:0.1688:0.0	.	395;392	Q92804;Q92804-2	RBP56_HUMAN;.	W	395;198	.	ENSP00000309558:R395W	R	+	1	2	TAF15	31195599	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	4.587000	0.60991	1.090000	0.41315	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	1	0	1	184	720	0	169	1	1	88	274	0	169	2		0	0	0	0	0	2	1	1	181	696	0	166	2								-2.957799	1	1	121404	2	36	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF15	8148	broad.mit.edu	37	17	34171925	34171925	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171925A>G	ENST00000588240.1	+	15	1737	c.1622A>G	c.(1621-1623)tAc>tGc	p.Y541C	TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C|TAF15_ENST00000592237.1_Missense_Mutation_p.T346A	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		TAF15/NR4A3(33)	5		Ovarian(249;0.17)			GGCAGTGGCTACGGTGGAGAC	0.622000			T	TEC, CHN1, ZNF384	extraskeletal myxoid chondrosarcomas, ALL										Dom	yes		17	17q11.1-q11.2	8148	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa		L, M	0							SO:0001583	missense			ENST00000588240.1	1	1	hg19	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466511	0.26335	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.84	-0.218	0.13142	.	.	.	.	.	T	0.28532	0.0706	L	0.29908	0.895	0.09310	N	0.999999	P;P	0.44816	0.758;0.844	B;P	0.46479	0.319;0.518	T	0.17198	-1.0377	8	0.87932	D	0	0.1347	4.7692	0.13148	0.2856:0.0:0.526:0.1884	.	541;538	Q92804;Q92804-2	RBP56_HUMAN;.	C	541;344	.	ENSP00000309558:Y541C	Y	+	2	0	TAF15	31196038	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	0.653000	0.24902	0.048000	0.15891	0.482000	0.46254	TAC		TCGA-IB-7651-01A-11D-2154-08	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	0	0	1	105	438	1	90	1	1	247	593	1	90	28		0	0	0	0	0	2	1	1	94	406	1	85	19								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf66	0	broad.mit.edu	37	17	34182341	34182341	+	Missense_Mutation	SNP	G	G	T	rs2306630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34182341G>T	ENST00000311880.2	-	15	1587	c.1439C>A	c.(1438-1440)tCt>tAt	p.S480Y	C17orf66_ENST00000592980.1_Missense_Mutation_p.S440Y	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		p.S480F(1)		38		Ovarian(249;0.17)			CTCATATACAGAGAGAACCTT	0.428000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000311880.2	1	0	hg19	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	A	0.107	-1.143189	0.01728	.	.	ENSG00000172653	ENST00000311880	T	0.45276	0.9	4.08	2.99	0.34606	.	0.309092	0.23631	N	0.046139	T	0.16471	0.0396	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33979	-0.9847	9	0.02654	T	1	.	6.0215	0.19632	0.785:0.0:0.215:0.0	.	440;480	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	Y	480	ENSP00000309560:S480Y	ENSP00000309560:S480Y	S	-	2	0	C17orf66	31206454	0.008000	0.16893	0.002000	0.10522	0.006000	0.05464	0.087000	0.14958	0.235000	0.21160	-1.434000	0.01081	TCT		TCGA-IB-7651-01A-11D-2154-08	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1	1	0	1	89	385	0	84	0	0	0	1	0	84	2		0	0	0	0	0	2	1	1	88	378	0	83	2								-1.131396	0	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPV3	162514	broad.mit.edu	37	17	3430170	3430170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3430170C>T	ENST00000576742.1	-	12	1876	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N|TRPV3_ENST00000301365.4_Missense_Mutation_p.D519N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3			35				Menthol(DB00825)	AACCAGGCATCCGAGAGGATG	0.572000																								0							SO:0001583	missense			ENST00000576742.1	1	1	hg19	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	33	5.217613	0.95104	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.98717	-5.09	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	D	0.98416	0.9473	L	0.33189	0.99	0.44352	D	0.997246	D;P;D;D;D;D;D;D	0.89917	1.0;0.607;0.975;1.0;0.975;0.996;0.999;0.998	D;B;P;D;D;D;D;D	0.91635	0.998;0.12;0.893;0.999;0.919;0.993;0.997;0.995	D	0.99914	1.1215	10	0.72032	D	0.01	-9.1066	17.5751	0.87946	0.0:1.0:0.0:0.0	.	101;503;503;519;503;519;519;519	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	N	519;519;503	ENSP00000301365:D519N	ENSP00000301365:D519N	D	-	1	0	TRPV3	3376920	0.999000	0.42202	0.950000	0.38849	0.968000	0.65278	5.187000	0.65087	2.482000	0.83794	0.638000	0.83543	GAT		TCGA-IB-7651-01A-11D-2154-08	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	1	0	1	19	65	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.999958e-01	19	64	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
CCL16	6360	broad.mit.edu	37	17	34308401	34308401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34308401G>A	ENST00000293275.3	-	1	131	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16			3		Ovarian(249;0.17)			GCGAGAAGCCGAAGTAATGAT	0.572000																								0							SO:0001583	missense			ENST00000293275.3	0	1	hg19	CCDS11303.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.41	2.527350	0.44969	.	.	ENSG00000161573	ENST00000293275	T	0.02837	4.14	3.76	1.64	0.23874	.	.	.	.	.	T	0.02267	0.0070	L	0.38692	1.165	0.09310	N	1	B	0.30146	0.27	B	0.14023	0.01	T	0.44892	-0.9298	9	0.37606	T	0.19	.	4.3932	0.11350	0.13:0.238:0.6319:0.0	.	19	O15467	CCL16_HUMAN	L	19	ENSP00000293275:S19L	ENSP00000293275:S19L	S	-	2	0	CCL16	31332514	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.391000	0.20784	0.864000	0.35578	0.462000	0.41574	TCG		TCGA-IB-7651-01A-11D-2154-08	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	0	0	0	4	68	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	8.923215e-01	4	68	0	19	2								-7.855964	1	0	121410	2	26	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.740000	0.250000	1.000000	1.000000	0.733025	0.740000	0	4.500000e-01	1
TRPV3	162514	broad.mit.edu	37	17	3435984	3435984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3435984C>T	ENST00000576742.1	-	8	1353	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	TRPV3_ENST00000572519.1_Silent_p.P344P|TRPV3_ENST00000301365.4_Silent_p.P344P	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3			35				Menthol(DB00825)	CCAGCTGCAGCGGCGTGAGGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000576742.1	1	1	hg19	CCDS11029.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	1	0	1	34	205	0	40	0	2.160420e-02	1	1	0	40	2		0	0	0	0	0	2	1	1	32	201	0	40	2								-16.843660	1	1	121412	22	41	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999931	0.990000	1	9.900000e-01	1
CCL3	6348	broad.mit.edu	37	17	34416585	34416585	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34416585C>A	ENST00000225245.5	-	2	214	c.132G>T	c.(130-132)caG>caT	p.Q44H	AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3			6		Ovarian(249;0.17)			CTATGAAATTCTGTGGAATCT	0.552000																								0							SO:0001583	missense			ENST00000225245.5	1	1	hg19	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.023500	0.54683	.	.	ENSG00000006075	ENST00000225245	T	0.04917	3.53	5.4	-7.67	0.01272	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.283240	0.04979	N	0.465208	T	0.04634	0.0126	.	.	.	0.09310	N	1	P	0.41710	0.76	P	0.48598	0.583	T	0.36286	-0.9754	9	0.15499	T	0.54	.	0.8445	0.01158	0.2082:0.2022:0.1744:0.4152	.	44	P10147	CCL3_HUMAN	H	44	ENSP00000225245:Q44H	ENSP00000225245:Q44H	Q	-	3	2	CCL3	31440698	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.603000	0.05674	-1.016000	0.03371	-0.948000	0.02665	CAG		TCGA-IB-7651-01A-11D-2154-08	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	1	0	1	109	532	0	112	0	9.903273e-01	0	37	0	112	2		0	0	0	0	0	2	1	1	104	488	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNHIT3	9326	broad.mit.edu	37	17	34849821	34849821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34849821G>A	ENST00000225410.4	+	4	322	c.257G>A	c.(256-258)aGa>aAa	p.R86K	ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000588253.1_5'UTR|RNA5SP439_ENST00000517103.1_RNA|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R86K	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3			3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)		GAAGAAGACAGAGTTTCTTTG	0.353000													Pancreas(89;112 2361 26810)											0							SO:0001583	missense			ENST00000225410.4	1	1	hg19	CCDS11312.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250359	0.59212	0.0	1.16E-4	ENSG00000108278	ENST00000225410	.	.	.	6.02	6.02	0.97574	.	0.040436	0.85682	D	0.000000	T	0.41696	0.1170	L	0.46741	1.465	0.80722	D	1	P	0.48503	0.911	B	0.39185	0.293	T	0.43637	-0.9379	9	0.02654	T	1	-16.3055	16.0408	0.80680	0.0:0.0:1.0:0.0	.	86	Q15649	ZNHI3_HUMAN	K	86	.	ENSP00000225410:R86K	R	+	2	0	ZNHIT3	31923934	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.606000	0.54095	2.865000	0.98341	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	0	0	0	13	528	0	90	1	9.870805e-01	16	279	0	90	2		0	0	0	0	0	2	1	9.995119e-01	13	523	0	90	2								-2.665588	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.300000	0.160000	1.000000	0.280000	0.371106	0.300000	0	2.200000e-01	4.300000e-01
MYO19	80179	broad.mit.edu	37	17	34859841	34859841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34859841G>A	ENST00000431794.3	-	20	2447	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	MYO19_ENST00000268852.9_Missense_Mutation_p.A442V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX			20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)		GAGGCCACAGGCCTCCAGCTG	0.632000																								0							SO:0001583	missense			ENST00000431794.3	0	1	hg19	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427773	0.96131	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.95307	-2.29;-3.67	5.48	5.48	0.80851	Myosin head, motor domain (2);	.	.	.	.	D	0.97498	0.9181	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98029	1.0375	9	0.72032	D	0.01	.	17.8969	0.88891	0.0:0.0:1.0:0.0	.	642;442	Q96H55;Q96H55-4	MYO19_HUMAN;.	V	642;442	ENSP00000409936:A642V;ENSP00000268852:A442V	ENSP00000268852:A442V	A	-	2	0	MYO19	31933954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.863000	0.92288	2.576000	0.86940	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	0	0	0	6	28	0	8	1	9.866639e-01	16	27	0	8	2		0	0	0	0	0	2	1	9.698414e-01	6	28	0	8	2								-13.829150	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.820000	1.000000	1.000000	0.989679	0.990000	1	9.900000e-01	1
TRPV1	7442	broad.mit.edu	37	17	3486644	3486644	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3486644G>T	ENST00000571088.1	-	9	1677	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L	TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|TRPV1_ENST00000174621.6_Missense_Mutation_p.F486L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F428L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1			17				Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCGGAAAAAGAAGTAGACTC	0.433000													Melanoma(38;962 1762 15789)											0							SO:0001583	missense			ENST00000571088.1	1	1	hg19	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411757	0.25465	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.17	-0.805	0.10879	.	0.046853	0.85682	D	0.000000	D	0.87529	0.6200	L	0.43923	1.385	0.54753	D	0.999989	B;B;B;B	0.19200	0.002;0.034;0.017;0.018	B;B;B;B	0.18561	0.02;0.022;0.019;0.015	T	0.75628	-0.3252	10	0.21540	T	0.41	-13.2472	10.7786	0.46365	0.4285:0.0:0.5715:0.0	.	488;486;428;499	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	L	488;488;486;499;428	ENSP00000382661:F488L;ENSP00000382659:F488L;ENSP00000174621:F486L;ENSP00000409627:F499L;ENSP00000311692:F428L	ENSP00000174621:F486L	F	-	3	2	TRPV1	3433393	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.302000	0.33459	-0.007000	0.14345	-0.302000	0.09304	TTC		TCGA-IB-7651-01A-11D-2154-08	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	1	0	1	15	55	0	16	0	5.499356e-01	1	7	0	16	2		0	0	0	0	0	2	1	9.999258e-01	15	54	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999897	0.990000	1	9.900000e-01	1
PIGW	284098	broad.mit.edu	37	17	34893890	34893890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34893890G>A	ENST00000592983.1	+	2	1520	c.940G>A	c.(940-942)Gca>Aca	p.A314T	PIGW_ENST00000328396.2_Missense_Mutation_p.A314T|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W			13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)		GGGGTATGTGGCAATACACAT	0.423000																								0							SO:0001583	missense			ENST00000592983.1	1	1	hg19	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794035	0.50102	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.18	2.9	0.33743	.	0.055454	0.64402	N	0.000001	T	0.63070	0.2480	M	0.69358	2.11	0.58432	D	0.999999	B	0.29162	0.235	B	0.39068	0.289	T	0.57388	-0.7820	8	.	.	.	-1.7743	11.1881	0.48669	0.1645:0.0:0.8355:0.0	.	314	Q7Z7B1	PIGW_HUMAN	T	314	.	.	A	+	1	0	PIGW	31968003	1.000000	0.71417	0.942000	0.38095	0.985000	0.73830	4.335000	0.59298	0.533000	0.28675	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	1	0	1	18	356	0	74	1	6.308743e-01	7	36	0	74	2		0	0	0	0	0	2	1	9.999802e-01	18	349	0	73	2								-4.922891	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.590000	0.360000	1.000000	0.570000	0.632297	0.590000	0	4.600000e-01	8.000000e-01
PIGW	284098	broad.mit.edu	37	17	34894032	34894032	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34894032T>C	ENST00000592983.1	+	2	1662	c.1082T>C	c.(1081-1083)gTa>gCa	p.V361A	PIGW_ENST00000328396.2_Missense_Mutation_p.V361A|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W			13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)		CAAGTAAATGTAGAAGCAGTA	0.348000																								0							SO:0001583	missense			ENST00000592983.1	1	1	hg19	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079745	0.36662	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.49	5.49	0.81192	.	0.522372	0.19962	N	0.102182	T	0.35248	0.0925	L	0.33339	1.005	0.30931	N	0.726925	B	0.17667	0.023	B	0.21151	0.033	T	0.30707	-0.9969	8	.	.	.	-1.2408	9.4746	0.38864	0.0:0.0876:0.0:0.9124	.	361	Q7Z7B1	PIGW_HUMAN	A	361	.	.	V	+	2	0	PIGW	31968145	0.997000	0.39634	0.990000	0.47175	0.992000	0.81027	2.992000	0.49417	2.216000	0.71823	0.459000	0.35465	GTA		TCGA-IB-7651-01A-11D-2154-08	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	1	0	1	42	197	0	45	1	9.874736e-01	12	23	0	45	2		0	0	0	0	0	2	1	1	42	196	0	45	2								-19.999870	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPV1	7442	broad.mit.edu	37	17	3493604	3493604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493604C>A	ENST00000571088.1	-	5	900	c.687G>T	c.(685-687)caG>caT	p.Q229H	TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000174621.6_Missense_Mutation_p.Q227H|TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000310522.5_Missense_Mutation_p.Q229H	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1			17				Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGGCCGCAGCCTGGACGTCTG	0.582000													Melanoma(38;962 1762 15789)											0							SO:0001583	missense			ENST00000571088.1	1	1	hg19	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	0.208	-1.038881	0.02013	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.12	4.04	0.47022	Ankyrin repeat-containing domain (4);	0.047547	0.85682	D	0.000000	T	0.29556	0.0737	N	0.02286	-0.61	0.34797	D	0.736369	B;B;B;B	0.12013	0.001;0.001;0.001;0.005	B;B;B;B	0.11329	0.002;0.004;0.003;0.006	T	0.38045	-0.9679	10	0.02654	T	1	-12.4387	10.4822	0.44700	0.3709:0.6291:0.0:0.0	.	229;227;229;229	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	H	229;229;227;229;229	ENSP00000382661:Q229H;ENSP00000382659:Q229H;ENSP00000174621:Q227H;ENSP00000409627:Q229H;ENSP00000311692:Q229H	ENSP00000174621:Q227H	Q	-	3	2	TRPV1	3440353	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	0.683000	0.25349	2.555000	0.86185	0.467000	0.42956	CAG		TCGA-IB-7651-01A-11D-2154-08	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	1	0	1	43	368	0	71	1	3.700088e-01	2	10	0	71	2		0	0	0	0	0	2	1	1	42	362	0	71	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.920000	1.000000	1.000000	0.995805	0.990000	1	9.900000e-01	1
SHPK	23729	broad.mit.edu	37	17	3514153	3514153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3514153C>T	ENST00000225519.3	-	7	1240	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase			16					GCCAGCTGGTCCGGCAGGTGC	0.602000																								0							SO:0001583	missense			ENST00000225519.3	1	1	hg19	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104741	0.37145	.	.	ENSG00000197417	ENST00000225519	T	0.18657	2.2	5.2	5.2	0.72013	.	0.332700	0.35179	N	0.003389	T	0.22360	0.0539	L	0.55990	1.75	0.29187	N	0.876141	B	0.20671	0.047	B	0.20955	0.032	T	0.15694	-1.0428	10	0.11182	T	0.66	-25.8882	18.1093	0.89530	0.0:1.0:0.0:0.0	.	380	Q9UHJ6	SHPK_HUMAN	N	380	ENSP00000225519:D380N	ENSP00000225519:D380N	D	-	1	0	SHPK	3460902	0.942000	0.31987	0.971000	0.41717	0.805000	0.45488	1.863000	0.39459	2.606000	0.88127	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2	1	0	0	96	460	0	93	1	9.988430e-01	12	38	0	93	2		0	0	0	0	0	2	1	1	93	452	0	90	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LHX1	3975	broad.mit.edu	37	17	35297966	35297966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35297966G>A	ENST00000254457.5	+	3	1868	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1			16		Breast(25;0.00607)			GCAGGACGACGCCAAGGACTC	0.652000																								0							SO:0001583	missense			ENST00000254457.5	1	1	hg19	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290446	0.59976	.	.	ENSG00000132130	ENST00000254457	D	0.90676	-2.71	4.26	4.26	0.50523	.	0.072744	0.53938	D	0.000042	T	0.81088	0.4750	N	0.08118	0	0.58432	D	0.999994	B;B	0.15141	0.012;0.009	B;B	0.11329	0.006;0.002	T	0.74968	-0.3483	10	0.18710	T	0.47	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	139;153	B4DPA6;P48742	.;LHX1_HUMAN	T	153	ENSP00000254457:A153T	ENSP00000254457:A153T	A	+	1	0	LHX1	32372079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.524000	0.60552	2.648000	0.89879	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	1	0	1	60	292	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	60	288	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LHX1	3975	broad.mit.edu	37	17	35298099	35298099	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35298099C>T	ENST00000254457.5	+	3	2001	c.590C>T	c.(589-591)gCc>gTc	p.A197V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1			16		Breast(25;0.00607)			ACGCTGAAGGCCGCCTTCGCT	0.667000																								0							SO:0001583	missense			ENST00000254457.5	1	1	hg19	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	36	5.806526	0.96967	.	.	ENSG00000132130	ENST00000254457	D	0.96522	-4.04	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	L	0.47190	1.495	0.80722	D	1	P;D	0.59767	0.952;0.986	P;D	0.63033	0.884;0.91	D	0.97090	0.9790	10	0.59425	D	0.04	.	17.9822	0.89145	0.0:1.0:0.0:0.0	.	183;197	B4DPA6;P48742	.;LHX1_HUMAN	V	197	ENSP00000254457:A197V	ENSP00000254457:A197V	A	+	2	0	LHX1	32372212	1.000000	0.71417	0.792000	0.32020	0.997000	0.91878	5.871000	0.69628	2.648000	0.89879	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	1	0	1	34	105	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	1	34	105	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACA	31	broad.mit.edu	37	17	35446008	35446008	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35446008G>T	ENST00000394406.2	-	55	6972	c.6782C>A	c.(6781-6783)gCt>gAt	p.A2261D	ACACA_ENST00000353139.5_Splice_Site_p.A2298D|ACACA_ENST00000361253.5_Splice_Site_p.A387D|ACACA_ENST00000360679.3_Splice_Site_p.A2203D|ACACA_ENST00000335166.5_Splice_Site_p.A2183D	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha			83		Breast(25;0.00157)|Ovarian(249;0.15)		Biotin(DB00121)	CCAAACATAAGCCTGCAAACA	0.493000													Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0							SO:0001630	splice_region_variant			ENST00000394406.2	1	0	hg19	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771870	0.69992	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	L	0.46157	1.445	0.80722	D	1	P;P;D;P;B	0.53312	0.948;0.9;0.959;0.738;0.164	P;P;P;B;B	0.54706	0.593;0.743;0.759;0.252;0.115	T	0.43163	-0.9408	10	0.23891	T	0.37	-12.9246	20.2033	0.98269	0.0:0.0:1.0:0.0	.	299;960;2298;2261;2203	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	D	2298;2203;2261;2285;2183;960;387	ENSP00000344789:A2298D;ENSP00000353898:A2203D;ENSP00000377928:A2261D;ENSP00000335323:A2183D;ENSP00000354565:A387D	ENSP00000335323:A2183D	A	-	2	0	ACACA	32520121	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.724000	0.74747	2.779000	0.95612	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	1	0	1	136	584	0	154	1	9.839979e-01	7	23	0	154	2		0	0	0	0	0	2	1	1	134	569	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACACA	31	broad.mit.edu	37	17	35454098	35454098	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35454098T>C	ENST00000394406.2	-	54	6803	c.6613A>G	c.(6613-6615)Atc>Gtc	p.I2205V	ACACA_ENST00000353139.5_Missense_Mutation_p.I2242V|ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V|ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha			83		Breast(25;0.00157)|Ovarian(249;0.15)		Biotin(DB00121)	CAATCCAGGATATCCTACATG	0.483000													Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0							SO:0001583	missense			ENST00000394406.2	1	1	hg19	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.65	5.65	0.86999	Carboxyl transferase (1);	0.048645	0.85682	D	0.000000	T	0.14527	0.0351	N	0.25789	0.76	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.16289	0.002;0.015;0.003;0.001;0.0	T	0.08027	-1.0742	10	0.02654	T	1	-15.445	9.0636	0.36449	0.0:0.1424:0.0:0.8576	.	243;904;2242;2205;2147	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	V	2242;2147;2205;2229;2127;904;331	ENSP00000344789:I2242V;ENSP00000353898:I2147V;ENSP00000377928:I2205V;ENSP00000335323:I2127V;ENSP00000354565:I331V	ENSP00000335323:I2127V	I	-	1	0	ACACA	32528211	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.479000	0.53165	2.152000	0.67230	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	0	0	0	38	220	0	46	1	9.808603e-01	6	33	0	46	2		0	0	0	0	0	2	1	1	37	214	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
ACACA	31	broad.mit.edu	37	17	35486405	35486405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35486405G>A	ENST00000394406.2	-	47	5909	c.5719C>T	c.(5719-5721)Cac>Tac	p.H1907Y	ACACA_ENST00000353139.5_Missense_Mutation_p.H1944Y|ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y|ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha			83		Breast(25;0.00157)|Ovarian(249;0.15)		Biotin(DB00121)	ACTGAACTGTGCACGCTCTAA	0.478000													Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0							SO:0001583	missense			ENST00000394406.2	1	1	hg19	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345306	0.24426	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43	5.24	0.302	0.15786	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.757705	0.13474	N	0.385185	D	0.89181	0.6642	N	0.04959	-0.14	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.81709	-0.0809	10	0.51188	T	0.08	1.3312	4.0255	0.09685	0.5187:0.0:0.3028:0.1785	.	606;1944;1907;1849	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	Y	1944;1849;1907;1931;1829;606;33	ENSP00000344789:H1944Y;ENSP00000353898:H1849Y;ENSP00000377928:H1907Y;ENSP00000335323:H1829Y;ENSP00000354565:H33Y	ENSP00000335323:H1829Y	H	-	1	0	ACACA	32560518	0.155000	0.22806	0.295000	0.24960	0.978000	0.69477	0.739000	0.26173	0.118000	0.18165	0.591000	0.81541	CAC		TCGA-IB-7651-01A-11D-2154-08	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	1	0	1	24	178	0	35	1	6.823749e-01	2	17	0	35	2		0	0	0	0	0	2	1	9.999997e-01	23	175	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.940000	1.000000	1.000000	0.996644	0.990000	1	9.900000e-01	1
ACACA	31	broad.mit.edu	37	17	35549147	35549147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35549147C>T	ENST00000394406.2	-	37	4379	c.4189G>A	c.(4189-4191)Gct>Act	p.A1397T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1434T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha			83		Breast(25;0.00157)|Ovarian(249;0.15)		Biotin(DB00121)	TTGTGATTAGCACATGGAATG	0.493000													Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0							SO:0001583	missense			ENST00000394406.2	1	1	hg19	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338998	0.60963	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.68	5.68	0.88126	Acetyl-CoA carboxylase, central domain (1);	0.103647	0.64402	D	0.000004	T	0.56277	0.1974	M	0.77616	2.38	0.80722	D	1	P;P;B;B	0.40553	0.721;0.624;0.071;0.058	P;P;B;B	0.47864	0.559;0.46;0.039;0.037	T	0.50516	-0.8819	10	0.19590	T	0.45	-13.5938	19.4103	0.94670	0.0:1.0:0.0:0.0	.	145;1434;1397;1339	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	T	1434;1339;1397;1421;1319;145	ENSP00000344789:A1434T;ENSP00000353898:A1339T;ENSP00000377928:A1397T;ENSP00000335323:A1319T	ENSP00000335323:A1319T	A	-	1	0	ACACA	32623260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.669000	0.90835	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	1	0	1	44	287	0	81	1	7.128611e-01	5	13	0	81	2		0	0	0	0	0	2	1	1	44	281	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
CTNS	1497	broad.mit.edu	37	17	3559853	3559853	+	Silent	SNP	C	C	T	rs113967200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3559853C>T	ENST00000046640.3	+	8	1127	c.534C>T	c.(532-534)atC>atT	p.I178I	CTNS_ENST00000381870.3_Silent_p.I178I|CTNS_ENST00000414524.2_Silent_p.I31I|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Silent_p.I70I	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter			10				L-Cystine(DB00138)	TATTCAACATCGGCCTCCTCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000046640.3	1	1	hg19	CCDS11031.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	1	0	1	45	186	0	41	1	9.998491e-01	9	49	0	41	2		0	0	0	0	0	2	1	1	44	182	0	40	2								-3.667825	1	1	121398	24	45	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TADA2A	6871	broad.mit.edu	37	17	35837053	35837053	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35837053T>A	ENST00000394395.2	+	16	1471	c.1298T>A	c.(1297-1299)tTc>tAc	p.F433Y	TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A			13					ATCTATGATTTCCTCATCAGA	0.443000																								0							SO:0001583	missense			ENST00000394395.2	1	1	hg19	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	T	31	5.071877	0.93950	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.47869	0.83;0.83	5.71	5.71	0.89125	Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.70809	-0.4771	10	0.38643	T	0.18	-16.576	15.9804	0.80105	0.0:0.0:0.0:1.0	.	433	O75478	TAD2A_HUMAN	Y	433;332;433	ENSP00000377918:F433Y;ENSP00000225396:F433Y	ENSP00000225396:F433Y	F	+	2	0	TADA2A	32911166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.176000	0.68965	0.455000	0.32223	TTC		TCGA-IB-7651-01A-11D-2154-08	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	1	0	1	194	681	0	189	1	9.997195e-01	10	34	0	189	2		0	0	0	0	0	2	1	1	194	658	0	189	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP14	11072	broad.mit.edu	37	17	35872880	35872880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35872880C>T	ENST00000487847.1	+	2	1484	c.506C>T	c.(505-507)tCg>tTg	p.S169L	DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L|DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L			O95147	DUS14_HUMAN	dual specificity phosphatase 14			9		Breast(25;0.00637)|Ovarian(249;0.15)			TTTGGGAAGTCGACAGTTAAA	0.537000																								0							SO:0001583	missense			ENST00000487847.1	1	1	hg19	CCDS11320.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.32	2.798010	0.50208	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.62232	0.04;0.04	5.97	5.97	0.96955	.	0.112497	0.56097	D	0.000034	T	0.48132	0.1483	N	0.19112	0.55	0.38696	D	0.952888	B	0.23735	0.09	B	0.10450	0.005	T	0.50882	-0.8775	10	0.87932	D	0	.	13.7953	0.63166	0.2676:0.7324:0.0:0.0	.	169	O95147	DUS14_HUMAN	L	169	ENSP00000377912:S169L;ENSP00000377910:S169L	ENSP00000377910:S169L	S	+	2	0	DUSP14	32946993	0.903000	0.30736	0.971000	0.41717	0.987000	0.75469	1.805000	0.38883	2.833000	0.97629	0.585000	0.79938	TCG		TCGA-IB-7651-01A-11D-2154-08	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	1	0	1	74	327	0	72	1	9.999989e-01	19	71	0	72	2		0	0	0	0	0	2	1	1	73	323	0	71	2								-20.000000	1	1	121412	2	34	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNRG	11276	broad.mit.edu	37	17	35896132	35896132	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35896132G>A	ENST00000339208.6	-	19	3755	c.3615C>T	c.(3613-3615)atC>atT	p.I1205I	SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000591288.1_Silent_p.I999I|SYNRG_ENST00000394378.2_Silent_p.I1127I|SYNRG_ENST00000345615.4_Silent_p.I1127I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma			36					ATACTTTATCGATGTCCTTCA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000339208.6	1	1	hg19	CCDS11321.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	0	0	1	45	225	0	67	1	9.992457e-01	8	49	0	67	2		0	0	0	0	0	2	1	1	45	218	0	67	2								-19.999840	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNRG	11276	broad.mit.edu	37	17	35913384	35913384	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35913384T>C	ENST00000339208.6	-	14	2581	c.2441A>G	c.(2440-2442)gAt>gGt	p.D814G	SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000588194.1_5'Flank|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G|SYNRG_ENST00000394378.2_Missense_Mutation_p.D736G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma			36					GGAAGGGAGATCTAAGGACTT	0.463000																								0							SO:0001583	missense			ENST00000339208.6	1	1	hg19	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822171	0.71028	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.65732	0.4;-0.17;-0.11	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998;0.998	T	0.79019	-0.1974	10	0.72032	D	0.01	-16.6853	15.7569	0.78037	0.0:0.0:0.0:1.0	.	653;736;736;736;814;814	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	G	814;653;814;736;736	ENSP00000005279:D814G;ENSP00000424893:D736G;ENSP00000377903:D736G	ENSP00000343610:D653G	D	-	2	0	SYNRG	32987497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	1	0	1	94	308	0	86	1	9.998784e-01	7	39	0	86	2		0	0	0	0	0	2	1	1	89	301	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNRG	11276	broad.mit.edu	37	17	35914119	35914119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35914119C>T	ENST00000339208.6	-	14	1846	c.1706G>A	c.(1705-1707)gGt>gAt	p.G569D	SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000394378.2_Missense_Mutation_p.G491D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma			36					ATCGGTGAAACCATCATCAGT	0.398000																								0							SO:0001583	missense			ENST00000339208.6	1	1	hg19	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863236	0.71949	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T	0.58652	0.89;1.43;0.32;0.34	6.08	6.08	0.98989	.	0.149646	0.64402	D	0.000011	T	0.74253	0.3692	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.995;1.0;1.0;1.0;1.0;1.0	T	0.69749	-0.5061	10	0.39692	T	0.17	-18.8664	19.6516	0.95815	0.0:1.0:0.0:0.0	.	408;491;491;491;569;569	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	D	569;408;569;491;491	ENSP00000005279:G569D;ENSP00000343610:G408D;ENSP00000424893:G491D;ENSP00000377903:G491D	ENSP00000343610:G408D	G	-	2	0	SYNRG	32988232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	1	0	1	72	450	0	102	1	9.990173e-01	17	49	0	102	2		0	0	0	0	0	2	1	1	72	440	0	101	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GSG2	83903	broad.mit.edu	37	17	3628546	3628546	+	Silent	SNP	C	C	A	rs143089901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628546C>A	ENST00000325418.4	+	1	1336	c.1317C>A	c.(1315-1317)tcC>tcA	p.S439S	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)								GGCACTCCTCCTCTATGTATT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000325418.4	1	1	hg19	CCDS11036.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	1	0	0	52	509	0	115	0	2.519858e-02	1	2	0	115	2		0	0	0	0	0	2	1	1	52	500	0	115	2								-14.681450	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.840000	1.000000	1.000000	0.984525	0.990000	1	9.700000e-01	1
GSG2	83903	broad.mit.edu	37	17	3628844	3628844	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628844T>C	ENST00000325418.4	+	1	1634	c.1615T>C	c.(1615-1617)Tcc>Ccc	p.S539P	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)								GATCATCATCTCCAAAGAGTT	0.473000																								0							SO:0001583	missense			ENST00000325418.4	1	1	hg19	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734608	0.69189	.	.	ENSG00000177602	ENST00000325418	T	0.66099	-0.19	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218716	0.30356	N	0.009804	T	0.74275	0.3695	L	0.58428	1.81	0.51482	D	0.999925	D	0.89917	1.0	D	0.74023	0.982	T	0.77112	-0.2708	10	0.87932	D	0	-29.5602	12.8971	0.58106	0.0:0.0:0.0:1.0	.	539	Q8TF76	HASP_HUMAN	P	539	ENSP00000325290:S539P	ENSP00000325290:S539P	S	+	1	0	GSG2	3575593	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.871000	0.69628	2.139000	0.66308	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	0	0	1	74	361	1	79	1	2.755991e-01	4	2	1	79	2		0	0	0	0	0	2	1	1	73	357	1	79	18								-3.346614	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGAE	3682	broad.mit.edu	37	17	3632827	3632827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3632827C>A	ENST00000263087.4	-	24	2955	c.2857G>T	c.(2857-2859)Gcc>Tcc	p.A953S	CTD-3195I5.4_ENST00000575043.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)			41					GTCTCGTTGGCCAAAGACCGT	0.493000													NSCLC(182;635 2928 8995 38788)											0							SO:0001583	missense			ENST00000263087.4	1	1	hg19	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637074	0.14386	.	.	ENSG00000083457	ENST00000263087	T	0.43294	0.95	4.19	3.17	0.36434	Integrin alpha-2 (1);	.	.	.	.	T	0.28333	0.0700	L	0.36672	1.1	0.09310	N	1	P	0.47191	0.891	B	0.40199	0.322	T	0.05007	-1.0912	9	0.09338	T	0.73	.	9.5334	0.39207	0.2294:0.7706:0.0:0.0	.	953	P38570	ITAE_HUMAN	S	953	ENSP00000263087:A953S	ENSP00000263087:A953S	A	-	1	0	ITGAE	3579576	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.818000	0.27295	1.261000	0.44149	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	1	0	0	70	373	0	93	0	8.801645e-01	0	22	0	93	2		0	0	0	0	0	2	1	1	70	363	0	92	2								-3.081520	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGAE	3682	broad.mit.edu	37	17	3646868	3646868	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3646868C>T	ENST00000263087.4	-	19	2461	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)			41					GAGCTGGTAGCTGACTTTGAC	0.577000													NSCLC(182;635 2928 8995 38788)											0							SO:0001583	missense			ENST00000263087.4	1	1	hg19	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307908	0.01342	.	.	ENSG00000083457	ENST00000263087	T	0.40225	1.04	4.9	0.389	0.16269	Integrin alpha-2 (1);	.	.	.	.	T	0.30572	0.0769	M	0.66939	2.045	0.24812	N	0.992634	B	0.28419	0.211	B	0.28465	0.09	T	0.36648	-0.9739	9	0.02654	T	1	.	3.6759	0.08291	0.1588:0.4428:0.3085:0.0899	.	788	P38570	ITAE_HUMAN	N	788	ENSP00000263087:S788N	ENSP00000263087:S788N	S	-	2	0	ITGAE	3593617	0.953000	0.32496	0.998000	0.56505	0.100000	0.18952	-0.208000	0.09371	-0.052000	0.13311	-0.178000	0.13098	AGC		TCGA-IB-7651-01A-11D-2154-08	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	1	0	1	153	755	0	177	0	9.661655e-01	0	29	0	177	2		0	0	0	0	0	2	1	1	148	717	0	177	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR179	440435	broad.mit.edu	37	17	36484336	36484336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36484336G>T	ENST00000342292.4	-	11	5136	c.5116C>A	c.(5116-5118)Ccc>Acc	p.P1706T	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179			60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)			ACCTCCCAGGGACAGATTTCT	0.532000																								0							SO:0001583	missense			ENST00000342292.4	1	1	hg19	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352287	0.61293	.	.	ENSG00000188888	ENST00000342292	T	0.55930	0.49	5.13	1.97	0.26223	.	0.186936	0.26556	N	0.023703	T	0.60483	0.2272	M	0.72118	2.19	0.31653	N	0.646498	D	0.76494	0.999	P	0.62560	0.904	T	0.63699	-0.6578	10	0.66056	D	0.02	-9.0742	3.3315	0.07085	0.0939:0.1703:0.5596:0.1761	.	1706	Q6PRD1	GP179_HUMAN	T	1706	ENSP00000345060:P1706T	ENSP00000345060:P1706T	P	-	1	0	GPR179	33737862	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	2.563000	0.45922	1.386000	0.46466	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2	1	0	1	115	483	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	113	468	0	101	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRCIN1	80725	broad.mit.edu	37	17	36700182	36700182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36700182G>A	ENST00000264659.7	-	18	3517	c.3293C>T	c.(3292-3294)cCc>cTc	p.P1098L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1			19					CACCTTCATGGGTGGTACACT	0.632000																								0							SO:0001583	missense			ENST00000264659.7	0	1	hg19	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298294	0.60195	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.48836	0.8	5.23	5.23	0.72850	.	0.149056	0.46442	D	0.000293	T	0.41581	0.1165	L	0.50333	1.59	0.53005	D	0.999965	P;P;B	0.41848	0.763;0.557;0.358	B;B;B	0.33960	0.173;0.124;0.124	T	0.38908	-0.9639	10	0.35671	T	0.21	-20.1707	17.5529	0.87881	0.0:0.0:1.0:0.0	.	970;970;1098	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	L	1098;879;993	ENSP00000264659:P1098L	ENSP00000264659:P1098L	P	-	2	0	SRCIN1	33953708	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	7.637000	0.83313	2.425000	0.82216	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	0	0	0	8	44	0	19	0	2.016562e-01	1	4	0	19	2		0	0	0	0	0	2	1	9.913360e-01	8	44	0	18	2								-16.253110	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.850000	1.000000	1.000000	0.991571	0.990000	1	9.900000e-01	1
PIP4K2B	8396	broad.mit.edu	37	17	36926743	36926743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36926743C>T	ENST00000269554.3	-	9	1596	c.1116G>A	c.(1114-1116)acG>acA	p.T372T		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta			19					TATCGTATGGCGTGAGGATAT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000269554.3	1	1	hg19	CCDS11329.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	1	0	0	66	672	0	152	1	9.795642e-01	2	62	0	152	2		0	0	0	0	0	2	1	1	64	632	0	151	2								-16.689780	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.830000	1.000000	1.000000	0.980413	0.990000	1	9.400000e-01	1
CWC25	54883	broad.mit.edu	37	17	36963202	36963202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36963202G>T	ENST00000225428.5	-	7	1015	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)			14					GGACCCTGAAGACCCTGGTTA	0.512000																								0							SO:0001583	missense			ENST00000225428.5	1	1	hg19	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593289	0.13875	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	T;T	0.29655	1.56;1.56	5.27	2.21	0.28008	.	0.579153	0.15532	N	0.257431	T	0.23492	0.0568	L	0.51422	1.61	0.09310	N	1	B;B	0.19583	0.015;0.037	B;B	0.14023	0.01;0.009	T	0.19386	-1.0307	10	0.36615	T	0.2	.	4.5944	0.12322	0.2572:0.1612:0.5816:0.0	.	177;240	B4DJK2;Q9NXE8	.;CWC25_HUMAN	I	240;177	ENSP00000225428:L240I;ENSP00000438566:L177I	ENSP00000225428:L240I	L	-	1	0	CWC25	34216728	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.731000	0.26058	0.373000	0.24621	0.462000	0.41574	CTT		TCGA-IB-7651-01A-11D-2154-08	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	1	0	1	66	308	0	53	1	9.999992e-01	20	78	0	53	2		0	0	0	0	0	2	1	1	64	300	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO47	494188	broad.mit.edu	37	17	37113493	37113493	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37113493T>G	ENST00000378079.2	-	4	565	c.366A>C	c.(364-366)aaA>aaC	p.K122N		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47			20					ATGTGCATCTTTTAAACAGTA	0.318000																								0							SO:0001583	missense			ENST00000378079.2	1	1	hg19	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348317	0.61183	.	.	ENSG00000204952	ENST00000378079	T	0.50277	0.75	5.0	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.71581	2.175	0.40979	D	0.984767	D	0.76494	0.999	D	0.80764	0.994	T	0.64162	-0.6472	10	0.87932	D	0	-3.8362	6.6748	0.23087	0.0:0.2598:0.0:0.7402	.	122	Q5MNV8	FBX47_HUMAN	N	122	ENSP00000367319:K122N	ENSP00000367319:K122N	K	-	3	2	FBXO47	34367019	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.732000	0.26072	0.856000	0.35383	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	1	0	1	95	452	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	94	446	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf85	55421	broad.mit.edu	37	17	3716516	3716516	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3716516T>G	ENST00000389005.4	-	13	1712	c.1685A>C	c.(1684-1686)aAa>aCa	p.K562T	C17orf85_ENST00000158149.3_Missense_Mutation_p.K282T	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85			10					GTGATCCACTTTCTTCGTATT	0.502000																								0							SO:0001583	missense			ENST00000389005.4	1	1	hg19	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159664	0.38119	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.61	5.61	0.85477	.	0.189830	0.56097	D	0.000031	T	0.37433	0.1003	N	0.24115	0.695	0.43896	D	0.996521	B	0.33694	0.421	B	0.24848	0.056	T	0.33189	-0.9878	9	0.51188	T	0.08	-19.2377	14.0665	0.64834	0.0:0.0:0.0:1.0	.	562	Q53F19	CQ085_HUMAN	T	562;282	.	ENSP00000158149:K282T	K	-	2	0	C17orf85	3663265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.725000	0.54970	2.281000	0.76405	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	1	0	1	140	589	0	116	1	9.999951e-01	14	60	0	116	2		0	0	0	0	0	2	1	1	139	573	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf85	55421	broad.mit.edu	37	17	3717766	3717766	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3717766G>A	ENST00000389005.4	-	12	1504	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	C17orf85_ENST00000158149.3_Missense_Mutation_p.R213W	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85			10					TTTCCTAACCGCTGGCGTATA	0.507000																								0							SO:0001583	missense			ENST00000389005.4	0	1	hg19	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993565	0.74703	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.57	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66551	-0.5895	9	0.87932	D	0	-11.0123	11.1156	0.48258	0.0:0.0:0.5113:0.4887	.	493	Q53F19	CQ085_HUMAN	W	493;213	.	ENSP00000158149:R213W	R	-	1	2	C17orf85	3664515	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.328000	0.43867	1.470000	0.48102	-0.321000	0.08615	CGG		TCGA-IB-7651-01A-11D-2154-08	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	0	0	0	7	251	0	38	1	6.681670e-01	2	78	0	38	2		0	0	0	0	0	2	1	9.801955e-01	6	249	0	36	2								-3.176667	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.350000	0.150000	1.000000	0.320000	0.426266	0.350000	0	2.300000e-01	5.700000e-01
C17orf85	55421	broad.mit.edu	37	17	3721599	3721599	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3721599G>T	ENST00000389005.4	-	10	1295	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N	C17orf85_ENST00000158149.3_Missense_Mutation_p.T143N	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85			10					AGCATACATAGTCATTTTCAT	0.338000																								0							SO:0001583	missense			ENST00000389005.4	1	1	hg19	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862316	0.91511	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68911	-0.5284	9	0.66056	D	0.02	-16.0792	17.8291	0.88676	0.0:0.0:1.0:0.0	.	423	Q53F19	CQ085_HUMAN	N	423;143	.	ENSP00000158149:T143N	T	-	2	0	C17orf85	3668348	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.855000	0.92236	2.894000	0.99253	0.591000	0.81541	ACT		TCGA-IB-7651-01A-11D-2154-08	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	1	0	1	81	443	0	62	1	9.949532e-01	5	41	0	62	2		0	0	0	0	0	2	1	1	80	435	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXDC1	57125	broad.mit.edu	37	17	37234180	37234180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234180C>A	ENST00000315392.4	-	11	1383	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1			23					TGTGGTGAGGCTGTCGATGAA	0.607000																								0							SO:0001583	missense			ENST00000315392.4	1	1	hg19	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573369	0.13623	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.43688	0.94;0.94	5.38	3.27	0.37495	.	0.841724	0.11355	N	0.572507	T	0.44664	0.1304	L	0.54323	1.7	0.80722	D	1	P;P	0.46395	0.838;0.877	P;P	0.47470	0.451;0.548	T	0.42292	-0.9460	10	0.59425	D	0.04	-28.3204	8.3469	0.32279	0.0:0.7454:0.162:0.0925	.	351;391	B4E173;Q8IUK5	.;PXDC1_HUMAN	I	391;318;351	ENSP00000323927:S391I;ENSP00000409687:S351I	ENSP00000323927:S391I	S	-	2	0	PLXDC1	34487706	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.321000	0.33678	1.506000	0.48736	-0.165000	0.13383	AGC		TCGA-IB-7651-01A-11D-2154-08	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	1	58	267	0	57	0	9.999988e-01	0	95	0	57	2		0	0	0	0	0	2	1	1	58	259	0	57	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXDC1	57125	broad.mit.edu	37	17	37234253	37234253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234253C>T	ENST00000315392.4	-	11	1310	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1			23					TCAGGGGAGGCTGAGTCGTGG	0.557000																								0							SO:0001583	missense			ENST00000315392.4	1	1	hg19	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	4.894	0.166156	0.09339	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.21734	1.99;1.99	5.2	0.627	0.17675	.	0.467132	0.21120	N	0.079822	T	0.11324	0.0276	N	0.22421	0.69	0.31484	N	0.666856	B;B	0.26935	0.164;0.041	B;B	0.22601	0.04;0.025	T	0.33752	-0.9856	10	0.10377	T	0.69	-11.8196	11.4445	0.50114	0.2013:0.7065:0.0921:0.0	.	327;367	B4E173;Q8IUK5	.;PXDC1_HUMAN	T	367;294;327	ENSP00000323927:A367T;ENSP00000409687:A327T	ENSP00000323927:A367T	A	-	1	0	PLXDC1	34487779	0.111000	0.22076	0.074000	0.20217	0.112000	0.19704	0.621000	0.24418	-0.026000	0.13895	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	1	55	262	1	53	0	9.954720e-01	0	111	1	53	9		0	0	0	0	0	2	1	1	55	255	0	53	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXDC1	57125	broad.mit.edu	37	17	37239786	37239786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37239786C>T	ENST00000315392.4	-	9	1126	c.915G>A	c.(913-915)ctG>ctA	p.L305L	PLXDC1_ENST00000394316.2_Silent_p.L305L|AC091178.1_ENST00000410562.1_RNA|PLXDC1_ENST00000444911.2_Silent_p.L265L|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1			23					TCCTATGCTGCAGGCAGGCTG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000315392.4	1	1	hg19	CCDS11333.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	1	14	90	0	28	0	9.998137e-01	0	103	0	28	2		0	0	0	0	0	2	1	9.998137e-01	14	89	0	28	2								-19.999740	1	1	121398	3	30	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.930000	1.000000	1.000000	0.995652	0.990000	1	9.900000e-01	1
PLXDC1	57125	broad.mit.edu	37	17	37262146	37262146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37262146C>T	ENST00000315392.4	-	7	983	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N|PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1			23					ATGAAGGCATCCGATAGGCCG	0.587000																								0							SO:0001583	missense			ENST00000315392.4	1	1	hg19	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604905	0.46423	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.23	5.23	0.72850	.	0.114353	0.64402	D	0.000019	D	0.88640	0.6491	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90222	0.4272	10	0.87932	D	0	-21.06	15.5258	0.75905	0.0:1.0:0.0:0.0	.	258	Q8IUK5	PXDC1_HUMAN	N	258;185;185;218;258;185	ENSP00000323927:D258N;ENSP00000441881:D185N;ENSP00000409687:D218N;ENSP00000377851:D258N;ENSP00000393227:D185N	ENSP00000323927:D258N	D	-	1	0	PLXDC1	34515672	1.000000	0.71417	0.420000	0.26596	0.590000	0.36582	7.079000	0.76829	2.440000	0.82611	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	1	152	623	0	141	0	9.999971e-01	0	75	0	141	2		0	0	0	0	0	2	1	1	147	607	0	139	2								-2.869459	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXDC1	57125	broad.mit.edu	37	17	37296038	37296038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37296038G>A	ENST00000315392.4	-	2	335	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000539608.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1			23					TTCCAGCCCCGCACGGTCCCT	0.657000																								0							SO:0001583	missense			ENST00000315392.4	1	1	hg19	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	G	2.372	-0.344085	0.05208	.	.	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.24908	1.83	5.39	2.11	0.27256	.	1.246720	0.05575	N	0.571727	T	0.12518	0.0304	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28202	-1.0051	10	0.36615	T	0.2	0.0837	3.5256	0.07759	0.0912:0.2012:0.5364:0.1712	.	42	Q8IUK5	PXDC1_HUMAN	W	42	ENSP00000323927:R42W	ENSP00000323927:R42W	R	-	1	2	PLXDC1	34549564	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	1.263000	0.33004	0.167000	0.19631	-0.397000	0.06425	CGG		TCGA-IB-7651-01A-11D-2154-08	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	1	0	1	52	277	0	68	0	9.891834e-01	0	40	0	68	2		0	0	0	0	0	2	1	1	51	271	0	67	2								-3.234657	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAC2	342667	broad.mit.edu	37	17	37371375	37371375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37371375C>T	ENST00000333461.5	-	5	1064	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	p.S232N(1)		17					CCATACCAGGCTCCTTGTCGG	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000333461.5	1	1	hg19	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.281530	0.59758	.	.	ENSG00000141750	ENST00000333461	D	0.81579	-1.51	4.83	3.84	0.44239	.	0.464554	0.23409	N	0.048484	T	0.72455	0.3462	N	0.24115	0.695	0.44918	D	0.997938	B	0.32245	0.361	B	0.37943	0.261	T	0.71041	-0.4707	10	0.46703	T	0.11	-10.2716	13.8386	0.63424	0.0:0.8449:0.1551:0.0	.	232	Q6ZMT1	STAC2_HUMAN	N	232	ENSP00000327509:S232N	ENSP00000327509:S232N	S	-	2	0	STAC2	34624901	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	4.916000	0.63362	0.996000	0.38943	0.511000	0.50034	AGC		TCGA-IB-7651-01A-11D-2154-08	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	1	0	1	88	386	0	84	0	4.568770e-01	0	8	0	84	2		0	0	0	0	0	2	1	1	87	378	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED1	5469	broad.mit.edu	37	17	37564749	37564749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37564749C>T	ENST00000300651.6	-	17	3948	c.3725G>A	c.(3724-3726)gGc>gAc	p.G1242D	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1			59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)		TGACTTCATGCCAGAGCTTGA	0.488000										HNSCC(31;0.082)			Pancreas(21;279 768 2492 4877 24026)											0							SO:0001583	missense			ENST00000300651.6	1	1	hg19	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.054042	0.36277	.	.	ENSG00000125686	ENST00000300651	T	0.53423	0.62	5.35	4.38	0.52667	.	.	.	.	.	T	0.24353	0.0590	N	0.08118	0	0.38521	D	0.948728	B	0.27853	0.191	B	0.23275	0.045	T	0.12915	-1.0529	9	0.19147	T	0.46	-1.542	9.8581	0.41098	0.0:0.7876:0.1396:0.0728	.	1242	Q15648	MED1_HUMAN	D	1242	ENSP00000300651:G1242D	ENSP00000300651:G1242D	G	-	2	0	MED1	34818275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	1.620000	0.50308	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	1	0	1	73	297	0	82	1	9.999980e-01	16	64	0	82	2		0	0	0	0	0	2	1	1	71	291	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED1	5469	broad.mit.edu	37	17	37584042	37584042	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37584042A>G	ENST00000394287.3	-	10	856	c.651T>C	c.(649-651)ggT>ggC	p.G217G	MED1_ENST00000300651.6_Splice_Site_p.G217G			O95243	MBD4_HUMAN	mediator complex subunit 1			59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)		TCATTAAATGACCTATAAAAA	0.303000										HNSCC(31;0.082)			Pancreas(21;279 768 2492 4877 24026)											0							SO:0001630	splice_region_variant			ENST00000394287.3	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	1	0	1	20	93	0	30	1	9.911706e-01	10	29	0	30	2		0	0	0	0	0	2	1	9.999971e-01	19	92	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
CDK12	51755	broad.mit.edu	37	17	37618956	37618956	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37618956A>C	ENST00000447079.4	+	1	665	c.632A>C	c.(631-633)aAa>aCa	p.K211T	CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12			70					AAAAGTTACAAAACAGTGGAC	0.507000			Mis, N, F		serous ovarian					TCGA Ovarian(9;0.13)					Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0							SO:0001583	missense			ENST00000447079.4	1	1	hg19	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113683	0.56398	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42513	0.97;0.97	5.07	5.07	0.68467	.	0.000000	0.46442	D	0.000288	T	0.56992	0.2023	L	0.44542	1.39	0.39766	D	0.97209	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.83275	0.994;0.968;0.996	T	0.62282	-0.6887	10	0.72032	D	0.01	-10.8059	14.8276	0.70125	1.0:0.0:0.0:0.0	.	211;211;211	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	211	ENSP00000407720:K211T;ENSP00000398880:K211T	ENSP00000407720:K211T	K	+	2	0	CDK12	34872482	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	7.154000	0.77437	1.907000	0.55213	0.379000	0.24179	AAA		TCGA-IB-7651-01A-11D-2154-08	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	1	0	1	119	411	0	101	1	1	24	67	0	101	2		0	0	0	0	0	2	1	1	118	403	0	100	2								-20.000000	1	1	121412	3	38	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK12	51755	broad.mit.edu	37	17	37627662	37627662	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37627662C>A	ENST00000447079.4	+	2	1610	c.1577C>A	c.(1576-1578)cCt>cAt	p.P526H	CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12			70					AAGGAGACCCCTCCACCTCTT	0.498000			Mis, N, F		serous ovarian					TCGA Ovarian(9;0.13)					Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0							SO:0001583	missense			ENST00000447079.4	1	1	hg19	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672699	0.29693	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.72051	-0.62;-0.59	5.99	-6.48	0.01896	.	0.643554	0.13842	N	0.358957	T	0.47783	0.1464	N	0.19112	0.55	0.31816	N	0.626596	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.003;0.003;0.008	T	0.14364	-1.0475	10	0.62326	D	0.03	6.8656	8.384	0.32488	0.0976:0.3726:0.0:0.5298	.	525;526;526	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	526	ENSP00000407720:P526H;ENSP00000398880:P526H	ENSP00000407720:P526H	P	+	2	0	CDK12	34881188	0.945000	0.32115	0.480000	0.27341	0.718000	0.41266	0.153000	0.16323	-1.116000	0.02969	-0.140000	0.14226	CCT		TCGA-IB-7651-01A-11D-2154-08	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	1	0	1	175	622	0	137	1	9.999999e-01	17	64	0	137	2		0	0	0	0	0	2	1	1	164	593	0	137	2								-3.971489	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB2	2064	broad.mit.edu	37	17	37864607	37864607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37864607G>A	ENST00000269571.5	+	3	418	c.259G>A	c.(259-261)Gct>Act	p.A87T	ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000406381.2_Missense_Mutation_p.A57T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2			247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGTGCTCATCGCTCACAACCA	0.612000		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)					Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	0							SO:0001583	missense			ENST00000269571.5	1	1	hg19	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750857	0.69533	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.21	5.21	0.72293	EGF receptor, L domain (1);	.	.	.	.	D	0.86871	0.6037	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.936	D	0.87494	0.2429	9	0.87932	D	0	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	57;72;87;87	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	T	57;72;87;57;57	ENSP00000385185:A57T;ENSP00000446466:A72T;ENSP00000269571:A87T;ENSP00000443562:A57T;ENSP00000446382:A57T	ENSP00000269571:A87T	A	+	1	0	ERBB2	35118133	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.448000	0.97600	2.873000	0.98535	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1	93	358	0	97	1	1	10	159	0	97	2		0	0	0	0	0	2	1	1	92	349	0	97	2								-3.593749	1	1	121410	1	26	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB2	2064	broad.mit.edu	37	17	37868294	37868294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37868294G>A	ENST00000269571.5	+	8	1174	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000406381.2_Missense_Mutation_p.A309T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2			247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAAGCCCTGTGCCCGAGGTAC	0.637000		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)					Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	0							SO:0001583	missense			ENST00000269571.5	1	1	hg19	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859575	0.51376	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	D;D;T;D;D;D	0.84070	-1.8;-1.8;0.98;-1.8;-1.8;-1.8	5.3	4.3	0.51218	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.76550	0.4003	L	0.29908	0.895	0.42433	D	0.992688	B;B;B;B;B	0.33528	0.019;0.057;0.057;0.024;0.416	B;B;B;B;B	0.38712	0.005;0.015;0.014;0.02;0.28	T	0.78089	-0.2340	9	0.72032	D	0.01	.	11.4994	0.50428	0.0:0.2466:0.7534:0.0	.	63;309;324;339;339	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	T	309;324;63;339;309;309	ENSP00000385185:A309T;ENSP00000446466:A324T;ENSP00000404047:A63T;ENSP00000269571:A339T;ENSP00000443562:A309T;ENSP00000446382:A309T	ENSP00000269571:A339T	A	+	1	0	ERBB2	35121820	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.770000	0.55310	2.766000	0.95052	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	0	0	1	54	542	0	112	1	9.999995e-01	50	160	0	112	2		0	0	0	0	0	2	1	1	54	531	0	110	2								-15.633650	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.820000	1.000000	1.000000	0.980068	0.990000	1	9.500000e-01	1
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37881332G>A	ENST00000269571.5	+	21	2683	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	p.V842I(6)		247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597000		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)					Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	6	Substitution - Missense(6)						SO:0001583	missense			ENST00000269571.5	1	1	hg19	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	ERBB2	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA		TCGA-IB-7651-01A-11D-2154-08	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1	50	211	0	48	1	1	135	82	0	48	2		0	0	0	0	0	2	1	1	49	207	0	47	2								-3.232479	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB2	2064	broad.mit.edu	37	17	37882024	37882024	+	Missense_Mutation	SNP	G	G	T	rs138957632	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37882024G>T	ENST00000269571.5	+	23	2949	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D	ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D|ERBB2_ENST00000406381.2_Missense_Mutation_p.E900D|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2			247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAGCCCGGGAGATCCCTGACC	0.592000		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)					Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	0							SO:0001583	missense			ENST00000269571.5	1	1	hg19	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823520	0.32237	0.0	5.81E-4	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.53	2.44	0.29823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71143	0.3305	N	0.24115	0.695	0.80722	D	1	B;B;B	0.20052	0.041;0.013;0.041	B;B;B	0.24394	0.053;0.005;0.053	T	0.61686	-0.7012	9	0.45353	T	0.12	.	9.0774	0.36531	0.2885:0.0:0.7115:0.0	.	654;915;930	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	D	900;915;654;930;900	ENSP00000385185:E900D;ENSP00000446466:E915D;ENSP00000404047:E654D;ENSP00000269571:E930D;ENSP00000443562:E900D	ENSP00000269571:E930D	E	+	3	2	ERBB2	35135550	0.986000	0.35501	1.000000	0.80357	0.991000	0.79684	0.225000	0.17757	0.291000	0.22468	-0.251000	0.11542	GAG		TCGA-IB-7651-01A-11D-2154-08	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1	62	246	0	68	1	1	195	148	0	68	2		0	0	0	0	0	2	1	1	62	232	0	68	2								-3.105092	1	1	121412	53	49	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB2	2064	broad.mit.edu	37	17	37883966	37883966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37883966G>A	ENST00000269571.5	+	27	3596	c.3437G>A	c.(3436-3438)cGg>cAg	p.R1146Q	ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.R1116Q|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2			247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCAGATGTTCGGCCCCAGCCC	0.622000		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)					Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	0							SO:0001583	missense			ENST00000269571.5	1	1	hg19	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	2.279	-0.365160	0.05103	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75154	-0.91;-0.91;-0.89;-0.91;-0.91	5.06	-1.24	0.09435	.	.	.	.	.	T	0.62380	0.2423	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.06405	0.002;0.002;0.001	T	0.47711	-0.9096	9	0.24483	T	0.36	.	9.9529	0.41649	0.4335:0.0:0.5665:0.0	.	870;1131;1146	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	1116;1131;870;1146;1116	ENSP00000385185:R1116Q;ENSP00000446466:R1131Q;ENSP00000404047:R870Q;ENSP00000269571:R1146Q;ENSP00000443562:R1116Q	ENSP00000269571:R1146Q	R	+	2	0	ERBB2	35137492	0.000000	0.05858	0.068000	0.19968	0.277000	0.26821	0.169000	0.16641	-0.072000	0.12864	0.455000	0.32223	CGG		TCGA-IB-7651-01A-11D-2154-08	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1	53	205	0	46	1	1	36	297	0	46	2		0	0	0	0	0	2	1	1	51	195	0	44	2								-20.000000	1	1	121248	2	35	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRB7	2886	broad.mit.edu	37	17	37899218	37899218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899218G>A	ENST00000309156.4	+	4	631	c.374G>A	c.(373-375)cGc>cAc	p.R125H	GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H|GRB7_ENST00000394204.1_Missense_Mutation_p.R125H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7			18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		GCCACAGCTCGCCACGTGTGT	0.622000																								0							SO:0001583	missense			ENST00000309156.4	1	1	hg19	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813108	0.50527	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	4.77	4.77	0.60923	Ras-association (3);	0.168736	0.51477	D	0.000089	T	0.23171	0.0560	L	0.60845	1.875	0.80722	D	1	B;P	0.36535	0.021;0.557	B;B	0.31337	0.004;0.128	T	0.07102	-1.0790	10	0.59425	D	0.04	-20.5719	17.0724	0.86578	0.0:0.0:1.0:0.0	.	125;125	Q14451-2;Q14451	.;GRB7_HUMAN	H	125;125;125;125;148;125	ENSP00000311752:R125H;ENSP00000310771:R125H;ENSP00000377761:R125H;ENSP00000377759:R125H;ENSP00000403459:R148H;ENSP00000377754:R125H	ENSP00000310771:R125H	R	+	2	0	GRB7	35152744	0.998000	0.40836	0.969000	0.41365	0.046000	0.14306	5.327000	0.65881	2.653000	0.90120	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	0	0	0	15	376	0	62	1	8.970177e-01	9	93	0	62	2		0	0	0	0	0	2	1	9.998573e-01	15	369	0	61	2								-3.205873	1	1	121410	15	42	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.470000	0.270000	1.000000	0.450000	0.528600	0.470000	0	3.600000e-01	6.600000e-01
GRB7	2886	broad.mit.edu	37	17	37899533	37899533	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899533C>T	ENST00000309156.4	+	5	821	c.564C>T	c.(562-564)taC>taT	p.Y188Y	GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000309185.3_Silent_p.Y188Y|GRB7_ENST00000394209.2_Silent_p.Y188Y|GRB7_ENST00000394204.1_Silent_p.Y188Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7			18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		TCGCCAAGTACGAACTGTTCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000309156.4	1	1	hg19	CCDS11345.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	1	0	0	70	301	0	80	1	1	68	79	0	80	2		0	0	0	0	0	2	1	1	70	296	0	80	2								-20.000000	1	1	121412	10	41	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRB7	2886	broad.mit.edu	37	17	37901227	37901227	+	Missense_Mutation	SNP	G	G	A	rs147188188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37901227G>A	ENST00000309156.4	+	9	1258	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	GRB7_ENST00000445327.2_Missense_Mutation_p.R357H|GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000309185.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H|GRB7_ENST00000394204.1_Missense_Mutation_p.R334H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7			18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		GCTGCCTTCCGCCTCTTCAAG	0.617000																								0							SO:0001583	missense			ENST00000309156.4	1	1	hg19	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459949	0.96240	2.27E-4	0.0	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048350	0.85682	D	0.000000	D	0.89061	0.6608	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.959;0.999	D	0.90993	0.4836	10	0.87932	D	0	-32.8545	18.4577	0.90727	0.0:0.0:1.0:0.0	.	334;334	Q14451-2;Q14451	.;GRB7_HUMAN	H	334;334;334;334;357;334	ENSP00000311752:R334H;ENSP00000310771:R334H;ENSP00000377761:R334H;ENSP00000377759:R334H;ENSP00000403459:R357H;ENSP00000377754:R334H	ENSP00000310771:R334H	R	+	2	0	GRB7	35154753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.498000	0.97972	2.681000	0.91329	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	1	0	1	32	134	0	21	1	9.999969e-01	40	49	0	21	2		0	0	0	0	0	2	1	1	32	133	0	21	2								-20.000000	1	1	121406	2	28	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
P2RX1	5023	broad.mit.edu	37	17	3801339	3801339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3801339C>T	ENST00000225538.3	-	11	1372	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1			13					ATTTGAACTTCTTCTGCTTGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000225538.3	1	1	hg19	CCDS11040.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	0	0	0	21	825	0	110	0	4.463283e-02	0	13	0	110	2		0	0	0	0	0	2	1	9.999970e-01	21	811	0	109	2								-2.948974	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.300000	0.180000	1.000000	0.290000	0.379158	0.300000	0	2.400000e-01	4.100000e-01
ZPBP2	124626	broad.mit.edu	37	17	38033007	38033007	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38033007A>G	ENST00000348931.4	+	8	1153	c.962A>G	c.(961-963)tAt>tGt	p.Y321C	ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C|ZPBP2_ENST00000377940.3_Missense_Mutation_p.Y299C	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2			15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		GTCCTTACCTATGGAGCTAAA	0.408000																								0							SO:0001583	missense			ENST00000348931.4	1	1	hg19	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	A	7.367	0.626078	0.14257	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.61627	0.09;0.09	5.96	4.89	0.63831	.	0.000000	0.56097	D	0.000023	T	0.73536	0.3599	M	0.73962	2.25	0.37904	D	0.931149	B;D	0.89917	0.36;1.0	B;D	0.97110	0.181;1.0	T	0.78206	-0.2294	10	0.87932	D	0	-19.5048	10.4054	0.44254	0.9256:0.0:0.0744:0.0	.	299;321	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	C	321;299	ENSP00000335384:Y321C;ENSP00000367174:Y299C	ENSP00000335384:Y321C	Y	+	2	0	ZPBP2	35286533	0.986000	0.35501	0.350000	0.25708	0.502000	0.33828	3.932000	0.56537	1.082000	0.41137	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	1	0	1	154	783	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1	154	765	0	175	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSDMB	55876	broad.mit.edu	37	17	38065249	38065249	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38065249C>T	ENST00000394179.1	-	5	753	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000394175.2_Missense_Mutation_p.R208Q			Q8TAX9	GSDMB_HUMAN	gasdermin B			21					CTGCTTTACTCGATAGCTCAG	0.522000																								0							SO:0001583	missense			ENST00000394179.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.046504|3.046504	0.55110|0.55110	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000420491|ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.|T;T;T;T;T;T	.|0.26518	.|1.73;1.73;1.73;1.73;1.73;1.73	3.13|3.13	1.11|1.11	0.20524|0.20524	.|.	.|0.184561	.|0.25045	.|N	.|0.033565	T|T	0.39784|0.39784	0.1091|0.1091	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|D;D;P;P	.|0.89917	.|1.0;1.0;0.772;0.772	.|D;D;B;B	.|0.91635	.|0.999;0.992;0.121;0.121	T|T	0.08638|0.08638	-1.0712|-1.0712	5|10	.|0.46703	.|T	.|0.11	.|.	5.3822|5.3822	0.16197|0.16197	0.0:0.7316:0.0:0.2684|0.0:0.7316:0.0:0.2684	.|.	.|208;208;208;208	.|B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2	.|.;.;.;.	K|Q	140|208	.|ENSP00000353465:R208Q;ENSP00000377729:R208Q;ENSP00000312584:R208Q;ENSP00000430157:R208Q;ENSP00000415049:R208Q;ENSP00000377733:R208Q	.|ENSP00000312584:R208Q	E|R	-|-	1|2	0|0	GSDMB|GSDMB	35318775|35318775	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.042000|0.042000	0.13812|0.13812	-0.139000|-0.139000	0.10358|0.10358	0.347000|0.347000	0.23924|0.23924	0.609000|0.609000	0.83330|0.83330	GAG|CGA		TCGA-IB-7651-01A-11D-2154-08	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	181	777	0	193	1	1	62	75	0	193	2		0	0	0	0	0	2	1	1	177	754	0	191	2								-3.320721	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD3	5709	broad.mit.edu	37	17	38142955	38142955	+	Missense_Mutation	SNP	G	G	A	rs142347522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38142955G>A	ENST00000264639.4	+	3	713	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3			26	Colorectal(19;0.000442)				AACAGCAAGCGCTACAAAGAG	0.537000													Ovarian(186;531 2051 6385 19668 48409)											0							SO:0001583	missense			ENST00000264639.4	1	1	hg19	CCDS11356.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.19	3.051901	0.55218	4.54E-4	1.16E-4	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.76709	-1.04;-1.04	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.104781	0.64402	D	0.000005	T	0.69886	0.3161	L	0.31752	0.955	0.58432	D	0.999998	B	0.17667	0.023	B	0.08055	0.003	T	0.64433	-0.6409	10	0.41790	T	0.15	-5.143	18.687	0.91568	0.0:0.0:1.0:0.0	.	180	O43242	PSMD3_HUMAN	H	180;167;42	ENSP00000264639:R180H;ENSP00000442508:R42H	ENSP00000264639:R180H	R	+	2	0	PSMD3	35396481	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.417000	0.73337	2.495000	0.84180	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	1	0	1	113	542	0	135	1	1	100	326	0	135	2		0	0	0	0	0	2	1	1	110	536	0	134	2								-20.000000	1	1	121412	16	45	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD3	5709	broad.mit.edu	37	17	38151281	38151281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38151281C>T	ENST00000264639.4	+	7	1230	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PSMD3_ENST00000541736.1_Silent_p.S214S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3			26	Colorectal(19;0.000442)				GCCAGCCCTCCCTCAAGCGCT	0.602000													Ovarian(186;531 2051 6385 19668 48409)											0							SO:0001819	synonymous_variant			ENST00000264639.4	1	1	hg19	CCDS11356.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	0	0	0	26	698	0	141	1	9.999998e-01	48	625	0	141	2		0	0	0	0	0	2	1	9.999999e-01	24	678	0	140	2								-2.998868	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.440000	0.280000	1.000000	0.420000	0.493391	0.440000	0	3.500000e-01	5.700000e-01
MSL1	339287	broad.mit.edu	37	17	38282635	38282635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38282635G>A	ENST00000398532.4	+	2	1283	c.968G>A	c.(967-969)gGg>gAg	p.G323E	MSL1_ENST00000577454.1_Missense_Mutation_p.G323E|MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)			7					TTCTCATGTGGGCGGAGTGGA	0.478000																								0							SO:0001583	missense			ENST00000398532.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.07	3.018305	0.54576	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.89	5.89	0.94794	.	0.136028	0.64402	D	0.000002	T	0.57961	0.2089	N	0.08118	0	0.50313	D	0.999862	D	0.71674	0.998	D	0.64321	0.924	T	0.60786	-0.7194	9	0.32370	T	0.25	-13.4448	19.8722	0.96854	0.0:0.0:1.0:0.0	.	323	Q68DK7	MSL1_HUMAN	E	60;323	.	ENSP00000341409:G60E	G	+	2	0	MSL1	35536161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.496000	0.73670	2.793000	0.96121	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	1	0	1	23	140	0	51	1	1	33	179	0	51	2		0	0	0	0	0	2	1	9.999995e-01	22	137	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999459	0.990000	1	9.900000e-01	1
MSL1	339287	broad.mit.edu	37	17	38289356	38289356	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38289356G>T	ENST00000398532.4	+	6	1865	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)			7					GAGAAGAGAAGGAAAAGGTGA	0.478000																								0							SO:0001583	missense			ENST00000398532.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.69	3.193403	0.58017	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.62639	0.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.63843	1.955	0.80722	D	1	.	.	.	.	.	.	T	0.74765	-0.3554	8	0.54805	T	0.06	-1.7679	18.5758	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	M	254;517	ENSP00000381543:R517M	ENSP00000341409:R254M	R	+	2	0	MSL1	35542882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.458000	0.97634	2.683000	0.91414	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	1	0	1	12	36	0	15	1	9.999999e-01	32	101	0	15	2		0	0	0	0	0	2	1	9.995251e-01	12	36	0	15	2								-19.999970	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999826	0.990000	1	9.900000e-01	1
WIPF2	147179	broad.mit.edu	37	17	38412732	38412732	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38412732G>A	ENST00000323571.4	+	2	261	c.21G>A	c.(19-21)ccG>ccA	p.P7P	WIPF2_ENST00000583130.1_Silent_p.P7P|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000394103.3_Silent_p.P7P|WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000585043.1_Silent_p.P7P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2			30					CTCCTCCCCCGCCACCCCCAC	0.488000										HNSCC(43;0.11)														0							SO:0001819	synonymous_variant			ENST00000323571.4	1	0	hg19	CCDS11364.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	1	0	1	70	340	0	86	1	9.999998e-01	34	76	0	86	2		0	0	0	0	0	2	1	1	68	332	0	83	2								-2.777445	1	1	121412	2	34	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WIPF2	147179	broad.mit.edu	37	17	38421339	38421339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38421339C>T	ENST00000323571.4	+	5	1151	c.911C>T	c.(910-912)cCa>cTa	p.P304L	WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2			30					TCGGCCTCCCCATCTTTACTG	0.582000										HNSCC(43;0.11)														0							SO:0001583	missense			ENST00000323571.4	1	1	hg19	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190324	0.21954	.	.	ENSG00000171475	ENST00000323571	T	0.33438	1.41	5.82	5.82	0.92795	.	0.125722	0.64402	D	0.000020	T	0.17152	0.0412	N	0.11255	0.115	0.80722	D	1	B	0.17038	0.02	B	0.15052	0.012	T	0.12400	-1.0549	10	0.20046	T	0.44	-7.7117	13.026	0.58814	0.0:0.9261:0.0:0.0739	.	304	Q8TF74	WIPF2_HUMAN	L	304	ENSP00000320924:P304L	ENSP00000320924:P304L	P	+	2	0	WIPF2	35674865	0.776000	0.28616	0.995000	0.50966	0.892000	0.51952	4.679000	0.61649	2.767000	0.95098	0.555000	0.69702	CCA		TCGA-IB-7651-01A-11D-2154-08	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	0	0	1	118	584	0	120	1	9.999954e-01	27	60	0	120	2		0	0	0	0	0	2	1	1	116	555	0	120	2								-2.673062	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WIPF2	147179	broad.mit.edu	37	17	38430111	38430111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38430111G>A	ENST00000323571.4	+	6	1280	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	p.R347Q(1)		30					CCACCATACCGAATGCATGGG	0.612000										HNSCC(43;0.11)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000323571.4	1	1	hg19	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627069	0.96671	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.48836	1.27;0.8;0.8	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.69078	0.962;0.997	B;P	0.52598	0.194;0.703	T	0.52859	-0.8519	10	0.30854	T	0.27	-6.6071	18.9492	0.92635	0.0:0.0:1.0:0.0	.	89;347	A8MWR2;Q8TF74	.;WIPF2_HUMAN	Q	347;89;89	ENSP00000320924:R347Q;ENSP00000377663:R89Q;ENSP00000439175:R89Q	ENSP00000320924:R347Q	R	+	2	0	WIPF2	35683637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.554000	0.67294	2.646000	0.89796	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	1	0	1	24	389	0	66	1	9.252090e-01	10	64	0	66	2		0	0	0	0	0	2	1	9.999993e-01	24	363	0	61	2								-3.221727	1	1	121408	2	30	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.710000	0.460000	1.000000	0.690000	0.734738	0.710000	0	5.700000e-01	9.200000e-01
CDC6	990	broad.mit.edu	37	17	38445693	38445693	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38445693G>T	ENST00000209728.4	+	2	492	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6			21					CCCGATCCCAGGCACAGGCTA	0.403000																								0							SO:0001583	missense			ENST00000209728.4	1	1	hg19	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256689	0.80246	.	.	ENSG00000094804	ENST00000209728	T	0.59083	0.29	4.72	2.68	0.31781	.	0.129524	0.53938	D	0.000050	T	0.67933	0.2946	M	0.71581	2.175	0.39861	D	0.973386	D	0.67145	0.996	P	0.61328	0.887	T	0.69285	-0.5185	10	0.39692	T	0.17	-22.1046	10.5158	0.44889	0.1665:0.0:0.8335:0.0	.	7	Q99741	CDC6_HUMAN	H	7	ENSP00000209728:Q7H	ENSP00000209728:Q7H	Q	+	3	2	CDC6	35699219	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	3.099000	0.50267	1.212000	0.43366	0.557000	0.71058	CAG		TCGA-IB-7651-01A-11D-2154-08	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1	1	0	0	30	312	0	61	1	6.809221e-01	2	24	0	61	2		0	0	0	0	0	2	1	1	28	306	0	61	2								-3.318794	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.730000	1.000000	1.000000	0.958468	0.990000	1	8.800000e-01	1
ATP2A3	489	broad.mit.edu	37	17	3844772	3844772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3844772C>T	ENST00000352011.3	-	13	1776	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000309890.7_Silent_p.E574E|ATP2A3_ENST00000359983.3_Silent_p.E574E|ATP2A3_ENST00000397035.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous			36					GCTCCATGTCCTCCTTCCTTG	0.642000													GBM(32;29 774 15719 37967)											0							SO:0001819	synonymous_variant			ENST00000352011.3	1	1	hg19	CCDS11041.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	1	0	1	123	601	0	131	1	1	28	146	0	131	2		0	0	0	0	0	2	1	1	123	595	0	130	2								-3.328172	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2A3	489	broad.mit.edu	37	17	3854899	3854899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3854899G>A	ENST00000352011.3	-	4	354	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000309890.7_Silent_p.A100A|ATP2A3_ENST00000359983.3_Silent_p.A100A|ATP2A3_ENST00000397035.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous			36					CAATGGCGTTGGCCACGAGGA	0.687000													GBM(32;29 774 15719 37967)											0							SO:0001819	synonymous_variant			ENST00000352011.3	0	1	hg19	CCDS11041.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	1	0	0	19	81	0	9	1	9.999998e-01	25	109	0	9	2		0	0	0	0	0	2	1	9.999939e-01	19	78	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999941	0.990000	1	9.900000e-01	1
IGFBP4	3487	broad.mit.edu	37	17	38610230	38610230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38610230C>T	ENST00000269593.4	+	3	833	c.558C>T	c.(556-558)gcC>gcT	p.A186A	IGFBP4_ENST00000542955.1_Silent_p.A86A	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4			5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)		AGCGGCTGGCCGCTTCACAGA	0.642000													GBM(160;940 3581 26177)											0							SO:0001819	synonymous_variant			ENST00000269593.4	1	1	hg19	CCDS11367.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	1	0	1	93	517	0	90	1	1	8	381	0	90	2		0	0	0	0	0	2	1	1	91	509	0	84	2								-3.018374	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCR7	1236	broad.mit.edu	37	17	38711511	38711511	+	Missense_Mutation	SNP	G	G	A	rs141181444	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38711511G>A	ENST00000246657.2	-	3	682	c.620C>T	c.(619-621)gCg>gTg	p.A207V	CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7			8		Breast(137;0.000496)			GCATCGCATCGCTTGCTCACT	0.572000																								0							SO:0001583	missense			ENST00000246657.2	1	1	hg19	CCDS11369.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.122	-0.655134	0.03480	.	.	ENSG00000126353	ENST00000246657	T	0.36157	1.27	4.45	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	2.531820	0.01360	N	0.012206	T	0.13970	0.0338	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37641	-0.9697	10	0.02654	T	1	.	7.2012	0.25881	0.1594:0.0:0.6936:0.147	.	207	P32248	CCR7_HUMAN	V	207	ENSP00000246657:A207V	ENSP00000246657:A207V	A	-	2	0	CCR7	35965037	0.006000	0.16342	0.001000	0.08648	0.204000	0.24138	1.560000	0.36331	0.820000	0.34516	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1	1	0	1	30	144	0	40	0	6.427279e-01	0	12	0	40	2		0	0	0	0	0	2	1	1	30	140	0	40	2								-17.972530	1	1	121412	1	28	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
KRT25	147183	broad.mit.edu	37	17	38910676	38910676	+	Silent	SNP	G	G	A	rs146092638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38910676G>A	ENST00000312150.4	-	2	534	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181534.3	NP_853512.1			keratin 25			16		Breast(137;0.00526)			TGGCATTATCGATCTGCAGAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000312150.4	1	1	hg19	CCDS11373.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	1	0	1	81	334	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	80	322	0	86	2								-20.000000	1	1	121412	28	49	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT27	342574	broad.mit.edu	37	17	38933853	38933853	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38933853C>A	ENST00000301656.3	-	6	1144	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27			21		Breast(137;0.000812)			CATACTCGAGCTTCTGGCCCT	0.557000																								0							SO:0001583	missense			ENST00000301656.3	1	1	hg19	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	1.307	-0.603277	0.03744	.	.	ENSG00000171446	ENST00000301656	D	0.88046	-2.33	5.56	-6.61	0.01818	Filament (1);	0.000000	0.64402	D	0.000002	T	0.62600	0.2441	N	0.03000	-0.44	0.09310	N	0.999994	B	0.22080	0.064	B	0.26614	0.071	T	0.58951	-0.7545	10	0.02654	T	1	.	13.8548	0.63519	0.0:0.615:0.136:0.2491	.	368	Q7Z3Y8	K1C27_HUMAN	N	368	ENSP00000301656:K368N	ENSP00000301656:K368N	K	-	3	2	KRT27	36187379	0.000000	0.05858	0.846000	0.33378	0.839000	0.47603	-2.826000	0.00746	-1.254000	0.02485	-0.145000	0.13849	AAG		TCGA-IB-7651-01A-11D-2154-08	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	1	0	0	101	1030	0	217	0	0	0	1	0	217	2		0	0	0	0	0	2	1	1	101	1012	0	216	2								-19.999980	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.870000	1.000000	1.000000	0.986410	0.990000	1	9.600000e-01	1
KRT28	162605	broad.mit.edu	37	17	38949454	38949454	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38949454G>A	ENST00000306658.7	-	7	1270	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_181535.3	NP_853513.2			keratin 28			30		Breast(137;0.000301)			CTTTGATTTGGAGCATGAACT	0.284000													Melanoma(19;789 869 15380 26882 39836)											0							SO:0001583	missense			ENST00000306658.7	0	1	hg19	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929205	0.34096	.	.	ENSG00000173908	ENST00000306658	D	0.83673	-1.75	5.35	5.35	0.76521	.	0.222774	0.32231	N	0.006397	T	0.66208	0.2766	N	0.08118	0	0.36858	D	0.888237	B	0.06786	0.001	B	0.09377	0.004	T	0.64123	-0.6481	10	0.12103	T	0.63	.	14.4247	0.67207	0.0:0.0:1.0:0.0	.	402	Q7Z3Y7	K1C28_HUMAN	F	402	ENSP00000305263:S402F	ENSP00000305263:S402F	S	-	2	0	KRT28	36202980	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	3.153000	0.50685	2.777000	0.95525	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	1	0	1	10	51	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.972531e-01	10	49	0	12	2								-8.802611	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.970000	1.000000	1.000000	0.996601	0.990000	1	9.900000e-01	1
KRT12	3859	broad.mit.edu	37	17	39019556	39019556	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39019556C>T	ENST00000251643.4	-	6	1158	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12			15		Breast(137;0.000301)		Griseofulvin(DB00400)	GCGCAGTAATCGCCCTCGGCT	0.607000																								0							SO:0001583	missense			ENST00000251643.4	1	1	hg19	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805382	0.16467	.	.	ENSG00000187242	ENST00000251643	D	0.88509	-2.39	5.05	4.06	0.47325	Filament (1);	0.524332	0.17399	N	0.175640	T	0.70745	0.3259	N	0.02412	-0.56	0.09310	N	1	P	0.36249	0.545	B	0.24701	0.055	T	0.60203	-0.7309	10	0.21014	T	0.42	.	14.833	0.70162	0.0:0.5953:0.4047:0.0	.	379	Q99456	K1C12_HUMAN	N	379	ENSP00000251643:D379N	ENSP00000251643:D379N	D	-	1	0	KRT12	36273082	0.006000	0.16342	0.348000	0.25681	0.961000	0.63080	0.930000	0.28858	1.328000	0.45358	0.491000	0.48974	GAT		TCGA-IB-7651-01A-11D-2154-08	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	1	0	1	20	131	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.999961e-01	19	128	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.998203	0.990000	1	9.900000e-01	1
KRT12	3859	broad.mit.edu	37	17	39022953	39022953	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39022953T>A	ENST00000251643.4	-	1	509	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12			15		Breast(137;0.000301)		Griseofulvin(DB00400)	TTCCTCGTGTTTCATACCATT	0.403000																								0							SO:0001583	missense			ENST00000251643.4	1	1	hg19	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931852	0.52866	.	.	ENSG00000187242	ENST00000251643	D	0.89746	-2.56	5.91	4.83	0.62350	Filament (1);	0.000000	0.52532	D	0.000069	D	0.82815	0.5119	L	0.38175	1.15	0.37705	D	0.924361	P	0.36974	0.576	B	0.37239	0.244	T	0.82236	-0.0557	10	0.45353	T	0.12	.	8.9766	0.35939	0.0:0.2028:0.0:0.7972	.	162	Q99456	K1C12_HUMAN	D	162	ENSP00000251643:E162D	ENSP00000251643:E162D	E	-	3	2	KRT12	36276479	0.024000	0.19004	0.764000	0.31436	0.882000	0.50991	0.610000	0.24253	1.054000	0.40438	-0.274000	0.10170	GAA		TCGA-IB-7651-01A-11D-2154-08	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	1	0	1	151	632	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1	149	618	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT20	54474	broad.mit.edu	37	17	39038846	39038846	+	Missense_Mutation	SNP	C	C	T	rs139752425	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39038846C>T	ENST00000167588.3	-	2	492	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20			14		Breast(137;0.000301)|Ovarian(249;0.15)			TCCTCAGCAGCCAGTTTAGCA	0.378000																								0							SO:0001583	missense			ENST00000167588.3	1	1	hg19	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812948	0.70912	.	.	ENSG00000171431	ENST00000167588	D	0.89270	-2.49	5.33	2.25	0.28309	Filament (1);	0.101974	0.42682	D	0.000662	D	0.87374	0.6161	L	0.59912	1.85	0.38839	D	0.956026	P	0.34934	0.476	B	0.42138	0.377	D	0.86327	0.1696	10	0.42905	T	0.14	.	10.4064	0.44260	0.0:0.7883:0.0:0.2117	.	151	P35900	K1C20_HUMAN	T	151	ENSP00000167588:A151T	ENSP00000167588:A151T	A	-	1	0	KRT20	36292372	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	3.484000	0.53201	1.245000	0.43885	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2	1	0	1	82	357	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	80	356	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT39	390792	broad.mit.edu	37	17	39122912	39122912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39122912C>T	ENST00000355612.2	-	1	232	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39			17		Breast(137;0.00043)|Ovarian(249;0.15)			GGGCTTGCGACAAAAGCGAGG	0.527000																								0							SO:0001583	missense			ENST00000355612.2	1	1	hg19	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	8.048	0.765290	0.15914	.	.	ENSG00000196859	ENST00000355612	D	0.83755	-1.76	5.75	-2.35	0.06684	.	0.469201	0.18379	N	0.143013	T	0.56761	0.2007	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.44251	-0.9340	10	0.41790	T	0.15	.	1.8678	0.03202	0.1305:0.3436:0.1291:0.3967	.	66	Q6A163	K1C39_HUMAN	Y	66	ENSP00000347823:C66Y	ENSP00000347823:C66Y	C	-	2	0	KRT39	36376438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.579000	0.23788	-0.196000	0.10366	-0.142000	0.14014	TGT		TCGA-IB-7651-01A-11D-2154-08	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	1	0	0	76	947	0	172		0	0	0	0	172	2		0	0	0	0	0	2	1	1	74	933	0	171	2								-15.246080	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.890000	0.700000	1.000000	1.000000	0.893266	0.890000	1	7.900000e-01	1
ZZEF1	23140	broad.mit.edu	37	17	3912991	3912991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3912991G>A	ENST00000381638.2	-	53	8764	c.8640C>T	c.(8638-8640)taC>taT	p.Y2880Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1			84					CAAACAGGCCGTACTCCATGT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000381638.2	1	1	hg19	CCDS11043.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	1	0	1	48	174	0	40	1	9.999954e-01	18	53	0	40	2		0	0	0	0	0	2	1	1	47	172	0	37	2								-20.000000	1	1	121410	3	31	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT40	125115	broad.mit.edu	37	17	39137307	39137307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39137307G>A	ENST00000398486.2	-	6	944	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	KRT40_ENST00000377755.4_Missense_Mutation_p.R262C	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40			9		Breast(137;0.00043)			CACTGACAGCGCATCTCATCC	0.527000																								0							SO:0001583	missense			ENST00000398486.2	1	0	hg19	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297020	0.81025	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.93426	-3.22;-3.22	5.4	4.37	0.52481	Filament (1);	0.000000	0.33092	N	0.005282	D	0.98055	0.9359	H	0.99211	4.47	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	10	0.87932	D	0	.	12.4322	0.55581	0.0:0.0:0.7146:0.2854	.	262	Q6A162	K1C40_HUMAN	C	262	ENSP00000366984:R262C;ENSP00000381500:R262C	ENSP00000366984:R262C	R	-	1	0	KRT40	36390833	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.085000	0.30840	2.688000	0.91661	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	0	0	1	173	753	1	164		0	0	0	1	164	2		0	0	0	0	0	2	1	1	173	745	1	164	19								-20.000000	1	1	121026	4	42	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZZEF1	23140	broad.mit.edu	37	17	3916785	3916785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3916785G>A	ENST00000381638.2	-	52	8661	c.8537C>T	c.(8536-8538)gCc>gTc	p.A2846V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1			84					TAAGTGGATGGCTTTTAATCG	0.552000																								0							SO:0001583	missense			ENST00000381638.2	1	1	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.832956	0.97003	.	.	ENSG00000074755	ENST00000381638	T	0.30182	1.54	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.42498	-0.9448	10	0.87932	D	0	-15.2664	20.3214	0.98679	0.0:0.0:1.0:0.0	.	2846	O43149	ZZEF1_HUMAN	V	2846	ENSP00000371051:A2846V	ENSP00000371051:A2846V	A	-	2	0	ZZEF1	3863534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.804000	0.96469	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	1	0	1	66	253	0	62	1	9.999020e-01	15	40	0	62	2		0	0	0	0	0	2	1	1	65	252	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRTAP4-5	85289	broad.mit.edu	37	17	39305727	39305727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305727G>A	ENST00000343246.4	-	1	327	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5			6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)		acagcagctggggcagcagca	0.662000																								0							SO:0001583	missense			ENST00000343246.4	1	1	hg19	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.941052	0.53079	.	.	ENSG00000198271	ENST00000343246	T	0.02216	4.39	4.08	4.08	0.47627	.	0.729752	0.11113	U	0.598308	T	0.13500	0.0327	M	0.92367	3.3	0.22034	N	0.999404	P	0.48089	0.905	P	0.52823	0.71	T	0.04664	-1.0935	10	0.87932	D	0	.	14.1354	0.65284	0.0:0.0:1.0:0.0	.	103	Q9BYR2	KRA45_HUMAN	L	98	ENSP00000340546:P98L	ENSP00000340546:P98L	P	-	2	0	KRTAP4-5	36559253	0.994000	0.37717	0.084000	0.20598	0.608000	0.37181	2.373000	0.44266	2.243000	0.73865	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1	0	0	0	9	291	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	9.921114e-01	9	269	0	62	2								-3.552823	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.380000	0.180000	1.000000	0.350000	0.446708	0.380000	0	2.700000e-01	5.800000e-01
KRTAP4-5	85289	broad.mit.edu	37	17	39305864	39305864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305864C>A	ENST00000343246.4	-	1	190	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5			6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)		agcagGTGGGCTGGTAGCACA	0.672000																								0							SO:0001583	missense			ENST00000343246.4	1	1	hg19	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.649	0.682408	0.14907	.	.	ENSG00000198271	ENST00000343246	T	0.00594	6.33	4.12	2.03	0.26663	.	0.609345	0.11953	U	0.513531	T	0.02047	0.0064	M	0.77406	2.37	0.09310	N	0.999999	D	0.65815	0.995	D	0.68353	0.957	T	0.45145	-0.9281	10	0.52906	T	0.07	.	6.334	0.21287	0.1868:0.7083:0.0:0.1048	.	52	Q9BYR2	KRA45_HUMAN	H	52	ENSP00000340546:Q52H	ENSP00000340546:Q52H	Q	-	3	2	KRTAP4-5	36559390	0.000000	0.05858	0.684000	0.30055	0.120000	0.20174	-0.593000	0.05740	0.987000	0.38709	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1	1	0	1	62	269	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	57	244	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRTAP17-1	83902	broad.mit.edu	37	17	39471738	39471738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39471738C>T	ENST00000334202.3	-	1	209	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1			2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)		cacagcaagacgatccgcagc	0.706000																								0							SO:0001819	synonymous_variant			ENST00000334202.3	0	1	hg19	CCDS11387.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1	1	0	1	16	75	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.999440e-01	16	71	0	10	2								-20.000000	1	1	120554	5	35	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999673	0.990000	1	9.900000e-01	1
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A			21		Breast(137;0.000496)			ACCTGCGTGGCGAACCATTGC	0.622000																								0							SO:0001583	missense			ENST00000007735.3	0	1	hg19	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	1.714	-0.498453	0.04291	.	.	ENSG00000006059	ENST00000007735	D	0.88741	-2.42	4.41	-0.427	0.12310	Filament (1);	0.385342	0.25264	N	0.031925	T	0.65037	0.2653	N	0.01505	-0.83	0.28797	N	0.898975	B	0.06786	0.001	B	0.06405	0.002	T	0.57423	-0.7814	10	0.17369	T	0.5	.	5.9195	0.19073	0.0:0.3508:0.1481:0.5011	.	248	O76009	KT33A_HUMAN	T	248	ENSP00000007735:A248T	ENSP00000007735:A248T	A	-	1	0	KRT33A	36756847	0.000000	0.05858	0.695000	0.30226	0.567000	0.35839	-1.415000	0.02469	-0.209000	0.10156	-0.471000	0.05019	GCC		TCGA-IB-7651-01A-11D-2154-08	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	1	0	0	29	287	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	22	257	0	78	2								-20.000000	1	1	121408	10	39	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.760000	1.000000	1.000000	0.970141	0.990000	1	9.200000e-01	1
KRT31	3881	broad.mit.edu	37	17	39551317	39551317	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39551317C>T	ENST00000251645.2	-	6	932	c.880G>A	c.(880-882)Gac>Aac	p.D294N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31			31		Breast(137;0.000496)			TCCAGAGAGTCTCGCTGTGGT	0.547000																								0							SO:0001583	missense			ENST00000251645.2	1	1	hg19	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	9.320	1.057790	0.19907	.	.	ENSG00000094796	ENST00000251645	D	0.89123	-2.47	5.62	-0.748	0.11087	Filament (1);	0.271361	0.32671	N	0.005792	T	0.77452	0.4132	N	0.25144	0.715	0.21355	N	0.999718	B	0.02656	0.0	B	0.04013	0.001	T	0.62172	-0.6910	10	0.24483	T	0.36	.	9.9863	0.41843	0.0:0.3794:0.0:0.6206	.	294	Q15323	K1H1_HUMAN	N	294	ENSP00000251645:D294N	ENSP00000251645:D294N	D	-	1	0	KRT31	36804843	0.000000	0.05858	0.865000	0.33974	0.439000	0.31926	-0.763000	0.04740	0.100000	0.17581	-0.355000	0.07637	GAC		TCGA-IB-7651-01A-11D-2154-08	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	1	0	1	52	214	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	52	207	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT38	8687	broad.mit.edu	37	17	39593734	39593734	+	Missense_Mutation	SNP	C	C	T	rs140093590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39593734C>T	ENST00000246646.3	-	7	1300	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38			29		Breast(137;0.000496)			ACAGCTTGGGCGAGGAGCACA	0.627000																								0							SO:0001583	missense			ENST00000246646.3	1	0	hg19	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.436051	0.25813	2.27E-4	2.33E-4	ENSG00000171360	ENST00000246646	D	0.81996	-1.56	2.26	2.26	0.28386	.	0.524430	0.16004	N	0.234168	T	0.65333	0.2681	N	0.08118	0	0.09310	N	1	P	0.39551	0.678	B	0.39258	0.295	T	0.58607	-0.7607	10	0.45353	T	0.12	.	8.0817	0.30748	0.0:1.0:0.0:0.0	.	434	O76015	KRT38_HUMAN	H	434	ENSP00000246646:R434H	ENSP00000246646:R434H	R	-	2	0	KRT38	36847260	0.000000	0.05858	0.137000	0.22149	0.008000	0.06430	-0.087000	0.11215	1.606000	0.50161	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	1	0	1	17	67	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999762e-01	17	64	0	11	2								-20.000000	1	0	121388	22	41	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
KRT38	8687	broad.mit.edu	37	17	39595014	39595014	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39595014G>A	ENST00000246646.3	-	4	828	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38			29		Breast(137;0.000496)			TACTGAGCCCGCATCTCCCCC	0.582000																								0							SO:0001583	missense			ENST00000246646.3	1	1	hg19	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946566	0.34377	.	.	ENSG00000171360	ENST00000246646	D	0.93488	-3.23	4.27	-4.06	0.03986	Filament (1);	0.000000	0.44902	D	0.000401	D	0.92028	0.7474	M	0.92077	3.27	0.37369	D	0.911553	P	0.38767	0.646	B	0.35510	0.204	D	0.87499	0.2432	10	0.87932	D	0	.	8.7404	0.34554	0.1057:0.0:0.2405:0.6538	.	277	O76015	KRT38_HUMAN	W	277	ENSP00000246646:R277W	ENSP00000246646:R277W	R	-	1	2	KRT38	36848540	0.000000	0.05858	0.927000	0.36925	0.624000	0.37722	-1.242000	0.02908	-0.355000	0.08199	-0.410000	0.06199	CGG		TCGA-IB-7651-01A-11D-2154-08	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	0	0	1	120	507	1	189		0	0	0	1	189	2		0	0	0	0	0	2	1	1	119	492	1	185	13								-3.302645	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT32	3882	broad.mit.edu	37	17	39620565	39620565	+	Missense_Mutation	SNP	C	C	T	rs72830046	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39620565C>T	ENST00000225899.3	-	4	942	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32			21		Breast(137;0.000812)			CACGTCCCTGCGGTTGGCCTC	0.622000																								0							SO:0001583	missense			ENST00000225899.3	1	0	hg19	CCDS11393.1	365	0.1671245421245421	24	0.04878048780487805	85	0.23480662983425415	59	0.10314685314685315	197	0.2598944591029024	C	16.42	3.117464	0.56505	0.081026	0.303488	ENSG00000108759	ENST00000225899	D	0.90004	-2.6	5.22	-2.66	0.06077	Filament (1);	0.678601	0.12184	N	0.491809	T	0.00039	0.0001	M	0.84156	2.68	0.48185	P	3.9800000000000946E-4	B	0.28258	0.205	B	0.34301	0.179	T	0.35699	-0.9778	9	0.56958	D	0.05	.	4.826	0.13416	0.2652:0.4725:0.0:0.2623	.	280	Q14532	K1H2_HUMAN	H	280	ENSP00000225899:R280H	ENSP00000225899:R280H	R	-	2	0	KRT32	36874091	0.000000	0.05858	0.896000	0.35187	0.991000	0.79684	-0.526000	0.06207	-0.710000	0.05001	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	0	0	1	57	227	1	73	0	0	0	1	1	73	2		0	0	0	0	0	2	1	1	57	221	1	73	14								-0.602595	0	1	121396	30767	76	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZZEF1	23140	broad.mit.edu	37	17	3966072	3966072	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3966072G>T	ENST00000381638.2	-	30	4982	c.4858C>A	c.(4858-4860)Ctg>Atg	p.L1620M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1			84					TGACAGGTCAGAAGTTCCAAC	0.428000																								0							SO:0001583	missense			ENST00000381638.2	1	1	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738855	0.69304	.	.	ENSG00000074755	ENST00000381638	T	0.49139	0.79	5.66	3.68	0.42216	.	0.101413	0.48767	D	0.000168	T	0.63873	0.2548	M	0.64997	1.995	0.47245	D	0.99936	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65537	-0.6144	10	0.87932	D	0	-8.7289	11.9053	0.52708	0.1393:0.0:0.8607:0.0	.	1620;1620	O43149-2;O43149	.;ZZEF1_HUMAN	M	1620	ENSP00000371051:L1620M	ENSP00000371051:L1620M	L	-	1	2	ZZEF1	3912821	1.000000	0.71417	0.525000	0.27900	0.979000	0.70002	5.109000	0.64615	0.759000	0.33084	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	1	0	1	19	72	0	13	1	9.970794e-01	9	31	0	13	2		0	0	0	0	0	2	1	9.999959e-01	19	72	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
KRT15	3866	broad.mit.edu	37	17	39671904	39671904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39671904C>T	ENST00000254043.3	-	6	4652	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	KRT15_ENST00000393981.3_Missense_Mutation_p.R191H|KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393976.2_Missense_Mutation_p.R356H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15			16		Breast(137;0.000286)			CGTGGCATAGCGGCACTCTGT	0.597000																								0							SO:0001583	missense			ENST00000254043.3	1	1	hg19	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624215	0.87560	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	4.74	4.74	0.60224	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95277	0.8468	M	0.85945	2.785	0.53005	D	0.999963	D;D;D	0.89917	1.0;0.982;0.982	D;P;P	0.97110	1.0;0.749;0.749	D	0.95576	0.8642	10	0.72032	D	0.01	.	13.3192	0.60424	0.0:0.9218:0.0:0.0782	.	191;356;356	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	H	356;191;356;191;191	ENSP00000254043:R356H;ENSP00000377544:R191H;ENSP00000377546:R356H;ENSP00000377550:R191H;ENSP00000409282:R191H	ENSP00000254043:R356H	R	-	2	0	KRT15	36925430	0.636000	0.27207	1.000000	0.80357	0.966000	0.64601	3.180000	0.50895	2.447000	0.82792	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	1	0	1	71	315	0	84	1	9.999996e-01	65	33	0	84	2		0	0	0	0	0	2	1	1	71	310	0	83	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT15	3866	broad.mit.edu	37	17	39674821	39674821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39674821C>A	ENST00000254043.3	-	1	3844	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G87W	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15			16		Breast(137;0.000286)			ccaaaacccccaccaacgccc	0.577000																								0							SO:0001583	missense			ENST00000254043.3	1	0	hg19	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	7.354	0.623418	0.14193	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.86562	-2.14;-2.14	4.27	4.27	0.50696	.	0.000000	0.40640	N	0.001046	D	0.91106	0.7200	L	0.60067	1.865	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.90334	0.4354	10	0.38643	T	0.18	.	15.9817	0.80114	0.0:1.0:0.0:0.0	.	87	P19012	K1C15_HUMAN	W	87	ENSP00000254043:G87W;ENSP00000377546:G87W	ENSP00000254043:G87W	G	-	1	0	KRT15	36928347	0.007000	0.16637	0.669000	0.29828	0.037000	0.13140	0.834000	0.27518	2.393000	0.81446	0.511000	0.50034	GGG		TCGA-IB-7651-01A-11D-2154-08	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	1	0	1	158	555	0	118	0	4.955471e-02	1	1	0	118	2		0	0	0	0	0	2	1	1	147	514	0	114	2								-3.760614	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT15	3866	broad.mit.edu	37	17	39675024	39675024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39675024C>T	ENST00000254043.3	-	1	3641	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.R19Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15			16		Breast(137;0.000286)			GGAACCCCCTCGGGTTGAGCC	0.582000																								0							SO:0001583	missense			ENST00000254043.3	1	1	hg19	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	6.833	0.522964	0.13066	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.86366	-2.11;-2.11	4.79	4.79	0.61399	.	0.216324	0.23268	N	0.050055	T	0.66499	0.2795	N	0.08118	0	0.22468	N	0.999073	P	0.45428	0.858	B	0.29176	0.099	T	0.60525	-0.7246	10	0.17369	T	0.5	.	10.7105	0.45980	0.2441:0.7559:0.0:0.0	.	19	P19012	K1C15_HUMAN	Q	19	ENSP00000254043:R19Q;ENSP00000377546:R19Q	ENSP00000254043:R19Q	R	-	2	0	KRT15	36928550	0.000000	0.05858	0.061000	0.19648	0.076000	0.17211	-0.055000	0.11807	2.508000	0.84585	0.511000	0.50034	CGA		TCGA-IB-7651-01A-11D-2154-08	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	0	0	0	17	699	0	137		0	0	0	0	137	2		0	0	0	0	0	2	1	9.999531e-01	16	676	0	132	2								-2.640257	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.290000	0.170000	1.000000	0.280000	0.364075	0.290000	0	2.200000e-01	4.000000e-01
ZZEF1	23140	broad.mit.edu	37	17	3968016	3968016	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968016G>T	ENST00000381638.2	-	29	4481	c.4357C>A	c.(4357-4359)Ctc>Atc	p.L1453I		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1			84					AGTGGCTGGAGATGACTGGTT	0.493000																								0							SO:0001583	missense			ENST00000381638.2	0	1	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021966	0.35701	.	.	ENSG00000074755	ENST00000381638	T	0.21361	2.01	5.53	5.53	0.82687	.	0.607547	0.16222	N	0.223984	T	0.24236	0.0587	L	0.47716	1.5	0.43588	D	0.99593	B;P	0.42827	0.4;0.791	B;B	0.38378	0.11;0.272	T	0.03443	-1.1036	10	0.48119	T	0.1	-2.2679	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1453;1453	O43149-2;O43149	.;ZZEF1_HUMAN	I	1453	ENSP00000371051:L1453I	ENSP00000371051:L1453I	L	-	1	0	ZZEF1	3914765	0.998000	0.40836	0.836000	0.33094	0.146000	0.21551	5.445000	0.66594	2.607000	0.88179	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	0	0	0	10	545	0	83	0	1.414227e-01	0	33	0	83	2		0	0	0	0	0	2	1	9.965351e-01	10	532	0	83	2								-8.106453	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.230000	0.110000	1.000000	0.210000	0.312913	0.230000	0	1.600000e-01	3.500000e-01
ZZEF1	23140	broad.mit.edu	37	17	3968078	3968078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968078G>A	ENST00000381638.2	-	29	4419	c.4295C>T	c.(4294-4296)cCc>cTc	p.P1432L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1			84					TATGCCCGTGGGCAGAAATTT	0.393000																								0							SO:0001583	missense			ENST00000381638.2	1	1	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384916	0.82792	.	.	ENSG00000074755	ENST00000381638	T	0.25579	1.79	5.53	5.53	0.82687	.	0.183743	0.47852	D	0.000205	T	0.47691	0.1459	M	0.62723	1.935	0.80722	D	1	D;P	0.57257	0.979;0.905	P;B	0.59643	0.861;0.403	T	0.44682	-0.9312	10	0.87932	D	0	-10.902	19.4588	0.94908	0.0:0.0:1.0:0.0	.	1432;1432	O43149-2;O43149	.;ZZEF1_HUMAN	L	1432	ENSP00000371051:P1432L	ENSP00000371051:P1432L	P	-	2	0	ZZEF1	3914827	1.000000	0.71417	0.965000	0.40720	0.801000	0.45260	8.049000	0.89443	2.607000	0.88179	0.591000	0.81541	CCC		TCGA-IB-7651-01A-11D-2154-08	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	1	0	1	118	488	0	81	1	9.606937e-01	4	20	0	81	2		0	0	0	0	0	2	1	1	117	477	0	80	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT19	3880	broad.mit.edu	37	17	39684192	39684192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39684192G>A	ENST00000361566.3	-	1	368	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19			12		Breast(137;0.00038)			GCCGTTGGCCGCCTCCAGGGC	0.657000																								0							SO:0001583	missense			ENST00000361566.3	1	1	hg19	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425371	0.62733	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89552	-2.53;-2.53	4.83	-2.78	0.05859	Filament (1);	2.457230	0.01645	N	0.024244	D	0.85535	0.5719	L	0.42632	1.34	0.09310	N	1	P	0.44260	0.83	B	0.37239	0.244	T	0.77362	-0.2616	10	0.66056	D	0.02	.	14.817	0.70041	0.0:0.0657:0.7151:0.2192	.	103	P08727	K1C19_HUMAN	V	103	ENSP00000355124:A103V;ENSP00000408759:A103V	ENSP00000355124:A103V	A	-	2	0	KRT19	36937718	0.000000	0.05858	0.252000	0.24328	0.992000	0.81027	-0.060000	0.11712	-0.783000	0.04534	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	1	0	0	115	592	0	133	1	1	1430	2083	0	133	2		0	0	0	0	0	2	1	1	115	587	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT16	3868	broad.mit.edu	37	17	39767452	39767452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39767452C>T	ENST00000301653.4	-	4	866	c.802G>A	c.(802-804)Gga>Aga	p.G268R		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16			23		Breast(137;0.000307)			TTCACATCTCCGCCGGTCTGA	0.592000																								0							SO:0001583	missense			ENST00000301653.4	1	1	hg19	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859297	0.51376	.	.	ENSG00000186832	ENST00000301653	D	0.89196	-2.48	4.79	4.79	0.61399	Filament (1);	0.000000	0.52532	D	0.000080	D	0.94414	0.8203	M	0.79258	2.445	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.95138	0.8261	10	0.87932	D	0	.	17.809	0.88610	0.0:1.0:0.0:0.0	.	268	P08779	K1C16_HUMAN	R	268	ENSP00000301653:G268R	ENSP00000301653:G268R	G	-	1	0	KRT16	37020978	1.000000	0.71417	0.913000	0.36048	0.014000	0.08584	7.818000	0.86416	2.371000	0.80710	0.462000	0.41574	GGA		TCGA-IB-7651-01A-11D-2154-08	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	1	0	1	76	363	0	92	1	9.999931e-01	58	26	0	92	2		0	0	0	0	0	2	1	1	75	348	0	91	2								-2.958708	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT16	3868	broad.mit.edu	37	17	39768755	39768755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39768755G>A	ENST00000301653.4	-	1	250	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16			23		Breast(137;0.000307)			CCCCCAGCCCGCAGGCTCCCC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000301653.4	0	1	hg19	CCDS11401.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	1	0	1	14	91	0	20	1	2.579809e-01	2	5	0	20	2		0	0	0	0	0	2	1	9.997338e-01	14	85	0	18	2								-8.994085	1	1	120958	18	39	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.920000	1.000000	1.000000	0.995340	0.990000	1	9.900000e-01	1
ZZEF1	23140	broad.mit.edu	37	17	3977461	3977461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3977461G>A	ENST00000381638.2	-	24	3792	c.3668C>T	c.(3667-3669)gCg>gTg	p.A1223V	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1			84					AGACTTGAGCGCCATGCACTG	0.597000																								0							SO:0001583	missense			ENST00000381638.2	1	1	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378065	0.95945	.	.	ENSG00000074755	ENST00000381638	T	0.23950	1.88	5.87	5.87	0.94306	.	0.049827	0.85682	D	0.000000	T	0.43122	0.1233	L	0.57536	1.79	0.58432	D	0.999999	D	0.69078	0.997	P	0.53809	0.735	T	0.20405	-1.0276	10	0.66056	D	0.02	-9.3989	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1223	O43149	ZZEF1_HUMAN	V	1223	ENSP00000371051:A1223V	ENSP00000371051:A1223V	A	-	2	0	ZZEF1	3924210	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	7.516000	0.81772	2.780000	0.95670	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	0	0	1	148	625	1	146	1	9.646023e-01	6	19	1	146	2		0	0	0	0	0	2	1	1	145	616	0	145	2								-20.000000	1	1	121412	6	42	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT17	3872	broad.mit.edu	37	17	39777096	39777096	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777096C>A	ENST00000311208.8	-	6	1063	c.996G>T	c.(994-996)gaG>gaT	p.E332D	JUP_ENST00000540235.1_Missense_Mutation_p.E491D	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17			12		Breast(137;0.000307)			AGTAGCGGTTCTCTGTCTCCG	0.637000													Pancreas(92;1242 2086 39193 50508)											0							SO:0001583	missense			ENST00000311208.8	1	1	hg19	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076142	0.55646	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91894	-2.93;-2.93	4.0	3.03	0.35002	Filament (1);	0.138484	0.32868	N	0.005548	D	0.93252	0.7850	M	0.86268	2.805	0.23287	N	0.99798	B	0.27823	0.19	B	0.40375	0.327	D	0.88549	0.3115	10	0.72032	D	0.01	.	10.116	0.42591	0.0:0.8399:0.0:0.1601	.	332	Q04695	K1C17_HUMAN	D	332;491	ENSP00000308452:E332D;ENSP00000441751:E491D	ENSP00000441751:E491D	E	-	3	2	JUP;KRT17	37030622	0.006000	0.16342	1.000000	0.80357	0.983000	0.72400	0.138000	0.16016	2.234000	0.73211	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	0	0	0	94	329	0	62	1	1	345	469	0	62	2		0	0	0	0	0	2	1	1	92	324	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRT17	3872	broad.mit.edu	37	17	39777943	39777943	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777943C>A	ENST00000311208.8	-	4	803	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	JUP_ENST00000540235.1_Missense_Mutation_p.G405C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17			12		Breast(137;0.000307)			AGGTCCACGCCTGGGGCAGCG	0.567000													Pancreas(92;1242 2086 39193 50508)											0							SO:0001583	missense			ENST00000311208.8	1	0	hg19	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425396	0.43020	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	T;T	0.77358	-1.09;-1.09	3.97	3.97	0.46021	Prefoldin (1);Filament (1);	0.000000	0.48286	D	0.000199	D	0.91556	0.7333	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85779	0.1360	10	0.87932	D	0	.	16.6211	0.84930	0.0:1.0:0.0:0.0	.	246	Q04695	K1C17_HUMAN	C	246;405	ENSP00000308452:G246C;ENSP00000441751:G405C	ENSP00000441751:G405C	G	-	1	0	JUP;KRT17	37031469	0.014000	0.17966	0.702000	0.30337	0.417000	0.31264	1.905000	0.39878	2.214000	0.71695	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	1	0	0	22	534	0	110	1	1	10	1034	0	110	2		0	0	0	0	0	2	1	9.999984e-01	22	521	0	110	2								-3.214983	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.480000	0.300000	1.000000	0.470000	0.535518	0.480000	0	3.800000e-01	6.400000e-01
GAST	2520	broad.mit.edu	37	17	39872089	39872089	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39872089G>T	ENST00000329402.3	+	3	338	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin			7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)		TGGATGGATGGACTTCGGCCG	0.572000																								0							SO:0001583	missense			ENST00000329402.3	1	1	hg19	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580594	0.46006	.	.	ENSG00000184502	ENST00000329402	T	0.69040	-0.37	4.74	4.74	0.60224	Gastrin/cholecystokinin peptide hormone (2);Gastrin/cholecystokinin, conserved site (1);	0.000000	0.53938	D	0.000056	T	0.80924	0.4717	M	0.79475	2.455	0.40748	D	0.982895	D	0.89917	1.0	D	0.97110	1.0	D	0.83801	0.0236	10	0.87932	D	0	-27.5677	13.1178	0.59309	0.0:0.0:1.0:0.0	.	91	P01350	GAST_HUMAN	Y	91	ENSP00000331358:D91Y	ENSP00000331358:D91Y	D	+	1	0	GAST	37125615	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	4.178000	0.58284	2.455000	0.83008	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1	1	0	1	98	413	0	121	0	0	0	1	0	121	2		0	0	0	0	0	2	1	1	93	400	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAP1	9001	broad.mit.edu	37	17	39880966	39880966	+	Missense_Mutation	SNP	G	G	A	rs34381648	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39880966G>A	ENST00000310778.5	-	12	2012	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.S591L|HAP1_ENST00000347901.4_Missense_Mutation_p.S616L|HAP1_ENST00000341193.5_Missense_Mutation_p.S599L			P54257	HAP1_HUMAN	huntingtin-associated protein 1			21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)		TCGGCACGACGATCTGCAGCT	0.597000																								0							SO:0001583	missense			ENST00000310778.5	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	8.438	0.850195	0.17034	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.08008	3.14;3.4;3.25;3.14	3.63	1.62	0.23740	.	0.487129	0.15509	N	0.258658	T	0.05090	0.0136	N	0.24115	0.695	0.21184	N	0.999767	B;B;B;B	0.27117	0.168;0.168;0.045;0.027	B;B;B;B	0.16722	0.016;0.016;0.016;0.007	T	0.33701	-0.9858	10	0.87932	D	0	-1.9238	5.2562	0.15548	0.264:0.0:0.736:0.0	.	591;599;616;668	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	591;668;616;599	ENSP00000377513:S591L;ENSP00000309392:S668L;ENSP00000334002:S616L;ENSP00000343170:S599L	ENSP00000309392:S668L	S	-	2	0	HAP1	37134492	0.074000	0.21230	0.268000	0.24571	0.011000	0.07611	0.184000	0.16939	0.877000	0.35895	-0.350000	0.07774	TCG		TCGA-IB-7651-01A-11D-2154-08	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	1	0	1	125	769	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	120	758	0	121	2								-3.142668	1	1	121406	2428	68	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAP1	9001	broad.mit.edu	37	17	39881248	39881248	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39881248G>T	ENST00000310778.5	-	12	1730	c.1721C>A	c.(1720-1722)gCt>gAt	p.A574D	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.A497D|HAP1_ENST00000347901.4_Missense_Mutation_p.A522D|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D			P54257	HAP1_HUMAN	huntingtin-associated protein 1	p.A522G(1)		21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)		CCCTTCCTCAGCCGGCACCTT	0.632000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000310778.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.54	3.153146	0.57259	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.38560	1.13;2.9;3.19;3.01;2.91	4.14	3.13	0.36017	.	0.370487	0.19922	N	0.103074	T	0.45175	0.1329	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.63046	0.992;0.992;0.98;0.965	P;P;P;P	0.58391	0.838;0.774;0.745;0.561	T	0.28713	-1.0035	10	0.87932	D	0	-0.869	10.9717	0.47442	0.0:0.0:0.8117:0.1883	.	497;505;522;574	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	D	29;497;574;522;505	ENSP00000404640:A29D;ENSP00000377513:A497D;ENSP00000309392:A574D;ENSP00000334002:A522D;ENSP00000343170:A505D	ENSP00000309392:A574D	A	-	2	0	HAP1	37134774	0.021000	0.18746	0.002000	0.10522	0.019000	0.09904	2.406000	0.44557	1.041000	0.40125	0.511000	0.50034	GCT		TCGA-IB-7651-01A-11D-2154-08	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	1	0	0	96	1965	0	437		0	0	0	0	437	2		0	0	0	0	0	2	1	1	94	1900	0	432	2								-7.319677	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.550000	0.450000	1.000000	0.550000	0.600320	0.550000	0	5.000000e-01	6.400000e-01
JUP	3728	broad.mit.edu	37	17	39919402	39919402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39919402G>A	ENST00000393931.3	-	8	1448	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R444C|JUP_ENST00000310706.5_Missense_Mutation_p.R444C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin			23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)		TCACCAGCACGCAGGATGGCA	0.612000													Colon(16;42 520 6044 17852 28530)											0							SO:0001583	missense			ENST00000393931.3	1	1	hg19	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728521	0.69074	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.01406	4.93;4.93;4.93	5.08	1.81	0.25067	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.29150	-1.0021	10	0.87932	D	0	-8.3127	7.3789	0.26843	0.1507:0.0:0.7112:0.1381	.	444	P14923	PLAK_HUMAN	C	444	ENSP00000377507:R444C;ENSP00000311113:R444C;ENSP00000377508:R444C	ENSP00000311113:R444C	R	-	1	0	JUP	37172928	1.000000	0.71417	0.976000	0.42696	0.847000	0.48162	2.941000	0.49011	0.668000	0.31126	0.491000	0.48974	CGT		TCGA-IB-7651-01A-11D-2154-08	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1	1	0	1	58	262	0	56	1	1	262	491	0	56	2		0	0	0	0	0	2	1	1	57	256	0	56	2								-20.000000	1	1	121412	2	30	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FKBP10	60681	broad.mit.edu	37	17	39977920	39977920	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39977920G>T	ENST00000321562.4	+	9	1518	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa			14		Breast(137;0.00122)			GGGAGTCCCAGGCAGTGCTGT	0.657000																								0							SO:0001583	missense			ENST00000321562.4	1	1	hg19	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.485740|3.485740	0.63962|0.63962	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340|ENST00000455106	T;T|.	0.56444|.	0.46;0.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);|.	0.153182|.	0.42053|.	D|.	0.000771|.	D|D	0.84973|0.84973	0.5591|0.5591	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.83275|.	0.996;0.967|.	D|D	0.88415|0.88415	0.3024|0.3024	10|5	0.52906|.	T|.	0.07|.	-18.8789|-18.8789	14.788|14.788	0.69819|0.69819	0.0:0.144:0.856:0.0|0.0:0.144:0.856:0.0	.|.	245;472|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	C|H	360;472;472;245|275	ENSP00000317232:G472C;ENSP00000442009:G245C|.	ENSP00000269598:G360C|.	G|Q	+|+	1|3	0|2	FKBP10|FKBP10	37231446|37231446	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.680000|0.680000	0.39746|0.39746	3.264000|3.264000	0.51553|0.51553	2.550000|2.550000	0.86006|0.86006	0.455000|0.455000	0.32223|0.32223	GGC|CAG		TCGA-IB-7651-01A-11D-2154-08	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	1	0	1	64	341	0	82	1	1	2	349	0	82	2		0	0	0	0	0	2	1	1	65	333	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FKBP10	60681	broad.mit.edu	37	17	39978520	39978520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39978520C>A	ENST00000321562.4	+	10	1713	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa			14		Breast(137;0.00122)			CAAAGGACGCCTCATGCCTGG	0.602000																								0							SO:0001583	missense			ENST00000321562.4	1	1	hg19	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.018100|4.018100	0.75275|0.75275	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000544340|ENST00000414352	T;T|.	0.55052|.	0.54;0.54|.	5.73|5.73	5.73|5.73	0.89815|0.89815	EF-hand-like domain (1);|.	0.085714|.	0.48286|.	D|.	0.000194|.	T|T	0.48150|0.48150	0.1484|0.1484	L|L	0.28115|0.28115	0.83|0.83	0.49130|0.49130	D|D	0.999752|0.999752	P;B|.	0.45283|.	0.855;0.077|.	B;B|.	0.44163|.	0.443;0.021|.	T|T	0.50742|0.50742	-0.8792|-0.8792	10|6	0.34782|0.72032	T|D	0.22|0.01	-27.9767|-27.9767	8.9862|8.9862	0.35994|0.35994	0.1487:0.7782:0.0:0.0731|0.1487:0.7782:0.0:0.0731	.|.	310;537|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	I|H	425;537;310|536	ENSP00000317232:L537I;ENSP00000442009:L310I|.	ENSP00000269598:L425I|ENSP00000389800:P536H	L|P	+|+	1|2	0|0	FKBP10|FKBP10	37232046|37232046	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.858000|0.858000	0.48976|0.48976	3.196000|3.196000	0.51020|0.51020	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	CTC|CCT		TCGA-IB-7651-01A-11D-2154-08	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	1	0	0	12	138	0	35	1	9.999999e-01	2	439	0	35	2		0	0	0	0	0	2	1	9.991426e-01	12	135	0	35	2								-16.920560	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.540000	1.000000	1.000000	0.899857	0.990000	1	7.300000e-01	1
KLHL10	317719	broad.mit.edu	37	17	39994291	39994291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39994291G>A	ENST00000293303.4	+	1	260	c.107G>A	c.(106-108)gGc>gAc	p.G36D	NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|KLHL10_ENST00000485613.1_3'UTR|RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000269534.8_5'Flank	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10			26		Breast(137;0.000162)			AGACTAGAGGGCAAGCTCTGC	0.522000																								0							SO:0001583	missense			ENST00000293303.4	1	1	hg19	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514210	0.64522	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	T;T;T	0.72167	-0.63;-0.63;-0.63	4.84	4.84	0.62591	BTB/POZ (1);BTB/POZ fold (2);	0.478194	0.23137	N	0.051501	T	0.78091	0.4229	L	0.49778	1.585	0.42499	D	0.992925	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.917	T	0.74321	-0.3703	10	0.26408	T	0.33	.	14.8509	0.70295	0.0:0.0:1.0:0.0	.	36;36	B4DXV2;Q6JEL2	.;KLH10_HUMAN	D	36	ENSP00000391983:G36D;ENSP00000293303:G36D;ENSP00000416221:G36D	ENSP00000293303:G36D	G	+	2	0	KLHL10	37247817	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.787000	0.69013	2.542000	0.85734	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	1	0	1	109	418	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1	106	410	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL10	317719	broad.mit.edu	37	17	39998189	39998189	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998189T>C	ENST00000293303.4	+	2	462	c.309T>C	c.(307-309)ccT>ccC	p.P103P	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10			26		Breast(137;0.000162)			GGACCGTGCCTATCACACCGG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000293303.4	1	1	hg19	CCDS42340.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	1	0	1	93	352	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	91	345	0	96	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL10	317719	broad.mit.edu	37	17	39998252	39998252	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998252C>T	ENST00000293303.4	+	2	525	c.372C>T	c.(370-372)atC>atT	p.I124I	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10			26		Breast(137;0.000162)			TCATGGGTATCGTCAGGGGTT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000293303.4	1	1	hg19	CCDS42340.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	1	0	1	76	275	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	73	269	0	75	2								-20.000000	1	0	120922	4	37	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10			26		Breast(137;0.000162)			TGATGCAAGCGCCACAACACT	0.498000																								0							SO:0001583	missense			ENST00000293303.4	1	1	hg19	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248200	0.80024	.	.	ENSG00000161594	ENST00000293303	T	0.80214	-1.35	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.202592	0.50627	D	0.000103	D	0.88108	0.6348	M	0.71296	2.17	0.51767	D	0.999933	D;D	0.71674	0.989;0.998	P;P	0.60415	0.627;0.874	D	0.86624	0.1881	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	422;428	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	428	ENSP00000293303:A428T	.	A	+	1	0	KLHL10	37255501	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	3.880000	0.56145	2.885000	0.99019	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	1	0	1	48	204	0	65	0	3.753064e-02	0	2	0	65	2		0	0	0	0	0	2	1	1	48	196	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL11	55175	broad.mit.edu	37	17	40010534	40010534	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40010534T>C	ENST00000319121.3	-	2	1645	c.1585A>G	c.(1585-1587)Aca>Gca	p.T529A	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11			17		Breast(137;0.00156)			CGAGTCTCTGTATCATAGCAA	0.438000																								0							SO:0001583	missense			ENST00000319121.3	1	1	hg19	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	0.323	-0.961002	0.02249	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.66638	-0.22	5.26	4.18	0.49190	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.29908	0.895	0.45946	D	0.998776	B	0.15473	0.013	B	0.12156	0.007	T	0.44757	-0.9307	10	0.40728	T	0.16	-0.0634	9.0051	0.36106	0.0:0.2059:0.0:0.7941	.	529	Q9NVR0	KLH11_HUMAN	A	529;392	ENSP00000314608:T529A	ENSP00000314608:T529A	T	-	1	0	KLHL11	37264060	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	3.133000	0.50531	0.942000	0.37525	0.477000	0.44152	ACA		TCGA-IB-7651-01A-11D-2154-08	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	1	0	1	95	376	0	80	1	8.830006e-01	4	13	0	80	2		0	0	0	0	0	2	1	1	94	369	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL11	55175	broad.mit.edu	37	17	40011445	40011445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40011445G>A	ENST00000319121.3	-	2	734	c.674C>T	c.(673-675)gCt>gTt	p.A225V		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11			17		Breast(137;0.00156)			TATCATATCAGCAGCCTTCAG	0.383000																								0							SO:0001583	missense			ENST00000319121.3	1	1	hg19	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768529	0.31320	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.68903	-0.36	4.84	4.84	0.62591	BTB/Kelch-associated (2);	0.124523	0.53938	D	0.000058	T	0.51753	0.1693	N	0.25647	0.755	0.80722	D	1	B	0.26363	0.147	B	0.13407	0.009	T	0.50101	-0.8867	10	0.33141	T	0.24	5.868	13.8592	0.63550	0.0:0.0:0.8372:0.1628	.	225	Q9NVR0	KLH11_HUMAN	V	225;88	ENSP00000314608:A225V	ENSP00000314608:A225V	A	-	2	0	KLHL11	37264971	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	9.318000	0.96334	2.225000	0.72522	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	0	0	0	13	504	0	102	1	9.436957e-02	2	17	0	102	2		0	0	0	0	0	2	1	9.994728e-01	13	493	0	101	2								-3.236981	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.310000	0.170000	1.000000	0.300000	0.383684	0.310000	0	2.300000e-01	4.500000e-01
ACLY	47	broad.mit.edu	37	17	40039420	40039420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40039420G>A	ENST00000352035.2	-	20	2350	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	ACLY_ENST00000590151.1_Silent_p.I740I|ACLY_ENST00000393896.2_Silent_p.I730I|ACLY_ENST00000353196.1_Silent_p.I730I|ACLY_ENST00000537919.1_Silent_p.I469I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase		NTN1/ACLY(2)	28		Breast(137;0.000143)			ACCAGCAGACGATGGGCTTAG	0.562000													Colon(64;807 1396 15971 30971)											0							SO:0001819	synonymous_variant			ENST00000352035.2	0	1	hg19	CCDS11412.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	0	0	0	8	467	0	83	1	9.950153e-01	15	552	0	83	2		0	0	0	0	0	2	1	9.885381e-01	8	457	0	82	2								-2.902372	1	0	121412	1	38	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.210000	0.090000	1.000000	0.200000	0.297260	0.210000	0	1.400000e-01	3.400000e-01
ACLY	47	broad.mit.edu	37	17	40040492	40040492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40040492C>T	ENST00000352035.2	-	19	2238	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ACLY_ENST00000590151.1_Missense_Mutation_p.R703H|ACLY_ENST00000393896.2_Missense_Mutation_p.R693H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H|ACLY_ENST00000537919.1_Missense_Mutation_p.R432H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase		NTN1/ACLY(2)	28		Breast(137;0.000143)			GTCCTGATAGCGTAACACATG	0.438000													Colon(64;807 1396 15971 30971)											0							SO:0001583	missense			ENST00000352035.2	1	1	hg19	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969705	0.92855	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.69	5.69	0.88448	Succinyl-CoA synthetase-like (1);Citrate synthase-like, core (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	H	0.96015	3.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.954;1.0;1.0;1.0;0.999	D	0.93454	0.6804	10	0.87932	D	0	.	19.8073	0.96535	0.0:1.0:0.0:0.0	.	432;747;757;693;703	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	703;757;693;432;693	ENSP00000253792:R703H;ENSP00000345398:R693H;ENSP00000445349:R432H;ENSP00000377474:R693H	ENSP00000253792:R703H	R	-	2	0	ACLY	37294018	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	7.704000	0.84595	2.685000	0.91497	0.455000	0.32223	CGC		TCGA-IB-7651-01A-11D-2154-08	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	0	0	1	42	164	1	56	1	1	67	290	1	56	20		0	0	0	0	0	2	1	9.999938e-01	41	161	1	56	13								-3.697942	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACLY	47	broad.mit.edu	37	17	40048575	40048575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40048575C>T	ENST00000352035.2	-	16	1857	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	ACLY_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000393896.2_Missense_Mutation_p.R566H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H|ACLY_ENST00000537919.1_Missense_Mutation_p.R305H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase		NTN1/ACLY(2)	28		Breast(137;0.000143)			ATAGGCAGAGCGGAGAGAGGC	0.552000													Colon(64;807 1396 15971 30971)											0							SO:0001583	missense			ENST00000352035.2	1	1	hg19	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395884	0.96009	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.64	5.64	0.86602	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.991;0.996;0.996;0.999;0.991	D	0.95226	0.8338	10	0.87932	D	0	.	20.0666	0.97706	0.0:1.0:0.0:0.0	.	305;620;630;566;576	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	H	576;630;566;305;566	ENSP00000253792:R576H;ENSP00000345398:R566H;ENSP00000445349:R305H;ENSP00000377474:R566H	ENSP00000253792:R576H	R	-	2	0	ACLY	37302101	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	7.729000	0.84864	2.826000	0.97356	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	1	0	1	42	230	0	58	1	1	99	267	0	58	2		0	0	0	0	0	2	1	1	42	226	0	58	2								-3.089272	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ACLY	47	broad.mit.edu	37	17	40062789	40062789	+	Silent	SNP	G	G	A	rs115877497	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40062789G>A	ENST00000352035.2	-	8	988	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ACLY_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000393896.2_Silent_p.V286V|ACLY_ENST00000353196.1_Silent_p.V286V|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase		NTN1/ACLY(2)	28		Breast(137;0.000143)			ACCTGTACACGACAGAGGCGC	0.602000													Colon(64;807 1396 15971 30971)											0							SO:0001819	synonymous_variant			ENST00000352035.2	1	1	hg19	CCDS11412.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	1	0	1	97	457	0	109	1	1	81	303	0	109	2		0	0	0	0	0	2	1	1	96	442	0	106	2								-3.970872	1	1	121412	106	53	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNP	1267	broad.mit.edu	37	17	40120260	40120260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40120260G>A	ENST00000393892.3	+	2	322	c.178G>A	c.(178-180)Gga>Aga	p.G60R	CNP_ENST00000472031.1_Intron|CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.G40R|TTC25_ENST00000591658.1_RNA|CNP_ENST00000592446.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase			9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)			CGGCCTGCCAGGAAGCGGCAA	0.602000																								0							SO:0001583	missense			ENST00000393892.3	1	1	hg19	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	33	5.246472	0.95305	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888;ENST00000441615	T;T;T	0.68479	-0.33;-0.33;-0.33	4.86	4.86	0.63082	Zeta toxin domain (1);	0.171566	0.50627	D	0.000109	D	0.83571	0.5283	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86021	0.1507	10	0.87932	D	0	-26.7928	18.5312	0.90993	0.0:0.0:1.0:0.0	.	60;60;40	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	R	60;60;40;40	ENSP00000377470:G60R;ENSP00000377466:G40R;ENSP00000413104:G40R	ENSP00000309643:G60R	G	+	1	0	CNP	37373786	1.000000	0.71417	0.930000	0.37139	0.989000	0.77384	8.357000	0.90088	2.683000	0.91414	0.555000	0.69702	GGA		TCGA-IB-7651-01A-11D-2154-08	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2	1	0	1	26	181	0	42	1	1	64	213	0	42	2		0	0	0	0	0	2	1	9.999999e-01	26	176	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.998586	0.990000	1	9.900000e-01	1
CNP	1267	broad.mit.edu	37	17	40125661	40125661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40125661G>A	ENST00000393892.3	+	4	1129	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Missense_Mutation_p.A94T|CNP_ENST00000393888.1_Missense_Mutation_p.A309T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase			9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)			GGGGAGCCGCGCCCACATCAC	0.652000																								0							SO:0001583	missense			ENST00000393892.3	1	1	hg19	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378658	0.82682	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.58358	0.34;0.34	4.83	4.83	0.62350	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.184155	0.47093	D	0.000259	T	0.71500	0.3347	M	0.69823	2.125	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75105	-0.3435	10	0.87932	D	0	-13.2322	15.8956	0.79333	0.0:0.0:1.0:0.0	.	206;329	B4DI06;P09543	.;CN37_HUMAN	T	329;205;309	ENSP00000377470:A329T;ENSP00000377466:A309T	ENSP00000309643:A205T	A	+	1	0	CNP	37379187	1.000000	0.71417	0.275000	0.24674	0.525000	0.34531	8.737000	0.91562	2.509000	0.84616	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2	1	0	1	82	365	0	80	1	1	64	239	0	80	2		0	0	0	0	0	2	1	1	81	359	0	77	2								-20.000000	1	1	120960	1	32	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX58	79132	broad.mit.edu	37	17	40257177	40257177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257177C>T	ENST00000251642.3	-	10	1482	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58			16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)			TCACTTCTTGCTGGTCCCTCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000251642.3	1	1	hg19	CCDS11416.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	1	0	1	25	111	0	30	1	9.999993e-01	31	82	0	30	2		0	0	0	0	0	2	1	9.999999e-01	24	109	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
DHX58	79132	broad.mit.edu	37	17	40259626	40259626	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259626G>A	ENST00000251642.3	-	8	1215	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58			16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)			CCTCACCATCGAACAGGGCCA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000251642.3	1	1	hg19	CCDS11416.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	0	0	0	27	92	0	24	1	1	34	113	0	24	2		0	0	0	0	0	2	1	1	26	91	0	24	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX58	79132	broad.mit.edu	37	17	40259654	40259654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259654C>T	ENST00000251642.3	-	8	1187	c.965G>A	c.(964-966)tGt>tAt	p.C322Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58			16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)			GCGCTCGGCACACAGGATCTG	0.662000																								0							SO:0001583	missense			ENST00000251642.3	1	1	hg19	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659381	0.47467	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.04275	3.66	5.38	-6.61	0.01818	.	1.661990	0.03753	N	0.256957	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.09377	0.004;0.004	T	0.46652	-0.9176	10	0.59425	D	0.04	.	8.7319	0.34505	0.0:0.588:0.1601:0.2519	.	315;322	B7Z455;Q96C10	.;DHX58_HUMAN	Y	322;285	ENSP00000251642:C322Y	ENSP00000251642:C322Y	C	-	2	0	DHX58	37513180	0.000000	0.05858	0.006000	0.13384	0.982000	0.71751	-3.723000	0.00383	-0.846000	0.04174	0.462000	0.41574	TGT		TCGA-IB-7651-01A-11D-2154-08	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	1	0	0	24	107	0	30	1	9.999993e-01	18	97	0	30	2		0	0	0	0	0	2	1	9.999998e-01	23	106	0	30	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
KAT2A	2648	broad.mit.edu	37	17	40266508	40266508	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40266508G>A	ENST00000225916.5	-	14	2187	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A			18					CCCTGCTTACGAATGCCAGGA	0.587000																								0							SO:0001630	splice_region_variant			ENST00000225916.5	0	1	hg19	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631659	0.96682	.	.	ENSG00000108773	ENST00000225916	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.445	17.8076	0.88606	0.0:0.0:1.0:0.0	.	.	.	.	X	712	.	.	R	-	1	2	KAT2A	37520034	0.995000	0.38212	0.999000	0.59377	0.384000	0.30261	1.883000	0.39658	2.192000	0.70111	0.462000	0.41574	CGA		TCGA-IB-7651-01A-11D-2154-08	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	0	0	0	154	1106	1	267	1	9.952454e-01	3	71	1	267	3		0	0	0	0	0	2	1	1	150	1084	2	264	23								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KAT2A	2648	broad.mit.edu	37	17	40267794	40267794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40267794G>A	ENST00000225916.5	-	12	1875	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A			18					AGGAAGTAGAGAATGTTGTGC	0.582000																								0							SO:0001583	missense			ENST00000225916.5	1	1	hg19	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927266	0.92389	.	.	ENSG00000108773	ENST00000225916	T	0.05925	3.37	5.32	5.32	0.75619	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.33485	1.01	0.80722	D	1	D	0.63880	0.993	P	0.61874	0.895	T	0.00842	-1.1544	10	0.56958	D	0.05	-26.4525	18.5847	0.91185	0.0:0.0:1.0:0.0	.	608	Q92830	KAT2A_HUMAN	F	608	ENSP00000225916:L608F	ENSP00000225916:L608F	L	-	1	0	KAT2A	37521320	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.488000	0.83962	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	1	0	1	111	584	0	135	1	9.999960e-01	36	57	0	135	2		0	0	0	0	0	2	1	1	110	566	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KAT2A	2648	broad.mit.edu	37	17	40271425	40271425	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40271425C>A	ENST00000225916.5	-	6	964	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A			18					GCTATCACAGCTCTGGGGCAC	0.607000																								0							SO:0001583	missense			ENST00000225916.5	1	1	hg19	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529346	0.44969	.	.	ENSG00000108773	ENST00000225916	T	0.04917	3.53	4.69	3.7	0.42460	PCAF, N-terminal (1);	0.043254	0.85682	D	0.000000	T	0.07999	0.0200	L	0.36672	1.1	0.52501	D	0.999959	B	0.29805	0.257	B	0.36030	0.216	T	0.31280	-0.9949	10	0.33940	T	0.23	-20.4372	14.1904	0.65635	0.1507:0.8493:0.0:0.0	.	304	Q92830	KAT2A_HUMAN	I	304	ENSP00000225916:S304I	ENSP00000225916:S304I	S	-	2	0	KAT2A	37524951	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.005000	0.49521	1.175000	0.42826	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	1	0	1	106	496	0	141	1	9.998846e-01	18	45	0	141	2		0	0	0	0	0	2	1	1	104	486	0	141	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH4	23415	broad.mit.edu	37	17	40312104	40312104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40312104C>A	ENST00000264661.3	-	16	3340	c.3008G>T	c.(3007-3009)aGc>aTc	p.S1003I	KCNH4_ENST00000607371.1_Missense_Mutation_p.S1003I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			CCTCAAGAGGCTTGGGGTTGG	0.652000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001583	missense			ENST00000264661.3	0	1	hg19	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905727	0.17760	.	.	ENSG00000089558	ENST00000264661	D	0.98835	-5.17	5.02	3.02	0.34903	.	0.136685	0.33631	N	0.004718	D	0.93854	0.8034	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.23018	0.043	D	0.89055	0.3458	10	0.66056	D	0.02	.	6.6623	0.23020	0.0:0.7241:0.1803:0.0956	.	1003	Q9UQ05	KCNH4_HUMAN	I	1003	ENSP00000264661:S1003I	ENSP00000264661:S1003I	S	-	2	0	KCNH4	37565630	0.680000	0.27605	0.722000	0.30670	0.386000	0.30323	0.986000	0.29590	0.691000	0.31592	-0.305000	0.09177	AGC		TCGA-IB-7651-01A-11D-2154-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	0	0	8	241	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.882278e-01	8	233	0	49	2								-9.694676	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.410000	0.190000	1.000000	0.380000	0.474488	0.410000	0	2.800000e-01	6.300000e-01
KCNH4	23415	broad.mit.edu	37	17	40317623	40317623	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40317623A>G	ENST00000264661.3	-	11	2261	c.1929T>C	c.(1927-1929)agT>agC	p.S643S	KCNH4_ENST00000607371.1_Silent_p.S643S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			TCACATCAGCACTGGTCTTTA	0.597000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001819	synonymous_variant			ENST00000264661.3	1	1	hg19	CCDS11420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	0	0	39	264	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	37	262	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999794	0.990000	1	9.900000e-01	1
KCNH4	23415	broad.mit.edu	37	17	40318319	40318319	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318319G>T	ENST00000264661.3	-	10	2168	c.1836C>A	c.(1834-1836)atC>atA	p.I612I	KCNH4_ENST00000607371.1_Silent_p.I612I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			CCTTACCCAGGATGGCCAGCA	0.607000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001819	synonymous_variant			ENST00000264661.3	0	1	hg19	CCDS11420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	0	0	9	71	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.948237e-01	9	70	0	9	2								-15.918490	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.690000	1.000000	1.000000	0.972345	0.990000	1	9.800000e-01	1
KCNH4	23415	broad.mit.edu	37	17	40318495	40318495	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318495G>T	ENST00000264661.3	-	10	1992	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			AACAACGGCAGCTGCAGGATC	0.607000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001583	missense			ENST00000264661.3	1	1	hg19	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120584	0.77323	.	.	ENSG00000089558	ENST00000264661	D	0.96940	-4.18	4.2	3.19	0.36642	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.31461	N	0.007619	D	0.97445	0.9164	M	0.74881	2.28	0.50632	D	0.999889	D	0.89917	1.0	D	0.91635	0.999	D	0.96949	0.9693	10	0.52906	T	0.07	.	12.2967	0.54852	0.0851:0.0:0.9149:0.0	.	554	Q9UQ05	KCNH4_HUMAN	M	554	ENSP00000264661:L554M	ENSP00000264661:L554M	L	-	1	2	KCNH4	37572021	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.745000	0.62125	2.182000	0.69389	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	1	0	0	11	232	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	9.981682e-01	11	225	0	48	2								-13.057070	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.570000	0.290000	1.000000	0.530000	0.611824	0.570000	0	4.100000e-01	8.200000e-01
KCNH4	23415	broad.mit.edu	37	17	40321559	40321559	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40321559T>C	ENST00000264661.3	-	9	1858	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			CATGCGCTGCTTGAGCGGCCG	0.632000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001583	missense			ENST00000264661.3	1	1	hg19	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795161	0.50208	.	.	ENSG00000089558	ENST00000264661	D	0.96522	-4.04	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.40728	N	0.001028	D	0.91205	0.7229	N	0.25286	0.73	0.54753	D	0.999988	B	0.19706	0.038	B	0.26614	0.071	D	0.86502	0.1804	10	0.07482	T	0.82	.	13.3792	0.60759	0.0:0.0:0.0:1.0	.	509	Q9UQ05	KCNH4_HUMAN	R	509	ENSP00000264661:K509R	ENSP00000264661:K509R	K	-	2	0	KCNH4	37575085	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	6.067000	0.71193	1.744000	0.51775	0.379000	0.24179	AAG		TCGA-IB-7651-01A-11D-2154-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	1	0	1	62	325	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	62	316	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH4	23415	broad.mit.edu	37	17	40330471	40330471	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40330471T>C	ENST00000264661.3	-	3	667	c.335A>G	c.(334-336)gAc>gGc	p.D112G	KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			GGGCATCATGTCCAGGAGGCA	0.562000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001583	missense			ENST00000264661.3	1	1	hg19	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330240	0.81690	.	.	ENSG00000089558	ENST00000264661	D	0.99578	-6.21	4.99	4.99	0.66335	PAS-associated, C-terminal (1);PAS fold-3 (1);PAS (1);	0.000000	0.42682	D	0.000662	D	0.99638	0.9867	M	0.91459	3.21	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97871	1.0286	10	0.72032	D	0.01	.	12.0825	0.53680	0.0:0.0:0.143:0.8569	.	112	Q9UQ05	KCNH4_HUMAN	G	112	ENSP00000264661:D112G	ENSP00000264661:D112G	D	-	2	0	KCNH4	37583997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.520000	0.53465	2.090000	0.63153	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	1	0	1	21	121	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	9.999982e-01	21	118	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999533	0.990000	1	9.900000e-01	1
GHDC	84514	broad.mit.edu	37	17	40344950	40344950	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344950G>T	ENST00000301671.8	-	3	802	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Missense_Mutation_p.Q121K|GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K|GHDC_ENST00000428494.2_Intron			Q8N2G8	GHDC_HUMAN	GH3 domain containing			13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)			CCAAGGTCCTGGTTTGAGGTC	0.592000																								0							SO:0001583	missense			ENST00000301671.8	1	1	hg19	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.629075	0.28978	.	.	ENSG00000167925	ENST00000393854;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.47	3.42	0.39159	.	0.530530	0.17821	N	0.160851	T	0.26412	0.0645	L	0.29908	0.895	0.09310	N	1	B;B	0.23249	0.082;0.02	B;B	0.21917	0.037;0.006	T	0.06935	-1.0799	9	0.22109	T	0.4	-2.9532	6.5711	0.22539	0.1327:0.0:0.8673:0.0	.	121;121	Q8N2G8-2;Q8N2G8	.;GHDC_HUMAN	K	65;121;121;121	.	ENSP00000301671:Q121K	Q	-	1	0	GHDC	37598476	0.008000	0.16893	0.014000	0.15608	0.028000	0.11728	1.114000	0.31196	2.320000	0.78422	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	1	0	1	145	563	0	126	1	1	30	155	0	126	2		0	0	0	0	0	2	1	1	142	549	0	124	2								-3.363262	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAT5A	6776	broad.mit.edu	37	17	40452779	40452779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40452779C>T	ENST00000345506.4	+	9	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	STAT5A_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A			14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)			GCAGCAGATCCGCAGGGCTGA	0.622000																								0							SO:0001583	missense			ENST00000345506.4	0	1	hg19	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783579	0.70222	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	T;T;T	0.60548	0.18;0.18;0.18	4.39	3.3	0.37823	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.061993	0.64402	D	0.000003	T	0.70649	0.3248	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71656	0.974;0.964;0.922	T	0.75758	-0.3205	10	0.87932	D	0	-19.3167	14.876	0.70493	0.154:0.846:0.0:0.0	.	264;296;294	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	C	294;264;296;294	ENSP00000341208:R294C;ENSP00000443107:R264C;ENSP00000400320:R294C	ENSP00000341208:R294C	R	+	1	0	STAT5A	37706305	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.775000	0.47702	1.984000	0.57885	0.306000	0.20318	CGC		TCGA-IB-7651-01A-11D-2154-08	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	0	0	0	35	197	0	31	1	9.974883e-01	13	42	0	31	2		0	0	0	0	0	2	1	1	31	177	0	67	2								-18.247660	1	1	121378	1	22	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
STAT3	6774	broad.mit.edu	37	17	40468908	40468908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40468908C>T	ENST00000264657.5	-	23	2468	c.2156G>A	c.(2155-2157)aGc>aAc	p.S719N	STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)			35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)			AATGGTATTGCTGCAGGTCGT	0.483000									Hyperimmunoglobulin E Recurrent Infection Syndrome															0							SO:0001583	missense	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	ENST00000264657.5	1	1	hg19	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156564	0.57259	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.96651	-4.08;-4.08;-4.08	5.09	5.09	0.68999	.	0.211503	0.49305	D	0.000154	D	0.91593	0.7344	N	0.14661	0.345	0.45718	D	0.998629	B;B	0.22146	0.065;0.039	B;B	0.18871	0.023;0.01	D	0.87653	0.2529	10	0.22706	T	0.39	-36.6963	18.6865	0.91567	0.0:1.0:0.0:0.0	.	718;719	P40763-2;P40763	.;STAT3_HUMAN	N	719;621;718	ENSP00000264657:S719N;ENSP00000373923:S621N;ENSP00000384943:S718N	ENSP00000264657:S719N	S	-	2	0	STAT3	37722434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.012000	0.70767	2.662000	0.90505	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	1	0	1	73	206	0	70	1	1	139	397	0	70	2		0	0	0	0	0	2	1	1	68	199	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTRF	284119	broad.mit.edu	37	17	40557079	40557079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557079G>A	ENST00000357037.5	-	2	1218	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_012232.5	NP_036364.2			polymerase I and transcript release factor			17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)			AGGGTGTGCCGCGTCTTCTCC	0.607000																								0							SO:0001583	missense			ENST00000357037.5	1	1	hg19	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340340	0.60963	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.66815	-0.23	5.81	3.64	0.41730	.	0.150034	0.41823	D	0.000818	T	0.78233	0.4251	L	0.61218	1.895	0.36143	D	0.846923	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	D	0.85280	0.1061	10	0.87932	D	0	-14.7881	15.557	0.76203	0.0:0.0:0.6534:0.3466	.	249;267	B4DNU9;Q6NZI2	.;PTRF_HUMAN	W	267;222	ENSP00000349541:R267W	ENSP00000349541:R267W	R	-	1	2	PTRF	37810605	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.337000	0.52120	1.463000	0.47967	-0.289000	0.09944	CGG		TCGA-IB-7651-01A-11D-2154-08	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	1	0	1	81	355	0	59	1	1	123	626	0	59	2		0	0	0	0	0	2	1	1	81	352	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTRF	284119	broad.mit.edu	37	17	40557266	40557266	+	Silent	SNP	G	G	A	rs137932986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557266G>A	ENST00000357037.5	-	2	1031	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_012232.5	NP_036364.2			polymerase I and transcript release factor	p.D204D(1)		17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)			CCACCGCCTCGTCCGACGAAA	0.672000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000357037.5	1	1	hg19	CCDS11425.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	1	0	0	260	1013	0	197	1	1	95	427	0	197	2		0	0	0	0	0	2	1	1	253	994	0	194	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6V0A1	535	broad.mit.edu	37	17	40620067	40620067	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40620067T>G	ENST00000343619.4	+	4	359	c.236T>G	c.(235-237)aTt>aGt	p.I79S	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	p.I79N(1)		26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)			AACATTCCGATTATGGACACC	0.393000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000343619.4	1	1	hg19	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671138	0.67814	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.99	5.99	0.97316	.	0.153144	0.56097	D	0.000022	D	0.88433	0.6435	M	0.73962	2.25	0.80722	D	1	B;P;P;P;P;P	0.45240	0.343;0.494;0.621;0.629;0.854;0.567	P;B;P;B;P;P	0.47299	0.474;0.371;0.493;0.243;0.543;0.462	D	0.89748	0.3938	10	0.87932	D	0	-25.0355	16.4943	0.84223	0.0:0.0:0.0:1.0	.	79;79;79;79;79;79	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	S	79	ENSP00000342951:I79S;ENSP00000444676:I79S;ENSP00000377415:I79S;ENSP00000264649:I79S;ENSP00000443991:I79S	ENSP00000264649:I79S	I	+	2	0	ATP6V0A1	37873593	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	4.899000	0.63245	2.291000	0.77112	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	1	0	1	53	233	0	53	1	9.999997e-01	19	83	0	53	2		0	0	0	0	0	2	1	1	52	228	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6V0A1	535	broad.mit.edu	37	17	40646415	40646415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40646415G>A	ENST00000343619.4	+	12	1361	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1			26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)			TTCGGTCATGGCATTTTAATG	0.388000																								0							SO:0001583	missense			ENST00000343619.4	1	1	hg19	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419759	0.96111	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.98199	4.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-13.4495	19.6278	0.95687	0.0:0.0:1.0:0.0	.	370;370;420;413;413	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	D	413;413;413;420;370;59	ENSP00000342951:G413D;ENSP00000444676:G413D;ENSP00000377415:G413D;ENSP00000264649:G420D;ENSP00000443991:G370D;ENSP00000446377:G59D	ENSP00000264649:G420D	G	+	2	0	ATP6V0A1	37899941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.801000	0.99128	2.646000	0.89796	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	1	0	1	74	317	0	82	1	9.999937e-01	23	54	0	82	2		0	0	0	0	0	2	1	1	73	312	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6V0A1	535	broad.mit.edu	37	17	40660601	40660601	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40660601C>T	ENST00000343619.4	+	19	2247	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000393829.2_Intron|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000544137.1_Silent_p.D354D|ATP6V0A1_ENST00000537728.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1			26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)			CTTCCGAGGACGAAGTGGTAA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000343619.4	1	1	hg19	CCDS45684.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	1	0	0	61	298	0	73	0	7.872138e-02	0	3	0	73	2		0	0	0	0	0	2	1	1	60	290	0	72	2								-20.000000	1	0	120730	6	38	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAGLU	4669	broad.mit.edu	37	17	40695695	40695695	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695695C>A	ENST00000225927.2	+	6	1772	c.1671C>A	c.(1669-1671)cgC>cgA	p.R557R	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha			12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		N-Acetyl-D-glucosamine(DB00141)	CCGCCTTCCGCTACGACCTGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000225927.2	1	1	hg19	CCDS11427.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	1	0	0	15	183	0	29	1	9.999886e-01	20	240	0	29	2		0	0	0	0	0	2	1	9.998631e-01	15	177	0	27	2								-19.816080	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.930000	0.540000	1.000000	1.000000	0.882499	0.930000	1	7.100000e-01	1
NAGLU	4669	broad.mit.edu	37	17	40695928	40695928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695928C>T	ENST00000225927.2	+	6	2005	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha			12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		N-Acetyl-D-glucosamine(DB00141)	GAGGCCGAGGCCGATTTCTAC	0.642000																								0							SO:0001583	missense			ENST00000225927.2	0	1	hg19	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469090	0.63625	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98717	-5.09	4.69	2.56	0.30785	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.109437	0.64402	D	0.000007	D	0.98235	0.9416	M	0.73962	2.25	0.47547	D	0.999454	D	0.52996	0.957	P	0.52823	0.71	D	0.96897	0.9657	10	0.30078	T	0.28	-17.0091	13.5916	0.61964	0.0:0.7022:0.2978:0.0	.	635	P54802	ANAG_HUMAN	V	635;311	ENSP00000225927:A635V	ENSP00000225927:A635V	A	+	2	0	NAGLU	37949454	1.000000	0.71417	0.830000	0.32933	0.741000	0.42261	4.670000	0.61583	0.633000	0.30452	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	1	0	1	11	71	0	9	1	9.999999e-01	81	219	0	9	2		0	0	0	0	0	2	1	9.985309e-01	10	70	0	9	2								-19.216600	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.860000	1.000000	1.000000	0.992055	0.990000	1	9.900000e-01	1
NAGLU	4669	broad.mit.edu	37	17	40696083	40696083	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40696083G>T	ENST00000225927.2	+	6	2160	c.2059G>T	c.(2059-2061)Gcc>Tcc	p.A687S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha			12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		N-Acetyl-D-glucosamine(DB00141)	TGACAGTGTGGCCCAGGGCAT	0.587000																								0							SO:0001583	missense			ENST00000225927.2	1	1	hg19	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	1.449	-0.565416	0.03939	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98585	-5.01	5.03	4.07	0.47477	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.641663	0.15989	N	0.234907	D	0.93314	0.7869	N	0.22421	0.69	0.23546	N	0.997445	P	0.34837	0.472	B	0.31946	0.138	D	0.86859	0.2028	10	0.09338	T	0.73	-17.5316	7.2747	0.26277	0.2614:0.0:0.7386:0.0	.	687	P54802	ANAG_HUMAN	S	687;363	ENSP00000225927:A687S	ENSP00000225927:A687S	A	+	1	0	NAGLU	37949609	0.881000	0.30235	0.838000	0.33150	0.289000	0.27227	1.467000	0.35321	1.274000	0.44362	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	1	0	1	35	97	0	26	1	1	55	201	0	26	2		0	0	0	0	0	2	1	1	35	97	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSD17B1	3292	broad.mit.edu	37	17	40706547	40706547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40706547C>T	ENST00000585807.1	+	5	4384	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1			5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		Equilin(DB02187)	ATACCTCGCCCACAGCAAGCA	0.657000																								0							SO:0001583	missense			ENST00000585807.1	0	1	hg19	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522978	0.44866	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.02	3.02	0.34903	NAD(P)-binding domain (1);	0.244344	0.40469	N	0.001096	T	0.54431	0.1858	L	0.31371	0.925	0.36520	D	0.870089	D;B	0.76494	0.999;0.065	D;B	0.64506	0.926;0.018	T	0.59925	-0.7362	9	0.46703	T	0.11	.	9.1585	0.37007	0.0:0.7638:0.2362:0.0	.	253;222	B3RFR9;P14061	.;DHB1_HUMAN	Y	222	.	ENSP00000225929:H222Y	H	+	1	0	HSD17B1	37960073	0.079000	0.21365	0.014000	0.15608	0.003000	0.03518	0.645000	0.24782	0.858000	0.35431	0.491000	0.48974	CAC		TCGA-IB-7651-01A-11D-2154-08	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	0	0	0	5	191	0	21	0	3.560027e-01	1	41	0	21	2		0	0	0	0	0	2	1	9.366587e-01	5	189	0	21	2								-3.414625	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.340000	0.120000	1.000000	0.300000	0.414354	0.340000	0	2.100000e-01	5.800000e-01
TUBG1	7283	broad.mit.edu	37	17	40766320	40766320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40766320C>T	ENST00000251413.3	+	9	948	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1			12		Breast(137;0.00116)		Vinblastine(DB00570)	TGTCATGAGGCGGCTGCTGCA	0.622000													Colon(20;114 698 11420 22864)											0							SO:0001583	missense			ENST00000251413.3	0	1	hg19	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734503	0.30774	.	.	ENSG00000131462	ENST00000251413	D	0.85339	-1.97	4.38	-0.343	0.12632	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	H	0.97214	3.96	0.58432	D	0.999998	D	0.60575	0.988	P	0.50109	0.631	D	0.94041	0.7309	10	0.87932	D	0	-13.9457	15.5442	0.76081	0.6976:0.3024:0.0:0.0	.	296	P23258	TBG1_HUMAN	W	296	ENSP00000251413:R296W	ENSP00000251413:R296W	R	+	1	2	TUBG1	38019846	1.000000	0.71417	0.966000	0.40874	0.041000	0.13682	1.122000	0.31295	-0.163000	0.10946	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	0	0	0	8	359	0	82	1	7.836838e-01	4	127	0	82	2		0	0	0	0	0	2	1	9.866115e-01	8	337	0	98	2								-3.069436	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.280000	0.120000	1.000000	0.260000	0.355231	0.280000	0	1.900000e-01	4.400000e-01
PLEKHH3	79990	broad.mit.edu	37	17	40823517	40823517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40823517G>A	ENST00000591022.1	-	8	1523	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A379V|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A379V	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3			13		Breast(137;0.00116)			CCGGCCCAGCGCTTTCCGGAT	0.647000																								0							SO:0001583	missense			ENST00000591022.1	0	1	hg19	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.826876	0.96996	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.92149	-2.98;-2.98	4.7	4.7	0.59300	MyTH4 domain (2);	0.000000	0.42964	D	0.000634	D	0.95598	0.8569	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96001	0.8993	10	0.62326	D	0.03	-21.402	17.2756	0.87114	0.0:0.0:1.0:0.0	.	379;379	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	V	41;379;379	ENSP00000293349:A379V;ENSP00000411885:A379V	ENSP00000293349:A379V	A	-	2	0	PLEKHH3	38077043	1.000000	0.71417	0.859000	0.33776	0.972000	0.66771	9.813000	0.99286	2.166000	0.68216	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	1	0	0	7	160	0	22	0	6.330736e-01	1	47	0	22	2		0	0	0	0	0	2	1	9.791487e-01	7	155	0	21	2								-9.687661	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.540000	0.230000	1.000000	0.490000	0.589173	0.540000	0	3.600000e-01	8.400000e-01
CCR10	2826	broad.mit.edu	37	17	40831869	40831869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40831869C>A	ENST00000332438.4	-	2	810	c.791G>T	c.(790-792)aGc>aTc	p.S264I	CCR10_ENST00000591765.1_Missense_Mutation_p.S42I|PLEKHH3_ENST00000293349.6_5'Flank|PLEKHH3_ENST00000591022.1_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CNTNAP1_ENST00000264638.4_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10			3		Breast(137;0.000153)			CAGGGCGAGGCTGTAGGGCAG	0.721000																								0							SO:0001583	missense			ENST00000332438.4	1	1	hg19	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865068	0.71949	.	.	ENSG00000184451	ENST00000332438	T	0.37235	1.21	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000203	T	0.41305	0.1153	L	0.46157	1.445	0.31084	N	0.711548	P	0.47191	0.891	P	0.51266	0.664	T	0.50466	-0.8825	10	0.87932	D	0	.	10.7503	0.46205	0.0:0.6747:0.3253:0.0	.	264	P46092	CCR10_HUMAN	I	264	ENSP00000332504:S264I	ENSP00000332504:S264I	S	-	2	0	CCR10	38085395	0.637000	0.27216	1.000000	0.80357	0.986000	0.74619	0.690000	0.25451	2.192000	0.70111	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	1	0	0	19	92	0	14	0	4.856907e-01	0	9	0	14	2		0	0	0	0	0	2	1	9.999946e-01	19	91	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999833	0.990000	1	9.900000e-01	1
CNTNAP1	8506	broad.mit.edu	37	17	40837321	40837321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40837321G>A	ENST00000264638.4	+	5	815	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1			49		Breast(137;0.000143)			GGACGTGTTCGCCTTCAGCTT	0.642000																								0							SO:0001583	missense			ENST00000264638.4	1	1	hg19	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480734	0.63849	.	.	ENSG00000108797	ENST00000264638	T	0.78816	-1.21	5.11	4.11	0.48088	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.284951	0.29466	N	0.012079	T	0.62085	0.2399	L	0.29908	0.895	0.38646	D	0.951717	D	0.53312	0.959	B	0.38225	0.268	T	0.63001	-0.6734	10	0.34782	T	0.22	.	9.6221	0.39727	0.0:0.1434:0.6871:0.1696	.	200	P78357	CNTP1_HUMAN	T	200	ENSP00000264638:A200T	ENSP00000264638:A200T	A	+	1	0	CNTNAP1	38090847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.834000	0.55798	1.069000	0.40788	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	1	0	1	93	325	0	73	1	9.306601e-01	4	14	0	73	2		0	0	0	0	0	2	1	1	93	320	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKFY1	51479	broad.mit.edu	37	17	4085524	4085524	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4085524C>T	ENST00000341657.4	-	15	2108	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	ANKFY1_ENST00000574367.1_Silent_p.P692P|ANKFY1_ENST00000570535.1_Silent_p.P733P|ANKFY1_ENST00000573722.1_5'Flank|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1			32					CAAGCCACAGCGGGGGGTTCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000341657.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	1	0	1	148	586	1	133	1	9.999847e-01	14	72	1	133	4		0	0	0	0	0	2	1	1	143	577	0	130	2								-2.490663	0	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS25	84313	broad.mit.edu	37	17	40926673	40926673	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40926673C>A	ENST00000253794.2	+	3	249	c.209C>A	c.(208-210)cCt>cAt	p.P70H		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)			5		Breast(137;0.00104)			GGAAAGCTTCCTGTGGAGTCG	0.453000																								0							SO:0001583	missense			ENST00000253794.2	0	1	hg19	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789884	0.90367	.	.	ENSG00000131475	ENST00000253794	T	0.44881	0.91	4.92	4.92	0.64577	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.059687	0.64402	D	0.000001	T	0.58481	0.2125	M	0.74881	2.28	0.48830	D	0.999715	D	0.57571	0.98	P	0.53360	0.724	T	0.64597	-0.6370	10	0.66056	D	0.02	-6.362	18.2978	0.90153	0.0:1.0:0.0:0.0	.	70	Q9BRG1	VPS25_HUMAN	H	70	ENSP00000253794:P70H	ENSP00000253794:P70H	P	+	2	0	VPS25	38180199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.964000	0.76061	2.559000	0.86315	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	0	0	0	5	196	0	42	1	9.926411e-01	10	382	0	42	2		0	0	0	0	0	2	1	9.349848e-01	5	192	0	42	2								-3.024895	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.330000	0.120000	1.000000	0.290000	0.406720	0.330000	0	2.100000e-01	5.600000e-01
WNK4	65266	broad.mit.edu	37	17	40936549	40936549	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40936549G>A	ENST00000246914.5	+	4	1143	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4			35		Breast(137;0.000143)			CTGAGTACCCGTACTCCGAGT	0.582000													Esophageal Squamous(6;201 374 4964 23855 42828)											0							SO:0001819	synonymous_variant			ENST00000246914.5	1	1	hg19	CCDS11439.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	0	11	162	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	9.985043e-01	11	162	0	43	2								-14.671220	1	1	121412	1	15	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.790000	0.420000	1.000000	1.000000	0.791246	0.790000	0	5.800000e-01	1
WNK4	65266	broad.mit.edu	37	17	40939316	40939316	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40939316T>C	ENST00000246914.5	+	7	1518	c.1497T>C	c.(1495-1497)tgT>tgC	p.C499C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4			35		Breast(137;0.000143)			GCTTGGTCTGTGAAGCCGATT	0.577000													Esophageal Squamous(6;201 374 4964 23855 42828)											0							SO:0001819	synonymous_variant			ENST00000246914.5	1	1	hg19	CCDS11439.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	1	39	215	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	39	212	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
WNK4	65266	broad.mit.edu	37	17	40940387	40940387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40940387C>A	ENST00000246914.5	+	10	2023	c.2002C>A	c.(2002-2004)Ctc>Atc	p.L668I	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4			35		Breast(137;0.000143)			AGGGAGGAATCTCCGGCGCAG	0.567000													Esophageal Squamous(6;201 374 4964 23855 42828)											0							SO:0001583	missense			ENST00000246914.5	1	1	hg19	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368188	0.42003	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.26373	1.74	5.35	4.37	0.52481	.	0.324291	0.22432	N	0.060131	T	0.19927	0.0479	L	0.34521	1.04	0.30195	N	0.799179	B;B;B;B	0.27351	0.11;0.176;0.11;0.11	B;B;B;B	0.26202	0.046;0.067;0.016;0.03	T	0.09207	-1.0685	10	0.20046	T	0.44	-9.3155	14.022	0.64560	0.164:0.836:0.0:0.0	.	12;668;668;668	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	I	668;440;12	ENSP00000246914:L668I	ENSP00000246914:L668I	L	+	1	0	WNK4	38193913	0.214000	0.23563	0.998000	0.56505	0.947000	0.59692	2.077000	0.41557	1.217000	0.43442	-0.425000	0.05940	CTC		TCGA-IB-7651-01A-11D-2154-08	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	1	43	233	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	42	232	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
WNK4	65266	broad.mit.edu	37	17	40947651	40947651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40947651C>T	ENST00000246914.5	+	16	3052	c.3031C>T	c.(3031-3033)Ccg>Tcg	p.P1011S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4			35		Breast(137;0.000143)			AGAGGGAAAGCCGCAGCTTGT	0.557000													Esophageal Squamous(6;201 374 4964 23855 42828)											0							SO:0001583	missense			ENST00000246914.5	1	1	hg19	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489984	0.44249	.	.	ENSG00000126562	ENST00000246914	D	0.83075	-1.68	5.75	5.75	0.90469	.	0.000000	0.47455	D	0.000223	D	0.82277	0.5002	L	0.42245	1.32	0.80722	D	1	P;P	0.51537	0.946;0.787	P;B	0.46253	0.509;0.158	D	0.84168	0.0432	10	0.66056	D	0.02	-22.9051	18.1118	0.89538	0.0:1.0:0.0:0.0	.	1011;1011	Q96J92-3;Q96J92	.;WNK4_HUMAN	S	1011	ENSP00000246914:P1011S	ENSP00000246914:P1011S	P	+	1	0	WNK4	38201177	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.574000	0.46016	2.720000	0.93068	0.491000	0.48974	CCG		TCGA-IB-7651-01A-11D-2154-08	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	1	73	330	0	81	0	3.375296e-02	0	2	0	81	2		0	0	0	0	0	2	1	1	71	323	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTD1	124817	broad.mit.edu	37	17	40951182	40951182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40951182G>T	ENST00000588408.1	+	1	373	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1			10		Breast(137;0.00104)			GCTTCACTTGGCCCAGCAGAA	0.632000																								0							SO:0001583	missense			ENST00000588408.1	1	1	hg19	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890450	0.52014	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.04	5.04	0.67666	Cyclin-like (1);	0.254806	0.39146	N	0.001455	T	0.58552	0.2130	M	0.61703	1.905	0.80722	D	1	B	0.26876	0.162	B	0.18871	0.023	T	0.57219	-0.7849	9	0.37606	T	0.19	-2.1701	15.0029	0.71489	0.0:0.0:0.8574:0.1426	.	33	Q8N815	CNTD1_HUMAN	S	33	.	ENSP00000316647:A33S	A	+	1	0	CNTD1	38204708	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.244000	0.58728	2.629000	0.89072	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	1	0	1	48	226	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	1	48	224	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTD1	124817	broad.mit.edu	37	17	40958824	40958824	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40958824G>A	ENST00000588408.1	+	5	989	c.713G>A	c.(712-714)aGt>aAt	p.S238N	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Missense_Mutation_p.S155N	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1			10		Breast(137;0.00104)			TCCACTCCCAGTCAGCTGCAA	0.517000																								0							SO:0001583	missense			ENST00000588408.1	1	1	hg19	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598277	0.66332	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.49	4.44	0.53790	.	0.202434	0.53938	D	0.000060	T	0.44891	0.1315	M	0.61703	1.905	0.26487	N	0.97502	P	0.47106	0.89	P	0.45232	0.474	T	0.48198	-0.9056	9	0.59425	D	0.04	-10.6058	12.565	0.56304	0.0:0.1175:0.7473:0.1352	.	238	Q8N815	CNTD1_HUMAN	N	238	.	ENSP00000316647:S238N	S	+	2	0	CNTD1	38212350	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.207000	0.32333	2.568000	0.86640	0.557000	0.71058	AGT		TCGA-IB-7651-01A-11D-2154-08	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	1	0	1	49	215	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	47	214	0	56	2								-20.000000	1	1	121412	1	26	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AOC2	314	broad.mit.edu	37	17	40997013	40997013	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40997013G>A	ENST00000253799.3	+	1	397	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)			30		Breast(137;0.000143)			ACTGGCCATCGTCCTCTTTGG	0.667000																								0							SO:0001583	missense			ENST00000253799.3	1	1	hg19	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.090357	0.01873	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.35789	1.29;1.29	5.01	2.57	0.30868	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.221172	0.37136	N	0.002238	T	0.14184	0.0343	N	0.05510	-0.035	0.40249	D	0.978047	B;B	0.28820	0.076;0.224	B;B	0.23574	0.03;0.047	T	0.09907	-1.0653	10	0.10902	T	0.67	-53.025	6.7767	0.23624	0.2025:0.1471:0.6504:0.0	.	124;124	O75106;O75106-2	AOC2_HUMAN;.	I	124	ENSP00000253799:V124I;ENSP00000406134:V124I	ENSP00000253799:V124I	V	+	1	0	AOC2	38250539	1.000000	0.71417	0.996000	0.52242	0.041000	0.13682	1.953000	0.40352	0.448000	0.26722	-0.253000	0.11424	GTC		TCGA-IB-7651-01A-11D-2154-08	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	1	0	1	86	299	0	55	0	5.098697e-02	0	2	0	55	2		0	0	0	0	0	2	1	1	83	291	0	55	2								-20.000000	1	1	121398	1	34	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AOC3	8639	broad.mit.edu	37	17	41004414	41004414	+	Missense_Mutation	SNP	G	G	A	rs150410758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004414G>A	ENST00000308423.2	+	1	1214	c.1054G>A	c.(1054-1056)Gtt>Att	p.V352I	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3			41		Breast(137;0.000143)		Hydralazine(DB01275)|Phenelzine(DB00780)	GATCTTTGACGTTCGCTTCCA	0.542000													NSCLC(3;192 220 10664 11501 16477)											0							SO:0001583	missense			ENST00000308423.2	1	1	hg19	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	3.352	-0.132261	0.06753	6.81E-4	0.0	ENSG00000131471	ENST00000308423	T	0.04360	3.64	4.4	-1.33	0.09172	Copper amine oxidase, C-terminal (3);	0.348573	0.27896	N	0.017406	T	0.01523	0.0049	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49934	-0.8886	10	0.06757	T	0.87	.	5.6195	0.17450	0.5422:0.1375:0.3203:0.0	.	352	Q16853	AOC3_HUMAN	I	352	ENSP00000312326:V352I	ENSP00000312326:V352I	V	+	1	0	AOC3	38257940	0.307000	0.24500	0.895000	0.35142	0.774000	0.43823	0.083000	0.14871	-0.216000	0.10048	0.591000	0.81541	GTT		TCGA-IB-7651-01A-11D-2154-08	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	1	0	1	69	301	0	77	0	1	0	171	0	77	2		0	0	0	0	0	2	1	1	69	297	0	78	2								-3.705479	1	1	121412	36	47	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AOC3	8639	broad.mit.edu	37	17	41004951	41004951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004951G>A	ENST00000308423.2	+	1	1751	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3			41		Breast(137;0.000143)		Hydralazine(DB01275)|Phenelzine(DB00780)	GGTGGATCTGGATGTAGCAGG	0.502000													NSCLC(3;192 220 10664 11501 16477)											0							SO:0001583	missense			ENST00000308423.2	1	1	hg19	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042693	0.75732	.	.	ENSG00000131471	ENST00000308423	T	0.04502	3.61	5.26	5.26	0.73747	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43278	-0.9401	10	0.49607	T	0.09	.	19.2423	0.93888	0.0:0.0:1.0:0.0	.	531	Q16853	AOC3_HUMAN	N	531	ENSP00000312326:D531N	ENSP00000312326:D531N	D	+	1	0	AOC3	38258477	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	9.821000	0.99360	2.638000	0.89438	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	1	0	1	48	196	0	57	0	1	0	179	0	57	2		0	0	0	0	0	2	1	1	48	189	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AARSD1	80755	broad.mit.edu	37	17	41116151	41116151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41116151G>A	ENST00000427569.2	-	2	178	c.143C>T	c.(142-144)aCa>aTa	p.T48I	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.T222I|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.T131I|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.T161I|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.T222I|AARSD1_ENST00000416949.1_5'UTR	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1			17		Breast(137;0.00499)			GAAAAGCACTGTGTCTTCCAG	0.582000																								0							SO:0001583	missense			ENST00000427569.2	1	0	hg19	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.126002|5.126002	0.94429|0.94429	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|D;D;D;D;D	.|0.88586	.|-2.4;-2.4;-2.4;-2.4;-2.4	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	.|0.064498	.|0.64402	.|D	.|0.000008	.|D	.|0.96895	.|0.8986	H|H	0.98682|0.98682	4.3|4.3	.|.	.|.	.|.	.|D;D;D;D;D	.|0.89917	.|0.996;0.998;0.998;0.998;1.0	.|D;D;D;D;D	.|0.81914	.|0.943;0.984;0.984;0.979;0.995	.|D	.|0.98556	.|1.0639	.|9	.|0.87932	.|D	.|0	-15.2197|-15.2197	17.5942|17.5942	0.88006|0.88006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|161;222;131;179;48	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	X|I	54|161;222;222;48;131	.|ENSP00000353355:T161I;ENSP00000386621:T222I;ENSP00000409924:T222I;ENSP00000400870:T48I;ENSP00000386254:T131I	.|ENSP00000353355:T161I	Q|T	-|-	1|2	0|0	AARSD1|AARSD1	38369677|38369677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	8.878000|8.878000	0.92393|0.92393	2.497000|2.497000	0.84241|0.84241	0.442000|0.442000	0.29010|0.29010	CAG|ACA		TCGA-IB-7651-01A-11D-2154-08	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	0	0	1	87	371	0	102	1	9.999998e-01	32	65	0	102	2		0	0	0	0	0	2	1	1	85	360	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RUNDC1	146923	broad.mit.edu	37	17	41141438	41141438	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41141438T>C	ENST00000361677.1	+	3	750	c.738T>C	c.(736-738)cgT>cgC	p.R246R		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1			8		Breast(137;0.00499)			AAGAGCTTCGTCAGCGTGTAG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000361677.1	0	1	hg19	CCDS11448.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	0	0	0	7	289	0	66	1	6.024751e-01	2	78	0	66	2		0	0	0	0	0	2	1	9.802306e-01	7	286	0	66	2								-3.396486	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.310000	0.130000	1.000000	0.280000	0.380400	0.310000	0	2.000000e-01	4.900000e-01
RUNDC1	146923	broad.mit.edu	37	17	41143294	41143294	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41143294A>T	ENST00000361677.1	+	5	1415	c.1403A>T	c.(1402-1404)gAg>gTg	p.E468V		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1			8		Breast(137;0.00499)			TCGGCCCCAGAGGCCATGCAC	0.587000																								0							SO:0001583	missense			ENST00000361677.1	0	1	hg19	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879132	0.33162	.	.	ENSG00000198863	ENST00000361677	T	0.18502	2.21	4.92	4.92	0.64577	RUN (2);	0.266944	0.37955	N	0.001880	T	0.06645	0.0170	N	0.08118	0	0.37927	D	0.931873	P	0.38677	0.642	B	0.25614	0.062	T	0.37911	-0.9685	10	0.32370	T	0.25	-24.4041	9.4733	0.38856	0.9171:0.0:0.0829:0.0	.	468	Q96C34	RUND1_HUMAN	V	468	ENSP00000354622:E468V	ENSP00000354622:E468V	E	+	2	0	RUNDC1	38396820	1.000000	0.71417	0.974000	0.42286	0.954000	0.61252	3.290000	0.51755	2.062000	0.61559	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	0	0	0	10	363	0	60	1	7.312202e-01	2	92	0	60	2		0	0	0	0	0	2	1	9.963307e-01	10	349	0	60	2								-3.467327	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.340000	0.170000	1.000000	0.320000	0.407700	0.340000	0	2.400000e-01	5.100000e-01
VAT1	10493	broad.mit.edu	37	17	41169881	41169881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41169881G>T	ENST00000420567.3	-	4	576	c.431C>A	c.(430-432)cCc>cAc	p.P144H	VAT1_ENST00000587173.1_Missense_Mutation_p.P210H|VAT1_ENST00000355653.3_Missense_Mutation_p.P278H			P54219	VMAT1_HUMAN	vesicle amine transport 1			9		Breast(137;0.000717)		Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TTTGCCCATGGGTTTCAGGAG	0.547000																								0							SO:0001583	missense			ENST00000420567.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.0	4.588434	0.86851	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.04706	3.57;3.57	5.38	5.38	0.77491	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.050173	0.85682	D	0.000000	T	0.24661	0.0598	M	0.84585	2.705	0.80722	D	1	D;D	0.56746	0.977;0.976	P;D	0.66979	0.679;0.948	T	0.01692	-1.1294	10	0.30854	T	0.27	-4.7138	19.1326	0.93413	0.0:0.0:1.0:0.0	.	210;278	B4DPX4;Q99536	.;VAT1_HUMAN	H	278;185;144	ENSP00000347872:P278H;ENSP00000408553:P144H	ENSP00000347872:P278H	P	-	2	0	VAT1	38423407	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.848000	0.99507	2.515000	0.84797	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453104.1	1	0	1	45	226	0	61	1	1	114	552	0	61	2		0	0	0	0	0	2	1	1	42	217	0	61	2								-3.115012	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRCA1	672	broad.mit.edu	37	17	41223162	41223162	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41223162A>G	ENST00000357654.3	-	15	4887	c.4769T>C	c.(4768-4770)gTt>gCt	p.V1590A	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A|BRCA1_ENST00000309486.4_Missense_Mutation_p.V1294A|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset			120		Breast(137;0.000717)			TATGTTGCCAACACGAGCTGA	0.488000			D, Mis, N, F, S		ovarian	breast, ovarian		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0							SO:0001583	missense	Familial Cancer Database		ENST00000357654.3	1	1	hg19	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	A	9.385	1.073954	0.20147	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.91407	-2.46;-2.52;-2.58;-2.36;-2.62;-2.84;-2.58;-2.43;-2.35;-2.58	4.56	2.26	0.28386	.	0.779810	0.11235	N	0.585222	T	0.81173	0.4767	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B;B;B;B	0.29612	0.001;0.103;0.001;0.251;0.001;0.001;0.0;0.003	B;B;B;B;B;B;B;B	0.24269	0.003;0.031;0.003;0.052;0.003;0.003;0.001;0.008	T	0.70200	-0.4937	10	0.54805	T	0.06	.	4.7124	0.12879	0.7079:0.1919:0.1003:0.0	.	486;439;485;487;486;1612;1590;1590	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	A	1590;1611;448;407;1294;486;439;1612;1543;485;486;361;440	ENSP00000350283:V1590A;ENSP00000312236:V448A;ENSP00000338007:V407A;ENSP00000310938:V1294A;ENSP00000417148:V486A;ENSP00000377294:V439A;ENSP00000418775:V1543A;ENSP00000420412:V486A;ENSP00000419481:V361A;ENSP00000418819:V440A	ENSP00000310938:V1294A	V	-	2	0	BRCA1	38476688	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.225000	0.17757	0.331000	0.23511	-0.411000	0.06167	GTT		TCGA-IB-7651-01A-11D-2154-08	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	1	0	1	124	618	0	167	1	7.411133e-01	4	11	0	167	2	1	1	177	855	0	1015	2	1	1	123	610	0	165	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRCA1	672	broad.mit.edu	37	17	41246608	41246608	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41246608C>T	ENST00000357654.3	-	10	1058	c.940G>A	c.(940-942)Gca>Aca	p.A314T	BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T|BRCA1_ENST00000309486.4_Missense_Mutation_p.A18T|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000491747.2_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset			120		Breast(137;0.000717)			TGGCTCCTTGCTAAGCCAGGC	0.418000			D, Mis, N, F, S		ovarian	breast, ovarian		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0							SO:0001583	missense	Familial Cancer Database		ENST00000357654.3	1	1	hg19	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689207	0.68271	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	D;D;D;D;D;D;D;D;D;D	0.97710	-2.52;-2.64;-2.62;-3.02;-2.53;-2.64;-3.05;-4.5;-3.2;-2.74	4.73	3.75	0.43078	.	0.110360	0.41097	D	0.000942	D	0.97945	0.9324	M	0.88310	2.945	0.32100	N	0.59068	D;D;P;P;P;P	0.53619	0.961;0.961;0.931;0.762;0.864;0.659	P;P;P;P;P;P	0.49332	0.541;0.541;0.566;0.542;0.521;0.607	D	0.98633	1.0672	10	0.66056	D	0.02	.	13.7087	0.62654	0.0:0.8457:0.1543:0.0	.	314;273;314;314;314;314	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	T	314;314;314;314;18;314;267;314;288;18;314	ENSP00000350283:A314T;ENSP00000326002:A314T;ENSP00000246907:A314T;ENSP00000310938:A18T;ENSP00000418960:A314T;ENSP00000418775:A267T;ENSP00000419274:A314T;ENSP00000419988:A288T;ENSP00000418986:A18T;ENSP00000419103:A314T	ENSP00000310938:A18T	A	-	1	0	BRCA1	38500134	0.012000	0.17670	1.000000	0.80357	0.986000	0.74619	0.149000	0.16243	1.338000	0.45544	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	1	0	1	109	527	0	116	1	4.754767e-01	3	6	0	116	2	1	1	151	837	0	840	2	1	1	109	519	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARL4D	379	broad.mit.edu	37	17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477126C>T	ENST00000320033.4	+	2	233	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D			8		Breast(137;0.00908)			ACTGAGATGGCGCCCACTGCC	0.572000																								0							SO:0001583	missense			ENST00000320033.4	1	1	hg19	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892269	0.52014	.	.	ENSG00000175906	ENST00000320033	T	0.75367	-0.93	4.82	4.82	0.62117	.	0.137736	0.48286	D	0.000187	T	0.62684	0.2448	L	0.52266	1.64	0.58432	D	0.999994	P	0.47253	0.892	B	0.29663	0.105	T	0.67546	-0.5643	10	0.35671	T	0.21	-10.645	15.2659	0.73660	0.0:1.0:0.0:0.0	.	9	P49703	ARL4D_HUMAN	V	9	ENSP00000322628:A9V	ENSP00000322628:A9V	A	+	2	0	ARL4D	38832652	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.008000	0.63991	2.643000	0.89663	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	1	0	1	86	288	0	55	1	9.961547e-01	3	28	0	55	2		0	0	0	0	0	2	1	1	84	281	0	53	2								-4.293205	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARL4D	379	broad.mit.edu	37	17	41477547	41477547	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477547G>T	ENST00000320033.4	+	2	654	c.447G>T	c.(445-447)gaG>gaT	p.E149D		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D			8		Breast(137;0.00908)			CTGAGGTGGAGAAGAGGCTGG	0.672000																								0							SO:0001583	missense			ENST00000320033.4	0	1	hg19	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971464	0.74246	.	.	ENSG00000175906	ENST00000320033	T	0.64085	-0.08	4.82	2.84	0.33178	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.78285	2.405	0.49299	D	0.999775	D	0.69078	0.997	D	0.72338	0.977	T	0.74244	-0.3728	10	0.72032	D	0.01	-7.8562	7.6798	0.28507	0.2572:0.0:0.7428:0.0	.	149	P49703	ARL4D_HUMAN	D	149	ENSP00000322628:E149D	ENSP00000322628:E149D	E	+	3	2	ARL4D	38833073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.576000	0.67437	0.638000	0.30545	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	1	0	0	24	75	0	9	1	9.799504e-01	3	20	0	9	2		0	0	0	0	0	2	1	9.999999e-01	24	72	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DHX8	1659	broad.mit.edu	37	17	41585306	41585306	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41585306C>T	ENST00000262415.3	+	15	2311	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	DHX8_ENST00000540306.1_Silent_p.L747L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8			42		Breast(137;0.00908)			AGTGGAAATACTGTACACAAA	0.428000													NSCLC(56;1548 1661 49258 49987)											0							SO:0001819	synonymous_variant			ENST00000262415.3	1	1	hg19	CCDS11464.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1	1	0	0	106	465	0	84	1	9.999975e-01	8	74	0	84	2		0	0	0	0	0	2	1	1	106	460	0	84	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX8	1659	broad.mit.edu	37	17	41599414	41599414	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41599414G>T	ENST00000262415.3	+	22	3335		c.e22-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8			42		Breast(137;0.00908)			TATCTTGATAGACACAAGCTG	0.498000													NSCLC(56;1548 1661 49258 49987)											0							SO:0001630	splice_region_variant			ENST00000262415.3	1	1	hg19	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662375	0.88251	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7186	0.91685	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX8	38954940	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.992000	0.88273	2.735000	0.93741	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1	1	0	1	160	814	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	157	805	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ETV4	2118	broad.mit.edu	37	17	41607026	41607026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41607026C>T	ENST00000319349.5	-	11	1272	c.974G>A	c.(973-975)gGg>gAg	p.G325E	ETV4_ENST00000591713.1_Missense_Mutation_p.G325E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000545954.1_Missense_Mutation_p.G286E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000545089.1_Missense_Mutation_p.G271E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	3		Breast(137;0.00908)			TGCACCGACCCCTTCCTGCTT	0.597000			T	EWSR1, TMPRSS2, DDX5, KLK2, CANT1	Ewing sarcoma, Prostate carcinoma								Esophageal Squamous(116;1540 1611 12927 31103 34118)		Dom	yes		17	17q21	2118	ets variant gene 4 (E1A enhancer binding protein, E1AF)		M, E	0							SO:0001583	missense			ENST00000319349.5	1	1	hg19	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429589	0.62844	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.08282	3.12;3.12;3.11;3.11;3.11	6.04	6.04	0.98038	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.094180	0.64402	D	0.000001	T	0.24661	0.0598	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.992;0.984;1.0	D;P;D	0.97110	0.944;0.825;1.0	T	0.00020	-1.2356	10	0.44086	T	0.13	.	15.1851	0.72993	0.1402:0.8598:0.0:0.0	.	271;286;325	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	E	325;325;286;286;271	ENSP00000321835:G325E;ENSP00000377273:G325E;ENSP00000443846:G286E;ENSP00000440023:G286E;ENSP00000441749:G271E	ENSP00000321835:G325E	G	-	2	0	ETV4	38962552	0.980000	0.34600	0.993000	0.49108	0.233000	0.25261	2.540000	0.45727	2.873000	0.98535	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	0	0	1	21	617	0	128	1	9.264561e-01	15	117	0	128	2		0	0	0	0	0	2	1	9.999966e-01	21	598	0	125	2								-2.740661	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.400000	0.250000	1.000000	0.390000	0.463045	0.400000	0	3.200000e-01	5.400000e-01
MEOX1	4222	broad.mit.edu	37	17	41720868	41720868	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41720868G>T	ENST00000318579.4	-	2	1049	c.630C>A	c.(628-630)ctC>ctA	p.L210L	MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Silent_p.L95L	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1			8		Breast(137;0.00908)			GGCGCTCAGAGAGGTCCAGGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000318579.4	0	1	hg19	CCDS11466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1	0	0	0	5	40	0	9	0	8.245170e-01	0	28	0	9	2		0	0	0	0	0	2	1	9.413106e-01	5	40	0	9	2								-10.827320	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.530000	1.000000	1.000000	0.946131	0.990000	1	8.700000e-01	1
MEOX1	4222	broad.mit.edu	37	17	41738457	41738457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41738457G>A	ENST00000318579.4	-	1	865	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1			8		Breast(137;0.00908)			TCTCCGCCTGGATGATTTCTT	0.577000																								0							SO:0001583	missense			ENST00000318579.4	1	1	hg19	CCDS11466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748940|2.748940	0.49257|0.49257	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000549132|ENST00000318579;ENST00000329168;ENST00000393661	.|D;T;D	.|0.91996	.|-2.95;0.42;-2.91	4.99|4.99	2.95|2.95	0.34219|0.34219	.|.	.|0.711794	.|0.14610	.|N	.|0.309064	D|D	0.91071|0.91071	0.7190|0.7190	L|L	0.42245|0.42245	1.32|1.32	0.39430|0.39430	D|D	0.967062|0.967062	.|P;P	.|0.46220	.|0.874;0.523	.|P;B	.|0.51355	.|0.667;0.429	D|D	0.89161|0.89161	0.3530|0.3530	6|10	0.87932|0.72032	D|D	0|0.01	-11.643|-11.643	9.0032|9.0032	0.36094|0.36094	0.0785:0.147:0.7746:0.0|0.0785:0.147:0.7746:0.0	.|.	.|149;149	.|Q15069;P50221	.|.;MEOX1_HUMAN	S|F	120|149;149;34	.|ENSP00000321684:S149F;ENSP00000328678:S149F;ENSP00000377271:S34F	ENSP00000449049:P120S|ENSP00000321684:S149F	P|S	-|-	1|2	0|0	MEOX1|MEOX1	39093983|39093983	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	2.401000|2.401000	0.44513|0.44513	0.666000|0.666000	0.31087|0.31087	0.655000|0.655000	0.94253|0.94253	CCA|TCC		TCGA-IB-7651-01A-11D-2154-08	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1	1	0	1	224	1077	0	233	0	8.813386e-01	0	20	0	233	2		0	0	0	0	0	2	1	1	221	1060	0	232	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPP2	4355	broad.mit.edu	37	17	41958122	41958122	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41958122G>A	ENST00000461854.1	-	11	1244	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000377184.3_Missense_Mutation_p.R380W|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000269095.4_Missense_Mutation_p.R363W|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W|MPP2_ENST00000518766.1_Missense_Mutation_p.R408W			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)			29		Breast(137;0.00314)			AGGCTGCGCCGTCCCACGCCC	0.607000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000461854.1	1	1	hg19		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.8	4.566265	0.86439	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.02	5.02	0.67125	.	.	.	.	.	T	0.55768	0.1941	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66484	-0.5912	9	0.87932	D	0	.	11.3615	0.49646	0.0:0.0:0.8187:0.1813	.	408;380	E7EV80;Q14168-3	.;.	W	380;363;387;224;352;352;408	ENSP00000366389:R380W;ENSP00000269095:R363W;ENSP00000428286:R387W;ENSP00000428136:R224W;ENSP00000430540:R352W;ENSP00000438012:R352W;ENSP00000428182:R408W	ENSP00000269095:R363W	R	-	1	2	MPP2	39313648	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.519000	0.73768	2.511000	0.84671	0.485000	0.47835	CGG		TCGA-IB-7651-01A-11D-2154-08	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	1	0	1	93	390	0	90	0	3.295163e-01	0	6	0	90	2		0	0	0	0	0	2	1	1	93	384	0	90	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM101	84336	broad.mit.edu	37	17	42090467	42090467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42090467G>A	ENST00000589334.1	-	4	690	c.375C>T	c.(373-375)agC>agT	p.S125S	TMEM101_ENST00000206380.3_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S|TMEM101_ENST00000587529.1_Silent_p.S125S			Q96IK0	TM101_HUMAN	transmembrane protein 101			7		Breast(137;0.0264)|Prostate(33;0.0861)			CCCCAGCACCGCTGGCCAACA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000589334.1	1	1	hg19	CCDS11474.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	1	0	1	45	177	0	36	1	1	55	125	0	36	2		0	0	0	0	0	2	1	1	43	170	0	35	2								-20.000000	1	1	121380	4	32	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
G6PC3	92579	broad.mit.edu	37	17	42153230	42153230	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42153230T>G	ENST00000269097.4	+	6	1091	c.860T>G	c.(859-861)cTt>cGt	p.L287R		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3			11		Breast(137;0.00637)|Prostate(33;0.0313)			ATAGCCTGCCTTGTGCTGGCC	0.622000																								0							SO:0001583	missense			ENST00000269097.4	1	1	hg19	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668251	0.47677	.	.	ENSG00000141349	ENST00000269097	T	0.79454	-1.27	5.18	5.18	0.71444	.	0.411941	0.23644	N	0.045981	T	0.66538	0.2799	L	0.39898	1.24	0.09310	N	0.999999	P	0.37955	0.612	B	0.34722	0.188	T	0.64888	-0.6301	10	0.66056	D	0.02	-35.6274	7.593	0.28031	0.0:0.0926:0.0:0.9074	.	287	Q9BUM1	G6PC3_HUMAN	R	287	ENSP00000269097:L287R	ENSP00000269097:L287R	L	+	2	0	G6PC3	39508756	0.992000	0.36948	0.417000	0.26559	0.684000	0.39900	4.629000	0.61290	2.181000	0.69327	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	1	0	1	98	415	0	92	1	1	81	190	0	92	2		0	0	0	0	0	2	1	1	97	409	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDAC5	10014	broad.mit.edu	37	17	42161219	42161219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42161219G>A	ENST00000393622.2	-	17	2640	c.2309C>T	c.(2308-2310)cCc>cTc	p.P770L	HDAC5_ENST00000225983.6_Missense_Mutation_p.P771L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5			21		Breast(137;0.00637)|Prostate(33;0.0313)			CTGGCTGATGGGGCCTGCATG	0.597000																								0							SO:0001583	missense			ENST00000393622.2	1	1	hg19	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657976	0.47467	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.69561	-0.41;-0.41;1.21	5.0	5.0	0.66597	Histone deacetylase domain (2);	0.229124	0.36134	N	0.002771	T	0.56572	0.1994	N	0.01817	-0.705	0.80722	D	1	D;B;B;B	0.63046	0.992;0.0;0.0;0.0	P;B;B;B	0.59643	0.861;0.012;0.003;0.004	T	0.65088	-0.6253	10	0.27785	T	0.31	-17.6981	17.2411	0.87013	0.0:0.0:1.0:0.0	.	685;770;771;770	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	L	771;770;685	ENSP00000225983:P771L;ENSP00000377244:P770L;ENSP00000337290:P685L	ENSP00000225983:P771L	P	-	2	0	HDAC5	39516745	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.382000	0.66213	2.607000	0.88179	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	1	0	1	76	315	0	67	1	1	34	120	0	67	2		0	0	0	0	0	2	1	1	74	310	0	67	2								-3.450928	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMUB2	79089	broad.mit.edu	37	17	42266863	42266863	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42266863G>A	ENST00000587989.1	+	3	662	c.509G>A	c.(508-510)aGc>aAc	p.S170N	TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N|TMUB2_ENST00000319511.6_Missense_Mutation_p.S150N|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000592825.1_Intron|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N|TMUB2_ENST00000589184.1_Intron|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|ASB16-AS1_ENST00000585457.1_RNA			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2			8		Breast(137;0.00765)|Prostate(33;0.0181)			CTCCCTCCCAGCCCTGGCCTC	0.602000																								0							SO:0001583	missense			ENST00000587989.1	1	1	hg19	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752706	0.15778	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.64	3.43	0.39272	.	0.509177	0.22384	N	0.060766	T	0.23410	0.0566	N	0.16478	0.41	0.09310	N	0.999993	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.07065	-1.0792	10	0.31617	T	0.26	-6.288	7.3111	0.26475	0.1962:0.0:0.8038:0.0	.	113;150;170	E7ESS3;Q71RG4-3;Q71RG4	.;.;TMUB2_HUMAN	N	113;150;170;150	ENSP00000413127:S113N;ENSP00000350672:S150N;ENSP00000444565:S170N;ENSP00000313214:S150N	ENSP00000313214:S150N	S	+	2	0	TMUB2	39622389	0.579000	0.26725	0.836000	0.33094	0.850000	0.48378	2.586000	0.46119	2.128000	0.65567	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	0	0	1	41	316	0	79	1	1	33	195	0	79	2		0	0	0	0	0	2	1	1	41	312	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.998810	0.990000	1	9.900000e-01	1
ATXN7L3	56970	broad.mit.edu	37	17	42273420	42273420	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273420A>G	ENST00000454077.2	-	6	525	c.526T>C	c.(526-528)Tca>Cca	p.S176P	CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.S169P	NM_020218.1	NP_064603.1			ataxin 7-like 3			12		Breast(137;0.00765)|Prostate(33;0.0181)			TGTTTTAATGACTTGGATCTT	0.537000																								0							SO:0001583	missense			ENST00000454077.2	1	1	hg19	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595838	0.66332	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	.	0.064498	0.64402	D	0.000005	T	0.58177	0.2104	L	0.36672	1.1	0.58432	D	0.999994	B;D	0.54964	0.005;0.969	B;P	0.52424	0.006;0.698	T	0.59490	-0.7445	9	0.45353	T	0.12	.	13.6304	0.62191	1.0:0.0:0.0:0.0	.	169;176	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	P	176;169	.	ENSP00000374035:S169P	S	-	1	0	ATXN7L3	39628946	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.799000	0.75160	1.858000	0.53909	0.454000	0.30748	TCA		TCGA-IB-7651-01A-11D-2154-08	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1	1	0	1	54	302	0	94	1	1	58	157	0	94	2		0	0	0	0	0	2	1	1	54	296	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATXN7L3	56970	broad.mit.edu	37	17	42273431	42273431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273431C>T	ENST00000454077.2	-	6	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R165Q	NM_020218.1	NP_064603.1			ataxin 7-like 3			12		Breast(137;0.00765)|Prostate(33;0.0181)			CTTGGATCTTCGAGGGGAATT	0.498000																								0							SO:0001583	missense			ENST00000454077.2	1	1	hg19	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095123	0.76870	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.75484	0.788;0.986	T	0.76932	-0.2776	9	0.54805	T	0.06	.	16.9903	0.86352	0.0:1.0:0.0:0.0	.	165;172	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	172;165	.	ENSP00000374035:R165Q	R	-	2	0	ATXN7L3	39628957	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.202000	0.77856	2.290000	0.77057	0.556000	0.70494	CGA		TCGA-IB-7651-01A-11D-2154-08	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1	1	0	0	73	308	0	95	1	1	64	197	0	95	2		0	0	0	0	0	2	1	1	73	302	0	95	2								-3.415370	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBTF	7343	broad.mit.edu	37	17	42287719	42287719	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42287719C>A	ENST00000302904.4	-	14	1974	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H|UBTF_ENST00000393606.3_Missense_Mutation_p.Q457H|UBTF_ENST00000343638.5_Missense_Mutation_p.Q457H			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I			29		Breast(137;0.00765)|Prostate(33;0.0181)			CGATAACGCTCTGTTGCCAGA	0.652000											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000302904.4	0	1	hg19	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	15.89	2.965453	0.53507	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;T	0.98221	-4.76;-4.03;-4.8;-4.76;-4.03;-4.76;-4.76;-4.03;1.93	4.61	3.59	0.41128	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	N	0.19112	0.55	0.53688	D	0.999979	P;D;B	0.71674	0.476;0.998;0.379	B;D;B	0.65233	0.086;0.933;0.162	D	0.95584	0.8649	10	0.56958	D	0.05	-35.517	9.1917	0.37204	0.0:0.7686:0.1485:0.0829	.	457;457;494	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	H	457;494;457;457;494;457;457;494;81	ENSP00000345297:Q457H;ENSP00000302640:Q494H;ENSP00000431539:Q457H;ENSP00000437180:Q457H;ENSP00000390669:Q494H;ENSP00000377231:Q457H;ENSP00000432925:Q457H;ENSP00000435708:Q494H;ENSP00000431295:Q81H	ENSP00000302640:Q494H	Q	-	3	2	UBTF	39643245	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.868000	0.56055	2.392000	0.81423	0.467000	0.42956	CAG		TCGA-IB-7651-01A-11D-2154-08	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	0	0	0	13	553	0	141	1	8.788138e-01	3	158	0	141	2		0	0	0	0	0	2	1	9.995003e-01	13	546	0	137	2								-2.820222	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.280000	0.150000	1.000000	0.270000	0.359126	0.280000	0	2.100000e-01	4.100000e-01
UBTF	7343	broad.mit.edu	37	17	42295570	42295570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42295570C>T	ENST00000302904.4	-	2	520	c.28G>A	c.(28-30)Gac>Aac	p.D10N	UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000436088.1_Missense_Mutation_p.D10N|UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000343638.5_Missense_Mutation_p.D10N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I			29		Breast(137;0.00765)|Prostate(33;0.0181)			ATTTCCAGGTCTGTGGGGCAG	0.652000											OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000302904.4	1	1	hg19	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.150388	0.57151	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;T	0.98419	-4.8;-4.06;-4.92;-4.8;-4.06;-4.8;-4.8;-4.06;0.87	4.41	4.41	0.53225	.	0.401718	0.20201	U	0.097092	D	0.94588	0.8256	N	0.24115	0.695	0.26591	N	0.973195	B;B;B	0.29716	0.167;0.003;0.255	B;B;B	0.26614	0.045;0.003;0.071	D	0.90894	0.4763	10	0.66056	D	0.02	-26.5052	10.4813	0.44695	0.0:0.9094:0.0:0.0906	.	10;10;10	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	N	10	ENSP00000345297:D10N;ENSP00000302640:D10N;ENSP00000431539:D10N;ENSP00000437180:D10N;ENSP00000390669:D10N;ENSP00000377231:D10N;ENSP00000432925:D10N;ENSP00000435708:D10N;ENSP00000433046:D10N	ENSP00000302640:D10N	D	-	1	0	UBTF	39651096	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.537000	0.45702	2.301000	0.77427	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	1	0	1	101	530	0	105	1	1	20	109	0	105	2		0	0	0	0	0	2	1	1	98	517	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A39	51629	broad.mit.edu	37	17	42398522	42398522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398522G>T	ENST00000377095.5	-	8	714	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	SLC25A39_ENST00000225308.8_Missense_Mutation_p.L191M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39			7		Prostate(33;0.0233)			CAGGCACCCAGCTCCCGGTAC	0.632000																								0							SO:0001583	missense			ENST00000377095.5	1	1	hg19	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974157	0.18736	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80033	-1.33;-1.33;-1.33	5.31	1.23	0.21249	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000003	T	0.79981	0.4540	L	0.40543	1.245	0.52501	D	0.999955	P;D;P	0.61697	0.767;0.99;0.88	P;D;B	0.63957	0.525;0.92;0.444	T	0.72921	-0.4145	10	0.21014	T	0.42	-23.3157	8.4608	0.32927	0.369:0.0:0.631:0.0	.	176;199;191	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	191;199;176	ENSP00000225308:L191M;ENSP00000366299:L199M;ENSP00000444540:L176M	ENSP00000225308:L191M	L	-	1	2	SLC25A39	39754048	1.000000	0.71417	0.856000	0.33681	0.045000	0.14185	1.822000	0.39052	0.118000	0.18165	-0.137000	0.14449	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	1	0	1	15	186	0	41	1	9.999999e-01	57	381	0	41	2		0	0	0	0	0	2	1	9.998733e-01	15	182	0	41	2								-19.732030	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.920000	0.530000	1.000000	1.000000	0.875509	0.920000	1	7.000000e-01	1
SLC25A39	51629	broad.mit.edu	37	17	42398537	42398537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398537C>T	ENST00000377095.5	-	8	699	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	SLC25A39_ENST00000225308.8_Missense_Mutation_p.V186M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39			7		Prostate(33;0.0233)			CGGTACGACACATGCTGAGCC	0.627000																								0							SO:0001583	missense			ENST00000377095.5	1	1	hg19	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	7.056	0.565521	0.13560	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.79033	-1.23;-1.23;-1.23	5.31	2.02	0.26589	Mitochondrial carrier domain (2);	0.241487	0.33980	N	0.004373	T	0.69637	0.3133	L	0.41632	1.29	0.40027	D	0.975488	B;B;B	0.15473	0.001;0.013;0.001	B;B;B	0.16722	0.016;0.01;0.009	T	0.65413	-0.6174	10	0.31617	T	0.26	-16.7721	16.3624	0.83273	0.0:0.3223:0.6777:0.0	.	171;194;186	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	186;194;171	ENSP00000225308:V186M;ENSP00000366299:V194M;ENSP00000444540:V171M	ENSP00000225308:V186M	V	-	1	0	SLC25A39	39754063	0.998000	0.40836	0.015000	0.15790	0.020000	0.10135	2.820000	0.48057	0.777000	0.33496	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	1	0	1	17	197	0	43	1	1	63	341	0	43	2		0	0	0	0	0	2	1	9.999650e-01	17	192	0	43	2								-19.998500	1	0	121394	2	33	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.970000	0.580000	1.000000	1.000000	0.906409	0.970000	1	7.600000e-01	1
GRN	2896	broad.mit.edu	37	17	42429421	42429421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429421G>T	ENST00000053867.3	+	11	1280	c.1218G>T	c.(1216-1218)caG>caT	p.Q406H	GRN_ENST00000589265.1_Missense_Mutation_p.Q249H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin			23		Prostate(33;0.0181)			GCTGCCCCCAGGGCTACACGT	0.657000																								0							SO:0001583	missense			ENST00000053867.3	1	1	hg19	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601522	0.28534	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.71817	-0.6	4.98	-1.24	0.09435	Granulin (3);	1.020460	0.07832	N	0.961501	T	0.44685	0.1305	N	0.05608	-0.01	0.28734	N	0.90234	B;B	0.11235	0.001;0.004	B;B	0.14023	0.003;0.01	T	0.32666	-0.9898	10	0.36615	T	0.2	-0.6967	3.0421	0.06141	0.0868:0.1987:0.3692:0.3453	.	343;406	B4DJI2;P28799	.;GRN_HUMAN	H	406;226	ENSP00000053867:Q406H	ENSP00000053867:Q406H	Q	+	3	2	GRN	39784947	0.000000	0.05858	0.987000	0.45799	0.942000	0.58702	-0.586000	0.05787	0.123000	0.18342	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	1	0	1	59	292	0	63	1	1	536	2149	0	63	2		0	0	0	0	0	2	1	1	58	290	0	61	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRN	2896	broad.mit.edu	37	17	42429451	42429451	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429451T>C	ENST00000053867.3	+	11	1310	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	GRN_ENST00000589265.1_Silent_p.C259C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin			23		Prostate(33;0.0181)			AGGGGCAGTGTCAGCGAGGAA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000053867.3	1	1	hg19	CCDS11483.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	1	0	1	74	340	0	72	1	1	646	2787	0	72	2		0	0	0	0	0	2	1	1	73	333	0	68	2								-20.000000	1	0	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPATCH8	23131	broad.mit.edu	37	17	42476826	42476826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42476826G>A	ENST00000591680.1	-	8	2649	c.2619C>T	c.(2617-2619)agC>agT	p.S873S	GPATCH8_ENST00000434000.1_Silent_p.S795S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8			50		Prostate(33;0.0181)			AGGCATCTGAGCTACTTGAGT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000591680.1	1	1	hg19	CCDS32666.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	1	0	1	117	534	0	111	1	9.999468e-01	13	53	0	111	2		0	0	0	0	0	2	1	1	113	531	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD2	2535	broad.mit.edu	37	17	42635747	42635747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42635747G>A	ENST00000315323.3	+	1	823	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2			33		Prostate(33;0.0181)			TGCGCGGCCCGATGGTTCCAT	0.617000																								0							SO:0001583	missense			ENST00000315323.3	1	1	hg19	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	0.258	-1.001330	0.02128	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73258	-0.73	4.34	4.34	0.51931	.	0.112484	0.64402	D	0.000017	T	0.41396	0.1157	N	0.01874	-0.695	0.31338	N	0.683994	B	0.12630	0.006	B	0.04013	0.001	T	0.30504	-0.9976	10	0.02654	T	1	.	16.4665	0.84080	0.0:0.0:1.0:0.0	.	231	Q14332	FZD2_HUMAN	N	307;231	ENSP00000323901:D231N	ENSP00000323901:D231N	D	+	1	0	FZD2	39991273	0.767000	0.28508	0.806000	0.32338	0.629000	0.37895	1.461000	0.35255	1.935000	0.56089	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	1	0	1	60	302	0	74	1	9.783230e-01	10	23	0	74	2		0	0	0	0	0	2	1	1	60	297	0	73	2								-20.000000	1	1	121162	1	33	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD2	2535	broad.mit.edu	37	17	42636670	42636670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42636670G>T	ENST00000315323.3	+	1	1746	c.1614G>T	c.(1612-1614)tgG>tgT	p.W538C		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2			33		Prostate(33;0.0181)			CGGGCTTCTGGATCTGGTCGG	0.627000																								0							SO:0001583	missense			ENST00000315323.3	0	1	hg19	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	18.33	3.599520	0.66332	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.91464	-2.85	4.86	4.86	0.63082	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98737	1.0715	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	538	Q14332	FZD2_HUMAN	C	614;538	ENSP00000323901:W538C	ENSP00000323901:W538C	W	+	3	0	FZD2	39992196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.866000	0.99616	2.236000	0.73375	0.555000	0.69702	TGG		TCGA-IB-7651-01A-11D-2154-08	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	0	0	0	6	178	0	27	1	5.169811e-01	3	44	0	27	2		0	0	0	0	0	2	1	9.651520e-01	6	177	0	25	2								-8.582715	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.430000	0.170000	1.000000	0.380000	0.490418	0.430000	0	2.800000e-01	6.900000e-01
DBF4B	80174	broad.mit.edu	37	17	42800334	42800334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42800334C>A	ENST00000315005.3	+	3	307	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B			7		Prostate(33;0.0322)			TTACTTGGATCTGCCTGCTGG	0.502000																								0							SO:0001583	missense			ENST00000315005.3	1	1	hg19	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617235	0.66672	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005;ENST00000525011	T;T;T	0.11169	2.8;2.8;2.8	3.94	3.94	0.45596	.	0.183972	0.25327	U	0.031462	T	0.29817	0.0745	M	0.73962	2.25	0.26725	N	0.970697	D;D;D;D	0.71674	0.994;0.998;0.989;0.998	P;D;P;D	0.71656	0.906;0.962;0.862;0.974	T	0.02437	-1.1159	10	0.59425	D	0.04	-9.6037	11.6941	0.51534	0.0:1.0:0.0:0.0	.	57;41;57;57	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	M	57;57;57;57;41	ENSP00000377178:L57M;ENSP00000381381:L57M;ENSP00000323663:L57M	ENSP00000323663:L57M	L	+	1	2	DBF4B	40155860	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.100000	0.41777	2.208000	0.71279	0.555000	0.69702	CTG		TCGA-IB-7651-01A-11D-2154-08	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	1	0	1	72	317	0	72	1	5.799492e-01	4	6	0	72	2		0	0	0	0	0	2	1	1	72	315	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DBF4B	80174	broad.mit.edu	37	17	42824842	42824842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42824842C>T	ENST00000315005.3	+	12	1161	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	DBF4B_ENST00000393547.2_Silent_p.S341S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B			7		Prostate(33;0.0322)			CTCAGCTCAGCCACAGCTTTG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000315005.3	1	1	hg19	CCDS11485.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	1	0	1	56	212	0	62	0	1.991518e-01	0	4	0	62	2		0	0	0	0	0	2	1	1	56	211	0	59	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DBF4B	80174	broad.mit.edu	37	17	42828513	42828513	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42828513C>A	ENST00000315005.3	+	14	1878	c.1740C>A	c.(1738-1740)tcC>tcA	p.S580S	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B			7		Prostate(33;0.0322)			CCTTCCCCTCCTATCTCAATG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000315005.3	1	1	hg19	CCDS11485.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	1	0	1	114	565	0	138	0	2.872264e-02	0	2	0	138	2		0	0	0	0	0	2	1	1	113	555	0	137	2								-2.887382	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GJC1	10052	broad.mit.edu	37	17	42882639	42882639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42882639C>A	ENST00000426548.1	-	3	816	c.547G>T	c.(547-549)Gca>Tca	p.A183S	GJC1_ENST00000592524.1_Missense_Mutation_p.A183S|GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000590758.1_Missense_Mutation_p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa			19		Prostate(33;0.0959)			ACGGTCCTTGCCAGCAACTGC	0.483000																								0							SO:0001583	missense			ENST00000426548.1	1	1	hg19	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608452	0.14002	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97924	-4.61;-4.61	5.52	5.52	0.82312	.	0.237085	0.43747	D	0.000539	D	0.93301	0.7865	N	0.13043	0.29	0.31560	N	0.657666	B	0.09022	0.002	B	0.08055	0.003	D	0.90067	0.4160	10	0.30078	T	0.28	.	13.3967	0.60858	0.1572:0.8428:0.0:0.0	.	183	P36383	CXG1_HUMAN	S	183	ENSP00000411528:A183S;ENSP00000333193:A183S	ENSP00000333193:A183S	A	-	1	0	GJC1	40238165	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.994000	0.40757	2.581000	0.87130	0.514000	0.50259	GCA		TCGA-IB-7651-01A-11D-2154-08	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	1	0	1	148	834	0	178	1	7.500596e-01	4	13	0	178	2		0	0	0	0	0	2	1	1	144	816	0	177	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFTUD2	9343	broad.mit.edu	37	17	42932031	42932031	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42932031A>G	ENST00000426333.2	-	22	2449	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2			32		Prostate(33;0.109)			TTGGTCTGGAAGAACTCTCCC	0.577000													Ovarian(10;65 485 10258 29980 30707)											0							SO:0001583	missense			ENST00000426333.2	1	1	hg19	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710728	0.68730	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.26373	1.74;1.74	5.14	5.14	0.70334	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	N	0.17082	0.46	0.80722	D	1	B;B	0.27316	0.175;0.071	B;B	0.37304	0.246;0.107	T	0.07046	-1.0793	10	0.10636	T	0.68	-7.146	15.1331	0.72542	1.0:0.0:0.0:0.0	.	708;718	B4DMC0;Q15029	.;U5S1_HUMAN	L	718;708;683	ENSP00000392094:F718L;ENSP00000385873:F683L	ENSP00000262414:F708L	F	-	1	0	EFTUD2	40287557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	2.178000	0.69098	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	1	0	1	45	295	0	80	1	1	79	197	0	80	2		0	0	0	0	0	2	1	1	43	290	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
EFTUD2	9343	broad.mit.edu	37	17	42953350	42953350	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42953350G>T	ENST00000426333.2	-	10	1118	c.821C>A	c.(820-822)gCt>gAt	p.A274D	EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2			32		Prostate(33;0.109)			CTTGTAATAAGCATCAGTTGG	0.517000													Ovarian(10;65 485 10258 29980 30707)											0							SO:0001583	missense			ENST00000426333.2	1	1	hg19	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534336	0.64972	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.72051	-0.62;-0.62	4.96	4.96	0.65561	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90137	0.6918	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93564	0.6898	10	0.87932	D	0	-16.834	18.401	0.90516	0.0:0.0:1.0:0.0	.	264;274	B4DMC0;Q15029	.;U5S1_HUMAN	D	274;264;239	ENSP00000392094:A274D;ENSP00000385873:A239D	ENSP00000262414:A264D	A	-	2	0	EFTUD2	40308876	1.000000	0.71417	0.489000	0.27452	0.098000	0.18820	9.591000	0.98241	2.589000	0.87451	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	1	0	1	191	907	0	232	1	1	45	142	0	232	2		0	0	0	0	0	2	1	1	188	891	0	229	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFTUD2	9343	broad.mit.edu	37	17	42957999	42957999	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42957999A>G	ENST00000426333.2	-	8	839	c.542T>C	c.(541-543)aTc>aCc	p.I181T	EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T|EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2			32		Prostate(33;0.109)			AGTGCTTTTGATGCCTACACC	0.443000													Ovarian(10;65 485 10258 29980 30707)											0							SO:0001583	missense			ENST00000426333.2	1	1	hg19	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196402	0.78902	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.77098	-1.07;-1.07	5.23	5.23	0.72850	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.044203	0.85682	D	0.000000	D	0.86920	0.6049	M	0.88512	2.96	0.80722	D	1	P;P	0.35944	0.529;0.529	P;P	0.48524	0.58;0.58	D	0.88626	0.3166	10	0.66056	D	0.02	-1.4112	15.2882	0.73846	1.0:0.0:0.0:0.0	.	171;181	B4DMC0;Q15029	.;U5S1_HUMAN	T	181;171;146	ENSP00000392094:I181T;ENSP00000385873:I146T	ENSP00000262414:I171T	I	-	2	0	EFTUD2	40313525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.777000	0.91781	2.191000	0.70037	0.482000	0.46254	ATC		TCGA-IB-7651-01A-11D-2154-08	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	1	0	1	70	261	0	84	1	1	51	123	0	84	2		0	0	0	0	0	2	1	1	69	256	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFTUD2	9343	broad.mit.edu	37	17	42971886	42971886	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42971886C>A	ENST00000426333.2	-	2	301	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000589211.1_5'Flank|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2			32		Prostate(33;0.109)			AAGTCGGTATCCATGATGCTA	0.403000													Ovarian(10;65 485 10258 29980 30707)											0							SO:0001583	missense			ENST00000426333.2	1	1	hg19	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328628	0.81690	.	.	ENSG00000108883	ENST00000426333;ENST00000262414	T	0.75704	-0.96	5.24	5.24	0.73138	.	0.054873	0.64402	D	0.000001	D	0.87799	0.6268	M	0.91038	3.17	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61003	0.882;0.882	D	0.90647	0.4579	10	0.87932	D	0	-18.5418	16.6401	0.85069	0.0:1.0:0.0:0.0	.	2;2	B4DMC0;Q15029	.;U5S1_HUMAN	Y	2	ENSP00000392094:D2Y	ENSP00000262414:D2Y	D	-	1	0	EFTUD2	40327412	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.925000	0.75829	2.450000	0.82876	0.555000	0.69702	GAT		TCGA-IB-7651-01A-11D-2154-08	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	0	0	0	18	562	0	111	1	9.722135e-01	13	172	0	111	2		0	0	0	0	0	2	1	9.999805e-01	18	556	0	110	2								-3.382564	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.380000	0.230000	1.000000	0.360000	0.444365	0.380000	0	2.900000e-01	5.200000e-01
GFAP	2670	broad.mit.edu	37	17	42985496	42985496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42985496G>T	ENST00000253408.5	-	8	1258	c.1193C>A	c.(1192-1194)tCt>tAt	p.S398Y	GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	p.S398C(1)		23		Prostate(33;0.0959)			TTCTGACACAGACTTGGTGTC	0.592000																								1	Substitution - Missense(1)	GRCh37	CM083521	GFAP	M		SO:0001583	missense			ENST00000253408.5	1	1	hg19	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715042	0.68844	.	.	ENSG00000131095	ENST00000253408;ENST00000421021	D	0.97811	-4.55	5.23	5.23	0.72850	.	0.742362	0.13157	N	0.409394	D	0.95856	0.8651	L	0.27053	0.805	0.80722	D	1	P	0.45672	0.864	P	0.44597	0.454	D	0.94770	0.7944	10	0.38643	T	0.18	.	18.9902	0.92788	0.0:0.0:1.0:0.0	.	398	P14136	GFAP_HUMAN	Y	398;373	ENSP00000253408:S398Y	ENSP00000253408:S398Y	S	-	2	0	GFAP	40341022	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	7.074000	0.76791	2.735000	0.93741	0.549000	0.68633	TCT		TCGA-IB-7651-01A-11D-2154-08	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	1	0	0	34	692	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1	34	678	0	148	2								-5.381218	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.570000	0.390000	1.000000	0.550000	0.609536	0.570000	0	4.700000e-01	7.100000e-01
GFAP	2670	broad.mit.edu	37	17	42990750	42990750	+	Missense_Mutation	SNP	C	C	T	rs56679084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42990750C>T	ENST00000253408.5	-	4	732	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GFAP_ENST00000435360.2_Missense_Mutation_p.E223K|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000586793.1_Missense_Mutation_p.E223K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein			23		Prostate(33;0.0959)			ACGTCAAGCTCCACATGGACC	0.612000																								0		GRCh37	CM034656	GFAP	M	rs56679084	SO:0001583	missense			ENST00000253408.5	0	1	hg19	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036126	0.75617	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.92495	-3.05;-3.05	4.93	4.93	0.64822	Filament (1);	0.058017	0.64402	D	0.000002	D	0.94823	0.8328	M	0.73319	2.225	0.58432	D	0.999992	D;D	0.56968	0.978;0.972	P;D	0.62955	0.829;0.909	D	0.92488	0.5998	10	0.20046	T	0.44	.	18.3229	0.90244	0.0:1.0:0.0:0.0	.	223;223	E9PAX3;P14136	.;GFAP_HUMAN	K	223;198;223	ENSP00000253408:E223K;ENSP00000403962:E223K	ENSP00000253408:E223K	E	-	1	0	GFAP	40346276	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.651000	0.83577	2.746000	0.94184	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	1	0	1	76	299	0	56	0	1.881422e-01	0	4	0	56	2		0	0	0	0	0	2	1	1	75	297	0	56	2								-3.122473	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFAP	2670	broad.mit.edu	37	17	42992761	42992761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42992761C>T	ENST00000253408.5	-	1	159	c.94G>A	c.(94-96)Ggt>Agt	p.G32S	GFAP_ENST00000435360.2_Missense_Mutation_p.G32S|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.G32S	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein			23		Prostate(33;0.0959)			GTGCCAGGACCCAGACGGCGG	0.672000																								0							SO:0001583	missense			ENST00000253408.5	1	1	hg19	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439931	0.43326	.	.	ENSG00000131095	ENST00000253408;ENST00000435360;ENST00000376990	D;D;T	0.86030	-2.06;-2.01;-1.42	4.82	3.85	0.44370	.	0.358527	0.29565	N	0.011784	T	0.72622	0.3483	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.13594	0.008;0.001	B;B	0.12837	0.008;0.001	T	0.61143	-0.7122	10	0.38643	T	0.18	.	8.3497	0.32295	0.0:0.758:0.1563:0.0857	.	32;32	E9PAX3;P14136	.;GFAP_HUMAN	S	32	ENSP00000253408:G32S;ENSP00000403962:G32S;ENSP00000366189:G32S	ENSP00000253408:G32S	G	-	1	0	GFAP	40348287	0.002000	0.14202	0.072000	0.20136	0.884000	0.51177	1.437000	0.34991	1.401000	0.46761	0.561000	0.74099	GGT		TCGA-IB-7651-01A-11D-2154-08	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	1	0	0	22	147	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.999989e-01	21	143	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.998408	0.990000	1	9.900000e-01	1
KIF18B	146909	broad.mit.edu	37	17	43005605	43005605	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43005605C>T	ENST00000593135.1	-	13	2162	c.2065G>A	c.(2065-2067)Gtt>Att	p.V689I	KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I|KIF18B_ENST00000587309.1_Missense_Mutation_p.V701I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B			21		Prostate(33;0.155)			GCTGGGCAAACGCGAGGGGAA	0.652000																								0							SO:0001583	missense			ENST00000593135.1	0	1	hg19	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516827	0.00151	0.001985	0.0	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.71579	-0.58;-0.58	4.39	-4.36	0.03645	.	.	.	.	.	T	0.39989	0.1099	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.31641	-0.9936	9	0.08179	T	0.78	.	3.1988	0.06643	0.1292:0.4607:0.1946:0.2155	.	701;698;710	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	701;692;701	ENSP00000412798:V701I;ENSP00000341466:V692I	ENSP00000341466:V692I	V	-	1	0	KIF18B	40361131	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.120000	0.03273	-0.762000	0.04664	-1.486000	0.00981	GTT		TCGA-IB-7651-01A-11D-2154-08	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	0	0	0	6	171	0	25	1	1.074756e-01	3	11	0	25	2		0	0	0	0	0	2	1	9.645398e-01	6	169	0	24	2								-8.282346	1	1	120946	31	42	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.450000	0.180000	1.000000	0.400000	0.505286	0.450000	0	2.900000e-01	7.200000e-01
KIF18B	146909	broad.mit.edu	37	17	43013546	43013546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013546C>T	ENST00000593135.1	-	2	264	c.167G>A	c.(166-168)gGc>gAc	p.G56D	KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D|KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D|KIF18B_ENST00000587309.1_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B			21		Prostate(33;0.155)			ATCATGGGTGCCACCCCATTT	0.617000																								0							SO:0001583	missense			ENST00000593135.1	1	1	hg19	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105267	0.20632	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74737	-0.87;-0.87	5.46	4.48	0.54585	Kinesin, motor domain (4);	0.883608	0.09370	N	0.811513	T	0.63815	0.2543	L	0.39514	1.22	0.09310	N	1	B;B;B	0.27013	0.166;0.137;0.137	B;B;B	0.29440	0.102;0.062;0.062	T	0.51608	-0.8684	10	0.12430	T	0.62	.	7.3631	0.26758	0.1691:0.7461:0.0:0.0847	.	65;65;65	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	D	56	ENSP00000412798:G56D;ENSP00000341466:G56D	ENSP00000341466:G56D	G	-	2	0	KIF18B	40369072	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.144000	0.10280	1.428000	0.47296	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	1	0	1	25	98	0	21	1	4.425440e-01	2	5	0	21	2		0	0	0	0	0	2	1	9.999999e-01	24	97	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
KIF18B	146909	broad.mit.edu	37	17	43013726	43013726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013726C>A	ENST00000590129.1	-	1	13	c.14G>T	c.(13-15)gGt>gTt	p.G5V	KIF18B_ENST00000593135.1_5'UTR|KIF18B_ENST00000438933.2_5'UTR|KIF18B_ENST00000587309.1_5'UTR|KIF18B_ENST00000339151.4_5'UTR			Q86Y91	KI18B_HUMAN	kinesin family member 18B			21		Prostate(33;0.155)			TGTGGTGACACCTGGGTGAGA	0.652000																								0							SO:0001583	missense			ENST00000590129.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	KIF18B-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000448725.1	0	0	0	11	36	0	8	1	5.309978e-01	2	5	0	8	2		0	0	0	0	0	2	1	9.990064e-01	11	36	0	8	2								-20.000000	1	1	120346	4	27	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999612	0.990000	1	9.900000e-01	1
NMT1	4836	broad.mit.edu	37	17	43181223	43181223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43181223C>T	ENST00000592782.1	+	11	1442	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NMT1_ENST00000258960.2_Silent_p.D437D			P30419	NMT1_HUMAN	N-myristoyltransferase 1			8		Prostate(33;0.155)			TCATGAGCGACGCCCTTGTCC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000592782.1	1	1	hg19	CCDS11494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	1	0	0	266	1107	0	219	1	1	111	256	0	219	2		0	0	0	0	0	2	1	1	260	1086	0	217	2								-20.000000	1	1	121412	6	42	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEXIM1	10614	broad.mit.edu	37	17	43227267	43227267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43227267G>T	ENST00000332499.2	+	1	2584	c.710G>T	c.(709-711)aGc>aTc	p.S237I	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1			11					GACGACACCAGCGATGACGAC	0.617000																								0							SO:0001583	missense			ENST00000332499.2	1	1	hg19	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925625	0.73213	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.74	4.74	0.60224	.	0.217998	0.45606	D	0.000351	T	0.62636	0.2444	M	0.77616	2.38	0.44771	D	0.997773	P	0.51933	0.949	P	0.46110	0.504	T	0.69752	-0.5060	9	0.66056	D	0.02	-16.1972	12.2268	0.54465	0.0:0.1719:0.828:0.0	.	237	O94992	HEXI1_HUMAN	I	237	.	ENSP00000328773:S237I	S	+	2	0	HEXIM1	40583050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.187000	0.69744	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	1	0	1	67	371	0	78	1	1	54	177	0	78	2		0	0	0	0	0	2	1	1	67	366	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMNL1	752	broad.mit.edu	37	17	43311026	43311026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43311026A>G	ENST00000331495.3	+	5	749	c.413A>G	c.(412-414)gAg>gGg	p.E138G	FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1			33					TGGGTGCAGGAGTTCCTCAAT	0.627000													GBM(164;1247 1997 8702 11086 51972)											0							SO:0001583	missense			ENST00000331495.3	1	1	hg19	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.594788	0.66219	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.88818	-2.43;-2.43	5.14	5.14	0.70334	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.054446	0.64402	D	0.000001	D	0.95162	0.8432	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95901	0.8915	10	0.72032	D	0.01	.	13.7986	0.63186	1.0:0.0:0.0:0.0	.	138;138	O95466-2;O95466	.;FMNL_HUMAN	G	138	ENSP00000327442:E138G;ENSP00000329219:E138G	ENSP00000327442:E138G	E	+	2	0	FMNL1	40666809	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.362000	0.79507	1.946000	0.56461	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	1	0	1	46	257	0	69	0	9.995993e-01	1	67	0	69	2		0	0	0	0	0	2	1	1	46	253	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MAP3K14	9020	broad.mit.edu	37	17	43364233	43364233	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43364233C>T	ENST00000344686.2	-	0	822							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14			27					GCAGTTTCCACACGTGGTTCA	0.612000																								0											ENST00000344686.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	5	216	0	51	0	2.159181e-01	0	32	0	51	2		0	0	0	0	0	2	1	9.352180e-01	4	213	0	50	2								-6.500907	1	0	120874	1	26	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.300000	0.110000	1.000000	0.260000	0.379518	0.300000	0	1.900000e-01	5.100000e-01
ARHGAP27	201176	broad.mit.edu	37	17	43482416	43482416	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43482416G>A	ENST00000428638.1	-	3	1121	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000532038.1_Silent_p.D174D|ARHGAP27_ENST00000532891.2_Silent_p.D374D|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000376922.2_Silent_p.D33D			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27			17	Renal(3;0.0405)				CGGGAGAATAGTCCTCCTCGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000428638.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	55	227	0	72	1	9.999851e-01	25	46	0	72	2		0	0	0	0	0	2	1	1	54	217	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP27	201176	broad.mit.edu	37	17	43507638	43507638	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43507638G>T	ENST00000428638.1	-	1	7	c.8C>A	c.(7-9)gCg>gAg	p.A3E	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000290470.3_Missense_Mutation_p.A3E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A3E|ARHGAP27_ENST00000528273.1_Missense_Mutation_p.A3E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27			17	Renal(3;0.0405)				CACCACGTCCGCCGCCATCGC	0.692000																								0							SO:0001583	missense			ENST00000428638.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761006	0.69763	.	.	ENSG00000159314	ENST00000532891;ENST00000428638;ENST00000442348;ENST00000528273;ENST00000290470	T;T;T;T;T	0.54071	2.94;2.99;2.9;0.59;0.59	3.43	3.43	0.39272	.	.	.	.	.	T	0.65154	0.2664	L	0.59436	1.845	0.25090	N	0.990867	D	0.71674	0.998	D	0.79108	0.992	T	0.51772	-0.8663	9	0.51188	T	0.08	.	8.7851	0.34816	0.0:0.2329:0.7671:0.0	.	3	Q6ZUM4-4	.	E	3	ENSP00000433942:A3E;ENSP00000403323:A3E;ENSP00000409330:A3E;ENSP00000436137:A3E;ENSP00000290470:A3E	ENSP00000290470:A3E	A	-	2	0	ARHGAP27	40863421	0.985000	0.35326	1.000000	0.80357	0.899000	0.52679	1.837000	0.39201	1.816000	0.52996	0.449000	0.29647	GCG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	12	48	0	13	1	2.850888e-01	3	2	0	13	2		0	0	0	0	0	2	1	9.993179e-01	12	46	0	12	2								-19.999090	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999436	0.990000	1	9.900000e-01	1
PLEKHM1	9842	broad.mit.edu	37	17	43531235	43531235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43531235G>A	ENST00000430334.3	-	7	2116	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	PLEKHM1_ENST00000421073.2_Silent_p.L572L|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1			26	Renal(3;0.0405)				CGGGCTCCGAGAGCAGGTCTG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000430334.3	1	1	hg19	CCDS32671.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	1	0	0	95	410	0	88	1	9.963566e-01	18	21	0	88	2		0	0	0	0	0	2	1	1	88	385	0	88	2								-3.452748	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPT	4137	broad.mit.edu	37	17	44051802	44051802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44051802C>T	ENST00000571987.1	+	3	272	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000344290.5_Missense_Mutation_p.A91V|MAPT_ENST00000574436.1_Missense_Mutation_p.A91V|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V			P10636	TAU_HUMAN	microtubule-associated protein tau			38		Melanoma(429;0.216)		Docetaxel(DB01248)|Paclitaxel(DB01229)	CAGGCTGCCGCGCAGCCCCAC	0.637000																								0							SO:0001583	missense			ENST00000571987.1	1	1	hg19	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574214	0.86542	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000535772;ENST00000415613	T;T;T;T;T	0.28255	2.56;2.56;1.62;1.69;2.56	5.39	5.39	0.77823	.	0.000000	0.39407	N	0.001378	T	0.47563	0.1452	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.944;0.955	T	0.19031	-1.0318	10	0.27082	T	0.32	-15.5257	14.651	0.68797	0.0:1.0:0.0:0.0	.	91;91;91	P10636-9;P10636-8;P10636	.;.;TAU_HUMAN	V	91	ENSP00000340820:A91V;ENSP00000262410:A91V;ENSP00000303214:A91V;ENSP00000443028:A91V;ENSP00000410838:A91V	ENSP00000262410:A91V	A	+	2	0	MAPT	41407638	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	3.944000	0.56629	2.556000	0.86216	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	1	0	1	14	76	0	23	0	2.805049e-02	0	2	0	23	2		0	0	0	0	0	2	1	9.998240e-01	13	76	0	23	2								-19.999950	1	1	121198	8	40	1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.998494	0.990000	1	9.900000e-01	1
MAPT	4137	broad.mit.edu	37	17	44060851	44060851	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44060851C>A	ENST00000571987.1	+	5	681	c.681C>A	c.(679-681)tcC>tcA	p.S227S	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.S227S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Silent_p.S227S|MAPT_ENST00000415613.2_Silent_p.S227S			P10636	TAU_HUMAN	microtubule-associated protein tau			38		Melanoma(429;0.216)		Docetaxel(DB01248)|Paclitaxel(DB01229)	TCGATGAGTCCTCCCCCCAAG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000571987.1	1	1	hg19	CCDS11501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	0	0	1	22	129	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999991e-01	22	126	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999550	0.990000	1	9.900000e-01	1
STH	246744	broad.mit.edu	37	17	44076881	44076881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44076881G>A	ENST00000537309.1	+	1	266	c.236G>A	c.(235-237)aGc>aAc	p.S79N	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000415613.2_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin			7					AGTTCTTACAGCTCTGAAGAG	0.557000																								0							SO:0001583	missense			ENST00000537309.1	1	1	hg19	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	G	8.547	0.874519	0.17395	.	.	ENSG00000256762	ENST00000537309	T	0.54675	0.56	2.89	0.75	0.18387	.	.	.	.	.	T	0.29190	0.0726	N	0.08118	0	0.09310	N	1	P	0.40332	0.713	B	0.40410	0.328	T	0.16158	-1.0412	9	0.87932	D	0	.	2.9961	0.05998	0.158:0.0:0.5773:0.2646	.	79	Q8IWL8	STH_HUMAN	N	79	ENSP00000443168:S79N	ENSP00000443168:S79N	S	+	2	0	STH	41432718	0.007000	0.16637	0.001000	0.08648	0.029000	0.11900	0.605000	0.24179	0.240000	0.21263	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1	1	0	1	36	118	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	36	116	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.015275	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPNS2	124976	broad.mit.edu	37	17	4436305	4436305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436305G>A	ENST00000329078.3	+	7	1179	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)			6					TGGCCACGTCGGCTGTCTCCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000329078.3	1	1	hg19	CCDS42237.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1	1	0	1	64	298	0	72	1	1	112	146	0	72	2		0	0	0	0	0	2	1	1	63	291	0	70	2								-3.386044	1	0	120696	9	38	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPNS2	124976	broad.mit.edu	37	17	4436361	4436361	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436361G>A	ENST00000329078.3	+	7	1235	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)			6					TACCTGCACCGCGCCCAAGTT	0.701000																								0							SO:0001583	missense			ENST00000329078.3	1	1	hg19	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662842	0.47572	.	.	ENSG00000183018	ENST00000329078	T	0.59083	0.29	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.46741	1.465	0.53005	D	0.999968	P	0.34662	0.462	B	0.33254	0.16	T	0.46512	-0.9186	10	0.18276	T	0.48	.	16.29	0.82742	0.0:0.0:1.0:0.0	.	342	Q8IVW8	SPNS2_HUMAN	H	342	ENSP00000333292:R342H	ENSP00000333292:R342H	R	+	2	0	SPNS2	4383110	1.000000	0.71417	0.986000	0.45419	0.164000	0.22412	7.614000	0.82996	2.189000	0.69895	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1	1	0	1	30	149	0	32	1	1	96	128	0	32	2		0	0	0	0	0	2	1	1	29	148	0	32	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
MYBBP1A	10514	broad.mit.edu	37	17	4445963	4445963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4445963C>T	ENST00000254718.4	-	21	3272	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a			24					GGGGCTGTTGCGCTTGGTCAG	0.637000																								0							SO:0001583	missense			ENST00000254718.4	1	1	hg19	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738408	0.89573	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.68181	-0.31;-0.31	5.7	4.73	0.59995	Armadillo-type fold (1);	0.102039	0.64402	D	0.000003	T	0.78874	0.4352	M	0.71581	2.175	0.42954	D	0.994382	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80115	-0.1517	10	0.56958	D	0.05	-26.5309	10.5564	0.45121	0.0:0.9112:0.0:0.0888	.	989;989	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	989	ENSP00000370968:R989H;ENSP00000254718:R989H	ENSP00000254718:R989H	R	-	2	0	MYBBP1A	4392712	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.033000	0.57282	1.420000	0.47138	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	1	0	1	95	461	0	107	1	1	53	105	0	107	2		0	0	0	0	0	2	1	1	91	452	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYBBP1A	10514	broad.mit.edu	37	17	4449013	4449013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4449013C>T	ENST00000254718.4	-	15	2271	c.1965G>A	c.(1963-1965)ttG>ttA	p.L655L	MYBBP1A_ENST00000381556.2_Silent_p.L655L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a			24					ACAGGGCCAGCAAGATCTCCA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000254718.4	1	1	hg19	CCDS11046.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	1	0	1	33	114	0	15	1	9.999999e-01	34	67	0	15	2		0	0	0	0	0	2	1	1	32	111	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYBBP1A	10514	broad.mit.edu	37	17	4455562	4455562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4455562C>T	ENST00000254718.4	-	7	1069	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a			24					ACAGAGGAGGCGGCCATCTTC	0.617000																								0							SO:0001583	missense			ENST00000254718.4	1	1	hg19	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.187487	0.57909	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.67345	-0.26;-0.26	5.78	1.52	0.23074	Armadillo-type fold (1);	0.293259	0.37906	N	0.001897	T	0.67505	0.2900	M	0.64997	1.995	0.33679	D	0.611828	D;D	0.60160	0.987;0.984	P;P	0.55161	0.679;0.77	T	0.69698	-0.5075	10	0.30854	T	0.27	-9.8343	5.999	0.19509	0.2503:0.5632:0.1206:0.0659	.	255;255	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	T	255	ENSP00000370968:A255T;ENSP00000254718:A255T	ENSP00000254718:A255T	A	-	1	0	MYBBP1A	4402311	0.892000	0.30473	0.001000	0.08648	0.000000	0.00434	2.404000	0.44539	0.154000	0.19237	-0.829000	0.03081	GCC		TCGA-IB-7651-01A-11D-2154-08	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	1	0	1	59	330	0	85	1	9.988623e-01	15	44	0	85	2		0	0	0	0	0	2	1	1	56	326	0	84	2								-3.146211	1	1	121408	3	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WNT3	7473	broad.mit.edu	37	17	44845788	44845788	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44845788C>T	ENST00000225512.5	-	4	1128	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3			13			BRCA - Breast invasive adenocarcinoma(9;0.0257)		GCTTCTCCGTCCTCGTGTTGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000225512.5	1	1	hg19	CCDS11505.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	1	0	1	151	574	0	133	1	8.500479e-01	4	11	0	133	2		0	0	0	0	0	2	1	1	148	570	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMTNL2	342527	broad.mit.edu	37	17	4496307	4496307	+	Missense_Mutation	SNP	C	C	T	rs112578571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4496307C>T	ENST00000389313.4	+	3	638	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47W	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2			13					CCTCTCCTTGCGGCTGCCCCA	0.622000																								0							SO:0001583	missense			ENST00000389313.4	1	0	hg19	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886283	0.51908	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.82619	-1.63;-1.63	5.36	3.33	0.38152	.	.	.	.	.	T	0.80539	0.4642	L	0.53249	1.67	0.27916	N	0.938427	D	0.62365	0.991	B	0.43623	0.425	T	0.73014	-0.4116	9	0.72032	D	0.01	-14.6887	12.6341	0.56673	0.0:0.6813:0.3187:0.0	.	191	Q2TAL5	SMTL2_HUMAN	W	47;191	ENSP00000345143:R47W;ENSP00000373964:R191W	ENSP00000345143:R47W	R	+	1	2	SMTNL2	4443056	1.000000	0.71417	0.999000	0.59377	0.788000	0.44548	1.130000	0.31393	0.747000	0.32809	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	1	0	0	32	323	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	31	319	0	50	2								-3.318793	1	1	121394	442	58	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.760000	1.000000	1.000000	0.968426	0.990000	1	9.100000e-01	1
MYL4	4635	broad.mit.edu	37	17	45299202	45299202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45299202G>A	ENST00000354968.1	+	5	596	c.468G>A	c.(466-468)cgG>cgA	p.R156R	snoU13_ENST00000516279.1_RNA|MYL4_ENST00000572316.1_Silent_p.R156R|MYL4_ENST00000393450.1_Silent_p.R156R	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic			11					CTGAGCTTCGGCACGTCCTTG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000354968.1	0	1	hg19	CCDS11510.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	0	0	0	6	284	0	48	0	9.046615e-03	0	6	0	48	2		0	0	0	0	0	2	1	9.622787e-01	6	276	0	48	2								-6.715863	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.270000	0.100000	1.000000	0.240000	0.338140	0.270000	0	1.700000e-01	4.300000e-01
ITGB3	3690	broad.mit.edu	37	17	45360742	45360742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45360742G>A	ENST00000559488.1	+	3	204	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H|ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)			39				Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GGCTCACCTCGCTGTGACCTG	0.572000																								0							SO:0001583	missense			ENST00000559488.1	1	1	hg19	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198349	0.94997	0.0	2.33E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95788	-3.81	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98928	1.0786	10	0.87932	D	0	.	17.703	0.88301	0.0:0.0:1.0:0.0	.	63;63	P05106;Q2YFE1	ITB3_HUMAN;.	H	63;16	ENSP00000407801:R16H	ENSP00000262017:R63H	R	+	2	0	C17orf57	42715741	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.824000	0.99380	2.776000	0.95493	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	1	0	1	45	198	0	75	1	7.940164e-01	2	13	0	75	2		0	0	0	0	0	2	1	1	44	193	0	75	2								-3.378521	1	1	121412	5	37	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBX21	30009	broad.mit.edu	37	17	45811195	45811195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45811195C>T	ENST00000177694.1	+	1	586	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21			22					GTGAGGACTACGCGCTACCCG	0.692000																								0							SO:0001819	synonymous_variant			ENST00000177694.1	1	1	hg19	CCDS11514.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	1	0	0	22	70	0	13	0	6.181411e-02	0	2	0	13	2		0	0	0	0	0	2	1	9.999995e-01	21	69	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
OSBPL7	114881	broad.mit.edu	37	17	45886509	45886509	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45886509G>T	ENST00000007414.3	-	20	2294	c.2103C>A	c.(2101-2103)ctC>ctA	p.L701L	OSBPL7_ENST00000392507.3_Silent_p.L701L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7			32					ACTTCCCAAAGAGTCGGTGGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000007414.3	1	1	hg19	CCDS11515.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	1	0	1	63	293	0	64	1	8.716801e-01	4	15	0	64	2		0	0	0	0	0	2	1	1	62	287	0	63	2								-3.388143	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL10	124995	broad.mit.edu	37	17	45904115	45904115	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45904115G>A	ENST00000351111.2	-	4	425	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MRPL10_ENST00000414011.1_Silent_p.Y150Y|MRPL10_ENST00000290208.7_Silent_p.Y150Y	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10			8					GCAGATTTTGGTACTTGGAAT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000351111.2	1	1	hg19	CCDS11516.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	1	0	1	69	310	0	89	1	1	43	107	0	89	2		0	0	0	0	0	2	1	1	66	302	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC46	90506	broad.mit.edu	37	17	45909502	45909502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45909502G>A	ENST00000269025.4	+	2	410	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	MRPL10_ENST00000414011.1_5'Flank|MRPL10_ENST00000351111.2_5'Flank|MRPL10_ENST00000290208.7_5'Flank	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46			9					GGGGGCGTCTGCATCACTGAA	0.532000																								0							SO:0001583	missense			ENST00000269025.4	1	1	hg19	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644109	0.29246	.	.	ENSG00000141294	ENST00000269025	T	0.75050	-0.9	5.69	3.57	0.40892	.	0.589593	0.17425	N	0.174671	T	0.53738	0.1815	L	0.27053	0.805	0.29634	N	0.845248	P	0.44877	0.845	B	0.41619	0.361	T	0.54899	-0.8224	10	0.02654	T	1	-4.0105	5.8611	0.18747	0.0979:0.0:0.712:0.1901	.	16	Q96FV0	LRC46_HUMAN	Y	16	ENSP00000269025:C16Y	ENSP00000269025:C16Y	C	+	2	0	LRRC46	43264501	0.980000	0.34600	0.984000	0.44739	0.686000	0.39977	1.122000	0.31295	1.381000	0.46364	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	1	0	0	54	602	0	128	1	5.954907e-02	3	2	0	128	2		0	0	0	0	0	2	1	1	53	592	0	126	2								-13.470450	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.980000	0.740000	1.000000	1.000000	0.945865	0.980000	1	8.600000e-01	1
SP2	6668	broad.mit.edu	37	17	45994216	45994216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45994216C>A	ENST00000376741.4	+	3	916	c.779C>A	c.(778-780)gCt>gAt	p.A260D	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor			13					CCCCCTGTGGCTGTGGCTGAG	0.592000																								0							SO:0001583	missense			ENST00000376741.4	1	1	hg19	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613810	0.87359	.	.	ENSG00000167182	ENST00000376741	T	0.10477	2.87	5.31	5.31	0.75309	.	0.123853	0.56097	D	0.000039	T	0.16085	0.0387	L	0.34521	1.04	0.54753	D	0.999987	D	0.60575	0.988	P	0.51657	0.676	T	0.01440	-1.1354	10	0.30078	T	0.28	.	17.9058	0.88918	0.0:1.0:0.0:0.0	.	260	Q02086	SP2_HUMAN	D	260	ENSP00000365931:A260D	ENSP00000365931:A260D	A	+	2	0	SP2	43349215	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.424000	0.59868	2.768000	0.95171	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	1	0	1	151	731	0	166	1	9.999144e-01	19	47	0	166	2		0	0	0	0	0	2	1	1	147	721	0	163	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP2	6668	broad.mit.edu	37	17	46002805	46002805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46002805C>T	ENST00000376741.4	+	6	1776	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor			13					TGCCCATGTGCGCCTGCACAC	0.592000																								0							SO:0001583	missense			ENST00000376741.4	1	1	hg19	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415481	0.83449	.	.	ENSG00000167182	ENST00000376741	T	0.25749	1.78	4.87	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.61806	-0.6987	10	0.87932	D	0	.	16.9362	0.86203	0.0:1.0:0.0:0.0	.	547	Q02086	SP2_HUMAN	C	547	ENSP00000365931:R547C	ENSP00000365931:R547C	R	+	1	0	SP2	43357804	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.873000	0.69644	2.531000	0.85337	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	1	0	1	175	803	0	195	1	9.999755e-01	27	43	0	195	2		0	0	0	0	0	2	1	1	173	791	0	192	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPO	55163	broad.mit.edu	37	17	46024046	46024046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46024046C>A	ENST00000225573.4	+	7	789	c.684C>A	c.(682-684)gaC>gaA	p.D228E	PNPO_ENST00000534893.1_Missense_Mutation_p.D133E|RP11-6N17.9_ENST00000582262.1_RNA|RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.6_ENST00000580372.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|PNPO_ENST00000544840.1_Missense_Mutation_p.D210E	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase			5					GCCTGCATGACCGGATAGTCT	0.572000											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000225573.4	1	1	hg19	CCDS11522.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668792	0.88348	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.22	4.24	0.50183	Pyridoxine 5&apos (1);Pyridoxamine 5&apos (1);FMN-binding split barrel-related (1);-phosphate oxidase, conserved site (1);-phosphate oxidase, dimerisation, C-terminal (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.986;0.999	D	0.90007	0.4118	10	0.87932	D	0	-5.5804	13.0283	0.58827	0.0:0.9187:0.0:0.0813	.	185;210;228	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	E	228;185;210;133	ENSP00000225573:D228E;ENSP00000399960:D185E;ENSP00000446182:D210E;ENSP00000437480:D133E	ENSP00000225573:D228E	D	+	3	2	PNPO	43379045	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.934000	0.48956	2.439000	0.82584	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	1	0	1	100	369	0	98	1	1	33	62	0	98	2		0	0	0	0	0	2	1	1	99	364	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK5RAP3	80279	broad.mit.edu	37	17	46052879	46052879	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46052879G>A	ENST00000338399.4	+	7	619		c.e7-1		RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3			18					CCCCTCTCTAGGGCGAAAATG	0.572000																								0							SO:0001630	splice_region_variant			ENST00000338399.4	1	1	hg19	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475090	0.43942	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9577	0.89074	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43407878	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	8.986000	0.93492	2.547000	0.85894	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	1	0	1	62	270	0	67	1	9.416391e-02	2	1	0	67	2		0	0	0	0	0	2	1	1	62	263	0	66	2								-3.069850	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK5RAP3	80279	broad.mit.edu	37	17	46056230	46056230	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46056230A>T	ENST00000338399.4	+	11	1130	c.1024A>T	c.(1024-1026)Aca>Tca	p.T342S	CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.T367S	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3			18					AGATGCCCTGACACTGCTTGA	0.537000											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000338399.4	1	1	hg19	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689435	0.29962	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.45276	0.9;0.9	5.18	5.18	0.71444	.	0.329096	0.32935	N	0.005468	T	0.25901	0.0631	N	0.25060	0.705	0.41095	D	0.985628	B;B;B;B	0.26845	0.161;0.097;0.068;0.019	B;B;B;B	0.28991	0.058;0.039;0.097;0.015	T	0.08310	-1.0728	10	0.08599	T	0.76	3.0927	9.5267	0.39169	0.8426:0.0:0.0:0.1574	.	367;255;342;117	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	367;342	ENSP00000438886:T367S;ENSP00000344683:T342S	ENSP00000344683:T342S	T	+	1	0	CDK5RAP3	43411229	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.106000	0.50322	2.168000	0.68352	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	1	0	1	69	372	0	97	1	1	99	97	0	97	2		0	0	0	0	0	2	1	1	67	368	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COPZ2	51226	broad.mit.edu	37	17	46106511	46106511	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46106511T>C	ENST00000006101.4	-	8	519	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2			4					ACCTTCTGGATCACTTGCTGG	0.532000																								0							SO:0001583	missense			ENST00000006101.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	10.52	1.374389	0.24857	.	.	ENSG00000005243	ENST00000006101	.	.	.	4.04	-1.33	0.09172	Longin-like (1);AP complex, mu/sigma subunit (1);	0.449517	0.21559	N	0.072601	T	0.17066	0.0410	N	0.03209	-0.39	0.33074	D	0.53575	B	0.02656	0.0	B	0.09377	0.004	T	0.44097	-0.9350	9	0.02654	T	1	-29.0323	9.9016	0.41351	0.0:0.505:0.0:0.495	.	176	Q9P299	COPZ2_HUMAN	V	174	.	ENSP00000006101:I174V	I	-	1	0	COPZ2	43461510	0.993000	0.37304	0.994000	0.49952	0.994000	0.84299	0.260000	0.18424	-0.265000	0.09352	0.448000	0.29417	ATC		TCGA-IB-7651-01A-11D-2154-08	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	8	13	0	11	0	1	0	141	0	11	2		0	0	0	0	0	2	1	9.942146e-01	8	13	0	11	2								-11.482240	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999534	0.990000	1	9.900000e-01	1
NFE2L1	4779	broad.mit.edu	37	17	46128755	46128755	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46128755G>T	ENST00000362042.3	+	2	891	c.275G>T	c.(274-276)aGg>aTg	p.R92M	NFE2L1_ENST00000361665.3_Missense_Mutation_p.R92M|NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M|NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1			32					GCCCTGGACAGGTTCCAGGTG	0.592000																								0							SO:0001583	missense			ENST00000362042.3	1	1	hg19	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760311	0.31137	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.40225	1.04;1.04	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;P	0.79108	0.992;0.948;0.864	T	0.65051	-0.6262	10	0.54805	T	0.06	-11.4946	17.7252	0.88363	0.0:0.0:1.0:0.0	.	92;92;92	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	M	111;92;92	ENSP00000355190:R92M;ENSP00000350072:R92M	ENSP00000350072:R92M	R	+	2	0	NFE2L1	43483754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.495000	0.84180	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	0	0	1	93	450	1	133	1	1	123	360	1	133	14		0	0	0	0	0	2	1	1	93	444	1	133	15								-3.340380	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFE2L1	4779	broad.mit.edu	37	17	46133807	46133807	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46133807G>T	ENST00000362042.3	+	3	1186	c.570G>T	c.(568-570)gaG>gaT	p.E190D	NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D|NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.E190D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1			32					CTGGGCGTGAGGTTTTTGACT	0.542000																								0							SO:0001583	missense			ENST00000362042.3	0	1	hg19	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409615	0.83340	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.46063	0.88;1.01	5.48	3.48	0.39840	.	0.098545	0.64402	D	0.000002	T	0.45637	0.1352	L	0.55103	1.725	0.49687	D	0.999813	D;P;P;P;B	0.59767	0.986;0.877;0.787;0.787;0.058	P;B;B;B;B	0.52267	0.694;0.315;0.295;0.197;0.031	T	0.41840	-0.9486	10	0.51188	T	0.08	-28.7338	8.7869	0.34825	0.2391:0.0:0.7609:0.0	.	64;32;190;190;190	F5H1B7;B4DYE1;A3KMG6;Q14494-2;Q14494	.;.;.;.;NF2L1_HUMAN	D	209;190;190;64	ENSP00000350072:E190D;ENSP00000445811:E64D	ENSP00000350072:E190D	E	+	3	2	NFE2L1	43488806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.827000	0.39102	1.330000	0.45394	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	0	0	0	32	1943	2	391	0	5.068797e-01	3	644	2	391	11		0	0	0	0	0	2	1	9.813491e-01	32	1908	1	390	18								-2.443760	0	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.190000	0.130000	1.000000	0.190000	0.262497	0.190000	0	1.500000e-01	2.500000e-01
NFE2L1	4779	broad.mit.edu	37	17	46134725	46134725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46134725G>T	ENST00000362042.3	+	5	1449	c.833G>T	c.(832-834)aGc>aTc	p.S278I	NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1			32					GACATTTCCAGCATAACAGAA	0.488000																								0							SO:0001583	missense			ENST00000362042.3	1	1	hg19	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697822	0.48307	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.20200	2.36;2.09	5.64	4.66	0.58398	.	0.551536	0.22298	N	0.061915	T	0.20861	0.0502	L	0.54323	1.7	0.35028	D	0.758518	B;P;P;B	0.42409	0.002;0.779;0.773;0.0	B;B;B;B	0.37304	0.006;0.125;0.246;0.002	T	0.25398	-1.0133	10	0.44086	T	0.13	-19.977	13.2897	0.60264	0.0778:0.0:0.9222:0.0	.	122;90;248;278	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	I	297;278;248;122	ENSP00000350072:S248I;ENSP00000445811:S122I	ENSP00000350072:S248I	S	+	2	0	NFE2L1	43489724	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.054000	0.30455	2.820000	0.97059	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	1	0	1	119	618	0	145	1	1	192	538	0	145	2		0	0	0	0	0	2	1	1	118	604	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBX1	10951	broad.mit.edu	37	17	46153428	46153428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46153428G>A	ENST00000393408.3	-	3	733	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	CBX1_ENST00000225603.4_Missense_Mutation_p.R85C|CBX1_ENST00000495350.1_Missense_Mutation_p.R85C	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1			4					TCAGCTTTGCGCTTGCCTCCC	0.443000													NSCLC(136;694 2497 38792 39034)											0							SO:0001583	missense			ENST00000393408.3	1	1	hg19	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383460	0.61845	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	5.85	0.93711	.	0.154565	0.39615	U	0.001312	T	0.59487	0.2197	L	0.47716	1.5	0.80722	D	1	B	0.18610	0.029	B	0.06405	0.002	T	0.55623	-0.8112	9	0.66056	D	0.02	-6.0528	18.9246	0.92540	0.0:0.0:1.0:0.0	.	85	P83916	CBX1_HUMAN	C	85	.	ENSP00000225603:R85C	R	-	1	0	CBX1	43508427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.032000	0.57274	2.767000	0.95098	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	1	0	1	44	156	0	62	1	1	41	215	0	62	2		0	0	0	0	0	2	1	1	43	149	0	59	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBX1	10951	broad.mit.edu	37	17	46154252	46154252	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46154252G>A	ENST00000393408.3	-	2	595	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	CBX1_ENST00000225603.4_Missense_Mutation_p.L39F|CBX1_ENST00000495350.1_Missense_Mutation_p.L39F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1			4					CACTTTAGGAGGTACTCCACT	0.458000													NSCLC(136;694 2497 38792 39034)											0							SO:0001583	missense			ENST00000393408.3	1	1	hg19	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964686	0.18583	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.85	4.88	0.63580	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.64402	U	0.000008	T	0.73690	0.3619	L	0.32530	0.975	0.80722	D	1	B	0.16603	0.018	B	0.20767	0.031	T	0.66791	-0.5834	10	0.10902	T	0.67	-11.6346	14.0385	0.64660	0.0739:0.0:0.9261:0.0	.	39	P83916	CBX1_HUMAN	F	39	ENSP00000225603:L39F;ENSP00000377060:L39F;ENSP00000385413:L39F;ENSP00000393179:L39F	ENSP00000225603:L39F	L	-	1	0	CBX1	43509251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.835000	0.99442	1.478000	0.48253	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	1	0	1	124	589	0	123	1	1	48	163	0	123	2		0	0	0	0	0	2	1	1	122	574	0	123	2								-3.036247	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARRB2	409	broad.mit.edu	37	17	4619793	4619793	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4619793G>A	ENST00000269260.2	+	5	480	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T|ARRB2_ENST00000574954.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2			7					CCTGTTCATCGCCACCTACCA	0.667000																								0							SO:0001583	missense			ENST00000269260.2	1	1	hg19	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659378	0.47467	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.29397	1.57;1.57	4.55	4.55	0.56014	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.188432	0.46145	D	0.000315	T	0.22704	0.0548	L	0.43646	1.37	0.80722	D	1	B;B;B;B;B	0.33528	0.254;0.158;0.303;0.416;0.084	B;B;B;B;B	0.25405	0.06;0.008;0.019;0.033;0.013	T	0.04961	-1.0915	10	0.45353	T	0.12	-15.3958	9.9618	0.41701	0.0:0.0:0.7977:0.2023	.	83;68;83;68;83	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	T	83;83;68;84	ENSP00000269260:A83T;ENSP00000341895:A68T	ENSP00000269260:A83T	A	+	1	0	ARRB2	4566542	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	1.536000	0.36072	2.371000	0.80710	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	1	0	0	79	299	0	68	1	1	8	139	0	68	2		0	0	0	0	0	2	1	1	79	292	0	67	2								-3.725174	1	1	121412	1	27	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARRB2	409	broad.mit.edu	37	17	4621244	4621244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4621244C>T	ENST00000269260.2	+	8	780	c.547C>T	c.(547-549)Cct>Tct	p.P183S	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S|ARRB2_ENST00000574954.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2			7					CGGCCCCCAGCCTTCAGCCGA	0.627000																								0							SO:0001583	missense			ENST00000269260.2	1	1	hg19	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925126	0.92319	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.20463	2.11;2.07	4.77	4.77	0.60923	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.052944	0.85682	D	0.000000	T	0.45397	0.1340	M	0.76938	2.355	0.80722	D	1	D;D;D;D;D	0.76494	0.987;0.985;0.999;0.998;0.974	P;P;D;P;P	0.63381	0.696;0.75;0.914;0.846;0.641	T	0.48714	-0.9011	10	0.72032	D	0.01	-9.2716	15.3396	0.74284	0.0:1.0:0.0:0.0	.	204;168;183;168;183	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	S	183;183;168;184	ENSP00000269260:P183S;ENSP00000341895:P168S	ENSP00000269260:P183S	P	+	1	0	ARRB2	4567993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.479000	0.83701	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	1	0	1	23	156	0	54	1	1	26	353	0	54	2		0	0	0	0	0	2	1	9.999996e-01	23	154	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.998436	0.990000	1	9.900000e-01	1
ZMYND15	84225	broad.mit.edu	37	17	4643940	4643940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4643940G>T	ENST00000433935.1	+	2	154	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15			18					TGGAGCTGTAGGGACTAGCCT	0.582000																								0							SO:0001583	missense			ENST00000433935.1	1	1	hg19	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274691	0.40194	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48201	0.86;0.82	5.28	3.27	0.37495	.	0.238103	0.29900	N	0.010903	T	0.46171	0.1379	N	0.24115	0.695	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.60117	0.863;0.869	T	0.26883	-1.0090	10	0.87932	D	0	-9.0032	7.5421	0.27744	0.0882:0.1649:0.7469:0.0	.	33;33	B4DXY5;Q9H091	.;ZMY15_HUMAN	W	33	ENSP00000391742:G33W;ENSP00000269289:G33W	ENSP00000269289:G33W	G	+	1	0	ZMYND15	4590689	0.992000	0.36948	0.003000	0.11579	0.785000	0.44390	2.762000	0.47597	0.788000	0.33755	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	1	0	0	12	225	0	41	0	1.583602e-01	1	12	0	41	2		0	0	0	0	0	2	1	9.990974e-01	12	221	0	41	2								-2.814664	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.640000	0.340000	1.000000	1.000000	0.670473	0.640000	0	4.700000e-01	9.100000e-01
HOXB1	3211	broad.mit.edu	37	17	46607055	46607055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607055G>A	ENST00000239174.6	-	2	852	c.760C>T	c.(760-762)Cga>Tga	p.R254*	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1			30					TTCATTCGTCGGTTCTGGAAC	0.602000																								0							SO:0001587	stop_gained			ENST00000239174.6	0	1	hg19	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654219	0.96724	.	.	ENSG00000120094	ENST00000239174	.	.	.	5.3	5.3	0.74995	.	0.000000	0.45867	D	0.000335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7556	0.69560	0.0:0.0:0.8551:0.1449	.	.	.	.	X	254	.	ENSP00000355140:R254X	R	-	1	2	HOXB1	43962054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.498000	0.35660	2.769000	0.95229	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3	1	0	1	213	932	0	190		0	0	0	0	190	2		0	0	0	0	0	2	1	1	211	917	0	188	2								-2.747199	1	1	121412	1	36	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXB1	3211	broad.mit.edu	37	17	46607804	46607804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607804C>T	ENST00000239174.6	-	1	555	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1			30					TCAGCATAGGCCGGTGCAAAG	0.607000																								0							SO:0001583	missense			ENST00000239174.6	1	1	hg19	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165467	0.06461	.	.	ENSG00000120094	ENST00000239174	D	0.89746	-2.56	4.71	-2.41	0.06562	.	0.641465	0.13801	N	0.361835	T	0.67674	0.2918	N	0.05078	-0.115	0.21020	N	0.999808	B	0.02656	0.0	B	0.04013	0.001	T	0.56251	-0.8010	10	0.16896	T	0.51	.	2.011	0.03488	0.2046:0.4212:0.1006:0.2737	.	155	P14653	HXB1_HUMAN	T	155	ENSP00000355140:A155T	ENSP00000355140:A155T	A	-	1	0	HOXB1	43962803	0.001000	0.12720	0.792000	0.32020	0.769000	0.43574	-0.397000	0.07269	-0.017000	0.14103	-0.899000	0.02877	GCC		TCGA-IB-7651-01A-11D-2154-08	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3	1	0	1	46	206	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	46	202	0	43	2								-3.451147	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXB3	3213	broad.mit.edu	37	17	46628044	46628044	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628044G>A	ENST00000470495.1	-	2	2395	c.948C>T	c.(946-948)ggC>ggT	p.G316G	HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Silent_p.G243G|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G			P14651	HXB3_HUMAN	homeobox B3			30					TCTGCGGGGCGCCGCAGCCTT	0.697000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000470495.1	1	1	hg19	CCDS11528.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	1	0	0	112	472	0	67	1	9.297087e-01	6	15	0	67	2		0	0	0	0	0	2	1	1	109	461	0	67	2								-3.312663	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXB3	3213	broad.mit.edu	37	17	46628302	46628302	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628302C>T	ENST00000470495.1	-	2	2137	c.690G>A	c.(688-690)cgG>cgA	p.R230R	HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB3_ENST00000485909.2_Silent_p.R98R|HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Silent_p.R157R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Silent_p.R157R			P14651	HXB3_HUMAN	homeobox B3			30					TCTTGATCTGCCGCTCGCTGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000470495.1	1	1	hg19	CCDS11528.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	1	0	0	148	708	0	183	1	9.523808e-01	3	23	0	183	2		0	0	0	0	0	2	1	1	146	697	0	181	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXB3	3213	broad.mit.edu	37	17	46628304	46628304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628304G>A	ENST00000470495.1	-	2	2135	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W			P14651	HXB3_HUMAN	homeobox B3			30					TTGATCTGCCGCTCGCTGAGG	0.612000																								0							SO:0001583	missense			ENST00000470495.1	1	1	hg19	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241850	0.58995	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	3.43	3.43	0.39272	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98479	1.0604	10	0.87932	D	0	.	10.6315	0.45538	0.0:0.0:0.6691:0.3309	.	230	P14651	HXB3_HUMAN	W	230;157;230;230;96;98;98;157;230	ENSP00000417207:R230W;ENSP00000419676:R157W;ENSP00000308252:R230W;ENSP00000420595:R230W;ENSP00000449977:R96W;ENSP00000418035:R98W;ENSP00000438747:R98W;ENSP00000418729:R157W;ENSP00000418892:R230W	ENSP00000308252:R230W	R	-	1	2	HOXB3	43983303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.259000	0.32956	1.954000	0.56735	0.644000	0.83932	CGG		TCGA-IB-7651-01A-11D-2154-08	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	0	0	0	71	791	1	183	0	6.456612e-01	1	25	1	183	2		0	0	0	0	0	2	1	1	70	778	1	182	17								-15.960740	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.980000	0.770000	1.000000	1.000000	0.951016	0.980000	1	8.700000e-01	1
HOXB3	3213	broad.mit.edu	37	17	46629754	46629754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46629754C>A	ENST00000470495.1	-	1	1530	c.83G>T	c.(82-84)gGc>gTc	p.G28V	HOXB3_ENST00000490677.1_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Intron			P14651	HXB3_HUMAN	homeobox B3			30					GACATCGAAGCCGAAGCCATT	0.652000																								0							SO:0001583	missense			ENST00000470495.1	1	1	hg19	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301237	0.40694	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	3.94	2.95	0.34219	.	0.123452	0.53938	U	0.000054	D	0.92410	0.7591	L	0.56340	1.77	0.80722	D	1	D	0.58268	0.982	P	0.53450	0.726	D	0.92047	0.5645	10	0.52906	T	0.07	.	13.8671	0.63594	0.0:0.8458:0.1542:0.0	.	28	P14651	HXB3_HUMAN	V	28	ENSP00000417207:G28V;ENSP00000308252:G28V;ENSP00000420595:G28V;ENSP00000418892:G28V	ENSP00000308252:G28V	G	-	2	0	HOXB3	43984753	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.313000	0.59160	0.986000	0.38683	-0.304000	0.09214	GGC		TCGA-IB-7651-01A-11D-2154-08	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	1	0	1	45	267	0	57	1	8.045194e-01	2	18	0	57	2		0	0	0	0	0	2	1	1	45	259	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
HOXB5	3215	broad.mit.edu	37	17	46670671	46670671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46670671C>T	ENST00000239151.5	-	1	652	c.374G>A	c.(373-375)aGc>aAc	p.S125N	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5			3					GGCGCTGGAGCTGGCTGAGGT	0.682000																								0							SO:0001583	missense			ENST00000239151.5	1	1	hg19	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751490	0.15778	.	.	ENSG00000120075	ENST00000239151	D	0.92595	-3.07	5.31	4.34	0.51931	.	0.317667	0.37393	N	0.002101	D	0.90024	0.6885	M	0.65498	2.005	0.32462	N	0.544047	B	0.09022	0.002	B	0.09377	0.004	D	0.88061	0.2794	10	0.30078	T	0.28	.	13.4791	0.61326	0.0:0.9232:0.0:0.0768	.	125	P09067	HXB5_HUMAN	N	125	ENSP00000239151:S125N	ENSP00000239151:S125N	S	-	2	0	HOXB5	44025670	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	2.164000	0.42387	1.224000	0.43551	0.455000	0.32223	AGC		TCGA-IB-7651-01A-11D-2154-08	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2	1	0	1	67	262	0	39	0	4.372458e-01	0	7	0	39	2		0	0	0	0	0	2	1	1	67	258	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXB7	3217	broad.mit.edu	37	17	46685370	46685370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46685370G>A	ENST00000239165.7	-	2	586	c.488C>T	c.(487-489)aCg>aTg	p.T163M	HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB7_ENST00000567101.2_5'UTR|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7			8					CCGCCGCCGCGTCAGGTAGCG	0.557000																								0							SO:0001583	missense			ENST00000239165.7	1	1	hg19	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837247	0.71373	.	.	ENSG00000120087	ENST00000239165	D	0.96265	-3.96	4.58	4.58	0.56647	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.065525	0.64402	D	0.000017	D	0.97914	0.9314	H	0.94503	3.545	0.80722	D	1	D	0.58268	0.982	P	0.50659	0.647	D	0.99494	1.0951	10	0.87932	D	0	.	17.1969	0.86895	0.0:0.0:1.0:0.0	.	163	P09629	HXB7_HUMAN	M	163	ENSP00000239165:T163M	ENSP00000239165:T163M	T	-	2	0	HOXB7	44040369	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	7.795000	0.85887	2.357000	0.79964	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3	1	0	1	68	822	1	153	1	7.457268e-01	15	35	1	153	3		0	0	0	0	0	2	1	1	66	804	1	152	19								-14.845960	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.910000	0.710000	1.000000	1.000000	0.908061	0.910000	1	8.000000e-01	1
HOXB8	3218	broad.mit.edu	37	17	46691677	46691677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691677C>T	ENST00000239144.4	-	1	624	c.390G>A	c.(388-390)tcG>tcA	p.S130S	HOXB8_ENST00000576562.1_Silent_p.S130S|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8			11					GCTGTGTGGGCGACGGGCTCT	0.726000																								0							SO:0001819	synonymous_variant			ENST00000239144.4	1	1	hg19	CCDS11533.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3	1	0	0	25	104	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.999999e-01	25	103	0	24	2								-20.000000	1	1	119956	1	27	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
HOXB8	3218	broad.mit.edu	37	17	46691781	46691781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691781G>T	ENST00000239144.4	-	1	520	c.286C>A	c.(286-288)Cta>Ata	p.L96I	HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8			11					GCACCGAATAGGCTCTGGCGT	0.692000																								0							SO:0001583	missense			ENST00000239144.4	1	1	hg19	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	13.25	2.181819	0.38511	.	.	ENSG00000120068	ENST00000239144	T	0.42900	0.96	2.97	2.97	0.34412	.	0.000000	0.50627	U	0.000116	T	0.47284	0.1437	L	0.31664	0.95	0.44635	D	0.997615	D	0.58268	0.982	D	0.67548	0.952	T	0.30995	-0.9959	10	0.19147	T	0.46	.	14.3989	0.67029	0.0:0.0:1.0:0.0	.	96	P17481	HXB8_HUMAN	I	96	ENSP00000239144:L96I	ENSP00000239144:L96I	L	-	1	2	HOXB8	44046780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.894000	0.63206	1.685000	0.51034	0.290000	0.19541	CTA		TCGA-IB-7651-01A-11D-2154-08	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3	1	0	0	67	320	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	67	314	0	80	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXB9	3219	broad.mit.edu	37	17	46703204	46703204	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46703204C>A	ENST00000311177.5	-	1	635	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HOXB7_ENST00000567101.2_Intron|HOXB-AS4_ENST00000480386.1_RNA|HOXB9_ENST00000550387.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9			12					GGCCTCCCTGCCCGCCGAAGT	0.602000																								0							SO:0001583	missense			ENST00000311177.5	1	1	hg19	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390960	0.42410	.	.	ENSG00000170689	ENST00000311177	D	0.93712	-3.27	4.74	4.74	0.60224	Hox9, N-terminal activation domain (1);	0.123056	0.50627	D	0.000110	D	0.92645	0.7663	M	0.68952	2.095	0.80722	D	1	P	0.38048	0.616	B	0.42163	0.378	D	0.91624	0.5313	10	0.33940	T	0.23	.	13.9224	0.63940	0.0:0.7195:0.2805:0.0	.	143	P17482	HXB9_HUMAN	V	143	ENSP00000309439:G143V	ENSP00000309439:G143V	G	-	2	0	HOXB9	44058203	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.691000	0.25467	2.323000	0.78572	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2	1	0	0	58	252	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	1	52	249	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTLL6	284076	broad.mit.edu	37	17	46868909	46868909	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46868909A>G	ENST00000393382.3	-	9	1196	c.1055T>C	c.(1054-1056)aTa>aCa	p.I352T	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6			18					ATCCCTCCATATCTGCTCCAC	0.547000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000393382.3	1	1	hg19	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896390	0.72639	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.77	5.77	0.91146	.	0.271733	0.34110	N	0.004252	T	0.77274	0.4106	M	0.67700	2.07	0.40567	D	0.981267	P;D;D	0.71674	0.749;0.998;0.986	P;D;P	0.72625	0.657;0.978;0.76	T	0.80141	-0.1506	9	0.72032	D	0.01	.	15.3639	0.74503	1.0:0.0:0.0:0.0	.	304;105;45	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	352;45;30;304	.	ENSP00000302547:I45T	I	-	2	0	TTLL6	44223908	1.000000	0.71417	0.849000	0.33467	0.363000	0.29612	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	ATA		TCGA-IB-7651-01A-11D-2154-08	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	1	0	1	79	275	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	78	273	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VMO1	284013	broad.mit.edu	37	17	4689283	4689283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4689283G>A	ENST00000328739.5	-	2	339	c.260C>T	c.(259-261)gCg>gTg	p.A87V	VMO1_ENST00000416307.2_Missense_Mutation_p.A87V|VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|GLTPD2_ENST00000331264.7_5'Flank|VMO1_ENST00000354194.4_Intron	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)			11					GTTCCCGCGCGCGCAGTGCAG	0.632000																								0							SO:0001583	missense			ENST00000328739.5	1	1	hg19	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	9.086	1.000625	0.19121	2.27E-4	0.0	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000441199	T;T;T	0.44482	0.92;0.92;0.92	4.58	3.61	0.41365	.	0.887861	0.09976	N	0.731644	T	0.28896	0.0717	L	0.29908	0.895	0.42351	D	0.992372	P;B;B	0.35807	0.522;0.019;0.142	B;B;B	0.30572	0.117;0.008;0.015	T	0.04029	-1.0983	10	0.34782	T	0.22	-5.9681	8.7249	0.34463	0.1042:0.0:0.8958:0.0	.	87;87;87	C9JQ15;E9PAU9;Q7Z5L0	.;.;VMO1_HUMAN	V	87	ENSP00000328397:A87V;ENSP00000390450:A87V;ENSP00000408166:A87V	ENSP00000328397:A87V	A	-	2	0	VMO1	4636023	0.001000	0.12720	0.010000	0.14722	0.009000	0.06853	0.885000	0.28227	1.161000	0.42604	-0.219000	0.12488	GCG		TCGA-IB-7651-01A-11D-2154-08	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	1	0	1	28	199	0	54	0	9.999807e-01	0	125	0	54	2		0	0	0	0	0	2	1	1	27	194	0	53	2								-3.319429	1	1	121412	2	31	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.998625	0.990000	1	9.900000e-01	1
IGF2BP1	10642	broad.mit.edu	37	17	47075176	47075176	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47075176G>A	ENST00000290341.3	+	1	403	c.69G>A	c.(67-69)gcG>gcA	p.A23A	RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1			31					AAGTGTTTGCGGAGCACAAGA	0.602000													Esophageal Squamous(198;1041 2123 8248 37119 38268)											0							SO:0001819	synonymous_variant			ENST00000290341.3	1	1	hg19	CCDS11543.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	1	140	485	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	135	477	0	109	2								-3.729650	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF2BP1	10642	broad.mit.edu	37	17	47115652	47115652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115652G>A	ENST00000290341.3	+	6	858	c.524G>A	c.(523-525)gGt>gAt	p.G175D	IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1			31					GGCTCTCGGGGTCAGCCCCGC	0.652000													Esophageal Squamous(198;1041 2123 8248 37119 38268)											0							SO:0001583	missense			ENST00000290341.3	1	1	hg19	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785170	0.90282	.	.	ENSG00000159217	ENST00000290341	T	0.21361	2.01	5.55	5.55	0.83447	.	0.061482	0.64402	D	0.000005	T	0.32406	0.0828	M	0.66939	2.045	0.80722	D	1	P	0.48640	0.913	P	0.48030	0.564	T	0.04333	-1.0959	10	0.15952	T	0.53	-6.896	19.0998	0.93269	0.0:0.0:1.0:0.0	.	175	Q9NZI8	IF2B1_HUMAN	D	175	ENSP00000290341:G175D	ENSP00000290341:G175D	G	+	2	0	IGF2BP1	44470651	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.565000	0.73974	2.585000	0.87301	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	1	74	292	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	74	285	0	50	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF2BP1	10642	broad.mit.edu	37	17	47115672	47115672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115672C>T	ENST00000290341.3	+	6	878	c.544C>T	c.(544-546)Cct>Tct	p.P182S	IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1			31					CCAGGGCTCACCTGTGGCAGC	0.652000													Esophageal Squamous(198;1041 2123 8248 37119 38268)											0							SO:0001583	missense			ENST00000290341.3	1	1	hg19	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295090	0.60086	.	.	ENSG00000159217	ENST00000290341	T	0.20463	2.07	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.42744	1.35	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.08953	-1.0697	10	0.10377	T	0.69	-6.9982	19.0998	0.93269	0.0:1.0:0.0:0.0	.	182	Q9NZI8	IF2B1_HUMAN	S	182	ENSP00000290341:P182S	ENSP00000290341:P182S	P	+	1	0	IGF2BP1	44470671	1.000000	0.71417	0.693000	0.30195	0.993000	0.82548	6.029000	0.70895	2.585000	0.87301	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	0	59	236	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	56	232	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF2BP1	10642	broad.mit.edu	37	17	47123649	47123649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47123649G>A	ENST00000290341.3	+	14	1889	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1			31					TTTGACGGCAGCTGAGGTGGT	0.547000													Esophageal Squamous(198;1041 2123 8248 37119 38268)											0							SO:0001583	missense			ENST00000290341.3	1	1	hg19	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680623	0.96774	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.54071	0.59;0.59	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.81914	0.995;0.82	T	0.77747	-0.2472	10	0.66056	D	0.02	-13.076	19.5069	0.95121	0.0:0.0:1.0:0.0	.	380;519	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	519;380	ENSP00000290341:A519T;ENSP00000389135:A380T	ENSP00000290341:A519T	A	+	1	0	IGF2BP1	44478648	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	9.614000	0.98353	2.941000	0.99782	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	1	60	341	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	60	332	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF2BP1	10642	broad.mit.edu	37	17	47126761	47126761	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47126761G>T	ENST00000290341.3	+	15	2023	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H|AC105030.1_ENST00000578722.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1			31					TTAAGCAGCAGCATCAGAAGG	0.577000													Esophageal Squamous(198;1041 2123 8248 37119 38268)											0							SO:0001583	missense			ENST00000290341.3	1	1	hg19	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127641	0.20959	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33654	2.14;1.4	5.0	4.03	0.46877	.	0.139400	0.49916	D	0.000134	T	0.30417	0.0764	L	0.47716	1.5	0.48511	D	0.999665	P;B	0.46277	0.875;0.005	B;B	0.41510	0.359;0.009	T	0.04153	-1.0973	10	0.26408	T	0.33	-15.2867	10.7342	0.46115	0.0899:0.0:0.9101:0.0	.	424;563	C9JT33;Q9NZI8	.;IF2B1_HUMAN	H	563;424	ENSP00000290341:Q563H;ENSP00000389135:Q424H	ENSP00000290341:Q563H	Q	+	3	2	IGF2BP1	44481760	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.254000	0.43214	1.451000	0.47736	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	1	0	0	14	145	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.997898e-01	14	144	0	41	2								-19.586710	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.610000	1.000000	1.000000	0.936190	0.990000	1	8.200000e-01	1
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2			31				Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567000																								0							SO:0001583	missense			ENST00000263088.6	1	1	hg19	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		TCGA-IB-7651-01A-11D-2154-08	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	1	0	0	37	443	1	76	1	6.071438e-01	15	66	1	76	6		0	0	0	0	0	2	1	9.914814e-01	37	433	1	75	20								-2.806910	1	1	121412	1	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.930000	0.660000	1.000000	1.000000	0.909381	0.930000	1	7.900000e-01	1
PLD2	5338	broad.mit.edu	37	17	4720350	4720350	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4720350G>A	ENST00000263088.6	+	16	1832	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	PLD2_ENST00000572940.1_Splice_Site_p.K567K	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2			31				Choline(DB00122)	ACTTCACCAAGGTGTTCATTC	0.647000																								0							SO:0001630	splice_region_variant			ENST00000263088.6	1	0	hg19	CCDS11057.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	1	0	1	131	511	0	108	0	9.999999e-01	0	89	0	108	2		0	0	0	0	0	2	1	1	127	504	0	107	2								-3.637521	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLD2	5338	broad.mit.edu	37	17	4725101	4725101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4725101G>A	ENST00000263088.6	+	24	2607	c.2476G>A	c.(2476-2478)Gca>Aca	p.A826T	PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2			31				Choline(DB00122)	GATTCTTGGAGCAAATACCCG	0.488000																								0							SO:0001583	missense			ENST00000263088.6	1	1	hg19	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	g	12.89	2.073206	0.36566	.	.	ENSG00000129219	ENST00000263088	T	0.07021	3.23	4.84	4.84	0.62591	.	0.058029	0.64402	D	0.000002	T	0.12263	0.0298	M	0.70595	2.14	0.46874	D	0.999236	B;B	0.20550	0.046;0.017	B;B	0.22753	0.041;0.019	T	0.03463	-1.1034	10	0.27082	T	0.32	-14.3174	13.3112	0.60380	0.0:0.0:1.0:0.0	.	815;826	O14939-2;O14939	.;PLD2_HUMAN	T	826	ENSP00000263088:A826T	ENSP00000263088:A826T	A	+	1	0	PLD2	4672067	1.000000	0.71417	0.992000	0.48379	0.541000	0.35023	4.468000	0.60162	2.532000	0.85374	0.457000	0.33378	GCA		TCGA-IB-7651-01A-11D-2154-08	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	1	0	1	114	532	0	149	1	9.999997e-01	42	57	0	149	2		0	0	0	0	0	2	1	1	111	514	0	149	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF652	22834	broad.mit.edu	37	17	47376251	47376251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47376251T>G	ENST00000362063.2	-	6	1663	c.1345A>C	c.(1345-1347)Agc>Cgc	p.S449R	ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652			20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		CTGGTGAAGCTTTTGCCACAG	0.463000																								0							SO:0001583	missense			ENST00000362063.2	1	1	hg19	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801187	0.70567	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08193	3.12;3.12	4.81	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.041428	0.85682	D	0.000000	T	0.12178	0.0296	N	0.25992	0.78	0.49915	D	0.999832	D	0.56746	0.977	P	0.59357	0.856	T	0.03566	-1.1024	10	0.51188	T	0.08	-15.5289	8.741	0.34558	0.0:0.157:0.0:0.843	.	449	Q9Y2D9	ZN652_HUMAN	R	449	ENSP00000354686:S449R;ENSP00000416305:S449R	ENSP00000354686:S449R	S	-	1	0	ZNF652	44731250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.847000	0.86896	0.351000	0.24027	0.402000	0.26972	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	1	0	1	59	197	0	44	1	9.966472e-01	9	23	0	44	2		0	0	0	0	0	2	1	1	56	191	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF652	22834	broad.mit.edu	37	17	47394317	47394317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394317G>A	ENST00000362063.2	-	2	1089	c.771C>T	c.(769-771)cgC>cgT	p.R257R	ZNF652_ENST00000430262.2_Silent_p.R257R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652			20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		CCAGGTACCAGCGAGTGTTAA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000362063.2	1	1	hg19	CCDS32677.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	0	0	1	101	391	1	83	1	9.219877e-01	10	16	1	83	3		0	0	0	0	0	2	1	1	101	382	0	81	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF652	22834	broad.mit.edu	37	17	47394342	47394342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394342T>G	ENST00000362063.2	-	2	1064	c.746A>C	c.(745-747)aAg>aCg	p.K249T	ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652			20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		CCTGGGGCACTTCTCACAGGT	0.488000																								0							SO:0001583	missense			ENST00000362063.2	1	1	hg19	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833468	0.71258	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.52295	0.67;0.67	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	N	0.11789	0.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60895	-0.7172	10	0.66056	D	0.02	-21.598	15.4338	0.75125	0.0:0.0:0.0:1.0	.	249	Q9Y2D9	ZN652_HUMAN	T	249	ENSP00000354686:K249T;ENSP00000416305:K249T	ENSP00000354686:K249T	K	-	2	0	ZNF652	44749341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.132000	0.65825	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	1	0	0	44	417	0	78	1	6.371828e-01	5	17	0	78	2		0	0	0	0	0	2	1	1	44	408	0	78	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.986022	0.990000	1	9.800000e-01	1
ZNF652	22834	broad.mit.edu	37	17	47394623	47394623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394623C>A	ENST00000362063.2	-	2	783	c.465G>T	c.(463-465)gaG>gaT	p.E155D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E155D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652			20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		CACTCTCTTCCTCTTCCTCCT	0.413000																								0							SO:0001583	missense			ENST00000362063.2	0	1	hg19	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454423	0.12283	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98947	-5.26;-5.26	5.22	3.17	0.36434	.	0.261665	0.44688	N	0.000430	D	0.94673	0.8282	L	0.29908	0.895	0.34843	D	0.740911	B	0.02656	0.0	B	0.06405	0.002	D	0.91675	0.5353	10	0.15499	T	0.54	-18.6572	5.9346	0.19158	0.1395:0.6514:0.1349:0.0741	.	155	Q9Y2D9	ZN652_HUMAN	D	155	ENSP00000354686:E155D;ENSP00000416305:E155D	ENSP00000354686:E155D	E	-	3	2	ZNF652	44749622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.287000	0.33284	1.404000	0.46819	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	0	0	0	19	1041	0	172	0	6.036725e-02	0	21	0	172	2		0	0	0	0	0	2	1	9.999865e-01	18	1006	0	169	2								-2.153755	0	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.210000	0.130000	1.000000	0.210000	0.285364	0.210000	0	1.700000e-01	2.900000e-01
NGFR	4804	broad.mit.edu	37	17	47590307	47590307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47590307G>A	ENST00000172229.3	+	6	1345	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	NGFR_ENST00000504201.1_Missense_Mutation_p.R313H|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor			17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)				GCCCTGCGCCGCATCCAGCGA	0.701000																								0							SO:0001583	missense			ENST00000172229.3	1	1	hg19	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683884	0.88639	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.85484	-1.99;-1.99	4.55	3.56	0.40772	Death (3);DEATH-like (2);	0.583643	0.16384	N	0.216771	D	0.83820	0.5337	L	0.33485	1.01	0.38279	D	0.942384	D	0.71674	0.998	P	0.61533	0.89	T	0.82532	-0.0410	10	0.42905	T	0.14	-40.3266	5.5062	0.16856	0.2816:0.0:0.7184:0.0	.	407	P08138	TNR16_HUMAN	H	407;313	ENSP00000172229:R407H;ENSP00000421731:R313H	ENSP00000172229:R407H	R	+	2	0	NGFR	44945306	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.814000	0.48010	2.233000	0.73108	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1	1	0	0	26	149	0	20	0	1.714787e-01	0	5	0	20	2		0	0	0	0	0	2	1	1	26	148	0	18	2								-20.000000	1	1	120716	9	33	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999833	0.990000	1	9.900000e-01	1
FAM117A	81558	broad.mit.edu	37	17	47841426	47841426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47841426G>A	ENST00000240364.2	-	1	103	c.24C>T	c.(22-24)ggC>ggT	p.G8G	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A			17					ctccgcctctgccgcccgctg	0.801000																								0							SO:0001819	synonymous_variant			ENST00000240364.2	0	1	hg19	CCDS11553.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	0	0	0	7	62	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.782865e-01	7	58	0	11	2								-16.198880	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.560000	1.000000	1.000000	0.944666	0.990000	1	8.500000e-01	1
MINK1	50488	broad.mit.edu	37	17	4796848	4796848	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4796848C>T	ENST00000355280.6	+	21	2716	c.2520C>T	c.(2518-2520)ggC>ggT	p.G840G	MINK1_ENST00000453408.3_Silent_p.G820G|MINK1_ENST00000347992.7_Silent_p.G811G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1			6					AGGAGGAAGGCGAAGGCGGGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000355280.6	1	1	hg19	CCDS45588.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	1	0	1	47	174	0	48	1	1	28	198	0	48	2		0	0	0	0	0	2	1	1	47	170	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNE	1145	broad.mit.edu	37	17	4804099	4804099	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4804099C>T	ENST00000293780.4	-	8	916	c.906G>A	c.(904-906)ccG>ccA	p.P302P	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)			12				Galantamine(DB00674)	TGCCCAGGAGCGGCACGCTCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000293780.4	1	1	hg19	CCDS11058.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3	1	0	1	30	128	0	28	1	9.632987e-01	2	24	0	28	2		0	0	0	0	0	2	1	1	30	127	0	28	2								-3.368610	1	1	121372	2	30	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ITGA3	3675	broad.mit.edu	37	17	48156190	48156190	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48156190T>C	ENST00000320031.8	+	19	2630	c.2300T>C	c.(2299-2301)gTa>gCa	p.V767A	ITGA3_ENST00000007722.7_Missense_Mutation_p.V767A	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)			31					ACCCCTAGGGTAAATCACCGG	0.557000																								0							SO:0001583	missense			ENST00000320031.8	1	1	hg19	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685036	0.29872	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.52057	0.68;0.68	4.53	3.4	0.38934	Integrin alpha-2 (1);	0.842530	0.10865	N	0.625632	T	0.36991	0.0987	L	0.37697	1.125	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.12156	0.007;0.007	T	0.09596	-1.0667	10	0.34782	T	0.22	.	8.3475	0.32281	0.1758:0.0:0.0:0.8242	.	767;767	P26006-1;P26006	.;ITA3_HUMAN	A	767;753;767	ENSP00000007722:V767A;ENSP00000315190:V767A	ENSP00000007722:V767A	V	+	2	0	ITGA3	45511189	0.998000	0.40836	0.992000	0.48379	0.805000	0.45488	1.301000	0.33447	0.830000	0.34757	0.402000	0.26972	GTA		TCGA-IB-7651-01A-11D-2154-08	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	0	0	0	21	626	0	104	1	9.999743e-01	30	482	0	104	2		0	0	0	0	0	2	1	9.999969e-01	20	614	0	102	2								-3.654503	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.390000	0.240000	1.000000	0.380000	0.447904	0.390000	0	3.100000e-01	5.200000e-01
ITGA3	3675	broad.mit.edu	37	17	48158697	48158697	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48158697C>A	ENST00000320031.8	+	23	3174	c.2844C>A	c.(2842-2844)gtC>gtA	p.V948V	ITGA3_ENST00000007722.7_Silent_p.V948V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)			31					TTGACCGAGTCCGGGTAAATG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000320031.8	0	1	hg19	CCDS11558.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	0	0	1	7	48	0	14	1	1	312	493	0	14	2		0	0	0	0	0	2	1	9.791784e-01	7	45	0	14	2								-13.705840	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.690000	1.000000	1.000000	0.975916	0.990000	1	9.900000e-01	1
PDK2	5164	broad.mit.edu	37	17	48172856	48172856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48172856C>T	ENST00000503176.1	+	1	218	c.57C>T	c.(55-57)taC>taT	p.Y19Y	PDK2_ENST00000007708.3_Intron	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2			20					CGCCCAAGTACATAGAGCACT	0.677000									Autosomal Dominant Polycystic Kidney Disease															0							SO:0001819	synonymous_variant	Familial Cancer Database	ADPKD	ENST00000503176.1	0	1	hg19	CCDS11559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	1	0	0	17	64	0	10	1	9.999973e-01	26	72	0	10	2		0	0	0	0	0	2	1	9.999814e-01	17	63	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
PDK2	5164	broad.mit.edu	37	17	48185696	48185696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48185696C>T	ENST00000503176.1	+	8	937	c.776C>T	c.(775-777)gCg>gTg	p.A259V	PDK2_ENST00000007708.3_Missense_Mutation_p.A195V	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2			20					GCCATGAGGGCGACTGTGGAA	0.587000									Autosomal Dominant Polycystic Kidney Disease															0							SO:0001583	missense	Familial Cancer Database	ADPKD	ENST00000503176.1	1	1	hg19	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330950	0.95733	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614	T;T;T	0.58210	0.35;0.35;0.35	4.61	4.61	0.57282	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.124501	0.53938	D	0.000055	D	0.82582	0.5068	H	0.99011	4.4	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	D	0.90403	0.4404	10	0.87932	D	0	-6.9618	16.633	0.85039	0.0:1.0:0.0:0.0	.	259	Q15119	PDK2_HUMAN	V	195;259;195	ENSP00000007708:A195V;ENSP00000420927:A259V;ENSP00000425265:A195V	ENSP00000007708:A195V	A	+	2	0	PDK2	45540695	1.000000	0.71417	0.471000	0.27229	0.867000	0.49689	7.734000	0.84928	2.289000	0.77006	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	1	0	1	32	113	0	39	1	9.999998e-01	15	79	0	39	2		0	0	0	0	0	2	1	1	32	113	0	39	2								-20.000000	1	1	121412	2	27	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDK2	5164	broad.mit.edu	37	17	48187434	48187434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48187434G>T	ENST00000503176.1	+	11	1358	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	SAMD14_ENST00000330175.4_3'UTR|PDK2_ENST00000007708.3_Missense_Mutation_p.K335N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2			20					CGGAGCCCAAGAACACGTCCA	0.667000									Autosomal Dominant Polycystic Kidney Disease															0							SO:0001583	missense	Familial Cancer Database	ADPKD	ENST00000503176.1	0	1	hg19	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076449	0.55753	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.48522	0.82;0.81	4.46	4.46	0.54185	.	0.244342	0.34507	N	0.003917	T	0.44030	0.1274	L	0.48642	1.525	0.80722	D	1	B	0.23316	0.083	B	0.19666	0.026	T	0.46665	-0.9175	10	0.66056	D	0.02	-22.2114	16.2651	0.82574	0.0:0.0:1.0:0.0	.	399	Q15119	PDK2_HUMAN	N	335;399	ENSP00000007708:K335N;ENSP00000420927:K399N	ENSP00000007708:K335N	K	+	3	2	PDK2	45542433	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	6.400000	0.73252	2.203000	0.70933	0.462000	0.41574	AAG		TCGA-IB-7651-01A-11D-2154-08	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	1	0	1	13	63	0	12	1	9.999490e-01	18	79	0	12	2		0	0	0	0	0	2	1	9.996674e-01	13	62	0	12	2								-19.999650	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998908	0.990000	1	9.900000e-01	1
SAMD14	201191	broad.mit.edu	37	17	48193388	48193388	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48193388C>T	ENST00000330175.4	-	5	883	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14			15					GAACTTTCGGCGAGTCTTCTT	0.627000																								0							SO:0001583	missense			ENST00000330175.4	1	1	hg19	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323128	0.60634	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.17	5.17	0.71159	.	0.100684	0.35407	N	0.003229	T	0.71937	0.3399	L	0.54323	1.7	0.35594	D	0.807347	D;D	0.89917	0.999;1.0	D;D	0.83275	0.912;0.996	T	0.79773	-0.1662	9	0.87932	D	0	-17.7595	15.5892	0.76512	0.0:1.0:0.0:0.0	.	189;189	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	189;201;189	.	ENSP00000285206:R201H	R	-	2	0	SAMD14	45548387	1.000000	0.71417	0.995000	0.50966	0.258000	0.26162	2.982000	0.49337	2.417000	0.82017	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	1	0	1	44	208	0	45	0	3.593610e-01	1	6	0	45	2		0	0	0	0	0	2	1	1	44	196	0	42	2								-3.399242	1	1	121410	4	36	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R9B	84687	broad.mit.edu	37	17	48216883	48216883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48216883C>T	ENST00000316878.6	-	8	1926	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B			8					ACCTCGATGGCCATCTCACCA	0.622000																								0							SO:0001583	missense			ENST00000316878.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	149	587	0	157	1	1	44	260	0	157	2		0	0	0	0	0	2	1	1	145	579	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R9B	84687	broad.mit.edu	37	17	48218701	48218701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48218701T>G	ENST00000316878.6	-	6	1659	c.1657A>C	c.(1657-1659)Aca>Cca	p.T553P	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B			8					ACCAGACTTGTTCCATCCACC	0.627000																								0							SO:0001583	missense			ENST00000316878.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	12	35	0	12	1	1	31	185	0	12	2		0	0	0	0	0	2	1	9.993821e-01	11	34	0	12	2								-12.259140	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999830	0.990000	1	9.900000e-01	1
SGCA	6442	broad.mit.edu	37	17	48252742	48252742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48252742C>T	ENST00000262018.3	+	9	1144	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	HILS1_ENST00000504307.1_RNA|SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|SGCA_ENST00000543315.1_Missense_Mutation_p.R246W|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)			14					CACAGGTGAGCGGCTGCCTCC	0.652000																								0							SO:0001583	missense			ENST00000262018.3	1	1	hg19	CCDS32679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.17|14.17	2.454366|2.454366	0.43634|0.43634	0.0|0.0	1.16E-4|1.16E-4	ENSG00000108823|ENSG00000108823	ENST00000504073|ENST00000344627;ENST00000262018;ENST00000543315	.|D;D;D	.|0.98192	.|-4.78;-4.78;-4.78	4.63|4.63	3.57|3.57	0.40892|0.40892	.|.	.|0.131881	.|0.46145	.|D	.|0.000315	D|D	0.97620|0.97620	0.9220|0.9220	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.56916	.|0.809;0.786	D|D	0.96109|0.96109	0.9075|0.9075	5|10	.|0.37606	.|T	.|0.19	-25.8703|-25.8703	10.1205|10.1205	0.42618|0.42618	0.3714:0.6285:0.0:0.0|0.3714:0.6285:0.0:0.0	.|.	.|246;370	.|Q16586-2;Q16586	.|.;SGCA_HUMAN	V|W	142|246;370;246	.|ENSP00000345522:R246W;ENSP00000262018:R370W;ENSP00000444539:R246W	.|ENSP00000262018:R370W	A|R	+|+	2|1	0|2	SGCA|SGCA	45607741|45607741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	1.386000|1.386000	0.34419|0.34419	2.279000|2.279000	0.76181|0.76181	0.462000|0.462000	0.41574|0.41574	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	1	0	1	32	141	0	29	0	8.455953e-01	0	17	0	29	2		0	0	0	0	0	2	1	1	32	138	0	28	2								-3.497388	1	1	121384	1	33	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
COL1A1	1277	broad.mit.edu	37	17	48263816	48263816	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48263816G>A	ENST00000225964.5	-	49	3985	c.3867C>T	c.(3865-3867)gtC>gtT	p.V1289V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1		COL1A1/PDGFB(429)	71				Collagenase(DB00048)	TGTTGCAGAAGACTTTGATGG	0.567000			T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta								Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0							SO:0001819	synonymous_variant			ENST00000225964.5	1	1	hg19	CCDS11561.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	1	0	1	117	435	0	119	1	1	11	7889	0	119	2		0	0	0	0	0	2	1	1	111	422	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL1A1	1277	broad.mit.edu	37	17	48264045	48264045	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264045C>T	ENST00000225964.5	-	48	3888	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1		COL1A1/PDGFB(429)	71				Collagenase(DB00048)	ACGGCAGGTGCGGGCGGGGTT	0.647000			T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta								Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0							SO:0001583	missense			ENST00000225964.5	1	0	hg19	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.754969	0.69648	.	.	ENSG00000108821	ENST00000225964	T	0.79352	-1.26	3.93	3.93	0.45458	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	U	0.000001	D	0.93096	0.7802	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95957	0.8959	10	0.87932	D	0	.	14.8661	0.70416	0.0:1.0:0.0:0.0	.	1257	P02452	CO1A1_HUMAN	H	1257	ENSP00000225964:R1257H	ENSP00000225964:R1257H	R	-	2	0	COL1A1	45619044	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.508000	0.81686	2.005000	0.58758	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	1	0	0	36	775	0	143	1	1	5	7651	0	143	2		0	0	0	0	0	2	1	1	32	736	0	127	2								-1.835721	0	1	121380	24	42	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.530000	0.370000	1.000000	0.520000	0.574343	0.530000	0	4.500000e-01	6.600000e-01
COL1A1	1277	broad.mit.edu	37	17	48264896	48264896	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264896G>T	ENST00000225964.5	-	46	3490	c.3372C>A	c.(3370-3372)ggC>ggA	p.G1124G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1		COL1A1/PDGFB(429)	71				Collagenase(DB00048)	CACCAGGAGAGCCCTGAAGGA	0.587000			T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta								Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0							SO:0001819	synonymous_variant			ENST00000225964.5	1	1	hg19	CCDS11561.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	1	0	1	28	133	0	44	1	1	13	6744	0	44	2		0	0	0	0	0	2	1	1	28	132	0	44	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
SLC25A11	8402	broad.mit.edu	37	17	4841116	4841116	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841116G>A	ENST00000225665.7	-	8	1205	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.L238L|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000576229.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11			10					TGGGGGCCCAGGCGGGCATAG	0.607000													Esophageal Squamous(144;1178 2388 18010 48797)											0							SO:0001819	synonymous_variant			ENST00000225665.7	1	1	hg19	CCDS11059.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	1	0	1	104	442	0	103	1	1	98	263	0	103	2		0	0	0	0	0	2	1	1	102	433	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A11	8402	broad.mit.edu	37	17	4841499	4841499	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841499G>A	ENST00000225665.7	-	6	1027	c.687C>T	c.(685-687)agC>agT	p.S229S	RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.S178S|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000576229.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11			10					TGACAAGACCGCTGATCATGC	0.622000													Esophageal Squamous(144;1178 2388 18010 48797)											0							SO:0001819	synonymous_variant			ENST00000225665.7	0	1	hg19	CCDS11059.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	0	0	0	6	231	0	33	1	9.926067e-01	15	351	0	33	2		0	0	0	0	0	2	1	9.641434e-01	7	227	0	32	2								-7.322324	1	0	121408	9	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.340000	0.130000	1.000000	0.290000	0.410282	0.340000	0	2.100000e-01	5.500000e-01
XYLT2	64132	broad.mit.edu	37	17	48434506	48434506	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48434506C>T	ENST00000017003.2	+	9	1883	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II			12	Breast(11;7.18e-19)				GGCGGTGCAGCCCTCAGCCCA	0.642000																								0							SO:0001583	missense			ENST00000017003.2	1	1	hg19	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259545	0.05791	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.07216	3.75;3.21	4.92	2.94	0.34122	.	0.530450	0.21212	N	0.078289	T	0.02727	0.0082	N	0.03608	-0.345	0.29134	N	0.879486	B	0.02656	0.0	B	0.04013	0.001	T	0.42050	-0.9474	10	0.08381	T	0.77	-11.76	4.6835	0.12747	0.2167:0.6042:0.0:0.1791	.	612	Q9H1B5	XYLT2_HUMAN	S	612	ENSP00000017003:P612S;ENSP00000426501:P612S	ENSP00000017003:P612S	P	+	1	0	XYLT2	45789505	0.986000	0.35501	1.000000	0.80357	0.930000	0.56654	1.831000	0.39141	0.681000	0.31386	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	1	0	1	39	183	0	43	1	9.999996e-01	23	90	0	43	2		0	0	0	0	0	2	1	1	38	183	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XYLT2	64132	broad.mit.edu	37	17	48437340	48437340	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48437340C>T	ENST00000017003.2	+	11	2335	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II			12	Breast(11;7.18e-19)				ATGATGCCAGCTGGCTGCACG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000017003.2	0	1	hg19	CCDS11563.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	0	0	1	15	68	0	18	1	9.999905e-01	18	88	0	18	2		0	0	0	0	0	2	1	9.999249e-01	15	68	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999611	0.990000	1	9.900000e-01	1
LRRC59	55379	broad.mit.edu	37	17	48474609	48474609	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48474609G>T	ENST00000225972.7	-	1	305	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I|RP1-117B12.4_ENST00000511627.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59			13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		AGGTCGCTGAGGCTCAGGTCC	0.697000											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000225972.7	1	1	hg19	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769440	0.90020	.	.	ENSG00000108829	ENST00000225972	T	0.02421	4.3	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.15975	0.35	0.58432	D	0.999996	D	0.67145	0.996	D	0.70016	0.967	T	0.61471	-0.7056	10	0.23302	T	0.38	.	14.2164	0.65795	0.0715:0.0:0.9285:0.0	.	24	Q96AG4	LRC59_HUMAN	I	24	ENSP00000225972:L24I	ENSP00000225972:L24I	L	-	1	0	LRRC59	45829608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.457000	0.73505	2.808000	0.96608	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	1	0	1	87	403	0	87	1	1	152	360	0	87	2		0	0	0	0	0	2	1	1	87	399	0	86	2								-3.069637	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSF2	80221	broad.mit.edu	37	17	48539874	48539874	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48539874G>T	ENST00000300441.4	+	6	824	c.720G>T	c.(718-720)caG>caT	p.Q240H	ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000427954.2_Missense_Mutation_p.Q265H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2			13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		GCACACGGCAGCATCTGGACC	0.617000																								0							SO:0001583	missense			ENST00000300441.4	1	1	hg19	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340395	0.41498	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.39592	1.21;1.26;1.07;1.22;1.33	5.57	4.6	0.57074	AMP-dependent synthetase/ligase (1);	0.569399	0.18669	N	0.134492	T	0.58163	0.2103	L	0.50847	1.595	0.40560	D	0.981207	D;D;B;D	0.89917	1.0;1.0;0.074;0.999	D;D;B;D	0.77004	0.989;0.989;0.149;0.983	T	0.57894	-0.7732	10	0.44086	T	0.13	-21.777	14.4944	0.67674	0.0707:0.0:0.9293:0.0	.	227;265;197;240	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	H	240;80;197;265;227	ENSP00000300441:Q240H;ENSP00000437987:Q80H;ENSP00000425964:Q197H;ENSP00000401831:Q265H;ENSP00000421884:Q227H	ENSP00000300441:Q240H	Q	+	3	2	ACSF2	45894873	1.000000	0.71417	0.957000	0.39632	0.843000	0.47879	2.175000	0.42491	1.354000	0.45846	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	1	0	1	74	341	0	74	1	9.997733e-01	11	48	0	74	2		0	0	0	0	0	2	1	1	71	330	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHAD	1101	broad.mit.edu	37	17	48545740	48545740	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48545740C>T	ENST00000508540.1	-	1	587	c.435G>A	c.(433-435)ccG>ccA	p.P145P	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000506085.1_3'UTR|CHAD_ENST00000258969.4_Silent_p.P145P	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin			15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		GGTTGACCAGCGGGGAGAGCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000508540.1	1	1	hg19	CCDS11568.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	1	0	0	60	316	0	59	0	2.639918e-02	0	2	0	59	2		0	0	0	0	0	2	1	1	58	313	0	57	2								-3.232951	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHAD	1101	broad.mit.edu	37	17	48546111	48546111	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48546111C>T	ENST00000508540.1	-	1	216	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000506085.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin			15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		TGGGGGCAGGCGGCCAGCGCC	0.682000																								0							SO:0001583	missense			ENST00000508540.1	1	1	hg19	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113910	0.56398	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	D;D	0.96745	-4.11;-4.11	4.31	4.31	0.51392	Leucine-rich repeat-containing N-terminal (2);	0.119263	0.56097	D	0.000023	D	0.95408	0.8509	L	0.40543	1.245	0.44643	D	0.997625	D	0.63880	0.993	P	0.53593	0.73	D	0.93851	0.7145	10	0.20519	T	0.43	.	16.9843	0.86336	0.0:1.0:0.0:0.0	.	22	O15335	CHAD_HUMAN	T	22	ENSP00000423812:A22T;ENSP00000258969:A22T	ENSP00000258969:A22T	A	-	1	0	CHAD	45901110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.388000	0.66249	2.232000	0.73038	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	1	0	0	26	78	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	1	25	75	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPN3	55040	broad.mit.edu	37	17	48614080	48614080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48614080G>A	ENST00000268933.3	+	2	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.E110K|EPN3_ENST00000541226.1_5'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3			14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		GGCCTTCACCGAAGTCATGGG	0.597000																								0							SO:0001583	missense			ENST00000268933.3	1	1	hg19	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262270	0.95368	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000442715;ENST00000537145;ENST00000507709;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T	0.48522	0.81;0.81;0.85;0.81;0.81	5.28	5.28	0.74379	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.168407	0.51477	D	0.000086	T	0.76378	0.3979	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.82216	-0.0567	10	0.72032	D	0.01	-26.6736	18.5277	0.90978	0.0:0.0:1.0:0.0	.	110;110;55	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	K	55;55;110;110;16;55;55;55	ENSP00000268933:E55K;ENSP00000426762:E55K;ENSP00000439512:E110K;ENSP00000422601:E55K;ENSP00000421515:E55K	ENSP00000268933:E55K	E	+	1	0	EPN3	45969079	1.000000	0.71417	0.979000	0.43373	0.703000	0.40648	9.869000	0.99810	2.468000	0.83385	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	1	0	1	77	421	0	113	0	6.623455e-01	1	13	0	113	2		0	0	0	0	0	2	1	1	74	414	0	111	2								-3.144969	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPN3	55040	broad.mit.edu	37	17	48618173	48618173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48618173G>A	ENST00000268933.3	+	7	1578	c.999G>A	c.(997-999)gaG>gaA	p.E333E	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.E361E|EPN3_ENST00000541226.1_Missense_Mutation_p.R221K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3			14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		CGAACACAGAGGCCAGTGGAT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000268933.3	1	1	hg19	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078386	0.36662	.	.	ENSG00000049283	ENST00000541226	T	0.40756	1.02	5.23	2.1	0.27182	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.23082	N	0.998326	.	.	.	.	.	.	T	0.27938	-1.0059	6	0.06625	T	0.88	-7.9673	1.5035	0.02481	0.2435:0.145:0.4619:0.1496	.	.	.	.	K	221	ENSP00000440540:R221K	ENSP00000440540:R221K	R	+	2	0	EPN3	45973172	0.069000	0.21087	0.996000	0.52242	0.866000	0.49608	0.119000	0.15626	0.216000	0.20781	0.555000	0.69702	AGG		TCGA-IB-7651-01A-11D-2154-08	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	0	0	1	60	295	0	72	1	3.419176e-01	2	5	0	72	2		0	0	0	0	0	2	1	1	58	293	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1G	8913	broad.mit.edu	37	17	48676891	48676891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48676891C>T	ENST00000359106.5	+	17	3361	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCCTGAAGCGGAGAAGCCC	0.687000																								0							SO:0001583	missense			ENST00000359106.5	1	1	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887994	0.72410	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.47	4.47	0.54385	.	0.065248	0.64402	D	0.000006	D	0.91696	0.7375	M	0.73217	2.22	0.54753	D	0.99998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.995;0.997;0.996;0.999;0.997;0.994;0.999;0.994;0.995;0.999;0.994;0.995;0.999;0.992;0.996;0.982;0.977;0.999;0.995;0.988;0.987;0.999;0.982;0.99;0.992	D	0.92762	0.6225	10	0.72032	D	0.01	.	17.3164	0.87225	0.0:1.0:0.0:0.0	.	1098;1121;1121;1121;1121;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121;1098;1121;1098;1098;1098;1098;1121;1098;1121	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	W	1098;1098;1121;1098;1098;1098;1121;1121;1098;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121	ENSP00000353990:R1098W;ENSP00000339302:R1098W;ENSP00000392390:R1121W;ENSP00000347078:R1098W;ENSP00000409759:R1098W;ENSP00000425522:R1098W;ENSP00000426261:R1121W;ENSP00000425451:R1121W;ENSP00000422407:R1098W;ENSP00000426814:R1121W;ENSP00000427238:R1121W;ENSP00000423112:R1121W;ENSP00000420918:R1121W;ENSP00000426172:R1121W;ENSP00000423045:R1121W;ENSP00000427173:R1098W;ENSP00000426098:R1121W;ENSP00000425698:R1121W;ENSP00000426232:R1121W;ENSP00000423317:R1121W;ENSP00000350979:R1098W;ENSP00000352011:R1121W;ENSP00000414388:R1121W;ENSP00000423155:R1121W;ENSP00000422268:R1121W;ENSP00000421518:R1121W	ENSP00000339302:R1098W	R	+	1	2	CACNA1G	46031890	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	2.372000	0.44257	2.322000	0.78497	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1	12	65	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.993246e-01	12	64	0	13	2								-9.469366	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997346	0.990000	1	9.900000e-01	1
CACNA1G	8913	broad.mit.edu	37	17	48677208	48677208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48677208C>T	ENST00000359106.5	+	17	3678	c.3678C>T	c.(3676-3678)gaC>gaT	p.D1226D	CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000507896.1_Silent_p.D1226D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000352832.5_Silent_p.D1203D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000513964.1_Silent_p.D1226D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGCCGATGACGAGGGCAACC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000359106.5	0	1	hg19	CCDS45730.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1	21	158	0	23	0	0	1	0	0	23	2		0	0	0	0	0	2	1	9.999980e-01	21	155	0	23	2								-20.000000	1	1	120738	6	34	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.900000	1.000000	1.000000	0.994599	0.990000	1	9.900000e-01	1
CACNA1G	8913	broad.mit.edu	37	17	48692758	48692758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48692758G>A	ENST00000359106.5	+	27	4796	c.4796G>A	c.(4795-4797)cGc>cAc	p.R1599H	CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACTACTCCCGCTTCCGGCTC	0.632000																								0							SO:0001583	missense			ENST00000359106.5	1	1	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	10.88	1.476722	0.26511	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97016	-4.05;-4.05;-4.0;-4.06;-4.05;-4.08;-4.2;-4.18;-4.16;-4.21;-4.03;-4.02;-4.15;-4.04;-4.01;-4.08;-4.06;-4.03;-4.1;-4.05;-4.02;-4.09;-4.03;-4.08;-4.08	4.75	4.75	0.60458	.	0.126247	0.48767	D	0.000168	D	0.95758	0.8620	N	0.26162	0.8	0.35461	D	0.796521	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;P;B;B;B;D;B;B;B;B	0.89917	0.998;0.013;0.998;0.999;0.999;1.0;1.0;0.074;1.0;0.016;0.061;0.027;0.018;0.061;1.0;0.016;0.496;0.063;0.131;0.027;0.999;0.007;0.128;0.016;0.006	D;B;P;D;D;P;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B	0.80764	0.976;0.006;0.834;0.994;0.932;0.904;0.992;0.023;0.992;0.003;0.011;0.013;0.006;0.011;0.904;0.006;0.034;0.013;0.023;0.014;0.984;0.006;0.018;0.006;0.002	D	0.96457	0.9338	10	0.39692	T	0.17	.	11.288	0.49232	0.0848:0.0:0.9152:0.0	.	1542;1554;1547;1581;1554;1581;1606;1565;1599;1588;1599;1576;1588;1588;1581;1588;1599;1576;1599;1565;1558;1565;1576;1599;1565	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1576;1565;1565;1558;1576;1588;1554;1542;1547;1565;1599;1588;1554;1599;1565;1599;1581;1588;1606;1565;1599;1581;1581;1599;1588	ENSP00000353990:R1576H;ENSP00000339302:R1565H;ENSP00000347078:R1565H;ENSP00000409759:R1558H;ENSP00000425522:R1576H;ENSP00000426261:R1588H;ENSP00000425451:R1554H;ENSP00000422407:R1542H;ENSP00000426814:R1547H;ENSP00000427238:R1565H;ENSP00000423112:R1599H;ENSP00000420918:R1588H;ENSP00000426172:R1554H;ENSP00000423045:R1599H;ENSP00000427173:R1565H;ENSP00000426098:R1599H;ENSP00000425698:R1581H;ENSP00000426232:R1588H;ENSP00000423317:R1606H;ENSP00000350979:R1565H;ENSP00000352011:R1599H;ENSP00000414388:R1581H;ENSP00000423155:R1581H;ENSP00000422268:R1599H;ENSP00000421518:R1588H	ENSP00000339302:R1565H	R	+	2	0	CACNA1G	46047757	0.031000	0.19500	1.000000	0.80357	0.982000	0.71751	1.308000	0.33528	2.170000	0.68504	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1	48	166	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1	47	156	0	50	2								-20.000000	1	1	120980	1	29	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1G	8913	broad.mit.edu	37	17	48701746	48701746	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48701746G>T	ENST00000359106.5	+	37	6255	c.6255G>T	c.(6253-6255)caG>caT	p.Q2085H	CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCACTCCCAGCCAGCAGATA	0.637000																								0							SO:0001583	missense			ENST00000359106.5	0	1	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	16.87	3.241904	0.58995	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98280	-4.62;-4.54;-4.49;-4.56;-4.84;-4.57;-4.73;-4.69;-4.8;-4.72;-4.69;-4.51;-4.77;-4.62;-4.64;-4.66;-4.55;-4.77;-4.59;-4.4;-4.57;-4.59;-4.67;-4.43;-4.43	5.53	3.44	0.39384	.	47.086200	0.00166	N	0.000000	D	0.98667	0.9553	L	0.55990	1.75	0.39259	D	0.964189	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.995;1.0;0.995;0.995;0.998;0.995;0.991;0.999;0.991;0.999;0.998;1.0;1.0;0.996;0.995;0.988;0.997;0.997;0.999;1.0;0.995;0.999;0.999;0.989;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;P;D	0.87578	0.989;0.984;0.983;0.991;0.995;0.921;0.991;0.998;0.991;0.971;0.993;0.993;0.984;0.993;0.974;0.805;0.921;0.992;0.998;0.984;0.989;0.961;0.997;0.854;0.921	D	0.91737	0.5401	10	0.51188	T	0.08	.	10.6152	0.45445	0.165:0.0:0.835:0.0	.	1935;1947;1940;2022;1995;1967;1999;1958;1985;1981;1992;2014;1981;2074;1974;2029;1992;2062;2040;1958;1951;2006;1969;2085;1958	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1969;1958;2051;1951;2014;1981;1947;1935;1940;1958;2040;2074;1995;1985;2006;1992;1967;2029;1999;1958;2085;1974;2022;1992;1981	ENSP00000353990:Q1969H;ENSP00000339302:Q1958H;ENSP00000347078:Q2051H;ENSP00000409759:Q1951H;ENSP00000425522:Q2014H;ENSP00000426261:Q1981H;ENSP00000425451:Q1947H;ENSP00000422407:Q1935H;ENSP00000426814:Q1940H;ENSP00000427238:Q1958H;ENSP00000423112:Q2040H;ENSP00000420918:Q2074H;ENSP00000426172:Q1995H;ENSP00000423045:Q1985H;ENSP00000427173:Q2006H;ENSP00000426098:Q1992H;ENSP00000425698:Q1967H;ENSP00000426232:Q2029H;ENSP00000423317:Q1999H;ENSP00000350979:Q1958H;ENSP00000352011:Q2085H;ENSP00000414388:Q1974H;ENSP00000423155:Q2022H;ENSP00000422268:Q1992H;ENSP00000421518:Q1981H	ENSP00000339302:Q1958H	Q	+	3	2	CACNA1G	46056745	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.273000	0.51623	0.604000	0.29930	-0.367000	0.07326	CAG		TCGA-IB-7651-01A-11D-2154-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	0	0	1	5	33	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.279983e-01	5	30	0	12	2								-6.136256	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.610000	1.000000	1.000000	0.965180	0.990000	1	9.800000e-01	1
CACNA1G	8913	broad.mit.edu	37	17	48703937	48703937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48703937G>A	ENST00000359106.5	+	38	6959	c.6959G>A	c.(6958-6960)gGt>gAt	p.G2320D	CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G2193D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGAGCCAAGGTCCTCGGACC	0.667000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000359106.5	0	1	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451879	0.43531	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.5	5.5	0.81552	.	0.838841	0.10943	N	0.617055	T	0.57417	0.2052	L	0.59436	1.845	0.35367	D	0.788757	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;P;P;D;D;P;D;D;D;D;D	0.89917	1.0;0.913;0.907;1.0;0.997;0.997;1.0;0.895;1.0;0.02;0.02;0.995;0.437;0.019;0.999;0.729;0.949;1.0;0.991;0.57;1.0;0.997;0.997;0.978;1.0	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;B;P;D;P;B;D;D;P;P;D	0.91635	0.998;0.517;0.722;0.999;0.947;0.96;0.999;0.652;0.999;0.012;0.012;0.948;0.119;0.012;0.971;0.334;0.829;0.998;0.889;0.25;0.998;0.947;0.907;0.719;0.997	T	0.61978	-0.6951	10	0.87932	D	0	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	2170;2182;2175;2257;2230;2202;2234;2193;2220;2137;2148;2249;2216;2309;2209;2264;2227;2297;2275;2193;2186;2241;2204;2320;2114	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	D	2204;2193;2286;2186;2249;2216;2182;2170;2175;2193;2275;2309;2230;2220;2241;2227;2202;2264;2234;2114;2320;2209;2257;2148;2137	ENSP00000353990:G2204D;ENSP00000339302:G2193D;ENSP00000347078:G2286D;ENSP00000409759:G2186D;ENSP00000425522:G2249D;ENSP00000426261:G2216D;ENSP00000425451:G2182D;ENSP00000422407:G2170D;ENSP00000426814:G2175D;ENSP00000427238:G2193D;ENSP00000423112:G2275D;ENSP00000420918:G2309D;ENSP00000426172:G2230D;ENSP00000423045:G2220D;ENSP00000427173:G2241D;ENSP00000426098:G2227D;ENSP00000425698:G2202D;ENSP00000426232:G2264D;ENSP00000423317:G2234D;ENSP00000350979:G2114D;ENSP00000352011:G2320D;ENSP00000414388:G2209D;ENSP00000423155:G2257D;ENSP00000422268:G2148D;ENSP00000421518:G2137D	ENSP00000339302:G2193D	G	+	2	0	CACNA1G	46058936	1.000000	0.71417	0.980000	0.43619	0.300000	0.27592	5.458000	0.66679	2.590000	0.87494	0.561000	0.74099	GGT		TCGA-IB-7651-01A-11D-2154-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1	18	94	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	9.999888e-01	18	93	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999572	0.990000	1	9.900000e-01	1
CAMTA2	23125	broad.mit.edu	37	17	4872557	4872557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4872557G>A	ENST00000348066.3	-	21	3481	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*|SPAG7_ENST00000575142.1_5'Flank|SPAG7_ENST00000573366.1_5'Flank|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.R1119*|RP5-1050D4.3_ENST00000576752.1_RNA|SPAG7_ENST00000571023.1_5'Flank|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2			31					TGCTGAAATCGCTTCTGTTCA	0.627000																								0							SO:0001587	stop_gained			ENST00000348066.3	0	1	hg19	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	41	8.559694	0.98863	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.21	3.23	0.37069	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6456	11.2237	0.48871	0.0:0.0:0.8164:0.1836	.	.	.	.	X	1143;1115;1119;1113;1120	.	ENSP00000321813:R1120X	R	-	1	2	CAMTA2	4813281	0.037000	0.19845	0.997000	0.53966	0.994000	0.84299	0.178000	0.16820	0.969000	0.38237	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	0	0	0	17	577	0	112	0	7.933965e-01	0	102	0	112	2		0	0	0	0	0	2	1	9.999578e-01	17	563	0	112	2								-3.604062	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.350000	0.200000	1.000000	0.340000	0.423544	0.350000	0	2.700000e-01	4.900000e-01
ABCC3	8714	broad.mit.edu	37	17	48733272	48733272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48733272G>A	ENST00000285238.8	+	2	205	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3			33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)	Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGGGTGCCCTGCATCTACCTG	0.587000																								0							SO:0001583	missense			ENST00000285238.8	1	1	hg19	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364654	0.82463	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	T;T	0.59502	0.26;0.26	5.19	4.18	0.49190	.	0.060583	0.64402	D	0.000003	T	0.77412	0.4126	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.79108	0.903;0.992	T	0.81906	-0.0718	10	0.87932	D	0	-25.6963	14.6648	0.68899	0.0:0.1459:0.8541:0.0	.	42;42	O15438;O15438-5	MRP3_HUMAN;.	Y	42	ENSP00000395160:C42Y;ENSP00000285238:C42Y	ENSP00000285238:C42Y	C	+	2	0	ABCC3	46088271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.338000	0.65947	2.411000	0.81874	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	1	0	1	56	250	0	86	1	1	105	120	0	86	2		0	0	0	0	0	2	1	1	54	243	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC3	8714	broad.mit.edu	37	17	48746712	48746712	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48746712G>T	ENST00000285238.8	+	17	2144		c.e17-1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3			33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)	Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGTGGCCAGGGCTCCGTGG	0.607000																								0							SO:0001630	splice_region_variant			ENST00000285238.8	1	1	hg19	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806506	0.31961	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4367	0.87554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC3	46101711	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	9.657000	0.98554	2.432000	0.82394	0.305000	0.20034	.		TCGA-IB-7651-01A-11D-2154-08	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	1	0	1	56	258	0	75	0	2.968886e-01	1	5	0	75	2		0	0	0	0	0	2	1	1	53	253	0	74	2								-3.308337	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAMTA2	23125	broad.mit.edu	37	17	4876933	4876933	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4876933G>A	ENST00000348066.3	-	13	2271	c.2148C>T	c.(2146-2148)caC>caT	p.H716H	CAMTA2_ENST00000381311.5_Silent_p.H718H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Silent_p.H721H|CAMTA2_ENST00000361571.5_Silent_p.H715H|CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000358183.4_Silent_p.H716H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2			31					CAGCAGCCAGGTGCAGAAGGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000348066.3	1	1	hg19	CCDS11063.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	1	0	1	36	166	0	44	1	9.999915e-01	24	63	0	44	2		0	0	0	0	0	2	1	1	35	161	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CAMTA2	23125	broad.mit.edu	37	17	4877048	4877048	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4877048G>T	ENST00000348066.3	-	13	2156	c.2033C>A	c.(2032-2034)cCt>cAt	p.P678H	CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H|CAMTA2_ENST00000361571.5_Missense_Mutation_p.P677H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2			31					TTCGAACCCAGGCCCCTGGCC	0.597000																								0							SO:0001583	missense			ENST00000348066.3	1	1	hg19	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564895	0.65651	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.32515	2.67;1.69;1.45;1.69;1.46	4.85	4.85	0.62838	.	0.073877	0.56097	D	0.000029	T	0.30634	0.0771	N	0.12182	0.205	0.41702	D	0.989407	B;B;D;D;D	0.61697	0.016;0.029;0.99;0.983;0.986	B;B;P;P;P	0.57620	0.011;0.017;0.824;0.671;0.76	T	0.09357	-1.0678	10	0.44086	T	0.13	-14.7948	13.3308	0.60485	0.0:0.0:1.0:0.0	.	654;701;680;678;677	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	H	701;680;677;678;678	ENSP00000412886:P701H;ENSP00000370712:P680H;ENSP00000354828:P677H;ENSP00000350910:P678H;ENSP00000321813:P678H	ENSP00000321813:P678H	P	-	2	0	CAMTA2	4817772	0.998000	0.40836	0.440000	0.26846	0.951000	0.60555	1.941000	0.40233	2.528000	0.85240	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	1	0	1	62	231	0	80	1	9.999999e-01	25	70	0	80	2		0	0	0	0	0	2	1	1	61	227	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAMTA2	23125	broad.mit.edu	37	17	4883865	4883865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4883865G>T	ENST00000348066.3	-	9	875	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S250Y|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2			31					CACTTTGGGAGAGATGATGCG	0.587000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000348066.3	1	1	hg19	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171901	0.78452	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.44083	2.19;1.24;0.93;1.24;1.01	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000007	T	0.50565	0.1623	N	0.24115	0.695	0.46927	D	0.999255	D;D;D;D	0.76494	0.999;0.999;0.996;0.997	D;D;D;D	0.91635	0.997;0.999;0.982;0.997	T	0.56165	-0.8024	10	0.87932	D	0	-16.0601	14.9845	0.71336	0.0:0.0:1.0:0.0	.	274;253;251;250	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Y	274;253;250;251;251	ENSP00000412886:S274Y;ENSP00000370712:S253Y;ENSP00000354828:S250Y;ENSP00000350910:S251Y;ENSP00000321813:S251Y	ENSP00000321813:S251Y	S	-	2	0	CAMTA2	4824589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.388000	0.81334	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	1	0	1	92	453	0	94	1	1	37	90	0	94	2		0	0	0	0	0	2	1	1	85	435	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WFIKKN2	124857	broad.mit.edu	37	17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48917794C>T	ENST00000311378.4	+	2	1673	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		ATGAGCGGGCCGCTGGCCGCG	0.652000																								0							SO:0001583	missense			ENST00000311378.4	1	1	hg19	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421460	0.42918	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	D;D	0.82619	-1.63;-1.61	5.12	5.12	0.69794	Proteinase inhibitor I2, Kunitz metazoa (1);	0.121420	0.64402	D	0.000019	T	0.77287	0.4108	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.71155	-0.4675	10	0.25106	T	0.35	.	18.5566	0.91088	0.0:1.0:0.0:0.0	.	382	Q8TEU8	WFKN2_HUMAN	L	289;382;88	ENSP00000405889:P289L;ENSP00000311184:P382L	ENSP00000311184:P382L	P	+	2	0	WFIKKN2	46272793	0.998000	0.40836	0.893000	0.35052	0.976000	0.68499	6.007000	0.70731	2.361000	0.80049	0.556000	0.70494	CCG		TCGA-IB-7651-01A-11D-2154-08	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	1	0	1	59	356	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	59	355	0	68	2								-20.000000	1	1	121376	2	35	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
WFIKKN2	124857	broad.mit.edu	37	17	48918254	48918254	+	Silent	SNP	C	C	T	rs146313081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48918254C>T	ENST00000311378.4	+	2	2133	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	WFIKKN2_ENST00000426127.1_Silent_p.G442G|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		AGGTGGACGGCGGCATGGCCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000311378.4	1	1	hg19	CCDS11575.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	1	0	1	46	207	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1	45	204	0	45	2								-3.269244	1	1	121406	3	34	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INCA1	388324	broad.mit.edu	37	17	4893489	4893489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4893489C>T	ENST00000574617.1	-	4	471	c.116G>A	c.(115-117)cGt>cAt	p.R39H	RP5-1050D4.4_ENST00000575985.1_RNA|INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|INCA1_ENST00000355025.3_Missense_Mutation_p.R39H|CAMTA2_ENST00000381311.5_5'Flank|RP5-1050D4.5_ENST00000574260.1_RNA|INCA1_ENST00000396829.2_Missense_Mutation_p.R39H|CAMTA2_ENST00000348066.3_5'Flank|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|CAMTA2_ENST00000572543.1_5'Flank|CAMTA2_ENST00000361571.5_5'Flank|CAMTA2_ENST00000358183.4_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1			1					ATCTCCATAACGCTGGGGCAT	0.527000																								0							SO:0001583	missense			ENST00000574617.1	1	1	hg19	CCDS54074.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	16.04	3.010900	0.54361	.	.	ENSG00000196388	ENST00000396829;ENST00000355025	.	.	.	4.37	-1.72	0.08107	.	0.578202	0.15947	N	0.236916	T	0.14874	0.0359	N	0.11560	0.145	0.23138	N	0.998238	B;B	0.15141	0.005;0.012	B;B	0.10450	0.003;0.005	T	0.13335	-1.0513	9	0.33141	T	0.24	-0.2663	4.4816	0.11769	0.0:0.3416:0.1808:0.4776	.	39;39	Q0VD86-2;Q0VD86	.;INCA1_HUMAN	H	39	.	ENSP00000347129:R39H	R	-	2	0	INCA1	4834213	0.000000	0.05858	0.802000	0.32245	0.882000	0.50991	-1.769000	0.01792	-0.232000	0.09811	-0.147000	0.13772	CGT		TCGA-IB-7651-01A-11D-2154-08	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1	1	0	1	54	224	0	50	1	9.909507e-01	13	20	0	50	2		0	0	0	0	0	2	1	1	54	220	0	50	2								-20.000000	1	1	121412	6	39	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF1C	10749	broad.mit.edu	37	17	4905925	4905925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4905925G>A	ENST00000320785.5	+	7	953	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C			30					ATGGACTGTGGAAATAAAGCA	0.592000													Melanoma(96;1023 1447 10250 19259 33730)											0							SO:0001583	missense			ENST00000320785.5	1	1	hg19	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048994	0.93740	.	.	ENSG00000129250	ENST00000320785	D	0.83837	-1.77	5.43	5.43	0.79202	Kinesin, motor domain (4);	.	.	.	.	D	0.95114	0.8417	H	0.99117	4.435	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.96978	0.9713	9	0.87932	D	0	.	17.1003	0.86647	0.0:0.0:1.0:0.0	.	199	O43896	KIF1C_HUMAN	E	199	ENSP00000320821:G199E	ENSP00000320821:G199E	G	+	2	0	KIF1C	4846649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.890000	0.87313	2.727000	0.93392	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1	0	0	0	61	625	0	106	1	1	45	270	0	106	2		0	0	0	0	0	2	1	1	60	615	0	105	2								-16.686340	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.820000	1.000000	1.000000	0.977997	0.990000	1	9.400000e-01	1
SPAG9	9043	broad.mit.edu	37	17	49064500	49064500	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49064500G>A	ENST00000262013.7	-	22	3120	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I|SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9			37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		AAGCCACATAGTTGGTAAAAG	0.348000																								0							SO:0001583	missense			ENST00000262013.7	1	1	hg19	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171147	0.94807	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.44083	0.93;0.93;0.93;0.95	5.8	5.8	0.92144	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.69316	-0.5177	10	0.87932	D	0	-15.7473	20.051	0.97627	0.0:0.0:1.0:0.0	.	961;971;957;814	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	I	971;728;718;508;814;961;957;569	ENSP00000262013:T971I;ENSP00000423165:T814I;ENSP00000426900:T961I;ENSP00000349636:T957I	ENSP00000262013:T971I	T	-	2	0	SPAG9	46419499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.773000	0.98989	2.740000	0.93945	0.650000	0.86243	ACT		TCGA-IB-7651-01A-11D-2154-08	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	1	0	1	83	346	0	88	1	1	39	131	0	88	2		0	0	0	0	0	2	1	1	81	337	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPAG9	9043	broad.mit.edu	37	17	49075897	49075897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49075897C>T	ENST00000262013.7	-	15	1954	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPAG9_ENST00000505279.1_Silent_p.T572T|SPAG9_ENST00000510283.1_Silent_p.T425T|SPAG9_ENST00000357122.4_Silent_p.T568T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9			37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		TAACATGAGACGTGGGTGCAT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000262013.7	1	1	hg19	CCDS45740.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	1	0	1	85	347	0	74	1	1	42	133	0	74	2		0	0	0	0	0	2	1	1	82	340	0	72	2								-20.000000	1	1	121412	45	47	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NME1	4830	broad.mit.edu	37	17	49239138	49239138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49239138G>A	ENST00000393196.3	+	5	522	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	NME1_ENST00000336097.3_Missense_Mutation_p.G156S|NME2_ENST00000555572.1_Intron|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000511355.1_3'UTR|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME2_ENST00000376392.6_Intron|NME1-NME2_ENST00000393198.3_Intron	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1			3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)	Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	GAAGGAGATCGGCTTGTGGTT	0.468000													GBM(176;1298 2890 6639 30062)											0							SO:0001583	missense			ENST00000393196.3	1	1	hg19	CCDS11579.1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642871	0.14451	.	.	ENSG00000239672	ENST00000393196;ENST00000336097;ENST00000013034	T;T;T	0.75938	-0.98;-0.98;-0.98	5.81	1.19	0.21007	.	.	.	.	.	T	0.47173	0.1431	N	0.03209	-0.39	0.21105	N	0.999788	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.29822	-0.9999	9	0.27785	T	0.31	-2.5617	6.3414	0.21324	0.3619:0.1399:0.4982:0.0	.	131;156	P15531;P15531-2	NDKA_HUMAN;.	S	131;156;156	ENSP00000376892:G131S;ENSP00000337060:G156S;ENSP00000013034:G156S	ENSP00000013034:G156S	G	+	1	0	NME1	46594137	0.966000	0.33281	0.477000	0.27303	0.325000	0.28411	0.859000	0.27858	0.017000	0.15025	-0.980000	0.02579	GGC		TCGA-IB-7651-01A-11D-2154-08	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	1	0	1	68	354	0	70	1	1	133	421	0	70	2		0	0	0	0	0	2	1	1	68	336	0	58	2								-2.930959	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NME2	4831	broad.mit.edu	37	17	49244308	49244308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49244308G>A	ENST00000393193.2	+	5	539	c.462G>A	c.(460-462)aaG>aaA	p.K154K	NME1-NME2_ENST00000514264.2_Silent_p.K39K|NME2_ENST00000555572.1_Silent_p.K179K|NME1-NME2_ENST00000503064.1_Silent_p.K39K|NME1-NME2_ENST00000608447.1_Silent_p.K179K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME1-NME2_ENST00000393185.1_5'UTR|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME2_ENST00000376392.6_Silent_p.K154K|NME1-NME2_ENST00000393198.3_Silent_p.K154K			P22392	NDKB_HUMAN	NME/NM23 nucleoside diphosphate kinase 2			6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)	Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	TGGCCATGAAGTTCCTCCGGG	0.667000											OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Esophageal Squamous(49;809 1203 4404 15246)											0							SO:0001819	synonymous_variant			ENST00000393193.2	1	1	hg19	CCDS32682.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NME2-001	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000268664.2	0	0	0	65	369	0	60	1	1	1193	2861	0	60	2		0	0	0	0	0	2	1	1	63	367	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBTD1	54799	broad.mit.edu	37	17	49272664	49272664	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49272664G>T	ENST00000586178.1	-	13	1626	c.1283C>A	c.(1282-1284)tCt>tAt	p.S428Y	MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1			12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		GAACCAGTCAGATCCGTCTGC	0.433000																								0							SO:0001583	missense			ENST00000586178.1	1	1	hg19	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997708	0.93227	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.47177	0.85	5.36	5.36	0.76844	.	0.124037	0.64402	D	0.000020	T	0.64724	0.2624	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.64558	-0.6379	10	0.56958	D	0.05	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	428;264	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	Y	428	ENSP00000403946:S428Y	ENSP00000386072:S428Y	S	-	2	0	MBTD1	46627663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.665000	0.90641	0.643000	0.83706	TCT		TCGA-IB-7651-01A-11D-2154-08	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1	1	0	0	30	320	0	64	1	6.279554e-01	2	22	0	64	2		0	0	0	0	0	2	1	1	30	316	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.710000	1.000000	1.000000	0.949307	0.990000	1	8.600000e-01	1
ZFP3	124961	broad.mit.edu	37	17	4996027	4996027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4996027G>A	ENST00000318833.3	+	2	1564	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein			20					TCACCTTATTGTCCACCAGAG	0.433000																								0							SO:0001583	missense			ENST00000318833.3	1	1	hg19	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293593	0.23564	.	.	ENSG00000180787	ENST00000318833	T	0.17854	2.25	3.96	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33217	N	0.005159	T	0.15825	0.0381	N	0.05608	-0.01	0.09310	N	1	P	0.49862	0.929	D	0.63703	0.917	T	0.05599	-1.0875	10	0.33940	T	0.23	-9.5861	6.2776	0.20989	0.2192:0.0:0.7808:0.0	.	410	Q96NJ6	ZFP3_HUMAN	I	410	ENSP00000320347:V410I	ENSP00000320347:V410I	V	+	1	0	ZFP3	4936751	0.000000	0.05858	0.731000	0.30826	0.979000	0.70002	0.231000	0.17872	1.265000	0.44215	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	0	0	0	23	356	1	77	0	2.439800e-01	1	14	1	77	2		0	0	0	0	0	2	1	8.573887e-01	22	350	1	76	17								-6.358476	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.740000	0.480000	1.000000	1.000000	0.764148	0.740000	0	6.000000e-01	9.800000e-01
USP6	9098	broad.mit.edu	37	17	5040979	5040979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5040979G>A	ENST00000574788.1	+	20	3089	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V287M|USP6_ENST00000332776.4_Missense_Mutation_p.V287M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6			34					CCTGTGGGACGTGTATTTGGT	0.587000			T	COL1A1, CDH11, ZNF9, OMD	aneurysmal bone cysts										Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0							SO:0001583	missense			ENST00000574788.1	1	1	hg19	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598163	0.46318	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.43294	0.95;0.95	.	.	.	Rab-GAP/TBC domain (4);	1.338740	0.04428	N	0.368799	T	0.42585	0.1209	L	0.46670	1.46	0.80722	D	1	D	0.63046	0.992	P	0.46275	0.51	T	0.47497	-0.9113	8	0.87932	D	0	.	.	.	.	.	287	P35125	UBP6_HUMAN	M	287	ENSP00000328010:V287M;ENSP00000250066:V287M	ENSP00000250066:V287M	V	+	1	0	USP6	4981703	1.000000	0.71417	0.269000	0.24586	0.272000	0.26649	1.918000	0.40006	0.119000	0.18210	0.121000	0.15741	GTG		TCGA-IB-7651-01A-11D-2154-08	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	1	0	1	171	882	0	262	0	0	0	1	0	262	2		0	0	0	0	0	2	1	1	171	872	0	259	2								-20.000000	1	1	121412	3	40	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP6	9098	broad.mit.edu	37	17	5042848	5042848	+	Silent	SNP	G	G	A	rs61761605		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042848G>A	ENST00000574788.1	+	22	3607	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	USP6_ENST00000304328.5_Silent_p.T142T|USP6_ENST00000250066.6_Silent_p.T459T|USP6_ENST00000332776.4_Silent_p.T459T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6			34					GGCTCCCAACGGACCTGGATA	0.622000			T	COL1A1, CDH11, ZNF9, OMD	aneurysmal bone cysts										Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0							SO:0001819	synonymous_variant			ENST00000574788.1	1	1	hg19	CCDS11069.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	1	0	1	59	319	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	59	318	0	90	2								-20.000000	1	0	121412	33	48	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP6	9098	broad.mit.edu	37	17	5042898	5042898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042898G>A	ENST00000574788.1	+	22	3657	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	USP6_ENST00000304328.5_Missense_Mutation_p.S159N|USP6_ENST00000250066.6_Missense_Mutation_p.S476N|USP6_ENST00000332776.4_Missense_Mutation_p.S476N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6			34					TTTGAATGGAGCTGCTGGGTC	0.592000			T	COL1A1, CDH11, ZNF9, OMD	aneurysmal bone cysts										Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0							SO:0001583	missense			ENST00000574788.1	1	1	hg19	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	9.053	0.992452	0.18966	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.17213	2.44;2.91;2.29	0.266	0.266	0.15617	.	0.110616	0.64402	D	0.000003	T	0.13670	0.0331	L	0.27053	0.805	0.09310	N	1	B;B	0.33000	0.393;0.273	B;B	0.42319	0.383;0.213	T	0.18840	-1.0324	9	0.54805	T	0.06	.	.	.	.	.	159;476	P35125-2;P35125	.;UBP6_HUMAN	N	476;476;159	ENSP00000328010:S476N;ENSP00000250066:S476N;ENSP00000305473:S159N	ENSP00000250066:S476N	S	+	2	0	USP6	4983622	0.463000	0.25799	0.029000	0.17559	0.028000	0.11728	1.033000	0.30191	0.390000	0.25115	0.391000	0.25812	AGC		TCGA-IB-7651-01A-11D-2154-08	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	1	0	1	71	285	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	70	281	0	87	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF2B	84643	broad.mit.edu	37	17	51900373	51900373	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900373C>A	ENST00000268919.4	+	0	135					NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B			104					TGGAGCGCTCCCTGATACCTC	0.612000																								0											ENST00000268919.4	0	1	hg19	CCDS32685.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	0	0	0	29	111	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1	28	111	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KIF2B	84643	broad.mit.edu	37	17	51900714	51900714	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900714G>T	ENST00000268919.4	+	1	476	c.320G>T	c.(319-321)aGg>aTg	p.R107M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B			104					TCGGCCATCAGGGACCAGCGT	0.607000																								0							SO:0001583	missense			ENST00000268919.4	1	1	hg19	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	3.971	-0.008450	0.07727	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74526	-0.85	5.11	4.14	0.48551	.	0.973510	0.08370	N	0.956337	T	0.64148	0.2572	L	0.32530	0.975	0.09310	N	1	P	0.35077	0.483	B	0.31245	0.126	T	0.54523	-0.8281	10	0.44086	T	0.13	.	11.1089	0.48221	0.0897:0.0:0.9103:0.0	.	107	Q8N4N8	KIF2B_HUMAN	M	107;30	ENSP00000268919:R107M	ENSP00000268919:R107M	R	+	2	0	KIF2B	49255713	0.593000	0.26840	0.161000	0.22692	0.009000	0.06853	2.552000	0.45828	2.798000	0.96311	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	1	0	1	147	640	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	146	630	0	148	2								-2.863373	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF2B	84643	broad.mit.edu	37	17	51900974	51900974	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900974T>G	ENST00000268919.4	+	1	736	c.580T>G	c.(580-582)Tat>Gat	p.Y194D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B			104					GATCGAAGAGTATCGCAGGCA	0.577000																								0							SO:0001583	missense			ENST00000268919.4	1	1	hg19	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849780	0.51270	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17370	2.28	5.52	5.52	0.82312	.	0.449029	0.18966	N	0.126267	T	0.22244	0.0536	M	0.62723	1.935	0.44771	D	0.997772	P	0.43857	0.819	B	0.39562	0.303	T	0.02805	-1.1108	10	0.87932	D	0	.	15.1057	0.72319	0.0:0.0:0.0:1.0	.	194	Q8N4N8	KIF2B_HUMAN	D	194;117	ENSP00000268919:Y194D	ENSP00000268919:Y194D	Y	+	1	0	KIF2B	49255973	1.000000	0.71417	0.413000	0.26509	0.753000	0.42808	5.369000	0.66138	2.211000	0.71520	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	1	0	1	75	344	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	76	339	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF2B	84643	broad.mit.edu	37	17	51901131	51901131	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901131T>C	ENST00000268919.4	+	1	893	c.737T>C	c.(736-738)gTg>gCg	p.V246A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B			104					GTGGTTATGGTGCATGAGTCC	0.547000																								0							SO:0001583	missense			ENST00000268919.4	0	1	hg19	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327754	0.81690	.	.	ENSG00000141200	ENST00000268919	T	0.18810	2.19	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.46442	D	0.000283	T	0.43055	0.1230	M	0.82056	2.57	0.46564	D	0.999102	P	0.46706	0.883	P	0.53722	0.733	T	0.43180	-0.9407	10	0.72032	D	0.01	.	15.3186	0.74102	0.0:0.0:0.0:1.0	.	246	Q8N4N8	KIF2B_HUMAN	A	246	ENSP00000268919:V246A	ENSP00000268919:V246A	V	+	2	0	KIF2B	49256130	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.941000	0.87700	2.258000	0.74832	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	0	0	0	7	285	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.802274e-01	7	282	0	51	2								-7.982627	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.310000	0.130000	1.000000	0.280000	0.372921	0.310000	0	2.000000e-01	4.800000e-01
KIF2B	84643	broad.mit.edu	37	17	51901392	51901392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901392C>T	ENST00000268919.4	+	1	1154	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B			104					GCTCTGGTGGCACAGGATGTC	0.478000																								0							SO:0001583	missense			ENST00000268919.4	1	1	hg19	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042862	0.75732	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73363	-0.74	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.115539	0.38326	N	0.001727	T	0.69151	0.3079	L	0.28608	0.87	0.54753	D	0.999983	P	0.37207	0.587	B	0.41174	0.349	T	0.71328	-0.4626	10	0.56958	D	0.05	.	16.7672	0.85527	0.0:1.0:0.0:0.0	.	333	Q8N4N8	KIF2B_HUMAN	V	333;221	ENSP00000268919:A333V	ENSP00000268919:A333V	A	+	2	0	KIF2B	49256391	0.998000	0.40836	0.303000	0.25071	0.629000	0.37895	3.740000	0.55082	2.798000	0.96311	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	1	0	1	96	443	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	94	440	0	99	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF2B	84643	broad.mit.edu	37	17	51901512	51901512	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901512A>T	ENST00000268919.4	+	1	1274	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B			104					TGGAAGAAGAAGCTGCAAGTC	0.463000																								0							SO:0001583	missense			ENST00000268919.4	1	1	hg19	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101980	0.56183	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76316	-1.01	5.67	4.58	0.56647	Kinesin, motor domain (4);	0.141109	0.32028	N	0.006692	T	0.78033	0.4220	M	0.74258	2.255	0.41685	D	0.989313	B	0.32365	0.367	B	0.39771	0.309	T	0.79569	-0.1749	10	0.62326	D	0.03	.	7.866	0.29537	0.8597:0.0:0.1403:0.0	.	373	Q8N4N8	KIF2B_HUMAN	M	373;261	ENSP00000268919:K373M	ENSP00000268919:K373M	K	+	2	0	KIF2B	49256511	0.016000	0.18221	0.982000	0.44146	0.928000	0.56348	2.351000	0.44071	2.275000	0.75901	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	1	0	1	73	378	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	68	366	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABEP1	9135	broad.mit.edu	37	17	5268464	5268464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5268464G>A	ENST00000546142.2	+	11	1903	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000341923.6_Silent_p.E572E|RABEP1_ENST00000262477.6_Silent_p.E572E|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.E572E|RABEP1_ENST00000537505.1_Silent_p.E529E			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1			8					ACCAGTTAGAGAAGACAATGA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000546142.2	1	1	hg19	CCDS45592.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	1	0	0	83	357	0	81	1	1	23	100	0	81	2		0	0	0	0	0	2	1	1	81	352	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABEP1	9135	broad.mit.edu	37	17	5280417	5280417	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5280417C>T	ENST00000546142.2	+	14	2219	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000262477.6_Missense_Mutation_p.R678W|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W|RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1			8					CCAGGCACTGCGGGAGTTGGT	0.393000																								0							SO:0001583	missense			ENST00000546142.2	1	1	hg19	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848670	0.91277	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.99	4.99	0.66335	Rabaptin, GTPase-Rab5 binding (1);	0.191631	0.48767	D	0.000179	T	0.55529	0.1926	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998	P;P;P;P;P	0.57679	0.627;0.744;0.825;0.744;0.627	T	0.58719	-0.7587	10	0.87932	D	0	-12.9011	17.8295	0.88677	0.0:1.0:0.0:0.0	.	635;635;671;678;678	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	W	678;678;671;678;678;635	ENSP00000262477:R678W;ENSP00000386150:R678W;ENSP00000437701:R678W;ENSP00000339569:R678W;ENSP00000445408:R635W	ENSP00000262477:R678W	R	+	1	2	RABEP1	5221141	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.308000	0.78929	2.760000	0.94817	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	1	0	1	158	635	0	141	1	1	20	86	0	141	2		0	0	0	0	0	2	1	1	156	626	0	141	2								-20.000000	1	1	120812	1	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABEP1	9135	broad.mit.edu	37	17	5284791	5284791	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5284791G>A	ENST00000546142.2	+	17	2665	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000262477.6_Silent_p.Q826Q|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.Q793Q|RABEP1_ENST00000537505.1_Silent_p.Q783Q			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1			8					AGCTTTCACAGACCCTTCAGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000546142.2	1	1	hg19	CCDS45592.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	1	0	1	46	238	0	67	1	9.999901e-01	19	73	0	67	2		0	0	0	0	0	2	1	1	45	235	0	67	2								-3.168293	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOM1L1	10040	broad.mit.edu	37	17	53027406	53027406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000540336.1_Splice_Site_p.A318V|TOM1L1_ENST00000348161.4_Splice_Site_p.A353V|COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V|TOM1L1_ENST00000445275.2_Splice_Site_p.A419V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1			15					TTGCCCAAAGCGATGACAAAA	0.358000																								0							SO:0001630	splice_region_variant			ENST00000575882.1	1	0	hg19	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631705	0.46944	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.23754	1.89;1.89;1.89	5.51	1.23	0.21249	.	0.658250	0.13744	N	0.365740	T	0.12305	0.0299	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.19445	0.007;0.004;0.036;0.004	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.31138	-0.9954	9	.	.	.	.	5.4075	0.16330	0.0:0.593:0.158:0.249	.	318;423;353;430	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	430;318;353;353	ENSP00000441242:A318V;ENSP00000343901:A353V;ENSP00000443099:A353V	.	A	+	2	0	TOM1L1	50382405	0.002000	0.14202	0.032000	0.17829	0.791000	0.44710	-0.173000	0.09854	0.121000	0.18284	-0.311000	0.09066	GCG		TCGA-IB-7651-01A-11D-2154-08	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	1	0	1	54	294	0	61	1	1	50	107	0	61	2		0	0	0	0	0	2	1	1	53	292	0	61	2								-3.326702	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP88	4927	broad.mit.edu	37	17	5302881	5302881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5302881G>T	ENST00000573584.1	-	8	1791	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	p.L428I(1)		15					CCTGATCCAAGAAATTTGTGA	0.343000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000573584.1	1	1	hg19	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022303	0.54683	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.59436	1.845	0.58432	D	0.999993	P;B;D	0.69078	0.476;0.288;0.997	B;B;D	0.85130	0.159;0.069;0.997	T	0.74420	-0.3671	9	0.39692	T	0.17	-0.711	16.987	0.86342	0.0:0.0:1.0:0.0	.	428;297;428	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	I	428;297	.	ENSP00000225696:L428I	L	-	1	0	NUP88	5243605	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.784000	0.75084	2.580000	0.87095	0.460000	0.39030	CTT		TCGA-IB-7651-01A-11D-2154-08	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	1	0	1	43	158	0	52	1	9.999997e-01	22	67	0	52	2		0	0	0	0	0	2	1	1	43	156	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOM1L1	10040	broad.mit.edu	37	17	53037950	53037950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53037950C>T	ENST00000575882.1	+	15	1747	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V|COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1			15					GAAATTGATGCTCACCAGCAC	0.343000																								0							SO:0001583	missense			ENST00000575882.1	1	1	hg19	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613557	0.46631	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.26957	1.7;1.8;1.8	6.17	-7.98	0.01135	.	1.077410	0.07116	N	0.843044	T	0.09158	0.0226	N	0.05383	-0.06	0.40731	D	0.982742	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.19451	-1.0305	10	0.17832	T	0.49	0.0588	6.1911	0.20524	0.0929:0.5024:0.1878:0.2169	.	353;458;388;465	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	465;353;388;388	ENSP00000441242:A353V;ENSP00000343901:A388V;ENSP00000443099:A388V	ENSP00000343901:A388V	A	+	2	0	TOM1L1	50392949	0.000000	0.05858	0.003000	0.11579	0.723000	0.41478	-3.555000	0.00432	-1.488000	0.01847	-0.345000	0.07892	GCT		TCGA-IB-7651-01A-11D-2154-08	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	1	0	1	12	280	0	84	1	9.810077e-01	18	140	0	84	2		0	0	0	0	0	2	1	9.990557e-01	12	274	0	84	2								-3.815657	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.510000	0.270000	1.000000	0.480000	0.555314	0.510000	0	3.800000e-01	7.200000e-01
VPS53	55275	broad.mit.edu	37	17	531366	531366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:531366G>T	ENST00000571805.1	-	9	929	c.793C>A	c.(793-795)Ctg>Atg	p.L265M	VPS53_ENST00000437048.2_Missense_Mutation_p.L265M|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)			19					TACTCTGACAGATGCTGTTTA	0.358000																								0							SO:0001583	missense			ENST00000571805.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.7	4.190685	0.78789	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074	T;T;T	0.59906	0.23;0.23;0.23	6.04	5.08	0.68730	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.996;0.998;0.996	T	0.80016	-0.1559	10	0.87932	D	0	-14.7172	14.7343	0.69404	0.0688:0.0:0.9312:0.0	.	265;67;265;236	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	M	265;67;236	ENSP00000401435:L265M;ENSP00000394386:L67M;ENSP00000291074:L236M	ENSP00000291074:L236M	L	-	1	2	VPS53	478116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.478000	0.66806	1.584000	0.49913	-0.217000	0.12591	CTG		TCGA-IB-7651-01A-11D-2154-08	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	1	0	1	39	130	0	40	1	9.873467e-01	4	22	0	40	2		0	0	0	0	0	2	1	1	38	129	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP88	4927	broad.mit.edu	37	17	5323023	5323023	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5323023G>T	ENST00000573584.1	-	0	457				RPAIN_ENST00000381209.3_5'UTR|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'UTR|RPAIN_ENST00000536255.2_5'UTR	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa			15					GCTGAGCACAGCCAATCCGCG	0.701000																								0											ENST00000573584.1	0	1	hg19	CCDS11070.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	0	0	0	41	134	0	33	1	4.344065e-01	2	4	0	33	2		0	0	0	0	0	2	1	1	35	104	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1QBP	708	broad.mit.edu	37	17	5336648	5336648	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5336648T>C	ENST00000225698.4	-	5	745	c.664A>G	c.(664-666)Act>Gct	p.T222A	CTC-524C5.2_ENST00000575890.1_RNA|C1QBP_ENST00000574444.1_Missense_Mutation_p.T118A	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein			3				Hyaluronan(DB08818)	GTATAATTAGTATCCTTCCAT	0.478000																								0							SO:0001583	missense			ENST00000225698.4	1	1	hg19	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158060	0.57368	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	.	0.047581	0.85682	D	0.000000	T	0.60483	0.2272	L	0.59436	1.845	0.53688	D	0.999971	B	0.29232	0.238	B	0.31245	0.126	T	0.62732	-0.6792	9	0.54805	T	0.06	-8.1776	14.2178	0.65805	0.0:0.0:0.0:1.0	.	222	Q07021	C1QBP_HUMAN	A	222	.	ENSP00000225698:T222A	T	-	1	0	C1QBP	5277372	1.000000	0.71417	0.987000	0.45799	0.886000	0.51366	7.741000	0.84997	2.144000	0.66660	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	0	0	1	104	429	0	90	1	1	216	413	0	90	2		0	0	0	0	0	2	1	1	103	424	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCTP	58488	broad.mit.edu	37	17	53848535	53848535	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53848535T>C	ENST00000268896.5	+	3	453	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PCTP_ENST00000325214.6_Missense_Mutation_p.S38P|PCTP_ENST00000576183.1_Missense_Mutation_p.S110P|PCTP_ENST00000573500.1_Missense_Mutation_p.S110P	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein			10			BRCA - Breast invasive adenocarcinoma(1;0.00207)		TTTTCCCATGTCCAACAGAGA	0.458000																								0							SO:0001583	missense			ENST00000268896.5	1	1	hg19	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191660	0.58017	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T;T	0.49720	0.77;0.77	5.19	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.115303	0.64402	D	0.000010	T	0.48447	0.1500	M	0.86805	2.84	0.53688	D	0.99997	P	0.38280	0.625	B	0.33454	0.164	T	0.52109	-0.8619	10	0.52906	T	0.07	.	7.986	0.30212	0.0:0.0935:0.0:0.9065	.	110	Q9UKL6	PPCT_HUMAN	P	110;38;89	ENSP00000268896:S110P;ENSP00000415185:S38P	ENSP00000268896:S110P	S	+	1	0	PCTP	51203534	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.156000	0.50708	0.924000	0.37069	0.379000	0.24179	TCC		TCGA-IB-7651-01A-11D-2154-08	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	1	0	1	64	359	0	86	1	9.999950e-01	24	77	0	86	2		0	0	0	0	0	2	1	1	63	352	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKFN1	162282	broad.mit.edu	37	17	54520268	54520268	+	Missense_Mutation	SNP	C	C	T	rs145617071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54520268C>T	ENST00000318698.2	+	9	1117	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ANKFN1_ENST00000566473.2_Missense_Mutation_p.T361M	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	p.T361M(1)		53					GCTCAGACCACGACACCGGCA	0.483000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000318698.2	1	1	hg19	CCDS32686.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	22.2	4.262435	0.80358	0.0	1.16E-4	ENSG00000153930	ENST00000318698	T	0.33865	1.39	5.72	5.72	0.89469	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.200345	0.53938	D	0.000052	T	0.36853	0.0982	L	0.43923	1.385	0.47094	D	0.999319	D	0.58268	0.982	B	0.42062	0.374	T	0.27773	-1.0064	10	0.66056	D	0.02	-10.2902	19.8804	0.96895	0.0:1.0:0.0:0.0	.	361	Q8N957	ANKF1_HUMAN	M	361	ENSP00000321627:T361M	ENSP00000321627:T361M	T	+	2	0	ANKFN1	51875267	0.993000	0.37304	0.966000	0.40874	0.964000	0.63967	6.516000	0.73755	2.684000	0.91462	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	1	0	0	17	281	0	49	0	3.762293e-03	1	1	0	49	2		0	0	0	0	0	2	1	9.999608e-01	17	274	0	49	2								-5.569723	1	1	121400	22	42	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.700000	0.420000	1.000000	1.000000	0.721869	0.700000	0	5.400000e-01	9.300000e-01
ANKFN1	162282	broad.mit.edu	37	17	54554920	54554920	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54554920C>A	ENST00000318698.2	+	15	1889	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L	ANKFN1_ENST00000566473.2_Silent_p.L618L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1			53					ACCTAAAGCTCTGTAGCTCTG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000318698.2	1	1	hg19	CCDS32686.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	1	0	1	113	424	0	114	0	1.992451e-01	0	4	0	114	2		0	0	0	0	0	2	1	1	111	420	0	113	2								-3.806340	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP1	22861	broad.mit.edu	37	17	5456838	5456838	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5456838A>C	ENST00000572272.1	-	5	2395	c.2396T>G	c.(2395-2397)aTt>aGt	p.I799S	NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000345221.3_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1			65		Colorectal(1115;3.48e-05)			GGAGAAGAGAATCTGCCAATA	0.542000																								0							SO:0001583	missense			ENST00000572272.1	1	1	hg19	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	6.944	0.543931	0.13312	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.48	-0.917	0.10485	.	2.379340	0.02045	N	0.049571	T	0.40473	0.1118	L	0.52573	1.65	0.09310	N	0.999994	P;P;P;B;B;B	0.46457	0.58;0.878;0.878;0.044;0.059;0.073	B;B;B;B;B;B	0.44108	0.373;0.441;0.441;0.029;0.03;0.046	T	0.21895	-1.0232	10	0.22109	T	0.4	.	0.8203	0.01110	0.3889:0.1741:0.1:0.3371	.	65;799;799;799;799;799	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	S	799;799;799;799;799;65	ENSP00000442029:I799S;ENSP00000262467:I799S;ENSP00000269280:I799S;ENSP00000346390:I799S;ENSP00000324366:I799S	ENSP00000262467:I799S	I	-	2	0	NLRP1	5397562	0.020000	0.18652	0.001000	0.08648	0.008000	0.06430	0.215000	0.17562	0.008000	0.14787	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	1	0	0	44	234	0	41	1	8.638641e-01	5	16	0	41	2		0	0	0	0	0	2	1	1	44	227	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C17orf67	339210	broad.mit.edu	37	17	54872520	54872520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54872520C>T	ENST00000575658.1	-	7	1456	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T|C17orf67_ENST00000397861.2_Missense_Mutation_p.A60T	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67			7	Breast(9;2.49e-06)				TGCTCCAGGGCGAGCAGGTGG	0.552000																								0							SO:0001583	missense			ENST00000575658.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	3.782	-0.045429	0.07452	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.53	0.192	0.15134	.	1.869520	0.04652	U	0.407337	T	0.25344	0.0616	N	0.14661	0.345	0.23132	N	0.998242	B	0.17465	0.022	B	0.08055	0.003	T	0.17806	-1.0357	9	0.16896	T	0.51	-3.7325	8.1756	0.31281	0.0:0.4148:0.3711:0.2141	.	84	Q0P5P2	CQ067_HUMAN	T	84	.	ENSP00000380959:A84T	A	-	1	0	C17orf67	52227519	0.001000	0.12720	0.927000	0.36925	0.158000	0.22134	0.418000	0.21230	-0.098000	0.12285	-1.008000	0.02478	GCC		TCGA-IB-7651-01A-11D-2154-08	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		1	0	0	10	182	0	42	0	4.379281e-02	0	6	0	42	2		0	0	0	0	0	2	1	9.970359e-01	10	181	0	42	2								-12.896090	1	1	121044	7	37	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.650000	0.330000	1.000000	1.000000	0.679435	0.650000	0	4.700000e-01	9.300000e-01
C17orf67	339210	broad.mit.edu	37	17	54893177	54893177	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54893177C>A	ENST00000575658.1	-	5	1273	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C	C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C|C17orf67_ENST00000397861.2_De_novo_Start_OutOfFrame	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67			7	Breast(9;2.49e-06)				TTCATCCTGCCTTGGTTCCTC	0.507000																								0							SO:0001583	missense			ENST00000575658.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	6.632	0.485154	0.12641	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	3.37	2.39	0.29439	.	.	.	.	.	T	0.19805	0.0476	N	0.08118	0	0.20563	N	0.999885	D	0.58268	0.982	P	0.50490	0.642	T	0.05435	-1.0885	8	0.37606	T	0.19	-3.932	5.3929	0.16253	0.0:0.7225:0.0:0.2775	.	23	Q0P5P2	CQ067_HUMAN	C	23	.	ENSP00000380959:G23C	G	-	1	0	C17orf67	52248176	0.038000	0.19896	0.670000	0.29842	0.427000	0.31564	0.004000	0.13106	0.751000	0.32900	-0.271000	0.10264	GGC		TCGA-IB-7651-01A-11D-2154-08	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		0	0	1	41	164	0	34	0	1.081749e-01	0	3	0	34	2		0	0	0	0	0	2	1	1	41	161	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGKE	8526	broad.mit.edu	37	17	54925319	54925319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54925319C>T	ENST00000284061.3	+	5	961	c.781C>T	c.(781-783)Cta>Tta	p.L261L		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa			25	Breast(9;3.59e-07)				TATCAAAGCCCTACAACTCTG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000284061.3	1	1	hg19	CCDS11590.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	1	0	0	25	431	0	74	1	3.145995e-01	3	17	0	74	2		0	0	0	0	0	2	1	9.999998e-01	24	422	0	74	2								-2.879263	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.660000	0.430000	1.000000	0.650000	0.693188	0.660000	0	5.400000e-01	8.500000e-01
DGKE	8526	broad.mit.edu	37	17	54939214	54939214	+	Silent	SNP	C	C	T	rs117438162	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54939214C>T	ENST00000284061.3	+	10	1527	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa			25	Breast(9;3.59e-07)				TTCTGAACATCGGATACTGGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000284061.3	1	1	hg19	CCDS11590.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	1	0	1	172	710	0	119	1	8.198013e-01	4	11	0	119	2		0	0	0	0	0	2	1	1	167	690	0	119	2								-20.000000	1	1	121412	2	30	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSI2	124540	broad.mit.edu	37	17	55335665	55335665	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55335665A>G	ENST00000284073.2	+	4	429	c.220A>G	c.(220-222)Agt>Ggt	p.S74G	MSI2_ENST00000416426.2_Missense_Mutation_p.S52G|MSI2_ENST00000322684.3_Missense_Mutation_p.S70G	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2			7	Breast(9;1.78e-08)				AGACCCAGCAAGTGTAGATAA	0.458000			T	HOXA9	CML										Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0							SO:0001583	missense			ENST00000284073.2	1	1	hg19	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331261	0.41297	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	D;D;D	0.85773	-2.03;-2.03;-2.03	4.78	4.78	0.61160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.90287	0.6962	M	0.67569	2.06	0.80722	D	1	D;B;B	0.53885	0.963;0.001;0.001	D;B;B	0.69824	0.966;0.002;0.009	D	0.89023	0.3436	10	0.32370	T	0.25	.	13.4938	0.61411	1.0:0.0:0.0:0.0	.	52;70;74	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	G	52;74;70	ENSP00000414671:S52G;ENSP00000284073:S74G;ENSP00000313616:S70G	ENSP00000284073:S74G	S	+	1	0	MSI2	52690664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.839000	0.75364	1.780000	0.52325	0.523000	0.50628	AGT		TCGA-IB-7651-01A-11D-2154-08	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1	1	0	1	122	585	0	150	1	1	69	91	0	150	2		0	0	0	0	0	2	1	1	119	574	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSI2	124540	broad.mit.edu	37	17	55752391	55752391	+	Silent	SNP	C	C	T	rs141534185	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55752391C>T	ENST00000284073.2	+	12	1058	c.849C>T	c.(847-849)gcC>gcT	p.A283A	MSI2_ENST00000416426.2_Silent_p.A279A|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Silent_p.A222A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2			7	Breast(9;1.78e-08)				GACCTGTCGCCGATCTCTACG	0.682000			T	HOXA9	CML										Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0							SO:0001819	synonymous_variant			ENST00000284073.2	0	1	hg19	CCDS11596.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1	0	0	0	15	906	0	98	1	4.498778e-01	4	85	0	98	2		0	0	0	0	0	2	1	9.998508e-01	16	889	0	98	2								-2.643703	1	1	121396	1	42	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.200000	0.110000	1.000000	0.190000	0.268981	0.200000	0	1.500000e-01	2.800000e-01
MRPS23	51649	broad.mit.edu	37	17	55917297	55917297	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55917297C>A	ENST00000313608.8	-	5	466		c.e5-1			NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23			5	Breast(9;8.75e-08)				CTCCGTGTTGCTTAAAAGACC	0.403000																								0							SO:0001630	splice_region_variant			ENST00000313608.8	1	1	hg19	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528459	0.44969	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.708	0.77602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS23	53272296	0.930000	0.31532	0.453000	0.27007	0.010000	0.07245	0.503000	0.22610	2.781000	0.95711	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	1	0	1	56	286	0	57	1	1.309360e-01	2	2	0	57	2		0	0	0	0	0	2	1	1	56	284	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VEZF1	7716	broad.mit.edu	37	17	56058141	56058141	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56058141T>C	ENST00000581208.1	-	4	839	c.799A>G	c.(799-801)Act>Gct	p.T267A	VEZF1_ENST00000584396.1_Missense_Mutation_p.T258A	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1			10					AAGGCAGCAGTGCACGTCTGC	0.448000																								0							SO:0001583	missense			ENST00000581208.1	0	1	hg19	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525295	0.44969	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.043175	0.85682	D	0.000000	T	0.52125	0.1715	L	0.28274	0.84	0.80722	D	1	B	0.25609	0.13	B	0.24541	0.054	T	0.51220	-0.8733	9	0.56958	D	0.05	-2.6976	16.2214	0.82262	0.0:0.0:0.0:1.0	.	267	Q14119	VEZF1_HUMAN	A	267	.	ENSP00000258963:T267A	T	-	1	0	VEZF1	53413140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.135000	0.64777	2.232000	0.73038	0.523000	0.50628	ACT		TCGA-IB-7651-01A-11D-2154-08	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1	0	0	0	6	225	0	42	1	8.444283e-01	5	124	0	42	2		0	0	0	0	0	2	1	9.626248e-01	6	219	0	42	2								-7.976138	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.340000	0.130000	1.000000	0.300000	0.401938	0.340000	0	2.200000e-01	5.400000e-01
OR4D2	124538	broad.mit.edu	37	17	56247439	56247439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247439G>T	ENST00000545221.1	+	1	423	c.423G>T	c.(421-423)tgG>tgT	p.W141C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2			26					CTCAGCTCTGGGTGGGGCTGG	0.592000																								0							SO:0001583	missense			ENST00000545221.1	1	1	hg19	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.194430	0.00299	.	.	ENSG00000255713	ENST00000545221	T	0.00021	9.03	5.71	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000012	T	0.00012	0.0000	N	0.00000	-4.2	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.54649	-0.8262	10	0.02654	T	1	-6.0013	4.3334	0.11075	0.0:0.1575:0.1815:0.661	.	141	P58180	OR4D2_HUMAN	C	141	ENSP00000441354:W141C	ENSP00000441354:W141C	W	+	3	0	OR4D2	53602438	0.000000	0.05858	1.000000	0.80357	0.659000	0.38960	-0.822000	0.04448	1.102000	0.41551	-0.311000	0.09066	TGG		TCGA-IB-7651-01A-11D-2154-08	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1	1	0	1	112	492	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	112	477	0	120	2								-3.412733	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4D2	124538	broad.mit.edu	37	17	56247902	56247902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247902G>T	ENST00000545221.1	+	1	886	c.886G>T	c.(886-888)Gca>Tca	p.A296S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	p.A296T(1)		26					GGACATGCAGGCAGCAGTGAG	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000545221.1	1	1	hg19	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	1.950	-0.441560	0.04604	.	.	ENSG00000255713	ENST00000545221	T	0.36520	1.25	5.65	4.58	0.56647	.	0.124396	0.36482	N	0.002563	T	0.14184	0.0343	N	0.05259	-0.085	0.26979	N	0.965404	B	0.14012	0.009	B	0.15870	0.014	T	0.27331	-1.0077	10	0.09338	T	0.73	-12.4766	6.156	0.20338	0.092:0.0:0.6791:0.2289	.	296	P58180	OR4D2_HUMAN	S	296	ENSP00000441354:A296S	ENSP00000441354:A296S	A	+	1	0	OR4D2	53602901	0.002000	0.14202	1.000000	0.80357	0.791000	0.44710	-0.003000	0.12901	2.825000	0.97269	0.609000	0.83330	GCA		TCGA-IB-7651-01A-11D-2154-08	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1	1	0	0	32	598	0	165		0	0	0	0	165	2		0	0	0	0	0	2	1	1	31	594	0	164	2								-5.464161	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.610000	0.420000	1.000000	0.600000	0.646079	0.610000	0	5.100000e-01	7.600000e-01
EPX	8288	broad.mit.edu	37	17	56270749	56270749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56270749G>A	ENST00000225371.5	+	3	298	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	p.R63H(1)		48				Melatonin(DB01065)	CAGCGGCTTCGCAGCGGTTCA	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000225371.5	1	1	hg19	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513668	0.27123	.	.	ENSG00000121053	ENST00000225371	T	0.71103	-0.54	4.86	-6.89	0.01660	.	1.143690	0.06082	N	0.662044	T	0.59321	0.2185	L	0.61387	1.9	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.50915	-0.8771	10	0.52906	T	0.07	-2.2677	3.4732	0.07575	0.4946:0.108:0.2882:0.1092	.	63	P11678	PERE_HUMAN	H	63	ENSP00000225371:R63H	ENSP00000225371:R63H	R	+	2	0	EPX	53625748	0.000000	0.05858	0.015000	0.15790	0.419000	0.31324	-0.761000	0.04751	-1.086000	0.03084	0.549000	0.68633	CGC		TCGA-IB-7651-01A-11D-2154-08	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1	113	740	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	1	110	722	0	162	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPX	8288	broad.mit.edu	37	17	56271324	56271324	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56271324G>A	ENST00000225371.5	+	5	575	c.465G>A	c.(463-465)aaG>aaA	p.K155K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase			48				Melatonin(DB01065)	ATGGCTGCAGGAGGAGACCCT	0.672000																								0							SO:0001630	splice_region_variant			ENST00000225371.5	1	0	hg19	CCDS11602.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1	51	235	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	50	230	0	46	2								-3.411879	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPX	8288	broad.mit.edu	37	17	56274612	56274612	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56274612C>A	ENST00000225371.5	+	7	1224	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase			48				Melatonin(DB01065)	CCCCTGCTTCCTGGCAGGTCA	0.622000																								0							SO:0001583	missense			ENST00000225371.5	1	1	hg19	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961240	0.53400	.	.	ENSG00000121053	ENST00000225371	T	0.75154	-0.91	4.86	3.9	0.45041	.	0.304053	0.31438	N	0.007660	D	0.83695	0.5310	M	0.80183	2.485	0.43149	D	0.994916	D	0.76494	0.999	D	0.72982	0.979	D	0.83894	0.0286	10	0.59425	D	0.04	-8.0465	7.8255	0.29313	0.0:0.8096:0.0:0.1904	.	372	P11678	PERE_HUMAN	M	372	ENSP00000225371:L372M	ENSP00000225371:L372M	L	+	1	2	EPX	53629611	0.405000	0.25336	1.000000	0.80357	0.974000	0.67602	0.042000	0.13949	1.185000	0.42971	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1	38	300	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	37	295	0	56	2								-3.017768	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.970000	1.000000	1.000000	0.997859	0.990000	1	9.900000e-01	1
EPX	8288	broad.mit.edu	37	17	56276417	56276417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase			48				Melatonin(DB01065)	CCCGATCAACGGAAACCCCCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000225371.5	1	1	hg19	CCDS11602.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1	42	162	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	40	158	0	46	2								-3.727195	1	1	121412	7	38	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPX	8288	broad.mit.edu	37	17	56281654	56281654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56281654G>A	ENST00000225371.5	+	12	2128	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	p.R673Q(1)		48				Melatonin(DB01065)	TCCTTGTCTCGAATTATATGT	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000225371.5	1	1	hg19	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155851	0.94686	2.27E-4	0.0	ENSG00000121053	ENST00000225371	T	0.74737	-0.87	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.85945	2.785	0.58432	D	0.999998	D	0.76494	0.999	P	0.56563	0.801	D	0.87659	0.2533	10	0.87932	D	0	-2.5207	17.2336	0.86991	0.0:0.0:1.0:0.0	.	673	P11678	PERE_HUMAN	Q	673	ENSP00000225371:R673Q	ENSP00000225371:R673Q	R	+	2	0	EPX	53636653	0.988000	0.35896	0.996000	0.52242	0.597000	0.36814	4.535000	0.60629	2.660000	0.90430	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	1	0	1	75	359	0	79	0	0	0	1	0	79	2		0	0	0	0	0	2	1	1	75	351	0	79	2								-3.055025	1	1	121412	1	37	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKS1	54903	broad.mit.edu	37	17	56292170	56292170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56292170G>A	ENST00000393119.2	-	5	521	c.447C>T	c.(445-447)agC>agT	p.S149S	MKS1_ENST00000313863.6_Silent_p.S149S|MKS1_ENST00000546108.1_Intron|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000537529.2_Silent_p.S139S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1			26					AAGGCACCTCGCTGGCTGCAG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000393119.2	1	1	hg19	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431037	0.43122	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.28699	N	0.90415	.	.	.	.	.	.	T	0.11372	-1.0590	4	.	.	.	-9.958	8.0798	0.30737	0.6261:0.2194:0.0836:0.0709	.	.	.	.	V	150	.	.	A	-	2	0	MKS1	53647169	0.000000	0.05858	0.032000	0.17829	0.813000	0.45954	-3.171000	0.00573	-2.873000	0.00322	-0.366000	0.07423	GCG		TCGA-IB-7651-01A-11D-2154-08	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	1	0	1	15	113	0	30	1	8.492852e-01	2	26	0	30	2		0	0	0	0	0	2	1	9.998638e-01	14	108	0	30	2								-19.999220	1	0	121080	2	32	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.830000	1.000000	1.000000	0.989409	0.990000	1	9.900000e-01	1
LPO	4025	broad.mit.edu	37	17	56326965	56326965	+	Missense_Mutation	SNP	C	C	T	rs140216571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326965C>T	ENST00000262290.4	+	6	798	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000582328.1_Missense_Mutation_p.A78V|LPO_ENST00000421678.2_Missense_Mutation_p.A78V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase			30					AGGGCTCTGGCGCGCTGGCTG	0.716000																								0							SO:0001583	missense			ENST00000262290.4	1	1	hg19	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609118	0.96637	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.70045	-0.45;-0.45;-0.45	5.45	5.45	0.79879	.	0.165981	0.53938	D	0.000050	T	0.74344	0.3704	L	0.48218	1.51	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;0.983;0.998;0.999	P;P;P;P	0.60173	0.735;0.468;0.806;0.87	T	0.70799	-0.4774	10	0.30078	T	0.28	.	18.2787	0.90092	0.0:1.0:0.0:0.0	.	78;78;102;161	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	V	161;78;102	ENSP00000262290:A161V;ENSP00000400245:A78V;ENSP00000445344:A102V	ENSP00000262290:A161V	A	+	2	0	LPO	53681964	0.934000	0.31675	1.000000	0.80357	0.977000	0.68977	0.792000	0.26929	2.543000	0.85770	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1	1	0	0	30	134	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1	30	130	0	22	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
LPO	4025	broad.mit.edu	37	17	56326984	56326984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326984G>T	ENST00000262290.4	+	6	817	c.501G>T	c.(499-501)gaG>gaT	p.E167D	LPO_ENST00000543544.1_Missense_Mutation_p.E108D|LPO_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000421678.2_Missense_Mutation_p.E84D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase			30					TGCCCGCGGAGTACGAGGACG	0.726000																								0							SO:0001583	missense			ENST00000262290.4	1	1	hg19	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759121	0.69763	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.68765	-0.35;-0.35;-0.35	5.45	0.544	0.17185	.	0.164449	0.52532	D	0.000062	T	0.48537	0.1505	L	0.39147	1.195	0.37990	D	0.93387	B;B;B;B	0.26363	0.046;0.021;0.147;0.147	B;B;B;B	0.33121	0.063;0.068;0.112;0.158	T	0.18335	-1.0340	10	0.15066	T	0.55	.	2.1383	0.03768	0.213:0.1522:0.4796:0.1552	.	84;84;108;167	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	D	167;84;108	ENSP00000262290:E167D;ENSP00000400245:E84D;ENSP00000445344:E108D	ENSP00000262290:E167D	E	+	3	2	LPO	53681983	0.999000	0.42202	0.998000	0.56505	0.986000	0.74619	0.577000	0.23758	0.621000	0.30232	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1	1	0	0	25	123	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999999e-01	24	118	0	23	2								-20.000000	1	0	120378	1	24	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999961	0.990000	1	9.900000e-01	1
LPO	4025	broad.mit.edu	37	17	56342265	56342265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56342265G>T	ENST00000262290.4	+	10	1765	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000582328.1_Missense_Mutation_p.Q400H|LPO_ENST00000421678.2_Missense_Mutation_p.Q400H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase			30					AGAATTATCAGCCATGGGGGC	0.522000																								0							SO:0001583	missense			ENST00000262290.4	1	1	hg19	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020350	0.54576	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73363	-0.74;-0.74;-0.74	6.17	3.16	0.36331	.	0.304519	0.34750	N	0.003712	T	0.76385	0.3980	M	0.72479	2.2	0.36809	D	0.885762	B;P	0.42735	0.452;0.788	B;P	0.46659	0.36;0.523	T	0.79848	-0.1630	10	0.72032	D	0.01	-13.7066	10.9003	0.47047	0.2004:0.0:0.7996:0.0	.	400;483	E7EMJ3;P22079	.;PERL_HUMAN	H	483;400;424;228	ENSP00000262290:Q483H;ENSP00000400245:Q400H;ENSP00000445344:Q424H	ENSP00000262290:Q483H	Q	+	3	2	LPO	53697264	0.467000	0.25831	0.997000	0.53966	0.980000	0.70556	0.126000	0.15769	0.500000	0.27991	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1	1	0	1	70	219	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	1	66	213	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPO	4025	broad.mit.edu	37	17	56343534	56343534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56343534C>T	ENST00000262290.4	+	11	1856	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000582328.1_Missense_Mutation_p.R431W|LPO_ENST00000421678.2_Missense_Mutation_p.R431W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase			30					TCCTCTGGTGCGGGGCCTGCT	0.532000																								0							SO:0001583	missense			ENST00000262290.4	1	1	hg19	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101119	0.76983	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.70986	-0.53;-0.53;-0.53	6.06	3.95	0.45737	.	0.049849	0.85682	D	0.000000	D	0.88142	0.6357	H	0.95712	3.71	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91681	0.5358	10	0.87932	D	0	-36.0285	14.2005	0.65699	0.2853:0.7147:0.0:0.0	.	431;514	E7EMJ3;P22079	.;PERL_HUMAN	W	514;431;455;259	ENSP00000262290:R514W;ENSP00000400245:R431W;ENSP00000445344:R455W	ENSP00000262290:R514W	R	+	1	2	LPO	53698533	0.039000	0.19947	0.954000	0.39281	0.996000	0.88848	0.408000	0.21065	1.522000	0.49001	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1	1	0	1	32	157	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	31	150	0	40	2								-3.151044	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
MPO	4353	broad.mit.edu	37	17	56355451	56355451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56355451C>T	ENST00000225275.3	-	7	1117	c.941G>A	c.(940-942)cGc>cAc	p.R314H	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.R346H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase			46				Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CGGGCAGGAGCGGAAGAACGG	0.622000																								0							SO:0001583	missense			ENST00000225275.3	1	1	hg19	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382585	0.95967	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	H	0.98559	4.265	0.80722	D	1	D	0.55800	0.973	P	0.48089	0.566	D	0.95837	0.8863	10	0.87932	D	0	-24.6902	18.0012	0.89198	0.0:1.0:0.0:0.0	.	314	P05164	PERM_HUMAN	H	346;314	ENSP00000344419:R346H;ENSP00000225275:R314H	ENSP00000225275:R314H	R	-	2	0	MPO	53710450	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.046000	0.71029	2.518000	0.84900	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1	1	0	1	101	480	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	98	468	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPO	4353	broad.mit.edu	37	17	56356920	56356920	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56356920T>C	ENST00000225275.3	-	4	688	c.512A>G	c.(511-513)gAc>gGc	p.D171G	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.D171G	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase			46				Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCGGTATTTGTCCTGCTCCGG	0.652000																								0							SO:0001583	missense			ENST00000225275.3	1	1	hg19	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450950	0.26074	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72505	-0.66;-0.66	5.04	3.95	0.45737	.	0.304797	0.36101	N	0.002783	T	0.65565	0.2703	M	0.72118	2.19	0.22779	N	0.998745	B	0.31968	0.349	B	0.30316	0.114	T	0.61860	-0.6976	10	0.49607	T	0.09	-28.6647	8.6186	0.33847	0.0:0.0911:0.0:0.9089	.	171	P05164	PERM_HUMAN	G	171	ENSP00000344419:D171G;ENSP00000225275:D171G	ENSP00000225275:D171G	D	-	2	0	MPO	53711919	0.174000	0.23070	0.965000	0.40720	0.175000	0.22909	0.275000	0.18698	1.904000	0.55121	0.379000	0.24179	GAC		TCGA-IB-7651-01A-11D-2154-08	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1	1	0	1	37	161	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	37	158	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BZRAP1	9256	broad.mit.edu	37	17	56386380	56386380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56386380C>T	ENST00000343736.4	-	22	4416	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1418H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1358H			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1			54	Medulloblastoma(34;0.127)|all_neural(34;0.237)				AGGCCGCCTGCGGCTTGGGGG	0.662000																								0							SO:0001583	missense			ENST00000343736.4	1	0	hg19	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	c	11.12	1.545017	0.27652	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04809	3.55;3.55;3.56	5.31	3.32	0.38043	.	0.745690	0.13368	N	0.393144	T	0.04998	0.0134	L	0.32530	0.975	0.25701	N	0.98559	B;B;B	0.21821	0.042;0.061;0.036	B;B;B	0.16722	0.011;0.016;0.007	T	0.33394	-0.9870	10	0.87932	D	0	.	9.0355	0.36284	0.0:0.775:0.1461:0.0789	.	1418;1358;1418	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	H	1418;1418;1358	ENSP00000347929:R1418H;ENSP00000345824:R1418H;ENSP00000268893:R1358H	ENSP00000268893:R1358H	R	-	2	0	BZRAP1	53741379	0.997000	0.39634	0.935000	0.37517	0.512000	0.34134	1.834000	0.39171	0.637000	0.30526	-0.215000	0.12644	CGC		TCGA-IB-7651-01A-11D-2154-08	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	1	185	751	0	146	1	7.940481e-01	6	8	0	146	2		0	0	0	0	0	2	1	1	102	408	0	67	2								-20.000000	1	1	119702	3	40	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BZRAP1	9256	broad.mit.edu	37	17	56387922	56387922	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56387922T>C	ENST00000343736.4	-	20	3813	c.3650A>G	c.(3649-3651)gAg>gGg	p.E1217G	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1217G|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1157G			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1			54	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TTGGCACATCTCGGTATTTGG	0.647000																								0							SO:0001583	missense			ENST00000343736.4	1	1	hg19	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417196	0.62511	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.88509	-2.39;-2.39;-2.39	5.71	5.71	0.89125	.	0.390780	0.29515	N	0.011935	D	0.87826	0.6275	L	0.55481	1.735	0.09310	N	1	B;P;P	0.40066	0.155;0.592;0.701	B;B;B	0.42959	0.096;0.403;0.388	T	0.83166	-0.0096	10	0.56958	D	0.05	.	12.3744	0.55271	0.0:0.0:0.0:1.0	.	1217;1157;1217	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	G	1217;1217;1157	ENSP00000347929:E1217G;ENSP00000345824:E1217G;ENSP00000268893:E1157G	ENSP00000268893:E1157G	E	-	2	0	BZRAP1	53742921	0.020000	0.18652	0.008000	0.14137	0.002000	0.02628	1.988000	0.40697	2.180000	0.69256	0.379000	0.24179	GAG		TCGA-IB-7651-01A-11D-2154-08	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	1	70	355	0	84	0	2.627505e-01	0	6	0	84	2		0	0	0	0	0	2	1	1	69	352	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BZRAP1	9256	broad.mit.edu	37	17	56389337	56389337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389337G>T	ENST00000343736.4	-	17	3008	c.2845C>A	c.(2845-2847)Ctc>Atc	p.L949I	BZRAP1_ENST00000355701.3_Missense_Mutation_p.L949I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L889I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1			54	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TGGGGTGGGAGCTGAGCCTCC	0.657000																								0							SO:0001583	missense			ENST00000343736.4	1	1	hg19	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165512	0.38217	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04706	3.57;3.6;3.6	4.95	3.95	0.45737	Fibronectin, type III (2);	0.398397	0.21514	N	0.073340	T	0.04815	0.0130	L	0.33485	1.01	0.24983	N	0.991587	B;B;B	0.14805	0.001;0.011;0.003	B;B;B	0.17433	0.003;0.018;0.009	T	0.37337	-0.9710	10	0.16896	T	0.51	.	13.5894	0.61951	0.0:0.0:0.8384:0.1616	.	949;889;949	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	949;949;889	ENSP00000347929:L949I;ENSP00000345824:L949I;ENSP00000268893:L889I	ENSP00000268893:L889I	L	-	1	0	BZRAP1	53744336	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.478000	0.66806	1.167000	0.42706	0.455000	0.32223	CTC		TCGA-IB-7651-01A-11D-2154-08	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	0	12	307	0	49	0	0	1	0	0	49	2		0	0	0	0	0	2	1	9.991112e-01	12	304	0	49	2								-12.879890	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.470000	0.250000	1.000000	0.440000	0.516086	0.470000	0	3.400000e-01	6.600000e-01
BZRAP1	9256	broad.mit.edu	37	17	56389920	56389920	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389920G>A	ENST00000343736.4	-	17	2425	c.2262C>T	c.(2260-2262)agC>agT	p.S754S	BZRAP1_ENST00000355701.3_Silent_p.S754S|BZRAP1_ENST00000268893.6_Silent_p.S694S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1			54	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TTTGGCCCCCGCTACTGCTGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000343736.4	1	1	hg19	CCDS11605.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	1	86	399	0	85	0	3.636579e-01	0	7	0	85	2		0	0	0	0	0	2	1	1	85	391	0	85	2								-20.000000	1	1	121412	15	43	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF43	54894	broad.mit.edu	37	17	56435680	56435680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435680C>A	ENST00000584437.1	-	8	3412	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I			Q68DV7	RNF43_HUMAN	ring finger protein 43			60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				CCCCTGTAGGCTGATGTCCGT	0.587000																								0							SO:0001583	missense			ENST00000584437.1	1	1	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354749	0.41700	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.34667	1.35;1.41	4.69	4.69	0.59074	.	0.283745	0.41396	D	0.000883	T	0.51227	0.1662	L	0.36672	1.1	0.36562	D	0.872467	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.991	T	0.62358	-0.6871	10	0.87932	D	0	-19.8757	16.5861	0.84727	0.0:1.0:0.0:0.0	.	445;486;486	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	I	486;445	ENSP00000385328:S486I;ENSP00000441969:S445I	ENSP00000385328:S486I	S	-	2	0	RNF43	53790679	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	5.849000	0.69465	2.160000	0.67779	0.174000	0.16983	AGC		TCGA-IB-7651-01A-11D-2154-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1	86	446	0	118	1	9.998501e-01	27	41	0	118	2	1	1	99	324	0	353	2	1	1	86	435	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF43	54894	broad.mit.edu	37	17	56440681	56440681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56440681G>A	ENST00000584437.1	-	4	2492	c.537C>T	c.(535-537)aaC>aaT	p.N179N	RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000583753.1_Silent_p.N138N|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000581868.1_Silent_p.N52N|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.N179N|RNF43_ENST00000577625.1_Silent_p.N52N			Q68DV7	RNF43_HUMAN	ring finger protein 43			60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GGGCCTTTTGGTTCTTGTACA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000584437.1	1	1	hg19	CCDS11607.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1	94	405	0	77	1	9.987393e-01	17	28	0	77	2	1	1	195	991	1	1163	6	1	1	94	397	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSF5	124535	broad.mit.edu	37	17	56557601	56557601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56557601C>T	ENST00000323777.3	-	2	687	c.578G>A	c.(577-579)cGg>cAg	p.R193Q		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5			16	Medulloblastoma(34;0.127)|all_neural(34;0.237)				ACGAAATGACCGGTGAAATTG	0.428000																								0							SO:0001583	missense			ENST00000323777.3	1	1	hg19	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742215	0.89573	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.49139	0.79	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000053	T	0.54598	0.1868	N	0.24115	0.695	0.44492	D	0.997434	D	0.76494	0.999	D	0.72625	0.978	T	0.51196	-0.8736	10	0.33940	T	0.23	.	16.3777	0.83410	0.0:1.0:0.0:0.0	.	193	Q4G112	HSF5_HUMAN	Q	93;193	ENSP00000313243:R193Q	ENSP00000313243:R193Q	R	-	2	0	HSF5	53912600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.274000	0.51631	2.646000	0.89796	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	1	0	1	74	298	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	71	293	0	47	2								-20.000000	1	1	121392	1	34	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSF5	124535	broad.mit.edu	37	17	56565462	56565462	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56565462G>A	ENST00000323777.3	-	1	283	c.174C>T	c.(172-174)ggC>ggT	p.G58G		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5			16	Medulloblastoma(34;0.127)|all_neural(34;0.237)				tcccgccaccgccccccggcc	0.716000																								0							SO:0001819	synonymous_variant			ENST00000323777.3	0	1	hg19	CCDS32690.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	0	0	0	23	96	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999997e-01	23	95	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
MTMR4	9110	broad.mit.edu	37	17	56569901	56569901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56569901G>T	ENST00000323456.5	-	18	3505	c.3381C>A	c.(3379-3381)ttC>ttA	p.F1127L	MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4			36	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TGGCCAACCAGAATTCACAGT	0.453000																								0							SO:0001583	missense			ENST00000323456.5	1	1	hg19	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988516	0.93106	.	.	ENSG00000108389	ENST00000323456	D	0.84800	-1.9	5.82	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94135	0.8119	H	0.95328	3.655	0.41506	D	0.988312	D	0.76494	0.999	D	0.83275	0.996	D	0.94967	0.8113	10	0.87932	D	0	.	11.6908	0.51514	0.1039:0.0:0.8961:0.0	.	1127	Q9NYA4	MTMR4_HUMAN	L	1127	ENSP00000325285:F1127L	ENSP00000325285:F1127L	F	-	3	2	MTMR4	53924900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.353000	0.66034	1.213000	0.43380	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	0	0	1	212	882	0	243	1	1	26	93	0	243	2		0	0	0	0	0	2	1	1	205	853	0	241	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR4	9110	broad.mit.edu	37	17	56572543	56572543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56572543G>A	ENST00000323456.5	-	16	3084	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4			36	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GACTTGCTTTGGATGACTGGA	0.507000																								0							SO:0001583	missense			ENST00000323456.5	1	1	hg19	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656254	0.29425	.	.	ENSG00000108389	ENST00000323456	D	0.92647	-3.08	5.58	5.58	0.84498	.	0.804396	0.11951	N	0.513693	D	0.84552	0.5497	N	0.16478	0.41	0.39397	D	0.966519	B	0.02656	0.0	B	0.04013	0.001	T	0.76567	-0.2912	10	0.15499	T	0.54	.	11.8846	0.52594	0.0885:0.0:0.9115:0.0	.	987	Q9NYA4	MTMR4_HUMAN	L	987	ENSP00000325285:P987L	ENSP00000325285:P987L	P	-	2	0	MTMR4	53927542	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.504000	0.53347	2.627000	0.88993	0.555000	0.69702	CCA		TCGA-IB-7651-01A-11D-2154-08	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	1	0	1	163	702	0	155	1	1	27	98	0	155	2		0	0	0	0	0	2	1	1	156	689	0	152	2								-3.020885	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR4	9110	broad.mit.edu	37	17	56584573	56584573	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56584573G>T	ENST00000323456.5	-	9	897	c.773C>A	c.(772-774)gCc>gAc	p.A258D	MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4			36	Medulloblastoma(34;0.127)|all_neural(34;0.237)				CAGGGCACAGGCTTTAGCAAT	0.617000																								0							SO:0001583	missense			ENST00000323456.5	1	1	hg19	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482580	0.96307	.	.	ENSG00000108389	ENST00000323456	D	0.91068	-2.78	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.113387	0.64402	D	0.000011	D	0.96460	0.8845	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97001	0.9729	10	0.87932	D	0	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	258	Q9NYA4	MTMR4_HUMAN	D	258	ENSP00000325285:A258D	ENSP00000325285:A258D	A	-	2	0	MTMR4	53939572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.713000	0.92767	0.644000	0.83932	GCC		TCGA-IB-7651-01A-11D-2154-08	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	1	0	1	70	316	0	57	1	9.990189e-01	5	44	0	57	2		0	0	0	0	0	2	1	1	68	316	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR4	9110	broad.mit.edu	37	17	56586165	56586165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56586165G>T	ENST00000323456.5	-	6	455	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4			36	Medulloblastoma(34;0.127)|all_neural(34;0.237)				AGCCGTGAGAGCCACTCTTGG	0.587000																								0							SO:0001583	missense			ENST00000323456.5	1	1	hg19	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942278	0.34283	.	.	ENSG00000108389	ENST00000323456	D	0.82893	-1.66	5.91	4.76	0.60689	.	0.205916	0.42821	D	0.000659	T	0.79293	0.4421	L	0.50333	1.59	0.47547	D	0.999459	P	0.41313	0.745	B	0.39419	0.299	T	0.79988	-0.1571	10	0.44086	T	0.13	.	14.7036	0.69171	0.0825:0.0:0.9175:0.0	.	111	Q9NYA4	MTMR4_HUMAN	I	111	ENSP00000325285:L111I	ENSP00000325285:L111I	L	-	1	0	MTMR4	53941164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.297000	0.51810	2.813000	0.96785	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	1	0	1	51	162	0	48	1	9.999506e-01	23	28	0	48	2		0	0	0	0	0	2	1	1	50	156	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEPT4	5414	broad.mit.edu	37	17	56598178	56598178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56598178C>T	ENST00000317268.3	-	11	1479	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|MTMR4_ENST00000323456.5_5'Flank|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N|SEPT4_ENST00000457347.2_Missense_Mutation_p.D450N|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|MTMR4_ENST00000579925.1_5'Flank	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4			18	Medulloblastoma(34;0.127)|all_neural(34;0.237)				ATGGGGAAGTCGGTACCACTT	0.537000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000317268.3	1	1	hg19	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532635	0.45073	0.0	1.16E-4	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.53206	0.63;0.64;0.63;0.64	5.62	5.62	0.85841	.	0.293457	0.38837	N	0.001547	T	0.61198	0.2328	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.928;1.0	D;D;D;B;D	0.83275	0.969;0.996;0.969;0.373;0.932	T	0.56414	-0.7983	10	0.39692	T	0.17	.	17.5005	0.87730	0.0:1.0:0.0:0.0	.	427;450;416;288;435	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	N	427;449;416;435;416	ENSP00000414779:D427N;ENSP00000321071:D416N;ENSP00000321674:D435N;ENSP00000376801:D416N	ENSP00000321071:D416N	D	-	1	0	SEPT4	53953177	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.717000	0.84732	2.795000	0.96236	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	0	0	0	30	782	0	148	0	8.897214e-01	0	102	0	148	2		0	0	0	0	0	2	1	1	28	769	0	147	2								-3.659856	1	1	121412	2	38	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.440000	0.300000	1.000000	0.440000	0.493820	0.440000	0	3.600000e-01	5.600000e-01
SEPT4	5414	broad.mit.edu	37	17	56599357	56599357	+	Silent	SNP	G	G	A	rs144640338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56599357G>A	ENST00000317268.3	-	6	944	c.768C>T	c.(766-768)tgC>tgT	p.C256C	SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000580809.1_Silent_p.C138C|SEPT4_ENST00000426861.1_Silent_p.C237C|SEPT4_ENST00000317256.6_Silent_p.C237C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000580844.1_Silent_p.C157C	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4			18	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TGAAGTACAGGCAGCAGTGCA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000317268.3	1	1	hg19	CCDS11610.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	1	0	1	69	321	0	74	1	9.999992e-01	2	95	0	74	2		0	0	0	0	0	2	1	1	68	312	0	73	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX14	56155	broad.mit.edu	37	17	56651552	56651552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56651552C>A	ENST00000240361.8	-	23	3602	c.3517G>T	c.(3517-3519)Gac>Tac	p.D1173Y	TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y|TEX14_ENST00000389934.3_Missense_Mutation_p.D1167Y			Q8IWB6	TEX14_HUMAN	testis expressed 14			81	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TCATACATGTCTTTCTCTTTC	0.353000																								0							SO:0001583	missense			ENST00000240361.8	1	1	hg19	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482421	0.63962	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.23552	1.9;1.9;1.9	5.51	4.53	0.55603	.	0.155857	0.45126	D	0.000384	T	0.36193	0.0958	L	0.32530	0.975	0.28234	N	0.92599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.943;0.972;0.974	T	0.12604	-1.0541	10	0.87932	D	0	.	9.7481	0.40459	0.0:0.9023:0.0:0.0977	.	1173;1127;1167	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1173;1167;1127	ENSP00000240361:D1173Y;ENSP00000374584:D1167Y;ENSP00000268910:D1127Y	ENSP00000240361:D1173Y	D	-	1	0	TEX14	54006551	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.067000	0.30616	1.433000	0.47394	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1	1	0	1	64	310	0	80	0	3.026412e-02	1	1	0	80	2		0	0	0	0	0	2	1	1	64	307	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX14	56155	broad.mit.edu	37	17	56679270	56679270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56679270C>T	ENST00000240361.8	-	13	1678	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	TEX14_ENST00000349033.5_Silent_p.V525V|TEX14_ENST00000389934.3_Silent_p.V525V			Q8IWB6	TEX14_HUMAN	testis expressed 14			81	Medulloblastoma(34;0.127)|all_neural(34;0.237)				CGTATCTCTGCACTCTGGGGC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000240361.8	1	1	hg19	CCDS56042.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1	1	0	1	53	319	0	74	0	2.117647e-02	0	2	0	74	2		0	0	0	0	0	2	1	1	52	312	0	73	2								-19.999950	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
RAD51C	5889	broad.mit.edu	37	17	56772420	56772420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56772420G>A	ENST00000337432.4	+	2	345	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C			1	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GGAACTTCTTGAGCAGGAGCA	0.418000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2															0							SO:0001583	missense	Familial Cancer Database	BRCAX	ENST00000337432.4	1	1	hg19	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306102	0.60305	.	.	ENSG00000108384	ENST00000337432;ENST00000421782;ENST00000425173	T;T;T	0.38887	1.11;1.4;1.11	5.65	5.65	0.86999	DNA recombination and repair protein Rad51, C-terminal (1);	0.194459	0.56097	D	0.000035	T	0.39332	0.1074	L	0.46947	1.48	0.40003	D	0.975195	B;B;B	0.24186	0.099;0.026;0.003	B;B;B	0.25987	0.036;0.065;0.015	T	0.20672	-1.0268	10	0.15499	T	0.54	-12.4417	18.3036	0.90172	0.0:0.0:1.0:0.0	.	83;92;92	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	K	92;92;24	ENSP00000336701:E92K;ENSP00000391450:E92K;ENSP00000407282:E24K	ENSP00000336701:E92K	E	+	1	0	RAD51C	54127419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.660000	0.90430	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	1	0	1	74	263	0	71	1	1	24	79	0	71	2		0	0	0	0	0	2	1	1	73	262	0	71	2								-3.903190	1	1	121412	2	34	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD51C	5889	broad.mit.edu	37	17	56811478	56811478	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56811478G>T	ENST00000337432.4	+	9	1097		c.e9-1			NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C			1	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TTATCTTTCAGCCTCAGGGAT	0.338000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2															0							SO:0001630	splice_region_variant	Familial Cancer Database	BRCAX	ENST00000337432.4	0	1	hg19	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685825	0.47991	.	.	ENSG00000108384	ENST00000337432;ENST00000413590	.	.	.	4.88	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2265	0.37410	0.0982:0.0:0.9018:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD51C	54166477	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	3.795000	0.55499	1.435000	0.47434	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	0	0	0	12	71	0	28	0	0	0	1	0	28	2		0	0	0	0	0	2	1	9.993589e-01	12	71	0	27	2								-19.901230	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.940000	1.000000	1.000000	0.995760	0.990000	1	9.900000e-01	1
PPM1E	22843	broad.mit.edu	37	17	56833506	56833506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56833506G>A	ENST00000308249.2	+	1	277	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E			33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		gcccgagcccgaacctgaacT	0.706000																								0							SO:0001583	missense			ENST00000308249.2	0	1	hg19	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595250	0.46318	.	.	ENSG00000175175	ENST00000308249	T	0.24350	1.86	4.15	3.08	0.35506	.	1.475580	0.05101	U	0.487086	T	0.14056	0.0340	N	0.14661	0.345	0.21020	N	0.999802	P	0.37398	0.593	B	0.25884	0.064	T	0.08310	-1.0728	10	0.32370	T	0.25	.	9.2831	0.37740	0.0:0.221:0.7789:0.0	.	50	Q8WY54-2	.	K	50	ENSP00000312411:E50K	ENSP00000312411:E50K	E	+	1	0	PPM1E	54188505	0.968000	0.33430	0.992000	0.48379	0.210000	0.24377	2.666000	0.46799	2.017000	0.59298	0.462000	0.41574	GAA		TCGA-IB-7651-01A-11D-2154-08	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	0	0	0	14	54	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.997607e-01	14	49	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999773	0.990000	1	9.900000e-01	1
TRIM37	4591	broad.mit.edu	37	17	57089767	57089767	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57089767T>G	ENST00000262294.7	-	22	2876	c.2617A>C	c.(2617-2619)Act>Cct	p.T873P	TRIM37_ENST00000376149.3_Missense_Mutation_p.T751P|TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37			37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				TCCAAATCAGTCATCTGCAGT	0.373000									Mulibrey Nanism															0							SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	ENST00000262294.7	1	1	hg19	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416675	0.25552	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.66099	1.58;1.58;-0.19;1.19	6.07	2.57	0.30868	.	0.517276	0.21572	N	0.072381	T	0.38772	0.1053	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30361	0.277;0.0;0.0	B;B;B	0.30943	0.122;0.001;0.0	T	0.22452	-1.0216	10	0.39692	T	0.17	-6.1307	0.8622	0.01195	0.151:0.2499:0.1567:0.4424	.	839;751;873	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	P	873;873;751;839	ENSP00000376785:T873P;ENSP00000262294:T873P;ENSP00000365319:T751P;ENSP00000376784:T839P	ENSP00000262294:T873P	T	-	1	0	TRIM37	54444549	0.014000	0.17966	0.257000	0.24404	0.978000	0.69477	-0.062000	0.11674	0.151000	0.19162	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	1	0	1	69	238	0	46	1	9.999959e-01	22	44	0	46	2		0	0	0	0	0	2	1	1	65	230	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM37	4591	broad.mit.edu	37	17	57165749	57165749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57165749C>T	ENST00000262294.7	-	4	443	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K|TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37			37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				TTTACTAGTTCTCGTAGCTGG	0.363000									Mulibrey Nanism															0							SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	ENST00000262294.7	1	1	hg19	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426551	0.96131	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000393065	T;T;T	0.17213	2.29;2.29;2.29	5.2	5.2	0.72013	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.29908	0.895	0.80722	D	1	D;B	0.64830	0.994;0.128	P;B	0.62184	0.899;0.073	T	0.02226	-1.1192	10	0.54805	T	0.06	-16.9086	18.3457	0.90321	0.0:1.0:0.0:0.0	.	28;62	F8WEE6;O94972	.;TRI37_HUMAN	K	62;62;28	ENSP00000376785:E62K;ENSP00000262294:E62K;ENSP00000376784:E28K	ENSP00000262294:E62K	E	-	1	0	TRIM37	54520531	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.647000	0.83462	2.445000	0.82738	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	1	0	1	16	177	0	27	1	9.108463e-01	7	42	0	27	2		0	0	0	0	0	2	1	9.999352e-01	16	173	0	27	2								-19.985890	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.600000	1.000000	1.000000	0.919615	0.990000	1	7.800000e-01	1
YPEL2	388403	broad.mit.edu	37	17	57466830	57466830	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57466830G>A	ENST00000312655.4	+	4	588		c.e4+1		YPEL2_ENST00000585166.1_Splice_Site|YPEL2_ENST00000581865.1_Splice_Site	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)			5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)				CTGGAAATACGTAAGTATAAA	0.498000													Melanoma(86;1113 1364 8518 42220 42625)											0							SO:0001630	splice_region_variant			ENST00000312655.4	0	1	hg19	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615140	0.87359	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5633	0.95382	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YPEL2	54821612	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.869000	0.98440	0.558000	0.71614	.		TCGA-IB-7651-01A-11D-2154-08	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	0	0	0	6	143	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.637221e-01	5	141	0	33	2								-8.858006	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.520000	0.210000	1.000000	0.460000	0.568692	0.520000	0	3.400000e-01	8.200000e-01
DHX40	79665	broad.mit.edu	37	17	57651186	57651186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57651186C>T	ENST00000251241.4	+	5	779	c.632C>T	c.(631-633)gCa>gTa	p.A211V	DHX40_ENST00000451169.2_Missense_Mutation_p.A112V|DHX40_ENST00000425628.3_Missense_Mutation_p.A134V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40			20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)				GTAATGTCAGCAACTATGGAA	0.358000																								0							SO:0001583	missense			ENST00000251241.4	1	1	hg19	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416047	0.96092	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.59772	0.24;0.24	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.956	D	0.90169	0.4234	10	0.87932	D	0	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	134;211	F5H625;Q8IX18	.;DHX40_HUMAN	V	211;134;211;112	ENSP00000251241:A211V;ENSP00000396039:A112V	ENSP00000251241:A211V	A	+	2	0	DHX40	55005968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.777000	0.95525	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	1	0	0	45	217	0	51	1	9.998122e-01	13	52	0	51	2		0	0	0	0	0	2	1	1	44	211	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLTC	1213	broad.mit.edu	37	17	57741290	57741290	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57741290A>G	ENST00000269122.3	+	9	1730	c.1456A>G	c.(1456-1458)Aat>Gat	p.N486D	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.N486D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)		CLTC/ALK(44)|CLTC/TFE3(2)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)				TAACGTCCCAAATAAAGTCAT	0.398000			T	ALK, TFE3	ALCL, renal 										Dom	yes		17	17q11-qter	1213	clathrin, heavy polypeptide (Hc)		L	0							SO:0001583	missense			ENST00000269122.3	1	1	hg19	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025966	0.54683	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21191	2.02;2.02	5.38	5.38	0.77491	Armadillo-type fold (2);	0.043136	0.85682	D	0.000000	T	0.18383	0.0441	L	0.41027	1.25	0.80722	D	1	B;B	0.20550	0.046;0.0	B;B	0.20384	0.029;0.006	T	0.05616	-1.0874	10	0.11794	T	0.64	.	15.6795	0.77357	1.0:0.0:0.0:0.0	.	486;486	Q00610;Q00610-2	CLH1_HUMAN;.	D	486	ENSP00000269122:N486D;ENSP00000376763:N486D	ENSP00000269122:N486D	N	+	1	0	CLTC	55096072	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.161000	0.67846	0.460000	0.39030	AAT		TCGA-IB-7651-01A-11D-2154-08	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	1	0	1	86	351	0	89	1	1	97	348	0	89	2		0	0	0	0	0	2	1	1	85	347	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLTC	1213	broad.mit.edu	37	17	57758684	57758684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57758684G>A	ENST00000269122.3	+	20	3368	c.3094G>A	c.(3094-3096)Gca>Aca	p.A1032T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)		CLTC/ALK(44)|CLTC/TFE3(2)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)				TATCCTCACTGCAATTAAGGC	0.358000			T	ALK, TFE3	ALCL, renal 										Dom	yes		17	17q11-qter	1213	clathrin, heavy polypeptide (Hc)		L	0							SO:0001583	missense			ENST00000269122.3	1	1	hg19	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310739	0.95629	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21932	1.98;1.98	5.41	5.41	0.78517	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.999;0.992	T	0.65776	-0.6086	10	0.87932	D	0	.	19.5641	0.95386	0.0:0.0:1.0:0.0	.	1032;1032	Q00610;Q00610-2	CLH1_HUMAN;.	T	1032	ENSP00000269122:A1032T;ENSP00000376763:A1032T	ENSP00000269122:A1032T	A	+	1	0	CLTC	55113466	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.813000	0.99286	2.680000	0.91292	0.557000	0.71058	GCA		TCGA-IB-7651-01A-11D-2154-08	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	1	0	1	77	293	0	68	1	1	224	625	0	68	2		0	0	0	0	0	2	1	1	77	287	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBD1	51174	broad.mit.edu	37	17	57963577	57963577	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57963577C>T	ENST00000592426.1	-	2	187	c.187G>A	c.(187-189)Gct>Act	p.A63T	TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.A63T|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T			Q9UJT1	TBD_HUMAN	tubulin, delta 1			21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)	Vinblastine(DB00570)	ACAAGAACAGCCCGGGCAATT	0.413000																								0							SO:0001583	missense			ENST00000592426.1	1	1	hg19	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970893	0.92919	0.0	1.16E-4	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.047647	0.85682	D	0.000000	D	0.86818	0.6024	M	0.84585	2.705	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.984;0.987;0.99	D;P;P;D	0.73380	0.98;0.85;0.901;0.94	D	0.87265	0.2282	10	0.87932	D	0	-20.964	20.6634	0.99662	0.0:1.0:0.0:0.0	.	63;63;63;63	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	T	63	ENSP00000320797:A63T;ENSP00000342399:A63T;ENSP00000377785:A63T;ENSP00000365262:A63T	ENSP00000320797:A63T	A	-	1	0	TUBD1	55318359	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.416000	0.59815	2.894000	0.99253	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	1	0	0	25	255	0	48	1	7.625011e-01	5	25	0	48	2		0	0	0	0	0	2	1	9.999998e-01	24	250	0	48	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.710000	1.000000	1.000000	0.957835	0.990000	1	8.800000e-01	1
RNFT1	51136	broad.mit.edu	37	17	58033915	58033915	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58033915C>A	ENST00000305783.8	-	7	1061		c.e7-1		RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Splice_Site	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1			9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		ATTCCAAAAGCTGAAAAGAGA	0.303000																								0							SO:0001630	splice_region_variant			ENST00000305783.8	1	1	hg19	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	c	14.27	2.486454	0.44249	.	.	ENSG00000189050	ENST00000305783	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0542	0.89358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNFT1	55388697	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	5.784000	0.68990	2.486000	0.83907	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	1	0	1	21	123	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.999979e-01	20	119	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999427	0.990000	1	9.900000e-01	1
USP32	84669	broad.mit.edu	37	17	58259106	58259106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58259106G>T	ENST00000300896.4	-	32	4321	c.4127C>A	c.(4126-4128)tCt>tAt	p.S1376Y	USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32			62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		TGAAGAAGGAGAACCTGTGAA	0.483000																								0							SO:0001583	missense			ENST00000300896.4	0	1	hg19	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331647	0.60853	.	.	ENSG00000170832	ENST00000300896	T	0.54675	0.56	5.73	5.73	0.89815	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053759	0.85682	D	0.000000	T	0.61825	0.2378	L	0.29908	0.895	0.80722	D	1	D	0.59767	0.986	P	0.62184	0.899	T	0.63278	-0.6673	10	0.72032	D	0.01	.	19.2507	0.93923	0.0:0.0:1.0:0.0	.	1376	Q8NFA0	UBP32_HUMAN	Y	1376	ENSP00000300896:S1376Y	ENSP00000300896:S1376Y	S	-	2	0	USP32	55613888	1.000000	0.71417	0.993000	0.49108	0.220000	0.24768	8.998000	0.93550	2.868000	0.98415	0.555000	0.69702	TCT		TCGA-IB-7651-01A-11D-2154-08	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	1	0	1	33	154	0	55	1	9.997458e-01	32	31	0	55	2		0	0	0	0	0	2	1	9.999996e-01	15	99	0	71	2								-3.432209	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
USP32	84669	broad.mit.edu	37	17	58260584	58260584	+	Silent	SNP	G	G	A	rs144453913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58260584G>A	ENST00000300896.4	-	31	4259	c.4065C>T	c.(4063-4065)gaC>gaT	p.D1355D	USP32_ENST00000592339.1_Silent_p.D1025D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32			62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		TCAGGAGCACGTCCTCTTCCC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000300896.4	1	1	hg19	CCDS32697.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	1	0	1	75	331	0	86	1	1	4	126	0	86	2		0	0	0	0	0	2	1	1	74	325	0	86	2								-20.000000	1	1	121412	6	40	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP32	84669	broad.mit.edu	37	17	58262867	58262867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58262867C>T	ENST00000300896.4	-	30	3982	c.3788G>A	c.(3787-3789)tGc>tAc	p.C1263Y	USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32			62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		TGTTGCTAAGCAGTGGGTCTT	0.502000																								0							SO:0001583	missense			ENST00000300896.4	1	1	hg19	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770304	0.90108	.	.	ENSG00000170832	ENST00000300896	T	0.28666	1.6	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.043342	0.85682	D	0.000000	T	0.38268	0.1034	L	0.43152	1.355	0.80722	D	1	D	0.56287	0.975	P	0.48334	0.574	T	0.12941	-1.0528	10	0.59425	D	0.04	.	19.6082	0.95588	0.0:1.0:0.0:0.0	.	1263	Q8NFA0	UBP32_HUMAN	Y	1263	ENSP00000300896:C1263Y	ENSP00000300896:C1263Y	C	-	2	0	USP32	55617649	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.786000	0.85741	2.637000	0.89404	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	0	0	1	90	447	0	124	1	9.999972e-01	39	53	0	124	2		0	0	0	0	0	2	1	1	83	402	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP32	84669	broad.mit.edu	37	17	58286188	58286188	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286188G>A	ENST00000300896.4	-	23	2794	c.2600C>T	c.(2599-2601)gCc>gTc	p.A867V	USP32_ENST00000592339.1_Splice_Site_p.A537V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32			62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		GTTGTCCCAGGCCTAGCAATA	0.323000																								0							SO:0001630	splice_region_variant			ENST00000300896.4	1	0	hg19	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323071	0.95708	.	.	ENSG00000170832	ENST00000300896	T	0.31247	1.5	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.47586	-0.9106	10	0.56958	D	0.05	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	867	Q8NFA0	UBP32_HUMAN	V	867	ENSP00000300896:A867V	ENSP00000300896:A867V	A	-	2	0	USP32	55640970	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.807000	0.99171	2.733000	0.93635	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	1	0	1	44	262	0	45	1	9.965160e-01	15	39	0	45	2		0	0	0	0	0	2	1	1	42	256	0	45	2								-19.943920	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
USP32	84669	broad.mit.edu	37	17	58422960	58422960	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58422960A>G	ENST00000300896.4	-	2	262	c.68T>C	c.(67-69)gTa>gCa	p.V23A	USP32_ENST00000393003.3_Missense_Mutation_p.V23A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32			62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		TTTTAGCTCTACATCTGTAAC	0.433000																								0							SO:0001583	missense			ENST00000300896.4	1	1	hg19	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	7.100	0.573970	0.13623	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.39997	1.05;1.05	4.93	4.93	0.64822	EF-hand-like domain (1);	0.347798	0.28847	N	0.013949	T	0.30947	0.0781	L	0.38531	1.155	0.40988	D	0.984836	B;B	0.23316	0.083;0.002	B;B	0.19946	0.027;0.002	T	0.10823	-1.0613	10	0.07482	T	0.82	.	14.3196	0.66476	1.0:0.0:0.0:0.0	.	23;23	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	A	23	ENSP00000300896:V23A;ENSP00000376727:V23A	ENSP00000300896:V23A	V	-	2	0	USP32	55777742	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.133000	0.77259	1.867000	0.54127	0.444000	0.29173	GTA		TCGA-IB-7651-01A-11D-2154-08	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	1	0	1	57	282	0	80	1	9.686824e-01	8	22	0	80	2		0	0	0	0	0	2	1	1	55	276	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf64	124773	broad.mit.edu	37	17	58506770	58506770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58506770C>T	ENST00000269127.4	+	5	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64			6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)		TGCTGGCCGACCGGGAAGACA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000269127.4	1	1	hg19	CCDS32698.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	0	0	1	52	188	1	46		0	0	0	1	46	2		0	0	0	0	0	2	1	9.999985e-01	51	184	1	46	17								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59112065C>T	ENST00000390652.5	+	18	1752	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000589222.1_Missense_Mutation_p.S559L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3			44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		CCCAGCAAATCGATGGGCGGA	0.348000																								0							SO:0001583	missense			ENST00000390652.5	1	1	hg19	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457450	0.96240	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.34275	1.43;1.39;1.37	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;D;D;D	0.69078	0.997;0.988;0.995;0.997;0.997;0.997	D;P;P;D;D;D	0.72982	0.979;0.569;0.731;0.964;0.979;0.964	T	0.49661	-0.8916	10	0.51188	T	0.08	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	350;559;574;559;574;559	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;BCAS3_HUMAN;.	L	574;559;589;559;351	ENSP00000375067:S574L;ENSP00000385323:S559L;ENSP00000386173:S559L	ENSP00000353336:S351L	S	+	2	0	BCAS3	56466847	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	1	0	1	84	296	0	59	1	9.999993e-01	16	59	0	59	2		0	0	0	0	0	2	1	1	83	293	0	56	2								-3.983801	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBX2	6909	broad.mit.edu	37	17	59482854	59482854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59482854C>T	ENST00000240328.3	+	6	1624	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2			9					CAGGGCCTGGCGCCGCTGGTG	0.711000													GBM(3;187 253 11467 14965 23079)											0							SO:0001583	missense			ENST00000240328.3	0	1	hg19	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920502	0.73213	.	.	ENSG00000121068	ENST00000240328	D	0.86865	-2.18	4.34	4.34	0.51931	.	0.175525	0.48767	D	0.000165	T	0.80341	0.4605	L	0.38838	1.175	0.50039	D	0.999841	B	0.30709	0.291	B	0.13407	0.009	T	0.79857	-0.1626	10	0.44086	T	0.13	.	15.5774	0.76404	0.0:1.0:0.0:0.0	.	448	Q13207	TBX2_HUMAN	V	448	ENSP00000240328:A448V	ENSP00000240328:A448V	A	+	2	0	TBX2	56837636	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.513000	0.53414	2.240000	0.73641	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	0	0	0	4	40	0	10	0	7.511943e-01	0	28	0	10	2		0	0	0	0	0	2	1	8.934749e-01	4	40	0	10	2								-9.397790	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.400000	1.000000	1.000000	0.894245	0.990000	1	7.000000e-01	1
TBX4	9496	broad.mit.edu	37	17	59560702	59560702	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59560702G>A	ENST00000240335.1	+	8	1508	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.S489N	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4			40					CGGGGGCCCAGCGCCTCATTC	0.597000																								0							SO:0001583	missense			ENST00000240335.1	1	1	hg19	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.501072	0.12822	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.42131	0.98;0.98	5.34	0.827	0.18835	.	1.492660	0.03395	N	0.202441	T	0.39064	0.1064	L	0.34521	1.04	0.09310	N	1	B;B	0.15719	0.014;0.003	B;B	0.12837	0.008;0.002	T	0.42310	-0.9459	9	.	.	.	.	17.2199	0.86954	0.0:0.4701:0.5299:0.0	.	489;488	A5PKU7;P57082	.;TBX4_HUMAN	N	489;488	ENSP00000377435:S489N;ENSP00000240335:S488N	.	S	+	2	0	TBX4	56915484	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	0.481000	0.22260	-0.046000	0.13446	-0.165000	0.13383	AGC		TCGA-IB-7651-01A-11D-2154-08	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	1	0	1	71	302	0	62	1	3.727660e-02	2	0	0	62	2		0	0	0	0	0	2	1	1	69	296	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACA2	342538	broad.mit.edu	37	17	59668386	59668386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59668386C>T	ENST00000521764.1	-	1	177	c.156G>A	c.(154-156)tgG>tgA	p.W52*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2			12	all_epithelial(1;3.12e-14)				CTGCCACCAGCCAGGCTTTTT	0.512000																								0							SO:0001587	stop_gained			ENST00000521764.1	0	1	hg19	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043673	0.36085	.	.	ENSG00000253506	ENST00000521764	.	.	.	0.753	0.753	0.18404	.	0.213702	0.30093	U	0.010435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	.	W	-	3	0	NACA2	57023168	1.000000	0.71417	0.296000	0.24974	0.035000	0.12851	4.906000	0.63293	0.702000	0.31825	0.411000	0.27672	TGG		TCGA-IB-7651-01A-11D-2154-08	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	1	0	0	153	646	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1	147	632	0	147	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRIP1	83990	broad.mit.edu	37	17	59760907	59760907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59760907G>A	ENST00000259008.2	-	20	3767	c.3500C>T	c.(3499-3501)gCt>gTt	p.A1167V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1			55					AAGGTCTTTAGCTAAAATGCA	0.338000			F, N, Mis			AML, leukemia, breast		Involved in tolerance or repair of DNA crosslinks						yes	Rec		Fanconi anaemia J, breast cancer susceptiblity	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		L, E	0							SO:0001583	missense			ENST00000259008.2	1	1	hg19	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	9.160	1.018504	0.19355	.	.	ENSG00000136492	ENST00000259008	T	0.78481	-1.18	5.69	4.72	0.59763	.	0.908560	0.09403	N	0.806853	T	0.64438	0.2598	N	0.17082	0.46	0.80722	D	1	B	0.18610	0.029	B	0.17722	0.019	T	0.50233	-0.8852	9	.	.	.	-2.3141	11.8611	0.52467	0.0815:0.0:0.9185:0.0	.	1167	Q9BX63	FANCJ_HUMAN	V	1167	ENSP00000259008:A1167V	.	A	-	2	0	BRIP1	57115689	0.051000	0.20477	0.861000	0.33841	0.098000	0.18820	0.409000	0.21082	1.400000	0.46741	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	1	0	1	43	191	0	36	0	2.362666e-01	0	5	0	36	2		0	0	0	0	0	2	1	1	42	187	0	36	2								-19.999990	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WSCD1	23302	broad.mit.edu	37	17	5991326	5991326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5991326C>A	ENST00000574946.1	+	3	834	c.444C>A	c.(442-444)tgC>tgA	p.C148*	WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*			Q658N2	WSCD1_HUMAN	WSC domain containing 1			35					ACATTGGATGCTTCAGTGACG	0.537000																								0							SO:0001587	stop_gained			ENST00000574946.1	0	1	hg19	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311578	0.95655	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	.	.	.	5.97	0.48	0.16804	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.1992	5.589	0.17291	0.0:0.5469:0.1346:0.3186	.	.	.	.	X	148	.	ENSP00000323087:C148X	C	+	3	2	WSCD1	5932050	0.993000	0.37304	0.990000	0.47175	0.070000	0.16714	0.321000	0.19558	0.098000	0.17522	-0.140000	0.14226	TGC		TCGA-IB-7651-01A-11D-2154-08	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	1	0	0	18	397	0	76	0	2.180074e-03	0	2	0	76	2		0	0	0	0	0	2	1	9.999793e-01	17	389	0	76	2								-3.318794	1	1	121412	1	30	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.540000	0.320000	1.000000	0.510000	0.584330	0.540000	0	4.100000e-01	7.300000e-01
INTS2	57508	broad.mit.edu	37	17	59947320	59947320	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59947320C>T	ENST00000444766.3	-	21	2907	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	INTS2_ENST00000251334.6_Silent_p.E936E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2			38					GTAGGCAAATCTCTAAGAGAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000444766.3	0	1	hg19	CCDS45750.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	0	0	0	8	248	0	63	0	3.535398e-01	0	36	0	63	2		0	0	0	0	0	2	1	9.895182e-01	8	247	0	62	2								-9.806611	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.400000	0.180000	1.000000	0.360000	0.454400	0.400000	0	2.700000e-01	6.000000e-01
MED13	9969	broad.mit.edu	37	17	60028352	60028352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60028352C>T	ENST00000397786.2	-	28	6201	c.6125G>A	c.(6124-6126)aGt>aAt	p.S2042N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13			88					CCGATCAGTACTCTGACCCTT	0.378000																								0							SO:0001583	missense			ENST00000397786.2	1	1	hg19	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781751	0.16120	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	6.04	6.04	0.98038	.	0.086896	0.85682	D	0.000000	T	0.78413	0.4279	L	0.43152	1.355	0.40256	D	0.978125	B	0.02656	0.0	B	0.08055	0.003	T	0.72567	-0.4254	10	0.10111	T	0.7	-14.3882	20.5792	0.99380	0.0:1.0:0.0:0.0	.	2042	Q9UHV7	MED13_HUMAN	N	2042;2041	ENSP00000380888:S2042N	ENSP00000262436:S2041N	S	-	2	0	MED13	57383134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.735000	0.68587	2.873000	0.98535	0.561000	0.74099	AGT		TCGA-IB-7651-01A-11D-2154-08	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	1	0	1	54	267	0	62	1	9.999997e-01	34	80	0	62	2		0	0	0	0	0	2	1	1	53	265	0	59	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED13	9969	broad.mit.edu	37	17	60042453	60042453	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60042453C>T	ENST00000397786.2	-	20	4834	c.4758G>A	c.(4756-4758)ggG>ggA	p.G1586G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13			88					ATGTCTGTTGCCCTCCTAGCT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000397786.2	1	1	hg19	CCDS42366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	1	0	1	52	212	0	61	1	1	24	101	0	61	2		0	0	0	0	0	2	1	1	50	209	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED13	9969	broad.mit.edu	37	17	60062374	60062374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60062374C>T	ENST00000397786.2	-	13	2539	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13			88					TGCAAGATAACGGGTCCAGAT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000397786.2	1	1	hg19	CCDS42366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	1	0	1	115	601	0	161	1	9.999311e-01	16	57	0	161	2		0	0	0	0	0	2	1	1	113	599	0	159	2								-20.000000	1	1	120814	1	31	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB3	146779	broad.mit.edu	37	17	60484019	60484019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60484019C>A	ENST00000305286.3	+	7	745	c.667C>A	c.(667-669)Ctt>Att	p.L223I	EFCAB3_ENST00000450662.2_Missense_Mutation_p.L275I	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3			17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		ATTTAAATTTCTTGAAGAGCT	0.393000																								0							SO:0001583	missense			ENST00000305286.3	1	1	hg19	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483978	0.63962	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.67865	-0.29;-0.23	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000085	T	0.80839	0.4700	M	0.75777	2.31	0.35585	D	0.806632	D	0.76494	0.999	D	0.76071	0.987	D	0.86008	0.1499	10	0.87932	D	0	.	14.4283	0.67230	0.0:1.0:0.0:0.0	.	223	Q8N7B9	EFCB3_HUMAN	I	275;223	ENSP00000403932:L275I;ENSP00000302649:L223I	ENSP00000302649:L223I	L	+	1	0	EFCAB3	57837751	0.998000	0.40836	1.000000	0.80357	0.629000	0.37895	1.748000	0.38308	2.785000	0.95823	0.591000	0.81541	CTT		TCGA-IB-7651-01A-11D-2154-08	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	1	0	1	46	222	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	46	218	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
METTL2A	339175	broad.mit.edu	37	17	60503706	60503706	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60503706A>C	ENST00000311506.5	+	3	285	c.249A>C	c.(247-249)aaA>aaC	p.K83N		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A			6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		ACTTCTACAAAATCCACGAAA	0.338000																								0							SO:0001583	missense			ENST00000311506.5	0	1	hg19	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698488	0.30142	.	.	ENSG00000087995	ENST00000311506;ENST00000333483	T	0.03951	3.75	5.14	4.06	0.47325	.	0.134389	0.64402	D	0.000003	T	0.09024	0.0223	M	0.84433	2.695	0.31216	N	0.69804	B	0.14805	0.011	B	0.17722	0.019	T	0.03354	-1.1045	10	0.52906	T	0.07	-3.801	6.1331	0.20217	0.7528:0.1626:0.0846:0.0	.	83	Q96IZ6	MTL2A_HUMAN	N	83	ENSP00000309610:K83N	ENSP00000309610:K83N	K	+	3	2	METTL2A	57857438	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	1.612000	0.36889	0.909000	0.36697	0.454000	0.30748	AAA		TCGA-IB-7651-01A-11D-2154-08	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	0	0	0	49	200	0	44	1	9.939408e-01	10	25	0	44	2		0	0	0	0	0	2	1	1	41	165	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
METTL2A	339175	broad.mit.edu	37	17	60504005	60504005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60504005G>A	ENST00000311506.5	+	3	584	c.548G>A	c.(547-549)cGa>cAa	p.R183Q		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A			6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		GCCACCTACCGAATACTGGAG	0.413000																								0							SO:0001583	missense			ENST00000311506.5	0	1	hg19	CCDS45752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.118826|5.118826	0.94385|0.94385	.|.	.|.	ENSG00000087995|ENSG00000087995	ENST00000333483|ENST00000311506	.|T	.|0.16743	.|2.32	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42381|0.42381	0.1200|0.1200	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.64042	.|0.921	T|T	0.37197|0.37197	-0.9716|-0.9716	6|10	0.29301|0.54805	T|T	0.29|0.06	0.0705|0.0705	15.4721|15.4721	0.75446|0.75446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|183	.|Q96IZ6	.|MTL2A_HUMAN	K|Q	182|183	.|ENSP00000309610:R183Q	ENSP00000331401:E182K|ENSP00000309610:R183Q	E|R	+|+	1|2	0|0	METTL2A|METTL2A	57857737|57857737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.073000|9.073000	0.93992|0.93992	2.431000|2.431000	0.82371|0.82371	0.555000|0.555000	0.69702|0.69702	GAA|CGA		TCGA-IB-7651-01A-11D-2154-08	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	0	0	0	16	62	0	15	0	1.995858e-01	1	3	0	15	2		0	0	0	0	0	2	1	9.992780e-01	9	43	0	27	2								-20.000000	1	1	120158	3	32	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999895	0.990000	1	9.900000e-01	1
METTL2A	339175	broad.mit.edu	37	17	60518112	60518112	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60518112A>G	ENST00000311506.5	+	6	840	c.804A>G	c.(802-804)ccA>ccG	p.P268P		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A			6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		CAATTGTTCCAGACAAGTAAG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000311506.5	1	1	hg19	CCDS45752.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	1	0	1	137	642	0	161	1	9.999994e-01	19	76	0	161	2		0	0	0	0	0	2	1	1	133	603	0	170	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
METTL2A	339175	broad.mit.edu	37	17	60522267	60522267	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60522267C>T	ENST00000311506.5	+	7	915	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A			6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		TGCGAGATTACGGCCGCTATG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000311506.5	1	1	hg19	CCDS45752.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	1	0	1	36	185	0	55	1	9.999985e-01	38	73	0	55	2		0	0	0	0	0	2	1	1	36	179	0	55	2								-3.359809	1	1	121412	8	39	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TLK2	11011	broad.mit.edu	37	17	60642396	60642396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60642396G>T	ENST00000326270.9	+	11	1134	c.866G>T	c.(865-867)aGc>aTc	p.S289I	TLK2_ENST00000346027.5_Missense_Mutation_p.S289I|TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|TLK2_ENST00000582809.1_Missense_Mutation_p.S140I	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2			39					AGAGATAAGAGCATGCAAGAC	0.413000																								0							SO:0001583	missense			ENST00000326270.9	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.71	2.913136	0.52439	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66099	-0.14;-0.19;-0.15;-0.19	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	L	0.36672	1.1	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.094;0.409	D;B;B;B	0.87578	0.998;0.032;0.108;0.119	T	0.63659	-0.6587	10	0.18710	T	0.47	.	17.2555	0.87055	0.0:0.0:1.0:0.0	.	289;257;289;289	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	I	289;257;289;257	ENSP00000275780:S289I;ENSP00000340800:S257I;ENSP00000316512:S289I;ENSP00000442311:S257I	ENSP00000316512:S289I	S	+	2	0	TLK2	57996128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.558000	0.86282	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	1	0	1	54	237	0	54	1	9.999718e-01	12	59	0	54	2		0	0	0	0	0	2	1	1	53	234	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLK2	11011	broad.mit.edu	37	17	60685440	60685440	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685440A>G	ENST00000326270.9	+	22	2344	c.2076A>G	c.(2074-2076)caA>caG	p.Q692Q	TLK2_ENST00000346027.5_Silent_p.Q670Q|TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000343388.7_Silent_p.Q638Q|TLK2_ENST00000582809.1_Silent_p.Q521Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2			39					ACATCCTACAAGAGAATACGA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000326270.9	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	1	0	1	58	244	0	48	1	9.975339e-01	10	31	0	48	2		0	0	0	0	0	2	1	1	58	240	0	49	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLK2	11011	broad.mit.edu	37	17	60685485	60685485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685485G>A	ENST00000326270.9	+	22	2389	c.2121G>A	c.(2119-2121)aaG>aaA	p.K707K	TLK2_ENST00000346027.5_Silent_p.K685K|TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000343388.7_Silent_p.K653K|TLK2_ENST00000582809.1_Silent_p.K536K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2			39					TCCCGCCAAAGCCAGTAGTAA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000326270.9	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	1	0	1	37	195	0	38	1	9.999998e-01	19	112	0	38	2		0	0	0	0	0	2	1	1	37	192	0	38	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
MRC2	9902	broad.mit.edu	37	17	60744886	60744886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60744886C>T	ENST00000303375.5	+	6	1511	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2			53					GCCGAGCCCACCCCTCCAGGT	0.692000																								0							SO:0001583	missense			ENST00000303375.5	1	1	hg19	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513668	0.27123	.	.	ENSG00000011028	ENST00000303375	T	0.06933	3.24	4.69	-1.81	0.07882	C-type lectin-like (1);	0.910434	0.09602	N	0.780066	T	0.02083	0.0065	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	10	0.20519	T	0.43	-4.4615	1.3201	0.02114	0.1546:0.241:0.1522:0.4521	.	370	Q9UBG0	MRC2_HUMAN	I	370	ENSP00000307513:T370I	ENSP00000307513:T370I	T	+	2	0	MRC2	58098618	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	0.366000	0.20365	-0.496000	0.06650	-0.379000	0.06801	ACC		TCGA-IB-7651-01A-11D-2154-08	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1	1	0	0	34	296	0	60	0	9.999999e-01	0	226	0	60	2		0	0	0	0	0	2	1	1	33	289	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.870000	1.000000	1.000000	0.991653	0.990000	1	9.900000e-01	1
MRC2	9902	broad.mit.edu	37	17	60757183	60757183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60757183G>A	ENST00000303375.5	+	14	2620	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2			53					CGAGATCCACGAGCAGCACTG	0.632000																								0							SO:0001583	missense			ENST00000303375.5	1	1	hg19	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562535	0.86335	.	.	ENSG00000011028	ENST00000303375	T	0.18960	2.18	4.46	4.46	0.54185	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16217	-1.0410	10	0.16420	T	0.52	-27.2539	16.9236	0.86169	0.0:0.0:1.0:0.0	.	740	Q9UBG0	MRC2_HUMAN	K	740	ENSP00000307513:E740K	ENSP00000307513:E740K	E	+	1	0	MRC2	58110915	1.000000	0.71417	0.990000	0.47175	0.362000	0.29581	7.222000	0.78025	2.310000	0.77875	0.305000	0.20034	GAG		TCGA-IB-7651-01A-11D-2154-08	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1	1	0	1	36	115	0	28	0	1	1	250	0	28	2		0	0	0	0	0	2	1	1	36	113	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRC2	9902	broad.mit.edu	37	17	60767314	60767314	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60767314C>T	ENST00000303375.5	+	25	4035	c.3633C>T	c.(3631-3633)gaC>gaT	p.D1211D	MRC2_ENST00000446119.2_Silent_p.D77D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2			53					GCTGGCAGGACGGGGAGCCGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000303375.5	1	1	hg19	CCDS11634.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1	1	0	0	33	110	0	26	1	1	3	217	0	26	2		0	0	0	0	0	2	1	1	30	109	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARCH10	162333	broad.mit.edu	37	17	60814645	60814645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60814645C>A	ENST00000311269.5	-	6	858	c.584G>T	c.(583-585)aGg>aTg	p.R195M	RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|MARCH10_ENST00000544856.2_Missense_Mutation_p.R194M|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase			38					TTGATTTGGCCTCTTCAGCTT	0.468000																								0							SO:0001583	missense			ENST00000311269.5	1	1	hg19	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107752	0.08780	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.33216	1.42;1.42;1.42	4.98	1.82	0.25136	.	0.185545	0.38164	N	0.001786	T	0.41719	0.1171	M	0.64997	1.995	0.22562	N	0.998987	D;D;D	0.59357	0.975;0.985;0.975	P;P;P	0.55161	0.594;0.77;0.594	T	0.31833	-0.9929	10	0.87932	D	0	-5.5333	10.1264	0.42652	0.0:0.7488:0.0:0.2512	.	194;194;195	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	M	195;195;194	ENSP00000416177:R195M;ENSP00000311496:R195M;ENSP00000443746:R194M	ENSP00000311496:R195M	R	-	2	0	MARCH10	58168377	0.972000	0.33761	0.908000	0.35775	0.230000	0.25150	0.652000	0.24888	-0.072000	0.12864	-1.134000	0.01955	AGG		TCGA-IB-7651-01A-11D-2154-08	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	1	0	1	247	1088	0	231		0	0	0	0	231	2		0	0	0	0	0	2	1	1	241	1064	1	229	20								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC2	26115	broad.mit.edu	37	17	61417467	61417467	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61417467T>G	ENST00000424789.2	+	10	1363	c.1359T>G	c.(1357-1359)gtT>gtG	p.V453V	TANC2_ENST00000389520.4_Silent_p.V453V|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2			44					TGCAGGTGGTTGCCTATCACT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000424789.2	1	1	hg19	CCDS45754.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	1	0	0	14	158	0	45	1	5.855267e-01	2	21	0	45	2		0	0	0	0	0	2	1	9.997675e-01	14	155	0	45	2								-19.545150	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.570000	1.000000	1.000000	0.908620	0.990000	1	7.600000e-01	1
TANC2	26115	broad.mit.edu	37	17	61473130	61473130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61473130G>T	ENST00000424789.2	+	16	2860	c.2856G>T	c.(2854-2856)caG>caT	p.Q952H	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2			44					AGAACGGGCAGTGTGCTTTGG	0.502000																								0							SO:0001583	missense			ENST00000424789.2	0	1	hg19	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502657	0.64298	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.15603	2.41;2.41	5.78	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.31526	0.94	0.52099	D	0.999949	D;D	0.89917	0.998;1.0	D;D	0.83275	0.964;0.996	T	0.03008	-1.1083	10	0.44086	T	0.13	.	15.0437	0.71811	0.0683:0.0:0.9317:0.0	.	952;952	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	952	ENSP00000374171:Q952H;ENSP00000387593:Q952H	ENSP00000374171:Q952H	Q	+	3	2	TANC2	58826862	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.902000	0.63266	1.447000	0.47661	-0.137000	0.14449	CAG		TCGA-IB-7651-01A-11D-2154-08	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	1	0	1	10	100	0	20	1	3.660285e-01	2	11	0	20	2		0	0	0	0	0	2	1	9.971921e-01	10	99	0	20	2								-15.611750	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.570000	1.000000	1.000000	0.933711	0.990000	1	8.100000e-01	1
TANC2	26115	broad.mit.edu	37	17	61497715	61497715	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61497715T>A	ENST00000424789.2	+	25	4376	c.4372T>A	c.(4372-4374)Tca>Aca	p.S1458T	TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2			44					CATCTCCAGCTCACCTCTTGG	0.607000																								0							SO:0001583	missense			ENST00000424789.2	1	1	hg19	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698321	0.68386	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70986	-0.53;-0.53	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.70193	0.3196	N	0.19112	0.55	0.46241	D	0.998941	P	0.49447	0.924	P	0.57776	0.827	T	0.73154	-0.4072	10	0.51188	T	0.08	.	13.7905	0.63138	0.0:0.0:0.0:1.0	.	1458	Q9HCD6	TANC2_HUMAN	T	1468;1458	ENSP00000374171:S1468T;ENSP00000387593:S1458T	ENSP00000374171:S1468T	S	+	1	0	TANC2	58851447	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.808000	0.75206	2.012000	0.59069	0.459000	0.35465	TCA		TCGA-IB-7651-01A-11D-2154-08	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	1	0	1	63	266	0	59	0	9.865273e-01	1	30	0	59	2		0	0	0	0	0	2	1	1	61	257	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC2	26115	broad.mit.edu	37	17	61499068	61499068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61499068G>A	ENST00000424789.2	+	25	5729	c.5725G>A	c.(5725-5727)Gca>Aca	p.A1909T	TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2			44					AACCAACAATGCACAGAATGG	0.542000																								0							SO:0001583	missense			ENST00000424789.2	1	1	hg19	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061563	0.76187	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.68503	-0.5391	10	0.30078	T	0.28	.	18.4431	0.90674	0.0:0.0:1.0:0.0	.	1909	Q9HCD6	TANC2_HUMAN	T	1919;1909	ENSP00000374171:A1919T;ENSP00000387593:A1909T	ENSP00000374171:A1919T	A	+	1	0	TANC2	58852800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.806000	0.86020	2.868000	0.98415	0.555000	0.69702	GCA		TCGA-IB-7651-01A-11D-2154-08	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1	0	0	1	67	262	1	60	1	8.639188e-01	4	25	1	60	4		0	0	0	0	0	2	1	1	62	253	1	60	17								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACE	1636	broad.mit.edu	37	17	61560026	61560026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61560026C>A	ENST00000290866.4	+	8	1342	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	ACE_ENST00000421982.2_5'Flank|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L440M|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000538928.1_Missense_Mutation_p.L440M|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000413513.3_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme			51				Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATCGGCCTGCTGGACCGTGT	0.652000																								0							SO:0001583	missense			ENST00000290866.4	1	0	hg19	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800922	0.50315	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.50548	0.74;0.74;0.74	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.77177	0.4092	M	0.93594	3.435	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.925	D;D;D	0.91635	0.999;0.999;0.94	D	0.84157	0.0426	10	0.72032	D	0.01	-20.1876	17.8129	0.88622	0.0:1.0:0.0:0.0	.	440;440;440	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	M	440	ENSP00000439591:L440M;ENSP00000290866:L440M;ENSP00000397593:L440M	ENSP00000290866:L440M	L	+	1	2	ACE	58913758	0.998000	0.40836	0.999000	0.59377	0.056000	0.15407	3.852000	0.55934	2.434000	0.82447	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2	1	0	0	26	544	0	95	0	8.712913e-01	0	78	0	95	2		0	0	0	0	0	2	1	9.999999e-01	24	536	0	93	2								-5.139542	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.550000	0.360000	1.000000	0.540000	0.591442	0.550000	0	4.500000e-01	7.000000e-01
KCNH6	81033	broad.mit.edu	37	17	61611263	61611263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61611263C>T	ENST00000583023.1	+	5	703	c.692C>T	c.(691-693)gCg>gTg	p.A231V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6			54				Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCCCTGGGCGCGGATGTGCTG	0.687000																								0							SO:0001583	missense			ENST00000583023.1	1	1	hg19	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267669	0.23136	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99060	-5.38;-5.38	3.9	3.9	0.45041	.	0.062977	0.64402	D	0.000007	D	0.99089	0.9687	M	0.76727	2.345	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.868;0.997;0.967	D;D;B;P;P	0.68765	0.96;0.946;0.355;0.886;0.783	D	0.99305	1.0902	10	0.87932	D	0	.	16.4191	0.83752	0.0:1.0:0.0:0.0	.	108;231;231;231;231	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	231	ENSP00000318212:A231V;ENSP00000396900:A231V	ENSP00000318212:A231V	A	+	2	0	KCNH6	58964995	1.000000	0.71417	0.442000	0.26870	0.033000	0.12548	7.601000	0.82783	2.158000	0.67659	0.313000	0.20887	GCG		TCGA-IB-7651-01A-11D-2154-08	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	1	0	1	82	360	0	72	0	3.528697e-02	0	2	0	72	2		0	0	0	0	0	2	1	1	81	346	0	70	2								-20.000000	1	1	121400	8	40	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH6	81033	broad.mit.edu	37	17	61613124	61613124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613124C>T	ENST00000583023.1	+	6	1207	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6			54				Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATGGGGCGGCTGTGCTCTTC	0.612000																								0							SO:0001583	missense			ENST00000583023.1	1	1	hg19	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789243	0.31685	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98531	-4.98;-4.98	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	L	0.48174	1.505	0.80722	D	1	D;B;P;D;D	0.76494	0.995;0.41;0.76;0.974;0.999	D;P;P;D;D	0.78314	0.987;0.573;0.777;0.96;0.991	D	0.99869	1.1093	10	0.87932	D	0	.	17.0722	0.86577	0.0:1.0:0.0:0.0	.	276;399;399;399;399	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	399	ENSP00000318212:A399V;ENSP00000396900:A399V	ENSP00000318212:A399V	A	+	2	0	KCNH6	58966856	1.000000	0.71417	0.206000	0.23566	0.167000	0.22549	7.651000	0.83577	2.244000	0.73946	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	1	0	1	81	326	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	81	324	0	78	2								-20.000000	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRADA	92335	broad.mit.edu	37	17	61781025	61781025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781025G>A	ENST00000336174.6	-	13	1342	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000447001.3_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000392950.4_3'UTR|LIMD2_ENST00000578402.1_5'Flank|STRADA_ENST00000580039.1_5'Flank|STRADA_ENST00000582137.1_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha			13					TTCCACTGTGGTCCTGAGACT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000336174.6	1	1	hg19	CCDS32703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1	1	0	1	43	218	0	51	1	9.999995e-01	30	85	0	51	2		0	0	0	0	0	2	1	1	42	216	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
STRADA	92335	broad.mit.edu	37	17	61781939	61781939	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781939G>A	ENST00000336174.6	-	11	974	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_Silent_p.C172C|STRADA_ENST00000447001.3_Silent_p.L244L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000392950.4_Silent_p.L251L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000582137.1_Silent_p.L259L|STRADA_ENST00000375840.4_Silent_p.L230L	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha			13					TTCTCTAGCAGCATCTGGGGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000336174.6	1	1	hg19	CCDS32703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1	1	0	0	58	247	0	46	1	9.999946e-01	15	64	0	46	2		0	0	0	0	0	2	1	1	58	240	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC47	57003	broad.mit.edu	37	17	61838630	61838630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61838630G>A	ENST00000225726.5	-	5	1011	c.629C>T	c.(628-630)tCt>tTt	p.S210F	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47			18					CACTCGACCAGAACACCACAG	0.438000																								0							SO:0001583	missense			ENST00000225726.5	1	1	hg19	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990571	0.54041	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.85013	0.0907	9	0.87932	D	0	-13.4833	18.8345	0.92155	0.0:0.0:1.0:0.0	.	210;210	Q96A33-2;Q96A33	.;CCD47_HUMAN	F	210	.	ENSP00000225726:S210F	S	-	2	0	CCDC47	59192362	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.662000	0.98603	2.760000	0.94817	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	1	0	1	200	801	0	180	1	1	99	264	0	180	2		0	0	0	0	0	2	1	1	197	770	0	178	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX42	11325	broad.mit.edu	37	17	61890627	61890627	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61890627A>C	ENST00000578681.1	+	16	2316	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	DDX42_ENST00000389924.2_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000457800.2_Missense_Mutation_p.N572T|DDX42_ENST00000583590.1_Missense_Mutation_p.N572T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42			46					ACTGTCATTAACTATGATGTG	0.443000																								0							SO:0001583	missense			ENST00000578681.1	1	1	hg19	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840372	0.91117	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.05580	3.42;3.42	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.039730	0.85682	D	0.000000	T	0.35158	0.0922	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47368	-0.9123	10	0.87932	D	0	-21.2105	15.1322	0.72533	1.0:0.0:0.0:0.0	.	118;572	B3KV84;Q86XP3	.;DDX42_HUMAN	T	572;572;308	ENSP00000374574:N572T;ENSP00000390121:N572T	ENSP00000352308:N308T	N	+	2	0	DDX42	59244359	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.230000	0.72887	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	1	0	1	59	230	0	54	1	1	51	146	0	54	2		0	0	0	0	0	2	1	1	56	227	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMC5	5705	broad.mit.edu	37	17	61908896	61908896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61908896C>T	ENST00000310144.6	+	10	1308	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	PSMC5_ENST00000375812.4_Missense_Mutation_p.R326W|PSMC5_ENST00000581882.1_Missense_Mutation_p.R326W|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_Missense_Mutation_p.R326W	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5			20					GATTCATTCTCGGAAGATGAA	0.547000																								0							SO:0001583	missense			ENST00000310144.6	0	1	hg19	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891103	0.72524	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.79653	-1.29;-1.29	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65773	0.923;0.938	D	0.92590	0.6082	10	0.87932	D	0	.	11.7681	0.51943	0.1752:0.8248:0.0:0.0	.	326;334	A8K3Z3;P62195	.;PRS8_HUMAN	W	334;326	ENSP00000310572:R334W;ENSP00000364970:R326W	ENSP00000310572:R334W	R	+	1	2	PSMC5	59262628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.084000	0.50143	2.861000	0.98227	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	0	0	0	9	486	0	104	1	9.997870e-01	15	893	0	104	2	0	6.931703e-02	0	21	0	9	2	1	9.933818e-01	8	471	0	103	2								-2.841658	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.230000	0.100000	1.000000	0.210000	0.298257	0.230000	0	1.600000e-01	3.400000e-01
SMARCD2	6603	broad.mit.edu	37	17	61910711	61910711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910711C>T	ENST00000448276.2	-	11	1652	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2			8					TCCTGGGGGTCGGTGCTAAAA	0.547000																								0							SO:0001583	missense			ENST00000448276.2	1	1	hg19	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	9.034	0.987974	0.18966	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.57752	0.38;0.44	5.44	5.44	0.79542	.	0.278299	0.45867	D	0.000327	T	0.47967	0.1474	L	0.47078	1.49	0.40283	D	0.978414	B;B;B	0.17465	0.022;0.012;0.021	B;B;B	0.13407	0.004;0.006;0.009	T	0.35943	-0.9768	10	0.32370	T	0.25	-1.9548	16.7916	0.85590	0.0:1.0:0.0:0.0	.	415;426;463	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	463;405;426;415	ENSP00000392617:D463N;ENSP00000318451:D415N	ENSP00000225742:D405N	D	-	1	0	SMARCD2	59264443	0.532000	0.26346	0.983000	0.44433	0.004000	0.04260	0.995000	0.29706	2.833000	0.97629	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	1	0	1	64	321	0	77	1	1	86	299	0	77	2		0	0	0	0	0	2	1	1	64	316	0	76	2								-20.000000	1	0	120938	2	32	1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCD2	6603	broad.mit.edu	37	17	61910761	61910761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910761G>A	ENST00000448276.2	-	11	1602	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F|SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2			8					CTGGTTGATGGACTCAATGGT	0.552000																								0							SO:0001583	missense			ENST00000448276.2	1	1	hg19	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	8.546	0.874368	0.17395	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.46451	0.87;0.88	5.44	5.44	0.79542	.	0.050846	0.85682	D	0.000000	T	0.44201	0.1282	M	0.62016	1.91	0.58432	D	0.999994	B;P;P	0.44521	0.386;0.837;0.837	B;B;B	0.39876	0.053;0.29;0.312	T	0.50642	-0.8804	10	0.72032	D	0.01	-0.0812	16.7916	0.85590	0.0:0.0:1.0:0.0	.	398;409;446	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	F	446;388;409;398	ENSP00000392617:S446F;ENSP00000318451:S398F	ENSP00000225742:S388F	S	-	2	0	SMARCD2	59264493	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.221000	0.72243	2.833000	0.97629	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	0	0	1	90	384	0	112	1	1	96	264	0	112	2		0	0	0	0	0	2	1	1	90	378	0	109	2								-3.380427	1	0	0	0		1	1	2	3	2.007770	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSHL1	1444	broad.mit.edu	37	17	61988202	61988202	+	Silent	SNP	G	G	T	rs112072490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61988202G>T	ENST00000309894.5	-	2	92	c.93C>A	c.(91-93)ccC>ccA	p.P31P	CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000392824.4_Silent_p.P31P|CSHL1_ENST00000346606.6_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1			9					GCCTGGATAAGGGAACGGTTT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000309894.5	1	1	hg19	CCDS11652.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	1	0	1	94	517	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	88	510	0	107	2								-2.774842	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	p.S71S(1)		15					TCACATTGCCGGAGGCGCTGT	0.567000			Mis, O		DLBCL										Dom	yes		17	17q23	974	CD79b molecule, immunoglobulin-associated beta		L	1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000006750.3	1	1	hg19	CCDS11655.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1	1	0	1	34	202	0	61	0	9.806036e-01	1	39	0	61	2		0	0	0	0	0	2	1	1	33	196	0	61	2								-2.626569	1	1	121412	1	31	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999941	0.990000	1	9.900000e-01	1
SCN4A	6329	broad.mit.edu	37	17	62021184	62021184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021184C>T	ENST00000435607.1	-	22	4015	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T	SCN4A_ENST00000578147.1_Silent_p.T1313T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit			101				Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGTTCCTCCGTCATAAAGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000435607.1	1	1	hg19	CCDS45761.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	28	120	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	28	114	0	51	2								-3.366364	1	1	121266	4	33	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SCN4A	6329	broad.mit.edu	37	17	62021185	62021185	+	Missense_Mutation	SNP	G	G	A	rs121908547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021185G>A	ENST00000435607.1	-	22	4014	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	SCN4A_ENST00000578147.1_Missense_Mutation_p.T1313M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	p.T1313M(1)		101				Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGTTCCTCCGTCATAAAGAT	0.552000																								1	Substitution - Missense(1)	GRCh37	CM941270	SCN4A	M	rs121908547	SO:0001583	missense			ENST00000435607.1	1	1	hg19	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074254	0.76415	.	.	ENSG00000007314	ENST00000435607	D	0.97430	-4.38	3.38	3.38	0.38709	.	0.056477	0.64402	N	0.000001	D	0.99064	0.9679	H	0.98738	4.315	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	D	0.98609	1.0662	10	0.72032	D	0.01	.	14.2846	0.66238	0.0:0.0:1.0:0.0	.	1313	P35499	SCN4A_HUMAN	M	1313	ENSP00000396320:T1313M	ENSP00000396320:T1313M	T	-	2	0	SCN4A	59374917	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	9.592000	0.98245	1.903000	0.55091	0.448000	0.29417	ACG		TCGA-IB-7651-01A-11D-2154-08	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	23	124	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	9.999995e-01	23	118	0	51	2								-13.756420	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999839	0.990000	1	9.900000e-01	1
SCN4A	6329	broad.mit.edu	37	17	62026114	62026114	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62026114G>A	ENST00000435607.1	-	16	3077	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit			101				Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGGCCAGCGCTGCACGCAG	0.642000																								0							SO:0001583	missense			ENST00000435607.1	1	1	hg19	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561949	0.45590	0.00161	0.0	ENSG00000007314	ENST00000435607	D	0.86956	-2.19	4.16	3.09	0.35607	Sodium ion transport-associated (1);	0.112431	0.56097	D	0.000024	D	0.92133	0.7506	M	0.87617	2.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.65874	0.939	D	0.90801	0.4694	10	0.38643	T	0.18	.	9.4304	0.38606	0.0:0.0:0.6236:0.3764	.	1001	P35499	SCN4A_HUMAN	C	1001	ENSP00000396320:R1001C	ENSP00000396320:R1001C	R	-	1	0	SCN4A	59379846	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.528000	0.45624	2.324000	0.78689	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	23	108	0	27	0	3.316750e-02	0	2	0	27	2		0	0	0	0	0	2	1	9.999996e-01	23	107	0	26	2								-3.889956	1	1	121250	20	41	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
SCN4A	6329	broad.mit.edu	37	17	62045589	62045589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62045589C>A	ENST00000435607.1	-	6	906	c.830G>T	c.(829-831)aGg>aTg	p.R277M	SCN4A_ENST00000578147.1_Missense_Mutation_p.R277M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit			101				Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACACTTCTGCCTCAGGTTTCC	0.547000																								0							SO:0001583	missense			ENST00000435607.1	1	1	hg19	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562933	0.86335	.	.	ENSG00000007314	ENST00000435607	D	0.98732	-5.1	5.21	5.21	0.72293	Ion transport (1);	0.055852	0.64402	D	0.000002	D	0.99354	0.9773	M	0.93720	3.45	0.49687	D	0.999815	D	0.89917	1.0	D	0.79108	0.992	D	0.98850	1.0758	10	0.54805	T	0.06	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	277	P35499	SCN4A_HUMAN	M	277	ENSP00000396320:R277M	ENSP00000396320:R277M	R	-	2	0	SCN4A	59399321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.717000	0.92951	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	108	387	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	106	380	0	93	2								-4.050360	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ICAM2	3384	broad.mit.edu	37	17	62080179	62080179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62080179C>T	ENST00000412356.1	-	6	1110	c.756G>A	c.(754-756)ttG>ttA	p.L252L	ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000418105.1_Silent_p.L252L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000449662.2_Silent_p.L252L|ICAM2_ENST00000579687.1_Silent_p.L252L|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000579788.1_Silent_p.L252L|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2			6					GCTGCTGGCGCAAGTGCTGGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000412356.1	1	1	hg19	CCDS11657.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1	1	0	0	30	151	0	26	1	1	117	277	0	26	2		0	0	0	0	0	2	1	1	30	148	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
ICAM2	3384	broad.mit.edu	37	17	62082714	62082714	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62082714G>A	ENST00000412356.1	-	4	435	c.81C>T	c.(79-81)ttC>ttT	p.F27F	ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000418105.1_Silent_p.F27F|ICAM2_ENST00000449662.2_Silent_p.F27F|ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000579788.1_Silent_p.F27F|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2			6					CGTGTACCTCGAATACCTTCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000412356.1	1	1	hg19	CCDS11657.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1	1	0	1	38	186	0	55	1	1	104	230	0	55	2		0	0	0	0	0	2	1	1	37	178	0	55	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ERN1	2081	broad.mit.edu	37	17	62125340	62125340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62125340C>T	ENST00000433197.3	-	19	2502	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1			9					CGTGCAATGACGTCTTCTATA	0.438000																								0							SO:0001583	missense			ENST00000433197.3	1	1	hg19	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623276	0.28889	.	.	ENSG00000178607	ENST00000433197	T	0.64803	-0.12	5.23	2.68	0.31781	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148489	0.49916	N	0.000123	T	0.40979	0.1139	N	0.21194	0.64	0.39713	D	0.971359	B	0.06786	0.001	B	0.11329	0.006	T	0.13388	-1.0511	10	0.15952	T	0.53	-25.2307	6.8144	0.23822	0.0:0.5913:0.0:0.4087	.	803	O75460	ERN1_HUMAN	I	803	ENSP00000401445:V803I	ENSP00000401445:V803I	V	-	1	0	ERN1	59479072	1.000000	0.71417	0.956000	0.39512	0.802000	0.45316	0.870000	0.28010	0.657000	0.30906	0.491000	0.48974	GTC		TCGA-IB-7651-01A-11D-2154-08	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	1	0	1	26	110	0	23	1	9.808248e-01	2	28	0	23	2		0	0	0	0	0	2	1	1	26	109	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
ERN1	2081	broad.mit.edu	37	17	62130142	62130142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62130142G>A	ENST00000433197.3	-	17	2346	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1			9					TTACTCACAGGGTTCTCCTTA	0.542000																								0							SO:0001583	missense			ENST00000433197.3	1	1	hg19	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371479	0.61624	.	.	ENSG00000178607	ENST00000433197	T	0.48836	0.8	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	N	0.19112	0.55	0.80722	D	1	B	0.21071	0.051	B	0.29716	0.106	T	0.14504	-1.0470	10	0.21540	T	0.41	-16.6814	19.3787	0.94523	0.0:0.0:1.0:0.0	.	751	O75460	ERN1_HUMAN	S	751	ENSP00000401445:P751S	ENSP00000401445:P751S	P	-	1	0	ERN1	59483874	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	9.286000	0.95898	2.588000	0.87417	0.205000	0.17691	CCT		TCGA-IB-7651-01A-11D-2154-08	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	1	0	1	30	148	0	39	0	9.851828e-01	1	35	0	39	2		0	0	0	0	0	2	1	1	30	145	0	39	2								-3.298109	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
ERN1	2081	broad.mit.edu	37	17	62135346	62135346	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62135346T>C	ENST00000433197.3	-	12	1309	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1			9					GTCAACCAGGTTGATAACCTT	0.552000																								0							SO:0001583	missense			ENST00000433197.3	0	1	hg19	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	T	4.678	0.126002	0.08931	.	.	ENSG00000178607	ENST00000433197	T	0.58652	0.32	5.37	4.29	0.51040	.	0.969624	0.08586	N	0.923812	T	0.41166	0.1147	L	0.27053	0.805	0.27736	N	0.944656	B	0.02656	0.0	B	0.01281	0.0	T	0.32025	-0.9922	10	0.07644	T	0.81	-17.115	8.4424	0.32822	0.0:0.1505:0.0:0.8495	.	405	O75460	ERN1_HUMAN	S	405	ENSP00000401445:N405S	ENSP00000401445:N405S	N	-	2	0	ERN1	59489078	0.991000	0.36638	0.995000	0.50966	0.615000	0.37417	0.906000	0.28517	0.878000	0.35920	-0.379000	0.06801	AAC		TCGA-IB-7651-01A-11D-2154-08	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	1	0	1	14	33	0	11	1	9.954387e-01	2	24	0	11	2		0	0	0	0	0	2	1	9.998109e-01	12	31	0	11	2								-20.000000	1	1	120210	1	22	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
TEX2	55852	broad.mit.edu	37	17	62265718	62265718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62265718C>T	ENST00000583097.1	-	5	2406	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	TEX2_ENST00000258991.3_Missense_Mutation_p.R752H|TEX2_ENST00000584379.1_Missense_Mutation_p.R745H			Q8IWB9	TEX2_HUMAN	testis expressed 2			41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)		GCTGCTGCTGCGGCTGTGGGT	0.577000																								0							SO:0001583	missense			ENST00000583097.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.98	3.521129	0.64747	.	.	ENSG00000136478	ENST00000258991	T	0.48836	0.8	5.88	5.88	0.94601	.	0.100985	0.64402	D	0.000002	T	0.52158	0.1717	M	0.76574	2.34	0.80722	D	1	P;P	0.44578	0.838;0.75	B;B	0.37387	0.248;0.126	T	0.61103	-0.7130	10	0.72032	D	0.01	-13.9632	20.2405	0.98372	0.0:1.0:0.0:0.0	.	752;745	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	H	752	ENSP00000258991:R752H	ENSP00000258991:R752H	R	-	2	0	TEX2	59619450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.779000	0.68948	2.797000	0.96272	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	1	0	1	75	336	0	68	1	9.999999e-01	25	85	0	68	2		0	0	0	0	0	2	1	1	75	327	0	65	2								-3.318060	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX2	55852	broad.mit.edu	37	17	62290017	62290017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290017C>T	ENST00000583097.1	-	2	1733	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	TEX2_ENST00000258991.3_Missense_Mutation_p.A521T|TEX2_ENST00000584379.1_Missense_Mutation_p.A521T			Q8IWB9	TEX2_HUMAN	testis expressed 2			41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)		TATTTATGAGCACTTGGTGGT	0.458000																								0							SO:0001583	missense			ENST00000583097.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.88	1.476242	0.26511	.	.	ENSG00000136478	ENST00000258991	T	0.42513	0.97	6.17	6.17	0.99709	.	0.176192	0.50627	D	0.000104	T	0.33933	0.0880	L	0.56769	1.78	0.32707	N	0.512139	B;B	0.19331	0.035;0.02	B;B	0.19666	0.026;0.007	T	0.38478	-0.9659	10	0.02654	T	1	-15.5616	9.9759	0.41783	0.0:0.7834:0.1404:0.0761	.	521;521	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	T	521	ENSP00000258991:A521T	ENSP00000258991:A521T	A	-	1	0	TEX2	59643749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.407000	0.34657	2.941000	0.99782	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	1	0	1	160	616	0	144	1	9.999834e-01	8	54	0	144	2		0	0	0	0	0	2	1	1	157	602	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX2	55852	broad.mit.edu	37	17	62290429	62290429	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290429T>G	ENST00000583097.1	-	2	1321	c.1149A>C	c.(1147-1149)aaA>aaC	p.K383N	TEX2_ENST00000258991.3_Missense_Mutation_p.K383N|TEX2_ENST00000584379.1_Missense_Mutation_p.K383N			Q8IWB9	TEX2_HUMAN	testis expressed 2			41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)		CCTGGGAACTTTTCAGTTCTA	0.478000																								0							SO:0001583	missense			ENST00000583097.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	1.019	-0.685572	0.03328	.	.	ENSG00000136478	ENST00000258991	T	0.47528	0.84	6.17	-6.78	0.01721	.	0.567277	0.19790	N	0.106011	T	0.29556	0.0737	N	0.22421	0.69	0.09310	N	1	B;B	0.28605	0.217;0.138	B;B	0.26094	0.066;0.03	T	0.01945	-1.1242	10	0.42905	T	0.14	-7.3674	17.5523	0.87880	0.0:0.6324:0.0:0.3676	.	383;383	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	N	383	ENSP00000258991:K383N	ENSP00000258991:K383N	K	-	3	2	TEX2	59644161	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.499000	0.06413	-1.204000	0.02648	-0.274000	0.10170	AAA		TCGA-IB-7651-01A-11D-2154-08	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	1	0	1	87	426	0	79	1	9.999520e-01	12	60	0	79	2		0	0	0	0	0	2	1	1	86	418	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX2	55852	broad.mit.edu	37	17	62291232	62291232	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62291232G>A	ENST00000583097.1	-	2	518	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	TEX2_ENST00000258991.3_Silent_p.L116L|TEX2_ENST00000584379.1_Silent_p.L116L			Q8IWB9	TEX2_HUMAN	testis expressed 2			41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)		GACTCCAACAGCTTTACAGTG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000583097.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	0	0	0	24	798	0	131	0	5.209762e-01	1	57	0	131	2		0	0	0	0	0	2	1	9.999996e-01	24	783	0	130	2								-3.617523	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.350000	0.220000	1.000000	0.340000	0.415289	0.350000	0	2.800000e-01	4.600000e-01
DDX5	1655	broad.mit.edu	37	17	62496398	62496398	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62496398T>G	ENST00000225792.5	-	13	1889	c.1488A>C	c.(1486-1488)agA>agC	p.R496S	DDX5_ENST00000578804.1_Missense_Mutation_p.R496S|DDX5_ENST00000450599.2_Missense_Mutation_p.R417S|MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5			19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		CCGCAGAGTATCTGTCCCGAC	0.423000			T	ETV4	prostate								NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0							SO:0001583	missense			ENST00000225792.5	1	1	hg19	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478558	0.12521	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	.	0.097898	0.64402	D	0.000001	T	0.47655	0.1457	L	0.47716	1.5	0.80722	D	1	B;B;B	0.32781	0.158;0.384;0.384	B;B;B	0.28305	0.018;0.088;0.088	T	0.47005	-0.9150	9	0.36615	T	0.2	-11.659	10.9731	0.47450	0.1394:0.0:0.0:0.8606	.	417;496;496	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	S	496;426;485	.	ENSP00000225792:R485S	R	-	3	2	DDX5	59926860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.190000	0.69967	0.482000	0.46254	AGA		TCGA-IB-7651-01A-11D-2154-08	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	1	0	1	143	532	0	123	1	1	480	1497	0	123	2		0	0	0	0	0	2	1	1	142	519	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX5	1655	broad.mit.edu	37	17	62499117	62499117	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62499117C>A	ENST00000225792.5	-	8	1311	c.910G>T	c.(910-912)Gca>Tca	p.A304S	DDX5_ENST00000578804.1_Missense_Mutation_p.A304S|DDX5_ENST00000450599.2_Missense_Mutation_p.A225S|MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5			19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		AGTTCAAGTGCACCAATGTTT	0.373000			T	ETV4	prostate								NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0							SO:0001583	missense			ENST00000225792.5	1	1	hg19	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178353	0.57692	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.91	5.91	0.95273	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.01874	-0.695	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.002;0.002;0.002	T	0.41592	-0.9500	9	0.02654	T	1	-10.9695	20.2985	0.98592	0.0:1.0:0.0:0.0	.	225;304;293;304	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	S	304;234;293	.	ENSP00000225792:A293S	A	-	1	0	DDX5	59929579	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.300000	0.78841	2.793000	0.96121	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	1	0	1	121	490	0	125	1	1	267	765	0	125	2		0	0	0	0	0	2	1	1	116	482	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC37A3	374819	broad.mit.edu	37	17	62856945	62856945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62856945G>A	ENST00000584306.1	-	11	3849	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*|LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3			40					GTGTCTAGCTGCTCACTCCCA	0.463000																								0							SO:0001587	stop_gained			ENST00000584306.1	0	1	hg19	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	40	8.010885	0.98607	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	.	.	.	2.46	0.0936	0.14477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.8545	0.05568	0.1715:0.0:0.544:0.2844	.	.	.	.	X	188;145;84;1107	.	ENSP00000325713:Q1107X	Q	-	1	0	LRRC37A3	60287407	0.008000	0.16893	0.003000	0.11579	0.190000	0.23558	0.579000	0.23788	-0.078000	0.12730	0.298000	0.19748	CAG		TCGA-IB-7651-01A-11D-2154-08	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	1	0	0	238	1268	0	408	0	1.808577e-01	0	5	0	408	2		0	0	0	0	0	2	1	1	226	1223	0	416	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNA13	10672	broad.mit.edu	37	17	63010504	63010504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63010504C>T	ENST00000439174.2	-	4	1250	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	GNA13_ENST00000541118.1_Silent_p.R240R	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13			34					GTTGCTGGTCCCGGCGTTTGT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000439174.2	1	1	hg19	CCDS11661.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	0	0	1	44	342	1	69	1	9.984403e-01	26	228	1	69	13		0	0	0	0	0	2	1	9.996862e-01	44	339	1	67	19								-2.966613	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998896	0.990000	1	9.900000e-01	1
RGS9	8787	broad.mit.edu	37	17	63204111	63204111	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63204111A>C	ENST00000262406.9	+	16	1342	c.1275A>C	c.(1273-1275)gaA>gaC	p.E425D	RGS9_ENST00000443584.3_Missense_Mutation_p.E422D|RGS9_ENST00000449996.3_Missense_Mutation_p.E422D	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9			41					AACCTCAGGAAACCACCAAGA	0.413000																								0							SO:0001583	missense			ENST00000262406.9	1	1	hg19	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464595	0.26335	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34275	1.38;1.37	5.34	-1.13	0.09775	.	0.337709	0.34507	N	0.003904	T	0.31702	0.0805	L	0.55481	1.735	0.27741	N	0.944487	B;B;B	0.31548	0.258;0.22;0.328	B;B;B	0.33196	0.159;0.1;0.132	T	0.33369	-0.9871	10	0.52906	T	0.07	.	12.3179	0.54969	0.4618:0.0:0.5382:0.0	.	425;425;422	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	D	425;422	ENSP00000262406:E425D;ENSP00000396329:E422D	ENSP00000262406:E425D	E	+	3	2	RGS9	60634573	0.993000	0.37304	0.987000	0.45799	0.738000	0.42128	1.044000	0.30329	-0.097000	0.12307	-0.250000	0.11733	GAA		TCGA-IB-7651-01A-11D-2154-08	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	1	0	1	54	228	0	53	0	4.760894e-01	0	8	0	53	2		0	0	0	0	0	2	1	1	52	222	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AIPL1	23746	broad.mit.edu	37	17	6337274	6337274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6337274C>T	ENST00000381129.3	-	2	321	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M|AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M|AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1			12					ACCTCGTGCACCCGCATGGAG	0.592000																								0							SO:0001583	missense			ENST00000381129.3	1	1	hg19	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735304	0.30774	.	.	ENSG00000129221	ENST00000381129;ENST00000250087;ENST00000444243	D;D	0.87887	-2.31;-2.31	5.05	-10.1	0.00402	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.341267	0.28821	N	0.014031	D	0.82697	0.5093	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.50369	0.934;0.823;0.627;0.933;0.91	P;P;B;P;P	0.53593	0.73;0.458;0.255;0.668;0.583	T	0.74910	-0.3503	10	0.46703	T	0.11	-8.5843	5.4559	0.16590	0.0902:0.1015:0.5139:0.2944	.	81;59;81;81;81	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9	.;.;.;.;AIPL1_HUMAN	M	81	ENSP00000370521:V81M;ENSP00000250087:V81M	ENSP00000250087:V81M	V	-	1	0	AIPL1	6277998	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.414000	0.07114	-1.781000	0.01277	-0.219000	0.12488	GTG		TCGA-IB-7651-01A-11D-2154-08	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	1	0	1	21	134	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999979e-01	20	130	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.998817	0.990000	1	9.900000e-01	1
FAM64A	54478	broad.mit.edu	37	17	6348719	6348719	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6348719T>C	ENST00000250056.8	+	2	372	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	FAM64A_ENST00000572447.1_Missense_Mutation_p.S97P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000572595.2_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A			7					GGGTGCCGTGTCCCAGGTAAT	0.547000																								0							SO:0001583	missense			ENST00000250056.8	1	1	hg19	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552859	0.45487	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56611	0.45	4.75	3.6	0.41247	.	0.080661	0.51477	D	0.000096	T	0.67468	0.2896	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75484	0.986;0.943	T	0.70107	-0.4963	10	0.87932	D	0	-22.6153	8.0664	0.30663	0.0:0.0:0.2059:0.7941	.	97;97	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	P	97	ENSP00000250056:S97P	ENSP00000250056:S97P	S	+	1	0	FAM64A	6289443	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	2.234000	0.43035	2.143000	0.66587	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	0	0	1	65	286	0	55	1	8.231968e-01	3	13	0	55	2		0	0	0	0	0	2	1	1	65	280	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AXIN2	8313	broad.mit.edu	37	17	63533929	63533929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63533929G>T	ENST00000375702.5	-	5	1333	c.1225C>A	c.(1225-1227)Ctc>Atc	p.L409I	AXIN2_ENST00000307078.5_Missense_Mutation_p.L409I			Q9Y2T1	AXIN2_HUMAN	axin 2			34					TTGAGTGTGAGCTCGGAGCCC	0.617000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome															0							SO:0001583	missense	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	ENST00000375702.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	0.028	-1.354380	0.01256	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.83914	-1.78;-1.78	5.2	3.0	0.34707	.	1.043520	0.07559	N	0.916760	T	0.62368	0.2422	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.52139	-0.8615	10	0.14656	T	0.56	-0.7102	2.2886	0.04133	0.2055:0.1489:0.4932:0.1523	.	409;409	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	I	409	ENSP00000302625:L409I;ENSP00000364854:L409I	ENSP00000302625:L409I	L	-	1	0	AXIN2	60964391	0.946000	0.32159	0.453000	0.27007	0.032000	0.12392	1.091000	0.30915	1.201000	0.43203	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	1	0	0	11	50	0	8	1	9.977291e-01	7	47	0	8	2		0	0	0	0	0	2	1	9.987443e-01	11	49	0	8	2								-19.955490	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998493	0.990000	1	9.900000e-01	1
PITPNM3	83394	broad.mit.edu	37	17	6364709	6364709	+	Missense_Mutation	SNP	C	C	T	rs148826628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6364709C>T	ENST00000262483.8	-	18	2561	c.2474G>A	c.(2473-2475)cGc>cAc	p.R825H	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R789H	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3			36					CATGAGGTTGCGCAGGAAGAT	0.642000																								0							SO:0001583	missense			ENST00000262483.8	1	1	hg19	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802640	0.70682	0.0	1.16E-4	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.76709	-1.04;-1.04	4.61	4.61	0.57282	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	L	0.50333	1.59	0.46356	D	0.999002	B;D	0.71674	0.33;0.998	B;D	0.63033	0.143;0.91	D	0.85338	0.1094	10	0.72032	D	0.01	.	15.3014	0.73955	0.0:1.0:0.0:0.0	.	789;825	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	825;789	ENSP00000262483:R825H;ENSP00000407882:R789H	ENSP00000262483:R825H	R	-	2	0	PITPNM3	6305433	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	1.527000	0.35975	2.293000	0.77203	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	1	0	0	98	379	1	92	1	7.400464e-01	6	6	1	92	2		0	0	0	0	0	2	1	1	96	376	1	92	18								-20.000000	1	1	121412	2	37	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPH3AL	9501	broad.mit.edu	37	17	63652	63652	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63652G>A	ENST00000331302.7	-	10	1246	c.939C>T	c.(937-939)tgC>tgT	p.C313C	RPH3AL_ENST00000536489.2_Silent_p.C284C|RPH3AL_ENST00000323434.8_Silent_p.C284C|RPH3AL_ENST00000576001.1_5'Flank	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)			6					CTCAGCCCAGGCAGCTGGAGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000331302.7	1	1	hg19	CCDS10994.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	1	0	1	26	158	0	30	1	6.859755e-01	2	14	0	30	2		0	0	0	0	0	2	1	9.999999e-01	25	155	0	30	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
PITPNM3	83394	broad.mit.edu	37	17	6376098	6376098	+	Silent	SNP	G	G	A	rs148138690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6376098G>A	ENST00000262483.8	-	11	1395	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.C400C	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3			36					AGGGGTCTGCGCAATGGAAGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000262483.8	1	1	hg19	CCDS11076.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	1	0	1	49	188	0	57	1	8.448210e-01	6	9	0	57	2		0	0	0	0	0	2	1	1	47	181	0	53	2								-20.000000	1	1	121400	2	37	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITPNM3	83394	broad.mit.edu	37	17	6387061	6387061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6387061C>T	ENST00000262483.8	-	6	450	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PITPNM3_ENST00000421306.3_Silent_p.P85P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3			36					AGGAGCGCTGCGGGCAGCCTT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000262483.8	1	1	hg19	CCDS11076.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	1	0	1	75	287	0	68	1	9.476802e-01	9	12	0	68	2		0	0	0	0	0	2	1	1	75	284	0	68	2								-20.000000	1	1	121412	5	38	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOH	350	broad.mit.edu	37	17	64216739	64216739	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64216739C>T	ENST00000205948.6	-	5	574	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	p.A179A(1)		17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		TTCCAAACATCGCATGTTGTG	0.418000													Melanoma(155;624 1882 16869 48804 51309)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000205948.6	1	1	hg19	CCDS11663.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	1	0	1	70	332	0	87	1	7.288149e-01	2	12	0	87	2		0	0	0	0	0	2	1	1	70	325	0	85	2								-3.064870	1	1	121412	2	34	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOH	350	broad.mit.edu	37	17	64222213	64222213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64222213C>T	ENST00000205948.6	-	3	308	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)			17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		GCTCCATTTTCTAAGATTCCA	0.343000													Melanoma(155;624 1882 16869 48804 51309)											0							SO:0001583	missense			ENST00000205948.6	1	1	hg19	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307477	0.40795	.	.	ENSG00000091583	ENST00000205948	T	0.63255	-0.03	5.55	3.51	0.40186	Complement control module (2);Sushi/SCR/CCP (3);	0.557452	0.20002	N	0.101316	T	0.50309	0.1608	M	0.64997	1.995	0.31164	N	0.704006	B	0.32338	0.365	B	0.30105	0.111	T	0.49588	-0.8924	10	0.06625	T	0.88	.	7.9847	0.30205	0.0:0.7538:0.16:0.0863	.	91	P02749	APOH_HUMAN	K	91	ENSP00000205948:E91K	ENSP00000205948:E91K	E	-	1	0	APOH	61652675	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.609000	0.24238	0.675000	0.31264	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	1	0	1	42	206	0	43	0	7.139360e-01	1	13	0	43	2		0	0	0	0	0	2	1	1	40	200	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM57A	79850	broad.mit.edu	37	17	644642	644642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:644642C>T	ENST00000308278.8	+	5	842	c.606C>T	c.(604-606)tcC>tcT	p.S202S	FAM57A_ENST00000301324.8_Silent_p.S170S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A			10					TGTACTGGTCCTATGGCCGCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000308278.8	1	1	hg19	CCDS10996.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	1	0	1	78	290	0	86	1	1	87	140	0	86	2		0	0	0	0	0	2	1	1	75	282	1	85	15								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GEMIN4	50628	broad.mit.edu	37	17	648153	648153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:648153G>A	ENST00000319004.5	-	2	3248	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S	GEMIN4_ENST00000576778.1_Missense_Mutation_p.P1033S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4			22		Myeloproliferative disorder(207;0.204)			CGTTCTTCAGGGCCGATGCCC	0.577000																								0							SO:0001583	missense			ENST00000319004.5	1	1	hg19	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	7.474	0.647231	0.14516	.	.	ENSG00000179409	ENST00000319004	T	0.05382	3.45	5.71	5.71	0.89125	.	0.384630	0.28476	N	0.015215	T	0.13286	0.0322	L	0.60455	1.87	0.80722	D	1	D	0.56287	0.975	P	0.51516	0.672	T	0.07271	-1.0781	10	0.20519	T	0.43	-13.8527	14.6388	0.68708	0.0:0.2571:0.7429:0.0	.	1044	P57678	GEMI4_HUMAN	S	1044	ENSP00000321706:P1044S	ENSP00000321706:P1044S	P	-	1	0	GEMIN4	594903	0.893000	0.30496	0.996000	0.52242	0.073000	0.16967	1.509000	0.35780	2.709000	0.92574	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	1	0	1	11	130	0	26	1	9.974271e-01	21	107	0	26	2		0	0	0	0	0	2	1	9.984277e-01	11	129	0	26	2								-16.111110	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.970000	0.510000	1.000000	1.000000	0.888872	0.970000	1	7.100000e-01	1
CACNG5	27091	broad.mit.edu	37	17	64881352	64881352	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881352T>C	ENST00000533854.1	+	6	1060	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5			24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		CTCTTCACCCTGCTGAGCCTC	0.632000																								0							SO:0001583	missense			ENST00000533854.1	1	1	hg19	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729119	0.69074	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.55413	0.52;0.52	3.27	3.27	0.37495	.	.	.	.	.	T	0.35682	0.0940	N	0.19112	0.55	0.80722	D	1	P	0.47350	0.894	B	0.38562	0.276	T	0.41963	-0.9479	9	0.87932	D	0	.	11.8613	0.52467	0.0:0.0:0.0:1.0	.	275	Q9UF02	CCG5_HUMAN	R	275	ENSP00000436836:C275R;ENSP00000303092:C275R	ENSP00000303092:C275R	C	+	1	0	CACNG5	62311814	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	7.114000	0.77103	1.744000	0.51775	0.491000	0.48974	TGC		TCGA-IB-7651-01A-11D-2154-08	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	1	0	1	66	328	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	1	65	323	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GEMIN4	50628	broad.mit.edu	37	17	650235	650235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650235C>T	ENST00000319004.5	-	2	1166	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000576778.1_Missense_Mutation_p.D339N	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4			22		Myeloproliferative disorder(207;0.204)			GTCAGACTGTCGCACAGCCGG	0.637000																								0							SO:0001583	missense			ENST00000319004.5	1	1	hg19	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.769060	0.31320	4.71E-4	0.0	ENSG00000179409	ENST00000319004	T	0.17854	2.25	5.95	4.99	0.66335	.	0.163861	0.53938	D	0.000060	T	0.19127	0.0459	M	0.64997	1.995	0.80722	D	1	B	0.20261	0.043	B	0.19391	0.025	T	0.02758	-1.1114	10	0.45353	T	0.12	-22.2074	9.6685	0.39998	0.0:0.7851:0.1413:0.0736	.	350	P57678	GEMI4_HUMAN	N	350	ENSP00000321706:D350N	ENSP00000321706:D350N	D	-	1	0	GEMIN4	596985	0.973000	0.33851	1.000000	0.80357	0.353000	0.29299	2.408000	0.44574	1.527000	0.49086	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	1	0	1	96	427	0	107	1	9.999674e-01	15	53	0	107	2		0	0	0	0	0	2	1	1	94	419	0	106	2								-3.309576	1	1	121088	7	41	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNG4	27092	broad.mit.edu	37	17	65026808	65026808	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	p.A224A(1)		19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		TCCTTAAGGCGTCTTCCTCTT	0.542000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000262138.3	1	1	hg19	CCDS11667.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	1	0	1	104	567	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	104	561	0	91	2								-20.000000	1	1	121412	4	39	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNG1	786	broad.mit.edu	37	17	65051341	65051341	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65051341T>G	ENST00000226021.3	+	3	498	c.427T>G	c.(427-429)Ttc>Gtc	p.F143V		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1			8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)			Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGCGTCCATGTTCTATGCCTT	0.637000																								0							SO:0001583	missense			ENST00000226021.3	1	1	hg19	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727081	0.48833	.	.	ENSG00000108878	ENST00000226021	T	0.67171	-0.25	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.83852	2.665	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.82566	-0.0393	10	0.38643	T	0.18	.	14.9508	0.71071	0.0:0.0:0.0:1.0	.	143	Q06432	CCG1_HUMAN	V	143	ENSP00000226021:F143V	ENSP00000226021:F143V	F	+	1	0	CACNG1	62481803	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.988000	0.88194	1.944000	0.56390	0.379000	0.24179	TTC		TCGA-IB-7651-01A-11D-2154-08	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1	1	0	0	16	263	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	9.999266e-01	16	256	0	41	2								-5.427641	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.700000	0.410000	1.000000	1.000000	0.728650	0.700000	0	5.400000e-01	9.500000e-01
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650531G>A	ENST00000319004.5	-	2	870	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4			22		Myeloproliferative disorder(207;0.204)			CTCTGTCAGCGCAAACACAGT	0.607000																								0							SO:0001583	missense			ENST00000319004.5	1	1	hg19	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	1	0	1	118	511	0	135	1	9.999934e-01	20	55	0	135	2		0	0	0	0	0	2	1	1	116	498	0	134	2								-3.188625	1	0	121286	2	38	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GEMIN4	50628	broad.mit.edu	37	17	650572	650572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650572G>A	ENST00000319004.5	-	2	829	c.711C>T	c.(709-711)tgC>tgT	p.C237C	GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000576778.1_Silent_p.C226C	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4			22		Myeloproliferative disorder(207;0.204)			CCAGCGCACAGCACTTCCTCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000319004.5	0	1	hg19	CCDS45559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	0	0	0	14	534	0	99	1	6.666292e-01	10	77	0	99	2		0	0	0	0	0	2	1	9.997140e-01	14	522	0	99	2								-3.487476	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.320000	0.170000	1.000000	0.300000	0.392392	0.320000	0	2.400000e-01	4.600000e-01
HELZ	9931	broad.mit.edu	37	17	65083046	65083046	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65083046A>C	ENST00000358691.5	-	32	5559	c.5393T>G	c.(5392-5394)tTt>tGt	p.F1798C	HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger			69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)				CGGGGATGAAAAGTTGAAAGA	0.473000																								0							SO:0001583	missense			ENST00000358691.5	1	1	hg19	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059441	0.36373	.	.	ENSG00000198265	ENST00000358691	D	0.84800	-1.9	5.7	4.59	0.56863	.	0.053448	0.85682	D	0.000000	T	0.75213	0.3819	N	0.14661	0.345	0.39299	D	0.964868	D;D	0.57257	0.979;0.979	P;P	0.46362	0.514;0.514	T	0.79391	-0.1823	10	0.87932	D	0	-17.7225	8.4921	0.33106	0.608:0.0:0.0:0.392	.	1799;1798	B7ZLW2;P42694	.;HELZ_HUMAN	C	1798	ENSP00000351524:F1798C	ENSP00000351524:F1798C	F	-	2	0	HELZ	62513508	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	4.895000	0.63214	2.166000	0.68216	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	1	0	1	102	463	0	101	1	9.994493e-01	11	41	0	101	2		0	0	0	0	0	2	1	1	99	459	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HELZ	9931	broad.mit.edu	37	17	65144688	65144688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65144688A>G	ENST00000358691.5	-	20	2784	c.2618T>C	c.(2617-2619)aTc>aCc	p.I873T	HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger			69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)				CACCTACTTGATGATAGCTTC	0.483000																								0							SO:0001583	missense			ENST00000358691.5	1	1	hg19	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671671	0.47781	.	.	ENSG00000198265	ENST00000358691	D	0.82984	-1.67	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.978;0.986	D	0.92074	0.5667	10	0.87932	D	0	.	16.1449	0.81559	1.0:0.0:0.0:0.0	.	874;873	B7ZLW2;P42694	.;HELZ_HUMAN	T	873	ENSP00000351524:I873T	ENSP00000351524:I873T	I	-	2	0	HELZ	62575150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.426000	0.90273	2.269000	0.75478	0.455000	0.32223	ATC		TCGA-IB-7651-01A-11D-2154-08	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	1	0	0	75	849	0	211	0	2.897551e-01	0	13	0	211	2		0	0	0	0	0	2	1	1	73	836	0	209	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.970000	0.760000	1.000000	1.000000	0.945546	0.970000	1	8.600000e-01	1
HELZ	9931	broad.mit.edu	37	17	65162603	65162603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65162603C>T	ENST00000358691.5	-	15	2052	c.1886G>A	c.(1885-1887)aGt>aAt	p.S629N	HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger			69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)				CCTGTTAGGACTCCATGGTAT	0.358000																								0							SO:0001583	missense			ENST00000358691.5	1	1	hg19	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637614	0.47049	.	.	ENSG00000198265	ENST00000358691	D	0.84223	-1.82	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	N	0.17082	0.46	0.80722	D	1	B;B	0.31837	0.342;0.288	B;B	0.28709	0.093;0.076	T	0.74112	-0.3770	10	0.36615	T	0.2	-16.2585	19.6559	0.95842	0.0:1.0:0.0:0.0	.	629;629	B7ZLW2;P42694	.;HELZ_HUMAN	N	629	ENSP00000351524:S629N	ENSP00000351524:S629N	S	-	2	0	HELZ	62593065	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.358000	0.79466	2.657000	0.90304	0.491000	0.48974	AGT		TCGA-IB-7651-01A-11D-2154-08	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	1	0	1	73	328	0	69	1	9.757806e-01	6	23	0	69	2		0	0	0	0	0	2	1	1	73	323	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD12	5718	broad.mit.edu	37	17	65337095	65337095	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65337095A>G	ENST00000356126.3	-	11	1342	c.1235T>C	c.(1234-1236)aTt>aCt	p.I412T	PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12			13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)				GAAGTTGATAATTCCTGCTAA	0.368000																								0							SO:0001583	missense			ENST00000356126.3	1	1	hg19	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965439	0.74131	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.30981	1.51;1.51	4.81	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.099183	0.64402	D	0.000002	T	0.52435	0.1734	M	0.71036	2.16	0.80722	D	1	D;B	0.57257	0.979;0.43	D;P	0.64877	0.93;0.697	T	0.56074	-0.8039	10	0.56958	D	0.05	-7.9757	14.3834	0.66926	1.0:0.0:0.0:0.0	.	392;412	A6NP15;O00232	.;PSD12_HUMAN	T	412;392	ENSP00000348442:I412T;ENSP00000349667:I392T	ENSP00000348442:I412T	I	-	2	0	PSMD12	62767557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.894000	0.92506	1.808000	0.52836	0.397000	0.26171	ATT		TCGA-IB-7651-01A-11D-2154-08	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	1	0	1	67	321	0	69	1	1	72	167	0	69	2		0	0	0	0	0	2	1	1	65	315	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD12	5718	broad.mit.edu	37	17	65353435	65353435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65353435C>T	ENST00000356126.3	-	3	388	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12			13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)				TAACTGACTCCGCCTTTTGGA	0.358000																								0							SO:0001583	missense			ENST00000356126.3	1	1	hg19	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233416	0.95207	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.43688	3.35;0.94	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.73678	-0.3907	10	0.54805	T	0.06	-13.7726	18.9241	0.92537	0.0:1.0:0.0:0.0	.	74;94	A6NP15;O00232	.;PSD12_HUMAN	Q	94;74	ENSP00000348442:R94Q;ENSP00000349667:R74Q	ENSP00000348442:R94Q	R	-	2	0	PSMD12	62783897	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.356000	0.79445	2.477000	0.83638	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	1	0	0	7	140	0	46	1	9.814276e-01	7	140	0	46	2		0	0	0	0	0	2	1	9.799883e-01	6	138	0	45	2								-3.035180	1	1	121410	3	33	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.610000	0.270000	1.000000	1.000000	0.645989	0.610000	0	4.100000e-01	9.400000e-01
TXNDC17	84817	broad.mit.edu	37	17	6544417	6544417	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6544417G>T	ENST00000250101.5	+	1	340	c.15G>T	c.(13-15)gaG>gaT	p.E5D	KIAA0753_ENST00000361413.3_5'Flank|TXNDC17_ENST00000570330.1_Missense_Mutation_p.E5D|TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D|KIAA0753_ENST00000572370.1_5'Flank	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17			3					CCCGCTATGAGGAGGTGAGCG	0.652000																								0							SO:0001583	missense			ENST00000250101.5	1	1	hg19	CCDS11077.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712972	0.30413	.	.	ENSG00000129235	ENST00000250101	.	.	.	5.17	0.693	0.18056	Thioredoxin-like fold (2);	0.104888	0.64402	D	0.000005	T	0.55226	0.1907	M	0.77616	2.38	0.41089	D	0.985587	B	0.13594	0.008	B	0.08055	0.003	T	0.48317	-0.9046	9	0.51188	T	0.08	-1.5413	4.211	0.10512	0.3585:0.0:0.4922:0.1493	.	5	Q9BRA2	TXD17_HUMAN	D	5	.	ENSP00000250101:E5D	E	+	3	2	TXNDC17	6485141	1.000000	0.71417	0.309000	0.25155	0.114000	0.19823	0.547000	0.23299	-0.009000	0.14296	-0.251000	0.11542	GAG		TCGA-IB-7651-01A-11D-2154-08	TXNDC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219854.2	1	0	1	32	141	0	25	1	1	162	267	0	25	2		0	0	0	0	0	2	1	1	32	137	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MED31	51003	broad.mit.edu	37	17	6547942	6547942	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6547942A>G	ENST00000225728.3	-	4	346	c.241T>C	c.(241-243)Tat>Cat	p.Y81H	MED31_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y7H	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31			3					AAGTGTTCATATTGGAGCAGC	0.408000																								0							SO:0001583	missense			ENST00000225728.3	1	1	hg19	CCDS11078.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789208	0.31685	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.69	5.69	0.88448	.	0.109888	0.64402	D	0.000004	T	0.44286	0.1286	N	0.21617	0.685	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.29822	-0.9999	9	0.29301	T	0.29	-9.6399	14.2142	0.65783	1.0:0.0:0.0:0.0	.	81	Q9Y3C7	MED31_HUMAN	H	81	.	ENSP00000225728:Y81H	Y	-	1	0	MED31	6488666	1.000000	0.71417	0.105000	0.21289	0.322000	0.28314	6.675000	0.74493	2.304000	0.77564	0.528000	0.53228	TAT		TCGA-IB-7651-01A-11D-2154-08	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	1	0	1	94	350	0	69	1	1	45	76	0	69	2		0	0	0	0	0	2	1	1	92	343	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PITPNC1	26207	broad.mit.edu	37	17	65671660	65671660	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65671660T>C	ENST00000581322.1	+	8	682		c.e8+2		PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000335257.6_Splice_Site|PITPNC1_ENST00000580974.1_Splice_Site			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1			17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		AGTGGTATGGTAAGTCAATTT	0.408000																								0							SO:0001630	splice_region_variant			ENST00000581322.1	1	1	hg19	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874773	0.91664	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0985	0.81148	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PITPNC1	63102122	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.915000	0.87484	2.216000	0.71823	0.443000	0.29094	.		TCGA-IB-7651-01A-11D-2154-08	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	1	0	1	75	351	0	71	0	0	1	0	0	71	2		0	0	0	0	0	2	1	1	73	345	0	71	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOL11	25926	broad.mit.edu	37	17	65714073	65714073	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65714073C>A	ENST00000253247.4	+	1	125	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11			11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		AATGGCAGCGCTGGAGGAAGA	0.592000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000253247.4	1	1	hg19	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080987	0.20309	.	.	ENSG00000130935	ENST00000253247	T	0.59638	0.25	4.91	0.587	0.17439	.	0.000000	0.64402	D	0.000001	T	0.67915	0.2944	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65973	-0.6038	10	0.72032	D	0.01	-9.876	8.0543	0.30596	0.0:0.582:0.0:0.418	.	4	Q9H8H0	NOL11_HUMAN	M	4	ENSP00000253247:L4M	ENSP00000253247:L4M	L	+	1	2	NOL11	63144535	0.885000	0.30320	0.995000	0.50966	0.477000	0.33069	0.410000	0.21098	0.079000	0.16929	-0.254000	0.11334	CTG		TCGA-IB-7651-01A-11D-2154-08	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	1	0	0	11	195	0	50	1	7.838465e-01	3	50	0	50	2		0	0	0	0	0	2	1	9.984711e-01	11	195	0	48	2								-14.180890	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.670000	0.350000	1.000000	1.000000	0.694248	0.670000	0	4.900000e-01	9.500000e-01
BPTF	2186	broad.mit.edu	37	17	65862587	65862587	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862587G>T	ENST00000321892.4	+	3	1505	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y|BPTF_ENST00000306378.6_Missense_Mutation_p.D482Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor			78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		CAGAGAAGAAGATACAGAAAA	0.328000																								0							SO:0001583	missense			ENST00000321892.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.58	2.875642	0.51695	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.64991	-0.11;-0.13;-0.12	5.84	5.84	0.93424	.	.	.	.	.	T	0.66376	0.2783	L	0.49350	1.555	0.80722	D	1	B;P;P	0.47106	0.128;0.756;0.89	B;P;P	0.49683	0.03;0.619;0.6	T	0.68720	-0.5334	9	0.72032	D	0.01	.	14.9343	0.70941	0.0:0.0:0.8571:0.1429	.	482;482;482	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	Y	387;482;482;482;343	ENSP00000307208:D482Y;ENSP00000334351:D482Y;ENSP00000315454:D482Y	ENSP00000307208:D482Y	D	+	1	0	BPTF	63293049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.618000	0.74214	2.760000	0.94817	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	101	508	0	127	0	9.937693e-01	1	40	0	127	2		0	0	0	0	0	2	1	1	100	497	0	127	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BPTF	2186	broad.mit.edu	37	17	65862593	65862593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862593G>A	ENST00000321892.4	+	3	1511	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	BPTF_ENST00000335221.5_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K|BPTF_ENST00000306378.6_Missense_Mutation_p.E484K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor			78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		AGAAGATACAGAAAATGAAAA	0.333000																								0							SO:0001583	missense			ENST00000321892.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.37	3.372993	0.61624	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.65178	-0.1;-0.14;-0.13	5.84	5.84	0.93424	.	.	.	.	.	T	0.74741	0.3756	M	0.65975	2.015	0.58432	D	0.999999	P;D;D	0.56968	0.457;0.972;0.978	B;P;P	0.56343	0.081;0.737;0.796	T	0.76454	-0.2953	9	0.72032	D	0.01	.	18.3357	0.90287	0.0:0.0:1.0:0.0	.	484;484;484	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	K	389;484;484;484;345	ENSP00000307208:E484K;ENSP00000334351:E484K;ENSP00000315454:E484K	ENSP00000307208:E484K	E	+	1	0	BPTF	63293055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.177000	0.89688	2.760000	0.94817	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	104	532	0	131	1	9.962381e-01	2	43	0	131	2		0	0	0	0	0	2	1	1	102	519	0	130	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BPTF	2186	broad.mit.edu	37	17	65905755	65905755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65905755G>A	ENST00000321892.4	+	12	3309	c.3248G>A	c.(3247-3249)aGt>aAt	p.S1083N	BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N|BPTF_ENST00000306378.6_Missense_Mutation_p.S957N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor			78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		TGTTCACGAAGTCCAAAAAAA	0.318000																								0							SO:0001583	missense			ENST00000321892.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.82	2.053760	0.36277	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63255	-0.02;-0.03;-0.02	5.55	5.55	0.83447	.	.	.	.	.	T	0.63651	0.2529	L	0.29908	0.895	0.32590	N	0.527265	P;D	0.56035	0.955;0.974	P;P	0.56216	0.718;0.794	T	0.65635	-0.6120	9	0.31617	T	0.26	-13.4805	14.8729	0.70471	0.0:0.0:1.0:0.0	.	957;1083	Q12830-2;Q12830-4	.;.	N	957;1083;1083	ENSP00000307208:S957N;ENSP00000334351:S1083N;ENSP00000315454:S1083N	ENSP00000307208:S957N	S	+	2	0	BPTF	63336217	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.235000	0.58666	2.885000	0.99019	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	26	116	0	58	1	9.847401e-01	4	29	0	58	2		0	0	0	0	0	2	1	1	26	112	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
BPTF	2186	broad.mit.edu	37	17	65907902	65907902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65907902G>A	ENST00000321892.4	+	13	4341	c.4280G>A	c.(4279-4281)aGc>aAc	p.S1427N	BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N|BPTF_ENST00000306378.6_Missense_Mutation_p.S1301N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor			78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		ATTCAGGATAGCAGTGAAGAA	0.393000																								0							SO:0001583	missense			ENST00000321892.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.229	0.598910	0.13939	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62232	0.05;0.04;0.04	5.34	3.33	0.38152	.	.	.	.	.	T	0.38453	0.1041	N	0.14661	0.345	0.39794	D	0.972479	B;B	0.17268	0.018;0.021	B;B	0.15484	0.011;0.013	T	0.21655	-1.0239	9	0.06757	T	0.87	-8.1721	10.6426	0.45602	0.1843:0.0:0.8157:0.0	.	1301;1427	Q12830-2;Q12830-4	.;.	N	1301;1427;1427	ENSP00000307208:S1301N;ENSP00000334351:S1427N;ENSP00000315454:S1427N	ENSP00000307208:S1301N	S	+	2	0	BPTF	63338364	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.674000	0.46867	2.478000	0.83669	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	50	371	0	109	1	9.278247e-01	3	32	0	109	2		0	0	0	0	0	2	1	1	50	359	0	109	2								-19.267500	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999671	0.990000	1	9.900000e-01	1
BPTF	2186	broad.mit.edu	37	17	65924474	65924474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65924474C>T	ENST00000321892.4	+	18	6194	c.6133C>T	c.(6133-6135)Cga>Tga	p.R2045*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1919*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor			78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		TTTTTAGAAACGACTGGAGCA	0.418000																								0							SO:0001587	stop_gained			ENST00000321892.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	44	10.770991	0.99464	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3055	20.4024	0.99000	0.0:1.0:0.0:0.0	.	.	.	.	X	1919;2045;2045	.	ENSP00000307208:R1919X	R	+	1	2	BPTF	63354936	1.000000	0.71417	0.998000	0.56505	0.147000	0.21601	7.412000	0.80091	2.827000	0.97445	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	32	177	0	44	1	9.995073e-01	3	65	0	44	2		0	0	0	0	0	2	1	1	32	170	0	44	2								-17.054480	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
BPTF	2186	broad.mit.edu	37	17	65971920	65971920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65971920C>T	ENST00000321892.4	+	29	9011	c.8950C>T	c.(8950-8952)Cga>Tga	p.R2984*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*|RN7SL622P_ENST00000585292.1_RNA|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R2858*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor			78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		AGTACAAAGACGATATTATGA	0.363000																								0							SO:0001587	stop_gained			ENST00000321892.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	51	18.463470	0.99905	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	.	.	.	5.64	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8102	15.5413	0.76052	0.147:0.853:0.0:0.0	.	.	.	.	X	2858;2841;2984;189	.	ENSP00000307208:R2858X	R	+	1	2	BPTF	63402382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.983000	0.70540	1.346000	0.45694	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	BPTF-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	47	267	0	63	1	9.999429e-01	8	77	0	63	2		0	0	0	0	0	2	1	1	45	260	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SLC13A5	284111	broad.mit.edu	37	17	6597450	6597450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6597450C>A	ENST00000433363.2	-	8	1355	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5			26					TAAACTTGGGCTTCTGTGAAG	0.537000																								0							SO:0001583	missense			ENST00000433363.2	1	1	hg19	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545704	0.65198	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.05717	3.81;3.4	5.61	4.63	0.57726	.	0.229422	0.49916	D	0.000132	T	0.09992	0.0245	L	0.54965	1.715	0.38078	D	0.93658	P;P;P;P	0.47034	0.592;0.889;0.592;0.592	P;P;P;P	0.49140	0.601;0.543;0.601;0.482	T	0.04607	-1.0939	10	0.28530	T	0.3	.	7.884	0.29640	0.0:0.8298:0.0:0.1702	.	374;331;357;374	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	N	374;374;331	ENSP00000406220:K374N;ENSP00000370464:K331N	ENSP00000293800:K374N	K	-	3	2	SLC13A5	6538174	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.272000	0.33109	2.815000	0.96918	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	1	0	1	19	146	0	48	1	9.443789e-01	17	23	0	48	2		0	0	0	0	0	2	1	9.999928e-01	19	144	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.870000	1.000000	1.000000	0.992562	0.990000	1	9.900000e-01	1
ARSG	22901	broad.mit.edu	37	17	66339816	66339816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66339816G>A	ENST00000448504.2	+	3	1086	c.290G>A	c.(289-291)gGc>gAc	p.G97D	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G			26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		GGCCGGCTTGGCCTTCGCAAT	0.612000																								0							SO:0001583	missense			ENST00000448504.2	1	1	hg19	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746529	0.89663	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.86	4.86	0.63082	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85275	0.1058	9	0.51188	T	0.08	.	17.7751	0.88504	0.0:0.0:1.0:0.0	.	97	Q96EG1	ARSG_HUMAN	D	97	.	ENSP00000413953:G97D	G	+	2	0	ARSG	63851411	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.229000	0.89791	2.514000	0.84764	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	1	0	1	60	263	0	55	0	3.886328e-01	0	7	0	55	2		0	0	0	0	0	2	1	1	60	258	0	52	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WIPI1	55062	broad.mit.edu	37	17	66425048	66425048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66425048G>A	ENST00000262139.5	-	10	994	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V|WIPI1_ENST00000589459.1_5'UTR|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1			18					ACTGGATGACGCAACTAGCAG	0.458000																								0							SO:0001583	missense			ENST00000262139.5	1	1	hg19	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690742	0.48097	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.54279	0.58;2.17	5.33	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.217883	0.48286	D	0.000186	T	0.36880	0.0983	L	0.31157	0.91	0.23180	N	0.998168	B	0.26147	0.143	B	0.27608	0.081	T	0.16928	-1.0386	10	0.12430	T	0.62	-10.6268	11.958	0.52993	0.1781:0.0:0.8219:0.0	.	332	Q5MNZ9	WIPI1_HUMAN	V	332;250	ENSP00000262139:A332V;ENSP00000437345:A250V	ENSP00000262139:A332V	A	-	2	0	WIPI1	63936643	1.000000	0.71417	0.008000	0.14137	0.037000	0.13140	5.917000	0.69989	1.139000	0.42245	0.557000	0.71058	GCG		TCGA-IB-7651-01A-11D-2154-08	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	1	0	1	22	162	0	41	1	9.999999e-01	41	179	0	41	2		0	0	0	0	0	2	1	9.999990e-01	22	158	0	41	2								-3.143792	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.930000	1.000000	1.000000	0.996040	0.990000	1	9.900000e-01	1
PRKAR1A	5573	broad.mit.edu	37	17	66520194	66520194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66520194G>A	ENST00000589228.1	+	5	606	c.478G>A	c.(478-480)Gca>Aca	p.A160T	PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha			31	Breast(10;1.64e-13)				CTCCTTTATCGCAGGAGAGAC	0.418000			T, Mis, N, F, S	RET	papillary thyroid	myxoma, endocrine, papillary thyroid			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				Ovarian(167;637 1670 33025 39608 46699 51856)	yes	Dom, Rec	yes	Carney complex	17	17q23-q24	5573	protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)		E, M	0							SO:0001583	missense	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	ENST00000589228.1	1	1	hg19	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619415	0.66787	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.93604	-3.25;-3.25;-3.25	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.093232	0.64402	D	0.000001	D	0.93442	0.7908	M	0.69823	2.125	0.80722	D	1	P;P	0.36647	0.563;0.563	B;B	0.38296	0.27;0.27	D	0.91781	0.5435	10	0.37606	T	0.19	-26.6197	20.2751	0.98485	0.0:0.0:1.0:0.0	.	160;160	B2R5T5;P10644	.;KAP0_HUMAN	T	160	ENSP00000351410:A160T;ENSP00000376475:A160T;ENSP00000445625:A160T	ENSP00000351410:A160T	A	+	1	0	PRKAR1A	64031789	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1	1	0	1	81	490	0	93	1	1	129	564	0	93	2		0	0	0	0	0	2	1	1	81	483	0	92	2								-3.142779	1	1	121412	1	34	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM20A	54757	broad.mit.edu	37	17	66533665	66533665	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66533665C>A	ENST00000592554.1	-	11	2301	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A			9	Breast(10;1.64e-13)				AACTGTTCCACTGGGCCGTCG	0.572000																								0							SO:0001583	missense			ENST00000592554.1	1	1	hg19	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377848	0.24944	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.51	1.0	0.19881	.	1.436550	0.03551	N	0.225445	T	0.26991	0.0661	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15521	-1.0434	9	0.28530	T	0.3	3.9634	3.8588	0.08986	0.1154:0.524:0.1039:0.2567	.	527;382	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	L	527;131	.	ENSP00000226094:V527L	V	-	1	0	FAM20A	64045260	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-1.052000	0.03503	0.687000	0.31509	0.484000	0.47621	GTG		TCGA-IB-7651-01A-11D-2154-08	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	1	0	1	32	73	0	27	0	9.995568e-01	0	32	0	27	2		0	0	0	0	0	2	1	1	32	70	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM20A	54757	broad.mit.edu	37	17	66535523	66535523	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66535523G>T	ENST00000592554.1	-	10	2038	c.1316C>A	c.(1315-1317)tCc>tAc	p.S439Y	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A			9	Breast(10;1.64e-13)				TTCATCATGGGAGTGTCGTCC	0.517000																								0							SO:0001583	missense			ENST00000592554.1	1	1	hg19	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318924	0.81469	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.78916	2.43	0.80722	D	1	D;D	0.64830	0.994;0.957	D;P	0.66847	0.947;0.844	T	0.70901	-0.4746	9	0.02654	T	1	-42.1522	20.3437	0.98782	0.0:0.0:1.0:0.0	.	439;301	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	Y	439;43	.	ENSP00000226094:S439Y	S	-	2	0	FAM20A	64047118	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.394000	0.73223	2.815000	0.96918	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	1	0	1	41	266	0	78	0	9.623604e-01	0	37	0	78	2		0	0	0	0	0	2	1	1	39	265	0	76	2								-2.921467	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999918	0.990000	1	9.900000e-01	1
FAM20A	54757	broad.mit.edu	37	17	66538300	66538300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66538300T>C	ENST00000592554.1	-	7	1657	c.935A>G	c.(934-936)aAc>aGc	p.N312S	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_5'Flank	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A			9	Breast(10;1.64e-13)				GAAGCACACGTTGCTCGCTGG	0.577000																								0							SO:0001583	missense			ENST00000592554.1	1	1	hg19	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727269	0.89390	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86128	0.1573	9	0.66056	D	0.02	-46.305	16.5885	0.84745	0.0:0.0:0.0:1.0	.	312	Q96MK3	FA20A_HUMAN	S	312	.	ENSP00000226094:N312S	N	-	2	0	FAM20A	64049895	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	AAC		TCGA-IB-7651-01A-11D-2154-08	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	1	0	1	32	162	0	51	0	9.181394e-01	0	24	0	51	2		0	0	0	0	0	2	1	1	30	151	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
FAM20A	54757	broad.mit.edu	37	17	66596565	66596565	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66596565A>G	ENST00000592554.1	-	1	965	c.243T>C	c.(241-243)gcT>gcC	p.A81A		NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A			9	Breast(10;1.64e-13)				GGCTGCCGCCAGCCGGTTCAG	0.711000																								0							SO:0001819	synonymous_variant			ENST00000592554.1	0	1	hg19	CCDS11679.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	1	0	0	15	116	0	8	0	2.965558e-01	0	9	0	8	2		0	0	0	0	0	2	1	9.998929e-01	15	114	0	5	2								-19.999800	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.810000	1.000000	1.000000	0.987730	0.990000	1	9.900000e-01	1
ABCA8	10351	broad.mit.edu	37	17	66864494	66864494	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66864494T>G	ENST00000269080.2	-	37	4732	c.4595A>C	c.(4594-4596)aAa>aCa	p.K1532T	ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T|ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8			83	Breast(10;4.56e-13)				AAAGCTCTGTTTAACTGCATA	0.348000																								0							SO:0001583	missense			ENST00000269080.2	1	1	hg19	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250391	0.59212	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.81739	-1.53;-1.53	4.6	3.52	0.40303	.	0.000000	0.52532	D	0.000065	D	0.92031	0.7475	H	0.97440	4.005	0.40588	D	0.981466	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.91842	0.5484	10	0.87932	D	0	.	8.1627	0.31209	0.0:0.0918:0.0:0.9082	.	1572;1572;1532	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	T	1532;1572	ENSP00000269080:K1532T;ENSP00000402814:K1572T	ENSP00000269080:K1532T	K	-	2	0	ABCA8	64376089	1.000000	0.71417	0.986000	0.45419	0.598000	0.36846	5.297000	0.65704	0.900000	0.36469	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	0	0	1	53	219	1	61	0	6.639562e-01	0	11	1	61	2		0	0	0	0	0	2	1	9.999999e-01	53	216	1	61	15								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA8	10351	broad.mit.edu	37	17	66891152	66891152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66891152C>T	ENST00000269080.2	-	20	2784	c.2647G>A	c.(2647-2649)Gca>Aca	p.A883T	ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T|ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8			83	Breast(10;4.56e-13)				TCAATGCTTGCCCCTAAGGTG	0.353000																								0							SO:0001583	missense			ENST00000269080.2	1	1	hg19	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521765	0.27211	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.85484	-1.99;-1.99	3.61	-1.24	0.09435	.	0.174631	0.27411	N	0.019481	T	0.77877	0.4196	M	0.68317	2.08	0.26827	N	0.968675	B;B;B;B;B	0.32731	0.167;0.201;0.382;0.088;0.201	B;B;B;B;B	0.36092	0.138;0.217;0.146;0.053;0.217	T	0.63554	-0.6611	10	0.25106	T	0.35	.	2.698	0.05140	0.3924:0.3702:0.0:0.2374	.	862;923;923;923;883	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	883;923;862	ENSP00000269080:A883T;ENSP00000402814:A923T	ENSP00000269080:A883T	A	-	1	0	ABCA8	64402747	0.000000	0.05858	0.934000	0.37439	0.475000	0.33008	-1.033000	0.03571	0.012000	0.14892	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	1	42	233	0	55	0	4.170840e-01	0	9	0	55	2		0	0	0	0	0	2	1	1	41	229	0	55	2								-19.961480	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ABCA8	10351	broad.mit.edu	37	17	66903959	66903959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66903959G>T	ENST00000269080.2	-	16	2217	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T	ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T|ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8			83	Breast(10;4.56e-13)				TTGGCATCAGGGATGTGCTGT	0.333000																								0							SO:0001583	missense			ENST00000269080.2	1	1	hg19	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052592	0.75960	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.68903	-0.36;-0.36	4.9	4.9	0.64082	.	0.000000	0.48286	D	0.000182	D	0.87939	0.6304	H	0.96777	3.88	0.58432	D	0.999999	D;D;P;D;D	0.71674	0.998;0.996;0.758;0.996;0.996	D;D;B;D;D	0.76071	0.987;0.931;0.354;0.969;0.931	D	0.92010	0.5617	10	0.87932	D	0	.	17.2378	0.87004	0.0:0.0:1.0:0.0	.	673;734;734;734;694	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	694;734;673	ENSP00000269080:P694T;ENSP00000402814:P734T	ENSP00000269080:P694T	P	-	1	0	ABCA8	64415554	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.464000	0.53057	2.544000	0.85801	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	1	37	128	0	33	0	5.698302e-01	0	8	0	33	2		0	0	0	0	0	2	1	1	37	125	0	33	2								-3.920118	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA8	10351	broad.mit.edu	37	17	66914273	66914273	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66914273T>C	ENST00000269080.2	-	14	1979	c.1842A>G	c.(1840-1842)caA>caG	p.Q614Q	ABCA8_ENST00000430352.2_Silent_p.Q654Q|ABCA8_ENST00000586539.1_Silent_p.Q654Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8			83	Breast(10;4.56e-13)				GGTTCCATACTTGGTGTCTTG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000269080.2	1	1	hg19	CCDS11680.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	0	65	294	0	65	0	6.191301e-01	0	11	0	65	2		0	0	0	0	0	2	1	1	63	289	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA8	10351	broad.mit.edu	37	17	66925263	66925263	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925263C>A	ENST00000269080.2	-	8	1189	c.1052G>T	c.(1051-1053)aGa>aTa	p.R351I	ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I|ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8			83	Breast(10;4.56e-13)				AGGAAGGTGTCTGTACAGTGA	0.473000																								0							SO:0001583	missense			ENST00000269080.2	1	1	hg19	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070010	0.55539	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86865	-2.18;-2.18	4.67	3.7	0.42460	.	0.000000	0.56097	D	0.000028	D	0.89969	0.6869	M	0.81802	2.56	0.48341	D	0.999631	P;D;B;P;D	0.53151	0.948;0.958;0.229;0.896;0.958	P;P;B;P;P	0.58780	0.745;0.845;0.145;0.578;0.845	D	0.88299	0.2948	10	0.42905	T	0.14	.	5.3451	0.16004	0.0:0.753:0.0:0.247	.	290;351;351;351;351	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	I	351;351;290	ENSP00000269080:R351I;ENSP00000402814:R351I	ENSP00000269080:R351I	R	-	2	0	ABCA8	64436858	0.155000	0.22806	0.973000	0.42090	0.203000	0.24098	1.211000	0.32382	2.592000	0.87571	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	1	27	203	0	58	0	2.495821e-01	0	8	0	58	2		0	0	0	0	0	2	1	1	26	199	0	58	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.950000	1.000000	1.000000	0.997088	0.990000	1	9.900000e-01	1
ABCA8	10351	broad.mit.edu	37	17	66928609	66928609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66928609C>T	ENST00000269080.2	-	6	754	c.617G>A	c.(616-618)gGa>gAa	p.G206E	ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E|ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8			83	Breast(10;4.56e-13)				CATATTTTTTCCAGTAACTGA	0.338000																								0							SO:0001583	missense			ENST00000269080.2	1	1	hg19	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390071	0.61956	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.86164	-2.08;-2.08	4.86	4.86	0.63082	.	0.000000	0.50627	D	0.000113	D	0.93041	0.7785	M	0.83603	2.65	0.45541	D	0.998499	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999	D;D;D;D;D	0.83275	0.991;0.996;0.991;0.978;0.987	D	0.92106	0.5692	10	0.38643	T	0.18	.	13.6644	0.62387	0.0:1.0:0.0:0.0	.	145;206;206;206;206	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	E	206;206;145;206	ENSP00000269080:G206E;ENSP00000402814:G206E	ENSP00000269080:G206E	G	-	2	0	ABCA8	64440204	0.972000	0.33761	0.965000	0.40720	0.557000	0.35523	2.978000	0.49305	2.686000	0.91538	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	1	0	0	34	400	0	105	0	3.410221e-01	0	15	0	105	2		0	0	0	0	0	2	1	1	34	396	0	103	2								-9.380376	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.940000	0.660000	1.000000	1.000000	0.913946	0.940000	1	7.900000e-01	1
ABCA9	10350	broad.mit.edu	37	17	66978725	66978725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66978725C>A	ENST00000340001.4	-	37	4909	c.4698G>T	c.(4696-4698)caG>caT	p.Q1566H	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	p.Q1566H(1)		91	Breast(10;1.47e-12)				TGAAGAAAGCCTGTGATAAAG	0.418000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000340001.4	1	1	hg19	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597965	0.46318	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.84442	-1.85	4.9	2.88	0.33553	.	0.774711	0.10960	N	0.615066	D	0.83110	0.5183	M	0.69248	2.105	0.80722	D	1	B	0.17667	0.023	B	0.23018	0.043	T	0.76564	-0.2913	10	0.52906	T	0.07	.	8.5998	0.33738	0.1522:0.7666:0.0:0.0811	.	1566	Q8IUA7	ABCA9_HUMAN	H	1566;1511	ENSP00000342216:Q1566H	ENSP00000342216:Q1566H	Q	-	3	2	ABCA9	64490320	0.015000	0.18098	0.981000	0.43875	0.996000	0.88848	-0.046000	0.11983	0.569000	0.29329	0.609000	0.83330	CAG		TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1	85	405	0	135	0	7.255861e-01	0	14	0	135	2		0	0	0	0	0	2	1	1	82	397	1	133	14								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA9	10350	broad.mit.edu	37	17	66981212	66981212	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66981212T>C	ENST00000340001.4	-	33	4477	c.4266A>G	c.(4264-4266)tcA>tcG	p.S1422S	ABCA9_ENST00000370732.2_Silent_p.S1422S|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Silent_p.S1384S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				TTATTCCCTCTGACAAGGTCT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000340001.4	1	1	hg19	CCDS11681.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1	79	336	0	91	0	8.600279e-01	0	17	0	91	2		0	0	0	0	0	2	1	1	78	331	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA9	10350	broad.mit.edu	37	17	66987055	66987055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66987055G>A	ENST00000340001.4	-	29	3971	c.3760C>T	c.(3760-3762)Cct>Tct	p.P1254S	ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				TCTCCTTCAGGCTCTTCTGGG	0.388000																								0							SO:0001583	missense			ENST00000340001.4	1	1	hg19	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139931	0.37728	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.88124	-2.19;-2.34	5.4	5.4	0.78164	.	0.000000	0.47093	D	0.000250	D	0.91164	0.7217	M	0.64170	1.965	0.20074	N	0.999939	D;P	0.60160	0.987;0.529	P;B	0.58660	0.843;0.285	D	0.85458	0.1165	10	0.51188	T	0.08	.	17.7247	0.88362	0.0:0.0:1.0:0.0	.	1254;1254	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1254;1199;1254	ENSP00000342216:P1254S;ENSP00000359767:P1254S	ENSP00000342216:P1254S	P	-	1	0	ABCA9	64498650	0.390000	0.25213	0.465000	0.27155	0.137000	0.21094	1.762000	0.38451	2.541000	0.85698	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1	59	272	0	43	0	9.761307e-01	0	30	0	43	2		0	0	0	0	0	2	1	1	57	268	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA9	10350	broad.mit.edu	37	17	66989177	66989177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66989177C>T	ENST00000340001.4	-	27	3815	c.3604G>A	c.(3604-3606)Gta>Ata	p.V1202I	ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I|ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				GCCAGGTATACAATTTCAGAT	0.343000																								0							SO:0001583	missense			ENST00000340001.4	1	1	hg19	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460288	0.12342	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.86366	-2.11;-2.11	4.44	-1.35	0.09114	.	0.876717	0.09469	N	0.797878	T	0.71937	0.3399	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15870	0.008;0.014	T	0.54721	-0.8251	10	0.13853	T	0.58	.	4.1642	0.10298	0.156:0.2935:0.4568:0.0936	.	1202;1202	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1202;1147;1202	ENSP00000342216:V1202I;ENSP00000359767:V1202I	ENSP00000342216:V1202I	V	-	1	0	ABCA9	64500772	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.769000	0.04710	-0.039000	0.13602	0.491000	0.48974	GTA		TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1	42	205	0	65	0	9.372688e-01	0	25	0	65	2		0	0	0	0	0	2	1	1	42	201	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA9	10350	broad.mit.edu	37	17	67004260	67004260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67004260C>T	ENST00000340001.4	-	24	3475	c.3264G>A	c.(3262-3264)atG>atA	p.M1088I	ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I|ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				AAATATAATCCATTATTTGCA	0.363000																								0							SO:0001583	missense			ENST00000340001.4	1	1	hg19	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516910	0.00151	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.84730	-1.89;-1.89	4.8	-0.6	0.11642	.	0.807251	0.10785	N	0.634426	T	0.67988	0.2952	L	0.28504	0.86	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.004;0.006	T	0.50242	-0.8851	10	0.07813	T	0.8	.	0.9723	0.01418	0.3544:0.323:0.1349:0.1877	.	1088;1088	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1088;1071;1088;1083	ENSP00000342216:M1088I;ENSP00000359767:M1088I	ENSP00000342216:M1088I	M	-	3	0	ABCA9	64515855	0.001000	0.12720	0.452000	0.26994	0.001000	0.01503	0.311000	0.19380	0.158000	0.19367	-0.309000	0.09137	ATG		TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	0	37	476	0	121	0	2.768715e-01	0	14	0	121	2		0	0	0	0	0	2	1	1	37	472	0	120	2								-3.075754	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.870000	0.620000	1.000000	1.000000	0.867832	0.870000	1	7.300000e-01	1
ABCA9	10350	broad.mit.edu	37	17	67012395	67012395	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67012395T>C	ENST00000340001.4	-	22	3249	c.3038A>G	c.(3037-3039)gAa>gGa	p.E1013G	ABCA9_ENST00000370732.2_Splice_Site_p.E1013G|ABCA9_ENST00000453985.2_Splice_Site_p.E1013G|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				TATACTTACTTCAAAAAATGT	0.303000																								0							SO:0001630	splice_region_variant			ENST00000340001.4	1	0	hg19	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	2.146	-0.395629	0.04899	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87729	-2.29;-2.29	5.1	1.41	0.22369	.	0.315900	0.21806	N	0.068845	T	0.79488	0.4454	L	0.55834	1.745	0.19575	N	0.999967	B;B	0.12013	0.004;0.005	B;B	0.15052	0.007;0.012	T	0.61860	-0.6976	10	0.22706	T	0.39	.	4.7522	0.13066	0.2888:0.0834:0.0:0.6278	.	1013;1013	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	1013;996;1013;1008	ENSP00000342216:E1013G;ENSP00000359767:E1013G	ENSP00000342216:E1013G	E	-	2	0	ABCA9	64523990	0.000000	0.05858	0.995000	0.50966	0.008000	0.06430	-0.336000	0.07863	0.274000	0.22072	-0.468000	0.05107	GAA		TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1	27	246	0	76	0	5.818145e-01	0	19	0	76	2		0	0	0	0	0	2	1	1	26	238	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.800000	1.000000	1.000000	0.982835	0.990000	1	9.800000e-01	1
ABCA9	10350	broad.mit.edu	37	17	67016648	67016648	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67016648A>G	ENST00000340001.4	-	19	2692	c.2481T>C	c.(2479-2481)tcT>tcC	p.S827S	ABCA9_ENST00000370732.2_Silent_p.S827S|ABCA9_ENST00000453985.2_Silent_p.S827S|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				CGTGGAAGGAAGACAAAACTT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000340001.4	1	1	hg19	CCDS11681.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	0	0	0	13	509	0	101	0	6.904724e-02	0	16	0	101	2		0	0	0	0	0	2	1	9.995056e-01	13	504	0	100	2								-3.073858	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.310000	0.160000	1.000000	0.290000	0.375389	0.310000	0	2.300000e-01	4.400000e-01
ABCA9	10350	broad.mit.edu	37	17	67020491	67020491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67020491C>T	ENST00000340001.4	-	17	2356	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	ABCA9_ENST00000370732.2_Silent_p.L715L|ABCA9_ENST00000453985.2_Silent_p.L715L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				CATTCAGATGCAAACTAACAT	0.303000																								0							SO:0001819	synonymous_variant			ENST00000340001.4	0	1	hg19	CCDS11681.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	0	13	83	0	25	0	6.618642e-01	0	16	0	25	2		0	0	0	0	0	2	1	9.993992e-01	12	76	0	28	2								-8.967150	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.910000	1.000000	1.000000	0.994856	0.990000	1	9.900000e-01	1
ABCA9	10350	broad.mit.edu	37	17	67022579	67022579	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67022579G>T	ENST00000340001.4	-	16	2291	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M|ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				GCACACTTCAGCTTCCCATTG	0.393000																								0							SO:0001583	missense			ENST00000340001.4	1	1	hg19	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007234	0.54361	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.94330	-3.4;-3.4	5.43	4.47	0.54385	ABC transporter-like (1);	0.000000	0.37857	N	0.001907	D	0.95456	0.8524	L	0.57536	1.79	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95684	0.8734	10	0.87932	D	0	.	13.0931	0.59176	0.0782:0.0:0.9218:0.0	.	694;694	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	694;677;694;689	ENSP00000342216:L694M;ENSP00000359767:L694M	ENSP00000342216:L694M	L	-	1	2	ABCA9	64534174	0.857000	0.29778	0.987000	0.45799	0.321000	0.28281	1.123000	0.31308	1.437000	0.47472	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	0	0	1	237	978	0	266	0	9.777601e-01	0	27	0	266	2		0	0	0	0	0	2	1	1	231	957	0	266	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA9	10350	broad.mit.edu	37	17	67029942	67029942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67029942C>T	ENST00000340001.4	-	9	1412	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T|ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9			91	Breast(10;1.47e-12)				AAAAGAGTAGCTATTATGAGG	0.323000																								0							SO:0001583	missense			ENST00000340001.4	1	1	hg19	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899461	0.52227	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86956	-2.19;-2.19	4.53	3.54	0.40534	.	0.000000	0.44688	D	0.000431	D	0.89364	0.6694	M	0.71036	2.16	0.09310	N	1	D;P	0.59767	0.986;0.56	P;P	0.61201	0.885;0.593	T	0.79711	-0.1689	10	0.33940	T	0.23	.	6.2299	0.20728	0.2849:0.6186:0.0:0.0965	.	401;401	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	401;384;401;396	ENSP00000342216:A401T;ENSP00000359767:A401T	ENSP00000342216:A401T	A	-	1	0	ABCA9	64541537	0.005000	0.15991	0.055000	0.19348	0.031000	0.12232	0.432000	0.21461	2.243000	0.73865	0.603000	0.83216	GCT		TCGA-IB-7651-01A-11D-2154-08	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	1	0	1	53	496	0	97	0	5.040806e-01	0	17	0	97	2		0	0	0	0	0	2	1	1	53	486	0	96	2								-16.014990	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.870000	1.000000	1.000000	0.990698	0.990000	1	9.900000e-01	1
TEKT1	83659	broad.mit.edu	37	17	6704113	6704113	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6704113T>G	ENST00000338694.2	-	7	1131	c.1002A>C	c.(1000-1002)caA>caC	p.Q334H	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1			20		Myeloproliferative disorder(207;0.0255)			TTAGCCTATATTGTGCGACAT	0.572000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000338694.2	1	1	hg19	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.667815	0.29604	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03772	3.81;3.81	5.85	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	M	0.69248	2.105	0.51233	D	0.99991	B	0.23990	0.095	B	0.34873	0.191	T	0.09207	-1.0685	10	0.34782	T	0.22	.	10.0039	0.41946	0.0:0.778:0.0:0.222	.	334	Q969V4	TEKT1_HUMAN	H	334;188	ENSP00000341346:Q334H;ENSP00000444142:Q188H	ENSP00000341346:Q334H	Q	-	3	2	TEKT1	6644837	0.835000	0.29415	0.781000	0.31783	0.005000	0.04900	0.516000	0.22817	0.495000	0.27882	-0.789000	0.03336	CAA		TCGA-IB-7651-01A-11D-2154-08	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	1	0	1	154	672	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1	153	663	0	155	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA6	23460	broad.mit.edu	37	17	67106975	67106975	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67106975T>C	ENST00000284425.2	-	17	2413	c.2239A>G	c.(2239-2241)Act>Gct	p.T747A		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6			82	Breast(10;5.65e-12)				AGTGGCAAAGTATATACAAGC	0.294000																								0							SO:0001583	missense			ENST00000284425.2	0	1	hg19	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.924235	0.34002	.	.	ENSG00000154262	ENST00000284425	T	0.62639	0.01	4.96	4.96	0.65561	.	0.257291	0.26828	N	0.022288	T	0.58977	0.2160	M	0.68317	2.08	0.80722	D	1	B	0.21225	0.053	B	0.25291	0.059	T	0.57069	-0.7874	10	0.33940	T	0.23	.	10.1012	0.42507	0.0:0.0817:0.0:0.9183	.	747	Q8N139	ABCA6_HUMAN	A	747	ENSP00000284425:T747A	ENSP00000284425:T747A	T	-	1	0	ABCA6	64618570	0.000000	0.05858	0.997000	0.53966	0.666000	0.39218	0.058000	0.14301	2.071000	0.62044	0.455000	0.32223	ACT		TCGA-IB-7651-01A-11D-2154-08	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	0	0	0	5	132	0	17	0	9.854803e-02	0	12	0	17	2		0	0	0	0	0	2	1	9.362938e-01	5	130	0	17	2								-8.263186	1	1	121306	3	32	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.480000	0.180000	1.000000	0.420000	0.538610	0.480000	0	3.000000e-01	7.900000e-01
ABCA6	23460	broad.mit.edu	37	17	67109448	67109448	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67109448T>G	ENST00000284425.2	-	15	2130	c.1956A>C	c.(1954-1956)caA>caC	p.Q652H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6			82	Breast(10;5.65e-12)				GGCTCCACACTTGATCTCTGG	0.413000																								0							SO:0001583	missense			ENST00000284425.2	1	1	hg19	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	4.388	0.071542	0.08436	.	.	ENSG00000154262	ENST00000284425	D	0.93763	-3.28	4.93	3.85	0.44370	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.061280	0.07388	N	0.888512	D	0.87977	0.6314	L	0.31804	0.96	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.77464	-0.2578	10	0.27082	T	0.32	.	6.0	0.19515	0.0:0.0892:0.2722:0.6386	.	652	Q8N139	ABCA6_HUMAN	H	652	ENSP00000284425:Q652H	ENSP00000284425:Q652H	Q	-	3	2	ABCA6	64621043	0.001000	0.12720	0.024000	0.17045	0.088000	0.18126	-0.164000	0.09983	1.015000	0.39444	0.523000	0.50628	CAA		TCGA-IB-7651-01A-11D-2154-08	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	1	0	1	50	185	0	45	0	9.810606e-01	0	26	0	45	2		0	0	0	0	0	2	1	1	49	184	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA6	23460	broad.mit.edu	37	17	67111029	67111029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67111029C>A	ENST00000284425.2	-	13	1830	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6			82	Breast(10;5.65e-12)				TTCTGATTTCCTCCAAGTCTT	0.328000																								0							SO:0001583	missense			ENST00000284425.2	1	1	hg19	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569986	0.45798	.	.	ENSG00000154262	ENST00000284425	D	0.94537	-3.45	4.87	3.9	0.45041	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.229900	0.30051	N	0.010528	D	0.86003	0.5829	N	0.04746	-0.17	0.80722	D	1	B	0.24132	0.098	B	0.35688	0.208	T	0.79208	-0.1898	10	0.29301	T	0.29	.	5.1731	0.15120	0.0:0.7539:0.0:0.2461	.	552	Q8N139	ABCA6_HUMAN	D	552	ENSP00000284425:E552D	ENSP00000284425:E552D	E	-	3	2	ABCA6	64622624	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	-0.638000	0.05452	2.686000	0.91538	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	1	0	0	18	355	0	54	0	2.508010e-01	0	19	0	54	2		0	0	0	0	0	2	1	9.999807e-01	17	350	0	53	2								-3.142702	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.590000	0.360000	1.000000	0.570000	0.630060	0.590000	0	4.600000e-01	7.900000e-01
ABCA6	23460	broad.mit.edu	37	17	67119474	67119474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67119474C>T	ENST00000284425.2	-	10	1516	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6			82	Breast(10;5.65e-12)				ATAACCTTAGCATTAGTCCTT	0.373000																								0							SO:0001583	missense			ENST00000284425.2	1	1	hg19	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	2.636	-0.285178	0.05605	.	.	ENSG00000154262	ENST00000284425	D	0.86562	-2.14	4.12	-2.43	0.06522	.	1.589470	0.03812	N	0.266052	T	0.71995	0.3406	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56068	-0.8040	10	0.15499	T	0.54	.	1.2143	0.01911	0.1465:0.263:0.1367:0.4539	.	448	Q8N139	ABCA6_HUMAN	T	448	ENSP00000284425:A448T	ENSP00000284425:A448T	A	-	1	0	ABCA6	64631069	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-0.144000	0.10280	-0.513000	0.06496	-0.264000	0.10439	GCT		TCGA-IB-7651-01A-11D-2154-08	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	1	0	1	45	208	0	42	0	6.592687e-01	0	12	0	42	2		0	0	0	0	0	2	1	1	44	203	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA10	10349	broad.mit.edu	37	17	67215738	67215738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67215738C>A	ENST00000269081.4	-	7	1387	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10			81	Breast(10;6.95e-12)				TTAAATTTTCCTCTTTCCCTT	0.318000																								0							SO:0001587	stop_gained			ENST00000269081.4	0	1	hg19	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	37	6.326935	0.97476	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.73	0.093	0.14474	.	0.456322	0.15526	U	0.257796	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.9642	0.09424	0.0:0.2211:0.371:0.408	.	.	.	.	X	160	.	ENSP00000269081:G160X	G	-	1	0	ABCA10	64727333	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.211000	0.10124	-1.328000	0.01277	GGA		TCGA-IB-7651-01A-11D-2154-08	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	1	0	1	71	265	0	77	0	4.587108e-02	0	2	0	77	2		0	0	0	0	0	2	1	1	70	262	0	77	2								-3.687642	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA5	23461	broad.mit.edu	37	17	67266820	67266820	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67266820A>G	ENST00000392676.3	-	22	3028	c.2964T>C	c.(2962-2964)agT>agC	p.S988S	ABCA5_ENST00000392677.2_Silent_p.S989S|ABCA5_ENST00000588877.1_Silent_p.S988S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5			54	Breast(10;3.72e-11)			Tacrolimus(DB00864)	GATAGTAGTTACTAATGATAT	0.294000																								0							SO:0001819	synonymous_variant			ENST00000392676.3	1	1	hg19	CCDS11685.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1	121	491	0	131	1	7.589414e-01	2	11	0	131	2		0	0	0	0	0	2	1	1	120	481	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA5	23461	broad.mit.edu	37	17	67273834	67273834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67273834C>A	ENST00000392676.3	-	19	2606	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S|ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5			54	Breast(10;3.72e-11)			Tacrolimus(DB00864)	TGAAACTTTGCTATTGTATAC	0.353000																								0							SO:0001583	missense			ENST00000392676.3	1	1	hg19	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316960	0.81469	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88046	-2.32;-2.33	5.73	4.74	0.60224	.	0.085848	0.49916	D	0.000123	D	0.88411	0.6429	M	0.84948	2.725	0.50632	D	0.99988	P;B	0.36162	0.54;0.405	B;B	0.37346	0.247;0.125	D	0.87949	0.2722	9	.	.	.	.	14.6363	0.68692	0.0:0.9248:0.0:0.0752	.	848;848	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	S	848	ENSP00000376444:A848S;ENSP00000376443:A848S	.	A	-	1	0	ABCA5	64785429	1.000000	0.71417	0.936000	0.37596	0.999000	0.98932	3.880000	0.56145	2.861000	0.98227	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1	39	188	0	57	1	7.868810e-01	7	9	0	57	2		0	0	0	0	0	2	1	1	37	185	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ABCA5	23461	broad.mit.edu	37	17	67285372	67285372	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67285372A>C	ENST00000392676.3	-	14	1912	c.1848T>G	c.(1846-1848)agT>agG	p.S616R	ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R|ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5			54	Breast(10;3.72e-11)			Tacrolimus(DB00864)	TTTGACCACCACTTAATTTTT	0.308000																								0							SO:0001583	missense			ENST00000392676.3	1	1	hg19	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673074	0.67928	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.74002	-0.8;-0.8	5.19	2.89	0.33648	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.90202	0.6937	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.939;0.993	D	0.88819	0.3297	9	.	.	.	.	8.3706	0.32412	0.693:0.0:0.307:0.0	.	616;616	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	R	616	ENSP00000376444:S616R;ENSP00000376443:S616R	.	S	-	3	2	ABCA5	64796967	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.949000	0.29109	0.281000	0.22233	0.397000	0.26171	AGT		TCGA-IB-7651-01A-11D-2154-08	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1	56	202	0	42	1	9.058257e-01	2	15	0	42	2		0	0	0	0	0	2	1	1	55	199	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA5	23461	broad.mit.edu	37	17	67299047	67299047	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67299047C>T	ENST00000392676.3	-	8	995	c.931G>A	c.(931-933)Gta>Ata	p.V311I	ABCA5_ENST00000392677.2_Splice_Site_p.V311I|ABCA5_ENST00000588877.1_Splice_Site_p.V311I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5			54	Breast(10;3.72e-11)			Tacrolimus(DB00864)	GCAAAAAATACCTATAAAATA	0.274000																								0							SO:0001630	splice_region_variant			ENST00000392676.3	1	0	hg19	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010767	0.07727	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.80738	-1.41;-1.41	5.08	2.02	0.26589	.	0.118422	0.37304	N	0.002146	T	0.65471	0.2694	N	0.25094	0.71	0.47737	D	0.999501	B;B	0.09022	0.0;0.002	B;B	0.18561	0.003;0.022	T	0.51694	-0.8673	9	.	.	.	.	10.4211	0.44350	0.0:0.7868:0.0:0.2132	.	311;311	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	311	ENSP00000376444:V311I;ENSP00000376443:V311I	.	V	-	1	0	ABCA5	64810642	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	3.100000	0.50275	0.259000	0.21709	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1	18	79	0	19	0	5.309962e-01	1	8	0	19	2		0	0	0	0	0	2	1	9.999888e-01	17	78	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999889	0.990000	1	9.900000e-01	1
ABCA5	23461	broad.mit.edu	37	17	67309352	67309352	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67309352T>G	ENST00000392676.3	-	3	252	c.188A>C	c.(187-189)aAt>aCt	p.N63T	ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T|ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5			54	Breast(10;3.72e-11)			Tacrolimus(DB00864)	GAGTTCTATATTAGGCACTTC	0.289000																								0							SO:0001583	missense			ENST00000392676.3	1	1	hg19	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	0.302	-0.973050	0.02215	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87571	-2.27;-2.27	5.0	5.0	0.66597	.	0.185380	0.37715	N	0.001965	T	0.74253	0.3692	N	0.08118	0	0.27216	N	0.959792	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.58999	-0.7536	9	.	.	.	.	14.367	0.66812	0.0:0.0:0.0:1.0	.	63;63	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	63	ENSP00000376444:N63T;ENSP00000376443:N63T	.	N	-	2	0	ABCA5	64820947	0.995000	0.38212	0.826000	0.32828	0.580000	0.36256	3.619000	0.54196	1.879000	0.54435	0.477000	0.44152	AAT		TCGA-IB-7651-01A-11D-2154-08	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	1	0	1	48	166	0	23	1	4.935301e-01	4	3	0	23	2		0	0	0	0	0	2	1	1	48	162	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEKT1	83659	broad.mit.edu	37	17	6733612	6733612	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6733612G>A	ENST00000338694.2	-	2	213	c.84C>T	c.(82-84)gaC>gaT	p.D28D	TEKT1_ENST00000535086.1_De_novo_Start_OutOfFrame	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1			20		Myeloproliferative disorder(207;0.0255)			ACCTTTGAGCGTCTGCTCTGT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000338694.2	1	0	hg19	CCDS11083.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	1	0	0	33	286	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	32	279	0	55	2								-12.742500	1	0	121412	2	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.870000	1.000000	1.000000	0.992080	0.990000	1	9.900000e-01	1
MAP2K6	5608	broad.mit.edu	37	17	67513640	67513640	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67513640G>A	ENST00000590474.1	+	4	419		c.e4-1		MAP2K6_ENST00000589647.1_Splice_Site	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6			20	Breast(10;6.05e-10)				CTCTCTTGCAGAACTTTGAGG	0.473000																								0							SO:0001630	splice_region_variant			ENST00000590474.1	1	1	hg19	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520818	0.85495	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8901	0.88869	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K6	65025235	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.715000	0.98748	2.634000	0.89283	0.585000	0.79938	.		TCGA-IB-7651-01A-11D-2154-08	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	1	0	0	25	129	0	34	0	0	1	0	0	34	2		0	0	0	0	0	2	1	9.999999e-01	24	124	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999937	0.990000	1	9.900000e-01	1
MAP2K6	5608	broad.mit.edu	37	17	67522730	67522730	+	Missense_Mutation	SNP	G	G	A	rs146595343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67522730G>A	ENST00000590474.1	+	10	1048	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	p.R254L(1)		20	Breast(10;6.05e-10)				GCCATCCTTCGATTTCCCTAT	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000590474.1	1	1	hg19	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453096	0.63290	4.54E-4	4.65E-4	ENSG00000108984	ENST00000359094	.	.	.	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061266	0.64402	D	0.000007	T	0.44623	0.1302	N	0.13168	0.305	0.49483	D	0.999798	P	0.43826	0.818	P	0.45310	0.476	T	0.22626	-1.0211	8	.	.	.	-17.1079	19.4236	0.94732	0.0:0.0:1.0:0.0	.	254	P52564	MP2K6_HUMAN	Q	254	.	.	R	+	2	0	MAP2K6	65034325	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.365000	0.52335	2.937000	0.99478	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	1	0	1	86	375	0	77	1	7.973412e-01	6	9	0	77	2		0	0	0	0	0	2	1	1	86	365	0	77	2								-3.031846	1	1	121412	41	50	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNJ16	3773	broad.mit.edu	37	17	68128301	68128301	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128301A>G	ENST00000589377.1	+	2	236	c.73A>G	c.(73-75)Att>Gtt	p.I25V	KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000585558.1_Missense_Mutation_p.I60V|KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16			32	Breast(10;2.96e-09)				GCCAGAGCACATTATAGCTGA	0.453000																								0							SO:0001583	missense			ENST00000589377.1	1	1	hg19	CCDS11687.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	1.321	-0.599456	0.03744	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.88124	-2.34;-2.34;-2.34	5.99	-8.19	0.01049	.	1.981030	0.01750	N	0.029873	T	0.70815	0.3267	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62793	-0.6779	9	.	.	.	.	9.4275	0.38590	0.2183:0.0992:0.5854:0.0971	.	25;25	A8K434;Q9NPI9	.;IRK16_HUMAN	V	25	ENSP00000283936:I25V;ENSP00000376439:I25V;ENSP00000376438:I25V	.	I	+	1	0	KCNJ16	65639896	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.346000	0.07760	-1.825000	0.01207	-0.248000	0.11899	ATT		TCGA-IB-7651-01A-11D-2154-08	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	1	0	1	114	389	0	106	0	9.049686e-01	0	16	0	106	2		0	0	0	0	0	2	1	1	113	383	0	105	2								-20.000000	1	0	121412	19	46	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNJ16	3773	broad.mit.edu	37	17	68128331	68128331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128331C>T	ENST00000589377.1	+	2	266	c.103C>T	c.(103-105)Cga>Tga	p.R35*	KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000585558.1_Nonsense_Mutation_p.R70*|KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16			32	Breast(10;2.96e-09)				AGCAAGAAGACGATTACTTCA	0.453000																								0							SO:0001587	stop_gained			ENST00000589377.1	0	1	hg19	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347020	0.95807	0.0	1.16E-4	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	.	.	.	5.99	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2882	0.73846	0.2567:0.7432:0.0:0.0	.	.	.	.	X	35	.	.	R	+	1	2	KCNJ16	65639926	0.638000	0.27225	0.057000	0.19452	0.005000	0.04900	1.272000	0.33109	0.847000	0.35167	-0.127000	0.14921	CGA		TCGA-IB-7651-01A-11D-2154-08	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	1	0	0	42	566	0	134	0	4.390198e-01	0	21	0	134	2		0	0	0	0	0	2	1	1	42	556	0	132	2								-9.377830	1	0	121412	1	39	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.830000	0.600000	1.000000	1.000000	0.840516	0.830000	0	7.100000e-01	1
KCNJ2	3759	broad.mit.edu	37	17	68171388	68171388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68171388G>A	ENST00000243457.3	+	2	591	c.208G>A	c.(208-210)Gca>Aca	p.A70T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2			25	Breast(10;1.64e-08)				ACGGTACCTCGCAGACATCTT	0.522000																								0							SO:0001583	missense			ENST00000243457.3	1	1	hg19	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004413	0.19199	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93953	-3.32;-3.32	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.048397	0.85682	D	0.000000	D	0.88934	0.6572	L	0.35487	1.065	0.53005	D	0.999968	B	0.25743	0.133	B	0.26416	0.069	D	0.84807	0.0788	9	.	.	.	.	14.5682	0.68194	0.0:0.0:0.8539:0.1461	.	70	P63252	IRK2_HUMAN	T	70	ENSP00000441848:A70T;ENSP00000243457:A70T	.	A	+	1	0	KCNJ2	65682983	1.000000	0.71417	0.944000	0.38274	0.766000	0.43426	7.871000	0.87180	2.662000	0.90505	0.555000	0.69702	GCA		TCGA-IB-7651-01A-11D-2154-08	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	1	0	1	86	376	0	89	0	5.234989e-01	0	9	0	89	2		0	0	0	0	0	2	1	1	86	371	0	89	2								-20.000000	1	1	121412	5	41	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL6B	255877	broad.mit.edu	37	17	6927518	6927518	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6927518C>T	ENST00000293805.5	+	3	388	c.296C>T	c.(295-297)tCg>tTg	p.S99L	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B			1					ATGTACACTTCGCGCCTGCGC	0.642000																								0							SO:0001583	missense			ENST00000293805.5	1	1	hg19	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528841	0.96446	.	.	ENSG00000161940	ENST00000293805	T	0.71461	-0.57	5.18	5.18	0.71444	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	H	0.95504	3.68	0.48830	D	0.999714	D	0.89917	1.0	D	0.97110	1.0	D	0.91724	0.5391	10	0.87932	D	0	.	16.2254	0.82286	0.0:1.0:0.0:0.0	.	99	Q8N143	BCL6B_HUMAN	L	99	ENSP00000293805:S99L	ENSP00000293805:S99L	S	+	2	0	BCL6B	6868242	1.000000	0.71417	0.932000	0.37286	0.913000	0.54294	7.174000	0.77620	2.691000	0.91804	0.563000	0.77884	TCG		TCGA-IB-7651-01A-11D-2154-08	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	1	0	0	90	857	0	147	0	4.606096e-01	0	16	0	147	2		0	0	0	0	0	2	1	1	89	838	0	146	2								-19.999940	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.920000	1.000000	1.000000	0.994934	0.990000	1	9.900000e-01	1
SLC16A13	201232	broad.mit.edu	37	17	6941494	6941494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941494G>A	ENST00000308027.6	+	3	675	c.367G>A	c.(367-369)Gct>Act	p.A123T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13			10					TTTGACCTTCGCTCCGACCCT	0.587000																								0							SO:0001583	missense			ENST00000308027.6	1	1	hg19	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446434	0.12223	.	.	ENSG00000174327	ENST00000308027	T	0.57436	0.4	5.39	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.159139	0.56097	N	0.000030	T	0.15176	0.0366	N	0.00864	-1.135	0.27525	N	0.951288	B	0.02656	0.0	B	0.04013	0.001	T	0.32079	-0.9920	10	0.02654	T	1	.	3.697	0.08368	0.7016:0.0:0.1083:0.19	.	123	Q7RTY0	MOT13_HUMAN	T	123	ENSP00000309751:A123T	ENSP00000309751:A123T	A	+	1	0	SLC16A13	6882218	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.698000	0.47068	0.919000	0.36945	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2	1	0	1	73	327	0	70	1	9.940877e-01	16	22	0	70	2		0	0	0	0	0	2	1	1	70	323	0	69	2								-20.000000	1	0	121412	1	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC16A13	201232	broad.mit.edu	37	17	6941591	6941591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941591T>G	ENST00000308027.6	+	3	772	c.464T>G	c.(463-465)tTt>tGt	p.F155C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13			10					TCCTTCACATTTGCCCCCTTT	0.642000																								0							SO:0001583	missense			ENST00000308027.6	1	1	hg19	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876462	0.72180	.	.	ENSG00000174327	ENST00000308027	T	0.57595	0.39	5.54	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.105795	0.64402	D	0.000003	T	0.73353	0.3576	M	0.87180	2.865	0.44807	D	0.997815	D	0.89917	1.0	D	0.85130	0.997	T	0.75889	-0.3158	10	0.87932	D	0	.	9.6037	0.39622	0.0:0.0831:0.0:0.9169	.	155	Q7RTY0	MOT13_HUMAN	C	155	ENSP00000309751:F155C	ENSP00000309751:F155C	F	+	2	0	SLC16A13	6882315	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.627000	0.83176	0.935000	0.37341	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2	1	0	1	72	341	0	78	1	9.779140e-01	7	24	0	78	2		0	0	0	0	0	2	1	1	70	326	0	75	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASGR2	433	broad.mit.edu	37	17	7012170	7012170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7012170G>A	ENST00000380952.2	-	3	426	c.162C>T	c.(160-162)tgC>tgT	p.C54C	ASGR2_ENST00000446679.2_Silent_p.C35C|ASGR2_ENST00000254850.7_Silent_p.C35C|ASGR2_ENST00000355035.5_Silent_p.C54C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2			18				Antihemophilic Factor(DB00025)	AGACCATGGAGCAGAGACGCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000380952.2	0	1	hg19	CCDS32544.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	0	0	0	21	81	0	14	0	2.879505e-01	0	5	0	14	2		0	0	0	0	0	2	1	9.999987e-01	21	79	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
ASGR2	433	broad.mit.edu	37	17	7017525	7017525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7017525C>A	ENST00000380952.2	-	2	299	c.35G>T	c.(34-36)aGc>aTc	p.S12I	ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I|ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2			18				Antihemophilic Factor(DB00025)	TTCCTCCGAGCTCAGCTGCTG	0.577000																								0							SO:0001583	missense			ENST00000380952.2	1	1	hg19	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036924	0.19669	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.17691	5.55;2.26;5.55;2.26	3.59	1.37	0.22104	.	0.553741	0.15021	N	0.284975	T	0.10809	0.0264	N	0.08118	0	0.23371	N	0.997814	P;D;P;P;P	0.53151	0.925;0.958;0.645;0.757;0.731	P;P;P;P;B	0.49451	0.611;0.563;0.46;0.544;0.395	T	0.13308	-1.0514	10	0.66056	D	0.02	.	5.1295	0.14903	0.0:0.2587:0.0:0.7413	.	12;12;12;12;12	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2	.;.;ASGR2_HUMAN;.;.	I	12	ENSP00000347140:S12I;ENSP00000254850:S12I;ENSP00000370339:S12I;ENSP00000405844:S12I	ENSP00000254850:S12I	S	-	2	0	ASGR2	6958249	0.899000	0.30636	0.905000	0.35620	0.174000	0.22865	0.538000	0.23160	0.268000	0.21939	-0.312000	0.09012	AGC		TCGA-IB-7651-01A-11D-2154-08	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	1	0	0	32	400	0	64	0	7.175364e-02	0	6	0	64	2		0	0	0	0	0	2	1	1	31	388	0	63	2								-9.053733	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.900000	0.620000	1.000000	1.000000	0.885407	0.900000	1	7.500000e-01	1
ASGR1	432	broad.mit.edu	37	17	7080161	7080161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7080161C>T	ENST00000269299.3	-	5	742	c.343G>A	c.(343-345)Gac>Aac	p.D115N	ASGR1_ENST00000572879.1_Intron|ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N|ASGR1_ENST00000574388.1_Missense_Mutation_p.D76N	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1			10					TCACTCAGGTCCTTCTGCTGT	0.547000																								0							SO:0001583	missense			ENST00000269299.3	1	1	hg19	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760776	0.31137	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T;T	0.43294	1.0;0.95	4.89	1.23	0.21249	Hepatic lectin, N-terminal (1);	0.961393	0.08593	N	0.922639	T	0.35770	0.0943	M	0.62723	1.935	0.20196	N	0.99993	B	0.31625	0.332	B	0.27380	0.079	T	0.37033	-0.9723	10	0.66056	D	0.02	.	3.4939	0.07648	0.2051:0.544:0.0:0.2508	.	115	P07306	ASGR1_HUMAN	N	115;76	ENSP00000269299:D115N;ENSP00000370307:D76N	ENSP00000269299:D115N	D	-	1	0	ASGR1	7020885	0.237000	0.23815	0.075000	0.20258	0.470000	0.32858	0.841000	0.27613	0.167000	0.19631	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	1	0	0	28	493	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	9.999999e-01	24	455	0	89	2								-3.317325	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.650000	0.440000	1.000000	0.640000	0.689655	0.650000	0	5.300000e-01	8.400000e-01
DLG4	1742	broad.mit.edu	37	17	7106591	7106591	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7106591C>A	ENST00000399506.2	-	7	754	c.563G>T	c.(562-564)aGc>aTc	p.S188I	DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000399510.2_Missense_Mutation_p.S231I|DLG4_ENST00000302955.6_Missense_Mutation_p.S185I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)			18				Guanidine(DB00536)	TACATAGATGCTATTATCTCC	0.577000																								0							SO:0001583	missense			ENST00000399506.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.0	4.360385	0.82353	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.51924	0.1703	L	0.56340	1.77	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.986;0.97;0.988;0.961;0.999	D;D;D;D;D	0.83275	0.989;0.961;0.944;0.945;0.996	T	0.53308	-0.8457	9	0.87932	D	0	.	16.3121	0.82883	0.0:1.0:0.0:0.0	.	228;188;185;185;231	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	I	188;185;231;231;128;231;221;218	ENSP00000382425:S188I;ENSP00000307471:S185I;ENSP00000382428:S231I;ENSP00000388122:S218I	ENSP00000293813:S231I	S	-	2	0	DLG4	7047315	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.484000	0.81180	2.447000	0.82792	0.557000	0.71058	AGC		TCGA-IB-7651-01A-11D-2154-08	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	1	0	1	27	148	0	25	1	9.809838e-01	2	36	0	25	2		0	0	0	0	0	2	1	1	26	145	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999926	0.990000	1	9.900000e-01	1
COG1	9382	broad.mit.edu	37	17	71196797	71196797	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71196797A>T	ENST00000299886.4	+	6	1243	c.1163A>T	c.(1162-1164)gAg>gTg	p.E388V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1			18			LUSC - Lung squamous cell carcinoma(166;0.197)		GCCATGTGGGAGTTACTTACC	0.507000																								0							SO:0001583	missense			ENST00000299886.4	1	1	hg19	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969484	0.34754	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.25749	1.78;1.78	5.53	3.26	0.37387	.	0.454480	0.26424	N	0.024450	T	0.31040	0.0784	M	0.65975	2.015	0.52501	D	0.999954	P;P;P	0.49253	0.921;0.756;0.921	P;B;P	0.47744	0.556;0.372;0.556	T	0.02450	-1.1157	10	0.34782	T	0.22	-5.8888	8.2047	0.31446	0.7958:0.1345:0.0696:0.0	.	388;388;388	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	V	388	ENSP00000400111:E388V;ENSP00000299886:E388V	ENSP00000299886:E388V	E	+	2	0	COG1	68708392	1.000000	0.71417	0.446000	0.26920	0.759000	0.43091	4.832000	0.62759	0.369000	0.24510	0.460000	0.39030	GAG		TCGA-IB-7651-01A-11D-2154-08	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1	1	0	1	112	375	0	103	1	1	29	92	0	103	2		0	0	0	0	0	2	1	1	107	358	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COG1	9382	broad.mit.edu	37	17	71197321	71197321	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71197321T>G	ENST00000299886.4	+	7	1435	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1			18			LUSC - Lung squamous cell carcinoma(166;0.197)		TTGCAGGAACTTGAAAGCAGC	0.463000																								0							SO:0001583	missense			ENST00000299886.4	1	1	hg19	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368777	0.24771	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.30182	1.54;1.54	5.28	4.17	0.49024	.	0.126983	0.53938	N	0.000047	T	0.52853	0.1760	M	0.77616	2.38	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.959;0.981;0.959	T	0.50931	-0.8769	10	0.29301	T	0.29	-13.324	12.3305	0.55038	0.0:0.0:0.1416:0.8584	.	452;452;452	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	R	452	ENSP00000400111:L452R;ENSP00000299886:L452R	ENSP00000299886:L452R	L	+	2	0	COG1	68708916	1.000000	0.71417	0.116000	0.21606	0.749000	0.42624	7.457000	0.80775	0.906000	0.36621	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1	1	0	1	117	516	0	112	1	9.999997e-01	32	62	0	112	2		0	0	0	0	0	2	1	1	115	507	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf80	55028	broad.mit.edu	37	17	71232062	71232062	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232062T>C	ENST00000535032.2	+	2	554	c.441T>C	c.(439-441)tcT>tcC	p.S147S	C17orf80_ENST00000268942.8_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Silent_p.S147S|C17orf80_ENST00000255557.4_Silent_p.S147S|C17orf80_ENST00000359042.2_Silent_p.S147S			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80			14			LUSC - Lung squamous cell carcinoma(166;0.197)		AGAAAACCTCTCCTAAAAGAG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000535032.2	1	1	hg19	CCDS11694.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	1	0	1	92	420	0	70	1	9.998363e-01	18	42	0	70	2		0	0	0	0	0	2	1	1	90	416	0	70	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf80	55028	broad.mit.edu	37	17	71232128	71232128	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232128T>C	ENST00000535032.2	+	2	620	c.507T>C	c.(505-507)gcT>gcC	p.A169A	C17orf80_ENST00000268942.8_Silent_p.A169A|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Silent_p.A169A|C17orf80_ENST00000255557.4_Silent_p.A169A|C17orf80_ENST00000359042.2_Silent_p.A169A			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80			14			LUSC - Lung squamous cell carcinoma(166;0.197)		CTTCAGAAGCTGGAGCGTCTT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000535032.2	1	1	hg19	CCDS11694.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	1	0	1	103	440	0	81	1	9.993153e-01	18	30	0	81	2		0	0	0	0	0	2	1	1	101	436	0	81	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C17orf80	55028	broad.mit.edu	37	17	71232555	71232555	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232555A>G	ENST00000535032.2	+	2	1047	c.934A>G	c.(934-936)Aat>Gat	p.N312D	C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D|C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D|C17orf80_ENST00000359042.2_Missense_Mutation_p.N312D			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80			14			LUSC - Lung squamous cell carcinoma(166;0.197)		GAGCAAAGGAAATGCAGAGAA	0.443000																								0							SO:0001583	missense			ENST00000535032.2	1	1	hg19	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513546	0.85389	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;D;T;T;D	0.84070	2.56;-1.8;2.56;2.75;-1.8	5.28	-0.487	0.12060	.	0.649385	0.14750	N	0.300635	D	0.83050	0.5170	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.76494	0.986;0.976;0.986;0.999	P;P;P;D	0.64321	0.844;0.722;0.844;0.924	T	0.70193	-0.4939	10	0.18710	T	0.47	-8.5098	2.3039	0.04169	0.4772:0.2917:0.0892:0.1418	.	312;312;312;312	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	D	312	ENSP00000255557:N312D;ENSP00000351937:N312D;ENSP00000268942:N312D;ENSP00000396970:N312D;ENSP00000440551:N312D	ENSP00000255557:N312D	N	+	1	0	C17orf80	68744150	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	0.729000	0.26028	0.004000	0.14682	0.459000	0.35465	AAT		TCGA-IB-7651-01A-11D-2154-08	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	1	0	1	35	178	0	55	1	9.992338e-01	6	53	0	55	2		0	0	0	0	0	2	1	1	34	174	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
C17orf80	55028	broad.mit.edu	37	17	71233036	71233036	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71233036A>G	ENST00000535032.2	+	2	1528	c.1415A>G	c.(1414-1416)tAc>tGc	p.Y472C	C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C|FAM104A_ENST00000583178.1_5'Flank|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C|C17orf80_ENST00000359042.2_Missense_Mutation_p.Y472C			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80			14			LUSC - Lung squamous cell carcinoma(166;0.197)		TATCCTGGTTACCTTGGACTA	0.552000																								0							SO:0001583	missense			ENST00000535032.2	1	1	hg19	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.913766	0.72983	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.29	5.29	0.74685	.	0.000000	0.46758	D	0.000263	T	0.40909	0.1136	M	0.71581	2.175	0.40242	D	0.977972	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.37174	-0.9717	10	0.72032	D	0.01	-8.7091	13.2035	0.59782	1.0:0.0:0.0:0.0	.	472;472;472;472	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	C	472	ENSP00000255557:Y472C;ENSP00000351937:Y472C;ENSP00000268942:Y472C;ENSP00000396970:Y472C;ENSP00000440551:Y472C	ENSP00000255557:Y472C	Y	+	2	0	C17orf80	68744631	0.983000	0.35010	0.966000	0.40874	0.970000	0.65996	3.727000	0.54984	1.998000	0.58463	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	1	0	1	46	228	0	63	1	9.922527e-01	12	28	0	63	2		0	0	0	0	0	2	1	1	45	220	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42EP4	23580	broad.mit.edu	37	17	71282594	71282594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71282594G>A	ENST00000335793.3	-	2	440	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C|CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4			14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		CGGGAACGGCGCTTGGAGTGC	0.682000																								0							SO:0001583	missense			ENST00000335793.3	1	1	hg19	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859681	0.91433	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.37584	1.19;1.34	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.54214	-0.8327	10	0.56958	D	0.05	-22.2573	13.1241	0.59344	0.0:0.0:0.8396:0.1603	.	16;16	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	C	16	ENSP00000338258:R16C;ENSP00000404270:R16C	ENSP00000338258:R16C	R	-	1	0	CDC42EP4	68794189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.548000	0.60718	2.378000	0.81104	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	1	0	1	37	140	0	33	1	1	38	115	0	33	2		0	0	0	0	0	2	1	1	36	137	0	33	2								-20.000000	1	1	121342	2	29	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DVL2	1856	broad.mit.edu	37	17	7129389	7129389	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7129389G>A	ENST00000005340.5	-	15	2288	c.2006C>T	c.(2005-2007)cCg>cTg	p.P669L	DVL2_ENST00000575458.1_Missense_Mutation_p.P663L|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2			25					GCCAGGGGGCGGTCCATAGGG	0.667000																								0							SO:0001583	missense			ENST00000005340.5	1	1	hg19	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	5.040	0.193054	0.09599	.	.	ENSG00000004975	ENST00000005340	T	0.04275	3.66	5.74	3.6	0.41247	Dishevelled C-terminal (1);	0.445516	0.24407	N	0.038790	T	0.02156	0.0067	N	0.08118	0	0.19575	N	0.999962	P;P	0.38110	0.618;0.618	B;B	0.27715	0.082;0.082	T	0.50092	-0.8868	10	0.25106	T	0.35	-4.3549	10.3068	0.43685	0.0:0.1472:0.7005:0.1523	.	663;669	B4DLQ0;O14641	.;DVL2_HUMAN	L	669	ENSP00000005340:P669L	ENSP00000005340:P669L	P	-	2	0	DVL2	7070113	1.000000	0.71417	0.523000	0.27875	0.974000	0.67602	4.992000	0.63889	1.396000	0.46663	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	1	0	1	79	295	0	52	1	1	40	86	0	52	2		0	0	0	0	0	2	1	1	77	289	0	52	2								-3.875079	1	1	121390	2	18	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DVL2	1856	broad.mit.edu	37	17	7130980	7130980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7130980G>A	ENST00000005340.5	-	11	1507	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	DVL2_ENST00000575458.1_Missense_Mutation_p.P403S|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2			25					TCACCATCAGGCAAAGACGAT	0.612000																								0							SO:0001583	missense			ENST00000005340.5	1	1	hg19	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555622	0.45487	.	.	ENSG00000004975	ENST00000005340	T	0.05855	3.38	4.69	4.69	0.59074	.	0.121077	0.56097	D	0.000032	T	0.09291	0.0229	L	0.55213	1.73	0.42008	D	0.990925	P;B	0.38711	0.643;0.435	B;B	0.42422	0.387;0.157	T	0.13656	-1.0501	10	0.30078	T	0.28	-11.0428	10.2236	0.43212	0.0:0.0:0.802:0.198	.	403;409	B4DLQ0;O14641	.;DVL2_HUMAN	S	409	ENSP00000005340:P409S	ENSP00000005340:P409S	P	-	1	0	DVL2	7071704	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.964000	0.63701	2.446000	0.82766	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	1	0	1	37	144	0	32	1	9.999985e-01	22	64	0	32	2		0	0	0	0	0	2	1	1	35	139	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DVL2	1856	broad.mit.edu	37	17	7133391	7133391	+	Missense_Mutation	SNP	C	C	T	rs144205338	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7133391C>T	ENST00000005340.5	-	4	776	c.494G>A	c.(493-495)cGc>cAc	p.R165H	DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2			25					GTCTCTCCTGCGAGGCCGCTC	0.642000																								0							SO:0001583	missense			ENST00000005340.5	1	1	hg19	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495159	0.85069	.	.	ENSG00000004975	ENST00000005340	T	0.04970	3.52	5.32	5.32	0.75619	Dishevelled protein domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.56280	1.765	0.47341	D	0.999391	D;D;D;D	0.89917	1.0;0.977;1.0;1.0	D;P;D;D	0.87578	0.998;0.581;0.997;0.97	T	0.00759	-1.1578	10	0.32370	T	0.25	-14.4293	10.0093	0.41977	0.0:0.9077:0.0:0.0923	.	72;159;165;165	B4DM44;B4DLQ0;B4E2D6;O14641	.;.;.;DVL2_HUMAN	H	165	ENSP00000005340:R165H	ENSP00000005340:R165H	R	-	2	0	DVL2	7074115	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.760000	0.68793	2.492000	0.84095	0.609000	0.83330	CGC		TCGA-IB-7651-01A-11D-2154-08	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	0	0	0	14	298	0	65	1	9.681324e-01	6	119	0	65	2		0	0	0	0	0	2	1	9.997057e-01	14	287	0	64	2								-3.342323	1	1	121412	2	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.560000	0.310000	1.000000	0.520000	0.605546	0.560000	0	4.200000e-01	7.900000e-01
SDK2	54549	broad.mit.edu	37	17	71354234	71354234	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71354234G>A	ENST00000392650.3	-	40	5577	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.I1840I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2			86					GTCTGGCCTCGATGACGTAGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000392650.3	1	1	hg19	CCDS45769.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	0	0	1	197	879	1	168	0	2.299117e-01	1	4	1	168	2	1	1	262	1014	0	1106	2	1	1	194	867	0	166	2								-20.000000	1	1	121406	4	43	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDK2	54549	broad.mit.edu	37	17	71364628	71364628	+	Silent	SNP	G	G	T	rs146100082	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71364628G>T	ENST00000392650.3	-	37	5085	c.5085C>A	c.(5083-5085)gcC>gcA	p.A1695A	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1676A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2			86					TGACCATGTAGGCCGTGTAGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000392650.3	0	1	hg19	CCDS45769.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	1	9	76	0	19	0	7.154850e-02	0	4	0	19	2	1	1	235	975	1	1060	6	1	9.950648e-01	9	76	0	19	2								-15.435240	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.650000	1.000000	1.000000	0.963157	0.990000	1	9.200000e-01	1
SDK2	54549	broad.mit.edu	37	17	71398243	71398243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398243G>A	ENST00000392650.3	-	19	2522	c.2522C>T	c.(2521-2523)aCc>aTc	p.T841I	SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2			86					GGTCACCATGGTAACCTCCTC	0.587000																								0							SO:0001583	missense			ENST00000392650.3	1	1	hg19	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005846	0.54254	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57107	0.42;0.42;1.57	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108394	0.64402	D	0.000007	T	0.40645	0.1125	L	0.28556	0.865	0.51233	D	0.999915	B;B	0.17038	0.013;0.02	B;B	0.17979	0.02;0.014	T	0.22034	-1.0228	10	0.36615	T	0.2	.	12.2987	0.54862	0.0782:0.0:0.9218:0.0	.	841;841	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	I	465;841;841;17;841	ENSP00000376421:T841I;ENSP00000373378:T841I;ENSP00000407098:T17I	ENSP00000324967:T841I	T	-	2	0	SDK2	68909838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.646000	0.74348	2.540000	0.85666	0.597000	0.82753	ACC		TCGA-IB-7651-01A-11D-2154-08	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	1	47	220	0	60	0	2.202880e-01	0	5	0	60	2	1	1	135	496	0	591	2	1	1	47	215	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDK2	54549	broad.mit.edu	37	17	71398273	71398273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398273G>A	ENST00000392650.3	-	19	2492	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2			86					CGGCTCCCAGGCGATCAGCTG	0.602000																								0							SO:0001583	missense			ENST00000392650.3	1	1	hg19	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276295	0.59649	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.55413	0.52;0.52;1.51	4.94	4.94	0.65067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055352	0.64402	D	0.000001	T	0.39600	0.1084	N	0.20401	0.57	0.52501	D	0.99995	B;B	0.16396	0.017;0.016	B;B	0.29785	0.067;0.107	T	0.22103	-1.0226	10	0.30078	T	0.28	.	12.0414	0.53454	0.0798:0.0:0.9202:0.0	.	831;831	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	V	455;831;831;7;831	ENSP00000376421:A831V;ENSP00000373378:A831V;ENSP00000407098:A7V	ENSP00000324967:A831V	A	-	2	0	SDK2	68909868	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.414000	0.73318	2.470000	0.83445	0.499000	0.49734	GCC		TCGA-IB-7651-01A-11D-2154-08	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	0	11	220	0	61	0	3.657045e-02	0	6	0	61	2	1	9.976529e-01	15	423	1	434	6	1	9.982926e-01	11	216	0	60	2								-13.499760	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.600000	0.310000	1.000000	0.550000	0.633585	0.600000	0	4.300000e-01	8.500000e-01
SDK2	54549	broad.mit.edu	37	17	71418553	71418553	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71418553G>A	ENST00000392650.3	-	15	1918	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SDK2_ENST00000388726.3_Silent_p.L640L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2			86					ACACTGGCCAGGAGTACAGTC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000392650.3	1	1	hg19	CCDS45769.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	1	0	1	103	472	0	118	0	2.233079e-01	0	5	0	118	2	1	1	175	766	0	972	2	1	1	98	461	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YBX2	51087	broad.mit.edu	37	17	7195345	7195345	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7195345C>A	ENST00000007699.5	-	3	432	c.369G>T	c.(367-369)caG>caT	p.Q123H	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2			12					TAGCTCTTACCTGGTGAACAA	0.517000																								0							SO:0001630	splice_region_variant			ENST00000007699.5	1	0	hg19	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327992	0.95733	.	.	ENSG00000006047	ENST00000007699	T	0.35048	1.33	5.05	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.202863	0.44902	D	0.000411	T	0.54287	0.1849	L	0.49256	1.55	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.46359	-0.9197	9	.	.	.	-24.0131	16.7077	0.85376	0.0:1.0:0.0:0.0	.	123	Q9Y2T7	YBOX2_HUMAN	H	123	ENSP00000007699:Q123H	.	Q	-	3	2	YBX2	7136069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.905000	0.75714	2.744000	0.94065	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	1	0	1	63	294	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	61	290	0	64	2								-3.032990	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTYH2	94015	broad.mit.edu	37	17	72239532	72239532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239532C>T	ENST00000269346.4	+	5	729	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2			36					CTACCTCCTGCTCTTTATCCT	0.622000																								0							SO:0001583	missense			ENST00000269346.4	1	1	hg19	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489369	0.44249	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.17370	2.28;2.28	5.25	2.17	0.27698	.	0.127696	0.53938	N	0.000052	T	0.27524	0.0676	M	0.88450	2.955	0.80722	D	1	P;P	0.45634	0.752;0.863	B;P	0.45506	0.393;0.483	T	0.03068	-1.1076	10	0.66056	D	0.02	-10.2815	5.8943	0.18931	0.1365:0.6405:0.0:0.223	.	198;219	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	F	219;198	ENSP00000269346:L219F;ENSP00000433089:L198F	ENSP00000269346:L219F	L	+	1	0	TTYH2	69751127	1.000000	0.71417	0.913000	0.36048	0.929000	0.56500	2.743000	0.47442	0.230000	0.21059	-0.181000	0.13052	CTC		TCGA-IB-7651-01A-11D-2154-08	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1	1	0	1	97	407	0	107	1	9.852329e-01	3	27	0	107	2		0	0	0	0	0	2	1	1	94	396	1	107	16								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTYH2	94015	broad.mit.edu	37	17	72239558	72239558	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239558C>T	ENST00000269346.4	+	5	755	c.681C>T	c.(679-681)tgC>tgT	p.C227C	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.C206C	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2			36					TGGTCATCTGCCTCATTGCCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000269346.4	1	1	hg19	CCDS32717.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1	1	0	0	96	447	0	120	1	9.852891e-01	2	31	0	120	2		0	0	0	0	0	2	1	1	93	437	0	120	2								-20.000000	1	0	121412	1	31	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEURL4	84461	broad.mit.edu	37	17	7226812	7226812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7226812C>T	ENST00000399464.2	-	14	2424	c.2409G>A	c.(2407-2409)tgG>tgA	p.W803*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	p.W803F(2)		34					ACCTCAGCATCCATGTGTCAT	0.572000																								2	Substitution - Missense(2)						SO:0001587	stop_gained			ENST00000399464.2	0	1	hg19	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	38	7.242072	0.98157	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6908	17.0257	0.86446	0.0:1.0:0.0:0.0	.	.	.	.	X	803	.	ENSP00000319826:W803X	W	-	3	0	NEURL4	7167536	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.167000	0.77562	2.571000	0.86741	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	1	0	1	40	170	0	51	1	9.823033e-01	4	26	0	51	2		0	0	0	0	0	2	1	1	40	167	0	50	2								-3.534206	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEURL4	84461	broad.mit.edu	37	17	7228226	7228226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228226G>A	ENST00000399464.2	-	9	1720	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C|NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	p.R569C(2)		34					TTGTCGATGCGCACCTGGAAC	0.577000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												2	Substitution - Missense(2)						SO:0001583	missense			ENST00000399464.2	1	1	hg19	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902919	0.92035	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74209	-0.82;-0.82	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.059752	0.64402	D	0.000002	D	0.88651	0.6494	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90554	0.4511	10	0.87932	D	0	-18.7945	17.9982	0.89191	0.0:0.0:1.0:0.0	.	569;569	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	569	ENSP00000319826:R569C;ENSP00000382390:R569C	ENSP00000319826:R569C	R	-	1	0	NEURL4	7168950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.700000	0.84556	2.608000	0.88229	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	1	0	1	152	647	0	176	1	9.567221e-01	3	21	0	176	2		0	0	0	0	0	2	1	1	151	628	0	175	2								-20.000000	1	1	121278	3	40	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEURL4	84461	broad.mit.edu	37	17	7228773	7228773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228773C>T	ENST00000399464.2	-	8	1401	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	NEURL4_ENST00000315614.7_Silent_p.T462T|NEURL4_ENST00000570460.1_Silent_p.T440T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4			34					CCACTGGGGGCGTCAAGGGGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000399464.2	0	1	hg19	CCDS42251.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	0	0	0	9	349	0	76	0	1.004432e-01	0	19	0	76	2		0	0	0	0	0	2	1	9.935846e-01	9	339	0	75	2								-8.909538	1	0	120944	6	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.320000	0.150000	1.000000	0.290000	0.396420	0.320000	0	2.200000e-01	4.900000e-01
DNAI2	64446	broad.mit.edu	37	17	72301399	72301399	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72301399C>A	ENST00000311014.6	+	9	1096	c.1029C>A	c.(1027-1029)atC>atA	p.I343I	DNAI2_ENST00000579490.1_Silent_p.I400I|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000446837.2_Silent_p.I343I|DNAI2_ENST00000582036.1_Silent_p.I343I|AC103809.1_ENST00000516976.1_RNA			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2			39					GCATCGTCATCTCCTGCAACC	0.572000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000311014.6	1	1	hg19	CCDS11697.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	1	0	1	69	311	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	68	308	0	70	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAI2	64446	broad.mit.edu	37	17	72308348	72308348	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72308348C>T	ENST00000311014.6	+	12	1768	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	DNAI2_ENST00000579490.1_Silent_p.A624A|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Silent_p.A567A|DNAI2_ENST00000582036.1_Silent_p.A555A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2			39					AGGCAGACGCCATAAAGCTGA	0.607000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000311014.6	0	1	hg19	CCDS11697.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	1	0	1	12	98	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.991643e-01	12	96	0	16	2								-19.306730	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.730000	1.000000	1.000000	0.977015	0.990000	1	9.900000e-01	1
KIF19	124602	broad.mit.edu	37	17	72339244	72339244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72339244C>T	ENST00000389916.4	+	5	539	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19			41					CTCTTCCGTGCCATCGAGGAG	0.592000																								0							SO:0001583	missense			ENST00000389916.4	1	1	hg19	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274337	0.59649	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75260	-0.65;-0.92	5.48	4.51	0.55191	Kinesin, motor domain (4);	.	.	.	.	T	0.74390	0.3710	L	0.33137	0.985	0.58432	D	0.999995	P;D;P;P	0.60575	0.943;0.988;0.611;0.611	P;P;B;B	0.59643	0.811;0.861;0.219;0.408	T	0.69617	-0.5097	9	0.17369	T	0.5	.	13.3003	0.60321	0.0:0.9221:0.0:0.0779	.	134;134;134;134	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	134	ENSP00000449134:A134V;ENSP00000374566:A134V	ENSP00000374566:A134V	A	+	2	0	KIF19	69850839	1.000000	0.71417	0.943000	0.38184	0.254000	0.26022	5.590000	0.67530	1.342000	0.45619	-0.265000	0.10407	GCC		TCGA-IB-7651-01A-11D-2154-08	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	1	0	0	8	147	0	34	0	3.628154e-03	0	2	0	34	2		0	0	0	0	0	2	1	9.896908e-01	8	146	0	34	2								-11.069430	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.660000	0.300000	1.000000	1.000000	0.682834	0.660000	0	4.500000e-01	9.800000e-01
KIF19	124602	broad.mit.edu	37	17	72345379	72345379	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72345379C>T	ENST00000389916.4	+	10	1242	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19			41					CCAGCATCATCGCTGACCTGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000389916.4	1	1	hg19	CCDS32718.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	1	0	1	37	175	0	35	0	2.188427e-01	0	5	0	35	2		0	0	0	0	0	2	1	1	37	171	0	35	2								-3.411512	1	1	121404	7	35	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KIF19	124602	broad.mit.edu	37	17	72346711	72346711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72346711C>T	ENST00000389916.4	+	11	1523	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19			41					CTCACCATCGCCGGGTAAGCC	0.672000																								0							SO:0001583	missense			ENST00000389916.4	1	1	hg19	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066952	0.76301	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74209	-0.82;-0.58	5.67	5.67	0.87782	.	.	.	.	.	D	0.84538	0.5494	M	0.69823	2.125	0.58432	D	0.999999	P;D;P;P	0.65815	0.923;0.995;0.837;0.734	P;P;P;P	0.62560	0.754;0.904;0.713;0.559	D	0.84054	0.0371	9	0.46703	T	0.11	.	18.5927	0.91220	0.0:1.0:0.0:0.0	.	462;420;420;462	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	420;462	ENSP00000449134:A420V;ENSP00000374566:A462V	ENSP00000374566:A462V	A	+	2	0	KIF19	69858306	1.000000	0.71417	0.614000	0.29051	0.022000	0.10575	6.963000	0.76055	2.695000	0.91970	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	1	0	1	18	135	0	29	0	4.294226e-02	0	3	0	29	2		0	0	0	0	0	2	1	9.999840e-01	18	131	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.880000	1.000000	1.000000	0.992857	0.990000	1	9.900000e-01	1
GPRC5C	55890	broad.mit.edu	37	17	72435964	72435964	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72435964C>A	ENST00000481232.1	+	2	695	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392627.1_Missense_Mutation_p.L62M			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C			17					GCCTCTCTTCCTGTTCCCAGG	0.642000																								0							SO:0001583	missense			ENST00000481232.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	7.074	0.568859	0.13560	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T;T	0.20200	2.09;2.12	5.49	3.36	0.38483	.	0.416385	0.21947	N	0.066782	T	0.33673	0.0871	L	0.59436	1.845	0.09310	N	1	P;P;P;D	0.60160	0.826;0.651;0.763;0.987	B;B;B;P	0.58391	0.259;0.259;0.444;0.838	T	0.06607	-1.0817	10	0.87932	D	0	-2.0659	8.7494	0.34607	0.0:0.7846:0.0:0.2154	.	17;17;29;17	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	M	17;62;17;29;17	ENSP00000376405:L29M;ENSP00000376404:L17M	ENSP00000262616:L17M	L	+	1	2	GPRC5C	69947559	0.093000	0.21703	0.426000	0.26672	0.968000	0.65278	1.296000	0.33389	1.143000	0.42306	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2	1	0	1	67	288	0	53	1	9.999973e-01	31	52	0	53	2		0	0	0	0	0	2	1	1	66	284	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRC5C	55890	broad.mit.edu	37	17	72436648	72436648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72436648G>A	ENST00000392627.1	+	2	1994	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C			17					TGGGGTCTTTGTGCTCCTCAC	0.607000																								0							SO:0001583	missense			ENST00000392627.1	1	1	hg19	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189503	0.38707	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.88975	-2.45	5.79	3.69	0.42338	GPCR, family 3, C-terminal (2);	0.299751	0.34268	N	0.004116	D	0.88633	0.6489	L	0.48642	1.525	0.37849	D	0.929327	P;P;P	0.42620	0.785;0.785;0.745	P;P;P	0.55345	0.774;0.675;0.664	D	0.88618	0.3161	10	0.87932	D	0	-17.0307	4.3277	0.11048	0.2478:0.174:0.5783:0.0	.	245;245;257	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	M	245;290;257;245	ENSP00000376405:V257M	ENSP00000340595:V290M	V	+	1	0	GPRC5C	69948243	0.968000	0.33430	0.997000	0.53966	0.348000	0.29142	1.942000	0.40243	1.454000	0.47793	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2	1	0	1	24	264	0	57	1	9.980535e-01	23	87	0	57	2		0	0	0	0	0	2	1	9.999997e-01	24	260	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.660000	1.000000	1.000000	0.933841	0.990000	1	8.200000e-01	1
GPRC5C	55890	broad.mit.edu	37	17	72439974	72439974	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72439974C>A	ENST00000481232.1	+	3	934	c.423C>A	c.(421-423)caC>caA	p.H141Q	GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000392627.1_Missense_Mutation_p.P402T			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C			17					GCCGGTGTCACCATACAGCGG	0.572000																								0							SO:0001583	missense			ENST00000481232.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508381	0.27036	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18810	2.19	5.3	5.3	0.74995	.	0.298370	0.36519	N	0.002557	T	0.43233	0.1238	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;0.981;0.981;0.992	T	0.28004	-1.0057	10	0.72032	D	0.01	-21.0327	16.4521	0.83994	0.0:1.0:0.0:0.0	.	68;357;357;369	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	T	357;402;68;369;357	ENSP00000376405:P369T	ENSP00000262616:P68T	P	+	1	0	GPRC5C	69951569	1.000000	0.71417	0.676000	0.29932	0.318000	0.28184	5.328000	0.65887	2.483000	0.83821	0.643000	0.83706	CCA		TCGA-IB-7651-01A-11D-2154-08	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2	1	0	1	67	291	0	69	1	1	75	100	0	69	2		0	0	0	0	0	2	1	1	67	283	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD300A	11314	broad.mit.edu	37	17	72477915	72477915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72477915G>A	ENST00000360141.3	+	6	1005	c.717G>A	c.(715-717)tgG>tgA	p.W239*	CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*|CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule			16					TGCTGATGTGGCCTCTGCAGG	0.637000																								0							SO:0001587	stop_gained			ENST00000360141.3	0	1	hg19	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082356	0.36758	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000310828	.	.	.	4.11	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1405	0.25554	0.0:0.2098:0.6069:0.1833	.	.	.	.	X	43;239;126	.	ENSP00000308188:W126X	W	+	3	0	CD300A	69989510	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.979000	0.29500	0.627000	0.30340	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	1	0	0	15	86	0	10	0	9.999780e-01	0	118	0	10	2		0	0	0	0	0	2	1	9.999013e-01	15	84	0	10	2								-19.999990	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998285	0.990000	1	9.900000e-01	1
KCTD11	147040	broad.mit.edu	37	17	7256385	7256385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256385C>A	ENST00000333751.3	+	1	1178	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11			4		Prostate(122;0.157)			TTTCCTGAGGCTGGGCCGCCT	0.662000																								0							SO:0001583	missense			ENST00000333751.3	1	1	hg19	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243281	0.58995	.	.	ENSG00000213859	ENST00000333751	T	0.76578	-1.03	5.27	4.29	0.51040	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.218004	0.22695	U	0.056762	T	0.81517	0.4839	L	0.49778	1.585	0.30483	N	0.772147	D	0.65815	0.995	D	0.68621	0.959	T	0.78081	-0.2343	10	0.59425	D	0.04	.	7.1681	0.25702	0.1675:0.7433:0.0:0.0891	.	42	Q693B1	KCD11_HUMAN	M	42	ENSP00000328352:L42M	ENSP00000328352:L42M	L	+	1	2	KCTD11	7197109	0.002000	0.14202	1.000000	0.80357	0.637000	0.38172	0.356000	0.20181	2.466000	0.83321	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	1	0	1	41	168	0	52	1	9.999815e-01	12	60	0	52	2		0	0	0	0	0	2	1	1	40	166	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD11	147040	broad.mit.edu	37	17	7256700	7256700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256700G>A	ENST00000333751.3	+	1	1493	c.439G>A	c.(439-441)Gat>Aat	p.D147N	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11			4		Prostate(122;0.157)			GGCCAGTGGGGATAGGGCAGA	0.637000																								0							SO:0001583	missense			ENST00000333751.3	0	1	hg19	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.500956	0.12822	.	.	ENSG00000213859	ENST00000333751	T	0.69040	-0.37	4.99	4.99	0.66335	.	0.487982	0.16655	U	0.205050	T	0.45216	0.1331	N	0.14661	0.345	0.31909	N	0.614981	B	0.23058	0.079	B	0.18871	0.023	T	0.37663	-0.9696	10	0.02654	T	1	.	13.7657	0.62992	0.0:0.0:1.0:0.0	.	147	Q693B1	KCD11_HUMAN	N	147	ENSP00000328352:D147N	ENSP00000328352:D147N	D	+	1	0	KCTD11	7197424	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	2.761000	0.47589	2.316000	0.78162	0.462000	0.41574	GAT		TCGA-IB-7651-01A-11D-2154-08	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	0	0	0	10	623	0	103	0	2.653964e-01	1	57	0	103	2		0	0	0	0	0	2	1	9.962213e-01	9	600	0	101	2								-7.488460	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.200000	0.090000	1.000000	0.190000	0.287466	0.200000	0	1.400000e-01	3.100000e-01
KCTD11	147040	broad.mit.edu	37	17	7256823	7256823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256823C>T	ENST00000333751.3	+	1	1616	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11			4		Prostate(122;0.157)			AGGAGAGCGGCGGGAGGTGGT	0.677000																								0							SO:0001583	missense			ENST00000333751.3	1	1	hg19	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237051	0.58886	.	.	ENSG00000213859	ENST00000333751	T	0.71461	-0.57	4.94	2.86	0.33363	.	0.130623	0.29009	U	0.013434	T	0.68430	0.3000	N	0.19112	0.55	0.29962	N	0.819331	D	0.76494	0.999	P	0.62014	0.897	T	0.66642	-0.5872	10	0.66056	D	0.02	.	9.9281	0.41505	0.3702:0.6298:0.0:0.0	.	188	Q693B1	KCD11_HUMAN	W	188	ENSP00000328352:R188W	ENSP00000328352:R188W	R	+	1	2	KCTD11	7197547	0.144000	0.22641	0.592000	0.28758	0.930000	0.56654	0.415000	0.21181	0.622000	0.30249	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	1	0	1	51	202	0	38	1	9.999710e-01	11	54	0	38	2		0	0	0	0	0	2	1	1	51	188	0	32	2								-20.000000	1	1	121060	6	35	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM95	339168	broad.mit.edu	37	17	7258594	7258594	+	Missense_Mutation	SNP	C	C	T	rs141789227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7258594C>T	ENST00000576060.1	+	1	98	c.71C>T	c.(70-72)gCc>gTc	p.A24V	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V|TMEM95_ENST00000389982.4_Missense_Mutation_p.A24V			Q3KNT9	TMM95_HUMAN	transmembrane protein 95			3		Prostate(122;0.173)			CGCCTCCCAGCCCACGACTTG	0.662000																								0							SO:0001583	missense			ENST00000576060.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.74	3.688647	0.68271	2.27E-4	0.0	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	-3.19	0.05171	.	0.596942	0.13945	N	0.351909	T	0.31167	0.0788	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33238	0.403;0.403;0.403	B;B;B	0.38842	0.161;0.283;0.161	T	0.24012	-1.0172	9	0.41790	T	0.15	.	14.8977	0.70656	0.7628:0.2372:0.0:0.0	.	24;24;24	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	V	24	.	ENSP00000331466:A24V	A	+	2	0	TMEM95	7199318	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-0.615000	0.05597	-0.717000	0.04955	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	1	0	1	36	193	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	35	192	0	35	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
C17orf77	146723	broad.mit.edu	37	17	72588204	72588204	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72588204T>C	ENST00000392620.1	+	3	381	c.19T>C	c.(19-21)Tca>Cca	p.S7P	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77			11					ATTGGCGCTGTCATTTTCCCT	0.463000																								0							SO:0001583	missense			ENST00000392620.1	1	1	hg19	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	T	3.776	-0.046570	0.07407	.	.	ENSG00000182352	ENST00000524389;ENST00000392620;ENST00000328023	T;T	0.54866	0.55;0.55	2.47	-2.1	0.07210	.	.	.	.	.	T	0.28200	0.0696	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18967	-1.0320	9	0.87932	D	0	.	6.4509	0.21903	0.0:0.3307:0.0:0.6693	.	7	Q96MU5	CQ077_HUMAN	P	7	ENSP00000376396:S7P;ENSP00000329353:S7P	ENSP00000329353:S7P	S	+	1	0	C17orf77	70099799	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.118000	0.10692	-0.473000	0.06871	-0.961000	0.02630	TCA		TCGA-IB-7651-01A-11D-2154-08	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	1	0	1	103	489	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	101	483	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM95	339168	broad.mit.edu	37	17	7259362	7259362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259362G>A	ENST00000576060.1	+	4	349	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T|TMEM95_ENST00000389982.4_Missense_Mutation_p.A108T			Q3KNT9	TMM95_HUMAN	transmembrane protein 95			3		Prostate(122;0.173)			CTGTCCCCCCGCCTGCCGTGA	0.597000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000576060.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.46	1.944504	0.34283	0.0	1.16E-4	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	4.79	1.7	0.24286	.	0.179711	0.27176	N	0.020567	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	0.999995	B;P;B	0.34462	0.168;0.454;0.168	B;B;B	0.26614	0.022;0.071;0.022	T	0.10989	-1.0606	9	0.45353	T	0.12	.	4.215	0.10530	0.1913:0.0:0.6273:0.1814	.	108;108;108	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	T	108	.	ENSP00000331466:A108T	A	+	1	0	TMEM95	7200086	0.001000	0.12720	0.233000	0.24025	0.123000	0.20343	0.341000	0.19909	0.250000	0.21479	-0.215000	0.12644	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	1	0	1	118	412	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	115	405	0	90	2								-3.575372	1	1	121412	1	34	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM95	339168	broad.mit.edu	37	17	7259562	7259562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259562G>A	ENST00000576060.1	+	5	403	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M|TMEM95_ENST00000389982.4_Missense_Mutation_p.V126M			Q3KNT9	TMM95_HUMAN	transmembrane protein 95			3		Prostate(122;0.173)			GGGGACGGAGGTGTCCTGCTG	0.687000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000576060.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.04	3.009211	0.54361	.	.	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	5.14	4.17	0.49024	.	0.856802	0.09501	N	0.793645	T	0.40448	0.1117	N	0.19112	0.55	0.09310	N	1	P;D;P	0.58620	0.936;0.983;0.936	P;P;P	0.58873	0.73;0.847;0.73	T	0.26155	-1.0111	9	0.62326	D	0.03	.	9.6214	0.39723	0.0945:0.0:0.9055:0.0	.	126;126;134	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	M	126;134	.	ENSP00000331466:V134M	V	+	1	0	TMEM95	7200286	0.786000	0.28738	0.023000	0.16930	0.046000	0.14306	4.520000	0.60524	1.410000	0.46936	-0.291000	0.09656	GTG		TCGA-IB-7651-01A-11D-2154-08	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	1	0	1	53	176	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	53	175	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD300LF	146722	broad.mit.edu	37	17	72699238	72699238	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72699238C>A	ENST00000326165.6	-	3	494		c.e3-1		CD300LF_ENST00000464910.1_Splice_Site|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S|CD300LF_ENST00000301573.9_Splice_Site|CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.A146S|CD300LF_ENST00000343125.4_Splice_Site|CD300LF_ENST00000469092.1_Splice_Site|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f			12					GTGACTGGTGCTGTAAACGTA	0.567000																								0							SO:0001630	splice_region_variant			ENST00000326165.6	1	0	hg19	CCDS11704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.397|5.397	0.258510|0.258510	0.10239|0.10239	.|.	.|.	ENSG00000186074|ENSG00000186074	ENST00000301573;ENST00000343125;ENST00000326165|ENST00000361254	.|T	.|0.03663	.|3.85	4.35|4.35	0.167|0.167	0.15006|0.15006	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02193	.|0.0068	.|.	.|.	.|.	0.20196|0.20196	N|N	0.999926|0.999926	.|P;B	.|0.35272	.|0.493;0.42	.|B;B	.|0.29176	.|0.045;0.099	.|T	.|0.48833	.|-0.9000	.|7	.|.	.|.	.|.	.|.	6.1128|6.1128	0.20110|0.20110	0.0:0.5579:0.0:0.4421|0.0:0.5579:0.0:0.4421	.|.	.|143;146	.|E7EME0;Q8TDQ1-2	.|.;.	.|S	-1|146	.|ENSP00000355294:A146S	.|.	.|A	-|-	.|1	.|0	CD300LF|CD300LF	70210833|70210833	0.013000|0.013000	0.17824|0.17824	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-0.022000|-0.022000	0.12480|0.12480	0.221000|0.221000	0.20879|0.20879	0.655000|0.655000	0.94253|0.94253	.|GCA		TCGA-IB-7651-01A-11D-2154-08	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	1	0	0	50	314	0	92	0	6.686280e-01	0	16	0	92	2		0	0	0	0	0	2	1	1	47	301	0	92	2								-19.996230	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
CD300LF	146722	broad.mit.edu	37	17	72700910	72700910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72700910C>T	ENST00000326165.6	-	2	200	c.89G>A	c.(88-90)gGc>gAc	p.G30D	CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D|CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|CD300LF_ENST00000469092.1_Missense_Mutation_p.G33D|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f			12					CCGCTCCAAGCCATTCACTGT	0.542000																								0							SO:0001583	missense			ENST00000326165.6	1	1	hg19	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168291	0.57584	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.35	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261665	0.26700	N	0.022958	D	0.84474	0.5480	H	0.95780	3.72	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.997;0.998;0.997;0.998;0.997	T	0.75286	-0.3371	10	0.87932	D	0	.	8.3165	0.32104	0.154:0.7612:0.0:0.0848	.	30;33;33;30;30;33	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	D	30;33;33;30	ENSP00000301573:G30D;ENSP00000355294:G33D;ENSP00000343751:G33D;ENSP00000327075:G30D	ENSP00000301573:G30D	G	-	2	0	CD300LF	70212505	0.010000	0.17322	0.014000	0.15608	0.001000	0.01503	1.129000	0.31381	1.385000	0.46445	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	1	0	0	21	484	0	112	0	4.608414e-01	0	36	0	112	2		0	0	0	0	0	2	1	9.999970e-01	20	473	0	111	2								-19.769400	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.510000	0.320000	1.000000	0.490000	0.554056	0.510000	0	4.000000e-01	6.700000e-01
SLC9A3R1	9368	broad.mit.edu	37	17	72763082	72763082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72763082G>A	ENST00000262613.5	+	4	960	c.765G>A	c.(763-765)ctG>ctA	p.L255L	SLC9A3R1_ENST00000413388.2_Silent_p.L99L	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1			4					TAGGTCCCCTGCCTGTGCCCT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000262613.5	1	1	hg19	CCDS11705.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1	1	0	1	104	351	0	77	1	1	203	339	0	77	2		0	0	0	0	0	2	1	1	102	339	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC9A3R1	9368	broad.mit.edu	37	17	72764365	72764365	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72764365C>T	ENST00000262613.5	+	5	1073	c.878C>T	c.(877-879)aCc>aTc	p.T293I	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1			4					TCCAGTGACACCAGCGAGGAG	0.642000																								0							SO:0001583	missense			ENST00000262613.5	1	1	hg19	CCDS11705.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039640	0.19669	.	.	ENSG00000109062	ENST00000262613	T	0.31247	1.5	4.37	4.37	0.52481	.	0.489229	0.22378	N	0.060844	T	0.30727	0.0774	M	0.67953	2.075	0.35992	D	0.836765	B	0.12630	0.006	B	0.09377	0.004	T	0.28038	-1.0056	10	0.19147	T	0.46	-12.1327	12.783	0.57487	0.0:1.0:0.0:0.0	.	293	O14745	NHRF1_HUMAN	I	293	ENSP00000262613:T293I	ENSP00000262613:T293I	T	+	2	0	SLC9A3R1	70275960	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	3.450000	0.52957	2.142000	0.66516	0.467000	0.42956	ACC		TCGA-IB-7651-01A-11D-2154-08	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1	1	0	1	100	407	0	89	1	1	231	422	0	89	2		0	0	0	0	0	2	1	1	99	392	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2C	2905	broad.mit.edu	37	17	72838586	72838586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72838586C>T	ENST00000293190.5	-	13	3836	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C			33	all_lung(278;0.172)|Lung NSC(278;0.207)			Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACACTTCTGACTCCAGACTGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000293190.5	1	1	hg19	CCDS32724.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	1	30	167	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	30	166	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999950	0.990000	1	9.900000e-01	1
GRIN2C	2905	broad.mit.edu	37	17	72842218	72842218	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72842218C>A	ENST00000293190.5	-	11	2483	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C			33	all_lung(278;0.172)|Lung NSC(278;0.207)			Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCCCAGGAACTGCAAGAGCG	0.602000																								0							SO:0001583	missense			ENST00000293190.5	1	1	hg19	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774255	0.31411	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.28069	1.63	4.21	2.16	0.27623	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.37850	1.14	0.51233	D	0.999914	D;D	0.71674	0.998;0.99	D;D	0.65140	0.932;0.913	T	0.17258	-1.0375	10	0.87932	D	0	.	10.0838	0.42406	0.0:0.8309:0.0:0.1691	.	813;779	Q8IW23;Q14957	.;NMDE3_HUMAN	H	779;813	ENSP00000293190:Q779H	ENSP00000293190:Q779H	Q	-	3	2	GRIN2C	70353813	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.192000	0.50989	0.504000	0.28082	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	1	85	501	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	1	85	493	0	155	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2C	2905	broad.mit.edu	37	17	72843044	72843044	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843044C>A	ENST00000293190.5	-	10	2163	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C			33	all_lung(278;0.172)|Lung NSC(278;0.207)			Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGTACTGATCTTGAGGCCGC	0.617000																								0							SO:0001583	missense			ENST00000293190.5	1	1	hg19	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307337	0.40795	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.40476	1.03	4.63	4.63	0.57726	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.228759	0.42420	D	0.000702	T	0.46367	0.1389	N	0.22421	0.69	0.58432	D	0.999996	P;D	0.56035	0.896;0.974	B;P	0.57101	0.382;0.813	T	0.51560	-0.8690	10	0.87932	D	0	.	16.7658	0.85523	0.0:1.0:0.0:0.0	.	707;673	Q8IW23;Q14957	.;NMDE3_HUMAN	Y	673;707	ENSP00000293190:D673Y	ENSP00000293190:D673Y	D	-	1	0	GRIN2C	70354639	1.000000	0.71417	0.096000	0.21009	0.899000	0.52679	7.577000	0.82486	2.548000	0.85928	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	0	30	400	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1	30	391	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.840000	0.570000	1.000000	1.000000	0.845829	0.840000	0	7.000000e-01	1
GRIN2C	2905	broad.mit.edu	37	17	72843650	72843650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843650C>T	ENST00000293190.5	-	9	1944	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C			33	all_lung(278;0.172)|Lung NSC(278;0.207)			Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGGACTTGCCGATAGTGAAA	0.652000																								0							SO:0001583	missense			ENST00000293190.5	1	1	hg19	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605203	0.46423	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.49720	0.77	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	N	0.17674	0.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60929	-0.7165	10	0.56958	D	0.05	.	16.89	0.86084	0.0:1.0:0.0:0.0	.	634;600	Q8IW23;Q14957	.;NMDE3_HUMAN	S	600;634	ENSP00000293190:G600S	ENSP00000293190:G600S	G	-	1	0	GRIN2C	70355245	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	7.599000	0.82757	2.357000	0.79964	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	0	34	193	0	45	0	0	1	0	0	45	2		0	0	0	0	0	2	1	1	33	192	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
GRIN2C	2905	broad.mit.edu	37	17	72848164	72848164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72848164T>C	ENST00000293190.5	-	3	1132	c.986A>G	c.(985-987)gAg>gGg	p.E329G	GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C			33	all_lung(278;0.172)|Lung NSC(278;0.207)			Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTAGAAGGCCTCCCGGGCAGG	0.721000																								0							SO:0001583	missense			ENST00000293190.5	1	1	hg19	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154715	0.38021	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.05199	3.48	4.48	4.48	0.54585	.	0.060840	0.64402	D	0.000004	T	0.05181	0.0138	N	0.21448	0.665	0.34608	D	0.717263	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.22556	-1.0213	10	0.33940	T	0.23	.	11.2339	0.48929	0.0:0.0:0.1642:0.8358	.	363;329	Q8IW23;Q14957	.;NMDE3_HUMAN	G	329;363	ENSP00000293190:E329G	ENSP00000293190:E329G	E	-	2	0	GRIN2C	70359759	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.358000	0.34102	2.003000	0.58678	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1	1	0	1	22	73	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.999995e-01	22	72	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FDXR	2232	broad.mit.edu	37	17	72862343	72862343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72862343C>T	ENST00000293195.5	-	5	495	c.417G>A	c.(415-417)cgG>cgA	p.R139R	FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000455107.2_Silent_p.R95R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000413947.2_Silent_p.R170R|FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000442102.2_Silent_p.R182R	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase			16	all_lung(278;0.172)|Lung NSC(278;0.207)			Flavin adenine dinucleotide(DB03147)	TTTCCAGGGCCCGATGGTCCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000293195.5	1	1	hg19	CCDS58593.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	1	0	1	58	306	0	62	1	9.999991e-01	37	73	0	62	2		0	0	0	0	0	2	1	1	57	299	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH1G	124590	broad.mit.edu	37	17	72916088	72916088	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72916088G>A	ENST00000319642.1	-	2	1025	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)		HN1/USH1G(2)	14	all_lung(278;0.172)|Lung NSC(278;0.207)				GGGAGACGCTGTCCTCGTCCG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000319642.1	1	1	hg19	CCDS32725.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	0	0	0	19	456	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	9.999891e-01	19	446	0	72	2								-18.423750	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.490000	0.300000	1.000000	0.470000	0.538103	0.490000	0	3.800000e-01	6.500000e-01
TNK1	8711	broad.mit.edu	37	17	7291949	7291949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7291949C>A	ENST00000576812.1	+	11	2086	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	TNK1_ENST00000570896.1_Missense_Mutation_p.P568T|TNK1_ENST00000311668.2_Missense_Mutation_p.P568T	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1			16		Prostate(122;0.157)			CATGGGAATGCCTGGAGCCCG	0.577000																								0							SO:0001583	missense			ENST00000576812.1	1	1	hg19	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	C	7.371	0.626753	0.14257	.	.	ENSG00000174292	ENST00000311668	T	0.76968	-1.06	5.26	3.28	0.37604	.	0.460571	0.18670	N	0.134461	T	0.58509	0.2127	N	0.08118	0	0.24072	N	0.995972	B;B	0.31548	0.328;0.22	B;B	0.34242	0.178;0.086	T	0.54091	-0.8345	10	0.66056	D	0.02	.	7.5516	0.27800	0.0:0.7366:0.0:0.2634	.	568;573	Q13470-2;Q13470	.;TNK1_HUMAN	T	568	ENSP00000312309:P568T	ENSP00000312309:P568T	P	+	1	0	TNK1	7232673	0.019000	0.18553	0.432000	0.26747	0.022000	0.10575	-0.037000	0.12164	0.735000	0.32537	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	1	0	1	44	226	0	57	1	9.999959e-01	47	52	0	57	2		0	0	0	0	0	2	1	1	43	221	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OTOP2	92736	broad.mit.edu	37	17	72923852	72923852	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72923852G>A	ENST00000580223.1	+	4	632	c.602G>A	c.(601-603)aGt>aAt	p.S201N	OTOP2_ENST00000331427.4_Missense_Mutation_p.S201N			Q7RTS6	OTOP2_HUMAN	otopetrin 2			39	all_lung(278;0.172)|Lung NSC(278;0.207)				TCCTACAGCAGTTCTCACAGC	0.582000																								0							SO:0001583	missense			ENST00000580223.1	1	1	hg19	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482573	0.12581	.	.	ENSG00000183034	ENST00000331427	T	0.21734	1.99	4.75	0.251	0.15540	.	1.299010	0.04493	N	0.379935	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26189	-1.0110	10	0.17369	T	0.5	-15.6766	1.5731	0.02619	0.2565:0.1416:0.4567:0.1451	.	201	Q7RTS6	OTOP2_HUMAN	N	201	ENSP00000332528:S201N	ENSP00000332528:S201N	S	+	2	0	OTOP2	70435447	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.431000	0.21444	-0.002000	0.14469	0.561000	0.74099	AGT		TCGA-IB-7651-01A-11D-2154-08	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	1	0	1	33	143	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	33	142	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OTOP3	347741	broad.mit.edu	37	17	72937646	72937646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72937646C>T	ENST00000328801.4	+	2	232	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3			23	all_lung(278;0.151)|Lung NSC(278;0.185)				TCTGCTGCTGCGGCGGGACCG	0.652000																								0							SO:0001583	missense			ENST00000328801.4	1	1	hg19	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301549	0.60195	.	.	ENSG00000182938	ENST00000328801	T	0.10099	2.91	4.86	4.86	0.63082	.	0.227351	0.26166	N	0.025943	T	0.28995	0.0720	L	0.57536	1.79	0.41707	D	0.989438	D	0.89917	1.0	D	0.67725	0.953	T	0.02161	-1.1203	10	0.87932	D	0	-14.6963	16.1603	0.81700	0.0:1.0:0.0:0.0	.	78	Q7RTS5	OTOP3_HUMAN	W	78	ENSP00000328090:R78W	ENSP00000328090:R78W	R	+	1	2	OTOP3	70449241	0.908000	0.30866	0.997000	0.53966	0.243000	0.25628	1.560000	0.36331	2.230000	0.72887	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	1	0	1	46	221	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	26	138	0	30	2								-20.000000	1	1	121326	1	37	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC16A5	9121	broad.mit.edu	37	17	73096797	73096797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73096797G>A	ENST00000450736.2	+	4	1454	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5			22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)	Pyruvic acid(DB00119)	TGGCATCGGCGCCCTCATCTT	0.592000																								0							SO:0001583	missense			ENST00000450736.2	1	1	hg19	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579837	0.46006	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.51325	0.71;0.71;0.71	4.72	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.289746	0.38326	N	0.001732	T	0.39172	0.1068	M	0.72894	2.215	0.26880	N	0.967566	B;B	0.30439	0.279;0.279	B;B	0.26693	0.066;0.072	T	0.23691	-1.0181	10	0.24483	T	0.36	.	5.3555	0.16059	0.1431:0.0:0.6756:0.1813	.	387;347	B4E288;O15375	.;MOT6_HUMAN	T	347;347;387	ENSP00000330141:A347T;ENSP00000390564:A347T;ENSP00000440212:A387T	ENSP00000330141:A347T	A	+	1	0	SLC16A5	70608392	0.999000	0.42202	0.355000	0.25773	0.842000	0.47809	3.272000	0.51616	0.426000	0.26116	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	1	0	1	73	322	0	77	1	9.999499e-01	20	46	0	77	2		0	0	0	0	0	2	1	1	74	319	0	77	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NT5C	30833	broad.mit.edu	37	17	73126651	73126651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73126651G>A	ENST00000245552.2	-	5	625	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	NT5C_ENST00000582160.1_Silent_p.L94L|NT5C_ENST00000582170.1_Missense_Mutation_p.A178V|NT5C_ENST00000579082.1_5'Flank	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic				all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)	Lamivudine(DB00709)	CAGGAGAGCAGCCGTCTCCTT	0.617000											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000245552.2	1	1	hg19	CCDS11715.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1	0	0	1	119	432	0	98	1	1	62	113	0	98	2		0	0	0	0	0	2	1	1	119	425	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLGN2	57555	broad.mit.edu	37	17	7315515	7315515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7315515C>T	ENST00000302926.2	+	2	570	c.497C>T	c.(496-498)cCg>cTg	p.P166L	NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	p.P166L(1)		22		Prostate(122;0.157)			ACGCTCAATCCGCCAGACACA	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000302926.2	1	1	hg19	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446465	0.25987	.	.	ENSG00000169992	ENST00000302926	T	0.67345	-0.26	5.47	5.47	0.80525	Carboxylesterase, type B (1);	1.061950	0.07418	N	0.893516	T	0.51534	0.1680	N	0.08118	0	0.53688	D	0.999978	B	0.09022	0.002	B	0.01281	0.0	T	0.11131	-1.0600	10	0.33141	T	0.24	.	15.1723	0.72884	0.0:1.0:0.0:0.0	.	166	Q8NFZ4	NLGN2_HUMAN	L	166	ENSP00000305288:P166L	ENSP00000305288:P166L	P	+	2	0	NLGN2	7256239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.133000	0.57983	2.729000	0.93468	0.555000	0.69702	CCG		TCGA-IB-7651-01A-11D-2154-08	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	1	0	0	70	320	0	76	1	9.995779e-01	9	46	0	76	2		0	0	0	0	0	2	1	1	67	312	0	76	2								-2.584332	1	1	121412	2	34	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLGN2	57555	broad.mit.edu	37	17	7318933	7318933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7318933G>A	ENST00000302926.2	+	6	1214	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2			22		Prostate(122;0.157)			CATGCTCATCGGCGTCAACCA	0.587000																								0							SO:0001583	missense			ENST00000302926.2	1	1	hg19	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948818	0.92660	.	.	ENSG00000169992	ENST00000302926	D	0.86030	-2.06	5.41	5.41	0.78517	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94163	0.7416	10	0.87932	D	0	.	16.7464	0.85473	0.0:0.0:1.0:0.0	.	381	Q8NFZ4	NLGN2_HUMAN	S	381	ENSP00000305288:G381S	ENSP00000305288:G381S	G	+	1	0	NLGN2	7259657	1.000000	0.71417	0.928000	0.36995	0.911000	0.54048	9.507000	0.97996	2.826000	0.97356	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	1	0	1	128	597	0	136	1	9.999667e-01	14	56	0	136	2		0	0	0	0	0	2	1	1	129	585	0	135	2								-2.716802	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP85	79902	broad.mit.edu	37	17	73221213	73221213	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73221213C>A	ENST00000245544.4	+	8	684	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_Missense_Mutation_p.L37M|NUP85_ENST00000579298.1_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa			16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)		CATCTTGGTGCTGCAGGGCCG	0.652000																								0							SO:0001583	missense			ENST00000245544.4	1	1	hg19	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728647	0.48833	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.73721	0.3623	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74553	-0.3627	9	0.52906	T	0.07	-11.6694	18.4662	0.90755	0.0:1.0:0.0:0.0	.	205	Q9BW27	NUP85_HUMAN	M	205;159;159;37	.	ENSP00000245544:L205M	L	+	1	2	NUP85	70732808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.489000	0.66875	2.588000	0.87417	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	1	0	1	80	358	0	76	1	9.999459e-01	12	54	0	76	2		0	0	0	0	0	2	1	1	80	347	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP85	79902	broad.mit.edu	37	17	73231271	73231271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73231271G>T	ENST00000245544.4	+	18	1915	c.1844G>T	c.(1843-1845)gGa>gTa	p.G615V	NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000540768.1_Missense_Mutation_p.G218V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa			16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)		CCTGTGCATGGAGAATCTGAT	0.507000																								0							SO:0001583	missense			ENST00000245544.4	1	1	hg19	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280888	0.23392	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.12	-2.26	0.06867	.	1.114660	0.06493	N	0.734919	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.14023	0.01;0.01	T	0.22417	-1.0217	9	0.34782	T	0.22	-0.0383	9.9975	0.41909	0.1515:0.594:0.2545:0.0	.	569;615	B4DMQ3;Q9BW27	.;NUP85_HUMAN	V	615;569;218	.	ENSP00000245544:G615V	G	+	2	0	NUP85	70742866	0.011000	0.17503	0.000000	0.03702	0.010000	0.07245	0.106000	0.15354	-0.503000	0.06586	0.462000	0.41574	GGA		TCGA-IB-7651-01A-11D-2154-08	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	1	0	1	46	238	0	49	1	1	34	116	0	49	2		0	0	0	0	0	2	1	1	45	232	0	49	2								-2.867263	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GGA3	23163	broad.mit.edu	37	17	73234437	73234437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73234437C>T	ENST00000245541.6	-	17	2311	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	GGA3_ENST00000582486.1_Intron|GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000351904.7_Missense_Mutation_p.A666T|GGA3_ENST00000578348.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3			20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		TCCCCCAGGGCGAAGGTCAGC	0.627000											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000245541.6	1	1	hg19	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634461	0.14322	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.38887	1.11;1.11;1.11	5.08	4.08	0.47627	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.463089	0.25601	N	0.029542	T	0.09113	0.0225	N	0.00151	-1.98	0.80722	D	1	B;B	0.20368	0.044;0.031	B;B	0.10450	0.003;0.005	T	0.19745	-1.0296	10	0.06757	T	0.87	-8.533	9.4961	0.38989	0.0:0.8053:0.0:0.1947	.	666;699	Q9NZ52-2;Q9NZ52	.;GGA3_HUMAN	T	699;666;627;577	ENSP00000245541:A699T;ENSP00000326575:A666T;ENSP00000446421:A577T	ENSP00000245541:A699T	A	-	1	0	GGA3	70746032	0.908000	0.30866	0.995000	0.50966	0.983000	0.72400	1.007000	0.29860	1.293000	0.44690	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	1	0	1	60	237	0	67	1	9.999937e-01	13	60	0	67	2		0	0	0	0	0	2	1	1	59	233	0	65	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEM1	374768	broad.mit.edu	37	17	7323765	7323765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323765G>T	ENST00000323675.3	+	1	87	c.62G>T	c.(61-63)aGc>aTc	p.S21I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1			12		Prostate(122;0.173)			AACAGCAACAGCTGCCAGGAC	0.607000																								0							SO:0001583	missense			ENST00000323675.3	1	1	hg19	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893486	0.52121	.	.	ENSG00000181323	ENST00000323675	T	0.56275	0.47	4.97	-9.92	0.00455	.	0.622559	0.14047	N	0.345034	T	0.32704	0.0838	L	0.38175	1.15	0.09310	N	0.99999	P	0.43701	0.815	B	0.40009	0.316	T	0.40213	-0.9575	10	0.66056	D	0.02	-4.0837	9.1542	0.36983	0.163:0.3567:0.4802:0.0	.	21	Q8N4L4	SPEM1_HUMAN	I	21	ENSP00000315554:S21I	ENSP00000315554:S21I	S	+	2	0	SPEM1	7264489	0.029000	0.19370	0.844000	0.33320	0.930000	0.56654	-1.444000	0.02403	-1.398000	0.02066	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	1	0	1	18	57	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999919e-01	18	56	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
GGA3	23163	broad.mit.edu	37	17	73239206	73239206	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73239206G>T	ENST00000245541.6	-	6	682	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582486.1_Missense_Mutation_p.L84M|GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000351904.7_Missense_Mutation_p.L123M|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3			20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		GAGGGGATCAGCGTCCTATCC	0.547000																								0							SO:0001583	missense			ENST00000245541.6	1	1	hg19	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166671	0.38217	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.52295	2.04;0.67	4.85	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.63141	0.2486	M	0.63843	1.955	0.80722	D	1	D;P;D	0.89917	1.0;0.723;0.988	D;P;P	0.87578	0.998;0.64;0.798	T	0.61407	-0.7069	10	0.33141	T	0.24	-16.506	13.0458	0.58925	0.0775:0.0:0.9225:0.0	.	34;123;156	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	M	156;123;84;34	ENSP00000245541:L156M;ENSP00000326575:L123M	ENSP00000245541:L156M	L	-	1	2	GGA3	70750801	0.999000	0.42202	0.986000	0.45419	0.984000	0.73092	2.840000	0.48215	1.256000	0.44068	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	0	0	1	95	444	0	118	1	9.999130e-01	13	52	0	118	2		0	0	0	0	0	2	1	1	91	432	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEM1	374768	broad.mit.edu	37	17	7323996	7323996	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323996T>C	ENST00000323675.3	+	2	220	c.195T>C	c.(193-195)atT>atC	p.I65I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1			12		Prostate(122;0.173)			ATGATACCATTTGTGAGAAAG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000323675.3	1	1	hg19	CCDS42254.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	1	0	0	84	326	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	83	319	0	87	2								-20.000000	1	1	120892	4	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEM1	374768	broad.mit.edu	37	17	7324541	7324541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7324541C>T	ENST00000323675.3	+	3	572	c.547C>T	c.(547-549)Cct>Tct	p.P183S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1			12		Prostate(122;0.173)			CCGCTTCCAGCCTACCGTAGA	0.617000																								0							SO:0001583	missense			ENST00000323675.3	1	1	hg19	CCDS42254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.428|6.428	0.447118|0.447118	0.12223|0.12223	.|.	.|.	ENSG00000181323|ENSG00000181323	ENST00000323383|ENST00000323675	.|.	.|.	.|.	5.77|5.77	-0.132|-0.132	0.13489|0.13489	.|.	.|1.207430	.|0.06081	.|N	.|0.661900	.|T	.|0.29389	.|0.0732	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.13594	.|0.008	.|B	.|0.12156	.|0.007	.|T	.|0.26643	.|-1.0097	.|9	.|0.42905	.|T	.|0.14	.|-0.5037	6.5152|6.5152	0.22244|0.22244	0.0:0.3983:0.4283:0.1734|0.0:0.3983:0.4283:0.1734	.|.	.|183	.|Q8N4L4	.|SPEM1_HUMAN	.|S	-1|183	.|.	.|ENSP00000315554:P183S	.|P	+|+	.|1	.|0	SPEM1|SPEM1	7265265|7265265	0.001000|0.001000	0.12720|0.12720	0.055000|0.055000	0.19348|0.19348	0.003000|0.003000	0.03518|0.03518	-0.510000|-0.510000	0.06328|0.06328	-0.208000|-0.208000	0.10171|0.10171	-0.150000|-0.150000	0.13652|0.13652	.|CCT		TCGA-IB-7651-01A-11D-2154-08	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	1	0	1	34	203	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	34	197	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
C17orf74	201243	broad.mit.edu	37	17	7330031	7330031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7330031C>T	ENST00000333870.3	+	3	795	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74			22		Prostate(122;0.157)			ACCTGAGCTGCGCTGCATGCC	0.642000																								0							SO:0001583	missense			ENST00000333870.3	1	1	hg19	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474133	0.63737	.	.	ENSG00000184560	ENST00000333870	T	0.39056	1.1	3.51	3.51	0.40186	.	0.145422	0.31589	N	0.007383	T	0.50205	0.1602	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52563	-0.8559	10	0.87932	D	0	0.0672	10.8416	0.46720	0.0:1.0:0.0:0.0	.	241	Q0P670	CQ074_HUMAN	C	241	ENSP00000328061:R241C	ENSP00000328061:R241C	R	+	1	0	C17orf74	7270755	0.638000	0.27225	0.996000	0.52242	0.902000	0.53008	0.813000	0.27225	2.248000	0.74166	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	1	0	1	48	194	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	46	193	0	25	2								-3.443751	1	1	121158	3	31	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0195	9772	broad.mit.edu	37	17	73492836	73492836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73492836G>A	ENST00000314256.7	+	25	3663	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195			42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		TATGGCATCCGTAAGTGCTTC	0.607000																								0							SO:0001583	missense			ENST00000314256.7	1	1	hg19	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852943	0.71719	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.89681	-2.55;-2.55	6.04	6.04	0.98038	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.985;1.0	D;D;P;D	0.87578	0.994;0.998;0.604;0.996	D	0.91800	0.5451	10	0.48119	T	0.1	-21.4522	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1100;1100;1090;1090	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	H	1090;1100	ENSP00000313885:R1090H;ENSP00000364397:R1100H	ENSP00000313885:R1090H	R	+	2	0	KIAA0195	71004431	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.834000	0.92094	2.873000	0.98535	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	1	0	1	69	580	0	125	1	9.989482e-01	12	74	0	125	2		0	0	0	0	0	2	1	1	69	566	0	124	2								-13.346540	1	1	121412	4	40	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998982	0.990000	1	9.900000e-01	1
KIAA0195	9772	broad.mit.edu	37	17	73494356	73494356	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494356G>T	ENST00000314256.7	+	28	3984	c.3590G>T	c.(3589-3591)aGc>aTc	p.S1197I	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195			42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		TTCTGTGACAGCTCCCGGGAC	0.612000																								0							SO:0001583	missense			ENST00000314256.7	1	1	hg19	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223097	0.09863	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96300	-3.97;-3.97	5.58	2.12	0.27331	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.295187	0.38897	N	0.001525	D	0.83184	0.5199	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.12630	0.0;0.001;0.006;0.001	B;B;B;B	0.11329	0.001;0.001;0.006;0.001	T	0.72121	-0.4386	10	0.16420	T	0.52	-15.048	1.103	0.01688	0.1932:0.1406:0.3847:0.2815	.	1207;1207;1197;1197	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	I	1197;1207	ENSP00000313885:S1197I;ENSP00000364397:S1207I	ENSP00000313885:S1197I	S	+	2	0	KIAA0195	71005951	0.013000	0.17824	0.950000	0.38849	0.072000	0.16883	0.325000	0.19628	1.370000	0.46153	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	1	0	1	76	321	0	69	1	9.999999e-01	29	73	0	69	2		0	0	0	0	0	2	1	1	75	317	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0195	9772	broad.mit.edu	37	17	73494598	73494598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494598G>A	ENST00000314256.7	+	29	4106	c.3712G>A	c.(3712-3714)Gcc>Acc	p.A1238T	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195			42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		GCTCACGGCCGCCCTGATTGT	0.632000																								0							SO:0001583	missense			ENST00000314256.7	1	1	hg19	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823393	0.50739	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96232	-3.95;-3.95	5.26	4.3	0.51218	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.185058	0.45606	N	0.000351	D	0.88175	0.6366	N	0.11427	0.14	0.35385	D	0.790261	P;P;B;P	0.48162	0.906;0.792;0.002;0.826	B;B;B;B	0.37650	0.255;0.063;0.001;0.104	D	0.88180	0.2870	10	0.21540	T	0.41	-20.8489	8.6701	0.34145	0.0762:0.0:0.7733:0.1505	.	1248;1248;1238;1238	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	T	1238;1248	ENSP00000313885:A1238T;ENSP00000364397:A1248T	ENSP00000313885:A1238T	A	+	1	0	KIAA0195	71006193	0.989000	0.36119	0.871000	0.34182	0.991000	0.79684	2.266000	0.43320	1.217000	0.43442	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	1	0	1	52	224	0	58	1	9.999999e-01	33	73	0	58	2		0	0	0	0	0	2	1	1	52	216	0	57	2								-20.000000	1	1	121394	1	33	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0195	9772	broad.mit.edu	37	17	73495073	73495073	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495073A>G	ENST00000314256.7	+	31	4302	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195			42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		TTTGGCCTGGAGGACGTGCCC	0.632000																								0							SO:0001583	missense			ENST00000314256.7	1	1	hg19	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311005	0.40895	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.95980	-3.87;-3.87	5.88	3.6	0.41247	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.432209	0.25267	N	0.031907	D	0.82820	0.5120	N	0.01705	-0.755	0.21719	N	0.999576	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.70722	-0.4794	10	0.13108	T	0.6	-14.9627	6.6047	0.22720	0.7138:0.1475:0.1387:0.0	.	1313;1313;1333;1303	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	G	1303;1313	ENSP00000313885:E1303G;ENSP00000364397:E1313G	ENSP00000313885:E1303G	E	+	2	0	KIAA0195	71006668	0.445000	0.25657	1.000000	0.80357	0.955000	0.61496	1.345000	0.33953	2.246000	0.74042	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	0	0	0	13	324	0	60	1	8.806743e-01	3	93	0	60	2		0	0	0	0	0	2	1	9.994717e-01	12	316	0	59	2								-13.987930	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.480000	0.260000	1.000000	0.450000	0.529550	0.480000	0	3.600000e-01	6.700000e-01
KIAA0195	9772	broad.mit.edu	37	17	73495078	73495078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495078G>A	ENST00000314256.7	+	31	4307	c.3913G>A	c.(3913-3915)Gtg>Atg	p.V1305M	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M|KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195			42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		CCTGGAGGACGTGCCCCTGCT	0.622000																								0							SO:0001583	missense			ENST00000314256.7	1	1	hg19	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672607	0.47781	2.27E-4	0.0	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96011	-3.88;-3.88	5.88	5.88	0.94601	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.062160	0.64402	D	0.000012	D	0.93390	0.7892	N	0.22421	0.69	0.46078	D	0.998854	P;D;D;D	0.61080	0.952;0.986;0.977;0.989	P;P;P;P	0.55923	0.714;0.681;0.591;0.787	D	0.92320	0.5865	10	0.62326	D	0.03	-22.7561	7.7162	0.28706	0.1903:0.0:0.8097:0.0	.	1315;1315;1335;1305	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	M	1305;1315	ENSP00000313885:V1305M;ENSP00000364397:V1315M	ENSP00000313885:V1305M	V	+	1	0	KIAA0195	71006673	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.945000	0.63568	2.782000	0.95742	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	1	0	1	36	305	0	58	1	9.995822e-01	10	92	0	58	2		0	0	0	0	0	2	1	1	35	296	0	57	2								-20.000000	1	0	121406	8	38	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.900000	1.000000	1.000000	0.994472	0.990000	1	9.900000e-01	1
CASKIN2	57513	broad.mit.edu	37	17	73497582	73497582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73497582G>A	ENST00000321617.3	-	19	4071	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	p.L1159_A1162del(1)		18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		GCTCTTCTCTGCGGCTCTCAG	0.657000																								1	Deletion - In frame(1)						SO:0001583	missense			ENST00000321617.3	1	1	hg19	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645679	0.47258	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.52983	0.64;0.79	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000293	T	0.28267	0.0698	N	0.13043	0.29	0.80722	D	1	B	0.27765	0.188	B	0.29267	0.1	T	0.10894	-1.0610	10	0.06365	T	0.9	.	12.9176	0.58214	0.0741:0.0:0.9259:0.0	.	1162	Q8WXE0	CSKI2_HUMAN	V	1162;1080	ENSP00000325355:A1162V;ENSP00000406963:A1080V	ENSP00000325355:A1162V	A	-	2	0	CASKIN2	71009177	1.000000	0.71417	0.825000	0.32803	0.914000	0.54420	5.221000	0.65272	2.641000	0.89580	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	1	0	1	177	739	0	145	1	9.996472e-01	21	29	0	145	2		0	0	0	0	0	2	1	1	175	726	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASKIN2	57513	broad.mit.edu	37	17	73498457	73498457	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73498457T>C	ENST00000321617.3	-	18	3284	c.2698A>G	c.(2698-2700)Aca>Gca	p.T900A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.T818A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2			18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		CGGGGCCCTGTGGCCCCTTCC	0.731000																								0							SO:0001583	missense			ENST00000321617.3	0	1	hg19	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.384394	0.01194	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69175	-0.38;-0.2	4.87	-9.73	0.00512	.	1.558810	0.04076	N	0.308754	T	0.44932	0.1317	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.24483	T	0.36	.	3.5114	0.07709	0.132:0.097:0.2668:0.5041	.	900	Q8WXE0	CSKI2_HUMAN	A	900;818	ENSP00000325355:T900A;ENSP00000406963:T818A	ENSP00000325355:T900A	T	-	1	0	CASKIN2	71010052	0.000000	0.05858	0.000000	0.03702	0.810000	0.45777	-2.834000	0.00741	-4.320000	0.00056	-0.723000	0.03601	ACA		TCGA-IB-7651-01A-11D-2154-08	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	0	0	0	7	57	0	9	1	3.859059e-01	2	9	0	9	2		0	0	0	0	0	2	1	9.805385e-01	6	56	0	9	2								-16.440330	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.610000	1.000000	1.000000	0.958367	0.990000	1	9.100000e-01	1
CASKIN2	57513	broad.mit.edu	37	17	73499216	73499216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73499216C>T	ENST00000321617.3	-	18	2525	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2			18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		CCCTCGATGGCCATCAGCTCC	0.701000																								0							SO:0001583	missense			ENST00000321617.3	0	1	hg19	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163119	0.57476	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71698	-0.59;-0.41	5.47	3.48	0.39840	.	0.145311	0.31747	N	0.007130	T	0.60971	0.2310	L	0.50333	1.59	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.54105	-0.8343	10	0.34782	T	0.22	.	8.4734	0.32999	0.0:0.7039:0.0:0.2961	.	647	Q8WXE0	CSKI2_HUMAN	T	647;565	ENSP00000325355:A647T;ENSP00000406963:A565T	ENSP00000325355:A647T	A	-	1	0	CASKIN2	71010811	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	0.742000	0.26216	0.680000	0.31366	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	1	0	1	10	91	0	11	1	7.644788e-01	8	19	0	11	2		0	0	0	0	0	2	1	9.972246e-01	10	90	0	10	2								-16.384210	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.630000	1.000000	1.000000	0.954808	0.990000	1	8.800000e-01	1
CASKIN2	57513	broad.mit.edu	37	17	73500901	73500901	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73500901T>C	ENST00000321617.3	-	11	1770	c.1184A>G	c.(1183-1185)gAc>gGc	p.D395G	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2			18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		ACCTGGGCTGTCTGGGCTGAG	0.672000																								0							SO:0001583	missense			ENST00000321617.3	1	1	hg19	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885184	0.72410	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69435	-0.4;-0.23	4.8	4.8	0.61643	.	0.326389	0.22124	N	0.064290	T	0.46190	0.1380	N	0.24115	0.695	0.80722	D	1	P	0.43750	0.816	B	0.36378	0.223	T	0.40040	-0.9584	10	0.19147	T	0.46	.	10.1333	0.42691	0.0:0.0:0.1677:0.8323	.	395	Q8WXE0	CSKI2_HUMAN	G	395;313	ENSP00000325355:D395G;ENSP00000406963:D313G	ENSP00000325355:D395G	D	-	2	0	CASKIN2	71012496	.	.	1.000000	0.80357	0.994000	0.84299	.	.	2.020000	0.59435	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	0	0	1	29	129	0	41	1	9.692286e-01	7	21	0	41	2		0	0	0	0	0	2	1	1	28	126	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TSEN54	283989	broad.mit.edu	37	17	73512857	73512857	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73512857G>A	ENST00000333213.6	+	2	123	c.87G>A	c.(85-87)cgG>cgA	p.R29R	CASKIN2_ENST00000581870.1_5'Flank|TSEN54_ENST00000580013.1_3'UTR|CASKIN2_ENST00000321617.3_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit			13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		CCCGCTCGCGGTCGCAGAAGC	0.771000																								0							SO:0001819	synonymous_variant			ENST00000333213.6	0	1	hg19	CCDS11724.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	1	0	0	7	97	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.811729e-01	7	96	0	12	2								-11.691300	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.850000	0.380000	1.000000	1.000000	0.813583	0.850000	1	5.800000e-01	1
TSEN54	283989	broad.mit.edu	37	17	73517527	73517527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73517527G>A	ENST00000333213.6	+	7	595	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit			13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		GCTTAACCTGGATGCCAGCGT	0.627000																								0							SO:0001583	missense			ENST00000333213.6	1	1	hg19	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979469	0.34942	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.57436	0.4	5.63	3.62	0.41486	.	0.277358	0.40818	N	0.001015	T	0.58235	0.2108	M	0.62723	1.935	0.33845	D	0.631864	D	0.57899	0.981	P	0.51701	0.677	T	0.70317	-0.4905	10	0.51188	T	0.08	-9.0635	11.425	0.50004	0.0682:0.1264:0.8054:0.0	.	187	Q7Z6J9	SEN54_HUMAN	N	86;187	ENSP00000327487:D187N	ENSP00000327487:D187N	D	+	1	0	TSEN54	71029122	1.000000	0.71417	0.985000	0.45067	0.494000	0.33585	3.460000	0.53028	0.723000	0.32274	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	1	0	1	62	279	0	85	1	1	65	117	0	85	2		0	0	0	0	0	2	1	1	61	274	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSEN54	283989	broad.mit.edu	37	17	73518145	73518145	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73518145C>T	ENST00000333213.6	+	8	1019	c.983C>T	c.(982-984)gCt>gTt	p.A328V		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit			13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		GCCAACGTGGCTGGGCGGGAG	0.672000																								0							SO:0001583	missense			ENST00000333213.6	0	1	hg19	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842806	0.32606	.	.	ENSG00000182173	ENST00000333213	T	0.58210	0.35	5.33	3.34	0.38264	.	0.768822	0.12434	N	0.469320	T	0.43809	0.1264	L	0.50333	1.59	0.09310	N	0.999999	B	0.22480	0.07	B	0.18561	0.022	T	0.29882	-0.9997	10	0.12430	T	0.62	1.1449	10.9413	0.47275	0.0:0.8465:0.0:0.1535	.	328	Q7Z6J9	SEN54_HUMAN	V	328	ENSP00000327487:A328V	ENSP00000327487:A328V	A	+	2	0	TSEN54	71029740	0.000000	0.05858	0.043000	0.18650	0.715000	0.41141	-0.025000	0.12413	0.607000	0.29982	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	1	0	1	5	36	0	14	1	9.949420e-01	27	59	0	14	2		0	0	0	0	0	2	1	9.377104e-01	5	35	0	14	2								-11.260710	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.570000	1.000000	1.000000	0.957768	0.990000	1	9.300000e-01	1
LLGL2	3993	broad.mit.edu	37	17	73560573	73560573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73560573G>A	ENST00000392550.3	+	10	1138	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T|LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)			31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		CCTCACAGAGGCAGACCCTGC	0.622000																								0							SO:0001583	missense			ENST00000392550.3	1	1	hg19	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588842	0.46110	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.27256	2.77;2.77;1.68	4.89	4.89	0.63831	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.496878	0.23571	N	0.046747	T	0.11537	0.0281	N	0.08118	0	0.29145	N	0.878746	B;B;B;B;B	0.28128	0.201;0.167;0.001;0.002;0.004	B;B;B;B;B	0.31946	0.138;0.085;0.004;0.007;0.005	T	0.21008	-1.0258	10	0.02654	T	1	-1.1271	10.0042	0.41946	0.0:0.1377:0.7013:0.161	.	330;330;341;341;341	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	T	341;341;341;330	ENSP00000167462:A341T;ENSP00000376333:A341T;ENSP00000364375:A341T	ENSP00000167462:A341T	A	+	1	0	LLGL2	71072168	1.000000	0.71417	0.994000	0.49952	0.110000	0.19582	4.457000	0.60088	2.543000	0.85770	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	1	0	1	58	301	0	61	1	1	353	413	0	61	2		0	0	0	0	0	2	1	1	58	291	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LLGL2	3993	broad.mit.edu	37	17	73566151	73566151	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566151C>A	ENST00000392550.3	+	15	1806	c.1689C>A	c.(1687-1689)cgC>cgA	p.R563R	LLGL2_ENST00000577200.1_Silent_p.R563R|LLGL2_ENST00000167462.5_Silent_p.R563R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)			31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		GGCACGAGCGCCTGGCAGCCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000392550.3	1	1	hg19	CCDS32733.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	1	0	1	26	130	0	30	1	1	61	102	0	30	2		0	0	0	0	0	2	1	9.999999e-01	26	126	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
LLGL2	3993	broad.mit.edu	37	17	73566533	73566533	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566533G>T	ENST00000392550.3	+	16	2096	c.1979G>T	c.(1978-1980)aGc>aTc	p.S660I	LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I|LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)			31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		ATGCGTCGGAGCCGGGTGTCC	0.692000																								0							SO:0001583	missense			ENST00000392550.3	0	1	hg19	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147517	0.37923	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.65364	-0.15;-0.15	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.991;0.999;1.0;1.0;0.999	P;D;D;D;D	0.87578	0.872;0.996;0.998;0.993;0.979	T	0.82030	-0.0659	10	0.62326	D	0.03	-0.551	18.2389	0.89960	0.0:0.0:1.0:0.0	.	287;649;649;660;660	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	I	660;660;649	ENSP00000167462:S660I;ENSP00000376333:S660I	ENSP00000167462:S660I	S	+	2	0	LLGL2	71078128	1.000000	0.71417	0.937000	0.37676	0.141000	0.21300	9.801000	0.99128	2.314000	0.78098	0.549000	0.68633	AGC		TCGA-IB-7651-01A-11D-2154-08	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	1	0	1	10	44	0	14	1	9.999994e-01	65	112	0	14	2		0	0	0	0	0	2	1	9.975686e-01	10	43	0	13	2								-19.628550	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998109	0.990000	1	9.900000e-01	1
ZBTB4	57659	broad.mit.edu	37	17	7366455	7366455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366455G>A	ENST00000311403.4	-	4	2185	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4			36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)			GAGATGCGGCGCTTGACGATG	0.647000																								0							SO:0001583	missense			ENST00000311403.4	0	1	hg19	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338633	0.60963	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.51817	0.69;0.69	4.87	3.86	0.44501	.	0.000000	0.64402	D	0.000001	T	0.64907	0.2641	M	0.69358	2.11	0.48511	D	0.999669	D	0.89917	1.0	D	0.85130	0.997	T	0.66779	-0.5837	10	0.54805	T	0.06	-14.8235	13.619	0.62126	0.0:0.0:0.8449:0.1551	.	616	Q9P1Z0	ZBTB4_HUMAN	C	616	ENSP00000307858:R616C;ENSP00000369973:R616C	ENSP00000307858:R616C	R	-	1	0	ZBTB4	7307179	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.648000	0.37271	2.533000	0.85409	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	1	0	0	16	80	0	9	1	9.999993e-01	29	119	0	9	2		0	0	0	0	0	2	1	9.999524e-01	16	78	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999506	0.990000	1	9.900000e-01	1
ZBTB4	57659	broad.mit.edu	37	17	7367040	7367040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7367040G>A	ENST00000311403.4	-	4	1600	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4			36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)			TTGGCTGCCCGCATGGGGAGC	0.632000																								0							SO:0001583	missense			ENST00000311403.4	1	1	hg19	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370297	0.61624	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04502	3.61;3.61	4.92	2.78	0.32641	.	0.169883	0.38897	N	0.001539	T	0.10551	0.0258	L	0.27053	0.805	0.39854	D	0.973289	D	0.89917	1.0	D	0.79108	0.992	T	0.11616	-1.0580	10	0.87932	D	0	-14.3833	11.3811	0.49757	0.0:0.0:0.6748:0.3252	.	421	Q9P1Z0	ZBTB4_HUMAN	W	421	ENSP00000307858:R421W;ENSP00000369973:R421W	ENSP00000307858:R421W	R	-	1	2	ZBTB4	7307764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.996000	0.40776	1.274000	0.44362	0.456000	0.33151	CGG		TCGA-IB-7651-01A-11D-2154-08	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	1	0	1	139	596	0	150	1	1	15	120	0	150	2		0	0	0	0	0	2	1	1	138	581	0	146	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB4	3691	broad.mit.edu	37	17	73723936	73723936	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73723936G>A	ENST00000200181.3	+	5	656	c.469G>A	c.(469-471)Gct>Act	p.A157T	ITGB4_ENST00000579662.1_Splice_Site_p.A157T|ITGB4_ENST00000339591.3_Splice_Site_p.A157T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Splice_Site_p.A157T|ITGB4_ENST00000449880.2_Splice_Site_p.A157T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4			43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		GCAGAACCTGGGTACGGCAGG	0.617000																								0							SO:0001630	splice_region_variant			ENST00000200181.3	1	0	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799179	0.50208	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97850	-4.57;-4.57;-4.57	5.31	5.31	0.75309	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.77313	2.365	0.80722	D	1	P;P;D;D	0.71674	0.928;0.875;0.998;0.998	P;P;D;D	0.72338	0.672;0.581;0.977;0.977	D	0.99840	1.1061	10	0.87932	D	0	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	157;157;157;157	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	T	73;157;157;157	ENSP00000200181:A157T;ENSP00000344079:A157T;ENSP00000400217:A157T	ENSP00000200181:A157T	A	+	1	0	ITGB4	71235531	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	9.467000	0.97671	2.500000	0.84329	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1	29	136	0	52	1	1	124	56	0	52	2		0	0	0	0	0	2	1	1	29	133	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ITGB4	3691	broad.mit.edu	37	17	73726545	73726545	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73726545C>A	ENST00000200181.3	+	8	1149	c.962C>A	c.(961-963)cCc>cAc	p.P321H	ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4			43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		AACATCATCCCCATCTTTGCT	0.617000																								0							SO:0001583	missense			ENST00000200181.3	1	1	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004601	0.54254	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97688	-4.49;-4.49;-4.49	5.6	5.6	0.85130	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.99433	1.0936	10	0.87932	D	0	.	19.6008	0.95560	0.0:1.0:0.0:0.0	.	321;321;321;321	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	237;321;321;321	ENSP00000200181:P321H;ENSP00000344079:P321H;ENSP00000400217:P321H	ENSP00000200181:P321H	P	+	2	0	ITGB4	71238140	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.673000	0.83973	2.632000	0.89209	0.563000	0.77884	CCC		TCGA-IB-7651-01A-11D-2154-08	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1	76	437	0	82	1	1	249	67	0	82	2		0	0	0	0	0	2	1	1	75	427	0	81	2								-2.444330	0	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB4	3691	broad.mit.edu	37	17	73727036	73727036	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73727036G>T	ENST00000200181.3	+	9	1270	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4			43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		TGCTGGAGGAGGCCTTCAATG	0.617000																								0							SO:0001583	missense			ENST00000200181.3	1	1	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861215	0.32884	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97553	-4.43;-4.43;-4.43	5.42	-3.46	0.04767	Integrin beta subunit, N-terminal (2);	0.679936	0.14303	N	0.328121	D	0.92789	0.7707	N	0.22421	0.69	0.23859	N	0.996646	B;P;P;D	0.55800	0.097;0.929;0.942;0.973	B;B;P;P	0.53401	0.099;0.399;0.634;0.725	D	0.87441	0.2395	10	0.24483	T	0.36	.	3.4322	0.07433	0.3887:0.0992:0.411:0.101	.	361;361;361;361	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	D	277;361;361;361	ENSP00000200181:E361D;ENSP00000344079:E361D;ENSP00000400217:E361D	ENSP00000200181:E361D	E	+	3	2	ITGB4	71238631	0.062000	0.20869	0.993000	0.49108	0.945000	0.59286	-0.468000	0.06656	-0.199000	0.10317	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1	106	446	0	89	1	1	300	72	0	89	2		0	0	0	0	0	2	1	1	104	437	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB4	3691	broad.mit.edu	37	17	73745092	73745092	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73745092G>T	ENST00000200181.3	+	27	3469	c.3282G>T	c.(3280-3282)caG>caT	p.Q1094H	ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4			43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		ACCTGGGCCAGCCCCACTCCA	0.637000																								0							SO:0001583	missense			ENST00000200181.3	1	1	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899867	0.33535	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.27402	1.67;1.67;1.67	5.45	-1.39	0.08997	.	0.230210	0.37348	N	0.002134	T	0.21227	0.0511	N	0.24115	0.695	0.30210	N	0.797787	P;P;P	0.51057	0.941;0.744;0.835	P;B;P	0.50860	0.652;0.252;0.45	T	0.17077	-1.0381	10	0.72032	D	0.01	.	2.7314	0.05228	0.5264:0.1284:0.2149:0.1304	.	1094;1094;1094	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	1094	ENSP00000200181:Q1094H;ENSP00000344079:Q1094H;ENSP00000400217:Q1094H	ENSP00000200181:Q1094H	Q	+	3	2	ITGB4	71256687	0.422000	0.25473	0.998000	0.56505	0.939000	0.58152	-0.305000	0.08188	0.041000	0.15688	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1	22	141	0	23	1	1	66	324	0	23	2		0	0	0	0	0	2	1	9.999991e-01	22	139	0	22	2								-3.326972	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998906	0.990000	1	9.900000e-01	1
ITGB4	3691	broad.mit.edu	37	17	73752585	73752585	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73752585C>A	ENST00000200181.3	+	36	4971	c.4784C>A	c.(4783-4785)tCc>tAc	p.S1595Y	ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4			43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		CCCAACCACTCCTACGTGTTC	0.657000																								0							SO:0001583	missense			ENST00000200181.3	1	1	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153050	0.57259	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.58210	0.35;0.35;0.35	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77981	-0.2383	10	0.87932	D	0	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	1578;1525;1595	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	Y	1595;1578;1578	ENSP00000200181:S1595Y;ENSP00000344079:S1578Y;ENSP00000400217:S1578Y	ENSP00000200181:S1595Y	S	+	2	0	ITGB4	71264180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.590000	0.87494	0.455000	0.32223	TCC		TCGA-IB-7651-01A-11D-2154-08	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	1	0	1	121	629	0	118	1	1	81	401	0	118	2		0	0	0	0	0	2	1	1	118	616	0	116	2								-3.144316	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC13D	201294	broad.mit.edu	37	17	73831747	73831747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73831747G>A	ENST00000207549.4	-	19	2087	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)			29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		GAGCTCATGCGCAGCTGGCAG	0.647000									Familial Hemophagocytic Lymphohistiocytosis															0							SO:0001583	missense	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	ENST00000207549.4	1	1	hg19	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583604	0.13749	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71222	-0.53;-0.55	4.88	2.84	0.33178	Munc13 homology 1 (1);	0.768652	0.12175	N	0.492658	T	0.57725	0.2073	L	0.34521	1.04	0.41761	D	0.98971	B;P	0.47841	0.0;0.901	B;B	0.40329	0.0;0.326	T	0.48433	-0.9036	10	0.38643	T	0.18	-6.1973	8.9429	0.35740	0.1557:0.6371:0.2072:0.0	.	570;570	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	570	ENSP00000207549:R570C;ENSP00000388093:R570C	ENSP00000207549:R570C	R	-	1	0	UNC13D	71343342	0.998000	0.40836	0.958000	0.39756	0.082000	0.17680	0.612000	0.24283	0.398000	0.25338	-0.424000	0.05967	CGC		TCGA-IB-7651-01A-11D-2154-08	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	1	0	1	21	180	0	38	1	9.912624e-01	7	61	0	38	2		0	0	0	0	0	2	1	9.999978e-01	21	176	0	38	2								-20.000000	1	1	121408	5	34	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.810000	1.000000	1.000000	0.985191	0.990000	1	9.900000e-01	1
WBP2	23558	broad.mit.edu	37	17	73844721	73844721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73844721G>A	ENST00000591399.1	-	5	751	c.327C>T	c.(325-327)tcC>tcT	p.S109S	WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000344296.4_Silent_p.S87S|WBP2_ENST00000585462.1_Silent_p.S87S|WBP2_ENST00000590450.1_5'Flank|WBP2_ENST00000254806.3_Silent_p.S109S|WBP2_ENST00000590221.1_Silent_p.S109S			Q969T9	WBP2_HUMAN	WW domain binding protein 2			7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		TCAACTTGTAGGAAGCAGAGC	0.517000											OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000591399.1	1	1	hg19	CCDS11731.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	1	0	1	19	112	0	33	1	1	100	472	0	33	2		0	0	0	0	0	2	1	9.999924e-01	19	109	0	33	2								-20.000000	1	1	121410	1	28	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999113	0.990000	1	9.900000e-01	1
TRIM47	91107	broad.mit.edu	37	17	73871062	73871062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73871062G>A	ENST00000254816.2	-	6	1445	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Silent_p.G235G	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47			22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		GGGCACCCTCGCCCAGCACCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000254816.2	1	1	hg19	CCDS32737.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1	1	0	1	54	253	0	61	1	1	67	124	0	61	2		0	0	0	0	0	2	1	1	54	246	0	61	2								-20.000000	1	1	121410	5	37	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM65	201292	broad.mit.edu	37	17	73888881	73888881	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73888881G>A	ENST00000269383.3	-	2	530	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65			12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		GCTGGCCTTCGGCCTGGGTGG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000269383.3	1	1	hg19	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.465|0.465	-0.887240|-0.887240	0.02511|0.02511	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000543309|ENST00000540128	.|.	.|.	.|.	4.74|4.74	-9.49|-9.49	0.00587|0.00587	.|.	.|.	.|.	.|.	.|.	T|.	0.17534|.	0.0421|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14559|.	-1.0468|.	4|.	.|.	.|.	.|.	.|.	4.94|4.94	0.13960|0.13960	0.5911:0.1913:0.1173:0.1003|0.5911:0.1913:0.1173:0.1003	.|.	.|.	.|.	.|.	L|X	29|147	.|.	.|.	P|R	-|-	2|1	0|2	TRIM65|TRIM65	71400476|71400476	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.938000|-2.938000	0.00684|0.00684	-2.416000|-2.416000	0.00567|0.00567	0.556000|0.556000	0.70494|0.70494	CCG|CGA		TCGA-IB-7651-01A-11D-2154-08	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	1	0	1	32	143	0	45	1	9.991146e-01	6	46	0	45	2		0	0	0	0	0	2	1	1	32	141	0	45	2								-3.304153	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MRPL38	64978	broad.mit.edu	37	17	73895245	73895245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73895245G>A	ENST00000309352.3	-	8	1537	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|RP11-552F3.10_ENST00000587267.1_RNA|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000585475.1_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38			5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		TTACCCAGAAGCTGGTGGAAG	0.592000																								0							SO:0001583	missense			ENST00000309352.3	0	1	hg19	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049424	0.75846	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.23147	1.92;1.92	5.12	5.12	0.69794	.	0.281503	0.32533	N	0.005974	T	0.38957	0.1060	L	0.60455	1.87	0.42239	D	0.991927	D	0.65815	0.995	P	0.59221	0.854	T	0.18178	-1.0345	10	0.52906	T	0.07	-3.2241	8.862	0.35263	0.2108:0.0:0.7892:0.0	.	334	Q96DV4	RM38_HUMAN	F	334;150	ENSP00000308275:L334F;ENSP00000387085:L150F	ENSP00000308275:L334F	L	-	1	0	MRPL38	71406840	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	2.441000	0.44864	2.380000	0.81148	0.511000	0.50034	CTT		TCGA-IB-7651-01A-11D-2154-08	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	1	0	1	9	51	0	12	1	9.999995e-01	81	166	0	12	2		0	0	0	0	0	2	1	9.954347e-01	9	51	0	12	2								-17.078360	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.870000	1.000000	1.000000	0.992767	0.990000	1	9.900000e-01	1
MRPL38	64978	broad.mit.edu	37	17	73897891	73897891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73897891C>T	ENST00000309352.3	-	4	1030	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	MRPL38_ENST00000409963.3_5'UTR|RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000585475.1_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38			5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		ACAAAGGTGGCACCGTGGAAC	0.627000																								0							SO:0001583	missense			ENST00000309352.3	1	1	hg19	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331508	0.81690	.	.	ENSG00000204316	ENST00000309352	T	0.23552	1.9	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63143	-0.6703	10	0.87932	D	0	0.849	19.23	0.93834	0.0:1.0:0.0:0.0	.	165	Q96DV4	RM38_HUMAN	T	165	ENSP00000308275:A165T	ENSP00000308275:A165T	A	-	1	0	MRPL38	71409486	1.000000	0.71417	0.982000	0.44146	0.117000	0.20001	7.349000	0.79376	2.544000	0.85801	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	1	0	1	36	164	0	34	1	1	61	148	0	34	2		0	0	0	0	0	2	1	1	36	160	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FBF1	85302	broad.mit.edu	37	17	73915865	73915865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73915865C>T	ENST00000586717.1	-	19	2253	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	FBF1_ENST00000389570.4_Silent_p.S660S|FBF1_ENST00000319129.5_Silent_p.S659S			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1			4					CCTGGCACTGCGACAGATACC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000586717.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	1	0	1	44	239	0	66	1	6.664925e-01	2	12	0	66	2		0	0	0	0	0	2	1	1	42	237	0	66	2								-19.997350	1	0	120966	1	30	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
EVPL	2125	broad.mit.edu	37	17	74003558	74003558	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003558C>T	ENST00000301607.3	-	22	5981	c.5728G>A	c.(5728-5730)Gtc>Atc	p.V1910I	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin			54					TTCTTGGTGACGGGGTCCTCG	0.652000																								0							SO:0001583	missense			ENST00000301607.3	1	1	hg19	CCDS11737.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.53	2.265785	0.40095	.	.	ENSG00000167880	ENST00000301607	T	0.73258	-0.73	5.48	5.48	0.80851	.	0.125190	0.56097	D	0.000039	T	0.69242	0.3089	N	0.19112	0.55	0.33918	D	0.640524	B;D	0.71674	0.059;0.998	B;P	0.55011	0.029;0.766	T	0.71820	-0.4477	10	0.23302	T	0.38	-58.9386	19.3612	0.94438	0.0:1.0:0.0:0.0	.	1932;1910	B7ZLH8;Q92817	.;EVPL_HUMAN	I	1910	ENSP00000301607:V1910I	ENSP00000301607:V1910I	V	-	1	0	EVPL	71515153	0.682000	0.27624	0.973000	0.42090	0.878000	0.50629	1.257000	0.32932	2.564000	0.86499	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1	65	313	0	69	1	9.971227e-01	19	26	0	69	2		0	0	0	0	0	2	1	1	64	312	0	68	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVPL	2125	broad.mit.edu	37	17	74003780	74003780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003780C>T	ENST00000301607.3	-	22	5759	c.5506G>A	c.(5506-5508)Gac>Aac	p.D1836N	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin			54					CACTTGTTGTCTGTGGTTGTG	0.612000																								0							SO:0001583	missense			ENST00000301607.3	1	1	hg19	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446603	0.63178	.	.	ENSG00000167880	ENST00000301607	T	0.70986	-0.53	5.48	4.51	0.55191	.	0.103125	0.64402	D	0.000005	T	0.78444	0.4284	L	0.50333	1.59	0.38780	D	0.954754	D;B	0.89917	1.0;0.241	D;B	0.75484	0.986;0.178	T	0.78715	-0.2096	10	0.37606	T	0.19	-45.0987	12.4161	0.55494	0.0:0.86:0.0:0.14	.	1858;1836	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1836	ENSP00000301607:D1836N	ENSP00000301607:D1836N	D	-	1	0	EVPL	71515375	0.866000	0.29940	0.651000	0.29564	0.948000	0.59901	1.741000	0.38238	1.306000	0.44926	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1	98	1049	0	222	1	9.787562e-01	13	53	0	222	2		0	0	0	0	0	2	1	1	97	1027	0	221	2								-19.996880	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.830000	1.000000	1.000000	0.972548	0.990000	1	9.200000e-01	1
EVPL	2125	broad.mit.edu	37	17	74005791	74005791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74005791C>A	ENST00000301607.3	-	22	3748	c.3495G>T	c.(3493-3495)aaG>aaT	p.K1165N	EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin			54					GCGTCGCGTTCTTGGTCCTCT	0.632000																								0							SO:0001583	missense			ENST00000301607.3	1	1	hg19	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	3.416	-0.119149	0.06838	.	.	ENSG00000167880	ENST00000301607	T	0.48836	0.8	5.14	3.11	0.35812	.	0.763817	0.12829	N	0.435764	T	0.37972	0.1023	L	0.43152	1.355	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.12156	0.005;0.007	T	0.31336	-0.9947	10	0.51188	T	0.08	-14.3804	6.5517	0.22438	0.0:0.653:0.131:0.216	.	1187;1165	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1165	ENSP00000301607:K1165N	ENSP00000301607:K1165N	K	-	3	2	EVPL	71517386	0.497000	0.26067	0.002000	0.10522	0.011000	0.07611	0.718000	0.25866	0.559000	0.29153	0.485000	0.47835	AAG		TCGA-IB-7651-01A-11D-2154-08	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1	60	250	0	49	1	9.580066e-01	11	13	0	49	2		0	0	0	0	0	2	1	1	59	243	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVPL	2125	broad.mit.edu	37	17	74013961	74013961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74013961C>A	ENST00000301607.3	-	14	1822	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin			54					GCTTCTGGGCCTGTGGGTTGG	0.677000																								0							SO:0001583	missense			ENST00000301607.3	1	1	hg19	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703153	0.30232	.	.	ENSG00000167880	ENST00000301607	T	0.68181	-0.31	4.88	0.285	0.15705	.	0.177195	0.49916	N	0.000121	T	0.50240	0.1604	L	0.51914	1.62	0.34965	D	0.752622	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.40213	-0.9575	10	0.22706	T	0.39	-33.1096	4.0054	0.09598	0.3073:0.4617:0.0:0.231	.	545;523	B7ZLH8;Q92817	.;EVPL_HUMAN	H	523	ENSP00000301607:Q523H	ENSP00000301607:Q523H	Q	-	3	2	EVPL	71525556	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.576000	0.23744	0.584000	0.29591	-0.226000	0.12346	CAG		TCGA-IB-7651-01A-11D-2154-08	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1	43	329	0	62	0	6.052887e-01	1	16	0	62	2		0	0	0	0	0	2	1	1	42	328	0	60	2								-3.318798	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999059	0.990000	1	9.900000e-01	1
EVPL	2125	broad.mit.edu	37	17	74017770	74017770	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017770C>T	ENST00000301607.3	-	8	1153	c.900G>A	c.(898-900)gcG>gcA	p.A300A	EVPL_ENST00000586740.1_Silent_p.A300A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin			54					TGGGCCCCACCGCGGGGTGCC	0.726000																								0							SO:0001819	synonymous_variant			ENST00000301607.3	1	1	hg19	CCDS11737.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	0	29	95	0	18	1	9.258536e-01	5	12	0	18	2		0	0	0	0	0	2	1	1	28	94	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVPL	2125	broad.mit.edu	37	17	74017962	74017962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017962G>A	ENST00000301607.3	-	7	1046	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	EVPL_ENST00000586740.1_Missense_Mutation_p.R265W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin			54					TACTCCCGCCGCACGCCCGCA	0.756000																								0							SO:0001583	missense			ENST00000301607.3	0	1	hg19	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023501	0.75390	.	.	ENSG00000167880	ENST00000301607	T	0.36340	1.26	4.48	1.06	0.20224	.	0.066524	0.64402	D	0.000011	T	0.55545	0.1927	M	0.72894	2.215	0.47737	D	0.999509	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.952	T	0.58346	-0.7652	10	0.87932	D	0	-28.1071	13.1488	0.59478	0.0:0.0:0.5953:0.4047	.	265;265	B7ZLH8;Q92817	.;EVPL_HUMAN	W	265	ENSP00000301607:R265W	ENSP00000301607:R265W	R	-	1	2	EVPL	71529557	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	4.253000	0.58791	0.035000	0.15519	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	0	13	40	0	8	1	5.552602e-01	4	3	0	8	2		0	0	0	0	0	2	1	9.997264e-01	12	40	0	8	2								-20.000000	1	1	115384	1	21	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999878	0.990000	1	9.900000e-01	1
SRP68	6730	broad.mit.edu	37	17	74056448	74056448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74056448G>A	ENST00000307877.2	-	7	939	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	SRP68_ENST00000539137.1_Missense_Mutation_p.L222F|SRP68_ENST00000355113.5_Missense_Mutation_p.L159F	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa			23					ATCTGCATGAGTTCATTGATG	0.418000																								0							SO:0001583	missense			ENST00000307877.2	1	1	hg19	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710345	0.68730	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.23	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.982	T	0.46884	-0.9159	10	0.42905	T	0.14	-17.7999	9.3472	0.38115	0.2081:0.0:0.7919:0.0	.	222;260	G3V1U4;Q9UHB9	.;SRP68_HUMAN	F	222;260;260;159	ENSP00000446136:L222F;ENSP00000312066:L260F;ENSP00000347233:L159F	ENSP00000312066:L260F	L	-	1	0	SRP68	71568043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.475000	0.45162	2.601000	0.87937	0.467000	0.42956	CTC		TCGA-IB-7651-01A-11D-2154-08	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	1	0	1	33	193	0	50	1	1	64	214	0	50	2		0	0	0	0	0	2	1	1	33	189	0	49	2								-20.000000	1	1	121412	1	26	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
SRP68	6730	broad.mit.edu	37	17	74057202	74057202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74057202G>T	ENST00000307877.2	-	6	904	c.743C>A	c.(742-744)gCa>gAa	p.A248E	SRP68_ENST00000539137.1_Missense_Mutation_p.A210E|SRP68_ENST00000355113.5_Missense_Mutation_p.A147E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa			23					AATATTATATGCACAATAGCG	0.443000																								0							SO:0001583	missense			ENST00000307877.2	1	1	hg19	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566004	0.86439	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.36	4.37	0.52481	Tetratricopeptide-like helical (1);	0.045681	0.85682	N	0.000000	T	0.52901	0.1763	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52117	-0.8618	10	0.35671	T	0.21	-10.5003	15.5106	0.75779	0.0:0.0:0.8604:0.1396	.	210;248	G3V1U4;Q9UHB9	.;SRP68_HUMAN	E	210;248;248;248;147	ENSP00000446136:A210E;ENSP00000312066:A248E;ENSP00000347233:A147E	ENSP00000307756:A248E	A	-	2	0	SRP68	71568797	1.000000	0.71417	0.852000	0.33557	0.950000	0.60333	7.903000	0.87398	1.361000	0.45981	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	1	0	1	127	625	0	160	1	1	70	202	0	160	2		0	0	0	0	0	2	1	1	125	619	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR2A	5430	broad.mit.edu	37	17	7405894	7405894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7405894C>T	ENST00000322644.6	+	16	3029	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa			50		Prostate(122;0.173)			AAGTACGACGCGACTGTGCGG	0.577000																								0							SO:0001583	missense			ENST00000322644.6	1	1	hg19	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525135	0.44969	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.67698	-0.28	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 5 (1);	0.129663	0.49916	D	0.000131	T	0.66336	0.2779	L	0.43923	1.385	0.80722	D	1	P	0.38642	0.641	B	0.41666	0.363	T	0.69072	-0.5242	10	0.87932	D	0	-8.9664	18.8608	0.92271	0.0:1.0:0.0:0.0	.	877	P24928	RPB1_HUMAN	V	833;877	ENSP00000314949:A877V	ENSP00000314949:A877V	A	+	2	0	SLC35G6	7346618	1.000000	0.71417	0.183000	0.23137	0.125000	0.20455	4.287000	0.59001	2.761000	0.94854	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	0	0	0	17	391	0	57	1	9.857404e-01	5	156	0	57	2		0	0	0	0	0	2	1	9.999611e-01	17	383	0	56	2								-17.151490	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.520000	0.300000	1.000000	0.490000	0.566748	0.520000	0	4.000000e-01	7.100000e-01
SRP68	6730	broad.mit.edu	37	17	74060107	74060107	+	Missense_Mutation	SNP	G	G	A	rs144739272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060107G>A	ENST00000307877.2	-	4	672	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SRP68_ENST00000539137.1_Missense_Mutation_p.R133C|SRP68_ENST00000355113.5_Missense_Mutation_p.R70C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa			23					TCACACAAGCGTTCCAATTCC	0.468000																								0							SO:0001583	missense			ENST00000307877.2	1	1	hg19	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449076	0.84101	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.094954	0.64402	D	0.000002	T	0.67306	0.2879	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.56700	0.736;0.804	T	0.68573	-0.5373	9	0.62326	D	0.03	-14.7833	15.7708	0.78167	0.0:0.0:0.8555:0.1445	.	133;171	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	133;171;171;171;70	.	ENSP00000307756:R171C	R	-	1	0	SRP68	71571702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.615000	0.61190	2.753000	0.94483	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	0	0	1	99	457	1	108	1	1	65	200	1	108	10		0	0	0	0	0	2	1	1	96	452	1	107	18								-20.000000	1	0	121412	7	43	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRP68	6730	broad.mit.edu	37	17	74060140	74060140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060140G>A	ENST00000307877.2	-	4	639	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	SRP68_ENST00000539137.1_Missense_Mutation_p.R122C|SRP68_ENST00000355113.5_Missense_Mutation_p.R59C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa			23					ACGGCTTTGCGTAGGCGAGAT	0.502000																								0							SO:0001583	missense			ENST00000307877.2	1	1	hg19	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495567	0.96355	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.83768	0.0218	9	0.87932	D	0	-20.1451	20.1099	0.97909	0.0:0.0:1.0:0.0	.	122;160	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	122;160;160;160;59	.	ENSP00000307756:R160C	R	-	1	0	SRP68	71571735	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	9.756000	0.98918	2.753000	0.94483	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	1	0	1	125	523	0	130	1	1	85	218	0	130	2		0	0	0	0	0	2	1	1	122	512	0	128	2								-20.000000	1	0	121412	1	36	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR2A	5430	broad.mit.edu	37	17	7406566	7406566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7406566G>T	ENST00000322644.6	+	17	3282	c.2883G>T	c.(2881-2883)gaG>gaT	p.E961D		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa			50		Prostate(122;0.173)			GGATGCGGGAGGATCGGGAGG	0.612000																								0							SO:0001583	missense			ENST00000322644.6	1	1	hg19	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536290	0.45176	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68025	-0.3	5.25	4.27	0.50696	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	N	0.25992	0.78	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.50591	-0.8810	10	0.40728	T	0.16	-15.1705	12.3295	0.55031	0.0844:0.0:0.9156:0.0	.	961	P24928	RPB1_HUMAN	D	917;961	ENSP00000314949:E961D	ENSP00000314949:E961D	E	+	3	2	SLC35G6	7347290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.610000	0.67668	1.557000	0.49525	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	1	0	1	50	232	0	60	1	1	63	182	0	60	2		0	0	0	0	0	2	1	1	49	225	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALR2	8811	broad.mit.edu	37	17	74073063	74073063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74073063C>A	ENST00000329003.3	+	2	805	c.715C>A	c.(715-717)Ctc>Atc	p.L239I	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2			8					ACGCATGATCCTCATCGTGGC	0.701000																								0							SO:0001583	missense			ENST00000329003.3	1	1	hg19	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650894	0.14516	.	.	ENSG00000182687	ENST00000329003	T	0.38401	1.14	4.85	-6.75	0.01738	GPCR, rhodopsin-like superfamily (1);	0.866516	0.09810	N	0.752895	T	0.14743	0.0356	N	0.10685	0.025	0.25763	N	0.98493	B	0.06786	0.001	B	0.12156	0.007	T	0.34825	-0.9813	10	0.17832	T	0.49	.	10.2836	0.43554	0.6392:0.1143:0.2464:0.0	.	239	O43603	GALR2_HUMAN	I	239	ENSP00000329684:L239I	ENSP00000329684:L239I	L	+	1	0	GALR2	71584658	0.363000	0.24989	0.113000	0.21522	0.948000	0.59901	-0.127000	0.10547	-1.413000	0.02027	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1	1	0	1	36	162	0	38	0	3.497512e-02	1	1	0	38	2		0	0	0	0	0	2	1	1	35	155	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
EXOC7	23265	broad.mit.edu	37	17	74090663	74090663	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74090663C>T	ENST00000335146.7	-	6	694		c.e6-1		EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000607838.1_Splice_Site			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7			14			LUSC - Lung squamous cell carcinoma(166;0.187)		TTCATGAAATCTGAGGAGACA	0.527000																								0							SO:0001630	splice_region_variant			ENST00000335146.7	1	1	hg19	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274432	0.59649	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.84	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5218	0.61572	0.0:0.8435:0.1565:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC7	71602258	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	7.284000	0.78650	1.240000	0.43803	-0.312000	0.09012	.		TCGA-IB-7651-01A-11D-2154-08	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	1	0	1	80	358	0	77	1	1.576143e-01	2	2	0	77	2		0	0	0	0	0	2	1	1	78	349	0	76	2								-3.314817	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXJ1	2302	broad.mit.edu	37	17	74133831	74133831	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74133831C>A	ENST00000322957.6	-	3	1223	c.869G>T	c.(868-870)aGc>aTc	p.S290I	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1			4			LUSC - Lung squamous cell carcinoma(166;0.187)		CAGCAGGGTGCTGGGGGGCCG	0.716000																								0							SO:0001583	missense			ENST00000322957.6	0	1	hg19	CCDS32739.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095997	0.56075	.	.	ENSG00000129654	ENST00000322957	D	0.94613	-3.47	4.96	3.97	0.46021	.	0.075688	0.85682	D	0.000000	D	0.94056	0.8095	M	0.63843	1.955	0.58432	D	0.999999	D	0.54207	0.965	P	0.50537	0.643	D	0.92911	0.6347	10	0.52906	T	0.07	.	10.4846	0.44713	0.0:0.7901:0.1345:0.0755	.	290	Q92949	FOXJ1_HUMAN	I	290	ENSP00000323880:S290I	ENSP00000323880:S290I	S	-	2	0	FOXJ1	71645426	0.998000	0.40836	0.999000	0.59377	0.478000	0.33099	1.148000	0.31614	1.044000	0.40200	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	0	0	0	5	182	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	9.366180e-01	5	180	0	25	2								-7.012228	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.360000	0.130000	1.000000	0.310000	0.423841	0.360000	0	2.200000e-01	5.900000e-01
RNF157	114804	broad.mit.edu	37	17	74154560	74154560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74154560C>T	ENST00000269391.6	-	13	1459	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157			25			LUSC - Lung squamous cell carcinoma(166;0.187)		TCATGCAGCACGGAAGAGTTT	0.502000													GBM(186;507 2120 27388 27773 52994)											0							SO:0001583	missense			ENST00000269391.6	1	1	hg19	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702764	0.30232	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.27402	1.67;1.76	5.7	4.54	0.55810	.	0.121727	0.53938	D	0.000050	T	0.17238	0.0414	N	0.25485	0.75	0.80722	D	1	P;P	0.38978	0.652;0.581	B;B	0.26517	0.07;0.048	T	0.03619	-1.1019	10	0.41790	T	0.15	-6.5956	11.1046	0.48194	0.0:0.8707:0.0:0.1293	.	443;443	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	443	ENSP00000269391:V443M;ENSP00000321837:V443M	ENSP00000269391:V443M	V	-	1	0	RNF157	71666155	0.948000	0.32251	0.842000	0.33263	0.335000	0.28730	1.991000	0.40727	2.670000	0.90874	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	1	0	0	40	274	0	90	1	4.691811e-01	4	8	0	90	2		0	0	0	0	0	2	1	1	40	267	0	87	2								-3.318985	1	1	121412	18	45	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999773	0.990000	1	9.900000e-01	1
RNF157	114804	broad.mit.edu	37	17	74169839	74169839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169839G>A	ENST00000269391.6	-	3	372	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RNF157_ENST00000319945.6_Silent_p.P80P	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157			25			LUSC - Lung squamous cell carcinoma(166;0.187)		GAGTCTTCACGGGTTCTTGGG	0.537000													GBM(186;507 2120 27388 27773 52994)											0							SO:0001819	synonymous_variant			ENST00000269391.6	1	1	hg19	CCDS32740.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	1	0	1	19	76	0	27	1	9.295254e-01	6	15	0	27	2		0	0	0	0	0	2	1	9.999927e-01	19	71	0	25	2								-3.656616	1	0	121402	6	37	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
RNF157	114804	broad.mit.edu	37	17	74169858	74169858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169858G>A	ENST00000269391.6	-	3	353	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157			25			LUSC - Lung squamous cell carcinoma(166;0.187)		GGGAGGTGGGGCGGCGTAAGG	0.527000													GBM(186;507 2120 27388 27773 52994)											0							SO:0001583	missense			ENST00000269391.6	1	1	hg19	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264789	0.95399	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.23552	1.9;1.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.786	P;P	0.59115	0.852;0.621	T	0.10405	-1.0631	10	0.41790	T	0.15	-25.5121	18.3016	0.90165	0.0:0.0:1.0:0.0	.	74;74	Q96PX1-2;Q96PX1	.;RN157_HUMAN	V	74;74;36	ENSP00000269391:A74V;ENSP00000321837:A74V	ENSP00000269391:A74V	A	-	2	0	RNF157	71681453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.699000	0.98703	2.389000	0.81357	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	1	0	1	13	85	0	23	1	6.564832e-01	7	9	0	23	2		0	0	0	0	0	2	1	9.995162e-01	12	81	0	23	2								-19.981010	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.900000	1.000000	1.000000	0.994089	0.990000	1	9.900000e-01	1
POLR2A	5430	broad.mit.edu	37	17	7417442	7417442	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7417442C>A	ENST00000322644.6	+	29	6258	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa			50		Prostate(122;0.173)			CCAGCCCCACCTACAGTCTCA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000322644.6	1	1	hg19	CCDS32548.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	0	0	0	13	263	0	74	1	9.999411e-01	17	349	0	74	2		0	0	0	0	0	2	1	9.994074e-01	12	251	0	74	2								-3.337319	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.590000	0.320000	1.000000	0.550000	0.631286	0.590000	0	4.400000e-01	8.400000e-01
QRICH2	84074	broad.mit.edu	37	17	74276157	74276157	+	Missense_Mutation	SNP	G	G	A	rs146485823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74276157G>A	ENST00000262765.5	-	12	4386	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	p.R1403C(1)		62					AGTGGGGGGCGCTCCCTGAGC	0.682000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262765.5	1	0	hg19	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963400	0.34659	0.002048	0.002212	ENSG00000129646	ENST00000262765	T	0.09911	2.93	5.59	5.59	0.84812	.	.	.	.	.	T	0.24122	0.0584	M	0.62723	1.935	0.37858	D	0.929631	D	0.71674	0.998	P	0.55667	0.781	T	0.01195	-1.1422	9	0.42905	T	0.14	-19.6363	15.1347	0.72555	0.0:0.0:0.8581:0.1419	.	1403	Q9H0J4	QRIC2_HUMAN	C	1403	ENSP00000262765:R1403C	ENSP00000262765:R1403C	R	-	1	0	QRICH2	71787752	0.001000	0.12720	0.892000	0.35008	0.018000	0.09664	0.765000	0.26546	2.635000	0.89317	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	1	0	1	83	378	0	84	0	3.323527e-02	0	2	0	84	2		0	0	0	0	0	2	1	1	81	372	0	83	2								-2.912200	1	1	121376	249	55	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QRICH2	84074	broad.mit.edu	37	17	74289427	74289427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289427C>T	ENST00000262765.5	-	4	1062	c.883G>A	c.(883-885)Gac>Aac	p.D295N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2			62					CCATGTTGGTCTGTGCTAGGT	0.498000																								0							SO:0001583	missense			ENST00000262765.5	1	1	hg19	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710551	0.30322	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.14893	2.47	3.55	2.55	0.30701	.	.	.	.	.	T	0.25975	0.0633	L	0.52364	1.645	0.09310	N	1	D;P	0.63880	0.993;0.541	P;B	0.55391	0.775;0.098	T	0.08953	-1.0697	9	0.27082	T	0.32	-6.2065	10.9542	0.47347	0.0:0.8079:0.1921:0.0	.	295;295	B5MD94;Q9H0J4	.;QRIC2_HUMAN	N	295	ENSP00000262765:D295N	ENSP00000262765:D295N	D	-	1	0	QRICH2	71801022	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.136000	0.15974	1.042000	0.40150	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	1	0	1	82	404	0	112	0	7.751325e-02	1	2	0	112	2		0	0	0	0	0	2	1	1	80	400	0	112	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QRICH2	84074	broad.mit.edu	37	17	74289861	74289861	+	Missense_Mutation	SNP	G	G	A	rs141784144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289861G>A	ENST00000262765.5	-	4	628	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2			62					ACGGGCCCTCGGCTGCTGCTG	0.552000																								0							SO:0001583	missense			ENST00000262765.5	1	1	hg19	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447588	0.12223	4.54E-4	0.0	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08546	3.08	3.23	2.25	0.28309	.	.	.	.	.	T	0.06735	0.0172	L	0.47190	1.495	0.22858	N	0.998644	B;B	0.24882	0.113;0.059	B;B	0.16722	0.016;0.005	T	0.41431	-0.9509	9	0.11485	T	0.65	-0.8082	6.4366	0.21827	0.1354:0.0:0.8646:0.0	.	150;150	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	150	ENSP00000262765:P150L	ENSP00000262765:P150L	P	-	2	0	QRICH2	71801456	0.001000	0.12720	0.056000	0.19401	0.031000	0.12232	0.176000	0.16782	0.930000	0.37217	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	1	0	1	76	289	0	51	0	4.447044e-02	0	2	0	51	2		0	0	0	0	0	2	1	1	77	282	0	49	2								-3.801169	1	1	121412	2	35	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPSAP1	5635	broad.mit.edu	37	17	74308979	74308979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74308979C>T	ENST00000446526.3	-	9	1416	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1			17					CTCAATCAGGCGAGGGGCCTC	0.498000																								0							SO:0001583	missense			ENST00000446526.3	1	1	hg19	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908919	0.92107	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.73681	-0.77;-0.77;-0.77	5.83	3.8	0.43715	.	0.048040	0.85682	D	0.000000	D	0.82706	0.5095	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.63113	0.911;0.84	T	0.83303	-0.0027	10	0.87932	D	0	.	10.6537	0.45663	0.1332:0.7988:0.0:0.068	.	295;324	Q14558;Q14558-2	KPRA_HUMAN;.	H	324;221;221	ENSP00000414624:R324H;ENSP00000314973:R221H;ENSP00000392838:R221H	ENSP00000314973:R221H	R	-	2	0	PRPSAP1	71820574	1.000000	0.71417	0.977000	0.42913	0.878000	0.50629	4.819000	0.62664	0.771000	0.33359	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	1	0	1	73	374	0	92	1	9.999998e-01	32	82	0	92	2		0	0	0	0	0	2	1	1	71	370	0	91	2								-20.000000	1	1	121412	2	31	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPSAP1	5635	broad.mit.edu	37	17	74324894	74324894	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74324894C>A	ENST00000446526.3	-	7	1130	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1			17					TGAGCTTCCCCGTGAATGACG	0.547000																								0							SO:0001583	missense			ENST00000446526.3	1	1	hg19	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	34	5.358148	0.95854	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93677	0.6995	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	200;229	Q14558;Q14558-2	KPRA_HUMAN;.	W	229;126;126;126	ENSP00000414624:G229W;ENSP00000314973:G126W;ENSP00000392838:G126W;ENSP00000387494:G126W	ENSP00000314973:G126W	G	-	1	0	PRPSAP1	71836489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	1	0	1	39	169	0	53	1	1	43	120	0	53	2		0	0	0	0	0	2	1	1	38	168	0	53	2								-3.154296	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPHK1	8877	broad.mit.edu	37	17	74383248	74383248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74383248C>T	ENST00000545180.1	+	8	1545	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1			11				Fingolimod(DB08868)	GGAGCCAGTGCCCTCTCACTG	0.627000													GBM(90;966 1307 27369 33775 44498)											0							SO:0001583	missense			ENST00000545180.1	1	1	hg19	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601439	0.87055	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.28255	1.7;1.62;1.7	5.08	5.08	0.68730	.	0.054040	0.85682	D	0.000000	T	0.45816	0.1361	L	0.43646	1.37	0.58432	D	0.999999	P;P;D	0.71674	0.537;0.942;0.998	B;P;P	0.61003	0.237;0.562;0.882	T	0.30238	-0.9985	10	0.41790	T	0.15	-10.889	18.4809	0.90811	0.0:1.0:0.0:0.0	.	332;260;246	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	S	246;332;246;245	ENSP00000440970:P246S;ENSP00000313681:P332S;ENSP00000376285:P246S	ENSP00000313681:P332S	P	+	1	0	SPHK1	71894843	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.543000	0.60684	2.346000	0.79739	0.563000	0.77884	CCC		TCGA-IB-7651-01A-11D-2154-08	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	1	0	1	17	114	0	33	1	9.999923e-01	17	131	0	33	2		0	0	0	0	0	2	1	9.999732e-01	15	114	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.950000	1.000000	1.000000	0.996450	0.990000	1	9.900000e-01	1
UBE2O	63893	broad.mit.edu	37	17	74392554	74392554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74392554C>T	ENST00000319380.7	-	14	2528	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O			36					TTGAGGCTCTCCAGGATCTTG	0.607000																								0							SO:0001583	missense			ENST00000319380.7	1	1	hg19	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055298	0.93793	.	.	ENSG00000175931	ENST00000319380	T	0.81247	-1.47	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.82949	0.5148	L	0.27053	0.805	0.58432	D	0.999997	D	0.63880	0.993	D	0.68192	0.956	T	0.82697	-0.0329	10	0.34782	T	0.22	.	17.5355	0.87829	0.0:1.0:0.0:0.0	.	822	Q9C0C9	UBE2O_HUMAN	K	822	ENSP00000323687:E822K	ENSP00000323687:E822K	E	-	1	0	UBE2O	71904149	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.790000	0.69038	2.206000	0.71126	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	0	0	0	46	1327	0	257	1	4.435445e-01	2	42	0	257	2		0	0	0	0	0	2	1	1	47	1304	0	256	2								-2.814428	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.400000	0.290000	1.000000	0.400000	0.457451	0.400000	0	3.400000e-01	4.900000e-01
ST6GALNAC2	10610	broad.mit.edu	37	17	74566667	74566667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74566667C>A	ENST00000225276.5	-	6	1072	c.753G>T	c.(751-753)gaG>gaT	p.E251D	RP11-666A8.9_ENST00000588104.1_RNA|ST6GALNAC2_ENST00000586520.1_5'Flank	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2			11					TATCTAGGCCCTCAGGGACAG	0.577000																								0							SO:0001583	missense			ENST00000225276.5	0	1	hg19	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236109	0.39498	.	.	ENSG00000070731	ENST00000225276	T	0.32753	1.44	5.33	-4.12	0.03916	.	0.608321	0.17340	N	0.177778	T	0.21550	0.0519	L	0.49455	1.56	0.19575	N	0.999968	B	0.23990	0.095	B	0.30105	0.111	T	0.21793	-1.0235	10	0.31617	T	0.26	-21.5136	5.619	0.17448	0.2208:0.2779:0.0:0.5014	.	251	Q9UJ37	SIA7B_HUMAN	D	251	ENSP00000225276:E251D	ENSP00000225276:E251D	E	-	3	2	ST6GALNAC2	72078262	0.002000	0.14202	0.000000	0.03702	0.811000	0.45836	-0.624000	0.05540	-0.528000	0.06366	-0.339000	0.08088	GAG		TCGA-IB-7651-01A-11D-2154-08	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	0	0	0	7	77	0	26	1	4.907886e-01	3	15	0	26	2		0	0	0	0	0	2	1	9.786983e-01	7	73	0	25	2								-12.078910	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.470000	1.000000	1.000000	0.895489	0.990000	1	7.100000e-01	1
ST6GALNAC2	10610	broad.mit.edu	37	17	74574856	74574856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74574856C>T	ENST00000225276.5	-	2	487	c.168G>A	c.(166-168)tcG>tcA	p.S56S	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2			11					TCCAAGAATTCGATGCCTTGG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000225276.5	1	1	hg19	CCDS11747.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	0	0	1	50	250	0	54	1	9.330991e-01	7	18	0	54	2		0	0	0	0	0	2	1	1	50	247	0	54	2								-20.000000	1	1	121412	2	38	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFSF12	8742	broad.mit.edu	37	17	7460175	7460175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7460175G>A	ENST00000293825.6	+	6	717	c.454G>A	c.(454-456)Gag>Aag	p.E152K	TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000380535.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.E152K|TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12			11		Prostate(122;0.157)			CCAGATCGGGGAGTTTATAGT	0.582000																								0							SO:0001583	missense			ENST00000293825.6	1	0	hg19	CCDS11109.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136305	0.77662	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D;D	0.94687	-3.49;-3.49;-3.49	4.71	2.69	0.31865	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.688639	0.12808	N	0.437389	D	0.88089	0.6343	N	0.20685	0.6	0.28031	N	0.934134	B;B	0.21071	0.001;0.051	B;B	0.19946	0.003;0.027	T	0.79916	-0.1601	10	0.46703	T	0.11	-0.4336	7.5403	0.27733	0.0933:0.1773:0.7294:0.0	.	152;152	Q8IZK7;O43508	.;TNF12_HUMAN	K	152	ENSP00000293825:E152K;ENSP00000451451:E152K;ENSP00000293826:E152K	ENSP00000293825:E152K	E	+	1	0	TNFSF12-TNFSF13;TNFSF12	7400899	0.997000	0.39634	0.944000	0.38274	0.676000	0.39594	1.110000	0.31147	0.529000	0.28599	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	1	0	1	23	133	0	28	1	1	19	222	0	28	2		0	0	0	0	0	2	1	9.999996e-01	23	131	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999688	0.990000	1	9.900000e-01	1
ST6GALNAC1	55808	broad.mit.edu	37	17	74621580	74621580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74621580G>A	ENST00000156626.7	-	9	1834	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1			22					AGCGCTCATGGCCCTCAGTGA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000156626.7	1	1	hg19	CCDS11748.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	1	0	1	45	205	0	61	1	1	79	66	0	61	2		0	0	0	0	0	2	1	1	45	199	0	60	2								-3.190017	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFSF13	8741	broad.mit.edu	37	17	7463164	7463164	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463164G>T	ENST00000338784.4	+	3	782	c.339G>T	c.(337-339)aaG>aaT	p.K113N	TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000380535.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193N|TNFSF12_ENST00000557233.1_Splice_Site_p.K193N|TNFSF13_ENST00000349228.4_Intron|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396545.4_Splice_Site_p.K113N|SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396542.1_Intron	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13			5		Prostate(122;0.157)			TCTCCTCAGAGCAGCACTCTG	0.562000											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000338784.4	0	1	hg19	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619682	0.28801	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000436057;ENST00000338784;ENST00000396545	D;D;T;D;D	0.97620	-4.46;-4.46;1.42;-3.86;-3.86	4.17	3.2	0.36748	.	0.967335	0.08562	N	0.927345	D	0.96562	0.8878	L	0.60455	1.87	0.80722	D	1	P;P;D	0.57257	0.501;0.634;0.979	B;B;P	0.54759	0.261;0.167;0.76	D	0.91970	0.5586	10	0.18276	T	0.48	.	8.0311	0.30465	0.1132:0.0:0.8868:0.0	.	113;113;193	O75888;O75888-3;Q8IZK7	TNF13_HUMAN;.;.	N	193;193;96;113;113	ENSP00000451451:K193N;ENSP00000293826:K193N;ENSP00000410094:K96N;ENSP00000343505:K113N;ENSP00000379794:K113N	ENSP00000293826:K193N	K	+	3	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7403888	0.963000	0.33076	0.981000	0.43875	0.104000	0.19210	1.446000	0.35090	1.102000	0.41551	0.462000	0.41574	AAG		TCGA-IB-7651-01A-11D-2154-08	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	0	0	0	14	462	0	98	1	9.980109e-01	5	338	0	98	2		0	0	0	0	0	2	1	9.997225e-01	14	452	0	97	2								-3.653328	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.370000	0.200000	1.000000	0.350000	0.435377	0.370000	0	2.700000e-01	5.200000e-01
TNFSF13	8741	broad.mit.edu	37	17	7463427	7463427	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463427G>T	ENST00000338784.4	+	4	890	c.447G>T	c.(445-447)caG>caT	p.Q149H	TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|TNFSF13_ENST00000349228.4_Missense_Mutation_p.Q133H|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13			5		Prostate(122;0.157)			GAGGCCTACAGGCCCAAGGAT	0.552000											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000338784.4	0	1	hg19	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761740	0.31228	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;D;D;T;T;D;D;D;D	0.94758	-3.51;-3.51;-3.51;1.42;1.4;-3.51;-3.51;-3.51;-3.51	5.15	2.77	0.32553	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.313785	0.36167	N	0.002755	D	0.93096	0.7802	L	0.39898	1.24	0.31543	N	0.659642	P;P;P;P;P;P	0.51147	0.808;0.808;0.606;0.808;0.883;0.942	P;P;P;P;P;P	0.54312	0.567;0.567;0.526;0.748;0.632;0.692	D	0.91391	0.5135	10	0.40728	T	0.16	-9.5232	10.0629	0.42286	0.1955:0.0:0.8045:0.0	.	121;122;133;149;149;229	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3;Q8IZK7	.;.;.;TNF13_HUMAN;.;.	H	229;229;104;116;132;133;149;121;149	ENSP00000451451:Q229H;ENSP00000293826:Q229H;ENSP00000379792:Q104H;ENSP00000390771:Q116H;ENSP00000410094:Q132H;ENSP00000314455:Q133H;ENSP00000343505:Q149H;ENSP00000369908:Q121H;ENSP00000379794:Q149H	ENSP00000293826:Q229H	Q	+	3	2	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7404151	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	1.762000	0.38451	1.163000	0.42636	-0.291000	0.09656	CAG		TCGA-IB-7651-01A-11D-2154-08	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	0	0	0	20	607	0	123	1	9.997575e-01	8	396	0	123	2		0	0	0	0	0	2	1	9.999944e-01	19	598	0	123	2								-3.216485	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.390000	0.240000	1.000000	0.380000	0.457363	0.390000	0	3.100000e-01	5.300000e-01
SENP3	26168	broad.mit.edu	37	17	7468084	7468084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7468084G>T	ENST00000429205.2	+	3	907	c.858G>T	c.(856-858)caG>caT	p.Q286H	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Missense_Mutation_p.Q286H|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3			2		Prostate(122;0.157)			AGCTTTTTCAGGGCTCAGATT	0.617000																								0							SO:0001583	missense			ENST00000429205.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.72	2.319953	0.41096	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.36520	1.25;1.25	5.98	2.42	0.29668	.	0.117651	0.38778	N	0.001579	T	0.19287	0.0463	N	0.14661	0.345	0.27963	N	0.936695	B	0.27732	0.187	B	0.30855	0.121	T	0.11717	-1.0576	10	0.33940	T	0.23	-4.314	6.2244	0.20700	0.1757:0.0:0.6714:0.1528	.	286	Q9H4L4	SENP3_HUMAN	H	286	ENSP00000314029:Q286H;ENSP00000403712:Q286H	ENSP00000314029:Q286H	Q	+	3	2	SENP3	7408808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.579000	0.23788	0.840000	0.34995	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	9	273	0	46	1	9.779449e-01	13	190	0	46	2		0	0	0	0	0	2	1	9.942382e-01	9	271	0	46	2								-3.104414	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.410000	0.190000	1.000000	0.380000	0.473315	0.410000	0	2.800000e-01	6.200000e-01
MFSD11	79157	broad.mit.edu	37	17	74771152	74771152	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74771152G>T	ENST00000588460.1	+	11	2990	c.948G>T	c.(946-948)ctG>ctT	p.L316L	MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000336509.4_Silent_p.L316L|MFSD11_ENST00000586622.1_Silent_p.L316L|MFSD11_ENST00000590070.1_3'UTR	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11			17					TGGGCATCCTGGTGCACTTCA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000588460.1	1	1	hg19	CCDS11750.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	1	0	1	173	673	0	159	1	9.999780e-01	12	49	0	159	2		0	0	0	0	0	2	1	1	170	662	0	159	2								-3.365101	1	1	121412	1	32	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGAT5B	146664	broad.mit.edu	37	17	74944060	74944060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74944060C>T	ENST00000569840.2	+	17	2646	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V|RP11-87G24.3_ENST00000564292.1_RNA	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B			29					GCCCTGCGGGCCTGGCTGGCC	0.701000																								0							SO:0001583	missense			ENST00000569840.2	1	1	hg19	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	C	3.394	-0.123698	0.06795	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.38560	1.14;1.13	4.66	3.66	0.41972	.	0.238298	0.34411	N	0.003988	T	0.10508	0.0257	N	0.01048	-1.04	0.33707	D	0.615329	B;B;B	0.24823	0.018;0.01;0.112	B;B;B	0.22601	0.011;0.007;0.04	T	0.33954	-0.9848	10	0.02654	T	1	-28.8763	4.132	0.10154	0.0:0.4802:0.3008:0.219	.	96;700;689	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	V	689;700	ENSP00000301618:A689V;ENSP00000391227:A700V	ENSP00000301618:A689V	A	+	2	0	MGAT5B	72455655	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	1.601000	0.36773	2.129000	0.65627	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	1	0	0	26	128	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	1	26	127	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
FXR2	9513	broad.mit.edu	37	17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2			26					ATTGTATCTCGAAGTGGGCCG	0.617000																								0							SO:0001583	missense			ENST00000250113.7	1	1	hg19	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742899	0.30865	.	.	ENSG00000129245	ENST00000250113	T	0.29655	1.56	5.63	3.53	0.40419	.	0.852251	0.10465	N	0.671508	T	0.19446	0.0467	N	0.14661	0.345	0.09310	N	1	B	0.22414	0.069	B	0.13407	0.009	T	0.13899	-1.0492	10	0.49607	T	0.09	5.7236	10.3258	0.43792	0.0786:0.136:0.7853:0.0	.	500	P51116	FXR2_HUMAN	L	500	ENSP00000250113:S500L	ENSP00000250113:S500L	S	-	2	0	FXR2	7437056	0.991000	0.36638	0.677000	0.29947	0.659000	0.38960	2.881000	0.48538	1.517000	0.48917	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1	1	0	1	51	299	0	58	1	9.999505e-01	21	67	0	58	2		0	0	0	0	0	2	1	1	50	295	0	58	2								-3.320967	1	1	120600	1	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FXR2	9513	broad.mit.edu	37	17	7497589	7497589	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7497589T>C	ENST00000250113.7	-	10	1321	c.987A>G	c.(985-987)gaA>gaG	p.E329E	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2			26					CATTATCACCTTCCACTCGAA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000250113.7	1	1	hg19	CCDS45604.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1	0	0	0	44	162	0	36	1	1	34	155	0	36	2		0	0	0	0	0	2	1	1	42	161	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAT2	112483	broad.mit.edu	37	17	7530896	7530896	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7530896G>T	ENST00000269298.5	-	1	277	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	SHBG_ENST00000416273.3_5'Flank|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000574539.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000441599.2_5'Flank|SHBG_ENST00000575903.1_5'Flank|SHBG_ENST00000380450.4_5'Flank|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572182.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	p.?(1)		3				Spermine(DB00127)	ACCCGAATCAGCCTCAGGATA	0.677000																								1	Unknown(1)						SO:0001583	missense			ENST00000269298.5	1	1	hg19	CCDS11116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.725|8.725	0.915223|0.915223	0.17907|0.17907	.|.	.|.	ENSG00000141504|ENSG00000141504	ENST00000380466|ENST00000269298	.|T	.|0.57436	.|0.4	4.95|4.95	-0.0586|-0.0586	0.13796|0.13796	.|GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.585199|.	0.13069|.	N|.	0.416296|.	T|T	0.21590|0.21590	0.0520|0.0520	N|N	0.02420|0.02420	-0.555|-0.555	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.09377	.|0.004	T|T	0.04454|0.04454	-1.0950|-1.0950	7|9	0.16896|0.24483	T|T	0.51|0.36	-44.0846|-44.0846	6.3391|6.3391	0.21312|0.21312	0.0939:0.0:0.3584:0.5477|0.0939:0.0:0.3584:0.5477	.|.	.|20	.|Q96F10	.|SAT2_HUMAN	D|M	93|20	.|ENSP00000269298:L20M	ENSP00000369833:A93D|ENSP00000269298:L20M	A|L	-|-	2|1	0|2	SAT2|SAT2	7471621|7471621	0.884000|0.884000	0.30299|0.30299	0.998000|0.998000	0.56505|0.56505	0.811000|0.811000	0.45836|0.45836	-0.159000|-0.159000	0.10056|0.10056	0.200000|0.200000	0.20447|0.20447	-0.126000|-0.126000	0.14955|0.14955	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	1	0	0	51	249	0	55	1	1	97	254	0	55	2		0	0	0	0	0	2	1	1	51	242	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEPT9	10801	broad.mit.edu	37	17	75478280	75478280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:75478280C>T	ENST00000427177.1	+	4	902	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A95V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000329047.8_Missense_Mutation_p.A241V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9			16			BRCA - Breast invasive adenocarcinoma(99;0.153)		CCCAGAGATGCCGGGCTCAAG	0.652000																								0							SO:0001583	missense			ENST00000427177.1	0	1	hg19	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	c	10.19	1.281855	0.23392	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.47528	1.25;0.87;1.26;1.26;0.87;0.84	5.08	2.48	0.30137	.	1.700500	0.03765	U	0.258872	T	0.42966	0.1226	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B	0.23806	0.0;0.001;0.012;0.091;0.004;0.001;0.001	B;B;B;B;B;B;B	0.17433	0.001;0.002;0.015;0.018;0.005;0.005;0.002	T	0.20706	-1.0267	10	0.35671	T	0.21	.	6.1871	0.20503	0.0:0.6649:0.1468:0.1882	.	35;240;147;220;252;241;259	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;.;SEPT9_HUMAN	V	259;8;95;241;252;95;35;8;147	ENSP00000391249:A259V;ENSP00000400181:A95V;ENSP00000329161:A241V;ENSP00000405877:A252V;ENSP00000403194:A95V;ENSP00000415624:A147V	ENSP00000329161:A241V	A	+	2	0	SEPT9	72989875	0.028000	0.19301	0.001000	0.08648	0.248000	0.25809	0.947000	0.29082	0.407000	0.25591	0.627000	0.83407	GCC		TCGA-IB-7651-01A-11D-2154-08	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	0	0	0	15	75	0	24	1	1	135	389	0	24	2		0	0	0	0	0	2	1	9.998969e-01	15	72	0	24	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999302	0.990000	1	9.900000e-01	1
TNRC6C	57690	broad.mit.edu	37	17	76060855	76060855	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76060855T>C	ENST00000588061.1	+	6	3175	c.2448T>C	c.(2446-2448)tcT>tcC	p.S816S	TNRC6C_ENST00000335749.4_Silent_p.S813S|TNRC6C_ENST00000301624.4_Silent_p.S816S|TNRC6C_ENST00000544502.1_Silent_p.S813S|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000588847.1_Silent_p.S813S|TNRC6C_ENST00000541771.1_Silent_p.S816S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C			40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		CTGAAAACTCTTGGGGAGAAC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000588061.1	1	1	hg19	CCDS45798.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	1	0	1	61	259	0	56	0	8.347174e-01	1	15	0	56	2		0	0	0	0	0	2	1	1	62	255	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNRC6C	57690	broad.mit.edu	37	17	76083142	76083142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76083142C>A	ENST00000588061.1	+	15	4497	c.3770C>A	c.(3769-3771)tCt>tAt	p.S1257Y	TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C			40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		GAGCAGCAGTCTTCACCCAAC	0.582000																								0							SO:0001583	missense			ENST00000588061.1	1	1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774969	0.90108	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16897	2.32;2.31;2.31;2.32	5.48	5.48	0.80851	.	0.177279	0.51477	D	0.000081	T	0.36413	0.0966	M	0.61703	1.905	0.80722	D	1	P;P	0.51057	0.892;0.941	P;P	0.56434	0.714;0.798	T	0.01776	-1.1276	10	0.45353	T	0.12	-3.2971	19.3435	0.94355	0.0:1.0:0.0:0.0	.	1254;1257	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	Y	1257;1254;1254;1257;1257;1254	ENSP00000336783:S1254Y;ENSP00000301624:S1257Y;ENSP00000440310:S1257Y;ENSP00000442421:S1254Y	ENSP00000301624:S1257Y	S	+	2	0	TNRC6C	73594737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.604000	0.67626	2.563000	0.86464	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	1	0	1	57	548	0	96	1	8.906919e-01	2	37	0	96	2		0	0	0	0	0	2	1	1	57	533	0	96	2								-16.960390	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.860000	1.000000	1.000000	0.988247	0.990000	1	9.800000e-01	1
TNRC6C	57690	broad.mit.edu	37	17	76089140	76089140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76089140G>A	ENST00000588061.1	+	17	4824	c.4097G>A	c.(4096-4098)aGc>aAc	p.S1366N	TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1363N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C			40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		GTTCCCCATAGCTGGTCACGT	0.517000																								0							SO:0001583	missense			ENST00000588061.1	1	1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171830	0.57584	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16597	2.33;2.35;2.35;2.33	5.97	5.97	0.96955	.	0.038306	0.85682	D	0.000000	T	0.20251	0.0487	L	0.35723	1.085	0.58432	D	0.999999	P;B	0.42409	0.779;0.195	B;B	0.41813	0.367;0.043	T	0.00359	-1.1791	10	0.40728	T	0.16	-26.2854	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1363;1366	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	N	1366;1363;1363;1366;1366;1363	ENSP00000336783:S1363N;ENSP00000301624:S1366N;ENSP00000440310:S1366N;ENSP00000442421:S1363N	ENSP00000301624:S1366N	S	+	2	0	TNRC6C	73600735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.831000	0.97527	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	1	0	1	36	147	0	54	0	9.588758e-01	1	23	0	54	2		0	0	0	0	0	2	1	1	36	145	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMC6	11322	broad.mit.edu	37	17	76120077	76120077	+	Missense_Mutation	SNP	C	C	T	rs145227095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76120077C>T	ENST00000590602.1	-	9	1234	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M|TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M|TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6			14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		TACCTGTACACCAGGGTGATG	0.557000																								0							SO:0001583	missense			ENST00000590602.1	1	1	hg19	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313848	0.60414	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.65916	-0.18;-0.18;-0.18	4.34	4.34	0.51931	.	0.319446	0.28436	N	0.015355	T	0.73345	0.3575	M	0.62088	1.915	0.80722	D	1	D;P;D;D	0.64830	0.994;0.759;0.959;0.985	D;B;P;P	0.64687	0.928;0.414;0.556;0.838	T	0.75505	-0.3294	10	0.56958	D	0.05	-28.0279	12.4474	0.55659	0.0:0.9134:0.0:0.0866	.	359;132;359;359	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;TMC6_HUMAN	M	359	ENSP00000313408:V359M;ENSP00000376260:V359M;ENSP00000306405:V359M	ENSP00000306405:V359M	V	-	1	0	TMC6	73631672	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.587000	0.67510	1.945000	0.56424	0.455000	0.32223	GTG		TCGA-IB-7651-01A-11D-2154-08	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1	1	0	1	54	210	0	61	1	9.999772e-01	15	50	0	61	2		0	0	0	0	0	2	1	1	52	204	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMC6	11322	broad.mit.edu	37	17	76122448	76122448	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76122448C>T	ENST00000590602.1	-	4	341		c.e4-1		TMC6_ENST00000306591.7_Splice_Site|TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000322914.3_Splice_Site|TMC6_ENST00000322933.4_Splice_Site|TMC6_ENST00000392467.3_Splice_Site			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6			14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		TGGCTACTTCCTACAAAGCAA	0.637000																								0							SO:0001630	splice_region_variant			ENST00000590602.1	0	1	hg19	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165376	0.21538	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.35357	D	0.787859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0394	0.58891	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMC6	73634043	0.348000	0.24861	0.022000	0.16811	0.039000	0.13416	5.236000	0.65354	1.867000	0.54127	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1	1	0	0	21	62	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.999992e-01	21	62	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TMC8	147138	broad.mit.edu	37	17	76128508	76128508	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76128508A>G	ENST00000318430.5	+	4	741	c.367A>G	c.(367-369)Agc>Ggc	p.S123G	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8			12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		CAACCTGCTGAGCCTGCTGCT	0.642000																								0							SO:0001583	missense			ENST00000318430.5	0	1	hg19	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465858	0.26335	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.55413	0.52	4.13	4.13	0.48395	.	0.610314	0.17676	N	0.165800	T	0.35128	0.0921	N	0.25245	0.725	0.39951	D	0.974545	B	0.21381	0.055	B	0.16722	0.016	T	0.30880	-0.9963	10	0.54805	T	0.06	-27.8647	6.1247	0.20172	0.8852:0.0:0.1148:0.0	.	123	Q8IU68	TMC8_HUMAN	G	123	ENSP00000325561:S123G	ENSP00000301627:S123G	S	+	1	0	TMC8	73640103	0.134000	0.22483	0.780000	0.31762	0.293000	0.27360	1.004000	0.29822	1.738000	0.51689	0.459000	0.35465	AGC		TCGA-IB-7651-01A-11D-2154-08	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3	1	0	1	10	110	0	22	0	9.941934e-02	0	6	0	22	2		0	0	0	0	0	2	1	9.971616e-01	10	109	0	22	2								-15.618610	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.530000	1.000000	1.000000	0.907897	0.990000	1	7.500000e-01	1
AFMID	125061	broad.mit.edu	37	17	76187079	76187079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76187079G>A	ENST00000586731.1	+	2	62	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q|AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000409257.5_Missense_Mutation_p.R31Q|AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q					arylformamidase			19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		TGTCCCAGCCGATGGGTTGTC	0.567000																								0							SO:0001583	missense			ENST00000586731.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.510	0.094635	0.08681	2.27E-4	0.0	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.81	1.68	0.24146	.	0.599357	0.14078	N	0.342936	T	0.19685	0.0473	N	0.21194	0.64	0.20563	N	0.999889	B;P;B;B	0.34462	0.029;0.454;0.001;0.006	B;B;B;B	0.23852	0.033;0.049;0.002;0.007	T	0.11665	-1.0578	9	0.18276	T	0.48	-3.4178	11.125	0.48312	0.2104:0.0:0.7896:0.0	.	31;31;31;31	A5PLM3;B8ZZB1;Q63HM1;Q63HM1-2	.;.;AFMID_HUMAN;.	Q	31	.	ENSP00000328938:R31Q	R	+	2	0	AFMID	73698674	1.000000	0.71417	0.953000	0.39169	0.005000	0.04900	1.756000	0.38390	-0.116000	0.11893	-1.307000	0.01316	CGA		TCGA-IB-7651-01A-11D-2154-08	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1	1	0	0	7	166	0	35	0	6.970498e-01	0	57	0	35	2		0	0	0	0	0	2	1	9.791965e-01	7	161	0	34	2								-3.391547	1	1	121412	1	26	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.520000	0.230000	1.000000	0.470000	0.569093	0.520000	0	3.500000e-01	8.000000e-01
AFMID	125061	broad.mit.edu	37	17	76200768	76200768	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76200768C>T	ENST00000327898.5	+	5	349	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000409257.5_Silent_p.L114L|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron					arylformamidase			19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		GGTCCACCCGCTGACGGCACA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000327898.5	1	1	hg19	CCDS45801.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	1	0	1	28	202	0	54	1	8.232094e-01	8	17	0	54	2		0	0	0	0	0	2	1	1	28	196	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998307	0.990000	1	9.900000e-01	1
SOCS3	9021	broad.mit.edu	37	17	76354664	76354664	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76354664G>A	ENST00000330871.2	-	2	928	c.513C>T	c.(511-513)ggC>ggT	p.G171G	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3			6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)		GGATCTTCTCGCCCCCGGAGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000330871.2	0	1	hg19	CCDS11756.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1	0	0	0	8	277	0	61	1	7.537386e-01	2	92	0	61	2		0	0	0	0	0	2	1	9.891823e-01	8	274	0	60	2								-8.638650	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.360000	0.160000	1.000000	0.330000	0.422668	0.360000	0	2.400000e-01	5.500000e-01
DNAH17	8632	broad.mit.edu	37	17	76430117	76430117	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76430117T>C	ENST00000585328.1	-	75	12327	c.12203A>G	c.(12202-12204)aAc>aGc	p.N4068S	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.N4067S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		CACCTTGGGGTTGGCCTCCAG	0.612000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	16.15	3.040736	0.55003	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08896	3.04	5.64	4.57	0.56435	.	0.184935	0.37669	N	0.002000	T	0.10465	0.0256	L	0.45137	1.4	0.39459	D	0.96753	B	0.31790	0.34	B	0.38056	0.264	T	0.14811	-1.0459	10	0.35671	T	0.21	.	11.5876	0.50927	0.0:0.0698:0.0:0.9301	.	4068	E7EUM8	.	S	4068;4067	ENSP00000374490:N4067S	ENSP00000300671:N4068S	N	-	2	0	DNAH17	73941712	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	7.891000	0.87319	0.990000	0.38787	0.454000	0.30748	AAC		TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	120	590	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	1	117	579	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76435168	76435168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76435168G>A	ENST00000389840.5	-	73	11891	c.11767C>T	c.(11767-11769)Cga>Tga	p.R3923*	DNAH17_ENST00000585328.1_Intron|DNAH17_ENST00000586052.1_Intron			Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		TGGCCCCCTCGTACCTGCAGA	0.602000																								0							SO:0001587	stop_gained			ENST00000389840.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	52	19.831898	0.99924	.	.	ENSG00000187775	ENST00000389840	.	.	.	3.69	0.391	0.16282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6418	0.00812	0.3494:0.1666:0.314:0.1701	.	.	.	.	X	3923	.	ENSP00000374490:R3923X	R	-	1	2	DNAH17	73946763	0.979000	0.34478	0.000000	0.03702	0.290000	0.27261	-0.021000	0.12504	-0.049000	0.13379	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	DNAH17-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	24	105	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	9.999998e-01	23	104	0	36	2								-20.000000	1	1	121398	9	38	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76450748	76450748	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76450748G>T	ENST00000585328.1	-	64	10319	c.10195C>A	c.(10195-10197)Ctg>Atg	p.L3399M	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.L3390M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		TCTGTCAGCAGGCTCAAGGGA	0.587000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.642	0.119399	0.08881	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25579	1.79	5.21	4.23	0.50019	.	0.000000	0.48767	D	0.000175	T	0.13072	0.0317	N	0.10707	0.03	0.35803	D	0.823276	B	0.23937	0.094	B	0.31390	0.129	T	0.12708	-1.0537	10	0.05721	T	0.95	.	12.8723	0.57972	0.0:0.0:0.7035:0.2965	.	3399	E7EUM8	.	M	3399;3390	ENSP00000374490:L3390M	ENSP00000300671:L3399M	L	-	1	2	DNAH17	73962343	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	1.531000	0.36018	1.152000	0.42452	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	0	0	1	56	271	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	55	264	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76451842	76451842	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76451842G>T	ENST00000585328.1	-	63	10163	c.10039C>A	c.(10039-10041)Ctg>Atg	p.L3347M	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Missense_Mutation_p.L3338M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		TCCCCACACAGCGTGACCCCC	0.532000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.74	2.923168	0.52653	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.81579	-1.51	5.06	3.88	0.44766	.	0.000000	0.47093	D	0.000245	D	0.88340	0.6410	M	0.85197	2.74	0.30684	N	0.752072	D	0.71674	0.998	D	0.69479	0.964	D	0.85895	0.1431	10	0.59425	D	0.04	.	9.4508	0.38725	0.2271:0.0:0.7729:0.0	.	3347	E7EUM8	.	M	3347;3338	ENSP00000374490:L3338M	ENSP00000300671:L3347M	L	-	1	2	DNAH17	73963437	0.791000	0.28800	0.926000	0.36857	0.642000	0.38348	1.082000	0.30803	2.334000	0.79466	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	22	99	0	25	0	0	1	0	0	25	2		0	0	0	0	0	2	1	9.999993e-01	22	98	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76458993	76458993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76458993G>A	ENST00000585328.1	-	57	9216	c.9092C>T	c.(9091-9093)aCg>aTg	p.T3031M	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.T3022M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		AACAAGTTCCGTTCTCTTCTT	0.557000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043442	0.07452	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.39997	1.05	5.04	-3.41	0.04839	.	0.538280	0.17352	N	0.177358	T	0.27169	0.0666	L	0.52266	1.64	0.19300	N	0.999972	B	0.16396	0.017	B	0.14578	0.011	T	0.13388	-1.0511	10	0.44086	T	0.13	.	2.5082	0.04650	0.3344:0.252:0.3156:0.0981	.	3031	E7EUM8	.	M	3031;3022	ENSP00000374490:T3022M	ENSP00000300671:T3031M	T	-	2	0	DNAH17	73970588	0.000000	0.05858	0.315000	0.25238	0.055000	0.15305	-1.529000	0.02223	-0.638000	0.05509	-1.281000	0.01382	ACG		TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	52	238	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	52	237	0	49	2								-20.000000	1	1	121408	4	40	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76475586	76475586	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76475586C>T	ENST00000585328.1	-	50	7990	c.7866G>A	c.(7864-7866)caG>caA	p.Q2622Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.Q2613Q	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		CGGCCACCAGCTGGCTGCTTA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000585328.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	59	268	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	57	260	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76482324	76482324	+	Silent	SNP	G	G	T	rs141022219	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76482324G>T	ENST00000585328.1	-	45	7192	c.7068C>A	c.(7066-7068)ggC>ggA	p.G2356G	RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.G2347G	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		GGAACATGGCGCCACCGAAGG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000585328.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	39	184	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	39	181	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76496430	76496430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76496430G>A	ENST00000585328.1	-	36	5706	c.5582C>T	c.(5581-5583)aCc>aTc	p.T1861I	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D|DNAH17_ENST00000389840.5_Missense_Mutation_p.T1852I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		GTAGACCATGGTGCCCAGGGC	0.622000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.354	0.065090	0.08388	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.07444	3.19	4.07	2.04	0.26737	.	.	.	.	.	T	0.01287	0.0042	N	0.00113	-2.09	0.31028	N	0.717726	.	.	.	.	.	.	T	0.42310	-0.9459	7	0.02654	T	1	.	4.5718	0.12214	0.4621:0.0:0.5378:0.0	.	.	.	.	I	1861;1852	ENSP00000374490:T1852I	ENSP00000300671:T1861I	T	-	2	0	DNAH17	74008025	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.270000	0.58896	1.055000	0.40461	0.448000	0.29417	ACC		TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	23	74	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999997e-01	22	72	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76498715	76498715	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76498715C>A	ENST00000585328.1	-	33	5263	c.5139G>T	c.(5137-5139)gaG>gaT	p.E1713D	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E1705D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		CATAGCCTTCCTCCAGCCTGG	0.478000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.65	2.897077	0.52121	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.27557	1.66	5.5	3.15	0.36227	.	.	.	.	.	T	0.48187	0.1486	M	0.83223	2.63	0.33228	D	0.55551	.	.	.	.	.	.	T	0.62765	-0.6785	7	0.54805	T	0.06	.	9.4777	0.38882	0.0:0.7015:0.0:0.2985	.	.	.	.	D	1713;1705	ENSP00000374490:E1705D	ENSP00000300671:E1713D	E	-	3	2	DNAH17	74010310	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.856000	0.39389	1.299000	0.44798	0.448000	0.29417	GAG		TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	30	127	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1	29	124	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DNAH17	8632	broad.mit.edu	37	17	76565528	76565528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76565528C>A	ENST00000585328.1	-	8	1250	c.1126G>T	c.(1126-1128)Gct>Tct	p.A376S	DNAH17_ENST00000389840.5_Missense_Mutation_p.A376S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17			116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		ACATTTACAGCCAGGGAGATG	0.542000																								0							SO:0001583	missense			ENST00000585328.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.696638	0.00725	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55052	0.54	4.65	2.34	0.29019	.	0.538685	0.15187	N	0.275778	T	0.31796	0.0808	N	0.12502	0.225	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.19128	-1.0315	10	0.12430	T	0.62	.	11.712	0.51630	0.4394:0.5606:0.0:0.0	.	78	Q9UFH2-4	.	S	376	ENSP00000374490:A376S	ENSP00000300671:A376S	A	-	1	0	DNAH17	74077123	0.391000	0.25221	0.521000	0.27850	0.023000	0.10783	0.593000	0.23999	0.163000	0.19507	-0.410000	0.06199	GCT		TCGA-IB-7651-01A-11D-2154-08	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	1	0	1	18	84	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999894e-01	18	83	0	16	2								-20.000000	1	1	121402	3	31	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999825	0.990000	1	9.900000e-01	1
DNAH2	146754	broad.mit.edu	37	17	7660422	7660422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7660422C>T	ENST00000572933.1	+	13	3378	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F|RPL29P2_ENST00000498671.1_RNA			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			CCTTCTGATTCTCTTTGCGGA	0.567000																								0							SO:0001583	missense			ENST00000572933.1	1	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716165	0.48622	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.65364	-0.15	4.96	4.96	0.65561	Dynein heavy chain, domain-1 (1);	0.163839	0.41097	D	0.000952	T	0.77103	0.4081	M	0.85710	2.77	0.80722	D	1	D	0.63046	0.992	D	0.73380	0.98	T	0.79327	-0.1849	10	0.72032	D	0.01	.	6.3087	0.21153	0.1845:0.7244:0.0:0.0911	.	640	Q9P225	DYH2_HUMAN	F	640	ENSP00000373825:L640F	ENSP00000353818:L640F	L	+	1	0	DNAH2	7601147	0.879000	0.30193	1.000000	0.80357	0.519000	0.34347	1.072000	0.30678	2.578000	0.87016	0.491000	0.48974	CTC		TCGA-IB-7651-01A-11D-2154-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1	316	1302	0	303		0	0	0	0	303	2		0	0	0	0	0	2	1	1	313	1263	0	300	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH2	146754	broad.mit.edu	37	17	7667264	7667264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7667264C>T	ENST00000572933.1	+	19	4554	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			CAATGAATGGCAGAACAAGTT	0.572000																								0							SO:0001587	stop_gained			ENST00000572933.1	0	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	42	9.586910	0.99213	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8308	0.85944	0.0:1.0:0.0:0.0	.	.	.	.	X	1032	.	ENSP00000353818:Q1032X	Q	+	1	0	DNAH2	7607989	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.871000	0.75531	2.251000	0.74343	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1	70	273	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	70	271	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP36	57602	broad.mit.edu	37	17	76799818	76799818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76799818G>A	ENST00000542802.3	-	16	2902	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Missense_Mutation_p.P820L			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36			34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		CAGCCTCTGCGGCTCTCCCAC	0.622000																								0							SO:0001583	missense			ENST00000542802.3	0	1	hg19	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	7.663	0.685435	0.14973	.	.	ENSG00000055483	ENST00000312010;ENST00000542802	T;T	0.06608	3.28;3.28	5.19	-2.67	0.06059	.	2.273500	0.01508	N	0.017791	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40739	-0.9547	10	0.27785	T	0.31	.	8.3188	0.32117	0.1328:0.0:0.6159:0.2513	.	820;820	Q9P275;Q9P275-2	UBP36_HUMAN;.	L	820	ENSP00000310590:P820L;ENSP00000441214:P820L	ENSP00000310590:P820L	P	-	2	0	USP36	74311413	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.705000	0.01896	-0.311000	0.08754	-0.254000	0.11334	CCG		TCGA-IB-7651-01A-11D-2154-08	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	0	0	1	36	259	1	53	1	9.233349e-01	10	93	1	53	8		0	0	0	0	0	2	1	9.957551e-01	36	252	1	53	18								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999282	0.990000	1	9.900000e-01	1
USP36	57602	broad.mit.edu	37	17	76803497	76803497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76803497C>T	ENST00000542802.3	-	14	2072	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	USP36_ENST00000588467.1_5'Flank|USP36_ENST00000449938.2_Silent_p.Q243Q|USP36_ENST00000312010.6_Silent_p.Q543Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36			34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		GGGAAAAGTGCTGTGGAGGAG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000542802.3	1	1	hg19	CCDS32755.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	1	0	1	39	194	0	31	1	9.999877e-01	27	62	0	31	2		0	0	0	0	0	2	1	1	39	192	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DNAH2	146754	broad.mit.edu	37	17	7689644	7689644	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7689644A>C	ENST00000572933.1	+	40	7792	c.6332A>C	c.(6331-6333)aAc>aCc	p.N2111T	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			GGAGACCCTAACTTCAACATT	0.597000																								0							SO:0001583	missense			ENST00000572933.1	1	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255034	0.39896	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.44881	0.91	5.43	4.35	0.52113	ATPase, dynein-related, AAA domain (1);	0.283115	0.39834	N	0.001242	T	0.30355	0.0762	L	0.42632	1.34	0.80722	D	1	B	0.19583	0.037	B	0.21546	0.035	T	0.07616	-1.0763	10	0.14252	T	0.57	.	6.8105	0.23802	0.7675:0.1527:0.0798:0.0	.	2111	Q9P225	DYH2_HUMAN	T	2111	ENSP00000373825:N2111T	ENSP00000353818:N2111T	N	+	2	0	DNAH2	7630369	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.029000	0.41098	1.086000	0.41228	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	0	16	178	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	9.999379e-01	16	175	0	44	2								-19.996690	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.600000	1.000000	1.000000	0.920811	0.990000	1	7.800000e-01	1
DNAH2	146754	broad.mit.edu	37	17	7691258	7691258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691258C>A	ENST00000572933.1	+	43	8144	c.6684C>A	c.(6682-6684)gaC>gaA	p.D2228E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			TCTACACTGACTACGCTGACC	0.547000																								0							SO:0001583	missense			ENST00000572933.1	1	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531386	0.64972	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87729	-2.29	5.07	0.635	0.17723	.	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	L	0.42008	1.315	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80266	-0.1454	10	0.10636	T	0.68	.	3.5746	0.07930	0.0:0.3903:0.1908:0.4189	.	2228	Q9P225	DYH2_HUMAN	E	2228	ENSP00000373825:D2228E	ENSP00000353818:D2228E	D	+	3	2	DNAH2	7631983	1.000000	0.71417	0.854000	0.33618	0.544000	0.35116	1.168000	0.31859	0.323000	0.23307	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1	41	283	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	41	277	0	81	2								-20.000000	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999782	0.990000	1	9.900000e-01	1
LGALS3BP	3959	broad.mit.edu	37	17	76967886	76967886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76967886G>A	ENST00000262776.3	-	6	1838	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein			17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		GATCTGAGCCGCCAGACTTGG	0.612000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GBM(89;1105 1755 18102 21513)											0							SO:0001819	synonymous_variant			ENST00000262776.3	1	1	hg19	CCDS11759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	1	0	1	43	175	0	51	1	1	1419	4117	0	51	2		0	0	0	0	0	2	1	1	43	172	0	51	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGALS3BP	3959	broad.mit.edu	37	17	76969225	76969225	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76969225G>T	ENST00000262776.3	-	5	764	c.456C>A	c.(454-456)ggC>ggA	p.G152G	LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Silent_p.G152G	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein			17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		ACAGGTCGCAGCCCCGCTGGC	0.647000													GBM(89;1105 1755 18102 21513)											0							SO:0001819	synonymous_variant			ENST00000262776.3	0	1	hg19	CCDS11759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	0	0	0	6	78	0	22	1	1	376	2824	0	22	2		0	0	0	0	0	2	1	9.655487e-01	5	78	0	22	2								-11.193780	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.910000	0.380000	1.000000	1.000000	0.835802	0.910000	1	6.000000e-01	1
DNAH2	146754	broad.mit.edu	37	17	7699832	7699832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7699832G>T	ENST00000572933.1	+	50	9185	c.7725G>T	c.(7723-7725)caG>caT	p.Q2575H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			AGAAGCTTCAGGACTTTGAGG	0.562000																								0							SO:0001583	missense			ENST00000572933.1	1	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832290	0.50845	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40476	1.03	5.4	4.43	0.53597	.	0.131736	0.52532	D	0.000076	T	0.42268	0.1195	L	0.57536	1.79	0.80722	D	1	B	0.13594	0.008	B	0.25405	0.06	T	0.37709	-0.9694	10	0.51188	T	0.08	.	13.2661	0.60135	0.0773:0.0:0.9227:0.0	.	2575	Q9P225	DYH2_HUMAN	H	2575	ENSP00000373825:Q2575H	ENSP00000353818:Q2575H	Q	+	3	2	DNAH2	7640557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.487000	0.60293	1.508000	0.48769	0.609000	0.83330	CAG		TCGA-IB-7651-01A-11D-2154-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1	62	238	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	59	233	0	66	2								-3.579975	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH2	146754	broad.mit.edu	37	17	7702026	7702026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7702026A>G	ENST00000572933.1	+	55	10009	c.8549A>G	c.(8548-8550)gAa>gGa	p.E2850G	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2850G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			AAGCCTGATGAATTTGAAGAG	0.507000																								0							SO:0001583	missense			ENST00000572933.1	1	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715086	0.89112	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.56275	0.47	5.66	5.66	0.87406	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87871	0.2671	10	0.87932	D	0	.	14.8707	0.70456	1.0:0.0:0.0:0.0	.	2850	Q9P225	DYH2_HUMAN	G	2850	ENSP00000373825:E2850G	ENSP00000353818:E2850G	E	+	2	0	DNAH2	7642751	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.518000	0.90559	2.166000	0.68216	0.454000	0.30748	GAA		TCGA-IB-7651-01A-11D-2154-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	0	0	12	414	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	9.990374e-01	12	406	0	89	2								-11.693000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.350000	0.180000	1.000000	0.330000	0.424387	0.350000	0	2.600000e-01	5.200000e-01
C1QTNF1	114897	broad.mit.edu	37	17	77042743	77042743	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77042743G>T	ENST00000339142.2	+	4	817	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1			14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		CCCGGCGACCGCCGTGCCCCA	0.597000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000339142.2	1	1	hg19	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	g	2.674	-0.276982	0.05679	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.94232	-3.38;-1.51;-3.38	4.21	2.14	0.27477	.	0.290748	0.24652	N	0.036704	D	0.83018	0.5163	N	0.08118	0	0.09310	N	1	B;B;B	0.27823	0.19;0.19;0.116	B;B;B	0.30105	0.111;0.111;0.111	T	0.69658	-0.5086	10	0.14252	T	0.57	.	10.5504	0.45085	0.0:0.5937:0.4063:0.0	.	98;98;88	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	S	88;6;98;88;98	ENSP00000340864:A88S;ENSP00000311265:A6S;ENSP00000343230:A98S	ENSP00000311265:A6S	A	+	1	0	C1QTNF1	74554338	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.715000	0.25822	0.489000	0.27749	-0.319000	0.08680	GCC		TCGA-IB-7651-01A-11D-2154-08	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	1	0	1	112	539	0	109	1	9.999946e-01	11	73	0	109	2		0	0	0	0	0	2	1	1	111	530	0	106	2								-3.159521	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1QTNF1	114897	broad.mit.edu	37	17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1			14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		GCAGGTGGGCGACCGCAGCAT	0.577000																								0							SO:0001583	missense			ENST00000339142.2	1	1	hg19	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331789	0.81801	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.21734	1.99;1.99;1.99	5.21	5.21	0.72293	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.47488	0.1448	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	0.977;0.977;1.0	P;P;D	0.74348	0.701;0.701;0.983	T	0.42632	-0.9440	10	0.49607	T	0.09	.	18.7566	0.91835	0.0:0.0:1.0:0.0	.	237;237;227	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	227;145;237;227;237	ENSP00000340864:D227N;ENSP00000311265:D145N;ENSP00000343230:D237N	ENSP00000311265:D145N	D	+	1	0	C1QTNF1	74555598	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.787000	0.99055	2.430000	0.82344	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	1	0	1	63	290	0	60	1	1	38	162	0	60	2		0	0	0	0	0	2	1	1	63	288	0	60	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH2	146754	broad.mit.edu	37	17	7735942	7735942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7735942G>A	ENST00000572933.1	+	83	14232	c.12772G>A	c.(12772-12774)Gcc>Acc	p.A4258T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			CCGGGACTTGGCCATGCGTGT	0.572000																								0							SO:0001583	missense			ENST00000572933.1	1	1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697938	0.30142	.	.	ENSG00000183914	ENST00000389173	T	0.08458	3.09	5.41	5.41	0.78517	Dynein heavy chain (1);	0.376486	0.26586	N	0.023552	T	0.07503	0.0189	N	0.16098	0.37	0.80722	D	1	B	0.18310	0.027	B	0.22152	0.038	T	0.34054	-0.9844	10	0.49607	T	0.09	.	17.9726	0.89118	0.0:0.0:1.0:0.0	.	4258	Q9P225	DYH2_HUMAN	T	4258	ENSP00000373825:A4258T	ENSP00000373825:A4258T	A	+	1	0	DNAH2	7676667	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.988000	0.49386	2.546000	0.85860	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	0	1	182	794	0	173	1	8.741636e-01	9	9	0	173	2		0	0	0	0	0	2	1	1	181	768	0	170	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM6B	23135	broad.mit.edu	37	17	7750937	7750937	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7750937G>T	ENST00000448097.2	+	11	1662	c.1331G>T	c.(1330-1332)aGc>aTc	p.S444I	KDM6B_ENST00000254846.5_Missense_Mutation_p.S444I			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B			37					TCGGCACACAGCAGTCGGAAA	0.657000																								0							SO:0001583	missense			ENST00000448097.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.14	1.549796	0.27652	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.09163	3.01;3.01	4.19	3.23	0.37069	.	0.355288	0.27185	N	0.020531	T	0.07548	0.0190	N	0.14661	0.345	0.26903	N	0.967064	B	0.28880	0.226	B	0.34138	0.176	T	0.25117	-1.0141	10	0.52906	T	0.07	-4.2785	9.4896	0.38951	0.1015:0.0:0.8985:0.0	.	444	O15054-1	.	I	444	ENSP00000254846:S444I;ENSP00000412513:S444I	ENSP00000254846:S444I	S	+	2	0	KDM6B	7691662	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.180000	0.42537	1.129000	0.42072	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	0	36	140	0	29	1	9.877339e-01	6	24	0	29	2		0	0	0	0	0	2	1	1	36	136	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM6B	23135	broad.mit.edu	37	17	7751581	7751581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751581G>A	ENST00000448097.2	+	11	2306	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	KDM6B_ENST00000254846.5_Missense_Mutation_p.G659R			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B			37					TGTGCCGCCCGGGGTTGGGGA	0.687000																								0							SO:0001583	missense			ENST00000448097.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	1.555	-0.538130	0.04082	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.07216	3.21;3.21	4.52	-3.84	0.04256	.	1.227230	0.05789	N	0.609988	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	10	0.28530	T	0.3	0.4754	11.6493	0.51279	0.3807:0.0:0.6193:0.0	.	659	O15054-1	.	R	659	ENSP00000254846:G659R;ENSP00000412513:G659R	ENSP00000254846:G659R	G	+	1	0	KDM6B	7692306	0.003000	0.15002	0.056000	0.19401	0.038000	0.13279	-0.068000	0.11561	-0.664000	0.05324	-2.436000	0.00213	GGG		TCGA-IB-7651-01A-11D-2154-08	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	0	99	395	0	107	1	9.989414e-01	10	33	0	107	2		0	0	0	0	0	2	1	1	97	383	0	105	2								-3.069774	1	1	120434	1	29	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM6B	23135	broad.mit.edu	37	17	7752715	7752715	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7752715G>A	ENST00000448097.2	+	11	3440	c.3109G>A	c.(3109-3111)Gat>Aat	p.D1037N	KDM6B_ENST00000254846.5_Missense_Mutation_p.D1037N			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B			37					GTCCCGGCCCGATCTTGGCGG	0.662000																								0							SO:0001583	missense			ENST00000448097.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.299	0.423180	0.11928	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32753	1.44;1.44	3.67	3.67	0.42095	.	0.510853	0.15246	N	0.272627	T	0.18551	0.0445	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.118;0.041	B;B	0.18561	0.007;0.022	T	0.11012	-1.0605	10	0.30854	T	0.27	-1.9598	13.2917	0.60274	0.0:0.0:1.0:0.0	.	1037;1037	O15054;O15054-1	KDM6B_HUMAN;.	N	1037	ENSP00000254846:D1037N;ENSP00000412513:D1037N	ENSP00000254846:D1037N	D	+	1	0	KDM6B	7693440	0.757000	0.28394	0.032000	0.17829	0.529000	0.34654	3.116000	0.50399	2.074000	0.62210	0.462000	0.41574	GAT		TCGA-IB-7651-01A-11D-2154-08	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	1	7	97	0	20	1	9.852089e-01	15	96	0	20	2		0	0	0	0	0	2	1	9.775262e-01	7	92	0	19	2								-11.593890	1	1	120620	3	32	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.860000	0.380000	1.000000	1.000000	0.817678	0.860000	1	5.800000e-01	1
KDM6B	23135	broad.mit.edu	37	17	7754506	7754506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7754506G>A	ENST00000448097.2	+	14	4172	c.3841G>A	c.(3841-3843)Gca>Aca	p.A1281T	KDM6B_ENST00000254846.5_Missense_Mutation_p.A1281T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B			37					TGCCAAGTACGCACAGTACCA	0.617000																								0							SO:0001583	missense			ENST00000448097.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.99	3.928187	0.73327	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.79845	-1.31;-1.31	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	D	0.92249	0.5807	10	0.87932	D	0	-8.676	17.333	0.87271	0.0:0.0:1.0:0.0	.	1281;1281	O15054;O15054-1	KDM6B_HUMAN;.	T	1281	ENSP00000254846:A1281T;ENSP00000412513:A1281T	ENSP00000254846:A1281T	A	+	1	0	KDM6B	7695231	1.000000	0.71417	0.936000	0.37596	0.871000	0.50021	6.254000	0.72460	2.718000	0.92993	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	0	31	410	0	108	1	9.941109e-01	8	98	0	108	2		0	0	0	0	0	2	1	1	31	403	0	105	2								-3.221883	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.850000	0.580000	1.000000	1.000000	0.854286	0.850000	1	7.100000e-01	1
ENPP7	339221	broad.mit.edu	37	17	77708906	77708906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77708906C>T	ENST00000328313.5	+	3	685	c.464C>T	c.(463-465)aCg>aTg	p.T155M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7			34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		GTGGCTGTGACGCGGAGCCGG	0.592000																								0							SO:0001583	missense			ENST00000328313.5	0	1	hg19	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924791	0.18056	2.27E-4	0.0	ENSG00000182156	ENST00000328313	T	0.73152	-0.72	5.0	3.98	0.46160	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.685970	0.03101	N	0.161042	T	0.78027	0.4219	M	0.84156	2.68	0.09310	N	1	P	0.44478	0.836	P	0.44623	0.455	T	0.62845	-0.6768	10	0.44086	T	0.13	-9.8491	9.2231	0.37388	0.3944:0.4916:0.114:0.0	.	155	Q6UWV6	ENPP7_HUMAN	M	155	ENSP00000332656:T155M	ENSP00000332656:T155M	T	+	2	0	ENPP7	75323501	0.005000	0.15991	0.848000	0.33437	0.200000	0.23975	1.814000	0.38972	2.308000	0.77769	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	0	0	0	8	343	0	65	0	7.202189e-04	0	2	0	65	2		0	0	0	0	0	2	1	9.886745e-01	8	336	0	65	2								-8.013983	1	0	121398	10	38	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.290000	0.130000	1.000000	0.270000	0.361101	0.290000	0	2.000000e-01	4.500000e-01
ENPP7	339221	broad.mit.edu	37	17	77709051	77709051	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709051C>T	ENST00000328313.5	+	3	830	c.609C>T	c.(607-609)caC>caT	p.H203H		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7			34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		CCACGGGCCACAGGTACGGCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000328313.5	1	1	hg19	CCDS11763.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	1	0	1	50	254	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	1	50	250	0	35	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPP7	339221	broad.mit.edu	37	17	77709091	77709091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709091C>T	ENST00000328313.5	+	3	870	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7			34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		GGAGATGGTGCGGCAGGTGGA	0.657000																								0							SO:0001583	missense			ENST00000328313.5	1	1	hg19	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456406	0.63401	.	.	ENSG00000182156	ENST00000328313	T	0.74842	-0.88	4.75	-7.62	0.01294	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.834740	0.03017	N	0.150178	T	0.77698	0.4169	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.58970	0.849	T	0.73824	-0.3861	10	0.72032	D	0.01	-3.7225	2.7238	0.05208	0.3744:0.241:0.2928:0.0918	.	217	Q6UWV6	ENPP7_HUMAN	W	217	ENSP00000332656:R217W	ENSP00000332656:R217W	R	+	1	2	ENPP7	75323686	0.000000	0.05858	0.015000	0.15790	0.864000	0.49448	-0.162000	0.10012	-0.936000	0.03723	-0.282000	0.10007	CGG		TCGA-IB-7651-01A-11D-2154-08	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	1	0	1	67	245	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	63	237	0	34	2								-20.000000	1	0	121406	1	32	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPP7	339221	broad.mit.edu	37	17	77711050	77711050	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711050C>T	ENST00000328313.5	+	4	1458	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7			34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		GCTGCCCATGCTGCACACAGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000328313.5	0	1	hg19	CCDS11763.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	1	0	1	11	108	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.985275e-01	11	107	0	18	2								-17.601660	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.600000	1.000000	1.000000	0.942465	0.990000	1	8.300000e-01	1
ENPP7	339221	broad.mit.edu	37	17	77711769	77711769	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711769C>A	ENST00000328313.5	+	5	1522	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7			34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		GGAAGATCTGCTCTCCCGCCC	0.597000																								0							SO:0001583	missense			ENST00000328313.5	1	1	hg19	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	4.545	0.101210	0.08731	.	.	ENSG00000182156	ENST00000328313	T	0.74106	-0.81	2.32	2.32	0.28847	.	1.464090	0.05503	U	0.558779	T	0.53077	0.1774	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.38954	0.286	T	0.50499	-0.8821	10	0.33141	T	0.24	.	8.2235	0.31556	0.0:1.0:0.0:0.0	.	434	Q6UWV6	ENPP7_HUMAN	D	434	ENSP00000332656:A434D	ENSP00000332656:A434D	A	+	2	0	ENPP7	75326364	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	1.075000	0.30716	1.609000	0.50190	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	0	0	0	19	544	0	102	0	0	0	1	0	102	2		0	0	0	0	0	2	1	9.999892e-01	17	536	0	102	2								-16.970250	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.410000	0.250000	1.000000	0.400000	0.468718	0.410000	0	3.200000e-01	5.500000e-01
CBX2	84733	broad.mit.edu	37	17	77757883	77757883	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77757883T>G	ENST00000310942.4	+	5	745	c.641T>G	c.(640-642)cTg>cGg	p.L214R		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2			16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		CTGGCAGCTCTGAAGGCCCAC	0.706000																								0							SO:0001583	missense			ENST00000310942.4	1	1	hg19	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345067	0.61073	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	5.47	0.80525	.	1.293620	0.04930	N	0.456680	T	0.65196	0.2668	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.52631	-0.8550	9	0.08837	T	0.75	-1.1594	15.206	0.73180	0.0:0.0:0.0:1.0	.	214	Q14781	CBX2_HUMAN	R	214	.	ENSP00000308750:L214R	L	+	2	0	CBX2	75372478	1.000000	0.71417	0.990000	0.47175	0.897000	0.52465	2.464000	0.45067	2.083000	0.62718	0.533000	0.62120	CTG		TCGA-IB-7651-01A-11D-2154-08	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	1	0	1	58	210	0	40	0	4.838048e-02	0	2	0	40	2		0	0	0	0	0	2	1	1	57	201	0	39	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD3	1107	broad.mit.edu	37	17	7800528	7800528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7800528C>A	ENST00000330494.7	+	11	1985	c.1835C>A	c.(1834-1836)cCg>cAg	p.P612Q	CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q|CHD3_ENST00000380358.4_Missense_Mutation_p.P671Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3			65		Prostate(122;0.202)			GTGAAAGACCCGCACTATGCT	0.547000																								0							SO:0001583	missense			ENST00000330494.7	1	1	hg19	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750561	0.69533	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.72167	-0.63;-0.63;-0.63	5.67	5.67	0.87782	.	0.000000	0.44902	D	0.000418	T	0.79975	0.4539	L	0.49126	1.545	0.80722	D	1	D;D;D	0.63046	0.989;0.98;0.992	P;P;P	0.62740	0.906;0.808;0.862	T	0.76594	-0.2902	10	0.34782	T	0.22	-17.69	19.7619	0.96323	0.0:1.0:0.0:0.0	.	612;612;671	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	671;612;612	ENSP00000369716:P671Q;ENSP00000350907:P612Q;ENSP00000332628:P612Q	ENSP00000332628:P612Q	P	+	2	0	CHD3	7741253	1.000000	0.71417	0.349000	0.25694	0.807000	0.45602	7.757000	0.85209	2.681000	0.91329	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1	84	365	0	99	1	1	3	121	0	99	2		0	0	0	0	0	2	1	1	81	360	0	97	2								-2.398806	0	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC40	55036	broad.mit.edu	37	17	78024044	78024044	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78024044C>A	ENST00000397545.4	+	7	1148	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	CCDC40_ENST00000374877.3_Missense_Mutation_p.T374N|CCDC40_ENST00000269318.5_Missense_Mutation_p.T374N|CCDC40_ENST00000374876.4_Missense_Mutation_p.T374N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40			38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		GCTCTCTACACCAAGACCTGC	0.657000																								0							SO:0001583	missense			ENST00000397545.4	0	1	hg19	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	8.144	0.785905	0.16189	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84944	0.94;-1.92;0.93;0.94	4.7	-1.27	0.09347	.	.	.	.	.	T	0.68632	0.3022	N	0.17474	0.49	0.09310	N	1	B;B;B	0.16603	0.018;0.003;0.001	B;B;B	0.16289	0.015;0.001;0.002	T	0.51849	-0.8653	9	0.11485	T	0.65	-6.5075	8.3251	0.32151	0.6184:0.2918:0.0:0.0898	.	374;374;157	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	N	374	ENSP00000364011:T374N;ENSP00000269318:T374N;ENSP00000364010:T374N;ENSP00000380679:T374N	ENSP00000269318:T374N	T	+	2	0	CCDC40	75638639	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	0.728000	0.26013	0.034000	0.15491	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	1	0	0	17	59	0	9	0	7.819851e-01	1	11	0	9	2		0	0	0	0	0	2	1	9.999844e-01	17	59	0	9	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
CCDC40	55036	broad.mit.edu	37	17	78032413	78032413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032413C>T	ENST00000397545.4	+	8	1307	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40			38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		AAGGCCGAGACGGAGAGGATC	0.502000																								0							SO:0001583	missense			ENST00000397545.4	1	1	hg19	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	2.861	-0.236089	0.05944	0.0	2.38E-4	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.48201	0.85;1.95;0.82;0.85	4.97	-7.27	0.01461	.	.	.	.	.	T	0.24812	0.0602	N	0.12182	0.205	0.09310	N	1	B;B;B	0.30584	0.109;0.089;0.286	B;B;B	0.18263	0.016;0.006;0.021	T	0.05257	-1.0896	9	0.31617	T	0.26	-6.0308	16.0752	0.80965	0.0:0.3129:0.0:0.6871	.	427;427;210	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	M	427	ENSP00000364011:T427M;ENSP00000269318:T427M;ENSP00000364010:T427M;ENSP00000380679:T427M	ENSP00000269318:T427M	T	+	2	0	CCDC40	75647008	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.337000	0.02657	-1.470000	0.01888	-0.253000	0.11424	ACG		TCGA-IB-7651-01A-11D-2154-08	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	1	0	1	43	185	0	39	1	8.934849e-01	3	16	0	39	2		0	0	0	0	0	2	1	1	43	184	0	39	2								-20.000000	1	0	120994	3	40	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD3	1107	broad.mit.edu	37	17	7803329	7803329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7803329G>A	ENST00000330494.7	+	16	2810	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q	CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q|CHD3_ENST00000380358.4_Missense_Mutation_p.R946Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3			65		Prostate(122;0.202)			GAGGCCCATCGACTCAAGAAC	0.468000																								0							SO:0001583	missense			ENST00000330494.7	1	1	hg19	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092861	0.76756	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93307	-3.2;-3.2;-3.2	5.4	5.4	0.78164	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.40144	N	0.001170	D	0.94814	0.8325	L	0.42581	1.335	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60949	0.811;0.881;0.881	D	0.95076	0.8209	10	0.87932	D	0	-14.6293	19.3554	0.94410	0.0:0.0:1.0:0.0	.	887;887;946	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	946;887;887	ENSP00000369716:R946Q;ENSP00000350907:R887Q;ENSP00000332628:R887Q	ENSP00000332628:R887Q	R	+	2	0	CHD3	7744054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.813000	0.96785	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1	24	140	0	46	1	9.999924e-01	11	107	0	46	2		0	0	0	0	0	2	1	9.999997e-01	24	133	0	46	2								-13.351850	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999720	0.990000	1	9.900000e-01	1
CCDC40	55036	broad.mit.edu	37	17	78055849	78055849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78055849A>G	ENST00000397545.4	+	12	2008	c.1981A>G	c.(1981-1983)Acc>Gcc	p.T661A	CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40			38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		GAAGGAGAAGACCAACATGGT	0.622000																								0							SO:0001583	missense			ENST00000397545.4	1	1	hg19	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	9.233	1.036266	0.19669	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.91	4.86	4.86	0.63082	.	.	.	.	.	T	0.44582	0.1300	M	0.69823	2.125	0.32611	N	0.524658	B;B	0.16396	0.017;0.002	B;B	0.14578	0.011;0.009	T	0.51060	-0.8753	9	0.15499	T	0.54	-41.126	10.5946	0.45329	0.8386:0.1614:0.0:0.0	.	661;444	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	A	661	ENSP00000364011:T661A;ENSP00000380679:T661A	ENSP00000364011:T661A	T	+	1	0	CCDC40	75670444	0.907000	0.30839	1.000000	0.80357	0.977000	0.68977	1.387000	0.34430	1.794000	0.52575	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	1	0	1	30	157	0	28	1	2.579529e-01	2	4	0	28	2		0	0	0	0	0	2	1	1	29	152	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
CHD3	1107	broad.mit.edu	37	17	7806616	7806616	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7806616C>T	ENST00000330494.7	+	23	3672	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.G1174G|CHD3_ENST00000380358.4_Silent_p.G1233G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3			65		Prostate(122;0.202)			ATCGGATTGGCCAGGCCAACA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000330494.7	1	1	hg19	CCDS32554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1	89	317	0	95	1	1	6	108	0	95	2		0	0	0	0	1	2	1	1	87	307	1	91	15								-3.609041	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAA	2548	broad.mit.edu	37	17	78086504	78086504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78086504G>A	ENST00000302262.3	+	13	2101	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	GAA_ENST00000390015.3_Missense_Mutation_p.V628M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid			21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)	Acarbose(DB00284)|Miglitol(DB00491)	CGCCTCCTCCGTGCCAGGTGA	0.687000																								0							SO:0001583	missense			ENST00000302262.3	0	1	hg19	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733387	0.48939	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91996	-2.95;-2.95	4.97	4.97	0.65823	Glycoside hydrolase, superfamily (1);	0.121779	0.56097	D	0.000037	D	0.94518	0.8235	M	0.66506	2.035	0.33566	D	0.597962	D	0.69078	0.997	D	0.67548	0.952	D	0.96600	0.9444	10	0.87932	D	0	-29.4845	11.3082	0.49347	0.0902:0.0:0.9098:0.0	.	628	P10253	LYAG_HUMAN	M	628	ENSP00000305692:V628M;ENSP00000374665:V628M	ENSP00000305692:V628M	V	+	1	0	GAA	75701099	0.989000	0.36119	0.931000	0.37212	0.043000	0.13939	2.450000	0.44943	2.270000	0.75569	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1	0	0	0	4	82	0	9	1	9.956442e-01	5	254	0	9	2		0	0	0	0	0	2	1	8.892791e-01	4	81	0	9	2								-8.023018	1	1	120946	3	30	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.630000	0.210000	1.000000	1.000000	0.653503	0.630000	0	3.700000e-01	1
CHD3	1107	broad.mit.edu	37	17	7810694	7810694	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7810694A>G	ENST00000330494.7	+	32	4962	c.4812A>G	c.(4810-4812)ccA>ccG	p.P1604P	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.P1604P|CHD3_ENST00000380358.4_Silent_p.P1663P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3			65		Prostate(122;0.202)			GCCCAGCCCCATCACTTGGGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000330494.7	1	1	hg19	CCDS32554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	1	42	177	0	40	1	9.999999e-01	11	99	0	40	2		0	0	0	0	0	2	1	1	41	171	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4A3	9775	broad.mit.edu	37	17	78111992	78111992	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78111992G>A	ENST00000269349.3	-	8	1037	c.816C>T	c.(814-816)taC>taT	p.Y272Y		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3			10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		TCAGTGTGTCGTAGAGGTCAC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000269349.3	1	1	hg19	CCDS11767.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	1	0	0	118	464	0	113	1	1	148	393	0	113	2		0	0	0	0	0	2	1	1	118	455	0	113	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD3	1107	broad.mit.edu	37	17	7811277	7811277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7811277C>T	ENST00000330494.7	+	34	5242	c.5092C>T	c.(5092-5094)Cga>Tga	p.R1698*	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|CHD3_ENST00000380358.4_Nonsense_Mutation_p.R1757*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3			65		Prostate(122;0.202)			CAATGGGCGACGAGAGGAAAA	0.557000																								0							SO:0001587	stop_gained			ENST00000330494.7	0	1	hg19	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	45	11.358056	0.99551	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235	.	.	.	4.83	4.83	0.62350	.	0.000000	0.43416	D	0.000566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.2051	11.0777	0.48040	0.3173:0.6827:0.0:0.0	.	.	.	.	X	1757;1664;1698;26	.	ENSP00000332628:R1698X	R	+	1	2	CHD3	7752002	0.142000	0.22610	0.996000	0.52242	0.980000	0.70556	0.737000	0.26144	2.509000	0.84616	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	0	84	432	0	105	1	9.999999e-01	3	120	0	105	2		0	0	0	0	0	2	1	1	83	417	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4A3	9775	broad.mit.edu	37	17	78120716	78120716	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78120716C>T	ENST00000269349.3	-	1	266	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3			10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		TGAGCAGCCGCTTTCGCGCCG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000269349.3	1	1	hg19	CCDS11767.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	1	0	0	67	209	0	42	1	1	44	120	0	42	2		0	0	0	0	0	2	1	1	65	204	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD3	1107	broad.mit.edu	37	17	7814233	7814233	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7814233G>A	ENST00000330494.7	+	39	5973	c.5823G>A	c.(5821-5823)ggG>ggA	p.G1941G	AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_Silent_p.G1907G|CHD3_ENST00000380358.4_Silent_p.G2000G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3			65		Prostate(122;0.202)			CACCCGTAGGGGCCCTGGCCG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000330494.7	0	1	hg19	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	g	16.12	3.032915	0.54790	.	.	ENSG00000170004	ENST00000439235;ENST00000449744	.	.	.	5.27	5.27	0.74061	.	0.000000	0.43919	D	0.000514	T	0.73916	0.3648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75263	-0.3379	6	0.56958	D	0.05	-28.7992	14.888	0.70584	0.0:0.0:0.8478:0.1522	.	.	.	.	S	285;179	.	ENSP00000395252:G285S	G	+	1	0	CHD3	7754958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.149000	0.31626	2.745000	0.94114	0.604000	0.83254	GGC		TCGA-IB-7651-01A-11D-2154-08	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	1	0	0	70	1033	0	179	0	5.966325e-01	1	30	0	179	2		0	0	0	0	0	2	1	1	70	1011	0	176	2								-11.638080	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.760000	0.590000	1.000000	0.750000	0.785833	0.760000	0	6.700000e-01	9.000000e-01
CARD14	79092	broad.mit.edu	37	17	78165181	78165181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78165181C>T	ENST00000573882.1	+	10	1685	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	CARD14_ENST00000392434.2_Silent_p.D146D|CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000570421.1_Silent_p.D383D|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14			23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		TGGAGAAGGACTCCCTCCGCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000573882.1	1	1	hg19	CCDS11768.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1	1	0	0	94	396	0	64	1	4.026593e-01	3	4	0	64	2		0	0	0	0	0	2	1	1	92	389	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGSH	6448	broad.mit.edu	37	17	78184610	78184610	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78184610A>C	ENST00000326317.6	-	8	1236	c.1150T>G	c.(1150-1152)Ttc>Gtc	p.F384V	SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase			10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		ACGAGGCGGAAGTGCCGGTGC	0.637000																								0							SO:0001583	missense			ENST00000326317.6	1	1	hg19	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656211	0.29425	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.96365	-3.99;-3.99	4.45	2.23	0.28157	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.133727	0.52532	D	0.000077	D	0.95459	0.8525	M	0.72479	2.2	0.37862	D	0.929755	B	0.33964	0.434	B	0.42959	0.403	D	0.94190	0.7440	10	0.72032	D	0.01	-28.2188	7.8443	0.29417	0.823:0.0:0.177:0.0	.	384	P51688	SPHM_HUMAN	V	384;181	ENSP00000314606:F384V;ENSP00000437778:F181V	ENSP00000314606:F384V	F	-	1	0	SGSH	75799205	0.995000	0.38212	0.768000	0.31515	0.149000	0.21700	3.137000	0.50562	0.573000	0.29400	0.459000	0.35465	TTC		TCGA-IB-7651-01A-11D-2154-08	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	1	0	1	128	623	0	131	1	9.999995e-01	21	79	0	131	2		0	0	0	0	0	2	1	1	125	610	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A11	284129	broad.mit.edu	37	17	78215619	78215619	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78215619C>T	ENST00000361193.3	+	10	1315	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SLC26A11_ENST00000572725.1_Splice_Site_p.I345I|SLC26A11_ENST00000546047.2_Splice_Site_p.I345I|SLC26A11_ENST00000411502.3_Splice_Site_p.I345I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11			28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		TGCTGGCCATCGGTAAGACCC	0.552000																								0							SO:0001630	splice_region_variant			ENST00000361193.3	1	0	hg19	CCDS11771.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1	1	0	0	112	482	0	79	1	9.975162e-01	13	28	0	79	2		0	0	0	0	0	2	1	1	110	477	0	77	2								-20.000000	1	1	121412	2	38	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF213	57674	broad.mit.edu	37	17	78319448	78319448	+	Missense_Mutation	SNP	G	G	A	rs148213205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78319448G>A	ENST00000582970.1	+	29	7456	c.7313G>A	c.(7312-7314)cGt>cAt	p.R2438H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H|RNF213_ENST00000336301.6_Missense_Mutation_p.R511H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GACCTGCGGCGTGGTGGTACC	0.532000																								0							SO:0001583	missense			ENST00000582970.1	0	1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	7.345	0.621789	0.14193	4.54E-4	0.0	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.42513	0.97	5.42	4.46	0.54185	ATPase, AAA+ type, core (1);	0.199637	0.37053	N	0.002275	T	0.56601	0.1996	M	0.77103	2.36	0.23376	N	0.997806	D	0.64830	0.994	P	0.55260	0.772	T	0.54840	-0.8233	10	0.66056	D	0.02	.	11.4884	0.50367	0.1441:0.0:0.8559:0.0	.	511	Q63HN8	RN213_HUMAN	H	2438;2487;511	ENSP00000338218:R511H	ENSP00000338218:R511H	R	+	2	0	RNF213	75934043	1.000000	0.71417	0.080000	0.20451	0.044000	0.14063	3.977000	0.56874	1.524000	0.49035	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	0	0	9	492	0	109	1	5.532290e-01	7	90	0	109	2	1	9.953272e-01	17	1099	1	1035	6	1	9.938651e-01	11	482	0	109	2								-3.251074	1	0	121412	14	42	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.230000	0.100000	1.000000	0.210000	0.301995	0.230000	0	1.600000e-01	3.400000e-01
RNF213	57674	broad.mit.edu	37	17	78335544	78335544	+	Missense_Mutation	SNP	G	G	T	rs146910347		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78335544G>T	ENST00000582970.1	+	39	11354	c.11211G>T	c.(11209-11211)aaG>aaT	p.K3737N	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GACTGCCCAAGAAGTTCGTGG	0.577000																								0							SO:0001583	missense			ENST00000582970.1	1	1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288165	0.23478	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23552	1.9	5.68	-0.755	0.11061	.	1.121610	0.06565	N	0.747374	T	0.20536	0.0494	L	0.54323	1.7	0.20196	N	0.999921	B;P	0.35656	0.418;0.514	B;B	0.29716	0.083;0.106	T	0.26360	-1.0105	10	0.45353	T	0.12	.	4.8917	0.13730	0.2001:0.1043:0.5889:0.1067	.	3786;1810	C9JCP4;Q63HN8	.;RN213_HUMAN	N	3737;3786;1810	ENSP00000338218:K1810N	ENSP00000338218:K1810N	K	+	3	2	RNF213	75950139	0.950000	0.32346	0.020000	0.16555	0.005000	0.04900	1.469000	0.35343	0.026000	0.15269	-0.140000	0.14226	AAG		TCGA-IB-7651-01A-11D-2154-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	1	53	286	0	52	1	1	59	157	0	52	2	1	1	69	207	0	227	2	1	1	53	279	0	52	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF213	57674	broad.mit.edu	37	17	78337097	78337097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78337097C>T	ENST00000582970.1	+	40	11694	c.11551C>T	c.(11551-11553)Ctg>Ttg	p.L3851L	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3900L|RNF213_ENST00000336301.6_Silent_p.L1924L|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GAACCATGAGCTGGCTGGATG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000582970.1	1	1	hg19	CCDS58606.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	0	19	384	0	94	1	9.975688e-01	15	181	0	94	2	1	9.999999e-01	19	611	0	642	2	1	9.999890e-01	19	374	0	92	2								-19.501910	1	1	121412	2	35	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.580000	0.350000	1.000000	0.550000	0.616940	0.580000	0	4.500000e-01	7.700000e-01
TRAPPC1	58485	broad.mit.edu	37	17	7834371	7834371	+	Silent	SNP	G	G	A	rs150887254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7834371G>A	ENST00000303731.4	-	3	382	c.267C>T	c.(265-267)ggC>ggT	p.G89G	TRAPPC1_ENST00000540486.1_Silent_p.G89G|CNTROB_ENST00000380262.3_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|CNTROB_ENST00000563694.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000565740.1_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1			3		Prostate(122;0.173)			TGGGTCCCACGCCCAAGTCAG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000303731.4	1	1	hg19	CCDS11125.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226975.2	0	0	0	12	331	0	63	1	9.999997e-01	54	886	0	63	2		0	0	0	0	0	2	1	9.990080e-01	12	322	0	62	2								-3.260238	1	1	121412	3	36	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.440000	0.230000	1.000000	0.420000	0.500364	0.440000	0	3.200000e-01	6.400000e-01
RNF213	57674	broad.mit.edu	37	17	78346393	78346393	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78346393T>G	ENST00000582970.1	+	48	12753	c.12610T>G	c.(12610-12612)Ttc>Gtc	p.F4204V	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GGAAGGTCGTTTCCTTAAGGC	0.517000																								0							SO:0001583	missense			ENST00000582970.1	1	1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656634	0.47467	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.29	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.81239	2.535	0.35309	D	0.783728	D;D	0.89917	0.999;1.0	D;D	0.85130	0.927;0.997	T	0.62817	-0.6774	10	0.46703	T	0.11	.	11.0367	0.47804	0.0:0.0737:0.0:0.9263	.	4253;2277	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4204;4253;2277	ENSP00000338218:F2277V	ENSP00000338218:F2277V	F	+	1	0	RNF213	75960988	1.000000	0.71417	0.644000	0.29465	0.007000	0.05969	5.229000	0.65316	0.831000	0.34780	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	1	16	127	0	26	1	9.999998e-01	70	181	0	26	2	1	1	114	636	0	555	2	1	9.999509e-01	16	127	0	26	2								-19.999970	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.810000	1.000000	1.000000	0.986965	0.990000	1	9.900000e-01	1
RNF213	57674	broad.mit.edu	37	17	78348322	78348322	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78348322C>T	ENST00000582970.1	+	50	13150	c.13007C>T	c.(13006-13008)gCt>gTt	p.A4336V	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GAATACAAGGCTCTCCGTGAT	0.567000																								0							SO:0001583	missense			ENST00000582970.1	1	1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116196	0.37339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23950	1.88	4.79	2.79	0.32731	.	0.191148	0.45867	D	0.000332	T	0.21962	0.0529	L	0.57130	1.785	0.24566	N	0.993947	P;B	0.35793	0.521;0.007	B;B	0.30105	0.111;0.006	T	0.10636	-1.0621	10	0.49607	T	0.09	.	9.6309	0.39778	0.0:0.8364:0.0:0.1636	.	4385;2409	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4336;4385;2409	ENSP00000338218:A2409V	ENSP00000338218:A2409V	A	+	2	0	RNF213	75962917	0.094000	0.21725	0.281000	0.24762	0.615000	0.37417	0.431000	0.21444	0.549000	0.28973	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	0	0	12	338	0	74	1	9.972864e-01	17	269	0	74	2	1	1	52	1180	0	1178	2	1	9.990267e-01	11	331	0	72	2								-12.205430	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.430000	0.230000	1.000000	0.400000	0.483181	0.430000	0	3.100000e-01	6.100000e-01
RNF213	57674	broad.mit.edu	37	17	78363064	78363064	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78363064C>T	ENST00000582970.1	+	65	15235	c.15092C>T	c.(15091-15093)aCt>aTt	p.T5031I	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		GTAGAAGTCACTCTGGGGTTT	0.517000																								0							SO:0001583	missense			ENST00000582970.1	1	1	hg19	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	8.805	0.933888	0.18206	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22539	1.95	5.39	3.41	0.39046	.	0.444633	0.22383	N	0.060799	T	0.22859	0.0552	M	0.75447	2.3	0.09310	N	1	B;B	0.24533	0.105;0.014	B;B	0.18871	0.023;0.012	T	0.16958	-1.0385	10	0.44086	T	0.13	.	8.0358	0.30491	0.0:0.6954:0.0:0.3046	.	5031;3104	D6RI12;Q63HN8	.;RN213_HUMAN	I	5031;5080;3104;381	ENSP00000338218:T3104I	ENSP00000338218:T3104I	T	+	2	0	RNF213	75977659	0.009000	0.17119	0.050000	0.19076	0.379000	0.30106	2.150000	0.42254	0.660000	0.30964	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	1	44	240	0	66	1	1	87	278	0	66	2	1	1	223	1342	0	1521	2	1	1	43	237	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CNTROB	116840	broad.mit.edu	37	17	7840525	7840525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7840525C>T	ENST00000563694.1	+	7	1797	c.872C>T	c.(871-873)gCc>gTc	p.A291V	CNTROB_ENST00000380262.3_Missense_Mutation_p.A291V|CNTROB_ENST00000380255.3_Missense_Mutation_p.A291V|CNTROB_ENST00000565740.1_Missense_Mutation_p.A291V	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein			25		Prostate(122;0.173)			GCCATGGAGGCCCTGAATCGT	0.498000																								0							SO:0001583	missense			ENST00000563694.1	0	1	hg19	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282376	0.40394	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.64618	-0.11;0.8	5.81	5.81	0.92471	.	0.093058	0.45606	D	0.000343	T	0.68897	0.3051	L	0.29908	0.895	0.39465	D	0.967631	P;D;D;D	0.76494	0.775;0.999;0.999;0.999	B;D;D;D	0.83275	0.266;0.996;0.996;0.996	T	0.66420	-0.5928	10	0.30854	T	0.27	-13.9144	15.5789	0.76418	0.0:1.0:0.0:0.0	.	291;291;291;291	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	V	291	ENSP00000369614:A291V;ENSP00000369605:A291V	ENSP00000369605:A291V	A	+	2	0	CNTROB	7781250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	2.753000	0.94483	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	0	0	0	19	967	0	226	1	5.470535e-01	2	90	0	226	2		0	0	0	0	0	2	1	9.999888e-01	19	952	0	223	2								-2.609181	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.230000	0.140000	1.000000	0.230000	0.318912	0.230000	0	1.800000e-01	3.300000e-01
CNTROB	116840	broad.mit.edu	37	17	7846813	7846813	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7846813G>A	ENST00000563694.1	+	10	2341	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	CNTROB_ENST00000380262.3_Silent_p.R472R|CNTROB_ENST00000380255.3_Silent_p.R472R|CNTROB_ENST00000565740.1_Silent_p.R472R	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein			25		Prostate(122;0.173)			GCAGCCTACGGCAAGCAGCCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000563694.1	1	1	hg19	CCDS11126.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	1	0	1	50	255	0	34	1	9.999964e-01	42	56	0	34	2		0	0	0	0	0	2	1	1	48	251	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPTOR	57521	broad.mit.edu	37	17	78681708	78681708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78681708G>A	ENST00000306801.3	+	4	778	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1			44					TCCTTACGTCGCAACGCCAAG	0.557000																								0							SO:0001583	missense			ENST00000306801.3	1	1	hg19	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570396	0.86542	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.53857	0.61;0.6	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.77896	0.4199	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.97	T	0.81344	-0.0975	10	0.54805	T	0.06	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	139;139	F5H7J5;Q8N122	.;RPTOR_HUMAN	H	139	ENSP00000307272:R139H;ENSP00000442479:R139H	ENSP00000307272:R139H	R	+	2	0	RPTOR	76296303	1.000000	0.71417	0.151000	0.22473	0.528000	0.34623	9.713000	0.98740	2.485000	0.83878	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1	22	117	0	22	1	9.480282e-01	7	22	0	22	2		0	0	0	0	0	2	1	9.999992e-01	22	115	0	22	2								-20.000000	1	1	121410	1	27	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999822	0.990000	1	9.900000e-01	1
RPTOR	57521	broad.mit.edu	37	17	78796055	78796055	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78796055C>A	ENST00000306801.3	+	8	1307	c.945C>A	c.(943-945)atC>atA	p.I315I	RPTOR_ENST00000570891.1_Silent_p.I315I|RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I315I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1			44					TGAACTGGATCTTCACAGCCA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000306801.3	1	1	hg19	CCDS11773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1	274	1400	0	339	1	9.937569e-01	11	30	0	339	2		0	0	0	0	0	2	1	1	271	1391	0	335	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPTOR	57521	broad.mit.edu	37	17	78897351	78897351	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78897351C>T	ENST00000306801.3	+	23	3048	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1			44					GGCCAAGCAGCCGGTCAGCCG	0.652000																								0							SO:0001583	missense			ENST00000306801.3	1	1	hg19	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434890	0.62955	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.44881	0.96;0.91	5.02	4.03	0.46877	.	0.066605	0.64402	D	0.000011	T	0.55784	0.1942	L	0.53249	1.67	0.80722	D	1	D;P	0.67145	0.996;0.664	D;B	0.78314	0.991;0.217	T	0.50566	-0.8813	10	0.15952	T	0.53	.	14.3152	0.66446	0.1543:0.8457:0.0:0.0	.	738;896	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	896;738	ENSP00000307272:P896S;ENSP00000442479:P738S	ENSP00000307272:P896S	P	+	1	0	RPTOR	76511946	1.000000	0.71417	0.992000	0.48379	0.780000	0.44128	4.334000	0.59291	1.033000	0.39918	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1	37	264	0	51	1	8.710675e-01	7	21	0	51	2		0	0	0	0	0	2	1	1	37	259	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999421	0.990000	1	9.900000e-01	1
RPTOR	57521	broad.mit.edu	37	17	78923309	78923309	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78923309C>T	ENST00000306801.3	+	28	3694	c.3332C>T	c.(3331-3333)gCg>gTg	p.A1111V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1			44					ATGGTGACCGCGTGGCAGGGG	0.612000																								0							SO:0001583	missense			ENST00000306801.3	1	1	hg19	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157797	0.94686	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.26660	1.72;1.72	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.71184	0.972;0.46	T	0.65751	-0.6092	10	0.56958	D	0.05	.	17.552	0.87879	0.0:1.0:0.0:0.0	.	953;1111	F5H7J5;Q8N122	.;RPTOR_HUMAN	V	1111;953	ENSP00000307272:A1111V;ENSP00000442479:A953V	ENSP00000307272:A1111V	A	+	2	0	RPTOR	76537904	1.000000	0.71417	0.057000	0.19452	0.959000	0.62525	7.353000	0.79414	2.145000	0.66743	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	1	197	916	0	208	1	9.999809e-01	14	58	0	208	2		0	0	0	0	0	2	1	1	193	902	0	207	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPTOR	57521	broad.mit.edu	37	17	78933943	78933943	+	Silent	SNP	C	C	T	rs138030342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78933943C>T	ENST00000306801.3	+	30	3905	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	CTD-2561B21.3_ENST00000571591.1_RNA|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I1023I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1			44					GCTCACTCATCGTGGCTGGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000306801.3	1	1	hg19	CCDS11773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	1	0	0	40	305	0	65	1	9.963743e-01	10	58	0	65	2		0	0	0	0	0	2	1	1	40	299	0	64	2								-20.000000	1	1	121408	2	34	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998870	0.990000	1	9.900000e-01	1
BAIAP2	10458	broad.mit.edu	37	17	79059520	79059520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79059520C>A	ENST00000321300.6	+	5	439	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2			18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		CTCCAGGTATCTGAGTGTAAG	0.597000																								0							SO:0001583	missense			ENST00000321300.6	1	1	hg19	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125868	0.20959	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.76	4.01	4.01	0.46588	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.64402	D	0.000003	T	0.45034	0.1322	N	0.16862	0.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.979;0.974;1.0;1.0;0.979	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.942;0.921;1.0;1.0;0.942	T	0.24512	-1.0158	10	0.11182	T	0.66	-36.3918	15.94	0.79747	0.0:1.0:0.0:0.0	.	38;117;116;116;116;116;116;116	F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;BAIP2_HUMAN;.;.;.;.;.	M	116;116;116;116;38	ENSP00000316338:L116M;ENSP00000401022:L116M;ENSP00000413069:L116M;ENSP00000315685:L116M;ENSP00000376211:L38M	ENSP00000315685:L116M	L	+	1	2	BAIAP2	76674115	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	2.725000	0.47294	2.066000	0.61787	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1	1	0	1	41	228	0	53	1	9.999957e-01	44	63	0	53	2		0	0	0	0	0	2	1	1	41	224	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
BAIAP2	10458	broad.mit.edu	37	17	79073803	79073803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79073803G>T	ENST00000321300.6	+	7	658	c.565G>T	c.(565-567)Gag>Tag	p.E189*	BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2			18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		CGCACTGACAGAGGAGCGCAG	0.622000																								0							SO:0001587	stop_gained			ENST00000321300.6	0	1	hg19	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220483	0.79464	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.374	18.6597	0.91468	0.0:0.0:1.0:0.0	.	.	.	.	X	189;189;189;189;111;52	.	ENSP00000315685:E189X	E	+	1	0	BAIAP2	76688398	1.000000	0.71417	0.955000	0.39395	0.411000	0.31082	9.274000	0.95731	2.401000	0.81631	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1	0	0	0	15	430	0	86	0	8.054009e-01	0	89	0	86	2		0	0	0	0	0	2	1	9.998674e-01	15	426	0	86	2								-3.357740	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.420000	0.230000	1.000000	0.400000	0.472126	0.420000	0	3.100000e-01	5.700000e-01
BAIAP2	10458	broad.mit.edu	37	17	79077823	79077823	+	Silent	SNP	G	G	A	rs148408272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79077823G>A	ENST00000321300.6	+	9	1074	c.981G>A	c.(979-981)ccG>ccA	p.P327P	BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000575712.1_Silent_p.P327P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000416299.2_Silent_p.P190P|BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000321280.7_Silent_p.P327P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2			18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		TGTCTCCTCCGCAGTCTCAGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000321300.6	1	1	hg19	CCDS11775.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1	1	0	1	83	380	0	104	1	9.999999e-01	38	69	0	104	2		0	0	0	0	0	2	1	1	82	374	0	103	2								-20.000000	1	1	121394	4	42	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AATK	9625	broad.mit.edu	37	17	79094040	79094040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094040C>T	ENST00000326724.4	-	11	3720	c.3696G>A	c.(3694-3696)gtG>gtA	p.V1232V	AATK_ENST00000417379.1_Silent_p.V1129V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase			21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		CGAAGAAGGACACGGCCTTCT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000326724.4	1	1	hg19	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270195	0.23221	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.98	0.325	0.15903	.	.	.	.	.	T	0.51058	0.1652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	.	5.1513	0.15011	0.1341:0.5377:0.2393:0.0889	.	.	.	.	Y	1185	.	.	C	-	2	0	AATK	76708635	0.996000	0.38824	0.998000	0.56505	0.881000	0.50899	0.446000	0.21694	0.305000	0.22832	0.313000	0.20887	TGT		TCGA-IB-7651-01A-11D-2154-08	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	1	0	1	23	173	0	39	1	9.793646e-01	18	32	0	39	2		0	0	0	0	0	2	1	9.999996e-01	23	172	0	39	2								-20.000000	1	1	120424	1	24	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.920000	1.000000	1.000000	0.995686	0.990000	1	9.900000e-01	1
AATK	9625	broad.mit.edu	37	17	79094443	79094443	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094443G>T	ENST00000326724.4	-	11	3317	c.3293C>A	c.(3292-3294)tCc>tAc	p.S1098Y	AATK_ENST00000417379.1_Missense_Mutation_p.S995Y	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase			21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		GAAAAACTGGGAGCAGCTGGG	0.682000																								0							SO:0001583	missense			ENST00000326724.4	0	1	hg19	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291234|3.291234	0.59976|0.59976	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.79940	.|-1.32	4.54|4.54	3.56|3.56	0.40772|0.40772	.|.	.|1.012940	.|0.07905	.|N	.|0.973247	T|T	0.71443|0.71443	0.3340|0.3340	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.50528	.|0.936	.|B	.|0.43225	.|0.412	T|T	0.63945|0.63945	-0.6522|-0.6522	5|10	.|0.72032	.|D	.|0.01	.|.	4.491|4.491	0.11813|0.11813	0.0901:0.1521:0.6013:0.1564|0.0901:0.1521:0.6013:0.1564	.|.	.|1098	.|Q6ZMQ8	.|LMTK1_HUMAN	T|Y	1051|1098	.|ENSP00000324196:S1098Y	.|ENSP00000324196:S1098Y	P|S	-|-	1|2	0|0	AATK|AATK	76709038|76709038	0.005000|0.005000	0.15991|0.15991	0.026000|0.026000	0.17262|0.17262	0.563000|0.563000	0.35712|0.35712	0.421000|0.421000	0.21280|0.21280	2.072000|2.072000	0.62099|0.62099	0.297000|0.297000	0.19635|0.19635	CCC|TCC		TCGA-IB-7651-01A-11D-2154-08	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	1	0	1	11	47	0	11	1	9.236084e-01	12	10	0	11	2		0	0	0	0	0	2	1	9.986340e-01	11	45	0	11	2								-19.983970	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998851	0.990000	1	9.900000e-01	1
AZI1	0	broad.mit.edu	37	17	79166137	79166137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79166137G>A	ENST00000269392.4	-	21	2859	c.2612C>T	c.(2611-2613)gCc>gTc	p.A871V	AZI1_ENST00000575907.1_Missense_Mutation_p.A835V|AZI1_ENST00000374782.3_Missense_Mutation_p.A832V|AZI1_ENST00000450824.2_Missense_Mutation_p.A868V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN				36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		GGTGCGGCCGGCCTCCCACGC	0.701000																								0							SO:0001583	missense			ENST00000269392.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.52	2.559498	0.45590	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16196	2.36;2.42;2.36	3.17	3.17	0.36434	.	0.186862	0.37012	N	0.002296	T	0.32585	0.0834	L	0.57536	1.79	0.39189	D	0.962925	D;D;D;D	0.76494	0.999;0.999;0.99;0.998	D;D;P;D	0.77557	0.99;0.98;0.844;0.938	T	0.06607	-1.0817	10	0.32370	T	0.25	-16.9678	10.2912	0.43596	0.0:0.0:0.8026:0.1974	.	868;871;832;868	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	V	868;832;871	ENSP00000393583:A868V;ENSP00000363914:A832V;ENSP00000269392:A871V	ENSP00000269392:A871V	A	-	2	0	AZI1	76780732	1.000000	0.71417	0.897000	0.35233	0.597000	0.36814	6.281000	0.72632	1.780000	0.52325	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1	1	0	0	10	42	0	8	1	9.614116e-01	9	18	0	8	2		0	0	0	0	0	2	1	9.975968e-01	10	41	0	8	2								-19.764030	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.998424	0.990000	1	9.900000e-01	1
AZI1	0	broad.mit.edu	37	17	79181033	79181033	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79181033C>T	ENST00000269392.4	-	4	526	c.279G>A	c.(277-279)acG>acA	p.T93T	AZI1_ENST00000575907.1_Silent_p.T93T|AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000450824.2_Silent_p.T93T	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN				36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		CTGTGGGCTCCGTTGGCCTGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000269392.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1	1	0	0	39	172	0	51	1	9.160578e-01	5	16	0	51	2		0	0	0	0	0	2	1	1	39	168	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A10	124565	broad.mit.edu	37	17	79219815	79219815	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79219815G>A	ENST00000374759.3	-	16	3284	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10			23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		CACCCTGCTCGCCATCAGAGA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000374759.3	1	1	hg19	CCDS42397.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	1	0	1	70	268	0	74	1	1	28	229	0	74	2		0	0	0	0	0	2	1	1	70	265	0	72	2								-3.771492	1	1	120272	1	30	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A10	124565	broad.mit.edu	37	17	79226464	79226464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79226464G>A	ENST00000374759.3	-	13	1859	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SLC38A10_ENST00000288439.5_Silent_p.G492G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10			23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		GGTGGGCCTCGCCCACAGGCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000374759.3	1	1	hg19	CCDS42397.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	1	0	0	73	326	0	56	1	1	26	306	0	56	2		0	0	0	0	0	2	1	1	73	316	0	54	2								-3.244785	1	1	121362	9	39	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A10	124565	broad.mit.edu	37	17	79257209	79257209	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79257209C>A	ENST00000374759.3	-	4	740	c.357G>T	c.(355-357)caG>caT	p.Q119H	SLC38A10_ENST00000288439.5_Splice_Site_p.Q119H|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10			23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		ACATCCTTACCTGAAACCCGA	0.602000																								0							SO:0001630	splice_region_variant			ENST00000374759.3	1	0	hg19	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773057	0.90108	.	.	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T	0.10573	3.02;2.86	4.76	4.76	0.60689	.	5.897720	0.00166	N	0.000019	T	0.32912	0.0845	L	0.48642	1.525	0.80722	D	1	P;D	0.56968	0.942;0.978	P;D	0.63703	0.693;0.917	T	0.01613	-1.1312	9	.	.	.	-14.5591	18.1105	0.89534	0.0:1.0:0.0:0.0	.	119;119	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	H	119;119;71	ENSP00000363891:Q119H;ENSP00000288439:Q119H	.	Q	-	3	2	SLC38A10	76871804	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.103000	0.77014	2.334000	0.79466	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	1	0	1	18	90	0	33	1	1	8	261	0	33	2		0	0	0	0	0	2	1	9.999880e-01	18	88	0	33	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999704	0.990000	1	9.900000e-01	1
C17orf70	80233	broad.mit.edu	37	17	79512857	79512857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79512857G>A	ENST00000327787.8	-	6	2271	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V|C17orf70_ENST00000537152.1_Missense_Mutation_p.A591V			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70			19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		GACGTCCACAGCAGCATTCTC	0.637000																								0							SO:0001583	missense			ENST00000327787.8	0	1	hg19	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	9.031	0.987306	0.18889	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.33865	1.39;1.39;1.39	4.56	0.971	0.19698	.	0.342070	0.24379	N	0.039031	T	0.25827	0.0629	L	0.57536	1.79	0.09310	N	1	P;P	0.36909	0.573;0.573	B;B	0.32677	0.107;0.15	T	0.19976	-1.0289	10	0.59425	D	0.04	.	2.7171	0.05190	0.4037:0.0:0.3887:0.2076	.	742;391	Q0VG06;E7EVV8	FP100_HUMAN;.	V	742;391;115;591	ENSP00000333283:A742V;ENSP00000399674:A391V;ENSP00000440151:A591V	ENSP00000333283:A742V	A	-	2	0	C17orf70	77123310	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.346000	0.07760	0.369000	0.24510	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	1	0	1	21	156	0	23	1	9.974420e-01	20	54	0	23	2		0	0	0	0	0	2	1	9.999982e-01	21	154	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.910000	1.000000	1.000000	0.995237	0.990000	1	9.900000e-01	1
C17orf70	80233	broad.mit.edu	37	17	79514338	79514338	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79514338G>T	ENST00000327787.8	-	5	1816	c.1770C>A	c.(1768-1770)ggC>ggA	p.G590G	C17orf70_ENST00000425898.2_Silent_p.G239G|C17orf70_ENST00000537152.1_Silent_p.G439G			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70			19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		GGTCGAGCCCGCCGTTCTCAC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000327787.8	1	1	hg19	CCDS32765.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	1	0	1	92	315	0	50	1	1	22	66	0	50	2		0	0	0	0	0	2	1	1	89	266	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSPAN10	83882	broad.mit.edu	37	17	79612028	79612028	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79612028G>T	ENST00000572675.1	+	0	47				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10			1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		GAAACTGCAGGCCAGAAGCCC	0.642000																								0											ENST00000572675.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	14.24	2.476551	0.44044	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.07444	3.19	4.3	1.18	0.20946	.	0.989793	0.08168	U	0.987521	T	0.07954	0.0199	N	0.24115	0.695	0.09310	N	1	P;P	0.44877	0.845;0.845	B;B	0.44278	0.445;0.347	T	0.37934	-0.9684	10	0.87932	D	0	-0.276	7.1517	0.25614	0.295:0.0:0.705:0.0	.	16;16	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	V	16	ENSP00000331620:G16V	ENSP00000331620:G16V	G	+	2	0	TSPAN10	77222433	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.530000	0.23036	0.118000	0.18165	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	0	0	1	42	214	0	45	0	0	1	0	0	45	2		0	0	0	0	0	2	1	1	41	208	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CCDC137	339230	broad.mit.edu	37	17	79637483	79637483	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79637483C>T	ENST00000329214.8	+	3	900	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137			12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		GCAAAAAAAGCGTGAGTGGAG	0.597000																								0							SO:0001630	splice_region_variant			ENST00000329214.8	1	0	hg19	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442249	0.25987	.	.	ENSG00000185298	ENST00000329214	D	0.90324	-2.65	4.53	1.29	0.21616	.	0.721738	0.13152	N	0.409835	T	0.76350	0.3975	N	0.12182	0.205	0.30472	N	0.773231	B	0.17465	0.022	B	0.08055	0.003	T	0.66799	-0.5832	10	0.34782	T	0.22	-9.089	1.3508	0.02172	0.1734:0.4604:0.1681:0.198	.	166	Q6PK04	CC137_HUMAN	V	166	ENSP00000329360:A166V	ENSP00000329360:A166V	A	+	2	0	CCDC137	77247888	0.999000	0.42202	0.998000	0.56505	0.896000	0.52359	0.270000	0.18607	1.103000	0.41568	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1	1	0	1	24	113	0	25	1	9.999904e-01	13	82	0	25	2		0	0	0	0	0	2	1	9.999998e-01	24	109	0	25	2								-20.000000	1	1	120654	3	29	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
HGS	9146	broad.mit.edu	37	17	79662228	79662228	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79662228C>A	ENST00000329138.4	+	14	1289	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate			12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		CAGCCCATTCCTCCCTCTGGT	0.637000																								0							SO:0001583	missense			ENST00000329138.4	1	1	hg19	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191329	0.21954	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38240	1.15	3.87	2.89	0.33648	.	1.405290	0.04662	N	0.409156	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.25291	0.059	T	0.24835	-1.0149	10	0.49607	T	0.09	-0.052	2.7002	0.05146	0.191:0.5197:0.1848:0.1044	.	385	O14964	HGS_HUMAN	H	385	ENSP00000331201:P385H	ENSP00000331201:P385H	P	+	2	0	HGS	77272633	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	0.759000	0.26461	0.806000	0.34183	0.313000	0.20887	CCT		TCGA-IB-7651-01A-11D-2154-08	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	1	0	1	112	430	0	84	1	1	40	98	0	84	2		0	0	0	0	0	2	1	1	112	423	0	83	2								-3.618153	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HGS	9146	broad.mit.edu	37	17	79667816	79667816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79667816C>T	ENST00000329138.4	+	20	2243	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	SLC25A10_ENST00000571730.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate			12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		CAGTCAGTCTCCATGGGCTAC	0.642000																								0							SO:0001583	missense			ENST00000329138.4	1	1	hg19	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487308	0.84854	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39997	1.05	4.49	4.49	0.54785	.	0.120001	0.34906	U	0.003594	T	0.33962	0.0881	N	0.19112	0.55	0.38773	D	0.95459	P	0.35923	0.528	B	0.39299	0.296	T	0.40117	-0.9580	10	0.51188	T	0.08	-22.7626	16.3251	0.82977	0.0:1.0:0.0:0.0	.	703	O14964	HGS_HUMAN	F	703;617	ENSP00000331201:S703F	ENSP00000331201:S703F	S	+	2	0	HGS	77278221	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	3.762000	0.55250	2.302000	0.77476	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	1	0	1	63	220	0	47	1	1	51	131	0	47	2		0	0	0	0	0	2	1	1	63	219	0	46	2								-3.871617	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALOX12B	242	broad.mit.edu	37	17	7976504	7976504	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7976504G>A	ENST00000319144.4	-	14	2148	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type			16					CAGAGCACCAGCAGCGTGATG	0.627000										Multiple Myeloma(8;0.094)														0							SO:0001819	synonymous_variant			ENST00000319144.4	1	1	hg19	CCDS11129.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3	1	0	1	195	810	0	210	1	9.918865e-02	2	1	0	210	2		0	0	0	0	0	2	1	1	193	794	0	209	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALOX12B	242	broad.mit.edu	37	17	7978974	7978974	+	Silent	SNP	C	C	A	rs149967531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7978974C>A	ENST00000319144.4	-	12	1853	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type			16					ACTGCAATTCCGGATCACCCT	0.582000										Multiple Myeloma(8;0.094)														0							SO:0001819	synonymous_variant			ENST00000319144.4	1	1	hg19	CCDS11129.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3	1	0	1	218	991	0	265		0	0	0	0	265	2		0	0	0	0	0	2	1	1	216	963	0	261	2								-3.162371	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGDIA	396	broad.mit.edu	37	17	79827105	79827105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79827105C>T	ENST00000269321.7	-	5	494	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q|RP11-498C9.3_ENST00000576554.1_RNA|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha			3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		CACTATCTCTCGGTTAACCTG	0.642000																								0							SO:0001583	missense			ENST00000269321.7	1	1	hg19	CCDS11788.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235195	0.39498	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.45	0.151	0.14888	Immunoglobulin E-set (1);	0.288011	0.33161	N	0.005205	T	0.25938	0.0632	L	0.54323	1.7	0.26686	N	0.971459	B;B;P	0.43938	0.036;0.078;0.822	B;B;B	0.34138	0.064;0.094;0.176	T	0.19224	-1.0312	9	0.59425	D	0.04	-9.8482	8.7674	0.34711	0.0:0.5049:0.0:0.4951	.	120;120;120	A8MXW0;B4DUV9;P52565	.;.;GDIR1_HUMAN	Q	120	.	ENSP00000269321:R120Q	R	-	2	0	ARHGDIA	77420394	0.851000	0.29673	0.081000	0.20488	0.379000	0.30106	1.371000	0.34250	0.159000	0.19401	0.467000	0.42956	CGA		TCGA-IB-7651-01A-11D-2154-08	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	1	0	1	64	260	0	69	1	1	289	787	0	69	2		0	0	0	0	0	2	1	1	64	253	0	69	2								-3.601023	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALOX12B	242	broad.mit.edu	37	17	7984225	7984225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7984225C>T	ENST00000319144.4	-	4	764	c.504G>A	c.(502-504)agG>agA	p.R168R	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type			16					GGTTGCGATGCCTCCGCACCG	0.652000										Multiple Myeloma(8;0.094)														0							SO:0001819	synonymous_variant			ENST00000319144.4	1	1	hg19	CCDS11129.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3	1	0	0	35	644	0	104	0	0	0	1	0	104	2		0	0	0	0	0	2	1	1	35	629	0	104	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.620000	0.430000	1.000000	0.600000	0.663669	0.620000	0	5.200000e-01	7.900000e-01
PYCR1	5831	broad.mit.edu	37	17	79892866	79892866	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79892866C>A	ENST00000329875.8	-	4	540	c.476G>T	c.(475-477)tGc>tTc	p.C159F	PYCR1_ENST00000337943.5_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F|PYCR1_ENST00000577756.1_Missense_Mutation_p.C159F	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1			5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)	L-Proline(DB00172)	CACCTCCGTGCAGAAGCCCAC	0.697000																								0							SO:0001583	missense			ENST00000329875.8	1	1	hg19	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360369	0.82353	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.13	4.13	0.48395	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.64630	1.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.985;0.997;0.998;0.997;0.998;0.982;0.999	T	0.80412	-0.1393	10	0.87932	D	0	.	16.0278	0.80555	0.0:1.0:0.0:0.0	.	131;186;159;159;159;159;159	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	F	159;159;159;186;131	ENSP00000336579:C159F;ENSP00000328858:C159F;ENSP00000385483:C159F;ENSP00000384949:C186F	ENSP00000328858:C159F	C	-	2	0	PYCR1	77486157	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.594000	0.82698	1.866000	0.54105	0.555000	0.69702	TGC		TCGA-IB-7651-01A-11D-2154-08	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1	1	0	1	33	206	0	46	1	1	165	278	0	46	2		0	0	0	0	0	2	1	1	32	204	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999858	0.990000	1	9.900000e-01	1
RAC3	5881	broad.mit.edu	37	17	79990867	79990867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79990867C>T	ENST00000306897.4	+	4	408	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)			3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		CGGCCTCCTTCGAGAATGTTC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000306897.4	1	1	hg19	CCDS11798.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1	1	0	0	137	562	0	119	1	9.999999e-01	27	65	0	119	2		0	0	0	0	0	2	1	1	136	556	0	118	2								-3.451116	1	1	121390	9	43	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPS1	2873	broad.mit.edu	37	17	80012478	80012478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80012478C>T	ENST00000306823.6	+	4	436	c.413C>T	c.(412-414)gCg>gTg	p.A138V	GPS1_ENST00000355130.2_Missense_Mutation_p.A174V|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.A174V|GPS1_ENST00000320548.4_Missense_Mutation_p.A118V|GPS1_ENST00000578552.1_Missense_Mutation_p.A134V			Q13098	CSN1_HUMAN	G protein pathway suppressor 1			13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		CGGAAGAAGGCGCTGCTGAAG	0.652000																								0							SO:0001583	missense			ENST00000306823.6	1	1	hg19	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830480	0.50845	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	.	.	.	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;1.0;0.993;1.0;1.0	P;D;D;P;D;D	0.74348	0.74;0.983;0.981;0.622;0.982;0.97	T	0.70641	-0.4816	9	0.26408	T	0.33	-27.5226	15.9283	0.79639	0.0:1.0:0.0:0.0	.	130;174;123;134;138;174	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	V	174;124;138;174;59	.	ENSP00000302873:A138V	A	+	2	0	GPS1	77605767	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	6.989000	0.76219	1.981000	0.57761	0.313000	0.20887	GCG		TCGA-IB-7651-01A-11D-2154-08	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	1	0	1	26	91	0	20	1	1	59	174	0	20	2		0	0	0	0	0	2	1	1	26	90	0	19	2								-20.000000	1	1	120922	1	31	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DUS1L	64118	broad.mit.edu	37	17	80019817	80019817	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80019817G>T	ENST00000354321.7	-	5	1038	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)			6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		GCACCCGACAGGGGCCCCTTC	0.657000																								0							SO:0001583	missense			ENST00000354321.7	1	1	hg19	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072704	0.20147	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.29655	1.56;1.56;1.56	4.08	-1.31	0.09230	Aldolase-type TIM barrel (1);	0.288040	0.33650	N	0.004681	T	0.26629	0.0651	M	0.65498	2.005	0.38905	D	0.957412	B;B;B	0.28760	0.058;0.005;0.221	B;B;B	0.33846	0.171;0.09;0.152	T	0.03739	-1.1008	10	0.34782	T	0.22	-10.5432	4.7951	0.13269	0.2839:0.0:0.5745:0.1416	.	58;185;54	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	M	185;185;58;53	ENSP00000346280:L185M;ENSP00000303515:L185M;ENSP00000445110:L53M	ENSP00000303515:L185M	L	-	1	2	DUS1L	77613106	0.953000	0.32496	0.350000	0.25708	0.706000	0.40770	1.464000	0.35288	-0.360000	0.08138	0.551000	0.68910	CTG		TCGA-IB-7651-01A-11D-2154-08	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	1	0	1	88	574	0	145	1	1	98	157	0	145	2		0	0	0	0	0	2	1	1	87	559	0	144	2								-2.920855	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUS1L	64118	broad.mit.edu	37	17	80021381	80021381	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80021381G>T	ENST00000354321.7	-	3	845	c.360C>A	c.(358-360)gcC>gcA	p.A120A	DUS1L_ENST00000306796.5_Silent_p.A120A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)			6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		CCTGCAGAAAGGCGCCATAGT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000354321.7	1	1	hg19	CCDS32775.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	1	0	0	72	800	0	173	1	1	45	222	0	173	2		0	0	0	0	0	2	1	1	67	795	0	171	2								-16.685660	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.770000	1.000000	1.000000	0.953227	0.990000	1	8.700000e-01	1
FASN	2194	broad.mit.edu	37	17	80037394	80037394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80037394G>A	ENST00000306749.2	-	42	7455	c.7237C>T	c.(7237-7239)Cgc>Tgc	p.R2413C	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	AGCTCCTGGCGGTCCAGGCCC	0.637000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001583	missense			ENST00000306749.2	1	1	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484493	0.63962	.	.	ENSG00000169710	ENST00000306749	T	0.27402	1.67	4.16	2.13	0.27403	Fatty acid synthase, domain 2 (1);Thioesterase (1);	0.618907	0.15836	N	0.242275	T	0.48059	0.1479	M	0.70842	2.15	0.47994	D	0.999565	D	0.76494	0.999	P	0.61477	0.889	T	0.46442	-0.9191	10	0.66056	D	0.02	-12.1525	10.2149	0.43162	0.166:0.0:0.834:0.0	.	2413	P49327	FAS_HUMAN	C	2413	ENSP00000304592:R2413C	ENSP00000304592:R2413C	R	-	1	0	FASN	77630683	1.000000	0.71417	0.410000	0.26471	0.899000	0.52679	4.264000	0.58859	0.500000	0.27991	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1	86	369	0	56	1	1	70	153	0	56	2		0	0	0	0	0	2	1	1	87	364	0	54	2								-3.071999	1	1	121182	1	28	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80038697	80038697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80038697G>A	ENST00000306749.2	-	39	6915	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	GAGTTGAGCCGCATCAGGGTG	0.677000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001583	missense			ENST00000306749.2	1	1	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798163	0.50208	.	.	ENSG00000169710	ENST00000306749	T	0.28666	1.6	4.8	2.71	0.32032	.	0.483859	0.20406	N	0.092959	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	P	0.52343	0.696	T	0.12192	-1.0557	10	0.72032	D	0.01	-30.9607	11.7206	0.51680	0.0:0.0:0.5351:0.4649	.	2233	P49327	FAS_HUMAN	W	2233	ENSP00000304592:R2233W	ENSP00000304592:R2233W	R	-	1	2	FASN	77631986	0.160000	0.22878	0.011000	0.14972	0.381000	0.30169	2.858000	0.48356	0.565000	0.29255	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1	15	76	0	20	1	9.999992e-01	41	110	0	20	2		0	0	0	0	0	2	1	9.999270e-01	16	76	0	20	2								-20.000000	1	1	120452	1	23	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999240	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80039046	80039046	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039046C>T	ENST00000306749.2	-	38	6807	c.6589G>A	c.(6589-6591)Gcc>Acc	p.A2197T	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	GCACCGCTGGCCTCATCCGCC	0.687000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001583	missense			ENST00000306749.2	0	0	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	8.546	0.874287	0.17395	.	.	ENSG00000169710	ENST00000306749	T	0.26518	1.73	4.21	0.496	0.16896	Acyl carrier protein-like (1);	0.878830	0.09949	N	0.734967	T	0.10465	0.0256	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.33879	-0.9851	10	0.23891	T	0.37	-6.7644	3.1731	0.06559	0.3071:0.453:0.1513:0.0886	.	2197	P49327	FAS_HUMAN	T	2197	ENSP00000304592:A2197T	ENSP00000304592:A2197T	A	-	1	0	FASN	77632335	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	0.079000	0.14782	0.282000	0.22254	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1	8	43	0	10	1	9.999259e-01	52	73	0	10	2		0	0	0	0	0	2	1	9.913759e-01	8	43	0	10	2								-16.069830	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.860000	1.000000	1.000000	0.992063	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80039892	80039892	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039892G>A	ENST00000306749.2	-	36	6374	c.6156C>T	c.(6154-6156)ggC>ggT	p.G2052G	FASN_ENST00000579758.1_Splice_Site	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	CACCTGGGAGGCCTTCGTGCC	0.677000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001819	synonymous_variant			ENST00000306749.2	1	1	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562789	0.45694	.	.	ENSG00000169710	ENST00000545909	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.66218	0.2767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69669	-0.5083	5	0.87932	D	0	-30.5223	9.672	0.40017	0.0:0.1316:0.6472:0.2212	.	.	.	.	V	813	.	ENSP00000438053:A813V	A	-	2	0	FASN	77633181	0.998000	0.40836	1.000000	0.80357	0.642000	0.38348	0.189000	0.17037	2.187000	0.69744	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	0	0	0	48	189	0	41	1	1	37	99	0	41	2		0	0	0	0	0	2	1	1	46	183	0	40	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80039903	80039903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039903G>A	ENST00000306749.2	-	36	6363	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	CCTTCGTGCCGGCGTTTCTCA	0.657000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001583	missense			ENST00000306749.2	1	1	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759417	0.49468	.	.	ENSG00000169710	ENST00000306749	T	0.48522	0.81	4.77	-0.811	0.10857	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.332110	0.26642	N	0.023248	T	0.69913	0.3164	M	0.91354	3.2	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.69548	-0.5116	10	0.59425	D	0.04	-29.0112	15.7178	0.77681	0.0:0.0:0.4513:0.5487	.	2049	P49327	FAS_HUMAN	W	2049	ENSP00000304592:R2049W	ENSP00000304592:R2049W	R	-	1	2	FASN	77633192	0.011000	0.17503	0.515000	0.27774	0.624000	0.37722	1.416000	0.34759	0.039000	0.15632	0.313000	0.20887	CGG		TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	0	57	218	0	47	1	1	30	88	0	47	2		0	0	0	0	0	2	1	1	55	211	0	46	2								-20.000000	1	0	121144	3	36	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80042511	80042511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80042511G>A	ENST00000306749.2	-	27	4864	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	GCGCAGCGAGGAGCAGACCCA	0.657000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001583	missense			ENST00000306749.2	0	1	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249919	0.80024	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29142	1.58	4.35	4.35	0.52113	Polyketide synthase, enoylreductase (1);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61431	-0.7064	10	0.87932	D	0	-28.1803	16.8449	0.85978	0.0:0.0:1.0:0.0	.	1549	P49327	FAS_HUMAN	F	1549;514	ENSP00000304592:S1549F	ENSP00000304592:S1549F	S	-	2	0	FASN	77635800	1.000000	0.71417	0.913000	0.36048	0.779000	0.44077	9.112000	0.94314	1.964000	0.57103	0.313000	0.20887	TCC		TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1	8	54	0	13	1	9.999872e-01	24	177	0	13	2		0	0	0	0	0	2	1	9.903692e-01	8	53	0	13	2								-15.111670	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.740000	1.000000	1.000000	0.981859	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80045103	80045103	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045103G>T	ENST00000306749.2	-	21	3468	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	GTGACCCTCAGCCACCTGCTC	0.687000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001583	missense			ENST00000306749.2	0	1	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733574	0.48939	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.27890	1.64	3.19	2.09	0.27110	.	0.083165	0.47093	D	0.000253	T	0.44746	0.1308	M	0.80183	2.485	0.42971	D	0.994435	D	0.56287	0.975	P	0.56163	0.793	T	0.44483	-0.9325	10	0.45353	T	0.12	-11.5452	7.486	0.27432	0.2453:0.0:0.7547:0.0	.	1084	P49327	FAS_HUMAN	M	1084;49	ENSP00000304592:L1084M	ENSP00000304592:L1084M	L	-	1	2	FASN	77638392	0.882000	0.30256	0.025000	0.17156	0.005000	0.04900	1.371000	0.34250	1.628000	0.50416	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	0	14	65	0	13	1	9.999843e-01	23	82	0	13	2		0	0	0	0	0	2	1	9.998343e-01	13	65	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999395	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80045873	80045873	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045873G>A	ENST00000306749.2	-	18	3041	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	CGAAGGCACGGGAGGCCTCCA	0.687000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001819	synonymous_variant			ENST00000306749.2	1	1	hg19	CCDS11801.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1	117	404	0	79	1	1	38	54	0	79	2		0	0	0	0	0	2	1	1	116	396	0	77	2								-20.000000	1	1	121076	2	35	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80047259	80047259	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80047259G>A	ENST00000306749.2	-	13	2185	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	AAACACCGGGGCCTGGACATC	0.637000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001630	splice_region_variant			ENST00000306749.2	1	0	hg19	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442750	0.43326	.	.	ENSG00000169710	ENST00000306749	T	0.46063	0.88	3.61	2.62	0.31277	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.134441	0.48286	D	0.000182	T	0.40956	0.1138	M	0.71206	2.165	0.33081	D	0.536584	P	0.49559	0.925	P	0.45037	0.467	T	0.53422	-0.8441	10	0.31617	T	0.26	-17.289	7.0309	0.24967	0.0:0.1538:0.5935:0.2526	.	656	P49327	FAS_HUMAN	V	656	ENSP00000304592:A656V	ENSP00000304592:A656V	A	-	2	0	FASN	77640548	0.874000	0.30092	0.302000	0.25058	0.007000	0.05969	1.180000	0.32005	0.812000	0.34326	-0.467000	0.05162	GCC		TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	1	74	305	0	55	1	9.999995e-01	23	67	0	55	2		0	0	0	0	0	2	1	1	72	300	0	54	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASN	2194	broad.mit.edu	37	17	80050687	80050687	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80050687G>A	ENST00000306749.2	-	7	998	c.780C>T	c.(778-780)ggC>ggT	p.G260G		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	GGAAGGTCACGCCTGCGGAGG	0.667000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001630	splice_region_variant			ENST00000306749.2	1	0	hg19	CCDS11801.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	0	17	52	0	13	1	9.999998e-01	28	75	0	13	2		0	0	0	0	0	2	1	9.999790e-01	17	49	0	12	2								-20.000000	1	1	119770	15	41	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
CCDC57	284001	broad.mit.edu	37	17	80159511	80159511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159511G>A	ENST00000389641.4	-	2	346	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.Q104*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57			16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		GCTAGCGCCTGCCTCAGCTTA	0.662000																								0							SO:0001587	stop_gained			ENST00000389641.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843251	0.71488	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	.	.	.	5.48	5.48	0.80851	.	0.313756	0.30311	N	0.009909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-28.3715	16.8142	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000374292:Q104X	Q	-	1	0	CCDC57	77752800	0.820000	0.29190	0.850000	0.33497	0.182000	0.23217	2.169000	0.42434	2.563000	0.86464	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	1	0	0	28	269	0	60	0	2.899947e-01	1	10	0	60	2		0	0	0	0	0	2	1	1	26	266	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.770000	1.000000	1.000000	0.974962	0.990000	1	9.400000e-01	1
CCDC57	284001	broad.mit.edu	37	17	80159556	80159556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159556G>A	ENST00000389641.4	-	2	301	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W|CCDC57_ENST00000392347.1_Missense_Mutation_p.R89W			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57			16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		ACCTCTGCCCGCCTGGCCTCT	0.642000																								0							SO:0001583	missense			ENST00000389641.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.61	3.172445	0.57584	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.24350	3.03;3.03;1.86	5.48	3.22	0.36961	.	0.236359	0.36167	N	0.002743	T	0.27454	0.0674	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.56612	0.627;0.802	T	0.07233	-1.0783	10	0.87932	D	0	-26.0033	11.2565	0.49056	0.0:0.1293:0.7225:0.1483	.	89;89	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	W	89	ENSP00000374292:R89W;ENSP00000376158:R89W;ENSP00000376154:R89W	ENSP00000374292:R89W	R	-	1	2	CCDC57	77752845	1.000000	0.71417	0.995000	0.50966	0.445000	0.32107	3.666000	0.54540	1.262000	0.44165	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	0	0	0	36	360	1	68	1	3.091437e-01	3	18	1	68	3		0	0	0	0	0	2	1	9.929968e-01	35	354	1	66	19								-3.142702	1	0	121198	8	42	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.780000	1.000000	1.000000	0.972337	0.990000	1	9.200000e-01	1
CCDC57	284001	broad.mit.edu	37	17	80159683	80159683	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159683C>T	ENST00000389641.4	-	2	174	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CCDC57_ENST00000392343.3_Silent_p.A46A|CCDC57_ENST00000392347.1_Silent_p.A46A			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57			16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		GTTTCCCCTGCGCCTCCTCCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000389641.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	0	0	1	88	338	1	71	1	8.915550e-01	6	11	1	71	2		0	0	0	0	0	2	1	1	88	336	1	70	20								-20.000000	1	1	121120	5	40	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSNK1D	1453	broad.mit.edu	37	17	80202665	80202665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80202665G>A	ENST00000314028.6	-	9	1589	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta			11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		TCTCATCGGTGCACGACAGAC	0.567000											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000314028.6	1	1	hg19	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208789	0.58343	.	.	ENSG00000141551	ENST00000314028;ENST00000398519	T	0.61158	0.13	5.51	4.48	0.54585	.	0.473238	0.23896	N	0.043484	T	0.32615	0.0835	N	0.08118	0	0.80722	D	1	B	0.21821	0.061	B	0.15484	0.013	T	0.23084	-1.0198	10	0.02654	T	1	.	14.9006	0.70675	0.0:0.1436:0.8564:0.0	.	414	P48730	KC1D_HUMAN	Y	414;357	ENSP00000324464:H414Y	ENSP00000324464:H414Y	H	-	1	0	CSNK1D	77795954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.153000	0.77428	2.605000	0.88082	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	1	0	1	67	262	0	51	1	1	121	356	0	51	2		0	0	0	0	0	2	1	1	64	260	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD7	924	broad.mit.edu	37	17	80274664	80274664	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80274664C>A	ENST00000312648.3	-	2	382	c.276G>T	c.(274-276)ggG>ggT	p.G92G	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000584284.1_Silent_p.G92G|CD7_ENST00000583376.1_5'UTR	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule			8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		TGTCCTGGGACCCTGAGAAGT	0.622000													Pancreas(45;804 1068 19702 28207 28798)											0							SO:0001819	synonymous_variant			ENST00000312648.3	1	0	hg19	CCDS11807.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	0	0	1	148	692	0	174	1	1	2	132	0	174	2		0	0	0	0	0	2	1	1	149	686	0	172	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SECTM1	6398	broad.mit.edu	37	17	80282651	80282651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80282651G>A	ENST00000269389.3	-	3	560	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SECTM1_ENST00000580437.1_Silent_p.A70A	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1			4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		CCTGCCCGTGGGCACGCAGCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000269389.3	0	1	hg19	CCDS11808.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	0	0	0	6	222	0	46	1	8.933599e-01	8	143	0	46	2		0	0	0	0	0	2	1	9.625944e-01	6	216	0	46	2								-7.498957	1	0	121412	3	39	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.340000	0.140000	1.000000	0.310000	0.411497	0.340000	0	2.200000e-01	5.500000e-01
UTS2R	2837	broad.mit.edu	37	17	80332627	80332627	+	Missense_Mutation	SNP	G	G	A	rs114260139	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80332627G>A	ENST00000313135.2	+	1	475	c.427G>A	c.(427-429)Gtc>Atc	p.V143I		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor			8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		CACGCTGACCGTCATGAGCAG	0.677000																								0							SO:0001583	missense			ENST00000313135.2	1	1	hg19	CCDS11810.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.07	1.826543	0.32329	2.27E-4	0.0	ENSG00000181408	ENST00000313135	T	0.39997	1.05	4.88	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.411084	0.25117	N	0.033019	T	0.30039	0.0752	L	0.41573	1.285	0.31819	N	0.626224	B	0.21520	0.057	B	0.20767	0.031	T	0.24977	-1.0145	10	0.27785	T	0.31	.	8.8159	0.34996	0.0819:0.3003:0.6178:0.0	.	143	Q9UKP6	UR2R_HUMAN	I	143	ENSP00000323516:V143I	ENSP00000323516:V143I	V	+	1	0	UTS2R	77925916	0.479000	0.25925	0.444000	0.26895	0.983000	0.72400	0.913000	0.28611	0.158000	0.19367	0.551000	0.68910	GTC		TCGA-IB-7651-01A-11D-2154-08	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	1	0	1	39	118	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	37	116	0	23	2								-20.000000	1	1	121204	3	34	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEXDC	284004	broad.mit.edu	37	17	80391663	80391663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80391663C>T	ENST00000327949.9	+	4	423	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S|HEXDC_ENST00000337014.6_Missense_Mutation_p.P138S			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing			16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		GGAGCTACACCCAGGCGCCCA	0.627000																								0							SO:0001583	missense			ENST00000327949.9	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	5.128	0.209217	0.09757	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.91577	-2.87;-2.87	5.3	-1.34	0.09143	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.737833	0.12882	N	0.431343	D	0.87462	0.6183	M	0.66297	2.02	0.24115	N	0.995827	B;B	0.32283	0.362;0.34	B;B	0.33846	0.16;0.171	T	0.77983	-0.2382	10	0.45353	T	0.12	-3.3651	9.2246	0.37398	0.363:0.397:0.24:0.0	.	138;138	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	S	138	ENSP00000337854:P138S;ENSP00000332634:P138S	ENSP00000332634:P138S	P	+	1	0	HEXDC	77984952	0.000000	0.05858	0.058000	0.19502	0.145000	0.21501	-0.086000	0.11233	-0.097000	0.12307	0.563000	0.77884	CCA		TCGA-IB-7651-01A-11D-2154-08	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	1	0	1	48	267	0	63	1	9.990885e-01	20	41	0	63	2		0	0	0	0	0	2	1	1	47	262	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C17orf62	79415	broad.mit.edu	37	17	80402326	80402326	+	Missense_Mutation	SNP	C	C	T	rs143814965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80402326C>T	ENST00000437807.2	-	7	757	c.440G>A	c.(439-441)cGc>cAc	p.R147H	C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62			8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		GCCTTACCTGCGGTGGCCCAT	0.632000																								0							SO:0001583	missense			ENST00000437807.2	1	1	hg19	CCDS32776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.47|19.47	3.834230|3.834230	0.71373|0.71373	0.0|0.0	3.49E-4|3.49E-4	ENSG00000178927|ENSG00000178927	ENST00000342572|ENST00000536759;ENST00000437807;ENST00000306645;ENST00000434650	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|.	.|.	.|.	.|.	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.933;0.998	T|T	0.78548|0.78548	-0.2162|-0.2162	6|8	0.87932|0.48119	D|T	0|0.1	.|.	16.9278|16.9278	0.86181|0.86181	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;147	.|E1B6X3;Q9BQA9	.|.;CQ062_HUMAN	T|H	37|4;147;147;133	.|.	ENSP00000342228:A37T|ENSP00000307765:R147H	A|R	-|-	1|2	0|0	C17orf62|C17orf62	77995615|77995615	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.681000|0.681000	0.39784|0.39784	2.764000|2.764000	0.47613|0.47613	2.229000|2.229000	0.72834|0.72834	0.561000|0.561000	0.74099|0.74099	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	1	0	1	54	278	0	56	1	1	42	166	0	56	2		0	0	0	0	0	2	1	1	53	275	0	55	2								-20.000000	1	1	121404	8	40	1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PER1	5187	broad.mit.edu	37	17	8051103	8051103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8051103C>T	ENST00000317276.4	-	11	1514	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PER1_ENST00000581082.1_Missense_Mutation_p.R406H|PER1_ENST00000354903.5_Missense_Mutation_p.R410H|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1			47					GGCACAGAAGCGGATAGGGGA	0.617000			T	ETV6	AML, CMML			Other conserved DNA damage response genes							Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0							SO:0001583	missense			ENST00000317276.4	1	1	hg19	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909148	0.92107	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.43688	0.94;0.94	4.73	4.73	0.59995	PAS fold-3 (1);	0.051652	0.64402	D	0.000001	T	0.76579	0.4007	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85115	0.0965	10	0.87932	D	0	-19.2658	15.5824	0.76455	0.0:1.0:0.0:0.0	.	410;426	B4DI49;O15534	.;PER1_HUMAN	H	426;410	ENSP00000314420:R426H;ENSP00000346979:R410H	ENSP00000314420:R426H	R	-	2	0	PER1	7991828	0.997000	0.39634	0.997000	0.53966	0.982000	0.71751	7.544000	0.82117	2.619000	0.88677	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2	1	0	1	32	178	0	44	1	1	45	248	0	44	2		0	0	0	0	0	2	1	1	32	173	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
PER1	5187	broad.mit.edu	37	17	8053110	8053110	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8053110A>G	ENST00000317276.4	-	5	851	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PER1_ENST00000581082.1_Missense_Mutation_p.L205P|PER1_ENST00000354903.5_Missense_Mutation_p.L189P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1			47					GATGTGCTCCAGCTCCTCCAG	0.597000			T	ETV6	AML, CMML			Other conserved DNA damage response genes							Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0							SO:0001583	missense			ENST00000317276.4	0	1	hg19	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204185	0.79127	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.54279	1.98;0.58	5.55	5.55	0.83447	.	0.074797	0.56097	D	0.000038	T	0.69088	0.3072	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.78314	0.974;0.987;0.991	T	0.72398	-0.4306	10	0.87932	D	0	-11.0552	13.6552	0.62333	1.0:0.0:0.0:0.0	.	205;189;205	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	P	205;189	ENSP00000314420:L205P;ENSP00000346979:L189P	ENSP00000314420:L205P	L	-	2	0	PER1	7993835	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.983000	0.93477	2.118000	0.64928	0.460000	0.39030	CTG		TCGA-IB-7651-01A-11D-2154-08	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2	0	0	0	18	1274	0	195	1	8.062343e-01	6	210	0	195	2		0	0	0	0	0	2	1	9.999777e-01	18	1251	0	194	2								-3.318851	1	0	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.170000	0.090000	1.000000	0.170000	0.260121	0.170000	0	1.300000e-01	2.400000e-01
ZNF750	79755	broad.mit.edu	37	17	80788752	80788752	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80788752G>T	ENST00000269394.3	-	3	2271	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Splice_Site_p.L81I|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750			31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		ACAACATTGAGGCTAGAAGAA	0.572000																								0							SO:0001630	splice_region_variant			ENST00000269394.3	1	0	hg19	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	5.398	0.258545	0.10239	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.14266	2.52	4.75	3.71	0.42584	.	0.226724	0.30528	N	0.009436	T	0.09512	0.0234	L	0.41079	1.255	0.28812	N	0.898152	B	0.26602	0.154	B	0.23716	0.048	T	0.09596	-1.0667	9	.	.	.	-20.9973	5.1242	0.14876	0.1122:0.0:0.5721:0.3158	.	480	Q32MQ0	ZN750_HUMAN	I	480;81	ENSP00000269394:L480I	.	L	-	1	0	ZNF750	78382041	1.000000	0.71417	0.969000	0.41365	0.262000	0.26303	1.466000	0.35310	2.197000	0.70478	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	1	0	1	79	280	0	76	0	2.155685e-01	0	4	0	76	2		0	0	0	0	0	2	1	1	78	276	0	75	2								-4.110920	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF750	79755	broad.mit.edu	37	17	80790046	80790046	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80790046G>T	ENST00000269394.3	-	2	1118	c.285C>A	c.(283-285)ctC>ctA	p.L95L	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750			31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		CGAAGGCAGAGAGTCCATTTG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000269394.3	1	1	hg19	CCDS11819.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	1	0	1	89	372	0	81	0	0	0	1	0	81	2		0	0	0	0	0	2	1	1	87	361	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBCD	6904	broad.mit.edu	37	17	80887372	80887372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80887372C>T	ENST00000355528.4	+	32	3117	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		TTGACGGAGTCGACGGTGAGG	0.662000																								0							SO:0001583	missense			ENST00000355528.4	1	1	hg19	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974366	0.74246	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.37411	1.2	4.67	4.67	0.58626	Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.314127	0.31061	N	0.008326	T	0.59307	0.2184	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	P;P;P	0.61070	0.814;0.883;0.876	T	0.65569	-0.6136	9	.	.	.	.	15.0761	0.72077	0.0:1.0:0.0:0.0	.	747;996;996	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	L	996;747	ENSP00000347719:S996L	.	S	+	2	0	TBCD	78480661	1.000000	0.71417	0.907000	0.35723	0.156000	0.22039	6.924000	0.75823	2.127000	0.65507	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	0	0	0	19	149	0	36	1	9.999954e-01	18	156	0	36	2		0	0	0	0	0	2	1	9.999918e-01	18	146	0	34	2								-20.000000	1	0	0	0		1	1	2	3	2.013100	0	0.170000	2.060000	1.776886e-01	0.990000	0.850000	1.000000	1.000000	0.991027	0.990000	1	9.900000e-01	1
PFAS	5198	broad.mit.edu	37	17	8161476	8161476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8161476C>A	ENST00000314666.6	+	11	1428	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase			35				L-Glutamine(DB00130)	GGCATTGGGTCCATGGAAGCT	0.607000																								0							SO:0001583	missense			ENST00000314666.6	1	1	hg19	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233363	0.09969	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.42131	1.51;0.98	5.78	3.66	0.41972	PurM, N-terminal-like (1);	0.110757	0.64402	D	0.000005	T	0.44159	0.1280	M	0.74258	2.255	0.53688	D	0.999974	B	0.32620	0.378	B	0.36186	0.219	T	0.42327	-0.9458	10	0.87932	D	0	-9.5672	8.5399	0.33386	0.0:0.757:0.1488:0.0942	.	432	O15067	PUR4_HUMAN	Y	8;432	ENSP00000441706:S8Y;ENSP00000313490:S432Y	ENSP00000313490:S432Y	S	+	2	0	PFAS	8102201	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.263000	0.51546	0.677000	0.31305	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1	96	393	0	89	1	9.457802e-01	10	12	0	89	2		0	0	0	0	0	2	1	1	95	390	0	89	2								-3.471438	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFAS	5198	broad.mit.edu	37	17	8166542	8166542	+	Missense_Mutation	SNP	A	A	G	rs35976967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8166542A>G	ENST00000314666.6	+	13	1659	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N85S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase			35				L-Glutamine(DB00130)	CCCAAGGGAAACCCCATCTGC	0.577000																								0							SO:0001583	missense			ENST00000314666.6	1	1	hg19	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603648	0.46423	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.32023	1.47;1.47	5.91	5.91	0.95273	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.65105	-0.6249	10	0.87932	D	0	-24.994	14.3033	0.66368	1.0:0.0:0.0:0.0	.	85;509	F5GWT9;O15067	.;PUR4_HUMAN	S	85;509	ENSP00000441706:N85S;ENSP00000313490:N509S	ENSP00000313490:N509S	N	+	2	0	PFAS	8107267	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	8.163000	0.89659	2.266000	0.75297	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1	74	688	0	142	1	8.413206e-01	4	29	0	142	2		0	0	0	0	0	2	1	1	70	670	0	142	2								-19.975480	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.920000	1.000000	1.000000	0.995230	0.990000	1	9.900000e-01	1
PFAS	5198	broad.mit.edu	37	17	8168391	8168391	+	Missense_Mutation	SNP	C	C	T	rs117044677	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168391C>T	ENST00000314666.6	+	18	2361	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase			35				L-Glutamine(DB00130)	GCCCGGCTGGCCGTGGCCGAA	0.632000																								0							SO:0001583	missense			ENST00000314666.6	1	1	hg19	CCDS11136.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.54	3.847335	0.71603	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.53640	0.61;1.33	5.8	5.8	0.92144	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.88704	2.975	0.80722	D	1	P	0.47302	0.893	B	0.37692	0.256	T	0.69308	-0.5179	10	0.87932	D	0	-13.024	17.5632	0.87912	0.0:1.0:0.0:0.0	.	743	O15067	PUR4_HUMAN	V	319;743;152	ENSP00000441706:A319V;ENSP00000313490:A743V	ENSP00000313490:A743V	A	+	2	0	PFAS	8109116	1.000000	0.71417	0.945000	0.38365	0.031000	0.12232	7.035000	0.76517	2.758000	0.94735	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1	42	193	0	43	1	9.988034e-01	15	35	0	43	2		0	0	0	0	0	2	1	1	41	191	0	43	2								-20.000000	1	1	121392	2	27	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFAS	5198	broad.mit.edu	37	17	8168671	8168671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168671G>A	ENST00000314666.6	+	19	2479	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	PFAS_ENST00000545834.1_Silent_p.A358A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase			35				L-Glutamine(DB00130)	CAGCTTTGGCGGATGCCTGTG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000314666.6	1	1	hg19	CCDS11136.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1	111	471	0	104	1	9.935286e-01	13	22	0	104	2		0	0	0	0	0	2	1	1	106	455	0	102	2								-2.797845	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFAS	5198	broad.mit.edu	37	17	8169597	8169597	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8169597T>C	ENST00000314666.6	+	22	2880	c.2747T>C	c.(2746-2748)gTc>gCc	p.V916A	PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase			35				L-Glutamine(DB00130)	GGAGGCCTCGTCACATGCCTG	0.592000																								0							SO:0001583	missense			ENST00000314666.6	1	1	hg19	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420625	0.42918	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.14766	2.48;2.48	5.92	5.92	0.95590	AIR synthase-related protein, C-terminal (2);	0.358875	0.30820	N	0.008814	T	0.13500	0.0327	L	0.32530	0.975	0.46149	D	0.998891	B	0.18461	0.028	B	0.20577	0.03	T	0.02758	-1.1114	10	0.72032	D	0.01	-7.6971	14.3183	0.66468	0.0:0.0:0.0:1.0	.	916	O15067	PUR4_HUMAN	A	492;916;325	ENSP00000441706:V492A;ENSP00000313490:V916A	ENSP00000313490:V916A	V	+	2	0	PFAS	8110322	1.000000	0.71417	0.956000	0.39512	0.512000	0.34134	7.475000	0.81041	2.274000	0.75844	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	1	50	254	0	56	1	9.649030e-01	12	18	0	56	2		0	0	0	0	0	2	1	1	50	252	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFAS	5198	broad.mit.edu	37	17	8171913	8171913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8171913C>T	ENST00000314666.6	+	27	3578	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase			35				L-Glutamine(DB00130)	CTTCCGGAAGCGGCCAGACAC	0.627000																								0							SO:0001583	missense			ENST00000314666.6	1	1	hg19	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881660	0.72294	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.38401	1.14;1.87	5.11	5.11	0.69529	Glutamine amidotransferase type 1 (1);	0.000000	0.64402	D	0.000001	T	0.73094	0.3543	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82178	-0.0586	10	0.87932	D	0	-24.7076	11.4877	0.50363	0.1795:0.8205:0.0:0.0	.	1149;1149	A8K8N7;O15067	.;PUR4_HUMAN	W	725;1149;558	ENSP00000441706:R725W;ENSP00000313490:R1149W	ENSP00000313490:R1149W	R	+	1	2	PFAS	8112638	0.997000	0.39634	1.000000	0.80357	0.791000	0.44710	3.607000	0.54102	2.537000	0.85549	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	1	0	0	11	227	0	41	1	6.171785e-01	8	35	0	41	2		0	0	0	0	0	2	1	9.983328e-01	11	224	0	40	2								-13.116930	1	1	121408	1	31	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.580000	0.300000	1.000000	0.540000	0.625781	0.580000	0	4.200000e-01	8.500000e-01
SLC25A35	399512	broad.mit.edu	37	17	8197811	8197811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8197811G>A	ENST00000577745.1	-	1	825	c.315C>T	c.(313-315)agC>agT	p.S105S	SLC25A35_ENST00000579192.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S|SLC25A35_ENST00000396278.1_Silent_p.S105S|SLC25A35_ENST00000380067.2_Silent_p.S105S			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35			6					CAGCTGCTGCGCTGCGGGCAG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000577745.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	1	0	1	42	235	0	40	1	8.641170e-01	4	18	0	40	2		0	0	0	0	0	2	1	1	40	230	0	40	2								-20.000000	1	1	121296	3	28	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ARHGEF15	22899	broad.mit.edu	37	17	8215524	8215524	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8215524C>A	ENST00000361926.3	+	2	277	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15			37					GCACCAACCCCAATGTGCACC	0.622000																								0							SO:0001583	missense			ENST00000361926.3	1	1	hg19	CCDS11139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.850|5.850	0.341069|0.341069	0.11069|0.11069	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000361926;ENST00000421050|ENST00000455564	T;T|.	0.72051|.	-0.62;-0.62|.	5.14|5.14	0.796|0.796	0.18648|0.18648	.|.	0.685542|.	0.12656|.	N|.	0.450016|.	T|T	0.25005|0.25005	0.0607|0.0607	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|6	0.66056|0.52906	D|T	0.02|0.07	-0.5385|-0.5385	3.993|3.993	0.09545|0.09545	0.1636:0.5705:0.0:0.2659|0.1636:0.5705:0.0:0.2659	.|.	56;56|.	D3DTR7;O94989|.	.;ARHGF_HUMAN|.	Q|K	56|18	ENSP00000355026:P56Q;ENSP00000412505:P56Q|.	ENSP00000355026:P56Q|ENSP00000413324:Q18K	P|Q	+|+	2|1	0|0	ARHGEF15|ARHGEF15	8156249|8156249	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.798000|0.798000	0.45092|0.45092	0.024000|0.024000	0.13555|0.13555	0.056000|0.056000	0.16144|0.16144	-0.145000|-0.145000	0.13849|0.13849	CCA|CAA		TCGA-IB-7651-01A-11D-2154-08	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	1	0	1	138	591	0	143	0	7.362694e-01	0	13	0	143	2		0	0	0	0	0	2	1	1	132	472	0	113	2								-3.001727	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF15	22899	broad.mit.edu	37	17	8222373	8222373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8222373G>T	ENST00000361926.3	+	13	2192	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H|ARHGEF15_ENST00000582060.1_Splice_Site|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15			37					CCCTGGTCCAGGCCCAGCAGG	0.642000																								0							SO:0001583	missense			ENST00000361926.3	0	1	hg19	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	14.08	2.427328	0.43122	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.88046	-2.33;-2.33	4.89	1.55	0.23275	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	L	0.41573	1.285	0.33947	D	0.643989	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86348	0.1709	10	0.72032	D	0.01	-21.3641	3.8717	0.09039	0.2262:0.2035:0.5703:0.0	.	694;694	D3DTR7;O94989	.;ARHGF_HUMAN	H	694;484;694	ENSP00000355026:Q694H;ENSP00000412505:Q694H	ENSP00000355026:Q694H	Q	+	3	2	ARHGEF15	8163098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.643000	0.24750	0.627000	0.30340	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	1	0	1	105	477	0	94	0	7.095715e-01	0	13	0	94	2		0	0	0	0	0	2	1	1	100	467	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ODF4	146852	broad.mit.edu	37	17	8243676	8243676	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8243676A>C	ENST00000328248.2	+	1	495	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q	RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4			8					CTTCTCCAAGAAATGGCTGGA	0.557000																								0							SO:0001583	missense			ENST00000328248.2	1	1	hg19	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444775	0.25987	.	.	ENSG00000184650	ENST00000328248	T	0.25749	1.78	4.89	2.47	0.30058	.	0.425172	0.20109	N	0.099047	T	0.20495	0.0493	L	0.43923	1.385	0.40096	D	0.976312	P	0.36392	0.551	B	0.34779	0.189	T	0.07009	-1.0795	10	0.66056	D	0.02	-10.367	9.0114	0.36144	0.6393:0.3607:0.0:0.0	.	103	Q2M2E3	ODFP4_HUMAN	Q	103	ENSP00000331086:K103Q	ENSP00000331086:K103Q	K	+	1	0	ODF4	8184401	0.957000	0.32711	0.990000	0.47175	0.012000	0.07955	1.522000	0.35921	0.848000	0.35191	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1	1	0	1	18	89	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999857e-01	17	86	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999744	0.990000	1	9.900000e-01	1
KRBA2	124751	broad.mit.edu	37	17	8272507	8272507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8272507G>A	ENST00000331336.2	-	2	1429	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.P393L|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2			18					TGAAGCTTCAGGAGTGGGATC	0.522000																								0							SO:0001583	missense			ENST00000331336.2	1	1	hg19	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	g	9.358	1.067243	0.20067	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.25749	1.87;1.78	2.56	1.59	0.23543	.	.	.	.	.	T	0.23210	0.0561	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27673	-1.0067	9	0.87932	D	0	.	5.3549	0.16055	0.1587:0.0:0.8413:0.0	.	475	Q6ZNG9	KRBA2_HUMAN	L	393;475	ENSP00000379565:P393L;ENSP00000328017:P475L	ENSP00000328017:P475L	P	-	2	0	KRBA2	8213232	0.485000	0.25972	0.002000	0.10522	0.042000	0.13812	0.667000	0.25112	0.662000	0.31006	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	1	0	1	85	384	0	90	0	6.195932e-01	1	10	0	90	2		0	0	0	0	0	2	1	1	84	376	0	90	2								-2.919241	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRBA2	124751	broad.mit.edu	37	17	8274848	8274848	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8274848G>T	ENST00000331336.2	-	1	10	c.5C>A	c.(4-6)cCt>cAt	p.P2H	RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2			18					CAGGAATGAAGGCATGCAGCA	0.483000																								0							SO:0001583	missense			ENST00000331336.2	1	1	hg19	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745553	0.15710	.	.	ENSG00000184619	ENST00000331336	T	0.31769	1.48	2.21	1.22	0.21188	.	.	.	.	.	T	0.16896	0.0406	N	0.14661	0.345	0.09310	N	1	P	0.45283	0.855	B	0.41036	0.346	T	0.11084	-1.0602	9	0.87932	D	0	.	4.8906	0.13724	0.1807:0.0:0.8193:0.0	.	2	Q6ZNG9	KRBA2_HUMAN	H	2	ENSP00000328017:P2H	ENSP00000328017:P2H	P	-	2	0	KRBA2	8215573	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.832000	0.27490	0.501000	0.28013	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	1	0	0	35	198	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	1	35	189	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
NDEL1	81565	broad.mit.edu	37	17	8354153	8354153	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8354153G>A	ENST00000334527.7	+	6	779	c.582G>A	c.(580-582)tcG>tcA	p.S194S	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Silent_p.S194S|NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000402554.3_Silent_p.S194S	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1			13					CTAGAAAGTCGGCTCCTAGCT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000334527.7	1	1	hg19	CCDS11143.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	1	0	1	51	173	0	45	1	1	48	198	0	45	2		0	0	0	0	0	2	1	1	48	169	0	44	2								-3.997094	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDEL1	81565	broad.mit.edu	37	17	8358148	8358148	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8358148T>C	ENST00000334527.7	+	7	932	c.735T>C	c.(733-735)acT>acC	p.T245T	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Silent_p.T245T|NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000402554.3_Silent_p.T245T	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1			13					GTCCACTAACTCCCTCTGCTA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000334527.7	1	1	hg19	CCDS11143.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	0	0	1	196	893	1	290	1	1	53	166	1	290	5		0	0	0	0	0	2	1	1	195	880	1	288	14								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH10	4628	broad.mit.edu	37	17	8380302	8380302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8380302G>A	ENST00000269243.4	-	40	5816	c.5678C>T	c.(5677-5679)gCg>gTg	p.A1893V	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|MYH10_ENST00000360416.3_Missense_Mutation_p.A1924V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle			52					GGCACGCGTCGCTTCTTCTTC	0.572000																								0							SO:0001583	missense			ENST00000269243.4	1	1	hg19	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685413	0.68157	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.95	4.95	0.65309	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.49778	1.585	0.80722	D	1	B;B;B	0.27791	0.189;0.157;0.189	B;B;B	0.31245	0.126;0.077;0.126	T	0.75923	-0.3146	10	0.66056	D	0.02	.	18.3181	0.90227	0.0:0.0:1.0:0.0	.	1902;1924;1893	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1893;1924;1914;1909	ENSP00000269243:A1893V;ENSP00000353590:A1924V;ENSP00000379539:A1914V;ENSP00000369315:A1909V	ENSP00000269243:A1893V	A	-	2	0	MYH10	8321027	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	7.746000	0.85057	2.712000	0.92718	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1	62	244	0	41	1	9.999999e-01	4	96	0	41	2		0	0	0	0	0	2	1	1	61	236	0	40	2								-3.382100	1	1	121412	1	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH10	4628	broad.mit.edu	37	17	8381680	8381680	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8381680T>C	ENST00000269243.4	-	39	5727	c.5589A>G	c.(5587-5589)cgA>cgG	p.R1863R	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Silent_p.R1879R|MYH10_ENST00000396239.1_Silent_p.R1884R|MYH10_ENST00000360416.3_Silent_p.R1894R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle			52					GGTCCGCGTGTCGACGCTCAT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000269243.4	0	1	hg19	CCDS11144.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	0	26	512	0	101	0	9.542359e-01	0	102	0	101	2		0	0	0	0	0	2	1	9.999999e-01	24	508	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.590000	0.390000	1.000000	0.580000	0.632419	0.590000	0	4.800000e-01	7.700000e-01
MYH10	4628	broad.mit.edu	37	17	8390805	8390805	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8390805G>A	ENST00000269243.4	-	34	5037	c.4899C>T	c.(4897-4899)atC>atT	p.I1633I	MYH10_ENST00000379980.4_Silent_p.I1649I|MYH10_ENST00000396239.1_Silent_p.I1654I|MYH10_ENST00000360416.3_Silent_p.I1664I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle			52					TCGCAGCCTCGATTTGGGCTT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000269243.4	1	1	hg19	CCDS11144.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1	263	1056	0	226	1	9.999963e-01	3	68	0	226	2		0	0	0	0	0	2	1	1	262	1035	0	223	2								-20.000000	1	1	121412	1	41	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH10	4628	broad.mit.edu	37	17	8445487	8445487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8445487C>T	ENST00000269243.4	-	13	1651	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	MYH10_ENST00000360416.3_Missense_Mutation_p.E515K|MYH10_ENST00000396239.1_Missense_Mutation_p.E505K|MYH10_ENST00000379980.4_Missense_Mutation_p.E521K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle			52					AAGTTCCACTCGATGCCTTCG	0.473000																								0							SO:0001583	missense			ENST00000269243.4	1	1	hg19	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876551	0.97055	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90614	0.7057	M	0.69358	2.11	0.80722	D	1	P;P;P	0.51147	0.906;0.942;0.906	P;P;P	0.52598	0.619;0.703;0.619	D	0.91663	0.5344	10	0.87932	D	0	.	18.7716	0.91894	0.0:1.0:0.0:0.0	.	514;515;505	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	505;515;505;521	ENSP00000269243:E505K;ENSP00000353590:E515K;ENSP00000379539:E505K;ENSP00000369315:E521K	ENSP00000269243:E505K	E	-	1	0	MYH10	8386212	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.735000	0.93741	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1	69	307	0	78	1	9.998922e-01	6	55	0	78	2		0	0	0	0	0	2	1	1	69	300	0	77	2								-3.031760	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH10	4628	broad.mit.edu	37	17	8448851	8448851	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8448851C>T	ENST00000269243.4	-	12	1454	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000360416.3_Missense_Mutation_p.R449H|MYH10_ENST00000396239.1_Missense_Mutation_p.R439H|MYH10_ENST00000379980.4_Missense_Mutation_p.R455H	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle			52					TTTATTGATGCGATGAACGAG	0.428000																								0							SO:0001583	missense			ENST00000269243.4	1	1	hg19	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383496	0.95967	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96149	0.9106	10	0.87932	D	0	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	448;449;439	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	H	439;449;439;455	ENSP00000269243:R439H;ENSP00000353590:R449H;ENSP00000379539:R439H;ENSP00000369315:R455H	ENSP00000269243:R439H	R	-	2	0	MYH10	8389576	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	1	0	1	94	390	0	77	1	9.999131e-01	4	55	0	77	2		0	0	0	0	0	2	1	1	93	386	0	76	2								-3.438211	1	1	121412	1	30	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC42	146849	broad.mit.edu	37	17	8633478	8633478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8633478T>G	ENST00000293845.3	-	7	1147	c.921A>C	c.(919-921)aaA>aaC	p.K307N	CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42			9					GTTCCTTCTTTTTCACCTCTG	0.542000																								0							SO:0001583	missense			ENST00000293845.3	1	1	hg19	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568810	0.45798	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.30981	1.68;1.51	5.29	3.31	0.37934	.	0.088480	0.48767	D	0.000163	T	0.26085	0.0636	L	0.52573	1.65	0.29275	N	0.87043	P	0.36282	0.546	B	0.35550	0.205	T	0.16158	-1.0412	10	0.54805	T	0.06	-43.6762	8.4957	0.33127	0.0:0.8159:0.0:0.1841	.	307	Q96M95	CCD42_HUMAN	N	307;233	ENSP00000293845:K307N;ENSP00000444359:K233N	ENSP00000293845:K307N	K	-	3	2	CCDC42	8574203	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	0.435000	0.21510	0.797000	0.33971	-0.242000	0.12053	AAA		TCGA-IB-7651-01A-11D-2154-08	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	1	0	1	49	184	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	49	183	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC42	146849	broad.mit.edu	37	17	8638511	8638511	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638511A>G	ENST00000293845.3	-	6	1002	c.776T>C	c.(775-777)aTt>aCt	p.I259T	CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42			9					GGCCATCTTAATGGTGCCAAG	0.572000																								0							SO:0001583	missense			ENST00000293845.3	1	1	hg19	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.169964	0.57584	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.29397	1.57;1.58	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000021	T	0.42471	0.1204	L	0.37630	1.12	0.40759	D	0.982985	D	0.76494	0.999	D	0.70716	0.97	T	0.17471	-1.0368	10	0.24483	T	0.36	-13.7427	13.9048	0.63828	1.0:0.0:0.0:0.0	.	259	Q96M95	CCD42_HUMAN	T	259;185	ENSP00000293845:I259T;ENSP00000444359:I185T	ENSP00000293845:I259T	I	-	2	0	CCDC42	8579236	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	7.008000	0.76341	2.127000	0.65507	0.460000	0.39030	ATT		TCGA-IB-7651-01A-11D-2154-08	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	0	0	0	10	248	0	36	0	1.945181e-03	0	2	0	36	2		0	0	0	0	0	2	1	9.967313e-01	10	243	0	36	2								-4.118028	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.490000	0.240000	1.000000	0.460000	0.546899	0.490000	0	3.500000e-01	7.300000e-01
CCDC42	146849	broad.mit.edu	37	17	8638779	8638779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638779G>T	ENST00000293845.3	-	5	869	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42			9					TTTTGCTGCAGGATCTCATCA	0.637000																								0							SO:0001583	missense			ENST00000293845.3	1	1	hg19	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658038	0.67586	.	.	ENSG00000161973	ENST00000293845	T	0.36878	1.23	5.52	4.55	0.56014	.	0.000000	0.47455	D	0.000231	T	0.52041	0.1710	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.53927	-0.8369	10	0.62326	D	0.03	-25.5596	13.1418	0.59438	0.0773:0.0:0.9227:0.0	.	215	Q96M95	CCD42_HUMAN	M	215	ENSP00000293845:L215M	ENSP00000293845:L215M	L	-	1	2	CCDC42	8579504	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.336000	0.59304	1.571000	0.49722	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	1	0	1	58	338	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	58	328	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MFSD6L	162387	broad.mit.edu	37	17	8702270	8702270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8702270G>T	ENST00000329805.4	-	1	397	c.169C>A	c.(169-171)Cta>Ata	p.L57I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like			17					GCAGCGATTAGGTGCTTGGTT	0.657000																								0							SO:0001583	missense			ENST00000329805.4	1	1	hg19	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798281	0.70567	.	.	ENSG00000185156	ENST00000329805	D	0.84442	-1.85	4.47	3.42	0.39159	Major facilitator superfamily domain, general substrate transporter (1);	0.222943	0.29369	N	0.012358	D	0.86707	0.5997	M	0.70595	2.14	0.33418	D	0.57947	D	0.64830	0.994	D	0.66716	0.946	D	0.83921	0.0301	10	0.09338	T	0.73	-9.7704	3.8006	0.08757	0.1738:0.2465:0.5797:0.0	.	57	Q8IWD5	MFS6L_HUMAN	I	57	ENSP00000330051:L57I	ENSP00000330051:L57I	L	-	1	2	MFSD6L	8642995	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	2.524000	0.45589	2.302000	0.77476	0.655000	0.94253	CTA		TCGA-IB-7651-01A-11D-2154-08	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	1	0	1	70	303	0	65	1	5.866034e-01	4	6	0	65	2		0	0	0	0	0	2	1	1	69	301	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3R6	146850	broad.mit.edu	37	17	8725208	8725208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8725208G>A	ENST00000311434.9	-	18	2071	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6								CAGCCCAGTGGCCCGCAGGAA	0.587000																								0							SO:0001583	missense			ENST00000311434.9	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	11	34	0	10	0	5.553320e-01	0	7	0	10	2		0	0	0	0	0	2	1	9.987376e-01	9	34	0	10	2								-19.996480	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999694	0.990000	1	9.900000e-01	1
PIK3R6	146850	broad.mit.edu	37	17	8731458	8731458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8731458G>A	ENST00000311434.9	-	12	1602	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6								ATGTAGTAGAGCTGCAGGCTG	0.652000																								0							SO:0001583	missense			ENST00000311434.9	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	34	352	0	82	0	3.297360e-01	0	13	0	82	2		0	0	0	0	0	2	1	1	33	347	0	80	2								-11.157730	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.750000	1.000000	1.000000	0.963353	0.990000	1	8.900000e-01	1
PIK3R6	146850	broad.mit.edu	37	17	8741937	8741937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8741937G>A	ENST00000311434.9	-	4	372	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6								CCGGGATCTCGCTCGACCTTC	0.592000																								0							SO:0001587	stop_gained			ENST00000311434.9	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	10	43	0	10	0	8.461036e-01	0	17	0	10	2		0	0	0	0	0	2	1	9.975824e-01	10	42	0	10	2								-3.597006	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.998366	0.990000	1	9.900000e-01	1
PIK3R5	23533	broad.mit.edu	37	17	8791855	8791855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8791855G>A	ENST00000447110.1	-	10	1373	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5			34					TTCTGCCCAGGCCTGCGGTGG	0.637000													NSCLC(18;589 615 7696 20311 50332)											0							SO:0001583	missense			ENST00000447110.1	1	1	hg19	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583346	0.28268	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76186	-1.0	5.51	-0.659	0.11424	.	0.537442	0.21129	N	0.079692	T	0.47655	0.1457	N	0.12182	0.205	0.24214	N	0.995461	B	0.02656	0.0	B	0.08055	0.003	T	0.24225	-1.0166	10	0.17369	T	0.5	-5.3769	6.06	0.19832	0.3788:0.0:0.5066:0.1146	.	417	Q8WYR1	PI3R5_HUMAN	S	417	ENSP00000392812:P417S	ENSP00000269300:P417S	P	-	1	0	PIK3R5	8732580	0.839000	0.29477	0.675000	0.29917	0.886000	0.51366	1.691000	0.37721	-0.061000	0.13110	-0.188000	0.12872	CCT		TCGA-IB-7651-01A-11D-2154-08	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	1	0	1	23	90	0	19	0	9.895036e-01	0	32	0	19	2		0	0	0	0	0	2	1	9.999997e-01	23	88	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
TIMM22	29928	broad.mit.edu	37	17	902750	902750	+	Splice_Site	SNP	A	A	G	rs141823779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:902750A>G	ENST00000327158.4	+	3	461		c.e3-1			NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)			7					CCCTGCCCACAGTACCGGGGA	0.502000																								0							SO:0001630	splice_region_variant			ENST00000327158.4	1	1	hg19	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025922	0.54683	2.27E-4	0.0	ENSG00000177370	ENST00000327158	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0767	0.72082	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TIMM22	849500	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	8.864000	0.92294	2.150000	0.67090	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	1	0	1	102	493	0	145	1	6.365792e-01	11	1	0	145	2		0	0	0	0	0	2	1	1	102	478	0	145	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STX8	9482	broad.mit.edu	37	17	9471724	9471724	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9471724T>C	ENST00000306357.4	-	2	508	c.81A>G	c.(79-81)cgA>cgG	p.R27R	STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_5'UTR	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8			12					CATATTGATTTCGTTGTTGAA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000306357.4	1	1	hg19	CCDS32565.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	1	0	1	12	85	0	43	1	9.999982e-01	44	168	0	43	2		0	0	0	0	0	2	1	9.989963e-01	12	79	0	43	2								-19.704790	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.820000	1.000000	1.000000	0.989411	0.990000	1	9.900000e-01	1
WDR16	146845	broad.mit.edu	37	17	9489210	9489210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9489210G>A	ENST00000576499.1	+	2	205	c.191G>A	c.(190-192)gGc>gAc	p.G64D	WDR16_ENST00000299764.5_Missense_Mutation_p.G74D|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000352665.5_Missense_Mutation_p.G64D					WD repeat domain 16			31					CAGGGTCATGGCAACAACGTC	0.473000																								0							SO:0001583	missense			ENST00000576499.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	0.033	-1.324719	0.01309	.	.	ENSG00000166596	ENST00000352665;ENST00000299764	T;T	0.59502	0.26;0.26	5.86	-1.66	0.08265	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.436137	0.27236	N	0.020293	T	0.27731	0.0682	N	0.12611	0.24	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.19811	-1.0294	10	0.09590	T	0.72	-3.5552	6.1656	0.20388	0.4481:0.2334:0.3185:0.0	.	74;64	Q8N1V2-2;Q8N1V2	.;WDR16_HUMAN	D	64;74	ENSP00000339449:G64D;ENSP00000299764:G74D	ENSP00000299764:G74D	G	+	2	0	WDR16	9429935	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.843000	0.27640	-0.189000	0.10482	-0.224000	0.12420	GGC		TCGA-IB-7651-01A-11D-2154-08	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2	1	0	1	159	653	0	154		0	0	0	0	154	2		0	0	0	0	0	2	1	1	156	644	0	154	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR16	146845	broad.mit.edu	37	17	9538792	9538792	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9538792T>C	ENST00000352665.5	+	11	1460	c.1391T>C	c.(1390-1392)gTg>gCg	p.V464A	WDR16_ENST00000299764.5_Missense_Mutation_p.V474A|WDR16_ENST00000396219.3_Missense_Mutation_p.V396A|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16			31					AAGTCATCAGTGTCCTGCATT	0.537000																								0							SO:0001583	missense			ENST00000352665.5	1	1	hg19	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740766	0.69304	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.73789	-0.78;-0.78;-0.78	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057202	0.64402	D	0.000002	D	0.89128	0.6627	H	0.94698	3.57	0.58432	D	0.999992	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.71656	0.93;0.93;0.974	D	0.91646	0.5331	10	0.59425	D	0.04	-19.7206	13.8542	0.63515	0.0:0.0:0.0:1.0	.	474;396;464	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	A	464;396;474	ENSP00000339449:V464A;ENSP00000379521:V396A;ENSP00000299764:V474A	ENSP00000299764:V474A	V	+	2	0	WDR16	9479517	1.000000	0.71417	0.995000	0.50966	0.252000	0.25951	7.492000	0.81482	1.907000	0.55213	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	1	0	1	63	252	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	61	250	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP43	124739	broad.mit.edu	37	17	9631500	9631500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9631500C>T	ENST00000285199.7	+	15	2661	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.G850G	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43			26					TGTTGACGGGCACTGCGGGTG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000285199.7	1	1	hg19	CCDS45610.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	1	0	1	41	131	0	38	1	9.896849e-01	11	15	0	38	2		0	0	0	0	0	2	1	1	39	129	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLP2R	9340	broad.mit.edu	37	17	9745927	9745927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9745927G>T	ENST00000262441.5	+	4	1011	c.498G>T	c.(496-498)aaG>aaT	p.K166N	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor			44				Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACAGCTTCAAGCAAAACGTGA	0.577000																								0							SO:0001583	missense			ENST00000262441.5	1	1	hg19	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.886026|1.886026	0.33348|0.33348	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.37058|.	1.22|.	5.06|5.06	-3.89|-3.89	0.04193|0.04193	.|.	0.382542|.	0.19105|.	N|.	0.122616|.	T|T	0.30198|0.30198	0.0757|0.0757	L|L	0.47716|0.47716	1.5|1.5	0.18873|0.18873	N|N	0.999983|0.999983	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.32322|0.32322	-0.9911|-0.9911	10|5	0.30854|.	T|.	0.27|.	.|.	1.3143|1.3143	0.02104|0.02104	0.404:0.2461:0.2295:0.1204|0.404:0.2461:0.2295:0.1204	.|.	166|.	O95838|.	GLP2R_HUMAN|.	N|I	166;141;166|19	ENSP00000262441:K166N|.	ENSP00000262441:K166N|.	K|S	+|+	3|2	2|0	GLP2R|GLP2R	9686652|9686652	0.458000|0.458000	0.25760|0.25760	0.001000|0.001000	0.08648|0.08648	0.961000|0.961000	0.63080|0.63080	0.511000|0.511000	0.22739|0.22739	-0.874000|-0.874000	0.04027|0.04027	-0.181000|-0.181000	0.13052|0.13052	AAG|AGC		TCGA-IB-7651-01A-11D-2154-08	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4	1	0	1	59	216	0	66	0	3.850270e-01	0	6	0	66	2		0	0	0	0	0	2	1	1	59	214	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLP2R	9340	broad.mit.edu	37	17	9764515	9764515	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9764515G>T	ENST00000262441.5	+	8	1498	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	GLP2R_ENST00000574745.1_Splice_Site_p.G149W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor			44				Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGAGAACACAGGGTAGGTAAT	0.458000																								0							SO:0001630	splice_region_variant			ENST00000262441.5	1	0	hg19	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.037|5.037	0.192458|0.192458	0.09599|0.09599	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.38560|.	1.13|.	5.24|5.24	3.17|3.17	0.36434|0.36434	GPCR, family 2-like (1);|.	0.433344|.	0.17499|.	N|.	0.172059|.	T|T	0.73598|0.73598	0.3607|0.3607	M|M	0.85373|0.85373	2.75|2.75	0.44395|0.44395	D|D	0.997307|0.997307	D|.	0.67145|.	0.996|.	D|.	0.72338|.	0.977|.	T|T	0.73040|0.73040	-0.4108|-0.4108	10|5	0.72032|.	D|.	0.01|.	.|.	8.9082|8.9082	0.35537|0.35537	0.0881:0.1486:0.7633:0.0|0.0881:0.1486:0.7633:0.0	.|.	329|.	O95838|.	GLP2R_HUMAN|.	W|H	329;304;329|181	ENSP00000262441:G329W|.	ENSP00000262441:G329W|.	G|Q	+|+	1|3	0|2	GLP2R|GLP2R	9705240|9705240	0.996000|0.996000	0.38824|0.38824	0.665000|0.665000	0.29768|0.29768	0.137000|0.137000	0.21094|0.21094	2.431000|2.431000	0.44775|0.44775	0.689000|0.689000	0.31550|0.31550	0.655000|0.655000	0.94253|0.94253	GGG|CAG		TCGA-IB-7651-01A-11D-2154-08	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4	1	0	1	122	463	0	76	0	2.826486e-01	0	5	0	76	2		0	0	0	0	0	2	1	1	118	453	0	74	2								-3.203770	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLP2R	9340	broad.mit.edu	37	17	9783772	9783772	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9783772A>C	ENST00000262441.5	+	11	1736	c.1223A>C	c.(1222-1224)cAa>cCa	p.Q408P	GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor			44				Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACTGATGATCAAGTTGAAGGA	0.378000																								0							SO:0001583	missense			ENST00000262441.5	1	1	hg19	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637962	0.29157	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.46063	0.88	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.405610	0.18344	N	0.144076	T	0.55986	0.1955	L	0.41710	1.295	0.35801	D	0.823106	D	0.69078	0.997	D	0.72982	0.979	T	0.64871	-0.6305	10	0.66056	D	0.02	.	14.0834	0.64939	1.0:0.0:0.0:0.0	.	408	O95838	GLP2R_HUMAN	P	408	ENSP00000262441:Q408P	ENSP00000262441:Q408P	Q	+	2	0	GLP2R	9724497	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	4.707000	0.61852	2.313000	0.78055	0.454000	0.30748	CAA		TCGA-IB-7651-01A-11D-2154-08	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4	1	0	0	40	859	0	145	0	3.785144e-02	0	7	0	145	2		0	0	0	0	0	2	1	1	40	840	0	145	2								-5.268768	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.540000	0.380000	1.000000	0.530000	0.586615	0.540000	0	4.500000e-01	6.700000e-01
GAS7	8522	broad.mit.edu	37	17	9821334	9821334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9821334T>C	ENST00000432992.2	-	13	1461	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G	GAS7_ENST00000542249.1_Missense_Mutation_p.D370G|GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000585266.1_Missense_Mutation_p.D374G|GAS7_ENST00000323816.4_Missense_Mutation_p.D374G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000579158.1_Missense_Mutation_p.D370G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Missense_Mutation_p.D139G	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7			39					GTTGAACATGTCTGTTTCATG	0.637000			T	MLL	AML*										Dom	yes		17	17p	8522	growth arrest-specific 7		L	0							SO:0001583	missense			ENST00000432992.2	1	1	hg19	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.920482	0.92249	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.40476	1.03;1.03	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.974;0.996	P;P;P;P	0.60541	0.761;0.876;0.669;0.876	T	0.36792	-0.9733	9	.	.	.	1.0203	14.3718	0.66846	0.0:0.0:0.0:1.0	.	386;374;294;434	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	G	434;374;373;294;139;374;83;248	ENSP00000379421:D374G;ENSP00000446214:D139G	.	D	-	2	0	GAS7	9762059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.868000	0.87116	2.235000	0.73313	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	1	0	1	43	187	0	33	0	9.999971e-01	0	88	0	33	2		0	0	0	0	0	2	1	1	43	183	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAS7	8522	broad.mit.edu	37	17	9837492	9837492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9837492G>T	ENST00000432992.2	-	9	1036	c.876C>A	c.(874-876)ttC>ttA	p.F292L	GAS7_ENST00000542249.1_Missense_Mutation_p.F228L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000585266.1_Missense_Mutation_p.F232L|GAS7_ENST00000323816.4_Missense_Mutation_p.F232L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000579158.1_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7			39					CCTTGGCAGAGAACTTGAGGT	0.532000			T	MLL	AML*										Dom	yes		17	17p	8522	growth arrest-specific 7		L	0							SO:0001583	missense			ENST00000432992.2	1	1	hg19	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929126	0.73327	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.15256	2.44	4.79	3.75	0.43078	Fps/Fes/Fer/CIP4 homology (2);	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	N	0.25647	0.755	0.58432	D	0.999997	P;P;B;P	0.52061	0.592;0.95;0.28;0.95	P;P;B;P	0.59424	0.688;0.857;0.144;0.835	T	0.01059	-1.1465	9	.	.	.	-14.102	5.7423	0.18100	0.1848:0.0:0.8152:0.0	.	244;232;152;292	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	L	292;232;231;152;232;106	ENSP00000379421:F232L	.	F	-	3	2	GAS7	9778217	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.687000	0.46976	2.506000	0.84524	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	1	0	1	22	166	0	42	0	9.984806e-01	1	80	0	42	2		0	0	0	0	0	2	1	9.999989e-01	22	161	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.920000	1.000000	1.000000	0.995271	0.990000	1	9.900000e-01	1
ABR	29	broad.mit.edu	37	17	994935	994935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:994935C>A	ENST00000302538.5	-	4	647	c.501G>T	c.(499-501)caG>caT	p.Q167H	ABR_ENST00000574437.1_Missense_Mutation_p.Q121H|ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|ABR_ENST00000544583.2_Missense_Mutation_p.Q121H	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related			39					CCATGGTGACCTGGCTGTCCC	0.562000													Esophageal Squamous(197;2016 2115 4129 29033 46447)											0							SO:0001583	missense			ENST00000302538.5	1	1	hg19	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627495	0.46944	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.63096	-0.02;-0.02;-0.02	6.04	0.793	0.18632	Dbl homology (DH) domain (5);	0.341955	0.34603	N	0.003837	T	0.42404	0.1201	N	0.11313	0.125	0.80722	D	1	P;B;P;B	0.50369	0.934;0.009;0.545;0.003	P;B;B;B	0.47102	0.537;0.021;0.221;0.005	T	0.30880	-0.9963	10	0.51188	T	0.08	.	6.4166	0.21719	0.0:0.5355:0.1223:0.3422	.	121;51;130;167	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	H	167;121;130;51	ENSP00000303909:Q167H;ENSP00000442048:Q121H;ENSP00000291107:Q130H	ENSP00000291107:Q130H	Q	-	3	2	ABR	941685	0.952000	0.32445	1.000000	0.80357	0.984000	0.73092	0.090000	0.15025	0.463000	0.27118	-0.251000	0.11542	CAG		TCGA-IB-7651-01A-11D-2154-08	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4	1	0	1	84	407	0	101	1	1	32	117	0	101	2		0	0	0	0	0	2	1	1	82	397	0	99	2								-3.167976	1	1	0	0		1	1	2	3	2.017774	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APCDD1	147495	broad.mit.edu	37	18	10471563	10471563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10471563G>A	ENST00000355285.5	+	3	633	c.279G>A	c.(277-279)agG>agA	p.R93R	APCDD1_ENST00000578882.1_Silent_p.R93R	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1			22					TCATCACAAGGTCCTACAGAT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000355285.5	1	1	hg19	CCDS11849.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	1	0	1	58	266	0	53	0	1	0	131	0	53	2		0	0	0	0	0	2	1	1	57	260	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPPE1	65258	broad.mit.edu	37	18	11887014	11887014	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:11887014C>T	ENST00000588072.1	-	7	1801	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	MPPE1_ENST00000344987.7_Missense_Mutation_p.V194I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V194I|MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1			5					ACGCTGTTGACCATCACAAAG	0.527000																								0							SO:0001583	missense			ENST00000588072.1	0	1	hg19	CCDS11853.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080787	0.36758	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;T;T	0.67523	2.3;2.3;2.3;-0.27;2.3	5.2	4.33	0.51752	Calcineurin-like phosphoesterase superfamily domain (1);	0.189358	0.45361	N	0.000364	T	0.67702	0.2921	L	0.42581	1.335	0.47862	D	0.999535	D;P;D;P;D;B	0.63880	0.993;0.521;0.99;0.708;0.987;0.391	P;B;P;B;P;B	0.60345	0.873;0.111;0.872;0.269;0.873;0.264	T	0.62872	-0.6762	10	0.17832	T	0.49	-8.2786	8.7735	0.34747	0.1489:0.7752:0.0:0.0759	.	194;194;97;194;194;194	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	I	194;194;97;194;194	ENSP00000327257:V194I;ENSP00000311200:V194I;ENSP00000312935:V97I;ENSP00000339423:V194I;ENSP00000382860:V194I	ENSP00000311200:V194I	V	-	1	0	MPPE1	11877014	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	2.348000	0.44045	1.189000	0.43028	-0.140000	0.14226	GTC		TCGA-IB-7651-01A-11D-2154-08	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	0	0	0	5	197	0	48	1	8.296446e-01	2	128	0	48	2		0	0	0	0	0	2	1	9.366879e-01	5	195	0	48	2								-6.991829	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.310000	0.110000	0.620000	0.290000	0.336035	0.310000	0	1.900000e-01	4.600000e-01
IMPA2	3613	broad.mit.edu	37	18	12014290	12014290	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12014290C>T	ENST00000269159.3	+	5	650	c.408C>T	c.(406-408)tgC>tgT	p.C136C	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2			12				Lithium(DB01356)	TTTACCACTGCACAGAGGAGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000269159.3	0	1	hg19	CCDS11855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1	0	0	0	29	180	1	24	1	7.526480e-01	39	104	1	24	17		0	0	0	0	0	2	1	7.733713e-01	29	174	1	22	24								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999633	0.990000	1	9.900000e-01	1
CIDEA	1149	broad.mit.edu	37	18	12262855	12262855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12262855C>T	ENST00000320477.9	+	2	135	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a			13					ACAGACTAAGCGAGTCCTGTT	0.502000																								0							SO:0001587	stop_gained			ENST00000320477.9	0	1	hg19	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262096	0.59431	.	.	ENSG00000176194	ENST00000320477	.	.	.	5.51	1.59	0.23543	.	1.472780	0.04843	N	0.440771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.8447	14.6318	0.68660	0.5299:0.4701:0.0:0.0	.	.	.	.	X	24	.	ENSP00000320209:R24X	R	+	1	2	CIDEA	12252855	0.005000	0.15991	0.002000	0.10522	0.344000	0.29017	0.786000	0.26844	0.394000	0.25230	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	1	0	1	83	401	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	82	394	0	97	2								-20.000000	1	1	121412	1	33	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIDEA	1149	broad.mit.edu	37	18	12264367	12264367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12264367C>T	ENST00000320477.9	+	3	310	c.245C>T	c.(244-246)aCc>aTc	p.T82I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a			13					GAAGATGGCACCGTGGTGGAC	0.507000																								0							SO:0001583	missense			ENST00000320477.9	1	1	hg19	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967822	0.92855	.	.	ENSG00000176194	ENST00000320477	T	0.61392	0.11	5.26	5.26	0.73747	Caspase-activated nuclease CIDE-N (3);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86880	0.2041	10	0.87932	D	0	-27.0824	18.486	0.90830	0.0:1.0:0.0:0.0	.	116;82	Q8N5P9;O60543	.;CIDEA_HUMAN	I	82	ENSP00000320209:T82I	ENSP00000320209:T82I	T	+	2	0	CIDEA	12254367	1.000000	0.71417	0.894000	0.35097	0.990000	0.78478	6.885000	0.75606	2.455000	0.83008	0.484000	0.47621	ACC		TCGA-IB-7651-01A-11D-2154-08	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	1	0	1	52	256	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	50	249	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBB6	84617	broad.mit.edu	37	18	12325894	12325894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12325894G>A	ENST00000317702.5	+	4	1340	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V			14					ACCTTCATCGGCAACAGCACG	0.612000																								0							SO:0001583	missense			ENST00000317702.5	1	1	hg19	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490287	0.64074	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.82433	-1.61	5.5	5.5	0.81552	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.97688	1.0177	10	0.87932	D	0	.	19.7727	0.96373	0.0:0.0:1.0:0.0	.	341;369	B4DP54;Q9BUF5	.;TBB6_HUMAN	D	369;297;341	ENSP00000318697:G369D	ENSP00000318697:G369D	G	+	2	0	TUBB6	12315894	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.666000	0.98612	2.758000	0.94735	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	1	0	1	224	935	0	256	1	1	51	312	0	256	2		0	0	0	0	0	2	1	1	223	920	0	255	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFG3L2	10939	broad.mit.edu	37	18	12353089	12353089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12353089C>T	ENST00000269143.3	-	10	1464	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2			27				Adenosine triphosphate(DB00171)	TCCTTCCCACCGCATCGATTT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000269143.3	1	1	hg19	CCDS11859.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	1	0	1	108	509	0	102	1	1	58	194	0	102	2		0	0	0	0	0	2	1	1	108	486	0	100	2								-2.647932	1	1	121412	1	32	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFG3L2	10939	broad.mit.edu	37	18	12358738	12358738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12358738C>A	ENST00000269143.3	-	8	1188	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2			27				Adenosine triphosphate(DB00171)	ATTCCATGATCTCTAGCTTGG	0.398000																								0							SO:0001583	missense			ENST00000269143.3	1	1	hg19	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179849	0.57800	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.57107	0.42	5.76	0.779	0.18550	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.80183	2.485	0.58432	D	0.999997	P	0.37864	0.61	B	0.36534	0.227	T	0.55398	-0.8147	10	0.87932	D	0	.	10.1341	0.42695	0.0:0.6623:0.0:0.3377	.	319	Q9Y4W6	AFG32_HUMAN	D	319;334	ENSP00000269143:E319D	ENSP00000269143:E319D	E	-	3	2	AFG3L2	12348738	0.998000	0.40836	0.988000	0.46212	0.984000	0.73092	0.611000	0.24268	0.069000	0.16605	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	1	0	1	66	238	0	72	1	1	66	165	0	72	2		0	0	0	0	0	2	1	1	65	237	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFG3L2	10939	broad.mit.edu	37	18	12367285	12367285	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12367285C>A	ENST00000269143.3	-	4	620	c.389G>T	c.(388-390)aGg>aTg	p.R130M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2			27				Adenosine triphosphate(DB00171)	CTTCTGAAACCTGGACCACCA	0.488000																								0							SO:0001583	missense			ENST00000269143.3	0	1	hg19	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923707	0.92319	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.93247	-3.19	5.72	5.72	0.89469	Peptidase M41, FtsH (1);	0.044203	0.85682	D	0.000000	D	0.95373	0.8498	M	0.75777	2.31	0.80722	D	1	D	0.56287	0.975	P	0.53593	0.73	D	0.94306	0.7541	10	0.38643	T	0.18	1.8025	19.4597	0.94912	0.0:1.0:0.0:0.0	.	130	Q9Y4W6	AFG32_HUMAN	M	130;145	ENSP00000269143:R130M	ENSP00000269143:R130M	R	-	2	0	AFG3L2	12357285	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.641000	0.74324	2.702000	0.92279	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	0	0	0	12	567	0	119	1	9.761360e-01	15	283	0	119	2		0	0	0	0	0	2	1	9.988973e-01	11	546	0	118	2								-2.370575	0	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.240000	0.130000	0.400000	0.240000	0.259854	0.240000	0	1.800000e-01	3.300000e-01
CEP76	79959	broad.mit.edu	37	18	12686292	12686292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12686292C>T	ENST00000262127.2	-	8	1316	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y|PSMG2_ENST00000589405.1_3'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa			21					CAGCAGAGTGCACCACTGCTC	0.408000																								0							SO:0001583	missense			ENST00000262127.2	1	1	hg19	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329103	0.41197	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80304	-1.36;-1.34	5.74	5.74	0.90152	.	0.086622	0.85682	D	0.000000	T	0.79941	0.4533	M	0.61703	1.905	0.58432	D	0.999999	P;P;P	0.47302	0.893;0.63;0.456	P;B;B	0.45310	0.476;0.142;0.188	T	0.76672	-0.2873	10	0.02654	T	1	-9.2993	19.9135	0.97033	0.0:1.0:0.0:0.0	.	289;364;186	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	Y	364;289	ENSP00000262127:C364Y;ENSP00000403074:C289Y	ENSP00000262127:C364Y	C	-	2	0	CEP76	12676292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.711000	0.92665	0.591000	0.81541	TGC		TCGA-IB-7651-01A-11D-2154-08	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	1	0	1	59	300	0	57	1	8.415399e-01	6	13	0	57	2		0	0	0	0	0	2	1	1	58	298	0	57	2								-3.339815	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP76	79959	broad.mit.edu	37	18	12699159	12699159	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12699159C>T	ENST00000262127.2	-	4	564	c.339G>A	c.(337-339)ttG>ttA	p.L113L	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa			21					CTTTTCCACCCAAAACCTGAA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000262127.2	1	1	hg19	CCDS11861.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	1	0	1	45	331	0	83	0	5.561367e-01	1	14	0	83	2		0	0	0	0	0	2	1	1	45	326	0	81	2								-2.559136	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999381	0.990000	1	9.900000e-01	1
PTPN2	5771	broad.mit.edu	37	18	12825835	12825835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12825835G>A	ENST00000309660.5	-	5	562	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y|PTPN2_ENST00000591115.1_Missense_Mutation_p.H157Y|PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2			13		Lung NSC(161;8.94e-06)			TGTAGTAGATGTACTGTATAA	0.338000																								0							SO:0001583	missense			ENST00000309660.5	1	1	hg19	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304357	0.60305	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.83075	-1.68;-1.68;-1.68	4.38	4.38	0.52667	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000185	D	0.84074	0.5392	N	0.17312	0.475	0.39042	D	0.960154	P;P;B;D;P	0.64830	0.755;0.712;0.268;0.994;0.755	P;P;B;D;P	0.67548	0.649;0.517;0.432;0.952;0.649	D	0.88039	0.2780	10	0.87932	D	0	.	17.5512	0.87876	0.0:0.0:1.0:0.0	.	157;157;134;157;157	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	Y	157;157;134;157	ENSP00000320298:H157Y;ENSP00000320546:H157Y;ENSP00000311857:H157Y	ENSP00000311857:H157Y	H	-	1	0	PTPN2	12815835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.597000	0.61062	2.424000	0.82194	0.558000	0.71614	CAT		TCGA-IB-7651-01A-11D-2154-08	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	0	0	0	10	270	0	52	1	8.577855e-01	2	95	0	52	2		0	0	0	0	0	2	1	9.966162e-01	10	263	0	54	2								-11.189720	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.420000	0.220000	0.720000	0.410000	0.448783	0.420000	0	3.100000e-01	5.700000e-01
CEP192	55125	broad.mit.edu	37	18	13059253	13059253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059253C>T	ENST00000325971.8	+	19	4235	c.2642C>T	c.(2641-2643)gCa>gTa	p.A881V	CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V|CEP192_ENST00000506447.1_Missense_Mutation_p.A1477V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa			71					ATCGTACAGGCAGAAGCTTTG	0.453000																								0							SO:0001583	missense			ENST00000325971.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.27	3.348313	0.61183	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80033	-1.33;-1.33;-1.33	5.08	5.08	0.68730	.	0.061993	0.64402	D	0.000005	D	0.88355	0.6414	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.989;0.998	P;P;D	0.65233	0.874;0.879;0.933	D	0.89379	0.3680	10	0.72032	D	0.01	-16.2963	18.8382	0.92171	0.0:1.0:0.0:0.0	.	1002;1477;881	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	V	1477;881;881;1002	ENSP00000427550:A1477V;ENSP00000317156:A881V;ENSP00000389190:A1002V	ENSP00000317156:A881V	A	+	2	0	CEP192	13049253	1.000000	0.71417	0.365000	0.25901	0.011000	0.07611	7.223000	0.78033	2.520000	0.84964	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	CEP192-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	110	455	0	105	1	9.327376e-01	3	18	0	105	2		0	0	0	0	0	2	1	1	106	445	0	103	2								-3.438015	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP192	55125	broad.mit.edu	37	18	13059273	13059273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059273G>A	ENST00000325971.8	+	19	4255	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I|CEP192_ENST00000506447.1_Missense_Mutation_p.V1484I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	p.V888I(1)		71					GGCCAGCACCGTCACTCTCAC	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000325971.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.33	3.601079	0.66332	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80653	-1.4;-1.4;-1.4	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.89760	0.6808	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.962;0.996	D	0.90832	0.4717	10	0.87932	D	0	-15.641	18.8382	0.92171	0.0:0.0:1.0:0.0	.	1009;1484;888	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	I	1484;888;888;1009	ENSP00000427550:V1484I;ENSP00000317156:V888I;ENSP00000389190:V1009I	ENSP00000317156:V888I	V	+	1	0	CEP192	13049273	1.000000	0.71417	0.586000	0.28679	0.022000	0.10575	9.136000	0.94489	2.520000	0.84964	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	CEP192-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	87	425	0	85	1	9.864834e-01	8	27	0	85	2		0	0	0	0	0	2	1	1	85	416	0	84	2								-20.000000	1	0	121412	8	40	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP192	55125	broad.mit.edu	37	18	13068922	13068922	+	Missense_Mutation	SNP	G	G	A	rs142781329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13068922G>A	ENST00000325971.8	+	23	4699	c.3106G>A	c.(3106-3108)Gtt>Att	p.V1036I	CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I|CEP192_ENST00000506447.1_Missense_Mutation_p.V1632I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa			71					CCCTACGCCCGTTCTTAGAAG	0.473000																								0							SO:0001583	missense			ENST00000325971.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.910	0.736223	0.15574	0.0	1.16E-4	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.58060	0.36;0.36;0.36	5.77	2.03	0.26663	.	0.287772	0.32852	N	0.005567	T	0.31231	0.0790	L	0.38175	1.15	0.24190	N	0.995551	P;P;B	0.44627	0.725;0.839;0.108	B;B;B	0.31946	0.073;0.138;0.029	T	0.23691	-1.0181	10	0.14252	T	0.57	-3.5773	9.756	0.40504	0.3947:0.0:0.6053:0.0	.	1157;1632;234	C9JT09;E9PF99;Q9HCK3	.;.;.	I	1632;1036;1036;1157	ENSP00000427550:V1632I;ENSP00000317156:V1036I;ENSP00000389190:V1157I	ENSP00000317156:V1036I	V	+	1	0	CEP192	13058922	0.936000	0.31750	0.027000	0.17364	0.003000	0.03518	1.456000	0.35201	0.472000	0.27344	-0.749000	0.03505	GTT		TCGA-IB-7651-01A-11D-2154-08	CEP192-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	113	458	0	115	1	9.976388e-01	10	29	0	115	2		0	0	0	0	0	2	1	1	112	450	0	114	2								-20.000000	1	1	121412	1	37	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MC5R	4161	broad.mit.edu	37	18	13826258	13826258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13826258G>A	ENST00000324750.3	+	1	716	c.494G>A	c.(493-495)gGc>gAc	p.G165D	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor			41					ATCATCGCCGGCATCTGGGCT	0.567000																								0							SO:0001583	missense			ENST00000324750.3	1	1	hg19	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944955	0.34283	.	.	ENSG00000176136	ENST00000324750	T	0.39787	1.06	5.01	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.150554	0.64402	D	0.000011	T	0.52075	0.1712	M	0.81341	2.54	0.33894	D	0.637674	P	0.44006	0.824	P	0.46299	0.511	T	0.69154	-0.5220	10	0.87932	D	0	.	12.9262	0.58262	0.0:0.0:0.705:0.295	.	165	P33032	MC5R_HUMAN	D	165	ENSP00000318077:G165D	ENSP00000318077:G165D	G	+	2	0	MC5R	13816258	1.000000	0.71417	0.488000	0.27440	0.041000	0.13682	5.258000	0.65479	0.459000	0.27016	0.455000	0.32223	GGC		TCGA-IB-7651-01A-11D-2154-08	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	1	0	0	412	1647	0	316		0	0	0	0	316	2		0	0	0	0	0	2	1	1	406	1627	0	312	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MC2R	4158	broad.mit.edu	37	18	13884791	13884791	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884791T>C	ENST00000327606.3	-	2	907	c.727A>G	c.(727-729)Aca>Gca	p.T243A		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)			30				Corticotropin(DB01285)|Cosyntropin(DB01284)	GGGCAGAATGTCATCAAGAGG	0.532000													Colon(141;1584 1782 35999 48227 48692)											0							SO:0001583	missense			ENST00000327606.3	1	1	hg19	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013816	0.54468	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.35789	1.29	5.18	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.206931	0.49916	D	0.000128	T	0.25938	0.0632	N	0.25144	0.715	0.26256	N	0.978658	P	0.39424	0.673	B	0.40702	0.338	T	0.10730	-1.0617	10	0.66056	D	0.02	.	8.1081	0.30898	0.0:0.1569:0.0:0.8431	.	243	Q01718	ACTHR_HUMAN	A	243	ENSP00000333821:T243A	ENSP00000333821:T243A	T	-	1	0	MC2R	13874791	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.002000	0.49496	0.806000	0.34183	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2	1	0	1	51	278	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	51	275	0	70	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MC2R	4158	broad.mit.edu	37	18	13884825	13884825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884825G>T	ENST00000327606.3	-	2	873	c.693C>A	c.(691-693)tgC>tgA	p.C231*		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)			30				Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGGGGCCCAGCAGAAGATGA	0.557000													Colon(141;1584 1782 35999 48227 48692)											0							SO:0001587	stop_gained			ENST00000327606.3	0	1	hg19	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843803	0.91197	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	.	.	.	5.18	-7.84	0.01196	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.112	0.93319	0.3369:0.0:0.6631:0.0	.	.	.	.	X	231	.	ENSP00000333821:C231X	C	-	3	2	MC2R	13874825	0.045000	0.20229	0.881000	0.34555	0.989000	0.77384	-0.731000	0.04909	-1.429000	0.01987	-0.302000	0.09304	TGC		TCGA-IB-7651-01A-11D-2154-08	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2	1	0	1	48	230	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	1	46	226	0	59	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF519	162655	broad.mit.edu	37	18	14105441	14105441	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14105441G>A	ENST00000590202.1	-	3	1250	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519			18					GGATTCTCTGGTGTTGAGTAA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000590202.1	1	0	hg19	CCDS32797.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	1	0	1	115	545	0	164	1	2.841851e-01	2	4	0	164	2		0	0	0	0	0	2	1	1	112	529	0	162	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP14	9097	broad.mit.edu	37	18	163369	163369	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:163369A>G	ENST00000261601.7	+	2	169	c.78A>G	c.(76-78)ccA>ccG	p.P26P	USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000383589.2_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)			11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)			ATGAACCTCCAATGGTATTCA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000261601.7	1	1	hg19	CCDS32780.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	1	0	1	50	182	0	43	1	1	28	115	0	43	2		0	0	0	0	0	2	1	1	50	181	0	43	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
ROCK1	6093	broad.mit.edu	37	18	18588085	18588085	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18588085C>A	ENST00000399799.2	-	14	2421	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1			16	Melanoma(1;0.165)				CTCATTAATTCTATGCTGTAG	0.313000																								0							SO:0001583	missense			ENST00000399799.2	1	1	hg19	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450332	0.84101	.	.	ENSG00000067900	ENST00000399799	D	0.82619	-1.63	5.46	3.69	0.42338	.	0.055889	0.64402	D	0.000001	T	0.79551	0.4465	L	0.47716	1.5	0.58432	D	0.999997	B	0.28178	0.202	B	0.36335	0.222	T	0.76740	-0.2848	10	0.62326	D	0.03	.	10.0434	0.42173	0.0:0.7669:0.0:0.2331	.	494	Q13464	ROCK1_HUMAN	I	494	ENSP00000382697:R494I	ENSP00000382697:R494I	R	-	2	0	ROCK1	16842083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.180000	0.58296	0.872000	0.35775	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	1	0	1	32	151	0	45	1	1	44	177	0	45	2		0	0	0	0	0	2	1	1	30	148	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ROCK1	6093	broad.mit.edu	37	18	18622107	18622107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18622107C>T	ENST00000399799.2	-	8	1850	c.910G>A	c.(910-912)Gac>Aac	p.D304N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1			16	Melanoma(1;0.165)				TTTGATATGTCATTATCATCA	0.313000																								0							SO:0001583	missense			ENST00000399799.2	1	1	hg19	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819112	0.90873	.	.	ENSG00000067900	ENST00000399799	T	0.65178	-0.14	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048434	0.85682	D	0.000000	T	0.44222	0.1283	N	0.03891	-0.335	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.42899	-0.9424	10	0.87932	D	0	.	19.2789	0.94044	0.0:1.0:0.0:0.0	.	304	Q13464	ROCK1_HUMAN	N	304	ENSP00000382697:D304N	ENSP00000382697:D304N	D	-	1	0	ROCK1	16876105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.774000	0.95407	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	1	0	0	15	407	0	75	1	9.232243e-01	4	118	0	75	2		0	0	0	0	0	2	1	9.998628e-01	15	401	0	75	2								-3.605575	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.420000	0.240000	0.650000	0.410000	0.436831	0.420000	0	3.200000e-01	5.400000e-01
ESCO1	114799	broad.mit.edu	37	18	19144199	19144199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19144199C>A	ENST00000269214.5	-	7	2723	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1			35					TTCTCTGCTTCTTTTAGTTTC	0.313000																								0							SO:0001587	stop_gained			ENST00000269214.5	0	1	hg19	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	47	13.135262	0.99722	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	4.92	4.92	0.64577	.	0.348404	0.30193	N	0.010188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.8435	17.4868	0.87691	0.0:1.0:0.0:0.0	.	.	.	.	X	596	.	ENSP00000269214:E596X	E	-	1	0	ESCO1	17398197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.708000	0.61859	2.456000	0.83038	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	1	0	1	15	69	0	20	1	9.962622e-01	4	43	0	20	2		0	0	0	0	0	2	1	9.999168e-01	15	68	0	20	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999321	0.990000	1	9.900000e-01	1
ESCO1	114799	broad.mit.edu	37	18	19147945	19147945	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19147945A>C	ENST00000269214.5	-	5	2578	c.1641T>G	c.(1639-1641)ttT>ttG	p.F547L		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1			35					TATTACCTGGAAATTTATTCT	0.328000																								0							SO:0001583	missense			ENST00000269214.5	1	1	hg19	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055098	0.36277	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57436	0.4;1.96	5.6	5.6	0.85130	.	0.289111	0.30695	N	0.009075	T	0.46580	0.1400	L	0.57536	1.79	0.31686	N	0.642527	B	0.06786	0.001	B	0.04013	0.001	T	0.50524	-0.8818	10	0.24483	T	0.36	-5.9452	10.3972	0.44207	0.8546:0.0:0.0:0.1454	.	547	Q5FWF5	ESCO1_HUMAN	L	547	ENSP00000269214:F547L;ENSP00000372763:F547L	ENSP00000269214:F547L	F	-	3	2	ESCO1	17401943	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.733000	0.47360	2.260000	0.74910	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	1	0	0	85	300	0	61	1	9.999296e-01	12	40	0	61	2		0	0	0	0	0	2	1	1	85	293	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESCO1	114799	broad.mit.edu	37	18	19154572	19154572	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19154572T>G	ENST00000269214.5	-	4	1170	c.233A>C	c.(232-234)aAa>aCa	p.K78T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1			35					TTTAGTAGCTTTATCATTAGA	0.323000																								0							SO:0001583	missense			ENST00000269214.5	1	1	hg19	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470443	0.04445	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.61510	0.1;1.66	5.73	3.32	0.38043	.	0.327087	0.28778	N	0.014166	T	0.41880	0.1178	L	0.40543	1.245	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.21930	-1.0231	10	0.17369	T	0.5	-5.9998	6.6306	0.22855	0.1365:0.0721:0.0:0.7914	.	78	Q5FWF5	ESCO1_HUMAN	T	78	ENSP00000269214:K78T;ENSP00000372763:K78T	ENSP00000269214:K78T	K	-	2	0	ESCO1	17408570	0.998000	0.40836	0.005000	0.12908	0.039000	0.13416	1.947000	0.40293	0.515000	0.28320	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	1	0	1	206	820	0	178	1	9.997741e-01	14	36	0	178	2		0	0	0	0	0	2	1	1	204	810	0	177	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD3	171586	broad.mit.edu	37	18	19283700	19283700	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19283700C>T	ENST00000289119.2	-	2	310	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000580981.1_Silent_p.Q57Q	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3			10					CGGTCACTAACTGGGGTTTCT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000289119.2	1	1	hg19	CCDS32802.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1	1	0	1	38	228	0	60	1	9.998840e-01	23	62	0	60	2		0	0	0	0	0	2	1	1	37	224	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
MIB1	57534	broad.mit.edu	37	18	19437203	19437203	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19437203C>T	ENST00000261537.6	+	19	3042	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1			27			STAD - Stomach adenocarcinoma(5;0.212)		CTGATGATATCTGTAAGTCGA	0.383000																								0							SO:0001630	splice_region_variant			ENST00000261537.6	1	0	hg19	CCDS11871.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	1	0	1	39	182	0	37	1	9.999986e-01	15	86	0	37	2		0	0	0	0	0	2	1	1	39	176	0	37	2								-3.067359	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
USP14	9097	broad.mit.edu	37	18	197615	197615	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:197615G>T	ENST00000261601.7	+	8	685		c.e8-1		USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000383589.2_Splice_Site|USP14_ENST00000582707.1_Splice_Site	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)			11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)			TTACATTACAGGATGCTAATG	0.338000																								0							SO:0001630	splice_region_variant			ENST00000261601.7	1	1	hg19	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475467	0.63737	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP14	187615	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	9.262000	0.95591	2.695000	0.91970	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	1	0	1	34	209	0	38	0	2.090592e-02	1	1	0	38	2		0	0	0	0	0	2	1	1	34	209	0	38	2								-2.970502	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999900	0.990000	1	9.900000e-01	1
RBBP8	5932	broad.mit.edu	37	18	20573396	20573396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20573396C>T	ENST00000399722.2	+	11	1957	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C|RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C|RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8			24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)		TTCCTCAAGCCGTAAGGCCTC	0.468000								Homologous recombination																0							SO:0001583	missense			ENST00000399722.2	1	1	hg19	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015832	0.19355	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.34667	1.38;1.35;1.38;1.37;1.38	5.97	2.82	0.32997	.	0.620350	0.16787	N	0.199531	T	0.33147	0.0853	L	0.55481	1.735	0.40353	D	0.979157	B;B;B	0.19817	0.018;0.014;0.039	B;B;B	0.10450	0.005;0.002;0.005	T	0.25502	-1.0130	10	0.87932	D	0	-0.5355	10.2979	0.43635	0.0:0.7571:0.0:0.2429	.	536;536;536	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	536	ENSP00000323050:R536C;ENSP00000382630:R536C;ENSP00000382628:R536C;ENSP00000382627:R536C;ENSP00000354024:R536C	ENSP00000323050:R536C	R	+	1	0	RBBP8	18827394	0.002000	0.14202	0.674000	0.29902	0.466000	0.32739	0.826000	0.27407	0.864000	0.35578	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	1	0	1	55	219	0	70	1	1	37	81	0	70	2		0	0	0	0	0	2	1	1	54	208	0	67	2								-3.140394	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CABLES1	91768	broad.mit.edu	37	18	20716380	20716380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20716380G>T	ENST00000256925.7	+	1	654	c.654G>T	c.(652-654)caG>caT	p.Q218H	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1			11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)				TCAGCGTGCAGGTGCCGGCGG	0.701000																								0							SO:0001583	missense			ENST00000256925.7	0	1	hg19	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262652	0.39995	.	.	ENSG00000134508	ENST00000256925	T	0.50277	0.75	3.54	1.59	0.23543	.	0.350198	0.29707	N	0.011403	T	0.30386	0.0763	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05818	-1.0862	10	0.29301	T	0.29	-0.8505	10.6056	0.45392	0.0:0.3801:0.6199:0.0	.	218	Q8TDN4	CABL1_HUMAN	H	218	ENSP00000256925:Q218H	ENSP00000256925:Q218H	Q	+	3	2	CABLES1	18970378	0.996000	0.38824	1.000000	0.80357	0.746000	0.42486	0.386000	0.20702	0.264000	0.21851	0.456000	0.33151	CAG		TCGA-IB-7651-01A-11D-2154-08	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	1	0	0	13	68	0	14	0	5.122737e-01	0	10	0	14	2		0	0	0	0	0	2	1	9.996586e-01	13	67	0	13	2								-19.999590	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.997589	0.990000	1	9.900000e-01	1
CABLES1	91768	broad.mit.edu	37	18	20815979	20815979	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20815979G>T	ENST00000256925.7	+	6	1306	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C|CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1			11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)				CCTCTCCATAGGCCGGGCAAG	0.597000																								0							SO:0001583	missense			ENST00000256925.7	1	1	hg19	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682669	0.88542	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.46819	0.92;0.86;0.9	4.94	4.94	0.65067	.	0.099785	0.64402	D	0.000002	T	0.63698	0.2533	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.76575	0.823;0.988	T	0.65455	-0.6164	10	0.62326	D	0.03	-14.8556	18.3672	0.90396	0.0:0.0:1.0:0.0	.	171;436	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	C	109;436;171	ENSP00000383321:G109C;ENSP00000256925:G436C;ENSP00000413851:G171C	ENSP00000256925:G436C	G	+	1	0	CABLES1	19069977	1.000000	0.71417	0.423000	0.26634	0.849000	0.48306	9.386000	0.97228	2.571000	0.86741	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	0	0	0	18	636	0	88	0	2.161827e-01	1	29	0	88	2		0	0	0	0	0	2	1	9.999793e-01	18	627	0	87	2								-3.547395	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.320000	0.190000	0.490000	0.320000	0.336703	0.320000	0	2.500000e-01	4.100000e-01
RIOK3	8780	broad.mit.edu	37	18	21053554	21053554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21053554G>A	ENST00000339486.3	+	8	1594	c.977G>A	c.(976-978)cGc>cAc	p.R326H	RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H|RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3			10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)				AAGATCATCCGCATGTGGGCA	0.323000																								0							SO:0001583	missense			ENST00000339486.3	1	1	hg19	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282646	0.59867	.	.	ENSG00000101782	ENST00000339486	T	0.07567	3.18	5.05	5.05	0.67936	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.35288	1.05	0.80722	D	1	P;P;P	0.44260	0.55;0.796;0.83	B;B;B	0.30943	0.084;0.074;0.122	T	0.32079	-0.9920	10	0.41790	T	0.15	.	18.4658	0.90753	0.0:0.0:1.0:0.0	.	310;326;326	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	H	326	ENSP00000341874:R326H	ENSP00000341874:R326H	R	+	2	0	RIOK3	19307552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.941000	0.87700	2.350000	0.79820	0.579000	0.79373	CGC		TCGA-IB-7651-01A-11D-2154-08	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	1	0	1	38	145	0	33	1	1	71	194	0	33	2		0	0	0	0	0	2	1	1	38	144	0	33	2								-19.999950	1	1	121410	1	36	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIOK3	8780	broad.mit.edu	37	18	21057190	21057190	+	Silent	SNP	C	C	T	rs56187215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21057190C>T	ENST00000339486.3	+	11	1919	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	RIOK3_ENST00000581585.1_Silent_p.H418H|RIOK3_ENST00000577501.1_Silent_p.H434H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3			10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)				CCCACCCTCACGGCCTGGAGT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000339486.3	1	1	hg19	CCDS11877.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	1	0	1	101	386	0	98	1	1	53	168	0	98	2		0	0	0	0	0	2	1	1	99	379	0	97	2								-20.000000	1	1	121412	6	42	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C18orf8	29919	broad.mit.edu	37	18	21083650	21083650	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21083650T>C	ENST00000269221.3	+	1	178	c.68T>C	c.(67-69)gTc>gCc	p.V23A	C18orf8_ENST00000590868.1_Missense_Mutation_p.V23A	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8			21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)				GCGAACCCTGTCAACTGCGTC	0.741000																								0							SO:0001583	missense			ENST00000269221.3	1	1	hg19	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980534	0.74474	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.15834	2.39	4.54	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.24721	0.067;0.11	B;B	0.17433	0.008;0.018	T	0.03619	-1.1019	10	0.07644	T	0.81	-28.803	9.3776	0.38292	0.0:0.0858:0.0:0.9142	.	23;23	Q96DM3;F5H2W0	MIC1_HUMAN;.	A	23	ENSP00000269221:V23A	ENSP00000269221:V23A	V	+	2	0	C18orf8	19337648	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.103000	0.64578	1.675000	0.50919	0.460000	0.39030	GTC		TCGA-IB-7651-01A-11D-2154-08	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	1	0	0	58	307	0	54	1	9.986934e-01	15	40	0	54	2		0	0	0	0	0	2	1	9.999976e-01	58	305	1	53	21								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C18orf8	29919	broad.mit.edu	37	18	21084355	21084355	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21084355T>C	ENST00000269221.3	+	2	233	c.123T>C	c.(121-123)ggT>ggC	p.G41G	C18orf8_ENST00000590868.1_Silent_p.G41G	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8			21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)				TTCGATCTGGTGGAGCTACTG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000269221.3	1	1	hg19	CCDS32803.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	0	0	1	111	506	1	143	1	9.993065e-01	12	50	1	143	3		0	0	0	0	0	2	1	1	106	490	0	143	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C18orf8	29919	broad.mit.edu	37	18	21106645	21106645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21106645C>A	ENST00000269221.3	+	13	1215	c.1105C>A	c.(1105-1107)Ctc>Atc	p.L369I	C18orf8_ENST00000590868.1_Missense_Mutation_p.L321I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8			21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)				CATAGTAAATCTCTTACCAGA	0.428000																								0							SO:0001583	missense			ENST00000269221.3	1	1	hg19	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574645	0.65878	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.61387	1.9	0.80722	D	1	P	0.45126	0.851	B	0.37550	0.253	T	0.46992	-0.9151	9	0.32370	T	0.25	-20.1358	11.832	0.52301	0.0:0.9194:0.0:0.0806	.	369	Q96DM3	MIC1_HUMAN	I	369;212;321;212	.	ENSP00000269221:L369I	L	+	1	0	C18orf8	19360643	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	4.630000	0.61297	2.407000	0.81776	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	1	0	0	31	344	0	62	1	9.984667e-01	10	102	0	62	2		0	0	0	0	0	2	1	1	31	340	0	62	2								-20.000000	1	1	121412	1	30	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.960000	0.670000	1.000000	1.000000	0.923873	0.960000	1	8.100000e-01	1
NPC1	4864	broad.mit.edu	37	18	21116663	21116663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21116663G>A	ENST00000269228.5	-	21	3773	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G	NPC1_ENST00000412552.2_Silent_p.G755G	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1			38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)				GGTAGGCACTGCCGTTAATGC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000269228.5	0	1	hg19	CCDS11878.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	0	0	0	5	170	0	36	1	9.248916e-01	4	158	0	36	2		0	0	0	0	0	2	1	9.365572e-01	5	168	0	34	2								-3.681352	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.350000	0.130000	0.710000	0.330000	0.385702	0.350000	0	2.300000e-01	5.300000e-01
NPC1	4864	broad.mit.edu	37	18	21121149	21121149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21121149G>T	ENST00000269228.5	-	16	2951	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1			38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)				CTCTGACACAGCAAAAGATGT	0.443000																								0							SO:0001587	stop_gained			ENST00000269228.5	0	1	hg19	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	38	7.037544	0.98021	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	.	.	.	5.89	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.0474	10.5037	0.44821	0.1421:0.0:0.8579:0.0	.	.	.	.	X	799;481;644	.	ENSP00000269228:C799X	C	-	3	2	NPC1	19375147	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.812000	0.47994	2.793000	0.96121	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	1	72	373	0	72	1	1	10	141	0	72	2		0	0	0	0	0	2	1	1	71	362	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPC1	4864	broad.mit.edu	37	18	21134834	21134834	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21134834T>C	ENST00000269228.5	-	9	1995	c.1441A>G	c.(1441-1443)Att>Gtt	p.I481V	NPC1_ENST00000412552.2_Missense_Mutation_p.I231V|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1			38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)				ACACTCAAAATGGTGCAGTTC	0.448000																								0							SO:0001583	missense			ENST00000269228.5	1	1	hg19	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081134	0.55753	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.81908	-1.55;-1.55	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	L	0.41573	1.285	0.41445	D	0.987945	B;B	0.31790	0.224;0.34	B;B	0.37091	0.07;0.241	T	0.72750	-0.4199	10	0.11485	T	0.65	-24.1019	14.7895	0.69830	0.0:0.0:0.0:1.0	.	492;481	Q59GR1;O15118	.;NPC1_HUMAN	V	481;231;326	ENSP00000269228:I481V;ENSP00000408606:I231V	ENSP00000269228:I481V	I	-	1	0	NPC1	19388832	1.000000	0.71417	0.980000	0.43619	0.981000	0.71138	4.056000	0.57448	1.945000	0.56424	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	1	47	196	0	67	1	9.999997e-01	45	53	0	67	2		0	0	0	0	0	2	1	1	46	193	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPC1	4864	broad.mit.edu	37	18	21148813	21148813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21148813T>C	ENST00000269228.5	-	4	991	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1			38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)				TCCGACGTAGTATTGTAACTC	0.378000																								0							SO:0001583	missense			ENST00000269228.5	1	1	hg19	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444146	0.63067	.	.	ENSG00000141458	ENST00000269228	D	0.91295	-2.82	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82630	2.6	0.80722	D	1	P	0.40619	0.724	P	0.45195	0.473	D	0.93099	0.6507	10	0.52906	T	0.07	-33.6711	16.3798	0.83452	0.0:0.0:0.0:1.0	.	146	O15118	NPC1_HUMAN	C	146	ENSP00000269228:Y146C	ENSP00000269228:Y146C	Y	-	2	0	NPC1	19402811	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.846000	0.86887	2.271000	0.75665	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	1	53	314	0	61	1	9.998274e-01	5	73	0	61	2		0	0	0	0	0	2	1	1	53	309	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
LAMA3	3909	broad.mit.edu	37	18	21390456	21390456	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21390456C>A	ENST00000313654.9	+	13	1971	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	LAMA3_ENST00000399516.3_Missense_Mutation_p.P577H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3			128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				TATGATTTCCCCCACTGCCAA	0.557000																								0							SO:0001583	missense			ENST00000313654.9	0	1	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510358	0.85389	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.62788	-0.0;-0.0	4.8	4.8	0.61643	EGF-like, laminin (4);	.	.	.	.	D	0.84502	0.5486	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88716	0.3226	9	0.72032	D	0.01	.	17.6374	0.88127	0.0:1.0:0.0:0.0	.	577;577	Q6VU67;Q16787	.;LAMA3_HUMAN	H	577;577;575	ENSP00000324532:P577H;ENSP00000382432:P577H	ENSP00000324532:P577H	P	+	2	0	LAMA3	19644454	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.925000	0.75829	2.516000	0.84829	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	0	0	9	391	0	70	0	3.914522e-03	1	3	0	70	2		0	0	0	0	0	2	1	9.934961e-01	9	379	0	69	2								-2.826916	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.270000	0.130000	0.470000	0.260000	0.287770	0.270000	0	1.900000e-01	3.700000e-01
LAMA3	3909	broad.mit.edu	37	18	21494442	21494442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21494442C>T	ENST00000313654.9	+	57	7639	c.7398C>T	c.(7396-7398)gaC>gaT	p.D2466D	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D801D|LAMA3_ENST00000269217.6_Silent_p.D857D|LAMA3_ENST00000399516.3_Silent_p.D2410D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3			128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				ACCTGGGGGACCGTGAGGCTG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000313654.9	1	1	hg19	CCDS42419.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	1	0	1	48	222	0	51	1	1	96	130	0	51	2		0	0	0	0	0	2	1	1	48	220	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA3	3909	broad.mit.edu	37	18	21496608	21496608	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21496608G>T	ENST00000313654.9	+	60	8113	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H|LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3			128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				CCTTTGGACAGACAATTCAGA	0.428000																								0							SO:0001583	missense			ENST00000313654.9	1	1	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391060	0.62066	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79033	-1.23;-1.23;-1.23	5.76	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.82121	0.4968	M	0.65975	2.015	0.37623	D	0.921377	D;D;D;D	0.71674	0.965;0.965;0.992;0.998	P;P;P;P	0.58391	0.708;0.708;0.789;0.838	T	0.82168	-0.0591	9	0.66056	D	0.02	.	9.6372	0.39817	0.3361:0.0:0.6639:0.0	.	959;1015;2568;2624	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	H	2624;2568;1015	ENSP00000324532:Q2624H;ENSP00000382432:Q2568H;ENSP00000269217:Q1015H	ENSP00000269217:Q1015H	Q	+	3	2	LAMA3	19750606	0.990000	0.36364	0.056000	0.19401	0.835000	0.47333	1.937000	0.40193	0.098000	0.17522	-0.266000	0.10368	CAG		TCGA-IB-7651-01A-11D-2154-08	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	0	1	28	700	0	133	1	9.998060e-01	40	286	0	133	2		0	0	0	0	0	2	1	1	27	681	0	132	2								-3.790664	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.450000	0.300000	0.630000	0.450000	0.462184	0.450000	0	3.700000e-01	5.400000e-01
LAMA3	3909	broad.mit.edu	37	18	21519246	21519246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21519246C>A	ENST00000313654.9	+	68	9163	c.8922C>A	c.(8920-8922)tgC>tgA	p.C2974*	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.C1365*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3			128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				AAGATGCTTGCTCACCACTTC	0.542000																								0							SO:0001587	stop_gained			ENST00000313654.9	0	1	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	48	14.830680	0.99812	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.28	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8599	0.35251	0.1477:0.7671:0.0:0.0852	.	.	.	.	X	2974;2918;1365	.	ENSP00000269217:C1365X	C	+	3	2	LAMA3	19773244	0.399000	0.25287	0.187000	0.23214	0.067000	0.16453	0.313000	0.19415	0.728000	0.32382	-1.134000	0.01955	TGC		TCGA-IB-7651-01A-11D-2154-08	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	0	0	37	860	1	187	0	9.507738e-01	2	366	1	187	9		0	0	0	0	0	2	1	9.980703e-01	37	851	1	184	17								-4.641924	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.480000	0.340000	0.640000	0.480000	0.492412	0.480000	0	4.000000e-01	5.700000e-01
LAMA3	3909	broad.mit.edu	37	18	21529773	21529773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21529773G>A	ENST00000313654.9	+	71	9637	c.9396G>A	c.(9394-9396)caG>caA	p.Q3132Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q1467Q|LAMA3_ENST00000269217.6_Silent_p.Q1523Q|LAMA3_ENST00000399516.3_Silent_p.Q3076Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3			128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				AGAACTTTCAGCTGGATTCAA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000313654.9	1	1	hg19	CCDS42419.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	1	0	1	51	264	0	55	1	1	309	277	0	55	2		0	0	0	0	0	2	1	1	50	260	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC39C	125488	broad.mit.edu	37	18	21660833	21660833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21660833G>T	ENST00000317571.3	+	5	981	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C			19					TTTTCCTGGAGACCGCCTACA	0.478000																								0							SO:0001583	missense			ENST00000317571.3	0	1	hg19	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.703674	0.88924	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73994	-0.3807	10	0.87932	D	0	-21.0511	20.023	0.97509	0.0:0.0:1.0:0.0	.	249	Q8N584	TT39C_HUMAN	Y	188;249	ENSP00000306598:D188Y;ENSP00000323645:D249Y	ENSP00000306598:D188Y	D	+	1	0	TTC39C	19914831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.733000	0.93635	0.552000	0.68991	GAC		TCGA-IB-7651-01A-11D-2154-08	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	0	0	0	8	261	0	68	0	3.645505e-02	0	9	0	68	2		0	0	0	0	0	2	1	9.886652e-01	8	255	0	68	2								-9.088206	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.360000	0.170000	0.640000	0.340000	0.381827	0.360000	0	2.500000e-01	5.000000e-01
TTC39C	125488	broad.mit.edu	37	18	21705488	21705488	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21705488T>A	ENST00000317571.3	+	10	1630	c.1394T>A	c.(1393-1395)tTc>tAc	p.F465Y	TTC39C_ENST00000304621.6_Missense_Mutation_p.F404Y|TTC39C_ENST00000540918.2_Missense_Mutation_p.F158Y|RNU5A-6P_ENST00000384136.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C			19					AACTGTTCCTTCCCCAACCTG	0.463000																								0							SO:0001583	missense			ENST00000317571.3	1	0	hg19	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656275	0.47467	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.42131	0.98;0.98;0.98	5.69	4.53	0.55603	.	0.494478	0.25372	N	0.031152	T	0.23492	0.0568	N	0.08118	0	0.23366	N	0.997822	B	0.25169	0.119	B	0.21708	0.036	T	0.16719	-1.0393	10	0.51188	T	0.08	2.9698	10.5536	0.45103	0.0:0.0735:0.0:0.9265	.	465	Q8N584	TT39C_HUMAN	Y	404;465;158	ENSP00000306598:F404Y;ENSP00000323645:F465Y;ENSP00000443016:F158Y	ENSP00000306598:F404Y	F	+	2	0	TTC39C	19959486	0.863000	0.29885	0.987000	0.45799	0.716000	0.41182	2.397000	0.44477	1.092000	0.41356	0.482000	0.46254	TTC		TCGA-IB-7651-01A-11D-2154-08	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	1	0	1	84	384	0	97	1	9.916602e-01	5	31	0	97	2		0	0	0	0	0	2	1	1	84	375	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CABYR	26256	broad.mit.edu	37	18	21735930	21735930	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21735930A>G	ENST00000399496.3	+	4	630	c.465A>G	c.(463-465)tcA>tcG	p.S155S	CABYR_ENST00000327201.6_Silent_p.S57S|CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000399499.1_Silent_p.S155S|CABYR_ENST00000415309.2_Silent_p.S155S|CABYR_ENST00000399481.2_Silent_p.S57S	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated			11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)				CACCCTCATCACCACCTCCAA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000399496.3	1	1	hg19	CCDS42420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	0	0	0	17	468	0	99	0	8.286987e-02	0	13	0	99	2		0	0	0	0	0	2	1	9.999568e-01	17	455	0	99	2								-3.989085	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.410000	0.250000	0.620000	0.410000	0.428526	0.410000	0	3.200000e-01	5.200000e-01
OSBPL1A	114876	broad.mit.edu	37	18	21758017	21758017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21758017C>A	ENST00000319481.3	-	21	2259	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*|OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A			36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)				GGTTCTGCTTCTACACTCTTC	0.433000																								0							SO:0001587	stop_gained			ENST00000319481.3	0	1	hg19	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	43	9.889204	0.99288	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.2574	19.9857	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	685;172;303	.	ENSP00000320291:E685X	E	-	1	0	OSBPL1A	20012015	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.081000	0.71309	2.724000	0.93272	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	1	0	1	74	313	0	55	0	1	1	136	0	55	2		0	0	0	0	0	2	1	1	73	304	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL1A	114876	broad.mit.edu	37	18	21805159	21805159	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21805159G>T	ENST00000319481.3	-	17	1654	c.1448C>A	c.(1447-1449)tCc>tAc	p.S483Y	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A			36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)				TTCGGACTCGGAATCTGTGGC	0.483000																								0							SO:0001583	missense			ENST00000319481.3	1	1	hg19	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832775	0.71258	.	.	ENSG00000141447	ENST00000319481;ENST00000357041	T;T	0.49720	0.77;0.82	5.98	5.11	0.69529	.	.	.	.	.	T	0.65491	0.2696	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.971	D;P	0.64042	0.921;0.641	T	0.66685	-0.5861	9	0.41790	T	0.15	-18.226	15.6561	0.77136	0.0:0.1364:0.8636:0.0	.	483;483	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	483;101	ENSP00000320291:S483Y;ENSP00000349545:S101Y	ENSP00000320291:S483Y	S	-	2	0	OSBPL1A	20059157	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	6.355000	0.73041	1.518000	0.48934	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	0	0	1	46	237	0	45	1	1	36	119	0	45	2		0	0	0	0	0	2	1	1	44	235	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
IMPACT	55364	broad.mit.edu	37	18	22029853	22029853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22029853G>A	ENST00000284202.4	+	10	971	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein			16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				GGACCAGATCGCTTTAAACAT	0.378000																								0							SO:0001583	missense			ENST00000284202.4	1	1	hg19	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574473	0.65878	.	.	ENSG00000154059	ENST00000284202	T	0.64260	-0.09	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.92507	3.315	0.80722	D	1	D	0.60160	0.987	P	0.49085	0.6	D	0.84239	0.0471	10	0.87932	D	0	.	19.1136	0.93328	0.0:0.0:1.0:0.0	.	277	Q9P2X3	IMPCT_HUMAN	H	277	ENSP00000284202:R277H	ENSP00000284202:R277H	R	+	2	0	IMPACT	20283851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.250000	0.95477	2.810000	0.96702	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	1	0	1	73	314	0	60	1	1	13	106	0	60	2		0	0	0	0	0	2	1	1	71	307	0	60	2								-3.476612	1	1	121408	9	42	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF521	25925	broad.mit.edu	37	18	22804628	22804628	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804628A>C	ENST00000361524.3	-	4	3402	c.3254T>G	c.(3253-3255)aTc>aGc	p.I1085S	ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521			149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)				CAGGCCATTGATATCAAGTTT	0.537000			T	PAX5	ALL										Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0							SO:0001583	missense			ENST00000361524.3	1	1	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626459	0.28978	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.02	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.19112	0.55	0.45806	D	0.998686	P	0.51449	0.945	P	0.45071	0.468	T	0.06734	-1.0810	10	0.48119	T	0.1	-35.3969	16.2652	0.82574	1.0:0.0:0.0:0.0	.	1085	Q96K83	ZN521_HUMAN	S	1085;1119;1085	ENSP00000354794:I1085S;ENSP00000382352:I1085S	ENSP00000354794:I1085S	I	-	2	0	ZNF521	21058626	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	2.241000	0.73720	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	0	0	0	12	408	0	82	0	1.282560e-01	0	20	0	82	2		0	0	0	0	0	2	1	9.990507e-01	12	401	0	81	2								-11.970940	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.340000	0.180000	0.550000	0.330000	0.356587	0.340000	0	2.500000e-01	4.500000e-01
ZNF521	25925	broad.mit.edu	37	18	22804820	22804820	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804820C>T	ENST00000361524.3	-	4	3210	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H	ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521			149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)				CACCACGCAGCGAAAGCCTGT	0.512000			T	PAX5	ALL										Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0							SO:0001583	missense			ENST00000361524.3	1	1	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463683	0.43736	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10192	2.9;2.9	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.27053	0.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.00449	-1.1732	10	0.56958	D	0.05	-45.0411	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1021	Q96K83	ZN521_HUMAN	H	1021;1055;1021	ENSP00000354794:R1021H;ENSP00000382352:R1021H	ENSP00000354794:R1021H	R	-	2	0	ZNF521	21058818	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1	47	213	0	59	0	9.102378e-01	0	21	0	59	2		0	0	0	0	0	2	1	1	47	210	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF521	25925	broad.mit.edu	37	18	22806342	22806342	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806342A>C	ENST00000361524.3	-	4	1688	c.1540T>G	c.(1540-1542)Ttt>Gtt	p.F514V	ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521			149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)				TGGGGACAAAAGAATGCATTA	0.463000			T	PAX5	ALL										Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0							SO:0001583	missense			ENST00000361524.3	1	1	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359577	0.24598	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.26660	1.72;1.72	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.34521	1.04	0.45108	D	0.998123	D	0.89917	1.0	D	0.91635	0.999	T	0.09228	-1.0684	10	0.30854	T	0.27	-22.3299	16.2847	0.82712	1.0:0.0:0.0:0.0	.	514	Q96K83	ZN521_HUMAN	V	514;548;514	ENSP00000354794:F514V;ENSP00000382352:F514V	ENSP00000354794:F514V	F	-	1	0	ZNF521	21060340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.242000	0.73789	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1	71	294	0	72	0	6.093961e-01	0	10	0	72	2		0	0	0	0	0	2	1	1	71	290	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF521	25925	broad.mit.edu	37	18	22806822	22806822	+	Missense_Mutation	SNP	C	C	T	rs140504840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806822C>T	ENST00000361524.3	-	4	1208	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521			149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)				GTACTGGACACGGAGGTATAG	0.577000			T	PAX5	ALL										Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0							SO:0001583	missense			ENST00000361524.3	1	1	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376385	0.24857	2.27E-4	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	N	0.01576	-0.805	0.40687	D	0.982362	P	0.35411	0.5	B	0.23150	0.044	T	0.55354	-0.8154	10	0.28530	T	0.3	-26.4043	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	354	Q96K83	ZN521_HUMAN	M	354;388;354	ENSP00000354794:V354M;ENSP00000382352:V354M	ENSP00000354794:V354M	V	-	1	0	ZNF521	21060820	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.743000	0.68655	2.941000	0.99782	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1	84	274	0	46	0	9.550601e-01	0	19	0	46	2		0	0	0	0	0	2	1	1	82	271	0	46	2								-20.000000	1	1	121412	6	38	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF521	25925	broad.mit.edu	37	18	22807139	22807139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22807139C>T	ENST00000361524.3	-	4	891	c.743G>A	c.(742-744)tGc>tAc	p.C248Y	ZNF521_ENST00000538137.2_Missense_Mutation_p.C248Y|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521			149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)				ACACTGACTGCACTTCTGAGT	0.547000			T	PAX5	ALL										Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0							SO:0001583	missense			ENST00000361524.3	1	1	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546262	0.27652	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.16196	2.36;2.36	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	L	0.34521	1.04	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.02560	-1.1141	10	0.72032	D	0.01	-23.4588	20.3248	0.98698	0.0:1.0:0.0:0.0	.	248	Q96K83	ZN521_HUMAN	Y	248;282;248	ENSP00000354794:C248Y;ENSP00000382352:C248Y	ENSP00000354794:C248Y	C	-	2	0	ZNF521	21061137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.818000	0.97014	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	0	0	0	14	407	0	58	0	8.885675e-02	1	13	0	58	2		0	0	0	0	0	2	1	9.997557e-01	14	405	0	58	2								-3.682373	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.390000	0.220000	0.620000	0.390000	0.410486	0.390000	0	3.000000e-01	5.100000e-01
ZNF521	25925	broad.mit.edu	37	18	22902012	22902012	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22902012G>A	ENST00000361524.3	-	3	328	c.180C>T	c.(178-180)agC>agT	p.S60S	ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521			149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)				CTGTGATATCGCTCAGCGATT	0.428000			T	PAX5	ALL										Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0							SO:0001819	synonymous_variant			ENST00000361524.3	1	1	hg19	CCDS32806.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1	88	433	0	101	0	7.120014e-01	0	14	0	101	2		0	0	0	0	0	2	1	1	87	426	0	100	2								-20.000000	1	1	121412	14	48	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SS18	6760	broad.mit.edu	37	18	23612494	23612494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23612494G>A	ENST00000415083.2	-	10	1154	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000542743.1_Missense_Mutation_p.P284S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S|SS18_ENST00000545952.1_Missense_Mutation_p.P284S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)				CCCTGTGAAGGACCTGAAAAT	0.453000			T	SSX1,  SSX2	synovial sarcoma										Dom	yes		18	18q11.2	6760	synovial sarcoma translocation, chromosome 18		M	0							SO:0001583	missense			ENST00000415083.2	1	1	hg19	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259899	0.59321	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.34072	1.41;1.4;1.44;1.38;1.44	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	L	0.47190	1.495	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	T	0.42816	-0.9429	10	0.28530	T	0.3	-3.721	18.4141	0.90562	0.0:0.0:1.0:0.0	.	284;336;367	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	370;367;336;344;284;285;284;82	ENSP00000269137:P336S;ENSP00000438066:P344S;ENSP00000444551:P284S;ENSP00000444647:P285S;ENSP00000443097:P284S	ENSP00000269137:P336S	P	-	1	0	SS18	21866492	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.420000	0.97426	2.419000	0.82065	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1	1	0	1	60	343	0	88	1	1	54	147	0	88	2		0	0	0	0	0	2	1	1	58	333	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TAF4B	6875	broad.mit.edu	37	18	23866093	23866093	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866093C>A	ENST00000269142.5	+	7	2218	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D	TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D|TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa			29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		GGAGCAAAAGCTGGAGTTGTG	0.478000																								0							SO:0001583	missense			ENST00000269142.5	1	1	hg19	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.584104	0.28268	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26223	1.75;1.82;1.75	5.7	4.78	0.61160	.	0.899725	0.09484	N	0.795943	T	0.17662	0.0424	N	0.19112	0.55	0.19300	N	0.999973	B;B	0.28128	0.201;0.079	B;B	0.26614	0.034;0.071	T	0.08046	-1.0741	10	0.12430	T	0.62	-0.3601	13.5144	0.61533	0.0:0.8297:0.1703:0.0	.	407;407	Q92750;A4PBF7	TAF4B_HUMAN;.	D	407	ENSP00000389365:A407D;ENSP00000269142:A407D;ENSP00000383314:A407D	ENSP00000269142:A407D	A	+	2	0	TAF4B	22120091	0.540000	0.26410	0.969000	0.41365	0.991000	0.79684	1.318000	0.33643	2.701000	0.92244	0.552000	0.68991	GCT		TCGA-IB-7651-01A-11D-2154-08	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	1	0	1	56	291	0	82	1	7.556458e-01	4	12	0	82	2		0	0	0	0	0	2	1	1	56	287	0	82	2								-4.750782	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF4B	6875	broad.mit.edu	37	18	23866330	23866330	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866330C>A	ENST00000269142.5	+	7	2455	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H|TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa			29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		TCTGTGAAACCTGTTGTTTCT	0.483000																								0							SO:0001583	missense			ENST00000269142.5	1	1	hg19	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156372	0.21454	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26067	1.76;1.79;1.76	5.28	4.4	0.53042	.	0.319646	0.29846	N	0.011058	T	0.30885	0.0779	L	0.32530	0.975	0.20821	N	0.999847	D;D	0.69078	0.997;0.983	P;P	0.55667	0.781;0.635	T	0.06552	-1.0820	10	0.66056	D	0.02	-3.3309	11.2792	0.49184	0.0:0.9146:0.0:0.0854	.	486;486	Q92750;A4PBF7	TAF4B_HUMAN;.	H	486	ENSP00000389365:P486H;ENSP00000269142:P486H;ENSP00000383314:P486H	ENSP00000269142:P486H	P	+	2	0	TAF4B	22120328	0.043000	0.20138	0.658000	0.29665	0.859000	0.49053	2.122000	0.41987	2.483000	0.83821	0.557000	0.71058	CCT		TCGA-IB-7651-01A-11D-2154-08	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	1	0	1	90	414	0	102	1	8.065718e-01	6	10	0	102	2		0	0	0	0	0	2	1	1	88	404	0	101	2								-3.198456	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD1	284252	broad.mit.edu	37	18	24039887	24039887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24039887G>A	ENST00000408011.3	-	4	871	c.312C>T	c.(310-312)gaC>gaT	p.D104D	KCTD1_ENST00000580059.1_Silent_p.D104D|KCTD1_ENST00000417602.1_Silent_p.D712D|KCTD1_ENST00000579973.1_Silent_p.D104D|KCTD1_ENST00000317932.7_Silent_p.D104D	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1			12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		ACAAAGTGTAGTCCTGGAAAA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000408011.3	0	1	hg19	CCDS11888.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	0	0	0	15	576	0	100	1	3.965117e-01	5	46	0	100	2		0	0	0	0	0	2	1	9.998396e-01	15	558	0	99	2								-12.597240	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.300000	0.170000	0.470000	0.290000	0.313405	0.300000	0	2.300000e-01	3.900000e-01
KCTD1	284252	broad.mit.edu	37	18	24056620	24056620	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24056620G>A	ENST00000408011.3	-	3	727	c.168C>T	c.(166-168)atC>atT	p.I56I	KCTD1_ENST00000580059.1_Silent_p.I56I|KCTD1_ENST00000417602.1_Silent_p.I664I|KCTD1_ENST00000579973.1_Silent_p.I56I|KCTD1_ENST00000317932.7_Silent_p.I56I	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1			12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		AAAGTCTTCCGATTCTGTGAT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000408011.3	1	1	hg19	CCDS11888.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	1	0	1	40	122	0	36	1	9.999445e-01	11	39	0	36	2		0	0	0	0	0	2	1	1	39	122	0	36	2								-20.000000	1	1	121412	1	30	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST9	83539	broad.mit.edu	37	18	24496351	24496351	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496351C>T	ENST00000284224.8	-	6	1481	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.D402N|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	p.D402Y(1)		28	all_lung(6;0.0145)|Ovarian(20;0.124)				GTTCTTTCATCGGAAGAGTGC	0.363000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000284224.8	1	1	hg19	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184112	0.78677	.	.	ENSG00000154080	ENST00000284224	T	0.73152	-0.72	6.07	6.07	0.98685	.	0.073354	0.56097	D	0.000021	T	0.71143	0.3305	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.73949	-0.3821	10	0.40728	T	0.16	-26.7158	20.6593	0.99626	0.0:1.0:0.0:0.0	.	402	Q7L1S5	CHST9_HUMAN	N	402	ENSP00000284224:D402N	ENSP00000284224:D402N	D	-	1	0	CHST9	22750349	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.755000	0.68750	2.885000	0.99019	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	1	0	1	127	609	1	128	0	5.912990e-01	0	11	1	128	2		0	0	0	0	0	2	1	1	125	598	1	128	19								-20.000000	1	1	120814	3	37	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST9	83539	broad.mit.edu	37	18	24496606	24496606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496606C>T	ENST00000284224.8	-	6	1226	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.A317T|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9			28	all_lung(6;0.0145)|Ovarian(20;0.124)				TCTTCACAGGCATTTGGTCGA	0.398000																								0							SO:0001583	missense			ENST00000284224.8	1	1	hg19	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805161	0.50315	.	.	ENSG00000154080	ENST00000284224	T	0.74209	-0.82	6.17	6.17	0.99709	.	0.245793	0.36134	N	0.002767	D	0.82360	0.5020	M	0.65498	2.005	0.80722	D	1	P	0.46912	0.886	P	0.51550	0.673	T	0.82374	-0.0489	10	0.72032	D	0.01	-4.0501	20.8794	0.99867	0.0:1.0:0.0:0.0	.	317	Q7L1S5	CHST9_HUMAN	T	317	ENSP00000284224:A317T	ENSP00000284224:A317T	A	-	1	0	CHST9	22750604	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.758000	0.62220	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	1	0	1	165	772	0	160	0	7.690241e-01	0	15	0	160	2		0	0	0	0	0	2	1	1	162	763	0	160	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST9	83539	broad.mit.edu	37	18	24524299	24524299	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24524299G>A	ENST00000284224.8	-	5	511	c.234C>T	c.(232-234)acC>acT	p.T78T	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.T78T|CHST9_ENST00000580774.1_Intron	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9			28	all_lung(6;0.0145)|Ovarian(20;0.124)				ATACCTGGTTGGTGATATGTT	0.313000																								0							SO:0001819	synonymous_variant			ENST00000284224.8	1	1	hg19	CCDS42422.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	1	0	1	53	217	0	47	0	5.539359e-01	0	9	0	47	2		0	0	0	0	0	2	1	1	52	213	0	47	2								-2.912668	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH2	1000	broad.mit.edu	37	18	25565534	25565534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25565534G>A	ENST00000269141.3	-	12	2356	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	CDH2_ENST00000399380.3_Missense_Mutation_p.P614S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)			82					ATAGTCACTGGAGATAAAGGA	0.373000																								0							SO:0001583	missense			ENST00000269141.3	1	1	hg19	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597282	0.46318	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.51325	0.71;0.71	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47446	-0.9117	10	0.06494	T	0.89	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	614;645	A8MWK3;P19022	.;CADH2_HUMAN	S	645;614	ENSP00000269141:P645S;ENSP00000382312:P614S	ENSP00000269141:P645S	P	-	1	0	CDH2	23819532	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.414000	0.97362	2.830000	0.97506	0.585000	0.79938	CCA		TCGA-IB-7651-01A-11D-2154-08	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	1	0	1	35	218	0	64	1	7.605620e-01	7	12	0	64	2		0	0	0	0	0	2	1	1	34	217	0	64	2								-2.923646	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999847	0.990000	1	9.900000e-01	1
CDH2	1000	broad.mit.edu	37	18	25570308	25570308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25570308C>T	ENST00000269141.3	-	10	1774	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)			82					GTTTCAAAGTCGATTGGCTGG	0.393000																								0							SO:0001583	missense			ENST00000269141.3	1	1	hg19	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178862	0.78564	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.63417	-0.04;-0.04	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81239	2.535	0.80722	D	1	D;D	0.65815	0.995;0.994	P;P	0.53401	0.725;0.642	T	0.77568	-0.2539	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	420;451	A8MWK3;P19022	.;CADH2_HUMAN	N	451;420	ENSP00000269141:D451N;ENSP00000382312:D420N	ENSP00000269141:D451N	D	-	1	0	CDH2	23824306	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	0	0	1	53	210	0	66	1	9.155365e-01	6	13	0	66	2		0	0	0	0	0	2	1	1	51	207	0	66	2								-20.000000	1	1	121406	6	36	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH2	1000	broad.mit.edu	37	18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25572675G>A	ENST00000269141.3	-	9	1711	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)			82					ATGGCGAACCGTCCAGTAGGA	0.527000																								0							SO:0001583	missense			ENST00000269141.3	1	1	hg19	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646380	0.47258	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50813	0.73;0.73	5.39	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.162822	0.52532	D	0.000075	T	0.60702	0.2289	L	0.43598	1.365	0.40622	D	0.981774	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.62978	-0.6739	10	0.48119	T	0.1	.	15.3486	0.74363	0.0:0.0:0.8551:0.1449	.	399;430	A8MWK3;P19022	.;CADH2_HUMAN	W	430;399	ENSP00000269141:R430W;ENSP00000382312:R399W	ENSP00000269141:R430W	R	-	1	2	CDH2	23826673	0.880000	0.30214	0.071000	0.20095	0.146000	0.21551	3.612000	0.54142	1.334000	0.45468	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	1	0	1	51	251	0	74	1	9.586017e-01	6	22	0	74	2		0	0	0	0	0	2	1	9.999994e-01	50	247	1	73	15								-20.000000	1	1	121412	7	39	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THOC1	9984	broad.mit.edu	37	18	265360	265360	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265360T>G	ENST00000261600.6	-	3	139	c.132A>C	c.(130-132)gaA>gaC	p.E44D	THOC1_ENST00000582313.1_5'UTR|RP11-705O1.8_ENST00000581677.1_lincRNA	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1			20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)			TTTTTTCATTTTCACTATTAA	0.299000																								0							SO:0001583	missense			ENST00000261600.6	1	1	hg19	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086039	0.36855	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.27053	0.805	0.50039	D	0.999844	B;B	0.32467	0.285;0.372	B;B	0.30943	0.122;0.108	T	0.36504	-0.9745	9	0.14252	T	0.57	-17.3277	16.2861	0.82722	0.0:0.0:0.0:1.0	.	44;44	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	44	.	ENSP00000261600:E44D	E	-	3	2	THOC1	255360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.961000	0.56759	2.322000	0.78497	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	1	0	1	16	64	0	12	1	9.818933e-01	10	20	0	12	2		0	0	0	0	0	2	1	9.999612e-01	16	63	0	12	2								-12.594420	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999873	0.990000	1	9.900000e-01	1
THOC1	9984	broad.mit.edu	37	18	265516	265516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265516C>A	ENST00000261600.6	-	2	76	c.69G>T	c.(67-69)gaG>gaT	p.E23D	THOC1_ENST00000582313.1_5'UTR|RP11-705O1.8_ENST00000581677.1_lincRNA	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1			20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)			TGTTCAAGGCCTCTCTGGTAG	0.323000																								0							SO:0001583	missense			ENST00000261600.6	0	1	hg19	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864297	0.32977	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	0.254	0.15557	.	0.208574	0.49916	D	0.000131	T	0.19446	0.0467	N	0.08118	0	0.35667	D	0.813024	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04029	-1.0983	9	0.33940	T	0.23	-15.4522	1.6694	0.02808	0.1147:0.2986:0.199:0.3877	.	23;23	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	23	.	ENSP00000261600:E23D	E	-	3	2	THOC1	255516	0.439000	0.25610	1.000000	0.80357	0.999000	0.98932	-0.300000	0.08243	0.372000	0.24591	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	0	0	0	4	39	0	15	1	5.671833e-01	6	12	0	15	2		0	0	0	0	0	2	1	8.879702e-01	4	38	0	15	2								-9.492287	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.410000	1.000000	1.000000	0.899502	0.990000	1	7.100000e-01	1
SMCHD1	23347	broad.mit.edu	37	18	2707808	2707808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2707808C>T	ENST00000320876.6	+	17	2488	c.2150C>T	c.(2149-2151)gCg>gTg	p.A717V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1			45					CTCATAGGTGCGTTAAGAATT	0.363000																								0							SO:0001583	missense			ENST00000320876.6	0	1	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018495	0.35606	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.26	5.26	0.73747	.	0.071383	0.56097	D	0.000036	T	0.24160	0.0585	N	0.24115	0.695	0.34705	D	0.727147	D	0.63046	0.992	P	0.45712	0.491	T	0.13818	-1.0495	10	0.35671	T	0.21	-15.1304	19.2255	0.93816	0.0:1.0:0.0:0.0	.	717	A6NHR9	SMHD1_HUMAN	V	717	ENSP00000326603:A717V;ENSP00000261598:A717V	ENSP00000261598:A717V	A	+	2	0	SMCHD1	2697808	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.910000	0.69931	2.589000	0.87451	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2	1	0	0	13	54	0	9	1	9.970673e-01	9	37	0	9	2		0	0	0	0	0	2	1	9.996863e-01	13	53	0	9	2								-11.211950	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999512	0.990000	1	9.900000e-01	1
DSC3	1825	broad.mit.edu	37	18	28576801	28576801	+	Missense_Mutation	SNP	T	T	G	rs115171596	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28576801T>G	ENST00000360428.4	-	15	2529	c.2449A>C	c.(2449-2451)Act>Cct	p.T817P	DSC3_ENST00000434452.1_Missense_Mutation_p.T817P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3			56			OV - Ovarian serous cystadenocarcinoma(10;0.125)		TCCGAGTAAGTGTATCTGCAG	0.507000																								0							SO:0001583	missense			ENST00000360428.4	1	1	hg19	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	T	7.387	0.630069	0.14257	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.77098	-1.07;0.36	4.57	2.14	0.27477	Cadherin, cytoplasmic domain (1);	0.499351	0.14992	N	0.286653	D	0.84202	0.5420	M	0.76838	2.35	0.24595	N	0.993807	D;D	0.67145	0.983;0.996	D;D	0.67725	0.917;0.953	T	0.72513	-0.4270	10	0.72032	D	0.01	.	5.1958	0.15236	0.1406:0.1556:0.0:0.7039	.	817;817	Q14574;Q14574-2	DSC3_HUMAN;.	P	817	ENSP00000353608:T817P;ENSP00000392068:T817P	ENSP00000353608:T817P	T	-	1	0	DSC3	26830799	0.994000	0.37717	0.554000	0.28268	0.608000	0.37181	1.385000	0.34408	0.346000	0.23899	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1	55	280	0	55	1	1.315957e-01	3	1	0	55	2		0	0	0	0	0	2	1	1	54	278	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSC3	1825	broad.mit.edu	37	18	28586953	28586953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28586953A>G	ENST00000360428.4	-	12	1888	c.1808T>C	c.(1807-1809)gTc>gCc	p.V603A	DSC3_ENST00000434452.1_Missense_Mutation_p.V603A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3			56			OV - Ovarian serous cystadenocarcinoma(10;0.125)		AGCTCCATGGACAGGTTCATC	0.358000																								0							SO:0001583	missense			ENST00000360428.4	1	1	hg19	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	0.632	-0.816678	0.02776	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.60548	0.18;0.18	5.11	-0.191	0.13252	Cadherin (2);Cadherin-like (1);	1.001040	0.08063	N	0.998654	T	0.37839	0.1018	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.21655	-1.0239	10	0.11794	T	0.64	.	4.6816	0.12738	0.4613:0.0:0.3889:0.1498	.	603;603	Q14574;Q14574-2	DSC3_HUMAN;.	A	603	ENSP00000353608:V603A;ENSP00000392068:V603A	ENSP00000353608:V603A	V	-	2	0	DSC3	26840951	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	0.391000	0.20784	0.068000	0.16574	-0.490000	0.04691	GTC		TCGA-IB-7651-01A-11D-2154-08	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1	58	249	0	65	1	2.450336e-01	2	3	0	65	2		0	0	0	0	0	2	1	1	58	243	0	65	2								-20.000000	1	1	121410	3	34	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSC3	1825	broad.mit.edu	37	18	28588089	28588089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28588089G>A	ENST00000360428.4	-	11	1636	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	DSC3_ENST00000434452.1_Missense_Mutation_p.T519I	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3			56			OV - Ovarian serous cystadenocarcinoma(10;0.125)		TTCATCAATGGTGATCCAACC	0.313000																								0							SO:0001583	missense			ENST00000360428.4	1	1	hg19	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455834	0.26161	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54675	0.56;0.56	5.08	-1.53	0.08611	Cadherin (4);Cadherin-like (1);	0.782790	0.10416	N	0.677346	T	0.57592	0.2064	M	0.79123	2.44	0.24325	N	0.995025	B;B	0.29716	0.255;0.203	B;B	0.39935	0.314;0.135	T	0.58504	-0.7625	10	0.46703	T	0.11	.	10.5402	0.45029	0.0:0.4184:0.1923:0.3893	.	519;519	Q14574;Q14574-2	DSC3_HUMAN;.	I	519	ENSP00000353608:T519I;ENSP00000392068:T519I	ENSP00000353608:T519I	T	-	2	0	DSC3	26842087	0.041000	0.20044	0.411000	0.26484	0.703000	0.40648	-0.030000	0.12308	-0.418000	0.07450	-0.175000	0.13238	ACC		TCGA-IB-7651-01A-11D-2154-08	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1	22	76	0	13	0	0	0	1	0	13	2		0	0	0	0	0	2	1	9.999995e-01	22	75	0	13	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
DSC3	1825	broad.mit.edu	37	18	28602455	28602455	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28602455C>T	ENST00000360428.4	-	7	869	c.789G>A	c.(787-789)ggG>ggA	p.G263G	DSC3_ENST00000434452.1_Silent_p.G263G	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3			56			OV - Ovarian serous cystadenocarcinoma(10;0.125)		CACAAACCACCCCCACTGTAG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000360428.4	1	1	hg19	CCDS32810.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1	41	241	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1	39	235	0	55	2								-3.323306	1	1	121410	2	36	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
DSC3	1825	broad.mit.edu	37	18	28605830	28605830	+	Missense_Mutation	SNP	G	G	A	rs137869359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28605830G>A	ENST00000360428.4	-	5	606	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	DSC3_ENST00000434452.1_Missense_Mutation_p.R176C	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3			56			OV - Ovarian serous cystadenocarcinoma(10;0.125)		TCAACTCCACGTCCACTTATT	0.313000																								0							SO:0001583	missense			ENST00000360428.4	1	1	hg19	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290692	0.80914	6.81E-4	0.0	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.61274	0.12;0.12	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.000000	0.33382	N	0.004974	T	0.63177	0.2489	L	0.27053	0.805	0.52099	D	0.999944	D;D	0.71674	0.997;0.998	P;P	0.61658	0.892;0.827	T	0.67473	-0.5662	10	0.87932	D	0	.	17.4558	0.87607	0.0:0.0:1.0:0.0	.	176;176	Q14574;Q14574-2	DSC3_HUMAN;.	C	176	ENSP00000353608:R176C;ENSP00000392068:R176C	ENSP00000353608:R176C	R	-	1	0	DSC3	26859828	1.000000	0.71417	0.976000	0.42696	0.819000	0.46315	5.544000	0.67231	2.706000	0.92434	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	1	27	131	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	1	27	127	0	42	2								-2.786471	1	1	121406	12	39	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
DSC2	1824	broad.mit.edu	37	18	28662229	28662229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28662229T>C	ENST00000280904.6	-	9	1681	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2			21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)		AACTCCTTCATTGGTTTTGGC	0.294000																								0							SO:0001583	missense			ENST00000280904.6	1	1	hg19	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344545	0.82022	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.38077	1.16;1.16	5.69	5.69	0.88448	Cadherin (5);Cadherin-like (1);	0.000000	0.34555	N	0.003875	T	0.65354	0.2683	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	T	0.72214	-0.4358	10	0.87932	D	0	.	14.9309	0.70914	0.0:0.0:0.0:1.0	.	413;413	Q02487;Q02487-2	DSC2_HUMAN;.	S	413;413;179;426	ENSP00000251081:N413S;ENSP00000280904:N413S	ENSP00000251081:N413S	N	-	2	0	DSC2	26916227	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.373000	0.79623	2.170000	0.68504	0.528000	0.53228	AAT		TCGA-IB-7651-01A-11D-2154-08	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	0	0	0	8	288	0	87	0	6.124954e-01	1	71	0	87	2		0	0	0	0	0	2	1	9.890327e-01	8	284	0	87	2								-9.175431	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.320000	0.150000	0.580000	0.310000	0.347833	0.320000	0	2.300000e-01	4.500000e-01
DSC2	1824	broad.mit.edu	37	18	28669454	28669454	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28669454C>A	ENST00000280904.6	-	5	1021	c.578G>T	c.(577-579)gGa>gTa	p.G193V	DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2			21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)		ATACAAGTTTCCAGTGTCTCT	0.403000																								0							SO:0001583	missense			ENST00000280904.6	1	1	hg19	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688337	0.88639	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.73152	-0.72;-0.72	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.31697	N	0.007218	D	0.90310	0.6969	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92440	0.5961	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	193;193	Q02487;Q02487-2	DSC2_HUMAN;.	V	193;193;206	ENSP00000251081:G193V;ENSP00000280904:G193V	ENSP00000251081:G193V	G	-	2	0	DSC2	26923452	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.504000	0.53347	2.937000	0.99478	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	1	0	1	66	264	0	65	1	9.999912e-01	18	53	0	65	2		0	0	0	0	0	2	1	1	65	259	0	64	2								-3.542376	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSC2	1824	broad.mit.edu	37	18	28672188	28672188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672188C>T	ENST00000280904.6	-	3	673	c.230G>A	c.(229-231)gGt>gAt	p.G77D	DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2			21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)		ATAGACTGAACCATCCTCCAA	0.343000																								0							SO:0001583	missense			ENST00000280904.6	1	1	hg19	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183727	0.78677	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	D;D	0.91464	-2.85;-2.85	5.1	5.1	0.69264	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.32935	N	0.005474	D	0.95449	0.8522	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95885	0.8902	10	0.87932	D	0	.	17.6462	0.88149	0.0:1.0:0.0:0.0	.	77;77	Q02487;Q02487-2	DSC2_HUMAN;.	D	77	ENSP00000251081:G77D;ENSP00000280904:G77D	ENSP00000251081:G77D	G	-	2	0	DSC2	26926186	0.999000	0.42202	0.998000	0.56505	0.895000	0.52256	4.935000	0.63498	2.550000	0.86006	0.455000	0.32223	GGT		TCGA-IB-7651-01A-11D-2154-08	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	1	0	1	52	217	0	68	1	9.996705e-01	15	38	0	68	2		0	0	0	0	0	2	1	1	52	210	0	68	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSC2	1824	broad.mit.edu	37	18	28672216	28672216	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672216C>A	ENST00000280904.6	-	3	645	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2			21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)		AAGTCAGGATCACTTGAATGA	0.333000																								0							SO:0001583	missense			ENST00000280904.6	1	1	hg19	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585829	0.66105	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.57595	0.39;0.39	5.21	5.21	0.72293	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.33346	N	0.005008	T	0.71854	0.3389	M	0.81112	2.525	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75238	-0.3388	10	0.87932	D	0	.	11.4042	0.49887	0.0:0.9153:0.0:0.0847	.	68;68	Q02487;Q02487-2	DSC2_HUMAN;.	Y	68	ENSP00000251081:D68Y;ENSP00000280904:D68Y	ENSP00000251081:D68Y	D	-	1	0	DSC2	26926214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.418000	0.52721	2.607000	0.88179	0.455000	0.32223	GAT		TCGA-IB-7651-01A-11D-2154-08	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	1	0	1	47	207	0	54	1	9.986508e-01	12	35	0	54	2		0	0	0	0	0	2	1	1	47	201	0	54	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSC1	1823	broad.mit.edu	37	18	28710482	28710482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28710482T>G	ENST00000257198.5	-	16	2941	c.2680A>C	c.(2680-2682)Aaa>Caa	p.K894Q	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1			53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)		CACATTTATTTCTTGATGCAT	0.393000																								0							SO:0001583	missense			ENST00000257198.5	1	1	hg19	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453221	0.43531	.	.	ENSG00000134765	ENST00000257198	T	0.58940	0.3	6.17	0.998	0.19857	.	0.646706	0.14215	N	0.333813	T	0.45054	0.1323	L	0.34521	1.04	0.23156	N	0.998203	B	0.19200	0.034	B	0.24394	0.053	T	0.41998	-0.9477	10	0.56958	D	0.05	.	9.4925	0.38969	0.1086:0.0:0.3923:0.4991	.	894	Q08554	DSC1_HUMAN	Q	894	ENSP00000257198:K894Q	ENSP00000257198:K894Q	K	-	1	0	DSC1	26964480	0.921000	0.31238	0.066000	0.19879	0.158000	0.22134	1.302000	0.33459	0.213000	0.20722	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	1	0	1	130	560	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	127	541	0	130	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSC1	1823	broad.mit.edu	37	18	28725591	28725591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28725591G>A	ENST00000257198.5	-	7	1183	c.922C>T	c.(922-924)Cct>Tct	p.P308S	DSC1_ENST00000257197.3_Missense_Mutation_p.P308S|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1			53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)		TCCAGAAAAGGTGTAGTTGTG	0.373000																								0							SO:0001583	missense			ENST00000257198.5	1	1	hg19	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164066	0.01673	4.54E-4	0.0	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.54675	0.56;0.56	5.32	-0.572	0.11745	Cadherin (4);Cadherin-like (1);	0.446761	0.18957	N	0.126507	T	0.22475	0.0542	N	0.05554	-0.025	0.09310	N	1	B;B	0.18461	0.028;0.012	B;B	0.15052	0.012;0.012	T	0.14254	-1.0479	10	0.13853	T	0.58	.	4.2214	0.10559	0.3703:0.0:0.3952:0.2345	.	308;308	Q08554;Q9HB00	DSC1_HUMAN;.	S	308	ENSP00000257197:P308S;ENSP00000257198:P308S	ENSP00000257197:P308S	P	-	1	0	DSC1	26979589	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-0.228000	0.09114	0.182000	0.20032	0.484000	0.47621	CCT		TCGA-IB-7651-01A-11D-2154-08	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	1	0	1	86	398	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	84	393	0	77	2								-20.000000	1	1	121412	2	38	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EMILIN2	84034	broad.mit.edu	37	18	2890564	2890564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2890564G>A	ENST00000254528.3	+	4	598	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2			48					AACAGATAATGAACCCAGCCA	0.433000																								0							SO:0001583	missense			ENST00000254528.3	1	1	hg19	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534511	0.27475	.	.	ENSG00000132205	ENST00000254528	T	0.35236	1.32	5.44	5.44	0.79542	.	0.759946	0.12001	N	0.508783	T	0.33818	0.0876	L	0.54323	1.7	0.32662	N	0.51795	B	0.21147	0.052	B	0.21917	0.037	T	0.36962	-0.9726	10	0.06494	T	0.89	-11.8618	14.7602	0.69600	0.0:0.0:1.0:0.0	.	147	Q9BXX0	EMIL2_HUMAN	K	147	ENSP00000254528:E147K	ENSP00000254528:E147K	E	+	1	0	EMILIN2	2880564	1.000000	0.71417	0.994000	0.49952	0.234000	0.25298	4.484000	0.60271	2.555000	0.86185	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	1	0	1	38	247	0	71	0	9.987989e-01	0	69	0	71	2		0	0	0	0	0	2	1	1	36	239	0	70	2								-20.000000	1	1	0	0		1	0	1	1	1.933000	0	0.170000	2.060000	1.078147e-01	0.990000	0.900000	1.000000	1.000000	0.993712	0.990000	1	9.900000e-01	1
DSG1	1828	broad.mit.edu	37	18	28934818	28934818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28934818C>T	ENST00000257192.4	+	15	2871	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1			76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)		GCCTGACTTGCGAGATGGGTC	0.478000																								0							SO:0001587	stop_gained			ENST00000257192.4	0	1	hg19	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	38	6.653377	0.97739	.	.	ENSG00000134760	ENST00000257192	.	.	.	6.02	4.87	0.63330	.	0.236364	0.38217	N	0.001767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5659	0.33538	0.5489:0.3835:0.0675:0.0	.	.	.	.	X	887	.	ENSP00000257192:R887X	R	+	1	2	DSG1	27188816	0.998000	0.40836	0.999000	0.59377	0.854000	0.48673	2.019000	0.41001	1.113000	0.41760	-0.262000	0.10625	CGA		TCGA-IB-7651-01A-11D-2154-08	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	1	0	0	124	553	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1	121	545	0	131	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSG1	1828	broad.mit.edu	37	18	28935055	28935055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28935055G>T	ENST00000257192.4	+	15	3108	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G325C|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1			76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)		TGGAATTAGTGGCACCACTGG	0.567000																								0							SO:0001583	missense			ENST00000257192.4	1	1	hg19	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	1.269	-0.613598	0.03690	.	.	ENSG00000134760	ENST00000257192	T	0.60299	0.2	6.11	4.32	0.51571	.	0.000000	0.53938	D	0.000054	T	0.51210	0.1661	N	0.08118	0	0.25503	N	0.987539	D	0.76494	0.999	D	0.62955	0.909	T	0.43343	-0.9397	10	0.62326	D	0.03	.	8.8549	0.35223	0.2249:0.0:0.7751:0.0	.	966	Q02413	DSG1_HUMAN	C	966	ENSP00000257192:G966C	ENSP00000257192:G966C	G	+	1	0	DSG1	27189053	0.984000	0.35163	0.114000	0.21550	0.003000	0.03518	1.520000	0.35899	1.600000	0.50102	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	1	0	1	157	701	0	169		0	0	0	0	169	2		0	0	0	0	0	2	1	1	155	691	0	169	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSG4	147409	broad.mit.edu	37	18	28983528	28983528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28983528C>T	ENST00000308128.4	+	11	1702	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P523S	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4			70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)		TTATGGGTCTCCGTTTACTTT	0.383000																								0							SO:0001583	missense			ENST00000308128.4	1	1	hg19	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477402	0.63849	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.62788	0.0;0.0	6.01	6.01	0.97437	Cadherin-like (1);	0.000000	0.34460	N	0.003957	D	0.82774	0.5110	M	0.85859	2.78	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.948	D	0.84109	0.0400	10	0.87932	D	0	.	20.1245	0.97974	0.0:1.0:0.0:0.0	.	523;523	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	523	ENSP00000311859:P523S;ENSP00000352785:P523S	ENSP00000311859:P523S	P	+	1	0	DSG4	27237526	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.579000	0.67457	2.850000	0.98022	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	1	0	1	41	236	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	41	227	0	57	2								-19.801330	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
DSG4	147409	broad.mit.edu	37	18	28992915	28992915	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28992915A>G	ENST00000308128.4	+	16	2615	c.2480A>G	c.(2479-2481)gAc>gGc	p.D827G	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D846G	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4			70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)		ATTGTGGATGACTTAGATGAA	0.453000																								0							SO:0001583	missense			ENST00000308128.4	1	1	hg19	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080926	0.76528	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.79141	-1.24;-1.24	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	0.000000	0.36482	N	0.002569	D	0.89842	0.6832	M	0.89214	3.015	0.45718	D	0.998622	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.91774	0.5430	10	0.87932	D	0	.	15.8549	0.78968	1.0:0.0:0.0:0.0	.	846;827	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	G	827;846	ENSP00000311859:D827G;ENSP00000352785:D846G	ENSP00000311859:D827G	D	+	2	0	DSG4	27246913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.420000	0.66441	2.141000	0.66446	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	1	0	1	98	473	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	98	462	0	90	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSG3	1830	broad.mit.edu	37	18	29055872	29055872	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29055872C>A	ENST00000257189.4	+	16	2732	c.2649C>A	c.(2647-2649)tcC>tcA	p.S883S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3			62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)		GGATTGAATCCTGTGGCCATC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000257189.4	1	1	hg19	CCDS11898.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	1	0	1	97	425	0	102	1	1	56	54	0	102	2		0	0	0	0	0	2	1	1	97	421	0	101	2								-3.074583	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSG2	1829	broad.mit.edu	37	18	29115361	29115361	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29115361T>C	ENST00000261590.8	+	10	1618	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2			49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)		GTAAAGATTGTGGCCATATCA	0.299000																								0							SO:0001583	missense			ENST00000261590.8	1	1	hg19	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706790	0.30232	.	.	ENSG00000046604	ENST00000261590	T	0.61274	0.12	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	1.741940	0.02868	N	0.131227	T	0.64405	0.2595	L	0.53249	1.67	0.80722	D	1	B	0.26975	0.165	B	0.31442	0.13	T	0.36696	-0.9737	10	0.62326	D	0.03	.	15.8834	0.79222	0.0:0.0:0.0:1.0	.	470	Q14126	DSG2_HUMAN	A	470	ENSP00000261590:V470A	ENSP00000261590:V470A	V	+	2	0	DSG2	27369359	1.000000	0.71417	0.037000	0.18230	0.151000	0.21798	6.445000	0.73456	2.158000	0.67659	0.379000	0.24179	GTG		TCGA-IB-7651-01A-11D-2154-08	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	1	0	1	26	99	0	31	1	1	153	178	0	31	2		0	0	0	0	0	2	1	1	22	98	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
DSG2	1829	broad.mit.edu	37	18	29118725	29118725	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29118725C>T	ENST00000261590.8	+	12	1872	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2			49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)		TACCAGTGTGCTGCTGCAACA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000261590.8	1	1	hg19	CCDS42423.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	1	0	1	47	245	0	58	1	1	245	332	0	58	2		0	0	0	0	0	2	1	1	47	242	0	58	2								-19.999920	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DSG2	1829	broad.mit.edu	37	18	29126558	29126558	+	Missense_Mutation	SNP	C	C	T	rs149617776	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29126558C>T	ENST00000261590.8	+	15	3418	c.3209C>T	c.(3208-3210)aCg>aTg	p.T1070M	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2			49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)		AATTCTATGACGGCTAGGAAC	0.463000																								0							SO:0001583	missense			ENST00000261590.8	1	0	hg19	CCDS42423.1	13	0.005952380952380952	0	0.0	6	0.016574585635359115	7	0.012237762237762238	0	0.0	A	10.04	1.241852	0.22796	2.65E-4	6.04E-4	ENSG00000046604	ENST00000261590	T	0.76968	-1.06	4.67	-9.34	0.00636	.	1.337880	0.04842	N	0.440611	T	0.45054	0.1323	L	0.43923	1.385	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.36648	-0.9739	10	0.18276	T	0.48	.	4.4684	0.11700	0.088:0.437:0.1481:0.3269	.	1070	Q14126	DSG2_HUMAN	M	1070	ENSP00000261590:T1070M	ENSP00000261590:T1070M	T	+	2	0	DSG2	27380556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.531000	0.06171	-2.727000	0.00386	-1.175000	0.01729	ACG		TCGA-IB-7651-01A-11D-2154-08	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	1	0	1	77	461	0	126	1	1	304	428	0	126	2		0	0	0	0	0	2	1	1	75	453	0	126	2								-6.367873	1	1	120834	142	55	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPIN2	9663	broad.mit.edu	37	18	2920375	2920375	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2920375A>G	ENST00000261596.4	-	20	2845	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2			29					GAAAAGCGGAATTCTGCTCCT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000261596.4	1	1	hg19	CCDS11829.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	1	0	0	15	238	0	50	1	9.948187e-01	13	127	0	50	2		0	0	0	0	0	2	1	9.998711e-01	15	234	0	50	2								-18.573610	1	1	0	0		1	0	1	1	1.933000	0	0.170000	2.060000	1.078147e-01	0.640000	0.380000	0.970000	1.000000	0.661314	0.640000	0	5.000000e-01	8.100000e-01
LPIN2	9663	broad.mit.edu	37	18	2937906	2937906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2937906C>T	ENST00000261596.4	-	7	1190	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2			29					ACAGTGTCTTCCATGGAAGCA	0.483000																								0							SO:0001583	missense			ENST00000261596.4	1	1	hg19	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008567	0.07727	.	.	ENSG00000101577	ENST00000261596	T	0.80214	-1.35	5.96	5.96	0.96718	.	1.088990	0.06752	N	0.780147	T	0.66954	0.2842	N	0.16656	0.425	0.29070	N	0.883339	B	0.02656	0.0	B	0.01281	0.0	T	0.54774	-0.8243	10	0.09590	T	0.72	.	9.2797	0.37720	0.0:0.8811:0.0:0.1189	.	318	Q92539	LPIN2_HUMAN	K	318	ENSP00000261596:E318K	ENSP00000261596:E318K	E	-	1	0	LPIN2	2927906	0.662000	0.27439	0.713000	0.30519	0.973000	0.67179	2.963000	0.49184	2.832000	0.97577	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	1	0	1	127	416	0	104	1	9.999992e-01	19	49	0	104	2		0	0	0	0	0	2	1	1	126	411	0	104	2								-4.692920	1	1	0	0		1	0	1	1	1.933000	0	0.170000	2.060000	1.078147e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL14	57565	broad.mit.edu	37	18	30321972	30321972	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30321972G>T	ENST00000359358.4	-	3	1426	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14			31					CCAGGAGGCAGCCCTCCAACC	0.418000																								0							SO:0001583	missense			ENST00000359358.4	1	1	hg19	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834539	0.32421	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76839	-0.29;-1.05	6.11	1.37	0.22104	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.68943	0.3056	N	0.03983	-0.305	0.37945	D	0.932459	D	0.65815	0.995	D	0.72982	0.979	T	0.68861	-0.5297	10	0.33940	T	0.23	.	9.2446	0.37518	0.7086:0.0:0.2914:0.0	.	330	Q9P2G3	KLH14_HUMAN	M	330	ENSP00000352314:L330M;ENSP00000350808:L330M	ENSP00000350808:L330M	L	-	1	2	KLHL14	28575970	0.004000	0.15560	0.760000	0.31359	0.997000	0.91878	0.097000	0.15168	0.569000	0.29329	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1	1	0	1	29	168	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	29	164	0	56	2								-15.580640	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999838	0.990000	1	9.900000e-01	1
ASXL3	80816	broad.mit.edu	37	18	31324318	31324318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31324318C>T	ENST00000269197.5	+	12	4506	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3			43					ACCTGCAGGGCAGACCAGTGA	0.552000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000269197.5	1	1	hg19	CCDS45847.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2	1	0	1	36	157	0	30	0	0	0	1	0	30	2		0	0	0	0	0	2	1	1	35	153	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ASXL3	80816	broad.mit.edu	37	18	31325027	31325027	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31325027C>T	ENST00000269197.5	+	12	5215	c.5215C>T	c.(5215-5217)Cgt>Tgt	p.R1739C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3			43					CTCAGGCTGTCGTCTGTCCTC	0.542000																								0							SO:0001583	missense			ENST00000269197.5	1	1	hg19	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413428	0.42817	0.0	1.19E-4	ENSG00000141431	ENST00000269197	T	0.17054	2.3	5.86	5.86	0.93980	.	.	.	.	.	T	0.34106	0.0886	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.03068	-1.1076	9	0.66056	D	0.02	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1739	Q9C0F0	ASXL3_HUMAN	C	1739	ENSP00000269197:R1739C	ENSP00000269197:R1739C	R	+	1	0	ASXL3	29579025	1.000000	0.71417	0.668000	0.29813	0.168000	0.22595	5.359000	0.66074	2.775000	0.95449	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2	1	0	1	45	234	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	1	45	229	0	62	2								-3.343612	1	1	120956	1	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ASXL3	80816	broad.mit.edu	37	18	31326314	31326314	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31326314G>A	ENST00000269197.5	+	12	6502	c.6502G>A	c.(6502-6504)Gca>Aca	p.A2168T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3			43					CAAAAGGGCAGCATCTGCAAT	0.473000																								0							SO:0001583	missense			ENST00000269197.5	1	1	hg19	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699045	0.48307	.	.	ENSG00000141431	ENST00000269197	T	0.18960	2.18	6.17	5.31	0.75309	.	.	.	.	.	T	0.17450	0.0419	N	0.24115	0.695	0.41608	D	0.988892	B	0.20052	0.041	B	0.20184	0.028	T	0.02654	-1.1128	9	0.54805	T	0.06	.	15.6259	0.76855	0.0653:0.0:0.9347:0.0	.	2168	Q9C0F0	ASXL3_HUMAN	T	2168	ENSP00000269197:A2168T	ENSP00000269197:A2168T	A	+	1	0	ASXL3	29580312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.456000	0.66665	1.634000	0.50500	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2	1	0	1	161	636	0	172		0	0	0	0	172	2		0	0	0	0	0	2	1	1	157	623	0	168	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOL4	8715	broad.mit.edu	37	18	31463241	31463241	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31463241C>G	ENST00000261592.5	-	10	1987	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	NOL4_ENST00000535384.1_Missense_Mutation_p.G279R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R|NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000535475.1_Missense_Mutation_p.G345R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4			51					TTTAGCAGACCCCCTCCTAGC	0.408000																								0							SO:0001583	missense			ENST00000261592.5	1	1	hg19	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338414	0.81911	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.7	5.7	0.88788	.	0.077818	0.53938	D	0.000046	T	0.73745	0.3626	L	0.43152	1.355	0.53688	D	0.999978	P;P;P;B;D;D	0.89917	0.73;0.773;0.773;0.435;1.0;0.988	B;B;B;B;D;P	0.87578	0.316;0.316;0.232;0.157;0.998;0.824	T	0.67711	-0.5600	9	0.25751	T	0.34	-13.3835	19.8045	0.96525	0.0:1.0:0.0:0.0	.	279;490;564;279;462;345	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	R	564;348;279;345;490	.	ENSP00000261592:G564R	G	-	1	0	NOL4	29717239	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.639000	0.67868	2.676000	0.91093	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	0	0	65	1000	0	190	0	1.104628e-02	0	3	0	190	2		0	0	0	0	0	2	1	1	63	975	0	187	2								-3.318793	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.710000	0.550000	0.880000	0.720000	0.721168	0.710000	0	6.300000e-01	8.000000e-01
NOL4	8715	broad.mit.edu	37	18	31523032	31523032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31523032C>T	ENST00000261592.5	-	9	1836	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	NOL4_ENST00000535384.1_Silent_p.Q228Q|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000535475.1_Silent_p.Q294Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4			51					TCAGTACCTGCTGTCTCTCCA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000261592.5	1	1	hg19	CCDS11907.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	0	1	73	311	0	73	0	1.690207e-01	0	4	0	73	2		0	0	0	0	0	2	1	1	73	304	0	73	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOL4	8715	broad.mit.edu	37	18	31537445	31537445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31537445G>A	ENST00000261592.5	-	8	1570	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	NOL4_ENST00000535384.1_Nonsense_Mutation_p.R140*|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000535475.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4			51					GGGACCATTCGGTCCAAGTTT	0.488000																								0							SO:0001587	stop_gained			ENST00000261592.5	0	1	hg19	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	40	8.247237	0.98724	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4849	20.5073	0.99209	0.0:0.0:1.0:0.0	.	.	.	.	X	425;140;351	.	ENSP00000261592:R425X	R	-	1	2	NOL4	29791443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.855000	0.98099	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	1	0	1	30	179	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	30	173	0	29	2								-3.026760	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999806	0.990000	1	9.900000e-01	1
MYOM1	8736	broad.mit.edu	37	18	3154969	3154969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3154969G>T	ENST00000356443.4	-	11	1952	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H	MYOM1_ENST00000400569.3_Missense_Mutation_p.P540H|MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1			77					TCCGAGAATAGGACTCCCTCC	0.438000																								0							SO:0001583	missense			ENST00000356443.4	1	1	hg19	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903612	0.72754	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.59772	0.24;0.24;0.24	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.259830	0.40908	D	0.000984	T	0.79782	0.4505	M	0.87827	2.91	0.40009	D	0.975262	D;D	0.76494	0.997;0.999	D;D	0.74674	0.951;0.984	D	0.84151	0.0423	10	0.87932	D	0	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	540;540	P52179-2;P52179	.;MYOM1_HUMAN	H	540	ENSP00000348821:P540H;ENSP00000383413:P540H;ENSP00000261606:P540H	ENSP00000261606:P540H	P	-	2	0	MYOM1	3144969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.670000	0.54569	2.592000	0.87571	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	1	0	1	21	79	0	24	1	7.075444e-01	8	3	0	24	2		0	0	0	0	0	2	1	9.999986e-01	21	76	0	24	2								-20.000000	1	1	0	0		1	0	1	1	1.933000	0	0.170000	2.060000	1.078147e-01	0.990000	0.900000	1.000000	1.000000	0.993633	0.990000	1	9.900000e-01	1
MYOM1	8736	broad.mit.edu	37	18	3173962	3173962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3173962G>T	ENST00000356443.4	-	8	1481	c.1148C>A	c.(1147-1149)gCt>gAt	p.A383D	MYOM1_ENST00000400569.3_Missense_Mutation_p.A383D|MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1			77					GGAAGCCCCAGCGTGGAAGCG	0.408000																								0							SO:0001583	missense			ENST00000356443.4	1	1	hg19	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117782	0.20877	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.9;0.91;0.77	5.97	3.07	0.35406	.	0.740364	0.13140	N	0.410730	T	0.28566	0.0707	N	0.08118	0	0.20489	N	0.999899	B;B	0.25772	0.127;0.134	B;B	0.29942	0.109;0.051	T	0.22871	-1.0204	10	0.15952	T	0.53	.	12.3769	0.55285	0.0:0.2439:0.6345:0.1216	.	383;383	P52179-2;P52179	.;MYOM1_HUMAN	D	383	ENSP00000348821:A383D;ENSP00000383413:A383D;ENSP00000261606:A383D	ENSP00000261606:A383D	A	-	2	0	MYOM1	3163962	0.931000	0.31567	0.010000	0.14722	0.534000	0.34807	2.833000	0.48159	0.349000	0.23975	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	1	0	1	35	194	0	42	1	7.272991e-01	7	9	0	42	2		0	0	0	0	0	2	1	1	35	192	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.933000	0	0.170000	2.060000	1.078147e-01	0.990000	0.930000	1.000000	1.000000	0.996146	0.990000	1	9.900000e-01	1
MYOM1	8736	broad.mit.edu	37	18	3193949	3193949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3193949C>T	ENST00000356443.4	-	3	631	c.298G>A	c.(298-300)Gat>Aat	p.D100N	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.D100N|MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1			77					AGACTGGAATCTGTAAGTCTG	0.373000																								0							SO:0001583	missense			ENST00000356443.4	0	1	hg19	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643507	0.14451	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51071	0.89;0.89;0.72	5.92	5.92	0.95590	.	0.141721	0.48767	D	0.000177	T	0.32194	0.0821	N	0.24115	0.695	0.33841	D	0.631436	B;B	0.13145	0.003;0.007	B;B	0.11329	0.006;0.005	T	0.36768	-0.9734	10	0.36615	T	0.2	.	8.856	0.35227	0.2551:0.6748:0.0:0.0701	.	100;100	P52179-2;P52179	.;MYOM1_HUMAN	N	100	ENSP00000348821:D100N;ENSP00000383413:D100N;ENSP00000261606:D100N	ENSP00000261606:D100N	D	-	1	0	MYOM1	3183949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.017000	0.40981	2.795000	0.96236	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	0	0	0	5	132	0	37	1	4.051796e-01	4	29	0	37	2		0	0	0	0	0	2	1	9.362938e-01	5	130	0	36	2								-3.318785	1	1	0	0		1	0	1	1	1.933000	0	0.170000	2.060000	1.078147e-01	0.410000	0.160000	0.800000	0.370000	0.443310	0.410000	0	2.600000e-01	6.100000e-01
MAPRE2	10982	broad.mit.edu	37	18	32681940	32681940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32681940C>T	ENST00000300249.5	+	4	607	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C|MAPRE2_ENST00000436190.2_Missense_Mutation_p.R131C	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2			9					AGTGAAAGGACGTTTCCAGGA	0.398000																								0							SO:0001583	missense			ENST00000300249.5	1	1	hg19	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207572	0.58343	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.28	5.28	0.74379	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	M	0.93241	3.395	0.80722	D	1	P;B;B;B	0.39282	0.666;0.058;0.152;0.093	B;B;B;B	0.37989	0.262;0.01;0.059;0.142	T	0.69859	-0.5031	10	0.52906	T	0.07	-8.5856	13.814	0.63281	0.1533:0.8467:0.0:0.0	.	131;90;143;143	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	C	100;131;143;90	ENSP00000396074:R100C;ENSP00000407723:R131C;ENSP00000300249:R143C;ENSP00000446343:R90C	ENSP00000300249:R143C	R	+	1	0	MAPRE2	30935938	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.717000	0.61923	2.461000	0.83175	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	1	0	1	56	292	0	65	1	1	12	122	0	65	2		0	0	0	0	0	2	1	1	56	287	0	64	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPRE2	10982	broad.mit.edu	37	18	32720277	32720277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32720277C>T	ENST00000300249.5	+	7	1108	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S	MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S|MAPRE2_ENST00000436190.2_Missense_Mutation_p.P298S	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2			9					CACAGAAGAGCCGGAAGCAGA	0.602000																								0							SO:0001583	missense			ENST00000300249.5	1	1	hg19	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	8.891	0.954079	0.18431	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.42513	1.0;0.97;0.99;0.97	5.42	3.55	0.40652	.	0.426342	0.26143	N	0.026096	T	0.24353	0.0590	N	0.14661	0.345	0.31443	N	0.671777	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.09377	0.001;0.004;0.003	T	0.17018	-1.0383	10	0.09843	T	0.71	-1.0451	14.0384	0.64660	0.0:0.7117:0.2883:0.0	.	298;257;310	E9PHR3;F5H1V8;Q15555	.;.;MARE2_HUMAN	S	267;298;310;257	ENSP00000396074:P267S;ENSP00000407723:P298S;ENSP00000300249:P310S;ENSP00000446343:P257S	ENSP00000300249:P310S	P	+	1	0	MAPRE2	30974275	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.233000	0.51311	0.585000	0.29608	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	1	0	1	19	110	0	19	1	9.999999e-01	26	166	0	19	2		0	0	0	0	0	2	1	9.999935e-01	19	108	0	19	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998876	0.990000	1	9.900000e-01	1
ZNF24	7572	broad.mit.edu	37	18	32917607	32917607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32917607G>A	ENST00000261332.6	-	4	875	c.696C>T	c.(694-696)acC>acT	p.T232T	ZNF24_ENST00000399061.3_Silent_p.T232T|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24			15					TGGGGAAACAGGTTTCTCCAT	0.433000													Colon(42;769 913 8916 19469 46270)											0							SO:0001819	synonymous_variant			ENST00000261332.6	1	1	hg19	CCDS11912.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	1	0	1	98	479	0	100	1	9.999185e-01	18	50	0	100	2		0	0	0	0	0	2	1	1	95	466	0	100	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF24	7572	broad.mit.edu	37	18	32920370	32920370	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32920370C>A	ENST00000261332.6	-	2	424	c.245G>T	c.(244-246)aGg>aTg	p.R82M	ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M|ZNF24_ENST00000589881.1_Missense_Mutation_p.R82M	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24			15					CGTCTCTGGCCTGAGCCACAG	0.532000													Colon(42;769 913 8916 19469 46270)											0							SO:0001583	missense			ENST00000261332.6	1	1	hg19	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800801	0.70567	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.06371	3.31;3.31	4.59	4.59	0.56863	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.56097	D	0.000028	T	0.27027	0.0662	M	0.92268	3.29	0.36671	D	0.878472	D;D	0.76494	0.999;0.985	D;P	0.64237	0.923;0.764	T	0.26710	-1.0095	10	0.56958	D	0.05	.	8.8053	0.34934	0.0:0.9001:0.0:0.0999	.	82;82	P17028-2;P17028	.;ZNF24_HUMAN	M	82	ENSP00000261332:R82M;ENSP00000382015:R82M	ENSP00000261332:R82M	R	-	2	0	ZNF24	31174368	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	1.848000	0.39309	2.563000	0.86464	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	1	0	1	97	906	0	172	1	9.991318e-01	10	86	0	172	2		0	0	0	0	0	2	1	1	97	888	0	171	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.920000	1.000000	1.000000	0.995217	0.990000	1	9.900000e-01	1
INO80C	125476	broad.mit.edu	37	18	33060428	33060428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33060428G>A	ENST00000334598.7	-	2	372	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000590757.1_Intron|INO80C_ENST00000592173.1_Missense_Mutation_p.P86S	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C			8					ACAAAGTTGGGATCCTTAAAT	0.488000																								0							SO:0001583	missense			ENST00000334598.7	1	1	hg19	CCDS11914.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142462	0.57044	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	6.02	6.02	0.97574	.	0.058844	0.64402	D	0.000001	T	0.73753	0.3627	L	0.52573	1.65	0.58432	D	0.999994	D;B;D	0.76494	0.958;0.172;0.999	P;B;D	0.68943	0.63;0.062;0.961	T	0.71938	-0.4441	9	0.46703	T	0.11	.	16.0374	0.80640	0.0:0.0:1.0:0.0	.	122;86;86	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	S	86;122;86	.	ENSP00000283410:P86S	P	-	1	0	INO80C	31314426	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.061000	0.71148	2.857000	0.98124	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	1	0	1	70	331	0	71	1	1	43	89	0	71	2		0	0	0	0	0	2	1	1	70	326	0	71	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT1	2589	broad.mit.edu	37	18	33234660	33234660	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33234660G>T	ENST00000269195.5	+	1	137	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1			21					GGTGGTCCTAGCCACCTCCTT	0.348000																								0							SO:0001583	missense			ENST00000269195.5	0	1	hg19	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110703	0.56398	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.55760	0.5	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.65498	2.005	0.80722	D	1	P	0.38148	0.62	B	0.43575	0.424	T	0.60900	-0.7171	10	0.51188	T	0.08	.	17.6198	0.88077	0.0:0.0:1.0:0.0	.	12	Q10472	GALT1_HUMAN	S	12	ENSP00000269195:A12S	ENSP00000269195:A12S	A	+	1	0	GALNT1	31488658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.819000	0.62664	2.749000	0.94314	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	0	0	1	28	135	0	32	1	9.999999e-01	28	110	0	32	2		0	0	0	0	0	2	1	1	28	132	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
COLEC12	81035	broad.mit.edu	37	18	335154	335154	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335154C>A	ENST00000400256.3	-	6	1611	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12			46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)			TCTCTCCTTTCTGTCCCTTGT	0.617000																								0							SO:0001583	missense			ENST00000400256.3	1	1	hg19	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175481	0.38413	.	.	ENSG00000158270	ENST00000400256	D	0.86164	-2.08	5.66	3.86	0.44501	.	0.100946	0.64402	D	0.000002	D	0.83797	0.5332	N	0.22421	0.69	0.40914	D	0.984257	D	0.56746	0.977	P	0.59288	0.855	T	0.82448	-0.0452	10	0.46703	T	0.11	-14.5309	4.8189	0.13381	0.1542:0.5913:0.0:0.2545	.	468	Q5KU26	COL12_HUMAN	H	468	ENSP00000383115:Q468H	ENSP00000383115:Q468H	Q	-	3	2	COLEC12	325154	0.277000	0.24220	1.000000	0.80357	0.992000	0.81027	-0.319000	0.08039	1.376000	0.46267	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1	1	0	1	66	292	0	53	0	8.439064e-01	0	17	0	53	2		0	0	0	0	0	2	1	1	65	287	0	52	2								-20.000000	1	0	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COLEC12	81035	broad.mit.edu	37	18	335176	335176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335176C>T	ENST00000400256.3	-	6	1589	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12			46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)			GCCAGTTGGGCCAGGGGGTCC	0.592000																								0							SO:0001583	missense			ENST00000400256.3	1	1	hg19	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695493	0.48202	.	.	ENSG00000158270	ENST00000400256	D	0.99532	-6.1	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97114	0.9806	10	0.87932	D	0	-14.1091	19.543	0.95281	0.0:1.0:0.0:0.0	.	461	Q5KU26	COL12_HUMAN	D	461	ENSP00000383115:G461D	ENSP00000383115:G461D	G	-	2	0	COLEC12	325176	1.000000	0.71417	0.795000	0.32087	0.473000	0.32948	7.764000	0.85297	2.601000	0.87937	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1	1	0	1	62	303	0	65	0	7.137903e-01	0	14	0	65	2		0	0	0	0	0	2	1	1	61	301	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C18orf21	83608	broad.mit.edu	37	18	33557545	33557545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33557545G>A	ENST00000592875.1	+	4	1119	c.473G>A	c.(472-474)aGc>aAc	p.S158N	C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21			5					AAAGGCAAGAGCCCAGCATCG	0.413000																								0							SO:0001583	missense			ENST00000592875.1	1	1	hg19	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540082	0.45176	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.53423	0.62	5.65	3.86	0.44501	.	0.320112	0.40554	N	0.001075	T	0.65811	0.2727	M	0.78637	2.42	0.31608	N	0.651927	D	0.89917	1.0	D	0.85130	0.997	T	0.71094	-0.4692	10	0.72032	D	0.01	.	9.0176	0.36179	0.1709:0.0:0.8291:0.0	.	158	Q32NC0	CR021_HUMAN	N	158;70	ENSP00000269194:S70N	ENSP00000269194:S70N	S	+	2	0	C18orf21	31811543	0.996000	0.38824	0.993000	0.49108	0.273000	0.26683	1.985000	0.40668	0.853000	0.35312	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	1	0	1	63	271	0	72	1	1	37	96	0	72	2		0	0	0	0	0	2	1	1	63	266	0	71	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOCOS	55034	broad.mit.edu	37	18	33780166	33780166	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33780166G>A	ENST00000261326.5	+	4	841	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase			43					AGGCCTGGGCGCTCTGCTGGT	0.562000																								0							SO:0001583	missense			ENST00000261326.5	1	1	hg19	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730474	0.89390	.	.	ENSG00000075643	ENST00000261326	D	0.87491	-2.26	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	H	0.95982	3.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.96869	0.9638	10	0.87932	D	0	-17.3464	17.225	0.86967	0.0:0.0:1.0:0.0	.	274	Q96EN8	MOCOS_HUMAN	T	274	ENSP00000261326:A274T	ENSP00000261326:A274T	A	+	1	0	MOCOS	32034164	1.000000	0.71417	0.691000	0.30163	0.516000	0.34256	9.708000	0.98727	2.677000	0.91161	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1	1	0	0	14	267	0	42	1	4.512605e-01	4	25	0	42	2		0	0	0	0	0	2	1	9.997507e-01	14	263	0	42	2								-15.853980	1	1	121412	2	36	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.590000	0.340000	0.910000	0.580000	0.608992	0.590000	0	4.500000e-01	7.500000e-01
MOCOS	55034	broad.mit.edu	37	18	33795562	33795562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33795562G>A	ENST00000261326.5	+	8	1440	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase			43					GATACATGTCGACGCTGGATG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000261326.5	1	1	hg19	CCDS11919.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1	1	0	1	36	191	0	33	1	9.447481e-01	10	18	0	33	2		0	0	0	0	0	2	1	1	34	188	0	33	2								-20.000000	1	1	121412	5	38	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
FHOD3	80206	broad.mit.edu	37	18	33935590	33935590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33935590G>A	ENST00000359247.4	+	2	254	c.254G>A	c.(253-255)gGc>gAc	p.G85D	FHOD3_ENST00000590592.1_Missense_Mutation_p.G85D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D|FHOD3_ENST00000257209.4_Missense_Mutation_p.G85D	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3			90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)			GAGTTGGAAGGCTTCCAGGAT	0.547000																								0							SO:0001583	missense			ENST00000359247.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	29.7	5.031482	0.93575	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.22134	1.97;1.97;1.97	6.06	6.06	0.98353	GTPase-binding/formin homology 3 (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.58810	1.83	0.52501	D	0.999959	D;D;P	0.89917	0.999;1.0;0.585	D;D;B	0.87578	0.987;0.998;0.109	T	0.12091	-1.0561	10	0.56958	D	0.05	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	85;85;85	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	D	85	ENSP00000257209:G85D;ENSP00000352186:G85D;ENSP00000411430:G85D	ENSP00000257209:G85D	G	+	2	0	FHOD3	32189588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.405000	0.97313	2.882000	0.98803	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	1	31	197	0	52	0	2.541422e-01	0	7	0	52	2		0	0	0	0	0	2	1	1	31	193	0	51	2								-20.000000	1	1	121412	1	26	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999639	0.990000	1	9.900000e-01	1
FHOD3	80206	broad.mit.edu	37	18	34205676	34205676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34205676G>A	ENST00000359247.4	+	10	1160	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T|FHOD3_ENST00000590592.1_Missense_Mutation_p.S387N|FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N|FHOD3_ENST00000257209.4_Missense_Mutation_p.S387N	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3			90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)			TCAGCTCCCAGCTTCAAGCCC	0.607000																								0							SO:0001583	missense			ENST00000359247.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.011	0.757616	0.15846	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23754	1.89;1.89;1.89	5.18	1.13	0.20643	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.639052	0.17160	N	0.184714	T	0.07369	0.0186	N	0.01438	-0.865	0.21802	N	0.999535	B;B;B;B	0.14805	0.005;0.0;0.0;0.011	B;B;B;B	0.11329	0.003;0.001;0.001;0.006	T	0.38178	-0.9673	10	0.15066	T	0.55	.	6.0063	0.19549	0.1994:0.3673:0.4333:0.0	.	387;387;387;387	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	N	387	ENSP00000257209:S387N;ENSP00000352186:S387N;ENSP00000411430:S387N	ENSP00000257209:S387N	S	+	2	0	FHOD3	32459674	0.009000	0.17119	0.137000	0.22149	0.985000	0.73830	0.334000	0.19787	0.138000	0.18790	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	0	76	852	0	232	1	2.301384e-01	2	9	0	232	2		0	0	0	0	0	2	1	1	76	837	0	231	2								-17.227310	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.950000	0.760000	1.000000	1.000000	0.937569	0.950000	1	8.500000e-01	1
FHOD3	80206	broad.mit.edu	37	18	34289191	34289191	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34289191A>G	ENST00000359247.4	+	14	1794	c.1794A>G	c.(1792-1794)gcA>gcG	p.A598A	FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Silent_p.A790A|FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000257209.4_Silent_p.A615A	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3			90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)			TGGAGCAGGCACTAGAGCAAG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000359247.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	1	110	482	0	102	0	5.794195e-01	0	10	0	102	2		0	0	0	0	0	2	1	1	108	469	0	100	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FHOD3	80206	broad.mit.edu	37	18	34310720	34310720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34310720G>A	ENST00000359247.4	+	16	2953	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1177T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1002T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3			90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)			GATTAAGATCGCCATTTTGAA	0.398000																								0							SO:0001583	missense			ENST00000359247.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.607431	0.96626	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23348	1.91;1.91;1.91	5.6	5.6	0.85130	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.992	T	0.70461	-0.4865	10	0.87932	D	0	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	964;985;1002	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	T	1002;985;964	ENSP00000257209:A1002T;ENSP00000352186:A985T;ENSP00000411430:A964T	ENSP00000257209:A1002T	A	+	1	0	FHOD3	32564718	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.756000	0.98918	2.629000	0.89072	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	0	29	341	0	63	0	5.629348e-02	0	5	0	63	2		0	0	0	0	0	2	1	1	29	339	0	63	2								-3.142702	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.910000	0.630000	1.000000	1.000000	0.894335	0.910000	1	7.600000e-01	1
KIAA1328	57536	broad.mit.edu	37	18	34802046	34802046	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802046C>T	ENST00000280020.5	+	10	1612	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R	KIAA1328_ENST00000591619.1_Silent_p.R526R|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Silent_p.R422R	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328			14					AACCTCAGCGCTATCCCTCCA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000280020.5	1	1	hg19	CCDS45855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	1	0	1	21	118	0	32	1	4.726726e-01	3	7	0	32	2		0	0	0	0	0	2	1	9.999978e-01	19	114	0	32	2								-12.804180	1	0	120830	1	32	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999420	0.990000	1	9.900000e-01	1
KIAA1328	57536	broad.mit.edu	37	18	34802090	34802090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802090G>A	ENST00000280020.5	+	10	1656	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KIAA1328_ENST00000591619.1_Missense_Mutation_p.R541Q|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Intron	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328			14					GGTACTTTCCGACTCAGTCCT	0.478000																								0							SO:0001583	missense			ENST00000280020.5	1	1	hg19	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	4.084	0.013449	0.07959	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.47869	0.83	5.93	-3.18	0.05186	.	0.790748	0.11311	N	0.577100	T	0.31009	0.0783	L	0.50333	1.59	0.09310	N	1	B;B	0.27971	0.002;0.196	B;B	0.15052	0.002;0.012	T	0.20505	-1.0273	10	0.18276	T	0.48	.	5.9963	0.19495	0.484:0.0:0.3084:0.2077	.	545;545	A8K8C3;Q86T90	.;K1328_HUMAN	Q	545	ENSP00000280020:R545Q	ENSP00000280020:R545Q	R	+	2	0	KIAA1328	33056088	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.898000	0.04105	-0.552000	0.06167	-0.914000	0.02751	CGA		TCGA-IB-7651-01A-11D-2154-08	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	1	0	1	14	88	0	24	0	5.653329e-01	1	12	0	24	2		0	0	0	0	0	2	1	9.998012e-01	14	86	0	24	2								-9.538419	1	0	120800	6	34	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.910000	1.000000	1.000000	0.994753	0.990000	1	9.900000e-01	1
CELF4	56853	broad.mit.edu	37	18	34839169	34839169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34839169C>T	ENST00000591282.1	-	11	1307	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CELF4_ENST00000601019.1_Silent_p.E434E|CELF4_ENST00000420428.2_Silent_p.E436E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000588597.1_Silent_p.E424E|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000412753.1_Silent_p.E435E			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4			44					TCTGCATCAGCTCAGCGTCCC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000591282.1	1	1	hg19	CCDS32818.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	1	0	0	29	147	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	1	29	140	0	42	2								-20.000000	1	1	121412	1	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
CELF4	56853	broad.mit.edu	37	18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34853000C>T	ENST00000591282.1	-	7	927	c.928G>A	c.(928-930)Gca>Aca	p.A310T	CELF4_ENST00000601019.1_Missense_Mutation_p.A308T|CELF4_ENST00000420428.2_Missense_Mutation_p.A310T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Missense_Mutation_p.A309T|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000412753.1_Missense_Mutation_p.A309T			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4			44					GTCATAGGTGCGGCCGCCAGG	0.657000																								0							SO:0001583	missense			ENST00000591282.1	1	1	hg19	CCDS32818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.55|10.55	1.382003|1.382003	0.24944|0.24944	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919|ENST00000361683	T;T;T|.	0.75477|.	-0.86;-0.88;-0.94|.	5.22|5.22	4.34|4.34	0.51931|0.51931	Nucleotide-binding, alpha-beta plait (1);|.	0.150427|.	0.64402|.	N|.	0.000014|.	T|T	0.51770|0.51770	0.1694|0.1694	N|N	0.25992|0.25992	0.78|0.78	0.48452|0.48452	D|D	0.99965|0.99965	B;B;B;B;B;B|.	0.27679|.	0.025;0.014;0.185;0.172;0.025;0.007|.	B;B;B;B;B;B|.	0.23275|.	0.022;0.008;0.021;0.045;0.014;0.004|.	T|T	0.53129|0.53129	-0.8482|-0.8482	10|6	0.10902|0.48119	T|T	0.67|0.1	-2.8965|-2.8965	10.9845|10.9845	0.47514|0.47514	0.0:0.8504:0.0:0.1496|0.0:0.8504:0.0:0.1496	.|.	308;299;35;300;309;310|.	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1|.	.;.;.;.;.;CELF4_HUMAN|.	T|H	310;309;308;300|192	ENSP00000406823:A309T;ENSP00000410584:A308T;ENSP00000335631:A300T|.	ENSP00000335631:A300T|ENSP00000355189:R192H	A|R	-|-	1|2	0|0	CELF4|CELF4	33106998|33106998	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.949000|2.949000	0.49074|0.49074	1.427000|1.427000	0.47276|0.47276	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	1	0	1	52	264	0	61	0	7.494122e-02	0	3	0	61	2		0	0	0	0	0	2	1	1	52	258	0	60	2								-3.248933	1	1	121380	5	33	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLGAP1	9229	broad.mit.edu	37	18	3581920	3581920	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581920T>C	ENST00000315677.3	-	8	2513	c.1918A>G	c.(1918-1920)Aag>Gag	p.K640E	DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1			56		Colorectal(8;0.0257)			TGGTCCTTCTTCCTGTCCTCC	0.488000																								0							SO:0001583	missense			ENST00000315677.3	1	1	hg19	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307918	0.40895	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.41	5.41	0.78517	.	0.058235	0.64402	D	0.000002	T	0.16514	0.0397	L	0.31926	0.97	0.49483	D	0.999799	P;B;B;P;B;P;B;B	0.43231	0.801;0.166;0.005;0.684;0.242;0.763;0.242;0.203	B;B;B;B;B;B;B;B	0.40825	0.341;0.138;0.026;0.341;0.232;0.23;0.232;0.098	T	0.01626	-1.1309	10	0.46703	T	0.11	-29.3278	15.4516	0.75277	0.0:0.0:0.0:1.0	.	640;324;336;346;348;338;640;338	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	E	640;338;356;330;346;324;348;338;640	ENSP00000316377:K640E;ENSP00000383011:K338E;ENSP00000383014:K356E;ENSP00000383013:K330E;ENSP00000383019:K346E;ENSP00000437817:K324E;ENSP00000446312:K348E;ENSP00000383010:K338E;ENSP00000445973:K640E	ENSP00000316377:K640E	K	-	1	0	DLGAP1	3571920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.900000	0.69853	2.038000	0.60285	0.460000	0.39030	AAG		TCGA-IB-7651-01A-11D-2154-08	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	0	0	0	12	557	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	9.990392e-01	12	548	0	85	2								-9.940881	1	1	0	0		1	0	1	1	1.933000	0	0.170000	2.060000	1.078147e-01	0.230000	0.120000	0.380000	0.230000	0.245561	0.230000	0	1.700000e-01	3.100000e-01
DLGAP1	9229	broad.mit.edu	37	18	3581922	3581922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581922C>A	ENST00000315677.3	-	8	2511	c.1916G>T	c.(1915-1917)aGg>aTg	p.R639M	DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1			56		Colorectal(8;0.0257)			GTCCTTCTTCCTGTCCTCCgt	0.493000																								0							SO:0001583	missense			ENST00000315677.3	1	1	hg19	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992460	0.35131	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.12255	2.71;2.71;2.7;2.71;2.7;2.71;2.71;2.7;2.71	5.41	5.41	0.78517	.	0.275715	0.41712	D	0.000840	T	0.24005	0.0581	L	0.34521	1.04	0.41063	D	0.985393	P;P;P;P;P;P;P;P	0.49696	0.882;0.927;0.923;0.882;0.923;0.856;0.923;0.905	P;P;P;P;P;B;P;P	0.56343	0.477;0.579;0.722;0.477;0.796;0.346;0.796;0.693	T	0.00662	-1.1621	10	0.34782	T	0.22	-26.0939	19.2071	0.93736	0.0:1.0:0.0:0.0	.	639;323;335;345;347;337;639;337	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	M	639;337;355;329;345;323;347;337;639	ENSP00000316377:R639M;ENSP00000383011:R337M;ENSP00000383014:R355M;ENSP00000383013:R329M;ENSP00000383019:R345M;ENSP00000437817:R323M;ENSP00000446312:R347M;ENSP00000383010:R337M;ENSP00000445973:R639M	ENSP00000316377:R639M	R	-	2	0	DLGAP1	3571922	0.987000	0.35691	1.000000	0.80357	0.969000	0.65631	1.747000	0.38298	2.520000	0.84964	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	1	0	1	114	456	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	113	448	0	84	2								-2.935596	1	1	0	0		1	0	1	1	1.933000	0	0.170000	2.060000	1.078147e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLGAP1	9229	broad.mit.edu	37	18	3814267	3814267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3814267G>A	ENST00000315677.3	-	5	1559	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1			56		Colorectal(8;0.0257)			CATTCATCTTGTGGAACCTAT	0.353000																								0							SO:0001587	stop_gained			ENST00000315677.3	0	1	hg19	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.900017	0.97081	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.5534	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	322;20;28;30;28;34;20;20;322	.	ENSP00000316377:Q322X	Q	-	1	0	DLGAP1	3804267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.749000	0.85096	2.832000	0.97577	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	1	0	1	90	440	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	89	434	0	66	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLGAP1	9229	broad.mit.edu	37	18	3879744	3879744	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3879744G>A	ENST00000315677.3	-	4	920	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1			56		Colorectal(8;0.0257)			GGCAGCTGCCGCTCGAACTGG	0.687000																								0							SO:0001583	missense			ENST00000315677.3	1	1	hg19	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440691	0.63067	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.18016	2.24;2.24	5.62	1.93	0.25924	.	0.052268	0.85682	D	0.000000	T	0.37433	0.1003	M	0.67953	2.075	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.67231	0.798;0.95;0.945	T	0.19549	-1.0302	10	0.87932	D	0	-26.0641	14.8458	0.70259	0.0:0.0:0.434:0.566	.	109;109;109	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	W	109	ENSP00000316377:R109W;ENSP00000445973:R109W	ENSP00000316377:R109W	R	-	1	2	DLGAP1	3869744	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	1.120000	0.31271	0.092000	0.17331	-0.181000	0.13052	CGG		TCGA-IB-7651-01A-11D-2154-08	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	1	0	1	115	499	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	113	484	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C3	5289	broad.mit.edu	37	18	39620653	39620653	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39620653T>G	ENST00000262039.4	+	19	2137	c.2051T>G	c.(2050-2052)tTt>tGt	p.F684C	PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3			49					TTCATGCAGTTTATCCAGTCA	0.358000										TSP Lung(28;0.18)			NSCLC(37;552 1060 2683 16430 37914)											0							SO:0001583	missense			ENST00000262039.4	1	1	hg19	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117974	0.77323	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81739	-1.53;-1.53	5.74	5.74	0.90152	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.045884	0.85682	D	0.000000	D	0.86556	0.5961	L	0.49350	1.555	0.80722	D	1	P;D;P	0.89917	0.584;1.0;0.521	B;D;P	0.74348	0.382;0.983;0.493	D	0.85786	0.1364	9	.	.	.	.	16.0331	0.80597	0.0:0.0:0.0:1.0	.	621;621;684	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	C	684;621	ENSP00000262039:F684C;ENSP00000381845:F621C	.	F	+	2	0	PIK3C3	37874651	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	7.421000	0.80204	2.186000	0.69663	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	1	0	1	100	465	0	99	1	9.999980e-01	21	67	0	99	2		0	0	0	0	0	2	1	1	96	465	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C3	5289	broad.mit.edu	37	18	39623705	39623705	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39623705T>A	ENST00000262039.4	+	20	2198	c.2112T>A	c.(2110-2112)ttT>ttA	p.F704L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3			49					AGAACTTTTTTAGAAAATATG	0.338000										TSP Lung(28;0.18)			NSCLC(37;552 1060 2683 16430 37914)											0							SO:0001583	missense			ENST00000262039.4	1	1	hg19	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	9.354	1.066183	0.20067	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.83075	-1.68;-1.68	5.46	-1.11	0.09840	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.177758	0.50627	D	0.000117	T	0.61060	0.2317	N	0.15975	0.35	0.80722	D	1	B;P;B	0.39576	0.019;0.679;0.016	B;B;B	0.36666	0.037;0.23;0.011	T	0.48927	-0.8991	9	.	.	.	.	5.5724	0.17204	0.1396:0.4296:0.0:0.4308	.	641;641;704	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	L	704;641	ENSP00000262039:F704L;ENSP00000381845:F641L	.	F	+	3	2	PIK3C3	37877703	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.018000	0.30002	-0.112000	0.11979	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	1	0	1	78	282	0	60	1	9.999993e-01	18	59	0	60	2		0	0	0	0	0	2	1	1	76	277	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT4	6860	broad.mit.edu	37	18	40853651	40853651	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853651A>C	ENST00000255224.3	-	2	1111	c.743T>G	c.(742-744)tTt>tGt	p.F248C	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.F230C	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV			44					ATCTCTTGAAAACCTGTCAAA	0.368000													NSCLC(85;81 1419 2855 22820 35912)											0							SO:0001583	missense			ENST00000255224.3	1	1	hg19	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884436	0.72410	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.09817	2.94	5.72	5.72	0.89469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.54118	-0.8341	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	230;248	B4DEU3;Q9H2B2	.;SYT4_HUMAN	C	248;53	ENSP00000255224:F248C	ENSP00000255224:F248C	F	-	2	0	SYT4	39107649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.311000	0.77944	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	1	0	1	69	282	0	60	0	3.977209e-02	0	2	0	60	2		0	0	0	0	0	2	1	1	69	278	0	60	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT4	6860	broad.mit.edu	37	18	40853833	40853833	+	Silent	SNP	C	C	T	rs138240289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853833C>T	ENST00000255224.3	-	2	929	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.S169S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV			44					CAGAGGTCATCGACTGCTCAT	0.443000													NSCLC(85;81 1419 2855 22820 35912)											0							SO:0001819	synonymous_variant			ENST00000255224.3	1	1	hg19	CCDS11922.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	0	0	1	72	257	0	69	0	3.056167e-01	0	5	0	69	2		0	0	0	0	0	2	1	1	71	253	0	68	2								-4.052216	1	1	121412	17	43	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SETBP1	26040	broad.mit.edu	37	18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42531860C>T	ENST00000282030.5	+	4	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1			104					AAGGAAATCACGCTGTCCCCT	0.562000									Schinzel-Giedion syndrome															0							SO:0001583	missense	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	ENST00000282030.5	1	1	hg19	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634191	0.67130	.	.	ENSG00000152217	ENST00000282030	D	0.91124	-2.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	852	Q9Y6X0	SETBP_HUMAN	M	852	ENSP00000282030:T852M	ENSP00000282030:T852M	T	+	2	0	SETBP1	40785858	1.000000	0.71417	0.738000	0.30950	0.992000	0.81027	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	1	0	1	34	205	0	52	0	4.335110e-01	0	10	0	52	2		0	0	0	0	0	2	1	1	31	201	0	52	2								-20.000000	1	1	121412	1	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999886	0.990000	1	9.900000e-01	1
SETBP1	26040	broad.mit.edu	37	18	42643106	42643106	+	Missense_Mutation	SNP	C	C	T	rs145996171	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42643106C>T	ENST00000282030.5	+	6	4530	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1			104					GTGCGAAGTGCGGAAGATGTG	0.532000									Schinzel-Giedion syndrome															0							SO:0001583	missense	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	ENST00000282030.5	0	1	hg19	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153410	0.78114	.	.	ENSG00000152217	ENST00000282030	D	0.83673	-1.75	5.27	4.38	0.52667	.	0.000000	0.64402	D	0.000001	D	0.86468	0.5940	L	0.32530	0.975	0.39997	D	0.975114	D	0.89917	1.0	D	0.91635	0.999	D	0.88512	0.3090	10	0.87932	D	0	.	15.0866	0.72158	0.1431:0.8569:0.0:0.0	.	1412	Q9Y6X0	SETBP_HUMAN	W	1412	ENSP00000282030:R1412W	ENSP00000282030:R1412W	R	+	1	2	SETBP1	40897104	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.483000	0.53194	1.305000	0.44909	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	1	0	1	45	245	1	58	0	6.561095e-01	0	21	1	58	3		0	0	0	0	0	2	1	9.999618e-01	43	235	1	57	16								-4.423610	1	1	121412	113	50	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SLC14A2	8170	broad.mit.edu	37	18	43224100	43224100	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43224100C>T	ENST00000255226.6	+	10	2142	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	SLC14A2_ENST00000586448.1_Silent_p.S442S|RP11-116O18.1_ENST00000590535.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2			63					CAGTGAAAAGCGGTGAAGAAG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000255226.6	1	1	hg19	CCDS11924.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1	1	0	0	99	534	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	97	517	0	140	2								-20.000000	1	1	121412	4	38	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC14A2	8170	broad.mit.edu	37	18	43262376	43262376	+	Silent	SNP	G	G	T	rs143610580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43262376G>T	ENST00000255226.6	+	20	3471	c.2655G>T	c.(2653-2655)ccG>ccT	p.P885P	SLC14A2_ENST00000586448.1_Silent_p.P885P|SLC14A2_ENST00000589658.1_Silent_p.P362P|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	p.P885P(1)		63					ACAAGCTCCCGCTCAGCAAAG	0.542000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000255226.6	1	1	hg19	CCDS11924.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1	1	0	1	186	815	0	239		0	0	0	0	239	2		0	0	0	0	0	2	1	1	181	778	0	236	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP5A1	498	broad.mit.edu	37	18	43669626	43669626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669626G>A	ENST00000398752.6	-	5	677	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	ATP5A1_ENST00000282050.2_Missense_Mutation_p.R186W|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R164W|ATP5A1_ENST00000593152.2_Missense_Mutation_p.R136W	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle			22					ATTGGTTCCCGCACTGAAATT	0.478000																								0							SO:0001583	missense			ENST00000398752.6	0	1	hg19	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848400	0.71603	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.81821	-1.54;-1.54	5.16	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.87827	2.91	0.54753	D	0.999984	D	0.60160	0.987	P	0.48952	0.596	D	0.86904	0.2056	10	0.87932	D	0	-3.2527	13.0158	0.58757	0.0:0.0:0.575:0.425	.	186	P25705	ATPA_HUMAN	W	186;186;136	ENSP00000282050:R186W;ENSP00000381736:R186W	ENSP00000282050:R186W	R	-	1	2	ATP5A1	41923624	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.322000	0.43814	0.546000	0.28920	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	0	0	0	8	367	0	51	1	9.999944e-01	3	1426	0	51	2		0	0	0	0	0	2	1	9.887131e-01	8	360	0	50	2								-2.697182	1	0	121412	2	37	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.260000	0.120000	0.460000	0.240000	0.275936	0.260000	0	1.800000e-01	3.600000e-01
ATP5A1	498	broad.mit.edu	37	18	43669671	43669671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669671G>A	ENST00000398752.6	-	5	632	c.511C>T	c.(511-513)Cga>Tga	p.R171*	ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*|ATP5A1_ENST00000593152.2_Nonsense_Mutation_p.R121*	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle			22					AGACCAACTCGCCTACGCGTC	0.438000																								0							SO:0001587	stop_gained			ENST00000398752.6	0	1	hg19	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	41	8.968810	0.99019	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	.	.	.	5.16	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2256	10.5373	0.45011	0.0:0.0:0.5583:0.4417	.	.	.	.	X	171;171;121	.	ENSP00000282050:R171X	R	-	1	2	ATP5A1	41923669	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.120000	0.57897	2.411000	0.81874	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	1	0	1	67	316	0	60	1	1	8	1141	0	60	2		0	0	0	0	0	2	1	1	66	307	0	59	2								-3.275713	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C18orf25	147339	broad.mit.edu	37	18	43842923	43842923	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43842923A>T	ENST00000282059.6	+	5	1428	c.1054A>T	c.(1054-1056)Agt>Tgt	p.S352C	C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25			11					TGTGATTCAGAGTGTTTCTTC	0.483000																								0							SO:0001583	missense			ENST00000282059.6	1	1	hg19	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986319	0.74589	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	T	0.78630	-0.2129	9	0.87932	D	0	-7.6025	14.9214	0.70841	1.0:0.0:0.0:0.0	.	291;352	Q96B23-2;Q96B23	.;CR025_HUMAN	C	352;291	.	ENSP00000282059:S352C	S	+	1	0	C18orf25	42096921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.584000	0.82572	1.920000	0.55613	0.460000	0.39030	AGT		TCGA-IB-7651-01A-11D-2154-08	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	1	0	1	65	353	0	81	1	9.998988e-01	23	52	0	81	2		0	0	0	0	0	2	1	1	65	343	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF165	494470	broad.mit.edu	37	18	44035936	44035936	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44035936G>T	ENST00000269439.7	+	7	867		c.e7-1		RNF165_ENST00000543885.1_Splice_Site	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165			11					GCTTCTCATAGCGAAGACCCC	0.522000																								0							SO:0001630	splice_region_variant			ENST00000269439.7	0	1	hg19	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462751	0.84425	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.459	0.87615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF165	42289934	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	9.353000	0.97080	2.218000	0.71995	0.305000	0.20034	.		TCGA-IB-7651-01A-11D-2154-08	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	0	0	0	4	90	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	8.868037e-01	4	88	0	19	2								-4.024810	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.530000	0.180000	1.000000	1.000000	0.568183	0.530000	0	3.300000e-01	8.100000e-01
ST8SIA5	29906	broad.mit.edu	37	18	44260357	44260357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44260357C>T	ENST00000315087.7	-	7	1439	c.779G>A	c.(778-780)cGc>cAc	p.R260H	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5			22					GTACTTGACGCGGATGGACAC	0.612000																								0							SO:0001583	missense			ENST00000315087.7	0	1	hg19	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571418	0.96553	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.32272	1.46;1.46;1.46	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.985;0.998	T	0.63892	-0.6534	10	0.22109	T	0.4	-8.1148	19.4172	0.94706	0.0:1.0:0.0:0.0	.	229;296;260	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	H	260;296;229	ENSP00000321343:R260H;ENSP00000445492:R296H;ENSP00000443683:R229H	ENSP00000321343:R260H	R	-	2	0	ST8SIA5	42514355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.094000	0.71431	2.584000	0.87258	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	1	0	1	20	145	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	9.999966e-01	20	144	0	21	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.900000	1.000000	1.000000	0.994314	0.990000	1	9.900000e-01	1
ST8SIA5	29906	broad.mit.edu	37	18	44336397	44336397	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44336397G>A	ENST00000315087.7	-	1	735	c.75C>T	c.(73-75)gcC>gcT	p.A25A	ST8SIA5_ENST00000538168.1_Silent_p.A25A|RP11-742D12.2_ENST00000602329.1_RNA|RP11-742D12.2_ENST00000602333.1_RNA|ST8SIA5_ENST00000536490.1_Silent_p.A25A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5			22					CCAAGGCAAAGGCGCAGATGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000315087.7	1	1	hg19	CCDS11930.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	1	0	1	64	349	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	64	348	0	85	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIAS2	9063	broad.mit.edu	37	18	44470643	44470643	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470643C>A	ENST00000585916.1	-	2	398	c.399G>T	c.(397-399)caG>caT	p.Q133H	PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2			22					GAGATGGCTGCTGCATCTCAA	0.473000																								0							SO:0001583	missense			ENST00000585916.1	1	1	hg19	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154880	0.38021	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.32515	1.45	6.06	6.06	0.98353	.	0.050470	0.85682	D	0.000000	T	0.27798	0.0684	L	0.28274	0.84	0.80722	D	1	B;B;B;B	0.26512	0.012;0.007;0.151;0.057	B;B;B;B	0.25884	0.012;0.005;0.064;0.029	T	0.02477	-1.1153	10	0.42905	T	0.14	-6.6939	20.6244	0.99512	0.0:1.0:0.0:0.0	.	137;133;133;133	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	H	133;133;129;133	ENSP00000317163:Q133H	ENSP00000262161:Q133H	Q	-	3	2	PIAS2	42724641	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	3.066000	0.50002	2.879000	0.98667	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	1	0	1	41	170	0	44	1	9.988573e-01	10	36	0	44	2		0	0	0	0	0	2	1	1	40	166	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIAS2	9063	broad.mit.edu	37	18	44470901	44470901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470901G>A	ENST00000585916.1	-	2	140	c.141C>T	c.(139-141)agC>agT	p.S47S	PIAS2_ENST00000324794.7_Silent_p.S47S|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2			22					GGCTGCAGCCGCTCTTCAATA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000585916.1	1	1	hg19	CCDS32824.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	1	0	1	64	483	0	99	0	8.786451e-01	1	29	0	99	2		0	0	0	0	0	2	1	1	63	481	0	97	2								-2.920854	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999762	0.990000	1	9.900000e-01	1
TCEB3CL	728929	broad.mit.edu	37	18	44549187	44549187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549187G>A	ENST00000451265.1	-	1	1347	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	p.T371M(1)		3					CTGATCGGGCGTCCACCCTTC	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000451265.1	1	1	hg19	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991850	0.35131	.	.	ENSG00000234298	ENST00000451265	T	0.34859	1.34	1.5	0.603	0.17541	.	0.000000	0.52532	D	0.000078	T	0.47021	0.1423	M	0.63843	1.955	0.25300	N	0.989283	D	0.71674	0.998	P	0.61874	0.895	T	0.30357	-0.9981	10	0.56958	D	0.05	-24.5205	7.7008	0.28621	0.0:0.2651:0.7349:0.0	.	371	Q3SY89	EA3L1_HUMAN	M	371	ENSP00000409932:T371M	ENSP00000409932:T371M	T	-	2	0	TCEB3CL	42803185	0.992000	0.36948	0.000000	0.03702	0.000000	0.00434	2.511000	0.45476	0.221000	0.20879	-0.232000	0.12228	ACG		TCGA-IB-7651-01A-11D-2154-08	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	0	0	0	97	2642	0	482		0	0	0	0	482	2		0	0	0	0	0	2	1	1	96	2603	0	775	2								-4.214585	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.410000	0.330000	0.500000	0.410000	0.418076	0.410000	0	3.700000e-01	4.600000e-01
TCEB3B	51224	broad.mit.edu	37	18	44559411	44559411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44559411G>A	ENST00000332567.4	-	1	2577	c.2225C>T	c.(2224-2226)gCa>gTa	p.A742V	TCEB3C_ENST00000330682.2_5'Flank|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)			58					GTCTCGAATTGCCTTGGCCAT	0.567000																								0							SO:0001583	missense			ENST00000332567.4	1	1	hg19	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078773	0.36662	.	.	ENSG00000206181	ENST00000332567	T	0.07567	3.18	1.62	-0.654	0.11443	.	0.693792	0.11843	N	0.524097	T	0.11153	0.0272	L	0.44542	1.39	0.09310	N	1	D	0.58268	0.982	P	0.54664	0.758	T	0.19386	-1.0307	10	0.41790	T	0.15	-1.6528	3.5071	0.07695	0.0:0.2844:0.4274:0.2882	.	742	Q8IYF1	ELOA2_HUMAN	V	742	ENSP00000331302:A742V	ENSP00000331302:A742V	A	-	2	0	TCEB3B	42813409	0.186000	0.23225	0.001000	0.08648	0.002000	0.02628	0.417000	0.21214	-0.196000	0.10366	-0.222000	0.12452	GCA		TCGA-IB-7651-01A-11D-2154-08	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	1	0	1	141	732	0	175		0	0	0	0	175	2		0	0	0	0	0	2	1	1	138	714	0	170	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCEB3B	51224	broad.mit.edu	37	18	44560824	44560824	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44560824G>T	ENST00000332567.4	-	1	1164	c.812C>A	c.(811-813)gCc>gAc	p.A271D	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)			58					CCTGTCCCTGGCACTTGCCCA	0.607000																								0							SO:0001583	missense			ENST00000332567.4	1	1	hg19	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727164	0.30593	.	.	ENSG00000206181	ENST00000332567	T	0.08896	3.04	1.95	-0.817	0.10836	.	1.007460	0.08007	U	0.989744	T	0.07908	0.0198	N	0.24115	0.695	0.09310	N	1	P	0.47604	0.898	P	0.46685	0.524	T	0.41627	-0.9498	10	0.36615	T	0.2	.	8.5403	0.33388	0.0:0.6645:0.3355:0.0	.	271	Q8IYF1	ELOA2_HUMAN	D	271	ENSP00000331302:A271D	ENSP00000331302:A271D	A	-	2	0	TCEB3B	42814822	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.334000	0.19787	-0.232000	0.09811	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	0	0	0	28	825	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	1	27	806	0	164	2								-3.203239	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.380000	0.250000	0.540000	0.390000	0.395012	0.380000	0	3.100000e-01	4.600000e-01
TCEB3B	51224	broad.mit.edu	37	18	44561072	44561072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44561072C>T	ENST00000332567.4	-	1	916	c.564G>A	c.(562-564)gcG>gcA	p.A188A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)			58					GCTTCCCGGGCGCAGCGGGCT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000332567.4	1	1	hg19	CCDS11932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	1	0	0	62	287	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	62	280	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDHD2	84064	broad.mit.edu	37	18	44662797	44662797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44662797C>T	ENST00000300605.6	-	2	166	c.14G>A	c.(13-15)cGt>cAt	p.R5H	HDHD2_ENST00000587841.1_Intron|IER3IP1_ENST00000588705.1_3'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2			6					TTTTAATGCACGGCATGCTGC	0.408000																								0							SO:0001583	missense			ENST00000300605.6	1	1	hg19	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345040	0.61073	2.27E-4	0.0	ENSG00000167220	ENST00000300605	T	0.32988	1.43	5.76	4.88	0.63580	HAD-like domain (1);	0.652062	0.15970	N	0.235809	T	0.27384	0.0672	L	0.41824	1.3	0.53688	D	0.999979	B	0.29037	0.231	B	0.21151	0.033	T	0.08638	-1.0712	10	0.72032	D	0.01	-0.0751	15.0729	0.72053	0.0:0.931:0.0:0.069	.	5	Q9H0R4	HDHD2_HUMAN	H	5	ENSP00000300605:R5H	ENSP00000300605:R5H	R	-	2	0	HDHD2	42916795	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	4.102000	0.57776	2.720000	0.93068	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	1	0	1	37	207	0	63	1	9.998969e-01	15	66	0	63	2		0	0	0	0	0	2	1	1	36	204	0	63	2								-3.332034	1	1	121412	4	38	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
SMAD7	4092	broad.mit.edu	37	18	46448083	46448083	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448083G>A	ENST00000262158.2	-	4	1226	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7			10	Colorectal(1;0.0518)				ATTTTGCTCCGCACCTTCTGC	0.557000																								0							SO:0001583	missense			ENST00000262158.2	1	1	hg19	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796564	0.70567	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.99698	-6.44	5.66	4.78	0.61160	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97312	0.9938	10	0.87932	D	0	.	16.1773	0.81862	0.0:0.0:0.866:0.134	.	314;126	O15105;B3KYA8	SMAD7_HUMAN;.	W	99;314	ENSP00000262158:R314W	ENSP00000262158:R314W	R	-	1	2	SMAD7	44702081	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.740000	0.74832	1.359000	0.45940	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	1	0	1	48	255	0	52	1	9.999998e-01	8	119	0	52	2		0	0	0	0	0	2	1	1	48	251	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SMAD7	4092	broad.mit.edu	37	18	46448237	46448237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448237G>A	ENST00000262158.2	-	4	1072	c.786C>T	c.(784-786)tgC>tgT	p.C262C	SMAD7_ENST00000591805.1_Silent_p.C47C|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.C261C	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	p.C262C(1)		10	Colorectal(1;0.0518)				ATGCCACCACGCACCAGTGTG	0.537000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000262158.2	1	1	hg19	CCDS11936.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	1	0	0	43	241	0	75	1	9.999995e-01	6	121	0	75	2		0	0	0	0	0	2	1	1	43	236	0	75	2								-3.327646	1	1	121386	1	29	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
DYM	54808	broad.mit.edu	37	18	46808509	46808509	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46808509A>T	ENST00000269445.6	-	10	1440	c.983T>A	c.(982-984)tTc>tAc	p.F328Y	DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin			18					GTTGATCTGGAAGGCATGTGG	0.363000																								0							SO:0001583	missense			ENST00000269445.6	1	1	hg19	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	A	33	5.220756	0.95139	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.82984	-1.67;-1.67	5.53	5.53	0.82687	.	0.087292	0.85682	D	0.000000	D	0.91140	0.7210	M	0.82056	2.57	0.80722	D	1	D;D;D	0.67145	0.99;0.991;0.996	P;D;P	0.74023	0.844;0.982;0.842	D	0.92346	0.5885	10	0.87932	D	0	-21.8803	15.9991	0.80275	1.0:0.0:0.0:0.0	.	138;150;328	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	Y	138;328	ENSP00000395942:F138Y;ENSP00000269445:F328Y	ENSP00000269445:F328Y	F	-	2	0	DYM	45062507	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.171000	0.94802	2.240000	0.73641	0.472000	0.43445	TTC		TCGA-IB-7651-01A-11D-2154-08	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	1	0	1	46	236	0	51	1	9.999992e-01	28	84	0	51	2		0	0	0	0	0	2	1	1	44	228	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DYM	54808	broad.mit.edu	37	18	46812850	46812850	+	Silent	SNP	C	C	T	rs142473333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46812850C>T	ENST00000269445.6	-	9	1357	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DYM_ENST00000442713.2_Silent_p.A110A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin			18					AGGGGTTTGGCGCATCTGAGG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000269445.6	1	1	hg19	CCDS11937.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	1	0	1	130	528	0	143	1	1	33	98	0	143	2		0	0	0	0	0	2	1	1	128	521	0	142	2								-3.280124	1	1	121412	2	41	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPG	9388	broad.mit.edu	37	18	47091750	47091750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47091750G>A	ENST00000261292.4	+	2	439	c.161G>A	c.(160-162)cGc>cAc	p.R54H	LIPG_ENST00000580036.1_Missense_Mutation_p.R54H|LIPG_ENST00000577628.1_Missense_Mutation_p.R90H|LIPG_ENST00000427224.2_Missense_Mutation_p.R54H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial			18					TTTAACCTCCGCACCTCCAAG	0.517000													Pancreas(126;280 1778 12814 26243 34948)											0							SO:0001583	missense			ENST00000261292.4	1	1	hg19	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013161	0.35511	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.90504	-2.68;-2.68	5.34	1.49	0.22878	Lipase, N-terminal (1);	0.251674	0.44688	D	0.000424	T	0.78381	0.4274	N	0.16066	0.365	0.30685	N	0.751944	B;B;B	0.24768	0.024;0.111;0.099	B;B;B	0.25291	0.027;0.059;0.024	T	0.68123	-0.5492	10	0.37606	T	0.19	-24.4886	4.4407	0.11573	0.2138:0.0:0.5156:0.2705	.	54;54;54	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	54	ENSP00000261292:R54H;ENSP00000387978:R54H	ENSP00000261292:R54H	R	+	2	0	LIPG	45345748	0.998000	0.40836	0.898000	0.35279	0.772000	0.43724	3.609000	0.54117	-0.010000	0.14271	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	1	0	1	52	223	0	73	0	7.356288e-01	0	13	0	73	2		0	0	0	0	0	2	1	1	52	221	0	73	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPG	9388	broad.mit.edu	37	18	47101920	47101920	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47101920C>T	ENST00000261292.4	+	5	1031	c.753C>T	c.(751-753)ggC>ggT	p.G251G	LIPG_ENST00000580036.1_Silent_p.G251G|LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000427224.2_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial			18					TCCAGCCAGGCTGTGGACTCA	0.483000													Pancreas(126;280 1778 12814 26243 34948)											0							SO:0001819	synonymous_variant			ENST00000261292.4	1	1	hg19	CCDS11938.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	0	0	1	41	180	0	62	1	8.477075e-01	4	13	0	62	2		0	0	0	0	0	2	1	1	41	175	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPG	9388	broad.mit.edu	37	18	47110052	47110052	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110052G>T	ENST00000261292.4	+	8	1562	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	LIPG_ENST00000427224.2_Missense_Mutation_p.K354N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial			18					ACCTGTGGAAGGAGTTTCGCA	0.587000													Pancreas(126;280 1778 12814 26243 34948)											0							SO:0001583	missense			ENST00000261292.4	1	1	hg19	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	8.238	0.806250	0.16467	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86694	-2.16;-1.68	5.6	-1.66	0.08265	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.531819	0.23813	N	0.044313	T	0.61515	0.2353	N	0.05351	-0.065	0.09310	N	0.999991	B;B	0.17465	0.013;0.022	B;B	0.20955	0.032;0.02	T	0.54576	-0.8273	10	0.02654	T	1	-8.2979	1.0417	0.01560	0.2629:0.1916:0.3436:0.2018	.	354;428	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	N	428;354	ENSP00000261292:K428N;ENSP00000387978:K354N	ENSP00000261292:K428N	K	+	3	2	LIPG	45364050	0.273000	0.24181	0.508000	0.27688	0.968000	0.65278	0.040000	0.13905	-0.211000	0.10124	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	0	0	1	54	177	0	51	1	9.865400e-01	3	22	0	51	2		0	0	0	0	0	2	1	1	53	170	0	51	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPG	9388	broad.mit.edu	37	18	47110060	47110060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110060G>A	ENST00000261292.4	+	8	1570	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	LIPG_ENST00000427224.2_Missense_Mutation_p.R357H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial			18					AAGGAGTTTCGCAGCTACCTG	0.587000													Pancreas(126;280 1778 12814 26243 34948)											0							SO:0001583	missense			ENST00000261292.4	1	1	hg19	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683239	0.68157	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86627	-2.15;-1.64	5.38	4.51	0.55191	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.214441	0.47852	D	0.000208	D	0.90525	0.7031	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.912	D	0.89655	0.3872	10	0.51188	T	0.08	-20.9923	8.7691	0.34722	0.2273:0.0:0.7727:0.0	.	357;431	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	H	431;357	ENSP00000261292:R431H;ENSP00000387978:R357H	ENSP00000261292:R431H	R	+	2	0	LIPG	45364058	0.005000	0.15991	1.000000	0.80357	0.965000	0.64279	1.242000	0.32755	1.274000	0.44362	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	1	0	1	37	172	0	41	1	9.272892e-01	4	19	0	41	2		0	0	0	0	0	2	1	1	36	167	0	41	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MYO5B	4645	broad.mit.edu	37	18	47363197	47363197	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363197C>T	ENST00000285039.7	-	38	5496	c.5197G>A	c.(5197-5199)Gca>Aca	p.A1733T	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T|MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB			87					GTCTGAACTGCTCCACTCTGG	0.507000																								0							SO:0001583	missense			ENST00000285039.7	1	1	hg19	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337726	0.95758	0.0	1.21E-4	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.87729	-2.29;2.27	4.98	4.98	0.66077	Dilute (1);Dil domain (1);	0.000000	0.64402	D	0.000002	D	0.93249	0.7849	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	0.988;1.0	P;D	0.97110	0.893;1.0	D	0.93336	0.6705	10	0.59425	D	0.04	.	18.4226	0.90597	0.0:1.0:0.0:0.0	.	1733;848	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	1733;848	ENSP00000285039:A1733T;ENSP00000315531:A848T	ENSP00000285039:A1733T	A	-	1	0	MYO5B	45617195	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	5.913000	0.69957	2.738000	0.93877	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	1	31	231	0	37	1	9.999940e-01	54	89	0	37	2		0	0	0	0	0	2	1	1	31	225	0	36	2								-20.000000	1	1	120850	1	32	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.997561	0.990000	1	9.900000e-01	1
MYO5B	4645	broad.mit.edu	37	18	47363955	47363955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363955G>A	ENST00000285039.7	-	37	5369	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.N805N|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|MYO5B_ENST00000592688.1_Silent_p.N260N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB			87					GAGTCACTGCGTTGATCATGT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000285039.7	1	1	hg19	CCDS42436.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	0	53	199	0	44	1	1	51	97	0	44	2		0	0	0	0	0	2	1	1	53	191	0	44	2								-20.000000	1	0	120954	13	41	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO5B	4645	broad.mit.edu	37	18	47373547	47373547	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47373547G>A	ENST00000285039.7	-	33	4727	c.4428C>T	c.(4426-4428)gaC>gaT	p.D1476D	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.D591D|MYO5B_ENST00000592688.1_Silent_p.D46D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB			87					GGAGGGCCTCGTCCTCTTTGT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000285039.7	1	1	hg19	CCDS42436.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	0	33	347	0	54	1	9.999896e-01	35	151	0	54	2		0	0	0	0	0	2	1	1	31	334	0	54	2								-10.811180	1	1	121104	1	34	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.710000	1.000000	1.000000	0.947166	0.990000	1	8.500000e-01	1
MYO5B	4645	broad.mit.edu	37	18	47390710	47390710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47390710T>C	ENST00000285039.7	-	28	3943	c.3644A>G	c.(3643-3645)gAc>gGc	p.D1215G	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB			87					CTCATTCAGGTCATTCTTCAG	0.572000																								0							SO:0001583	missense			ENST00000285039.7	1	1	hg19	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636939	0.87760	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.22743	1.94;1.94	5.5	5.5	0.81552	.	0.225560	0.44688	D	0.000437	T	0.33294	0.0858	M	0.71036	2.16	0.80722	D	1	B;P	0.35456	0.091;0.502	B;B	0.42188	0.21;0.379	T	0.10314	-1.0635	10	0.56958	D	0.05	.	15.2853	0.73822	0.0:0.0:0.0:1.0	.	1215;356	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	G	1215;356	ENSP00000285039:D1215G;ENSP00000315531:D356G	ENSP00000285039:D1215G	D	-	2	0	MYO5B	45644708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.020000	0.88740	2.093000	0.63338	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	0	0	1	225	1085	1	204	1	9.997588e-01	34	58	1	204	5		0	0	0	0	0	2	1	1	223	1071	1	203	29								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO5B	4645	broad.mit.edu	37	18	47398552	47398552	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47398552G>T	ENST00000285039.7	-	27	3887	c.3588C>A	c.(3586-3588)gcC>gcA	p.A1196A	MYO5B_ENST00000587895.1_5'UTR|Y_RNA_ENST00000364798.1_RNA|MYO5B_ENST00000324581.6_Silent_p.A337A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB			87					GACTATTGTAGGCCAGATCTG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000285039.7	1	1	hg19	CCDS42436.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	0	0	0	67	2028	0	481	1	6.981754e-01	5	70	0	481	2		0	0	0	0	0	2	1	1	64	1987	0	479	2								-3.070155	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.370000	0.280000	0.470000	0.370000	0.378970	0.370000	0	3.200000e-01	4.200000e-01
MYO5B	4645	broad.mit.edu	37	18	47429162	47429162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47429162C>T	ENST00000285039.7	-	21	2912	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	MYO5B_ENST00000324581.6_Silent_p.V12V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB			87					TCCAGCCCCGCACGTGCTTCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000285039.7	1	1	hg19	CCDS42436.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	1	42	139	0	31	1	9.999889e-01	23	39	0	31	2		0	0	0	0	0	2	1	1	42	137	0	29	2								-20.000000	1	1	120954	1	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO5B	4645	broad.mit.edu	37	18	47500787	47500787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47500787G>A	ENST00000285039.7	-	10	1554	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB			87					TTGTTGATGTGCTCCACAATC	0.582000																								0							SO:0001583	missense			ENST00000285039.7	1	1	hg19	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708535	0.89018	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.87256	-2.23	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	L	0.48218	1.51	0.80722	D	1	B;B	0.25667	0.131;0.001	P;B	0.46419	0.516;0.006	D	0.84433	0.0578	10	0.21014	T	0.42	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	418;419	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	Y	419;418	ENSP00000285039:H419Y	ENSP00000285039:H419Y	H	-	1	0	MYO5B	45754785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.751000	0.98889	2.735000	0.93741	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2	1	0	1	19	392	0	79	1	7.486629e-01	9	48	0	79	2		0	0	0	0	0	2	1	9.999902e-01	19	388	0	79	2								-4.664761	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.540000	0.340000	0.800000	0.530000	0.560346	0.540000	0	4.300000e-01	6.800000e-01
CCDC11	0	broad.mit.edu	37	18	47787442	47787442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47787442C>T	ENST00000398545.4	-	3	582	c.465G>A	c.(463-465)caG>caA	p.Q155Q		NM_145020.3	NP_659457.2						20					ACCTGAATTGCTGGTCTAGCT	0.313000																								0							SO:0001819	synonymous_variant			ENST00000398545.4	1	1	hg19	CCDS11940.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3	0	0	1	130	572	0	93	0	3.484043e-02	1	1	0	93	2		0	0	0	0	0	2	1	1	121	562	0	93	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBD1	4152	broad.mit.edu	37	18	47806310	47806310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47806310C>T	ENST00000591416.1	-	2	484	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1			36					AAAGACTTCGCGGCGCTTCCA	0.632000																								0							SO:0001583	missense			ENST00000591416.1	1	1	hg19	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422881	0.83559	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78	4.35	4.35	0.52113	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.48286	D	0.000200	D	0.99168	0.9712	M	0.65320	2	0.39293	D	0.964775	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.999;1.0;0.999;0.997;0.997;0.996;1.0;0.997;1.0	D	0.99880	1.1112	10	0.87932	D	0	-9.431	14.7516	0.69530	0.0:1.0:0.0:0.0	.	18;44;18;18;18;18;18;18;18;18;18	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	H	18;18;18;18;18;18;18;44;18;18;18;18;18	ENSP00000372407:R18H;ENSP00000269469:R18H;ENSP00000342531:R18H;ENSP00000269468:R18H;ENSP00000285102:R18H;ENSP00000409561:R18H;ENSP00000269471:R18H;ENSP00000408846:R44H;ENSP00000339546:R18H;ENSP00000381508:R18H;ENSP00000405268:R18H;ENSP00000381506:R18H;ENSP00000381502:R18H	ENSP00000269468:R18H	R	-	2	0	MBD1	46060308	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.952000	0.56691	2.143000	0.66587	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	1	0	1	44	240	0	48	1	1	49	105	0	48	2		0	0	0	0	0	2	1	1	43	234	0	48	2								-20.000000	1	1	121412	1	32	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
CXXC1	30827	broad.mit.edu	37	18	47809894	47809894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47809894C>T	ENST00000285106.6	-	12	2279	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H|MBD1_ENST00000585595.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000424334.2_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1			24					CCCTTCAATGCGTGTGGGGTA	0.592000																								0							SO:0001583	missense			ENST00000285106.6	1	1	hg19	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543446	0.86022	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26067	1.76;1.76	4.49	4.49	0.54785	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.956;0.974;0.98	T	0.50242	-0.8851	10	0.72032	D	0.01	-13.1822	15.0406	0.71788	0.0:1.0:0.0:0.0	.	526;522;389	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	H	522;526	ENSP00000285106:R522H;ENSP00000390475:R526H	ENSP00000285106:R522H	R	-	2	0	CXXC1	46063892	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.054000	0.76649	2.212000	0.71576	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	1	0	1	26	119	0	27	1	1	46	123	0	27	2		0	0	0	0	0	2	1	9.999999e-01	24	117	0	26	2								-20.000000	1	1	121412	1	28	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
CXXC1	30827	broad.mit.edu	37	18	47811382	47811382	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47811382T>A	ENST00000285106.6	-	7	1616	c.902A>T	c.(901-903)gAc>gTc	p.D301V	CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V|CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1			24					CAGGCCATGGTCATCAAAGGC	0.557000																								0							SO:0001583	missense			ENST00000285106.6	1	1	hg19	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900308	0.52227	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.27256	1.68;1.68	4.28	4.28	0.50868	.	0.249082	0.37715	N	0.001980	T	0.39462	0.1079	L	0.46157	1.445	0.80722	D	1	P;D;P;P	0.71674	0.808;0.998;0.808;0.808	B;D;B;B	0.63703	0.283;0.917;0.283;0.17	T	0.18650	-1.0330	10	0.56958	D	0.05	-8.5836	11.6576	0.51328	0.0:0.0:0.0:1.0	.	301;301;301;168	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	V	301	ENSP00000285106:D301V;ENSP00000390475:D301V	ENSP00000285106:D301V	D	-	2	0	CXXC1	46065380	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.789000	0.62446	1.718000	0.51419	0.443000	0.29094	GAC		TCGA-IB-7651-01A-11D-2154-08	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	1	0	1	78	291	0	86	1	1	37	144	0	86	2		0	0	0	0	0	2	1	1	76	285	0	85	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COLEC12	81035	broad.mit.edu	37	18	480749	480749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:480749C>T	ENST00000400256.3	-	2	223	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12			46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)			TCCTCCTCTGCGAAGTCGTCT	0.552000																								0							SO:0001583	missense			ENST00000400256.3	1	1	hg19	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984474	0.53934	.	.	ENSG00000158270	ENST00000400256	D	0.89196	-2.48	5.77	4.89	0.63831	.	0.336780	0.30547	N	0.009382	D	0.89550	0.6747	L	0.27053	0.805	0.40126	D	0.976664	D	0.76494	0.999	D	0.68621	0.959	D	0.89636	0.3859	10	0.44086	T	0.13	-8.4186	12.7129	0.57100	0.0:0.8346:0.1654:0.0	.	6	Q5KU26	COL12_HUMAN	T	6	ENSP00000383115:A6T	ENSP00000383115:A6T	A	-	1	0	COLEC12	470749	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	2.657000	0.46724	1.409000	0.46915	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1	1	0	1	67	268	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	1	67	262	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK4	5596	broad.mit.edu	37	18	48255600	48255600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255600C>T	ENST00000400384.2	+	6	2176	c.1140C>T	c.(1138-1140)cgC>cgT	p.R380R	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.R169R	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4			8		Colorectal(6;0.0297)			AGGTACAGCGCGACCCGCGCG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000400384.2	1	1	hg19	CCDS42437.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	1	0	0	33	338	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	33	336	0	50	2								-20.000000	1	0	120134	1	29	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.730000	1.000000	1.000000	0.956049	0.990000	1	8.700000e-01	1
ME2	4200	broad.mit.edu	37	18	48446897	48446897	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48446897A>G	ENST00000321341.5	+	8	1078	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial			23		Colorectal(6;0.0273)|all_epithelial(6;0.118)			TTGAGAAAGTACCGAGAAAAA	0.333000																								0							SO:0001583	missense			ENST00000321341.5	1	1	hg19	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243374	0.79912	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.56941	0.43;0.43	5.75	5.75	0.90469	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89158	0.3528	10	0.87932	D	0	-16.0466	15.046	0.71827	1.0:0.0:0.0:0.0	.	269;269	Q9BWL6;P23368	.;MAOM_HUMAN	C	269	ENSP00000321070:Y269C;ENSP00000372384:Y269C	ENSP00000321070:Y269C	Y	+	2	0	ME2	46700895	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	9.315000	0.96313	2.202000	0.70862	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	1	0	1	52	158	0	45	1	1	26	108	0	45	2		0	0	0	0	0	2	1	1	51	156	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ME2	4200	broad.mit.edu	37	18	48447034	48447034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447034C>T	ENST00000321341.5	+	9	1120	c.848C>T	c.(847-849)aCa>aTa	p.T283I	ME2_ENST00000382927.3_Missense_Mutation_p.T283I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial			23		Colorectal(6;0.0273)|all_epithelial(6;0.118)			CTTACAGGGACAGCTGCAGTA	0.348000																								0							SO:0001583	missense			ENST00000321341.5	1	1	hg19	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809554	0.70797	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.64085	-0.08;-0.08	5.73	5.73	0.89815	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89641	0.3862	10	0.87932	D	0	-26.8303	18.6849	0.91559	0.0:1.0:0.0:0.0	.	283;283	Q9BWL6;P23368	.;MAOM_HUMAN	I	283	ENSP00000321070:T283I;ENSP00000372384:T283I	ENSP00000321070:T283I	T	+	2	0	ME2	46701032	1.000000	0.71417	0.991000	0.47740	0.416000	0.31233	7.791000	0.85805	2.719000	0.93026	0.637000	0.83480	ACA		TCGA-IB-7651-01A-11D-2154-08	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	1	0	0	71	263	0	77	1	1	35	106	0	77	2		0	0	0	0	0	2	1	1	71	258	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMAD4	4089	broad.mit.edu	37	18	48604665	48604665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48604665G>A	ENST00000342988.3	+	12	2025	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.R496H(2)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GATGACCTTCGTCGCTTATGC	0.468000																								40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538817	0.85917	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98862	-5.19;-5.19	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.049689	0.85682	D	0.000000	D	0.99124	0.9698	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	D	0.99813	1.1042	10	0.72032	D	0.01	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	496	Q13485	SMAD4_HUMAN	H	496	ENSP00000341551:R496H;ENSP00000381452:R496H	ENSP00000341551:R496H	R	+	2	0	SMAD4	46858663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.586000	0.98226	2.843000	0.97960	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	92	298	0	65	1	1	21	108	0	65	2	1	1	237	976	1	1179	6	1	1	91	291	0	65	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCC	1630	broad.mit.edu	37	18	50278519	50278519	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50278519G>A	ENST00000442544.2	+	2	803	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor			148		all_cancers(7;0.11)|all_epithelial(6;0.00126)			CGACTGCTCCGCGGAGTCCGA	0.507000																								0							SO:0001583	missense			ENST00000442544.2	1	1	hg19	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851659	0.71719	.	.	ENSG00000187323	ENST00000442544	T	0.15603	2.41	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	T	0.45760	-0.9239	10	0.72032	D	0.01	.	18.5252	0.90969	0.0:0.0:1.0:0.0	.	63	P43146	DCC_HUMAN	T	63	ENSP00000389140:A63T	ENSP00000389140:A63T	A	+	1	0	DCC	48532517	1.000000	0.71417	0.850000	0.33497	0.146000	0.21551	4.507000	0.60434	2.676000	0.91093	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	1	0	1	42	210	0	36	0	7.736365e-02	0	3	0	36	2		0	0	0	0	0	2	1	1	43	206	0	36	2								-20.000000	1	1	121412	1	29	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DCC	1630	broad.mit.edu	37	18	50592518	50592518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50592518C>A	ENST00000442544.2	+	7	1859	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	DCC_ENST00000412726.1_Missense_Mutation_p.L263I|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.L70I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor			148		all_cancers(7;0.11)|all_epithelial(6;0.00126)			CAGTGCACAGCTCATTGTCCC	0.428000																								0							SO:0001583	missense			ENST00000442544.2	1	1	hg19	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238434	0.39598	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.89746	-2.56;-2.56	5.01	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.92835	0.7721	M	0.66378	2.025	0.44562	D	0.997522	P;P;P	0.46220	0.584;0.874;0.844	P;P;D	0.68621	0.744;0.833;0.959	D	0.92639	0.6123	10	0.59425	D	0.04	.	12.1051	0.53807	0.0:0.9141:0.0:0.0859	.	263;263;415	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	415;348;263	ENSP00000389140:L415I;ENSP00000397322:L263I	ENSP00000304146:L348I	L	+	1	0	DCC	48846516	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.402000	0.59722	2.497000	0.84241	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	1	0	0	91	311	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1	89	307	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBD2	8932	broad.mit.edu	37	18	51686244	51686244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686244C>T	ENST00000256429.3	-	6	1367	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2			8					CAATTTCTTGCGTACTTGCTG	0.403000																								0							SO:0001583	missense			ENST00000256429.3	1	1	hg19	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483729	0.84854	.	.	ENSG00000134046	ENST00000256429	D	0.99567	-6.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.98021	1.0371	10	0.87932	D	0	-11.7965	18.7698	0.91887	0.0:1.0:0.0:0.0	.	380	Q9UBB5	MBD2_HUMAN	H	380	ENSP00000256429:R380H	ENSP00000256429:R380H	R	-	2	0	MBD2	49940242	1.000000	0.71417	0.188000	0.23233	0.464000	0.32679	7.456000	0.80751	2.724000	0.93272	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	1	0	1	53	344	0	70	1	1	21	470	0	70	2		0	0	0	0	0	2	1	1	53	333	0	69	2								-19.998170	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
MBD2	8932	broad.mit.edu	37	18	51686260	51686260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686260G>A	ENST00000256429.3	-	6	1351	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2			8					TGCTGTACTCGCTCTTCCTGT	0.398000																								0							SO:0001587	stop_gained			ENST00000256429.3	0	1	hg19	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	G	39	7.661500	0.98419	.	.	ENSG00000134046	ENST00000256429	.	.	.	5.77	5.77	0.91146	.	0.065090	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4375	13.7042	0.62627	0.0:0.0:0.8457:0.1543	.	.	.	.	X	375	.	ENSP00000256429:R375X	R	-	1	2	MBD2	49940258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.862000	0.48388	2.724000	0.93272	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	1	0	0	39	262	0	59	1	1	30	486	0	59	2		0	0	0	0	0	2	1	1	39	254	0	59	2								-3.222241	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999726	0.990000	1	9.900000e-01	1
MBD2	8932	broad.mit.edu	37	18	51715256	51715256	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51715256T>G	ENST00000256429.3	-	3	1056	c.828A>C	c.(826-828)gaA>gaC	p.E276D		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2			8					GACGTGGCTGTTCATTCATTC	0.333000																								0							SO:0001583	missense			ENST00000256429.3	1	1	hg19	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	T	9.447	1.089478	0.20390	.	.	ENSG00000134046	ENST00000256429	D	0.98666	-5.06	5.39	1.64	0.23874	.	0.219657	0.37715	N	0.001979	D	0.92815	0.7715	N	0.03324	-0.35	0.80722	D	1	B	0.09022	0.002	B	0.17722	0.019	D	0.84547	0.0642	10	0.25106	T	0.35	-8.3278	8.2329	0.31608	0.0:0.2511:0.0:0.7488	.	276	Q9UBB5	MBD2_HUMAN	D	276	ENSP00000256429:E276D	ENSP00000256429:E276D	E	-	3	2	MBD2	49969254	0.984000	0.35163	0.999000	0.59377	0.998000	0.95712	0.065000	0.14466	0.037000	0.15575	0.460000	0.39030	GAA		TCGA-IB-7651-01A-11D-2154-08	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	1	0	1	138	669	0	172	1	1	31	512	0	172	2		0	0	0	0	0	2	1	1	136	659	0	169	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBD2	8932	broad.mit.edu	37	18	51750412	51750412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51750412C>T	ENST00000256429.3	-	1	746	c.518G>A	c.(517-519)gGc>gAc	p.G173D	SNORA37_ENST00000384504.1_RNA|MBD2_ENST00000398398.2_Missense_Mutation_p.G173D|MBD2_ENST00000583046.1_Missense_Mutation_p.G173D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2			8					ATCGCTCTTGCCAGCACTTAG	0.667000																								0							SO:0001583	missense			ENST00000256429.3	1	1	hg19	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349590	0.41599	.	.	ENSG00000134046	ENST00000256429;ENST00000398398	D;D	0.99470	-5.96;-5.96	4.57	3.68	0.42216	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.074158	0.52532	N	0.000065	D	0.99444	0.9803	M	0.85041	2.73	0.52099	D	0.999944	D;D	0.89917	0.988;1.0	P;D	0.97110	0.85;1.0	D	0.98264	1.0500	10	0.87932	D	0	-12.6095	11.9532	0.52966	0.0:0.9096:0.0:0.0904	.	173;173	Q9UBB5-3;Q9UBB5	.;MBD2_HUMAN	D	173	ENSP00000256429:G173D;ENSP00000381435:G173D	ENSP00000256429:G173D	G	-	2	0	MBD2	50004410	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.193000	0.77780	2.074000	0.62210	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	1	0	0	13	141	0	37	1	9.999883e-01	10	235	0	37	2		0	0	0	0	0	2	1	9.994914e-01	12	136	0	35	2								-18.236070	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.980000	0.560000	1.000000	1.000000	0.906780	0.980000	1	7.500000e-01	1
POLI	11201	broad.mit.edu	37	18	51807102	51807102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51807102C>T	ENST00000579534.1	+	5	768	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	POLI_ENST00000406285.3_Intron|POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000579434.1_Missense_Mutation_p.R106W	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	p.R184W(1)		26					AGCAGAGATGCGGGAAGCCAT	0.413000								DNA polymerases (catalytic subunits)																1	Substitution - Missense(1)						SO:0001583	missense			ENST00000579534.1	1	1	hg19	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256370	0.39896	.	.	ENSG00000101751	ENST00000217800	.	.	.	5.72	3.66	0.41972	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89414	0.3705	9	0.87932	D	0	-12.2842	11.161	0.48516	0.4562:0.5438:0.0:0.0	.	209	Q9UNA4	POLI_HUMAN	W	209	.	ENSP00000217800:R209W	R	+	1	2	POLI	50061100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.595000	0.54016	1.542000	0.49330	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	1	0	1	144	652	0	172	1	9.991771e-01	5	43	0	172	2		0	0	0	0	0	2	1	1	144	637	0	171	2								-20.000000	1	1	121412	3	37	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STARD6	147323	broad.mit.edu	37	18	51851195	51851195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851195C>T	ENST00000581310.1	-	9	903	c.530G>A	c.(529-531)gGa>gAa	p.G177E	STARD6_ENST00000580990.2_Missense_Mutation_p.G53E|STARD6_ENST00000307844.3_Missense_Mutation_p.G177E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6			8					GGACAATTTTCCTCTCATTTC	0.338000																								0							SO:0001583	missense			ENST00000581310.1	1	1	hg19	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153918	0.38021	.	.	ENSG00000174448	ENST00000307844	T	0.81415	-1.49	5.53	5.53	0.82687	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000003	D	0.90041	0.6890	M	0.83118	2.625	0.45747	D	0.998645	D	0.89917	1.0	D	0.97110	1.0	D	0.91181	0.4976	10	0.87932	D	0	.	14.9523	0.71083	0.0:1.0:0.0:0.0	.	177	P59095	STAR6_HUMAN	E	177	ENSP00000310814:G177E	ENSP00000310814:G177E	G	-	2	0	STARD6	50105193	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.665000	0.46791	2.586000	0.87340	0.411000	0.27672	GGA		TCGA-IB-7651-01A-11D-2154-08	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	0	0	1	56	259	0	39	1	1.516607e-01	2	2	0	39	2		0	0	0	0	0	2	1	1	55	257	0	39	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STARD6	147323	broad.mit.edu	37	18	51851233	51851233	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851233A>G	ENST00000581310.1	-	9	865	c.492T>C	c.(490-492)taT>taC	p.Y164Y	STARD6_ENST00000580990.2_Silent_p.Y40Y|STARD6_ENST00000307844.3_Silent_p.Y164Y			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6			8					CTAGTTTGGAATATGCTGGGT	0.333000																								0							SO:0001819	synonymous_variant			ENST00000581310.1	1	1	hg19	CCDS11955.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	1	0	1	47	230	0	39	1	2.077518e-01	4	1	0	39	2		0	0	0	0	0	2	1	1	46	225	0	38	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C18orf54	162681	broad.mit.edu	37	18	51889266	51889266	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51889266T>C	ENST00000300091.5	+	4	1047	c.715T>C	c.(715-717)Tca>Cca	p.S239P	C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P|C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54			15					AGCAGACAGATCATGGGAAAA	0.343000																								0							SO:0001583	missense			ENST00000300091.5	1	1	hg19	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.339833	0.24339	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.48522	0.81;0.81	5.12	3.91	0.45181	.	0.077624	0.53938	D	0.000060	T	0.59362	0.2188	L	0.57536	1.79	0.38418	D	0.946099	P;D	0.61080	0.717;0.989	B;D	0.63957	0.352;0.92	T	0.61888	-0.6970	10	0.54805	T	0.06	-1.4013	9.9255	0.41489	0.1578:0.0:0.0:0.8422	.	400;239	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	P	239;400	ENSP00000300091:S239P;ENSP00000372368:S400P	ENSP00000300091:S239P	S	+	1	0	C18orf54	50143264	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.740000	0.55082	0.747000	0.32809	0.402000	0.26972	TCA		TCGA-IB-7651-01A-11D-2154-08	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	1	0	1	48	228	0	67	0	5.448709e-01	0	10	0	67	2		0	0	0	0	0	2	1	1	48	223	0	66	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C18orf54	162681	broad.mit.edu	37	18	51898889	51898889	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51898889A>G	ENST00000300091.5	+	6	1229	c.897A>G	c.(895-897)caA>caG	p.Q299Q	C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Silent_p.Q78Q|C18orf54_ENST00000382911.4_Silent_p.Q460Q	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54			15					CCCTGAAACAAATGTTATTTA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000300091.5	1	1	hg19	CCDS11956.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	1	0	0	21	466	0	118	0	6.053151e-02	0	9	0	118	2		0	0	0	0	0	2	1	9.999973e-01	20	460	0	116	2								-19.968190	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.500000	0.320000	0.730000	0.510000	0.521629	0.500000	0	4.000000e-01	6.300000e-01
TCF4	6925	broad.mit.edu	37	18	52901874	52901874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:52901874C>A	ENST00000356073.4	-	16	2002	c.1391G>T	c.(1390-1392)aGc>aTc	p.S464I	TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000354452.3_Missense_Mutation_p.S464I	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4			41					AAGAGAATGGCTGCCTCTCAG	0.597000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000356073.4	1	1	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177483	0.78564	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.5	5.5	0.81552	.	0.044173	0.85682	D	0.000000	T	0.70902	0.3277	L	0.55213	1.73	0.53688	D	0.999972	P;D;P;D;B;P;P;P;P	0.61080	0.69;0.98;0.887;0.989;0.072;0.713;0.713;0.936;0.744	P;P;P;P;B;B;P;B;B	0.61201	0.536;0.844;0.474;0.885;0.015;0.434;0.467;0.367;0.272	T	0.72340	-0.4323	10	0.72032	D	0.01	-8.8053	18.543	0.91037	0.0:1.0:0.0:0.0	.	440;464;304;566;464;422;393;304;461	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	I	464;304;464;422;440;440;393;334;566	ENSP00000346440:S464I;ENSP00000409447:S304I;ENSP00000348374:S464I;ENSP00000439656:S422I;ENSP00000445202:S440I;ENSP00000440731:S440I;ENSP00000441562:S393I;ENSP00000439827:S334I;ENSP00000381382:S566I	ENSP00000346440:S464I	S	-	2	0	TCF4	51052872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.770000	0.55310	2.758000	0.94735	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	1	0	1	82	454	0	120	0	9.999996e-01	0	117	0	120	2		0	0	0	0	0	2	1	1	80	442	0	120	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF4	6925	broad.mit.edu	37	18	53018198	53018198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53018198G>T	ENST00000356073.4	-	7	1017	c.406C>A	c.(406-408)Cca>Aca	p.P136T	TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000354452.3_Missense_Mutation_p.P136T	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4			41					AGGGTTCCTGGGTTGCCCATA	0.453000																								0							SO:0001583	missense			ENST00000356073.4	1	1	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271410	0.40194	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.57	5.57	0.84162	.	0.151693	0.46145	D	0.000317	T	0.56337	0.1978	L	0.39245	1.2	0.32176	N	0.58106	B;B;B;B;B;B;B	0.25850	0.058;0.0;0.058;0.001;0.019;0.136;0.136	B;B;B;B;B;B;B	0.30782	0.076;0.002;0.102;0.0;0.015;0.076;0.12	T	0.65541	-0.6143	10	0.72032	D	0.01	-26.7506	13.6319	0.62200	0.0:0.0:0.8448:0.1552	.	112;136;112;238;136;94;65	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	T	136;136;94;112;112;65;6;238	ENSP00000346440:P136T;ENSP00000348374:P136T;ENSP00000439656:P94T;ENSP00000445202:P112T;ENSP00000440731:P112T;ENSP00000441562:P65T;ENSP00000439827:P6T;ENSP00000381382:P238T	ENSP00000346440:P136T	P	-	1	0	TCF4	51169196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.781000	0.95711	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	1	0	1	75	378	0	102	0	9.995978e-01	0	60	0	102	2		0	0	0	0	0	2	1	1	74	370	0	102	2								-3.236942	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF4	6925	broad.mit.edu	37	18	53303063	53303063	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53303063A>C	ENST00000398339.1	-	1	122	c.66T>G	c.(64-66)atT>atG	p.I22M		NM_001243226.1	NP_001230155.1	P15884	ITF2_HUMAN	transcription factor 4			41					AATTTGTCAAAATGATGAAGA	0.418000																								0							SO:0001583	missense			ENST00000398339.1	0	1	hg19	CCDS58631.1	.	.	.	.	.	.	.	.	.	.	A	8.094	0.775199	0.16051	.	.	ENSG00000196628	ENST00000398339	T	0.33438	1.41	2.13	-2.82	0.05787	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.31392	-0.9945	8	0.87932	D	0	.	0.3337	0.00323	0.3168:0.2048:0.2773:0.2011	.	22	E9PH57	.	M	22	ENSP00000381382:I22M	ENSP00000381382:I22M	I	-	3	3	TCF4	51454061	0.935000	0.31712	0.000000	0.03702	0.116000	0.19942	0.087000	0.14958	-0.617000	0.05664	-0.672000	0.03802	ATT		TCGA-IB-7651-01A-11D-2154-08	TCF4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256013.1	0	0	0	4	22	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	8.863247e-01	4	21	0	8	2								-10.603700	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.560000	1.000000	1.000000	0.958309	0.990000	1	9.400000e-01	1
EPB41L3	23136	broad.mit.edu	37	18	5415823	5415823	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5415823C>A	ENST00000341928.2	-	13	2401	c.2061G>T	c.(2059-2061)gaG>gaT	p.E687D	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3			105					ACACCTCTTCCTCTGAACTGT	0.567000																								0							SO:0001583	missense			ENST00000341928.2	1	1	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174364	0.57692	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82167	-1.58;-1.58	5.65	5.65	0.86999	.	0.356014	0.28889	N	0.013812	T	0.71187	0.3310	N	0.14661	0.345	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.66056	-0.6018	10	0.36615	T	0.2	.	14.5656	0.68173	0.1461:0.8539:0.0:0.0	.	687	Q9Y2J2	E41L3_HUMAN	D	687	ENSP00000343158:E687D;ENSP00000341138:E687D	ENSP00000343158:E687D	E	-	3	2	EPB41L3	5405823	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.704000	0.61831	2.655000	0.90218	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	1	0	1	70	219	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	68	212	0	68	2								-4.524171	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNL1	9352	broad.mit.edu	37	18	54281785	54281785	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54281785C>T	ENST00000217515.6	-	6	809	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q|TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1			4					ATCCATAGATCGGGGTAGGTT	0.348000																								0							SO:0001583	missense			ENST00000217515.6	1	1	hg19	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670429	0.67814	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.16897	2.31	5.61	5.61	0.85477	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.062472	0.64402	D	0.000003	T	0.21801	0.0525	L	0.51853	1.615	0.80722	D	1	P;P	0.49307	0.575;0.922	B;B	0.43916	0.162;0.436	T	0.01725	-1.1287	10	0.20046	T	0.44	.	19.2387	0.93873	0.0:1.0:0.0:0.0	.	202;202	B2R960;O43396	.;TXNL1_HUMAN	Q	202;79	ENSP00000217515:R202Q	ENSP00000217515:R202Q	R	-	2	0	TXNL1	52432783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.636000	0.67848	2.621000	0.88768	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2	1	0	1	36	191	0	39	1	1	151	393	0	39	2		0	0	0	0	0	2	1	1	36	190	0	39	2								-19.267500	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
EPB41L3	23136	broad.mit.edu	37	18	5428405	5428405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5428405G>A	ENST00000341928.2	-	9	1312	c.972C>T	c.(970-972)cgC>cgT	p.R324R	EPB41L3_ENST00000540638.2_Silent_p.R324R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.R324R|EPB41L3_ENST00000342933.3_Silent_p.R324R|EPB41L3_ENST00000400111.3_Silent_p.R324R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3			105					GCAGCCGGTCGCGATATATCA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000341928.2	1	1	hg19	CCDS11838.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	0	0	0	25	758	0	145	0	6.729609e-01	0	71	0	145	2		0	0	0	0	0	2	1	9.999998e-01	25	745	0	145	2								-3.060706	1	1	121412	1	34	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.370000	0.240000	0.530000	0.370000	0.385525	0.370000	0	3.000000e-01	4.600000e-01
WDR7	23335	broad.mit.edu	37	18	54385226	54385226	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54385226C>T	ENST00000254442.3	+	13	1821	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	WDR7_ENST00000357574.3_Missense_Mutation_p.A537V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7			78					TGCTCTGTAGCCAGTGACCAC	0.363000																								0							SO:0001583	missense			ENST00000254442.3	1	1	hg19	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806809	0.90623	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.69306	-0.39;-0.37	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.76002	2.32	0.80722	D	1	P;P	0.44946	0.846;0.813	B;B	0.43783	0.431;0.357	T	0.75508	-0.3293	10	0.72032	D	0.01	.	14.7507	0.69522	0.0:0.8555:0.1445:0.0	.	537;537	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	537	ENSP00000254442:A537V;ENSP00000350187:A537V	ENSP00000254442:A537V	A	+	2	0	WDR7	52536224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.909000	0.69923	2.632000	0.89209	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1	1	0	1	107	487	0	103	1	9.933012e-01	8	29	0	103	2		0	0	0	0	0	2	1	1	104	476	0	102	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR7	23335	broad.mit.edu	37	18	54423953	54423953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54423953C>T	ENST00000254442.3	+	15	2340	c.2129C>T	c.(2128-2130)cCg>cTg	p.P710L	WDR7_ENST00000357574.3_Missense_Mutation_p.P710L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7			78					GCCTCTAGGCCGAATACTGCT	0.433000																								0							SO:0001583	missense			ENST00000254442.3	1	1	hg19	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	9.215	1.031908	0.19590	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.2	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	N	0.03608	-0.345	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.85130	0.861;0.997	T	0.69815	-0.5043	10	0.28530	T	0.3	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	710;710	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	710	ENSP00000254442:P710L;ENSP00000350187:P710L	ENSP00000254442:P710L	P	+	2	0	WDR7	52574951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.640000	0.83355	2.826000	0.97356	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1	0	0	0	18	511	0	96	0	3.170900e-01	0	32	0	96	2		0	0	0	0	0	2	1	9.999787e-01	18	500	0	96	2								-2.784089	1	1	121412	2	32	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.400000	0.240000	0.600000	0.390000	0.415211	0.400000	0	3.100000e-01	5.000000e-01
WDR7	23335	broad.mit.edu	37	18	54547231	54547231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54547231C>T	ENST00000254442.3	+	21	3572	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7			78					CGAGGAAAGACGGAAGCAAGC	0.378000																								0							SO:0001583	missense			ENST00000254442.3	1	1	hg19	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742449	0.69418	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.73575	-0.76;2.16	5.37	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	L	0.60455	1.87	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.83560	0.0106	10	0.87932	D	0	.	13.5355	0.61644	0.5367:0.4633:0.0:0.0	.	1088;1121	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	1121;1088;446;1088	ENSP00000254442:R1121W;ENSP00000350187:R1088W	ENSP00000254442:R1121W	R	+	1	2	WDR7	52698229	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	1.987000	0.40687	0.655000	0.30866	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1	1	0	1	52	282	0	63	1	9.938204e-01	5	40	0	63	2		0	0	0	0	0	2	1	1	50	278	0	62	2								-19.999990	1	1	121412	2	36	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ONECUT2	9480	broad.mit.edu	37	18	55103370	55103370	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55103370G>T	ENST00000491143.2	+	1	454	c.422G>T	c.(421-423)gGc>gTc	p.G141V	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2			15		Colorectal(73;0.234)			TCTCCGCCTGGCATGGGCATG	0.657000																								0							SO:0001583	missense			ENST00000491143.2	1	1	hg19	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265483	0.59431	0.0	1.16E-4	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.34	2.34	0.29019	.	0.000000	0.48286	U	0.000194	T	0.75568	0.3867	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78107	-0.2333	9	0.72032	D	0.01	.	11.3876	0.49796	0.0:0.0:1.0:0.0	.	141	O95948	ONEC2_HUMAN	V	122;141	.	ENSP00000262095:G141V	G	+	2	0	ONECUT2	53254368	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	8.680000	0.91225	1.133000	0.42147	0.305000	0.20034	GGC		TCGA-IB-7651-01A-11D-2154-08	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3	1	0	1	26	148	0	21	1	9.988758e-01	32	32	0	21	2		0	0	0	0	0	2	1	1	26	146	0	19	2								-20.000000	1	1	121348	1	28	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999764	0.990000	1	9.900000e-01	1
ATP8B1	5205	broad.mit.edu	37	18	55315895	55315895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55315895C>T	ENST00000283684.4	-	27	3580	c.3581G>A	c.(3580-3582)cGg>cAg	p.R1194Q	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R1194Q			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1			53		Colorectal(73;0.229)			CACCTGCTGCCGTCGCTGCCA	0.652000																								0							SO:0001583	missense			ENST00000283684.4	0	1	hg19	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258346	0.59321	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.39229	1.09;1.09	5.27	5.27	0.74061	.	0.061324	0.64402	D	0.000004	T	0.42337	0.1198	L	0.58302	1.8	0.58432	D	0.999994	B	0.27498	0.18	B	0.23150	0.044	T	0.26849	-1.0091	10	0.33940	T	0.23	.	18.4925	0.90853	0.0:1.0:0.0:0.0	.	1194	O43520	AT8B1_HUMAN	Q	1194	ENSP00000283684:R1194Q;ENSP00000445359:R1194Q	ENSP00000283684:R1194Q	R	-	2	0	ATP8B1	53466893	0.959000	0.32827	0.824000	0.32777	0.497000	0.33675	1.654000	0.37334	2.456000	0.83038	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	1	0	0	17	61	0	8	1	9.999397e-01	21	46	0	8	2		0	0	0	0	0	2	1	9.999797e-01	17	59	0	8	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999913	0.990000	1	9.900000e-01	1
ATP8B1	5205	broad.mit.edu	37	18	55362414	55362414	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55362414A>G	ENST00000283684.4	-	9	928	c.929T>C	c.(928-930)gTc>gCc	p.V310A	ATP8B1_ENST00000589147.1_5'Flank|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.V310A			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1			53		Colorectal(73;0.229)			TGCAAAAATGACTAAGCCGTG	0.388000																								0							SO:0001583	missense			ENST00000283684.4	1	1	hg19	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690660	0.68271	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.95342	-3.68;-3.68	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121704	0.53938	D	0.000042	D	0.93184	0.7829	L	0.55834	1.745	0.80722	D	1	P	0.40000	0.698	B	0.41174	0.349	D	0.93818	0.7116	10	0.87932	D	0	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	310	O43520	AT8B1_HUMAN	A	310	ENSP00000283684:V310A;ENSP00000445359:V310A	ENSP00000283684:V310A	V	-	2	0	ATP8B1	53513412	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.100000	0.94213	2.025000	0.59659	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	1	0	1	54	221	0	59	1	9.999992e-01	27	62	0	59	2		0	0	0	0	0	2	1	1	53	216	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP8B1	5205	broad.mit.edu	37	18	55365052	55365052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55365052C>T	ENST00000283684.4	-	6	601	c.602G>A	c.(601-603)cGt>cAt	p.R201H	ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R201H			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1			53		Colorectal(73;0.229)			TTTTTTCAGACGAATGACGTC	0.398000																								0							SO:0001583	missense			ENST00000283684.4	1	1	hg19	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267877	0.95399	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.90504	-2.68;-2.68	6.04	6.04	0.98038	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94613	0.7806	10	0.66056	D	0.02	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	201	O43520	AT8B1_HUMAN	H	201	ENSP00000283684:R201H;ENSP00000445359:R201H	ENSP00000283684:R201H	R	-	2	0	ATP8B1	53516050	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.979000	0.63806	2.873000	0.98535	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	1	0	1	43	160	0	28	1	9.999873e-01	20	48	0	28	2		0	0	0	0	0	2	1	1	42	154	0	28	2								-20.000000	1	1	121412	3	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEDD4L	23327	broad.mit.edu	37	18	55998025	55998025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55998025C>T	ENST00000400345.3	+	11	1152	c.869C>T	c.(868-870)gCt>gTt	p.A290V	NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.A169V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase			37					CTCGGTCTGGCTCTGCCCCCA	0.552000																								0							SO:0001583	missense			ENST00000400345.3	1	1	hg19	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300116	0.23650	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.33654	1.43;1.4;1.42;1.42;1.9;1.92;1.83;1.9;1.9;1.92	5.58	2.31	0.28768	.	1.280920	0.05285	N	0.520104	T	0.26919	0.0659	N	0.22421	0.69	0.25577	N	0.986832	B;B;B;B;B;B;B	0.18968	0.0;0.002;0.006;0.0;0.0;0.001;0.032	B;B;B;B;B;B;B	0.22152	0.001;0.006;0.009;0.001;0.002;0.002;0.038	T	0.26503	-1.0101	10	0.29301	T	0.29	.	8.0142	0.30372	0.1315:0.7125:0.0:0.1561	.	290;282;282;169;290;290;290	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	V	290;290;290;290;169;169;282;169;169;169	ENSP00000383199:A290V;ENSP00000372301:A290V;ENSP00000348847:A290V;ENSP00000256830:A290V;ENSP00000256832:A169V;ENSP00000411947:A169V;ENSP00000350569:A282V;ENSP00000393395:A169V;ENSP00000405440:A169V;ENSP00000389406:A169V	ENSP00000256830:A290V	A	+	2	0	NEDD4L	54149005	0.697000	0.27767	0.035000	0.18076	0.251000	0.25915	1.091000	0.30915	0.689000	0.31550	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1	1	0	1	25	127	0	41	1	9.970053e-01	9	41	0	41	2		0	0	0	0	0	2	1	9.999999e-01	22	124	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999909	0.990000	1	9.900000e-01	1
ALPK2	115701	broad.mit.edu	37	18	56184276	56184276	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56184276C>T	ENST00000361673.3	-	9	6017	c.5804G>A	c.(5803-5805)cGc>cAc	p.R1935H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2			84					CACTGTGCTGCGGAAGGCTTT	0.557000																								0							SO:0001583	missense			ENST00000361673.3	1	1	hg19	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873107	0.91664	.	.	ENSG00000198796	ENST00000361673	T	0.15372	2.43	5.75	5.75	0.90469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	T	0.41743	0.1172	L	0.56769	1.78	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.07271	-1.0781	10	0.59425	D	0.04	-17.7765	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1935	Q86TB3	ALPK2_HUMAN	H	1935	ENSP00000354991:R1935H	ENSP00000354991:R1935H	R	-	2	0	ALPK2	54335256	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.385000	0.79763	2.716000	0.92895	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	1	0	1	49	468	0	109	0	0	0	1	0	109	2		0	0	0	0	0	2	1	1	48	458	0	108	2								-3.221883	1	1	121412	1	28	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.830000	1.000000	1.000000	0.982922	0.990000	1	9.600000e-01	1
ALPK2	115701	broad.mit.edu	37	18	56204977	56204977	+	Silent	SNP	C	C	T	rs3809971	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56204977C>T	ENST00000361673.3	-	5	2655	c.2442G>A	c.(2440-2442)acG>acA	p.T814T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2			84					TATCAAAACACGTTCCTTGGT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000361673.3	1	0	hg19	CCDS11966.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	0	0	1	89	360	0	67	0	4.017621e-02	0	2	0	67	2		0	0	0	0	0	2	1	1	88	354	0	67	2								-0.432732	0	1	121408	56954	80	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPK2	115701	broad.mit.edu	37	18	56246527	56246527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56246527G>A	ENST00000361673.3	-	4	1694	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2			84					CTTCATCTCTGTCTCTCTTAC	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000361673.3	1	1	hg19	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943255	0.18281	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	3.35	-4.88	0.03113	.	2.060150	0.02265	N	0.067870	T	0.29423	0.0733	L	0.39898	1.24	0.09310	N	1	B	0.31256	0.316	B	0.26202	0.067	T	0.15607	-1.0431	10	0.56958	D	0.05	-0.0428	3.7053	0.08398	0.1041:0.1574:0.5208:0.2177	.	494	Q86TB3	ALPK2_HUMAN	I	494	ENSP00000354991:T494I	ENSP00000354991:T494I	T	-	2	0	ALPK2	54397507	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.096000	0.11059	-1.184000	0.02720	-0.181000	0.13052	ACA		TCGA-IB-7651-01A-11D-2154-08	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	1	0	1	135	536	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1	131	518	0	136	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MALT1	10892	broad.mit.edu	37	18	56348560	56348560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56348560G>A	ENST00000348428.3	+	2	626	c.368G>A	c.(367-369)aGc>aAc	p.S123N	MALT1_ENST00000345724.3_Missense_Mutation_p.S123N|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1			12					CAGCTTCTCAGCCCCCCAGGT	0.428000			T	BIRC3	MALT										Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0							SO:0001583	missense			ENST00000348428.3	1	1	hg19	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265601	0.23136	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.58940	0.3;0.3	6.03	2.81	0.32909	DEATH-like (2);	0.270585	0.47093	N	0.000243	T	0.39733	0.1089	L	0.29908	0.895	0.25731	N	0.985262	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.004	T	0.18681	-1.0329	10	0.18710	T	0.47	-7.9095	8.2378	0.31636	0.429:0.0:0.571:0.0	.	123;123	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	N	123	ENSP00000319279:S123N;ENSP00000304161:S123N	ENSP00000304161:S123N	S	+	2	0	MALT1	54499540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.116000	0.41930	0.632000	0.30432	0.557000	0.71058	AGC		TCGA-IB-7651-01A-11D-2154-08	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2	1	0	0	36	161	0	35	1	9.951200e-01	7	33	0	35	2		0	0	0	0	0	2	1	1	36	157	0	35	2								-2.449569	0	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF532	55205	broad.mit.edu	37	18	56585789	56585789	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56585789T>C	ENST00000336078.4	+	4	1046	c.270T>C	c.(268-270)caT>caC	p.H90H	ZNF532_ENST00000591230.1_Silent_p.H90H|ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000591083.1_Silent_p.H90H|ZNF532_ENST00000589288.1_Silent_p.H90H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532			52					ATGGCTTACATAATGGGTTTC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000336078.4	1	1	hg19	CCDS11969.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	1	0	1	42	188	0	52	1	1	18	107	0	52	2		0	0	0	0	0	2	1	1	40	184	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF532	55205	broad.mit.edu	37	18	56586899	56586899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56586899G>A	ENST00000336078.4	+	4	2156	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	ZNF532_ENST00000591230.1_Silent_p.T460T|ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000591083.1_Silent_p.T460T|ZNF532_ENST00000589288.1_Silent_p.T460T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532			52					CTGTGAAGACGGCAGGATCCC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000336078.4	0	1	hg19	CCDS11969.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	0	0	1	33	198	0	39	0	9.995584e-01	0	74	0	39	2		0	0	0	0	0	2	1	1	30	190	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999875	0.990000	1	9.900000e-01	1
ZNF532	55205	broad.mit.edu	37	18	56615358	56615358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56615358G>A	ENST00000336078.4	+	7	3541	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H	ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532			52					TTGCTGTATCGCCACTTTGAC	0.418000																								0							SO:0001583	missense			ENST00000336078.4	1	1	hg19	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883244	0.91740	.	.	ENSG00000074657	ENST00000336078	T	0.30981	1.51	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.294510	0.35262	N	0.003333	T	0.40448	0.1117	L	0.60067	1.865	0.34671	D	0.723747	D;D	0.67145	0.991;0.996	P;P	0.48270	0.511;0.572	T	0.49322	-0.8952	10	0.36615	T	0.2	-16.9644	18.7313	0.91736	0.0:0.0:1.0:0.0	.	922;922	B3KXW2;Q9HCE3	.;ZN532_HUMAN	H	922	ENSP00000338217:R922H	ENSP00000338217:R922H	R	+	2	0	ZNF532	54766338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.906000	0.75719	2.783000	0.95769	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	1	0	1	129	662	0	133	1	9.999999e-01	11	102	0	133	2		0	0	0	0	0	2	1	1	127	639	0	134	2								-20.000000	1	1	121412	1	30	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF532	55205	broad.mit.edu	37	18	56651207	56651207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56651207C>T	ENST00000336078.4	+	11	4191	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532			52					CTGAAAGGTCCCCAGTCCCAA	0.453000																								0							SO:0001583	missense			ENST00000336078.4	1	1	hg19	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493039	0.44352	.	.	ENSG00000074657	ENST00000336078	T	0.01495	4.83	5.84	5.84	0.93424	.	0.241087	0.42964	D	0.000630	T	0.02083	0.0065	L	0.38838	1.175	0.34340	D	0.688615	B;B	0.32939	0.063;0.391	B;B	0.28139	0.018;0.086	T	0.57142	-0.7862	10	0.24483	T	0.36	.	15.2524	0.73559	0.0:0.8599:0.1401:0.0	.	1139;1139	B3KXW2;Q9HCE3	.;ZN532_HUMAN	S	1139	ENSP00000338217:P1139S	ENSP00000338217:P1139S	P	+	1	0	ZNF532	54802187	0.737000	0.28175	0.991000	0.47740	0.270000	0.26580	1.743000	0.38258	2.769000	0.95229	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	1	0	1	53	297	0	69	1	9.999999e-01	17	123	0	69	2		0	0	0	0	0	2	1	1	51	288	0	69	2								-3.147523	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CPLX4	339302	broad.mit.edu	37	18	56964052	56964052	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56964052C>T	ENST00000299721.3	-	3	547	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	p.D121Y(1)		16		Colorectal(73;0.175)			AGAATAGAATCTTTATCTTCT	0.418000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000299721.3	1	1	hg19	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897524	0.72639	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.087184	0.85682	D	0.000000	T	0.68659	0.3025	L	0.52759	1.655	0.80722	D	1	B	0.20887	0.049	B	0.35240	0.198	T	0.62950	-0.6745	9	0.34782	T	0.22	0.2791	19.3422	0.94347	0.0:1.0:0.0:0.0	.	121	Q7Z7G2	CPLX4_HUMAN	N	121	.	ENSP00000299721:D121N	D	-	1	0	CPLX4	55115032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.723000	0.68492	2.653000	0.90120	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	1	0	1	40	185	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	36	184	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LMAN1	3998	broad.mit.edu	37	18	57014746	57014746	+	Splice_Site	SNP	G	G	A	rs41476148	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57014746G>A	ENST00000251047.5	-	7	1538	c.821C>T	c.(820-822)cCg>cTg	p.P274L	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1			16		Colorectal(73;0.0946)		Antihemophilic Factor(DB00025)	TAAAATTACCGGCTCTTTTCC	0.343000																								0							SO:0001630	splice_region_variant			ENST00000251047.5	1	0	hg19	CCDS11974.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.825	0.718537	0.15372	0.007036	1.16E-4	ENSG00000074695	ENST00000251047	T	0.57595	0.39	5.7	1.91	0.25777	.	0.508561	0.22770	N	0.055858	T	0.19046	0.0457	N	0.04508	-0.205	0.41827	D	0.990053	B	0.06786	0.001	B	0.01281	0.0	T	0.03403	-1.1040	10	0.21540	T	0.41	-3.5685	9.2241	0.37395	0.3669:0.0:0.6331:0.0	rs41476148	274	P49257	LMAN1_HUMAN	L	274	ENSP00000251047:P274L	ENSP00000251047:P274L	P	-	2	0	LMAN1	55165726	0.997000	0.39634	0.421000	0.26609	0.428000	0.31595	0.657000	0.24963	0.354000	0.24105	-0.142000	0.14014	CCG		TCGA-IB-7651-01A-11D-2154-08	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	1	0	1	13	55	0	15	1	1	74	430	0	15	2		0	0	0	0	0	2	1	9.996498e-01	13	53	0	15	2								-2.978297	1	0	121352	108	47	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999137	0.990000	1	9.900000e-01	1
CCBE1	147372	broad.mit.edu	37	18	57115222	57115222	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115222G>A	ENST00000439986.4	-	7	805	c.768C>T	c.(766-768)ggC>ggT	p.G256G	CCBE1_ENST00000398179.2_Missense_Mutation_p.A32V	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1			24		Colorectal(73;0.175)			CACCGGGAGGGCCCTGGCCCC	0.582000													NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											0							SO:0001819	synonymous_variant			ENST00000439986.4	1	1	hg19	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855409	0.32791	.	.	ENSG00000183287	ENST00000398179	D	0.84070	-1.8	5.62	2.72	0.32119	.	.	.	.	.	T	0.72471	0.3464	.	.	.	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.62886	-0.6759	8	0.66056	D	0.02	-24.2524	3.7746	0.08654	0.2623:0.0:0.5666:0.1711	.	32	Q6UXH8-2	.	V	32	ENSP00000381241:A32V	ENSP00000381241:A32V	A	-	2	0	CCBE1	55266202	0.996000	0.38824	1.000000	0.80357	0.688000	0.40055	0.196000	0.17176	0.746000	0.32786	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	0	0	1	103	465	0	89	0	1.550514e-01	0	4	0	89	2		0	0	0	0	0	2	1	1	102	455	0	89	2								-20.000000	1	0	121412	1	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCBE1	147372	broad.mit.edu	37	18	57115301	57115301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115301C>T	ENST00000439986.4	-	7	726	c.689G>A	c.(688-690)gGc>gAc	p.G230D	CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1			24		Colorectal(73;0.175)			GATATACTTGCCCAGGTCAGC	0.577000													NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											0							SO:0001583	missense			ENST00000439986.4	1	1	hg19	CCDS32838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672116|2.672116	0.47781|0.47781	.|.	.|.	ENSG00000183287|ENSG00000183287	ENST00000398179|ENST00000439986	T|T	0.33438|0.68479	1.41|-0.33	5.62|5.62	4.74|4.74	0.60224|0.60224	.|.	.|0.531492	.|0.21278	.|N	.|0.077192	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.57536|0.57536	1.79|1.79	0.21020|0.21020	N|N	0.999809|0.999809	P|P;P	0.40731|0.45531	0.728|0.666;0.86	B|B;P	0.41332|0.47075	0.354|0.194;0.536	T|T	0.64076|0.64076	-0.6492|-0.6492	9|10	0.87932|0.62326	D|D	0|0.03	-24.5082|-24.5082	11.0934|11.0934	0.48130|0.48130	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	6|230;39	Q6UXH8-2|Q6UXH8;Q6UXH8-3	.|CCBE1_HUMAN;.	T|D	6|230	ENSP00000381241:A6T|ENSP00000404464:G230D	ENSP00000381241:A6T|ENSP00000404464:G230D	A|G	-|-	1|2	0|0	CCBE1|CCBE1	55266281|55266281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	3.725000|3.725000	0.54970|0.54970	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	GCA|GGC		TCGA-IB-7651-01A-11D-2154-08	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	1	0	1	73	279	0	50	0	2.818010e-01	0	5	0	50	2		0	0	0	0	0	2	1	1	71	269	0	49	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MC4R	4160	broad.mit.edu	37	18	58038647	58038647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:58038647G>A	ENST00000299766.3	-	1	1354	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor			17		Colorectal(73;0.0946)			TCTCTTTGAAGGTTTTCCTCA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000299766.3	1	1	hg19	CCDS11976.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	1	0	1	84	383	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	83	380	0	87	2								-3.290499	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CETN1	1068	broad.mit.edu	37	18	580753	580753	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:580753C>T	ENST00000327228.3	+	1	387	c.345C>T	c.(343-345)gaC>gaT	p.D115D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1			25					TCTTTGATGACGATGAGACCG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000327228.3	1	1	hg19	CCDS11820.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	1	0	0	54	346	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	53	341	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
TMEM200C	645369	broad.mit.edu	37	18	5891977	5891977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5891977C>T	ENST00000581347.2	-	3	731	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C			12					CTTGGCTTTCCGCTTGCGCTT	0.612000																								0							SO:0001583	missense			ENST00000581347.2	1	1	hg19	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845131	0.91197	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.59436	1.845	0.44417	D	0.997337	D	0.89917	1.0	D	0.77557	0.99	T	0.79172	-0.1913	9	0.66056	D	0.02	-11.4275	18.2993	0.90158	0.0:1.0:0.0:0.0	.	29	A6NKL6	T200C_HUMAN	Q	29	.	ENSP00000372982:R29Q	R	-	2	0	TMEM200C	5881977	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.841000	0.62824	2.376000	0.81061	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	1	0	1	47	149	0	43	0	6.752950e-01	0	9	0	43	2		0	0	0	0	0	2	1	1	46	146	0	42	2								-4.432540	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH20	28316	broad.mit.edu	37	18	59217362	59217362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59217362C>T	ENST00000262717.4	+	11	2198	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	CDH20_ENST00000538374.1_Silent_p.D600D|CDH20_ENST00000536675.2_Silent_p.D600D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2			61		Colorectal(73;0.186)			GTGATGACGACGGCCACGTCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000262717.4	1	1	hg19	CCDS11977.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	1	0	1	55	230	0	50		0	0	0	0	50	2		0	0	0	0	1	2	1	1	54	227	0	50	2								-20.000000	1	1	121412	1	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH20	28316	broad.mit.edu	37	18	59221564	59221564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59221564C>T	ENST00000262717.4	+	12	2440	c.2042C>T	c.(2041-2043)gCg>gTg	p.A681V	CDH20_ENST00000538374.1_Missense_Mutation_p.A681V|CDH20_ENST00000536675.2_Missense_Mutation_p.A681V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2			61		Colorectal(73;0.186)			TTCGACATCGCGGCCATGTGG	0.667000																								0							SO:0001583	missense			ENST00000262717.4	1	1	hg19	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.085932	0.55861	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76186	-1.0;-1.0;-1.0	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.049067	0.85682	D	0.000000	T	0.69646	0.3134	L	0.39245	1.2	0.58432	D	0.999999	B	0.28291	0.206	B	0.27380	0.079	T	0.64188	-0.6466	10	0.36615	T	0.2	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	681	Q9HBT6	CAD20_HUMAN	V	681	ENSP00000444767:A681V;ENSP00000442226:A681V;ENSP00000262717:A681V	ENSP00000262717:A681V	A	+	2	0	CDH20	57372544	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	4.877000	0.63086	2.894000	0.99253	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	1	0	1	141	672	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	142	665	0	127	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF152	220441	broad.mit.edu	37	18	59483459	59483459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59483459C>T	ENST00000312828.3	-	2	1337	c.238G>A	c.(238-240)Gcc>Acc	p.A80T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152			17		Colorectal(73;0.186)			TGTGGAATGGCGATGACAGCC	0.637000																								0							SO:0001583	missense			ENST00000312828.3	1	1	hg19	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163620	0.57476	.	.	ENSG00000176641	ENST00000312828	D	0.83419	-1.72	4.97	4.97	0.65823	.	0.122835	0.53938	D	0.000044	T	0.69895	0.3162	N	0.12182	0.205	0.49213	D	0.999769	B	0.10296	0.003	B	0.04013	0.001	T	0.64462	-0.6402	10	0.13470	T	0.59	-3.2112	18.4187	0.90579	0.0:1.0:0.0:0.0	.	80	Q8N8N0	RN152_HUMAN	T	80	ENSP00000316628:A80T	ENSP00000316628:A80T	A	-	1	0	RNF152	57634439	0.999000	0.42202	0.997000	0.53966	0.898000	0.52572	4.107000	0.57811	2.600000	0.87896	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	1	0	0	49	294	0	37	0	7.506010e-01	0	18	0	37	2		0	0	0	0	0	2	1	1	49	290	0	37	2								-3.144245	1	1	121412	1	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
L3MBTL4	91133	broad.mit.edu	37	18	5969448	5969448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5969448G>A	ENST00000284898.6	-	18	1785	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)			39		Colorectal(10;0.0249)			ACGCCTGGAAGCAACTTGCAG	0.647000													Esophageal Squamous(41;748 902 17366 28959 43175)											0							SO:0001583	missense			ENST00000284898.6	1	1	hg19	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565267	0.86439	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.19394	2.15;2.15;2.15;2.16	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000019	T	0.47248	0.1435	M	0.76170	2.325	0.46954	D	0.99926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43065	-0.9414	10	0.59425	D	0.04	.	14.9777	0.71286	0.0:0.0:1.0:0.0	.	529;520	Q8NA19;F8W9S8	LMBL4_HUMAN;.	F	529;520;529;333	ENSP00000382976:L529F;ENSP00000318543:L520F;ENSP00000284898:L529F;ENSP00000444774:L333F	ENSP00000284898:L529F	L	-	1	0	L3MBTL4	5959448	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	6.371000	0.73119	2.586000	0.87340	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	1	0	0	44	404	0	83	0	5.304989e-02	0	4	0	83	2		0	0	0	0	0	2	1	1	43	399	0	80	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.850000	1.000000	1.000000	0.987297	0.990000	1	9.900000e-01	1
KIAA1468	57614	broad.mit.edu	37	18	59899598	59899598	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59899598A>G	ENST00000398130.2	+	10	1790	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.M520V|KIAA1468_ENST00000592479.1_3'UTR	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468			47		Colorectal(73;0.186)			AAAAAGCGTTATGTTAATGCT	0.393000																								0							SO:0001583	missense			ENST00000398130.2	1	1	hg19	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	A	2.814	-0.246424	0.05867	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.67523	-0.27;-0.27	5.57	5.57	0.84162	Armadillo-like helical (1);	0.116238	0.85682	D	0.000000	T	0.37999	0.1024	N	0.01352	-0.895	0.58432	D	0.999994	B;B;B	0.17268	0.007;0.021;0.003	B;B;B	0.10450	0.005;0.005;0.004	T	0.39860	-0.9593	9	.	.	.	-17.632	16.0172	0.80450	1.0:0.0:0.0:0.0	.	520;520;164	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	520	ENSP00000381198:M520V;ENSP00000256858:M520V	.	M	+	1	0	KIAA1468	58050578	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	6.863000	0.75489	2.239000	0.73571	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	1	0	1	53	199	0	71	1	9.961407e-01	9	26	0	71	2		0	0	0	0	0	2	1	1	53	195	0	70	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1468	57614	broad.mit.edu	37	18	59966089	59966089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59966089C>T	ENST00000398130.2	+	28	3758	c.3526C>T	c.(3526-3528)Caa>Taa	p.Q1176*	RP11-173A16.1_ENST00000591014.1_RNA|KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.Q1210*	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468			47		Colorectal(73;0.186)			CCAAGAGCCTCAAGGGTAAGA	0.294000																								0							SO:0001587	stop_gained			ENST00000398130.2	0	1	hg19	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	44	10.535140	0.99423	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.46	5.46	0.80206	.	0.109052	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.4767	19.6622	0.95877	0.0:1.0:0.0:0.0	.	.	.	.	X	1176;1210	.	.	Q	+	1	0	KIAA1468	58117069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.354000	0.79424	2.707000	0.92482	0.557000	0.71058	CAA		TCGA-IB-7651-01A-11D-2154-08	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	1	0	1	27	139	0	46	1	9.999991e-01	37	87	0	46	2		0	0	0	0	0	2	1	1	27	139	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999935	0.990000	1	9.900000e-01	1
TNFRSF11A	8792	broad.mit.edu	37	18	60025520	60025520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60025520C>T	ENST00000586569.1	+	5	505	c.467C>T	c.(466-468)gCa>gTa	p.A156V	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator			29		Colorectal(73;0.188)			CCTTGCCTTGCAGGCTACTTC	0.423000																								0							SO:0001583	missense			ENST00000586569.1	1	1	hg19	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	3.359	-0.130838	0.06753	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.61510	0.1	5.84	-11.6	0.00059	TNFR/CD27/30/40/95 cysteine-rich region (1);	3.105210	0.00797	N	0.001399	T	0.35451	0.0932	N	0.13371	0.34	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.08055	0.002;0.003	T	0.14200	-1.0481	9	.	.	.	6.3304	13.7445	0.62868	0.0772:0.6654:0.0783:0.1791	.	178;156	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	V	178;156	ENSP00000269485:A156V	.	A	+	2	0	TNFRSF11A	58176500	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.609000	0.05635	-2.601000	0.00451	-0.484000	0.04775	GCA		TCGA-IB-7651-01A-11D-2154-08	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2	1	0	1	96	469	0	149	1	9.978903e-01	19	28	0	149	2		0	0	0	0	0	2	1	1	93	449	0	147	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFRSF11A	8792	broad.mit.edu	37	18	60029018	60029018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60029018C>T	ENST00000586569.1	+	7	760	c.722C>T	c.(721-723)gCa>gTa	p.A241V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator			29		Colorectal(73;0.188)			AAAGGGAAAGCACTCACAGGT	0.418000																								0							SO:0001583	missense			ENST00000586569.1	1	1	hg19	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109338	0.20714	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.66	2.56	0.30785	.	0.809251	0.11152	N	0.594005	T	0.33614	0.0869	L	0.53249	1.67	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.25537	-1.0129	8	.	.	.	-0.9648	4.5426	0.12066	0.1507:0.566:0.0:0.2833	.	241	Q9Y6Q6	TNR11_HUMAN	V	241	.	.	A	+	2	0	TNFRSF11A	58179998	0.004000	0.15560	0.223000	0.23860	0.756000	0.42949	0.345000	0.19979	0.677000	0.31305	-0.136000	0.14681	GCA		TCGA-IB-7651-01A-11D-2154-08	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2	1	0	0	158	725	0	155	1	1	56	75	0	155	2		0	0	0	0	0	2	1	1	155	711	0	155	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLPP1	23239	broad.mit.edu	37	18	60563230	60563230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60563230A>C	ENST00000262719.5	+	6	2664	c.2430A>C	c.(2428-2430)aaA>aaC	p.K810N	PHLPP1_ENST00000400316.4_Missense_Mutation_p.K298N			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1			17					CTCACATTAAACATGTGGATC	0.398000																								0							SO:0001583	missense			ENST00000262719.5	0	1	hg19	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931076	0.73327	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26810	1.71;1.71	5.07	1.4	0.22301	.	.	.	.	.	T	0.33962	0.0881	L	0.50993	1.605	0.46011	D	0.998815	D	0.65815	0.995	P	0.56700	0.804	T	0.07790	-1.0754	9	0.62326	D	0.03	-17.1732	9.0123	0.36148	0.5768:0.0:0.4232:0.0	.	810	O60346	PHLP1_HUMAN	N	298;810	ENSP00000383170:K298N;ENSP00000262719:K810N	ENSP00000262719:K810N	K	+	3	2	PHLPP1	58714210	0.578000	0.26717	1.000000	0.80357	0.996000	0.88848	-0.019000	0.12546	0.420000	0.25954	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	0	0	0	25	118	0	21	1	9.887545e-01	12	25	0	21	2		0	0	0	0	0	2	1	9.999999e-01	25	117	0	21	2								-15.943890	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999955	0.990000	1	9.900000e-01	1
PHLPP1	23239	broad.mit.edu	37	18	60642662	60642662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60642662G>A	ENST00000262719.5	+	16	4022	c.3788G>A	c.(3787-3789)gGt>gAt	p.G1263D	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G751D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1			17					AAGCTTGGTGGTGCCGCTGTC	0.517000																								0							SO:0001583	missense			ENST00000262719.5	1	1	hg19	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352950	0.82132	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.09630	2.96;2.96	5.28	5.28	0.74379	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.29716	0.0742	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00270	-1.1860	9	0.30854	T	0.27	-13.5906	19.1036	0.93283	0.0:0.0:1.0:0.0	.	1263	O60346	PHLP1_HUMAN	D	751;1263	ENSP00000383170:G751D;ENSP00000262719:G1263D	ENSP00000262719:G1263D	G	+	2	0	PHLPP1	58793642	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.244000	0.65400	2.751000	0.94390	0.555000	0.69702	GGT		TCGA-IB-7651-01A-11D-2154-08	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	1	0	1	72	421	0	122	1	9.793058e-01	9	29	0	122	2	0	0	0	1	0	0	2	1	1	72	412	0	121	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLPP1	23239	broad.mit.edu	37	18	60645587	60645587	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60645587C>T	ENST00000262719.5	+	17	4311	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	PHLPP1_ENST00000400316.4_Silent_p.S847S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1			17					ACGTGCAGTCCGTGCTCCTGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000262719.5	1	1	hg19	CCDS45881.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	1	0	0	18	68	0	17	1	9.953043e-01	10	27	0	17	2		0	0	0	0	0	2	1	9.999908e-01	18	67	0	17	2								-20.000000	1	1	121194	17	41	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
PHLPP1	23239	broad.mit.edu	37	18	60646154	60646154	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60646154C>T	ENST00000262719.5	+	17	4878	c.4644C>T	c.(4642-4644)gaC>gaT	p.D1548D	PHLPP1_ENST00000400316.4_Silent_p.D1036D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1			17					TTGACAGTGACGATGAGGAGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000262719.5	1	1	hg19	CCDS45881.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	1	0	1	14	69	0	17	1	9.964486e-01	14	37	0	17	2		0	0	0	0	0	2	1	9.997968e-01	14	66	0	16	2								-19.999990	1	1	121038	2	30	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.998665	0.990000	1	9.900000e-01	1
KDSR	2531	broad.mit.edu	37	18	61018225	61018225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61018225C>T	ENST00000406396.3	-	6	896	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase			9					GACACAAACACGATCCTGCCC	0.547000																								0							SO:0001583	missense			ENST00000406396.3	1	1	hg19	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.489014	0.64074	.	.	ENSG00000119537	ENST00000406396	D	0.92149	-2.98	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.093753	0.64402	D	0.000001	D	0.92825	0.7718	M	0.88842	2.985	0.80722	D	1	P	0.45396	0.857	B	0.34138	0.176	D	0.93825	0.7122	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	169	Q06136	KDSR_HUMAN	M	169	ENSP00000385083:V169M	ENSP00000385083:V169M	V	-	1	0	KDSR	59169205	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	3.970000	0.56824	2.824000	0.97209	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2	1	0	1	106	519	0	121	1	1	98	268	0	121	2		0	0	0	0	0	2	1	1	105	508	0	117	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS4B	9525	broad.mit.edu	37	18	61058275	61058275	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61058275G>T	ENST00000238497.5	-	11	1471	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)			13					ATTGACTGTAGGTTTTGTGTT	0.353000																								0							SO:0001583	missense			ENST00000238497.5	1	1	hg19	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007448	0.93287	.	.	ENSG00000119541	ENST00000238497	D	0.95377	-3.69	5.78	5.78	0.91487	Vps4 oligomerisation, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	-6.5659	20.0203	0.97492	0.0:0.0:1.0:0.0	.	423	O75351	VPS4B_HUMAN	H	423	ENSP00000238497:P423H	ENSP00000238497:P423H	P	-	2	0	VPS4B	59209255	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	9.835000	0.99442	2.730000	0.93505	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	1	0	1	34	166	0	38	1	1	53	122	0	38	2		0	0	0	0	0	2	1	1	34	164	0	38	2								-2.819071	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
SERPINB5	5268	broad.mit.edu	37	18	61154290	61154290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61154290G>A	ENST00000382771.4	+	3	572	c.280G>A	c.(280-282)Gta>Ata	p.V94I	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Missense_Mutation_p.V94I	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5			12					GCGGCTCTACGTAGACAAATC	0.353000																								0							SO:0001583	missense			ENST00000382771.4	0	1	hg19	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	0.164	-1.078385	0.01903	0.0	1.16E-4	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84516	-1.86;-1.86	5.12	-0.218	0.13142	Serpin domain (3);	0.554792	0.16710	N	0.202711	T	0.72779	0.3503	N	0.25647	0.755	0.09310	N	1	B;B	0.18968	0.002;0.032	B;B	0.12156	0.002;0.007	T	0.62115	-0.6922	10	0.56958	D	0.05	.	7.6841	0.28530	0.2986:0.0:0.5894:0.112	.	94;94	P36952;P36952-2	SPB5_HUMAN;.	I	94	ENSP00000372221:V94I;ENSP00000408821:V94I	ENSP00000372221:V94I	V	+	1	0	SERPINB5	59305270	0.264000	0.24093	0.047000	0.18901	0.902000	0.53008	0.384000	0.20668	0.016000	0.14998	-0.813000	0.03139	GTA		TCGA-IB-7651-01A-11D-2154-08	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	0	0	0	8	337	0	78	1	9.942773e-01	35	363	0	78	2		0	0	0	0	0	2	1	9.883903e-01	8	329	0	76	2								-3.165232	1	1	121406	5	40	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.280000	0.130000	0.500000	0.270000	0.299441	0.280000	0	1.900000e-01	3.900000e-01
SERPINB12	89777	broad.mit.edu	37	18	61231236	61231236	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61231236G>T	ENST00000269491.1	+	5	528	c.528G>T	c.(526-528)aaG>aaT	p.K176N	SERPINB12_ENST00000382768.1_Missense_Mutation_p.K196N	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12			26					TCTTCAGCAAGGACGCTATTA	0.368000																								0							SO:0001583	missense			ENST00000269491.1	1	1	hg19	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894220	0.52121	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84873	-1.91;-1.91	5.57	2.78	0.32641	Serpin domain (3);	0.358223	0.27035	N	0.021254	D	0.82444	0.5038	L	0.53729	1.69	0.24583	N	0.993861	B;P	0.40578	0.324;0.722	B;P	0.46172	0.31;0.506	T	0.71178	-0.4669	10	0.30854	T	0.27	.	7.3732	0.26813	0.4014:0.0:0.5986:0.0	.	196;176	Q3SYB4;Q96P63	.;SPB12_HUMAN	N	176;196	ENSP00000269491:K176N;ENSP00000372218:K196N	ENSP00000269491:K176N	K	+	3	2	SERPINB12	59382216	0.000000	0.05858	0.945000	0.38365	0.902000	0.53008	-0.617000	0.05584	0.834000	0.34852	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	1	0	1	94	463	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	89	441	0	107	2								-2.935504	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINB13	5275	broad.mit.edu	37	18	61261692	61261692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61261692G>T	ENST00000344731.5	+	6	678	c.576G>T	c.(574-576)aaG>aaT	p.K192N	SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13			25					GGGAGTTTAAGAAAGAAAATA	0.378000																								0							SO:0001583	missense			ENST00000344731.5	1	1	hg19	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451689	0.26074	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.83992	-1.79;-1.56	5.73	0.181	0.15073	Serpin domain (3);	0.108239	0.41294	N	0.000918	T	0.77618	0.4157	N	0.26042	0.785	0.32915	D	0.515049	P;B;D	0.89917	0.685;0.011;1.0	B;B;D	0.87578	0.381;0.015;0.998	T	0.74990	-0.3475	10	0.06099	T	0.92	.	4.2783	0.10820	0.2794:0.0:0.2086:0.512	.	201;110;192	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	N	192;110;192	ENSP00000269489:K192N;ENSP00000341584:K192N	ENSP00000269489:K192N	K	+	3	2	SERPINB13	59412672	0.000000	0.05858	0.998000	0.56505	0.995000	0.86356	-0.849000	0.04322	0.135000	0.18707	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	1	0	1	53	319	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	50	299	0	65	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
SERPINB13	5275	broad.mit.edu	37	18	61264460	61264460	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61264460G>A	ENST00000344731.5	+	8	1141	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A295T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13			25					CGAGGCTGCAGCTGCCACCGG	0.537000																								0							SO:0001583	missense			ENST00000344731.5	1	0	hg19	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636651	0.67130	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.87809	-2.3;-2.08	5.3	4.44	0.53790	Serpin domain (3);	0.000000	0.52532	D	0.000076	D	0.94118	0.8114	M	0.90759	3.145	0.58432	D	0.999991	D;D;D	0.89917	0.988;0.987;1.0	P;P;D	0.91635	0.893;0.691;0.999	D	0.94669	0.7855	10	0.66056	D	0.02	.	13.0074	0.58712	0.0776:0.0:0.9224:0.0	.	356;265;347	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	T	295;265;347	ENSP00000269489:A295T;ENSP00000341584:A347T	ENSP00000269489:A295T	A	+	1	0	SERPINB13	59415440	1.000000	0.71417	0.009000	0.14445	0.254000	0.26022	6.722000	0.74735	1.254000	0.44035	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	0	0	1	62	285	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	62	280	0	69	2								-1.163457	0	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINB4	6318	broad.mit.edu	37	18	61305075	61305075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61305075C>T	ENST00000341074.5	-	8	1166	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4			42					AATTCGACTACTACTACAGCG	0.463000																								0							SO:0001583	missense			ENST00000341074.5	1	1	hg19	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	c	4.557	0.103374	0.08731	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.82081	-1.57;-1.57	4.25	-8.49	0.00931	Serpin domain (3);	4.508830	0.01035	N	0.004211	T	0.57403	0.2051	N	0.04387	-0.21	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15484	0.013;0.013;0.013	T	0.61004	-0.7150	10	0.05351	T	0.99	.	7.6912	0.28569	0.0897:0.6499:0.0898:0.1706	.	351;351;330	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	I	351;299	ENSP00000343445:V351I;ENSP00000348795:V299I	ENSP00000343445:V351I	V	-	1	0	SERPINB4	59456055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.282000	0.00260	-2.173000	0.00773	-1.275000	0.01399	GTA		TCGA-IB-7651-01A-11D-2154-08	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	1	0	1	88	452	0	101	1	4.481110e-01	7	2	0	101	2		0	0	0	0	0	2	1	1	87	444	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINB11	89778	broad.mit.edu	37	18	61377552	61377552	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61377552T>C	ENST00000382749.5	+	0	370				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)			6		Esophageal squamous(42;0.129)			CTAAGCATGGTCCTCCTTGGT	0.448000													Ovarian(27;496 784 5942 8975 23930)											0											ENST00000382749.5	1	0	hg19		.	.	.	.	.	.	.	.	.	.	T	16.69	3.193059	0.58017	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.83335	-1.71;-1.71	5.14	5.14	0.70334	Serpin domain (3);	1.020130	0.07854	N	0.965175	T	0.82121	0.4968	L	0.39085	1.19	0.80722	D	1	D;P	0.57257	0.979;0.517	P;B	0.47402	0.546;0.253	T	0.77078	-0.2721	10	0.72032	D	0.01	.	13.1919	0.59715	0.0:0.0:0.0:1.0	.	42;42	F5GY69;Q96P15	.;SPB11_HUMAN	A	42	ENSP00000441497:V42A;ENSP00000440795:V42A	ENSP00000421854:V42A	V	+	2	0	SERPINB11	59528532	0.920000	0.31207	0.977000	0.42913	0.928000	0.56348	5.259000	0.65485	2.051000	0.60960	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	0	0	1	47	208	0	37	0	9.271999e-02	0	3	0	37	2		0	0	0	0	0	2	1	1	46	204	0	37	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINB7	8710	broad.mit.edu	37	18	61468118	61468118	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61468118G>A	ENST00000398019.2	+	7	941	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7			27		Esophageal squamous(42;0.129)			GAAGGCAGTCGCCATGATGCA	0.368000																								0							SO:0001583	missense			ENST00000398019.2	1	1	hg19	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064020	0.36373	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.1	-9.16	0.00694	Serpin domain (3);	1.594020	0.03372	N	0.199196	T	0.07954	0.0199	L	0.49513	1.565	0.09310	N	1	B;B	0.22346	0.003;0.068	B;B	0.15484	0.005;0.013	T	0.34800	-0.9814	10	0.72032	D	0.01	.	1.1245	0.01732	0.3147:0.3374:0.1226:0.2253	.	189;206	F5GZC0;O75635	.;SPB7_HUMAN	T	206;206;189;206	ENSP00000337212:A206T;ENSP00000381101:A206T;ENSP00000444572:A189T;ENSP00000444861:A206T	ENSP00000337212:A206T	A	+	1	0	SERPINB7	59619098	0.000000	0.05858	0.001000	0.08648	0.847000	0.48162	-0.302000	0.08221	-1.427000	0.01992	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	1	0	1	62	529	1	109	1	6.662310e-01	6	26	1	109	3		0	0	0	0	0	2	1	9.999999e-01	62	519	1	108	18								-19.532480	1	1	121412	4	42	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.950000	1.000000	1.000000	0.997451	0.990000	1	9.900000e-01	1
SERPINB10	5273	broad.mit.edu	37	18	61600360	61600360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61600360G>T	ENST00000238508.3	+	7	771	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10			24		Esophageal squamous(42;0.131)			AAAAGCAGTGGGCCTTCAACT	0.378000																								0							SO:0001583	missense			ENST00000238508.3	1	1	hg19	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520658	0.27211	.	.	ENSG00000242550	ENST00000238508	D	0.82619	-1.63	5.95	4.17	0.49024	Serpin domain (3);	0.332680	0.32703	N	0.005745	D	0.86456	0.5937	L	0.56124	1.755	0.09310	N	0.999995	D	0.76494	0.999	D	0.66716	0.946	T	0.77755	-0.2469	10	0.87932	D	0	.	8.3816	0.32474	0.285:0.0:0.715:0.0	.	238	P48595	SPB10_HUMAN	C	238	ENSP00000238508:G238C	ENSP00000238508:G238C	G	+	1	0	SERPINB10	59751340	0.124000	0.22315	0.240000	0.24138	0.009000	0.06853	1.407000	0.34657	1.539000	0.49286	-0.136000	0.14681	GGC		TCGA-IB-7651-01A-11D-2154-08	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	1	0	1	128	422	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1	126	409	0	121	2								-4.706184	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINB8	5271	broad.mit.edu	37	18	61650907	61650907	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61650907G>A	ENST00000397985.2	+	5	775	c.519G>A	c.(517-519)gaG>gaA	p.E173E	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Silent_p.E173E|SERPINB8_ENST00000353706.2_Silent_p.E173E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8			17		Esophageal squamous(42;0.129)			AGTGGAATGAGCAATTTGACA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000397985.2	1	1	hg19	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	3.149	-0.174580	0.06421	.	.	ENSG00000166401	ENST00000295211	.	.	.	5.65	-4.13	0.03904	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.28004	-1.0057	4	.	.	.	.	3.1715	0.06554	0.4879:0.0866:0.2433:0.1823	.	.	.	.	N	115	.	.	S	+	2	0	SERPINB8	59801887	0.000000	0.05858	0.012000	0.15200	0.538000	0.34931	-2.035000	0.01423	-0.698000	0.05085	-0.137000	0.14449	AGC		TCGA-IB-7651-01A-11D-2154-08	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	1	0	1	89	406	0	100	1	1	45	88	0	100	2		0	0	0	0	0	2	1	1	88	396	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
L3MBTL4	91133	broad.mit.edu	37	18	6263998	6263998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6263998C>T	ENST00000284898.6	-	5	367	c.167G>A	c.(166-168)tGg>tAg	p.W56*	L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.W56*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)			39		Colorectal(10;0.0249)			TTTCAAGTACCACTCCCAAGA	0.433000													Esophageal Squamous(41;748 902 17366 28959 43175)											0							SO:0001587	stop_gained			ENST00000284898.6	0	1	hg19	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	37	6.274849	0.97435	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	.	.	.	5.04	2.67	0.31697	.	0.187021	0.34676	N	0.003775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.4813	0.27406	0.0:0.1287:0.0:0.8713	.	.	.	.	X	56	.	ENSP00000284898:W56X	W	-	2	0	L3MBTL4	6253998	0.293000	0.24371	1.000000	0.80357	0.974000	0.67602	0.304000	0.19228	0.360000	0.24265	-0.142000	0.14014	TGG		TCGA-IB-7651-01A-11D-2154-08	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	1	0	0	41	261	0	93	0	1.438759e-01	0	5	0	93	2		0	0	0	0	0	2	1	1	41	253	0	93	2								-2.921789	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999909	0.990000	1	9.900000e-01	1
CDH7	1005	broad.mit.edu	37	18	63547943	63547943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:63547943C>T	ENST00000397968.2	+	12	2597	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2			80		Esophageal squamous(42;0.129)			GATCCTGGTGCTCCTCCTTAT	0.418000																								0							SO:0001583	missense			ENST00000397968.2	1	1	hg19	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886486	0.33348	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.78003	-1.14;-1.14	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	N	0.25245	0.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79181	-0.1909	10	0.27785	T	0.31	.	19.1123	0.93321	0.0:1.0:0.0:0.0	.	724	Q9ULB5	CADH7_HUMAN	V	724	ENSP00000319166:A724V;ENSP00000381058:A724V	ENSP00000319166:A724V	A	+	2	0	CDH7	61698923	1.000000	0.71417	0.103000	0.21229	0.029000	0.11900	7.818000	0.86416	2.515000	0.84797	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	1	0	1	135	584	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	134	569	0	99	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH19	28513	broad.mit.edu	37	18	64172320	64172320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:64172320C>T	ENST00000262150.2	-	12	2340	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2			61		Esophageal squamous(42;0.0132)			CAAAGACTGCCTGTATAGGCT	0.483000																								0							SO:0001583	missense			ENST00000262150.2	1	1	hg19	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947956	0.73787	.	.	ENSG00000071991	ENST00000262150	T	0.76448	-1.02	5.19	5.19	0.71726	Cadherin, cytoplasmic domain (1);	0.094394	0.64402	D	0.000001	D	0.85044	0.5607	M	0.63428	1.95	0.28559	N	0.911229	D	0.76494	0.999	D	0.74023	0.982	T	0.80106	-0.1521	10	0.66056	D	0.02	.	12.45	0.55671	0.0:0.9229:0.0:0.0771	.	683	Q9H159	CAD19_HUMAN	K	683	ENSP00000262150:R683K	ENSP00000262150:R683K	R	-	2	0	CDH19	62323300	0.002000	0.14202	0.889000	0.34880	0.727000	0.41649	1.519000	0.35888	2.569000	0.86673	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	1	0	1	167	786	0	151	0	2.857907e-01	0	6	0	151	2		0	0	0	0	0	2	1	1	160	765	0	150	2								-3.331212	1	1	121410	1	33	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSEL	92126	broad.mit.edu	37	18	65178608	65178608	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178608C>T	ENST00000310045.7	-	2	4741	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like			74		Esophageal squamous(42;0.129)			GGTTCATACTCGAAAGCATAA	0.363000																								0							SO:0001583	missense			ENST00000310045.7	1	1	hg19	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495674	0.64186	0.0	1.16E-4	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25414	1.8	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.467156	0.19485	U	0.113125	T	0.45875	0.1364	M	0.68952	2.095	0.50813	D	0.99989	D	0.63880	0.993	P	0.56474	0.799	T	0.48768	-0.9006	10	0.66056	D	0.02	-16.9802	18.2029	0.89844	0.0:1.0:0.0:0.0	.	1080	Q8IZU8	DSEL_HUMAN	K	1090;1080	ENSP00000310565:E1090K	ENSP00000310565:E1090K	E	-	1	0	DSEL	63329588	1.000000	0.71417	0.725000	0.30721	0.448000	0.32197	5.870000	0.69620	2.356000	0.79943	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	1	0	1	41	218	0	63	1	9.832244e-01	8	29	0	63	2		0	0	0	0	0	2	1	1	39	213	0	63	2								-3.340505	1	1	121308	1	32	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
DSEL	92126	broad.mit.edu	37	18	65178816	65178816	+	Silent	SNP	C	C	A	rs139752903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178816C>A	ENST00000310045.7	-	2	4533	c.3060G>T	c.(3058-3060)acG>acT	p.T1020T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like			74		Esophageal squamous(42;0.129)			GAAGCTTTAACGTCCAGCTTC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000310045.7	1	1	hg19	CCDS11995.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	1	0	1	104	416	0	100	1	9.973442e-01	8	30	0	100	2		0	0	0	0	0	2	1	1	103	412	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSEL	92126	broad.mit.edu	37	18	65178934	65178934	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178934C>A	ENST00000310045.7	-	2	4415	c.2942G>T	c.(2941-2943)aGa>aTa	p.R981I	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like			74		Esophageal squamous(42;0.129)			CATTTGACTTCTTTGTTCTGG	0.398000																								0							SO:0001583	missense			ENST00000310045.7	1	1	hg19	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591988	0.46214	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20463	2.07	5.17	4.29	0.51040	Sulfotransferase domain (1);	0.078108	0.50627	U	0.000120	T	0.32102	0.0818	L	0.44542	1.39	0.54753	D	0.999988	D	0.58970	0.984	P	0.60541	0.876	T	0.02567	-1.1140	10	0.87932	D	0	-17.4992	10.2898	0.43588	0.0:0.848:0.0:0.152	.	971	Q8IZU8	DSEL_HUMAN	I	981;971	ENSP00000310565:R981I	ENSP00000310565:R981I	R	-	2	0	DSEL	63329914	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.523000	0.35932	2.403000	0.81681	0.563000	0.77884	AGA		TCGA-IB-7651-01A-11D-2154-08	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	0	0	1	47	377	0	91	1	9.836826e-01	9	45	0	91	2		0	0	0	0	0	2	1	1	45	366	0	91	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.970000	1.000000	1.000000	0.997991	0.990000	1	9.900000e-01	1
TYMS	7298	broad.mit.edu	37	18	670816	670816	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:670816C>T	ENST00000323274.10	+	5	820	c.681C>T	c.(679-681)atC>atT	p.I227I	TYMS_ENST00000323250.5_Silent_p.I144I|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.I193I	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	p.I227I(1)		8				Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	CTTTCAACATCGCCAGCTACG	0.587000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000323274.10	1	1	hg19	CCDS11821.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	1	0	1	94	460	0	130	1	1	59	87	0	130	2		0	0	0	0	0	2	1	1	94	453	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TYMS	7298	broad.mit.edu	37	18	672975	672975	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:672975T>G	ENST00000323274.10	+	7	1059	c.920T>G	c.(919-921)aTt>aGt	p.I307S	TYMS_ENST00000323250.5_Missense_Mutation_p.I224S|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I273S	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase			8				Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	CATCCAACTATTAAAATGGAA	0.418000																								0							SO:0001583	missense			ENST00000323274.10	1	1	hg19	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986971	0.74589	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.044615	0.85682	D	0.000000	D	0.91402	0.7287	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.995;0.979;0.994	D	0.95074	0.8207	9	0.87932	D	0	-14.2036	16.3101	0.82865	0.0:0.0:0.0:1.0	.	224;273;307	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	S	307;273;224	.	ENSP00000314727:I273S	I	+	2	0	TYMS	662975	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.758000	0.85224	2.247000	0.74100	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	1	0	1	110	595	0	115	1	1	64	84	0	115	2		0	0	0	0	0	2	1	1	109	587	0	114	2								-20.000000	1	0	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTTN	25914	broad.mit.edu	37	18	67855345	67855345	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67855345A>G	ENST00000255674.6	-	10	1590	c.1304T>C	c.(1303-1305)aTg>aCg	p.M435T	RTTN_ENST00000437017.1_Splice_Site_p.M435T|RTTN_ENST00000454359.1_Splice_Site_p.M435T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin			80		Esophageal squamous(42;0.129)			GATTCTTACCATATCTATACC	0.333000																								0							SO:0001630	splice_region_variant			ENST00000255674.6	1	0	hg19	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927553	0.34002	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64085	0.67;-0.08;-0.08	5.53	5.53	0.82687	Armadillo-type fold (1);	0.125811	0.56097	D	0.000035	T	0.55305	0.1912	L	0.44542	1.39	0.33720	D	0.616864	B;B	0.31817	0.152;0.341	B;B	0.27076	0.023;0.076	T	0.69109	-0.5232	10	0.72032	D	0.01	.	15.6644	0.77217	1.0:0.0:0.0:0.0	.	435;435	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	T	435	ENSP00000255674:M435T;ENSP00000402352:M435T;ENSP00000399520:M435T	ENSP00000255674:M435T	M	-	2	0	RTTN	66006325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.815000	0.86186	2.101000	0.63845	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	1	0	1	35	136	0	56	0	1.135317e-01	1	2	0	56	2		0	0	0	0	0	2	1	1	35	132	0	56	2								-19.998900	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTTN	25914	broad.mit.edu	37	18	67863822	67863822	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67863822C>T	ENST00000255674.6	-	7	1042	c.756G>A	c.(754-756)tcG>tcA	p.S252S	RTTN_ENST00000437017.1_Silent_p.S252S|RTTN_ENST00000454359.1_Silent_p.S252S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin			80		Esophageal squamous(42;0.129)			GGCAGGACACCGACTGTAATG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000255674.6	1	1	hg19	CCDS42443.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	1	0	1	48	269	0	69	0	3.538505e-01	0	8	0	69	2		0	0	0	0	0	2	1	1	48	264	0	68	2								-2.314588	0	1	120832	1	32	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SOCS6	9306	broad.mit.edu	37	18	67992860	67992860	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67992860A>C	ENST00000397942.3	+	2	1272	c.956A>C	c.(955-957)aAt>aCt	p.N319T	SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6			22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)			CCAATGCAGAATAATCAAATC	0.502000													Melanoma(84;1024 1361 24382 36583 42651)											0							SO:0001583	missense			ENST00000397942.3	1	1	hg19	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	8.832	0.940237	0.18281	.	.	ENSG00000170677	ENST00000397942	T	0.26223	1.75	5.08	1.63	0.23807	.	0.292022	0.31177	N	0.008102	T	0.10937	0.0267	N	0.11560	0.145	0.34538	D	0.709975	B	0.02656	0.0	B	0.04013	0.001	T	0.18681	-1.0329	10	0.25106	T	0.35	-6.9417	5.9643	0.19316	0.6703:0.169:0.1607:0.0	.	319	O14544	SOCS6_HUMAN	T	319	ENSP00000381034:N319T	ENSP00000381034:N319T	N	+	2	0	SOCS6	66143840	0.982000	0.34865	0.169000	0.22859	0.978000	0.69477	1.537000	0.36083	0.057000	0.16193	0.459000	0.35465	AAT		TCGA-IB-7651-01A-11D-2154-08	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2	1	0	1	72	315	0	91	1	1	49	67	0	91	2		0	0	0	0	0	2	1	1	72	309	0	91	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP28	79822	broad.mit.edu	37	18	6837372	6837372	+	Missense_Mutation	SNP	A	A	G	rs2303978		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6837372A>G	ENST00000383472.4	+	3	606	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.I9V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28			37		Colorectal(10;0.168)			TAAGCAATCTATCAGGGATGT	0.468000																								0							SO:0001583	missense			ENST00000383472.4	1	0	hg19		4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	A	0.008	-1.907140	0.00512	.	.	ENSG00000088756	ENST00000400091;ENST00000532723;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986	T;T;T;T;T;T;T	0.19938	2.11;2.26;2.11;3.46;3.46;3.46;3.39	5.65	0.755	0.18415	.	0.444690	0.26297	N	0.025190	T	0.03608	0.0103	N	0.01209	-0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41980	-0.9478	10	0.02654	T	1	.	10.7975	0.46470	0.3132:0.0:0.6868:0.0	rs2303978;rs52829196;rs2303978	9;116	F6VKJ9;Q9P2N2-2	.;.	V	168;116;116;9;9;9;9	ENSP00000382963:I168V;ENSP00000433390:I116V;ENSP00000262227:I116V;ENSP00000392660:I9V;ENSP00000437262:I9V;ENSP00000313506:I9V;ENSP00000406907:I9V	ENSP00000262227:I116V	I	+	1	0	ARHGAP28	6827372	0.175000	0.23083	0.002000	0.10522	0.206000	0.24218	0.912000	0.28597	-0.069000	0.12931	-0.766000	0.03442	ATC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	1	0	1	53	237	0	46	0	3.471411e-02	0	2	0	46	2		0	0	0	0	0	2	1	1	53	231	0	46	2								-3.827533	1	1	121412	101	49	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP28	79822	broad.mit.edu	37	18	6868198	6868198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6868198C>T	ENST00000383472.4	+	6	880	c.776C>T	c.(775-777)cCg>cTg	p.P259L	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.P100L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28			37		Colorectal(10;0.168)			AATGGATCACCGGAGCCTGGA	0.463000																								0							SO:0001583	missense			ENST00000383472.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.65	1.410856	0.25465	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.07021	3.38;3.34;3.3;3.3;3.3;3.23	5.72	3.69	0.42338	.	1.798430	0.02100	N	0.053861	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.21452	0.007;0.005;0.056;0.005	B;B;B;B	0.12837	0.002;0.001;0.008;0.001	T	0.24548	-1.0157	10	0.30854	T	0.27	.	6.5227	0.22285	0.2533:0.6558:0.0:0.0909	.	259;91;100;207	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	259;207;100;95;100;100;91;82	ENSP00000382963:P259L;ENSP00000262227:P207L;ENSP00000392660:P100L;ENSP00000437262:P95L;ENSP00000313506:P100L;ENSP00000406907:P100L	ENSP00000262227:P207L	P	+	2	0	ARHGAP28	6858198	0.006000	0.16342	0.005000	0.12908	0.201000	0.24016	1.625000	0.37029	1.572000	0.49736	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	1	0	1	24	202	0	48	0	6.302859e-02	0	4	0	48	2		0	0	0	0	0	2	1	9.999998e-01	24	201	0	48	2								-2.458501	0	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.820000	1.000000	1.000000	0.986666	0.990000	1	9.900000e-01	1
LAMA1	284217	broad.mit.edu	37	18	6943388	6943388	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6943388A>G	ENST00000389658.3	-	62	8951	c.8858T>C	c.(8857-8859)gTc>gCc	p.V2953A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1			205		Colorectal(10;0.172)			ACCATTGTTGACATGGAACAA	0.408000																								0							SO:0001583	missense			ENST00000389658.3	1	1	hg19	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933569	0.73442	.	.	ENSG00000101680	ENST00000389658	T	0.76578	-1.03	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	D	0.000004	D	0.85465	0.5703	L	0.60845	1.875	0.46078	D	0.998851	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.917	D	0.84686	0.0720	10	0.37606	T	0.19	.	15.5018	0.75705	1.0:0.0:0.0:0.0	.	2953;283	P25391;B3KSD8	LAMA1_HUMAN;.	A	2953	ENSP00000374309:V2953A	ENSP00000374309:V2953A	V	-	2	0	LAMA1	6933388	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.146000	0.77373	2.073000	0.62155	0.456000	0.33151	GTC		TCGA-IB-7651-01A-11D-2154-08	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1	64	271	0	87	0	3.272650e-01	0	6	0	87	2		0	0	0	0	0	2	1	1	62	263	0	86	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA1	284217	broad.mit.edu	37	18	6947173	6947173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6947173C>T	ENST00000389658.3	-	61	8926	c.8833G>A	c.(8833-8835)Gtg>Atg	p.V2945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1			205		Colorectal(10;0.172)			TTGCCGTCCACAAGCTCTAGT	0.522000																								0							SO:0001583	missense			ENST00000389658.3	1	1	hg19	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542615	0.13250	.	.	ENSG00000101680	ENST00000389658	T	0.77489	-1.1	5.64	2.88	0.33553	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.291766	0.31884	N	0.006913	T	0.80110	0.4563	M	0.84683	2.71	0.09310	N	1	B;B	0.34200	0.393;0.441	B;B	0.40199	0.232;0.322	T	0.70916	-0.4742	10	0.33141	T	0.24	.	11.315	0.49386	0.0:0.8068:0.0:0.1932	.	2945;275	P25391;B3KSD8	LAMA1_HUMAN;.	M	2945	ENSP00000374309:V2945M	ENSP00000374309:V2945M	V	-	1	0	LAMA1	6937173	0.366000	0.25014	0.040000	0.18447	0.107000	0.19398	0.920000	0.28705	1.404000	0.46819	-0.448000	0.05591	GTG		TCGA-IB-7651-01A-11D-2154-08	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1	50	252	0	81	0	3.332488e-01	0	7	0	81	2		0	0	0	0	0	2	1	1	50	245	0	79	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA1	284217	broad.mit.edu	37	18	6948455	6948455	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6948455T>C	ENST00000389658.3	-	60	8750	c.8657A>G	c.(8656-8658)tAc>tGc	p.Y2886C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1			205		Colorectal(10;0.172)			GGCCACTGCGTAGCACCTGTT	0.542000																								0							SO:0001583	missense			ENST00000389658.3	1	1	hg19	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579569	0.28180	.	.	ENSG00000101680	ENST00000389658	T	0.18960	2.18	5.7	3.27	0.37495	Concanavalin A-like lectin/glucanase, subgroup (1);	0.234553	0.36665	N	0.002474	T	0.41305	0.1153	M	0.70595	2.14	0.32520	N	0.536383	D;D	0.76494	0.999;0.999	D;D	0.65684	0.935;0.937	T	0.55211	-0.8176	10	0.72032	D	0.01	.	11.188	0.48669	0.2451:0.0:0.0:0.7549	.	2886;216	P25391;B3KSD8	LAMA1_HUMAN;.	C	2886	ENSP00000374309:Y2886C	ENSP00000374309:Y2886C	Y	-	2	0	LAMA1	6938455	0.993000	0.37304	0.480000	0.27341	0.012000	0.07955	2.448000	0.44926	0.412000	0.25729	-0.444000	0.05651	TAC		TCGA-IB-7651-01A-11D-2154-08	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1	43	182	0	47	0	1.727721e-01	0	4	0	47	2		0	0	0	0	0	2	1	1	43	179	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA1	284217	broad.mit.edu	37	18	6973184	6973184	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6973184T>C	ENST00000389658.3	-	47	6739	c.6646A>G	c.(6646-6648)Agt>Ggt	p.S2216G	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1			205		Colorectal(10;0.172)			TCCTTTACACTCAGTGAACCA	0.378000																								0							SO:0001583	missense			ENST00000389658.3	1	1	hg19	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287825	0.59976	.	.	ENSG00000101680	ENST00000389658	T	0.78126	-1.15	5.52	4.32	0.51571	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.407860	0.26836	N	0.022253	T	0.77432	0.4129	L	0.60845	1.875	0.28094	N	0.931683	P	0.40970	0.734	B	0.44315	0.446	T	0.71849	-0.4468	10	0.49607	T	0.09	.	12.8178	0.57675	0.0:0.0:0.1365:0.8635	.	2216	P25391	LAMA1_HUMAN	G	2216	ENSP00000374309:S2216G	ENSP00000374309:S2216G	S	-	1	0	LAMA1	6963184	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.058000	0.71126	0.992000	0.38840	0.523000	0.50628	AGT		TCGA-IB-7651-01A-11D-2154-08	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	0	0	0	14	357	0	90	0	4.017956e-02	0	8	0	90	2		0	0	0	0	1	2	1	9.996882e-01	13	343	0	89	2								-3.690392	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.440000	0.250000	0.700000	0.430000	0.464753	0.440000	0	3.400000e-01	5.800000e-01
LAMA1	284217	broad.mit.edu	37	18	7013955	7013955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7013955G>A	ENST00000389658.3	-	23	3315	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1			205		Colorectal(10;0.172)			AACACTGATCGCAGGCCCGGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000389658.3	1	1	hg19	CCDS32787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	1	26	112	0	30	0	4.718941e-01	0	8	0	30	2		0	0	0	0	0	2	1	1	26	108	0	28	2								-20.000000	1	1	121412	3	28	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
LAMA1	284217	broad.mit.edu	37	18	7015724	7015724	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7015724G>A	ENST00000389658.3	-	22	3216	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1			205		Colorectal(10;0.172)			TGCTCACCTGGCACCCCACCT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000389658.3	1	1	hg19	CCDS32787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	0	0	0	21	535	0	118	0	1.487745e-02	0	5	0	118	2		0	0	0	0	0	2	1	9.999972e-01	22	526	0	117	2								-3.889443	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.440000	0.280000	0.650000	0.430000	0.457719	0.440000	0	3.500000e-01	5.500000e-01
LAMA1	284217	broad.mit.edu	37	18	7034541	7034541	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7034541A>G	ENST00000389658.3	-	14	2081	c.1988T>C	c.(1987-1989)cTt>cCt	p.L663P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1			205		Colorectal(10;0.172)			CACATTGGCAAGGACAGTCAT	0.408000																								0							SO:0001583	missense			ENST00000389658.3	1	1	hg19	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418436	0.83559	.	.	ENSG00000101680	ENST00000389658	T	0.65364	-0.15	5.9	5.9	0.94986	Laminin B type IV (2);Laminin B, subgroup (1);	0.070910	0.56097	D	0.000021	D	0.83519	0.5272	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86760	0.1966	10	0.59425	D	0.04	.	16.3283	0.82996	1.0:0.0:0.0:0.0	.	663	P25391	LAMA1_HUMAN	P	663	ENSP00000374309:L663P	ENSP00000374309:L663P	L	-	2	0	LAMA1	7024541	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	8.175000	0.89684	2.257000	0.74773	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	1	0	0	19	374	0	73	0	3.469906e-02	0	6	0	73	2		0	0	0	0	0	2	1	9.999907e-01	18	372	0	73	2								-4.691027	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.570000	0.350000	0.840000	0.550000	0.585473	0.570000	0	4.500000e-01	7.100000e-01
NETO1	81832	broad.mit.edu	37	18	70417299	70417299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417299C>A	ENST00000327305.6	-	9	2196	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1			63		Esophageal squamous(42;0.129)			ATACTGACCGCTGGACGGCTT	0.433000																								0							SO:0001583	missense			ENST00000327305.6	1	1	hg19	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436457	0.83885	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.24723	1.84;1.85	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000023	T	0.45236	0.1332	L	0.41236	1.265	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.78314	0.991;0.979	T	0.11966	-1.0566	10	0.44086	T	0.13	-8.9025	19.973	0.97292	0.0:1.0:0.0:0.0	.	512;513	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	513;512	ENSP00000313088:Q513H;ENSP00000299430:Q512H	ENSP00000299430:Q512H	Q	-	3	2	NETO1	68568279	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.452000	0.80683	2.725000	0.93324	0.460000	0.39030	CAG		TCGA-IB-7651-01A-11D-2154-08	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	1	0	1	54	225	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1	53	223	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NETO1	81832	broad.mit.edu	37	18	70417673	70417673	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417673C>T	ENST00000327305.6	-	9	1822	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NETO1_ENST00000299430.2_Missense_Mutation_p.E388K|NETO1_ENST00000583169.1_Missense_Mutation_p.E389K|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1			63		Esophageal squamous(42;0.129)			TGAGGAGGTTCAAATACCTCC	0.428000																								0							SO:0001583	missense			ENST00000327305.6	1	1	hg19	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408397	0.96051	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.44881	0.91;0.91	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000011	T	0.63105	0.2483	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.76071	0.987;0.867	T	0.65043	-0.6264	10	0.72032	D	0.01	-21.3855	19.1774	0.93607	0.0:1.0:0.0:0.0	.	388;389	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	389;388	ENSP00000313088:E389K;ENSP00000299430:E388K	ENSP00000299430:E388K	E	-	1	0	NETO1	68568653	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.442000	0.80503	2.594000	0.87642	0.455000	0.32223	GAA		TCGA-IB-7651-01A-11D-2154-08	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	1	0	1	67	291	0	78	0	3.590395e-02	0	2	0	78	2		0	0	0	0	0	2	1	1	63	287	0	76	2								-3.466513	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA1	284217	broad.mit.edu	37	18	7043403	7043403	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7043403T>C	ENST00000389658.3	-	8	1071	c.978A>G	c.(976-978)gcA>gcG	p.A326A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1			205		Colorectal(10;0.172)			GACAATTACATGCTAGGAGAA	0.338000																								0							SO:0001630	splice_region_variant			ENST00000389658.3	0	1	hg19	CCDS32787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	0	0	0	14	385	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	9.997565e-01	14	383	0	75	2								-3.526900	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.410000	0.230000	0.650000	0.410000	0.432719	0.410000	0	3.100000e-01	5.400000e-01
NETO1	81832	broad.mit.edu	37	18	70461420	70461420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461420C>T	ENST00000327305.6	-	6	1228	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NETO1_ENST00000299430.2_Missense_Mutation_p.E190K|NETO1_ENST00000583169.1_Missense_Mutation_p.E191K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1			63		Esophageal squamous(42;0.129)			GCTTTGCCTTCCTTCATAATT	0.458000																								0							SO:0001583	missense			ENST00000327305.6	1	1	hg19	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093415	0.94149	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.57752	0.38;0.38	5.29	5.29	0.74685	CUB (4);	0.000000	0.64402	D	0.000011	T	0.63212	0.2492	M	0.73598	2.24	0.80722	D	1	P;P	0.45768	0.728;0.866	B;P	0.46389	0.217;0.515	T	0.69412	-0.5152	10	0.72032	D	0.01	-18.1455	18.9328	0.92572	0.0:1.0:0.0:0.0	.	190;191	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	191;190	ENSP00000313088:E191K;ENSP00000299430:E190K	ENSP00000299430:E190K	E	-	1	0	NETO1	68612400	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.487000	0.81328	2.462000	0.83206	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	1	0	1	89	415	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	89	403	0	111	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NETO1	81832	broad.mit.edu	37	18	70461430	70461430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461430T>G	ENST00000327305.6	-	6	1218	c.561A>C	c.(559-561)caA>caC	p.Q187H	NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1			63		Esophageal squamous(42;0.129)			CCTTCATAATTTGTATAGACT	0.438000																								0							SO:0001583	missense			ENST00000327305.6	1	1	hg19	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254677	0.59212	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.39592	1.07;1.07	5.29	-3.05	0.05396	CUB (4);	0.000000	0.56097	D	0.000026	T	0.58264	0.2110	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.78314	0.991;0.981	T	0.60662	-0.7219	10	0.66056	D	0.02	-13.7615	11.5235	0.50565	0.0:0.4964:0.0:0.5036	.	186;187	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	187;186	ENSP00000313088:Q187H;ENSP00000299430:Q186H	ENSP00000299430:Q186H	Q	-	3	2	NETO1	68612410	0.627000	0.27129	0.727000	0.30756	0.741000	0.42261	-0.207000	0.09384	-0.588000	0.05882	-0.256000	0.11100	CAA		TCGA-IB-7651-01A-11D-2154-08	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	1	0	1	85	390	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	83	379	0	106	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NETO1	81832	broad.mit.edu	37	18	70532465	70532465	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70532465A>C	ENST00000327305.6	-	2	697	c.40T>G	c.(40-42)Tta>Gta	p.L14V	NETO1_ENST00000299430.2_Missense_Mutation_p.L13V|NETO1_ENST00000583169.1_Missense_Mutation_p.L14V|NETO1_ENST00000397929.1_Missense_Mutation_p.L13V|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1			63		Esophageal squamous(42;0.129)			AGGATGATTAAACTTGCTACA	0.299000																								0							SO:0001583	missense			ENST00000327305.6	0	1	hg19	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299055	0.40694	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.27402	1.88;1.67;1.72	5.77	4.48	0.54585	.	0.000000	0.43919	D	0.000502	T	0.18923	0.0454	N	0.24115	0.695	0.41532	D	0.988462	B;B;B	0.26147	0.143;0.062;0.017	B;B;B	0.25506	0.061;0.056;0.01	T	0.08513	-1.0718	10	0.72032	D	0.01	-0.6025	5.8898	0.18904	0.7757:0.0:0.2243:0.0	.	13;13;14	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	V	14;13;13	ENSP00000313088:L14V;ENSP00000299430:L13V;ENSP00000381024:L13V	ENSP00000299430:L13V	L	-	1	2	NETO1	68683445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.645000	0.46621	2.340000	0.79590	0.528000	0.53228	TTA		TCGA-IB-7651-01A-11D-2154-08	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	0	0	0	5	107	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.360223e-01	4	106	0	35	2								-8.693337	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.550000	0.210000	1.000000	1.000000	0.581476	0.550000	0	3.500000e-01	8.100000e-01
ENOSF1	55556	broad.mit.edu	37	18	706481	706481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:706481C>T	ENST00000251101.7	-	2	270	c.182G>A	c.(181-183)gGc>gAc	p.G61D	ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A18T|ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D|RP11-806L2.6_ENST00000580007.1_RNA	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1			10					AACTTCAGTGCCTTTTCCCAG	0.418000																								0							SO:0001583	missense			ENST00000251101.7	1	1	hg19	CCDS11822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.120108|2.120108	0.37436|0.37436	.|.	.|.	ENSG00000132199|ENSG00000132199	ENST00000383578|ENST00000251101;ENST00000340116;ENST00000539164	T|T;T;T	0.30182|0.46063	1.54|0.88;0.88;0.88	5.56|5.56	4.69|4.69	0.59074|0.59074	.|Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	.|0.049387	.|0.85682	.|N	.|0.000000	T|T	0.64000|0.64000	0.2559|0.2559	.|.	.|.	.|.	0.43708|0.43708	D|D	0.996177|0.996177	B|D;D;D	0.14805|0.76494	0.011|0.999;0.997;0.998	B|D;D;D	0.11329|0.72338	0.006|0.977;0.962;0.957	T|T	0.68800|0.68800	-0.5313|-0.5313	8|9	0.62326|0.87932	D|D	0.03|0	.|.	12.9562|12.9562	0.58430|0.58430	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	18|82;106;61	Q7L5Y1-2|A6NMP3;Q6ZS08;Q7L5Y1	.|.;.;ENOF1_HUMAN	T|D	18|61;82;61	ENSP00000373072:A18T|ENSP00000251101:G61D;ENSP00000345974:G82D;ENSP00000446321:G61D	ENSP00000373072:A18T|ENSP00000251101:G61D	A|G	-|-	1|2	0|0	ENOSF1|ENOSF1	696481|696481	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	4.071000|4.071000	0.57556|0.57556	1.344000|1.344000	0.45657|0.45657	0.561000|0.561000	0.74099|0.74099	GCA|GGC		TCGA-IB-7651-01A-11D-2154-08	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	1	0	1	81	397	0	108	1	9.290410e-01	3	21	0	108	2		0	0	0	0	0	2	1	1	76	392	0	107	2								-20.000000	1	1	121412	1	39	1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO15	201456	broad.mit.edu	37	18	71796836	71796836	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71796836C>A	ENST00000419743.2	-	5	668	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	FBXO15_ENST00000269500.5_Missense_Mutation_p.G121C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15			27		Esophageal squamous(42;0.103)|Prostate(75;0.173)			ATTGCCCAACCTAAACCAAAT	0.308000																								0							SO:0001583	missense			ENST00000419743.2	1	1	hg19	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396078	0.62177	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.9;0.88	5.85	2.69	0.31865	.	0.424638	0.28016	N	0.016924	T	0.48447	0.1500	L	0.57536	1.79	0.26728	N	0.970651	D;D	0.69078	0.997;0.993	P;P	0.57283	0.817;0.628	T	0.37549	-0.9701	10	0.72032	D	0.01	-15.6153	5.641	0.17565	0.0:0.5174:0.0:0.4826	.	197;121	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	121;197	ENSP00000269500:G121C;ENSP00000393154:G197C	ENSP00000269500:G121C	G	-	1	0	FBXO15	69947816	0.140000	0.22579	0.974000	0.42286	0.931000	0.56810	0.702000	0.25631	0.799000	0.34018	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	1	0	1	33	156	0	29	0	8.524384e-02	1	2	0	29	2		0	0	0	0	0	2	1	1	32	154	0	28	2								-3.420585	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
CNDP2	55748	broad.mit.edu	37	18	72187265	72187265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72187265G>A	ENST00000324262.4	+	12	1706	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T|CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)			24		Esophageal squamous(42;0.131)|Prostate(75;0.173)			CAAGATGCTGGCCGCGTACCT	0.547000																								0							SO:0001583	missense			ENST00000324262.4	1	1	hg19	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722165	0.68959	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09723	2.95;2.95	5.44	4.56	0.56223	.	0.147326	0.64402	D	0.000010	T	0.20047	0.0482	M	0.78801	2.425	0.38235	D	0.941156	P;P	0.38195	0.513;0.622	B;B	0.43251	0.291;0.413	T	0.02942	-1.1091	10	0.72032	D	0.01	-9.0077	11.9072	0.52719	0.0801:0.0:0.9199:0.0	.	380;464	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	T	464;380	ENSP00000325548:A464T;ENSP00000325756:A380T	ENSP00000325548:A464T	A	+	1	0	CNDP2	70338245	1.000000	0.71417	0.972000	0.41901	0.323000	0.28346	5.178000	0.65037	2.548000	0.85928	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	1	0	1	31	153	0	57	1	1	210	583	0	57	2		0	0	0	0	0	2	1	1	31	147	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
LRRC30	339291	broad.mit.edu	37	18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30			31					CCTGCTGAAGCGGGGCATGCA	0.597000																								0							SO:0001583	missense			ENST00000383467.2	1	1	hg19	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017675	0.75161	2.52E-4	0.0	ENSG00000206422	ENST00000383467	T	0.46063	0.88	5.65	5.65	0.86999	.	0.523108	0.19917	N	0.103161	T	0.39226	0.1070	L	0.32530	0.975	0.38096	D	0.937119	D	0.71674	0.998	P	0.47528	0.549	T	0.35500	-0.9786	10	0.56958	D	0.05	.	12.5974	0.56478	0.0:0.9239:0.0:0.0761	.	46	A6NM36	LRC30_HUMAN	W	46	ENSP00000372959:R46W	ENSP00000372959:R46W	R	+	1	2	LRRC30	7221272	0.998000	0.40836	0.976000	0.42696	0.825000	0.46686	0.830000	0.27462	2.827000	0.97445	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	1	0	1	93	403	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	91	395	0	95	2								-3.910294	1	1	120882	9	40	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF407	55628	broad.mit.edu	37	18	72343146	72343146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72343146G>A	ENST00000299687.5	+	1	171	c.171G>A	c.(169-171)tcG>tcA	p.S57S	ZNF407_ENST00000309902.6_Silent_p.S57S|ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	p.S57S(1)		67		Esophageal squamous(42;0.131)|Prostate(75;0.173)			CAGAATCATCGAACTCTGATA	0.413000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000299687.5	1	1	hg19	CCDS45885.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	1	74	305	0	76	0	2.557960e-01	0	5	0	76	2		0	0	0	0	0	2	1	1	71	298	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF407	55628	broad.mit.edu	37	18	72353033	72353033	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72353033T>C	ENST00000299687.5	+	2	4757	c.4757T>C	c.(4756-4758)gTg>gCg	p.V1586A	ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A|ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407			67		Esophageal squamous(42;0.131)|Prostate(75;0.173)			AGAAACCATGTGAAAAGGCAC	0.423000																								0							SO:0001583	missense			ENST00000299687.5	1	1	hg19	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734815	0.69189	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.60672	0.17;2.42	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.68016	0.2955	L	0.42744	1.35	0.36137	D	0.846519	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.67019	-0.5776	10	0.22109	T	0.4	.	15.1811	0.72960	0.0:0.0:0.0:1.0	.	1586;1586;1586	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	A	1586	ENSP00000299687:V1586A;ENSP00000310359:V1586A	ENSP00000299687:V1586A	V	+	2	0	ZNF407	70482021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	0.240000	0.21263	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	1	140	526	0	160	1	9.774739e-01	7	18	0	160	2		0	0	0	0	0	2	1	1	138	520	0	159	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF407	55628	broad.mit.edu	37	18	72775187	72775187	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775187C>T	ENST00000299687.5	+	8	5510	c.5510C>T	c.(5509-5511)gCg>gTg	p.A1837V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407			67		Esophageal squamous(42;0.131)|Prostate(75;0.173)			TTCACCGCGGCGGCCTTGGCA	0.617000																								0							SO:0001583	missense			ENST00000299687.5	1	1	hg19	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986701	0.35036	.	.	ENSG00000215421	ENST00000299687	T	0.11930	2.73	4.97	3.19	0.36642	.	.	.	.	.	T	0.06416	0.0165	L	0.27053	0.805	0.09310	N	0.999998	P	0.50710	0.938	B	0.33890	0.172	T	0.36696	-0.9737	9	0.05721	T	0.95	.	9.8525	0.41066	0.0:0.8462:0.0:0.1538	.	1837	Q9C0G0	ZN407_HUMAN	V	1837	ENSP00000299687:A1837V	ENSP00000299687:A1837V	A	+	2	0	ZNF407	70904175	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	5.516000	0.67055	-0.759000	0.04684	-2.034000	0.00421	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	0	0	0	24	965	0	181	0	9.903186e-02	1	20	0	181	2		0	0	0	0	0	2	1	9.999996e-01	24	956	0	179	2								-2.508582	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.280000	0.180000	0.410000	0.290000	0.294030	0.280000	0	2.300000e-01	3.500000e-01
ZNF407	55628	broad.mit.edu	37	18	72775296	72775296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775296C>T	ENST00000299687.5	+	8	5619	c.5619C>T	c.(5617-5619)gaC>gaT	p.D1873D		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407			67		Esophageal squamous(42;0.131)|Prostate(75;0.173)			AGGGCTACGACGGGGAGTTTG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000299687.5	1	1	hg19	CCDS45885.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	0	65	210	0	49	1	6.664824e-01	2	7	0	49	2		0	0	0	0	0	2	1	1	65	205	0	48	2								-20.000000	1	0	120902	6	35	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF407	55628	broad.mit.edu	37	18	72775354	72775354	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775354C>T	ENST00000299687.5	+	8	5677	c.5677C>T	c.(5677-5679)Ctg>Ttg	p.L1893L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407			67		Esophageal squamous(42;0.131)|Prostate(75;0.173)			GCTGCAGACGCTGGCCATGGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000299687.5	0	1	hg19	CCDS45885.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	1	17	121	0	22	1	3.249755e-01	4	5	0	22	2		0	0	0	0	0	2	1	9.999646e-01	17	115	0	22	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.870000	1.000000	1.000000	0.992830	0.990000	1	9.900000e-01	1
ZADH2	284273	broad.mit.edu	37	18	72913911	72913911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72913911G>A	ENST00000322342.3	-	2	883	c.594C>T	c.(592-594)tgC>tgT	p.C198C	ZADH2_ENST00000537114.2_Silent_p.C75C	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2			15		Esophageal squamous(42;0.131)|Prostate(75;0.155)			CAATTACATGGCACTTTGCCT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000322342.3	1	1	hg19	CCDS12008.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	1	0	1	136	1318	0	309	1	9.943585e-01	9	67	0	309	2		0	0	0	0	0	2	1	1	132	1301	0	308	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.920000	1.000000	1.000000	0.994382	0.990000	1	9.900000e-01	1
TSHZ1	10194	broad.mit.edu	37	18	72997452	72997452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72997452C>T	ENST00000580243.1	+	2	438	c.90C>T	c.(88-90)caC>caT	p.H30H	TSHZ1_ENST00000322038.5_5'UTR			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1			42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)			ATGAAGAGCACGTGGAGGATG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000580243.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	0	0	1	20	110	0	28	1	9.537529e-01	7	24	0	28	2		0	0	0	0	0	2	1	9.999968e-01	20	108	0	28	2								-20.000000	1	1	120376	1	26	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999397	0.990000	1	9.900000e-01	1
TSHZ1	10194	broad.mit.edu	37	18	72998525	72998525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998525C>T	ENST00000580243.1	+	2	1511	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P343L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1			42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)			GCAGCGAACCCGTACGTCACG	0.622000																								0							SO:0001583	missense			ENST00000580243.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.22	1.290455	0.23478	.	.	ENSG00000179981	ENST00000322038	T	0.11604	2.76	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.35593	1.075	0.42428	D	0.992664	D	0.89917	1.0	D	0.64506	0.926	T	0.13899	-1.0492	10	0.02654	T	1	-26.8549	18.8997	0.92437	0.0:1.0:0.0:0.0	.	388	Q6ZSZ6	TSH1_HUMAN	L	343	ENSP00000323584:P343L	ENSP00000323584:P343L	P	+	2	0	TSHZ1	71127513	1.000000	0.71417	0.903000	0.35520	0.304000	0.27724	7.343000	0.79319	-1.153000	0.02829	-1.134000	0.01955	CCG		TCGA-IB-7651-01A-11D-2154-08	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	1	0	1	54	298	0	73	1	9.991884e-01	11	50	0	73	2		0	0	0	0	0	2	1	1	54	297	0	73	2								-2.529046	1	1	121412	3	35	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TSHZ1	10194	broad.mit.edu	37	18	72998659	72998659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998659G>A	ENST00000580243.1	+	2	1645	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A388T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1			42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)			GCAGCTCACCGCCCACATGAT	0.597000																								0							SO:0001583	missense			ENST00000580243.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.40	1.926152	0.34002	0.0	1.16E-4	ENSG00000179981	ENST00000322038	T	0.28069	1.63	5.27	4.38	0.52667	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	N	0.02539	-0.55	0.52099	D	0.999949	P	0.40731	0.728	B	0.35073	0.195	T	0.18935	-1.0321	10	0.10111	T	0.7	-25.0106	9.3694	0.38246	0.0752:0.1457:0.7791:0.0	.	433	Q6ZSZ6	TSH1_HUMAN	T	388	ENSP00000323584:A388T	ENSP00000323584:A388T	A	+	1	0	TSHZ1	71127647	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.389000	0.97243	2.452000	0.82932	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	0	0	0	7	268	0	46	0	4.026651e-01	0	49	0	46	2		0	0	0	0	0	2	1	9.796839e-01	7	263	0	45	2								-7.853657	1	1	121412	1	31	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.310000	0.130000	0.570000	0.290000	0.332191	0.310000	0	2.100000e-01	4.400000e-01
TSHZ1	10194	broad.mit.edu	37	18	72999114	72999114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999114G>T	ENST00000580243.1	+	2	2100	c.1752G>T	c.(1750-1752)caG>caT	p.Q584H	TSHZ1_ENST00000322038.5_Missense_Mutation_p.Q539H			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1			42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)			CAGCCTACCAGCTCCCGGGCA	0.637000																								0							SO:0001583	missense			ENST00000580243.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	5.717	0.316735	0.10845	.	.	ENSG00000179981	ENST00000322038	T	0.46063	0.88	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.83483	2.645	0.41441	D	0.987929	D	0.71674	0.998	D	0.79784	0.993	T	0.68383	-0.5423	10	0.87932	D	0	-33.2648	11.2543	0.49045	0.1473:0.0:0.8527:0.0	.	584	Q6ZSZ6	TSH1_HUMAN	H	539	ENSP00000323584:Q539H	ENSP00000323584:Q539H	Q	+	3	2	TSHZ1	71128102	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.607000	0.61133	0.665000	0.31066	-0.291000	0.09656	CAG		TCGA-IB-7651-01A-11D-2154-08	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	1	0	1	60	340	0	60	1	9.996191e-01	12	56	0	60	2		0	0	0	0	0	2	1	1	59	336	0	60	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHZ1	10194	broad.mit.edu	37	18	72999452	72999452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999452C>T	ENST00000580243.1	+	2	2438	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A652V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1			42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)			GGCCCTGAGGCCGAGACTGGG	0.557000																								0							SO:0001583	missense			ENST00000580243.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.444	-0.896895	0.02472	.	.	ENSG00000179981	ENST00000322038	T	0.37752	1.18	5.12	2.31	0.28768	.	1.288840	0.04943	N	0.458924	T	0.27454	0.0674	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55945	-0.8060	10	0.41790	T	0.15	-3.9715	10.0651	0.42299	0.0:0.7777:0.0:0.2223	.	697	Q6ZSZ6	TSH1_HUMAN	V	652	ENSP00000323584:A652V	ENSP00000323584:A652V	A	+	2	0	TSHZ1	71128440	0.012000	0.17670	0.000000	0.03702	0.064000	0.16182	1.052000	0.30429	-4.679000	0.00036	-1.982000	0.00454	GCC		TCGA-IB-7651-01A-11D-2154-08	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	0	0	0	7	269	0	65	1	6.703356e-01	2	84	0	65	2		0	0	0	0	0	2	1	9.794134e-01	7	263	0	64	2								-8.031873	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.310000	0.130000	0.570000	0.290000	0.331018	0.310000	0	2.100000e-01	4.400000e-01
TSHZ1	10194	broad.mit.edu	37	18	72999799	72999799	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999799A>G	ENST00000580243.1	+	2	2785	c.2437A>G	c.(2437-2439)Acc>Gcc	p.T813A	TSHZ1_ENST00000322038.5_Missense_Mutation_p.T768A			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1			42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)			CATTGACTTAACCAAGTCCAA	0.567000																								0							SO:0001583	missense			ENST00000580243.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.40	1.626961	0.28978	.	.	ENSG00000179981	ENST00000322038	T	0.53423	0.62	5.26	5.26	0.73747	.	0.052129	0.85682	D	0.000000	T	0.52092	0.1713	M	0.80422	2.495	0.46222	D	0.99893	P	0.43287	0.802	B	0.38616	0.277	T	0.63189	-0.6693	10	0.87932	D	0	-49.2603	15.1778	0.72927	1.0:0.0:0.0:0.0	.	813	Q6ZSZ6	TSH1_HUMAN	A	768	ENSP00000323584:T768A	ENSP00000323584:T768A	T	+	1	0	TSHZ1	71128787	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.817000	0.91985	2.466000	0.83321	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	1	0	1	68	339	0	81	1	9.999599e-01	13	63	0	81	2		0	0	0	0	0	2	1	1	68	332	0	79	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF516	9658	broad.mit.edu	37	18	74090972	74090972	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74090972G>T	ENST00000443185.2	-	4	3415	c.3098C>A	c.(3097-3099)gCt>gAt	p.A1033D	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516			32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)			GGGCGCCCCAGCCACGCCGGG	0.682000																								0							SO:0001583	missense			ENST00000443185.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	2.797	-0.250111	0.05867	.	.	ENSG00000101493	ENST00000443185	T	0.10573	2.86	2.24	1.29	0.21616	.	0.919558	0.09263	N	0.826312	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.39663	-0.9603	8	0.87932	D	0	.	5.3938	0.16259	0.128:0.2057:0.6663:0.0	.	.	.	.	D	1033	ENSP00000394757:A1033D	ENSP00000394757:A1033D	A	-	2	0	ZNF516	72219960	0.000000	0.05858	0.004000	0.12327	0.102000	0.19082	0.294000	0.19047	0.226000	0.20979	0.486000	0.48141	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	0	61	338	0	53	1	4.154258e-01	4	5	0	53	2		0	0	0	0	0	2	1	1	60	329	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF516	9658	broad.mit.edu	37	18	74091237	74091237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091237C>T	ENST00000443185.2	-	4	3150	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516			32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)			TTGCTATTGGCCGAGGGCTGC	0.677000																								0							SO:0001583	missense			ENST00000443185.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.077	-1.191499	0.01607	.	.	ENSG00000101493	ENST00000443185	T	0.09911	2.93	4.13	2.34	0.29019	.	1.899140	0.02400	N	0.080617	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.35375	-0.9791	9	0.11485	T	0.65	.	3.2019	0.06652	0.1866:0.502:0.0:0.3114	.	945	Q92618	ZN516_HUMAN	T	945	ENSP00000394757:A945T	ENSP00000394757:A945T	A	-	1	0	ZNF516	72220225	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.125000	0.15749	0.520000	0.28426	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	0	58	304	0	44	1	8.072605e-01	4	14	0	44	2		0	0	0	0	0	2	1	1	58	299	0	43	2								-3.331871	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF516	9658	broad.mit.edu	37	18	74091857	74091857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091857C>T	ENST00000443185.2	-	4	2530	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516			32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)			CCGCGTCGACCTCGCACTTAA	0.592000																								0							SO:0001583	missense			ENST00000443185.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.392	-0.922902	0.02377	.	.	ENSG00000101493	ENST00000443185	T	0.09073	3.02	4.55	0.168	0.15012	.	0.745817	0.12140	N	0.495931	T	0.02455	0.0075	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	9	0.02654	T	1	-16.5927	2.3624	0.04310	0.4105:0.3026:0.0:0.2869	.	738	Q92618	ZN516_HUMAN	K	738	ENSP00000394757:R738K	ENSP00000394757:R738K	R	-	2	0	ZNF516	72220845	0.817000	0.29147	0.010000	0.14722	0.004000	0.04260	1.027000	0.30115	0.122000	0.18314	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1	34	179	0	44	1	9.932855e-01	6	38	0	44	2		0	0	0	0	0	2	1	1	34	178	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
ZNF516	9658	broad.mit.edu	37	18	74153437	74153437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74153437C>T	ENST00000443185.2	-	3	1891	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516			32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)			ATGATAGGTGCGGAAGATCTT	0.716000																								0							SO:0001583	missense			ENST00000443185.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	25.5	4.645577	0.87859	.	.	ENSG00000101493	ENST00000443185	T	0.29142	1.58	5.21	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.58278	0.2111	.	.	.	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.65721	-0.6099	9	0.72032	D	0.01	-61.0823	15.6856	0.77409	0.0:0.8623:0.1376:0.0	.	525	Q92618	ZN516_HUMAN	H	525	ENSP00000394757:R525H	ENSP00000394757:R525H	R	-	2	0	ZNF516	72282425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	1.253000	0.44018	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	0	10	64	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.973693e-01	10	63	0	15	2								-17.851740	1	1	119124	1	30	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.800000	1.000000	1.000000	0.987366	0.990000	1	9.900000e-01	1
ZNF516	9658	broad.mit.edu	37	18	74154150	74154150	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154150C>T	ENST00000443185.2	-	3	1178	c.861G>A	c.(859-861)gaG>gaA	p.E287E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516			32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)			GGAACCAGGGCTCCTTGAACC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000443185.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1	40	261	0	56	0	4.939255e-01	1	11	0	56	2		0	0	0	0	0	2	1	1	39	256	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999845	0.990000	1	9.900000e-01	1
ZNF516	9658	broad.mit.edu	37	18	74154335	74154335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154335C>T	ENST00000443185.2	-	3	993	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516			32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)			GGCCCCTGCGCGGTGATGTGG	0.697000																								0							SO:0001583	missense			ENST00000443185.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.53	2.860693	0.51482	.	.	ENSG00000101493	ENST00000443185	T	0.11169	2.8	4.4	4.4	0.53042	.	0.073018	0.53938	D	0.000045	T	0.07279	0.0184	.	.	.	0.28717	N	0.903243	B	0.31968	0.349	B	0.21546	0.035	T	0.16335	-1.0406	9	0.33141	T	0.24	-2.0811	12.0526	0.53515	0.0:0.9159:0.0:0.0841	.	226	Q92618	ZN516_HUMAN	T	226	ENSP00000394757:A226T	ENSP00000394757:A226T	A	-	1	0	ZNF516	72283323	0.998000	0.40836	0.673000	0.29887	0.881000	0.50899	3.696000	0.54757	2.443000	0.82685	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	1	51	154	0	30	1	9.554746e-01	3	15	0	30	2		0	0	0	0	0	2	1	1	49	154	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF516	9658	broad.mit.edu	37	18	74154528	74154528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154528C>T	ENST00000443185.2	-	3	800	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516			32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)			ATGCGGACCCCTCTGCCCCCT	0.697000																								0							SO:0001819	synonymous_variant			ENST00000443185.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		1	0	0	35	114	0	20	0	5.977691e-01	1	7	0	20	2		0	0	0	0	0	2	1	1	34	112	0	20	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF236	7776	broad.mit.edu	37	18	74561610	74561610	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74561610G>A	ENST00000253159.8	+	2	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236			94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)			GAGGGATCACGAGCGAAATGA	0.358000																								0							SO:0001583	missense			ENST00000253159.8	1	1	hg19	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244485	0.79912	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.16743	2.32;2.32	5.65	5.65	0.86999	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.20483	0.58	0.46725	D	0.999171	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.766	T	0.05305	-1.0893	10	0.20519	T	0.43	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	60;60	Q9NWI2;Q9UL36	.;ZN236_HUMAN	K	60	ENSP00000253159:E60K;ENSP00000444524:E60K	ENSP00000253159:E60K	E	+	1	0	ZNF236	72690598	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.692000	0.68256	2.668000	0.90789	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1	1	0	1	42	164	0	53	1	6.902586e-01	4	7	0	53	2		0	0	0	0	0	2	1	1	42	162	0	52	2								-3.345759	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF236	7776	broad.mit.edu	37	18	74620380	74620380	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74620380A>C	ENST00000253159.8	+	14	2594	c.2396A>C	c.(2395-2397)gAg>gCg	p.E799A	ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236			94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)			ATGCAGGTGGAGATCGAGAGC	0.622000																								0							SO:0001583	missense			ENST00000253159.8	1	1	hg19	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292833	0.23564	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11385	2.78;2.94	5.23	4.07	0.47477	.	0.263343	0.35495	N	0.003164	T	0.12987	0.0315	M	0.65975	2.015	0.36641	D	0.876866	B	0.24483	0.104	B	0.19148	0.024	T	0.06110	-1.0845	10	0.33940	T	0.23	.	10.9976	0.47585	0.9261:0.0:0.0739:0.0	.	799	Q9UL36	ZN236_HUMAN	A	799	ENSP00000253159:E799A;ENSP00000444524:E799A	ENSP00000253159:E799A	E	+	2	0	ZNF236	72749368	1.000000	0.71417	0.353000	0.25747	0.228000	0.25075	4.800000	0.62524	0.941000	0.37499	0.460000	0.39030	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1	1	0	1	115	553	0	131	1	5.900762e-01	5	6	0	131	2		0	0	0	0	0	2	1	1	114	544	0	131	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF236	7776	broad.mit.edu	37	18	74649280	74649280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74649280C>T	ENST00000253159.8	+	26	4955	c.4757C>T	c.(4756-4758)aCa>aTa	p.T1586I	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236			94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)			GACACTGTCACACTCAACATC	0.512000																								0							SO:0001583	missense			ENST00000253159.8	1	1	hg19	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494537	0.44352	.	.	ENSG00000130856	ENST00000253159	T	0.10960	2.82	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.32530	0.975	0.34972	D	0.753266	D	0.76494	0.999	D	0.63488	0.915	T	0.02378	-1.1168	10	0.46703	T	0.11	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	1586	Q9UL36	ZN236_HUMAN	I	1586	ENSP00000253159:T1586I	ENSP00000253159:T1586I	T	+	2	0	ZNF236	72778268	1.000000	0.71417	0.337000	0.25536	0.961000	0.63080	6.460000	0.73518	2.752000	0.94435	0.557000	0.71058	ACA		TCGA-IB-7651-01A-11D-2154-08	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1	1	0	0	29	124	0	25	1	6.959466e-01	3	9	0	25	2		0	0	0	0	0	2	1	1	28	122	0	25	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
MBP	4155	broad.mit.edu	37	18	74700865	74700865	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74700865T>C	ENST00000397869.3	-	3	332	c.286A>G	c.(286-288)Acg>Gcg	p.T96A	MBP_ENST00000355994.2_Missense_Mutation_p.T229A|MBP_ENST00000527041.1_Intron|MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000359645.3_Missense_Mutation_p.T122A|MBP_ENST00000528160.1_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000354542.4_Intron|MBP_ENST00000579129.1_Missense_Mutation_p.T229A			P13727	PRG2_HUMAN	myelin basic protein			19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		Sargramostim(DB00020)	GTGCGAGGCGTCACCTGGAAA	0.537000													NSCLC(17;72 1131 19392)											0							SO:0001583	missense			ENST00000397869.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	18.35	3.604648	0.66445	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.34	3.1	0.35709	.	0.350057	0.26213	N	0.025670	T	0.53642	0.1809	L	0.40543	1.245	0.32076	N	0.593799	P;D;P;B;B	0.63046	0.804;0.992;0.544;0.199;0.199	P;D;B;B;B	0.76071	0.625;0.987;0.133;0.193;0.193	T	0.60005	-0.7347	9	0.72032	D	0.01	.	6.6358	0.22881	0.2966:0.0:0.0:0.7034	.	96;229;96;122;122	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	A	122;229;106;96;96;122;96;74;96;40	.	ENSP00000348273:T229A	T	-	1	0	MBP	72829853	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.776000	0.47709	1.832000	0.53329	0.482000	0.46254	ACG		TCGA-IB-7651-01A-11D-2154-08	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	1	0	1	128	668	0	135	0	2.504956e-01	0	6	0	135	2		0	0	0	0	0	2	1	1	127	652	0	136	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALR1	2587	broad.mit.edu	37	18	74962940	74962940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74962940C>A	ENST00000299727.3	+	1	436	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1			24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)			CTCCTCCTCCCTCAGGGTGTC	0.672000																								0							SO:0001583	missense			ENST00000299727.3	1	1	hg19	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820857	0.16678	.	.	ENSG00000166573	ENST00000299727	T	0.71698	-0.59	4.49	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.157190	0.42821	N	0.000642	T	0.45796	0.1360	N	0.10916	0.065	0.39673	D	0.970781	B	0.12013	0.005	B	0.12156	0.007	T	0.24404	-1.0161	10	0.26408	T	0.33	.	6.7241	0.23346	0.3058:0.6095:0.0:0.0848	.	146	P47211	GALR1_HUMAN	I	146	ENSP00000299727:L146I	ENSP00000299727:L146I	L	+	1	0	GALR1	73091928	0.774000	0.28592	0.970000	0.41538	0.332000	0.28634	1.084000	0.30828	0.816000	0.34421	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1	1	0	1	57	256	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	54	251	0	52	2								-3.431856	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YES1	7525	broad.mit.edu	37	18	756664	756664	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:756664C>A	ENST00000584307.1	-	2	334	c.164G>T	c.(163-165)aGc>aTc	p.S55I	YES1_ENST00000314574.4_Missense_Mutation_p.S55I|YES1_ENST00000577961.1_Missense_Mutation_p.S60I|YES1_ENST00000577611.1_5'UTR			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase			17				Dasatinib(DB01254)	GGAAAGACTGCTGAAATTAAC	0.488000																								0							SO:0001583	missense			ENST00000584307.1	1	1	hg19	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567998	0.28003	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.74947	-0.89	4.91	-2.04	0.07343	.	0.513334	0.22949	N	0.053687	T	0.48040	0.1478	N	0.08118	0	0.24759	N	0.992936	B	0.19445	0.036	B	0.14023	0.01	T	0.41484	-0.9506	10	0.59425	D	0.04	.	7.5341	0.27700	0.0:0.1655:0.1453:0.6892	.	55	P07947	YES_HUMAN	I	55	ENSP00000324740:S55I	ENSP00000324740:S55I	S	-	2	0	YES1	746664	0.994000	0.37717	0.590000	0.28732	0.972000	0.66771	0.469000	0.22067	-0.087000	0.12528	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	1	0	1	133	645	0	171	1	1	56	118	0	171	2		0	0	0	0	0	2	1	1	131	632	0	169	2								-20.000000	1	1	0	0		1	1	2	3	2.007506	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SALL3	27164	broad.mit.edu	37	18	76757124	76757124	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:76757124C>T	ENST00000537592.2	+	3	3705	c.3705C>T	c.(3703-3705)aaC>aaT	p.N1235N	SALL3_ENST00000536229.3_Silent_p.N1030N|SALL3_ENST00000575389.2_Silent_p.N1163N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3			74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)			TCATCCAGAACGGCGGCATCC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000537592.2	1	1	hg19	CCDS12013.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	1	0	1	170	677	0	162		0	0	0	0	162	2		0	0	0	0	0	2	1	1	167	660	0	156	2								-20.000000	1	1	121412	4	38	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP9B	374868	broad.mit.edu	37	18	77037156	77037156	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77037156G>T	ENST00000426216.2	+	13	1388	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B			38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)			CTATCCCAGAGGAACTTGGGC	0.453000																								0							SO:0001583	missense			ENST00000426216.2	1	1	hg19	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	g	19.56	3.850651	0.71719	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.94723	-3.5;-3.5	5.4	-1.31	0.09230	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.972;0.987	D	0.94917	0.8070	10	0.87932	D	0	.	11.5903	0.50941	0.6405:0.0:0.3595:0.0	.	457;457	O43861;O43861-2	ATP9B_HUMAN;.	D	457	ENSP00000398076:E457D;ENSP00000304500:E457D	ENSP00000304500:E457D	E	+	3	2	ATP9B	75138144	0.711000	0.27906	0.931000	0.37212	0.900000	0.52787	-0.034000	0.12225	-0.207000	0.10187	-0.119000	0.15052	GAG		TCGA-IB-7651-01A-11D-2154-08	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	1	0	1	88	437	0	83	1	9.891876e-01	6	31	0	83	2		0	0	0	0	0	2	1	1	87	425	0	82	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP9B	374868	broad.mit.edu	37	18	77090061	77090061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77090061C>T	ENST00000426216.2	+	17	2002	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V|ATP9B_ENST00000543761.1_5'Flank	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B			38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)			GCTGACGTGGCCATGTCTCCT	0.468000																								0							SO:0001583	missense			ENST00000426216.2	1	1	hg19	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262139	0.01445	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.68765	-0.35;-0.35	5.45	3.61	0.41365	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.106419	0.64402	N	0.000006	T	0.27866	0.0686	N	0.00500	-1.43	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38243	-0.9670	10	0.02654	T	1	.	11.2144	0.48817	0.0:0.8474:0.0:0.1526	.	662;662	O43861;O43861-2	ATP9B_HUMAN;.	V	662	ENSP00000398076:A662V;ENSP00000304500:A662V	ENSP00000304500:A662V	A	+	2	0	ATP9B	75191049	0.006000	0.16342	0.387000	0.26183	0.021000	0.10359	0.127000	0.15790	0.621000	0.30232	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	1	0	1	46	269	0	58	1	9.749057e-01	7	30	0	58	2		0	0	0	0	0	2	1	1	44	260	0	58	2								-3.021125	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
ATP9B	374868	broad.mit.edu	37	18	77133958	77133958	+	Missense_Mutation	SNP	C	C	T	rs140981029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77133958C>T	ENST00000426216.2	+	28	3148	c.3131C>T	c.(3130-3132)gCc>gTc	p.A1044V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V|ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B			38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)			CACGTGGTGGCCATCTCCTTC	0.597000																								0							SO:0001583	missense			ENST00000426216.2	1	1	hg19	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044220	0.93685	2.27E-4	2.33E-4	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	D;D;D	0.88975	-2.45;-2.45;-2.45	5.19	4.29	0.51040	.	0.110918	0.64402	D	0.000011	D	0.94647	0.8274	M	0.90595	3.13	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.66497	0.928;0.944	D	0.95051	0.8187	10	0.72032	D	0.01	.	12.8963	0.58101	0.0:0.9185:0.0:0.0815	.	1044;1044	O43861;O43861-2	ATP9B_HUMAN;.	V	1044;1044;365	ENSP00000398076:A1044V;ENSP00000304500:A1044V;ENSP00000442015:A365V	ENSP00000304500:A1044V	A	+	2	0	ATP9B	75234946	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.732000	0.68563	1.116000	0.41820	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	1	0	1	77	370	0	90	1	9.906771e-01	8	29	0	90	2		0	0	0	0	0	2	1	1	76	359	0	90	2								-3.318794	1	1	121412	19	47	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC1	4772	broad.mit.edu	37	18	77170796	77170796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77170796C>T	ENST00000427363.2	+	2	521	c.521C>T	c.(520-522)gCc>gTc	p.A174V	NFATC1_ENST00000253506.5_Missense_Mutation_p.A174V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V|NFATC1_ENST00000545796.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1			40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Pseudoephedrine(DB00852)	CTGAGCCCGGCCAGCAGCCTG	0.662000													GBM(151;1210 2593 28719 45011)											0							SO:0001583	missense			ENST00000427363.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.9	4.877003	0.91664	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.78816	-1.21;-1.21;-1.21	4.46	4.46	0.54185	.	0.057048	0.64402	D	0.000001	D	0.88130	0.6354	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.994;0.994;0.997;0.999;0.999;0.999;0.994	P;P;D;D;D;D;P	0.71184	0.856;0.856;0.917;0.972;0.972;0.972;0.856	D	0.90098	0.4182	10	0.72032	D	0.01	-31.3227	17.2844	0.87137	0.0:1.0:0.0:0.0	.	161;161;174;174;174;161;174	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	174;174;174;161;161;138	ENSP00000253506:A174V;ENSP00000442435:A174V;ENSP00000327850:A161V	ENSP00000253506:A174V	A	+	2	0	NFATC1	75271784	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.039000	0.76544	2.293000	0.77203	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	1	85	352	0	88	1	9.859174e-01	6	24	0	88	2		0	0	0	0	0	2	1	1	84	350	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC1	4772	broad.mit.edu	37	18	77171307	77171307	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171307C>A	ENST00000427363.2	+	2	1032	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	NFATC1_ENST00000253506.5_Silent_p.P344P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000329101.4_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1			40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Pseudoephedrine(DB00852)	AGCAGCCGCCCTCAGTGGCGC	0.687000													GBM(151;1210 2593 28719 45011)											0							SO:0001819	synonymous_variant			ENST00000427363.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	0	54	282	0	57	0	4.425770e-01	1	8	0	57	2		0	0	0	0	0	2	1	1	54	279	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC1	4772	broad.mit.edu	37	18	77171438	77171438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171438C>T	ENST00000427363.2	+	2	1163	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	NFATC1_ENST00000253506.5_Missense_Mutation_p.A388V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1			40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Pseudoephedrine(DB00852)	CAGTACCTGGCGGTGCCGCAG	0.706000													GBM(151;1210 2593 28719 45011)											0							SO:0001583	missense			ENST00000427363.2	1	1	hg19		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.93	1.489050	0.26686	0.0	1.17E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.14640	2.89;2.49;2.72	4.81	4.81	0.61882	.	0.320352	0.33364	N	0.004996	T	0.06826	0.0174	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P;P;P	0.39782	0.688;0.688;0.688;0.477;0.477;0.624;0.688	B;B;B;B;B;B;B	0.27500	0.08;0.08;0.05;0.08;0.08;0.067;0.05	T	0.33240	-0.9876	10	0.08179	T	0.78	-15.3254	18.0734	0.89419	0.0:1.0:0.0:0.0	.	375;375;388;388;388;375;388	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	388;388;388;375;375;352	ENSP00000253506:A388V;ENSP00000442435:A388V;ENSP00000327850:A375V	ENSP00000253506:A388V	A	+	2	0	NFATC1	75272426	1.000000	0.71417	0.716000	0.30569	0.700000	0.40528	4.620000	0.61226	2.497000	0.84241	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	0	35	121	0	20	0	9.152089e-01	1	16	0	20	2		0	0	0	0	0	2	1	1	34	120	0	18	2								-20.000000	1	1	115052	5	36	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC1	4772	broad.mit.edu	37	18	77193710	77193710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77193710C>T	ENST00000427363.2	+	3	1358	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	NFATC1_ENST00000253506.5_Missense_Mutation_p.A453V|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1			40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Pseudoephedrine(DB00852)	GCCGTGAAGGCGTCGGCCGGA	0.632000													GBM(151;1210 2593 28719 45011)											0							SO:0001583	missense			ENST00000427363.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925889	0.92319	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.46063	0.88;0.88;0.88;0.91	4.49	4.49	0.54785	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P	0.61003	0.647;0.647;0.73;0.802;0.802;0.882;0.73	T	0.70916	-0.4742	10	0.87932	D	0	-12.6612	17.1628	0.86808	0.0:1.0:0.0:0.0	.	440;440;453;453;453;440;453	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	453;453;453;440;440;417	ENSP00000253506:A453V;ENSP00000442435:A453V;ENSP00000327850:A440V;ENSP00000389377:A440V	ENSP00000253506:A453V	A	+	2	0	NFATC1	75294698	1.000000	0.71417	0.920000	0.36463	0.681000	0.39784	7.334000	0.79224	2.024000	0.59613	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	1	149	468	0	87	1	9.939019e-01	6	21	0	87	2		0	0	0	0	0	2	1	1	148	466	0	87	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC1	4772	broad.mit.edu	37	18	77246678	77246678	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77246678G>A	ENST00000427363.2	+	9	2523	c.2523G>A	c.(2521-2523)tcG>tcA	p.S841S	NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000329101.4_Silent_p.S828S|NFATC1_ENST00000545796.1_Silent_p.S369S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1			40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Pseudoephedrine(DB00852)	TCGAACACTCGCTCTGCCCCA	0.751000													GBM(151;1210 2593 28719 45011)											0							SO:0001819	synonymous_variant			ENST00000427363.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	0	32	148	0	23	0	0	0	1	0	23	2		0	0	0	0	0	2	1	1	31	146	0	23	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
NFATC1	4772	broad.mit.edu	37	18	77287542	77287542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77287542C>T	ENST00000427363.2	+	10	2797	c.2797C>T	c.(2797-2799)Cga>Tga	p.R933*	NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R703*|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.R920*|NFATC1_ENST00000590172.1_3'UTR|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1			40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		Pseudoephedrine(DB00852)	TGAAATAATACGAAATGACCT	0.428000													GBM(151;1210 2593 28719 45011)											0							SO:0001587	stop_gained			ENST00000427363.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	c	18.98	3.738555	0.69304	.	.	ENSG00000131196	ENST00000318065;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000397794	.	.	.	4.93	1.79	0.24919	.	0.481200	0.17773	N	0.162505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-0.8441	5.9129	0.19039	0.2614:0.5513:0.0:0.1874	.	.	.	.	X	933;703;920;461;897	.	ENSP00000316553:R933X	R	+	1	2	NFATC1	75388530	1.000000	0.71417	0.020000	0.16555	0.438000	0.31896	1.806000	0.38892	0.480000	0.27534	0.580000	0.79431	CGA		TCGA-IB-7651-01A-11D-2154-08	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	1	0	0	30	316	0	54	0	2.906546e-01	0	12	0	54	2		0	0	0	0	0	2	1	1	30	309	0	54	2								-10.016120	1	1	121410	1	35	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.700000	1.000000	1.000000	0.943940	0.990000	1	8.400000e-01	1
CTDP1	9150	broad.mit.edu	37	18	77513682	77513682	+	Silent	SNP	C	C	T	rs112322343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77513682C>T	ENST00000299543.7	+	13	2925	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1			35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)			ATGAAGAGGACGCCGCCAGCG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000299543.7	1	1	hg19	CCDS12017.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	0	0	0	53	195	1	39	1	8.984236e-01	13	29	1	39	6		0	0	0	0	0	2	1	9.999949e-01	51	191	1	39	19								-20.000000	1	1	121410	11	41	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNG2	26251	broad.mit.edu	37	18	77659147	77659147	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659147C>T	ENST00000316249.3	+	2	732	c.732C>T	c.(730-732)tgC>tgT	p.C244C	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2			18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)			AGAGCAAGTGCGCCTTCCTGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000316249.3	1	1	hg19	CCDS12019.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	1	0	0	20	111	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999963e-01	20	107	0	31	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999351	0.990000	1	9.900000e-01	1
KCNG2	26251	broad.mit.edu	37	18	77659170	77659170	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659170A>T	ENST00000316249.3	+	2	755	c.755A>T	c.(754-756)aAc>aTc	p.N252I	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2			18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)			GCGCCACTCAACATCATTGAC	0.682000																								0							SO:0001583	missense			ENST00000316249.3	1	1	hg19	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017956	0.54576	.	.	ENSG00000178342	ENST00000316249	D	0.99245	-5.62	3.6	2.4	0.29515	Ion transport (1);	0.128701	0.50627	U	0.000102	D	0.99524	0.9830	H	0.97214	3.96	0.36120	D	0.845401	D	0.59767	0.986	D	0.68192	0.956	D	0.99433	1.0936	10	0.87932	D	0	.	9.6117	0.39668	0.8154:0.1846:0.0:0.0	.	252	Q9UJ96	KCNG2_HUMAN	I	252	ENSP00000315654:N252I	ENSP00000315654:N252I	N	+	2	0	KCNG2	75760158	1.000000	0.71417	0.475000	0.27278	0.541000	0.35023	6.203000	0.72137	0.446000	0.26666	0.338000	0.21704	AAC		TCGA-IB-7651-01A-11D-2154-08	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	1	0	0	31	123	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	1	30	118	0	25	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KCNG2	26251	broad.mit.edu	37	18	77659486	77659486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659486C>T	ENST00000316249.3	+	2	1071	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2			18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)			CCAGCGTGCCCGCCAGCTATT	0.706000																								0							SO:0001819	synonymous_variant			ENST00000316249.3	1	1	hg19	CCDS12019.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	1	0	0	27	196	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	26	191	0	31	2								-3.319302	1	1	121040	5	35	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.960000	1.000000	1.000000	0.997305	0.990000	1	9.900000e-01	1
KCNG2	26251	broad.mit.edu	37	18	77659752	77659752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659752G>A	ENST00000316249.3	+	2	1337	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2			18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)			AGCTCGCAGGGCCCCGACAGC	0.761000																								0							SO:0001583	missense			ENST00000316249.3	1	1	hg19	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	g	5.131	0.209690	0.09757	.	.	ENSG00000178342	ENST00000316249	D	0.97209	-4.29	3.12	-0.94	0.10405	.	681.941000	0.00166	N	0.000002	D	0.90373	0.6987	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83394	0.0019	10	0.35671	T	0.21	.	1.1096	0.01701	0.4624:0.1736:0.2081:0.156	.	446	Q9UJ96	KCNG2_HUMAN	D	446	ENSP00000315654:G446D	ENSP00000315654:G446D	G	+	2	0	KCNG2	75760740	0.756000	0.28383	0.000000	0.03702	0.078000	0.17371	0.318000	0.19504	-0.038000	0.13624	0.187000	0.17357	GGC		TCGA-IB-7651-01A-11D-2154-08	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	1	0	0	28	107	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	1	27	105	0	15	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PQLC1	80148	broad.mit.edu	37	18	77679208	77679208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77679208C>T	ENST00000397778.2	-	5	766	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H|PQLC1_ENST00000409073.1_Missense_Mutation_p.R112H|PQLC1_ENST00000590381.1_Intron	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1			9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)			GGACTGGTGGCGGTGGTTGCG	0.602000																								0							SO:0001583	missense			ENST00000397778.2	1	1	hg19	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533771	0.45073	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	D;D;D	0.98762	-5.12;-5.12;-5.12	5.1	0.718	0.18202	.	0.270350	0.37577	N	0.002023	D	0.95796	0.8632	L	0.53617	1.68	0.31935	N	0.611672	B;B	0.15473	0.013;0.005	B;B	0.14578	0.011;0.008	D	0.92252	0.5809	10	0.49607	T	0.09	-11.2406	2.861	0.05586	0.2073:0.3046:0.0:0.4881	.	195;177	Q8N2U9;G5E989	PQLC1_HUMAN;.	H	195;112;177	ENSP00000380880:R195H;ENSP00000387221:R112H;ENSP00000350188:R177H	ENSP00000350188:R177H	R	-	2	0	PQLC1	75780196	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	1.270000	0.33086	0.552000	0.29026	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	0	0	1	42	195	0	52	1	1	37	117	0	52	2		0	0	0	0	0	2	1	1	41	191	0	52	2								-3.418823	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADNP2	22850	broad.mit.edu	37	18	77896474	77896474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896474G>T	ENST00000262198.4	+	4	3633	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2			42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)			ATTTCTTAAAGATTATTTCCA	0.348000																								0							SO:0001583	missense			ENST00000262198.4	1	1	hg19	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404616	0.42613	.	.	ENSG00000101544	ENST00000262198	D	0.92199	-2.99	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.159508	0.43579	D	0.000542	D	0.93719	0.7993	L	0.54323	1.7	0.39665	D	0.970677	D	0.76494	0.999	D	0.69479	0.964	D	0.93066	0.6478	9	.	.	.	-27.2568	11.4188	0.49969	0.0823:0.0:0.9177:0.0	.	1060	Q6IQ32	ADNP2_HUMAN	Y	1060	ENSP00000262198:D1060Y	.	D	+	1	0	ADNP2	75997465	0.999000	0.42202	1.000000	0.80357	0.889000	0.51656	3.598000	0.54038	2.482000	0.83794	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	0	0	1	51	253	1	63	1	9.284562e-01	11	39	1	63	5		0	0	0	0	0	2	1	9.999974e-01	51	251	1	62	17								-20.000000	1	1	121386	2	35	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADNP2	22850	broad.mit.edu	37	18	77896614	77896614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896614G>T	ENST00000262198.4	+	4	3773	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2			42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)			AAAATCACAAGCCTTCTGTAC	0.303000																								0							SO:0001583	missense			ENST00000262198.4	1	1	hg19	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447950	0.43429	.	.	ENSG00000101544	ENST00000262198	D	0.91686	-2.89	4.43	0.386	0.16254	Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.92522	0.7625	L	0.55743	1.74	0.34969	D	0.75298	D	0.67145	0.996	D	0.63793	0.918	D	0.91527	0.5239	9	.	.	.	-26.3007	9.0574	0.36414	0.5522:0.0:0.4478:0.0	.	1106	Q6IQ32	ADNP2_HUMAN	N	1106	ENSP00000262198:K1106N	.	K	+	3	2	ADNP2	75997605	0.731000	0.28111	0.999000	0.59377	0.978000	0.69477	-0.344000	0.07780	0.121000	0.18284	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	1	0	0	33	128	0	39	1	9.960539e-01	14	23	0	39	2		0	0	0	0	0	2	1	1	32	128	0	39	2								-20.000000	1	0	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRM	5797	broad.mit.edu	37	18	7888369	7888369	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7888369T>G	ENST00000332175.8	+	3	1499	c.462T>G	c.(460-462)ttT>ttG	p.F154L	PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L|PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M			90		Colorectal(10;0.234)			GGCCTAACTTTTATCAGGTAT	0.348000																								0							SO:0001583	missense			ENST00000332175.8	1	1	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006859	0.74932	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02050	4.48;4.48;4.48	6.07	0.947	0.19555	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.108351	0.64402	D	0.000004	T	0.02494	0.0076	L	0.39633	1.23	0.80722	D	1	P;P	0.45011	0.848;0.848	B;B	0.41036	0.346;0.346	T	0.59742	-0.7397	10	0.46703	T	0.11	.	10.3573	0.43972	0.0:0.333:0.0:0.667	.	154;154	A7MBN1;P28827	.;PTPRM_HUMAN	L	154;154;92	ENSP00000331418:F154L;ENSP00000382933:F154L;ENSP00000382927:F92L	ENSP00000331418:F154L	F	+	3	2	PTPRM	7878369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.280000	0.33202	0.178000	0.19917	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1	69	414	0	74	1	9.902353e-01	2	43	0	74	2		0	0	0	0	0	2	1	1	68	407	0	73	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRM	5797	broad.mit.edu	37	18	7926650	7926650	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7926650G>T	ENST00000332175.8	+	5	1669	c.632G>T	c.(631-633)aGg>aTg	p.R211M	PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M|PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M|PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M			90		Colorectal(10;0.234)			GCCATCGGCAGGACCGTGGCA	0.507000																								0							SO:0001583	missense			ENST00000332175.8	1	1	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926527	0.52759	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.22743	1.94;1.94;1.94	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.104379	0.64402	D	0.000006	T	0.20129	0.0484	L	0.47190	1.495	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.37091	0.241;0.241	T	0.01684	-1.1296	10	0.87932	D	0	.	10.9831	0.47506	0.1443:0.0:0.8557:0.0	.	211;211	A7MBN1;P28827	.;PTPRM_HUMAN	M	211;211;149	ENSP00000331418:R211M;ENSP00000382933:R211M;ENSP00000382927:R149M	ENSP00000331418:R211M	R	+	2	0	PTPRM	7916650	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.022000	0.49659	2.602000	0.87976	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1	52	280	0	101	0	9.948996e-01	0	46	0	101	2		0	0	0	0	0	2	1	1	51	272	0	99	2								-3.232518	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PTPRM	5797	broad.mit.edu	37	18	8069961	8069961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8069961C>A	ENST00000332175.8	+	8	2447	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M			90		Colorectal(10;0.234)			GGAAGGAAAGCCAAGAACTCA	0.423000																								0							SO:0001583	missense			ENST00000332175.8	1	1	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071031	0.76301	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.52	-5.01	0.02991	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	M	0.74881	2.28	0.49687	D	0.999814	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.992;0.992	T	0.75337	-0.3353	10	0.27785	T	0.31	.	17.3804	0.87403	0.0:0.7317:0.0:0.2683	.	257;470;470	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	R	470;470;408;257	ENSP00000331418:S470R;ENSP00000382933:S470R;ENSP00000382927:S408R;ENSP00000387608:S257R	ENSP00000331418:S470R	S	+	3	2	PTPRM	8059961	0.841000	0.29509	0.733000	0.30861	0.989000	0.77384	0.065000	0.14466	-0.815000	0.04346	-0.302000	0.09304	AGC		TCGA-IB-7651-01A-11D-2154-08	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1	23	117	0	38	1	9.999930e-01	5	102	0	38	2		0	0	0	0	0	2	1	9.999995e-01	20	115	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999848	0.990000	1	9.900000e-01	1
PTPRM	5797	broad.mit.edu	37	18	8113534	8113534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8113534C>T	ENST00000332175.8	+	12	2944	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M			90		Colorectal(10;0.234)			ACTAAAAAGACGACAGAAATC	0.388000																								0							SO:0001583	missense			ENST00000332175.8	1	1	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138704	0.77775	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.48201	1.14;1.14;0.97;0.82	5.84	5.84	0.93424	Fibronectin, type III (1);	0.158718	0.56097	D	0.000036	T	0.57873	0.2083	L	0.40543	1.245	0.58432	D	0.999999	D;P;P	0.67145	0.996;0.776;0.776	P;B;B	0.57204	0.815;0.34;0.34	T	0.55398	-0.8147	10	0.51188	T	0.08	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	423;636;636	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	M	636;636;574;423	ENSP00000331418:T636M;ENSP00000382933:T636M;ENSP00000382927:T574M;ENSP00000387608:T423M	ENSP00000331418:T636M	T	+	2	0	PTPRM	8103534	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.487000	0.81328	2.764000	0.94973	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1	67	291	0	67	1	9.999888e-01	4	71	0	67	2		0	0	0	0	0	2	1	1	65	288	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRM	5797	broad.mit.edu	37	18	8244161	8244161	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8244161C>T	ENST00000332175.8	+	15	3443	c.2406C>T	c.(2404-2406)tgC>tgT	p.C802C	PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000400060.4_Silent_p.C802C|PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000400053.4_Silent_p.C740C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M			90		Colorectal(10;0.234)			GCACAAACTGCGACGAGGCTT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000332175.8	1	1	hg19	CCDS11840.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1	79	374	0	115	1	9.999995e-01	5	96	0	115	2		0	0	0	0	0	2	1	1	78	369	0	115	2								-3.184063	1	1	121412	1	32	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRM	5797	broad.mit.edu	37	18	8380330	8380330	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8380330C>T	ENST00000332175.8	+	27	4821	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M			90		Colorectal(10;0.234)			AGTCACCCAGCATCCTTTGCC	0.433000																								0							SO:0001583	missense			ENST00000332175.8	1	1	hg19	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391628	0.83011	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.76002	2.32	0.80722	D	1	B;D;D	0.62365	0.12;0.991;0.969	B;D;D	0.76575	0.291;0.988;0.968	T	0.04708	-1.0932	10	0.42905	T	0.14	.	19.7344	0.96195	0.0:1.0:0.0:0.0	.	1049;1275;1262	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	1262;1276;1200;1049	ENSP00000331418:H1262Y;ENSP00000382933:H1276Y;ENSP00000382927:H1200Y;ENSP00000387608:H1049Y	ENSP00000331418:H1262Y	H	+	1	0	PTPRM	8370330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.591000	0.81541	CAT		TCGA-IB-7651-01A-11D-2154-08	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1	52	281	0	60	1	9.999984e-01	3	106	0	60	2		0	0	0	0	0	2	1	1	52	278	0	60	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ANKRD12	23253	broad.mit.edu	37	18	9255009	9255009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9255009C>T	ENST00000262126.4	+	9	1984	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R559W	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12			65					TGATCTTGTTCGGTATGATAA	0.333000																								0							SO:0001583	missense			ENST00000262126.4	1	1	hg19	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021177	0.54576	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92647	-3.08;-3.08	5.92	4.97	0.65823	.	0.057065	0.64402	D	0.000001	D	0.95984	0.8692	M	0.77820	2.39	0.47778	D	0.999513	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.971	D	0.96146	0.9104	10	0.87932	D	0	-8.2663	17.8287	0.88674	0.1302:0.8698:0.0:0.0	.	209;559;582	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	W	559;582;289	ENSP00000372932:R559W;ENSP00000262126:R582W	ENSP00000262126:R582W	R	+	1	2	ANKRD12	9245009	1.000000	0.71417	0.937000	0.37676	0.988000	0.76386	3.404000	0.52623	2.814000	0.96858	0.585000	0.79938	CGG		TCGA-IB-7651-01A-11D-2154-08	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	1	0	1	61	269	0	97	1	9.961984e-01	4	36	0	97	2		0	0	0	0	0	2	1	1	59	265	0	97	2								-3.127447	1	1	121392	12	43	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TWSG1	57045	broad.mit.edu	37	18	9359999	9359999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9359999C>T	ENST00000262120.5	+	3	344	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TWSG1_ENST00000581641.1_Silent_p.G51G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1			10					CGGGAGAAGGCAATTGCTCCT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000262120.5	1	1	hg19	CCDS11844.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2	1	0	1	75	297	0	83	1	1	26	234	0	83	2		0	0	0	0	0	2	1	1	71	293	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALBP1	10928	broad.mit.edu	37	18	9513171	9513171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9513171G>A	ENST00000019317.4	+	2	351	c.128G>A	c.(127-129)cGc>cAc	p.R43H	RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H			Q15311	RBP1_HUMAN	ralA binding protein 1			14				Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GGATTGTACCGCACTGGCGAG	0.542000																								0							SO:0001583	missense			ENST00000019317.4	1	1	hg19	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800218	0.70567	0.0	1.16E-4	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.11930	2.73;2.73	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	L	0.29908	0.895	0.80722	D	1	B	0.29766	0.256	B	0.24701	0.055	T	0.06285	-1.0835	10	0.48119	T	0.1	-10.9518	18.8686	0.92303	0.0:0.0:1.0:0.0	.	43	Q15311	RBP1_HUMAN	H	43	ENSP00000019317:R43H;ENSP00000372924:R43H	ENSP00000019317:R43H	R	+	2	0	RALBP1	9503171	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.499000	0.97975	2.520000	0.84964	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	1	0	1	55	254	0	57	1	1	69	191	0	57	2		0	0	0	0	0	2	1	1	54	244	0	56	2								-3.404201	1	1	121412	1	29	1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALBP1	10928	broad.mit.edu	37	18	9535870	9535870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9535870C>T	ENST00000019317.4	+	10	2126	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S			Q15311	RBP1_HUMAN	ralA binding protein 1			14				Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TAAAGAGCAGCCAAAGGCAGG	0.657000																								0							SO:0001583	missense			ENST00000019317.4	1	1	hg19	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489420	0.64074	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.09445	2.98;2.98	4.0	4.0	0.46444	.	0.314786	0.27922	N	0.017318	T	0.12475	0.0303	L	0.43152	1.355	0.46749	D	0.999188	B	0.23058	0.079	B	0.21917	0.037	T	0.07731	-1.0757	10	0.59425	D	0.04	-9.5647	16.4737	0.84125	0.0:1.0:0.0:0.0	.	635	Q15311	RBP1_HUMAN	S	635	ENSP00000019317:P635S;ENSP00000372924:P635S	ENSP00000019317:P635S	P	+	1	0	RALBP1	9525870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.200000	0.58433	1.940000	0.56252	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	1	0	1	34	123	0	32	1	1	29	86	0	32	2		0	0	0	0	0	2	1	1	34	123	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP4R1	9989	broad.mit.edu	37	18	9559502	9559502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9559502C>T	ENST00000400556.3	-	14	2016	c.1943G>A	c.(1942-1944)aGc>aAc	p.S648N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1			3					ACCAGGGAGGCTATATGCACA	0.488000													Melanoma(188;1232 2082 5061 11948 35994)											0							SO:0001583	missense			ENST00000400556.3	1	1	hg19	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555564	0.65425	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.33216	1.42;1.42	5.57	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.133058	0.64402	D	0.000003	T	0.38374	0.1038	L	0.43923	1.385	0.53005	D	0.999968	B;D;B	0.54047	0.356;0.964;0.318	B;P;B	0.52031	0.057;0.688;0.122	T	0.08868	-1.0701	9	.	.	.	-13.2938	15.6966	0.77506	0.1379:0.8621:0.0:0.0	.	631;648;631	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	648;631	ENSP00000383402:S648N;ENSP00000383401:S631N	.	S	-	2	0	PPP4R1	9549502	1.000000	0.71417	0.980000	0.43619	0.692000	0.40212	7.487000	0.81328	1.316000	0.45131	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	1	0	1	137	589	0	144	1	1	98	193	0	144	2		0	0	0	0	0	2	1	1	136	583	0	144	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP4R1	9989	broad.mit.edu	37	18	9570435	9570435	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9570435T>G	ENST00000400556.3	-	11	1366	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1			3					GTAACATAGATTTGTAGTTAC	0.418000													Melanoma(188;1232 2082 5061 11948 35994)											0							SO:0001583	missense			ENST00000400556.3	1	1	hg19	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.636570	0.29068	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.19394	2.15;2.15	5.52	-1.54	0.08584	Armadillo-type fold (1);	1.051530	0.07338	N	0.880217	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.37079	-0.9721	9	.	.	.	-2.9067	0.4872	0.00558	0.1767:0.2291:0.2082:0.386	.	414;431;414	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	431;414;342	ENSP00000383402:K431N;ENSP00000383401:K414N	.	K	-	3	2	PPP4R1	9560435	0.000000	0.05858	0.001000	0.08648	0.572000	0.35998	0.382000	0.20635	0.014000	0.14944	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	1	0	1	91	426	0	95	1	1	82	173	0	95	2		0	0	0	0	0	2	1	1	89	424	0	95	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNDC2	84203	broad.mit.edu	37	18	9886595	9886595	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9886595T>C	ENST00000306084.6	+	2	318	c.119T>C	c.(118-120)tTa>tCa	p.L40S	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_5'UTR|TXNDC2_ENST00000536353.2_5'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)			31					GAAAGCTCATTACTAGTCCTG	0.398000																								0							SO:0001583	missense			ENST00000306084.6	1	1	hg19	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.261827	0.23051	.	.	ENSG00000168454	ENST00000306084;ENST00000426718	T	0.16897	2.31	3.99	2.8	0.32819	.	.	.	.	.	T	0.17704	0.0425	L	0.32530	0.975	0.09310	N	0.999997	D	0.62365	0.991	P	0.51297	0.665	T	0.08827	-1.0703	8	.	.	.	-4.0932	6.4832	0.22075	0.0:0.1115:0.0:0.8885	.	40	Q86VQ3	TXND2_HUMAN	S	40	ENSP00000304908:L40S	.	L	+	2	0	TXNDC2	9876595	0.041000	0.20044	0.027000	0.17364	0.031000	0.12232	1.945000	0.40273	0.859000	0.35456	0.460000	0.39030	TTA		TCGA-IB-7651-01A-11D-2154-08	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1	1	0	1	53	215	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	51	211	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNDC2	84203	broad.mit.edu	37	18	9887884	9887884	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9887884C>T	ENST00000306084.6	+	2	1607	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	TXNDC2_ENST00000357775.5_Silent_p.L403L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)			31					CGGGGAGAGGCTGGTGGCTGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000306084.6	1	1	hg19	CCDS42414.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1	1	0	1	48	159	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	46	151	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNDC2	84203	broad.mit.edu	37	18	9888089	9888089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9888089G>A	ENST00000306084.6	+	2	1812	c.1613G>A	c.(1612-1614)tGc>tAc	p.C538Y	TXNDC2_ENST00000357775.5_Missense_Mutation_p.C471Y|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)			31					GATGAACTTTGCGGCGCCCTT	0.418000																								0							SO:0001583	missense			ENST00000306084.6	1	1	hg19	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325117	0.24080	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.13420	2.59;2.59	3.92	0.99	0.19807	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.609210	0.17247	N	0.181337	T	0.14830	0.0358	N	0.08118	0	0.47009	D	0.999282	D	0.71674	0.998	D	0.68943	0.961	T	0.06752	-1.0809	9	.	.	.	-0.0356	11.862	0.52471	0.0:0.595:0.405:0.0	.	538	Q86VQ3	TXND2_HUMAN	Y	336;471;538;523	ENSP00000350419:C471Y;ENSP00000304908:C538Y	.	C	+	2	0	TXNDC2	9878089	0.872000	0.30054	0.681000	0.30009	0.169000	0.22640	0.403000	0.20982	0.193000	0.20303	-0.310000	0.09108	TGC		TCGA-IB-7651-01A-11D-2154-08	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1	1	0	1	23	134	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.999995e-01	23	130	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.988234	0	0.170000	2.060000	1.664574e-01	0.990000	0.990000	1.000000	1.000000	0.999465	0.990000	1	9.900000e-01	1
GRIN3B	116444	broad.mit.edu	37	19	1005022	1005022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005022C>A	ENST00000234389.3	+	3	1541	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B			11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTACGGCGCCCTGCGGGACGG	0.687000																								0							SO:0001583	missense			ENST00000234389.3	1	1	hg19	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297039	0.40594	.	.	ENSG00000116032	ENST00000234389	T	0.54071	0.59	4.53	3.41	0.39046	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.320202	0.31290	N	0.007919	T	0.50548	0.1622	L	0.28556	0.865	0.26560	N	0.973747	D	0.59357	0.985	P	0.59115	0.852	T	0.35649	-0.9780	10	0.52906	T	0.07	.	6.458	0.21940	0.0:0.7768:0.0:0.2232	.	508	O60391	NMD3B_HUMAN	M	508	ENSP00000234389:L508M	ENSP00000234389:L508M	L	+	1	2	GRIN3B	956022	0.995000	0.38212	0.998000	0.56505	0.557000	0.35523	2.531000	0.45650	2.100000	0.63781	0.485000	0.47835	CTG		TCGA-IB-7651-01A-11D-2154-08	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2	1	0	1	59	237	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	1	58	235	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN3B	116444	broad.mit.edu	37	19	1005113	1005113	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005113G>A	ENST00000234389.3	+	3	1632	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B			11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACTCCGCCCGCTCACAGGTG	0.687000																								0							SO:0001583	missense			ENST00000234389.3	0	1	hg19	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263363	0.80358	.	.	ENSG00000116032	ENST00000234389	T	0.70749	-0.51	4.53	4.53	0.55603	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	H	0.96111	3.77	0.47621	D	0.999475	D	0.89917	1.0	D	0.97110	1.0	D	0.92716	0.6187	10	0.87932	D	0	.	15.8728	0.79136	0.0:0.0:1.0:0.0	.	538	O60391	NMD3B_HUMAN	H	538	ENSP00000234389:R538H	ENSP00000234389:R538H	R	+	2	0	GRIN3B	956113	1.000000	0.71417	0.932000	0.37286	0.960000	0.62799	9.675000	0.98638	2.100000	0.63781	0.485000	0.47835	CGC		TCGA-IB-7651-01A-11D-2154-08	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2	0	0	0	6	310	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.650205e-01	6	309	0	43	2								-4.015503	1	0	121362	6	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.250000	0.100000	1.000000	0.230000	0.317423	0.250000	0	1.600000e-01	4.000000e-01
COL5A3	50509	broad.mit.edu	37	19	10081698	10081698	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10081698C>A	ENST00000264828.3	-	53	3920	c.3835G>T	c.(3835-3837)Gat>Tat	p.D1279Y		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3			116			Epithelial(33;7.11e-05)		GGGGAACCATCTATGCCCTGC	0.582000																								0							SO:0001583	missense			ENST00000264828.3	1	1	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259475	0.59321	.	.	ENSG00000080573	ENST00000264828	D	0.94330	-3.4	4.46	4.46	0.54185	.	0.144776	0.44688	D	0.000427	D	0.95121	0.8419	M	0.67517	2.055	0.54753	D	0.999988	D	0.71674	0.998	P	0.60789	0.879	D	0.94502	0.7710	10	0.41790	T	0.15	.	14.6536	0.68817	0.0:1.0:0.0:0.0	.	1279	P25940	CO5A3_HUMAN	Y	1279	ENSP00000264828:D1279Y	ENSP00000264828:D1279Y	D	-	1	0	COL5A3	9942698	0.961000	0.32948	0.041000	0.18516	0.349000	0.29174	4.675000	0.61619	2.306000	0.77630	0.455000	0.32223	GAT		TCGA-IB-7651-01A-11D-2154-08	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1	67	328	0	77	1	9.999336e-01	17	54	0	77	2		0	0	0	0	0	2	1	1	63	315	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A3	50509	broad.mit.edu	37	19	10091784	10091784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10091784C>T	ENST00000264828.3	-	33	2570	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3			116			Epithelial(33;7.11e-05)		CGCTCTCCTTCCAGGCCTGGC	0.522000																								0							SO:0001583	missense			ENST00000264828.3	1	1	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841790	0.51057	.	.	ENSG00000080573	ENST00000264828	D	0.94376	-3.41	4.81	4.81	0.61882	.	0.234079	0.35262	N	0.003334	T	0.76758	0.4032	N	0.00656	-1.285	0.30216	N	0.797247	B	0.29481	0.245	B	0.31946	0.138	T	0.72184	-0.4367	10	0.06494	T	0.89	.	11.3128	0.49375	0.0:0.8155:0.1845:0.0	.	829	P25940	CO5A3_HUMAN	K	829	ENSP00000264828:E829K	ENSP00000264828:E829K	E	-	1	0	COL5A3	9952784	0.751000	0.28327	0.958000	0.39756	0.716000	0.41182	1.691000	0.37721	2.220000	0.72140	0.313000	0.20887	GAA		TCGA-IB-7651-01A-11D-2154-08	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1	80	317	0	82	1	9.999608e-01	25	36	0	82	2		0	0	0	0	0	2	1	1	79	308	0	82	2								-3.665380	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A3	50509	broad.mit.edu	37	19	10100162	10100162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10100162C>T	ENST00000264828.3	-	25	2114	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3			116			Epithelial(33;7.11e-05)		CCATCGGATCCTGGGAGGCCT	0.552000																								0							SO:0001583	missense			ENST00000264828.3	1	1	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179716	0.78564	.	.	ENSG00000080573	ENST00000264828	D	0.98807	-5.15	4.84	4.84	0.62591	.	0.000000	0.64402	U	0.000001	D	0.99429	0.9798	H	0.97440	4.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98300	1.0518	10	0.87932	D	0	.	13.4752	0.61303	0.0:1.0:0.0:0.0	.	677	P25940	CO5A3_HUMAN	R	677	ENSP00000264828:G677R	ENSP00000264828:G677R	G	-	1	0	COL5A3	9961162	1.000000	0.71417	0.985000	0.45067	0.880000	0.50808	6.071000	0.71229	2.250000	0.74265	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1	52	199	0	50	1	9.999993e-01	37	48	0	50	2		0	0	0	0	0	2	1	1	52	193	0	50	2								-3.580189	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A3	50509	broad.mit.edu	37	19	10114292	10114292	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10114292C>A	ENST00000264828.3	-	6	883	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3			116			Epithelial(33;7.11e-05)		TTTCCTTGTTCTTTTTCCTGC	0.577000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000264828.3	1	1	hg19	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	7.743	0.701652	0.15172	.	.	ENSG00000080573	ENST00000264828	D	0.90069	-2.61	4.08	-0.41	0.12374	.	1.705140	0.03235	N	0.179441	D	0.90480	0.7018	L	0.52573	1.65	0.26607	N	0.972915	D	0.71674	0.998	D	0.73708	0.981	T	0.77156	-0.2691	10	0.18276	T	0.48	.	3.327	0.07071	0.0:0.4355:0.2062:0.3584	.	266	P25940	CO5A3_HUMAN	N	266	ENSP00000264828:K266N	ENSP00000264828:K266N	K	-	3	2	COL5A3	9975292	0.995000	0.38212	0.995000	0.50966	0.530000	0.34684	-0.000000	0.12993	0.132000	0.18615	-0.382000	0.06688	AAG		TCGA-IB-7651-01A-11D-2154-08	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1	69	319	0	76	1	9.999998e-01	36	71	0	76	2		0	0	0	0	0	2	1	1	67	306	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RDH8	50700	broad.mit.edu	37	19	10129521	10129521	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10129521T>G	ENST00000171214.1	+	3	626	c.377T>G	c.(376-378)cTt>cGt	p.L126R	RDH8_ENST00000591589.1_Missense_Mutation_p.L146R	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)			21			Epithelial(33;4.24e-05)	Vitamin A(DB00162)	AAAGCTGTGCTTCCAGGCATG	0.607000																								0							SO:0001583	missense			ENST00000171214.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	23.7	4.449839	0.84101	.	.	ENSG00000080511	ENST00000171214	D	0.95035	-3.59	5.34	5.34	0.76211	NAD(P)-binding domain (1);	0.054757	0.64402	D	0.000001	D	0.97779	0.9271	M	0.93550	3.43	0.49582	D	0.999808	D	0.71674	0.998	D	0.79108	0.992	D	0.98708	1.0703	10	0.87932	D	0	.	13.2557	0.60076	0.0:0.0:0.0:1.0	.	126	Q9NYR8	RDH8_HUMAN	R	126	ENSP00000171214:L126R	ENSP00000171214:L126R	L	+	2	0	RDH8	9990521	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.657000	0.83745	2.016000	0.59253	0.402000	0.26972	CTT		TCGA-IB-7651-01A-11D-2154-08	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	126	422	0	91	0	0	0	1	0	91	2		0	0	0	0	0	2	1	1	125	416	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RDH8	50700	broad.mit.edu	37	19	10132384	10132384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10132384C>T	ENST00000171214.1	+	6	1144	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	RDH8_ENST00000591589.1_Silent_p.L319L	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)			21			Epithelial(33;4.24e-05)	Vitamin A(DB00162)	CCTTCAATGTCTGTCCTGCGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000171214.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	67	262	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	64	256	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C19orf66	55337	broad.mit.edu	37	19	10200693	10200693	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10200693C>A	ENST00000253110.11	+	5	652	c.354C>A	c.(352-354)gtC>gtA	p.V118V	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_Silent_p.V67V|C19orf66_ENST00000591813.1_Silent_p.V118V	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66			4					GCGACCACGTCTGGTGGCGCC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000253110.11	0	1	hg19	CCDS45957.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	1	0	0	8	48	0	21	1	1	174	257	0	21	2		0	0	0	0	0	2	1	9.911902e-01	8	48	0	21	2								-15.728830	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.800000	1.000000	1.000000	0.988009	0.990000	1	9.900000e-01	1
ANGPTL6	83854	broad.mit.edu	37	19	10205540	10205540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10205540C>T	ENST00000253109.4	-	3	895	c.657G>A	c.(655-657)atG>atA	p.M219I	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6			12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		CTGGGTCCAGCATCCTACTGG	0.647000																								0							SO:0001583	missense			ENST00000253109.4	1	1	hg19	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	0.417	-0.910153	0.02434	.	.	ENSG00000130812	ENST00000253109	T	0.51071	0.72	4.02	1.81	0.25067	.	4.157180	0.00589	N	0.000341	T	0.27349	0.0671	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20605	-1.0270	10	0.35671	T	0.21	.	2.2278	0.03989	0.204:0.4872:0.1976:0.1112	.	219	Q8NI99	ANGL6_HUMAN	I	219	ENSP00000253109:M219I	ENSP00000253109:M219I	M	-	3	0	ANGPTL6	10066540	0.000000	0.05858	0.253000	0.24343	0.063000	0.16089	0.086000	0.14935	0.988000	0.38734	0.484000	0.47621	ATG		TCGA-IB-7651-01A-11D-2154-08	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	1	0	0	68	270	0	58	0	4.165948e-02	1	1	0	58	2		0	0	0	0	0	2	1	1	65	263	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY11	5032	broad.mit.edu	37	19	10224727	10224727	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10224727C>A	ENST00000321826.4	+	2	622	c.438C>A	c.(436-438)gcC>gcA	p.A146A	PPAN-P2RY11_ENST00000393796.4_Silent_p.A566A|PPAN_ENST00000556468.1_Silent_p.A566A|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11			16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		CCAAGCACGCCTGGGCCGTGA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000321826.4	1	1	hg19	CCDS12226.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	0	0	0	49	333	0	52	1	6.630908e-01	3	14	0	52	2		0	0	0	0	0	2	1	9.995500e-01	49	329	1	50	23								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999926	0.990000	1	9.900000e-01	1
P2RY11	5032	broad.mit.edu	37	19	10225213	10225213	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225213C>T	ENST00000321826.4	+	2	1108	c.924C>T	c.(922-924)ggC>ggT	p.G308G	PPAN-P2RY11_ENST00000393796.4_Silent_p.G728G|PPAN_ENST00000556468.1_Silent_p.G728G|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11			16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		TGATGCGGGGCCTCATGCCCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000321826.4	1	1	hg19	CCDS12226.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	0	0	0	68	352	0	63	1	9.955489e-01	7	38	0	63	2		0	0	0	0	0	2	1	1	67	348	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY11	5032	broad.mit.edu	37	19	10225276	10225276	+	Silent	SNP	C	C	T	rs143410132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225276C>T	ENST00000321826.4	+	2	1171	c.987C>T	c.(985-987)ggC>ggT	p.G329G	PPAN-P2RY11_ENST00000393796.4_Silent_p.G749G|PPAN_ENST00000556468.1_Silent_p.G749G|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11			16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		CCAGCCTGGGCTGCTGCTGCC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000321826.4	1	1	hg19	CCDS12226.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	0	0	0	72	368	0	64	1	9.969969e-01	7	40	0	64	2		0	0	0	0	0	2	1	1	72	364	0	64	2								-20.000000	1	0	121404	1	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNMT1	1786	broad.mit.edu	37	19	10270737	10270737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10270737G>A	ENST00000340748.4	-	14	1233	c.998C>T	c.(997-999)aCg>aTg	p.T333M	DNMT1_ENST00000359526.4_Missense_Mutation_p.T349M|DNMT1_ENST00000540357.1_Missense_Mutation_p.T333M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1			70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTTTTTCTCCGTTCTGGGGGA	0.493000																								0							SO:0001583	missense			ENST00000340748.4	1	0	hg19	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419248	0.25552	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.80824	-1.42;1.4;1.4	4.2	-3.26	0.05064	.	1.842200	0.02527	N	0.093187	T	0.64832	0.2634	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.09377	0.004;0.004;0.002	T	0.50171	-0.8859	10	0.48119	T	0.1	.	3.1146	0.06370	0.3659:0.0:0.3289:0.3052	.	333;349;333	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	349;333;333;201	ENSP00000352516:T349M;ENSP00000440457:T333M;ENSP00000345739:T333M	ENSP00000345739:T333M	T	-	2	0	DNMT1	10131737	0.000000	0.05858	0.000000	0.03702	0.272000	0.26649	-1.764000	0.01800	-0.456000	0.07043	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	1	0	0	36	756	0	120	1	9.618731e-01	5	108	0	120	2		0	0	0	0	0	2	1	1	31	684	0	107	2								-4.714583	1	1	120758	2	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.550000	0.380000	1.000000	0.540000	0.586081	0.550000	0	4.600000e-01	6.700000e-01
CNN2	1265	broad.mit.edu	37	19	1032601	1032601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1032601G>A	ENST00000263097.4	+	4	659	c.296G>A	c.(295-297)gGc>gAc	p.G99D	CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.G99D|CNN2_ENST00000565096.2_Missense_Mutation_p.G99D	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2			10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GTCAGCTACGGCATGAACCCT	0.577000																								0							SO:0001583	missense			ENST00000263097.4	1	1	hg19	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339530	0.81911	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.67171	-0.25;-0.25	4.05	4.05	0.47172	Calponin homology domain (5);	0.000000	0.85682	U	0.000000	D	0.86636	0.5980	H	0.96301	3.8	0.54753	D	0.999987	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.99;0.998;0.996;0.991;0.996	D	0.90803	0.4695	10	0.87932	D	0	.	13.759	0.62954	0.0:0.0:1.0:0.0	.	99;99;99;99;99	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	D	99;99;78	ENSP00000263097:G99D;ENSP00000340129:G99D	ENSP00000263097:G99D	G	+	2	0	CNN2	983601	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.068000	0.93961	1.827000	0.53221	0.306000	0.20318	GGC		TCGA-IB-7651-01A-11D-2154-08	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	1	0	1	51	237	0	72	1	1	158	499	0	72	2		0	0	0	0	0	2	1	1	50	231	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ICAM1	3383	broad.mit.edu	37	19	10385700	10385700	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10385700G>A	ENST00000264832.3	+	2	652	c.327G>A	c.(325-327)gtG>gtA	p.V109V	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1			14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)	Hyaluronan(DB08818)|Natalizumab(DB00108)	TCCTCACCGTGTACTGTGAGT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000264832.3	1	1	hg19	CCDS12231.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1	0	0	1	21	583	1	160	1	7.823199e-01	36	325	1	160	10		0	0	0	0	0	2	1	9.090578e-01	21	576	1	160	14								-3.699280	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.420000	0.260000	1.000000	0.400000	0.473743	0.420000	0	3.300000e-01	5.500000e-01
ICAM1	3383	broad.mit.edu	37	19	10394718	10394718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10394718C>T	ENST00000264832.3	+	4	972	c.647C>T	c.(646-648)gCg>gTg	p.A216V	ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1			14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)	Hyaluronan(DB08818)|Natalizumab(DB00108)	GTCCTGCCAGCGACTCCCCCA	0.627000																								0							SO:0001583	missense			ENST00000264832.3	0	1	hg19	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	7.370	0.626659	0.14257	.	.	ENSG00000090339	ENST00000264832	T	0.03386	3.95	4.18	-8.36	0.00980	Immunoglobulin-like fold (1);	13.567900	0.00633	N	0.000497	T	0.01421	0.0046	N	0.01705	-0.755	0.09310	N	0.999998	B	0.13594	0.008	B	0.06405	0.002	T	0.43750	-0.9372	10	0.27082	T	0.32	-0.6359	5.1923	0.15216	0.5147:0.1608:0.0:0.3245	.	216	P05362	ICAM1_HUMAN	V	216	ENSP00000264832:A216V	ENSP00000264832:A216V	A	+	2	0	ICAM1	10255718	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.777000	0.00775	-2.479000	0.00524	0.511000	0.50034	GCG		TCGA-IB-7651-01A-11D-2154-08	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1	0	0	0	9	577	0	122	1	9.825748e-01	3	447	0	122	2		0	0	0	0	0	2	1	9.936092e-01	9	563	0	121	2								-2.724437	1	0	121412	10	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.190000	0.090000	1.000000	0.180000	0.264889	0.190000	0	1.300000e-01	2.900000e-01
ICAM1	3383	broad.mit.edu	37	19	10395085	10395085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10395085C>T	ENST00000264832.3	+	5	1257	c.932C>T	c.(931-933)cCg>cTg	p.P311L	ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	p.P311L(1)		14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)	Hyaluronan(DB08818)|Natalizumab(DB00108)	CCAGGCTTTCCGGCGCCCAAC	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264832.3	1	1	hg19	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645558	0.29246	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.16743	2.32;2.32	4.1	0.43	0.16515	Immunoglobulin-like fold (1);	0.337248	0.21388	N	0.075359	T	0.27098	0.0664	L	0.58428	1.81	0.09310	N	0.999999	D;P	0.89917	1.0;0.777	D;B	0.77557	0.99;0.141	T	0.13683	-1.0500	10	0.21540	T	0.41	-13.2516	4.4224	0.11486	0.3955:0.4935:0.0:0.111	.	89;311	E7ESS4;P05362	.;ICAM1_HUMAN	L	311;89	ENSP00000264832:P311L;ENSP00000413124:P89L	ENSP00000264832:P311L	P	+	2	0	ICAM1	10256085	0.209000	0.23505	0.025000	0.17156	0.014000	0.08584	0.929000	0.28844	0.079000	0.16929	0.407000	0.27541	CCG		TCGA-IB-7651-01A-11D-2154-08	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1	1	0	1	98	398	0	109	1	1	98	243	0	109	2		0	0	0	0	0	2	1	1	95	390	0	109	2								-2.869656	1	1	121330	4	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ICAM5	7087	broad.mit.edu	37	19	10402269	10402269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10402269C>T	ENST00000221980.4	+	3	520	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin			21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		CCGTGCGAGCCTCACGCTGAC	0.721000																								0							SO:0001583	missense			ENST00000221980.4	1	1	hg19	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.873232	0.91664	.	.	ENSG00000105376	ENST00000221980	T	0.07327	3.2	5.5	5.5	0.81552	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.30355	0.0762	M	0.78916	2.43	0.36512	D	0.869632	D	0.89917	1.0	D	0.97110	1.0	T	0.18840	-1.0324	10	0.66056	D	0.02	-29.093	14.9435	0.71012	0.0:1.0:0.0:0.0	.	153	Q9UMF0	ICAM5_HUMAN	F	153	ENSP00000221980:L153F	ENSP00000221980:L153F	L	+	1	0	ICAM5	10263269	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.566000	0.45948	2.602000	0.87976	0.466000	0.42574	CTC		TCGA-IB-7651-01A-11D-2154-08	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	1	0	0	31	604	0	104	0	2.590254e-03	0	2	0	104	2		0	0	0	0	0	2	1	1	31	600	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.590000	0.400000	1.000000	0.570000	0.624695	0.590000	0	4.900000e-01	7.400000e-01
ICAM5	7087	broad.mit.edu	37	19	10404950	10404950	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10404950A>G	ENST00000221980.4	+	8	2009	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin			21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		AACGCCACCAACCGCCACGGC	0.682000																								0							SO:0001583	missense			ENST00000221980.4	1	1	hg19	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	5.854	0.341696	0.11069	.	.	ENSG00000105376	ENST00000221980	T	0.60920	0.15	5.21	4.2	0.49525	Immunoglobulin-like fold (1);	0.235251	0.29900	N	0.010901	T	0.41834	0.1176	L	0.38175	1.15	0.31734	N	0.636686	P	0.36027	0.533	B	0.34536	0.185	T	0.49643	-0.8918	10	0.30078	T	0.28	-20.9295	6.936	0.24466	0.8984:0.0:0.1016:0.0	.	649	Q9UMF0	ICAM5_HUMAN	S	649	ENSP00000221980:N649S	ENSP00000221980:N649S	N	+	2	0	ICAM5	10265950	0.988000	0.35896	0.932000	0.37286	0.077000	0.17291	3.046000	0.49846	1.968000	0.57251	0.448000	0.29417	AAC		TCGA-IB-7651-01A-11D-2154-08	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	0	0	0	54	1574	0	277	0	1.940975e-01	1	23	0	277	2		0	0	0	0	0	2	1	1	53	1562	0	270	2								-2.489512	0	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.390000	0.290000	1.000000	0.400000	0.447806	0.390000	0	3.400000e-01	4.700000e-01
ICAM5	7087	broad.mit.edu	37	19	10406086	10406086	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10406086C>T	ENST00000221980.4	+	10	2358	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin			21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		GAGGAAACTTCACGTTGACCT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000221980.4	1	1	hg19	CCDS12233.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	1	0	0	10	129	0	29	1	1.841069e-01	3	7	0	29	2		0	0	0	0	0	2	1	9.968916e-01	9	127	0	29	2								-14.694350	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.890000	0.450000	1.000000	1.000000	0.847230	0.890000	1	6.400000e-01	1
ABCA7	10347	broad.mit.edu	37	19	1041388	1041388	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1041388C>T	ENST00000263094.6	+	2	259	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	ABCA7_ENST00000433129.1_Silent_p.L10L|ABCA7_ENST00000435683.2_5'Flank|AC011558.5_ENST00000585757.1_RNA	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7			65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GCTGATGCTGCTGCTCTGGAA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000263094.6	1	1	hg19	CCDS12055.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	0	128	581	0	144	1	8.800674e-01	6	13	0	144	2		0	0	0	0	0	2	1	1	126	570	0	140	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA7	10347	broad.mit.edu	37	19	1042089	1042089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1042089G>A	ENST00000263094.6	+	5	560	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7			65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GCCGATGCCCGCACTGTGCTG	0.726000																								0							SO:0001583	missense			ENST00000263094.6	0	1	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784331	0.31593	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	3.47	-6.85	0.01681	.	.	.	.	.	T	0.27765	0.0683	N	0.20986	0.625	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.15752	-1.0426	9	0.39692	T	0.17	.	1.6592	0.02787	0.4479:0.1362:0.2784:0.1375	.	110;110	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	H	110;110;108;110	ENSP00000263094:R110H;ENSP00000431473:R110H;ENSP00000433545:R108H;ENSP00000414062:R110H	ENSP00000263094:R110H	R	+	2	0	ABCA7	993089	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.244000	0.02902	-1.205000	0.02645	-1.157000	0.01802	CGC		TCGA-IB-7651-01A-11D-2154-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	1	17	97	0	13	1	6.035246e-01	4	9	0	13	2		0	0	0	0	0	2	1	9.999765e-01	17	97	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998923	0.990000	1	9.900000e-01	1
ABCA7	10347	broad.mit.edu	37	19	1043053	1043053	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043053G>A	ENST00000263094.6	+	8	824	c.593G>A	c.(592-594)cGc>cAc	p.R198H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	p.R198L(1)		65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			CTGGCGCTGCGCAGCCTGGTG	0.667000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000263094.6	1	1	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	5.419	0.262452	0.10294	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86562	-2.14;-2.14	4.1	1.92	0.25849	.	.	.	.	.	T	0.69566	0.3125	N	0.08118	0	0.18873	N	0.999986	B;B	0.33904	0.0;0.431	B;B	0.22152	0.0;0.038	T	0.59521	-0.7439	9	0.48119	T	0.1	.	7.3426	0.26646	0.1915:0.6197:0.1888:0.0	.	60;198	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	H	198	ENSP00000263094:R198H;ENSP00000414062:R198H	ENSP00000263094:R198H	R	+	2	0	ABCA7	994053	0.000000	0.05858	0.978000	0.43139	0.001000	0.01503	0.628000	0.24522	0.344000	0.23847	-1.964000	0.00472	CGC		TCGA-IB-7651-01A-11D-2154-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	1	40	238	0	51	1	8.751942e-01	4	20	0	51	2		0	0	0	0	0	2	1	1	40	234	0	51	2								-20.000000	1	1	121328	3	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
ABCA7	10347	broad.mit.edu	37	19	1043394	1043394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043394G>A	ENST00000263094.6	+	9	1083	c.852G>A	c.(850-852)tgG>tgA	p.W284*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W284*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W146*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7			65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GCCTGCTCTGGAGACGCCTGA	0.662000																								0							SO:0001587	stop_gained			ENST00000263094.6	0	1	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	36	5.790066	0.96945	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	.	.	.	X	284	.	ENSP00000263094:W284X	W	+	3	0	ABCA7	994394	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.221000	0.78016	1.937000	0.56155	0.313000	0.20887	TGG		TCGA-IB-7651-01A-11D-2154-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	0	0	0	14	654	0	113	1	1.395833e-01	2	27	0	113	2		0	0	0	0	0	2	1	9.997129e-01	14	639	0	111	2								-4.227557	1	0	121400	25	47	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.260000	0.140000	1.000000	0.250000	0.323341	0.260000	0	1.900000e-01	3.600000e-01
RAVER1	125950	broad.mit.edu	37	19	10434065	10434065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10434065C>T	ENST00000293677.6	-	4	1066	c.985G>A	c.(985-987)Gct>Act	p.A329T	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1			18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		GCCTGGGCAGCGATGAGAGCG	0.721000																								0							SO:0001583	missense			ENST00000293677.6	0	1	hg19	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554745	0.65425	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.13089	2.62	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.12050	0.0293	L	0.53249	1.67	0.50171	D	0.999859	P	0.37441	0.595	B	0.19148	0.024	T	0.09164	-1.0687	10	0.33141	T	0.24	-8.3268	14.9961	0.71433	0.0:1.0:0.0:0.0	.	329	E9PAU2	.	T	329;312	ENSP00000293677:A329T	ENSP00000293677:A329T	A	-	1	0	RAVER1	10295065	1.000000	0.71417	0.995000	0.50966	0.880000	0.50808	7.279000	0.78599	2.142000	0.66516	0.511000	0.50034	GCT		TCGA-IB-7651-01A-11D-2154-08	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	1	0	1	13	100	0	19	1	9.533416e-01	2	41	0	19	2		0	0	0	0	0	2	1	9.995958e-01	13	98	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.780000	1.000000	1.000000	0.984776	0.990000	1	9.900000e-01	1
ABCA7	10347	broad.mit.edu	37	19	1043455	1043455	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043455C>T	ENST00000263094.6	+	9	1144	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7			65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			ACCTTTTACCCGGAAGCTCAT	0.652000																								0							SO:0001583	missense			ENST00000263094.6	1	1	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394187	0.42410	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86164	-2.08;-2.08	4.18	-1.11	0.09840	.	.	.	.	.	D	0.91016	0.7174	M	0.75777	2.31	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.81551	-0.0881	9	0.87932	D	0	.	6.6097	0.22745	0.4667:0.4442:0.0:0.0892	.	167;305	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	W	305	ENSP00000263094:R305W;ENSP00000414062:R305W	ENSP00000263094:R305W	R	+	1	2	ABCA7	994455	0.000000	0.05858	0.274000	0.24659	0.527000	0.34593	-0.337000	0.07852	-0.442000	0.07190	-0.671000	0.03813	CGG		TCGA-IB-7651-01A-11D-2154-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	0	34	828	0	158	1	2.540827e-01	2	22	0	158	2		0	0	0	0	0	2	1	1	32	813	0	158	2								-2.424718	0	0	121394	2	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.330000	1.000000	0.460000	0.520267	0.470000	0	3.900000e-01	5.900000e-01
ICAM3	3385	broad.mit.edu	37	19	10444592	10444592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444592G>A	ENST00000160262.5	-	7	1793	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	ICAM3_ENST00000589261.1_Missense_Mutation_p.P452S|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3			13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		GACGTGAGGGGCAGATAGGTG	0.587000																								0							SO:0001583	missense			ENST00000160262.5	1	1	hg19	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822346	0.71028	.	.	ENSG00000076662	ENST00000160262	T	0.02421	4.3	4.48	2.34	0.29019	.	0.722845	0.11948	N	0.513942	T	0.02193	0.0068	L	0.27053	0.805	0.22489	N	0.999056	B	0.33528	0.416	B	0.25884	0.064	T	0.46652	-0.9176	10	0.62326	D	0.03	-9.2889	6.0761	0.19915	0.2378:0.0:0.7622:0.0	.	529	P32942	ICAM3_HUMAN	S	529	ENSP00000160262:P529S	ENSP00000160262:P529S	P	-	1	0	ICAM3	10305592	0.839000	0.29477	0.732000	0.30844	0.568000	0.35870	0.518000	0.22847	0.601000	0.29879	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1	0	0	0	62	672	1	165	1	9.968972e-01	13	168	1	165	6		0	0	0	0	0	2	1	1	61	660	1	163	16								-15.315900	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.780000	1.000000	1.000000	0.959652	0.990000	1	8.800000e-01	1
ICAM3	3385	broad.mit.edu	37	19	10444960	10444960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444960G>A	ENST00000160262.5	-	6	1525	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	ICAM3_ENST00000589261.1_Silent_p.G362G|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3			13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		CCCGGCTGGAGCCTTCCTTCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000160262.5	0	1	hg19	CCDS12235.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1	0	0	0	9	412	0	55	1	9.332092e-01	10	208	0	55	2		0	0	0	0	0	2	1	9.938101e-01	9	404	0	55	2								-8.376347	1	1	121412	2	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.270000	0.120000	1.000000	0.250000	0.335857	0.270000	0	1.900000e-01	4.000000e-01
ABCA7	10347	broad.mit.edu	37	19	1045210	1045210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1045210G>A	ENST00000263094.6	+	12	1656	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	ABCA7_ENST00000433129.1_Silent_p.R475R|ABCA7_ENST00000435683.2_Silent_p.R337R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7			65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			TGGTCACGAGGACCAATAAGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000263094.6	0	1	hg19	CCDS12055.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	0	0	0	10	329	0	59	0	1.495934e-01	1	20	0	59	2		0	0	0	0	0	2	1	9.967542e-01	10	324	0	59	2								-10.611760	1	1	121126	3	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.370000	0.180000	1.000000	0.340000	0.427858	0.370000	0	2.600000e-01	5.400000e-01
ABCA7	10347	broad.mit.edu	37	19	1046243	1046243	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046243G>A	ENST00000263094.6	+	13	1691	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7			65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			TGGGACCCTGGCCCAGCCGCG	0.657000																								0							SO:0001583	missense			ENST00000263094.6	1	1	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.234844	0.58886	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97959	-4.63;-4.63	4.95	4.95	0.65309	.	.	.	.	.	D	0.98280	0.9430	M	0.62154	1.92	0.45194	D	0.998207	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.831	D	0.99556	1.0967	9	0.87932	D	0	.	15.6578	0.77155	0.0:0.0:1.0:0.0	.	349;487	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	D	487	ENSP00000263094:G487D;ENSP00000414062:G487D	ENSP00000263094:G487D	G	+	2	0	ABCA7	997243	1.000000	0.71417	0.026000	0.17262	0.020000	0.10135	9.650000	0.98490	2.294000	0.77228	0.556000	0.70494	GGC		TCGA-IB-7651-01A-11D-2154-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	0	50	1147	0	204	1	1.932225e-01	2	17	0	204	2		0	0	0	0	0	2	1	1	49	1132	0	200	2								-4.488385	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.500000	0.370000	1.000000	0.500000	0.542942	0.500000	0	4.300000e-01	6.000000e-01
ABCA7	10347	broad.mit.edu	37	19	1046403	1046403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046403C>T	ENST00000263094.6	+	13	1851	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000435683.2_Silent_p.D402D|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7			65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			ATGTGGACGACGTGTGAGCTC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000263094.6	1	1	hg19	CCDS12055.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	1	0	0	127	1422	0	226	1	2.917350e-01	2	11	0	226	2		0	0	0	0	0	2	1	1	125	1412	0	226	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.970000	0.810000	1.000000	1.000000	0.957215	0.970000	1	8.900000e-01	1
TYK2	7297	broad.mit.edu	37	19	10472585	10472585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10472585C>T	ENST00000525621.1	-	13	2301	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	TYK2_ENST00000529370.1_Missense_Mutation_p.R607H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H|TYK2_ENST00000524462.1_Missense_Mutation_p.R422H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2			64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		CACTCGCAGGCGGCCCTCATA	0.632000																								0							SO:0001583	missense			ENST00000525621.1	1	1	hg19	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	7.847	0.723072	0.15439	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.93	1.56	0.23342	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.821987	0.10076	N	0.719098	T	0.17023	0.0409	L	0.43701	1.375	0.09310	N	1	B;B	0.27498	0.18;0.018	B;B	0.20767	0.031;0.015	T	0.32455	-0.9906	10	0.16896	T	0.51	-11.9141	4.2795	0.10825	0.4233:0.397:0.1797:0.0	.	607;607	E9PPF2;P29597	.;TYK2_HUMAN	H	422;607;607;354;607	ENSP00000433203:R422H;ENSP00000431885:R607H;ENSP00000264818:R607H;ENSP00000432728:R607H	ENSP00000264818:R607H	R	-	2	0	TYK2	10333585	0.000000	0.05858	0.010000	0.14722	0.044000	0.14063	0.676000	0.25247	0.218000	0.20820	-0.397000	0.06425	CGC		TCGA-IB-7651-01A-11D-2154-08	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1	1	0	1	111	480	0	107	1	1	46	111	0	107	2		0	0	0	0	0	2	1	1	108	472	0	106	2								-20.000000	1	1	121412	6	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC37	11140	broad.mit.edu	37	19	10505909	10505909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10505909C>A	ENST00000222005.2	-	4	651	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37			16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)		CTCACCTCCTCCACCTCTAGG	0.567000																								0							SO:0001587	stop_gained			ENST00000222005.2	0	1	hg19	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	37	6.103354	0.97286	.	.	ENSG00000105401	ENST00000222005	.	.	.	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.992	0.64372	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000222005:E200X	E	-	1	0	CDC37	10366909	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.011000	0.76359	1.948000	0.56530	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	1	0	0	91	982	0	213	1	1	5	915	0	213	2		0	0	0	0	0	2	1	1	88	962	0	212	2								-19.774830	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.810000	1.000000	1.000000	0.967950	0.990000	1	9.100000e-01	1
CDC37	11140	broad.mit.edu	37	19	10506754	10506754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10506754G>A	ENST00000222005.2	-	2	281	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37			16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)		CTGCCTTGCCGCCCTCGGCCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000222005.2	1	1	hg19	CCDS12237.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	1	0	0	200	812	0	127	1	1	173	622	0	127	2		0	0	0	0	0	2	1	1	195	797	0	122	2								-3.325642	1	1	121412	1	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE4A	5141	broad.mit.edu	37	19	10572664	10572664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10572664G>A	ENST00000352831.6	+	13	1842	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N|PDE4A_ENST00000380702.2_Missense_Mutation_p.D556N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific			27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)	Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TAACTACTCCGACCGCATCCA	0.587000																								0							SO:0001583	missense			ENST00000352831.6	1	1	hg19	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271568	0.95429	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.49	4.49	0.54785	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.62016	1.91	0.80722	D	1	P;D;D;D;D	0.89917	0.865;1.0;1.0;1.0;1.0	B;D;D;D;D	0.80764	0.268;0.979;0.994;0.986;0.992	T	0.81560	-0.0877	10	0.45353	T	0.12	.	14.6592	0.68858	0.0:0.0:1.0:0.0	.	244;339;517;552;578	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	N	20;556;578;552;517;339;244	ENSP00000370078:D556N;ENSP00000270474:D578N;ENSP00000293683:D552N;ENSP00000394754:D517N;ENSP00000341007:D339N	ENSP00000293683:D552N	D	+	1	0	PDE4A	10433664	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.697000	0.98697	2.062000	0.61559	0.484000	0.47621	GAC		TCGA-IB-7651-01A-11D-2154-08	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1	1	0	1	72	477	0	106	1	9.999926e-01	26	87	0	106	2		0	0	0	0	0	2	1	1	71	463	0	105	2								-3.318800	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PDE4A	5141	broad.mit.edu	37	19	10578270	10578270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10578270C>T	ENST00000352831.6	+	15	2744	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000592685.1_Silent_p.G856G|PDE4A_ENST00000344979.3_Silent_p.G639G|PDE4A_ENST00000380702.2_Silent_p.G856G	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific			27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)	Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTCCTGGTGGCGGGGGGTCAG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000352831.6	1	1	hg19	CCDS45961.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1	1	0	1	73	404	0	73	1	9.999938e-01	21	76	0	73	2		0	0	0	0	0	2	1	1	71	384	0	64	2								-2.404386	0	1	119682	3	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KEAP1	9817	broad.mit.edu	37	19	10599948	10599948	+	Missense_Mutation	SNP	G	G	A	rs111830952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10599948G>A	ENST00000171111.5	-	5	2175	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1			92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)	Dimethyl fumarate(DB08908)	GAAAGTCCACGTCTCTGTTTC	0.602000																								0							SO:0001583	missense			ENST00000171111.5	1	1	hg19	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858697	0.17178	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80393	-1.37;-1.37	5.73	2.31	0.28768	Kelch-type beta propeller (1);	0.704760	0.14924	N	0.290506	T	0.76198	0.3954	M	0.80746	2.51	0.09310	N	1	P	0.47034	0.889	B	0.40825	0.341	T	0.69316	-0.5177	10	0.48119	T	0.1	.	2.3283	0.04228	0.1659:0.1499:0.5294:0.1548	.	543	Q14145	KEAP1_HUMAN	M	543	ENSP00000171111:T543M;ENSP00000377245:T543M	ENSP00000171111:T543M	T	-	2	0	KEAP1	10460948	0.001000	0.12720	0.004000	0.12327	0.055000	0.15305	0.984000	0.29565	0.805000	0.34159	-0.225000	0.12378	ACG		TCGA-IB-7651-01A-11D-2154-08	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	1	0	1	28	166	0	37	1	1	60	353	0	37	2		0	0	0	0	0	2	1	1	27	163	0	36	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999829	0.990000	1	9.900000e-01	1
S1PR5	53637	broad.mit.edu	37	19	10625429	10625429	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10625429C>T	ENST00000439028.3	-	2	384	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5			12				Fingolimod(DB08868)	GCGTAGGCGGCGCCTGCCAGC	0.662000																								0							SO:0001583	missense			ENST00000439028.3	1	1	hg19	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	c	18.29	3.591210	0.66219	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.35973	1.28;1.28	4.14	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.527108	0.17544	N	0.170432	T	0.25344	0.0616	N	0.20986	0.625	0.28383	N	0.919465	P	0.48407	0.91	B	0.42798	0.398	T	0.05099	-1.0906	10	0.33141	T	0.24	.	10.8097	0.46540	0.0:0.9041:0.0:0.0959	.	87	Q9H228	S1PR5_HUMAN	T	87	ENSP00000416915:A87T;ENSP00000328472:A87T	ENSP00000328472:A87T	A	-	1	0	S1PR5	10486429	0.010000	0.17322	0.974000	0.42286	0.462000	0.32619	0.594000	0.24014	0.947000	0.37659	0.306000	0.20318	GCC		TCGA-IB-7651-01A-11D-2154-08	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	1	0	1	17	112	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	9.999768e-01	17	112	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.960000	1.000000	1.000000	0.996825	0.990000	1	9.900000e-01	1
ATG4D	84971	broad.mit.edu	37	19	10657740	10657740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10657740G>A	ENST00000309469.4	+	4	892	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase			19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		CAGAGCTCAGGCAAGAAGGCA	0.657000																								0							SO:0001583	missense			ENST00000309469.4	0	1	hg19	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156656	0.94686	.	.	ENSG00000130734	ENST00000309469	T	0.51325	0.71	5.35	5.35	0.76521	.	0.105878	0.64402	D	0.000005	T	0.68696	0.3029	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.994	D;D;D	0.97110	0.951;1.0;0.968	T	0.69131	-0.5226	10	0.48119	T	0.1	-33.1185	17.8112	0.88616	0.0:0.0:1.0:0.0	.	177;263;240	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	D	240	ENSP00000311318:G240D	ENSP00000311318:G240D	G	+	2	0	ATG4D	10518740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.366000	0.73095	2.498000	0.84270	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	1	0	0	10	45	0	8	1	9.963634e-01	18	32	0	8	2		0	0	0	0	0	2	1	9.977818e-01	10	45	0	8	2								-19.333910	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997875	0.990000	1	9.900000e-01	1
KRI1	65095	broad.mit.edu	37	19	10672384	10672384	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10672384C>T	ENST00000312962.6	-	6	484	c.465G>A	c.(463-465)tcG>tcA	p.S155S	KRI1_ENST00000361821.5_Silent_p.S151S|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)			26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		AACTTTGCGACGATGTCTCCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000312962.6	1	1	hg19	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	2.214	-0.379965	0.05000	.	.	ENSG00000129347	ENST00000543682	.	.	.	3.7	-2.84	0.05751	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-2.2623	5.8817	0.18858	0.0:0.4384:0.2387:0.3229	.	.	.	.	H	93	.	.	R	-	2	0	KRI1	10533384	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.565000	0.00918	-0.676000	0.05238	-2.893000	0.00094	CGT		TCGA-IB-7651-01A-11D-2154-08	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	1	0	1	180	729	0	189	1	1	26	97	0	189	2		0	0	0	0	0	2	1	1	176	713	0	188	2								-20.000000	1	0	121412	1	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMHA1	23526	broad.mit.edu	37	19	1068512	1068512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1068512C>T	ENST00000313093.2	+	2	421	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	HMHA1_ENST00000590214.1_Missense_Mutation_p.R91W|HMHA1_ENST00000539243.2_Missense_Mutation_p.R80W|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000586866.1_Missense_Mutation_p.R68W	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1			16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GACCCTCAAGCGGCCCACCAG	0.731000																								0							SO:0001583	missense			ENST00000313093.2	0	1	hg19	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754701	0.49362	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039	T;T	0.32988	1.43;1.43	4.2	0.564	0.17302	.	0.000000	0.64402	D	0.000001	T	0.51856	0.1699	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54227	-0.8325	10	0.87932	D	0	-29.3359	12.4539	0.55693	0.6368:0.3632:0.0:0.0	.	80;64	F6QP70;Q92619	.;HMHA1_HUMAN	W	80;64;64;58	ENSP00000439601:R80W;ENSP00000316772:R64W	ENSP00000316772:R64W	R	+	1	2	HMHA1	1019512	1.000000	0.71417	0.796000	0.32109	0.227000	0.25037	0.765000	0.26546	-0.008000	0.14320	0.549000	0.68633	CGG		TCGA-IB-7651-01A-11D-2154-08	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	0	9	87	0	9	0	1.133787e-02	0	2	0	9	2		0	0	0	0	0	2	1	9.928658e-01	8	81	0	9	2								-15.374770	1	1	116990	1	19	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.570000	1.000000	1.000000	0.937706	0.990000	1	8.200000e-01	1
HMHA1	23526	broad.mit.edu	37	19	1073559	1073559	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073559T>C	ENST00000313093.2	+	4	851	c.620T>C	c.(619-621)cTg>cCg	p.L207P	HMHA1_ENST00000590214.1_Missense_Mutation_p.L234P|HMHA1_ENST00000539243.2_Missense_Mutation_p.L223P|HMHA1_ENST00000543365.1_Missense_Mutation_p.L90P|HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1			16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GAGAAGGCCCTGGAGACGATT	0.602000																								0							SO:0001583	missense			ENST00000313093.2	0	1	hg19	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372450	0.61624	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.25414	1.8;1.84;1.88;1.8	4.24	4.24	0.50183	.	0.095832	0.46145	D	0.000309	T	0.47948	0.1473	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.996	D;D;D;P	0.73708	0.981;0.914;0.974;0.823	T	0.51647	-0.8679	10	0.87932	D	0	-19.7701	12.1537	0.54064	0.0:0.0:0.0:1.0	.	47;223;90;207	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	P	223;207;207;47;201;90	ENSP00000439601:L223P;ENSP00000316772:L207P;ENSP00000445109:L47P;ENSP00000438979:L90P	ENSP00000316772:L207P	L	+	2	0	HMHA1	1024559	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.423000	0.80229	1.540000	0.49301	0.402000	0.26972	CTG		TCGA-IB-7651-01A-11D-2154-08	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	0	0	0	5	186	0	41	0	4.150997e-01	0	47	0	41	2		0	0	0	0	0	2	1	9.348494e-01	5	182	0	40	2								-7.035544	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.350000	0.130000	1.000000	0.300000	0.411661	0.350000	0	2.200000e-01	5.700000e-01
HMHA1	23526	broad.mit.edu	37	19	1073969	1073969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073969C>T	ENST00000313093.2	+	6	977	c.746C>T	c.(745-747)cCg>cTg	p.P249L	HMHA1_ENST00000590214.1_Missense_Mutation_p.P276L|HMHA1_ENST00000539243.2_Missense_Mutation_p.P265L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P132L|HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1			16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			CTGTATGGACCGGGCAGTGAG	0.677000																								0							SO:0001583	missense			ENST00000313093.2	0	1	hg19	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	8.933	0.963844	0.18583	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.21031	2.04;2.06;2.09;2.03	3.79	-5.7	0.02421	.	2.021690	0.02590	N	0.099859	T	0.12689	0.0308	L	0.31926	0.97	0.09310	N	1	B;P;B;B	0.34864	0.052;0.473;0.344;0.226	B;B;B;B	0.25614	0.012;0.062;0.039;0.028	T	0.21449	-1.0245	10	0.28530	T	0.3	-0.0795	8.0782	0.30729	0.5429:0.3739:0.0:0.0831	.	89;265;132;249	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	L	265;249;249;89;243;132	ENSP00000439601:P265L;ENSP00000316772:P249L;ENSP00000445109:P89L;ENSP00000438979:P132L	ENSP00000316772:P249L	P	+	2	0	HMHA1	1024969	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.461000	0.06712	-0.701000	0.05063	0.491000	0.48974	CCG		TCGA-IB-7651-01A-11D-2154-08	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	0	0	0	3	58	0	13	0	6.436384e-01	1	38	0	13	2		0	0	0	0	0	2	1	8.125641e-01	3	58	0	13	2								-7.248338	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.680000	0.190000	1.000000	1.000000	0.683108	0.680000	0	3.800000e-01	1
HMHA1	23526	broad.mit.edu	37	19	1074171	1074171	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1074171C>T	ENST00000313093.2	+	7	1090	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	HMHA1_ENST00000590214.1_Silent_p.L314L|HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000543365.1_Silent_p.L170L|HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000586866.1_Silent_p.L291L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1			16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			TGCCGCACTGCTGTATGCCAA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000313093.2	1	1	hg19	CCDS32863.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	1	64	311	0	90	0	9.944297e-01	1	40	0	90	2		0	0	0	0	0	2	1	1	63	308	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC44A2	57153	broad.mit.edu	37	19	10746125	10746125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10746125C>T	ENST00000335757.5	+	14	1543	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	SLC44A2_ENST00000586078.1_Silent_p.N389N|SLC44A2_ENST00000407327.4_Silent_p.N387N			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2			27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)	Choline(DB00122)	CCACTTCCAACGAAGCGGTCT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000335757.5	1	1	hg19	CCDS12245.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1	1	0	0	127	610	0	156	1	1	27	193	0	156	2		0	0	0	0	0	2	1	1	125	601	0	155	2								-20.000000	1	1	121412	2	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC44A2	57153	broad.mit.edu	37	19	10748582	10748582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10748582C>T	ENST00000335757.5	+	18	2122	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000586078.1_Silent_p.F582F|SLC44A2_ENST00000407327.4_Silent_p.F580F			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2			27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)	Choline(DB00122)	ATGCCTTCTTCCTGCTCATGA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000335757.5	1	1	hg19	CCDS12245.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1	1	0	0	75	737	0	132	1	1	29	329	0	132	2		0	0	0	0	0	2	1	1	73	719	0	129	2								-3.318794	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.870000	1.000000	1.000000	0.988554	0.990000	1	9.800000e-01	1
ILF3	3609	broad.mit.edu	37	19	10781680	10781680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10781680C>T	ENST00000590261.1	+	2	34	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C|ILF3_ENST00000449870.1_Missense_Mutation_p.R12C|ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000407004.3_Missense_Mutation_p.R12C			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa			31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		GAATGATGACCGCCATGTGAT	0.468000																								0							SO:0001583	missense			ENST00000590261.1	1	1	hg19	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978781	0.92982	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.33	5.33	0.75918	.	0.055575	0.64402	D	0.000001	T	0.64800	0.2631	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.989;0.976;0.998;0.994;0.989	T	0.71133	-0.4681	10	0.87932	D	0	.	18.3088	0.90192	0.0:1.0:0.0:0.0	.	12;12;12;12;12	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	C	12	ENSP00000404121:R12C;ENSP00000315205:R12C;ENSP00000405436:R12C;ENSP00000384660:R12C;ENSP00000250241:R12C	ENSP00000250241:R12C	R	+	1	0	ILF3	10642680	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.459000	0.80802	2.932000	0.99384	0.643000	0.83706	CGC		TCGA-IB-7651-01A-11D-2154-08	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1	1	0	1	23	102	0	39	1	1	63	162	0	39	2	0	0	0	1	0	0	2	1	9.999997e-01	23	102	0	39	2								-3.269423	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
ILF3	3609	broad.mit.edu	37	19	10787961	10787961	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10787961A>C	ENST00000590261.1	+	4	534	c.534A>C	c.(532-534)gaA>gaC	p.E178D	ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D|ILF3_ENST00000449870.1_Missense_Mutation_p.E178D|ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000407004.3_Missense_Mutation_p.E178D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa			31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		TTGTCAGAGAAGAAATGGAGA	0.463000																								0							SO:0001583	missense			ENST00000590261.1	1	1	hg19	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801770	0.70682	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.7	3.62	0.41486	DZF (2);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.59436	1.845	0.53005	D	0.999969	D;D;P;D;D	0.71674	0.996;0.997;0.924;0.998;0.996	D;D;B;D;D	0.79108	0.987;0.992;0.421;0.99;0.987	T	0.54892	-0.8225	10	0.30078	T	0.28	.	9.0255	0.36227	0.847:0.0:0.153:0.0	.	178;178;178;178;178	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	D	178	ENSP00000404121:E178D;ENSP00000315205:E178D;ENSP00000405436:E178D;ENSP00000384660:E178D;ENSP00000250241:E178D	ENSP00000250241:E178D	E	+	3	2	ILF3	10648961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.429000	0.34903	0.971000	0.38288	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1	1	0	1	61	282	0	56	1	1	86	237	0	56	2		0	0	0	0	0	2	1	1	60	276	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ILF3	3609	broad.mit.edu	37	19	10794144	10794144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10794144C>T	ENST00000590261.1	+	14	1777	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S|ILF3_ENST00000449870.1_Missense_Mutation_p.P597S|ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000407004.3_Missense_Mutation_p.P597S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa			31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		CCCTGACACCCCTCTCGCCCT	0.542000																								0							SO:0001583	missense			ENST00000590261.1	1	1	hg19	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734553	0.30774	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15952	2.44;2.44;2.38;2.38;2.38	5.75	4.7	0.59300	.	0.255835	0.39909	N	0.001228	T	0.09113	0.0225	N	0.08118	0	0.18873	N	0.999988	B;B;B;B;B;B	0.29136	0.041;0.234;0.15;0.008;0.012;0.001	B;B;B;B;B;B	0.20184	0.008;0.028;0.012;0.006;0.019;0.004	T	0.21211	-1.0252	10	0.46703	T	0.11	.	12.7548	0.57328	0.2987:0.7013:0.0:0.0	.	597;597;593;597;593;593	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	S	593;597;593;593;597;593	ENSP00000404121:P597S;ENSP00000315205:P593S;ENSP00000405436:P593S;ENSP00000384660:P597S;ENSP00000250241:P593S	ENSP00000250241:P593S	P	+	1	0	ILF3	10655144	0.514000	0.26202	0.159000	0.22649	0.987000	0.75469	2.167000	0.42415	1.398000	0.46701	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1	1	0	1	32	361	0	97	1	1	49	380	0	97	2		0	0	0	0	0	2	1	1	31	356	0	97	2								-2.806910	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.980000	0.680000	1.000000	1.000000	0.930130	0.980000	1	8.200000e-01	1
HMHA1	23526	broad.mit.edu	37	19	1080691	1080691	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1080691G>A	ENST00000313093.2	+	16	2154	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K	HMHA1_ENST00000590214.1_Silent_p.K668K|HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000543365.1_Silent_p.K524K|HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000590577.1_Silent_p.K276K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1			16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GGGACTTTAAGAAGTTCGAGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000313093.2	1	1	hg19	CCDS32863.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	0	18	251	0	54	1	8.440789e-01	2	47	0	54	2		0	0	0	0	0	2	1	9.999810e-01	18	245	0	53	2								-19.994440	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.820000	0.500000	1.000000	1.000000	0.816322	0.820000	0	6.400000e-01	1
HMHA1	23526	broad.mit.edu	37	19	1081636	1081636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1081636G>A	ENST00000313093.2	+	18	2509	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HMHA1_ENST00000590214.1_Missense_Mutation_p.G787S|HMHA1_ENST00000539243.2_Missense_Mutation_p.G776S|HMHA1_ENST00000543365.1_Missense_Mutation_p.G643S|HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1			16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GCAGCTGTTCGGCCAGGACTT	0.677000																								0							SO:0001583	missense			ENST00000313093.2	0	1	hg19	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.684633	0.88639	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.37584	1.21;1.23;1.22;1.19	4.4	4.4	0.53042	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;0.999	T	0.74084	-0.3779	10	0.87932	D	0	-34.3441	15.9856	0.80151	0.0:0.0:1.0:0.0	.	628;776;395;643;760	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	S	776;760;760;628;754;643	ENSP00000439601:G776S;ENSP00000316772:G760S;ENSP00000445109:G628S;ENSP00000438979:G643S	ENSP00000316772:G760S	G	+	1	0	HMHA1	1032636	1.000000	0.71417	0.998000	0.56505	0.429000	0.31625	9.114000	0.94329	1.993000	0.58246	0.550000	0.68814	GGC		TCGA-IB-7651-01A-11D-2154-08	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	0	8	41	0	9	1	8.780486e-01	2	20	0	9	2		0	0	0	0	0	2	1	9.906799e-01	8	40	0	8	2								-16.576450	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.880000	1.000000	1.000000	0.993119	0.990000	1	9.900000e-01	1
DNM2	1785	broad.mit.edu	37	19	10893745	10893745	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10893745G>A	ENST00000355667.6	+	6	878	c.798G>A	c.(796-798)cgG>cgA	p.R266R	DNM2_ENST00000359692.6_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R|DNM2_ENST00000389253.4_Silent_p.R266R|DNM2_ENST00000314646.5_Silent_p.R266R|DNM2_ENST00000585892.1_Silent_p.R266R|MIR4748_ENST00000578076.1_RNA	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2			42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		CGGCCTACCGGCACATGGCCG	0.592000			F, N, Splice, Mis, O		ETP ALL										Rec	yes		19	19p13.2	1785	dynamin 2		L	0							SO:0001819	synonymous_variant			ENST00000355667.6	1	1	hg19	CCDS45968.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	1	0	1	62	298	0	63	1	1	160	310	0	63	2		0	0	0	0	0	2	1	1	61	296	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR2E	5434	broad.mit.edu	37	19	1089931	1089931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1089931G>A	ENST00000215587.7	-	6	802	c.519C>T	c.(517-519)atC>atT	p.I173I	POLR2E_ENST00000586746.1_Silent_p.I173I|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa			11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			CCCCCGCCTGGATCCTGGGCA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000215587.7	1	1	hg19	CCDS12056.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	1	0	0	35	174	0	31	1	1	259	657	0	31	2		0	0	0	0	0	2	1	1	35	172	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
DNM2	1785	broad.mit.edu	37	19	10934554	10934554	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10934554C>T	ENST00000355667.6	+	17	1952	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	DNM2_ENST00000359692.6_Silent_p.G620G|DNM2_ENST00000408974.4_Silent_p.G620G|DNM2_ENST00000389253.4_Silent_p.G624G|DNM2_ENST00000314646.5_Silent_p.G624G|DNM2_ENST00000585892.1_Silent_p.G624G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2			42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		TCCGAGCTGGCGTCTACCCCG	0.662000			F, N, Splice, Mis, O		ETP ALL										Rec	yes		19	19p13.2	1785	dynamin 2		L	0							SO:0001819	synonymous_variant			ENST00000355667.6	1	1	hg19	CCDS45968.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	1	0	1	57	224	0	55	1	1	237	439	0	55	2		0	0	0	0	0	2	1	1	57	218	0	55	2								-3.686052	1	1	121408	2	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR2E	5434	broad.mit.edu	37	19	1093977	1093977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1093977G>A	ENST00000215587.7	-	2	441	c.158C>T	c.(157-159)cCg>cTg	p.P53L	POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L|POLR2E_ENST00000585838.1_5'Flank			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa			11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			CGTGCGCCGCGGCCGCCCCTC	0.642000																								0							SO:0001583	missense			ENST00000215587.7	1	1	hg19	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466162	0.84425	.	.	ENSG00000099817	ENST00000215587	T	0.43688	0.94	3.64	3.64	0.41730	RNA polymerase, Rpb5, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.78285	2.405	0.80722	D	1	D	0.63880	0.993	P	0.58210	0.835	T	0.62148	-0.6915	10	0.36615	T	0.2	-7.8213	14.4829	0.67594	0.0:0.0:1.0:0.0	.	53	P19388	RPAB1_HUMAN	L	53	ENSP00000215587:P53L	ENSP00000215587:P53L	P	-	2	0	POLR2E	1044977	1.000000	0.71417	0.934000	0.37439	0.915000	0.54546	6.883000	0.75595	1.884000	0.54569	0.511000	0.50034	CCG		TCGA-IB-7651-01A-11D-2154-08	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	1	0	1	39	183	0	44	1	1	168	399	0	44	2		0	0	0	0	0	2	1	1	38	182	0	41	2								-20.000000	1	1	121384	1	23	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNM2	1785	broad.mit.edu	37	19	10940946	10940946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10940946G>A	ENST00000355667.6	+	20	2515	c.2435G>A	c.(2434-2436)cGg>cAg	p.R812Q	DNM2_ENST00000359692.6_Missense_Mutation_p.R808Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q|DNM2_ENST00000314646.5_Missense_Mutation_p.R812Q|DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2			42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		ATCCCATCCCGGCCTGGACCC	0.697000			F, N, Splice, Mis, O		ETP ALL										Rec	yes		19	19p13.2	1785	dynamin 2		L	0							SO:0001583	missense			ENST00000355667.6	1	1	hg19	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.008865	0.75046	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T	0.61040	0.14;0.14;0.14	5.12	5.12	0.69794	.	0.068830	0.64402	D	0.000020	T	0.76183	0.3952	M	0.75615	2.305	0.47994	D	0.99956	D;P;D;D;D;D;D	0.76494	0.998;0.864;0.995;0.994;0.999;0.998;0.994	D;B;P;P;D;D;P	0.77557	0.99;0.114;0.647;0.885;0.975;0.945;0.885	T	0.79067	-0.1955	10	0.66056	D	0.02	-16.2448	17.3501	0.87321	0.0:0.0:1.0:0.0	.	406;812;541;808;808;812;812	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	Q	808;808;812;812;812	ENSP00000386192:R808Q;ENSP00000373905:R812Q;ENSP00000313164:R812Q	ENSP00000313164:R812Q	R	+	2	0	DNM2	10801946	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	8.584000	0.90798	2.403000	0.81681	0.550000	0.68814	CGG		TCGA-IB-7651-01A-11D-2154-08	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	1	0	1	204	865	0	173	1	1	191	399	0	173	2		0	0	0	0	0	2	1	1	198	847	0	170	2								-3.134111	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARM1	10498	broad.mit.edu	37	19	11019791	11019791	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11019791C>A	ENST00000327064.4	+	4	656	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1			13					TTATGGCTACCTGTCCCAGCA	0.597000																								0							SO:0001583	missense			ENST00000327064.4	1	1	hg19	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435501	0.83885	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.23950	1.88;1.88	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.50667	0.1629	M	0.80183	2.485	0.80722	D	1	D	0.56968	0.978	D	0.67725	0.953	T	0.52786	-0.8529	10	0.59425	D	0.04	-2.8926	12.3792	0.55297	0.0:0.9184:0.0:0.0816	.	156	Q86X55	CARM1_HUMAN	M	156	ENSP00000325690:L156M;ENSP00000340934:L156M	ENSP00000325690:L156M	L	+	1	2	CARM1	10880791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.558000	0.60789	2.593000	0.87608	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	1	0	1	52	249	0	65	1	1	57	90	0	65	2		0	0	0	0	0	2	1	1	52	242	0	64	2								-3.025532	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARM1	10498	broad.mit.edu	37	19	11024705	11024705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11024705C>T	ENST00000327064.4	+	6	1012	c.822C>T	c.(820-822)caC>caT	p.H274H	CARM1_ENST00000344150.4_Silent_p.H274H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1			13					GCTACCTCCACGCCAAGAAGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000327064.4	1	1	hg19	CCDS12250.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	1	0	1	31	104	0	29	1	1	46	75	0	29	2		0	0	0	0	0	2	1	1	30	103	0	29	2								-20.000000	1	1	121392	8	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YIPF2	78992	broad.mit.edu	37	19	11034236	11034236	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034236G>T	ENST00000586748.1	-	8	941	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M|YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2			7					GTGGCCACCAGCCTGGTGTCC	0.692000																								0							SO:0001583	missense			ENST00000586748.1	1	1	hg19	CCDS12251.1	.	.	.	.	.	.	.	.	.	.	G	3.746	-0.052646	0.07362	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.58	-0.291	0.12843	.	0.819276	0.10936	N	0.617763	T	0.15955	0.0384	N	0.04508	-0.205	0.09310	N	1	B	0.20671	0.047	B	0.28465	0.09	T	0.27191	-1.0081	9	0.41790	T	0.15	.	4.2388	0.10638	0.0988:0.3781:0.3913:0.1319	.	257	Q9BWQ6	YIPF2_HUMAN	M	257	.	ENSP00000253031:L257M	L	-	1	2	YIPF2	10895236	0.000000	0.05858	0.005000	0.12908	0.104000	0.19210	-0.256000	0.08757	0.461000	0.27071	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	1	0	1	74	294	0	70	1	1	112	246	0	70	2		0	0	0	0	0	2	1	1	74	291	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YIPF2	78992	broad.mit.edu	37	19	11034607	11034607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034607G>A	ENST00000586748.1	-	7	725	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W|YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2			7					TTGCGCCACCGCAGGAAGCCC	0.637000																								0							SO:0001583	missense			ENST00000586748.1	1	1	hg19	CCDS12251.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.131	0.392309	0.11638	0.0	1.16E-4	ENSG00000130733	ENST00000253031	T	0.42131	0.98	5.61	-0.627	0.11541	Yip1 domain (1);	0.597682	0.18008	N	0.154655	T	0.26955	0.0660	L	0.38649	1.16	0.29600	N	0.847729	B	0.14012	0.009	B	0.10450	0.005	T	0.13415	-1.0510	10	0.33940	T	0.23	.	6.4344	0.21815	0.1359:0.0:0.5008:0.3633	.	185	Q9BWQ6	YIPF2_HUMAN	W	185	ENSP00000253031:R185W	ENSP00000253031:R185W	R	-	1	2	YIPF2	10895607	0.997000	0.39634	0.828000	0.32881	0.011000	0.07611	2.581000	0.46077	0.054000	0.16065	-2.177000	0.00319	CGG		TCGA-IB-7651-01A-11D-2154-08	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	1	0	1	24	112	0	28	1	1	123	253	0	28	2		0	0	0	0	0	2	1	9.999998e-01	23	110	0	28	2								-20.000000	1	1	121386	17	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
SBNO2	22904	broad.mit.edu	37	19	1109544	1109544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109544C>T	ENST00000361757.3	-	28	3414	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A	SBNO2_ENST00000438103.2_Silent_p.A1002A|SBNO2_ENST00000587024.1_Silent_p.A1049A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)			14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			GGCCCGTCAGCGCCAGCGACT	0.731000																								0							SO:0001819	synonymous_variant			ENST00000361757.3	0	1	hg19	CCDS45894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	0	8	50	0	12	1	9.999999e-01	122	231	0	12	2		0	0	0	0	0	2	1	9.897169e-01	8	48	0	12	2								-15.154820	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.780000	1.000000	1.000000	0.986089	0.990000	1	9.900000e-01	1
SBNO2	22904	broad.mit.edu	37	19	1109688	1109688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109688G>T	ENST00000361757.3	-	27	3354	c.3117C>A	c.(3115-3117)ttC>ttA	p.F1039L	SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L|SBNO2_ENST00000587024.1_Missense_Mutation_p.F1029L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)			14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			TGACCTTGTAGAAGACCACCT	0.682000																								0							SO:0001583	missense			ENST00000361757.3	1	1	hg19	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	1.265	-0.614791	0.03663	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.18	0.536	0.17138	.	0.115356	0.64402	N	0.000012	T	0.10337	0.0253	N	0.03029	-0.43	0.26794	N	0.969336	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.34104	-0.9842	9	0.02654	T	1	-21.3351	5.3231	0.15891	0.1923:0.1637:0.644:0.0	.	1039;982	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	1039;982;1057	.	ENSP00000250872:F1057L	F	-	3	2	SBNO2	1060688	0.830000	0.29337	1.000000	0.80357	0.602000	0.36980	-0.159000	0.10056	0.201000	0.20466	-0.379000	0.06801	TTC		TCGA-IB-7651-01A-11D-2154-08	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	0	18	189	0	33	1	1	40	325	0	33	2		0	0	0	0	0	2	1	9.999830e-01	18	185	0	33	2								-19.999980	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.650000	1.000000	1.000000	0.940123	0.990000	1	8.300000e-01	1
SMARCA4	6597	broad.mit.edu	37	19	11105645	11105645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11105645C>T	ENST00000429416.3	+	10	1842	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	p.?(1)		163		all_lung(6;0.0512)|Lung NSC(9;0.0568)			AGAGAACGAGCGGATCGAGAA	0.567000			F, N, Mis		NSCLC										Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)						SO:0001583	missense			ENST00000429416.3	1	1	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680126	0.47886	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.46	-0.935	0.10423	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.91612	3.225	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.994;0.987;0.999;0.999	T	0.79140	-0.1926	10	0.87932	D	0	-32.9408	15.4281	0.75069	0.8024:0.1976:0.0:0.0	.	521;521;521;521;521;521;521	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	W	521	ENSP00000395654:R521W;ENSP00000350720:R521W;ENSP00000343896:R521W;ENSP00000445036:R521W;ENSP00000392837:R521W;ENSP00000397783:R521W;ENSP00000414727:R521W	ENSP00000343896:R521W	R	+	1	2	SMARCA4	10966645	0.953000	0.32496	0.003000	0.11579	0.487000	0.33371	0.223000	0.17719	-0.191000	0.10448	-0.309000	0.09137	CGG		TCGA-IB-7651-01A-11D-2154-08	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	1	0	1	23	101	0	33	1	9.999999e-01	52	87	0	33	2	1	1	223	802	0	1010	2	1	9.999997e-01	23	99	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
SMARCA4	6597	broad.mit.edu	37	19	11107017	11107017	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11107017C>A	ENST00000429416.3	+	11	2003	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A|SMARCA4_ENST00000358026.2_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	p.?(3)		163		all_lung(6;0.0512)|Lung NSC(9;0.0568)			ACAAGGCTGCCCAGGTCGCCa	0.592000			F, N, Mis		NSCLC										Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	3	Unknown(3)						SO:0001819	synonymous_variant			ENST00000429416.3	1	1	hg19	CCDS12253.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	1	0	1	118	492	0	129	1	1	36	78	0	129	2	1	1	235	959	0	1070	2	1	1	117	488	0	128	2								-3.267810	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SBNO2	22904	broad.mit.edu	37	19	1112468	1112468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112468G>A	ENST00000361757.3	-	21	2685	c.2448C>T	c.(2446-2448)aaC>aaT	p.N816N	SBNO2_ENST00000438103.2_Silent_p.N759N|SBNO2_ENST00000587024.1_Silent_p.N806N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)			14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			GGCGCCGCTGGTTCTGGACAC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000361757.3	1	1	hg19	CCDS45894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	0	18	80	0	24	1	1	56	107	0	24	2		0	0	0	0	0	2	1	9.999897e-01	18	79	0	24	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999874	0.990000	1	9.900000e-01	1
SBNO2	22904	broad.mit.edu	37	19	1112481	1112481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112481C>T	ENST00000361757.3	-	21	2672	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H|SBNO2_ENST00000587024.1_Missense_Mutation_p.R802H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)			14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			CTGGACACGGCGGTCGGCTTG	0.706000																								0							SO:0001583	missense			ENST00000361757.3	1	1	hg19	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777001	0.90195	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.76316	-1.01;-1.01	4.89	4.89	0.63831	.	0.060647	0.64402	D	0.000003	D	0.88325	0.6406	M	0.89095	3.005	0.31949	N	0.609907	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.89777	0.3958	10	0.56958	D	0.05	-25.5626	10.6635	0.45717	0.0:0.9113:0.0:0.0887	.	812;755	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	H	812;755;819	ENSP00000354733:R812H;ENSP00000400762:R755H	ENSP00000250872:R819H	R	-	2	0	SBNO2	1063481	0.999000	0.42202	0.901000	0.35422	0.840000	0.47671	3.834000	0.55798	2.265000	0.75225	0.448000	0.29417	CGC		TCGA-IB-7651-01A-11D-2154-08	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	0	17	85	0	20	1	9.999999e-01	58	110	0	20	2		0	0	0	0	0	2	1	9.999739e-01	17	82	0	20	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999595	0.990000	1	9.900000e-01	1
SBNO2	22904	broad.mit.edu	37	19	1112516	1112516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112516C>A	ENST00000361757.3	-	21	2637	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D	SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D|SBNO2_ENST00000587024.1_Missense_Mutation_p.E790D	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)			14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			AGCTGGAGGCCTCCGAGATGA	0.701000																								0							SO:0001583	missense			ENST00000361757.3	0	1	hg19	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203957	0.95033	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.73152	-0.72;-0.72	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	N	0.17345	0.48	0.45995	D	0.998807	P;P	0.44429	0.835;0.802	P;P	0.49637	0.617;0.482	T	0.67011	-0.5778	10	0.36615	T	0.2	-35.3467	17.03	0.86458	0.0:1.0:0.0:0.0	.	800;743	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	D	800;743;807	ENSP00000354733:E800D;ENSP00000400762:E743D	ENSP00000250872:E807D	E	-	3	2	SBNO2	1063516	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.577000	0.23758	2.265000	0.75225	0.448000	0.29417	GAG		TCGA-IB-7651-01A-11D-2154-08	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	0	14	84	0	13	1	9.999818e-01	45	85	0	13	2		0	0	0	0	0	2	1	9.997881e-01	14	81	0	12	2								-19.999940	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.980000	1.000000	1.000000	0.997059	0.990000	1	9.900000e-01	1
SMARCA4	6597	broad.mit.edu	37	19	11134266	11134266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11134266C>T	ENST00000429416.3	+	21	3213	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	p.?(1)		163		all_lung(6;0.0512)|Lung NSC(9;0.0568)			CTTCTTGCTCCGACGACTCAA	0.572000			F, N, Mis		NSCLC										Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)						SO:0001587	stop_gained			ENST00000429416.3	0	1	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	40	8.271704	0.98737	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.9	3.82	0.43975	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8503	12.3162	0.54958	0.2155:0.7845:0.0:0.0	.	.	.	.	X	978;978;1042;978;978;978;978;978	.	ENSP00000343896:R978X	R	+	1	2	SMARCA4	10995266	0.036000	0.19791	1.000000	0.80357	0.978000	0.69477	0.328000	0.19681	2.542000	0.85734	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	1	0	0	21	85	0	21	1	9.999997e-01	10	108	0	21	2	1	1	168	690	0	744	2	1	9.999989e-01	21	85	0	21	2								-3.197606	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
SMARCA4	6597	broad.mit.edu	37	19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11144146C>T	ENST00000429416.3	+	27	4008	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	p.R1243W(3)|p.?(1)		163		all_lung(6;0.0512)|Lung NSC(9;0.0568)			CAGCCATGAGCGGCGCGCCTT	0.637000			F, N, Mis		NSCLC										Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	4	Substitution - Missense(3)|Unknown(1)						SO:0001583	missense			ENST00000429416.3	1	1	hg19	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698723|3.698723	0.68501|0.68501	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T|D;D;D;D;D;D;D	0.76060|0.95103	-0.99|-2.35;-2.34;-2.35;-3.61;-3.61;-3.61;-3.61	4.74|4.74	-4.88|-4.88	0.03113|0.03113	.|Helicase, C-terminal (1);	.|0.066410	.|0.64402	.|D	.|0.000011	D|D	0.96876|0.96876	0.8980|0.8980	M|M	0.89287|0.89287	3.02|3.02	0.47994|0.47994	D|D	0.999562|0.999562	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.979;0.995;0.991;0.988	D|D	0.95985|0.95985	0.8981|0.8981	6|10	.|0.87932	.|D	.|0	-32.479|-32.479	16.3987|16.3987	0.83632|0.83632	0.6595:0.3405:0.0:0.0|0.6595:0.3405:0.0:0.0	.|.	.|1243;1243;1243;1243;1243;463;1243	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	V|W	12|1243;1243;1307;1243;1243;1243;1243;1243	ENSP00000443848:A12V|ENSP00000395654:R1243W;ENSP00000350720:R1243W;ENSP00000343896:R1243W;ENSP00000445036:R1243W;ENSP00000392837:R1243W;ENSP00000397783:R1243W;ENSP00000414727:R1243W	.|ENSP00000343896:R1243W	A|R	+|+	2|1	0|2	SMARCA4|SMARCA4	11005146|11005146	0.951000|0.951000	0.32395|0.32395	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	0.134000|0.134000	0.15932|0.15932	-0.414000|-0.414000	0.07495|0.07495	0.558000|0.558000	0.71614|0.71614	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	0	0	1	24	669	0	122	1	9.457177e-01	16	121	0	122	2	1	1	32	916	0	891	2	1	9.999995e-01	24	651	0	114	2								-3.659201	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.420000	0.270000	1.000000	0.400000	0.470533	0.420000	0	3.400000e-01	5.400000e-01
SMARCA4	6597	broad.mit.edu	37	19	11152114	11152114	+	Silent	SNP	C	C	T	rs146747026		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11152114C>T	ENST00000429416.3	+	31	4583	c.4302C>T	c.(4300-4302)gaC>gaT	p.D1434D	SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Silent_p.D1434D|SMARCA4_ENST00000358026.2_Silent_p.D1466D|SMARCA4_ENST00000589677.1_Silent_p.D1404D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	p.?(1)		163		all_lung(6;0.0512)|Lung NSC(9;0.0568)			GCGACAAGGACGACGAGAGCA	0.612000			F, N, Mis		NSCLC										Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)						SO:0001819	synonymous_variant			ENST00000429416.3	1	1	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223480	0.22457	0.0	1.16E-4	ENSG00000127616	ENST00000538456	.	.	.	4.44	-3.66	0.04489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-42.7996	6.6399	0.22903	0.0:0.3788:0.126:0.4952	.	.	.	.	X	206	.	.	R	+	1	2	SMARCA4	11013114	0.000000	0.05858	0.987000	0.45799	0.959000	0.62525	-1.961000	0.01516	-0.370000	0.08016	-0.363000	0.07495	CGA		TCGA-IB-7651-01A-11D-2154-08	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	0	0	1	44	179	0	39	1	1	74	113	0	39	2	1	1	452	1726	3	2157	9	1	1	39	175	0	38	2								-20.000000	1	1	121358	11	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCA4	6597	broad.mit.edu	37	19	11170476	11170476	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170476G>A	ENST00000429416.3	+	34	4964	c.4683G>A	c.(4681-4683)cgG>cgA	p.R1561R	SMARCA4_ENST00000590574.1_Silent_p.R1528R|SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000344626.4_Silent_p.R1561R|SMARCA4_ENST00000358026.2_Silent_p.R1593R|SMARCA4_ENST00000589677.1_Silent_p.R1530R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	p.?(1)		163		all_lung(6;0.0512)|Lung NSC(9;0.0568)			CCAGCGTGCGGCAGAAAATCg	0.602000			F, N, Mis		NSCLC										Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)						SO:0001819	synonymous_variant			ENST00000429416.3	0	1	hg19	CCDS12253.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	0	0	0	20	85	0	12	1	1	49	138	0	12	2	1	1	259	1607	1	1838	8	1	9.999978e-01	20	85	0	12	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
SMARCA4	6597	broad.mit.edu	37	19	11170509	11170509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170509C>T	ENST00000429416.3	+	34	4997	c.4716C>T	c.(4714-4716)ggC>ggT	p.G1572G	SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000344626.4_Silent_p.G1572G|SMARCA4_ENST00000358026.2_Silent_p.G1604G|SMARCA4_ENST00000589677.1_Silent_p.G1541G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	p.?(1)		163		all_lung(6;0.0512)|Lung NSC(9;0.0568)			acagtgaaggcgaggagagtg	0.607000			F, N, Mis		NSCLC										Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)						SO:0001819	synonymous_variant			ENST00000429416.3	1	1	hg19	CCDS12253.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	1	0	1	38	134	0	22	1	1	9	113	0	22	2	1	1	274	1664	1	1978	6	1	1	35	134	0	21	2								-3.787297	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SBNO2	22904	broad.mit.edu	37	19	1119096	1119096	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1119096G>T	ENST00000361757.3	-	14	1678	c.1441C>A	c.(1441-1443)Ctc>Atc	p.L481I	SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I|SBNO2_ENST00000587024.1_Missense_Mutation_p.L481I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)			14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			GAGAAGCTGAGCTGGCGTGCG	0.672000																								0							SO:0001583	missense			ENST00000361757.3	1	1	hg19	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903094	0.92035	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.88842	2.985	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.982	D	0.87589	0.2489	9	0.72032	D	0.01	-29.7548	15.375	0.74598	0.0:0.0:1.0:0.0	.	481;481;424	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	I	481;424;505	.	ENSP00000250872:L505I	L	-	1	0	SBNO2	1070096	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.421000	0.97455	2.160000	0.67779	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	1	23	64	0	11	1	1	64	173	0	11	2		0	0	0	0	0	2	1	9.999998e-01	23	62	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KANK2	25959	broad.mit.edu	37	19	11303618	11303618	+	Missense_Mutation	SNP	G	G	A	rs144821191	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303618G>A	ENST00000586659.1	-	4	1452	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	KANK2_ENST00000432929.2_Missense_Mutation_p.R380C|KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000355150.5_Missense_Mutation_p.R380C|KANK2_ENST00000589894.1_Missense_Mutation_p.R380C			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2			14					TCCTGGCTGCGGAACACAGGT	0.642000																								0							SO:0001583	missense			ENST00000586659.1	1	1	hg19	CCDS12255.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.976	0.550018	0.13374	2.27E-4	0.001163	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37235	1.21;1.21	4.11	0.147	0.14838	.	0.085848	0.43747	D	0.000540	T	0.24774	0.0601	L	0.45581	1.43	0.33354	D	0.571462	B;B;B	0.13145	0.001;0.001;0.007	B;B;B	0.06405	0.002;0.0;0.002	T	0.10474	-1.0628	10	0.37606	T	0.19	-34.2083	5.155	0.15031	0.305:0.0:0.546:0.149	.	380;380;380	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	C	380	ENSP00000395650:R380C;ENSP00000347276:R380C	ENSP00000347276:R380C	R	-	1	0	KANK2	11164618	0.023000	0.18921	0.998000	0.56505	0.366000	0.29705	0.248000	0.18198	0.224000	0.20940	-0.448000	0.05591	CGC		TCGA-IB-7651-01A-11D-2154-08	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	1	0	1	69	310	0	91	1	9.999760e-01	6	66	0	91	2		0	0	0	0	0	2	1	1	69	304	1	90	15								-2.895822	1	1	121412	53	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KANK2	25959	broad.mit.edu	37	19	11303796	11303796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303796C>T	ENST00000586659.1	-	4	1274	c.960G>A	c.(958-960)ccG>ccA	p.P320P	KANK2_ENST00000432929.2_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000355150.5_Silent_p.P320P|KANK2_ENST00000589894.1_Silent_p.P320P			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2			14					GGCTGTCCGGCGGTGGCCAGG	0.726000																								0							SO:0001819	synonymous_variant			ENST00000586659.1	0	1	hg19	CCDS12255.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	1	0	0	20	139	0	22	0	2.815851e-01	0	8	0	22	2		0	0	0	0	0	2	1	9.999957e-01	19	135	0	21	2								-20.000000	1	1	119736	1	14	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.960000	1.000000	1.000000	0.996884	0.990000	1	9.900000e-01	1
DOCK6	57572	broad.mit.edu	37	19	11326479	11326479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11326479C>T	ENST00000294618.7	-	31	4030	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6			39					CCTCTTACCACGACTTCGCCG	0.542000																								0							SO:0001583	missense			ENST00000294618.7	1	1	hg19	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012642	0.93346	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.02863	4.13;4.13	5.29	4.23	0.50019	.	0.068952	0.56097	D	0.000035	T	0.11922	0.0290	M	0.72118	2.19	0.53005	D	0.999962	D;P	0.60160	0.987;0.951	P;P	0.61722	0.893;0.677	T	0.00832	-1.1548	10	0.66056	D	0.02	-15.8247	14.0834	0.64939	0.1521:0.8479:0.0:0.0	.	679;1340	C9IZV6;Q96HP0	.;DOCK6_HUMAN	H	1340;679	ENSP00000294618:R1340H;ENSP00000321556:R679H	ENSP00000294618:R1340H	R	-	2	0	DOCK6	11187479	1.000000	0.71417	0.680000	0.29994	0.821000	0.46438	7.524000	0.81866	1.416000	0.47057	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	1	0	1	53	314	0	82	1	9.997212e-01	3	71	0	82	2		0	0	0	0	0	2	1	1	52	305	0	81	2								-19.999950	1	1	120926	4	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DOCK6	57572	broad.mit.edu	37	19	11361633	11361633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11361633C>A	ENST00000294618.7	-	6	648	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6			39					TCCACATCTTCTGGGGCCGCC	0.652000																								0							SO:0001587	stop_gained			ENST00000294618.7	0	1	hg19	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635450	0.87760	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	.	0.114392	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.955	16.7706	0.85536	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000294618:E213X	E	-	1	0	DOCK6	11222633	1.000000	0.71417	0.443000	0.26883	0.074000	0.17049	7.185000	0.77714	2.250000	0.74265	0.462000	0.41574	GAA		TCGA-IB-7651-01A-11D-2154-08	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	1	0	1	37	195	0	28	1	9.973662e-01	5	46	0	28	2		0	0	0	0	0	2	1	1	37	190	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
RAB3D	9545	broad.mit.edu	37	19	11436108	11436108	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11436108G>T	ENST00000222120.3	-	5	886	c.626C>A	c.(625-627)gCt>gAt	p.A209D	CTC-510F12.6_ENST00000586051.1_RNA|RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family			14					GGGGGCTGGAGCATCCCCCAC	0.667000																								0							SO:0001583	missense			ENST00000222120.3	0	1	hg19	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639183	0.29157	.	.	ENSG00000105514	ENST00000222120	T	0.62788	0.0	5.05	4.02	0.46733	.	0.702320	0.13155	N	0.409570	T	0.40815	0.1132	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.21999	-1.0229	10	0.23891	T	0.37	.	10.7626	0.46274	0.0896:0.0:0.9104:0.0	.	209	O95716	RAB3D_HUMAN	D	209	ENSP00000222120:A209D	ENSP00000222120:A209D	A	-	2	0	RAB3D	11297108	0.016000	0.18221	0.003000	0.11579	0.593000	0.36681	1.842000	0.39250	1.362000	0.46000	0.455000	0.32223	GCT		TCGA-IB-7651-01A-11D-2154-08	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	1	0	0	34	112	0	24	1	9.257040e-01	3	14	0	24	2		0	0	0	0	0	2	1	1	34	111	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB3D	9545	broad.mit.edu	37	19	11447893	11447893	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11447893G>A	ENST00000222120.3	-	2	443	c.183C>T	c.(181-183)gtC>gtT	p.V61V	RAB3D_ENST00000589655.1_Silent_p.V61V	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family			14					AGACGGTCTTGACCTTGAAAT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000222120.3	1	1	hg19	CCDS12257.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	1	0	1	272	1140	0	291	1	9.981822e-01	10	31	0	291	2		0	0	0	0	0	2	1	1	262	1103	0	288	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC159	126075	broad.mit.edu	37	19	11465331	11465331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11465331C>T	ENST00000588790.1	+	12	1295	c.848C>T	c.(847-849)tCc>tTc	p.S283F	DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F|DKFZP761J1410_ENST00000251473.5_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159			5					CAGGACCTCTCCCAGCCACCT	0.652000																								0							SO:0001583	missense			ENST00000588790.1	0	1	hg19	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758685	0.49468	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.53206	0.63	3.1	-0.664	0.11406	.	.	.	.	.	T	0.44746	0.1308	L	0.44542	1.39	0.09310	N	1	D;B	0.58620	0.983;0.002	P;B	0.53649	0.731;0.003	T	0.33904	-0.9850	9	0.72032	D	0.01	.	3.0227	0.06080	0.0:0.4741:0.237:0.2889	.	398;283	P0C7I6;P0C7I6-2	CC159_HUMAN;.	F	283;398	ENSP00000402239:S283F	ENSP00000390400:S398F	S	+	2	0	CCDC159	11326331	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-0.499000	0.06413	0.182000	0.20032	-0.339000	0.08088	TCC		TCGA-IB-7651-01A-11D-2154-08	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	1	0	1	12	64	0	14	1	9.979121e-01	14	48	0	14	2		0	0	0	0	0	2	1	9.992687e-01	12	62	0	14	2								-19.984940	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997553	0.990000	1	9.900000e-01	1
EPOR	2057	broad.mit.edu	37	19	11492692	11492692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492692G>A	ENST00000222139.6	-	3	445	c.341C>T	c.(340-342)aCg>aTg	p.T114M	EPOR_ENST00000592375.2_Missense_Mutation_p.T114M	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor			5				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GAAGCTCGACGTGTCGGCTGT	0.622000																								0							SO:0001583	missense			ENST00000222139.6	1	1	hg19	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090546	0.76756	.	.	ENSG00000187266	ENST00000222139	D	0.84516	-1.86	4.18	4.18	0.49190	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.410322	0.20505	N	0.091004	D	0.86636	0.5980	L	0.57536	1.79	0.28431	N	0.917265	D	0.63046	0.992	P	0.52710	0.707	T	0.81512	-0.0899	10	0.49607	T	0.09	.	12.3535	0.55161	0.0:0.0:1.0:0.0	.	114	P19235	EPOR_HUMAN	M	114	ENSP00000222139:T114M	ENSP00000222139:T114M	T	-	2	0	EPOR	11353692	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.100000	0.64560	2.074000	0.62210	0.305000	0.20034	ACG		TCGA-IB-7651-01A-11D-2154-08	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1	1	0	1	78	252	0	53	1	8.984477e-01	3	12	0	53	2		0	0	0	0	0	2	1	1	77	248	0	53	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPOR	2057	broad.mit.edu	37	19	11492759	11492759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492759G>A	ENST00000222139.6	-	3	378	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	EPOR_ENST00000592375.2_Missense_Mutation_p.R92C	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor			5				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TGGTGCAGGCGACACAGCTTC	0.672000																								0							SO:0001583	missense			ENST00000222139.6	1	1	hg19	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603898	0.66445	.	.	ENSG00000187266	ENST00000222139	D	0.83755	-1.76	3.65	-3.63	0.04529	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.627053	0.15001	N	0.286114	T	0.75796	0.3898	L	0.47716	1.5	0.18873	N	0.999987	D	0.55172	0.97	P	0.46885	0.53	T	0.69518	-0.5124	10	0.54805	T	0.06	-15.8409	7.3652	0.26768	0.0:0.1431:0.2483:0.6086	.	92	P19235	EPOR_HUMAN	C	92	ENSP00000222139:R92C	ENSP00000222139:R92C	R	-	1	0	EPOR	11353759	0.009000	0.17119	0.181000	0.23098	0.421000	0.31385	0.161000	0.16481	-0.322000	0.08615	0.305000	0.20034	CGC		TCGA-IB-7651-01A-11D-2154-08	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1	1	0	1	55	176	0	33	1	9.339590e-01	4	13	0	33	2		0	0	0	0	0	2	1	1	53	174	0	32	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC151	115948	broad.mit.edu	37	19	11534583	11534583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534583C>T	ENST00000356392.4	-	8	1166	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D|CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D|CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151			12					CTTGACCTTGCCAAAGATCAC	0.672000																								0							SO:0001583	missense			ENST00000356392.4	1	1	hg19	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	6.622	0.483272	0.12581	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.85258	-1.96;-1.96	4.24	1.98	0.26296	.	0.451517	0.22002	N	0.065987	T	0.68851	0.3046	N	0.22421	0.69	0.30711	N	0.749307	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.55964	-0.8057	10	0.14252	T	0.57	-22.3144	5.0199	0.14356	0.0:0.639:0.0:0.361	.	360;360;340	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	D	306;360;339	ENSP00000442987:G306D;ENSP00000348757:G360D	ENSP00000348757:G360D	G	-	2	0	CCDC151	11395583	0.890000	0.30428	0.934000	0.37439	0.953000	0.61014	0.280000	0.18790	0.995000	0.38917	-0.424000	0.05967	GGC		TCGA-IB-7651-01A-11D-2154-08	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	0	0	0	24	555	0	80	0	5.551117e-03	0	3	0	80	2		0	0	0	0	0	2	1	9.999996e-01	25	549	0	79	2								-19.997900	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.500000	0.320000	1.000000	0.490000	0.546365	0.500000	0	4.000000e-01	6.500000e-01
CCDC151	115948	broad.mit.edu	37	19	11534691	11534691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534691C>T	ENST00000356392.4	-	8	1058	c.971G>A	c.(970-972)cGc>cAc	p.R324H	CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H|CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H|CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151			12					CAGGTGCTCGCGGTGGGTCTG	0.662000																								0							SO:0001583	missense			ENST00000356392.4	1	1	hg19	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.657951	0.67586	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83755	-1.76;-1.76	3.63	3.63	0.41609	.	0.605905	0.15707	N	0.248624	D	0.88548	0.6466	M	0.70595	2.14	0.36641	D	0.876856	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65773	0.938;0.938;0.938	D	0.89946	0.4076	10	0.54805	T	0.06	-9.2471	10.9377	0.47255	0.0:1.0:0.0:0.0	.	324;324;304	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	H	270;324;303	ENSP00000442987:R270H;ENSP00000348757:R324H	ENSP00000348757:R324H	R	-	2	0	CCDC151	11395691	0.981000	0.34729	0.608000	0.28969	0.013000	0.08279	1.889000	0.39718	2.014000	0.59158	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	1	0	1	189	854	0	177	0	3.313665e-02	0	2	0	177	2		0	0	0	0	0	2	1	1	182	832	0	174	2								-3.251708	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCSH	5589	broad.mit.edu	37	19	11557939	11557939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11557939C>T	ENST00000589838.1	+	9	813	c.813C>T	c.(811-813)cgC>cgT	p.R271R	PRKCSH_ENST00000412601.1_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R|PRKCSH_ENST00000587327.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000252455.2_Silent_p.R271R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H			19					TCTACGACCGCGTCTGGGCCG	0.637000											OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000589838.1	1	1	hg19	CCDS32911.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1	1	0	1	73	281	0	74	1	1	188	615	0	74	2		0	0	0	0	0	2	1	1	71	279	0	73	2								-20.000000	1	1	121410	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCSH	5589	broad.mit.edu	37	19	11560084	11560084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11560084C>T	ENST00000589838.1	+	16	1444	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000252455.2_Missense_Mutation_p.R482C			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H			19					TCCCCAGGTGCGCCTCCTGTG	0.692000																								0							SO:0001583	missense			ENST00000589838.1	1	1	hg19	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921617	0.52653	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.77229	-1.08;-1.08	3.46	2.3	0.28687	Mannose-6-phosphate receptor, binding (1);	0.293432	0.28493	N	0.015158	T	0.80292	0.4596	L	0.52011	1.625	0.44762	D	0.997761	D;D;D;D	0.89917	1.0;1.0;0.99;1.0	D;D;P;D	0.65874	0.939;0.939;0.86;0.939	T	0.77608	-0.2524	10	0.38643	T	0.18	-25.7659	8.2518	0.31730	0.4322:0.5678:0.0:0.0	.	489;489;479;482	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	C	482;479	ENSP00000252455:R482C;ENSP00000395616:R479C	ENSP00000252455:R482C	R	+	1	0	PRKCSH	11421084	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.509000	0.45459	1.928000	0.55862	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1	1	0	1	78	410	0	58	1	1	330	781	0	58	2		0	0	0	0	0	2	1	1	76	402	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELAVL3	1995	broad.mit.edu	37	19	11568960	11568960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11568960G>A	ENST00000359227.3	-	5	1053	c.629C>T	c.(628-630)aCg>aTg	p.T210M	ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3			15					CGCCTGCCCCGTCTTCTGACT	0.627000																								0							SO:0001583	missense			ENST00000359227.3	1	1	hg19	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047153	0.55110	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.08720	3.36;3.06	4.95	3.89	0.44902	Nucleotide-binding, alpha-beta plait (1);	0.052555	0.85682	D	0.000000	T	0.10380	0.0254	M	0.64997	1.995	0.80722	D	1	B;B	0.31256	0.211;0.316	B;B	0.25987	0.048;0.065	T	0.07693	-1.0759	10	0.31617	T	0.26	.	13.5258	0.61594	0.0:0.0:0.8423:0.1577	.	210;210	Q14576;Q14576-2	ELAV3_HUMAN;.	M	210	ENSP00000352162:T210M;ENSP00000390878:T210M	ENSP00000352162:T210M	T	-	2	0	ELAVL3	11429960	1.000000	0.71417	0.837000	0.33122	0.967000	0.64934	9.395000	0.97266	1.068000	0.40764	0.478000	0.44815	ACG		TCGA-IB-7651-01A-11D-2154-08	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	1	0	1	85	372	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	83	367	0	59	2								-3.437895	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELOF1	84337	broad.mit.edu	37	19	11664626	11664626	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11664626C>A	ENST00000252445.3	-	4	251		c.e4-1		ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000589171.1_Missense_Mutation_p.Q64H|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000591674.1_Splice_Site	NM_032377.3	NP_115753.1	P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	p.?(1)		5					TCTGACAGATCTGGGCCACTT	0.597000																								1	Unknown(1)						SO:0001630	splice_region_variant			ENST00000252445.3	1	0	hg19	CCDS12264.1	.	.	.	.	.	.	.	.	.	.	C	5.541	0.284702	0.10513	.	.	ENSG00000130165	ENST00000252445	.	.	.	4.9	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2736	0.15638	0.162:0.6613:0.0:0.1767	.	.	.	.	.	-1	.	.	.	-	.	.	ELOF1	11525626	1.000000	0.71417	0.719000	0.30619	0.003000	0.03518	5.084000	0.64462	0.122000	0.18314	-0.277000	0.10078	.		TCGA-IB-7651-01A-11D-2154-08	ELOF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458868.1	1	0	0	82	318	0	97	1	9.999940e-01	65	5	0	97	2		0	0	0	0	0	2	1	1	81	315	0	97	2								-3.639082	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACP5	54	broad.mit.edu	37	19	11686037	11686037	+	Missense_Mutation	SNP	C	C	T	rs146196342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11686037C>T	ENST00000592828.1	-	7	1168	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V256M|ACP5_ENST00000412435.2_Missense_Mutation_p.V256M	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant			9					CCACTCAGCACGTAGCCCACG	0.587000																								0							SO:0001583	missense			ENST00000592828.1	1	1	hg19	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354051	0.24512	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.71461	-0.57;-0.57;-0.57	4.82	2.55	0.30701	.	0.279582	0.35525	N	0.003156	T	0.57359	0.2048	L	0.56280	1.765	0.80722	D	1	P	0.37101	0.582	B	0.28465	0.09	T	0.52815	-0.8525	10	0.48119	T	0.1	-17.5314	7.146	0.25583	0.0:0.69:0.0:0.31	.	256	P13686	PPA5_HUMAN	M	256	ENSP00000218758:V256M;ENSP00000392374:V256M;ENSP00000413456:V256M	ENSP00000218758:V256M	V	-	1	0	ACP5	11547037	0.882000	0.30256	0.823000	0.32752	0.264000	0.26372	1.619000	0.36965	0.355000	0.24131	0.550000	0.68814	GTG		TCGA-IB-7651-01A-11D-2154-08	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1	0	0	1	54	251	0	78	1	1	26	831	0	78	2		0	0	0	0	0	2	1	1	53	245	0	78	2								-3.330227	1	1	121408	89	50	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF627	199692	broad.mit.edu	37	19	11727652	11727652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727652G>T	ENST00000361113.5	+	4	542	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627			14					AGTTGGCATGGGTCCTTCATC	0.433000													Melanoma(112;173 1614 10731 17751 23322)											0							SO:0001583	missense			ENST00000361113.5	1	1	hg19	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	8.558	0.877179	0.17395	.	.	ENSG00000198551	ENST00000361113	T	0.14893	2.47	1.36	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.07954	0.0199	N	0.17594	0.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32719	-0.9896	9	0.36615	T	0.2	.	2.9306	0.05799	0.0:0.3208:0.2676:0.4116	.	112	Q7L945	ZN627_HUMAN	C	112	ENSP00000354414:G112C	ENSP00000354414:G112C	G	+	1	0	ZNF627	11588652	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.992000	0.00162	-0.782000	0.04541	0.313000	0.20887	GGT		TCGA-IB-7651-01A-11D-2154-08	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	1	0	1	91	569	0	154	1	9.692941e-01	10	27	0	154	2		0	0	0	0	0	2	1	1	87	556	0	153	2								-3.318802	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF627	199692	broad.mit.edu	37	19	11727882	11727882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727882G>A	ENST00000361113.5	+	4	772	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627			14					ACATGTTAACGCATAGGGGAG	0.413000													Melanoma(112;173 1614 10731 17751 23322)											0							SO:0001819	synonymous_variant			ENST00000361113.5	1	1	hg19	CCDS42502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	1	0	1	55	237	0	52	1	9.965779e-01	11	29	0	52	2		0	0	0	0	0	2	1	1	55	233	0	52	2								-3.492473	1	1	121322	1	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF823	55552	broad.mit.edu	37	19	11832603	11832603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11832603C>T	ENST00000341191.6	-	4	1899	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	ZNF823_ENST00000545749.1_Silent_p.L400L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823			26					TACATTCATACAGCTTCTCTC	0.418000										HNSCC(68;0.2)														0							SO:0001819	synonymous_variant			ENST00000341191.6	1	0	hg19	CCDS45981.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	1	0	1	83	332	0	94	1	8.976860e-01	5	13	0	94	2		0	0	0	0	0	2	1	1	83	325	0	94	2								-3.637144	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF441	126068	broad.mit.edu	37	19	11892674	11892674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11892674G>A	ENST00000357901.4	+	4	2137	c.2035G>A	c.(2035-2037)Gca>Aca	p.A679T	ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441			19					ATGTGGGGAAGCATTTCATTG	0.393000																								0							SO:0001583	missense			ENST00000357901.4	1	1	hg19	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	g	0.091	-1.167675	0.01660	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.60797	0.16;0.16	1.04	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.34658	0.0905	N	0.20807	0.61	0.09310	N	1	B	0.21452	0.056	B	0.20384	0.029	T	0.11916	-1.0568	9	0.33141	T	0.24	.	3.5164	0.07726	0.2866:0.0:0.4456:0.2678	.	679	Q8N8Z8	ZN441_HUMAN	T	635;679;612	ENSP00000350576:A679T;ENSP00000403738:A612T	ENSP00000350576:A679T	A	+	1	0	ZNF441	11753674	0.000000	0.05858	0.001000	0.08648	0.267000	0.26476	-1.245000	0.02899	-1.183000	0.02723	-1.842000	0.00583	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	0	0	1	41	178	0	44	0	6.885153e-01	0	12	0	44	2		0	0	0	0	0	2	1	1	41	175	0	42	2								-19.999970	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF491	126069	broad.mit.edu	37	19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491			26					AGTTCCTTTCGCAGACATGAA	0.438000																								0							SO:0001583	missense			ENST00000323169.5	1	1	hg19	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	1.956	-0.440106	0.04636	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.00792	5.69	0.892	-0.203	0.13204	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	B	0.40982	0.345	T	0.50915	-0.8771	9	0.52906	T	0.07	.	1.8977	0.03261	0.417:0.0:0.3131:0.2699	.	203	Q8N8L2	ZN491_HUMAN	H	203	ENSP00000313443:R203H	ENSP00000313443:R203H	R	+	2	0	ZNF491	11778376	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.506000	0.02271	-0.041000	0.13558	0.407000	0.27541	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	1	0	1	39	174	0	52	0	9.227307e-02	0	3	0	52	2		0	0	0	0	0	2	1	1	38	172	0	52	2								-19.999250	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF440	126070	broad.mit.edu	37	19	11942469	11942469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11942469A>G	ENST00000304060.5	+	4	642	c.478A>G	c.(478-480)Aga>Gga	p.R160G		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440			27					CCCCTCCTTTAGAACACAAGA	0.413000																								0							SO:0001583	missense			ENST00000304060.5	1	1	hg19	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	7.908	0.735858	0.15574	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.29655	1.56;2.37;2.39;5.6	0.724	-1.45	0.08828	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42017	0.1184	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.60173	0.87	T	0.31833	-0.9929	9	0.42905	T	0.14	.	4.0694	0.09876	0.383:0.256:0.361:0.0	.	160	Q8IYI8	ZN440_HUMAN	G	160;38;163;162	ENSP00000305373:R160G;ENSP00000404425:R38G;ENSP00000393489:R163G;ENSP00000411974:R162G	ENSP00000305373:R160G	R	+	1	2	ZNF440	11803469	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.943000	0.03917	-1.616000	0.01572	-1.231000	0.01572	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	1	0	1	157	700	0	230	1	9.941743e-01	16	21	0	230	2		0	0	0	0	0	2	1	1	152	688	0	227	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF700	90592	broad.mit.edu	37	19	12059625	12059625	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12059625T>C	ENST00000254321.5	+	4	929	c.786T>C	c.(784-786)tcT>tcC	p.S262S	ZNF700_ENST00000482090.1_Silent_p.S244S|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700		ZNF700/MAST1_ENST00000251472(2)	33					TTACTTATTCTGCTACCCTTC	0.358000																								0							SO:0001819	synonymous_variant			ENST00000254321.5	1	1	hg19	CCDS32915.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	1	0	1	36	207	0	70	1	9.496077e-01	6	25	0	70	2		0	0	0	0	0	2	1	1	35	203	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
ZNF700	90592	broad.mit.edu	37	19	12060148	12060148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12060148G>A	ENST00000254321.5	+	4	1452	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	ZNF700_ENST00000482090.1_Missense_Mutation_p.G419S|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700		ZNF700/MAST1_ENST00000251472(2)	33					TCGAGTGCACGGTGGGACTCA	0.483000																								0							SO:0001583	missense			ENST00000254321.5	0	1	hg19	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	7.306	0.614090	0.14066	.	.	ENSG00000196757	ENST00000254321	T	0.35236	1.32	0.527	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12603	0.0306	N	0.02539	-0.55	0.09310	N	1	P	0.38729	0.644	B	0.36289	0.221	T	0.13575	-1.0504	9	0.66056	D	0.02	.	3.5455	0.07827	0.2333:0.4453:0.3214:0.0	.	437	Q9H0M5	ZN700_HUMAN	S	437	ENSP00000254321:G437S	ENSP00000254321:G437S	G	+	1	0	ZNF700	11921148	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.369000	0.07533	-0.421000	0.07416	-1.098000	0.02139	GGT		TCGA-IB-7651-01A-11D-2154-08	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	0	0	0	9	422	0	119	0	2.043227e-01	0	36	0	119	2		0	0	0	0	0	2	1	9.940144e-01	9	417	0	119	2								-2.887064	1	1	121412	2	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.260000	0.120000	1.000000	0.250000	0.330033	0.260000	0	1.800000e-01	3.900000e-01
STK11	6794	broad.mit.edu	37	19	1206967	1206967	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1206967T>C	ENST00000326873.7	+	1	1228	c.55T>C	c.(55-57)Tcg>Ccg	p.S19P	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	p.0?(20)|p.?(3)		328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)			CGAGCTGATGTCGGTGGGTAT	0.662000		14	D, Mis, N, F, S		NSCLC, pancreatic	jejunal harmartoma, ovarian, testicular, pancreatic			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		E, M, O	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	ENST00000326873.7	1	1	hg19	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165459	0.57476	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.87571	-2.27	3.9	2.84	0.33178	.	0.000000	0.51477	D	0.000089	T	0.80763	0.4685	L	0.44542	1.39	0.41654	D	0.989144	B	0.06786	0.001	B	0.08055	0.003	T	0.72450	-0.4290	10	0.44086	T	0.13	-9.5019	9.3951	0.38397	0.0:0.0:0.1802:0.8198	.	19	Q15831	STK11_HUMAN	P	19	ENSP00000324856:S19P	ENSP00000324856:S19P	S	+	1	0	STK11	1157967	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.717000	0.54911	0.362000	0.24319	0.379000	0.24179	TCG		TCGA-IB-7651-01A-11D-2154-08	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	1	0	1	16	72	0	17	1	9.999996e-01	42	99	0	17	2	1	1	116	587	0	615	2	1	9.999544e-01	16	70	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999733	0.990000	1	9.900000e-01	1
ZNF763	284390	broad.mit.edu	37	19	12089241	12089241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089241G>A	ENST00000358987.3	+	4	629	c.502G>A	c.(502-504)Gga>Aga	p.G168R	ZNF763_ENST00000343949.5_Missense_Mutation_p.G171R|ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R|ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R			Q0D2J5	ZN763_HUMAN	zinc finger protein 763			15					GAATCACACCGGAGAGAAACC	0.428000																								0							SO:0001583	missense			ENST00000358987.3	1	0	hg19		3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	a	9.824	1.186558	0.21870	0.003188	0.002093	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	1.68	0.523	0.17060	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16128	0.0388	L	0.48362	1.52	0.21915	N	0.999476	B;B;P	0.34977	0.06;0.024;0.478	B;B;B	0.17722	0.019;0.017;0.017	T	0.15435	-1.0437	9	0.59425	D	0.04	.	4.247	0.10675	0.403:0.0:0.597:0.0	.	188;168;171	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	R	188;171;46;168	ENSP00000438117:G188R;ENSP00000369774:G171R;ENSP00000446166:G46R;ENSP00000402017:G168R	ENSP00000369774:G171R	G	+	1	0	ZNF763	11950241	0.002000	0.14202	0.018000	0.16275	0.088000	0.18126	0.870000	0.28010	0.031000	0.15407	0.195000	0.17529	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	0	0	1	145	594	0	173	1	4.871818e-01	2	6	0	173	2		0	0	0	0	0	2	1	1	140	585	0	169	2								-2.604612	1	1	121404	132	57	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF763	284390	broad.mit.edu	37	19	12089805	12089805	+	Missense_Mutation	SNP	C	C	T	rs7250894	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089805C>T	ENST00000358987.3	+	4	1193	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	ZNF763_ENST00000343949.5_Missense_Mutation_p.R359C|ZNF763_ENST00000538752.1_Missense_Mutation_p.R376C|ZNF763_ENST00000545530.1_Missense_Mutation_p.R234C|ZNF763_ENST00000590798.1_Missense_Mutation_p.R376C			Q0D2J5	ZN763_HUMAN	zinc finger protein 763			15					CAGTTCCCTTCGTAGACATGA	0.398000																								0							SO:0001583	missense			ENST00000358987.3	1	0	hg19		.	.	.	.	.	.	.	.	.	.	c	11.15	1.553227	0.27739	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	1.41	-2.81	0.05805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28764	0.0713	L	0.46819	1.47	0.09310	N	1	D;D;B	0.89917	1.0;1.0;0.115	D;D;B	0.77557	0.99;0.976;0.008	T	0.18272	-1.0342	9	0.72032	D	0.01	.	1.0161	0.01508	0.4737:0.2025:0.162:0.1619	.	376;356;359	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	C	376;359;234;356	ENSP00000438117:R376C;ENSP00000369774:R359C;ENSP00000446166:R234C;ENSP00000402017:R356C	ENSP00000369774:R359C	R	+	1	0	ZNF763	11950805	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.127000	0.15790	-0.819000	0.04323	0.205000	0.17691	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	1	0	1	96	463	0	113	0	3.015079e-02	0	2	0	113	2		0	0	0	0	0	2	1	1	96	456	0	112	2								-2.783919	1	1	121302	2019	67	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF433	163059	broad.mit.edu	37	19	12125671	12125671	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125671C>A	ENST00000344980.6	-	4	2181	c.2011G>T	c.(2011-2013)Gac>Tac	p.D671Y	ZNF433_ENST00000419886.2_Missense_Mutation_p.D636Y|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433			14					tatgggGTGTCTATGCAGTGA	0.478000																								0							SO:0001583	missense			ENST00000344980.6	0	1	hg19	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743643	0.15642	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.07021	3.23;3.35	0.839	-0.352	0.12598	Zinc finger, C2H2 (1);	.	.	.	.	T	0.07413	0.0187	L	0.50847	1.595	0.09310	N	1	B	0.28713	0.22	B	0.23018	0.043	T	0.31503	-0.9941	9	0.87932	D	0	.	4.5031	0.11874	0.0:0.7341:0.0:0.2659	.	671	Q8N7K0	ZN433_HUMAN	Y	636;671	ENSP00000393416:D636Y;ENSP00000339767:D671Y	ENSP00000339767:D671Y	D	-	1	0	ZNF433	11986671	0.121000	0.22262	0.000000	0.03702	0.172000	0.22775	0.868000	0.27982	-0.104000	0.12154	0.313000	0.20887	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	0	0	1	13	45	0	14	0	0	1	0	0	14	2		0	0	0	0	0	2	1	9.996726e-01	13	43	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999792	0.990000	1	9.900000e-01	1
ZNF433	163059	broad.mit.edu	37	19	12125782	12125782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125782G>A	ENST00000344980.6	-	4	2070	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	ZNF433_ENST00000419886.2_Nonsense_Mutation_p.R599*|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433			14					CCATGCCTTCGAAGGTTTGAG	0.443000																								0							SO:0001587	stop_gained			ENST00000344980.6	0	1	hg19	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	36	5.838562	0.97009	0.001136	0.0	ENSG00000197647	ENST00000419886;ENST00000344980	.	.	.	1.35	-2.71	0.05986	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	0.4753	0.00538	0.2561:0.1476:0.3216:0.2746	.	.	.	.	X	599;634	.	ENSP00000339767:R634X	R	-	1	2	ZNF433	11986782	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-2.246000	0.01191	-1.887000	0.01115	0.313000	0.20887	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	1	0	1	63	284	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	62	275	0	71	2								-3.177082	1	1	121394	16	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF878	729747	broad.mit.edu	37	19	12154660	12154660	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12154660G>A	ENST00000547628.1	-	4	1693	c.1556C>T	c.(1555-1557)gCc>gTc	p.A519V	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.A566V	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878			8					AAGGATTGAGGCAGATCTAAA	0.403000																								0							SO:0001583	missense			ENST00000547628.1	1	1	hg19	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	3.265	-0.150337	0.06585	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.28069	1.63	1.49	-2.97	0.05530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15912	0.0383	L	0.31420	0.93	0.09310	N	1	P	0.44734	0.842	B	0.36922	0.236	T	0.05007	-1.0912	9	0.40728	T	0.16	.	4.1742	0.10345	0.4878:0.0:0.2714:0.2408	.	519	C9JN71	ZN878_HUMAN	V	519;566	ENSP00000447931:A519V	ENSP00000447931:A519V	A	-	2	0	AC022415.4;ZNF878	12015660	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.020000	0.13466	-2.235000	0.00714	-1.925000	0.00514	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	1	0	0	16	186	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.999424e-01	16	185	0	46	2								-19.969830	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.970000	0.570000	1.000000	1.000000	0.901126	0.970000	1	7.500000e-01	1
ZNF878	729747	broad.mit.edu	37	19	12155662	12155662	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12155662G>T	ENST00000547628.1	-	4	691	c.554C>A	c.(553-555)tCt>tAt	p.S185Y	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S232Y	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878			8					TCTACGAACAGAACTGGGAAA	0.398000																								0							SO:0001583	missense			ENST00000547628.1	1	1	hg19	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	G	1.280	-0.610728	0.03690	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07567	3.18	1.3	-2.6	0.06190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.25992	0.78	0.09310	N	1	D	0.64830	0.994	P	0.61658	0.892	T	0.17471	-1.0368	9	0.14656	T	0.56	.	3.84	0.08911	0.2036:0.0:0.1891:0.6073	.	185	C9JN71	ZN878_HUMAN	Y	185;232	ENSP00000447931:S185Y	ENSP00000447931:S185Y	S	-	2	0	AC022415.4;ZNF878	12016662	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.401000	0.07232	-0.859000	0.04105	-0.656000	0.03901	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	1	0	1	164	823	0	214		0	0	0	0	214	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF625	90589	broad.mit.edu	37	19	12256281	12256281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12256281T>C	ENST00000355738.1	-	4	1101	c.752A>G	c.(751-753)cAc>cGc	p.H251R	ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625			14					TGTTCGAAGGTGCGAGGCAGA	0.433000																								0							SO:0001583	missense			ENST00000355738.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	9.889	1.203583	0.22121	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.12984	2.63;2.63;2.63	1.13	-1.87	0.07737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	L	0.38692	1.165	0.09310	N	1	B;P	0.36162	0.011;0.54	B;B	0.34093	0.004;0.175	T	0.30031	-0.9992	9	0.25751	T	0.34	.	2.0453	0.03559	0.4188:0.0:0.3046:0.2765	.	251;251	A8K8U0;Q96I27	.;ZN625_HUMAN	R	251;251;317	ENSP00000438436:H251R;ENSP00000347977:H251R;ENSP00000394380:H317R	ENSP00000347977:H251R	H	-	2	0	AC022415.5	12117281	0.000000	0.05858	0.000000	0.03702	0.873000	0.50193	-8.705000	0.00017	-0.491000	0.06697	0.260000	0.18958	CAC		TCGA-IB-7651-01A-11D-2154-08	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	110	520	0	127	0	8.190775e-02	0	3	0	127	2		0	0	0	0	0	2	1	1	108	503	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF136	7695	broad.mit.edu	37	19	12298401	12298401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298401C>A	ENST00000343979.4	+	4	1348	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136			18					CCCTTTCATTCTCTGAGTCCA	0.383000																								0							SO:0001583	missense			ENST00000343979.4	1	1	hg19	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038960	0.08148	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.06608	3.28;3.28	1.4	-2.8	0.05823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.05487	-0.04	0.09310	N	1	P	0.43231	0.801	B	0.31191	0.125	T	0.45145	-0.9281	8	.	.	.	.	4.8689	0.13622	0.0:0.1802:0.4533:0.3665	.	403	P52737	ZN136_HUMAN	Y	403;337	ENSP00000344162:S403Y;ENSP00000381617:S337Y	.	S	+	2	0	ZNF136	12159401	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-3.496000	0.00451	-1.012000	0.03387	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	1	0	1	54	235	0	74	0	7.986399e-01	1	14	0	74	2		0	0	0	0	0	2	1	1	54	226	0	74	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF136	7695	broad.mit.edu	37	19	12298499	12298499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298499C>T	ENST00000343979.4	+	4	1446	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136			18					AACATCAATTCGAATACATGA	0.373000																								0							SO:0001587	stop_gained			ENST00000343979.4	0	1	hg19	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110029	0.94292	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.25	0.105	0.14535	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6072	0.02686	0.3018:0.3472:0.0:0.351	.	.	.	.	X	436;370	.	.	R	+	1	2	ZNF136	12159499	0.000000	0.05858	0.011000	0.14972	0.796000	0.44982	-0.138000	0.10374	0.066000	0.16515	-0.181000	0.13052	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	1	0	1	37	174	0	48	1	8.462045e-01	3	15	0	48	2		0	0	0	0	0	2	1	1	36	168	0	48	2								-19.977630	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C19orf26	255057	broad.mit.edu	37	19	1235045	1235045	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1235045G>A	ENST00000382477.2	-	5	666	c.392C>T	c.(391-393)gCg>gTg	p.A131V	C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V|C19orf26_ENST00000590083.1_Missense_Mutation_p.A137V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26			9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			AAACAGCGCCGCCTCATTGAA	0.697000										HNSCC(14;0.022)														0							SO:0001583	missense			ENST00000382477.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.75	3.691138	0.68271	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.64	3.64	0.41730	.	0.284806	0.32120	N	0.006547	T	0.54240	0.1846	N	0.14661	0.345	0.53005	D	0.999967	D	0.89917	1.0	D	0.69479	0.964	T	0.63019	-0.6730	9	0.72032	D	0.01	.	14.4186	0.67168	0.0:0.0:1.0:0.0	.	131	Q8N350-2	.	V	131	.	ENSP00000215376:A131V	A	-	2	0	C19orf26	1186045	1.000000	0.71417	0.975000	0.42487	0.171000	0.22731	8.771000	0.91751	2.026000	0.59711	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0	18	148	0	24	0	1.338405e-02	1	1	0	24	2		0	0	0	0	0	2	1	9.999846e-01	18	145	0	23	2								-20.000000	1	1	120706	16	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.810000	1.000000	1.000000	0.986022	0.990000	1	9.900000e-01	1
ZNF44	51710	broad.mit.edu	37	19	12383526	12383526	+	Missense_Mutation	SNP	C	C	T	rs61737485	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12383526C>T	ENST00000356109.5	-	5	1806	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	ZNF44_ENST00000355684.5_Missense_Mutation_p.R515H	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44			1		Renal(1328;0.157)			GTAACTGAAACGACTGAAGGC	0.388000																								0							SO:0001583	missense			ENST00000356109.5	1	0	hg19	CCDS54223.1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	C	4.542	0.100647	0.08731	0.029297	0.0	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.07327	3.2;3.2;3.2	0.997	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	L	0.38953	1.18	.	.	.	B;B	0.11235	0.004;0.003	B;B	0.09377	0.004;0.001	T	0.47611	-0.9104	8	0.11485	T	0.65	.	4.0631	0.09847	0.0:0.2338:0.1945:0.5717	.	563;515	P15621;F8W7T7	ZNF44_HUMAN;.	H	563;563;515;515	ENSP00000377008:R563H;ENSP00000348419:R563H;ENSP00000347910:R515H	ENSP00000347910:R515H	R	-	2	0	ZNF44	12244526	0.000000	0.05858	0.000000	0.03702	0.839000	0.47603	-5.789000	0.00098	-1.173000	0.02758	0.305000	0.20034	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	1	0	1	31	125	0	46	1	9.598356e-01	5	19	0	46	2		0	0	0	0	0	2	1	1	30	121	0	46	2								-2.574785	1	1	120974	321	55	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF563	147837	broad.mit.edu	37	19	12429836	12429836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12429836G>A	ENST00000293725.5	-	4	1208	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563			20					TTATGAGGTCGATCTCCAGTG	0.418000													GBM(39;623 795 5132 29510 31476)											0							SO:0001587	stop_gained			ENST00000293725.5	0	0	hg19	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	37	6.253265	0.97417	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	-2.0	0.07433	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7609	0.08603	0.0:0.1741:0.2295:0.5964	.	.	.	.	X	335	.	ENSP00000293725:R335X	R	-	1	2	ZNF563	12290836	0.000000	0.05858	0.004000	0.12327	0.944000	0.59088	-0.006000	0.12833	-0.855000	0.04125	0.313000	0.20887	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	1	0	1	155	744	1	201	1	8.977330e-01	6	15	1	201	2		0	0	0	0	0	2	1	1	150	734	0	200	2								-3.230311	1	1	121412	71	51	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF799	90576	broad.mit.edu	37	19	12503438	12503438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12503438C>A	ENST00000430385.3	-	3	370	c.170G>T	c.(169-171)aGa>aTa	p.R57I	ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.R25I|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R57I	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799			19					CCTGGGATATCTATATTGATC	0.299000																								0							SO:0001583	missense			ENST00000430385.3	0	1	hg19	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	5.363	0.252252	0.10185	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08458	3.09;3.2	1.18	-0.0066	0.14012	Krueppel-associated box (2);	.	.	.	.	T	0.04318	0.0119	N	0.17278	0.47	0.09310	N	1	B	0.19331	0.035	B	0.15484	0.013	T	0.41787	-0.9489	9	0.39692	T	0.17	.	2.2344	0.04004	0.0:0.2258:0.3164:0.4577	.	57	Q96GE5	ZN799_HUMAN	I	25;57	ENSP00000415278:R25I;ENSP00000411084:R57I	ENSP00000415278:R25I	R	-	2	0	ZNF799	12364438	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	-0.212000	0.09319	-0.027000	0.13873	-0.634000	0.03986	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	0	0	0	8	289	0	74	0	3.048074e-02	0	9	0	74	2		0	0	0	0	0	2	1	9.885640e-01	8	282	0	79	2								-3.490841	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.340000	0.150000	1.000000	0.320000	0.404017	0.340000	0	2.300000e-01	5.200000e-01
ZNF443	10224	broad.mit.edu	37	19	12541219	12541219	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541219T>C	ENST00000301547.5	-	4	1964	c.1767A>G	c.(1765-1767)gaA>gaG	p.E589E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443			28					ATTGTGGACATTCATAGGATT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000301547.5	1	1	hg19	CCDS32918.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	1	0	1	101	421	0	110	1	6.591088e-01	2	9	0	110	2		0	0	0	0	0	2	1	1	99	416	0	112	2								-20.000000	1	1	121406	3	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF443	10224	broad.mit.edu	37	19	12541361	12541361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541361C>T	ENST00000301547.5	-	4	1822	c.1625G>A	c.(1624-1626)gGt>gAt	p.G542D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443			28					ATCATAATGACCGAAGGCTTT	0.403000																								0							SO:0001583	missense			ENST00000301547.5	1	1	hg19	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	5.613	0.297925	0.10622	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07444	3.19	1.37	-1.44	0.08856	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.16066	0.365	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.41161	-0.9524	9	0.40728	T	0.16	.	4.9344	0.13934	0.567:0.2447:0.1883:0.0	.	542	Q9Y2A4	ZN443_HUMAN	D	542	ENSP00000301547:G542D	ENSP00000301547:G542D	G	-	2	0	ZNF443	12402361	0.000000	0.05858	0.011000	0.14972	0.069000	0.16628	-7.078000	0.00045	-0.289000	0.09038	0.461000	0.40582	GGT		TCGA-IB-7651-01A-11D-2154-08	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	0	0	0	17	477	0	101	0	2.547199e-02	0	7	0	101	2		0	0	0	0	0	2	1	9.999632e-01	18	471	0	99	2								-3.770120	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.420000	0.250000	1.000000	0.400000	0.472923	0.420000	0	3.200000e-01	5.700000e-01
ZNF443	10224	broad.mit.edu	37	19	12542335	12542335	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12542335T>G	ENST00000301547.5	-	4	848	c.651A>C	c.(649-651)agA>agC	p.R217S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443			28					CAGTGTGCGTTCTTTCATGCA	0.398000																								0							SO:0001583	missense			ENST00000301547.5	1	1	hg19	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510590	0.64522	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.24151	1.87	1.37	0.313	0.15842	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41488	0.1161	M	0.64676	1.99	0.21802	N	0.99954	D	0.89917	1.0	D	0.85130	0.997	T	0.16129	-1.0413	9	0.56958	D	0.05	.	5.5417	0.17041	0.0:0.1681:0.0:0.8319	.	217	Q9Y2A4	ZN443_HUMAN	S	217	ENSP00000301547:R217S	ENSP00000301547:R217S	R	-	3	2	ZNF443	12403335	0.000000	0.05858	0.016000	0.15963	0.662000	0.39071	-1.840000	0.01684	0.046000	0.15833	0.378000	0.23410	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	1	0	1	169	701	0	184	0	9.931997e-02	1	2	0	184	2		0	0	0	0	0	2	1	1	160	690	1	191	16								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF443	10224	broad.mit.edu	37	19	12543223	12543223	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12543223T>G	ENST00000301547.5	-	3	356	c.159A>C	c.(157-159)gaA>gaC	p.E53D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443			28					TATATTGATCTTCAATGTTCT	0.294000																								0							SO:0001583	missense			ENST00000301547.5	1	1	hg19	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336043	0.24253	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.00873	5.59	1.28	0.133	0.14766	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	L	0.39326	1.205	0.20638	N	0.999871	B	0.14012	0.009	B	0.13407	0.009	T	0.45101	-0.9284	9	0.31617	T	0.26	.	5.4506	0.16563	0.0:0.0:0.2877:0.7123	.	53	Q9Y2A4	ZN443_HUMAN	D	53	ENSP00000301547:E53D	ENSP00000301547:E53D	E	-	3	2	ZNF443	12404223	0.006000	0.16342	0.085000	0.20634	0.318000	0.28184	0.267000	0.18552	0.007000	0.14760	-0.827000	0.03088	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	1	0	1	18	156	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	9.999817e-01	18	150	0	70	2								-8.754761	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.770000	1.000000	1.000000	0.980159	0.990000	1	9.800000e-01	1
ZNF709	163051	broad.mit.edu	37	19	12575729	12575729	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12575729T>C	ENST00000397732.3	-	4	1178	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709			6					CTTACAATCATAGGGTTTCTC	0.358000													GBM(33;565 669 12371 29134 51667)											0							SO:0001583	missense			ENST00000397732.3	1	1	hg19	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.349899	0.41599	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.25414	1.8;1.8	2.71	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32314	N	0.006261	T	0.31136	0.0787	M	0.78344	2.41	0.09310	N	1	P	0.36125	0.538	B	0.43194	0.411	T	0.25779	-1.0122	10	0.87932	D	0	.	4.0244	0.09680	0.0:0.1249:0.2126:0.6625	.	336	Q8N972	ZN709_HUMAN	C	336	ENSP00000380840:Y336C;ENSP00000404127:Y336C	ENSP00000404127:Y336C	Y	-	2	0	ZNF709;CTD-2192J16.17	12436729	0.002000	0.14202	0.664000	0.29753	0.994000	0.84299	0.025000	0.13577	0.481000	0.27557	0.383000	0.25322	TAT		TCGA-IB-7651-01A-11D-2154-08	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	1	0	0	29	401	0	88	0	2.698141e-02	0	4	0	88	2		0	0	0	0	0	2	1	1	29	398	0	88	2								-20.000000	1	1	121342	1	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.810000	0.550000	1.000000	1.000000	0.822365	0.810000	0	6.700000e-01	1
ZNF709	163051	broad.mit.edu	37	19	12576512	12576512	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12576512T>G	ENST00000397732.3	-	4	395	c.224A>C	c.(223-225)gAa>gCa	p.E75A	ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709			6					CTGACTACCTTCTTTCCTTTC	0.328000													GBM(33;565 669 12371 29134 51667)											0							SO:0001583	missense			ENST00000397732.3	1	1	hg19	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.178007	0.57692	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.05855	3.38;5.1;3.38	2.81	2.81	0.32909	Krueppel-associated box (1);	1.016590	0.07923	N	0.976251	T	0.10423	0.0255	L	0.57536	1.79	0.24101	N	0.99588	P	0.52316	0.952	B	0.43950	0.437	T	0.28713	-1.0035	10	0.62326	D	0.03	.	9.3748	0.38277	0.0:0.0:0.0:1.0	.	75	Q8N972	ZN709_HUMAN	A	75;104;75	ENSP00000380840:E75A;ENSP00000398085:E104A;ENSP00000404127:E75A	ENSP00000404127:E75A	E	-	2	0	ZNF709;CTD-2192J16.17	12437512	0.007000	0.16637	0.633000	0.29310	0.263000	0.26337	1.824000	0.39072	1.542000	0.49330	0.260000	0.18958	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	1	0	1	43	148	0	37	0	1.336960e-01	0	3	0	37	2		0	0	0	0	0	2	1	1	42	145	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF564	163050	broad.mit.edu	37	19	12638554	12638554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12638554C>A	ENST00000339282.7	-	4	564	c.368G>T	c.(367-369)aGa>aTa	p.R123I	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564			18					AAGGTGAGATCTGATGTGCCT	0.383000																								0							SO:0001583	missense			ENST00000339282.7	1	1	hg19	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272807	0.59649	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.71	-2.2	0.06994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	M	0.68952	2.095	0.09310	N	0.999995	B	0.24576	0.106	B	0.34931	0.192	T	0.48896	-0.8994	9	0.66056	D	0.02	.	0.3553	0.00355	0.1979:0.2175:0.1971:0.3876	.	123	Q8TBZ8	ZN564_HUMAN	I	123	ENSP00000340004:R123I	ENSP00000340004:R123I	R	-	2	0	ZNF564	12499554	0.000000	0.05858	0.001000	0.08648	0.889000	0.51656	-1.537000	0.02206	-0.514000	0.06488	0.643000	0.83706	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	1	0	1	78	320	0	72	1	9.902935e-01	9	23	0	72	2		0	0	0	0	0	2	1	1	76	314	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF490	57474	broad.mit.edu	37	19	12692016	12692016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12692016C>A	ENST00000311437.6	-	5	995	c.873G>T	c.(871-873)caG>caT	p.Q291H	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490			18					TTAGAAAAGGCTGGTAATATA	0.428000																								0							SO:0001583	missense			ENST00000311437.6	1	1	hg19	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	4.383	0.070744	0.08436	.	.	ENSG00000188033	ENST00000311437	T	0.08984	3.03	0.996	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.12887	0.27	0.09310	N	1	P	0.47034	0.889	B	0.40565	0.333	T	0.25779	-1.0122	9	0.87932	D	0	.	2.6343	0.04953	0.2996:0.2591:0.0:0.4413	.	291	Q9ULM2	ZN490_HUMAN	H	291	ENSP00000311521:Q291H	ENSP00000311521:Q291H	Q	-	3	2	ZNF490	12553016	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-6.240000	0.00074	-1.451000	0.01933	-0.339000	0.08088	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	0	0	1	75	358	0	92	0	4.825310e-01	1	8	0	92	2		0	0	0	0	0	2	1	1	73	353	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF490	57474	broad.mit.edu	37	19	12694290	12694290	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12694290G>A	ENST00000311437.6	-	3	365	c.243C>T	c.(241-243)atC>atT	p.I81I	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490			18					CATCTCTGTAGATATTCCTCT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000311437.6	1	1	hg19	CCDS12272.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	1	0	0	26	564	0	109	0	1.951069e-02	0	5	0	109	2		0	0	0	0	0	2	1	9.999999e-01	25	551	0	109	2								-3.290689	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.530000	0.350000	1.000000	0.520000	0.574334	0.530000	0	4.300000e-01	6.800000e-01
ZNF791	163049	broad.mit.edu	37	19	12738624	12738624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12738624C>T	ENST00000343325.4	+	4	443	c.281C>T	c.(280-282)aCt>aTt	p.T94I	ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791			19					ACGAAGAAGACTGCCGGAGTA	0.443000																								0							SO:0001583	missense			ENST00000343325.4	1	1	hg19	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	0.496	-0.873322	0.02570	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122	T;T	0.06294	3.42;3.32	1.22	0.0184	0.14117	.	.	.	.	.	T	0.04227	0.0117	N	0.16656	0.425	0.09310	N	0.999994	B	0.16166	0.016	B	0.19391	0.025	T	0.41034	-0.9531	9	0.62326	D	0.03	.	6.1824	0.20478	0.2991:0.7009:0.0:0.0	.	94	Q3KP31	ZN791_HUMAN	I	94;94;62	ENSP00000342974:T94I;ENSP00000441761:T62I	ENSP00000342974:T94I	T	+	2	0	ZNF791	12599624	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.071000	0.14594	0.052000	0.16007	0.484000	0.47621	ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	1	0	1	161	684	0	193	1	9.982441e-01	10	32	0	193	2		0	0	0	0	0	2	1	1	161	668	0	191	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF791	163049	broad.mit.edu	37	19	12739034	12739034	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12739034A>T	ENST00000343325.4	+	4	853	c.691A>T	c.(691-693)Att>Ttt	p.I231F	ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791			19					TTCCAGTTCTATTCGAGTACA	0.423000																								0							SO:0001583	missense			ENST00000343325.4	1	1	hg19	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	6.249	0.413989	0.11870	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.08282	3.11;3.11;3.11	1.83	0.603	0.17541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.03294	-0.36	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.42766	-0.9432	9	0.40728	T	0.16	.	2.4812	0.04587	0.3467:0.4553:0.0:0.198	.	231	Q3KP31	ZN791_HUMAN	F	231;213;199;122	ENSP00000342974:I231F;ENSP00000441761:I199F;ENSP00000441038:I122F	ENSP00000342974:I231F	I	+	1	0	ZNF791	12600034	0.004000	0.15560	0.980000	0.43619	0.804000	0.45430	0.000000	0.12993	0.036000	0.15547	0.402000	0.26972	ATT		TCGA-IB-7651-01A-11D-2154-08	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	1	0	1	65	255	0	69	1	9.945446e-01	6	28	0	69	2		0	0	0	0	0	2	1	1	64	252	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR83	84292	broad.mit.edu	37	19	12784068	12784068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12784068C>T	ENST00000418543.3	+	10	1085	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	WDR83_ENST00000242796.4_Missense_Mutation_p.R246C|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	p.R246C(1)		4					CCTGAGCGAGCGTGACACACA	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000418543.3	1	1	hg19	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866536	0.72065	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.81247	-1.47;-1.47	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.174525	0.50627	D	0.000101	T	0.78175	0.4242	N	0.25825	0.765	0.49299	D	0.999771	D	0.63046	0.992	P	0.54174	0.744	T	0.79776	-0.1661	10	0.59425	D	0.04	.	11.6736	0.51417	0.2845:0.7154:0.0:0.0	.	246	Q9BRX9	WDR83_HUMAN	C	246	ENSP00000402653:R246C;ENSP00000242796:R246C	ENSP00000242796:R246C	R	+	1	0	WDR83	12645068	1.000000	0.71417	0.984000	0.44739	0.564000	0.35744	4.499000	0.60380	2.549000	0.85964	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	1	0	1	71	324	0	98	1	9.999957e-01	23	61	0	98	2		0	0	0	0	0	2	1	1	70	316	0	96	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHPS	1725	broad.mit.edu	37	19	12790297	12790297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12790297C>A	ENST00000210060.7	-	5	787	c.652G>T	c.(652-654)Gag>Tag	p.E218*	DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*|DHPS_ENST00000599481.1_5'Flank	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase			8					TACACGGACTCTGGGTTGTTG	0.537000																								0							SO:0001587	stop_gained			ENST00000210060.7	0	1	hg19	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500388	0.97616	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	.	.	.	5.45	5.45	0.79879	.	0.268691	0.41605	D	0.000852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.7813	16.7611	0.85512	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000210060:E218X	E	-	1	0	DHPS	12651297	1.000000	0.71417	0.907000	0.35723	0.963000	0.63663	7.375000	0.79646	2.546000	0.85860	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	1	0	1	225	982	0	215	1	1	4	169	0	215	2		0	0	0	0	0	2	1	1	221	954	0	213	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXW9	84261	broad.mit.edu	37	19	12800936	12800936	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12800936A>T	ENST00000380339.3	-	6	998	c.962T>A	c.(961-963)aTc>aAc	p.I321N	CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Missense_Mutation_p.I311N|FBXW9_ENST00000393261.3_Intron|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000544494.1_Intron			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9			7					TTCATGGGTGATGGGCCGGTG	0.632000																								0							SO:0001583	missense			ENST00000380339.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.55	1.380447	0.24944	.	.	ENSG00000132004	ENST00000380339	T	0.48522	0.81	3.58	0.0602	0.14335	.	3.720110	0.01781	U	0.031735	T	0.31199	0.0789	.	.	.	0.09310	N	1	B	0.32160	0.358	B	0.29440	0.102	T	0.13124	-1.0521	8	.	.	.	.	5.5629	0.17154	0.5412:0.0:0.4588:0.0	.	311	Q5XUX1-2	.	N	321	ENSP00000369696:I321N	.	I	-	2	0	FBXW9	12661936	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.229000	0.17833	0.071000	0.16664	0.402000	0.26972	ATC		TCGA-IB-7651-01A-11D-2154-08	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	64	263	0	68	0	0	0	1	0	68	2		0	0	0	0	0	2	1	1	63	262	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNPO2	30000	broad.mit.edu	37	19	12812936	12812936	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12812936G>A	ENST00000592287.1	-	21	2469	c.2361C>T	c.(2359-2361)taC>taT	p.Y787Y	TNPO2_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000588216.1_Silent_p.Y777Y|TNPO2_ENST00000425528.1_Silent_p.Y787Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2			28					GGGGGCACACGTAGCCCAAGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000592287.1	1	0	hg19	CCDS45991.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	0	0	1	42	173	0	27	1	1	37	89	0	27	2		0	0	0	0	0	2	1	1	41	172	0	26	2								-20.000000	1	1	121152	13	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C19orf43	79002	broad.mit.edu	37	19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12842217C>T	ENST00000242784.4	-	2	481	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43			4					AGTTTGTTCCCGCCTCTGCGT	0.597000																								0							SO:0001583	missense			ENST00000242784.4	1	1	hg19	CCDS12279.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.799070	0.90538	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.66297	2.02	0.37342	D	0.910419	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	9	0.87932	D	0	-13.0597	18.0139	0.89232	0.0:1.0:0.0:0.0	.	122	Q9BQ61	CS043_HUMAN	R	122	.	ENSP00000242784:G122R	G	-	1	0	C19orf43	12703217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	1	0	1	68	308	1	65	1	1	90	301	1	65	19		0	0	0	0	0	2	1	1	64	303	1	65	19								-2.631014	1	1	121412	2	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BEST2	54831	broad.mit.edu	37	19	12863439	12863439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12863439C>T	ENST00000549706.1	+	2	357	c.33C>T	c.(31-33)aaC>aaT	p.N11N	BEST2_ENST00000042931.1_Silent_p.N11N|BEST2_ENST00000553030.1_Silent_p.N11N			Q8NFU1	BEST2_HUMAN	bestrophin 2			12					GAGTGGCGAACGCCCGCTTCG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000549706.1	1	1	hg19	CCDS42506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	1	0	0	57	305	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	58	303	0	57	2								-2.816328	1	1	121074	5	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BEST2	54831	broad.mit.edu	37	19	12865583	12865583	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12865583C>G	ENST00000549706.1	+	4	789	c.465C>G	c.(463-465)gaC>gaG	p.D155E	BEST2_ENST00000042931.1_Missense_Mutation_p.D155E|BEST2_ENST00000553030.1_Missense_Mutation_p.D155E			Q8NFU1	BEST2_HUMAN	bestrophin 2			12					CCACCATAGACCACGTGGTGG	0.667000																								0							SO:0001583	missense			ENST00000549706.1	0	0	hg19	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831261	0.32329	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98280	-4.84;-4.84;-4.84	4.24	0.872	0.19113	.	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	N	0.05510	-0.035	0.42002	D	0.990899	B	0.20261	0.043	B	0.23716	0.048	D	0.83435	0.0040	10	0.17832	T	0.49	-31.6577	8.4859	0.33071	0.0:0.7309:0.0:0.2691	.	155	Q8NFU1	BEST2_HUMAN	E	155	ENSP00000448310:D155E;ENSP00000447203:D155E;ENSP00000042931:D155E	ENSP00000042931:D155E	D	+	3	2	BEST2	12726583	0.980000	0.34600	0.999000	0.59377	0.981000	0.71138	0.270000	0.18607	0.049000	0.15920	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	1	0	1	5	37	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.377002e-01	5	36	0	8	2								-11.268800	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.560000	1.000000	1.000000	0.954146	0.990000	1	9.100000e-01	1
HOOK2	29911	broad.mit.edu	37	19	12874525	12874525	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12874525C>A	ENST00000397668.3	-	21	1968	c.1895G>T	c.(1894-1896)aGg>aTg	p.R632M	HOOK2_ENST00000264827.5_Missense_Mutation_p.R630M|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2			20					GAGCTGTGTCCTCAGGGAATG	0.597000																								0							SO:0001583	missense			ENST00000397668.3	1	1	hg19	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599770	0.46318	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19250	2.16;2.16	5.72	3.61	0.41365	.	0.109028	0.64402	D	0.000010	T	0.27419	0.0673	M	0.65975	2.015	0.28849	N	0.896173	P;P	0.42203	0.731;0.773	B;P	0.44518	0.323;0.452	T	0.16988	-1.0384	10	0.87932	D	0	-23.7645	10.0714	0.42335	0.0:0.8369:0.0:0.1631	.	630;632	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	632;630	ENSP00000380785:R632M;ENSP00000264827:R630M	ENSP00000264827:R630M	R	-	2	0	HOOK2	12735525	1.000000	0.71417	0.963000	0.40424	0.124000	0.20399	1.053000	0.30442	1.424000	0.47217	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	1	0	1	93	389	0	87	1	1	60	64	0	87	2		0	0	0	0	0	2	1	1	93	384	0	86	2								-3.039555	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOOK2	29911	broad.mit.edu	37	19	12881839	12881839	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12881839T>C	ENST00000397668.3	-	10	882	c.809A>G	c.(808-810)gAg>gGg	p.E270G	HOOK2_ENST00000264827.5_Missense_Mutation_p.E270G|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2			20					AACCTCCCTCTCCAGCTCGGC	0.667000																								0							SO:0001583	missense			ENST00000397668.3	1	1	hg19	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.208267	0.79240	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.25414	1.8;1.8	4.8	4.8	0.61643	.	0.127143	0.50627	D	0.000108	T	0.49218	0.1544	M	0.85462	2.755	0.41274	D	0.98686	P;P	0.50819	0.925;0.939	P;P	0.56278	0.691;0.795	T	0.58940	-0.7547	10	0.87932	D	0	-19.5424	13.3357	0.60516	0.0:0.0:0.0:1.0	.	270;270	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	G	270	ENSP00000380785:E270G;ENSP00000264827:E270G	ENSP00000264827:E270G	E	-	2	0	HOOK2	12742839	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.687000	0.84139	1.804000	0.52760	0.373000	0.22412	GAG		TCGA-IB-7651-01A-11D-2154-08	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	1	0	1	22	135	0	39	1	9.999873e-01	44	76	0	39	2		0	0	0	0	0	2	1	9.999990e-01	22	131	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999263	0.990000	1	9.900000e-01	1
JUNB	3726	broad.mit.edu	37	19	12903500	12903500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12903500C>T	ENST00000302754.4	+	1	1191	c.915C>T	c.(913-915)gcC>gcT	p.A305A		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene			6					CGCTCAAGGCCGAGAACGCGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000302754.4	0	1	hg19	CCDS12280.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	0	0	1	4	35	0	11	1	9.999953e-01	118	470	0	11	2		0	0	0	0	0	2	1	8.938682e-01	4	35	0	11	2								-10.096210	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.440000	1.000000	1.000000	0.919310	0.990000	1	7.700000e-01	1
PRDX2	7001	broad.mit.edu	37	19	12910731	12910731	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12910731G>A	ENST00000301522.2	-	5	581	c.453C>T	c.(451-453)tcC>tcT	p.S151S	PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2			4					CCTCATCCACGGAGCGTCCCA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000301522.2	1	1	hg19	CCDS12281.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	0	0	0	9	377	0	100	1	9.999810e-01	39	979	0	100	2		0	0	0	0	0	2	1	9.938535e-01	9	370	0	98	2								-2.979187	1	1	121412	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.290000	0.140000	1.000000	0.270000	0.358576	0.290000	0	2.000000e-01	4.400000e-01
RNASEH2A	10535	broad.mit.edu	37	19	12924273	12924273	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12924273G>T	ENST00000221486.4	+	8	987	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A			14					TCAGCAACCAGCCTCTAGCAG	0.532000																								0							SO:0001583	missense			ENST00000221486.4	1	1	hg19	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	9.021	0.984866	0.18889	.	.	ENSG00000104889	ENST00000221486	D	0.82984	-1.67	4.06	-5.83	0.02325	.	1.265410	0.05450	N	0.549285	T	0.71736	0.3375	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53878	-0.8376	10	0.39692	T	0.17	-2.3073	2.6883	0.05113	0.1069:0.1625:0.392:0.3386	.	298	O75792	RNH2A_HUMAN	I	298	ENSP00000221486:S298I	ENSP00000221486:S298I	S	+	2	0	RNASEH2A	12785273	0.000000	0.05858	0.017000	0.16124	0.800000	0.45204	-0.203000	0.09438	-0.960000	0.03613	-0.211000	0.12701	AGC		TCGA-IB-7651-01A-11D-2154-08	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	1	0	1	33	306	0	89	1	9.984709e-01	23	70	0	89	2		0	0	0	0	0	2	1	1	32	300	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.820000	1.000000	1.000000	0.984037	0.990000	1	9.800000e-01	1
MAST1	22983	broad.mit.edu	37	19	12958425	12958425	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12958425G>T	ENST00000251472.4	+	6	527		c.e6-1		MAST1_ENST00000591495.1_Splice_Site	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1			56					TCTCCCCGCAGCCCCGGGCGC	0.617000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000251472.4	1	1	hg19	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329179	0.81690	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	.	.	.	4.66	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.227	0.54465	0.0:0.0:0.8282:0.1718	.	.	.	.	.	-1	.	.	.	+	.	.	MAST1	12819425	1.000000	0.71417	0.979000	0.43373	0.827000	0.46813	9.693000	0.98684	1.083000	0.41159	0.491000	0.48974	.		TCGA-IB-7651-01A-11D-2154-08	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	1	0	1	38	282	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	37	278	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999064	0.990000	1	9.900000e-01	1
MAST1	22983	broad.mit.edu	37	19	12963203	12963203	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12963203C>T	ENST00000251472.4	+	10	1110	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MAST1_ENST00000591495.1_Silent_p.L353L	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1			56					AAGACGATCTCTCTGAGGTAA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000251472.4	1	1	hg19	CCDS32921.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	1	0	1	53	273	0	70	0	1.301836e-01	0	4	0	70	2		0	0	0	0	0	2	1	1	52	269	0	68	2								-3.096801	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAST1	22983	broad.mit.edu	37	19	12976850	12976850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12976850C>T	ENST00000251472.4	+	17	2002	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1			56					CTGGACAGGGCTGCTGAGGCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000251472.4	1	1	hg19	CCDS32921.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	0	0	0	10	268	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	9.967983e-01	10	264	0	50	2								-11.144910	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.450000	0.220000	1.000000	0.420000	0.502123	0.450000	0	3.200000e-01	6.500000e-01
MAST1	22983	broad.mit.edu	37	19	12977513	12977513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12977513C>T	ENST00000251472.4	+	18	2115	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1			56					ACGAGGATGACACGACGGAGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000251472.4	1	1	hg19	CCDS32921.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	1	0	1	20	151	0	34	0	4.200917e-02	0	3	0	34	2		0	0	0	0	0	2	1	9.999959e-01	20	147	0	34	2								-20.000000	1	1	121408	2	23	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.890000	1.000000	1.000000	0.993834	0.990000	1	9.900000e-01	1
GCDH	2639	broad.mit.edu	37	19	13004378	13004378	+	Missense_Mutation	SNP	C	C	T	rs139851890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13004378C>T	ENST00000222214.5	+	6	627	c.416C>T	c.(415-417)tCg>tTg	p.S139L	GCDH_ENST00000457854.1_Missense_Mutation_p.S139L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L|GCDH_ENST00000422947.2_Missense_Mutation_p.S95L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase			19				Flavin adenine dinucleotide(DB03147)	GGCTACAGGTCGGCGATGAGT	0.622000													GBM(123;875 1636 7726 16444 26754)											0		GRCh37	CM980855	GCDH	M	rs139851890	SO:0001583	missense			ENST00000222214.5	1	1	hg19	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491649	0.96339	2.27E-4	0.0	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99652	-6.3;-6.3;-6.3	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.985;1.0;1.0	D	0.98006	1.0363	10	0.87932	D	0	.	16.567	0.84601	0.0:1.0:0.0:0.0	.	95;106;139;139	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	L	139;139;106;95	ENSP00000394872:S139L;ENSP00000222214:S139L;ENSP00000394821:S95L	ENSP00000222214:S139L	S	+	2	0	GCDH	12865378	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	7.247000	0.78257	2.584000	0.87258	0.563000	0.77884	TCG		TCGA-IB-7651-01A-11D-2154-08	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1	0	0	1	49	418	1	77	1	9.377984e-01	9	88	1	77	6		0	0	0	0	0	2	1	1	49	407	0	76	2								-3.142702	1	1	121412	1	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.940000	1.000000	1.000000	0.996763	0.990000	1	9.900000e-01	1
GCDH	2639	broad.mit.edu	37	19	13008537	13008537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13008537C>A	ENST00000222214.5	+	11	1314	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y|GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase			19				Flavin adenine dinucleotide(DB03147)	GAGATGGTTTCTCTGCTGAAG	0.602000													GBM(123;875 1636 7726 16444 26754)											0							SO:0001583	missense			ENST00000222214.5	1	1	hg19	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334551	0.81801	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.96967	-4.19;-4.19;-4.19	5.6	5.6	0.85130	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.99794	4.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98591	1.0654	10	0.87932	D	0	.	17.0969	0.86637	0.0:1.0:0.0:0.0	.	324;204;368;368	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	Y	368;368;324	ENSP00000394872:S368Y;ENSP00000222214:S368Y;ENSP00000394821:S324Y	ENSP00000222214:S368Y	S	+	2	0	GCDH	12869537	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	7.420000	0.80191	2.644000	0.89710	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1	0	0	1	227	953	0	246	1	9.999985e-01	27	52	0	246	2		0	0	0	0	0	2	1	1	224	942	0	243	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYCE2	256126	broad.mit.edu	37	19	13015452	13015452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13015452C>A	ENST00000293695.7	-	3	178	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2			8					CCCGACTTCCCTTCCAGGACC	0.547000																								0							SO:0001583	missense			ENST00000293695.7	1	1	hg19	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229193	0.58777	.	.	ENSG00000161860	ENST00000293695	.	.	.	4.55	4.55	0.56014	.	0.566735	0.15904	N	0.238906	T	0.53932	0.1827	L	0.36672	1.1	0.28317	N	0.922397	D	0.89917	1.0	D	0.97110	1.0	T	0.48317	-0.9046	9	0.87932	D	0	0.0377	12.6762	0.56895	0.0:1.0:0.0:0.0	.	54	Q6PIF2	SYCE2_HUMAN	W	54	.	ENSP00000293695:G54W	G	-	1	0	SYCE2	12876452	0.984000	0.35163	0.999000	0.59377	0.764000	0.43329	1.881000	0.39638	2.353000	0.79882	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	0	0	0	24	700	0	178	0	7.029001e-03	1	3	0	178	2		0	0	0	0	0	2	1	9.999994e-01	23	672	0	176	2								-2.343747	0	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.400000	0.260000	1.000000	0.400000	0.454003	0.400000	0	3.200000e-01	5.200000e-01
CALR	811	broad.mit.edu	37	19	13054419	13054419	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13054419C>T	ENST00000316448.5	+	8	1102	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RAD23A_ENST00000592268.1_5'Flank|RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000541222.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000586534.1_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin			10				Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	AGGAGTTTGGCAACGAGACGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000316448.5	1	1	hg19	CCDS12288.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	1	0	1	48	254	0	76	1	1	1496	4266	0	76	2		0	0	0	0	0	2	1	1	45	246	0	76	2								-3.238852	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD23A	5886	broad.mit.edu	37	19	13059574	13059574	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13059574G>A	ENST00000586534.1	+	5	608	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)			12					GGTCGTGGCCGCCCTGAGAGC	0.632000								Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000586534.1	1	1	hg19	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032357	0.93575	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.64618	-0.11;-0.11	4.61	4.61	0.57282	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	D	0.91040	0.4870	10	0.72032	D	0.01	-43.2666	16.2132	0.82185	0.0:0.0:1.0:0.0	.	183;200;183	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	T	183;18	ENSP00000321365:A183T;ENSP00000438741:A18T	ENSP00000321365:A183T	A	+	1	0	RAD23A	12920574	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.974000	0.93433	2.110000	0.64415	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	1	0	1	189	830	0	189	1	1	139	389	0	189	2		0	0	0	0	0	2	1	1	187	822	0	187	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFIX	4784	broad.mit.edu	37	19	13192511	13192511	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13192511G>T	ENST00000592199.1	+	8	1096	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S|NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000358552.3_Missense_Mutation_p.A324S|NFIX_ENST00000588228.1_Missense_Mutation_p.A319S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)			11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		CCGGGCCACAGCATCAGCCCT	0.662000																								0							SO:0001583	missense			ENST00000592199.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.63	2.592520	0.46214	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	T;T	0.41758	0.99;0.99	5.8	5.8	0.92144	.	0.053036	0.85682	D	0.000000	T	0.56863	0.2014	L	0.52364	1.645	0.51233	D	0.999917	D;D;D;D;D	0.89917	1.0;0.999;0.996;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.994;0.987;0.998;0.994	T	0.44452	-0.9327	10	0.07482	T	0.82	.	18.8323	0.92145	0.0:0.0:1.0:0.0	.	374;365;328;366;366	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	S	366;366;328;324	ENSP00000380781:A366S;ENSP00000351354:A324S	ENSP00000264825:A328S	A	+	1	0	NFIX	13053511	1.000000	0.71417	0.448000	0.26945	0.969000	0.65631	4.895000	0.63214	2.755000	0.94549	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	1	0	0	40	212	0	37	1	1	33	188	0	37	2		0	0	0	0	0	2	1	1	40	208	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NACC1	112939	broad.mit.edu	37	19	13246051	13246051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246051G>A	ENST00000292431.4	+	2	156	c.30G>A	c.(28-30)ccG>ccA	p.P10P	AC005546.2_ENST00000591837.1_lincRNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing			9					TGGAGATCCCGAACTTCGGCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000292431.4	1	1	hg19	CCDS12294.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	1	0	1	40	188	0	50	1	9.999154e-01	17	53	0	50	2		0	0	0	0	0	2	1	1	40	188	0	49	2								-3.411194	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACC1	112939	broad.mit.edu	37	19	13246249	13246249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246249G>T	ENST00000292431.4	+	2	354	c.228G>T	c.(226-228)caG>caT	p.Q76H		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing			9					TGCAGCCCCAGTCTTTCCAGC	0.647000																								0							SO:0001583	missense			ENST00000292431.4	1	1	hg19	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919900	0.52653	.	.	ENSG00000160877	ENST00000292431	T	0.67698	-0.28	5.05	4.01	0.46588	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	L	0.31207	0.915	0.42308	D	0.992207	D	0.76494	0.999	D	0.70716	0.97	T	0.70887	-0.4750	10	0.51188	T	0.08	.	11.2422	0.48977	0.0898:0.0:0.9102:0.0	.	76	Q96RE7	NACC1_HUMAN	H	76	ENSP00000292431:Q76H	ENSP00000292431:Q76H	Q	+	3	2	NACC1	13107249	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	1.681000	0.37618	1.129000	0.42072	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	1	0	1	73	274	0	49	1	1	35	80	0	49	2		0	0	0	0	0	2	1	1	72	268	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACC1	112939	broad.mit.edu	37	19	13246954	13246954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246954C>T	ENST00000292431.4	+	2	1059	c.933C>T	c.(931-933)aaC>aaT	p.N311N		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing			9					GCATGATGAACGTCGGCCAGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000292431.4	1	1	hg19	CCDS12294.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	1	0	1	38	194	0	39	1	9.999996e-01	35	85	0	39	2		0	0	0	0	0	2	1	1	37	192	0	39	2								-20.000000	1	1	121408	2	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
STX10	8677	broad.mit.edu	37	19	13256126	13256126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13256126G>A	ENST00000587230.1	-	5	511	c.447C>T	c.(445-447)atC>atT	p.I149I	STX10_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000589083.1_Silent_p.I149I|STX10_ENST00000242770.5_Silent_p.I149I	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10			6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		GCTGCTCCTCGATGTAGCGAG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000587230.1	1	1	hg19	CCDS32922.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	1	0	1	38	153	0	50	1	1	54	176	0	50	2		0	0	0	0	0	2	1	1	38	149	0	50	2								-3.535615	1	1	121406	1	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1A	773	broad.mit.edu	37	19	13325114	13325114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13325114G>T	ENST00000360228.5	-	40	5872	c.5873C>A	c.(5872-5874)gCc>gAc	p.A1958D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit			42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GATCATCATGGCTGCGTAGAT	0.642000																								0							SO:0001583	missense			ENST00000360228.5	1	1	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562411	0.65538	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.72394	-0.65	4.72	4.72	0.59763	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.000000	0.64402	D	0.000001	D	0.83211	0.5205	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	D	0.85729	0.1330	10	0.87932	D	0	.	16.4549	0.84009	0.0:0.0:1.0:0.0	.	1959;1964;1958;1959	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	D	1958;1964;1959;1959	ENSP00000353362:A1958D	ENSP00000317661:A1959D	A	-	2	0	CACNA1A	13186114	1.000000	0.71417	0.989000	0.46669	0.868000	0.49771	9.353000	0.97080	2.184000	0.69523	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1	18	116	0	28	0	4.621271e-01	0	11	0	28	2		0	0	0	0	0	2	1	9.999846e-01	17	113	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997730	0.990000	1	9.900000e-01	1
CACNA1A	773	broad.mit.edu	37	19	13345818	13345818	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13345818G>A	ENST00000360228.5	-	34	5165	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	CACNA1A_ENST00000573710.2_Silent_p.D1723D|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit			42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CACTGTCCTCGTCCTCCACGT	0.542000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000360228.5	1	1	hg19	CCDS45998.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1	124	514	0	127	0	1.741308e-01	0	4	0	127	2		0	0	0	0	0	2	1	1	121	504	1	126	17								-20.000000	1	1	121018	3	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1A	773	broad.mit.edu	37	19	13356068	13356068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13356068G>A	ENST00000360228.5	-	31	4877	c.4878C>T	c.(4876-4878)cgC>cgT	p.R1626R	CACNA1A_ENST00000573710.2_Silent_p.R1627R|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit			42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAGGCATCGCGGAAATAAT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000360228.5	1	1	hg19	CCDS45998.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1	39	236	0	61	0	5.747911e-02	0	3	0	61	2		0	0	0	0	0	2	1	1	39	228	0	61	2								-20.000000	1	1	120880	2	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
CACNA1A	773	broad.mit.edu	37	19	13370400	13370400	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13370400A>G	ENST00000360228.5	-	27	4365	c.4366T>C	c.(4366-4368)Tcc>Ccc	p.S1456P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit			42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCCCGTGGACACGGTGAAG	0.552000																								0							SO:0001583	missense			ENST00000360228.5	1	1	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510055	0.64522	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98531	-4.98	4.88	4.88	0.63580	Ion transport (1);	0.137604	0.49916	D	0.000130	D	0.99102	0.9691	M	0.92604	3.325	0.58432	D	0.999997	P;P;D	0.89917	0.883;0.928;1.0	P;P;D	0.91635	0.747;0.703;0.999	D	0.99414	1.0931	10	0.72032	D	0.01	.	13.5025	0.61465	1.0:0.0:0.0:0.0	.	1457;1460;1456	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	P	1456;1460;1457;1457;73	ENSP00000353362:S1456P	ENSP00000317661:S1457P	S	-	1	0	CACNA1A	13231400	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.337000	0.96545	1.838000	0.53458	0.459000	0.35465	TCC		TCGA-IB-7651-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	0	15	50	0	14	0	4.359368e-01	0	6	0	14	2		0	0	0	0	0	2	1	9.998974e-01	14	47	0	14	2								-13.129950	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999929	0.990000	1	9.900000e-01	1
CACNA1A	773	broad.mit.edu	37	19	13410018	13410018	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13410018T>C	ENST00000360228.5	-	19	2428	c.2429A>G	c.(2428-2430)cAc>cGc	p.H810R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit			42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCCGCAGGTGCCGCGTGTA	0.647000																								0							SO:0001583	missense			ENST00000360228.5	1	1	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	3.288	-0.145636	0.06627	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	3.86	1.48	0.22813	.	3.771970	0.00960	N	0.003099	D	0.90621	0.7059	N	0.25485	0.75	0.22354	N	0.99917	B;P;P	0.38335	0.012;0.467;0.627	B;B;B	0.32022	0.007;0.132;0.139	T	0.82343	-0.0504	10	0.22706	T	0.39	.	9.1483	0.36946	0.0:0.0:0.4829:0.5171	.	811;814;810	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	R	810;814;811;811	ENSP00000353362:H810R	ENSP00000317661:H811R	H	-	2	0	CACNA1A	13271018	0.042000	0.20092	0.850000	0.33497	0.067000	0.16453	0.422000	0.21296	0.052000	0.16007	0.374000	0.22700	CAC		TCGA-IB-7651-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1	60	316	0	49	0	2.639918e-02	0	2	0	49	2		0	0	0	0	0	2	1	1	60	307	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1A	773	broad.mit.edu	37	19	13419063	13419063	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13419063T>C	ENST00000360228.5	-	14	1783	c.1784A>G	c.(1783-1785)tAc>tGc	p.Y595C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit			42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATGCCCAGTACCTGCCGAC	0.582000																								0							SO:0001583	missense			ENST00000360228.5	1	1	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221312	0.58560	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98531	-4.98	5.12	5.12	0.69794	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99121	0.9697	M	0.92555	3.32	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.99402	1.0928	10	0.87932	D	0	.	13.9098	0.63860	0.0:0.0:0.0:1.0	.	596;596;595	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	595;596;596;596	ENSP00000353362:Y595C	ENSP00000317661:Y596C	Y	-	2	0	CACNA1A	13280063	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	1.923000	0.55706	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1	23	110	0	28	0	2.911076e-01	0	6	0	28	2		0	0	0	0	0	2	1	9.999996e-01	23	107	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999950	0.990000	1	9.900000e-01	1
CACNA1A	773	broad.mit.edu	37	19	13428040	13428040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13428040G>A	ENST00000360228.5	-	11	1440	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	p.R482C(3)		42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGACCATGCGGCGGATGTAG	0.512000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000360228.5	1	1	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347420	0.41599	0.0	1.2E-4	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96365	-3.99	5.76	4.73	0.59995	.	0.218239	0.39274	N	0.001415	D	0.98277	0.9429	M	0.89785	3.06	0.47949	D	0.999551	B;D;B	0.89917	0.246;1.0;0.246	B;D;B	0.85130	0.008;0.997;0.008	D	0.99066	1.0832	10	0.72032	D	0.01	.	13.7078	0.62651	0.0752:0.0:0.9248:0.0	.	482;482;481	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	481;482;482;482	ENSP00000353362:R481C	ENSP00000317661:R482C	R	-	1	0	CACNA1A	13289040	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.782000	0.68973	1.437000	0.47472	-0.136000	0.14681	CGC		TCGA-IB-7651-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1	21	93	0	28	0	3.728264e-02	0	2	0	28	2		0	0	0	0	0	2	1	9.999986e-01	21	91	0	26	2								-14.466570	1	1	120878	3	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
CCDC130	81576	broad.mit.edu	37	19	13869941	13869941	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13869941C>T	ENST00000586600.1	+	9	931	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M			P13994	CC130_HUMAN	coiled-coil domain containing 130			10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		AAGCTGGAGACGGACGCCATG	0.662000																								0							SO:0001583	missense			ENST00000586600.1	1	1	hg19	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163654	0.57476	.	.	ENSG00000104957	ENST00000221554	T	0.30714	1.52	5.27	3.15	0.36227	.	0.144833	0.64402	N	0.000009	T	0.24774	0.0601	L	0.48174	1.505	0.80722	D	1	P;P	0.39003	0.502;0.654	B;B	0.35770	0.21;0.21	T	0.02603	-1.1135	10	0.46703	T	0.11	-11.8772	9.6341	0.39798	0.0:0.8283:0.0:0.1717	.	143;143	B3KUZ1;P13994	.;CC130_HUMAN	M	143	ENSP00000221554:T143M	ENSP00000221554:T143M	T	+	2	0	CCDC130	13730941	0.999000	0.42202	0.609000	0.28983	0.993000	0.82548	4.152000	0.58111	0.625000	0.30304	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	1	0	1	25	138	0	28	1	9.924954e-01	13	33	0	28	2		0	0	0	0	0	2	1	9.999999e-01	25	135	0	28	2								-20.000000	1	1	121392	2	25	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999865	0.990000	1	9.900000e-01	1
NDUFS7	374291	broad.mit.edu	37	19	1391124	1391124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1391124G>A	ENST00000233627.9	+	6	711	c.415G>A	c.(415-417)Gac>Aac	p.D139N	NDUFS7_ENST00000546283.1_Missense_Mutation_p.D139N|AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000313408.7_Missense_Mutation_p.D139N|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N|NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000540530.1_3'UTR|AC005329.7_ENST00000501448.1_RNA	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)			1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		Doxorubicin(DB00997)	CCAGGTCTACGACCAGATGCC	0.692000																								0							SO:0001583	missense			ENST00000233627.9	1	1	hg19	CCDS12063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.316424|2.316424	0.40996|0.40996	.|.	.|.	ENSG00000115286|ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382|ENST00000450862	T;T;T;T;T|.	0.78481|.	-1.18;-0.99;-1.18;-1.18;-1.18|.	4.44|4.44	4.44|4.44	0.53790|0.53790	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);|.	.|.	.|.	.|.	.|.	T|T	0.66396|0.66396	0.2785|0.2785	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.988;0.994;0.998;0.991|.	T|T	0.65092|0.65092	-0.6252|-0.6252	9|6	0.87932|0.02654	D|T	0|1	.|.	10.4224|10.4224	0.44359|0.44359	0.0977:0.0:0.9023:0.0|0.0977:0.0:0.9023:0.0	.|.	139;146;139;139|.	F5H5N1;Q8NAS7;B3KRI2;O75251|.	.;.;.;NDUS7_HUMAN|.	N|Q	139;139;139;139;169;58;58;58;58|140	ENSP00000440348:D139N;ENSP00000233627:D139N;ENSP00000443273:D139N;ENSP00000364262:D139N;ENSP00000406630:D169N|.	ENSP00000233627:D139N|ENSP00000388398:R140Q	D|R	+|+	1|2	0|0	NDUFS7|NDUFS7	1342124|1342124	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.176000|0.176000	0.22953|0.22953	7.182000|7.182000	0.77689|0.77689	2.016000|2.016000	0.59253|0.59253	0.511000|0.511000	0.50034|0.50034	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	1	0	1	33	104	0	24	1	1	90	260	0	24	2		0	0	0	0	0	2	1	1	32	96	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSWIM4	65249	broad.mit.edu	37	19	13936465	13936465	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13936465A>G	ENST00000254323.2	+	11	2155	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4			27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		CAAGACAGCCACCCCGGTCAG	0.667000																								0							SO:0001583	missense			ENST00000254323.2	1	1	hg19	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670200	0.47677	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.48522	0.81;0.81	4.23	3.05	0.35203	.	0.000000	0.52532	D	0.000074	T	0.47469	0.1447	M	0.71206	2.165	0.39259	D	0.964173	B;B	0.30563	0.015;0.285	B;B	0.36186	0.016;0.219	T	0.48151	-0.9060	10	0.56958	D	0.05	-21.304	7.6829	0.28524	0.8831:0.0:0.1169:0.0	.	490;656	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	656;490	ENSP00000254323:T656A;ENSP00000405278:T490A	ENSP00000254323:T656A	T	+	1	0	ZSWIM4	13797465	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.719000	0.68462	0.520000	0.28426	0.482000	0.46254	ACC		TCGA-IB-7651-01A-11D-2154-08	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	1	0	1	92	361	0	67	1	9.956247e-01	11	24	0	67	2		0	0	0	0	0	2	1	1	90	356	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSWIM4	65249	broad.mit.edu	37	19	13941765	13941765	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13941765C>T	ENST00000254323.2	+	13	3060	c.2871C>T	c.(2869-2871)ccC>ccT	p.P957P	ZSWIM4_ENST00000440752.2_Silent_p.P791P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4			27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		TGCTGGCGCCCGACGGGCACC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000254323.2	0	1	hg19	CCDS32924.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	0	0	0	9	449	0	74	0	6.026221e-02	0	18	0	74	2	0	0	0	1	0	0	2	1	9.937758e-01	10	439	0	74	2								-2.945055	1	1	121408	2	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.250000	0.110000	1.000000	0.230000	0.315560	0.250000	0	1.700000e-01	3.700000e-01
NANOS3	342977	broad.mit.edu	37	19	13988311	13988311	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13988311C>T	ENST00000397555.2	+	2	192	c.192C>T	c.(190-192)aaC>aaT	p.N64N	MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000339133.5_Silent_p.N83N|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)			7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)		GCAAACACAACGGCGAGTCCC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000397555.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	52	273	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	51	270	0	70	2								-20.000000	1	1	121312	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C19orf57	79173	broad.mit.edu	37	19	14000527	14000527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14000527C>A	ENST00000586783.1	-	5	1141	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	C19orf57_ENST00000346736.2_Missense_Mutation_p.R381M|C19orf57_ENST00000454313.1_Missense_Mutation_p.R381M|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57			14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)		CAAGGCCCTCCTGTGGCCTCC	0.667000																								0							SO:0001583	missense			ENST00000586783.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	8.876	0.950379	0.18431	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.40476	1.03;1.03	3.06	-2.43	0.06522	.	0.700857	0.12983	N	0.423072	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	P;P	0.42871	0.792;0.564	B;B	0.38020	0.263;0.192	T	0.12400	-1.0549	10	0.46703	T	0.11	-0.0386	1.6074	0.02687	0.3606:0.3463:0.177:0.1161	.	381;381	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	M	381	ENSP00000404382:R381M;ENSP00000254336:R381M	ENSP00000254336:R381M	R	-	2	0	C19orf57	13861527	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.204000	0.17335	-0.321000	0.08627	-0.140000	0.14226	AGG		TCGA-IB-7651-01A-11D-2154-08	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	1	0	1	39	210	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	1	38	205	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
DCAF15	90379	broad.mit.edu	37	19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G	PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15			11					GCTTGCCAGGATGCCAGCCGA	0.667000																								0							SO:0001583	missense			ENST00000254337.6	1	1	hg19	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.730928	0.48939	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.58	4.58	0.56647	.	0.370632	0.25065	N	0.033412	T	0.32041	0.0816	L	0.36672	1.1	0.26519	N	0.974469	B	0.30361	0.277	B	0.23419	0.046	T	0.19353	-1.0308	9	0.37606	T	0.19	-4.1699	13.2115	0.59828	1.0:0.0:0.0:0.0	.	198	Q66K64	DCA15_HUMAN	G	198	.	ENSP00000254337:D198G	D	+	2	0	DCAF15	13928054	0.997000	0.39634	0.965000	0.40720	0.960000	0.62799	3.933000	0.56545	1.826000	0.53198	0.448000	0.29417	GAT		TCGA-IB-7651-01A-11D-2154-08	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	1	0	1	41	188	0	39	1	9.999622e-01	19	55	0	39	2		0	0	0	0	0	2	1	1	40	186	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF15	90379	broad.mit.edu	37	19	14069989	14069989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14069989G>A	ENST00000254337.6	+	7	938	c.917G>A	c.(916-918)cGt>cAt	p.R306H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15			11					GCCCCAGCCCGTTCTTCTGGG	0.701000																								0							SO:0001583	missense			ENST00000254337.6	1	1	hg19	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	5.964	0.361856	0.11296	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.65	2.51	0.30379	.	1.602430	0.03963	U	0.290281	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999998	B	0.33964	0.434	B	0.29440	0.102	T	0.20075	-1.0286	9	0.30854	T	0.27	-3.0763	6.1558	0.20335	0.3277:0.0:0.6723:0.0	.	306	Q66K64	DCA15_HUMAN	H	306	.	ENSP00000254337:R306H	R	+	2	0	DCAF15	13930989	0.000000	0.05858	0.345000	0.25642	0.023000	0.10783	-0.092000	0.11129	0.380000	0.24823	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	1	0	0	84	423	0	72	1	9.671684e-01	7	23	0	72	2		0	0	0	0	0	2	1	1	82	413	0	71	2								-3.330635	1	1	121372	60	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF15	90379	broad.mit.edu	37	19	14071137	14071137	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14071137A>G	ENST00000254337.6	+	11	1586	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15			11					GTGGCATGGGACCTCAACACA	0.617000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000254337.6	1	1	hg19	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.428411	0.83667	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.16	4.16	0.48862	.	0.066152	0.56097	D	0.000025	T	0.63674	0.2531	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.67573	-0.5636	9	0.87932	D	0	-26.636	12.4814	0.55844	1.0:0.0:0.0:0.0	.	522	Q66K64	DCA15_HUMAN	G	522	.	ENSP00000254337:D522G	D	+	2	0	DCAF15	13932137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	1.666000	0.50821	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	1	0	1	86	403	0	111	1	1	21	103	0	111	2		0	0	0	0	0	2	1	1	85	399	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFX1	5989	broad.mit.edu	37	19	14080831	14080831	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080831G>T	ENST00000254325.4	-	10	1705	c.1471C>A	c.(1471-1473)Ctg>Atg	p.L491M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)			21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		CGGGTTCGCAGGCCCATGAAG	0.647000																								0							SO:0001583	missense			ENST00000254325.4	1	1	hg19	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922568	0.73213	.	.	ENSG00000132005	ENST00000254325	D	0.85556	-2.0	4.89	3.79	0.43588	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.91998	0.7465	M	0.85859	2.78	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.92113	0.5697	10	0.87932	D	0	-21.6286	10.9679	0.47422	0.1032:0.0:0.8968:0.0	.	491	P22670	RFX1_HUMAN	M	491	ENSP00000254325:L491M	ENSP00000254325:L491M	L	-	1	2	RFX1	13941831	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.068000	0.57534	0.929000	0.37192	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	1	0	1	48	233	0	63	1	9.893375e-01	13	24	0	63	2		0	0	0	0	0	2	1	1	47	227	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFX1	5989	broad.mit.edu	37	19	14080949	14080949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080949G>A	ENST00000254325.4	-	10	1587	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	p.G451G(1)		21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		GCAGACTCACGCCCTCAGCCG	0.622000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000254325.4	1	1	hg19	CCDS12301.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	1	0	1	69	329	0	79	1	9.514106e-01	3	23	0	79	2		0	0	0	0	0	2	1	1	68	326	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASF1B	55723	broad.mit.edu	37	19	14231410	14231410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14231410A>G	ENST00000263382.3	-	4	969	c.470T>C	c.(469-471)aTg>aCg	p.M157T	CTB-55O6.10_ENST00000590715.1_RNA|PRKACA_ENST00000590853.1_5'Flank|PRKACA_ENST00000308677.4_5'Flank|ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone			7					CAGCCTGTCCATGTTGTTGTC	0.617000																								0							SO:0001583	missense			ENST00000263382.3	1	1	hg19	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	a	0.383	-0.927845	0.02377	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.8	-3.06	0.05379	.	1.694630	0.02767	N	0.119296	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	9	0.06757	T	0.87	.	4.5182	0.11947	0.4499:0.0:0.3051:0.245	.	157	Q9NVP2	ASF1B_HUMAN	T	157	.	ENSP00000263382:M157T	M	-	2	0	ASF1B	14092410	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	0.439000	0.21575	-0.706000	0.05028	-0.783000	0.03347	ATG		TCGA-IB-7651-01A-11D-2154-08	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	1	0	1	37	218	0	51	1	9.950107e-01	16	35	0	51	2		0	0	0	0	0	2	1	1	37	214	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
LPHN1	22859	broad.mit.edu	37	19	14266186	14266186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14266186G>A	ENST00000340736.6	-	19	3591	c.3294C>T	c.(3292-3294)tgC>tgT	p.C1098C	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1			32					TCTGTAAGGCGCAGTGAAAGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000340736.6	1	1	hg19	CCDS32928.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	1	0	0	153	683	1	159	1	9.964394e-01	21	29	1	159	3		0	0	0	0	0	2	1	1	151	668	1	158	18								-20.000000	1	1	121412	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPHN1	22859	broad.mit.edu	37	19	14267880	14267880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14267880C>T	ENST00000340736.6	-	16	3135	c.2838G>A	c.(2836-2838)gtG>gtA	p.V946V	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1			32					GGTAGAGGTGCACGCCCTCCA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000340736.6	1	1	hg19	CCDS32928.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	1	0	1	44	182	0	41	1	9.998451e-01	19	39	0	41	2		0	0	0	0	0	2	1	1	42	180	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPHN1	22859	broad.mit.edu	37	19	14273951	14273951	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14273951T>G	ENST00000340736.6	-	6	974	c.677A>C	c.(676-678)aAc>aCc	p.N226T	LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1			32					GCGCTCCTTGTTGTAGAAGAC	0.612000																								0							SO:0001583	missense			ENST00000340736.6	1	1	hg19	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379385	0.82682	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.88586	-2.4;-2.4	4.95	4.95	0.65309	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.67700	2.07	0.54753	D	0.999988	P;D	0.55605	0.931;0.972	P;P	0.58266	0.747;0.836	D	0.92216	0.5780	10	0.56958	D	0.05	.	12.5834	0.56403	0.0:0.0:0.0:1.0	.	221;226	O94910-2;O94910	.;LPHN1_HUMAN	T	226;221	ENSP00000340688:N226T;ENSP00000355328:N221T	ENSP00000340688:N226T	N	-	2	0	LPHN1	14134951	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.969000	0.87988	1.846000	0.53633	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	1	0	1	77	312	0	64	1	8.947719e-01	7	11	0	64	2		0	0	0	0	0	2	1	1	77	305	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD97	976	broad.mit.edu	37	19	14501839	14501839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14501839G>A	ENST00000242786.5	+	4	374	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000358600.3_Silent_p.E98E	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule			30					CGGGATATGAGCCTGTTTCTG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000242786.5	1	1	hg19	CCDS32929.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	0	0	0	57	367	0	115	1	1	146	361	0	115	2		0	0	0	0	0	2	1	1	54	356	0	115	2								-19.999970	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
CD97	976	broad.mit.edu	37	19	14517707	14517707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517707C>T	ENST00000242786.5	+	17	2222	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	CD97_ENST00000357355.3_Silent_p.T665T|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Silent_p.T621T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule			30					TCGTGACTACCGTCTGGAAGC	0.562000											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000242786.5	1	1	hg19	CCDS32929.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	0	0	0	56	1739	1	348	1	9.126081e-01	9	258	1	348	5		0	0	0	0	0	2	1	9.999979e-01	54	1705	1	344	18								-2.004706	0	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.370000	0.280000	1.000000	0.370000	0.425904	0.370000	0	3.200000e-01	4.400000e-01
CD97	976	broad.mit.edu	37	19	14517876	14517876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517876G>A	ENST00000242786.5	+	18	2291	c.2211G>A	c.(2209-2211)gcG>gcA	p.A737A	CD97_ENST00000357355.3_Silent_p.A688A|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Silent_p.A644A	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule			30					CTCGCAGGGCGCTGACCATCA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000242786.5	1	1	hg19	CCDS32929.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	1	0	0	34	412	0	78	1	1	59	339	0	78	2		0	0	0	0	0	2	1	1	34	407	0	76	2								-20.000000	1	1	121406	1	26	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.920000	0.640000	1.000000	1.000000	0.898088	0.920000	1	7.700000e-01	1
PKN1	5585	broad.mit.edu	37	19	14554324	14554324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14554324C>T	ENST00000242783.6	+	3	530	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Missense_Mutation_p.A128V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1			31					ACCTGCTCGGCCACCAACCTG	0.662000													NSCLC(185;2539 2965 10733 52867)											0							SO:0001583	missense			ENST00000242783.6	1	1	hg19	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563159	0.45694	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65549	-0.16;-0.16	4.01	4.01	0.46588	.	0.197201	0.34411	U	0.003983	T	0.42291	0.1196	N	0.22421	0.69	0.31609	N	0.651697	B;B	0.25609	0.13;0.079	B;B	0.16289	0.015;0.007	T	0.44726	-0.9309	10	0.22706	T	0.39	-0.0488	9.1301	0.36839	0.2185:0.7815:0.0:0.0	.	128;122	Q16512-2;Q16512	.;PKN1_HUMAN	V	122;128	ENSP00000242783:A122V;ENSP00000343325:A128V	ENSP00000242783:A122V	A	+	2	0	PKN1	14415324	0.765000	0.28485	1.000000	0.80357	0.933000	0.57130	1.622000	0.36997	1.794000	0.52575	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	1	0	1	16	71	0	18	1	9.999999e-01	30	131	0	18	2		0	0	0	0	0	2	1	9.999544e-01	16	69	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999756	0.990000	1	9.900000e-01	1
PKN1	5585	broad.mit.edu	37	19	14568859	14568859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14568859G>A	ENST00000242783.6	+	8	1347	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	CTC-548K16.6_ENST00000589702.1_RNA|PKN1_ENST00000342216.4_Silent_p.V400V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1			31					TCAGCACTGTGCTTAAGCTGG	0.552000													NSCLC(185;2539 2965 10733 52867)											0							SO:0001819	synonymous_variant			ENST00000242783.6	1	1	hg19	CCDS42513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	1	0	1	209	902	0	204	1	1	76	400	0	204	2		0	0	0	0	0	2	1	1	201	878	0	201	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKN1	5585	broad.mit.edu	37	19	14578761	14578761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14578761C>T	ENST00000242783.6	+	15	2123	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1			31					GACATTGTGGCCCGAGACGAG	0.587000													NSCLC(185;2539 2965 10733 52867)											0							SO:0001583	missense			ENST00000242783.6	1	1	hg19	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361481	0.82353	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65732	-0.17;-0.17	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000007	T	0.61211	0.2329	N	0.11023	0.085	0.40078	D	0.976102	D;D	0.59767	0.982;0.986	P;D	0.64144	0.873;0.922	T	0.69818	-0.5042	10	0.72032	D	0.01	-7.1948	15.3299	0.74200	0.0:1.0:0.0:0.0	.	659;653	Q16512-2;Q16512	.;PKN1_HUMAN	V	653;659	ENSP00000242783:A653V;ENSP00000343325:A659V	ENSP00000242783:A653V	A	+	2	0	PKN1	14439761	0.994000	0.37717	1.000000	0.80357	0.964000	0.63967	3.566000	0.53805	2.555000	0.86185	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	1	0	1	66	197	0	53	1	1	122	399	0	53	2		0	0	0	0	0	2	1	1	65	193	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIPC1	10755	broad.mit.edu	37	19	14593528	14593528	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14593528G>A	ENST00000393033.4	-	4	530	c.261C>T	c.(259-261)gcC>gcT	p.A87A	GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000345425.2_Silent_p.A87A|GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000393029.3_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1			6					GGAAGGCCTCGGCGATCTTGC	0.652000													Pancreas(33;78 923 2910 41023 52850)											0							SO:0001819	synonymous_variant			ENST00000393033.4	1	1	hg19	CCDS12310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2	1	0	1	30	116	0	26	1	1	93	180	0	26	2		0	0	0	0	0	2	1	1	30	116	0	26	2								-20.000000	1	1	121336	5	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DNAJB1	3337	broad.mit.edu	37	19	14626848	14626848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14626848C>A	ENST00000254322.2	-	3	997	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1			16					CCCCACGTTTCTCGGGTGTTT	0.507000																								0							SO:0001583	missense			ENST00000254322.2	1	1	hg19	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.523743	0.27299	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.42131	0.98;0.98	4.84	2.64	0.31445	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.304487	0.35067	N	0.003465	T	0.21267	0.0512	N	0.12611	0.24	0.38586	D	0.950306	B	0.02656	0.0	B	0.01281	0.0	T	0.07271	-1.0781	10	0.20046	T	0.44	.	8.377	0.32449	0.1664:0.5109:0.3227:0.0	.	309	P25685	DNJB1_HUMAN	D	309;209	ENSP00000254322:E309D;ENSP00000444212:E209D	ENSP00000254322:E309D	E	-	3	2	DNAJB1	14487848	0.842000	0.29525	0.974000	0.42286	0.969000	0.65631	-0.088000	0.11198	0.441000	0.26529	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	0	0	1	95	404	1	110	1	1	369	687	1	110	29		0	0	0	0	0	2	1	1	91	390	1	109	16								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APC2	10297	broad.mit.edu	37	19	1465269	1465269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1465269G>A	ENST00000535453.1	+	14	3682	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.A657T|APC2_ENST00000238483.4_Missense_Mutation_p.A383T|CTB-25B13.12_ENST00000588225.1_RNA			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2			18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			GGCCCGCAGCGCCCGTGACCA	0.652000																								0							SO:0001583	missense			ENST00000535453.1	0	1	hg19	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528135	0.27299	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.65549	-0.16;0.83;-0.16	4.65	-2.29	0.06805	Armadillo-like helical (1);Armadillo-type fold (1);	0.405928	0.26262	N	0.025385	T	0.43567	0.1253	L	0.27053	0.805	0.80722	D	1	P;P	0.43231	0.801;0.7	B;B	0.31016	0.123;0.058	T	0.48958	-0.8988	10	0.45353	T	0.12	-12.6912	20.324	0.98686	0.0:0.2256:0.7744:0.0	.	656;657	O95996-3;O95996	.;APC2_HUMAN	T	657;383;657	ENSP00000233607:A657T;ENSP00000238483:A383T;ENSP00000442954:A657T	ENSP00000233607:A657T	A	+	1	0	APC2	1416269	0.070000	0.21116	0.532000	0.27989	0.255000	0.26057	-0.266000	0.08631	-0.246000	0.09611	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	1	22	120	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999993e-01	22	119	0	16	2								-20.000000	1	1	120524	1	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999765	0.990000	1	9.900000e-01	1
APC2	10297	broad.mit.edu	37	19	1466480	1466480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466480G>A	ENST00000535453.1	+	14	4893	c.3180G>A	c.(3178-3180)gcG>gcA	p.A1060A	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.A1060A|APC2_ENST00000238483.4_Silent_p.A786A			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2			18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			AACTGGCGGCGCAAGAGGGGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000535453.1	1	1	hg19	CCDS12068.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	0	20	101	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999970e-01	19	100	0	17	2								-20.000000	1	1	119088	5	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999809	0.990000	1	9.900000e-01	1
APC2	10297	broad.mit.edu	37	19	1466897	1466897	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466897C>T	ENST00000535453.1	+	14	5310	c.3597C>T	c.(3595-3597)ccC>ccT	p.P1199P	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.P1199P|APC2_ENST00000238483.4_Silent_p.P925P			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2			18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			GCGAGCTGCCCGACAGCCCCG	0.711000																								0							SO:0001819	synonymous_variant			ENST00000535453.1	0	1	hg19	CCDS12068.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	0	11	48	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.988767e-01	11	48	0	9	2								-19.961080	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998704	0.990000	1	9.900000e-01	1
TECR	9524	broad.mit.edu	37	19	14676616	14676616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676616G>A	ENST00000215567.5	+	13	997	c.860G>A	c.(859-861)cGc>cAc	p.R287H	TECR_ENST00000600083.1_Missense_Mutation_p.R132H|TECR_ENST00000436007.2_Missense_Mutation_p.R302H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase			3					GGCAAGCACCGCAGCTACCTG	0.662000																								0							SO:0001583	missense			ENST00000215567.5	0	1	hg19	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180606	0.57800	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.30981	1.51;1.51	4.67	4.67	0.58626	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.82323	2.585	0.80722	D	1	B;B;B	0.27140	0.058;0.169;0.058	B;B;B	0.19946	0.027;0.027;0.027	T	0.43877	-0.9364	10	0.62326	D	0.03	-19.4336	15.0436	0.71811	0.0:0.0:1.0:0.0	.	287;302;287	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	H	287;302	ENSP00000215567:R287H;ENSP00000397206:R302H	ENSP00000215567:R287H	R	+	2	0	TECR	14537616	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.225000	0.78051	2.158000	0.67659	0.289000	0.19496	CGC		TCGA-IB-7651-01A-11D-2154-08	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	1	0	0	16	73	0	19	1	1	65	191	0	19	2		0	0	0	0	0	2	1	9.999495e-01	15	71	0	24	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999708	0.990000	1	9.900000e-01	1
TECR	9524	broad.mit.edu	37	19	14676647	14676647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676647G>A	ENST00000215567.5	+	13	1028	c.891G>A	c.(889-891)ccG>ccA	p.P297P	TECR_ENST00000600083.1_Silent_p.P142P|TECR_ENST00000436007.2_Silent_p.P312P|TECR_ENST00000596073.1_Silent_p.P142P	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase			3					GGGACTACCCGCCCCTGCGCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000215567.5	0	1	hg19	CCDS12313.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	0	0	0	7	81	0	20	1	9.999218e-01	26	242	0	20	2		0	0	0	0	0	2	1	9.778594e-01	7	76	0	31	2								-12.568110	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.450000	1.000000	1.000000	0.878534	0.990000	1	6.800000e-01	1
APC2	10297	broad.mit.edu	37	19	1467872	1467872	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467872G>A	ENST00000535453.1	+	14	6285	c.4572G>A	c.(4570-4572)acG>acA	p.T1524T	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.T1524T|APC2_ENST00000238483.4_Silent_p.T1250T			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2			18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			CCGCGCCCACGCCAACCCACC	0.721000																								0							SO:0001819	synonymous_variant			ENST00000535453.1	1	1	hg19	CCDS12068.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	0	20	81	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999979e-01	20	81	0	11	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
APC2	10297	broad.mit.edu	37	19	1467886	1467886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467886G>A	ENST00000535453.1	+	14	6299	c.4586G>A	c.(4585-4587)cGc>cAc	p.R1529H	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H|APC2_ENST00000238483.4_Missense_Mutation_p.R1255H			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2			18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			ACCCACCGGCGCACATCGGCC	0.736000																								0							SO:0001583	missense			ENST00000535453.1	0	1	hg19	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430216	0.43122	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92699	-3.09;-2.74;-3.09	3.32	0.576	0.17380	.	2.002530	0.02410	N	0.081577	D	0.87977	0.6314	L	0.44542	1.39	0.19575	N	0.999969	B;B	0.19935	0.04;0.024	B;B	0.08055	0.003;0.001	T	0.73874	-0.3845	10	0.62326	D	0.03	-13.3497	4.1126	0.10065	0.5113:0.0:0.4887:0.0	.	1528;1529	O95996-3;O95996	.;APC2_HUMAN	H	1529;1255;1529	ENSP00000233607:R1529H;ENSP00000238483:R1255H;ENSP00000442954:R1529H	ENSP00000233607:R1529H	R	+	2	0	APC2	1418886	0.001000	0.12720	0.047000	0.18901	0.003000	0.03518	0.861000	0.27885	0.521000	0.28445	-0.436000	0.05848	CGC		TCGA-IB-7651-01A-11D-2154-08	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	1	0	0	13	89	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.996541e-01	14	88	0	14	2								-19.971550	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.860000	1.000000	1.000000	0.992134	0.990000	1	9.900000e-01	1
EMR3	84658	broad.mit.edu	37	19	14743812	14743812	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14743812A>C	ENST00000253673.5	-	13	1664	c.1564T>G	c.(1564-1566)Ttg>Gtg	p.L522V	EMR3_ENST00000344373.4_Missense_Mutation_p.L470V|EMR3_ENST00000443157.2_Missense_Mutation_p.L396V|EMR3_ENST00000599900.1_Missense_Mutation_p.L307V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3			50					AAGATAAACAATACTAAATTC	0.403000																								0							SO:0001583	missense			ENST00000253673.5	1	1	hg19	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	A	9.250	1.040406	0.19669	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.53857	0.6;0.6;0.6	4.08	1.96	0.26148	GPCR, family 2-like (1);	.	.	.	.	T	0.36524	0.0970	L	0.31845	0.965	0.09310	N	1	B;P;B	0.44946	0.382;0.846;0.372	B;B;B	0.40782	0.133;0.328;0.34	T	0.30679	-0.9970	9	0.66056	D	0.02	.	2.1925	0.03903	0.5755:0.0:0.2003:0.2242	.	396;470;522	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	V	396;522;470	ENSP00000396208:L396V;ENSP00000253673:L522V;ENSP00000340758:L470V	ENSP00000253673:L522V	L	-	1	2	EMR3	14604812	0.119000	0.22226	0.020000	0.16555	0.005000	0.04900	0.344000	0.19962	0.692000	0.31613	0.533000	0.62120	TTG		TCGA-IB-7651-01A-11D-2154-08	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	1	0	1	36	144	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	36	139	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF333	84449	broad.mit.edu	37	19	14806443	14806443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14806443G>T	ENST00000292530.6	+	4	284	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333			21					AAAGGCAACAGAACGAGGGAT	0.572000													NSCLC(60;75 1281 16985 25154 29885)											0							SO:0001587	stop_gained			ENST00000292530.6	0	1	hg19	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891555	0.52014	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	.	.	.	2.47	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	5.2459	0.15496	0.1732:0.0:0.8268:0.0	.	.	.	.	X	65	.	ENSP00000292530:E65X	E	+	1	0	ZNF333	14667443	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.527000	0.22987	0.394000	0.25230	-0.350000	0.07774	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	1	0	1	33	167	0	42	0	7.352615e-01	0	15	0	42	2		0	0	0	0	0	2	1	1	33	164	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
PCSK4	54760	broad.mit.edu	37	19	1483417	1483417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1483417G>A	ENST00000300954.5	-	12	1498	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4			15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			GGAGGCCGGCGCAGGCCGATA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000300954.5	1	1	hg19	CCDS12069.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	0	0	0	81	272	1	49	1	3.273523e-01	5	0	1	49	2		0	0	0	0	0	2	1	1	80	261	0	46	2								-2.941338	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EMR2	30817	broad.mit.edu	37	19	14863237	14863237	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14863237G>T	ENST00000315576.3	-	15	2143	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	EMR2_ENST00000353005.1_Silent_p.I422I|EMR2_ENST00000594294.1_Silent_p.I515I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000596991.2_Silent_p.I553I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2			48					TGGTGTTCTGGATGGCTTTAC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000315576.3	1	1	hg19	CCDS32935.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2	1	0	1	51	324	0	68	0	9.847476e-01	0	44	0	68	2		0	0	0	0	0	2	1	1	50	311	0	68	2								-19.997870	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
PCSK4	54760	broad.mit.edu	37	19	1486949	1486949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1486949C>A	ENST00000300954.5	-	8	1032	c.971G>T	c.(970-972)aGc>aTc	p.S324I	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'Flank	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4			15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			CTGGGTGGTGCTGCCCACGGA	0.672000																								0							SO:0001583	missense			ENST00000300954.5	0	1	hg19	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522650	0.64747	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.83419	-1.72	2.71	2.71	0.32032	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.64402	U	0.000013	D	0.93539	0.7938	H	0.97315	3.98	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94710	0.7891	10	0.87932	D	0	.	12.2145	0.54398	0.0:1.0:0.0:0.0	.	324;136	Q6UW60;B3KQ28	PCSK4_HUMAN;.	I	324;136	ENSP00000300954:S324I	ENSP00000300954:S324I	S	-	2	0	PCSK4	1437949	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	4.703000	0.61824	1.221000	0.43506	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	0	0	0	88	365	1	61	1	6.615709e-01	4	7	1	61	2		0	0	0	0	0	2	1	1	86	364	1	60	23								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EMR2	30817	broad.mit.edu	37	19	14877892	14877892	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14877892G>T	ENST00000315576.3	-	6	836	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	EMR2_ENST00000353005.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2			48					CTTTTACAGAGCCTTGGGTTC	0.587000																								0							SO:0001583	missense			ENST00000315576.3	1	1	hg19	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	2.433	-0.330439	0.05314	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	3.72	-7.44	0.01379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78194	0.4245	N	0.11313	0.125	0.09310	N	1	B;B;B;B	0.15473	0.004;0.008;0.013;0.007	B;B;B;B	0.17098	0.005;0.007;0.017;0.006	T	0.64980	-0.6279	9	0.27785	T	0.31	.	5.1675	0.15094	0.0949:0.4357:0.3466:0.1228	.	129;129;129;129	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	I	129	ENSP00000319883:L129I;ENSP00000376694:L129I;ENSP00000263380:L129I;ENSP00000376692:L129I;ENSP00000376689:L129I	ENSP00000319883:L129I	L	-	1	0	EMR2	14738892	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.110000	0.00150	-2.490000	0.00517	-0.429000	0.05907	CTC		TCGA-IB-7651-01A-11D-2154-08	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2	0	0	0	21	575	0	144	0	2.338506e-01	0	25	0	144	2		0	0	0	0	0	2	1	9.999961e-01	18	552	0	142	2								-18.699550	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.430000	0.270000	1.000000	0.420000	0.478957	0.430000	0	3.400000e-01	5.600000e-01
PCSK4	54760	broad.mit.edu	37	19	1487861	1487861	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1487861C>A	ENST00000300954.5	-	5	578		c.e5-1		CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_Splice_Site	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4			15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			CCAGGGGGTCCTGGGGGCAGG	0.692000																								0							SO:0001630	splice_region_variant			ENST00000300954.5	1	1	hg19	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797892	0.50208	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7328	0.51748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK4	1438861	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.471000	0.80985	1.501000	0.48654	0.491000	0.48974	.		TCGA-IB-7651-01A-11D-2154-08	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	1	0	0	41	142	0	27	1	3.193221e-01	4	1	0	27	2		0	0	0	0	0	2	1	1	39	142	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK4	54760	broad.mit.edu	37	19	1488000	1488000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1488000C>A	ENST00000300954.5	-	4	540	c.479G>T	c.(478-480)gGc>gTc	p.G160V	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4			15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			CTTCTCGATGCCATCGTCCAG	0.677000																								0							SO:0001583	missense			ENST00000300954.5	1	1	hg19	CCDS12069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.198276|3.198276	0.58126|0.58126	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000441747|ENST00000300954	.|D	.|0.97710	.|-4.5	2.67|2.67	2.67|2.67	0.31697|0.31697	.|Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	.|0.000000	.|0.50627	.|D	.|0.000109	D|D	0.98998|0.98998	0.9658|0.9658	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	P|D	0.43750|0.89917	0.816|1.0	B|D	0.26864|0.97110	0.074|1.0	D|D	0.98703|0.98703	1.0701|1.0701	8|10	0.13853|0.87932	T|D	0.58|0	.|.	11.0356|11.0356	0.47799|0.47799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|160	B3KQ28|Q6UW60	.|PCSK4_HUMAN	S|V	2|160	.|ENSP00000300954:G160V	ENSP00000402772:A2S|ENSP00000300954:G160V	A|G	-|-	1|2	0|0	PCSK4|PCSK4	1439000|1439000	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.692000|0.692000	0.40212|0.40212	7.471000|7.471000	0.80985|0.80985	1.501000|1.501000	0.48654|0.48654	0.491000|0.491000	0.48974|0.48974	GCA|GGC		TCGA-IB-7651-01A-11D-2154-08	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	1	0	1	155	671	0	146	1	8.011385e-01	4	11	0	146	2		0	0	0	0	0	2	1	1	152	666	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC1A6	6511	broad.mit.edu	37	19	15063766	15063766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063766C>T	ENST00000221742.3	-	8	1480	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	SLC1A6_ENST00000430939.2_Silent_p.T427T|SLC1A6_ENST00000600144.1_Silent_p.T413T	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6			42					CAATGATGAGCGTGATGTCTT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000221742.3	1	1	hg19	CCDS12321.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	1	0	1	93	504	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	93	500	0	122	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC1A6	6511	broad.mit.edu	37	19	15065121	15065121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15065121G>A	ENST00000221742.3	-	7	1197	c.1190C>T	c.(1189-1191)aCc>aTc	p.T397I	SLC1A6_ENST00000430939.2_Missense_Mutation_p.T333I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6			42					GCAGCGGAAGGTGATGGGCAG	0.692000																								0							SO:0001583	missense			ENST00000221742.3	1	1	hg19	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.714401	0.89112	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.61742	0.37;0.08	4.52	4.52	0.55395	.	0.161650	0.53938	D	0.000041	T	0.77968	0.4210	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.82028	-0.0660	10	0.87932	D	0	-31.7608	15.1319	0.72530	0.0:0.0:1.0:0.0	.	333;397	E7EV13;P48664	.;EAA4_HUMAN	I	333;397	ENSP00000409386:T333I;ENSP00000221742:T397I	ENSP00000221742:T397I	T	-	2	0	SLC1A6	14926121	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.636000	0.83301	2.518000	0.84900	0.546000	0.68486	ACC		TCGA-IB-7651-01A-11D-2154-08	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	1	0	1	84	357	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	82	352	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYDE1	85360	broad.mit.edu	37	19	15221544	15221544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15221544C>T	ENST00000342784.2	+	4	1319	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	SYDE1_ENST00000600440.1_Missense_Mutation_p.R363W|SYDE1_ENST00000600252.1_Missense_Mutation_p.R87W	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)			17					CCGAGGGCTGCGGGTGAGCAC	0.687000																								0							SO:0001583	missense			ENST00000342784.2	0	1	hg19	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569073	0.45798	.	.	ENSG00000105137	ENST00000342784	T	0.20598	2.06	4.94	1.41	0.22369	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.098867	0.42821	D	0.000654	T	0.42108	0.1188	M	0.71871	2.18	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.29366	-1.0014	10	0.87932	D	0	.	11.9895	0.53168	0.4511:0.5489:0.0:0.0	.	363;363;430	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	W	430	ENSP00000341489:R430W	ENSP00000341489:R430W	R	+	1	2	SYDE1	15082544	0.992000	0.36948	0.990000	0.47175	0.087000	0.18053	1.567000	0.36407	0.100000	0.17581	0.471000	0.43371	CGG		TCGA-IB-7651-01A-11D-2154-08	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	1	0	1	9	28	0	12	1	9.999846e-01	3	89	0	12	2		0	0	0	0	0	2	1	9.961834e-01	9	28	0	12	2								-19.272090	1	1	115356	1	24	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999050	0.990000	1	9.900000e-01	1
ILVBL	10994	broad.mit.edu	37	19	15226130	15226130	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15226130C>A	ENST00000263383.3	-	16	1971	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like			26					AACCGGGTGGCCGTCTCGGCA	0.637000																								0							SO:0001583	missense			ENST00000263383.3	1	1	hg19	CCDS12325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940381|3.940381	0.73557|0.73557	.|.	.|.	ENSG00000105135|ENSG00000105135	ENST00000269733|ENST00000263383	.|T	.|0.48522	.|0.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.77545	.|0.4146	H|H	0.96080|0.96080	3.765|3.765	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.70227	.|0.968	.|D	.|0.84377	.|0.0547	.|10	.|0.66056	.|D	.|0.02	.|-28.1197	14.6173|14.6173	0.68558|0.68558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|611	.|A1L0T0	.|ILVBL_HUMAN	.|V	-1|611	.|ENSP00000263383:G611V	.|ENSP00000263383:G611V	.|G	-|-	.|2	.|0	ILVBL|ILVBL	15087130|15087130	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.611000|0.611000	0.37282|0.37282	7.211000|7.211000	0.77933|0.77933	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	.|GGC		TCGA-IB-7651-01A-11D-2154-08	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	1	0	1	84	371	0	82	1	1	80	165	0	82	2		0	0	0	0	0	2	1	1	82	364	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ILVBL	10994	broad.mit.edu	37	19	15233511	15233511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15233511C>T	ENST00000263383.3	-	6	848	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I|ILVBL_ENST00000531635.1_5'UTR|AC003956.1_ENST00000598450.1_RNA	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like			26					CACCAGGAGACCACTCGGCCC	0.597000																								0							SO:0001583	missense			ENST00000263383.3	1	1	hg19	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	8.052	0.766195	0.15983	.	.	ENSG00000105135	ENST00000263383;ENST00000527093	T	0.30448	1.53	4.36	1.06	0.20224	.	0.423880	0.25552	N	0.029899	T	0.20577	0.0495	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15464	-1.0436	10	0.33940	T	0.23	-13.666	6.6627	0.23022	0.0:0.6123:0.0:0.3877	.	237	A1L0T0	ILVBL_HUMAN	I	237	ENSP00000263383:V237I	ENSP00000263383:V237I	V	-	1	0	ILVBL	15094511	0.122000	0.22280	0.001000	0.08648	0.082000	0.17680	0.614000	0.24314	0.141000	0.18875	-0.291000	0.09656	GTC		TCGA-IB-7651-01A-11D-2154-08	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	1	0	1	50	215	0	61	1	1	33	96	0	61	2		0	0	0	0	0	2	1	1	48	208	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15271773	15271773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15271773C>T	ENST00000263388.2	-	33	6741	c.6666G>A	c.(6664-6666)ccG>ccA	p.P2222P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		CCCCAGCCGCCGGGTACTCCT	0.711000																								0							SO:0001819	synonymous_variant			ENST00000263388.2	0	1	hg19	CCDS12326.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	0	12	54	0	8	0	1	0	251	0	8	2		0	0	0	0	0	2	1	9.993620e-01	12	53	0	7	2								-19.998730	1	0	119298	5	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998959	0.990000	1	9.900000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15276713	15276713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15276713C>T	ENST00000263388.2	-	30	5627	c.5552G>A	c.(5551-5553)cGt>cAt	p.R1851H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		TGCATCAGCACGGGCATAACG	0.642000																								0							SO:0001583	missense			ENST00000263388.2	1	1	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098280	0.94197	.	.	ENSG00000074181	ENST00000263388	T	0.62639	0.01	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.29684	N	0.011477	T	0.66317	0.2777	N	0.12443	0.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72701	-0.4214	10	0.87932	D	0	.	18.0231	0.89261	0.0:1.0:0.0:0.0	.	1851	Q9UM47	NOTC3_HUMAN	H	1851	ENSP00000263388:R1851H	ENSP00000263388:R1851H	R	-	2	0	NOTCH3	15137713	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.557000	0.82243	2.790000	0.95986	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	0	19	162	0	34	0	9.999999e-01	1	265	0	34	2		0	0	0	0	0	2	1	9.999921e-01	19	159	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.790000	1.000000	1.000000	0.983392	0.990000	1	9.900000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15284889	15284889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15284889C>T	ENST00000263388.2	-	25	4801	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		CCGATCACCTCGGGGGCCAGC	0.637000																								0							SO:0001583	missense			ENST00000263388.2	1	1	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192522	0.58017	.	.	ENSG00000074181	ENST00000263388	T	0.33654	1.4	4.68	4.68	0.58851	Notch, NODP domain (1);	.	.	.	.	T	0.35595	0.0937	L	0.53249	1.67	0.51012	D	0.999904	P	0.42039	0.769	B	0.40199	0.322	T	0.12967	-1.0527	9	0.21540	T	0.41	.	16.3591	0.83246	0.0:1.0:0.0:0.0	.	1576	Q9UM47	NOTC3_HUMAN	K	1576	ENSP00000263388:E1576K	ENSP00000263388:E1576K	E	-	1	0	NOTCH3	15145889	0.999000	0.42202	0.909000	0.35828	0.350000	0.29205	5.378000	0.66190	2.156000	0.67533	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1	54	204	0	40	1	1	2	179	0	40	2		0	0	0	0	0	2	1	1	54	200	0	39	2								-3.553527	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15291787	15291787	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15291787C>T	ENST00000263388.2	-	18	3054	c.2979G>A	c.(2977-2979)acG>acA	p.T993T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		ACTGCGGGCCCGTGAAGCTCT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000263388.2	0	1	hg19	CCDS12326.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1	10	46	0	10	1	9.999522e-01	14	90	0	10	2		0	0	0	0	0	2	1	9.970187e-01	9	44	0	10	2								-19.141450	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997678	0.990000	1	9.900000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15295262	15295262	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15295262C>A	ENST00000263388.2	-	16	2486		c.e16-1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		CATCGTGGGCCTGGGGGTAGG	0.622000																								0		GRCh37	CS063353	NOTCH3	S		SO:0001630	splice_region_variant			ENST00000263388.2	1	1	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578469	0.28180	.	.	ENSG00000074181	ENST00000263388	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0482	0.47872	0.0:0.9138:0.0:0.0862	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15156262	1.000000	0.71417	0.749000	0.31150	0.125000	0.20455	6.577000	0.74027	2.420000	0.82092	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1	35	206	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	35	202	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15296115	15296115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296115C>A	ENST00000263388.2	-	14	2324	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		TCCATCGCTGCTGCATGTCCC	0.662000																								0							SO:0001583	missense			ENST00000263388.2	1	1	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509253	0.04231	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.04	0.389	0.16269	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.518457	0.14525	N	0.314219	T	0.28499	0.0705	N	0.10707	0.03	0.24311	N	0.995084	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.10314	-1.0635	10	0.31617	T	0.26	.	1.9816	0.03427	0.1487:0.1388:0.4477:0.2648	.	753;750	Q59FL3;Q9UM47	.;NOTC3_HUMAN	I	750;752	ENSP00000263388:S750I	ENSP00000263388:S750I	S	-	2	0	NOTCH3	15157115	0.125000	0.22332	0.922000	0.36590	0.109000	0.19521	0.849000	0.27723	-0.056000	0.13221	-0.356000	0.07607	AGC		TCGA-IB-7651-01A-11D-2154-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1	58	213	0	26	1	1	16	142	0	26	2		0	0	0	0	0	2	1	1	56	208	0	26	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15296201	15296201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296201C>A	ENST00000263388.2	-	14	2238	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3			93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		TCCAGCCAGGCTCACACACAC	0.692000																								0							SO:0001583	missense			ENST00000263388.2	0	1	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571512	0.13623	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.07	1.76	0.24704	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.256337	0.20577	N	0.089609	T	0.35158	0.0922	L	0.28504	0.86	0.43203	D	0.995058	B;B	0.10296	0.003;0.001	B;B	0.19666	0.016;0.026	T	0.08722	-1.0708	10	0.07175	T	0.84	.	4.3809	0.11293	0.1624:0.59:0.0:0.2476	.	724;721	Q59FL3;Q9UM47	.;NOTC3_HUMAN	D	721;723	ENSP00000263388:E721D	ENSP00000263388:E721D	E	-	3	2	NOTCH3	15157201	0.087000	0.21565	1.000000	0.80357	0.986000	0.74619	-0.638000	0.05452	0.543000	0.28864	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1	17	144	0	25	1	9.999842e-01	10	160	0	25	2		0	0	0	0	0	2	1	9.999713e-01	17	142	0	25	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.770000	1.000000	1.000000	0.981589	0.990000	1	9.900000e-01	1
NOTCH3	4854	broad.mit.edu	37	19	15299878	15299878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15299878C>T	ENST00000263388.2	-	8	1375	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	p.E434K(1)		93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		GACAGACACTCGTTGACATCG	0.647000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000263388.2	1	1	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300635	0.95601	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.98849	-5.18	4.77	4.77	0.60923	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99149	0.9706	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99541	1.0963	9	0.87932	D	0	.	16.582	0.84717	0.0:1.0:0.0:0.0	.	437;434	Q59FL3;Q9UM47	.;NOTC3_HUMAN	K	434;436	ENSP00000263388:E434K	ENSP00000263388:E434K	E	-	1	0	NOTCH3	15160878	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.934000	0.70138	2.202000	0.70862	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	1	0	1	79	223	0	47	0	1	0	246	0	47	2		0	0	0	0	0	2	1	1	77	217	0	46	2								-5.519275	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHX3	79852	broad.mit.edu	37	19	15342604	15342604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342604G>A	ENST00000221730.3	-	2	532	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_ENST00000435261.1_Silent_p.H104H|EPHX3_ENST00000602233.1_Silent_p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3			7					CAGGGAAGCCGTGCAGAAACA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000221730.3	1	1	hg19	CCDS12327.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	1	0	0	71	326	0	77	0	2.239296e-01	0	4	0	77	2		0	0	0	0	0	2	1	1	70	323	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHX3	79852	broad.mit.edu	37	19	15342655	15342655	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342655C>T	ENST00000221730.3	-	2	481	c.261G>A	c.(259-261)ctG>ctA	p.L87L	EPHX3_ENST00000435261.1_Silent_p.L87L|EPHX3_ENST00000602233.1_Silent_p.L87L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3			7					AGACATAGTGCAGACGCAGGC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000221730.3	1	1	hg19	CCDS12327.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	0	0	0	14	352	0	59	0	9.966631e-03	0	4	0	59	2		0	0	0	0	0	2	1	9.997532e-01	14	349	0	57	2								-14.342910	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.260000	1.000000	0.450000	0.519747	0.470000	0	3.500000e-01	6.500000e-01
BRD4	23476	broad.mit.edu	37	19	15349989	15349989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15349989G>A	ENST00000263377.2	-	18	3884	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4			21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		CGAAGCTGTCGCTGGATGACT	0.617000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0							SO:0001819	synonymous_variant			ENST00000263377.2	1	1	hg19	CCDS12328.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	1	0	0	13	165	0	34	1	9.953781e-01	2	116	0	34	2		0	0	0	0	0	2	1	9.995814e-01	13	164	0	34	2								-17.312130	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.900000	0.500000	1.000000	1.000000	0.859231	0.900000	1	6.700000e-01	1
BRD4	23476	broad.mit.edu	37	19	15364970	15364970	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4			21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		AACCTGTTTCGGAGTCTTCGC	0.542000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0							SO:0001819	synonymous_variant			ENST00000263377.2	1	1	hg19	CCDS12328.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	1	0	1	19	199	0	46	1	9.952694e-01	20	73	0	46	2		0	0	0	0	0	2	1	9.999905e-01	19	193	0	45	2								-3.075762	1	0	121412	11	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.660000	1.000000	1.000000	0.942495	0.990000	1	8.400000e-01	1
BRD4	23476	broad.mit.edu	37	19	15365050	15365050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15365050C>T	ENST00000263377.2	-	11	2292	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S	BRD4_ENST00000371835.4_Missense_Mutation_p.G691S|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.G691S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4			21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		TTGGAGGAGCCGGCAATCACA	0.572000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0							SO:0001583	missense			ENST00000263377.2	1	1	hg19	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192950	0.94960	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.40756	1.02;1.02;1.02	5.22	5.22	0.72569	.	0.204699	0.33854	N	0.004493	T	0.54935	0.1889	L	0.52573	1.65	0.48288	D	0.999623	D;D;D	0.67145	0.996;0.995;0.996	P;P;P	0.58210	0.835;0.752;0.835	T	0.52548	-0.8561	10	0.45353	T	0.12	-24.2424	17.9359	0.89012	0.0:1.0:0.0:0.0	.	691;691;691	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	S	691	ENSP00000263377:G691S;ENSP00000360901:G691S;ENSP00000353112:G691S	ENSP00000263377:G691S	G	-	1	0	BRD4	15226050	1.000000	0.71417	0.984000	0.44739	0.942000	0.58702	6.706000	0.74649	2.608000	0.88229	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	1	0	1	49	187	0	36	1	1	13	103	0	36	2		0	0	0	0	0	2	1	1	49	183	0	36	2								-3.283925	1	0	121412	6	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRD4	23476	broad.mit.edu	37	19	15366169	15366169	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15366169G>A	ENST00000263377.2	-	10	2207	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	BRD4_ENST00000371835.4_Silent_p.S662S|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Silent_p.S662S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4			21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		CACGCAGTGTGGACGGCTTCA	0.582000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0							SO:0001819	synonymous_variant			ENST00000263377.2	1	1	hg19	CCDS12328.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	0	0	0	21	364	0	61	1	9.717633e-01	2	101	0	61	2		0	0	0	0	0	2	1	9.999972e-01	20	357	0	61	2								-19.998730	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.660000	0.420000	1.000000	0.640000	0.692500	0.660000	0	5.300000e-01	8.600000e-01
BRD4	23476	broad.mit.edu	37	19	15375447	15375447	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15375447G>A	ENST00000263377.2	-	6	1201	c.980C>T	c.(979-981)cCt>cTt	p.P327L	BRD4_ENST00000371835.4_Missense_Mutation_p.P327L|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.P327L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4			21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		AGGTTTCACAGGCCGGCTGCT	0.652000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0							SO:0001583	missense			ENST00000263377.2	1	1	hg19	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739736	0.89573	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.37058	1.22;2.93;2.88	5.45	5.45	0.79879	Bromodomain (1);	0.000000	0.64402	D	0.000008	T	0.58090	0.2098	M	0.85542	2.76	0.80722	D	1	D;D;D	0.65815	0.995;0.968;0.987	P;P;P	0.57425	0.82;0.8;0.755	T	0.64487	-0.6396	10	0.66056	D	0.02	-8.4213	13.0701	0.59057	0.0:0.0:0.839:0.161	.	327;327;327	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	327	ENSP00000263377:P327L;ENSP00000360901:P327L;ENSP00000353112:P327L	ENSP00000263377:P327L	P	-	2	0	BRD4	15236447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.791000	0.85805	2.556000	0.86216	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	0	0	0	21	514	0	70	1	9.002529e-01	3	97	0	70	2		0	0	0	0	0	2	1	9.999964e-01	21	494	0	65	2								-19.740530	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.480000	0.300000	1.000000	0.460000	0.523777	0.480000	0	3.800000e-01	6.200000e-01
BRD4	23476	broad.mit.edu	37	19	15383882	15383882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15383882C>A	ENST00000263377.2	-	2	250	c.29G>T	c.(28-30)aGa>aTa	p.R10I	BRD4_ENST00000371835.4_Missense_Mutation_p.R10I|BRD4_ENST00000360016.5_Missense_Mutation_p.R10I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4			21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		ATTTCTCAATCTCGTCCCAGG	0.552000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0							SO:0001583	missense			ENST00000263377.2	1	1	hg19	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587167	0.86851	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.50813	0.73;2.65;2.48	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.61739	0.2371	L	0.58101	1.795	0.80722	D	1	D;P;D	0.59767	0.986;0.886;0.982	P;P;P	0.56278	0.731;0.475;0.795	T	0.64394	-0.6418	10	0.87932	D	0	-17.1711	18.2814	0.90099	0.0:1.0:0.0:0.0	.	10;10;10	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	I	10	ENSP00000263377:R10I;ENSP00000360901:R10I;ENSP00000353112:R10I	ENSP00000263377:R10I	R	-	2	0	BRD4	15244882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.649000	0.61433	2.627000	0.88993	0.561000	0.74099	AGA		TCGA-IB-7651-01A-11D-2154-08	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	1	0	1	76	614	0	103	1	9.932590e-01	9	54	0	103	2		0	0	0	0	0	2	1	1	74	600	0	102	2								-19.999990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999665	0.990000	1	9.900000e-01	1
AKAP8	10270	broad.mit.edu	37	19	15484043	15484043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15484043G>A	ENST00000269701.2	-	5	540	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8			26					CATTGCGGTCGGACCCCAGGT	0.667000													GBM(190;1671 2163 3274 27186 30476)											0							SO:0001819	synonymous_variant			ENST00000269701.2	1	1	hg19	CCDS12329.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	1	0	1	49	233	0	53	1	9.981324e-01	11	37	0	53	2		0	0	0	0	0	2	1	1	50	230	0	53	2								-20.000000	1	1	121410	2	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP8L	26993	broad.mit.edu	37	19	15508540	15508540	+	Silent	SNP	C	C	T	rs79796304	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15508540C>T	ENST00000397410.5	-	10	1414	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Silent_p.T367T	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like			11					GAAAGTCAGCCGTCTGCTTAG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000397410.5	1	1	hg19	CCDS46005.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	1	0	0	29	364	0	81	1	9.998834e-01	15	160	0	81	2		0	0	0	0	0	2	1	1	29	362	0	81	2								-2.716733	1	1	120886	68	51	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.890000	0.600000	1.000000	1.000000	0.877396	0.890000	1	7.300000e-01	1
AKAP8L	26993	broad.mit.edu	37	19	15511996	15511996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15511996G>A	ENST00000397410.5	-	5	911	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.R200W	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like			11					TTCCAGGTCCGCCTCATCTGC	0.652000																								0							SO:0001583	missense			ENST00000397410.5	1	1	hg19	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357158	0.61293	.	.	ENSG00000011243	ENST00000397410	T	0.49139	0.79	4.74	1.06	0.20224	.	0.205156	0.38959	N	0.001507	T	0.49440	0.1557	L	0.34521	1.04	0.35636	D	0.81061	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.70935	0.898;0.953;0.971;0.898	T	0.54234	-0.8324	10	0.40728	T	0.16	-15.2885	7.3019	0.26426	0.0:0.1389:0.301:0.56	.	200;31;261;261	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	W	261	ENSP00000380557:R261W	ENSP00000380557:R261W	R	-	1	2	AKAP8L	15372996	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.672000	0.37523	0.390000	0.25115	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	1	0	1	273	1044	0	231	1	1	32	131	0	231	2		0	0	0	0	0	2	1	1	269	1032	0	225	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WIZ	58525	broad.mit.edu	37	19	15535824	15535824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15535824C>A	ENST00000389282.4	-	8	4413	c.4200G>T	c.(4198-4200)gaG>gaT	p.E1400D	WIZ_ENST00000599686.3_Missense_Mutation_p.E584D|WIZ_ENST00000545156.1_Missense_Mutation_p.E714D|WIZ_ENST00000263381.7_Missense_Mutation_p.E543D|WIZ_ENST00000599910.2_Missense_Mutation_p.E717D			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs			24					GGCCACACAGCTCGCAGCAGG	0.687000																								0							SO:0001583	missense			ENST00000389282.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418217	0.83449	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.29142	1.58;1.58;1.58	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.112944	0.64402	D	0.000013	T	0.45498	0.1345	L	0.40543	1.245	0.46317	D	0.998986	D;P;D	0.89917	1.0;0.829;1.0	D;P;D	0.91635	0.998;0.675;0.999	T	0.31336	-0.9947	10	0.54805	T	0.06	-25.1891	12.4141	0.55483	0.0:0.9189:0.0:0.0811	.	1400;543;584	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	D	1400;543;584;714	ENSP00000373933:E1400D;ENSP00000263381:E543D;ENSP00000445824:E714D	ENSP00000263381:E543D	E	-	3	2	WIZ	15396824	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.037000	0.49775	2.614000	0.88457	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	10	48	0	12	1	9.999652e-01	30	85	0	12	2		0	0	0	0	0	2	1	9.977216e-01	10	48	0	12	2								-19.286480	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997236	0.990000	1	9.900000e-01	1
WIZ	58525	broad.mit.edu	37	19	15558986	15558986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15558986G>A	ENST00000389282.4	-	2	346	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Missense_Mutation_p.R45W			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs			24					CGGGTGGACCGGAAGATGCCA	0.647000																								0							SO:0001583	missense			ENST00000389282.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691988	0.48097	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.03635	3.86	3.67	3.67	0.42095	.	.	.	.	.	T	0.03011	0.0089	.	.	.	0.80722	D	1	P	0.47350	0.894	B	0.31686	0.134	T	0.54569	-0.8274	8	0.62326	D	0.03	-5.3586	11.0863	0.48089	0.0:0.0:1.0:0.0	.	45	O95785-2	.	W	45	ENSP00000373933:R45W	ENSP00000263381:R45W	R	-	1	2	WIZ	15419986	0.986000	0.35501	0.974000	0.42286	0.738000	0.42128	2.482000	0.45224	2.043000	0.60533	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	103	461	0	102	1	8.652238e-01	3	15	0	102	2		0	0	0	0	0	2	1	1	102	459	0	98	2								-2.819874	1	1	120900	8	45	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGLYRP2	114770	broad.mit.edu	37	19	15580712	15580712	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15580712A>G	ENST00000340880.4	-	4	1852	c.1372T>C	c.(1372-1374)Tac>Cac	p.Y458H	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.Y458H	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2			28					CGTCCCTCGTACACGTAGCCG	0.706000																								0							SO:0001583	missense			ENST00000340880.4	1	1	hg19	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691722	0.88735	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.16457	2.34;2.34	5.12	5.12	0.69794	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.90145	3.09	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.58763	-0.7579	10	0.87932	D	0	-23.3948	12.8485	0.57844	1.0:0.0:0.0:0.0	.	458;458	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	H	458	ENSP00000345968:Y458H;ENSP00000292609:Y458H	ENSP00000292609:Y458H	Y	-	1	0	PGLYRP2	15441712	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.939000	0.87685	1.935000	0.56089	0.379000	0.24179	TAC		TCGA-IB-7651-01A-11D-2154-08	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	1	0	1	22	83	0	16	0	4.776739e-02	0	2	0	16	2		0	0	0	0	0	2	1	9.999995e-01	22	82	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
CYP4F8	11283	broad.mit.edu	37	19	15728970	15728970	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15728970C>A	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8			26					TCCTGCAGAGCTTGTGGTGGT	0.542000																								0											ENST00000441682.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	90	439	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	1	87	424	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F8	11283	broad.mit.edu	37	19	15733064	15733064	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15733064C>T	ENST00000441682.2	+	0	622							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8			26					AGGGCAGCACCTGTCTGGATG	0.587000																								0											ENST00000441682.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	42	161	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	40	158	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBD3	53615	broad.mit.edu	37	19	1578415	1578415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1578415G>A	ENST00000434436.3	-	6	929	c.800C>T	c.(799-801)gCt>gTt	p.A267V	MBD3_ENST00000585967.1_5'Flank|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000590550.2_Missense_Mutation_p.A211V|MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000156825.1_Missense_Mutation_p.A267V	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3			8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)			gtcgtcctcAGCGCAGGCCTT	0.716000																								0							SO:0001583	missense			ENST00000434436.3	1	1	hg19	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535481	0.64972	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98493	-4.96	4.32	-2.66	0.06077	.	0.849959	0.10277	N	0.694043	D	0.92293	0.7555	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84772	0.0768	10	0.66056	D	0.02	-1.199	1.1137	0.01710	0.2568:0.2808:0.3202:0.1423	.	235;267	O95983-2;O95983	.;MBD3_HUMAN	V	235;267	ENSP00000156825:A267V	ENSP00000156825:A267V	A	-	2	0	MBD3	1529415	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.207000	0.17395	-0.314000	0.08716	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	1	0	1	55	255	0	42	1	1	47	113	0	42	2		0	0	0	0	0	2	1	1	53	253	0	42	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F12	66002	broad.mit.edu	37	19	15791241	15791241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791241G>A	ENST00000550308.1	+	5	817	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R146H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	p.R146H(1)		41	Acute lymphoblastic leukemia(2;0.0367)			Fingolimod(DB08868)	AAGTGGAGCCGCCACCGTCGG	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000550308.1	0	1	hg19	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	3.972	-0.008247	0.07727	0.001589	2.33E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69306	-0.39;-0.39	2.92	-2.95	0.05564	.	0.171432	0.39475	N	0.001360	T	0.54983	0.1892	L	0.53249	1.67	0.22693	N	0.998841	B;B	0.28439	0.212;0.031	B;B	0.32465	0.146;0.04	T	0.50575	-0.8812	10	0.44086	T	0.13	.	7.658	0.28386	0.5238:0.0:0.4762:0.0	.	146;146	B4E270;Q9HCS2	.;CP4FC_HUMAN	H	146	ENSP00000448998:R146H;ENSP00000321821:R146H	ENSP00000321821:R146H	R	+	2	0	CYP4F12	15652241	0.000000	0.05858	0.020000	0.16555	0.049000	0.14656	-0.517000	0.06275	-0.303000	0.08856	-0.458000	0.05436	CGC		TCGA-IB-7651-01A-11D-2154-08	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	0	0	0	11	274	0	52	1	4.642043e-01	3	35	0	52	2		0	0	0	0	0	2	1	9.983585e-01	12	271	0	52	2								-3.952353	1	0	121344	68	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.480000	0.250000	1.000000	0.450000	0.529366	0.480000	0	3.500000e-01	6.800000e-01
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	G	A	rs141478890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.10_Silent_p.T165T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	p.T165T(1)		41	Acute lymphoblastic leukemia(2;0.0367)			Fingolimod(DB08868)	CCTATATAACGATCTTCAACA	0.537000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000550308.1	0	1	hg19	CCDS42517.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	1	0	1	51	273	1	54	1	6.905793e-01	9	20	1	54	4		0	0	0	0	0	2	1	9.999827e-01	50	267	1	54	19								-20.000000	1	0	121412	1	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F12	66002	broad.mit.edu	37	19	15794373	15794373	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15794373C>A	ENST00000550308.1	+	7	1098	c.718C>A	c.(718-720)Ctc>Atc	p.L240I	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L240I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12			41	Acute lymphoblastic leukemia(2;0.0367)			Fingolimod(DB08868)	CCAGCATATCCTCCAGCACAT	0.562000																								0							SO:0001583	missense			ENST00000550308.1	1	1	hg19	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	6.064	0.380036	0.11466	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70164	-0.46;-0.46	2.46	1.4	0.22301	.	0.321305	0.24412	U	0.038749	T	0.53449	0.1797	L	0.47190	1.495	0.09310	N	1	B	0.24576	0.106	B	0.31337	0.128	T	0.35500	-0.9786	10	0.22706	T	0.39	.	4.9421	0.13971	0.0:0.69:0.0:0.31	.	240	Q9HCS2	CP4FC_HUMAN	I	240	ENSP00000448998:L240I;ENSP00000321821:L240I	ENSP00000321821:L240I	L	+	1	0	CYP4F12	15655373	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.706000	0.25690	0.477000	0.27464	0.484000	0.47621	CTC		TCGA-IB-7651-01A-11D-2154-08	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	1	0	1	126	517	0	86	1	9.956489e-01	22	14	0	86	2		0	0	0	0	0	2	1	1	123	506	0	86	2								-3.111589	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F12	66002	broad.mit.edu	37	19	15807727	15807727	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15807727C>T	ENST00000550308.1	+	13	1787	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F12_ENST00000324632.10_Silent_p.I469I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12			41	Acute lymphoblastic leukemia(2;0.0367)			Fingolimod(DB08868)	GGAACTGCATCGGGCAGGCGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000550308.1	1	1	hg19	CCDS42517.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9	1	0	1	39	153	0	27	1	9.988606e-01	17	27	0	27	2		0	0	0	0	0	2	1	1	37	151	0	26	2								-20.000000	1	1	121410	1	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10H3	26532	broad.mit.edu	37	19	15852477	15852477	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852477C>T	ENST00000305892.1	+	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3			17					ACCCATCGTTCCATCACCTTT	0.502000																								0							SO:0001583	missense			ENST00000305892.1	1	1	hg19	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	7.105	0.574859	0.13623	.	.	ENSG00000171936	ENST00000305892	T	0.00605	6.27	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.608641	0.13515	U	0.382145	T	0.01320	0.0043	M	0.69358	2.11	0.09310	N	1	P	0.49185	0.92	P	0.52909	0.713	T	0.48186	-0.9057	10	0.87932	D	0	.	6.3262	0.21244	0.2945:0.7055:0.0:0.0	.	92	O60404	O10H3_HUMAN	F	92	ENSP00000307130:S92F	ENSP00000307130:S92F	S	+	2	0	OR10H3	15713477	0.092000	0.21681	0.067000	0.19924	0.087000	0.18053	0.648000	0.24828	1.320000	0.45209	0.185000	0.17295	TCC		TCGA-IB-7651-01A-11D-2154-08	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1	1	0	1	336	1560	0	352		0	0	0	0	352	2		0	0	0	0	0	2	1	1	310	1411	0	287	2								-20.000000	1	0	121412	1	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10H3	26532	broad.mit.edu	37	19	15852562	15852562	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852562C>T	ENST00000305892.1	+	1	360	c.360C>T	c.(358-360)ggC>ggT	p.G120G		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3			17					TGGTCATGGGCTATGATCACT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000305892.1	1	1	hg19	CCDS12334.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1	0	0	1	204	912	1	216		0	0	0	1	216	2		0	0	0	0	0	2	1	1	201	883	1	214	18								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F2	8529	broad.mit.edu	37	19	15990189	15990189	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990189G>T	ENST00000221700.6	-	12	1459	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2			46					AAAAGCCAGAGGTGACCTCTC	0.602000																								0							SO:0001583	missense			ENST00000221700.6	1	0	hg19	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	18.92	3.726074	0.69074	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.69435	-0.4	3.05	3.05	0.35203	.	0.180087	0.37136	U	0.002226	D	0.82861	0.5129	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86234	0.1639	10	0.87932	D	0	.	11.868	0.52505	0.0:0.0:1.0:0.0	.	455	P78329	CP4F2_HUMAN	H	455;306	ENSP00000221700:P455H	ENSP00000221700:P455H	P	-	2	0	CYP4F2	15851189	1.000000	0.71417	0.932000	0.37286	0.947000	0.59692	8.266000	0.89871	1.677000	0.50941	0.491000	0.48974	CCT		TCGA-IB-7651-01A-11D-2154-08	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	0	0	1	190	926	2	239	1	5.285897e-01	6	4	2	239	2		0	0	0	0	0	2	1	1	185	904	2	236	23								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F2	8529	broad.mit.edu	37	19	15990414	15990414	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990414C>A	ENST00000221700.6	-	11	1409	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2			46					GGCCCCGCACCTCAGGGTCCG	0.562000																								0							SO:0001630	splice_region_variant			ENST00000221700.6	1	0	hg19	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	9.571	1.120908	0.20877	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72835	-0.69	2.78	2.78	0.32641	.	0.306318	0.25801	U	0.028219	T	0.66470	0.2792	L	0.49256	1.55	0.80722	D	1	B	0.26902	0.163	B	0.37451	0.25	T	0.62277	-0.6888	9	.	.	.	.	11.279	0.49184	0.0:1.0:0.0:0.0	.	438	P78329	CP4F2_HUMAN	D	438;289	ENSP00000221700:E438D	.	E	-	3	2	CYP4F2	15851414	1.000000	0.71417	0.991000	0.47740	0.241000	0.25554	1.513000	0.35823	1.528000	0.49103	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	1	0	1	110	621	0	179	0	1.118720e-01	0	4	0	179	2		0	0	0	0	0	2	1	1	108	609	0	176	2								-20.000000	1	0	121410	2	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F2	8529	broad.mit.edu	37	19	15990671	15990671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990671G>T	ENST00000221700.6	-	10	1247	c.1152C>A	c.(1150-1152)tgC>tgA	p.C384*		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2			46					TCTCCTTCATGCACATGGTCA	0.587000																								0							SO:0001587	stop_gained			ENST00000221700.6	0	1	hg19	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	17.83	3.486683	0.63962	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	.	.	.	2.78	0.58	0.17402	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.332	0.21274	0.2863:0.0:0.7137:0.0	.	.	.	.	X	384;235	.	ENSP00000221700:C384X	C	-	3	2	CYP4F2	15851671	1.000000	0.71417	0.985000	0.45067	0.434000	0.31775	3.838000	0.55828	0.469000	0.27268	0.491000	0.48974	TGC		TCGA-IB-7651-01A-11D-2154-08	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	0	0	0	26	751	0	145	0	0	0	1	0	145	2		0	0	0	0	0	2	1	9.999999e-01	26	741	0	145	2								-3.448273	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.400000	0.260000	1.000000	0.400000	0.456602	0.400000	0	3.300000e-01	5.200000e-01
CYP4F2	8529	broad.mit.edu	37	19	15997079	15997079	+	Missense_Mutation	SNP	C	C	A	rs149428608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15997079C>A	ENST00000221700.6	-	8	1053	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2			46					TCAGCTTCTGCTCTTATGTCC	0.557000																								0							SO:0001583	missense			ENST00000221700.6	1	1	hg19	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	17.59	3.427758	0.62733	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.71934	-0.61	2.73	2.73	0.32206	.	0.000000	0.64402	U	0.000006	T	0.80768	0.4686	M	0.69523	2.12	0.49299	D	0.999777	D	0.76494	0.999	D	0.81914	0.995	T	0.82456	-0.0448	10	0.72032	D	0.01	.	11.1798	0.48620	0.0:1.0:0.0:0.0	.	320	P78329	CP4F2_HUMAN	S	320;171	ENSP00000221700:A320S	ENSP00000221700:A320S	A	-	1	0	CYP4F2	15858079	0.999000	0.42202	0.917000	0.36280	0.680000	0.39746	4.503000	0.60407	1.500000	0.48636	0.313000	0.20887	GCA		TCGA-IB-7651-01A-11D-2154-08	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	1	0	1	292	1289	0	297	1	3.426751e-02	2	0	0	297	2		0	0	0	0	0	2	1	1	288	1264	0	295	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F2	8529	broad.mit.edu	37	19	16000481	16000481	+	Missense_Mutation	SNP	C	C	T	rs144233412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16000481C>T	ENST00000221700.6	-	7	765	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	CYP4F2_ENST00000011989.7_Missense_Mutation_p.A75T	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2			46					TCCAAGATGGCGGCAATATAT	0.502000																								0							SO:0001583	missense			ENST00000221700.6	1	0	hg19	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	17.23	3.336851	0.60963	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.70869	-0.52;-0.52	2.72	0.391	0.16282	.	0.000000	0.64402	U	0.000006	T	0.67163	0.2864	M	0.74546	2.27	0.40763	D	0.983027	P;B	0.45078	0.85;0.286	P;B	0.45232	0.474;0.19	T	0.63207	-0.6689	10	0.52906	T	0.07	.	4.7122	0.12879	0.2133:0.657:0.0:0.1297	.	75;224	B4DV75;P78329	.;CP4F2_HUMAN	T	224;75;75	ENSP00000221700:A224T;ENSP00000011989:A75T	ENSP00000011989:A75T	A	-	1	0	CYP4F2	15861481	0.589000	0.26807	0.167000	0.22817	0.942000	0.58702	1.084000	0.30828	0.028000	0.15324	0.305000	0.20034	GCC		TCGA-IB-7651-01A-11D-2154-08	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	1	0	1	148	622	0	171	1	2.482523e-01	3	2	0	171	2		0	0	0	0	0	2	1	1	147	607	0	170	2								-20.000000	1	0	121410	23	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP4F11	57834	broad.mit.edu	37	19	16034677	16034677	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16034677T>G	ENST00000402119.4	-	6	1289	c.863A>C	c.(862-864)aAg>aCg	p.K288T	CYP4F11_ENST00000248041.8_Missense_Mutation_p.K288T|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Missense_Mutation_p.K288T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11			25					TGCCTTGTTCTTGAGGAAATC	0.517000																								0							SO:0001583	missense			ENST00000402119.4	1	1	hg19	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	t	13.56	2.275051	0.40194	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.69806	-0.43;-0.43;0.09	2.67	0.362	0.16113	.	0.189124	0.31347	U	0.007806	T	0.53367	0.1792	L	0.35854	1.095	0.09310	N	1	B;B	0.24675	0.109;0.079	B;B	0.35727	0.209;0.141	T	0.49679	-0.8914	10	0.59425	D	0.04	.	3.7117	0.08423	0.0:0.1429:0.2268:0.6303	.	288;288	F8W978;Q9HBI6	.;CP4FB_HUMAN	T	288	ENSP00000384588:K288T;ENSP00000248041:K288T;ENSP00000319859:K288T	ENSP00000248041:K288T	K	-	2	0	CYP4F11	15895677	0.887000	0.30362	0.029000	0.17559	0.308000	0.27856	1.765000	0.38481	0.216000	0.20781	0.254000	0.18369	AAG		TCGA-IB-7651-01A-11D-2154-08	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	1	0	1	168	683	0	182	1	7.171290e-01	3	9	0	182	2		0	0	0	0	0	2	1	1	166	672	0	181	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF3	6929	broad.mit.edu	37	19	1615357	1615357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615357C>A	ENST00000262965.5	-	18	2093	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3			16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)			TCTGGGGCTTCTCGCTGTTGA	0.642000			T	PBX1, HLF, TFPT	pre B-ALL										Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0							SO:0001583	missense			ENST00000262965.5	1	1	hg19	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	3.049	-0.195757	0.06259	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.97959	-4.63;-4.63	4.32	1.97	0.26223	Helix-loop-helix DNA-binding (5);	0.233607	0.43110	N	0.000618	D	0.90553	0.7039	N	0.02685	-0.53	0.80722	D	1	B;P;B	0.40376	0.0;0.715;0.002	B;P;B	0.46685	0.003;0.524;0.027	D	0.87914	0.2699	10	0.02654	T	1	-14.8527	5.9245	0.19101	0.0:0.6186:0.0:0.3814	.	583;587;520	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	D	583;587	ENSP00000262965:E583D;ENSP00000378813:E587D	ENSP00000262965:E583D	E	-	3	2	TCF3	1566357	0.949000	0.32298	0.999000	0.59377	0.994000	0.84299	-0.017000	0.12590	0.777000	0.33496	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	0	0	0	23	573	0	96	1	9.374834e-01	4	114	0	96	2		0	0	0	0	0	2	1	9.999993e-01	23	567	0	95	2								-19.952410	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.300000	1.000000	0.460000	0.515144	0.470000	0	3.700000e-01	6.100000e-01
TCF3	6929	broad.mit.edu	37	19	1615576	1615576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615576C>T	ENST00000395423.3	-	14	1569	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Intron			Q9HCS4	TF7L1_HUMAN	transcription factor 3			16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)			GGGGGAAGAGCGTGGGGCCCG	0.701000			T	PBX1, HLF, TFPT	pre B-ALL										Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0							SO:0001819	synonymous_variant			ENST00000395423.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TCF3-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000449374.1	0	0	0	55	262	0	35	0	0	1	0	0	35	2		0	0	0	0	0	2	1	1	54	258	0	35	2								-20.000000	1	1	120360	3	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB8A	4218	broad.mit.edu	37	19	16232605	16232605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16232605C>A	ENST00000300935.3	+	3	504	c.231C>A	c.(229-231)taC>taA	p.Y77*	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family			8					CAACGGCCTACTACAGGGGTG	0.448000																								0							SO:0001587	stop_gained			ENST00000300935.3	0	1	hg19	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382872	0.95967	.	.	ENSG00000167461	ENST00000300935	.	.	.	4.6	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1928	0.31379	0.0:0.8137:0.0:0.1863	.	.	.	.	X	77	.	ENSP00000300935:Y77X	Y	+	3	2	RAB8A	16093605	0.997000	0.39634	1.000000	0.80357	0.536000	0.34869	0.511000	0.22739	0.942000	0.37525	0.305000	0.20034	TAC		TCGA-IB-7651-01A-11D-2154-08	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	1	0	1	84	370	0	98	1	1	19	304	0	98	2		0	0	0	0	0	2	1	1	84	365	0	98	2								-3.332338	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF3	6929	broad.mit.edu	37	19	1625590	1625590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1625590C>T	ENST00000262965.5	-	7	828	c.484G>A	c.(484-486)Gca>Aca	p.A162T	TCF3_ENST00000395423.3_Missense_Mutation_p.A111T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000453954.2_Missense_Mutation_p.A78T	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3			16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)			CTGCCGTCTGCCGCTCTCCGC	0.697000			T	PBX1, HLF, TFPT	pre B-ALL										Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0							SO:0001583	missense			ENST00000262965.5	1	1	hg19	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103203	0.08731	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.55234	0.53;0.53;0.53	4.52	3.48	0.39840	.	0.287580	0.34628	N	0.003805	T	0.41259	0.1151	L	0.46157	1.445	0.32262	N	0.570039	B;B;P	0.37688	0.269;0.012;0.605	B;B;B	0.34093	0.088;0.012;0.175	T	0.52275	-0.8597	10	0.39692	T	0.17	-13.5314	9.4074	0.38471	0.0:0.898:0.0:0.102	.	162;162;111	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	T	162;162;162;111	ENSP00000262965:A162T;ENSP00000344375:A162T;ENSP00000378813:A111T	ENSP00000262965:A162T	A	-	1	0	TCF3	1576590	0.883000	0.30277	0.250000	0.24296	0.053000	0.15095	1.336000	0.33850	0.886000	0.36113	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	1	0	0	19	67	0	17	1	1	34	95	0	17	2		0	0	0	0	0	2	1	9.999957e-01	19	66	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
AP1M1	8907	broad.mit.edu	37	19	16314368	16314368	+	Silent	SNP	G	G	A	rs146062531	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16314368G>A	ENST00000291439.3	+	2	590	c.141G>A	c.(139-141)tcG>tcA	p.S47S	AP1M1_ENST00000444449.2_Silent_p.S47S|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Silent_p.S47S|AP1M1_ENST00000590756.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit			21					GGATGCTGTCGCCCATCCTGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000291439.3	1	1	hg19	CCDS12342.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	1	0	1	61	339	0	78	1	9.999999e-01	23	111	0	78	2		0	0	0	0	0	2	1	1	60	334	0	75	2								-20.000000	1	1	121412	21	46	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP1M1	8907	broad.mit.edu	37	19	16339685	16339685	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16339685C>T	ENST00000291439.3	+	9	1442	c.993C>T	c.(991-993)agC>agT	p.S331S	AP1M1_ENST00000444449.2_Silent_p.S343S|AP1M1_ENST00000541844.1_Silent_p.S259S|AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000590756.1_Silent_p.S259S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit			21					CGGTGGGGAGCGTTAAGTGGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000291439.3	1	1	hg19	CCDS12342.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	0	0	1	55	188	1	51	1	9.999999e-01	45	196	1	51	16		0	0	0	0	0	2	1	9.999999e-01	54	187	1	51	16								-20.000000	1	1	121412	2	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM38A	79041	broad.mit.edu	37	19	16791297	16791297	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16791297T>G	ENST00000187762.2	+	3	462	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A			15					ATGAAGGAGGTGGTGCGAGTC	0.542000																								0							SO:0001583	missense			ENST00000187762.2	1	1	hg19	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.675985	0.88445	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82824	-0.0266	9	0.87932	D	0	-30.6057	14.1028	0.65068	0.0:0.0:0.0:1.0	.	124	Q9H6F2	TM38A_HUMAN	G	124	.	ENSP00000187762:V124G	V	+	2	0	TMEM38A	16652297	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.903000	0.87398	1.991000	0.58162	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	0	0	1	246	1019	0	258	1	9.995458e-01	24	23	0	258	2		0	0	0	0	0	2	1	1	240	990	0	255	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NWD1	284434	broad.mit.edu	37	19	16899861	16899861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16899861C>T	ENST00000552788.1	+	11	2800	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	NWD1_ENST00000379808.3_Silent_p.L934L|NWD1_ENST00000524140.2_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000523826.1_Silent_p.L728L|NWD1_ENST00000549814.1_Silent_p.L934L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1			67					GGATTACACGCTGCACTTGTG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000552788.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	1	0	1	94	327	0	112	1	1.293378e-01	2	1	0	112	2		0	0	0	0	0	2	1	1	93	320	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NWD1	284434	broad.mit.edu	37	19	16905360	16905360	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16905360C>T	ENST00000552788.1	+	13	3300	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000524140.2_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000549814.1_Silent_p.A1100A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1			67					CCCTCCTCGCCGCAGGTAGCG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000552788.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	0	0	0	8	52	0	20	1	1.616005e-01	2	3	0	20	2		0	0	0	0	0	2	1	9.910635e-01	8	52	0	20	2								-7.302029	1	1	121362	12	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.760000	1.000000	1.000000	0.983937	0.990000	1	9.900000e-01	1
NWD1	284434	broad.mit.edu	37	19	16926085	16926085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16926085C>T	ENST00000552788.1	+	18	4640	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1			67					TCAGAAAGTGCCCAGGGAAAT	0.458000																								0							SO:0001583	missense			ENST00000552788.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.27	1.305035	0.23736	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T	0.57595	0.51;0.39;0.45;0.45	4.86	2.67	0.31697	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	1	B;B	0.17038	0.011;0.02	B;B	0.12156	0.005;0.007	T	0.24548	-1.0157	8	0.02654	T	1	.	7.5034	0.27530	0.0:0.7179:0.0:0.2821	.	1547;1412	Q149M9;C9J2Y8	NWD1_HUMAN;.	V	1412;1505;1341;1547;1412	ENSP00000447548:A1505V;ENSP00000428955:A1341V;ENSP00000447224:A1547V;ENSP00000340159:A1412V	ENSP00000340159:A1412V	A	+	2	0	NWD1	16787085	0.000000	0.05858	0.006000	0.13384	0.207000	0.24258	0.034000	0.13776	1.169000	0.42739	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	0	0	1	24	177	0	44	1	1.631611e-01	2	4	0	44	2		0	0	0	0	0	2	1	9.999997e-01	23	173	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.950000	1.000000	1.000000	0.996693	0.990000	1	9.900000e-01	1
SIN3B	23309	broad.mit.edu	37	19	16977334	16977334	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16977334C>T	ENST00000248054.5	+	12	1794	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	SIN3B_ENST00000595541.1_Silent_p.S181S|SIN3B_ENST00000379803.1_Silent_p.S623S					SIN3 transcription regulator family member B			26					GCTCCAAGAGCTTGCTCAACG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000248054.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	1	0	1	69	365	0	75	1	9.999956e-01	26	70	0	75	2	1	1	227	778	0	950	2	1	1	67	361	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIN3B	23309	broad.mit.edu	37	19	16987345	16987345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16987345C>T	ENST00000248054.5	+	16	2836	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	SIN3B_ENST00000595541.1_Silent_p.L529L|SIN3B_ENST00000379803.1_Silent_p.L971L					SIN3 transcription regulator family member B			26					CATCGAGCTCCTGGACACCGA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000248054.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	1	0	1	54	212	0	32	1	9.997197e-01	13	38	0	32	2	1	1	232	1266	0	1413	2	1	1	54	206	0	32	2								-3.511915	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
F2RL3	9002	broad.mit.edu	37	19	17001352	17001352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17001352C>A	ENST00000248076.3	+	2	1408	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3			7					CCAACGGTCGCCGGGGGACAC	0.647000																								0							SO:0001583	missense			ENST00000248076.3	1	1	hg19	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701811	0.30232	.	.	ENSG00000127533	ENST00000248076	T	0.57436	0.4	4.15	1.75	0.24633	.	0.781535	0.10545	U	0.662160	T	0.35998	0.0951	L	0.27053	0.805	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.20840	-1.0263	10	0.14252	T	0.57	.	9.728	0.40344	0.6634:0.3366:0.0:0.0	.	360	Q96RI0	PAR4_HUMAN	T	360	ENSP00000248076:P360T	ENSP00000248076:P360T	P	+	1	0	F2RL3	16862352	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.489000	0.22387	0.676000	0.31285	0.491000	0.48974	CCG		TCGA-IB-7651-01A-11D-2154-08	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1	1	0	1	17	68	0	17	0	9.999184e-01	0	71	0	17	2		0	0	0	0	0	2	1	9.999733e-01	17	64	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999913	0.990000	1	9.900000e-01	1
CPAMD8	27151	broad.mit.edu	37	19	17010326	17010326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17010326T>C	ENST00000443236.1	-	37	4980	c.4949A>G	c.(4948-4950)tAt>tGt	p.Y1650C	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8			82					AGCCACTTCATACCTCTTCAT	0.577000																								0							SO:0001583	missense			ENST00000443236.1	1	1	hg19	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.02|18.02	3.530404|3.530404	0.64860|0.64860	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000013	T|T	0.79713|0.79713	0.4493|0.4493	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.81992|0.81992	-0.0678|-0.0678	5|9	.|0.56958	.|D	.|0.05	.|.	11.2812|11.2812	0.49195|0.49195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1603	.|Q8IZJ3	.|CPMD8_HUMAN	V|C	1661|1650	.|.	.|ENSP00000291440:Y1650C	M|Y	-|-	1|2	0|0	CPAMD8|CPAMD8	16871326|16871326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.702000|5.702000	0.68332|0.68332	1.123000|1.123000	0.41961|0.41961	0.444000|0.444000	0.29173|0.29173	ATG|TAT		TCGA-IB-7651-01A-11D-2154-08	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1	37	203	0	47	1	8.699776e-01	12	10	0	47	2		0	0	0	0	0	2	1	1	35	200	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
CPAMD8	27151	broad.mit.edu	37	19	17013581	17013581	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17013581C>T	ENST00000443236.1	-	35	4735	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8			82					GCATGGGGGGCGGGCGTCCCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000443236.1	1	0	hg19	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	2.048	-0.418387	0.04766	5.09E-4	0.001087	ENSG00000160111	ENST00000443236	.	.	.	2.24	-4.49	0.03504	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	.	0.9537	0.01381	0.1533:0.3568:0.1509:0.339	.	.	.	.	H	1579	.	.	R	-	2	0	CPAMD8	16874581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.634000	0.00869	-1.209000	0.02631	-2.791000	0.00116	CGC		TCGA-IB-7651-01A-11D-2154-08	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1	114	467	0	100	1	9.616922e-01	16	8	0	100	2		0	0	0	0	0	2	1	1	111	460	0	99	2								-2.827185	1	1	120872	72	51	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPAMD8	27151	broad.mit.edu	37	19	17025595	17025595	+	Missense_Mutation	SNP	C	C	T	rs57249432	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17025595C>T	ENST00000443236.1	-	28	3830	c.3799G>A	c.(3799-3801)Gca>Aca	p.A1267T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8			82					CGAGCCTGTGCGAAGGACTTC	0.612000																								0							SO:0001583	missense			ENST00000443236.1	1	0	hg19	CCDS42519.1	18	0.008241758241758242	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	15.50	2.851872	0.51270	0.018317	4.78E-4	ENSG00000160111	ENST00000291440	.	.	.	3.04	3.04	0.35103	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.075725	0.52532	U	0.000062	T	0.55816	0.1944	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71002	-0.4718	9	0.42905	T	0.14	.	14.0348	0.64638	0.0:1.0:0.0:0.0	rs57249432	1220	Q8IZJ3	CPMD8_HUMAN	T	1267	.	ENSP00000291440:A1267T	A	-	1	0	CPAMD8	16886595	1.000000	0.71417	0.949000	0.38748	0.249000	0.25844	3.483000	0.53194	1.265000	0.44215	0.555000	0.69702	GCA		TCGA-IB-7651-01A-11D-2154-08	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1	45	185	0	45	0	9.426361e-01	0	22	0	45	2		0	0	0	0	0	2	1	1	44	180	0	43	2								-2.726000	1	1	120960	237	53	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPAMD8	27151	broad.mit.edu	37	19	17132946	17132946	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17132946C>A	ENST00000443236.1	-	2	310	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8			82					TGATGACTTCCTCCACGCCCG	0.602000																								0							SO:0001583	missense			ENST00000443236.1	0	1	hg19	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.64|12.64	1.997869|1.997869	0.35226|0.35226	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.53640|.	0.61;0.62|.	3.06|3.06	2.0|2.0	0.26442|0.26442	.|.	0.317597|.	0.24012|.	U|.	0.042378|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.52759|0.52759	1.655|1.655	0.31172|0.31172	N|N	0.703042|0.703042	B|.	0.22276|.	0.067|.	B|.	0.15052|.	0.012|.	T|T	0.47182|0.47182	-0.9137|-0.9137	10|5	0.23302|.	T|.	0.38|.	.|.	6.1895|6.1895	0.20516|0.20516	0.0:0.7583:0.0:0.2417|0.0:0.7583:0.0:0.2417	.|.	46|.	Q8IZJ3|.	CPMD8_HUMAN|.	D|M	93;46|104	ENSP00000291440:E93D;ENSP00000373577:E46D|.	ENSP00000291440:E93D|.	E|R	-|-	3|2	2|0	CPAMD8|CPAMD8	16993946|16993946	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.795000|0.795000	0.44927|0.44927	2.502000|2.502000	0.45398|0.45398	0.290000|0.290000	0.22444|0.22444	-0.229000|-0.229000	0.12294|0.12294	GAG|AGG		TCGA-IB-7651-01A-11D-2154-08	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1	21	54	0	16	0	5.345610e-01	0	6	0	16	2		0	0	0	0	0	2	1	9.999993e-01	21	54	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MYO9B	4650	broad.mit.edu	37	19	17212778	17212778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17212778C>A	ENST00000594824.1	+	2	398	c.251C>A	c.(250-252)cCt>cAt	p.P84H	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H|MYO9B_ENST00000595618.1_Missense_Mutation_p.P84H			Q13459	MYO9B_HUMAN	myosin IXB			39					AACGACTCGCCTGTGCACCGG	0.637000																								0							SO:0001583	missense			ENST00000594824.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.40	3.820121	0.71028	.	.	ENSG00000099331	ENST00000397274	T	0.60672	0.17	4.93	4.93	0.64822	Ras-association (3);	0.000000	0.47852	D	0.000208	T	0.76198	0.3954	M	0.75615	2.305	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79249	-0.1881	10	0.62326	D	0.03	.	17.1436	0.86760	0.0:1.0:0.0:0.0	.	84;84;90	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	84	ENSP00000380444:P84H	ENSP00000380444:P84H	P	+	2	0	MYO9B	17073778	1.000000	0.71417	0.082000	0.20525	0.720000	0.41350	7.517000	0.81783	2.264000	0.75181	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	1	0	0	7	145	0	28	1	8.580137e-01	2	74	0	28	2		0	0	0	0	0	2	1	9.800072e-01	7	142	0	28	2								-10.333260	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.590000	0.260000	1.000000	1.000000	0.625946	0.590000	0	4.000000e-01	8.900000e-01
USE1	55850	broad.mit.edu	37	19	17327058	17327058	+	Silent	SNP	C	C	T	rs116643434	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17327058C>T	ENST00000263897.5	+	4	359	c.312C>T	c.(310-312)ccC>ccT	p.P104P	USE1_ENST00000379776.4_Silent_p.P104P|USE1_ENST00000595101.1_Silent_p.P104P|USE1_ENST00000445667.2_Silent_p.P104P|USE1_ENST00000596136.1_Silent_p.P104P	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)			6					AGCGAGTGCCCGCCACAAAGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000263897.5	1	0	hg19	CCDS46011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	1	0	1	61	289	0	72	1	1	48	94	0	72	2		0	0	0	0	0	2	1	1	60	256	0	61	2								-2.473695	0	1	120948	268	56	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR2F6	2063	broad.mit.edu	37	19	17343433	17343433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17343433C>T	ENST00000291442.3	-	4	1662	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6			5					AGGCCACAGGCGTCTAGGGGG	0.642000																								0							SO:0001583	missense			ENST00000291442.3	1	1	hg19	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681882	0.68042	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	T	0.51817	0.69	4.71	4.71	0.59529	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	U	0.000000	T	0.58018	0.2093	L	0.35593	1.075	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60596	-0.7232	10	0.54805	T	0.06	.	15.175	0.72903	0.0:1.0:0.0:0.0	.	315	P10588	NR2F6_HUMAN	T	315;288	ENSP00000291442:A315T	ENSP00000291442:A315T	A	-	1	0	NR2F6	17204433	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.943000	0.70211	2.168000	0.68352	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1	1	0	1	29	129	0	35	1	9.999867e-01	38	46	0	35	2		0	0	0	0	0	2	1	1	29	129	0	34	2								-20.000000	1	1	119482	1	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
USHBP1	83878	broad.mit.edu	37	19	17369103	17369103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17369103C>T	ENST00000252597.3	-	8	1311	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1			44					TTTTCAGCTGCTTGCAGGTCA	0.592000																								0							SO:0001583	missense			ENST00000252597.3	1	1	hg19	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	c	9.037	0.988810	0.18966	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.21031	2.04;2.03	4.11	1.9	0.25705	.	0.777662	0.11749	N	0.533250	T	0.15652	0.0377	L	0.56769	1.78	0.20638	N	0.999875	B;B	0.27498	0.18;0.18	B;B	0.19391	0.025;0.025	T	0.31503	-0.9941	10	0.10111	T	0.7	-0.2273	4.8094	0.13337	0.0:0.6537:0.2258:0.1206	.	316;380	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	T	380;316	ENSP00000252597:A380T;ENSP00000407902:A316T	ENSP00000252597:A380T	A	-	1	0	USHBP1	17230103	0.625000	0.27111	0.533000	0.28001	0.396000	0.30629	1.827000	0.39102	0.994000	0.38892	0.544000	0.68410	GCA		TCGA-IB-7651-01A-11D-2154-08	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	1	0	1	81	336	0	71	0	3.330039e-01	1	5	0	71	2		0	0	0	0	0	2	1	1	81	333	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USHBP1	83878	broad.mit.edu	37	19	17373371	17373371	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373371A>G	ENST00000252597.3	-	4	805	c.632T>C	c.(631-633)cTg>cCg	p.L211P	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1			44					CTCTTTCTGCAGCGTCTCCTT	0.592000																								0							SO:0001583	missense			ENST00000252597.3	1	1	hg19	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111685	0.56398	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.38722	1.18;1.12	3.83	3.83	0.44106	.	0.720289	0.11602	N	0.547680	T	0.52789	0.1756	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.996;0.982	T	0.50701	-0.8797	10	0.87932	D	0	-9.7072	10.8449	0.46737	1.0:0.0:0.0:0.0	.	147;211;211	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	P	211;147;211	ENSP00000252597:L211P;ENSP00000407902:L147P	ENSP00000252597:L211P	L	-	2	0	USHBP1	17234371	0.997000	0.39634	0.985000	0.45067	0.760000	0.43138	4.935000	0.63498	1.527000	0.49086	0.260000	0.18958	CTG		TCGA-IB-7651-01A-11D-2154-08	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	1	0	1	51	241	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	51	237	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USHBP1	83878	broad.mit.edu	37	19	17373654	17373654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373654C>A	ENST00000252597.3	-	4	522	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1			44					TGAAACACATCGGGGGCCCCA	0.652000																								0							SO:0001583	missense			ENST00000252597.3	1	1	hg19	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053407	0.19907	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.23950	1.92;1.88	3.98	1.83	0.25207	.	0.503260	0.17836	N	0.160369	T	0.30665	0.0772	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69654	0.936;0.965;0.965	T	0.03354	-1.1045	10	0.87932	D	0	-7.551	4.9626	0.14074	0.0:0.7191:0.0:0.2809	.	53;117;117	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	Y	117;53;117	ENSP00000252597:D117Y;ENSP00000407902:D53Y	ENSP00000252597:D117Y	D	-	1	0	USHBP1	17234654	0.005000	0.15991	0.045000	0.18777	0.018000	0.09664	1.028000	0.30128	0.960000	0.38005	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	1	0	1	141	503	0	92	0	4.813559e-02	0	2	0	92	2		0	0	0	0	0	2	1	1	140	493	1	91	22								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD8	79575	broad.mit.edu	37	19	17405187	17405187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17405187G>A	ENST00000247706.3	-	4	1298	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8			9					CGGCGTGGTAGACCTCGTCGC	0.617000													Ovarian(156;1368 2543 15275 41187)											0							SO:0001819	synonymous_variant			ENST00000247706.3	1	1	hg19	CCDS12355.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	1	0	1	107	433	0	90	1	9.999999e-01	19	74	0	90	2		0	0	0	0	0	2	1	1	106	428	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO8	57719	broad.mit.edu	37	19	17435885	17435885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17435885G>A	ENST00000159087.4	-	17	3130	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8			27					TGTGGCCCCTGACGAGAGGAA	0.667000																								0							SO:0001583	missense			ENST00000159087.4	1	1	hg19	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914818	0.33815	.	.	ENSG00000074855	ENST00000159087	T	0.67171	-0.25	3.87	3.87	0.44632	.	0.798338	0.11379	N	0.570010	T	0.74718	0.3753	L	0.36672	1.1	0.37414	D	0.913357	D	0.71674	0.998	D	0.76071	0.987	T	0.76231	-0.3035	10	0.72032	D	0.01	.	13.3031	0.60336	0.0:0.0:1.0:0.0	.	991	Q9HCE9	ANO8_HUMAN	L	991	ENSP00000159087:S991L	ENSP00000159087:S991L	S	-	2	0	ANO8	17296885	0.004000	0.15560	0.017000	0.16124	0.015000	0.08874	1.458000	0.35223	1.697000	0.51169	0.478000	0.44815	TCA		TCGA-IB-7651-01A-11D-2154-08	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	1	0	1	181	933	0	207	1	9.186412e-01	4	20	0	207	2		0	0	0	0	0	2	1	1	188	919	0	201	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO8	57719	broad.mit.edu	37	19	17442206	17442206	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17442206C>T	ENST00000159087.4	-	6	759	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8			27					ATCCCACGTGCTGCCAGCTCC	0.602000																								0							SO:0001583	missense			ENST00000159087.4	1	1	hg19	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057035	0.76074	.	.	ENSG00000074855	ENST00000159087	T	0.62105	0.05	5.3	5.3	0.74995	.	0.054739	0.64402	D	0.000001	T	0.57946	0.2088	L	0.51422	1.61	0.48236	D	0.999615	B	0.29341	0.242	B	0.31547	0.132	T	0.54036	-0.8353	10	0.22706	T	0.39	.	16.5003	0.84255	0.0:1.0:0.0:0.0	.	201	Q9HCE9	ANO8_HUMAN	T	201	ENSP00000159087:A201T	ENSP00000159087:A201T	A	-	1	0	ANO8	17303206	1.000000	0.71417	0.976000	0.42696	0.216000	0.24613	5.630000	0.67805	2.496000	0.84212	0.306000	0.20318	GCA		TCGA-IB-7651-01A-11D-2154-08	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	1	0	0	18	367	0	73	1	4.139304e-01	4	25	0	73	2		0	0	0	0	0	2	1	9.999816e-01	16	366	0	69	2								-18.813990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.570000	0.340000	1.000000	0.550000	0.609711	0.570000	0	4.400000e-01	7.600000e-01
ANO8	57719	broad.mit.edu	37	19	17443792	17443792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17443792G>A	ENST00000159087.4	-	5	691	c.533C>T	c.(532-534)gCc>gTc	p.A178V	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8			27					TCCCTGCTTGGCACGCAAATT	0.602000																								0							SO:0001583	missense			ENST00000159087.4	1	1	hg19	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507049	0.96386	.	.	ENSG00000074855	ENST00000159087	T	0.64438	-0.1	5.32	5.32	0.75619	.	0.166846	0.52532	D	0.000076	T	0.77758	0.4178	M	0.84683	2.71	0.47949	D	0.999559	D	0.56521	0.976	P	0.58577	0.841	T	0.77504	-0.2563	10	0.30854	T	0.27	.	16.4823	0.84161	0.0:0.0:1.0:0.0	.	178	Q9HCE9	ANO8_HUMAN	V	178	ENSP00000159087:A178V	ENSP00000159087:A178V	A	-	2	0	ANO8	17304792	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	9.123000	0.94387	2.499000	0.84300	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	1	0	1	54	228	0	56	1	9.916518e-01	10	24	0	56	2		0	0	0	0	0	2	1	1	53	227	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTPBP3	84705	broad.mit.edu	37	19	17448962	17448962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17448962G>T	ENST00000324894.8	+	2	267	c.199G>T	c.(199-201)Gca>Tca	p.A67S	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)			18					AATTCTCACAGCACCCCGAGA	0.711000																								0							SO:0001583	missense			ENST00000324894.8	0	1	hg19	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072863	0.36566	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792;ENST00000546035	T;T;T	0.29655	1.56;1.57;1.56	5.61	3.47	0.39725	GTP-binding protein TrmE, N-terminal (2);	0.157689	0.56097	D	0.000040	T	0.30386	0.0763	N	0.16656	0.425	0.28550	N	0.91166	B;B;B;D	0.57899	0.063;0.067;0.12;0.981	B;B;B;P	0.57101	0.032;0.065;0.061;0.813	T	0.07046	-1.0793	10	0.56958	D	0.05	-17.1603	10.3432	0.43891	0.1647:0.0:0.8353:0.0	.	89;67;67;67	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	89;67;67;67	ENSP00000354598:A89S;ENSP00000313818:A67S;ENSP00000351644:A67S	ENSP00000313818:A67S	A	+	1	0	GTPBP3	17309962	1.000000	0.71417	0.620000	0.29132	0.019000	0.09904	2.254000	0.43214	1.371000	0.46172	0.491000	0.48974	GCA		TCGA-IB-7651-01A-11D-2154-08	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	1	0	1	20	106	0	17	1	4.445983e-01	3	6	0	17	2		0	0	0	0	0	2	1	9.999663e-01	15	82	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999709	0.990000	1	9.900000e-01	1
GTPBP3	84705	broad.mit.edu	37	19	17449816	17449816	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17449816G>A	ENST00000324894.8	+	5	713	c.645G>A	c.(643-645)gaG>gaA	p.E215E	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000361619.5_Silent_p.E237E	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)			18					ACAACCTGGAGGAGGGGGTCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000324894.8	1	1	hg19	CCDS32951.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	1	0	1	76	346	0	89	1	9.989880e-01	19	30	0	89	2		0	0	0	0	0	2	1	1	73	340	0	88	2								-3.219695	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTPBP3	84705	broad.mit.edu	37	19	17450356	17450356	+	Missense_Mutation	SNP	C	C	T	rs151131704		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17450356C>T	ENST00000324894.8	+	7	990	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)			18					GGCTGGGTTGCGGGAGGGCGT	0.716000																								0							SO:0001583	missense			ENST00000324894.8	0	1	hg19	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.209797	0.79240	0.0	1.16E-4	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.18016	2.24;2.24;2.24	4.95	3.92	0.45320	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.057107	0.64402	D	0.000001	T	0.56920	0.2018	H	0.98577	4.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.998	T	0.71477	-0.4581	10	0.87932	D	0	-20.3885	11.2894	0.49241	0.0:0.909:0.0:0.091	.	330;308;308;340	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	W	330;308;340	ENSP00000354598:R330W;ENSP00000313818:R308W;ENSP00000351644:R340W	ENSP00000313818:R308W	R	+	1	2	GTPBP3	17311356	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.348000	0.44045	1.217000	0.43442	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	0	0	0	58	241	0	32	1	9.788518e-01	8	20	0	32	2		0	0	0	0	0	2	1	1	56	234	0	32	2								-20.000000	1	1	121184	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTPBP3	84705	broad.mit.edu	37	19	17452019	17452019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17452019C>T	ENST00000324894.8	+	8	1209	c.1141C>T	c.(1141-1143)Ccg>Tcg	p.P381S	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)			18					CCTGCTGTCCCCGGAGGGCCC	0.687000																								0							SO:0001583	missense			ENST00000324894.8	1	1	hg19	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093545	0.20471	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.13420	2.59;2.59;2.59	5.31	-10.6	0.00265	.	1.867520	0.02671	N	0.108547	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.29150	-1.0021	10	0.40728	T	0.16	1.6133	1.9569	0.03378	0.1559:0.2459:0.3338:0.2643	.	403;381;360;413	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	403;381;413	ENSP00000354598:P403S;ENSP00000313818:P381S;ENSP00000351644:P413S	ENSP00000313818:P381S	P	+	1	0	GTPBP3	17313019	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-3.115000	0.00598	-1.760000	0.01312	-1.370000	0.01191	CCG		TCGA-IB-7651-01A-11D-2154-08	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	1	0	1	9	174	0	39	1	6.844548e-01	5	41	0	39	2		0	0	0	0	0	2	1	9.939940e-01	9	170	0	39	2								-11.994930	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.620000	0.300000	1.000000	1.000000	0.651704	0.620000	0	4.400000e-01	9.000000e-01
PLVAP	83483	broad.mit.edu	37	19	17487909	17487909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17487909G>A	ENST00000252590.4	-	1	250	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein			27					CTCGGCGCTCGGTGGCCTGCA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000252590.4	1	1	hg19	CCDS32952.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	1	0	1	57	209	0	46	0	1	1	777	0	46	2		0	0	0	0	0	2	1	1	57	206	0	45	2								-20.000000	1	1	121412	8	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BST2	684	broad.mit.edu	37	19	17516300	17516300	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17516300G>A	ENST00000252593.6	-	1	157	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	BST2_ENST00000527220.1_5'UTR|CTD-2521M24.9_ENST00000500836.2_lincRNA	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2			9					AGGAGCACCAGAATTCCTATC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000252593.6	1	1	hg19	CCDS12358.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	1	0	1	80	384	0	86	1	1	120	1210	0	86	2		0	0	0	0	0	2	1	1	80	379	0	86	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC27A1	376497	broad.mit.edu	37	19	17581359	17581359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17581359C>T	ENST00000252595.7	+	1	107	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.P4S	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1			23					GATGCGGGCTCCGGGTGCGGG	0.771000																								0							SO:0001583	missense			ENST00000252595.7	0	1	hg19	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.520282	0.44866	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.43294	0.95;0.95	3.33	2.19	0.27852	.	0.703723	0.12393	U	0.472835	T	0.29158	0.0725	N	0.25647	0.755	0.25964	N	0.982589	B	0.20261	0.043	B	0.19946	0.027	T	0.21586	-1.0241	10	0.56958	D	0.05	.	8.4965	0.33132	0.0:0.5922:0.4078:0.0	.	4	Q6PCB7	S27A1_HUMAN	S	4	ENSP00000413424:P4S;ENSP00000252595:P4S	ENSP00000252595:P4S	P	+	1	0	SLC27A1	17442359	0.003000	0.15002	0.989000	0.46669	0.688000	0.40055	1.100000	0.31025	1.701000	0.51217	0.479000	0.44913	CCG		TCGA-IB-7651-01A-11D-2154-08	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	1	0	0	8	31	0	8	0	2.175675e-01	0	4	0	8	2		0	0	0	0	0	2	1	9.858791e-01	7	27	0	6	2								-19.940520	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997156	0.990000	1	9.900000e-01	1
SLC27A1	376497	broad.mit.edu	37	19	17615330	17615330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17615330G>A	ENST00000252595.7	+	12	1947	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1			23					ACCTCAGACCGGCTCTTCTTC	0.597000																								0							SO:0001583	missense			ENST00000252595.7	1	1	hg19	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	3.084	-0.188459	0.06299	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.46819	0.86;0.86	4.13	1.87	0.25490	.	0.145401	0.47852	N	0.000208	T	0.30103	0.0754	L	0.28115	0.83	0.24052	N	0.99605	B;B	0.22080	0.013;0.064	B;B	0.11329	0.004;0.006	T	0.13953	-1.0490	10	0.33141	T	0.24	-18.0686	8.3662	0.32389	0.0931:0.2886:0.6184:0.0	.	438;617	B7Z662;Q6PCB7	.;S27A1_HUMAN	Q	617	ENSP00000413424:R617Q;ENSP00000252595:R617Q	ENSP00000252595:R617Q	R	+	2	0	SLC27A1	17476330	0.423000	0.25482	0.921000	0.36526	0.308000	0.27856	1.473000	0.35387	-0.076000	0.12775	-1.134000	0.01955	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	1	0	1	78	355	0	94	1	1	40	92	0	94	2		0	0	0	0	0	2	1	1	78	347	0	94	2								-2.996363	1	1	121412	4	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGLS	25796	broad.mit.edu	37	19	17628198	17628198	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17628198G>T	ENST00000252603.2	+	3	542	c.498G>T	c.(496-498)caG>caT	p.Q166H	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase			2					CCCTCCTACAGGTGAGCACAC	0.622000																								0							SO:0001630	splice_region_variant			ENST00000252603.2	1	0	hg19	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019145	0.75275	.	.	ENSG00000130313	ENST00000252603	T	0.43688	0.94	5.03	5.03	0.67393	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.058221	0.64402	D	0.000001	T	0.54431	0.1858	L	0.43701	1.375	0.80722	D	1	D	0.56035	0.974	D	0.64595	0.927	T	0.49615	-0.8921	10	0.35671	T	0.21	-27.893	15.8907	0.79296	0.0:0.0:1.0:0.0	.	166	O95336	6PGL_HUMAN	H	166	ENSP00000252603:Q166H	ENSP00000252603:Q166H	Q	+	3	2	PGLS	17489198	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	8.833000	0.92089	2.339000	0.79563	0.485000	0.47835	CAG		TCGA-IB-7651-01A-11D-2154-08	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1	1	0	0	67	629	0	148	1	1	2	420	0	148	2		0	0	0	0	0	2	1	1	66	609	0	144	2								-3.075755	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.900000	1.000000	1.000000	0.993007	0.990000	1	9.900000e-01	1
FAM129C	199786	broad.mit.edu	37	19	17648286	17648286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17648286G>T	ENST00000335393.4	+	6	760	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000449408.2_5'UTR	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C			33					CTTCTCTGCAGCCACCAGGGA	0.632000																								0							SO:0001583	missense			ENST00000335393.4	1	1	hg19	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	g	10.32	1.318922	0.23994	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.42	-2.15	0.07102	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.776011	0.11182	N	0.590881	T	0.12774	0.0310	M	0.65975	2.015	0.09310	N	0.999998	P;B	0.48294	0.908;0.4	B;B	0.39660	0.306;0.121	T	0.30001	-0.9993	10	0.10902	T	0.67	-2.8879	4.3847	0.11311	0.2913:0.3137:0.3951:0.0	.	208;208	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	S	208;208;208;208;154	ENSP00000335040:A208S;ENSP00000333447:A208S;ENSP00000341067:A208S;ENSP00000300971:A208S	ENSP00000300971:A208S	A	+	1	0	FAM129C	17509286	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	-0.304000	0.08199	-0.599000	0.05798	-0.359000	0.07587	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	1	0	1	106	422	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	104	407	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC13A	23025	broad.mit.edu	37	19	17735744	17735744	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17735744T>C	ENST00000519716.2	-	35	4090	c.4091A>G	c.(4090-4092)aAa>aGa	p.K1364R	UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000428389.2_Missense_Mutation_p.K1452R	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)			61					CTCACAGATTTTGGCAAAGAG	0.582000																								0							SO:0001583	missense			ENST00000519716.2	1	1	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539558	0.45176	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	4.11	4.11	0.48088	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.182364	0.46758	N	0.000279	T	0.22003	0.0530	L	0.56769	1.78	0.39639	D	0.97029	B	0.06786	0.001	B	0.15870	0.014	T	0.05767	-1.0865	10	0.44086	T	0.13	-13.8649	11.3947	0.49834	0.0:0.0:0.0:1.0	.	1364	Q9UPW8	UN13A_HUMAN	R	1364;1452;1364;1364;1364;1362	ENSP00000429562:K1364R;ENSP00000400409:K1452R;ENSP00000252773:K1364R;ENSP00000447236:K1364R;ENSP00000447572:K1364R;ENSP00000446831:K1362R	ENSP00000252773:K1364R	K	-	2	0	UNC13A	17596744	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.824000	0.55723	1.648000	0.50643	0.254000	0.18369	AAA		TCGA-IB-7651-01A-11D-2154-08	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1	54	239	0	42	0	9.227872e-02	0	3	0	42	2		0	0	0	0	0	2	1	1	53	232	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC13A	23025	broad.mit.edu	37	19	17751421	17751421	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17751421C>T	ENST00000519716.2	-	22	2685	c.2686G>A	c.(2686-2688)Gtc>Atc	p.V896I	UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I|UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V894I|UNC13A_ENST00000428389.2_Missense_Mutation_p.V984I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)			61					GTGCTCATGACGGCAGGCACC	0.627000																								0							SO:0001583	missense			ENST00000519716.2	0	1	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951123	0.73787	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.83419	-1.7;-1.72;-1.7;-1.56;-1.57;-1.71	3.28	3.28	0.37604	.	0.156800	0.41294	U	0.000915	D	0.82296	0.5006	M	0.78049	2.395	0.51482	D	0.999924	P	0.41569	0.755	B	0.39876	0.312	D	0.85414	0.1139	10	0.66056	D	0.02	-28.8359	12.4632	0.55743	0.0:1.0:0.0:0.0	.	896	Q9UPW8	UN13A_HUMAN	I	896;984;896;896;896;894	ENSP00000429562:V896I;ENSP00000400409:V984I;ENSP00000252773:V896I;ENSP00000447236:V896I;ENSP00000447572:V896I;ENSP00000446831:V894I	ENSP00000252773:V896I	V	-	1	0	UNC13A	17612421	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.340000	0.79292	1.842000	0.53543	0.186000	0.17326	GTC		TCGA-IB-7651-01A-11D-2154-08	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1	5	25	0	16	0	3.977273e-02	0	2	0	16	2		0	0	0	0	0	2	1	9.433425e-01	5	25	0	14	2								-11.937590	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.720000	1.000000	1.000000	0.981363	0.990000	1	9.900000e-01	1
UNC13A	23025	broad.mit.edu	37	19	17752235	17752235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17752235C>T	ENST00000519716.2	-	21	2602	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R956H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)			61					GACGCCGTAGCGCATGGCAAA	0.572000																								0							SO:0001583	missense			ENST00000519716.2	1	1	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	21.1	4.097947	0.76870	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84298	-1.81;-1.82;-1.8;-1.67;-1.71;-1.83	3.0	3.0	0.34707	.	0.000000	0.64402	U	0.000005	D	0.91250	0.7242	M	0.82056	2.57	0.44042	D	0.996771	D	0.89917	1.0	D	0.87578	0.998	D	0.91487	0.5209	10	0.54805	T	0.06	-10.0808	11.8562	0.52439	0.0:1.0:0.0:0.0	.	868	Q9UPW8	UN13A_HUMAN	H	868;956;868;868;868;866	ENSP00000429562:R868H;ENSP00000400409:R956H;ENSP00000252773:R868H;ENSP00000447236:R868H;ENSP00000447572:R868H;ENSP00000446831:R866H	ENSP00000252773:R868H	R	-	2	0	UNC13A	17613235	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.467000	0.80930	1.706000	0.51276	0.299000	0.19835	CGC		TCGA-IB-7651-01A-11D-2154-08	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1	49	219	0	60	0	3.459410e-02	0	2	0	60	2		0	0	0	0	0	2	1	1	47	214	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC13A	23025	broad.mit.edu	37	19	17756803	17756803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17756803G>A	ENST00000519716.2	-	18	2161	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000428389.2_Missense_Mutation_p.P809L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)			61					CTCCCACACCGGGTTGAGGTT	0.572000																								0							SO:0001583	missense			ENST00000519716.2	1	1	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214299	0.79352	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	3.85	3.85	0.44370	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.97776	0.9270	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98755	1.0722	10	0.87932	D	0	-19.6225	13.6311	0.62196	0.0:0.0:1.0:0.0	.	721	Q9UPW8	UN13A_HUMAN	L	721;809;721;721;721;719	ENSP00000429562:P721L;ENSP00000400409:P809L;ENSP00000252773:P721L;ENSP00000447236:P721L;ENSP00000447572:P721L;ENSP00000446831:P719L	ENSP00000252773:P721L	P	-	2	0	UNC13A	17617803	1.000000	0.71417	0.969000	0.41365	0.875000	0.50365	9.620000	0.98373	1.874000	0.54306	0.313000	0.20887	CCG		TCGA-IB-7651-01A-11D-2154-08	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1	16	77	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	9.999610e-01	16	77	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999585	0.990000	1	9.900000e-01	1
UNC13A	23025	broad.mit.edu	37	19	17766716	17766716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17766716G>A	ENST00000519716.2	-	10	1258	c.1259C>T	c.(1258-1260)gCt>gTt	p.A420V	UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A508V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)			61					GGGTGGCTCAGCCTCAGGGAT	0.677000																								0							SO:0001583	missense			ENST00000519716.2	1	1	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559814	0.27827	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.42;-1.44;-1.42;-1.29;-1.29;-1.42	4.02	4.02	0.46733	.	0.680491	0.13280	U	0.399808	T	0.67785	0.2930	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.54860	-0.8230	10	0.28530	T	0.3	0.0361	11.6373	0.51211	0.0:0.0:1.0:0.0	.	420	Q9UPW8	UN13A_HUMAN	V	420;508;420;420;420;420	ENSP00000429562:A420V;ENSP00000400409:A508V;ENSP00000252773:A420V;ENSP00000447236:A420V;ENSP00000447572:A420V;ENSP00000446831:A420V	ENSP00000252773:A420V	A	-	2	0	UNC13A	17627716	0.000000	0.05858	0.039000	0.18376	0.019000	0.09904	0.074000	0.14662	1.786000	0.52430	0.491000	0.48974	GCT		TCGA-IB-7651-01A-11D-2154-08	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	1	0	1	20	98	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999964e-01	20	94	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999852	0.990000	1	9.900000e-01	1
MAP1S	55201	broad.mit.edu	37	19	17836832	17836832	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17836832C>T	ENST00000324096.4	+	5	790	c.639C>T	c.(637-639)taC>taT	p.Y213Y	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.Y187Y|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S			25					TCCTGGAGTACGTGGCTGAGT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000324096.4	1	1	hg19	CCDS32954.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	1	0	1	42	111	0	21	1	9.999941e-01	14	40	0	21	2		0	0	0	0	0	2	1	1	41	111	0	18	2								-20.000000	1	1	121348	5	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1S	55201	broad.mit.edu	37	19	17837219	17837219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17837219C>T	ENST00000324096.4	+	5	1177	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.C316C|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S			25					TCAACGCCTGCGAGGCCGCGT	0.731000																								0							SO:0001819	synonymous_variant			ENST00000324096.4	0	1	hg19	CCDS32954.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	0	0	0	17	42	0	10	1	5.610505e-01	3	3	0	10	2		0	0	0	0	0	2	1	9.999865e-01	16	42	0	10	2								-20.000000	1	1	116640	21	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ATP8B3	148229	broad.mit.edu	37	19	1785269	1785269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1785269C>T	ENST00000310127.6	-	27	3659	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1151T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1104T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3			23		Hepatocellular(1079;0.137)			ACGCACAGGGCGGTCCAGTAC	0.602000																								0							SO:0001583	missense			ENST00000310127.6	0	1	hg19	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068881	0.20147	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58797	0.31;0.31;0.31	4.49	-3.01	0.05463	.	0.680336	0.14630	N	0.307895	T	0.28134	0.0694	L	0.33624	1.015	0.09310	N	1	P;P	0.40282	0.659;0.711	B;B	0.27170	0.056;0.077	T	0.26052	-1.0114	10	0.19590	T	0.45	.	2.3471	0.04274	0.2432:0.4546:0.1267:0.1755	.	1141;1104	O60423;Q7Z485	AT8B3_HUMAN;.	T	1141;1151;1104	ENSP00000311336:A1141T;ENSP00000443574:A1151T;ENSP00000437115:A1104T	ENSP00000311336:A1141T	A	-	1	0	ATP8B3	1736269	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.631000	0.05496	-0.019000	0.14055	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	0	0	0	4	91	0	25	0	3.155902e-03	0	2	0	25	2		0	0	0	0	0	2	1	8.868448e-01	4	89	0	23	2								-7.359229	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.570000	0.190000	1.000000	1.000000	0.606221	0.570000	0	3.400000e-01	9.500000e-01
FCHO1	23149	broad.mit.edu	37	19	17873639	17873639	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17873639G>A	ENST00000596536.1	+	5	379	c.96G>A	c.(94-96)gaG>gaA	p.E32E	FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000595033.1_De_novo_Start_InFrame|FCHO1_ENST00000597512.1_Silent_p.E39E|FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000596951.1_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000539407.1_Silent_p.E32E	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1			22					CCACCAAGGAGCTGGCGGACT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000596536.1	1	0	hg19	CCDS32955.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	1	0	1	78	419	0	111	0	2.436911e-01	1	5	0	111	2		0	0	0	0	0	2	1	1	76	410	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCHO1	23149	broad.mit.edu	37	19	17895033	17895033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17895033C>A	ENST00000596536.1	+	25	2498	c.2215C>A	c.(2215-2217)Ctg>Atg	p.L739M	FCHO1_ENST00000594202.1_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M|FCHO1_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1			22					CGTGGTGCTGCTGCGATACCA	0.652000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000596536.1	0	1	hg19	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396748	0.62177	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.54279	0.58;0.58;0.58	4.18	3.12	0.35913	Muniscin C-terminal mu homology domain (1);	0.091658	0.43579	D	0.000558	T	0.62841	0.2461	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.983	T	0.63120	-0.6708	10	0.72032	D	0.01	-14.6395	9.1398	0.36897	0.0:0.8846:0.0:0.1154	.	739;739	O14526;O14526-2	FCHO1_HUMAN;.	M	739	ENSP00000252771:L739M;ENSP00000373785:L739M;ENSP00000437978:L739M	ENSP00000252771:L739M	L	+	1	2	FCHO1	17756033	0.977000	0.34250	0.971000	0.41717	0.934000	0.57294	0.894000	0.28350	0.857000	0.35407	0.313000	0.20887	CTG		TCGA-IB-7651-01A-11D-2154-08	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	0	0	0	29	84	0	18	1	9.999984e-01	24	45	0	18	2		0	0	0	0	0	2	1	1	27	83	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B3GNT3	10331	broad.mit.edu	37	19	17919059	17919059	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17919059G>A	ENST00000318683.6	+	2	590	c.443G>A	c.(442-444)gGc>gAc	p.G148D	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3			21					TTCCTGGTGGGCACAGCCTCC	0.672000																								0							SO:0001583	missense			ENST00000318683.6	1	1	hg19	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253128	0.80135	.	.	ENSG00000179913	ENST00000318683	D	0.83673	-1.75	3.92	3.92	0.45320	.	0.000000	0.85682	U	0.000000	D	0.93598	0.7956	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94776	0.7949	10	0.87932	D	0	.	11.4409	0.50096	0.0:0.0:1.0:0.0	.	148	Q9Y2A9	B3GN3_HUMAN	D	148	ENSP00000321874:G148D	ENSP00000321874:G148D	G	+	2	0	B3GNT3	17780059	1.000000	0.71417	0.967000	0.41034	0.749000	0.42624	9.080000	0.94040	1.733000	0.51620	0.297000	0.19635	GGC		TCGA-IB-7651-01A-11D-2154-08	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	1	0	1	55	239	0	50	1	9.999992e-01	54	40	0	50	2		0	0	0	0	0	2	1	1	53	233	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAK3	3718	broad.mit.edu	37	19	17937567	17937567	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937567G>T	ENST00000527670.1	-	23	3389	c.3360C>A	c.(3358-3360)tcC>tcA	p.S1120S	JAK3_ENST00000458235.1_Silent_p.S1120S			P52333	JAK3_HUMAN	Janus kinase 3			147				Tofacitinib(DB08895)	AAAAGGACAGGGAGTGGTGTT	0.617000		2	Mis		acute megakaryocytic leukemia, ETP ALL										Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0							SO:0001819	synonymous_variant			ENST00000527670.1	1	1	hg19	CCDS12366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1	119	584	0	138	1	9.608659e-01	9	19	0	138	2		0	0	0	0	0	2	1	1	117	574	0	138	2								-2.783843	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAK3	3718	broad.mit.edu	37	19	17937570	17937570	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937570G>A	ENST00000527670.1	-	23	3386	c.3357C>T	c.(3355-3357)caC>caT	p.H1119H	JAK3_ENST00000458235.1_Silent_p.H1119H			P52333	JAK3_HUMAN	Janus kinase 3			147				Tofacitinib(DB08895)	AGGACAGGGAGTGGTGTTTGC	0.617000		2	Mis		acute megakaryocytic leukemia, ETP ALL										Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0							SO:0001819	synonymous_variant			ENST00000527670.1	1	1	hg19	CCDS12366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1	140	552	0	136	1	9.813486e-01	3	24	0	136	2		0	0	0	0	0	2	1	1	139	540	0	136	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAK3	3718	broad.mit.edu	37	19	17943451	17943451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17943451C>T	ENST00000527670.1	-	18	2586	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	JAK3_ENST00000458235.1_Missense_Mutation_p.A853T|JAK3_ENST00000534444.1_Missense_Mutation_p.A853T			P52333	JAK3_HUMAN	Janus kinase 3			147				Tofacitinib(DB08895)	TGTTTCACGGCCACCAGGGCA	0.582000		2	Mis		acute megakaryocytic leukemia, ETP ALL										Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0							SO:0001583	missense			ENST00000527670.1	1	1	hg19	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066950	0.93898	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.95885	-1.38;-1.38;-3.84	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060550	0.64402	D	0.000004	D	0.98124	0.9381	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.74023	0.982;0.92	D	0.98936	1.0789	10	0.87932	D	0	-19.9877	14.7749	0.69724	0.0:1.0:0.0:0.0	.	853;853	P52333-2;P52333	.;JAK3_HUMAN	T	853	ENSP00000391676:A853T;ENSP00000432511:A853T;ENSP00000436421:A853T	ENSP00000391676:A853T	A	-	1	0	JAK3	17804451	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.165000	0.77544	2.433000	0.82419	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1	115	448	1	97	1	9.321818e-01	4	23	1	97	3		0	0	0	0	0	2	1	1	114	439	1	94	20								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAK3	3718	broad.mit.edu	37	19	17945726	17945726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945726C>T	ENST00000527670.1	-	15	2163	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	JAK3_ENST00000458235.1_Missense_Mutation_p.G712S|JAK3_ENST00000534444.1_Missense_Mutation_p.G712S			P52333	JAK3_HUMAN	Janus kinase 3			147				Tofacitinib(DB08895)	ACCGTGGCGCCGAAGCCCCAC	0.622000		2	Mis		acute megakaryocytic leukemia, ETP ALL										Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0							SO:0001583	missense			ENST00000527670.1	1	1	hg19	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983442	0.93044	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.87571	-2.27;-2.27;-2.27	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.78314	0.991;0.871	D	0.96490	0.9363	10	0.87932	D	0	-18.3596	15.5458	0.76097	0.0:1.0:0.0:0.0	.	712;712	P52333-2;P52333	.;JAK3_HUMAN	S	712	ENSP00000391676:G712S;ENSP00000432511:G712S;ENSP00000436421:G712S	ENSP00000391676:G712S	G	-	1	0	JAK3	17806726	1.000000	0.71417	0.918000	0.36340	0.887000	0.51463	7.375000	0.79646	2.255000	0.74692	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1	56	505	0	101	0	5.221378e-01	0	17	0	101	2		0	0	0	0	0	2	1	1	56	498	0	99	2								-2.879461	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.910000	1.000000	1.000000	0.994648	0.990000	1	9.900000e-01	1
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000458235.1_Silent_p.P664P|JAK3_ENST00000534444.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3			147				Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637000		2	Mis		acute megakaryocytic leukemia, ETP ALL										Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0							SO:0001819	synonymous_variant			ENST00000527670.1	1	1	hg19	CCDS12366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1	62	311	0	76	1	9.230689e-01	3	21	0	76	2		0	0	0	0	0	2	1	1	62	306	0	75	2								-3.342667	1	1	121412	6	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAK3	3718	broad.mit.edu	37	19	17946822	17946822	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17946822C>A	ENST00000527670.1	-	13	1854	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	JAK3_ENST00000526008.1_5'Flank|JAK3_ENST00000458235.1_Missense_Mutation_p.D609Y|JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y			P52333	JAK3_HUMAN	Janus kinase 3			147				Tofacitinib(DB08895)	AGATACATGTCTATGGCCCCC	0.582000		2	Mis		acute megakaryocytic leukemia, ETP ALL										Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0							SO:0001583	missense			ENST00000527670.1	1	1	hg19	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852453	0.51270	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.62105	0.05;0.05;0.05	4.96	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.83983	0.0333	10	0.87932	D	0	-38.7413	15.7013	0.77544	0.0:1.0:0.0:0.0	.	609;609	P52333-2;P52333	.;JAK3_HUMAN	Y	609	ENSP00000391676:D609Y;ENSP00000432511:D609Y;ENSP00000436421:D609Y	ENSP00000391676:D609Y	D	-	1	0	JAK3	17807822	1.000000	0.71417	0.721000	0.30653	0.031000	0.12232	7.320000	0.79064	2.294000	0.77228	0.455000	0.32223	GAC		TCGA-IB-7651-01A-11D-2154-08	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1	83	313	0	67	1	9.807051e-01	2	24	0	67	2		0	0	0	0	0	2	1	1	82	312	0	65	2								-3.841257	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP8B3	148229	broad.mit.edu	37	19	1796824	1796824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1796824C>T	ENST00000310127.6	-	16	1877	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A547T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3			23		Hepatocellular(1079;0.137)			AGCAGGGCCGCATTGTGGAAG	0.706000																								0							SO:0001583	missense			ENST00000310127.6	1	1	hg19	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273873	0.23221	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.64085	-0.08;-0.08;-0.08	3.63	-7.26	0.01466	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.801560	0.03175	U	0.171296	T	0.40398	0.1115	L	0.39692	1.235	0.09310	N	1	P;B	0.39352	0.669;0.27	B;B	0.34931	0.192;0.192	T	0.45323	-0.9269	10	0.17832	T	0.49	.	0.5644	0.00684	0.3518:0.1859:0.2576:0.2047	.	547;500	O60423;Q7Z485	AT8B3_HUMAN;.	T	547;547;500	ENSP00000311336:A547T;ENSP00000443574:A547T;ENSP00000437115:A500T	ENSP00000311336:A547T	A	-	1	0	ATP8B3	1747824	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.078000	0.00299	-2.174000	0.00772	-0.258000	0.10820	GCG		TCGA-IB-7651-01A-11D-2154-08	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	1	0	1	39	158	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	37	153	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL18A	6142	broad.mit.edu	37	19	17973031	17973031	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17973031C>A	ENST00000222247.5	+	3	408	c.327C>A	c.(325-327)tgC>tgA	p.C109*	SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000600147.1_Splice_Site_p.C109*|RPL18A_ENST00000599870.1_Splice_Site_p.C80*|RPL18A_ENST00000599898.1_Splice_Site_p.C70*	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a			5					TCACCCAGTGCTGTAAGCTGC	0.607000																								0							SO:0001630	splice_region_variant			ENST00000222247.5	0	0	hg19	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411930	0.62511	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.18	3.14	0.36123	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9737	0.41770	0.0:0.8976:0.0:0.1024	.	.	.	.	X	109	.	ENSP00000222247:C109X	C	+	3	2	RPL18A	17834031	1.000000	0.71417	0.994000	0.49952	0.247000	0.25773	4.786000	0.62425	0.897000	0.36392	0.557000	0.71058	TGC		TCGA-IB-7651-01A-11D-2154-08	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	1	0	1	86	527	0	118	1	1	172	4921	0	118	2		0	0	0	0	0	2	1	1	81	512	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A5	6528	broad.mit.edu	37	19	17988625	17988625	+	Silent	SNP	G	G	A	rs148887708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988625G>A	ENST00000222248.3	+	6	1139	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5			31					TGAACCAGGCGCAGGTGCAGC	0.607000													Melanoma(65;1008 1708 7910 46650)											0							SO:0001819	synonymous_variant			ENST00000222248.3	1	1	hg19	CCDS12368.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1	1	0	1	101	455	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	97	451	0	80	2								-3.975781	1	1	121412	27	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A5	6528	broad.mit.edu	37	19	17988836	17988836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988836C>T	ENST00000222248.3	+	7	1250	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5			31					GCTGTGGCATCGTCATGTTTG	0.627000													Melanoma(65;1008 1708 7910 46650)											0							SO:0001819	synonymous_variant			ENST00000222248.3	1	1	hg19	CCDS12368.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1	1	0	0	28	254	0	57	0	0	1	0	0	57	2		0	0	0	0	0	2	1	1	28	249	0	56	2								-20.000000	1	1	121412	2	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.810000	1.000000	1.000000	0.983883	0.990000	1	9.900000e-01	1
CCDC124	115098	broad.mit.edu	37	19	18054174	18054174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18054174G>A	ENST00000597436.1	+	4	561	c.454G>A	c.(454-456)Gca>Aca	p.A152T	CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124			3					GGACGCCATTGCAGTGCTCAG	0.701000																								0							SO:0001583	missense			ENST00000597436.1	0	1	hg19	CCDS12369.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146717	0.37923	.	.	ENSG00000007080	ENST00000445755	T	0.47177	0.85	4.72	3.68	0.42216	.	0.056223	0.64402	D	0.000001	T	0.43299	0.1241	M	0.75884	2.315	0.80722	D	1	B	0.31256	0.316	B	0.29942	0.109	T	0.25328	-1.0135	10	0.11794	T	0.64	-7.0596	10.5857	0.45282	0.0972:0.0:0.9028:0.0	.	152	Q96CT7	CC124_HUMAN	T	152	ENSP00000408730:A152T	ENSP00000408730:A152T	A	+	1	0	CCDC124	17915174	1.000000	0.71417	0.805000	0.32314	0.197000	0.23852	3.995000	0.57001	0.963000	0.38082	0.491000	0.48974	GCA		TCGA-IB-7651-01A-11D-2154-08	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	1	0	0	7	35	0	8	1	9.999995e-01	99	177	0	8	2		0	0	0	0	0	2	1	9.823183e-01	7	34	0	8	2								-14.941180	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.991065	0.990000	1	9.900000e-01	1
ATP8B3	148229	broad.mit.edu	37	19	1805955	1805955	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1805955G>A	ENST00000310127.6	-	9	991	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ATP8B3_ENST00000526092.2_Silent_p.A198A|ATP8B3_ENST00000539485.1_Silent_p.A251A|ATP8B3_ENST00000525591.1_Silent_p.A198A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3			23		Hepatocellular(1079;0.137)			AGAGCATGTCGGCCTGGTGTG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000310127.6	1	1	hg19	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	g	0.596	-0.830887	0.02713	.	.	ENSG00000130270	ENST00000533993	.	.	.	3.75	-3.8	0.04307	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	.	1.676	0.02822	0.3007:0.1065:0.3783:0.2145	.	.	.	.	L	214	.	.	P	-	2	0	ATP8B3	1756955	0.000000	0.05858	0.869000	0.34112	0.153000	0.21895	-2.113000	0.01331	-0.804000	0.04410	-1.644000	0.00765	CCG		TCGA-IB-7651-01A-11D-2154-08	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	1	0	1	30	195	0	42	1	5.411423e-01	5	8	0	42	2		0	0	0	0	0	2	1	1	30	193	0	42	2								-14.892030	1	1	120760	2	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999608	0.990000	1	9.900000e-01	1
KCNN1	3780	broad.mit.edu	37	19	18092875	18092875	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18092875C>A	ENST00000222249.9	+	5	1175	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1			8				Miconazole(DB01110)|Procaine(DB00721)	CGGCACCGTGCTGCTGGTCTT	0.667000																								0							SO:0001583	missense			ENST00000222249.9	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.71	3.681795	0.68042	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.11	2.88	0.33553	.	0.000000	0.64402	D	0.000007	T	0.78648	0.4316	M	0.88704	2.975	0.46203	D	0.998929	D	0.89917	1.0	D	0.80764	0.994	T	0.79831	-0.1637	9	0.87932	D	0	-15.4501	8.0594	0.30625	0.0:0.7347:0.0:0.2653	.	286	Q92952	KCNN1_HUMAN	M	303;286	.	ENSP00000222249:L303M	L	+	1	2	KCNN1	17953875	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	3.218000	0.51192	1.117000	0.41842	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	1	0	0	12	35	0	19	1	1.791597e-01	2	1	0	19	2		0	0	0	0	0	2	1	9.992880e-01	11	33	0	19	2								-2.990370	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999830	0.990000	1	9.900000e-01	1
ARRDC2	27106	broad.mit.edu	37	19	18119532	18119532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18119532C>T	ENST00000222250.4	+	2	430	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Missense_Mutation_p.T91I	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2			12					ACCGGGGAGACCACGACGCTG	0.657000																								0							SO:0001583	missense			ENST00000222250.4	1	1	hg19	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	C	6.628	0.484246	0.12641	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.13901	3.38;2.55	4.38	0.983	0.19767	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.742565	0.13154	N	0.409615	T	0.06781	0.0173	N	0.12637	0.245	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42413	-0.9453	10	0.20046	T	0.44	-1.567	8.174	0.31270	0.0:0.5569:0.0:0.4431	.	96;91	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	I	91;96	ENSP00000368977:T91I;ENSP00000222250:T96I	ENSP00000222250:T96I	T	+	2	0	ARRDC2	17980532	0.001000	0.12720	0.003000	0.11579	0.550000	0.35303	0.229000	0.17833	0.080000	0.16959	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	1	0	1	77	438	0	89	1	1	18	127	0	89	2		0	0	0	0	0	2	1	1	76	432	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL12RB1	3594	broad.mit.edu	37	19	18187135	18187135	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18187135G>A	ENST00000600835.2	-	7	850	c.552C>T	c.(550-552)ggC>ggT	p.G184G	IL12RB1_ENST00000593993.2_Silent_p.G184G|IL12RB1_ENST00000322153.7_Silent_p.G184G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	p.G184G(3)		8					GTCCGCAGTCGCCCTAGAATA	0.333000																								3	Substitution - coding silent(3)						SO:0001819	synonymous_variant			ENST00000600835.2	0	1	hg19	CCDS54232.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3	0	0	0	8	199	1	41	0	3.215881e-02	0	26	1	41	4		0	0	0	0	0	2	1	9.893700e-01	8	197	0	41	2								-3.164825	1	1	121410	7	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.490000	0.220000	1.000000	0.450000	0.539579	0.490000	0	3.400000e-01	7.300000e-01
REXO1	57455	broad.mit.edu	37	19	1819095	1819095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1819095C>T	ENST00000170168.4	-	8	2780	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	CTB-31O20.4_ENST00000593201.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)			16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)			CCCCCCAACACCACCTCGTGG	0.667000																								0							SO:0001583	missense			ENST00000170168.4	1	1	hg19	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955945	0.73902	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.16597	2.33	3.98	2.91	0.33838	.	0.000000	0.64402	U	0.000001	T	0.26231	0.0640	L	0.53249	1.67	0.52501	D	0.999958	P;P	0.51057	0.941;0.874	B;P	0.53146	0.374;0.719	T	0.02150	-1.1205	10	0.72032	D	0.01	-18.672	10.5817	0.45259	0.1932:0.8068:0.0:0.0	.	205;896	B4DWY3;Q8N1G1	.;REXO1_HUMAN	M	896;168	ENSP00000170168:V896M	ENSP00000170168:V896M	V	-	1	0	REXO1	1770095	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.543000	0.60684	0.992000	0.38840	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	1	0	1	44	182	0	48	1	9.999997e-01	32	68	0	48	2		0	0	0	0	0	2	1	1	44	175	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REXO1	57455	broad.mit.edu	37	19	1820033	1820033	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1820033G>T	ENST00000170168.4	-	7	2644	c.2550C>A	c.(2548-2550)gcC>gcA	p.A850A	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)			16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)			TGCGGTCATAGGCCACCTTCT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000170168.4	1	1	hg19	CCDS32866.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	1	0	0	13	244	0	41	1	9.217007e-01	5	80	0	41	2		0	0	0	0	0	2	1	9.995490e-01	13	242	0	41	2								-15.172500	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.620000	0.340000	1.000000	0.600000	0.658111	0.620000	0	4.700000e-01	8.600000e-01
MAST3	23031	broad.mit.edu	37	19	18239701	18239701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18239701G>A	ENST00000262811.6	+	12	1076	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3			31					GGCCAGTCACGGAGGAAGCCA	0.597000																								0							SO:0001583	missense			ENST00000262811.6	1	1	hg19	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102796	0.56183	.	.	ENSG00000099308	ENST00000262811	T	0.68479	-0.33	5.27	5.27	0.74061	.	0.236652	0.40818	N	0.001014	T	0.43389	0.1245	N	0.08118	0	0.49483	D	0.999798	B	0.34329	0.449	B	0.20767	0.031	T	0.44128	-0.9348	10	0.18276	T	0.48	-20.9685	17.8957	0.88887	0.0:0.0:1.0:0.0	.	359	O60307	MAST3_HUMAN	Q	359	ENSP00000262811:R359Q	ENSP00000262811:R359Q	R	+	2	0	MAST3	18100701	1.000000	0.71417	0.980000	0.43619	0.910000	0.53928	7.891000	0.87319	2.460000	0.83146	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	1	0	1	62	305	0	92	1	9.773341e-01	7	25	0	92	2		0	0	0	0	0	2	1	1	60	304	0	89	2								-2.839281	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAST3	23031	broad.mit.edu	37	19	18245404	18245404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18245404G>A	ENST00000262811.6	+	15	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3			31					TCATCACCTCGCTTGGCCACA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000262811.6	1	1	hg19	CCDS46014.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	1	0	1	23	66	0	17	1	9.854559e-01	6	17	0	17	2		0	0	0	0	0	2	1	9.999998e-01	23	64	0	16	2								-18.925640	1	1	121264	2	27	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MAST3	23031	broad.mit.edu	37	19	18249831	18249831	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249831C>T	ENST00000262811.6	+	19	2015	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3			31					ACAGCACGTTCGGAACGTTAC	0.597000																								0							SO:0001583	missense			ENST00000262811.6	0	1	hg19	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363653	0.61513	.	.	ENSG00000099308	ENST00000262811	T	0.23754	1.89	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.33904	0.0879	M	0.79693	2.465	0.58432	D	0.999999	B	0.10296	0.003	B	0.12837	0.008	T	0.35574	-0.9783	10	0.56958	D	0.05	-12.0036	14.9224	0.70851	0.0:1.0:0.0:0.0	.	672	O60307	MAST3_HUMAN	L	672	ENSP00000262811:S672L	ENSP00000262811:S672L	S	+	2	0	MAST3	18110831	1.000000	0.71417	0.533000	0.28001	0.029000	0.11900	7.713000	0.84693	1.941000	0.56285	0.313000	0.20887	TCG		TCGA-IB-7651-01A-11D-2154-08	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	0	0	1	4	36	0	16	1	8.422327e-01	17	16	0	16	2		0	0	0	0	0	2	1	8.813743e-01	4	34	0	15	2								-9.594652	1	0	120878	1	22	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.430000	1.000000	1.000000	0.914553	0.990000	1	7.500000e-01	1
MAST3	23031	broad.mit.edu	37	19	18249857	18249857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249857G>A	ENST00000262811.6	+	19	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3			31					TCTGGGCTCCGAGGACGACGA	0.617000																								0							SO:0001583	missense			ENST00000262811.6	0	1	hg19	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883681	0.72410	.	.	ENSG00000099308	ENST00000262811	T	0.24350	1.86	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.061031	0.64402	D	0.000005	T	0.45155	0.1328	M	0.83012	2.62	0.80722	D	1	D	0.53151	0.958	P	0.53760	0.734	T	0.51371	-0.8714	10	0.38643	T	0.18	-26.804	14.9224	0.70851	0.0:0.0:1.0:0.0	.	681	O60307	MAST3_HUMAN	K	681	ENSP00000262811:E681K	ENSP00000262811:E681K	E	+	1	0	MAST3	18110857	1.000000	0.71417	0.776000	0.31678	0.139000	0.21198	7.882000	0.87258	1.941000	0.56285	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	1	0	1	6	38	0	16	1	9.468428e-01	9	28	0	16	2		0	0	0	0	0	2	1	9.636939e-01	6	36	0	16	2								-12.489220	1	0	120938	1	24	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.680000	1.000000	1.000000	0.975969	0.990000	1	9.900000e-01	1
MAST3	23031	broad.mit.edu	37	19	18252741	18252741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18252741C>A	ENST00000262811.6	+	20	2168	c.2168C>A	c.(2167-2169)gCt>gAt	p.A723D	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3			31					CCTACCTTCGCTGAAAGGAGC	0.617000																								0							SO:0001583	missense			ENST00000262811.6	0	1	hg19	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597667	0.46318	.	.	ENSG00000099308	ENST00000262811	T	0.67345	-0.26	4.88	4.88	0.63580	Protein kinase-like domain (1);	0.206159	0.41823	D	0.000806	T	0.52517	0.1739	L	0.29908	0.895	0.45852	D	0.998719	B	0.23377	0.084	B	0.19148	0.024	T	0.48559	-0.9025	10	0.13108	T	0.6	-6.6205	15.1669	0.72837	0.0:1.0:0.0:0.0	.	723	O60307	MAST3_HUMAN	D	723	ENSP00000262811:A723D	ENSP00000262811:A723D	A	+	2	0	MAST3	18113741	0.978000	0.34361	0.455000	0.27031	0.849000	0.48306	6.888000	0.75622	2.270000	0.75569	0.511000	0.50034	GCT		TCGA-IB-7651-01A-11D-2154-08	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	0	0	0	13	49	0	11	1	9.612715e-01	10	14	0	11	2		0	0	0	0	0	2	1	9.996627e-01	13	47	0	10	2								-19.999990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999695	0.990000	1	9.900000e-01	1
PIK3R2	5296	broad.mit.edu	37	19	18273018	18273018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18273018C>T	ENST00000593731.1	+	8	1468	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.P303L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)			24				Isoprenaline(DB01064)	CCAGCGCTGCCGCCTAAACCC	0.617000																								0							SO:0001583	missense			ENST00000593731.1	1	1	hg19	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437493	0.83885	.	.	ENSG00000105647	ENST00000222254	T	0.52057	0.68	4.16	4.16	0.48862	.	0.114304	0.64402	D	0.000010	T	0.70002	0.3174	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76402	-0.2972	10	0.87932	D	0	-12.1593	15.8108	0.78561	0.0:1.0:0.0:0.0	.	303	O00459	P85B_HUMAN	L	303	ENSP00000222254:P303L	ENSP00000222254:P303L	P	+	2	0	PIK3R2	18134018	1.000000	0.71417	0.933000	0.37362	0.752000	0.42762	7.627000	0.83176	2.054000	0.61138	0.491000	0.48974	CCG		TCGA-IB-7651-01A-11D-2154-08	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	1	0	1	18	117	0	28	1	9.997048e-01	27	65	0	28	2		0	0	0	0	0	2	1	9.999875e-01	17	117	0	28	2								-20.000000	1	1	121330	1	24	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.980000	1.000000	1.000000	0.997571	0.990000	1	9.900000e-01	1
PIK3R2	5296	broad.mit.edu	37	19	18279918	18279918	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18279918C>A	ENST00000593731.1	+	16	2561	c.2001C>A	c.(1999-2001)caC>caA	p.H667Q	PIK3R2_ENST00000222254.8_Missense_Mutation_p.H667Q			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)			24				Isoprenaline(DB01064)	ACACCAAGCACTGCGTCATCT	0.682000																								0							SO:0001583	missense			ENST00000593731.1	1	1	hg19	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627696	0.87560	.	.	ENSG00000105647	ENST00000222254	D	0.91792	-2.91	4.12	4.12	0.48240	SH2 motif (4);	0.054146	0.64402	D	0.000001	D	0.97514	0.9186	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99066	1.0832	10	0.87932	D	0	-33.9436	16.2136	0.82186	0.0:1.0:0.0:0.0	.	667	O00459	P85B_HUMAN	Q	667	ENSP00000222254:H667Q	ENSP00000222254:H667Q	H	+	3	2	PIK3R2	18140918	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.738000	0.62073	2.251000	0.74343	0.448000	0.29417	CAC		TCGA-IB-7651-01A-11D-2154-08	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	1	0	1	27	293	0	62	1	9.994771e-01	17	112	0	62	2		0	0	0	0	0	2	1	1	27	288	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.680000	1.000000	1.000000	0.940785	0.990000	1	8.300000e-01	1
IFI30	10437	broad.mit.edu	37	19	18285994	18285994	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18285994A>T	ENST00000407280.3	+	2	452	c.277A>T	c.(277-279)Atc>Ttc	p.I93F	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30			5					GGTCATGGAGATCCTCAATGT	0.607000																								0							SO:0001583	missense			ENST00000407280.3	0	1	hg19	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136738	0.56936	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.95	3.92	0.45320	.	.	.	.	.	T	0.65933	0.2739	L	0.47078	1.49	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.64871	-0.6305	8	0.44086	T	0.13	-1.1563	10.1999	0.43077	0.9147:0.0:0.0853:0.0	.	93	P13284	GILT_HUMAN	F	93	.	ENSP00000384886:I93F	I	+	1	0	IFI30	18146994	0.998000	0.40836	0.980000	0.43619	0.077000	0.17291	3.633000	0.54295	1.996000	0.58369	0.402000	0.26972	ATC		TCGA-IB-7651-01A-11D-2154-08	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	0	0	0	10	45	0	15	1	1	166	3365	0	15	2		0	0	0	0	0	2	1	9.975552e-01	10	44	0	15	2								-19.489840	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997875	0.990000	1	9.900000e-01	1
MPV17L2	84769	broad.mit.edu	37	19	18305800	18305800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305800C>T	ENST00000599612.2	+	4	568	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2			4					CTGCGCAGTTCGTGAACTTCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000599612.2	1	1	hg19	CCDS42522.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	1	0	0	66	332	0	122	1	9.999998e-01	24	90	0	122	2		0	0	0	0	0	2	1	1	66	330	0	119	2								-20.000000	1	0	120996	2	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPV17L2	84769	broad.mit.edu	37	19	18305857	18305857	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305857G>A	ENST00000599612.2	+	4	625	c.525G>A	c.(523-525)acG>acA	p.T175T		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2			4					ACGGCCTGACGCTGGGCTGGG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000599612.2	1	1	hg19	CCDS42522.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	1	0	1	101	408	0	137	1	1	33	114	0	137	2		0	0	0	0	0	2	1	1	101	401	0	136	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB3A	5864	broad.mit.edu	37	19	18311216	18311216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18311216C>T	ENST00000222256.4	-	3	446	c.268G>A	c.(268-270)Gca>Aca	p.A90T	RAB3A_ENST00000464076.3_5'UTR	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family			8					CGGTAGTATGCGGTGGTGATG	0.552000																								0							SO:0001583	missense			ENST00000222256.4	1	1	hg19	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193455	0.78902	.	.	ENSG00000105649	ENST00000222256	T	0.80123	-1.34	5.0	5.0	0.66597	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85609	0.1257	10	0.87932	D	0	-34.8519	15.7492	0.77969	0.0:1.0:0.0:0.0	.	90	P20336	RAB3A_HUMAN	T	90	ENSP00000222256:A90T	ENSP00000222256:A90T	A	-	1	0	RAB3A	18172216	1.000000	0.71417	0.977000	0.42913	0.123000	0.20343	7.679000	0.84048	2.309000	0.77851	0.491000	0.48974	GCA		TCGA-IB-7651-01A-11D-2154-08	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	1	0	1	70	350	0	107	1	8.663920e-01	3	17	0	107	2		0	0	0	0	0	2	1	1	70	336	0	107	2								-3.037852	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE4C	5143	broad.mit.edu	37	19	18332977	18332977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18332977C>A	ENST00000355502.3	-	6	1270	c.399G>T	c.(397-399)aaG>aaT	p.K133N	PDE4C_ENST00000262805.12_Missense_Mutation_p.K101N|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000447275.3_Missense_Mutation_p.K27N|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.K133N|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000594465.3_Missense_Mutation_p.K133N|PDE4C_ENST00000539010.1_5'Flank			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific			33				Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GAGACATGGCCTTGGGCGAGA	0.617000																								0							SO:0001583	missense			ENST00000355502.3	1	1	hg19	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326528	0.41197	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.75938	0.92;-0.98;-0.87	4.35	1.02	0.19986	.	3.522130	0.02252	U	0.066744	T	0.78941	0.4363	M	0.68593	2.085	0.80722	D	1	P;P;B	0.49696	0.563;0.927;0.24	B;P;B	0.49999	0.175;0.628;0.192	T	0.66842	-0.5821	10	0.87932	D	0	.	6.1161	0.20127	0.0:0.5024:0.0:0.4976	.	242;133;101	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	N	212;133;121;101;27;242	ENSP00000347689:K133N;ENSP00000262805:K101N;ENSP00000402091:K27N	ENSP00000262805:K101N	K	-	3	2	PDE4C	18193977	0.096000	0.21769	0.926000	0.36857	0.649000	0.38597	0.483000	0.22292	0.314000	0.23086	0.306000	0.20318	AAG		TCGA-IB-7651-01A-11D-2154-08	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1	1	0	1	44	183	0	46	1	7.846101e-01	6	8	0	46	2		0	0	0	0	0	2	1	1	43	180	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1683	80726	broad.mit.edu	37	19	18368859	18368859	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18368859C>A	ENST00000600328.3	-	4	2867	c.2674G>T	c.(2674-2676)Gcc>Tcc	p.A892S	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A846S|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1079S|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683			37					GCACCCCTGGCTGGCTCCCAT	0.652000																								0							SO:0001583	missense			ENST00000600328.3	1	1	hg19	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	6.720	0.501628	0.12822	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.03330	4.13;4.05;3.97	2.8	-0.878	0.10617	.	0.495017	0.15187	N	0.275781	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B;B	0.29862	0.021;0.259	B;B	0.22386	0.014;0.039	T	0.48514	-0.9029	10	0.12766	T	0.61	-0.5975	4.5036	0.11876	0.0:0.3912:0.459:0.1498	.	1079;892	E9PDE0;Q9H0B3	.;K1683_HUMAN	S	1079;892;846;156;506	ENSP00000376213:A1079S;ENSP00000352774:A892S;ENSP00000404501:A846S	ENSP00000352774:A892S	A	-	1	0	KIAA1683	18229859	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.039000	0.12124	-0.084000	0.12595	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3	0	0	0	30	797	0	144	0	8.199284e-03	1	3	0	144	2		0	0	0	0	0	2	1	1	30	786	0	141	2								-3.674067	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.440000	0.290000	1.000000	0.430000	0.486391	0.440000	0	3.600000e-01	5.500000e-01
JUND	3727	broad.mit.edu	37	19	18391375	18391375	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18391375T>C	ENST00000252818.3	-	1	1057	c.920A>G	c.(919-921)aAc>aGc	p.N307S	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene			3					CAGCTCCGTGTTCTGACTCTT	0.652000																								0							SO:0001583	missense			ENST00000252818.3	1	1	hg19	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	19.21	3.784443	0.70222	.	.	ENSG00000130522	ENST00000252818	T	0.71579	-0.58	3.2	3.2	0.36748	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.81216	0.4776	M	0.76433	2.335	0.54753	D	0.999989	D	0.76494	0.999	D	0.85130	0.997	T	0.82484	-0.0434	10	0.87932	D	0	.	9.7586	0.40519	0.0:0.0:0.0:1.0	.	307	P17535	JUND_HUMAN	S	307	ENSP00000252818:N307S	ENSP00000252818:N307S	N	-	2	0	JUND	18252375	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	7.192000	0.77771	1.465000	0.48006	0.375000	0.23000	AAC		TCGA-IB-7651-01A-11D-2154-08	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	1	0	0	36	124	0	36	1	1	66	233	0	36	2		0	0	0	0	0	2	1	1	36	122	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LSM4	25804	broad.mit.edu	37	19	18420644	18420644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18420644C>T	ENST00000593829.1	-	4	425	c.172G>A	c.(172-174)Gag>Aag	p.E58K	LSM4_ENST00000252816.6_Missense_Mutation_p.E44K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	p.E58K(1)		6					ATGTAGCACTCGGGCATCCGC	0.667000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000593829.1	1	1	hg19	CCDS12374.1	.	.	.	.	.	.	.	.	.	.	c	32	5.117333	0.94385	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.47	4.47	0.54385	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.82433	2.59	0.80722	D	1	P	0.47302	0.893	P	0.47376	0.545	T	0.79562	-0.1752	9	0.87932	D	0	9.9037	16.5142	0.84295	0.0:1.0:0.0:0.0	.	58	Q9Y4Z0	LSM4_HUMAN	K	58	.	ENSP00000252816:E58K	E	-	1	0	LSM4	18281644	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.353000	0.66034	2.211000	0.71520	0.457000	0.33378	GAG		TCGA-IB-7651-01A-11D-2154-08	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1	1	0	1	32	158	0	42	1	1	189	290	0	42	2		0	0	0	0	0	2	1	1	31	157	0	42	2								-3.088777	1	1	121410	1	27	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
LRRC25	126364	broad.mit.edu	37	19	18507051	18507051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507051G>A	ENST00000339007.3	-	1	1376	c.723C>T	c.(721-723)gaC>gaT	p.D241D	LRRC25_ENST00000595840.1_Silent_p.D241D	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25			8					TGTTCTCATAGTCGGGAGTGG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000339007.3	1	1	hg19	CCDS12377.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	1	0	0	93	420	0	84	0	9.975744e-01	0	43	0	84	2		0	0	0	0	0	2	1	1	91	408	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC25	126364	broad.mit.edu	37	19	18507290	18507290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507290C>T	ENST00000339007.3	-	1	1137	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25			8					GTTGCAGAGGCCAGGCCAGGG	0.637000																								0							SO:0001583	missense			ENST00000339007.3	1	1	hg19	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016135	0.19355	.	.	ENSG00000175489	ENST00000339007	T	0.33216	1.42	3.76	-7.52	0.01341	.	2.386640	0.02216	N	0.063617	T	0.20007	0.0481	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.10268	-1.0637	10	0.36615	T	0.2	-0.4435	1.8738	0.03214	0.4333:0.3128:0.0959:0.158	.	162	Q8N386	LRC25_HUMAN	T	162	ENSP00000340983:A162T	ENSP00000340983:A162T	A	-	1	0	LRRC25	18368290	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.526000	0.00441	-3.308000	0.00191	-0.500000	0.04577	GCC		TCGA-IB-7651-01A-11D-2154-08	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	1	0	1	55	197	0	53	0	9.936949e-01	0	31	0	53	2		0	0	0	0	0	2	1	1	55	195	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSBP4	170463	broad.mit.edu	37	19	18538218	18538218	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18538218G>A	ENST00000270061.7	+	2	411	c.117G>A	c.(115-117)caG>caA	p.Q39Q	SSBP4_ENST00000348495.6_Silent_p.Q39Q|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4			4					AGTCAGCCCAGACCTTCCTGT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000270061.7	1	1	hg19	CCDS12378.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	1	0	1	33	118	0	24	1	1	28	117	0	24	2		0	0	0	0	0	2	1	1	31	115	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSBP4	170463	broad.mit.edu	37	19	18541673	18541673	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18541673C>A	ENST00000270061.7	+	5	596	c.302C>A	c.(301-303)cCc>cAc	p.P101H	SSBP4_ENST00000348495.6_Missense_Mutation_p.P101H|SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000599699.2_5'Flank	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4			4					GCCCCCAGCCCCGTTATGGGG	0.662000																								0							SO:0001583	missense			ENST00000270061.7	1	1	hg19	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299588	0.40694	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	2.8	2.8	0.32819	.	0.000000	0.64402	U	0.000002	T	0.74951	0.3784	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76022	-0.3111	9	0.54805	T	0.06	-2.5338	9.7153	0.40270	0.0:1.0:0.0:0.0	.	101;101	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	H	101	.	ENSP00000270061:P101H	P	+	2	0	SSBP4	18402673	0.998000	0.40836	0.656000	0.29637	0.081000	0.17604	4.604000	0.61112	1.523000	0.49018	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	1	0	1	32	161	0	47	1	9.999999e-01	27	117	0	47	2		0	0	0	0	0	2	1	1	31	158	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
ISYNA1	51477	broad.mit.edu	37	19	18547207	18547207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18547207G>A	ENST00000338128.8	-	6	909	c.692C>T	c.(691-693)aCg>aTg	p.T231M	ISYNA1_ENST00000457269.4_Missense_Mutation_p.T177M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000545187.1_Missense_Mutation_p.T81M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1			12					GAAGCGCTCCGTGTTCGCCGT	0.627000																								0							SO:0001583	missense			ENST00000338128.8	1	1	hg19	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980764	0.18812	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	3.88	2.83	0.33086	NAD(P)-binding domain (1);	0.060310	0.64402	N	0.000005	D	0.86826	0.6026	H	0.98388	4.22	0.48975	D	0.999736	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.87914	0.2699	9	0.87932	D	0	-22.5749	9.041	0.36319	0.1123:0.0:0.8877:0.0	.	29;177;231;81	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	M	231;177;81;29	.	ENSP00000315147:T29M	T	-	2	0	ISYNA1	18408207	1.000000	0.71417	0.573000	0.28510	0.227000	0.25037	5.807000	0.69157	0.970000	0.38263	0.457000	0.33378	ACG		TCGA-IB-7651-01A-11D-2154-08	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	0	0	1	97	421	0	94	1	9.999872e-01	9	63	0	94	2		0	0	0	0	0	2	1	1	97	414	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELL	8178	broad.mit.edu	37	19	18556055	18556055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18556055C>A	ENST00000262809.4	-	11	1799	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	ELL_ENST00000596124.3_Missense_Mutation_p.Q443H|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II			19					TTCGATATTCCTGCAAAATCT	0.512000			T	MLL	AL										Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0							SO:0001583	missense			ENST00000262809.4	1	1	hg19	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709318	0.48517	.	.	ENSG00000105656	ENST00000262809	T	0.22945	1.93	3.79	2.74	0.32292	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.154328	0.44285	U	0.000462	T	0.44244	0.1284	M	0.65498	2.005	0.45946	D	0.998776	D;D	0.76494	0.997;0.999	D;D	0.72982	0.968;0.979	T	0.37572	-0.9700	10	0.72032	D	0.01	-23.2441	9.261	0.37612	0.0:0.8105:0.0:0.1895	.	520;576	Q59HG4;P55199	.;ELL_HUMAN	H	576	ENSP00000262809:Q576H	ENSP00000262809:Q576H	Q	-	3	2	ELL	18417055	1.000000	0.71417	0.983000	0.44433	0.783000	0.44284	0.592000	0.23984	0.952000	0.37798	0.282000	0.19409	CAG		TCGA-IB-7651-01A-11D-2154-08	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	1	0	1	290	1387	0	378	1	9.999605e-01	11	58	0	378	2		0	0	0	0	0	2	1	1	286	1354	0	376	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FKBP8	23770	broad.mit.edu	37	19	18648447	18648447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18648447C>T	ENST00000596558.2	-	6	1015	c.906G>A	c.(904-906)caG>caA	p.Q302Q	FKBP8_ENST00000222308.4_Silent_p.Q302Q|FKBP8_ENST00000453489.2_Silent_p.Q331Q|FKBP8_ENST00000608443.1_Silent_p.Q303Q|FKBP8_ENST00000610101.1_Silent_p.Q143Q|FKBP8_ENST00000597960.3_Silent_p.Q303Q|AC005387.2_ENST00000596596.1_RNA			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa			15					TGTTGTCTGGCTGGTGCTCCA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000596558.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	1	0	0	20	228	0	42	1	1	123	908	0	42	2		0	0	0	0	0	2	1	9.999955e-01	19	225	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.980000	0.610000	1.000000	1.000000	0.914617	0.980000	1	7.800000e-01	1
CRLF1	9244	broad.mit.edu	37	19	18710412	18710412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710412G>A	ENST00000392386.3	-	2	553	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1			9					GGATGCTGCCGTCACGGGCGT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000392386.3	1	1	hg19	CCDS32962.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1	1	0	0	67	219	0	45	0	9.132668e-01	0	16	0	45	2		0	0	0	0	0	2	1	1	65	212	0	44	2								-20.000000	1	0	121392	4	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRLF1	9244	broad.mit.edu	37	19	18710420	18710420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710420C>T	ENST00000392386.3	-	2	545	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1			9					CCGTCACGGGCGTGGCACACG	0.657000																								0							SO:0001583	missense			ENST00000392386.3	1	1	hg19	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459657	0.43736	.	.	ENSG00000006016	ENST00000392386	D	0.85629	-2.01	5.23	4.2	0.49525	Immunoglobulin-like fold (1);	0.227351	0.45126	D	0.000381	T	0.67135	0.2861	N	0.14661	0.345	0.29291	N	0.869344	P	0.35226	0.491	B	0.25405	0.06	T	0.62263	-0.6891	10	0.23302	T	0.38	-32.249	9.2979	0.37827	0.0:0.8439:0.0:0.1561	.	118	O75462	CRLF1_HUMAN	T	118	ENSP00000376188:A118T	ENSP00000376188:A118T	A	-	1	0	CRLF1	18571420	0.865000	0.29922	0.862000	0.33874	0.611000	0.37282	1.167000	0.31847	2.449000	0.82847	0.511000	0.50034	GCC		TCGA-IB-7651-01A-11D-2154-08	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1	1	0	1	56	213	0	48	0	8.930550e-01	0	17	0	48	2		0	0	0	0	0	2	1	1	52	208	0	47	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM59L	25789	broad.mit.edu	37	19	18724721	18724721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724721G>A	ENST00000600490.1	+	3	396	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like			13					CTATGACAGAGCCGTTCTGAT	0.662000																								0							SO:0001583	missense			ENST00000600490.1	1	1	hg19	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377042	0.61735	.	.	ENSG00000105696	ENST00000262817	T	0.46451	0.87	4.14	4.14	0.48551	.	0.124651	0.56097	D	0.000022	T	0.48095	0.1481	L	0.54323	1.7	0.29756	N	0.835919	D	0.63880	0.993	P	0.55508	0.777	T	0.48387	-0.9040	10	0.48119	T	0.1	-21.1015	8.338	0.32225	0.1127:0.0:0.8873:0.0	.	71	Q9UK28	TM59L_HUMAN	T	71	ENSP00000262817:A71T	ENSP00000262817:A71T	A	+	1	0	TMEM59L	18585721	0.608000	0.26966	0.124000	0.21820	0.030000	0.12068	2.480000	0.45206	1.997000	0.58415	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2	1	0	0	93	466	0	85	0	2.802360e-02	0	2	0	85	2		0	0	0	0	0	2	1	1	92	463	0	84	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM59L	25789	broad.mit.edu	37	19	18731268	18731268	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18731268C>A	ENST00000600490.1	+	9	1136	c.951C>A	c.(949-951)ccC>ccA	p.P317P	TMEM59L_ENST00000262817.3_Silent_p.P317P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like			13					CCGATTGGCCCCTGTACCCGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000600490.1	1	1	hg19	CCDS12383.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2	0	0	0	12	435	0	86	0	5.520606e-02	0	13	0	86	2		0	0	0	0	0	2	1	9.989567e-01	12	421	0	85	2								-3.350320	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.330000	0.170000	1.000000	0.320000	0.393353	0.330000	0	2.400000e-01	4.700000e-01
KLHL26	55295	broad.mit.edu	37	19	18778902	18778902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18778902G>A	ENST00000300976.4	+	3	785	c.695G>A	c.(694-696)cGc>cAc	p.R232H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26			17					GCGGCCGTCCGCTGGCTGCAG	0.687000																								0							SO:0001583	missense			ENST00000300976.4	1	1	hg19	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712884	0.89112	.	.	ENSG00000167487	ENST00000300976	T	0.69926	-0.44	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.86740	2.835	0.80722	D	1	P	0.52170	0.951	P	0.48552	0.581	T	0.81972	-0.0688	9	.	.	.	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	232	Q53HC5	KLH26_HUMAN	H	232	ENSP00000300976:R232H	.	R	+	2	0	KLHL26	18639902	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.734000	0.84928	2.341000	0.79615	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	1	0	0	17	345	0	55	0	8.669291e-02	0	10	0	55	2		0	0	0	0	0	2	1	9.999628e-01	16	340	0	54	2								-2.891621	1	1	120744	2	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.570000	0.340000	1.000000	0.550000	0.613068	0.570000	0	4.400000e-01	7.700000e-01
KLHL26	55295	broad.mit.edu	37	19	18779809	18779809	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18779809G>A	ENST00000300976.4	+	3	1692	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26			17					ACTATGTGCCGGAGACGGACC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000300976.4	0	1	hg19	CCDS12384.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	0	0	1	64	366	1	69	1	8.468643e-01	7	32	1	69	4		0	0	0	0	0	2	1	9.999999e-01	61	363	1	68	20								-2.880997	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRTC1	23373	broad.mit.edu	37	19	18885767	18885767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18885767G>A	ENST00000321949.8	+	12	1509	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	CRTC1_ENST00000338797.6_Missense_Mutation_p.A511T|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1		CRTC1/MAML2(516)	19					GCAGATGGCGGCCAGGCAGGC	0.677000																								0							SO:0001583	missense			ENST00000321949.8	1	1	hg19	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162800	0.38217	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.18016	2.24;2.24	3.28	3.28	0.37604	.	0.523530	0.18511	N	0.139060	T	0.13841	0.0335	L	0.36672	1.1	0.41486	D	0.988191	P;B	0.49090	0.919;0.434	B;B	0.40825	0.341;0.085	T	0.13495	-1.0507	10	0.22109	T	0.4	-19.0374	13.6832	0.62499	0.0:0.0:1.0:0.0	.	511;495	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	T	511;495	ENSP00000345001:A511T;ENSP00000323332:A495T	ENSP00000323332:A495T	A	+	1	0	CRTC1	18746767	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	5.232000	0.65332	1.679000	0.50963	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	1	0	1	76	285	0	75	1	9.976995e-01	7	30	0	75	2		0	0	0	0	0	2	1	1	76	276	0	74	2								-3.853622	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRTC1	23373	broad.mit.edu	37	19	18888081	18888081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18888081C>T	ENST00000321949.8	+	14	1820	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	CRTC1_ENST00000338797.6_Silent_p.D614D|CRTC1_ENST00000601916.1_Silent_p.D356D|CRTC1_ENST00000594658.1_Silent_p.D557D	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1		CRTC1/MAML2(516)	19					TTCCCCTGGACGAACTCAAGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000321949.8	1	1	hg19	CCDS32963.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	0	0	0	351	1551	1	402	1	9.956210e-01	6	32	1	402	2		0	0	0	0	0	2	1	1	347	1526	1	398	17								-20.000000	1	0	121408	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COMP	1311	broad.mit.edu	37	19	18893930	18893930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18893930G>A	ENST00000222271.2	-	18	2205	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	COMP_ENST00000542601.2_Missense_Mutation_p.R688C|COMP_ENST00000425807.1_Missense_Mutation_p.R668C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein			32					ACCCCCAGGCGGCCACCCCGC	0.652000																								0							SO:0001583	missense			ENST00000222271.2	1	1	hg19	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102624	0.76983	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97378	-4.36;-4.36;-4.36	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.64402	U	0.000003	D	0.98692	0.9561	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99813	1.1042	10	0.87932	D	0	-32.7372	15.9884	0.80179	0.0:0.0:1.0:0.0	.	668;721	B4DKJ3;P49747	.;COMP_HUMAN	C	688;721;668;708	ENSP00000439156:R688C;ENSP00000222271:R721C;ENSP00000403792:R668C	ENSP00000222271:R721C	R	-	1	0	COMP	18754930	1.000000	0.71417	0.855000	0.33649	0.811000	0.45836	5.325000	0.65869	2.120000	0.65058	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	1	0	1	49	227	0	41	1	1	2	1282	0	41	2		0	0	0	0	0	2	1	1	46	225	0	40	2								-3.233459	1	1	121406	2	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COMP	1311	broad.mit.edu	37	19	18901372	18901372	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901372G>A	ENST00000222271.2	-	3	260	c.216C>T	c.(214-216)tgC>tgT	p.C72C	COMP_ENST00000542601.2_Splice_Site_p.C39C|COMP_ENST00000425807.1_Splice_Site_p.C72C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein			32					CGCGCTCACCGCACGCGTCAC	0.612000																								0							SO:0001630	splice_region_variant			ENST00000222271.2	1	0	hg19	CCDS12385.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	1	0	0	309	1619	0	384	0	1	0	491	0	384	2		0	0	0	0	0	2	1	1	297	1570	0	380	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COMP	1311	broad.mit.edu	37	19	18901411	18901411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901411G>A	ENST00000222271.2	-	3	221	c.177C>T	c.(175-177)atC>atT	p.I59I	COMP_ENST00000542601.2_Silent_p.I26I|COMP_ENST00000425807.1_Silent_p.I59I	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	p.I59I(1)		32					TCAGGAACGTGATCTCCCTGA	0.622000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000222271.2	1	1	hg19	CCDS12385.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	1	0	0	260	1353	0	306	0	1	1	641	0	306	2		0	0	0	0	0	2	1	1	253	1300	0	302	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CERS1	10715	broad.mit.edu	37	19	18990128	18990128	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18990128C>A	ENST00000427170.2	-	5	893	c.822G>T	c.(820-822)acG>acT	p.T274T	CERS1_ENST00000429504.2_Silent_p.T274T|CERS1_ENST00000542296.2_Silent_p.T176T|AC005197.2_ENST00000597769.1_RNA|GDF1_ENST00000247005.6_5'UTR	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1			5					TGTCAGGCACCGTGCGCAGAC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000427170.2	0	1	hg19	CCDS46020.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	7	74	0	20	0	3.562586e-01	1	12	0	20	2		0	0	0	0	0	2	1	9.822118e-01	7	74	0	20	2								-3.225040	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.480000	1.000000	1.000000	0.905424	0.990000	1	7.300000e-01	1
ARMC6	93436	broad.mit.edu	37	19	19162840	19162840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19162840C>T	ENST00000535612.1	+	5	1121	c.689C>T	c.(688-690)aCc>aTc	p.T230I	ARMC6_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I|ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6			14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		GGTGCCATCACCCATCATGGC	0.597000																								0							SO:0001583	missense			ENST00000535612.1	1	1	hg19	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	3.571	-0.087560	0.07097	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.32	-1.02	0.10135	Armadillo-like helical (1);Armadillo-type fold (1);	0.818936	0.11528	N	0.554983	T	0.51669	0.1688	L	0.36672	1.1	0.09310	N	1	B	0.34181	0.44	B	0.27170	0.077	T	0.35126	-0.9801	10	0.38643	T	0.18	-2.7493	5.6963	0.17857	0.1775:0.4361:0.0:0.3864	.	230	Q6NXE6	ARMC6_HUMAN	I	205;230;205;205;137;205;137;141;141;230	ENSP00000376147:T205I;ENSP00000444156:T230I;ENSP00000441948:T205I;ENSP00000269932:T205I;ENSP00000444341:T137I;ENSP00000446037:T205I;ENSP00000437580:T137I;ENSP00000376148:T230I	ENSP00000269932:T205I	T	+	2	0	ARMC6	19023840	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.010000	0.14839	-0.254000	0.11334	ACC		TCGA-IB-7651-01A-11D-2154-08	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	1	0	1	37	200	0	48	1	9.999028e-01	24	55	0	48	2		0	0	0	0	0	2	1	1	36	190	0	48	2								-20.000000	1	1	121412	11	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
ARMC6	93436	broad.mit.edu	37	19	19166187	19166187	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166187G>T	ENST00000535612.1	+	7	1569	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ARMC6_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6			14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		CTATGACCCAGCATCTGACCA	0.587000																								0							SO:0001583	missense			ENST00000535612.1	1	1	hg19	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.215|9.215	1.031972|1.031972	0.19590|0.19590	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535478;ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.30714	.|1.53;1.52;1.53;1.53;1.52	4.88|4.88	1.1|1.1	0.20463|0.20463	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.458981	.|0.21457	.|N	.|0.074236	T|T	0.12902|0.12902	0.0313|0.0313	N|N	0.12182|0.12182	0.205|0.205	0.31551|0.31551	N|N	0.658778|0.658778	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.05869|0.05869	-1.0859|-1.0859	5|10	.|0.37606	.|T	.|0.19	-12.8714|-12.8714	2.6774|2.6774	0.05084|0.05084	0.1647:0.3823:0.3175:0.1356|0.1647:0.3823:0.3175:0.1356	.|.	.|379	.|Q6NXE6	.|ARMC6_HUMAN	S|H	69;43|354;379;354;286;290;379	.|ENSP00000376147:Q354H;ENSP00000444156:Q379H;ENSP00000269932:Q354H;ENSP00000444341:Q286H;ENSP00000376148:Q379H	.|ENSP00000269932:Q354H	A|Q	+|+	1|3	0|2	ARMC6|ARMC6	19027187|19027187	0.028000|0.028000	0.19301|0.19301	0.991000|0.991000	0.47740|0.47740	0.340000|0.340000	0.28889|0.28889	-0.470000|-0.470000	0.06639|0.06639	0.994000|0.994000	0.38892|0.38892	0.563000|0.563000	0.77884|0.77884	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	1	0	1	64	253	0	45	1	9.999993e-01	29	57	0	45	2		0	0	0	0	0	2	1	1	62	249	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMC6	93436	broad.mit.edu	37	19	19166660	19166660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166660C>T	ENST00000535612.1	+	8	1648	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	ARMC6_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	p.R381S(1)|p.R406S(1)		14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		CGACAACAGCCGCATCATCGT	0.672000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000535612.1	1	1	hg19	CCDS56089.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	16.00|16.00	2.998589|2.998589	0.54147|0.54147	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72	5.24|5.24	4.14|4.14	0.48551|0.48551	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320112	.|0.32218	.|N	.|0.006406	T|T	0.57403|0.57403	0.2051|0.2051	M|M	0.61703|0.61703	1.905|1.905	0.47621|0.47621	D|D	0.999478|0.999478	.|D	.|0.89917	.|1.0	.|P	.|0.57324	.|0.818	T|T	0.59721|0.59721	-0.7401|-0.7401	5|10	.|0.56958	.|D	.|0.05	-30.9653|-30.9653	10.9243|10.9243	0.47182|0.47182	0.3419:0.6581:0.0:0.0|0.3419:0.6581:0.0:0.0	.|.	.|406	.|Q6NXE6	.|ARMC6_HUMAN	L|C	69|381;406;381;313;317;406	.|ENSP00000376147:R381C;ENSP00000444156:R406C;ENSP00000269932:R381C;ENSP00000444341:R313C;ENSP00000376148:R406C	.|ENSP00000269932:R381C	P|R	+|+	2|1	0|0	ARMC6|ARMC6	19027660|19027660	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.071000|0.071000	0.16799|0.16799	3.241000|3.241000	0.51376|0.51376	2.454000|2.454000	0.82982|0.82982	0.650000|0.650000	0.86243|0.86243	CCG|CGC		TCGA-IB-7651-01A-11D-2154-08	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	0	0	1	144	601	0	134	1	9.999993e-01	29	55	0	134	2		0	0	0	0	0	2	1	1	143	583	0	129	2								-3.019679	1	1	121388	7	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19168365C>T	ENST00000535612.1	+	9	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000269932.6_Silent_p.A453A|ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6			14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		CCAAGGCCGCCCTGCGGGACC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000535612.1	1	1	hg19	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.354|3.354	-0.131862|-0.131862	0.06753|0.06753	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000379532|ENST00000535478;ENST00000540634	.|.	.|.	.|.	4.09|4.09	1.73|1.73	0.24493|0.24493	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42732|0.42732	-0.9434|-0.9434	5|4	0.46703|.	T|.	0.11|.	-19.4935|-19.4935	6.1867|6.1867	0.20502|0.20502	0.4011:0.5041:0.0:0.0947|0.4011:0.5041:0.0:0.0947	.|.	.|.	.|.	.|.	L|S	388|122;58	.|.	ENSP00000368847:P388L|.	P|P	+|+	2|1	0|0	ARMC6|ARMC6	19029365|19029365	0.080000|0.080000	0.21391|0.21391	0.981000|0.981000	0.43875|0.43875	0.223000|0.223000	0.24884|0.24884	-0.182000|-0.182000	0.09726|0.09726	0.337000|0.337000	0.23665|0.23665	0.555000|0.555000	0.69702|0.69702	CCC|CCT		TCGA-IB-7651-01A-11D-2154-08	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	1	0	1	77	316	0	65	1	9.999999e-01	34	65	0	65	2		0	0	0	0	0	2	1	1	77	313	0	64	2								-3.570476	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A42	284439	broad.mit.edu	37	19	19221530	19221530	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19221530G>A	ENST00000318596.7	+	8	953	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42			6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		CGCCTCCATCGCCCGCACGCT	0.711000																								0							SO:0001583	missense			ENST00000318596.7	0	1	hg19	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.101014	0.20552	.	.	ENSG00000181035	ENST00000318596	T	0.79352	-1.26	4.92	-5.18	0.02840	Mitochondrial carrier domain (2);	1.297250	0.05156	N	0.496932	T	0.49626	0.1568	N	0.05230	-0.09	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	10	0.16896	T	0.51	-10.0741	3.8853	0.09096	0.3208:0.4395:0.1469:0.0928	.	268	Q86VD7	S2542_HUMAN	T	268	ENSP00000326693:A268T	ENSP00000326693:A268T	A	+	1	0	SLC25A42	19082530	0.002000	0.14202	0.087000	0.20705	0.032000	0.12392	-0.126000	0.10563	-0.099000	0.12263	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	0	0	0	25	80	0	23	0	1.485405e-01	0	3	0	23	2		0	0	0	0	0	2	1	9.999999e-01	25	79	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RFXANK	8625	broad.mit.edu	37	19	19308954	19308954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19308954C>T	ENST00000303088.4	+	7	951	c.477C>T	c.(475-477)agC>agT	p.S159S	RFXANK_ENST00000407360.3_Silent_p.S159S|RFXANK_ENST00000392324.4_Silent_p.S136S|RFXANK_ENST00000456252.3_Silent_p.S137S|RFXANK_ENST00000353145.1_Silent_p.S136S	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein			14			Epithelial(12;0.00228)		AGCGAGAGAGCGCCCTGTCGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000303088.4	1	1	hg19	CCDS12395.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	1	0	1	145	624	0	145	1	1	42	119	0	145	2		0	0	0	0	0	2	1	1	143	603	0	144	2								-20.000000	1	1	121412	5	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAN	1463	broad.mit.edu	37	19	19339148	19339148	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19339148A>G	ENST00000252575.6	+	8	2818	c.2719A>G	c.(2719-2721)Acc>Gcc	p.T907A	NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan			64			Epithelial(12;0.00544)	Hyaluronan(DB08818)	TCAGGTGGAGACCCAGGGAAC	0.622000																								0							SO:0001583	missense			ENST00000252575.6	1	1	hg19	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	7.693	0.691540	0.15039	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84516	-1.71;-1.86	3.49	-0.261	0.12963	.	0.996046	0.08127	N	0.993839	T	0.66366	0.2782	N	0.12746	0.255	0.09310	N	1	B;B	0.17852	0.024;0.0	B;B	0.08055	0.003;0.001	T	0.51252	-0.8729	10	0.07175	T	0.84	.	5.8932	0.18925	0.5843:0.0:0.4157:0.0	.	921;907	Q4LE67;O14594	.;NCAN_HUMAN	A	921;907;358	ENSP00000252575:T907A;ENSP00000442202:T358A	ENSP00000252575:T907A	T	+	1	0	NCAN	19200148	0.003000	0.15002	0.335000	0.25508	0.385000	0.30292	0.082000	0.14847	-0.038000	0.13624	-0.415000	0.06103	ACC		TCGA-IB-7651-01A-11D-2154-08	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	0	0	0	20	625	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	9.999945e-01	20	616	0	136	2								-17.082460	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.380000	0.230000	1.000000	0.360000	0.432297	0.380000	0	2.900000e-01	5.000000e-01
NCAN	1463	broad.mit.edu	37	19	19344688	19344688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19344688G>A	ENST00000252575.6	+	9	3209	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCAN_ENST00000538881.1_Missense_Mutation_p.G488D|RNU6-1028P_ENST00000517164.1_RNA	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan			64			Epithelial(12;0.00544)	Hyaluronan(DB08818)	TGTGATCAGGGCTTCGCCGGG	0.517000																								0							SO:0001583	missense			ENST00000252575.6	1	1	hg19	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443611	0.83993	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.98192	-3.78;-4.78	4.73	4.73	0.59995	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38720	N	0.001585	D	0.98924	0.9635	M	0.86178	2.8	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99342	1.0912	10	0.87932	D	0	.	15.5873	0.76495	0.0:0.0:1.0:0.0	.	1051;1037	Q4LE67;O14594	.;NCAN_HUMAN	D	1051;1037;488	ENSP00000252575:G1037D;ENSP00000442202:G488D	ENSP00000252575:G1037D	G	+	2	0	NCAN	19205688	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	8.872000	0.92352	2.627000	0.88993	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	1	0	1	63	280	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	1	60	276	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAN	1463	broad.mit.edu	37	19	19351435	19351435	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19351435A>G	ENST00000252575.6	+	12	3532	c.3433A>G	c.(3433-3435)Atc>Gtc	p.I1145V	NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan			64			Epithelial(12;0.00544)	Hyaluronan(DB08818)	AAACACGTGGATCGGCCTGAA	0.632000																								0							SO:0001583	missense			ENST00000252575.6	1	1	hg19	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	a	17.84	3.487349	0.63962	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.28255	1.62;1.62	3.98	2.93	0.34026	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.289221	0.19360	N	0.116172	T	0.41050	0.1142	M	0.86178	2.8	0.39059	D	0.960496	B	0.33171	0.4	B	0.39465	0.3	T	0.38929	-0.9638	10	0.56958	D	0.05	.	8.5633	0.33525	0.8046:0.1953:0.0:0.0	.	1145	O14594	NCAN_HUMAN	V	1159;1145;596	ENSP00000252575:I1145V;ENSP00000442202:I596V	ENSP00000252575:I1145V	I	+	1	0	NCAN	19212435	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	6.913000	0.75759	0.557000	0.29117	0.240000	0.17902	ATC		TCGA-IB-7651-01A-11D-2154-08	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	1	0	0	32	335	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	31	331	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.730000	1.000000	1.000000	0.956822	0.990000	1	8.700000e-01	1
GATAD2A	54815	broad.mit.edu	37	19	19609351	19609351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19609351G>A	ENST00000360315.3	+	8	1336	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	GATAD2A_ENST00000404158.1_Missense_Mutation_p.A342T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A			13					CGAGTCTCCAGCAAGCCGACA	0.647000																								0							SO:0001583	missense			ENST00000360315.3	1	1	hg19	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472267	0.84533	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.58210	0.98;0.86;0.98;0.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.74290	-0.3713	9	.	.	.	-12.9224	18.3542	0.90351	0.0:0.0:1.0:0.0	.	169;361;342	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	342;342;361;342;169	ENSP00000353463:A342T;ENSP00000252577:A342T;ENSP00000351552:A342T;ENSP00000388416:A169T	.	A	+	1	0	GATAD2A	19470351	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.775000	0.98995	2.691000	0.91804	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	1	0	1	70	226	0	61	1	1	48	117	0	61	2		0	0	0	0	0	2	1	1	66	213	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GATAD2A	54815	broad.mit.edu	37	19	19613287	19613287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19613287G>A	ENST00000360315.3	+	11	2035	c.1723G>A	c.(1723-1725)Ggc>Agc	p.G575S	GATAD2A_ENST00000404158.1_Missense_Mutation_p.G576S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A			13					CGTGAGCGCCGGCAAGGGCAG	0.642000																								0							SO:0001583	missense			ENST00000360315.3	1	1	hg19	CCDS12402.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.707|2.707	-0.269549|-0.269549	0.05716|0.05716	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000167491|ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563|ENST00000418032	T;T;T;T|.	0.42513|.	1.53;1.56;1.53;0.97|.	5.04|5.04	-2.26|-2.26	0.06867|0.06867	.|.	0.569617|.	0.19591|.	N|.	0.110628|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.34521|0.34521	1.04|1.04	0.20196|0.20196	N|N	0.99992|0.99992	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.06405|.	0.001;0.001;0.002|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|5	0.22109|.	T|.	0.4|.	-5.3751|-5.3751	9.6909|9.6909	0.40127|0.40127	0.5268:0.0:0.4732:0.0|0.5268:0.0:0.4732:0.0	.|.	378;595;575|.	B4DKZ7;B5MC40;Q86YP4|.	.;.;P66A_HUMAN|.	S|Q	575;550;204;595;575;378|176	ENSP00000353463:G575S;ENSP00000252577:G550S;ENSP00000351552:G575S;ENSP00000388416:G378S|.	ENSP00000252577:G550S|.	G|R	+|+	1|2	0|0	GATAD2A|GATAD2A	19474287|19474287	0.037000|0.037000	0.19845|0.19845	0.047000|0.047000	0.18901|0.18901	0.125000|0.125000	0.20455|0.20455	0.302000|0.302000	0.19192|0.19192	-0.142000|-0.142000	0.11354|0.11354	-0.143000|-0.143000	0.13931|0.13931	GGC|CGG		TCGA-IB-7651-01A-11D-2154-08	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	0	0	1	147	596	1	110	1	1	42	125	1	110	7		0	0	0	0	0	2	1	1	145	587	1	110	22								-2.862493	1	1	121396	89	53	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CILP2	148113	broad.mit.edu	37	19	19650526	19650526	+	Missense_Mutation	SNP	G	G	A	rs142743091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19650526G>A	ENST00000291495.5	+	2	188	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CILP2_ENST00000586018.1_Missense_Mutation_p.G35S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2			32					GACTGCACTGGGCCTGGAAAG	0.667000																								0							SO:0001583	missense			ENST00000291495.5	1	1	hg19	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958261	0.53400	0.0	1.16E-4	ENSG00000160161	ENST00000291495	T	0.52983	0.64	3.24	3.24	0.37175	.	0.140569	0.32218	N	0.006416	T	0.26085	0.0636	N	0.14661	0.345	0.37661	D	0.922776	B;B	0.19331	0.012;0.035	B;B	0.11329	0.006;0.006	T	0.13335	-1.0513	10	0.13853	T	0.58	-1.0353	10.2898	0.43588	0.0:0.0:1.0:0.0	.	35;35	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	35	ENSP00000291495:G35S	ENSP00000291495:G35S	G	+	1	0	CILP2	19511526	0.993000	0.37304	0.903000	0.35520	0.157000	0.22087	2.425000	0.44723	2.133000	0.65898	0.456000	0.33151	GGC		TCGA-IB-7651-01A-11D-2154-08	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	0	0	0	23	848	0	133	0	7.407059e-03	0	5	0	133	2		0	0	0	0	0	2	1	9.999989e-01	23	812	0	131	2								-2.844099	1	1	121410	3	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.320000	0.200000	1.000000	0.310000	0.379091	0.320000	0	2.500000e-01	4.200000e-01
CILP2	148113	broad.mit.edu	37	19	19655592	19655592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19655592C>T	ENST00000291495.5	+	8	2323	c.2238C>T	c.(2236-2238)aaC>aaT	p.N746N	CILP2_ENST00000586018.1_Silent_p.N752N	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2			32					CCTACGCCAACGACAAGTTCA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000291495.5	1	1	hg19	CCDS12405.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	1	0	0	37	199	0	34	0	6.947716e-02	0	3	0	34	2		0	0	0	0	0	2	1	1	37	194	0	34	2								-20.000000	1	1	120978	1	27	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
PBX4	80714	broad.mit.edu	37	19	19675846	19675846	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19675846T>C	ENST00000251203.9	-	6	1107	c.821A>G	c.(820-822)aAg>aGg	p.K274R		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4			9					TTCTTGAAACTTCCCCATGTT	0.522000																								0							SO:0001583	missense			ENST00000251203.9	1	1	hg19	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	t	13.22	2.170696	0.38315	.	.	ENSG00000105717	ENST00000251203	D	0.83591	-1.74	3.85	2.83	0.33086	Homeodomain-related (1);Homeobox (1);	0.063396	0.64402	N	0.000008	D	0.88459	0.6442	M	0.78049	2.395	0.46564	D	0.999109	D	0.63880	0.993	D	0.72625	0.978	D	0.85733	0.1332	10	0.44086	T	0.13	-18.6076	7.4495	0.27229	0.0:0.1075:0.0:0.8925	.	274	Q9BYU1	PBX4_HUMAN	R	274	ENSP00000251203:K274R	ENSP00000251203:K274R	K	-	2	0	PBX4	19536846	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	3.159000	0.50731	0.566000	0.29273	-0.453000	0.05500	AAG		TCGA-IB-7651-01A-11D-2154-08	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6	1	0	1	375	1483	0	318	1	9.191729e-01	8	11	0	318	2		0	0	0	0	0	2	1	1	368	1462	0	314	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPAR2	9170	broad.mit.edu	37	19	19737613	19737613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19737613G>A	ENST00000542587.1	-	5	1383	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Silent_p.L161L|LPAR2_ENST00000586703.1_Silent_p.L161L			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2			10					AGCAGCCCCAGGCCCAGGGCA	0.706000																								0							SO:0001819	synonymous_variant			ENST00000542587.1	1	1	hg19	CCDS12407.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	1	0	1	28	72	0	13	1	9.999916e-01	26	29	0	13	2		0	0	0	0	0	2	1	1	28	70	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GMIP	51291	broad.mit.edu	37	19	19752634	19752634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19752634G>A	ENST00000203556.4	-	4	360	c.223C>T	c.(223-225)Cct>Tct	p.P75S	GMIP_ENST00000587238.1_Missense_Mutation_p.P75S|GMIP_ENST00000445806.2_Missense_Mutation_p.P75S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein			24					AGGGGTACAGGACCCTCTGGG	0.592000																								0							SO:0001583	missense			ENST00000203556.4	0	1	hg19	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	7.783	0.709920	0.15239	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.28666	1.6;1.6	4.54	3.5	0.40072	.	0.178990	0.27181	N	0.020545	T	0.24275	0.0588	L	0.47190	1.495	0.09310	N	1	B;B;B	0.32245	0.022;0.361;0.01	B;B;B	0.30646	0.016;0.118;0.016	T	0.13202	-1.0518	10	0.39692	T	0.17	-9.5134	8.2165	0.31514	0.1084:0.0:0.8916:0.0	.	75;75;75	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	S	75	ENSP00000203556:P75S;ENSP00000397075:P75S	ENSP00000203556:P75S	P	-	1	0	GMIP	19613634	0.265000	0.24102	0.053000	0.19242	0.458000	0.32498	1.855000	0.39378	1.126000	0.42016	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	0	0	0	4	97	0	17	1	5.968898e-01	5	40	0	17	2		0	0	0	0	0	2	1	8.794918e-01	4	92	0	17	2								-7.403530	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.530000	0.180000	1.000000	1.000000	0.579761	0.530000	0	3.200000e-01	9.000000e-01
ATP13A1	57130	broad.mit.edu	37	19	19767835	19767835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19767835G>A	ENST00000357324.6	-	5	900	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1			29					CCCATCTTCCGGATCTCCGAC	0.602000													Esophageal Squamous(142;920 1789 9047 14684 24777)											0							SO:0001583	missense			ENST00000357324.6	0	1	hg19	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132679	0.77662	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.89552	-2.53;-2.53	5.36	4.32	0.51571	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.053509	0.64402	D	0.000001	D	0.96272	0.8784	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96452	0.9335	10	0.72032	D	0.01	-28.0434	11.1694	0.48563	0.0:0.0:0.6654:0.3346	.	292;174	Q9HD20;Q9HD20-2	AT131_HUMAN;.	W	174;292	ENSP00000291503:R174W;ENSP00000349877:R292W	ENSP00000291503:R174W	R	-	1	2	ATP13A1	19628835	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.171000	0.64996	1.253000	0.44018	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	1	0	1	11	51	0	12	1	9.997846e-01	12	69	0	12	2		0	0	0	0	0	2	1	9.984713e-01	9	50	0	12	2								-19.840680	1	1	121290	4	25	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998307	0.990000	1	9.900000e-01	1
ZNF101	94039	broad.mit.edu	37	19	19789533	19789533	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19789533A>C	ENST00000592502.1	+	3	240		c.e3-1		ZNF101_ENST00000415784.2_Splice_Site|ZNF101_ENST00000444249.2_Splice_Site			Q8IZC7	ZN101_HUMAN	zinc finger protein 101			17					TCTACATTTTAGGAATCCAAT	0.358000																								0							SO:0001630	splice_region_variant			ENST00000592502.1	1	1	hg19	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720090	0.30503	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3292	0.04231	0.5263:1.0E-4:1.0E-4:0.4736	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF101	19650533	0.412000	0.25392	0.638000	0.29380	0.638000	0.38207	1.917000	0.39996	0.263000	0.21812	0.260000	0.18958	.		TCGA-IB-7651-01A-11D-2154-08	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	1	0	1	42	159	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	42	156	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF101	94039	broad.mit.edu	37	19	19790189	19790189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19790189G>A	ENST00000592502.1	+	4	501	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101			17					CAAACGATCTGAGTGTGGTGG	0.527000																								0							SO:0001583	missense			ENST00000592502.1	1	1	hg19	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812048	0.16537	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14266	2.52;3.36	0.235	0.235	0.15431	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.31548	0.328	B	0.27262	0.078	T	0.38972	-0.9636	9	0.33141	T	0.24	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	131	Q8IZC7	ZN101_HUMAN	K	131;131;11	ENSP00000319716:E131K;ENSP00000400952:E11K	ENSP00000319716:E131K	E	+	1	0	ZNF101	19651189	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-3.770000	0.00371	0.308000	0.22923	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	1	0	0	30	373	0	106	1	7.170813e-01	2	31	0	106	2		0	0	0	0	0	2	1	1	30	364	0	106	2								-3.318795	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.900000	0.610000	1.000000	1.000000	0.882868	0.900000	1	7.400000e-01	1
ZNF14	7561	broad.mit.edu	37	19	19822954	19822954	+	Missense_Mutation	SNP	C	C	T	rs3752153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19822954C>T	ENST00000344099.3	-	4	1274	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14			32		Renal(1328;0.0474)			TTCATGCAATCGAAGAGAAAT	0.373000																								0							SO:0001583	missense			ENST00000344099.3	1	0	hg19	CCDS12409.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	7.577	0.667896	0.14710	0.0	1.16E-4	ENSG00000105708	ENST00000344099	T	0.04275	3.66	1.12	0.0113	0.14086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01222	0.0040	N	0.21282	0.65	0.09310	N	1	P	0.40250	0.709	B	0.22386	0.039	T	0.36261	-0.9755	9	0.08179	T	0.78	.	1.8944	0.03255	0.3173:0.4539:0.0:0.2288	rs3752153;rs52811487;rs3752153	379	P17017	ZNF14_HUMAN	Q	379	ENSP00000340514:R379Q	ENSP00000340514:R379Q	R	-	2	0	ZNF14	19683954	0.001000	0.12720	0.019000	0.16419	0.869000	0.49853	0.632000	0.24583	0.040000	0.15660	-0.373000	0.07131	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	1	0	1	85	356	0	77	1	9.504118e-01	2	21	0	77	2		0	0	0	0	0	2	1	1	85	350	0	76	2								-3.047163	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF14	7561	broad.mit.edu	37	19	19823186	19823186	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19823186T>C	ENST00000344099.3	-	4	1042	c.904A>G	c.(904-906)Agt>Ggt	p.S302G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14			32		Renal(1328;0.0474)			TTCTCTCCACTATGAGTCCTT	0.388000																								0							SO:0001583	missense			ENST00000344099.3	1	1	hg19	CCDS12409.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	17.64	3.438753	0.62955	.	.	ENSG00000105708	ENST00000344099	T	0.19669	2.13	1.8	1.8	0.24995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21761	0.0524	L	0.60067	1.865	0.22240	N	0.999268	P	0.36086	0.536	B	0.40256	0.324	T	0.25222	-1.0138	9	0.87932	D	0	.	3.952	0.09374	0.3229:0.0:0.0:0.6771	.	302	P17017	ZNF14_HUMAN	G	302	ENSP00000340514:S302G	ENSP00000340514:S302G	S	-	1	0	ZNF14	19684186	1.000000	0.71417	0.031000	0.17742	0.777000	0.43975	2.010000	0.40913	0.811000	0.34303	0.383000	0.25322	AGT		TCGA-IB-7651-01A-11D-2154-08	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	1	0	0	9	206	0	64	0	1.380742e-01	0	14	0	64	2		0	0	0	0	0	2	1	9.940158e-01	9	202	0	63	2								-11.621150	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.530000	0.250000	1.000000	0.500000	0.571964	0.530000	0	3.700000e-01	7.700000e-01
BTBD2	55643	broad.mit.edu	37	19	1986857	1986857	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1986857A>G	ENST00000255608.4	-	8	1404	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2			12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)			CGTGTAGTTGACGTTGGGCAG	0.662000																								0							SO:0001583	missense			ENST00000255608.4	1	1	hg19	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773697	0.31411	.	.	ENSG00000133243	ENST00000255608	T	0.74632	-0.86	4.7	3.68	0.42216	PHR (1);	0.059770	0.64402	D	0.000003	T	0.67979	0.2951	L	0.52011	1.625	0.58432	D	0.999998	P	0.36222	0.544	B	0.38683	0.279	T	0.65010	-0.6272	10	0.40728	T	0.16	-44.8083	9.631	0.39778	0.9167:0.0:0.0833:0.0	.	463	Q9BX70	BTBD2_HUMAN	A	463	ENSP00000255608:V463A	ENSP00000255608:V463A	V	-	2	0	BTBD2	1937857	1.000000	0.71417	0.161000	0.22692	0.023000	0.10783	7.112000	0.77086	0.920000	0.36970	0.459000	0.35465	GTC		TCGA-IB-7651-01A-11D-2154-08	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2	1	0	1	58	273	0	50	1	1	95	257	0	50	2		0	0	0	0	0	2	1	1	58	268	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTBD2	55643	broad.mit.edu	37	19	1990071	1990071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1990071C>T	ENST00000255608.4	-	5	936	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2			12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)			CAGAACCTTCCGCCTGTTCTC	0.637000																								0							SO:0001583	missense			ENST00000255608.4	0	1	hg19	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.870013	0.72065	.	.	ENSG00000133243	ENST00000255608	T	0.68331	-0.32	4.23	3.19	0.36642	BTB/Kelch-associated (2);	0.056295	0.64402	D	0.000003	T	0.70945	0.3282	M	0.79805	2.47	0.53005	D	0.999964	P	0.43578	0.811	P	0.46208	0.507	T	0.72151	-0.4377	10	0.44086	T	0.13	-26.2441	11.1606	0.48514	0.0:0.9091:0.0:0.0909	.	307	Q9BX70	BTBD2_HUMAN	Q	307	ENSP00000255608:R307Q	ENSP00000255608:R307Q	R	-	2	0	BTBD2	1941071	1.000000	0.71417	0.947000	0.38551	0.648000	0.38561	4.679000	0.61649	0.998000	0.38996	0.549000	0.68633	CGG		TCGA-IB-7651-01A-11D-2154-08	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2	0	0	0	5	215	0	51	1	9.838827e-01	25	318	0	51	2		0	0	0	0	0	2	1	9.328107e-01	5	208	0	50	2								-3.318486	1	0	121398	3	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.300000	0.110000	1.000000	0.270000	0.369420	0.300000	0	1.900000e-01	5.000000e-01
MKNK2	2872	broad.mit.edu	37	19	2043157	2043157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2043157G>A	ENST00000591601.1	-	6	494	c.459C>T	c.(457-459)gaC>gaT	p.D153D	MKNK2_ENST00000541165.1_Silent_p.D22D|MKNK2_ENST00000250896.3_Silent_p.D153D|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.D153D|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000591588.1_5'Flank			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2			10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)			GGTAGAAGCGGTCCTCCTCCT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000591601.1	1	1	hg19	CCDS12080.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	1	0	0	199	909	0	216	1	1	120	265	0	216	2		0	0	0	0	0	2	1	1	189	883	1	214	18								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF626	199777	broad.mit.edu	37	19	20807526	20807526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20807526G>A	ENST00000601440.1	-	4	1303	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626			6					TATCTTATGCGTAGTAAGGTC	0.383000																								0							SO:0001583	missense			ENST00000601440.1	1	0	hg19	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	8.123	0.781388	0.16120	2.33E-4	4.67E-4	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	N	0.21240	0.645	0.09310	N	1	D	0.63880	0.993	P	0.52793	0.709	T	0.14924	-1.0455	8	0.52906	T	0.07	.	2.2019	0.03926	0.3045:0.3393:0.3562:0.0	.	386	Q68DY1	ZN626_HUMAN	M	386;310;386	.	ENSP00000445201:T386M	T	-	2	0	ZNF626	20599366	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-7.731000	0.00031	0.284000	0.22305	0.289000	0.19496	ACG		TCGA-IB-7651-01A-11D-2154-08	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	0	0	1	72	338	0	92	0	1.470152e-01	0	4	0	92	2		0	0	0	0	0	2	1	1	70	321	0	92	2								-3.128649	1	1	121200	15	46	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF626	199777	broad.mit.edu	37	19	20808152	20808152	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20808152T>C	ENST00000601440.1	-	4	677	c.531A>G	c.(529-531)gaA>gaG	p.E177E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626			6					CTTTGCCACATTCTATATATT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000601440.1	1	1	hg19	CCDS42535.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	1	0	1	50	214	0	63	0	5.353674e-01	0	9	0	63	2		0	0	0	0	0	2	1	1	49	207	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF85	7639	broad.mit.edu	37	19	21131671	21131671	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131671C>A	ENST00000328178.8	+	4	464	c.351C>A	c.(349-351)ggC>ggA	p.G117G	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.G84G|ZNF85_ENST00000601023.1_Silent_p.G58G	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85			20					TAAGAAAAGGCTGTGAAAGTA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000328178.8	1	1	hg19	CCDS32977.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	1	57	288	0	61	0	7.527064e-02	0	3	0	61	2		0	0	0	0	0	2	1	1	56	286	0	60	2								-4.575195	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF85	7639	broad.mit.edu	37	19	21131956	21131956	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131956C>T	ENST00000328178.8	+	4	749	c.636C>T	c.(634-636)aaC>aaT	p.N212N	ZNF85_ENST00000345030.6_Silent_p.N179N|ZNF85_ENST00000601023.1_Silent_p.N153N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85			20					AAGCCTTTAACTGGTCCTCAA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000328178.8	1	1	hg19	CCDS32977.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	0	58	200	0	52	0	4.918167e-01	1	6	0	52	2		0	0	0	0	0	2	1	1	58	195	0	52	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF85	7639	broad.mit.edu	37	19	21132044	21132044	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132044T>C	ENST00000328178.8	+	4	837	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P|ZNF85_ENST00000601023.1_Missense_Mutation_p.S183P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85			20					CTTTAACCAGTCCTCAAACCT	0.358000																								0							SO:0001583	missense			ENST00000328178.8	1	1	hg19	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	5.177	0.218265	0.09810	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.01084	5.36;5.36	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	L	0.28115	0.83	0.09310	N	1	B;P;B	0.41748	0.016;0.761;0.012	B;B;B	0.29942	0.013;0.109;0.016	T	0.45934	-0.9227	9	0.48119	T	0.1	.	0.2719	0.00232	0.3076:0.2934:0.1852:0.2138	.	209;183;242	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	P	242;209;117	ENSP00000329793:S242P;ENSP00000342340:S209P	ENSP00000329793:S242P	S	+	1	0	ZNF85	20923884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.366000	0.08064	-0.464000	0.05259	TCC		TCGA-IB-7651-01A-11D-2154-08	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	1	36	198	0	40	0	1.776218e-01	0	5	0	40	2		0	0	0	0	0	2	1	1	35	195	0	40	2								-20.000000	1	0	121240	6	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
ZNF85	7639	broad.mit.edu	37	19	21132513	21132513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132513A>G	ENST00000328178.8	+	4	1306	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C|ZNF85_ENST00000601023.1_Missense_Mutation_p.Y339C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85			20					GAGAAACCTTACAAATGTAAA	0.328000																								0							SO:0001583	missense			ENST00000328178.8	0	1	hg19	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	2.088	-0.409035	0.04799	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41259	0.1151	M	0.70903	2.155	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.995;0.955	T	0.21999	-1.0229	9	0.66056	D	0.02	.	2.1393	0.03771	0.5521:0.0:0.193:0.2549	.	365;339;398	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	398;365;273	ENSP00000329793:Y398C;ENSP00000342340:Y365C	ENSP00000329793:Y398C	Y	+	2	0	ZNF85	20924353	0.000000	0.05858	0.038000	0.18304	0.086000	0.17979	-0.339000	0.07832	0.569000	0.29329	0.379000	0.24179	TAC		TCGA-IB-7651-01A-11D-2154-08	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	1	14	127	0	20	0	5.950387e-02	0	4	0	20	2		0	0	0	0	0	2	1	9.997735e-01	14	124	0	20	2								-19.939940	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.690000	1.000000	1.000000	0.966236	0.990000	1	9.200000e-01	1
ZNF85	7639	broad.mit.edu	37	19	21132849	21132849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132849A>G	ENST00000328178.8	+	4	1642	c.1529A>G	c.(1528-1530)tAc>tGc	p.Y510C	ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C|ZNF85_ENST00000601023.1_Missense_Mutation_p.Y451C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85			20					GAGAAACCATACAAATGTGAA	0.358000																								0							SO:0001583	missense			ENST00000328178.8	1	1	hg19	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452397	0.26074	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46814	0.1412	M	0.82630	2.6	0.23585	N	0.997358	B;D;D	0.89917	0.335;1.0;1.0	B;D;D	0.87578	0.079;0.998;0.99	T	0.21381	-1.0247	9	0.66056	D	0.02	.	4.7728	0.13164	0.5682:0.0:0.0:0.4318	.	477;451;510	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	510;477;385	ENSP00000329793:Y510C;ENSP00000342340:Y477C	ENSP00000329793:Y510C	Y	+	2	0	ZNF85	20924689	0.001000	0.12720	0.011000	0.14972	0.135000	0.20990	-0.032000	0.12266	0.569000	0.29329	0.379000	0.24179	TAC		TCGA-IB-7651-01A-11D-2154-08	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	1	0	1	40	176	0	55	0	2.396079e-01	0	5	0	55	2		0	0	0	0	0	2	1	1	39	172	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP3D1	8943	broad.mit.edu	37	19	2116654	2116654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2116654G>A	ENST00000345016.5	-	17	2182	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W|AP3D1_ENST00000355272.6_Missense_Mutation_p.R651W	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit			37		Hepatocellular(1079;0.137)			TTGGGACGCCGCTGCTCCTCC	0.697000																								0							SO:0001583	missense			ENST00000345016.5	1	1	hg19	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319203	0.41096	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.64618	2.13;-0.11;1.49;-0.11	5.16	1.7	0.24286	Armadillo-like helical (1);	0.156867	0.56097	D	0.000035	T	0.71048	0.3294	M	0.65975	2.015	0.24027	N	0.996123	D;B;D	0.76494	0.999;0.173;0.998	P;B;D	0.65987	0.854;0.111;0.94	T	0.61739	-0.7001	10	0.59425	D	0.04	-33.7094	8.0557	0.30604	0.0973:0.0:0.3076:0.595	.	651;651;560	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	W	560;651;651;651;482	ENSP00000349398:R560W;ENSP00000344055:R651W;ENSP00000347416:R651W;ENSP00000342321:R482W	ENSP00000341579:R651W	R	-	1	2	AP3D1	2067654	0.920000	0.31207	0.061000	0.19648	0.152000	0.21847	1.782000	0.38654	0.008000	0.14787	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1	1	0	1	19	66	0	14	1	1	49	145	0	14	2		0	0	0	0	0	2	1	9.999957e-01	19	65	0	14	2								-20.000000	1	1	120568	3	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
ZNF430	80264	broad.mit.edu	37	19	21205649	21205649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21205649G>A	ENST00000261560.5	+	2	239	c.58G>A	c.(58-60)Gct>Act	p.A20T	ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T|ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430			23					ATGCCCTGGGGCTGACAGGAA	0.443000																								0							SO:0001583	missense			ENST00000261560.5	1	1	hg19	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320681	0.23994	.	.	ENSG00000118620	ENST00000261560	T	0.04862	3.54	0.82	-0.347	0.12617	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B	0.34103	0.32;0.437	B;B	0.27500	0.02;0.08	T	0.43410	-0.9393	9	0.11182	T	0.66	.	2.9792	0.05948	0.3723:0.0:0.6277:0.0	.	20;20	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	T	20	ENSP00000261560:A20T	ENSP00000261560:A20T	A	+	1	0	ZNF430	20997489	0.003000	0.15002	0.002000	0.10522	0.543000	0.35085	-1.040000	0.03546	-0.098000	0.12285	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	1	0	0	21	472	0	97	0	2.562982e-01	1	21	0	97	2		0	0	0	0	0	2	1	9.999972e-01	21	464	0	96	2								-19.817840	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.520000	0.320000	1.000000	0.500000	0.560992	0.520000	0	4.100000e-01	6.800000e-01
AP3D1	8943	broad.mit.edu	37	19	2121030	2121030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121030C>T	ENST00000345016.5	-	14	1543	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000355272.6_Missense_Mutation_p.A438T	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit			37		Hepatocellular(1079;0.137)			ATTTGGGCGGCGATGAGGTGG	0.662000																								0							SO:0001583	missense			ENST00000345016.5	1	1	hg19	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992887	0.93167	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.67	4.67	0.58626	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.74023	0.866;0.97;0.982	T	0.68029	-0.5517	10	0.72032	D	0.01	-8.4116	16.537	0.84375	0.0:1.0:0.0:0.0	.	438;438;347	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	T	347;438;438;438;269	ENSP00000349398:A347T;ENSP00000344055:A438T;ENSP00000347416:A438T;ENSP00000342321:A269T	ENSP00000341579:A438T	A	-	1	0	AP3D1	2072030	1.000000	0.71417	0.658000	0.29665	0.674000	0.39518	7.641000	0.83368	2.161000	0.67846	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1	1	0	1	53	267	0	52	1	1	59	188	0	52	2		0	0	0	0	0	2	1	1	53	265	0	52	2								-20.000000	1	1	121208	4	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP3D1	8943	broad.mit.edu	37	19	2121812	2121812	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121812T>C	ENST00000345016.5	-	12	1253	c.1022A>G	c.(1021-1023)cAc>cGc	p.H341R	AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000355272.6_Missense_Mutation_p.H341R	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit			37		Hepatocellular(1079;0.137)			GAGGTCCTTGTGGGACTGCAC	0.637000																								0							SO:0001583	missense			ENST00000345016.5	1	1	hg19	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802321	0.90538	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.39	4.39	0.52855	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.94101	3.495	0.80722	D	1	P;D;P	0.53885	0.903;0.963;0.921	P;D;P	0.67103	0.699;0.949;0.851	T	0.59172	-0.7504	10	0.72032	D	0.01	-49.3114	13.0686	0.59048	0.0:0.0:0.0:1.0	.	341;341;250	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	R	250;341;341;341;172	ENSP00000349398:H250R;ENSP00000344055:H341R;ENSP00000347416:H341R;ENSP00000342321:H172R	ENSP00000341579:H341R	H	-	2	0	AP3D1	2072812	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.813000	0.86123	1.759000	0.51996	0.379000	0.24179	CAC		TCGA-IB-7651-01A-11D-2154-08	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1	1	0	1	147	686	0	158	1	1	84	168	0	158	2		0	0	0	0	0	2	1	1	147	674	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF430	80264	broad.mit.edu	37	19	21239790	21239790	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21239790A>G	ENST00000261560.5	+	5	857	c.676A>G	c.(676-678)Att>Gtt	p.I226V	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430			23					ACATAAAAGAATTCATATTAG	0.318000																								0							SO:0001583	missense			ENST00000261560.5	1	1	hg19	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	1.137	-0.650570	0.03506	.	.	ENSG00000118620	ENST00000261560	T	0.00986	5.47	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05158	-0.105	0.09310	N	1	B;B	0.21225	0.001;0.053	B;B	0.26517	0.002;0.07	T	0.46748	-0.9169	9	0.52906	T	0.07	.	2.3597	0.04304	0.5631:0.0:0.1985:0.2384	.	225;226	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	V	226	ENSP00000261560:I226V	ENSP00000261560:I226V	I	+	1	0	ZNF430	21031630	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.127000	0.10547	-1.622000	0.01560	-1.685000	0.00733	ATT		TCGA-IB-7651-01A-11D-2154-08	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	1	0	1	38	151	0	36	1	5.026881e-01	4	4	0	36	2		0	0	0	0	0	2	1	1	38	147	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF430	80264	broad.mit.edu	37	19	21240602	21240602	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21240602A>C	ENST00000261560.5	+	5	1669	c.1488A>C	c.(1486-1488)caA>caC	p.Q496H	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430			23					CTTTTAACCAATTCTCAAACC	0.363000																								0							SO:0001583	missense			ENST00000261560.5	1	0	hg19	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.881327	0.00532	.	.	ENSG00000118620	ENST00000261560	T	0.60920	0.15	1.0	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35913	0.0948	L	0.35644	1.08	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.23261	-1.0193	9	0.12103	T	0.63	.	2.1703	0.03847	0.2537:0.0:0.319:0.4272	.	495;496	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	H	496	ENSP00000261560:Q496H	ENSP00000261560:Q496H	Q	+	3	2	ZNF430	21032442	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.943000	0.00329	-0.629000	0.05575	-0.652000	0.03908	CAA		TCGA-IB-7651-01A-11D-2154-08	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	1	0	1	39	169	0	45	1	7.997599e-01	2	13	0	45	2		0	0	0	0	0	2	1	1	39	165	0	45	2								-3.506479	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF708	7562	broad.mit.edu	37	19	21476148	21476148	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476148G>T	ENST00000356929.3	-	4	1817	c.1620C>A	c.(1618-1620)gcC>gcA	p.A540A		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708			32					ACTGGTTAAAGGCTTTGCCAC	0.348000																								0							SO:0001819	synonymous_variant			ENST00000356929.3	1	0	hg19	CCDS32980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	0	0	1	58	304	0	90	0	1.883700e-01	0	5	0	90	2		0	0	0	0	0	2	1	1	57	296	0	88	2								-2.342866	0	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF708	7562	broad.mit.edu	37	19	21476283	21476283	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476283C>T	ENST00000356929.3	-	4	1682	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708			32					TATGAATTATCTTATGTGTAG	0.333000																								0							SO:0001819	synonymous_variant			ENST00000356929.3	1	0	hg19	CCDS32980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	1	0	0	75	248	0	78	0	1.385784e-01	0	3	0	78	2		0	0	0	0	0	2	1	1	74	243	0	78	2								-4.469667	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF708	7562	broad.mit.edu	37	19	21476977	21476977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476977G>A	ENST00000356929.3	-	4	988	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708			32					AAGGTTTGAGGACCGGTTAAA	0.358000																								0							SO:0001583	missense			ENST00000356929.3	1	1	hg19	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.758436	0.00084	.	.	ENSG00000182141	ENST00000356929	T	0.08008	3.14	1.05	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	M	0.62723	1.935	0.09310	N	1	B	0.23540	0.087	B	0.20184	0.028	T	0.49214	-0.8963	9	0.09843	T	0.71	.	0.621	0.00778	0.1875:0.3287:0.2088:0.2751	.	264	P17019	ZN708_HUMAN	F	264	ENSP00000349401:S264F	ENSP00000349401:S264F	S	-	2	0	ZNF708	21268817	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.742000	0.01835	-1.500000	0.01819	-1.523000	0.00931	TCC		TCGA-IB-7651-01A-11D-2154-08	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	1	0	0	29	302	0	78	0	1.594806e-01	0	8	0	78	2		0	0	0	0	0	2	1	1	26	294	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.720000	1.000000	1.000000	0.955912	0.990000	1	8.700000e-01	1
ZNF708	7562	broad.mit.edu	37	19	21492088	21492088	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21492088G>T	ENST00000356929.3	-	3	383	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708			32					TCATATTCCAGGGCTCTTTTC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000356929.3	1	1	hg19	CCDS32980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	1	0	1	99	635	0	169	1	4.514261e-01	2	9	0	169	2		0	0	0	0	0	2	1	1	97	613	0	167	2								-2.841673	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF493	284443	broad.mit.edu	37	19	21605913	21605913	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21605913G>T	ENST00000355504.4	+	2	334	c.68G>T	c.(67-69)aGc>aTc	p.S23I	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S151I	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493			30					ACTACCCAGAGCAAAATATTT	0.284000																								0							SO:0001583	missense			ENST00000355504.4	1	1	hg19	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.96	1.795162	0.31777	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.09817	3.21;2.94	0.916	0.916	0.19373	.	.	.	.	.	T	0.22085	0.0532	M	0.82323	2.585	0.24499	N	0.994266	B;D	0.53151	0.246;0.958	B;P	0.51229	0.064;0.663	T	0.08351	-1.0726	9	0.72032	D	0.01	.	7.1683	0.25704	0.0:0.0:1.0:0.0	.	23;151	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	I	151;23	ENSP00000376110:S151I;ENSP00000347691:S23I	ENSP00000347691:S23I	S	+	2	0	ZNF493	21397753	0.000000	0.05858	0.212000	0.23672	0.213000	0.24496	-3.047000	0.00630	0.300000	0.22699	0.305000	0.20034	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	1	0	1	91	386	0	98	0	3.721294e-02	0	2	0	98	2		0	0	0	0	0	2	1	1	90	375	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF429	353088	broad.mit.edu	37	19	21719209	21719209	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21719209A>C	ENST00000358491.4	+	4	562	c.354A>C	c.(352-354)aaA>aaC	p.K118N	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429			34					AAGGCTATAAAACTGTAGGTG	0.343000																								0							SO:0001583	missense			ENST00000358491.4	1	1	hg19	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689066	0.29962	.	.	ENSG00000197013	ENST00000358491	T	0.07216	3.21	1.17	-0.284	0.12870	.	.	.	.	.	T	0.14874	0.0359	M	0.84948	2.725	0.09310	N	1	D	0.60575	0.988	P	0.49140	0.601	T	0.14200	-1.0481	9	0.56958	D	0.05	.	1.5337	0.02541	0.4502:0.0:0.2433:0.3065	.	118	Q86V71	ZN429_HUMAN	N	118	ENSP00000351280:K118N	ENSP00000351280:K118N	K	+	3	2	ZNF429	21511049	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	0.100000	0.15231	-0.287000	0.09064	0.248000	0.18094	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	1	0	1	35	201	0	63	0	2.276498e-01	1	5	0	63	2		0	0	0	0	0	2	1	1	35	195	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
ZNF429	353088	broad.mit.edu	37	19	21720670	21720670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21720670C>T	ENST00000358491.4	+	4	2023	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429			34					TTAATCGGTCCTCAAGACTTA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000358491.4	1	0	hg19	CCDS42537.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	1	0	1	76	254	0	71	0	7.069598e-01	0	10	0	71	2		0	0	0	0	0	2	1	1	72	242	0	70	2								-3.091725	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF100	163227	broad.mit.edu	37	19	21909803	21909803	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21909803A>C	ENST00000358296.6	-	5	1509	c.1311T>G	c.(1309-1311)gcT>gcG	p.A437A	ZNF100_ENST00000305570.6_Silent_p.A373A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100			21					ACTCATTAAAAGCTTTGCCAC	0.423000																								0							SO:0001819	synonymous_variant			ENST00000358296.6	1	0	hg19	CCDS42538.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	1	0	1	86	363	0	76	0	3.272997e-01	0	6	0	76	2		0	0	0	0	0	2	1	1	84	354	0	75	2								-2.824950	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF100	163227	broad.mit.edu	37	19	21910465	21910465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21910465G>A	ENST00000358296.6	-	5	847	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100			21					AGGTGTAAAAGCATGCAAAAT	0.303000																								0							SO:0001583	missense			ENST00000358296.6	1	1	hg19	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	2.310	-0.358056	0.05138	.	.	ENSG00000197020	ENST00000358296	T	0.01005	5.45	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00784	0.0026	L	0.28649	0.875	0.09310	N	1	B;B	0.21688	0.043;0.059	B;B	0.27715	0.039;0.082	T	0.46555	-0.9183	9	0.08599	T	0.76	.	6.7097	0.23270	0.0:0.0:0.7206:0.2794	.	217;271	Q8IYN0;Q4G131	ZN100_HUMAN;.	F	217	ENSP00000351042:L217F	ENSP00000351042:L217F	L	-	1	0	ZNF100	21702305	.	.	0.006000	0.13384	0.171000	0.22731	.	.	-0.656000	0.05380	0.174000	0.16983	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	1	0	1	42	220	0	48	0	4.991187e-01	1	9	0	48	2		0	0	0	0	0	2	1	1	42	218	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF43	7594	broad.mit.edu	37	19	21990912	21990912	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21990912T>A	ENST00000354959.4	-	4	2096	c.1927A>T	c.(1927-1929)Att>Ttt	p.I643F	ZNF43_ENST00000594012.1_Missense_Mutation_p.I637F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F|ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43			51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)			TCAGTGTGAATTATCTTATGT	0.353000																								0							SO:0001583	missense			ENST00000354959.4	1	1	hg19	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	t	8.737	0.918085	0.17982	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.18338	2.22	1.21	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30039	0.0752	L	0.54908	1.71	0.29620	N	0.846279	D	0.69078	0.997	D	0.76071	0.987	T	0.11299	-1.0593	9	0.66056	D	0.02	.	4.7412	0.13013	0.277:0.0:0.0:0.723	.	643	P17038	ZNF43_HUMAN	F	642;643	ENSP00000347045:I643F	ENSP00000347045:I643F	I	-	1	0	ZNF43	21782752	0.001000	0.12720	0.050000	0.19076	0.925000	0.55904	0.826000	0.27407	0.808000	0.34231	0.254000	0.18369	ATT		TCGA-IB-7651-01A-11D-2154-08	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	1	0	0	13	279	0	54	0	1.779981e-01	0	16	0	54	2		0	0	0	0	0	2	1	9.994893e-01	13	272	0	54	2								-15.080160	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.550000	0.300000	1.000000	0.520000	0.591659	0.550000	0	4.100000e-01	7.600000e-01
ZNF43	7594	broad.mit.edu	37	19	21991035	21991035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21991035C>T	ENST00000354959.4	-	4	1973	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	ZNF43_ENST00000594012.1_Missense_Mutation_p.A596T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T|ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43			51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)			TGGGTAAAAGCTTTGCCACAT	0.353000																								0							SO:0001583	missense			ENST00000354959.4	1	1	hg19	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	c	11.18	1.564185	0.27915	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.16897	2.31	1.76	0.623	0.17654	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.11560	0.145	0.23712	N	0.997041	B	0.33022	0.394	B	0.33121	0.158	T	0.29549	-1.0008	9	0.39692	T	0.17	.	0.8388	0.01145	0.2283:0.3779:0.2261:0.1677	.	602	P17038	ZNF43_HUMAN	T	601;602	ENSP00000347045:A602T	ENSP00000347045:A602T	A	-	1	0	ZNF43	21782875	0.000000	0.05858	0.066000	0.19879	0.802000	0.45316	-2.249000	0.01188	0.081000	0.16988	0.305000	0.20034	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	1	0	1	42	205	0	54	0	5.325480e-01	1	9	0	54	2		0	0	0	0	0	2	1	1	41	203	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF208	7757	broad.mit.edu	37	19	22154655	22154655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22154655C>T	ENST00000397126.4	-	4	3329	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208			113		all_lung(12;0.0961)|Lung NSC(12;0.103)			TTGCCACATTCTTCACATTTG	0.453000																								0							SO:0001583	missense			ENST00000397126.4	1	1	hg19	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638835	0.29157	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07327	3.2	2.59	-0.806	0.10875	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	.	.	.	0.09310	N	1	P	0.40515	0.719	B	0.34038	0.174	T	0.35475	-0.9787	8	0.48119	T	0.1	.	7.6796	0.28505	0.0:0.6902:0.1824:0.1274	.	933	O43345	ZN208_HUMAN	K	1061;933	ENSP00000380315:E1061K	ENSP00000380315:E1061K	E	-	1	0	ZNF208	21946495	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	-0.696000	0.05104	0.119000	0.18210	0.297000	0.19635	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	1	0	1	132	579	0	132	0	0	0	1	0	132	2		0	0	0	0	0	2	1	1	127	563	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF208	7757	broad.mit.edu	37	19	22155498	22155498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22155498C>T	ENST00000397126.4	-	4	2486	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208			113		all_lung(12;0.0961)|Lung NSC(12;0.103)			CCACATTCTTCACATTTGTAG	0.363000																								0							SO:0001583	missense			ENST00000397126.4	1	1	hg19	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.909089	0.00508	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16597	2.33	2.28	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	.	.	.	0.09310	N	1	P	0.41498	0.752	P	0.46917	0.531	T	0.13791	-1.0496	8	0.07030	T	0.85	.	3.7366	0.08512	0.0:0.163:0.4103:0.4267	.	680	O43345	ZN208_HUMAN	K	780;680	ENSP00000380315:E780K	ENSP00000380315:E780K	E	-	1	0	ZNF208	21947338	0.000000	0.05858	0.352000	0.25734	0.210000	0.24377	-4.535000	0.00219	-0.123000	0.11745	0.280000	0.19369	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	1	0	0	23	258	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	9.999988e-01	21	239	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.640000	1.000000	1.000000	0.924482	0.990000	1	8.000000e-01	1
ZNF208	7757	broad.mit.edu	37	19	22156630	22156630	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22156630A>G	ENST00000397126.4	-	4	1354	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208			113		all_lung(12;0.0961)|Lung NSC(12;0.103)			AACCTTTGCCACATTCTTCAC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000397126.4	1	1	hg19	CCDS54240.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	1	0	1	40	279	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	38	262	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999691	0.990000	1	9.900000e-01	1
DOT1L	84444	broad.mit.edu	37	19	2220181	2220181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2220181C>T	ENST00000398665.3	+	23	2802	c.2766C>T	c.(2764-2766)gcC>gcT	p.A922A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase			42		Hepatocellular(1079;0.137)			GTGCTAATGCCCACGGTGCTG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000398665.3	1	1	hg19	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411334	0.42817	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.62	2.41	0.29592	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	-2.577	3.6293	0.08126	0.1783:0.5458:0.0:0.2758	.	.	.	.	L	709	.	.	P	+	2	0	DOT1L	2171181	1.000000	0.71417	0.190000	0.23270	0.917000	0.54804	1.439000	0.35013	0.366000	0.24427	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	1	0	0	12	200	0	41	0	1.877353e-01	0	13	0	41	2		0	0	0	0	0	2	1	9.991502e-01	12	198	0	41	2								-15.216440	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.700000	0.380000	1.000000	1.000000	0.721923	0.700000	0	5.200000e-01	9.700000e-01
DOT1L	84444	broad.mit.edu	37	19	2226809	2226809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226809C>T	ENST00000398665.3	+	27	4325	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase			42		Hepatocellular(1079;0.137)			TTCATCTCTGCGGCGGCCGTG	0.746000																								0							SO:0001583	missense			ENST00000398665.3	1	1	hg19	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188769	0.57909	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.41400	1.41;1.0	4.42	4.42	0.53409	.	0.000000	0.49305	D	0.000148	T	0.61800	0.2376	M	0.64997	1.995	0.31257	N	0.693341	D;D	0.89917	1.0;0.999	D;D	0.78314	0.962;0.991	T	0.68530	-0.5384	10	0.87932	D	0	-12.0797	16.0032	0.80310	0.0:1.0:0.0:0.0	.	1430;1430	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	V	1430;1430;310	ENSP00000381657:A1430V;ENSP00000407411:A310V	ENSP00000221482:A1430V	A	+	2	0	DOT1L	2177809	0.999000	0.42202	0.626000	0.29213	0.026000	0.11368	6.321000	0.72881	2.003000	0.58678	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	1	0	0	46	194	0	30	0	1.720556e-01	0	4	0	30	2		0	0	0	0	0	2	1	1	44	191	0	29	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOT1L	84444	broad.mit.edu	37	19	2226885	2226885	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226885G>A	ENST00000398665.3	+	27	4401	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase			42		Hepatocellular(1079;0.137)			GCGGCGCGGCGTCCTCCGCCC	0.756000																								0							SO:0001819	synonymous_variant			ENST00000398665.3	0	1	hg19	CCDS42460.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	1	0	0	39	126	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	1	37	124	0	9	2								-20.000000	1	0	114444	1	22	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF257	113835	broad.mit.edu	37	19	22270975	22270975	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22270975G>T	ENST00000594947.1	+	4	567	c.423G>T	c.(421-423)caG>caT	p.Q141H	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257			6		all_lung(12;0.0961)|Lung NSC(12;0.103)			TAACTACCCAGAGCAAAATGT	0.313000																								0							SO:0001583	missense			ENST00000594947.1	1	1	hg19	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	3.686	-0.064607	0.07273	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.926	-0.301	0.12800	.	.	.	.	.	T	0.27169	0.0666	L	0.39085	1.19	0.09310	N	1	B	0.21520	0.057	B	0.22601	0.04	T	0.24154	-1.0168	8	0.37606	T	0.19	.	2.7022	0.05152	0.4382:0.0:0.5618:0.0	.	141	Q9Y2Q1	ZN257_HUMAN	H	141	.	ENSP00000380312:Q141H	Q	+	3	2	ZNF257	22062815	0.012000	0.17670	0.045000	0.18777	0.427000	0.31564	-0.124000	0.10595	0.308000	0.22923	0.313000	0.20887	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1	1	0	1	44	206	0	49	0	3.246753e-02	0	2	0	49	2		0	0	0	0	0	2	1	1	44	201	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF676	163223	broad.mit.edu	37	19	22363338	22363338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363338T>G	ENST00000397121.2	-	3	1498	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676			67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)			TTCTTCACATTTGTAGGGCTT	0.423000																								0							SO:0001583	missense			ENST00000397121.2	1	1	hg19	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.934	0.356324	0.11239	.	.	ENSG00000196109	ENST00000397121	T	0.58060	0.36	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54351	0.1853	L	0.28740	0.885	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39078	-0.9631	9	0.59425	D	0.04	.	4.4263	0.11505	0.0:0.0:0.3425:0.6574	.	394	Q8N7Q3	ZN676_HUMAN	T	394	ENSP00000380310:K394T	ENSP00000380310:K394T	K	-	2	0	ZNF676	22155178	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-1.058000	0.03482	0.156000	0.19299	0.155000	0.16302	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	1	0	1	67	424	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1	67	393	0	130	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZNF676	163223	broad.mit.edu	37	19	22363492	22363492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363492C>T	ENST00000397121.2	-	3	1344	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676			67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)			AAAGCTTTCCCGCATTCTTCA	0.408000																								0							SO:0001583	missense			ENST00000397121.2	1	1	hg19	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.10	2.137376	0.37728	.	.	ENSG00000196109	ENST00000397121	T	0.01484	4.84	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	M	0.84082	2.675	0.29973	N	0.818377	D	0.89917	1.0	D	0.79784	0.993	T	0.02505	-1.1149	9	0.72032	D	0.01	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	343	Q8N7Q3	ZN676_HUMAN	R	343	ENSP00000380310:G343R	ENSP00000380310:G343R	G	-	1	0	ZNF676	22155332	0.057000	0.20700	0.002000	0.10522	0.002000	0.02628	0.660000	0.25009	0.192000	0.20272	0.195000	0.17529	GGG		TCGA-IB-7651-01A-11D-2154-08	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	1	0	1	75	507	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	72	350	0	87	2								-2.540644	1	1	121300	8	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ZNF676	163223	broad.mit.edu	37	19	22363697	22363697	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363697A>G	ENST00000397121.2	-	3	1139	c.822T>C	c.(820-822)atT>atC	p.I274I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676			67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)			CTTCAGCATGAATTGCCTTAT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000397121.2	1	1	hg19	CCDS42539.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	1	0	1	80	370	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	75	329	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SF3A2	8175	broad.mit.edu	37	19	2247848	2247848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2247848C>A	ENST00000221494.5	+	9	1116	c.698C>A	c.(697-699)cCt>cAt	p.P233H	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa			4		Hepatocellular(1079;0.137)			GTGAAGCGGCCTCCACCCCCG	0.677000																								0							SO:0001583	missense			ENST00000221494.5	1	1	hg19	CCDS12084.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724207	0.68959	.	.	ENSG00000104897	ENST00000221494	T	0.49720	0.77	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.73380	0.98	T	0.61821	-0.6984	10	0.59425	D	0.04	-13.467	16.1438	0.81548	0.0:1.0:0.0:0.0	.	233	Q15428	SF3A2_HUMAN	H	233	ENSP00000221494:P233H	ENSP00000221494:P233H	P	+	2	0	SF3A2	2198848	0.996000	0.38824	0.997000	0.53966	0.769000	0.43574	4.243000	0.58721	2.145000	0.66743	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3	1	0	0	37	340	0	48	1	9.999990e-01	22	174	0	48	2		0	0	0	0	0	2	1	1	37	335	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.987309	0.990000	1	9.900000e-01	1
AMH	268	broad.mit.edu	37	19	2249555	2249555	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2249555C>T	ENST00000221496.4	+	1	246	c.224C>T	c.(223-225)gCt>gTt	p.A75V	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone			2		Hepatocellular(1079;0.137)			GTGGTGGGGGCTCTAAGCGCC	0.701000									Persistant Mullerian Duct Syndrome (type I and II)															0							SO:0001583	missense	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	ENST00000221496.4	0	1	hg19	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307984	0.01342	.	.	ENSG00000104899	ENST00000221496	D	0.83419	-1.72	3.75	-1.67	0.08238	.	1.190810	0.06312	N	0.702866	T	0.66076	0.2753	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	10	0.34782	T	0.22	-1.1031	6.9978	0.24793	0.0:0.5399:0.2022:0.2578	.	75	P03971	MIS_HUMAN	V	75	ENSP00000221496:A75V	ENSP00000221496:A75V	A	+	2	0	AMH	2200555	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	-1.091000	0.03065	-1.598000	0.00824	GCT		TCGA-IB-7651-01A-11D-2154-08	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	1	0	0	13	51	0	9	0	0	0	1	0	9	2		0	0	0	0	0	2	1	9.997251e-01	13	51	0	9	2								-19.999990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999631	0.990000	1	9.900000e-01	1
JSRP1	126306	broad.mit.edu	37	19	2255205	2255205	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2255205C>A	ENST00000300961.6	-	2	173	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	JSRP1_ENST00000586471.2_Splice_Site_p.A37S	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1			6					ACAAGGGTACCTGAAGCCCTG	0.652000																								0							SO:0001630	splice_region_variant			ENST00000300961.6	1	0	hg19	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393024	0.42410	.	.	ENSG00000167476	ENST00000300961	T	0.18657	2.2	3.63	3.63	0.41609	.	1.872170	0.03542	N	0.224035	T	0.16300	0.0392	N	0.24115	0.695	0.26197	N	0.979504	B	0.30281	0.275	B	0.22601	0.04	T	0.11641	-1.0579	9	.	.	.	.	10.9866	0.47526	0.0:1.0:0.0:0.0	.	37	Q96MG2	JSPR1_HUMAN	S	37	ENSP00000300961:A37S	.	A	-	1	0	JSRP1	2206205	0.992000	0.36948	0.300000	0.25030	0.278000	0.26855	3.501000	0.53325	2.022000	0.59522	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	1	0	0	25	128	0	29	0	9.731540e-01	0	33	0	29	2		0	0	0	0	0	2	1	9.999999e-01	25	127	0	29	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999941	0.990000	1	9.900000e-01	1
C19orf35	374872	broad.mit.edu	37	19	2276371	2276371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2276371C>T	ENST00000342063.3	-	4	823	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35			8					CAGGGCGCCCCGGGCAGTGTG	0.716000																								0							SO:0001583	missense			ENST00000342063.3	1	1	hg19	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533116	0.13188	.	.	ENSG00000188305	ENST00000342063	T	0.13901	2.55	2.96	2.96	0.34315	.	.	.	.	.	T	0.06600	0.0169	N	0.14661	0.345	0.09310	N	1	P	0.36599	0.56	B	0.25140	0.058	T	0.28459	-1.0043	9	0.22706	T	0.39	.	10.6612	0.45704	0.0:1.0:0.0:0.0	.	244	Q6ZS72	CS035_HUMAN	R	244	ENSP00000345102:G244R	ENSP00000345102:G244R	G	-	1	0	C19orf35	2227371	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-0.572000	0.05881	1.500000	0.48636	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	1	0	1	18	81	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	9.999886e-01	18	79	0	20	2								-20.000000	1	1	118318	15	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999862	0.990000	1	9.900000e-01	1
C19orf35	374872	broad.mit.edu	37	19	2280862	2280862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2280862C>T	ENST00000342063.3	-	2	162	c.69G>A	c.(67-69)acG>acA	p.T23T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35			8					GGTTGCTATACGTGGGCTGAG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000342063.3	1	1	hg19	CCDS12087.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	1	0	0	32	112	0	17	0	6.311334e-01	0	9	0	17	2		0	0	0	0	0	2	1	1	31	111	0	16	2								-20.000000	1	1	121060	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF492	57615	broad.mit.edu	37	19	22817139	22817139	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22817139G>A	ENST00000456783.2	+	0	14					NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492			21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)			TTTGTCTCTCGCTGCAGTCGG	0.602000																								0											ENST00000456783.2	0	1	hg19	CCDS46032.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	0	0	0	30	125	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	28	119	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF492	57615	broad.mit.edu	37	19	22847667	22847667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847667G>A	ENST00000456783.2	+	4	1440	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492			21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)			GAAGAATGTGGCAAAGCTTTT	0.383000																								0							SO:0001583	missense			ENST00000456783.2	1	1	hg19	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	14.75	2.628231	0.46944	.	.	ENSG00000229676	ENST00000456783	T	0.01430	4.9	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	L	0.45051	1.395	0.38026	D	0.935016	D	0.89917	1.0	D	0.97110	1.0	T	0.50759	-0.8790	9	0.66056	D	0.02	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	399	Q9P255	ZN492_HUMAN	D	399	ENSP00000413660:G399D	ENSP00000413660:G399D	G	+	2	0	ZNF492	22639507	0.988000	0.35896	0.076000	0.20297	0.077000	0.17291	2.129000	0.42055	0.269000	0.21961	0.274000	0.19336	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	0	0	1	38	295	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	38	277	0	83	2								-20.000000	1	0	121074	3	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.980000	1.000000	1.000000	0.998279	0.990000	1	9.900000e-01	1
ZNF492	57615	broad.mit.edu	37	19	22847718	22847718	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847718C>A	ENST00000456783.2	+	4	1491	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492			21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)			ATAATTCATACTGGAGAGAAA	0.378000																								0							SO:0001583	missense			ENST00000456783.2	1	1	hg19	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.747685	0.49257	.	.	ENSG00000229676	ENST00000456783	T	0.26067	1.76	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34803	0.0910	L	0.53729	1.69	0.32544	N	0.533216	P	0.47545	0.897	P	0.55303	0.773	T	0.46470	-0.9189	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	416	Q9P255	ZN492_HUMAN	N	416	ENSP00000413660:T416N	ENSP00000413660:T416N	T	+	2	0	ZNF492	22639558	0.714000	0.27936	0.069000	0.20011	0.069000	0.16628	1.214000	0.32419	0.269000	0.21961	0.274000	0.19336	ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	0	0	0	23	309	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.999937e-01	23	243	0	90	2								-7.375150	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.840000	0.540000	1.000000	1.000000	0.838053	0.840000	0	6.800000e-01	1
LINGO3	645191	broad.mit.edu	37	19	2290688	2290688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2290688A>G	ENST00000585527.1	-	1	1335	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3			2					ACGCTGCACGATCCACAGCAG	0.697000																								0							SO:0001583	missense			ENST00000585527.1	0	1	hg19	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	a	15.84	2.950895	0.53186	.	.	ENSG00000220008	ENST00000404279	T	0.57107	0.42	4.3	4.3	0.51218	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.56645	0.1999	M	0.78801	2.425	0.58432	D	0.999999	B	0.20671	0.047	B	0.28385	0.089	T	0.61197	-0.7111	9	0.87932	D	0	.	12.5973	0.56476	1.0:0.0:0.0:0.0	.	363	P0C6S8	LIGO3_HUMAN	T	363	ENSP00000384979:I363T	ENSP00000384979:I363T	I	-	2	0	LINGO3	2241688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.933000	0.92911	1.576000	0.49790	0.379000	0.24179	ATC		TCGA-IB-7651-01A-11D-2154-08	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	1	0	0	6	124	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.635547e-01	6	121	0	30	2								-12.039470	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.600000	0.240000	1.000000	1.000000	0.632106	0.600000	0	3.900000e-01	9.300000e-01
ZNF99	7652	broad.mit.edu	37	19	22941527	22941527	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941527T>G	ENST00000596209.1	-	4	1274	c.1184A>C	c.(1183-1185)aAa>aCa	p.K395T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K304T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99			124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)			TTTGTAGGGTTTCTGTCCAGT	0.363000																								0							SO:0001583	missense			ENST00000596209.1	1	1	hg19	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.39	1.924104	0.34002	.	.	ENSG00000213973	ENST00000397104	T	0.24908	1.83	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40595	0.1123	M	0.76727	2.345	0.32529	N	0.535216	D	0.53462	0.96	P	0.57204	0.815	T	0.53107	-0.8485	9	0.87932	D	0	.	7.4893	0.27452	0.0:0.0:0.0:1.0	.	304	A8MXY4	ZNF99_HUMAN	T	304	ENSP00000380293:K304T	ENSP00000380293:K304T	K	-	2	0	ZNF99	22733367	0.155000	0.22806	0.025000	0.17156	0.165000	0.22458	-0.043000	0.12043	0.566000	0.29273	0.325000	0.21440	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	1	0	1	71	283	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	68	261	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF99	7652	broad.mit.edu	37	19	22941668	22941668	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941668T>G	ENST00000596209.1	-	4	1133	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K257T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99			124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)			GCTAAAAGCTTTGCCACATTC	0.373000																								0							SO:0001583	missense			ENST00000596209.1	0	1	hg19	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	11.91	1.778440	0.31502	.	.	ENSG00000213973	ENST00000397104	T	0.27890	1.64	1.52	0.405	0.16361	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49525	0.1562	M	0.81802	2.56	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33854	-0.9852	9	0.66056	D	0.02	.	2.9213	0.05770	0.0:0.1716:0.2563:0.572	.	257	A8MXY4	ZNF99_HUMAN	T	257	ENSP00000380293:K257T	ENSP00000380293:K257T	K	-	2	0	ZNF99	22733508	0.009000	0.17119	0.001000	0.08648	0.095000	0.18619	1.634000	0.37123	-0.076000	0.12775	0.370000	0.22315	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	0	0	0	14	393	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	9.995524e-01	13	358	0	98	2								-14.468270	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.420000	0.240000	1.000000	0.400000	0.476274	0.420000	0	3.200000e-01	5.900000e-01
SPPL2B	56928	broad.mit.edu	37	19	2334702	2334702	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2334702G>A	ENST00000452401.2	+	0	248							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B	p.P56P(1)				Hepatocellular(1079;0.137)			CCCATCTTCCGCACGACCTCA	0.677000																								1	Substitution - coding silent(1)										ENST00000452401.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	26	91	0	24	1	9.999992e-01	19	71	0	24	2		0	0	0	0	0	2	1	1	25	88	0	24	2								-19.041230	1	1	120764	2	22	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF91	7644	broad.mit.edu	37	19	23544948	23544948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23544948G>T	ENST00000300619.7	-	4	1038	c.833C>A	c.(832-834)tCc>tAc	p.S278Y	ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)			TAGGGTTGAGGACCATAGAAA	0.383000																								0							SO:0001583	missense			ENST00000300619.7	1	1	hg19	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.904201	0.00512	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07908	3.15;3.15	1.62	-3.24	0.05094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	M	0.67569	2.06	0.09310	N	1	B;B	0.28998	0.193;0.23	B;B	0.16722	0.009;0.016	T	0.51826	-0.8656	9	0.02654	T	1	.	0.4085	0.00437	0.1996:0.2495:0.2755:0.2754	.	246;278	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	278;246	ENSP00000300619:S278Y;ENSP00000380272:S246Y	ENSP00000300619:S278Y	S	-	2	0	ZNF91	23336788	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.340000	0.02650	-2.012000	0.00950	-1.252000	0.01501	TCC		TCGA-IB-7651-01A-11D-2154-08	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	1	0	1	87	456	0	106	1	8.695177e-01	3	18	0	106	2		0	0	0	0	0	2	1	1	84	445	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF91	7644	broad.mit.edu	37	19	23545140	23545140	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545140T>G	ENST00000300619.7	-	4	846	c.641A>C	c.(640-642)gAa>gCa	p.E214A	ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)			TTTTTCACATTCTTTACATTT	0.328000																								0							SO:0001583	missense			ENST00000300619.7	1	1	hg19	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	6.550	0.469727	0.12461	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16897	2.31;2.31	1.64	0.397	0.16314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24470	0.0593	M	0.88377	2.95	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.30090	-0.9990	9	0.66056	D	0.02	.	6.3699	0.21475	0.0:0.0:0.2523:0.7477	.	182;214	Q05481-2;Q05481	.;ZNF91_HUMAN	A	214;182	ENSP00000300619:E214A;ENSP00000380272:E182A	ENSP00000300619:E214A	E	-	2	0	ZNF91	23336980	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	0.261000	0.18442	-0.159000	0.11021	0.147000	0.16070	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	0	0	0	11	283	0	57	1	9.864925e-02	2	11	0	57	2		0	0	0	0	0	2	1	9.982249e-01	10	278	0	57	2								-12.500230	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.240000	1.000000	0.440000	0.515977	0.470000	0	3.400000e-01	6.600000e-01
ZNF91	7644	broad.mit.edu	37	19	23545395	23545395	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545395A>G	ENST00000300619.7	-	4	591	c.386T>C	c.(385-387)gTg>gCg	p.V129A	ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)			ACACTCATCCACACTTTTACA	0.348000																								0							SO:0001583	missense			ENST00000300619.7	1	1	hg19	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.140824	0.01728	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.44;3.36	0.987	0.987	0.19790	.	.	.	.	.	T	0.16257	0.0391	M	0.87269	2.87	0.09310	N	1	B;D	0.69078	0.178;0.997	B;D	0.63283	0.108;0.913	T	0.29882	-0.9997	9	0.05525	T	0.97	.	4.0615	0.09841	1.0:0.0:0.0:0.0	.	97;129	Q05481-2;Q05481	.;ZNF91_HUMAN	A	129;97	ENSP00000300619:V129A;ENSP00000380272:V97A	ENSP00000300619:V129A	V	-	2	0	ZNF91	23337235	0.001000	0.12720	0.017000	0.16124	0.336000	0.28762	1.320000	0.33666	0.368000	0.24481	0.147000	0.16070	GTG		TCGA-IB-7651-01A-11D-2154-08	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	0	0	1	69	386	0	112	1	8.056873e-01	4	15	0	112	2		0	0	0	0	0	2	1	1	67	382	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF675	171392	broad.mit.edu	37	19	23836530	23836530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23836530C>T	ENST00000359788.4	-	4	1373	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675			27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)			AAAAGCTTTGCCACATTCTTT	0.393000																								0							SO:0001583	missense			ENST00000359788.4	1	1	hg19	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	12.56	1.975174	0.34848	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.21324	0.655	0.30822	N	0.737711	P	0.51791	0.948	P	0.52159	0.691	T	0.22347	-1.0219	9	0.87932	D	0	.	8.3949	0.32550	0.0:1.0:0.0:0.0	.	402	Q8TD23	ZN675_HUMAN	D	402	ENSP00000352836:G402D	ENSP00000352836:G402D	G	-	2	0	ZNF675	23628370	0.046000	0.20272	0.076000	0.20297	0.071000	0.16799	0.091000	0.15046	0.482000	0.27582	0.484000	0.47621	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	0	0	0	14	339	0	61	0	2.080668e-01	0	20	0	61	2		0	0	0	0	0	2	1	9.997216e-01	14	330	0	61	2								-4.076705	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.490000	0.270000	1.000000	0.460000	0.535591	0.490000	0	3.700000e-01	6.700000e-01
ZNF675	171392	broad.mit.edu	37	19	23837503	23837503	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23837503A>C	ENST00000359788.4	-	4	400	c.232T>G	c.(232-234)Tgt>Ggt	p.C78G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675			27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)			AAATGAGAACACATTACTGAA	0.289000																								0							SO:0001583	missense			ENST00000359788.4	1	1	hg19	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	5.278	0.236659	0.10023	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	.	.	.	.	.	T	0.10423	0.0255	M	0.76170	2.325	0.19575	N	0.999961	B	0.17667	0.023	B	0.20577	0.03	T	0.33163	-0.9879	8	0.25751	T	0.34	.	.	.	.	.	78	Q8TD23	ZN675_HUMAN	G	78	ENSP00000352836:C78G	ENSP00000352836:C78G	C	-	1	0	ZNF675	23629343	0.312000	0.24545	0.016000	0.15963	0.014000	0.08584	0.397000	0.20883	0.407000	0.25591	0.397000	0.26171	TGT		TCGA-IB-7651-01A-11D-2154-08	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	1	0	0	18	174	0	39	0	4.959091e-01	0	17	0	39	2		0	0	0	0	0	2	1	9.999840e-01	18	171	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.700000	1.000000	1.000000	0.961499	0.990000	1	8.900000e-01	1
ZNF675	171392	broad.mit.edu	37	19	23845935	23845935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23845935G>A	ENST00000359788.4	-	2	197	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675			27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)			GAATTCTATGGCCACATCCCT	0.393000																								0							SO:0001583	missense			ENST00000359788.4	1	1	hg19	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.561883	0.27915	.	.	ENSG00000197372	ENST00000359788	T	0.03301	3.98	0.926	0.926	0.19430	Krueppel-associated box (4);	.	.	.	.	T	0.08268	0.0206	M	0.83312	2.635	0.09310	N	0.999999	P	0.35456	0.502	B	0.41619	0.361	T	0.18304	-1.0341	9	0.51188	T	0.08	.	4.9893	0.14205	0.0:0.0:1.0:0.0	.	10	Q8TD23	ZN675_HUMAN	V	10	ENSP00000352836:A10V	ENSP00000352836:A10V	A	-	2	0	ZNF675	23637775	0.198000	0.23374	0.049000	0.19019	0.050000	0.14768	1.691000	0.37721	0.308000	0.22923	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	1	0	1	125	591	0	160	0	4.207468e-01	0	8	0	160	2		0	0	0	0	0	2	1	1	123	569	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS9	360200	broad.mit.edu	37	19	2389901	2389901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2389901G>A	ENST00000332578.3	+	1	118	c.118G>A	c.(118-120)Gtc>Atc	p.V40I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9			29					CAGCCTTGTCGTCCTCACCCT	0.592000																								0							SO:0001583	missense			ENST00000332578.3	1	1	hg19	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	2.258	-0.369927	0.05069	4.54E-4	0.0	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87571	-2.27	4.39	-8.77	0.00827	.	2.144020	0.02082	N	0.052415	T	0.67730	0.2924	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.64618	-0.6365	10	0.02654	T	1	.	5.5426	0.17045	0.1342:0.1864:0.5873:0.0922	.	40;40	Q7Z410;E7EMP4	TMPS9_HUMAN;.	I	40	ENSP00000330264:V40I	ENSP00000330264:V40I	V	+	1	0	TMPRSS9	2340901	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.757000	0.01811	-3.156000	0.00229	-1.459000	0.01027	GTC		TCGA-IB-7651-01A-11D-2154-08	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	1	0	1	54	315	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	54	308	0	90	2								-19.999990	1	1	121412	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF681	148213	broad.mit.edu	37	19	23927387	23927387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23927387G>A	ENST00000402377.3	-	4	1106	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681			21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)			AAGGTGTGAGGACTGGTTGAA	0.388000																								0							SO:0001583	missense			ENST00000402377.3	1	1	hg19	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.263283	0.01445	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.16196	2.36;2.36	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	M	0.66506	2.035	0.09310	N	1	B	0.25850	0.136	B	0.24394	0.053	T	0.26189	-1.0110	9	0.25106	T	0.35	.	4.1271	0.10133	0.0:0.0:0.5976:0.4023	.	322	Q96N22	ZN681_HUMAN	F	322;253	ENSP00000384000:S322F;ENSP00000378783:S253F	ENSP00000378783:S253F	S	-	2	0	ZNF681	23719227	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-6.620000	0.00059	0.798000	0.33994	0.313000	0.20887	TCC		TCGA-IB-7651-01A-11D-2154-08	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	1	0	1	58	301	0	82	0	2.693941e-02	0	2	0	82	2		0	0	0	0	0	2	1	1	56	286	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS9	360200	broad.mit.edu	37	19	2399065	2399065	+	Nonsense_Mutation	SNP	C	C	T	rs146863718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2399065C>T	ENST00000332578.3	+	3	286	c.286C>T	c.(286-288)Cga>Tga	p.R96*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9			29					CTTTCTGCTGCGACCCCTCCA	0.642000																								0							SO:0001587	stop_gained			ENST00000332578.3	0	1	hg19	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607283	0.87157	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	.	.	.	4.34	2.08	0.27032	.	1.477610	0.04838	N	0.439921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0588	0.25113	0.0:0.7286:0.1735:0.0979	.	.	.	.	X	130;96	.	ENSP00000330264:R96X	R	+	1	2	TMPRSS9	2350065	0.001000	0.12720	0.034000	0.17996	0.869000	0.49853	1.317000	0.33631	0.372000	0.24591	0.456000	0.33151	CGA		TCGA-IB-7651-01A-11D-2154-08	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	1	0	1	18	99	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	9.999864e-01	18	96	0	21	2								-20.000000	1	1	121406	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999356	0.990000	1	9.900000e-01	1
TMPRSS9	360200	broad.mit.edu	37	19	2405479	2405479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2405479C>T	ENST00000332578.3	+	6	676	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9			29					GAACAAGGAGCACTTCTGTGG	0.617000																								0							SO:0001583	missense			ENST00000332578.3	1	1	hg19	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467424	0.84533	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.60548	0.18	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000112	T	0.70945	0.3282	L	0.49513	1.565	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74836	-0.3529	10	0.87932	D	0	.	15.9549	0.79880	0.0:1.0:0.0:0.0	.	226;260	Q7Z410;E7EMP4	TMPS9_HUMAN;.	Y	260;226	ENSP00000330264:H226Y	ENSP00000330264:H226Y	H	+	1	0	TMPRSS9	2356479	1.000000	0.71417	0.990000	0.47175	0.829000	0.46940	7.628000	0.83189	2.188000	0.69820	0.484000	0.47621	CAC		TCGA-IB-7651-01A-11D-2154-08	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	1	0	1	64	342	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	62	330	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF254	9534	broad.mit.edu	37	19	24289407	24289407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24289407G>A	ENST00000357002.4	+	3	330	c.215G>A	c.(214-216)tGg>tAg	p.W72*	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)			AAAGAGCCCTGGAATATGAAG	0.423000																								0							SO:0001587	stop_gained			ENST00000357002.4	0	1	hg19	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	8.196	0.796989	0.16327	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	72	.	ENSP00000341573:W72X	W	+	2	0	ZNF254	24081247	0.123000	0.22298	0.064000	0.19789	0.065000	0.16274	1.038000	0.30254	0.300000	0.22699	0.305000	0.20034	TGG		TCGA-IB-7651-01A-11D-2154-08	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	1	0	0	56	635	0	145	0	4.407417e-01	0	18	0	145	2		0	0	0	0	0	2	1	1	56	626	0	144	2								-3.142702	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.970000	0.740000	1.000000	1.000000	0.939032	0.970000	1	8.400000e-01	1
LMNB2	84823	broad.mit.edu	37	19	2435154	2435154	+	Missense_Mutation	SNP	G	G	A	rs148936043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2435154G>A	ENST00000582871.1	-	5	726	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	LMNB2_ENST00000325327.3_Missense_Mutation_p.R234W	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2			18		Hepatocellular(1079;0.137)			TGCCGCCGCCGCGTCTCCCGC	0.682000																								0							SO:0001583	missense			ENST00000582871.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.95	3.731514	0.69189	0.0	2.33E-4	ENSG00000176619	ENST00000325327	.	.	.	4.83	2.52	0.30459	Filament (1);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.91818	3.245	0.52099	D	0.999947	D	0.89917	1.0	D	0.81914	0.995	D	0.83573	0.0113	9	0.87932	D	0	.	10.8341	0.46677	0.0:0.0:0.4591:0.5409	.	214	Q03252	LMNB2_HUMAN	W	214	.	ENSP00000327054:R214W	R	-	1	2	LMNB2	2386154	0.998000	0.40836	0.348000	0.25681	0.996000	0.88848	2.629000	0.46485	1.011000	0.39340	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	48	297	0	55	1	9.999602e-01	37	57	0	55	2		0	0	0	0	0	2	1	1	49	289	0	52	2								-5.731978	1	1	120352	16	43	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
GNG7	2788	broad.mit.edu	37	19	2515062	2515062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2515062C>T	ENST00000382159.3	-	5	362	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7			3		Hepatocellular(1079;0.137)			AGGGGTTCTCCGAGGCAGGGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000382159.3	1	1	hg19	CCDS12091.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451345.1	1	0	1	101	461	0	74	1	9.997479e-01	7	50	0	74	2		0	0	0	0	0	2	1	1	100	452	0	74	2								-2.675459	1	1	121412	1	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIRAS1	148252	broad.mit.edu	37	19	2717235	2717235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717235G>A	ENST00000323469.4	-	2	753	c.570C>T	c.(568-570)cgC>cgT	p.R190R	DIRAS1_ENST00000585334.1_Silent_p.R190R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1			6					TGCCCTTGACGCGGTCTGTCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000323469.4	1	1	hg19	CCDS12092.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	0	76	893	0	140	0	1.798532e-02	0	3	0	140	2		0	0	0	0	0	2	1	1	74	866	0	137	2								-16.292190	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.930000	0.740000	1.000000	1.000000	0.925528	0.930000	1	8.300000e-01	1
DIRAS1	148252	broad.mit.edu	37	19	2717474	2717474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717474C>T	ENST00000323469.4	-	2	514	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1			6					ATGTCCTCCACGCTGCCCTTG	0.642000																								0							SO:0001583	missense			ENST00000323469.4	1	1	hg19	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212378	0.39102	.	.	ENSG00000176490	ENST00000323469	T	0.70164	-0.46	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.064498	0.64402	D	0.000009	T	0.56337	0.1978	L	0.53671	1.685	0.58432	D	0.99999	B	0.28208	0.203	B	0.24541	0.054	T	0.54774	-0.8243	10	0.31617	T	0.26	.	8.0326	0.30474	0.0:0.8865:0.0:0.1135	.	111	O95057	DIRA1_HUMAN	M	111	ENSP00000325836:V111M	ENSP00000325836:V111M	V	-	1	0	DIRAS1	2668474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.573000	0.46007	1.898000	0.54952	0.549000	0.68633	GTG		TCGA-IB-7651-01A-11D-2154-08	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	1	36	226	0	38	0	9.833484e-02	0	4	0	38	2	0	0	0	1	0	0	2	1	1	33	221	0	37	2								-20.000000	1	0	121346	4	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
DIRAS1	148252	broad.mit.edu	37	19	2717568	2717568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717568G>A	ENST00000323469.4	-	2	420	c.237C>T	c.(235-237)ggC>ggT	p.G79G	DIRAS1_ENST00000585334.1_Silent_p.G79G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	p.G79G(1)		6					TGAAGGCGTGGCCCTTGGAGA	0.622000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000323469.4	1	1	hg19	CCDS12092.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	1	50	189	0	48	0	3.728733e-01	0	6	0	48	2	0	0	0	1	0	0	2	1	1	50	189	0	48	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIRAS1	148252	broad.mit.edu	37	19	2717589	2717589	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717589C>T	ENST00000323469.4	-	2	399	c.216G>A	c.(214-216)caG>caA	p.Q72Q	DIRAS1_ENST00000585334.1_Silent_p.Q72Q	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1			6					TGGACAGGCGCTGCATGGCCG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000323469.4	1	1	hg19	CCDS12092.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	1	59	189	0	41	0	5.275956e-01	0	7	0	41	2	0	0	0	1	0	0	2	1	1	59	186	0	41	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIRAS1	148252	broad.mit.edu	37	19	2717685	2717685	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717685G>A	ENST00000323469.4	-	2	303	c.120C>T	c.(118-120)atC>atT	p.I40I	DIRAS1_ENST00000585334.1_Silent_p.I40I	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1			6					AGGTGTCCTCGATGGTGGGGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000323469.4	1	1	hg19	CCDS12092.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1	1	0	1	76	328	0	66	0	2.422733e-01	0	5	0	66	2		0	0	0	0	0	2	1	1	74	321	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGTA	6449	broad.mit.edu	37	19	2769007	2769007	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2769007C>T	ENST00000221566.2	-	2	221	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha			7		Hepatocellular(1079;0.137)			GGCCCCCGTGCCGGAGCTGGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000221566.2	1	1	hg19	CCDS12094.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	1	0	1	80	368	0	88	1	1	49	106	0	88	2		0	0	0	0	0	2	1	1	79	363	0	86	2								-3.382112	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THOP1	7064	broad.mit.edu	37	19	2790603	2790603	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2790603G>A	ENST00000307741.6	+	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1			14					CGCTCAAGGCGCTGGCCGATG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000307741.6	1	1	hg19	CCDS12095.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2	1	0	1	27	234	0	48	1	9.928951e-01	9	61	0	48	2		0	0	0	0	0	2	1	1	26	232	0	47	2								-20.000000	1	1	121334	5	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.988518	0.990000	1	9.900000e-01	1
THOP1	7064	broad.mit.edu	37	19	2794884	2794884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2794884G>A	ENST00000307741.6	+	3	555	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1			14					GAGGGAGGACGTGTACCAGAG	0.617000																								0							SO:0001583	missense			ENST00000307741.6	1	1	hg19	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504213	0.85176	.	.	ENSG00000172009	ENST00000307741	T	0.08634	3.07	5.12	5.12	0.69794	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.32771	-0.9894	10	0.87932	D	0	-61.0448	17.1204	0.86700	0.0:0.0:1.0:0.0	.	118	P52888	THOP1_HUMAN	M	118	ENSP00000304467:V118M	ENSP00000304467:V118M	V	+	1	0	THOP1	2745884	1.000000	0.71417	0.991000	0.47740	0.777000	0.43975	9.003000	0.93577	2.382000	0.81193	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2	1	0	1	96	375	0	99	1	9.999972e-01	15	59	0	99	2		0	0	0	0	0	2	1	1	96	370	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF554	115196	broad.mit.edu	37	19	2834613	2834613	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2834613C>T	ENST00000317243.5	+	5	1578	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554			23		Hepatocellular(1079;0.137)			CTCACACGGGCGAGAACCCCT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000317243.5	1	1	hg19	CCDS42462.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	1	0	1	53	221	0	66	1	9.845118e-01	4	26	0	66	2		0	0	0	0	0	2	1	1	53	218	0	65	2								-20.000000	1	1	121398	2	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF555	148254	broad.mit.edu	37	19	2853592	2853592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2853592G>A	ENST00000334241.4	+	4	1667	c.1529G>A	c.(1528-1530)tGc>tAc	p.C510Y	ZNF555_ENST00000591539.1_Missense_Mutation_p.C509Y|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555			23					CTCTATAAATGCAAGCAGTGT	0.413000																								0							SO:0001583	missense			ENST00000334241.4	1	1	hg19	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485938	0.63962	.	.	ENSG00000186300	ENST00000334241	D	0.85088	-1.94	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93051	0.7788	M	0.91768	3.24	0.38304	D	0.943076	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94845	0.8008	9	0.87932	D	0	.	12.2446	0.54563	0.0:0.0:1.0:0.0	.	510;509	Q8NEP9;A8KA89	ZN555_HUMAN;.	Y	510	ENSP00000334853:C510Y	ENSP00000334853:C510Y	C	+	2	0	ZNF555	2804592	1.000000	0.71417	0.018000	0.16275	0.957000	0.61999	8.594000	0.90836	1.799000	0.52666	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	1	0	1	74	423	0	110	1	8.575661e-01	5	17	0	110	2		0	0	0	0	0	2	1	1	74	421	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF556	80032	broad.mit.edu	37	19	2876127	2876127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2876127C>T	ENST00000307635.2	+	3	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_ENST00000586426.1_Missense_Mutation_p.S56F	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556			31					GGGTCTATTTCTCAGCAGGAT	0.368000																								0							SO:0001583	missense			ENST00000307635.2	1	1	hg19	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459786	0.43736	.	.	ENSG00000172000	ENST00000307635	T	0.06218	3.33	2.44	2.44	0.29823	Krueppel-associated box (3);	.	.	.	.	T	0.04952	0.0133	L	0.33137	0.985	0.09310	N	1	D	0.54964	0.969	B	0.41332	0.354	T	0.23976	-1.0173	9	0.09843	T	0.71	.	10.636	0.45565	0.0:1.0:0.0:0.0	.	56	Q9HAH1	ZN556_HUMAN	F	56	ENSP00000302603:S56F	ENSP00000302603:S56F	S	+	2	0	ZNF556	2827127	0.000000	0.05858	0.017000	0.16124	0.270000	0.26580	0.426000	0.21363	1.391000	0.46566	0.393000	0.25936	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	1	0	1	202	933	0	190	0	0	0	1	0	190	2		0	0	0	0	0	2	1	1	196	911	0	185	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF77	58492	broad.mit.edu	37	19	2934085	2934085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2934085C>T	ENST00000314531.4	-	4	1132	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77			17					TTTCTCTCCACTGTGCGTTCT	0.512000																								0							SO:0001583	missense			ENST00000314531.4	1	0	hg19	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220668	0.39201	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.19394	2.15	3.28	-0.668	0.11392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13713	0.0332	N	0.21097	0.63	0.22933	N	0.998543	B	0.32543	0.375	B	0.35770	0.21	T	0.30327	-0.9982	9	0.66056	D	0.02	.	6.3263	0.21244	0.0:0.3325:0.5374:0.1302	.	347	Q15935	ZNF77_HUMAN	N	141;347	ENSP00000319053:S347N	ENSP00000319053:S347N	S	-	2	0	ZNF77	2885085	0.992000	0.36948	0.010000	0.14722	0.062000	0.15995	2.149000	0.42244	0.124000	0.18369	0.491000	0.48974	AGT		TCGA-IB-7651-01A-11D-2154-08	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	1	0	0	73	287	0	74	1	5.744568e-01	2	7	0	74	2		0	0	0	0	0	2	1	1	72	284	0	73	2								-3.387243	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UQCRFS1	7386	broad.mit.edu	37	19	29698753	29698753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:29698753A>G	ENST00000304863.4	-	2	949	c.527T>C	c.(526-528)gTg>gCg	p.V176A		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1			14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)		TCTATGACGCACAAACAGGGG	0.453000																								0							SO:0001583	missense			ENST00000304863.4	1	1	hg19	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601290	0.66445	.	.	ENSG00000169021	ENST00000304863	T	0.58358	0.34	5.42	5.42	0.78866	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (2);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	H	0.97440	4.005	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.88316	0.2959	10	0.87932	D	0	.	14.6407	0.68723	1.0:0.0:0.0:0.0	.	176	P47985	UCRI_HUMAN	A	176	ENSP00000306397:V176A	ENSP00000306397:V176A	V	-	2	0	UQCRFS1	34390593	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.071000	0.76770	2.053000	0.61076	0.379000	0.24179	GTG		TCGA-IB-7651-01A-11D-2154-08	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	1	0	1	103	601	0	145	1	1	169	480	0	145	2		0	0	0	0	0	2	1	1	101	590	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLE6	79816	broad.mit.edu	37	19	2987962	2987962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2987962G>A	ENST00000246112.4	+	10	893	c.692G>A	c.(691-693)gGt>gAt	p.G231D	TLE6_ENST00000452088.1_Missense_Mutation_p.G108D|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6			10					ACAAGTTGGGGTGTGGTCCAG	0.667000																								0							SO:0001583	missense			ENST00000246112.4	1	1	hg19	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208681	0.22205	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.19105	2.17;2.21	2.64	-5.2	0.02823	.	.	.	.	.	T	0.09992	0.0245	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.003;0.002;0.005	T	0.32693	-0.9897	9	0.34782	T	0.22	1.4638	0.8575	0.01186	0.455:0.1661:0.2125:0.1665	.	231;108;108	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	D	231;231;108;108	ENSP00000246112:G231D;ENSP00000406893:G108D	ENSP00000246112:G231D	G	+	2	0	TLE6	2938962	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.268000	0.08607	-1.113000	0.02981	0.449000	0.29647	GGT		TCGA-IB-7651-01A-11D-2154-08	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	1	0	0	12	112	0	27	1	1.994512e-01	4	4	0	27	2		0	0	0	0	0	2	1	9.992366e-01	12	111	0	26	2								-18.426610	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.650000	1.000000	1.000000	0.955830	0.990000	1	8.800000e-01	1
TLE6	79816	broad.mit.edu	37	19	2993462	2993462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2993462C>A	ENST00000246112.4	+	15	1620	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E	TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6			10					CCCAGGAGGACTGGGTGCTGC	0.632000																								0							SO:0001583	missense			ENST00000246112.4	1	1	hg19	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487138	0.26686	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.11385	2.78;2.78	3.38	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.12689	0.0308	L	0.43923	1.385	0.35456	D	0.796125	D;P;P;D	0.54772	0.968;0.859;0.937;0.968	P;P;B;P	0.52758	0.708;0.619;0.414;0.569	T	0.02721	-1.1119	9	0.02654	T	1	-46.1116	10.5257	0.44948	0.0:1.0:0.0:0.0	.	473;331;350;350	C9JGZ7;Q9Y6S1;Q9H808;Q6PJM9	.;.;TLE6_HUMAN;.	E	473;473;350;350	ENSP00000246112:D473E;ENSP00000406893:D350E	ENSP00000246112:D473E	D	+	3	2	TLE6	2944462	0.998000	0.40836	0.859000	0.33776	0.284000	0.27059	0.605000	0.24179	2.202000	0.70862	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	1	0	1	31	185	0	57	0	1.069905e-01	1	3	0	57	2		0	0	0	0	0	2	1	1	31	185	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999891	0.990000	1	9.900000e-01	1
TLE2	7089	broad.mit.edu	37	19	3006594	3006594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3006594C>T	ENST00000262953.6	-	15	1586	c.1324G>A	c.(1324-1326)Gcg>Acg	p.A442T	TLE2_ENST00000426948.2_Missense_Mutation_p.A456T|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2			13					GGGATGCCCGCGCCTACCAGT	0.682000																								0							SO:0001583	missense			ENST00000262953.6	0	1	hg19	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729813	0.48833	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	3.87	-0.643	0.11482	WD40 repeat-like-containing domain (1);	0.333784	0.33496	N	0.004855	T	0.03827	0.0108	N	0.15975	0.35	0.26651	N	0.972095	B;B;B;B;B;B	0.29716	0.255;0.001;0.003;0.003;0.001;0.001	B;B;B;B;B;B	0.15484	0.013;0.0;0.002;0.003;0.0;0.0	T	0.30238	-0.9985	10	0.52906	T	0.07	-20.3281	1.0155	0.01506	0.1583:0.2763:0.1551:0.4103	.	350;320;109;456;320;442	B4DZU9;E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;.;TLE2_HUMAN	T	442;320;436;109;320;456;350	ENSP00000262953:A442T;ENSP00000413107:A320T;ENSP00000406523:A109T;ENSP00000392427:A320T;ENSP00000392869:A456T	ENSP00000262953:A442T	A	-	1	0	TLE2	2957594	0.965000	0.33210	0.620000	0.29132	0.832000	0.47134	0.456000	0.21859	0.086000	0.17137	0.456000	0.33151	GCG		TCGA-IB-7651-01A-11D-2154-08	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	1	0	1	16	70	0	13	1	9.710594e-01	7	22	0	13	2		0	0	0	0	0	2	1	9.999550e-01	15	69	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999778	0.990000	1	9.900000e-01	1
TLE2	7089	broad.mit.edu	37	19	3008916	3008916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3008916G>A	ENST00000262953.6	-	14	1463	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2			13					GATGACCCTCGGAGATGGGGA	0.652000																								0							SO:0001587	stop_gained			ENST00000262953.6	0	1	hg19	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	g	45	11.444582	0.99562	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	.	.	.	3.99	3.99	0.46301	.	0.116373	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8716	9.2923	0.37793	0.0:0.0:0.7855:0.2145	.	.	.	.	X	401;279;395;68;279;415;309	.	ENSP00000262953:R401X	R	-	1	2	TLE2	2959916	1.000000	0.71417	0.946000	0.38457	0.532000	0.34746	0.437000	0.21543	2.512000	0.84698	0.549000	0.68633	CGA		TCGA-IB-7651-01A-11D-2154-08	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	1	0	1	5	31	0	10	1	9.538183e-01	2	37	0	10	2		0	0	0	0	0	2	1	9.377759e-01	5	30	0	10	2								-11.276580	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.630000	1.000000	1.000000	0.969940	0.990000	1	9.900000e-01	1
TLE2	7089	broad.mit.edu	37	19	3011123	3011123	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3011123G>T	ENST00000262953.6	-	12	1171	c.909C>A	c.(907-909)tcC>tcA	p.S303S	TLE2_ENST00000426948.2_Silent_p.S317S|TLE2_ENST00000447365.2_Missense_Mutation_p.P12H|TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000590536.1_Silent_p.S304S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000587217.1_5'Flank	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2			13					AGGAGTCACAGGATTTGGAGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000262953.6	1	1	hg19	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527215	0.27299	.	.	ENSG00000065717	ENST00000447365	T	0.59906	0.23	4.58	3.51	0.40186	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	8	0.59425	D	0.04	2.597	9.9184	0.41448	0.0:0.0:0.6161:0.3839	.	12	B4DE62	.	H	12	ENSP00000406523:P12H	ENSP00000406523:P12H	P	-	2	0	TLE2	2962123	0.267000	0.24122	0.998000	0.56505	0.491000	0.33493	0.216000	0.17585	0.990000	0.38787	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	0	0	1	25	110	0	25	1	9.999082e-01	8	62	0	25	2		0	0	0	0	0	2	1	9.999999e-01	22	105	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
C19orf12	83636	broad.mit.edu	37	19	30193830	30193830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30193830G>A	ENST00000392278.2	-	3	374	c.248C>T	c.(247-249)cCg>cTg	p.P83L	C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000323670.9_Missense_Mutation_p.P72L|C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12				Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		CTGAGGAACCGGCTTAAACTG	0.557000																								0							SO:0001583	missense			ENST00000392278.2	1	1	hg19	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173517	0.57584	.	.	ENSG00000131943	ENST00000323670;ENST00000392276;ENST00000392275;ENST00000392278;ENST00000342680	D;D;D	0.82433	-1.61;-1.61;-1.61	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.958;0.995	D	0.93199	0.6590	10	0.87932	D	0	-11.7687	17.7183	0.88344	0.0:0.0:1.0:0.0	.	72;83	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	L	72;8;8;83;72	ENSP00000313332:P72L;ENSP00000376102:P8L;ENSP00000376103:P83L	ENSP00000313332:P72L	P	-	2	0	C19orf12	34885670	1.000000	0.71417	0.911000	0.35937	0.422000	0.31414	9.057000	0.93889	2.435000	0.82474	0.591000	0.81541	CCG		TCGA-IB-7651-01A-11D-2154-08	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	1	0	1	110	604	0	151	1	9.999820e-01	23	63	0	151	2		0	0	0	0	0	2	1	1	107	597	0	149	2								-3.076141	1	1	121412	4	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C19orf12	83636	broad.mit.edu	37	19	30199248	30199248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30199248C>T	ENST00000392278.2	-	2	232	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000323670.9_Missense_Mutation_p.V25I|C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I|C19orf12_ENST00000392275.1_Intron	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12				Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		GAGTGCTTGACAGCCGCCTTC	0.617000																								0							SO:0001583	missense			ENST00000392278.2	1	1	hg19	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804629	0.16467	.	.	ENSG00000131943	ENST00000323670;ENST00000392278;ENST00000342680	D;D;D	0.82255	-1.59;-1.59;-1.59	6.08	-0.232	0.13082	.	0.360249	0.28398	N	0.015489	T	0.66208	0.2766	L	0.28274	0.84	0.37127	D	0.901079	B;B	0.18863	0.011;0.031	B;B	0.18871	0.016;0.023	T	0.51458	-0.8703	10	0.19147	T	0.46	-25.3389	6.3088	0.21153	0.12:0.5333:0.0:0.3467	.	25;36	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	I	25;36;25	ENSP00000313332:V25I;ENSP00000376103:V36I;ENSP00000345497:V25I	ENSP00000313332:V25I	V	-	1	0	C19orf12	34891088	0.001000	0.12720	0.307000	0.25127	0.060000	0.15804	-0.075000	0.11431	0.163000	0.19507	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	1	0	1	101	366	0	63	1	9.841026e-01	8	18	0	63	2		0	0	0	0	0	2	1	1	101	360	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNE1	898	broad.mit.edu	37	19	30312955	30312955	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30312955A>G	ENST00000262643.3	+	9	1037	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C|CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1			20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		CTGAATGTATACATGCAGGTT	0.433000			A		serous ovarian										Dom	yes		19	19q12	898	cyclin E1		E	0							SO:0001583	missense			ENST00000262643.3	1	1	hg19	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129424	0.77549	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.23950	1.88;1.88;1.88	6.08	6.08	0.98989	Cyclin, C-terminal (1);Cyclin-like (1);	0.051716	0.85682	D	0.000000	T	0.52821	0.1758	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58814	-0.7570	10	0.87932	D	0	.	10.985	0.47516	0.8609:0.0:0.0:0.1391	.	253	P24864	CCNE1_HUMAN	C	253;210;238	ENSP00000262643:Y253C;ENSP00000350625:Y210C;ENSP00000410179:Y238C	ENSP00000262643:Y253C	Y	+	2	0	CCNE1	35004795	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.330000	0.79181	2.333000	0.79357	0.482000	0.46254	TAC		TCGA-IB-7651-01A-11D-2154-08	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	1	0	1	167	682	0	140	1	9.106652e-01	4	15	0	140	2		0	0	0	0	0	2	1	1	160	668	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNE1	898	broad.mit.edu	37	19	30313164	30313164	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313164C>A	ENST00000262643.3	+	10	1137	c.858C>A	c.(856-858)gtC>gtA	p.V286V	CCNE1_ENST00000444983.2_Silent_p.V271V|CCNE1_ENST00000357943.5_Silent_p.V243V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1			20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		ATCTCTGTGTCCTGGATGTTG	0.473000			A		serous ovarian										Dom	yes		19	19q12	898	cyclin E1		E	0							SO:0001819	synonymous_variant			ENST00000262643.3	1	1	hg19	CCDS12419.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	1	0	1	146	629	0	176	1	9.960242e-01	19	19	0	176	2		0	0	0	0	0	2	1	1	140	614	0	176	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNE1	898	broad.mit.edu	37	19	30313366	30313366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313366C>T	ENST00000262643.3	+	11	1245	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_ENST00000444983.2_Silent_p.C307C|CCNE1_ENST00000357943.5_Silent_p.C279C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1			20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		ATCAGTGGTGCGACATAGAGA	0.498000			A		serous ovarian										Dom	yes		19	19q12	898	cyclin E1		E	0							SO:0001819	synonymous_variant			ENST00000262643.3	1	1	hg19	CCDS12419.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	1	0	0	117	503	0	126	1	8.963951e-01	6	13	0	126	2		0	0	0	0	0	2	1	1	113	494	0	126	2								-20.000000	1	1	121412	5	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MIER2	54531	broad.mit.edu	37	19	308850	308850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:308850C>T	ENST00000264819.4	-	11	1070	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2			22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)			GTCTGCTGGGCGAAGTAGTCG	0.677000																								0							SO:0001583	missense			ENST00000264819.4	1	1	hg19	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568703	0.45798	.	.	ENSG00000105556	ENST00000264819	T	0.29397	1.57	4.49	1.07	0.20283	.	0.498482	0.16667	N	0.204525	T	0.13670	0.0331	N	0.12637	0.245	0.22389	N	0.99915	B	0.18310	0.027	B	0.14578	0.011	T	0.17440	-1.0369	10	0.36615	T	0.2	-10.9915	3.6206	0.08094	0.2274:0.1757:0.0:0.5968	.	354	Q8N344	MIER2_HUMAN	T	354	ENSP00000264819:A354T	ENSP00000264819:A354T	A	-	1	0	MIER2	259850	1.000000	0.71417	0.987000	0.45799	0.960000	0.62799	3.052000	0.49893	-0.094000	0.12374	0.457000	0.33378	GCC		TCGA-IB-7651-01A-11D-2154-08	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	1	0	1	45	356	0	66	1	8.358839e-01	2	26	0	66	2		0	0	0	0	0	2	1	1	43	352	0	66	2								-16.831220	1	1	121404	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998630	0.990000	1	9.900000e-01	1
ZNF536	9745	broad.mit.edu	37	19	30934897	30934897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30934897G>A	ENST00000355537.3	+	2	575	c.428G>A	c.(427-429)aGc>aAc	p.S143N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536			182	Esophageal squamous(110;0.0834)				CGCTTCAACAGCATCCTCTCC	0.622000																								0							SO:0001583	missense			ENST00000355537.3	1	1	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991212	0.74703	.	.	ENSG00000198597	ENST00000355537	T	0.07567	3.18	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.040714	0.85682	N	0.000000	T	0.21761	0.0524	L	0.32530	0.975	0.54753	D	0.999986	D;D	0.69078	0.996;0.997	D;D	0.79784	0.951;0.993	T	0.00579	-1.1661	10	0.66056	D	0.02	-34.9913	19.4466	0.94849	0.0:0.0:1.0:0.0	.	143;143	A7E228;O15090	.;ZN536_HUMAN	N	143	ENSP00000347730:S143N	ENSP00000347730:S143N	S	+	2	0	ZNF536	35626737	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.860000	0.99555	2.609000	0.88269	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	1	70	285	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	68	282	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF536	9745	broad.mit.edu	37	19	30935229	30935229	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935229C>T	ENST00000355537.3	+	2	907	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536			182	Esophageal squamous(110;0.0834)				CGTGGCCCACCCGGTGCCCTC	0.736000																								0							SO:0001583	missense			ENST00000355537.3	0	1	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960870	0.18583	.	.	ENSG00000198597	ENST00000355537	T	0.09073	3.02	5.7	5.7	0.88788	.	0.051124	0.85682	D	0.000000	T	0.08802	0.0218	L	0.32530	0.975	0.45979	D	0.998794	P;P	0.48294	0.666;0.908	B;P	0.46585	0.162;0.521	T	0.11036	-1.0604	10	0.05959	T	0.93	-30.3078	14.6357	0.68689	0.1456:0.8544:0.0:0.0	.	254;254	A7E228;O15090	.;ZN536_HUMAN	S	254	ENSP00000347730:P254S	ENSP00000347730:P254S	P	+	1	0	ZNF536	35627069	1.000000	0.71417	0.958000	0.39756	0.891000	0.51852	1.929000	0.40114	2.702000	0.92279	0.491000	0.48974	CCG		TCGA-IB-7651-01A-11D-2154-08	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	0	28	98	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	1	27	97	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF536	9745	broad.mit.edu	37	19	30935664	30935664	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935664C>A	ENST00000355537.3	+	2	1342	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536			182	Esophageal squamous(110;0.0834)				CCTCAACAAGCTGTCGGTGAA	0.607000																								0							SO:0001583	missense			ENST00000355537.3	1	1	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655879	0.29425	.	.	ENSG00000198597	ENST00000355537	T	0.09817	2.94	5.44	5.44	0.79542	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.24044	0.0582	L	0.48642	1.525	0.39902	D	0.973911	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00651	-1.1626	10	0.56958	D	0.05	-19.9523	10.4163	0.44325	0.0:0.8797:0.0:0.1203	.	399;399	A7E228;O15090	.;ZN536_HUMAN	M	399	ENSP00000347730:L399M	ENSP00000347730:L399M	L	+	1	2	ZNF536	35627504	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.184000	0.50926	2.535000	0.85469	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	1	90	374	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	89	370	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF536	9745	broad.mit.edu	37	19	31040060	31040060	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536			182	Esophageal squamous(110;0.0834)				GGGAGAACAACGATGAAGAGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000355537.3	1	1	hg19	CCDS32984.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	1	81	319	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	1	81	311	0	77	2								-20.000000	1	1	121410	7	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNA11	2767	broad.mit.edu	37	19	3119349	3119349	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3119349A>C	ENST00000078429.4	+	6	1123	c.881A>C	c.(880-882)gAg>gCg	p.E294A	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)			161		Hepatocellular(1079;0.137)			TACTTCCCCGAGTTCGATGGT	0.637000			Mis		uveal melanoma										Dom	yes		19	19p13.3	2767	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)		E	0							SO:0001583	missense			ENST00000078429.4	1	1	hg19	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.483197	0.44147	.	.	ENSG00000088256	ENST00000078429	D	0.89617	-2.54	4.12	4.12	0.48240	.	0.344132	0.26915	N	0.021849	D	0.88919	0.6568	M	0.73430	2.235	0.58432	D	0.99999	B	0.13145	0.007	B	0.29077	0.098	D	0.87515	0.2442	10	0.87932	D	0	.	11.9657	0.53033	1.0:0.0:0.0:0.0	.	294	P29992	GNA11_HUMAN	A	294	ENSP00000078429:E294A	ENSP00000078429:E294A	E	+	2	0	GNA11	3070349	1.000000	0.71417	0.999000	0.59377	0.747000	0.42532	4.525000	0.60559	1.511000	0.48818	0.391000	0.25812	GAG		TCGA-IB-7651-01A-11D-2154-08	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	1	0	1	78	330	0	81	1	1	59	166	0	81	2		0	0	0	0	0	2	1	1	76	327	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNA11	2767	broad.mit.edu	37	19	3121121	3121121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3121121G>A	ENST00000078429.4	+	7	1266	c.1024G>A	c.(1024-1026)Gcg>Acg	p.A342T	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)			161		Hepatocellular(1079;0.137)			CTTCGTGTTCGCGGCCGTGAA	0.597000			Mis		uveal melanoma										Dom	yes		19	19p13.3	2767	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)		E	0							SO:0001583	missense			ENST00000078429.4	1	1	hg19	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519968	0.44866	.	.	ENSG00000088256	ENST00000078429	D	0.89485	-2.52	3.45	3.45	0.39498	.	0.000000	0.53938	D	0.000051	D	0.87241	0.6128	M	0.65498	2.005	0.46564	D	0.999102	B	0.14805	0.011	B	0.17433	0.018	D	0.85982	0.1483	10	0.52906	T	0.07	.	13.6444	0.62272	0.0:0.0:1.0:0.0	.	342	P29992	GNA11_HUMAN	T	342	ENSP00000078429:A342T	ENSP00000078429:A342T	A	+	1	0	GNA11	3072121	1.000000	0.71417	0.951000	0.38953	0.972000	0.66771	4.927000	0.63440	1.773000	0.52216	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	1	0	1	43	187	0	43	1	9.999998e-01	33	75	0	43	2		0	0	0	0	0	2	1	1	42	184	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNA15	2769	broad.mit.edu	37	19	3148678	3148678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3148678C>T	ENST00000262958.3	+	2	493	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)			18		Hepatocellular(1079;0.137)			CAAGGGCTTCCGGCCCCTGGT	0.632000																								0							SO:0001583	missense			ENST00000262958.3	0	0	hg19	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808551	0.50421	.	.	ENSG00000060558	ENST00000262958	D	0.90676	-2.71	4.98	-3.68	0.04463	G protein alpha subunit, helical insertion (2);	0.342873	0.26507	N	0.023999	D	0.90445	0.7008	M	0.72353	2.195	0.25551	N	0.987082	D	0.62365	0.991	P	0.55303	0.773	D	0.84788	0.0777	10	0.87932	D	0	.	8.4575	0.32908	0.4777:0.2004:0.3219:0.0	.	79	P30679	GNA15_HUMAN	W	79	ENSP00000262958:R79W	ENSP00000262958:R79W	R	+	1	2	GNA15	3099678	0.718000	0.27976	0.063000	0.19743	0.252000	0.25951	0.214000	0.17541	-0.102000	0.12197	0.456000	0.33151	CGG		TCGA-IB-7651-01A-11D-2154-08	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	1	0	1	17	60	0	7	1	9.998284e-01	19	39	0	7	2		0	0	0	0	0	2	1	9.999799e-01	17	58	0	7	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
GNA15	2769	broad.mit.edu	37	19	3151773	3151773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3151773G>T	ENST00000262958.3	+	4	812	c.554G>T	c.(553-555)aGc>aTc	p.S185I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)			18		Hepatocellular(1079;0.137)			GTGCTCCGCAGCCGCATGCCC	0.642000																								0							SO:0001583	missense			ENST00000262958.3	1	1	hg19	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060650	0.36373	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.59	3.53	0.40419	G protein alpha subunit, helical insertion (1);	0.130161	0.51477	U	0.000099	T	0.80999	0.4732	N	0.21508	0.67	0.34022	D	0.652732	B	0.11235	0.004	B	0.18263	0.021	T	0.80504	-0.1353	10	0.87932	D	0	.	9.8799	0.41227	0.0:0.0:0.6289:0.3711	.	185	P30679	GNA15_HUMAN	I	185	ENSP00000262958:S185I	ENSP00000262958:S185I	S	+	2	0	GNA15	3102773	0.025000	0.19082	0.962000	0.40283	0.800000	0.45204	1.389000	0.34453	0.895000	0.36342	0.546000	0.68486	AGC		TCGA-IB-7651-01A-11D-2154-08	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	1	0	1	136	572	0	128	1	9.998681e-01	18	38	0	128	2		0	0	0	0	0	2	1	1	135	560	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHZ3	57616	broad.mit.edu	37	19	31767496	31767496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31767496G>A	ENST00000240587.4	-	2	3530	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	p.P885L(1)|p.P1068L(1)		123	Esophageal squamous(110;0.226)				GTGGTCTTCCGGAGATTTCCC	0.468000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000240587.4	1	1	hg19	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133706	0.56828	.	.	ENSG00000121297	ENST00000240587	T	0.41400	1.0	5.93	5.93	0.95920	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.68952	2.095	0.80722	D	1	P	0.47253	0.892	B	0.35240	0.198	T	0.54022	-0.8355	10	0.87932	D	0	-8.4718	20.3507	0.98813	0.0:0.0:1.0:0.0	.	1068	Q63HK5	TSH3_HUMAN	L	1068	ENSP00000240587:P1068L	ENSP00000240587:P1068L	P	-	2	0	TSHZ3	36459336	1.000000	0.71417	0.097000	0.21041	0.715000	0.41141	9.441000	0.97557	2.808000	0.96608	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	1	0	1	77	301	0	63	1	9.998943e-01	4	51	0	63	2		0	0	0	0	0	2	1	1	75	296	0	63	2								-2.929070	1	1	121394	1	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHZ3	57616	broad.mit.edu	37	19	31768179	31768179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31768179G>A	ENST00000240587.4	-	2	2847	c.2520C>T	c.(2518-2520)cgC>cgT	p.R840R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3			123	Esophageal squamous(110;0.226)				AGGCATTCTCGCGTAGCGGCG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000240587.4	1	1	hg19	CCDS12421.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	1	0	1	149	524	0	124	1	9.962051e-01	4	28	0	124	2		0	0	0	0	0	2	1	1	147	514	0	123	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHZ3	57616	broad.mit.edu	37	19	31770107	31770107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31770107G>A	ENST00000240587.4	-	2	919	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3			123	Esophageal squamous(110;0.226)				CTGCTCTGCCGGTACAGCTGC	0.627000																								0							SO:0001583	missense			ENST00000240587.4	1	1	hg19	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306921	0.60305	.	.	ENSG00000121297	ENST00000240587	T	0.19105	2.17	5.42	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.72479	2.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.44498	-0.9324	10	0.87932	D	0	-21.9214	12.0876	0.53706	0.0:0.0:0.4553:0.5447	.	198	Q63HK5	TSH3_HUMAN	W	198	ENSP00000240587:R198W	ENSP00000240587:R198W	R	-	1	2	TSHZ3	36461947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.263000	0.51546	1.217000	0.43442	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	1	0	1	88	354	0	91	0	9.388319e-01	0	21	0	91	2		0	0	0	0	0	2	1	1	86	348	0	90	2								-3.045800	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
S1PR4	8698	broad.mit.edu	37	19	3178948	3178948	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3178948C>T	ENST00000246115.3	+	1	213	c.158C>T	c.(157-159)tCg>tTg	p.S53L	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4			13					CGGGGGCTGTCGGTGGCCGCC	0.711000													GBM(82;318 1638 33279 49708)											0							SO:0001583	missense			ENST00000246115.3	1	1	hg19	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252049	0.39797	.	.	ENSG00000125910	ENST00000246115	T	0.32988	1.43	3.73	2.68	0.31781	.	0.294789	0.32068	N	0.006622	T	0.15089	0.0364	N	0.14661	0.345	0.29794	N	0.832973	B	0.15141	0.012	B	0.04013	0.001	T	0.08371	-1.0725	10	0.46703	T	0.11	.	4.6557	0.12617	0.0:0.2117:0.0:0.7883	.	53	O95977	S1PR4_HUMAN	L	53	ENSP00000246115:S53L	ENSP00000246115:S53L	S	+	2	0	S1PR4	3129948	0.991000	0.36638	0.039000	0.18376	0.953000	0.61014	1.912000	0.39946	0.505000	0.28104	0.462000	0.41574	TCG		TCGA-IB-7651-01A-11D-2154-08	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	0	0	0	8	31	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.920095e-01	8	31	0	14	2								-19.909060	1	1	111324	1	22	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997156	0.990000	1	9.900000e-01	1
S1PR4	8698	broad.mit.edu	37	19	3179636	3179636	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3179636C>T	ENST00000246115.3	+	1	901	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4			13					ACCTCTGGGCCCAGGAGTACC	0.642000													GBM(82;318 1638 33279 49708)											0							SO:0001819	synonymous_variant			ENST00000246115.3	1	1	hg19	CCDS12105.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	1	0	0	74	713	0	131	0	4.555931e-01	0	16	0	131	2		0	0	0	0	0	2	1	1	74	707	0	129	2								-3.075755	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.890000	1.000000	1.000000	0.991190	0.990000	1	9.900000e-01	1
NCLN	56926	broad.mit.edu	37	19	3192496	3192496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3192496G>A	ENST00000246117.4	+	2	644	c.213G>A	c.(211-213)gaG>gaA	p.E71E	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin			5		Hepatocellular(1079;0.137)			TGAACACGGAGGCGCGCACGA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000246117.4	1	1	hg19	CCDS32869.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	1	0	0	36	140	0	26	1	9.896772e-01	9	22	0	26	2	0	0	0	1	0	0	2	1	1	34	139	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELF5	60680	broad.mit.edu	37	19	3281290	3281290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3281290C>A	ENST00000292672.2	+	6	734	c.697C>A	c.(697-699)Ctg>Atg	p.L233M	CELF5_ENST00000541430.2_Missense_Mutation_p.L233M	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5			13					GCTGGGCATCCTGACGCCGTC	0.662000																								0							SO:0001583	missense			ENST00000292672.2	1	1	hg19	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291455	0.40494	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.30981	2.16;1.59;1.51	3.73	2.39	0.29439	.	0.272295	0.35378	N	0.003255	T	0.28234	0.0697	N	0.25992	0.78	0.37470	D	0.915569	B;P;B	0.51147	0.126;0.942;0.04	B;P;B	0.55824	0.043;0.785;0.027	T	0.16630	-1.0396	10	0.56958	D	0.05	-4.319	3.4995	0.07668	0.0:0.5817:0.0:0.4183	.	119;233;233	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	M	233;233;119	ENSP00000292672:L233M;ENSP00000443498:L233M;ENSP00000335182:L119M	ENSP00000292672:L233M	L	+	1	2	CELF5	3232290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.788000	0.38714	1.813000	0.52934	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	0	0	0	21	669	0	118	0	3.092450e-03	1	2	0	118	2		0	0	0	0	0	2	1	9.999971e-01	21	659	0	116	2								-3.054661	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.370000	0.230000	1.000000	0.360000	0.425254	0.370000	0	2.900000e-01	4.900000e-01
DPY19L3	147991	broad.mit.edu	37	19	32954831	32954831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32954831G>A	ENST00000342179.5	+	14	1717	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)			32	Esophageal squamous(110;0.162)				GGCCTATGTAGCCCTGAAATA	0.438000																								0							SO:0001583	missense			ENST00000342179.5	1	1	hg19	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905790	0.72868	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.61980	0.06;0.06	4.93	4.93	0.64822	.	0.101993	0.64402	D	0.000001	T	0.67192	0.2867	M	0.67569	2.06	0.41464	D	0.988064	B	0.32324	0.364	B	0.38106	0.265	T	0.71741	-0.4501	10	0.72032	D	0.01	-17.6341	18.1687	0.89737	0.0:0.0:1.0:0.0	.	501	Q6ZPD9	D19L3_HUMAN	N	501	ENSP00000376081:S501N;ENSP00000344937:S501N	ENSP00000315672:S501N	S	+	2	0	DPY19L3	37646671	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	8.503000	0.90509	2.284000	0.76573	0.557000	0.71058	AGC		TCGA-IB-7651-01A-11D-2154-08	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	1	0	1	148	663	0	175	1	9.159475e-01	2	19	0	175	2		0	0	0	0	0	2	1	1	149	651	0	173	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPY19L3	147991	broad.mit.edu	37	19	32971376	32971376	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32971376C>T	ENST00000342179.5	+	18	2117	c.1902C>T	c.(1900-1902)taC>taT	p.Y634Y	DPY19L3_ENST00000392250.2_Silent_p.Y634Y|DPY19L3_ENST00000586987.1_Silent_p.Y634Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)			32	Esophageal squamous(110;0.162)				GCACTGACTACGTAATCCTGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000342179.5	1	1	hg19	CCDS12422.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	0	0	0	9	285	0	49	0	2.319647e-01	0	27	0	49	2		0	0	0	0	0	2	1	9.937612e-01	9	279	0	49	2								-9.771517	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.390000	0.180000	1.000000	0.360000	0.443495	0.390000	0	2.700000e-01	5.700000e-01
PDCD5	9141	broad.mit.edu	37	19	33076792	33076792	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33076792A>T	ENST00000590247.2	+	4	431	c.237A>T	c.(235-237)agA>agT	p.R79S	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000419343.3_Missense_Mutation_p.R79S	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5			5	Esophageal squamous(110;0.137)				AGATGGCAAGATATGGACAAC	0.348000																								0							SO:0001583	missense			ENST00000590247.2	1	1	hg19	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246699	0.59103	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.6	0.88	0.19161	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.46157	1.445	0.80722	D	1	P;B	0.37573	0.6;0.083	B;B	0.42625	0.393;0.137	T	0.22034	-1.0228	9	0.56958	D	0.05	-9.985	4.5168	0.11939	0.6197:0.0:0.2468:0.1334	.	79;79	O14737;B4DE64	PDCD5_HUMAN;.	S	79	.	ENSP00000221784:R79S	R	+	3	2	PDCD5	37768632	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	0.724000	0.25954	-0.187000	0.10516	0.460000	0.39030	AGA		TCGA-IB-7651-01A-11D-2154-08	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	0	0	1	72	304	1	102	1	1	249	523	1	102	24		0	0	0	0	0	2	1	1	68	297	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS9BP	388531	broad.mit.edu	37	19	33167833	33167833	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33167833C>T	ENST00000334176.3	+	1	1521	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein			3	Esophageal squamous(110;0.137)				CGCCGTGCTGCTGGCGGCTGT	0.721000																								0							SO:0001819	synonymous_variant			ENST00000334176.3	1	1	hg19	CCDS12424.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	1	0	0	22	105	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.999994e-01	22	105	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
NUDT19	390916	broad.mit.edu	37	19	33183175	33183175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33183175G>A	ENST00000397061.3	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19			8	Esophageal squamous(110;0.137)				CTTTCCCGTCGCTGCCCGACA	0.721000																								0							SO:0001819	synonymous_variant			ENST00000397061.3	1	1	hg19	CCDS42543.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	1	0	0	56	238	0	44	0	0	1	0	0	44	2		0	0	0	0	0	2	1	1	56	235	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUDT19	390916	broad.mit.edu	37	19	33200284	33200284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33200284T>C	ENST00000397061.3	+	2	908	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19			8	Esophageal squamous(110;0.137)				GATGGGATGGTCCATCTTTTA	0.473000																								0							SO:0001583	missense			ENST00000397061.3	1	1	hg19	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543265	0.45280	.	.	ENSG00000213965	ENST00000397061	T	0.50548	0.74	4.77	4.77	0.60923	.	0.318283	0.26567	U	0.023647	T	0.40956	0.1138	L	0.49778	1.585	0.21290	N	0.999736	B	0.29716	0.255	B	0.27262	0.078	T	0.38308	-0.9667	10	0.46703	T	0.11	-16.3334	10.961	0.47385	0.0:0.0:0.0:1.0	.	303	A8MXV4	NUD19_HUMAN	A	303	ENSP00000380251:V303A	ENSP00000380251:V303A	V	+	2	0	NUDT19	37892124	0.088000	0.21588	0.036000	0.18154	0.087000	0.18053	4.148000	0.58085	1.891000	0.54761	0.482000	0.46254	GTC		TCGA-IB-7651-01A-11D-2154-08	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	1	0	1	71	376	0	86	1	9.899082e-01	9	31	0	86	2		0	0	0	0	0	2	1	1	71	367	0	86	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUDT19	390916	broad.mit.edu	37	19	33202821	33202821	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33202821C>T	ENST00000397061.3	+	3	1086	c.1086C>T	c.(1084-1086)caC>caT	p.H362H		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19			8	Esophageal squamous(110;0.137)				AGTATAAACACGTTTATCCTA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000397061.3	1	1	hg19	CCDS42543.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	1	0	1	113	591	0	119	1	9.976393e-01	11	38	0	119	2		0	0	0	0	0	2	1	1	109	581	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC7A9	11136	broad.mit.edu	37	19	33355586	33355586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355586C>T	ENST00000023064.4	-	3	375	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9			32	Esophageal squamous(110;0.137)			L-Cystine(DB00138)	CAGGGCCCCACAGCTTCCGTG	0.617000													GBM(181;1335 2108 9644 44178 46689)											0		GRCh37	CM050099	SLC7A9	M		SO:0001583	missense			ENST00000023064.4	1	1	hg19	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196535	0.79015	.	.	ENSG00000021488	ENST00000023064	D	0.90504	-2.68	5.13	5.13	0.70059	Amino acid permease domain (1);	0.055402	0.64402	D	0.000001	D	0.96024	0.8705	H	0.94264	3.515	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.96517	0.9383	10	0.72032	D	0.01	.	12.3425	0.55101	0.0:0.922:0.0:0.078	.	62	P82251	BAT1_HUMAN	M	62	ENSP00000023064:V62M	ENSP00000023064:V62M	V	-	1	0	SLC7A9	38047426	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.091000	0.71406	2.565000	0.86533	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1	1	0	1	145	646	0	139	1	8.444308e-01	2	14	0	139	2		0	0	0	0	0	2	1	1	141	638	0	139	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC7A9	11136	broad.mit.edu	37	19	33355629	33355629	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355629C>T	ENST00000023064.4	-	3	332	c.141G>A	c.(139-141)ggG>ggA	p.G47G	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Silent_p.G47G|SLC7A9_ENST00000590341.1_Silent_p.G47G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9			32	Esophageal squamous(110;0.137)			L-Cystine(DB00138)	AAACGAAGATCCCAGAGCCAA	0.617000													GBM(181;1335 2108 9644 44178 46689)											0							SO:0001819	synonymous_variant			ENST00000023064.4	1	1	hg19	CCDS12425.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1	1	0	1	169	780	0	183	1	8.051994e-01	14	2	0	183	2		0	0	0	0	0	2	1	1	168	767	0	182	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C19orf40	91442	broad.mit.edu	37	19	33464384	33464384	+	Silent	SNP	G	G	A	rs146261594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33464384G>A	ENST00000588258.1	+	3	269	c.159G>A	c.(157-159)tcG>tcA	p.S53S	C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_5'UTR|CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000590281.1_Silent_p.S53S|CEP89_ENST00000591863.1_5'Flank	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40			7	Esophageal squamous(110;0.137)				TTTATCTGTCGAACAGATGCT	0.403000								Direct reversal of damage																0							SO:0001819	synonymous_variant			ENST00000588258.1	1	1	hg19	CCDS12426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	0	0	0	22	828	0	146	0	4.767181e-02	0	13	0	146	2		0	0	0	0	0	2	1	9.999979e-01	22	793	0	146	2								-2.381070	0	1	121412	6	43	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.310000	0.190000	1.000000	0.300000	0.373671	0.310000	0	2.500000e-01	4.100000e-01
RHPN2	85415	broad.mit.edu	37	19	33486990	33486990	+	Silent	SNP	G	G	A	rs142685730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2			44	Esophageal squamous(110;0.137)				GGTGCTGGGCGTACGTGAGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000254260.3	1	1	hg19	CCDS12427.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	1	0	0	69	355	0	80	1	1	233	191	0	80	2		0	0	0	0	0	2	1	1	66	334	0	81	2								-20.000000	1	1	121412	61	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPATCH1	55094	broad.mit.edu	37	19	33588747	33588747	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33588747C>T	ENST00000170564.2	+	8	1253	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1			40	Esophageal squamous(110;0.137)				TTCTGAAGGACGAGGAGCCTG	0.463000													Pancreas(67;88 1713 4567 18227)											0							SO:0001819	synonymous_variant			ENST00000170564.2	1	1	hg19	CCDS12428.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	1	0	0	170	940	0	231	1	9.886409e-01	5	35	0	231	2		0	0	0	0	0	2	1	1	169	925	0	229	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR88	126248	broad.mit.edu	37	19	33647385	33647385	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33647385G>T	ENST00000355868.3	+	7	1010	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	WDR88_ENST00000361680.2_Missense_Mutation_p.A312S	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88			25	Esophageal squamous(110;0.137)				AAACTGTGGAGCCTGTGTGAC	0.473000																								0							SO:0001583	missense			ENST00000355868.3	1	1	hg19	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020014	0.35606	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.38887	1.11;1.11	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.147620	0.06325	N	0.705236	T	0.52629	0.1746	L	0.38649	1.16	0.24566	N	0.99394	D	0.61080	0.989	P	0.60173	0.87	T	0.42999	-0.9418	10	0.20046	T	0.44	.	13.2963	0.60298	0.0:0.2597:0.7403:0.0	.	312	Q6ZMY6	WDR88_HUMAN	S	312	ENSP00000348129:A312S;ENSP00000355148:A312S	ENSP00000348129:A312S	A	+	1	0	WDR88	38339225	1.000000	0.71417	0.980000	0.43619	0.111000	0.19643	3.803000	0.55560	2.639000	0.89480	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	1	0	1	46	435	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	45	422	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.850000	1.000000	1.000000	0.987069	0.990000	1	9.800000e-01	1
LRP3	4037	broad.mit.edu	37	19	33696342	33696342	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696342G>A	ENST00000253193.7	+	5	868	c.666G>A	c.(664-666)gcG>gcA	p.A222A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3			15	Esophageal squamous(110;0.137)				GCAGCGGGGCGCGCTCCACGC	0.741000																								0							SO:0001819	synonymous_variant			ENST00000253193.7	1	1	hg19	CCDS12430.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4	1	0	0	16	72	0	14	1	3.904595e-01	2	5	0	14	2		0	0	0	0	0	2	1	9.999498e-01	16	69	0	13	2								-20.000000	1	1	117726	1	20	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999733	0.990000	1	9.900000e-01	1
LRP3	4037	broad.mit.edu	37	19	33696652	33696652	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696652T>C	ENST00000253193.7	+	5	1178	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3			15	Esophageal squamous(110;0.137)				GCAGACGCTGTCCTACCGCAG	0.721000																								0							SO:0001583	missense			ENST00000253193.7	1	1	hg19	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627330	0.66901	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.18960	2.18	5.02	5.02	0.67125	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.60455	1.87	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.985;0.993;0.985	T	0.26677	-1.0096	10	0.54805	T	0.06	-44.833	13.9237	0.63950	0.0:0.0:0.0:1.0	.	200;326;244	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	P	200;326	ENSP00000253193:S326P	ENSP00000253193:S326P	S	+	1	0	LRP3	38388492	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.917000	0.63369	1.897000	0.54924	0.260000	0.18958	TCC		TCGA-IB-7651-01A-11D-2154-08	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4	1	0	0	17	90	0	17	1	9.138485e-01	5	20	0	17	2	0	0	0	1	0	0	2	1	9.999733e-01	17	87	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999384	0.990000	1	9.900000e-01	1
SLC7A10	56301	broad.mit.edu	37	19	33701722	33701722	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33701722C>A	ENST00000253188.4	-	8	1245	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10			18	Esophageal squamous(110;0.137)				ACGAGGAGGGCGGGGATGGGG	0.667000																								0							SO:0001583	missense			ENST00000253188.4	1	1	hg19	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725940	0.69074	.	.	ENSG00000130876	ENST00000253188	D	0.91521	-2.86	5.08	5.08	0.68730	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.90735	0.4645	10	0.16896	T	0.51	.	17.8044	0.88598	0.0:1.0:0.0:0.0	.	367;214	Q9NS82;Q9NWI3	AAA1_HUMAN;.	S	367	ENSP00000253188:A367S	ENSP00000253188:A367S	A	-	1	0	SLC7A10	38393562	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.590000	0.82653	2.536000	0.85505	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	0	0	1	128	510	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	124	504	0	131	2								-3.472002	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC7A10	56301	broad.mit.edu	37	19	33706682	33706682	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33706682G>T	ENST00000253188.4	-	2	495	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10			18	Esophageal squamous(110;0.137)				CACCCAGCCAGGCCCCCGAAG	0.652000																								0							SO:0001583	missense			ENST00000253188.4	0	1	hg19	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685885	0.68157	.	.	ENSG00000130876	ENST00000253188	D	0.90900	-2.75	4.79	4.79	0.61399	Amino acid permease domain (1);	0.076843	0.53938	D	0.000058	D	0.93651	0.7972	M	0.75615	2.305	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.93389	0.6750	10	0.72032	D	0.01	.	7.0484	0.25059	0.1969:0.0:0.8031:0.0	.	117	Q9NS82	AAA1_HUMAN	M	117	ENSP00000253188:L117M	ENSP00000253188:L117M	L	-	1	2	SLC7A10	38398522	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.879000	0.39618	2.240000	0.73641	0.456000	0.33151	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	0	0	0	3	19	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	8.130081e-01	3	19	0	7	2								-9.315748	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.470000	1.000000	1.000000	0.941139	0.990000	1	8.700000e-01	1
NFIC	4782	broad.mit.edu	37	19	3381920	3381920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3381920C>T	ENST00000443272.2	+	2	292	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIC_ENST00000589123.1_Missense_Mutation_p.R72C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C|NFIC_ENST00000395111.3_Missense_Mutation_p.R72C|NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000341919.3_Missense_Mutation_p.R81C	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)			21		Hepatocellular(1079;0.137)			GGCCAAGCTGCGCAAGGACAT	0.672000																								0							SO:0001583	missense			ENST00000443272.2	1	1	hg19	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363580	0.61513	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.78246	-1.16;-1.16;-1.16	3.88	1.71	0.24356	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.997;0.997	T	0.82851	-0.0253	10	0.87932	D	0	.	8.8194	0.35016	0.0:0.8083:0.0:0.1917	.	81;81;72;81;72	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	C	72;72;72;81;81;81	ENSP00000378543:R72C;ENSP00000301935:R72C;ENSP00000342194:R81C	ENSP00000269778:R81C	R	+	1	0	NFIC	3332920	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.438000	0.44837	0.251000	0.21505	-0.373000	0.07131	CGC		TCGA-IB-7651-01A-11D-2154-08	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	1	0	1	171	671	0	120	1	1	10	125	0	120	2		0	0	0	0	0	2	1	1	169	665	0	118	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST8	64377	broad.mit.edu	37	19	34263210	34263210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263210C>T	ENST00000262622.4	+	4	1275	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	CHST8_ENST00000438847.3_Missense_Mutation_p.R173C|CHST8_ENST00000434302.1_Missense_Mutation_p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8			27	Esophageal squamous(110;0.162)				GAGCAGCAGCCGCCGGGCCGT	0.706000																								0							SO:0001583	missense			ENST00000262622.4	1	1	hg19	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547527	0.65311	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75477	-0.94;-0.94;-0.94	4.93	4.93	0.64822	.	0.420672	0.21221	N	0.078156	T	0.76955	0.4060	L	0.32530	0.975	0.49582	D	0.9998	D	0.76494	0.999	D	0.63703	0.917	T	0.75233	-0.3390	10	0.36615	T	0.2	-4.1341	12.8387	0.57788	0.1745:0.8255:0.0:0.0	.	173	Q9H2A9	CHST8_HUMAN	C	173	ENSP00000392604:R173C;ENSP00000393879:R173C;ENSP00000262622:R173C	ENSP00000262622:R173C	R	+	1	0	CHST8	38955050	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.078000	0.41567	2.262000	0.75019	0.478000	0.44815	CGC		TCGA-IB-7651-01A-11D-2154-08	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	1	0	0	44	170	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	1	43	166	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST8	64377	broad.mit.edu	37	19	34263465	34263465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263465C>T	ENST00000262622.4	+	4	1530	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CHST8_ENST00000438847.3_Missense_Mutation_p.R258C|CHST8_ENST00000434302.1_Missense_Mutation_p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8			27	Esophageal squamous(110;0.162)				GCTCTTTGTCCGCGAGCCCTT	0.607000																								0							SO:0001583	missense			ENST00000262622.4	1	1	hg19	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581599	0.65992	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	D;D;D	0.94376	-3.41;-3.41;-3.41	4.73	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.97288	0.9113	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-3.592	13.2052	0.59790	0.1607:0.8393:0.0:0.0	.	258	Q9H2A9	CHST8_HUMAN	C	258	ENSP00000392604:R258C;ENSP00000393879:R258C;ENSP00000262622:R258C	ENSP00000262622:R258C	R	+	1	0	CHST8	38955305	1.000000	0.71417	0.587000	0.28692	0.791000	0.44710	4.738000	0.62073	0.943000	0.37553	0.297000	0.19635	CGC		TCGA-IB-7651-01A-11D-2154-08	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	1	0	1	114	491	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	1	111	480	0	96	2								-2.841594	1	1	121412	2	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST8	64377	broad.mit.edu	37	19	34263870	34263870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263870G>A	ENST00000262622.4	+	4	1935	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	CHST8_ENST00000438847.3_Missense_Mutation_p.A393T|CHST8_ENST00000434302.1_Missense_Mutation_p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8			27	Esophageal squamous(110;0.162)				CCAGTACTTCGCCCAACTCTC	0.602000																								0							SO:0001583	missense			ENST00000262622.4	1	1	hg19	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940439	0.18281	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74315	-0.83;-0.83;-0.83	5.01	1.49	0.22878	.	0.304937	0.30820	N	0.008803	T	0.60843	0.2300	L	0.43757	1.38	0.44985	D	0.998006	B	0.10296	0.003	B	0.13407	0.009	T	0.45906	-0.9229	10	0.23302	T	0.38	-16.628	7.4665	0.27324	0.0819:0.0:0.6276:0.2906	.	393	Q9H2A9	CHST8_HUMAN	T	393	ENSP00000392604:A393T;ENSP00000393879:A393T;ENSP00000262622:A393T	ENSP00000262622:A393T	A	+	1	0	CHST8	38955710	0.964000	0.33143	0.410000	0.26471	0.260000	0.26232	0.929000	0.28844	0.103000	0.17682	0.297000	0.19635	GCC		TCGA-IB-7651-01A-11D-2154-08	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	1	0	1	53	206	0	40	0	4.343248e-02	0	2	0	40	2		0	0	0	0	0	2	1	1	53	205	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFIC	4782	broad.mit.edu	37	19	3452485	3452485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3452485G>A	ENST00000443272.2	+	8	1141	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	NFIC_ENST00000589123.1_Missense_Mutation_p.A355T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T|NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000341919.3_Missense_Mutation_p.A364T	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)			21		Hepatocellular(1079;0.137)			CGCAGGGATCGCCCGGAGCCC	0.652000																								0							SO:0001583	missense			ENST00000443272.2	1	1	hg19	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665287	0.29604	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.46063	0.88;0.88;0.88	4.16	3.12	0.35913	.	0.208639	0.40908	N	0.001000	T	0.30634	0.0771	L	0.39020	1.185	0.28084	N	0.932087	B;B;B;B;B	0.23377	0.044;0.084;0.007;0.007;0.017	B;B;B;B;B	0.17979	0.01;0.02;0.004;0.004;0.012	T	0.15521	-1.0434	10	0.30078	T	0.28	.	10.8694	0.46875	0.0944:0.0:0.9056:0.0	.	364;364;355;364;355	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	T	355;355;331;364;364;364	ENSP00000378543:A355T;ENSP00000301935:A331T;ENSP00000342194:A364T	ENSP00000269778:A364T	A	+	1	0	NFIC	3403485	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.666000	0.46799	0.757000	0.33036	-0.226000	0.12346	GCC		TCGA-IB-7651-01A-11D-2154-08	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	1	0	1	312	1410	0	311	1	1	11	222	0	311	2		0	0	0	0	0	2	1	1	303	1371	0	304	2								-20.000000	1	1	121412	8	50	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LSM14A	26065	broad.mit.edu	37	19	34663663	34663663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34663663C>T	ENST00000433627.5	+	1	191	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LSM14A_ENST00000540746.2_Missense_Mutation_p.A39V|LSM14A_ENST00000544216.3_Missense_Mutation_p.A39V	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)			22	Esophageal squamous(110;0.162)				GTAGCCCTTGCCAAAGGTACG	0.687000																								0							SO:0001583	missense			ENST00000433627.5	1	1	hg19	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181813	0.94885	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.35236	1.32;1.33;1.4	4.75	4.75	0.60458	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.107342	0.64402	D	0.000006	T	0.61502	0.2352	M	0.84846	2.72	0.80722	D	1	D;B;P	0.57571	0.98;0.089;0.889	P;B;P	0.60541	0.876;0.187;0.731	T	0.66602	-0.5882	10	0.42905	T	0.14	-5.5106	17.3421	0.87299	0.0:1.0:0.0:0.0	.	39;39;39	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	V	39	ENSP00000446271:A39V;ENSP00000413964:A39V;ENSP00000446451:A39V	ENSP00000314768:A39V	A	+	2	0	LSM14A	39355503	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.225000	0.78051	2.171000	0.68590	0.484000	0.47621	GCC		TCGA-IB-7651-01A-11D-2154-08	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	1	0	0	17	95	0	28	1	1	88	292	0	28	2		0	0	0	0	0	2	1	9.999769e-01	17	94	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999079	0.990000	1	9.900000e-01	1
LSM14A	26065	broad.mit.edu	37	19	34710328	34710328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710328C>T	ENST00000433627.5	+	7	889	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C|LSM14A_ENST00000544216.3_Missense_Mutation_p.R272C	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	p.R272C(1)		22	Esophageal squamous(110;0.162)				AAGGAGAGGGCGTGGGGGTCA	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000433627.5	1	1	hg19	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.190986	0.58017	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.38401	1.18;1.16;1.14	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.80746	2.51	0.80722	D	1	B;D;B	0.89917	0.362;1.0;0.263	B;D;B	0.79784	0.117;0.993;0.051	T	0.62548	-0.6831	10	0.48119	T	0.1	-10.3844	14.8295	0.70137	0.1438:0.8562:0.0:0.0	.	231;272;272	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	C	272;272;231	ENSP00000446271:R272C;ENSP00000413964:R272C;ENSP00000446451:R231C	ENSP00000314768:R272C	R	+	1	0	LSM14A	39402168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.529000	0.60588	2.734000	0.93682	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	1	0	1	87	535	0	92	1	9.915379e-01	8	39	0	92	2		0	0	0	0	0	2	1	1	83	522	0	92	2								-2.879485	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LSM14A	26065	broad.mit.edu	37	19	34710699	34710699	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710699C>T	ENST00000433627.5	+	8	1128	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	LSM14A_ENST00000540746.2_Silent_p.A310A|LSM14A_ENST00000544216.3_Silent_p.A351A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)			22	Esophageal squamous(110;0.162)				AAGGAAATGCCGATGAAGAAG	0.353000																								0							SO:0001819	synonymous_variant			ENST00000433627.5	1	1	hg19	CCDS46040.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	1	0	1	36	139	0	30	1	1	103	359	0	30	2		0	0	0	0	0	2	1	1	34	137	0	30	2								-3.176552	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0355	9710	broad.mit.edu	37	19	34791678	34791678	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34791678C>A	ENST00000299505.6	+	2	1173	c.300C>A	c.(298-300)ctC>ctA	p.L100L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355			41	Esophageal squamous(110;0.162)				TCACAGATCTCTTCAGCACTG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000299505.6	1	1	hg19	CCDS12436.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	1	0	1	76	256	0	53	1	9.999351e-01	3	48	0	53	2		0	0	0	0	0	2	1	1	71	252	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0355	9710	broad.mit.edu	37	19	34832959	34832959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34832959C>T	ENST00000299505.6	+	10	2993	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355			41	Esophageal squamous(110;0.162)				CAGGCTGGGGCACACACACCT	0.632000																								0							SO:0001583	missense			ENST00000299505.6	1	1	hg19	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368916	0.61624	.	.	ENSG00000166398	ENST00000299505	T	0.25749	1.78	5.53	4.5	0.54988	.	0.548014	0.19528	N	0.112116	T	0.18841	0.0452	N	0.19112	0.55	0.35247	D	0.778351	B	0.02656	0.0	B	0.06405	0.002	T	0.11966	-1.0566	10	0.87932	D	0	-8.4863	13.4084	0.60926	0.0:0.9245:0.0:0.0755	.	707	O15063	K0355_HUMAN	V	707	ENSP00000299505:A707V	ENSP00000299505:A707V	A	+	2	0	KIAA0355	39524799	0.735000	0.28153	0.988000	0.46212	0.957000	0.61999	4.101000	0.57769	1.344000	0.45657	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	1	0	1	116	540	0	105	1	9.992290e-01	7	44	0	105	2		0	0	0	0	0	2	1	1	114	524	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPI	2821	broad.mit.edu	37	19	34884918	34884918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34884918G>A	ENST00000356487.5	+	12	1250	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	GPI_ENST00000415930.3_Missense_Mutation_p.A348T|GPI_ENST00000586425.1_Missense_Mutation_p.A337T	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase			25	Esophageal squamous(110;0.162)				TGAGACACACGCCATGCTGCC	0.602000																								0							SO:0001583	missense			ENST00000356487.5	0	1	hg19	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681633	0.68042	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94687	-3.49;-3.49	5.48	4.45	0.53987	.	0.154506	0.56097	D	0.000022	D	0.97031	0.9030	M	0.87547	2.89	0.80722	D	1	P;D;P;D	0.60160	0.944;0.987;0.944;0.972	P;P;P;B	0.61874	0.499;0.895;0.499;0.44	D	0.97544	1.0088	10	0.87932	D	0	-10.4711	14.2882	0.66258	0.0717:0.0:0.9283:0.0	.	309;348;310;337	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	T	348;337	ENSP00000405573:A348T;ENSP00000348877:A337T	ENSP00000348877:A337T	A	+	1	0	GPI	39576758	1.000000	0.71417	0.077000	0.20336	0.030000	0.12068	7.635000	0.83286	1.327000	0.45338	-0.145000	0.13849	GCC		TCGA-IB-7651-01A-11D-2154-08	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3	0	0	0	20	519	0	84	1	1	54	845	0	84	2		0	0	0	0	0	2	1	9.999944e-01	18	511	0	81	2								-3.132693	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.450000	0.280000	1.000000	0.440000	0.500549	0.450000	0	3.500000e-01	6.000000e-01
GPI	2821	broad.mit.edu	37	19	34887303	34887303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34887303G>A	ENST00000356487.5	+	13	1401	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D	GPI_ENST00000415930.3_Missense_Mutation_p.G398D|GPI_ENST00000586425.1_Missense_Mutation_p.G387D	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase			25	Esophageal squamous(110;0.162)				GGGACCAATGGCCAGCATGCT	0.562000																								0							SO:0001583	missense			ENST00000356487.5	1	1	hg19	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419485	0.96111	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.92858	-3.12;-3.12	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.999	D;D;D;D	0.83275	0.994;0.995;0.994;0.996	D	0.96163	0.9117	10	0.87932	D	0	-10.4995	19.622	0.95660	0.0:0.0:1.0:0.0	.	359;398;360;387	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	D	398;387	ENSP00000405573:G398D;ENSP00000348877:G387D	ENSP00000348877:G387D	G	+	2	0	GPI	39579143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.792000	0.99085	2.647000	0.89833	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3	1	0	1	62	277	0	86	1	1	387	871	0	86	2		0	0	0	0	0	2	1	1	59	271	0	85	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBA2	10054	broad.mit.edu	37	19	34925772	34925772	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34925772G>T	ENST00000246548.4	+	5	428		c.e5-1		UBA2_ENST00000439527.2_Splice_Site	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2			20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)		TTTACTTCCAGCTGCCCGAAA	0.353000																								0							SO:0001630	splice_region_variant			ENST00000246548.4	0	1	hg19	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210801	0.79240	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1589	0.89702	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBA2	39617612	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.095000	0.94175	2.570000	0.86706	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	1	0	1	17	29	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999907e-01	17	28	0	15	2								-18.421900	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
UBA2	10054	broad.mit.edu	37	19	34957800	34957800	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34957800A>G	ENST00000246548.4	+	16	1692	c.1622A>G	c.(1621-1623)gAc>gGc	p.D541G	UBA2_ENST00000592791.1_Missense_Mutation_p.D67G|UBA2_ENST00000439527.2_Missense_Mutation_p.D445G	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	p.D541V(1)		20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)		CTAGGAAAGGACGTTGAATTT	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000246548.4	1	1	hg19	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543855	0.86022	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.61040	0.14;1.3	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.65975	2.015	0.80722	D	1	B	0.32653	0.379	B	0.31686	0.134	T	0.61950	-0.6957	10	0.66056	D	0.02	-19.6184	14.8649	0.70406	1.0:0.0:0.0:0.0	.	541	Q9UBT2	SAE2_HUMAN	G	541;445	ENSP00000246548:D541G;ENSP00000437484:D445G	ENSP00000246548:D541G	D	+	2	0	UBA2	39649640	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.479000	0.90431	2.213000	0.71641	0.455000	0.32223	GAC		TCGA-IB-7651-01A-11D-2154-08	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	1	0	1	28	179	0	49	1	1	15	173	0	49	2		0	0	0	0	0	2	1	1	27	177	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999572	0.990000	1	9.900000e-01	1
WTIP	126374	broad.mit.edu	37	19	34991053	34991053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34991053G>T	ENST00000590071.2	+	8	1509	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein			4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)		CTGCAGCTGAGCGGGGAGGAG	0.677000																								0							SO:0001583	missense			ENST00000590071.2	1	1	hg19	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275618	0.59649	.	.	ENSG00000142279	ENST00000270288	D	0.87966	-2.32	4.35	3.04	0.35103	Zinc finger, LIM-type (4);	0.180578	0.50627	D	0.000107	D	0.91068	0.7189	M	0.85373	2.75	0.35499	D	0.799668	D	0.61697	0.99	D	0.63877	0.919	D	0.91846	0.5487	10	0.72032	D	0.01	.	3.9293	0.09278	0.3703:0.0:0.6297:0.0	.	615	A6NIX2	WTIP_HUMAN	I	615	ENSP00000270288:S615I	ENSP00000270288:S615I	S	+	2	0	WTIP	39682893	1.000000	0.71417	0.995000	0.50966	0.570000	0.35934	3.870000	0.56070	2.101000	0.63845	0.305000	0.20034	AGC		TCGA-IB-7651-01A-11D-2154-08	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	1	0	1	24	141	0	29	1	9.999715e-01	23	80	0	29	2		0	0	0	0	0	2	1	9.999998e-01	24	139	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999673	0.990000	1	9.900000e-01	1
ZNF792	126375	broad.mit.edu	37	19	35449350	35449350	+	Missense_Mutation	SNP	C	C	T	rs146414036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35449350C>T	ENST00000404801.1	-	4	1795	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792			12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		AGTGTGAACTCGCTGATGTTT	0.512000													GBM(1;7 183 21053 22581 22847)											0							SO:0001583	missense			ENST00000404801.1	1	1	hg19	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	18.09	3.545878	0.65198	0.0	1.16E-4	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.24723	1.84	2.61	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42653	0.1212	M	0.69463	2.115	0.23076	N	0.998336	D	0.89917	1.0	D	0.66497	0.944	T	0.13255	-1.0516	9	0.87932	D	0	.	7.4294	0.27118	0.0:0.8604:0.0:0.1396	.	470	Q3KQV3	ZN792_HUMAN	Q	470;230	ENSP00000385099:R470Q	ENSP00000368487:R230Q	R	-	2	0	ZNF792	40141190	0.000000	0.05858	0.136000	0.22124	0.920000	0.55202	0.774000	0.26675	0.665000	0.31066	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	1	0	1	108	462	0	132	1	9.371781e-01	5	17	0	132	2		0	0	0	0	0	2	1	1	108	460	0	130	2								-3.363199	1	1	121410	6	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRAMD1A	57655	broad.mit.edu	37	19	35501086	35501086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35501086G>A	ENST00000317991.5	+	5	608	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R226H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A			19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		AACATCTTCCGCTGGGAGACC	0.657000																								0							SO:0001583	missense			ENST00000317991.5	1	0	hg19	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490486	0.96339	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.87412	-2.25;-2.25	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.992;0.974	D	0.94105	0.7365	10	0.59425	D	0.04	.	16.6817	0.85294	0.0:0.0:1.0:0.0	.	139;139;132;226	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	226;139;132	ENSP00000441032:R139H;ENSP00000439267:R132H	ENSP00000441032:R139H	R	+	2	0	GRAMD1A	40192926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.462000	0.97649	2.793000	0.96121	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	1	0	0	28	732	0	122	1	9.993007e-01	17	272	0	122	2		0	0	0	0	0	2	1	1	26	728	0	122	2								-3.156309	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.440000	0.290000	1.000000	0.440000	0.493378	0.440000	0	3.600000e-01	5.600000e-01
GRAMD1A	57655	broad.mit.edu	37	19	35504583	35504583	+	Silent	SNP	C	C	T	rs149214732	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35504583C>T	ENST00000317991.5	+	9	1050	c.858C>T	c.(856-858)gaC>gaT	p.D286D	GRAMD1A_ENST00000504615.2_Silent_p.D52D|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Silent_p.D373D|GRAMD1A_ENST00000411896.2_Silent_p.D279D	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A			19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		CCAGCAGCGACGCAGACCATG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000317991.5	1	0	hg19	CCDS42546.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	0	0	1	53	275	0	50	1	1	64	195	0	50	2		0	0	0	0	0	2	1	1	51	271	0	48	2								-4.252788	1	1	120986	96	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN1B	6324	broad.mit.edu	37	19	35524462	35524462	+	Silent	SNP	C	C	T	rs140949982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35524462C>T	ENST00000262631.5	+	3	404	c.267C>T	c.(265-267)cgC>cgT	p.R89R	SCN1B_ENST00000415950.3_Silent_p.R89R|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron|CTD-2527I21.9_ENST00000601692.1_RNA	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit			11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCGAGGGCCGCGTGGTGTGGA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000262631.5	1	0	hg19	CCDS12441.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1	1	0	1	189	908	0	154	1	9.999799e-01	22	52	0	154	2		0	0	0	0	0	2	1	1	187	892	1	151	23								-4.719845	1	1	121412	85	55	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HPN	3249	broad.mit.edu	37	19	35550662	35550662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35550662C>T	ENST00000262626.2	+	5	1071	c.246C>T	c.(244-246)aaC>aaT	p.N82N	HPN_ENST00000392226.1_Silent_p.N82N|HPN_ENST00000600675.1_3'UTR|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.N34N	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin			19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	Coagulation factor VIIa(DB00036)	CGCGCTCCAACGCCAGGGTAG	0.682000																								0							SO:0001819	synonymous_variant			ENST00000262626.2	0	1	hg19	CCDS32993.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	1	0	1	10	39	0	10	1	9.731228e-01	3	25	0	10	2		0	0	0	0	0	2	1	9.976433e-01	10	38	0	10	2								-19.784660	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998771	0.990000	1	9.900000e-01	1
LGI4	163175	broad.mit.edu	37	19	35616231	35616231	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35616231G>T	ENST00000310123.3	-	9	1999	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4			10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		GGAGGCCCCAGCTCCTGCAGT	0.652000																								0							SO:0001583	missense			ENST00000310123.3	1	1	hg19	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908672	0.52439	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.69175	-0.38	5.15	2.97	0.34412	.	0.000000	0.51477	D	0.000092	T	0.75532	0.3862	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.74509	-0.3642	10	0.87932	D	0	.	7.5644	0.27870	0.2695:0.0:0.7305:0.0	.	494	Q8N135	LGI4_HUMAN	M	494;495	ENSP00000312273:L494M	ENSP00000312273:L494M	L	-	1	2	LGI4	40308071	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.295000	0.43576	0.552000	0.29026	-0.350000	0.07774	CTG		TCGA-IB-7651-01A-11D-2154-08	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1	1	0	1	56	195	0	45	1	8.732186e-01	3	12	0	45	2		0	0	0	0	0	2	1	1	55	194	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FXYD5	53827	broad.mit.edu	37	19	35657206	35657206	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35657206C>T	ENST00000342879.3	+	7	1243	c.465C>T	c.(463-465)atC>atT	p.I155I	FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Silent_p.I155I|FXYD5_ENST00000543307.1_Silent_p.I155I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000423817.3_Silent_p.I155I|FXYD5_ENST00000588699.1_Silent_p.I155I|FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000541435.2_Silent_p.I155I			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5			9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		TGCTGTTCATCACAGGCATCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000342879.3	0	1	hg19	CCDS12447.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	0	0	0	14	896	0	183	1	9.999430e-01	14	1094	0	183	2		0	0	0	0	0	2	1	9.997184e-01	14	880	0	181	2								-2.807960	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.190000	0.100000	1.000000	0.190000	0.259342	0.190000	0	1.400000e-01	2.700000e-01
HMG20B	10362	broad.mit.edu	37	19	3576607	3576607	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3576607C>A	ENST00000333651.6	+	7	651	c.576C>A	c.(574-576)ttC>ttA	p.F192L	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B			1		Hepatocellular(1079;0.137)			CTGAAGAGTTCTTGGACCAAA	0.572000																								0							SO:0001583	missense			ENST00000333651.6	1	1	hg19	CCDS45919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.504858|4.504858	0.85176|0.85176	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949|ENST00000402569	D;T|.	0.85556|.	-2.0;-0.74|.	4.87|4.87	1.54|1.54	0.23209|0.23209	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.72510|0.72510	0.3469|0.3469	M|M	0.85197|0.85197	2.74|2.74	0.46749|0.46749	D|D	0.999183|0.999183	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.71076|0.71076	-0.4697|-0.4697	10|6	0.40728|0.87932	T|D	0.16|0	-23.6179|-23.6179	7.2297|7.2297	0.26036|0.26036	0.0:0.6278:0.0:0.3722|0.0:0.6278:0.0:0.3722	.|.	192;192|.	A8K0D5;Q9P0W2|.	.;HM20B_HUMAN|.	L|Y	192;192;209|23	ENSP00000410924:F192L;ENSP00000328269:F192L|.	ENSP00000262949:F209L|ENSP00000385987:S23Y	F|S	+|+	3|2	2|0	HMG20B|HMG20B	3527607|3527607	0.277000|0.277000	0.24220|0.24220	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	-0.222000|-0.222000	0.09190|0.09190	0.116000|0.116000	0.18110|0.18110	0.561000|0.561000	0.74099|0.74099	TTC|TCT		TCGA-IB-7651-01A-11D-2154-08	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	1	0	1	25	76	0	30	1	1	138	328	0	30	2		0	0	0	0	0	2	1	1	25	76	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD22	933	broad.mit.edu	37	19	35836007	35836007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35836007G>T	ENST00000085219.5	+	11	2252	c.2186G>T	c.(2185-2187)aGc>aTc	p.S729I	MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000341773.6_Missense_Mutation_p.S552I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I|CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000544992.2_Missense_Mutation_p.S729I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule			54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		AGCGGCCAGAGCTTCTTTGTG	0.552000													Ovarian(42;1009 1133 23674 26041)											0							SO:0001583	missense			ENST00000085219.5	1	1	hg19	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304738	0.60305	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000419549	T;T;T;T;T	0.56444	0.95;0.54;0.46;0.94;1.01	5.32	3.03	0.35002	.	0.239865	0.30085	N	0.010457	T	0.64864	0.2637	M	0.75447	2.3	0.30270	N	0.792324	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.963;0.999;0.992;0.992;0.999	T	0.60398	-0.7271	10	0.20519	T	0.43	.	6.9595	0.24590	0.0941:0.174:0.7319:0.0	.	557;729;641;729;552	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	I	729;641;552;729;557	ENSP00000085219:S729I;ENSP00000442279:S641I;ENSP00000339349:S552I;ENSP00000441237:S729I;ENSP00000403822:S557I	ENSP00000085219:S729I	S	+	2	0	CD22	40527847	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	2.117000	0.41939	1.245000	0.43885	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	1	0	1	71	383	0	97	0	3.056969e-01	0	7	0	97	2		0	0	0	0	0	2	1	1	69	373	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD22	933	broad.mit.edu	37	19	35837493	35837493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35837493G>T	ENST00000085219.5	+	14	2503	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y|CD22_ENST00000594250.1_Missense_Mutation_p.D636Y|CD22_ENST00000544992.2_3'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule			54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		CGTCATTCCAGATTTTCCAGA	0.542000													Ovarian(42;1009 1133 23674 26041)											0							SO:0001583	missense			ENST00000085219.5	1	1	hg19	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791871	0.50102	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.58358	0.79;0.4;0.34;0.66;0.87	4.58	-5.01	0.02991	.	1.852020	0.02603	N	0.101271	T	0.54679	0.1873	L	0.29908	0.895	0.09310	N	1	D;P;D;D	0.71674	0.981;0.558;0.991;0.998	P;B;P;D	0.64776	0.592;0.12;0.687;0.929	T	0.56019	-0.8048	10	0.59425	D	0.04	.	6.3034	0.21125	0.5514:0.1399:0.3087:0.0	.	641;725;813;636	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Y	813;725;636;628;641	ENSP00000085219:D813Y;ENSP00000442279:D725Y;ENSP00000339349:D636Y;ENSP00000270311:D628Y;ENSP00000403822:D641Y	ENSP00000085219:D813Y	D	+	1	0	CD22	40529333	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.350000	0.20079	-0.575000	0.05982	-0.384000	0.06662	GAT		TCGA-IB-7651-01A-11D-2154-08	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	1	0	1	11	54	0	11	0	8.031256e-01	0	17	0	11	2		0	0	0	0	0	2	1	9.984617e-01	11	51	0	11	2								-19.878000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997805	0.990000	1	9.900000e-01	1
FFAR3	2865	broad.mit.edu	37	19	35850667	35850667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35850667G>A	ENST00000327809.4	+	2	1076	c.875G>A	c.(874-876)aGg>aAg	p.R292K	FFAR3_ENST00000594310.1_Missense_Mutation_p.R292K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3			17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		GAGCTGCTGAGGAGGTTGTGT	0.592000													Esophageal Squamous(185;1742 2042 21963 24215 27871)											0							SO:0001583	missense			ENST00000327809.4	0	1	hg19	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611728	0.14066	.	.	ENSG00000185897	ENST00000327809	T	0.37235	1.21	4.65	0.542	0.17174	.	2.645630	0.02352	U	0.075988	T	0.21841	0.0526	N	0.24115	0.695	0.09310	N	1	B	0.19935	0.04	B	0.13407	0.009	T	0.17048	-1.0382	10	0.02654	T	1	-0.3835	6.7057	0.23250	0.106:0.429:0.465:0.0	.	292	O14843	FFAR3_HUMAN	K	292	ENSP00000328230:R292K	ENSP00000328230:R292K	R	+	2	0	FFAR3	40542507	0.023000	0.18921	0.087000	0.20705	0.020000	0.10135	0.467000	0.22035	0.474000	0.27392	-0.391000	0.06502	AGG		TCGA-IB-7651-01A-11D-2154-08	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	0	0	0	50	203	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	28	106	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIPC3	126326	broad.mit.edu	37	19	3586949	3586949	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3586949C>T	ENST00000322315.5	+	3	594	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	p.Q184E(1)		10					TGCCCAAGTCCCAGCCCTTCA	0.657000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000322315.5	1	1	hg19	CCDS32871.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	1	0	1	34	138	0	33	0	4.966975e-01	0	8	0	33	2		0	0	0	0	0	2	1	1	34	132	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBXA2R	6915	broad.mit.edu	37	19	3595695	3595695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3595695C>T	ENST00000375190.4	-	3	1416	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A212T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor			8		Hepatocellular(1079;0.137)		Ridogrel(DB01207)	CCTACTGCAGCCCGGAGCGCT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000375190.4	0	1	hg19	CCDS42467.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2	0	0	0	15	35	0	11	0	7.399462e-01	0	8	0	11	2		0	0	0	0	0	2	1	9.999449e-01	15	34	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
TBXA2R	6915	broad.mit.edu	37	19	3600484	3600484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3600484G>A	ENST00000375190.4	-	2	542	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor			8		Hepatocellular(1079;0.137)		Ridogrel(DB01207)	CCGCGCGCCCGCCAGCACGCT	0.697000																								0							SO:0001583	missense			ENST00000375190.4	1	1	hg19	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382300	0.11524	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.56	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.421699	0.23405	N	0.048533	T	0.16385	0.0394	L	0.35723	1.085	0.26961	N	0.965801	B;P	0.36086	0.031;0.536	B;B	0.28385	0.011;0.089	T	0.22591	-1.0212	10	0.02654	T	1	-16.8206	3.4159	0.07376	0.29:0.0:0.5265:0.1836	.	50;50	P21731;E2QRJ2	TA2R_HUMAN;.	V	50	ENSP00000393333:A50V;ENSP00000364336:A50V	ENSP00000364336:A50V	A	-	2	0	TBXA2R	3551484	0.822000	0.29219	0.371000	0.25978	0.224000	0.24922	1.946000	0.40283	0.441000	0.26529	-0.652000	0.03908	GCG		TCGA-IB-7651-01A-11D-2154-08	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2	1	0	1	29	200	0	33	0	3.296693e-01	0	9	0	33	2		0	0	0	0	0	2	1	1	29	195	0	31	2								-3.319745	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999078	0.990000	1	9.900000e-01	1
SBSN	374897	broad.mit.edu	37	19	36018273	36018273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36018273G>A	ENST00000452271.2	-	1	939	c.911C>T	c.(910-912)gCg>gTg	p.A304V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin			14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		GGCCTGCCCCGCAGCATGGTG	0.652000																								0							SO:0001583	missense			ENST00000452271.2	0	1	hg19	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195340	0.09599	.	.	ENSG00000189001	ENST00000452271	T	0.40756	1.02	4.47	-8.94	0.00768	.	.	.	.	.	T	0.24084	0.0583	L	0.29908	0.895	0.09310	N	0.999999	B	0.14438	0.01	B	0.10450	0.005	T	0.22243	-1.0222	9	0.21540	T	0.41	.	10.4751	0.44659	0.2641:0.1889:0.547:0.0	.	304	E9PBV3	.	V	304	ENSP00000430242:A304V	ENSP00000430242:A304V	A	-	2	0	SBSN	40710113	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.346000	0.00503	-1.618000	0.01568	-0.672000	0.03802	GCG		TCGA-IB-7651-01A-11D-2154-08	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	0	0	0	8	96	0	14	0	1.787390e-01	0	9	0	14	2		0	0	0	0	0	2		0	0	0	0	0	2								-5.318226	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.960000	0.450000	1.000000	1.000000	0.870231	0.960000	1	6.700000e-01	1
GAPDHS	26330	broad.mit.edu	37	19	36029283	36029283	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36029283C>A	ENST00000222286.4	+	3	436	c.320C>A	c.(319-321)cCa>cAa	p.P107Q	AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic			11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		GTGAATGATCCATTCATTGAC	0.582000																								0							SO:0001583	missense			ENST00000222286.4	1	1	hg19	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960297	0.92791	.	.	ENSG00000105679	ENST00000222286	T	0.30182	1.54	5.3	5.3	0.74995	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80079	-0.1532	10	0.87932	D	0	-13.3742	16.4475	0.83942	0.0:1.0:0.0:0.0	.	107	O14556	G3PT_HUMAN	Q	107	ENSP00000222286:P107Q	ENSP00000222286:P107Q	P	+	2	0	GAPDHS	40721123	1.000000	0.71417	0.890000	0.34922	0.957000	0.61999	7.745000	0.85046	2.450000	0.82876	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	1	0	1	24	120	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	9.999998e-01	23	116	0	36	2								-2.749484	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
GAPDHS	26330	broad.mit.edu	37	19	36033285	36033285	+	Missense_Mutation	SNP	G	G	A	rs147678774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36033285G>A	ENST00000222286.4	+	5	630	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic			11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		GTCCACAGGCGTGTACCTCTC	0.632000																								0							SO:0001583	missense			ENST00000222286.4	1	1	hg19	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909016	0.72868	.	.	ENSG00000105679	ENST00000222286	T	0.48522	0.81	5.24	3.08	0.35506	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.144521	0.45867	D	0.000336	T	0.65450	0.2692	M	0.86343	2.81	0.58432	D	0.999999	D	0.61697	0.99	P	0.60609	0.877	T	0.69877	-0.5026	10	0.72032	D	0.01	-17.6641	8.7846	0.34811	0.1862:0.0:0.8138:0.0	.	172	O14556	G3PT_HUMAN	M	172	ENSP00000222286:V172M	ENSP00000222286:V172M	V	+	1	0	GAPDHS	40725125	1.000000	0.71417	0.839000	0.33178	0.907000	0.53573	4.529000	0.60588	1.355000	0.45865	-0.448000	0.05591	GTG		TCGA-IB-7651-01A-11D-2154-08	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	0	0	0	9	201	0	56	0	2.436000e-03	0	2	0	56	2		0	0	0	0	0	2	1	9.941444e-01	9	198	0	56	2								-11.230190	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.540000	0.260000	1.000000	0.500000	0.583088	0.540000	0	3.800000e-01	7.900000e-01
TMEM147	10430	broad.mit.edu	37	19	36037431	36037431	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36037431C>T	ENST00000222284.5	+	3	296	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_Silent_p.L2L|TMEM147_ENST00000392205.1_Silent_p.L51L|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147			6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		TTCTCAGATGCTGTTCTTGGC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000222284.5	1	1	hg19	CCDS12466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	1	0	0	41	211	0	54	1	1	178	493	0	54	2		0	0	0	0	0	2	1	1	41	207	0	53	2								-19.991130	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ATP4A	495	broad.mit.edu	37	19	36046143	36046143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36046143C>T	ENST00000262623.3	-	15	2279	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide			53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TTGGCAGCATCTGAGCCAGCG	0.602000																								0							SO:0001583	missense			ENST00000262623.3	1	1	hg19	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418517	0.83559	.	.	ENSG00000105675	ENST00000262623	D	0.98550	-4.99	4.66	4.66	0.58398	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99357	0.9774	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98344	1.0540	10	0.87932	D	0	.	15.0789	0.72099	0.0:1.0:0.0:0.0	.	751	P20648	ATP4A_HUMAN	N	751	ENSP00000262623:D751N	ENSP00000262623:D751N	D	-	1	0	ATP4A	40737983	1.000000	0.71417	0.888000	0.34837	0.752000	0.42762	7.651000	0.83577	2.425000	0.82216	0.462000	0.41574	GAT		TCGA-IB-7651-01A-11D-2154-08	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	1	78	255	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	78	250	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP4A	495	broad.mit.edu	37	19	36050049	36050049	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050049G>A	ENST00000262623.3	-	8	1129	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	p.C367C(1)		53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCTTGACCACGCAGTTCTTAC	0.617000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000262623.3	1	1	hg19	CCDS12467.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	1	171	852	1	244		0	0	0	1	244	2		0	0	0	0	0	2	1	1	167	843	1	243	15								-20.000000	1	1	121412	1	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP4A	495	broad.mit.edu	37	19	36050771	36050771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050771G>T	ENST00000262623.3	-	7	1020	c.992C>A	c.(991-993)gCc>gAc	p.A331D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide			53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GAAGACCATGGCCCGCAGGAA	0.587000																								0							SO:0001583	missense			ENST00000262623.3	1	1	hg19	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475950	0.84640	.	.	ENSG00000105675	ENST00000262623	D	0.91180	-2.8	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000006	D	0.94631	0.8269	M	0.80847	2.515	0.80722	D	1	D	0.61080	0.989	D	0.68483	0.958	D	0.95198	0.8314	10	0.87932	D	0	.	13.5911	0.61961	0.0:0.0:1.0:0.0	.	331	P20648	ATP4A_HUMAN	D	331	ENSP00000262623:A331D	ENSP00000262623:A331D	A	-	2	0	ATP4A	40742611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.559000	0.98135	2.146000	0.66826	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	1	53	224	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	52	219	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP4A	495	broad.mit.edu	37	19	36053540	36053540	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36053540C>T	ENST00000262623.3	-	4	245	c.217G>A	c.(217-219)Ggc>Agc	p.G73S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide			53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCAGAGAGGCCCTGGGACAGA	0.672000																								0							SO:0001630	splice_region_variant			ENST00000262623.3	0	1	hg19	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.982953	0.74474	.	.	ENSG00000105675	ENST00000262623	D	0.99660	-6.32	3.45	3.45	0.39498	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.50627	D	0.000111	D	0.99711	0.9889	H	0.96430	3.82	0.51233	D	0.999913	D	0.89917	1.0	D	0.97110	1.0	D	0.97331	0.9950	10	0.87932	D	0	.	12.4861	0.55874	0.0:1.0:0.0:0.0	.	73	P20648	ATP4A_HUMAN	S	73	ENSP00000262623:G73S	ENSP00000262623:G73S	G	-	1	0	ATP4A	40745380	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.266000	0.78452	1.762000	0.52044	0.465000	0.42564	GGC		TCGA-IB-7651-01A-11D-2154-08	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	0	0	0	12	60	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.993403e-01	11	60	0	14	2								-19.996980	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998245	0.990000	1	9.900000e-01	1
ATP4A	495	broad.mit.edu	37	19	36054427	36054427	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36054427C>T	ENST00000262623.3	-	2	43	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide			53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCTCATAGTTCTCCTGGGAAT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000262623.3	1	1	hg19	CCDS12467.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	1	187	733	0	162		0	0	0	0	162	2		0	0	0	0	0	2	1	1	185	710	0	161	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAUS5	23354	broad.mit.edu	37	19	36106154	36106154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36106154G>T	ENST00000203166.5	+	6	376	c.351G>T	c.(349-351)caG>caT	p.Q117H	HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5			16					AGGCACGTCAGCACACTCAAG	0.647000																								0							SO:0001583	missense			ENST00000203166.5	1	1	hg19	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478730	0.26511	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.33216	1.42;1.42	5.52	2.13	0.27403	.	0.377447	0.27473	N	0.019217	T	0.28797	0.0714	M	0.69823	2.125	0.09310	N	1	B	0.18013	0.025	B	0.15052	0.012	T	0.31024	-0.9958	10	0.72032	D	0.01	-5.4362	5.3833	0.16204	0.1877:0.1629:0.6493:0.0	.	117	O94927	HAUS5_HUMAN	H	117	ENSP00000439056:Q117H;ENSP00000444373:Q117H	ENSP00000439056:Q117H	Q	+	3	2	HAUS5	40797994	0.950000	0.32346	0.066000	0.19879	0.002000	0.02628	1.781000	0.38644	0.250000	0.21479	-0.145000	0.13849	CAG		TCGA-IB-7651-01A-11D-2154-08	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1	24	140	0	40	1	9.684264e-01	12	24	0	40	2		0	0	0	0	0	2	1	9.999998e-01	24	137	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999697	0.990000	1	9.900000e-01	1
HAUS5	23354	broad.mit.edu	37	19	36109545	36109545	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109545G>A	ENST00000203166.5	+	12	985	c.960G>A	c.(958-960)caG>caA	p.Q320Q	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5			16					TCTTGACCCAGCGCCTCCAGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000203166.5	1	1	hg19	CCDS42550.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1	69	326	0	77	1	9.936184e-01	12	27	0	77	2		0	0	0	0	0	2	1	1	69	322	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAUS5	23354	broad.mit.edu	37	19	36109792	36109792	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109792G>T	ENST00000203166.5	+	13	1045	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5			16					CCTGCAGGCAGGTGCTGATAC	0.617000																								0							SO:0001583	missense			ENST00000203166.5	1	1	hg19	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166373	0.21621	.	.	ENSG00000249115	ENST00000203166	T	0.30981	1.51	5.6	0.544	0.17185	.	0.532571	0.19741	N	0.107130	T	0.34774	0.0909	L	0.55481	1.735	0.37242	D	0.906142	P	0.44195	0.828	P	0.50617	0.646	T	0.27191	-1.0081	10	0.41790	T	0.15	-18.8135	8.1581	0.31183	0.3865:0.0:0.6135:0.0	.	340	O94927	HAUS5_HUMAN	H	340	ENSP00000439056:Q340H	ENSP00000439056:Q340H	Q	+	3	2	HAUS5	40801632	0.906000	0.30813	0.475000	0.27278	0.012000	0.07955	0.237000	0.17985	0.325000	0.23359	-0.217000	0.12591	CAG		TCGA-IB-7651-01A-11D-2154-08	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1	33	302	0	48	1	8.868334e-01	4	33	0	48	2		0	0	0	0	0	2	1	1	32	294	0	48	2								-3.318794	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.830000	1.000000	1.000000	0.985841	0.990000	1	9.900000e-01	1
HAUS5	23354	broad.mit.edu	37	19	36113851	36113851	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36113851C>T	ENST00000203166.5	+	19	1883	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5			16					GTGGCGGCTGCGCTGGGTTCA	0.657000																								0							SO:0001583	missense			ENST00000203166.5	1	1	hg19	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.027513	0.54683	2.69E-4	0.0	ENSG00000249115	ENST00000203166	T	0.38560	1.13	5.09	5.09	0.68999	.	0.058422	0.64402	D	0.000005	T	0.61602	0.2360	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.64732	-0.6338	10	0.87932	D	0	-17.7701	13.8634	0.63574	0.0:1.0:0.0:0.0	.	620	O94927	HAUS5_HUMAN	C	620	ENSP00000439056:R620C	ENSP00000439056:R620C	R	+	1	0	HAUS5	40805691	1.000000	0.71417	0.995000	0.50966	0.069000	0.16628	2.329000	0.43876	2.659000	0.90383	0.596000	0.82720	CGC		TCGA-IB-7651-01A-11D-2154-08	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	1	82	366	0	68	1	9.157565e-01	7	13	0	68	2		0	0	0	0	0	2	1	1	81	353	0	65	2								-3.316288	1	1	120610	10	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42			21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		GGACCGGAATCTGGACGTGGT	0.617000																								0							SO:0001583	missense			ENST00000262633.4	1	1	hg19	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262941	0.39995	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06528	3.29;3.34	6.07	5.04	0.67666	.	0.171732	0.48767	D	0.000162	T	0.06872	0.0175	L	0.28014	0.82	0.47341	D	0.999399	P;B;P;B	0.44659	0.56;0.22;0.84;0.141	B;B;P;B	0.48304	0.437;0.101;0.573;0.047	T	0.30179	-0.9987	10	0.31617	T	0.26	-10.995	7.2472	0.26129	0.1696:0.7478:0.0:0.0826	.	430;435;434;464	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	M	464;435	ENSP00000262633:L464M;ENSP00000353663:L435M	ENSP00000262633:L464M	L	+	1	2	RBM42	40820243	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.934000	0.40163	2.885000	0.99019	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	1	0	1	46	263	0	76	1	1	140	329	0	76	2		0	0	0	0	0	2	1	1	46	260	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ETV2	2116	broad.mit.edu	37	19	36134268	36134268	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36134268G>T	ENST00000403402.1	+	4	634	c.328G>T	c.(328-330)Ggc>Tgc	p.G110C	ETV2_ENST00000479824.1_Missense_Mutation_p.G17C|ETV2_ENST00000402764.2_Missense_Mutation_p.G110C|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000379026.2_Missense_Mutation_p.G138C			O00321	ETV2_HUMAN	ets variant 2			2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		GCAGACCCTGGGCCCCGCCCC	0.741000																								0							SO:0001583	missense			ENST00000403402.1	0	1	hg19	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	g	18.79	3.698179	0.68386	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379021;ENST00000403402	T;T;T	0.44083	0.93;0.93;0.93	3.87	2.84	0.33178	.	3.921250	0.01179	N	0.007058	T	0.54062	0.1835	L	0.29908	0.895	0.25390	N	0.988537	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.80764	0.829;0.994;0.829	T	0.41945	-0.9480	10	0.87932	D	0	.	7.0931	0.25295	0.1211:0.0:0.8789:0.0	.	109;138;110	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	C	138;110;110;110	ENSP00000368312:G138C;ENSP00000384524:G110C;ENSP00000385369:G110C	ENSP00000368307:G110C	G	+	1	0	ETV2	40826108	0.168000	0.22989	0.515000	0.27774	0.052000	0.14988	0.816000	0.27267	1.221000	0.43506	0.556000	0.70494	GGC		TCGA-IB-7651-01A-11D-2154-08	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	1	0	0	10	41	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.978505e-01	10	41	0	8	2								-19.803130	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998520	0.990000	1	9.900000e-01	1
UPK1A	11045	broad.mit.edu	37	19	36166803	36166803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36166803C>T	ENST00000222275.2	+	5	530	c.530C>T	c.(529-531)gCg>gTg	p.A177V	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.A177V	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A			9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		GCCTTCCGGGCGGCCACTCCG	0.642000																								0							SO:0001583	missense			ENST00000222275.2	0	1	hg19	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	C	6.033	0.374512	0.11409	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.79247	-1.25;-1.25	4.98	-0.367	0.12541	Tetraspanin, EC2 domain (1);	0.584934	0.15940	N	0.237240	T	0.53029	0.1771	N	0.08118	0	0.09310	N	1	P;P	0.38280	0.625;0.618	B;B	0.28465	0.088;0.09	T	0.36383	-0.9750	10	0.23302	T	0.38	-6.5041	15.524	0.75887	0.4122:0.5877:0.0:0.0	.	177;177	O00322-2;O00322	.;UPK1A_HUMAN	V	177	ENSP00000222275:A177V;ENSP00000368298:A177V	ENSP00000222275:A177V	A	+	2	0	UPK1A	40858643	0.000000	0.05858	0.077000	0.20336	0.294000	0.27393	-0.378000	0.07446	-0.101000	0.12219	-1.624000	0.00789	GCG		TCGA-IB-7651-01A-11D-2154-08	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3	0	0	0	25	251	1	51	0	9.050824e-03	0	2	1	51	2		0	0	0	0	0	2	1	9.133258e-01	25	245	1	51	17								-3.221884	1	1	121412	1	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.720000	1.000000	1.000000	0.961929	0.990000	1	8.900000e-01	1
UPK1A	11045	broad.mit.edu	37	19	36168745	36168745	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36168745A>G	ENST00000222275.2	+	6	680	c.680A>G	c.(679-681)gAc>gGc	p.D227G	UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A			9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CACGCCATCGACAGCTACACG	0.642000																								0							SO:0001583	missense			ENST00000222275.2	0	1	hg19	CCDS12470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.140171|3.140171	0.56936|0.56936	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.79247|0.06768	-1.25|3.26	5.43|5.43	5.43|5.43	0.79202|0.79202	Tetraspanin, EC2 domain (1);|.	.|0.948870	.|0.08490	.|U	.|0.938098	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.22421|0.22421	0.69|0.69	0.34787|0.34787	D|D	0.735353|0.735353	B|B	0.22851|0.31817	0.076|0.341	B|B	0.28011|0.30782	0.085|0.12	T|T	0.21008|0.21008	-1.0258|-1.0258	9|10	0.42905|0.87932	T|D	0.14|0	-6.5984|-6.5984	11.853|11.853	0.52422|0.52422	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227|260	O00322|O00322-2	UPK1A_HUMAN|.	G|A	227|260	ENSP00000222275:D227G|ENSP00000368298:T260A	ENSP00000222275:D227G|ENSP00000368298:T260A	D|T	+|+	2|1	0|0	UPK1A|UPK1A	40860585|40860585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.958000|5.958000	0.70330|0.70330	2.054000|2.054000	0.61138|0.61138	0.379000|0.379000	0.24179|0.24179	GAC|ACA		TCGA-IB-7651-01A-11D-2154-08	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3	1	0	0	14	159	0	21	0	2.187982e-02	1	2	0	21	2		0	0	0	0	0	2	1	9.997674e-01	14	156	0	21	2								-6.888644	1	1	121402	1	21	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.560000	1.000000	1.000000	0.906334	0.990000	1	7.500000e-01	1
ZBTB32	27033	broad.mit.edu	37	19	36205967	36205967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36205967G>T	ENST00000392197.2	+	3	757	c.439G>T	c.(439-441)Gag>Tag	p.E147*	KMT2B_ENST00000341701.1_5'Flank|ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32			14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		GGACCCTGGAGAGAAGCAGAA	0.547000																								0							SO:0001587	stop_gained			ENST00000392197.2	0	1	hg19	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	7.091	0.572239	0.13623	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	5.2	0.103	0.14526	.	0.463445	0.18365	N	0.143458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.4779	7.9708	0.30126	0.3984:0.0:0.6016:0.0	.	.	.	.	X	147	.	ENSP00000262630:E147X	E	+	1	0	ZBTB32	40897807	0.091000	0.21658	0.010000	0.14722	0.360000	0.29518	0.189000	0.17037	0.218000	0.20820	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	1	0	1	41	217	0	54	1	3.784577e-01	2	6	0	54	2		0	0	0	0	0	2	1	1	41	213	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
C19orf55	0	broad.mit.edu	37	19	36253018	36253018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36253018C>A	ENST00000544099.1	+	4	473	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y			Q2NL68	PRSR3_HUMAN				15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CAGTCTGACTCTCCAGACCCC	0.582000																								0							SO:0001583	missense			ENST00000544099.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.99	3.739653	0.69304	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.59	3.55	0.40652	.	0.191988	0.25885	N	0.027669	T	0.61173	0.2326	M	0.64997	1.995	0.09310	N	1	D;D;D	0.69078	0.994;0.997;0.997	P;D;D	0.80764	0.874;0.994;0.994	T	0.50709	-0.8796	10	0.62326	D	0.03	-2.4722	8.6048	0.33767	0.0:0.8937:0.0:0.1063	.	137;137;137	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	Y	52;137;137;52;52	ENSP00000394231:S52Y;ENSP00000380116:S137Y;ENSP00000301165:S137Y;ENSP00000440357:S52Y	ENSP00000301165:S137Y	S	+	2	0	C19orf55	40944858	0.000000	0.05858	0.004000	0.12327	0.583000	0.36354	0.394000	0.20834	1.266000	0.44231	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2	0	0	0	38	162	1	41	1	5.173940e-01	6	8	1	41	3		0	0	0	0	0	2	1	9.994289e-01	38	156	1	41	16								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP33	115703	broad.mit.edu	37	19	36278174	36278174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36278174G>A	ENST00000007510.4	+	21	2851	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T			O14559	RHG33_HUMAN	Rho GTPase activating protein 33			37					CATGGCCCTGGCCCTGGCTGA	0.692000																								0							SO:0001583	missense			ENST00000007510.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.15	3.316283	0.60524	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.27557	1.78;1.66;2.01	4.91	3.84	0.44239	.	0.314786	0.24016	N	0.042336	T	0.31482	0.0798	L	0.58101	1.795	0.32584	N	0.528092	B;B;B	0.18461	0.028;0.021;0.021	B;B;B	0.18561	0.016;0.022;0.015	T	0.40459	-0.9562	10	0.59425	D	0.04	.	12.694	0.56992	0.0:0.3178:0.6822:0.0	.	903;767;742	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	T	903;742;767	ENSP00000007510:A903T;ENSP00000320038:A742T;ENSP00000368227:A767T	ENSP00000007510:A903T	A	+	1	0	ARHGAP33	40970014	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.237000	0.58681	0.996000	0.38943	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	68	267	0	70	0	4.240339e-02	0	2	0	70	2		0	0	0	0	0	2	1	1	67	263	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPHS1	4868	broad.mit.edu	37	19	36332624	36332624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36332624G>A	ENST00000378910.5	-	20	2807	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	NPHS1_ENST00000353632.6_Silent_p.V936V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)			74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		TACTGATGCTGACAAGTTGAA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000378910.5	1	1	hg19	CCDS32996.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	1	0	1	28	177	0	60	0	2.020624e-02	0	2	0	60	2		0	0	0	0	0	2	1	1	27	175	0	58	2								-3.323560	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999626	0.990000	1	9.900000e-01	1
NPHS1	4868	broad.mit.edu	37	19	36339215	36339215	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339215C>T	ENST00000378910.5	-	10	1254	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)			74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		TCACTGAAGGCCTCACATGTG	0.592000																								0							SO:0001583	missense			ENST00000378910.5	1	1	hg19	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067564	0.55539	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.91351	-2.83;-2.83	5.43	4.38	0.52667	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183078	0.46758	D	0.000271	D	0.95198	0.8443	M	0.82517	2.595	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.95525	0.8598	10	0.72032	D	0.01	-25.7883	13.8765	0.63655	0.0:0.8458:0.1542:0.0	.	419	O60500	NPHN_HUMAN	T	419	ENSP00000368190:A419T;ENSP00000343634:A419T	ENSP00000343634:A419T	A	-	1	0	NPHS1	41031055	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.341000	0.65964	1.259000	0.44117	-0.282000	0.10007	GCC		TCGA-IB-7651-01A-11D-2154-08	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	1	0	0	22	395	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.999985e-01	22	386	0	69	2								-5.670379	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.640000	0.410000	1.000000	0.620000	0.672436	0.640000	0	5.100000e-01	8.300000e-01
NPHS1	4868	broad.mit.edu	37	19	36339963	36339963	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339963T>G	ENST00000378910.5	-	8	926	c.927A>C	c.(925-927)gaA>gaC	p.E309D	NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)			74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CTCCATGGTCTTCTGGCCTCA	0.657000																								0							SO:0001583	missense			ENST00000378910.5	1	1	hg19	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787798	0.49997	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78003	-1.14;-1.14	5.32	3.09	0.35607	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117636	0.56097	D	0.000033	T	0.80539	0.4642	L	0.57536	1.79	0.35805	D	0.823421	D	0.71674	0.998	D	0.63033	0.91	T	0.80004	-0.1564	10	0.42905	T	0.14	-17.3468	5.0005	0.14262	0.0:0.4743:0.0:0.5257	.	309	O60500	NPHN_HUMAN	D	309	ENSP00000368190:E309D;ENSP00000343634:E309D	ENSP00000343634:E309D	E	-	3	2	NPHS1	41031803	0.987000	0.35691	1.000000	0.80357	0.443000	0.32047	0.012000	0.13287	0.368000	0.24481	0.378000	0.23410	GAA		TCGA-IB-7651-01A-11D-2154-08	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	1	0	1	72	408	0	86	0	0	0	1	0	86	2		0	0	0	0	0	2	1	1	70	407	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPHS1	4868	broad.mit.edu	37	19	36340237	36340237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36340237C>T	ENST00000378910.5	-	7	740	c.741G>A	c.(739-741)tgG>tgA	p.W247*	NPHS1_ENST00000353632.6_Nonsense_Mutation_p.W247*|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)			74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CCAGGCCTGGCCACTCGATGA	0.637000																								0							SO:0001587	stop_gained			ENST00000378910.5	0	1	hg19	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	37	6.074847	0.97262	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	.	.	.	4.96	4.96	0.65561	.	0.000000	0.45126	D	0.000398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-12.0577	13.646	0.62281	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000343634:W247X	W	-	3	0	NPHS1	41032077	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	1.486000	0.35530	2.602000	0.87976	0.586000	0.80456	TGG		TCGA-IB-7651-01A-11D-2154-08	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1	0	0	0	7	180	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.800914e-01	7	177	0	26	2								-9.326658	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.480000	0.210000	1.000000	0.440000	0.530544	0.480000	0	3.200000e-01	7.300000e-01
KIRREL2	84063	broad.mit.edu	37	19	36348369	36348369	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36348369G>A	ENST00000360202.5	+	2	382	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)			48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		GAGTGGGCTGGCCCTAGGGGG	0.647000																								0							SO:0001583	missense			ENST00000360202.5	1	1	hg19	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061013	0.93846	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658	T;T	0.67171	-0.25;-0.25	5.35	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000215	T	0.75679	0.3882	L	0.58354	1.805	0.36210	D	0.85129	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.987;0.987;0.978	T	0.80520	-0.1346	10	0.87932	D	0	-14.889	9.3277	0.38003	0.0961:0.0:0.9039:0.0	.	62;62;62	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	T	62	ENSP00000262625:A62T;ENSP00000353331:A62T	ENSP00000262625:A62T	A	+	1	0	KIRREL2	41040209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.156000	0.71840	2.672000	0.90937	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	1	0	1	112	469	0	92	0	9.831965e-02	0	3	0	92	2		0	0	0	0	0	2	1	1	112	464	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIRREL2	84063	broad.mit.edu	37	19	36349719	36349719	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36349719C>T	ENST00000360202.5	+	4	673	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	KIRREL2_ENST00000262625.7_Silent_p.L159L|KIRREL2_ENST00000592409.1_Silent_p.L159L|KIRREL2_ENST00000347900.6_Silent_p.L109L|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)			48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CCCTGAATTGCTGTGGTTCCG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000360202.5	1	1	hg19	CCDS12481.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	1	0	0	110	482	0	118	0	6.342054e-01	0	11	0	118	2		0	0	0	0	0	2	1	1	107	475	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIRREL2	84063	broad.mit.edu	37	19	36351456	36351456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36351456G>A	ENST00000360202.5	+	7	1013	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)			48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CTCGGGGCCCGCGGGCCAAGG	0.652000																								0							SO:0001583	missense			ENST00000360202.5	1	1	hg19	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	17.73	3.462092	0.63513	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.68903	-0.36;-0.14;-0.34	3.99	3.99	0.46301	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180262	0.27084	N	0.021010	T	0.59985	0.2234	N	0.17872	0.535	0.31437	N	0.672468	D;D;D;D;D	0.67145	0.983;0.979;0.992;0.996;0.996	P;P;P;P;P	0.59643	0.685;0.557;0.861;0.855;0.855	T	0.55062	-0.8199	10	0.06494	T	0.89	-10.5667	11.8642	0.52484	0.0:0.0:1.0:0.0	.	272;252;272;222;272	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	H	272;222;272;252	ENSP00000262625:R272H;ENSP00000345067:R222H;ENSP00000353331:R272H	ENSP00000262625:R272H	R	+	2	0	KIRREL2	41043296	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	2.235000	0.43044	2.257000	0.74773	0.444000	0.29173	CGC		TCGA-IB-7651-01A-11D-2154-08	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	0	0	1	116	432	1	73	0	3.757502e-01	0	6	1	73	2		0	0	0	0	0	2	1	1	114	429	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIRREL2	84063	broad.mit.edu	37	19	36355551	36355551	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36355551G>A	ENST00000360202.5	+	14	1925	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	KIRREL2_ENST00000262625.7_Splice_Site_p.G576D|KIRREL2_ENST00000592409.1_Splice_Site_p.G541D|KIRREL2_ENST00000347900.6_Splice_Site_p.G526D|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)			48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CTACCCCAGGGCCCCATTGTG	0.597000																								0							SO:0001630	splice_region_variant			ENST00000360202.5	1	0	hg19	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855359	0.51376	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.67698	-0.27;-0.04;-0.28	4.05	4.05	0.47172	.	0.410909	0.18096	N	0.151833	T	0.68943	0.3056	L	0.44542	1.39	0.37330	D	0.909922	P;D;P;D;D	0.63046	0.954;0.973;0.954;0.992;0.992	P;P;P;P;P	0.54544	0.476;0.676;0.476;0.755;0.676	T	0.74166	-0.3753	10	0.54805	T	0.06	-5.1472	12.4423	0.55631	0.0:0.0:1.0:0.0	.	576;556;576;526;576	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	D	576;526;576;556;87	ENSP00000262625:G576D;ENSP00000345067:G526D;ENSP00000353331:G576D	ENSP00000262625:G576D	G	+	2	0	KIRREL2	41047391	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	2.618000	0.46393	2.221000	0.72209	0.313000	0.20887	GGC		TCGA-IB-7651-01A-11D-2154-08	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	1	0	1	62	206	0	52	1	4.233112e-01	3	3	0	52	2		0	0	0	0	0	2	1	1	60	204	0	52	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APLP1	333	broad.mit.edu	37	19	36362206	36362206	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36362206G>T	ENST00000221891.4	+	4	684	c.492G>T	c.(490-492)atG>atT	p.M164I	APLP1_ENST00000537454.2_Missense_Mutation_p.M125I|APLP1_ENST00000586861.1_Missense_Mutation_p.M158I|NPHS1_ENST00000591817.1_5'Flank	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1			33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		AGGAGCGCATGGACCAATGTG	0.627000																								0							SO:0001583	missense			ENST00000221891.4	1	1	hg19	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.867486	0.91587	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94497	-3.34;-3.44	4.86	4.86	0.63082	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.56097	D	0.000027	D	0.96664	0.8911	M	0.72894	2.215	0.54753	D	0.999987	P;P;D;D	0.58620	0.917;0.901;0.979;0.983	P;B;D;D	0.72338	0.857;0.398;0.961;0.977	D	0.96868	0.9637	10	0.56958	D	0.05	-12.826	15.4941	0.75634	0.0:0.0:1.0:0.0	.	158;125;164;164	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	I	125;164	ENSP00000441501:M125I;ENSP00000221891:M164I	ENSP00000221891:M164I	M	+	3	0	APLP1	41054046	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.620000	0.67736	2.257000	0.74773	0.479000	0.44913	ATG		TCGA-IB-7651-01A-11D-2154-08	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	1	0	1	19	82	0	24	1	9.922071e-01	2	36	0	24	2		0	0	0	0	0	2	1	9.999949e-01	19	81	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
APLP1	333	broad.mit.edu	37	19	36363452	36363452	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36363452G>T	ENST00000221891.4	+	7	1110	c.918G>T	c.(916-918)gaG>gaT	p.E306D	APLP1_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1			33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		AAATCAGTGAGCACGAGGGGT	0.577000																								0							SO:0001583	missense			ENST00000221891.4	1	1	hg19	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108567	0.77096	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.59638	0.25;0.25	4.89	3.84	0.44239	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.48286	D	0.000197	T	0.71829	0.3386	M	0.77486	2.375	0.44282	D	0.99714	D;D;D;D	0.89917	0.979;1.0;0.998;0.999	P;D;D;D	0.80764	0.837;0.994;0.915;0.949	T	0.73914	-0.3832	10	0.66056	D	0.02	-23.1084	7.9565	0.30047	0.1894:0.0:0.8106:0.0	.	300;267;306;306	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	D	267;306	ENSP00000441501:E267D;ENSP00000221891:E306D	ENSP00000221891:E306D	E	+	3	2	APLP1	41055292	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.027000	0.30115	2.270000	0.75569	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	0	0	0	27	717	0	149	0	4.539648e-01	1	40	0	149	2		0	0	0	0	0	2	1	9.469611e-01	27	702	1	148	17								-3.642935	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.440000	0.290000	1.000000	0.430000	0.487643	0.440000	0	3.600000e-01	5.600000e-01
NFKBID	84807	broad.mit.edu	37	19	36387361	36387361	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36387361G>A	ENST00000396901.1	-	7	911	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V|NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta			14					ATGGTCAGCGGCATTGGGCTC	0.627000																								0							SO:0001583	missense			ENST00000396901.1	1	1	hg19	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398000	0.25205	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.67865	-0.29;-0.29	4.81	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.119358	0.56097	D	0.000032	T	0.59932	0.2230	L	0.39147	1.195	0.80722	D	1	B;B	0.27416	0.178;0.066	B;B	0.34418	0.182;0.053	T	0.58814	-0.7570	10	0.49607	T	0.09	.	11.8805	0.52574	0.0:0.0:0.8239:0.1761	.	265;113	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	V	265;113	ENSP00000252985:A265V;ENSP00000380109:A113V	ENSP00000252985:A265V	A	-	2	0	NFKBID	41079201	0.996000	0.38824	0.886000	0.34754	0.625000	0.37756	3.571000	0.53841	0.958000	0.37956	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	0	0	0	39	414	1	87	0	2.183562e-01	1	9	1	87	2		0	0	0	0	0	2	1	9.985755e-01	39	408	1	86	18								-3.318794	1	1	120996	12	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.740000	1.000000	1.000000	0.957185	0.990000	1	8.800000e-01	1
LRFN3	79414	broad.mit.edu	37	19	36435681	36435681	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36435681C>A	ENST00000588831.1	+	4	2701	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A	AF038458.3_ENST00000592518.1_lincRNA|LRFN3_ENST00000246529.3_Silent_p.A549A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3			12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		TCATCGTAGCCTCGGTACTGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000588831.1	1	1	hg19	CCDS12483.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	1	0	1	35	129	0	29	1	8.569128e-01	2	13	0	29	2		0	0	0	0	0	2	1	1	35	129	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIP5K1C	23396	broad.mit.edu	37	19	3644083	3644083	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3644083A>G	ENST00000335312.3	-	12	1599		c.e12+1		PIP5K1C_ENST00000537021.1_Splice_Site|PIP5K1C_ENST00000539785.1_Splice_Site|PIP5K1C_ENST00000589578.1_Splice_Site	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma			9		Hepatocellular(1079;0.137)			TCTGCCCCTCACCTTCGTCCT	0.711000													Esophageal Squamous(135;99 1744 12852 27186 39851)											0							SO:0001630	splice_region_variant			ENST00000335312.3	1	1	hg19	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395140	0.25205	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	.	.	.	4.66	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8133	0.46559	0.8408:0.1592:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP5K1C	3595083	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	6.952000	0.75989	0.644000	0.30656	-0.513000	0.04457	.		TCGA-IB-7651-01A-11D-2154-08	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	0	0	1	74	370	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	72	368	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALKBH6	84964	broad.mit.edu	37	19	36501912	36501912	+	Missense_Mutation	SNP	G	G	A	rs149341422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36501912G>A	ENST00000252984.7	-	6	372	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ALKBH6_ENST00000495116.2_Intron|SYNE4_ENST00000340477.5_5'Flank|ALKBH6_ENST00000486389.1_Missense_Mutation_p.R51W|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000324444.3_5'Flank|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)			9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		GGGGGCAGCCGCTCAGGAACC	0.597000																								0							SO:0001583	missense			ENST00000252984.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.9	4.068299	0.76301	4.54E-4	0.0	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.30448	1.53;1.53;1.53	5.25	2.96	0.34315	.	.	.	.	.	T	0.35219	0.0924	N	0.24115	0.695	0.30420	N	0.778241	D;D;D;D	0.76494	0.993;0.999;0.998;0.999	P;P;P;P	0.59948	0.533;0.866;0.849;0.825	T	0.27434	-1.0074	9	0.72032	D	0.01	.	10.652	0.45653	0.0:0.0:0.6546:0.3454	.	74;95;102;74	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	W	102;74;74;74	ENSP00000368152:R102W;ENSP00000436742:R74W;ENSP00000252984:R74W	ENSP00000252984:R74W	R	-	1	2	ALKBH6	41193752	0.061000	0.20836	0.980000	0.43619	0.994000	0.84299	1.723000	0.38053	1.169000	0.42739	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	1	0	1	34	96	0	28	1	1	39	78	0	28	2		0	0	0	0	0	2	1	1	33	94	0	26	2								-20.000000	1	1	121398	11	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP3	25999	broad.mit.edu	37	19	36507083	36507083	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36507083G>A	ENST00000360535.4	-	14	1848	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	ALKBH6_ENST00000495116.2_5'Flank|CLIP3_ENST00000593074.1_Silent_p.L541L|ALKBH6_ENST00000486389.1_5'Flank|ALKBH6_ENST00000252984.7_5'Flank|ALKBH6_ENST00000378875.3_5'Flank|AC002116.7_ENST00000586962.1_RNA|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_5'Flank	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3			23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		TCCGCCCTCAGCATCCAGGGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000360535.4	1	1	hg19	CCDS12486.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	1	0	0	36	144	0	42	0	9.981193e-01	0	41	0	42	2		0	0	0	0	0	2	1	1	36	141	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP3	25999	broad.mit.edu	37	19	36508882	36508882	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36508882T>C	ENST00000360535.4	-	10	1422	c.1195A>G	c.(1195-1197)Acc>Gcc	p.T399A	CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3			23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		GATGATGGGGTCTTCTTCTTG	0.597000																								0							SO:0001583	missense			ENST00000360535.4	1	1	hg19	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	T	6.363	0.435008	0.12045	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.71461	-0.57	4.77	0.103	0.14526	Cytoskeleton-associated protein, Gly-rich domain (1);	0.627025	0.15831	N	0.242503	T	0.40145	0.1105	N	0.08118	0	0.21802	N	0.999539	B	0.10296	0.003	B	0.06405	0.002	T	0.17531	-1.0366	10	0.11794	T	0.64	-4.0832	3.6991	0.08375	0.3297:0.0:0.4571:0.2133	.	399	Q96DZ5	CLIP3_HUMAN	A	399;281;375	ENSP00000353732:T399A	ENSP00000353732:T399A	T	-	1	0	CLIP3	41200722	0.990000	0.36364	0.132000	0.22025	0.937000	0.57800	0.774000	0.26675	-0.164000	0.10927	-0.527000	0.04329	ACC		TCGA-IB-7651-01A-11D-2154-08	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	0	0	0	8	226	0	50	0	4.753935e-01	1	42	0	50	2		0	0	0	0	0	2	1	9.891662e-01	8	223	0	49	2								-3.702539	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.430000	0.200000	1.000000	0.400000	0.488456	0.430000	0	3.000000e-01	6.500000e-01
CLIP3	25999	broad.mit.edu	37	19	36517067	36517067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517067G>A	ENST00000360535.4	-	6	890	c.663C>T	c.(661-663)ggC>ggT	p.G221G	CLIP3_ENST00000593074.1_Silent_p.G221G|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	p.G221G(1)		23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		CAGGGTTGGCGCCGTGCTCCA	0.637000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000360535.4	1	1	hg19	CCDS12486.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	1	0	1	67	215	0	50	0	9.993076e-01	0	38	0	50	2		0	0	0	0	0	2	1	1	67	213	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP3	25999	broad.mit.edu	37	19	36517509	36517509	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517509G>T	ENST00000360535.4	-	5	768	c.541C>A	c.(541-543)Ctg>Atg	p.L181M	CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3			23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		GCACCCTTCAGCAGCACACGC	0.677000																								0							SO:0001583	missense			ENST00000360535.4	1	1	hg19	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160054	0.78226	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.72505	-0.66	4.59	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.83459	0.5259	M	0.87456	2.885	0.49687	D	0.999814	D	0.76494	0.999	D	0.87578	0.998	D	0.84463	0.0595	10	0.54805	T	0.06	-9.9424	8.5079	0.33199	0.1034:0.0:0.8966:0.0	.	181	Q96DZ5	CLIP3_HUMAN	M	181;63;157	ENSP00000353732:L181M	ENSP00000353732:L181M	L	-	1	2	CLIP3	41209349	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.996000	0.49449	2.382000	0.81193	0.455000	0.32223	CTG		TCGA-IB-7651-01A-11D-2154-08	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	1	0	1	32	199	0	35	0	7.349395e-01	0	18	0	35	2		0	0	0	0	0	2	1	1	30	194	0	34	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999838	0.990000	1	9.900000e-01	1
WDR62	284403	broad.mit.edu	37	19	36590347	36590347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36590347G>A	ENST00000270301.7	+	22	2567	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	WDR62_ENST00000401500.2_Missense_Mutation_p.R856H			O43379	WDR62_HUMAN	WD repeat domain 62			43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		CACGCCAAGCGCAGCTACCAG	0.622000																								0							SO:0001583	missense			ENST00000270301.7	1	1	hg19	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994775	0.54041	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.47177	0.85;0.85	5.31	3.19	0.36642	.	0.319061	0.27223	N	0.020349	T	0.40040	0.1101	M	0.67953	2.075	0.80722	D	1	B;B	0.32893	0.389;0.175	B;B	0.27796	0.083;0.023	T	0.33574	-0.9863	10	0.42905	T	0.14	-17.2774	7.2465	0.26125	0.1954:0.0:0.8046:0.0	.	856;856	O43379-4;O43379	.;WDR62_HUMAN	H	856	ENSP00000384792:R856H;ENSP00000270301:R856H	ENSP00000270301:R856H	R	+	2	0	WDR62	41282187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.029000	0.41098	1.243000	0.43853	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	1	0	1	64	302	0	68	0	2.877545e-01	1	5	0	68	2		0	0	0	0	0	2	1	1	63	299	0	67	2								-3.278236	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPNS1	826	broad.mit.edu	37	19	36636953	36636953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36636953G>A	ENST00000246533.3	+	8	1199	c.601G>A	c.(601-603)Gca>Aca	p.A201T	CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T|CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1			5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		CTTTGAGGCAGCAGGTATGGC	0.572000													Esophageal Squamous(129;1541 1691 5780 18353 34150)											0							SO:0001583	missense			ENST00000246533.3	1	1	hg19	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.324394	0.81580	.	.	ENSG00000126247	ENST00000246533	T	0.47869	0.83	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72494	-0.4276	10	0.72032	D	0.01	.	16.5532	0.84477	0.0:0.0:1.0:0.0	.	201	P04632	CPNS1_HUMAN	T	201	ENSP00000246533:A201T	ENSP00000246533:A201T	A	+	1	0	CAPNS1	41328793	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	8.821000	0.92009	2.576000	0.86940	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2	1	0	1	211	909	0	227	1	1	409	819	0	227	2		0	0	0	0	0	2	1	1	206	880	0	218	2								-20.000000	1	1	121412	2	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF565	147929	broad.mit.edu	37	19	36673443	36673443	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36673443G>A	ENST00000355114.5	-	5	2271	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF565_ENST00000304116.5_Silent_p.Y475Y|ZNF565_ENST00000392173.2_Silent_p.Y475Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565			11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)		CTCTACATTCGTAAGGTTTGA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000355114.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	1	0	1	52	231	0	55	1	3.837866e-01	5	2	0	55	2		0	0	0	0	0	2	1	1	51	230	0	54	2								-3.452324	1	1	121412	1	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFP14	57677	broad.mit.edu	37	19	36831798	36831798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36831798C>A	ENST00000270001.7	-	5	1045	c.930G>T	c.(928-930)aaG>aaT	p.K310N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein			26	Esophageal squamous(110;0.162)				ATTCATAGAGCTTTTCAGCAG	0.418000																								0							SO:0001583	missense			ENST00000270001.7	1	1	hg19	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.428675	0.43122	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26067	1.76	3.92	-2.22	0.06952	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000215	T	0.38081	0.1027	M	0.70787	2.145	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.65987	0.94;0.94	T	0.28681	-1.0036	10	0.87932	D	0	.	5.1856	0.15182	0.1533:0.2845:0.0:0.5622	.	310;310	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	310	ENSP00000270001:K310N	ENSP00000270001:K310N	K	-	3	2	ZFP14	41523638	0.022000	0.18835	0.988000	0.46212	0.970000	0.65996	-0.718000	0.04980	-0.155000	0.11098	-0.311000	0.09066	AAG		TCGA-IB-7651-01A-11D-2154-08	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	1	0	1	90	401	0	93	0	8.443689e-01	1	16	0	93	2		0	0	0	0	0	2	1	1	92	393	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFP82	284406	broad.mit.edu	37	19	36884325	36884325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36884325G>T	ENST00000392161.3	-	5	1159	c.917C>A	c.(916-918)gCt>gAt	p.A306D	ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein			25					GAGCCTGTCAGCACTATTAAG	0.443000																								0							SO:0001583	missense			ENST00000392161.3	1	1	hg19	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211222	0.58343	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.14516	2.5;2.5	4.15	1.73	0.24493	Zinc finger, C2H2 (1);	0.374530	0.19582	N	0.110835	T	0.11537	0.0281	N	0.04043	-0.29	0.29207	N	0.874812	P	0.50528	0.936	P	0.59424	0.857	T	0.04307	-1.0961	10	0.87932	D	0	.	6.202	0.20581	0.1084:0.2875:0.6041:0.0	.	306	Q8N141	ZFP82_HUMAN	D	306	ENSP00000431265:A306D;ENSP00000446080:A306D	ENSP00000431265:A306D	A	-	2	0	ZFP82	41576165	0.000000	0.05858	0.997000	0.53966	0.980000	0.70556	0.338000	0.19858	1.064000	0.40671	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	1	0	1	106	502	0	110	0	2.137569e-01	0	5	0	110	2		0	0	0	0	0	2	1	1	104	492	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF566	84924	broad.mit.edu	37	19	36940724	36940724	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36940724G>A	ENST00000434377.2	-	5	493	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	ZNF566_ENST00000454319.1_Missense_Mutation_p.H139Y|ZNF566_ENST00000493391.1_Missense_Mutation_p.H34Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H138Y|ZNF566_ENST00000392170.2_Missense_Mutation_p.H139Y	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566			24	Esophageal squamous(110;0.162)				TGATTGAAATGTCCCCCCTGA	0.398000																								0							SO:0001583	missense			ENST00000434377.2	0	1	hg19	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.848285	0.00067	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.05717	3.54;3.54;3.54;3.54;3.4;6.02	3.72	2.66	0.31614	.	1.022170	0.07830	N	0.961247	T	0.05181	0.0138	L	0.39514	1.22	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.001;0.004	T	0.46762	-0.9168	10	0.02654	T	1	.	6.6291	0.22847	0.0:0.2007:0.5923:0.207	.	139;138	B7ZL95;Q969W8	.;ZN566_HUMAN	Y	139;138;139;138;138;139	ENSP00000394207:H139Y;ENSP00000415520:H138Y;ENSP00000376010:H139Y;ENSP00000401259:H138Y;ENSP00000411526:H138Y;ENSP00000400651:H139Y	ENSP00000376010:H139Y	H	-	1	0	ZNF566	41632564	0.000000	0.05858	0.035000	0.18076	0.288000	0.27193	0.123000	0.15708	1.117000	0.41842	0.555000	0.69702	CAT		TCGA-IB-7651-01A-11D-2154-08	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	0	0	0	15	990	0	245	0	1.324641e-02	0	11	0	245	2		0	0	0	0	0	2	1	9.998484e-01	15	971	0	242	2								-2.921533	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.180000	0.100000	1.000000	0.170000	0.253366	0.180000	0	1.300000e-01	2.500000e-01
ZNF260	339324	broad.mit.edu	37	19	37005025	37005025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005025G>T	ENST00000523638.1	-	3	2237	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L|ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260			15	Esophageal squamous(110;0.162)				CAAGGGTTGAGAACTGAGAAA	0.423000																								0							SO:0001583	missense			ENST00000523638.1	1	1	hg19	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	G	5.310	0.242476	0.10077	.	.	ENSG00000254004	ENST00000523638	T	0.59083	0.29	4.17	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	N	0.03294	-0.36	0.09310	N	0.999996	B	0.34015	0.435	B	0.32393	0.145	T	0.07028	-1.0794	9	0.20046	T	0.44	.	11.7824	0.52021	0.0:0.1799:0.8201:0.0	.	372	Q3ZCT1	ZN260_HUMAN	L	372	ENSP00000429803:F372L	ENSP00000429803:F372L	F	-	3	2	ZNF260	41696865	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-2.041000	0.01415	2.286000	0.76751	0.561000	0.74099	TTC		TCGA-IB-7651-01A-11D-2154-08	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	1	0	1	97	445	0	97	1	9.641942e-01	5	22	0	97	2		0	0	0	0	0	2	1	1	94	436	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF260	339324	broad.mit.edu	37	19	37005586	37005586	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005586G>T	ENST00000523638.1	-	3	1676	c.555C>A	c.(553-555)atC>atA	p.I185I	ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000593142.1_Silent_p.I185I|ZNF260_ENST00000588993.1_Silent_p.I185I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260			15	Esophageal squamous(110;0.162)				TTCCAGTATGGATGTTCTGAT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000523638.1	1	1	hg19	CCDS33003.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	0	0	0	28	821	0	183	0	2.475022e-01	0	28	0	183	2		0	0	0	0	0	2	1	1	29	811	0	179	2								-3.032676	1	1	121410	4	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.400000	0.260000	1.000000	0.390000	0.450478	0.400000	0	3.200000e-01	5.100000e-01
ZNF382	84911	broad.mit.edu	37	19	37117875	37117875	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37117875A>C	ENST00000292928.2	+	5	1189	c.1076A>C	c.(1075-1077)aAg>aCg	p.K359T	ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T|ZNF382_ENST00000435416.1_Missense_Mutation_p.K358T|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382			34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		GATTGTGGGAAGTCCTTCCGC	0.478000																								0							SO:0001583	missense			ENST00000292928.2	1	1	hg19	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843785	0.71488	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000477	T	0.56108	0.1963	M	0.89534	3.04	0.39365	D	0.965996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.972	T	0.67169	-0.5738	10	0.87932	D	0	.	12.0011	0.53230	1.0:0.0:0.0:0.0	.	358;358;359	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	T	310;359;358;358	ENSP00000389722:K310T;ENSP00000292928:K359T;ENSP00000407593:K358T;ENSP00000410113:K358T	ENSP00000292928:K359T	K	+	2	0	ZNF382	41809715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.683000	0.61679	2.007000	0.58848	0.482000	0.46254	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	1	0	0	25	382	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	9.999998e-01	24	375	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.740000	0.490000	1.000000	1.000000	0.763253	0.740000	0	6.000000e-01	9.500000e-01
THEG	51298	broad.mit.edu	37	19	371285	371285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:371285C>T	ENST00000342640.4	-	6	715	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	THEG_ENST00000346878.2_Missense_Mutation_p.E201K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein			29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			GCTCTGTATTCCAGGGAGGAC	0.632000																								0							SO:0001583	missense			ENST00000342640.4	1	1	hg19	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546472	0.45383	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.24538	1.85;1.85	4.11	3.01	0.34805	.	10.291900	0.00166	N	0.000000	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	P;P	0.49559	0.827;0.925	P;P	0.49597	0.52;0.616	T	0.27806	-1.0063	10	0.23891	T	0.37	-21.2135	9.5418	0.39257	0.0:0.7843:0.2157:0.0	.	201;225	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	K	225;201	ENSP00000340088:E225K;ENSP00000264820:E201K	ENSP00000340088:E225K	E	-	1	0	THEG	322285	0.167000	0.22975	0.013000	0.15412	0.044000	0.14063	1.548000	0.36201	1.002000	0.39104	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2	0	0	1	231	888	1	227		0	0	0	1	227	2		0	0	0	0	0	2	1	1	226	863	0	227	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF567	163081	broad.mit.edu	37	19	37211001	37211001	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211001C>T	ENST00000536254.2	+	6	1597	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000585696.1_Missense_Mutation_p.R428C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C			Q8N184	ZN567_HUMAN	zinc finger protein 567			24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		AAAGTCCTTCCGCCAGAAGAC	0.433000																								0							SO:0001583	missense			ENST00000536254.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.59	1.685383	0.29872	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.88	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152893	0.31177	N	0.008105	T	0.43634	0.1256	M	0.63169	1.94	0.39029	D	0.959897	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.35674	-0.9779	10	0.28530	T	0.3	.	7.109	0.25380	0.0:0.5528:0.3555:0.0917	.	459;428	Q8N184;F8WEL6	ZN567_HUMAN;.	C	459;403;428;458;428	ENSP00000441838:R459C;ENSP00000353957:R428C;ENSP00000376003:R428C	ENSP00000353957:R428C	R	+	1	0	ZNF567	41902841	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	-0.376000	0.07465	0.725000	0.32318	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	1	0	1	72	310	0	93	1	8.768277e-01	3	15	0	93	2		0	0	0	0	0	2	1	1	72	302	0	94	2								-2.559422	1	1	121412	5	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF567	163081	broad.mit.edu	37	19	37211114	37211114	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211114C>T	ENST00000536254.2	+	6	1710	c.1488C>T	c.(1486-1488)caC>caT	p.H496H	ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF567_ENST00000585696.1_Silent_p.H465H|ZNF567_ENST00000360729.4_Silent_p.H465H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.H465H			Q8N184	ZN567_HUMAN	zinc finger protein 567			24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		TTGATCATCACCGAACTCACA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000536254.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	1	0	1	49	262	0	86	0	7.084760e-01	1	14	0	86	2		0	0	0	0	0	2	1	1	48	255	0	86	2								-19.999980	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
THEG	51298	broad.mit.edu	37	19	372691	372691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:372691C>T	ENST00000342640.4	-	5	617	c.575G>A	c.(574-576)cGc>cAc	p.R192H	THEG_ENST00000346878.2_Missense_Mutation_p.R168H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein			29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CTCCACGCGGCGGGACACCGC	0.552000																								0							SO:0001583	missense			ENST00000342640.4	1	1	hg19	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076990	0.20227	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.19105	2.17;2.23	3.31	-3.36	0.04913	.	2.622300	0.01419	N	0.014297	T	0.32585	0.0834	M	0.65498	2.005	0.09310	N	1	D;D	0.64830	0.986;0.994	P;P	0.54499	0.674;0.754	T	0.40961	-0.9535	10	0.56958	D	0.05	-11.6402	4.0262	0.09688	0.0:0.3076:0.3472:0.3452	.	168;192	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	H	192;168	ENSP00000340088:R192H;ENSP00000264820:R168H	ENSP00000340088:R192H	R	-	2	0	THEG	323691	0.001000	0.12720	0.005000	0.12908	0.092000	0.18411	-1.869000	0.01643	-0.528000	0.06366	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2	1	0	1	36	233	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	36	227	0	68	2								-3.319998	1	1	121412	1	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999840	0.990000	1	9.900000e-01	1
TJP3	27134	broad.mit.edu	37	19	3730576	3730576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3730576G>A	ENST00000541714.2	+	5	947	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TJP3_ENST00000587686.1_Missense_Mutation_p.R181H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000589378.1_Missense_Mutation_p.R171H|TJP3_ENST00000382008.3_Missense_Mutation_p.R162H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3			26					AGCCATGGGCGTAGGAGCCCA	0.711000																								0							SO:0001583	missense			ENST00000541714.2	1	1	hg19	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422210	0.25639	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10005	2.94;3.09;2.92;3.02	3.75	2.68	0.31781	.	0.912560	0.09230	N	0.830629	T	0.11750	0.0286	L	0.27053	0.805	0.09310	N	1	D;P;D;D	0.63046	0.989;0.923;0.992;0.98	P;P;B;P	0.51170	0.661;0.487;0.379;0.661	T	0.29882	-0.9997	10	0.27082	T	0.32	.	7.5557	0.27822	0.0:0.1813:0.6317:0.187	.	181;181;162;162	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	162;126;162;181	ENSP00000439278:R162H;ENSP00000439991:R126H;ENSP00000371438:R162H;ENSP00000262968:R181H	ENSP00000262968:R181H	R	+	2	0	TJP3	3681576	0.998000	0.40836	0.370000	0.25965	0.078000	0.17371	4.502000	0.60400	0.752000	0.32923	0.491000	0.48974	CGT		TCGA-IB-7651-01A-11D-2154-08	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	1	0	0	54	213	0	52	1	9.988141e-01	20	23	0	52	2		0	0	0	0	0	2	1	1	52	211	0	50	2								-3.277955	1	1	120920	5	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF790	388536	broad.mit.edu	37	19	37309616	37309616	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309616T>A	ENST00000356725.4	-	5	1750	c.1630A>T	c.(1630-1632)Atc>Ttc	p.I544F	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790			32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		GAACCCCAGATAAAAGATTTC	0.393000																								0							SO:0001583	missense			ENST00000356725.4	1	1	hg19	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	T	3.310	-0.140997	0.06669	.	.	ENSG00000197863	ENST00000356725	T	0.60672	0.17	3.2	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44767	0.1309	N	0.19112	0.55	0.20926	N	0.999826	P	0.50369	0.934	P	0.50314	0.637	T	0.21655	-1.0239	9	0.18276	T	0.48	.	5.7212	0.17988	0.0:0.2363:0.0:0.7637	.	544	Q6PG37	ZN790_HUMAN	F	544	ENSP00000349161:I544F	ENSP00000349161:I544F	I	-	1	0	ZNF790	42001456	0.000000	0.05858	0.270000	0.24601	0.898000	0.52572	-2.284000	0.01154	0.437000	0.26423	0.402000	0.26972	ATC		TCGA-IB-7651-01A-11D-2154-08	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	1	0	1	142	497	0	137	0	3.100221e-01	1	4	0	137	2		0	0	0	0	0	2	1	1	141	484	0	135	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF790	388536	broad.mit.edu	37	19	37309951	37309951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309951G>A	ENST00000356725.4	-	5	1415	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790			32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		CGAAGCCCAAGTAAAAGTCTT	0.418000																								0							SO:0001583	missense			ENST00000356725.4	1	1	hg19	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232322	0.05983	.	.	ENSG00000197863	ENST00000356725	T	0.07688	3.17	3.14	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.21142	0.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46345	-0.9198	9	0.16896	T	0.51	.	0.6109	0.00761	0.4251:0.1728:0.2325:0.1696	.	432	Q6PG37	ZN790_HUMAN	I	432	ENSP00000349161:T432I	ENSP00000349161:T432I	T	-	2	0	ZNF790	42001791	0.000000	0.05858	0.009000	0.14445	0.488000	0.33401	-3.108000	0.00601	0.004000	0.14682	-0.339000	0.08088	ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	0	0	0	16	663	0	147	0	2.083414e-02	0	9	0	147	2		0	0	0	0	0	2	1	9.999207e-01	16	649	0	147	2								-12.591710	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.290000	0.160000	1.000000	0.280000	0.351259	0.290000	0	2.200000e-01	3.900000e-01
ZNF790	388536	broad.mit.edu	37	19	37310733	37310733	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37310733T>C	ENST00000356725.4	-	5	633	c.513A>G	c.(511-513)gaA>gaG	p.E171E	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790			32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		GTTCTTTAAATTCATTCAGTT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000356725.4	1	1	hg19	CCDS12496.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	1	0	1	104	413	0	86	0	6.276429e-01	0	10	0	86	2		0	0	0	0	0	2	1	1	103	407	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP3	27134	broad.mit.edu	37	19	3735569	3735569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3735569G>A	ENST00000541714.2	+	9	1454	c.992G>A	c.(991-993)aGt>aAt	p.S331N	TJP3_ENST00000587686.1_Missense_Mutation_p.S350N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N|TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000589378.1_Missense_Mutation_p.S340N|TJP3_ENST00000382008.3_Missense_Mutation_p.S345N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3			26					ACCAGGGAGAGTCCCCGGCTT	0.552000																								0							SO:0001583	missense			ENST00000541714.2	1	1	hg19	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794754	0.02862	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09255	3.0;3.15;3.04;3.13	3.35	1.06	0.20224	.	1.018930	0.07818	N	0.959273	T	0.08891	0.0220	L	0.29908	0.895	0.24971	N	0.991662	B;B;B;B	0.12630	0.003;0.006;0.003;0.003	B;B;B;B	0.16289	0.005;0.015;0.004;0.005	T	0.39482	-0.9612	10	0.30854	T	0.27	.	9.3428	0.38089	0.0:0.4549:0.5451:0.0	.	350;364;345;331	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	N	331;295;345;364	ENSP00000439278:S331N;ENSP00000439991:S295N;ENSP00000371438:S345N;ENSP00000262968:S364N	ENSP00000262968:S364N	S	+	2	0	TJP3	3686569	0.854000	0.29725	0.539000	0.28077	0.153000	0.21895	1.145000	0.31577	0.377000	0.24735	0.511000	0.50034	AGT		TCGA-IB-7651-01A-11D-2154-08	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	0	0	0	23	792	0	173	1	9.846821e-01	18	212	0	173	2		0	0	0	0	0	2	1	8.793835e-01	22	762	1	172	16								-3.564867	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.340000	0.210000	1.000000	0.330000	0.399413	0.340000	0	2.700000e-01	4.500000e-01
ZNF345	25850	broad.mit.edu	37	19	37368427	37368427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368427G>A	ENST00000529555.1	+	2	1483	c.695G>A	c.(694-696)tGc>tAc	p.C232Y	ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345			24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CCTTATGAATGCAAAGCATGT	0.418000																								0							SO:0001583	missense			ENST00000529555.1	1	1	hg19	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599527	0.66332	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	D;D	0.85088	-1.94;-1.94	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93167	0.7824	M	0.89601	3.045	0.39967	D	0.974745	D	0.89917	1.0	D	0.97110	1.0	D	0.94805	0.7974	9	0.72032	D	0.01	.	14.2701	0.66147	0.0:0.0:1.0:0.0	.	232	Q14585	ZN345_HUMAN	Y	232	ENSP00000431216:C232Y;ENSP00000431202:C232Y	ENSP00000431216:C232Y	C	+	2	0	ZNF345	42060267	1.000000	0.71417	0.769000	0.31535	0.925000	0.55904	6.633000	0.74286	2.280000	0.76307	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1	1	0	1	56	284	0	90	1	3.301962e-01	4	3	0	90	2		0	0	0	0	0	2	1	1	55	278	0	90	2								-20.000000	1	0	121412	1	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF345	25850	broad.mit.edu	37	19	37368905	37368905	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368905C>T	ENST00000529555.1	+	2	1961	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF345_ENST00000589046.1_Silent_p.I391I|ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345			24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		ACCAGCTAATCCATACTGGTG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000529555.1	1	1	hg19	CCDS12497.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1	1	0	0	16	318	0	76	1	7.450336e-02	2	7	0	76	2		0	0	0	0	0	2	1	9.999285e-01	15	313	0	75	2								-17.391810	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.590000	0.340000	1.000000	0.560000	0.624647	0.590000	0	4.500000e-01	7.900000e-01
ZNF345	25850	broad.mit.edu	37	19	37368910	37368910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368910C>A	ENST00000529555.1	+	2	1966	c.1178C>A	c.(1177-1179)aCt>aAt	p.T393N	ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N|ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345			24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CTAATCCATACTGGTGAAAGA	0.423000																								0							SO:0001583	missense			ENST00000529555.1	1	1	hg19	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714819	0.48622	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.26067	1.76;1.76	3.93	1.46	0.22682	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26484	0.0647	L	0.46670	1.46	0.24034	N	0.996108	P	0.34826	0.471	B	0.38683	0.279	T	0.26224	-1.0109	9	0.72032	D	0.01	.	11.4064	0.49900	0.0:0.6517:0.3483:0.0	.	393	Q14585	ZN345_HUMAN	N	393;393;157	ENSP00000431216:T393N;ENSP00000431202:T393N	ENSP00000442320:T157N	T	+	2	0	ZNF345	42060750	0.001000	0.12720	0.997000	0.53966	0.616000	0.37450	1.183000	0.32041	0.915000	0.36847	0.561000	0.74099	ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1	1	0	1	60	269	0	76	0	3.792276e-01	0	7	0	76	2		0	0	0	0	0	2	1	1	58	264	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF829	374899	broad.mit.edu	37	19	37382434	37382434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382434C>T	ENST00000391711.3	-	6	1623	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	ZNF829_ENST00000520965.1_Missense_Mutation_p.R501H|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829			29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		GAGGTCAGAGCGACTACCAAA	0.373000																								0							SO:0001583	missense			ENST00000391711.3	1	1	hg19	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112918	0.20795	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.36157	1.27	3.28	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	L	0.43646	1.37	0.24617	N	0.993694	B	0.15930	0.015	B	0.01281	0.0	T	0.19614	-1.0300	9	0.21014	T	0.42	.	9.3436	0.38096	0.0:0.8812:0.0:0.1188	.	420	Q3KNS6	ZN829_HUMAN	H	420	ENSP00000429266:R420H	ENSP00000429266:R420H	R	-	2	0	ZNF829	42074274	0.000000	0.05858	0.991000	0.47740	0.993000	0.82548	-1.426000	0.02443	0.912000	0.36772	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	1	0	1	65	306	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	1	65	301	0	71	2								-20.000000	1	1	121364	1	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF829	374899	broad.mit.edu	37	19	37382697	37382697	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382697G>T	ENST00000391711.3	-	6	1360	c.996C>A	c.(994-996)gcC>gcA	p.A332A	ZNF829_ENST00000520965.1_Silent_p.A413A|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829			29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CACTATTAAAGGCCTTCCCAC	0.413000																								0							SO:0001819	synonymous_variant			ENST00000391711.3	1	1	hg19	CCDS42557.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	1	0	1	43	208	0	44	0	1.434645e-01	0	4	0	44	2		0	0	0	0	0	2	1	1	43	203	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF568	374900	broad.mit.edu	37	19	37413686	37413686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37413686C>A	ENST00000333987.7	+	3	520	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568			29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		ACATCTCAATCTTCAGTGATC	0.512000																								0							SO:0001583	missense			ENST00000333987.7	1	1	hg19	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201655	0.22121	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.07327	5.72;3.46;3.2	2.92	1.88	0.25563	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	0.999999	B	0.22604	0.072	B	0.21708	0.036	T	0.47315	-0.9127	9	0.13108	T	0.6	.	5.9183	0.19067	0.0:0.8516:0.0:0.1484	.	5	Q3ZCX4	ZN568_HUMAN	Y	5	ENSP00000407012:S5Y;ENSP00000334685:S5Y;ENSP00000389794:S5Y	ENSP00000334685:S5Y	S	+	2	0	ZNF568	42105526	0.086000	0.21541	0.034000	0.17996	0.270000	0.26580	1.137000	0.31479	0.798000	0.33994	-0.391000	0.06502	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1	42	198	0	45	0	5.466854e-01	0	10	0	45	2		0	0	0	0	0	2	1	1	41	192	0	45	2								-19.999840	1	0	120912	13	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF568	374900	broad.mit.edu	37	19	37416155	37416155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37416155C>T	ENST00000333987.7	+	4	636	c.130C>T	c.(130-132)Cct>Tct	p.P44S	ZNF568_ENST00000455427.2_5'UTR|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568			29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TACAACCAGGCCTCTTGTACG	0.403000																								0							SO:0001583	missense			ENST00000333987.7	1	1	hg19	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.131312	0.01756	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.00768	5.72;5.72;5.72	3.89	0.386	0.16254	Krueppel-associated box (1);	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56086	-0.8037	9	0.17369	T	0.5	.	5.9284	0.19124	0.0:0.3722:0.0:0.6278	.	44;44	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	S	44	ENSP00000407012:P44S;ENSP00000334685:P44S;ENSP00000389794:P44S	ENSP00000334685:P44S	P	+	1	0	ZNF568	42107995	0.704000	0.27836	0.699000	0.30290	0.796000	0.44982	0.298000	0.19120	0.022000	0.15160	-0.311000	0.09066	CCT		TCGA-IB-7651-01A-11D-2154-08	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1	35	162	0	36	0	4.373690e-01	0	8	0	36	2		0	0	0	0	0	2	1	1	35	160	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF568	374900	broad.mit.edu	37	19	37427667	37427667	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37427667A>T	ENST00000333987.7	+	5	661	c.155A>T	c.(154-156)gAt>gTt	p.D52V	ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame|ZNF568_ENST00000415168.1_De_novo_Start_OutOfFrame|ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568			29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		ACATTTAAGGATGTGGCTGTT	0.393000																								0							SO:0001583	missense			ENST00000333987.7	1	0	hg19	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554855	0.65425	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.12039	2.72;2.72;2.72	4.69	4.69	0.59074	Krueppel-associated box (4);	.	.	.	.	T	0.50205	0.1602	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64909	-0.6296	9	0.87932	D	0	.	10.4605	0.44577	1.0:0.0:0.0:0.0	.	52;52	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	V	52	ENSP00000407012:D52V;ENSP00000334685:D52V;ENSP00000389794:D52V	ENSP00000334685:D52V	D	+	2	0	ZNF568	42119507	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.384000	0.52478	1.959000	0.56917	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1	50	259	0	72	0	5.561022e-01	1	10	0	72	2		0	0	0	0	0	2	1	1	49	256	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP3	27134	broad.mit.edu	37	19	3744015	3744015	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3744015A>G	ENST00000541714.2	+	15	2384	c.1922A>G	c.(1921-1923)gAc>gGc	p.D641G	TJP3_ENST00000587686.1_Missense_Mutation_p.D660G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G|TJP3_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000589378.1_Missense_Mutation_p.D650G|TJP3_ENST00000382008.3_Missense_Mutation_p.D655G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3			26					GAGATGCCTGACCAGTTTGAA	0.522000																								0							SO:0001583	missense			ENST00000541714.2	0	1	hg19	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027520	0.75390	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10382	2.88;3.04;2.88;2.95	4.68	4.68	0.58851	Guanylate kinase/L-type calcium channel (1);	0.356896	0.31589	N	0.007385	T	0.17323	0.0416	L	0.59436	1.845	0.54753	D	0.999989	P;B;P;P	0.52061	0.95;0.032;0.9;0.735	P;B;P;P	0.47705	0.555;0.073;0.502;0.543	T	0.00878	-1.1530	10	0.87932	D	0	.	12.1035	0.53798	1.0:0.0:0.0:0.0	.	660;674;655;641	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	G	641;605;655;674	ENSP00000439278:D641G;ENSP00000439991:D605G;ENSP00000371438:D655G;ENSP00000262968:D674G	ENSP00000262968:D674G	D	+	2	0	TJP3	3695015	1.000000	0.71417	0.867000	0.34043	0.960000	0.62799	6.024000	0.70857	1.742000	0.51746	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	0	0	0	9	368	0	84	1	9.495669e-01	22	192	0	84	2		0	0	0	0	0	2	1	9.936926e-01	9	359	0	82	2								-3.298319	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.300000	0.140000	1.000000	0.280000	0.365087	0.300000	0	2.100000e-01	4.500000e-01
ZNF568	374900	broad.mit.edu	37	19	37440777	37440777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440777A>G	ENST00000333987.7	+	7	1228	c.722A>G	c.(721-723)gAg>gGg	p.E241G	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.E177G|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568			29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		ATTAGACATGAGCGAATTCAT	0.383000																								0							SO:0001583	missense			ENST00000333987.7	1	1	hg19	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345033	0.24426	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.07444	3.19;3.19	3.83	0.267	0.15622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.440276	0.16878	N	0.195807	T	0.07143	0.0181	L	0.46157	1.445	0.21627	N	0.999615	B	0.06786	0.001	B	0.15484	0.013	T	0.29731	-1.0002	10	0.62326	D	0.03	.	4.1248	0.10123	0.5954:0.0:0.0947:0.3099	.	241	Q3ZCX4	ZN568_HUMAN	G	241;177	ENSP00000334685:E241G;ENSP00000394514:E177G	ENSP00000334685:E241G	E	+	2	0	ZNF568	42132617	0.000000	0.05858	0.016000	0.15963	0.936000	0.57629	0.280000	0.18790	-0.157000	0.11059	0.528000	0.53228	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	0	0	1	74	285	0	83	0	5.842182e-01	0	9	0	83	2		0	0	0	0	0	2	1	1	73	276	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF568	374900	broad.mit.edu	37	19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440779C>T	ENST00000333987.7	+	7	1230	c.724C>T	c.(724-726)Cga>Tga	p.R242*	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Nonsense_Mutation_p.R178*|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568			29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TAGACATGAGCGAATTCATGC	0.378000																								0							SO:0001587	stop_gained			ENST00000333987.7	0	1	hg19	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664843	0.96745	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	3.83	1.7	0.24286	.	0.190064	0.26075	N	0.026483	.	.	.	.	.	.	0.26320	N	0.977697	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5379	0.07800	0.5614:0.2167:0.222:0.0	.	.	.	.	X	242;178	.	ENSP00000334685:R242X	R	+	1	2	ZNF568	42132619	0.000000	0.05858	0.028000	0.17463	0.950000	0.60333	-0.139000	0.10358	0.181000	0.19994	-0.271000	0.10264	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1	74	280	0	82	0	5.926192e-01	0	9	0	82	2		0	0	0	0	0	2	1	1	73	271	0	82	2								-3.640964	1	1	121134	3	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF568	374900	broad.mit.edu	37	19	37441974	37441974	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37441974G>T	ENST00000333987.7	+	7	2425	c.1919G>T	c.(1918-1920)aGa>aTa	p.R640I	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.R576I|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568			29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		ACAGGTGAGAGACACCAAGTA	0.363000																								0							SO:0001583	missense			ENST00000333987.7	1	1	hg19	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091834	0.36952	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.08720	3.06;3.06	4.24	0.513	0.17000	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.449576	0.16444	N	0.214196	T	0.08582	0.0213	M	0.63169	1.94	0.41248	D	0.986695	B	0.16166	0.016	B	0.17979	0.02	T	0.14200	-1.0481	10	0.87932	D	0	.	3.3648	0.07199	0.5667:0.206:0.2274:0.0	.	640	Q3ZCX4	ZN568_HUMAN	I	640;576	ENSP00000334685:R640I;ENSP00000394514:R576I	ENSP00000334685:R640I	R	+	2	0	ZNF568	42133814	0.565000	0.26610	0.082000	0.20525	0.234000	0.25298	0.960000	0.29253	0.274000	0.22072	-0.423000	0.05987	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	1	0	1	35	269	0	67	0	1.100005e-01	0	5	0	67	2		0	0	0	0	0	2	1	9.988341e-01	35	262	1	67	15								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.980000	1.000000	1.000000	0.998092	0.990000	1	9.900000e-01	1
TJP3	27134	broad.mit.edu	37	19	3747908	3747908	+	Silent	SNP	C	C	T	rs148869242		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3747908C>T	ENST00000541714.2	+	19	2901	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	TJP3_ENST00000587686.1_Silent_p.G832G|TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000589378.1_Silent_p.G822G|TJP3_ENST00000382008.3_Silent_p.G827G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3			26					ACGGCGAGGGCGGCGCGTACA	0.692000																								0							SO:0001819	synonymous_variant			ENST00000541714.2	1	1	hg19	CCDS32873.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	1	0	1	39	202	0	53	1	1	105	135	0	53	2		0	0	0	0	0	2	1	1	39	198	0	52	2								-20.000000	1	1	121284	34	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
APBA3	9546	broad.mit.edu	37	19	3753771	3753771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3753771C>T	ENST00000316757.3	-	6	1203	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	AC005954.3_ENST00000591962.1_RNA|AC005954.4_ENST00000586503.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3			3		Hepatocellular(1079;0.137)			ACGTCCTCCGCGTAGAATACG	0.697000																								0							SO:0001583	missense			ENST00000316757.3	0	1	hg19	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	9.751	1.167534	0.21621	0.0	1.17E-4	ENSG00000011132	ENST00000316757	T	0.21932	1.98	3.79	0.307	0.15811	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.376195	0.24806	N	0.035454	T	0.11879	0.0289	N	0.22421	0.69	0.34009	D	0.651232	B	0.02656	0.0	B	0.06405	0.002	T	0.07102	-1.0790	10	0.59425	D	0.04	.	6.2697	0.20947	0.5328:0.3195:0.0:0.1477	.	335	O96018	APBA3_HUMAN	T	335	ENSP00000315136:A335T	ENSP00000315136:A335T	A	-	1	0	APBA3	3704771	1.000000	0.71417	0.168000	0.22838	0.106000	0.19336	3.528000	0.53524	-0.388000	0.07797	-1.516000	0.00938	GCG		TCGA-IB-7651-01A-11D-2154-08	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2	1	0	0	11	36	0	9	1	9.494306e-01	3	17	0	9	2		0	0	0	0	0	2	1	9.990064e-01	11	36	0	9	2								-19.998780	1	1	118828	5	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999582	0.990000	1	9.900000e-01	1
ZNF420	147923	broad.mit.edu	37	19	37618211	37618211	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618211T>G	ENST00000337995.3	+	5	533	c.318T>G	c.(316-318)taT>taG	p.Y106*	ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420			27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		AGAAGGAATATTTCAGGCAAG	0.373000																								0							SO:0001587	stop_gained			ENST00000337995.3	0	1	hg19	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001244	0.54254	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0673	0.36471	0.0:0.0:0.0:1.0	.	.	.	.	X	106	.	ENSP00000306102:Y106X	Y	+	3	2	ZNF420	42310051	0.010000	0.17322	0.138000	0.22173	0.623000	0.37688	1.531000	0.36018	1.698000	0.51180	0.459000	0.35465	TAT		TCGA-IB-7651-01A-11D-2154-08	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	1	0	1	62	289	0	64	1	6.063876e-01	2	9	0	64	2		0	0	0	0	0	2	1	1	62	278	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF420	147923	broad.mit.edu	37	19	37618753	37618753	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618753T>C	ENST00000337995.3	+	5	1075	c.860T>C	c.(859-861)gTc>gCc	p.V287A	ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420			27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TGTAGGAAGGTCTTTACTCAG	0.383000																								0							SO:0001583	missense			ENST00000337995.3	1	1	hg19	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	2.275	-0.366154	0.05069	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.16324	2.35;2.35	3.97	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.04275	-0.24	0.58432	D	0.99999	B	0.17268	0.021	B	0.15870	0.014	T	0.35748	-0.9776	9	0.02654	T	1	.	0.1891	0.00132	0.2272:0.1711:0.2344:0.3673	.	287	Q8TAQ5	ZN420_HUMAN	A	287	ENSP00000306102:V287A;ENSP00000338770:V287A	ENSP00000306102:V287A	V	+	2	0	ZNF420	42310593	0.000000	0.05858	0.998000	0.56505	0.970000	0.65996	-1.307000	0.02733	0.537000	0.28751	0.528000	0.53228	GTC		TCGA-IB-7651-01A-11D-2154-08	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	1	0	0	29	473	0	121	0	9.759617e-02	0	9	0	121	2		0	0	0	0	0	2	1	1	29	464	0	120	2								-6.754570	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.700000	0.470000	1.000000	0.680000	0.723322	0.700000	0	5.700000e-01	8.700000e-01
MRPL54	116541	broad.mit.edu	37	19	3762792	3762792	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3762792G>A	ENST00000330133.4	+	1	131	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54			5		Hepatocellular(1079;0.137)			AAGACTCCTGGCCCGGGATTA	0.622000																								0							SO:0001583	missense			ENST00000330133.4	1	1	hg19	CCDS12111.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949224	0.34377	.	.	ENSG00000183617	ENST00000330133	.	.	.	5.57	0.971	0.19698	.	0.742997	0.12541	N	0.459920	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.25152	-1.0140	9	0.21014	T	0.42	-5.2624	4.7361	0.12988	0.2703:0.0:0.5624:0.1673	.	32	Q6P161	RM54_HUMAN	T	32	.	ENSP00000331849:A32T	A	+	1	0	MRPL54	3713792	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	0.741000	0.26202	0.393000	0.25203	-0.367000	0.07326	GCC		TCGA-IB-7651-01A-11D-2154-08	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	1	0	1	47	379	0	79	1	1	21	226	0	79	2		0	0	0	0	0	2	1	1	46	372	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.980000	1.000000	1.000000	0.998399	0.990000	1	9.900000e-01	1
ZNF585A	199704	broad.mit.edu	37	19	37644430	37644430	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37644430T>C	ENST00000356958.4	-	5	629	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A			42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CTCCCCAGGATACATTTTTTG	0.383000																								0							SO:0001583	missense			ENST00000356958.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.61	2.288427	0.40494	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.28255	3.29;3.29;3.29;1.62	3.53	3.53	0.40419	.	0.468661	0.15806	U	0.243722	T	0.21022	0.0506	N	0.19112	0.55	0.30995	N	0.721005	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.87932	D	0	.	11.444	0.50112	0.0:0.0:0.0:1.0	.	124	Q6P3V2	Z585A_HUMAN	C	124;69;69;69	ENSP00000349440:Y124C;ENSP00000292841:Y69C;ENSP00000375998:Y69C;ENSP00000347724:Y69C	ENSP00000292841:Y69C	Y	-	2	0	ZNF585A	42336270	0.070000	0.21116	0.014000	0.15608	0.001000	0.01503	2.843000	0.48238	1.578000	0.49821	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	1	0	1	203	819	0	195	0	2.613226e-01	0	5	0	195	2		0	0	0	0	0	2	1	1	200	799	0	190	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF585B	92285	broad.mit.edu	37	19	37677451	37677451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677451C>T	ENST00000532828.2	-	5	1239	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B			29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TTCCCATATTCGGTACATATA	0.398000													Melanoma(93;882 1454 18863 28917 48427)											0							SO:0001583	missense			ENST00000532828.2	1	1	hg19	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728860	0.15507	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.07327	3.2;3.2	2.93	1.87	0.25490	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.618927	0.13412	N	0.389765	T	0.05914	0.0154	N	0.20530	0.585	0.34244	D	0.677925	B;B	0.17667	0.023;0.014	B;B	0.14023	0.003;0.01	T	0.14035	-1.0487	10	0.56958	D	0.05	.	8.637	0.33955	0.0:0.8754:0.0:0.1246	.	275;330	E9PQH3;Q52M93	.;Z585B_HUMAN	K	275;330	ENSP00000436774:E275K;ENSP00000433773:E330K	ENSP00000436774:E275K	E	-	1	0	ZNF585B	42369291	0.000000	0.05858	0.006000	0.13384	0.279000	0.26890	-0.285000	0.08410	0.542000	0.28846	0.455000	0.32223	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	1	0	1	132	558	1	141	0	5.386891e-01	1	8	1	141	2		0	0	0	0	0	2	1	1	125	540	1	157	15								-20.000000	1	1	121412	2	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF585B	92285	broad.mit.edu	37	19	37677675	37677675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677675G>T	ENST00000532828.2	-	5	1015	c.764C>A	c.(763-765)tCc>tAc	p.S255Y	ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B			29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CTTGAGTGTGGACTTTTGTGT	0.428000													Melanoma(93;882 1454 18863 28917 48427)											0							SO:0001583	missense			ENST00000532828.2	1	1	hg19	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	4.716	0.133052	0.09032	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.18502	2.21;2.21	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37136	N	0.002237	T	0.26702	0.0653	L	0.58302	1.8	0.09310	N	0.999998	P;D	0.65815	0.936;0.995	B;P	0.57911	0.374;0.829	T	0.02307	-1.1179	10	0.62326	D	0.03	.	6.5405	0.22377	0.151:0.0:0.849:0.0	.	200;255	E9PQH3;Q52M93	.;Z585B_HUMAN	Y	200;255	ENSP00000436774:S200Y;ENSP00000433773:S255Y	ENSP00000436774:S200Y	S	-	2	0	ZNF585B	42369515	0.000000	0.05858	0.997000	0.53966	0.008000	0.06430	0.126000	0.15769	1.338000	0.45544	0.455000	0.32223	TCC		TCGA-IB-7651-01A-11D-2154-08	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	1	0	1	129	635	0	160	1	9.174300e-01	2	21	0	160	2		0	0	0	0	0	2	1	1	127	620	0	165	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF383	163087	broad.mit.edu	37	19	37734149	37734149	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734149C>T	ENST00000589413.1	+	8	1594	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ZNF383_ENST00000352998.3_Silent_p.P337P|ZNF383_ENST00000590503.1_Silent_p.P337P			Q8NA42	ZN383_HUMAN	zinc finger protein 383			15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		GTGAGAAACCCTATGAGTGCA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000589413.1	1	1	hg19	CCDS12501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	1	0	1	82	384	0	97	1	9.713048e-01	8	21	0	97	2		0	0	0	0	0	2	1	1	81	375	0	97	2								-2.399528	0	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF383	163087	broad.mit.edu	37	19	37734379	37734379	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734379G>T	ENST00000589413.1	+	8	1824	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I|ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I			Q8NA42	ZN383_HUMAN	zinc finger protein 383			15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CAGCATCAGAGAATTCATACA	0.393000																								0							SO:0001583	missense			ENST00000589413.1	1	1	hg19	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211440	0.58343	.	.	ENSG00000188283	ENST00000352998	T	0.24908	1.83	3.62	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003790	T	0.36608	0.0973	L	0.45137	1.4	0.40780	D	0.983167	D	0.67145	0.996	D	0.66497	0.944	T	0.21930	-1.0231	10	0.66056	D	0.02	.	10.0584	0.42259	0.0:0.0:0.7991:0.2009	.	414	Q8NA42	ZN383_HUMAN	I	414	ENSP00000340132:R414I	ENSP00000340132:R414I	R	+	2	0	ZNF383	42426219	0.008000	0.16893	1.000000	0.80357	0.902000	0.53008	1.458000	0.35223	2.017000	0.59298	0.563000	0.77884	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	1	0	1	53	220	0	52	1	8.669289e-01	3	14	0	52	2		0	0	0	0	0	2	1	1	53	218	0	51	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF383	163087	broad.mit.edu	37	19	37734418	37734418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734418G>A	ENST00000589413.1	+	8	1863	c.1280G>A	c.(1279-1281)tGt>tAt	p.C427Y	ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y|ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y			Q8NA42	ZN383_HUMAN	zinc finger protein 383			15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TGTAATGAATGTGGAAAGGCC	0.378000																								0							SO:0001583	missense			ENST00000589413.1	1	1	hg19	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308850	0.40895	.	.	ENSG00000188283	ENST00000352998	D	0.85861	-2.04	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003980	D	0.94371	0.8190	H	0.96518	3.835	0.31323	N	0.685758	D	0.89917	1.0	D	0.97110	1.0	D	0.93643	0.6966	10	0.87932	D	0	.	13.6497	0.62304	0.0:0.0:1.0:0.0	.	427	Q8NA42	ZN383_HUMAN	Y	427	ENSP00000340132:C427Y	ENSP00000340132:C427Y	C	+	2	0	ZNF383	42426258	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	6.899000	0.75682	2.134000	0.65973	0.563000	0.77884	TGT		TCGA-IB-7651-01A-11D-2154-08	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	1	0	1	73	297	0	74	0	8.934988e-01	1	17	0	74	2		0	0	0	0	0	2	1	1	73	292	0	73	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MATK	4145	broad.mit.edu	37	19	3783843	3783843	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3783843A>G	ENST00000310132.6	-	6	949	c.551T>C	c.(550-552)gTg>gCg	p.V184A	MATK_ENST00000395045.2_Missense_Mutation_p.V185A|MATK_ENST00000395040.2_Missense_Mutation_p.V143A|MATK_ENST00000585778.1_Missense_Mutation_p.V184A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase			26		Hepatocellular(1079;0.137)			GCAGAAGAACACGGCCTCATC	0.667000																								0							SO:0001583	missense			ENST00000310132.6	1	1	hg19	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324334	0.41197	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.87966	-2.32;-2.32;-2.32	4.81	3.8	0.43715	SH2 motif (4);	0.663300	0.14471	N	0.317543	T	0.78387	0.4275	L	0.28014	0.82	0.27380	N	0.955432	P;P;P	0.44521	0.695;0.837;0.695	B;P;B	0.47430	0.328;0.547;0.328	T	0.67337	-0.5696	10	0.06757	T	0.87	-34.2197	4.188	0.10407	0.6184:0.0:0.0937:0.2879	.	184;185;184	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	A	185;184;143	ENSP00000378485:V185A;ENSP00000308734:V184A;ENSP00000378481:V143A	ENSP00000308734:V184A	V	-	2	0	MATK	3734843	0.000000	0.05858	0.995000	0.50966	0.939000	0.58152	0.779000	0.26746	0.708000	0.31955	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	1	0	0	21	205	0	42	0	1.785207e-01	0	8	0	42	2		0	0	0	0	0	2	1	9.999980e-01	21	203	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.710000	1.000000	1.000000	0.963779	0.990000	1	9.000000e-01	1
MATK	4145	broad.mit.edu	37	19	3784220	3784220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3784220G>A	ENST00000310132.6	-	5	662	c.264C>T	c.(262-264)cgC>cgT	p.R88R	MATK_ENST00000395045.2_Silent_p.R89R|MATK_ENST00000395040.2_Silent_p.R47R|MATK_ENST00000585778.1_Silent_p.R88R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase			26		Hepatocellular(1079;0.137)			GGTGCTTGACGCGGTACCAGC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000310132.6	1	1	hg19	CCDS12114.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	1	0	1	83	347	0	62	0	7.468175e-01	0	13	0	62	2		0	0	0	0	0	2	1	1	83	339	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF527	84503	broad.mit.edu	37	19	37880058	37880058	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37880058T>G	ENST00000436120.2	+	5	1214	c.1107T>G	c.(1105-1107)cgT>cgG	p.R369R	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527			33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CCTTTAGCCGTTATGCCTTCC	0.438000																								0							SO:0001819	synonymous_variant			ENST00000436120.2	1	1	hg19	CCDS42559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	1	0	1	54	267	0	60	1	6.267520e-01	2	10	0	60	2		0	0	0	0	0	2	1	1	49	255	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF569	148266	broad.mit.edu	37	19	37916864	37916864	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37916864G>T	ENST00000316950.6	-	5	701	c.144C>A	c.(142-144)ggC>ggA	p.G48G	ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Splice_Site_p.G48G|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000589833.1_Splice_Site_p.G72G	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569			40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TGAACGGATAGCCTGTCAAAG	0.438000																								0							SO:0001630	splice_region_variant			ENST00000316950.6	1	0	hg19	CCDS12503.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	1	0	0	284	1103	0	304	0	8.133018e-01	0	14	0	304	2		0	0	0	0	0	2	1	1	279	1068	0	304	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF570	148268	broad.mit.edu	37	19	37966858	37966858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37966858C>T	ENST00000330173.1	+	3	638	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570			27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TTCTCAAAGACATCTGTACAG	0.428000																								0							SO:0001583	missense			ENST00000330173.1	1	1	hg19	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787338	0.31593	.	.	ENSG00000171827	ENST00000330173	T	0.01685	4.69	3.57	2.45	0.29901	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	N	0.25825	0.765	0.19775	N	0.999951	P	0.42078	0.77	B	0.41271	0.352	T	0.51301	-0.8723	9	0.72032	D	0.01	.	10.5408	0.45031	0.0:0.7828:0.2172:0.0	.	37	Q96NI8	ZN570_HUMAN	Y	37	ENSP00000331540:H37Y	ENSP00000331540:H37Y	H	+	1	0	ZNF570	42658698	0.000000	0.05858	0.973000	0.42090	0.756000	0.42949	-0.054000	0.11826	1.822000	0.53115	0.467000	0.42956	CAT		TCGA-IB-7651-01A-11D-2154-08	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	1	0	1	79	344	0	82	0	6.372299e-01	0	11	0	82	2		0	0	0	0	0	2	1	1	77	340	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF570	148268	broad.mit.edu	37	19	37974942	37974942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37974942G>T	ENST00000330173.1	+	5	947	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	ZNF570_ENST00000586475.1_Missense_Mutation_p.G196C|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570			27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		AAGGCAACCAGGTAATCAGAA	0.378000																								0							SO:0001583	missense			ENST00000330173.1	0	1	hg19	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661220	0.14645	.	.	ENSG00000171827	ENST00000330173	T	0.04706	3.57	4.85	-1.08	0.09936	.	3.239520	0.01906	N	0.039487	T	0.05593	0.0147	L	0.52573	1.65	0.09310	N	0.999999	P	0.38167	0.621	B	0.36186	0.219	T	0.38972	-0.9636	10	0.21014	T	0.42	.	4.8816	0.13683	0.3478:0.0:0.51:0.1421	.	140	Q96NI8	ZN570_HUMAN	C	140	ENSP00000331540:G140C	ENSP00000331540:G140C	G	+	1	0	ZNF570	42666782	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	0.422000	0.21296	0.039000	0.15632	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	0	0	0	15	762	0	137	0	1.781971e-02	0	10	0	137	2		0	0	0	0	0	2	1	9.998586e-01	15	753	0	136	2								-2.292946	0	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.230000	0.130000	1.000000	0.230000	0.303537	0.230000	0	1.800000e-01	3.300000e-01
ZNF793	390927	broad.mit.edu	37	19	38028164	38028164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028164G>T	ENST00000587143.1	+	6	839	c.604G>T	c.(604-606)Gca>Tca	p.A202S	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S|ZNF793_ENST00000445217.1_Missense_Mutation_p.A202S|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793			3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		CCAGAACCCGGCACTTATGTA	0.468000													Melanoma(44;400 1431 1499 19093)											0							SO:0001583	missense			ENST00000587143.1	1	1	hg19	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785053	0.00628	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.14266	2.52;2.52	4.02	1.7	0.24286	.	0.400235	0.18388	N	0.142751	T	0.04318	0.0119	N	0.04768	-0.165	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.42515	-0.9447	10	0.02654	T	1	.	4.9178	0.13854	0.1195:0.2196:0.6609:0.0	.	202	E9PGN4	.	S	202;202;202;201	ENSP00000444355:A202S;ENSP00000396402:A202S	ENSP00000318811:A201S	A	+	1	0	ZNF793	42720004	0.000000	0.05858	0.078000	0.20375	0.254000	0.26022	-1.219000	0.02973	1.028000	0.39785	0.643000	0.83706	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	1	0	1	30	105	0	34	0	5.171515e-02	0	2	0	34	2		0	0	0	0	0	2	1	1	29	103	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF793	390927	broad.mit.edu	37	19	38028553	38028553	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028553A>C	ENST00000587143.1	+	6	1228	c.993A>C	c.(991-993)aaA>aaC	p.K331N	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N|ZNF793_ENST00000445217.1_Missense_Mutation_p.K331N|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793			3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TACATCGAAAAATGCACACAG	0.453000													Melanoma(44;400 1431 1499 19093)											0							SO:0001583	missense			ENST00000587143.1	1	1	hg19	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523175	0.64747	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.01084	5.36;5.36	4.13	3.11	0.35812	.	0.000000	0.39985	N	0.001207	T	0.02848	0.0085	L	0.48174	1.505	0.19945	N	0.999944	P	0.51791	0.948	P	0.57425	0.82	T	0.31806	-0.9930	10	0.87932	D	0	.	8.5071	0.33195	0.9037:0.0:0.0963:0.0	.	331	E9PGN4	.	N	331;331;331;330	ENSP00000444355:K331N;ENSP00000396402:K331N	ENSP00000318811:K330N	K	+	3	2	ZNF793	42720393	0.000000	0.05858	0.825000	0.32803	0.997000	0.91878	-0.968000	0.03817	0.737000	0.32582	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	1	0	1	28	159	0	46	0	1.730112e-01	0	5	0	46	2		0	0	0	0	0	2	1	1	28	156	0	46	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999900	0.990000	1	9.900000e-01	1
ZNF540	163255	broad.mit.edu	37	19	38103199	38103199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38103199G>A	ENST00000592533.1	+	5	1350	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R|ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540			28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TAGTGTATGCGGACAACTTAC	0.353000																								0							SO:0001583	missense			ENST00000592533.1	1	1	hg19	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662799	0.29515	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.10288	2.89	2.16	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.11673	0.155	0.09310	N	1	P;P	0.42757	0.789;0.684	B;B	0.36567	0.228;0.114	T	0.36456	-0.9747	9	0.51188	T	0.08	.	5.4742	0.16686	0.0:0.1763:0.5265:0.2972	.	308;340	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	340;308	ENSP00000324598:G340R	ENSP00000324598:G340R	G	+	1	0	ZNF540	42795039	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-4.809000	0.00183	0.211000	0.20683	0.305000	0.20034	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	1	0	1	53	244	0	59	0	3.311037e-02	0	2	0	59	2		0	0	0	0	0	2	1	1	53	240	0	59	2								-2.807896	1	1	121412	20	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFR2	23217	broad.mit.edu	37	19	3813948	3813948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3813948G>A	ENST00000262961.4	-	14	2122	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	p.T704T(1)		16					ACTCATCCTCGGTCACCATCT	0.507000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000262961.4	1	1	hg19	CCDS45921.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	1	0	1	38	151	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	37	147	0	40	2								-3.659132	1	1	120992	8	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF607	84775	broad.mit.edu	37	19	38189413	38189413	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38189413T>G	ENST00000355202.4	-	5	2214	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607			27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		CCTAAAAGACTTCCCGCATTT	0.428000																								0							SO:0001583	missense			ENST00000355202.4	1	1	hg19	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225450	0.58668	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.07908	3.15;3.15	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	M	0.82923	2.615	0.32279	N	0.567864	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	T	0.32693	-0.9897	9	0.87932	D	0	.	9.1906	0.37197	0.0:0.0:0.0:1.0	.	540;539	Q96SK3;F5H141	ZN607_HUMAN;.	T	540;539	ENSP00000347338:K540T;ENSP00000438015:K539T	ENSP00000347338:K540T	K	-	2	0	ZNF607	42881253	0.958000	0.32768	0.213000	0.23690	0.027000	0.11550	3.507000	0.53371	1.028000	0.39785	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	1	0	1	60	304	0	59	0	1.953682e-01	0	5	0	59	2		0	0	0	0	0	2	1	1	57	299	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF607	84775	broad.mit.edu	37	19	38190380	38190380	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38190380A>G	ENST00000355202.4	-	5	1247	c.652T>C	c.(652-654)Ttt>Ctt	p.F218L	ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607			27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		CCATAATGAAATCTATGATGT	0.423000																								0							SO:0001583	missense			ENST00000355202.4	1	1	hg19	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355955	0.41700	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.17370	2.28;2.28	1.91	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.04355	-0.22	0.09310	N	0.999999	B;B	0.16603	0.002;0.018	B;B	0.10450	0.005;0.002	T	0.33240	-0.9876	9	0.54805	T	0.06	.	3.1323	0.06428	0.2608:0.0:0.1952:0.544	.	218;217	Q96SK3;F5H141	ZN607_HUMAN;.	L	218;217	ENSP00000347338:F218L;ENSP00000438015:F217L	ENSP00000347338:F218L	F	-	1	0	ZNF607	42882220	0.000000	0.05858	0.244000	0.24202	0.343000	0.28985	0.283000	0.18846	-0.034000	0.13713	0.459000	0.35465	TTT		TCGA-IB-7651-01A-11D-2154-08	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	1	0	1	102	414	0	124	0	0	0	1	0	124	2		0	0	0	0	0	2	1	1	99	411	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFR2	23217	broad.mit.edu	37	19	3821408	3821408	+	Missense_Mutation	SNP	G	G	A	rs61742027	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3821408G>A	ENST00000262961.4	-	10	1571	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2			16					TTCCTCATGCGCTCCTCCAGG	0.677000																								0							SO:0001583	missense			ENST00000262961.4	1	0	hg19	CCDS45921.1	26	0.011904761904761904	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	19	0.025065963060686015	G	15.56	2.870575	0.51588	0.007493	0.031213	ENSG00000105278	ENST00000262961	T	0.09163	3.01	3.03	-6.07	0.02158	.	0.169528	0.37437	U	0.002092	T	0.05640	0.0148	M	0.72894	2.215	0.09310	N	0.999996	D	0.76494	0.999	P	0.55871	0.786	T	0.00867	-1.1534	10	0.87932	D	0	-10.0168	7.4072	0.26998	0.1156:0.0:0.476:0.4085	rs61742027	521	Q9UPR6	ZFR2_HUMAN	C	521	ENSP00000262961:R521C	ENSP00000262961:R521C	R	-	1	0	ZFR2	3772408	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.022000	0.13511	-1.536000	0.01738	-1.478000	0.00992	CGC		TCGA-IB-7651-01A-11D-2154-08	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	0	0	1	38	119	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	38	115	0	23	2								-1.318091	0	1	120694	2711	62	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF573	126231	broad.mit.edu	37	19	38229915	38229915	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229915A>G	ENST00000590414.2	-	4	1497	c.1476T>C	c.(1474-1476)caT>caC	p.H492H	ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000339503.4_Silent_p.H434H|ZNF573_ENST00000536220.1_Silent_p.H404H			Q86YE8	ZN573_HUMAN	zinc finger protein 573			25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		TCTCACCAGTATGAGTTTTCC	0.378000																								0							SO:0001819	synonymous_variant			ENST00000590414.2	1	1	hg19	CCDS59381.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	1	0	1	85	374	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	83	371	0	97	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L3	23094	broad.mit.edu	37	19	38572967	38572967	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38572967C>T	ENST00000222345.6	+	3	1271	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3			59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		TGGGGGGCGGCGGCGGAGCCA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000222345.6	1	1	hg19	CCDS33007.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	0	48	134	0	26	1	5.909813e-01	2	5	0	26	2		0	0	0	0	0	2	1	1	47	133	0	26	2								-20.000000	1	1	116556	2	25	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L3	23094	broad.mit.edu	37	19	38600883	38600883	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38600883A>G	ENST00000222345.6	+	8	2659	c.2150A>G	c.(2149-2151)cAc>cGc	p.H717R	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3			59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		CGGAAGAGGCACATAGGAAAT	0.597000																								0							SO:0001583	missense			ENST00000222345.6	1	1	hg19	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329061	0.81690	.	.	ENSG00000105738	ENST00000222345	D	0.97138	-4.26	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.98542	4.26	0.58432	D	0.999996	P	0.52061	0.95	D	0.71870	0.975	D	0.98988	1.0807	10	0.87932	D	0	-37.7634	14.0811	0.64922	1.0:0.0:0.0:0.0	.	717	O60292	SI1L3_HUMAN	R	717	ENSP00000222345:H717R	ENSP00000222345:H717R	H	+	2	0	SIPA1L3	43292723	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.339000	0.96797	1.991000	0.58162	0.454000	0.30748	CAC		TCGA-IB-7651-01A-11D-2154-08	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	0	0	0	26	626	0	126	1	3.065938e-01	2	25	0	126	2		0	0	0	0	0	2	1	9.999999e-01	26	607	0	125	2								-4.352039	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.480000	0.310000	1.000000	0.470000	0.527894	0.480000	0	3.900000e-01	6.200000e-01
SIPA1L3	23094	broad.mit.edu	37	19	38610136	38610136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610136C>A	ENST00000222345.6	+	9	2991	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3			59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		TCTCAAGGACCTGGCCGAAAA	0.557000																								0							SO:0001583	missense			ENST00000222345.6	1	1	hg19	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951204	0.73787	.	.	ENSG00000105738	ENST00000222345	D	0.95949	-3.86	5.75	4.72	0.59763	Rap/ran-GAP (2);	0.000000	0.64402	D	0.000001	D	0.96861	0.8975	M	0.72353	2.195	0.47341	D	0.999397	D	0.56746	0.977	D	0.70935	0.971	D	0.96927	0.9678	10	0.87932	D	0	-22.4447	10.6047	0.45388	0.0:0.8459:0.0:0.1541	.	828	O60292	SI1L3_HUMAN	M	828	ENSP00000222345:L828M	ENSP00000222345:L828M	L	+	1	2	SIPA1L3	43301976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.356000	0.34079	1.451000	0.47736	-0.136000	0.14681	CTG		TCGA-IB-7651-01A-11D-2154-08	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	1	81	249	0	62	1	9.999987e-01	22	42	0	62	2		0	0	0	0	0	2	1	1	80	242	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L3	23094	broad.mit.edu	37	19	38610224	38610224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610224C>T	ENST00000222345.6	+	9	3079	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3			59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		AAGGAAAAGACAAAAGCACGG	0.577000																								0							SO:0001583	missense			ENST00000222345.6	1	1	hg19	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898448	0.33535	.	.	ENSG00000105738	ENST00000222345	T	0.46819	0.86	5.75	5.75	0.90469	.	0.236566	0.43747	D	0.000533	T	0.36193	0.0958	N	0.24115	0.695	0.38592	D	0.950444	B	0.28998	0.23	B	0.24394	0.053	T	0.16988	-1.0384	10	0.27082	T	0.32	-19.2917	18.7237	0.91705	0.0:1.0:0.0:0.0	.	857	O60292	SI1L3_HUMAN	I	857	ENSP00000222345:T857I	ENSP00000222345:T857I	T	+	2	0	SIPA1L3	43302064	0.031000	0.19500	0.987000	0.45799	0.937000	0.57800	1.188000	0.32102	2.725000	0.93324	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	1	58	264	0	58	1	9.999744e-01	22	52	0	58	2		0	0	0	0	0	2	1	1	57	258	0	58	2								-20.000000	1	0	121412	1	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L3	23094	broad.mit.edu	37	19	38682946	38682946	+	Missense_Mutation	SNP	C	C	T	rs150063338	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38682946C>T	ENST00000222345.6	+	17	5101	c.4592C>T	c.(4591-4593)aCg>aTg	p.T1531M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3			59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		GAGAGAGACACGGGAGTACGT	0.612000																								0							SO:0001583	missense			ENST00000222345.6	1	0	hg19	CCDS33007.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	13.70	2.314557	0.40996	.	.	ENSG00000105738	ENST00000222345	T	0.31247	1.5	5.46	3.32	0.38043	.	1.492440	0.04489	N	0.379220	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	P	0.45672	0.864	B	0.41332	0.354	T	0.17653	-1.0362	10	0.45353	T	0.12	-0.2811	7.5496	0.27788	0.0:0.7354:0.0:0.2646	.	1531	O60292	SI1L3_HUMAN	M	1531	ENSP00000222345:T1531M	ENSP00000222345:T1531M	T	+	2	0	SIPA1L3	43374786	0.001000	0.12720	0.003000	0.11579	0.231000	0.25187	1.134000	0.31442	0.657000	0.30906	0.455000	0.32223	ACG		TCGA-IB-7651-01A-11D-2154-08	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	1	0	1	31	170	0	40	1	9.971687e-01	17	36	0	40	2		0	0	0	0	0	2	1	1	31	168	0	40	2								-20.000000	1	1	121406	27	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
DPF1	8193	broad.mit.edu	37	19	38706892	38706892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38706892C>A	ENST00000420980.2	-	8	761	c.735G>T	c.(733-735)aaG>aaT	p.K245N	DPF1_ENST00000414789.1_Missense_Mutation_p.K207N|DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000416611.1_Missense_Mutation_p.K263N	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1			7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		CGTCGGGCGCCTTCTTGGCTG	0.627000																								0							SO:0001583	missense			ENST00000420980.2	1	1	hg19	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.05|19.05	3.752436|3.752436	0.69533|0.69533	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060	.|D;D;D;D;D;T	.|0.91124	.|-2.24;-2.79;-2.29;-2.79;-2.76;2.25	4.39|4.39	3.35|3.35	0.38373|0.38373	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.93374|0.93374	0.7887|0.7887	M|M	0.74467|0.74467	2.265|2.265	0.47245|0.47245	D|D	0.999364|0.999364	.|D;D;D;D;D	.|0.89917	.|0.983;1.0;1.0;1.0;0.968	.|P;D;D;D;P	.|0.97110	.|0.725;0.999;0.996;1.0;0.694	D|D	0.92151|0.92151	0.5728|0.5728	5|10	.|0.66056	.|D	.|0.02	-17.6035|-17.6035	5.7908|5.7908	0.18359|0.18359	0.0:0.6829:0.0:0.3171|0.0:0.6829:0.0:0.3171	.|.	.|263;262;289;289;245	.|E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.|.;.;.;.;DPF1_HUMAN	C|N	282|245;289;207;263;207;263;207	.|ENSP00000397354:K245N;ENSP00000412098:K207N;ENSP00000390223:K263N;ENSP00000391884:K207N;ENSP00000411569:K263N;ENSP00000416347:K207N	.|ENSP00000412098:K207N	G|K	-|-	1|3	0|2	DPF1|DPF1	43398732|43398732	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.917000|0.917000	0.54804|0.54804	2.245000|2.245000	0.43133|0.43133	1.163000|1.163000	0.42636|0.42636	0.561000|0.561000	0.74099|0.74099	GGC|AAG		TCGA-IB-7651-01A-11D-2154-08	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1	1	0	1	64	206	0	33	1	8.757701e-01	9	5	0	33	2		0	0	0	0	0	2	1	1	64	202	0	31	2								-4.531843	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPF1	8193	broad.mit.edu	37	19	38709239	38709239	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38709239T>G	ENST00000420980.2	-	5	597	c.571A>C	c.(571-573)Agg>Cgg	p.R191R	DPF1_ENST00000414789.1_Silent_p.R109R|DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000416611.1_Silent_p.R165R	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1			7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		TTCTTCCTCCTGGGAATGTCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000420980.2	1	1	hg19	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266022	0.23136	.	.	ENSG00000011332	ENST00000355526	.	.	.	3.26	2.11	0.27256	.	.	.	.	.	T	0.56543	0.1992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	4	.	.	.	-5.6764	8.3732	0.32427	0.0:0.0:0.2754:0.7246	.	.	.	.	P	183	.	.	Q	-	2	0	DPF1	43401079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.946000	0.49050	1.478000	0.48253	0.383000	0.25322	CAG		TCGA-IB-7651-01A-11D-2154-08	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1	1	0	1	52	286	0	89	1	1.767475e-01	2	3	0	89	2		0	0	0	0	0	2	1	1	52	276	0	89	2								-19.999990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KCNK6	9424	broad.mit.edu	37	19	38817849	38817849	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817849G>T	ENST00000263372.3	+	3	855	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6			17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)	Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATGGTGCTGGTGCT	0.632000																								0							SO:0001583	missense			ENST00000263372.3	1	1	hg19	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	5.208	0.223951	0.09863	.	.	ENSG00000099337	ENST00000263372	T	0.27557	1.66	5.44	2.1	0.27182	Ion transport 2 (1);	0.377738	0.29868	N	0.010997	T	0.12646	0.0307	N	0.12961	0.28	0.31977	N	0.606432	B	0.12013	0.005	B	0.16289	0.015	T	0.28586	-1.0039	10	0.07644	T	0.81	.	4.5908	0.12306	0.2784:0.16:0.5616:0.0	.	250	Q9Y257	KCNK6_HUMAN	L	250	ENSP00000263372:V250L	ENSP00000263372:V250L	V	+	1	0	KCNK6	43509689	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.570000	0.23653	0.246000	0.21394	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	1	0	1	39	310	0	52	1	9.999173e-01	30	84	0	52	2		0	0	0	0	0	2	1	1	39	306	0	51	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.970000	1.000000	1.000000	0.997818	0.990000	1	9.900000e-01	1
KCNK6	9424	broad.mit.edu	37	19	38817902	38817902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817902G>A	ENST00000263372.3	+	3	908	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6			17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)	Ibutilide(DB00308)|Quinidine(DB00908)	GCCTCACGGAGCTCATCCTGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000263372.3	1	1	hg19	CCDS12513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	1	0	1	68	338	0	68	1	1	38	87	0	68	2		0	0	0	0	0	2	1	1	66	335	0	67	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK6	9424	broad.mit.edu	37	19	38817988	38817988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817988C>T	ENST00000263372.3	+	3	994	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6			17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)	Ibutilide(DB00308)|Quinidine(DB00908)	CAGCCGGAGTCGCACCAGCAA	0.667000																								0							SO:0001583	missense			ENST00000263372.3	0	1	hg19	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852002	0.32699	.	.	ENSG00000099337	ENST00000263372	T	0.22134	1.97	5.36	-0.937	0.10415	.	0.876074	0.10064	N	0.720521	T	0.07548	0.0190	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.36187	-0.9758	10	0.28530	T	0.3	.	4.6572	0.12624	0.1452:0.4607:0.0:0.3941	.	296	Q9Y257	KCNK6_HUMAN	L	296	ENSP00000263372:S296L	ENSP00000263372:S296L	S	+	2	0	KCNK6	43509828	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	0.128000	0.15810	0.139000	0.18822	-0.219000	0.12488	TCG		TCGA-IB-7651-01A-11D-2154-08	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	0	0	1	11	369	0	67	1	9.058937e-01	13	128	0	67	2		0	0	0	0	0	2	1	9.982401e-01	9	365	0	65	2								-3.217166	1	0	121374	15	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.360000	0.180000	1.000000	0.340000	0.419280	0.360000	0	2.600000e-01	5.200000e-01
CATSPERG	57828	broad.mit.edu	37	19	38852347	38852347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38852347G>A	ENST00000409235.3	+	17	2055	c.1940G>A	c.(1939-1941)aGc>aAc	p.S647N	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma			40					CGCCTGCGGAGCCTGCCCAGT	0.672000																								0							SO:0001583	missense			ENST00000409235.3	0	1	hg19	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726067	0.48833	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.31769	1.48;1.48;1.48	4.67	3.63	0.41609	.	1.045340	0.07568	N	0.918079	T	0.16685	0.0401	N	0.08118	0	0.31922	N	0.613368	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27773	-1.0064	10	0.30078	T	0.28	-8.334	6.9527	0.24554	0.8913:0.0:0.1087:0.0	.	647;607	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	N	607;647;647	ENSP00000387057:S607N;ENSP00000386962:S647N;ENSP00000386950:S647N	ENSP00000386962:S647N	S	+	2	0	CATSPERG	43544187	0.102000	0.21896	0.081000	0.20488	0.025000	0.11179	2.917000	0.48821	0.643000	0.30638	-0.628000	0.03992	AGC		TCGA-IB-7651-01A-11D-2154-08	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	0	0	0	5	159	0	30	0	1.515042e-03	0	2	0	30	2		0	0	0	0	0	2	1	9.364936e-01	5	157	0	29	2								-7.479151	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.400000	0.150000	1.000000	0.350000	0.463681	0.400000	0	2.500000e-01	6.600000e-01
CATSPERG	57828	broad.mit.edu	37	19	38855715	38855715	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38855715C>T	ENST00000409235.3	+	22	2686	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.S817S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma			40					TGGGTTCATCCGGGCTCTGCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000409235.3	1	1	hg19	CCDS12514.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	1	0	1	89	398	0	110	0	8.973263e-02	1	2	0	110	2		0	0	0	0	0	2	1	1	87	388	0	108	2								-2.776647	1	1	121412	264	55	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CATSPERG	57828	broad.mit.edu	37	19	38858390	38858390	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38858390C>A	ENST00000409235.3	+	25	3019	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.I928I	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma			40					AGGACGAAATCTACCGCTTCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000409235.3	1	1	hg19	CCDS12514.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	1	0	0	66	1435	0	286		0	0	0	0	286	2		0	0	0	0	0	2	1	1	66	1393	0	283	2								-5.756327	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.520000	0.400000	1.000000	0.520000	0.565506	0.520000	0	4.600000e-01	6.200000e-01
RYR1	6261	broad.mit.edu	37	19	38931486	38931486	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38931486G>T	ENST00000359596.3	+	2	147	c.147G>T	c.(145-147)gaG>gaT	p.E49D	RYR1_ENST00000360985.3_Missense_Mutation_p.E49D|RYR1_ENST00000355481.4_Missense_Mutation_p.E49D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTTCCTGGAGCCCACTAGCA	0.642000																								0							SO:0001583	missense			ENST00000359596.3	0	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.966575	0.34659	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98602	-5.02;-5.02;-5.02	4.81	3.77	0.43336	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000002	D	0.98541	0.9513	M	0.83953	2.67	0.34988	D	0.754759	D;D	0.76494	0.995;0.999	D;D	0.75020	0.975;0.985	D	0.99942	1.1427	10	0.87932	D	0	.	6.8359	0.23935	0.2168:0.0:0.7832:0.0	.	49;49	P21817-2;P21817	.;RYR1_HUMAN	D	49	ENSP00000352608:E49D;ENSP00000347667:E49D;ENSP00000354254:E49D	ENSP00000347667:E49D	E	+	3	2	RYR1	43623326	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.815000	0.27253	0.991000	0.38814	0.556000	0.70494	GAG		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	20	106	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999966e-01	20	103	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999709	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	38937111	38937111	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38937111G>T	ENST00000359596.3	+	8	631		c.e8-1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000355481.4_Splice_Site			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTCCTCTCCAGGCTTCGTGAC	0.602000																								0							SO:0001630	splice_region_variant			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041738	0.55003	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9087	0.79450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR1	43628951	1.000000	0.71417	0.995000	0.50966	0.417000	0.31264	7.361000	0.79497	2.627000	0.88993	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	47	178	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	46	171	0	38	2								-3.682994	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	38956988	38956988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38956988G>A	ENST00000359596.3	+	24	3128	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1043H|RYR1_ENST00000355481.4_Missense_Mutation_p.R1043H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAGGCCGTGCGCACCCTCCTG	0.672000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	17.85	3.491232	0.64074	0.0	3.5E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92595	-3.07;-3.07;-3.07	2.94	2.94	0.34122	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.96056	0.8715	M	0.86651	2.83	0.50813	D	0.999898	D;D	0.89917	1.0;1.0	D;D	0.79784	0.978;0.993	D	0.96693	0.9512	10	0.72032	D	0.01	.	14.7726	0.69691	0.0:0.0:1.0:0.0	.	1043;1043	P21817-2;P21817	.;RYR1_HUMAN	H	1043	ENSP00000352608:R1043H;ENSP00000347667:R1043H;ENSP00000354254:R1043H	ENSP00000347667:R1043H	R	+	2	0	RYR1	43648828	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.451000	0.97610	1.988000	0.58038	0.444000	0.29173	CGC		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	0	15	53	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.999354e-01	15	53	0	13	2								-20.000000	1	1	120470	5	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	38959659	38959659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38959659C>T	ENST00000359596.3	+	26	3435	c.3435C>T	c.(3433-3435)ggC>ggT	p.G1145G	RYR1_ENST00000360985.3_Silent_p.G1145G|RYR1_ENST00000355481.4_Silent_p.G1145G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCAGCCGGGCGATGTCGTTG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000359596.3	1	1	hg19	CCDS33011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	69	293	0	63	0	0	1	0	0	63	2		0	0	0	0	0	2	1	1	68	281	0	62	2								-3.503331	1	1	121412	2	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	38976414	38976414	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38976414C>T	ENST00000359596.3	+	34	5119	c.5119C>T	c.(5119-5121)Cgc>Tgc	p.R1707C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C|RYR1_ENST00000355481.4_Missense_Mutation_p.R1707C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGCCCACTGCGCGCAGGCTA	0.652000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987909	0.35036	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74842	-0.88;-0.88;-0.88	3.98	2.87	0.33458	.	0.000000	0.64402	U	0.000007	D	0.86590	0.5969	M	0.87180	2.865	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89280	0.3611	10	0.87932	D	0	.	13.7048	0.62631	0.165:0.835:0.0:0.0	.	1707;1707	P21817-2;P21817	.;RYR1_HUMAN	C	1707	ENSP00000352608:R1707C;ENSP00000347667:R1707C;ENSP00000354254:R1707C	ENSP00000347667:R1707C	R	+	1	0	RYR1	43668254	1.000000	0.71417	0.935000	0.37517	0.263000	0.26337	4.695000	0.61767	2.048000	0.60808	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	1	104	451	1	101		0	0	0	1	101	2		0	0	0	0	0	2	1	1	104	446	1	100	19								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	38993325	38993325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38993325C>T	ENST00000359596.3	+	48	7793	c.7793C>T	c.(7792-7794)gCg>gTg	p.A2598V	RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V|RYR1_ENST00000355481.4_Missense_Mutation_p.A2598V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTCACCAAGGCGCAGCGTGAC	0.672000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823087	0.50739	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93307	-3.2;-3.2;-3.2	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000003	D	0.96306	0.8795	M	0.79475	2.455	0.53688	D	0.999971	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	D	0.96802	0.9590	10	0.72032	D	0.01	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	2598;2598	P21817-2;P21817	.;RYR1_HUMAN	V	2598	ENSP00000352608:A2598V;ENSP00000347667:A2598V;ENSP00000354254:A2598V	ENSP00000347667:A2598V	A	+	2	0	RYR1	43685165	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.500000	0.81588	2.265000	0.75225	0.467000	0.42956	GCG		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	0	43	199	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	43	192	0	36	2								-20.000000	1	1	121404	1	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	rs138647599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38996982G>A	ENST00000359596.3	+	55	8581	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N|RYR1_ENST00000355481.4_Missense_Mutation_p.D2861N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCAGCCCCCCGACCTTAGTGC	0.607000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862678	0.51482	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94000	-3.33;-3.33;-3.33	3.47	3.47	0.39725	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000003	D	0.96059	0.8716	M	0.79475	2.455	0.49389	D	0.999782	D;B	0.67145	0.996;0.171	D;B	0.71870	0.975;0.009	D	0.96570	0.9422	10	0.87932	D	0	.	14.2529	0.66031	0.0:0.0:1.0:0.0	.	2861;2861	P21817-2;P21817	.;RYR1_HUMAN	N	2861	ENSP00000352608:D2861N;ENSP00000347667:D2861N;ENSP00000354254:D2861N	ENSP00000347667:D2861N	D	+	1	0	RYR1	43688822	1.000000	0.71417	0.985000	0.45067	0.455000	0.32408	7.250000	0.78287	1.952000	0.56665	0.305000	0.20034	GAC		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	62	325	0	82	0	0	1	0	0	82	2		0	0	0	0	0	2	1	1	62	317	0	81	2								-3.329933	1	1	121412	1	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	39013945	39013945	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39013945C>A	ENST00000359596.3	+	69	10436	c.10436C>A	c.(10435-10437)gCt>gAt	p.A3479D	RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D|RYR1_ENST00000355481.4_Missense_Mutation_p.A3479D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGCAAAATGGCTAAGGTCGGG	0.567000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301591	0.10678	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96885	-4.16;-4.14;-4.16	2.68	2.68	0.31781	.	0.330102	0.27147	U	0.020710	D	0.91327	0.7265	L	0.34521	1.04	0.37387	D	0.912296	P;P;B	0.36535	0.557;0.557;0.075	B;B;B	0.25140	0.058;0.058;0.023	D	0.92745	0.6211	10	0.62326	D	0.03	.	13.3384	0.60530	0.0:1.0:0.0:0.0	.	3479;3479;3479	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3479;3479;3479;399	ENSP00000352608:A3479D;ENSP00000347667:A3479D;ENSP00000354254:A3479D	ENSP00000347667:A3479D	A	+	2	0	RYR1	43705785	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	4.622000	0.61240	1.524000	0.49035	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	0	32	666	1	109		0	0	0	1	109	2		0	0	0	0	0	2	1	9.463245e-01	31	654	1	109	21								-4.833511	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.550000	0.380000	1.000000	0.540000	0.591565	0.550000	0	4.600000e-01	6.900000e-01
RYR1	6261	broad.mit.edu	37	19	39028579	39028579	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39028579C>A	ENST00000359596.3	+	84	11668	c.11668C>A	c.(11668-11670)Ctc>Atc	p.L3890I	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I|RYR1_ENST00000355481.4_Missense_Mutation_p.L3885I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTACAATTGCTCTGTGAGGG	0.562000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258412	0.39896	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70516	-0.49;-0.49;-0.49	4.85	3.8	0.43715	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000016	D	0.83004	0.5160	M	0.80616	2.505	0.46874	D	0.999236	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67103	0.915;0.915;0.949	D	0.85657	0.1286	10	0.62326	D	0.03	.	14.3277	0.66530	0.0:0.8499:0.1501:0.0	.	3885;3885;3890	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	I	3890;3885;3885	ENSP00000352608:L3890I;ENSP00000347667:L3885I;ENSP00000354254:L3885I	ENSP00000347667:L3885I	L	+	1	0	RYR1	43720419	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	5.564000	0.67359	1.386000	0.46466	0.546000	0.68486	CTC		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	79	452	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	78	444	0	111	2								-20.000000	1	1	121412	7	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	39038920	39038920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39038920G>A	ENST00000359596.3	+	89	12142	c.12142G>A	c.(12142-12144)Gtg>Atg	p.V4048M	RYR1_ENST00000360985.3_Missense_Mutation_p.V4043M|RYR1_ENST00000355481.4_Missense_Mutation_p.V4043M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGACATGCTCGTGGAATCCTC	0.567000																								0							SO:0001583	missense			ENST00000359596.3	0	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696920	0.48202	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97505	-4.41;-4.41;-4.38	4.51	4.51	0.55191	.	0.000000	0.64402	U	0.000014	D	0.98362	0.9456	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	D	0.99372	1.0920	10	0.87932	D	0	.	17.3882	0.87422	0.0:0.0:1.0:0.0	.	4043;4043;4048	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	M	4048;4043;4043	ENSP00000352608:V4048M;ENSP00000347667:V4043M;ENSP00000354254:V4043M	ENSP00000347667:V4043M	V	+	1	0	RYR1	43730760	1.000000	0.71417	0.969000	0.41365	0.903000	0.53119	9.520000	0.98027	2.518000	0.84900	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	0	10	347	0	75	0	1.021356e-03	0	2	0	75	2		0	0	0	0	0	2	1	9.968042e-01	10	343	0	74	2								-3.628693	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.350000	0.170000	1.000000	0.330000	0.410692	0.350000	0	2.500000e-01	5.100000e-01
RYR1	6261	broad.mit.edu	37	19	39058490	39058490	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39058490C>A	ENST00000359596.3	+	93	13592	c.13592C>A	c.(13591-13593)cCt>cAt	p.P4531H	RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H|RYR1_ENST00000355481.4_Missense_Mutation_p.P4526H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCACCCCCTCCAAAGAAG	0.587000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.190062	0.21954	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93076	-3.16;-3.16;-3.16	5.06	2.91	0.33838	Ryanodine Receptor TM 4-6 (1);	0.366933	0.23894	U	0.043517	D	0.89248	0.6661	L	0.60455	1.87	0.22412	N	0.999127	B;B	0.12630	0.004;0.006	B;B	0.09377	0.003;0.004	T	0.76446	-0.2956	10	0.23891	T	0.37	.	7.9499	0.30008	0.1595:0.7556:0.0:0.0849	.	4526;4531	P21817-2;P21817	.;RYR1_HUMAN	H	4531;4526;4526	ENSP00000352608:P4531H;ENSP00000347667:P4526H;ENSP00000354254:P4526H	ENSP00000347667:P4526H	P	+	2	0	RYR1	43750330	0.577000	0.26708	0.987000	0.45799	0.855000	0.48748	0.837000	0.27558	0.711000	0.32018	0.491000	0.48974	CCT		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	73	323	0	74	1	8.464548e-01	15	2	0	74	2		0	0	0	0	0	2	1	1	73	313	0	72	2								-3.035099	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	39062895	39062895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39062895C>T	ENST00000359596.3	+	95	13983	c.13983C>T	c.(13981-13983)ggC>ggT	p.G4661G	RYR1_ENST00000360985.3_Silent_p.G4656G|RYR1_ENST00000355481.4_Silent_p.G4656G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCATCATTGGCTATAATTGTC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000359596.3	1	1	hg19	CCDS33011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	50	434	0	82	1	5.728609e-01	11	7	0	82	2		0	0	0	0	0	2	1	1	49	419	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.930000	1.000000	1.000000	0.996060	0.990000	1	9.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	39063833	39063833	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39063833T>G	ENST00000359596.3	+	96	14015	c.14015T>G	c.(14014-14016)tTt>tGt	p.F4672C	RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C|RYR1_ENST00000355481.4_Missense_Mutation_p.F4667C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGGTAATCTTTAAGCGGGAG	0.592000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098369	0.37048	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99121	-5.45;-5.44;-5.44	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	D	0.99233	0.9733	M	0.84948	2.725	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	13.4287	0.61042	0.0:0.0:0.0:1.0	.	4667;4672	P21817-2;P21817	.;RYR1_HUMAN	C	4672;4667;4667	ENSP00000352608:F4672C;ENSP00000347667:F4667C;ENSP00000354254:F4667C	ENSP00000347667:F4667C	F	+	2	0	RYR1	43755673	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.711000	0.84669	1.858000	0.53909	0.260000	0.18958	TTT		TCGA-IB-7651-01A-11D-2154-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	78	294	0	76	0	9.654229e-01	0	23	0	76	2		0	0	0	0	0	2	1	1	77	287	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP4K1	11184	broad.mit.edu	37	19	39087084	39087084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087084G>A	ENST00000591517.1	-	26	2012	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	MAP4K1_ENST00000396857.2_Silent_p.L662L|MAP4K1_ENST00000589130.1_Silent_p.L658L|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1			44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		CCGGTCAGCAGCGCGAACACG	0.726000																								0							SO:0001819	synonymous_variant			ENST00000591517.1	0	1	hg19	CCDS59385.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	1	0	0	16	56	0	8	0	6.898387e-01	0	10	0	8	2		0	0	0	0	0	2	1	9.999596e-01	16	54	0	8	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999941	0.990000	1	9.900000e-01	1
MAP4K1	11184	broad.mit.edu	37	19	39087996	39087996	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087996C>T	ENST00000591517.1	-	24	1835	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_3'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1			44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		CCTTTGGTGTCCTGGATCTTG	0.592000																								0							SO:0001583	missense			ENST00000591517.1	1	1	hg19	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600510	0.96614	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.05447	3.44	5.25	4.21	0.49690	Citron-like (3);	0.235175	0.41097	D	0.000948	T	0.20455	0.0492	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.975;0.986	T	0.00420	-1.1750	10	0.54805	T	0.06	.	12.5387	0.56156	0.1672:0.8328:0.0:0.0	.	603;603	Q92918-2;Q92918	.;M4K1_HUMAN	N	603	ENSP00000380066:D603N	ENSP00000221409:D603N	D	-	1	0	MAP4K1	43779836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.358000	0.66064	1.439000	0.47511	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	1	0	1	258	1224	0	250	0	8.669246e-01	0	19	0	250	2		0	0	0	0	0	2	1	1	252	1202	0	249	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP4K1	11184	broad.mit.edu	37	19	39090764	39090764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39090764C>T	ENST00000591517.1	-	21	1589	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1			44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		ATGAAGATGCCTTCCTCTGCC	0.632000																								0							SO:0001583	missense			ENST00000591517.1	1	1	hg19	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	33	5.253734	0.95336	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.25085	1.82;1.82	4.93	4.93	0.64822	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.80183	2.485	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.58713	-0.7588	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	183;521;521	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	S	521;521;183	ENSP00000380066:G521S;ENSP00000396383:G183S	ENSP00000221409:G521S	G	-	1	0	MAP4K1	43782604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.603000	0.67619	2.578000	0.87016	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	1	0	1	53	221	0	50	0	9.497484e-01	1	22	0	50	2		0	0	0	0	0	2	1	1	51	216	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATCAY	85300	broad.mit.edu	37	19	3909544	3909544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3909544C>T	ENST00000450849.2	+	7	1175	c.708C>T	c.(706-708)aaC>aaT	p.N236N	ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000398448.3_Silent_p.N242N|ATCAY_ENST00000600960.1_Silent_p.N236N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type			7		Hepatocellular(1079;0.137)			TGTACCTGAACGGTGCCACGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000450849.2	1	1	hg19	CCDS45923.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2	1	0	1	34	138	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	33	137	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATCAY	85300	broad.mit.edu	37	19	3910849	3910849	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3910849C>T	ENST00000450849.2	+	8	1295	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000398448.3_Silent_p.F282F|ATCAY_ENST00000600960.1_Silent_p.F276F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type			7		Hepatocellular(1079;0.137)			CCTCGTGGTTCATTCGGACTG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000450849.2	1	1	hg19	CCDS45923.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2	1	0	0	78	330	0	57	0	3.732313e-02	0	2	0	57	2		0	0	0	0	0	2	1	1	77	318	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF3K	27335	broad.mit.edu	37	19	39116677	39116677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39116677C>T	ENST00000538434.1	+	3	263	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	EIF3K_ENST00000545173.2_Missense_Mutation_p.R97W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W					eukaryotic translation initiation factor 3, subunit K		EIF3K/CYP39A1(2)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		GCAAGAAGAACGGCCAATCCG	0.582000																								0							SO:0001583	missense			ENST00000538434.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.506	1.104402	0.20632	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	4.29	1.93	0.25924	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.43211	0.1237	N	0.22421	0.69	0.50467	D	0.999876	B;B;B	0.14805	0.011;0.003;0.006	B;B;B	0.13407	0.003;0.009;0.009	T	0.41124	-0.9526	9	0.87932	D	0	-25.1521	13.4671	0.61260	0.3402:0.6598:0.0:0.0	.	10;97;97	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	W	97;10;97	.	ENSP00000248342:R97W	R	+	1	2	EIF3K	43808517	1.000000	0.71417	0.996000	0.52242	0.461000	0.32589	1.898000	0.39809	0.521000	0.28445	-1.357000	0.01221	CGG		TCGA-IB-7651-01A-11D-2154-08	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	1	0	1	128	620	0	217	1	1	360	1040	0	217	2		0	0	0	0	0	2	1	1	127	605	0	216	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATCAY	85300	broad.mit.edu	37	19	3917763	3917763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3917763C>T	ENST00000450849.2	+	10	1456	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V|RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type			7		Hepatocellular(1079;0.137)			AGACTGAAGGCCAGGAGGGAG	0.522000																								0							SO:0001583	missense			ENST00000450849.2	1	1	hg19	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992709	0.54041	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.38560	1.16;1.16;1.13	4.75	4.75	0.60458	.	0.180274	0.48286	D	0.000190	T	0.35682	0.0940	L	0.29908	0.895	0.45822	D	0.998699	B;B;B	0.25351	0.124;0.095;0.058	B;B;B	0.27796	0.055;0.083;0.038	T	0.20874	-1.0262	10	0.51188	T	0.08	.	17.0755	0.86585	0.0:1.0:0.0:0.0	.	336;330;330	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	V	330;330;330;336;308	ENSP00000390941:A330V;ENSP00000301260:A330V;ENSP00000381466:A336V	ENSP00000301260:A330V	A	+	2	0	ATCAY	3868763	1.000000	0.71417	0.992000	0.48379	0.627000	0.37826	3.283000	0.51701	2.352000	0.79861	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2	1	0	1	51	298	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	50	286	0	60	2								-3.321130	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CAPN12	147968	broad.mit.edu	37	19	39228155	39228155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39228155C>A	ENST00000328867.4	-	9	1397	c.1089G>T	c.(1087-1089)tgG>tgT	p.W363C	CAPN12_ENST00000601953.1_Missense_Mutation_p.W214C|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12			20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		AGCCACGCACCCAGCGGCCTT	0.701000																								0							SO:0001583	missense			ENST00000328867.4	0	1	hg19	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333993	0.81801	.	.	ENSG00000182472	ENST00000328867	D	0.95853	-3.83	3.76	3.76	0.43208	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98858	1.0761	10	0.87932	D	0	.	13.4367	0.61088	0.0:1.0:0.0:0.0	.	363	Q6ZSI9	CAN12_HUMAN	C	363	ENSP00000331636:W363C	ENSP00000331636:W363C	W	-	3	0	CAPN12	43919995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.044000	0.64214	2.086000	0.62901	0.555000	0.69702	TGG		TCGA-IB-7651-01A-11D-2154-08	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1	0	0	0	8	371	0	47	0	6.348359e-02	1	16	0	47	2		0	0	0	0	0	2	1	9.885949e-01	8	363	0	45	2								-7.965825	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.270000	0.120000	1.000000	0.250000	0.335343	0.270000	0	1.800000e-01	4.100000e-01
CAPN12	147968	broad.mit.edu	37	19	39233119	39233119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39233119C>T	ENST00000328867.4	-	3	665	c.357G>A	c.(355-357)cgG>cgA	p.R119R	CAPN12_ENST00000601953.1_5'UTR|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12			20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		GGCGCAGGAGCCGGGGATACA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000328867.4	1	1	hg19	CCDS12519.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1	1	0	1	25	165	0	30	1	7.826884e-01	20	1	0	30	2		0	0	0	0	0	2	1	9.999999e-01	25	159	0	29	2								-12.903180	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999046	0.990000	1	9.900000e-01	1
LGALS4	3960	broad.mit.edu	37	19	39292481	39292481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292481G>A	ENST00000307751.4	-	10	1372	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4			17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		GAGAGGCGATGGGCAAAGTCA	0.547000																								0							SO:0001583	missense			ENST00000307751.4	0	1	hg19	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034770	0.54896	.	.	ENSG00000171747	ENST00000307751	T	0.04970	3.52	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.81802	2.56	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.02617	-1.1133	10	0.87932	D	0	-25.5554	17.3497	0.87320	0.0:0.0:1.0:0.0	.	299	P56470	LEG4_HUMAN	Y	299	ENSP00000302100:H299Y	ENSP00000302100:H299Y	H	-	1	0	LGALS4	43984321	1.000000	0.71417	0.716000	0.30569	0.023000	0.10783	6.365000	0.73090	2.397000	0.81536	0.491000	0.48974	CAT		TCGA-IB-7651-01A-11D-2154-08	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	0	0	0	12	438	0	73	1	1	173	3106	0	73	2		0	0	0	0	0	2	1	9.990400e-01	12	430	0	73	2								-3.615772	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.330000	0.170000	1.000000	0.310000	0.391301	0.330000	0	2.400000e-01	4.700000e-01
LGALS4	3960	broad.mit.edu	37	19	39292728	39292728	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292728G>A	ENST00000307751.4	-	9	1206	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4			17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		CCACGGTACCGTTGCCCATGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000307751.4	1	1	hg19	CCDS12521.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	1	0	0	54	251	0	67	1	1	1638	1471	0	67	2		0	0	0	0	0	2	1	1	53	246	0	64	2								-20.000000	1	1	121412	10	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGALS4	3960	broad.mit.edu	37	19	39294407	39294407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39294407C>T	ENST00000307751.4	-	6	992	c.515G>A	c.(514-516)tGc>tAc	p.C172Y	LGALS4_ENST00000597803.1_5'Flank	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4			17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		CTGTTGATGGCAATGTCCGGG	0.607000																								0							SO:0001583	missense			ENST00000307751.4	1	1	hg19	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513905	0.00975	.	.	ENSG00000171747	ENST00000307751	T	0.04758	3.56	4.97	-9.95	0.00446	.	4.500960	0.00166	N	0.000001	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	10	0.02654	T	1	2.524	3.8296	0.08868	0.0939:0.1841:0.4266:0.2954	.	172	P56470	LEG4_HUMAN	Y	172	ENSP00000302100:C172Y	ENSP00000302100:C172Y	C	-	2	0	LGALS4	43986247	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.699000	0.01906	-1.700000	0.01414	-1.291000	0.01355	TGC		TCGA-IB-7651-01A-11D-2154-08	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	1	0	1	23	118	0	28	1	1	1812	1804	0	28	2		0	0	0	0	0	2	1	9.999996e-01	23	116	0	28	2								-14.393610	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
RINL	126432	broad.mit.edu	37	19	39360243	39360243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360243G>T	ENST00000591812.1	-	10	1530	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I	RINL_ENST00000598904.1_Missense_Mutation_p.L368I|RINL_ENST00000340740.3_Missense_Mutation_p.L368I|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like			17					GGATCTAAGAGCTCCATAAGA	0.632000											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000591812.1	1	1	hg19	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952248	0.73787	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.37235	1.21	5.27	4.17	0.49024	Vacuolar sorting protein 9 (2);	0.069635	0.56097	D	0.000024	T	0.43010	0.1228	L	0.57536	1.79	0.41040	D	0.985222	P;P	0.47484	0.896;0.747	P;P	0.49853	0.624;0.624	T	0.36456	-0.9747	10	0.52906	T	0.07	-23.169	11.7106	0.51623	0.0:0.0:0.8239:0.1761	.	482;368	B4DPG5;Q6ZS11	.;RINL_HUMAN	I	368	ENSP00000340369:L368I	ENSP00000340369:L368I	L	-	1	0	RINL	44052083	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.849000	0.48286	2.613000	0.88420	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	1	0	1	71	366	0	85	1	9.972497e-01	23	25	0	85	2		0	0	0	0	0	2	1	1	69	359	0	83	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RINL	126432	broad.mit.edu	37	19	39360267	39360267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360267G>T	ENST00000591812.1	-	10	1506	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	RINL_ENST00000598904.1_Missense_Mutation_p.L360M|RINL_ENST00000340740.3_Missense_Mutation_p.L360M|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like			17					TCTACGTCCAGCTGCGTGTCC	0.607000											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000591812.1	1	1	hg19	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053794	0.55218	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.33438	1.41	5.27	4.22	0.49857	Vacuolar sorting protein 9 (2);	0.176689	0.39407	N	0.001373	T	0.43478	0.1249	L	0.42686	1.345	0.33299	D	0.564609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53500	-0.8430	10	0.34782	T	0.22	-15.0535	10.0355	0.42127	0.0946:0.0:0.9054:0.0	.	474;360	B4DPG5;Q6ZS11	.;RINL_HUMAN	M	360	ENSP00000340369:L360M	ENSP00000340369:L360M	L	-	1	2	RINL	44052107	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.971000	0.49248	1.335000	0.45486	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	1	0	1	80	395	0	93	1	9.994794e-01	27	30	0	93	2		0	0	0	0	0	2	1	1	79	388	0	92	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RINL	126432	broad.mit.edu	37	19	39361854	39361854	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39361854G>A	ENST00000591812.1	-	7	551	c.465C>T	c.(463-465)atC>atT	p.I155I	RINL_ENST00000598904.1_Silent_p.I41I|RINL_ENST00000340740.3_Silent_p.I41I|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like			17					GGACCCTGCCGATCTGCACAG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000591812.1	1	1	hg19	CCDS59386.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	1	0	0	28	276	0	44	1	3.518092e-01	2	11	0	44	2		0	0	0	0	0	2	1	1	27	270	0	44	2								-3.318794	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.969200	0.990000	1	9.100000e-01	1
SIRT2	22933	broad.mit.edu	37	19	39379770	39379770	+	Missense_Mutation	SNP	C	C	T	rs144373891	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39379770C>T	ENST00000249396.7	-	8	759	c.458G>A	c.(457-459)cGc>cAc	p.R153H	SIRT2_ENST00000392081.2_Missense_Mutation_p.R116H|SIRT2_ENST00000358931.5_Missense_Mutation_p.R153H	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2			9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		CTTCAGCAGGCGCATGAAGTA	0.622000																								0							SO:0001583	missense			ENST00000249396.7	1	0	hg19	CCDS12523.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	18.51	3.640140	0.67244	0.001362	0.011395	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.01	5.01	0.66863	.	0.186557	0.45867	D	0.000325	T	0.25938	0.0632	M	0.80847	2.515	0.53005	D	0.999967	P;D;D;P	0.62365	0.749;0.991;0.981;0.73	B;P;P;B	0.50440	0.074;0.62;0.641;0.078	T	0.10497	-1.0627	10	0.59425	D	0.04	-16.8523	15.4087	0.74900	0.0:1.0:0.0:0.0	.	153;116;153;133	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	H	153;116;153;138;116;116;116	ENSP00000249396:R153H;ENSP00000375931:R116H;ENSP00000351809:R153H;ENSP00000404309:R116H;ENSP00000385146:R116H;ENSP00000401203:R116H	ENSP00000249396:R153H	R	-	2	0	SIRT2	44071610	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.026000	0.49689	2.630000	0.89119	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1	1	0	1	43	313	0	62	1	1	48	178	0	62	2		0	0	0	0	0	2	1	1	43	307	0	61	2								-2.966168	1	0	121412	1173	62	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999551	0.990000	1	9.900000e-01	1
FBXO17	115290	broad.mit.edu	37	19	39437163	39437163	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39437163A>G	ENST00000292852.4	-	4	847	c.506T>C	c.(505-507)gTg>gCg	p.V169A	SARS2_ENST00000448145.2_Missense_Mutation_p.V4A|CTC-360G5.8_ENST00000599996.1_Silent_p.G73G|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17			7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		CTCCTGCCACACCCCTTCCAT	0.617000																								0							SO:0001583	missense			ENST00000292852.4	1	1	hg19	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199659	0.38905	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.32272	1.46;1.46	4.25	4.25	0.50352	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.321927	0.21695	N	0.070509	T	0.22859	0.0552	L	0.29908	0.895	.	.	.	B;B	0.22541	0.071;0.037	B;B	0.22880	0.042;0.042	T	0.27365	-1.0076	9	0.66056	D	0.02	.	9.9197	0.41457	1.0:0.0:0.0:0.0	.	4;169	E7EX87;Q96EF6	.;FBX17_HUMAN	A	4;178;169	ENSP00000399330:V4A;ENSP00000292852:V169A	ENSP00000292852:V169A	V	-	2	0	FBXO17	44129003	0.758000	0.28405	0.633000	0.29310	0.777000	0.43975	2.350000	0.44063	1.914000	0.55421	0.374000	0.22700	GTG		TCGA-IB-7651-01A-11D-2154-08	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	1	0	1	44	206	0	81	1	9.961730e-01	7	36	0	81	2		0	0	0	0	0	2	1	1	41	194	0	79	2								-19.999980	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO27	126433	broad.mit.edu	37	19	39516062	39516062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39516062G>A	ENST00000292853.4	-	6	960	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C|FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27			17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		TAGGACAGACGGACTCGCACG	0.587000																								0							SO:0001583	missense			ENST00000292853.4	1	1	hg19	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482081	0.44147	2.27E-4	0.0	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.37235	1.21;1.21	3.41	-2.62	0.06152	.	1.761420	0.03259	N	0.183013	T	0.21881	0.0527	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20107	-1.0285	10	0.51188	T	0.08	-15.2278	3.283	0.06922	0.4933:0.0:0.3144:0.1923	.	281	Q8NI29	FBX27_HUMAN	C	281	ENSP00000292853:R281C;ENSP00000437662:R281C	ENSP00000292853:R281C	R	-	1	0	FBXO27	44207902	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.523000	0.06230	-0.420000	0.07427	-0.339000	0.08088	CGT		TCGA-IB-7651-01A-11D-2154-08	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1	1	0	1	70	435	1	117	1	7.042189e-01	2	15	1	117	2		0	0	0	0	0	2	1	1	68	430	1	115	16								-2.879544	1	1	121410	4	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FBXO27	126433	broad.mit.edu	37	19	39517624	39517624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39517624G>A	ENST00000292853.4	-	5	713	c.594C>T	c.(592-594)agC>agT	p.S198S	FBXO27_ENST00000600828.1_Silent_p.S197S|FBXO27_ENST00000509137.2_Silent_p.S198S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27			17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		ACATACAGCCGCTGTCGTGTC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000292853.4	1	1	hg19	CCDS12527.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1	1	0	1	110	575	0	118	1	8.861033e-01	4	18	0	118	2		0	0	0	0	0	2	1	1	109	558	0	118	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAK4	10298	broad.mit.edu	37	19	39667298	39667298	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667298C>T	ENST00000593690.1	+	9	1855	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	PAK4_ENST00000599386.1_Silent_p.V323V|PAK4_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000599470.1_Silent_p.V323V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000360442.3_Silent_p.V476V	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4			13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		AGTCGCTGGTCGGCACGCCCT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000593690.1	1	1	hg19	CCDS12528.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1	0	0	1	197	901	0	201	1	1	77	92	0	201	2		0	0	0	0	0	2	1	1	196	881	0	199	2								-20.000000	1	0	121412	3	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAK4	10298	broad.mit.edu	37	19	39667313	39667313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667313G>A	ENST00000593690.1	+	9	1870	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	PAK4_ENST00000599386.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4			13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		CGCCCTACTGGATGGCCCCAG	0.647000																								0							SO:0001587	stop_gained			ENST00000593690.1	0	1	hg19	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	39	7.304802	0.98200	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5385	0.76021	0.0:0.0:1.0:0.0	.	.	.	.	X	481;328;285;237;481;481	.	ENSP00000326864:W328X	W	+	3	0	PAK4	44359153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.591000	0.98241	2.521000	0.84997	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1	1	0	0	199	803	0	181	1	1	15	141	0	181	2		0	0	0	0	0	2	1	1	198	783	0	179	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EEF2	1938	broad.mit.edu	37	19	3977529	3977529	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3977529C>T	ENST00000309311.6	-	13	2235	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2			21		Hepatocellular(1079;0.137)			GCCCCCTCCGCGGTGGATGGC	0.672000													Colon(165;1804 1908 4071 6587 18799)											0							SO:0001583	missense			ENST00000309311.6	1	1	hg19	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252365	0.80135	.	.	ENSG00000167658	ENST00000309311	T	0.37752	1.18	5.51	5.51	0.81932	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.055071	0.64402	D	0.000002	T	0.77738	0.4175	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87499	0.2432	10	0.87932	D	0	-22.9049	17.9738	0.89121	0.0:1.0:0.0:0.0	.	716	P13639	EF2_HUMAN	H	716	ENSP00000307940:R716H	ENSP00000307940:R716H	R	-	2	0	EEF2	3928529	1.000000	0.71417	0.914000	0.36105	0.082000	0.17680	7.670000	0.83925	2.585000	0.87301	0.556000	0.70494	CGC		TCGA-IB-7651-01A-11D-2154-08	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	1	0	1	21	64	0	12	1	1	1514	4386	0	12	2	1	1	207	938	0	885	2	1	9.999992e-01	21	64	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
LRFN1	57622	broad.mit.edu	37	19	39798496	39798496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798496G>A	ENST00000248668.4	-	2	2092	c.2093C>T	c.(2092-2094)cCg>cTg	p.P698L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1			18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		CTGCGGCCTCGGCCGGGCCGC	0.721000																								0							SO:0001583	missense			ENST00000248668.4	1	1	hg19	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	2.755	-0.259229	0.05791	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.48	2.16	0.27623	.	1.002150	0.08049	N	0.996419	T	0.36413	0.0966	N	0.08118	0	0.32786	N	0.501836	P	0.40083	0.702	B	0.25291	0.059	T	0.33369	-0.9871	10	0.39692	T	0.17	.	10.8054	0.46514	0.0:0.1395:0.7155:0.145	.	698	Q9P244	LRFN1_HUMAN	L	698	ENSP00000248668:P698L	ENSP00000248668:P698L	P	-	2	0	LRFN1	44490336	0.751000	0.28327	0.918000	0.36340	0.040000	0.13550	4.322000	0.59215	0.350000	0.24002	-2.048000	0.00412	CCG		TCGA-IB-7651-01A-11D-2154-08	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	0	21	65	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	9.999992e-01	21	65	0	13	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
LRFN1	57622	broad.mit.edu	37	19	39798503	39798503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798503C>T	ENST00000248668.4	-	2	2085	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1			18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		CTCGGCCGGGCCGCGGCTCCC	0.716000																								0							SO:0001583	missense			ENST00000248668.4	1	1	hg19	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122258	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.63096	-0.02	4.32	4.32	0.51571	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.39200	D	0.963129	P	0.38395	0.629	B	0.31101	0.124	T	0.52616	-0.8552	9	0.54805	T	0.06	.	14.3036	0.66371	0.0:1.0:0.0:0.0	.	696	Q9P244	LRFN1_HUMAN	T	696	ENSP00000248668:A696T	ENSP00000248668:A696T	A	-	1	0	LRFN1	44490343	0.003000	0.15002	0.950000	0.38849	0.046000	0.14306	1.304000	0.33482	1.971000	0.57363	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	0	17	59	0	13	0	5.550146e-02	0	2	0	13	2		0	0	0	0	0	2	1	9.999844e-01	17	59	0	11	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
LRFN1	57622	broad.mit.edu	37	19	39805276	39805276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805276G>A	ENST00000248668.4	-	1	700	c.701C>T	c.(700-702)tCg>tTg	p.S234L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1			18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		GGTGCCCTGCGACCTCAGGAA	0.682000																								0							SO:0001583	missense			ENST00000248668.4	1	1	hg19	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118643	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.3	4.3	0.51218	.	0.200845	0.24848	N	0.035105	T	0.54515	0.1863	L	0.54323	1.7	0.32386	N	0.553962	B	0.17038	0.02	B	0.13407	0.009	T	0.56920	-0.7899	10	0.12766	T	0.61	.	14.2826	0.66224	0.0:0.0:1.0:0.0	.	234	Q9P244	LRFN1_HUMAN	L	234	ENSP00000248668:S234L	ENSP00000248668:S234L	S	-	2	0	LRFN1	44497116	1.000000	0.71417	0.987000	0.45799	0.754000	0.42855	5.523000	0.67099	2.234000	0.73211	0.491000	0.48974	TCG		TCGA-IB-7651-01A-11D-2154-08	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	1	32	100	0	20	0	6.111111e-02	0	2	0	20	2		0	0	0	0	0	2	1	1	32	99	0	20	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRFN1	57622	broad.mit.edu	37	19	39805339	39805339	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805339A>G	ENST00000248668.4	-	1	637	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1			18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		GTCCAGACGGACCAGCTTGTG	0.652000																								0							SO:0001583	missense			ENST00000248668.4	1	1	hg19	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	A	1.314	-0.601228	0.03744	.	.	ENSG00000128011	ENST00000248668	T	0.57273	0.41	4.62	3.61	0.41365	.	0.000000	0.38720	N	0.001581	T	0.31358	0.0794	N	0.25485	0.75	0.47819	D	0.999529	B	0.20052	0.041	B	0.18871	0.023	T	0.13255	-1.0516	10	0.02654	T	1	.	8.0904	0.30797	0.9026:0.0:0.0974:0.0	.	213	Q9P244	LRFN1_HUMAN	A	213	ENSP00000248668:V213A	ENSP00000248668:V213A	V	-	2	0	LRFN1	44497179	0.998000	0.40836	0.957000	0.39632	0.993000	0.82548	3.704000	0.54815	0.810000	0.34279	0.454000	0.30748	GTC		TCGA-IB-7651-01A-11D-2154-08	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	1	34	117	0	23	0	1.348974e-01	0	3	0	23	2		0	0	0	0	0	2	1	1	33	116	0	23	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EEF2	1938	broad.mit.edu	37	19	3981965	3981965	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3981965T>C	ENST00000309311.6	-	6	965	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2			21		Hepatocellular(1079;0.137)			GGGTCCAGGATCAGCTGGCAG	0.647000													Colon(165;1804 1908 4071 6587 18799)											0							SO:0001583	missense			ENST00000309311.6	1	1	hg19	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	T	6.539	0.467734	0.12402	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.76448	-1.02	6.06	6.06	0.98353	Protein synthesis factor, GTP-binding (1);	0.056752	0.85682	D	0.000000	T	0.53045	0.1772	N	0.03903	-0.33	0.48830	D	0.999717	B	0.02656	0.0	B	0.06405	0.002	T	0.53613	-0.8414	10	0.13470	T	0.59	-61.7397	10.1469	0.42769	0.0:0.0737:0.0:0.9263	.	293	P13639	EF2_HUMAN	V	293	ENSP00000307940:I293V	ENSP00000307940:I293V	I	-	1	0	EEF2	3932965	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.109000	0.57824	2.319000	0.78375	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	1	0	1	148	665	0	165	1	1	1479	4781	0	165	2	1	1	208	1003	0	1175	2	1	1	145	660	0	164	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GMFG	9535	broad.mit.edu	37	19	39826613	39826613	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39826613C>T	ENST00000597595.1	-	1	212		c.e1+1		GMFG_ENST00000253054.8_Splice_Site|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000602185.1_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000601387.1_Splice_Site|GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000598034.1_Splice_Site	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma			10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		TGGCCCCTGACCATGATTGTT	0.622000																								0							SO:0001630	splice_region_variant			ENST00000597595.1	0	1	hg19	CCDS12532.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736996	0.30774	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7108	0.51625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GMFG	44518453	0.990000	0.36364	1.000000	0.80357	0.420000	0.31355	2.121000	0.41977	2.113000	0.64589	0.511000	0.50034	.		TCGA-IB-7651-01A-11D-2154-08	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1	0	0	0	6	133	0	23	0	0	0	1	0	23	2		0	0	0	0	0	2	1	9.610534e-01	5	128	0	22	2								-9.246146	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.560000	0.230000	1.000000	1.000000	0.600484	0.560000	0	3.600000e-01	8.700000e-01
SAMD4B	55095	broad.mit.edu	37	19	39847484	39847484	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39847484G>A	ENST00000314471.6	+	0	986				SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000598913.1_De_novo_Start_OutOfFrame|SAMD4B_ENST00000596368.1_De_novo_Start_OutOfFrame	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B			15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		ATGTGACGGCGCTGGCCCTCG	0.677000																								0											ENST00000314471.6	0	1	hg19	CCDS33020.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	0	0	0	12	65	0	20	1	9.981122e-01	25	39	0	20	2		0	0	0	0	0	2	1	9.991328e-01	11	62	0	20	2								-19.992430	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997346	0.990000	1	9.900000e-01	1
MED29	55588	broad.mit.edu	37	19	39884197	39884197	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39884197A>G	ENST00000599213.2	+	3	307	c.280A>G	c.(280-282)Agc>Ggc	p.S94G	PAF1_ENST00000221266.7_5'Flank|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.S94G|MED29_ENST00000315588.5_Missense_Mutation_p.S115G			Q9NX70	MED29_HUMAN	mediator complex subunit 29			4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		CTGTAGAAAGAGCAGTGATGG	0.473000																								0							SO:0001583	missense			ENST00000599213.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	a	9.103	1.004571	0.19199	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.39	4.39	0.52855	.	0.099330	0.64402	D	0.000002	T	0.31979	0.0814	L	0.31065	0.9	0.28778	N	0.899981	P;B	0.36909	0.573;0.006	B;B	0.39706	0.307;0.005	T	0.15983	-1.0418	9	0.21540	T	0.41	-4.0518	11.6009	0.51001	1.0:0.0:0.0:0.0	.	94;115	Q9NX70;B4DUA7	MED29_HUMAN;.	G	115;33	.	ENSP00000314343:S115G	S	+	1	0	MED29	44576037	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	5.703000	0.68340	1.833000	0.53350	0.456000	0.33151	AGC		TCGA-IB-7651-01A-11D-2154-08	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	1	0	1	122	652	0	156	1	1	58	144	0	156	2		0	0	0	0	0	2	1	1	120	641	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHG2	64857	broad.mit.edu	37	19	39905984	39905984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39905984C>A	ENST00000409794.3	+	4	1234	c.384C>A	c.(382-384)taC>taA	p.Y128*	PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Y69*	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2			40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		AACAGGACTACCTGGGCCCTC	0.642000																								0							SO:0001587	stop_gained			ENST00000409794.3	0	1	hg19	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.26|19.26	3.794245|3.794245	0.70452|0.70452	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354	.|.	.|.	.|.	4.49|4.49	3.45|3.45	0.39498|0.39498	.|.	.|0.000000	.|0.47455	.|D	.|0.000222	T|.	0.52901|.	0.1763|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63120|.	-0.6708|.	3|.	.|.	.|.	.|.	.|.	10.3059|10.3059	0.43680|0.43680	0.0:0.9018:0.0:0.0982|0.0:0.9018:0.0:0.0982	.|.	.|.	.|.	.|.	N|X	25|128;128;128;69;128;129	.|.	.|.	T|Y	+|+	2|3	0|2	PLEKHG2|PLEKHG2	44597824|44597824	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	0.373000|0.373000	0.20484|0.20484	1.108000|1.108000	0.41662|0.41662	0.491000|0.491000	0.48974|0.48974	ACC|TAC		TCGA-IB-7651-01A-11D-2154-08	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	0	0	0	10	157	0	29	1	8.765880e-01	6	55	0	29	2		0	0	0	0	0	2	1	9.969750e-01	9	156	0	29	2								-14.048770	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.750000	0.380000	1.000000	1.000000	0.754678	0.750000	0	5.400000e-01	1
PLEKHG2	64857	broad.mit.edu	37	19	39907007	39907007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907007G>A	ENST00000409794.3	+	5	1349	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2			40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		GGAGGACTTGGAGAACAGCAG	0.667000																								0							SO:0001583	missense			ENST00000409794.3	1	1	hg19	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.006214|5.006214	0.93287|0.93287	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354|ENST00000205135	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	4.68|4.68	4.68|4.68	0.58851|0.58851	Dbl homology (DH) domain (5);|.	0.000000|.	0.56097|.	D|.	0.000025|.	T|.	0.73999|.	0.3659|.	M|M	0.70842|0.70842	2.15|2.15	0.50039|0.50039	D|D	0.999843|0.999843	D;D;P|.	0.71674|.	0.998;0.98;0.934|.	D;P;P|.	0.74023|.	0.982;0.896;0.79|.	T|.	0.74372|.	-0.3687|.	10|.	0.87932|.	D|.	0|.	.|.	16.5224|16.5224	0.84320|0.84320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;108;167|.	Q9H7P9;E7ESZ3;Q9H7P9-2|.	PKHG2_HUMAN;.;.|.	K|X	167;167;167;108;167;168|63	ENSP00000386733:E167K;ENSP00000392906:E167K;ENSP00000367812:E167K;ENSP00000408857:E108K;ENSP00000386492:E167K;ENSP00000412818:E168K|.	ENSP00000367812:E167K|.	E|W	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44598847|44598847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	7.981000|7.981000	0.88123|0.88123	2.452000|2.452000	0.82932|0.82932	0.491000|0.491000	0.48974|0.48974	GAG|TGG		TCGA-IB-7651-01A-11D-2154-08	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	1	0	0	56	808	0	151	1	8.254410e-01	3	45	0	151	2		0	0	0	0	0	2	1	1	53	792	0	151	2								-3.221883	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.770000	0.590000	1.000000	0.760000	0.794111	0.770000	0	6.700000e-01	9.200000e-01
PLEKHG2	64857	broad.mit.edu	37	19	39907596	39907596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907596C>T	ENST00000409794.3	+	7	1550	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	PLEKHG2_ENST00000409797.2_Silent_p.L234L|PLEKHG2_ENST00000378550.1_Silent_p.L234L|PLEKHG2_ENST00000425673.1_Silent_p.L234L|PLEKHG2_ENST00000458508.2_Silent_p.L175L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2			40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		GAGCTTCCTGCTGAAACCTGT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000409794.3	1	1	hg19	CCDS33022.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	0	0	1	18	430	0	86	1	6.715197e-01	5	51	0	86	2		0	0	0	0	0	2	1	9.999771e-01	17	417	0	82	2								-17.612570	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.490000	0.290000	1.000000	0.470000	0.536554	0.490000	0	3.800000e-01	6.500000e-01
PLEKHG2	64857	broad.mit.edu	37	19	39908676	39908676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39908676C>A	ENST00000409794.3	+	9	1864	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2			40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		GGCTGCTCTTCCTGTTCTCTC	0.632000																								0							SO:0001583	missense			ENST00000409794.3	0	1	hg19	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.1|21.1	4.098734|4.098734	0.76870|0.76870	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797|ENST00000205135	D;D;D;D;D|.	0.90844|.	-2.74;-2.74;-2.74;-2.74;-2.74|.	4.65|4.65	0.0907|0.0907	0.14464|0.14464	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48857|0.48857	0.1523|0.1523	L|L	0.37697|0.37697	1.125|1.125	0.41715|0.41715	D|D	0.989477|0.989477	P;D;P;P|.	0.69078|.	0.499;0.997;0.55;0.678|.	P;D;P;P|.	0.70716|.	0.708;0.97;0.613;0.519|.	T|T	0.30621|0.30621	-0.9972|-0.9972	10|5	0.87932|.	D|.	0|.	.|.	8.4114|8.4114	0.32646|0.32646	0.0:0.6421:0.0:0.3579|0.0:0.6421:0.0:0.3579	.|.	338;338;279;338|.	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2|.	.;PKHG2_HUMAN;.;.|.	L|Y	338;338;338;279;338|235	ENSP00000386733:F338L;ENSP00000392906:F338L;ENSP00000367812:F338L;ENSP00000408857:F279L;ENSP00000386492:F338L|.	ENSP00000367812:F338L|.	F|S	+|+	3|2	2|0	PLEKHG2|PLEKHG2	44600516|44600516	0.998000|0.998000	0.40836|0.40836	0.875000|0.875000	0.34327|0.34327	0.859000|0.859000	0.49053|0.49053	1.089000|1.089000	0.30890|0.30890	-0.008000|-0.008000	0.14320|0.14320	-0.265000|-0.265000	0.10407|0.10407	TTC|TCC		TCGA-IB-7651-01A-11D-2154-08	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	1	0	0	12	94	0	11	1	9.886669e-01	16	47	0	11	2		0	0	0	0	0	2	1	9.991683e-01	12	91	0	11	2								-19.468540	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.981103	0.990000	1	9.900000e-01	1
SUPT5H	6829	broad.mit.edu	37	19	39955444	39955444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39955444C>T	ENST00000599117.1	+	12	998	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)			51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		GCAGCCCCTGCAGATCAAGTC	0.547000																								0							SO:0001587	stop_gained			ENST00000599117.1	0	1	hg19	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	39	7.821838	0.98507	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.5112	18.4325	0.90632	0.0:1.0:0.0:0.0	.	.	.	.	X	211;207;189;211	.	.	Q	+	1	0	SUPT5H	44647284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.645000	0.89757	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	1	0	0	69	328	0	86	1	1	3	185	0	86	2		0	0	0	0	0	2	1	1	68	327	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUPT5H	6829	broad.mit.edu	37	19	39964966	39964966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39964966C>T	ENST00000599117.1	+	28	3111	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V|SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)			51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		CACCAGGTGGCGCCAAGCCCA	0.632000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000599117.1	1	1	hg19	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898806	0.72639	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.056626	0.64402	D	0.000002	T	0.67192	0.2867	M	0.62723	1.935	0.80722	D	1	D;D;D	0.61697	0.977;0.986;0.99	B;P;P	0.54431	0.269;0.752;0.57	T	0.67764	-0.5586	8	.	.	.	-28.4569	16.8495	0.85990	0.0:1.0:0.0:0.0	.	707;911;915	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	V	915;911;893;915	.	.	A	+	2	0	SUPT5H	44656806	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	5.707000	0.68370	2.515000	0.84797	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	0	0	1	64	262	0	64	1	1	22	368	0	64	2		0	0	0	0	0	2	1	1	61	251	0	63	2								-20.000000	1	1	121412	4	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIMM50	92609	broad.mit.edu	37	19	39972597	39972597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39972597C>A	ENST00000607714.1	+	2	205	c.183C>A	c.(181-183)agC>agA	p.S61R	TIMM50_ENST00000314349.4_Missense_Mutation_p.S164R|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)			14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		AGGGTCCCAGCTATGCCAAAA	0.622000																								0							SO:0001583	missense			ENST00000607714.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.77	3.888964	0.72524	.	.	ENSG00000105197	ENST00000314349	.	.	.	4.65	2.53	0.30540	.	0.110348	0.64402	D	0.000009	T	0.55449	0.1921	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	D	0.66497	0.944	T	0.49418	-0.8942	8	.	.	.	-24.6103	8.1279	0.31010	0.0:0.735:0.0:0.265	.	164	Q3ZCQ8-2	.	R	164	.	.	S	+	3	2	TIMM50	44664437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.156000	0.31712	0.578000	0.29487	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	1	0	1	173	684	0	117	1	1	29	78	0	117	2		0	0	0	0	0	2	1	1	171	676	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIAS4	51588	broad.mit.edu	37	19	4028840	4028840	+	Silent	SNP	C	C	T	rs148838008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4028840C>T	ENST00000262971.2	+	6	910	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4			17					GGGGGAACTACGGCAAGGTGA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000262971.2	1	1	hg19	CCDS12118.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	1	0	0	49	269	0	49	1	9.999999e-01	41	95	0	49	2		0	0	0	0	0	2	1	1	48	263	0	49	2								-5.013329	1	0	121360	35	45	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DYRK1B	9149	broad.mit.edu	37	19	40316646	40316646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316646C>T	ENST00000593685.1	-	11	2067	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	DYRK1B_ENST00000430012.2_Silent_p.S493S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000348817.3_Silent_p.S505S|DYRK1B_ENST00000323039.5_Silent_p.S533S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B			24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		CAGGCAGTGACGAGGCAGAGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000593685.1	1	1	hg19	CCDS12543.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	1	0	0	16	289	0	44	1	7.988819e-01	2	54	0	44	2		0	0	0	0	0	2	1	9.999113e-01	16	275	0	43	2								-18.304570	1	1	117594	1	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.640000	0.380000	1.000000	0.610000	0.674306	0.640000	0	4.900000e-01	8.600000e-01
DYRK1B	9149	broad.mit.edu	37	19	40316827	40316827	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316827C>A	ENST00000593685.1	-	10	1979	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B			24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		TACCTGGGGGCTGTTCATCTC	0.597000																								0							SO:0001583	missense			ENST00000593685.1	1	1	hg19	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141557	0.57044	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.59502	0.26;0.3;0.26	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	L	0.29908	0.895	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.69250	-0.5194	10	0.72032	D	0.01	.	14.0031	0.64446	0.0:1.0:0.0:0.0	.	464;504;476	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	I	504;476;464	ENSP00000312789:S504I;ENSP00000221803:S476I;ENSP00000403182:S464I	ENSP00000312789:S504I	S	-	2	0	DYRK1B	45008667	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.875000	0.75551	1.847000	0.53656	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	0	0	1	68	297	0	75	1	9.999986e-01	26	62	0	75	2		0	0	0	0	0	2	1	1	65	290	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYRK1B	9149	broad.mit.edu	37	19	40318000	40318000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40318000C>T	ENST00000593685.1	-	8	1488	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DYRK1B_ENST00000430012.2_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A|DYRK1B_ENST00000323039.5_Silent_p.A340A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B			24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		GAGCCTTGGGCGCCTGGTCCA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000593685.1	1	1	hg19	CCDS12543.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	1	0	1	39	299	0	35	1	9.928854e-01	12	49	0	35	2		0	0	0	0	0	2	1	1	36	294	0	34	2								-15.726380	1	1	121408	4	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998652	0.990000	1	9.900000e-01	1
DYRK1B	9149	broad.mit.edu	37	19	40319092	40319092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40319092C>T	ENST00000593685.1	-	6	1120	c.652G>A	c.(652-654)Gcg>Acg	p.A218T	DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B			24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		AGCTGCTGCGCCAGCTTCCGG	0.597000																								0							SO:0001583	missense			ENST00000593685.1	1	1	hg19	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	30	5.058047	0.93846	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.67698	-0.28;-0.28;-0.28	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	L	0.35288	1.05	0.80722	D	1	D;D;D	0.71674	0.969;0.98;0.998	P;D;D	0.74023	0.835;0.917;0.982	T	0.69807	-0.5045	10	0.31617	T	0.26	.	17.8657	0.88794	0.0:1.0:0.0:0.0	.	218;218;218	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	T	218	ENSP00000312789:A218T;ENSP00000221803:A218T;ENSP00000403182:A218T	ENSP00000312789:A218T	A	-	1	0	DYRK1B	45010932	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.796000	0.85898	2.826000	0.97356	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	1	0	1	23	102	0	15	1	9.999956e-01	26	72	0	15	2		0	0	0	0	0	2	1	9.999997e-01	23	101	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
FBL	2091	broad.mit.edu	37	19	40327287	40327287	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40327287G>T	ENST00000221801.3	-	7	817	c.704C>A	c.(703-705)gCt>gAt	p.A235D	DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin			9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		GGCCACATCAGCAAAGATCAC	0.537000																								0							SO:0001583	missense			ENST00000221801.3	1	1	hg19	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605171	0.87157	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	H	0.95294	3.65	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.69479	0.919;0.964	D	0.90595	0.4540	9	0.87932	D	0	-10.8703	15.0249	0.71663	0.0:0.0:1.0:0.0	.	174;235	Q96BS4;P22087	.;FBRL_HUMAN	D	235	.	ENSP00000221801:A235D	A	-	2	0	FBL	45019127	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.416000	0.97383	2.123000	0.65237	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	1	0	1	49	209	0	46	1	1	335	731	0	46	2		0	0	0	0	0	2	1	1	49	202	0	45	2								-3.419520	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBL	2091	broad.mit.edu	37	19	40331285	40331285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40331285G>A	ENST00000221801.3	-	2	266	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin			9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		caccgccgccgccgcctccac	0.662000																								0							SO:0001819	synonymous_variant			ENST00000221801.3	1	1	hg19	CCDS12545.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	0	0	1	33	148	0	22	0	3.829961e-01	1	6	0	22	2		0	0	0	0	0	2	1	1	30	137	0	21	2								-2.677920	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PIAS4	51588	broad.mit.edu	37	19	4033503	4033503	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4033503T>C	ENST00000262971.2	+	9	1182	c.1067T>C	c.(1066-1068)aTg>aCg	p.M356T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4			17					TACCTGCAGATGAACGAGAAG	0.677000																								0							SO:0001583	missense			ENST00000262971.2	1	1	hg19	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928367	0.73327	.	.	ENSG00000105229	ENST00000262971	T	0.16073	2.37	4.21	4.21	0.49690	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.58969	1.84	0.80722	D	1	D	0.55172	0.97	P	0.62813	0.907	T	0.09207	-1.0685	10	0.87932	D	0	-46.3971	12.4927	0.55909	0.0:0.0:0.0:1.0	.	356	Q8N2W9	PIAS4_HUMAN	T	356	ENSP00000262971:M356T	ENSP00000262971:M356T	M	+	2	0	PIAS4	3984503	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.952000	0.87827	1.547000	0.49401	0.459000	0.35465	ATG		TCGA-IB-7651-01A-11D-2154-08	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	1	0	1	15	55	0	16	1	9.995414e-01	18	36	0	16	2		0	0	0	0	0	2	1	9.999338e-01	15	55	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999884	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40354319	40354319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40354319G>A	ENST00000221347.6	-	35	16157	c.16150C>T	c.(16150-16152)Cat>Tat	p.H5384Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		TGGGAGTCATGCCAATCATTG	0.547000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.472442	0.00167	.	.	ENSG00000090920	ENST00000221347	T	0.58797	0.31	4.73	-0.618	0.11576	von Willebrand factor, type D domain (3);	2.516040	0.02440	N	0.084491	T	0.33673	0.0871	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.24701	0.055	T	0.14476	-1.0471	10	0.16896	T	0.51	.	4.2223	0.10563	0.0836:0.1329:0.5119:0.2716	.	5384	Q9Y6R7	FCGBP_HUMAN	Y	5384	ENSP00000221347:H5384Y	ENSP00000221347:H5384Y	H	-	1	0	FCGBP	45046159	0.002000	0.14202	0.001000	0.08648	0.030000	0.12068	1.152000	0.31663	0.123000	0.18342	-0.444000	0.05651	CAT		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	52	207	0	47	1	1	80	137	0	47	2		0	0	0	0	0	2	1	1	51	200	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40357401	40357401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357401C>T	ENST00000221347.6	-	34	15919	c.15912G>A	c.(15910-15912)acG>acA	p.T5304T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		TTGGAGTCAACGTCACCATCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000221347.6	1	1	hg19	CCDS12546.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	32	287	0	63	1	9.999939e-01	34	135	0	63	2		0	0	0	0	0	2	1	1	31	283	0	63	2								-12.008420	1	0	121412	1	24	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.987764	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40357450	40357450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357450G>A	ENST00000221347.6	-	34	15870	c.15863C>T	c.(15862-15864)aCg>aTg	p.T5288M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		CACAGCCTCCGTTTTGCCATG	0.547000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082636	0.36758	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.60424	0.19	4.45	-8.91	0.00778	von Willebrand factor, type D domain (3);	3.408990	0.02289	U	0.070141	T	0.47284	0.1437	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.59177	-0.7503	10	0.36615	T	0.2	.	5.0479	0.14494	0.1611:0.0:0.5152:0.3237	.	5288	Q9Y6R7	FCGBP_HUMAN	M	5288	ENSP00000221347:T5288M	ENSP00000221347:T5288M	T	-	2	0	FCGBP	45049290	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.973000	0.01500	-2.355000	0.00614	-1.261000	0.01458	ACG		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	71	232	0	56	1	1	48	115	0	56	2		0	0	0	0	0	2	1	1	70	227	0	56	2								-20.000000	1	0	121412	4	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40357475	40357475	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357475C>T	ENST00000221347.6	-	34	15845	c.15838G>A	c.(15838-15840)Gaa>Aaa	p.E5280K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		ATCTGGACTTCGGCAACTACA	0.577000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586176	0.46110	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.45	3.42	0.39159	von Willebrand factor, type D domain (3);	0.479844	0.13730	U	0.366800	T	0.46464	0.1394	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.56788	0.806	T	0.24404	-1.0161	10	0.20046	T	0.44	.	8.1844	0.31330	0.0:0.8913:0.0:0.1087	.	5280	Q9Y6R7	FCGBP_HUMAN	K	5280	ENSP00000221347:E5280K	ENSP00000221347:E5280K	E	-	1	0	FCGBP	45049315	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	1.529000	0.35996	1.103000	0.41568	-0.136000	0.14681	GAA		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	58	246	0	64	1	1	117	126	0	64	2		0	0	0	0	0	2	1	1	55	243	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40362919	40362919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40362919C>T	ENST00000221347.6	-	32	15158	c.15151G>A	c.(15151-15153)Ggg>Agg	p.G5051R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		CGGAGCTGCCCGCAGGCCTCG	0.672000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031002	0.54790	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	4.84	4.84	0.62591	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	U	0.000001	D	0.87861	0.6284	M	0.82517	2.595	0.40004	D	0.975208	D	0.89917	1.0	D	0.97110	1.0	D	0.87291	0.2299	10	0.33141	T	0.24	.	14.9744	0.71261	0.0:1.0:0.0:0.0	.	5051	Q9Y6R7	FCGBP_HUMAN	R	5051	ENSP00000221347:G5051R	ENSP00000221347:G5051R	G	-	1	0	FCGBP	45054759	0.047000	0.20315	0.851000	0.33527	0.103000	0.19146	1.926000	0.40084	2.521000	0.84997	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	145	513	0	86	1	9.999874e-01	14	45	0	86	2		0	0	0	0	0	2	1	1	143	508	0	84	2								-3.302760	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40368526	40368526	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		CAGGGCCCTCGTACTGCTCCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000221347.6	0	1	hg19	CCDS12546.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	0	0	21	491	0	72	0	2.423060e-01	1	21	0	72	2		0	0	0	0	0	2	1	9.996809e-01	6	294	0	99	2								-19.675930	1	0	121312	18	45	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.500000	0.310000	1.000000	0.480000	0.543412	0.500000	0	3.900000e-01	6.500000e-01
PIAS4	51588	broad.mit.edu	37	19	4037768	4037768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4037768G>A	ENST00000262971.2	+	11	1543	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4			17					CATCGTCCTCggaggatgagg	0.701000																								0							SO:0001819	synonymous_variant			ENST00000262971.2	1	1	hg19	CCDS12118.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	1	0	1	19	74	0	18	1	8.806018e-01	6	11	0	18	2		0	0	0	0	0	2	1	9.999942e-01	17	73	0	18	2								-20.000000	1	0	120754	2	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40384075	40384075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40384075C>T	ENST00000221347.6	-	21	9542	c.9535G>A	c.(9535-9537)Gta>Ata	p.V3179I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		CCCTCACATACGGCTGGCGTC	0.652000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108219	0.20714	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	3.01	-2.27	0.06846	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.66790	0.2825	N	0.21583	0.68	0.09310	N	1	P	0.47910	0.902	P	0.49361	0.608	T	0.59295	-0.7481	9	0.22706	T	0.39	.	8.5511	0.33451	0.0:0.5821:0.2724:0.1455	.	3179	Q9Y6R7	FCGBP_HUMAN	I	3179	ENSP00000221347:V3179I	ENSP00000221347:V3179I	V	-	1	0	FCGBP	45075915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.723000	0.01866	-0.364000	0.08088	-0.723000	0.03601	GTA		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	0	0	83	910	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	53	582	0	199	2								-3.221883	1	1	119160	91	43	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.800000	1.000000	1.000000	0.960350	0.990000	1	8.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40408716	40408716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40408716G>A	ENST00000221347.6	-	8	4130	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		ACGGTGACCCGCACATAGTAC	0.582000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073992	0.36566	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.91	1.21	0.21127	von Willebrand factor, type D domain (3);	0.310015	0.25291	N	0.031721	T	0.43831	0.1265	L	0.60067	1.865	0.27621	N	0.94833	B	0.30851	0.297	B	0.25140	0.058	T	0.35051	-0.9804	10	0.45353	T	0.12	.	3.2293	0.06742	0.0867:0.1356:0.3748:0.403	.	1375	Q9Y6R7	FCGBP_HUMAN	W	1375	ENSP00000221347:R1375W	ENSP00000221347:R1375W	R	-	1	2	FCGBP	45100556	0.000000	0.05858	0.992000	0.48379	0.492000	0.33523	-0.080000	0.11339	0.460000	0.27045	0.644000	0.83932	CGG		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	0	44	384	0	70	1	6.530145e-01	2	19	0	70	2		0	0	0	0	0	2	1	1	40	362	0	71	2								-3.221884	1	1	121412	1	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.910000	1.000000	1.000000	0.994553	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40411738	40411738	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40411738T>C	ENST00000221347.6	-	7	3897	c.3890A>G	c.(3889-3891)aAc>aGc	p.N1297S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		CCAGGCCACGTTCTCCTGCAG	0.637000																								0							SO:0001583	missense			ENST00000221347.6	0	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235974	0.58886	.	.	ENSG00000090920	ENST00000221347	T	0.59638	0.25	4.54	4.54	0.55810	von Willebrand factor, type D domain (3);	0.060710	0.64402	D	0.000007	T	0.73783	0.3631	M	0.84156	2.68	0.37472	D	0.915654	D	0.89917	1.0	D	0.87578	0.998	T	0.75207	-0.3399	10	0.12766	T	0.61	.	12.9805	0.58562	0.0:0.0:0.0:1.0	.	1297	Q9Y6R7	FCGBP_HUMAN	S	1297	ENSP00000221347:N1297S	ENSP00000221347:N1297S	N	-	2	0	FCGBP	45103578	1.000000	0.71417	0.879000	0.34478	0.915000	0.54546	7.407000	0.80029	1.917000	0.55516	0.358000	0.22013	AAC		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	0	0	84	452	0	97	0	6.750266e-02	1	2	0	97	2		0	0	0	0	0	2	1	1	76	388	0	177	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40421334	40421334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40421334T>C	ENST00000221347.6	-	5	2594	c.2587A>G	c.(2587-2589)Acc>Gcc	p.T863A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		CCCTGGCAGGTCCCGAAGCGA	0.682000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436705	0.43224	.	.	ENSG00000090920	ENST00000221347	T	0.21191	2.02	4.06	4.06	0.47325	von Willebrand factor, type D domain (2);	0.536654	0.16074	N	0.230839	T	0.36771	0.0979	M	0.91872	3.25	0.24075	N	0.995967	B	0.29571	0.249	B	0.37601	0.254	T	0.35968	-0.9767	10	0.18710	T	0.47	.	12.4173	0.55500	0.0:0.0:0.0:1.0	.	863	Q9Y6R7	FCGBP_HUMAN	A	863	ENSP00000221347:T863A	ENSP00000221347:T863A	T	-	1	0	FCGBP	45113174	0.001000	0.12720	0.092000	0.20876	0.195000	0.23768	0.973000	0.29422	1.845000	0.53610	0.402000	0.26972	ACC		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	19	78	0	14	1	2.687379e-01	2	3	0	14	2		0	0	0	0	0	2	1	9.999952e-01	18	78	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999950	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40424170	40424170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40424170G>A	ENST00000221347.6	-	4	2040	c.2033C>T	c.(2032-2034)aCc>aTc	p.T678I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		ATCGAGCTTGGTCAGCATGCC	0.632000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987085	0.35036	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	5.34	4.22	0.49857	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.350163	0.20395	N	0.093180	T	0.77532	0.4144	L	0.57130	1.785	0.27972	N	0.936382	P	0.37370	0.592	B	0.41174	0.349	T	0.74426	-0.3669	10	0.51188	T	0.08	.	15.8228	0.78673	0.0:0.187:0.813:0.0	.	678	Q9Y6R7	FCGBP_HUMAN	I	678	ENSP00000221347:T678I	ENSP00000221347:T678I	T	-	2	0	FCGBP	45116010	0.003000	0.15002	0.951000	0.38953	0.604000	0.37047	0.458000	0.21892	2.506000	0.84524	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	271	1177	0	211	1	8.543502e-01	6	11	0	211	2		0	0	0	0	0	2	1	1	265	1159	0	206	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40433172	40433172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433172G>A	ENST00000221347.6	-	2	1104	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		CCCGCTGATAGCCTTCGTCTG	0.617000																								0							SO:0001583	missense			ENST00000221347.6	1	1	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962481	0.53400	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.19250	2.16	4.36	0.89	0.19218	.	0.618007	0.13024	N	0.419844	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.42386	0.386	T	0.17806	-1.0357	10	0.56958	D	0.05	.	7.6149	0.28152	0.0814:0.0:0.6274:0.2912	.	366	Q9Y6R7	FCGBP_HUMAN	V	366	ENSP00000221347:A366V	ENSP00000221347:A366V	A	-	2	0	FCGBP	45125012	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	0.378000	0.20569	0.305000	0.22832	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	17	252	0	47	1	2.633206e-01	6	9	0	47	2		0	0	0	0	0	2	1	9.999697e-01	17	252	0	47	2								-19.852500	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.770000	0.460000	1.000000	1.000000	0.782720	0.770000	0	6.000000e-01	1
FCGBP	8857	broad.mit.edu	37	19	40433216	40433216	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433216T>C	ENST00000221347.6	-	2	1060	c.1053A>G	c.(1051-1053)gtA>gtG	p.V351V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein			165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		CACAGCCTGGTACACTCTTGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000221347.6	1	1	hg19	CCDS12546.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	1	0	1	36	206	0	40	1	6.792199e-01	11	4	0	40	2		0	0	0	0	0	2	1	1	36	201	0	40	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
PSMC4	5704	broad.mit.edu	37	19	40480536	40480536	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40480536A>G	ENST00000157812.2	+	5	773	c.575A>G	c.(574-576)aAg>aGg	p.K192R	PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4			19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				GAGCTCTACAAGCAGGTGAGG	0.617000													Colon(105;1478 1543 4034 6132 38638)											0							SO:0001583	missense			ENST00000157812.2	1	1	hg19	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	a	15.76	2.927663	0.52759	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94897	-3.55;-3.55	5.19	5.19	0.71726	.	0.047137	0.85682	D	0.000000	D	0.88001	0.6320	N	0.11845	0.185	0.58432	D	0.999995	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.003	D	0.83962	0.0322	10	0.39692	T	0.17	-7.8807	12.9876	0.58599	1.0:0.0:0.0:0.0	.	161;192	P43686-2;P43686	.;PRS6B_HUMAN	R	192;161	ENSP00000157812:K192R;ENSP00000413869:K161R	ENSP00000157812:K192R	K	+	2	0	PSMC4	45172376	1.000000	0.71417	0.900000	0.35374	0.768000	0.43524	8.970000	0.93415	1.948000	0.56530	0.402000	0.26972	AAG		TCGA-IB-7651-01A-11D-2154-08	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	0	0	1	59	304	1	52	1	9.999999e-01	138	367	1	52	28		0	0	0	0	0	2	1	9.999967e-01	59	301	1	51	22								-20.000000	1	1	121412	2	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMC4	5704	broad.mit.edu	37	19	40485876	40485876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40485876G>A	ENST00000157812.2	+	7	1024	c.826G>A	c.(826-828)Gat>Aat	p.D276N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4			19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				CAAGAGATTCGATGCTCAGAC	0.582000													Colon(105;1478 1543 4034 6132 38638)											0							SO:0001583	missense			ENST00000157812.2	1	1	hg19	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327241	0.60743	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94966	-3.57;-3.57	5.92	4.89	0.63831	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.723;0.999	D	0.95885	0.8902	10	0.72032	D	0.01	-5.2356	12.746	0.57281	0.079:0.0:0.921:0.0	.	245;276	P43686-2;P43686	.;PRS6B_HUMAN	N	276;245	ENSP00000157812:D276N;ENSP00000413869:D245N	ENSP00000157812:D276N	D	+	1	0	PSMC4	45177716	1.000000	0.71417	0.711000	0.30485	0.045000	0.14185	9.588000	0.98232	1.517000	0.48917	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	1	0	1	42	136	0	34	1	1	191	413	0	34	2		0	0	0	0	0	2	1	1	42	133	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMC4	5704	broad.mit.edu	37	19	40486024	40486024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486024G>A	ENST00000157812.2	+	8	1087	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4			19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				GAATCAGATGGATGGATTTGA	0.552000													Colon(105;1478 1543 4034 6132 38638)											0							SO:0001583	missense			ENST00000157812.2	1	1	hg19	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.319831	0.81469	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95918	-3.85;-3.85	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98674	1.0689	10	0.87932	D	0	-21.9217	18.1147	0.89549	0.0:0.0:1.0:0.0	.	266;297	P43686-2;P43686	.;PRS6B_HUMAN	N	297;266	ENSP00000157812:D297N;ENSP00000413869:D266N	ENSP00000157812:D297N	D	+	1	0	PSMC4	45177864	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.736000	0.84948	2.882000	0.98803	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	0	0	0	12	317	0	52	1	9.999769e-01	41	509	0	52	2		0	0	0	0	0	2	1	9.990043e-01	12	308	0	51	2								-3.725354	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.450000	0.240000	1.000000	0.420000	0.503137	0.450000	0	3.300000e-01	6.400000e-01
PSMC4	5704	broad.mit.edu	37	19	40486618	40486618	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486618T>C	ENST00000157812.2	+	10	1335	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	PSMC4_ENST00000455878.2_Silent_p.C348C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4			19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				ACTCCATCTGTCAGGAGGTAA	0.532000													Colon(105;1478 1543 4034 6132 38638)											0							SO:0001819	synonymous_variant			ENST00000157812.2	1	1	hg19	CCDS12547.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	1	0	0	78	468	0	128	1	1	230	433	0	128	2		0	0	0	0	0	2	1	1	73	455	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF546	339327	broad.mit.edu	37	19	40504294	40504294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40504294C>T	ENST00000347077.4	+	3	277	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546			34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				TCAAATCATTCCTCTGCACTC	0.403000																								0							SO:0001583	missense			ENST00000347077.4	1	1	hg19	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	6.497	0.459971	0.12342	.	.	ENSG00000187187	ENST00000347077	T	0.05855	3.38	1.66	-2.3	0.06785	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	9	0.21540	T	0.41	.	2.7014	0.05149	0.0:0.3319:0.2577:0.4104	.	21	Q86UE3	ZN546_HUMAN	S	21	ENSP00000339823:P21S	ENSP00000339823:P21S	P	+	1	0	ZNF546	45196134	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.425000	0.07017	-0.575000	0.05982	-0.142000	0.14014	CCT		TCGA-IB-7651-01A-11D-2154-08	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	1	0	0	23	201	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	9.999995e-01	22	199	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.810000	1.000000	1.000000	0.984604	0.990000	1	9.900000e-01	1
ZNF546	339327	broad.mit.edu	37	19	40513257	40513257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40513257A>G	ENST00000347077.4	+	5	464	c.248A>G	c.(247-249)gAc>gGc	p.D83G	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546			34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				GTGCAGAGGGACTTGTACAAG	0.458000																								0							SO:0001583	missense			ENST00000347077.4	1	1	hg19	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	8.936	0.964725	0.18583	.	.	ENSG00000187187	ENST00000347077	T	0.01838	4.61	2.83	0.492	0.16872	Krueppel-associated box (4);	.	.	.	.	T	0.02727	0.0082	L	0.61036	1.89	0.23962	N	0.996332	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.46062	-0.9218	9	0.23302	T	0.38	.	4.3135	0.10982	0.3651:0.4817:0.1532:0.0	.	57;83	B3KVL3;Q86UE3	.;ZN546_HUMAN	G	83	ENSP00000339823:D83G	ENSP00000339823:D83G	D	+	2	0	ZNF546	45205097	0.000000	0.05858	0.682000	0.30024	0.667000	0.39255	-1.491000	0.02302	-0.053000	0.13289	0.450000	0.29827	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	1	0	1	77	335	0	87	1	4.610209e-01	4	4	0	87	2		0	0	0	0	0	2	1	1	75	329	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF546	339327	broad.mit.edu	37	19	40521033	40521033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40521033G>A	ENST00000347077.4	+	7	2072	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	p.R619Q(1)		34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				AAAGCCTTTCGATTTCAAACA	0.363000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000347077.4	1	1	hg19	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223971	0.39300	2.27E-4	0.0	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.52754	0.65	2.91	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43478	0.1249	N	0.26130	0.795	0.09310	N	1	D	0.76494	0.999	P	0.58331	0.837	T	0.17868	-1.0355	9	0.37606	T	0.19	.	3.904	0.09174	0.1318:0.0:0.6354:0.2327	.	619	Q86UE3	ZN546_HUMAN	Q	619;228	ENSP00000339823:R619Q	ENSP00000339823:R619Q	R	+	2	0	ZNF546	45212873	0.000000	0.05858	0.081000	0.20488	0.968000	0.65278	-2.640000	0.00865	0.744000	0.32741	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	1	0	1	45	168	0	53	1	7.103095e-01	2	9	0	53	2		0	0	0	0	0	2	1	1	44	168	0	53	2								-3.574022	1	1	121412	1	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF780B	163131	broad.mit.edu	37	19	40542318	40542318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40542318G>T	ENST00000434248.1	-	5	513	c.448C>A	c.(448-450)Cct>Act	p.P150T	ZNF780B_ENST00000221355.6_Missense_Mutation_p.P2T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B			23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				GTATAAGCAGGCATTTCTTCA	0.343000																								0							SO:0001583	missense			ENST00000434248.1	1	1	hg19	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	3.475	-0.107085	0.06924	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.06371	3.49;3.31	2.14	-0.299	0.12808	.	.	.	.	.	T	0.04272	0.0118	N	0.17345	0.48	0.09310	N	1	P	0.48764	0.915	B	0.43413	0.419	T	0.39603	-0.9606	9	0.72032	D	0.01	.	4.6214	0.12450	0.5191:0.0:0.4809:0.0	.	150	Q9Y6R6	Z780B_HUMAN	T	150;2	ENSP00000391641:P150T;ENSP00000221355:P2T	ENSP00000221355:P2T	P	-	1	0	ZNF780B	45234158	.	.	0.011000	0.14972	0.073000	0.16967	.	.	0.192000	0.20272	0.313000	0.20887	CCT		TCGA-IB-7651-01A-11D-2154-08	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	1	0	1	54	212	0	43	0	4.272319e-02	0	2	0	43	2		0	0	0	0	0	2	1	1	53	207	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF780A	284323	broad.mit.edu	37	19	40581425	40581425	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40581425C>T	ENST00000595687.2	-	6	1133	c.924G>A	c.(922-924)aaG>aaA	p.K308K	ZNF780A_ENST00000450241.2_Silent_p.K274K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000455521.1_Silent_p.K309K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	p.K274N(1)|p.K309N(1)		31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)				TCCCACATTCCTTACATACAA	0.388000																								2	Substitution - Missense(2)						SO:0001819	synonymous_variant			ENST00000595687.2	1	1	hg19	CCDS33026.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	1	0	0	168	691	0	153	0	6.630444e-01	0	11	0	153	2		0	0	0	0	0	2	1	1	162	677	0	153	2								-3.530410	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K10	4294	broad.mit.edu	37	19	40719444	40719444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40719444G>A	ENST00000253055.3	+	9	2146	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10			24					GGAGGCAGAGGATGGAGGCAG	0.721000																								0							SO:0001583	missense			ENST00000253055.3	1	1	hg19	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822251	0.32237	.	.	ENSG00000130758	ENST00000253055	T	0.75367	-0.93	4.49	4.49	0.54785	.	0.953020	0.08742	N	0.900357	T	0.69351	0.3101	L	0.36672	1.1	0.35487	D	0.798683	B	0.19817	0.039	B	0.21917	0.037	T	0.65796	-0.6081	10	0.49607	T	0.09	.	14.6516	0.68800	0.0:0.0:1.0:0.0	.	620	Q02779	M3K10_HUMAN	N	620	ENSP00000253055:D620N	ENSP00000253055:D620N	D	+	1	0	MAP3K10	45411284	0.663000	0.27448	0.671000	0.29857	0.238000	0.25445	1.213000	0.32407	2.040000	0.60383	0.313000	0.20887	GAT		TCGA-IB-7651-01A-11D-2154-08	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	1	0	0	34	117	0	40	1	9.989176e-01	13	27	0	40	2		0	0	0	0	0	2	1	1	33	114	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC9B	148014	broad.mit.edu	37	19	40724059	40724059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40724059C>T	ENST00000311308.6	-	1	247	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B			5					CTTCTTCTCTCGATAGCAGCG	0.736000																								0							SO:0001583	missense			ENST00000311308.6	1	1	hg19	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829604	0.91036	.	.	ENSG00000174521	ENST00000311308	T	0.15718	2.4	4.46	4.46	0.54185	Tetratricopeptide-like helical (1);	0.154213	0.43260	N	0.000583	T	0.15089	0.0364	L	0.42529	1.33	0.35092	D	0.764423	D	0.53312	0.959	B	0.42462	0.388	T	0.18241	-1.0343	10	0.52906	T	0.07	-4.3192	8.5051	0.33181	0.0:0.8921:0.0:0.1079	.	77	Q8N6N2	TTC9B_HUMAN	Q	77	ENSP00000311760:R77Q	ENSP00000311760:R77Q	R	-	2	0	TTC9B	45415899	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.290000	0.65661	2.049000	0.60858	0.289000	0.19496	CGA		TCGA-IB-7651-01A-11D-2154-08	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	1	0	0	10	148	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.971750e-01	10	148	0	35	2								-3.322669	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.790000	0.400000	1.000000	1.000000	0.784006	0.790000	0	5.700000e-01	1
AKT2	208	broad.mit.edu	37	19	40743876	40743876	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40743876C>A	ENST00000392038.2	-	9	1129	c.831G>T	c.(829-831)aaG>aaT	p.K277N	AKT2_ENST00000311278.6_Splice_Site_p.K277N|AKT2_ENST00000424901.1_Splice_Site_p.K277N|AKT2_ENST00000579047.1_Splice_Site_p.K215N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2			27			Lung(22;0.000499)		TGCCACTAACCTTGATGTCGC	0.592000			A		ovarian, pancreatic 										Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0							SO:0001630	splice_region_variant			ENST00000392038.2	0	1	hg19	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981905	0.93044	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	D;D;D	0.91124	-2.79;-2.79;-2.79	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	H	0.95224	3.64	0.80722	D	1	D;D;D	0.69078	0.997;0.983;0.997	D;D;D	0.79784	0.993;0.968;0.993	D	0.97672	1.0167	9	.	.	.	.	17.698	0.88286	0.0:1.0:0.0:0.0	.	215;277;277	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	N	277;178;277;277;97	ENSP00000375892:K277N;ENSP00000399532:K277N;ENSP00000309428:K277N	.	K	-	3	2	AKT2	45435716	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.585000	0.82584	2.778000	0.95560	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	0	0	0	13	121	0	27	1	9.999987e-01	13	258	0	27	2		0	0	0	0	0	2	1	9.983489e-01	9	97	0	20	2								-19.222650	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.660000	1.000000	1.000000	0.959090	0.990000	1	8.900000e-01	1
PLD3	23646	broad.mit.edu	37	19	40884077	40884077	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40884077C>A	ENST00000409587.1	+	13	1867	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L|PLD3_ENST00000356508.5_Silent_p.L490L|PLD3_ENST00000409419.1_Silent_p.L490L			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3			20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		GCCGCCTGCTCTGAGGCCCGA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000409587.1	1	1	hg19	CCDS33027.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	1	0	1	111	509	0	112	1	1	137	1022	0	112	2		0	0	0	0	0	2	1	1	109	504	0	111	2								-3.267700	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIPK4	147746	broad.mit.edu	37	19	40885655	40885655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40885655C>T	ENST00000291823.2	-	4	1974	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4			20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		CTGCTGGGGTCGAAGAGCTCA	0.637000																								0							SO:0001583	missense			ENST00000291823.2	0	1	hg19	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760290	0.49468	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.68903	-0.36	5.12	3.01	0.34805	.	0.210963	0.33110	N	0.005276	T	0.49983	0.1589	L	0.27053	0.805	0.33448	D	0.583264	B	0.13594	0.008	B	0.08055	0.003	T	0.55988	-0.8053	10	0.87932	D	0	.	7.9341	0.29920	0.0:0.8099:0.0:0.1901	.	564	Q8NE63	HIPK4_HUMAN	N	564;529	ENSP00000291823:D564N	ENSP00000291823:D564N	D	-	1	0	HIPK4	45577495	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	0.864000	0.27926	0.685000	0.31468	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	1	0	1	19	108	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999925e-01	18	105	0	18	2								-3.357581	1	1	121348	1	20	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999330	0.990000	1	9.900000e-01	1
HIPK4	147746	broad.mit.edu	37	19	40889760	40889760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889760C>T	ENST00000291823.2	-	2	1036	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4			20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		GTGGGGGTTGCGCTTGAAGAA	0.617000																								0							SO:0001583	missense			ENST00000291823.2	1	1	hg19	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665394	0.88251	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.20463	2.07	5.97	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.442639	0.21619	N	0.071672	T	0.33381	0.0861	L	0.41415	1.275	0.29641	N	0.844739	D	0.63046	0.992	P	0.59643	0.861	T	0.17440	-1.0369	10	0.72032	D	0.01	.	13.5773	0.61881	0.1558:0.8442:0.0:0.0	.	251	Q8NE63	HIPK4_HUMAN	H	251;216	ENSP00000291823:R251H	ENSP00000291823:R251H	R	-	2	0	HIPK4	45581600	0.977000	0.34250	0.999000	0.59377	0.818000	0.46254	2.702000	0.47102	1.472000	0.48140	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	1	0	1	66	332	0	77	0	2.840399e-02	0	2	0	77	2		0	0	0	0	0	2	1	1	64	325	0	75	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIPK4	147746	broad.mit.edu	37	19	40889978	40889978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889978C>T	ENST00000291823.2	-	2	818	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4			20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		GGTAGAAGCGCGACTGGATGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000291823.2	1	1	hg19	CCDS12555.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	1	0	1	85	373	0	97	0	9.240646e-02	0	3	0	97	2		0	0	0	0	0	2	1	1	85	368	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIPK4	147746	broad.mit.edu	37	19	40895661	40895661	+	Missense_Mutation	SNP	C	C	T	rs146668696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40895661C>T	ENST00000291823.2	-	1	433	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4			20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		CTTGATGATGCGGTTGCGGTA	0.607000																								0							SO:0001583	missense			ENST00000291823.2	1	1	hg19	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692122	0.30052	0.0	1.16E-4	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.65916	-0.18	4.93	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127834	0.36303	N	0.002673	T	0.45677	0.1354	N	0.25485	0.75	0.25777	N	0.984778	B	0.13145	0.007	B	0.14578	0.011	T	0.41270	-0.9518	10	0.56958	D	0.05	.	8.2578	0.31766	0.0:0.7512:0.0:0.2488	.	50	Q8NE63	HIPK4_HUMAN	H	50;15	ENSP00000291823:R50H	ENSP00000291823:R50H	R	-	2	0	HIPK4	45587501	0.006000	0.16342	0.928000	0.36995	0.676000	0.39594	0.548000	0.23314	0.697000	0.31718	-0.983000	0.02560	CGC		TCGA-IB-7651-01A-11D-2154-08	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	1	0	1	106	752	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	105	739	0	123	2								-20.000000	1	1	121412	2	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PRX	57716	broad.mit.edu	37	19	40902860	40902860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902860C>A	ENST00000324001.7	-	7	1669	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin			47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		AGCTCCACCTCTGGGAGTCGA	0.597000																								0							SO:0001587	stop_gained			ENST00000324001.7	0	1	hg19	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699520	0.88830	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	.	.	.	4.14	3.08	0.35506	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.25965	N	0.982578	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-23.9548	7.2074	0.25915	0.0:0.7304:0.1748:0.0948	.	.	.	.	X	467	.	ENSP00000326018:E467X	E	-	1	0	PRX	45594700	0.001000	0.12720	0.098000	0.21074	0.334000	0.28698	0.561000	0.23515	1.089000	0.41292	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	1	0	1	195	777	0	203	1	9.840624e-01	7	21	0	203	2		0	0	0	0	0	2	1	1	187	758	0	203	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRX	57716	broad.mit.edu	37	19	40903814	40903814	+	Missense_Mutation	SNP	C	C	T	rs142436391	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40903814C>T	ENST00000324001.7	-	7	715	c.445G>A	c.(445-447)Gct>Act	p.A149T	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin			47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		GCCAGGTCAGCGGGGACCCCC	0.637000																								0							SO:0001583	missense			ENST00000324001.7	0	0	hg19	CCDS33028.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.55	3.155901	0.57259	0.008174	0.0	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01947	4.54	4.9	1.41	0.22369	.	0.606997	0.14706	N	0.303278	T	0.02047	0.0064	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.64343	-0.6430	10	0.41790	T	0.15	-0.3875	5.7664	0.18229	0.1664:0.6481:0.0:0.1855	.	149	Q9BXM0	PRAX_HUMAN	T	149	ENSP00000326018:A149T	ENSP00000326018:A149T	A	-	1	0	PRX	45595654	0.755000	0.28372	0.998000	0.56505	0.987000	0.75469	0.316000	0.19469	0.660000	0.30964	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	1	0	1	11	101	0	17	0	3.988726e-01	1	12	0	17	2		0	0	0	0	0	2	1	9.984652e-01	11	99	0	16	2								-17.207380	1	0	121372	89	45	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.640000	1.000000	1.000000	0.955958	0.990000	1	8.800000e-01	1
PRX	57716	broad.mit.edu	37	19	40904649	40904649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40904649C>T	ENST00000324001.7	-	6	529	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PRX_ENST00000291825.7_Missense_Mutation_p.A87T	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin			47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		TAAGGCTCGGCGCATTGCAGC	0.647000																								0							SO:0001583	missense			ENST00000324001.7	1	1	hg19	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177345	0.78564	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.04015	3.73;3.73	5.18	5.18	0.71444	PDZ/DHR/GLGF (2);	0.055231	0.64402	D	0.000001	T	0.16041	0.0386	L	0.46819	1.47	0.53005	D	0.999968	D;D	0.76494	0.997;0.999	P;D	0.66847	0.715;0.947	T	0.00249	-1.1879	10	0.66056	D	0.02	-21.7664	17.4638	0.87627	0.0:1.0:0.0:0.0	.	87;87	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	T	87	ENSP00000326018:A87T;ENSP00000291825:A87T	ENSP00000291825:A87T	A	-	1	0	PRX	45596489	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.163000	0.58183	2.433000	0.82419	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	1	0	1	56	298	0	49	1	8.643467e-01	6	15	0	49	2		0	0	0	0	0	2	1	1	56	297	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERTAD1	29950	broad.mit.edu	37	19	40929186	40929186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40929186C>T	ENST00000357949.4	-	2	426	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1			5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		GGGCTAGGCACAGGTGGCAGG	0.672000																								0							SO:0001583	missense			ENST00000357949.4	1	1	hg19	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010296	0.35511	.	.	ENSG00000197019	ENST00000357949	T	0.45276	0.9	4.94	4.94	0.65067	.	0.786233	0.11520	N	0.555829	T	0.28499	0.0705	N	0.14661	0.345	0.27912	N	0.938579	P	0.44090	0.826	B	0.37833	0.259	T	0.09818	-1.0657	10	0.36615	T	0.2	-8.3617	15.0822	0.72122	0.0:1.0:0.0:0.0	.	90	Q9UHV2	SRTD1_HUMAN	M	90	ENSP00000350633:V90M	ENSP00000350633:V90M	V	-	1	0	SERTAD1	45621026	0.068000	0.21057	0.916000	0.36221	0.141000	0.21300	1.351000	0.34022	2.293000	0.77203	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	1	0	1	20	99	0	25	1	1	72	141	0	25	2		0	0	0	0	0	2	1	9.999970e-01	20	97	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999839	0.990000	1	9.900000e-01	1
SERTAD3	29946	broad.mit.edu	37	19	40947463	40947463	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40947463G>T	ENST00000322354.3	-	2	1021	c.525C>A	c.(523-525)ttC>ttA	p.F175L	SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3			7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		CTGGGGCACAGAAGAGGTTGT	0.527000																								0							SO:0001583	missense			ENST00000322354.3	1	1	hg19	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533168	0.45073	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	3.9	0.45041	.	0.172395	0.39341	N	0.001382	T	0.28797	0.0714	N	0.08118	0	0.34746	D	0.731295	B	0.12013	0.005	B	0.08055	0.003	T	0.24154	-1.0168	9	0.22706	T	0.39	-14.1294	9.171	0.37081	0.1658:0.0:0.8342:0.0	.	175	Q9UJW9	SRTD3_HUMAN	L	175	.	ENSP00000325414:F175L	F	-	3	2	SERTAD3	45639303	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.376000	0.52417	0.885000	0.36088	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	0	0	1	96	560	1	118	1	1	79	207	1	118	10		0	0	0	0	0	2	1	1	93	549	1	116	19								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTBN4	57731	broad.mit.edu	37	19	40978533	40978533	+	Missense_Mutation	SNP	C	C	T	rs139091351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40978533C>T	ENST00000352632.3	+	2	91	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		TCCCCGATGGCGCAGGTACCA	0.597000																								0							SO:0001583	missense			ENST00000352632.3	1	1	hg19	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230017	0.39399	2.27E-4	0.0	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.80214	-1.35;-1.28;-1.32	5.91	5.91	0.95273	.	0.229203	0.25991	U	0.027010	D	0.82870	0.5131	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	D	0.84093	0.0391	10	0.59425	D	0.04	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	2;2	Q9H254;Q71S06	SPTN4_HUMAN;.	V	2	ENSP00000263373:A2V;ENSP00000340345:A2V;ENSP00000340741:A2V	ENSP00000340345:A2V	A	+	2	0	SPTBN4	45670373	0.997000	0.39634	1.000000	0.80357	0.175000	0.22909	3.673000	0.54591	2.793000	0.96121	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	0	19	108	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999941e-01	19	107	0	31	2								-20.000000	1	1	121376	5	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999330	0.990000	1	9.900000e-01	1
MAP2K2	5605	broad.mit.edu	37	19	4099233	4099233	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4099233C>T	ENST00000262948.5	-	7	1138	c.885G>A	c.(883-885)tcG>tcA	p.S295S	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Silent_p.S198S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2					Hepatocellular(1079;0.137)		Bosutinib(DB06616)|Trametinib(DB08911)	TCGGCCGAGGCGAGATGCTGT	0.706000																								0							SO:0001819	synonymous_variant			ENST00000262948.5	0	1	hg19	CCDS12120.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2	1	0	1	18	52	0	10	1	1	175	254	0	10	2		0	0	0	0	0	2	1	9.999925e-01	18	51	0	10	2								-20.000000	1	1	120614	1	20	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
SPTBN4	57731	broad.mit.edu	37	19	41008410	41008410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41008410A>G	ENST00000352632.3	+	10	1285	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D400G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		TGGGATATTGACAAGGTGAGG	0.562000																								0							SO:0001583	missense			ENST00000352632.3	1	1	hg19	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746265	0.49257	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.68624	-0.34;-0.34;-0.34	3.54	3.54	0.40534	.	0.216512	0.30890	U	0.008677	T	0.61160	0.2325	L	0.34521	1.04	0.80722	D	1	P;P	0.46621	0.881;0.702	P;B	0.47864	0.559;0.283	T	0.65195	-0.6227	10	0.56958	D	0.05	.	12.0093	0.53278	1.0:0.0:0.0:0.0	.	400;400	Q9H254;Q71S06	SPTN4_HUMAN;.	G	400	ENSP00000263373:D400G;ENSP00000340345:D400G;ENSP00000340741:D400G	ENSP00000340345:D400G	D	+	2	0	SPTBN4	45700250	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.989000	0.93506	1.851000	0.53745	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0	0	0	16	342	0	77	0	2.354571e-03	0	2	0	77	2		0	0	0	0	0	2	1	9.999251e-01	16	334	0	75	2								-17.006540	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.550000	0.320000	1.000000	0.520000	0.589081	0.550000	0	4.200000e-01	7.400000e-01
SPTBN4	57731	broad.mit.edu	37	19	41009865	41009865	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41009865C>T	ENST00000352632.3	+	12	1577	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A|SPTBN4_ENST00000338932.3_Silent_p.A497A|SPTBN4_ENST00000595535.1_Silent_p.A497A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		CATTGGCAGCCGAAGGCTACT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000352632.3	1	1	hg19	CCDS12559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0	0	0	16	292	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.999161e-01	16	280	0	48	2								-2.972314	1	1	121392	5	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.640000	0.370000	1.000000	0.600000	0.668801	0.640000	0	4.900000e-01	8.600000e-01
SPTBN4	57731	broad.mit.edu	37	19	41019444	41019444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41019444C>T	ENST00000352632.3	+	14	2834	c.2748C>T	c.(2746-2748)gtC>gtT	p.V916V	SPTBN4_ENST00000598249.1_Silent_p.V916V|SPTBN4_ENST00000344104.3_Silent_p.V916V|SPTBN4_ENST00000338932.3_Silent_p.V916V|SPTBN4_ENST00000595535.1_Silent_p.V916V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		TCGACGACGTCGAGGTGGTGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000352632.3	0	1	hg19	CCDS12559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	0	7	72	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.822560e-01	7	72	0	9	2								-12.610590	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.490000	1.000000	1.000000	0.912639	0.990000	1	7.500000e-01	1
SPTBN4	57731	broad.mit.edu	37	19	41021217	41021217	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41021217G>T	ENST00000352632.3	+	15	2851		c.e15-1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		TCCTCCTGCAGATTCGAGAGC	0.537000																								0							SO:0001630	splice_region_variant			ENST00000352632.3	0	1	hg19	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918493	0.73098	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7914	0.78367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN4	45713057	1.000000	0.71417	0.567000	0.28434	0.864000	0.49448	9.595000	0.98260	2.256000	0.74724	0.491000	0.48974	.		TCGA-IB-7651-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0	0	0	5	90	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.320133e-01	5	86	0	23	2								-8.826438	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.690000	0.260000	1.000000	1.000000	0.699480	0.690000	0	4.300000e-01	1
SPTBN4	57731	broad.mit.edu	37	19	41040188	41040188	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41040188C>T	ENST00000352632.3	+	20	4383	c.4297C>T	c.(4297-4299)Ctg>Ttg	p.L1433L	SPTBN4_ENST00000392023.1_Silent_p.L109L|SPTBN4_ENST00000598249.1_Silent_p.L1433L|SPTBN4_ENST00000338932.3_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L|SPTBN4_ENST00000595535.1_Silent_p.L1433L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		GGAGAGCCAGCTGCAAGACGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000352632.3	0	1	hg19	CCDS12559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0	0	0	6	234	0	49	1	1.284134e-02	2	4	0	49	2		0	0	0	0	0	2	1	9.646195e-01	6	233	0	48	2								-7.406846	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.330000	0.130000	1.000000	0.300000	0.390239	0.330000	0	2.100000e-01	5.200000e-01
SPTBN4	57731	broad.mit.edu	37	19	41062025	41062025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41062025G>A	ENST00000352632.3	+	25	5206	c.5120G>A	c.(5119-5121)cGc>cAc	p.R1707H	SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		CAGGTGGACCGCCTGTACGTG	0.667000																								0							SO:0001583	missense			ENST00000352632.3	1	1	hg19	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509478	0.85282	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000004	T	0.64103	0.2568	L	0.54323	1.7	0.38876	D	0.956803	D;D;D;D	0.89917	1.0;0.971;1.0;1.0	D;P;D;D	0.91635	0.997;0.576;0.999;0.993	T	0.70346	-0.4897	10	0.87932	D	0	.	15.682	0.77376	0.0:0.0:1.0:0.0	.	450;383;1707;1707	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	H	1707;1707;1707;450;383	ENSP00000263373:R1707H;ENSP00000340345:R1707H;ENSP00000375879:R450H;ENSP00000375877:R383H	ENSP00000340345:R1707H	R	+	2	0	SPTBN4	45753865	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	1.861000	0.39438	2.209000	0.71365	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	1	25	145	0	32	1	3.459419e-01	2	6	0	32	2		0	0	0	0	0	2	1	9.999999e-01	25	144	0	31	2								-20.000000	1	1	121400	1	25	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999766	0.990000	1	9.900000e-01	1
SPTBN4	57731	broad.mit.edu	37	19	41063119	41063119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41063119C>A	ENST00000352632.3	+	26	5566	c.5480C>A	c.(5479-5481)gCc>gAc	p.A1827D	SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		GGCACACGGGCCCAGCTGCTG	0.647000																								0							SO:0001583	missense			ENST00000352632.3	1	1	hg19	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773259	0.69992	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	3.63	3.63	0.41609	.	0.090141	0.42172	D	0.000757	T	0.53769	0.1817	L	0.40543	1.245	0.38408	D	0.94585	D;D;D;P	0.71674	0.979;0.957;0.998;0.949	P;P;D;P	0.66497	0.815;0.693;0.944;0.83	T	0.49916	-0.8888	10	0.13470	T	0.59	.	14.5979	0.68419	0.0:1.0:0.0:0.0	.	570;503;1827;1827	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	D	1827;1827;1827;570;503	ENSP00000263373:A1827D;ENSP00000340345:A1827D;ENSP00000375879:A570D;ENSP00000375877:A503D	ENSP00000340345:A1827D	A	+	2	0	SPTBN4	45754959	0.002000	0.14202	0.999000	0.59377	0.989000	0.77384	1.157000	0.31724	2.036000	0.60181	0.455000	0.32223	GCC		TCGA-IB-7651-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	1	60	214	0	52	0	6.795277e-01	1	9	0	52	2		0	0	0	0	0	2	1	1	60	211	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LTBP4	8425	broad.mit.edu	37	19	41119858	41119858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41119858G>A	ENST00000308370.7	+	21	2795	c.2795G>A	c.(2794-2796)aGc>aAc	p.S932N	LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N|LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4			1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		CTTTGCCAGAGCGGCATCTGT	0.682000																								0							SO:0001583	missense			ENST00000308370.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.71	2.319803	0.41096	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.95588	-2.93;-2.93;-2.93;-2.93;-3.75	4.61	3.58	0.41010	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.165873	0.29846	N	0.011060	D	0.84880	0.5570	N	0.02225	-0.63	0.80722	D	1	B;P;P;B;P	0.36837	0.0;0.571;0.51;0.259;0.51	B;B;B;B;B	0.38803	0.004;0.213;0.229;0.229;0.282	T	0.81342	-0.0976	10	0.12430	T	0.62	.	8.3198	0.32121	0.1852:0.0:0.8148:0.0	.	30;152;865;932;895	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	N	895;385;932;865;30	ENSP00000204005:S895N;ENSP00000441054:S385N;ENSP00000311905:S932N;ENSP00000380031:S865N;ENSP00000243562:S30N	ENSP00000204005:S895N	S	+	2	0	LTBP4	45811698	0.343000	0.24818	1.000000	0.80357	0.994000	0.84299	3.480000	0.53172	1.175000	0.42826	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	43	165	0	26	1	1	11	197	0	26	2		0	0	0	0	0	2	1	1	43	161	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LTBP4	8425	broad.mit.edu	37	19	41125325	41125325	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41125325C>A	ENST00000308370.7	+	26	3342	c.3342C>A	c.(3340-3342)ctC>ctA	p.L1114L	LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000396819.3_Silent_p.L1047L|LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4			1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		GCTCCTTCCTCTGTGTCTGCC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000308370.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	53	371	0	61	1	1	13	385	0	61	2		0	0	0	0	0	2	1	1	53	363	0	60	2								-3.221896	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999913	0.990000	1	9.900000e-01	1
LTBP4	8425	broad.mit.edu	37	19	41135381	41135381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41135381C>T	ENST00000308370.7	+	34	4798	c.4798C>T	c.(4798-4800)Cgc>Tgc	p.R1600C	LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4			1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		TGGCTCCTTCCGCTGCATCTG	0.706000																								0							SO:0001583	missense			ENST00000308370.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.70	3.679465	0.68042	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D	0.92545	-3.06;-3.06;-3.06	3.82	3.82	0.43975	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.35936	N	0.002889	D	0.95322	0.8482	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.977;0.977;0.991;0.986;0.986	D	0.95356	0.8451	9	0.87932	D	0	.	11.0964	0.48147	0.0:0.8112:0.1888:0.0	.	361;613;1533;1601;1563	F5GYA5;Q8N2S1-4;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	C	1563;1600;1533;361	ENSP00000204005:R1563C;ENSP00000311905:R1600C;ENSP00000380031:R1533C	ENSP00000204005:R1563C	R	+	1	0	LTBP4	45827221	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.862000	0.27899	2.136000	0.66102	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	27	263	0	53	1	9.999993e-01	11	218	0	53	2		0	0	0	0	0	2	1	1	26	259	0	53	2								-2.966611	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.970878	0.990000	1	9.200000e-01	1
NUMBL	9253	broad.mit.edu	37	19	41173718	41173718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173718C>T	ENST00000252891.4	-	10	1652	c.1485G>A	c.(1483-1485)ccG>ccA	p.P495P	NUMBL_ENST00000540131.1_Silent_p.P454P|NUMBL_ENST00000598779.1_Silent_p.P454P	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like			16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		AGCCCAAGCCCGGGTAGGCGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000252891.4	0	1	hg19	CCDS12561.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	1	0	1	13	49	0	11	1	9.999880e-01	10	83	0	11	2		0	0	0	0	0	2	1	9.997308e-01	13	49	0	9	2								-11.668740	1	1	119502	33	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999695	0.990000	1	9.900000e-01	1
NUMBL	9253	broad.mit.edu	37	19	41173926	41173926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173926G>A	ENST00000252891.4	-	10	1444	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	NUMBL_ENST00000540131.1_Missense_Mutation_p.A385V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A385V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like			16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		ctgctgctgGGCCTTGGCCAC	0.662000																								0							SO:0001583	missense			ENST00000252891.4	0	1	hg19	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	g	15.02	2.709666	0.48517	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.32515	1.45;1.45	4.58	3.54	0.40534	.	0.132179	0.48767	N	0.000162	T	0.19644	0.0472	N	0.19112	0.55	0.35862	D	0.82753	P;P	0.47762	0.9;0.9	B;B	0.40741	0.339;0.339	T	0.18840	-1.0324	10	0.37606	T	0.19	-10.0826	11.6372	0.51211	0.0887:0.0:0.9113:0.0	.	426;426	A8K033;Q9Y6R0	.;NUMBL_HUMAN	V	426;385	ENSP00000252891:A426V;ENSP00000442759:A385V	ENSP00000252891:A426V	A	-	2	0	NUMBL	45865766	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.327000	0.72910	1.149000	0.42402	0.543000	0.68304	GCC		TCGA-IB-7651-01A-11D-2154-08	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	0	0	1	9	37	0	8	1	9.999676e-01	9	96	0	8	2	0	0	0	1	0	0	2	1	9.965939e-01	12	36	0	7	2								-18.615850	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997760	0.990000	1	9.900000e-01	1
NUMBL	9253	broad.mit.edu	37	19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like			16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		AGACTTCACGGACTTTCGGCC	0.652000																								0							SO:0001583	missense			ENST00000252891.4	1	1	hg19	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065526	0.76187	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.20069	2.1;2.1	4.77	4.77	0.60923	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061068	0.64402	D	0.000003	T	0.25232	0.0613	N	0.11201	0.11	0.43347	D	0.995408	D;D	0.67145	0.996;0.996	P;P	0.59546	0.859;0.859	T	0.25293	-1.0136	10	0.72032	D	0.01	-30.3947	16.9155	0.86150	0.0:0.0:1.0:0.0	.	113;113	A8K033;Q9Y6R0	.;NUMBL_HUMAN	F	113;72	ENSP00000252891:S113F;ENSP00000442759:S72F	ENSP00000252891:S113F	S	-	2	0	NUMBL	45880534	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.147000	0.64851	2.346000	0.79739	0.585000	0.79938	TCC		TCGA-IB-7651-01A-11D-2154-08	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	1	0	0	14	316	0	68	1	9.902535e-01	6	169	0	68	2		0	0	0	0	0	2	1	9.997380e-01	13	311	0	66	2								-15.103610	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.520000	0.290000	1.000000	0.500000	0.566582	0.520000	0	3.900000e-01	7.200000e-01
ADCK4	79934	broad.mit.edu	37	19	41198107	41198107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41198107G>A	ENST00000324464.3	-	15	1769	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C|ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C|NUMBL_ENST00000598779.1_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4			17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		GCCAGCTTGCGGTGCAGGGCA	0.682000																								0							SO:0001583	missense			ENST00000324464.3	0	1	hg19	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872838	0.91587	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	D;D;D	0.86562	-2.14;-1.5;-1.5	5.43	3.31	0.37934	.	0.051479	0.85682	N	0.000000	D	0.94948	0.8366	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94152	0.7406	10	0.87932	D	0	-16.2832	9.2545	0.37575	0.0764:0.0:0.7776:0.146	.	490;449	Q96D53;Q96D53-2	ADCK4_HUMAN;.	C	490;449;449	ENSP00000315118:R490C;ENSP00000412839:R449C;ENSP00000243583:R449C	ENSP00000243583:R449C	R	-	1	0	ADCK4	45889947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	0.675000	0.31264	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	1	0	0	18	57	0	9	1	1	27	96	0	9	2		0	0	0	0	0	2	1	9.999919e-01	18	56	0	9	2								-15.385080	1	1	121136	3	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
ADCK4	79934	broad.mit.edu	37	19	41201931	41201931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41201931C>T	ENST00000324464.3	-	13	1473	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q|ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4			17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		CCCAAACTCCCGGCTTGCACC	0.562000																								0							SO:0001583	missense			ENST00000324464.3	1	1	hg19	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404456	0.83230	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.68025	-0.3;-0.3;-0.3	4.78	3.75	0.43078	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.85630	2.765	0.53005	D	0.999967	D;P	0.60575	0.988;0.931	P;P	0.45195	0.473;0.468	T	0.77487	-0.2569	10	0.87932	D	0	-24.933	11.8167	0.52216	0.0:0.9133:0.0:0.0867	.	391;350	Q96D53;Q96D53-2	ADCK4_HUMAN;.	Q	391;350;350	ENSP00000315118:R391Q;ENSP00000412839:R350Q;ENSP00000243583:R350Q	ENSP00000243583:R350Q	R	-	2	0	ADCK4	45893771	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	5.595000	0.67563	1.245000	0.43885	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	1	0	1	121	649	0	140	1	1	40	94	0	140	2		0	0	0	0	0	2	1	1	118	637	0	138	2								-2.330335	0	1	121412	2	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGLN2	112398	broad.mit.edu	37	19	41306816	41306816	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41306816G>T	ENST00000593726.1	+	1	1367	c.339G>T	c.(337-339)cgG>cgT	p.R113R	EGLN2_ENST00000406058.2_Silent_p.R113R|EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000303961.4_Silent_p.R113R			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2			10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	Vitamin C(DB00126)	AGGGCGCACGGCCTGAGGCCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000593726.1	0	1	hg19	CCDS12567.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1	1	0	1	11	95	0	17	1	9.988354e-01	10	99	0	17	2		0	0	0	0	0	2	1	9.984753e-01	11	93	0	17	2								-18.131390	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.670000	1.000000	1.000000	0.966401	0.990000	1	9.300000e-01	1
CYP2A7	1549	broad.mit.edu	37	19	41388043	41388043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41388043G>A	ENST00000301146.4	-	1	614	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7			27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		TTCCTCTGCTGCCAGACAGAC	0.572000																								0							SO:0001587	stop_gained			ENST00000301146.4	0	1	hg19	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	36	5.970539	0.97156	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	.	.	.	2.24	-3.48	0.04739	.	1.246510	0.05976	U	0.643226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3712	0.11249	0.1619:0.0:0.3802:0.4578	.	.	.	.	X	25	.	ENSP00000291764:Q25X	Q	-	1	0	CYP2A7	46079883	0.000000	0.05858	0.002000	0.10522	0.198000	0.23893	-0.902000	0.04088	-0.457000	0.07033	0.184000	0.17185	CAG		TCGA-IB-7651-01A-11D-2154-08	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	1	0	0	50	228	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	50	223	0	54	2								-3.327258	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2B6	1555	broad.mit.edu	37	19	41509926	41509926	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509926C>T	ENST00000324071.4	+	2	199	c.192C>T	c.(190-192)gaC>gaT	p.D64D	CYP2B6_ENST00000330446.5_Silent_p.D24D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_5'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6			28			LUSC - Lung squamous cell carcinoma(20;0.00322)	Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	AATATGGGGACGTCTTCACGG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000324071.4	0	1	hg19	CCDS12570.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	0	0	1	56	316	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	55	309	0	71	2								-20.000000	1	0	121404	6	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2B6	1555	broad.mit.edu	37	19	41509980	41509980	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509980G>T	ENST00000324071.4	+	2	253	c.246G>T	c.(244-246)gaG>gaT	p.E82D	CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6			28			LUSC - Lung squamous cell carcinoma(20;0.00322)	Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GTGGAGTAGAGGCCATACGGG	0.587000																								0							SO:0001583	missense			ENST00000324071.4	1	1	hg19	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363878	0.24684	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.69175	4.95;-0.38	4.15	-8.3	0.01005	.	0.366856	0.28409	N	0.015458	T	0.28995	0.0720	N	0.04275	-0.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.22521	-1.0214	10	0.15066	T	0.55	.	5.2272	0.15401	0.0931:0.483:0.1419:0.282	.	42;82	B4DWP3;P20813	.;CP2B6_HUMAN	D	82;42	ENSP00000324648:E82D;ENSP00000330650:E42D	ENSP00000324648:E82D	E	+	3	2	CYP2B6	46201820	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-2.960000	0.00673	-3.181000	0.00222	-0.777000	0.03380	GAG		TCGA-IB-7651-01A-11D-2154-08	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	1	0	1	99	489	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	99	477	0	105	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2B6	1555	broad.mit.edu	37	19	41518231	41518231	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41518231G>A	ENST00000324071.4	+	7	1000	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CYP2B6_ENST00000330446.5_Silent_p.V131V|CYP2B6_ENST00000593831.1_Silent_p.V95V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6			28			LUSC - Lung squamous cell carcinoma(20;0.00322)	Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TTGAACAGGTGATTGGCCCAC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000324071.4	1	1	hg19	CCDS12570.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	1	0	1	53	183	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	52	175	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CREB3L3	84699	broad.mit.edu	37	19	4153764	4153764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4153764C>T	ENST00000078445.2	+	1	167	c.20C>T	c.(19-21)gCt>gTt	p.A7V	CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3			24					GATTTAGCTGCTGGAAAGGTG	0.612000																								0							SO:0001583	missense			ENST00000078445.2	1	1	hg19	CCDS12121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.81	2.048461	0.36181	2.27E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.83591	-1.74	4.51	2.21	0.28008	.	1.054720	0.07391	N	0.889091	T	0.75781	0.3896	L	0.44542	1.39	0.21762	N	0.99955	B	0.17038	0.02	B	0.12156	0.007	T	0.58267	-0.7666	10	0.29301	T	0.29	-16.9793	6.8451	0.23984	0.0:0.7632:0.0:0.2368	.	7	Q68CJ9	CR3L3_HUMAN	V	7	ENSP00000078445:A7V	ENSP00000078445:A7V	A	+	2	0	CREB3L3	4104764	0.000000	0.05858	0.007000	0.13788	0.131000	0.20780	0.083000	0.14871	0.380000	0.24823	0.485000	0.47835	GCT		TCGA-IB-7651-01A-11D-2154-08	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	1	0	1	21	147	0	33	1	2.282398e-01	5	2	0	33	2		0	0	0	0	0	2	1	9.999978e-01	21	142	0	33	2								-20.000000	1	0	121412	2	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.960000	1.000000	1.000000	0.997093	0.990000	1	9.900000e-01	1
CYP2A13	1553	broad.mit.edu	37	19	41594992	41594992	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41594992C>A	ENST00000330436.3	+	2	339	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13			42				Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TCTTCAAAGGCTATGGTGAGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000330436.3	1	1	hg19	CCDS12571.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	1	0	1	56	271	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	55	261	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2A13	1553	broad.mit.edu	37	19	41596450	41596450	+	Missense_Mutation	SNP	C	C	T	rs144283445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41596450C>T	ENST00000330436.3	+	4	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13			42				Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TTCCAGTTCACGGCAACCTCC	0.572000																								0							SO:0001583	missense			ENST00000330436.3	1	1	hg19	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	3.541	-0.093776	0.07053	.	.	ENSG00000197838	ENST00000330436	T	0.68331	-0.32	3.66	3.66	0.41972	.	1.565340	0.03511	U	0.219623	T	0.48352	0.1495	N	0.11870	0.19	0.09310	N	1	P	0.49307	0.922	B	0.39590	0.304	T	0.44802	-0.9304	10	0.18276	T	0.48	.	9.0369	0.36293	0.0:0.7731:0.2269:0.0	.	212	Q16696	CP2AD_HUMAN	M	212	ENSP00000332679:T212M	ENSP00000332679:T212M	T	+	2	0	CYP2A13	46288290	0.000000	0.05858	0.636000	0.29352	0.155000	0.21991	0.478000	0.22212	1.871000	0.54225	0.195000	0.17529	ACG		TCGA-IB-7651-01A-11D-2154-08	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	0	0	1	74	436	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	74	423	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2A13	1553	broad.mit.edu	37	19	41601664	41601664	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41601664G>T	ENST00000330436.3	+	9	1303		c.e9-1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13			42				Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTCCTCCTCAGGAAAGCGGTA	0.577000																								0							SO:0001630	splice_region_variant			ENST00000330436.3	1	1	hg19	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	19.48	3.835690	0.71373	.	.	ENSG00000197838	ENST00000330436	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7296	0.62779	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2A13	46293504	1.000000	0.71417	0.979000	0.43373	0.915000	0.54546	9.187000	0.94912	2.229000	0.72834	0.574000	0.79327	.		TCGA-IB-7651-01A-11D-2154-08	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	1	0	0	87	441	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	87	425	0	93	2								-2.851091	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2F1	1572	broad.mit.edu	37	19	41626311	41626311	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41626311C>A	ENST00000331105.2	+	4	466	c.394C>A	c.(394-396)Cta>Ata	p.L132I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1			29					TATCCAGATTCTACGGAATTT	0.547000																								0							SO:0001583	missense			ENST00000331105.2	1	1	hg19	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515704	0.44763	.	.	ENSG00000197446	ENST00000331105	T	0.16073	2.37	4.25	4.25	0.50352	.	0.000000	0.64402	U	0.000003	T	0.42471	0.1204	M	0.86420	2.815	0.47374	D	0.999403	D;P	0.53619	0.961;0.897	D;P	0.64776	0.929;0.882	T	0.44982	-0.9292	10	0.87932	D	0	.	10.1017	0.42509	0.0:0.9003:0.0:0.0997	.	132;132	Q32MN5;P24903	.;CP2F1_HUMAN	I	132	ENSP00000333534:L132I	ENSP00000333534:L132I	L	+	1	2	CYP2F1	46318151	0.872000	0.30054	0.787000	0.31911	0.101000	0.19017	1.741000	0.38238	2.239000	0.73571	0.562000	0.76482	CTA		TCGA-IB-7651-01A-11D-2154-08	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2	1	0	1	124	540	0	126	0	3.545525e-02	1	1	0	126	2		0	0	0	0	0	2	1	1	117	529	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2S1	29785	broad.mit.edu	37	19	41704369	41704369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704369C>T	ENST00000310054.4	+	4	712	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1			14					CCCCCCAGGACGCCCATTCGA	0.627000																								0							SO:0001583	missense			ENST00000310054.4	1	1	hg19	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.210337	0.39003	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.69175	-0.38	5.14	-0.331	0.12679	.	2.019370	0.02308	N	0.071858	T	0.72795	0.3505	M	0.82056	2.57	0.09310	N	1	D	0.57571	0.98	P	0.48227	0.571	T	0.58719	-0.7587	10	0.66056	D	0.02	.	6.1916	0.20528	0.2612:0.568:0.0:0.1708	.	166	Q96SQ9	CP2S1_HUMAN	C	166	ENSP00000308032:R166C	ENSP00000301173:R166C	R	+	1	0	CYP2S1	46396209	0.000000	0.05858	0.095000	0.20976	0.397000	0.30659	-0.565000	0.05929	0.158000	0.19367	0.306000	0.20318	CGC		TCGA-IB-7651-01A-11D-2154-08	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1	1	0	1	131	690	0	159	1	1	249	296	0	159	2		0	0	0	0	0	2	1	1	128	656	0	156	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2S1	29785	broad.mit.edu	37	19	41704625	41704625	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704625G>A	ENST00000310054.4	+	5	882	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1			14					CCTACGAGATGTTCTCCTGGT	0.627000																								0							SO:0001583	missense			ENST00000310054.4	1	1	hg19	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	11.61	1.689696	0.29962	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.01240	5.12	5.19	5.19	0.71726	.	0.210189	0.41001	U	0.000962	T	0.01254	0.0041	N	0.25647	0.755	0.80722	D	1	B	0.29909	0.261	B	0.26517	0.07	T	0.65919	-0.6051	10	0.17369	T	0.5	.	9.7964	0.40737	0.0946:0.0:0.9054:0.0	.	222	Q96SQ9	CP2S1_HUMAN	I	222	ENSP00000308032:M222I	ENSP00000301173:M222I	M	+	3	0	CYP2S1	46396465	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	1.774000	0.38573	2.419000	0.82065	0.461000	0.40582	ATG		TCGA-IB-7651-01A-11D-2154-08	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1	1	0	1	28	616	0	107	1	9.999958e-01	51	374	0	107	2		0	0	0	0	0	2	1	1	28	608	0	107	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.520000	0.350000	1.000000	0.510000	0.566907	0.520000	0	4.300000e-01	6.600000e-01
AXL	558	broad.mit.edu	37	19	41726619	41726619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726619G>A	ENST00000301178.4	+	2	354	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	AXL_ENST00000359092.3_Missense_Mutation_p.R55Q|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase			48					GGCACCCTTCGGTGTCAGCTC	0.637000																								0							SO:0001583	missense			ENST00000301178.4	0	1	hg19	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026763	0.35797	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.64991	-0.13;-0.13	4.47	0.619	0.17630	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547984	0.15876	N	0.240296	T	0.46444	0.1393	L	0.38531	1.155	0.29834	N	0.829806	B;B	0.19445	0.029;0.036	B;B	0.08055	0.002;0.003	T	0.39603	-0.9606	10	0.49607	T	0.09	-7.5574	6.9495	0.24538	0.3347:0.0:0.6653:0.0	.	55;55	P30530-2;P30530	.;UFO_HUMAN	Q	55	ENSP00000301178:R55Q;ENSP00000351995:R55Q	ENSP00000301178:R55Q	R	+	2	0	AXL	46418459	0.308000	0.24509	0.993000	0.49108	0.743000	0.42351	0.693000	0.25497	0.063000	0.16370	0.175000	0.17021	CGG		TCGA-IB-7651-01A-11D-2154-08	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	0	32	97	0	38	1	1	3	94	0	38	2		0	0	0	0	0	2	1	1	32	91	0	38	2								-20.000000	1	0	121406	6	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AXL	558	broad.mit.edu	37	19	41726632	41726632	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726632G>T	ENST00000301178.4	+	2	367	c.177G>T	c.(175-177)caG>caT	p.Q59H	AXL_ENST00000359092.3_Missense_Mutation_p.Q59H|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase			48					GTCAGCTCCAGGTTCAGGGAG	0.642000																								0							SO:0001583	missense			ENST00000301178.4	1	1	hg19	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931823	0.34096	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.65178	-0.14;-0.14	4.59	1.04	0.20106	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.718192	0.12273	N	0.483641	T	0.48095	0.1481	L	0.49455	1.56	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.44128	-0.9348	10	0.49607	T	0.09	-1.9767	0.835	0.01138	0.2185:0.187:0.4017:0.1928	.	59;59	P30530-2;P30530	.;UFO_HUMAN	H	59	ENSP00000301178:Q59H;ENSP00000351995:Q59H	ENSP00000301178:Q59H	Q	+	3	2	AXL	46418472	0.998000	0.40836	0.959000	0.39883	0.795000	0.44927	1.722000	0.38042	0.544000	0.28883	0.386000	0.25728	CAG		TCGA-IB-7651-01A-11D-2154-08	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	0	27	127	0	39	0	9.999746e-01	1	83	0	39	2		0	0	0	0	0	2	1	1	27	121	0	39	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
AXL	558	broad.mit.edu	37	19	41748838	41748838	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41748838C>A	ENST00000301178.4	+	11	1553	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	AXL_ENST00000359092.3_Missense_Mutation_p.L446I|AXL_ENST00000593513.1_Missense_Mutation_p.L187I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase			48					GTATGTACTGCTAGGAGCAGT	0.552000																								0							SO:0001583	missense			ENST00000301178.4	1	1	hg19	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.283015	0.40394	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75154	-0.91;-0.83	4.49	3.45	0.39498	.	0.074392	0.56097	D	0.000040	T	0.62183	0.2407	L	0.55990	1.75	0.35301	D	0.783036	P;P	0.38395	0.629;0.495	B;B	0.32805	0.153;0.073	T	0.65084	-0.6254	10	0.25751	T	0.34	-12.7963	7.5165	0.27604	0.1645:0.7444:0.0:0.0912	.	446;455	P30530-2;P30530	.;UFO_HUMAN	I	455;446	ENSP00000301178:L455I;ENSP00000351995:L446I	ENSP00000301178:L455I	L	+	1	2	AXL	46440678	0.995000	0.38212	1.000000	0.80357	0.884000	0.51177	1.972000	0.40540	0.995000	0.38917	0.650000	0.86243	CTA		TCGA-IB-7651-01A-11D-2154-08	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	1	98	400	0	97	1	1	2	194	0	97	2		0	0	0	0	0	2	1	1	95	395	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AXL	558	broad.mit.edu	37	19	41765518	41765518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41765518G>A	ENST00000301178.4	+	20	2584	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	AXL_ENST00000359092.3_Silent_p.E789E|AXL_ENST00000593513.1_Silent_p.E530E|HNRNPUL1_ENST00000595018.1_5'Flank|HNRNPUL1_ENST00000352456.3_5'Flank	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase			48					GTTTTACAGAGCTGCGGGAAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000301178.4	1	1	hg19	CCDS12575.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2	1	0	1	51	238	0	74	1	1	3	365	0	74	2		0	0	0	0	0	2	1	1	51	235	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPUL1	11100	broad.mit.edu	37	19	41807498	41807498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41807498C>T	ENST00000392006.3	+	11	1749	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1			29					AGGCTTCCAGCGCAAAGCTAT	0.458000																								0							SO:0001583	missense			ENST00000392006.3	1	1	hg19	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969155	0.92855	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.06	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.985;0.995;1.0;0.989;0.995;0.994	T	0.74383	-0.3683	10	0.87932	D	0	-15.4825	15.8696	0.79101	0.1364:0.8636:0.0:0.0	.	437;426;526;412;526;426	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	C	426;526;412;437	ENSP00000340857:R426C;ENSP00000375863:R526C;ENSP00000367460:R412C;ENSP00000263367:R437C	ENSP00000263367:R437C	R	+	1	0	HNRNPUL1	46499338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.025000	0.70864	1.547000	0.49401	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	1	0	1	135	489	0	131	1	1	111	512	0	131	2		0	0	0	0	0	2	1	1	133	481	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGFB1	7040	broad.mit.edu	37	19	41854288	41854288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41854288G>A	ENST00000221930.5	-	2	1294	c.428C>T	c.(427-429)gCg>gTg	p.A143V	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1			8				Hyaluronidase(DB00070)	TTCAGGTACCGCTTCTCGGAG	0.507000																								0							SO:0001583	missense			ENST00000221930.5	1	1	hg19	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608131	0.28623	.	.	ENSG00000105329	ENST00000221930	T	0.72394	-0.65	4.84	4.84	0.62591	Transforming growth factor-beta, N-terminal (1);	0.165870	0.53938	D	0.000058	T	0.50820	0.1638	L	0.41710	1.295	0.39365	D	0.965985	D	0.53151	0.958	B	0.27796	0.083	T	0.56691	-0.7937	10	0.15952	T	0.53	-15.2657	13.313	0.60390	0.0:0.0:1.0:0.0	.	143	P01137	TGFB1_HUMAN	V	143	ENSP00000221930:A143V	ENSP00000221930:A143V	A	-	2	0	TGFB1	46546128	0.929000	0.31497	0.953000	0.39169	0.286000	0.27126	1.795000	0.38784	2.513000	0.84729	0.455000	0.32223	GCG		TCGA-IB-7651-01A-11D-2154-08	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2	1	0	1	160	630	0	162	1	1	12	416	0	162	2		0	0	0	0	0	2	1	1	157	619	0	161	2								-20.000000	1	1	121412	1	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B9D2	80776	broad.mit.edu	37	19	41860620	41860620	+	Silent	SNP	G	G	A	rs143680317	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41860620G>A	ENST00000243578.3	-	4	732	c.513C>T	c.(511-513)taC>taT	p.Y171Y	TGFB1_ENST00000221930.5_5'Flank|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2			2					ACTCCACGCCGTAGCGGTCGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000243578.3	1	1	hg19	CCDS12579.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	0	0	1	41	256	0	51	1	9.970156e-01	21	37	0	51	2		0	0	0	0	0	2	1	1	41	247	0	49	2								-18.705810	1	1	121404	52	47	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
EXOSC5	56915	broad.mit.edu	37	19	41892608	41892608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41892608G>A	ENST00000221233.4	-	6	788	c.638C>T	c.(637-639)gCc>gTc	p.A213V	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V|CTC-435M10.3_ENST00000604424.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5			7					AGCGGCCTGGGCCGCAGCCAG	0.652000																								0							SO:0001583	missense			ENST00000221233.4	0	1	hg19	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677115	0.88445	.	.	ENSG00000077348	ENST00000221233	T	0.62788	0.0	5.08	5.08	0.68730	Exoribonuclease, phosphorolytic domain 2 (2);	0.106321	0.64402	D	0.000005	T	0.76673	0.4020	M	0.76328	2.33	0.47778	D	0.999518	D	0.76494	0.999	P	0.62740	0.906	T	0.77755	-0.2469	10	0.49607	T	0.09	-27.7716	16.008	0.80377	0.0:0.0:1.0:0.0	.	213	Q9NQT4	EXOS5_HUMAN	V	213	ENSP00000221233:A213V	ENSP00000221233:A213V	A	-	2	0	EXOSC5	46584448	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	4.673000	0.61604	2.623000	0.88846	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	0	0	1	5	56	0	9	1	9.950086e-01	45	87	0	9	2		0	0	0	0	0	2	1	9.318930e-01	5	53	0	9	2								-10.325900	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.400000	1.000000	1.000000	0.876379	0.990000	1	6.600000e-01	1
ANKRD24	170961	broad.mit.edu	37	19	4199913	4199913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4199913C>T	ENST00000600132.1	+	4	441	c.165C>T	c.(163-165)gcC>gcT	p.A55A	ANKRD24_ENST00000318934.4_Silent_p.A55A|ANKRD24_ENST00000262970.5_Silent_p.A145A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24			21					TGCTACAAGCCGTGGAAAACA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000600132.1	0	1	hg19	CCDS45925.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	0	0	0	7	29	0	9	0	2.880701e-01	1	4	0	9	2		0	0	0	0	0	2	1	9.826621e-01	6	29	0	9	2								-15.508740	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.930000	1.000000	1.000000	0.994719	0.990000	1	9.900000e-01	1
ANKRD24	170961	broad.mit.edu	37	19	4202024	4202024	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4202024T>C	ENST00000600132.1	+	6	621	c.345T>C	c.(343-345)ggT>ggC	p.G115G	ANKRD24_ENST00000318934.4_Splice_Site_p.G115G|ANKRD24_ENST00000262970.5_Splice_Site_p.G205G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24			21					CTTCCCCAGGTTACAATGCCC	0.512000																								0							SO:0001630	splice_region_variant			ENST00000600132.1	1	0	hg19	CCDS45925.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	1	0	0	47	391	0	87	0	2.983611e-01	1	9	0	87	2		0	0	0	0	0	2	1	1	47	381	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.950000	1.000000	1.000000	0.997489	0.990000	1	9.900000e-01	1
CEACAM21	90273	broad.mit.edu	37	19	42083774	42083774	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42083774G>T	ENST00000401445.2	+	2	313	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S96I|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21			13					CCTGCATACAGCGGTCGAGAG	0.493000																								0							SO:0001583	missense			ENST00000401445.2	1	1	hg19	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936009	0.34189	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.69806	-0.43;-0.43	1.84	-0.702	0.11265	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83478	0.5263	H	0.96889	3.9	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.76575	0.979;0.988	T	0.69562	-0.5112	9	0.87932	D	0	.	3.1705	0.06550	0.1868:0.2804:0.5328:0.0	.	96;96	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	I	96	ENSP00000187608:S96I;ENSP00000385739:S96I	ENSP00000187608:S96I	S	+	2	0	CEACAM21	46775614	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-0.462000	0.06704	-0.054000	0.13266	0.123000	0.15791	AGC		TCGA-IB-7651-01A-11D-2154-08	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	1	0	1	43	259	0	77	0	7.489198e-01	0	18	0	77	2		0	0	0	0	0	2	1	1	43	255	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
CEACAM4	1089	broad.mit.edu	37	19	42132106	42132106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42132106C>T	ENST00000221954.2	-	2	403	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4			16					TACTGTCTCTCGACCACTGTA	0.493000																								0							SO:0001583	missense			ENST00000221954.2	1	1	hg19	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647691	0.47258	.	.	ENSG00000105352	ENST00000221954	T	0.72282	-0.64	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84506	0.5487	M	0.90870	3.155	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.968	T	0.70339	-0.4899	9	0.72032	D	0.01	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	98;98	E7EMX3;O75871	.;CEAM4_HUMAN	Q	98	ENSP00000221954:R98Q	ENSP00000221954:R98Q	R	-	2	0	CEACAM4	46823946	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	0.162000	0.16501	1.281000	0.44480	0.205000	0.17691	CGA		TCGA-IB-7651-01A-11D-2154-08	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	1	0	1	167	755	0	187	0	8.138455e-01	0	16	0	187	2		0	0	0	0	0	2	1	1	162	735	0	187	2								-2.842381	1	1	121412	1	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD24	170961	broad.mit.edu	37	19	4216663	4216663	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4216663G>T	ENST00000600132.1	+	18	1782	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q502H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q592H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24			21					TACGCAGGCAGCACGCTGAGG	0.622000																								0							SO:0001583	missense			ENST00000600132.1	0	1	hg19	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.944226	0.53079	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.38560	1.13;1.16	4.6	2.39	0.29439	.	0.549841	0.13688	N	0.369707	T	0.36744	0.0978	L	0.27053	0.805	0.27072	N	0.963292	D;B	0.56968	0.978;0.392	P;B	0.52267	0.694;0.091	T	0.13845	-1.0494	10	0.27082	T	0.32	-15.3871	8.5402	0.33388	0.1894:0.0:0.8106:0.0	.	502;592	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	H	502;592	ENSP00000321731:Q502H;ENSP00000262970:Q592H	ENSP00000262970:Q592H	Q	+	3	2	ANKRD24	4167663	0.998000	0.40836	0.967000	0.41034	0.887000	0.51463	1.040000	0.30278	0.471000	0.27319	0.313000	0.20887	CAG		TCGA-IB-7651-01A-11D-2154-08	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	1	0	1	11	52	0	13	1	6.108762e-01	4	7	0	13	2		0	0	0	0	0	2	1	9.984680e-01	10	50	0	13	2								-19.955150	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998153	0.990000	1	9.900000e-01	1
CEACAM7	1087	broad.mit.edu	37	19	42192088	42192088	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42192088A>G	ENST00000006724.3	-	1	208	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P|CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000599715.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7			18					GCTGAAGGGGACCCCATGGTC	0.607000																								0							SO:0001583	missense			ENST00000006724.3	1	1	hg19	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.095813	0.00364	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.13538	2.58;2.58;5.32	1.67	0.317	0.15861	.	.	.	.	.	T	0.02767	0.0083	N	0.00765	-1.205	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.44065	-0.9352	9	0.02654	T	1	.	4.1531	0.10247	0.2321:0.0:0.7679:0.0	.	3;3	Q14002-2;Q14002	.;CEAM7_HUMAN	P	3	ENSP00000006724:S3P;ENSP00000385932:S3P;ENSP00000343286:S3P	ENSP00000006724:S3P	S	-	1	0	CEACAM7	46883928	0.000000	0.05858	0.257000	0.24404	0.035000	0.12851	-1.106000	0.03319	0.234000	0.21139	-0.756000	0.03474	TCC		TCGA-IB-7651-01A-11D-2154-08	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	1	0	1	48	229	0	51	1	8.166269e-01	2	15	0	51	2		0	0	0	0	0	2	1	1	48	222	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM5	1048	broad.mit.edu	37	19	42219576	42219576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42219576G>A	ENST00000221992.6	+	4	825	c.711G>A	c.(709-711)ccG>ccA	p.P237P	CEACAM5_ENST00000405816.1_Silent_p.P237P|CEACAM5_ENST00000398599.4_Silent_p.P237P|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5			34					CAGATGGCCCGGATGCCCCCA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000221992.6	1	1	hg19	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	0.155	-1.087253	0.01873	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.18	-0.947	0.10382	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	2.7144	0.05183	0.2758:0.0:0.5037:0.2205	.	.	.	.	R	234	.	.	G	+	1	0	CEACAM5	46911416	0.000000	0.05858	0.695000	0.30226	0.048000	0.14542	-2.052000	0.01401	0.046000	0.15833	-0.680000	0.03767	GGA		TCGA-IB-7651-01A-11D-2154-08	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	1	0	1	69	300	0	93	1	9.999998e-01	25	74	0	93	2		0	0	0	0	0	2	1	1	68	290	0	93	2								-2.703151	1	1	121412	6	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM5	1048	broad.mit.edu	37	19	42222194	42222194	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42222194T>A	ENST00000221992.6	+	6	1499	c.1385T>A	c.(1384-1386)cTc>cAc	p.L462H	CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L461H|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5			34					ACACAAGAGCTCTTTATCTCC	0.517000																								0							SO:0001583	missense			ENST00000221992.6	1	1	hg19	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.367673	0.42003	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	D;D	0.89415	-2.51;-2.51	2.39	2.39	0.29439	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96599	0.8890	H	0.99863	4.86	0.19300	N	0.999978	P;D	0.76494	0.921;0.999	D;D	0.74674	0.936;0.984	D	0.87983	0.2744	9	0.87932	D	0	.	6.7185	0.23316	0.0:0.0:0.0:1.0	.	462;462	P06731;Q53G30	CEAM5_HUMAN;.	H	462;462;180	ENSP00000221992:L462H;ENSP00000385072:L462H	ENSP00000221992:L462H	L	+	2	0	CEACAM5	46914034	0.022000	0.18835	0.433000	0.26760	0.046000	0.14306	1.093000	0.30939	1.361000	0.45981	0.433000	0.28618	CTC		TCGA-IB-7651-01A-11D-2154-08	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	1	0	1	90	358	0	103	1	1	62	85	0	103	2		0	0	0	0	0	2	1	1	88	347	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM5	1048	broad.mit.edu	37	19	42223929	42223929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42223929C>T	ENST00000221992.6	+	7	1687	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5			34					CACCTGTGAACCTGAGGCTCA	0.567000																								0							SO:0001583	missense			ENST00000221992.6	1	1	hg19	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.682|4.682	0.126783|0.126783	0.08931|0.08931	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.02446|.	4.29;4.29|.	2.53|2.53	0.1|0.1	0.14510|0.14510	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.32615|0.32615	0.0835|0.0835	L|L	0.37800|0.37800	1.135|1.135	0.09310|0.09310	N|N	1|1	B;B|.	0.27700|.	0.032;0.186|.	B;B|.	0.35073|.	0.108;0.195|.	T|T	0.28650|0.28650	-1.0037|-1.0037	9|5	0.44086|.	T|.	0.13|.	.|.	6.8499|6.8499	0.24008|0.24008	0.5356:0.4644:0.0:0.0|0.5356:0.4644:0.0:0.0	.|.	525;525|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	S|I	525;525;243|520	ENSP00000221992:P525S;ENSP00000385072:P525S|.	ENSP00000221992:P525S|.	P|T	+|+	1|2	0|0	CEACAM5|CEACAM5	46915769|46915769	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.072000|0.072000	0.16883|0.16883	-4.237000|-4.237000	0.00268|0.00268	0.076000|0.076000	0.16826|0.16826	0.404000|0.404000	0.27445|0.27445	CCT|ACC		TCGA-IB-7651-01A-11D-2154-08	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	1	0	1	131	682	0	208	1	9.999995e-01	51	54	0	208	2		0	0	0	0	0	2	1	1	129	669	0	211	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM6	4680	broad.mit.edu	37	19	42260853	42260853	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42260853A>G	ENST00000199764.6	+	2	628	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)			18					GCAACCGGACAGTTCCATGTA	0.488000																								0							SO:0001583	missense			ENST00000199764.6	1	1	hg19	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	A	1.897	-0.454152	0.04540	.	.	ENSG00000086548	ENST00000199764	T	0.64991	-0.13	2.15	-0.616	0.11583	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52613	0.1745	L	0.60067	1.865	0.09310	N	1	B	0.02656	0.0	B	0.15052	0.012	T	0.35525	-0.9785	9	0.30854	T	0.27	.	6.975	0.24670	0.7167:0.0:0.2833:0.0	.	137	P40199	CEAM6_HUMAN	R	137	ENSP00000199764:Q137R	ENSP00000199764:Q137R	Q	+	2	0	CEACAM6	46952693	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.716000	0.25836	-1.127000	0.02925	-1.889000	0.00537	CAG		TCGA-IB-7651-01A-11D-2154-08	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1	1	0	1	256	1223	0	374	1	1	373	430	0	374	2		0	0	0	0	0	2	1	1	254	1193	0	368	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM6	4680	broad.mit.edu	37	19	42266125	42266125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42266125G>T	ENST00000199764.6	+	4	1170	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)			18					GATGATCACAGTCTCTGGTAA	0.468000																								0							SO:0001583	missense			ENST00000199764.6	1	1	hg19	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249697	0.39797	.	.	ENSG00000086548	ENST00000199764	T	0.35789	1.29	2.15	-0.101	0.13618	Immunoglobulin-like fold (1);	.	.	.	.	T	0.66086	0.2754	H	0.97291	3.975	0.09310	N	1	D	0.69078	0.997	D	0.74023	0.982	T	0.53107	-0.8485	9	0.87932	D	0	.	3.8949	0.09135	0.425:0.0:0.575:0.0	.	318	P40199	CEAM6_HUMAN	F	318	ENSP00000199764:V318F	ENSP00000199764:V318F	V	+	1	0	CEACAM6	46957965	0.693000	0.27728	0.076000	0.20297	0.244000	0.25665	1.830000	0.39131	0.229000	0.21039	0.305000	0.20034	GTC		TCGA-IB-7651-01A-11D-2154-08	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1	1	0	1	52	227	0	66	1	1	677	715	0	66	2		0	0	0	0	0	2	1	1	51	220	0	65	2								-3.476417	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM3	1084	broad.mit.edu	37	19	42301583	42301583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301583C>T	ENST00000357396.3	+	2	368	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3			19					ATCCATGCCGCTCAGTGTCGC	0.517000																								0							SO:0001583	missense			ENST00000357396.3	1	1	hg19	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	T	4.731	0.136010	0.09032	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.68903	-0.36;-0.36;-0.36	3.44	-6.21	0.02065	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23171	0.0560	N	0.00446	-1.495	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28396	-1.0045	9	0.14656	T	0.56	.	5.5198	0.16925	0.1327:0.5783:0.1335:0.1555	.	43;43	G5E978;P40198	.;CEAM3_HUMAN	F	43	ENSP00000349971:L43F;ENSP00000221999:L43F;ENSP00000341725:L43F	ENSP00000221999:L43F	L	+	1	0	CEACAM3	46993423	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.016000	0.00313	-2.027000	0.00932	-0.439000	0.05793	CTC		TCGA-IB-7651-01A-11D-2154-08	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	1	0	1	177	751	0	196	1	3.992663e-01	3	4	0	196	2		0	0	0	0	0	2	1	1	172	733	0	195	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM3	1084	broad.mit.edu	37	19	42301744	42301744	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301744C>T	ENST00000357396.3	+	2	529	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM3_ENST00000344550.4_Silent_p.S96S|CEACAM3_ENST00000221999.4_Silent_p.S96S|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3			19					CCGCATACAGCGGTCGAGAGA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000357396.3	1	1	hg19	CCDS12586.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	1	0	1	142	1043	0	273	0	4.018159e-02	0	3	0	273	2		0	0	0	0	0	2	1	1	134	1014	0	272	2								-20.000000	1	1	121390	4	43	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYPD4	147719	broad.mit.edu	37	19	42342046	42342046	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342046A>T	ENST00000330743.3	-	4	1712	c.501T>A	c.(499-501)gcT>gcA	p.A167A	LYPD4_ENST00000601246.1_Silent_p.A132A|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.A132A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4			12					AACACGTAGAAGCAGCCAAGG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000330743.3	1	1	hg19	CCDS12587.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	1	0	0	11	204	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	9.981999e-01	11	198	0	42	2								-14.038540	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.640000	0.330000	1.000000	1.000000	0.667826	0.640000	0	4.600000e-01	9.000000e-01
LYPD4	147719	broad.mit.edu	37	19	42342146	42342146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342146G>T	ENST00000330743.3	-	4	1612	c.401C>A	c.(400-402)tCt>tAt	p.S134Y	LYPD4_ENST00000601246.1_Missense_Mutation_p.S99Y|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Missense_Mutation_p.S99Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4			12					AGATGTGATAGACTTAGGAGT	0.522000																								0							SO:0001583	missense			ENST00000330743.3	0	1	hg19	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	g	9.947	1.219168	0.22373	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.13420	3.23;2.59	4.13	3.1	0.35709	.	1.222090	0.05821	N	0.615812	T	0.17450	0.0419	L	0.51422	1.61	0.09310	N	1	P;P	0.39782	0.688;0.561	B;B	0.40659	0.336;0.181	T	0.26189	-1.0110	10	0.62326	D	0.03	-5.1335	7.9833	0.30196	0.1108:0.0:0.8892:0.0	.	99;134	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	Y	134;99	ENSP00000328737:S134Y;ENSP00000339568:S99Y	ENSP00000328737:S134Y	S	-	2	0	LYPD4	47033986	0.005000	0.15991	0.002000	0.10522	0.017000	0.09413	1.495000	0.35627	1.349000	0.45751	-0.389000	0.06534	TCT		TCGA-IB-7651-01A-11D-2154-08	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	0	0	0	14	348	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	9.997221e-01	14	339	0	74	2								-14.691660	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.480000	0.270000	1.000000	0.460000	0.524504	0.480000	0	3.600000e-01	6.600000e-01
LYPD4	147719	broad.mit.edu	37	19	42342983	42342983	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342983G>A	ENST00000330743.3	-	3	1394	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LYPD4_ENST00000601246.1_Intron|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4			12					GCGTCTCCTCGCAGCCCTCTT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000330743.3	1	1	hg19	CCDS12587.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	1	0	0	132	500	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	129	494	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYPD4	147719	broad.mit.edu	37	19	42343377	42343377	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42343377C>A	ENST00000330743.3	-	0	1194				LYPD4_ENST00000601246.1_De_novo_Start_OutOfFrame|LYPD4_ENST00000343055.4_5'Flank	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4			12					TGTCTGGGTCCTGGGTGCTAG	0.562000																								0											ENST00000330743.3	0	1	hg19	CCDS12587.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	0	0	0	65	279	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	65	272	0	58	2								-3.487945	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMRTC2	63946	broad.mit.edu	37	19	42352907	42352907	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42352907G>A	ENST00000269945.3	+	5	543	c.492G>A	c.(490-492)tcG>tcA	p.S164S	DMRTC2_ENST00000596827.1_Silent_p.S164S	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2			10					CGGAAGCCTCGCCCTTGTCCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000269945.3	1	1	hg19	CCDS33034.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	1	0	1	290	630	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	1	285	613	0	142	2								-20.000000	1	1	121412	8	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF1	9138	broad.mit.edu	37	19	42396876	42396876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42396876G>T	ENST00000354532.3	+	7	718	c.570G>T	c.(568-570)gaG>gaT	p.E190D	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E190D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1			37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)			AGGCCCGGGAGCGGCACGTGG	0.701000																								0							SO:0001583	missense			ENST00000354532.3	1	1	hg19	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641038	0.67244	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.32	-0.579	0.11720	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.139750	0.45126	N	0.000394	D	0.90456	0.7011	M	0.76838	2.35	0.36530	D	0.870656	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.998;0.999	D;D;D;D;D	0.83275	0.996;0.99;0.987;0.954;0.994	D	0.87937	0.2714	10	0.52906	T	0.07	-23.3088	5.5374	0.17020	0.2854:0.1504:0.5642:0.0	.	172;205;157;190;250	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	D	190;157;226;205;172	ENSP00000346532:E190D;ENSP00000344429:E157D;ENSP00000337261:E205D;ENSP00000367394:E172D	ENSP00000323044:E226D	E	+	3	2	ARHGEF1	47088716	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	1.784000	0.38674	0.059000	0.16252	0.306000	0.20318	GAG		TCGA-IB-7651-01A-11D-2154-08	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	1	0	1	28	100	0	15	1	1	38	108	0	15	2		0	0	0	0	0	2	1	1	27	96	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF1	9138	broad.mit.edu	37	19	42406492	42406492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42406492G>A	ENST00000354532.3	+	16	1631	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.V551M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1			37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)			GATCGGAGACGTGCTGCTGGC	0.647000																								0							SO:0001583	missense			ENST00000354532.3	1	1	hg19	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108719	0.56291	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.25	4.25	0.50352	Dbl homology (DH) domain (5);	0.250049	0.33272	N	0.005081	T	0.69726	0.3143	L	0.31294	0.92	0.31883	N	0.618257	P;D;D;D;P	0.89917	0.661;1.0;1.0;1.0;0.796	B;D;D;D;B	0.76575	0.387;0.973;0.97;0.988;0.31	T	0.72427	-0.4297	10	0.46703	T	0.11	-27.5557	10.6247	0.45500	0.0:0.1961:0.8039:0.0	.	154;477;510;462;495	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	M	495;462;510;477	ENSP00000346532:V495M;ENSP00000344429:V462M;ENSP00000337261:V510M;ENSP00000367394:V477M	ENSP00000337261:V510M	V	+	1	0	ARHGEF1	47098332	0.001000	0.12720	0.999000	0.59377	0.924000	0.55760	0.553000	0.23391	2.090000	0.63153	0.456000	0.33151	GTG		TCGA-IB-7651-01A-11D-2154-08	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	1	0	1	53	279	0	70	1	1	65	166	0	70	2		0	0	0	0	0	2	1	1	53	275	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP1A3	478	broad.mit.edu	37	19	42482344	42482344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42482344C>T	ENST00000302102.5	-	13	1915	c.1765G>A	c.(1765-1767)Gtc>Atc	p.V589I	ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V602I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide			52					GCGTCAGGGACGGCTGCCCGG	0.652000																								0							SO:0001583	missense			ENST00000302102.5	1	1	hg19	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167298	0.94768	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	T;D;T;T	0.96168	-1.36;-3.93;-1.36;-1.36	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.997;0.987	D;P;P;P	0.76575	0.988;0.582;0.829;0.706	D	0.98091	1.0409	10	0.87932	D	0	.	14.9849	0.71339	0.0:1.0:0.0:0.0	.	602;600;589;589	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	589;589;602;559;333;600	ENSP00000302397:V589I;ENSP00000411503:V589I;ENSP00000444688:V602I;ENSP00000437577:V600I	ENSP00000302397:V589I	V	-	1	0	ATP1A3	47174184	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.554000	0.82212	2.478000	0.83669	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	1	0	1	49	228	0	35	0	2.217730e-01	0	5	0	35	2		0	0	0	0	0	2	1	1	49	222	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIK5	2901	broad.mit.edu	37	19	42546761	42546761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42546761G>A	ENST00000262895.3	-	11	1415	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	GRIK5_ENST00000301218.4_Silent_p.Y472Y|GRIK5_ENST00000593562.1_Silent_p.Y472Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5			35		Prostate(69;0.059)			CGGGCGCCCCGTACAGCCCAT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000262895.3	1	1	hg19	CCDS12595.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1	1	0	0	88	428	0	76	0	2.061734e-01	0	5	0	76	2		0	0	0	0	0	2	1	1	85	419	0	75	2								-20.000000	1	1	121276	3	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF574	64763	broad.mit.edu	37	19	42583614	42583614	+	Missense_Mutation	SNP	C	C	T	rs148844955		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42583614C>T	ENST00000600245.1	+	2	1511	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W			Q6ZN55	ZN574_HUMAN	zinc finger protein 574			20		Prostate(69;0.059)			AGCCATTGGGCGGGATCGCCG	0.637000																								0							SO:0001583	missense			ENST00000600245.1	1	1	hg19	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079695	0.55753	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.07327	3.2;3.25	4.96	3.91	0.45181	.	0.323021	0.21335	N	0.076227	T	0.11281	0.0275	N	0.08118	0	0.28114	N	0.930871	D;D	0.89917	0.999;1.0	P;D	0.70935	0.877;0.971	T	0.17501	-1.0367	10	0.35671	T	0.21	-13.0784	11.9409	0.52901	0.3142:0.6858:0.0:0.0	.	286;375	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	W	376;286	ENSP00000222339:R376W;ENSP00000351939:R286W	ENSP00000222339:R376W	R	+	1	2	ZNF574	47275454	0.000000	0.05858	0.730000	0.30809	0.922000	0.55478	0.114000	0.15520	1.258000	0.44101	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	1	0	1	114	469	0	69	1	9.987531e-01	14	29	0	69	2		0	0	0	0	0	2	1	1	112	460	0	67	2								-20.000000	1	1	121408	1	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF574	64763	broad.mit.edu	37	19	42585038	42585038	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585038C>T	ENST00000600245.1	+	2	2935	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	ZNF574_ENST00000359044.4_Silent_p.H760H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.H850H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574			20		Prostate(69;0.059)			GGCGCATCCACACAGGTGAGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000600245.1	1	1	hg19	CCDS12596.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	1	0	1	216	1073	0	210	1	9.997772e-01	17	44	0	210	2		0	0	0	0	0	2	1	1	213	1061	0	206	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF574	64763	broad.mit.edu	37	19	42585196	42585196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585196G>A	ENST00000600245.1	+	2	3093	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574			20		Prostate(69;0.059)			GCAGAACATCGCCGCATCCAC	0.612000																								0							SO:0001583	missense			ENST00000600245.1	1	1	hg19	CCDS12596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.936183|2.936183	0.52972|0.52972	.|.	.|.	ENSG00000105732|ENSG00000105732	ENST00000535775|ENST00000222339;ENST00000359044	.|T;T	.|0.07688	.|3.17;3.17	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.077728	.|0.49305	.|D	.|0.000142	T|T	0.15176|0.15176	0.0366|0.0366	L|L	0.31845|0.31845	0.965|0.965	0.34860|0.34860	D|D	0.742544|0.742544	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.957;0.982	T|T	0.07908|0.07908	-1.0748|-1.0748	6|10	0.72032|0.48119	D|T	0.01|0.1	-21.3264|-21.3264	7.1979|7.1979	0.25864|0.25864	0.1825:0.0:0.8175:0.0|0.1825:0.0:0.8175:0.0	.|.	.|813;902	.|Q6ZN55;Q6ZN55-2	.|ZN574_HUMAN;.	T|H	420|903;813	.|ENSP00000222339:R903H;ENSP00000351939:R813H	ENSP00000445515:A420T|ENSP00000222339:R903H	A|R	+|+	1|2	0|0	ZNF574|ZNF574	47277036|47277036	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.503000|1.503000	0.35715|0.35715	2.510000|2.510000	0.84645|0.84645	0.557000|0.557000	0.71058|0.71058	GCC|CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	1	0	1	96	428	0	106	1	9.999967e-01	17	65	0	106	2		0	0	0	0	1	2	1	1	96	423	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF526	116115	broad.mit.edu	37	19	42729326	42729326	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42729326C>T	ENST00000301215.3	+	3	996	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526			22		Prostate(69;0.0704)			TGGCAGAGGTCGGTGATGATG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000301215.3	1	1	hg19	CCDS12598.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	1	0	1	53	214	0	28	1	9.966770e-01	11	27	0	28	2		0	0	0	0	0	2	1	1	50	212	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERF	2077	broad.mit.edu	37	19	42752816	42752816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42752816C>T	ENST00000222329.4	-	4	1605	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R408H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor			17		Prostate(69;0.00682)			CCGCTTAAAGCGTAGCTTGAG	0.677000																								0							SO:0001583	missense			ENST00000222329.4	1	1	hg19	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448516	0.84101	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.39229	2.07;1.09	4.12	4.12	0.48240	.	0.000000	0.33040	U	0.005349	T	0.58538	0.2129	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.62656	-0.6808	10	0.87932	D	0	.	14.2641	0.66104	0.0:1.0:0.0:0.0	.	483	P50548	ERF_HUMAN	H	483;408	ENSP00000222329:R483H;ENSP00000388173:R408H	ENSP00000222329:R483H	R	-	2	0	ERF	47444656	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.317000	0.72862	2.297000	0.77311	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	1	0	1	102	501	0	81	1	1	79	195	0	81	2		0	0	0	0	0	2	1	1	101	494	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERF	2077	broad.mit.edu	37	19	42753023	42753023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753023C>A	ENST00000222329.4	-	4	1398	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.G339V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor			17		Prostate(69;0.00682)			GGCTAGCGCCCCTGCCCCCTC	0.692000																								0							SO:0001583	missense			ENST00000222329.4	1	1	hg19	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	2.385	-0.341122	0.05243	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.19938	3.16;2.11	4.05	1.71	0.24356	.	4.932210	0.00424	N	0.000070	T	0.18882	0.0453	L	0.36672	1.1	0.52501	D	0.999958	B	0.06786	0.001	B	0.04013	0.001	T	0.26710	-1.0095	10	0.32370	T	0.25	.	6.6114	0.22753	0.1758:0.7224:0.0:0.1018	.	414	P50548	ERF_HUMAN	V	414;339	ENSP00000222329:G414V;ENSP00000388173:G339V	ENSP00000222329:G414V	G	-	2	0	ERF	47444863	0.009000	0.17119	0.815000	0.32552	0.439000	0.31926	0.812000	0.27211	1.042000	0.40150	0.609000	0.83330	GGG		TCGA-IB-7651-01A-11D-2154-08	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	1	0	0	188	707	0	86	1	1	54	147	0	86	2		0	0	0	0	0	2	1	1	184	686	0	81	2								-3.737933	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERF	2077	broad.mit.edu	37	19	42753278	42753278	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753278C>T	ENST00000222329.4	-	4	1143	c.986G>A	c.(985-987)cGc>cAc	p.R329H	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R254H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor			17		Prostate(69;0.00682)			CAGGAAGGCGCGGGGGCTGAG	0.682000																								0							SO:0001583	missense			ENST00000222329.4	1	1	hg19	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116673	0.77323	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.33865	1.39;1.39	4.82	3.78	0.43462	.	0.148471	0.44902	D	0.000416	T	0.52322	0.1727	L	0.57536	1.79	0.58432	D	0.99999	D	0.76494	0.999	D	0.76071	0.987	T	0.54302	-0.8314	10	0.87932	D	0	.	10.4326	0.44417	0.0:0.9038:0.0:0.0962	.	329	P50548	ERF_HUMAN	H	329;254	ENSP00000222329:R329H;ENSP00000388173:R254H	ENSP00000222329:R329H	R	-	2	0	ERF	47445118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.506000	0.66993	2.382000	0.81193	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	1	0	1	34	302	0	49	1	1	51	259	0	49	2		0	0	0	0	0	2	1	1	33	295	0	48	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.860000	1.000000	1.000000	0.989786	0.990000	1	9.900000e-01	1
ERF	2077	broad.mit.edu	37	19	42753347	42753347	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753347C>A	ENST00000222329.4	-	4	1074	c.917G>T	c.(916-918)aGc>aTc	p.S306I	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.S231I	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor			17		Prostate(69;0.00682)			GTCCTCAGGGCTGAAGGAGAA	0.667000																								0							SO:0001583	missense			ENST00000222329.4	1	1	hg19	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329046	0.60743	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.29397	1.57;1.57	5.09	4.05	0.47172	.	0.060727	0.64402	D	0.000007	T	0.14700	0.0355	N	0.08118	0	0.36871	D	0.88889	P	0.45126	0.851	B	0.38880	0.284	T	0.13629	-1.0502	10	0.87932	D	0	.	7.9331	0.29914	0.0:0.8129:0.0:0.1871	.	306	P50548	ERF_HUMAN	I	306;231	ENSP00000222329:S306I;ENSP00000388173:S231I	ENSP00000222329:S306I	S	-	2	0	ERF	47445187	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.991000	0.49409	1.271000	0.44313	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	1	0	1	33	160	0	30	1	1	74	222	0	30	2		0	0	0	0	0	2	1	1	33	159	0	30	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
CIC	23152	broad.mit.edu	37	19	42792029	42792029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42792029G>A	ENST00000575354.2	+	6	873	c.833G>A	c.(832-834)aGc>aAc	p.S278N	CIC_ENST00000160740.3_Missense_Mutation_p.S278N|CIC_ENST00000572681.2_Missense_Mutation_p.S1187N	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor			82		Prostate(69;0.00682)			AAGAAGTCCAGCTCAGAGGCC	0.647000			Mis, F, S		oligodendroglioma										Rec	yes		19	19q13.2	23152	capicua homolog		O	0							SO:0001583	missense			ENST00000575354.2	0	1	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620010	0.46736	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	High mobility group, HMG1/HMG2 (1);	.	.	.	.	T	0.68339	0.2990	L	0.55213	1.73	0.41738	D	0.989599	D	0.69078	0.997	P	0.60789	0.879	T	0.72747	-0.4200	8	0.87932	D	0	-12.7475	14.9544	0.71101	0.0:0.0:1.0:0.0	.	278	Q96RK0	CIC_HUMAN	N	278	.	ENSP00000160740:S278N	S	+	2	0	CIC	47483869	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.802000	0.62539	2.391000	0.81399	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0	0	1	6	84	0	18	1	9.896764e-01	15	110	0	18	2		0	0	0	0	0	2	1	9.666917e-01	6	84	0	17	2								-10.465860	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.850000	0.350000	1.000000	1.000000	0.805420	0.850000	1	5.600000e-01	1
CIC	23152	broad.mit.edu	37	19	42795086	42795086	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42795086G>A	ENST00000575354.2	+	10	2206	c.2166G>A	c.(2164-2166)ccG>ccA	p.P722P	CIC_ENST00000160740.3_Silent_p.P722P|CIC_ENST00000572681.2_Silent_p.P1631P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor			82		Prostate(69;0.00682)			GGGGCTCCCCGCTGGGTGTCA	0.647000			Mis, F, S		oligodendroglioma										Rec	yes		19	19q13.2	23152	capicua homolog		O	0							SO:0001819	synonymous_variant			ENST00000575354.2	1	1	hg19	CCDS12601.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	1	0	1	38	181	0	61	1	9.999998e-01	34	85	0	61	2		0	0	0	0	0	2	1	1	38	180	0	61	2								-3.306756	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CIC	23152	broad.mit.edu	37	19	42797365	42797365	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42797365G>A	ENST00000575354.2	+	15	3767	c.3727G>A	c.(3727-3729)Gcc>Acc	p.A1243T	CIC_ENST00000160740.3_Missense_Mutation_p.A1241T|CIC_ENST00000572681.2_Missense_Mutation_p.A2150T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor			82		Prostate(69;0.00682)			GACTCCCACGGCCCGGAGCAG	0.716000			Mis, F, S		oligodendroglioma										Rec	yes		19	19q13.2	23152	capicua homolog		O	0							SO:0001583	missense			ENST00000575354.2	0	1	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404741	0.25378	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	2.06	0.26882	.	.	.	.	.	T	0.17662	0.0424	N	0.08118	0	0.24145	N	0.995716	B	0.06786	0.001	B	0.04013	0.001	T	0.19321	-1.0309	8	0.87932	D	0	-3.0206	4.6748	0.12706	0.1533:0.2077:0.6391:0.0	.	1243	Q96RK0	CIC_HUMAN	T	1243	.	ENSP00000160740:A1243T	A	+	1	0	CIC	47489205	0.635000	0.27199	0.516000	0.27786	0.254000	0.26022	0.944000	0.29043	0.453000	0.26858	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0	0	1	8	58	0	11	1	9.987194e-01	27	73	0	11	2		0	0	0	0	0	2	1	9.902991e-01	8	57	0	11	2								-15.063540	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.700000	1.000000	1.000000	0.975955	0.990000	1	9.900000e-01	1
CIC	23152	broad.mit.edu	37	19	42799146	42799146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42799146G>A	ENST00000575354.2	+	20	4670	c.4630G>A	c.(4630-4632)Gct>Act	p.A1544T	CIC_ENST00000160740.3_Missense_Mutation_p.A1542T|CIC_ENST00000572681.2_Missense_Mutation_p.A2450T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor			82		Prostate(69;0.00682)			cactggcaccgctgctgcccc	0.726000			Mis, F, S		oligodendroglioma										Rec	yes		19	19q13.2	23152	capicua homolog		O	0							SO:0001583	missense			ENST00000575354.2	1	1	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.862015	0.32884	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.25	2.12	0.27331	.	.	.	.	.	T	0.17152	0.0412	N	0.08118	0	0.19300	N	0.99998	B	0.12630	0.006	B	0.04013	0.001	T	0.18777	-1.0326	8	0.87932	D	0	-2.1472	3.5746	0.07930	0.2114:0.0:0.5901:0.1984	.	1544	Q96RK0	CIC_HUMAN	T	1544	.	ENSP00000160740:A1544T	A	+	1	0	CIC	47490986	0.046000	0.20272	0.524000	0.27887	0.942000	0.58702	0.040000	0.13905	0.554000	0.29061	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0	0	0	36	123	0	28	1	1	29	72	0	28	2		0	0	0	0	0	2	1	1	35	121	0	28	2								-20.000000	1	1	120564	4	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAFAH1B3	5050	broad.mit.edu	37	19	42804140	42804140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42804140C>A	ENST00000262890.3	-	4	651	c.390G>T	c.(388-390)caG>caT	p.Q130H	PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.Q130H|PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)			4		Prostate(69;0.0704)			CAACCCGGGCCTGGGGCTGTC	0.587000																								0							SO:0001583	missense			ENST00000262890.3	1	1	hg19	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241555	0.39598	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.42900	0.96;0.96	5.59	3.42	0.39159	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.230320	0.44483	N	0.000445	T	0.32912	0.0845	L	0.61387	1.9	0.41722	D	0.989517	B	0.32425	0.371	B	0.26969	0.075	T	0.11792	-1.0573	10	0.36615	T	0.2	-25.9708	5.0651	0.14578	0.1687:0.6609:0.0:0.1704	.	130	Q15102	PA1B3_HUMAN	H	130	ENSP00000444935:Q130H;ENSP00000262890:Q130H	ENSP00000262890:Q130H	Q	-	3	2	PAFAH1B3	47495980	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.531000	0.23052	0.687000	0.31509	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463726.1	0	0	0	18	769	0	159	1	9.141862e-01	6	175	0	159	2		0	0	0	0	0	2	1	9.999736e-01	18	738	0	153	2								-3.208166	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.280000	0.160000	1.000000	0.270000	0.341950	0.280000	0	2.100000e-01	3.800000e-01
SHD	56961	broad.mit.edu	37	19	4283065	4283065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4283065G>T	ENST00000543264.2	+	3	1881	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	SHD_ENST00000599689.1_Missense_Mutation_p.G140W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D			14					TCCCGGCAGAGGGGTGCAGCT	0.617000																								0							SO:0001583	missense			ENST00000543264.2	1	1	hg19	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833978	0.50951	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.30714	1.52	4.63	1.06	0.20224	.	0.875466	0.09879	N	0.743981	T	0.33818	0.0876	L	0.40543	1.245	0.09310	N	1	P;P	0.39883	0.693;0.669	P;P	0.48270	0.572;0.572	T	0.32134	-0.9918	10	0.87932	D	0	-5.7012	8.3173	0.32108	0.2958:0.0:0.7042:0.0	.	54;140	Q9NPN8;Q96IW2	.;SHD_HUMAN	W	140;55	ENSP00000446058:G140W	ENSP00000221852:G55W	G	+	1	0	SHD	4234065	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.356000	0.20181	0.189000	0.20188	0.448000	0.29417	GGG		TCGA-IB-7651-01A-11D-2154-08	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	1	0	0	24	236	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	9.999997e-01	24	232	0	68	2								-3.221884	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.730000	1.000000	1.000000	0.965784	0.990000	1	9.000000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42837896	42837896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42837896G>A	ENST00000251268.6	+	2	327	c.327G>A	c.(325-327)ccG>ccA	p.P109P	MEGF8_ENST00000334370.4_Silent_p.P109P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			CCCGACCTCCGCCCATCGAAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000251268.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	48	250	0	79	0	9.486013e-01	0	28	0	79	2		0	0	0	0	0	2	1	1	48	242	0	77	2								-3.243415	1	1	121032	3	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42848687	42848687	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42848687C>A	ENST00000251268.6	+	11	1883	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	MEGF8_ENST00000334370.4_Missense_Mutation_p.P628H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			CCACGGGGACCTGGCACCCTG	0.711000																								0							SO:0001583	missense			ENST00000251268.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.373	1.070957	0.20147	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.06;2.05	4.64	4.64	0.57946	.	0.155915	0.40908	D	0.000999	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.991;0.997	P;P	0.57548	0.687;0.823	T	0.05632	-1.0873	10	0.27785	T	0.31	-8.9146	8.7811	0.34792	0.0:0.8953:0.0:0.1047	.	628;628	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	628	ENSP00000334219:P628H;ENSP00000251268:P628H	ENSP00000251268:P628H	P	+	2	0	MEGF8	47540527	0.999000	0.42202	0.415000	0.26534	0.245000	0.25701	5.236000	0.65354	2.139000	0.66308	0.306000	0.20318	CCT		TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	51	157	0	26	0	7.906945e-01	1	10	0	26	2		0	0	0	0	0	2	1	1	50	150	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42857101	42857101	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42857101T>G	ENST00000251268.6	+	20	3372	c.3372T>G	c.(3370-3372)caT>caG	p.H1124Q	MEGF8_ENST00000334370.4_Missense_Mutation_p.H1057Q	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			ACTGTGGCCATGGTGTGTGCA	0.682000																								0							SO:0001583	missense			ENST00000251268.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	14.13	2.442395	0.43326	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21932	1.98;1.99	5.41	-4.91	0.03085	Epidermal growth factor-like (1);	0.159391	0.42682	D	0.000661	T	0.11537	0.0281	N	0.21194	0.64	0.80722	D	1	P;B	0.34934	0.476;0.22	B;B	0.29267	0.1;0.042	T	0.01071	-1.1461	10	0.62326	D	0.03	-12.568	15.5599	0.76237	0.0:0.6235:0.0:0.3765	.	1124;1057	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Q	1057;1124	ENSP00000334219:H1057Q;ENSP00000251268:H1124Q	ENSP00000251268:H1124Q	H	+	3	2	MEGF8	47548941	0.020000	0.18652	0.953000	0.39169	0.823000	0.46562	-1.492000	0.02300	-0.873000	0.04032	-0.366000	0.07423	CAT		TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	7	34	0	11	0	6.064134e-01	0	11	0	11	2		0	0	0	0	0	2	1	9.839208e-01	7	34	0	11	2								-15.225620	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.860000	1.000000	1.000000	0.991791	0.990000	1	9.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42858175	42858175	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42858175C>T	ENST00000251268.6	+	22	4010	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	MEGF8_ENST00000334370.4_Splice_Site_p.T1270M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			ACCCCCTGCACGGTGAGCACT	0.622000																								0							SO:0001630	splice_region_variant			ENST00000251268.6	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	18.26	3.584624	0.65992	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.29917	1.55;1.55	4.81	4.81	0.61882	CUB (1);	0.147023	0.44688	D	0.000436	T	0.45756	0.1358	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.951;0.997	T	0.41858	-0.9485	10	0.56958	D	0.05	-9.1631	16.8144	0.85729	0.0:1.0:0.0:0.0	.	1337;1270	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	M	1270;1337	ENSP00000334219:T1270M;ENSP00000251268:T1337M	ENSP00000251268:T1337M	T	+	2	0	MEGF8	47550015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.297000	0.43593	2.500000	0.84329	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	9	29	0	17	0	9.973523e-01	0	41	0	17	2		0	0	0	0	0	2	1	9.949854e-01	8	28	0	17	2								-19.165780	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998952	0.990000	1	9.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42863068	42863068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42863068G>T	ENST00000251268.6	+	30	5305	c.5305G>T	c.(5305-5307)Gga>Tga	p.G1769*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.G1702*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			TGCTGGTACAGGAGGTTTCCT	0.572000																								0							SO:0001587	stop_gained			ENST00000251268.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	47	13.094293	0.99719	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	3.39	-0.167	0.13347	.	0.675623	0.12162	N	0.493866	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.0309	2.5615	0.04773	0.276:0.0:0.4938:0.2302	.	.	.	.	X	1702;1769	.	ENSP00000251268:G1769X	G	+	1	0	MEGF8	47554908	0.001000	0.12720	0.002000	0.10522	0.184000	0.23303	0.106000	0.15354	-0.048000	0.13401	0.462000	0.41574	GGA		TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	20	81	0	14	0	1.896135e-01	0	4	0	14	2		0	0	0	0	0	2	1	9.999960e-01	20	75	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42866638	42866638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42866638C>T	ENST00000251268.6	+	34	5947	c.5947C>T	c.(5947-5949)Cga>Tga	p.R1983*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.R1916*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			GATCAACCAGCGAGAGGTCTT	0.627000																								0							SO:0001587	stop_gained			ENST00000251268.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	48	14.208143	0.99784	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.43	3.27	0.37495	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7193	13.577	0.61879	0.2843:0.7157:0.0:0.0	.	.	.	.	X	1916;1983	.	ENSP00000251268:R1983X	R	+	1	2	MEGF8	47558478	1.000000	0.71417	0.999000	0.59377	0.065000	0.16274	2.282000	0.43461	0.658000	0.30925	-0.311000	0.09066	CGA		TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	137	558	0	158	0	9.742220e-01	0	26	0	158	2		0	0	0	0	0	2	1	1	136	552	0	157	2								-20.000000	1	1	121408	1	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42867301	42867301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42867301C>T	ENST00000251268.6	+	35	6160	c.6160C>T	c.(6160-6162)Cca>Tca	p.P2054S	MEGF8_ENST00000334370.4_Missense_Mutation_p.P1987S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			ATCATCACCCCCACTGCCCTG	0.622000																								0							SO:0001583	missense			ENST00000251268.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.90	3.250896	0.59212	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.22589	0.0545	N	0.16790	0.44	0.80722	D	1	B;D	0.57571	0.006;0.98	B;P	0.50617	0.013;0.646	T	0.02307	-1.1179	10	0.49607	T	0.09	-9.6731	17.701	0.88294	0.0:1.0:0.0:0.0	.	2054;1987	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1987;2054	ENSP00000334219:P1987S;ENSP00000251268:P2054S	ENSP00000251268:P2054S	P	+	1	0	MEGF8	47559141	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.334000	0.65923	2.556000	0.86216	0.508000	0.49915	CCA		TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	28	86	0	26	0	9.902889e-01	1	25	0	26	2		0	0	0	0	0	2	1	1	28	82	0	25	2								-19.977200	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42874461	42874461	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42874461T>C	ENST00000251268.6	+	39	6955	c.6955T>C	c.(6955-6957)Tta>Cta	p.L2319L	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000334370.4_Silent_p.L2252L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			CAGGAAGGAGTTACAAATGTC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000251268.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	0	0	0	19	94	0	21	1	9.629377e-01	2	28	0	21	2		0	0	0	0	0	2	1	9.999940e-01	19	92	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999788	0.990000	1	9.900000e-01	1
MEGF8	1954	broad.mit.edu	37	19	42880264	42880264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42880264C>T	ENST00000251268.6	+	42	7875	c.7875C>T	c.(7873-7875)ccC>ccT	p.P2625P	MEGF8_ENST00000378073.4_Silent_p.P219P|MEGF8_ENST00000334370.4_Silent_p.P2558P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			CAAGTGGGCCCGGCGCCAACG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000251268.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	0	0	0	7	340	0	35	0	1.705348e-01	0	31	0	35	2		0	0	0	0	0	2	1	9.773672e-01	6	325	0	32	2								-7.017731	1	0	121342	2	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.260000	0.110000	1.000000	0.230000	0.327528	0.260000	0	1.700000e-01	4.000000e-01
LIPE	3991	broad.mit.edu	37	19	42910490	42910490	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42910490G>T	ENST00000244289.4	-	7	2464	c.2188C>A	c.(2188-2190)Ctc>Atc	p.L730I	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive			32		Prostate(69;0.00682)			GTGAAGCAGAGGTTCCCGCCT	0.657000																								0							SO:0001583	missense			ENST00000244289.4	1	1	hg19	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268992	0.80469	.	.	ENSG00000079435	ENST00000244289	T	0.19938	2.11	4.74	4.74	0.60224	Alpha/beta hydrolase fold-3 (1);	0.208552	0.30959	N	0.008530	T	0.39627	0.1085	M	0.88775	2.98	0.46901	D	0.999244	B	0.24920	0.114	B	0.34590	0.186	T	0.47209	-0.9135	10	0.62326	D	0.03	-21.1728	16.925	0.86174	0.0:0.0:1.0:0.0	.	730	Q05469	LIPS_HUMAN	I	730	ENSP00000244289:L730I	ENSP00000244289:L730I	L	-	1	0	LIPE	47602330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.180000	0.58296	2.367000	0.80283	0.579000	0.79373	CTC		TCGA-IB-7651-01A-11D-2154-08	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	1	0	1	46	224	0	49	1	8.883796e-01	5	16	0	49	2		0	0	0	0	0	2	1	1	44	215	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPE	3991	broad.mit.edu	37	19	42911420	42911420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42911420G>A	ENST00000244289.4	-	6	2319	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive			32		Prostate(69;0.00682)			GGGAGTAGTCGATGGAGATGA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000244289.4	0	1	hg19	CCDS12607.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	1	0	1	8	70	0	12	0	5.621003e-01	1	16	0	12	2		0	0	0	0	0	2	1	9.901334e-01	8	69	0	11	2								-14.248940	1	1	121232	2	27	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.600000	1.000000	1.000000	0.952402	0.990000	1	8.800000e-01	1
TMIGD2	126259	broad.mit.edu	37	19	4292780	4292780	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4292780T>C	ENST00000301272.2	-	5	710	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMIGD2_ENST00000600349.1_Missense_Mutation_p.Y50C|TMIGD2_ENST00000600114.1_Missense_Mutation_p.Y102C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2			19					GGAGGTTGAATAAATGCTCTG	0.672000																								0							SO:0001583	missense			ENST00000301272.2	0	1	hg19	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956511	0.34565	.	.	ENSG00000167664	ENST00000301272	T	0.55588	0.51	3.04	0.695	0.18070	.	.	.	.	.	T	0.55321	0.1913	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.94	T	0.45175	-0.9279	9	0.66056	D	0.02	.	7.3198	0.26521	0.0:0.0:0.4456:0.5544	.	218;222	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	C	222	ENSP00000301272:Y222C	ENSP00000301272:Y222C	Y	-	2	0	TMIGD2	4243780	0.699000	0.27786	0.000000	0.03702	0.076000	0.17211	1.622000	0.36997	-0.039000	0.13602	0.454000	0.30748	TAT		TCGA-IB-7651-01A-11D-2154-08	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	0	0	0	9	419	0	51	0	1.739618e-03	0	3	0	51	2		0	0	0	0	0	2	1	9.936121e-01	9	408	0	51	2								-9.225834	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.260000	0.120000	1.000000	0.250000	0.331752	0.260000	0	1.800000e-01	4.000000e-01
PSG3	5671	broad.mit.edu	37	19	43233933	43233933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43233933G>A	ENST00000327495.5	-	4	1169	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3			36		Prostate(69;0.00682)			TACTCACAGAGGACATTCAGG	0.488000																								0							SO:0001583	missense			ENST00000327495.5	1	1	hg19	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	10.26	1.300189	0.23650	.	.	ENSG00000221826	ENST00000327495	T	0.10960	2.82	1.36	-0.148	0.13424	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25644	0.0624	M	0.77103	2.36	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.12656	-1.0539	9	0.31617	T	0.26	.	4.6649	0.12660	0.0:0.4105:0.5895:0.0	.	307;329	Q08266;Q16557	.;PSG3_HUMAN	F	329	ENSP00000332215:L329F	ENSP00000332215:L329F	L	-	1	0	PSG3	47925773	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.655000	0.01982	0.696000	0.31696	0.400000	0.26472	CTC		TCGA-IB-7651-01A-11D-2154-08	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	1	0	0	81	437	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1	70	361	0	187	2								-3.020402	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAP2	55620	broad.mit.edu	37	19	4325511	4325511	+	Silent	SNP	C	C	T	rs145032917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4325511C>T	ENST00000594605.1	-	10	984	c.861G>A	c.(859-861)ccG>ccA	p.P287P	STAP2_ENST00000600324.1_Silent_p.P287P|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2			23		Hepatocellular(1079;0.137)			CAGGTGACAGCGGCTTGGGGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000594605.1	0	1	hg19	CCDS45926.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	0	0	0	16	755	0	120	1	8.968853e-01	4	185	0	120	2		0	0	0	0	0	2	1	9.999137e-01	16	733	0	118	2								-2.477257	0	1	121406	12	45	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.250000	0.140000	1.000000	0.250000	0.319276	0.250000	0	1.900000e-01	3.500000e-01
PSG8	440533	broad.mit.edu	37	19	43258660	43258660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43258660C>T	ENST00000306511.4	-	5	1165	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000404209.4_Silent_p.A356A|PSG8_ENST00000406636.3_Silent_p.A234A|PSG8_ENST00000401467.2_Silent_p.A263A	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8			40		Prostate(69;0.00899)			GGTTAGAGTCCGCAGAACAGG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000306511.4	1	1	hg19	CCDS33037.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1	0	0	0	36	1028	0	241		0	0	0	0	241	2		0	0	0	0	0	2	1	1	35	982	0	299	2								-2.233558	0	1	121406	2	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.400000	0.280000	1.000000	0.400000	0.457747	0.400000	0	3.400000e-01	5.000000e-01
PSG8	440533	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43259290G>A	ENST00000306511.4	-	4	935	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.L280F|PSG8_ENST00000406636.3_Missense_Mutation_p.L158F|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	p.L280I(1)		40		Prostate(69;0.00899)			CTGACCGGGAGGCTCTGACCA	0.448000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000306511.4	0	1	hg19	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	9.445	1.089014	0.20390	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	1.26	0.133	0.14766	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43875	0.1267	M	0.93550	3.43	0.09310	N	1	D;D;D;D;P;P	0.89917	0.997;1.0;1.0;0.999;0.482;0.538	D;D;D;D;B;P	0.97110	0.977;1.0;0.997;0.997;0.333;0.464	T	0.19289	-1.0310	9	0.62326	D	0.03	.	3.0739	0.06240	0.3293:0.0:0.6706:0.0	.	158;187;280;187;280;280	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	F	280;158;187;92;187;280	ENSP00000385869:L280F;ENSP00000385081:L158F;ENSP00000386090:L187F;ENSP00000305005:L280F	ENSP00000305005:L280F	L	-	1	0	PSG8	47951130	0.018000	0.18449	0.187000	0.23214	0.061000	0.15899	0.421000	0.21280	0.653000	0.30826	0.298000	0.19748	CTC		TCGA-IB-7651-01A-11D-2154-08	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1	1	0	0	196	830	0	266		0	0	0	0	266	2		0	0	0	0	0	2	1	1	91	449	1	450	7								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSG8	440533	broad.mit.edu	37	19	43359721	43359721	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43359721C>T	ENST00000401467.2	-	1	122	c.51G>A	c.(49-51)ggG>ggA	p.G17G	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8			40		Prostate(69;0.00899)			TGAGCAGGACCCCCTTCCATT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000401467.2	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PSG8-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000464525.1	1	0	0	27	625	0	140		0	0	0	0	140	2		0	0	0	0	0	2	1	9.999999e-01	27	610	0	137	2								-3.837835	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.500000	0.330000	1.000000	0.490000	0.544449	0.500000	0	4.100000e-01	6.400000e-01
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43519460C>T	ENST00000401740.1	-	4	875	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000306322.7_Missense_Mutation_p.D136N			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	p.D258Y(1)		26		Prostate(69;0.00682)			CAGGACAAGTCGAGGTTCTCT	0.448000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000401740.1	1	1	hg19	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.632536	0.00115	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	1.13	-2.25	0.06888	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03136	0.0092	N	0.04335	-0.225	0.09310	N	1	B;B	0.23249	0.041;0.082	B;B	0.26202	0.006;0.067	T	0.36432	-0.9748	9	0.02654	T	1	.	2.2582	0.04060	0.0:0.247:0.3096:0.4434	.	136;258	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	258;136;136;258	ENSP00000319140:D258N;ENSP00000385427:D136N;ENSP00000304913:D136N;ENSP00000384995:D258N	ENSP00000304913:D136N	D	-	1	0	PSG11	48211300	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.587000	0.05780	-1.694000	0.01425	-1.271000	0.01417	GAC		TCGA-IB-7651-01A-11D-2154-08	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	1	0	1	193	715	0	181		0	0	0	0	181	2		0	0	0	0	0	2	1	1	186	706	0	180	2								-4.099104	1	1	121334	5	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHC2	25759	broad.mit.edu	37	19	436418	436418	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:436418T>C	ENST00000264554.6	-	6	787	c.788A>G	c.(787-789)tAc>tGc	p.Y263C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2			21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			GTAGGCCACGTAATCCGTCAT	0.716000																								0							SO:0001583	missense			ENST00000264554.6	1	1	hg19	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952042	0.73787	.	.	ENSG00000129946	ENST00000264554	T	0.15372	2.43	4.67	4.67	0.58626	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87038	2.855	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.55854	-0.8075	10	0.87932	D	0	-31.1631	13.588	0.61942	0.0:0.0:0.0:1.0	.	263	P98077	SHC2_HUMAN	C	263	ENSP00000264554:Y263C	ENSP00000264554:Y263C	Y	-	2	0	SHC2	387418	1.000000	0.71417	0.860000	0.33809	0.929000	0.56500	7.432000	0.80349	1.887000	0.54652	0.352000	0.21897	TAC		TCGA-IB-7651-01A-11D-2154-08	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3	1	0	1	67	241	0	40	1	1	39	108	0	40	2		0	0	0	0	0	2	1	1	67	238	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSG5	5673	broad.mit.edu	37	19	43679390	43679390	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43679390T>G	ENST00000366175.3	-	4	1071	c.941A>C	c.(940-942)aAa>aCa	p.K314T	PSG5_ENST00000407356.1_Missense_Mutation_p.K314T|PSG5_ENST00000404580.1_Missense_Mutation_p.K314T|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5			35		Prostate(69;0.00899)			TGTCATGGATTTGGAGCTTTC	0.458000																								0							SO:0001583	missense			ENST00000366175.3	0	1	hg19	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.374823	0.00207	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	1.25	-0.00511	0.14018	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05273	0.0140	N	0.11756	0.17	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.17722	0.019;0.006	T	0.43393	-0.9394	9	0.02654	T	1	.	4.6039	0.12366	0.0:0.0:0.626:0.374	.	407;314	Q15228;Q15238	.;PSG5_HUMAN	T	314	ENSP00000382334:K314T;ENSP00000386008:K314T;ENSP00000344413:K314T;ENSP00000385250:K314T	ENSP00000344413:K314T	K	-	2	0	PSG5	48371230	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.706000	0.05047	-0.160000	0.11002	-1.566000	0.00877	AAA		TCGA-IB-7651-01A-11D-2154-08	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	1	0	1	190	1010	0	271		0	0	0	0	271	2		0	0	0	0	0	2	1	1	159	892	0	299	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSG5	5673	broad.mit.edu	37	19	43680235	43680235	+	Missense_Mutation	SNP	C	C	T	rs142461950	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43680235C>T	ENST00000366175.3	-	3	626	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	PSG5_ENST00000407356.1_Missense_Mutation_p.A166T|PSG5_ENST00000404580.1_Missense_Mutation_p.A166T|PSG5_ENST00000599812.1_Missense_Mutation_p.A259T|PSG5_ENST00000342951.6_Missense_Mutation_p.A166T|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5			35		Prostate(69;0.00899)			CAGGTGAAGGCTAAGACATCC	0.483000																								0							SO:0001583	missense			ENST00000366175.3	1	0	hg19	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	c	2.797	-0.250067	0.05867	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	0.652	0.652	0.17823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.05031	-0.125	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.16722	0.016;0.003	T	0.46707	-0.9172	8	0.21014	T	0.42	.	.	.	.	.	259;166	Q15228;Q15238	.;PSG5_HUMAN	T	166	ENSP00000382334:A166T;ENSP00000386008:A166T;ENSP00000344413:A166T;ENSP00000385250:A166T	ENSP00000344413:A166T	A	-	1	0	PSG5	48372075	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.921000	0.01569	0.630000	0.30394	0.184000	0.17185	GCC		TCGA-IB-7651-01A-11D-2154-08	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	0	0	1	270	1170	0	312		0	0	0	0	312	2		0	0	0	0	0	2	1	1	252	1122	0	371	2								-1.180470	0	1	121394	26	50	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSG5	5673	broad.mit.edu	37	19	43689108	43689108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43689108C>T	ENST00000366175.3	-	2	386	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG5_ENST00000407356.1_Missense_Mutation_p.G86S|PSG5_ENST00000404580.1_Missense_Mutation_p.G86S|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5			35		Prostate(69;0.00899)			TTTATTTGACCGTCTACTACA	0.438000																								0							SO:0001583	missense			ENST00000366175.3	1	1	hg19	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	0.169	-1.073275	0.01918	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	1.56	-3.12	0.05282	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33294	0.0858	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.001;0.003	B;B;B;B	0.12156	0.007;0.007;0.002;0.004	T	0.20273	-1.0280	9	0.10377	T	0.69	.	4.6263	0.12479	0.0:0.511:0.218:0.2709	.	86;86;86;86	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	S	86	ENSP00000382334:G86S;ENSP00000386008:G86S;ENSP00000386053:G86S;ENSP00000344413:G86S;ENSP00000385250:G86S	ENSP00000344413:G86S	G	-	1	0	PSG5	48380948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.628000	0.02031	-1.539000	0.01732	-0.771000	0.03389	GGT		TCGA-IB-7651-01A-11D-2154-08	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	0	0	1	336	1397	0	356		0	0	0	0	356	2		0	0	0	0	0	2	1	1	330	1378	1	353	17								-2.477387	0	1	121390	9	47	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSG4	5672	broad.mit.edu	37	19	43698728	43698728	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43698728C>A	ENST00000405312.3	-	5	1244	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	PSG4_ENST00000244295.9_Missense_Mutation_p.S243I|PSG4_ENST00000433626.2_Missense_Mutation_p.S243I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4			24		Prostate(69;0.00682)			AGGGTAAATGCTGGGGAGGTC	0.483000																								0							SO:0001583	missense			ENST00000405312.3	1	1	hg19	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	2.508	-0.313692	0.05422	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.11495	2.77;2.77;2.77	1.4	0.141	0.14811	Immunoglobulin-like (1);	.	.	.	.	T	0.10637	0.0260	N	0.13140	0.3	0.09310	N	1	B;B;B	0.32302	0.048;0.001;0.363	B;B;P	0.50896	0.189;0.005;0.653	T	0.51356	-0.8716	9	0.17369	T	0.5	.	5.4507	0.16563	0.0:0.389:0.611:0.0	.	243;243;336	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	243;336;243	ENSP00000244295:S243I;ENSP00000384770:S336I;ENSP00000387864:S243I	ENSP00000244295:S243I	S	-	2	0	PSG4	48390568	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.180000	0.03088	-0.099000	0.12263	-0.551000	0.04211	AGC		TCGA-IB-7651-01A-11D-2154-08	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	1	0	1	189	805	0	232	0	0	0	1	0	232	2		0	0	0	0	0	2	1	1	179	783	0	233	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSG9	5678	broad.mit.edu	37	19	43763286	43763286	+	Splice_Site	SNP	C	C	T	rs4028446		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43763286C>T	ENST00000270077.3	-	4	807	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PSG9_ENST00000418820.2_Splice_Site_p.S144S|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9			41		Prostate(69;0.00682)			TGGGCAGCTTCGCTGTGTGGA	0.493000																								0							SO:0001630	splice_region_variant			ENST00000270077.3	1	0	hg19	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	0.170	-1.072691	0.01918	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.39	-2.77	0.05877	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.20196	N	0.999921	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	2.0306	0.03528	0.2555:0.3247:0.0:0.4198	rs4028446	.	.	.	Q	131	.	.	R	-	2	0	PSG9	48455126	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.242000	0.02908	-0.656000	0.05380	-1.031000	0.02408	CGA		TCGA-IB-7651-01A-11D-2154-08	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	1	0	1	173	989	0	249		0	0	0	0	249	2		0	0	0	0	0	2	1	1	158	966	0	249	2								-20.000000	1	1	120006	8	43	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSG9	5678	broad.mit.edu	37	19	43766205	43766205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43766205C>T	ENST00000270077.3	-	3	612	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Silent_p.E172E|PSG9_ENST00000244293.7_Silent_p.E172E|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9			41		Prostate(69;0.00682)			CGTCCAGAGTCTCAGGATCAC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000270077.3	1	1	hg19	CCDS12618.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	1	0	0	295	1217	0	313		0	0	0	0	313	2		0	0	0	0	0	2	1	1	287	1208	0	312	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD177	57126	broad.mit.edu	37	19	43858441	43858441	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858441C>A	ENST00000607517.1	+	0	332				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule			5		Prostate(69;0.00682)			ACCGGATGGGCCCCGGCCTCT	0.657000																								0											ENST00000607517.1	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	0	0	1	46	211	0	44	0	3.350163e-02	0	2	0	44	2		0	0	0	0	0	2	1	1	46	211	0	42	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB3	653583	broad.mit.edu	37	19	43998922	43998922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43998922C>A	ENST00000292140.5	-	9	1441	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3			7		Prostate(69;0.0153)			GCCACGGCATCCTGGAGCACC	0.612000																								0							SO:0001583	missense			ENST00000292140.5	0	1	hg19	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646014	0.47258	.	.	ENSG00000176531	ENST00000292140	T	0.52526	0.66	4.6	4.6	0.57074	.	.	.	.	.	T	0.56232	0.1971	L	0.29908	0.895	0.33992	D	0.649202	D;D	0.89917	0.986;1.0	P;D	0.83275	0.579;0.996	T	0.66705	-0.5856	9	0.56958	D	0.05	.	13.3415	0.60547	0.0:1.0:0.0:0.0	.	65;361	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	Y	361	ENSP00000292140:D361Y	ENSP00000292140:D361Y	D	-	1	0	PHLDB3	48690762	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.744000	0.55112	2.266000	0.75297	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2	0	0	1	5	98	0	28	1	6.270151e-01	9	31	0	28	2		0	0	0	0	0	2	1	9.358919e-01	5	96	0	28	2								-8.680983	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.630000	0.240000	1.000000	1.000000	0.661891	0.630000	0	4.000000e-01	1
SH3GL1	6455	broad.mit.edu	37	19	4400336	4400336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4400336G>A	ENST00000269886.3	-	1	208	c.30C>T	c.(28-30)ttC>ttT	p.F10F	CHAF1A_ENST00000301280.5_5'Flank|SH3GL1_ENST00000598564.1_Silent_p.F10F|SH3GL1_ENST00000417295.2_Silent_p.F10F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1			26					TCGCCTTGTAGAACTGCTTCT	0.771000			T	MLL	AL								NSCLC(94;1152 2133 30346 33362)		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0							SO:0001819	synonymous_variant			ENST00000269886.3	1	1	hg19	CCDS32874.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	1	0	0	20	182	0	30	1	9.999905e-01	27	155	0	30	2		0	0	0	0	0	2	1	9.999950e-01	19	176	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.975795	0.990000	1	9.500000e-01	1
ETHE1	23474	broad.mit.edu	37	19	44015646	44015646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44015646C>T	ENST00000292147.2	-	4	514	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	ETHE1_ENST00000600651.1_Missense_Mutation_p.A150T	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1			5		Prostate(69;0.0153)			CCAGTGAAGGCCATGCTGTGG	0.572000																								0							SO:0001583	missense			ENST00000292147.2	1	1	hg19	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400492	0.96030	.	.	ENSG00000105755	ENST00000292147	T	0.80824	-1.42	5.04	5.04	0.67666	Beta-lactamase-like (2);	0.056346	0.64402	D	0.000002	D	0.92476	0.7611	H	0.95470	3.675	0.58432	D	0.999999	D;D	0.76494	0.992;0.999	P;D	0.72075	0.823;0.976	D	0.93924	0.7208	10	0.62326	D	0.03	-1.0203	16.3468	0.83138	0.0:1.0:0.0:0.0	.	123;150	B2RCZ7;O95571	.;ETHE1_HUMAN	T	150	ENSP00000292147:A150T	ENSP00000292147:A150T	A	-	1	0	ETHE1	48707486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.703000	0.74633	2.808000	0.96608	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	1	0	1	34	220	0	55	1	1	159	282	0	55	2		0	0	0	0	0	2	1	1	33	217	0	55	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999790	0.990000	1	9.900000e-01	1
XRCC1	7515	broad.mit.edu	37	19	44056975	44056975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44056975G>A	ENST00000262887.5	-	8	1344	c.797C>T	c.(796-798)tCg>tTg	p.S266L	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1			19		Prostate(69;0.0153)			AACAGATGGCGACAGCTGGGC	0.562000								Other BER factors																0							SO:0001583	missense			ENST00000262887.5	1	1	hg19	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	2.030	-0.422592	0.04734	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03124	4.07;4.04	4.35	-3.95	0.04118	.	2.105260	0.02044	N	0.049529	T	0.02767	0.0083	N	0.21448	0.665	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.43972	-0.9358	10	0.27082	T	0.32	2.3862	4.5857	0.12280	0.4721:0.0:0.377:0.1509	.	235;266	F5H8D7;P18887	.;XRCC1_HUMAN	L	280;266;235;266	ENSP00000262887:S266L;ENSP00000443671:S235L	ENSP00000262887:S266L	S	-	2	0	XRCC1	48748815	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.192000	0.17096	-0.318000	0.08665	-1.326000	0.01283	TCG		TCGA-IB-7651-01A-11D-2154-08	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	1	0	1	53	226	0	28	1	1	27	94	0	28	2		0	0	0	0	0	2	1	1	53	223	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHC2	25759	broad.mit.edu	37	19	440898	440898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:440898C>T	ENST00000264554.6	-	2	502	c.503G>A	c.(502-504)cGc>cAc	p.R168H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2			21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			GTCCAGGGAGCGCATAGAGCG	0.637000																								0							SO:0001583	missense			ENST00000264554.6	1	1	hg19	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166787	0.78339	.	.	ENSG00000129946	ENST00000264554	T	0.22539	1.95	3.2	3.2	0.36748	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.50429	0.1615	M	0.88450	2.955	0.48395	D	0.999646	D	0.89917	1.0	D	0.85130	0.997	T	0.61700	-0.7009	10	0.87932	D	0	-34.3311	12.6692	0.56858	0.0:1.0:0.0:0.0	.	168	P98077	SHC2_HUMAN	H	168	ENSP00000264554:R168H	ENSP00000264554:R168H	R	-	2	0	SHC2	391898	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.160000	0.77495	1.742000	0.51746	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3	1	0	1	113	476	0	109	1	9.999995e-01	20	68	0	109	2		0	0	0	0	0	2	1	1	112	470	0	107	2								-20.000000	1	1	121072	2	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHAF1A	10036	broad.mit.edu	37	19	4409479	4409479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4409479C>T	ENST00000301280.5	+	3	784	c.683C>T	c.(682-684)gCt>gTt	p.A228V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)			27		Hepatocellular(1079;0.137)			TGGAGTGAAGCTGGGGGCATC	0.592000								Chromatin Structure																0							SO:0001583	missense			ENST00000301280.5	1	1	hg19	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355976	0.41700	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.57273	0.41	5.78	4.55	0.56014	.	.	.	.	.	T	0.41789	0.1174	L	0.34521	1.04	0.09310	N	1	P	0.36753	0.568	B	0.36608	0.229	T	0.38001	-0.9681	9	0.87932	D	0	-33.0748	8.718	0.34423	0.0:0.8566:0.0:0.1434	.	228	Q13111	CAF1A_HUMAN	V	228	ENSP00000301280:A228V	ENSP00000301280:A228V	A	+	2	0	CHAF1A	4360479	0.785000	0.28726	0.149000	0.22428	0.362000	0.29581	2.147000	0.42226	2.721000	0.93114	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	0	51	265	0	76	1	9.808400e-01	19	16	0	76	2		0	0	0	0	0	2	1	1	49	258	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44097296C>T	ENST00000602269.1	-	2	939	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000601520.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.A252T|L34079.2_ENST00000594374.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q			18		Prostate(69;0.0199)			GCAGGCGCAGCGCCTGGGTCG	0.692000																								0							SO:0001583	missense			ENST00000602269.1	1	1	hg19	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849297	0.51270	.	.	ENSG00000167378	ENST00000422989	T	0.66460	-0.21	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.76842	0.4044	M	0.64997	1.995	0.09310	N	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.67360	-0.5690	10	0.66056	D	0.02	-20.4241	10.9344	0.47237	0.0:0.8108:0.1892:0.0	.	252	Q8WZA9	IRGQ_HUMAN	T	252	ENSP00000387535:A252T	ENSP00000387535:A252T	A	-	1	0	IRGQ	48789136	0.626000	0.27120	0.182000	0.23118	0.348000	0.29142	3.325000	0.52030	2.782000	0.95742	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	1	0	1	57	245	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1	56	242	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF576	79177	broad.mit.edu	37	19	44101344	44101344	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44101344C>T	ENST00000336564.4	+	2	238	c.84C>T	c.(82-84)atC>atT	p.I28I	IRGQ_ENST00000602269.1_5'Flank|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000391965.2_Splice_Site_p.I28I|SRRM5_ENST00000607544.1_5'UTR|SRRM5_ENST00000526798.1_5'UTR|ZNF576_ENST00000529930.1_Splice_Site_p.I28I|ZNF576_ENST00000525771.1_Splice_Site_p.I28I|ZNF576_ENST00000533118.1_Splice_Site_p.I28I|ZNF576_ENST00000528387.1_Splice_Site_p.I28I	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576			2		Prostate(69;0.0199)			GAGGCAACATCTGTGAGTACA	0.577000																								0							SO:0001630	splice_region_variant			ENST00000336564.4	1	0	hg19	CCDS12625.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	1	0	1	67	206	0	59	1	1	37	69	0	59	2		0	0	0	0	0	2	1	1	65	201	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNN4	3783	broad.mit.edu	37	19	44278573	44278573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44278573G>A	ENST00000262888.3	-	3	849	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4			15		Prostate(69;0.0352)		Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GCCAGGGACAGCAGCGCTTCC	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000262888.3	1	1	hg19	CCDS12630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	1	0	1	13	62	0	16	1	9.963844e-01	18	32	0	16	2		0	0	0	0	0	2	1	9.996019e-01	12	60	0	16	2								-19.999900	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998999	0.990000	1	9.900000e-01	1
KCNN4	3783	broad.mit.edu	37	19	44285001	44285001	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44285001G>A	ENST00000262888.3	-	1	408	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4			15		Prostate(69;0.0352)		Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCAAGCACCAGATCCCCGCCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000262888.3	0	1	hg19	CCDS12630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	0	0	0	12	527	0	109	1	3.761149e-01	6	49	0	109	2		0	0	0	0	0	2	1	9.989445e-01	12	510	0	107	2								-10.310360	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.270000	0.140000	1.000000	0.260000	0.340682	0.270000	0	2.000000e-01	3.900000e-01
CHAF1A	10036	broad.mit.edu	37	19	4429469	4429469	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4429469G>A	ENST00000301280.5	+	9	1740	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)			27		Hepatocellular(1079;0.137)			GAAGGGCGACGGTGTTCCCGA	0.572000								Chromatin Structure																0							SO:0001583	missense			ENST00000301280.5	1	1	hg19	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038125	0.19669	0.0	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.14144	2.53	5.14	1.49	0.22878	.	.	.	.	.	T	0.10594	0.0259	L	0.55481	1.735	0.09310	N	0.999996	P	0.41475	0.751	B	0.26094	0.066	T	0.16988	-1.0384	9	0.87932	D	0	-17.0114	8.1559	0.31169	0.2988:0.0:0.7012:0.0	.	547	Q13111	CAF1A_HUMAN	S	547	ENSP00000301280:G547S	ENSP00000301280:G547S	G	+	1	0	CHAF1A	4380469	0.116000	0.22171	0.004000	0.12327	0.000000	0.00434	1.660000	0.37397	0.386000	0.24997	-0.237000	0.12165	GGT		TCGA-IB-7651-01A-11D-2154-08	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	1	60	325	0	60	1	7.040432e-01	3	12	0	60	2		0	0	0	0	0	2	1	1	61	318	0	58	2								-2.805923	1	1	121412	48	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHAF1A	10036	broad.mit.edu	37	19	4432089	4432089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432089C>T	ENST00000301280.5	+	12	2189	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)			27		Hepatocellular(1079;0.137)			ACAGAGACTGCGCAGGCGATG	0.637000								Chromatin Structure																0							SO:0001819	synonymous_variant			ENST00000301280.5	1	1	hg19	CCDS32875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	0	102	384	0	83	1	9.972762e-01	8	28	0	83	2		0	0	0	0	0	2	1	1	102	377	0	82	2								-3.571860	1	0	121412	1	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHAF1A	10036	broad.mit.edu	37	19	4432123	4432123	+	Missense_Mutation	SNP	G	G	A	rs45499793	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432123G>A	ENST00000301280.5	+	12	2223	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)			27		Hepatocellular(1079;0.137)			GCAGCAGTTCGCAGCCTGCTT	0.657000								Chromatin Structure																0							SO:0001583	missense			ENST00000301280.5	0	1	hg19	CCDS32875.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.829	0.154086	0.09185	2.27E-4	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25250	1.81	4.84	-9.69	0.00524	.	.	.	.	.	T	0.05640	0.0148	N	0.04203	-0.255	0.09310	N	1	P	0.41008	0.735	B	0.20184	0.028	T	0.39663	-0.9603	9	0.87932	D	0	-1.689	2.3987	0.04396	0.2251:0.1073:0.4111:0.2565	rs45499793	708	Q13111	CAF1A_HUMAN	T	708	ENSP00000301280:A708T	ENSP00000301280:A708T	A	+	1	0	CHAF1A	4383123	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-0.241000	0.08940	-2.159000	0.00787	-0.857000	0.03018	GCA		TCGA-IB-7651-01A-11D-2154-08	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	0	29	290	1	53	1	3.033814e-01	8	31	1	53	5		0	0	0	0	0	2	1	9.487327e-01	29	289	1	53	19								-9.929854	1	0	121410	87	50	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.966738	0.990000	1	9.000000e-01	1
CHAF1A	10036	broad.mit.edu	37	19	4433183	4433183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4433183C>T	ENST00000301280.5	+	13	2421	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)			27		Hepatocellular(1079;0.137)			CGGCAGCCCGCGGAGCCCCTC	0.662000								Chromatin Structure																0							SO:0001583	missense			ENST00000301280.5	1	1	hg19	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728653	0.15507	.	.	ENSG00000167670	ENST00000301280	T	0.30714	1.52	5.33	1.88	0.25563	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	B	0.35413	0.202	T	0.08391	-1.0724	8	.	.	.	-4.6503	9.9541	0.41655	0.1352:0.5331:0.3317:0.0	.	774	Q13111	CAF1A_HUMAN	W	774	ENSP00000301280:R774W	.	R	+	1	2	CHAF1A	4384183	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	0.106000	0.15354	1.223000	0.43536	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	1	0	1	111	404	0	60	1	9.995829e-01	14	30	0	60	2		0	0	0	0	0	2	1	1	104	399	0	59	2								-3.228885	1	1	121362	3	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF45	7596	broad.mit.edu	37	19	44418337	44418337	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44418337C>T	ENST00000269973.5	-	10	2341	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.Q417Q	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45			17					ATGCATCACACTGATACGGTT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000269973.5	1	1	hg19	CCDS12632.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	1	0	1	81	404	0	91	0	8.684185e-01	0	20	0	91	2		0	0	0	0	0	2	1	1	78	398	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF221	7638	broad.mit.edu	37	19	44470613	44470613	+	Missense_Mutation	SNP	G	G	A	rs140615014		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44470613G>A	ENST00000251269.5	+	6	1287	c.959G>A	c.(958-960)cGt>cAt	p.R320H	ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H|ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221			30		Prostate(69;0.0352)			AAGAGCTTCCGTGTTAGATCA	0.413000																								0							SO:0001583	missense			ENST00000251269.5	1	1	hg19	CCDS12633.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	g	11.78	1.740126	0.30865	2.27E-4	0.0	ENSG00000159905	ENST00000251269	T	0.07567	3.18	2.59	-1.74	0.08056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.21617	0.685	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.43376	-0.9395	9	0.29301	T	0.29	.	4.6045	0.12371	0.2389:0.3438:0.4173:0.0	.	320	Q9UK13	ZN221_HUMAN	H	320	ENSP00000251269:R320H	ENSP00000251269:R320H	R	+	2	0	ZNF221	49162453	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.269000	0.08596	-0.021000	0.14009	0.462000	0.41574	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1	0	0	1	166	738	1	200	0	2.308554e-01	0	5	1	200	2		0	0	0	0	0	2	1	1	161	726	1	198	16								-20.000000	1	1	121412	16	50	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF221	7638	broad.mit.edu	37	19	44471258	44471258	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44471258A>C	ENST00000251269.5	+	6	1932	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T|ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221			30		Prostate(69;0.0352)			AAGCTATACAAATGTGAGCAG	0.433000																								0							SO:0001583	missense			ENST00000251269.5	1	1	hg19	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	a	14.11	2.437523	0.43224	.	.	ENSG00000159905	ENST00000251269	T	0.08458	3.09	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	L	0.49699	1.58	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.04065	-1.0980	9	0.54805	T	0.06	.	7.2124	0.25941	0.7731:0.2269:0.0:0.0	.	535	Q9UK13	ZN221_HUMAN	T	535	ENSP00000251269:K535T	ENSP00000251269:K535T	K	+	2	0	ZNF221	49163098	0.000000	0.05858	0.009000	0.14445	0.233000	0.25261	-0.227000	0.09126	1.319000	0.45190	0.379000	0.24179	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1	1	0	1	95	399	0	115	0	4.050079e-01	1	6	0	115	2		0	0	0	0	0	2	1	1	93	393	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF155	7711	broad.mit.edu	37	19	44501451	44501451	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44501451A>C	ENST00000270014.2	+	5	1570	c.1442A>C	c.(1441-1443)aAa>aCa	p.K481T	ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155			15		Prostate(69;0.0352)			CACTGCCAGAAAAAACCATTC	0.453000													NSCLC(61;554 1277 20909 42067 42312)											0							SO:0001583	missense			ENST00000270014.2	1	1	hg19	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554531	0.45487	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.11277	2.79;2.79	2.83	2.83	0.33086	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	N	0.25380	0.74	0.09310	N	1	P;P	0.42296	0.775;0.605	P;P	0.51297	0.665;0.665	T	0.12811	-1.0533	9	0.87932	D	0	.	10.1978	0.43065	1.0:0.0:0.0:0.0	.	492;481	B4DM95;Q12901	.;ZN155_HUMAN	T	492;481	ENSP00000385163:K492T;ENSP00000270014:K481T	ENSP00000270014:K481T	K	+	2	0	ZNF155	49193291	0.988000	0.35896	0.005000	0.12908	0.083000	0.17756	3.462000	0.53042	1.279000	0.44446	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	1	0	1	143	605	0	147	0	8.107367e-01	0	15	0	147	2		0	0	0	0	0	2	1	1	139	584	0	147	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF230	7773	broad.mit.edu	37	19	44514566	44514566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44514566G>T	ENST00000429154.2	+	5	603	c.375G>T	c.(373-375)caG>caT	p.Q125H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230			22		Prostate(69;0.0352)			TCCCCTCCCAGGTTGAGGCAG	0.438000													GBM(175;914 2069 22996 47111 52600)											0							SO:0001583	missense			ENST00000429154.2	1	1	hg19	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465658	0.26335	.	.	ENSG00000159882	ENST00000429154	T	0.05580	3.42	2.36	1.11	0.20524	.	.	.	.	.	T	0.03871	0.0109	N	0.17345	0.48	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.39901	-0.9591	9	0.36615	T	0.2	.	5.4808	0.16723	0.0:0.0:0.6706:0.3294	.	125	Q9UIE0	ZN230_HUMAN	H	125	ENSP00000409318:Q125H	ENSP00000409318:Q125H	Q	+	3	2	ZNF230	49206406	0.000000	0.05858	0.003000	0.11579	0.608000	0.37181	-0.729000	0.04920	1.299000	0.44798	0.205000	0.17691	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1	1	0	1	68	328	0	108	1	7.872280e-01	7	9	0	108	2		0	0	0	0	0	2	1	1	66	323	0	106	2								-3.356824	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF230	7773	broad.mit.edu	37	19	44515396	44515396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44515396G>A	ENST00000429154.2	+	5	1433	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230			22		Prostate(69;0.0352)			AAGAGCTTTAGCCGGGCTTCA	0.443000													GBM(175;914 2069 22996 47111 52600)											0							SO:0001583	missense			ENST00000429154.2	1	1	hg19	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217466	0.39201	.	.	ENSG00000159882	ENST00000429154	T	0.07567	3.18	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.17474	0.49	0.21499	N	0.999666	B	0.28584	0.216	B	0.28784	0.094	T	0.42849	-0.9427	9	0.20046	T	0.44	.	4.8412	0.13491	0.0:0.236:0.5236:0.2404	.	402	Q9UIE0	ZN230_HUMAN	N	402	ENSP00000409318:S402N	ENSP00000409318:S402N	S	+	2	0	ZNF230	49207236	0.000000	0.05858	0.539000	0.28077	0.880000	0.50808	0.098000	0.15189	1.280000	0.44463	0.205000	0.17691	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1	1	0	1	118	556	0	125	1	7.964624e-01	6	10	0	125	2		0	0	0	0	0	2	1	1	115	549	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBXN6	80700	broad.mit.edu	37	19	4454072	4454072	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4454072C>A	ENST00000301281.6	-	2	226	c.102G>T	c.(100-102)gaG>gaT	p.E34D	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6			12					GGTTGGGCTTCTCTTTGTGGG	0.647000																								0							SO:0001583	missense			ENST00000301281.6	1	1	hg19	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	6.605	0.479950	0.12581	.	.	ENSG00000167671	ENST00000301281	T	0.42513	0.97	4.13	-8.12	0.01078	.	1.423740	0.04598	N	0.397999	T	0.23649	0.0572	L	0.31294	0.92	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.16541	-1.0399	10	0.13470	T	0.59	-2.1917	7.2936	0.26380	0.0:0.4968:0.3083:0.1948	.	34	Q9BZV1	UBXN6_HUMAN	D	34	ENSP00000301281:E34D	ENSP00000301281:E34D	E	-	3	2	UBXN6	4405072	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-1.062000	0.03468	-1.133000	0.02903	0.484000	0.47621	GAG		TCGA-IB-7651-01A-11D-2154-08	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	0	0	0	31	1009	0	134	1	9.431191e-01	10	146	0	134	2		0	0	0	0	0	2	1	1	29	995	0	133	2								-2.684771	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.360000	0.240000	1.000000	0.350000	0.414295	0.360000	0	2.900000e-01	4.500000e-01
UBXN6	80700	broad.mit.edu	37	19	4457633	4457633	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4457633T>C	ENST00000301281.6	-	1	186	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	UBXN6_ENST00000394765.3_5'Flank|CTB-50L17.9_ENST00000592034.1_RNA|CTB-50L17.16_ENST00000591414.1_lincRNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6			12					TTTGAGCTTCTGACCGGGTCC	0.692000																								0							SO:0001583	missense			ENST00000301281.6	0	1	hg19	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	T	8.264	0.811888	0.16537	.	.	ENSG00000167671	ENST00000301281	T	0.42900	0.96	4.03	4.03	0.46877	.	0.410430	0.26612	U	0.023407	T	0.26159	0.0638	L	0.33137	0.985	0.80722	D	1	B	0.24823	0.112	B	0.25140	0.058	T	0.04333	-1.0959	10	0.07482	T	0.82	-14.4097	7.6137	0.28145	0.1898:0.0:0.0:0.8102	.	21	Q9BZV1	UBXN6_HUMAN	R	21	ENSP00000301281:Q21R	ENSP00000301281:Q21R	Q	-	2	0	UBXN6	4408633	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	5.039000	0.64185	1.448000	0.47680	0.477000	0.44152	CAG		TCGA-IB-7651-01A-11D-2154-08	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	1	0	0	15	129	0	18	1	9.995217e-01	23	93	0	18	2		0	0	0	0	0	2	1	9.998777e-01	15	125	0	17	2								-19.997960	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.740000	1.000000	1.000000	0.976479	0.990000	1	9.700000e-01	1
ZNF224	7767	broad.mit.edu	37	19	44605038	44605038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44605038C>T	ENST00000336976.6	+	4	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*	AC084219.3_ENST00000591772.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224			19		Prostate(69;0.0435)			GAAGCTGTATCGAGATGTGAT	0.537000																								0							SO:0001587	stop_gained			ENST00000336976.6	0	1	hg19	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.127151	0.56721	.	.	ENSG00000186019	ENST00000336976;ENST00000269981	.	.	.	2.75	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4372	0.32795	0.2317:0.7683:0.0:0.0	.	.	.	.	X	34	.	ENSP00000269981:R34X	R	+	1	2	ZNF224	49296878	0.001000	0.12720	0.107000	0.21349	0.011000	0.07611	-0.383000	0.07398	1.521000	0.48983	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	1	0	1	185	762	0	211	1	9.892543e-01	5	26	0	211	2		0	0	0	0	0	2	1	1	183	743	0	210	2								-3.521076	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF224	7767	broad.mit.edu	37	19	44612103	44612103	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44612103A>C	ENST00000336976.6	+	6	2044	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224			19		Prostate(69;0.0435)			AAGCCATACAAATGTGATGAG	0.463000																								0							SO:0001583	missense			ENST00000336976.6	1	1	hg19	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	a	13.25	2.180398	0.38511	.	.	ENSG00000186019	ENST00000336976	T	0.18810	2.19	2.93	0.748	0.18376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.52266	1.64	0.09310	N	1	P	0.38729	0.644	B	0.30572	0.117	T	0.16689	-1.0394	9	0.41790	T	0.15	.	3.5138	0.07717	0.5603:0.1998:0.2399:0.0	.	597	Q9NZL3	ZN224_HUMAN	T	597	ENSP00000337368:K597T	ENSP00000337368:K597T	K	+	2	0	ZNF224	49303943	0.000000	0.05858	0.004000	0.12327	0.696000	0.40369	-2.518000	0.00953	-0.024000	0.13941	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	1	0	1	99	360	0	87	1	9.800346e-01	7	18	0	87	2		0	0	0	0	0	2	1	1	99	345	0	86	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF225	7768	broad.mit.edu	37	19	44622685	44622685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44622685T>G	ENST00000262894.6	+	4	473	c.193T>G	c.(193-195)Ttt>Gtt	p.F65V	ZNF225_ENST00000592780.1_Missense_Mutation_p.F65V|ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225			16		Prostate(69;0.0352)|all_neural(266;0.202)			GGAAGAAAAGTTTTGGATGAT	0.428000																								0							SO:0001583	missense			ENST00000262894.6	1	1	hg19	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	T	1.494	-0.553791	0.03996	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.06068	3.35	1.93	-0.787	0.10943	Krueppel-associated box (2);	.	.	.	.	T	0.02304	0.0071	N	0.03268	-0.37	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.48514	-0.9029	9	0.16420	T	0.52	.	4.2847	0.10850	0.0:0.4979:0.0:0.5021	.	65	Q9UK10	ZN225_HUMAN	V	65;29	ENSP00000262894:F65V	ENSP00000262894:F65V	F	+	1	0	ZNF225	49314525	0.540000	0.26410	0.001000	0.08648	0.007000	0.05969	0.479000	0.22228	-0.130000	0.11599	0.454000	0.30748	TTT		TCGA-IB-7651-01A-11D-2154-08	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1	1	0	1	42	211	0	57	1	3.356423e-01	2	5	0	57	2		0	0	0	0	0	2	1	1	41	208	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF225	7768	broad.mit.edu	37	19	44636026	44636026	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636026G>T	ENST00000262894.6	+	5	1539	c.1259G>T	c.(1258-1260)aGa>aTa	p.R420I	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225			16		Prostate(69;0.0352)|all_neural(266;0.202)			TCTCACCAGAGAGCGCACAGT	0.453000																								0							SO:0001583	missense			ENST00000262894.6	1	1	hg19	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619663	0.46736	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.24908	1.83	2.65	-5.3	0.02738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	M	0.71036	2.16	0.09310	N	1	D	0.53462	0.96	P	0.44673	0.457	T	0.07849	-1.0751	9	0.59425	D	0.04	.	4.1269	0.10131	0.2968:0.0:0.3695:0.3337	.	420	Q9UK10	ZN225_HUMAN	I	420;384	ENSP00000262894:R420I	ENSP00000262894:R420I	R	+	2	0	ZNF225	49327866	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.654000	0.01984	-1.272000	0.02427	-0.314000	0.08810	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1	1	0	1	115	448	0	138	0	2.739515e-01	1	4	0	138	2		0	0	0	0	0	2	1	1	113	437	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF225	7768	broad.mit.edu	37	19	44636174	44636174	+	Silent	SNP	G	G	A	rs145291466	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636174G>A	ENST00000262894.6	+	5	1687	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.S469S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225			16		Prostate(69;0.0352)|all_neural(266;0.202)			GCTGGGCCTCGTGTCTTTTGA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000262894.6	1	1	hg19	CCDS46100.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1	1	0	1	99	384	0	83	0	5.790569e-01	0	9	0	83	2		0	0	0	0	0	2	1	1	93	377	0	82	2								-3.255798	1	1	121402	35	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF225	7768	broad.mit.edu	37	19	44636716	44636716	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636716A>C	ENST00000262894.6	+	5	2229	c.1949A>C	c.(1948-1950)aAa>aCa	p.K650T	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	p.K650T(1)		16		Prostate(69;0.0352)|all_neural(266;0.202)			AGTAGAGAAAAACTACTTCAA	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262894.6	1	1	hg19	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036797	0.35893	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.21191	2.02	1.94	0.649	0.17806	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26702	0.0653	M	0.72576	2.205	0.09310	N	1	B	0.19331	0.035	B	0.32980	0.156	T	0.39961	-0.9588	9	0.72032	D	0.01	.	7.5755	0.27933	0.7293:0.2707:0.0:0.0	.	650	Q9UK10	ZN225_HUMAN	T	650;614	ENSP00000262894:K650T	ENSP00000262894:K650T	K	+	2	0	ZNF225	49328556	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.020000	0.12525	0.079000	0.16929	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1	1	0	1	31	176	0	46	0	3.521074e-01	0	8	0	46	2		0	0	0	0	0	2	1	1	30	176	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
ZNF234	10780	broad.mit.edu	37	19	44660497	44660497	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44660497G>T	ENST00000426739.2	+	6	586	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234			23		Prostate(69;0.0435)			GATTGCAAGTGATTTAATCAA	0.448000																								0							SO:0001583	missense			ENST00000426739.2	1	1	hg19	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375262	0.42105	.	.	ENSG00000167380	ENST00000426739	T	0.05996	3.36	3.34	2.28	0.28536	.	.	.	.	.	T	0.10078	0.0247	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.27331	-1.0077	9	0.42905	T	0.14	.	4.1781	0.10362	0.121:0.0:0.648:0.2311	.	110	Q14588	ZN234_HUMAN	Y	110	ENSP00000400878:D110Y	ENSP00000400878:D110Y	D	+	1	0	ZNF226	49352337	0.099000	0.21834	0.017000	0.16124	0.292000	0.27327	0.985000	0.29578	0.960000	0.38005	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2	1	0	1	83	308	0	92	0	6.609868e-01	1	9	0	92	2		0	0	0	0	0	2	1	1	82	302	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF234	10780	broad.mit.edu	37	19	44661008	44661008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44661008G>T	ENST00000426739.2	+	6	1097	c.839G>T	c.(838-840)aGa>aTa	p.R280I	ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234			23		Prostate(69;0.0435)			GAACATCAGAGAATTCATACT	0.418000																								0							SO:0001583	missense			ENST00000426739.2	1	1	hg19	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867374	0.51588	.	.	ENSG00000167380	ENST00000426739	T	0.24908	1.83	3.98	-1.14	0.09741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29458	0.0734	L	0.48986	1.54	0.25986	N	0.982302	D	0.57899	0.981	P	0.54140	0.743	T	0.18241	-1.0343	9	0.42905	T	0.14	.	5.4562	0.16592	0.3579:0.1405:0.5016:0.0	.	280	Q14588	ZN234_HUMAN	I	280	ENSP00000400878:R280I	ENSP00000400878:R280I	R	+	2	0	ZNF226	49352848	0.000000	0.05858	0.260000	0.24451	0.991000	0.79684	-1.281000	0.02802	0.114000	0.18032	0.586000	0.80456	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2	1	0	1	154	613	0	170	1	7.265880e-01	4	8	0	170	2		0	0	0	0	0	2	1	1	152	603	0	169	2								-20.000000	1	1	121378	1	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44680638C>T	ENST00000590089.1	+	7	1590	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226					Prostate(69;0.0352)|all_neural(266;0.202)			CATCTTCAATCCCATCAAAGA	0.443000													Pancreas(115;581 1665 13228 19278 50070)											0							SO:0001583	missense			ENST00000590089.1	1	1	hg19	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122901	0.37436	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08008	3.14;3.14	3.92	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.564716	0.13501	N	0.383210	T	0.21509	0.0518	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02184	-1.1199	10	0.54805	T	0.06	.	12.2773	0.54744	0.1699:0.83:0.0:0.0	.	408	Q9NYT6	ZN226_HUMAN	F	408	ENSP00000336719:S408F;ENSP00000393265:S408F	ENSP00000336719:S408F	S	+	2	0	ZNF226	49372478	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.425000	0.02446	2.201000	0.70794	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1	1	0	1	64	262	0	66	1	7.914482e-01	5	9	0	66	2		0	0	0	0	0	2	1	1	64	260	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF227	7770	broad.mit.edu	37	19	44740976	44740976	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44740976A>C	ENST00000313040.7	+	6	2598	c.2393A>C	c.(2392-2394)aAg>aCg	p.K798T	ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T|ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227			24		Prostate(69;0.0435)			ACTGGTAAAAAGCTTTAGAAA	0.393000																								0							SO:0001583	missense			ENST00000313040.7	1	1	hg19	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723345	0.48728	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.09538	3.11;2.97	4.03	1.91	0.25777	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17789	0.0427	M	0.85630	2.765	0.80722	D	1	B;B;B;B	0.27910	0.084;0.042;0.193;0.084	B;B;B;B	0.32864	0.154;0.07;0.133;0.154	T	0.03095	-1.1073	9	0.87932	D	0	.	8.1488	0.31128	0.8131:0.0:0.1869:0.0	.	719;777;750;798	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	T	798;755;747;777;437	ENSP00000321049:K798T;ENSP00000375823:K747T	ENSP00000321049:K798T	K	+	2	0	ZNF227	49432816	0.199000	0.23386	0.214000	0.23707	0.427000	0.31564	1.410000	0.34691	0.683000	0.31428	0.379000	0.24179	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	1	0	1	33	164	0	36	1	9.774627e-01	3	30	0	36	2		0	0	0	0	0	2	1	1	33	162	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ZNF233	353355	broad.mit.edu	37	19	44778193	44778193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44778193C>T	ENST00000391958.2	+	5	1507	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.G442G	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233			20		Prostate(69;0.0435)|all_neural(266;0.226)			GTGATAAGGGCTTCAGTAAGG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000391958.2	1	1	hg19	CCDS33047.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	1	0	1	82	346	0	89	0	0	0	1	0	89	2		0	0	0	0	0	2	1	1	81	337	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF235	9310	broad.mit.edu	37	19	44791924	44791924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44791924C>A	ENST00000291182.4	-	5	1766	c.1664G>T	c.(1663-1665)aGc>aTc	p.S555I	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235			29		Prostate(69;0.0352)|all_neural(266;0.116)			AAGATTCAAGCTCCAATTGAA	0.443000																								0							SO:0001583	missense			ENST00000291182.4	1	1	hg19	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339720	0.41398	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.37058	1.22	5.04	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000106	T	0.48874	0.1524	M	0.76170	2.325	0.09310	N	0.999994	D;D	0.89917	0.999;1.0	D;D	0.67725	0.953;0.916	T	0.39354	-0.9618	10	0.51188	T	0.08	.	1.762	0.02994	0.1678:0.4886:0.1625:0.1811	.	551;555	Q14590-2;Q14590	.;ZN235_HUMAN	I	555;555;447	ENSP00000291182:S555I	ENSP00000291182:S555I	S	-	2	0	ZNF235	49483764	0.000000	0.05858	0.994000	0.49952	0.919000	0.55068	0.015000	0.13355	1.253000	0.44018	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1	1	0	1	83	340	0	73	0	1.779214e-01	1	3	0	73	2		0	0	0	0	0	2	1	1	82	334	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF235	9310	broad.mit.edu	37	19	44792320	44792320	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44792320C>A	ENST00000291182.4	-	5	1370	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235			29		Prostate(69;0.0352)|all_neural(266;0.116)			AGTGTGAATTCTTTCATGGGC	0.423000																								0							SO:0001583	missense			ENST00000291182.4	1	1	hg19	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940732	0.52972	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.24908	1.83	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000853	T	0.46014	0.1371	M	0.64170	1.965	0.46725	D	0.999174	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.40553	-0.9557	10	0.52906	T	0.07	.	12.5135	0.56019	0.0:0.8298:0.1702:0.0	.	419;423	Q14590-2;Q14590	.;ZN235_HUMAN	I	423;423;345	ENSP00000291182:R423I	ENSP00000291182:R423I	R	-	2	0	ZNF235	49484160	0.000000	0.05858	0.967000	0.41034	0.920000	0.55202	-0.039000	0.12124	2.233000	0.73108	0.462000	0.41574	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1	0	0	0	16	448	0	92	0	7.097824e-02	0	12	0	92	2		0	0	0	0	0	2	1	9.999173e-01	16	434	0	91	2								-15.003420	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.420000	0.240000	1.000000	0.400000	0.474738	0.420000	0	3.200000e-01	5.700000e-01
ZNF229	7772	broad.mit.edu	37	19	44932978	44932978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44932978C>A	ENST00000588931.1	-	6	2411	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Nonsense_Mutation_p.E654*	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229			45		Prostate(69;0.0352)			TTTCCGCACTCTTGGCATCTG	0.498000																								0							SO:0001587	stop_gained			ENST00000588931.1	0	1	hg19	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	38	7.183847	0.98121	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-0.111	0.13576	.	.	.	.	.	.	.	.	.	.	.	0.46981	D	0.999279	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.1241	0.14875	0.165:0.6371:0.0:0.1979	.	.	.	.	X	660	.	ENSP00000291187:E660X	E	-	1	0	ZNF229	49624818	0.000000	0.05858	0.013000	0.15412	0.053000	0.15095	0.147000	0.16202	0.108000	0.17862	-0.208000	0.12717	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	1	0	0	36	632	0	136	0	0	0	1	0	136	2		0	0	0	0	0	2	1	1	36	621	0	136	2								-5.832220	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.650000	0.450000	1.000000	0.630000	0.678869	0.650000	0	5.400000e-01	8.000000e-01
ZNF229	7772	broad.mit.edu	37	19	44934204	44934204	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44934204T>G	ENST00000588931.1	-	6	1185	c.752A>C	c.(751-753)aAa>aCa	p.K251T	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.K245T	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229			45		Prostate(69;0.0352)			TACAGAGTTTTTAATGCAGTC	0.433000																								0							SO:0001583	missense			ENST00000588931.1	1	1	hg19	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	T	8.302	0.820100	0.16678	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.92	1.24	0.21308	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24048	-1.0171	8	0.27082	T	0.32	.	6.3199	0.21213	0.0:0.1102:0.1737:0.716	.	251	Q9UJW7	ZN229_HUMAN	T	251	.	ENSP00000291187:K251T	K	-	2	0	ZNF229	49626044	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.197000	0.09518	0.386000	0.24997	0.496000	0.49642	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	1	0	1	103	381	0	88	0	1.179258e-01	0	3	0	88	2		0	0	0	0	0	2	1	1	100	374	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF180	7733	broad.mit.edu	37	19	44982351	44982351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44982351G>A	ENST00000221327.4	-	5	628	c.347C>T	c.(346-348)gCa>gTa	p.A116V	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V|ZNF180_ENST00000587047.1_3'UTR|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000586637.1_Silent_p.C125C	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180			33		Prostate(69;0.0435)			TTTTCCAACTGCAGTTGCCAA	0.323000													Esophageal Squamous(180;1353 2003 32862 46574 49854)											0							SO:0001583	missense			ENST00000221327.4	1	1	hg19	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	0.365	-0.937103	0.02340	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00776	5.71;5.71	5.16	-1.2	0.09554	Krueppel-associated box (3);	0.363501	0.20122	N	0.098791	T	0.00468	0.0015	N	0.16266	0.395	0.09310	N	1	B;B;B	0.12630	0.006;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.47446	-0.9117	10	0.25106	T	0.35	-1.1964	1.0527	0.01583	0.2778:0.154:0.4105:0.1578	.	91;115;116	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	V	116;91	ENSP00000221327:A116V;ENSP00000375818:A91V	ENSP00000221327:A116V	A	-	2	0	ZNF180	49674191	0.001000	0.12720	0.017000	0.16124	0.043000	0.13939	0.420000	0.21263	0.037000	0.15575	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	1	0	1	44	202	0	53	0	3.712287e-01	1	6	0	53	2		0	0	0	0	0	2	1	1	44	200	0	53	2								-19.999990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM20	125931	broad.mit.edu	37	19	45024580	45024580	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45024580C>T	ENST00000454753.1	-	0	1236							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20			15		Prostate(69;0.0352)			GCATAGGGCCCCGTGTCATTC	0.632000																								0											ENST00000454753.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	0	0	0	53	138	0	35	1	1	37	60	0	35	2		0	0	0	0	0	2	1	1	52	136	0	34	2								-4.856148	1	1	120916	3	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLIN4	729359	broad.mit.edu	37	19	4510584	4510584	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510584C>A	ENST00000301286.3	-	3	3345	c.3346G>T	c.(3346-3348)Ggc>Tgc	p.G1116C		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4			41					TCCTCCCTGCCTGGGGCGGCC	0.657000																								0							SO:0001583	missense			ENST00000301286.3	1	1	hg19	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817730	0.32145	.	.	ENSG00000167676	ENST00000301286	T	0.04706	3.57	3.85	-0.00379	0.14024	.	1.488490	0.04874	N	0.446490	T	0.09730	0.0239	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.34976	-0.9807	10	0.72032	D	0.01	-5.4226	5.6695	0.17715	0.4127:0.401:0.1863:0.0	.	1116	Q96Q06	PLIN4_HUMAN	C	1116	ENSP00000301286:G1116C	ENSP00000301286:G1116C	G	-	1	0	PLIN4	4461584	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	0.117000	0.18138	-0.295000	0.09555	GGC		TCGA-IB-7651-01A-11D-2154-08	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	1	0	1	22	92	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999993e-01	22	89	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
PLIN4	729359	broad.mit.edu	37	19	4510724	4510724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510724C>A	ENST00000301286.3	-	3	3205	c.3206G>T	c.(3205-3207)aGc>aTc	p.S1069I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4			41					CTCTTGGGGGCTCAGGGCAGT	0.642000																								0							SO:0001583	missense			ENST00000301286.3	0	1	hg19	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242739	0.22796	.	.	ENSG00000167676	ENST00000301286	T	0.03689	3.84	2.87	-5.75	0.02384	.	3.138250	0.01171	U	0.006873	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	P	0.35656	0.514	B	0.31016	0.123	T	0.33214	-0.9877	10	0.40728	T	0.16	-0.9643	1.0287	0.01533	0.145:0.1954:0.3066:0.353	.	1069	Q96Q06	PLIN4_HUMAN	I	1069	ENSP00000301286:S1069I	ENSP00000301286:S1069I	S	-	2	0	PLIN4	4461724	.	.	0.000000	0.03702	0.108000	0.19459	.	.	-1.121000	0.02949	0.424000	0.28305	AGC		TCGA-IB-7651-01A-11D-2154-08	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	1	0	0	13	193	0	24	0	0	1	0	0	24	2		0	0	0	0	0	2	1	9.995127e-01	13	188	0	24	2								-16.807430	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.780000	0.430000	1.000000	1.000000	0.782422	0.780000	0	5.800000e-01	1
PVR	5817	broad.mit.edu	37	19	45150592	45150592	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45150592G>A	ENST00000425690.3	+	2	476	c.177G>A	c.(175-177)acG>acA	p.T59T	PVR_ENST00000344956.4_Silent_p.T59T|PVR_ENST00000403059.4_Silent_p.T59T|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.T59T	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor			6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)			TGGAGGTGACGCATGTGTCAC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000425690.3	1	1	hg19	CCDS12640.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	1	0	1	17	80	0	14	1	9.898944e-01	11	28	0	14	2		0	0	0	0	0	2	1	9.999767e-01	16	79	0	14	2								-12.415560	1	1	121390	3	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999738	0.990000	1	9.900000e-01	1
CEACAM16	388551	broad.mit.edu	37	19	45209005	45209005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45209005G>T	ENST00000405314.2	+	4	904	c.807G>T	c.(805-807)caG>caT	p.Q269H	CEACAM16_ENST00000587331.1_Missense_Mutation_p.Q269H|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16			9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)			TCAACGGGCAGGCCCTAAAGA	0.572000																								0							SO:0001583	missense			ENST00000405314.2	1	1	hg19	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614232	0.46631	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.12879	2.64	4.58	1.12	0.20585	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.783384	0.09963	U	0.733215	T	0.11024	0.0269	L	0.37697	1.125	0.22571	N	0.998973	P	0.46656	0.882	B	0.42282	0.382	T	0.22906	-1.0203	10	0.44086	T	0.13	-14.1742	5.1227	0.14869	0.0985:0.0:0.5353:0.3662	.	328	Q2WEN9	CEA16_HUMAN	H	334;269	ENSP00000385576:Q269H	ENSP00000379974:Q334H	Q	+	3	2	CEACAM16	49900845	1.000000	0.71417	0.945000	0.38365	0.864000	0.49448	1.107000	0.31110	0.153000	0.19213	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		1	0	1	61	235	0	54	0	0	1	0	0	54	2		0	0	0	0	0	2	1	1	61	233	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM16	388551	broad.mit.edu	37	19	45213775	45213775	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45213775G>A	ENST00000405314.2	+	6	1372	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	CEACAM16_ENST00000587331.1_Silent_p.G425G|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16			9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)			CAGCCCTGGGGTAACAGCGTG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000405314.2	1	1	hg19	CCDS54278.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		1	0	1	113	503	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	110	494	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLIN5	440503	broad.mit.edu	37	19	4523771	4523771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4523771C>A	ENST00000381848.3	-	8	1241	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5			10					CGGGCAGGGGCTCGGGTCGCT	0.741000																								0							SO:0001583	missense			ENST00000381848.3	1	1	hg19	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	C	4.341	0.062678	0.08388	.	.	ENSG00000214456	ENST00000381848	T	0.13089	2.62	4.62	-2.16	0.07080	.	2.270970	0.03127	U	0.164645	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.28902	-1.0029	10	0.18710	T	0.47	-8.503	1.0071	0.01489	0.1753:0.3071:0.3045:0.213	.	387	Q00G26	PLIN5_HUMAN	D	387	ENSP00000371272:E387D	ENSP00000371272:E387D	E	-	3	2	PLIN5	4474771	0.005000	0.15991	0.085000	0.20634	0.005000	0.04900	-0.067000	0.11579	0.030000	0.15379	-0.350000	0.07774	GAG		TCGA-IB-7651-01A-11D-2154-08	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	1	0	0	85	341	0	62	0	0	1	0	0	62	2		0	0	0	0	0	2	1	1	83	334	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLIN5	440503	broad.mit.edu	37	19	4525690	4525690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4525690G>A	ENST00000381848.3	-	6	755	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5			10					CCTGGGCACGGTGTTTGCTCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000381848.3	1	1	hg19	CCDS42473.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	0	0	1	73	318	0	75	0	5.256844e-01	1	8	0	75	2		0	0	0	0	0	2	1	1	73	311	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL3	602	broad.mit.edu	37	19	45260657	45260657	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45260657C>T	ENST00000164227.5	+	5	1042	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3			10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)			AGCGCGGTGCCGACATCGACG	0.687000			T	IGH@	CLL										Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0							SO:0001819	synonymous_variant			ENST00000164227.5	0	1	hg19	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	4.325	0.059655	0.08339	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.71	-9.42	0.00610	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.1182	2.5814	0.04819	0.1967:0.4096:0.1633:0.2304	.	.	.	.	X	150	.	.	R	+	1	2	BCL3	49952497	0.000000	0.05858	0.087000	0.20705	0.384000	0.30261	-11.547000	0.00003	-3.317000	0.00189	0.305000	0.20034	CGA		TCGA-IB-7651-01A-11D-2154-08	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	1	0	0	5	44	0	12	1	9.911252e-01	8	81	0	12	2		0	0	0	0	0	2	1	9.340860e-01	5	42	0	12	2								-3.165786	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.490000	1.000000	1.000000	0.929987	0.990000	1	8.000000e-01	1
BCL3	602	broad.mit.edu	37	19	45262730	45262730	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45262730C>A	ENST00000164227.5	+	9	1467	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3			10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)			CAGTCTCCCCCCAGGGACCCC	0.627000			T	IGH@	CLL										Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0							SO:0001583	missense			ENST00000164227.5	1	1	hg19	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650273	0.47362	.	.	ENSG00000069399	ENST00000164227	T	0.41758	0.99	4.5	3.46	0.39613	.	0.284212	0.25344	N	0.031353	T	0.31482	0.0798	L	0.27053	0.805	0.28683	N	0.904996	P	0.45283	0.855	B	0.43536	0.423	T	0.21655	-1.0239	10	0.66056	D	0.02	-0.612	9.4966	0.38993	0.0:0.8948:0.0:0.1052	.	408	P20749	BCL3_HUMAN	H	408	ENSP00000164227:P408H	ENSP00000164227:P408H	P	+	2	0	BCL3	49954570	0.972000	0.33761	0.991000	0.47740	0.913000	0.54294	1.116000	0.31221	2.022000	0.59522	0.491000	0.48974	CCC		TCGA-IB-7651-01A-11D-2154-08	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	0	0	0	85	2168	1	426	1	9.224849e-01	10	178	1	426	4		0	0	0	0	0	2	1	1	82	2065	1	419	18								-3.630395	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.450000	0.350000	1.000000	0.440000	0.495924	0.450000	0	4.000000e-01	5.200000e-01
CBLC	23624	broad.mit.edu	37	19	45287578	45287578	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45287578C>T	ENST00000270279.3	+	5	900	c.837C>T	c.(835-837)agC>agT	p.S279S	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase			17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)			GCTATGTGAGCTCAGATGGCA	0.597000			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0							SO:0001819	synonymous_variant			ENST00000270279.3	1	1	hg19	CCDS12643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	1	0	1	13	284	0	68	1	8.503244e-01	7	70	0	68	2		0	0	0	0	0	2	1	9.994661e-01	13	275	0	68	2								-4.311169	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.540000	0.300000	1.000000	0.500000	0.583313	0.540000	0	4.000000e-01	7.500000e-01
BCAM	4059	broad.mit.edu	37	19	45322676	45322676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45322676G>A	ENST00000270233.6	+	12	1569	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	BCAM_ENST00000589651.1_Missense_Mutation_p.S516N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)			22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)			AGCGCCCTGAGCCGCGATGGC	0.652000																								0							SO:0001583	missense			ENST00000270233.6	1	1	hg19	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.302032	0.40694	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.14266	2.52;2.52	4.27	3.1	0.35709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12603	0.0306	L	0.37630	1.12	0.23727	N	0.997001	P	0.37914	0.611	B	0.42882	0.401	T	0.14282	-1.0478	9	0.13853	T	0.58	-21.7405	9.1554	0.36990	0.0:0.2943:0.7057:0.0	.	516	P50895	BCAM_HUMAN	N	516	ENSP00000270233:S516N;ENSP00000375817:S516N	ENSP00000270233:S516N	S	+	2	0	BCAM	50014516	0.979000	0.34478	0.998000	0.56505	0.778000	0.44026	1.369000	0.34227	2.117000	0.64856	0.538000	0.68166	AGC		TCGA-IB-7651-01A-11D-2154-08	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	1	0	1	130	516	0	109	1	1	79	192	0	109	2		0	0	0	0	0	2	1	1	129	510	0	107	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRG1	116844	broad.mit.edu	37	19	4538016	4538016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4538016G>A	ENST00000306390.6	-	2	1440	c.980C>T	c.(979-981)aCg>aTg	p.T327M	PLIN5_ENST00000381848.3_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000586133.1_5'Flank|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1			13		Hepatocellular(1079;0.137)			AGCACAGCGCGTGTCATTCTG	0.592000																								0							SO:0001583	missense			ENST00000306390.6	1	1	hg19	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883464	0.51908	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02446	4.29	5.15	5.15	0.70609	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41097	D	0.000958	T	0.12944	0.0314	M	0.72479	2.2	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.01675	-1.1298	10	0.49607	T	0.09	-19.7871	13.9796	0.64297	0.0:0.0:1.0:0.0	.	327	P02750	A2GL_HUMAN	M	327;310	ENSP00000302621:T327M	ENSP00000302621:T327M	T	-	2	0	LRG1	4489016	0.378000	0.25114	0.093000	0.20910	0.042000	0.13812	3.111000	0.50360	2.685000	0.91497	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	1	0	1	58	291	0	56	1	1	28	103	0	56	2		0	0	0	0	0	2	1	1	55	287	0	55	2								-20.000000	1	1	121412	3	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PVRL2	5819	broad.mit.edu	37	19	45391366	45391366	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45391366G>T	ENST00000252483.5	+	9	1347		c.e9-1		CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)			13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)			TCTACCTCCAGGAAATGCCTC	0.572000																								0							SO:0001630	splice_region_variant			ENST00000252483.5	1	1	hg19	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268218	0.59540	.	.	ENSG00000130202	ENST00000252483	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5417	0.61679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PVRL2	50083206	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.858000	0.62947	2.659000	0.90383	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	1	0	1	69	286	0	63	1	2.553146e-01	5	0	0	63	2		0	0	0	0	0	2	1	1	67	281	0	62	2								-3.251228	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOE	348	broad.mit.edu	37	19	45412285	45412285	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412285C>T	ENST00000252486.4	+	4	843	c.732C>T	c.(730-732)cgC>cgT	p.R244R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E			4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCGGACCCGCGACCGCCTGG	0.746000																								0							SO:0001819	synonymous_variant			ENST00000252486.4	0	1	hg19	CCDS12647.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	1	0	0	7	35	0	10	1	1	8	1530	0	10	2		0	0	0	0	0	2	1	9.838383e-01	7	35	0	9	2								-15.283220	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.991065	0.990000	1	9.900000e-01	1
APOE	348	broad.mit.edu	37	19	45412290	45412290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412290G>A	ENST00000252486.4	+	4	848	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E			4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCGCGACCGCCTGGACGAG	0.751000																								0							SO:0001583	missense			ENST00000252486.4	0	1	hg19	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921081	0.33908	.	.	ENSG00000130203	ENST00000252486	T	0.74002	-0.8	4.73	-3.36	0.04913	Apolipoprotein/apolipophorin (1);	0.559596	0.15717	N	0.248099	T	0.50956	0.1646	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.28808	-1.0032	10	0.36615	T	0.2	-16.8511	1.0706	0.01620	0.3691:0.237:0.2591:0.1349	.	246	P02649	APOE_HUMAN	H	246	ENSP00000252486:R246H	ENSP00000252486:R246H	R	+	2	0	APOE	50104130	0.334000	0.24739	0.709000	0.30452	0.804000	0.45430	0.487000	0.22356	-0.086000	0.12550	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	0	0	0	5	44	0	9	1	1	4	1670	0	9	2		0	0	0	0	0	2	1	9.409870e-01	5	44	0	8	2								-10.861360	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.490000	1.000000	1.000000	0.929987	0.990000	1	8.000000e-01	1
CLPTM1	1209	broad.mit.edu	37	19	45489787	45489787	+	Silent	SNP	C	C	T	rs11541460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45489787C>T	ENST00000337392.5	+	7	897	c.747C>T	c.(745-747)gaC>gaT	p.D249D	CLPTM1_ENST00000541297.2_Silent_p.D235D|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.D147D	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1			23		all_neural(266;0.224)|Ovarian(192;0.231)			TCGTGGACGACCACACGCCGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000337392.5	1	1	hg19	CCDS12651.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	1	0	0	68	348	0	91	1	1	136	393	0	91	2		0	0	0	0	0	2	1	1	68	342	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLPTM1	1209	broad.mit.edu	37	19	45490528	45490528	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45490528C>T	ENST00000337392.5	+	8	1035	c.885C>T	c.(883-885)aaC>aaT	p.N295N	CLPTM1_ENST00000541297.2_Silent_p.N281N|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.N193N	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1			23		all_neural(266;0.224)|Ovarian(192;0.231)			ACCCCATCAACGAGAGCCTGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000337392.5	1	1	hg19	CCDS12651.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	1	0	0	177	835	0	173	1	1	155	403	0	173	2		0	0	0	0	0	2	1	1	174	822	0	170	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLPTM1	1209	broad.mit.edu	37	19	45496135	45496135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45496135G>A	ENST00000337392.5	+	14	2140	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	CLPTM1_ENST00000541297.2_Missense_Mutation_p.E650K|CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1			23		all_neural(266;0.224)|Ovarian(192;0.231)			AAAGCCAGCAGAGGACAAGAA	0.687000																								0							SO:0001583	missense			ENST00000337392.5	1	1	hg19	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306244	0.60305	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392	.	.	.	5.11	2.96	0.34315	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.27186	N	0.960542	B;B	0.11235	0.0;0.004	B;B	0.09377	0.003;0.004	T	0.15378	-1.0439	8	0.42905	T	0.14	.	7.1091	0.25380	0.0916:0.1721:0.7363:0.0	.	650;664	F5H8J3;O96005	.;CLPT1_HUMAN	K	562;650;664	.	ENSP00000336994:E664K	E	+	1	0	CLPTM1	50187975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.229000	0.51278	0.737000	0.32582	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	1	0	0	13	262	0	40	1	9.992390e-01	18	233	0	40	2		0	0	0	0	0	2	1	9.995240e-01	13	258	0	39	2								-3.239941	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.580000	0.320000	1.000000	0.550000	0.622096	0.580000	0	4.400000e-01	8.100000e-01
ZNF296	162979	broad.mit.edu	37	19	45575632	45575632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45575632G>A	ENST00000303809.2	-	3	869	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296			7					CTTGCACGGGGGCTCTTGGCC	0.682000																								0							SO:0001583	missense			ENST00000303809.2	1	1	hg19	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345298	0.05208	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.05580	3.42	5.51	-8.85	0.00799	.	1.219780	0.05723	N	0.598054	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.42172	-0.9467	10	0.45353	T	0.12	-2.9278	1.5955	0.02663	0.436:0.1057:0.2429:0.2154	.	219	Q8WUU4	ZN296_HUMAN	S	219;195	ENSP00000302770:P219S	ENSP00000302770:P219S	P	-	1	0	ZNF296	50267472	0.926000	0.31397	0.000000	0.03702	0.154000	0.21943	2.041000	0.41213	-1.687000	0.01437	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	1	0	1	108	328	0	61	0	5.508100e-01	1	6	0	61	2		0	0	0	0	0	2	1	1	108	322	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA6B	10501	broad.mit.edu	37	19	4558383	4558383	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4558383C>T	ENST00000586582.1	-	2	397	c.87G>A	c.(85-87)gaG>gaA	p.E29E	SEMA6B_ENST00000301293.3_Silent_p.E29E|SEMA6B_ENST00000586965.1_Silent_p.E29E	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B			21		Hepatocellular(1079;0.137)			GCGGCGGCTCCTCAGGAAAGA	0.711000											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000586582.1	0	1	hg19	CCDS12131.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	1	0	0	9	32	0	8	0	9.102232e-01	1	17	0	8	2		0	0	0	0	0	2	1	9.954909e-01	9	31	0	8	2								-18.938940	1	1	114610	2	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998598	0.990000	1	9.900000e-01	1
TRAPPC6A	79090	broad.mit.edu	37	19	45668402	45668402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45668402G>A	ENST00000585934.1	-	2	153	c.135C>T	c.(133-135)ggC>ggT	p.G45G	TRAPPC6A_ENST00000006275.4_Silent_p.G59G|TRAPPC6A_ENST00000592647.1_Intron|TRAPPC6A_ENST00000588062.1_Intron	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A			8		all_neural(266;0.224)|Ovarian(192;0.231)			CTAGAGCCTGGCCCACACGGA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000585934.1	1	1	hg19	CCDS59397.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	1	0	1	22	84	0	17	1	1	16	142	0	17	2		0	0	0	0	0	2	1	9.999994e-01	22	82	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
MARK4	57787	broad.mit.edu	37	19	45762366	45762366	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45762366C>T	ENST00000262891.4	+	2	502	c.171C>T	c.(169-171)ggC>ggT	p.G57G	MARK4_ENST00000300843.4_Silent_p.G57G	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4			31		all_neural(266;0.224)|Ovarian(192;0.231)			CCCACGTGGGCAACTACCGCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000262891.4	1	1	hg19	CCDS56097.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	1	0	1	28	172	0	45	1	9.999684e-01	15	89	0	45	2		0	0	0	0	0	2	1	1	28	170	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999736	0.990000	1	9.900000e-01	1
MARK4	57787	broad.mit.edu	37	19	45774951	45774951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45774951C>T	ENST00000262891.4	+	8	1102	c.771C>T	c.(769-771)gaC>gaT	p.D257D	MARK4_ENST00000300843.4_Silent_p.D257D	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4			31		all_neural(266;0.224)|Ovarian(192;0.231)			TGCCCTTCGACGGGCACAACC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000262891.4	1	1	hg19	CCDS56097.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	1	0	1	99	383	0	93	1	9.999998e-01	18	69	0	93	2		0	0	0	0	0	2	1	1	97	369	0	87	2								-20.000000	1	0	121406	2	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARK4	57787	broad.mit.edu	37	19	45781209	45781209	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45781209A>C	ENST00000262891.4	+	9	1146	c.815A>C	c.(814-816)aAg>aCg	p.K272T	MARK4_ENST00000300843.4_Missense_Mutation_p.K272T	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4			31		all_neural(266;0.224)|Ovarian(192;0.231)			CTCAGAGGGAAGTACCGGGTC	0.577000																								0							SO:0001583	missense			ENST00000262891.4	1	1	hg19	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356875	0.82243	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.66638	-0.22;-0.22	4.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	N	0.11284	0.12	0.80722	D	1	P;P;P	0.40066	0.701;0.518;0.462	D;P;P	0.64410	0.925;0.825;0.732	T	0.71988	-0.4426	10	0.87932	D	0	.	11.5216	0.50553	1.0:0.0:0.0:0.0	.	138;272;272	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	T	302;272;272	ENSP00000262891:K272T;ENSP00000300843:K272T	ENSP00000262891:K272T	K	+	2	0	MARK4	50473049	1.000000	0.71417	0.967000	0.41034	0.974000	0.67602	8.993000	0.93524	1.906000	0.55180	0.379000	0.24179	AAG		TCGA-IB-7651-01A-11D-2154-08	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	1	0	1	69	323	0	57	1	9.999993e-01	15	83	0	57	2		0	0	0	0	0	2	1	1	68	310	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARK4	57787	broad.mit.edu	37	19	45805679	45805679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805679G>A	ENST00000262891.4	+	17	2301	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	MARK4_ENST00000300843.4_Missense_Mutation_p.D684N	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4			31		all_neural(266;0.224)|Ovarian(192;0.231)			CGGCTGCTCCGATTCCCCTGG	0.652000																								0							SO:0001583	missense			ENST00000262891.4	1	1	hg19	CCDS56097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.997807|3.997807	0.74818|0.74818	.|.	.|.	ENSG00000007047|ENSG00000007047	ENST00000300843|ENST00000262891	T|T	0.72051|0.53206	-0.62|0.63	5.4|5.4	4.35|4.35	0.52113|0.52113	.|Kinase-associated KA1 (2);	.|0.106561	.|0.40728	.|N	.|0.001033	T|T	0.51941|0.51941	0.1704|0.1704	M|M	0.72894|0.72894	2.215|2.215	0.26359|0.26359	N|N	0.977081|0.977081	D|D	0.56746|0.61080	0.977|0.989	P|P	0.46510|0.45377	0.519|0.478	T|T	0.55159|0.55159	-0.8184|-0.8184	9|10	0.87932|0.87932	D|D	0|0	.|.	14.0502|14.0502	0.64732|0.64732	0.0:0.1519:0.8481:0.0|0.0:0.1519:0.8481:0.0	.|.	684|657	Q96L34-2|Q96L34	.|MARK4_HUMAN	N|Q	684|657	ENSP00000300843:D684N|ENSP00000262891:R657Q	ENSP00000300843:D684N|ENSP00000262891:R657Q	D|R	+|+	1|2	0|0	MARK4|MARK4	50497519|50497519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.044000|7.044000	0.76578|0.76578	1.254000|1.254000	0.44035|0.44035	0.563000|0.563000	0.77884|0.77884	GAT|CGA		TCGA-IB-7651-01A-11D-2154-08	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	1	0	1	248	1120	0	252	1	9.916084e-01	11	24	0	252	2		0	0	0	0	0	2	1	1	248	1111	0	246	2								-3.240712	1	0	121412	1	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARK4	57787	broad.mit.edu	37	19	45805761	45805761	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805761C>A	ENST00000262891.4	+	17	2383	c.2052C>A	c.(2050-2052)gcC>gcA	p.A684A	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4			31		all_neural(266;0.224)|Ovarian(192;0.231)			CAGCAGCCGCCCGCTGCCGCT	0.736000																								0							SO:0001819	synonymous_variant			ENST00000262891.4	0	1	hg19	CCDS56097.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	0	0	0	19	524	0	56	0	1.677372e-01	0	20	0	56	2		0	0	0	0	0	2	1	9.999850e-01	21	493	0	55	2								-17.811860	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.430000	0.260000	1.000000	0.410000	0.477658	0.430000	0	3.300000e-01	5.700000e-01
CKM	1158	broad.mit.edu	37	19	45810739	45810739	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45810739C>T	ENST00000221476.3	-	7	1121	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle			17		Ovarian(192;0.0336)|all_neural(266;0.112)		Creatine(DB00148)	CTTCTGCAGACGCAGGCGGGT	0.637000																								0							SO:0001583	missense			ENST00000221476.3	1	1	hg19	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834522	0.91036	.	.	ENSG00000104879	ENST00000221476	T	0.23754	1.89	5.3	5.3	0.74995	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.050664	0.85682	N	0.000000	T	0.52484	0.1737	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.53774	-0.8391	10	0.51188	T	0.08	-38.8761	16.4485	0.83972	0.0:1.0:0.0:0.0	.	316	P06732	KCRM_HUMAN	H	316	ENSP00000221476:R316H	ENSP00000221476:R316H	R	-	2	0	CKM	50502579	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.049000	0.71053	2.500000	0.84329	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1	1	0	0	12	120	0	34	1	1.459386e-01	2	5	0	34	2		0	0	0	0	0	2	1	9.989718e-01	11	114	0	33	2								-18.005360	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.610000	1.000000	1.000000	0.940305	0.990000	1	8.300000e-01	1
CKM	1158	broad.mit.edu	37	19	45821181	45821181	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821181C>A	ENST00000221476.3	-	3	424	c.250G>T	c.(250-252)Gtt>Ttt	p.V84F		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle			17		Ovarian(192;0.0336)|all_neural(266;0.112)		Creatine(DB00148)	TCCTTGAAAACTTCGTAGGAC	0.557000																								0							SO:0001583	missense			ENST00000221476.3	1	1	hg19	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131791	0.56828	.	.	ENSG00000104879	ENST00000221476	T	0.68765	-0.35	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.209227	0.39687	N	0.001295	D	0.84705	0.5531	H	0.97240	3.965	0.80722	D	1	P	0.49559	0.925	P	0.53809	0.735	D	0.90235	0.4282	10	0.87932	D	0	-12.8929	15.0581	0.71930	0.0:1.0:0.0:0.0	.	84	P06732	KCRM_HUMAN	F	84	ENSP00000221476:V84F	ENSP00000221476:V84F	V	-	1	0	CKM	50513021	1.000000	0.71417	0.056000	0.19401	0.042000	0.13812	7.283000	0.78640	2.418000	0.82041	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1	1	0	1	37	201	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	37	194	0	49	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
CKM	1158	broad.mit.edu	37	19	45821219	45821219	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821219G>T	ENST00000221476.3	-	3	386	c.212C>A	c.(211-213)aCc>aAc	p.T71N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle			17		Ovarian(192;0.0336)|all_neural(266;0.112)		Creatine(DB00148)	GCAGCCCACGGTCATGATGAA	0.602000																								0							SO:0001583	missense			ENST00000221476.3	1	1	hg19	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941778	0.73557	.	.	ENSG00000104879	ENST00000221476	T	0.65549	-0.16	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.057508	0.64402	D	0.000001	T	0.72003	0.3407	M	0.89601	3.045	0.46678	D	0.999158	B	0.33198	0.401	B	0.38655	0.278	T	0.75886	-0.3159	10	0.45353	T	0.12	-32.8407	15.0581	0.71930	0.0:0.0:1.0:0.0	.	71	P06732	KCRM_HUMAN	N	71	ENSP00000221476:T71N	ENSP00000221476:T71N	T	-	2	0	CKM	50513059	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.215000	0.95146	2.418000	0.82041	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1	1	0	1	29	174	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	28	167	0	46	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999834	0.990000	1	9.900000e-01	1
ERCC2	2068	broad.mit.edu	37	19	45867704	45867704	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45867704G>T	ENST00000391945.4	-	8	773	c.696C>A	c.(694-696)gtC>gtA	p.V232V	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Silent_p.V154V|ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000485403.2_Silent_p.V208V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2			9		Ovarian(192;0.0728)|all_neural(266;0.112)			CCTCGTCGAAGACCACGACGG	0.632000			Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000391945.4	1	1	hg19	CCDS33049.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	1	0	1	29	172	0	28	1	9.553792e-01	9	24	0	28	2		0	0	0	0	0	2	1	1	29	167	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999857	0.990000	1	9.900000e-01	1
PPP1R13L	10848	broad.mit.edu	37	19	45885941	45885941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like			26		all_neural(266;0.224)|Ovarian(192;0.231)			CCCAGAGAGCGTACACTGCCC	0.662000													Pancreas(61;1447 1663 31419 50578)											0							SO:0001819	synonymous_variant			ENST00000418234.2	1	1	hg19	CCDS33050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	1	0	1	58	236	0	48	1	9.999988e-01	34	51	0	48	2		0	0	0	0	0	2	1	1	57	233	0	48	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R13L	10848	broad.mit.edu	37	19	45888926	45888926	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45888926C>T	ENST00000418234.2	-	11	2220	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like			26		all_neural(266;0.224)|Ovarian(192;0.231)			CAGCGCCGTGCTGCACCAGCG	0.662000													Pancreas(61;1447 1663 31419 50578)											0							SO:0001819	synonymous_variant			ENST00000418234.2	1	1	hg19	CCDS33050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	1	0	1	40	213	0	35	1	1	48	113	0	35	2		0	0	0	0	0	2	1	1	39	212	0	35	2								-20.000000	1	1	121192	1	27	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PPP1R13L	10848	broad.mit.edu	37	19	45889369	45889369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45889369C>T	ENST00000418234.2	-	9	1963	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like			26		all_neural(266;0.224)|Ovarian(192;0.231)			AGGAGGAGCACCAGAGGGTTG	0.736000													Pancreas(61;1447 1663 31419 50578)											0							SO:0001583	missense			ENST00000418234.2	0	1	hg19	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052486	0.55218	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58060	0.36;0.36	4.99	4.99	0.66335	Src homology-3 domain (1);Ankyrin repeat-containing domain (2);	0.197616	0.44285	D	0.000463	T	0.55940	0.1952	N	0.19112	0.55	0.42107	D	0.991363	D;D	0.71674	0.998;0.997	P;P	0.61800	0.894;0.886	T	0.62291	-0.6885	10	0.87932	D	0	.	15.8232	0.78676	0.0:1.0:0.0:0.0	.	629;208	Q8WUF5;A7YME7	IASPP_HUMAN;.	M	629;629;203	ENSP00000403902:V629M;ENSP00000354218:V629M	ENSP00000221478:V203M	V	-	1	0	PPP1R13L	50581209	1.000000	0.71417	0.994000	0.49952	0.718000	0.41266	5.135000	0.64777	2.601000	0.87937	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	0	0	1	7	48	0	11	1	7.681270e-01	7	14	0	11	2		0	0	0	0	0	2	1	9.818487e-01	7	47	0	11	2								-14.404260	1	1	119088	1	18	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.690000	1.000000	1.000000	0.975916	0.990000	1	9.900000e-01	1
ERCC1	2067	broad.mit.edu	37	19	45918173	45918173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45918173C>T	ENST00000300853.3	-	7	1239	c.648G>A	c.(646-648)gaG>gaA	p.E216E	ERCC1_ENST00000340192.7_Silent_p.E216E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000589165.1_Silent_p.E216E	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1			15		Ovarian(192;0.051)|all_neural(266;0.112)			CTGGTTTCTGCTCATAGGCCT	0.602000								Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000300853.3	1	1	hg19	CCDS12662.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	1	0	1	45	276	0	71	1	1	118	295	0	71	2		0	0	0	0	0	2	1	1	43	271	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
ERCC1	2067	broad.mit.edu	37	19	45924573	45924573	+	Missense_Mutation	SNP	C	C	T	rs150584960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45924573C>T	ENST00000300853.3	-	3	775	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000591636.1_Missense_Mutation_p.E62K|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1			15		Ovarian(192;0.051)|all_neural(266;0.112)			ATGGCATATTCGGCGTAGGTC	0.642000								Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000300853.3	1	1	hg19	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548848	0.45383	2.27E-4	0.0	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000013807	T;T;T	0.44083	0.95;0.95;0.93	4.78	4.78	0.61160	.	0.247214	0.38272	N	0.001752	T	0.30448	0.0765	L	0.27053	0.805	0.32274	N	0.568456	D;P;D	0.59357	0.985;0.94;0.957	B;B;B	0.43155	0.41;0.269;0.225	T	0.26360	-1.0105	10	0.19147	T	0.46	-33.5429	13.6581	0.62349	0.0:1.0:0.0:0.0	.	62;62;62	Q7Z7F5;Q96S40;P07992	.;.;ERCC1_HUMAN	K	62	ENSP00000300853:E62K;ENSP00000345203:E62K;ENSP00000013807:E62K	ENSP00000013807:E62K	E	-	1	0	ERCC1	50616413	0.950000	0.32346	0.932000	0.37286	0.053000	0.15095	2.455000	0.44988	2.372000	0.80975	0.491000	0.48974	GAA		TCGA-IB-7651-01A-11D-2154-08	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	1	0	1	82	368	0	77	1	1	61	239	0	77	2		0	0	0	0	0	2	1	1	80	358	0	77	2								-2.929387	1	1	121412	4	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTN2	6253	broad.mit.edu	37	19	45991740	45991740	+	Missense_Mutation	SNP	G	G	A	rs140876163	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45991740G>A	ENST00000245923.4	-	9	1721	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RTN2_ENST00000430715.2_Missense_Mutation_p.R156W|PPM1N_ENST00000401705.1_5'Flank|RTN2_ENST00000590526.1_Missense_Mutation_p.R222W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2			20		Ovarian(192;0.051)|all_neural(266;0.112)			TGGTGCTGCCGGTACAGCAGG	0.567000																								0							SO:0001583	missense			ENST00000245923.4	1	1	hg19	CCDS12665.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.65	3.866636	0.72065	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.43688	0.94;0.94;0.94	5.58	3.28	0.37604	.	0.243600	0.34411	N	0.003995	T	0.48768	0.1518	L	0.29908	0.895	0.30776	N	0.742524	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	T	0.52351	-0.8587	10	0.87932	D	0	-11.9043	10.3065	0.43683	0.0:0.0:0.6272:0.3728	.	423;496	O75298-2;O75298	.;RTN2_HUMAN	W	423;496;156	ENSP00000345127:R423W;ENSP00000245923:R496W;ENSP00000398178:R156W	ENSP00000245923:R496W	R	-	1	2	RTN2	50683580	0.998000	0.40836	0.993000	0.49108	0.990000	0.78478	0.669000	0.25142	1.314000	0.45095	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1	78	343	0	105	1	1	37	95	0	105	2		0	0	0	0	0	2	1	1	76	336	0	105	2								-2.959838	1	1	121412	2	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTN2	6253	broad.mit.edu	37	19	45992145	45992145	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45992145C>T	ENST00000245923.4	-	7	1576	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	RTN2_ENST00000430715.2_Silent_p.R107R|PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000590526.1_Silent_p.R173R|RTN2_ENST00000344680.4_Silent_p.R374R	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2			20		Ovarian(192;0.051)|all_neural(266;0.112)			GGAAGAAGTGCCGCAGCTGCG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000245923.4	0	1	hg19	CCDS12665.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1	14	58	0	11	1	9.999999e-01	54	111	0	11	2		0	0	0	0	0	2	1	9.998046e-01	14	55	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999669	0.990000	1	9.900000e-01	1
RTN2	6253	broad.mit.edu	37	19	45996450	45996450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45996450C>A	ENST00000245923.4	-	5	1236	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	RTN2_ENST00000430715.2_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000590526.1_Missense_Mutation_p.S60I|RTN2_ENST00000344680.4_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2			20		Ovarian(192;0.051)|all_neural(266;0.112)			GAGTGAGAGGCTGGGGACACC	0.637000																								0							SO:0001583	missense			ENST00000245923.4	1	1	hg19	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835262	0.71373	.	.	ENSG00000125744	ENST00000245923	T	0.48522	0.81	4.42	2.3	0.28687	.	0.963263	0.08459	U	0.942690	T	0.29945	0.0749	N	0.08118	0	0.80722	D	1	P	0.41041	0.736	P	0.44477	0.451	T	0.05338	-1.0891	10	0.21540	T	0.41	-2.4034	6.1929	0.20534	0.0:0.7722:0.0:0.2278	.	334	O75298	RTN2_HUMAN	I	334	ENSP00000245923:S334I	ENSP00000245923:S334I	S	-	2	0	RTN2	50688290	0.995000	0.38212	0.997000	0.53966	0.965000	0.64279	0.486000	0.22340	0.789000	0.33779	0.467000	0.42956	AGC		TCGA-IB-7651-01A-11D-2154-08	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1	184	899	0	208	1	9.994712e-01	8	46	0	208	2		0	0	0	0	0	2	1	1	184	885	1	203	18								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTN2	6253	broad.mit.edu	37	19	45998110	45998110	+	Missense_Mutation	SNP	C	C	T	rs143302045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45998110C>T	ENST00000245923.4	-	3	468	c.233G>A	c.(232-234)cGc>cAc	p.R78H	RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2			20		Ovarian(192;0.051)|all_neural(266;0.112)			TGAATCCCTGCGGCCCCCGGA	0.692000																								0							SO:0001583	missense			ENST00000245923.4	1	1	hg19	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054978	0.55325	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.69040	-0.34;-0.37	5.44	5.44	0.79542	.	0.276624	0.26605	N	0.023450	T	0.73877	0.3643	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.965	T	0.75855	-0.3170	10	0.66056	D	0.02	-16.8413	14.7561	0.69567	0.0:1.0:0.0:0.0	.	78;78	O75298-2;O75298	.;RTN2_HUMAN	H	78	ENSP00000345127:R78H;ENSP00000245923:R78H	ENSP00000245923:R78H	R	-	2	0	RTN2	50689950	1.000000	0.71417	0.949000	0.38748	0.058000	0.15608	2.970000	0.49240	2.561000	0.86390	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1	67	201	0	40	1	9.999909e-01	31	24	0	40	2		0	0	0	0	0	2	1	1	67	192	0	37	2								-4.654481	1	1	121210	1	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPA3	80207	broad.mit.edu	37	19	46087992	46087992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46087992G>T	ENST00000263275.4	-	1	85	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	OPA3_ENST00000323060.3_Missense_Mutation_p.L11M|OPA3_ENST00000544371.1_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)			4		Ovarian(192;0.051)|all_neural(266;0.112)			AAGTATAGCAGCTTCGCCATA	0.622000																								0							SO:0001583	missense			ENST00000263275.4	1	1	hg19	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323742	0.95708	.	.	ENSG00000125741	ENST00000323060;ENST00000263275	D;D	0.89875	-2.58;-2.58	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	D	0.96084	0.8724	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96565	0.9418	10	0.87932	D	0	0.0627	17.8364	0.88699	0.0:0.0:1.0:0.0	.	11;11	Q9H6K4;Q9H6K4-2	OPA3_HUMAN;.	M	11	ENSP00000319817:L11M;ENSP00000263275:L11M	ENSP00000263275:L11M	L	-	1	2	OPA3	50779832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.704000	0.68347	2.884000	0.98904	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1	1	0	1	82	325	0	95	1	9.996533e-01	8	41	0	95	2		0	0	0	0	0	2	1	1	79	321	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR4	2828	broad.mit.edu	37	19	46095003	46095003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46095003G>A	ENST00000323040.4	-	2	1066	c.122C>T	c.(121-123)gCg>gTg	p.A41V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4			23					GCGGTAGGCCGCCCACAGAGC	0.647000													Esophageal Squamous(117;181 1612 1673 14956 42937)											0							SO:0001583	missense			ENST00000323040.4	1	1	hg19	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877137	0.33162	.	.	ENSG00000177464	ENST00000323040	T	0.33216	1.42	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.24353	0.0590	N	0.03999	-0.3	0.42852	D	0.994087	D	0.71674	0.998	P	0.58520	0.84	T	0.05022	-1.0911	10	0.02654	T	1	.	16.0194	0.80472	0.0:0.0:1.0:0.0	.	41	P46093	GPR4_HUMAN	V	41	ENSP00000319744:A41V	ENSP00000319744:A41V	A	-	2	0	GPR4	50786843	0.994000	0.37717	0.993000	0.49108	0.985000	0.73830	2.116000	0.41930	2.365000	0.80145	0.313000	0.20887	GCG		TCGA-IB-7651-01A-11D-2154-08	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	1	0	1	78	370	0	70	0	7.275072e-01	0	14	0	70	2		0	0	0	0	0	2	1	1	77	361	0	69	2								-3.359559	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML2	24139	broad.mit.edu	37	19	46124788	46124788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46124788G>A	ENST00000245925.3	-	10	999	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000587152.1_Missense_Mutation_p.R518W|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000536630.1_Missense_Mutation_p.R464W	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2			31		Ovarian(192;0.179)|all_neural(266;0.224)			AGGACCACCCGCCGATCACGG	0.687000																								0							SO:0001583	missense			ENST00000245925.3	1	1	hg19	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164803	0.57476	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.41758	0.99;0.99;4.95	3.2	0.782	0.18567	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.138361	0.45361	D	0.000373	T	0.56441	0.1985	M	0.65975	2.015	0.36928	D	0.891741	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.989;0.971;0.985	T	0.59794	-0.7387	10	0.62326	D	0.03	-16.0349	8.6541	0.34053	0.0:0.0:0.4052:0.5948	.	317;483;464;317	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	W	464;317;475	ENSP00000442365:R464W;ENSP00000245925:R317W;ENSP00000382503:R475W	ENSP00000245925:R317W	R	-	1	2	EML2	50816628	0.012000	0.17670	0.965000	0.40720	0.891000	0.51852	0.382000	0.20635	0.042000	0.15717	0.195000	0.17529	CGG		TCGA-IB-7651-01A-11D-2154-08	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	1	0	1	92	353	0	67	1	1	25	110	0	67	2		0	0	0	0	0	2	1	1	90	334	0	62	2								-20.000000	1	1	121406	3	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EML2	24139	broad.mit.edu	37	19	46130084	46130084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46130084G>T	ENST00000245925.3	-	8	670	c.620C>A	c.(619-621)gCt>gAt	p.A207D	EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000587152.1_Missense_Mutation_p.A408D|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000536630.1_Missense_Mutation_p.A354D	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2			31		Ovarian(192;0.179)|all_neural(266;0.224)			CACCAATACAGCCTCATTGGA	0.582000																								0							SO:0001583	missense			ENST00000245925.3	0	1	hg19	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285961	0.40394	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.26810	1.71;1.8;4.97	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.181927	0.49305	D	0.000148	T	0.22399	0.0540	N	0.19112	0.55	0.38950	D	0.95832	P;P;B;B;P	0.47409	0.895;0.474;0.181;0.411;0.474	P;B;B;B;B	0.47626	0.552;0.13;0.036;0.075;0.13	T	0.03887	-1.0995	10	0.24483	T	0.36	-14.6841	15.0336	0.71728	0.0:0.0:1.0:0.0	.	207;373;354;365;207	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	D	354;207;408;365	ENSP00000442365:A354D;ENSP00000245925:A207D;ENSP00000382503:A365D	ENSP00000245925:A207D	A	-	2	0	EML2	50821924	1.000000	0.71417	0.943000	0.38184	0.351000	0.29236	7.224000	0.78042	2.397000	0.81536	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	0	0	0	36	150	0	34	1	1	49	72	0	34	2		0	0	0	0	0	2	1	1	36	145	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QPCTL	54814	broad.mit.edu	37	19	46198779	46198779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46198779G>T	ENST00000012049.5	+	3	657	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L	QPCTL_ENST00000366382.4_Intron|SNRPD2_ENST00000587579.1_5'Flank	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like			11		Ovarian(192;0.051)|all_neural(266;0.112)			CCTGGGGCCAGTGGACTTTGG	0.622000																								0							SO:0001583	missense			ENST00000012049.5	0	1	hg19	CCDS12672.1	.	.	.	.	.	.	.	.	.	.	g	0.026	-1.368345	0.01225	.	.	ENSG00000011478	ENST00000012049	T	0.22743	1.94	4.72	-6.65	0.01795	.	0.339445	0.28077	N	0.016700	T	0.03739	0.0106	N	0.03268	-0.37	0.21627	N	0.999617	B	0.02656	0.0	B	0.04013	0.001	T	0.36817	-0.9732	10	0.02654	T	1	-10.4789	0.09	0.00039	0.2793:0.1748:0.2162:0.3297	.	146	Q9NXS2	QPCTL_HUMAN	L	146	ENSP00000012049:V146L	ENSP00000012049:V146L	V	+	1	0	QPCTL	50890619	0.000000	0.05858	0.401000	0.26359	0.357000	0.29423	-0.645000	0.05409	-0.462000	0.06984	-1.248000	0.01517	GTG		TCGA-IB-7651-01A-11D-2154-08	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	0	0	0	17	812	1	136	0	1.409278e-01	1	58	1	136	3		0	0	0	0	0	2	0	3.461289e-01	16	798	1	133	20								-3.102626	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.250000	0.140000	1.000000	0.240000	0.315782	0.250000	0	1.900000e-01	3.400000e-01
QPCTL	54814	broad.mit.edu	37	19	46201906	46201906	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46201906G>A	ENST00000012049.5	+	4	956	c.735G>A	c.(733-735)caG>caA	p.Q245Q	QPCTL_ENST00000366382.4_Silent_p.Q151Q	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like			11		Ovarian(192;0.051)|all_neural(266;0.112)			ACCTGGCCCAGCTCATGGAGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000012049.5	1	1	hg19	CCDS12672.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	1	0	1	44	219	0	43	1	9.999938e-01	30	63	0	43	2		0	0	0	0	0	2	1	1	43	216	0	42	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO46	23403	broad.mit.edu	37	19	46216211	46216211	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46216211C>T	ENST00000317683.3	-	2	676	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46			15		Ovarian(192;0.179)|all_neural(266;0.224)			GGGCTGCCCGCTGTTCCACCA	0.711000																								0							SO:0001819	synonymous_variant			ENST00000317683.3	0	1	hg19	CCDS46116.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	1	0	1	15	59	0	11	1	9.957395e-01	12	28	0	11	2		0	0	0	0	0	2	1	9.999308e-01	15	59	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999830	0.990000	1	9.900000e-01	1
SIX5	147912	broad.mit.edu	37	19	46271482	46271482	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46271482G>A	ENST00000317578.6	-	1	1002	c.621C>T	c.(619-621)tgC>tgT	p.C207C	AC074212.5_ENST00000559756.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000586498.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5			8		Ovarian(192;0.0308)|all_neural(266;0.112)			GCTCCTTGAAGCAGTAGACTG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000317578.6	0	1	hg19	CCDS12673.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	1	0	0	17	95	0	27	1	6.571586e-01	3	11	0	27	2		0	0	0	0	0	2	1	9.999729e-01	15	94	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999079	0.990000	1	9.900000e-01	1
DMPK	1760	broad.mit.edu	37	19	46275971	46275971	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46275971C>A	ENST00000291270.4	-	10	1397	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000595361.1_5'Flank|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000600757.1_Missense_Mutation_p.E429D|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000590076.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase			16		Ovarian(192;0.0308)|all_neural(266;0.112)			GCTGCTCGGCCTCCAGTTCCA	0.632000													Esophageal Squamous(35;307 869 9153 24033 28903)											0							SO:0001583	missense			ENST00000291270.4	1	1	hg19	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	16.24	3.066487	0.55539	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.67523	-0.27;-0.25;-0.27;-0.26;-0.2	3.87	3.87	0.44632	AGC-kinase, C-terminal (1);	0.000000	0.43747	D	0.000539	T	0.69771	0.3148	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;P;D;D	0.76494	0.916;0.734;0.907;0.816;0.615;0.849;0.993;0.999	P;B;P;B;B;B;P;P	0.60415	0.631;0.391;0.59;0.311;0.219;0.386;0.864;0.874	T	0.67898	-0.5551	10	0.35671	T	0.21	.	11.5239	0.50569	0.0:1.0:0.0:0.0	.	419;424;450;419;419;424;466;434	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	D	419;450;424;419;419;434;434;419	ENSP00000401753:E419D;ENSP00000291270:E424D;ENSP00000413417:E419D;ENSP00000345997:E434D;ENSP00000346168:E419D	ENSP00000291270:E424D	E	-	3	2	DMPK	50967811	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	3.471000	0.53107	2.157000	0.67596	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	1	0	0	11	193	0	24	1	9.306267e-01	9	75	0	24	2		0	0	0	0	0	2	1	9.981442e-01	11	187	0	24	2								-13.941050	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.670000	0.350000	1.000000	1.000000	0.696375	0.670000	0	4.900000e-01	9.400000e-01
DMPK	1760	broad.mit.edu	37	19	46280710	46280710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46280710C>T	ENST00000291270.4	-	8	1146	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000600757.1_Missense_Mutation_p.G351S	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase			16		Ovarian(192;0.0308)|all_neural(266;0.112)			CAGTCGAGGCCAAAGAAGAAG	0.622000													Esophageal Squamous(35;307 869 9153 24033 28903)											0							SO:0001583	missense			ENST00000291270.4	1	1	hg19	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.522874	0.85600	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.63	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000255	T	0.46889	0.1416	N	0.12471	0.22	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.993;0.999;0.999;0.998;0.998;1.0;0.999;0.999	T	0.55903	-0.8067	10	0.87932	D	0	.	15.3423	0.74306	0.0:1.0:0.0:0.0	.	341;341;367;341;341;341;388;351	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	S	341;367;341;341;341;351;351;341	ENSP00000401753:G341S;ENSP00000291270:G341S;ENSP00000413417:G341S;ENSP00000345997:G351S;ENSP00000346168:G341S	ENSP00000291270:G341S	G	-	1	0	DMPK	50972550	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.569000	0.60865	2.554000	0.86153	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	1	0	1	55	310	0	72	1	9.956130e-01	3	46	0	72	2		0	0	0	0	0	2	1	1	55	307	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DMPK	1760	broad.mit.edu	37	19	46281440	46281440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281440C>A	ENST00000291270.4	-	6	745	c.620G>T	c.(619-621)gGc>gTc	p.G207V	DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000600757.1_Missense_Mutation_p.G217V	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase			16		Ovarian(192;0.0308)|all_neural(266;0.112)			GCGGATGTGGCCACAGCGGTC	0.607000													Esophageal Squamous(35;307 869 9153 24033 28903)											0							SO:0001583	missense			ENST00000291270.4	1	1	hg19	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.931895	0.92389	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.53	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42294	D	0.000722	T	0.75803	0.3899	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.83025	-0.0165	10	0.87932	D	0	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	207;207;233;207;207;207;254;217	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	V	207;233;207;207;207;217;217;207	ENSP00000401753:G207V;ENSP00000291270:G207V;ENSP00000413417:G207V;ENSP00000345997:G217V;ENSP00000346168:G207V	ENSP00000291270:G207V	G	-	2	0	DMPK	50973280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.564000	0.82326	2.330000	0.79161	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	1	0	1	11	98	0	30	1	9.864763e-01	18	51	0	30	2		0	0	0	0	0	2	1	9.985488e-01	11	97	0	28	2								-17.274930	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.660000	1.000000	1.000000	0.961392	0.990000	1	9.100000e-01	1
DMPK	1760	broad.mit.edu	37	19	46281893	46281893	+	Missense_Mutation	SNP	C	C	A	rs145501208	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281893C>A	ENST00000291270.4	-	5	564	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000600757.1_Missense_Mutation_p.V157F	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase			16		Ovarian(192;0.0308)|all_neural(266;0.112)			TACTCCATGACCAGGTACTGA	0.607000													Esophageal Squamous(35;307 869 9153 24033 28903)											0							SO:0001583	missense			ENST00000291270.4	1	1	hg19	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591925	0.86953	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.84	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38164	N	0.001799	T	0.72676	0.3490	M	0.85299	2.745	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.83275	0.995;0.983;0.983;0.984;0.984;0.99;0.985;0.996	T	0.76553	-0.2917	10	0.87932	D	0	.	10.7964	0.46464	0.0:0.907:0.0:0.093	.	147;147;173;147;147;147;194;157	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	F	147;173;147;147;147;157;157;147	ENSP00000401753:V147F;ENSP00000291270:V147F;ENSP00000413417:V147F;ENSP00000345997:V157F;ENSP00000346168:V147F	ENSP00000291270:V147F	V	-	1	0	DMPK	50973733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.663000	0.61532	1.265000	0.44215	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	1	0	1	24	136	0	36	1	9.956101e-01	10	42	0	36	2		0	0	0	0	0	2	1	9.999998e-01	24	136	0	36	2								-4.136101	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999777	0.990000	1	9.900000e-01	1
SYMPK	8189	broad.mit.edu	37	19	46319807	46319807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46319807G>A	ENST00000245934.7	-	25	3531	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin			45		all_neural(266;0.0299)|Ovarian(192;0.0308)			CTCCAAGATGGTCATGATGGA	0.657000																								0							SO:0001583	missense			ENST00000245934.7	1	1	hg19	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655826	0.47467	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.4	4.4	0.53042	.	0.469052	0.22944	N	0.053758	T	0.40979	0.1139	N	0.14661	0.345	0.39075	D	0.960784	B	0.02656	0.0	B	0.10450	0.005	T	0.42865	-0.9426	9	0.66056	D	0.02	.	12.387	0.55338	0.0:0.0:1.0:0.0	.	1096	Q92797	SYMPK_HUMAN	I	1096	.	ENSP00000245934:T1096I	T	-	2	0	SYMPK	51011647	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.164000	0.58190	2.287000	0.76781	0.555000	0.69702	ACC		TCGA-IB-7651-01A-11D-2154-08	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	1	0	1	40	205	0	42	1	1	41	169	0	42	2		0	0	0	0	0	2	1	1	40	203	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SYMPK	8189	broad.mit.edu	37	19	46332306	46332306	+	Missense_Mutation	SNP	G	G	A	rs146919889	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46332306G>A	ENST00000245934.7	-	14	2151	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin			45		all_neural(266;0.0299)|Ovarian(192;0.0308)			CAGGGAGCCCGAGGCACCTGC	0.642000																								0							SO:0001583	missense			ENST00000245934.7	1	1	hg19	CCDS12676.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.176	1.022306	0.19433	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.94	3.89	0.44902	Armadillo-type fold (1);	0.507425	0.20457	N	0.091966	T	0.28001	0.0690	M	0.65498	2.005	0.20638	N	0.999872	B;B	0.32862	0.138;0.387	B;B	0.19391	0.009;0.025	T	0.12451	-1.0547	9	0.27785	T	0.31	.	10.702	0.45933	0.0:0.0:0.8091:0.1909	.	651;636	Q4LE61;Q92797	.;SYMPK_HUMAN	L	636	.	ENSP00000245934:S636L	S	-	2	0	SYMPK	51024146	0.291000	0.24352	0.062000	0.19696	0.120000	0.20174	3.211000	0.51137	1.081000	0.41110	0.456000	0.33151	TCG		TCGA-IB-7651-01A-11D-2154-08	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	0	0	0	53	508	0	93	1	9.999929e-01	19	145	0	93	2		0	0	0	0	0	2	1	1	52	500	0	93	2								-3.142702	1	1	121410	5	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.850000	1.000000	1.000000	0.987352	0.990000	1	9.800000e-01	1
SYMPK	8189	broad.mit.edu	37	19	46341750	46341750	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46341750G>T	ENST00000245934.7	-	10	1455	c.1211C>A	c.(1210-1212)cCt>cAt	p.P404H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin			45		all_neural(266;0.0299)|Ovarian(192;0.0308)			CGTCAGCAGAGGCTGCAGGAA	0.602000																								0							SO:0001583	missense			ENST00000245934.7	0	1	hg19	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012652	0.75161	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.75	5.75	0.90469	Armadillo-type fold (1);	0.057465	0.64402	D	0.000001	T	0.66157	0.2761	M	0.61703	1.905	0.80722	D	1	P;P	0.51240	0.943;0.612	P;B	0.50617	0.646;0.417	T	0.65809	-0.6078	9	0.45353	T	0.12	.	17.4878	0.87693	0.0:0.0:1.0:0.0	.	419;404	Q4LE61;Q92797	.;SYMPK_HUMAN	H	404	.	ENSP00000245934:P404H	P	-	2	0	SYMPK	51033590	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.615000	0.90920	2.729000	0.93468	0.558000	0.71614	CCT		TCGA-IB-7651-01A-11D-2154-08	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	0	0	0	22	99	1	34	1	9.876014e-01	66	100	1	34	16		0	0	0	0	0	2	1	9.755400e-01	21	98	1	34	12								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
SYMPK	8189	broad.mit.edu	37	19	46345746	46345746	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46345746G>A	ENST00000245934.7	-	9	1093	c.849C>T	c.(847-849)gcC>gcT	p.A283A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin			45		all_neural(266;0.0299)|Ovarian(192;0.0308)			GGGGCAGGTTGGCTGTGAGGA	0.557000																								0							SO:0001630	splice_region_variant			ENST00000245934.7	1	0	hg19	CCDS12676.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	1	0	1	74	358	0	67	1	1	52	181	0	67	2		0	0	0	0	0	2	1	1	72	345	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin			45		all_neural(266;0.0299)|Ovarian(192;0.0308)			CGGGGTGACAGGGTGACAATG	0.582000																								0							SO:0001583	missense			ENST00000245934.7	1	1	hg19	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253472	0.59212	.	.	ENSG00000125755	ENST00000245934	T	0.51325	0.71	5.5	2.29	0.28610	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.57242	0.2040	M	0.63843	1.955	0.41784	D	0.989833	D;P	0.63046	0.992;0.849	D;P	0.65573	0.936;0.811	T	0.52764	-0.8532	10	0.35671	T	0.21	.	7.2308	0.26040	0.335:0.0:0.665:0.0	.	209;194	Q4LE61;Q92797	.;SYMPK_HUMAN	M	194	ENSP00000245934:L194M	ENSP00000245934:L194M	L	-	1	2	SYMPK	51042946	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.346000	0.44027	0.452000	0.26830	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	1	0	1	40	191	0	62	1	1	45	106	0	62	2		0	0	0	0	0	2	1	1	41	186	0	61	2								-3.301032	1	1	121412	1	27	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXA3	3171	broad.mit.edu	37	19	46376245	46376245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46376245G>A	ENST00000302177.2	+	2	1179	c.982G>A	c.(982-984)Ggg>Agg	p.G328R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3			13		Ovarian(192;0.0308)|all_neural(266;0.0476)			TGGGGGCTACGGGGCTGAAGG	0.562000																								0							SO:0001583	missense			ENST00000302177.2	1	1	hg19	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922531	0.52653	0.0	1.16E-4	ENSG00000170608	ENST00000302177	D	0.91894	-2.93	4.53	4.53	0.55603	.	0.524241	0.19272	N	0.118370	D	0.94450	0.8214	L	0.52573	1.65	0.44462	D	0.99739	D	0.89917	1.0	D	0.80764	0.994	D	0.94693	0.7876	10	0.87932	D	0	.	15.1292	0.72507	0.0:0.0:1.0:0.0	.	328	P55318	FOXA3_HUMAN	R	328	ENSP00000304004:G328R	ENSP00000304004:G328R	G	+	1	0	FOXA3	51068085	1.000000	0.71417	0.672000	0.29872	0.456000	0.32438	3.948000	0.56660	2.502000	0.84385	0.579000	0.79373	GGG		TCGA-IB-7651-01A-11D-2154-08	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1	1	0	1	23	112	0	28	1	8.874606e-01	18	3	0	28	2		0	0	0	0	0	2	1	9.999996e-01	23	108	0	28	2								-3.327670	1	1	121412	2	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
IRF2BP1	26145	broad.mit.edu	37	19	46389025	46389025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46389025G>T	ENST00000302165.3	-	1	351	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1			4		all_neural(266;0.113)|Ovarian(192;0.127)			CGCCTGCACAGACGCCATGGC	0.731000																								0							SO:0001583	missense			ENST00000302165.3	1	1	hg19	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558266	0.65538	.	.	ENSG00000170604	ENST00000302165	T	0.48836	0.8	3.41	1.19	0.21007	.	0.119053	0.36034	U	0.002838	T	0.42988	0.1227	N	0.22421	0.69	0.41761	D	0.989712	D	0.69078	0.997	P	0.59221	0.854	T	0.34675	-0.9819	10	0.62326	D	0.03	.	5.916	0.19055	0.2537:0.0:0.7463:0.0	.	3	Q8IU81	I2BP1_HUMAN	Y	3	ENSP00000307265:S3Y	ENSP00000307265:S3Y	S	-	2	0	IRF2BP1	51080865	1.000000	0.71417	0.292000	0.24919	0.980000	0.70556	6.545000	0.73883	0.260000	0.21731	0.462000	0.41574	TCT		TCGA-IB-7651-01A-11D-2154-08	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	1	0	0	24	56	0	17	1	9.841053e-01	4	15	0	17	2		0	0	0	0	0	2	1	9.999999e-01	24	55	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYPOP	339344	broad.mit.edu	37	19	46404623	46404623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46404623G>A	ENST00000322217.5	-	2	495	c.409C>T	c.(409-411)Cct>Tct	p.P137S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin			4					GGGGCCGCAGGGGGCTCCTCC	0.711000																								0							SO:0001583	missense			ENST00000322217.5	0	1	hg19	CCDS33055.1	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917012	0.17907	.	.	ENSG00000176182	ENST00000322217	T	0.42513	0.97	4.58	-0.437	0.12272	.	0.790677	0.10333	N	0.687286	T	0.19886	0.0478	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.28554	-1.0040	10	0.07325	T	0.83	0.0021	4.0573	0.09823	0.3018:0.1732:0.5251:0.0	.	137	Q86VE0	MYPOP_HUMAN	S	137	ENSP00000325402:P137S	ENSP00000325402:P137S	P	-	1	0	MYPOP	51096463	0.002000	0.14202	0.441000	0.26858	0.933000	0.57130	0.225000	0.17757	0.060000	0.16281	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	0	0	0	10	29	0	9	1	6.543452e-01	5	3	0	9	2		0	0	0	0	0	2	1	9.978486e-01	10	28	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999534	0.990000	1	9.900000e-01	1
NOVA2	4858	broad.mit.edu	37	19	46443145	46443145	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46443145G>A	ENST00000263257.5	-	4	1649	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2			21		all_neural(266;0.113)|Ovarian(192;0.127)			GGGGGTTTGAGGCCCTCACTC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000263257.5	1	1	hg19	CCDS12679.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	1	0	1	64	264	0	59	0	4.843350e-01	0	8	0	59	2		0	0	0	0	0	2	1	1	63	253	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGFL3	388555	broad.mit.edu	37	19	46627247	46627247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46627247G>T	ENST00000341415.2	-	3	270	c.246C>A	c.(244-246)tgC>tgA	p.C82*	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3			7		Ovarian(192;0.0175)|all_neural(266;0.0476)			ACTCGGGACAGCAGAGCTCAA	0.532000																								0							SO:0001587	stop_gained			ENST00000341415.2	0	1	hg19	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745593	0.49151	.	.	ENSG00000188624	ENST00000341415	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.2435	6.749	0.23477	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000344860:C82X	C	-	3	2	IGFL3	51319087	0.984000	0.35163	0.825000	0.32803	0.111000	0.19643	1.977000	0.40589	1.217000	0.43442	0.411000	0.27672	TGC		TCGA-IB-7651-01A-11D-2154-08	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	1	0	1	212	823	0	190	0	4.372504e-01	0	7	0	190	2		0	0	0	0	0	2	1	1	208	806	0	186	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIF3A	64344	broad.mit.edu	37	19	46811543	46811543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46811543C>T	ENST00000377670.4	+	4	460	c.429C>T	c.(427-429)gaC>gaT	p.D143D	HIF3A_ENST00000244303.6_Silent_p.D74D|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000300862.3_Silent_p.D141D|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Silent_p.D92D|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000339613.2_Silent_p.D87D	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit			33		Ovarian(192;0.00965)|all_neural(266;0.0887)			AGCTTCAGGACGCCCTGACCC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000377670.4	1	1	hg19	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630319	0.14257	4.54E-4	0.0	ENSG00000124440	ENST00000472815	.	.	.	3.86	-7.63	0.01290	.	.	.	.	.	T	0.50684	0.1630	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57063	-0.7875	4	.	.	.	.	10.3415	0.43882	0.0:0.1631:0.1122:0.7247	.	.	.	.	C	116	.	.	R	+	1	0	HIF3A	51503383	0.000000	0.05858	0.823000	0.32752	0.993000	0.82548	-5.642000	0.00107	-1.573000	0.01659	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3	1	0	1	100	475	0	110	1	9.361921e-01	6	18	0	110	2		0	0	0	0	0	2	1	1	97	461	0	109	2								-20.000000	1	1	121412	7	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP9	91039	broad.mit.edu	37	19	4690947	4690947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4690947C>A	ENST00000598800.1	-	15	1957	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N	DPP9_ENST00000594671.1_Missense_Mutation_p.K484N|DPP9_ENST00000262960.9_Missense_Mutation_p.K513N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9			20		Hepatocellular(1079;0.137)			CAATCTCTTCCTTAATGGGGC	0.557000																								0							SO:0001583	missense			ENST00000598800.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.528	0.465689	0.12402	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30448	1.53	4.39	2.15	0.27550	.	0.166608	0.51477	D	0.000082	T	0.27278	0.0669	M	0.65975	2.015	0.52501	D	0.99995	B	0.20459	0.045	B	0.26614	0.071	T	0.07520	-1.0768	10	0.30078	T	0.28	-23.8297	4.6523	0.12601	0.0:0.6645:0.0:0.3355	.	513	Q1ZZB8	.	N	592;454;513	ENSP00000262960:K513N	ENSP00000262960:K513N	K	-	3	2	DPP9	4641947	0.999000	0.42202	1.000000	0.80357	0.285000	0.27093	0.716000	0.25836	1.086000	0.41228	-0.263000	0.10527	AAG		TCGA-IB-7651-01A-11D-2154-08	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2	1	0	1	15	65	0	36	1	9.999999e-01	35	128	0	36	2		0	0	0	0	0	2	1	9.998905e-01	14	62	0	35	2								-3.468788	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999703	0.990000	1	9.900000e-01	1
CCDC8	83987	broad.mit.edu	37	19	46915898	46915898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46915898C>T	ENST00000307522.3	-	1	943	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8			23					ctccatgatgcgggccacgtc	0.642000																								0							SO:0001583	missense			ENST00000307522.3	1	1	hg19	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460660	0.63513	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.14022	2.54	4.42	2.31	0.28768	.	0.000000	0.40908	D	0.000990	T	0.10508	0.0257	M	0.64997	1.995	0.09310	N	0.999998	P	0.51653	0.947	B	0.35813	0.211	T	0.26985	-1.0087	10	0.37606	T	0.19	-7.8103	6.0197	0.19623	0.0:0.7715:0.0:0.2285	.	57	Q9H0W5	CCDC8_HUMAN	H	57	ENSP00000303158:R57H	ENSP00000303158:R57H	R	-	2	0	CCDC8	51607738	0.996000	0.38824	0.406000	0.26421	0.959000	0.62525	1.658000	0.37376	1.164000	0.42652	-0.237000	0.12165	CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	1	0	1	79	385	0	79	0	9.999109e-01	0	68	0	79	2		0	0	0	0	0	2	1	1	75	380	0	79	2								-3.247211	1	1	121412	1	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNMAL1	55228	broad.mit.edu	37	19	46974141	46974141	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46974141C>A	ENST00000313683.10	-	2	457	c.152G>T	c.(151-153)gGc>gTc	p.G51V	PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1			25		Ovarian(192;0.00965)|all_neural(266;0.0459)			gcggtacgggcccagtgggga	0.542000																								0							SO:0001583	missense			ENST00000313683.10	1	1	hg19	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529399	0.64860	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.15256	2.44;2.44	3.8	3.8	0.43715	.	0.000000	0.41605	D	0.000845	T	0.39172	0.1068	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.17623	-1.0363	10	0.56958	D	0.05	-13.2325	11.4785	0.50312	0.0:1.0:0.0:0.0	.	51;51	Q86V59-2;Q86V59	.;PNML1_HUMAN	V	51	ENSP00000410273:G51V;ENSP00000318131:G51V	ENSP00000318131:G51V	G	-	2	0	PNMAL1	51665981	0.999000	0.42202	0.933000	0.37362	0.704000	0.40688	3.328000	0.52052	2.421000	0.82119	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	1	0	1	34	204	0	51	0	7.506735e-01	0	18	0	51	2		0	0	0	0	0	2	1	1	32	197	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999930	0.990000	1	9.900000e-01	1
PNMAL2	57469	broad.mit.edu	37	19	46998046	46998046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998046G>A	ENST00000377655.2	-	1	676	c.677C>T	c.(676-678)aCg>aTg	p.T226M	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.T226M|AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2			8		Ovarian(192;0.00965)|all_neural(266;0.0459)			GGCCTGCAGCGTGGCGTACAG	0.667000																								0							SO:0001583	missense			ENST00000377655.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.567606|2.567606	0.45694|0.45694	.|.	.|.	ENSG00000204851|ENSG00000204850	ENST00000377655|ENST00000377652	T|.	0.27104|.	1.69|.	2.06|2.06	0.988|0.988	0.19796|0.19796	.|.	.|.	.|.	.|.	.|.	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P|D	0.40681|0.65815	0.727|0.995	B|P	0.24269|0.47786	0.052|0.557	T|T	0.11179|0.11179	-1.0598|-1.0598	9|8	0.56958|0.87932	D|D	0.05|0	-8.9284|-8.9284	4.7389|4.7389	0.13003|0.13003	0.1903:0.0:0.8097:0.0|0.1903:0.0:0.8097:0.0	.|.	226|53	Q9ULN7|Q6ZVU4	PNML2_HUMAN|.	M|M	226|53	ENSP00000366883:T226M|.	ENSP00000366883:T226M|ENSP00000366880:V53M	T|V	-|+	2|1	0|0	PNMAL2|AC011484.1	51689886|51689886	0.016000|0.016000	0.18221|0.18221	0.002000|0.002000	0.10522|0.10522	0.221000|0.221000	0.24807|0.24807	0.638000|0.638000	0.24674|0.24674	0.409000|0.409000	0.25649|0.25649	0.491000|0.491000	0.48974|0.48974	ACG|GTG		TCGA-IB-7651-01A-11D-2154-08	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	7	142	0	35	0	8.348837e-02	0	9	0	35	2		0	0	0	0	0	2	1	9.794949e-01	7	138	0	33	2								-10.766520	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.600000	0.260000	1.000000	1.000000	0.635714	0.600000	0	4.000000e-01	9.100000e-01
PNMAL2	57469	broad.mit.edu	37	19	46998367	46998367	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998367G>A	ENST00000377655.2	-	1	355	c.356C>T	c.(355-357)gCg>gTg	p.A119V	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.A119V|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2			8		Ovarian(192;0.00965)|all_neural(266;0.0459)			CCCAGCCTCCGCGGCCTGCGT	0.692000																								0							SO:0001583	missense			ENST00000377655.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.640729|1.640729	0.29157|0.29157	.|.	.|.	ENSG00000204850|ENSG00000204851	ENST00000377652|ENST00000377655	.|T	.|0.10005	.|2.92	1.55|1.55	0.391|0.391	0.16282|0.16282	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|P	0.54601|0.44478	0.967|0.836	B|B	0.31016|0.26310	0.123|0.068	T|T	0.38650|0.38650	-0.9651|-0.9651	8|9	0.87932|0.59425	D|D	0|0.04	-5.9318|-5.9318	4.7488|4.7488	0.13050|0.13050	0.0:0.0:0.5568:0.4432|0.0:0.0:0.5568:0.4432	.|.	160|119	Q6ZVU4|Q9ULN7	.|PNML2_HUMAN	T|V	160|119	.|ENSP00000366883:A119V	ENSP00000366880:A160T|ENSP00000366883:A119V	A|A	+|-	1|2	0|0	AC011484.1|PNMAL2	51690207|51690207	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	0.596000|0.596000	0.24044|0.24044	0.136000|0.136000	0.18733|0.18733	0.462000|0.462000	0.41574|0.41574	GCG|GCG		TCGA-IB-7651-01A-11D-2154-08	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	159	596	0	131	0	7.074676e-01	0	11	0	131	2		0	0	0	0	0	2	1	1	154	587	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKD2	25865	broad.mit.edu	37	19	47178333	47178333	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47178333T>G	ENST00000291281.4	-	17	2606	c.2381A>C	c.(2380-2382)aAa>aCa	p.K794T	PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000433867.1_Missense_Mutation_p.K794T|PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|DACT3-AS1_ENST00000525008.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2			41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			GCTGTAGCGTTTGCGCATCTT	0.567000																								0							SO:0001583	missense			ENST00000291281.4	1	1	hg19	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184267	0.94885	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68479	-0.33;-0.33	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.76414	0.3984	L	0.53780	1.695	0.80722	D	1	D;P;D	0.55800	0.973;0.645;0.965	P;B;P	0.62014	0.837;0.271;0.897	T	0.78994	-0.1984	10	0.87932	D	0	-45.8839	14.6862	0.69052	0.0:0.0:0.0:1.0	.	804;279;794	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	T	794	ENSP00000291281:K794T;ENSP00000393978:K794T	ENSP00000291281:K794T	K	-	2	0	PRKD2	51870173	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.982000	0.88131	2.169000	0.68431	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	1	0	1	8	70	0	22	1	9.999986e-01	106	243	0	22	2		0	0	0	0	0	2	1	9.883784e-01	8	66	0	21	2								-14.281300	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.600000	1.000000	1.000000	0.952402	0.990000	1	8.800000e-01	1
PRKD2	25865	broad.mit.edu	37	19	47194999	47194999	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47194999G>T	ENST00000291281.4	-	12	1920	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	PRKD2_ENST00000595515.1_Silent_p.V565V|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Silent_p.V565V|PRKD2_ENST00000601806.1_Silent_p.V408V|PRKD2_ENST00000600194.1_Silent_p.V408V			Q9BZL6	KPCD2_HUMAN	protein kinase D2			41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			CACCTCCATAGACCACTCCAA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000291281.4	1	1	hg19	CCDS12689.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	1	0	1	73	388	0	119	1	1	92	164	0	119	2		0	0	0	0	0	2	1	1	70	375	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKD2	25865	broad.mit.edu	37	19	47197201	47197201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47197201C>T	ENST00000291281.4	-	10	1732	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000433867.1_Missense_Mutation_p.A503T|PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T			Q9BZL6	KPCD2_HUMAN	protein kinase D2			41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			TGGCGGATGGCTGTCTCCCAG	0.697000																								0							SO:0001583	missense			ENST00000291281.4	1	1	hg19	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132859	0.94517	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.25912	1.77;1.77	5.08	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.097594	0.45361	D	0.000367	T	0.41003	0.1140	M	0.70595	2.14	0.58432	D	0.999998	B;B	0.33748	0.423;0.423	B;B	0.43445	0.42;0.42	T	0.32745	-0.9895	10	0.52906	T	0.07	-18.0442	17.6955	0.88281	0.0:1.0:0.0:0.0	.	503;503	E7ER94;Q9BZL6	.;KPCD2_HUMAN	T	503	ENSP00000291281:A503T;ENSP00000393978:A503T	ENSP00000291281:A503T	A	-	1	0	PRKD2	51889041	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	7.688000	0.84153	2.554000	0.86153	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	0	0	1	81	310	1	60	1	9.999968e-01	79	87	1	60	11		0	0	0	0	0	2	1	1	81	305	1	59	21								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKD2	25865	broad.mit.edu	37	19	47207843	47207843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47207843C>T	ENST00000291281.4	-	4	800	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000433867.1_Missense_Mutation_p.R192H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H			Q9BZL6	KPCD2_HUMAN	protein kinase D2			41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			GCGCCGTTTGCGGGCCCCACT	0.647000											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000291281.4	1	1	hg19	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	35	5.586441	0.96578	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68331	-0.32;-0.32	5.4	5.4	0.78164	.	0.169690	0.38217	U	0.001763	T	0.76688	0.4022	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.58620	0.983;0.983	P;P	0.56127	0.792;0.714	T	0.79140	-0.1926	10	0.72032	D	0.01	-40.6081	17.9478	0.89044	0.0:1.0:0.0:0.0	.	192;192	E7ER94;Q9BZL6	.;KPCD2_HUMAN	H	192	ENSP00000291281:R192H;ENSP00000393978:R192H	ENSP00000291281:R192H	R	-	2	0	PRKD2	51899683	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.453000	0.80700	2.535000	0.85469	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	1	0	1	44	263	0	48	1	1	27	166	0	48	2		0	0	0	0	0	2	1	1	44	260	0	47	2								-2.692974	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
STRN4	29888	broad.mit.edu	37	19	47223960	47223960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47223960G>A	ENST00000263280.6	-	17	2210	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	STRN4_ENST00000391910.3_Missense_Mutation_p.R728C|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	p.R721C(1)		17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			TGCTTCTTGCGGTGGGCCGTG	0.627000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000263280.6	1	1	hg19	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082450	0.76528	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.67865	-0.29;-0.24;-0.12	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.85120	0.5624	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.95	D	0.88983	0.3409	10	0.87932	D	0	-21.4832	16.0134	0.80420	0.0:0.0:1.0:0.0	.	728;721	F8VYA6;Q9NRL3	.;STRN4_HUMAN	C	728;721;602	ENSP00000375777:R728C;ENSP00000263280:R721C;ENSP00000440901:R602C	ENSP00000263280:R721C	R	-	1	0	STRN4	51915800	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.632000	0.67819	2.294000	0.77228	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	0	44	212	0	44	1	1	35	179	0	44	2		0	0	0	0	0	2	1	1	40	211	0	44	2								-3.141401	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRN4	29888	broad.mit.edu	37	19	47228829	47228829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228829C>T	ENST00000263280.6	-	10	1374	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	STRN4_ENST00000391910.3_Missense_Mutation_p.R449H|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4			17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			GGCCAGGGAACGAATGCCGTC	0.612000																								0							SO:0001583	missense			ENST00000263280.6	1	1	hg19	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993046	0.93167	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.62105	0.05;0.05;0.05	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78339	-0.2242	10	0.59425	D	0.04	-23.8563	16.8978	0.86105	0.0:1.0:0.0:0.0	.	449;442	F8VYA6;Q9NRL3	.;STRN4_HUMAN	H	449;442;323	ENSP00000375777:R449H;ENSP00000263280:R442H;ENSP00000440901:R323H	ENSP00000263280:R442H	R	-	2	0	STRN4	51920669	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.774000	0.68906	2.290000	0.77057	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	1	49	192	0	41	1	1	72	143	0	41	2		0	0	0	0	0	2	1	1	49	188	0	41	2								-3.691676	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRN4	29888	broad.mit.edu	37	19	47228837	47228837	+	Silent	SNP	G	G	A	rs145271240	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228837G>A	ENST00000263280.6	-	10	1366	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	STRN4_ENST00000391910.3_Silent_p.D446D|STRN4_ENST00000539396.1_Silent_p.D320D|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4			17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			AACGAATGCCGTCGTAGTGCG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000263280.6	1	1	hg19	CCDS12690.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	0	26	219	0	37	1	9.999999e-01	5	227	0	37	2		0	0	0	0	0	2	1	9.999999e-01	24	218	0	37	2								-7.584748	1	0	121410	32	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.850000	1.000000	1.000000	0.990504	0.990000	1	9.900000e-01	1
STRN4	29888	broad.mit.edu	37	19	47228870	47228870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228870C>T	ENST00000263280.6	-	10	1333	c.1284G>A	c.(1282-1284)tgG>tgA	p.W428*	STRN4_ENST00000391910.3_Nonsense_Mutation_p.W435*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4			17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			ACTTGGGGTTCCACGTCTTCT	0.607000																								0							SO:0001587	stop_gained			ENST00000263280.6	0	1	hg19	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435333	0.96150	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0279	16.8978	0.86105	0.0:1.0:0.0:0.0	.	.	.	.	X	435;428;309	.	ENSP00000263280:W428X	W	-	3	0	STRN4	51920710	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.537000	0.82033	2.290000	0.77057	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	0	30	211	0	44	1	1	2	205	0	44	2		0	0	0	0	0	2	1	1	29	207	0	43	2								-3.222431	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998963	0.990000	1	9.900000e-01	1
STRN4	29888	broad.mit.edu	37	19	47232005	47232005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232005C>T	ENST00000263280.6	-	7	958	c.909G>A	c.(907-909)atG>atA	p.M303I	STRN4_ENST00000391910.3_Missense_Mutation_p.M303I|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4			17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			CCTCGTCTTCCATTTCGGGCA	0.577000																								0							SO:0001583	missense			ENST00000263280.6	1	1	hg19	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507207	0.44558	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.63096	-0.02;-0.02;0.1	4.64	2.47	0.30058	.	0.375150	0.27936	N	0.017251	T	0.32556	0.0833	N	0.02539	-0.55	0.35125	D	0.76744	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.20207	-1.0282	10	0.37606	T	0.19	-11.0569	8.5626	0.33520	0.0:0.8136:0.0:0.1864	.	303;303	F8VYA6;Q9NRL3	.;STRN4_HUMAN	I	303;303;184;184	ENSP00000375777:M303I;ENSP00000263280:M303I;ENSP00000440901:M184I	ENSP00000263280:M303I	M	-	3	0	STRN4	51923845	1.000000	0.71417	0.974000	0.42286	0.835000	0.47333	1.872000	0.39549	0.561000	0.29186	0.561000	0.74099	ATG		TCGA-IB-7651-01A-11D-2154-08	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	1	0	1	88	430	0	87	1	1	65	158	0	87	2		0	0	0	0	0	2	1	1	88	421	0	86	2								-2.710169	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRN4	29888	broad.mit.edu	37	19	47232016	47232016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232016C>T	ENST00000263280.6	-	7	947	c.898G>A	c.(898-900)Gtg>Atg	p.V300M	STRN4_ENST00000391910.3_Missense_Mutation_p.V300M|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4			17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			ATTTCGGGCACCAGAGCCTTG	0.557000											OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000263280.6	0	1	hg19	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019671	0.35606	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.64260	-0.08;-0.09;0.04	4.64	3.56	0.40772	.	0.391047	0.25869	N	0.027773	T	0.47322	0.1439	L	0.32530	0.975	0.27214	N	0.959839	B;B	0.21452	0.056;0.004	B;B	0.25405	0.06;0.003	T	0.40794	-0.9544	10	0.46703	T	0.11	-5.7765	6.0249	0.19650	0.0:0.7031:0.1954:0.1015	.	300;300	F8VYA6;Q9NRL3	.;STRN4_HUMAN	M	300;300;181;181	ENSP00000375777:V300M;ENSP00000263280:V300M;ENSP00000440901:V181M	ENSP00000263280:V300M	V	-	1	0	STRN4	51923856	0.997000	0.39634	0.762000	0.31397	0.787000	0.44495	2.773000	0.47686	1.115000	0.41800	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2	0	0	0	11	502	0	83	1	9.586082e-01	16	234	0	83	2		0	0	0	0	0	2	1	9.981752e-01	11	493	0	82	2								-9.400218	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.270000	0.130000	1.000000	0.250000	0.332694	0.270000	0	1.900000e-01	3.900000e-01
FKRP	79147	broad.mit.edu	37	19	47259280	47259280	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47259280C>T	ENST00000318584.5	+	4	870	c.573C>T	c.(571-573)tgC>tgT	p.C191C	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.C191C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein			7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			CGCCCCGCTGCGACGCCCTGG	0.741000																								0							SO:0001819	synonymous_variant			ENST00000318584.5	1	1	hg19	CCDS12691.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	1	0	0	13	43	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.997163e-01	13	42	0	9	2								-20.000000	1	1	114400	3	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999829	0.990000	1	9.900000e-01	1
ARHGAP35	2909	broad.mit.edu	37	19	47423229	47423229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47423229C>T	ENST00000404338.3	+	1	1297	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	p.R433*(2)							AGTTGAGATGCGAAGGGCGTT	0.463000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000404338.3	0	1	hg19	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011903	0.93346	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	6.03	-3.54	0.04653	.	0.091446	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.3658	20.4143	0.99026	0.3296:0.6704:0.0:0.0	.	.	.	.	X	433	.	ENSP00000324820:R433X	R	+	1	2	ARHGAP35	52115069	0.844000	0.29557	0.729000	0.30791	0.897000	0.52465	0.082000	0.14847	-0.494000	0.06669	-0.262000	0.10625	CGA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	1	0	1	79	367	0	122	1	9.999810e-01	8	67	0	122	2		0	0	0	0	0	2	1	1	78	357	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP35	2909	broad.mit.edu	37	19	47424817	47424817	+	Missense_Mutation	SNP	G	G	A	rs140857154	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424817G>A	ENST00000404338.3	+	1	2885	c.2885G>A	c.(2884-2886)aGc>aAc	p.S962N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35								GAGGCCTGTAGCACCACCGAA	0.463000																								0							SO:0001583	missense			ENST00000404338.3	1	0	hg19	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	3.533	-0.095276	0.07010	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.07114	3.22	5.86	5.86	0.93980	.	0.132298	0.64402	D	0.000001	T	0.07908	0.0198	L	0.29908	0.895	0.36519	D	0.870073	P	0.36392	0.551	B	0.37144	0.242	T	0.13388	-1.0511	10	0.06494	T	0.89	-31.9416	18.9487	0.92632	0.0:0.0:1.0:0.0	.	962	Q9NRY4-2	.	N	962	ENSP00000385720:S962N	ENSP00000324820:S962N	S	+	2	0	ARHGAP35	52116657	0.608000	0.26966	1.000000	0.80357	0.990000	0.78478	1.000000	0.29770	2.778000	0.95560	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	1	0	1	72	275	0	67	1	9.999977e-01	28	47	0	67	2		0	0	0	0	0	2	1	1	71	267	0	66	2								-2.873903	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP35	2909	broad.mit.edu	37	19	47424913	47424913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424913G>A	ENST00000404338.3	+	1	2981	c.2981G>A	c.(2980-2982)aGc>aAc	p.S994N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35								CCATCTTACAGCCTGTTTCGA	0.493000																								0							SO:0001583	missense			ENST00000404338.3	1	1	hg19	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559972	0.27827	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08720	3.06	5.76	1.08	0.20341	.	0.813714	0.12204	N	0.489984	T	0.08537	0.0212	L	0.42245	1.32	0.09310	N	0.999994	P	0.36392	0.551	B	0.39531	0.302	T	0.29119	-1.0022	10	0.46703	T	0.11	-4.8785	6.1961	0.20550	0.0699:0.3604:0.4428:0.1268	.	994	Q9NRY4-2	.	N	994	ENSP00000385720:S994N	ENSP00000324820:S994N	S	+	2	0	ARHGAP35	52116753	0.172000	0.23043	0.450000	0.26969	0.803000	0.45373	0.815000	0.27253	0.059000	0.16252	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	1	0	1	25	251	0	52	1	9.919478e-01	10	69	0	52	2		0	0	0	0	0	2	1	9.999998e-01	25	245	0	52	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.720000	1.000000	1.000000	0.961929	0.990000	1	8.900000e-01	1
NPAS1	4861	broad.mit.edu	37	19	47535606	47535606	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47535606G>A	ENST00000602212.1	+	4	649	c.429G>A	c.(427-429)ttG>ttA	p.L143L	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.L143L|NPAS1_ENST00000439365.2_5'Flank			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1			6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)			GTCACATCTTGCAGGTGAGTG	0.642000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000602212.1	1	1	hg19	CCDS12694.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	1	0	1	93	359	0	70	0	0	1	0	0	70	2		0	0	0	0	0	2	1	1	91	354	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPAS1	4861	broad.mit.edu	37	19	47542776	47542776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47542776G>A	ENST00000602212.1	+	8	1136	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I|NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I|NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1			6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)			ACACATGATCGTCTTCCGTCT	0.672000																								0							SO:0001583	missense			ENST00000602212.1	1	1	hg19	CCDS12694.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744551	0.89663	.	.	ENSG00000130751	ENST00000449844;ENST00000439365	T;T	0.29917	2.33;1.55	4.56	4.56	0.56223	PAS (1);	0.000000	0.64402	D	0.000009	T	0.45115	0.1326	L	0.41356	1.27	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;P	0.75484	0.986;0.891	T	0.41520	-0.9504	10	0.66056	D	0.02	.	12.8213	0.57694	0.0:0.0:1.0:0.0	.	130;306	B4DR69;Q99742	.;NPAS1_HUMAN	I	306;130	ENSP00000405290:V306I;ENSP00000398689:V130I	ENSP00000398689:V130I	V	+	1	0	NPAS1	52234616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.388000	0.73195	2.097000	0.63578	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	1	0	1	72	250	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	71	238	0	55	2								-20.000000	1	1	121352	1	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H4	23211	broad.mit.edu	37	19	47570756	47570756	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47570756C>T	ENST00000253048.5	-	15	2806	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4			41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)			CCTCCTCCTCCGTTGGGGGCG	0.711000																								0							SO:0001819	synonymous_variant			ENST00000253048.5	1	1	hg19	CCDS42582.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1	1	0	0	22	515	0	65	1	5.893332e-01	2	45	0	65	2		0	0	0	0	0	2	1	9.999985e-01	21	507	0	62	2								-3.102536	1	1	120694	7	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.500000	0.310000	1.000000	0.480000	0.542204	0.500000	0	4.000000e-01	6.500000e-01
ZC3H4	23211	broad.mit.edu	37	19	47584827	47584827	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47584827G>A	ENST00000253048.5	-	11	1420	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	RN7SL533P_ENST00000584468.1_RNA|ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4			41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)			ACATGCAGTCGTCACCATTGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000253048.5	1	1	hg19	CCDS42582.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1	1	0	0	64	326	0	78	1	9.979904e-01	8	42	0	78	2		0	0	0	0	0	2	1	1	64	316	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H4	23211	broad.mit.edu	37	19	47588377	47588377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47588377C>T	ENST00000253048.5	-	8	1080	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4			41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)			CCCTCCTCGGCTGCCACCTCG	0.597000																								0							SO:0001583	missense			ENST00000253048.5	1	1	hg19	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721601	0.68959	.	.	ENSG00000130749	ENST00000253048	T	0.17691	2.26	5.97	5.97	0.96955	.	0.504809	0.23924	N	0.043218	T	0.12305	0.0299	N	0.22421	0.69	0.25133	N	0.990553	P	0.34462	0.454	B	0.26614	0.071	T	0.19386	-1.0307	10	0.28530	T	0.3	.	17.3508	0.87323	0.0:1.0:0.0:0.0	.	348	Q9UPT8	ZC3H4_HUMAN	N	348	ENSP00000253048:S348N	ENSP00000253048:S348N	S	-	2	0	ZC3H4	52280217	0.999000	0.42202	0.994000	0.49952	0.995000	0.86356	4.293000	0.59037	2.838000	0.97847	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1	1	0	1	177	807	0	214	1	9.992958e-01	16	34	0	214	2		0	0	0	0	0	2	1	1	169	790	0	211	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC9	26093	broad.mit.edu	37	19	47763668	47763668	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47763668G>A	ENST00000221922.6	+	4	421	c.199G>A	c.(199-201)Gca>Aca	p.A67T		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9			12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)			GGAGAACGTGGCAGTGGAGTC	0.622000																								0							SO:0001583	missense			ENST00000221922.6	0	1	hg19	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.764582	0.31228	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.21361	2.01	3.38	3.38	0.38709	.	0.391146	0.23398	N	0.048608	T	0.16385	0.0394	L	0.45137	1.4	0.22639	N	0.998904	P	0.40731	0.728	B	0.37888	0.26	T	0.12811	-1.0533	10	0.15952	T	0.53	-5.1606	12.1213	0.53893	0.0:0.0:1.0:0.0	.	67	Q9Y3X0	CCDC9_HUMAN	T	67	ENSP00000221922:A67T	ENSP00000221922:A67T	A	+	1	0	CCDC9	52455508	0.999000	0.42202	0.737000	0.30932	0.406000	0.30931	3.854000	0.55949	1.907000	0.55213	0.486000	0.48141	GCA		TCGA-IB-7651-01A-11D-2154-08	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	1	0	1	22	83	0	12	1	1	46	96	0	12	2		0	0	0	0	0	2	1	9.999991e-01	21	79	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
DHX34	9704	broad.mit.edu	37	19	47856540	47856540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47856540C>T	ENST00000328771.4	+	2	602	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34			36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)			AGACCCTGGACAGCCCAAGCA	0.567000																								0							SO:0001587	stop_gained			ENST00000328771.4	0	1	hg19	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132073	0.77662	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	.	.	.	5.84	-1.84	0.07809	.	3.498840	0.00550	N	0.000252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-22.3369	2.2393	0.04016	0.1073:0.4364:0.2036:0.2527	.	.	.	.	X	85	.	ENSP00000257252:Q85X	Q	+	1	0	DHX34	52548380	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.206000	0.17375	-0.105000	0.12132	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	0	0	0	30	739	0	154	0	1.776849e-01	1	18	0	154	2		0	0	0	0	0	2	1	1	30	719	0	154	2								-4.270593	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.320000	1.000000	0.460000	0.516709	0.470000	0	3.900000e-01	5.900000e-01
DHX34	9704	broad.mit.edu	37	19	47865893	47865893	+	Silent	SNP	C	C	T	rs138426511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47865893C>T	ENST00000328771.4	+	6	1885	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34			36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)			ATGATGCCTTCGCCCCCTACC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000328771.4	1	1	hg19	CCDS12700.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	1	0	1	47	179	0	38	1	9.469037e-01	3	18	0	38	2		0	0	0	0	0	2	1	1	46	177	0	36	2								-3.667591	1	1	121354	7	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX34	9704	broad.mit.edu	37	19	47870358	47870358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47870358G>A	ENST00000328771.4	+	7	2063	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34			36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)			CAGCTCAGAGGCCCTCACACC	0.667000																								0							SO:0001583	missense			ENST00000328771.4	1	1	hg19	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119434	0.37436	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02631	4.22	5.46	1.91	0.25777	Helicase-associated domain (2);	0.562264	0.16895	N	0.195155	T	0.02119	0.0066	N	0.26162	0.8	0.30097	N	0.807772	B	0.14438	0.01	B	0.17979	0.02	T	0.34279	-0.9835	10	0.19147	T	0.46	-24.4834	6.3607	0.21427	0.2459:0.1443:0.6098:0.0	.	572	Q14147	DHX34_HUMAN	T	572;487	ENSP00000331907:A572T	ENSP00000257252:A487T	A	+	1	0	DHX34	52562193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.792000	0.26929	1.215000	0.43411	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	1	0	1	38	160	0	36	1	9.923501e-01	7	28	0	36	2		0	0	0	0	0	2	1	1	37	154	0	40	2								-19.999470	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX34	9704	broad.mit.edu	37	19	47879730	47879730	+	Missense_Mutation	SNP	G	G	A	rs143455169		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47879730G>A	ENST00000328771.4	+	12	2861	c.2512G>A	c.(2512-2514)Gtg>Atg	p.V838M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34			36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)			GCAGGGCGCCGTGCTGCACCC	0.647000																								0							SO:0001583	missense			ENST00000328771.4	0	0	hg19	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246950	0.80024	2.27E-4	0.0	ENSG00000134815	ENST00000328771	T	0.03242	4.0	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.53938	D	0.000054	T	0.15046	0.0363	M	0.79475	2.455	0.58432	D	0.999998	D	0.63046	0.992	P	0.57425	0.82	T	0.00191	-1.1936	10	0.48119	T	0.1	-29.2816	16.0195	0.80472	0.0:0.0:1.0:0.0	.	838	Q14147	DHX34_HUMAN	M	838	ENSP00000331907:V838M	ENSP00000331907:V838M	V	+	1	0	DHX34	52571528	1.000000	0.71417	0.951000	0.38953	0.655000	0.38815	8.165000	0.89663	2.514000	0.84764	0.591000	0.81541	GTG		TCGA-IB-7651-01A-11D-2154-08	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	1	0	1	16	69	0	11	1	9.359685e-01	7	16	0	11	2		0	0	0	0	0	2	1	9.999596e-01	15	69	0	11	2								-20.000000	1	0	121240	2	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999797	0.990000	1	9.900000e-01	1
FEM1A	55527	broad.mit.edu	37	19	4793050	4793050	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793050A>G	ENST00000269856.3	+	1	1323	c.1184A>G	c.(1183-1185)tAc>tGc	p.Y395C	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)			17		Hepatocellular(1079;0.137)			TACATCCGTTACAGGGGTGCC	0.617000																								0							SO:0001583	missense			ENST00000269856.3	1	1	hg19	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163560	0.57476	.	.	ENSG00000141965	ENST00000269856	T	0.63580	-0.05	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000002	T	0.81740	0.4886	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84247	0.0475	10	0.42905	T	0.14	-24.2112	14.4967	0.67694	1.0:0.0:0.0:0.0	.	395	Q9BSK4	FEM1A_HUMAN	C	395	ENSP00000269856:Y395C	ENSP00000269856:Y395C	Y	+	2	0	FEM1A	4744050	1.000000	0.71417	0.965000	0.40720	0.538000	0.34931	9.119000	0.94362	1.824000	0.53156	0.402000	0.26972	TAC		TCGA-IB-7651-01A-11D-2154-08	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1	1	0	1	104	425	0	78	1	9.999894e-01	22	47	0	78	2		0	0	0	0	0	2	1	1	104	418	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FEM1A	55527	broad.mit.edu	37	19	4793649	4793649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793649G>A	ENST00000269856.3	+	1	1922	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)			17		Hepatocellular(1079;0.137)			CAACTGCCCGGCCATCATGAA	0.607000																								0							SO:0001583	missense			ENST00000269856.3	1	1	hg19	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906090	0.33628	.	.	ENSG00000141965	ENST00000269856	T	0.70986	-0.53	4.92	3.85	0.44370	Ankyrin repeat-containing domain (4);	0.596241	0.16305	U	0.220273	T	0.56630	0.1998	N	0.20483	0.58	0.28969	N	0.889377	B	0.02656	0.0	B	0.10450	0.005	T	0.55573	-0.8120	10	0.49607	T	0.09	-9.6475	13.4172	0.60976	0.0:0.2677:0.7323:0.0	.	595	Q9BSK4	FEM1A_HUMAN	T	595	ENSP00000269856:A595T	ENSP00000269856:A595T	A	+	1	0	FEM1A	4744649	0.975000	0.34042	0.967000	0.41034	0.977000	0.68977	4.857000	0.62939	2.264000	0.75181	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1	1	0	1	36	204	0	51	1	9.999497e-01	28	61	0	51	2		0	0	0	0	0	2	1	1	35	200	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
SLC8A2	6543	broad.mit.edu	37	19	47969093	47969093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47969093G>A	ENST00000236877.6	-	2	963	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2			31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)			TTGATCTTGCGGCTCTCGCCG	0.572000																								0							SO:0001583	missense			ENST00000236877.6	1	1	hg19	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280534	0.80692	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.66460	-0.21	4.04	4.04	0.47022	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89913	0.4053	10	0.87932	D	0	.	15.1426	0.72623	0.0:0.0:1.0:0.0	.	18;190	E9PGS7;Q9UPR5	.;NAC2_HUMAN	C	18;190	ENSP00000236877:R190C	ENSP00000236877:R190C	R	-	1	0	SLC8A2	52660905	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.695000	0.47043	2.098000	0.63641	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1	1	0	1	33	168	0	35	0	0	0	1	0	35	2		0	0	0	0	0	2	1	1	32	164	0	35	2								-3.369696	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
KPTN	11133	broad.mit.edu	37	19	47979831	47979831	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47979831C>T	ENST00000338134.3	-	11	1247	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	KPTN_ENST00000536339.1_Silent_p.Q140Q	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)			8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)			CGGCAAGCTCCTGCAGCCCAT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000338134.3	1	1	hg19	CCDS42583.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2	1	0	0	40	158	0	29	1	9.967537e-01	12	25	0	29	2		0	0	0	0	0	2	1	1	40	156	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAPA	8775	broad.mit.edu	37	19	47996703	47996703	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47996703G>T	ENST00000263354.3	-	5	689	c.390C>A	c.(388-390)atC>atA	p.I130I	NAPA_ENST00000593785.1_5'Flank|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Silent_p.I91I|NAPA-AS1_ENST00000593284.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	p.I130I(1)		11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)			CTGTCTCATAGATCTCAGCAA	0.607000													Ovarian(185;1135 2042 27703 31345 42493)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000263354.3	1	1	hg19	CCDS12702.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	1	0	1	233	1056	0	225	1	1	55	301	0	225	2		0	0	0	0	0	2	1	1	230	1042	0	222	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TICAM1	148022	broad.mit.edu	37	19	4817507	4817507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4817507C>A	ENST00000248244.5	-	2	1112	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1			26					GTGCTGGTTTCTGGAGCTGCG	0.637000																								0							SO:0001587	stop_gained			ENST00000248244.5	0	1	hg19	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278236	0.95459	.	.	ENSG00000127666	ENST00000248244	.	.	.	4.1	0.392	0.16288	.	1.162720	0.06964	U	0.816853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.3724	5.8491	0.18683	0.0:0.6612:0.1558:0.183	.	.	.	.	X	295	.	ENSP00000248244:E295X	E	-	1	0	TICAM1	4768507	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.188000	0.09642	-0.022000	0.13986	0.297000	0.19635	GAA		TCGA-IB-7651-01A-11D-2154-08	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	1	0	1	40	222	0	58	1	1	60	124	0	58	2		0	0	0	0	0	2	1	1	38	218	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
GLTSCR1	29998	broad.mit.edu	37	19	48183836	48183836	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48183836A>G	ENST00000396720.3	+	6	1603	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1			20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)			CCGGGCCAGAACCAGTTCCTA	0.721000																								0							SO:0001583	missense			ENST00000396720.3	1	1	hg19	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	a	9.517	1.107398	0.20714	.	.	ENSG00000063169	ENST00000396720	T	0.56103	0.48	4.6	1.12	0.20585	.	.	.	.	.	T	0.37404	0.1002	L	0.42245	1.32	0.30381	N	0.781977	B	0.18310	0.027	B	0.16289	0.015	T	0.29971	-0.9994	9	0.31617	T	0.26	.	2.8672	0.05605	0.6258:0.1483:0.0831:0.1428	.	470	Q9NZM4	GSCR1_HUMAN	S	470	ENSP00000379946:N470S	ENSP00000379946:N470S	N	+	2	0	GLTSCR1	52875648	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	4.857000	0.62939	0.160000	0.19432	-0.494000	0.04653	AAC		TCGA-IB-7651-01A-11D-2154-08	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	1	0	0	19	91	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999951e-01	19	91	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999837	0.990000	1	9.900000e-01	1
GLTSCR1	29998	broad.mit.edu	37	19	48197882	48197882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48197882C>T	ENST00000396720.3	+	8	2988	c.2794C>T	c.(2794-2796)Ccg>Tcg	p.P932S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1			20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)			GGTCCCTGAGCCGGCAGCACC	0.682000																								0							SO:0001583	missense			ENST00000396720.3	1	1	hg19	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	7.119	0.577510	0.13686	.	.	ENSG00000063169	ENST00000396720	T	0.29655	1.56	2.67	2.67	0.31697	.	.	.	.	.	T	0.22126	0.0533	N	0.24115	0.695	0.27966	N	0.93657	D	0.55172	0.97	P	0.45506	0.483	T	0.04693	-1.0933	9	0.19147	T	0.46	.	10.9231	0.47176	0.0:1.0:0.0:0.0	.	932	Q9NZM4	GSCR1_HUMAN	S	932	ENSP00000379946:P932S	ENSP00000379946:P932S	P	+	1	0	GLTSCR1	52889694	0.747000	0.28283	0.604000	0.28916	0.012000	0.07955	0.000000	0.12993	1.436000	0.47453	0.289000	0.19496	CCG		TCGA-IB-7651-01A-11D-2154-08	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	1	0	0	41	167	0	39	1	9.438950e-01	7	15	0	39	2		0	0	0	0	0	2	1	1	39	153	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHD2	30846	broad.mit.edu	37	19	48244498	48244498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48244498C>T	ENST00000263277.3	+	6	1692	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	EHD2_ENST00000538399.1_Missense_Mutation_p.L345F|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2			19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)			GGGGACCAAGCTCCCCAACTC	0.612000																								0							SO:0001583	missense			ENST00000263277.3	1	1	hg19	CCDS12704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966356|3.966356	0.74131|0.74131	.|.	.|.	ENSG00000024422|ENSG00000024422	ENST00000454483|ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	.|T;T	.|0.49720	.|0.77;0.77	4.03|4.03	4.03|4.03	0.46877|0.46877	.|EPS15 homology (EH) (2);EF-hand-like domain (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.81616|0.81616	0.4860|0.4860	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.89471|0.89471	0.3743|0.3743	6|10	0.31617|0.87932	T|D	0.26|0	-27.2593|-27.2593	14.0469|14.0469	0.64710|0.64710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|481	.|Q9NZN4	.|EHD2_HUMAN	V|F	150|481;471;345;164	.|ENSP00000263277:L481F;ENSP00000439036:L345F	ENSP00000391634:A150V|ENSP00000263277:L481F	A|L	+|+	2|1	0|0	EHD2|EHD2	52936310|52936310	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.707000|0.707000	0.40811|0.40811	5.919000|5.919000	0.70005|0.70005	1.966000|1.966000	0.57179|0.57179	0.561000|0.561000	0.74099|0.74099	GCT|CTC		TCGA-IB-7651-01A-11D-2154-08	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1	1	0	0	16	281	0	66	1	9.984565e-01	7	181	0	66	2		0	0	0	0	0	2	1	9.999286e-01	16	275	0	66	2								-18.374170	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.660000	0.390000	1.000000	1.000000	0.689419	0.660000	0	5.100000e-01	8.900000e-01
GLTSCR2	29997	broad.mit.edu	37	19	48254262	48254262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48254262C>T	ENST00000246802.5	+	4	534	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2			15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)			CCGGGAGGTGCGCAGGGCCCA	0.687000													Colon(58;613 1041 9473 10089 15241)											0							SO:0001583	missense			ENST00000246802.5	0	1	hg19	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449166	0.63178	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.46819	0.86	3.86	3.86	0.44501	.	0.160449	0.41938	D	0.000785	T	0.63827	0.2544	M	0.68317	2.08	0.51012	D	0.999903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.67201	-0.5730	10	0.72032	D	0.01	-14.0727	11.4519	0.50158	0.0:1.0:0.0:0.0	.	166;166;164	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	C	166	ENSP00000246802:R166C	ENSP00000246802:R166C	R	+	1	0	GLTSCR2	52946074	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.773000	0.55333	2.138000	0.66242	0.407000	0.27541	CGC		TCGA-IB-7651-01A-11D-2154-08	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	1	0	1	7	44	0	13	1	1	282	763	0	13	2		0	0	0	0	0	2	1	9.832417e-01	7	44	0	13	2								-14.374220	1	1	120972	4	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.730000	1.000000	1.000000	0.981845	0.990000	1	9.900000e-01	1
GLTSCR2	29997	broad.mit.edu	37	19	48255775	48255775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255775G>A	ENST00000246802.5	+	6	714	c.676G>A	c.(676-678)Gca>Aca	p.A226T	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2			15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)			ACAGCGGCCAGCACGCCTGCA	0.662000													Colon(58;613 1041 9473 10089 15241)											0							SO:0001583	missense			ENST00000246802.5	1	1	hg19	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	g	7.465	0.645474	0.14451	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.43688	0.94	4.08	1.93	0.25924	.	1.116760	0.06648	N	0.762308	T	0.23688	0.0573	N	0.12182	0.205	0.09310	N	1	B;B;B	0.19331	0.035;0.028;0.035	B;B;B	0.24394	0.033;0.024;0.053	T	0.30208	-0.9986	10	0.14656	T	0.56	-1.9066	5.7496	0.18140	0.0:0.6922:0.199:0.1088	.	226;226;224	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	T	226	ENSP00000246802:A226T	ENSP00000246802:A226T	A	+	1	0	GLTSCR2	52947587	0.000000	0.05858	0.006000	0.13384	0.108000	0.19459	0.736000	0.26130	0.500000	0.27991	-0.387000	0.06579	GCA		TCGA-IB-7651-01A-11D-2154-08	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	1	0	1	65	297	0	43	1	1	165	674	0	43	2		0	0	0	0	0	2	1	1	64	292	0	42	2								-20.000000	1	0	121350	2	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLTSCR2	29997	broad.mit.edu	37	19	48255822	48255822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255822G>A	ENST00000246802.5	+	6	761	c.723G>A	c.(721-723)gcG>gcA	p.A241A	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2			15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)			TGGAGGTGGCGCCTGCCGGAG	0.662000													Colon(58;613 1041 9473 10089 15241)											0							SO:0001819	synonymous_variant			ENST00000246802.5	1	1	hg19	CCDS12705.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	1	0	1	66	296	0	53	1	1	205	589	0	53	2		0	0	0	0	0	2	1	1	64	287	0	48	2								-3.422876	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLTSCR2	29997	broad.mit.edu	37	19	48258122	48258122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48258122C>T	ENST00000246802.5	+	8	1065	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2			15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)			GCAGCAGCGGCGGCGGGAGAA	0.726000													Colon(58;613 1041 9473 10089 15241)											0							SO:0001583	missense			ENST00000246802.5	0	1	hg19	CCDS12705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.24|14.24	2.477870|2.477870	0.44044|0.44044	.|.	.|.	ENSG00000105373|ENSG00000105373	ENST00000325566|ENST00000246802	.|T	.|0.50001	.|0.76	3.84|3.84	2.7|2.7	0.31948|0.31948	.|.	.|0.126503	.|0.50627	.|D	.|0.000111	T|T	0.62295|0.62295	0.2416|0.2416	M|M	0.80422|0.80422	2.495|2.495	0.42653|0.42653	D|D	0.993456|0.993456	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;P;P	.|0.63033	.|0.91;0.88;0.828	T|T	0.65726|0.65726	-0.6098|-0.6098	6|10	0.54805|0.59425	T|D	0.06|0.04	-20.7609|-20.7609	8.0244|8.0244	0.30427|0.30427	0.2428:0.7572:0.0:0.0|0.2428:0.7572:0.0:0.0	.|.	.|343;343;341	.|Q53YP0;Q9NZM5;Q96CS0	.|.;GSCR2_HUMAN;.	V|W	341|343	.|ENSP00000246802:R343W	ENSP00000324079:A341V|ENSP00000246802:R343W	A|R	+|+	2|1	0|2	GLTSCR2|GLTSCR2	52949934|52949934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.081000|0.081000	0.17604|0.17604	2.674000|2.674000	0.46867|0.46867	2.123000|2.123000	0.65237|0.65237	0.411000|0.411000	0.27672|0.27672	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	0	0	0	5	36	0	8	1	9.995088e-01	10	139	0	8	2		0	0	0	0	0	2	1	9.334054e-01	5	34	0	7	2								-11.374810	1	0	113008	2	24	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.570000	1.000000	1.000000	0.957096	0.990000	1	9.200000e-01	1
CRX	1406	broad.mit.edu	37	19	48342621	48342621	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342621G>T	ENST00000221996.7	+	4	503	c.297G>T	c.(295-297)caG>caT	p.Q99H	CRX_ENST00000539067.1_Missense_Mutation_p.Q99H|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox			23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)			agcagcgacagcagcagaaac	0.642000													Pancreas(57;461 1196 22201 40716 47188)											0							SO:0001583	missense			ENST00000221996.7	1	1	hg19	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564636	0.45694	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91124	-2.79;-2.79	3.86	2.8	0.32819	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	N	0.24115	0.695	0.58432	D	0.999991	D	0.61080	0.989	P	0.59115	0.852	D	0.86203	0.1620	10	0.56958	D	0.05	-8.5147	7.3399	0.26632	0.148:0.0:0.852:0.0	.	99	O43186	CRX_HUMAN	H	99	ENSP00000221996:Q99H;ENSP00000445565:Q99H	ENSP00000221996:Q99H	Q	+	3	2	CRX	53034433	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.806000	0.47947	0.739000	0.32628	0.460000	0.39030	CAG		TCGA-IB-7651-01A-11D-2154-08	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	1	0	1	198	759	0	195		0	0	0	0	195	2		0	0	0	0	0	2	1	1	194	743	0	195	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRX	1406	broad.mit.edu	37	19	48342916	48342916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342916G>A	ENST00000221996.7	+	4	798	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	CRX_ENST00000539067.1_Missense_Mutation_p.A198T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox			23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)			CTACGCCCCGGCCTCCGCTTT	0.672000													Pancreas(57;461 1196 22201 40716 47188)											0							SO:0001583	missense			ENST00000221996.7	1	1	hg19	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481258	0.26598	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.87103	-2.21;-2.21	4.46	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.83889	0.5352	L	0.27053	0.805	0.37373	D	0.911731	D	0.56287	0.975	P	0.54372	0.75	T	0.82238	-0.0556	10	0.27785	T	0.31	-11.2854	10.3854	0.44136	0.0984:0.0:0.9016:0.0	.	198	O43186	CRX_HUMAN	T	198	ENSP00000221996:A198T;ENSP00000445565:A198T	ENSP00000221996:A198T	A	+	1	0	CRX	53034728	0.998000	0.40836	0.042000	0.18584	0.312000	0.27988	3.493000	0.53266	0.860000	0.35481	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	1	0	1	161	584	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	160	574	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SULT2A1	6822	broad.mit.edu	37	19	48382317	48382317	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48382317T>C	ENST00000222002.3	-	4	682	c.543A>G	c.(541-543)ttA>ttG	p.L181L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1			20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		Abiraterone(DB05812)|Acetaminophen(DB00316)	CATAACTCAGTAACAGGAAGT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000222002.3	1	1	hg19	CCDS12707.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	1	0	1	148	673	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1	146	656	0	175	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLIN3	10226	broad.mit.edu	37	19	4844705	4844705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4844705G>A	ENST00000221957.4	-	7	1111	c.935C>T	c.(934-936)cCc>cTc	p.P312L	PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L|PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3			9				Galsulfase(DB01279)|Idursulfase(DB01271)	CTCCTTCTCGGGGCCCTGGAG	0.597000																								0							SO:0001583	missense			ENST00000221957.4	1	1	hg19	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392630	0.25118	.	.	ENSG00000105355	ENST00000221957	T	0.05199	3.48	4.07	1.79	0.24919	.	1.707180	0.03546	U	0.224768	T	0.09335	0.0230	L	0.43152	1.355	0.09310	N	1	B;B;B	0.23249	0.028;0.082;0.035	B;B;B	0.24394	0.031;0.023;0.053	T	0.45234	-0.9275	10	0.36615	T	0.2	-25.0203	12.0524	0.53513	0.0:0.3346:0.6654:0.0	.	312;129;312	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	L	312	ENSP00000221957:P312L	ENSP00000221957:P312L	P	-	2	0	PLIN3	4795705	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.226000	0.09139	0.334000	0.23590	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	1	0	1	11	65	0	19	1	1	319	585	0	19	2		0	0	0	0	0	2	1	9.985504e-01	11	63	0	19	2								-19.275260	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.910000	1.000000	1.000000	0.994668	0.990000	1	9.900000e-01	1
PLIN3	10226	broad.mit.edu	37	19	4847718	4847718	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847718C>T	ENST00000221957.4	-	6	995	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PLIN3_ENST00000592528.1_Silent_p.S261S|PLIN3_ENST00000585479.1_Silent_p.S273S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3			9				Galsulfase(DB01279)|Idursulfase(DB01271)	TTAGGACCTGCGACAGCTGCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000221957.4	1	1	hg19	CCDS12137.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	1	0	1	13	57	0	17	1	1	265	488	0	17	2		0	0	0	0	0	2	1	9.997097e-01	13	57	0	17	2								-19.999870	1	1	121262	6	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999358	0.990000	1	9.900000e-01	1
PLIN3	10226	broad.mit.edu	37	19	4847894	4847894	+	Missense_Mutation	SNP	C	C	T	rs146856306	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847894C>T	ENST00000221957.4	-	6	819	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3			9				Galsulfase(DB01279)|Idursulfase(DB01271)	AGGGATGTGGCGATGCGGGCT	0.597000																								0							SO:0001583	missense			ENST00000221957.4	1	1	hg19	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022869	0.54683	0.0	3.49E-4	ENSG00000105355	ENST00000221957	T	0.28255	1.62	4.41	2.14	0.27477	.	0.185373	0.34291	U	0.004087	T	0.44540	0.1298	M	0.84082	2.675	0.51233	D	0.999911	D;P;D	0.60575	0.985;0.951;0.988	P;B;P	0.52627	0.579;0.32;0.704	T	0.49916	-0.8888	10	0.87932	D	0	-28.6311	8.6119	0.33808	0.1512:0.7668:0.0:0.082	.	215;32;215	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	T	215	ENSP00000221957:A215T	ENSP00000221957:A215T	A	-	1	0	PLIN3	4798894	0.998000	0.40836	0.766000	0.31476	0.083000	0.17756	4.092000	0.57707	0.861000	0.35504	0.511000	0.50034	GCC		TCGA-IB-7651-01A-11D-2154-08	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	1	0	1	21	107	0	26	1	1	260	572	0	26	2		0	0	0	0	0	2	1	9.999985e-01	21	105	0	25	2								-20.000000	1	1	121410	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999841	0.990000	1	9.900000e-01	1
ELSPBP1	64100	broad.mit.edu	37	19	48519159	48519159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48519159G>A	ENST00000339841.2	+	4	396	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1			10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)			GATTACCCACGCTGTATCTTC	0.463000																								0							SO:0001583	missense			ENST00000339841.2	1	1	hg19	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	g	8.098	0.776018	0.16051	2.27E-4	0.0	ENSG00000169393	ENST00000339841	T	0.09817	2.94	3.4	2.35	0.29111	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.186449	0.24554	N	0.037536	T	0.09555	0.0235	M	0.62016	1.91	0.19945	N	0.999947	P	0.44521	0.837	B	0.38106	0.265	T	0.22312	-1.0220	10	0.15952	T	0.53	.	7.4446	0.27203	0.1314:0.0:0.8686:0.0	.	73	Q96BH3	ESPB1_HUMAN	H	73	ENSP00000340660:R73H	ENSP00000340660:R73H	R	+	2	0	ELSPBP1	53210971	0.746000	0.28272	0.802000	0.32245	0.261000	0.26267	0.922000	0.28734	0.710000	0.31997	-0.246000	0.11932	CGC		TCGA-IB-7651-01A-11D-2154-08	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1	1	0	1	54	161	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	54	157	0	53	2								-20.000000	1	1	121412	8	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLIN3	10226	broad.mit.edu	37	19	4852162	4852162	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4852162G>A	ENST00000221957.4	-	5	676	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F|PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3			9				Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCACTACGGACTTTGTCTT	0.657000											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000221957.4	1	1	hg19	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532738	0.45073	.	.	ENSG00000105355	ENST00000221957	T	0.04275	3.66	4.95	2.69	0.31865	.	0.679439	0.14052	U	0.344650	T	0.23766	0.0575	M	0.83953	2.67	0.35540	D	0.802987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.28964	-1.0027	10	0.87932	D	0	-11.6118	14.4207	0.67180	0.0:0.2818:0.7182:0.0	.	167;167	O60664-3;O60664	.;PLIN3_HUMAN	F	167	ENSP00000221957:S167F	ENSP00000221957:S167F	S	-	2	0	PLIN3	4803162	0.976000	0.34144	0.095000	0.20976	0.014000	0.08584	2.719000	0.47244	0.425000	0.26087	0.555000	0.69702	TCC		TCGA-IB-7651-01A-11D-2154-08	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	1	0	1	21	177	0	40	1	1	130	600	0	40	2		0	0	0	0	0	2	1	9.999980e-01	21	174	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.820000	1.000000	1.000000	0.986705	0.990000	1	9.900000e-01	1
ELSPBP1	64100	broad.mit.edu	37	19	48523002	48523002	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48523002C>A	ENST00000339841.2	+	5	560	c.382C>A	c.(382-384)Ccc>Acc	p.P128T	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1			10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)			TCTCAGGAAGCCCTGCATCTT	0.443000																								0							SO:0001583	missense			ENST00000339841.2	1	1	hg19	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535607	0.27475	.	.	ENSG00000169393	ENST00000339841	T	0.09911	2.93	3.76	2.71	0.32032	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.128105	0.35320	N	0.003283	T	0.13756	0.0333	M	0.87758	2.905	0.26877	N	0.967623	P	0.39551	0.678	B	0.30572	0.117	T	0.20140	-1.0284	10	0.62326	D	0.03	.	7.6932	0.28579	0.0:0.8752:0.0:0.1248	.	128	Q96BH3	ESPB1_HUMAN	T	128	ENSP00000340660:P128T	ENSP00000340660:P128T	P	+	1	0	ELSPBP1	53214814	0.996000	0.38824	0.998000	0.56505	0.504000	0.33889	0.777000	0.26718	0.870000	0.35726	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1	1	0	0	17	296	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.999669e-01	17	294	0	48	2								-19.051410	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.660000	0.390000	1.000000	0.630000	0.693145	0.660000	0	5.100000e-01	8.800000e-01
PLIN3	10226	broad.mit.edu	37	19	4859664	4859664	+	Missense_Mutation	SNP	C	C	T	rs149231262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4859664C>T	ENST00000221957.4	-	4	462	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PLIN3_ENST00000592528.1_Missense_Mutation_p.A96T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A96T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3			9				Galsulfase(DB01279)|Idursulfase(DB01271)	CCCCTGTGGGCGTATTCGCTG	0.567000																								0							SO:0001583	missense			ENST00000221957.4	0	1	hg19	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753824	0.69648	.	.	ENSG00000105355	ENST00000221957	T	0.09538	2.97	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	M	0.87269	2.87	0.50467	D	0.99987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49844	-0.8896	10	0.87932	D	0	-18.4431	16.2945	0.82763	0.0:1.0:0.0:0.0	.	96;96	O60664-3;O60664	.;PLIN3_HUMAN	T	96	ENSP00000221957:A96T	ENSP00000221957:A96T	A	-	1	0	PLIN3	4810664	1.000000	0.71417	0.614000	0.29051	0.117000	0.20001	5.674000	0.68117	2.161000	0.67846	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	0	0	0	43	253	1	43	1	9.999972e-01	267	536	1	43	47		0	0	0	0	0	2	1	9.986551e-01	41	251	1	43	21								-20.000000	1	1	121412	2	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
PLA2G4C	8605	broad.mit.edu	37	19	48598787	48598787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48598787C>T	ENST00000599921.1	-	7	1000	c.643G>A	c.(643-645)Gga>Aga	p.G215R	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G215R			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)			38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)			AATTTGCTTCCGAAGTGGGTT	0.542000																								0							SO:0001583	missense			ENST00000599921.1	1	1	hg19	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401579	0.83120	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.48201	0.82;0.82	3.31	3.31	0.37934	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	U	0.000002	T	0.70954	0.3283	M	0.90082	3.085	0.34797	D	0.736353	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81885	-0.0727	10	0.87932	D	0	-13.7198	10.4531	0.44535	0.0:1.0:0.0:0.0	.	225;215	B4DI40;Q9UP65	.;PA24C_HUMAN	R	215	ENSP00000346228:G215R;ENSP00000400036:G215R	ENSP00000346228:G215R	G	-	1	0	PLA2G4C	53290599	1.000000	0.71417	0.678000	0.29963	0.839000	0.47603	3.119000	0.50422	1.553000	0.49476	0.205000	0.17691	GGA		TCGA-IB-7651-01A-11D-2154-08	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1	1	0	1	204	841	1	226	0	9.910149e-01	1	31	1	226	2		0	0	0	0	0	2	1	1	201	822	1	223	17								-3.270060	1	1	121412	1	25	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARD8	22900	broad.mit.edu	37	19	48725090	48725090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48725090C>T	ENST00000359009.4	-	7	1052	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CARD8_ENST00000391898.3_Missense_Mutation_p.R353H|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000357778.5_Missense_Mutation_p.R78H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H|CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8			15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)			ACCATGGAAGCGATCTTCCTC	0.428000																								0							SO:0001583	missense			ENST00000359009.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.46	2.243606	0.39697	.	.	ENSG00000105483	ENST00000357778;ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	2.3	-4.61	0.03380	.	.	.	.	.	T	0.25865	0.0630	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998;0.998;0.998	P;D;D;P;P;P;P	0.64144	0.864;0.922;0.922;0.872;0.786;0.786;0.783	T	0.15752	-1.0426	9	0.66056	D	0.02	.	5.7338	0.18055	0.0:0.2121:0.1655:0.6223	.	272;353;353;353;303;247;247	B5KVR7;E9PEM7;B5KVR6;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;CARD8_HUMAN	H	78;303;353;247;353;303;353;303;353	ENSP00000350423:R78H;ENSP00000391248:R303H;ENSP00000375767:R353H;ENSP00000351901:R247H;ENSP00000429839:R353H;ENSP00000428736:R303H;ENSP00000430747:R353H;ENSP00000427858:R303H;ENSP00000428883:R353H	ENSP00000350423:R78H	R	-	2	0	CARD8	53416902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.582000	0.05814	-1.532000	0.01747	-0.218000	0.12543	CGC		TCGA-IB-7651-01A-11D-2154-08	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0	12	247	0	51	0	7.366742e-01	1	54	0	51	2		0	0	0	0	0	2	1	9.990290e-01	12	240	0	51	2								-4.603692	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.570000	0.310000	1.000000	0.540000	0.613635	0.570000	0	4.200000e-01	8.000000e-01
ZNF114	163071	broad.mit.edu	37	19	48785680	48785680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48785680C>T	ENST00000595607.1	+	5	556	c.62C>T	c.(61-63)aCc>aTc	p.T21I	ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I|ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I			Q8NC26	ZN114_HUMAN	zinc finger protein 114			18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)			GAGGAGTGGACCCTGCTGGAC	0.512000																								0							SO:0001583	missense			ENST00000595607.1	1	1	hg19	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805445	0.16467	.	.	ENSG00000178150	ENST00000315849	T	0.01787	4.64	2.26	1.16	0.20824	Krueppel-associated box (4);	.	.	.	.	T	0.03608	0.0103	L	0.41961	1.31	0.09310	N	1	D	0.59357	0.985	P	0.55749	0.783	T	0.47394	-0.9121	9	0.39692	T	0.17	.	6.6534	0.22975	0.5111:0.4889:0.0:0.0	.	21	Q8NC26	ZN114_HUMAN	I	21	ENSP00000318898:T21I	ENSP00000318898:T21I	T	+	2	0	ZNF114	53477492	0.001000	0.12720	0.107000	0.21349	0.464000	0.32679	0.005000	0.13129	0.495000	0.27882	0.205000	0.17691	ACC		TCGA-IB-7651-01A-11D-2154-08	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	1	0	1	134	653	0	171	1	7.833994e-01	6	10	0	171	2		0	0	0	0	0	2	1	1	133	642	0	170	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC114	93233	broad.mit.edu	37	19	48800327	48800327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800327C>T	ENST00000315396.7	-	14	2601	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114			24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)			CCCGAGGCCTCCGCTCGAATC	0.662000																								0							SO:0001583	missense			ENST00000315396.7	1	1	hg19	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969332	0.53614	.	.	ENSG00000105479	ENST00000315396	T	0.26518	1.73	3.6	2.56	0.30785	.	.	.	.	.	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999999	D	0.63046	0.992	P	0.51806	0.68	T	0.06972	-1.0797	9	0.56958	D	0.05	-3.013	5.9822	0.19413	0.0:0.8585:0.0:0.1415	.	640	Q96M63	CC114_HUMAN	E	640	ENSP00000318429:G640E	ENSP00000318429:G640E	G	-	2	0	CCDC114	53492139	0.584000	0.26766	0.115000	0.21578	0.012000	0.07955	0.856000	0.27818	1.931000	0.55961	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	1	0	1	82	418	0	97	0	7.352037e-02	1	2	0	97	2		0	0	0	0	0	2	1	1	81	409	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC114	93233	broad.mit.edu	37	19	48800516	48800516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800516G>A	ENST00000315396.7	-	14	2412	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	p.T577M(1)|p.T370M(1)		24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)			GTCACCGTGCGTGATGTGGCT	0.622000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000315396.7	1	1	hg19	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889042	0.17540	.	.	ENSG00000105479	ENST00000315396	T	0.32988	1.43	2.2	1.01	0.19927	.	.	.	.	.	T	0.17152	0.0412	L	0.29908	0.895	0.09310	N	1	B	0.34290	0.447	B	0.17433	0.018	T	0.12760	-1.0535	9	0.87932	D	0	-4.7199	6.1144	0.20117	0.0:0.0:0.6969:0.303	.	577	Q96M63	CC114_HUMAN	M	577	ENSP00000318429:T577M	ENSP00000318429:T577M	T	-	2	0	CCDC114	53492328	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.881000	0.28173	0.152000	0.19188	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	1	0	1	63	276	0	59	0	9.278060e-02	0	3	0	59	2		0	0	0	0	0	2	1	1	63	267	0	56	2								-20.000000	1	1	121410	1	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC114	93233	broad.mit.edu	37	19	48806314	48806314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806314C>T	ENST00000315396.7	-	9	1598	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114			24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)			AAGTTCTGCTCGTTGATGAAG	0.592000																								0							SO:0001583	missense			ENST00000315396.7	1	1	hg19	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268026	0.59540	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.87	3.87	0.44632	.	.	.	.	.	T	0.59473	0.2196	M	0.81497	2.545	0.43399	D	0.995523	D;D;D	0.76494	0.999;0.991;0.991	D;B;P	0.76071	0.987;0.41;0.61	T	0.65092	-0.6252	9	0.72032	D	0.01	-17.7125	11.7482	0.51832	0.0:1.0:0.0:0.0	.	99;306;306	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	306	ENSP00000318429:E306K	ENSP00000318429:E306K	E	-	1	0	CCDC114	53498126	0.978000	0.34361	0.970000	0.41538	0.656000	0.38851	2.611000	0.46334	1.912000	0.55364	0.536000	0.68110	GAG		TCGA-IB-7651-01A-11D-2154-08	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	1	0	1	60	328	0	75	0	1.188693e-01	1	3	0	75	2		0	0	0	0	0	2	1	1	58	319	0	72	2								-2.722109	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC114	93233	broad.mit.edu	37	19	48806982	48806982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806982C>T	ENST00000315396.7	-	8	1484	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114			24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)			AGGGCGTCCTCGTAGCAAAGC	0.632000																								0							SO:0001583	missense			ENST00000315396.7	1	1	hg19	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323115	0.41096	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.02	1.94	0.25998	.	.	.	.	.	T	0.44623	0.1302	M	0.66378	2.025	0.34629	D	0.719466	D;D;D	0.71674	0.998;0.987;0.995	P;P;P	0.54706	0.676;0.661;0.759	T	0.54788	-0.8241	9	0.34782	T	0.22	-17.9378	7.9692	0.30117	0.0:0.7455:0.2545:0.0	.	61;268;268	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	268	ENSP00000318429:E268K	ENSP00000318429:E268K	E	-	1	0	CCDC114	53498794	0.869000	0.29996	0.482000	0.27366	0.216000	0.24613	1.399000	0.34566	0.583000	0.29574	-0.182000	0.12963	GAG		TCGA-IB-7651-01A-11D-2154-08	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	0	0	1	122	474	0	103	0	0	1	0	0	103	2		0	0	0	0	0	2	1	1	119	468	0	102	2								-3.174120	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNGR4	23546	broad.mit.edu	37	19	48876806	48876806	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48876806G>A	ENST00000344846.2	+	3	376	c.126G>A	c.(124-126)ctG>ctA	p.L42L	SYNGR4_ENST00000595322.1_5'UTR|SYNGR4_ENST00000601610.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4			10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)			CCTCCCTGCTGACCGACGGCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000344846.2	1	1	hg19	CCDS12717.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1	1	0	1	89	382	0	91	0	5.904977e-01	1	9	0	91	2		0	0	0	0	0	2	1	1	85	375	0	89	2								-3.165979	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNGR4	23546	broad.mit.edu	37	19	48879469	48879469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48879469A>G	ENST00000344846.2	+	5	849	c.599A>G	c.(598-600)aAc>aGc	p.N200S	SYNGR4_ENST00000595322.1_3'UTR|SYNGR4_ENST00000601610.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4			10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)			AGCCCTGTGAACATGCCCACC	0.607000																								0							SO:0001583	missense			ENST00000344846.2	0	1	hg19	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	A	1.842	-0.467137	0.04476	.	.	ENSG00000105467	ENST00000344846	T	0.45276	0.9	5.51	-0.499	0.12015	.	1.158960	0.06182	N	0.679615	T	0.28466	0.0704	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.22661	-1.0210	10	0.17832	T	0.49	-32.1086	5.5627	0.17152	0.4274:0.2954:0.2771:0.0	.	200	O95473	SNG4_HUMAN	S	200	ENSP00000344041:N200S	ENSP00000344041:N200S	N	+	2	0	SYNGR4	53571281	0.039000	0.19947	0.002000	0.10522	0.031000	0.12232	0.555000	0.23422	-0.075000	0.12798	0.454000	0.30748	AAC		TCGA-IB-7651-01A-11D-2154-08	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1	0	0	0	8	462	0	79	0	1.190664e-03	0	3	0	79	2		0	0	0	0	0	2	1	9.873523e-01	8	441	0	79	2								-3.100563	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.210000	0.090000	1.000000	0.200000	0.286779	0.210000	0	1.400000e-01	3.300000e-01
GRIN2D	2906	broad.mit.edu	37	19	48908453	48908453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908453G>A	ENST00000263269.3	+	3	1016	c.928G>A	c.(928-930)Gct>Act	p.A310T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D			37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGCGCTCGGCTGGCTGGCG	0.711000																								0							SO:0001583	missense			ENST00000263269.3	0	1	hg19	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231789	0.58777	.	.	ENSG00000105464	ENST00000263269	T	0.05382	3.45	4.45	4.45	0.53987	Extracellular ligand-binding receptor (1);	0.161142	0.40728	N	0.001033	T	0.11793	0.0287	N	0.22421	0.69	0.39742	D	0.971764	P	0.51791	0.948	P	0.57371	0.819	T	0.13202	-1.0518	10	0.56958	D	0.05	.	16.2466	0.82448	0.0:0.0:1.0:0.0	.	310	O15399	NMDE4_HUMAN	T	310	ENSP00000263269:A310T	ENSP00000263269:A310T	A	+	1	0	GRIN2D	53600265	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	7.893000	0.87330	2.199000	0.70637	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	1	0	0	7	95	0	12	0	1.537875e-01	1	8	0	12	2		0	0	0	0	0	2	1	9.551484e-01	4	74	0	8	2								-11.722970	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.860000	0.380000	1.000000	1.000000	0.820032	0.860000	1	5.900000e-01	1
GRIN2D	2906	broad.mit.edu	37	19	48908591	48908591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908591C>T	ENST00000263269.3	+	3	1154	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D			37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGCACCCACCGCGGCGAGAG	0.622000																								0							SO:0001583	missense			ENST00000263269.3	1	1	hg19	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134044	0.56828	.	.	ENSG00000105464	ENST00000263269	T	0.16073	2.37	4.32	4.32	0.51571	.	0.456329	0.18899	N	0.128097	T	0.17874	0.0429	L	0.44542	1.39	0.37251	D	0.906555	D	0.71674	0.998	P	0.48654	0.585	T	0.05468	-1.0883	10	0.56958	D	0.05	.	5.8638	0.18762	0.1928:0.7069:0.0:0.1002	.	356	O15399	NMDE4_HUMAN	C	356	ENSP00000263269:R356C	ENSP00000263269:R356C	R	+	1	0	GRIN2D	53600403	0.238000	0.23825	1.000000	0.80357	0.915000	0.54546	1.184000	0.32053	2.116000	0.64780	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	1	0	1	22	78	0	14	1	9.864290e-01	8	20	0	14	2		0	0	0	0	0	2	1	9.999994e-01	22	76	0	14	2								-20.000000	1	1	121190	1	19	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
GRIN2D	2906	broad.mit.edu	37	19	48922979	48922979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48922979G>A	ENST00000263269.3	+	9	2087	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D			37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCTTCGCCGTCATCTTCCT	0.592000																								0							SO:0001583	missense			ENST00000263269.3	1	1	hg19	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139824	0.94560	.	.	ENSG00000105464	ENST00000263269	T	0.52057	0.68	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.68659	0.3025	M	0.75615	2.305	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.73251	-0.4042	10	0.87932	D	0	.	16.6521	0.85219	0.0:0.0:1.0:0.0	.	667	O15399	NMDE4_HUMAN	I	667	ENSP00000263269:V667I	ENSP00000263269:V667I	V	+	1	0	GRIN2D	53614791	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	9.587000	0.98229	2.543000	0.85770	0.643000	0.83706	GTC		TCGA-IB-7651-01A-11D-2154-08	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	0	0	1	74	742	1	151	1	9.187867e-01	11	50	1	151	3		0	0	0	0	0	2	1	1	72	727	1	150	18								-3.075755	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.850000	1.000000	1.000000	0.984783	0.990000	1	9.600000e-01	1
GRIN2D	2906	broad.mit.edu	37	19	48945066	48945066	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945066T>C	ENST00000263269.3	+	11	2381	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D			37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGCTCAATTACATGGCCCG	0.637000																								0							SO:0001583	missense			ENST00000263269.3	1	1	hg19	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398480	0.62177	.	.	ENSG00000105464	ENST00000263269	T	0.56611	0.45	4.62	4.62	0.57501	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.79300	-0.1860	10	0.87932	D	0	.	13.4795	0.61328	0.0:0.0:0.0:1.0	.	765	O15399	NMDE4_HUMAN	H	765	ENSP00000263269:Y765H	ENSP00000263269:Y765H	Y	+	1	0	GRIN2D	53636878	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.860000	0.86993	2.090000	0.63153	0.374000	0.22700	TAC		TCGA-IB-7651-01A-11D-2154-08	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	1	0	1	50	188	0	52	1	9.999394e-01	26	32	0	52	2		0	0	0	0	0	2	1	1	49	186	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN2D	2906	broad.mit.edu	37	19	48945465	48945465	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945465C>T	ENST00000263269.3	+	12	2587	c.2499C>T	c.(2497-2499)atC>atT	p.I833I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D			37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGACAAAATCGAGGTGATGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000263269.3	1	1	hg19	CCDS12719.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	0	0	0	206	835	1	203	1	9.991632e-01	13	31	1	203	2		0	0	0	0	0	2	1	1	202	807	1	200	18								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRWD1	83743	broad.mit.edu	37	19	48953707	48953707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953707C>T	ENST00000253237.5	+	4	839	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1			19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)			ATGAGCAGGCCCAAATGAAGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000253237.5	1	1	hg19	CCDS12720.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	1	0	1	84	407	0	87	1	1	39	102	0	87	2		0	0	0	0	0	2	1	1	83	402	0	86	2								-3.344067	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRWD1	83743	broad.mit.edu	37	19	48953963	48953963	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953963C>A	ENST00000253237.5	+	5	956	c.723C>A	c.(721-723)ctC>ctA	p.L241L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1			19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)			ACATCCACCTCTGGACACCTA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000253237.5	1	1	hg19	CCDS12720.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	1	0	1	63	261	0	44	1	1	43	87	0	44	2		0	0	0	0	0	2	1	1	60	259	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRWD1	83743	broad.mit.edu	37	19	48956001	48956001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956001G>A	ENST00000253237.5	+	7	1293	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1			19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)			GCAGCACGTGGCCCCCGTGAC	0.652000																								0							SO:0001583	missense			ENST00000253237.5	1	1	hg19	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195000	0.94960	.	.	ENSG00000105447	ENST00000253237	T	0.61040	0.14	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.181454	0.46145	D	0.000309	T	0.73055	0.3538	M	0.87269	2.87	0.58432	D	0.999998	P	0.44281	0.831	P	0.51974	0.686	T	0.70930	-0.4738	10	0.19147	T	0.46	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	354	Q9BQ67	GRWD1_HUMAN	T	354	ENSP00000253237:A354T	ENSP00000253237:A354T	A	+	1	0	GRWD1	53647813	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.731000	0.74785	2.686000	0.91538	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	1	0	0	25	542	0	101	1	9.555321e-01	8	105	0	101	2		0	0	0	0	0	2	1	9.999998e-01	25	533	0	100	2								-4.695552	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.530000	0.350000	1.000000	0.520000	0.575106	0.530000	0	4.300000e-01	6.800000e-01
GRWD1	83743	broad.mit.edu	37	19	48956239	48956239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956239C>T	ENST00000253237.5	+	7	1531	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1			19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)			CTGGTCAGCACGGCGCTGTCA	0.632000																								0							SO:0001583	missense			ENST00000253237.5	0	1	hg19	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319539	0.81469	.	.	ENSG00000105447	ENST00000253237	T	0.01379	4.96	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.123114	0.53938	D	0.000055	T	0.13586	0.0329	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01776	-1.1276	10	0.87932	D	0	.	17.3051	0.87192	0.0:1.0:0.0:0.0	.	433	Q9BQ67	GRWD1_HUMAN	M	433	ENSP00000253237:T433M	ENSP00000253237:T433M	T	+	2	0	GRWD1	53648051	1.000000	0.71417	0.979000	0.43373	0.668000	0.39293	5.211000	0.65219	2.449000	0.82847	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	0	0	0	10	530	0	75	1	6.145187e-01	2	105	0	75	2		0	0	0	0	0	2	1	9.967197e-01	10	523	0	75	2								-7.996848	1	1	121358	1	20	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.230000	0.110000	1.000000	0.220000	0.300314	0.230000	0	1.600000e-01	3.400000e-01
KCNJ14	3770	broad.mit.edu	37	19	48965133	48965133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965133G>A	ENST00000391884.1	+	1	628	c.152G>A	c.(151-153)cGc>cAc	p.R51H	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14			10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Yohimbine(DB01392)	CGCCGCGGTCGCTTCGTCAAG	0.701000													NSCLC(148;170 3504 35216)											0							SO:0001583	missense			ENST00000391884.1	1	1	hg19	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517175	0.64634	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94862	-3.54;-3.54	4.36	2.15	0.27550	.	0.357017	0.28262	N	0.016000	D	0.92133	0.7506	N	0.08118	0	0.47065	D	0.999305	D	0.89917	1.0	D	0.97110	1.0	D	0.90891	0.4761	10	0.87932	D	0	.	8.9956	0.36050	0.0:0.162:0.6701:0.1679	.	51	Q9UNX9	IRK14_HUMAN	H	51	ENSP00000341479:R51H;ENSP00000375756:R51H	ENSP00000341479:R51H	R	+	2	0	KCNJ14	53656945	1.000000	0.71417	0.981000	0.43875	0.254000	0.26022	9.436000	0.97532	0.553000	0.29044	-0.165000	0.13383	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	1	0	0	17	55	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999809e-01	15	55	0	15	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
KCNJ14	3770	broad.mit.edu	37	19	48965137	48965137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965137C>T	ENST00000391884.1	+	1	632	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNJ14_ENST00000342291.2_Silent_p.F52F			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14			10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Yohimbine(DB01392)	GCGGTCGCTTCGTCAAGAAAG	0.706000													NSCLC(148;170 3504 35216)											0							SO:0001819	synonymous_variant			ENST00000391884.1	1	1	hg19	CCDS12721.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	1	0	0	16	64	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999568e-01	16	62	0	18	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999873	0.990000	1	9.900000e-01	1
KCNJ14	3770	broad.mit.edu	37	19	48965230	48965230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965230C>T	ENST00000391884.1	+	1	725	c.249C>T	c.(247-249)gaC>gaT	p.D83D	KCNJ14_ENST00000342291.2_Silent_p.D83D			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14			10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Yohimbine(DB01392)	CATGCGTGGACGTGCGCTGGC	0.642000													NSCLC(148;170 3504 35216)											0							SO:0001819	synonymous_variant			ENST00000391884.1	1	1	hg19	CCDS12721.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	1	0	1	29	117	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	29	116	0	34	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KCNJ14	3770	broad.mit.edu	37	19	48965405	48965405	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965405C>A	ENST00000391884.1	+	1	900	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14			10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Yohimbine(DB01392)	CCTCTTCGCGCTGGAGACGCA	0.721000													NSCLC(148;170 3504 35216)											0							SO:0001583	missense			ENST00000391884.1	0	1	hg19	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723657	0.68959	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.95069	-3.6;-3.6	4.69	4.69	0.59074	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.64402	D	0.000005	D	0.94653	0.8276	L	0.52573	1.65	0.50813	D	0.999895	P	0.46952	0.887	P	0.57548	0.823	D	0.94311	0.7545	10	0.72032	D	0.01	.	9.2025	0.37268	0.0:0.9:0.0:0.1	.	142	Q9UNX9	IRK14_HUMAN	M	142	ENSP00000341479:L142M;ENSP00000375756:L142M	ENSP00000341479:L142M	L	+	1	2	KCNJ14	53657217	0.006000	0.16342	1.000000	0.80357	0.972000	0.66771	0.017000	0.13399	2.323000	0.78572	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	1	0	1	9	50	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	9.954557e-01	9	50	0	13	2								-19.980900	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.880000	1.000000	1.000000	0.993173	0.990000	1	9.900000e-01	1
ARRDC5	645432	broad.mit.edu	37	19	4896836	4896836	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896836A>G	ENST00000381781.2	-	2	347	c.348T>C	c.(346-348)ccT>ccC	p.P116P		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5			12					GAAGCCTGGGAGGTAAGTTGA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000381781.2	1	1	hg19	CCDS45929.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	1	0	1	68	365	0	112	0	0	0	1	0	112	2		0	0	0	0	0	2	1	1	66	354	0	110	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYTH2	9266	broad.mit.edu	37	19	48977504	48977504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48977504C>T	ENST00000452733.2	+	7	1089	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	CYTH2_ENST00000427476.1_Missense_Mutation_p.R205W			Q99418	CYH2_HUMAN	cytohesin 2			15					TCCCAATGTCCGGGACAAGCC	0.637000																								0							SO:0001583	missense			ENST00000452733.2	1	1	hg19	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462289	0.63513	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.55930	0.49;0.49;0.49	4.16	0.172	0.15031	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.70903	2.155	0.54753	D	0.999981	D	0.65815	0.995	D	0.63793	0.918	T	0.68693	-0.5341	10	0.87932	D	0	.	11.7766	0.51989	0.3952:0.6048:0.0:0.0	.	205	Q99418-2	.	W	205;205;227	ENSP00000408236:R205W;ENSP00000391648:R205W;ENSP00000314566:R227W	ENSP00000314566:R227W	R	+	1	2	CYTH2	53669316	0.954000	0.32549	0.971000	0.41717	0.651000	0.38670	1.644000	0.37228	0.320000	0.23234	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	1	0	1	97	500	0	91	1	1	105	263	0	91	2		0	0	0	0	0	2	1	1	97	482	0	89	2								-2.811521	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMTK3	114783	broad.mit.edu	37	19	49001742	49001742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49001742G>T	ENST00000600059.1	-	11	2811	c.2584C>A	c.(2584-2586)Ctg>Atg	p.L862M	LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3			16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)			GACATCAGCAGCTGTTCCGTG	0.706000																								0							SO:0001583	missense			ENST00000600059.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.959	0.746601	0.15710	.	.	ENSG00000142235	ENST00000270238	D	0.86366	-2.11	3.37	1.09	0.20402	.	0.407546	0.17495	N	0.172205	D	0.84120	0.5402	N	0.14661	0.345	0.24288	N	0.995175	D	0.76494	0.999	D	0.66716	0.946	T	0.74147	-0.3759	10	0.52906	T	0.07	.	7.5999	0.28069	0.2278:0.0:0.7722:0.0	.	862	Q96Q04	LMTK3_HUMAN	M	891	ENSP00000270238:L891M	ENSP00000270238:L891M	L	-	1	2	LMTK3	53693554	0.172000	0.23043	0.992000	0.48379	0.408000	0.30992	0.810000	0.27183	0.253000	0.21552	0.449000	0.29647	CTG		TCGA-IB-7651-01A-11D-2154-08	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	1	0	0	9	40	0	10	1	9.231091e-01	12	11	0	10	2		0	0	0	0	0	2	1	9.947707e-01	8	39	0	10	2								-17.977100	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997062	0.990000	1	9.900000e-01	1
RPL18	6141	broad.mit.edu	37	19	49119337	49119337	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49119337G>A	ENST00000549920.1	-	5	812	c.420C>T	c.(418-420)tcC>tcT	p.S140S	FAM83E_ENST00000595110.1_5'Flank|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000552588.1_Splice_Site_p.S111S|RPL18_ENST00000550645.1_Intron|RPL18_ENST00000549273.1_Splice_Site_p.S140S	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18			3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			ATCACTCACCGGAGAGCAGGA	0.652000																								0							SO:0001630	splice_region_variant			ENST00000549920.1	1	0	hg19	CCDS12726.1	.	.	.	.	.	.	.	.	.	.	G	4.252	0.045780	0.08196	0.0	1.16E-4	ENSG00000063177	ENST00000084795;ENST00000546623	.	.	.	4.74	-2.69	0.06022	.	.	.	.	.	T	0.50257	0.1605	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40590	-0.9555	4	.	.	.	-12.0717	6.6251	0.22824	0.4645:0.0:0.4143:0.1212	.	.	.	.	W	142;119	.	.	R	-	1	2	RPL18	53811149	0.977000	0.34250	0.956000	0.39512	0.117000	0.20001	0.122000	0.15687	-0.953000	0.03645	-1.202000	0.01658	CGG		TCGA-IB-7651-01A-11D-2154-08	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	1	0	0	16	379	0	67	1	1	314	5060	0	67	2		0	0	0	0	0	2	1	9.999237e-01	15	371	0	67	2								-2.729352	1	1	121410	8	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.500000	0.290000	1.000000	0.480000	0.542361	0.500000	0	3.800000e-01	6.700000e-01
RPL18	6141	broad.mit.edu	37	19	49120059	49120059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49120059C>T	ENST00000549920.1	-	4	613	c.221G>A	c.(220-222)gGc>gAc	p.G74D	FAM83E_ENST00000595110.1_5'Flank|SPHK2_ENST00000600537.1_5'Flank|AC022154.7_ENST00000600303.1_RNA|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000245222.4_5'Flank|RPL18_ENST00000550645.1_Missense_Mutation_p.G74D|SPHK2_ENST00000601712.1_5'Flank|RPL18_ENST00000549273.1_Missense_Mutation_p.G74D|SPHK2_ENST00000598088.1_5'Flank|SPHK2_ENST00000340932.3_5'Flank	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18			3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			GTTTTCCCGGCCAGGAAGCTT	0.577000																								0							SO:0001583	missense			ENST00000549920.1	1	1	hg19	CCDS12726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.665205|4.665205	0.88251|0.88251	.|.	.|.	ENSG00000063177|ENSG00000063177	ENST00000549920;ENST00000550645;ENST00000552588;ENST00000549273;ENST00000550973;ENST00000450952|ENST00000084795;ENST00000546623	.|.	.|.	.|.	4.34|4.34	4.34|4.34	0.51931|0.51931	Ribosomal protein L18e/L15P (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69169|.	0.3081|.	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P;B|.	0.41008|.	0.735;0.001|.	B;B|.	0.34931|.	0.192;0.019|.	T|.	0.68108|.	-0.5496|.	9|.	0.48119|.	T|.	0.1|.	-17.543|-17.543	14.7267|14.7267	0.69349|0.69349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74;74|.	B4DDY5;Q07020|.	.;RL18_HUMAN|.	D|X	74;74;45;74;22;74|75;46	.|.	ENSP00000407348:G74D|.	G|W	-|-	2|3	0|0	RPL18|RPL18	53811871|53811871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.579000|6.579000	0.74036|0.74036	2.426000|2.426000	0.82243|0.82243	0.478000|0.478000	0.44815|0.44815	GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	0	0	0	12	407	0	103	1	1	97	3592	0	103	2		0	0	0	0	0	2	1	9.990078e-01	11	398	0	103	2								-3.273455	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.350000	0.190000	1.000000	0.340000	0.413901	0.350000	0	2.600000e-01	5.000000e-01
DBP	1628	broad.mit.edu	37	19	49134162	49134162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134162C>T	ENST00000222122.5	-	4	1353	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DBP_ENST00000593500.1_Missense_Mutation_p.V102M|DBP_ENST00000599385.1_Missense_Mutation_p.V102M	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein			5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)			TCCTGGCGCACGGCCACAACT	0.697000																								0							SO:0001583	missense			ENST00000222122.5	0	1	hg19	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462057	0.43736	.	.	ENSG00000105516	ENST00000222122	T	0.44083	0.93	4.28	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.187492	0.43919	U	0.000519	T	0.28101	0.0693	N	0.16266	0.395	0.37155	D	0.902331	B	0.33739	0.422	B	0.38458	0.274	T	0.25641	-1.0126	10	0.44086	T	0.13	-14.5292	8.2508	0.31717	0.0:0.8921:0.0:0.1079	.	304	Q10586	DBP_HUMAN	M	304	ENSP00000222122:V304M	ENSP00000222122:V304M	V	-	1	0	DBP	53825974	0.002000	0.14202	0.971000	0.41717	0.865000	0.49528	-0.017000	0.12590	2.364000	0.80123	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	1	0	1	17	74	0	12	1	9.999996e-01	33	100	0	12	2		0	0	0	0	0	2	1	9.999816e-01	17	74	0	12	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999847	0.990000	1	9.900000e-01	1
DBP	1628	broad.mit.edu	37	19	49134254	49134254	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134254C>T	ENST00000222122.5	-	4	1261	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DBP_ENST00000593500.1_Missense_Mutation_p.R71H|DBP_ENST00000599385.1_Missense_Mutation_p.R71H	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein			5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)			CCGGGCGTCACGGGACCGCTT	0.642000																								0							SO:0001583	missense			ENST00000222122.5	1	1	hg19	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809129	0.90707	.	.	ENSG00000105516	ENST00000222122	T	0.72167	-0.63	4.81	4.81	0.61882	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	U	0.000000	D	0.89612	0.6765	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93238	0.6623	10	0.87932	D	0	-16.2193	15.7386	0.77866	0.0:1.0:0.0:0.0	.	273	Q10586	DBP_HUMAN	H	273	ENSP00000222122:R273H	ENSP00000222122:R273H	R	-	2	0	DBP	53826066	1.000000	0.71417	0.794000	0.32065	0.938000	0.57974	5.689000	0.68234	2.364000	0.80123	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	1	0	1	32	112	0	33	1	1	55	119	0	33	2		0	0	0	0	0	2	1	1	31	110	0	33	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTN5	126147	broad.mit.edu	37	19	49167894	49167894	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49167894G>A	ENST00000270235.4	-	3	857	c.762C>T	c.(760-762)tgC>tgT	p.C254C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5			10					ACCCAGGTTGGCAGTAGTGGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000270235.4	1	1	hg19	CCDS33068.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	1	0	0	21	134	0	33	0	1.493088e-01	0	5	0	33	2		0	0	0	0	0	2	1	9.999983e-01	20	133	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998736	0.990000	1	9.900000e-01	1
FUT2	2524	broad.mit.edu	37	19	49206490	49206490	+	Missense_Mutation	SNP	G	G	A	rs112722916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49206490G>A	ENST00000425340.2	+	2	394	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)			7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			CGGGCGGCCCGCCTTCATCCC	0.652000																								0							SO:0001583	missense			ENST00000425340.2	1	1	hg19	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956907	0.53293	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96856	-4.15;-4.15;-4.15	4.19	4.19	0.49359	.	.	.	.	.	D	0.97961	0.9329	M	0.84326	2.69	0.35320	D	0.784649	D	0.89917	1.0	D	0.97110	1.0	D	0.99970	1.1963	9	0.66056	D	0.02	.	14.4048	0.67075	0.0:0.0:1.0:0.0	.	93	Q10981	FUT2_HUMAN	T	93	ENSP00000430227:A93T;ENSP00000387498:A93T;ENSP00000375748:A93T	ENSP00000375748:A93T	A	+	1	0	FUT2	53898302	1.000000	0.71417	0.894000	0.35097	0.049000	0.14656	4.284000	0.58983	2.037000	0.60232	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	1	0	1	39	204	0	45	1	9.999989e-01	46	68	0	45	2		0	0	0	0	0	2	1	9.990723e-01	38	194	1	46	17								-20.000000	1	0	121268	6	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FUT2	2524	broad.mit.edu	37	19	49207006	49207006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49207006G>A	ENST00000425340.2	+	2	910	c.793G>A	c.(793-795)Gat>Aat	p.D265N	FUT2_ENST00000391876.4_Missense_Mutation_p.D265N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)			7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			GTTTGCTGGCGATGGCATTGA	0.547000																								0							SO:0001583	missense			ENST00000425340.2	0	1	hg19	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074326	0.01903	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.96587	-4.06;-4.06	5.25	-3.23	0.05109	.	.	.	.	.	D	0.86543	0.5958	N	0.01779	-0.725	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.73148	-0.4074	8	.	.	.	.	14.106	0.65091	0.3518:0.0:0.6482:0.0	.	265	Q10981	FUT2_HUMAN	N	265	ENSP00000387498:D265N;ENSP00000375748:D265N	.	D	+	1	0	FUT2	53898818	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-0.826000	0.04429	-0.736000	0.04831	-0.275000	0.10095	GAT		TCGA-IB-7651-01A-11D-2154-08	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	0	0	0	12	805	0	159	1	7.573421e-01	8	175	0	159	2		0	0	0	0	0	2	1	9.990317e-01	12	793	0	159	2								-2.621405	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.180000	0.090000	1.000000	0.170000	0.253011	0.180000	0	1.300000e-01	2.600000e-01
RASIP1	54922	broad.mit.edu	37	19	49232824	49232824	+	Silent	SNP	C	C	T	rs147351682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49232824C>T	ENST00000222145.4	-	5	1407	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1			21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			GCTGCTCTCGCGTCATCACAT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000222145.4	0	0	hg19	CCDS12731.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	1	0	1	8	53	0	10	0	6.245941e-01	1	14	0	10	2		0	0	0	0	0	2	1	9.889363e-01	8	50	0	10	2								-15.126360	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.982769	0.990000	1	9.900000e-01	1
BCAT2	587	broad.mit.edu	37	19	49303312	49303312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49303312C>T	ENST00000316273.6	-	5	469	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BCAT2_ENST00000402551.1_Missense_Mutation_p.E113K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	p.E153K(1)		12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		L-Isoleucine(DB00167)|L-Leucine(DB00149)	TTGTCCACTTCGATGAGCCGG	0.642000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000316273.6	1	1	hg19	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	5.292	0.239195	0.10023	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.16324	2.35;2.35;2.35	4.86	1.33	0.21861	.	0.159471	0.53938	D	0.000054	T	0.05686	0.0149	N	0.05306	-0.075	0.53005	D	0.999963	B;B;B;B	0.24963	0.013;0.115;0.002;0.115	B;B;B;B	0.19391	0.01;0.025;0.002;0.015	T	0.38628	-0.9652	10	0.02654	T	1	-7.9185	8.2993	0.32004	0.0:0.6183:0.2964:0.0852	.	113;153;61;153	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	K	153;61;113	ENSP00000322991:E153K;ENSP00000440973:E61K;ENSP00000385161:E113K	ENSP00000322991:E153K	E	-	1	0	BCAT2	53995124	0.047000	0.20315	0.007000	0.13788	0.559000	0.35586	1.230000	0.32612	0.152000	0.19188	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1	1	0	0	67	212	0	52	1	1	46	74	0	52	2		0	0	0	0	0	2	1	1	65	204	0	52	2								-4.662553	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHA4	57664	broad.mit.edu	37	19	49357476	49357476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49357476C>A	ENST00000263265.6	-	10	1648	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4			30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)			CAACTTACATCTGTCTCCAAG	0.512000																								0							SO:0001583	missense			ENST00000263265.6	1	1	hg19	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936060	0.73442	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.39056	1.1;1.1	5.2	5.2	0.72013	.	0.367900	0.25380	N	0.031082	T	0.61825	0.2378	M	0.64997	1.995	0.39509	D	0.968337	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.65672	-0.6111	10	0.87932	D	0	.	14.6028	0.68453	0.0:1.0:0.0:0.0	.	340;365	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	Y	365;340	ENSP00000263265:D365Y;ENSP00000347683:D340Y	ENSP00000263265:D365Y	D	-	1	0	PLEKHA4	54049288	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.439000	0.52878	2.580000	0.87095	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1	1	0	1	120	468	0	123	1	9.999535e-01	7	51	0	123	2		0	0	0	0	0	2	1	1	119	463	0	118	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHA4	57664	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4			30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)			CTCGCCCTCCGCATCTGGAGT	0.637000																								0							SO:0001583	missense			ENST00000263265.6	1	1	hg19	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	PLEKHA4	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1	1	0	1	40	176	0	53	1	9.994165e-01	9	44	0	53	2		0	0	0	0	0	2	1	1	39	172	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R15A	23645	broad.mit.edu	37	19	49377870	49377870	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49377870C>A	ENST00000200453.5	+	2	1649	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A			23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			CAGAAGCAGCCTTGGGAGAAG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000200453.5	0	1	hg19	CCDS12738.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	0	0	0	9	462	0	100	1	9.033450e-01	2	212	0	100	2		0	0	0	0	0	2	1	9.935364e-01	8	450	0	98	2								-8.025026	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.240000	0.110000	1.000000	0.230000	0.309175	0.240000	0	1.700000e-01	3.600000e-01
PPP1R15A	23645	broad.mit.edu	37	19	49378030	49378030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49378030C>T	ENST00000200453.5	+	2	1809	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	p.P514S(1)		23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			CATCTATGTACCTGGAGAGAA	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000200453.5	1	1	hg19	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321945	0.81580	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15256	2.44	4.43	4.43	0.53597	.	0.092903	0.35349	N	0.003273	T	0.33381	0.0861	L	0.54323	1.7	0.39850	D	0.973228	D	0.89917	1.0	D	0.85130	0.997	T	0.03403	-1.1040	10	0.20519	T	0.43	-15.4289	13.3017	0.60328	0.0:1.0:0.0:0.0	.	514	O75807	PR15A_HUMAN	S	514;354;472	ENSP00000200453:P514S	ENSP00000200453:P514S	P	+	1	0	PPP1R15A	54069842	0.978000	0.34361	0.957000	0.39632	0.936000	0.57629	2.332000	0.43903	2.414000	0.81942	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	1	0	1	81	321	0	83	1	1	51	178	0	83	2		0	0	0	0	0	2	1	1	77	314	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R15A	23645	broad.mit.edu	37	19	49379046	49379046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49379046G>A	ENST00000200453.5	+	3	2110	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A			23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			GCCCGGGCCAGAGCCTGGGCA	0.692000																								0							SO:0001583	missense			ENST00000200453.5	1	1	hg19	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485260	0.63962	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15834	2.39	4.96	2.66	0.31614	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.153148	0.39909	N	0.001222	T	0.15132	0.0365	L	0.35414	1.06	0.33439	D	0.582152	P	0.47484	0.896	P	0.47470	0.548	T	0.15492	-1.0435	10	0.66056	D	0.02	-17.293	6.0042	0.19537	0.1016:0.1936:0.7048:0.0	.	614	O75807	PR15A_HUMAN	K	614;454;572	ENSP00000200453:R614K	ENSP00000200453:R614K	R	+	2	0	PPP1R15A	54070858	0.728000	0.28080	1.000000	0.80357	0.997000	0.91878	1.044000	0.30329	1.404000	0.46819	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	1	0	0	160	1773	0	275	1	9.999710e-01	22	135	0	275	2		0	0	0	0	0	2	1	1	156	1687	0	270	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.980000	0.840000	1.000000	1.000000	0.964958	0.980000	1	9.000000e-01	1
GYS1	2997	broad.mit.edu	37	19	49473039	49473039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49473039G>A	ENST00000323798.3	-	15	2079	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	GYS1_ENST00000263276.6_Missense_Mutation_p.A564V|GYS1_ENST00000544287.1_Missense_Mutation_p.A261V|GYS1_ENST00000541188.1_Missense_Mutation_p.A548V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)			22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)			CACCGCATCCGCCTCGTTGGG	0.612000																								0							SO:0001583	missense			ENST00000323798.3	1	1	hg19	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988775	0.18966	2.27E-4	0.0	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.43	3.3	0.37823	.	0.246452	0.40222	N	0.001156	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P	0.41929	0.765;0.529;0.637	B;B;B	0.34301	0.179;0.102;0.179	T	0.10847	-1.0612	10	0.11485	T	0.65	-7.818	9.6035	0.39619	0.1748:0.0:0.8252:0.0	.	548;564;628	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	V	628;564;548;261	ENSP00000317904:A628V;ENSP00000263276:A564V;ENSP00000437922:A548V;ENSP00000444004:A261V	ENSP00000263276:A564V	A	-	2	0	GYS1	54164851	0.932000	0.31603	0.665000	0.29768	0.152000	0.21847	3.622000	0.54217	0.767000	0.33267	-0.140000	0.14226	GCG		TCGA-IB-7651-01A-11D-2154-08	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	1	0	1	51	230	0	71	1	9.971628e-01	10	33	0	71	2	0	0	0	1	0	0	2	1	1	50	223	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UHRF1	29128	broad.mit.edu	37	19	4950688	4950688	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4950688G>A	ENST00000592666.1	+	0	2159							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1	p.R541Q(2)		16					AAGGACTGGCGGTCGGGGAAG	0.607000																								2	Substitution - Missense(2)										ENST00000592666.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.6	4.025035	0.75390	0.0	1.22E-4	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.84	4.84	0.62591	SRA-YDG (4);	0.056632	0.64402	D	0.000002	T	0.75133	0.3808	L	0.49640	1.575	0.43000	D	0.994518	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.524	T	0.76170	-0.3057	8	0.49607	T	0.09	-27.198	17.9546	0.89064	0.0:0.0:1.0:0.0	.	541;528	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Q	528;143;528;528;541	.	ENSP00000262952:R528Q	R	+	2	0	UHRF1	4901688	1.000000	0.71417	0.886000	0.34754	0.920000	0.55202	5.265000	0.65519	2.248000	0.74166	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	0	0	0	39	160	0	39	1	9.585940e-01	10	14	0	39	2		0	0	0	0	0	2	1	1	37	150	0	48	2								-20.000000	1	1	120780	2	26	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RUVBL2	10856	broad.mit.edu	37	19	49507607	49507607	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49507607G>T	ENST00000595090.1	+	4	661	c.197G>T	c.(196-198)gGg>gTg	p.G66V	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G21V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2			2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			ATCCGGGAAGGGAAGATTGCC	0.662000																								0							SO:0001583	missense			ENST00000595090.1	1	1	hg19	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871445	0.91587	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.51325	0.71;0.8	4.74	4.74	0.60224	TIP49, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	H	0.98089	4.145	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.995;0.978;0.981	D	0.87759	0.2597	10	0.87932	D	0	-53.1308	15.594	0.76562	0.0:0.0:1.0:0.0	.	66;66;32	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	V	66;21	ENSP00000221413:G66V;ENSP00000413890:G21V	ENSP00000221413:G66V	G	+	2	0	RUVBL2	54199419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.639000	0.91023	2.366000	0.80165	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1	1	0	1	90	426	0	75	1	1	42	76	0	75	2		0	0	0	0	0	2	1	1	87	424	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RUVBL2	10856	broad.mit.edu	37	19	49510398	49510398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510398G>A	ENST00000595090.1	+	5	853	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RUVBL2_ENST00000413176.2_Missense_Mutation_p.R85H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2			2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			ATCGGCGTTCGCATCAAGTAA	0.657000																								0							SO:0001583	missense			ENST00000595090.1	1	1	hg19	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829808	0.71258	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.58652	0.32;0.55	5.33	5.33	0.75918	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	H	0.94542	3.55	0.80722	D	1	D;P;D	0.89917	1.0;0.458;0.999	D;B;D	0.65233	0.926;0.07;0.933	D	0.86680	0.1916	10	0.72032	D	0.01	-22.1592	16.8831	0.86068	0.0:0.0:1.0:0.0	.	130;130;96	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	H	130;85	ENSP00000221413:R130H;ENSP00000413890:R85H	ENSP00000221413:R130H	R	+	2	0	RUVBL2	54202210	1.000000	0.71417	0.985000	0.45067	0.551000	0.35334	8.874000	0.92363	2.667000	0.90743	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1	1	0	0	20	488	0	84	1	9.996049e-01	6	300	0	84	2		0	0	0	0	0	2	1	9.999941e-01	19	477	0	82	2								-2.893894	1	1	120840	6	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.480000	0.290000	1.000000	0.460000	0.525820	0.480000	0	3.800000e-01	6.300000e-01
RUVBL2	10856	broad.mit.edu	37	19	49510577	49510577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510577C>T	ENST00000595090.1	+	6	878	c.414C>T	c.(412-414)atC>atT	p.I138I	RUVBL2_ENST00000413176.2_Silent_p.I93I|RUVBL2_ENST00000601968.1_Silent_p.I93I	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2			2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			CGGAGATCATCGAAGGGGAGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000595090.1	1	1	hg19	CCDS42588.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1	1	0	0	28	281	0	63	1	9.999999e-01	26	243	0	63	2		0	0	0	0	0	2	1	1	28	275	0	62	2								-10.094360	1	1	121040	1	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.740000	1.000000	1.000000	0.964988	0.990000	1	9.000000e-01	1
RUVBL2	10856	broad.mit.edu	37	19	49513315	49513315	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49513315G>T	ENST00000595090.1	+	8	1119	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G174C|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2			2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			CGACGCTATGGGCTCCCAGGT	0.652000																								0							SO:0001583	missense			ENST00000595090.1	1	1	hg19	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038964	0.75617	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.47177	0.85	4.19	4.19	0.49359	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.85128	0.0973	10	0.87932	D	0	-33.5793	14.4091	0.67103	0.0:0.0:1.0:0.0	.	219;219;185	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	C	219;174	ENSP00000413890:G174C	ENSP00000221413:G219C	G	+	1	0	RUVBL2	54205127	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	8.327000	0.90012	2.341000	0.79615	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1	1	0	1	49	191	0	36	1	1	91	227	0	36	2		0	0	0	0	0	2	1	1	46	189	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CGB1	114335	broad.mit.edu	37	19	49539472	49539472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49539472G>A	ENST00000301407.7	-	2	202	c.98C>T	c.(97-99)aCc>aTc	p.T33I	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.T33I	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1			2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			CACAGCCAGGGTGGCATTGAT	0.672000																								0							SO:0001583	missense			ENST00000301407.7	0	1	hg19	CCDS12751.2	.	.	.	.	.	.	.	.	.	.	g	5.170	0.216905	0.09810	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	D;D	0.92099	-2.97;-2.97	1.79	1.79	0.24919	.	0.111798	0.64402	D	0.000014	D	0.87997	0.6319	.	.	.	0.36859	D	0.888294	B	0.27656	0.184	B	0.32149	0.141	D	0.87299	0.2304	9	0.51188	T	0.08	-22.3916	9.6174	0.39701	0.0:0.0:1.0:0.0	.	33	A6NKQ9-2	.	I	33	ENSP00000301407:T33I;ENSP00000375742:T33I	ENSP00000301407:T33I	T	-	2	0	CGB1	54231284	1.000000	0.71417	0.999000	0.59377	0.145000	0.21501	3.163000	0.50763	1.313000	0.45069	0.184000	0.17185	ACC		TCGA-IB-7651-01A-11D-2154-08	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316746.4	0	0	0	87	498	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	9.999998e-01	37	175	1	145	7								-3.076090	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNA7	3743	broad.mit.edu	37	19	49573470	49573470	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49573470G>A	ENST00000221444.1	-	2	1576	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7			11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Dalfampridine(DB06637)	CAGCCTCTTCGCCCTCTGTCT	0.592000													Colon(74;686 1235 3793 23366 48562)											0							SO:0001819	synonymous_variant			ENST00000221444.1	1	1	hg19	CCDS12755.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	1	0	1	79	258	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	77	252	0	63	2								-4.481606	1	1	121412	5	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNA7	3743	broad.mit.edu	37	19	49575299	49575299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49575299C>T	ENST00000221444.1	-	1	899	c.544G>A	c.(544-546)Gca>Aca	p.A182T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7			11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Dalfampridine(DB06637)	GGGCCGGCTGCGGCTGCAGCA	0.701000													Colon(74;686 1235 3793 23366 48562)											0							SO:0001583	missense			ENST00000221444.1	1	1	hg19	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833847	0.32421	.	.	ENSG00000104848	ENST00000221444	D	0.97665	-4.48	4.28	4.28	0.50868	.	1.488200	0.03933	N	0.285642	D	0.94368	0.8189	L	0.29908	0.895	0.29307	N	0.868284	B	0.09022	0.002	B	0.04013	0.001	T	0.80837	-0.1204	10	0.11182	T	0.66	.	14.6178	0.68560	0.0:1.0:0.0:0.0	.	182	Q96RP8	KCNA7_HUMAN	T	182	ENSP00000221444:A182T	ENSP00000221444:A182T	A	-	1	0	KCNA7	54267111	0.022000	0.18835	0.086000	0.20670	0.007000	0.05969	3.360000	0.52299	2.134000	0.65973	0.485000	0.47835	GCA		TCGA-IB-7651-01A-11D-2154-08	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	1	0	0	25	84	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999999e-01	24	82	0	12	2								-20.000000	1	1	116274	2	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SNRNP70	6625	broad.mit.edu	37	19	49611533	49611533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49611533C>T	ENST00000598441.1	+	10	1371	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R374W			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)			12					acggggggagcggggcagtga	0.721000																								0							SO:0001583	missense			ENST00000598441.1	0	1	hg19	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408900	0.42715	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	.	.	.	3.54	2.47	0.30058	.	0.000000	0.64402	U	0.000002	T	0.53270	0.1786	N	0.24115	0.695	0.51482	D	0.99992	D;D	0.89917	0.999;1.0	D;P	0.64321	0.924;0.846	T	0.55970	-0.8056	9	0.72032	D	0.01	-5.0902	10.7043	0.45946	0.0:0.8034:0.1966:0.0	.	383;374	P08621;P08621-2	RU17_HUMAN;.	W	383;287	.	ENSP00000221448:R383W	R	+	1	2	SNRNP70	54303345	0.944000	0.32072	1.000000	0.80357	0.735000	0.41995	1.292000	0.33342	0.809000	0.34255	-0.499000	0.04595	CGG		TCGA-IB-7651-01A-11D-2154-08	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	0	0	0	5	55	0	10	0	2.544316e-01	0	9	0	10	2		0	0	0	0	0	2	1	9.375959e-01	5	54	0	10	2								-10.220030	1	1	118776	2	22	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.410000	1.000000	1.000000	0.881300	0.990000	1	6.700000e-01	1
C19orf73	55150	broad.mit.edu	37	19	49621899	49621899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49621899G>A	ENST00000408991.2	-	1	498	c.381C>T	c.(379-381)ccC>ccT	p.P127P	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73			3					ACTAGTCCGAGGGCGGAGGGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000408991.2	1	1	hg19	CCDS42589.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1	0	0	0	22	585	0	90	1	1.612288e-01	2	17	0	90	2		0	0	0	0	0	2	1	9.999984e-01	22	571	0	89	2								-2.947827	1	1	121002	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.440000	0.280000	1.000000	0.420000	0.489592	0.440000	0	3.500000e-01	5.700000e-01
PPFIA3	8541	broad.mit.edu	37	19	49632175	49632175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49632175G>A	ENST00000334186.4	+	4	762	c.413G>A	c.(412-414)cGc>cAc	p.R138H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3			35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			GTGGTGAAGCGCCAGGCCCAG	0.597000																								0							SO:0001583	missense			ENST00000334186.4	1	1	hg19	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858546	0.97036	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.51325	0.71	4.74	4.74	0.60224	.	0.000000	0.44097	D	0.000481	T	0.56352	0.1979	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.61845	-0.6979	10	0.87932	D	0	-14.6239	17.0217	0.86435	0.0:0.0:1.0:0.0	.	62;138;138	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	H	138;62	ENSP00000335614:R138H	ENSP00000335614:R138H	R	+	2	0	PPFIA3	54323987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.596000	0.98267	2.646000	0.89796	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	1	0	1	82	407	0	77	1	8.286309e-01	12	6	0	77	2		0	0	0	0	0	2	1	1	78	398	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRC	3270	broad.mit.edu	37	19	49655301	49655301	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49655301G>A	ENST00000252825.4	-	4	2172	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C	HRC_ENST00000595625.1_Silent_p.C639C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein			34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			GGCAGAGATAGCAGAACTGAC	0.677000													Melanoma(37;75 1097 24567 25669 30645)											0							SO:0001819	synonymous_variant			ENST00000252825.4	1	1	hg19	CCDS12759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	0	0	0	9	267	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.937339e-01	9	260	0	52	2								-10.058830	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.410000	0.200000	1.000000	0.380000	0.466559	0.410000	0	2.900000e-01	6.100000e-01
HRC	3270	broad.mit.edu	37	19	49656971	49656971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein			34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			CATGATGGGTGCCTTTCTCTC	0.552000													Melanoma(37;75 1097 24567 25669 30645)											0							SO:0001819	synonymous_variant			ENST00000252825.4	1	1	hg19	CCDS12759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	1	0	1	52	218	0	48	0	1.001538e-01	0	3	0	48	2		0	0	0	0	0	2	1	1	52	210	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRC	3270	broad.mit.edu	37	19	49657295	49657295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49657295C>T	ENST00000252825.4	-	1	1386	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	HRC_ENST00000595625.1_Silent_p.K400K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein			34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			CTTCATCACTCTTGTGGCCTC	0.517000													Melanoma(37;75 1097 24567 25669 30645)											0							SO:0001819	synonymous_variant			ENST00000252825.4	1	1	hg19	CCDS12759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	1	0	1	93	454	0	93	0	2.957443e-02	0	2	0	93	2		0	0	0	0	0	2	1	1	92	448	0	90	2								-3.093818	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRC	3270	broad.mit.edu	37	19	49658323	49658323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49658323G>A	ENST00000252825.4	-	1	358	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	HRC_ENST00000595625.1_Missense_Mutation_p.R58C|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein			34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			AGGTGGTGGCGAAGCTCTGCT	0.577000													Melanoma(37;75 1097 24567 25669 30645)											0							SO:0001583	missense			ENST00000252825.4	1	1	hg19	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.619296	0.28801	.	.	ENSG00000130528	ENST00000252825	T	0.07114	3.22	3.26	-0.0384	0.13880	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.04013	0.001	T	0.38824	-0.9643	9	0.72032	D	0.01	-1.5384	4.9026	0.13782	0.0:0.604:0.1801:0.2159	.	58	P23327	SRCH_HUMAN	C	58	ENSP00000252825:R58C	ENSP00000252825:R58C	R	-	1	0	HRC	54350135	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.539000	0.23175	0.070000	0.16634	-0.220000	0.12472	CGC		TCGA-IB-7651-01A-11D-2154-08	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	1	0	1	107	510	0	111	0	1.434849e-01	0	4	0	111	2		0	0	0	0	0	2	1	1	106	501	0	110	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM4	54795	broad.mit.edu	37	19	49675021	49675021	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49675021G>T	ENST00000252826.5	+	8	1171	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S|TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4			49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)			GGTCCTGCAGGCCCAGGTATG	0.642000																								0							SO:0001583	missense			ENST00000252826.5	1	1	hg19	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331366	0.60853	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.35605	1.3;1.3;1.75	5.05	5.05	0.67936	.	0.161181	0.41823	D	0.000807	T	0.51312	0.1667	L	0.51422	1.61	0.23991	N	0.996245	B;D;D;B	0.76494	0.01;0.999;0.99;0.304	B;D;P;B	0.80764	0.029;0.994;0.829;0.105	T	0.40997	-0.9533	10	0.23891	T	0.37	-25.9946	14.2646	0.66107	0.0:0.0:1.0:0.0	.	66;175;349;349	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	349;349;66	ENSP00000252826:A349S;ENSP00000407492:A349S;ENSP00000347944:A66S	ENSP00000252826:A349S	A	+	1	0	TRPM4	54366833	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.828000	0.62730	2.529000	0.85273	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	1	0	1	34	137	0	26	1	9.999999e-01	46	67	0	26	2		0	0	0	0	0	2	1	1	34	135	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM4	54795	broad.mit.edu	37	19	49703979	49703979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49703979C>T	ENST00000252826.5	+	19	3016	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4			49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)			AAGTATCCTGCGCCGCGTCTT	0.617000																								0							SO:0001583	missense			ENST00000252826.5	1	1	hg19	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590570	0.66219	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.73469	-0.75;-0.75;-0.75	4.57	3.46	0.39613	.	0.123452	0.56097	D	0.000034	D	0.87509	0.6195	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.90009	0.4120	10	0.87932	D	0	-24.2806	13.4979	0.61436	0.1561:0.8439:0.0:0.0	.	610;790;819;964	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	964;819;610	ENSP00000252826:R964C;ENSP00000407492:R819C;ENSP00000347944:R610C	ENSP00000252826:R964C	R	+	1	0	TRPM4	54395791	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	3.521000	0.53472	2.271000	0.75665	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	1	0	1	48	282	0	53	1	1	62	114	0	53	2		0	0	0	0	0	2	1	1	47	273	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
TRPM4	54795	broad.mit.edu	37	19	49713653	49713653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49713653G>A	ENST00000252826.5	+	21	3445	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K|TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4			49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)			CCCGGCCCTCGAGCATTTCCG	0.622000																								0							SO:0001583	missense			ENST00000252826.5	1	1	hg19	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970452	0.34754	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.50548	0.74;0.74;0.74	4.51	-2.58	0.06228	.	13.009600	0.00166	N	0.000000	T	0.21674	0.0522	N	0.04373	-0.215	0.09310	N	1	B;B;B;B	0.18610	0.029;0.013;0.013;0.005	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.18241	-1.0343	10	0.08837	T	0.75	-9.0442	5.8779	0.18838	0.2718:0.4661:0.2621:0.0	.	753;933;962;1107	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	K	1107;962;753	ENSP00000252826:E1107K;ENSP00000407492:E962K;ENSP00000347944:E753K	ENSP00000252826:E1107K	E	+	1	0	TRPM4	54405465	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.756000	0.04777	-0.065000	0.13021	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	1	0	1	61	259	0	50	1	1	38	117	0	50	2		0	0	0	0	0	2	1	1	61	252	0	49	2								-3.334965	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A16	28968	broad.mit.edu	37	19	49812269	49812269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49812269G>T	ENST00000335875.4	-	7	1334	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.P365T	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16			32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			TTGGACTGGGGCATGTAGGAG	0.488000																								0							SO:0001583	missense			ENST00000335875.4	1	1	hg19	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215951	0.39201	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75050	-0.9;-0.9	4.38	-7.37	0.01412	.	0.693049	0.14340	N	0.325763	T	0.51517	0.1679	L	0.39566	1.225	0.09310	N	1	P;P	0.36789	0.57;0.57	B;B	0.37943	0.261;0.261	T	0.48896	-0.8994	10	0.23891	T	0.37	.	0.833	0.01134	0.2528:0.3354:0.1588:0.2531	.	365;365	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	T	365	ENSP00000338627:P365T;ENSP00000404022:P365T	ENSP00000338627:P365T	P	-	1	0	SLC6A16	54504081	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.867000	0.04241	-1.132000	0.02907	-0.258000	0.10820	CCC		TCGA-IB-7651-01A-11D-2154-08	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	1	0	1	117	506	0	166	0	3.566168e-02	1	1	0	166	2		0	0	0	0	0	2	1	1	115	493	0	164	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEAD2	8463	broad.mit.edu	37	19	49850619	49850619	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49850619T>C	ENST00000311227.2	-	9	827	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	TEAD2_ENST00000377214.4_Splice_Site_p.Y249C|TEAD2_ENST00000598810.1_Splice_Site_p.Y250C|TEAD2_ENST00000593945.1_Splice_Site_p.Y250C|TEAD2_ENST00000539846.1_Splice_Site_p.Y118C|TEAD2_ENST00000601519.1_Splice_Site_p.Y249C|TEAD2_ENST00000598397.1_5'UTR	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2			29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)			GTGCCTCTGGTACTGAGGAGG	0.632000																								0							SO:0001630	splice_region_variant			ENST00000311227.2	1	0	hg19	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321648	0.60634	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.37058	1.22;1.22;1.22	5.03	2.72	0.32119	.	0.354519	0.23528	N	0.047206	T	0.46054	0.1373	L	0.56396	1.775	0.39856	D	0.97331	D;B;D	0.69078	0.997;0.047;0.971	P;B;P	0.57776	0.827;0.117;0.813	T	0.46428	-0.9192	10	0.62326	D	0.03	-12.8121	8.2952	0.31982	0.3265:0.0:0.0:0.6735	.	118;246;249	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	C	246;249;118	ENSP00000310701:Y246C;ENSP00000366419:Y249C;ENSP00000437928:Y118C	ENSP00000310701:Y246C	Y	-	2	0	TEAD2	54542431	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.937000	0.40193	0.843000	0.35070	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	1	0	0	112	508	0	95	1	9.999841e-01	9	64	0	95	2		0	0	0	0	0	2	1	1	111	499	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DKKL1	27120	broad.mit.edu	37	19	49878129	49878129	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49878129C>T	ENST00000221498.2	+	5	978	c.573C>T	c.(571-573)agC>agT	p.S191S	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Silent_p.S49S	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1			3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			ACTGGCTCAGCGAGAAGCGAC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000221498.2	1	1	hg19	CCDS12762.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	1	0	1	35	192	0	50	1	4.234191e-01	4	5	0	50	2		0	0	0	0	0	2	1	1	35	188	0	50	2								-20.000000	1	1	121404	2	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
SLC17A7	57030	broad.mit.edu	37	19	49938140	49938140	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49938140C>A	ENST00000221485.3	-	4	606		c.e4-1		SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7			26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)			GCCGAAAACTCTGATGGGAAG	0.562000																								0							SO:0001630	splice_region_variant			ENST00000221485.3	1	1	hg19	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652502	0.67472	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0618	0.80841	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A7	54629952	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	7.191000	0.77763	2.741000	0.93983	0.585000	0.79938	.		TCGA-IB-7651-01A-11D-2154-08	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2	1	0	1	17	92	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.999753e-01	17	90	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999275	0.990000	1	9.900000e-01	1
PIH1D1	55011	broad.mit.edu	37	19	49952887	49952887	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49952887G>A	ENST00000262265.5	-	3	417	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1			11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)			CTTCCCTTCCGAGGAGTTGGT	0.542000																								0							SO:0001583	missense			ENST00000262265.5	1	1	hg19	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418996	0.25552	.	.	ENSG00000104872	ENST00000262265	T	0.16743	2.32	5.19	4.16	0.48862	.	0.562942	0.18438	N	0.141225	T	0.15565	0.0375	L	0.40543	1.245	0.09310	N	1	D;B	0.53462	0.96;0.044	B;B	0.43916	0.436;0.017	T	0.08680	-1.0710	10	0.32370	T	0.25	-2.1746	9.7784	0.40634	0.0949:0.0:0.9051:0.0	.	61;61	B4DGN7;Q9NWS0	.;PIHD1_HUMAN	L	61	ENSP00000262265:S61L	ENSP00000262265:S61L	S	-	2	0	PIH1D1	54644699	0.024000	0.19004	0.002000	0.10522	0.302000	0.27658	2.235000	0.43044	1.199000	0.43173	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	1	0	1	41	189	0	46	1	1	71	232	0	46	2		0	0	0	0	0	2	1	1	42	181	0	46	2								-19.999690	1	1	121412	2	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIH1D1	55011	broad.mit.edu	37	19	49954801	49954801	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49954801G>A	ENST00000262265.5	-	1	266	c.31C>T	c.(31-33)Cta>Tta	p.L11L	ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000455361.2_5'Flank|PIH1D1_ENST00000596049.1_Silent_p.L11L|ALDH16A1_ENST00000433981.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1			11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)			GCCTCGCTTAGCCCCATTCCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000262265.5	1	1	hg19	CCDS12765.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	1	0	1	92	408	0	96	1	1	107	224	0	96	2		0	0	0	0	0	2	1	1	89	403	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH16A1	126133	broad.mit.edu	37	19	49965961	49965961	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49965961A>G	ENST00000293350.4	+	8	1210	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000540132.1_Silent_p.A186A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|ALDH16A1_ENST00000433981.2_Silent_p.A184A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1			20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)			GGGCTGCCGCATGTGACCTGG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000293350.4	1	1	hg19	CCDS12766.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	1	0	1	50	252	0	42	1	9.602185e-01	6	23	0	42	2		0	0	0	0	0	2	1	1	47	247	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH16A1	126133	broad.mit.edu	37	19	49969029	49969029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49969029C>T	ENST00000293350.4	+	13	1766	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1			20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)			CGTTGGGGGCCGTTTCCAGGC	0.642000																								0							SO:0001583	missense			ENST00000293350.4	1	1	hg19	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249887	0.80024	2.27E-4	0.0	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.05	3.94	0.45596	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.723110	0.13548	N	0.379647	T	0.28797	0.0714	N	0.08118	0	0.43226	D	0.995112	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.56278	0.795;0.53;0.628	T	0.20438	-1.0275	10	0.87932	D	0	-19.8971	11.934	0.52864	0.1745:0.8255:0.0:0.0	.	372;484;535	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	C	535;484;372;370	ENSP00000293350:R535C;ENSP00000410142:R484C;ENSP00000445088:R372C;ENSP00000398675:R370C	ENSP00000293350:R535C	R	+	1	0	ALDH16A1	54660841	0.637000	0.27216	1.000000	0.80357	0.990000	0.78478	1.559000	0.36320	2.349000	0.79799	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	1	0	1	93	336	0	79	1	9.999444e-01	15	39	0	79	2		0	0	0	0	0	2	1	1	90	324	0	79	2								-3.961024	1	1	121412	1	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH16A1	126133	broad.mit.edu	37	19	49971803	49971803	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49971803C>A	ENST00000293350.4	+	15	2267	c.2104C>A	c.(2104-2106)Ctg>Atg	p.L702M	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1			20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)			CTGTCCTCTGCTGGCCCTGGA	0.667000																								0							SO:0001583	missense			ENST00000293350.4	1	1	hg19	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356634	0.24598	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.21	1.93	0.25924	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.190007	0.45606	D	0.000358	T	0.31482	0.0798	L	0.41492	1.28	0.22911	N	0.998579	P;D;P	0.53885	0.923;0.963;0.937	P;P;P	0.54629	0.621;0.757;0.739	T	0.06679	-1.0813	10	0.48119	T	0.1	-10.9114	4.8466	0.13516	0.0:0.6511:0.217:0.1319	.	539;651;702	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	M	702;651;539;537	ENSP00000293350:L702M;ENSP00000410142:L651M;ENSP00000445088:L539M;ENSP00000398675:L537M	ENSP00000293350:L702M	L	+	1	2	ALDH16A1	54663615	0.969000	0.33509	0.985000	0.45067	0.028000	0.11728	2.083000	0.41615	0.450000	0.26774	-0.494000	0.04653	CTG		TCGA-IB-7651-01A-11D-2154-08	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	1	0	1	170	743	0	150	1	9.999900e-01	21	51	0	150	2		0	0	0	0	0	2	1	1	167	730	0	147	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPS11	6205	broad.mit.edu	37	19	50001263	50001263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50001263C>T	ENST00000270625.2	+	4	396	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	hsa-mir-150_ENST00000602157.1_5'Flank|MIR150_ENST00000385048.1_RNA|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000594493.1_Missense_Mutation_p.R26C|RPS11_ENST00000599561.1_Missense_Mutation_p.A70V|RPS11_ENST00000596873.1_Missense_Mutation_p.R105C	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11			7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)			CTTCGAGAAGCGCCACAAGAA	0.567000																								0							SO:0001583	missense			ENST00000270625.2	1	1	hg19	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949952	0.53186	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.89	4.89	0.63831	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.109453	0.64402	N	0.000011	T	0.81740	0.4886	H	0.99712	4.72	0.80722	D	1	B	0.27229	0.172	B	0.13407	0.009	D	0.84106	0.0398	8	.	.	.	-23.5429	9.2385	0.37481	0.0:0.9009:0.0:0.0991	.	105	P62280	RS11_HUMAN	C	105	.	.	R	+	1	0	RPS11	54693075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.692000	0.61746	2.256000	0.74724	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	1	0	1	90	285	0	73	1	1	1482	5253	0	73	2		0	0	0	0	0	2	1	1	88	276	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCGRT	2217	broad.mit.edu	37	19	50027917	50027917	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50027917A>G	ENST00000221466.5	+	5	1241	c.755A>G	c.(754-756)aAc>aGc	p.N252S	RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha			9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)			TTCGGCCCCAACAGTGACGGA	0.632000																								0							SO:0001583	missense			ENST00000221466.5	1	1	hg19	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	A	7.758	0.704719	0.15172	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00623	6.15;6.15	4.31	3.3	0.37823	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000176	T	0.01976	0.0062	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62186	-0.6907	10	0.59425	D	0.04	.	6.6251	0.22824	0.8912:0.0:0.1088:0.0	.	252	P55899	FCGRN_HUMAN	S	252	ENSP00000221466:N252S;ENSP00000410798:N252S	ENSP00000221466:N252S	N	+	2	0	FCGRT	54719729	0.997000	0.39634	0.762000	0.31397	0.105000	0.19272	3.973000	0.56845	0.817000	0.34445	0.379000	0.24179	AAC		TCGA-IB-7651-01A-11D-2154-08	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1	0	0	0	15	355	0	71	1	1	37	1065	0	71	2		0	0	0	0	0	2	1	9.998445e-01	14	344	0	69	2								-16.033730	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.500000	0.280000	1.000000	0.480000	0.544024	0.500000	0	3.800000e-01	6.800000e-01
RCN3	57333	broad.mit.edu	37	19	50045888	50045888	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50045888G>A	ENST00000270645.3	+	6	1205	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain			12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)			CGGGACTTCCGGGATCTGAAC	0.682000																								0							SO:0001583	missense			ENST00000270645.3	0	1	hg19	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588961	0.96590	.	.	ENSG00000142552	ENST00000270645	T	0.54479	0.57	5.16	5.16	0.70880	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76876	-0.2797	10	0.30078	T	0.28	-30.9967	17.4697	0.87642	0.0:0.0:1.0:0.0	.	253	Q96D15	RCN3_HUMAN	Q	253	ENSP00000270645:R253Q	ENSP00000270645:R253Q	R	+	2	0	RCN3	54737700	1.000000	0.71417	0.977000	0.42913	0.794000	0.44872	9.121000	0.94375	2.421000	0.82119	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	1	0	0	5	60	0	22	1	9.999983e-01	53	677	0	22	2		0	0	0	0	0	2	1	9.401026e-01	5	60	0	21	2								-5.164227	1	1	121228	4	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.980000	0.380000	1.000000	1.000000	0.856125	0.980000	1	6.200000e-01	1
NOSIP	51070	broad.mit.edu	37	19	50060162	50060162	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060162G>A	ENST00000596358.1	-	6	565	c.507C>T	c.(505-507)ccC>ccT	p.P169P	NOSIP_ENST00000391853.3_Silent_p.P169P|NOSIP_ENST00000339093.3_Silent_p.P172P	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein			11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)			CCTTGGCTTCGGGCGTCAGCG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000596358.1	1	1	hg19	CCDS12772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1	1	0	0	22	105	0	20	1	1	83	222	0	20	2		0	0	0	0	0	2	1	9.999991e-01	21	102	0	20	2								-3.267923	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
NOSIP	51070	broad.mit.edu	37	19	50060441	50060441	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060441C>A	ENST00000596358.1	-	5	382	c.324G>T	c.(322-324)caG>caT	p.Q108H	NOSIP_ENST00000391853.3_Missense_Mutation_p.Q108H|NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein			11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)			GCACATGGTCCTGCGAGGCCG	0.677000																								0							SO:0001583	missense			ENST00000596358.1	1	1	hg19	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602309	0.46423	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.77098	-1.07;-1.07	5.15	2.95	0.34219	.	0.386687	0.27214	N	0.020382	T	0.67429	0.2892	L	0.42744	1.35	0.46701	D	0.999163	B	0.17852	0.024	B	0.16722	0.016	T	0.61182	-0.7114	10	0.52906	T	0.07	-32.2216	7.2859	0.26340	0.1672:0.7453:0.0:0.0875	.	108	Q9Y314	NOSIP_HUMAN	H	108	ENSP00000343497:Q108H;ENSP00000375726:Q108H	ENSP00000343497:Q108H	Q	-	3	2	NOSIP	54752253	0.990000	0.36364	0.964000	0.40570	0.526000	0.34562	0.233000	0.17911	0.527000	0.28560	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1	1	0	1	21	67	0	12	1	1	69	175	0	12	2		0	0	0	0	0	2	1	9.999991e-01	21	66	0	12	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PRR12	57479	broad.mit.edu	37	19	50098064	50098064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098064G>A	ENST00000418929.2	+	4	484	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12			11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)			GGCTTCCTTCGGCAGCCGCCC	0.667000																								0							SO:0001583	missense			ENST00000418929.2	1	1	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615774	0.28801	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.71	2.67	0.31697	.	.	.	.	.	T	0.13114	0.0318	.	.	.	0.24849	N	0.992416	B	0.24368	0.102	B	0.17098	0.017	T	0.31696	-0.9934	7	0.02654	T	1	.	5.27	0.15620	0.3422:0.0:0.6578:0.0	.	158	Q9ULL5-3	.	S	158	.	ENSP00000394510:G158S	G	+	1	0	PRR12	54789876	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.418000	0.34782	0.922000	0.37019	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	1	0	1	30	95	0	19	1	9.996710e-01	9	35	0	19	2		0	0	0	0	0	2	1	1	28	91	0	19	2								-20.000000	1	0	120774	3	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR12	57479	broad.mit.edu	37	19	50098142	50098142	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098142T>C	ENST00000418929.2	+	4	562	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12			11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)			CGGGCTCCTGTCCCCTCATGA	0.682000																								0							SO:0001583	missense			ENST00000418929.2	1	1	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908427	0.33721	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.77751	0.4177	.	.	.	0.36605	D	0.874868	D	0.76494	0.999	D	0.83275	0.996	D	0.83942	0.0312	7	0.72032	D	0.01	.	12.3339	0.55056	0.0:0.0:0.0:1.0	.	184	Q9ULL5-3	.	P	184	.	ENSP00000394510:S184P	S	+	1	0	PRR12	54789954	0.873000	0.30073	1.000000	0.80357	0.794000	0.44872	1.874000	0.39568	1.827000	0.53221	0.460000	0.39030	TCC		TCGA-IB-7651-01A-11D-2154-08	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	1	0	1	25	74	0	19	1	9.998238e-01	12	34	0	19	2		0	0	0	0	0	2	1	9.999999e-01	24	73	0	19	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR12	57479	broad.mit.edu	37	19	50099477	50099477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50099477G>T	ENST00000418929.2	+	4	1897	c.1885G>T	c.(1885-1887)Ggt>Tgt	p.G629C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12			11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)			GGCGGGCCCAGGTGGGCCTCC	0.682000																								0							SO:0001583	missense			ENST00000418929.2	1	1	hg19	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	3.307	-0.141698	0.06669	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.9	1.72	0.24424	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.50490	0.642	T	0.28170	-1.0052	7	0.66056	D	0.02	.	7.675	0.28480	0.2088:0.0:0.7912:0.0	.	629	Q9ULL5-3	.	C	629	.	ENSP00000394510:G629C	G	+	1	0	PRR12	54791289	0.095000	0.21747	0.096000	0.21009	0.741000	0.42261	0.801000	0.27055	0.439000	0.26476	0.289000	0.19496	GGT		TCGA-IB-7651-01A-11D-2154-08	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	1	0	1	34	165	0	32	1	9.047756e-01	5	17	0	32	2		0	0	0	0	0	2	1	1	33	162	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SCAF1	58506	broad.mit.edu	37	19	50161056	50161056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50161056G>A	ENST00000360565.3	+	10	3781	c.3657G>A	c.(3655-3657)gaG>gaA	p.E1219E	IRF3_ENST00000599680.1_5'Flank	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1			20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)			GGGCGGTGGAGGAGGTGAAGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000360565.3	1	1	hg19	CCDS33074.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	1	0	0	10	66	0	25	1	9.999964e-01	73	133	0	25	2		0	0	0	0	0	2	1	9.969559e-01	10	63	0	24	2								-18.142240	1	1	121382	1	14	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.810000	1.000000	1.000000	0.988792	0.990000	1	9.900000e-01	1
IRF3	3661	broad.mit.edu	37	19	50166680	50166680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50166680C>T	ENST00000597198.1	-	3	638	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000598808.1_5'UTR|BCL2L12_ENST00000246784.3_5'Flank|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000377139.3_Missense_Mutation_p.R86H			Q14653	IRF3_HUMAN	interferon regulatory factor 3			10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)			CCCTTCTTTGCGGTTGAGGGC	0.577000																								0							SO:0001583	missense			ENST00000597198.1	1	1	hg19	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017058	0.54576	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.97811	-4.55;-4.55;-4.55	4.92	4.92	0.64577	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.255793	0.32785	N	0.005658	D	0.98267	0.9426	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.973;0.999	D;P;P;P;D	0.68621	0.955;0.82;0.82;0.537;0.959	D	0.99157	1.0860	10	0.72032	D	0.01	-24.1366	15.961	0.79930	0.0:1.0:0.0:0.0	.	86;86;86;86;86	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	H	86	ENSP00000366344:R86H;ENSP00000310127:R86H;ENSP00000366339:R86H	ENSP00000310127:R86H	R	-	2	0	IRF3	54858492	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.047000	0.49854	2.451000	0.82905	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	1	0	1	52	219	0	55	1	1	76	229	0	55	2		0	0	0	0	0	2	1	1	52	214	0	54	2								-3.358847	1	1	121412	3	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPT1C	126129	broad.mit.edu	37	19	50203964	50203964	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50203964G>A	ENST00000392518.4	+	5	677	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C			27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)			CACGGGCTCCGGGGGGTCCTG	0.672000																								0							SO:0001583	missense			ENST00000392518.4	1	1	hg19	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	1.148	-0.647378	0.03506	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.47	-0.363	0.12556	.	0.620826	0.13466	N	0.385764	T	0.37705	0.1013	N	0.02142	-0.665	0.22185	N	0.999302	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.31558	-0.9939	10	0.08381	T	0.77	-23.8765	3.325	0.07063	0.377:0.2079:0.415:0.0	.	102;102;102	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	Q	102	ENSP00000376303:R102Q;ENSP00000346138:R102Q;ENSP00000384465:R102Q;ENSP00000319343:R102Q	ENSP00000319343:R102Q	R	+	2	0	CPT1C	54895776	0.154000	0.22792	0.936000	0.37596	0.025000	0.11179	0.712000	0.25779	0.142000	0.18901	-0.749000	0.03505	CGG		TCGA-IB-7651-01A-11D-2154-08	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	1	0	0	76	713	0	131	1	9.121630e-01	2	39	0	131	2		0	0	0	0	0	2	1	1	75	695	0	127	2								-2.415704	0	1	121408	6	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.910000	1.000000	1.000000	0.994353	0.990000	1	9.900000e-01	1
CPT1C	126129	broad.mit.edu	37	19	50212024	50212024	+	Silent	SNP	C	C	T	rs61747405	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50212024C>T	ENST00000392518.4	+	14	1866	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	CPT1C_ENST00000405931.2_Silent_p.D487D|CPT1C_ENST00000354199.5_Silent_p.D498D|CPT1C_ENST00000323446.5_Silent_p.D498D|CPT1C_ENST00000598293.1_Silent_p.D498D	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C			27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)			ACTCAACAGACGGCCACTGCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000392518.4	1	0	hg19	CCDS12779.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	0	0	1	130	599	0	134	1	9.510682e-01	3	22	0	134	2		0	0	0	0	0	2	1	1	128	590	0	132	2								-2.346927	0	1	121412	2656	68	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPT1C	126129	broad.mit.edu	37	19	50216321	50216321	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50216321G>A	ENST00000392518.4	+	19	2598	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	CPT1C_ENST00000405931.2_Splice_Site_p.T731T|CPT1C_ENST00000354199.5_Splice_Site_p.T653T|CPT1C_ENST00000323446.5_Splice_Site_p.T742T|CPT1C_ENST00000598293.1_Splice_Site_p.T742T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C			27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)			GCACAAAAACGGTGAGACAAA	0.527000																								0							SO:0001630	splice_region_variant			ENST00000392518.4	1	0	hg19	CCDS12779.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	1	0	0	169	678	0	152	0	9.974841e-01	0	38	0	152	2		0	0	0	0	0	2	1	1	168	675	0	151	2								-2.677818	1	1	121412	1	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSKS	60385	broad.mit.edu	37	19	50243181	50243181	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50243181A>G	ENST00000246801.3	-	11	1713	c.1631T>C	c.(1630-1632)aTg>aCg	p.M544T	TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate			38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)			CAGAGTGGCCATCTTCTCCCT	0.592000																								0							SO:0001583	missense			ENST00000246801.3	1	1	hg19	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	A	2.835	-0.241732	0.05906	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.27890	1.64;1.64	5.44	2.23	0.28157	.	0.857574	0.09841	N	0.748920	T	0.14270	0.0345	N	0.08118	0	0.23204	N	0.998125	B	0.11235	0.004	B	0.11329	0.006	T	0.32079	-0.9920	10	0.28530	T	0.3	-9.4709	4.2281	0.10590	0.6446:0.1749:0.1805:0.0	.	544	Q9UJT2	TSKS_HUMAN	T	544;344	ENSP00000246801:M544T;ENSP00000351691:M344T	ENSP00000246801:M544T	M	-	2	0	TSKS	54934993	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	0.878000	0.28126	0.070000	0.16634	0.496000	0.49642	ATG		TCGA-IB-7651-01A-11D-2154-08	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	1	0	1	70	413	0	109	0	0	0	1	0	109	2		0	0	0	0	0	2	1	1	69	403	0	107	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSKS	60385	broad.mit.edu	37	19	50249836	50249836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50249836G>A	ENST00000246801.3	-	6	965	c.883C>T	c.(883-885)Cca>Tca	p.P295S	TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate			38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)			AGGCCGTGTGGCCGCGAGGGT	0.721000																								0							SO:0001583	missense			ENST00000246801.3	1	1	hg19	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	9.932	1.215193	0.22373	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.33865	1.39;1.39	4.87	1.49	0.22878	.	1.157390	0.06486	N	0.733790	T	0.20780	0.0500	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.25916	-1.0118	10	0.05833	T	0.94	-6.5428	4.5318	0.12008	0.1991:0.1842:0.6167:0.0	.	295	Q9UJT2	TSKS_HUMAN	S	295;95	ENSP00000246801:P295S;ENSP00000351691:P95S	ENSP00000246801:P295S	P	-	1	0	TSKS	54941648	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.592000	0.23984	0.228000	0.21019	-0.136000	0.14681	CCA		TCGA-IB-7651-01A-11D-2154-08	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	1	0	0	66	285	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	64	275	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FUZ	80199	broad.mit.edu	37	19	50314697	50314697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50314697G>T	ENST00000313777.4	-	5	578	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	FUZ_ENST00000534008.1_5'UTR|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000533418.1_Missense_Mutation_p.L89M|FUZ_ENST00000445575.2_Missense_Mutation_p.L139M|FUZ_ENST00000526575.1_3'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein			4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)			GAGTCCCCCAGGAAGCTGTCG	0.582000																								0							SO:0001583	missense			ENST00000313777.4	0	1	hg19	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416090	0.62511	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.21	4.21	0.49690	.	0.296424	0.27345	N	0.019797	T	0.61110	0.2321	L	0.31926	0.97	0.44155	D	0.996958	D;D;D	0.89917	0.999;1.0;0.984	D;D;D	0.91635	0.998;0.999;0.926	T	0.63301	-0.6668	10	0.54805	T	0.06	-11.0072	13.5847	0.61924	0.0:0.0:1.0:0.0	.	139;103;139	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	M	103;89;139;139;39;139;89;139	ENSP00000435177:L103M;ENSP00000431731:L89M;ENSP00000313309:L139M;ENSP00000408018:L139M	ENSP00000313309:L139M	L	-	1	2	FUZ	55006509	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.832000	0.62759	2.171000	0.68590	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	0	0	0	9	233	0	37	1	9.005682e-01	7	101	0	37	2		0	0	0	0	0	2	1	9.941435e-01	9	230	0	36	2								-10.830110	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.220000	1.000000	0.440000	0.519135	0.470000	0	3.300000e-01	6.900000e-01
MED25	81857	broad.mit.edu	37	19	50321657	50321657	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50321657T>A	ENST00000312865.6	+	1	112	c.59T>A	c.(58-60)tTt>tAt	p.F20Y	MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25			17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)			GACGTGGTGTTTGTGATTGAG	0.682000													GBM(51;894 1657 37868)											0							SO:0001583	missense			ENST00000312865.6	1	1	hg19	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	T	31	5.063493	0.93898	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000542221;ENST00000544580	T;T	0.81163	1.83;-1.46	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	M	0.67397	2.05	0.23813	N	0.996771	D;D	0.58268	0.982;0.982	P;P	0.57846	0.828;0.828	T	0.78861	-0.2037	10	0.72032	D	0.01	.	12.039	0.53442	0.0:0.0:0.0:1.0	.	20;20	B9TX30;Q71SY5	.;MED25_HUMAN	Y	20	ENSP00000326767:F20Y;ENSP00000437496:F20Y	ENSP00000326767:F20Y	F	+	2	0	MED25	55013469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.474000	0.60203	2.091000	0.63221	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	1	0	1	34	182	0	36	1	9.983383e-01	15	41	0	36	2		0	0	0	0	0	2	1	1	34	177	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
PTOV1	53635	broad.mit.edu	37	19	50357694	50357694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50357694C>A	ENST00000601675.1	+	2	307	c.203C>A	c.(202-204)cCc>cAc	p.P68H	PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000391842.1_Missense_Mutation_p.P68H|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H|MIR4749_ENST00000578197.1_RNA|PTOV1-AS1_ENST00000596521.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1			16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)			GCACTGGGTCCCATCGGTCCC	0.667000																								0							SO:0001583	missense			ENST00000601675.1	1	1	hg19	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403721	0.62288	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.92	3.92	0.45320	.	0.184196	0.34002	U	0.004353	T	0.50205	0.1602	N	0.19112	0.55	0.33612	D	0.603735	D;D;D	0.76494	0.999;0.994;0.994	P;P;D	0.69479	0.907;0.897;0.964	T	0.62909	-0.6754	9	0.87932	D	0	-35.9482	11.7343	0.51757	0.0:1.0:0.0:0.0	.	36;68;36	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	H	36;68	.	ENSP00000221557:P36H	P	+	2	0	PTOV1	55049506	0.820000	0.29190	1.000000	0.80357	0.914000	0.54420	2.292000	0.43549	2.476000	0.83614	0.563000	0.77884	CCC		TCGA-IB-7651-01A-11D-2154-08	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	0	0	0	34	1035	0	174	1	9.597733e-01	10	150	0	174	2		0	0	0	0	0	2	1	1	33	1016	0	170	2								-2.836887	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.380000	0.260000	1.000000	0.380000	0.435720	0.380000	0	3.200000e-01	4.800000e-01
PTOV1	53635	broad.mit.edu	37	19	50358292	50358292	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50358292C>T	ENST00000601675.1	+	5	620	c.516C>T	c.(514-516)tgC>tgT	p.C172C	PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000391842.1_Silent_p.C172C|PTOV1_ENST00000221557.9_Silent_p.C140C|MIR4749_ENST00000578197.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000599732.1_Silent_p.C172C|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.C140C|PTOV1_ENST00000600603.1_Silent_p.C140C			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1			16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)			ACAGAGACTGCGACTCGCTCA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000601675.1	0	1	hg19	CCDS12782.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	1	0	1	8	41	0	13	1	1	74	330	0	13	2		0	0	0	0	0	2	1	9.888721e-01	8	38	0	13	2								-15.673820	1	1	121186	3	27	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.880000	1.000000	1.000000	0.993119	0.990000	1	9.900000e-01	1
TBC1D17	79735	broad.mit.edu	37	19	50386980	50386980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50386980G>A	ENST00000221543.5	+	10	1403	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	TBC1D17_ENST00000535102.2_Silent_p.L335L	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17			15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)			ACTCACTTCTGCATGGATACC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000221543.5	0	1	hg19	CCDS12785.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	0	0	0	8	260	0	51	1	9.569293e-01	15	167	0	51	2		0	0	0	0	0	2	1	9.891779e-01	8	258	0	49	2								-8.896262	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.380000	0.170000	1.000000	0.350000	0.438103	0.380000	0	2.600000e-01	5.700000e-01
TBC1D17	79735	broad.mit.edu	37	19	50387800	50387800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50387800G>A	ENST00000221543.5	+	12	1627	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D	TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17			15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)			TGTTTCTGTGGCTTCATGGAG	0.592000																								0							SO:0001583	missense			ENST00000221543.5	1	1	hg19	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061458	0.93846	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11169	2.8;2.8	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79108	0.979;0.992	T	0.30149	-0.9988	10	0.59425	D	0.04	-41.3911	16.2481	0.82460	0.0:0.0:1.0:0.0	.	410;443	F5H1W7;Q9HA65	.;TBC17_HUMAN	D	443;410	ENSP00000221543:G443D;ENSP00000446323:G410D	ENSP00000221543:G443D	G	+	2	0	TBC1D17	55079612	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.017000	0.57167	2.424000	0.82194	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	1	0	0	25	588	0	99	1	9.916779e-01	10	167	0	99	2		0	0	0	0	0	2	1	9.999998e-01	25	576	0	98	2								-4.354557	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.490000	0.320000	1.000000	0.480000	0.538426	0.490000	0	4.000000e-01	6.300000e-01
IL4I1	259307	broad.mit.edu	37	19	50393095	50393095	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50393095C>T	ENST00000391826.2	-	8	1678	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000341114.3_Silent_p.S534S|IL4I1_ENST00000595948.1_Silent_p.S534S	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1			16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		Flavin adenine dinucleotide(DB03147)	TGGCCGTGTCCGATGCAGGCC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000391826.2	1	1	hg19	CCDS12787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1	1	0	1	50	226	0	46	0	9.999997e-01	0	105	0	46	2		0	0	0	0	0	2	1	1	50	226	0	46	2								-3.433987	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP62	23636	broad.mit.edu	37	19	50412726	50412726	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50412726G>T	ENST00000596217.1	-	2	2226	c.339C>A	c.(337-339)ggC>ggA	p.G113G	NUP62_ENST00000597723.1_Silent_p.G113G|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Silent_p.G113G|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Silent_p.G113G|NUP62_ENST00000597029.1_Silent_p.G113G|NUP62_ENST00000422090.2_Silent_p.G113G			P37198	NUP62_HUMAN	nucleoporin 62kDa			19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)			CCAGCCCAAAGCCGCTGGGGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000596217.1	1	1	hg19	CCDS12788.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	1	0	1	108	500	0	98	1	1	42	102	0	98	2		0	0	0	0	0	2	1	1	105	488	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM4B	23030	broad.mit.edu	37	19	5047658	5047658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5047658C>T	ENST00000159111.4	+	6	822	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B			32					CAACTACCTGCACTTTGGGGA	0.632000																								0							SO:0001583	missense			ENST00000159111.4	1	1	hg19	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960249	0.92791	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71817	-0.6;-0.6;-0.6	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92139	0.5719	10	0.87932	D	0	-45.6557	16.9672	0.86290	0.0:1.0:0.0:0.0	.	202;202;202	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	Y	202	ENSP00000159111:H202Y;ENSP00000371178:H202Y;ENSP00000440495:H202Y	ENSP00000159111:H202Y	H	+	1	0	KDM4B	4998658	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.564000	0.82326	2.223000	0.72356	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	1	0	1	95	472	0	127	1	9.979457e-01	5	43	0	127	2		0	0	0	0	0	2	1	1	94	469	0	126	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF473	25888	broad.mit.edu	37	19	50548036	50548036	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ZNF473_ENST00000391821.2_Silent_p.F112F|ZNF473_ENST00000270617.3_Silent_p.F112F|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.F100F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473			37		all_neural(266;0.0459)|Ovarian(192;0.0728)			ACTCCAATTTCGGAGAAGCCT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000595661.1	1	1	hg19	CCDS33077.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	1	0	0	71	257	0	79	1	9.700737e-01	5	18	0	79	2		0	0	0	0	0	2	1	1	70	253	0	79	2								-3.987382	1	1	121412	6	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF473	25888	broad.mit.edu	37	19	50548627	50548627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548627G>A	ENST00000595661.1	+	6	1422	c.927G>A	c.(925-927)gaG>gaA	p.E309E	ZNF473_ENST00000391821.2_Silent_p.E309E|ZNF473_ENST00000270617.3_Silent_p.E309E|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.E297E			Q8WTR7	ZN473_HUMAN	zinc finger protein 473			37		all_neural(266;0.0459)|Ovarian(192;0.0728)			AGCCTGGTGAGCATCAGAAAA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000595661.1	1	1	hg19	CCDS33077.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	1	0	1	108	470	0	150	1	9.219010e-01	3	18	0	150	2		0	0	0	0	0	2	1	1	105	454	0	150	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF473	25888	broad.mit.edu	37	19	50549780	50549780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549780C>T	ENST00000595661.1	+	6	2575	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	p.R694*(1)		37		all_neural(266;0.0459)|Ovarian(192;0.0728)			TCAGCATGAGCGAACTCATGC	0.453000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000595661.1	0	1	hg19	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	36	5.831686	0.97003	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.21	0.966	0.19667	.	0.679345	0.12907	N	0.429279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.416	4.1994	0.10458	0.6041:0.1829:0.213:0.0	.	.	.	.	X	694;694;682	.	ENSP00000270617:R694X	R	+	1	2	ZNF473	55241592	0.000000	0.05858	0.140000	0.22221	0.027000	0.11550	-0.447000	0.06828	0.111000	0.17947	-0.347000	0.07816	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	1	0	1	62	331	0	86	1	9.724173e-01	7	26	0	86	2		0	0	0	0	0	2	1	1	61	326	0	86	2								-3.150560	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF473	25888	broad.mit.edu	37	19	50549918	50549918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549918G>A	ENST00000595661.1	+	6	2713	c.2218G>A	c.(2218-2220)Ggc>Agc	p.G740S	ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S|ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473			37		all_neural(266;0.0459)|Ovarian(192;0.0728)			GAAGGCCTTCGGCCTGAGTGC	0.512000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000595661.1	1	1	hg19	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051748	0.01981	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07114	3.22;3.22;3.22	4.17	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.670270	0.13095	N	0.414241	T	0.01800	0.0057	N	0.01122	-1.005	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.44174	-0.9345	10	0.02654	T	1	-0.0068	5.1114	0.14811	0.3631:0.0:0.475:0.1619	.	740	Q8WTR7	ZN473_HUMAN	S	740;740;728	ENSP00000270617:G740S;ENSP00000375697:G740S;ENSP00000388961:G728S	ENSP00000270617:G740S	G	+	1	0	ZNF473	55241730	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.786000	0.04623	-0.277000	0.09193	-0.312000	0.09012	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	1	0	1	71	317	0	90	1	9.966589e-01	10	31	0	90	2		0	0	0	0	0	2	1	1	71	309	0	87	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH14	79784	broad.mit.edu	37	19	50726596	50726596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50726596C>A	ENST00000596571.1	+	4	683	c.683C>A	c.(682-684)cCg>cAg	p.P228Q	MYH14_ENST00000440075.2_Missense_Mutation_p.P228Q|MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q|MYH14_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000601313.1_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle			46		all_neural(266;0.0571)|Ovarian(192;0.0728)			AGGAAGGAGCCGGGTGTCCCC	0.627000																								0							SO:0001583	missense			ENST00000596571.1	1	1	hg19	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.122598	0.01785	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71341	-0.56;-0.55;-0.56;-0.56	4.49	3.38	0.38709	Myosin head, motor domain (2);	.	.	.	.	T	0.56171	0.1967	N	0.20530	0.585	0.38806	D	0.9553	P;B;B	0.48230	0.907;0.082;0.004	P;B;B	0.46850	0.529;0.199;0.019	T	0.49899	-0.8890	9	0.15952	T	0.53	.	9.4335	0.38624	0.31:0.69:0.0:0.0	.	228;228;228	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	228	ENSP00000406273:P228Q;ENSP00000366169:P228Q;ENSP00000407879:P228Q;ENSP00000262269:P228Q	ENSP00000262269:P228Q	P	+	2	0	MYH14	55418408	0.978000	0.34361	0.950000	0.38849	0.176000	0.22953	3.532000	0.53553	2.508000	0.84585	0.579000	0.79373	CCG		TCGA-IB-7651-01A-11D-2154-08	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	1	12	35	0	12	1	1	89	136	0	12	2		0	0	0	0	0	2	1	9.995328e-01	12	35	0	12	2								-19.999990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999830	0.990000	1	9.900000e-01	1
KDM4B	23030	broad.mit.edu	37	19	5077407	5077407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5077407G>A	ENST00000159111.4	+	8	924	c.706G>A	c.(706-708)Gac>Aac	p.D236N	KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B			32					GCAGGGCTGCGACGCCTTCCT	0.657000																								0							SO:0001583	missense			ENST00000159111.4	1	1	hg19	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760404	0.69763	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71461	-0.57;-0.57;-0.57	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.15473	0.01;0.013;0.013	B;B;B	0.18561	0.013;0.003;0.022	T	0.50792	-0.8786	10	0.39692	T	0.17	-28.7526	17.2595	0.87066	0.0:0.0:1.0:0.0	.	236;236;236	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	N	236	ENSP00000159111:D236N;ENSP00000371178:D236N;ENSP00000440495:D236N	ENSP00000159111:D236N	D	+	1	0	KDM4B	5028407	1.000000	0.71417	0.916000	0.36221	0.936000	0.57629	9.690000	0.98676	2.066000	0.61787	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	1	0	1	224	1156	0	272	1	9.941731e-01	6	36	0	272	2		0	0	0	0	0	2	1	1	220	1140	0	269	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH14	79784	broad.mit.edu	37	19	50792804	50792804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50792804C>T	ENST00000596571.1	+	32	4741	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C	MYH14_ENST00000440075.2_Missense_Mutation_p.R1622C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle			46		all_neural(266;0.0571)|Ovarian(192;0.0728)			TGCCAAGCTGCGTCTGGAGGT	0.617000																								0							SO:0001583	missense			ENST00000596571.1	0	1	hg19	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565019	0.86439	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.25	4.25	0.50352	Myosin tail (1);	.	.	.	.	D	0.92756	0.7697	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.93907	0.7193	9	0.87932	D	0	.	14.5171	0.67826	0.0:1.0:0.0:0.0	.	1622;1581;1589	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1622;1614;1589;1365;1622	ENSP00000406273:R1622C;ENSP00000366169:R1614C;ENSP00000407879:R1589C;ENSP00000262269:R1622C	ENSP00000262269:R1622C	R	+	1	0	MYH14	55484616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.523000	0.60545	2.371000	0.80710	0.491000	0.48974	CGT		TCGA-IB-7651-01A-11D-2154-08	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	1	16	100	0	20	1	1	276	298	0	20	2		0	0	0	0	0	2	1	9.999554e-01	16	100	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.980000	1.000000	1.000000	0.997421	0.990000	1	9.900000e-01	1
MYH14	79784	broad.mit.edu	37	19	50796920	50796920	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50796920C>T	ENST00000596571.1	+	36	5322	c.5322C>T	c.(5320-5322)gaC>gaT	p.D1774D	MYH14_ENST00000440075.2_Silent_p.D1815D|MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000601313.1_Silent_p.D1815D|MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000598205.1_Silent_p.D1782D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle			46		all_neural(266;0.0571)|Ovarian(192;0.0728)			TGCTCAATGACCGCTACCGCA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000596571.1	1	1	hg19	CCDS59411.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	0	49	163	0	55	1	1	189	287	0	55	2		0	0	0	0	0	2	1	1	48	162	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH14	79784	broad.mit.edu	37	19	50804952	50804952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50804952G>A	ENST00000596571.1	+	37	5381	c.5381G>A	c.(5380-5382)cGc>cAc	p.R1794H	MYH14_ENST00000440075.2_Missense_Mutation_p.R1835H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle			46		all_neural(266;0.0571)|Ovarian(192;0.0728)			TCAGCTGAGCGCAGTTTCTCA	0.612000																								0							SO:0001583	missense			ENST00000596571.1	1	1	hg19	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888252	0.91814	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	4.08	4.08	0.47627	Myosin tail (1);	.	.	.	.	D	0.89570	0.6753	M	0.82630	2.6	0.47905	D	0.999542	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91176	0.4972	9	0.87932	D	0	.	14.1423	0.65327	0.0:0.0:1.0:0.0	.	1835;1794;1802	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1835;1827;1802;1578;1835	ENSP00000406273:R1835H;ENSP00000366169:R1827H;ENSP00000407879:R1802H;ENSP00000262269:R1835H	ENSP00000262269:R1835H	R	+	2	0	MYH14	55496764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.594000	0.82698	2.274000	0.75844	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	1	0	1	45	243	0	47	1	1	184	223	0	47	2		0	0	0	0	0	2	1	1	45	240	0	47	2								-20.000000	1	1	121018	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NAPSA	9476	broad.mit.edu	37	19	50862018	50862018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50862018C>T	ENST00000253719.2	-	9	1263	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase			12		all_neural(266;0.057)			CAAGCAGAGGCGGACGCCATT	0.632000																								0							SO:0001583	missense			ENST00000253719.2	1	1	hg19	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610610	0.46527	.	.	ENSG00000131400	ENST00000253719	T	0.57907	0.37	3.24	2.11	0.27256	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	1.265940	0.04994	N	0.467899	T	0.52565	0.1742	L	0.35341	1.055	0.09310	N	1	P	0.52842	0.956	P	0.49597	0.616	T	0.47420	-0.9119	10	0.72032	D	0.01	.	9.4839	0.38917	0.0:0.5772:0.4228:0.0	.	352	O96009	NAPSA_HUMAN	H	352	ENSP00000253719:R352H	ENSP00000253719:R352H	R	-	2	0	NAPSA	55553830	0.000000	0.05858	0.556000	0.28293	0.409000	0.31022	-0.308000	0.08156	0.569000	0.29329	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	1	0	1	35	116	0	14	0	1.418763e-01	1	2	0	14	2		0	0	0	0	0	2	1	1	35	114	0	14	2								-20.000000	1	1	121344	1	26	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR1H2	7376	broad.mit.edu	37	19	50881511	50881511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881511G>A	ENST00000253727.5	+	5	522	c.287G>A	c.(286-288)gGc>gAc	p.G96D	NR1H2_ENST00000593926.1_Missense_Mutation_p.G96D|NR1H2_ENST00000598168.1_Missense_Mutation_p.G96D|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Missense_Mutation_p.G96D	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2			8		all_neural(266;0.057)			AAGGCCTCCGGCTTCCACTAC	0.657000																								0							SO:0001583	missense			ENST00000253727.5	1	0	hg19	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505437	0.85282	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.98701	-5.08	4.74	4.74	0.60224	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.64402	D	0.000008	D	0.99429	0.9798	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.98319	1.0527	10	0.87932	D	0	.	17.0258	0.86446	0.0:0.0:1.0:0.0	.	96;96	P55055;F1D8P7	NR1H2_HUMAN;.	D	96	ENSP00000253727:G96D	ENSP00000253727:G96D	G	+	2	0	NR1H2	55573323	1.000000	0.71417	0.993000	0.49108	0.629000	0.37895	9.203000	0.95033	2.633000	0.89246	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2	1	0	1	254	1013	0	250	1	1	142	297	0	250	2		0	0	0	0	0	2	1	1	251	995	0	245	2								-1.736342	0	1	121380	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR1H2	7376	broad.mit.edu	37	19	50881936	50881936	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881936C>T	ENST00000253727.5	+	6	865	c.630C>T	c.(628-630)ggC>ggT	p.G210G	NR1H2_ENST00000593926.1_Silent_p.G210G|NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Silent_p.G113G|NR1H2_ENST00000599105.1_Silent_p.G210G	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2			8		all_neural(266;0.057)			GCAGCCAGGGCTCCGGGGAAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000253727.5	1	1	hg19	CCDS42593.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2	1	0	1	40	239	0	55	1	1	196	520	0	55	2		0	0	0	0	0	2	1	1	40	235	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
POLD1	5424	broad.mit.edu	37	19	50905960	50905960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50905960G>A	ENST00000440232.2	+	8	985	c.932G>A	c.(931-933)cGc>cAc	p.R311H	POLD1_ENST00000599857.1_Missense_Mutation_p.R311H|POLD1_ENST00000595904.1_Missense_Mutation_p.R311H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit			39		all_neural(266;0.0571)			GCGCCCTTGCGCGTGCTCAGC	0.672000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000440232.2	0	1	hg19	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679948	0.68042	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.12672	2.66	4.69	2.32	0.28847	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.068072	0.64402	D	0.000019	T	0.34135	0.0887	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.28170	-1.0052	10	0.87932	D	0	-11.8143	13.4259	0.61026	0.0:0.3003:0.6997:0.0	.	311;311	E7EVW0;P28340	.;DPOD1_HUMAN	H	311;312	ENSP00000406046:R311H	ENSP00000366129:R312H	R	+	2	0	POLD1	55597772	1.000000	0.71417	0.976000	0.42696	0.203000	0.24098	5.595000	0.67563	1.084000	0.41184	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1	1	0	1	12	103	0	20	1	8.164165e-01	3	26	0	20	2		0	0	0	0	1	2	1	9.991613e-01	12	100	0	20	2								-18.795650	1	1	121338	2	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.700000	1.000000	1.000000	0.970167	0.990000	1	9.500000e-01	1
MYBPC2	4606	broad.mit.edu	37	19	50944251	50944251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50944251C>T	ENST00000357701.5	+	8	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type			1		all_neural(266;0.057)			ACGAGAAAATCGCCTTCCAGT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000357701.5	1	1	hg19	CCDS46152.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	1	0	1	23	83	0	24	0	5.096840e-02	1	1	0	24	2		0	0	0	0	0	2	1	9.999997e-01	23	82	0	24	2								-16.866690	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
MYBPC2	4606	broad.mit.edu	37	19	50958825	50958825	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50958825A>G	ENST00000357701.5	+	20	2313	c.2262A>G	c.(2260-2262)acA>acG	p.T754T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type			1		all_neural(266;0.057)			CCACCACCACACTCAAGTGGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000357701.5	1	1	hg19	CCDS46152.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	0	0	1	96	422	1	127	0	3.495341e-02	0	2	1	127	2		0	0	0	0	0	2	1	1	93	411	1	126	15								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JOSD2	126119	broad.mit.edu	37	19	51010878	51010878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51010878G>A	ENST00000598418.1	-	3	478	c.225C>T	c.(223-225)gcC>gcT	p.A75A	JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Silent_p.A75A|JOSD2_ENST00000391815.3_Silent_p.A75A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2			5		all_neural(266;0.131)			CCTGCAGAGCGGCCATGATCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000598418.1	1	1	hg19	CCDS12797.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	1	0	1	136	712	0	120	1	9.999906e-01	11	75	0	120	2		0	0	0	0	0	2	1	1	135	693	0	117	2								-3.319541	1	1	121294	4	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC4B	94030	broad.mit.edu	37	19	51021414	51021414	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021414T>C	ENST00000599957.1	-	3	1753	c.1556A>G	c.(1555-1557)gAc>gGc	p.D519G	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B			30		all_neural(266;0.131)			CCAGACACCGTCTGTCGTGGG	0.741000																								0							SO:0001583	missense			ENST00000599957.1	1	1	hg19	CCDS42595.1	6	0.0027472527472527475	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	3.906	-0.020995	0.07634	.	.	ENSG00000131409	ENST00000389201	T	0.59083	0.29	3.05	3.05	0.35203	.	0.535452	0.15013	N	0.285479	T	0.25827	0.0629	N	0.08118	0	0.23496	N	0.997551	B	0.06786	0.001	B	0.04013	0.001	T	0.11275	-1.0594	10	0.22706	T	0.39	.	9.4792	0.38891	0.0:0.0:0.0:1.0	.	519	Q9NT99	LRC4B_HUMAN	G	519	ENSP00000373853:D519G	ENSP00000373853:D519G	D	-	2	0	LRRC4B	55713226	0.001000	0.12720	0.892000	0.35008	0.313000	0.28021	0.541000	0.23207	1.393000	0.46605	0.379000	0.24179	GAC		TCGA-IB-7651-01A-11D-2154-08	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	0	25	109	0	14	0	0	1	0	0	14	2		0	0	0	0	0	2	1	9.999999e-01	24	103	0	13	2								-20.000000	1	1	118564	27	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
LRRC4B	94030	broad.mit.edu	37	19	51021716	51021716	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021716G>A	ENST00000599957.1	-	3	1451	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	LRRC4B_ENST00000389201.3_Silent_p.D418D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B			30		all_neural(266;0.131)			TAAGCGTGCCGTCATGCAGGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000599957.1	1	1	hg19	CCDS42595.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	1	51	264	0	47	0	7.276287e-02	0	3	0	47	2		0	0	0	0	0	2	1	1	51	263	0	47	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC4B	94030	broad.mit.edu	37	19	51021887	51021887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021887G>T	ENST00000599957.1	-	3	1280	c.1083C>A	c.(1081-1083)tgC>tgA	p.C361*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B			30		all_neural(266;0.131)			CGGGCGCATAGCAGGTGAAAT	0.667000																								0							SO:0001587	stop_gained			ENST00000599957.1	0	1	hg19	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	36	5.798000	0.96952	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	.	.	.	X	361	.	ENSP00000373853:C361X	C	-	3	2	LRRC4B	55713699	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.597000	0.61062	2.192000	0.70111	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	1	53	243	0	41	0	1.537537e-01	1	3	0	41	2		0	0	0	0	0	2	1	1	52	239	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC4B	94030	broad.mit.edu	37	19	51022052	51022052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51022052C>T	ENST00000599957.1	-	3	1115	c.918G>A	c.(916-918)gtG>gtA	p.V306V	LRRC4B_ENST00000389201.3_Silent_p.V306V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B			30		all_neural(266;0.131)			GGTTGAGGTGCACGCGCTCGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000599957.1	1	1	hg19	CCDS42595.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	1	103	386	0	88	1	2.873938e-01	4	1	0	88	2		0	0	0	0	0	2	1	1	101	379	0	87	2								-3.798659	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT3	84258	broad.mit.edu	37	19	51128446	51128446	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51128446G>A	ENST00000338916.4	-	7	2313	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	SYT3_ENST00000593901.1_Silent_p.P560P|SYT3_ENST00000600079.1_Silent_p.P560P|SYT3_ENST00000544769.1_Silent_p.P560P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III			35		all_neural(266;0.131)			AGTGCTCCACGGGCTTGCGGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000338916.4	1	1	hg19	CCDS12798.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	1	0	1	13	71	0	19	0	0	1	0	0	19	2		0	0	0	0	0	2	1	9.996809e-01	13	71	0	19	2								-19.997600	1	1	121186	6	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997873	0.990000	1	9.900000e-01	1
SYT3	84258	broad.mit.edu	37	19	51133064	51133064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51133064G>A	ENST00000338916.4	-	3	1672	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	SYT3_ENST00000593901.1_Missense_Mutation_p.R347C|SYT3_ENST00000600079.1_Missense_Mutation_p.R347C|SYT3_ENST00000544769.1_Missense_Mutation_p.R347C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III			35		all_neural(266;0.131)			TTTTTCTTGCGGTCAGGCAGC	0.622000																								0							SO:0001583	missense			ENST00000338916.4	1	1	hg19	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725553	0.68959	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.09073	3.02;3.02	4.67	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000011	T	0.24967	0.0606	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.00891	-1.1525	10	0.87932	D	0	.	16.7093	0.85381	0.0:0.0:1.0:0.0	.	347	Q9BQG1	SYT3_HUMAN	C	347	ENSP00000340914:R347C;ENSP00000438883:R347C	ENSP00000340914:R347C	R	-	1	0	SYT3	55824876	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	2.641000	0.46587	2.301000	0.77427	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	1	0	0	100	389	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	1	96	384	0	92	2								-2.973798	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHANK1	50944	broad.mit.edu	37	19	51165631	51165631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51165631C>T	ENST00000293441.1	-	23	6095	c.6077G>A	c.(6076-6078)gGa>gAa	p.G2026E	SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1			64		all_neural(266;0.057)			GTAGAGGGGTCCGGAAGGCAG	0.716000																								0							SO:0001583	missense			ENST00000293441.1	1	1	hg19	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	8.484	0.860483	0.17178	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.36520	1.37;1.82;1.36;1.25	3.46	3.46	0.39613	.	0.593958	0.14308	U	0.327895	T	0.33469	0.0864	L	0.40543	1.245	0.27133	N	0.961838	P;P	0.45827	0.652;0.867	B;P	0.47645	0.173;0.553	T	0.12016	-1.0564	10	0.49607	T	0.09	.	6.4576	0.21938	0.204:0.5973:0.1986:0.0	.	2026;1413	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	E	2026;1413;2017;2034	ENSP00000293441:G2026E;ENSP00000375689:G1413E;ENSP00000351984:G2017E;ENSP00000375690:G2034E	ENSP00000293441:G2026E	G	-	2	0	SHANK1	55857443	0.000000	0.05858	0.993000	0.49108	0.979000	0.70002	0.447000	0.21710	1.940000	0.56252	0.455000	0.32223	GGA		TCGA-IB-7651-01A-11D-2154-08	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	1	0	1	19	69	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999937e-01	19	65	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
SHANK1	50944	broad.mit.edu	37	19	51169770	51169770	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51169770A>G	ENST00000293441.1	-	22	5465	c.5447T>C	c.(5446-5448)gTg>gCg	p.V1816A	SHANK1_ENST00000391813.1_Missense_Mutation_p.V1203A|SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1			64		all_neural(266;0.057)			CTCTACAGCCACCGGACCCCC	0.726000																								0							SO:0001583	missense			ENST00000293441.1	0	1	hg19	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	A	2.736	-0.263213	0.05754	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.37235	1.33;1.73;1.31;1.21	2.59	0.147	0.14838	.	2.425490	0.03225	U	0.178136	T	0.25531	0.0621	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.09422	-1.0675	10	0.10377	T	0.69	.	3.9956	0.09556	0.4176:0.4464:0.136:0.0	.	1816;1203	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	A	1816;1203;1807;1824	ENSP00000293441:V1816A;ENSP00000375689:V1203A;ENSP00000351984:V1807A;ENSP00000375690:V1824A	ENSP00000293441:V1816A	V	-	2	0	SHANK1	55861582	0.163000	0.22920	0.055000	0.19348	0.589000	0.36550	0.444000	0.21661	-0.171000	0.10797	0.164000	0.16699	GTG		TCGA-IB-7651-01A-11D-2154-08	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	1	0	0	11	54	0	16	0	0	0	1	0	16	2		0	0	0	0	0	2	0	4.838076e-01	11	54	1	16	12								-19.955410	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997805	0.990000	1	9.900000e-01	1
SHANK1	50944	broad.mit.edu	37	19	51220126	51220126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51220126G>A	ENST00000293441.1	-	1	69	c.51C>T	c.(49-51)agC>agT	p.S17S	SHANK1_ENST00000391814.1_Silent_p.S17S|SHANK1_ENST00000359082.3_Silent_p.S17S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1			64		all_neural(266;0.057)			CGGGACACTCGCTGGCACTGT	0.736000																								0							SO:0001819	synonymous_variant			ENST00000293441.1	1	1	hg19	CCDS12799.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	1	0	0	26	61	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	1	26	60	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC11A	6320	broad.mit.edu	37	19	51226907	51226907	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51226907A>T	ENST00000250340.4	+	1	322	c.125A>T	c.(124-126)gAg>gTg	p.E42V	CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A			7		all_neural(266;0.057)			gaggagcgggagagggaggCC	0.637000																								0							SO:0001583	missense			ENST00000250340.4	1	1	hg19	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838773	0.51057	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.46819	0.86	3.09	3.09	0.35607	.	0.279407	0.22182	N	0.063482	T	0.34308	0.0893	L	0.27053	0.805	0.32344	N	0.55937	P	0.45348	0.856	B	0.42995	0.404	T	0.50013	-0.8877	10	0.87932	D	0	-10.7094	7.8693	0.29556	1.0:0.0:0.0:0.0	.	42	Q9Y240	CLC11_HUMAN	V	42	ENSP00000250340:E42V	ENSP00000250340:E42V	E	+	2	0	CLEC11A	55918719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.855000	0.48333	1.430000	0.47334	0.379000	0.24179	GAG		TCGA-IB-7651-01A-11D-2154-08	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	1	0	1	46	146	0	28	0	1	0	110	0	28	2		0	0	0	0	0	2	1	1	43	136	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC11A	6320	broad.mit.edu	37	19	51228461	51228461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51228461C>T	ENST00000250340.4	+	4	906	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A			7		all_neural(266;0.057)			CTACAACTGGCCCGTGTGGCT	0.726000																								0							SO:0001583	missense			ENST00000250340.4	0	1	hg19	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892560	0.91889	.	.	ENSG00000105472	ENST00000250340	T	0.15952	2.38	3.91	3.91	0.45181	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.212847	0.39834	N	0.001246	T	0.27967	0.0689	L	0.28400	0.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	T	0.02519	-1.1147	10	0.27785	T	0.31	-23.8668	15.1898	0.73035	0.0:1.0:0.0:0.0	.	237	Q9Y240	CLC11_HUMAN	S	237	ENSP00000250340:P237S	ENSP00000250340:P237S	P	+	1	0	CLEC11A	55920273	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	6.160000	0.71862	2.177000	0.69029	0.455000	0.32223	CCC		TCGA-IB-7651-01A-11D-2154-08	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	1	0	0	9	51	0	12	0	6.195060e-01	0	13	0	12	2		0	0	0	0	0	2	1	9.946425e-01	9	49	0	11	2								-17.175100	1	1	119432	1	19	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.870000	1.000000	1.000000	0.992613	0.990000	1	9.900000e-01	1
GPR32	2854	broad.mit.edu	37	19	51274701	51274701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51274701C>T	ENST00000270590.4	+	1	981	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32			29		all_neural(266;0.131)			CCATCTGTGGCGACGGGTGAT	0.582000													Esophageal Squamous(113;152 1581 5732 15840 44398)											0							SO:0001587	stop_gained			ENST00000270590.4	0	1	hg19	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656333	0.47467	.	.	ENSG00000142511	ENST00000270590	.	.	.	1.99	-1.38	0.09027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.3727	0.16148	0.2073:0.3822:0.4105:0.0	.	.	.	.	X	282	.	ENSP00000270590:R282X	R	+	1	2	GPR32	55966513	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-0.521000	0.06245	-0.399000	0.07668	0.313000	0.20887	CGA		TCGA-IB-7651-01A-11D-2154-08	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1	0	0	0	17	512	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	9.999612e-01	16	505	0	80	2								-3.323454	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.390000	0.230000	1.000000	0.380000	0.447313	0.390000	0	3.000000e-01	5.300000e-01
KLK15	55554	broad.mit.edu	37	19	51330304	51330304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330304C>T	ENST00000598239.1	-	3	341	c.311G>A	c.(310-312)cGc>cAc	p.R104H	KLK15_ENST00000596931.1_Missense_Mutation_p.R103H|KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000326856.4_Missense_Mutation_p.R103H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15			24		all_neural(266;0.057)			GATGTCGTTGCGGTGGCTGCG	0.697000													Pancreas(140;10 2513 7143 9246)											0							SO:0001583	missense			ENST00000598239.1	1	1	hg19	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584354	0.46110	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.88586	-2.4;-2.4	4.39	-8.27	0.01017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.832426	0.10336	N	0.686950	T	0.72095	0.3418	N	0.11673	0.155	0.09310	N	0.999995	B;B;B;B	0.28419	0.097;0.063;0.211;0.208	B;B;B;B	0.30716	0.038;0.032;0.119;0.11	T	0.62581	-0.6824	10	0.59425	D	0.04	.	5.7109	0.17935	0.5217:0.2582:0.0:0.22	.	104;103;104;104	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	104	ENSP00000415136:R104H;ENSP00000301421:R104H	ENSP00000301421:R104H	R	-	2	0	KLK15	56022116	0.014000	0.17966	0.002000	0.10522	0.227000	0.25037	0.169000	0.16641	-1.179000	0.02737	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	1	0	0	25	518	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	9.999998e-01	25	511	0	100	2								-4.792672	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.560000	0.360000	1.000000	0.540000	0.596674	0.560000	0	4.500000e-01	7.100000e-01
KLK15	55554	broad.mit.edu	37	19	51330990	51330990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330990C>T	ENST00000598239.1	-	2	155	c.125G>A	c.(124-126)cGt>cAt	p.R42H	KLK15_ENST00000596931.1_Missense_Mutation_p.R41H|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000326856.4_Missense_Mutation_p.R41H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15			24		all_neural(266;0.057)			AAAGCGTCCACGCTCGTAGAG	0.607000													Pancreas(140;10 2513 7143 9246)											0							SO:0001583	missense			ENST00000598239.1	1	1	hg19	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218055	0.39201	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.93019	-3.15;-3.15	4.66	1.38	0.22167	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.345819	0.20904	N	0.083599	D	0.86502	0.5948	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.28419	0.036;0.067;0.211;0.059	B;B;B;B	0.24269	0.002;0.052;0.032;0.051	T	0.76299	-0.3010	10	0.41790	T	0.15	.	8.055	0.30600	0.0:0.7289:0.0:0.2711	.	42;41;42;42	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	42	ENSP00000415136:R42H;ENSP00000301421:R42H	ENSP00000301421:R42H	R	-	2	0	KLK15	56022802	0.011000	0.17503	0.003000	0.11579	0.895000	0.52256	0.694000	0.25512	0.304000	0.22809	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	1	0	0	15	229	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	9.998867e-01	15	229	0	64	2								-11.890410	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.750000	0.430000	1.000000	1.000000	0.767021	0.750000	0	5.800000e-01	1
KLK3	354	broad.mit.edu	37	19	51361378	51361378	+	Silent	SNP	C	C	A	rs2739452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51361378C>A	ENST00000326003.2	+	3	341	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KLK3_ENST00000593997.1_Silent_p.L100L|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000360617.3_Silent_p.L100L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	p.L100L(2)		24		all_neural(266;0.057)			CACACCCGCTCTACGATATGA	0.582000													Colon(185;1767 2023 13025 30120 37630)											2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000326003.2	1	1	hg19	CCDS12807.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	1	0	1	45	205	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	45	201	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLK7	5650	broad.mit.edu	37	19	51483600	51483600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51483600G>A	ENST00000391807.1	-	4	466	c.365C>T	c.(364-366)gCc>gTc	p.A122V	KLK7_ENST00000597707.1_Missense_Mutation_p.A50V|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595638.1_5'Flank|KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000595820.1_Missense_Mutation_p.A122V	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7			19		all_neural(266;0.026)			TGACAGCCTGGCCTGGCTATT	0.592000																								0							SO:0001583	missense			ENST00000391807.1	1	1	hg19	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	g	11.20	1.568450	0.28003	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;D	0.91686	-2.89;-2.23	4.6	0.361	0.16107	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254023	0.20322	N	0.094608	T	0.71239	0.3316	N	0.02916	-0.46	0.22656	N	0.99889	B	0.23937	0.094	B	0.16722	0.016	T	0.64162	-0.6472	10	0.02654	T	1	.	3.1037	0.06334	0.3087:0.0:0.4984:0.1929	.	122	P49862	KLK7_HUMAN	V	122;122;9	ENSP00000375683:A122V;ENSP00000337540:A9V	ENSP00000304791:A122V	A	-	2	0	KLK7	56175412	0.001000	0.12720	0.006000	0.13384	0.076000	0.17211	0.085000	0.14912	-0.128000	0.11641	0.448000	0.29417	GCC		TCGA-IB-7651-01A-11D-2154-08	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	1	0	1	49	202	0	41	1	9.999952e-01	31	48	0	41	2		0	0	0	0	0	2	1	1	47	196	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLK7	5650	broad.mit.edu	37	19	51485163	51485163	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51485163A>G	ENST00000391807.1	-	3	182	c.81T>C	c.(79-81)ggT>ggC	p.G27G	KLK7_ENST00000597707.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595638.1_5'Flank|KLK7_ENST00000336317.4_Intron|KLK7_ENST00000595820.1_Silent_p.G27G	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7			19		all_neural(266;0.026)			TAATCTTGTCACCCTGGGCTG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000391807.1	1	1	hg19	CCDS12812.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	0	0	0	7	103	0	24	1	7.994131e-01	6	40	0	24	2		0	0	0	0	0	2	1	9.798258e-01	7	100	0	24	2								-10.975410	1	1	121360	2	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.800000	0.360000	1.000000	1.000000	0.785765	0.800000	0	5.500000e-01	1
KLK13	26085	broad.mit.edu	37	19	51563271	51563271	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51563271T>C	ENST00000595793.1	-	3	361	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.I107V|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13			16		all_neural(266;0.026)			GGGTGGGGGATAGAGTGGACA	0.582000																								0							SO:0001583	missense			ENST00000595793.1	1	1	hg19	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	T	0.354	-0.942973	0.02322	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.76	0.519	0.17035	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.285942	0.25006	N	0.033862	T	0.40094	0.1103	L	0.34521	1.04	0.37140	D	0.901665	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.008	T	0.21655	-1.0239	9	0.49607	T	0.09	.	5.6968	0.17861	0.0:0.3757:0.0:0.6243	.	107;107	B5BUM9;Q9UKR3	.;KLK13_HUMAN	V	107	.	ENSP00000156476:I107V	I	-	1	0	KLK13	56255083	0.000000	0.05858	0.741000	0.31004	0.001000	0.01503	-0.831000	0.04405	0.169000	0.19679	-0.280000	0.10049	ATC		TCGA-IB-7651-01A-11D-2154-08	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	1	0	1	65	384	0	94	1	3.860463e-01	4	5	0	94	2		0	0	0	0	0	2	1	1	65	374	0	94	2								-20.000000	1	1	121412	29	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLK14	43847	broad.mit.edu	37	19	51582124	51582124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51582124G>A	ENST00000156499.2	-	6	817	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KLK14_ENST00000391802.1_Missense_Mutation_p.T200M			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14			11		all_neural(266;0.0199)			CATGCCAGGCGTGATGGTTCT	0.587000													GBM(117;2161 2172 2448 22911)											0							SO:0001583	missense			ENST00000156499.2	1	1	hg19	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528327	0.44969	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.91068	-2.78;-2.78	4.49	4.49	0.54785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95771	0.8624	M	0.90252	3.1	0.37125	D	0.900994	D	0.89917	1.0	D	0.71184	0.972	D	0.98452	1.0592	9	0.87932	D	0	.	14.7352	0.69412	0.0:0.0:1.0:0.0	.	200	Q9P0G3	KLK14_HUMAN	M	200	ENSP00000156499:T200M;ENSP00000375678:T200M	ENSP00000156499:T200M	T	-	2	0	KLK14	56273936	1.000000	0.71417	0.228000	0.23943	0.021000	0.10359	4.476000	0.60216	2.079000	0.62486	0.394000	0.25966	ACG		TCGA-IB-7651-01A-11D-2154-08	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	0	0	0	45	1275	0	296	0	3.307079e-01	0	34	0	296	2		0	0	0	0	0	2	1	1	43	1250	0	294	2								-3.784703	1	1	120952	2	43	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.410000	0.290000	1.000000	0.400000	0.459008	0.410000	0	3.400000e-01	5.000000e-01
SIGLEC7	27036	broad.mit.edu	37	19	51647836	51647836	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51647836A>G	ENST00000317643.6	+	2	676	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7			29		all_neural(266;0.0199)			CTCAGTGCTCACCCTCATCCC	0.657000																								0							SO:0001583	missense			ENST00000317643.6	1	1	hg19	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.311986	0.23821	.	.	ENSG00000168995	ENST00000317643	T	0.03635	3.86	2.9	1.73	0.24493	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208382	0.24542	N	0.037621	T	0.09468	0.0233	M	0.88979	2.995	0.21220	N	0.999752	P	0.43352	0.804	P	0.47134	0.539	T	0.05386	-1.0888	10	0.42905	T	0.14	.	4.7918	0.13252	0.7228:0.0:0.0:0.2772	.	203	Q9Y286	SIGL7_HUMAN	A	203	ENSP00000323328:T203A	ENSP00000323328:T203A	T	+	1	0	SIGLEC7	56339648	0.006000	0.16342	0.444000	0.26895	0.012000	0.07955	0.237000	0.17985	1.360000	0.45960	0.432000	0.28606	ACC		TCGA-IB-7651-01A-11D-2154-08	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	0	0	0	40	507	0	112	0	4.163075e-01	0	19	0	112	2		0	0	0	0	0	2	1	1	36	495	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.880000	0.630000	1.000000	1.000000	0.875401	0.880000	1	7.400000e-01	1
CD33	945	broad.mit.edu	37	19	51728523	51728523	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51728523G>A	ENST00000262262.4	+	2	108	c.87G>A	c.(85-87)gtG>gtA	p.V29V	CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Silent_p.V29V	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule			24		all_neural(266;0.0199)		Gemtuzumab ozogamicin(DB00056)	AGGAGTCAGTGACGGTACAGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000262262.4	1	1	hg19	CCDS33084.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	1	0	1	78	326	0	92	0	6.047734e-01	0	10	0	92	2		0	0	0	0	0	2	1	1	76	322	0	92	2								-20.000000	1	1	121412	1	24	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD33	945	broad.mit.edu	37	19	51729117	51729117	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51729117A>C	ENST00000262262.4	+	3	498	c.477A>C	c.(475-477)aaA>aaC	p.K159N	CD33_ENST00000421133.2_Missense_Mutation_p.K32N|CD33_ENST00000436584.2_Missense_Mutation_p.K32N|CD33_ENST00000391796.3_Missense_Mutation_p.K159N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule			24		all_neural(266;0.0199)		Gemtuzumab ozogamicin(DB00056)	GCCACTCCAAAAACCTGACCT	0.597000																								0							SO:0001583	missense			ENST00000262262.4	1	1	hg19	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	5.940	0.357520	0.11239	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	2.66	-5.33	0.02713	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.962470	0.01326	U	0.011118	T	0.15089	0.0364	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26120	0.082;0.142;0.082	B;B;B	0.29663	0.105;0.037;0.065	T	0.19386	-1.0307	10	0.44086	T	0.13	.	5.2146	0.15336	0.2717:0.4967:0.2316:0.0	.	32;159;159	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	N	32;159;32;159	ENSP00000403331:K32N;ENSP00000262262:K159N;ENSP00000410126:K32N;ENSP00000375673:K159N	ENSP00000262262:K159N	K	+	3	2	CD33	56420929	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.755000	0.01814	-1.378000	0.02120	-0.666000	0.03841	AAA		TCGA-IB-7651-01A-11D-2154-08	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	1	0	1	126	529	0	121	0	9.651597e-01	0	25	0	121	2		0	0	0	0	0	2	1	1	123	510	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKG7	4818	broad.mit.edu	37	19	51875714	51875714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51875714C>T	ENST00000221978.5	-	1	255	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NKG7_ENST00000595217.1_Missense_Mutation_p.D26N|NKG7_ENST00000600427.1_Missense_Mutation_p.D26N	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7			10		all_neural(266;0.0199)			AACCAGAAATCGGTGCTCAAA	0.612000																								0							SO:0001583	missense			ENST00000221978.5	1	1	hg19	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435883	0.43224	0.0	1.16E-4	ENSG00000105374	ENST00000221978	D	0.89552	-2.53	4.98	-1.04	0.10068	.	0.464649	0.18207	N	0.148306	T	0.79246	0.4413	L	0.39397	1.21	0.23681	N	0.997127	B	0.28850	0.225	B	0.25759	0.063	T	0.63637	-0.6592	10	0.20519	T	0.43	0.9973	7.6275	0.28220	0.0:0.4564:0.0:0.5436	.	26	Q16617	NKG7_HUMAN	N	26	ENSP00000221978:D26N	ENSP00000221978:D26N	D	-	1	0	NKG7	56567526	0.001000	0.12720	0.452000	0.26994	0.434000	0.31775	-0.128000	0.10531	-0.229000	0.09854	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	1	0	1	128	418	0	114	0	1	0	146	0	114	2		0	0	0	0	0	2	1	1	127	413	0	113	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIM2	3982	broad.mit.edu	37	19	51883833	51883833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51883833C>T	ENST00000596399.1	-	4	433	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LIM2_ENST00000221973.3_Missense_Mutation_p.R171H	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa			7		all_neural(266;0.0529)			CCCAAAGCGGCGGCCCAGGAA	0.627000																								0							SO:0001583	missense			ENST00000596399.1	1	1	hg19	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148262	0.78001	.	.	ENSG00000105370	ENST00000221973	D	0.89196	-2.48	4.73	3.7	0.42460	.	0.069759	0.56097	D	0.000021	D	0.89136	0.6629	L	0.40543	1.245	0.39623	D	0.970065	D;D	0.89917	0.996;1.0	P;D	0.65773	0.888;0.938	D	0.88558	0.3121	10	0.59425	D	0.04	-30.4197	6.3299	0.21264	0.0:0.7947:0.0:0.2053	.	129;171	P55344;P55344-2	LMIP_HUMAN;.	H	171	ENSP00000221973:R171H	ENSP00000221973:R171H	R	-	2	0	LIM2	56575645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.178000	0.69098	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	1	0	1	175	740	0	169		0	0	0	0	169	2		0	0	0	0	0	2	1	1	168	716	0	169	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC10	89790	broad.mit.edu	37	19	51918657	51918657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51918657C>T	ENST00000339313.5	-	7	1224	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322I			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	p.V370L(1)|p.V312L(1)		58		all_neural(266;0.0199)			CCCTCCAGTACTGGGAGAGAC	0.632000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000339313.5	1	1	hg19	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.947344	0.34377	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.64	3.59	0.41128	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.417373	0.20806	N	0.085331	T	0.26122	0.0637	L	0.45470	1.425	0.24844	N	0.992441	D;D;D;D;D;D;P;P	0.89917	0.972;0.996;1.0;0.999;1.0;1.0;0.674;0.881	D;D;D;D;D;D;B;P	0.91635	0.946;0.998;0.999;0.988;0.999;0.999;0.291;0.694	T	0.01626	-1.1309	10	0.41790	T	0.15	.	9.0636	0.36449	0.0:0.8925:0.0:0.1075	.	322;280;370;222;370;312;312;370	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	I	370;287;222;370;312;280;312;322;370	ENSP00000342389:V370I;ENSP00000396742:V287I;ENSP00000395475:V222I;ENSP00000348646:V370I;ENSP00000408387:V312I;ENSP00000431444:V280I;ENSP00000389132:V312I;ENSP00000414324:V322I;ENSP00000345243:V370I	ENSP00000345243:V370I	V	-	1	0	SIGLEC10	56610469	0.940000	0.31905	0.759000	0.31340	0.187000	0.23431	2.191000	0.42640	2.135000	0.66039	0.462000	0.41574	GTA		TCGA-IB-7651-01A-11D-2154-08	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	1	0	1	47	319	0	67	0	9.999997e-01	0	154	0	67	2		0	0	0	0	0	2	1	1	47	311	0	67	2								-19.660490	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999909	0.990000	1	9.900000e-01	1
SIGLEC8	27181	broad.mit.edu	37	19	51957546	51957546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51957546G>A	ENST00000321424.3	-	6	1238	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8			50		all_neural(266;0.0199)			TGGCCTTGCCGATTTCTTCCT	0.597000																								0							SO:0001583	missense			ENST00000321424.3	1	1	hg19	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970335	0.34754	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.62941	1.35;-0.01;1.1	1.91	0.861	0.19048	.	.	.	.	.	T	0.58892	0.2154	L	0.53249	1.67	0.09310	N	1	P;D;D	0.67145	0.552;0.996;0.974	B;P;B	0.50617	0.067;0.646;0.184	T	0.48433	-0.9036	9	0.40728	T	0.16	.	4.1592	0.10275	0.2124:0.0:0.7876:0.0	.	282;298;391	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	282;391;298	ENSP00000389142:S282L;ENSP00000321077:S391L;ENSP00000339448:S298L	ENSP00000321077:S391L	S	-	2	0	SIGLEC8	56649358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.075000	0.14686	0.366000	0.24427	0.502000	0.49764	TCG		TCGA-IB-7651-01A-11D-2154-08	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	1	0	1	101	499	0	145	0	9.969075e-01	0	45	0	145	2		0	0	0	0	0	2	1	1	100	488	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC8	27181	broad.mit.edu	37	19	51960443	51960443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960443G>A	ENST00000321424.3	-	3	842	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8			50		all_neural(266;0.0199)			CCTACCTGTGGCATCTCCTTG	0.562000																								0							SO:0001583	missense			ENST00000321424.3	1	1	hg19	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	4.032	0.003496	0.07866	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.61859	0.07;1.16	2.01	-3.68	0.04463	Immunoglobulin-like (1);	1.464450	0.04674	N	0.411134	T	0.26484	0.0647	N	0.02368	-0.58	0.09310	N	1	B;B	0.18610	0.02;0.029	B;B	0.20577	0.03;0.028	T	0.07849	-1.0751	10	0.23891	T	0.37	.	3.4536	0.07507	0.0:0.3377:0.2129:0.4494	.	166;259	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	V	259;166	ENSP00000321077:A259V;ENSP00000339448:A166V	ENSP00000321077:A259V	A	-	2	0	SIGLEC8	56652255	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.241000	0.08940	-0.772000	0.04602	-1.650000	0.00758	GCC		TCGA-IB-7651-01A-11D-2154-08	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	0	0	1	85	417	1	122	0	9.983994e-01	0	72	1	122	4		0	0	0	0	0	2	1	1	83	413	1	121	15								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC8	27181	broad.mit.edu	37	19	51960871	51960871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960871C>T	ENST00000321424.3	-	2	643	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8			50		all_neural(266;0.0199)			ACGGAGGCCCCAATCCAGGAG	0.652000																								0							SO:0001583	missense			ENST00000321424.3	1	1	hg19	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344112	0.41498	.	.	ENSG00000105366	ENST00000321424	T	0.07800	3.16	2.69	1.6	0.23607	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.384458	0.18663	N	0.134666	T	0.17450	0.0419	M	0.86343	2.81	0.09310	N	1	D	0.53151	0.958	P	0.50405	0.64	T	0.10154	-1.0642	10	0.27082	T	0.32	.	6.7857	0.23672	0.2792:0.7208:0.0:0.0	.	193	Q9NYZ4	SIGL8_HUMAN	R	193	ENSP00000321077:G193R	ENSP00000321077:G193R	G	-	1	0	SIGLEC8	56652683	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.125000	0.15749	0.430000	0.26230	0.502000	0.49764	GGG		TCGA-IB-7651-01A-11D-2154-08	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	1	0	1	113	411	0	109	0	9.997259e-01	0	46	0	109	2		0	0	0	0	0	2	1	1	109	402	0	106	2								-3.674286	1	1	121412	1	29	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEACAM18	729767	broad.mit.edu	37	19	51983672	51983672	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983672C>T	ENST00000396477.4	+	2	159	c.138C>T	c.(136-138)gtC>gtT	p.V46V	CEACAM18_ENST00000451626.1_Silent_p.V107V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18			17		all_neural(266;0.0529)			ATCGGACTGTCGTGGCCCTGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000396477.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2	0	0	1	18	88	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999891e-01	17	88	0	29	2								-20.000000	1	1	120910	5	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999743	0.990000	1	9.900000e-01	1
CEACAM18	729767	broad.mit.edu	37	19	51983707	51983707	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983707A>G	ENST00000396477.4	+	2	194	c.173A>G	c.(172-174)gAa>gGa	p.E58G	CEACAM18_ENST00000451626.1_Missense_Mutation_p.E119G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18			17		all_neural(266;0.0529)			GATGTTCAGGAATACAGCTGG	0.567000																								0							SO:0001583	missense			ENST00000396477.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	.	0.177	-1.065486	0.01934	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.66815	-0.23	2.79	2.79	0.32731	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55337	0.1914	N	0.16130	0.375	0.09310	N	1	P	0.47106	0.89	P	0.55713	0.782	T	0.44862	-0.9300	9	0.07482	T	0.82	-6.6496	7.4747	0.27369	1.0:0.0:0.0:0.0	.	119	A8MTB9	CEA18_HUMAN	G	119;58;58	ENSP00000402203:E119G	ENSP00000379738:E58G	E	+	2	0	CEACAM18	56675519	0.029000	0.19370	0.161000	0.22692	0.065000	0.16274	0.378000	0.20569	1.567000	0.49668	0.529000	0.55759	GAA		TCGA-IB-7651-01A-11D-2154-08	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2	0	0	0	4	111	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	8.875139e-01	3	110	0	31	2								-7.232777	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.150000	1.000000	1.000000	0.525808	0.470000	0	2.800000e-01	7.900000e-01
SIGLEC12	89858	broad.mit.edu	37	19	52004877	52004877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52004877G>A	ENST00000291707.3	-	1	166	c.111C>T	c.(109-111)ggC>ggT	p.G37G	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)			61		all_neural(266;0.0199)			AGACACACAGGCCCTCCTGCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000291707.3	1	1	hg19	CCDS12833.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	1	0	1	54	270	0	76	0	7.663564e-02	0	3	0	76	2		0	0	0	0	0	2	1	1	50	267	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC6	946	broad.mit.edu	37	19	52033991	52033991	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52033991A>C	ENST00000425629.3	-	3	804	c.650T>G	c.(649-651)gTg>gGg	p.V217G	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.V217G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6			28		all_neural(266;0.0199)			AGGGAACGTCACCTGACAGGT	0.662000																								0							SO:0001583	missense			ENST00000425629.3	1	1	hg19	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711806	0.30322	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	3.6	2.57	0.30868	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.33691	N	0.004643	T	0.59918	0.2229	H	0.94462	3.54	0.46609	D	0.999123	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;D;D;D	0.87578	0.995;0.998;0.991;0.991;0.995;0.995	T	0.60414	-0.7268	10	0.87932	D	0	.	5.5093	0.16872	0.8679:0.0:0.1321:0.0	.	217;181;206;217;217;217	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	G	206;217;217;217;181;217	ENSP00000401502:V217G;ENSP00000353071:V217G;ENSP00000410679:V181G;ENSP00000345907:V217G	ENSP00000345907:V217G	V	-	2	0	SIGLEC6	56725803	0.012000	0.17670	0.508000	0.27688	0.115000	0.19883	0.974000	0.29436	0.569000	0.29329	0.460000	0.39030	GTG		TCGA-IB-7651-01A-11D-2154-08	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	1	0	1	100	413	0	84	0	4.841622e-01	0	8	0	84	2		0	0	0	0	0	2	1	1	98	407	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRS	5802	broad.mit.edu	37	19	5208314	5208314	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5208314A>G	ENST00000587303.1	-	35	5675	c.5576T>C	c.(5575-5577)tTc>tCc	p.F1859S	PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000372412.4_Missense_Mutation_p.F1860S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S			61				Alendronate(DB00630)|Etidronic acid(DB01077)	TTGGCCAATGAAGTCGATGAA	0.592000																								0							SO:0001583	missense			ENST00000587303.1	1	1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.021149	0.54576	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	2.89	2.89	0.33648	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	T	0.56963	0.2021	H	0.97186	3.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.994;1.0;0.997;1.0;0.999	T	0.68364	-0.5428	10	0.87932	D	0	.	10.2806	0.43537	1.0:0.0:0.0:0.0	.	1441;1412;1416;1821;1859;1454	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	1454;1860;1859;1859;1850;1839;1821;1441;1416;1412	ENSP00000361489:F1860S;ENSP00000349932:F1859S;ENSP00000262963:F1839S;ENSP00000269907:F1821S;ENSP00000327313:F1412S	ENSP00000262963:F1839S	F	-	2	0	PTPRS	5159314	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.946000	0.92992	1.199000	0.43173	0.235000	0.17854	TTC		TCGA-IB-7651-01A-11D-2154-08	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1	40	226	0	63	1	9.993877e-01	3	63	0	63	2		0	0	0	0	0	2	1	1	40	222	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
ZNF175	7728	broad.mit.edu	37	19	52090174	52090174	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52090174A>G	ENST00000262259.2	+	5	948	c.590A>G	c.(589-591)aAa>aGa	p.K197R	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175			24		all_neural(266;0.0299)			CAACCTCAGAAATGTTGCTTA	0.418000																								0							SO:0001583	missense			ENST00000262259.2	1	1	hg19	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	A	8.124	0.781600	0.16120	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.2	-1.37	0.09056	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.40440	-0.9563	9	0.46703	T	0.11	.	3.398	0.07313	0.2846:0.0:0.1349:0.5805	.	197	Q9Y473	ZN175_HUMAN	R	197	ENSP00000262259:K197R	ENSP00000262259:K197R	K	+	2	0	ZNF175	56781986	0.000000	0.05858	0.001000	0.08648	0.728000	0.41692	-0.003000	0.12901	-0.459000	0.07013	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	1	0	1	84	405	0	77	1	9.090058e-01	6	16	0	77	2		0	0	0	0	0	2	1	1	84	399	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRS	5802	broad.mit.edu	37	19	5212104	5212104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5212104C>T	ENST00000587303.1	-	31	5026	c.4927G>A	c.(4927-4929)Gag>Aag	p.E1643K	PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1644K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S			61				Alendronate(DB00630)|Etidronic acid(DB01077)	AGCAGGGCCTCGTGGATGAAG	0.607000																								0							SO:0001583	missense			ENST00000587303.1	1	1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517167	0.64634	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	2.47	2.47	0.30058	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.177742	0.35772	U	0.002986	T	0.28067	0.0692	N	0.12746	0.255	0.40297	D	0.978561	P;B;P;D;P;P	0.53312	0.703;0.154;0.832;0.959;0.894;0.878	P;B;P;P;P;P	0.53861	0.495;0.1;0.495;0.615;0.736;0.501	T	0.31392	-0.9945	10	0.72032	D	0.01	.	13.3072	0.60359	0.0:1.0:0.0:0.0	.	1225;1196;1200;1605;1643;1238	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	1238;1644;1643;1643;1634;1623;1605;1225;1200;1196	ENSP00000361489:E1644K;ENSP00000349932:E1643K;ENSP00000262963:E1623K;ENSP00000269907:E1605K;ENSP00000327313:E1196K	ENSP00000262963:E1623K	E	-	1	0	PTPRS	5163104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.800000	0.69108	1.399000	0.46721	0.478000	0.44815	GAG		TCGA-IB-7651-01A-11D-2154-08	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1	73	292	0	60	0	9.950610e-01	0	35	0	60	2		0	0	0	0	0	2	1	1	72	290	0	60	2								-3.541402	1	1	121410	3	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC5	8778	broad.mit.edu	37	19	52131089	52131089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52131089T>C	ENST00000534261.2	-	6	1394	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5			27		all_neural(266;0.0726)			ACACTCACAGTAAACTGAGAG	0.562000																								0							SO:0001583	missense			ENST00000534261.2	1	1	hg19	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	T	6.664	0.491118	0.12702	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.15603	2.41;2.41	3.63	-6.49	0.01890	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.34502	-0.9826	9	0.39692	T	0.17	.	5.1519	0.15015	0.5989:0.1984:0.0:0.2026	.	332	O15389	SIGL5_HUMAN	C	332	ENSP00000222107:Y332C;ENSP00000415200:Y332C	ENSP00000222107:Y332C	Y	-	2	0	SIGLEC5	56822901	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-1.955000	0.01523	-1.795000	0.01255	-0.421000	0.06004	TAC		TCGA-IB-7651-01A-11D-2154-08	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	1	0	1	52	191	0	50	0	4.660919e-01	0	7	0	50	2		0	0	0	0	0	2	1	1	51	186	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC14	100049587	broad.mit.edu	37	19	52149521	52149521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52149521A>G	ENST00000360844.6	-	2	451	c.410T>C	c.(409-411)tTg>tCg	p.L137S	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.L137S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14			29		all_neural(266;0.0299)			TGTCACCTCCAAGTTCAGCTT	0.552000																								0							SO:0001583	missense			ENST00000360844.6	1	1	hg19	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.352761	0.41700	.	.	ENSG00000105501;ENSG00000254415	ENST00000222107;ENST00000360844	T;T	0.68479	-0.33;-0.33	3.09	3.09	0.35607	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.234553	0.21568	N	0.072458	T	0.80954	0.4723	M	0.86953	2.85	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69624	-0.5095	10	0.87932	D	0	.	7.8471	0.29431	1.0:0.0:0.0:0.0	.	137	Q08ET2	SIG14_HUMAN	S	137	ENSP00000222107:L137S;ENSP00000354090:L137S	ENSP00000354090:L137S	L	-	2	0	SIGLEC5;SIGLEC14	56841333	0.000000	0.05858	0.136000	0.22124	0.031000	0.12232	0.278000	0.18753	1.429000	0.47314	0.416000	0.27883	TTG		TCGA-IB-7651-01A-11D-2154-08	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	0	0	0	29	643	0	140	0	2.699871e-02	0	6	0	140	2		0	0	0	0	0	2	1	1	28	606	0	254	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.520000	0.350000	1.000000	0.500000	0.562925	0.520000	0	4.300000e-01	6.600000e-01
HAS1	3036	broad.mit.edu	37	19	52216735	52216735	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52216735A>G	ENST00000222115.1	-	5	1716	c.1682T>C	c.(1681-1683)gTg>gCg	p.V561A	HAS1_ENST00000601714.1_Missense_Mutation_p.V568A|HAS1_ENST00000540069.2_Missense_Mutation_p.V560A	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1			40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)			CCGCACGCCCACCCAGTACAG	0.721000													NSCLC(132;636 2450 45807 47979)											0							SO:0001583	missense			ENST00000222115.1	0	1	hg19	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	a	8.664	0.901231	0.17760	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.31769	1.49;1.48	3.25	2.1	0.27182	.	0.402692	0.21754	U	0.069627	T	0.16685	0.0401	N	0.21282	0.65	0.24831	N	0.992526	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.15607	-1.0431	10	0.20046	T	0.44	-16.5581	7.6722	0.28465	0.7877:0.2123:0.0:0.0	.	560;561;560	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	A	560;561	ENSP00000445021:V560A;ENSP00000222115:V561A	ENSP00000222115:V561A	V	-	2	0	HAS1	56908547	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.442000	0.66575	1.484000	0.48361	0.147000	0.16070	GTG		TCGA-IB-7651-01A-11D-2154-08	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	1	0	0	10	119	0	17	0	6.254775e-02	1	4	0	17	2		0	0	0	0	0	2	1	9.971383e-01	10	118	0	17	2								-15.506200	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.960000	0.490000	1.000000	1.000000	0.879517	0.960000	1	6.900000e-01	1
HAS1	3036	broad.mit.edu	37	19	52217270	52217270	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52217270A>G	ENST00000222115.1	-	5	1181	c.1147T>C	c.(1147-1149)Tac>Cac	p.Y383H	HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H|HAS1_ENST00000594621.1_Missense_Mutation_p.V212A|HAS1_ENST00000540069.2_Missense_Mutation_p.Y382H	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1			40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)			TCACGGAAGTACGACTTGGAC	0.652000													NSCLC(132;636 2450 45807 47979)											0							SO:0001583	missense			ENST00000222115.1	1	1	hg19	CCDS12838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.36|15.36	2.811727|2.811727	0.50527|0.50527	.|.	.|.	ENSG00000105509|ENSG00000105509	ENST00000376738|ENST00000540069;ENST00000222115	.|T;T	.|0.59502	.|0.26;0.26	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.67951|0.67951	0.2948|0.2948	M|M	0.63843|0.63843	1.955|1.955	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D;D	.|0.56968	.|0.973;0.978;0.978	.|D;P;P	.|0.63877	.|0.919;0.896;0.896	T|T	0.70687|0.70687	-0.4803|-0.4803	6|10	0.87932|0.87932	D|D	0|0	-29.6232|-29.6232	9.7917|9.7917	0.40710|0.40710	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|382;383;382	.|G3V1S7;Q92839;Q8IYH3	.|.;HAS1_HUMAN;.	A|H	212|382;383	.|ENSP00000445021:Y382H;ENSP00000222115:Y383H	ENSP00000365928:V212A|ENSP00000222115:Y383H	V|Y	-|-	2|1	0|0	HAS1|HAS1	56909082|56909082	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.211000|0.211000	0.24417|0.24417	9.026000|9.026000	0.93700|0.93700	1.480000|1.480000	0.48289|0.48289	0.147000|0.147000	0.16070|0.16070	GTA|TAC		TCGA-IB-7651-01A-11D-2154-08	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	1	0	1	32	119	0	23	0	9.789974e-01	0	26	0	23	2		0	0	0	0	0	2	1	1	32	116	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRS	5802	broad.mit.edu	37	19	5222822	5222822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5222822G>A	ENST00000587303.1	-	17	3080	c.2981C>T	c.(2980-2982)gCg>gTg	p.A994V	PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A995V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S			61				Alendronate(DB00630)|Etidronic acid(DB01077)	CAGCGTGAGCGCGTTCTCCGC	0.731000																								0							SO:0001583	missense			ENST00000587303.1	1	1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	5.095	0.203235	0.09704	4.76E-4	0.0	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.33	-0.79	0.10932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.405543	0.21402	N	0.075123	T	0.37265	0.0997	L	0.39020	1.185	0.19575	N	0.999969	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.21143	-1.0254	10	0.29301	T	0.29	.	10.5921	0.45316	0.2704:0.0:0.7296:0.0	.	972;994	Q13332-6;Q13332	.;PTPRS_HUMAN	V	995;994;994;985;990;972	ENSP00000361489:A995V;ENSP00000349932:A994V;ENSP00000262963:A990V;ENSP00000269907:A972V	ENSP00000262963:A990V	A	-	2	0	PTPRS	5173822	0.450000	0.25697	0.820000	0.32676	0.232000	0.25224	0.394000	0.20834	-0.270000	0.09285	-0.993000	0.02533	GCG		TCGA-IB-7651-01A-11D-2154-08	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	0	45	198	0	34	0	3.587191e-02	1	1	0	34	2		0	0	0	0	0	2	1	1	45	197	0	33	2								-20.000000	1	1	116912	14	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FPR1	2357	broad.mit.edu	37	19	52250008	52250008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52250008G>T	ENST00000595042.1	-	3	381	c.240C>A	c.(238-240)ttC>ttA	p.F80L	FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1			20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		Nedocromil(DB00716)	TGACCATGAAGAATGGCAAAG	0.512000																								0							SO:0001583	missense			ENST00000595042.1	1	1	hg19	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	1.356	-0.590198	0.03799	.	.	ENSG00000171051	ENST00000304748	T	0.37235	1.21	3.72	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	0.157463	0.41500	D	0.000871	T	0.30978	0.0782	L	0.53617	1.68	0.09310	N	0.999998	B	0.23806	0.091	B	0.38803	0.282	T	0.42616	-0.9441	10	0.08179	T	0.78	.	8.2744	0.31864	0.3968:0.0:0.6032:0.0	.	80	P21462	FPR1_HUMAN	L	80	ENSP00000302707:F80L	ENSP00000302707:F80L	F	-	3	2	FPR1	56941820	0.109000	0.22037	0.001000	0.08648	0.002000	0.02628	0.430000	0.21428	-0.301000	0.08882	-0.251000	0.11542	TTC		TCGA-IB-7651-01A-11D-2154-08	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	1	0	1	66	301	0	86	0	9.995128e-01	1	53	0	86	2		0	0	0	0	0	2	1	1	65	298	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FPR3	2359	broad.mit.edu	37	19	52327369	52327369	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52327369G>A	ENST00000339223.4	+	2	547	c.368G>A	c.(367-369)cGc>cAc	p.R123H	FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3			35					GCTCTGGACCGCTGTATTTGT	0.478000																								0							SO:0001583	missense			ENST00000339223.4	1	1	hg19	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.850699	0.32699	.	.	ENSG00000187474	ENST00000339223	D	0.97161	-4.27	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.97297	0.9116	M	0.91406	3.205	0.32098	N	0.590994	B	0.30605	0.287	B	0.40228	0.323	D	0.99869	1.1094	10	0.56958	D	0.05	.	10.3497	0.43927	0.0:0.0:1.0:0.0	.	123	P25089	FPR3_HUMAN	H	123	ENSP00000341821:R123H	ENSP00000341821:R123H	R	+	2	0	FPR3	57019181	1.000000	0.71417	0.967000	0.41034	0.071000	0.16799	4.369000	0.59511	1.323000	0.45263	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	1	0	1	41	373	0	77	0	9.999999e-01	0	221	0	77	2		0	0	0	0	0	2	1	1	40	364	0	76	2								-3.075755	1	1	121410	4	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.860000	1.000000	1.000000	0.990085	0.990000	1	9.900000e-01	1
ZNF577	84765	broad.mit.edu	37	19	52375983	52375983	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52375983T>A	ENST00000301399.5	-	7	1625	c.1260A>T	c.(1258-1260)tcA>tcT	p.S420S	ZNF577_ENST00000420592.1_Silent_p.S361S|ZNF577_ENST00000451628.2_Silent_p.S361S|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577			21		all_neural(266;0.0602)			GCGGGGTTCCTGAGGAAGGCA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000301399.5	1	1	hg19	CCDS12842.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	1	0	1	62	331	0	97	0	1.818691e-01	1	4	0	97	2		0	0	0	0	0	2	1	1	61	324	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF577	84765	broad.mit.edu	37	19	52376486	52376486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52376486G>A	ENST00000301399.5	-	7	1122	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	ZNF577_ENST00000420592.1_Missense_Mutation_p.R194W|ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577			21		all_neural(266;0.0602)			CGGCACTTCCGGCTGAAGGCT	0.498000																								0							SO:0001583	missense			ENST00000301399.5	1	1	hg19	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	1.638	-0.517341	0.04171	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	3.1	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	M	0.67569	2.06	0.09310	N	1	B;P	0.34837	0.097;0.472	B;B	0.18263	0.007;0.021	T	0.29971	-0.9994	9	0.32370	T	0.25	.	0.3231	0.00306	0.2893:0.1341:0.2085:0.3681	.	253;194	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	W	253;194;194;253	ENSP00000301399:R253W;ENSP00000413476:R194W;ENSP00000389652:R194W;ENSP00000404509:R253W	ENSP00000301399:R253W	R	-	1	2	ZNF577	57068298	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.151000	0.00582	-0.835000	0.04234	-0.140000	0.14226	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	1	0	1	50	180	0	45	1	4.727844e-01	2	5	0	45	2		0	0	0	0	0	2	1	1	50	180	0	45	2								-20.000000	1	1	121412	2	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF649	65251	broad.mit.edu	37	19	52394210	52394210	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394210C>A	ENST00000354957.3	-	5	1463	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649			29		all_neural(266;0.0602)			AGTGAATTTTCTGATGTCTAA	0.443000																								0							SO:0001583	missense			ENST00000354957.3	1	1	hg19	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	9.496	1.101881	0.20632	.	.	ENSG00000198093	ENST00000354957	T	0.18502	2.21	2.63	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	L	0.48642	1.525	0.22017	N	0.99942	B	0.12013	0.005	B	0.10450	0.005	T	0.31613	-0.9937	9	0.51188	T	0.08	.	2.3609	0.04307	0.2421:0.4756:0.0:0.2823	.	393	Q9BS31	ZN649_HUMAN	H	393	ENSP00000347043:Q393H	ENSP00000347043:Q393H	Q	-	3	2	ZNF649	57086022	0.000000	0.05858	0.850000	0.33497	0.186000	0.23388	-0.279000	0.08479	0.318000	0.23185	0.404000	0.27445	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	1	0	1	138	588	0	136	1	9.272544e-01	2	19	0	136	2		0	0	0	0	0	2	1	1	134	578	1	136	18								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF649	65251	broad.mit.edu	37	19	52394796	52394796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394796C>A	ENST00000354957.3	-	5	877	c.593G>T	c.(592-594)aGa>aTa	p.R198I	ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649			29		all_neural(266;0.0602)			TGTATGAATTCTCTTATGCTC	0.458000																								0							SO:0001583	missense			ENST00000354957.3	1	1	hg19	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	8.377	0.836738	0.16891	0.0	1.16E-4	ENSG00000198093	ENST00000354957	T	0.24908	1.83	2.79	-5.05	0.02955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	M	0.80422	2.495	0.09310	N	1	B	0.19935	0.04	B	0.14578	0.011	T	0.47573	-0.9107	9	0.72032	D	0.01	.	0.4485	0.00497	0.267:0.3071:0.1322:0.2937	.	198	Q9BS31	ZN649_HUMAN	I	198	ENSP00000347043:R198I	ENSP00000347043:R198I	R	-	2	0	ZNF649	57086608	0.000000	0.05858	0.001000	0.08648	0.316000	0.28119	-0.963000	0.03837	-0.788000	0.04504	0.404000	0.27445	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	1	0	1	133	607	0	160	0	8.093502e-01	0	16	0	160	2		0	0	0	0	0	2	1	1	130	599	0	159	2								-20.000000	1	1	121412	4	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRS	5802	broad.mit.edu	37	19	5244271	5244271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244271G>A	ENST00000587303.1	-	10	1310	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A405V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S			61				Alendronate(DB00630)|Etidronic acid(DB01077)	GGAGTTGACGGCCGACACCCA	0.667000																								0							SO:0001583	missense			ENST00000587303.1	0	1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573156	0.65765	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	3.93	2.89	0.33648	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000004	D	0.85314	0.5668	H	0.95679	3.705	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.999;0.994;0.999;1.0;0.996	D;D;D;D;D;D	0.97110	0.99;0.983;0.95;0.969;1.0;0.935	D	0.87772	0.2606	10	0.87932	D	0	.	11.3321	0.49482	0.0894:0.0:0.9106:0.0	.	404;391;395;391;404;417	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	417;405;404;404;404;400;391;404;395;391	ENSP00000361489:A405V;ENSP00000349932:A404V;ENSP00000262963:A400V;ENSP00000269907:A391V;ENSP00000327313:A391V	ENSP00000262963:A400V	A	-	2	0	PTPRS	5195271	1.000000	0.71417	0.274000	0.24659	0.419000	0.31324	9.517000	0.98020	0.888000	0.36160	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	0	0	0	38	304	1	46	0	1.849438e-01	1	6	1	46	2		0	0	0	0	0	2	1	9.866191e-01	37	298	1	45	22								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.960000	1.000000	1.000000	0.997466	0.990000	1	9.900000e-01	1
PTPRS	5802	broad.mit.edu	37	19	5244425	5244425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244425C>T	ENST00000587303.1	-	10	1156	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000372412.4_Missense_Mutation_p.D354N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S			61				Alendronate(DB00630)|Etidronic acid(DB01077)	TTGCCCGAGTCCCACGTGATG	0.552000																								0							SO:0001583	missense			ENST00000587303.1	1	1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887699	0.91814	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000002	T	0.67692	0.2920	L	0.54323	1.7	0.32005	N	0.602871	D;P;D;D;D;D	0.89917	0.991;0.865;0.981;0.999;1.0;0.959	P;B;P;D;D;P	0.91635	0.763;0.425;0.763;0.973;0.999;0.721	T	0.74665	-0.3589	10	0.62326	D	0.03	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	353;340;344;340;353;366	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	N	366;354;353;353;353;349;340;353;344;340	ENSP00000361489:D354N;ENSP00000349932:D353N;ENSP00000262963:D349N;ENSP00000269907:D340N;ENSP00000327313:D340N	ENSP00000262963:D349N	D	-	1	0	PTPRS	5195425	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1	65	274	0	62	0	9.155048e-01	0	20	0	62	2		0	0	0	0	0	2	1	1	63	267	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF613	79898	broad.mit.edu	37	19	52447542	52447542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52447542C>T	ENST00000293471.6	+	6	1085	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	ZNF613_ENST00000391794.4_Silent_p.L100L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613			19		all_neural(266;0.117)			TGGGAAAATACTGAAATCAAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000293471.6	0	1	hg19	CCDS33089.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	0	0	0	9	286	0	60	0	4.522257e-02	0	10	0	60	2		0	0	0	0	0	2	1	9.941425e-01	9	283	0	60	2								-9.938825	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.380000	0.180000	1.000000	0.360000	0.442294	0.380000	0	2.700000e-01	5.700000e-01
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613			19		all_neural(266;0.117)			AAAGCATTCCGCTGGAAATCA	0.458000																								0							SO:0001583	missense			ENST00000293471.6	1	1	hg19	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905323	0.52333	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07567	3.18;3.18	3.26	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.950270	0.02940	N	0.140304	T	0.10981	0.0268	L	0.53249	1.67	0.22926	N	0.998558	B	0.25351	0.124	B	0.23419	0.046	T	0.32428	-0.9907	10	0.54805	T	0.06	.	4.6272	0.12484	0.1284:0.2282:0.6434:0.0	.	354	Q6PF04	ZN613_HUMAN	H	354;318;28	ENSP00000293471:R354H;ENSP00000375671:R318H	ENSP00000293471:R354H	R	+	2	0	ZNF613	57140009	0.000000	0.05858	0.793000	0.32043	0.922000	0.55478	-2.036000	0.01421	0.708000	0.31955	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	1	0	1	59	414	0	98	1	5.783334e-01	3	12	0	98	2		0	0	0	0	0	2	1	1	59	402	0	97	2								-3.017768	1	1	121412	2	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
ZNF613	79898	broad.mit.edu	37	19	52448557	52448557	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448557A>G	ENST00000293471.6	+	6	2100	c.1421A>G	c.(1420-1422)cAc>cGc	p.H474R	ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613			19		all_neural(266;0.117)			CTCATTAACCACCAGAGAATT	0.418000																								0							SO:0001583	missense			ENST00000293471.6	1	1	hg19	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523677	0.64747	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	D;D	0.86865	-2.18;-2.18	3.36	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002058	D	0.94542	0.8242	H	0.94964	3.605	0.35510	D	0.800563	D	0.89917	1.0	D	0.91635	0.999	D	0.97054	0.9766	10	0.87932	D	0	.	11.2125	0.48806	1.0:0.0:0.0:0.0	.	474	Q6PF04	ZN613_HUMAN	R	474;438;148	ENSP00000293471:H474R;ENSP00000375671:H438R	ENSP00000293471:H474R	H	+	2	0	ZNF613	57140369	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.074000	0.64401	1.543000	0.49345	0.533000	0.62120	CAC		TCGA-IB-7651-01A-11D-2154-08	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	0	0	1	61	282	0	71	1	8.013815e-01	6	10	0	71	2		0	0	0	0	0	2	1	1	61	274	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF350	59348	broad.mit.edu	37	19	52468200	52468200	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52468200T>C	ENST00000243644.4	-	5	1733	c.1506A>G	c.(1504-1506)ggA>ggG	p.G502G	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350			26		all_neural(266;0.0505)			CCTGTGCAAATCCTCTGTTAT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000243644.4	1	1	hg19	CCDS12845.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	1	0	1	67	265	0	73	1	9.650746e-01	3	21	0	73	2		0	0	0	0	0	2	1	1	66	259	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF615	284370	broad.mit.edu	37	19	52496865	52496865	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496865A>C	ENST00000602063.1	-	6	1813	c.1464T>G	c.(1462-1464)gaT>gaG	p.D488E	ZNF615_ENST00000391795.3_Missense_Mutation_p.D493E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D488E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D499E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D499E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615			42		all_neural(266;0.117)			CTTTTCCACAATCATTGCATA	0.438000																								0							SO:0001583	missense			ENST00000602063.1	1	0	hg19	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	1.214	-0.628841	0.03610	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.35605	1.3;1.3	2.86	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.02345	-0.59	0.09310	N	0.999998	B;B;B;B	0.11235	0.004;0.003;0.003;0.004	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.26087	-1.0113	9	0.02654	T	1	.	0.3509	0.00349	0.228:0.2366:0.2801:0.2553	.	493;495;499;488	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	488;498;493;498	ENSP00000365906:D488E;ENSP00000375672:D493E	ENSP00000347019:D498E	D	-	3	2	ZNF615	57188677	0.000000	0.05858	0.152000	0.22495	0.878000	0.50629	-9.482000	0.00011	-1.000000	0.03438	0.402000	0.26972	GAT		TCGA-IB-7651-01A-11D-2154-08	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	1	0	1	65	207	0	53	0	9.572355e-01	1	18	0	53	2		0	0	0	0	0	2	1	1	62	205	0	53	2								-4.205049	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF615	284370	broad.mit.edu	37	19	52496964	52496964	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496964G>A	ENST00000602063.1	-	6	1714	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000376716.5_Silent_p.P455P|ZNF615_ENST00000594083.1_Silent_p.P466P|ZNF615_ENST00000598071.1_Silent_p.P466P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615			42		all_neural(266;0.117)			TGCATACATAGGGTTTCTCTC	0.428000																								0							SO:0001819	synonymous_variant			ENST00000602063.1	1	1	hg19	CCDS12846.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	1	0	1	52	226	0	46	1	8.730463e-01	6	12	0	46	2		0	0	0	0	0	2	1	1	52	220	0	46	2								-3.043619	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF615	284370	broad.mit.edu	37	19	52497170	52497170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497170G>T	ENST00000602063.1	-	6	1508	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615			42		all_neural(266;0.117)			TGTGTGATAAGACTGTTCTTC	0.398000																								0							SO:0001583	missense			ENST00000602063.1	1	1	hg19	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004858	0.54254	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.53857	0.6;0.6	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75852	0.3906	M	0.88450	2.955	0.29985	N	0.817342	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74390	-0.3681	9	0.87932	D	0	.	13.7922	0.63148	0.0:0.0:1.0:0.0	.	392;394;398;387	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	I	387;397;392;397	ENSP00000365906:L387I;ENSP00000375672:L392I	ENSP00000347019:L397I	L	-	1	0	ZNF615	57188982	0.285000	0.24296	0.284000	0.24805	0.778000	0.44026	2.867000	0.48428	1.797000	0.52628	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	1	0	1	83	340	0	80	0	6.674807e-01	0	11	0	80	2		0	0	0	0	0	2	1	1	83	332	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF615	284370	broad.mit.edu	37	19	52497300	52497300	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497300A>C	ENST00000602063.1	-	6	1378	c.1029T>G	c.(1027-1029)ccT>ccG	p.P343P	ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000376716.5_Silent_p.P343P|ZNF615_ENST00000594083.1_Silent_p.P354P|ZNF615_ENST00000598071.1_Silent_p.P354P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615			42		all_neural(266;0.117)			TACATATATAAGGTTTTTCTC	0.403000																								0							SO:0001819	synonymous_variant			ENST00000602063.1	1	0	hg19	CCDS12846.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	1	0	1	108	459	0	111	1	8.809364e-01	2	16	0	111	2		0	0	0	0	0	2	1	1	108	447	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF614	80110	broad.mit.edu	37	19	52519953	52519953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52519953G>A	ENST00000270649.6	-	5	1442	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614			24		all_neural(266;0.0505)			ATTAGATAGCGCTTCATTGTA	0.408000																								0							SO:0001583	missense			ENST00000270649.6	1	1	hg19	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920886	0.17982	.	.	ENSG00000142556	ENST00000270649	T	0.15487	2.42	3.85	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	L	0.39514	1.22	0.09310	N	1	D	0.62365	0.991	P	0.48654	0.585	T	0.18745	-1.0327	9	0.59425	D	0.04	.	0.7601	0.01005	0.284:0.2795:0.2808:0.1557	.	300	Q8N883	ZN614_HUMAN	C	300	ENSP00000270649:R300C	ENSP00000270649:R300C	R	-	1	0	ZNF614	57211765	0.000000	0.05858	0.074000	0.20217	0.993000	0.82548	-0.955000	0.03869	0.290000	0.22444	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	1	0	1	96	496	0	114	0	6.477662e-01	1	12	0	114	2		0	0	0	0	0	2	1	1	95	487	0	112	2								-20.000000	1	1	121412	1	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF614	80110	broad.mit.edu	37	19	52520505	52520505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52520505G>T	ENST00000270649.6	-	5	890	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614			24		all_neural(266;0.0505)			GTCTTGCTGAGATGTACAATA	0.358000																								0							SO:0001583	missense			ENST00000270649.6	1	1	hg19	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	3.983	-0.005997	0.07773	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.07688	5.93;3.17	2.58	0.269	0.15631	.	.	.	.	.	T	0.04272	0.0118	L	0.27053	0.805	0.20196	N	0.999921	P;P	0.44195	0.828;0.69	B;B	0.36289	0.221;0.109	T	0.38457	-0.9660	9	0.23302	T	0.38	.	3.6231	0.08103	0.1561:0.263:0.5809:0.0	.	116;116	Q8N883;Q9BSN8	ZN614_HUMAN;.	I	116	ENSP00000348674:L116I;ENSP00000270649:L116I	ENSP00000270649:L116I	L	-	1	0	ZNF614	57212317	0.000000	0.05858	0.025000	0.17156	0.017000	0.09413	-0.340000	0.07821	0.145000	0.18977	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	1	0	1	51	220	0	47	1	8.020041e-01	2	13	0	47	2		0	0	0	0	0	2	1	1	51	217	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF432	9668	broad.mit.edu	37	19	52550105	52550105	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52550105A>G	ENST00000594154.1	-	2	228		c.e2+1		ZNF432_ENST00000221315.5_Splice_Site|ZNF432_ENST00000598446.1_5'Flank|ZNF432_ENST00000597273.1_Splice_Site			O94892	ZN432_HUMAN	zinc finger protein 432			29		all_neural(266;0.117)			AGAAAAAGTCACCTGGGCATT	0.363000																								0							SO:0001630	splice_region_variant			ENST00000594154.1	1	1	hg19	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614332	0.28712	.	.	ENSG00000256087	ENST00000221315	.	.	.	2.8	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4475	0.27219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF432	57241917	0.993000	0.37304	0.933000	0.37362	0.574000	0.36063	2.304000	0.43655	1.508000	0.48769	0.496000	0.49642	.		TCGA-IB-7651-01A-11D-2154-08	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	1	0	1	37	173	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	37	171	0	45	2								-19.932730	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF616	90317	broad.mit.edu	37	19	52618157	52618157	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618157A>C	ENST00000600228.1	-	4	2521	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616			48					CGACAAATAAAAGATTTCCCA	0.408000																								0							SO:0001583	missense			ENST00000600228.1	1	1	hg19	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	A	9.284	1.048981	0.19827	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79913	0.4528	H	0.98351	4.21	0.09310	N	0.999998	D	0.69078	0.997	D	0.87578	0.998	T	0.66571	-0.5890	8	0.87932	D	0	.	6.943	0.24502	0.7646:0.2354:0.0:0.0	.	754	Q08AN1	ZN616_HUMAN	V	754	.	ENSP00000328722:F754V	F	-	1	0	ZNF616	57309969	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.690000	0.37711	0.036000	0.15547	-0.636000	0.03981	TTT		TCGA-IB-7651-01A-11D-2154-08	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	1	0	1	101	363	0	87	1	9.944363e-01	5	26	0	87	2		0	0	0	0	0	2	1	1	99	361	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF616	90317	broad.mit.edu	37	19	52618727	52618727	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618727G>T	ENST00000600228.1	-	4	1951	c.1690C>A	c.(1690-1692)Ctt>Att	p.L564I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616			48					TGCACTGTAAGACGTGAACAT	0.443000																								0							SO:0001583	missense			ENST00000600228.1	0	1	hg19	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739390	0.30774	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.24	-1.25	0.09405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65196	0.2668	M	0.89030	3	0.09310	N	1	D	0.69078	0.997	D	0.79784	0.993	T	0.53995	-0.8359	8	0.72032	D	0.01	.	2.527	0.04694	0.3208:0.0:0.4485:0.2307	.	564	Q08AN1	ZN616_HUMAN	I	564	.	ENSP00000328722:L564I	L	-	1	0	ZNF616	57310539	0.048000	0.20356	0.000000	0.03702	0.038000	0.13279	0.316000	0.19469	-0.339000	0.08401	-0.350000	0.07774	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	0	0	0	8	379	0	77	0	2.452744e-01	0	41	0	77	2		0	0	0	0	0	2	1	9.886109e-01	8	371	0	76	2								-7.697960	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.260000	0.120000	1.000000	0.250000	0.330174	0.260000	0	1.800000e-01	4.000000e-01
ZNF616	90317	broad.mit.edu	37	19	52619913	52619913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52619913C>A	ENST00000600228.1	-	4	765	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616			48					TATTACCTGTCTTCTCCGTTT	0.373000																								0							SO:0001583	missense			ENST00000600228.1	1	1	hg19	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	6.274	0.418606	0.11870	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	0.48	0.16804	.	.	.	.	.	T	0.46054	0.1373	M	0.82823	2.61	0.09310	N	1	P	0.41450	0.75	B	0.43360	0.417	T	0.40136	-0.9579	8	0.56958	D	0.05	.	4.9941	0.14230	0.0:0.6544:0.0:0.3456	.	168	Q08AN1	ZN616_HUMAN	N	168	.	ENSP00000328722:K168N	K	-	3	2	ZNF616	57311725	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.389000	0.02530	0.029000	0.15352	0.305000	0.20034	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	1	0	0	54	562	0	133	0	6.586270e-01	0	25	0	133	2		0	0	0	0	0	2	1	1	54	554	0	131	2								-14.970210	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.790000	1.000000	1.000000	0.970201	0.990000	1	9.100000e-01	1
ZNF836	162962	broad.mit.edu	37	19	52658722	52658722	+	Silent	SNP	C	C	T	rs139619574	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658722C>T	ENST00000322146.8	-	5	2735	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.T738T	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836			26					TCTGATGGTACGTCAGGCCTG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000322146.8	1	1	hg19	CCDS46162.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	0	0	0	26	255	0	51	0	1.749936e-01	1	7	0	51	2		0	0	0	0	0	2	1	9.999999e-01	26	251	0	51	2								-3.318794	1	1	121102	5	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.740000	1.000000	1.000000	0.968452	0.990000	1	9.100000e-01	1
ZNF836	162962	broad.mit.edu	37	19	52658887	52658887	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658887T>C	ENST00000322146.8	-	5	2570	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.K683K	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836			26					TTATCAGATGTTTAGTGAGGC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000322146.8	1	1	hg19	CCDS46162.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	1	0	1	93	399	0	83	0	3.199506e-01	1	5	0	83	2		0	0	0	0	0	2	1	1	92	394	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R1A	5518	broad.mit.edu	37	19	52729015	52729015	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52729015G>T	ENST00000322088.6	+	14	1765	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H|CTD-2525I3.3_ENST00000599125.1_RNA|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha			135					AGCTGACCCAGGACCAGGATG	0.567000			Mis		clear cell ovarian carcinoma										Dom?	yes		19	19q13.41	5518	protein phosphatase 2, regulatory subunit A, alpha		E	0							SO:0001583	missense			ENST00000322088.6	1	1	hg19	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080854	0.36758	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.33438	1.41;2.36	4.33	4.33	0.51752	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000048	T	0.25082	0.0609	L	0.45228	1.405	0.46927	D	0.999252	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.09530	-1.0670	10	0.62326	D	0.03	-26.7592	8.3321	0.32193	0.1055:0.0:0.8945:0.0	.	514;569	F5H3X9;P30153	.;2AAA_HUMAN	H	559;489;569;136;514	ENSP00000324804:Q569H;ENSP00000415067:Q514H	ENSP00000324804:Q569H	Q	+	3	2	PPP2R1A	57420827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.085000	0.30840	2.413000	0.81919	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	1	0	1	94	416	0	164	1	1	318	820	0	164	2		0	0	0	0	0	2	1	1	92	407	0	163	2								-3.171615	1	1	121412	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF480	147657	broad.mit.edu	37	19	52819145	52819145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52819145G>A	ENST00000595962.1	+	4	324	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ZNF480_ENST00000334564.7_Intron|ZNF480_ENST00000490272.1_Intron|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480			12					GGGAGCCCTGGTCTGGTGAGA	0.443000																								0							SO:0001587	stop_gained			ENST00000595962.1	0	1	hg19	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172166	0.38315	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000335090	.	.	.	2.03	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5407	0.27737	0.0:0.0:1.0:0.0	.	.	.	.	X	108;86;9	.	ENSP00000335670:W9X	W	+	3	0	ZNF480	57510957	0.041000	0.20044	0.005000	0.12908	0.004000	0.04260	2.735000	0.47377	1.136000	0.42199	0.539000	0.68188	TGG		TCGA-IB-7651-01A-11D-2154-08	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	0	0	0	7	242	0	51	1	5.386757e-01	2	57	0	51	2		0	0	0	0	0	2	1	9.780362e-01	7	232	0	51	2								-8.623130	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.360000	0.150000	1.000000	0.330000	0.421991	0.360000	0	2.400000e-01	5.600000e-01
ZNF480	147657	broad.mit.edu	37	19	52825079	52825079	+	Missense_Mutation	SNP	A	A	C	rs149769756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825079A>C	ENST00000595962.1	+	5	642	c.576A>C	c.(574-576)caA>caC	p.Q192H	ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480			12					TTCTCCCACAAGAACAGAAAG	0.358000																								0							SO:0001583	missense			ENST00000595962.1	1	1	hg19	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247096	0.22796	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.28895	1.59;3.28;3.12	1.99	-2.69	0.06022	.	.	.	.	.	T	0.26484	0.0647	L	0.48218	1.51	0.09310	N	1	B;D	0.62365	0.191;0.991	B;P	0.49012	0.093;0.598	T	0.08889	-1.0700	9	0.45353	T	0.12	.	2.2863	0.04127	0.4394:0.0:0.3282:0.2324	.	149;192	F8WEZ9;Q8WV37	.;ZN480_HUMAN	H	192;149;115	ENSP00000417424:Q192H;ENSP00000334164:Q149H;ENSP00000335670:Q115H	ENSP00000334164:Q149H	Q	+	3	2	ZNF480	57516891	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.832000	0.04400	-1.193000	0.02688	-1.645000	0.00762	CAA		TCGA-IB-7651-01A-11D-2154-08	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	1	63	396	0	92	1	7.000214e-01	7	10	0	92	2		0	0	0	0	0	2	1	1	62	392	0	91	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZNF480	147657	broad.mit.edu	37	19	52825080	52825080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825080G>T	ENST00000595962.1	+	5	643	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480			12					TCTCCCACAAGAACAGAAAGT	0.363000																								0							SO:0001587	stop_gained			ENST00000595962.1	0	1	hg19	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649274	0.29336	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	1.99	-0.868	0.10652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.0554	0.09814	0.0:0.2636:0.468:0.2684	.	.	.	.	X	193;150;116	.	ENSP00000334164:E150X	E	+	1	0	ZNF480	57516892	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.292000	0.02772	-0.275000	0.09219	0.467000	0.42956	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	1	62	395	0	92	1	6.936601e-01	7	10	0	92	2		0	0	0	0	0	2	1	1	61	391	0	91	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ZNF480	147657	broad.mit.edu	37	19	52825103	52825103	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825103A>G	ENST00000595962.1	+	5	666	c.600A>G	c.(598-600)gaA>gaG	p.E200E	ZNF480_ENST00000334564.7_Silent_p.E157E|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Silent_p.E123E	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480			12					ACCTTAGAGAAAAACCTTATG	0.338000																								0							SO:0001819	synonymous_variant			ENST00000595962.1	1	1	hg19	CCDS12850.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	1	64	372	0	92	1	7.900693e-01	6	13	0	92	2		0	0	0	0	0	2	1	1	63	367	0	91	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF480	147657	broad.mit.edu	37	19	52825188	52825188	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825188A>C	ENST00000595962.1	+	5	751	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480			12					TACTGTAGAGAAACCTTACAA	0.358000																								0							SO:0001583	missense			ENST00000595962.1	1	1	hg19	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852413	0.32699	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.27104	1.69;1.69;1.69	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43344	0.1243	M	0.88031	2.925	0.23542	N	0.997456	D;P	0.57257	0.979;0.638	P;B	0.51777	0.679;0.15	T	0.32214	-0.9915	9	0.87932	D	0	.	7.566	0.27879	1.0:0.0:0.0:0.0	.	186;229	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Q	229;186;152	ENSP00000417424:K229Q;ENSP00000334164:K186Q;ENSP00000335670:K152Q	ENSP00000334164:K186Q	K	+	1	0	ZNF480	57517000	0.333000	0.24731	0.044000	0.18714	0.055000	0.15305	2.755000	0.47540	0.894000	0.36317	0.383000	0.25322	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	1	65	279	0	57	0	8.764221e-01	1	17	0	57	2		0	0	0	0	0	2	1	1	65	274	0	57	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF480	147657	broad.mit.edu	37	19	52825413	52825413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825413C>T	ENST00000595962.1	+	5	976	c.910C>T	c.(910-912)Cga>Tga	p.R304*	ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480			12					TTACCTTGCACGACATCAAAG	0.348000																								0							SO:0001587	stop_gained			ENST00000595962.1	0	1	hg19	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749100	0.30955	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.34	-4.69	0.03299	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	6.7913	0.23701	0.2683:0.5136:0.218:0.0	.	.	.	.	X	304;261;227	.	ENSP00000334164:R261X	R	+	1	2	ZNF480	57517225	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.847000	0.00351	-1.043000	0.03258	-0.499000	0.04595	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	0	15	319	0	61	0	1.592162e-01	1	14	0	61	2		0	0	0	0	0	2	1	9.998596e-01	15	312	0	61	2								-4.395987	1	1	121412	16	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.550000	0.320000	1.000000	0.530000	0.592815	0.550000	0	4.200000e-01	7.500000e-01
ZNF880	400713	broad.mit.edu	37	19	52887625	52887625	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52887625A>G	ENST00000422689.2	+	4	807	c.792A>G	c.(790-792)ggA>ggG	p.G264G		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880			10					TACATACTGGAGAGAAACCTT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000422689.2	1	1	hg19	CCDS46164.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	1	0	1	37	132	0	50	0	9.918671e-01	0	29	0	50	2		0	0	0	0	0	2	1	1	37	128	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF528	84436	broad.mit.edu	37	19	52918959	52918959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52918959C>T	ENST00000360465.3	+	7	1280	c.854C>T	c.(853-855)gCa>gTa	p.A285V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528			39					TCAAAGCTTGCACAACATCAA	0.368000																								0							SO:0001583	missense			ENST00000360465.3	1	1	hg19	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	5.309	0.242377	0.10077	.	.	ENSG00000167555	ENST00000360465	T	0.36520	1.25	1.99	-3.97	0.04094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.21617	0.685	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.16070	-1.0415	9	0.26408	T	0.33	.	6.4275	0.21778	0.1437:0.564:0.0:0.2923	.	285	Q3MIS6	ZN528_HUMAN	V	285	ENSP00000353652:A285V	ENSP00000353652:A285V	A	+	2	0	ZNF528	57610771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.317000	0.02707	-1.826000	0.01205	-1.564000	0.00881	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	0	0	1	75	397	1	121	0	3.115686e-01	1	6	1	121	2		0	0	0	0	0	2	1	1	75	393	1	119	15								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF528	84436	broad.mit.edu	37	19	52919388	52919388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52919388G>A	ENST00000360465.3	+	7	1709	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528			39					ATACGACATCGAAAAACTCAT	0.398000																								0							SO:0001583	missense			ENST00000360465.3	1	1	hg19	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484420	0.01027	.	.	ENSG00000167555	ENST00000360465	T	0.36878	1.23	1.97	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	N	0.16066	0.365	0.09310	N	1	B	0.32573	0.376	B	0.16289	0.015	T	0.27673	-1.0067	9	0.02654	T	1	.	2.9264	0.05786	0.557:0.0:0.2562:0.1869	.	428	Q3MIS6	ZN528_HUMAN	Q	428	ENSP00000353652:R428Q	ENSP00000353652:R428Q	R	+	2	0	ZNF528	57611200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.143000	0.10296	-1.027000	0.03325	-1.087000	0.02190	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	1	0	1	61	313	0	62	0	4.499782e-01	0	9	0	62	2		0	0	0	0	0	2	1	1	61	308	0	61	2								-3.335702	1	1	121412	1	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF534	147658	broad.mit.edu	37	19	52941324	52941324	+	Missense_Mutation	SNP	G	G	A	rs151189562	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52941324G>A	ENST00000332323.6	+	4	711	c.650G>A	c.(649-651)cGt>cAt	p.R217H	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534			4					CTTACTAACCGTCAAGTAATC	0.388000																								0							SO:0001583	missense			ENST00000332323.6	1	1	hg19	CCDS46165.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.005	-2.209788	0.00292	6.38E-4	0.0	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.04551	3.6;3.6	1.63	0.516	0.17019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00552	0.0018	N	0.00005	-3.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45977	-0.9224	9	0.02654	T	1	.	3.1434	0.06463	0.5952:0.2428:0.162:0.0	.	204;217	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	217;204;216	ENSP00000327538:R217H;ENSP00000391358:R204H	ENSP00000327538:R217H	R	+	2	0	ZNF534	57633136	0.249000	0.23941	0.001000	0.08648	0.001000	0.01503	1.750000	0.38329	-0.089000	0.12484	-0.606000	0.04082	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	1	0	1	69	237	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	68	232	0	83	2								-20.000000	1	1	120884	5	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF534	147658	broad.mit.edu	37	19	52942497	52942497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52942497G>A	ENST00000332323.6	+	4	1884	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534			4					CACCTTGCGCGACATAGGAAA	0.418000																								0							SO:0001583	missense			ENST00000332323.6	0	1	hg19	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	g	3.181	-0.167843	0.06461	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.26223	1.75;1.75	1.72	-3.44	0.04796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.25144	0.715	0.09310	N	1	P;P	0.38250	0.571;0.624	B;B	0.17979	0.012;0.02	T	0.33189	-0.9878	9	0.12766	T	0.61	.	3.2751	0.06896	0.2522:0.0:0.3274:0.4205	.	595;608	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	Q	608;595;607	ENSP00000327538:R608Q;ENSP00000391358:R595Q	ENSP00000327538:R608Q	R	+	2	0	ZNF534	57634309	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-9.259000	0.00012	-0.948000	0.03668	0.405000	0.27470	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	0	0	0	9	38	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.928840e-01	8	34	0	17	2								-18.142490	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997546	0.990000	1	9.900000e-01	1
ZNF578	147660	broad.mit.edu	37	19	53005079	53005079	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53005079G>T	ENST00000421239.2	+	4	225		c.e4-1			NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578								TCCACATACAGGATTGATTTC	0.438000																								0							SO:0001630	splice_region_variant			ENST00000421239.2	1	1	hg19	CCDS54310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	1	0	0	76	317	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	76	314	0	89	2								-2.905428	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF578	147660	broad.mit.edu	37	19	53014089	53014089	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53014089T>G	ENST00000421239.2	+	6	699	c.455T>G	c.(454-456)aTt>aGt	p.I152S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578								AACAAGCCTATTAAAGATCAG	0.408000																								0							SO:0001583	missense			ENST00000421239.2	1	1	hg19	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	12.89	2.074217	0.36566	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	T	0.30823	0.0777	L	0.41415	1.275	0.09310	N	1	P	0.52061	0.95	P	0.46718	0.525	T	0.11060	-1.0603	7	.	.	.	.	6.038	0.19718	0.0:0.0:0.0:1.0	.	152	G3V4F6	.	S	152	.	.	I	+	2	0	ZNF578	57705901	0.000000	0.05858	0.019000	0.16419	0.195000	0.23768	0.305000	0.19254	0.574000	0.29417	0.113000	0.15668	ATT		TCGA-IB-7651-01A-11D-2154-08	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	0	0	1	154	727	0	228	0	0	0	1	0	228	2		0	0	0	0	0	2	1	1	152	706	0	223	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF808	388558	broad.mit.edu	37	19	53056883	53056883	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53056883A>C	ENST00000359798.4	+	5	894	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808			24					AGAGTGGCAAAGCCTTTAATT	0.373000																								0							SO:0001583	missense			ENST00000359798.4	1	1	hg19	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.11	1.839190	0.32513	.	.	ENSG00000198482	ENST00000359798	T	0.22134	1.97	1.57	-2.54	0.06307	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47078	0.1426	M	0.92367	3.3	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.33803	-0.9854	9	0.66056	D	0.02	.	7.1187	0.25431	0.5911:0.0:0.4089:0.0	.	238	Q8N4W9	ZN808_HUMAN	N	238	ENSP00000352846:K238N	ENSP00000352846:K238N	K	+	3	2	ZNF808	57748695	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.148000	0.16224	-0.600000	0.05790	0.254000	0.18369	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	0	0	0	35	889	0	225	0	1.428595e-02	0	5	0	225	2		0	0	0	0	0	2	1	1	33	863	0	233	2								-4.365501	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.450000	0.310000	1.000000	0.440000	0.502715	0.450000	0	3.800000e-01	5.600000e-01
ZNF808	388558	broad.mit.edu	37	19	53057635	53057635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53057635G>A	ENST00000359798.4	+	5	1646	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808			24					AATGAGTGTCGCAAGACCTTC	0.433000																								0							SO:0001583	missense			ENST00000359798.4	1	1	hg19	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	6.792	0.515038	0.12944	.	.	ENSG00000198482	ENST00000359798	T	0.14893	2.47	1.5	0.355	0.16069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	9	0.72032	D	0.01	.	6.9106	0.24333	0.1648:0.0:0.8352:0.0	.	489	Q8N4W9	ZN808_HUMAN	H	489	ENSP00000352846:R489H	ENSP00000352846:R489H	R	+	2	0	ZNF808	57749447	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.455000	0.06762	-0.020000	0.14032	-1.098000	0.02139	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	1	0	0	42	539	0	134	0	1.652190e-01	0	10	0	134	2		0	0	0	0	0	2	1	1	42	532	0	132	2								-9.633039	1	1	121408	2	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.870000	0.630000	1.000000	1.000000	0.868464	0.870000	1	7.400000e-01	1
ZNF808	388558	broad.mit.edu	37	19	53058088	53058088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53058088G>A	ENST00000359798.4	+	5	2099	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808			24					CAGCTGGCACGACATACAAGA	0.408000																								0							SO:0001583	missense			ENST00000359798.4	1	1	hg19	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.680	-0.798472	0.02841	.	.	ENSG00000198482	ENST00000359798	T	0.07216	3.21	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.25201	0.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45702	-0.9243	9	0.12430	T	0.62	.	3.3187	0.07043	0.2243:0.0:0.2726:0.503	.	640	Q8N4W9	ZN808_HUMAN	Q	640	ENSP00000352846:R640Q	ENSP00000352846:R640Q	R	+	2	0	ZNF808	57749900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.414000	0.00021	-1.761000	0.01310	-0.752000	0.03492	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	1	0	1	82	312	0	83	0	7.456881e-01	1	11	0	83	2		0	0	0	0	0	2	1	1	81	304	0	83	2								-3.805253	1	1	121400	3	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF701	55762	broad.mit.edu	37	19	53085712	53085712	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53085712A>G	ENST00000540331.1	+	5	823	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701			14					TGCTGGAAACAAACCTATTAA	0.408000													NSCLC(89;451 1475 9611 20673 52284)											0							SO:0001583	missense			ENST00000540331.1	1	1	hg19	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964412	0.34659	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05081	3.5;3.52;3.52	1.81	0.721	0.18219	.	.	.	.	.	T	0.24624	0.0597	M	0.91717	3.235	0.09310	N	1	P;D	0.63880	0.828;0.993	B;D	0.70935	0.44;0.971	T	0.07908	-1.0748	9	0.87932	D	0	.	3.7202	0.08453	0.7809:0.0:0.2191:0.0	.	200;134	F5GZM6;Q9NV72	.;ZN701_HUMAN	E	134;200;200	ENSP00000375662:K134E;ENSP00000301093:K200E;ENSP00000444339:K200E	ENSP00000301093:K200E	K	+	1	0	ZNF701	57777524	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	2.404000	0.44539	-0.003000	0.14444	0.254000	0.18369	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	0	0	0	36	754	0	183	0	2.942365e-02	0	6	0	183	2		0	0	0	0	0	2	1	1	36	742	0	183	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.550000	0.380000	1.000000	0.540000	0.587349	0.550000	0	4.600000e-01	6.800000e-01
ZNF701	55762	broad.mit.edu	37	19	53086312	53086312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086312G>A	ENST00000540331.1	+	5	1423	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I	ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701			14					ATGTGACAAAGTTTTCAGTCG	0.378000													NSCLC(89;451 1475 9611 20673 52284)											0							SO:0001583	missense			ENST00000540331.1	1	1	hg19	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562911	0.27915	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.01015	5.44;5.44;5.44	1.87	0.685	0.18009	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	L	0.41961	1.31	0.09310	N	1	P;D	0.63046	0.881;0.992	B;D	0.77004	0.406;0.989	T	0.50065	-0.8871	9	0.72032	D	0.01	.	2.9813	0.05954	0.1571:0.0:0.3677:0.4751	.	400;334	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	334;400;400	ENSP00000375662:V334I;ENSP00000301093:V400I;ENSP00000444339:V400I	ENSP00000301093:V400I	V	+	1	0	ZNF701	57778124	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.156000	0.01283	0.091000	0.17302	0.400000	0.26472	GTT		TCGA-IB-7651-01A-11D-2154-08	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	1	0	1	80	506	0	126	0	2.497962e-01	0	7	0	126	2		0	0	0	0	0	2	1	1	80	500	0	126	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF701	55762	broad.mit.edu	37	19	53086349	53086349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086349G>T	ENST00000540331.1	+	5	1460	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701			14					AGACATAGGAGAATTCACACT	0.408000													NSCLC(89;451 1475 9611 20673 52284)											0							SO:0001583	missense			ENST00000540331.1	1	1	hg19	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382750	0.25031	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.24908	1.83;1.83;1.83	1.87	-2.88	0.05682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35480	0.0933	M	0.81341	2.54	0.09310	N	1	P;D	0.60575	0.619;0.988	B;P	0.56514	0.094;0.8	T	0.25537	-1.0129	9	0.45353	T	0.12	.	0.9989	0.01473	0.2602:0.1741:0.3898:0.1759	.	412;346	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	346;412;412	ENSP00000375662:R346I;ENSP00000301093:R412I;ENSP00000444339:R412I	ENSP00000301093:R412I	R	+	2	0	ZNF701	57778161	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-4.934000	0.00168	-0.245000	0.09625	-0.530000	0.04314	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	1	0	1	125	531	0	134	0	9.639539e-02	0	3	0	134	2		0	0	0	0	0	2	1	1	122	522	0	134	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF83	55769	broad.mit.edu	37	19	53117594	53117594	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53117594A>C	ENST00000597597.1	-	2	2477	c.224T>G	c.(223-225)tTt>tGt	p.F75C	ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C|ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C			P51522	ZNF83_HUMAN	zinc finger protein 83			18					TGAATCCACAAAATTACATTC	0.373000																								0							SO:0001583	missense			ENST00000597597.1	1	1	hg19	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	a	12.24	1.877900	0.33162	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09163	3.03;3.03;3.03;3.03;3.03;3.01	2.43	2.43	0.29744	.	.	.	.	.	T	0.34019	0.0883	M	0.88377	2.95	0.09310	N	1	D;D	0.89917	0.998;1.0	P;D	0.83275	0.889;0.996	T	0.06463	-1.0825	9	0.36615	T	0.2	.	8.3566	0.32333	1.0:0.0:0.0:0.0	.	75;75	P51522-2;P51522	.;ZNF83_HUMAN	C	75	ENSP00000445993:F75C;ENSP00000301096:F75C;ENSP00000445470:F75C;ENSP00000440713:F75C;ENSP00000439681:F75C;ENSP00000375666:F75C	ENSP00000301096:F75C	F	-	2	0	ZNF83	57809406	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	1.334000	0.33827	1.099000	0.41499	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	1	0	1	58	222	0	71	1	9.914810e-01	8	23	0	71	2		0	0	0	0	0	2	1	1	56	216	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF611	81856	broad.mit.edu	37	19	53208551	53208551	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53208551C>A	ENST00000319783.1	-	7	2073	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	ZNF611_ENST00000543227.1_Missense_Mutation_p.R586I|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I|ZNF611_ENST00000602162.1_Missense_Mutation_p.R517I	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611			36					ACTATGAACTCTATGATGGCA	0.438000																								0							SO:0001583	missense			ENST00000319783.1	1	1	hg19	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788816	0.31685	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	1.58	0.308	0.15815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	L	0.58810	1.83	0.09310	N	1	P	0.37612	0.602	B	0.37239	0.244	T	0.16276	-1.0408	9	0.59425	D	0.04	.	4.7739	0.13169	0.2223:0.3359:0.4418:0.0	.	586	Q8N823	ZN611_HUMAN	I	586;586;517;586	ENSP00000437616:R586I;ENSP00000439211:R586I;ENSP00000443505:R517I;ENSP00000322427:R586I	ENSP00000322427:R586I	R	-	2	0	ZNF611	57900363	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.834000	0.04391	-0.045000	0.13468	0.313000	0.20887	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	1	0	1	243	1117	0	274	1	6.109109e-01	5	6	0	274	2		0	0	0	0	0	2	1	1	236	1095	0	273	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF600	162966	broad.mit.edu	37	19	53270299	53270299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53270299C>T	ENST00000338230.3	-	3	977	c.710G>A	c.(709-711)cGt>cAt	p.R237H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600			30					GTGAAGTCTACGATGGCATGT	0.408000													Esophageal Squamous(196;1235 2112 2375 33339 34207)											0							SO:0001583	missense			ENST00000338230.3	1	1	hg19	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	7.585	0.669634	0.14776	.	.	ENSG00000189190	ENST00000338230	T	0.07688	3.17	1.62	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	L	0.33339	1.005	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.41233	-0.9520	9	0.40728	T	0.16	.	0.5747	0.00701	0.1747:0.2268:0.1752:0.4233	.	237	Q6ZNG1	ZN600_HUMAN	H	237	ENSP00000344791:R237H	ENSP00000344791:R237H	R	-	2	0	ZNF600	57962111	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.889000	0.04144	-1.180000	0.02734	0.313000	0.20887	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	1	0	1	175	702	0	204	1	9.585630e-01	7	16	0	204	2		0	0	0	0	0	2	1	1	172	693	0	202	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF28	7576	broad.mit.edu	37	19	53304225	53304225	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304225C>T	ENST00000457749.2	-	4	992	c.873G>A	c.(871-873)gcG>gcA	p.A291A	ZNF28_ENST00000414252.2_Silent_p.A238A|ZNF28_ENST00000360272.4_Silent_p.A238A|ZNF28_ENST00000438150.2_Silent_p.A238A	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28			34					CAGTATGAAGCGCCTTGTGAA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000457749.2	1	1	hg19	CCDS33093.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	1	0	1	117	506	0	135	1	9.929508e-01	13	22	0	135	2		0	0	0	0	0	2	1	1	116	495	0	135	2								-20.000000	1	0	121412	2	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF28	7576	broad.mit.edu	37	19	53304313	53304313	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304313C>T	ENST00000457749.2	-	4	904	c.785G>A	c.(784-786)cGt>cAt	p.R262H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R209H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28			34					GTGAGATCTACGATGGCATGC	0.383000																								0							SO:0001583	missense			ENST00000457749.2	1	1	hg19	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	7.070	0.568038	0.13560	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18502	2.42;2.42;2.42;2.42;2.21	1.37	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	L	0.43554	1.36	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.27123	-1.0083	9	0.44086	T	0.13	.	5.9021	0.18972	0.0:0.2984:0.0:0.7016	.	262	P17035	ZNF28_HUMAN	H	209;262;209;209;209	ENSP00000412143:R209H;ENSP00000397693:R262H;ENSP00000353410:R209H;ENSP00000444965:R209H;ENSP00000375661:R209H	ENSP00000353410:R209H	R	-	2	0	ZNF28	57996125	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.473000	0.06615	-0.965000	0.03591	-0.708000	0.03648	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	1	0	1	98	429	0	142	1	9.819192e-01	5	25	0	142	2		0	0	0	0	0	2	1	1	96	416	0	142	2								-20.000000	1	0	121412	3	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF320	162967	broad.mit.edu	37	19	53385152	53385152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53385152C>T	ENST00000595635.1	-	8	728	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320			24					ACTTGCTTGTCTCTGCAATGT	0.383000																								0							SO:0001583	missense			ENST00000595635.1	1	1	hg19	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	8.622	0.891653	0.17613	.	.	ENSG00000182986	ENST00000391781	T	0.06528	3.29	1.18	1.18	0.20946	Krueppel-associated box (1);	.	.	.	.	T	0.04815	0.0130	L	0.50333	1.59	0.09310	N	1	P	0.40476	0.718	B	0.28385	0.089	T	0.37596	-0.9699	9	0.34782	T	0.22	.	5.7807	0.18304	0.0:1.0:0.0:0.0	.	76	A2RRD8	ZN320_HUMAN	K	76	ENSP00000375660:R76K	ENSP00000375660:R76K	R	-	2	0	ZNF320	58076964	0.000000	0.05858	0.009000	0.14445	0.041000	0.13682	-0.289000	0.08365	0.955000	0.37878	0.184000	0.17185	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	1	0	1	194	755	0	195	1	9.746757e-01	9	16	0	195	2		0	0	0	0	0	2	1	1	192	743	0	195	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF160	90338	broad.mit.edu	37	19	53572121	53572121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53572121G>A	ENST00000429604.1	-	7	2081	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W|ZNF160_ENST00000601421.1_Missense_Mutation_p.R520W|ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160			35					TGAATTCCCCGATGACTTCTA	0.413000																								0							SO:0001583	missense			ENST00000429604.1	1	0	hg19	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098400	0.37048	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07688	3.17;3.17	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	L	0.61036	1.89	0.33412	D	0.578734	P	0.35307	0.494	B	0.30401	0.115	T	0.17653	-1.0362	9	0.87932	D	0	.	11.4708	0.50268	0.0:0.0:1.0:0.0	.	556	Q9HCG1	ZN160_HUMAN	W	556	ENSP00000406201:R556W;ENSP00000409597:R556W	ENSP00000409597:R556W	R	-	1	2	ZNF160	58263933	0.000000	0.05858	0.031000	0.17742	0.021000	0.10359	-1.606000	0.02072	1.221000	0.43506	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	1	0	1	98	443	0	109	1	9.999132e-01	13	50	0	109	2		0	0	0	0	0	2	1	1	98	433	0	108	2								-3.085034	1	1	121412	2	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC34	997	broad.mit.edu	37	19	535886	535886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34			2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CCAGCCTTTCGGTTCCTGACC	0.647000																								0							SO:0001583	missense			ENST00000215574.4	1	1	hg19	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870932	0.51695	0.0	1.16E-4	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.45698	1.435	0.80722	D	1	P	0.43909	0.821	B	0.29785	0.107	T	0.23404	-1.0189	10	0.51188	T	0.08	-23.2597	17.6415	0.88138	0.0:0.0:1.0:0.0	.	76	P49427	UB2R1_HUMAN	Q	76	ENSP00000215574:R76Q	ENSP00000215574:R76Q	R	+	2	0	CDC34	486886	1.000000	0.71417	0.190000	0.23270	0.165000	0.22458	7.729000	0.84864	2.388000	0.81334	0.603000	0.83216	CGG		TCGA-IB-7651-01A-11D-2154-08	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	1	0	1	424	1748	1	458	1	1	139	237	1	458	5		0	0	0	0	0	2	1	1	415	1720	1	453	17								-2.842424	1	1	121412	6	43	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF415	55786	broad.mit.edu	37	19	53612015	53612015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612015G>A	ENST00000500065.4	-	4	1616	c.1283C>T	c.(1282-1284)gCg>gTg	p.A428V	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000455735.2_Missense_Mutation_p.A476V|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415			31					CCGATGACTCGCAAGGTGTGA	0.423000																								0							SO:0001583	missense			ENST00000500065.4	1	1	hg19	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	3.941	-0.014304	0.07681	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	2.77	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.11201	0.11	0.09310	N	1	B;P;P;B;P;P	0.51147	0.339;0.719;0.565;0.339;0.51;0.942	B;B;B;B;B;B	0.32393	0.008;0.094;0.019;0.008;0.015;0.145	T	0.42344	-0.9457	9	0.30078	T	0.28	.	3.1834	0.06592	0.3435:0.0:0.4691:0.1874	.	428;476;476;428;415;440	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	V	428;428;476;440;476;415	ENSP00000243643:A428V;ENSP00000439435:A428V;ENSP00000396492:A476V;ENSP00000395055:A440V;ENSP00000388787:A476V;ENSP00000414601:A415V	ENSP00000243643:A428V	A	-	2	0	ZNF415	58303827	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.307000	0.08167	-0.224000	0.09928	-0.350000	0.07774	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	1	0	1	116	471	0	117	0	4.190941e-01	0	7	0	117	2		0	0	0	0	0	2	1	1	116	461	0	113	2								-20.000000	1	0	121412	6	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF415	55786	broad.mit.edu	37	19	53612071	53612071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612071C>T	ENST00000500065.4	-	4	1560	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000421033.1_Silent_p.E421E|ZNF415_ENST00000448501.1_Silent_p.E457E|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000455735.2_Silent_p.E457E|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415			31					TGTAAGGTTTCTCTCCAGTAT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000500065.4	1	1	hg19	CCDS54313.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	1	0	0	68	266	0	62	0	2.742646e-01	0	5	0	62	2		0	0	0	0	0	2	1	1	68	265	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF347	84671	broad.mit.edu	37	19	53645099	53645099	+	Nonsense_Mutation	SNP	G	G	A	rs146144984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645099G>A	ENST00000334197.7	-	5	1050	c.982C>T	c.(982-984)Cga>Tga	p.R328*	ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Nonsense_Mutation_p.R329*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347			23					TGTGAATTTCGACTAAAGACC	0.398000													Melanoma(64;205 1597 17324 45721)											0							SO:0001587	stop_gained			ENST00000334197.7	0	1	hg19	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997065	0.54147	2.27E-4	0.0	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	.	.	.	2.65	-5.29	0.02747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.5002	0.04631	0.102:0.1464:0.3053:0.4463	.	.	.	.	X	328;329;2	.	ENSP00000334146:R328X	R	-	1	2	ZNF347	58336911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.256000	0.01181	-1.398000	0.02066	-0.428000	0.05917	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	1	0	1	125	474	0	114	1	8.194902e-01	3	11	0	114	2		0	0	0	0	0	2	1	1	123	466	0	114	2								-3.767156	1	0	121412	2	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF347	84671	broad.mit.edu	37	19	53645126	53645126	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645126A>G	ENST00000334197.7	-	5	1023	c.955T>C	c.(955-957)Tgt>Cgt	p.C319R	ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.C320R	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347			23					CACTCATTACATTTGTAACGT	0.383000													Melanoma(64;205 1597 17324 45721)											0							SO:0001583	missense			ENST00000334197.7	1	1	hg19	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696074	0.48202	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85258	-1.96;-1.96	2.85	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94565	0.8249	H	0.98525	4.255	0.37637	D	0.921891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94998	0.8140	9	0.72032	D	0.01	.	9.1425	0.36912	1.0:0.0:0.0:0.0	.	320;319	G5E9N4;Q96SE7	.;ZN347_HUMAN	R	319;320	ENSP00000334146:C319R;ENSP00000405218:C320R	ENSP00000334146:C319R	C	-	1	0	ZNF347	58336938	0.623000	0.27094	0.005000	0.12908	0.003000	0.03518	4.785000	0.62418	1.326000	0.45319	0.533000	0.62120	TGT		TCGA-IB-7651-01A-11D-2154-08	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	1	0	1	68	601	0	141	0	3.139668e-01	0	11	0	141	2		0	0	0	0	0	2	1	1	66	587	0	139	2								-19.899540	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.950000	1.000000	1.000000	0.997349	0.990000	1	9.900000e-01	1
ZNF347	84671	broad.mit.edu	37	19	53652554	53652554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53652554C>T	ENST00000334197.7	-	3	150	c.82G>A	c.(82-84)Gct>Act	p.A28T	ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.A28T	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347			23					GTCCTCTGAGCGGGGTCCAGG	0.507000													Melanoma(64;205 1597 17324 45721)											0							SO:0001583	missense			ENST00000334197.7	1	1	hg19	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	4.206	0.037002	0.08148	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02236	4.38;4.38	2.38	1.15	0.20763	Krueppel-associated box (4);	.	.	.	.	T	0.02119	0.0066	M	0.63428	1.95	0.09310	N	1	B;P	0.41420	0.366;0.749	B;B	0.27715	0.013;0.082	T	0.45498	-0.9257	9	0.36615	T	0.2	.	4.2304	0.10601	0.2576:0.4897:0.2527:0.0	.	28;28	G5E9N4;Q96SE7	.;ZN347_HUMAN	T	28	ENSP00000334146:A28T;ENSP00000405218:A28T	ENSP00000334146:A28T	A	-	1	0	ZNF347	58344366	0.000000	0.05858	0.115000	0.21578	0.131000	0.20780	-0.229000	0.09098	1.337000	0.45525	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	1	0	1	128	539	1	144	0	5.388183e-01	1	8	1	144	2		0	0	0	0	0	2	1	1	127	526	0	144	2								-3.385251	1	1	121412	6	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF665	79788	broad.mit.edu	37	19	53667726	53667726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53667726G>A	ENST00000600412.1	-	2	1937	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665			35					TGAATTCTTCGATGTTTTGCA	0.488000																								0							SO:0001587	stop_gained			ENST00000600412.1	0	1	hg19		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.902202	0.92035	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.23	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.22601	N	0.998943	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.6878	0.28550	0.1416:0.0:0.8584:0.0	.	.	.	.	X	673	.	ENSP00000379702:R673X	R	-	1	2	ZNF665	58359538	0.000000	0.05858	0.005000	0.12908	0.045000	0.14185	-0.524000	0.06222	0.262000	0.21774	0.543000	0.68304	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	1	0	1	18	134	0	23	0	0	1	0	0	23	2		0	0	0	0	0	2	1	9.999841e-01	18	130	0	23	2								-2.843868	1	1	121276	4	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.880000	1.000000	1.000000	0.993117	0.990000	1	9.900000e-01	1
ZNF665	79788	broad.mit.edu	37	19	53668078	53668078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668078C>T	ENST00000600412.1	-	2	1585	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	ZNF665_ENST00000396424.3_Silent_p.S555S|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665			35					TTGCAAGGTACGAATTGTGTC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000600412.1	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	1	0	1	110	472	0	107	0	3.945584e-01	0	7	0	107	2		0	0	0	0	0	2	1	1	110	465	0	107	2								-20.000000	1	1	121406	5	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF665	79788	broad.mit.edu	37	19	53668976	53668976	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668976T>C	ENST00000600412.1	-	2	687	c.572A>G	c.(571-573)cAt>cGt	p.H191R	ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665			35					CTCTCCAGTATGAATTCTCTG	0.398000																								0							SO:0001583	missense			ENST00000600412.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.53	2.860023	0.51482	.	.	ENSG00000197497	ENST00000396424	T	0.67523	-0.27	2.44	0.146	0.14833	.	.	.	.	.	D	0.82351	0.5018	M	0.92122	3.275	0.23095	N	0.998303	D	0.89917	1.0	D	0.91635	0.999	T	0.69176	-0.5214	9	0.87932	D	0	.	6.2248	0.20701	0.0:0.2501:0.0:0.7499	.	256	Q9H7R5-2	.	R	256	ENSP00000379702:H256R	ENSP00000379702:H256R	H	-	2	0	ZNF665	58360788	0.998000	0.40836	0.000000	0.03702	0.372000	0.29890	4.080000	0.57620	-0.172000	0.10779	0.443000	0.29094	CAT		TCGA-IB-7651-01A-11D-2154-08	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	1	0	0	26	626	0	127	0	1.764829e-03	0	2	0	127	2		0	0	0	0	0	2	1	9.999999e-01	26	619	0	127	2								-19.999930	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.480000	0.310000	1.000000	0.470000	0.527894	0.480000	0	3.900000e-01	6.200000e-01
ZNF665	79788	broad.mit.edu	37	19	53669537	53669537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53669537G>A	ENST00000600412.1	-	2	126	c.11C>T	c.(10-12)gCg>gTg	p.A4V	ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665			35					CGTGTAGAACGCTTCTCCCAT	0.408000																								0							SO:0001583	missense			ENST00000600412.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	0.415	-0.911452	0.02434	.	.	ENSG00000197497	ENST00000396424	T	0.05081	3.5	1.85	0.809	0.18725	.	.	.	.	.	T	0.01695	0.0054	N	0.00841	-1.15	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.48525	-0.9028	9	0.11794	T	0.64	.	5.9136	0.19041	0.8463:0.0:0.1537:0.0	.	69	Q9H7R5-2	.	V	69	ENSP00000379702:A69V	ENSP00000379702:A69V	A	-	2	0	ZNF665	58361349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	0.189000	0.20188	-0.436000	0.05848	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	1	0	0	95	1073	0	246		0	0	0	0	246	2		0	0	0	0	0	2	1	1	95	1062	0	244	2								-19.780840	1	1	120912	1	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.970000	0.780000	1.000000	1.000000	0.949147	0.970000	1	8.700000e-01	1
ZNF677	342926	broad.mit.edu	37	19	53741428	53741428	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741428C>T	ENST00000598513.1	-	5	702	c.552G>A	c.(550-552)gtG>gtA	p.V184V	ZNF677_ENST00000333952.4_Silent_p.V184V|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677			36					CAAAACACTTCACGTATTTGT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000598513.1	1	1	hg19	CCDS12861.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	0	0	0	10	313	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.966451e-01	10	306	0	59	2								-10.600200	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.390000	0.190000	1.000000	0.360000	0.444688	0.390000	0	2.800000e-01	5.600000e-01
ZNF677	342926	broad.mit.edu	37	19	53747046	53747046	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53747046G>A	ENST00000598513.1	-	4	270	c.120C>T	c.(118-120)aaC>aaT	p.N40N	ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000333952.4_Silent_p.N40N|ZNF677_ENST00000601828.1_Silent_p.N40N|ZNF677_ENST00000601413.1_Silent_p.N40N|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677			36					GGTTCCTGTAGTTCTCCAACA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000598513.1	1	1	hg19	CCDS12861.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	1	0	0	91	387	0	109	0	7.370674e-01	0	13	0	109	2		0	0	0	0	0	2	1	1	91	381	1	108	16								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VN1R2	317701	broad.mit.edu	37	19	53762196	53762196	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762196A>G	ENST00000341702.3	+	1	652	c.568A>G	c.(568-570)Acc>Gcc	p.T190A		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	p.T190S(1)		31					CCAGGTGATCACCATCAACCC	0.488000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000341702.3	1	1	hg19	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	8.622	0.891570	0.17613	.	.	ENSG00000196131	ENST00000341702	T	0.24723	1.84	2.94	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46870	0.1415	M	0.89478	3.035	0.09310	N	1	D	0.55605	0.972	P	0.60609	0.877	T	0.34179	-0.9839	9	0.72032	D	0.01	.	3.328	0.07074	0.6274:0.2408:0.1318:0.0	.	190	Q8NFZ6	VN1R2_HUMAN	A	190	ENSP00000351244:T190A	ENSP00000351244:T190A	T	+	1	0	VN1R2	58454008	0.001000	0.12720	0.022000	0.16811	0.022000	0.10575	0.059000	0.14322	0.560000	0.29169	0.486000	0.48141	ACC		TCGA-IB-7651-01A-11D-2154-08	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	1	0	1	47	214	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	47	209	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VN1R2	317701	broad.mit.edu	37	19	53762652	53762652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762652G>A	ENST00000341702.3	+	1	1108	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2			31					AGCTCTCTTCGATAATTCCAG	0.463000																								0							SO:0001583	missense			ENST00000341702.3	1	1	hg19	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933902	0.18206	2.27E-4	0.0	ENSG00000196131	ENST00000341702	T	0.37058	1.22	2.79	-0.988	0.10245	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14313	0.0346	N	0.12637	0.245	0.09310	N	1	P	0.37663	0.604	B	0.34452	0.183	T	0.18147	-1.0346	9	0.16420	T	0.52	.	3.4714	0.07569	0.1348:0.0:0.4225:0.4427	.	342	Q8NFZ6	VN1R2_HUMAN	N	342	ENSP00000351244:D342N	ENSP00000351244:D342N	D	+	1	0	VN1R2	58454464	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-2.130000	0.01312	-0.080000	0.12685	0.590000	0.80494	GAT		TCGA-IB-7651-01A-11D-2154-08	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	1	0	1	208	868	0	205		0	0	0	0	205	2		0	0	0	0	0	2	1	1	203	854	0	205	2								-20.000000	1	1	121412	6	43	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BIRC8	112401	broad.mit.edu	37	19	53793138	53793138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53793138C>A	ENST00000426466.1	-	1	1737	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8			19					TGATTCAATTCATTTTCTGTA	0.418000																								0							SO:0001587	stop_gained			ENST00000426466.1	0	1	hg19	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	43	10.294075	0.99377	.	.	ENSG00000163098	ENST00000426466	.	.	.	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-7.5152	6.9506	0.24542	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	164	.	ENSP00000412957:E164X	E	-	1	0	BIRC8	58484950	0.163000	0.22920	0.023000	0.16930	0.013000	0.08279	1.173000	0.31920	0.578000	0.29487	0.420000	0.28162	GAA		TCGA-IB-7651-01A-11D-2154-08	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	1	0	0	87	405	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	85	397	0	84	2								-3.190601	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF765	91661	broad.mit.edu	37	19	53912333	53912333	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53912333C>A	ENST00000396408.3	+	4	1642	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765			4					CAAATCAAACCTTGAAAGACA	0.408000																								0							SO:0001583	missense			ENST00000396408.3	1	1	hg19	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	11.43	1.636833	0.29068	.	.	ENSG00000196417	ENST00000396408	T	0.41065	1.01	1.27	-0.14	0.13456	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65281	0.2676	M	0.92880	3.355	0.09310	N	1	B	0.33940	0.433	P	0.54210	0.745	T	0.62558	-0.6829	8	.	.	.	.	6.239	0.20778	0.0:0.6819:0.3181:0.0	.	509	Q7L2R6	ZN765_HUMAN	I	509	ENSP00000379689:L509I	.	L	+	1	0	ZNF765	58604145	0.007000	0.16637	0.000000	0.03702	0.031000	0.12232	0.205000	0.17356	-0.241000	0.09681	0.297000	0.19635	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	0	0	1	47	193	1	60	0	6.670442e-01	1	10	1	60	2		0	0	0	0	0	2	1	9.999985e-01	46	189	1	60	14								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF761	388561	broad.mit.edu	37	19	53959326	53959326	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53959326A>G	ENST00000454407.1	+	0	2018							Q86XN6	ZN761_HUMAN	zinc finger protein 761			30					GAGAAAGCTTACAAGTGTAAT	0.438000																								0											ENST00000454407.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	116	474	1	133	1	9.563220e-01	5	26	1	133	3		0	0	0	0	0	2	1	1	112	466	1	131	16								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF813	126017	broad.mit.edu	37	19	53994876	53994876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53994876G>A	ENST00000396403.4	+	4	1518	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813			1					TCATATTGGAGAGAAACGTTA	0.413000																								0							SO:0001583	missense			ENST00000396403.4	1	1	hg19	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.099648	0.56183	.	.	ENSG00000198346	ENST00000396403	T	0.24350	1.86	1.32	-9.08E-4	0.14036	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33876	0.0878	L	0.47716	1.5	0.80722	D	1	D	0.54772	0.968	P	0.61592	0.891	T	0.18967	-1.0320	9	0.72032	D	0.01	.	6.6592	0.23004	0.1881:0.0:0.8119:0.0	.	464	Q6ZN06	ZN813_HUMAN	K	464	ENSP00000379684:E464K	ENSP00000379684:E464K	E	+	1	0	ZNF813	58686688	0.987000	0.35691	0.201000	0.23476	0.035000	0.12851	3.279000	0.51670	0.461000	0.27071	0.197000	0.17608	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	1	0	1	55	283	0	73	0	2.591120e-01	1	5	0	73	2		0	0	0	0	0	2	1	1	55	279	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF331	55422	broad.mit.edu	37	19	54074947	54074947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54074947C>T	ENST00000253144.9	+	6	1432	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D|ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331			10					TGTACTGGGACGTGATGCTGG	0.522000			T	?	follicular thyroid adenoma										Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0							SO:0001819	synonymous_variant			ENST00000253144.9	1	1	hg19	CCDS33102.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	1	0	1	204	920	0	223	0	9.997782e-01	0	56	0	223	2		0	0	0	0	0	2	1	1	200	907	0	221	2								-20.000000	1	1	121412	4	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF331	55422	broad.mit.edu	37	19	54080543	54080543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54080543C>T	ENST00000253144.9	+	7	2062	c.729C>T	c.(727-729)taC>taT	p.Y243Y	ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000513999.1_Silent_p.Y243Y|ZNF331_ENST00000511593.2_Silent_p.Y243Y|ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331			10					AGAAAGACTACGAATGCAAAG	0.463000			T	?	follicular thyroid adenoma										Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0							SO:0001819	synonymous_variant			ENST00000253144.9	1	1	hg19	CCDS33102.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	1	0	1	99	354	0	91	1	9.998899e-01	10	40	0	91	2		0	0	0	0	0	2	1	1	97	347	0	90	2								-20.000000	1	1	121412	2	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPRX	503834	broad.mit.edu	37	19	54137909	54137909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54137909G>A	ENST00000376650.1	+	2	204	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox			12	Ovarian(34;0.19)				AAATGGCCTCGAAAATAGACA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000376650.1	1	1	hg19	CCDS33103.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	1	0	1	57	355	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	54	346	0	106	2								-2.966897	1	1	121412	3	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
CDC34	997	broad.mit.edu	37	19	541501	541501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:541501C>T	ENST00000215574.4	+	5	878	c.660C>T	c.(658-660)gcC>gcT	p.A220A	GZMM_ENST00000264553.3_5'Flank	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34			2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			AGGAGGAGGCCGACAGCTGCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000215574.4	1	1	hg19	CCDS12030.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	0	0	0	12	305	0	46	1	9.978559e-01	17	253	0	46	2		0	0	0	0	0	2	1	9.990939e-01	12	301	0	46	2								-2.919336	1	1	121338	1	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.250000	1.000000	0.440000	0.518770	0.470000	0	3.500000e-01	6.600000e-01
NLRP12	91662	broad.mit.edu	37	19	54308655	54308655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54308655C>T	ENST00000324134.6	-	5	2461	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12			80	Ovarian(34;0.19)				GCTATGAGAGCTGCAGAGAGG	0.547000																								0							SO:0001583	missense			ENST00000324134.6	1	1	hg19	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900593	0.52227	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	3.32	3.32	0.38043	.	.	.	.	.	T	0.64227	0.2579	L	0.48986	1.54	0.19575	N	0.999967	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.939;0.997;0.998;0.999	T	0.50516	-0.8819	9	0.44086	T	0.13	.	10.3841	0.44129	0.0:1.0:0.0:0.0	.	766;48;765;765;765	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	T	765;765;765;765;48;765;766;766;766	ENSP00000319377:A765T;ENSP00000438030:A765T;ENSP00000340473:A765T;ENSP00000346231:A765T;ENSP00000375655:A765T;ENSP00000375653:A766T;ENSP00000375652:A766T	ENSP00000319377:A765T	A	-	1	0	NLRP12	59000467	0.018000	0.18449	0.017000	0.16124	0.245000	0.25701	2.587000	0.46128	1.893000	0.54813	0.289000	0.19496	GCT		TCGA-IB-7651-01A-11D-2154-08	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	1	0	1	134	626	0	117	0	3.149595e-02	0	2	0	117	2		0	0	0	0	0	2	1	1	133	610	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP12	91662	broad.mit.edu	37	19	54313231	54313231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313231C>T	ENST00000324134.6	-	3	1850	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12			80	Ovarian(34;0.19)				AAACAGGAAGCGGCTGGTGAG	0.612000																								0							SO:0001583	missense			ENST00000324134.6	1	1	hg19	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	8.046	0.765011	0.15914	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.05	1.75	0.24633	.	0.421101	0.17587	N	0.168891	D	0.83727	0.5317	M	0.70903	2.155	0.80722	D	1	B;B;B;B	0.25904	0.066;0.066;0.066;0.137	B;B;B;B	0.20184	0.008;0.008;0.008;0.028	T	0.71137	-0.4680	10	0.10636	T	0.68	.	7.3897	0.26903	0.0:0.7809:0.0:0.2191	.	561;561;561;561	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	561	ENSP00000319377:R561H;ENSP00000438030:R561H;ENSP00000340473:R561H;ENSP00000346231:R561H;ENSP00000375655:R561H;ENSP00000375653:R561H;ENSP00000375652:R561H	ENSP00000319377:R561H	R	-	2	0	NLRP12	59005043	0.031000	0.19500	0.454000	0.27019	0.181000	0.23173	0.717000	0.25851	0.270000	0.21984	0.485000	0.47835	CGC		TCGA-IB-7651-01A-11D-2154-08	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	1	0	1	98	525	0	127	0	6.775853e-02	0	3	0	127	2		0	0	0	0	0	2	1	1	96	514	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP12	91662	broad.mit.edu	37	19	54313950	54313950	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313950C>T	ENST00000324134.6	-	3	1131	c.963G>A	c.(961-963)gaG>gaA	p.E321E	NLRP12_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E|NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000391775.3_Silent_p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12			80	Ovarian(34;0.19)				TAAGAAGCAGCTCCGTGGGCC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000324134.6	1	1	hg19	CCDS12864.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	1	0	1	93	308	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	91	306	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYADM	91663	broad.mit.edu	37	19	54377221	54377221	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377221C>T	ENST00000391769.2	+	3	718	c.438C>T	c.(436-438)atC>atT	p.I146I	MYADM_ENST00000336967.3_Silent_p.I146I|MYADM_ENST00000391771.1_Silent_p.I146I|MYADM_ENST00000391770.4_Silent_p.I146I|MYADM_ENST00000391768.2_Silent_p.I146I|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker			12	Ovarian(34;0.19)				TCTCCTGCATCGCGTGTGTGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000391769.2	1	1	hg19	CCDS12866.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	1	0	1	87	432	0	104	1	1	44	461	0	104	2		0	0	0	0	0	2	1	1	83	424	0	103	2								-20.000000	1	0	121408	2	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYADM	91663	broad.mit.edu	37	19	54377236	54377236	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377236C>T	ENST00000391769.2	+	3	733	c.453C>T	c.(451-453)taC>taT	p.Y151Y	MYADM_ENST00000336967.3_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000391770.4_Silent_p.Y151Y|MYADM_ENST00000391768.2_Silent_p.Y151Y|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker			12	Ovarian(34;0.19)				GTGTGGCTTACGCCACCGAAG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000391769.2	1	1	hg19	CCDS12866.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	1	0	1	80	417	0	107	1	1	49	465	0	107	2		0	0	0	0	0	2	1	1	76	410	0	107	2								-20.000000	1	0	121404	1	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYADM	91663	broad.mit.edu	37	19	54377422	54377422	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377422C>T	ENST00000391769.2	+	3	919	c.639C>T	c.(637-639)tgC>tgT	p.C213C	MYADM_ENST00000336967.3_Silent_p.C213C|MYADM_ENST00000391771.1_Silent_p.C213C|MYADM_ENST00000391770.4_Silent_p.C213C|MYADM_ENST00000391768.2_Silent_p.C213C|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker			12	Ovarian(34;0.19)				ACGCCATCTGCTTCATCCTAG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000391769.2	1	1	hg19	CCDS12866.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	0	0	1	165	642	0	140	1	1	39	532	0	140	2		0	0	0	0	0	2	1	1	164	634	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCG	5582	broad.mit.edu	37	19	54401709	54401709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54401709C>T	ENST00000263431.3	+	11	1390	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma			10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			Tamoxifen(DB00675)	GCTGGCCGAGCGCAGGGGCTC	0.577000																								0							SO:0001583	missense			ENST00000263431.3	1	1	hg19	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224028	0.79576	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.66995	-0.24;-0.24;-0.24	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.68696	0.3029	L	0.31476	0.935	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.997	P;P;P	0.61800	0.894;0.819;0.887	T	0.71523	-0.4567	9	0.87932	D	0	.	11.434	0.50058	0.1803:0.8197:0.0:0.0	.	257;370;370	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	C	370;370;257	ENSP00000443493:R370C;ENSP00000263431:R370C;ENSP00000438090:R257C	ENSP00000263431:R370C	R	+	1	0	PRKCG	59093521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.669000	0.37492	2.528000	0.85240	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	0	0	0	11	304	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	9.982919e-01	11	300	0	81	2								-11.503970	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.440000	0.220000	1.000000	0.400000	0.487615	0.440000	0	3.200000e-01	6.200000e-01
PRKCG	5582	broad.mit.edu	37	19	54403724	54403724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54403724C>T	ENST00000263431.3	+	13	1707	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	PRKCG_ENST00000542049.1_Silent_p.G362G|PRKCG_ENST00000540413.1_Silent_p.G475G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma			10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			Tamoxifen(DB00675)	ACAATCAGGGCATCATCTACA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000263431.3	1	1	hg19	CCDS12867.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	1	0	1	39	231	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	39	227	0	45	2								-20.000000	1	1	121412	1	25	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
VSTM1	284415	broad.mit.edu	37	19	54544247	54544247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544247C>A	ENST00000338372.2	-	9	854	c.679G>T	c.(679-681)Gga>Tga	p.G227*	VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1			18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)				TCATGAGATCCTGGGGGCTCC	0.557000																								0							SO:0001587	stop_gained			ENST00000338372.2	0	1	hg19	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006827	0.35415	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	.	.	.	2.63	0.503	0.16940	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.7657	0.13130	0.0:0.6976:0.0:0.3024	.	.	.	.	X	117;227;196;139	.	ENSP00000343366:G227X	G	-	1	0	VSTM1	59236059	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.748000	0.26305	0.222000	0.20900	-0.259000	0.10710	GGA		TCGA-IB-7651-01A-11D-2154-08	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	1	0	1	34	156	0	36	0	8.903771e-02	0	3	0	36	2		0	0	0	0	0	2	1	1	33	152	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
VSTM1	284415	broad.mit.edu	37	19	54544318	54544318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544318C>T	ENST00000338372.2	-	9	783	c.608G>A	c.(607-609)gGa>gAa	p.G203E	VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1			18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)				ATAGGTCACTCCTTGGGGGTC	0.493000																								0							SO:0001583	missense			ENST00000338372.2	1	1	hg19	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	5.636	0.302002	0.10678	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.49720	1.4;7.0;5.9;0.77	2.67	-2.75	0.05914	.	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.22080	0.023;0.064	B;B	0.17433	0.01;0.018	T	0.32348	-0.9910	9	0.02654	T	1	.	6.9053	0.24305	0.0:0.3799:0.0:0.6201	.	172;203	D2DJS4;Q6UX27	.;VSTM1_HUMAN	E	93;203;172;115	ENSP00000409412:G93E;ENSP00000343366:G203E;ENSP00000365813:G172E;ENSP00000444153:G115E	ENSP00000343366:G203E	G	-	2	0	VSTM1	59236130	0.001000	0.12720	0.001000	0.08648	0.449000	0.32228	-1.834000	0.01693	-0.510000	0.06523	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	1	0	1	24	75	0	21	0	6.309454e-02	0	2	0	21	2		0	0	0	0	0	2	1	9.999999e-01	24	73	0	21	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNRF4	148066	broad.mit.edu	37	19	5455699	5455699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5455699C>T	ENST00000222033.4	+	1	274	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	p.A66V(1)		16					ACACAGACAGCGAAGCGGGTG	0.697000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000222033.4	1	1	hg19	CCDS42475.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.569	1.120575	0.20877	0.0	1.2E-4	ENSG00000105428	ENST00000222033	T	0.04706	3.57	3.22	-4.37	0.03633	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	P	0.45396	0.857	B	0.35240	0.198	T	0.46005	-0.9222	9	0.54805	T	0.06	.	10.7534	0.46221	0.3551:0.6449:0.0:0.0	.	66	Q8WWF5	ZNRF4_HUMAN	V	66	ENSP00000222033:A66V	ENSP00000222033:A66V	A	+	2	0	ZNRF4	5406699	0.015000	0.18098	0.001000	0.08648	0.016000	0.09150	-0.968000	0.03817	-0.629000	0.05575	0.313000	0.20887	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	1	0	1	96	362	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	95	355	0	75	2								-3.858010	1	1	120946	3	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNRF4	148066	broad.mit.edu	37	19	5456539	5456539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5456539G>A	ENST00000222033.4	+	1	1114	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4			16					GCCCCCCGGCGCTCCTGCCCC	0.622000																								0							SO:0001583	missense			ENST00000222033.4	1	1	hg19	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497890	0.26861	.	.	ENSG00000105428	ENST00000222033	T	0.44482	0.92	4.47	2.17	0.27698	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.131872	0.46442	U	0.000287	T	0.24122	0.0584	N	0.25890	0.77	0.09310	N	1	B	0.28400	0.21	B	0.26614	0.071	T	0.14282	-1.0478	10	0.59425	D	0.04	-18.9158	3.2793	0.06909	0.2195:0.0:0.5723:0.2082	.	346	Q8WWF5	ZNRF4_HUMAN	H	346	ENSP00000222033:R346H	ENSP00000222033:R346H	R	+	2	0	ZNRF4	5407539	0.142000	0.22610	0.128000	0.21923	0.725000	0.41563	1.135000	0.31454	0.871000	0.35750	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	0	0	0	20	635	0	140		0	0	0	0	140	2		0	0	0	0	0	2	1	9.999946e-01	21	626	0	137	2								-3.460792	1	1	120910	1	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.370000	0.230000	1.000000	0.360000	0.426987	0.370000	0	2.900000e-01	4.900000e-01
OSCAR	126014	broad.mit.edu	37	19	54600355	54600355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54600355G>A	ENST00000284648.6	-	4	364	c.167C>T	c.(166-168)cCc>cTc	p.P56L	OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L|OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor			2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)				AGCGGGTTGGGGTGCCCGGCA	0.587000																								0							SO:0001583	missense			ENST00000284648.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.62	2.887743	0.52014	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56	4.05	2.99	0.34606	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.372474	0.19477	U	0.113310	T	0.29288	0.0729	M	0.73372	2.23	0.20489	N	0.999894	D;P;D;D;D;D	0.71674	0.998;0.889;0.982;0.99;0.993;0.976	D;P;P;P;P;P	0.66716	0.946;0.805;0.864;0.859;0.817;0.795	T	0.02075	-1.1218	10	0.52906	T	0.07	.	7.0457	0.25044	0.1264:0.0:0.8736:0.0	.	56;45;45;60;56;60	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	L	45;60;60;56;45;56	ENSP00000375641:P45L;ENSP00000348927:P60L;ENSP00000352671:P60L;ENSP00000351145:P56L;ENSP00000304523:P45L;ENSP00000365808:P56L	ENSP00000365808:P56L	P	-	2	0	OSCAR	59292167	0.440000	0.25618	0.560000	0.28344	0.566000	0.35808	2.588000	0.46137	2.001000	0.58596	0.585000	0.79938	CCC		TCGA-IB-7651-01A-11D-2154-08	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	1	0	1	100	544	0	123	0	9.998358e-01	0	70	0	123	2		0	0	0	0	0	2	1	1	98	537	0	122	2								-20.000000	1	1	121412	2	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT3	4849	broad.mit.edu	37	19	54647751	54647751	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54647751C>T	ENST00000406403.1	+	5	1871	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3			28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				GCAAATGGAACGGTTCAAAGT	0.557000																								0							SO:0001583	missense			ENST00000406403.1	1	1	hg19	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736368	0.69189	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.53423	0.62;0.62	5.28	2.95	0.34219	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.73398	-0.3995	10	0.87932	D	0	-32.5338	11.5923	0.50953	0.5082:0.4918:0.0:0.0	.	90;90;14	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	W	90	ENSP00000221232:R90W;ENSP00000383954:R90W	ENSP00000221232:R90W	R	+	1	2	CNOT3	59339563	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.363000	0.44178	1.327000	0.45338	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1	77	443	0	117	1	9.999999e-01	34	104	0	117	2		0	0	0	0	0	2	1	1	74	436	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT3	4849	broad.mit.edu	37	19	54649380	54649380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54649380G>A	ENST00000406403.1	+	7	2133	c.530G>A	c.(529-531)cGc>cAc	p.R177H	CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3			28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				GAGAAGCACCGCTACCACGTG	0.607000																								0							SO:0001583	missense			ENST00000406403.1	1	1	hg19	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.011912|5.011912	0.93346|0.93346	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000406403	.|T;T	.|0.48201	.|0.82;0.82	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Not CCR4-Not complex component, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.997;0.999	T|T	0.68224|0.68224	-0.5465|-0.5465	5|10	.|0.87932	.|D	.|0	-25.8557|-25.8557	17.3261|17.3261	0.87248|0.87248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|177;177;101	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	T|H	99|177	.|ENSP00000221232:R177H;ENSP00000383954:R177H	.|ENSP00000221232:R177H	A|R	+|+	1|2	0|0	CNOT3|CNOT3	59341192|59341192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	9.430000|9.430000	0.97488|0.97488	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	GCT|CGC		TCGA-IB-7651-01A-11D-2154-08	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1	39	159	0	40	1	1	34	103	0	40	2		0	0	0	0	0	2	1	1	38	158	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT3	4849	broad.mit.edu	37	19	54652176	54652176	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54652176C>T	ENST00000406403.1	+	10	2791	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	CNOT3_ENST00000221232.5_Silent_p.S396S|CNOT3_ENST00000358389.3_Silent_p.S215S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3			28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				TCCAGCCTAgcggaggcggag	0.706000																								0							SO:0001819	synonymous_variant			ENST00000406403.1	1	1	hg19	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	c	0.073	-1.198728	0.01581	7.4E-4	2.5E-4	ENSG00000088038	ENST00000440571	.	.	.	3.15	-3.94	0.04130	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	-2.0331	5.4076	0.16330	0.0:0.3536:0.1466:0.4998	.	.	.	.	V	318	.	.	A	+	2	0	CNOT3	59343988	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	-1.357000	0.02607	-0.906000	0.03866	-0.436000	0.05848	GCG		TCGA-IB-7651-01A-11D-2154-08	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	0	26	92	0	12	1	9.688721e-01	4	19	0	12	2		0	0	0	0	0	2	1	1	26	90	0	12	2								-3.354680	1	1	118520	25	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CNOT3	4849	broad.mit.edu	37	19	54656031	54656031	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54656031C>T	ENST00000406403.1	+	13	3277	c.1674C>T	c.(1672-1674)gaC>gaT	p.D558D	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.D558D|CNOT3_ENST00000358389.3_Silent_p.D377D			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3			28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				GCATTGAGGACCCTGTGCCAA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000406403.1	1	0	hg19	CCDS12880.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	10.13	1.265663	0.23136	.	.	ENSG00000088038	ENST00000457463	.	.	.	4.59	-0.545	0.11843	.	.	.	.	.	T	0.47358	0.1441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47522	-0.9111	4	.	.	.	-37.2479	9.3688	0.38241	0.0:0.6044:0.0:0.3956	.	.	.	.	S	90	.	.	P	+	1	0	CNOT3	59347843	0.997000	0.39634	0.998000	0.56505	0.974000	0.67602	0.422000	0.21296	0.143000	0.18926	-0.137000	0.14449	CCC		TCGA-IB-7651-01A-11D-2154-08	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	0	85	402	0	79	1	1	33	85	0	79	2		0	0	0	0	0	2	1	1	84	391	0	79	2								-20.000000	1	1	121412	27	45	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT3	4849	broad.mit.edu	37	19	54659048	54659048	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659048G>T	ENST00000406403.1	+	17	3768	c.2165G>T	c.(2164-2166)gGc>gTc	p.G722V	CNOT3_ENST00000221232.5_Splice_Site_p.G722V|LENG1_ENST00000222224.3_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3			28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				CCCGGCCAGGGCACCTACATC	0.592000																								0							SO:0001630	splice_region_variant			ENST00000406403.1	1	0	hg19	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770074	0.90108	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.61274	0.12;0.12;0.12	4.49	4.49	0.54785	NOT2/NOT3/NOT5 (1);	0.065863	0.64402	D	0.000017	D	0.82747	0.5104	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88337	0.2972	10	0.87932	D	0	-29.4252	16.5216	0.84318	0.0:0.0:1.0:0.0	.	722	O75175	CNOT3_HUMAN	V	722;722;57	ENSP00000221232:G722V;ENSP00000383954:G722V;ENSP00000420064:G57V	ENSP00000221232:G722V	G	+	2	0	CNOT3	59350860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.110000	0.94302	2.503000	0.84419	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1	16	105	0	39	1	9.999748e-01	46	86	0	39	2		0	0	0	0	0	2	1	9.999474e-01	16	103	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.950000	1.000000	1.000000	0.996357	0.990000	1	9.900000e-01	1
CNOT3	4849	broad.mit.edu	37	19	54659086	54659086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659086C>T	ENST00000406403.1	+	17	3806	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W|LENG1_ENST00000222224.3_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3			28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				GTGGGGCCAGCGGAAGAAGGA	0.637000																								0							SO:0001583	missense			ENST00000406403.1	1	1	hg19	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906876	0.72868	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.49720	0.77;0.77;0.77	4.77	1.38	0.22167	NOT2/NOT3/NOT5 (1);	0.141024	0.42821	D	0.000656	T	0.54775	0.1879	H	0.95437	3.67	0.80722	D	1	B	0.18310	0.027	B	0.17722	0.019	T	0.55541	-0.8125	10	0.87932	D	0	-20.1511	5.2967	0.15756	0.2816:0.562:0.0:0.1564	.	735	O75175	CNOT3_HUMAN	W	735;735;70	ENSP00000221232:R735W;ENSP00000383954:R735W;ENSP00000420064:R70W	ENSP00000221232:R735W	R	+	1	2	CNOT3	59350898	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.468000	0.35332	0.312000	0.23038	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1	15	102	0	38	1	9.997468e-01	35	68	0	38	2		0	0	0	0	0	2	1	9.998812e-01	14	99	0	37	2								-19.999800	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.900000	1.000000	1.000000	0.994534	0.990000	1	9.900000e-01	1
LENG1	79165	broad.mit.edu	37	19	54660522	54660522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54660522G>T	ENST00000222224.3	-	3	740	c.554C>A	c.(553-555)tCt>tAt	p.S185Y		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1			8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				CTGCTTCTCAGACCCCTCCTT	0.617000																								0							SO:0001583	missense			ENST00000222224.3	0	1	hg19	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421078	0.42918	.	.	ENSG00000105617	ENST00000222224	T	0.47869	0.83	5.07	-1.7	0.08159	.	3.044690	0.00990	N	0.003510	T	0.32194	0.0821	N	0.17838	0.53	0.09310	N	1	B	0.19583	0.037	B	0.23275	0.045	T	0.26430	-1.0103	10	0.59425	D	0.04	20.2453	3.3208	0.07049	0.0824:0.2918:0.3611:0.2647	.	185	Q96BZ8	LENG1_HUMAN	Y	185	ENSP00000222224:S185Y	ENSP00000222224:S185Y	S	-	2	0	LENG1	59352334	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	0.409000	0.21082	-0.181000	0.10619	0.609000	0.83330	TCT		TCGA-IB-7651-01A-11D-2154-08	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	0	0	0	15	590	0	102	1	6.458124e-01	2	84	0	102	2		0	0	0	0	0	2	1	9.998678e-01	15	587	0	102	2								-2.927515	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.300000	0.170000	1.000000	0.290000	0.366136	0.300000	0	2.300000e-01	4.200000e-01
TMC4	147798	broad.mit.edu	37	19	54669172	54669172	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54669172A>G	ENST00000376591.4	-	6	1075	c.944T>C	c.(943-945)aTc>aCc	p.I315T	TMC4_ENST00000476013.2_Intron|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.I309T	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4			22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				GTACAAGATGATGCGCTGGCG	0.627000																								0							SO:0001583	missense			ENST00000376591.4	1	1	hg19	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	A	7.863	0.726483	0.15439	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.48836	0.8;0.8	4.8	-9.6	0.00553	.	1.465370	0.03977	N	0.292608	T	0.22166	0.0534	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.004;0.007	T	0.11743	-1.0575	10	0.32370	T	0.25	1.9022	3.5511	0.07847	0.1261:0.1019:0.1674:0.6046	.	315;309	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	T	309;315	ENSP00000301187:I309T;ENSP00000365776:I315T	ENSP00000301187:I309T	I	-	2	0	TMC4	59360984	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-3.812000	0.00360	-2.500000	0.00511	0.529000	0.55759	ATC		TCGA-IB-7651-01A-11D-2154-08	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2	1	0	1	21	105	0	23	1	9.995719e-01	7	60	0	23	2		0	0	0	0	0	2	1	9.999985e-01	21	103	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999866	0.990000	1	9.900000e-01	1
LILRA6	79168	broad.mit.edu	37	19	54742952	54742952	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54742952C>A	ENST00000396365.2	-	8	1362	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N	LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6			38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				CTGTGTAATCCTTGGCGTGTG	0.592000																								0							SO:0001583	missense			ENST00000396365.2	1	1	hg19	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983783	0.18889	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00523	6.85;6.83	2.69	1.44	0.22558	.	.	.	.	.	T	0.00384	0.0012	L	0.34521	1.04	0.36748	D	0.882587	B	0.12630	0.006	B	0.04013	0.001	T	0.58526	-0.7621	9	0.66056	D	0.02	.	4.9023	0.13781	0.0:0.7616:0.0:0.2384	.	441	Q6PI73	LIRA6_HUMAN	N	441;424	ENSP00000379651:K441N;ENSP00000245621:K424N	ENSP00000245621:K424N	K	-	3	2	LILRA6	59434764	0.014000	0.17966	0.096000	0.21009	0.039000	0.13416	-0.216000	0.09266	0.255000	0.21593	0.174000	0.16983	AAG		TCGA-IB-7651-01A-11D-2154-08	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	1	0	0	40	429	0	104	0	5.515554e-01	0	21	0	104	2		0	0	0	0	0	2	1	1	40	421	0	102	2								-2.879461	1	1	0	0		1	0	7	7	2.614922	1	0.170000	2.060000	4.175439e-01	0.990000	0.990000	1.000000	1.000000	0.999314	0.990000	1	9.900000e-01	1
LILRA6	79168	broad.mit.edu	37	19	54745706	54745706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54745706G>A	ENST00000396365.2	-	4	443	c.404C>T	c.(403-405)gCc>gTc	p.A135V	LILRA6_ENST00000440558.2_Missense_Mutation_p.A135V|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V|LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6			38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				CCCCCCTGAGGCCACCACAGG	0.562000																								0							SO:0001583	missense			ENST00000396365.2	1	1	hg19	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951506	0.34471	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;4.09;2.68;2.68	3.4	2.34	0.29019	Immunoglobulin-like fold (1);	1.765360	0.02642	N	0.105493	T	0.35335	0.0928	M	0.72353	2.195	0.09310	N	1	B;B;P;P;P;P	0.51791	0.413;0.354;0.803;0.617;0.796;0.948	B;B;P;B;P;D	0.63192	0.352;0.26;0.472;0.255;0.471;0.912	T	0.02877	-1.1099	10	0.59425	D	0.04	.	6.8117	0.23809	0.1364:0.0:0.8636:0.0	.	135;135;135;135;135;135	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	V	135	ENSP00000390120:A135V;ENSP00000270464:A135V;ENSP00000411227:A135V;ENSP00000375615:A135V;ENSP00000379651:A135V;ENSP00000245621:A135V	ENSP00000245621:A135V	A	-	2	0	LILRA6	59437518	0.024000	0.19004	0.052000	0.19188	0.049000	0.14656	2.509000	0.45459	0.789000	0.33779	0.184000	0.17185	GCC		TCGA-IB-7651-01A-11D-2154-08	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	1	0	0	87	944	0	207	0	4.303831e-01	0	17	0	207	2		0	0	0	0	0	2	1	1	82	884	0	239	2								-19.685370	1	1	0	0		1	0	7	7	2.614922	1	0.170000	2.060000	4.175439e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
LILRB5	10990	broad.mit.edu	37	19	54759962	54759962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54759962C>A	ENST00000316219.5	-	4	706	c.599G>T	c.(598-600)aGg>aTg	p.R200M	LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000450632.1_Missense_Mutation_p.R191M|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5			56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)				AGGGTTTTTCCTGTAATAGTA	0.532000																								0							SO:0001583	missense			ENST00000316219.5	1	1	hg19	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371914	0.42003	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561	T;T;T	0.00768	5.72;5.72;5.72	3.25	0.989	0.19802	Immunoglobulin-like fold (1);	1.747240	0.03172	N	0.170856	T	0.04227	0.0117	M	0.84948	2.725	0.09310	N	1	D;D;D	0.76494	0.981;0.999;0.999	P;D;D	0.66847	0.783;0.932;0.947	T	0.27054	-1.0085	10	0.44086	T	0.13	.	4.4133	0.11443	0.0:0.6292:0.2346:0.1362	.	191;200;200	C9JMK7;O75023-3;O75023	.;.;LIRB5_HUMAN	M	200;191;200	ENSP00000320390:R200M;ENSP00000414225:R191M;ENSP00000406478:R200M	ENSP00000320390:R200M	R	-	2	0	LILRB5	59451774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.499000	0.06413	0.190000	0.20209	0.446000	0.29264	AGG		TCGA-IB-7651-01A-11D-2154-08	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2	1	0	1	67	311	0	69	0	8.014125e-01	0	16	0	69	2		0	0	0	0	0	2	1	1	66	305	0	69	2								-2.645333	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LILRB2	10288	broad.mit.edu	37	19	54778643	54778643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54778643T>C	ENST00000391749.4	-	14	1962	c.1691A>G	c.(1690-1692)cAg>cGg	p.Q564R	LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.Q563R	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2			44	Ovarian(34;0.19)				GCTGTGCAGCTGGGCGTAGGT	0.652000																								0							SO:0001583	missense			ENST00000391749.4	1	1	hg19	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598581	0.46318	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00625	6.27;6.27;6.25;6.14	1.31	1.31	0.21738	.	.	.	.	.	T	0.02970	0.0088	M	0.87900	2.915	0.18873	N	0.999982	D;D	0.69078	0.997;0.994	D;D	0.75020	0.985;0.979	T	0.33828	-0.9853	9	0.66056	D	0.02	.	4.8943	0.13742	0.0:0.0:0.0:1.0	.	580;564	E7EVY1;Q8N423	.;LIRB2_HUMAN	R	563;563;564;448	ENSP00000375628:Q563R;ENSP00000319960:Q563R;ENSP00000375629:Q564R;ENSP00000410117:Q448R	ENSP00000319960:Q563R	Q	-	2	0	LILRB2	59470455	0.934000	0.31675	0.664000	0.29753	0.267000	0.26476	0.579000	0.23788	0.885000	0.36088	0.246000	0.17985	CAG		TCGA-IB-7651-01A-11D-2154-08	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1	1	0	1	107	402	0	100	0	9.999999e-01	0	90	0	100	2		0	0	0	0	0	2	1	1	98	376	0	115	2								-20.000000	1	1	121412	2	31	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LILRB2	10288	broad.mit.edu	37	19	54782896	54782896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54782896G>A	ENST00000391749.4	-	6	997	c.726C>T	c.(724-726)acC>acT	p.T242T	LILRB2_ENST00000434421.1_Silent_p.T126T|LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Silent_p.T242T	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2			44	Ovarian(34;0.19)				CACACTGGAGGGTCAGGCTTT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000391749.4	1	1	hg19	CCDS12886.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1	0	0	0	17	542	0	108	0	5.000182e-01	0	53	0	108	2		0	0	0	0	0	2	1	9.999607e-01	17	533	0	108	2								-3.456219	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.380000	0.220000	1.000000	0.360000	0.462031	0.380000	0	2.900000e-01	5.600000e-01
LILRA5	353514	broad.mit.edu	37	19	54822915	54822915	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54822915G>T	ENST00000301219.3	-	5	600	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K|LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5			20	Ovarian(34;0.19)				GAGCCACACTGGAGGGTCACG	0.562000																								0							SO:0001583	missense			ENST00000301219.3	1	1	hg19	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515449	0.12944	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03181	4.02;4.02;4.02;4.02	3.14	2.04	0.26737	Immunoglobulin-like fold (1);	0.690178	0.11907	U	0.518010	T	0.05823	0.0152	M	0.68952	2.095	0.09310	N	1	B;B;B;B	0.29115	0.106;0.233;0.094;0.11	B;B;B;B	0.29077	0.071;0.056;0.03;0.098	T	0.27839	-1.0062	10	0.51188	T	0.08	.	7.5281	0.27666	0.0:0.0:0.7427:0.2573	.	149;161;149;161	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	K	161;149;149;161	ENSP00000301219:Q161K;ENSP00000302948:Q149K;ENSP00000389499:Q149K;ENSP00000404236:Q161K	ENSP00000301219:Q161K	Q	-	1	0	LILRA5	59514727	0.538000	0.26394	0.176000	0.23000	0.021000	0.10359	1.675000	0.37555	0.407000	0.25591	0.205000	0.17691	CAG		TCGA-IB-7651-01A-11D-2154-08	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	1	0	1	92	392	0	103	0	9.943610e-01	0	36	0	103	2		0	0	0	0	0	2	1	1	87	381	0	102	2								-3.381598	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LILRA4	23547	broad.mit.edu	37	19	54849305	54849305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54849305G>A	ENST00000291759.4	-	4	613	c.557C>T	c.(556-558)aCc>aTc	p.T186I	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4			32	Ovarian(34;0.19)				GTTGCTGAAGGTCAGGGGGCC	0.557000																								0							SO:0001583	missense			ENST00000291759.4	1	1	hg19	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	9.285	1.049228	0.19827	.	.	ENSG00000239961	ENST00000291759	T	0.03831	3.79	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.845757	0.10283	N	0.693289	T	0.06690	0.0171	M	0.83012	2.62	0.09310	N	1	B	0.29571	0.249	B	0.30572	0.117	T	0.21245	-1.0251	10	0.62326	D	0.03	.	2.6998	0.05145	0.2127:0.4668:0.186:0.1345	.	186	P59901	LIRA4_HUMAN	I	186	ENSP00000291759:T186I	ENSP00000291759:T186I	T	-	2	0	LILRA4	59541117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.254000	0.02874	-1.571000	0.01663	-0.244000	0.11960	ACC		TCGA-IB-7651-01A-11D-2154-08	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	1	0	1	33	196	0	57	0	5.975285e-02	0	3	0	57	2		0	0	0	0	0	2	1	1	33	195	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999941	0.990000	1	9.900000e-01	1
TTYH1	57348	broad.mit.edu	37	19	54932493	54932493	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54932493T>C	ENST00000376530.3	+	3	451	c.348T>C	c.(346-348)agT>agC	p.S116S	TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000301194.4_Silent_p.S116S	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1			17	Ovarian(34;0.19)				GTGAGACCAGTGATGGGGTGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000376530.3	1	1	hg19	CCDS12893.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1	1	0	1	63	306	0	89	0	2.083922e-01	0	5	0	89	2		0	0	0	0	0	2	1	1	62	302	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LENG8	114823	broad.mit.edu	37	19	54965677	54965677	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54965677G>T	ENST00000326764.5	+	6	974	c.495G>T	c.(493-495)caG>caT	p.Q165H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8			30	Ovarian(34;0.19)				CGTCGGCTCAGCCCCCTCAGC	0.682000																								0							SO:0001583	missense			ENST00000326764.5	1	1	hg19	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118360	0.56505	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.48201	1.39;0.82;1.42;1.35	5.23	3.05	0.35203	.	0.363370	0.28671	N	0.014526	T	0.43500	0.1250	L	0.51422	1.61	0.80722	D	1	P;P	0.48503	0.911;0.627	P;B	0.47981	0.563;0.098	T	0.24225	-1.0166	10	0.14656	T	0.56	-30.3481	9.66	0.39950	0.1731:0.0:0.8269:0.0	.	165;128	Q96PV6-2;F8W9Q9	.;.	H	165;128;165;128;165	ENSP00000318374:Q165H;ENSP00000399507:Q165H;ENSP00000365709:Q128H;ENSP00000388053:Q165H	ENSP00000301196:Q128H	Q	+	3	2	LENG8	59657489	0.995000	0.38212	1.000000	0.80357	0.692000	0.40212	0.414000	0.21164	1.314000	0.45095	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	1	0	1	43	205	0	47	1	9.999999e-01	38	90	0	47	2		0	0	0	0	0	2	1	1	42	201	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LENG8	114823	broad.mit.edu	37	19	54966209	54966209	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966209C>T	ENST00000326764.5	+	7	1238	c.759C>T	c.(757-759)aaC>aaT	p.N253N	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8			30	Ovarian(34;0.19)				TTGGCTCCAACGCAGAGGGCC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000326764.5	1	1	hg19	CCDS12894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	1	0	1	51	231	0	64	1	9.999999e-01	24	89	0	64	2		0	0	0	0	0	2	1	1	51	224	0	64	2								-20.000000	1	1	121412	2	32	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LENG8	114823	broad.mit.edu	37	19	54966594	54966594	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966594G>T	ENST00000326764.5	+	8	1352	c.873G>T	c.(871-873)caG>caT	p.Q291H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8			30	Ovarian(34;0.19)				ACTGGCCCCAGGACATGAAAG	0.632000																								0							SO:0001583	missense			ENST00000326764.5	1	1	hg19	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001255	0.74818	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.57273	1.42;0.41;1.41;1.39	5.38	3.23	0.37069	.	0.059035	0.64402	D	0.000002	T	0.63815	0.2543	M	0.63843	1.955	0.80722	D	1	P;D	0.71674	0.925;0.998	P;D	0.69479	0.735;0.964	T	0.64711	-0.6343	10	0.59425	D	0.04	-23.4433	7.9572	0.30049	0.2569:0.0:0.7431:0.0	.	291;254	Q96PV6-2;F8W9Q9	.;.	H	291;254;291;254;291	ENSP00000318374:Q291H;ENSP00000399507:Q291H;ENSP00000365709:Q254H;ENSP00000388053:Q291H	ENSP00000301196:Q254H	Q	+	3	2	LENG8	59658406	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.724000	0.47285	1.419000	0.47118	-0.136000	0.14681	CAG		TCGA-IB-7651-01A-11D-2154-08	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	1	0	1	82	277	0	65	1	1	39	89	0	65	2		0	0	0	0	0	2	1	1	80	271	0	63	2								-4.088641	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LENG8	114823	broad.mit.edu	37	19	54969152	54969152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54969152G>A	ENST00000326764.5	+	13	2352	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8			30	Ovarian(34;0.19)				GGAGGTGTACGAGACCCATGC	0.667000																								0							SO:0001583	missense			ENST00000326764.5	1	1	hg19	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524366	0.96431	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.39229	1.09;1.09;1.09	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.89840	3.065	0.80722	D	1	P;P	0.52170	0.951;0.918	P;B	0.48552	0.581;0.432	T	0.71981	-0.4428	10	0.87932	D	0	-27.9672	16.5215	0.84318	0.0:0.0:1.0:0.0	.	625;588	Q96PV6-2;F8W9Q9	.;.	K	625;588;588;625	ENSP00000318374:E625K;ENSP00000365709:E588K;ENSP00000388053:E625K	ENSP00000301196:E588K	E	+	1	0	LENG8	59660964	1.000000	0.71417	0.988000	0.46212	0.829000	0.46940	8.587000	0.90810	2.582000	0.87167	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	1	0	1	67	281	0	75	1	1	35	116	0	75	2		0	0	0	0	0	2	1	1	66	275	0	74	2								-3.529066	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAIR2	3904	broad.mit.edu	37	19	55019358	55019358	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55019358G>A	ENST00000301202.2	+	3	445	c.323G>A	c.(322-324)gGa>gAa	p.G108E	LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2			18	Ovarian(34;0.19)				AAGCCCCCTGGATGGTCTGAG	0.547000																								0							SO:0001583	missense			ENST00000301202.2	1	1	hg19	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.458951	0.01062	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.15139	2.45;2.61	3.77	-7.55	0.01327	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.257690	0.00166	N	0.000009	T	0.08088	0.0202	N	0.13272	0.32	0.09310	N	1	B;B	0.27068	0.167;0.125	B;B	0.31390	0.085;0.129	T	0.18935	-1.0321	9	.	.	.	.	1.3272	0.02128	0.1782:0.2237:0.1497:0.4485	.	108;108	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	E	108	ENSP00000301202:G108E;ENSP00000301203:G108E	.	G	+	2	0	LAIR2	59711170	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-5.739000	0.00101	-1.884000	0.01119	0.313000	0.20887	GGA		TCGA-IB-7651-01A-11D-2154-08	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1	1	0	1	109	487	0	119	0	9.480983e-01	0	24	0	119	2		0	0	0	0	0	2	1	1	106	479	0	118	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LILRA2	11027	broad.mit.edu	37	19	55086036	55086036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086036G>A	ENST00000251377.3	+	4	472	c.339G>A	c.(337-339)gaG>gaA	p.E113E	LILRA2_ENST00000391737.1_Silent_p.E101E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.E113E|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2			50					ACCCCCTGGAGCTGGTGGTGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000251377.3	1	1	hg19	CCDS46179.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2	1	0	1	70	272	0	76	0	8.413002e-01	0	15	0	76	2		0	0	0	0	0	2	1	1	69	268	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LILRA2	11027	broad.mit.edu	37	19	55086372	55086372	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086372C>A	ENST00000251377.3	+	5	660	c.527C>A	c.(526-528)tCc>tAc	p.S176Y	LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2			50					CGTGGGTGGTCCTGGGCCATC	0.567000																								0							SO:0001583	missense			ENST00000251377.3	1	1	hg19	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881285	0.02530	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	2.4	-4.8	0.03190	Immunoglobulin-like fold (1);	2.625940	0.01171	N	0.006877	T	0.06645	0.0170	L	0.42581	1.335	0.09310	N	1	B;B;B;D	0.60575	0.015;0.136;0.247;0.988	B;B;B;P	0.56163	0.006;0.097;0.15;0.793	T	0.51725	-0.8669	10	0.02654	T	1	.	8.9482	0.35771	0.0:0.2403:0.0:0.7597	.	176;164;176;176	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	176;176;176;176;164	ENSP00000388131:S176Y;ENSP00000251377:S176Y;ENSP00000375618:S176Y;ENSP00000251376:S176Y;ENSP00000375617:S164Y	ENSP00000251376:S176Y	S	+	2	0	LILRA2	59778184	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.287000	0.00526	-1.244000	0.02516	-0.358000	0.07595	TCC		TCGA-IB-7651-01A-11D-2154-08	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2	1	0	1	81	701	0	135	0	6.555376e-01	0	21	0	135	2		0	0	0	0	0	2	1	1	80	685	0	134	2								-19.999980	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999052	0.990000	1	9.900000e-01	1
LILRA2	11027	broad.mit.edu	37	19	55086784	55086784	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086784C>A	ENST00000251377.3	+	6	850	c.717C>A	c.(715-717)agC>agA	p.S239R	LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2			50					CCGGGGAGAGCCTGACCCTCC	0.577000																								0							SO:0001583	missense			ENST00000251377.3	1	1	hg19	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	5.286	0.238185	0.10023	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59	2.11	-1.96	0.07525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.810500	0.03188	N	0.172960	T	0.01254	0.0041	L	0.48877	1.53	0.09310	N	1	B;B;B;B	0.22541	0.071;0.003;0.006;0.001	B;B;B;B	0.25759	0.063;0.014;0.014;0.005	T	0.47749	-0.9093	10	0.49607	T	0.09	.	3.4604	0.07531	0.0:0.5:0.2107:0.2894	.	239;227;239;239	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	239;239;239;239;227	ENSP00000388131:S239R;ENSP00000251377:S239R;ENSP00000375618:S239R;ENSP00000251376:S239R;ENSP00000375617:S227R	ENSP00000251376:S239R	S	+	3	2	LILRA2	59778596	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.865000	0.04250	-0.361000	0.08125	-1.294000	0.01345	AGC		TCGA-IB-7651-01A-11D-2154-08	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2	1	0	1	105	456	0	120	0	9.340124e-01	0	21	0	120	2		0	0	0	0	0	2	1	1	103	445	0	120	2								-2.694740	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIR2DL3	3804	broad.mit.edu	37	19	55263116	55263116	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55263116T>C	ENST00000342376.3	+	6	762	c.731T>C	c.(730-732)cTg>cCg	p.L244P	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3			21					CCCAGACACCTGCATGTTCTG	0.438000																								0							SO:0001583	missense			ENST00000342376.3	1	1	hg19	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	T	5.182	0.219131	0.09863	.	.	ENSG00000243772	ENST00000342376	T	0.00542	6.69	0.635	0.635	0.17723	.	.	.	.	.	T	0.02888	0.0086	H	0.94698	3.57	0.09310	N	1	P;D;D;D	0.89917	0.568;0.991;1.0;1.0	B;D;D;D	0.91635	0.355;0.991;0.999;0.999	T	0.14952	-1.0454	8	0.87932	D	0	.	.	.	.	.	244;146;244;244	E3NZD7;P43628-2;P43628;E3NZD8	.;.;KI2L3_HUMAN;.	P	244	ENSP00000342215:L244P	ENSP00000342215:L244P	L	+	2	0	KIR2DL3	59954928	0.001000	0.12720	0.004000	0.12327	0.012000	0.07955	0.104000	0.15313	0.516000	0.28340	0.248000	0.18094	CTG		TCGA-IB-7651-01A-11D-2154-08	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1	0	0	0	36	879	0	153	0	2.235350e-02	0	6	0	153	2		0	0	0	0	0	2	1	1	32	790	0	161	2								-4.120396	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.480000	0.330000	1.000000	0.470000	0.548201	0.480000	0	4.000000e-01	6.300000e-01
FCAR	2204	broad.mit.edu	37	19	55401222	55401222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55401222G>A	ENST00000355524.3	+	5	867	c.857G>A	c.(856-858)tGc>tAc	p.C286Y	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y|FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for			24					CCAAGTGTCTGCAAGTAAACA	0.522000																								0							SO:0001583	missense			ENST00000355524.3	1	1	hg19	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532216	0.27387	.	.	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.03831	3.79;6.83;6.46;4.79;6.52;6.65;6.32	2.46	-4.92	0.03075	.	.	.	.	.	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	D;D;P;D;D;P;D	0.65815	0.995;0.98;0.654;0.99;0.98;0.483;0.976	D;D;B;P;D;B;D	0.72982	0.979;0.962;0.254;0.781;0.962;0.118;0.923	T	0.12811	-1.0533	9	0.87932	D	0	.	3.4708	0.07566	0.1373:0.1611:0.5515:0.1502	.	177;252;178;274;264;190;286	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	Y	178;286;264;190;177;274;252	ENSP00000375606:C178Y;ENSP00000347714:C286Y;ENSP00000375605:C264Y;ENSP00000338257:C190Y;ENSP00000338058:C177Y;ENSP00000352218:C274Y;ENSP00000375604:C252Y	ENSP00000338257:C190Y	C	+	2	0	FCAR	60093034	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.608000	0.02068	-1.199000	0.02666	-0.262000	0.10625	TGC		TCGA-IB-7651-01A-11D-2154-08	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	1	0	0	113	477	0	120	0	9.714401e-02	0	3	0	120	2		0	0	0	0	0	2	1	1	112	471	0	120	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCR1	9437	broad.mit.edu	37	19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55423572C>T	ENST00000291890.4	+	6	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1			18					ACCACAGAGACGGGACTCCAG	0.512000																								0							SO:0001583	missense			ENST00000291890.4	1	1	hg19	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	NCR1	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG		TCGA-IB-7651-01A-11D-2154-08	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1	0	0	1	89	423	0	132	0	8.178586e-02	0	3	0	132	2		0	0	0	0	0	2	1	1	87	415	0	132	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP7	199713	broad.mit.edu	37	19	55451160	55451160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451160C>A	ENST00000590030.1	-	3	1067	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	NLRP7_ENST00000446217.1_Missense_Mutation_p.A371S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A343S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S|NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S|NLRP7_ENST00000328092.5_Missense_Mutation_p.A343S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7			73					GCACGCATGGCTTGGTCCTCG	0.617000																								0							SO:0001583	missense			ENST00000590030.1	0	1	hg19	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649372	0.47362	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	2.19	-0.0395	0.13875	NACHT nucleoside triphosphatase (1);	0.000000	0.31976	N	0.006779	D	0.84584	0.5504	M	0.72353	2.195	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.73132	-0.4079	10	0.52906	T	0.07	.	4.9523	0.14021	0.0:0.6391:0.2201:0.1409	.	371;343;343;343	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	S	343;343;343;371;110	ENSP00000329568:A343S;ENSP00000409137:A343S;ENSP00000339491:A343S;ENSP00000414273:A371S	ENSP00000329568:A343S	A	-	1	0	NLRP7	60142972	0.988000	0.35896	0.000000	0.03702	0.006000	0.05464	3.733000	0.55029	0.056000	0.16144	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	0	0	0	58	234	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	45	164	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP7	199713	broad.mit.edu	37	19	55451411	55451411	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451411T>C	ENST00000590030.1	-	3	816	c.776A>G	c.(775-777)aAa>aGa	p.K259R	NLRP7_ENST00000446217.1_Missense_Mutation_p.K287R|NLRP7_ENST00000588756.1_Missense_Mutation_p.K259R|NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R|NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R|NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7			73					AGGTGGGACTTTCAGCTCATC	0.552000																								0							SO:0001583	missense			ENST00000590030.1	1	1	hg19	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.611732	0.00835	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	1.76	-2.71	0.05986	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.44095	0.1277	N	0.01250	-0.93	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14023	0.007;0.01;0.01;0.004	T	0.35992	-0.9766	9	0.15066	T	0.55	.	7.2761	0.26286	0.0:0.3325:0.0:0.6675	.	287;259;259;259	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	259;259;259;287	ENSP00000329568:K259R;ENSP00000409137:K259R;ENSP00000339491:K259R;ENSP00000414273:K287R	ENSP00000329568:K259R	K	-	2	0	NLRP7	60143223	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.213000	0.17521	-0.742000	0.04790	-0.609000	0.04063	AAA		TCGA-IB-7651-01A-11D-2154-08	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	1	0	1	116	515	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	113	509	1	124	17								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP2	55655	broad.mit.edu	37	19	55494232	55494232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55494232C>T	ENST00000543010.1	+	6	1309	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2			11			BRCA - Breast invasive adenocarcinoma(297;0.163)		AGGAGCAACGCGGCCCTGTTC	0.632000																								0							SO:0001583	missense			ENST00000543010.1	1	1	hg19	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095492	0.36952	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74209	-0.77;-0.71;-0.71;-0.77;-0.71;-0.82;-0.71;-0.77	1.64	-0.74	0.11115	NACHT nucleoside triphosphatase (1);	0.883995	0.09194	N	0.835623	T	0.76983	0.4064	L	0.58101	1.795	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	P;D;D;P;P	0.64410	0.892;0.925;0.91;0.885;0.862	T	0.62704	-0.6798	10	0.56958	D	0.05	.	0.7271	0.00951	0.2404:0.3548:0.2375:0.1672	.	366;367;386;365;389	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	389;365;367;389;367;366;365;386	ENSP00000445135:A389V;ENSP00000375601:A365V;ENSP00000344074:A367V;ENSP00000409370:A389V;ENSP00000440601:A367V;ENSP00000402474:A366V;ENSP00000441133:A365V;ENSP00000263437:A386V	ENSP00000263437:A386V	A	+	2	0	NLRP2	60186044	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.538000	0.23160	-0.102000	0.12197	-0.265000	0.10407	GCG		TCGA-IB-7651-01A-11D-2154-08	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	1	0	0	59	228	0	51	0	2.789736e-01	0	5	0	51	2		0	0	0	0	0	2	1	1	48	196	0	63	2								-20.000000	1	1	121406	1	30	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP2	55655	broad.mit.edu	37	19	55501543	55501543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55501543C>T	ENST00000543010.1	+	9	2663	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000538819.1_Silent_p.C816C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000391721.4_Silent_p.C816C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2			11			BRCA - Breast invasive adenocarcinoma(297;0.163)		ACCCCAAGTGCTTTCTGCAGA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000543010.1	1	1	hg19	CCDS12913.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	1	0	1	82	322	0	59	0	6.344147e-01	0	10	0	59	2		0	0	0	0	0	2	1	1	80	314	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GP6	51206	broad.mit.edu	37	19	55543732	55543732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55543732G>A	ENST00000417454.1	-	3	127	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.P34S|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.6_ENST00000585492.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)			19			BRCA - Breast invasive adenocarcinoma(297;0.156)		AGGGAGCTGGGCAGAGCCTGG	0.706000																								0							SO:0001583	missense			ENST00000417454.1	1	1	hg19	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396014	0.62177	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.12879	2.64;2.64;2.64	3.96	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35128	0.0921	M	0.78285	2.405	0.26996	N	0.965039	D;P;D	0.65815	0.987;0.709;0.995	P;P;D	0.63597	0.766;0.663;0.916	T	0.07290	-1.0780	9	0.87932	D	0	.	11.6946	0.51536	0.0:0.0:1.0:0.0	.	34;34;34	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	S	34	ENSP00000394922:P34S;ENSP00000308782:P34S;ENSP00000334552:P34S	ENSP00000308782:P34S	P	-	1	0	GP6	60235544	0.910000	0.30920	0.196000	0.23383	0.956000	0.61745	3.954000	0.56708	2.234000	0.73211	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1	1	0	1	37	151	0	30	0	0	0	1	0	30	2		0	0	0	0	0	2	1	1	36	149	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPS8L1	54869	broad.mit.edu	37	19	55589480	55589480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55589480C>T	ENST00000201647.6	+	3	98	c.42C>T	c.(40-42)agC>agT	p.S14S	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1			12			BRCA - Breast invasive adenocarcinoma(297;0.209)		CAAAGCCAAGCGCCAAGTCTA	0.577000													Ovarian(149;255 1863 3636 27051 29647)											0							SO:0001819	synonymous_variant			ENST00000201647.6	1	1	hg19	CCDS12914.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	1	0	0	39	183	0	28	1	9.989254e-01	9	44	0	28	2		0	0	0	0	0	2	1	1	39	177	0	28	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPS8L1	54869	broad.mit.edu	37	19	55591075	55591075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55591075C>A	ENST00000201647.6	+	5	191	c.135C>A	c.(133-135)tgC>tgA	p.C45*	EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*|EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1			12			BRCA - Breast invasive adenocarcinoma(297;0.209)		TGACGTTCTGCCTGGGTGAGG	0.587000													Ovarian(149;255 1863 3636 27051 29647)											0							SO:0001587	stop_gained			ENST00000201647.6	0	1	hg19	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749039	0.96882	.	.	ENSG00000131037	ENST00000310075;ENST00000201647	.	.	.	3.85	2.8	0.32819	.	0.439105	0.21813	N	0.068738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-22.1609	5.0513	0.14511	0.2046:0.6818:0.0:0.1136	.	.	.	.	X	27;45	.	ENSP00000201647:C45X	C	+	3	2	EPS8L1	60282887	0.159000	0.22864	0.999000	0.59377	0.838000	0.47535	0.283000	0.18846	0.732000	0.32470	0.313000	0.20887	TGC		TCGA-IB-7651-01A-11D-2154-08	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	1	0	1	33	172	0	51	1	9.961616e-01	7	41	0	51	2		0	0	0	0	0	2	1	1	33	169	0	48	2								-3.358497	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
PPP1R12C	54776	broad.mit.edu	37	19	55607246	55607246	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55607246T>C	ENST00000263433.3	-	9	1231	c.1216A>G	c.(1216-1218)Aag>Gag	p.K406E	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C			22			BRCA - Breast invasive adenocarcinoma(297;0.209)		ACGGGACTCTTAGGGCTGGGG	0.632000																								0							SO:0001583	missense			ENST00000263433.3	1	1	hg19	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978693	0.18812	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.67171	-0.11;-0.13;-0.25	4.08	-6.62	0.01813	.	1.460060	0.04373	N	0.359422	T	0.53077	0.1774	L	0.42245	1.32	0.09310	N	1	B;B;B	0.17038	0.02;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.0	T	0.35773	-0.9775	10	0.30078	T	0.28	.	8.0384	0.30506	0.0:0.2738:0.5401:0.186	.	332;406;406	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	E	406;406;332	ENSP00000263433:K406E;ENSP00000365573:K406E;ENSP00000387833:K332E	ENSP00000263433:K406E	K	-	1	0	PPP1R12C	60299058	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.092000	0.03366	-1.227000	0.02571	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	1	0	1	145	590	0	88	1	1	43	141	0	88	2		0	0	0	0	0	2	1	1	133	555	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R12C	54776	broad.mit.edu	37	19	55623837	55623837	+	Missense_Mutation	SNP	C	C	T	rs143271686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55623837C>T	ENST00000263433.3	-	3	584	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C			22			BRCA - Breast invasive adenocarcinoma(297;0.209)		GAGCCCACCTCGGCGGGCGAT	0.697000																								0							SO:0001583	missense			ENST00000263433.3	1	1	hg19	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102327	0.08731	2.27E-4	0.001512	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.52057	0.68;0.68;0.68	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.161907	0.42821	D	0.000641	T	0.20659	0.0497	N	0.04768	-0.165	0.38669	D	0.952273	P;P;P	0.48834	0.916;0.785;0.821	B;B;B	0.41088	0.347;0.197;0.298	T	0.33085	-0.9882	10	0.02654	T	1	.	9.0177	0.36179	0.0:0.9012:0.0:0.0988	.	116;190;190	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	Q	190;190;116	ENSP00000263433:R190Q;ENSP00000365573:R190Q;ENSP00000387833:R116Q	ENSP00000263433:R190Q	R	-	2	0	PPP1R12C	60315649	1.000000	0.71417	0.997000	0.53966	0.481000	0.33189	2.806000	0.47947	2.633000	0.89246	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	0	0	1	33	124	0	33	1	9.999983e-01	13	72	0	33	2		0	0	0	0	0	2	1	1	32	119	0	30	2								-2.743887	1	1	121300	103	48	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNNI3	7137	broad.mit.edu	37	19	55663256	55663256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663256C>A	ENST00000344887.5	-	8	721	c.579G>T	c.(577-579)aaG>aaT	p.K193N	TNNT1_ENST00000592920.1_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)			12			BRCA - Breast invasive adenocarcinoma(297;0.209)		CATCGATGTTCTTGCGCCAGT	0.557000																								0							SO:0001583	missense			ENST00000344887.5	1	1	hg19	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799476	0.70567	.	.	ENSG00000129991	ENST00000344887	D	0.98028	-4.67	4.46	2.3	0.28687	.	0.000000	0.64402	D	0.000005	D	0.98343	0.9450	M	0.82823	2.61	0.52099	D	0.999948	D	0.71674	0.998	D	0.78314	0.991	D	0.98117	1.0423	10	0.87932	D	0	-28.5851	10.1277	0.42661	0.0:0.8274:0.0:0.1726	.	193	P19429	TNNI3_HUMAN	N	193	ENSP00000341838:K193N	ENSP00000341838:K193N	K	-	3	2	TNNI3	60355068	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.068000	0.50018	0.447000	0.26695	-0.424000	0.05967	AAG		TCGA-IB-7651-01A-11D-2154-08	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	1	55	199	0	54	1	9.999018e-01	29	24	0	54	2		0	0	0	0	0	2	1	1	54	194	0	53	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNNI3	7137	broad.mit.edu	37	19	55663261	55663261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663261G>A	ENST00000344887.5	-	8	716	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNNT1_ENST00000592920.1_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)			12			BRCA - Breast invasive adenocarcinoma(297;0.209)		ATGTTCTTGCGCCAGTCTCCC	0.572000																								0							SO:0001583	missense			ENST00000344887.5	1	1	hg19	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635841	0.67130	.	.	ENSG00000129991	ENST00000344887	D	0.98120	-4.73	4.46	3.3	0.37823	.	0.000000	0.64402	D	0.000017	D	0.98460	0.9487	M	0.84433	2.695	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.98378	1.0557	10	0.87932	D	0	-7.0285	11.1792	0.48618	0.0:0.0:0.7079:0.2921	.	192	P19429	TNNI3_HUMAN	C	192	ENSP00000341838:R192C	ENSP00000341838:R192C	R	-	1	0	TNNI3	60355073	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.153000	0.16323	2.213000	0.71641	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	1	52	193	0	54	1	9.999379e-01	29	28	0	54	2		0	0	0	0	0	2	1	1	52	189	0	53	2								-3.848245	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNNI3	7137	broad.mit.edu	37	19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)			12			BRCA - Breast invasive adenocarcinoma(297;0.209)		CACTCACCTTCTCGGTGTCCT	0.622000																								0							SO:0001583	missense			ENST00000344887.5	1	1	hg19	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374201	0.42105	.	.	ENSG00000129991	ENST00000344887	D	0.94862	-3.54	4.72	3.67	0.42095	.	0.379769	0.24211	N	0.040530	D	0.88880	0.6557	L	0.31752	0.955	0.45250	D	0.998251	B	0.02656	0.0	B	0.01281	0.0	D	0.84146	0.0420	10	0.52906	T	0.07	-10.4701	7.9263	0.29876	0.0:0.7478:0.1621:0.0902	.	182	P19429	TNNI3_HUMAN	D	182	ENSP00000341838:E182D	ENSP00000341838:E182D	E	-	3	2	TNNI3	60357213	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.445000	0.44899	1.103000	0.41568	0.585000	0.79938	GAG		TCGA-IB-7651-01A-11D-2154-08	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	1	110	468	0	114	1	9.999906e-01	36	36	0	114	2		0	0	0	0	0	2	1	1	106	452	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNNI3	7137	broad.mit.edu	37	19	55668952	55668952	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55668952C>T	ENST00000344887.5	-	1	148	c.6G>A	c.(4-6)gcG>gcA	p.A2A	DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)			12			BRCA - Breast invasive adenocarcinoma(297;0.209)		CTCACCCATCCGCCATGCTGA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000344887.5	1	1	hg19	CCDS42628.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1	0	0	1	172	712	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1	168	699	0	144	2								-3.032350	1	1	120914	3	42	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT5	6861	broad.mit.edu	37	19	55687085	55687085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687085C>T	ENST00000354308.3	-	5	901	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V			18			BRCA - Breast invasive adenocarcinoma(297;0.209)		ACCTTGAAGGCGAAGGTCTCC	0.627000																								0							SO:0001583	missense			ENST00000354308.3	1	1	hg19	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727184	0.15439	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.67698	-0.28;-0.28	4.54	3.41	0.39046	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.319059	0.33199	N	0.005177	T	0.22859	0.0552	N	0.00595	-1.35	0.32241	N	0.572744	B;B;B	0.21753	0.047;0.06;0.008	B;B;B	0.20955	0.032;0.005;0.01	T	0.46569	-0.9182	10	0.02654	T	1	.	3.4824	0.07607	0.2164:0.5961:0.0:0.1876	.	175;178;178	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	T	178;178;175	ENSP00000442896:A178T;ENSP00000346265:A178T	ENSP00000346265:A178T	A	-	1	0	SYT5	60378897	0.910000	0.30920	0.990000	0.47175	0.955000	0.61496	1.263000	0.33004	2.480000	0.83734	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	1	0	1	66	375	0	108	0	1.119371e-01	0	4	0	108	2		0	0	0	0	0	2	1	1	66	366	0	105	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT5	6861	broad.mit.edu	37	19	55689710	55689710	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55689710C>T	ENST00000354308.3	-	3	475	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	SYT5_ENST00000537500.1_Missense_Mutation_p.V36M|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V			18			BRCA - Breast invasive adenocarcinoma(297;0.209)		GAGACCAGCACGATGGTGGCC	0.617000																								0							SO:0001583	missense			ENST00000354308.3	0	1	hg19	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969891	0.53614	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.55413	0.52;0.52	4.06	-4.23	0.03789	.	0.438834	0.23508	N	0.047428	T	0.26484	0.0647	N	0.24115	0.695	0.32416	N	0.549983	B;P	0.46987	0.275;0.888	B;B	0.38842	0.016;0.283	T	0.38200	-0.9672	10	0.46703	T	0.11	.	4.6511	0.12596	0.1177:0.2183:0.5288:0.1352	.	36;36	Q4FD32;O00445	.;SYT5_HUMAN	M	36	ENSP00000442896:V36M;ENSP00000346265:V36M	ENSP00000346265:V36M	V	-	1	0	SYT5	60381522	0.030000	0.19436	0.904000	0.35570	0.929000	0.56500	-0.074000	0.11450	-0.275000	0.09219	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	1	0	0	18	90	0	9	0	8.169533e-02	1	2	0	9	2		0	0	0	0	0	2	1	9.999869e-01	18	87	0	9	2								-20.000000	1	1	121374	3	28	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999751	0.990000	1	9.900000e-01	1
PTPRH	5794	broad.mit.edu	37	19	55696921	55696921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55696921C>T	ENST00000376350.3	-	18	3033	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H			67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)		CAGCCACTGCCGAAGCATCCT	0.627000																								0							SO:0001583	missense			ENST00000376350.3	1	1	hg19	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568486	0.65651	2.27E-4	0.0	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.84070	-1.8;-1.8	5.21	4.18	0.49190	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.280866	0.19786	N	0.106116	D	0.86197	0.5875	L	0.37466	1.105	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.77557	0.987;0.99	D	0.86387	0.1733	10	0.56958	D	0.05	.	13.0867	0.59144	0.0:0.9202:0.0:0.0798	.	826;1004	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	1004;826	ENSP00000365528:R1004Q;ENSP00000263434:R826Q	ENSP00000263434:R826Q	R	-	2	0	PTPRH	60388733	0.090000	0.21635	0.040000	0.18447	0.275000	0.26752	2.734000	0.47368	1.357000	0.45904	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1	28	192	0	48	1	9.997808e-01	31	62	0	48	2		0	0	0	0	0	2	1	1	28	190	0	46	2								-3.019007	1	1	121412	1	30	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999160	0.990000	1	9.900000e-01	1
PTPRH	5794	broad.mit.edu	37	19	55708507	55708507	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708507C>T	ENST00000376350.3	-	9	1990	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	PTPRH_ENST00000263434.5_Silent_p.T478T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H			67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)		AGAGGCTCTGCGTGGAACTGG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000376350.3	1	1	hg19	CCDS33110.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1	37	167	0	55	1	9.999402e-01	27	44	0	55	2		0	0	0	0	0	2	1	1	35	164	0	55	2								-19.993130	1	1	121412	4	39	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRH	5794	broad.mit.edu	37	19	55708767	55708767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708767C>T	ENST00000376350.3	-	9	1730	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H			67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)		TTCTGGAGATCTGTGACCTCA	0.557000																								0							SO:0001583	missense			ENST00000376350.3	1	1	hg19	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133908	0.09032	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.52057	0.68;0.68	4.94	-3.87	0.04218	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24122	0.0584	L	0.39020	1.185	0.09310	N	1	B;B;B	0.19331	0.003;0.002;0.035	B;B;B	0.18871	0.01;0.004;0.023	T	0.34675	-0.9819	9	0.05620	T	0.96	.	1.3223	0.02118	0.128:0.3414:0.2322:0.2984	.	392;392;570	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	N	570;392	ENSP00000365528:D570N;ENSP00000263434:D392N	ENSP00000263434:D392N	D	-	1	0	PTPRH	60400579	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.170000	0.09897	-0.451000	0.07097	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	0	19	369	0	84	1	9.395121e-01	9	85	0	84	2		0	0	0	0	0	2	1	9.999893e-01	19	360	0	84	2								-3.325361	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.610000	0.370000	1.000000	0.570000	0.657081	0.610000	0	4.800000e-01	8.700000e-01
PTPRH	5794	broad.mit.edu	37	19	55713637	55713637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55713637C>T	ENST00000376350.3	-	6	962	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H			67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)		CAGGTCAGGGCGATGGAGCTG	0.582000																								0							SO:0001583	missense			ENST00000376350.3	1	1	hg19	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.534429	0.00145	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.54479	0.57;0.57	3.89	-1.5	0.08691	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19485	0.0468	N	0.03154	-0.405	0.09310	N	1	B;B;B	0.16396	0.004;0.003;0.017	B;B;B	0.12837	0.008;0.003;0.004	T	0.25847	-1.0120	9	0.02654	T	1	.	4.4153	0.11454	0.1487:0.1943:0.0:0.657	.	136;136;314	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	T	314;136	ENSP00000365528:A314T;ENSP00000263434:A136T	ENSP00000263434:A136T	A	-	1	0	PTPRH	60405449	0.751000	0.28327	0.088000	0.20740	0.011000	0.07611	0.629000	0.24538	-0.434000	0.07275	-2.769000	0.00120	GCC		TCGA-IB-7651-01A-11D-2154-08	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	1	0	1	62	341	0	90	1	9.991515e-01	24	36	0	90	2		0	0	0	0	0	2	1	1	60	334	0	90	2								-20.000000	1	1	121412	4	40	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPBP1	23640	broad.mit.edu	37	19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55777302C>T	ENST00000255631.5	-	7	1155	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1			8			BRCA - Breast invasive adenocarcinoma(297;0.209)		GTGCTCTGTCCGCACCAGGGC	0.687000																								0							SO:0001583	missense			ENST00000255631.5	0	1	hg19	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.640143	0.47153	.	.	ENSG00000133265	ENST00000433386;ENST00000255631	T;T	0.50548	0.74;0.74	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.201340	0.43110	D	0.000614	T	0.46619	0.1402	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.086	P;B	0.55545	0.778;0.004	T	0.26710	-1.0095	10	0.10377	T	0.69	-5.7405	15.7097	0.77615	0.0:1.0:0.0:0.0	.	285;328	Q9NZL4;B4DG11	HPBP1_HUMAN;.	Q	282	ENSP00000398244:R282Q;ENSP00000255631:R282Q	ENSP00000255631:R282Q	R	-	2	0	HSPBP1	60469114	1.000000	0.71417	0.957000	0.39632	0.983000	0.72400	2.363000	0.44178	2.058000	0.61347	0.486000	0.48141	CGG		TCGA-IB-7651-01A-11D-2154-08	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	1	0	1	8	80	0	11	1	9.998944e-01	29	180	0	11	2		0	0	0	0	0	2	1	9.904951e-01	8	80	0	11	2								-3.224258	1	1	120982	3	30	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.540000	1.000000	1.000000	0.931384	0.990000	1	8.000000e-01	1
BRSK1	84446	broad.mit.edu	37	19	55805718	55805718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55805718C>T	ENST00000309383.1	+	7	908	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W|BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1			48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)		TGATGGCCGCCGGGCAGACAT	0.592000																								0							SO:0001583	missense			ENST00000309383.1	1	1	hg19	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050648	0.75960	.	.	ENSG00000160469	ENST00000309383	T	0.26223	1.75	4.79	2.43	0.29744	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.41811	0.1175	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.972	T	0.39035	-0.9633	10	0.87932	D	0	.	12.2446	0.54563	0.3075:0.6925:0.0:0.0	.	211;227	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	211	ENSP00000310649:R211W	ENSP00000310649:R211W	R	+	1	2	BRSK1	60497530	0.966000	0.33281	1.000000	0.80357	0.967000	0.64934	0.456000	0.21859	1.117000	0.41842	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	1	0	1	40	156	0	52	0	7.729368e-01	0	13	0	52	2		0	0	0	0	0	2	1	1	39	147	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM150B	284417	broad.mit.edu	37	19	55824302	55824302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55824302G>T	ENST00000326652.4	-	8	809	c.627C>A	c.(625-627)tgC>tgA	p.C209*	TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B			3					CACACAGGGTGCAGCTCTCCA	0.692000																								0							SO:0001587	stop_gained			ENST00000326652.4	0	1	hg19	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839759	0.51057	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	.	.	.	4.55	2.4	0.29515	.	0.319446	0.33854	N	0.004487	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-31.8358	7.383	0.26866	0.2106:0.0:0.7894:0.0	.	.	.	.	X	209	.	ENSP00000320757:C209X	C	-	3	2	TMEM150B	60516114	0.498000	0.26075	0.996000	0.52242	0.190000	0.23558	0.360000	0.20250	0.622000	0.30249	-0.350000	0.07774	TGC		TCGA-IB-7651-01A-11D-2154-08	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	1	0	1	24	95	0	26	1	9.998913e-01	29	34	0	26	2		0	0	0	0	0	2	1	9.999999e-01	24	94	0	25	2								-20.000000	1	1	121084	1	24	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
SUV420H2	84787	broad.mit.edu	37	19	55853326	55853326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55853326G>T	ENST00000255613.3	+	2	270	c.22G>T	c.(22-24)Gca>Tca	p.A8S	SUV420H2_ENST00000402499.4_3'UTR|AC020922.1_ENST00000539076.1_5'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)			4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)		CAGAGTGACAGCACGAGAACT	0.652000																								0							SO:0001583	missense			ENST00000255613.3	1	1	hg19	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841318	0.71488	.	.	ENSG00000133247	ENST00000255613;ENST00000402499	.	.	.	3.35	2.29	0.28610	.	0.100342	0.38436	N	0.001683	T	0.63355	0.2504	L	0.39147	1.195	0.44694	D	0.997688	D	0.67145	0.996	D	0.65874	0.939	T	0.64715	-0.6342	9	0.59425	D	0.04	0.7173	11.485	0.50348	0.0:0.0:0.8176:0.1823	.	8	Q86Y97	SV422_HUMAN	S	8	.	ENSP00000255613:A8S	A	+	1	0	SUV420H2	60545138	1.000000	0.71417	0.964000	0.40570	0.765000	0.43378	7.043000	0.76572	0.945000	0.37605	-0.311000	0.09066	GCA		TCGA-IB-7651-01A-11D-2154-08	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	1	0	1	110	500	0	113	1	9.790615e-01	9	21	0	113	2		0	0	0	0	0	2	1	1	108	492	0	112	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUV420H2	84787	broad.mit.edu	37	19	55857588	55857588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55857588C>A	ENST00000255613.3	+	7	826	c.578C>A	c.(577-579)cCt>cAt	p.P193H		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)			4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)		CAGTTTGTGCCTGCAGATGGG	0.667000																								0							SO:0001583	missense			ENST00000255613.3	1	1	hg19	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615474	0.66672	.	.	ENSG00000133247	ENST00000255613	D	0.86694	-2.16	3.93	3.93	0.45458	SET domain (3);	0.000000	0.64402	D	0.000016	D	0.91526	0.7324	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.91151	0.4953	10	0.41790	T	0.15	-17.7373	15.2907	0.73865	0.0:1.0:0.0:0.0	.	193	Q86Y97	SV422_HUMAN	H	193	ENSP00000255613:P193H	ENSP00000255613:P193H	P	+	2	0	SUV420H2	60549400	0.935000	0.31712	0.902000	0.35471	0.572000	0.35998	7.140000	0.77322	2.186000	0.69663	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	1	0	1	73	341	0	81	1	8.502515e-01	11	7	0	81	2		0	0	0	0	0	2	1	1	73	335	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL28	6158	broad.mit.edu	37	19	55899621	55899621	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55899621G>A	ENST00000344063.2	+	5	964	c.335G>A	c.(334-336)cGc>cAc	p.R112H	RPL28_ENST00000558815.1_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000560583.1_3'UTR			P46779	RL28_HUMAN	ribosomal protein L28			6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)		GCAGCCATCCGCAGGGCCAGC	0.667000																								0							SO:0001583	missense			ENST00000344063.2	0	1	hg19	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577856	0.65878	.	.	ENSG00000108107	ENST00000344063	T	0.46819	0.86	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.74467	2.265	0.80722	D	1	B	0.25235	0.121	B	0.25405	0.06	T	0.56535	-0.7963	10	0.56958	D	0.05	.	13.1887	0.59697	0.0:0.0:1.0:0.0	.	112	P46779	RL28_HUMAN	H	112	ENSP00000342787:R112H	ENSP00000342787:R112H	R	+	2	0	RPL28	60591433	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.890000	0.92477	1.864000	0.54056	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	1	0	0	11	48	0	8	1	1	1353	3771	0	8	2		0	0	0	0	0	2	1	9.984819e-01	11	45	0	8	2								-19.939900	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.998935	0.990000	1	9.900000e-01	1
UBE2S	27338	broad.mit.edu	37	19	55913000	55913000	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55913000G>A	ENST00000264552.9	-	4	660	c.473C>T	c.(472-474)gCc>gTc	p.A158V	CTD-2105E13.13_ENST00000589101.1_lincRNA|RPL28_ENST00000560055.1_Intron|UBE2S_ENST00000592570.1_5'Flank	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S			1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)		GGGCCCGCCGGCGCCCCCGTG	0.731000																								0							SO:0001583	missense			ENST00000264552.9	0	1	hg19	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414335	0.25465	.	.	ENSG00000108106	ENST00000264552	T	0.58797	0.31	4.24	4.24	0.50183	Ubiquitin-conjugating enzyme/RWD-like (1);	0.230253	0.44688	D	0.000439	T	0.39600	0.1084	N	0.12569	0.235	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.23440	-1.0188	10	0.33940	T	0.23	-17.454	14.5214	0.67853	0.0:0.0:1.0:0.0	.	158	Q16763	UBE2S_HUMAN	V	158	ENSP00000264552:A158V	ENSP00000264552:A158V	A	-	2	0	UBE2S	60604812	0.556000	0.26538	0.117000	0.21633	0.156000	0.22039	4.405000	0.59741	2.095000	0.63458	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	1	0	0	24	100	0	17	1	8.395896e-01	9	7	0	17	2		0	0	0	0	0	2	1	9.999997e-01	21	95	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
SAFB2	9667	broad.mit.edu	37	19	5592849	5592849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5592849G>A	ENST00000252542.4	-	16	2521	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2			29					GCACGATATCGGTCCTCCATT	0.507000													Ovarian(127;888 1728 23957 44128 52668)											0							SO:0001587	stop_gained			ENST00000252542.4	0	1	hg19	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.247483	0.97412	.	.	ENSG00000130254	ENST00000252542	.	.	.	4.7	2.52	0.30459	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.424	12.9125	0.58187	0.0:0.0:0.5736:0.4264	.	.	.	.	X	753	.	ENSP00000252542:R753X	R	-	1	2	SAFB2	5543849	0.784000	0.28713	0.872000	0.34217	0.114000	0.19823	0.052000	0.14163	0.155000	0.19261	-0.364000	0.07487	CGA		TCGA-IB-7651-01A-11D-2154-08	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	0	0	0	10	229	0	30	0	9.597113e-01	1	128	0	30	2		0	0	0	0	0	2	1	9.965031e-01	10	221	0	29	2								-3.176549	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.520000	0.260000	1.000000	0.500000	0.568588	0.520000	0	3.700000e-01	7.500000e-01
ISOC2	79763	broad.mit.edu	37	19	55964733	55964733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55964733G>A	ENST00000425675.2	-	6	620	c.560C>T	c.(559-561)cCc>cTc	p.P187L	ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L|ISOC2_ENST00000438389.2_Missense_Mutation_p.P117L			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		GTCTGGGGCGGGCTCCTTGAT	0.602000																								0							SO:0001583	missense			ENST00000425675.2	1	1	hg19	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854128	0.51270	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.59	4.59	0.56863	Isochorismatase-like (2);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	N	0.17474	0.49	0.80722	D	1	B;B;B	0.29766	0.144;0.256;0.165	B;B;B	0.32928	0.155;0.043;0.044	T	0.42137	-0.9469	9	0.37606	T	0.19	-9.5899	15.2799	0.73773	0.0:0.0:1.0:0.0	.	117;187;203	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	L	203;187;117	.	ENSP00000085068:P203L	P	-	2	0	ISOC2	60656545	1.000000	0.71417	0.932000	0.37286	0.660000	0.38997	8.136000	0.89610	2.275000	0.75901	0.555000	0.69702	CCC		TCGA-IB-7651-01A-11D-2154-08	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	1	0	1	21	108	0	14	1	1	151	328	0	14	2		0	0	0	0	0	2	1	9.999977e-01	21	101	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999860	0.990000	1	9.900000e-01	1
ZNF628	89887	broad.mit.edu	37	19	55992598	55992598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992598C>T	ENST00000598519.1	+	3	591	c.38C>T	c.(37-39)gCg>gTg	p.A13V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A9V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		GCGGACATGGCGCCGGCCTCT	0.692000																								0							SO:0001583	missense			ENST00000598519.1	0	1	hg19	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	12.60	1.987732	0.35036	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.68	2.61	0.31194	.	0.401667	0.17889	U	0.158600	T	0.04497	0.0123	N	0.08118	0	0.23356	N	0.997846	B	0.13594	0.008	B	0.06405	0.002	T	0.37009	-0.9724	10	0.46703	T	0.11	-6.259	9.5362	0.39224	0.0:0.8899:0.0:0.1101	.	9	Q5EBL2	ZN628_HUMAN	V	9	ENSP00000375598:A9V	ENSP00000375598:A9V	A	+	2	0	ZNF628	60684410	0.139000	0.22563	0.978000	0.43139	0.504000	0.33889	0.442000	0.21628	0.876000	0.35872	0.289000	0.19496	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0	13	39	0	9	0	3.859282e-01	1	4	0	9	2		0	0	0	0	0	2	1	9.997642e-01	13	39	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999914	0.990000	1	9.900000e-01	1
ZNF628	89887	broad.mit.edu	37	19	55992868	55992868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992868G>A	ENST00000598519.1	+	3	861	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF628_ENST00000391718.2_Missense_Mutation_p.R99H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		GCCTTCAAGCGCTCCTCTCTG	0.667000																								0							SO:0001583	missense			ENST00000598519.1	0	1	hg19	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	19.05	3.752518	0.69533	.	.	ENSG00000197483	ENST00000391718	T	0.17854	2.25	3.56	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.258407	0.25981	U	0.027075	T	0.20901	0.0503	N	0.13327	0.33	0.36163	D	0.848244	D	0.89917	1.0	D	0.77004	0.989	T	0.13926	-1.0491	10	0.15066	T	0.55	-26.768	13.0316	0.58845	0.0:0.0:1.0:0.0	.	99	Q5EBL2	ZN628_HUMAN	H	99	ENSP00000375598:R99H	ENSP00000375598:R99H	R	+	2	0	ZNF628	60684680	0.006000	0.16342	1.000000	0.80357	0.765000	0.43378	1.379000	0.34340	2.001000	0.58596	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	0	0	0	7	191	0	24	1	2.219202e-01	3	19	0	24	2		0	0	0	0	0	2	1	9.808315e-01	7	190	0	23	2								-9.168823	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.470000	0.200000	1.000000	0.410000	0.537004	0.470000	0	3.100000e-01	8.100000e-01
ZNF628	89887	broad.mit.edu	37	19	55993021	55993021	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55993021C>A	ENST00000598519.1	+	3	1014	c.461C>A	c.(460-462)cCc>cAc	p.P154H	ZNF628_ENST00000391718.2_Missense_Mutation_p.P150H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		CCGGACTGCCCCAAGGCCTTC	0.667000																								0							SO:0001583	missense			ENST00000598519.1	1	1	hg19	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	8.323	0.824725	0.16678	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.62	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.335977	0.21947	U	0.066785	T	0.14056	0.0340	L	0.38531	1.155	0.22842	N	0.998663	D	0.67145	0.996	D	0.64237	0.923	T	0.04333	-1.0959	10	0.72032	D	0.01	-23.133	7.3843	0.26874	0.1768:0.5201:0.3031:0.0	.	150	Q5EBL2	ZN628_HUMAN	H	150	ENSP00000375598:P150H	ENSP00000375598:P150H	P	+	2	0	ZNF628	60684833	0.335000	0.24748	0.996000	0.52242	0.002000	0.02628	0.487000	0.22356	0.355000	0.24131	-1.997000	0.00446	CCC		TCGA-IB-7651-01A-11D-2154-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0	31	185	0	39	1	5.822559e-01	5	8	0	39	2		0	0	0	0	0	2	1	1	31	184	0	38	2								-3.150909	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999910	0.990000	1	9.900000e-01	1
ZNF628	89887	broad.mit.edu	37	19	55994231	55994231	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994231C>T	ENST00000598519.1	+	3	2224	c.1671C>T	c.(1669-1671)cgC>cgT	p.R557R	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Silent_p.R553R			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		GTCGCCACCGCCACGTGCACA	0.701000																								0							SO:0001819	synonymous_variant			ENST00000598519.1	1	1	hg19	CCDS33116.3																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0	44	190	0	32	0	1.679905e-01	1	3	0	32	2		0	0	0	0	0	2	1	1	44	186	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF628	89887	broad.mit.edu	37	19	55994536	55994536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994536G>A	ENST00000598519.1	+	3	2529	c.1976G>A	c.(1975-1977)gGc>gAc	p.G659D	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.G655D			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		CCTGCCGCCGGCCCCCAGCCC	0.726000																								0							SO:0001583	missense			ENST00000598519.1	1	1	hg19	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	11.98	1.800170	0.31869	.	.	ENSG00000197483	ENST00000391718	T	0.02974	4.09	2.47	-0.112	0.13572	.	1.492050	0.05145	U	0.494924	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.21546	0.035	T	0.46762	-0.9168	10	0.62326	D	0.03	-1.864	4.449	0.11611	0.0:0.3508:0.4254:0.2238	.	655	Q5EBL2	ZN628_HUMAN	D	655	ENSP00000375598:G655D	ENSP00000375598:G655D	G	+	2	0	ZNF628	60686348	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.216000	0.32443	0.070000	0.16634	-0.314000	0.08810	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0	16	51	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999501e-01	15	48	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
ZNF628	89887	broad.mit.edu	37	19	55995070	55995070	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995070C>T	ENST00000598519.1	+	3	3063	c.2510C>T	c.(2509-2511)gCg>gTg	p.A837V	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A833V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		CTCCAGCCAGCGCAGGAGGTG	0.657000																								0							SO:0001583	missense			ENST00000598519.1	1	1	hg19	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046309	0.36085	0.0	1.16E-4	ENSG00000197483	ENST00000391718	T	0.09445	2.98	2.92	2.92	0.33932	.	.	.	.	.	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B	0.31125	0.309	B	0.23852	0.049	T	0.25950	-1.0117	9	0.87932	D	0	.	9.4682	0.38826	0.0:1.0:0.0:0.0	.	833	Q5EBL2	ZN628_HUMAN	V	833	ENSP00000375598:A833V	ENSP00000375598:A833V	A	+	2	0	ZNF628	60686882	0.359000	0.24955	0.776000	0.31678	0.778000	0.44026	1.175000	0.31944	1.638000	0.50547	0.450000	0.29827	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	1	114	377	0	90	1	9.411407e-01	4	14	0	90	2		0	0	0	0	0	2	1	1	113	364	0	87	2								-20.000000	1	0	121396	1	32	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF628	89887	broad.mit.edu	37	19	55995119	55995119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995119G>A	ENST00000598519.1	+	3	3112	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Silent_p.T849T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		AAGTAACCACGGTCCAGCTCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000598519.1	1	1	hg19	CCDS33116.3																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	1	78	278	0	68	1	9.917022e-01	7	22	0	68	2		0	0	0	0	0	2	1	1	77	273	0	68	2								-3.727787	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF628	89887	broad.mit.edu	37	19	55995125	55995125	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995125G>A	ENST00000598519.1	+	3	3118	c.2565G>A	c.(2563-2565)caG>caA	p.Q855Q	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Silent_p.Q851Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		CCACGGTCCAGCTCCAGCCAG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000598519.1	1	1	hg19	CCDS33116.3																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0	74	251	0	59	1	9.946242e-01	7	23	0	59	2		0	0	0	0	0	2	1	1	74	246	0	59	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SBK2	646643	broad.mit.edu	37	19	56042645	56042645	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56042645G>A	ENST00000413299.1	-	3	358	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SBK2_ENST00000344158.3_Silent_p.F107F	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2			9					GCCCCACACAGAACTCGTACA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000413299.1	0	1	hg19	CCDS42631.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	1	0	0	11	150	0	16	0	0	0	1	0	16	2		0	0	0	0	0	2	1	9.982325e-01	11	145	0	16	2								-15.519110	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.870000	0.450000	1.000000	1.000000	0.837050	0.870000	1	6.300000e-01	1
FIZ1	84922	broad.mit.edu	37	19	56104155	56104155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56104155G>A	ENST00000221665.3	-	3	1241	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1			11			BRCA - Breast invasive adenocarcinoma(297;0.18)		CCTCCCCGCCGCCCTCACCGT	0.766000																								0							SO:0001819	synonymous_variant			ENST00000221665.3	0	1	hg19	CCDS12928.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	1	0	0	33	129	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	1	30	112	0	7	2								-20.000000	1	1	112210	1	22	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF524	147807	broad.mit.edu	37	19	56113511	56113511	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56113511G>A	ENST00000591046.1	+	1	267	c.33G>A	c.(31-33)tcG>tcA	p.S11S	FIZ1_ENST00000592585.1_5'Flank|ZNF524_ENST00000301073.3_Silent_p.S11S|FIZ1_ENST00000221665.3_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	p.S11S(1)		10			BRCA - Breast invasive adenocarcinoma(297;0.18)		CGTTGCCTTCGCCTTTGCCCG	0.652000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000591046.1	1	1	hg19	CCDS12929.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	1	0	1	98	370	0	76	1	1	33	93	0	76	2		0	0	0	0	0	2	1	1	98	364	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF524	147807	broad.mit.edu	37	19	56114114	56114114	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56114114G>A	ENST00000591046.1	+	1	870	c.636G>A	c.(634-636)acG>acA	p.T212T	ZNF524_ENST00000301073.3_Silent_p.T212T|ZNF865_ENST00000568956.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	p.T212T(1)		10			BRCA - Breast invasive adenocarcinoma(297;0.18)		AGGCCAACACGCTCCGGCGCC	0.706000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000591046.1	1	1	hg19	CCDS12929.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	1	0	1	27	110	0	17	1	9.999964e-01	35	54	0	17	2		0	0	0	0	0	2	1	1	27	107	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CCDC106	29903	broad.mit.edu	37	19	56160870	56160870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56160870G>A	ENST00000586790.1	+	3	1137	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H|CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106			11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)		CTGCAGAAGCGCATCGAGGAC	0.607000																								0							SO:0001583	missense			ENST00000586790.1	1	1	hg19	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717725	0.89205	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.48642	1.525	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	T	0.72147	-0.4378	9	0.66056	D	0.02	-7.3931	14.0108	0.64495	0.0:0.0:1.0:0.0	.	78	Q9BWC9	CC106_HUMAN	H	78	.	ENSP00000309681:R78H	R	+	2	0	CCDC106	60852682	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.256000	0.72473	1.910000	0.55303	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	1	0	1	41	174	0	49	1	9.999996e-01	21	80	0	49	2		0	0	0	0	0	2	1	1	39	172	0	48	2								-20.000000	1	1	121412	2	30	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC106	29903	broad.mit.edu	37	19	56163952	56163952	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56163952A>C	ENST00000586790.1	+	5	1587	c.683A>C	c.(682-684)gAg>gCg	p.E228A	CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|U2AF2_ENST00000308924.4_5'Flank|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106			11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)		GTGGCCCCCGAGAAGCTGGCC	0.662000																								0							SO:0001583	missense			ENST00000586790.1	1	1	hg19	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124616	0.77436	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.54323	1.7	0.58432	D	0.999995	D	0.67145	0.996	D	0.79784	0.993	T	0.71286	-0.4638	9	0.66056	D	0.02	0.0717	11.4314	0.50043	1.0:0.0:0.0:0.0	.	228	Q9BWC9	CC106_HUMAN	A	228	.	ENSP00000309681:E228A	E	+	2	0	CCDC106	60855764	1.000000	0.71417	0.957000	0.39632	0.872000	0.50106	5.552000	0.67281	1.584000	0.49913	0.454000	0.30748	GAG		TCGA-IB-7651-01A-11D-2154-08	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	1	0	0	84	363	0	64	1	9.999840e-01	10	61	0	64	2		0	0	0	0	0	2	1	1	84	352	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
U2AF2	11338	broad.mit.edu	37	19	56172411	56172411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56172411T>C	ENST00000308924.4	+	5	382	c.342T>C	c.(340-342)ggT>ggC	p.G114G	U2AF2_ENST00000450554.2_Silent_p.G114G|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2			21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)		AAGCTGCGGGTCAGATTCCAG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000308924.4	1	1	hg19	CCDS12933.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	0	0	0	12	336	0	79	1	9.996841e-01	34	369	0	79	2		0	0	0	0	0	2	1	9.990264e-01	12	328	0	78	2								-3.141971	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.440000	0.230000	1.000000	0.410000	0.512096	0.440000	0	3.200000e-01	6.800000e-01
EPN1	29924	broad.mit.edu	37	19	56204384	56204384	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56204384G>A	ENST00000270460.6	+	9	1556	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	EPN1_ENST00000411543.2_Silent_p.P501P|EPN1_ENST00000085079.7_Silent_p.P389P|AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1			17		Colorectal(82;0.00244)|Ovarian(87;0.133)			CGGCACTGCCGACCTCCGGGA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000270460.6	1	0	hg19	CCDS46199.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	0	0	1	125	547	0	123	1	1	183	356	0	123	2		0	0	0	0	0	2	1	1	122	534	0	123	2								-20.000000	1	1	120978	4	39	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPN1	29924	broad.mit.edu	37	19	56206203	56206203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56206203C>T	ENST00000270460.6	+	10	1687	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	EPN1_ENST00000411543.2_Missense_Mutation_p.A545V|EPN1_ENST00000085079.7_Missense_Mutation_p.A433V|AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA|AC010525.7_ENST00000589698.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1			17		Colorectal(82;0.00244)|Ovarian(87;0.133)			CCACCTGCAGCCACACCAACT	0.701000																								0							SO:0001583	missense			ENST00000270460.6	1	1	hg19	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793851	0.16327	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15139	2.49;2.49;2.45	4.25	2.07	0.26955	.	0.887707	0.09614	N	0.778490	T	0.05960	0.0155	N	0.02916	-0.46	0.09310	N	0.999997	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.15052	0.001;0.012;0.001;0.001	T	0.42172	-0.9467	10	0.10111	T	0.7	-1.6637	5.5993	0.17345	0.0:0.7411:0.0:0.2589	.	419;545;459;433	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	459;433;419;545	ENSP00000270460:A459V;ENSP00000085079:A433V;ENSP00000406209:A545V	ENSP00000085079:A433V	A	+	2	0	EPN1	60898015	0.000000	0.05858	0.006000	0.13384	0.383000	0.30230	0.040000	0.13905	1.076000	0.40961	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	1	0	0	24	64	0	15	1	1	127	188	0	15	2		0	0	0	0	0	2	1	9.999999e-01	24	62	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP11	204801	broad.mit.edu	37	19	56300721	56300721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56300721G>T	ENST00000589093.1	-	8	2651	c.2558C>A	c.(2557-2559)gCc>gAc	p.A853D	NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D|NLRP11_ENST00000443188.1_Missense_Mutation_p.A853D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11			66		Colorectal(82;0.0002)			AATAACTATGGCAATATATTG	0.408000																								0							SO:0001583	missense			ENST00000589093.1	1	1	hg19	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151332	0.38021	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.58358	0.34;0.34	2.92	-0.783	0.10958	.	.	.	.	.	T	0.74107	0.3673	H	0.94620	3.56	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.98;0.994	T	0.60541	-0.7243	9	0.72032	D	0.01	.	4.9762	0.14142	0.1316:0.4261:0.4424:0.0	.	853;799	P59045;P59045-2	NAL11_HUMAN;.	D	853;799	ENSP00000409898:A853D;ENSP00000353251:A799D	ENSP00000353251:A799D	A	-	2	0	NLRP11	60992533	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.853000	0.27777	-0.047000	0.13423	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	1	0	1	113	555	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	112	548	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP11	204801	broad.mit.edu	37	19	56320642	56320642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56320642C>T	ENST00000589093.1	-	3	1427	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000443188.1_Missense_Mutation_p.R445H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11			66		Colorectal(82;0.0002)			GAACTTGTAACGGTCTTTATG	0.468000																								0							SO:0001583	missense			ENST00000589093.1	1	1	hg19	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	1.474	-0.559011	0.03967	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74209	-0.82;-0.75	2.2	-3.03	0.05429	.	.	.	.	.	T	0.42177	0.1191	N	0.03608	-0.345	0.09310	N	1	B;B	0.27997	0.125;0.197	B;B	0.26864	0.019;0.074	T	0.30880	-0.9963	9	0.15066	T	0.55	.	4.319	0.11007	0.0:0.4651:0.2116:0.3233	.	445;445	P59045;P59045-2	NAL11_HUMAN;.	H	445	ENSP00000409898:R445H;ENSP00000353251:R445H	ENSP00000353251:R445H	R	-	2	0	NLRP11	61012454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.077000	0.00082	-0.957000	0.03627	-0.302000	0.09304	CGT		TCGA-IB-7651-01A-11D-2154-08	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	1	0	1	65	265	0	68	0	3.999783e-02	1	1	0	68	2		0	0	0	0	0	2	1	1	65	262	0	65	2								-20.000000	1	1	121412	1	24	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP13	126204	broad.mit.edu	37	19	56407480	56407480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56407480G>A	ENST00000342929.3	-	11	2962	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V	NLRP13_ENST00000588751.1_Missense_Mutation_p.A988V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13			109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)			ATTGCATTTCGCCAACCTAGG	0.458000																								0							SO:0001583	missense			ENST00000342929.3	1	1	hg19	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457029	0.12283	.	.	ENSG00000173572	ENST00000342929	T	0.53857	0.6	3.0	-2.83	0.05769	.	.	.	.	.	T	0.25044	0.0608	N	0.05574	-0.02	0.09310	N	1	P	0.39748	0.686	B	0.34138	0.176	T	0.18745	-1.0327	9	0.15066	T	0.55	.	11.3765	0.49730	0.0:0.0:0.7324:0.2676	.	988	Q86W25	NAL13_HUMAN	V	988	ENSP00000343891:A988V	ENSP00000343891:A988V	A	-	2	0	NLRP13	61099292	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.576000	0.05854	-0.373000	0.07979	-0.467000	0.05162	GCG		TCGA-IB-7651-01A-11D-2154-08	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	1	0	1	105	360	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	104	354	0	78	2								-20.000000	1	1	121412	4	40	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAFB	6294	broad.mit.edu	37	19	5641869	5641869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5641869C>A	ENST00000292123.5	+	4	565	c.458C>A	c.(457-459)gCt>gAt	p.A153D	SAFB_ENST00000588852.1_Missense_Mutation_p.A153D|SAFB_ENST00000592224.1_Missense_Mutation_p.A153D|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000454510.1_Intron	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B			23					GACGATGATGCTGATAACCTC	0.488000													Colon(88;338 1345 6184 8214 20897)											0							SO:0001583	missense			ENST00000292123.5	1	1	hg19	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457123	0.12283	.	.	ENSG00000160633	ENST00000292123	T	0.11712	2.75	5.47	4.42	0.53409	.	0.242758	0.29501	N	0.011962	T	0.12987	0.0315	M	0.62723	1.935	0.48571	D	0.999677	B;B;B;B;B	0.27823	0.023;0.19;0.052;0.052;0.052	B;B;B;B;B	0.27608	0.013;0.081;0.021;0.028;0.021	T	0.04737	-1.0930	10	0.17369	T	0.5	-5.9997	13.5464	0.61707	0.1611:0.8389:0.0:0.0	.	153;153;153;153;153	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	D	153	ENSP00000292123:A153D	ENSP00000292123:A153D	A	+	2	0	SAFB	5592869	0.025000	0.19082	0.015000	0.15790	0.350000	0.29205	2.814000	0.48010	1.239000	0.43787	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2	1	0	1	91	404	0	76	1	1	56	171	0	76	2		0	0	0	0	0	2	1	1	89	395	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP13	126204	broad.mit.edu	37	19	56423641	56423641	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423641A>G	ENST00000342929.3	-	5	1541	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	NLRP13_ENST00000588751.1_Silent_p.D514D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13			109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)			CGTAGAGAGAATCAATGAAAG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000342929.3	0	1	hg19	CCDS33119.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	0	0	0	11	354	1	62		0	0	0	1	62	2		0	0	0	0	0	2	0	8.540112e-02	10	348	1	62	19								-11.472010	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.390000	0.190000	1.000000	0.360000	0.466874	0.390000	0	2.800000e-01	6.100000e-01
NLRP13	126204	broad.mit.edu	37	19	56423953	56423953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423953C>T	ENST00000342929.3	-	5	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	NLRP13_ENST00000588751.1_Silent_p.Q410Q	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13			109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)			TTCTTAGCTGCTGCAGGATTT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000342929.3	1	1	hg19	CCDS33119.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	1	0	0	84	325	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	78	317	0	74	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP8	126205	broad.mit.edu	37	19	56466053	56466053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466053G>T	ENST00000291971.3	+	3	700	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	p.G210E(1)		35		Colorectal(82;0.000147)|Ovarian(87;0.17)			GCCATACAGGGAGCTCCTGGG	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000291971.3	1	1	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792438	0.31685	.	.	ENSG00000179709	ENST00000291971	D	0.88896	-2.44	2.04	0.942	0.19525	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.93621	0.7963	M	0.87900	2.915	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84005	0.0345	9	0.87932	D	0	.	6.4363	0.21825	0.0:0.308:0.692:0.0	.	210;210	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	210	ENSP00000291971:G210V	ENSP00000291971:G210V	G	+	2	0	NLRP8	61157865	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	5.793000	0.69060	0.400000	0.25396	0.514000	0.50259	GGA		TCGA-IB-7651-01A-11D-2154-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	1	0	1	64	347	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	63	336	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP8	126205	broad.mit.edu	37	19	56466774	56466774	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466774A>C	ENST00000291971.3	+	3	1421	c.1350A>C	c.(1348-1350)caA>caC	p.Q450H	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8			35		Colorectal(82;0.000147)|Ovarian(87;0.17)			ACCAAGCACAACTGGAAGGTC	0.498000																								0							SO:0001583	missense			ENST00000291971.3	1	1	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	5.959	0.360931	0.11296	.	.	ENSG00000179709	ENST00000291971	D	0.83992	-1.79	1.78	-3.56	0.04626	.	.	.	.	.	T	0.77405	0.4125	M	0.62016	1.91	0.09310	N	1	P;B	0.34546	0.456;0.41	B;B	0.39339	0.297;0.275	T	0.65323	-0.6196	9	0.39692	T	0.17	.	3.9769	0.09478	0.2802:0.4107:0.3091:0.0	.	450;450	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	450	ENSP00000291971:Q450H	ENSP00000291971:Q450H	Q	+	3	2	NLRP8	61158586	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.334000	0.01107	-1.427000	0.01992	0.421000	0.28195	CAA		TCGA-IB-7651-01A-11D-2154-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	1	0	1	93	449	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	92	441	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP8	126205	broad.mit.edu	37	19	56477586	56477586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56477586C>T	ENST00000291971.3	+	5	2292	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8			35		Colorectal(82;0.000147)|Ovarian(87;0.17)			CAGCCTAAGGCGTGTGAATAG	0.517000																								0							SO:0001583	missense			ENST00000291971.3	1	1	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005020	0.07773	.	.	ENSG00000179709	ENST00000291971	T	0.74526	-0.85	1.82	0.719	0.18208	.	.	.	.	.	T	0.62901	0.2466	L	0.46741	1.465	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.15484	0.013;0.001	T	0.51132	-0.8744	9	0.37606	T	0.19	.	5.4535	0.16578	0.3284:0.6716:0.0:0.0	.	741;741	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	741	ENSP00000291971:R741C	ENSP00000291971:R741C	R	+	1	0	NLRP8	61169398	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.131000	0.10482	0.296000	0.22592	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	1	0	1	98	484	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	96	476	0	108	2								-20.000000	1	0	121412	2	33	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP5	126206	broad.mit.edu	37	19	56539009	56539009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56539009G>A	ENST00000390649.3	+	7	1410	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5			25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)			AGTGCCAGGTGCCCGCCGTGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000390649.3	1	1	hg19	CCDS12938.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	1	0	1	37	200	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	34	198	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
ZNF787	126208	broad.mit.edu	37	19	56600023	56600023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600023C>T	ENST00000270459.3	-	3	636	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787			5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			CTTGAGGCCGCTGTGCGAGCG	0.716000																								0							SO:0001583	missense			ENST00000270459.3	0	1	hg19	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037559	0.93630	.	.	ENSG00000142409	ENST00000270459	T	0.19394	2.15	3.75	2.66	0.31614	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16811	0.0404	L	0.39245	1.2	0.80722	D	1	P	0.49447	0.924	B	0.40134	0.32	T	0.03240	-1.1057	9	0.72032	D	0.01	-27.8195	9.9398	0.41574	0.0:0.5935:0.4065:0.0	.	173	Q6DD87	ZN787_HUMAN	N	173	ENSP00000270459:S173N	ENSP00000270459:S173N	S	-	2	0	ZNF787	61291835	0.001000	0.12720	0.999000	0.59377	0.958000	0.62258	-0.311000	0.08124	0.865000	0.35603	0.556000	0.70494	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	1	0	0	9	53	0	16	1	9.920100e-01	20	35	0	16	2		0	0	0	0	0	2	1	9.953946e-01	9	53	0	16	2								-19.965250	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.870000	1.000000	1.000000	0.992479	0.990000	1	9.900000e-01	1
ZNF787	126208	broad.mit.edu	37	19	56600160	56600160	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600160G>A	ENST00000270459.3	-	3	499	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787			5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			AGCGCTTGCCGCACTCCAAGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000270459.3	1	1	hg19	CCDS42634.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	1	0	0	27	119	0	31	1	9.999983e-01	33	69	0	31	2		0	0	0	0	0	2	1	1	27	118	0	30	2								-20.000000	1	1	121342	1	26	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ZNF787	126208	broad.mit.edu	37	19	56614517	56614517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614517C>T	ENST00000270459.3	-	2	188	c.70G>A	c.(70-72)Gag>Aag	p.E24K	Y_RNA_ENST00000411128.1_RNA|ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787			5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			CCTGGGTTCTCGTGACTGGCC	0.642000																								0							SO:0001583	missense			ENST00000270459.3	1	1	hg19	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853109	0.51270	.	.	ENSG00000142409	ENST00000270459	T	0.06068	3.35	3.15	3.15	0.36227	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.23936	N	0.99642	D	0.56521	0.976	P	0.50825	0.651	T	0.39375	-0.9617	9	0.54805	T	0.06	-32.3686	10.0497	0.42208	0.0:1.0:0.0:0.0	.	24	Q6DD87	ZN787_HUMAN	K	24	ENSP00000270459:E24K	ENSP00000270459:E24K	E	-	1	0	ZNF787	61306329	0.836000	0.29430	0.993000	0.49108	0.339000	0.28857	1.304000	0.33482	2.086000	0.62901	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	1	0	1	46	200	0	45	1	9.999991e-01	31	64	0	45	2		0	0	0	0	0	2	1	1	44	196	0	45	2								-3.189669	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF444	55311	broad.mit.edu	37	19	56658505	56658505	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56658505C>T	ENST00000337080.3	+	3	592	c.225C>T	c.(223-225)gaC>gaT	p.D75D	ZNF444_ENST00000592949.1_Silent_p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444			7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			TGCCCGCCGACACGCAGGCCT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000337080.3	0	1	hg19	CCDS12939.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	1	0	0	11	60	0	8	1	6.714104e-01	6	8	0	8	2		0	0	0	0	0	2	1	9.979990e-01	6	59	0	8	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.980000	1.000000	1.000000	0.996910	0.990000	1	9.900000e-01	1
ZSCAN5B	342933	broad.mit.edu	37	19	56704380	56704380	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56704380G>T	ENST00000586855.2	-	2	355	c.42C>A	c.(40-42)ccC>ccA	p.P14P	ZSCAN5B_ENST00000358992.3_Silent_p.P14P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B			37					GGCTGTTGCAGGGTCCTCCCT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000586855.2	1	1	hg19	CCDS46203.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	1	0	1	17	71	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999802e-01	17	70	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999910	0.990000	1	9.900000e-01	1
RPL36	25873	broad.mit.edu	37	19	5691599	5691599	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5691599C>T	ENST00000577222.1	+	6	829	c.285C>T	c.(283-285)gcC>gcT	p.A95A	RPL36_ENST00000579649.1_Silent_p.A95A|RPL36_ENST00000394580.2_Silent_p.A95A|RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000347512.3_Silent_p.A95A			Q9Y3U8	RL36_HUMAN	ribosomal protein L36			2					ACGTACTGGCCGCCATGAGGA	0.637000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000577222.1	0	1	hg19	CCDS12147.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	0	0	0	5	147	0	24	1	1	89	3375	0	24	2	0	0	0	1	0	0	2	1	9.352905e-01	5	144	0	24	2								-7.578608	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.440000	0.160000	1.000000	0.380000	0.492256	0.440000	0	2.700000e-01	7.100000e-01
ZNF583	147949	broad.mit.edu	37	19	56935069	56935069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935069G>A	ENST00000333201.9	+	5	1252	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583			26		Colorectal(82;0.000256)|Ovarian(87;0.243)			AATTCATACAGGAGAGAAACC	0.413000																								0							SO:0001583	missense			ENST00000333201.9	1	1	hg19	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324461	0.81580	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.26223	1.75;1.75	4.33	4.33	0.51752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000502	T	0.48892	0.1525	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.45366	-0.9266	9	.	.	.	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	348	Q96ND8	ZN583_HUMAN	R	348	ENSP00000291598:G348R;ENSP00000388502:G348R	.	G	+	1	0	ZNF583	61626881	1.000000	0.71417	0.538000	0.28064	0.994000	0.84299	4.412000	0.59787	2.415000	0.81967	0.462000	0.41574	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	1	0	1	69	314	0	89	1	8.363956e-01	4	13	0	89	2		0	0	0	0	0	2	1	1	69	307	0	89	2								-3.226905	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF583	147949	broad.mit.edu	37	19	56935091	56935091	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935091A>C	ENST00000333201.9	+	5	1274	c.1064A>C	c.(1063-1065)aAt>aCt	p.N355T	ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583			26		Colorectal(82;0.000256)|Ovarian(87;0.243)			TATGTGTGTAATGTGTGTGGG	0.408000																								0							SO:0001583	missense			ENST00000333201.9	1	1	hg19	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	9.308	1.054718	0.19907	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07444	3.19;3.19	4.33	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.462253	0.18306	N	0.145252	T	0.05090	0.0136	N	0.05177	-0.1	0.09310	N	1	B	0.31026	0.304	B	0.42959	0.403	T	0.44892	-0.9298	9	.	.	.	.	4.4064	0.11411	0.6477:0.1809:0.1715:0.0	.	355	Q96ND8	ZN583_HUMAN	T	355	ENSP00000291598:N355T;ENSP00000388502:N355T	.	N	+	2	0	ZNF583	61626903	0.000000	0.05858	0.002000	0.10522	0.946000	0.59487	-2.053000	0.01400	0.784000	0.33661	0.379000	0.24179	AAT		TCGA-IB-7651-01A-11D-2154-08	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	1	0	1	81	319	0	79	1	8.832136e-01	2	15	0	79	2		0	0	0	0	0	2	1	1	79	314	0	79	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF583	147949	broad.mit.edu	37	19	56935280	56935280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935280G>A	ENST00000333201.9	+	5	1463	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583			26		Colorectal(82;0.000256)|Ovarian(87;0.243)			AAAGCCTTCAGCCAAATTGCA	0.408000																								0							SO:0001583	missense			ENST00000333201.9	1	1	hg19	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956489	0.53293	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07567	3.18;3.18	4.57	-0.998	0.10212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.13670	0.0331	L	0.48218	1.51	0.09310	N	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.12400	-1.0549	9	.	.	.	.	1.7987	0.03067	0.3461:0.1244:0.4027:0.1268	.	418	Q96ND8	ZN583_HUMAN	N	418	ENSP00000291598:S418N;ENSP00000388502:S418N	.	S	+	2	0	ZNF583	61627092	0.000000	0.05858	0.130000	0.21974	0.997000	0.91878	-4.173000	0.00280	-0.120000	0.11809	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	1	0	1	42	264	0	72	1	7.298758e-01	2	16	0	72	2		0	0	0	0	0	2	1	1	42	263	0	72	2								-19.030920	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
ZNF583	147949	broad.mit.edu	37	19	56935478	56935478	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935478G>T	ENST00000333201.9	+	5	1661	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583			26		Colorectal(82;0.000256)|Ovarian(87;0.243)			CAACATCAGAGAATTCATACT	0.383000																								0							SO:0001583	missense			ENST00000333201.9	1	1	hg19	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723444	0.68959	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000332	T	0.51719	0.1691	M	0.78223	2.4	0.54753	D	0.999981	D	0.71674	0.998	D	0.71414	0.973	T	0.53436	-0.8439	9	.	.	.	.	16.7887	0.85582	0.0:0.0:1.0:0.0	.	484	Q96ND8	ZN583_HUMAN	I	484	ENSP00000291598:R484I;ENSP00000388502:R484I	.	R	+	2	0	ZNF583	61627290	0.000000	0.05858	0.008000	0.14137	0.993000	0.82548	-0.421000	0.07053	2.571000	0.86741	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	1	0	1	88	393	0	94	1	8.648484e-01	7	11	0	94	2		0	0	0	0	0	2	1	1	88	386	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LONP1	9361	broad.mit.edu	37	19	5694911	5694911	+	Splice_Site	SNP	C	C	T	rs138134205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5694911C>T	ENST00000360614.3	-	14	2172	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	LONP1_ENST00000593119.1_Splice_Site_p.R608H|LONP1_ENST00000540670.2_Splice_Site_p.R476H|LONP1_ENST00000590729.1_Splice_Site_p.R542H|LONP1_ENST00000585374.1_Splice_Site_p.R558H	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial			24					CACCAGGTAGCGCTGCAAGGG	0.637000																								0							SO:0001630	splice_region_variant			ENST00000360614.3	1	0	hg19	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187963	0.57909	0.0	1.16E-4	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.26067	2.06;1.76	3.72	2.65	0.31530	.	0.134457	0.42682	D	0.000661	T	0.24661	0.0598	L	0.60904	1.88	0.80722	D	1	P;P;P	0.45634	0.863;0.863;0.863	B;B;B	0.43194	0.411;0.411;0.411	T	0.01956	-1.1240	10	0.49607	T	0.09	-7.9883	6.32	0.21213	0.0:0.7612:0.0:0.2388	.	672;608;672	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	H	672;636;476	ENSP00000353826:R672H;ENSP00000441523:R476H	ENSP00000351177:R636H	R	-	2	0	LONP1	5645911	0.995000	0.38212	0.637000	0.29366	0.762000	0.43233	3.212000	0.51145	0.548000	0.28955	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	0	0	1	39	225	0	29	1	1	72	163	0	29	2		0	0	0	0	0	2	1	1	39	219	0	29	2								-20.000000	1	0	121328	3	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
ZNF667	63934	broad.mit.edu	37	19	56973726	56973726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56973726C>T	ENST00000504904.3	-	4	733	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q|ZNF667_ENST00000591790.1_Missense_Mutation_p.R5Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667			38		Colorectal(82;0.000256)|Ovarian(87;0.243)			GGATTTCCCCCGTGCAGAAGG	0.537000																								0							SO:0001583	missense			ENST00000504904.3	1	1	hg19	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020736	0.54576	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.05447	3.44;3.49;3.49	4.21	3.17	0.36434	.	0.291293	0.18795	N	0.130960	T	0.03053	0.0090	N	0.12746	0.255	0.09310	N	1	B	0.31503	0.326	B	0.16289	0.015	T	0.45440	-0.9261	10	0.26408	T	0.33	-3.0919	8.5568	0.33487	0.0:0.8876:0.0:0.1124	.	5	Q5HYK9	ZN667_HUMAN	Q	98;5;5	ENSP00000344699:R98Q;ENSP00000439402:R5Q;ENSP00000292069:R5Q	ENSP00000292069:R5Q	R	-	2	0	ZNF667	61665538	0.010000	0.17322	0.005000	0.12908	0.116000	0.19942	0.503000	0.22610	1.087000	0.41251	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	1	0	1	105	646	0	157	0	3.135743e-01	0	8	0	157	2		0	0	0	0	0	2	1	1	102	620	0	156	2								-2.578435	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF471	57573	broad.mit.edu	37	19	57036570	57036570	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036570T>C	ENST00000308031.5	+	5	1267	c.1134T>C	c.(1132-1134)atT>atC	p.I378I	ZNF471_ENST00000591537.1_Missense_Mutation_p.L238S|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471			36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			TTAATTGCATTGATTGTGGGA	0.393000													Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											0							SO:0001819	synonymous_variant			ENST00000308031.5	1	1	hg19	CCDS12945.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	0	0	1	114	507	0	139	0	3.069669e-01	0	6	0	139	2		0	0	0	0	0	2	1	1	114	498	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFP28	140612	broad.mit.edu	37	19	57060343	57060343	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57060343G>T	ENST00000301318.3	+	5	611	c.540G>T	c.(538-540)tgG>tgT	p.W180C	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein			35		Colorectal(82;0.000256)|Ovarian(87;0.243)			AGGCTGTGTGGAAGATCAAGG	0.378000													Ovarian(124;554 1662 19430 21141 52494)											0							SO:0001583	missense			ENST00000301318.3	1	1	hg19	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	0.161	-1.080813	0.01888	.	.	ENSG00000196867	ENST00000301318	T	0.04970	3.52	4.34	-0.623	0.11556	.	2.748390	0.01538	N	0.019092	T	0.04634	0.0126	N	0.05230	-0.09	0.09310	N	1	B;P	0.47762	0.0;0.9	B;P	0.45913	0.0;0.497	T	0.15150	-1.0447	10	0.37606	T	0.19	.	4.3467	0.11136	0.251:0.0:0.5953:0.1537	.	180;180	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	C	180	ENSP00000301318:W180C	ENSP00000301318:W180C	W	+	3	0	ZFP28	61752155	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.339000	0.07832	-0.073000	0.12842	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	1	0	1	26	145	0	35	0	7.813374e-01	0	18	0	35	2		0	0	0	0	0	2	1	1	26	144	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
ZFP28	140612	broad.mit.edu	37	19	57061959	57061959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57061959G>T	ENST00000301318.3	+	7	954	c.883G>T	c.(883-885)Gga>Tga	p.G295*	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Nonsense_Mutation_p.G295*	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein			35		Colorectal(82;0.000256)|Ovarian(87;0.243)			AGAGCTGACAGGAAGCCTGTT	0.468000													Ovarian(124;554 1662 19430 21141 52494)											0							SO:0001587	stop_gained			ENST00000301318.3	0	0	hg19	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715171	0.68844	.	.	ENSG00000196867	ENST00000301318	.	.	.	3.67	-5.3	0.02738	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	5.6577	0.17652	0.2736:0.2838:0.4426:0.0	.	.	.	.	X	295	.	ENSP00000301318:G295X	G	+	1	0	ZFP28	61753771	0.001000	0.12720	0.000000	0.03702	0.189000	0.23516	-0.287000	0.08388	-1.094000	0.03054	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	1	0	1	56	275	0	80	1	7.796739e-01	10	6	0	80	2		0	0	0	0	0	2	1	1	55	272	0	80	2								-3.357445	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF470	388566	broad.mit.edu	37	19	57088168	57088168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088168G>A	ENST00000330619.8	+	6	1057	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470			41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			ATAATGGAAAGACTTAAAAGC	0.363000																								0							SO:0001583	missense			ENST00000330619.8	1	1	hg19	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328844	0.05314	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06142	3.34;3.34	4.03	1.74	0.24563	.	.	.	.	.	T	0.07908	0.0198	L	0.31752	0.955	0.09310	N	1	P	0.44690	0.841	P	0.54210	0.745	T	0.29731	-1.0002	9	0.11794	T	0.64	.	6.0467	0.19764	0.2623:0.0:0.7377:0.0	.	124	Q6ECI4	ZN470_HUMAN	K	124	ENSP00000375590:R124K;ENSP00000333223:R124K	ENSP00000333223:R124K	R	+	2	0	ZNF470	61779980	0.003000	0.15002	0.288000	0.24862	0.032000	0.12392	0.351000	0.20096	0.844000	0.35094	0.585000	0.79938	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	1	84	322	0	65	0	5.861983e-01	0	9	0	65	2		0	0	0	0	0	2	1	1	82	311	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF470	388566	broad.mit.edu	37	19	57088924	57088924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088924C>T	ENST00000330619.8	+	6	1813	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470			41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			TGTGGGAAAGCTTTCAGGCAG	0.423000																								0							SO:0001583	missense			ENST00000330619.8	1	1	hg19	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	-	7.775	0.708314	0.15239	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.19105	2.17;2.17	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12135	0.0295	N	0.10733	0.035	0.09310	N	1	P	0.43885	0.82	B	0.44224	0.444	T	0.05920	-1.0856	9	0.41790	T	0.15	.	5.8632	0.18760	0.0:0.6971:0.1981:0.1047	.	376	Q6ECI4	ZN470_HUMAN	V	376	ENSP00000375590:A376V;ENSP00000333223:A376V	ENSP00000333223:A376V	A	+	2	0	ZNF470	61780736	0.000000	0.05858	0.913000	0.36048	0.044000	0.14063	0.405000	0.21015	2.177000	0.69029	0.603000	0.83216	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	0	26	313	0	81	0	7.736378e-02	0	6	0	81	2		0	0	0	0	0	2	1	9.999999e-01	26	307	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.950000	0.620000	1.000000	1.000000	0.905661	0.950000	1	7.700000e-01	1
ZNF470	388566	broad.mit.edu	37	19	57089370	57089370	+	Missense_Mutation	SNP	G	G	A	rs140617949	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089370G>A	ENST00000330619.8	+	6	2259	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470			41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			TGCACACCTCGCGCAACATCA	0.458000																								0							SO:0001583	missense			ENST00000330619.8	1	1	hg19	CCDS33122.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	2.273	-0.366479	0.05069	4.54E-4	0.001163	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.08008	3.14;3.14	4.37	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.27351	0.176	B	0.15052	0.012	T	0.40961	-0.9535	9	0.02654	T	1	.	5.5542	0.17107	0.2087:0.1704:0.6209:0.0	.	525	Q6ECI4	ZN470_HUMAN	T	525	ENSP00000375590:A525T;ENSP00000333223:A525T	ENSP00000333223:A525T	A	+	1	0	ZNF470	61781182	0.000000	0.05858	0.481000	0.27354	0.812000	0.45895	0.041000	0.13927	1.066000	0.40716	-0.145000	0.13849	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	1	61	276	0	72	0	5.672825e-01	0	10	0	72	2		0	0	0	0	0	2	1	1	60	270	0	72	2								-3.568536	1	1	121410	208	53	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF470	388566	broad.mit.edu	37	19	57089583	57089583	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089583C>A	ENST00000330619.8	+	6	2472	c.1786C>A	c.(1786-1788)Ctt>Att	p.L596I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470			41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			GTATGAATGTCTTGAATGTGG	0.433000																								0							SO:0001583	missense			ENST00000330619.8	1	1	hg19	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799205	0.31869	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07688	3.17;3.17	4.38	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	L	0.38838	1.175	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.32561	-0.9902	9	0.54805	T	0.06	.	8.1605	0.31196	0.1625:0.5364:0.3011:0.0	.	596	Q6ECI4	ZN470_HUMAN	I	596	ENSP00000375590:L596I;ENSP00000333223:L596I	ENSP00000333223:L596I	L	+	1	0	ZNF470	61781395	0.000000	0.05858	0.655000	0.29622	0.996000	0.88848	-1.176000	0.03099	0.434000	0.26340	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	0	0	0	14	396	0	85	0	1.895066e-02	0	6	0	85	2		0	0	0	0	0	2	1	9.997244e-01	14	387	0	84	2								-3.734163	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.430000	0.240000	1.000000	0.410000	0.505321	0.430000	0	3.200000e-01	6.500000e-01
ZNF71	58491	broad.mit.edu	37	19	57133136	57133136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133136G>A	ENST00000328070.6	+	3	715	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71			26					GTTTGAGTGTGACACCTGTGG	0.597000																								0							SO:0001583	missense			ENST00000328070.6	1	1	hg19	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.005750	0.00426	.	.	ENSG00000197951	ENST00000328070	T	0.07327	3.2	3.7	-5.9	0.02275	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46911	-0.9157	9	0.02654	T	1	.	7.5589	0.27839	0.6047:0.2386:0.1567:0.0	.	161	Q9NQZ8	ZNF71_HUMAN	N	161	ENSP00000328245:D161N	ENSP00000328245:D161N	D	+	1	0	ZNF71	61824948	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-3.715000	0.00385	-1.111000	0.02988	-0.254000	0.11334	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	1	0	1	76	273	0	81	0	8.901748e-01	0	16	0	81	2		0	0	0	0	0	2	1	1	75	262	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF71	58491	broad.mit.edu	37	19	57133840	57133840	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133840G>A	ENST00000328070.6	+	3	1419	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71			26					CGGGGCGCTCGTCCCTCATCG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000328070.6	1	1	hg19	CCDS12947.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	1	0	1	70	328	0	103	0	8.873843e-01	0	20	0	103	2		0	0	0	0	0	2	1	1	70	327	0	101	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF71	58491	broad.mit.edu	37	19	57134102	57134102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57134102C>T	ENST00000328070.6	+	3	1681	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71			26					GAACCTGACGCGCCACCTGCG	0.652000																								0							SO:0001583	missense			ENST00000328070.6	1	1	hg19	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914312	0.52546	.	.	ENSG00000197951	ENST00000328070	T	0.31247	1.5	3.11	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	M	0.76433	2.335	0.09310	N	0.999995	B	0.29508	0.246	B	0.17433	0.018	T	0.21895	-1.0232	9	0.59425	D	0.04	.	10.2854	0.43564	0.4993:0.5006:0.0:0.0	.	483	Q9NQZ8	ZNF71_HUMAN	C	483	ENSP00000328245:R483C	ENSP00000328245:R483C	R	+	1	0	ZNF71	61825914	0.000000	0.05858	0.986000	0.45419	0.981000	0.71138	-1.191000	0.03055	0.313000	0.23062	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	1	0	1	56	330	0	53	0	8.461952e-01	0	22	0	53	2		0	0	0	0	0	2	1	1	56	320	0	52	2								-20.000000	1	1	121382	1	28	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LONP1	9361	broad.mit.edu	37	19	5714234	5714234	+	Missense_Mutation	SNP	C	C	T	rs148374055	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5714234C>T	ENST00000360614.3	-	2	635	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	LONP1_ENST00000593119.1_Missense_Mutation_p.A96T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial			24					TAAGGCTGGGCGAGACGAACT	0.438000																								0							SO:0001583	missense			ENST00000360614.3	1	1	hg19	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916731	0.92249	0.0	0.001163	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.42513	0.97	4.81	4.81	0.61882	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.75447	2.3	0.58432	D	0.999991	D;P;D	0.54207	0.965;0.907;0.965	P;P;P	0.51055	0.657;0.523;0.657	T	0.57505	-0.7800	10	0.40728	T	0.16	-28.4331	15.4058	0.74877	0.0:1.0:0.0:0.0	.	160;96;160	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	T	160;124	ENSP00000353826:A160T	ENSP00000351177:A124T	A	-	1	0	LONP1	5665234	1.000000	0.71417	0.983000	0.44433	0.923000	0.55619	7.137000	0.77295	2.226000	0.72624	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	1	0	1	103	420	0	113	1	1	25	105	0	113	2		0	0	0	0	0	2	1	1	102	399	0	109	2								-2.945523	1	1	121412	64	51	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835			47					AAGGCGTCCCGAACTGTCTGC	0.642000																								0							SO:0001583	missense			ENST00000537055.2	1	1	hg19	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885100	0.17540	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07114	3.22	2.15	-4.29	0.03721	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39187	-0.9626	9	0.87932	D	0	.	11.1417	0.48406	0.0:0.6885:0.1825:0.129	.	522	Q9Y2P0	ZN835_HUMAN	L	522;500	ENSP00000444747:S500L	ENSP00000341756:S522L	S	-	2	0	ZNF835	61866880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-1.571000	0.01663	-0.311000	0.09066	TCG		TCGA-IB-7651-01A-11D-2154-08	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1	207	891	0	200	0	2.400742e-01	0	5	0	200	2		0	0	0	0	0	2	1	1	205	876	0	198	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF835	90485	broad.mit.edu	37	19	57175214	57175214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175214G>A	ENST00000537055.2	-	2	1584	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835			47					AGGCCTTGCCGCACTCGGGGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000537055.2	1	1	hg19	CCDS56105.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1	128	505	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	1	126	495	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF835	90485	broad.mit.edu	37	19	57175556	57175556	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175556G>A	ENST00000537055.2	-	2	1242	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835			47					TGGCGCACTGGCCGCACGCGT	0.697000																								0							SO:0001819	synonymous_variant			ENST00000537055.2	1	1	hg19	CCDS56105.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1	26	109	0	32	0	3.998731e-02	0	2	0	32	2		0	0	0	0	0	2	1	1	25	106	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ZNF835	90485	broad.mit.edu	37	19	57175850	57175850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175850C>T	ENST00000537055.2	-	2	948	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835			47					TGCGCTGGTGCTCTATCAGGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000537055.2	1	1	hg19	CCDS56105.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1	39	163	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	1	38	159	0	45	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF835	90485	broad.mit.edu	37	19	57176546	57176546	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176546G>A	ENST00000537055.2	-	2	252	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835			47					CCTGGAGGGCGACGCTCAAGA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000537055.2	1	1	hg19	CCDS56105.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1	65	241	0	56	0	5.355789e-01	0	8	0	56	2		0	0	0	0	0	2	1	1	64	239	0	56	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIM2	23619	broad.mit.edu	37	19	57286700	57286700	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286700T>C	ENST00000391708.3	-	12	1482	c.940A>G	c.(940-942)Ata>Gta	p.I314V	AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2			44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			CTCGTACATATTCCAGGAGCA	0.443000																								0							SO:0001583	missense			ENST00000391708.3	0	1	hg19	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	T	2.426	-0.331942	0.05314	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04049	3.72;3.72	3.69	-1.2	0.09554	.	.	.	.	.	T	0.02649	0.0080	N	0.12182	0.205	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.39210	-0.9625	8	0.72032	D	0.01	.	4.196	0.10443	0.0:0.4099:0.2051:0.385	.	314	Q9NZV7	ZIM2_HUMAN	V	314	ENSP00000375589:I314V;ENSP00000221722:I314V	ENSP00000221722:I314V	I	-	1	0	ZIM2	61978512	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.818000	0.04467	-0.301000	0.08882	0.533000	0.62120	ATA		TCGA-IB-7651-01A-11D-2154-08	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2	1	0	0	16	389	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	9.999207e-01	16	378	0	63	2								-16.562560	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.500000	0.280000	1.000000	0.460000	0.560153	0.500000	0	3.800000e-01	7.300000e-01
PEG3	5178	broad.mit.edu	37	19	57325143	57325143	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57325143G>T	ENST00000326441.9	-	10	5030	c.4667C>A	c.(4666-4668)gCc>gAc	p.A1556D	PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3			170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			AGCTTGATTGGCACCACCTGT	0.527000																								0							SO:0001583	missense			ENST00000326441.9	1	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746288	0.30955	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02837	4.14;4.14	4.09	-0.906	0.10524	.	1.506540	0.04129	N	0.317640	T	0.02533	0.0077	N	0.19112	0.55	.	.	.	B;B;B	0.26002	0.139;0.139;0.139	B;B;B	0.25140	0.058;0.058;0.058	T	0.46162	-0.9211	9	0.59425	D	0.04	-1.6917	5.2732	0.15636	0.0:0.2984:0.2608:0.4407	.	1432;1556;1491	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1556	ENSP00000326581:A1556D;ENSP00000403051:A1556D	ENSP00000326581:A1556D	A	-	2	0	ZIM2	62016955	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-0.421000	0.07053	-0.052000	0.13311	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	60	327	0	64	0	4.228616e-01	0	9	0	64	2		0	0	0	0	0	2	1	1	58	323	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEG3	5178	broad.mit.edu	37	19	57327375	57327375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57327375G>A	ENST00000326441.9	-	10	2798	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3			170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			ATGGTTGATAGCATCGAAGCT	0.468000																								0							SO:0001583	missense			ENST00000326441.9	1	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	7.455	0.643516	0.14451	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02525	4.26;4.26	4.11	-8.05	0.01106	.	2.028870	0.02362	N	0.077017	T	0.00815	0.0027	N	0.00146	-1.995	.	.	.	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.51996	-0.8634	9	0.33940	T	0.23	-1.3044	9.2396	0.37489	0.1962:0.2458:0.558:0.0	.	688;812;747	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	812	ENSP00000326581:A812V;ENSP00000403051:A812V	ENSP00000326581:A812V	A	-	2	0	ZIM2	62019187	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.000000	0.12993	-1.984000	0.00985	-0.482000	0.04802	GCT		TCGA-IB-7651-01A-11D-2154-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	159	653	0	141	0	4.858609e-01	0	8	0	141	2		0	0	0	0	0	2	1	1	159	641	0	141	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEG3	5178	broad.mit.edu	37	19	57328183	57328183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328183C>T	ENST00000326441.9	-	10	1990	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3			170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			GGCATGAAGGCTTCCTCACAT	0.448000																								0							SO:0001583	missense			ENST00000326441.9	1	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201525	0.09652	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.01613	4.73;4.73	4.14	-3.55	0.04639	.	0.757041	0.11677	N	0.540227	T	0.00724	0.0024	N	0.03324	-0.35	.	.	.	B;B;B	0.14438	0.0;0.01;0.002	B;B;B	0.09377	0.001;0.002;0.004	T	0.46020	-0.9221	9	0.24483	T	0.36	-4.8432	2.2561	0.04055	0.1053:0.1573:0.3212:0.4162	.	419;543;478	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	543;543;513	ENSP00000326581:A543T;ENSP00000403051:A543T	ENSP00000292074:A513T	A	-	1	0	ZIM2	62019995	0.000000	0.05858	0.162000	0.22713	0.559000	0.35586	-1.296000	0.02762	-0.454000	0.07066	-0.355000	0.07637	GCC		TCGA-IB-7651-01A-11D-2154-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	162	757	0	163	0	4.900794e-01	0	9	0	163	2		0	0	0	0	0	2	1	1	157	744	0	162	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEG3	5178	broad.mit.edu	37	19	57328491	57328491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328491G>A	ENST00000326441.9	-	10	1682	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3			170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			CTGTGACTCGGTAAAGGAGGG	0.498000																								0							SO:0001583	missense			ENST00000326441.9	1	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339049	0.11069	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02837	4.14;4.14	4.14	2.02	0.26589	.	0.972834	0.08419	N	0.948615	T	0.01592	0.0051	L	0.27053	0.805	.	.	.	B;B;P	0.46395	0.08;0.005;0.877	B;B;B	0.36030	0.027;0.005;0.216	T	0.12142	-1.0559	9	0.02654	T	1	-3.6534	2.948	0.05852	0.0984:0.1807:0.5344:0.1866	.	316;440;375	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	440;440;410	ENSP00000326581:T440I;ENSP00000403051:T440I	ENSP00000292074:T410I	T	-	2	0	ZIM2	62020303	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.686000	0.25392	0.714000	0.32081	-0.127000	0.14921	ACC		TCGA-IB-7651-01A-11D-2154-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	0	0	1	140	660	0	124	0	3.558149e-01	0	7	0	124	2		0	0	0	0	0	2	1	1	138	645	1	122	21								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEG3	5178	broad.mit.edu	37	19	57328690	57328690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328690C>T	ENST00000326441.9	-	10	1483	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3			170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			AACCTAAAGCCTCCCCTAAAT	0.438000																								0							SO:0001583	missense			ENST00000326441.9	1	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013665	0.35511	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02258	4.37;4.37	4.25	3.23	0.37069	.	0.309838	0.23567	N	0.046799	T	0.01661	0.0053	N	0.20986	0.625	.	.	.	B;B;B	0.33528	0.416;0.416;0.379	B;B;B	0.28638	0.092;0.092;0.07	T	0.46400	-0.9194	9	0.17369	T	0.5	-28.0444	10.2656	0.43453	0.0:0.9022:0.0:0.0977	.	250;374;309	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	374;374;344	ENSP00000326581:G374S;ENSP00000403051:G374S	ENSP00000292074:G344S	G	-	1	0	ZIM2	62020502	0.000000	0.05858	0.137000	0.22149	0.844000	0.47949	0.255000	0.18333	1.389000	0.46526	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	117	536	0	80	0	0	0	1	0	80	2		0	0	0	0	0	2	1	1	116	532	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEG3	5178	broad.mit.edu	37	19	57333086	57333086	+	Missense_Mutation	SNP	G	G	A	rs139872811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57333086G>A	ENST00000326441.9	-	7	965	c.602C>T	c.(601-603)gCg>gTg	p.A201V	PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	p.A201V(2)|p.A76V(1)		170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			GCTTGTTTTCGCCACCACAGG	0.532000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000326441.9	1	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705777	0.68615	2.27E-4	2.33E-4	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04758	3.56;3.56;4.18;4.18	3.03	1.98	0.26296	.	1.309430	0.05466	N	0.552168	T	0.02380	0.0073	N	0.08118	0	.	.	.	P;P;P;P	0.47253	0.804;0.628;0.628;0.892	B;B;B;B	0.30316	0.078;0.039;0.058;0.114	T	0.40627	-0.9553	9	0.72032	D	0.01	-3.6717	6.4397	0.21843	0.0:0.0:0.5316:0.4684	.	76;201;135;76	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	V	76;76;201;201;201	ENSP00000375589:A76V;ENSP00000221722:A76V;ENSP00000326581:A201V;ENSP00000403051:A201V	ENSP00000221722:A76V	A	-	2	0	ZIM2	62024898	0.051000	0.20477	0.002000	0.10522	0.476000	0.33039	0.604000	0.24164	0.724000	0.32296	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	158	655	1	148	0	6.613996e-01	0	11	1	148	2		0	0	0	0	0	2	1	1	156	647	1	146	19								-3.509898	1	1	121412	5	41	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIM3	114026	broad.mit.edu	37	19	57646296	57646296	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646296T>G	ENST00000269834.1	-	5	1794	c.1409A>C	c.(1408-1410)cAc>cCc	p.H470P	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3			52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)			CTATCTGGAGTGAATTCTTTT	0.423000																								0							SO:0001583	missense			ENST00000269834.1	1	1	hg19	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075839	0.36662	.	.	ENSG00000141946	ENST00000269834	T	0.10005	2.92	2.27	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	H	0.94542	3.55	0.26154	N	0.980096	P	0.46020	0.871	P	0.47891	0.56	T	0.15235	-1.0444	9	0.87932	D	0	.	5.3816	0.16194	0.0:0.0:0.2927:0.7073	.	470	Q96PE6	ZIM3_HUMAN	P	470	ENSP00000269834:H470P	ENSP00000269834:H470P	H	-	2	0	ZIM3	62338108	0.999000	0.42202	0.109000	0.21407	0.405000	0.30901	1.731000	0.38135	0.268000	0.21939	0.260000	0.18958	CAC		TCGA-IB-7651-01A-11D-2154-08	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1	0	0	0	15	422	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	9.998553e-01	14	414	0	95	2								-3.751188	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.430000	0.240000	1.000000	0.410000	0.505972	0.430000	0	3.200000e-01	6.500000e-01
ZIM3	114026	broad.mit.edu	37	19	57646919	57646919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646919C>T	ENST00000269834.1	-	5	1171	c.786G>A	c.(784-786)tgG>tgA	p.W262*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3			52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)			AGGATGATTTCCAGGAAAAGG	0.373000																								0							SO:0001587	stop_gained			ENST00000269834.1	0	1	hg19	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389830	0.82902	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.53	-2.56	0.06268	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.3943	0.26927	0.0:0.2886:0.0:0.7114	.	.	.	.	X	262	.	ENSP00000269834:W262X	W	-	3	0	ZIM3	62338731	0.000000	0.05858	0.148000	0.22405	0.499000	0.33736	-2.059000	0.01393	-0.357000	0.08175	0.313000	0.20887	TGG		TCGA-IB-7651-01A-11D-2154-08	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1	1	0	0	122	477	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	115	469	0	108	2								-20.000000	1	1	121410	1	31	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF264	9422	broad.mit.edu	37	19	57716805	57716805	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57716805G>T	ENST00000263095.6	+	3	615	c.201G>T	c.(199-201)gaG>gaT	p.E67D	ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264			27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)			GCCACCTAGAGCATGGGCAGG	0.522000																								0							SO:0001583	missense			ENST00000263095.6	1	1	hg19	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511876	0.12944	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.01113	5.32;5.32	2.62	-2.2	0.06994	Krueppel-associated box (3);	.	.	.	.	T	0.01156	0.0038	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45086	-0.9285	9	0.56958	D	0.05	.	3.385	0.07268	0.4793:0.0:0.331:0.1897	.	67	O43296	ZN264_HUMAN	D	67	ENSP00000263095:E67D;ENSP00000440376:E67D	ENSP00000263095:E67D	E	+	3	2	ZNF264	62408617	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	-0.410000	0.07151	-0.380000	0.07894	-1.863000	0.00559	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1	1	0	1	19	62	0	18	0	8.883768e-01	0	15	0	18	2		0	0	0	0	0	2	1	9.999948e-01	18	60	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ZNF264	9422	broad.mit.edu	37	19	57722984	57722984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57722984G>T	ENST00000263095.6	+	4	933	c.519G>T	c.(517-519)caG>caT	p.Q173H	ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264			27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)			GGATTGGACAGGAGCAAGTCT	0.468000																								0							SO:0001583	missense			ENST00000263095.6	1	1	hg19	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898262	0.33535	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.28069	1.63;1.63	2.35	1.19	0.21007	.	.	.	.	.	T	0.13114	0.0318	N	0.10664	0.02	0.25288	N	0.98938	P	0.36438	0.553	B	0.38712	0.28	T	0.18808	-1.0325	9	0.02654	T	1	.	7.8941	0.29695	0.1559:0.0:0.8441:0.0	.	173	O43296	ZN264_HUMAN	H	173	ENSP00000263095:Q173H;ENSP00000440376:Q173H	ENSP00000263095:Q173H	Q	+	3	2	ZNF264	62414796	0.001000	0.12720	0.005000	0.12908	0.043000	0.13939	-0.111000	0.10807	0.461000	0.27071	-0.378000	0.06908	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1	1	0	1	61	221	0	71	0	9.356232e-01	0	19	0	71	2		0	0	0	0	0	2	1	1	58	216	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF264	9422	broad.mit.edu	37	19	57723439	57723439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57723439G>A	ENST00000263095.6	+	4	1388	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264			27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)			CAAGTCTTTCGACATAGGCCA	0.493000																								0							SO:0001583	missense			ENST00000263095.6	1	1	hg19	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761333	0.31228	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.18338	2.22;2.22	2.26	0.026	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29093	0.0723	L	0.53729	1.69	0.22610	N	0.998931	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	9	0.36615	T	0.2	.	4.9234	0.13882	0.4825:0.0:0.5175:0.0	.	325	O43296	ZN264_HUMAN	Q	325	ENSP00000263095:R325Q;ENSP00000440376:R325Q	ENSP00000263095:R325Q	R	+	2	0	ZNF264	62415251	0.000000	0.05858	0.100000	0.21137	0.674000	0.39518	0.312000	0.19397	0.084000	0.17077	-0.339000	0.08088	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1	1	0	1	59	258	0	57	0	6.370922e-01	0	11	0	57	2		0	0	0	0	0	2	1	1	57	256	0	55	2								-20.000000	1	1	121410	2	33	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AURKC	6795	broad.mit.edu	37	19	57746274	57746274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57746274C>T	ENST00000302804.7	+	6	793	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000598785.1_Silent_p.L169L|AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000448930.1_Silent_p.L169L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C			25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)			GTGTGGGACACTGGACTACTT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000302804.7	1	1	hg19	CCDS33128.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	1	0	1	41	187	0	51	0	3.024097e-01	0	6	0	51	2		0	0	0	0	0	2	1	1	40	185	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF460	10794	broad.mit.edu	37	19	57802170	57802170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802170C>A	ENST00000360338.3	+	3	583	c.261C>A	c.(259-261)taC>taA	p.Y87*	ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460			19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)			TCCCAAGATACTCCTATTTGG	0.522000																								0							SO:0001587	stop_gained			ENST00000360338.3	0	1	hg19	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702427	0.48307	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	.	.	.	2.06	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	5.8591	0.18736	0.3126:0.6874:0.0:0.0	.	.	.	.	X	46;87	.	ENSP00000353491:Y87X	Y	+	3	2	ZNF460	62493982	0.000000	0.05858	0.016000	0.15963	0.009000	0.06853	0.366000	0.20365	1.132000	0.42129	0.650000	0.86243	TAC		TCGA-IB-7651-01A-11D-2154-08	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	1	0	1	76	292	0	85	0	2.798648e-01	1	4	0	85	2		0	0	0	0	0	2	1	1	76	290	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF460	10794	broad.mit.edu	37	19	57802419	57802419	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802419C>A	ENST00000360338.3	+	3	832	c.510C>A	c.(508-510)tcC>tcA	p.S170S	ZNF460_ENST00000537645.1_Silent_p.S129S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460			19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)			GGGAAAATTCCTATAAATTCG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000360338.3	1	1	hg19	CCDS12949.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	1	0	1	138	579	0	119	0	3.748652e-02	1	1	0	119	2		0	0	0	0	0	2	1	1	135	569	0	118	2								-2.942025	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BSG	682	broad.mit.edu	37	19	578071	578071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:578071C>T	ENST00000333511.3	+	2	435	c.365C>T	c.(364-366)gCg>gTg	p.A122V	BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)			5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CTGACCCGGGCGCCCAGGGTC	0.687000																								0							SO:0001583	missense			ENST00000333511.3	1	1	hg19	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018309	0.35606	.	.	ENSG00000172270	ENST00000333511	T	0.60040	0.22	2.86	-0.386	0.12466	.	0.880482	0.09736	N	0.762478	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	P	0.51057	0.941	B	0.24701	0.055	T	0.16719	-1.0393	10	0.16896	T	0.51	-0.2264	4.1335	0.10160	0.0:0.3412:0.3477:0.3111	.	122	P35613	BASI_HUMAN	V	122	ENSP00000333769:A122V	ENSP00000333769:A122V	A	+	2	0	BSG	529071	0.001000	0.12720	0.817000	0.32601	0.975000	0.68041	-0.018000	0.12568	0.286000	0.22352	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	1	0	1	27	102	0	21	1	2.921728e-01	2	3	0	21	2		0	0	0	0	0	2	1	1	27	100	0	21	2								-20.000000	1	1	120152	4	30	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF543	125919	broad.mit.edu	37	19	57839196	57839196	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57839196G>T	ENST00000321545.4	+	4	711	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543			28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			GGCAATCCAAGGATCAGGATG	0.507000																								0							SO:0001583	missense			ENST00000321545.4	1	1	hg19	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217578	0.06101	.	.	ENSG00000178229	ENST00000321545	T	0.27890	1.64	2.87	0.42	0.16444	.	.	.	.	.	T	0.18509	0.0444	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23547	-1.0185	9	0.27082	T	0.32	.	5.6372	0.17544	0.1319:0.2037:0.6644:0.0	.	122	Q08ER8	ZN543_HUMAN	N	122	ENSP00000322545:K122N	ENSP00000322545:K122N	K	+	3	2	ZNF543	62531008	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	0.122000	0.15687	0.544000	0.28883	0.555000	0.69702	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	1	0	1	53	233	0	59	0	5.815197e-01	0	10	0	59	2		0	0	0	0	0	2	1	1	52	226	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF543	125919	broad.mit.edu	37	19	57840074	57840074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840074G>A	ENST00000321545.4	+	4	1589	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543			28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			CAGCATCAACGGATTCACACT	0.493000																								0							SO:0001583	missense			ENST00000321545.4	1	1	hg19	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274758	0.40194	.	.	ENSG00000178229	ENST00000321545	T	0.24723	1.84	2.89	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34861	0.0912	L	0.38692	1.165	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.09530	-1.0670	9	0.87932	D	0	.	5.2016	0.15267	0.1188:0.0:0.6736:0.2076	.	415	Q08ER8	ZN543_HUMAN	Q	415	ENSP00000322545:R415Q	ENSP00000322545:R415Q	R	+	2	0	ZNF543	62531886	0.000000	0.05858	0.172000	0.22920	0.509000	0.34042	-0.031000	0.12287	0.510000	0.28216	-0.310000	0.09108	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	1	0	1	47	245	1	70	1	6.016535e-01	5	7	1	70	2		0	0	0	0	0	2	1	1	47	240	0	70	2								-3.164834	1	1	121412	4	36	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR22	163154	broad.mit.edu	37	19	5784052	5784052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5784052G>A	ENST00000419421.2	-	3	310	c.206C>T	c.(205-207)gCc>gTc	p.A69V	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22			5					CCCGCATGGGGCCATCTGGAA	0.667000																								0							SO:0001583	missense			ENST00000419421.2	1	1	hg19	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113600	0.77210	.	.	ENSG00000212123	ENST00000419421	T	0.25912	1.77	4.58	4.58	0.56647	.	.	.	.	.	T	0.36608	0.0973	L	0.32530	0.975	0.33362	D	0.57249	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.46317	-0.9200	9	0.66056	D	0.02	-12.7944	8.4815	0.33045	0.1051:0.0:0.8949:0.0	.	69;67	E9PB31;Q8IZ63	.;PRR22_HUMAN	V	69	ENSP00000407653:A69V	ENSP00000407653:A69V	A	-	2	0	PRR22	5735052	1.000000	0.71417	0.949000	0.38748	0.910000	0.53928	4.060000	0.57477	2.373000	0.80994	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	1	0	0	49	399	0	84	0	1.377901e-01	1	5	0	84	2		0	0	0	0	0	2	1	1	49	395	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.980000	1.000000	1.000000	0.998352	0.990000	1	9.900000e-01	1
DUS3L	56931	broad.mit.edu	37	19	5785800	5785800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5785800C>T	ENST00000309061.7	-	11	1661	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)			14					GAGCAGGGCGCCACTGTGGGA	0.662000																								0							SO:0001583	missense			ENST00000309061.7	0	1	hg19	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549753	0.65311	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.40756	1.02;1.02	4.26	4.26	0.50523	Aldolase-type TIM barrel (1);	0.057290	0.64402	D	0.000001	T	0.78666	0.4319	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87769	0.2604	10	0.87932	D	0	-12.2158	14.212	0.65771	0.0:1.0:0.0:0.0	.	280;522	Q96G46-3;Q96G46	.;DUS3L_HUMAN	D	522;280	ENSP00000311977:G522D;ENSP00000315558:G280D	ENSP00000311977:G522D	G	-	2	0	DUS3L	5736800	1.000000	0.71417	0.606000	0.28943	0.306000	0.27790	7.411000	0.80078	1.947000	0.56498	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	0	9	50	0	8	1	9.998887e-01	16	98	0	8	2		0	0	0	0	0	2	1	9.954557e-01	9	50	0	7	2								-17.330590	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.880000	1.000000	1.000000	0.993173	0.990000	1	9.900000e-01	1
ZNF304	57343	broad.mit.edu	37	19	57868033	57868033	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868033C>A	ENST00000282286.5	+	3	969	c.796C>A	c.(796-798)Ctt>Att	p.L266I	ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I|ZNF304_ENST00000391705.3_Missense_Mutation_p.L266I			Q9HCX3	ZN304_HUMAN	zinc finger protein 304			26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			GAAATCAGCTCTTATTAATCA	0.433000																								0							SO:0001583	missense			ENST00000282286.5	1	1	hg19	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.307999	0.40895	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.27104	1.69;1.69;1.69	3.7	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38983	0.1061	M	0.89534	3.04	0.09310	N	1	B;B	0.12630	0.006;0.005	B;B	0.25140	0.058;0.015	T	0.42515	-0.9447	9	0.72032	D	0.01	.	10.8293	0.46650	0.0:0.9012:0.0:0.0988	.	266;313	Q9HCX3;E7EQD3	ZN304_HUMAN;.	I	266;266;313	ENSP00000282286:L266I;ENSP00000375586:L266I;ENSP00000401642:L313I	ENSP00000282286:L266I	L	+	1	0	ZNF304	62559845	0.000000	0.05858	0.008000	0.14137	0.578000	0.36192	-0.166000	0.09954	1.150000	0.42419	0.454000	0.30748	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1	1	0	1	61	327	0	58	0	2.453848e-01	0	6	0	58	2		0	0	0	0	0	2	1	1	55	320	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF304	57343	broad.mit.edu	37	19	57868238	57868238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868238C>T	ENST00000282286.5	+	3	1174	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F|ZNF304_ENST00000391705.3_Missense_Mutation_p.S334F			Q9HCX3	ZN304_HUMAN	zinc finger protein 304			26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			GGAGAAAGATCTTATGACTGC	0.463000																								0							SO:0001583	missense			ENST00000282286.5	1	1	hg19	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359686	0.41801	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15487	5.19;5.19;2.42	3.72	0.211	0.15236	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26955	0.0660	M	0.62016	1.91	0.09310	N	1	P;D	0.67145	0.94;0.996	P;P	0.57548	0.459;0.823	T	0.11203	-1.0597	9	0.87932	D	0	.	4.4656	0.11687	0.159:0.5608:0.0:0.2802	.	334;381	Q9HCX3;E7EQD3	ZN304_HUMAN;.	F	334;334;381	ENSP00000282286:S334F;ENSP00000375586:S334F;ENSP00000401642:S381F	ENSP00000282286:S334F	S	+	2	0	ZNF304	62560050	0.000000	0.05858	0.001000	0.08648	0.886000	0.51366	0.325000	0.19628	0.156000	0.19299	-0.225000	0.12378	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1	1	0	1	55	254	0	65	0	6.592925e-01	0	12	0	65	2		0	0	0	0	0	2	1	1	52	249	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUS3L	56931	broad.mit.edu	37	19	5786851	5786851	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5786851G>A	ENST00000309061.7	-	9	1491	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Silent_p.H223H	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)			14					GAGAGCGGCCGTGGAGCTGGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000309061.7	0	1	hg19	CCDS32880.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	1	20	76	0	10	1	9.986503e-01	13	32	0	10	2		0	0	0	0	0	2	1	9.999975e-01	20	74	0	10	2								-20.000000	1	1	120686	1	24	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
ZNF304	57343	broad.mit.edu	37	19	57868604	57868604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868604T>C	ENST00000282286.5	+	3	1540	c.1367T>C	c.(1366-1368)tTt>tCt	p.F456S	ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S|ZNF304_ENST00000391705.3_Missense_Mutation_p.F456S			Q9HCX3	ZN304_HUMAN	zinc finger protein 304			26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			GGGAAGGCCTTTGGCTGCAAA	0.473000																								0							SO:0001583	missense			ENST00000282286.5	1	1	hg19	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145511	0.57044	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.47869	0.83;0.83;0.83	3.77	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61677	0.2366	M	0.86740	2.835	0.26755	N	0.970128	D;D	0.63880	0.993;0.992	P;P	0.55999	0.789;0.638	T	0.53781	-0.8390	9	0.72032	D	0.01	.	5.4267	0.16429	0.1544:0.0917:0.0:0.7539	.	456;503	Q9HCX3;E7EQD3	ZN304_HUMAN;.	S	456;456;503	ENSP00000282286:F456S;ENSP00000375586:F456S;ENSP00000401642:F503S	ENSP00000282286:F456S	F	+	2	0	ZNF304	62560416	1.000000	0.71417	0.025000	0.17156	0.950000	0.60333	7.141000	0.77330	0.255000	0.21593	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1	1	0	1	79	405	0	104	0	5.572168e-01	0	11	0	104	2		0	0	0	0	0	2	1	1	78	397	0	104	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUS3L	56931	broad.mit.edu	37	19	5789522	5789522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5789522C>T	ENST00000309061.7	-	3	692	c.596G>A	c.(595-597)cGc>cAc	p.R199H	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)			14					CTGGGTCCCGCGGGCCGCCAA	0.716000																								0							SO:0001583	missense			ENST00000309061.7	1	1	hg19	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	4.977	0.181424	0.09495	.	.	ENSG00000141994	ENST00000309061	T	0.18174	2.23	3.46	-0.567	0.11763	.	0.476605	0.20383	N	0.093420	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27157	-1.0082	10	0.39692	T	0.17	-30.0716	6.8336	0.23923	0.0:0.3103:0.0:0.6897	.	199	Q96G46	DUS3L_HUMAN	H	199	ENSP00000311977:R199H	ENSP00000311977:R199H	R	-	2	0	DUS3L	5740522	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.723000	0.04952	-0.333000	0.08476	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	0	17	90	0	19	0	4.474291e-01	1	8	0	19	2		0	0	0	0	0	2	1	9.999793e-01	17	90	0	17	2								-20.000000	1	1	119804	10	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999384	0.990000	1	9.900000e-01	1
DUS3L	56931	broad.mit.edu	37	19	5790078	5790078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5790078G>T	ENST00000309061.7	-	2	463	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)			14					GAGGGACACAGCCTGTTCTTG	0.612000																								0							SO:0001583	missense			ENST00000309061.7	0	1	hg19	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331403	0.60853	.	.	ENSG00000141994	ENST00000309061	T	0.30981	1.51	4.74	0.0836	0.14434	Zinc finger, CCCH-type (1);	0.000000	0.64402	D	0.000003	T	0.51702	0.1690	M	0.84219	2.685	0.45415	D	0.998391	D	0.76494	0.999	D	0.72625	0.978	T	0.53753	-0.8394	10	0.72032	D	0.01	-14.9503	9.1683	0.37065	0.341:0.0:0.659:0.0	.	123	Q96G46	DUS3L_HUMAN	M	123	ENSP00000311977:L123M	ENSP00000311977:L123M	L	-	1	2	DUS3L	5741078	1.000000	0.71417	0.073000	0.20177	0.876000	0.50452	4.223000	0.58587	0.172000	0.19760	-0.794000	0.03295	CTG		TCGA-IB-7651-01A-11D-2154-08	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	1	20	246	0	58	1	9.889477e-01	12	80	0	58	2		0	0	0	0	0	2	1	9.999946e-01	19	239	0	58	2								-19.999990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.910000	0.570000	1.000000	1.000000	0.881700	0.910000	1	7.200000e-01	1
ZNF749	388567	broad.mit.edu	37	19	57954768	57954768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954768G>A	ENST00000334181.4	+	3	502	c.252G>A	c.(250-252)caG>caA	p.Q84Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749			13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TGAAGGCCCAGCCCTGCAAGA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000334181.4	1	1	hg19	CCDS33132.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	1	54	181	0	54	0	1.377669e-01	0	3	0	54	2		0	0	0	0	0	2	1	1	54	180	0	54	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF749	388567	broad.mit.edu	37	19	57954793	57954793	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954793C>A	ENST00000334181.4	+	3	527	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749			13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TAGCTCAATTCTGAAGGACAT	0.512000																								0							SO:0001583	missense			ENST00000334181.4	1	1	hg19	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523956	0.27299	.	.	ENSG00000186230	ENST00000334181;ENST00000415248	T;T	0.61274	3.17;0.12	1.87	-2.06	0.07298	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.59932	0.2230	M	0.61703	1.905	0.09310	N	1	D	0.56287	0.975	P	0.58013	0.831	T	0.50980	-0.8763	9	0.46703	T	0.11	.	2.2326	0.04000	0.2506:0.3665:0.0:0.3828	.	93	O43361	ZN749_HUMAN	M	93;6	ENSP00000333980:L93M;ENSP00000397745:L6M	ENSP00000333980:L93M	L	+	1	2	ZNF749	62646605	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.426000	0.01027	-0.683000	0.05190	0.313000	0.20887	CTG		TCGA-IB-7651-01A-11D-2154-08	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	1	56	211	0	63	0	1.159461e-01	1	2	0	63	2		0	0	0	0	0	2	1	1	56	209	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF749	388567	broad.mit.edu	37	19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749			13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TATTAAATATCAGCAAAATCA	0.413000																								0							SO:0001587	stop_gained			ENST00000334181.4	0	1	hg19	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005683	0.74932	.	.	ENSG00000186230	ENST00000334181	.	.	.	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.1978	0.20559	0.2992:0.7008:0.0:0.0	.	.	.	.	X	243	.	ENSP00000333980:Q243X	Q	+	1	0	ZNF749	62647055	0.000000	0.05858	0.012000	0.15200	0.330000	0.28571	-0.190000	0.09615	1.243000	0.43853	0.305000	0.20034	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	1	52	222	0	73	0	9.749325e-02	0	3	0	73	2		0	0	0	0	0	2	1	1	52	215	0	73	2								-3.335180	1	1	121412	39	46	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF749	388567	broad.mit.edu	37	19	57955694	57955694	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955694A>G	ENST00000334181.4	+	3	1428	c.1178A>G	c.(1177-1179)cAc>cGc	p.H393R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749			13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TTCTTTAGTCACCGCTCCACA	0.423000																								0							SO:0001583	missense			ENST00000334181.4	1	1	hg19	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	0.238	-1.015811	0.02078	.	.	ENSG00000186230	ENST00000334181	T	0.17691	2.26	1.73	-0.556	0.11803	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.02865	-0.47	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.42430	-0.9452	9	0.21540	T	0.41	.	6.2028	0.20585	0.5547:0.0:0.4453:0.0	.	393	O43361	ZN749_HUMAN	R	393	ENSP00000333980:H393R	ENSP00000333980:H393R	H	+	2	0	ZNF749	62647506	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	-1.884000	0.01622	-0.249000	0.09569	0.164000	0.16699	CAC		TCGA-IB-7651-01A-11D-2154-08	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	1	81	409	0	93	0	7.463600e-02	1	2	0	93	2		0	0	0	0	0	2	1	1	76	399	0	93	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF749	388567	broad.mit.edu	37	19	57956765	57956765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956765C>A	ENST00000334181.4	+	3	2499	c.2249C>A	c.(2248-2250)tCt>tAt	p.S750Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749			13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			GGAGAAAGGTCTTATGAGTGT	0.398000																								0							SO:0001583	missense			ENST00000334181.4	1	1	hg19	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	-	6.715	0.500702	0.12822	.	.	ENSG00000186230	ENST00000334181	T	0.01647	4.71	1.59	-0.791	0.10929	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	L	0.55103	1.725	0.09310	N	0.999996	B	0.23540	0.087	B	0.14578	0.011	T	0.39482	-0.9612	9	0.87932	D	0	.	5.8944	0.18931	0.0:0.55:0.0:0.45	.	750	O43361	ZN749_HUMAN	Y	750	ENSP00000333980:S750Y	ENSP00000333980:S750Y	S	+	2	0	ZNF749	62648577	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.050000	0.14120	-0.160000	0.11002	-0.657000	0.03884	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	1	83	409	0	93	0	2.919887e-02	1	1	0	93	2		0	0	0	0	0	2	1	1	82	401	0	93	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF749	388567	broad.mit.edu	37	19	57956804	57956804	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956804A>C	ENST00000334181.4	+	3	2538	c.2288A>C	c.(2287-2289)aAc>aCc	p.N763T	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749			13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TTTAAATACAACTCCAGCCTC	0.408000																								0							SO:0001583	missense			ENST00000334181.4	1	1	hg19	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	-	7.354	0.623424	0.14193	.	.	ENSG00000186230	ENST00000334181	T	0.01572	4.76	1.22	-0.00992	0.13998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.35487	1.065	0.09310	N	1	B	0.17852	0.024	B	0.18263	0.021	T	0.49244	-0.8960	9	0.20046	T	0.44	.	2.5274	0.04695	0.3435:0.2964:0.3602:0.0	.	763	O43361	ZN749_HUMAN	T	763	ENSP00000333980:N763T	ENSP00000333980:N763T	N	+	2	0	ZNF749	62648616	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.267000	0.01170	-0.063000	0.13065	0.172000	0.16884	AAC		TCGA-IB-7651-01A-11D-2154-08	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	1	0	1	71	381	0	102	0	2.443880e-01	1	5	0	102	2		0	0	0	0	0	2	1	1	71	374	0	102	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF419	79744	broad.mit.edu	37	19	58004803	58004803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004803G>A	ENST00000221735.7	+	5	1064	c.878G>A	c.(877-879)gGa>gAa	p.G293E	ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E|ZNF419_ENST00000424930.2_Missense_Mutation_p.G294E|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E			Q96HQ0	ZN419_HUMAN	zinc finger protein 419			26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)			AGTGAATGTGGAAAAGCTTTC	0.418000																								0							SO:0001583	missense			ENST00000221735.7	1	1	hg19	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947702	0.53186	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;3.22;2.01;2.01	2.43	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34193	0.0889	L	0.45470	1.425	0.34922	D	0.748533	D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.995;1.0;0.995	P;D;D;D;P;D;P	0.97110	0.665;0.999;1.0;0.999;0.833;0.999;0.833	T	0.46735	-0.9170	9	0.62326	D	0.03	.	8.495	0.33123	0.1393:0.0:0.8607:0.0	.	247;247;280;281;294;261;293	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	E	268;294;281;281;280;294;261;247;293	ENSP00000388864:G294E;ENSP00000390916:G281E;ENSP00000346136:G281E;ENSP00000414709:G280E;ENSP00000299860:G261E;ENSP00000392129:G247E;ENSP00000221735:G293E	ENSP00000221735:G293E	G	+	2	0	ZNF419	62696615	0.998000	0.40836	0.437000	0.26809	0.921000	0.55340	2.382000	0.44345	1.340000	0.45581	0.205000	0.17691	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	1	0	1	88	388	0	106	0	1.600752e-01	0	4	0	106	2		0	0	0	0	0	2	1	1	86	380	0	107	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF773	374928	broad.mit.edu	37	19	58018058	58018058	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018058G>A	ENST00000282292.4	+	4	735	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773			22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			ATGTGGGAAAGCCTTTGGTCA	0.453000																								0							SO:0001583	missense			ENST00000282292.4	1	1	hg19	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.618	-0.522152	0.04171	.	.	ENSG00000152439	ENST00000282292	T	0.00848	5.62	1.25	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	N	0.20845	0.615	0.09310	N	1	B;P	0.34562	0.095;0.457	B;B	0.31390	0.026;0.129	T	0.48801	-0.9003	9	0.26408	T	0.33	.	3.5081	0.07698	0.0:0.2776:0.442:0.2804	.	198;199	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	T	199	ENSP00000282292:A199T	ENSP00000282292:A199T	A	+	1	0	ZNF773	62709870	0.000000	0.05858	0.027000	0.17364	0.680000	0.39746	-2.333000	0.01108	0.992000	0.38840	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	1	0	1	54	247	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	1	52	240	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF773	374928	broad.mit.edu	37	19	58018743	58018743	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018743G>A	ENST00000282292.4	+	4	1420	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773			22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TTTCGCCACAGCTCCAGTCTT	0.413000																								0							SO:0001583	missense			ENST00000282292.4	1	1	hg19	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.733	-0.493537	0.04322	.	.	ENSG00000152439	ENST00000282292	T	0.10477	2.87	1.03	-0.784	0.10954	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09642	0.0237	L	0.58510	1.815	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.0	T	0.38993	-0.9635	9	0.23302	T	0.38	.	5.3128	0.15839	0.4788:0.0:0.5212:0.0	.	426;427	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	N	427	ENSP00000282292:S427N	ENSP00000282292:S427N	S	+	2	0	ZNF773	62710555	0.000000	0.05858	0.097000	0.21041	0.949000	0.60115	-2.597000	0.00894	-0.237000	0.09739	0.305000	0.20034	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	1	0	1	91	339	0	73	0	7.110999e-01	0	11	0	73	2		0	0	0	0	0	2	1	1	90	332	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF549	256051	broad.mit.edu	37	19	58048598	58048598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58048598G>T	ENST00000376233.3	+	4	407	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549			21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			AGAGGCTGAGGAGGCCCCTTC	0.463000																								0							SO:0001587	stop_gained			ENST00000376233.3	0	1	hg19	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604444	0.66445	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.28	0.8	0.18672	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.1166	0.10084	0.2989:0.0:0.7011:0.0	.	.	.	.	X	63;76	.	ENSP00000240719:E63X	E	+	1	0	ZNF549	62740410	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.050000	0.14120	0.260000	0.21731	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	1	0	1	93	395	0	91	0	3.246837e-01	0	6	0	91	2		0	0	0	0	0	2	1	1	93	384	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF549	256051	broad.mit.edu	37	19	58049123	58049123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58049123G>T	ENST00000376233.3	+	4	932	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549			21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TAAGCGTAGGGAATATGGGAA	0.368000																								0							SO:0001587	stop_gained			ENST00000376233.3	0	1	hg19	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339716	0.81911	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.62	-3.36	0.04913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.5826	0.12266	0.2336:0.3431:0.4233:0.0	.	.	.	.	X	238;251	.	ENSP00000240719:E238X	E	+	1	0	ZNF549	62740935	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.119000	0.10676	-0.785000	0.04522	0.555000	0.69702	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	1	0	1	101	445	0	109	0	6.315808e-01	0	11	0	109	2		0	0	0	0	0	2	1	1	100	437	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF550	162972	broad.mit.edu	37	19	58058796	58058796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58058796C>T	ENST00000457177.1	-	4	996	c.816G>A	c.(814-816)tcG>tcA	p.S272S	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000325134.5_Silent_p.S240S|ZNF550_ENST00000506609.2_Silent_p.S231S			Q7Z398	ZN550_HUMAN	zinc finger protein 550			7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			GCATGAGGTACGACCTGCGTT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000457177.1	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	0	0	1	70	260	0	52	0	7.124666e-01	0	11	0	52	2		0	0	0	0	0	2	1	1	69	257	0	52	2								-3.880502	1	1	121410	8	32	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF550	162972	broad.mit.edu	37	19	58059348	58059348	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58059348T>G	ENST00000457177.1	-	4	444	c.264A>C	c.(262-264)caA>caC	p.Q88H	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000325134.5_Missense_Mutation_p.Q56H|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H			Q7Z398	ZN550_HUMAN	zinc finger protein 550			7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TGGTATGAACTTGTGCTCTGT	0.448000																								0							SO:0001583	missense			ENST00000457177.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.70	2.314786	0.40996	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.22743	1.94;1.94	3.72	1.54	0.23209	.	.	.	.	.	T	0.16085	0.0387	L	0.32530	0.975	0.09310	N	1	P	0.39624	0.681	B	0.41946	0.371	T	0.16276	-1.0408	9	0.56958	D	0.05	.	3.8379	0.08902	0.0:0.1185:0.2194:0.6621	.	56	Q7Z398-2	.	H	88;56;47	ENSP00000446224:Q56H;ENSP00000422344:Q47H	ENSP00000446224:Q56H	Q	-	3	2	AC003682.1	62751160	0.000000	0.05858	0.001000	0.08648	0.123000	0.20343	-0.094000	0.11094	0.138000	0.18790	0.533000	0.62120	CAA		TCGA-IB-7651-01A-11D-2154-08	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	0	0	0	111	525	0	140	0	7.648182e-01	0	15	0	140	2		0	0	0	0	0	2	1	1	110	515	0	140	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF416	55659	broad.mit.edu	37	19	58083494	58083494	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58083494A>C	ENST00000196489.3	-	4	2000	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416			22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)			GAGTTAAACAATGTTAGATCT	0.458000																								0							SO:0001583	missense			ENST00000196489.3	1	1	hg19	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	A	8.822	0.937800	0.18206	.	.	ENSG00000083817	ENST00000196489	T	0.07444	3.19	3.15	-0.543	0.11851	.	.	.	.	.	T	0.06962	0.0177	L	0.39898	1.24	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.35525	-0.9785	9	0.87932	D	0	.	4.7548	0.13078	0.5167:0.3727:0.1106:0.0	.	593	Q9BWM5	ZN416_HUMAN	S	593	ENSP00000196489:I593S	ENSP00000196489:I593S	I	-	2	0	ZNF416	62775306	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.512000	0.35812	-0.348000	0.08286	-0.411000	0.06167	ATT		TCGA-IB-7651-01A-11D-2154-08	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	1	0	1	135	693	0	177	0	3.844018e-01	0	8	0	177	2		0	0	0	0	0	2	1	1	133	684	0	173	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIK1	284307	broad.mit.edu	37	19	58101631	58101631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58101631G>A	ENST00000597850.1	+	4	667	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K|ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1			34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)			GACATGGACAGAGCCTCATAT	0.493000																								0							SO:0001583	missense			ENST00000597850.1	1	1	hg19	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	6.463	0.453628	0.12283	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05081	3.5	2.84	-3.46	0.04767	.	.	.	.	.	T	0.03651	0.0104	L	0.28649	0.875	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.48581	-0.9023	9	0.06891	T	0.86	.	7.6484	0.28334	0.6221:0.0:0.3779:0.0	.	138;151	F5H435;Q3SY52	.;ZIK1_HUMAN	K	138;132;151	ENSP00000438487:R138K	ENSP00000303820:R151K	R	+	2	0	ZIK1	62793443	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.568000	0.05909	-0.689000	0.05149	-0.391000	0.06502	AGA		TCGA-IB-7651-01A-11D-2154-08	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	1	0	1	59	281	0	66	0	7.616052e-01	0	15	0	66	2		0	0	0	0	0	2	1	1	58	273	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF530	348327	broad.mit.edu	37	19	58117676	58117676	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58117676C>T	ENST00000332854.6	+	3	1003	c.783C>T	c.(781-783)caC>caT	p.H261H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530			20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)			GGAAAGCACACGGTAGAACAA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000332854.6	1	1	hg19	CCDS12955.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	1	0	1	81	336	0	63	0	3.867485e-02	0	2	0	63	2		0	0	0	0	0	2	1	1	81	331	0	63	2								-3.299873	1	1	121412	5	36	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF134	7693	broad.mit.edu	37	19	58132057	58132057	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58132057A>G	ENST00000396161.5	+	3	880	c.570A>G	c.(568-570)acA>acG	p.T190T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134			11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)			GCAAAGACACACTTGTCCAGC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000396161.5	1	1	hg19	CCDS42638.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	0	0	1	54	223	1	63	0	8.668174e-01	0	24	1	63	3		0	0	0	0	0	2	1	9.999999e-01	54	218	1	63	15								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF211	10520	broad.mit.edu	37	19	58152484	58152484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58152484G>A	ENST00000347302.3	+	3	809	c.630G>A	c.(628-630)gaG>gaA	p.E210E	ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000299871.5_Silent_p.E275E|ZNF211_ENST00000240731.4_Silent_p.E223E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000544273.1_Silent_p.E222E	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211			26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			AAACAGGGGAGAAGCCAAATA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000347302.3	1	1	hg19	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029395	0.19512	.	.	ENSG00000121417	ENST00000407202	T	0.19806	2.12	3.24	1.01	0.19927	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22941	-1.0202	6	0.54805	T	0.06	.	5.2711	0.15624	0.1047:0.0:0.5413:0.354	.	.	.	.	K	214	ENSP00000384436:E214K	ENSP00000384436:E214K	E	+	1	0	ZNF211	62844296	0.000000	0.05858	0.006000	0.13384	0.702000	0.40608	0.297000	0.19101	0.371000	0.24564	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1	1	0	1	59	228	0	65	0	9.217579e-01	1	18	0	65	2		0	0	0	0	0	2	1	1	56	226	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN4	201516	broad.mit.edu	37	19	58189722	58189722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58189722G>A	ENST00000318203.5	+	5	1448	c.751G>A	c.(751-753)Gct>Act	p.A251T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4			30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			GCTAGTCACTGCTAGATCTCA	0.493000																								0							SO:0001583	missense			ENST00000318203.5	1	1	hg19	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188453	0.21954	.	.	ENSG00000180532	ENST00000318203	T	0.06849	3.25	3.81	-2.06	0.07298	.	2.348450	0.01409	N	0.013930	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.33803	-0.9854	10	0.21014	T	0.42	0.1009	4.7069	0.12855	0.0:0.3152:0.3616:0.3232	.	251	Q8NAM6	ZSCA4_HUMAN	T	251	ENSP00000321963:A251T	ENSP00000321963:A251T	A	+	1	0	ZSCAN4	62881534	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.181000	0.03085	-0.538000	0.06281	-0.262000	0.10625	GCT		TCGA-IB-7651-01A-11D-2154-08	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	1	0	1	49	239	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	49	231	0	58	2								-3.272292	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN4	201516	broad.mit.edu	37	19	58190148	58190148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58190148G>T	ENST00000318203.5	+	5	1874	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4			30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			CCACACAGGAGAAAAGCCTTA	0.453000																								0							SO:0001587	stop_gained			ENST00000318203.5	0	1	hg19	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	44	10.753146	0.99461	.	.	ENSG00000180532	ENST00000318203	.	.	.	4.88	4.88	0.63580	.	0.441828	0.19597	N	0.110492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.1709	17.3303	0.87261	0.0:0.0:1.0:0.0	.	.	.	.	X	393	.	ENSP00000321963:E393X	E	+	1	0	ZSCAN4	62881960	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	3.907000	0.56348	2.699000	0.92147	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	1	0	1	141	652	0	155		0	0	0	0	155	2		0	0	0	0	0	2	1	1	140	645	0	154	2								-3.346053	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BSG	682	broad.mit.edu	37	19	582313	582313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:582313C>T	ENST00000333511.3	+	7	1147	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	BSG_ENST00000346916.4_Silent_p.D179D|BSG_ENST00000353555.4_Silent_p.D243D|BSG_ENST00000545507.2_Silent_p.D150D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)			5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CAGATGACGACGCCGGCTCTG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000333511.3	1	1	hg19	CCDS12033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	1	0	0	89	315	0	68	1	1	831	1901	0	68	2		0	0	0	0	0	2	1	1	89	309	0	67	2								-20.000000	1	1	120764	10	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF671	79891	broad.mit.edu	37	19	58232036	58232036	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232036T>G	ENST00000317398.6	-	4	1513	c.1418A>C	c.(1417-1419)cAc>cCc	p.H473P	ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671			22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			TTCTCCAGAGTGAACTTTCTG	0.473000																								0							SO:0001583	missense			ENST00000317398.6	1	1	hg19	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844404	0.51164	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.67698	-0.28;-0.28	1.73	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82522	0.5055	M	0.92880	3.355	0.37259	D	0.906888	D	0.76494	0.999	D	0.91635	0.999	D	0.84303	0.0506	9	0.87932	D	0	.	7.4287	0.27115	0.0:0.0:0.0:1.0	.	473	Q8TAW3	ZN671_HUMAN	P	473;375	ENSP00000321848:H473P;ENSP00000338670:H375P	ENSP00000321848:H473P	H	-	2	0	ZNF671	62923848	1.000000	0.71417	0.024000	0.17045	0.981000	0.71138	6.306000	0.72810	1.042000	0.40150	0.383000	0.25322	CAC		TCGA-IB-7651-01A-11D-2154-08	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	1	0	1	112	479	0	110	0	8.778260e-01	0	18	0	110	2		0	0	0	0	0	2	1	1	111	467	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF671	79891	broad.mit.edu	37	19	58238764	58238764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58238764C>T	ENST00000317398.6	-	1	228	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671			22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			CCCACCCGCGCGGAGTCCGTT	0.682000																								0							SO:0001583	missense			ENST00000317398.6	1	1	hg19	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	3.613	-0.079148	0.07141	.	.	ENSG00000083814	ENST00000317398	T	0.00801	5.68	1.45	-1.0	0.10196	Krueppel-associated box (1);	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.20196	N	0.999923	P	0.45396	0.857	B	0.21360	0.034	T	0.46105	-0.9215	9	0.22109	T	0.4	.	2.0183	0.03503	0.3123:0.4741:0.0:0.2136	.	45	Q8TAW3	ZN671_HUMAN	T	45	ENSP00000321848:A45T	ENSP00000321848:A45T	A	-	1	0	ZNF671	62930576	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.950000	0.29122	-0.217000	0.10033	-0.373000	0.07131	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	1	0	1	36	125	0	35	0	4.932084e-01	0	7	0	35	2		0	0	0	0	0	2	1	1	36	125	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF776	284309	broad.mit.edu	37	19	58262226	58262226	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58262226G>A	ENST00000317178.5	+	2	370	c.107G>A	c.(106-108)aGa>aAa	p.R36K	ZNF776_ENST00000431353.1_Missense_Mutation_p.R36K|AC003006.7_ENST00000594684.1_Missense_Mutation_p.R36K	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776			31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			GAGGCTCAGAGATGCCTTTAT	0.473000																								0							SO:0001583	missense			ENST00000317178.5	1	1	hg19	CCDS12962.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.616021|2.616021	0.46631|0.46631	.|.	.|.	ENSG00000152443|ENSG00000152443	ENST00000451849|ENST00000317178;ENST00000431353	.|T;T	.|0.01685	.|4.69;4.69	1.5|1.5	1.5|1.5	0.22942|0.22942	.|Krueppel-associated box (4);	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	L|L	0.37561|0.37561	1.115|1.115	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.994	T|T	0.49263|0.49263	-0.8958|-0.8958	5|9	.|0.30854	.|T	.|0.27	.|.	6.4096|6.4096	0.21684|0.21684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|36;36	.|Q68DI1;B4DSC6	.|ZN776_HUMAN;.	N|K	19|36	.|ENSP00000321812:R36K;ENSP00000405772:R36K	.|ENSP00000321812:R36K	D|R	+|+	1|2	0|0	ZNF776|ZNF776	62954038|62954038	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.910000|0.910000	0.53928|0.53928	-0.429000|-0.429000	0.06982|0.06982	1.151000|1.151000	0.42436|0.42436	0.313000|0.313000	0.20887|0.20887	GAT|AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	1	0	1	73	377	0	102	0	6.493392e-01	0	13	0	102	2		0	0	0	0	0	2	1	1	71	367	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF586	54807	broad.mit.edu	37	19	58290546	58290546	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58290546G>A	ENST00000396154.2	+	3	764	c.591G>A	c.(589-591)agG>agA	p.R197R	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000396150.4_Missense_Mutation_p.G155E|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586			15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			TTAACCACAGGAAAGTTCACT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000396154.2	1	1	hg19	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	G	6.409	0.443595	0.12164	.	.	ENSG00000083828	ENST00000396150	T	0.04551	3.6	1.56	0.411	0.16392	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	0.999998	P	0.43231	0.801	P	0.47786	0.557	T	0.35992	-0.9766	8	0.29301	T	0.29	.	2.7407	0.05252	0.3539:0.2537:0.3924:0.0	.	155	A0JLV8	.	E	155	ENSP00000379454:G155E	ENSP00000379454:G155E	G	+	2	0	ZNF586	62982358	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.656000	0.05342	-0.015000	0.14150	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	1	0	1	93	452	0	126	0	6.770365e-01	0	13	0	126	2		0	0	0	0	0	2	1	1	94	447	0	126	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF552	79818	broad.mit.edu	37	19	58320176	58320176	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58320176C>A	ENST00000391701.1	-	3	625	c.456G>T	c.(454-456)gaG>gaT	p.E152D	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552			11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			ACAACGCCTCCTCAACACTCC	0.483000																								0							SO:0001583	missense			ENST00000391701.1	1	1	hg19	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.042238	0.00402	.	.	ENSG00000178935	ENST00000391701	T	0.04654	3.58	1.4	-1.37	0.09056	.	.	.	.	.	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	1	B;B	0.25169	0.119;0.0	B;B	0.28139	0.086;0.0	T	0.46925	-0.9156	9	0.06625	T	0.88	.	4.5962	0.12330	0.0:0.4734:0.3019:0.2246	.	148;152	B7Z1H1;Q9H707	.;ZN552_HUMAN	D	152	ENSP00000375582:E152D	ENSP00000375582:E152D	E	-	3	2	ZNF552	63011988	0.257000	0.24022	0.000000	0.03702	0.003000	0.03518	0.998000	0.29744	-0.283000	0.09115	0.205000	0.17691	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	1	0	1	101	530	0	107	1	9.909312e-01	8	32	0	107	2		0	0	0	0	0	2	1	1	96	515	0	112	2								-2.969074	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FUT6	2528	broad.mit.edu	37	19	5832292	5832292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5832292C>T	ENST00000318336.4	-	3	1481	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H|FUT6_ENST00000524754.1_Missense_Mutation_p.R96H|FUT6_ENST00000286955.5_Missense_Mutation_p.R96H	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)			6					ATACACCTTGCGGTCGGCAGT	0.627000																								0							SO:0001583	missense			ENST00000318336.4	1	1	hg19	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333141	0.60853	0.0	3.49E-4	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.09	3.09	0.35607	.	0.103025	0.39083	N	0.001471	T	0.52741	0.1753	M	0.83483	2.645	0.30186	N	0.799964	P;P	0.48350	0.909;0.574	P;P	0.52758	0.708;0.513	T	0.60939	-0.7163	10	0.87932	D	0	.	12.3817	0.55311	0.0:1.0:0.0:0.0	.	96;96	C9J8A2;P51993	.;FUT6_HUMAN	H	96	ENSP00000431708:R96H;ENSP00000432954:R96H;ENSP00000313398:R96H;ENSP00000286955:R96H;ENSP00000436547:R96H	ENSP00000286955:R96H	R	-	2	0	FUT6	5783292	0.001000	0.12720	0.376000	0.26042	0.020000	0.10135	-0.043000	0.12043	1.666000	0.50821	0.436000	0.28706	CGC		TCGA-IB-7651-01A-11D-2154-08	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	0	0	1	100	330	1	80	1	9.999675e-01	34	54	1	80	6		0	0	0	0	0	2	1	1	98	327	1	79	18								-4.427146	1	1	121412	6	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF256	10172	broad.mit.edu	37	19	58452630	58452630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58452630C>A	ENST00000282308.3	-	3	1742	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256			19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			TAAGGCCTTTCTCCAGTGTGA	0.463000													NSCLC(55;1313 1552 8040 11996)											0							SO:0001587	stop_gained			ENST00000282308.3	0	1	hg19	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	39	7.808358	0.98501	.	.	ENSG00000152454	ENST00000282308	.	.	.	2.66	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4272	0.32735	0.0:0.8724:0.0:0.1276	.	.	.	.	X	516	.	ENSP00000282308:E516X	E	-	1	0	ZNF256	63144442	0.000000	0.05858	0.006000	0.13384	0.969000	0.65631	0.933000	0.28897	0.434000	0.26340	0.467000	0.42956	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1	1	0	1	57	350	0	77	0	3.714220e-01	0	9	0	77	2		0	0	0	0	0	2	1	1	56	340	0	76	2								-19.999990	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
C19orf18	147685	broad.mit.edu	37	19	58470038	58470038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58470038C>A	ENST00000314391.3	-	6	681	c.580G>T	c.(580-582)Gag>Tag	p.E194*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18			8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			GAGTTTTGCTCTTCCTTCAGT	0.338000																								0							SO:0001587	stop_gained			ENST00000314391.3	0	1	hg19	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433390	0.25813	.	.	ENSG00000177025	ENST00000314391	.	.	.	3.14	-1.56	0.08532	.	.	.	.	.	.	.	.	.	.	.	0.36516	D	0.869866	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-40.216	3.3469	0.07139	0.0:0.4199:0.2063:0.3738	.	.	.	.	X	194	.	ENSP00000321519:E194X	E	-	1	0	C19orf18	63161850	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.002000	0.13061	-0.193000	0.10415	-0.350000	0.07774	GAG		TCGA-IB-7651-01A-11D-2154-08	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	1	0	1	15	125	0	28	0	0	0	1	0	28	2		0	0	0	0	0	2	1	9.998848e-01	15	122	0	28	2								-19.997880	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.770000	1.000000	1.000000	0.982378	0.990000	1	9.900000e-01	1
C19orf18	147685	broad.mit.edu	37	19	58477896	58477896	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58477896A>G	ENST00000314391.3	-	4	473		c.e4+1			NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18			8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			GCAGATACTTACTATATCATA	0.338000																								0							SO:0001630	splice_region_variant			ENST00000314391.3	1	1	hg19	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851034	0.51270	.	.	ENSG00000177025	ENST00000314391	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8207	0.40880	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf18	63169708	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.327000	0.52045	2.078000	0.62432	0.524000	0.50904	.		TCGA-IB-7651-01A-11D-2154-08	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	1	0	1	21	113	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.999982e-01	21	109	0	32	2								-13.118580	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999785	0.990000	1	9.900000e-01	1
ZNF606	80095	broad.mit.edu	37	19	58490209	58490209	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490209T>C	ENST00000341164.4	-	7	2459	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF606_ENST00000536132.1_Silent_p.K523K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606			26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			TTATCTCATGTTTAGTGAGGG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000341164.4	1	1	hg19	CCDS12968.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	1	101	427	0	95	0	7.419583e-01	0	13	0	95	2		0	0	0	0	0	2	1	1	100	422	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF606	80095	broad.mit.edu	37	19	58490360	58490360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490360G>T	ENST00000341164.4	-	7	2308	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	p.S563Y(2)		26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			TTTTGCTCCAGAATGAGTTCT	0.398000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000341164.4	1	1	hg19	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561739	0.45590	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.19938	2.11;2.11	4.71	4.71	0.59529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299887	0.24513	N	0.037875	T	0.35098	0.0920	L	0.43923	1.385	0.33955	D	0.64489	D	0.71674	0.998	D	0.66196	0.942	T	0.45469	-0.9259	10	0.87932	D	0	.	12.0649	0.53581	0.0:0.0:0.8273:0.1727	.	563	Q8WXB4	ZN606_HUMAN	Y	563;473	ENSP00000343617:S563Y;ENSP00000445624:S473Y	ENSP00000343617:S563Y	S	-	2	0	ZNF606	63182172	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.571000	0.53841	2.597000	0.87782	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	1	92	280	0	68	0	7.492336e-01	0	10	0	68	2		0	0	0	0	0	2	1	1	91	277	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF606	80095	broad.mit.edu	37	19	58490962	58490962	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490962A>G	ENST00000341164.4	-	7	1706	c.1086T>C	c.(1084-1086)caT>caC	p.H362H	ZNF606_ENST00000536132.1_Silent_p.H272H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606			26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			CAATTTTTTGATGTTCCATAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000341164.4	1	1	hg19	CCDS12968.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	1	111	399	0	91	0	6.151459e-01	1	8	0	91	2		0	0	0	0	0	2	1	1	109	388	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF606	80095	broad.mit.edu	37	19	58500015	58500015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58500015C>T	ENST00000341164.4	-	5	872	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNF606_ENST00000536132.1_5'UTR|ZNF606_ENST00000552579.1_5'Flank	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606			26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			GGTACAGGGTCCTCTGAACAA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000341164.4	1	1	hg19	CCDS12968.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	0	200	929	0	281	0	3.603083e-01	0	7	0	281	2		0	0	0	0	0	2	1	1	197	912	0	278	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN1	284312	broad.mit.edu	37	19	58551856	58551856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58551856A>G	ENST00000282326.1	+	4	656	c.409A>G	c.(409-411)Agt>Ggt	p.S137G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1			48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			CCAGGACTGGAGTTTCGGTGA	0.617000																								0							SO:0001583	missense			ENST00000282326.1	1	1	hg19	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605295	0.03717	.	.	ENSG00000152467	ENST00000282326	T	0.04360	3.64	1.09	-0.0961	0.13638	Transcription regulator SCAN (1);	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.44483	-0.9325	9	0.39692	T	0.17	.	3.2733	0.06889	0.7278:0.0:0.2722:0.0	.	137	Q8NBB4	ZSCA1_HUMAN	G	137	ENSP00000282326:S137G	ENSP00000282326:S137G	S	+	1	0	ZSCAN1	63243668	0.005000	0.15991	0.061000	0.19648	0.948000	0.59901	0.294000	0.19047	-0.098000	0.12285	0.260000	0.18958	AGT		TCGA-IB-7651-01A-11D-2154-08	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	1	0	0	70	905	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1	70	887	0	176	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.870000	0.670000	1.000000	1.000000	0.877536	0.870000	1	7.600000e-01	1
ZSCAN1	284312	broad.mit.edu	37	19	58565026	58565026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58565026C>T	ENST00000282326.1	+	6	1081	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1			48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			CTGTTGCAGGCATCTCGGTAG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000282326.1	1	1	hg19	CCDS12969.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	1	0	0	32	366	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	32	359	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.680000	1.000000	1.000000	0.931333	0.990000	1	8.200000e-01	1
ZNF135	7694	broad.mit.edu	37	19	58578888	58578888	+	Nonsense_Mutation	SNP	C	C	T	rs144688815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58578888C>T	ENST00000313434.5	+	5	1137	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.R304*|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135			41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)			CCAGCATCTGCGAATCCACAC	0.572000																								0							SO:0001587	stop_gained			ENST00000313434.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.54	1.968279	0.34754	2.27E-4	0.0	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.	.	.	3.19	-0.696	0.11287	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2145	0.01911	0.4005:0.3059:0.1603:0.1332	.	.	.	.	X	358;370;358;346;346;358;304	.	ENSP00000321406:R346X	R	+	1	2	ZNF135	63270700	0.000000	0.05858	0.659000	0.29680	0.005000	0.04900	-0.827000	0.04424	0.167000	0.19631	-0.302000	0.09304	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	1	0	1	45	215	0	61	0	2.146954e-01	0	5	0	61	2		0	0	0	0	0	2	1	1	44	208	0	60	2								-20.000000	1	1	121412	6	37	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF135	7694	broad.mit.edu	37	19	58579679	58579679	+	Silent	SNP	C	C	T	rs147006683	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579679C>T	ENST00000313434.5	+	5	1928	c.1827C>T	c.(1825-1827)caC>caT	p.H609H	ZNF135_ENST00000401053.4_Silent_p.H633H|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Silent_p.H609H|ZNF135_ENST00000506786.1_Silent_p.H567H|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Silent_p.H621H	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135			41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)			ATGAGTGTCACGATTGCGGAA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000313434.5	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.988039	0.00443	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.37	-1.32	0.09201	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	0.5468	0.00655	0.3476:0.1854:0.2947:0.1723	.	.	.	.	M	627	.	.	T	+	2	0	ZNF135	63271491	0.000000	0.05858	0.035000	0.18076	0.006000	0.05464	-3.165000	0.00576	-0.025000	0.13918	-1.120000	0.02017	ACG		TCGA-IB-7651-01A-11D-2154-08	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	1	0	0	18	454	0	102	0	3.057783e-02	0	7	0	102	2		0	0	0	0	0	2	1	9.999773e-01	17	441	0	103	2								-4.046563	1	0	121412	435	59	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.480000	0.280000	1.000000	0.450000	0.543564	0.480000	0	3.700000e-01	6.900000e-01
ZNF135	7694	broad.mit.edu	37	19	58579766	58579766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579766C>A	ENST00000313434.5	+	5	2015	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E|ZNF135_ENST00000506786.1_Missense_Mutation_p.D596E|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135			41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)			CATGCAGGGACTGTGGAAAGG	0.537000																								0							SO:0001583	missense			ENST00000313434.5	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.001|0.001	-3.152853|-3.152853	0.00028|0.00028	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000504540;ENST00000391699	T;T;T;T;T|.	0.07327|.	3.2;3.2;3.2;3.2;3.2|.	3.37|3.37	-0.525|-0.525	0.11917|0.11917	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.12263|0.12263	0.0298|0.0298	N|N	0.02674|0.02674	-0.535|-0.535	0.09310|0.09310	N|N	1|1	B;B|.	0.18610|.	0.0;0.029|.	B;B|.	0.21917|.	0.002;0.037|.	T|T	0.31530|0.31530	-0.9940|-0.9940	9|5	0.02654|.	T|.	1|.	.|.	7.2472|7.2472	0.26129|0.26129	0.5826:0.2715:0.1459:0.0|0.5826:0.2715:0.1459:0.0	.|.	650;638|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	E|N	662;638;638;650;596|370;656	ENSP00000441410:D662E;ENSP00000444828:D638E;ENSP00000321406:D638E;ENSP00000422074:D650E;ENSP00000427691:D596E|.	ENSP00000321406:D638E|.	D|T	+|+	3|2	2|0	ZNF135|ZNF135	63271578|63271578	0.000000|0.000000	0.05858|0.05858	0.797000|0.797000	0.32132|0.32132	0.014000|0.014000	0.08584|0.08584	-1.110000|-1.110000	0.03306|0.03306	0.237000|0.237000	0.21200|0.21200	-1.399000|-1.399000	0.01144|0.01144	GAC|ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	1	0	1	82	322	0	86	0	5.747724e-01	0	9	0	86	2		0	0	0	0	0	2	1	1	79	314	0	84	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN18	65982	broad.mit.edu	37	19	58596628	58596628	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58596628C>T	ENST00000240727.6	-	7	1356	c.957G>A	c.(955-957)tcG>tcA	p.S319S	ZSCAN18_ENST00000600404.1_Silent_p.S375S|ZSCAN18_ENST00000601144.1_Silent_p.S319S|ZSCAN18_ENST00000421612.2_Silent_p.S183S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18			19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)			CAGTGGTGCCCGACGGGGGAT	0.741000																								0							SO:0001819	synonymous_variant			ENST00000240727.6	1	1	hg19	CCDS12971.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	1	0	0	16	158	0	38	0	1.793692e-01	0	8	0	38	2		0	0	0	0	0	2	1	9.999419e-01	16	156	0	37	2								-19.997440	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.670000	1.000000	1.000000	0.957316	0.990000	1	8.800000e-01	1
ZNF329	79673	broad.mit.edu	37	19	58639295	58639295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639295G>T	ENST00000598312.1	-	4	1809	c.1576C>A	c.(1576-1578)Ctt>Att	p.L526I	ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329			20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)			TGTCGAACAAGGGATGAGCTC	0.512000																								0							SO:0001583	missense			ENST00000598312.1	1	1	hg19	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479140	0.44044	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.74947	-0.89;-0.89	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34828	N	0.003647	D	0.86855	0.6033	M	0.90650	3.135	0.21984	N	0.999434	D	0.76494	0.999	D	0.81914	0.995	T	0.78846	-0.2043	10	0.87932	D	0	-12.963	10.724	0.46057	0.0923:0.0:0.9077:0.0	.	526	Q86UD4	ZN329_HUMAN	I	526	ENSP00000350773:L526I;ENSP00000439527:L526I	ENSP00000350773:L526I	L	-	1	0	ZNF329	63331107	1.000000	0.71417	0.886000	0.34754	0.354000	0.29330	4.611000	0.61162	2.717000	0.92951	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	1	0	1	106	525	0	144	0	9.531195e-01	1	26	0	144	2		0	0	0	0	0	2	1	1	103	509	0	141	2								-2.629565	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF329	79673	broad.mit.edu	37	19	58639933	58639933	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639933T>G	ENST00000598312.1	-	4	1171	c.938A>C	c.(937-939)aAa>aCa	p.K313T	ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329			20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)			TCTATATGGTTTTTCCCCTGT	0.438000																								0							SO:0001583	missense			ENST00000598312.1	1	1	hg19	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654379	0.47467	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.24908	1.83;1.83	4.01	4.01	0.46588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.42108	0.1188	M	0.76170	2.325	0.46927	D	0.999254	D	0.59357	0.985	P	0.59171	0.853	T	0.39014	-0.9634	10	0.87932	D	0	-22.8886	7.6583	0.28388	0.0:0.0986:0.0:0.9014	.	313	Q86UD4	ZN329_HUMAN	T	313	ENSP00000350773:K313T;ENSP00000439527:K313T	ENSP00000350773:K313T	K	-	2	0	ZNF329	63331745	0.294000	0.24380	0.999000	0.59377	0.886000	0.51366	0.900000	0.28431	2.055000	0.61198	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	1	0	1	128	467	0	124	1	8.635490e-01	3	12	0	124	2		0	0	0	0	0	2	1	1	124	461	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF329	79673	broad.mit.edu	37	19	58640736	58640736	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58640736T>C	ENST00000598312.1	-	4	368	c.135A>G	c.(133-135)ggA>ggG	p.G45G	ZNF329_ENST00000358067.4_Silent_p.G45G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329			20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)			GCCTCAAGTGTCCCTCCTGGT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000598312.1	1	1	hg19	CCDS12972.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	1	0	1	113	575	0	118	0	8.800306e-01	1	20	0	118	2		0	0	0	0	0	2	1	1	111	566	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FUT5	2527	broad.mit.edu	37	19	5867405	5867405	+	Missense_Mutation	SNP	C	C	T	rs145858323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5867405C>T	ENST00000588525.1	-	2	419	c.332G>A	c.(331-333)aGt>aAt	p.S111N	FUT5_ENST00000252675.5_Missense_Mutation_p.S111N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)			12					TGGGTACACACTGGAGTCGGC	0.652000																								0							SO:0001583	missense			ENST00000588525.1	0	1	hg19	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	T	3.579	-0.086057	0.07097	.	.	ENSG00000130383	ENST00000252675	T	0.26518	1.73	2.09	-0.735	0.11137	.	0.484276	0.19789	N	0.106037	T	0.15609	0.0376	L	0.39326	1.205	0.09310	N	1	B	0.09022	0.002	B	0.18871	0.023	T	0.15378	-1.0439	10	0.33141	T	0.24	.	3.5461	0.07829	0.1954:0.5024:0.0:0.3022	.	111	Q11128	FUT5_HUMAN	N	111	ENSP00000252675:S111N	ENSP00000252675:S111N	S	-	2	0	FUT5	5818405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.856000	0.04290	-0.159000	0.11021	-1.570000	0.00873	AGT		TCGA-IB-7651-01A-11D-2154-08	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	0	0	0	8	499	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	1	9.883941e-01	8	487	0	70	2								-6.812696	1	0	121410	4	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.200000	0.090000	1.000000	0.190000	0.271953	0.200000	0	1.300000e-01	3.100000e-01
ZNF274	10782	broad.mit.edu	37	19	58718468	58718468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58718468G>A	ENST00000326804.4	+	6	1095	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF274_ENST00000424679.2_Silent_p.L107L|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L180L	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274			21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)			TAGGTGCACTGCCTGTGAAGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000326804.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	17	95	0	30	1	9.958836e-01	7	47	0	30	2		0	0	0	0	0	2	1	9.999750e-01	17	93	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999224	0.990000	1	9.900000e-01	1
ZNF274	10782	broad.mit.edu	37	19	58723727	58723727	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58723727C>A	ENST00000326804.4	+	9	1636	c.1177C>A	c.(1177-1179)Ctt>Att	p.L393I	ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I|ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274			21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)			GGAAAAAGACCTTCCTCAGAA	0.488000																								0							SO:0001583	missense			ENST00000326804.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.18	2.160475	0.38119	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07327	3.34;3.21;3.2	4.71	2.5	0.30297	.	0.803124	0.10301	N	0.691197	T	0.05686	0.0149	.	.	.	0.09310	N	1	B;B;B	0.20780	0.021;0.048;0.028	B;B;B	0.18561	0.013;0.022;0.01	T	0.43475	-0.9389	9	0.24483	T	0.36	-2.4602	7.8969	0.29712	0.1834:0.6397:0.1769:0.0	.	289;362;394	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	I	393;361;288	ENSP00000321209:L393I;ENSP00000321187:L361I;ENSP00000409872:L288I	ENSP00000321209:L393I	L	+	1	0	ZNF274	63415539	0.000000	0.05858	0.005000	0.12908	0.140000	0.21249	0.499000	0.22546	0.675000	0.31264	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	48	200	0	65	1	9.999058e-01	15	46	0	65	2		0	0	0	0	0	2	1	1	47	200	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF544	27300	broad.mit.edu	37	19	58757770	58757770	+	Missense_Mutation	SNP	C	C	A	rs150558952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58757770C>A	ENST00000596652.1	+	4	371	c.137C>A	c.(136-138)aCc>aAc	p.T46N	ZNF544_ENST00000600220.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596929.1_Missense_Mutation_p.T46N|ZNF544_ENST00000333581.5_Missense_Mutation_p.T46N|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000594384.1_Missense_Mutation_p.T46N|ZNF544_ENST00000600044.1_Missense_Mutation_p.T46N|ZNF544_ENST00000269829.4_Missense_Mutation_p.T46N|ZNF544_ENST00000415203.2_Missense_Mutation_p.T46N|ZNF544_ENST00000596825.1_Missense_Mutation_p.T46N|ZNF544_ENST00000599953.1_De_novo_Start_OutOfFrame|ZNF544_ENST00000599227.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000595981.1_Missense_Mutation_p.T46N			Q6NX49	ZN544_HUMAN	zinc finger protein 544			18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)			ACACTGGAGACCTGGGAGCAT	0.552000																								0							SO:0001583	missense			ENST00000596652.1	1	0	hg19	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	0.662	-0.805240	0.02819	.	.	ENSG00000198131	ENST00000269829;ENST00000333581;ENST00000415203	T;T;T	0.01068	5.38;5.38;5.38	2.36	-1.81	0.07882	Krueppel-associated box (4);	.	.	.	.	T	0.00552	0.0018	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.18561	0.022;0.022;0.022	T	0.46289	-0.9202	9	0.02654	T	1	.	4.3261	0.11041	0.3749:0.493:0.0:0.1321	.	46;46;46	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	N	46	ENSP00000269829:T46N;ENSP00000329320:T46N;ENSP00000394341:T46N	ENSP00000269829:T46N	T	+	2	0	ZNF544	63449582	0.206000	0.23470	0.004000	0.12327	0.001000	0.01503	0.209000	0.17435	-0.038000	0.13624	-0.492000	0.04666	ACC		TCGA-IB-7651-01A-11D-2154-08	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	1	0	1	90	460	0	108	0	8.605272e-01	0	20	0	108	2		0	0	0	0	0	2	1	1	84	443	1	106	17								-3.931836	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF544	27300	broad.mit.edu	37	19	58773074	58773074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773074C>A	ENST00000596652.1	+	6	1336	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000269829.4_Missense_Mutation_p.L368I|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544			18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)			CTGTTGTAAGCTCATACACCA	0.438000																								0							SO:0001583	missense			ENST00000596652.1	1	1	hg19	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.364951	0.01235	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.15139	2.45;2.45	2.54	1.4	0.22301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.03253	-0.375	0.19300	N	0.999974	B;B;B	0.30542	0.215;0.017;0.284	B;B;B	0.22880	0.042;0.005;0.018	T	0.40098	-0.9581	9	0.10377	T	0.69	.	5.7326	0.18049	0.0:0.8304:0.0:0.1696	.	340;340;368	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	I	368;340;32	ENSP00000269829:L368I;ENSP00000394341:L340I	ENSP00000269829:L368I	L	+	1	0	ZNF544	63464886	0.000000	0.05858	0.012000	0.15200	0.191000	0.23601	-0.664000	0.05292	0.355000	0.24131	0.491000	0.48974	CTC		TCGA-IB-7651-01A-11D-2154-08	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	1	0	1	57	294	0	82	0	4.479295e-01	1	8	0	82	2		0	0	0	0	0	2	1	1	57	292	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF544	27300	broad.mit.edu	37	19	58773509	58773509	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773509A>G	ENST00000596652.1	+	6	1771	c.1537A>G	c.(1537-1539)Aca>Gca	p.T513A	ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000269829.4_Missense_Mutation_p.T513A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544			18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)			ACATCAGAGGACACACACTGG	0.438000																								0							SO:0001583	missense			ENST00000596652.1	1	1	hg19	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	9.323	1.058531	0.19987	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.11930	2.73;2.73	2.8	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	L	0.42744	1.35	0.09310	N	1	B;B;B	0.25772	0.077;0.134;0.033	B;B;B	0.25140	0.03;0.058;0.015	T	0.32428	-0.9907	9	0.72032	D	0.01	.	3.3834	0.07262	0.6747:0.0:0.1213:0.2041	.	485;485;513	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	A	513;485	ENSP00000269829:T513A;ENSP00000394341:T485A	ENSP00000269829:T513A	T	+	1	0	ZNF544	63465321	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.558000	0.23469	0.295000	0.22570	0.421000	0.28195	ACA		TCGA-IB-7651-01A-11D-2154-08	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	1	0	1	81	326	0	89	0	6.227402e-01	0	10	0	89	2		0	0	0	0	0	2	1	1	79	315	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN22	342945	broad.mit.edu	37	19	58850414	58850414	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58850414C>T	ENST00000329665.4	+	3	1345	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22			16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)			TCAACACCAGCGCATCCACAC	0.632000																								0							SO:0001583	missense			ENST00000329665.4	1	1	hg19	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087477	0.36855	.	.	ENSG00000182318	ENST00000329665	T	0.25749	1.78	4.06	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46946	0.1419	M	0.89904	3.07	0.41325	D	0.987202	D	0.89917	1.0	D	0.73380	0.98	T	0.54984	-0.8211	9	0.87932	D	0	.	3.2415	0.06782	0.5382:0.2312:0.1359:0.0948	.	400	P10073	ZSC22_HUMAN	C	400	ENSP00000332433:R400C	ENSP00000332433:R400C	R	+	1	0	ZSCAN22	63542226	0.000000	0.05858	0.563000	0.28383	0.018000	0.09664	-4.341000	0.00250	-0.151000	0.11176	-0.311000	0.09066	CGC		TCGA-IB-7651-01A-11D-2154-08	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	1	0	1	61	395	0	97	0	2.956749e-01	1	7	0	97	2		0	0	0	0	0	2	1	1	60	384	0	96	2								-3.318850	1	1	121412	1	32	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
A1BG	1	broad.mit.edu	37	19	58864689	58864689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864689G>A	ENST00000263100.3	-	2	100	c.39C>T	c.(37-39)gtC>gtT	p.V13V	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein			15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)			GGCCCCAGGTGACACCTGCGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000263100.3	1	1	hg19	CCDS12976.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	1	0	0	25	84	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.999999e-01	25	83	0	20	2								-20.000000	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
A1BG	1	broad.mit.edu	37	19	58864788	58864788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864788C>T	ENST00000263100.3	-	1	77	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein			15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)			AAGAGAAAGACCACGAGCATG	0.667000																								0							SO:0001583	missense			ENST00000263100.3	0	1	hg19	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	4.265	0.048324	0.08243	.	.	ENSG00000121410	ENST00000263100	T	0.00534	6.74	3.25	-0.496	0.12027	.	2.038350	0.02702	N	0.111919	T	0.00412	0.0013	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.44159	-0.9346	10	0.22706	T	0.39	.	8.6177	0.33842	0.6089:0.3911:0.0:0.0	.	6	P04217	A1BG_HUMAN	I	6	ENSP00000263100:V6I	ENSP00000263100:V6I	V	-	1	0	A1BG	63556600	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.180000	0.16860	0.002000	0.14630	-0.309000	0.09137	GTC		TCGA-IB-7651-01A-11D-2154-08	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	1	0	1	12	81	0	17	0	6.094915e-01	0	15	0	17	2		0	0	0	0	0	2	1	9.992349e-01	11	80	0	17	2								-19.658490	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.870000	1.000000	1.000000	0.992392	0.990000	1	9.900000e-01	1
ZNF497	162968	broad.mit.edu	37	19	58867645	58867645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58867645G>A	ENST00000311044.3	-	3	1545	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497			7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)			TCCGACTTGCGCACGAAGGCC	0.682000																								0							SO:0001583	missense			ENST00000311044.3	0	1	hg19	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778249	0.49786	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.30182	1.54;1.54	1.14	-2.29	0.06805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35740	0.0942	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.21861	-1.0233	9	0.54805	T	0.06	.	1.8909	0.03247	0.1423:0.1924:0.4699:0.1954	.	453	Q6ZNH5	ZN497_HUMAN	C	453	ENSP00000311183:R453C;ENSP00000402815:R453C	ENSP00000311183:R453C	R	-	1	0	ZNF497	63559457	0.000000	0.05858	0.005000	0.12908	0.374000	0.29953	-1.391000	0.02525	-1.225000	0.02578	0.195000	0.17529	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	1	0	1	11	59	0	10	1	7.781069e-02	2	1	0	10	2		0	0	0	0	0	2	1	9.987928e-01	11	59	0	9	2								-19.737100	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.997158	0.990000	1	9.900000e-01	1
ZNF497	162968	broad.mit.edu	37	19	58868179	58868179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58868179C>T	ENST00000311044.3	-	3	1011	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.A275T|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497			7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)			TCGGGACAGGCGTGTGGCCGT	0.736000																								0							SO:0001583	missense			ENST00000311044.3	0	1	hg19	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753174	0.31046	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.16073	2.37;2.37	1.23	-0.0606	0.13788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.03084	-0.415	0.09310	N	1	P	0.36222	0.544	B	0.23574	0.047	T	0.28522	-1.0041	9	0.54805	T	0.06	.	2.3078	0.04178	0.0:0.328:0.3019:0.3701	.	275	Q6ZNH5	ZN497_HUMAN	T	275	ENSP00000311183:A275T;ENSP00000402815:A275T	ENSP00000311183:A275T	A	-	1	0	ZNF497	63559991	0.000000	0.05858	0.001000	0.08648	0.454000	0.32378	-2.470000	0.00991	0.026000	0.15269	0.205000	0.17691	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	0	0	0	4	48	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	8.273008e-01	2	39	0	7	2								-9.397732	1	0	118838	1	17	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.350000	1.000000	1.000000	0.860432	0.990000	1	6.200000e-01	1
ZNF132	7691	broad.mit.edu	37	19	58945235	58945235	+	Missense_Mutation	SNP	G	G	A	rs142712450		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945235G>A	ENST00000254166.3	-	3	1976	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132			19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			CTGGAGCTGCGGCTGAAGGAT	0.498000																								0							SO:0001583	missense			ENST00000254166.3	1	1	hg19	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745748	0.30955	2.27E-4	0.0	ENSG00000131849	ENST00000254166	T	0.07567	3.18	3.57	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	L	0.31804	0.96	0.09310	N	1	B	0.24721	0.11	B	0.16289	0.015	T	0.39820	-0.9595	9	0.33141	T	0.24	.	6.1092	0.20092	0.3513:0.0:0.6487:0.0	.	526	P52740	ZN132_HUMAN	C	526	ENSP00000254166:R526C	ENSP00000254166:R526C	R	-	1	0	ZNF132	63637047	0.000000	0.05858	0.941000	0.38009	0.994000	0.84299	-2.749000	0.00793	0.146000	0.19002	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	1	0	1	62	245	0	60	0	5.060461e-01	0	8	0	60	2		0	0	0	0	0	2	1	1	61	239	0	59	2								-3.194813	1	1	121412	2	36	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF132	7691	broad.mit.edu	37	19	58945596	58945596	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945596G>A	ENST00000254166.3	-	3	1615	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132			19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			CACATTGACTGCACTCATAAG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000254166.3	1	1	hg19	CCDS12980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	1	0	1	42	386	0	100	0	2.643305e-01	0	10	0	100	2		0	0	0	0	0	2	1	1	40	371	0	97	2								-13.951880	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.870000	1.000000	1.000000	0.990633	0.990000	1	9.900000e-01	1
ZNF324	25799	broad.mit.edu	37	19	58983274	58983274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58983274G>A	ENST00000536459.2	+	4	2124	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q			O75467	Z324A_HUMAN	zinc finger protein 324			16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)			CTCAGCCACCGGCGCATTCAC	0.687000																								0							SO:0001583	missense			ENST00000536459.2	1	1	hg19	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200357	0.09652	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.17691	2.26;2.26;2.26	3.84	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.428368	0.17271	N	0.180378	T	0.05044	0.0135	N	0.01015	-1.05	0.29344	N	0.865829	P	0.47034	0.889	P	0.45856	0.495	T	0.18241	-1.0343	10	0.02654	T	1	.	8.0107	0.30351	0.2079:0.0:0.7921:0.0	.	472	O75467	Z324A_HUMAN	Q	472;472;462;249	ENSP00000196482:R472Q;ENSP00000444812:R472Q;ENSP00000439588:R249Q	ENSP00000196482:R472Q	R	+	2	0	ZNF324	63675086	0.004000	0.15560	0.994000	0.49952	0.413000	0.31143	-0.263000	0.08670	0.597000	0.29811	-0.497000	0.04613	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	1	0	1	82	301	0	54	1	2.952778e-01	2	3	0	54	2		0	0	0	0	0	2	1	1	81	299	0	54	2								-3.856916	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC27A5	10998	broad.mit.edu	37	19	59011712	59011712	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59011712C>A	ENST00000263093.2	-	6	1571	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5			19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			ATACCTAGCCCTACAGGGATG	0.612000																								0							SO:0001583	missense			ENST00000263093.2	1	1	hg19	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160946	0.57368	.	.	ENSG00000083807	ENST00000263093	T	0.58210	0.35	5.33	1.55	0.23275	AMP-dependent synthetase/ligase (1);	1.014630	0.07860	N	0.966174	T	0.68247	0.2980	M	0.79926	2.475	0.09310	N	0.999998	D	0.63880	0.993	D	0.66602	0.945	T	0.50792	-0.8786	10	0.72032	D	0.01	-5.2809	4.028	0.09697	0.0:0.5624:0.1893:0.2483	.	488	Q9Y2P5	S27A5_HUMAN	W	488	ENSP00000263093:G488W	ENSP00000263093:G488W	G	-	1	0	SLC27A5	63703524	0.000000	0.05858	0.684000	0.30055	0.879000	0.50718	0.011000	0.13264	0.593000	0.29745	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	1	0	0	45	239	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	45	233	0	75	2								-3.036120	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLC27A5	10998	broad.mit.edu	37	19	59012709	59012709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59012709C>T	ENST00000263093.2	-	4	1235	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5			19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			ATCACTGTCACGCCATGCTGC	0.557000																								0							SO:0001583	missense			ENST00000263093.2	1	1	hg19	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899941	0.72754	.	.	ENSG00000083807	ENST00000263093	T	0.51071	0.72	4.9	4.9	0.64082	AMP-dependent synthetase/ligase (1);	0.073155	0.53938	D	0.000046	T	0.73353	0.3576	M	0.90759	3.145	0.38129	D	0.938098	D	0.89917	1.0	D	0.87578	0.998	T	0.81406	-0.0947	10	0.87932	D	0	-29.8733	13.9553	0.64144	0.0:1.0:0.0:0.0	.	376	Q9Y2P5	S27A5_HUMAN	M	376	ENSP00000263093:V376M	ENSP00000263093:V376M	V	-	1	0	SLC27A5	63704521	0.992000	0.36948	0.943000	0.38184	0.778000	0.44026	3.066000	0.50002	2.443000	0.82685	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	1	0	1	126	511	0	119	0	3.974961e-02	0	2	0	119	2		0	0	0	0	0	2	1	1	120	506	0	118	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB45	84878	broad.mit.edu	37	19	59027844	59027844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027844C>T	ENST00000594051.1	-	2	1677	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	ZBTB45_ENST00000600990.1_Silent_p.E399E|ZBTB45_ENST00000354590.3_Silent_p.E399E			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45			11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)			ACGTAGGTGGCTCAGCACCTG	0.657000													NSCLC(164;1383 2017 5233 27540 46677)											0							SO:0001819	synonymous_variant			ENST00000594051.1	0	1	hg19	CCDS12984.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	0	0	0	6	210	0	45	1	5.779972e-01	2	62	0	45	2		0	0	0	0	0	2	1	9.619092e-01	5	204	0	45	2								-7.845434	1	0	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.380000	0.150000	1.000000	0.330000	0.458033	0.380000	0	2.400000e-01	6.700000e-01
ZBTB45	84878	broad.mit.edu	37	19	59027866	59027866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027866G>A	ENST00000594051.1	-	2	1655	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45			11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)			GGTGCGAGCAGGGGTGCCTGA	0.642000													NSCLC(164;1383 2017 5233 27540 46677)											0							SO:0001583	missense			ENST00000594051.1	1	1	hg19	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.615762	0.28801	.	.	ENSG00000119574	ENST00000354590	T	0.11712	2.75	3.41	2.31	0.28768	.	0.269932	0.29760	N	0.011269	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30060	-0.9991	10	0.54805	T	0.06	.	10.4857	0.44719	0.0:0.2004:0.7996:0.0	.	392	Q96K62	ZBT45_HUMAN	L	392	ENSP00000346603:P392L	ENSP00000346603:P392L	P	-	2	0	ZBTB45	63719678	0.827000	0.29292	0.005000	0.12908	0.256000	0.26092	4.923000	0.63412	0.953000	0.37825	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	1	0	0	30	147	0	43	1	9.996886e-01	22	43	0	43	2		0	0	0	0	0	2	1	1	29	143	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ZBTB45	84878	broad.mit.edu	37	19	59028114	59028114	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028114C>A	ENST00000594051.1	-	2	1407	c.927G>T	c.(925-927)caG>caT	p.Q309H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45			11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)			TGCAGTCGGGCTGGACAGGGG	0.637000													NSCLC(164;1383 2017 5233 27540 46677)											0							SO:0001583	missense			ENST00000594051.1	1	1	hg19	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	10.90	1.481198	0.26598	.	.	ENSG00000119574	ENST00000354590	T	0.09630	2.96	4.12	-4.62	0.03370	.	0.627301	0.14119	N	0.340177	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.28232	0.087	T	0.30357	-0.9981	10	0.56958	D	0.05	.	2.0473	0.03563	0.1271:0.3098:0.1254:0.4378	.	309	Q96K62	ZBT45_HUMAN	H	309	ENSP00000346603:Q309H	ENSP00000346603:Q309H	Q	-	3	2	ZBTB45	63719926	0.000000	0.05858	0.036000	0.18154	0.541000	0.35023	-1.308000	0.02730	-0.845000	0.04179	0.467000	0.42956	CAG		TCGA-IB-7651-01A-11D-2154-08	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	1	0	1	59	247	0	48	1	9.997357e-01	17	37	0	48	2		0	0	0	0	0	2	1	1	59	241	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB45	84878	broad.mit.edu	37	19	59028774	59028774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028774G>A	ENST00000594051.1	-	2	747	c.267C>T	c.(265-267)agC>agT	p.S89S	ZBTB45_ENST00000600990.1_Silent_p.S89S|ZBTB45_ENST00000354590.3_Silent_p.S89S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45			11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)			CGAGCGAACCGCTGTACAGGA	0.602000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NSCLC(164;1383 2017 5233 27540 46677)											0							SO:0001819	synonymous_variant			ENST00000594051.1	1	1	hg19	CCDS12984.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	1	0	1	103	344	0	72	1	9.999918e-01	11	48	0	72	2		0	0	0	0	0	2	1	1	102	339	0	72	2								-4.600737	1	1	121392	1	33	1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHMP2A	27243	broad.mit.edu	37	19	59063087	59063087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59063087C>T	ENST00000600118.1	-	5	1023	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T|CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A			7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			GAGGCTGCGGCCTCTGCTTTT	0.612000																								0							SO:0001583	missense			ENST00000600118.1	1	1	hg19	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859324	0.51376	.	.	ENSG00000130724	ENST00000312547	T	0.78364	-1.17	4.83	3.73	0.42828	.	0.191125	0.46145	D	0.000301	T	0.56187	0.1968	N	0.08118	0	0.44439	D	0.99736	B	0.15141	0.012	B	0.11329	0.006	T	0.51896	-0.8647	10	0.22706	T	0.39	.	11.141	0.48402	0.0:0.7156:0.2844:0.0	.	200	O43633	CHM2A_HUMAN	T	200	ENSP00000310440:A200T	ENSP00000310440:A200T	A	-	1	0	CHMP2A	63754899	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	2.730000	0.47335	2.686000	0.91538	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	1	0	0	24	500	0	117	1	1	52	729	0	117	2		0	0	0	0	0	2	1	9.999996e-01	24	495	0	113	2								-4.981593	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.570000	0.360000	1.000000	0.550000	0.620353	0.570000	0	4.500000e-01	7.800000e-01
CHMP2A	27243	broad.mit.edu	37	19	59065517	59065517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59065517G>A	ENST00000600118.1	-	1	488	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CHMP2A_ENST00000312547.2_Silent_p.A21A|CHMP2A_ENST00000601220.1_Silent_p.A21A			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A			7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			CACGGTTCAGGGCCCTCTGGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000600118.1	1	1	hg19	CCDS12986.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	1	0	1	136	711	0	163	1	1	279	644	0	163	2		0	0	0	0	0	2	1	1	135	698	0	160	2								-3.222671	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MZF1	7593	broad.mit.edu	37	19	59073457	59073457	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59073457G>A	ENST00000215057.2	-	6	2747	c.2187C>T	c.(2185-2187)cgC>cgT	p.R729R	MZF1_ENST00000599369.1_Silent_p.R729R|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1			11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			CGCTGTGGACGCGCTGGTGCT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000215057.2	0	1	hg19	CCDS12988.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	0	0	0	13	27	0	12	1	9.999360e-01	17	29	0	12	2		0	0	0	0	0	2	1	9.998191e-01	13	27	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.033829	0	0.170000	2.060000	1.818227e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
MZF1	7593	broad.mit.edu	37	19	59082669	59082669	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59082669C>T	ENST00000215057.2	-	2	648	c.88G>A	c.(88-90)Gag>Aag	p.E30K	MZF1_ENST00000599369.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K|MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1			11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)			GCCTCACCCTCCTCCTCAGAG	0.652000																								0							SO:0001583	missense			ENST00000215057.2	1	1	hg19	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	7.538	0.660115	0.14645	.	.	ENSG00000099326	ENST00000215057	T	0.07327	3.2	3.67	1.45	0.22620	.	0.426133	0.17364	N	0.176905	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.09377	0.004;0.001	T	0.45585	-0.9251	9	.	.	.	-7.2513	6.1722	0.20424	0.0:0.7625:0.0:0.2375	.	30;30	Q7Z729;P28698	.;MZF1_HUMAN	K	30	ENSP00000215057:E30K	.	E	-	1	0	MZF1	63774481	0.000000	0.05858	0.751000	0.31187	0.103000	0.19146	-0.083000	0.11286	0.514000	0.28300	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	1	0	1	35	136	0	37	1	9.973493e-01	16	23	0	37	2		0	0	0	0	0	2	1	1	34	131	0	35	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
RANBP3	8498	broad.mit.edu	37	19	5928016	5928016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5928016G>A	ENST00000340578.6	-	9	833	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V|RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V|RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3			18					AAATACAAAGGCTTGCTGTGT	0.468000																								0							SO:0001583	missense			ENST00000340578.6	1	1	hg19	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995853	0.54147	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.32988	1.43;1.43;2.19;1.44	5.4	4.36	0.52297	.	0.243763	0.42294	D	0.000729	T	0.36991	0.0987	L	0.57536	1.79	0.40303	D	0.978638	P;P;P;P;P;P;P	0.51653	0.897;0.911;0.835;0.835;0.897;0.947;0.911	P;B;B;B;P;P;B	0.49853	0.624;0.363;0.363;0.363;0.566;0.566;0.44	T	0.10941	-1.0608	10	0.39692	T	0.17	-13.6051	11.1458	0.48430	0.089:0.0:0.911:0.0	.	131;254;131;186;191;254;259	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	V	259;254;191;190;131	ENSP00000341483:A259V;ENSP00000404837:A254V;ENSP00000034275:A191V;ENSP00000445071:A131V	ENSP00000034275:A191V	A	-	2	0	RANBP3	5879016	0.890000	0.30428	0.138000	0.22173	0.044000	0.14063	3.779000	0.55379	2.536000	0.85505	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	1	0	1	122	473	0	96	1	1	52	171	0	96	2		0	0	0	0	0	2	1	1	120	458	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HCN2	610	broad.mit.edu	37	19	603718	603718	+	Silent	SNP	C	C	T	rs143343881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:603718C>T	ENST00000251287.2	+	2	860	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2			9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			GCATTGTGATCGAGGACAACA	0.557000													Melanoma(145;1175 2427 8056 36306)											0							SO:0001819	synonymous_variant			ENST00000251287.2	1	1	hg19	CCDS12035.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	1	0	1	56	348	0	83	0	7.055317e-01	1	16	0	83	2		0	0	0	0	0	2	1	1	56	339	0	84	2								-3.319130	1	1	121332	11	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
RFX2	5990	broad.mit.edu	37	19	6042117	6042117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6042117G>A	ENST00000303657.5	-	4	347	c.198C>T	c.(196-198)caC>caT	p.H66H	RFX2_ENST00000592546.1_Silent_p.H66H|RFX2_ENST00000359161.3_Silent_p.H66H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)			21					CAGGATACACGTGCTGCACCG	0.597000													Colon(38;171 817 19800 47433 48051)											0							SO:0001819	synonymous_variant			ENST00000303657.5	1	1	hg19	CCDS12157.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	1	0	0	32	451	0	70	0	5.880784e-02	0	6	0	70	2		0	0	0	0	0	2	1	1	32	446	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.800000	0.550000	1.000000	1.000000	0.810861	0.800000	0	6.600000e-01	9.900000e-01
ACSBG2	81616	broad.mit.edu	37	19	6156513	6156513	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6156513T>C	ENST00000586696.1	+	5	734	c.458T>C	c.(457-459)gTg>gCg	p.V153A	ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000588304.1_Missense_Mutation_p.V103A|ACSBG2_ENST00000588485.1_Intron			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2			39					CATGCCAAAGTGAACATCTTG	0.468000																								0							SO:0001583	missense			ENST00000586696.1	1	1	hg19	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	T	8.116	0.779798	0.16120	.	.	ENSG00000130377	ENST00000252669	T	0.36878	1.23	5.9	4.82	0.62117	AMP-dependent synthetase/ligase (1);	0.000000	0.35677	N	0.003056	T	0.10035	0.0246	N	0.01640	-0.785	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.11329	0.004;0.006	T	0.29488	-1.0010	10	0.02654	T	1	-42.6966	4.5681	0.12196	0.0:0.2211:0.0:0.7789	.	153;153	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	A	153	ENSP00000252669:V153A	ENSP00000252669:V153A	V	+	2	0	ACSBG2	6107513	1.000000	0.71417	0.892000	0.35008	0.963000	0.63663	5.382000	0.66213	2.251000	0.74343	0.528000	0.53228	GTG		TCGA-IB-7651-01A-11D-2154-08	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	1	0	1	137	518	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1	136	509	0	149	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSBG2	81616	broad.mit.edu	37	19	6185467	6185467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6185467G>A	ENST00000586696.1	+	11	1619	c.1343G>A	c.(1342-1344)gGg>gAg	p.G448E	ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000588304.1_Missense_Mutation_p.G398E|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2			39					ATCTTGACTGGGTGTAAGAAT	0.527000																								0							SO:0001583	missense			ENST00000586696.1	1	1	hg19	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517510	0.64634	.	.	ENSG00000130377	ENST00000252669	T	0.15487	2.42	4.76	4.76	0.60689	AMP-dependent synthetase/ligase (1);	0.000000	0.44483	D	0.000445	T	0.48314	0.1493	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.58132	-0.7690	10	0.72032	D	0.01	-22.657	16.3481	0.83151	0.0:0.0:1.0:0.0	.	448;448	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	E	448	ENSP00000252669:G448E	ENSP00000252669:G448E	G	+	2	0	ACSBG2	6136467	1.000000	0.71417	0.555000	0.28281	0.355000	0.29361	6.292000	0.72725	2.208000	0.71279	0.555000	0.69702	GGG		TCGA-IB-7651-01A-11D-2154-08	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	1	0	1	220	1087	0	285		0	0	0	0	285	2		0	0	0	0	0	2	1	1	217	1061	0	284	2								-3.222710	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT1	4298	broad.mit.edu	37	19	6213122	6213122	+	Silent	SNP	G	G	A	rs143086360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213122G>A	ENST00000252674.7	-	12	1774	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	MLLT1_ENST00000585588.1_5'Flank|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1			17					AGAAGAGGTCGAAGTCGAAGG	0.637000			T	MLL	AL										Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0							SO:0001819	synonymous_variant			ENST00000252674.7	1	1	hg19	CCDS12160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	1	105	570	0	121	1	9.999939e-01	19	74	0	121	2		0	0	0	0	0	2	1	1	104	552	0	120	2								-20.000000	1	1	121412	9	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT1	4298	broad.mit.edu	37	19	6213356	6213356	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213356G>A	ENST00000252674.7	-	11	1706	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	MLLT1_ENST00000585588.1_5'UTR|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1			17					ACCTGCTGCAGCACGTTGCGC	0.721000			T	MLL	AL										Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0							SO:0001819	synonymous_variant			ENST00000252674.7	1	1	hg19	CCDS12160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	0	170	755	0	132	1	9.999999e-01	30	71	0	132	2		0	0	0	0	0	2	1	1	167	746	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT1	4298	broad.mit.edu	37	19	6213743	6213743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213743G>A	ENST00000252674.7	-	10	1636	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y	MLLT1_ENST00000585588.1_5'UTR|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1			17					CCACCTTGTCGTAGGTGCCCT	0.667000			T	MLL	AL										Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0							SO:0001819	synonymous_variant			ENST00000252674.7	1	1	hg19	CCDS12160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	0	90	451	0	98	1	9.999972e-01	22	71	0	98	2		0	0	0	0	0	2	1	1	89	443	0	97	2								-20.000000	1	1	121412	31	44	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT1	4298	broad.mit.edu	37	19	6222534	6222534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6222534G>A	ENST00000252674.7	-	6	871	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1			17					TGGGCAGCCGGCCCTCGCCCA	0.642000			T	MLL	AL										Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0							SO:0001819	synonymous_variant			ENST00000252674.7	1	1	hg19	CCDS12160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	0	42	142	0	31	1	9.999999e-01	20	71	0	31	2		0	0	0	0	0	2	1	1	42	141	0	31	2								-4.125684	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLRMT	5442	broad.mit.edu	37	19	623477	623477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:623477G>A	ENST00000588649.2	-	6	1351	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)			20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			TCCTTGCTTGGCAACGTGGGC	0.682000																								0							SO:0001583	missense			ENST00000588649.2	1	1	hg19	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631471	0.29068	.	.	ENSG00000099821	ENST00000215591	T	0.40476	1.03	4.36	1.54	0.23209	.	0.496370	0.20887	N	0.083892	T	0.24928	0.0605	L	0.40543	1.245	0.09310	N	1	B	0.29253	0.239	B	0.24006	0.05	T	0.24476	-1.0159	10	0.07644	T	0.81	-11.3198	7.0383	0.25004	0.0889:0.0:0.6622:0.2488	.	423	O00411	RPOM_HUMAN	S	423	ENSP00000215591:P423S	ENSP00000215591:P423S	P	-	1	0	POLRMT	574477	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.608000	0.36847	0.132000	0.18615	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	1	0	1	75	316	0	66	1	1	34	93	0	66	2		0	0	0	0	0	2	1	1	74	309	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT1	4298	broad.mit.edu	37	19	6270647	6270647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6270647G>A	ENST00000252674.7	-	2	299	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1			17					TCCACGAAGTGCTGGATGTCA	0.637000			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			Dom	yes		19	19p13.3	4298	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)		L	0							SO:0001583	missense			ENST00000252674.7	1	1	hg19	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889490	0.91889	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	N	0.05510	-0.035	0.80722	D	1	B	0.22541	0.071	B	0.37304	0.246	T	0.49835	-0.8897	9	0.49607	T	0.09	-34.6303	16.6911	0.85322	0.0:0.0:1.0:0.0	.	46	Q03111	ENL_HUMAN	Y	46	.	ENSP00000252674:H46Y	H	-	1	0	MLLT1	6221647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.537000	0.85549	0.561000	0.74099	CAC		TCGA-IB-7651-01A-11D-2154-08	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	1	0	1	45	235	0	37	1	9.999991e-01	20	93	0	37	2		0	0	0	0	0	2	1	1	45	231	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
POLRMT	5442	broad.mit.edu	37	19	629762	629762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629762C>T	ENST00000588649.2	-	3	684	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)			20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			GGCTCAGCTTCCCAGGGGCCT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000588649.2	1	1	hg19	CCDS12036.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	1	0	0	24	94	0	20	1	9.857114e-01	12	18	0	20	2		0	0	0	0	0	2	1	9.999998e-01	22	91	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
POLRMT	5442	broad.mit.edu	37	19	629970	629970	+	Missense_Mutation	SNP	C	C	T	rs113148837	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629970C>T	ENST00000588649.2	-	3	476	c.392G>A	c.(391-393)cGg>cAg	p.R131Q		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)			20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CTGCTGGGTCCGCTTATCCTT	0.637000																								0							SO:0001583	missense			ENST00000588649.2	0	1	hg19	CCDS12036.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.874	0.728691	0.15507	0.002951	0.0	ENSG00000099821	ENST00000215591	T	0.42900	0.96	4.16	-8.32	0.00996	.	1.256700	0.05662	N	0.587128	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12682	-1.0538	10	0.30854	T	0.27	-3.4379	2.1405	0.03774	0.1904:0.2481:0.0948:0.4667	.	131	O00411	RPOM_HUMAN	Q	131	ENSP00000215591:R131Q	ENSP00000215591:R131Q	R	-	2	0	POLRMT	580970	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.052000	0.01401	-2.047000	0.00908	-0.459000	0.05422	CGG		TCGA-IB-7651-01A-11D-2154-08	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	0	0	0	6	317	0	59	1	6.218506e-01	2	103	0	59	2		0	0	0	0	0	2	1	9.598895e-01	5	303	0	67	2								-3.132045	1	0	121408	38	47	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.240000	0.090000	1.000000	0.210000	0.312403	0.240000	0	1.500000e-01	3.900000e-01
ACER1	125981	broad.mit.edu	37	19	6309846	6309846	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6309846C>A	ENST00000301452.4	-	4	428		c.e4-1			NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1			15					GAACTGGGACCTGGGGAGGAA	0.612000																								0							SO:0001630	splice_region_variant			ENST00000301452.4	1	1	hg19	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641999	0.47153	.	.	ENSG00000167769	ENST00000301452	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2007	0.65703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACER1	6260846	1.000000	0.71417	0.152000	0.22495	0.017000	0.09413	6.473000	0.73572	1.947000	0.56498	0.542000	0.68232	.		TCGA-IB-7651-01A-11D-2154-08	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	1	0	1	46	192	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	42	187	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTF2F1	2962	broad.mit.edu	37	19	6389591	6389591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6389591C>T	ENST00000394456.5	-	4	654	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa			16					GCGCCCGATTCGGGCATCTCC	0.612000																								0							SO:0001583	missense			ENST00000394456.5	1	1	hg19	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030796	0.19590	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.46451	0.87;0.87	5.43	4.39	0.52855	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.053321	0.64402	D	0.000001	T	0.40247	0.1109	L	0.39514	1.22	0.58432	D	0.999998	B;B	0.34329	0.121;0.449	B;B	0.41571	0.051;0.36	T	0.12811	-1.0533	10	0.19590	T	0.45	-44.0396	15.1046	0.72310	0.0:0.8573:0.1427:0.0	.	36;64	E7EUG6;P35269	.;T2FA_HUMAN	K	64;36;124;37;64	ENSP00000377969:E64K;ENSP00000392107:E36K	ENSP00000377969:E64K	E	-	1	0	GTF2F1	6340591	1.000000	0.71417	0.826000	0.32828	0.013000	0.08279	5.432000	0.66514	1.283000	0.44513	-0.176000	0.13171	GAA		TCGA-IB-7651-01A-11D-2154-08	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	0	0	1	111	1048	0	221	1	1	33	275	0	221	2		0	0	0	0	0	2	1	1	111	1034	0	219	2								-20.000000	1	1	121412	1	42	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.940000	1.000000	1.000000	0.996807	0.990000	1	9.900000e-01	1
DENND1C	79958	broad.mit.edu	37	19	6467822	6467822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6467822G>A	ENST00000381480.2	-	23	2211	c.2099C>T	c.(2098-2100)aCt>aTt	p.T700I	DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C			10					GAGCCAGGGAGTGGGGTTTTC	0.582000																								0							SO:0001583	missense			ENST00000381480.2	1	1	hg19	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313910	0.23908	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.09911	3.1;2.93	4.47	-1.97	0.07503	.	2.337440	0.02089	N	0.053003	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31861	-0.9928	10	0.21014	T	0.42	0.0155	1.2983	0.02074	0.1571:0.2981:0.3339:0.2108	.	700	Q8IV53	DEN1C_HUMAN	I	700;656	ENSP00000370889:T700I;ENSP00000437805:T656I	ENSP00000370889:T700I	T	-	2	0	DENND1C	6418822	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.095000	0.11077	0.112000	0.17975	0.298000	0.19748	ACT		TCGA-IB-7651-01A-11D-2154-08	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	1	0	1	32	77	0	14	1	1	32	93	0	14	2		0	0	0	0	0	2	1	1	31	73	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND1C	79958	broad.mit.edu	37	19	6479048	6479048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6479048C>T	ENST00000381480.2	-	5	308	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	p.V66L(1)|p.V92L(1)		10					AAATGCTGCACGGCGGGGCTG	0.632000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000381480.2	1	1	hg19	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698972	0.68501	2.59E-4	1.21E-4	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.42513	0.97;0.97	5.24	5.24	0.73138	uDENN (3);	0.704654	0.13525	N	0.381405	T	0.66713	0.2817	M	0.80422	2.495	0.21697	N	0.999583	D	0.76494	0.999	D	0.67725	0.953	T	0.60244	-0.7301	10	0.52906	T	0.07	-14.6092	16.2903	0.82747	0.0:1.0:0.0:0.0	.	66	Q8IV53	DEN1C_HUMAN	M	66;22	ENSP00000370889:V66M;ENSP00000437805:V22M	ENSP00000370889:V66M	V	-	1	0	DENND1C	6430048	0.894000	0.30519	0.025000	0.17156	0.826000	0.46750	5.660000	0.68018	2.459000	0.83118	0.313000	0.20887	GTG		TCGA-IB-7651-01A-11D-2154-08	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	1	0	1	101	451	0	91	0	9.284212e-01	0	22	0	91	2		0	0	0	0	0	2	1	1	98	437	0	90	2								-20.000000	1	1	120872	3	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF126	55658	broad.mit.edu	37	19	651781	651781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:651781G>A	ENST00000292363.5	-	4	428	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_194460.2	NP_919442.1			ring finger protein 126			1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			TGGGGATCTCGAAGCTGTCAT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000292363.5	1	1	hg19	CCDS12039.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	1	0	0	43	206	0	42	1	1	37	99	0	42	2		0	0	0	0	0	2	1	1	42	205	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF126	55658	broad.mit.edu	37	19	652265	652265	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:652265C>A	ENST00000292363.5	-	3	321	c.166G>T	c.(166-168)Gct>Tct	p.A56S		NM_194460.2	NP_919442.1			ring finger protein 126			1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			TCTGTGGGAGCTGTGGAGGGG	0.687000																								0							SO:0001583	missense			ENST00000292363.5	0	1	hg19	CCDS12039.1	.	.	.	.	.	.	.	.	.	.	c	5.854	0.341819	0.11069	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.13196	2.61	4.43	4.43	0.53597	.	0.080536	0.49916	D	0.000122	T	0.05593	0.0147	N	0.04090	-0.28	0.31136	N	0.70716	B	0.22146	0.065	B	0.22753	0.041	T	0.22173	-1.0224	10	0.08599	T	0.76	.	10.094	0.42464	0.2162:0.7838:0.0:0.0	.	56	Q9BV68-2	.	S	56	ENSP00000292363:A56S	ENSP00000292363:A56S	A	-	1	0	RNF126	603265	0.995000	0.38212	0.992000	0.48379	0.868000	0.49771	3.288000	0.51739	2.008000	0.58898	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	1	0	0	12	24	0	9	1	1	48	106	0	9	2		0	0	0	0	0	2	1	9.996366e-01	12	24	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
TNFSF9	8744	broad.mit.edu	37	19	6534897	6534897	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6534897G>A	ENST00000245817.3	+	3	623	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9			5					CTCGGAACTCGGCCTTCGGTT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000245817.3	1	1	hg19	CCDS12169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	1	0	1	36	86	0	24	1	9.999976e-01	15	40	0	24	2		0	0	0	0	0	2	1	1	36	84	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFSF14	8740	broad.mit.edu	37	19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6665011C>T	ENST00000599359.1	-	5	1030	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.V181I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14			18					AGCACACGGACGACCACCTTC	0.622000																								0							SO:0001583	missense			ENST00000599359.1	1	1	hg19	CCDS12171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.373441	0.42105	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.37411	1.2	4.46	3.42	0.39159	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.083570	0.47093	D	0.000244	T	0.31327	0.0793	L	0.46741	1.465	0.32364	N	0.556802	P;P	0.50943	0.94;0.861	B;B	0.42361	0.385;0.095	T	0.49143	-0.8970	10	0.51188	T	0.08	-2.5432	10.7358	0.46124	0.0:0.9045:0.0:0.0955	.	217;181	O43557;O43557-2	TNF14_HUMAN;.	I	217;181	ENSP00000326940:V181I	ENSP00000245912:V217I	V	-	1	0	TNFSF14	6616011	0.991000	0.36638	0.620000	0.29132	0.457000	0.32468	3.191000	0.50981	2.038000	0.60285	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1	1	0	1	101	512	0	116	0	3.279255e-01	1	6	0	116	2		0	0	0	0	0	2	1	1	99	497	0	116	2								-20.000000	1	1	121412	4	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3	718	broad.mit.edu	37	19	6684416	6684416	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684416G>T	ENST00000245907.6	-	33	4247	c.4155C>A	c.(4153-4155)atC>atA	p.I1385I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3			72				Intravenous Immunoglobulin(DB00028)	AGATCTCAAGGATCATAGTGT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000245907.6	1	1	hg19	CCDS32883.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1	101	514	0	117	1	1	611	2903	0	117	2		0	0	0	0	0	2	1	1	100	504	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3	718	broad.mit.edu	37	19	6684598	6684598	+	Missense_Mutation	SNP	C	C	A	rs74722736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684598C>A	ENST00000245907.6	-	32	4185	c.4093G>T	c.(4093-4095)Gtc>Ttc	p.V1365F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3			72				Intravenous Immunoglobulin(DB00028)	TTTATGGTGACCTTGAGGTCG	0.478000																								0							SO:0001583	missense			ENST00000245907.6	1	1	hg19	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669874	0.67814	.	.	ENSG00000125730	ENST00000245907	T	0.35236	1.32	5.41	4.37	0.52481	Alpha-macroglobulin, receptor-binding (2);	0.126503	0.52532	D	0.000067	T	0.65144	0.2663	M	0.91038	3.17	0.18873	N	0.999985	D	0.89917	1.0	D	0.72338	0.977	T	0.62338	-0.6875	10	0.56958	D	0.05	.	12.0112	0.53289	0.0:0.9154:0.0:0.0846	.	1365	P01024	CO3_HUMAN	F	1365	ENSP00000245907:V1365F	ENSP00000245907:V1365F	V	-	1	0	C3	6635598	0.348000	0.24861	0.020000	0.16555	0.214000	0.24535	2.073000	0.41519	1.413000	0.46997	0.580000	0.79431	GTC		TCGA-IB-7651-01A-11D-2154-08	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1	115	517	0	96	1	1	552	2718	0	96	2		0	0	0	0	0	2	1	1	114	508	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3	718	broad.mit.edu	37	19	6686219	6686219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6686219C>T	ENST00000245907.6	-	29	3818	c.3726G>A	c.(3724-3726)caG>caA	p.Q1242Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3			72				Intravenous Immunoglobulin(DB00028)	AGTCTTTTAGCTGCAGTAGGG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000245907.6	1	1	hg19	CCDS32883.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	0	0	0	223	892	0	255	1	1	279	1649	0	255	2		0	0	0	0	0	2	1	1	219	882	0	254	2								-20.000000	1	1	121412	1	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3	718	broad.mit.edu	37	19	6694466	6694466	+	Missense_Mutation	SNP	C	C	T	rs146026441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694466C>T	ENST00000245907.6	-	24	3222	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3			72				Intravenous Immunoglobulin(DB00028)	TCCAAGGCCCCCTGCCGCTTC	0.612000																								0							SO:0001583	missense			ENST00000245907.6	1	1	hg19	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542636	0.13250	.	.	ENSG00000125730	ENST00000245907	T	0.34859	1.34	5.76	1.07	0.20283	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.658785	0.16479	N	0.212637	T	0.12008	0.0292	N	0.02225	-0.63	0.09310	N	1	B	0.32968	0.392	B	0.27887	0.084	T	0.16276	-1.0408	10	0.38643	T	0.18	.	5.8472	0.18673	0.0:0.5259:0.2595:0.2146	.	1044	P01024	CO3_HUMAN	R	1044	ENSP00000245907:G1044R	ENSP00000245907:G1044R	G	-	1	0	C3	6645466	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.841000	0.27613	0.062000	0.16340	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1	57	314	0	70	1	1	333	1648	0	70	2		0	0	0	0	0	2	1	1	54	311	0	69	2								-2.847062	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3	718	broad.mit.edu	37	19	6694476	6694476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694476C>A	ENST00000245907.6	-	24	3212	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3			72				Intravenous Immunoglobulin(DB00028)	CCTGCCGCTTCTCTAGGCCGA	0.622000																								0							SO:0001583	missense			ENST00000245907.6	1	1	hg19	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951487	0.02285	.	.	ENSG00000125730	ENST00000245907	T	0.38401	1.14	5.76	-2.6	0.06190	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.649357	0.16985	N	0.191542	T	0.18257	0.0438	L	0.31804	0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.25751	T	0.34	.	3.7554	0.08584	0.101:0.2922:0.3974:0.2094	.	1040	P01024	CO3_HUMAN	D	1040	ENSP00000245907:E1040D	ENSP00000245907:E1040D	E	-	3	2	C3	6645476	0.000000	0.05858	0.164000	0.22755	0.039000	0.13416	-1.638000	0.02013	-0.149000	0.11215	-0.142000	0.14014	GAG		TCGA-IB-7651-01A-11D-2154-08	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1	64	330	0	81	1	1	370	1784	0	81	2		0	0	0	0	0	2	1	1	62	325	0	80	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3	718	broad.mit.edu	37	19	6696635	6696635	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6696635A>C	ENST00000245907.6	-	22	2924	c.2832T>G	c.(2830-2832)gtT>gtG	p.V944V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3			72				Intravenous Immunoglobulin(DB00028)	CCAGGGTGCGAACAGCCACAG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000245907.6	1	1	hg19	CCDS32883.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	1	234	1160	0	212	1	1	299	1738	0	212	2		0	0	0	0	0	2	1	1	229	1123	0	209	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3	718	broad.mit.edu	37	19	6712565	6712565	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6712565G>A	ENST00000245907.6	-	10	1165	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3			72				Intravenous Immunoglobulin(DB00028)	GGGTGTCTTGGTGAAGTGGAT	0.612000																								0							SO:0001583	missense			ENST00000245907.6	1	1	hg19	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824585	0.71143	.	.	ENSG00000125730	ENST00000245907	T	0.31769	1.48	5.13	5.13	0.70059	.	0.153860	0.56097	D	0.000025	T	0.55401	0.1918	M	0.84082	2.675	0.31171	N	0.703253	D	0.89917	1.0	D	0.77557	0.99	T	0.60301	-0.7290	10	0.24483	T	0.36	.	13.1534	0.59503	0.0:0.1611:0.8389:0.0	.	358	P01024	CO3_HUMAN	I	358	ENSP00000245907:T358I	ENSP00000245907:T358I	T	-	2	0	C3	6663565	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.349000	0.44054	2.392000	0.81423	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	1	0	0	69	860	0	145	1	1	141	1798	0	145	2		0	0	0	0	0	2	1	1	69	843	0	145	2								-14.360460	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.890000	0.690000	1.000000	1.000000	0.889508	0.890000	1	7.800000e-01	1
GPR108	56927	broad.mit.edu	37	19	6732321	6732321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6732321G>A	ENST00000264080.7	-	12	1104	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	GPR108_ENST00000430424.4_Silent_p.L118L|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108			13					TTATCCGACAGGACGTACTTG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000264080.7	1	1	hg19	CCDS42479.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2	1	0	1	95	395	0	81	1	1	97	159	0	81	2		0	0	0	0	0	2	1	1	94	389	0	80	2								-3.353310	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR108	56927	broad.mit.edu	37	19	6733016	6733016	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733016G>T	ENST00000264080.7	-	10	941	c.915C>A	c.(913-915)atC>atA	p.I305I	GPR108_ENST00000430424.4_Silent_p.I63I|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108			13					AGAGGAGAGAGATGCTCTTGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000264080.7	0	1	hg19	CCDS42479.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2	0	0	0	10	73	0	16	1	9.999984e-01	52	195	0	16	2		0	0	0	0	0	2	1	9.974756e-01	10	73	0	15	2								-17.643810	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.982306	0.990000	1	9.900000e-01	1
GPR108	56927	broad.mit.edu	37	19	6733205	6733205	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733205G>T	ENST00000264080.7	-	9	857	c.831C>A	c.(829-831)ttC>ttA	p.F277L	GPR108_ENST00000430424.4_Missense_Mutation_p.F35L|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108			13					TGGACACCCAGAAGATGCCAG	0.622000																								0							SO:0001583	missense			ENST00000264080.7	1	1	hg19	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795685	0.31777	.	.	ENSG00000125734	ENST00000264080;ENST00000430424;ENST00000552585	T	0.19105	2.17	3.88	0.287	0.15714	.	0.226362	0.28036	U	0.016848	T	0.08846	0.0219	N	0.16368	0.405	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.21042	-1.0257	10	0.19147	T	0.46	-12.1953	2.8266	0.05487	0.3384:0.0:0.4603:0.2013	.	277	Q9NPR9	GP108_HUMAN	L	277;35;35	ENSP00000264080:F277L	ENSP00000264080:F277L	F	-	3	2	GPR108	6684205	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.852000	0.27764	0.419000	0.25927	0.561000	0.74099	TTC		TCGA-IB-7651-01A-11D-2154-08	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2	1	0	1	95	430	0	83	1	1	102	200	0	83	2		0	0	0	0	0	2	1	1	92	423	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIP10	9322	broad.mit.edu	37	19	6751138	6751138	+	Missense_Mutation	SNP	A	A	C	rs3210156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751138A>C	ENST00000313244.9	+	15	1757	c.1722A>C	c.(1720-1722)aaA>aaC	p.K574N	TRIP10_ENST00000600428.1_Missense_Mutation_p.K410N|TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10			16					AAGAAGACAAAGGGGACGGCT	0.617000																								0							SO:0001583	missense			ENST00000313244.9	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.93|17.93	3.508009|3.508009	0.64410|0.64410	.|.	.|.	ENSG00000125733|ENSG00000125733	ENST00000313285;ENST00000313244|ENST00000420690	T;T|.	0.45276|.	0.9;0.9|.	4.74|4.74	-0.401|-0.401	0.12407|0.12407	Src homology-3 domain (4);|.	0.270973|0.270973	0.36134|0.36134	N|N	0.002772|0.002772	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.31207|0.31207	0.915|0.915	0.50171|0.50171	D|D	0.999853|0.999853	D;D|P	0.89917|0.39250	0.991;1.0|0.665	D;D|B	0.91635|0.39805	0.991;0.999|0.31	T|T	0.17048|0.17048	-1.0382|-1.0382	10|9	0.87932|0.87932	D|D	0|0	-25.5666|-25.5666	8.7794|8.7794	0.34783|0.34783	0.6617:0.0:0.3383:0.0|0.6617:0.0:0.3383:0.0	.|.	574;518|528	Q15642;Q15642-2|G5E9U1	CIP4_HUMAN;.|.	N|T	518;574|528	ENSP00000320493:K518N;ENSP00000320117:K574N|.	ENSP00000320117:K574N|ENSP00000415493:K528T	K|K	+|+	3|2	2|0	TRIP10|TRIP10	6702138|6702138	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.957000|0.957000	0.61999|0.61999	0.858000|0.858000	0.27845|0.27845	-0.116000|-0.116000	0.11893|0.11893	0.254000|0.254000	0.18369|0.18369	AAA|AAG		TCGA-IB-7651-01A-11D-2154-08	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2	1	0	1	107	515	0	94	1	1	524	640	0	94	2		0	0	0	0	0	2	1	1	107	504	0	93	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH2D3A	10045	broad.mit.edu	37	19	6754363	6754363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754363C>T	ENST00000245908.6	-	7	1440	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A			24					CCCCTCAGTGCGGCTGCGCGC	0.751000																								0							SO:0001583	missense			ENST00000245908.6	0	1	hg19	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	1.228	-0.624921	0.03636	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28666	1.62;1.6	4.9	1.3	0.21679	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.450276	0.18831	N	0.129962	T	0.06735	0.0172	N	0.01352	-0.895	0.25151	N	0.990424	B;B	0.27450	0.179;0.013	B;B	0.15484	0.013;0.011	T	0.27434	-1.0074	10	0.09338	T	0.73	-1.1375	2.6013	0.04867	0.2148:0.3824:0.0:0.4028	.	269;391	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	391;269	ENSP00000245908:A391T;ENSP00000393303:A269T	ENSP00000245908:A391T	A	-	1	0	SH2D3A	6705363	0.001000	0.12720	0.991000	0.47740	0.226000	0.24999	0.199000	0.17237	0.486000	0.27676	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	1	0	0	7	40	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.834786e-01	7	40	0	8	2								-17.231710	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.780000	1.000000	1.000000	0.986588	0.990000	1	9.900000e-01	1
SH2D3A	10045	broad.mit.edu	37	19	6754423	6754423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754423C>T	ENST00000245908.6	-	7	1380	c.1111G>A	c.(1111-1113)Gcg>Acg	p.A371T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A			24					CCGGCCAGCGCCAGTGTCTGA	0.706000																								0							SO:0001583	missense			ENST00000245908.6	0	1	hg19	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770126	0.31320	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28069	1.63;1.63	4.9	-0.11	0.13580	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.664405	0.13120	N	0.412262	T	0.22244	0.0536	L	0.46741	1.465	0.24090	N	0.995915	B;B	0.18166	0.026;0.001	B;B	0.17433	0.018;0.011	T	0.24261	-1.0165	10	0.54805	T	0.06	-4.4563	3.4267	0.07413	0.4298:0.3462:0.14:0.084	.	249;371	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	371;249	ENSP00000245908:A371T;ENSP00000393303:A249T	ENSP00000245908:A371T	A	-	1	0	SH2D3A	6705423	0.196000	0.23350	0.357000	0.25798	0.351000	0.29236	-0.189000	0.09629	-0.162000	0.10964	-0.448000	0.05591	GCG		TCGA-IB-7651-01A-11D-2154-08	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	1	0	0	14	66	0	14	1	9.999756e-01	40	61	0	14	2		0	0	0	0	0	2	1	9.997571e-01	13	62	0	14	2								-19.999990	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999319	0.990000	1	9.900000e-01	1
SH2D3A	10045	broad.mit.edu	37	19	6760689	6760689	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6760689C>A	ENST00000245908.6	-	3	648	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A			24					ATCAGGGTGTCCTCGCTAAAG	0.602000																								0							SO:0001583	missense			ENST00000245908.6	1	1	hg19	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384192	0.25031	.	.	ENSG00000125731	ENST00000245908	T	0.16597	2.33	4.91	4.91	0.64330	.	0.151862	0.30126	N	0.010344	T	0.28200	0.0696	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	T	0.05550	-1.0878	10	0.02654	T	1	-19.2134	13.6482	0.62294	0.0:1.0:0.0:0.0	.	127	Q9BRG2	SH23A_HUMAN	Y	127	ENSP00000245908:D127Y	ENSP00000245908:D127Y	D	-	1	0	SH2D3A	6711689	0.899000	0.30636	0.998000	0.56505	0.559000	0.35586	2.484000	0.45242	2.598000	0.87819	0.549000	0.68633	GAC		TCGA-IB-7651-01A-11D-2154-08	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	1	0	1	29	112	0	28	1	9.999997e-01	37	68	0	28	2		0	0	0	0	0	2	1	1	28	112	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FSTL3	10272	broad.mit.edu	37	19	677877	677877	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:677877C>T	ENST00000166139.4	+	2	221	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)					all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			AGTGCTGTGCCTCCGGCAACA	0.647000			T	CCND1	B-CLL										Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0							SO:0001819	synonymous_variant			ENST00000166139.4	1	1	hg19	CCDS12040.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	0	0	1	96	400	1	98	1	1	36	200	1	98	10		0	0	0	0	0	2	1	1	95	395	1	95	18								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSTL3	10272	broad.mit.edu	37	19	681539	681539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:681539C>T	ENST00000166139.4	+	4	744	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)					all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CATCGGCGTGCGCCACGCGGG	0.697000			T	CCND1	B-CLL										Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0							SO:0001583	missense			ENST00000166139.4	1	1	hg19	CCDS12040.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432881	0.62844	.	.	ENSG00000070404	ENST00000166139	T	0.04119	3.7	3.88	3.88	0.44766	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.188903	0.47093	D	0.000242	T	0.20861	0.0502	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01378	-1.1370	10	0.62326	D	0.03	-31.728	14.5679	0.68191	0.0:1.0:0.0:0.0	.	238	O95633	FSTL3_HUMAN	C	238	ENSP00000166139:R238C	ENSP00000166139:R238C	R	+	1	0	FSTL3	632539	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	5.358000	0.66064	2.011000	0.59026	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	1	0	0	23	101	0	30	1	9.999996e-01	29	91	0	30	2		0	0	0	0	0	2	1	9.999997e-01	22	100	0	30	2								-20.000000	1	1	120176	2	20	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
VAV1	7409	broad.mit.edu	37	19	6820720	6820720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6820720G>A	ENST00000602142.1	+	2	294	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y|VAV1_ENST00000304076.2_Missense_Mutation_p.C71Y|VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor			62					CAGTTCCTGTGCCTTAAGAAC	0.557000																								0							SO:0001583	missense			ENST00000602142.1	1	1	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860052	0.71834	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.42131	0.98;0.98	4.76	4.76	0.60689	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.996;1.0	T	0.67209	-0.5728	10	0.87932	D	0	.	15.256	0.73585	0.0:0.0:1.0:0.0	.	6;71;16;71	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	71;6	ENSP00000302269:C71Y;ENSP00000443242:C6Y	ENSP00000302269:C71Y	C	+	2	0	VAV1	6771720	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	9.410000	0.97335	2.212000	0.71576	0.484000	0.47621	TGC		TCGA-IB-7651-01A-11D-2154-08	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1	132	446	0	125	0	9.860990e-01	0	25	0	125	2		0	0	0	0	0	2	1	1	132	433	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VAV1	7409	broad.mit.edu	37	19	6828154	6828154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828154G>A	ENST00000602142.1	+	10	1077	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q|VAV1_ENST00000304076.2_Missense_Mutation_p.R332Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor			62					CCTATGCAGCGAGTTCTCAAA	0.552000																								0							SO:0001583	missense			ENST00000602142.1	1	1	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235768	0.79800	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;D	0.87729	-0.27;-2.29	4.5	4.5	0.54988	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.95338	0.8487	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.98;0.999;0.998;1.0	P;P;D;D	0.74348	0.676;0.894;0.983;0.983	D	0.96788	0.9580	10	0.87932	D	0	.	14.7102	0.69225	0.0:0.0:1.0:0.0	.	235;332;277;332	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	332;235	ENSP00000302269:R332Q;ENSP00000443242:R235Q	ENSP00000302269:R332Q	R	+	2	0	VAV1	6779154	1.000000	0.71417	0.980000	0.43619	0.390000	0.30446	9.064000	0.93933	2.076000	0.62316	0.462000	0.41574	CGA		TCGA-IB-7651-01A-11D-2154-08	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1	39	219	0	54	0	8.626980e-01	0	22	0	54	2		0	0	0	0	0	2	1	1	38	218	0	52	2								-3.028808	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
VAV1	7409	broad.mit.edu	37	19	6828892	6828892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828892C>T	ENST00000602142.1	+	13	1328	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	VAV1_ENST00000599806.1_Missense_Mutation_p.R361W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W|VAV1_ENST00000304076.2_Missense_Mutation_p.R416W|VAV1_ENST00000596764.1_Missense_Mutation_p.R384W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor			62					CTCGGTGGAACGGCGCTCCAA	0.612000																								0							SO:0001583	missense			ENST00000602142.1	1	1	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651623	0.67472	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.88586	-2.4;-2.4	5.25	-4.27	0.03744	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.188612	0.43110	D	0.000606	D	0.89178	0.6641	L	0.36672	1.1	0.37942	D	0.932369	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.68765	0.831;0.922;0.941;0.96	D	0.87035	0.2137	10	0.38643	T	0.18	.	16.8943	0.86096	0.8235:0.1765:0.0:0.0	.	319;416;361;416	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	416;319	ENSP00000302269:R416W;ENSP00000443242:R319W	ENSP00000302269:R416W	R	+	1	2	VAV1	6779892	0.969000	0.33509	0.411000	0.26484	0.687000	0.40016	0.569000	0.23638	-0.333000	0.08476	-0.238000	0.12139	CGG		TCGA-IB-7651-01A-11D-2154-08	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1	39	219	0	53	1	9.937139e-01	3	44	0	53	2		0	0	0	0	0	2	1	1	37	216	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
VAV1	7409	broad.mit.edu	37	19	6836997	6836997	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6836997G>A	ENST00000602142.1	+	21	1998	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D	VAV1_ENST00000599806.1_Splice_Site_p.G584D|VAV1_ENST00000539284.1_Splice_Site_p.G542D|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000596764.1_Splice_Site_p.G607D	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor			62					GGTGTTTAGGGCAGAAATACA	0.473000																								0							SO:0001630	splice_region_variant			ENST00000602142.1	1	0	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092902	0.56075	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.58940	0.67;0.3	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.88704	2.975	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.967;0.987;0.998	D	0.83437	0.0041	10	0.59425	D	0.04	.	15.7303	0.77794	0.0:0.0:1.0:0.0	.	542;584;639	F5H5P4;Q96D37;P15498	.;.;VAV_HUMAN	D	639;542	ENSP00000302269:G639D;ENSP00000443242:G542D	ENSP00000302269:G639D	G	+	2	0	VAV1	6787997	1.000000	0.71417	0.999000	0.59377	0.294000	0.27393	7.495000	0.81514	2.307000	0.77673	0.478000	0.44815	GGC		TCGA-IB-7651-01A-11D-2154-08	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	1	94	573	0	118	0	8.689452e-01	0	24	0	118	2		0	0	0	0	0	2	1	1	93	563	0	118	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VAV1	7409	broad.mit.edu	37	19	6848025	6848025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6848025G>T	ENST00000602142.1	+	23	2111	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.E655*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor			62					AGGCCCCATGGAGCGGGCAGG	0.602000																								0							SO:0001587	stop_gained			ENST00000602142.1	0	1	hg19	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926758	0.92319	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	3.68	3.68	0.42216	.	0.065910	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.9492	0.58389	0.0:0.0:1.0:0.0	.	.	.	.	X	677;580	.	ENSP00000302269:E677X	E	+	1	0	VAV1	6799025	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	8.064000	0.89483	1.890000	0.54733	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	1	0	0	55	527	0	110	0	8.426331e-01	0	34	0	110	2		0	0	0	0	0	2	1	1	54	522	0	110	2								-16.586010	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.860000	1.000000	1.000000	0.987960	0.990000	1	9.800000e-01	1
EMR1	2015	broad.mit.edu	37	19	6924844	6924844	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6924844G>A	ENST00000312053.4	+	15	1984	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	EMR1_ENST00000381407.5_Silent_p.K508K|EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.K597K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1			62	all_hematologic(4;0.166)				TCTTGGCGAAGACTCTCTTCC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000312053.4	1	1	hg19	CCDS12175.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	1	0	1	67	269	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	65	265	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EMR1	2015	broad.mit.edu	37	19	6926385	6926385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6926385C>T	ENST00000312053.4	+	16	2032	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	EMR1_ENST00000381407.5_Silent_p.C524C|EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000250572.8_Silent_p.C600C|EMR1_ENST00000381404.4_Silent_p.C613C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1			62	all_hematologic(4;0.166)				AGATGGGCTGCGCCATCATCG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000312053.4	0	1	hg19	CCDS12175.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	0	0	0	6	253	0	46	0	4.692565e-03	0	4	0	46	2		0	0	0	0	0	2	1	9.633229e-01	6	248	0	46	2								-6.907357	1	0	121412	1	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.300000	0.120000	1.000000	0.270000	0.368135	0.300000	0	1.900000e-01	4.800000e-01
ZNF557	79230	broad.mit.edu	37	19	7076418	7076418	+	Silent	SNP	C	C	T	rs2303796	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7076418C>T	ENST00000439035.2	+	5	366	c.126C>T	c.(124-126)gcC>gcT	p.A42A	ZNF557_ENST00000414706.1_Silent_p.A49A|ZNF557_ENST00000252840.6_Silent_p.A49A			Q8N988	ZN557_HUMAN	zinc finger protein 557	p.A49A(1)		17					AGGATGTGGCCGTGGAGTTCA	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000439035.2	1	0	hg19	CCDS45945.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	1	0	1	112	429	0	128	1	9.885229e-01	9	20	0	128	2		0	0	0	0	0	2	1	1	110	419	0	128	2								-1.707342	0	1	121412	4364	69	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF557	79230	broad.mit.edu	37	19	7081411	7081411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7081411G>A	ENST00000439035.2	+	6	507	c.267G>A	c.(265-267)gaG>gaA	p.E89E	ZNF557_ENST00000414706.1_Silent_p.E96E|ZNF557_ENST00000252840.6_Silent_p.E96E			Q8N988	ZN557_HUMAN	zinc finger protein 557			17					CCCAGCTGGAGCAAGAAGATA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000439035.2	1	1	hg19	CCDS45945.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	1	0	1	29	105	0	23	1	9.321232e-01	8	11	0	23	2		0	0	0	0	0	2	1	1	29	103	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF557	79230	broad.mit.edu	37	19	7083365	7083365	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083365C>T	ENST00000439035.2	+	8	1122	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ZNF557_ENST00000414706.1_Silent_p.F301F|ZNF557_ENST00000252840.6_Silent_p.F301F			Q8N988	ZN557_HUMAN	zinc finger protein 557			17					GAAAGGCTTTCGGCACGAGGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000439035.2	1	1	hg19	CCDS45945.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	1	0	1	130	596	0	125	1	9.978720e-01	10	34	0	125	2		0	0	0	0	0	2	1	1	130	580	0	125	2								-3.179944	1	1	121272	3	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF557	79230	broad.mit.edu	37	19	7083484	7083484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083484C>T	ENST00000439035.2	+	8	1241	c.1001C>T	c.(1000-1002)aCt>aTt	p.T334I	ZNF557_ENST00000414706.1_Missense_Mutation_p.T341I|ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I			Q8N988	ZN557_HUMAN	zinc finger protein 557			17					CACATAAGAACTCATACTGGA	0.423000																								0							SO:0001583	missense			ENST00000439035.2	1	1	hg19	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	C	1.185	-0.637016	0.03557	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.12672	2.66;2.66;2.66	1.32	0.255	0.15561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.17379	0.485	0.20926	N	0.99983	B;B	0.28512	0.214;0.178	B;B	0.27380	0.079;0.047	T	0.39522	-0.9610	9	0.02654	T	1	.	5.2928	0.15737	0.0:0.784:0.0:0.216	.	334;341	Q8N988;Q8N988-2	ZN557_HUMAN;.	I	341;341;334	ENSP00000252840:T341I;ENSP00000404065:T341I;ENSP00000398965:T334I	ENSP00000252840:T341I	T	+	2	0	ZNF557	7034484	0.000000	0.05858	0.881000	0.34555	0.052000	0.14988	-0.121000	0.10643	0.132000	0.18615	0.313000	0.20887	ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	1	0	1	68	343	0	85	1	9.103528e-01	4	19	0	85	2		0	0	0	0	0	2	1	1	68	339	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INSR	3643	broad.mit.edu	37	19	7117408	7117408	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7117408G>A	ENST00000302850.5	-	22	3950	c.3808C>T	c.(3808-3810)Cgc>Tgc	p.R1270C	INSR_ENST00000341500.5_Missense_Mutation_p.R1258C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor			66				"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CAGCACATGCGCATGAGGTCA	0.607000																								0							SO:0001583	missense			ENST00000302850.5	1	1	hg19	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249741	0.59212	0.0	1.16E-4	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83163	-1.69;-1.69	5.14	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.618783	0.13790	N	0.362574	T	0.77631	0.4159	L	0.50993	1.605	0.54753	D	0.999989	B;P	0.34522	0.401;0.455	B;B	0.27170	0.075;0.077	T	0.77289	-0.2643	10	0.66056	D	0.02	.	12.7767	0.57453	0.0:0.0:0.835:0.165	.	1258;1270	P06213-2;P06213	.;INSR_HUMAN	C	1270;1258	ENSP00000303830:R1270C;ENSP00000342838:R1258C	ENSP00000303830:R1270C	R	-	1	0	INSR	7068408	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	5.099000	0.64554	1.361000	0.45981	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	1	0	1	71	254	0	74	1	1	82	167	0	74	2		0	0	0	0	0	2	1	1	69	250	0	74	2								-20.000000	1	1	121412	3	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INSR	3643	broad.mit.edu	37	19	7142938	7142938	+	Missense_Mutation	SNP	C	C	T	rs35045353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7142938C>T	ENST00000302850.5	-	12	2573	c.2431G>A	c.(2431-2433)Ggc>Agc	p.G811S	INSR_ENST00000341500.5_Missense_Mutation_p.G799S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor			66				"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGTCGCAAGCCGGAGATGACC	0.612000																								0							SO:0001583	missense			ENST00000302850.5	1	1	hg19	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919593	0.52653	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.71579	-0.58;-0.58	5.56	5.56	0.83823	Fibronectin, type III (3);	0.000000	0.45867	U	0.000332	T	0.70245	0.3202	M	0.79123	2.44	0.45822	D	0.998691	B;B	0.34200	0.103;0.441	B;B	0.27796	0.083;0.061	T	0.70788	-0.4777	10	0.36615	T	0.2	.	17.0297	0.86457	0.0:1.0:0.0:0.0	rs35045353	799;811	P06213-2;P06213	.;INSR_HUMAN	S	811;799	ENSP00000303830:G811S;ENSP00000342838:G799S	ENSP00000303830:G811S	G	-	1	0	INSR	7093938	0.970000	0.33590	0.957000	0.39632	0.675000	0.39556	2.293000	0.43558	2.609000	0.88269	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	1	0	1	25	124	0	50	1	9.999998e-01	46	95	0	50	2		0	0	0	0	0	2	1	9.999999e-01	25	120	0	49	2								-3.308030	1	1	121412	5	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
INSR	3643	broad.mit.edu	37	19	7172365	7172365	+	Missense_Mutation	SNP	C	C	T	rs144929085		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7172365C>T	ENST00000302850.5	-	5	1346	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	INSR_ENST00000341500.5_Missense_Mutation_p.A402T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor			66				"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GACACCAGAGCGTAGGATCGG	0.483000																								0							SO:0001583	missense			ENST00000302850.5	1	1	hg19	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550778	0.86127	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82984	-1.67;-1.67	4.94	4.94	0.65067	EGF receptor, L domain (1);	0.000000	0.45867	D	0.000338	T	0.81588	0.4854	L	0.60957	1.885	0.80722	D	1	D;D;D	0.57899	0.981;0.972;0.961	B;B;B	0.43889	0.381;0.4;0.435	T	0.83015	-0.0170	10	0.44086	T	0.13	.	15.6761	0.77326	0.0:1.0:0.0:0.0	.	393;402;402	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	T	402	ENSP00000303830:A402T;ENSP00000342838:A402T	ENSP00000303830:A402T	A	-	1	0	INSR	7123365	1.000000	0.71417	0.792000	0.32020	0.763000	0.43281	7.459000	0.80802	2.294000	0.77228	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	1	0	1	113	440	0	104	1	1	44	94	0	104	2		0	0	0	0	0	2	1	1	111	424	0	103	2								-3.735104	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PALM	5064	broad.mit.edu	37	19	746591	746591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746591C>T	ENST00000338448.5	+	9	987	c.941C>T	c.(940-942)aCc>aTc	p.T314I	PALM_ENST00000264560.7_Missense_Mutation_p.T270I|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin			11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			GAGGCCGAGACCAAGAAGGTG	0.652000																								0							SO:0001583	missense			ENST00000338448.5	1	1	hg19	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751746	0.69533	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.30182	1.54;1.54	4.92	1.25	0.21368	.	0.110204	0.64402	D	0.000010	T	0.51126	0.1656	M	0.77103	2.36	0.45762	D	0.99865	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	T	0.53655	-0.8408	10	0.87932	D	0	-25.5817	10.0812	0.42391	0.1401:0.5653:0.2946:0.0	.	270;314	O75781-2;O75781	.;PALM_HUMAN	I	314;270;179	ENSP00000341911:T314I;ENSP00000264560:T270I	ENSP00000264560:T270I	T	+	2	0	PALM	697591	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.710000	0.54860	0.444000	0.26612	0.462000	0.41574	ACC		TCGA-IB-7651-01A-11D-2154-08	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	1	0	1	36	194	0	30	0	8.754625e-01	0	22	0	30	2		0	0	0	0	0	2	1	1	36	190	0	30	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
PALM	5064	broad.mit.edu	37	19	746669	746669	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746669C>A	ENST00000338448.5	+	9	1065	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	PALM_ENST00000264560.7_Missense_Mutation_p.P296H|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin			11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CCCAAGGAGCCTGCACCACCC	0.667000																								0							SO:0001583	missense			ENST00000338448.5	1	1	hg19	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306653	0.40795	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.17054	2.3;2.3	4.72	4.72	0.59763	.	0.620673	0.15422	U	0.263170	T	0.22742	0.0549	M	0.72118	2.19	0.30887	N	0.730813	B;B	0.22746	0.074;0.053	B;B	0.22152	0.022;0.038	T	0.08513	-1.0718	10	0.54805	T	0.06	-9.4528	12.4245	0.55538	0.1799:0.8201:0.0:0.0	.	296;340	O75781-2;O75781	.;PALM_HUMAN	H	340;296;205	ENSP00000341911:P340H;ENSP00000264560:P296H	ENSP00000264560:P296H	P	+	2	0	PALM	697669	0.000000	0.05858	0.761000	0.31378	0.168000	0.22595	1.022000	0.30052	2.154000	0.67381	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	1	0	0	28	106	0	26	0	9.974130e-01	0	39	0	26	2		0	0	0	0	0	2	1	1	28	106	0	25	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C19orf45	374877	broad.mit.edu	37	19	7569075	7569075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7569075G>A	ENST00000361664.2	+	3	787	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45			8					ACAGTTCCAGGCCCTGCCAGG	0.602000																								0							SO:0001583	missense			ENST00000361664.2	1	1	hg19	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	g	18.74	3.688119	0.68271	.	.	ENSG00000198723	ENST00000419849;ENST00000361664	T	0.21361	2.01	4.02	1.81	0.25067	.	0.357489	0.29260	N	0.012663	T	0.29190	0.0726	M	0.62723	1.935	0.27481	N	0.952574	D	0.59357	0.985	P	0.55087	0.768	T	0.07271	-1.0781	10	0.62326	D	0.03	-29.0344	4.9702	0.14111	0.0994:0.0:0.5207:0.3799	.	216	Q8NA69	CS045_HUMAN	T	216	ENSP00000355241:A216T	ENSP00000355241:A216T	A	+	1	0	C19orf45	7475075	0.998000	0.40836	0.876000	0.34364	0.991000	0.79684	2.288000	0.43514	0.628000	0.30357	0.536000	0.68110	GCC		TCGA-IB-7651-01A-11D-2154-08	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	1	0	1	34	148	0	51	0	3.661726e-02	0	2	0	51	2		0	0	0	0	0	2	1	1	33	137	0	51	2								-3.412268	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF358	140467	broad.mit.edu	37	19	7584405	7584405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7584405G>A	ENST00000597229.1	+	2	447	c.277G>A	c.(277-279)Gac>Aac	p.D93N	CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358			8					TTCGAGTTTCGACCTCGATCC	0.607000																								0							SO:0001583	missense			ENST00000597229.1	1	1	hg19	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655071	0.67472	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07327	3.2	3.91	3.91	0.45181	.	.	.	.	.	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	0.999998	P	0.43885	0.82	B	0.26969	0.075	T	0.38542	-0.9656	9	0.26408	T	0.33	-25.3346	14.2642	0.66104	0.0:0.0:1.0:0.0	.	93	Q9NW07	ZN358_HUMAN	N	93	ENSP00000377873:D93N	ENSP00000354703:D93N	D	+	1	0	ZNF358	7490405	0.975000	0.34042	0.250000	0.24296	0.609000	0.37215	3.926000	0.56491	2.137000	0.66172	0.456000	0.33151	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1	1	0	0	34	746	0	188	1	9.980974e-01	5	203	0	188	2		0	0	0	0	0	2	1	1	34	735	0	185	2								-4.480660	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.520000	0.360000	1.000000	0.510000	0.566063	0.520000	0	4.400000e-01	6.500000e-01
MCOLN1	57192	broad.mit.edu	37	19	7591439	7591439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7591439G>A	ENST00000264079.6	+	3	477	c.352G>A	c.(352-354)Gca>Aca	p.A118T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1			18					TGACACCTTCGCAGCCTACAC	0.632000																								0							SO:0001583	missense			ENST00000264079.6	1	1	hg19	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020411	0.93462	.	.	ENSG00000090674	ENST00000264079	T	0.61158	0.13	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.61703	1.905	0.80722	D	1	D	0.62365	0.991	P	0.53809	0.735	T	0.64283	-0.6444	10	0.32370	T	0.25	.	16.8808	0.86062	0.0:0.0:1.0:0.0	.	118	Q9GZU1	MCLN1_HUMAN	T	118	ENSP00000264079:A118T	ENSP00000264079:A118T	A	+	1	0	MCOLN1	7497439	1.000000	0.71417	0.119000	0.21687	0.983000	0.72400	7.659000	0.83766	2.572000	0.86782	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	1	0	1	108	549	0	132	1	9.999999e-01	18	100	0	132	2		0	0	0	0	0	2	1	1	104	533	0	128	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCOLN1	57192	broad.mit.edu	37	19	7595239	7595239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595239C>T	ENST00000264079.6	+	12	1552	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1			18					ATGTTTGTGACGTTCGCCGCC	0.602000																								0							SO:0001583	missense			ENST00000264079.6	1	1	hg19	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457621	0.84317	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.87809	-2.3	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.94775	0.7948	10	0.87932	D	0	.	16.4162	0.83743	0.0:1.0:0.0:0.0	.	441;476	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	476;441	ENSP00000264079:T476M	ENSP00000264079:T476M	T	+	2	0	MCOLN1	7501239	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	7.487000	0.81328	2.478000	0.83669	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	1	0	1	288	1293	0	246	1	1	25	123	0	246	2		0	0	0	0	0	2	1	1	285	1269	0	243	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCOLN1	57192	broad.mit.edu	37	19	7595335	7595335	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595335T>C	ENST00000264079.6	+	12	1648	c.1523T>C	c.(1522-1524)aTg>aCg	p.M508T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1			18					TTCATCTACATGGTGCTCAGC	0.627000																								0							SO:0001583	missense			ENST00000264079.6	0	1	hg19	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.025915	0.54683	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.69926	-0.44	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.71581	2.175	0.80722	D	1	B;P	0.36647	0.198;0.563	B;B	0.37989	0.234;0.262	T	0.68922	-0.5281	10	0.45353	T	0.12	.	13.1711	0.59599	0.0:0.0:0.0:1.0	.	473;508	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	T	508;473	ENSP00000264079:M508T	ENSP00000264079:M508T	M	+	2	0	MCOLN1	7501335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.005000	0.58758	0.460000	0.39030	ATG		TCGA-IB-7651-01A-11D-2154-08	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	0	0	0	20	1679	0	320	0	3.651752e-01	1	103	0	320	2		0	0	0	0	0	2	1	9.999934e-01	20	1640	0	319	2								-9.727126	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.140000	0.080000	1.000000	0.140000	0.215163	0.140000	0	1.100000e-01	1.900000e-01
MCOLN1	57192	broad.mit.edu	37	19	7595344	7595344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595344G>A	ENST00000264079.6	+	12	1657	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1			18					ATGGTGCTCAGCCTCTTCATC	0.627000																								0							SO:0001583	missense			ENST00000264079.6	1	1	hg19	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497304	0.85069	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.64260	-0.09	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.092272	0.85682	D	0.000000	T	0.71651	0.3365	L	0.58583	1.82	0.58432	D	0.999999	P;P	0.50710	0.711;0.938	P;D	0.65233	0.747;0.933	T	0.65772	-0.6087	10	0.07325	T	0.83	.	16.4162	0.83743	0.0:0.0:1.0:0.0	.	476;511	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	N	511;476	ENSP00000264079:S511N	ENSP00000264079:S511N	S	+	2	0	MCOLN1	7501344	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	5.746000	0.68681	2.478000	0.83669	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	0	0	1	290	1330	1	306	1	9.999950e-01	29	62	1	306	3		0	0	0	0	0	2	1	1	284	1305	0	307	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPLA6	10908	broad.mit.edu	37	19	7606952	7606952	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7606952A>G	ENST00000221249.6	+	13	1565	c.1134A>G	c.(1132-1134)tcA>tcG	p.S378S	PNPLA6_ENST00000600737.1_Splice_Site_p.S417S|PNPLA6_ENST00000414982.3_Splice_Site_p.S426S|PNPLA6_ENST00000450331.3_Splice_Site_p.S378S|PNPLA6_ENST00000545201.2_Splice_Site_p.S378S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6			35					GGGACATCTCAGGTTTGGAGC	0.602000																								0							SO:0001630	splice_region_variant			ENST00000221249.6	1	0	hg19	CCDS32891.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	1	0	1	58	238	0	48	0	9.999978e-01	0	82	0	48	2		0	0	0	0	0	2	1	1	57	237	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPLA6	10908	broad.mit.edu	37	19	7615445	7615445	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7615445G>A	ENST00000221249.6	+	19	2303	c.1872G>A	c.(1870-1872)ggG>ggA	p.G624G	PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000414982.3_Silent_p.G672G|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6			35					TGCTCAATGGGCGGCTGCGTA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000221249.6	1	1	hg19	CCDS32891.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	1	0	1	34	125	0	27	1	9.999997e-01	16	78	0	27	2		0	0	0	0	0	2	1	1	34	122	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPLA6	10908	broad.mit.edu	37	19	7619930	7619930	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7619930G>T	ENST00000221249.6	+	25	3103	c.2672G>T	c.(2671-2673)cGc>cTc	p.R891L	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R929L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R864L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6			35					TGTCCGCGCCGCCTCTTTTCG	0.726000																								0							SO:0001583	missense			ENST00000221249.6	0	1	hg19	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.799649	0.90538	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.83953	2.67	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.899;0.997	D;D;P;P	0.97110	1.0;1.0;0.648;0.9	T	0.60031	-0.7342	10	0.59425	D	0.04	.	16.613	0.84899	0.0:0.0:1.0:0.0	.	930;864;929;891	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	L	891;864;939;891	ENSP00000221249:R891L;ENSP00000443323:R864L;ENSP00000407509:R939L;ENSP00000394348:R891L	ENSP00000221249:R891L	R	+	2	0	PNPLA6	7525930	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.894000	0.87336	2.523000	0.85059	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	1	0	0	11	88	0	9	1	9.869918e-01	15	48	0	9	2		0	0	0	0	0	2	1	9.984887e-01	11	86	0	9	2								-18.044640	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.720000	1.000000	1.000000	0.976421	0.990000	1	9.900000e-01	1
XAB2	56949	broad.mit.edu	37	19	7687518	7687518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687518G>A	ENST00000358368.4	-	11	1438	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	XAB2_ENST00000534844.1_Silent_p.A464A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2			26					CAAAGTACTCGGCCCGGCGGG	0.672000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000358368.4	1	1	hg19	CCDS32892.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	1	0	1	38	350	0	65	1	9.999411e-01	17	119	0	65	2		0	0	0	0	0	2	1	1	38	349	0	62	2								-20.000000	1	1	121366	4	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.987462	0.990000	1	9.900000e-01	1
XAB2	56949	broad.mit.edu	37	19	7687725	7687725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687725G>T	ENST00000358368.4	-	10	1331	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2			26					ACGCTTGCCAGGTCATCCACC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000358368.4	1	1	hg19	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828483	0.71258	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.18960	2.18;2.18	5.36	2.88	0.33553	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000004	T	0.51346	0.1669	M	0.92169	3.28	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.59857	-0.7375	10	0.87932	D	0	-22.9572	9.4517	0.38729	0.2587:0.0:0.7413:0.0	.	432	Q9HCS7	SYF1_HUMAN	M	432;429	ENSP00000351137:L432M;ENSP00000438225:L429M	ENSP00000351137:L432M	L	-	1	2	XAB2	7593725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.783000	0.55409	1.276000	0.44395	-0.140000	0.14226	CTG		TCGA-IB-7651-01A-11D-2154-08	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	1	0	1	13	185	0	39	1	9.952611e-01	16	115	0	39	2		0	0	0	0	0	2	1	9.995600e-01	13	183	0	37	2								-16.963080	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.810000	0.450000	1.000000	1.000000	0.804281	0.810000	0	6.100000e-01	1
XAB2	56949	broad.mit.edu	37	19	7693095	7693095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7693095G>A	ENST00000358368.4	-	2	178	c.141C>T	c.(139-141)ggC>ggT	p.G47G	PET100_ENST00000601406.1_5'Flank|PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.G44G|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2			26					GCTTCGGGGCGCCCTGTTTGA	0.612000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000358368.4	1	1	hg19	CCDS32892.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	1	0	1	51	202	0	32	1	1	44	120	0	32	2		0	0	0	0	0	2	1	1	51	199	0	31	2								-20.000000	1	1	121408	2	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP2	6813	broad.mit.edu	37	19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707143G>A	ENST00000221283.5	+	9	749	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M|STXBP2_ENST00000441779.2_Missense_Mutation_p.V251M	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2			23					AGCTGACCCCGTGTCCCCACT	0.607000																								0							SO:0001583	missense			ENST00000221283.5	1	1	hg19	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415727	0.42817	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79845	-1.31;-1.31;-1.31	4.54	1.23	0.21249	.	0.085246	0.51477	D	0.000093	D	0.82701	0.5094	L	0.49455	1.56	0.39014	D	0.959618	D;P;D;D	0.65815	0.995;0.928;0.994;0.995	D;P;P;D	0.64144	0.922;0.862;0.872;0.922	T	0.81125	-0.1075	10	0.87932	D	0	-13.0072	8.0099	0.30347	0.2786:0.0:0.7214:0.0	.	251;206;237;240	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	M	240;237;251;240	ENSP00000221283:V240M;ENSP00000409471:V237M;ENSP00000413606:V251M	ENSP00000221283:V240M	V	+	1	0	STXBP2	7613143	1.000000	0.71417	0.093000	0.20910	0.542000	0.35054	3.277000	0.51654	0.052000	0.16007	-0.216000	0.12614	GTG		TCGA-IB-7651-01A-11D-2154-08	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	0	0	0	11	303	0	72	1	9.993946e-01	29	341	0	72	2		0	0	0	0	0	2	1	9.981969e-01	10	297	0	72	2								-11.808020	1	1	121410	2	33	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.440000	0.220000	1.000000	0.400000	0.488882	0.440000	0	3.200000e-01	6.200000e-01
STXBP2	6813	broad.mit.edu	37	19	7707366	7707366	+	Silent	SNP	C	C	T	rs143108973	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707366C>T	ENST00000221283.5	+	10	877	c.846C>T	c.(844-846)gaC>gaT	p.D282D	STXBP2_ENST00000414284.2_Silent_p.D279D|STXBP2_ENST00000441779.2_Silent_p.D293D	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2			23					TCTTGCTGGACGAGGACGATG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000221283.5	1	1	hg19	CCDS12181.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	1	0	0	217	833	0	182	1	1	173	329	0	182	2		0	0	0	0	0	2	1	1	215	821	0	179	2								-20.000000	1	1	121412	41	51	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAPPC5	126003	broad.mit.edu	37	19	7747600	7747600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7747600G>A	ENST00000317378.5	+	2	648	c.461G>A	c.(460-462)aGc>aAc	p.S154N	TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5			3					CTCACACACAGCGGCTTCCCT	0.642000																								0							SO:0001583	missense			ENST00000317378.5	1	1	hg19	CCDS42490.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041884	0.75732	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.43688	0.94;0.94	3.93	3.93	0.45458	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.57140	0.2033	M	0.85299	2.745	0.47511	D	0.99944	P	0.48640	0.913	P	0.49953	0.627	T	0.67405	-0.5679	10	0.72032	D	0.01	-10.8396	13.4726	0.61290	0.0:0.0:1.0:0.0	.	154	Q8IUR0	TPPC5_HUMAN	N	154	ENSP00000316990:S154N;ENSP00000399025:S154N	ENSP00000316990:S154N	S	+	2	0	TRAPPC5	7653600	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.357000	0.79456	1.767000	0.52121	0.306000	0.20318	AGC		TCGA-IB-7651-01A-11D-2154-08	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	1	0	1	19	120	0	27	1	1	161	422	0	27	2		0	0	0	0	0	2	1	9.999942e-01	19	120	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998378	0.990000	1	9.900000e-01	1
CLEC4G	339390	broad.mit.edu	37	19	7796186	7796186	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7796186C>T	ENST00000328853.5	-	3	254	c.186G>A	c.(184-186)gcG>gcA	p.A62A	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G			6					CGTCAAGCAGCGCCGCGCGCT	0.726000													Esophageal Squamous(146;540 1807 3349 19438 30853)											0							SO:0001819	synonymous_variant			ENST00000328853.5	0	1	hg19	CCDS12185.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	1	0	0	7	47	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.818762e-01	7	46	0	9	2								-14.169140	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.700000	1.000000	1.000000	0.977516	0.990000	1	9.900000e-01	1
CD209	30835	broad.mit.edu	37	19	7810795	7810795	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7810795C>T	ENST00000315599.7	-	4	379	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000593660.1_Silent_p.K95K|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000315591.8_Silent_p.K95K|CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000394173.4_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule			35					TCTCCTGCAGCTTAGATTTCT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000315599.7	1	1	hg19	CCDS12186.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	1	0	0	41	854	0	203	0	3.987356e-02	0	7	0	203	2		0	0	0	0	0	2		0	0	0	0	0	2								-5.360695	1	0	121412	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.550000	0.390000	1.000000	0.540000	0.588845	0.550000	0	4.600000e-01	6.700000e-01
CLEC4M	10332	broad.mit.edu	37	19	7831659	7831659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7831659C>T	ENST00000327325.5	+	5	1020	c.902C>T	c.(901-903)gCc>gTc	p.A301V	CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M			26					GAAGTGAGGGCCCAGCTCGTC	0.592000																								0							SO:0001583	missense			ENST00000327325.5	1	1	hg19	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130790	0.56828	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.94	2.57	2.57	0.30868	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.60418	0.2267	H	0.96015	3.755	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.989;0.999;0.997;0.952;0.999;0.999;0.994	T	0.51212	-0.8734	9	0.87932	D	0	.	8.8251	0.35050	0.0:1.0:0.0:0.0	.	250;234;301;289;278;273;165;209	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	V	301;289;279;250;234;301;245	ENSP00000316228:A301V;ENSP00000377680:A289V;ENSP00000248228:A279V;ENSP00000335228:A250V;ENSP00000351954:A234V;ENSP00000349924:A301V	ENSP00000248228:A279V	A	+	2	0	CLEC4M	7737659	0.001000	0.12720	0.202000	0.23494	0.138000	0.21146	0.626000	0.24492	1.754000	0.51921	0.556000	0.70494	GCC		TCGA-IB-7651-01A-11D-2154-08	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	0	0	1	91	367	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	89	355	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC8E	80131	broad.mit.edu	37	19	7963918	7963918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7963918G>A	ENST00000306708.6	+	3	612	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E			35					CGAGGTATCCGGGGAGAACCA	0.627000																								0							SO:0001583	missense			ENST00000306708.6	1	1	hg19	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405485	0.42715	.	.	ENSG00000171017	ENST00000306708	T	0.26373	1.74	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.42245	1.32	0.48571	D	0.999674	D	0.71674	0.998	P	0.60609	0.877	T	0.07790	-1.0754	10	0.52906	T	0.07	.	16.2508	0.82485	0.0:0.0:1.0:0.0	.	171	Q6NSJ5	LRC8E_HUMAN	R	171	ENSP00000306524:G171R	ENSP00000306524:G171R	G	+	1	0	LRRC8E	7869918	1.000000	0.71417	0.984000	0.44739	0.919000	0.55068	5.465000	0.66725	2.709000	0.92574	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	1	0	1	130	509	0	116	1	9.681869e-01	5	19	0	116	2		0	0	0	0	0	2	1	1	129	505	0	116	2								-2.814880	1	1	121412	3	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP2K7	5609	broad.mit.edu	37	19	7974947	7974947	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7974947G>A	ENST00000397979.3	+	3	320		c.e3-1		MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000545011.1_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7			19					CATGTCCCCAGCATTGAGATT	0.622000																								0							SO:0001630	splice_region_variant			ENST00000397979.3	0	1	hg19	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901762	0.52227	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	.	.	.	4.69	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9413	0.47275	0.0938:0.0:0.9062:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K7	7880947	1.000000	0.71417	0.988000	0.46212	0.856000	0.48823	3.565000	0.53798	1.118000	0.41863	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1	1	0	0	5	56	0	17	0	0	0	1	0	17	2		0	0	0	0	0	2	1	9.375927e-01	5	55	0	17	2								-9.914719	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.400000	1.000000	1.000000	0.876379	0.990000	1	6.600000e-01	1
MAP2K7	5609	broad.mit.edu	37	19	7975916	7975916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7975916G>A	ENST00000397979.3	+	7	781	c.727G>A	c.(727-729)Gac>Aac	p.D243N	MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000545011.1_Missense_Mutation_p.D285N|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243N|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7			19					CATCCACCGCGACGTCAAGCC	0.632000																								0							SO:0001583	missense			ENST00000397979.3	1	1	hg19	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583767	0.96578	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97502	1.0061	10	0.87932	D	0	-9.0758	17.0918	0.86624	0.0:0.0:1.0:0.0	.	243;243	O14733-4;O14733	.;MP2K7_HUMAN	N	243;259;285;259;243	ENSP00000381068:D243N;ENSP00000381070:D259N;ENSP00000443946:D285N;ENSP00000381066:D243N	ENSP00000381066:D243N	D	+	1	0	MAP2K7	7881916	1.000000	0.71417	0.960000	0.40013	0.807000	0.45602	7.652000	0.83633	2.711000	0.92665	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1	1	0	1	51	229	0	55	1	9.999993e-01	29	69	0	55	2		0	0	0	0	0	2	1	1	51	223	0	54	2								-3.343406	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIMM44	10469	broad.mit.edu	37	19	8003069	8003069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8003069G>A	ENST00000270538.3	-	3	423	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)			17					GTTTCCAGAAGAATATGATTT	0.323000																								0							SO:0001583	missense			ENST00000270538.3	0	1	hg19	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299061	0.81025	.	.	ENSG00000104980	ENST00000270538	T	0.79845	-1.31	5.38	5.38	0.77491	.	0.063727	0.64402	D	0.000003	D	0.89121	0.6625	M	0.83953	2.67	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	D	0.89739	0.3932	10	0.51188	T	0.08	-10.6985	16.6135	0.84900	0.0:0.0:1.0:0.0	.	52	O43615	TIM44_HUMAN	F	52	ENSP00000270538:S52F	ENSP00000270538:S52F	S	-	2	0	TIMM44	7909069	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.356000	0.90085	2.531000	0.85337	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3	0	0	0	55	267	0	41	1	9.999943e-01	30	59	0	41	2		0	0	0	0	0	2	1	1	54	259	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELAVL1	1994	broad.mit.edu	37	19	8032510	8032510	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8032510G>A	ENST00000407627.2	-	5	724	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000596459.1_Silent_p.L199L|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1			20					GAGTGGTACAGCTGCGAGAGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000407627.2	0	1	hg19	CCDS12193.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	0	0	0	7	259	0	53	1	9.838397e-01	12	266	0	53	2		0	0	0	0	0	2	1	9.804725e-01	7	257	0	51	2								-8.073613	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.340000	0.140000	1.000000	0.300000	0.400746	0.340000	0	2.200000e-01	5.200000e-01
ELAVL1	1994	broad.mit.edu	37	19	8046064	8046064	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8046064C>A	ENST00000407627.2	-	3	308	c.179G>T	c.(178-180)aGc>aTc	p.S60I	ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60I	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1			20					ATAGCCCAAGCTGTGTCCTGT	0.527000																								0							SO:0001583	missense			ENST00000407627.2	1	1	hg19	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287602	0.95517	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.79247	-1.25;-1.25	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	H	0.96301	3.8	0.80722	D	1	D	0.61697	0.99	P	0.61477	0.889	D	0.93571	0.6904	10	0.87932	D	0	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	60	Q15717	ELAV1_HUMAN	I	60;87	ENSP00000385269:S60I;ENSP00000264073:S87I	ENSP00000264073:S87I	S	-	2	0	ELAVL1	7952064	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.225000	0.78051	2.719000	0.93026	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	0	0	0	63	252	1	69	1	9.999986e-01	48	138	1	69	11		0	0	0	0	0	2	1	1	63	247	1	67	16								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTBP1	5725	broad.mit.edu	37	19	806450	806450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:806450C>T	ENST00000349038.4	+	9	1008	c.935C>T	c.(934-936)gCc>gTc	p.A312V	PTBP1_ENST00000356948.6_Missense_Mutation_p.A338V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A331V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1			19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			GCCCCCCTGGCCATCCCCTCG	0.697000																								0							SO:0001583	missense			ENST00000349038.4	0	1	hg19	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336728	0.24253	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50548	0.74;0.79;1.13	4.29	3.25	0.37280	.	0.201845	0.41001	D	0.000969	T	0.44244	0.1284	L	0.56769	1.78	0.80722	D	1	B;B;B	0.31174	0.077;0.005;0.311	B;B;B	0.32677	0.044;0.014;0.15	T	0.43180	-0.9407	10	0.56958	D	0.05	-12.4848	11.1165	0.48264	0.0:0.9089:0.0:0.0911	.	312;331;338	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	338;331;312	ENSP00000349428:A338V;ENSP00000408096:A331V;ENSP00000014112:A312V	ENSP00000014112:A312V	A	+	2	0	PTBP1	757450	1.000000	0.71417	0.926000	0.36857	0.023000	0.10783	4.477000	0.60223	0.804000	0.34136	-0.251000	0.11542	GCC		TCGA-IB-7651-01A-11D-2154-08	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1	0	0	0	6	160	0	16	1	8.962891e-01	10	101	0	16	2		0	0	0	0	1	2	1	9.602047e-01	6	152	0	14	2								-8.469087	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.470000	0.190000	1.000000	0.420000	0.521914	0.470000	0	3.100000e-01	7.400000e-01
PTBP1	5725	broad.mit.edu	37	19	807883	807883	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:807883A>C	ENST00000349038.4	+	10	1129	c.1056A>C	c.(1054-1056)caA>caC	p.Q352H	PTBP1_ENST00000356948.6_Missense_Mutation_p.Q378H|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1			19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			TCACACCCCAAAGCCTCTTTA	0.468000																								0							SO:0001583	missense			ENST00000349038.4	1	1	hg19	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642587	0.29246	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.44083	0.93;3.32;1.23;1.49	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.246333	0.41938	D	0.000782	T	0.36853	0.0982	L	0.42487	1.325	0.54753	D	0.99998	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.13407	0.002;0.004;0.009;0.004	T	0.11690	-1.0577	10	0.31617	T	0.26	-7.9015	14.4771	0.67554	1.0:0.0:0.0:0.0	.	18;352;371;378	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	H	378;371;352;18	ENSP00000349428:Q378H;ENSP00000408096:Q371H;ENSP00000014112:Q352H;ENSP00000342332:Q18H	ENSP00000014112:Q352H	Q	+	3	2	PTBP1	758883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.419000	0.59835	2.006000	0.58801	0.528000	0.53228	CAA		TCGA-IB-7651-01A-11D-2154-08	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1	1	0	1	135	729	0	116	1	1	114	316	0	116	2		0	0	0	0	0	2	1	1	126	701	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN3	84467	broad.mit.edu	37	19	8155129	8155129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8155129C>T	ENST00000600128.1	-	49	6452	c.6038G>A	c.(6037-6039)cGg>cAg	p.R2013Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q			Q75N90	FBN3_HUMAN	fibrillin 3			132					GAAACTCTGCCGTGTGTCTGT	0.612000																								0							SO:0001583	missense			ENST00000600128.1	1	1	hg19	CCDS12196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761022|4.761022	0.89932|0.89932	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.87256	.|-2.23	4.58|4.58	3.53|3.53	0.40419|0.40419	.|Matrix fibril-associated (2);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.91885|0.91885	0.7431|0.7431	M|M	0.73217|0.73217	2.22|2.22	0.53005|0.53005	D|D	0.999969|0.999969	.|D	.|0.76494	.|0.999	.|D	.|0.72625	.|0.978	D|D	0.91842|0.91842	0.5484|0.5484	6|10	0.11794|0.62326	T|D	0.64|0.03	.|.	12.7286|12.7286	0.57185|0.57185	0.0:0.919:0.0:0.081|0.0:0.919:0.0:0.081	.|.	.|2013	.|Q75N90	.|FBN3_HUMAN	S|Q	133|2013	.|ENSP00000270509:R2013Q	ENSP00000341317:G133S|ENSP00000270509:R2013Q	G|R	-|-	1|2	0|0	FBN3|FBN3	8061129|8061129	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.945000|0.945000	0.59286|0.59286	5.547000|5.547000	0.67249|0.67249	0.908000|0.908000	0.36671|0.36671	0.561000|0.561000	0.74099|0.74099	GGC|CGG		TCGA-IB-7651-01A-11D-2154-08	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	1	42	193	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	42	186	0	44	2								-20.000000	1	1	121396	6	36	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN3	84467	broad.mit.edu	37	19	8175947	8175947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8175947C>T	ENST00000600128.1	-	33	4619	c.4205G>A	c.(4204-4206)tGc>tAc	p.C1402Y	FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y|FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y			Q75N90	FBN3_HUMAN	fibrillin 3			132					CTTACCCTGGCAGGCCCGGTG	0.667000																								0							SO:0001583	missense			ENST00000600128.1	1	1	hg19	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770983	0.49680	.	.	ENSG00000142449	ENST00000270509	D	0.99445	-5.91	3.67	3.67	0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99654	0.9872	H	0.95745	3.715	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97366	0.9973	10	0.87932	D	0	.	15.7061	0.77583	0.0:1.0:0.0:0.0	.	1402	Q75N90	FBN3_HUMAN	Y	1402	ENSP00000270509:C1402Y	ENSP00000270509:C1402Y	C	-	2	0	FBN3	8081947	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	7.091000	0.76923	1.758000	0.51981	0.462000	0.41574	TGC		TCGA-IB-7651-01A-11D-2154-08	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	1	36	211	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	34	205	0	52	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
FBN3	84467	broad.mit.edu	37	19	8203051	8203051	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8203051C>A	ENST00000600128.1	-	10	1589	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	FBN3_ENST00000601739.1_Missense_Mutation_p.S392I|FBN3_ENST00000270509.2_Missense_Mutation_p.S392I			Q75N90	FBN3_HUMAN	fibrillin 3			132					AGGGCCCAGGCTGGGGATCCC	0.612000																								0							SO:0001583	missense			ENST00000600128.1	1	1	hg19	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	9.180	1.023304	0.19433	.	.	ENSG00000142449	ENST00000270509	D	0.87334	-2.24	4.45	3.41	0.39046	.	0.731136	0.12732	U	0.443799	T	0.75228	0.3821	N	0.14661	0.345	0.20873	N	0.999833	B	0.26002	0.139	B	0.24541	0.054	T	0.61207	-0.7109	10	0.26408	T	0.33	.	9.4563	0.38756	0.0:0.898:0.0:0.102	.	392	Q75N90	FBN3_HUMAN	I	392	ENSP00000270509:S392I	ENSP00000270509:S392I	S	-	2	0	FBN3	8109051	0.966000	0.33281	0.952000	0.39060	0.717000	0.41224	0.760000	0.26475	0.864000	0.35578	-0.350000	0.07774	AGC		TCGA-IB-7651-01A-11D-2154-08	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	0	7	111	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.792288e-01	7	107	0	31	2								-10.906110	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.750000	0.330000	1.000000	1.000000	0.752056	0.750000	0	5.100000e-01	1
FBN3	84467	broad.mit.edu	37	19	8209804	8209804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8209804G>A	ENST00000600128.1	-	6	912	c.498C>T	c.(496-498)cgC>cgT	p.R166R	FBN3_ENST00000601739.1_Silent_p.R166R|FBN3_ENST00000270509.2_Silent_p.R166R			Q75N90	FBN3_HUMAN	fibrillin 3			132					CACAGGCGCAGCGGTTGGGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000600128.1	1	1	hg19	CCDS12196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	1	0	1	17	61	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999820e-01	17	60	0	15	2								-20.000000	1	1	121282	1	21	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999955	0.990000	1	9.900000e-01	1
AZU1	566	broad.mit.edu	37	19	828350	828350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:828350G>A	ENST00000233997.2	+	2	200	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1			10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			ATCCATGCCCGCTTCGTGATG	0.667000																								0							SO:0001583	missense			ENST00000233997.2	1	1	hg19	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134797	0.37728	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.89050	-2.46	2.4	-1.21	0.09524	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89417	0.6709	M	0.82923	2.615	0.09310	N	1	D	0.56521	0.976	P	0.51229	0.663	T	0.80141	-0.1506	9	0.66056	D	0.02	.	2.6299	0.04941	0.3483:0.2644:0.3873:0.0	.	60	P20160	CAP7_HUMAN	H	74;60	ENSP00000233997:R60H	ENSP00000233997:R60H	R	+	2	0	AZU1	779350	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.409000	0.07160	-0.061000	0.13110	0.511000	0.50034	CGC		TCGA-IB-7651-01A-11D-2154-08	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	1	0	0	151	476	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	149	468	0	79	2								-2.923319	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD320	51293	broad.mit.edu	37	19	8367489	8367489	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8367489G>A	ENST00000301458.5	-	5	771	c.707C>T	c.(706-708)gCg>gTg	p.A236V	CD320_ENST00000537716.2_Splice_Site_p.A194V	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule			6					ACTGAGCACCGCTGTGGGGAA	0.622000																								0							SO:0001630	splice_region_variant			ENST00000301458.5	1	0	hg19	CCDS12198.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362724	0.11296	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96856	-3.14;-4.15	4.04	-8.08	0.01094	.	1.298340	0.05497	N	0.557812	D	0.87581	0.6213	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.06405	0.002;0.001	T	0.80025	-0.1555	10	0.13853	T	0.58	.	10.0455	0.42184	0.2222:0.1237:0.6542:0.0	.	194;236	F5H6D3;Q9NPF0	.;CD320_HUMAN	V	236;194	ENSP00000301458:A236V;ENSP00000437697:A194V	ENSP00000301458:A236V	A	-	2	0	CD320	8273489	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.128000	0.03247	-1.940000	0.01043	-1.127000	0.01993	GCG		TCGA-IB-7651-01A-11D-2154-08	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	1	0	1	62	250	0	70	1	1	24	164	0	70	2		0	0	0	0	0	2	1	1	60	243	0	70	2								-20.000000	1	1	121408	1	34	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFA7	4701	broad.mit.edu	37	19	8381461	8381461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8381461C>T	ENST00000301457.2	-	3	207	c.170G>A	c.(169-171)cGc>cAc	p.R57H	NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa			5					GCGGCCATCGCGAGTGCAATA	0.567000																								0							SO:0001583	missense			ENST00000301457.2	1	1	hg19	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201926	0.58234	.	.	ENSG00000167774	ENST00000301457	T	0.64803	-0.12	5.74	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.76002	2.32	0.37902	D	0.931084	P	0.39624	0.681	B	0.36030	0.216	T	0.70371	-0.4890	10	0.59425	D	0.04	-14.0334	13.361	0.60657	0.0:0.9236:0.0:0.0764	.	57	O95182	NDUA7_HUMAN	H	57	ENSP00000301457:R57H	ENSP00000301457:R57H	R	-	2	0	NDUFA7	8287461	1.000000	0.71417	0.121000	0.21740	0.555000	0.35460	7.429000	0.80309	1.424000	0.47217	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	1	0	1	95	412	0	77	1	1	277	493	0	77	2		0	0	0	0	0	2	1	1	91	405	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPS28	6234	broad.mit.edu	37	19	8386871	8386871	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8386871C>A	ENST00000600659.2	+	3	153	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28								ACGAGCCGATCCATCATCCGC	0.642000																								0							SO:0001583	missense			ENST00000600659.2	0	1	hg19	CCDS45953.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794032	0.70452	.	.	ENSG00000233927	ENST00000417088	.	.	.	5.22	5.22	0.72569	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	B	0.30686	0.29	B	0.36244	0.22	T	0.51260	-0.8728	7	0.23302	T	0.38	.	17.5181	0.87780	0.0:1.0:0.0:0.0	.	41	P62857	RS28_HUMAN	Y	41	.	ENSP00000397872:S41Y	S	+	2	0	RPS28	8292871	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.649000	0.74364	2.720000	0.93068	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	1	0	1	12	65	0	17	1	1	1424	3368	0	17	2		0	0	0	0	0	2	1	9.954931e-01	10	44	0	14	2								-19.977660	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.997346	0.990000	1	9.900000e-01	1
MARCH2	51257	broad.mit.edu	37	19	8486755	8486755	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8486755G>T	ENST00000602117.1	+	2	486	c.31G>T	c.(31-33)Ggc>Tgc	p.G11C	MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase			10					CCACCTCCCCGGCTCCCTGTG	0.672000																								0							SO:0001583	missense			ENST00000602117.1	1	1	hg19	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977229	0.92982	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.15952	2.38;2.38;2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12142	-1.0559	10	0.62326	D	0.03	-35.6497	18.284	0.90108	0.0:0.0:1.0:0.0	.	11;11	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	C	11	ENSP00000377518:G11C;ENSP00000215555:G11C;ENSP00000370423:G11C	ENSP00000215555:G11C	G	+	1	0	MARCH2	8392755	1.000000	0.71417	0.962000	0.40283	0.921000	0.55340	7.633000	0.83260	2.660000	0.90430	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	1	0	1	59	334	0	70	1	1	34	139	0	70	2		0	0	0	0	0	2	1	1	58	324	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARCH2	51257	broad.mit.edu	37	19	8495681	8495681	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8495681G>A	ENST00000602117.1	+	4	967	c.512G>A	c.(511-513)aGc>aAc	p.S171N	MARCH2_ENST00000381035.4_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase			10					CGGCTCCACAGCCAGCTGGAG	0.637000																								0							SO:0001583	missense			ENST00000602117.1	1	1	hg19	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988397	0.53934	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.18960	2.18;2.18	4.26	4.26	0.50523	.	0.204126	0.49305	D	0.000147	T	0.27559	0.0677	M	0.68952	2.095	0.80722	D	1	D	0.53151	0.958	P	0.45343	0.477	T	0.07366	-1.0776	10	0.22706	T	0.39	-29.9527	15.7466	0.77949	0.0:0.0:1.0:0.0	.	171	Q9P0N8	MARH2_HUMAN	N	171	ENSP00000377518:S171N;ENSP00000215555:S171N	ENSP00000215555:S171N	S	+	2	0	MARCH2	8401681	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.745000	0.85046	2.364000	0.80123	0.448000	0.29417	AGC		TCGA-IB-7651-01A-11D-2154-08	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	1	0	1	42	203	0	31	1	1	45	193	0	31	2		0	0	0	0	0	2	1	1	41	199	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPM	4670	broad.mit.edu	37	19	8528515	8528515	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8528515C>A	ENST00000325495.4	+	5	424	c.383C>A	c.(382-384)gCt>gAt	p.A128D	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A128D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M			25					ATGAAAAAAGCTGCGGAAGTC	0.413000																								0							SO:0001583	missense			ENST00000325495.4	1	1	hg19	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248285	0.80024	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	D;T	0.88354	-2.37;1.16	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.97090	0.9790	10	0.87932	D	0	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	128;128;128;28	P52272;P52272-2;B4DEG4;Q59ES8	HNRPM_HUMAN;.;.;.	D	128;128;28	ENSP00000325376:A128D;ENSP00000325732:A128D	ENSP00000325376:A128D	A	+	2	0	HNRNPM	8434515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	1	74	281	0	49	1	1	294	601	0	49	2		0	0	0	0	0	2	1	1	73	275	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPM	4670	broad.mit.edu	37	19	8548057	8548057	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8548057C>T	ENST00000325495.4	+	13	1177	c.1136C>T	c.(1135-1137)gCa>gTa	p.A379V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A340V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M			25					CTAAGTAATGCACTGAAGAGA	0.388000																								0							SO:0001583	missense			ENST00000325495.4	1	1	hg19	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528391	0.44969	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.14893	2.47;2.77	4.54	4.54	0.55810	.	0.531586	0.20813	N	0.085208	T	0.14527	0.0351	L	0.34521	1.04	0.39913	D	0.974059	B;B;B;B	0.21905	0.062;0.018;0.034;0.008	B;B;B;B	0.21708	0.036;0.011;0.036;0.011	T	0.04281	-1.0963	10	0.40728	T	0.16	.	13.1032	0.59233	0.0:1.0:0.0:0.0	.	219;379;340;264	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	379;340;264	ENSP00000325376:A379V;ENSP00000325732:A340V	ENSP00000325376:A379V	A	+	2	0	HNRNPM	8454057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.018000	0.49625	2.822000	0.97130	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	1	40	290	0	77	1	1	101	335	0	77	2		0	0	0	0	0	2	1	1	40	289	0	77	2								-16.726530	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999443	0.990000	1	9.900000e-01	1
HNRNPM	4670	broad.mit.edu	37	19	8550883	8550883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550883G>A	ENST00000325495.4	+	14	1612	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R485H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	p.R524H(1)		25					GCCATCGAGCGCATGGGCCTG	0.697000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000325495.4	1	1	hg19	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889696	0.72524	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.48522	0.81;1.14	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.70595	2.14	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.991;0.999;1.0	D;P;D;D	0.85130	0.987;0.511;0.937;0.997	T	0.71912	-0.4449	10	0.72032	D	0.01	.	17.8127	0.88620	0.0:0.0:1.0:0.0	.	364;524;485;409	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	524;485;409;81	ENSP00000325376:R524H;ENSP00000325732:R485H	ENSP00000325376:R524H	R	+	2	0	HNRNPM	8456883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.156000	0.77453	2.537000	0.85549	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	1	113	473	0	105	1	1	107	197	0	105	2		0	0	0	0	0	2	1	1	110	467	0	101	2								-3.503817	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPM	4670	broad.mit.edu	37	19	8550903	8550903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550903C>T	ENST00000325495.4	+	14	1632	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R492C	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M			25					GAGCATGGAGCGCATGGTGCC	0.687000																								0							SO:0001583	missense			ENST00000325495.4	1	1	hg19	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846507	0.51164	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.27720	1.78;1.65	5.62	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.38953	1.18	0.80722	D	1	B;B;B;B	0.20671	0.014;0.006;0.004;0.047	B;B;B;B	0.09377	0.002;0.001;0.001;0.004	T	0.05209	-1.0899	10	0.87932	D	0	.	14.4855	0.67614	0.1483:0.8517:0.0:0.0	.	371;531;492;416	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	C	531;492;416;88	ENSP00000325376:R531C;ENSP00000325732:R492C	ENSP00000325376:R531C	R	+	1	0	HNRNPM	8456903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.450000	0.66626	1.333000	0.45449	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	1	100	476	0	101	1	1	108	222	0	101	2		0	0	0	0	0	2	1	1	100	471	0	99	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPM	4670	broad.mit.edu	37	19	8551214	8551214	+	Silent	SNP	C	C	T	rs143994714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8551214C>T	ENST00000325495.4	+	14	1943	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	HNRNPM_ENST00000348943.3_Silent_p.F595F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M			25					GAGGAAGCTTCGCAGGTTCCT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000325495.4	1	1	hg19	CCDS12203.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1	1	0	0	34	309	0	40	1	1	55	380	0	40	2		0	0	0	0	0	2	1	1	34	305	0	40	2								-20.000000	1	1	120784	11	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.840000	1.000000	1.000000	0.987241	0.990000	1	9.900000e-01	1
ZNF414	84330	broad.mit.edu	37	19	8578036	8578036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8578036G>A	ENST00000255616.8	-	2	294	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ZNF414_ENST00000393927.4_Nonsense_Mutation_p.Q65*	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414			2					GAGCCCTGCTGCATCCCTCCA	0.706000																								0							SO:0001587	stop_gained			ENST00000255616.8	0	1	hg19	CCDS12205.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424835	0.62733	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	.	.	.	4.13	3.09	0.35607	.	0.000000	0.33438	N	0.004910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.8746	7.6881	0.28552	0.117:0.0:0.883:0.0	.	.	.	.	X	65	.	ENSP00000255616:Q65X	Q	-	1	0	ZNF414	8484036	0.964000	0.33143	0.366000	0.25914	0.319000	0.28217	2.193000	0.42658	1.079000	0.41038	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	0	0	1	5	23	0	11	1	9.966262e-01	4	60	0	11	2		0	0	0	0	0	2	1	9.437892e-01	5	23	0	11	2								-12.400660	1	1	114290	1	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.750000	1.000000	1.000000	0.984301	0.990000	1	9.900000e-01	1
MYO1F	4542	broad.mit.edu	37	19	8595095	8595095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8595095G>A	ENST00000338257.8	-	21	2580	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF			42					AGCGGCGGTCGTACTTGGTGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000338257.8	1	1	hg19	CCDS42494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	1	0	1	156	666	0	135	0	9.999661e-01	0	64	0	135	2		0	0	0	0	0	2	1	1	154	653	0	133	2								-3.496534	1	1	121144	44	50	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1F	4542	broad.mit.edu	37	19	8612995	8612995	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8612995G>A	ENST00000338257.8	-	12	1461	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	AC092316.1_ENST00000598703.1_RNA|AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	p.F398F(1)		42					AAAACTGCTCGAAGCCATTTT	0.542000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000338257.8	1	1	hg19	CCDS42494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	1	0	0	193	884	0	170	0	9.999676e-01	1	67	0	170	2		0	0	0	0	0	2	1	1	189	866	0	168	2								-3.241786	1	1	120882	2	38	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1F	4542	broad.mit.edu	37	19	8619390	8619390	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8619390G>A	ENST00000338257.8	-	4	564	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF			42					TCTCACAGTCGATAAGCATGT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000338257.8	1	1	hg19	CCDS42494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	0	0	1	133	571	1	123	0	9.995993e-01	0	72	1	123	4		0	0	0	0	0	2	1	1	132	563	1	122	19								-20.000000	1	1	120998	3	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTL9	284382	broad.mit.edu	37	19	8808336	8808336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808336G>A	ENST00000324436.3	-	1	836	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					GGGCAGGCCGGCCTGGAGCAG	0.657000																								0							SO:0001583	missense			ENST00000324436.3	1	1	hg19	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110203	0.20714	.	.	ENSG00000181786	ENST00000324436	D	0.94417	-3.42	4.77	4.77	0.60923	.	0.832480	0.09655	U	0.773177	D	0.91123	0.7205	L	0.42744	1.35	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.82476	-0.0438	10	0.87932	D	0	.	7.3774	0.26835	0.1773:0.0:0.8227:0.0	.	239	Q8TC94	ACTL9_HUMAN	V	239	ENSP00000316674:A239V	ENSP00000316674:A239V	A	-	2	0	ACTL9	8669336	0.001000	0.12720	0.029000	0.17559	0.010000	0.07245	1.389000	0.34453	2.649000	0.89929	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1	54	231	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	54	229	0	49	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTL9	284382	broad.mit.edu	37	19	8808354	8808354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808354G>A	ENST00000324436.3	-	1	818	c.698C>T	c.(697-699)gCg>gTg	p.A233V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					CAGCATCTCCGCCAGGAAGGC	0.642000																								0							SO:0001583	missense			ENST00000324436.3	1	1	hg19	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	9.926	1.213504	0.22289	0.0	1.16E-4	ENSG00000181786	ENST00000324436	T	0.08282	3.11	4.55	2.42	0.29668	.	0.160511	0.29126	N	0.013065	T	0.06096	0.0158	L	0.33624	1.015	0.25170	N	0.990285	B	0.24721	0.11	B	0.24269	0.052	T	0.29549	-1.0008	10	0.72032	D	0.01	.	4.2869	0.10858	0.1871:0.0:0.6302:0.1827	.	233	Q8TC94	ACTL9_HUMAN	V	233	ENSP00000316674:A233V	ENSP00000316674:A233V	A	-	2	0	ACTL9	8669354	0.988000	0.35896	0.619000	0.29118	0.075000	0.17131	3.158000	0.50723	0.676000	0.31285	-0.358000	0.07595	GCG		TCGA-IB-7651-01A-11D-2154-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1	61	222	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	61	221	0	46	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTL9	284382	broad.mit.edu	37	19	8808399	8808399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808399G>A	ENST00000324436.3	-	1	773	c.653C>T	c.(652-654)aCg>aTg	p.T218M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					CAGACGCTCCGTGGCGTGGAG	0.682000																								0							SO:0001583	missense			ENST00000324436.3	0	1	hg19	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173331	0.38413	.	.	ENSG00000181786	ENST00000324436	D	0.94650	-3.48	4.55	3.32	0.38043	.	0.481200	0.17329	N	0.178213	D	0.93177	0.7827	L	0.54965	1.715	0.25461	N	0.987911	D	0.60575	0.988	P	0.50934	0.654	D	0.86983	0.2105	10	0.87932	D	0	.	6.5417	0.22385	0.2932:0.0:0.7068:0.0	.	218	Q8TC94	ACTL9_HUMAN	M	218	ENSP00000316674:T218M	ENSP00000316674:T218M	T	-	2	0	ACTL9	8669399	0.463000	0.25799	0.842000	0.33263	0.863000	0.49368	1.042000	0.30303	0.920000	0.36970	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	0	0	0	7	334	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	9.804711e-01	7	332	0	53	2								-7.409843	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.260000	0.110000	1.000000	0.240000	0.331782	0.260000	0	1.700000e-01	4.100000e-01
ACTL9	284382	broad.mit.edu	37	19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	rs139329295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808430C>T	ENST00000324436.3	-	1	742	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					CCCTGGAAGACGGGCACTGTG	0.667000																								0							SO:0001583	missense			ENST00000324436.3	1	1	hg19	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253424	0.22965	.	.	ENSG00000181786	ENST00000324436	D	0.95622	-3.76	4.34	4.34	0.51931	.	0.000000	0.41500	D	0.000878	D	0.87281	0.6138	L	0.28192	0.835	0.30637	N	0.756871	P	0.39131	0.661	B	0.32762	0.152	T	0.83212	-0.0073	10	0.02654	T	1	.	9.7105	0.40243	0.0:0.9027:0.0:0.0973	.	208	Q8TC94	ACTL9_HUMAN	I	208	ENSP00000316674:V208I	ENSP00000316674:V208I	V	-	1	0	ACTL9	8669430	0.788000	0.28762	0.972000	0.41901	0.959000	0.62525	1.294000	0.33365	2.420000	0.82092	0.462000	0.41574	GTC		TCGA-IB-7651-01A-11D-2154-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1	64	265	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	64	264	0	53	2								-20.000000	1	0	121368	2	37	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTL9	284382	broad.mit.edu	37	19	8808659	8808659	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808659G>A	ENST00000324436.3	-	1	513	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					GCTCCAGCAGGTGGCGCCAGA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000324436.3	1	1	hg19	CCDS12207.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1	72	288	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	71	282	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2Z1	284383	broad.mit.edu	37	19	8841503	8841503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841503G>A	ENST00000324060.2	+	1	188	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1			18					TTTGTCATAGGCCTTCTGGGC	0.542000																								0							SO:0001583	missense			ENST00000324060.2	1	1	hg19	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974594	0.53720	.	.	ENSG00000181733	ENST00000324060	T	0.01092	5.35	4.33	3.16	0.36331	.	0.369647	0.22845	N	0.054923	T	0.02380	0.0073	L	0.52905	1.665	0.09310	N	1	P	0.50617	0.937	P	0.49561	0.615	T	0.38308	-0.9667	10	0.87932	D	0	.	10.1776	0.42948	0.0:0.3736:0.6264:0.0	.	38	Q8NG97	OR2Z1_HUMAN	D	38	ENSP00000316284:G38D	ENSP00000316284:G38D	G	+	2	0	OR2Z1	8702503	0.263000	0.24083	0.040000	0.18447	0.014000	0.08584	1.834000	0.39171	2.182000	0.69389	0.543000	0.68304	GGC		TCGA-IB-7651-01A-11D-2154-08	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1	1	0	0	21	421	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	9.999969e-01	21	409	0	78	2								-19.985780	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.580000	0.360000	1.000000	0.560000	0.615490	0.580000	0	4.600000e-01	7.500000e-01
OR2Z1	284383	broad.mit.edu	37	19	8842076	8842076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8842076G>A	ENST00000324060.2	+	1	761	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1			18					CTAAGCATGCGCTCAGAGGAG	0.587000																								0							SO:0001583	missense			ENST00000324060.2	1	1	hg19	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813852	0.02798	.	.	ENSG00000181733	ENST00000324060	T	0.39229	1.09	4.67	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.737439	0.12441	N	0.468674	T	0.13329	0.0323	N	0.02225	-0.63	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.30327	-0.9982	10	0.15499	T	0.54	.	4.9972	0.14245	0.5627:0.1712:0.2661:0.0	.	229	Q8NG97	OR2Z1_HUMAN	H	229	ENSP00000316284:R229H	ENSP00000316284:R229H	R	+	2	0	OR2Z1	8703076	0.000000	0.05858	0.847000	0.33407	0.021000	0.10359	-0.920000	0.04013	-0.100000	0.12241	-0.287000	0.09952	CGC		TCGA-IB-7651-01A-11D-2154-08	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1	1	0	1	70	294	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	69	294	0	81	2								-3.426880	1	1	121412	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF558	148156	broad.mit.edu	37	19	8931980	8931980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8931980G>A	ENST00000601372.1	-	7	834	c.123C>T	c.(121-123)ggC>ggT	p.G41G	CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Silent_p.G41G			Q96NG5	ZN558_HUMAN	zinc finger protein 558			15					AGGTTACCAAGCCCTAAAGCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000601372.1	1	1	hg19	CCDS12208.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	1	0	1	100	370	0	121	1	9.999887e-01	22	41	0	121	2		0	0	0	0	0	2	1	1	95	364	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBD3L1	85509	broad.mit.edu	37	19	8953519	8953519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8953519G>T	ENST00000595891.1	+	3	396	c.165G>T	c.(163-165)tgG>tgT	p.W55C	MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1			12					ACCATCAATGGGAGGAGAGCT	0.512000																								0							SO:0001583	missense			ENST00000595891.1	1	1	hg19	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387116	0.42308	.	.	ENSG00000170948	ENST00000305625	T	0.42900	0.96	3.92	3.92	0.45320	.	0.000000	0.30850	N	0.008744	T	0.56352	0.1979	M	0.65975	2.015	0.48341	D	0.999633	D	0.76494	0.999	P	0.61800	0.894	T	0.58399	-0.7643	10	0.54805	T	0.06	-13.1406	11.7393	0.51784	0.0:0.0:1.0:0.0	.	55	Q8WWY6	MB3L1_HUMAN	C	55	ENSP00000304198:W55C	ENSP00000304198:W55C	W	+	3	0	MBD3L1	8814519	1.000000	0.71417	0.958000	0.39756	0.543000	0.35085	3.640000	0.54350	2.459000	0.83118	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	1	0	1	69	313	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	63	310	0	70	2								-2.929333	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	8973992	8973992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8973992G>T	ENST00000397910.4	-	76	42882	c.42679C>A	c.(42679-42681)Ctg>Atg	p.L14227M	MUC16_ENST00000380951.5_Missense_Mutation_p.L868M|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					ATGTCCCTCAGCAGGGTGATG	0.502000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.859|8.859	0.946373|0.946373	0.18356|0.18356	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32988	.|1.43;1.43	4.57|4.57	0.89|0.89	0.19218|0.19218	.|SEA (1);	.|1.613830	.|0.04579	.|N	.|0.394628	.|T	.|0.57533	.|0.2060	M|M	0.85542|0.85542	2.76|2.76	.|.	.|.	.|.	.|B;D	.|0.58970	.|0.245;0.984	.|B;D	.|0.73708	.|0.126;0.981	.|T	.|0.40403	.|-0.9565	.|9	.|0.34782	.|T	.|0.22	.|.	7.68|7.68	0.28507|0.28507	0.0:0.3544:0.4759:0.1697|0.0:0.3544:0.4759:0.1697	.|.	.|21872;14227	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	X|M	1049|14227;868	.|ENSP00000381008:L14227M;ENSP00000370338:L868M	.|ENSP00000370338:L868M	C|L	-|-	3|1	2|2	MUC16|MUC16	8834992|8834992	0.000000|0.000000	0.05858|0.05858	0.272000|0.272000	0.24630|0.24630	0.054000|0.054000	0.15201|0.15201	-0.019000|-0.019000	0.12546|0.12546	0.190000|0.190000	0.20209|0.20209	0.609000|0.609000	0.83330|0.83330	TGC|CTG		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	15	58	0	13	1	9.999825e-01	12	73	0	13	2		0	0	0	0	0	2	1	9.999236e-01	15	57	0	12	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999845	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	8974076	8974076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8974076G>A	ENST00000397910.4	-	76	42798	c.42595C>T	c.(42595-42597)Cgg>Tgg	p.R14199W	MUC16_ENST00000380951.5_Missense_Mutation_p.R840W|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TACTCGCCCCGGATTGATAAA	0.478000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.771491	0.31320	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.01981	4.52	4.64	-3.0	0.05480	.	2.408930	0.02423	N	0.082720	T	0.04861	0.0131	M	0.78637	2.42	.	.	.	B;P	0.41643	0.002;0.758	B;B	0.38954	0.002;0.286	T	0.47522	-0.9111	9	0.51188	T	0.08	.	8.8916	0.35437	0.5282:0.0:0.4718:0.0	.	21844;14199	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14199;840	ENSP00000381008:R14199W	ENSP00000370338:R840W	R	-	1	2	MUC16	8835076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.189000	0.17037	-0.452000	0.07087	-0.766000	0.03442	CGG		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	10	68	0	26	1	9.975151e-01	13	65	0	26	2		0	0	0	0	0	2	1	9.971549e-01	10	66	0	26	2								-7.931931	1	0	120846	1	20	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.800000	1.000000	1.000000	0.987164	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	8982221	8982221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8982221C>A	ENST00000397910.4	-	70	42257	c.42054G>T	c.(42052-42054)caG>caT	p.Q14018H	MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					CATGGGTCTGCTGGCTCAGCT	0.622000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.472|8.472	0.857870|0.857870	0.17178|0.17178	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.47869|.	0.83;0.83|.	3.89|3.89	1.58|1.58	0.23477|0.23477	SEA (1);|.	2.222600|.	0.02344|.	N|.	0.075212|.	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.41415|0.41415	1.275|1.275	.|.	.|.	.|.	B;D|.	0.53312|.	0.016;0.959|.	B;D|.	0.67725|.	0.006;0.953|.	T|T	0.37033|0.37033	-0.9723|-0.9723	9|4	0.37606|.	T|.	0.19|.	.|.	3.9472|3.9472	0.09353|0.09353	0.226:0.6371:0.0:0.1369|0.226:0.6371:0.0:0.1369	.|.	21663;14018|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	H|I	14018;659|858	ENSP00000381008:Q14018H;ENSP00000370338:Q659H|.	ENSP00000370338:Q659H|.	Q|S	-|-	3|2	2|0	MUC16|MUC16	8843221|8843221	0.243000|0.243000	0.23878|0.23878	0.635000|0.635000	0.29338|0.29338	0.009000|0.009000	0.06853|0.06853	0.278000|0.278000	0.18753|0.18753	0.510000|0.510000	0.28216|0.28216	-0.291000|-0.291000	0.09656|0.09656	CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	17	226	0	37	1	9.490254e-01	8	61	0	37	2		0	0	0	0	0	2	1	9.999659e-01	17	222	0	37	2								-19.966110	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.850000	0.510000	1.000000	1.000000	0.841046	0.850000	1	6.600000e-01	1
MUC16	94025	broad.mit.edu	37	19	8995635	8995635	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8995635C>T	ENST00000397910.4	-	63	41556	c.41353G>A	c.(41353-41355)Gct>Act	p.A13785T	MUC16_ENST00000380951.5_Splice_Site_p.A426T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TGGTACTTACCTGAAGGGCCA	0.438000																								0							SO:0001630	splice_region_variant			ENST00000397910.4	1	0	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322407	0.23994	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.37058	1.22;1.22	1.27	1.27	0.21489	.	.	.	.	.	T	0.34600	0.0903	N	0.16368	0.405	.	.	.	D;P	0.57571	0.98;0.954	P;D	0.66351	0.892;0.943	T	0.38351	-0.9665	7	.	.	.	.	5.9958	0.19493	0.0:1.0:0.0:0.0	.	21430;13785	Q8WXI7;B5ME49	MUC16_HUMAN;.	T	13785;426	ENSP00000381008:A13785T;ENSP00000370338:A426T	.	A	-	1	0	MUC16	8856635	0.138000	0.22547	0.012000	0.15200	0.019000	0.09904	0.967000	0.29344	1.038000	0.40049	0.436000	0.28706	GCT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	15	61	0	32	1	9.995363e-01	17	42	0	32	2		0	0	0	0	0	2	1	9.999216e-01	15	60	0	32	2								-3.640086	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999795	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	8997154	8997154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8997154C>T	ENST00000397910.4	-	60	41245	c.41042G>A	c.(41041-41043)gGc>gAc	p.G13681D	MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GTACAGAGGGCCAACACTGGT	0.562000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.24|13.24	2.178015|2.178015	0.38511|0.38511	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.39592	.|1.07;1.07	2.76|2.76	1.68|1.68	0.24146|0.24146	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.64091|0.64091	0.2567|0.2567	M|M	0.88105|0.88105	2.93|2.93	.|.	.|.	.|.	.|D;D	.|0.89917	.|0.997;1.0	.|P;D	.|0.85130	.|0.874;0.997	T|T	0.69383|0.69383	-0.5160|-0.5160	4|8	.|0.54805	.|T	.|0.06	-12.8308|-12.8308	6.5941|6.5941	0.22664|0.22664	0.3266:0.6734:0.0:0.0|0.3266:0.6734:0.0:0.0	.|.	.|21326;13681	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|D	521|13681;322	.|ENSP00000381008:G13681D;ENSP00000370338:G322D	.|ENSP00000370338:G322D	A|G	-|-	1|2	0|0	MUC16|MUC16	8858154|8858154	0.073000|0.073000	0.21202|0.21202	0.002000|0.002000	0.10522|0.10522	0.098000|0.098000	0.18820|0.18820	1.582000|1.582000	0.36568|0.36568	0.661000|0.661000	0.30985|0.30985	0.400000|0.400000	0.26472|0.26472	GCC|GGC		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1	63	287	0	88	1	9.997748e-01	36	23	0	88	2		0	0	0	0	0	2	1	1	59	274	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	8999547	8999547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8999547G>A	ENST00000397910.4	-	56	40831	c.40628C>T	c.(40627-40629)gCa>gTa	p.A13543V	MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TTTGGTGGCTGCCCCATCCTT	0.597000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.55|12.55	1.972987|1.972987	0.34848|0.34848	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.44881|.	0.91;0.91|.	3.48|3.48	-3.76|-3.76	0.04359|0.04359	SEA (2);|.	.|.	.|.	.|.	.|.	T|.	0.40670|.	0.1126|.	L|L	0.49126|0.49126	1.545|1.545	.|.	.|.	.|.	P;D|.	0.55385|.	0.901;0.971|.	P;D|.	0.68192|.	0.456;0.956|.	T|.	0.50127|.	-0.8864|.	8|.	0.46703|.	T|.	0.11|.	0.184|0.184	6.1059|6.1059	0.20073|0.20073	0.1102:0.0:0.2301:0.6598|0.1102:0.0:0.2301:0.6598	.|.	21188;13543|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	V|X	13543;184|383	ENSP00000381008:A13543V;ENSP00000370338:A184V|.	ENSP00000370338:A184V|.	A|Q	-|-	2|1	0|0	MUC16|MUC16	8860547|8860547	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	-0.010000|-0.010000	0.12743|0.12743	-0.401000|-0.401000	0.07644|0.07644	-0.320000|-0.320000	0.08662|0.08662	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1	103	435	1	108	1	9.942473e-01	17	28	1	108	3		0	0	0	0	0	2	1	1	102	305	1	86	16								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9000566	9000566	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9000566G>A	ENST00000397910.4	-	54	40621	c.40418C>T	c.(40417-40419)aCc>aTc	p.T13473I	MUC16_ENST00000380951.5_Splice_Site_p.T114I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					AGGGCTGGCGGCTATAGTGAA	0.393000																								0							SO:0001630	splice_region_variant			ENST00000397910.4	1	0	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.513|7.513	0.655018|0.655018	0.14580|0.14580	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32515	.|1.45;1.96	2.84|2.84	1.78|1.78	0.24846|0.24846	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.03608|0.03608	-0.345|-0.345	.|.	.|.	.|.	.|B;D	.|0.60575	.|0.012;0.988	.|B;D	.|0.71656	.|0.001;0.974	T|T	0.28964|0.28964	-1.0027|-1.0027	4|8	.|0.54805	.|T	.|0.06	.|.	5.6625|5.6625	0.17676|0.17676	0.1621:0.0:0.8379:0.0|0.1621:0.0:0.8379:0.0	.|.	.|21118;13473	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	313|13473;114	.|ENSP00000381008:T13473I;ENSP00000370338:T114I	.|ENSP00000370338:T114I	P|T	-|-	1|2	0|0	MUC16|MUC16	8861566|8861566	0.100000|0.100000	0.21855|0.21855	0.019000|0.019000	0.16419|0.16419	0.008000|0.008000	0.06430|0.06430	0.170000|0.170000	0.16663|0.16663	0.535000|0.535000	0.28714|0.28714	0.281000|0.281000	0.19383|0.19383	CCG|ACC		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	59	240	0	75	1	9.608347e-01	4	20	0	75	2		0	0	0	0	0	2	1	1	57	232	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9002161	9002161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9002161G>A	ENST00000397910.4	-	52	40546	c.40343C>T	c.(40342-40344)aCc>aTc	p.T13448I	MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					ACTTCTGGTGGTCGTCATAGA	0.498000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.235|3.235	-0.156656|-0.156656	0.06544|0.06544	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.33654	.|1.4;1.4	1.38|1.38	-2.76|-2.76	0.05896|0.05896	.|.	.|.	.|.	.|.	.|.	T|T	0.42585|0.42585	0.1209|0.1209	L|L	0.48642|0.48642	1.525|1.525	.|.	.|.	.|.	.|B;D	.|0.61697	.|0.001;0.99	.|B;D	.|0.74348	.|0.0;0.983	T|T	0.44787|0.44787	-0.9305|-0.9305	4|8	.|0.40728	.|T	.|0.16	.|.	3.7638|3.7638	0.08615|0.08615	0.3283:0.3967:0.275:0.0|0.3283:0.3967:0.275:0.0	.|.	.|21093;13448	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	288|13448;89	.|ENSP00000381008:T13448I;ENSP00000370338:T89I	.|ENSP00000370338:T89I	P|T	-|-	1|2	0|0	MUC16|MUC16	8863161|8863161	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.122000|0.122000	0.20287|0.20287	-2.921000|-2.921000	0.00693|0.00693	-1.763000|-1.763000	0.01307|0.01307	0.274000|0.274000	0.19336|0.19336	CCA|ACC		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	12	96	0	27	1	9.764272e-01	5	49	0	27	2		0	0	0	0	0	2	1	9.992584e-01	12	95	0	27	2								-19.051960	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.740000	1.000000	1.000000	0.978961	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9015664	9015664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9015664C>T	ENST00000397910.4	-	29	38362	c.38159G>A	c.(38158-38160)gGc>gAc	p.G12720D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					CTTCCTGGAGCCAGGGCAATG	0.547000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	11.83	1.754823	0.31046	.	.	ENSG00000181143	ENST00000397910	T	0.62941	-0.01	3.44	2.36	0.29203	.	.	.	.	.	T	0.74458	0.3719	M	0.73430	2.235	.	.	.	D	0.76494	0.999	D	0.91635	0.999	T	0.78947	-0.2003	8	0.87932	D	0	.	7.2608	0.26201	0.0:0.8579:0.0:0.1421	.	12720	B5ME49	.	D	12720	ENSP00000381008:G12720D	ENSP00000381008:G12720D	G	-	2	0	MUC16	8876664	0.000000	0.05858	0.016000	0.15963	0.103000	0.19146	0.069000	0.14552	1.616000	0.50265	0.305000	0.20034	GGC		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1	122	579	0	137	1	9.005634e-01	7	14	0	137	2		0	0	0	0	0	2	1	1	120	564	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9046155	9046155	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046155G>T	ENST00000397910.4	-	5	35679	c.35476C>A	c.(35476-35478)Ctt>Att	p.L11826I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					CCAGTTACAAGTAGGGTGAAG	0.502000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604682	0.14002	.	.	ENSG00000181143	ENST00000397910	T	0.03496	3.91	2.32	-1.49	0.08718	.	.	.	.	.	T	0.02848	0.0085	L	0.29908	0.895	.	.	.	P	0.46020	0.871	B	0.41036	0.346	T	0.39333	-0.9619	8	0.87932	D	0	.	3.3382	0.07108	0.2855:0.0:0.5162:0.1983	.	11826	B5ME49	.	I	11826	ENSP00000381008:L11826I	ENSP00000381008:L11826I	L	-	1	0	MUC16	8907155	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.672000	0.05244	-0.245000	0.09625	0.305000	0.20034	CTT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	54	192	0	49	1	9.972815e-01	20	15	0	49	2		0	0	0	0	0	2	1	1	53	185	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9046323	9046323	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046323T>C	ENST00000397910.4	-	5	35511	c.35308A>G	c.(35308-35310)Acc>Gcc	p.T11770A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					AAGGCTGTGGTCTCTGGCATA	0.483000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.046	0.563457	0.13498	.	.	ENSG00000181143	ENST00000397910	T	0.02050	4.48	3.57	1.5	0.22942	.	.	.	.	.	T	0.02533	0.0077	L	0.43152	1.355	.	.	.	P	0.35745	0.518	B	0.36378	0.223	T	0.30851	-0.9964	8	0.87932	D	0	.	5.016	0.14337	0.0:0.2506:0.0:0.7494	.	11770	B5ME49	.	A	11770	ENSP00000381008:T11770A	ENSP00000381008:T11770A	T	-	1	0	MUC16	8907323	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.377000	0.20552	0.270000	0.21984	0.454000	0.30748	ACC		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	62	246	0	69	1	9.959092e-01	12	24	0	69	2		0	0	0	0	0	2	1	1	61	241	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9047105	9047105	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047105A>C	ENST00000397910.4	-	5	34729	c.34526T>G	c.(34525-34527)tTt>tGt	p.F11509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					ACTATGGGAAAACTTGGGAGT	0.502000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.552	-0.091455	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.02197	4.4	2.48	1.45	0.22620	.	.	.	.	.	T	0.05640	0.0148	L	0.55481	1.735	.	.	.	D	0.61080	0.989	P	0.59012	0.85	T	0.25152	-1.0140	8	0.87932	D	0	.	4.1958	0.10443	0.8262:0.0:0.1738:0.0	.	11509	B5ME49	.	C	11509	ENSP00000381008:F11509C	ENSP00000381008:F11509C	F	-	2	0	MUC16	8908105	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.007000	0.12810	0.381000	0.24851	0.478000	0.44815	TTT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	88	435	0	100	1	9.456667e-01	7	19	0	100	2		0	0	0	0	0	2	1	1	87	424	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9047793	9047793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047793T>C	ENST00000397910.4	-	5	34041	c.33838A>G	c.(33838-33840)Aca>Gca	p.T11280A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					CTTGAGGTTGTCCTGGGAAGA	0.463000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.086	0.201588	0.09652	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.27	1.24	0.21308	.	.	.	.	.	T	0.03136	0.0092	L	0.52573	1.65	.	.	.	P	0.45594	0.862	P	0.44477	0.451	T	0.33879	-0.9851	8	0.87932	D	0	.	4.1022	0.10018	0.0:0.1779:0.0:0.8221	.	11280	B5ME49	.	A	11280	ENSP00000381008:T11280A	ENSP00000381008:T11280A	T	-	1	0	MUC16	8908793	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.040000	0.13905	0.311000	0.23014	0.414000	0.27820	ACA		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	19	102	0	33	1	8.389925e-01	6	14	0	33	2		0	0	0	0	0	2	1	9.999938e-01	19	100	0	33	2								-12.333280	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999585	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9048279	9048279	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048279G>T	ENST00000397910.4	-	5	33555	c.33352C>A	c.(33352-33354)Ctt>Att	p.L11118I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	p.L6751F(1)|p.L11118F(1)		590					CTAGAAGAAAGAGTTAGAATT	0.498000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.847	0.157510	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02342	0.0072	L	0.40543	1.245	.	.	.	B	0.27656	0.184	B	0.30646	0.118	T	0.43147	-0.9409	8	0.87932	D	0	.	0.4756	0.00539	0.1814:0.21:0.2627:0.3459	.	11118	B5ME49	.	I	11118	ENSP00000381008:L11118I	ENSP00000381008:L11118I	L	-	1	0	MUC16	8909279	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.687000	0.00393	-2.006000	0.00958	-0.492000	0.04666	CTT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	78	324	0	91	1	9.048925e-01	9	10	0	91	2		0	0	0	0	0	2	1	1	77	316	0	90	2								-3.240602	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9048837	9048837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048837C>A	ENST00000397910.4	-	5	32997	c.32794G>T	c.(32794-32796)Gga>Tga	p.G10932*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GTCACCACTCCTGGTACCCCA	0.488000																								0							SO:0001587	stop_gained			ENST00000397910.4	0	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	50.752531	0.99988	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.7	1.49	0.22878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.7297	0.18032	0.0:0.7426:0.0:0.2574	.	.	.	.	X	10932	.	ENSP00000381008:G10932X	G	-	1	0	MUC16	8909837	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.870000	0.04228	0.476000	0.27440	0.586000	0.80456	GGA		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	115	453	0	109	1	6.325488e-01	5	5	0	109	2		0	0	0	0	0	2	1	1	112	444	0	108	2								-3.690072	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9054331	9054331	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9054331C>A	ENST00000397910.4	-	4	31494	c.31291G>T	c.(31291-31293)Gaa>Taa	p.E10431*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GTGATGTGTTCCATAATGCCA	0.458000																								0							SO:0001587	stop_gained			ENST00000397910.4	0	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	48.001481	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.25	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4466	0.16539	0.0:0.2562:0.1717:0.5721	.	.	.	.	X	10431	.	ENSP00000381008:E10431X	E	-	1	0	MUC16	8915331	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	-0.925000	0.03775	-0.218000	0.12543	GAA		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	18	104	0	31	1	5.123137e-01	4	7	0	31	2		0	0	0	0	0	2	1	9.999825e-01	16	100	0	31	2								-11.470490	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999048	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9057514	9057514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9057514C>A	ENST00000397910.4	-	3	30135	c.29932G>T	c.(29932-29934)Gcc>Tcc	p.A9978S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GCCAAGGGGGCTGTTGTTGTG	0.463000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.810	0.333732	0.11013	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.13	-3.47	0.04753	.	.	.	.	.	T	0.12475	0.0303	N	0.19112	0.55	.	.	.	B	0.23540	0.087	B	0.26517	0.07	T	0.33445	-0.9868	8	0.87932	D	0	.	0.2525	0.00207	0.2077:0.2926:0.2051:0.2946	.	9978	B5ME49	.	S	9978	ENSP00000381008:A9978S	ENSP00000381008:A9978S	A	-	1	0	MUC16	8918514	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.167000	0.01271	-0.745000	0.04772	0.460000	0.39030	GCC		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	204	873	0	221	1	8.584247e-01	10	7	0	221	2		0	0	0	0	0	2	1	1	200	848	1	221	17								-20.000000	1	1	120934	1	35	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9058483	9058483	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9058483T>C	ENST00000397910.4	-	3	29166	c.28963A>G	c.(28963-28965)Aca>Gca	p.T9655A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	p.T5288A(1)|p.T9655A(1)		590					GCAGATTCTGTCATGATGGGA	0.502000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	t	3.411	-0.120141	0.06838	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.87	-5.75	0.02384	.	.	.	.	.	T	0.01254	0.0041	N	0.12746	0.255	.	.	.	B	0.16603	0.018	B	0.12837	0.008	T	0.47315	-0.9127	8	0.87932	D	0	.	2.8337	0.05507	0.1338:0.4125:0.2706:0.183	.	9655	B5ME49	.	A	9655	ENSP00000381008:T9655A	ENSP00000381008:T9655A	T	-	1	0	MUC16	8919483	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.607000	0.05648	-2.430000	0.00557	-0.710000	0.03640	ACA		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	80	281	0	73	1	6.863238e-01	3	7	0	73	2		0	0	0	0	0	2	1	1	79	277	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9060121	9060121	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9060121T>A	ENST00000397910.4	-	3	27528	c.27325A>T	c.(27325-27327)Act>Tct	p.T9109S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TGAGATGCAGTTGAGTGGGTC	0.488000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	9.422	1.083164	0.20309	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.5	-4.42	0.03579	.	.	.	.	.	T	0.12178	0.0296	N	0.24115	0.695	.	.	.	B	0.23990	0.095	B	0.20767	0.031	T	0.29671	-1.0004	8	0.87932	D	0	.	0.5924	0.00730	0.1927:0.3402:0.1947:0.2725	.	9109	B5ME49	.	S	9109	ENSP00000381008:T9109S	ENSP00000381008:T9109S	T	-	1	0	MUC16	8921121	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	-2.678000	0.00839	-0.967000	0.03582	0.378000	0.23410	ACT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	75	332	0	88	1	7.922263e-01	11	4	0	88	2		0	0	0	0	0	2	1	1	74	325	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9061129	9061129	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9061129T>C	ENST00000397910.4	-	3	26520	c.26317A>G	c.(26317-26319)Att>Gtt	p.I8773V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GGAGTAGAAATTCTAGTGATG	0.507000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	4.633	0.117590	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	2.28	-2.41	0.06562	.	.	.	.	.	T	0.01421	0.0046	N	0.19112	0.55	.	.	.	B	0.16603	0.018	B	0.13407	0.009	T	0.48990	-0.8985	8	0.87932	D	0	.	0.0826	0.00033	0.2812:0.2196:0.2523:0.2469	.	8773	B5ME49	.	V	8773	ENSP00000381008:I8773V	ENSP00000381008:I8773V	I	-	1	0	MUC16	8922129	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.877000	0.04197	-0.533000	0.06323	0.248000	0.18094	ATT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	101	388	0	84	1	1.933958e-01	3	1	0	84	2		0	0	0	0	0	2	1	1	93	380	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9062517	9062517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9062517C>A	ENST00000397910.4	-	3	25132	c.24929G>T	c.(24928-24930)aGg>aTg	p.R8310M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TATGCCCATCCTGTCTGTGGT	0.478000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.250	-1.007424	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.21031	2.03	2.58	-5.16	0.02857	.	.	.	.	.	T	0.10380	0.0254	N	0.22421	0.69	.	.	.	B	0.23854	0.092	B	0.21917	0.037	T	0.19549	-1.0302	8	0.87932	D	0	.	0.8857	0.01243	0.3313:0.3119:0.159:0.1978	.	8310	B5ME49	.	M	8310	ENSP00000381008:R8310M	ENSP00000381008:R8310M	R	-	2	0	MUC16	8923517	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.886000	0.00712	-4.006000	0.00082	-0.815000	0.03128	AGG		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	102	412	0	98	1	3.436897e-01	3	3	0	98	2		0	0	0	0	0	2	1	1	96	404	0	98	2								-2.976431	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9066782	9066782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9066782C>T	ENST00000397910.4	-	3	20867	c.20664G>A	c.(20662-20664)gcG>gcA	p.A6888A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					CCACATTAGTCGCTGCTGTGC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	1	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	160	787	0	149	1	7.107896e-01	6	8	0	149	2		0	0	0	0	0	2	1	1	156	769	0	149	2								-20.000000	1	1	121172	7	41	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9067822	9067822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9067822T>C	ENST00000397910.4	-	3	19827	c.19624A>G	c.(19624-19626)Act>Gct	p.T6542A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GGGAGTGAAGTCAGATGAACA	0.507000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.252	-0.371374	0.05034	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	0.691	0.691	0.18045	.	.	.	.	.	T	0.37019	0.0988	L	0.52573	1.65	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.52260	-0.8599	7	0.87932	D	0	.	.	.	.	.	6542	B5ME49	.	A	6542	ENSP00000381008:T6542A	ENSP00000381008:T6542A	T	-	1	0	MUC16	8928822	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.860000	0.04272	0.568000	0.29311	0.149000	0.16113	ACT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	35	140	0	38	1	1.876986e-01	2	2	0	38	2		0	0	0	0	0	2	1	1	35	137	0	38	2								-19.997550	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9070734	9070734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9070734G>A	ENST00000397910.4	-	3	16915	c.16712C>T	c.(16711-16713)aCt>aTt	p.T5571I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					AGCCCCAGGAGTAGTTGTTTG	0.512000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.656	-0.512783	0.04200	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.4	-0.935	0.10423	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.42749	-0.9433	8	0.87932	D	0	.	4.1256	0.10126	0.4334:0.0:0.5666:0.0	.	5571	B5ME49	.	I	5571	ENSP00000381008:T5571I	ENSP00000381008:T5571I	T	-	2	0	MUC16	8931734	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.341000	0.07811	-0.205000	0.10219	-0.703000	0.03666	ACT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	170	779	0	195	1	3.670190e-01	5	2	0	195	2		0	0	0	0	0	2	1	1	167	761	0	194	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9072986	9072986	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9072986A>G	ENST00000397910.4	-	3	14663	c.14460T>C	c.(14458-14460)gaT>gaC	p.D4820D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TTGTCTCTATATCTGTGGTGG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	1	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	47	237	0	63	1	1.995874e-01	2	3	0	63	2		0	0	0	0	0	2	1	1	47	233	0	62	2								-19.999990	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9075035	9075035	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9075035G>T	ENST00000397910.4	-	3	12614	c.12411C>A	c.(12409-12411)ctC>ctA	p.L4137L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					CTTTGCTAAAGAGAGTGGTCT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	1	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	62	334	0	67	0	6.791854e-02	0	3	0	67	2		0	0	0	0	0	2	1	1	59	325	0	66	2								-3.228449	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9084855	9084855	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9084855G>T	ENST00000397910.4	-	1	7163	c.6960C>A	c.(6958-6960)acC>acA	p.T2320T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GAGCAGCAGAGGTGATTGTCC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	1	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	27	124	0	34	0	0	1	0	0	34	2		0	0	0	0	0	2	1	1	27	121	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9085462	9085462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085462G>A	ENST00000397910.4	-	1	6556	c.6353C>T	c.(6352-6354)gCg>gTg	p.A2118V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					CAAAGTACTCGCGGCTGTATT	0.488000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.343569	0.01277	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.49303	-0.8954	7	0.87932	D	0	.	.	.	.	.	2118	B5ME49	.	V	2118	ENSP00000381008:A2118V	ENSP00000381008:A2118V	A	-	2	0	MUC16	8946462	0.005000	0.15991	0.008000	0.14137	0.008000	0.06430	-0.606000	0.05654	-1.808000	0.01234	-1.786000	0.00637	GCG		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	136	661	0	147	0	0	0	1	0	147	2		0	0	0	0	0	2	1	1	134	649	0	146	2								-20.000000	1	0	120836	2	32	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9085546	9085546	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085546A>C	ENST00000397910.4	-	1	6472	c.6269T>G	c.(6268-6270)tTt>tGt	p.F2090C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					AAAGAGTGGAAATTCAGTCGT	0.473000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.555	-0.847763	0.02651	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.235	0.235	0.15431	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	.	.	.	D	0.67145	0.996	D	0.65773	0.938	T	0.45338	-0.9268	7	0.87932	D	0	.	.	.	.	.	2090	B5ME49	.	C	2090	ENSP00000381008:F2090C	ENSP00000381008:F2090C	F	-	2	0	MUC16	8946546	0.009000	0.17119	0.102000	0.21198	0.102000	0.19082	0.745000	0.26259	0.263000	0.21812	0.260000	0.18958	TTT		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1	168	726	0	198		0	0	0	0	198	2		0	0	0	0	0	2	1	1	162	713	0	198	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9089523	9089523	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089523C>T	ENST00000397910.4	-	1	2495	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					CTGAGCTGGGCTTTGTCTTTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	1	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	0	134	616	0	143	1	3.225183e-02	2	0	0	143	2		0	0	0	0	0	2	1	1	129	598	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9089904	9089904	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	p.S637S(2)		590					TCAAATCTGCGGATGTCTCAG	0.582000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000397910.4	1	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	18	522	0	82	0	0	0	1	0	82	2		0	0	0	0	0	2	1	9.999798e-01	18	514	0	82	2								-2.617219	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.410000	0.240000	1.000000	0.400000	0.459888	0.410000	0	3.100000e-01	5.400000e-01
MUC16	94025	broad.mit.edu	37	19	9090171	9090171	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090171G>T	ENST00000397910.4	-	1	1847	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TTGATGCTGGGGGTCTCTCTG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	1	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	49	243	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	48	233	0	47	2								-2.920353	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC16	94025	broad.mit.edu	37	19	9090699	9090699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090699C>A	ENST00000397910.4	-	1	1319	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TATCCATGGTCTCAGCGAAGG	0.517000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.030	-0.199854	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.38	-1.31	0.09230	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.15719	0.014	B	0.10450	0.005	T	0.46816	-0.9164	8	0.87932	D	0	.	1.9136	0.03292	0.3171:0.4568:0.0:0.2261	.	372	B5ME49	.	D	372	ENSP00000381008:E372D	ENSP00000381008:E372D	E	-	3	2	MUC16	8951699	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-3.040000	0.00633	-0.277000	0.09193	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	45	190	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	44	188	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1M1	125963	broad.mit.edu	37	19	9204616	9204616	+	Silent	SNP	C	C	T	rs142350139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9204616C>T	ENST00000429566.3	+	1	762	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1			32					CCTCTGCAGGCGGCAGGAAGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000429566.3	1	1	hg19	CCDS32896.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1	1	0	1	127	573	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	1	124	566	0	156	2								-20.000000	1	1	121412	3	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR7G3	390883	broad.mit.edu	37	19	9236904	9236904	+	Silent	SNP	G	G	A	rs143566600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9236904G>A	ENST00000305444.2	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3			15					AATGTGACCCGCAGATGGAAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000305444.2	1	1	hg19	CCDS32899.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1	1	0	0	28	590	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	27	578	0	127	2								-3.269778	1	1	121412	25	48	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.550000	0.360000	1.000000	0.530000	0.587131	0.550000	0	4.500000e-01	6.900000e-01
OR7G3	390883	broad.mit.edu	37	19	9237060	9237060	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9237060A>G	ENST00000305444.2	-	1	566	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3			15					GGACATCAGAACAGGCGAGCT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000305444.2	1	1	hg19	CCDS32899.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1	1	0	1	71	270	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	70	265	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF317	57693	broad.mit.edu	37	19	9271217	9271217	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9271217T>C	ENST00000247956.6	+	7	1201	c.896T>C	c.(895-897)gTt>gCt	p.V299A	ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317			27					CACATGCGAGTTCACACTGGC	0.567000																								0							SO:0001583	missense			ENST00000247956.6	1	1	hg19	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763244	0.31228	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.09817	2.94;2.94	3.61	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.417750	0.17679	N	0.165690	T	0.06735	0.0172	N	0.17564	0.495	0.09310	N	1	B;B	0.25772	0.11;0.134	B;B	0.29077	0.059;0.098	T	0.31998	-0.9923	10	0.87932	D	0	-17.6165	6.4498	0.21898	0.0:0.2528:0.0:0.7472	.	267;299	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	A	299;267	ENSP00000247956:V299A;ENSP00000353554:V267A	ENSP00000247956:V299A	V	+	2	0	ZNF317	9132217	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	-0.182000	0.09726	0.218000	0.20820	0.482000	0.46254	GTT		TCGA-IB-7651-01A-11D-2154-08	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	1	0	1	95	309	0	71	1	9.999997e-01	27	47	0	71	2		0	0	0	0	0	2	1	1	93	307	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR7D2	162998	broad.mit.edu	37	19	9296785	9296785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9296785C>A	ENST00000344248.2	+	1	507	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	p.L110V(1)		20					TTTTCCTATTCTGGACACGCT	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000344248.2	1	1	hg19	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.390430	0.01185	.	.	ENSG00000188000	ENST00000344248	T	0.00892	5.57	2.21	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31268	U	0.007960	T	0.00580	0.0019	N	0.17872	0.535	0.09310	N	1	B	0.23937	0.094	B	0.23852	0.049	T	0.47560	-0.9108	10	0.31617	T	0.26	.	1.8614	0.03189	0.4995:0.2153:0.1648:0.1204	.	110	Q96RA2	OR7D2_HUMAN	M	110	ENSP00000345563:L110M	ENSP00000345563:L110M	L	+	1	2	OR7D2	9157785	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.338000	0.07842	-0.321000	0.08627	0.511000	0.50034	CTG		TCGA-IB-7651-01A-11D-2154-08	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1	1	0	1	144	675	0	168		0	0	0	0	168	2		0	0	0	0	0	2	1	1	144	664	0	168	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR7D4	125958	broad.mit.edu	37	19	9324695	9324695	+	Silent	SNP	G	G	A	rs141567228	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324695G>A	ENST00000308682.2	-	1	847	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4			26					TCACTGAGGCGGTGGAGCTGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000308682.2	1	1	hg19	CCDS32901.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	0	0	0	12	319	1	103		0	0	0	1	103	2		0	0	0	0	0	2	0	5.424761e-01	11	308	1	103	12								-2.642297	1	1	121412	21	47	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.450000	0.240000	1.000000	0.420000	0.500639	0.450000	0	3.300000e-01	6.300000e-01
OR7D4	125958	broad.mit.edu	37	19	9324922	9324922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324922C>T	ENST00000308682.2	-	1	620	c.592G>A	c.(592-594)Gtc>Atc	p.V198I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4			26					ACATACAAGACAATGTTATTG	0.522000																								0							SO:0001583	missense			ENST00000308682.2	1	1	hg19	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475593	0.26511	.	.	ENSG00000174667	ENST00000308682	T	0.37235	1.21	4.0	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	2.995800	0.00741	N	0.001017	T	0.25382	0.0617	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.12656	-1.0539	10	0.49607	T	0.09	.	3.2699	0.06878	0.216:0.4146:0.0713:0.2981	.	198	Q8NG98	OR7D4_HUMAN	I	198	ENSP00000310488:V198I	ENSP00000310488:V198I	V	-	1	0	OR7D4	9185922	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.342000	0.00130	-1.946000	0.01035	-0.436000	0.05848	GTC		TCGA-IB-7651-01A-11D-2154-08	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	1	0	1	92	421	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	92	406	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR7D4	125958	broad.mit.edu	37	19	9325388	9325388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325388G>A	ENST00000308682.2	-	1	154	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4			26					TGATGAGCAGGTTCCCCAGCA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000308682.2	1	1	hg19	CCDS32901.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	1	0	0	105	419	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1	103	401	0	118	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR7D4	125958	broad.mit.edu	37	19	9325480	9325480	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325480A>C	ENST00000308682.2	-	1	62	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4			26					AGGAGGAGAAATTTTGATAAT	0.498000																								0							SO:0001583	missense			ENST00000308682.2	1	1	hg19	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841269	0.51057	.	.	ENSG00000174667	ENST00000308682	T	0.04551	3.6	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000010	T	0.24470	0.0593	H	0.94847	3.59	0.20703	N	0.999866	D	0.58268	0.982	P	0.58454	0.839	T	0.20940	-1.0260	10	0.87932	D	0	.	11.8803	0.52571	1.0:0.0:0.0:0.0	.	12	Q8NG98	OR7D4_HUMAN	V	12	ENSP00000310488:F12V	ENSP00000310488:F12V	F	-	1	0	OR7D4	9186480	0.974000	0.33945	0.032000	0.17829	0.013000	0.08279	2.328000	0.43867	1.762000	0.52044	0.172000	0.16884	TTT		TCGA-IB-7651-01A-11D-2154-08	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	1	0	0	39	357	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	39	355	0	90	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.850000	1.000000	1.000000	0.988634	0.990000	1	9.900000e-01	1
OR7E24	26648	broad.mit.edu	37	19	9362113	9362113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362113C>A	ENST00000456448.1	+	1	508	c.394C>A	c.(394-396)Ctc>Atc	p.L132I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24			16					GGATGACATGCTCCTGAGTGT	0.478000																								0							SO:0001583	missense			ENST00000456448.1	1	1	hg19	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	7.659	0.684572	0.14973	.	.	ENSG00000237521	ENST00000456448	T	0.06371	3.31	2.39	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09555	0.0235	L	0.45051	1.395	0.09310	N	1	D	0.62365	0.991	P	0.52672	0.706	T	0.21280	-1.0250	9	0.62326	D	0.03	.	7.3681	0.26785	0.1775:0.4772:0.3453:0.0	.	132	Q6IFN5	O7E24_HUMAN	I	132	ENSP00000387523:L132I	ENSP00000387523:L132I	L	+	1	0	OR7E24	9223113	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.683000	0.01934	-0.433000	0.07286	-0.445000	0.05633	CTC		TCGA-IB-7651-01A-11D-2154-08	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1	1	0	1	56	231	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	56	229	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR7E24	26648	broad.mit.edu	37	19	9362432	9362432	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362432A>C	ENST00000456448.1	+	1	827	c.713A>C	c.(712-714)aAa>aCa	p.K238T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24			16					TCTTACTATAAAATTGTTTCC	0.423000																								0							SO:0001583	missense			ENST00000456448.1	0	1	hg19	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	a	14.88	2.666845	0.47677	.	.	ENSG00000237521	ENST00000456448	T	0.00084	8.75	2.21	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.73319	2.225	0.09310	N	1	D	0.67145	0.996	D	0.66196	0.942	T	0.45352	-0.9267	9	0.87932	D	0	.	7.2389	0.26086	0.481:0.0:0.519:0.0	.	238	Q6IFN5	O7E24_HUMAN	T	238	ENSP00000387523:K238T	ENSP00000387523:K238T	K	+	2	0	OR7E24	9223432	0.000000	0.05858	0.000000	0.03702	0.612000	0.37316	-1.031000	0.03578	-0.447000	0.07138	0.358000	0.22013	AAA		TCGA-IB-7651-01A-11D-2154-08	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1	1	0	1	21	78	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.999988e-01	20	77	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
ZNF699	374879	broad.mit.edu	37	19	9406257	9406257	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9406257C>A	ENST00000591998.1	-	6	2051	c.1823G>T	c.(1822-1824)aGc>aTc	p.S608I	ZNF699_ENST00000308650.3_Missense_Mutation_p.S608I|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699			24					TCCAGTGTGGCTTCTCACATG	0.443000																								0							SO:0001583	missense			ENST00000591998.1	1	0	hg19	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.458727	0.01062	.	.	ENSG00000196110	ENST00000308650	T	0.17691	2.26	3.59	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000443	T	0.03915	0.0110	N	0.01761	-0.735	0.09310	N	1	B	0.25850	0.136	B	0.26517	0.07	T	0.41875	-0.9484	10	0.02654	T	1	.	7.2873	0.26346	0.3585:0.2286:0.413:0.0	.	608	Q32M78	ZN699_HUMAN	I	608	ENSP00000311596:S608I	ENSP00000311596:S608I	S	-	2	0	ZNF699	9267257	0.000000	0.05858	0.006000	0.13384	0.974000	0.67602	-0.665000	0.05286	-0.241000	0.09681	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	1	0	1	82	333	0	77	1	7.580527e-01	3	10	0	77	2		0	0	0	0	0	2	1	1	81	328	0	76	2								-3.242885	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF699	374879	broad.mit.edu	37	19	9408561	9408561	+	Missense_Mutation	SNP	C	C	T	rs140037536	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9408561C>T	ENST00000591998.1	-	4	509	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.R94Q			Q32M78	ZN699_HUMAN	zinc finger protein 699			24					CTTGCCTTCCCGGTGCTCTCC	0.443000																								0							SO:0001583	missense			ENST00000591998.1	1	0	hg19	CCDS42495.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	c	3.095	-0.185964	0.06340	0.013506	1.22E-4	ENSG00000196110	ENST00000308650	T	0.07021	3.23	3.47	1.34	0.21922	.	.	.	.	.	T	0.01189	0.0039	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46610	-0.9179	9	0.21014	T	0.42	.	3.0093	0.06039	0.2105:0.1181:0.0:0.6714	.	94	Q32M78	ZN699_HUMAN	Q	94	ENSP00000311596:R94Q	ENSP00000311596:R94Q	R	-	2	0	ZNF699	9269561	0.018000	0.18449	0.609000	0.28983	0.041000	0.13682	0.508000	0.22692	0.197000	0.20387	-1.300000	0.01332	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	1	0	1	53	305	0	84	1	6.383035e-01	2	12	0	84	2		0	0	0	0	0	2	1	1	50	297	0	84	2								-2.308546	0	1	120808	171	56	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF559	84527	broad.mit.edu	37	19	9452958	9452958	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9452958C>T	ENST00000393883.2	+	6	1479	c.831C>T	c.(829-831)gcC>gcT	p.A277A	ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.A197A|ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559			26					TTGGCAAAGCCTTTGCTTTTT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000393883.2	1	1	hg19	CCDS12211.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	1	0	1	87	425	0	125	1	8.917951e-01	6	15	0	125	2		0	0	0	0	0	2	1	1	87	423	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF559	84527	broad.mit.edu	37	19	9453386	9453386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9453386G>A	ENST00000393883.2	+	6	1907	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q|ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559			26					GCCTTCATTCGATCCTCATTT	0.418000																								0							SO:0001583	missense			ENST00000393883.2	1	1	hg19	CCDS12211.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	2.445	-0.327701	0.05314	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.15017	2.46;2.46	2.22	-4.44	0.03557	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.17278	0.47	0.09310	N	1	P;D;P	0.76494	0.937;0.999;0.544	B;P;B	0.61592	0.162;0.891;0.032	T	0.05750	-1.0866	9	0.02654	T	1	.	3.6878	0.08335	0.2228:0.0:0.325:0.4522	.	420;420;340	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Q	420;340;420	ENSP00000442832:R340Q;ENSP00000377461:R420Q	ENSP00000325393:R420Q	R	+	2	0	ZNF559	9314386	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-2.816000	0.00752	-1.259000	0.02468	0.313000	0.20887	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	1	0	1	68	319	0	68	1	9.865948e-01	9	25	0	68	2		0	0	0	0	0	2	1	1	66	314	0	68	2								-3.375833	1	1	121412	11	45	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF177	7730	broad.mit.edu	37	19	9492029	9492029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9492029A>G	ENST00000589262.1	+	6	1088	c.1022A>G	c.(1021-1023)gAc>gGc	p.D341G	ZNF177_ENST00000541595.2_Missense_Mutation_p.D181G|ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177			13					AAACCCTATGACTGTAAGGAA	0.458000																								0							SO:0001583	missense			ENST00000589262.1	1	1	hg19	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.361363	0.41801	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.18174	3.19;3.19;2.23	2.64	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	N	0.11023	0.085	0.25653	N	0.986071	B;B	0.32396	0.08;0.369	B;B	0.30251	0.085;0.113	T	0.21965	-1.0230	8	0.87932	D	0	.	3.3069	0.07003	0.5169:0.2449:0.0:0.2382	.	341;181	B4DY57;Q13360	.;ZN177_HUMAN	G	181;181;341	ENSP00000445323:D181G;ENSP00000341497:D181G;ENSP00000415070:D341G	ENSP00000341497:D181G	D	+	2	0	ZNF177	9353029	0.000000	0.05858	0.714000	0.30535	0.991000	0.79684	0.192000	0.17096	0.402000	0.25451	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	1	0	1	68	287	0	88	0	6.003645e-01	1	9	0	88	2		0	0	0	0	0	2	1	1	65	279	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9639635C>T	ENST00000535489.1	-	6	1422	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF426_ENST00000593003.1_Silent_p.K324K|ZNF426_ENST00000253115.2_Silent_p.K362K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426			20					ATTCATAGGGCTTGTCTCCAC	0.443000																								0							SO:0001819	synonymous_variant			ENST00000535489.1	1	1	hg19	CCDS12215.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	1	0	1	66	254	0	68	1	9.626707e-01	3	20	0	68	2		0	0	0	0	0	2	1	1	66	252	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARID3A	1820	broad.mit.edu	37	19	964313	964313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:964313C>A	ENST00000263620.3	+	5	1159	c.832C>A	c.(832-834)Ctg>Atg	p.L278M		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)			10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			GCTGTACGTGCTGGTGACGGA	0.617000													Pancreas(29;54 1022 32760 50921)											0							SO:0001583	missense			ENST00000263620.3	1	1	hg19	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578725	0.65878	.	.	ENSG00000116017	ENST00000263620	T	0.68025	-0.3	4.5	3.2	0.36748	ARID/BRIGHT DNA-binding domain (5);	0.152498	0.45361	D	0.000380	T	0.79423	0.4443	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.81448	-0.0928	10	0.72032	D	0.01	-15.9204	10.6806	0.45813	0.0:0.8824:0.0:0.1176	.	278	Q99856	ARI3A_HUMAN	M	278	ENSP00000263620:L278M	ENSP00000263620:L278M	L	+	1	2	ARID3A	915313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.605000	0.61119	2.061000	0.61500	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	1	0	1	38	177	0	66	1	9.521070e-01	4	22	0	66	2		0	0	0	0	0	2	1	1	38	173	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF426	79088	broad.mit.edu	37	19	9644530	9644530	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9644530T>C	ENST00000535489.1	-	3	566	c.230A>G	c.(229-231)aAc>aGc	p.N77S	ZNF426_ENST00000589289.1_Missense_Mutation_p.N77S|ZNF426_ENST00000593003.1_Missense_Mutation_p.N39S|ZNF426_ENST00000253115.2_Missense_Mutation_p.N77S			Q9BUY5	ZN426_HUMAN	zinc finger protein 426			20					TGTGGCCAGGTTCTTGTAGTT	0.478000																								0							SO:0001583	missense			ENST00000535489.1	1	1	hg19	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708981	0.48517	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.02525	4.26;4.26	1.41	0.358	0.16084	Krueppel-associated box (4);	.	.	.	.	T	0.09335	0.0230	M	0.81682	2.555	0.09310	N	1	P;P	0.51057	0.941;0.941	P;P	0.60415	0.874;0.874	T	0.21999	-1.0229	9	0.59425	D	0.04	.	1.4957	0.02466	0.3116:0.2127:0.0:0.4757	.	64;77	Q59EH4;Q9BUY5	.;ZN426_HUMAN	S	64;77;77	ENSP00000253115:N77S;ENSP00000439017:N77S	ENSP00000253115:N77S	N	-	2	0	ZNF426	9505530	0.000000	0.05858	0.017000	0.16124	0.816000	0.46133	-0.969000	0.03813	0.046000	0.15833	0.260000	0.18958	AAC		TCGA-IB-7651-01A-11D-2154-08	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	0	0	0	46	490	1	124	1	5.793811e-01	6	16	1	124	2		0	0	0	0	0	2	1	1	45	485	0	123	2								-13.120760	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.760000	1.000000	1.000000	0.959709	0.990000	1	8.800000e-01	1
ARID3A	1820	broad.mit.edu	37	19	971939	971939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	p.G552G(1)		10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			AAGGAggcggcggcggcggcg	0.657000													Pancreas(29;54 1022 32760 50921)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000263620.3	1	1	hg19	CCDS12050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	1	0	0	66	285	0	71	0	7.325820e-01	0	13	0	71	2		0	0	0	0	0	2	1	1	64	317	0	82	2								-20.000000	1	1	119976	16	39	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF561	93134	broad.mit.edu	37	19	9721015	9721015	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9721015C>T	ENST00000302851.3	-	6	1685	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q|ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561			14					GGTATGAGTTCGCAGGTGAAC	0.418000																								0							SO:0001583	missense			ENST00000302851.3	1	1	hg19	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592903	0.28357	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.02369	4.32;4.32;4.32	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.11665	-1.0578	9	0.66056	D	0.02	.	8.1044	0.30877	0.0:1.0:0.0:0.0	.	441	Q8N587	ZN561_HUMAN	Q	372;441;305	ENSP00000393074:R372Q;ENSP00000303915:R441Q;ENSP00000346687:R305Q	ENSP00000303915:R441Q	R	-	2	0	ZNF561	9582015	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.801000	0.04550	0.905000	0.36596	0.298000	0.19748	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	1	0	1	143	730	1	185	1	9.998831e-01	23	70	1	185	4		0	0	0	0	0	2	1	1	142	720	1	184	17								-3.223379	1	1	121412	3	40	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF846	162993	broad.mit.edu	37	19	9869139	9869139	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9869139C>A	ENST00000397902.2	-	6	1027	c.614G>T	c.(613-615)aGa>aTa	p.R205I	ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I|ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846			22					AAGAAAAGTTCTCCAACAGTC	0.358000																								0							SO:0001583	missense			ENST00000397902.2	1	1	hg19	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.235018	0.39498	.	.	ENSG00000196605	ENST00000397902	T	0.38887	1.11	1.9	-1.57	0.08506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33411	0.0862	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.41299	0.353	T	0.23868	-1.0176	8	.	.	.	.	6.1997	0.20569	0.0:0.3568:0.0:0.6432	.	205	Q147U1	ZN846_HUMAN	I	205	ENSP00000380999:R205I	.	R	-	2	0	ZNF846	9730139	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.490000	0.22403	-0.348000	0.08286	0.558000	0.71614	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	1	0	1	49	268	0	77	0	6.684788e-02	1	2	0	77	2		0	0	0	0	0	2	1	1	48	260	0	77	2								-19.999960	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
WDR18	57418	broad.mit.edu	37	19	990913	990913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:990913C>A	ENST00000251289.5	+	5	682	c.659C>A	c.(658-660)gCa>gAa	p.A220E	WDR18_ENST00000587001.2_Missense_Mutation_p.A220E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18			7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			TCCATCATGGCAGTGACCATG	0.652000																								0							SO:0001583	missense			ENST00000251289.5	0	1	hg19	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350431	0.41599	.	.	ENSG00000065268	ENST00000251289	T	0.20332	2.08	3.93	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.190944	0.46442	D	0.000281	T	0.28001	0.0690	M	0.70595	2.14	0.43390	D	0.995501	P	0.44776	0.843	B	0.41723	0.365	T	0.29852	-0.9998	10	0.72032	D	0.01	.	15.1128	0.72372	0.0:1.0:0.0:0.0	.	220	Q9BV38	WDR18_HUMAN	E	220	ENSP00000251289:A220E	ENSP00000251289:A220E	A	+	2	0	WDR18	941913	1.000000	0.71417	0.198000	0.23420	0.043000	0.13939	7.146000	0.77373	2.034000	0.60081	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2	0	0	0	8	300	0	50	1	9.558512e-01	8	199	0	50	2		0	0	0	0	0	2	1	9.891878e-01	8	297	0	49	2								-3.553999	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.330000	0.150000	1.000000	0.300000	0.392728	0.330000	0	2.200000e-01	5.000000e-01
FBXL12	54850	broad.mit.edu	37	19	9921948	9921948	+	Missense_Mutation	SNP	C	C	A	rs142733350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9921948C>A	ENST00000247977.4	-	3	846	c.605G>T	c.(604-606)aGc>aTc	p.S202I	FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12			10					CTGCAGATAGCTGAGCTCCTG	0.667000																								0							SO:0001583	missense			ENST00000247977.4	1	1	hg19	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067447	0.36470	.	.	ENSG00000127452	ENST00000247977	T	0.18174	2.23	5.0	1.69	0.24217	.	0.694941	0.14622	N	0.308337	T	0.07234	0.0183	N	0.08118	0	0.32275	N	0.568401	B	0.32693	0.38	B	0.31869	0.137	T	0.34502	-0.9826	9	.	.	.	.	6.1812	0.20472	0.0:0.668:0.0:0.332	.	202	Q9NXK8	FXL12_HUMAN	I	202	ENSP00000247977:S202I	.	S	-	2	0	FBXL12	9782948	0.867000	0.29959	0.915000	0.36163	0.768000	0.43524	0.358000	0.20216	0.259000	0.21709	-0.136000	0.14681	AGC		TCGA-IB-7651-01A-11D-2154-08	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	1	0	1	73	255	0	62	1	9.999994e-01	9	66	0	62	2		0	0	0	0	0	2	1	1	73	254	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIN1	5300	broad.mit.edu	37	19	9949194	9949194	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9949194C>T	ENST00000247970.4	+	2	163	c.141C>T	c.(139-141)aaC>aaT	p.N47N	PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Silent_p.N47N|PIN1_ENST00000588695.1_Silent_p.N47N	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1			3					GTGGCAAAAACGGGCAGGGGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000247970.4	1	1	hg19	CCDS12220.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1	1	0	0	16	61	0	12	1	1	89	265	0	12	2		0	0	0	0	0	2	1	9.999578e-01	15	60	0	11	2								-20.000000	1	1	120926	2	28	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
OLFM2	93145	broad.mit.edu	37	19	9964924	9964924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9964924C>T	ENST00000264833.4	-	6	1488	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2			31					ACCTGGTGGCCGTTGTTCCAG	0.602000																								0							SO:0001583	missense			ENST00000264833.4	1	1	hg19	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172235	0.78452	.	.	ENSG00000105088	ENST00000264833	D	0.91124	-2.79	4.3	4.3	0.51218	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96436	0.9323	9	.	.	.	.	14.3013	0.66355	0.0:1.0:0.0:0.0	.	435	O95897	NOE2_HUMAN	S	435	ENSP00000264833:G435S	.	G	-	1	0	OLFM2	9825924	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.556000	0.82233	2.204000	0.70986	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	1	77	307	0	73	1	1	119	175	0	73	2		0	0	0	0	0	2	1	1	77	297	0	72	2								-3.249169	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OLFM2	93145	broad.mit.edu	37	19	9965413	9965413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965413C>T	ENST00000264833.4	-	6	999	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2			31					TTGTACACCACGTGGCCCGTG	0.612000																								0							SO:0001583	missense			ENST00000264833.4	1	1	hg19	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566389	0.65651	.	.	ENSG00000105088	ENST00000264833	D	0.91996	-2.95	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.64402	D	0.000001	D	0.95762	0.8621	M	0.89601	3.045	0.80722	D	1	D	0.60575	0.988	P	0.58130	0.833	D	0.96273	0.9200	9	.	.	.	.	14.6457	0.68759	0.0:1.0:0.0:0.0	.	272	O95897	NOE2_HUMAN	M	272	ENSP00000264833:V272M	.	V	-	1	0	OLFM2	9826413	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.556000	0.82233	2.291000	0.77112	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	1	33	155	0	34	1	1	63	122	0	34	2		0	0	0	0	0	2	1	1	32	152	0	33	2								-20.000000	1	0	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
OLFM2	93145	broad.mit.edu	37	19	9965432	9965432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965432C>T	ENST00000264833.4	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	OLFM2_ENST00000590841.1_Silent_p.P187P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2			31					TGCCCGCCCACGGCTGGGGCA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000264833.4	1	1	hg19	CCDS12221.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	1	32	119	0	29	1	1	82	106	0	29	2		0	0	0	0	0	2	1	1	31	116	0	29	2								-20.000000	1	0	121406	1	31	1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OLFM2	93145	broad.mit.edu	37	19	9968460	9968460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9968460C>A	ENST00000264833.4	-	3	476	c.291G>T	c.(289-291)gaG>gaT	p.E97D	OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2			31					GCATGAGGGTCTCCATGCCGC	0.617000																								0							SO:0001583	missense			ENST00000264833.4	1	1	hg19	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158524	0.78114	.	.	ENSG00000105088	ENST00000264833	T	0.59224	0.28	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.73217	2.22	0.46149	D	0.998896	D	0.76494	0.999	D	0.77557	0.99	T	0.70193	-0.4939	9	.	.	.	.	7.3153	0.26498	0.0:0.8816:0.0:0.1184	.	97	O95897	NOE2_HUMAN	D	97	ENSP00000264833:E97D	.	E	-	3	2	OLFM2	9829460	0.747000	0.28283	1.000000	0.80357	0.936000	0.57629	1.459000	0.35234	2.021000	0.59480	0.306000	0.20318	GAG		TCGA-IB-7651-01A-11D-2154-08	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	1	63	274	0	60	1	1	73	81	0	60	2		0	0	0	0	0	2	1	1	62	270	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OLFM2	93145	broad.mit.edu	37	19	9971444	9971444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9971444G>A	ENST00000264833.4	-	2	275	c.90C>T	c.(88-90)ggC>ggT	p.G30G	OLFM2_ENST00000590841.1_5'Flank	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2			31					ACAGCTGCCAGCCCTCTTCTG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000264833.4	1	1	hg19	CCDS12221.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1	1	0	1	11	49	0	14	1	9.999976e-01	60	81	0	14	2		0	0	0	0	0	2	1	9.986222e-01	11	47	0	14	2								-19.944710	1	1	0	0		1	1	2	3	2.010022	0	0.170000	2.060000	1.769955e-01	0.990000	0.990000	1.000000	1.000000	0.998583	0.990000	1	9.900000e-01	1
AGL	178	broad.mit.edu	37	1	100329978	100329978	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100329978T>G	ENST00000294724.4	+	5	975	c.497T>G	c.(496-498)cTt>cGt	p.L166R	AGL_ENST00000370161.2_Missense_Mutation_p.L150R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R|AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000370163.3_Missense_Mutation_p.L166R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase			69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)			TTGCAGACTCTTGGACTATCT	0.378000																								0							SO:0001583	missense			ENST00000294724.4	0	1	hg19	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520963	0.85495	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.47	5.47	0.80525	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.86694	0.5994	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.84330	0.0521	10	0.17832	T	0.49	.	15.5552	0.76187	0.0:0.0:0.0:1.0	.	149;150;166	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	R	166;166;166;166;150;150;149	ENSP00000355106:L166R;ENSP00000359184:L166R;ENSP00000359182:L166R;ENSP00000294724:L166R;ENSP00000354971:L150R;ENSP00000359180:L150R;ENSP00000354635:L149R	ENSP00000294724:L166R	L	+	2	0	AGL	100102566	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.782000	0.85680	2.078000	0.62432	0.460000	0.39030	CTT		TCGA-IB-7651-01A-11D-2154-08	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	0	0	0	10	519	0	98	0	1.447625e-01	0	32	0	98	2		0	0	0	0	0	2	1	9.966206e-01	10	509	0	98	2								-8.346152	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.200000	0.100000	0.350000	0.200000	0.218884	0.200000	0	1.400000e-01	2.800000e-01
AGL	178	broad.mit.edu	37	1	100349724	100349724	+	Missense_Mutation	SNP	C	C	T	rs147586981		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100349724C>T	ENST00000294724.4	+	18	2835	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	AGL_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M|AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000370163.3_Missense_Mutation_p.T786M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase			69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)			GAGAGAAACACGAAACCTTAT	0.318000																								0							SO:0001583	missense			ENST00000294724.4	1	1	hg19	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247814	0.10130	2.27E-4	0.0	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.8	2.91	0.33838	.	0.294418	0.40064	N	0.001190	T	0.11922	0.0290	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.31274	0.317;0.317;0.212	B;B;B	0.36989	0.238;0.238;0.12	T	0.13019	-1.0525	10	0.46703	T	0.11	.	10.9457	0.47299	0.0:0.7394:0.0:0.2606	.	769;770;786	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	M	786;786;786;786;770;770;769	ENSP00000355106:T786M;ENSP00000359184:T786M;ENSP00000359182:T786M;ENSP00000294724:T786M;ENSP00000354971:T770M;ENSP00000359180:T770M;ENSP00000354635:T769M	ENSP00000294724:T786M	T	+	2	0	AGL	100122312	0.001000	0.12720	0.014000	0.15608	0.097000	0.18754	0.478000	0.22212	0.788000	0.33755	-0.143000	0.13931	ACG		TCGA-IB-7651-01A-11D-2154-08	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	1	0	0	20	216	0	84	1	8.585911e-01	5	35	0	84	2		0	0	0	0	0	2	1	9.999961e-01	20	215	0	84	2								-8.141136	1	1	121392	1	41	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.820000	0.550000	0.990000	0.880000	0.816382	0.820000	0	6.800000e-01	9.400000e-01
AGL	178	broad.mit.edu	37	1	100356893	100356893	+	Missense_Mutation	SNP	G	G	A	rs147977213	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100356893G>A	ENST00000294724.4	+	22	3408	c.2930G>A	c.(2929-2931)cGa>cAa	p.R977Q	AGL_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q|AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000370163.3_Missense_Mutation_p.R977Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase			69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)			CTTATTTCACGATCAGGAACT	0.323000																								0							SO:0001583	missense			ENST00000294724.4	1	1	hg19	CCDS759.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.44	3.624360	0.66901	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.38838	1.175	0.80722	D	1	P;P;P	0.42649	0.786;0.786;0.681	B;B;B	0.39660	0.306;0.306;0.161	T	0.57505	-0.7800	10	0.13853	T	0.58	.	19.852	0.96744	0.0:0.0:1.0:0.0	.	960;961;977	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	977;977;977;977;961;961;960	ENSP00000355106:R977Q;ENSP00000359184:R977Q;ENSP00000359182:R977Q;ENSP00000294724:R977Q;ENSP00000354971:R961Q;ENSP00000359180:R961Q;ENSP00000354635:R960Q	ENSP00000294724:R977Q	R	+	2	0	AGL	100129481	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	3.025000	0.49681	2.703000	0.92315	0.579000	0.79373	CGA		TCGA-IB-7651-01A-11D-2154-08	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	1	0	1	79	303	0	93	1	9.994240e-01	20	25	0	93	2		0	0	0	0	0	2	1	1	77	300	0	93	2								-3.676013	1	1	121410	12	45	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.984164	0.980000	1	9.600000e-01	1
SLC35A3	23443	broad.mit.edu	37	1	100464905	100464905	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100464905G>T	ENST00000370155.3	+	3	668	c.276G>T	c.(274-276)ggG>ggT	p.G92G	SLC35A3_ENST00000465289.1_Silent_p.G92G|SLC35A3_ENST00000370153.1_Silent_p.G134G|SLC35A3_ENST00000427993.2_Silent_p.G92G|SLC35A3_ENST00000370156.3_3'UTR|RNU6-1318P_ENST00000365389.1_RNA	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3			11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)			TTCCATCAGGGATCTATACTC	0.299000													Ovarian(7;298 356 944 2149 6911)											0							SO:0001819	synonymous_variant			ENST00000370155.3	1	1	hg19	CCDS762.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	1	0	0	25	263	0	66	0	9.762891e-01	1	65	0	66	2		0	0	0	0	0	2	1	9.999998e-01	23	260	0	65	2								-3.221883	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.590000	0.990000	0.910000	0.838519	0.840000	0	7.200000e-01	9.500000e-01
SLC35A3	23443	broad.mit.edu	37	1	100472710	100472710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100472710C>T	ENST00000370155.3	+	4	855	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	SLC35A3_ENST00000465289.1_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370156.3_3'UTR	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3			11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)			TGCTTTTGTACAGGTAACTAT	0.308000													Ovarian(7;298 356 944 2149 6911)											0							SO:0001587	stop_gained			ENST00000370155.3	0	1	hg19	CCDS762.1	.	.	.	.	.	.	.	.	.	.	C	37	6.147607	0.97324	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9071	18.1433	0.89647	0.0:1.0:0.0:0.0	.	.	.	.	X	155;155;155;197;155	.	ENSP00000359172:Q197X	Q	+	1	0	SLC35A3	100245298	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	7.487000	0.81328	2.292000	0.77174	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	1	0	0	22	255	0	66	1	9.889804e-01	2	84	0	66	2		0	0	0	0	0	2	1	9.999988e-01	22	250	0	66	2								-7.757216	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.800000	0.530000	0.990000	0.830000	0.796901	0.800000	0	6.600000e-01	9.300000e-01
HIAT1	64645	broad.mit.edu	37	1	100546193	100546193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100546193G>A	ENST00000370152.3	+	11	1380	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	SASS6_ENST00000462159.1_5'Flank|RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1			16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)			ACAAACACAAGCCCTCAGCAC	0.408000																								0							SO:0001583	missense			ENST00000370152.3	1	1	hg19	CCDS763.1	.	.	.	.	.	.	.	.	.	.	G	8.672	0.902999	0.17760	.	.	ENSG00000156875	ENST00000370152	T	0.80909	-1.43	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.796683	0.11231	N	0.585655	T	0.34279	0.0892	N	0.01576	-0.805	0.21220	N	0.999753	B	0.02656	0.0	B	0.04013	0.001	T	0.13388	-1.0511	10	0.11794	T	0.64	-9.2588	11.0974	0.48152	0.0:0.1286:0.7219:0.1495	.	415	Q96MC6	HIAT1_HUMAN	N	415	ENSP00000359171:S415N	ENSP00000359171:S415N	S	+	2	0	HIAT1	100318781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.722000	0.38042	2.534000	0.85438	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	0	0	0	24	678	0	170	1	9.996944e-01	17	337	0	170	2		0	0	0	0	0	2	1	9.999996e-01	24	667	0	169	2								-3.622521	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.360000	0.240000	0.520000	0.360000	0.376957	0.360000	0	2.900000e-01	4.500000e-01
LRRC39	127495	broad.mit.edu	37	1	100624921	100624921	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100624921A>C	ENST00000370137.1	-	5	468	c.270T>G	c.(268-270)ctT>ctG	p.L90L	LRRC39_ENST00000342895.3_Silent_p.L90L|LRRC39_ENST00000370138.1_Silent_p.L90L	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39			13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)			CAGTTCTATGAAGTTGCCATT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000370137.1	1	1	hg19	CCDS766.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	1	0	1	77	323	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	77	318	0	99	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982566	0.980000	1	9.500000e-01	1
CDC14A	8556	broad.mit.edu	37	1	100963751	100963751	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100963751C>T	ENST00000336454.3	+	14	1764	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.A470V|CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A			31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)			TCTTCGGGTGCCACTGTAAGA	0.468000																								0							SO:0001583	missense			ENST00000336454.3	1	1	hg19	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	7.262	0.605482	0.14002	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.10668	2.85;2.85;3.07;2.89	5.23	3.36	0.38483	.	0.679120	0.15124	N	0.279214	T	0.02380	0.0073	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.0;0.001;0.004	T	0.44421	-0.9329	10	0.24483	T	0.36	0.0399	10.4088	0.44280	0.0:0.8468:0.0:0.1532	.	412;470;470;470	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	V	412;470;470;470	ENSP00000442640:A412V;ENSP00000354916:A470V;ENSP00000336739:A470V;ENSP00000442543:A470V	ENSP00000336739:A470V	A	+	2	0	CDC14A	100736339	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	2.762000	0.47597	0.697000	0.31718	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	0	0	0	38	512	0	146	0	3.645601e-01	1	17	0	146	2		0	0	0	0	0	2	1	1	38	500	0	145	2								-8.552237	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.730000	0.530000	0.940000	0.730000	0.741046	0.730000	0	6.200000e-01	8.500000e-01
CDC14A	8556	broad.mit.edu	37	1	100964692	100964692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100964692C>T	ENST00000336454.3	+	15	1984	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	CDC14A_ENST00000361544.6_Silent_p.N543N|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.N543N|CDC14A_ENST00000542213.1_Silent_p.N485N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A			31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)			GCAACAGCAACGGGGGCAACC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000336454.3	1	1	hg19	CCDS769.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	1	0	1	39	297	0	68	0	5.733384e-01	0	16	0	68	2		0	0	0	0	0	2	1	1	39	287	0	67	2								-15.128760	1	1	121412	2	40	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.770000	1.000000	0.990000	0.931789	0.940000	1	8.600000e-01	9.900000e-01
VCAM1	7412	broad.mit.edu	37	1	101190358	101190358	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101190358T>C	ENST00000294728.2	+	4	941	c.840T>C	c.(838-840)gcT>gcC	p.A280A	VCAM1_ENST00000370115.1_Silent_p.A280A|VCAM1_ENST00000370119.4_Silent_p.A218A|VCAM1_ENST00000347652.2_Silent_p.A280A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1			56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Carvedilol(DB01136)	CCTTAATTGCTATGAGGATGG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000294728.2	1	1	hg19	CCDS773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	1	0	0	21	227	0	47	0	9.981709e-01	0	111	0	47	2		0	0	0	0	0	2	1	9.999974e-01	20	221	0	47	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.820000	0.550000	0.990000	0.880000	0.819131	0.820000	0	6.900000e-01	9.400000e-01
VCAM1	7412	broad.mit.edu	37	1	101194700	101194700	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101194700G>A	ENST00000294728.2	+	5	1067	c.966G>A	c.(964-966)cgG>cgA	p.R322R	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.R260R|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1			56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Carvedilol(DB01136)	CTGGACCCCGGATTGCTGCTC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000294728.2	1	1	hg19	CCDS773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	0	0	0	19	514	0	126	0	9.830738e-01	1	179	0	126	2		0	0	0	0	0	2	1	9.999893e-01	19	505	0	125	2								-3.309036	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.380000	0.230000	0.560000	0.380000	0.395058	0.380000	0	3.000000e-01	4.800000e-01
EXTL2	2135	broad.mit.edu	37	1	101342387	101342387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101342387C>A	ENST00000370114.3	-	4	1903	c.467G>T	c.(466-468)aGc>aTc	p.S156I	EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I|EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2			14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)			GTCTGGGGTGCTGATGAGTGT	0.358000																								0							SO:0001583	missense			ENST00000370114.3	1	1	hg19	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351157	0.82132	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88495	0.3078	10	0.51188	T	0.08	-29.5482	20.1572	0.98116	0.0:1.0:0.0:0.0	.	155;156	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	I	156;156;143;164	ENSP00000359132:S156I;ENSP00000359131:S156I;ENSP00000444385:S143I;ENSP00000403363:S164I	ENSP00000359131:S156I	S	-	2	0	EXTL2	101114975	1.000000	0.71417	0.977000	0.42913	0.534000	0.34807	7.388000	0.79795	2.762000	0.94881	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	1	0	1	60	285	0	81	0	9.957232e-01	0	42	0	81	2		0	0	0	0	0	2	1	1	58	276	0	81	2								-3.374323	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.974608	0.970000	1	9.400000e-01	1
EXTL2	2135	broad.mit.edu	37	1	101343202	101343202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101343202G>T	ENST00000370114.3	-	3	1699	c.263C>A	c.(262-264)gCt>gAt	p.A88D	EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D|EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2			14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)			ATTTGGTACAGCCTGATAATG	0.418000																								0							SO:0001583	missense			ENST00000370114.3	1	1	hg19	CCDS775.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959892	0.92791	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	M	0.74647	2.275	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63877	0.919;0.919	D	0.85227	0.1030	10	0.54805	T	0.06	-22.5163	20.0018	0.97417	0.0:0.0:1.0:0.0	.	88;88	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	D	88;88;75;96;75	ENSP00000359132:A88D;ENSP00000359131:A88D;ENSP00000444385:A75D;ENSP00000403363:A96D;ENSP00000392255:A75D	ENSP00000359131:A88D	A	-	2	0	EXTL2	101115790	1.000000	0.71417	0.963000	0.40424	0.825000	0.46686	6.182000	0.71995	2.793000	0.96121	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	0	0	1	49	379	1	97	0	8.689895e-01	0	42	1	97	3		0	0	0	0	0	2	1	9.999950e-01	49	373	1	95	16								-18.500650	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.941085	0.950000	1	8.800000e-01	9.900000e-01
SLC30A7	148867	broad.mit.edu	37	1	101377772	101377772	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101377772T>C	ENST00000370112.4	+	5	676	c.489T>C	c.(487-489)ggT>ggC	p.G163G	SLC30A7_ENST00000357650.4_Silent_p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7			15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)			AACATGGAGGTCATGGACATT	0.378000													NSCLC(91;473 1491 3102 16827 21633)											0							SO:0001819	synonymous_variant			ENST00000370112.4	1	1	hg19	CCDS776.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	1	0	1	114	768	0	190	1	9.835407e-01	9	36	0	190	2		0	0	0	0	0	2	1	1	114	750	0	190	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.979191	0.980000	1	9.500000e-01	1
DPH5	51611	broad.mit.edu	37	1	101456141	101456141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101456141G>A	ENST00000370109.3	-	8	793	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.A227A|AC093157.1_ENST00000593496.1_Silent_p.S45S|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000342173.7_Silent_p.A226A	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5			7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)			TCTGGTCGTCGGCTCCAACCC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000370109.3	1	0	hg19	CCDS41358.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	1	0	1	54	231	0	65	1	9.999998e-01	24	77	0	65	2		0	0	0	0	0	2	1	1	52	224	0	65	2								-3.107644	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.973988	0.970000	1	9.400000e-01	1
UBE4B	10277	broad.mit.edu	37	1	10205050	10205050	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10205050G>A	ENST00000253251.8	+	17	2868	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	UBE4B_ENST00000377157.3_Missense_Mutation_p.A561T|UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T					ubiquitination factor E4B			48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			TTCCCCACTGGCAACTAGACA	0.378000																								0							SO:0001583	missense			ENST00000253251.8	1	1	hg19	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	36	5.958480	0.97145	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.76	5.83	5.83	0.93111	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.986;0.977;0.975	T	0.77178	-0.2683	10	0.59425	D	0.04	-15.8352	20.1047	0.97888	0.0:0.0:1.0:0.0	.	677;806;677	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	677;561;806	ENSP00000253251:A677T;ENSP00000366362:A561T;ENSP00000343001:A806T	ENSP00000253251:A677T	A	+	1	0	UBE4B	10127637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.183000	0.94887	2.762000	0.94881	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	1	0	1	19	203	0	51	1	9.556080e-01	11	47	0	51	2		0	0	0	0	0	2	1	9.999916e-01	19	200	0	49	2								-19.999990	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.820000	0.540000	0.990000	0.890000	0.816509	0.820000	0	6.800000e-01	9.400000e-01
C1orf159	54991	broad.mit.edu	37	1	1021354	1021354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1021354A>G	ENST00000379339.1	-	9	667	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000448924.1_Missense_Mutation_p.F153L			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159				all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CTAATGAAGAACGTGCCCAGG	0.627000																								0							SO:0001583	missense			ENST00000379339.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	3.692	-0.063333	0.07273	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.71	0.953	0.19590	.	0.327541	0.30392	N	0.009729	T	0.16342	0.0393	N	0.05574	-0.02	0.23435	N	0.997682	B;B;B;B;B	0.25772	0.004;0.134;0.003;0.035;0.004	B;B;B;B;B	0.28139	0.004;0.086;0.006;0.086;0.004	T	0.23511	-1.0186	9	0.23302	T	0.38	-0.9141	7.575	0.27931	0.5555:0.0:0.4445:0.0	.	117;153;117;117;117	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	L	153;153;117;117;117;117;117;128;117	.	ENSP00000294576:F117L	F	-	1	0	C1orf159	1011217	0.906000	0.30813	0.004000	0.12327	0.027000	0.11550	1.415000	0.34748	-0.073000	0.12842	0.402000	0.26972	TTC		TCGA-IB-7651-01A-11D-2154-08	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	1	0	0	17	181	0	41	1	2.948341e-01	3	9	0	41	2		0	0	0	0	0	2	1	9.999653e-01	17	176	0	41	2								-19.999350	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.820000	0.530000	0.990000	0.880000	0.810172	0.820000	0	6.700000e-01	9.400000e-01
UBE4B	10277	broad.mit.edu	37	1	10239537	10239537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10239537G>A	ENST00000253251.8	+	26	4216	c.3377G>A	c.(3376-3378)cGc>cAc	p.R1126H	UBE4B_ENST00000377157.3_Missense_Mutation_p.R1014H|UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H					ubiquitination factor E4B	p.R1126H(1)		48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			ATCATGGACCGCTCCATCATC	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000253251.8	1	1	hg19	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	37	6.084238	0.97267	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.71222	-0.55;-0.45;-0.5	5.78	5.78	0.91487	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.94035	0.7304	10	0.87932	D	0	-18.2393	19.9987	0.97401	0.0:0.0:1.0:0.0	.	1255;1126	O95155;O95155-2	UBE4B_HUMAN;.	H	1126;1014;1255	ENSP00000253251:R1126H;ENSP00000366362:R1014H;ENSP00000343001:R1255H	ENSP00000253251:R1126H	R	+	2	0	UBE4B	10162124	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.819000	0.99357	2.738000	0.93877	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	1	0	1	66	524	0	129	1	9.998946e-01	20	86	0	129	2		0	0	0	0	0	2	1	1	64	512	0	129	2								-19.995890	1	1	121412	1	31	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.950758	0.950000	1	9.000000e-01	9.900000e-01
COL11A1	1301	broad.mit.edu	37	1	103345315	103345315	+	Missense_Mutation	SNP	C	C	T	rs140250347	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103345315C>T	ENST00000370096.3	-	66	5510	c.5198G>A	c.(5197-5199)cGc>cAc	p.R1733H	COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H|COL11A1_ENST00000358392.2_Missense_Mutation_p.R1745H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	p.R1745P(1)		258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)			TCCCAGGAAGCGAAGTGCTTT	0.433000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370096.3	1	1	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325201	0.81580	0.0	3.49E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (4);	0.057950	0.64402	D	0.000002	T	0.66025	0.2748	M	0.64567	1.98	0.58432	D	0.999994	B;B;B;B;B	0.25719	0.132;0.108;0.108;0.132;0.025	B;B;B;B;B	0.22386	0.039;0.023;0.023;0.039;0.011	T	0.65245	-0.6215	10	0.51188	T	0.08	.	19.7856	0.96434	0.0:1.0:0.0:0.0	.	1617;1694;1745;1733;953	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1733;1745;1694;953;1617	ENSP00000359114:R1733H;ENSP00000351163:R1745H;ENSP00000302551:R1694H;ENSP00000426533:R1617H	ENSP00000302551:R1694H	R	-	2	0	COL11A1	103117903	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	6.009000	0.70745	2.747000	0.94245	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	1	0	0	27	341	0	72	0	9.999969e-01	0	257	0	72	2		0	0	0	0	0	2	1	1	27	337	0	72	2								-8.041330	1	1	121410	53	51	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.760000	0.520000	0.970000	0.770000	0.768496	0.760000	0	6.300000e-01	8.900000e-01
COL11A1	1301	broad.mit.edu	37	1	103496747	103496747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103496747G>T	ENST00000370096.3	-	5	1017	c.705C>A	c.(703-705)taC>taA	p.Y235*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Y235*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1			258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)			AATGCTCACAGTAGTCATATG	0.453000																								0							SO:0001587	stop_gained			ENST00000370096.3	0	1	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	38	6.717392	0.97784	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	.	.	.	5.59	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.568	0.33552	0.1728:0.0:0.8272:0.0	.	.	.	.	X	235;235;235;235;235;162	.	ENSP00000302551:Y235X	Y	-	3	2	COL11A1	103269335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.964000	0.70379	2.631000	0.89168	0.551000	0.68910	TAC		TCGA-IB-7651-01A-11D-2154-08	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	0	0	0	35	137	1	23	0	9.936919e-01	0	209	1	23	24		0	0	0	0	0	2	1	9.877486e-01	33	135	1	23	20								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.961918	0.960000	1	9.200000e-01	1
COL11A1	1301	broad.mit.edu	37	1	103544316	103544316	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103544316A>C	ENST00000370096.3	-	3	698	c.386T>G	c.(385-387)gTt>gGt	p.V129G	COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G|COL11A1_ENST00000358392.2_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1			258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)			CCCAACCTCAACACCAATTTG	0.393000																								0							SO:0001583	missense			ENST00000370096.3	1	1	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684905	0.68157	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02	5.53	5.53	0.82687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.86573	2.825	0.80722	D	1	P;D;D;D	0.58970	0.815;0.98;0.98;0.984	P;P;P;P	0.54815	0.583;0.649;0.649;0.761	T	0.00942	-1.1506	10	0.87932	D	0	.	15.6579	0.77158	1.0:0.0:0.0:0.0	.	129;129;129;129	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	129;129;129;129;129;56	ENSP00000359114:V129G;ENSP00000351163:V129G;ENSP00000302551:V129G;ENSP00000426533:V129G;ENSP00000408640:V129G;ENSP00000410177:V56G	ENSP00000302551:V129G	V	-	2	0	COL11A1	103316904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.107000	0.64212	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	1	0	1	49	198	0	48	0	1	0	111	0	48	2		0	0	0	0	0	2	1	1	48	194	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972355	0.970000	1	9.400000e-01	1
KIF1B	23095	broad.mit.edu	37	1	10386320	10386320	+	Missense_Mutation	SNP	G	G	A	rs142567076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10386320G>A	ENST00000377086.1	+	27	3029	c.2827G>A	c.(2827-2829)Gcc>Acc	p.A943T	KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T|KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T			O60333	KIF1B_HUMAN	kinesin family member 1B	p.A897T(1)		71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			CGTGGATGACGCCGGCTCTGA	0.547000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000377086.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.925	0.540275	0.13250	0.0	4.65E-4	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71341	-0.49;-0.56;-0.56	5.6	3.16	0.36331	.	0.107337	0.64402	N	0.000005	T	0.31071	0.0785	N	0.00661	-1.28	0.27977	N	0.936175	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.36016	-0.9765	10	0.05436	T	0.98	.	8.6096	0.33795	0.8277:0.0:0.1723:0.0	.	929;903;943;917;943;897	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	943;897;943;943	ENSP00000263934:A897T;ENSP00000366290:A943T;ENSP00000366284:A943T	ENSP00000263934:A897T	A	+	1	0	KIF1B	10308907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.138000	0.58017	0.857000	0.35407	-0.355000	0.07637	GCC		TCGA-IB-7651-01A-11D-2154-08	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	0	0	1	115	429	0	118	0	4.544267e-02	0	2	0	118	2		0	0	0	0	0	2	1	1	110	421	0	117	2								-3.201400	1	1	121412	12	47	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.990056	0.980000	1	9.700000e-01	1
KIF1B	23095	broad.mit.edu	37	1	10412734	10412734	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10412734C>T	ENST00000377086.1	+	38	4197	c.3995C>T	c.(3994-3996)gCc>gTc	p.A1332V	KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V			O60333	KIF1B_HUMAN	kinesin family member 1B			71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			GCAGTTGATGCCATCCTCTCC	0.438000																								0							SO:0001583	missense			ENST00000377086.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.4	4.414574	0.83449	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72505	-0.59;-0.66;-0.66	5.76	5.76	0.90799	.	0.053671	0.64402	D	0.000001	T	0.69287	0.3094	N	0.16656	0.425	0.58432	D	0.999998	B;P;P;P;B;P	0.46327	0.018;0.728;0.873;0.876;0.101;0.621	B;B;P;P;B;B	0.54026	0.032;0.245;0.585;0.74;0.096;0.404	T	0.65240	-0.6216	10	0.23302	T	0.38	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1318;1292;1332;1306;1332;1286	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1332;1286;1332;1332	ENSP00000263934:A1286V;ENSP00000366290:A1332V;ENSP00000366284:A1332V	ENSP00000263934:A1286V	A	+	2	0	KIF1B	10335321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.784000	0.68990	2.713000	0.92767	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	1	0	1	74	318	0	75	1	9.879204e-01	6	26	0	75	2		0	0	0	0	0	2	1	1	74	313	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981416	0.980000	1	9.500000e-01	1
AMY2A	279	broad.mit.edu	37	1	104160181	104160181	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:104160181C>T	ENST00000414303.2	+	1	183	c.119C>T	c.(118-120)gCt>gTt	p.A40V		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)			22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	GTTGATATTGCTCTTGAATGT	0.438000																								0							SO:0001583	missense			ENST00000414303.2	0	1	hg19	CCDS783.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.039061	0.75617	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	3.22	3.22	0.36961	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91673	0.5352	9	0.87932	D	0	.	14.5293	0.67912	0.0:1.0:0.0:0.0	.	40;40	B9EJG1;P04746	.;AMYP_HUMAN	V	40	.	ENSP00000377509:A40V	A	+	2	0	AMY2A	103961704	1.000000	0.71417	0.990000	0.47175	0.742000	0.42306	7.069000	0.76755	1.784000	0.52394	0.455000	0.32223	GCT		TCGA-IB-7651-01A-11D-2154-08	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	0	0	0	21	731	0	237	0	9.789979e-01	0	218	0	237	2		0	0	0	0	0	2	1	9.995463e-01	13	409	0	301	2								-3.312661	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.290000	0.190000	0.440000	0.300000	0.310013	0.290000	0	2.400000e-01	3.700000e-01
PGD	5226	broad.mit.edu	37	1	10473299	10473299	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10473299A>G	ENST00000270776.8	+	8	873	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	PGD_ENST00000541529.1_Missense_Mutation_p.T257A|PGD_ENST00000538557.1_Missense_Mutation_p.T266A	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase			14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CGTACCCGTCACCCTCATTGG	0.537000																								0							SO:0001583	missense			ENST00000270776.8	1	1	hg19	CCDS113.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724706	0.89298	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.45668	0.89;0.89;0.89	5.06	5.06	0.68205	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.79424	-0.1809	10	0.87932	D	0	-26.9004	15.1463	0.72653	1.0:0.0:0.0:0.0	.	257;279;279	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	A	257;225;279;266	ENSP00000442285:T257A;ENSP00000270776:T279A;ENSP00000437822:T266A	ENSP00000270776:T279A	T	+	1	0	PGD	10395886	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.224000	0.95209	2.043000	0.60533	0.519000	0.50382	ACC		TCGA-IB-7651-01A-11D-2154-08	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	1	0	1	29	219	0	46	1	1	110	479	0	46	2		0	0	0	0	0	2	1	1	29	217	0	46	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.916332	0.920000	1	8.300000e-01	9.800000e-01
PEX14	5195	broad.mit.edu	37	1	10689807	10689807	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689807C>T	ENST00000356607.4	+	9	977	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PEX14_ENST00000538836.1_Silent_p.G235G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14			13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)			AGGAGGAAGGCGAGGGGGTGG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000356607.4	1	1	hg19	CCDS30582.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1	1	0	1	14	55	0	12	1	9.999404e-01	16	61	0	12	2		0	0	0	0	0	2	1	9.998461e-01	14	54	0	11	2								-11.739900	1	1	120676	3	35	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.930000	0.700000	1.000000	0.990000	0.912843	0.930000	1	8.300000e-01	9.900000e-01
PEX14	5195	broad.mit.edu	37	1	10689966	10689966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689966C>T	ENST00000356607.4	+	9	1136	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PEX14_ENST00000538836.1_Silent_p.G288G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14			13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)			ACCGCCGGGGCGGGGATGGGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000356607.4	1	1	hg19	CCDS30582.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1	1	0	1	67	213	0	32	1	9.989633e-01	14	21	0	32	2		0	0	0	0	0	2	1	1	64	203	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982953	0.980000	1	9.600000e-01	1
CASZ1	54897	broad.mit.edu	37	1	10699493	10699493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10699493C>T	ENST00000377022.3	-	21	5103	c.4786G>A	c.(4786-4788)Gag>Aag	p.E1596K	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1			54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)		TCCTGCTTCTCGTGCTTGCGC	0.701000																								0							SO:0001583	missense			ENST00000377022.3	0	1	hg19	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625625	0.46840	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.1	3.17	0.36434	.	0.000000	0.44285	U	0.000477	T	0.31451	0.0797	N	0.24115	0.695	0.80722	D	1	D	0.55172	0.97	B	0.39805	0.31	T	0.08973	-1.0696	9	0.46703	T	0.11	-3.7018	12.0567	0.53540	0.0:0.9135:0.0:0.0865	.	1596	Q86V15	CASZ1_HUMAN	K	1596	.	ENSP00000366221:E1596K	E	-	1	0	CASZ1	10622080	1.000000	0.71417	0.966000	0.40874	0.389000	0.30415	5.532000	0.67154	0.835000	0.34877	0.195000	0.17529	GAG		TCGA-IB-7651-01A-11D-2154-08	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	0	0	0	7	52	0	9	1	9.160875e-02	2	2	0	9	2		0	0	0	0	0	2	1	9.817485e-01	7	51	0	9	2								-13.800970	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.820000	0.450000	0.990000	0.990000	0.802814	0.820000	0	6.400000e-01	9.500000e-01
CASZ1	54897	broad.mit.edu	37	1	10714519	10714519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10714519C>T	ENST00000377022.3	-	10	2112	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1			54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)		AACTGGCAGTCGGCTGTGCCA	0.597000																								0							SO:0001583	missense			ENST00000377022.3	1	1	hg19	CCDS41246.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.40	3.821316	0.71028	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.87	4.87	0.63330	.	0.194076	0.53938	D	0.000050	T	0.56514	0.1990	N	0.12746	0.255	0.45464	D	0.998434	P;D;D	0.62365	0.851;0.981;0.991	B;P;P	0.57911	0.147;0.481;0.829	T	0.62139	-0.6917	9	0.44086	T	0.13	-42.6794	18.4056	0.90535	0.0:1.0:0.0:0.0	.	623;599;599	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	N	599	.	ENSP00000339445:D599N	D	-	1	0	CASZ1	10637106	1.000000	0.71417	0.942000	0.38095	0.790000	0.44656	4.571000	0.60879	2.421000	0.82119	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	1	0	1	44	377	0	85	1	7.524674e-01	10	15	0	85	2		0	0	0	0	0	2	1	1	44	376	0	82	2								-15.352820	1	1	121412	1	39	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.930000	0.750000	1.000000	0.990000	0.921534	0.930000	1	8.500000e-01	9.900000e-01
CASZ1	54897	broad.mit.edu	37	1	10720073	10720073	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10720073C>T	ENST00000377022.3	-	6	1343	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.E342E	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1			54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)		ACTTGACATTCTCCAGGTCGT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000377022.3	1	1	hg19	CCDS41246.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	1	0	1	164	575	0	133	1	9.799925e-01	15	9	0	133	2		0	0	0	0	0	2	1	1	163	568	0	132	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.993938	0.990000	1	9.800000e-01	1
CASZ1	54897	broad.mit.edu	37	1	10725412	10725412	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10725412C>A	ENST00000377022.3	-	5	550	c.233G>T	c.(232-234)cGc>cTc	p.R78L	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	p.R78H(1)		54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)		TTCCTCGCTGCGGGGGGCCCG	0.701000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000377022.3	1	1	hg19	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463829	0.43736	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.203933	0.32314	N	0.006272	T	0.24890	0.0604	N	0.04508	-0.205	0.30057	N	0.811243	B;B;B	0.26512	0.002;0.151;0.002	B;B;B	0.25987	0.002;0.065;0.002	T	0.14309	-1.0477	9	0.37606	T	0.19	-17.2461	17.4322	0.87542	0.0:1.0:0.0:0.0	.	102;78;78	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	L	78	.	ENSP00000339445:R78L	R	-	2	0	CASZ1	10647999	0.750000	0.28316	0.996000	0.52242	0.941000	0.58515	0.655000	0.24933	2.191000	0.70037	0.511000	0.50034	CGC		TCGA-IB-7651-01A-11D-2154-08	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	1	0	1	130	407	0	80	1	6.804703e-01	4	5	0	80	2		0	0	0	0	0	2	1	1	130	397	0	78	2								-4.799030	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992401	0.990000	1	9.700000e-01	1
PRMT6	55170	broad.mit.edu	37	1	107599623	107599623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107599623C>A	ENST00000370078.1	+	1	323	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	PRMT6_ENST00000361318.5_Missense_Mutation_p.L37M			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6			14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)			CACCGGCATTCTGAGCATCTT	0.692000																								0							SO:0001583	missense			ENST00000370078.1	1	1	hg19	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363843	0.24684	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.63580	-0.05;-0.05	5.11	4.2	0.49525	.	0.000000	0.64402	D	0.000006	T	0.70736	0.3258	M	0.82630	2.6	0.09310	N	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.65697	-0.6105	10	0.66056	D	0.02	-18.3037	11.3452	0.49556	0.0:0.9125:0.0:0.0875	.	96	Q96LA8	ANM6_HUMAN	M	37;96	ENSP00000355145:L37M;ENSP00000359095:L96M	ENSP00000355145:L37M	L	+	1	2	PRMT6	107401146	0.703000	0.27826	0.025000	0.17156	0.002000	0.02628	1.276000	0.33156	1.377000	0.46286	0.544000	0.68410	CTG		TCGA-IB-7651-01A-11D-2154-08	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	1	0	1	64	201	0	56	1	9.791879e-01	6	16	0	56	2		0	0	0	0	0	2	1	1	62	196	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982158	0.980000	1	9.500000e-01	1
NTNG1	22854	broad.mit.edu	37	1	107973466	107973466	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107973466G>A	ENST00000370068.1	+	6	2028	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370072.3_Silent_p.Q394Q|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1			37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)			CTAGAGGGCAGCACTGTGAGT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000370068.1	1	1	hg19	CCDS44180.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	1	0	0	13	133	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.996143e-01	13	133	0	31	2								-18.677460	1	1	120502	2	33	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.810000	0.500000	0.990000	0.910000	0.801662	0.810000	0	6.500000e-01	9.400000e-01
SLC25A24	29957	broad.mit.edu	37	1	108742604	108742604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:108742604T>C	ENST00000565488.1	-	1	376	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24			16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)			CCCAGAGGGATGCCCAGGTTC	0.721000																								0							SO:0001583	missense			ENST00000565488.1	0	1	hg19	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	T	6.544	0.468702	0.12461	.	.	ENSG00000085491	ENST00000264128	T	0.70986	-0.53	4.65	-4.12	0.03916	EF-hand-like domain (1);	0.297147	0.35739	N	0.003005	T	0.16769	0.0403	N	0.05510	-0.035	0.37003	D	0.895344	B	0.02656	0.0	B	0.04013	0.001	T	0.02498	-1.1150	10	0.10902	T	0.67	-3.313	3.5207	0.07741	0.3651:0.2173:0.0:0.4176	.	53	Q6NUK1	SCMC1_HUMAN	V	53	ENSP00000264128:I53V	ENSP00000264128:I53V	I	-	1	0	SLC25A24	108544127	0.987000	0.35691	0.827000	0.32855	0.003000	0.03518	-0.083000	0.11286	-0.563000	0.06078	-0.714000	0.03626	ATC		TCGA-IB-7651-01A-11D-2154-08	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	1	0	0	10	78	0	17	1	9.969368e-01	13	71	0	17	2		0	0	0	0	0	2	1	9.972832e-01	10	77	0	17	2								-17.423870	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.850000	0.520000	1.000000	0.990000	0.830801	0.850000	1	6.900000e-01	9.600000e-01
PRPF38B	55119	broad.mit.edu	37	1	109235385	109235385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109235385C>A	ENST00000370025.4	+	1	441	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I|PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000467302.1_3'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B			19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)			GACCATGAACCTCAACCCCAT	0.597000																								0							SO:0001583	missense			ENST00000370025.4	0	1	hg19	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237343	0.79800	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.64	2.71	0.32032	.	0.118753	0.64402	D	0.000017	T	0.55593	0.1930	M	0.77103	2.36	0.80722	D	1	P	0.50617	0.937	P	0.56216	0.794	T	0.55211	-0.8176	9	0.31617	T	0.26	.	9.7049	0.40209	0.2528:0.6814:0.0:0.0658	.	58	Q5VTL8	PR38B_HUMAN	I	58	.	ENSP00000359039:L58I	L	+	1	0	PRPF38B	109036908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.724000	0.61972	0.304000	0.22809	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	0	0	0	9	429	0	87	1	5.316318e-01	6	75	0	87	2		0	0	0	0	0	2	1	9.941415e-01	9	426	0	87	2								-4.043116	1	0	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.220000	0.110000	0.390000	0.220000	0.239205	0.220000	0	1.600000e-01	3.100000e-01
PRPF38B	55119	broad.mit.edu	37	1	109241798	109241798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241798C>A	ENST00000370025.4	+	6	1066	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	PRPF38B_ENST00000370021.1_Missense_Mutation_p.S155Y	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B			19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)			CCAAGGAGATCTCTGAGTCCA	0.408000																								0							SO:0001583	missense			ENST00000370025.4	1	1	hg19	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552818	0.65425	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.14516	4.11;2.5	5.39	5.39	0.77823	.	0.122294	0.56097	D	0.000029	T	0.15696	0.0378	L	0.29908	0.895	0.58432	D	0.999999	D	0.61697	0.99	P	0.56398	0.797	T	0.01472	-1.1346	10	0.66056	D	0.02	.	19.5074	0.95125	0.0:1.0:0.0:0.0	.	266	Q5VTL8	PR38B_HUMAN	Y	266;155	ENSP00000359042:S266Y;ENSP00000359038:S155Y	ENSP00000359038:S155Y	S	+	2	0	PRPF38B	109043321	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.283000	0.65621	2.698000	0.92095	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	0	0	0	16	389	0	96	1	9.807491e-01	6	154	0	96	2		0	0	0	0	0	2	1	9.999283e-01	16	383	0	96	2								-3.192340	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.420000	0.250000	0.640000	0.420000	0.438809	0.420000	0	3.300000e-01	5.400000e-01
PRPF38B	55119	broad.mit.edu	37	1	109241961	109241961	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241961T>C	ENST00000370025.4	+	6	1229	c.960T>C	c.(958-960)agT>agC	p.S320S	PRPF38B_ENST00000370021.1_Silent_p.S209S	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B			19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)			GATCCCGAAGTATTGACCGGG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000370025.4	1	1	hg19	CCDS788.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	0	0	1	53	401	1	107	1	9.999470e-01	39	219	1	107	10		0	0	0	0	0	2	1	9.999997e-01	53	398	1	106	15								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.946922	0.950000	1	8.900000e-01	9.900000e-01
AKNAD1	254268	broad.mit.edu	37	1	109394773	109394773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109394773G>A	ENST00000370001.3	-	2	782	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F|AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1			32					TTCGGGTTGAGTTGGTCAGTG	0.423000																								0							SO:0001583	missense			ENST00000370001.3	1	1	hg19	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511189	0.44660	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.09817	2.96;2.99;2.94	5.77	0.065	0.14355	.	0.955217	0.08711	N	0.904928	T	0.03348	0.0097	M	0.63428	1.95	0.09310	N	1	B	0.30326	0.276	B	0.30572	0.117	T	0.44205	-0.9343	10	0.31617	T	0.26	-0.2122	2.1848	0.03883	0.1509:0.3045:0.3494:0.1952	.	172	Q5T1N1	AKND1_HUMAN	F	172	ENSP00000359018:L172F;ENSP00000359011:L172F;ENSP00000359012:L172F	ENSP00000359011:L172F	L	-	1	0	AKNAD1	109196296	0.000000	0.05858	0.041000	0.18516	0.051000	0.14879	-0.152000	0.10159	0.362000	0.24319	-0.878000	0.02970	CTC		TCGA-IB-7651-01A-11D-2154-08	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	1	0	1	119	420	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	117	414	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990835	0.980000	1	9.700000e-01	1
WDR47	22911	broad.mit.edu	37	1	109533934	109533934	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109533934A>G	ENST00000369962.3	-	9	1931	c.1709T>C	c.(1708-1710)gTc>gCc	p.V570A	WDR47_ENST00000361054.3_Missense_Mutation_p.V542A|WDR47_ENST00000369965.4_Missense_Mutation_p.V571A|WDR47_ENST00000357672.3_Missense_Mutation_p.V542A|WDR47_ENST00000400794.3_Missense_Mutation_p.V578A			O94967	WDR47_HUMAN	WD repeat domain 47			20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)			TGGCTTAATGACCGAATGTTC	0.368000																								0							SO:0001583	missense			ENST00000369962.3	1	1	hg19	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145171	0.37825	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.51;0.55;0.5;0.5;0.5	5.23	5.23	0.72850	.	0.481828	0.20274	N	0.095616	T	0.16514	0.0397	N	0.17082	0.46	0.35252	D	0.778798	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.04509	-1.0946	10	0.08381	T	0.77	-2.5593	12.8407	0.57800	1.0:0.0:0.0:0.0	.	542;578;570;571	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	A	578;570;542;571;542	ENSP00000383599:V578A;ENSP00000358979:V570A;ENSP00000354339:V542A;ENSP00000358982:V571A;ENSP00000350301:V542A	ENSP00000350301:V542A	V	-	2	0	WDR47	109335457	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	2.616000	0.46376	2.113000	0.64589	0.524000	0.50904	GTC		TCGA-IB-7651-01A-11D-2154-08	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	1	0	1	30	317	0	125	1	8.161253e-01	4	31	0	125	2		0	0	0	0	0	2	1	1	30	314	0	124	2								-10.289280	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.850000	0.610000	0.990000	0.910000	0.847544	0.850000	1	7.300000e-01	9.500000e-01
WDR47	22911	broad.mit.edu	37	1	109547290	109547290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109547290C>T	ENST00000369962.3	-	6	1400	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	WDR47_ENST00000361054.3_Missense_Mutation_p.G365D|WDR47_ENST00000369965.4_Missense_Mutation_p.G394D|WDR47_ENST00000357672.3_Missense_Mutation_p.G365D|WDR47_ENST00000400794.3_Missense_Mutation_p.G401D			O94967	WDR47_HUMAN	WD repeat domain 47			20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)			TGAACTCTGGCCCAAGATTTC	0.423000																								0							SO:0001583	missense			ENST00000369962.3	1	1	hg19	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114881	0.37339	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.5;0.54;0.5;0.5;0.5	5.58	4.48	0.54585	.	0.685635	0.15061	N	0.282753	T	0.17577	0.0422	N	0.08118	0	0.22280	N	0.999237	B;B;B;B	0.15473	0.013;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.0;0.0;0.0	T	0.13737	-1.0498	10	0.51188	T	0.08	-25.4215	12.4039	0.55428	0.0:0.8018:0.1227:0.0756	.	365;401;393;394	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	401;393;365;394;365	ENSP00000383599:G401D;ENSP00000358979:G393D;ENSP00000354339:G365D;ENSP00000358982:G394D;ENSP00000350301:G365D	ENSP00000350301:G365D	G	-	2	0	WDR47	109348813	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	2.100000	0.41777	2.622000	0.88805	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	1	0	0	75	725	0	139	0	6.268027e-01	1	21	0	139	2		0	0	0	0	0	2	1	1	73	716	0	139	2								-19.655500	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.920000	0.770000	1.000000	0.990000	0.920170	0.920000	1	8.500000e-01	9.800000e-01
WDR47	22911	broad.mit.edu	37	1	109554167	109554167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109554167C>A	ENST00000369962.3	-	5	723	c.501G>T	c.(499-501)gaG>gaT	p.E167D	WDR47_ENST00000361054.3_Missense_Mutation_p.E139D|WDR47_ENST00000369965.4_Missense_Mutation_p.E167D|WDR47_ENST00000357672.3_Missense_Mutation_p.E139D|WDR47_ENST00000400794.3_Missense_Mutation_p.E174D			O94967	WDR47_HUMAN	WD repeat domain 47			20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)			TGACACAAGCCTCTTCAAAAC	0.433000																								0							SO:0001583	missense			ENST00000369962.3	1	1	hg19	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140674	0.56936	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772	T;T;T;T;T	0.58652	0.32;0.37;0.32;0.32;0.32	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.42686	1.345	0.58432	D	0.999996	D;D;D;D	0.69078	0.99;0.997;0.997;0.99	D;D;D;D	0.73380	0.98;0.978;0.978;0.98	T	0.60576	-0.7236	10	0.45353	T	0.12	-5.7323	12.8243	0.57710	0.0:0.9149:0.0:0.0851	.	139;174;167;167	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	174;167;139;167;139;167	ENSP00000383599:E174D;ENSP00000358979:E167D;ENSP00000354339:E139D;ENSP00000358982:E167D;ENSP00000350301:E139D	ENSP00000350301:E139D	E	-	3	2	WDR47	109355690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.446000	0.44908	2.481000	0.83766	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	0	0	1	107	988	1	278	1	7.558372e-01	5	22	1	278	2		0	0	0	0	0	2	1	1	107	961	1	275	15								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.945188	0.950000	1	8.900000e-01	9.900000e-01
KIAA1324	57535	broad.mit.edu	37	1	109714519	109714519	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109714519G>A	ENST00000369939.3	+	4	682	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324			34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)			CGACTACATCGCCTCCAACAC	0.557000																								0							SO:0001583	missense			ENST00000369939.3	1	1	hg19	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	4.897	0.166757	0.09339	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.44083	1.56;0.93;0.93;0.93	5.99	1.81	0.25067	.	0.348105	0.32533	N	0.005968	T	0.14270	0.0345	L	0.40543	1.245	0.23751	N	0.996942	B;B;B;B	0.20671	0.018;0.047;0.011;0.011	B;B;B;B	0.17433	0.006;0.018;0.009;0.009	T	0.30208	-0.9986	10	0.19147	T	0.46	-15.5327	14.3279	0.66532	0.0659:0.0:0.8093:0.1248	.	167;167;167;167	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	167	ENSP00000431349:A167T;ENSP00000358955:A167T;ENSP00000393964:A167T;ENSP00000434595:A167T	ENSP00000358955:A167T	A	+	1	0	KIAA1324	109516042	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	2.737000	0.47393	0.051000	0.15978	-0.127000	0.14921	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	1	0	0	27	275	0	79	0	9.502727e-01	0	53	0	79	2		0	0	0	0	0	2	1	9.999999e-01	26	266	0	76	2								-9.768677	1	1	121412	2	33	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.860000	0.620000	1.000000	0.930000	0.853140	0.860000	1	7.400000e-01	9.600000e-01
CELSR2	1952	broad.mit.edu	37	1	109793139	109793139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109793139G>A	ENST00000271332.3	+	1	499	c.438G>A	c.(436-438)caG>caA	p.Q146Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2			82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)			TCAGATGCCAGTCCTGCAAGC	0.637000													NSCLC(158;1285 2011 34800 34852 42084)											0							SO:0001819	synonymous_variant			ENST00000271332.3	1	1	hg19	CCDS796.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1	36	279	0	61	0	3.843237e-02	1	2	0	61	2		0	0	0	0	0	2	1	1	36	275	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.930000	0.750000	1.000000	0.990000	0.925473	0.930000	1	8.500000e-01	9.900000e-01
CELSR2	1952	broad.mit.edu	37	1	109794810	109794810	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109794810C>T	ENST00000271332.3	+	1	2170	c.2109C>T	c.(2107-2109)acC>acT	p.T703T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2			82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)			TGAATGTCACCGACGCCAACA	0.577000													NSCLC(158;1285 2011 34800 34852 42084)											0							SO:0001819	synonymous_variant			ENST00000271332.3	1	1	hg19	CCDS796.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1	34	283	0	61	1	3.433331e-01	2	9	0	61	2		0	0	0	0	0	2	1	1	33	280	0	61	2								-2.665584	1	1	121410	1	27	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.920000	0.720000	1.000000	0.990000	0.912232	0.920000	1	8.300000e-01	9.800000e-01
CELSR2	1952	broad.mit.edu	37	1	109808459	109808459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109808459C>T	ENST00000271332.3	+	14	5891	c.5830C>T	c.(5830-5832)Cca>Tca	p.P1944S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2			82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)			TGGCCAGTGTCCATGCAAGCC	0.617000													NSCLC(158;1285 2011 34800 34852 42084)											0							SO:0001583	missense			ENST00000271332.3	1	1	hg19	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666778	0.47677	.	.	ENSG00000143126	ENST00000271332	T	0.60424	0.19	4.6	4.6	0.57074	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.23210	0.0561	L	0.27944	0.81	0.43426	D	0.995586	B	0.14012	0.009	B	0.19666	0.026	T	0.06303	-1.0834	9	0.07990	T	0.79	.	11.7701	0.51953	0.0:0.9136:0.0:0.0864	.	1944	Q9HCU4	CELR2_HUMAN	S	1944	ENSP00000271332:P1944S	ENSP00000271332:P1944S	P	+	1	0	CELSR2	109609982	0.772000	0.28567	0.997000	0.53966	0.984000	0.73092	5.881000	0.69706	2.387000	0.81309	0.462000	0.41574	CCA		TCGA-IB-7651-01A-11D-2154-08	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1	52	178	0	65	0	4.978259e-01	1	6	0	65	2		0	0	0	0	0	2	1	1	50	175	0	64	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.976528	0.970000	1	9.400000e-01	1
CELSR2	1952	broad.mit.edu	37	1	109811248	109811248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811248C>T	ENST00000271332.3	+	18	6425	c.6364C>T	c.(6364-6366)Cgg>Tgg	p.R2122W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2			82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)			AGCCAACAAGCGGCACTGGGA	0.652000													NSCLC(158;1285 2011 34800 34852 42084)											0							SO:0001583	missense			ENST00000271332.3	1	1	hg19	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620167	0.66787	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.09911	2.93	4.9	3.96	0.45880	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.10035	0.0246	N	0.22421	0.69	0.35826	D	0.824974	D	0.76494	0.999	D	0.68765	0.96	T	0.07214	-1.0784	9	0.72032	D	0.01	.	11.3079	0.49347	0.1458:0.7219:0.1323:0.0	.	2122	Q9HCU4	CELR2_HUMAN	W	2122	ENSP00000271332:R2122W	ENSP00000271332:R2122W	R	+	1	2	CELSR2	109612771	0.770000	0.28543	1.000000	0.80357	0.995000	0.86356	0.632000	0.24583	1.248000	0.43934	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	0	20	196	0	48	0	2.508012e-01	0	10	0	48	2		0	0	0	0	0	2	1	9.999956e-01	18	194	0	47	2								-3.017765	1	1	121408	26	42	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.850000	0.580000	1.000000	0.960000	0.844220	0.850000	1	7.200000e-01	9.600000e-01
CELSR2	1952	broad.mit.edu	37	1	109811858	109811858	+	Missense_Mutation	SNP	G	G	A	rs150344250		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811858G>A	ENST00000271332.3	+	20	6819	c.6758G>A	c.(6757-6759)cGc>cAc	p.R2253H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2			82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)			ATCATCTACCGCACCCTGGCC	0.672000													NSCLC(158;1285 2011 34800 34852 42084)											0							SO:0001583	missense			ENST00000271332.3	1	1	hg19	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358225	0.41801	0.0	0.001279	ENSG00000143126	ENST00000271332	T	0.11821	2.74	4.63	3.7	0.42460	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.03390	0.0098	N	0.25201	0.72	0.29053	N	0.884409	B	0.26400	0.148	B	0.22753	0.041	T	0.38045	-0.9679	9	0.33940	T	0.23	.	11.5909	0.50945	0.0893:0.0:0.9107:0.0	.	2253	Q9HCU4	CELR2_HUMAN	H	2253	ENSP00000271332:R2253H	ENSP00000271332:R2253H	R	+	2	0	CELSR2	109613381	0.998000	0.40836	1.000000	0.80357	0.857000	0.48899	3.856000	0.55964	1.156000	0.42514	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1	31	262	0	55	1	3.380897e-01	3	8	0	55	2		0	0	0	0	0	2	1	1	31	261	0	55	2								-7.442710	1	1	121384	93	49	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.910000	0.700000	1.000000	0.990000	0.904291	0.910000	1	8.200000e-01	9.800000e-01
CELSR2	1952	broad.mit.edu	37	1	109815515	109815515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109815515C>T	ENST00000271332.3	+	31	8265	c.8204C>T	c.(8203-8205)gCc>gTc	p.A2735V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2			82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)			GGCTCCTATGCCTCTACCCAC	0.607000													NSCLC(158;1285 2011 34800 34852 42084)											0							SO:0001583	missense			ENST00000271332.3	1	1	hg19	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577470	0.86645	.	.	ENSG00000143126	ENST00000271332	T	0.75154	-0.91	4.7	4.7	0.59300	.	.	.	.	.	T	0.77579	0.4151	M	0.67397	2.05	0.50632	D	0.999886	D	0.67145	0.996	P	0.57679	0.825	T	0.80723	-0.1255	9	0.72032	D	0.01	.	14.261	0.66085	0.0:0.8499:0.1501:0.0	.	2735	Q9HCU4	CELR2_HUMAN	V	2735	ENSP00000271332:A2735V	ENSP00000271332:A2735V	A	+	2	0	CELSR2	109617038	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.664000	0.46783	2.443000	0.82685	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	1	39	303	0	66	1	6.821984e-01	4	16	0	66	2		0	0	0	0	0	2	1	1	39	293	0	63	2								-3.221890	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.940000	0.760000	1.000000	0.990000	0.929416	0.940000	1	8.600000e-01	9.900000e-01
MYBPHL	343263	broad.mit.edu	37	1	109838933	109838933	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109838933T>C	ENST00000357155.1	-	6	839	c.790A>G	c.(790-792)Acc>Gcc	p.T264A	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like			14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)			AGAGGCTGGGTAAACTTTGGG	0.587000																								0							SO:0001583	missense			ENST00000357155.1	1	0	hg19	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612854	0.87258	.	.	ENSG00000221986	ENST00000357155	T	0.74526	-0.85	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72120	0.3421	M	0.85373	2.75	0.49389	D	0.999782	P;P	0.38167	0.619;0.621	B;B	0.44133	0.442;0.394	T	0.73193	-0.4060	9	0.27082	T	0.32	.	12.723	0.57152	0.0:0.0:0.0:1.0	.	241;264	B7ZME5;A2RUH7	.;MBPHL_HUMAN	A	264	ENSP00000349678:T264A	ENSP00000349678:T264A	T	-	1	0	MYBPHL	109640456	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.463000	0.80869	2.116000	0.64780	0.459000	0.35465	ACC		TCGA-IB-7651-01A-11D-2154-08	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	0	0	1	71	557	1	103		0	0	0	1	103	2		0	0	0	0	0	2	1	1	68	543	1	102	20								-0.832717	0	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.954854	0.960000	1	9.000000e-01	9.900000e-01
SORT1	6272	broad.mit.edu	37	1	109859483	109859483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109859483G>A	ENST00000256637.6	-	17	2297	c.2239C>T	c.(2239-2241)Ccg>Tcg	p.P747S	SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1			26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)			TGTTTTTCCGGACTCAAAAAG	0.373000																								0							SO:0001583	missense			ENST00000256637.6	1	1	hg19	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313533	0.40996	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.14266	2.52;2.55	5.65	4.7	0.59300	.	0.412269	0.26757	N	0.022655	T	0.02380	0.0073	N	0.12182	0.205	0.47276	D	0.999379	B;B	0.20261	0.019;0.043	B;B	0.11329	0.003;0.006	T	0.40001	-0.9586	10	0.20046	T	0.44	-5.7976	8.1127	0.30924	0.1928:0.0:0.8072:0.0	.	610;747	B4DWI3;Q99523	.;SORT_HUMAN	S	747;610	ENSP00000256637:P747S;ENSP00000438597:P610S	ENSP00000256637:P747S	P	-	1	0	SORT1	109661006	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.323000	0.65858	1.295000	0.44724	-0.345000	0.07892	CCG		TCGA-IB-7651-01A-11D-2154-08	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	1	0	0	60	435	0	108	1	1	26	230	0	108	2		0	0	0	0	0	2	1	1	59	429	0	107	2								-19.998840	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.955846	0.960000	1	9.100000e-01	9.900000e-01
PSMA5	5686	broad.mit.edu	37	1	109954798	109954798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109954798C>T	ENST00000271308.4	-	5	320	c.300G>A	c.(298-300)tgG>tgA	p.W100*	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5			5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)			TGTAGGTGAACCAGTGGTTCT	0.468000																								0							SO:0001587	stop_gained			ENST00000271308.4	0	1	hg19	CCDS799.1	.	.	.	.	.	.	.	.	.	.	c	29.6	5.020195	0.93462	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.0842	18.9585	0.92670	0.0:1.0:0.0:0.0	.	.	.	.	X	42;100	.	.	W	-	3	0	PSMA5	109756321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.795000	0.85887	2.772000	0.95346	0.651000	0.88453	TGG		TCGA-IB-7651-01A-11D-2154-08	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	1	0	0	19	251	0	62	1	1	13	674	0	62	2		0	0	0	0	0	2	1	9.999903e-01	19	245	0	61	2								-6.844612	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.730000	0.460000	0.970000	0.730000	0.735066	0.730000	0	5.800000e-01	8.800000e-01
ATXN7L2	127002	broad.mit.edu	37	1	110031538	110031538	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110031538C>A	ENST00000369870.3	+	7	868	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2			17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)			GGTGGCAGAGCTGAAGGCCAA	0.627000																								0							SO:0001583	missense			ENST00000369870.3	1	1	hg19	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286534	0.59867	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.35421	1.31	5.72	4.82	0.62117	SCA7 domain (2);	0.000000	0.47093	D	0.000246	T	0.28928	0.0718	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13045	-1.0524	10	0.35671	T	0.21	-7.1685	8.7501	0.34611	0.0:0.8294:0.0:0.1706	.	285	Q5T6C5	AT7L2_HUMAN	M	285	ENSP00000358886:L285M	ENSP00000358886:L285M	L	+	1	2	ATXN7L2	109833061	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.513000	0.35823	1.424000	0.47217	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	1	0	0	16	330	0	51	0	1.846252e-01	1	15	0	51	2		0	0	0	0	0	2	1	9.999232e-01	15	322	0	49	2								-4.777478	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.490000	0.290000	0.750000	0.480000	0.510862	0.490000	0	3.800000e-01	6.200000e-01
C1orf127	148345	broad.mit.edu	37	1	11008344	11008344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11008344C>T	ENST00000377008.4	-	11	1793	c.1347G>A	c.(1345-1347)acG>acA	p.T449T	C1orf127_ENST00000377004.4_Silent_p.T616T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127			32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)		TTCCAGAGCACGTTTCCTGGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000377008.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103869	0.06967	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.9	-6.74	0.01743	.	.	.	.	.	T	0.27798	0.0684	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-1.6694	8.9166	0.35585	0.0:0.5712:0.1442:0.2846	.	.	.	.	H	451;568	.	.	R	-	2	0	C1orf127	10930931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.274000	0.02820	-1.442000	0.01955	-1.855000	0.00564	CGT		TCGA-IB-7651-01A-11D-2154-08	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	48	558	1	116	0	1.611508e-01	0	9	1	116	2		0	0	0	0	0	2	1	1	47	547	0	116	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.820000	0.620000	0.980000	0.840000	0.828459	0.820000	0	7.200000e-01	9.300000e-01
GPR61	83873	broad.mit.edu	37	1	110085846	110085846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110085846G>A	ENST00000527748.1	+	2	885	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61			23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)			GGCCGTGATCGCCAAGACGCC	0.607000																								0							SO:0001583	missense			ENST00000527748.1	1	1	hg19	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566256	0.27915	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36699	1.24	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.060511	0.64402	D	0.000003	T	0.12433	0.0302	L	0.31752	0.955	0.45806	D	0.998682	B	0.31599	0.33	B	0.24394	0.053	T	0.06427	-1.0827	10	0.46703	T	0.11	-8.7647	8.7371	0.34534	0.0806:0.1531:0.7663:0.0	.	68	Q9BZJ8	GPR61_HUMAN	T	68;196	ENSP00000432456:A68T	ENSP00000286603:A196T	A	+	1	0	GPR61	109887369	0.851000	0.29673	0.952000	0.39060	0.679000	0.39708	1.313000	0.33585	2.479000	0.83701	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1	0	0	1	142	565	1	125		0	0	0	1	125	2		0	0	0	0	0	2	1	1	137	550	1	122	19								-3.410548	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991954	0.990000	1	9.700000e-01	1
GNAI3	2773	broad.mit.edu	37	1	110116530	110116530	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110116530G>A	ENST00000369851.4	+	3	284	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3			12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)			TCATTCATGAGGATGGCTATT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000369851.4	1	1	hg19	CCDS802.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	1	0	0	49	203	0	48	1	1	84	190	0	48	2	0	0	0	1	0	4	2	1	1	49	201	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.971878	0.970000	1	9.300000e-01	1
GSTM2	2946	broad.mit.edu	37	1	110211562	110211562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110211562G>A	ENST00000241337.4	+	3	178	c.128G>A	c.(127-129)aGa>aAa	p.R43K	GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000369831.2_Missense_Mutation_p.R43K|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K|GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)			11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Glutathione(DB00143)	GATTATGACAGAAGCCAGTGG	0.552000																								0							SO:0001583	missense			ENST00000241337.4	1	1	hg19	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458687	0.26248	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	3.27	2.27	0.28462	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.286703	0.31660	N	0.007277	T	0.08626	0.0214	N	0.16602	0.42	0.24752	N	0.992977	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.002;0.008;0.005	T	0.25572	-1.0128	10	0.33141	T	0.24	.	4.9241	0.13885	0.3218:0.0:0.6782:0.0	.	43;43;43	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	43;41;43;43;43;43;43	ENSP00000416883:R43K;ENSP00000358842:R41K;ENSP00000358846:R43K;ENSP00000435910:R43K;ENSP00000435157:R43K;ENSP00000358844:R43K;ENSP00000241337:R43K	ENSP00000241337:R43K	R	+	2	0	GSTM2	110013085	0.919000	0.31177	1.000000	0.80357	0.908000	0.53690	0.480000	0.22244	0.616000	0.30141	0.454000	0.30748	AGA		TCGA-IB-7651-01A-11D-2154-08	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	1	0	1	66	237	0	74	1	9.991703e-01	9	32	0	74	2		0	0	0	0	0	2	1	1	65	222	0	93	2								-4.005969	1	1	121412	1	31	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981419	0.980000	1	9.500000e-01	1
EPS8L3	79574	broad.mit.edu	37	1	110294717	110294717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110294717C>T	ENST00000361965.4	-	15	1440	c.1334G>A	c.(1333-1335)aGc>aAc	p.S445N	EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.S446N	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3			32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)			AGGTTTGGGGCTGGAGGGCCT	0.577000																								0							SO:0001583	missense			ENST00000361965.4	1	1	hg19	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612777	0.46631	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.30182	1.54;1.54;1.54	5.49	0.0683	0.14369	Src homology-3 domain (1);	2.026650	0.01513	N	0.018038	T	0.14700	0.0355	L	0.50333	1.59	0.09310	N	1	P;P;P	0.46142	0.804;0.704;0.873	B;B;P	0.47346	0.36;0.255;0.544	T	0.05500	-1.0881	10	0.22109	T	0.4	-2.3711	4.5838	0.12271	0.0:0.4336:0.3061:0.2603	.	415;445;446	Q8TE67-2;Q8TE67;Q8TE67-3	.;ES8L3_HUMAN;.	N	415;446;445	ENSP00000354551:S415N;ENSP00000358820:S446N;ENSP00000355255:S445N	ENSP00000354551:S415N	S	-	2	0	EPS8L3	110096240	0.058000	0.20735	0.003000	0.11579	0.019000	0.09904	0.822000	0.27352	0.028000	0.15324	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	1	0	1	194	787	0	187	1	1	330	187	0	187	2		0	0	0	0	0	2	1	1	190	756	0	185	2								-2.970759	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994523	0.990000	1	9.800000e-01	1
CSF1	1435	broad.mit.edu	37	1	110466000	110466000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110466000C>T	ENST00000329608.6	+	6	1148	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)			20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)			CAAGCAGCGGCCACCCAGGAG	0.652000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000329608.6	1	1	hg19	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164293	0.38217	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.42	3.43	0.39272	.	0.298004	0.23547	N	0.047009	T	0.46386	0.1390	M	0.63428	1.95	0.32806	D	0.500822	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.96	T	0.34551	-0.9824	10	0.32370	T	0.25	.	12.0079	0.53270	0.0:0.8257:0.1743:0.0	.	253;253	P09603;P09603-2	CSF1_HUMAN;.	S	253;253;212;253;253	ENSP00000342718:P253S;ENSP00000327513:P253S;ENSP00000433837:P212S;ENSP00000358817:P253S;ENSP00000358816:P253S	ENSP00000327513:P253S	P	+	1	0	CSF1	110267523	0.587000	0.26791	1.000000	0.80357	0.353000	0.29299	0.357000	0.20199	2.152000	0.67230	0.313000	0.20887	CCA		TCGA-IB-7651-01A-11D-2154-08	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	1	0	1	52	340	0	75	0	9.976866e-01	0	62	0	75	2		0	0	0	0	0	2	1	1	50	333	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.957746	0.960000	1	9.100000e-01	1
AHCYL1	10768	broad.mit.edu	37	1	110555585	110555585	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110555585A>C	ENST00000369799.5	+	5	911	c.544A>C	c.(544-546)Act>Cct	p.T182P	AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1			18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			CATCTACTCAACTCAGAATGA	0.473000																								0							SO:0001583	missense			ENST00000369799.5	1	1	hg19	CCDS818.1	.	.	.	.	.	.	.	.	.	.	A	34	5.306786	0.95629	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.82526	-1.62;-1.62;-1.62	6.07	6.07	0.98685	S-adenosyl-L-homocysteine hydrolase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94951	0.8367	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97115	0.9807	10	0.87932	D	0	-17.5851	16.6406	0.85098	1.0:0.0:0.0:0.0	.	182	O43865	SAHH2_HUMAN	P	182;135;135	ENSP00000358814:T182P;ENSP00000352092:T135P;ENSP00000377238:T135P	ENSP00000352092:T135P	T	+	1	0	AHCYL1	110357108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.313000	0.96297	2.326000	0.78906	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1	1	0	1	31	130	0	38	1	1	103	173	0	38	2		0	0	0	0	0	2	1	1	31	126	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.955346	0.960000	1	9.000000e-01	1
SLC6A17	388662	broad.mit.edu	37	1	110716645	110716645	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110716645C>A	ENST00000331565.4	+	4	980	c.495C>A	c.(493-495)atC>atA	p.I165I	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17			37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			GGTGGAGCATCTTCTATTTCT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000331565.4	1	1	hg19	CCDS30799.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	1	0	0	61	648	0	135	0	2.486434e-01	0	11	0	135	2		0	0	0	0	0	2	1	1	60	632	0	134	2								-15.812890	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.880000	0.700000	1.000000	0.910000	0.878918	0.880000	1	7.900000e-01	9.600000e-01
SLC6A17	388662	broad.mit.edu	37	1	110719341	110719341	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110719341C>T	ENST00000331565.4	+	6	1329	c.844C>T	c.(844-846)Cta>Tta	p.L282L	RP5-1028L10.2_ENST00000440688.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17			37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			TGATGGCATCCTACACATGTT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000331565.4	1	1	hg19	CCDS30799.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	1	0	0	42	444	0	102	0	2.190626e-01	0	10	0	102	2		0	0	0	0	0	2	1	1	42	432	0	99	2								-2.774725	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.870000	0.660000	0.990000	0.910000	0.864659	0.870000	1	7.600000e-01	9.600000e-01
SLC6A17	388662	broad.mit.edu	37	1	110738297	110738297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110738297G>A	ENST00000331565.4	+	10	2067	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17			37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			TGACTACTCGGCCACCCTGCC	0.532000																								0							SO:0001583	missense			ENST00000331565.4	1	1	hg19	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909396	0.97093	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77877	-1.13	5.65	5.65	0.86999	.	0.102844	0.64402	D	0.000002	D	0.87366	0.6159	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88080	0.2806	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	528	Q9H1V8	S6A17_HUMAN	T	528	ENSP00000330199:A528T	ENSP00000330199:A528T	A	+	1	0	SLC6A17	110539820	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	1	0	0	14	306	0	64	0	4.042650e-02	0	7	0	64	2		0	0	0	0	0	2	1	9.997197e-01	13	299	0	64	2								-2.920853	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.470000	0.270000	0.730000	0.460000	0.486042	0.470000	0	3.600000e-01	6.000000e-01
SLC6A17	388662	broad.mit.edu	37	1	110741029	110741029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110741029G>A	ENST00000331565.4	+	12	2632	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17			37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			TATGGGAGCGGCTACCTGCTG	0.672000																								0							SO:0001583	missense			ENST00000331565.4	1	1	hg19	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511293	0.85389	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75154	-0.91	4.51	4.51	0.55191	.	0.385030	0.26156	N	0.026015	T	0.78704	0.4325	L	0.52573	1.65	0.58432	D	0.999996	D	0.71674	0.998	D	0.65443	0.935	T	0.82145	-0.0602	10	0.87932	D	0	.	17.1979	0.86898	0.0:0.0:1.0:0.0	.	716	Q9H1V8	S6A17_HUMAN	D	716	ENSP00000330199:G716D	ENSP00000330199:G716D	G	+	2	0	SLC6A17	110542552	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.098000	0.94202	2.053000	0.61076	0.313000	0.20887	GGC		TCGA-IB-7651-01A-11D-2154-08	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	1	0	1	61	483	0	97	0	1.028612e-01	0	5	0	97	2		0	0	0	0	0	2	1	1	61	477	0	96	2								-3.318794	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.947902	0.950000	1	8.900000e-01	9.900000e-01
KCNC4	3749	broad.mit.edu	37	1	110766034	110766034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766034C>T	ENST00000369787.3	+	2	1154	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.A376V	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4			32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			ACCCTGAGGGCCAGCACCAAT	0.617000																								0							SO:0001583	missense			ENST00000369787.3	1	1	hg19	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866427	0.91511	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98732	-5.1;-5.1;-5.1	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.98718	1.0707	10	0.72032	D	0.01	.	18.4936	0.90856	0.0:1.0:0.0:0.0	.	376;376;376	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	V	376	ENSP00000358802:A376V;ENSP00000388029:A376V;ENSP00000393655:A376V	ENSP00000358802:A376V	A	+	2	0	KCNC4	110567557	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.776000	0.85560	2.445000	0.82738	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	1	0	1	33	285	0	46	1	9.902820e-01	28	37	0	46	2		0	0	0	0	0	2	1	1	33	282	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.910000	0.710000	1.000000	0.990000	0.904259	0.910000	1	8.200000e-01	9.800000e-01
KCNC4	3749	broad.mit.edu	37	1	110766507	110766507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766507G>A	ENST00000369787.3	+	2	1627	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.E534K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4			32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			GGGTATGATCGAGAGGAAACG	0.577000																								0							SO:0001583	missense			ENST00000369787.3	1	1	hg19	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520122	0.44866	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97772	-4.53;-4.48;-4.48	5.03	4.12	0.48240	.	1.876610	0.02862	N	0.130416	D	0.94820	0.8327	M	0.67397	2.05	0.36759	D	0.883189	B;B;P	0.34892	0.12;0.155;0.474	B;B;B	0.24269	0.009;0.014;0.052	D	0.86509	0.1808	10	0.52906	T	0.07	.	13.4512	0.61172	0.0775:0.0:0.9225:0.0	.	534;534;534	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	K	534	ENSP00000358802:E534K;ENSP00000388029:E534K;ENSP00000393655:E534K	ENSP00000358802:E534K	E	+	1	0	KCNC4	110568030	1.000000	0.71417	0.846000	0.33378	0.942000	0.58702	3.378000	0.52432	1.268000	0.44264	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	1	0	1	29	228	0	46	1	9.993637e-01	20	72	0	46	2		0	0	0	0	0	2	1	1	29	227	0	46	2								-20.000000	1	1	121396	2	31	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.920000	0.720000	1.000000	0.990000	0.911181	0.920000	1	8.300000e-01	9.800000e-01
TARDBP	23435	broad.mit.edu	37	1	11082189	11082189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11082189G>A	ENST00000240185.3	+	6	837	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TARDBP_ENST00000315091.3_Silent_p.Q241Q|TARDBP_ENST00000439080.2_Silent_p.Q125Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein			11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)		AGATTGCGCAGTCTCTTTGTG	0.333000																								0							SO:0001819	synonymous_variant			ENST00000240185.3	1	1	hg19	CCDS122.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	1	0	1	34	307	0	81	1	1	68	326	0	81	2		0	0	0	0	0	2	1	1	33	299	0	81	2								-12.654920	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.900000	0.700000	1.000000	0.990000	0.897397	0.900000	1	8.100000e-01	9.800000e-01
RBM15	64783	broad.mit.edu	37	1	110882330	110882330	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882330C>T	ENST00000369784.3	+	1	1203	c.303C>T	c.(301-303)gaC>gaT	p.D101D	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.D101D|RBM15_ENST00000602849.1_Silent_p.D101D	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15			3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)			TCCACCTGGACAAGTCCAGCA	0.607000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0							SO:0001819	synonymous_variant			ENST00000369784.3	1	1	hg19	CCDS822.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	1	0	0	11	180	0	35	1	3.738775e-01	3	18	0	35	2		0	0	0	0	0	2	1	9.982934e-01	10	177	0	33	2								-14.698790	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.600000	0.320000	0.920000	0.590000	0.622010	0.600000	0	4.500000e-01	7.800000e-01
RBM15	64783	broad.mit.edu	37	1	110882581	110882581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882581C>T	ENST00000369784.3	+	1	1454	c.554C>T	c.(553-555)gCg>gTg	p.A185V	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.A185V|RBM15_ENST00000602849.1_Missense_Mutation_p.A185V	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15			3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)			AGTGACGAAGCGGTGGAGGAC	0.597000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0							SO:0001583	missense			ENST00000369784.3	1	1	hg19	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970749	0.34754	.	.	ENSG00000162775	ENST00000369784	T	0.17691	2.26	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.46442	D	0.000284	T	0.04679	0.0127	N	0.12569	0.235	0.53005	D	0.99996	D;D	0.56521	0.976;0.96	B;B	0.40134	0.32;0.238	T	0.40590	-0.9555	10	0.13108	T	0.6	-9.2181	18.5182	0.90942	0.0:1.0:0.0:0.0	.	185;185	Q96T37-3;Q96T37	.;RBM15_HUMAN	V	185	ENSP00000358799:A185V	ENSP00000358799:A185V	A	+	2	0	RBM15	110684104	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.941000	0.49011	2.706000	0.92434	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	1	0	1	51	394	0	66	0	2.824329e-01	1	8	0	66	2		0	0	0	0	0	2	1	1	50	390	0	65	2								-18.717510	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.943024	0.950000	1	8.800000e-01	9.900000e-01
RBM15	64783	broad.mit.edu	37	1	110884176	110884176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110884176C>T	ENST00000369784.3	+	1	3049	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15			3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)			GGGTGACAAGCGAGACCGTAA	0.502000			T	MKL1	acute megakaryocytic leukemia										Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0							SO:0001587	stop_gained			ENST00000369784.3	0	1	hg19	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	46	12.690748	0.99688	.	.	ENSG00000162775	ENST00000369784	.	.	.	4.87	2.85	0.33270	.	0.000000	0.37012	N	0.002291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.793	13.5867	0.61935	0.2815:0.7185:0.0:0.0	.	.	.	.	X	717	.	ENSP00000358799:R717X	R	+	1	2	RBM15	110685699	0.623000	0.27094	1.000000	0.80357	0.999000	0.98932	1.148000	0.31614	1.234000	0.43709	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	1	0	0	28	342	0	82	1	5.144687e-01	3	19	0	82	2		0	0	0	0	0	2	1	1	28	340	0	81	2								-8.744296	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.780000	0.540000	0.980000	0.790000	0.785734	0.780000	0	6.500000e-01	9.100000e-01
MASP2	10747	broad.mit.edu	37	1	11090932	11090932	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11090932G>A	ENST00000400897.3	-	9	1110	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2			23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)		GAGGGCCACAGTCAACAACTA	0.507000													GBM(35;611 746 20780 22741 36496)											0							SO:0001819	synonymous_variant			ENST00000400897.3	1	1	hg19	CCDS123.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	0	0	0	8	171	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.874992e-01	8	162	0	49	2								-10.835010	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.480000	0.230000	0.820000	0.460000	0.503327	0.480000	0	3.400000e-01	6.600000e-01
KCNA10	3744	broad.mit.edu	37	1	111060647	111060647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060647G>T	ENST00000369771.2	-	1	1150	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10			35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Dalfampridine(DB06637)	CTCATGTTGAGATTGGGGTCT	0.542000																								0							SO:0001583	missense			ENST00000369771.2	1	1	hg19	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067166	0.01934	.	.	ENSG00000143105	ENST00000369771	D	0.96856	-4.15	5.8	1.72	0.24424	.	.	.	.	.	D	0.83626	0.5295	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74503	-0.3644	9	0.34782	T	0.22	.	5.0872	0.14689	0.0704:0.1144:0.3314:0.4838	.	255	Q16322	KCA10_HUMAN	I	255	ENSP00000358786:L255I	ENSP00000358786:L255I	L	-	1	0	KCNA10	110862170	0.026000	0.19158	0.178000	0.23040	0.216000	0.24613	0.509000	0.22707	0.064000	0.16427	-0.152000	0.13540	CTC		TCGA-IB-7651-01A-11D-2154-08	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	1	0	1	50	414	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	49	400	0	104	2								-17.482910	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.933267	0.940000	1	8.700000e-01	9.900000e-01
KCNA10	3744	broad.mit.edu	37	1	111060769	111060769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060769G>A	ENST00000369771.2	-	1	1028	c.641C>T	c.(640-642)gCt>gTt	p.A214V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10			35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Dalfampridine(DB06637)	AGCACGGGCAGCGCTGGAACT	0.552000																								0							SO:0001583	missense			ENST00000369771.2	1	1	hg19	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669436	0.29693	.	.	ENSG00000143105	ENST00000369771	T	0.63255	-0.03	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.83483	2.645	0.53005	D	0.999964	D	0.89917	1.0	D	0.83275	0.996	T	0.80039	-0.1549	10	0.62326	D	0.03	.	14.0696	0.64852	0.0728:0.0:0.9272:0.0	.	214	Q16322	KCA10_HUMAN	V	214	ENSP00000358786:A214V	ENSP00000358786:A214V	A	-	2	0	KCNA10	110862292	1.000000	0.71417	0.124000	0.21820	0.088000	0.18126	8.023000	0.88764	1.509000	0.48786	-0.137000	0.14449	GCT		TCGA-IB-7651-01A-11D-2154-08	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	1	0	1	67	225	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	67	223	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982438	0.980000	1	9.500000e-01	1
KCNA10	3744	broad.mit.edu	37	1	111060913	111060913	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060913A>C	ENST00000369771.2	-	1	884	c.497T>G	c.(496-498)aTc>aGc	p.I166S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10			35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Dalfampridine(DB06637)	ATAGAAGGAGATTTCATCAGC	0.488000																								0							SO:0001583	missense			ENST00000369771.2	1	1	hg19	CCDS826.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801845	0.70682	.	.	ENSG00000143105	ENST00000369771	T	0.79141	-1.24	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.049923	0.85682	D	0.000000	D	0.89996	0.6877	H	0.94964	3.605	0.58432	D	0.999999	D	0.53462	0.96	D	0.72338	0.977	D	0.92567	0.6063	10	0.87932	D	0	.	15.1961	0.73088	1.0:0.0:0.0:0.0	.	166	Q16322	KCA10_HUMAN	S	166	ENSP00000358786:I166S	ENSP00000358786:I166S	I	-	2	0	KCNA10	110862436	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.257000	0.74773	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	1	0	1	69	257	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	68	255	0	89	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.981906	0.980000	1	9.500000e-01	1
KCNA3	3738	broad.mit.edu	37	1	111216054	111216054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216054C>T	ENST00000369769.2	-	1	1601	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3			38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Dalfampridine(DB06637)	AGAGATCCCACAATCTTGCCC	0.537000																								0							SO:0001583	missense			ENST00000369769.2	1	1	hg19	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147156	0.77888	.	.	ENSG00000177272	ENST00000369769	D	0.98567	-5.0	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.99269	0.9745	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99346	1.0913	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	460	P22001	KCNA3_HUMAN	M	460	ENSP00000358784:V460M	ENSP00000358784:V460M	V	-	1	0	KCNA3	111017577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	1	0	1	59	228	0	72	0	6.926894e-01	0	11	0	72	2		0	0	0	0	0	2	1	1	59	226	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977970	0.980000	1	9.500000e-01	1
KCNA3	3738	broad.mit.edu	37	1	111216303	111216303	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216303G>A	ENST00000369769.2	-	1	1352	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3			38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Dalfampridine(DB06637)	TGGCGCGACAGCTTGAAGATG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000369769.2	1	1	hg19	CCDS828.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	1	0	0	50	511	0	132	0	2.960524e-01	0	12	0	132	2		0	0	0	0	0	2	1	1	49	504	0	132	2								-14.120510	1	0	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.890000	0.690000	1.000000	0.940000	0.884904	0.890000	1	7.900000e-01	9.700000e-01
EXOSC10	5394	broad.mit.edu	37	1	11142806	11142806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11142806G>T	ENST00000376936.4	-	10	1268	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M|EXOSC10_ENST00000544779.1_Missense_Mutation_p.L407M|EXOSC10_ENST00000485606.1_5'Flank	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10			27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			TAGAGTTTCAGGAGATGATCG	0.463000													Colon(179;105 1987 14326 27364 29542)											0							SO:0001583	missense			ENST00000376936.4	1	1	hg19	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918451	0.73098	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.65178	-0.14;-0.14;-0.14	6.07	4.19	0.49359	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.86097	2.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.977;0.987	T	0.82651	-0.0352	10	0.66056	D	0.02	-16.9186	12.3392	0.55085	0.1378:0.0:0.8622:0.0	.	407;407	Q01780-2;Q01780	.;EXOSX_HUMAN	M	407	ENSP00000366135:L407M;ENSP00000307307:L407M;ENSP00000439473:L407M	ENSP00000307307:L407M	L	-	1	2	EXOSC10	11065393	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.187000	0.58344	1.572000	0.49736	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	1	0	1	79	595	0	144	1	9.999984e-01	23	119	0	144	2		0	0	0	0	0	2	1	1	78	585	0	143	2								-3.221883	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.960000	0.860000	1.000000	0.990000	0.962444	0.960000	1	9.200000e-01	1
EXOSC10	5394	broad.mit.edu	37	1	11151608	11151608	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11151608G>T	ENST00000376936.4	-	4	468	c.419C>A	c.(418-420)cCt>cAt	p.P140H	EXOSC10_ENST00000544779.1_Missense_Mutation_p.P140H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P140H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10			27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			AGGGAGGACAGGCTGTTGATT	0.468000													Colon(179;105 1987 14326 27364 29542)											0							SO:0001583	missense			ENST00000376936.4	1	1	hg19	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970680	0.74246	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.928	D	0.83870	0.0273	9	0.72032	D	0.01	-19.5432	19.5478	0.95307	0.0:0.0:1.0:0.0	.	140;140	Q01780-2;Q01780	.;EXOSX_HUMAN	H	140	.	ENSP00000307307:P140H	P	-	2	0	EXOSC10	11074195	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.022000	0.93678	2.868000	0.98415	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	0	0	0	8	225	0	67	1	9.678279e-01	13	159	0	67	2		0	0	0	0	0	2	1	9.877183e-01	8	215	0	66	2								-3.359480	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.370000	0.170000	0.650000	0.360000	0.394960	0.370000	0	2.600000e-01	5.200000e-01
TTLL10	254173	broad.mit.edu	37	1	1115463	1115463	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1115463G>A	ENST00000379290.1	+	6	422	c.249G>A	c.(247-249)cgG>cgA	p.R83R	TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10_ENST00000379289.1_Silent_p.R83R|TTLL10-AS1_ENST00000379317.1_RNA			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10			7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			AGGGACTCCGGTGTCAGCCAA	0.701000																								0							SO:0001819	synonymous_variant			ENST00000379290.1	1	1	hg19	CCDS44036.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	1	0	0	28	78	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	1	28	78	0	16	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.959457	0.960000	1	9.100000e-01	1
CEPT1	10390	broad.mit.edu	37	1	111690517	111690517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111690517C>T	ENST00000545121.1	+	2	389	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1			8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Choline(DB00122)	AAGTGCTGGACGGTCCCTGCT	0.448000																								0							SO:0001583	missense			ENST00000545121.1	1	1	hg19	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319614	0.81469	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.47869	0.83;0.83	5.3	4.38	0.52667	.	0.059906	0.64402	D	0.000002	T	0.47857	0.1468	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.71674	0.998;0.96	P;P	0.59115	0.852;0.586	T	0.54057	-0.8350	10	0.66056	D	0.02	-23.4159	10.9488	0.47317	0.3405:0.6595:0.0:0.0	.	61;61	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	W	61	ENSP00000441980:R61W;ENSP00000349696:R61W	ENSP00000349696:R61W	R	+	1	2	CEPT1	111492040	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.208000	0.32345	1.443000	0.47586	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	1	0	1	115	427	0	123	1	1	52	78	0	123	2		0	0	0	0	0	2	1	1	112	414	0	120	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.990090	0.980000	1	9.700000e-01	1
DENND2D	79961	broad.mit.edu	37	1	111738639	111738639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111738639C>T	ENST00000357640.4	-	6	773	c.544G>A	c.(544-546)Gct>Act	p.A182T	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D			25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)			TAGATGACAGCCATGGAGATC	0.567000																								0							SO:0001583	missense			ENST00000357640.4	1	1	hg19	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829128	0.96996	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.11930	2.73;2.73	5.29	5.29	0.74685	DENN (3);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.78637	2.42	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01720	-1.1288	10	0.34782	T	0.22	-14.3451	16.4125	0.83723	0.0:1.0:0.0:0.0	.	179;182	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	T	182;179	ENSP00000350266:A182T;ENSP00000358767:A179T	ENSP00000350266:A182T	A	-	1	0	DENND2D	111540162	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.818000	0.86416	2.471000	0.83476	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	1	0	1	53	255	0	80	1	1	30	95	0	80	2		0	0	0	0	0	2	1	1	52	248	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.970806	0.970000	1	9.300000e-01	1
CHIA	27159	broad.mit.edu	37	1	111854859	111854859	+	Missense_Mutation	SNP	C	C	T	rs61752461	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111854859C>T	ENST00000369740.1	+	4	206	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R35W	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic			23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)			GGCCCAGTACCGGCCAGGCCT	0.582000																								0							SO:0001583	missense			ENST00000369740.1	1	0	hg19	CCDS41368.1	26	0.011904761904761904	23	0.046747967479674794	3	0.008287292817679558	0	0.0	0	0.0	C	17.72	3.459828	0.63401	0.040592	0.0	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.06933	3.24;3.24	5.08	-0.166	0.13351	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.47852	U	0.000201	T	0.17874	0.0429	H	0.95294	3.65	0.80722	D	1	P	0.47484	0.896	P	0.51453	0.67	T	0.41998	-0.9477	10	0.66056	D	0.02	-8.6166	13.0776	0.59095	0.7282:0.2718:0.0:0.0	rs61752461	35	Q9BZP6	CHIA_HUMAN	W	35	ENSP00000358755:R35W;ENSP00000341828:R35W	ENSP00000341828:R35W	R	+	1	2	CHIA	111656382	0.000000	0.05858	0.241000	0.24154	0.789000	0.44602	-0.273000	0.08548	0.179000	0.19938	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1	1	0	0	34	396	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	31	385	0	87	2								-2.642100	1	1	121016	432	59	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.810000	0.590000	0.990000	0.830000	0.815086	0.810000	0	6.900000e-01	9.300000e-01
MTOR	2475	broad.mit.edu	37	1	11194521	11194521	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11194521G>A	ENST00000361445.4	-	37	5209	c.5133C>T	c.(5131-5133)atC>atT	p.I1711I	MTOR_ENST00000495435.1_5'UTR|MTOR_ENST00000376838.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	p.I1711I(1)		149				Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGAAGGCATCGATCTGTAACA	0.542000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000361445.4	1	1	hg19	CCDS127.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	1	0	1	35	273	0	75	1	9.873347e-01	6	50	0	75	2		0	0	0	0	0	2	1	1	34	265	0	73	2								-14.056500	1	1	121412	35	44	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.930000	0.750000	1.000000	0.990000	0.923124	0.930000	1	8.500000e-01	9.900000e-01
OVGP1	5016	broad.mit.edu	37	1	111966237	111966237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111966237G>A	ENST00000369732.3	-	5	466	c.411C>T	c.(409-411)gaC>gaT	p.D137D	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.D77D	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa			39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)			AGAAGAAAAGGTCAAGACCAT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000369732.3	1	1	hg19	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.982861	0.02180	.	.	ENSG00000085465	ENST00000434331	.	.	.	4.54	1.62	0.23740	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49322	-0.8952	5	0.52906	T	0.07	-34.5513	8.1245	0.30990	0.3582:0.0:0.6418:0.0	.	.	.	.	I	7	.	ENSP00000397065:T7I	T	-	2	0	OVGP1	111767760	1.000000	0.71417	0.996000	0.52242	0.049000	0.14656	0.627000	0.24506	0.256000	0.21614	-1.094000	0.02160	ACC		TCGA-IB-7651-01A-11D-2154-08	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	1	0	1	51	257	0	87	1	1.345447e-01	3	1	0	87	2		0	0	0	0	0	2	1	1	48	253	0	86	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.968335	0.970000	1	9.300000e-01	1
WDR77	79084	broad.mit.edu	37	1	111984012	111984012	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111984012C>T	ENST00000235090.5	-	10	1076		c.e10-1		RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Splice_Site|WDR77_ENST00000497278.1_Splice_Site	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77			10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)			GCTTCTAAACCTAGAAGAAAG	0.498000																								0							SO:0001630	splice_region_variant			ENST00000235090.5	1	1	hg19	CCDS835.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022708	0.75275	.	.	ENSG00000116455	ENST00000235090;ENST00000411751;ENST00000449340	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR77	111785535	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.441000	0.73439	2.808000	0.96608	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	1	0	1	58	218	0	66	0	4.564091e-02	1	1	0	66	2		0	0	0	0	0	2	1	1	58	213	0	64	2								-3.165104	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977959	0.980000	1	9.500000e-01	1
MTOR	2475	broad.mit.edu	37	1	11199383	11199383	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11199383T>C	ENST00000361445.4	-	36	5184	c.5108A>G	c.(5107-5109)aAc>aGc	p.N1703S	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)			149				Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTTCCACATGTTTTTCATGTA	0.498000																								0							SO:0001583	missense			ENST00000361445.4	1	1	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261750	0.59431	.	.	ENSG00000198793	ENST00000361445	T	0.68765	-0.35	5.91	5.91	0.95273	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.103030	0.64402	D	0.000002	T	0.56140	0.1965	N	0.24115	0.695	0.80722	D	1	B	0.19073	0.033	B	0.22880	0.042	T	0.52011	-0.8632	10	0.44086	T	0.13	-19.7299	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1703	P42345	MTOR_HUMAN	S	1703	ENSP00000354558:N1703S	ENSP00000354558:N1703S	N	-	2	0	MTOR	11121970	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.555000	0.82223	2.254000	0.74563	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	1	0	1	75	666	0	159	1	9.887076e-01	9	54	0	159	2		0	0	0	0	0	2	1	1	73	656	0	157	2								-19.998030	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.800000	1.000000	0.990000	0.939646	0.940000	1	8.800000e-01	9.900000e-01
ATP5F1	515	broad.mit.edu	37	1	111999344	111999344	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111999344T>G	ENST00000369722.3	+	5	1086	c.480T>G	c.(478-480)gtT>gtG	p.V160V	ATP5F1_ENST00000483994.1_Silent_p.V99V|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1			8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)			AGGCACTGGTTCAGAAGCGCC	0.403000																								0							SO:0001819	synonymous_variant			ENST00000369722.3	1	1	hg19	CCDS836.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	1	0	1	67	596	0	134	1	1	108	643	0	134	2		0	0	0	0	0	2	1	1	67	584	0	134	2								-19.793440	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.940000	0.790000	1.000000	0.990000	0.934623	0.940000	1	8.700000e-01	9.900000e-01
C1orf162	128346	broad.mit.edu	37	1	112020639	112020639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112020639C>A	ENST00000343534.5	+	6	612	c.362C>A	c.(361-363)gCc>gAc	p.A121D	C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	p.A121V(1)		5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)			CTTACCTATGCCAGCACAACT	0.443000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000343534.5	1	1	hg19	CCDS837.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333575	0.60853	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	T;T	0.60299	0.2;0.21	5.11	4.15	0.48705	.	0.000000	0.44688	D	0.000423	T	0.53238	0.1784	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.45804	-0.9236	10	0.87932	D	0	-10.5295	11.5922	0.50951	0.0:0.8212:0.1788:0.0	.	121	Q8NEQ5	CA162_HUMAN	D	121;96	ENSP00000344218:A121D;ENSP00000358732:A96D	ENSP00000344218:A121D	A	+	2	0	C1orf162	111822162	0.052000	0.20516	0.192000	0.23308	0.011000	0.07611	0.626000	0.24492	2.651000	0.90000	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	1	0	1	37	335	0	101	0	1	1	322	0	101	2		0	0	0	0	0	2	1	1	36	324	0	100	2								-3.221884	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.910000	0.710000	1.000000	0.990000	0.901682	0.910000	1	8.100000e-01	9.800000e-01
ADORA3	140	broad.mit.edu	37	1	112045922	112045922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112045922C>T	ENST00000241356.4	-	1	460	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor			12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATGAAAATTTCCATGGTGATG	0.532000																								0							SO:0001583	missense			ENST00000241356.4	1	1	hg19	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149557	0.78001	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.37411	1.2;1.2	5.63	5.63	0.86233	.	0.000000	0.48767	D	0.000165	T	0.51126	0.1656	M	0.66439	2.03	0.80722	D	1	D;D	0.54601	0.967;0.958	P;D	0.74023	0.765;0.982	T	0.30149	-0.9988	10	0.28530	T	0.3	-22.6307	19.2654	0.93983	0.0:1.0:0.0:0.0	.	19;19	P33765;P33765-2	AA3R_HUMAN;.	K	19	ENSP00000358730:E19K;ENSP00000241356:E19K	ENSP00000241356:E19K	E	-	1	0	ADORA3	111847445	1.000000	0.71417	0.947000	0.38551	0.125000	0.20455	7.487000	0.81328	2.659000	0.90383	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	1	0	1	17	124	0	29	0	9.989237e-01	0	86	0	29	2		0	0	0	0	0	2	1	9.999707e-01	16	122	0	29	2								-9.828106	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.900000	0.640000	1.000000	0.990000	0.884380	0.900000	1	7.800000e-01	9.800000e-01
DDX20	11218	broad.mit.edu	37	1	112309448	112309448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112309448G>A	ENST00000369702.4	+	11	3022	c.2402G>A	c.(2401-2403)aGa>aAa	p.R801K	DDX20_ENST00000475700.1_Missense_Mutation_p.R409K	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20			21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)			AATGCTCAGAGACATCCAAGT	0.403000																								0							SO:0001583	missense			ENST00000369702.4	1	1	hg19	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369712	0.82573	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.34275	1.37;1.83	5.82	5.82	0.92795	.	0.169212	0.64402	D	0.000014	T	0.19208	0.0461	L	0.52364	1.645	0.80722	D	1	P;B	0.42518	0.782;0.236	B;B	0.36378	0.223;0.091	T	0.02596	-1.1136	9	.	.	.	-19.141	12.9785	0.58549	0.0743:0.0:0.9257:0.0	.	409;801	E9PJ60;Q9UHI6	.;DDX20_HUMAN	K	801;409	ENSP00000358716:R801K;ENSP00000435660:R409K	.	R	+	2	0	DDX20	112110971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.045000	0.64220	2.760000	0.94817	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	1	0	1	57	304	0	82	1	9.989439e-01	27	30	0	82	2		0	0	0	0	0	2	1	1	56	301	0	82	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.970011	0.970000	1	9.300000e-01	1
KCND3	3752	broad.mit.edu	37	1	112524699	112524699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112524699G>T	ENST00000315987.2	-	2	1129	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q|KCND3_ENST00000369697.1_Missense_Mutation_p.P217Q	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3			49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTCCCCGCACGGCAGCTCCTT	0.642000																								0							SO:0001583	missense			ENST00000315987.2	1	1	hg19	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090032	0.55968	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96967	-4.18;-4.19;-4.18	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	M	0.64997	1.995	0.80722	D	1	B;B	0.29590	0.25;0.25	B;B	0.26614	0.071;0.071	D	0.92464	0.5980	10	0.52906	T	0.07	.	18.9981	0.92821	0.0:0.0:1.0:0.0	.	217;217	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	217	ENSP00000358711:P217Q;ENSP00000319591:P217Q;ENSP00000306923:P217Q	ENSP00000306923:P217Q	P	-	2	0	KCND3	112326222	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	1	0	1	43	191	0	36	0	9.251630e-02	1	2	0	36	2		0	0	0	0	0	2	1	1	43	191	0	36	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.966227	0.970000	1	9.200000e-01	1
MTOR	2475	broad.mit.edu	37	1	11270930	11270930	+	Missense_Mutation	SNP	G	G	T	rs139709356	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11270930G>T	ENST00000361445.4	-	24	3671	c.3595C>A	c.(3595-3597)Ctg>Atg	p.L1199M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)			149				Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGTCGCACCAGAACTTTATTC	0.398000																								0							SO:0001583	missense			ENST00000361445.4	1	1	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784378	0.31593	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.74737	-0.87	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.126361	0.52532	D	0.000065	T	0.61185	0.2327	N	0.25789	0.76	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.55166	-0.8183	10	0.32370	T	0.25	-12.831	10.8679	0.46866	0.1389:0.0:0.8611:0.0	.	1199	P42345	MTOR_HUMAN	M	1199	ENSP00000354558:L1199M	ENSP00000354558:L1199M	L	-	1	2	MTOR	11193517	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.317000	0.51968	2.882000	0.98803	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	1	0	1	47	232	0	64	1	9.845296e-01	11	24	0	64	2		0	0	0	0	0	2	1	1	45	226	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.966302	0.970000	1	9.200000e-01	1
CTTNBP2NL	55917	broad.mit.edu	37	1	112998846	112998846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112998846C>T	ENST00000271277.6	+	6	957	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like			29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)			AGTTTGACATCGAAAGGGAAC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000271277.6	1	1	hg19	CCDS845.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	0	0	0	15	382	0	116	1	9.868297e-01	12	172	0	116	2		0	0	0	0	0	2	1	9.998429e-01	15	369	0	114	2								-3.449748	1	0	121410	2	40	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.400000	0.230000	0.620000	0.400000	0.421071	0.400000	0	3.100000e-01	5.200000e-01
WNT2B	7482	broad.mit.edu	37	1	113059807	113059807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059807G>A	ENST00000369684.4	+	4	1231	c.746G>A	c.(745-747)cGc>cAc	p.R249H	WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H|WNT2B_ENST00000369686.5_Missense_Mutation_p.R230H|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B			18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)			TGTACTCTGCGCACCTGCTGG	0.607000																								0							SO:0001583	missense			ENST00000369684.4	1	1	hg19	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060559	0.93846	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.77620	-1.11;-1.11;-1.11	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.93450	0.6801	10	0.87932	D	0	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	249;230	Q93097;Q93097-2	WNT2B_HUMAN;.	H	157;230;249	ENSP00000256640:R157H;ENSP00000358700:R230H;ENSP00000358698:R249H	ENSP00000256640:R157H	R	+	2	0	WNT2B	112861330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.599000	0.87857	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	1	0	1	69	290	0	82	0	1.723789e-01	1	3	0	82	2		0	0	0	0	0	2	1	1	66	284	0	80	2								-20.000000	1	0	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980276	0.980000	1	9.500000e-01	1
ST7L	54879	broad.mit.edu	37	1	113098550	113098550	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113098550G>T	ENST00000358039.4	-	12	1640	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I	ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000369668.2_Missense_Mutation_p.L446I|ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like			15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)			CAGTGCTGAAGATGAAAGAAA	0.363000																								0							SO:0001583	missense			ENST00000358039.4	1	1	hg19	CCDS848.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750582	0.89753	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.34919	0.0914	L	0.56199	1.76	0.80722	D	1	D;D;P;D;D;P;D;P	0.89917	1.0;0.999;0.697;0.96;0.96;0.919;0.96;0.934	D;D;P;P;P;P;P;P	0.87578	0.997;0.998;0.574;0.668;0.668;0.668;0.668;0.776	T	0.01228	-1.1412	10	0.37606	T	0.19	-13.8533	19.1881	0.93653	0.0:0.0:1.0:0.0	.	390;381;381;446;429;429;446;446	B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;ST7L_HUMAN	I	446;446;227;381;263;429;446;446;429;390	ENSP00000350734:L446I;ENSP00000353972:L446I;ENSP00000445499:L381I;ENSP00000358683:L263I;ENSP00000417140:L429I;ENSP00000358682:L446I;ENSP00000345312:L446I;ENSP00000358680:L429I;ENSP00000444021:L390I	ENSP00000345312:L446I	L	-	1	0	ST7L	112900073	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.625000	0.88918	0.585000	0.79938	CTT		TCGA-IB-7651-01A-11D-2154-08	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3	1	0	0	41	371	0	84	1	3.844664e-01	4	9	0	84	2		0	0	0	0	0	2	1	1	39	365	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.907469	0.910000	1	8.200000e-01	9.800000e-01
MTOR	2475	broad.mit.edu	37	1	11317062	11317062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11317062G>A	ENST00000361445.4	-	4	508	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)			149				Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAAATTCCACGTACTCAGCGG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000361445.4	1	1	hg19	CCDS127.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	1	0	1	20	113	0	37	1	9.855386e-01	17	25	0	37	2		0	0	0	0	0	2	1	9.999962e-01	20	109	0	37	2								-20.000000	1	1	121412	1	21	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.930000	0.720000	1.000000	0.990000	0.918862	0.930000	1	8.400000e-01	9.900000e-01
MOV10	4343	broad.mit.edu	37	1	113232719	113232719	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113232719C>T	ENST00000413052.2	+	5	1225	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	MOV10_ENST00000357443.2_Splice_Site_p.R279C|MOV10_ENST00000369644.1_Splice_Site_p.R223C|MOV10_ENST00000369645.1_Splice_Site_p.R279C|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase			38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)			GAGACCTGACCGGTAACTCCT	0.597000																								0							SO:0001630	splice_region_variant			ENST00000413052.2	1	0	hg19	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517779	0.64634	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.77	0.0455	0.14230	.	0.581408	0.19919	N	0.103134	D	0.87204	0.6119	L	0.61218	1.895	0.80722	D	1	P;D;P	0.76494	0.951;0.999;0.951	B;P;B	0.56343	0.326;0.796;0.326	T	0.82729	-0.0313	10	0.42905	T	0.14	-8.0E-4	0.619	0.00775	0.2068:0.3713:0.1398:0.2821	.	223;279;279	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	C	279;279;279;223;279;217	ENSP00000399797:R279C;ENSP00000358659:R279C;ENSP00000358658:R223C;ENSP00000350028:R279C	ENSP00000285733:R279C	R	+	1	0	MOV10	113034242	0.987000	0.35691	0.998000	0.56505	0.985000	0.73830	0.525000	0.22956	0.087000	0.17167	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1	80	299	0	97	1	9.999876e-01	8	56	0	97	2		0	0	0	0	0	2	1	1	80	294	0	96	2								-3.630033	1	1	121412	1	26	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.984668	0.980000	1	9.600000e-01	1
MOV10	4343	broad.mit.edu	37	1	113238174	113238174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113238174G>A	ENST00000413052.2	+	11	2147	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	MOV10_ENST00000357443.2_Missense_Mutation_p.R586H|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.R530H|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	p.R586L(1)		38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)			AGGGACATCCGCATGGTACCT	0.602000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000413052.2	1	1	hg19	CCDS853.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.91	2.377101	0.42105	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.67	2.45	0.29901	.	0.688797	0.14861	N	0.294066	T	0.59622	0.2207	L	0.39898	1.24	0.09310	N	0.999996	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.005	T	0.55457	-0.8138	10	0.42905	T	0.14	-5.1003	9.3777	0.38292	0.3334:0.0:0.6666:0.0	.	530;586	Q5JR04;Q9HCE1	.;MOV10_HUMAN	H	586;586;530;586;524	ENSP00000399797:R586H;ENSP00000358659:R586H;ENSP00000358658:R530H;ENSP00000350028:R586H	ENSP00000350028:R586H	R	+	2	0	MOV10	113039697	0.002000	0.14202	0.999000	0.59377	0.992000	0.81027	1.012000	0.29924	0.768000	0.33290	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1	18	138	0	53	0	9.998595e-01	0	118	0	53	2		0	0	0	0	0	2	1	9.999830e-01	18	133	0	53	2								-2.968044	1	1	121412	9	37	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.890000	0.640000	1.000000	0.990000	0.882325	0.890000	1	7.800000e-01	9.800000e-01
MOV10	4343	broad.mit.edu	37	1	113239108	113239108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113239108G>A	ENST00000413052.2	+	13	2323	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	MOV10_ENST00000357443.2_Missense_Mutation_p.D645N|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.D589N|MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase			38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)			CATCTTCATCGATGAGGCTGG	0.572000																								0							SO:0001583	missense			ENST00000413052.2	1	1	hg19	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658653	0.96734	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97229	0.9883	10	0.87932	D	0	-15.6343	18.4724	0.90779	0.0:0.0:1.0:0.0	.	645	Q9HCE1	MOV10_HUMAN	N	645;645;589;645;583	ENSP00000399797:D645N;ENSP00000358659:D645N;ENSP00000358658:D589N;ENSP00000350028:D645N	ENSP00000350028:D645N	D	+	1	0	MOV10	113040631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.147000	0.94646	2.680000	0.91292	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1	60	495	0	104	0	9.999541e-01	0	120	0	104	2		0	0	0	0	0	2	1	9.999997e-01	57	478	1	102	18								-3.318794	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.942025	0.950000	1	8.800000e-01	9.900000e-01
MOV10	4343	broad.mit.edu	37	1	113242307	113242307	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242307G>A	ENST00000413052.2	+	18	2974	c.2584G>A	c.(2584-2586)Gtg>Atg	p.V862M	MOV10_ENST00000357443.2_Splice_Site_p.V862M|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Splice_Site_p.V806M|MOV10_ENST00000369645.1_Splice_Site_p.V862M|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	p.V862L(1)		38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)			TCCCCACTAGGTGGGTTCAGT	0.567000																								1	Substitution - Missense(1)						SO:0001630	splice_region_variant			ENST00000413052.2	1	0	hg19	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946698	0.73672	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98951	1.0794	10	0.87932	D	0	-15.4699	15.9968	0.80256	0.0:0.0:1.0:0.0	.	862	Q9HCE1	MOV10_HUMAN	M	862;862;806;862;800	ENSP00000399797:V862M;ENSP00000358659:V862M;ENSP00000358658:V806M;ENSP00000350028:V862M	ENSP00000350028:V862M	V	+	1	0	MOV10	113043830	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.866000	0.99616	2.311000	0.77944	0.467000	0.42956	GTG		TCGA-IB-7651-01A-11D-2154-08	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1	60	493	0	99	1	9.996151e-01	2	94	0	99	2		0	0	0	0	0	2	1	1	60	481	0	99	2								-19.869530	1	0	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.942578	0.950000	1	8.800000e-01	9.900000e-01
MOV10	4343	broad.mit.edu	37	1	113242367	113242367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242367C>T	ENST00000413052.2	+	18	3034	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Nonsense_Mutation_p.R826*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase			38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)			CTCCACCGTGCGAAGCAGCCA	0.552000																								0							SO:0001587	stop_gained			ENST00000413052.2	0	1	hg19	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	48	14.608624	0.99803	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	5.1	3.18	0.36537	.	0.057790	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9439	9.991	0.41872	0.0:0.7847:0.1389:0.0764	.	.	.	.	X	882;882;826;882;820	.	ENSP00000350028:R882X	R	+	1	2	MOV10	113043890	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	4.821000	0.62679	0.524000	0.28502	0.467000	0.42956	CGA		TCGA-IB-7651-01A-11D-2154-08	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1	95	821	0	174	1	9.999986e-01	4	157	0	174	2		0	0	0	0	0	2	1	1	93	809	0	171	2								-20.000000	1	0	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.840000	1.000000	0.990000	0.953132	0.950000	1	9.000000e-01	9.900000e-01
MOV10	4343	broad.mit.edu	37	1	113243054	113243054	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113243054C>A	ENST00000413052.2	+	21	3327	c.2937C>A	c.(2935-2937)gaC>gaA	p.D979E	MOV10_ENST00000357443.2_Missense_Mutation_p.D979E|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Missense_Mutation_p.D923E|MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase			38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)			ACAGCCATGACTACCTCCCCC	0.602000																								0							SO:0001583	missense			ENST00000413052.2	1	1	hg19	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	3.646	-0.072504	0.07228	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91011	-2.77;-2.77;-2.76;-2.77	5.11	2.12	0.27331	.	0.578929	0.17478	N	0.172838	T	0.60130	0.2245	N	0.22421	0.69	0.20307	N	0.999918	B	0.16603	0.018	B	0.11329	0.006	T	0.54655	-0.8261	10	0.02654	T	1	-9.6831	6.2632	0.20912	0.0:0.6594:0.1626:0.1779	.	979	Q9HCE1	MOV10_HUMAN	E	979;979;923;979;917	ENSP00000399797:D979E;ENSP00000358659:D979E;ENSP00000358658:D923E;ENSP00000350028:D979E	ENSP00000350028:D979E	D	+	3	2	MOV10	113044577	0.065000	0.20965	0.005000	0.12908	0.003000	0.03518	0.539000	0.23175	0.635000	0.30488	-0.251000	0.11542	GAC		TCGA-IB-7651-01A-11D-2154-08	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	1	0	1	39	259	0	37	1	9.999983e-01	3	134	0	37	2		0	0	0	0	0	2	1	1	39	250	0	37	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.944496	0.950000	1	8.800000e-01	9.900000e-01
SLC16A1	6566	broad.mit.edu	37	1	113471841	113471841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113471841G>A	ENST00000538576.1	-	2	921	c.90C>T	c.(88-90)atC>atT	p.I30I	SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Silent_p.I30I|SLC16A1_ENST00000433570.4_Silent_p.I30I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1			20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AAGAGAAGCCGATGGAAATGA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000538576.1	1	1	hg19	CCDS858.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	1	0	1	15	204	0	59	1	8.948020e-01	12	44	0	59	2		0	0	0	0	0	2	1	9.998811e-01	15	202	0	58	2								-3.143184	1	1	121412	1	27	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.700000	0.420000	0.970000	0.710000	0.713374	0.700000	0	5.500000e-01	8.700000e-01
LRIG2	9860	broad.mit.edu	37	1	113655143	113655143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113655143G>A	ENST00000361127.5	+	14	2039	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2			31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)			CTGACTATTCGCACTGGTGCC	0.478000																								0							SO:0001583	missense			ENST00000361127.5	1	1	hg19	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	g	33	5.254238	0.95336	.	.	ENSG00000198799	ENST00000361127	T	0.68025	-0.3	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.73388	-0.3998	10	0.59425	D	0.04	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	614	O94898	LRIG2_HUMAN	H	614	ENSP00000355396:R614H	ENSP00000355396:R614H	R	+	2	0	LRIG2	113456666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.560000	0.86352	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	1	134	465	0	110	1	5.652814e-01	2	6	0	110	2		0	0	0	0	0	2	1	1	132	456	0	108	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992196	0.990000	1	9.700000e-01	1
LRIG2	9860	broad.mit.edu	37	1	113657135	113657135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113657135C>A	ENST00000361127.5	+	15	2365	c.2167C>A	c.(2167-2169)Cct>Act	p.P723T	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2			31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)			TGGAGGGAGTCCTGCCCCTCG	0.483000																								0							SO:0001583	missense			ENST00000361127.5	1	1	hg19	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617751	0.87359	.	.	ENSG00000198799	ENST00000361127	T	0.74315	-0.83	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93558	0.6892	10	0.87932	D	0	.	18.9455	0.92621	0.0:1.0:0.0:0.0	.	723	O94898	LRIG2_HUMAN	T	723	ENSP00000355396:P723T	ENSP00000355396:P723T	P	+	1	0	LRIG2	113458658	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.818000	0.86416	2.461000	0.83175	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	0	30	287	0	56	0	6.106347e-01	1	20	0	56	2		0	0	0	0	0	2	1	1	29	280	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.880000	0.660000	1.000000	0.990000	0.876683	0.880000	1	7.700000e-01	9.700000e-01
LRIG2	9860	broad.mit.edu	37	1	113662141	113662141	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113662141C>T	ENST00000361127.5	+	17	3165	c.2967C>T	c.(2965-2967)agC>agT	p.S989S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2			31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)			CACAGATGAGCGGTGGTAAGG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000361127.5	1	1	hg19	CCDS30808.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	0	26	173	0	53	0	7.793822e-01	1	20	0	53	2		0	0	0	0	0	2	1	9.999999e-01	25	172	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.930000	0.740000	1.000000	0.990000	0.922804	0.930000	1	8.500000e-01	9.900000e-01
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	rs151009293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2			31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)			AACATTGCAGCGGCCCGTGTG	0.418000																								0							SO:0001583	missense			ENST00000361127.5	1	1	hg19	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204530	0.22205	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.66099	-0.19	5.9	5.9	0.94986	.	0.411554	0.20917	N	0.083346	T	0.45617	0.1351	L	0.56769	1.78	0.31206	N	0.699241	D	0.56968	0.978	B	0.36504	0.226	T	0.59359	-0.7469	10	0.66056	D	0.02	.	17.1936	0.86887	0.0:0.8743:0.1257:0.0	.	995	O94898	LRIG2_HUMAN	W	995	ENSP00000355396:R995W	ENSP00000355396:R995W	R	+	1	2	LRIG2	113468031	0.996000	0.38824	0.385000	0.26158	0.017000	0.09413	1.389000	0.34453	2.798000	0.96311	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	1	0	1	30	108	0	27	1	9.891066e-01	7	21	0	27	2		0	0	0	0	0	2	1	1	30	104	0	27	2								-20.000000	1	1	121412	5	36	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.957712	0.960000	1	9.100000e-01	1
MAGI3	260425	broad.mit.edu	37	1	114185035	114185035	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114185035A>C	ENST00000307546.9	+	10	1938	c.1863A>C	c.(1861-1863)gaA>gaC	p.E621D	MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000369615.1_Missense_Mutation_p.E621D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3			41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)			TAATTAAGGAAATATACCATC	0.408000																								0							SO:0001583	missense			ENST00000307546.9	1	1	hg19	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827074	0.50739	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.47	0.0969	0.14492	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.84948	2.725	0.80722	D	1	B;D;B	0.76494	0.048;0.999;0.092	B;D;B	0.71184	0.088;0.972;0.207	T	0.63368	-0.6653	10	0.87932	D	0	-25.6132	9.6773	0.40047	0.5907:0.0:0.4093:0.0	.	621;621;646	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	D	646;621;621;621	ENSP00000358630:E646D;ENSP00000304604:E621D;ENSP00000358628:E621D;ENSP00000358624:E621D	ENSP00000304604:E621D	E	+	3	2	MAGI3	113986558	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.656000	0.46716	0.128000	0.18479	0.455000	0.32223	GAA		TCGA-IB-7651-01A-11D-2154-08	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	1	0	1	47	252	0	53	1	4.314940e-01	2	7	0	53	2		0	0	0	0	0	2	1	1	47	249	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.963539	0.960000	1	9.200000e-01	1
MAGI3	260425	broad.mit.edu	37	1	114196597	114196597	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114196597T>C	ENST00000307546.9	+	15	2661	c.2586T>C	c.(2584-2586)ttT>ttC	p.F862F	MAGI3_ENST00000369617.4_Silent_p.F887F|MAGI3_ENST00000369615.1_Silent_p.F862F|MAGI3_ENST00000369611.4_Silent_p.F862F	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3			41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)			ATGAAGGATTTGGCTTTGTCA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000307546.9	1	1	hg19	CCDS44196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	0	0	0	35	1222	0	242	1	1.501503e-01	2	22	0	242	2		0	0	0	0	0	2	1	1	35	1202	0	240	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.290000	0.200000	0.400000	0.300000	0.305414	0.290000	0	2.500000e-01	3.500000e-01
MAGI3	260425	broad.mit.edu	37	1	114215988	114215988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114215988C>T	ENST00000307546.9	+	19	3165	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	MAGI3_ENST00000369617.4_Silent_p.G1055G|MAGI3_ENST00000369615.1_Silent_p.G1030G|MAGI3_ENST00000369611.4_Silent_p.G1030G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3			41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)			GCCCCCGGGGCTTTGGATTCA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000307546.9	1	1	hg19	CCDS44196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	1	0	1	99	430	0	119	1	8.740307e-01	5	13	0	119	2		0	0	0	0	0	2	1	1	99	426	0	118	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986538	0.980000	1	9.600000e-01	1
PHTF1	10745	broad.mit.edu	37	1	114255905	114255905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114255905C>T	ENST00000369604.1	-	8	1262	c.779G>A	c.(778-780)cGt>cAt	p.R260H	PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1			27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)			TCTTACCCTACGGCACTTTTC	0.358000																								0							SO:0001583	missense			ENST00000369604.1	1	1	hg19	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.401|9.401	1.077906|1.077906	0.20227|0.20227	0.0|0.0	1.16E-4|1.16E-4	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.55|5.55	-0.91|-0.91	0.10511|0.10511	.|.	0.913966|.	0.09577|.	N|.	0.783441|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.04508|0.04508	-0.205|-0.205	0.19575|0.19575	N|N	0.999967|0.999967	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001|.	T|T	0.41963|0.41963	-0.9479|-0.9479	9|5	0.27082|.	T|.	0.32|.	-0.2427|-0.2427	6.2443|6.2443	0.20807|0.20807	0.0:0.2247:0.1549:0.6204|0.0:0.2247:0.1549:0.6204	.|.	215;260;15;260|.	F5H7M5;Q9UMS5;Q5TCR1;Q9UMS5-2|.	.;PHTF1_HUMAN;.;.|.	H|I	215;260;207;215;207;260;260|16	.|.	ENSP00000350428:R260H|.	R|V	-|-	2|1	0|0	PHTF1|PHTF1	114057428|114057428	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.939000|0.939000	0.58152|0.58152	-0.664000|-0.664000	0.05292|0.05292	-0.036000|-0.036000	0.13669|0.13669	0.467000|0.467000	0.42956|0.42956	CGT|GTA		TCGA-IB-7651-01A-11D-2154-08	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	1	0	1	58	429	0	81	1	9.644911e-01	3	39	0	81	2		0	0	0	0	0	2	1	1	57	418	0	78	2								-19.970260	1	1	121410	6	42	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.952808	0.960000	1	9.000000e-01	9.900000e-01
RSBN1	54665	broad.mit.edu	37	1	114340180	114340180	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114340180C>T	ENST00000261441.5	-	2	1245	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1			29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)			aagcaagaAACTCCTCAGAAA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000261441.5	1	1	hg19	CCDS862.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	1	0	1	13	96	0	27	1	9.053019e-01	12	21	0	27	2		0	0	0	0	0	2	1	9.996231e-01	13	95	0	27	2								-19.976170	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.880000	0.580000	1.000000	0.990000	0.861334	0.880000	1	7.400000e-01	9.700000e-01
PTPN22	26191	broad.mit.edu	37	1	114414173	114414173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114414173C>T	ENST00000359785.5	-	1	208	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000534519.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)			21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)			AATTCATTGGCAAACTCCTCT	0.413000																								0							SO:0001583	missense			ENST00000359785.5	1	1	hg19	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	3.026	-0.200671	0.06219	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.13901	2.76;3.69;2.76;3.58;2.55	5.28	3.37	0.38596	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.213663	0.38492	N	0.001668	T	0.06234	0.0161	L	0.41906	1.305	0.36113	D	0.844951	P;B;P;B;B;B	0.52463	0.946;0.002;0.953;0.004;0.371;0.001	P;B;B;B;B;B	0.46452	0.517;0.002;0.375;0.008;0.092;0.003	T	0.26677	-1.0096	10	0.42905	T	0.14	.	8.2142	0.31501	0.1385:0.7143:0.0:0.1471	.	25;25;25;25;25;25	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	T	25	ENSP00000433141:A25T;ENSP00000352833:A25T;ENSP00000435176:A25T;ENSP00000388229:A25T;ENSP00000432674:A25T	ENSP00000346621:A25T	A	-	1	0	PTPN22	114215696	0.869000	0.29996	0.777000	0.31699	0.001000	0.01503	0.975000	0.29449	0.355000	0.24131	-2.636000	0.00152	GCC		TCGA-IB-7651-01A-11D-2154-08	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	0	0	1	73	312	0	65	0	8.340681e-01	0	16	0	65	2		0	0	0	0	0	2	1	1	72	300	0	63	2								-20.000000	1	0	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981217	0.980000	1	9.500000e-01	1
BCL2L15	440603	broad.mit.edu	37	1	114429225	114429225	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114429225A>G	ENST00000393316.3	-	2	354	c.183T>C	c.(181-183)ggT>ggC	p.G61G	BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000471267.1_Silent_p.G61G	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15			9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)			TGAACTGGTCACCCAACATCC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000393316.3	1	1	hg19	CCDS30809.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	0	0	1	41	192	0	44	1	9.991117e-01	21	32	0	44	2		0	0	0	0	0	2	1	1	39	190	0	44	2								-19.999390	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.963132	0.960000	1	9.200000e-01	1
AP4B1	10717	broad.mit.edu	37	1	114440517	114440517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114440517G>A	ENST00000369569.1	-	7	1527	c.1247C>T	c.(1246-1248)aCt>aTt	p.T416I	AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I|AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit			25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)			TACAGCTTCAGTACACTGAGG	0.502000																								0							SO:0001583	missense			ENST00000369569.1	1	1	hg19	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887404	0.52014	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.25414	1.8;1.8;1.8	5.52	4.6	0.57074	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.314320	0.37437	N	0.002085	T	0.04092	0.0114	N	0.01431	-0.87	0.80722	D	1	B;B;B	0.17038	0.005;0.02;0.012	B;B;B	0.19666	0.026;0.018;0.014	T	0.16100	-1.0414	10	0.40728	T	0.16	.	9.7978	0.40746	0.1548:0.0:0.8452:0.0	.	248;416;317	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	I	248;416;416	ENSP00000358580:T248I;ENSP00000358582:T416I;ENSP00000256658:T416I	ENSP00000256658:T416I	T	-	2	0	AP4B1	114242040	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	3.377000	0.52425	2.588000	0.87417	0.462000	0.41574	ACT		TCGA-IB-7651-01A-11D-2154-08	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1	50	204	0	90	1	9.997163e-01	18	35	0	90	2		0	0	0	0	0	2	1	1	50	196	0	90	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972752	0.970000	1	9.400000e-01	1
AP4B1	10717	broad.mit.edu	37	1	114442734	114442734	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442734C>A	ENST00000369569.1	-	5	1186	c.906G>T	c.(904-906)caG>caT	p.Q302H	AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit			25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)			TATGCAAGATCTGGCGTACAT	0.473000																								0							SO:0001583	missense			ENST00000369569.1	0	1	hg19	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647931	0.67358	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;2.62;1.76;1.76	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.175708	0.50627	D	0.000103	T	0.29355	0.0731	L	0.46157	1.445	0.51233	D	0.999914	D;P;P;B	0.57571	0.98;0.75;0.915;0.021	P;P;P;B	0.60236	0.871;0.637;0.549;0.071	T	0.01639	-1.1306	10	0.54805	T	0.06	.	13.0983	0.59206	0.0:0.9224:0.0:0.0776	.	209;134;302;203	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	H	134;302;302;209;227;134	ENSP00000358580:Q134H;ENSP00000358582:Q302H;ENSP00000256658:Q302H;ENSP00000358579:Q209H;ENSP00000358577:Q227H;ENSP00000393622:Q134H	ENSP00000256658:Q302H	Q	-	3	2	AP4B1	114244257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.381000	0.52455	2.487000	0.83934	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	0	0	0	12	552	1	114	1	4.042687e-02	4	49	1	114	4		0	0	0	0	0	2	0	2.116697e-01	12	543	1	114	17								-9.918205	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.230000	0.120000	0.380000	0.230000	0.242968	0.230000	0	1.700000e-01	3.100000e-01
AP4B1	10717	broad.mit.edu	37	1	114442925	114442925	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442925G>T	ENST00000369569.1	-	5	995	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M|AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit			25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)			CTATCCAACAGATTGAGAATG	0.453000																								0							SO:0001583	missense			ENST00000369569.1	1	1	hg19	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310287	0.60414	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;2.52;1.73;1.73;1.73	5.2	2.25	0.28309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.070081	0.64402	D	0.000014	T	0.30070	0.0753	M	0.78456	2.415	0.52501	D	0.999951	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.993;0.994;0.995;0.994	T	0.08911	-1.0699	10	0.36615	T	0.2	-4.2859	4.4719	0.11717	0.3052:0.0:0.5495:0.1454	.	146;71;239;140	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	M	71;239;239;146;164;71;239	ENSP00000358580:L71M;ENSP00000358582:L239M;ENSP00000256658:L239M;ENSP00000358579:L146M;ENSP00000358577:L164M;ENSP00000393622:L71M;ENSP00000358584:L239M	ENSP00000256658:L239M	L	-	1	2	AP4B1	114244448	1.000000	0.71417	0.989000	0.46669	0.937000	0.57800	2.477000	0.45180	0.270000	0.21984	-0.258000	0.10820	CTG		TCGA-IB-7651-01A-11D-2154-08	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1	36	303	0	61	1	9.581819e-01	8	38	0	61	2		0	0	0	0	0	2	1	1	36	298	0	61	2								-13.732600	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.913694	0.920000	1	8.300000e-01	9.800000e-01
AP4B1	10717	broad.mit.edu	37	1	114443916	114443916	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114443916G>A	ENST00000369569.1	-	4	839	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron|AP4B1_ENST00000256658.4_Silent_p.L187L|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit			25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)			TCCTGTTTCAGAATTTCCTCT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000369569.1	1	1	hg19	CCDS865.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1	88	339	0	87	1	9.999290e-01	24	32	0	87	2		0	0	0	0	0	2	1	1	84	332	0	87	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.985976	0.980000	1	9.600000e-01	1
AP4B1	10717	broad.mit.edu	37	1	114445332	114445332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114445332G>A	ENST00000369569.1	-	2	546	c.266C>T	c.(265-267)aCg>aTg	p.T89M	AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|AP4B1-AS1_ENST00000419536.1_RNA|DCLRE1B_ENST00000369563.3_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit			25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)			TTTGCACAGCGTATTGATGGC	0.522000																								0							SO:0001583	missense			ENST00000369569.1	1	1	hg19	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983200	0.93044	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369571	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.90198	3.095	0.35726	D	0.817514	D;D	0.89917	1.0;1.0	D;D	0.85130	0.953;0.997	T	0.70439	-0.4871	10	0.72032	D	0.01	-6.4216	18.9713	0.92716	0.0:0.0:1.0:0.0	.	89;89	B7Z4X3;Q9Y6B7	.;AP4B1_HUMAN	M	89	ENSP00000358582:T89M;ENSP00000256658:T89M;ENSP00000358579:T89M;ENSP00000358584:T89M	ENSP00000256658:T89M	T	-	2	0	AP4B1	114246855	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	7.244000	0.78228	2.465000	0.83290	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	1	0	1	31	269	0	57	1	9.442244e-01	8	36	0	57	2		0	0	0	0	0	2	1	1	31	266	0	56	2								-12.235850	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.910000	0.700000	1.000000	0.990000	0.899661	0.910000	1	8.100000e-01	9.800000e-01
DCLRE1B	64858	broad.mit.edu	37	1	114448377	114448377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114448377C>T	ENST00000369563.3	+	1	615	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	AP4B1_ENST00000369569.1_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000256658.4_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B			18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)			TACAGCCCACCTCTTGCATCG	0.587000								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)												0							SO:0001583	missense			ENST00000369563.3	1	1	hg19	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874689	0.91664	.	.	ENSG00000118655	ENST00000369563	T	0.77750	-1.12	5.56	5.56	0.83823	Beta-lactamase-like (1);	0.059585	0.64402	D	0.000002	D	0.85725	0.5763	M	0.84846	2.72	0.51767	D	0.999937	D	0.89917	1.0	D	0.77557	0.99	D	0.87258	0.2277	10	0.62326	D	0.03	-20.3906	10.9353	0.47241	0.1448:0.7154:0.1397:0.0	.	57	Q9H816	DCR1B_HUMAN	F	57	ENSP00000358576:L57F	ENSP00000358576:L57F	L	+	1	0	DCLRE1B	114249900	0.895000	0.30542	0.998000	0.56505	0.891000	0.51852	1.808000	0.38912	2.609000	0.88269	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	1	0	0	50	228	0	38	1	9.853061e-01	8	25	0	38	2		0	0	0	0	0	2	1	1	47	224	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.970397	0.970000	1	9.300000e-01	1
DCLRE1B	64858	broad.mit.edu	37	1	114454079	114454079	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114454079C>A	ENST00000369563.3	+	4	1311	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B			18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)			TGTCGCAGCACTGAAGCCTTG	0.577000								Other identified genes with known or suspected DNA repair function																0							SO:0001583	missense			ENST00000369563.3	1	1	hg19	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183116	0.78677	.	.	ENSG00000118655	ENST00000369563	T	0.52295	0.67	6.02	5.11	0.69529	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.81614	2.55	0.53005	D	0.999962	D	0.89917	1.0	D	0.79784	0.993	T	0.68622	-0.5360	10	0.62326	D	0.03	-15.6402	13.2133	0.59839	0.0:0.8685:0.0:0.1315	.	289	Q9H816	DCR1B_HUMAN	M	289	ENSP00000358576:L289M	ENSP00000358576:L289M	L	+	1	2	DCLRE1B	114255602	0.998000	0.40836	0.810000	0.32431	0.985000	0.73830	3.968000	0.56809	1.572000	0.49736	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	1	0	0	16	339	0	68	1	4.774628e-01	3	31	0	68	2		0	0	0	0	0	2	1	9.999332e-01	16	336	0	67	2								-17.209400	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.480000	0.280000	0.730000	0.470000	0.498420	0.480000	0	3.700000e-01	6.100000e-01
HIPK1	204851	broad.mit.edu	37	1	114483457	114483457	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114483457C>A	ENST00000369558.1	+	2	684	c.452C>A	c.(451-453)aCt>aAt	p.T151N	HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1			39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)			CAAAACAGGACTGTGGTGGGT	0.493000																								0							SO:0001583	missense			ENST00000369558.1	1	1	hg19	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380664	0.42207	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.72;0.73;0.73;0.72;0.74	5.44	5.44	0.79542	.	0.088954	0.46758	D	0.000261	T	0.21718	0.0523	N	0.11560	0.145	0.80722	D	1	B;P	0.38167	0.072;0.621	B;B	0.39971	0.059;0.315	T	0.08289	-1.0729	10	0.24483	T	0.36	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	151;151	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	N	222;151;151;151;151;151;151	ENSP00000407442:T222N;ENSP00000358572:T151N;ENSP00000409673:T151N;ENSP00000358567:T151N;ENSP00000358568:T151N;ENSP00000358571:T151N;ENSP00000358574:T151N	ENSP00000358567:T151N	T	+	2	0	HIPK1	114284980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.826000	0.62715	2.546000	0.85860	0.650000	0.86243	ACT		TCGA-IB-7651-01A-11D-2154-08	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	0	0	1	51	224	0	89	1	9.998797e-01	14	48	0	89	2		0	0	0	0	0	2	1	1	49	222	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.971837	0.970000	1	9.300000e-01	1
SYT6	148281	broad.mit.edu	37	1	114682402	114682402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114682402G>A	ENST00000610222.1	-	2	493	c.347C>T	c.(346-348)gCg>gTg	p.A116V	SYT6_ENST00000369547.1_Missense_Mutation_p.A31V|SYT6_ENST00000609117.1_Missense_Mutation_p.A31V|SYT6_ENST00000393296.1_Missense_Mutation_p.A116V|SYT6_ENST00000607941.1_Missense_Mutation_p.A31V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI			37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)			CAGCTTGTCCGCCATGTTGCC	0.622000																								0							SO:0001583	missense			ENST00000610222.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	19.57	3.852456	0.71719	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.58940	0.32;0.3;0.32;0.3;1.44;0.85	5.67	5.67	0.87782	.	0.054196	0.85682	D	0.000000	T	0.42966	0.1226	L	0.51422	1.61	0.80722	D	1	B	0.19935	0.04	B	0.14578	0.011	T	0.28459	-1.0043	10	0.36615	T	0.2	.	19.7706	0.96363	0.0:0.0:1.0:0.0	.	116	Q5T7P8	SYT6_HUMAN	V	31;116;31;116;31;31	ENSP00000358560:A31V;ENSP00000376974:A116V;ENSP00000358559:A31V;ENSP00000358558:A116V;ENSP00000412443:A31V;ENSP00000389266:A31V	ENSP00000358558:A116V	A	-	2	0	SYT6	114483925	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	8.005000	0.88553	2.697000	0.92050	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	0	0	1	79	729	2	155	0	0	0	1	2	155	2		0	0	0	0	0	2	1	1	74	715	2	152	25								-19.991340	1	0	121412	1	35	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.940000	0.790000	1.000000	0.990000	0.933960	0.940000	1	8.700000e-01	9.900000e-01
TRIM33	51592	broad.mit.edu	37	1	114948188	114948188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114948188G>A	ENST00000358465.2	-	15	2695	c.2612C>T	c.(2611-2613)tCg>tTg	p.S871L	TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L|TRIM33_ENST00000476908.1_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33			48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			AATCCTTGCCGACCTGTGCAT	0.468000			T	RET	papillary thyroid										Dom	yes		1	1p13	51592	tripartite motif-containing 33 (PTC7,TIF1G)		E	0							SO:0001583	missense			ENST00000358465.2	1	1	hg19	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.38|17.38	3.376244|3.376244	0.61735|0.61735	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.77098	.|-0.93;-0.79;-1.07	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Zinc finger, FYVE/PHD-type (1);	.|0.429133	.|0.25801	.|N	.|0.028201	T|T	0.57946|0.57946	0.2088|0.2088	L|L	0.32530|0.32530	0.975|0.975	0.48288|0.48288	D|D	0.999627|0.999627	.|P;P;B;P;P	.|0.42692	.|0.7;0.748;0.021;0.787;0.682	.|B;B;B;B;B	.|0.32583	.|0.113;0.104;0.016;0.148;0.07	T|T	0.66571|0.66571	-0.5890|-0.5890	5|10	.|0.49607	.|T	.|0.09	-2.905|-2.905	19.2948|19.2948	0.94118|0.94118	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|503;503;66;871;871	.|E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.|.;.;.;.;TRI33_HUMAN	W|L	632|871;871;503	.|ENSP00000351250:S871L;ENSP00000358556:S871L;ENSP00000412077:S503L	.|ENSP00000351250:S871L	R|S	-|-	1|2	2|0	TRIM33|TRIM33	114749711|114749711	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.903000|0.903000	0.53119|0.53119	8.995000|8.995000	0.93534|0.93534	2.636000|2.636000	0.89361|0.89361	0.491000|0.491000	0.48974|0.48974	CGG|TCG		TCGA-IB-7651-01A-11D-2154-08	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	1	0	1	183	630	0	150	1	9.999917e-01	24	35	0	150	2		0	0	0	0	0	2	1	1	181	613	0	147	2								-20.000000	1	1	121412	2	42	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994816	0.990000	1	9.800000e-01	1
TRIM33	51592	broad.mit.edu	37	1	114968227	114968227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114968227C>T	ENST00000358465.2	-	9	1622	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33			48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			GGAGTCGAAGCTGTGCTAAGT	0.458000			T	RET	papillary thyroid										Dom	yes		1	1p13	51592	tripartite motif-containing 33 (PTC7,TIF1G)		E	0							SO:0001819	synonymous_variant			ENST00000358465.2	1	1	hg19	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856383	0.17106	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.23	2.34	0.29019	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	-6.7607	10.5993	0.45358	0.0:0.7899:0.0:0.2101	.	.	.	.	N	250	.	.	S	-	2	0	TRIM33	114769750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.200000	0.42724	0.305000	0.22832	-0.157000	0.13467	AGC		TCGA-IB-7651-01A-11D-2154-08	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	1	0	0	170	718	0	206	1	9.999997e-01	47	42	0	206	2		0	0	0	0	0	2	1	1	169	698	0	205	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	0.990000	0.993251	0.990000	1	9.800000e-01	1
NRAS	4893	broad.mit.edu	37	1	115252229	115252229	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115252229G>A	ENST00000369535.4	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog			3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			ATGGAATCCCGTAACTCTTGG	0.448000		50	Mis		melanoma, MM, AML, thyroid				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		L, E	0							SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	ENST00000369535.4	1	1	hg19	CCDS877.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	1	0	1	31	214	0	59	1	9.999999e-01	12	181	0	59	2		0	0	0	0	0	2	1	1	31	207	0	59	2								-14.213370	1	1	121412	4	35	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.940000	0.760000	1.000000	0.990000	0.929604	0.940000	1	8.600000e-01	9.900000e-01
CSDE1	7812	broad.mit.edu	37	1	115263337	115263337	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115263337G>A	ENST00000358528.4	-	17	2301	c.1875C>T	c.(1873-1875)ggC>ggT	p.G625G	CSDE1_ENST00000438362.2_Splice_Site_p.G671G|CSDE1_ENST00000261443.5_Splice_Site_p.G594G|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000530886.1_Splice_Site_p.G495G|CSDE1_ENST00000339438.6_Splice_Site_p.G594G|CSDE1_ENST00000534699.1_Splice_Site_p.G625G|CSDE1_ENST00000369530.1_Splice_Site_p.G640G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding			51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			CTTTCATATCGCCTGTAAAAC	0.428000																								0							SO:0001630	splice_region_variant			ENST00000358528.4	1	0	hg19	CCDS30812.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	1	0	0	51	221	0	51	1	1	276	1139	0	51	2		0	0	0	0	0	2	1	1	50	218	0	51	2								-3.312640	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972124	0.970000	1	9.400000e-01	1
CSDE1	7812	broad.mit.edu	37	1	115269646	115269646	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115269646G>A	ENST00000358528.4	-	13	1848	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	CSDE1_ENST00000438362.2_Silent_p.A520A|CSDE1_ENST00000261443.5_Silent_p.A443A|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000534699.1_Silent_p.A474A|CSDE1_ENST00000369530.1_Silent_p.A489A	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding			51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			CCACATCCTTGGCTTGAAAAG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000358528.4	1	1	hg19	CCDS30812.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	1	0	1	63	248	0	74	1	1	243	856	0	74	2		0	0	0	0	0	2	1	1	59	238	0	74	2								-3.243257	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.979229	0.980000	1	9.500000e-01	1
CSDE1	7812	broad.mit.edu	37	1	115272969	115272969	+	Silent	SNP	G	G	A	rs147370534	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272969G>A	ENST00000358528.4	-	12	1692	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	CSDE1_ENST00000438362.2_Silent_p.S468S|CSDE1_ENST00000261443.5_Silent_p.S391S|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000339438.6_Silent_p.S391S|CSDE1_ENST00000534699.1_Silent_p.S422S|CSDE1_ENST00000369530.1_Silent_p.S437S	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding			51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			GATCTGAATGGGAATGAAATG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000358528.4	1	1	hg19	CCDS30812.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	1	0	1	84	338	0	64	1	1	373	916	0	64	2		0	0	0	0	0	2	1	1	83	328	0	64	2								-3.107948	1	0	121412	1	29	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.984711	0.980000	1	9.600000e-01	1
CSDE1	7812	broad.mit.edu	37	1	115275328	115275328	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115275328A>G	ENST00000358528.4	-	10	1373	c.947T>C	c.(946-948)gTt>gCt	p.V316A	CSDE1_ENST00000438362.2_Missense_Mutation_p.V362A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding			51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			ATTAAACCTAACATGGTCACC	0.418000																								0							SO:0001583	missense			ENST00000358528.4	1	1	hg19	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977568	0.74360	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.114155	0.64402	D	0.000011	T	0.41743	0.1172	L	0.47190	1.495	0.58432	D	0.999999	B;B;P	0.35872	0.189;0.39;0.525	B;B;B	0.34722	0.024;0.092;0.188	T	0.52601	-0.8554	9	0.87932	D	0	-7.1035	16.2903	0.82747	1.0:0.0:0.0:0.0	.	331;316;362	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	A	285;362;316;285;186;331;316	.	ENSP00000261443:V285A	V	-	2	0	CSDE1	115076851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	GTT		TCGA-IB-7651-01A-11D-2154-08	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	0	0	0	21	562	0	115	1	1	63	1374	0	115	2		0	0	0	0	0	2	1	9.999973e-01	21	557	0	115	2								-3.797490	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.380000	0.240000	0.560000	0.380000	0.398056	0.380000	0	3.100000e-01	4.800000e-01
SDF4	51150	broad.mit.edu	37	1	1153037	1153037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1153037G>A	ENST00000360001.6	-	7	1206	c.944C>T	c.(943-945)gCg>gTg	p.A315V	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4			11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CTCGTTCAGCGCGTTGTACTC	0.652000																								0							SO:0001583	missense			ENST00000360001.6	1	1	hg19	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	g	36	5.899314	0.97081	.	.	ENSG00000078808	ENST00000360001	T	0.09073	3.02	5.33	5.33	0.75918	EF-hand-like domain (1);	0.050815	0.85682	D	0.000000	T	0.30386	0.0763	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.01858	-1.1259	10	0.87932	D	0	-28.0616	18.0268	0.89271	0.0:0.0:1.0:0.0	.	315	Q9BRK5	CAB45_HUMAN	V	315	ENSP00000353094:A315V	ENSP00000353094:A315V	A	-	2	0	SDF4	1142900	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.440000	0.97547	2.498000	0.84270	0.479000	0.44913	GCG		TCGA-IB-7651-01A-11D-2154-08	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	1	0	1	113	479	0	93	1	1	275	440	0	93	2		0	0	0	0	0	2	1	1	111	473	0	93	2								-20.000000	1	1	121370	3	37	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988738	0.980000	1	9.700000e-01	1
SDF4	51150	broad.mit.edu	37	1	1154014	1154014	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1154014C>T	ENST00000360001.6	-	6	999		c.e6-1		SDF4_ENST00000263741.7_Splice_Site			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4			11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CCGTCCTGGTCTGCGAGACGG	0.677000																								0							SO:0001630	splice_region_variant			ENST00000360001.6	1	1	hg19	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.668782	0.29604	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000403997	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2798	0.82670	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDF4	1143877	1.000000	0.71417	0.987000	0.45799	0.027000	0.11550	6.972000	0.76110	2.058000	0.61347	0.305000	0.20034	.		TCGA-IB-7651-01A-11D-2154-08	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	1	0	1	45	305	0	57	0	2.819609e-01	0	8	0	57	2		0	0	0	0	0	2	1	1	45	302	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.949421	0.950000	1	8.900000e-01	9.900000e-01
TSPAN2	10100	broad.mit.edu	37	1	115601596	115601596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115601596G>A	ENST00000369516.2	-	5	383	c.352C>T	c.(352-354)Cga>Tga	p.R118*	TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*|TSPAN2_ENST00000491992.1_5'Flank	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2			10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)			TGAACATGTCGGATAGCCTGA	0.418000																								0							SO:0001587	stop_gained			ENST00000369516.2	0	1	hg19	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780335	0.49891	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	.	.	.	5.8	4.87	0.63330	.	0.441004	0.26176	N	0.025888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	9.1783	0.37125	0.0:0.1415:0.5664:0.2921	.	.	.	.	X	118;93;112;118	.	ENSP00000358527:R118X	R	-	1	2	TSPAN2	115403119	0.952000	0.32445	0.749000	0.31150	0.161000	0.22273	2.305000	0.43664	1.424000	0.47217	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	1	0	1	159	546	1	110	0	9.998187e-01	3	59	1	110	4		0	0	0	0	0	2	1	1	157	539	1	109	21								-3.895889	1	1	121412	5	41	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.993780	0.990000	1	9.800000e-01	1
PTCHD2	57540	broad.mit.edu	37	1	11561444	11561444	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561444C>T	ENST00000294484.6	+	2	533	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2			76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			CAGTTTGGATCCTGGGGGCGG	0.597000																								0							SO:0001583	missense			ENST00000294484.6	1	1	hg19	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979915	0.92982	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.25579	1.79;1.79	5.67	5.67	0.87782	.	0.116909	0.64402	D	0.000012	T	0.36853	0.0982	L	0.29908	0.895	0.53005	D	0.999964	D	0.62365	0.991	P	0.57502	0.822	T	0.09840	-1.0656	10	0.87932	D	0	-35.2713	18.751	0.91814	0.0:1.0:0.0:0.0	.	132	Q9P2K9	PTHD2_HUMAN	F	132	ENSP00000294484:S132F;ENSP00000374226:S132F	ENSP00000294484:S132F	S	+	2	0	PTCHD2	11484031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.623000	0.67757	2.666000	0.90696	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	1	51	159	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	51	159	0	53	2								-20.000000	1	0	120964	1	24	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977149	0.980000	1	9.400000e-01	1
PTCHD2	57540	broad.mit.edu	37	1	11561540	11561540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561540G>A	ENST00000294484.6	+	2	629	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2			76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			CTCGGCAACCGCTCGCGGCAA	0.687000																								0							SO:0001583	missense			ENST00000294484.6	1	1	hg19	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820313	0.16678	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23348	1.91;1.91	5.52	1.32	0.21799	.	0.823009	0.11554	N	0.552444	T	0.10852	0.0265	N	0.08118	0	0.23487	N	0.997573	B	0.06786	0.001	B	0.04013	0.001	T	0.35871	-0.9771	10	0.19590	T	0.45	-18.9983	5.3673	0.16121	0.243:0.2562:0.5008:0.0	.	164	Q9P2K9	PTHD2_HUMAN	H	164	ENSP00000294484:R164H;ENSP00000374226:R164H	ENSP00000294484:R164H	R	+	2	0	PTCHD2	11484127	0.979000	0.34478	0.985000	0.45067	0.372000	0.29890	0.086000	0.14935	0.292000	0.22492	-0.266000	0.10368	CGC		TCGA-IB-7651-01A-11D-2154-08	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	1	28	118	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	27	117	0	28	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.960000	0.810000	1.000000	0.990000	0.950711	0.960000	1	9.000000e-01	9.900000e-01
PTCHD2	57540	broad.mit.edu	37	1	11561811	11561811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561811G>A	ENST00000294484.6	+	2	900	c.762G>A	c.(760-762)tcG>tcA	p.S254S	PTCHD2_ENST00000389575.3_Silent_p.S254S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2			76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			GAGGCGCCTCGCGCTGGGACT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000294484.6	0	1	hg19	CCDS41247.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	1	9	68	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.945221e-01	9	66	0	10	2								-16.431210	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.840000	0.500000	1.000000	0.990000	0.825301	0.840000	0	6.800000e-01	9.600000e-01
NGF	4803	broad.mit.edu	37	1	115829086	115829086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829086C>T	ENST00000369512.2	-	3	499	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)			13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Clenbuterol(DB01407)	TTGAAGGGGGCAGCACCACCG	0.587000																								0							SO:0001583	missense			ENST00000369512.2	1	1	hg19	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	5.594	0.294351	0.10567	.	.	ENSG00000134259	ENST00000369512	T	0.62232	0.04	5.27	-1.42	0.08913	.	1.018970	0.07813	N	0.958416	T	0.12860	0.0312	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16482	-1.0401	10	0.33141	T	0.24	-7.1349	4.6352	0.12521	0.4107:0.3844:0.0:0.2049	.	111	P01138	NGF_HUMAN	T	111	ENSP00000358525:A111T	ENSP00000358525:A111T	A	-	1	0	NGF	115630609	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	0.400000	0.20932	-0.171000	0.10797	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	1	0	1	45	151	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	1	45	148	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972911	0.970000	1	9.400000e-01	1
NGF	4803	broad.mit.edu	37	1	115829359	115829359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829359G>A	ENST00000369512.2	-	3	226	c.58C>T	c.(58-60)Cca>Tca	p.P20S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)			13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Clenbuterol(DB01407)	TCTGAGTGTGGTTCCGCCTGT	0.512000																								0							SO:0001583	missense			ENST00000369512.2	1	1	hg19	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121881	0.56613	.	.	ENSG00000134259	ENST00000369512	T	0.64085	-0.08	5.36	2.37	0.29283	.	0.115420	0.64402	D	0.000017	T	0.39279	0.1072	L	0.56280	1.765	0.42726	D	0.993697	B	0.10296	0.003	B	0.11329	0.006	T	0.43393	-0.9394	10	0.59425	D	0.04	-2.5373	10.2581	0.43410	0.0725:0.2513:0.6762:0.0	.	20	P01138	NGF_HUMAN	S	20	ENSP00000358525:P20S	ENSP00000358525:P20S	P	-	1	0	NGF	115630882	1.000000	0.71417	0.882000	0.34594	0.722000	0.41435	3.015000	0.49599	0.614000	0.30107	0.467000	0.42956	CCA		TCGA-IB-7651-01A-11D-2154-08	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	1	0	1	49	328	0	76	0	4.804365e-02	0	3	0	76	2		0	0	0	0	0	2	1	1	49	325	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.953880	0.960000	1	9.000000e-01	9.900000e-01
VANGL1	81839	broad.mit.edu	37	1	116233771	116233771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116233771C>T	ENST00000355485.2	+	8	1617	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.4_Missense_Mutation_p.P447L|VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1			27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)			AGTGCGGGCCCCACCCTGCAA	0.542000																								0							SO:0001583	missense			ENST00000355485.2	1	1	hg19	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996543	0.93167	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94849	0.8012	10	0.54805	T	0.06	-16.6377	18.5856	0.91188	0.0:1.0:0.0:0.0	.	447;449	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	L	449;447;449;449	ENSP00000347672:P449L;ENSP00000358523:P447L;ENSP00000310800:P449L;ENSP00000358522:P449L	ENSP00000310800:P449L	P	+	2	0	VANGL1	116035294	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.651000	0.83577	2.617000	0.88574	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1	1	0	1	40	214	0	64	1	9.826811e-01	16	21	0	64	2		0	0	0	0	0	2	1	1	38	207	0	63	2								-3.096687	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.957587	0.960000	1	9.100000e-01	1
SLC22A15	55356	broad.mit.edu	37	1	116562216	116562216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116562216C>T	ENST00000369503.4	+	3	444	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A105V|RP11-159M11.2_ENST00000453128.1_RNA	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15			17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)			TTTTTAATTGCCAACAGATCC	0.378000																								0							SO:0001583	missense			ENST00000369503.4	0	1	hg19	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576599	0.45902	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76709	-1.04;-0.46	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.229842	0.46442	D	0.000283	T	0.48995	0.1531	N	0.08118	0	0.31911	N	0.61465	B;B	0.30741	0.293;0.153	B;B	0.34652	0.187;0.086	T	0.58679	-0.7594	10	0.87932	D	0	.	12.5588	0.56269	0.0:0.7822:0.2178:0.0	.	105;105	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	V	105	ENSP00000358515:A105V;ENSP00000358514:A105V	ENSP00000358514:A105V	A	+	2	0	SLC22A15	116363739	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.662000	0.54510	2.731000	0.93534	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	0	0	0	8	85	0	18	1	3.154479e-01	3	9	0	18	2		0	0	0	0	0	2	1	9.890372e-01	8	82	0	18	2								-5.897826	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.760000	0.400000	0.990000	0.850000	0.753169	0.760000	0	5.700000e-01	9.200000e-01
SLC22A15	55356	broad.mit.edu	37	1	116577810	116577810	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116577810T>G	ENST00000369503.4	+	7	1077	c.947T>G	c.(946-948)tTt>tGt	p.F316C	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15			17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)			AATTGCAGGTTTGTGTGCAGC	0.443000																								0							SO:0001583	missense			ENST00000369503.4	1	1	hg19	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729028	0.69074	.	.	ENSG00000163393	ENST00000369503	T	0.63580	-0.05	5.76	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054834	0.85682	D	0.000000	T	0.57577	0.2063	M	0.81179	2.53	0.80722	D	1	P	0.35894	0.526	B	0.40982	0.345	T	0.67722	-0.5597	10	0.72032	D	0.01	.	11.8102	0.52179	0.1313:0.0:0.0:0.8687	.	316	Q8IZD6	S22AF_HUMAN	C	316	ENSP00000358515:F316C	ENSP00000358515:F316C	F	+	2	0	SLC22A15	116379333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.529000	0.60588	2.198000	0.70561	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	1	0	1	80	312	0	73	0	7.762704e-01	1	12	0	73	2		0	0	0	0	0	2	1	1	78	307	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.984204	0.980000	1	9.600000e-01	1
ATP1A1	476	broad.mit.edu	37	1	116930090	116930090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116930090G>T	ENST00000295598.5	+	4	616	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	ATP1A1_ENST00000537345.1_Nonsense_Mutation_p.E122*|ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E91*	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide			47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGCTGCTACAGAAGAGGAACC	0.423000																								0							SO:0001587	stop_gained			ENST00000295598.5	0	1	hg19	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	41	8.618993	0.98888	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.2055	0.93728	0.0:0.0:1.0:0.0	.	.	.	.	X	91;122;122;91;121;91	.	ENSP00000295598:E122X	E	+	1	0	ATP1A1	116731613	1.000000	0.71417	0.964000	0.40570	0.907000	0.53573	9.657000	0.98554	2.773000	0.95371	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	0	0	0	13	393	0	71	1	1	9	2468	0	71	2		0	0	0	0	0	2	1	9.994873e-01	13	385	0	70	2								-12.498500	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.340000	0.190000	0.550000	0.340000	0.360512	0.340000	0	2.600000e-01	4.500000e-01
ATP1A1	476	broad.mit.edu	37	1	116943830	116943830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116943830G>A	ENST00000295598.5	+	20	3049	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	ATP1A1_ENST00000537345.1_Missense_Mutation_p.D933N|ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide			47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GCAGTGGGCCGACTTGGTCAT	0.507000																								0							SO:0001583	missense			ENST00000295598.5	1	1	hg19	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709734	0.96821	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	L	0.59967	1.855	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.62649	0.846;0.905	D	0.95486	0.8565	10	0.56958	D	0.05	.	18.3091	0.90193	0.0:0.0:1.0:0.0	.	933;933	F5H3A1;P05023	.;AT1A1_HUMAN	N	933;102;933;902;100	ENSP00000295598:D933N;ENSP00000445306:D933N;ENSP00000358508:D902N;ENSP00000396236:D100N	ENSP00000295598:D933N	D	+	1	0	ATP1A1	116745353	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.657000	0.98554	2.640000	0.89533	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	1	0	1	14	186	0	56	1	1	507	3106	0	56	2		0	0	0	0	0	2	1	9.997636e-01	14	183	0	56	2								-18.114610	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.710000	0.420000	0.970000	0.720000	0.720441	0.710000	0	5.600000e-01	8.800000e-01
CD58	965	broad.mit.edu	37	1	117078761	117078761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117078761G>A	ENST00000369489.5	-	3	520	c.454C>T	c.(454-456)Cga>Tga	p.R152*	CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*|CD58_ENST00000457047.2_Nonsense_Mutation_p.R152*	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule			9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)			ATAAGTCCTCGATGGCTGTTG	0.373000																								0							SO:0001587	stop_gained			ENST00000369489.5	0	1	hg19	CCDS888.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235409	0.39498	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	.	.	.	3.36	-6.71	0.01760	.	13.333200	0.00829	N	0.001654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	14.9149	7.5945	0.28039	0.0:0.3752:0.2014:0.4234	.	.	.	.	X	152	.	ENSP00000358499:R152X	R	-	1	2	CD58	116880284	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.392000	0.00241	-1.425000	0.01997	-0.182000	0.12963	CGA		TCGA-IB-7651-01A-11D-2154-08	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	1	0	1	44	170	0	62	1	1	4	103	0	62	2		0	0	0	0	0	2	1	1	44	169	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.969982	0.970000	1	9.300000e-01	1
IGSF3	3321	broad.mit.edu	37	1	117120136	117120136	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117120136A>G	ENST00000369486.3	-	11	4148	c.3383T>C	c.(3382-3384)tTc>tCc	p.F1128S	IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S|IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3			62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)			GAAGAAGACGAAGTAGAAGAG	0.498000																								0							SO:0001583	missense			ENST00000369486.3	1	1	hg19	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258429	0.80246	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.04603	3.6;3.59;3.59	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.47716	1.5	0.51233	D	0.999915	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.32798	-0.9893	10	0.40728	T	0.16	-37.6565	12.5239	0.56075	1.0:0.0:0.0:0.0	.	1128;1148	O75054;A6NJZ6	IGSF3_HUMAN;.	S	1128;1148;1148	ENSP00000358498:F1128S;ENSP00000358495:F1148S;ENSP00000321184:F1148S	ENSP00000321184:F1148S	F	-	2	0	IGSF3	116921659	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.403000	0.90208	2.056000	0.61249	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	1	0	1	51	218	0	66	1	9.992331e-01	21	28	0	66	2		0	0	0	0	0	2	1	1	50	209	0	65	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972407	0.970000	1	9.400000e-01	1
IGSF3	3321	broad.mit.edu	37	1	117159032	117159032	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117159032A>G	ENST00000369486.3	-	3	856	c.91T>C	c.(91-93)Tac>Cac	p.Y31H	IGSF3_ENST00000318837.6_Missense_Mutation_p.Y31H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Y31H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3			62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)			TCCGTGCGGTACAAGGGTCCT	0.527000																								0							SO:0001583	missense			ENST00000369486.3	0	1	hg19	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537755	0.65085	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64438	-0.1;-0.1;-0.1	4.65	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.424946	0.24710	N	0.036229	T	0.73187	0.3555	M	0.80847	2.515	0.35189	D	0.773203	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.79176	-0.1911	10	0.87932	D	0	-26.1169	12.0593	0.53555	1.0:0.0:0.0:0.0	.	31;31	O75054;A6NJZ6	IGSF3_HUMAN;.	H	31	ENSP00000358498:Y31H;ENSP00000358495:Y31H;ENSP00000321184:Y31H	ENSP00000321184:Y31H	Y	-	1	0	IGSF3	116960555	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	4.215000	0.58534	1.932000	0.55993	0.454000	0.30748	TAC		TCGA-IB-7651-01A-11D-2154-08	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	0	0	0	22	190	0	47	1	5.809748e-01	2	16	0	47	2		0	0	0	0	0	2	1	9.999138e-01	11	123	0	71	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.890000	0.640000	1.000000	0.990000	0.878193	0.890000	1	7.700000e-01	9.700000e-01
FBXO44	93611	broad.mit.edu	37	1	11718605	11718605	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11718605C>A	ENST00000251547.5	+	4	490	c.408C>A	c.(406-408)tcC>tcA	p.S136S	FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.P127T|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376770.1_Silent_p.S136S	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44			8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			GCCTCAAGTCCCAGGTGGTGG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000251547.5	1	1	hg19	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231723	0.58777	.	.	ENSG00000132879	ENST00000376768	T	0.34072	1.38	5.37	4.35	0.52113	.	1.052530	0.07394	N	0.889643	T	0.28665	0.0710	.	.	.	0.80722	D	1	B	0.26363	0.147	B	0.21360	0.034	T	0.20706	-1.0267	9	0.49607	T	0.09	.	7.6947	0.28587	0.0:0.8095:0.0:0.1905	.	127	B7Z1P2	.	T	127	ENSP00000365959:P127T	ENSP00000365959:P127T	P	+	1	0	FBXO44	11641192	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.332000	0.19751	2.520000	0.84964	0.549000	0.68633	CCA		TCGA-IB-7651-01A-11D-2154-08	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	0	0	0	42	168	0	34	1	9.979447e-01	7	34	0	34	2		0	0	0	0	0	2	1	1	41	166	0	34	2								-3.547420	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.967831	0.970000	1	9.300000e-01	1
CD2	914	broad.mit.edu	37	1	117297122	117297122	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297122T>G	ENST00000369478.3	+	1	116	c.8T>G	c.(7-9)tTt>tGt	p.F3C	CD2_ENST00000369477.1_Missense_Mutation_p.F3C	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule			18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Alefacept(DB00092)	AAGATGAGCTTTCCATGTAAA	0.438000													NSCLC(14;263 555 26380 43512 51332)											0							SO:0001583	missense			ENST00000369478.3	1	1	hg19	CCDS889.1	.	.	.	.	.	.	.	.	.	.	T	4.663	0.123267	0.08931	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.84589	-1.87	3.87	2.71	0.32032	.	0.941043	0.08871	N	0.881570	T	0.57315	0.2045	N	0.08118	0	0.09310	N	1	P;P;P	0.51653	0.79;0.947;0.947	B;B;B	0.44044	0.275;0.436;0.439	T	0.55392	-0.8148	10	0.87932	D	0	-4.8105	6.512	0.22226	0.215:0.0:0.0:0.785	.	3;3;3	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	C	3	ENSP00000358490:F3C	ENSP00000358489:F3C	F	+	2	0	CD2	117098645	0.009000	0.17119	0.001000	0.08648	0.002000	0.02628	1.691000	0.37721	0.624000	0.30286	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	1	0	1	80	335	0	94	0	1	0	158	0	94	2		0	0	0	0	0	2	1	1	79	333	0	93	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983324	0.980000	1	9.600000e-01	1
CD2	914	broad.mit.edu	37	1	117297274	117297274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297274C>T	ENST00000369478.3	+	2	191	c.83C>T	c.(82-84)aCg>aTg	p.T28M	CD2_ENST00000369477.1_Missense_Mutation_p.T28M	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule			18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Alefacept(DB00092)	AAAGAGATTACGAATGCCTTG	0.413000													NSCLC(14;263 555 26380 43512 51332)											0							SO:0001583	missense			ENST00000369478.3	1	1	hg19	CCDS889.1	.	.	.	.	.	.	.	.	.	.	C	3.750	-0.051838	0.07362	0.0	2.33E-4	ENSG00000116824	ENST00000369478;ENST00000369477	D	0.82803	-1.65	2.63	-5.27	0.02763	.	6.445950	0.00357	N	0.000022	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B;B	0.25441	0.0;0.126;0.0	B;B;B	0.19148	0.0;0.024;0.0	T	0.35773	-0.9775	10	0.46703	T	0.11	2.157	1.0468	0.01571	0.2041:0.1478:0.3584:0.2897	.	28;28;28	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	M	28	ENSP00000358490:T28M	ENSP00000358489:T28M	T	+	2	0	CD2	117098797	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.474000	0.00228	-2.418000	0.00566	-0.941000	0.02677	ACG		TCGA-IB-7651-01A-11D-2154-08	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	1	0	1	57	463	0	110	0	9.998564e-01	0	106	0	110	2		0	0	0	0	0	2	1	1	57	458	0	110	2								-3.318794	1	1	121410	11	43	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.941889	0.950000	1	8.800000e-01	9.900000e-01
CD101	9398	broad.mit.edu	37	1	117556224	117556224	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117556224T>C	ENST00000256652.4	+	4	1096	c.1038T>C	c.(1036-1038)agT>agC	p.S346S	CD101_ENST00000369470.1_Silent_p.S346S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule			49					AGAGAGCAAGTCAAGGAGAGC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000256652.4	1	1	hg19	CCDS891.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	1	0	1	29	267	0	68	0	1.903240e-01	0	8	0	68	2		0	0	0	0	0	2	1	1	27	264	0	68	2								-11.206780	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.890000	0.660000	1.000000	0.990000	0.883614	0.890000	1	7.800000e-01	9.700000e-01
CD101	9398	broad.mit.edu	37	1	117568492	117568492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117568492G>A	ENST00000256652.4	+	8	2848	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	RP11-27K13.3_ENST00000445523.1_RNA|RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000369470.1_Silent_p.E930E	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule			49					CATCCGATGAGTCACAGCGGA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000256652.4	1	1	hg19	CCDS891.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	0	0	1	41	230	0	60	0	4.672524e-01	0	10	0	60	2		0	0	0	0	0	2	1	1	40	225	0	60	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.956535	0.960000	1	9.100000e-01	1
TTF2	8458	broad.mit.edu	37	1	117618864	117618864	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117618864A>C	ENST00000369466.4	+	6	1382	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II			50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)			TGATCAAACAAATCCAGGAGC	0.473000																								0							SO:0001583	missense			ENST00000369466.4	1	1	hg19	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031989	0.35893	.	.	ENSG00000116830	ENST00000369466	D	0.88509	-2.39	5.41	1.8	0.24995	.	0.000000	0.36101	N	0.002792	D	0.90580	0.7047	M	0.77103	2.36	0.48135	D	0.999592	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.89087	0.3480	10	0.62326	D	0.03	-15.3366	7.9556	0.30040	0.6752:0.0:0.3248:0.0	.	446;446	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	H	446	ENSP00000358478:Q446H	ENSP00000358478:Q446H	Q	+	3	2	TTF2	117420387	1.000000	0.71417	0.964000	0.40570	0.023000	0.10783	1.772000	0.38552	0.104000	0.17725	-1.144000	0.01866	CAA		TCGA-IB-7651-01A-11D-2154-08	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3	1	0	1	45	187	0	51	1	9.573517e-01	10	14	0	51	2		0	0	0	0	0	2	1	1	45	184	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.969242	0.970000	1	9.300000e-01	1
TRIM45	80263	broad.mit.edu	37	1	117658224	117658224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117658224C>A	ENST00000256649.4	-	4	1966	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C|TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45			23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)			TGATGCAGACCCACACAGTAT	0.488000																								0							SO:0001583	missense			ENST00000256649.4	1	1	hg19	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655905	0.14580	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.83755	-1.76;-1.76;-1.76	4.91	2.95	0.34219	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.406040	0.28595	N	0.014782	T	0.52125	0.1715	N	0.10837	0.055	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.51865	-0.8651	10	0.35671	T	0.21	-7.111	12.0408	0.53452	0.0:0.5466:0.4534:0.0	.	462;480	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	C	480;462;423	ENSP00000256649:W480C;ENSP00000358476:W462C;ENSP00000358473:W423C	ENSP00000256649:W480C	W	-	3	0	TRIM45	117459747	1.000000	0.71417	0.998000	0.56505	0.267000	0.26476	2.562000	0.45914	1.292000	0.44672	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	1	0	0	29	338	0	94	1	1.931922e-01	2	8	0	94	2		0	0	0	0	0	2	1	1	29	331	0	94	2								-2.744762	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.810000	0.570000	0.990000	0.830000	0.808036	0.810000	0	6.800000e-01	9.300000e-01
VTCN1	79679	broad.mit.edu	37	1	117695864	117695864	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117695864G>T	ENST00000369458.3	-	4	651	c.573C>A	c.(571-573)ttC>ttA	p.F191L	VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L|VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1	p.F191L(1)		12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)			AGACTTCCGAGAAGTTGGCTC	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369458.3	1	1	hg19	CCDS894.1	.	.	.	.	.	.	.	.	.	.	G	4.078	0.012318	0.07912	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.18174	3.74;3.73;2.23;4.12	5.34	2.48	0.30137	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090168	0.49305	D	0.000159	T	0.01254	0.0041	N	0.01874	-0.695	0.30785	N	0.741619	B;B	0.23128	0.08;0.055	B;B	0.22386	0.039;0.018	T	0.45600	-0.9250	10	0.08837	T	0.75	-18.4057	4.6641	0.12657	0.2591:0.1737:0.5672:0.0	.	75;191	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	L	191;194;75;96	ENSP00000358470:F191L;ENSP00000351899:F194L;ENSP00000328168:F75L;ENSP00000444724:F96L	ENSP00000328168:F75L	F	-	3	2	VTCN1	117497387	0.991000	0.36638	1.000000	0.80357	0.859000	0.49053	0.072000	0.14617	0.948000	0.37687	-0.128000	0.14901	TTC		TCGA-IB-7651-01A-11D-2154-08	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	1	0	0	37	401	0	78	0	3.431866e-01	0	14	0	78	2		0	0	0	0	0	2	1	1	37	396	0	78	2								-11.253070	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.850000	0.630000	0.990000	0.890000	0.849171	0.850000	1	7.400000e-01	9.500000e-01
MAN1A2	10905	broad.mit.edu	37	1	117945040	117945040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117945040G>A	ENST00000356554.3	+	2	1270	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2			27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)			TGACATAAGAGAGAAAAGGGA	0.358000													Ovarian(33;199 881 8228 13687 31538)											0							SO:0001583	missense			ENST00000356554.3	1	1	hg19	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146089	0.37923	.	.	ENSG00000198162	ENST00000356554	D	0.83673	-1.75	5.76	-3.91	0.04168	.	0.499176	0.22515	N	0.059058	T	0.59851	0.2224	L	0.49126	1.545	0.47621	D	0.999476	B	0.02656	0.0	B	0.06405	0.002	T	0.39921	-0.9590	10	0.33141	T	0.24	-0.5461	10.915	0.47131	0.169:0.1246:0.7064:0.0	.	179	O60476	MA1A2_HUMAN	K	179	ENSP00000348959:E179K	ENSP00000348959:E179K	E	+	1	0	MAN1A2	117746563	1.000000	0.71417	0.055000	0.19348	0.909000	0.53808	2.466000	0.45084	-0.759000	0.04684	-0.136000	0.14681	GAG		TCGA-IB-7651-01A-11D-2154-08	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	1	0	1	55	240	0	66	1	9.999974e-01	16	70	0	66	2		0	0	0	0	0	2	1	1	54	233	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.974094	0.970000	1	9.400000e-01	1
FAM46C	54855	broad.mit.edu	37	1	118166379	118166379	+	Missense_Mutation	SNP	G	G	A	rs149654076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118166379G>A	ENST00000369448.3	+	2	1136	c.889G>A	c.(889-891)Gct>Act	p.A297T		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C			15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)			AAACCACTTCGCTGAAGAAGA	0.512000			Mis, F, O		MM					Multiple Myeloma(3;1.13e-06)					Rec	yes		1	1p12	54855	family with sequence similarity 46, member C		L	0							SO:0001583	missense			ENST00000369448.3	1	0	hg19	CCDS896.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	6.588	0.476815	0.12521	9.08E-4	0.002093	ENSG00000183508	ENST00000369448	T	0.22336	1.96	5.7	4.78	0.61160	Domain of unknown function DUF1693 (1);	0.501193	0.19639	N	0.109500	T	0.05914	0.0154	L	0.42245	1.32	0.23445	N	0.997669	B	0.23591	0.088	B	0.20577	0.03	T	0.28808	-1.0032	10	0.20519	T	0.43	-12.3519	7.4156	0.27042	0.0774:0.0:0.6044:0.3182	.	297	Q5VWP2	FA46C_HUMAN	T	297	ENSP00000358458:A297T	ENSP00000358458:A297T	A	+	1	0	FAM46C	117967902	0.961000	0.32948	0.800000	0.32199	0.958000	0.62258	2.228000	0.42981	1.381000	0.46364	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	1	0	1	49	197	0	47	0	1	0	113	0	47	2		0	0	0	0	0	2	1	1	49	192	0	47	2								-2.779624	1	1	121412	182	54	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972449	0.970000	1	9.400000e-01	1
GDAP2	54834	broad.mit.edu	37	1	118441693	118441693	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441693G>T	ENST00000369443.5	-	7	1031	c.782C>A	c.(781-783)cCt>cAt	p.P261H	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2			16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)			TGGAGCACCAGGTTTCTCACT	0.433000																								0							SO:0001583	missense			ENST00000369443.5	1	1	hg19	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566958	0.65651	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.40476	1.3;1.03	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69709	-0.5072	10	0.87932	D	0	-14.751	19.6366	0.95736	0.0:0.0:1.0:0.0	.	261;261	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	H	261	ENSP00000358451:P261H;ENSP00000358450:P261H	ENSP00000358450:P261H	P	-	2	0	GDAP2	118243216	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	9.046000	0.93817	2.643000	0.89663	0.585000	0.79938	CCT		TCGA-IB-7651-01A-11D-2154-08	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	1	0	0	62	593	0	139	1	9.712284e-01	7	49	0	139	2		0	0	0	0	0	2	1	1	62	585	0	138	2								-3.221883	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.920000	0.750000	1.000000	0.990000	0.914886	0.920000	1	8.400000e-01	9.800000e-01
GDAP2	54834	broad.mit.edu	37	1	118441835	118441835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441835T>C	ENST00000369443.5	-	7	889	c.640A>G	c.(640-642)Act>Gct	p.T214A	GDAP2_ENST00000464026.1_5'Flank|GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2			16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)			TTTTGGTAAGTACCCTGTGTC	0.423000																								0							SO:0001583	missense			ENST00000369443.5	1	1	hg19	CCDS897.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117044	0.37339	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.20332	2.08;2.08	5.44	3.12	0.35913	Appr-1-p processing (1);	0.253796	0.46442	D	0.000283	T	0.02230	0.0069	N	0.02916	-0.46	0.36223	D	0.852104	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.41787	-0.9489	10	0.12103	T	0.63	-5.7334	8.8728	0.35327	0.0:0.2142:0.0:0.7858	.	214;214	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	A	214	ENSP00000358451:T214A;ENSP00000358450:T214A	ENSP00000358450:T214A	T	-	1	0	GDAP2	118243358	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.999000	0.40806	0.375000	0.24679	-0.361000	0.07541	ACT		TCGA-IB-7651-01A-11D-2154-08	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	0	0	1	52	426	1	98	1	8.342665e-01	8	33	1	98	3		0	0	0	0	0	2	1	9.999972e-01	51	421	1	98	17								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.940000	0.790000	1.000000	0.990000	0.936618	0.940000	1	8.700000e-01	9.900000e-01
GDAP2	54834	broad.mit.edu	37	1	118455300	118455300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118455300G>A	ENST00000369443.5	-	4	571	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2			16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)			TCACCTGTTCGGCACCCTGAA	0.398000																								0							SO:0001587	stop_gained			ENST00000369443.5	0	1	hg19	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844187	0.97016	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.9	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2636	14.3031	0.66368	0.0:0.0:0.6772:0.3228	.	.	.	.	X	108	.	ENSP00000358450:R108X	R	-	1	2	GDAP2	118256823	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.369000	0.66138	1.470000	0.48102	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	1	0	0	73	333	0	81	1	9.742255e-01	6	23	0	81	2		0	0	0	0	0	2	1	1	73	327	0	80	2								-2.743311	1	1	121412	1	32	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980148	0.980000	1	9.500000e-01	1
GDAP2	54834	broad.mit.edu	37	1	118462854	118462854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118462854G>A	ENST00000369443.5	-	2	376	c.127C>T	c.(127-129)Cga>Tga	p.R43*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2			16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)			AAAGGTGATCGAACAGTGTCT	0.358000																								0							SO:0001587	stop_gained			ENST00000369443.5	0	1	hg19	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500671	0.85176	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.22	-0.0107	0.13995	.	0.392143	0.28067	N	0.016740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.2569	11.4034	0.49883	0.0:0.0671:0.5995:0.3334	.	.	.	.	X	43	.	ENSP00000358450:R43X	R	-	1	2	GDAP2	118264377	0.980000	0.34600	0.089000	0.20774	0.378000	0.30076	0.652000	0.24888	-0.085000	0.12573	-0.271000	0.10264	CGA		TCGA-IB-7651-01A-11D-2154-08	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	0	0	0	32	308	1	67	0	5.552002e-01	0	30	1	67	3		0	0	0	0	0	2	1	1	31	304	0	66	2								-3.221884	1	1	121412	1	31	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.890000	0.660000	1.000000	0.990000	0.879003	0.890000	1	7.800000e-01	9.700000e-01
WDR3	10885	broad.mit.edu	37	1	118492397	118492397	+	Silent	SNP	A	A	G	rs111307478		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118492397A>G	ENST00000349139.5	+	14	1595	c.1548A>G	c.(1546-1548)gcA>gcG	p.A516A		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3			49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)			CAGGTGGTGCAGATAAATCTG	0.313000																								0							SO:0001819	synonymous_variant			ENST00000349139.5	1	1	hg19	CCDS898.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	1	0	1	56	228	0	38	1	9.999974e-01	33	48	0	38	2		0	0	0	0	0	2	1	1	55	227	0	38	2								-20.000000	1	1	121412	1	37	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.975853	0.970000	1	9.400000e-01	1
WDR3	10885	broad.mit.edu	37	1	118495213	118495213	+	Silent	SNP	G	G	A	rs139563237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118495213G>A	ENST00000349139.5	+	19	2126	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3			49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)			TTGTATCATCGTCCCATGACA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000349139.5	1	1	hg19	CCDS898.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	1	0	1	115	411	0	105	1	1	57	92	0	105	2		0	0	0	0	0	2	1	1	115	405	0	105	2								-20.000000	1	1	121412	6	44	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990356	0.980000	1	9.700000e-01	1
WDR3	10885	broad.mit.edu	37	1	118501532	118501532	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118501532G>T	ENST00000349139.5	+	26	2629		c.e26-1		SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3			49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)			TTTTCTATCAGGATTCACTTT	0.383000																								0							SO:0001630	splice_region_variant			ENST00000349139.5	1	1	hg19	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474166	0.63737	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6756	0.95930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR3	118303055	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.330000	0.96422	2.664000	0.90586	0.543000	0.68304	.		TCGA-IB-7651-01A-11D-2154-08	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	1	0	0	23	265	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	9.999994e-01	23	260	0	50	2								-2.966611	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.800000	0.540000	0.990000	0.830000	0.801501	0.800000	0	6.700000e-01	9.300000e-01
MTHFR	4524	broad.mit.edu	37	1	11860309	11860309	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11860309G>A	ENST00000376592.1	-	3	674	c.546C>T	c.(544-546)atC>atT	p.I182I	MTHFR_ENST00000376585.1_Silent_p.I223I|MTHFR_ENST00000376583.3_Silent_p.I223I|MTHFR_ENST00000376590.3_Silent_p.I182I			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)			33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	ACTCACTTCGGATGTGCTTCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000376592.1	1	1	hg19	CCDS137.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	1	0	1	140	591	0	169	1	9.896522e-01	16	16	0	169	2		0	0	0	0	0	2	1	1	134	580	0	169	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991372	0.990000	1	9.700000e-01	1
MTHFR	4524	broad.mit.edu	37	1	11863151	11863151	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11863151T>C	ENST00000376592.1	-	1	151	c.23A>G	c.(22-24)aAc>aGc	p.N8S	MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S|MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)			33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GAGGCTGCTGTTTCCTCTGGC	0.632000																								0							SO:0001583	missense			ENST00000376592.1	1	1	hg19	CCDS137.1	.	.	.	.	.	.	.	.	.	.	T	2.368	-0.344945	0.05208	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034;ENST00000413656;ENST00000423400;ENST00000431243;ENST00000376486	T;T;T;T;T	0.81163	-1.45;-1.46;-1.45;-1.46;-1.28	4.65	-5.71	0.02413	.	0.791526	0.11932	N	0.515610	T	0.40546	0.1121	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44267	-0.9339	10	0.87932	D	0	.	4.1016	0.10015	0.0988:0.4522:0.2167:0.2323	.	8;49	P42898;Q5SNW6	MTHR_HUMAN;.	S	8;49;8;49;8;8;31;8;8	ENSP00000365777:N8S;ENSP00000365767:N49S;ENSP00000365775:N8S;ENSP00000365770:N49S;ENSP00000405082:N8S	ENSP00000365669:N8S	N	-	2	0	MTHFR	11785738	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.301000	0.08232	-1.019000	0.03358	-1.295000	0.01343	AAC		TCGA-IB-7651-01A-11D-2154-08	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	1	0	1	9	63	0	25	1	9.425897e-01	9	29	0	25	2		0	0	0	0	0	2	1	9.945511e-01	9	61	0	24	2								-16.015950	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.850000	0.520000	1.000000	0.990000	0.834727	0.850000	1	6.900000e-01	9.600000e-01
SPAG17	200162	broad.mit.edu	37	1	118727776	118727776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118727776G>A	ENST00000336338.5	-	1	70	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17			123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)			CTTCTTGGGTGCCATGCAAAG	0.552000																								0							SO:0001583	missense			ENST00000336338.5	1	1	hg19	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626553	0.66901	.	.	ENSG00000155761	ENST00000336338	T	0.20598	2.06	4.88	4.88	0.63580	.	0.398250	0.24698	N	0.036340	T	0.21841	0.0526	N	0.22421	0.69	0.33507	D	0.590619	D	0.89917	1.0	D	0.87578	0.998	T	0.02477	-1.1153	10	0.59425	D	0.04	.	13.7149	0.62691	0.0:0.0:1.0:0.0	.	2	Q6Q759	SPG17_HUMAN	V	2	ENSP00000337804:A2V	ENSP00000337804:A2V	A	-	2	0	SPAG17	118529299	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.482000	0.45224	2.699000	0.92147	0.555000	0.69702	GCA		TCGA-IB-7651-01A-11D-2154-08	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	1	0	1	135	478	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	133	469	0	133	2								-20.000000	1	1	121412	1	32	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992160	0.990000	1	9.700000e-01	1
CLCN6	1185	broad.mit.edu	37	1	11896113	11896113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11896113C>T	ENST00000346436.6	+	18	1935	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6			36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			CTGCGCACCACGGTCCACCAT	0.582000																								0							SO:0001583	missense			ENST00000346436.6	1	1	hg19	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872035	0.91587	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.89196	-2.48;-2.48;-2.48	5.71	5.71	0.89125	Cystathionine beta-synthase, core (3);	0.046638	0.85682	D	0.000000	D	0.91626	0.7354	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.92515	0.6020	10	0.87932	D	0	-21.6503	18.8314	0.92141	0.0:1.0:0.0:0.0	.	606;628	F8W9R3;P51797	.;CLCN6_HUMAN	M	628;606;628	ENSP00000234488:T628M;ENSP00000365670:T606M;ENSP00000365679:T628M	ENSP00000234488:T628M	T	+	2	0	CLCN6	11818700	1.000000	0.71417	0.974000	0.42286	0.943000	0.58893	7.487000	0.81328	2.700000	0.92200	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	1	0	1	6	117	0	39	1	3.826452e-01	6	18	0	39	2		0	0	0	0	0	2	1	9.625221e-01	6	113	0	38	2								-4.316199	1	1	121412	1	24	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.520000	0.220000	0.900000	0.490000	0.542113	0.520000	0	3.500000e-01	7.300000e-01
CLCN6	1185	broad.mit.edu	37	1	11898394	11898394	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898394C>T	ENST00000346436.6	+	21	2350	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376496.3_Silent_p.S766S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6			36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			AATTGCAGAGCGCCAGCCAGC	0.642000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000346436.6	1	1	hg19	CCDS138.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	1	0	1	19	172	0	37	1	6.878884e-01	2	21	0	37	2		0	0	0	0	0	2	1	9.999915e-01	19	168	0	37	2								-20.000000	1	1	121408	1	29	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.870000	0.600000	1.000000	0.990000	0.858611	0.870000	1	7.400000e-01	9.700000e-01
CLCN6	1185	broad.mit.edu	37	1	11898697	11898697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898697G>A	ENST00000346436.6	+	22	2561	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M|CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6			36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			CCACCTGCCCGTGGTGAACGC	0.622000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000346436.6	1	1	hg19	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049858	0.93740	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.98531	-4.98;-4.98;-4.98	5.4	5.4	0.78164	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99890	4.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97391	0.9989	10	0.72032	D	0.01	-31.6049	18.1816	0.89780	0.0:0.0:1.0:0.0	.	815;837	F8W9R3;P51797	.;CLCN6_HUMAN	M	837;815;837	ENSP00000234488:V837M;ENSP00000365670:V815M;ENSP00000365679:V837M	ENSP00000234488:V837M	V	+	1	0	CLCN6	11821284	1.000000	0.71417	0.953000	0.39169	0.894000	0.52154	9.476000	0.97823	2.536000	0.85505	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	1	0	1	50	403	0	91	0	9.219638e-01	1	36	0	91	2		0	0	0	0	0	2	1	1	49	400	0	89	2								-3.221884	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.790000	1.000000	0.990000	0.936994	0.940000	1	8.700000e-01	9.900000e-01
UBE2J2	118424	broad.mit.edu	37	1	1191433	1191433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1191433C>T	ENST00000349431.6	-	6	706	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I|UBE2J2_ENST00000347370.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2			13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			ACCTCCACGACTTCAGGAAAT	0.418000																								0							SO:0001583	missense			ENST00000349431.6	0	1	hg19	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	4.110	0.018605	0.07959	.	.	ENSG00000160087	ENST00000347370;ENST00000349431;ENST00000339385;ENST00000348298;ENST00000400929;ENST00000360466;ENST00000400930;ENST00000435198	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.58	5.58	0.84498	Ubiquitin-conjugating enzyme/RWD-like (2);	0.056483	0.64402	D	0.000001	T	0.29256	0.0728	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.09377	0.0;0.001;0.0;0.004	T	0.12268	-1.0554	10	0.08837	T	0.75	-2.9587	18.5607	0.91098	0.0:1.0:0.0:0.0	.	111;179;163;196	A6NGS0;A8MYC7;Q8N2K1;B1AME9	.;.;UB2J2_HUMAN;.	I	111;163;128;111;111;163;179;163	ENSP00000344857:V111I;ENSP00000305826:V163I;ENSP00000340197:V128I;ENSP00000342541:V111I;ENSP00000383718:V111I;ENSP00000353653:V163I;ENSP00000383719:V179I;ENSP00000393301:V163I	ENSP00000340197:V128I	V	-	1	0	UBE2J2	1181296	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.091000	0.57700	2.638000	0.89438	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	0	0	0	10	585	0	94	1	8.347063e-01	4	190	0	94	2		0	0	0	0	0	2	1	9.964961e-01	9	571	0	93	2								-7.800436	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.180000	0.090000	0.310000	0.180000	0.195089	0.180000	0	1.300000e-01	2.500000e-01
TBX15	6913	broad.mit.edu	37	1	119427768	119427768	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119427768C>T	ENST00000369429.3	-	8	1405	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	TBX15_ENST00000207157.3_Missense_Mutation_p.G360S			Q96SF7	TBX15_HUMAN	T-box 15			37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)			AGCTGGCCACCGTAGGCTTCC	0.567000																								0							SO:0001583	missense			ENST00000369429.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.700	0.497869	0.12762	2.27E-4	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;T	0.86497	-2.13;-2.03;-0.92	5.31	5.31	0.75309	.	0.169902	0.52532	D	0.000061	T	0.33933	0.0880	N	0.00841	-1.15	0.38949	D	0.958302	P;B	0.36412	0.552;0.027	B;B	0.22753	0.041;0.003	T	0.63883	-0.6536	10	0.02654	T	1	.	6.3764	0.21509	0.0:0.7909:0.0:0.2091	.	263;466	E9PCG3;Q96SF7	.;TBX15_HUMAN	S	263;360;466;194	ENSP00000207157:G360S;ENSP00000358437:G466S;ENSP00000398625:G194S	ENSP00000207157:G360S	G	-	1	0	TBX15	119229291	0.337000	0.24766	0.967000	0.41034	0.748000	0.42578	0.911000	0.28584	2.768000	0.95171	0.561000	0.74099	GGT		TCGA-IB-7651-01A-11D-2154-08	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	1	0	0	26	229	0	66	1	2.035652e-01	2	6	0	66	2		0	0	0	0	0	2	1	9.999999e-01	26	228	0	66	2								-2.744770	1	1	121410	1	30	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.890000	0.660000	1.000000	0.990000	0.885790	0.890000	1	7.800000e-01	9.700000e-01
TBX15	6913	broad.mit.edu	37	1	119474288	119474288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119474288G>A	ENST00000369429.3	-	2	382	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TBX15_ENST00000207157.3_Missense_Mutation_p.R19W			Q96SF7	TBX15_HUMAN	T-box 15			37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)			TCATGGAACCGCTTCCAGAGG	0.507000																								0							SO:0001583	missense			ENST00000369429.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.98	3.521076	0.64747	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.88586	-2.4;-2.4	5.97	2.19	0.27852	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.049918	0.85682	D	0.000000	D	0.93706	0.7989	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94414	0.7634	10	0.87932	D	0	.	13.4602	0.61223	0.0:0.0:0.3887:0.6113	.	125	Q96SF7	TBX15_HUMAN	W	19;125	ENSP00000207157:R19W;ENSP00000358437:R125W	ENSP00000207157:R19W	R	-	1	2	TBX15	119275811	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.349000	0.33998	0.492000	0.27815	-0.485000	0.04761	CGG		TCGA-IB-7651-01A-11D-2154-08	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	1	0	1	23	161	0	42	0	1.725030e-02	0	2	0	42	2		0	0	0	0	0	2	1	9.999995e-01	23	157	0	42	2								-11.520810	1	1	121412	11	41	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.920000	0.710000	1.000000	0.990000	0.910320	0.920000	1	8.200000e-01	9.800000e-01
KIAA2013	90231	broad.mit.edu	37	1	11980383	11980383	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11980383G>T	ENST00000376572.3	-	3	2079	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T		NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013			7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)			CAGACACTGGGATCTTCCTGT	0.502000																								0							SO:0001583	missense			ENST00000376572.3	1	1	hg19	CCDS141.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879388	0.33162	.	.	ENSG00000116685	ENST00000376572	.	.	.	5.64	4.72	0.59763	.	.	.	.	.	T	0.35451	0.0932	N	0.08118	0	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.32798	-0.9893	8	0.45353	T	0.12	.	14.0044	0.64453	0.0:0.1512:0.8488:0.0	.	632	Q8IYS2	K2013_HUMAN	T	632	.	ENSP00000365756:P632T	P	-	1	0	KIAA2013	11902970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.176000	0.58269	1.363000	0.46019	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	1	0	1	57	544	0	125	1	1	102	528	0	125	2		0	0	0	0	0	2	1	1	56	528	0	125	2								-16.907910	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.910000	0.740000	1.000000	0.990000	0.911607	0.910000	1	8.300000e-01	9.800000e-01
HAO2	51179	broad.mit.edu	37	1	119929252	119929252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119929252C>T	ENST00000325945.3	+	5	642	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HAO2_ENST00000361035.4_Missense_Mutation_p.A203V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)			30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)			TAGGGAAATGCAATACCTTAT	0.428000																								0							SO:0001583	missense			ENST00000325945.3	1	1	hg19	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031455	0.35797	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.29397	1.57;1.57;1.57	5.13	3.15	0.36227	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.938027	0.08845	N	0.885294	T	0.06962	0.0177	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40175	-0.9577	9	.	.	.	2.527	6.806	0.23779	0.0:0.6969:0.1417:0.1614	.	190	Q9NYQ3	HAOX2_HUMAN	V	165;203;190	ENSP00000393955:A165V;ENSP00000354314:A203V;ENSP00000316339:A190V	.	A	+	2	0	HAO2	119730775	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.505000	0.22642	0.664000	0.31047	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	1	0	1	76	280	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	75	278	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983895	0.980000	1	9.600000e-01	1
HSD3B1	3283	broad.mit.edu	37	1	120056800	120056800	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120056800C>A	ENST00000369413.3	+	4	799	c.654C>A	c.(652-654)ttC>ttA	p.F218L	HSD3B1_ENST00000235547.6_Missense_Mutation_p.F220L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1			32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Trilostane(DB01108)	TTGGAAAGTTCTCCACTGTTA	0.527000																								0							SO:0001583	missense			ENST00000369413.3	1	1	hg19	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	3.556	-0.090709	0.07053	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87650	-2.28;-2.28;-2.28	3.26	0.122	0.14702	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.380111	0.29205	N	0.012833	T	0.70868	0.3273	M	0.75264	2.295	0.09310	N	1	B;P	0.41673	0.257;0.759	B;B	0.40702	0.216;0.338	T	0.63611	-0.6598	10	0.18710	T	0.47	-16.7946	4.638	0.12534	0.0:0.5732:0.1895:0.2373	.	220;218	Q5TDG2;P14060	.;3BHS1_HUMAN	L	218;220;218	ENSP00000358421:F218L;ENSP00000235547:F220L;ENSP00000432268:F218L	ENSP00000235547:F220L	F	+	3	2	HSD3B1	119858323	0.983000	0.35010	0.009000	0.14445	0.271000	0.26615	0.412000	0.21131	0.170000	0.19704	0.313000	0.20887	TTC		TCGA-IB-7651-01A-11D-2154-08	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	1	0	1	110	378	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	110	372	0	91	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.990077	0.980000	1	9.700000e-01	1
HSD3B1	3283	broad.mit.edu	37	1	120057147	120057147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120057147C>T	ENST00000369413.3	+	4	1146	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	HSD3B1_ENST00000235547.6_Missense_Mutation_p.A336V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1			32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Trilostane(DB01108)	TATAAGAAGGCTCAGCGAGAT	0.517000																								0							SO:0001583	missense			ENST00000369413.3	1	1	hg19	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277993	0.59758	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.90955	-2.76;-2.76;-2.76	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.978;0.999	D	0.96505	0.9374	10	0.87932	D	0	-7.6718	12.346	0.55122	0.0:1.0:0.0:0.0	.	336;334	Q5TDG2;P14060	.;3BHS1_HUMAN	V	334;336;334	ENSP00000358421:A334V;ENSP00000235547:A336V;ENSP00000432268:A334V	ENSP00000235547:A336V	A	+	2	0	HSD3B1	119858670	1.000000	0.71417	0.994000	0.49952	0.327000	0.28475	7.157000	0.77461	1.799000	0.52666	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	1	0	1	49	370	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	48	364	0	110	2								-18.626040	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.943687	0.950000	1	8.800000e-01	9.900000e-01
PHGDH	26227	broad.mit.edu	37	1	120277277	120277277	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120277277C>T	ENST00000369409.4	+	6	667	c.531C>T	c.(529-531)atC>atT	p.I177I	PHGDH_ENST00000369407.3_Silent_p.I143I	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase			18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)			ATGACCCCATCATTTCCCCAG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000369409.4	1	1	hg19	CCDS904.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	0	0	0	124	1139	0	267	1	9.941473e-01	3	69	0	267	2		0	0	0	0	0	2	1	1	119	1123	0	266	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.950000	0.840000	1.000000	0.990000	0.951243	0.950000	1	9.000000e-01	9.900000e-01
PHGDH	26227	broad.mit.edu	37	1	120284428	120284428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120284428G>A	ENST00000369409.4	+	10	1253	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	PHGDH_ENST00000369407.3_Missense_Mutation_p.A339T|PHGDH_ENST00000482968.1_3'UTR	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase			18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)			CCTAAGCCCCGCAGTCATTGT	0.567000																								0							SO:0001583	missense			ENST00000369409.4	1	1	hg19	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.843250	0.51057	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.87103	-2.21;-2.21	5.39	4.48	0.54585	.	0.105284	0.64402	D	0.000005	D	0.86703	0.5996	M	0.68952	2.095	0.30683	N	0.752119	D;D;D;D	0.64830	0.982;0.982;0.994;0.99	P;P;P;P	0.57548	0.678;0.678;0.823;0.678	D	0.84014	0.0350	10	0.54805	T	0.06	-8.5858	11.8603	0.52461	0.0855:0.0:0.9145:0.0	.	339;339;246;373	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	T	373;246;339	ENSP00000358417:A373T;ENSP00000358415:A339T	ENSP00000358415:A339T	A	+	1	0	PHGDH	120085951	1.000000	0.71417	0.014000	0.15608	0.203000	0.24098	5.700000	0.68318	1.278000	0.44430	-0.136000	0.14681	GCA		TCGA-IB-7651-01A-11D-2154-08	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	1	0	1	40	315	0	101	1	9.970133e-01	3	69	0	101	2		0	0	0	0	0	2	1	1	39	312	0	101	2								-3.142705	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.930000	0.760000	1.000000	0.990000	0.929037	0.930000	1	8.600000e-01	9.900000e-01
HMGCS2	3158	broad.mit.edu	37	1	120295298	120295298	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120295298C>T	ENST00000369406.3	-	8	1344		c.e8-1		HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Splice_Site	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)			28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)			AGGGGAGAGCCTGGGAAGCAA	0.478000																								0							SO:0001630	splice_region_variant			ENST00000369406.3	1	1	hg19	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047514	0.55110	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	.	.	.	5.43	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2131	0.59836	0.0:0.9223:0.0:0.0777	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCS2	120096821	1.000000	0.71417	0.997000	0.53966	0.712000	0.41017	5.072000	0.64389	1.416000	0.47057	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	1	0	1	75	355	1	81		0	0	0	1	81	2		0	0	0	0	0	2	1	1	72	343	1	81	17								-20.000000	1	0	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980057	0.980000	1	9.500000e-01	1
PLOD1	5351	broad.mit.edu	37	1	12032953	12032953	+	Missense_Mutation	SNP	G	G	A	rs149425237	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12032953G>A	ENST00000196061.4	+	18	1954	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1			29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCTTTGTCGTCCGCTACAA	0.577000																								0							SO:0001583	missense			ENST00000196061.4	1	1	hg19	CCDS142.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.292109	0.95546	6.81E-4	0.001163	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.76448	-1.02;-1.02	5.39	5.39	0.77823	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.91341	0.5097	10	0.87932	D	0	.	18.2058	0.89854	0.0:0.0:1.0:0.0	.	690;643	B4DR87;Q02809	.;PLOD1_HUMAN	I	307;690;643	ENSP00000365548:V690I;ENSP00000196061:V643I	ENSP00000196061:V643I	V	+	1	0	PLOD1	11955540	1.000000	0.71417	0.948000	0.38648	0.973000	0.67179	9.854000	0.99522	2.552000	0.86080	0.549000	0.68633	GTC		TCGA-IB-7651-01A-11D-2154-08	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	1	0	0	38	354	0	111	1	1	159	811	0	111	2		0	0	0	0	0	2	1	1	38	343	0	111	2								-10.468590	1	1	121412	77	52	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.900000	0.700000	1.000000	0.990000	0.896868	0.900000	1	8.100000e-01	9.800000e-01
UBE2J2	118424	broad.mit.edu	37	1	1203315	1203315	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1203315C>A	ENST00000349431.6	-	2	277	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y|UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000339385.6_5'Flank	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2			13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CGAAGGTAGTCCTGCTTCAGC	0.572000																								0							SO:0001583	missense			ENST00000349431.6	0	1	hg19	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474331	0.84640	.	.	ENSG00000160087	ENST00000349431;ENST00000360466;ENST00000400930;ENST00000435198;ENST00000422076;ENST00000502382;ENST00000488418	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.42	4.51	0.55191	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042455	0.85682	D	0.000000	T	0.73102	0.3544	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.79512	-0.1773	10	0.87932	D	0	.	13.2767	0.60191	0.0:0.9224:0.0:0.0776	.	20;20	A8MYC7;Q8N2K1	.;UB2J2_HUMAN	Y	20	ENSP00000305826:D20Y;ENSP00000353653:D20Y;ENSP00000383719:D20Y;ENSP00000393301:D20Y;ENSP00000401898:D20Y;ENSP00000424342:D20Y	ENSP00000305826:D20Y	D	-	1	0	UBE2J2	1193178	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.022000	0.76431	1.428000	0.47296	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1	0	0	0	31	1813	0	317	1	6.258827e-01	2	122	0	317	2		0	0	0	0	0	2	1	1	32	1782	0	316	2								-2.920950	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.170000	0.120000	0.250000	0.180000	0.185610	0.170000	0	1.400000e-01	2.200000e-01
ADAM30	11085	broad.mit.edu	37	1	120438762	120438762	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120438762C>T	ENST00000369400.1	-	1	356	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30			38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)			CTTTTAACTGCAGTAGGTAGG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000369400.1	1	1	hg19	CCDS907.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	1	0	1	87	263	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	86	259	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.987755	0.980000	1	9.600000e-01	1
NOTCH2	4853	broad.mit.edu	37	1	120458178	120458178	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120458178C>T	ENST00000256646.2	-	34	7386	c.7167G>A	c.(7165-7167)caG>caA	p.Q2389Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2			158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)			CATAACTGTGCTGTGAAGGGG	0.582000			N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome						Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0							SO:0001819	synonymous_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	ENST00000256646.2	1	1	hg19	CCDS908.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	1	0	1	57	397	0	94	1	1	16	245	0	94	2		0	0	0	0	0	2	1	1	55	389	0	93	2								-19.998310	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.957001	0.960000	1	9.100000e-01	9.900000e-01
NOTCH2	4853	broad.mit.edu	37	1	120459014	120459014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120459014T>C	ENST00000256646.2	-	34	6550	c.6331A>G	c.(6331-6333)Acc>Gcc	p.T2111A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2			158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)			GTAGGCATGGTACTCTTGGCA	0.537000			N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome						Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0							SO:0001583	missense	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	ENST00000256646.2	1	1	hg19	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	1.298	-0.605717	0.03717	.	.	ENSG00000134250	ENST00000256646	D	0.81499	-1.5	5.71	-3.15	0.05233	.	0.615279	0.13441	N	0.387715	T	0.22399	0.0540	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	10	0.08179	T	0.78	.	13.4241	0.61015	0.0:0.4741:0.0:0.5259	.	2111	Q04721	NOTC2_HUMAN	A	2111	ENSP00000256646:T2111A	ENSP00000256646:T2111A	T	-	1	0	NOTCH2	120260537	0.000000	0.05858	0.134000	0.22075	0.927000	0.56198	-0.652000	0.05366	-0.590000	0.05866	0.459000	0.35465	ACC		TCGA-IB-7651-01A-11D-2154-08	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	0	0	0	10	334	0	64	1	9.547054e-01	2	176	0	64	2		0	0	0	0	0	2	1	9.968974e-01	10	332	0	64	2								-10.649600	1	1	121412	1	39	1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.310000	0.160000	0.530000	0.300000	0.332540	0.310000	0	2.300000e-01	4.300000e-01
NOTCH2	4853	broad.mit.edu	37	1	120466323	120466323	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120466323G>T	ENST00000256646.2	-	26	5015	c.4796C>A	c.(4795-4797)gCt>gAt	p.A1599D	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2			158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)			TTTCTTCATAGCAGCTGACTT	0.517000			N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome						Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0							SO:0001583	missense	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	ENST00000256646.2	1	1	hg19	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807633	0.16467	.	.	ENSG00000134250	ENST00000256646	D	0.81821	-1.54	6.08	5.17	0.71159	.	0.201896	0.24298	U	0.039751	T	0.57858	0.2082	L	0.55481	1.735	0.38961	D	0.958543	P	0.43477	0.808	B	0.33690	0.168	T	0.61282	-0.7094	10	0.13853	T	0.58	.	12.4833	0.55856	0.0772:0.0:0.9228:0.0	.	1599	Q04721	NOTC2_HUMAN	D	1599	ENSP00000256646:A1599D	ENSP00000256646:A1599D	A	-	2	0	NOTCH2	120267846	0.980000	0.34600	0.774000	0.31636	0.969000	0.65631	3.271000	0.51608	1.597000	0.50072	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	1	0	1	41	373	0	79	0	9.998241e-01	1	118	0	79	2		0	0	0	0	0	2	1	1	41	370	0	78	2								-13.762600	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.906331	0.910000	1	8.200000e-01	9.800000e-01
NOTCH2	4853	broad.mit.edu	37	1	120483361	120483361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120483361G>A	ENST00000256646.2	-	19	3219	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2			158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)			CAACACATGTGCCACCATTGA	0.443000			N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome						Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0							SO:0001819	synonymous_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	ENST00000256646.2	1	1	hg19	CCDS908.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	1	0	1	46	156	0	71	1	9.999999e-01	10	80	0	71	2		0	0	0	0	0	2	1	1	46	156	0	71	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.973385	0.970000	1	9.400000e-01	1
NOTCH2	4853	broad.mit.edu	37	1	120506274	120506274	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120506274C>A	ENST00000256646.2	-	11	2057	c.1838G>T	c.(1837-1839)aGc>aTc	p.S613I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2			158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)			GCAAGGGCTGCTGTAACATTC	0.527000			N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome						Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0							SO:0001583	missense	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	ENST00000256646.2	1	1	hg19	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779348	0.90195	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	T	0.09630	2.96	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45126	U	0.000381	T	0.37679	0.1012	M	0.90977	3.165	0.80722	D	1	P;P;D	0.89917	0.786;0.927;1.0	P;P;D	0.91635	0.595;0.739;0.999	T	0.40701	-0.9549	10	0.62326	D	0.03	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	574;613;613	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	I	613;574	ENSP00000256646:S613I	ENSP00000256646:S613I	S	-	2	0	NOTCH2	120307797	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.729000	0.84864	2.861000	0.98227	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	1	0	1	93	854	0	228	1	9.957181e-01	7	69	0	228	2		0	0	0	0	0	2	1	1	93	847	0	226	2								-20.000000	1	1	0	0		1	0	1	1	1.802888	1	0.170000	2.060000	9.289617e-02	0.940000	0.810000	1.000000	0.990000	0.941340	0.940000	1	8.800000e-01	9.900000e-01
MFN2	9927	broad.mit.edu	37	1	12052696	12052696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12052696G>A	ENST00000235329.5	+	4	582	c.260G>A	c.(259-261)gGc>gAc	p.G87D	MFN2_ENST00000497302.1_3'UTR|MFN2_ENST00000444836.1_Missense_Mutation_p.G87D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2			20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			AAAGTGAGAGGCATCAGTGAG	0.532000																								0							SO:0001583	missense			ENST00000235329.5	1	1	hg19	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788652	0.90367	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.95482	-3.53;-3.53;-3.72	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.73217	2.22	0.80722	D	1	D	0.54772	0.968	P	0.52267	0.694	D	0.94998	0.8140	10	0.29301	T	0.29	-28.61	18.3893	0.90477	0.0:0.0:1.0:0.0	.	87	O95140	MFN2_HUMAN	D	87	ENSP00000416338:G87D;ENSP00000235329:G87D;ENSP00000412023:G87D	ENSP00000235329:G87D	G	+	2	0	MFN2	11975283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.335000	0.72949	2.588000	0.87417	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	1	0	1	187	842	0	288	1	1	73	104	0	288	2		0	0	0	0	0	2	1	1	184	823	0	280	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.993630	0.990000	1	9.800000e-01	1
FCGR1B	2210	broad.mit.edu	37	1	120930255	120930255	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120930255C>T	ENST00000369384.4	-	4	388	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|FCGR1B_ENST00000472543.1_5'UTR	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)			4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Intravenous Immunoglobulin(DB00028)	GGTTCTCCTTCCATGAAGACT	0.463000																								0							SO:0001583	missense			ENST00000369384.4	1	1	hg19	CCDS30821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.766223|1.766223	0.31228|0.31228	.|.	.|.	ENSG00000198019|ENSG00000198019	ENST00000369384;ENST00000369383|ENST00000369178	T;T|.	0.14766|.	2.48;2.48|.	2.16|2.16	2.16|2.16	0.27623|0.27623	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.52532|.	D|.	0.000080|.	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.86343|0.86343	2.81|2.81	0.28108|0.28108	N|N	0.931133|0.931133	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.97;0.999|.	T|T	0.40079|0.40079	-0.9582|-0.9582	10|5	0.87932|.	D|.	0|.	.|.	7.9331|7.9331	0.29914|0.29914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	116;116;24;116|.	P12314-2;Q92637-2;Q92637-3;Q92637|.	.;.;.;FCGRB_HUMAN|.	K|E	116;24|100	ENSP00000358391:E116K;ENSP00000358390:E24K|.	ENSP00000358390:E24K|.	E|G	-|-	1|2	0|0	FCGR1B|FCGR1B	120731778|120731778	0.970000|0.970000	0.33590|0.33590	0.630000|0.630000	0.29268|0.29268	0.109000|0.109000	0.19521|0.19521	2.941000|2.941000	0.49011|0.49011	1.543000|1.543000	0.49345|0.49345	0.184000|0.184000	0.17185|0.17185	GAA|GGA		TCGA-IB-7651-01A-11D-2154-08	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1	1	0	1	124	525	0	164	0	9.741250e-01	0	27	0	164	2		0	0	0	0	0	2	1	1	123	506	0	166	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFRSF8	943	broad.mit.edu	37	1	12186098	12186098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12186098G>A	ENST00000263932.2	+	11	1466	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R304Q|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8			27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		Brentuximab vedotin(DB08870)	TGCAGGAAGCGAATTCGGCAG	0.627000																								0							SO:0001583	missense			ENST00000263932.2	0	1	hg19	CCDS144.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470834	0.26423	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.09255	3.0;3.0	4.33	2.45	0.29901	.	55.233600	0.00166	N	0.000000	T	0.12050	0.0293	L	0.50333	1.59	0.24342	N	0.994955	B;B	0.29508	0.013;0.246	B;B	0.12837	0.002;0.008	T	0.26608	-1.0098	10	0.38643	T	0.18	-7.3849	6.8545	0.24032	0.2129:0.0:0.7871:0.0	.	304;415	D3YTD8;P28908	.;TNR8_HUMAN	Q	415;304	ENSP00000263932:R415Q;ENSP00000390650:R304Q	ENSP00000263932:R415Q	R	+	2	0	TNFRSF8	12108685	0.997000	0.39634	0.289000	0.24876	0.896000	0.52359	1.760000	0.38430	0.590000	0.29694	-0.150000	0.13652	CGA		TCGA-IB-7651-01A-11D-2154-08	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1	0	0	0	9	543	0	112	0	0	0	1	0	112	2		0	0	0	0	0	2	1	9.936819e-01	10	530	0	109	2								-3.077604	1	1	121412	18	44	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.170000	0.080000	0.310000	0.170000	0.190872	0.170000	0	1.200000e-01	2.500000e-01
SCNN1D	6339	broad.mit.edu	37	1	1222152	1222152	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1222152A>G	ENST00000338555.2	+	5	1568	c.424A>G	c.(424-426)Agt>Ggt	p.S142G	SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit			7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Amiloride(DB00594)|Triamterene(DB00384)	TCCCAGGCCGAGTCCGGTCCT	0.657000																								0							SO:0001583	missense			ENST00000338555.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.32	1.604653	0.28623	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	3.55	-3.62	0.04543	.	4.620690	0.00508	N	0.000170	T	0.62344	0.2420	M	0.67700	2.07	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.18263	0.021;0.001	T	0.49753	-0.8906	10	0.62326	D	0.03	.	4.761	0.13108	0.3933:0.2998:0.3069:0.0	.	142;306	P51172;A6NNF7	SCNND_HUMAN;.	G	173;306;142;208;142	ENSP00000368411:S306G;ENSP00000339504:S142G;ENSP00000321594:S208G;ENSP00000383717:S142G	ENSP00000321594:S208G	S	+	1	0	SCNN1D	1212015	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.332000	0.07904	-0.461000	0.06993	0.260000	0.18958	AGT		TCGA-IB-7651-01A-11D-2154-08	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	1	0	1	39	173	0	40	1	1.625399e-01	2	2	0	40	2		0	0	0	0	0	2	1	1	38	171	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.962840	0.960000	1	9.200000e-01	1
TNFRSF1B	7133	broad.mit.edu	37	1	12251090	12251090	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12251090G>T	ENST00000376259.3	+	3	344	c.255G>T	c.(253-255)caG>caT	p.Q85H	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B			10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		Etanercept(DB00005)	CATACACCCAGCTCTGGAACT	0.567000																								0							SO:0001583	missense			ENST00000376259.3	1	1	hg19	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074733	0.36566	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.90788	-2.73;-2.73	4.1	4.1	0.47936	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.459943	0.22611	N	0.057824	D	0.88588	0.6477	L	0.47716	1.5	0.09310	N	0.999991	D	0.57571	0.98	P	0.47346	0.544	T	0.82744	-0.0306	10	0.54805	T	0.06	-3.5724	12.0529	0.53518	0.0:0.0:1.0:0.0	.	85	P20333	TNR1B_HUMAN	H	85	ENSP00000365435:Q85H;ENSP00000440425:Q85H	ENSP00000365435:Q85H	Q	+	3	2	TNFRSF1B	12173677	0.713000	0.27926	0.452000	0.26994	0.212000	0.24457	1.180000	0.32005	2.312000	0.78011	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	1	0	0	76	786	0	191	0	9.944176e-01	0	82	0	191	2		0	0	0	0	0	2	1	1	74	779	1	191	16								-18.910040	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.900000	0.730000	1.000000	0.940000	0.898153	0.900000	1	8.200000e-01	9.700000e-01
TNFRSF1B	7133	broad.mit.edu	37	1	12252968	12252968	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12252968C>T	ENST00000376259.3	+	6	689	c.600C>T	c.(598-600)tgC>tgT	p.C200C	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B			10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		Etanercept(DB00005)	ATGCAGTCTGCACGTCCACGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000376259.3	1	1	hg19	CCDS145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	0	0	0	12	171	0	41	1	9.992908e-01	2	184	0	41	2		0	0	0	0	0	2	1	9.990706e-01	12	166	0	41	2								-3.223604	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.670000	0.380000	0.960000	0.670000	0.685097	0.670000	0	5.100000e-01	8.500000e-01
SCNN1D	6339	broad.mit.edu	37	1	1225717	1225717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1225717C>T	ENST00000338555.2	+	10	2381	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S|SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit			7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Amiloride(DB00594)|Triamterene(DB00384)	CTACCTCCACCCTCTGCCGGC	0.667000																								0							SO:0001583	missense			ENST00000338555.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.14|14.14	2.447329|2.447329	0.43429|0.43429	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379099|ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	.|T;T;T;T	.|0.72942	.|-0.65;-0.7;-0.69;-0.7	3.13|3.13	2.09|2.09	0.27110|0.27110	.|.	0.484380|0.484380	0.16350|0.16350	U|U	0.218259|0.218259	D|D	0.83862|0.83862	0.5346|0.5346	M|M	0.87381|0.87381	2.88|2.88	0.28260|0.28260	N|N	0.92488|0.92488	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.976	T|T	0.75485|0.75485	-0.3301|-0.3301	6|10	.|0.87932	.|D	.|0	.|.	10.4602|10.4602	0.44575|0.44575	0.0:0.8003:0.1997:0.0|0.0:0.8003:0.1997:0.0	.|.	.|235;413;577	.|B1AMF2;P51172;A6NNF7	.|.;SCNND_HUMAN;.	L|S	229|444;577;413;479;413	.|ENSP00000368411:P577S;ENSP00000339504:P413S;ENSP00000321594:P479S;ENSP00000383717:P413S	.|ENSP00000321594:P479S	P|P	+|+	2|1	0|0	SCNN1D|SCNN1D	1215580|1215580	0.990000|0.990000	0.36364|0.36364	0.093000|0.093000	0.20910|0.20910	0.012000|0.012000	0.07955|0.07955	2.636000|2.636000	0.46545|0.46545	1.302000|1.302000	0.44855|0.44855	0.306000|0.306000	0.20318|0.20318	CCC|CCT		TCGA-IB-7651-01A-11D-2154-08	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	1	0	1	33	282	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1	31	274	0	55	2								-3.318795	1	1	120452	3	33	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.910000	0.710000	1.000000	0.990000	0.906128	0.910000	1	8.200000e-01	9.800000e-01
SCNN1D	6339	broad.mit.edu	37	1	1226291	1226291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1226291C>T	ENST00000338555.2	+	13	2586	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M|SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit			7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Amiloride(DB00594)|Triamterene(DB00384)	ACTCTGGCCACGCTAGGTGAA	0.672000																								0							SO:0001583	missense			ENST00000338555.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056654	0.01965	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69306	-0.39;-0.36;-0.37;-0.36	3.0	-1.54	0.08584	.	6.272650	0.00772	U	0.001219	T	0.32556	0.0833	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.28998	0.093;0.023;0.23	B;B;B	0.23018	0.043;0.031;0.005	T	0.26360	-1.0105	10	0.11182	T	0.66	.	2.3034	0.04168	0.2442:0.366:0.0:0.3898	.	303;481;645	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	M	512;645;481;547;481	ENSP00000368411:T645M;ENSP00000339504:T481M;ENSP00000321594:T547M;ENSP00000383717:T481M	ENSP00000321594:T547M	T	+	2	0	SCNN1D	1216154	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.041000	0.12084	-0.035000	0.13691	0.306000	0.20318	ACG		TCGA-IB-7651-01A-11D-2154-08	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	1	0	1	14	62	0	20	1	4.675518e-01	3	5	0	20	2		0	0	0	0	0	2	1	9.998207e-01	14	60	0	20	2								-20.000000	1	1	120044	4	29	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.680000	1.000000	0.990000	0.907763	0.920000	1	8.200000e-01	9.800000e-01
TNFRSF1B	7133	broad.mit.edu	37	1	12266843	12266843	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12266843C>T	ENST00000376259.3	+	10	1241	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B			10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		Etanercept(DB00005)	TCACCTGCATCGTGAACGTCT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000376259.3	1	1	hg19	CCDS145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	1	0	1	77	309	0	92	0	9.999999e-01	1	98	0	92	2		0	0	0	0	0	2	1	1	76	300	0	91	2								-3.531816	1	1	121410	2	35	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983152	0.980000	1	9.600000e-01	1
VPS13D	55187	broad.mit.edu	37	1	12309338	12309338	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12309338C>A	ENST00000358136.3	+	6	636	c.506C>A	c.(505-507)cCt>cAt	p.P169H	VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			CCCTCCCATCCTTTTGCTTTT	0.413000																								0							SO:0001583	missense			ENST00000358136.3	1	1	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292486	0.59976	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.60548	0.18;0.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.956	T	0.74034	-0.3794	10	0.62326	D	0.03	.	18.3927	0.90489	0.0:1.0:0.0:0.0	.	169;169	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	H	169	ENSP00000348666:P169H;ENSP00000350854:P169H	ENSP00000348666:P169H	P	+	2	0	VPS13D	12231925	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.227000	0.65305	2.573000	0.86826	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	0	17	213	0	45	1	2.389504e-01	2	10	0	45	2		0	0	0	0	0	2	1	9.999674e-01	17	210	0	45	2								-19.984080	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.750000	0.470000	0.980000	0.770000	0.753262	0.750000	0	6.000000e-01	9.000000e-01
VPS13D	55187	broad.mit.edu	37	1	12368618	12368618	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368618C>A	ENST00000358136.3	+	27	6700	c.6570C>A	c.(6568-6570)tcC>tcA	p.S2190S	VPS13D_ENST00000356315.4_Silent_p.S2190S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			TCTTCCCTTCCTATTTTGTGC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000358136.3	1	1	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909829	0.17833	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.61	4.66	0.58398	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56836	-0.7913	4	.	.	.	.	8.5528	0.33462	0.1482:0.771:0.0:0.0809	.	.	.	.	H	1013	.	.	P	+	2	0	VPS13D	12291205	0.999000	0.42202	1.000000	0.80357	0.888000	0.51559	0.658000	0.24979	1.274000	0.44362	-0.355000	0.07637	CCT		TCGA-IB-7651-01A-11D-2154-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1	85	641	0	169	1	9.627066e-01	3	39	0	169	2		0	0	0	0	0	2	1	1	82	616	0	169	2								-2.920853	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.960000	0.860000	1.000000	0.990000	0.964701	0.960000	1	9.200000e-01	1
VPS13D	55187	broad.mit.edu	37	1	12368655	12368655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368655G>A	ENST00000358136.3	+	27	6737	c.6607G>A	c.(6607-6609)Gag>Aag	p.E2203K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			CCTCTTAACCGAGCCTTGTAG	0.468000																								0							SO:0001583	missense			ENST00000358136.3	1	1	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566759	0.96540	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	.	0.052127	0.85682	D	0.000000	T	0.64271	0.2583	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.913	T	0.56962	-0.7892	10	0.27082	T	0.32	.	19.6382	0.95746	0.0:0.0:1.0:0.0	.	2203;2203	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2203	ENSP00000348666:E2203K;ENSP00000350854:E2203K	ENSP00000348666:E2203K	E	+	1	0	VPS13D	12291242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.636000	0.89361	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1	65	558	0	133	1	8.590221e-01	5	27	0	133	2		0	0	0	0	0	2	1	1	62	529	0	133	2								-3.075755	1	0	121412	1	38	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.800000	1.000000	0.990000	0.939531	0.940000	1	8.800000e-01	9.900000e-01
VPS13D	55187	broad.mit.edu	37	1	12371629	12371629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12371629G>A	ENST00000358136.3	+	28	6899	c.6769G>A	c.(6769-6771)Gaa>Aaa	p.E2257K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			CAACCTGGGAGAACCCATAGA	0.438000																								0							SO:0001583	missense			ENST00000358136.3	1	1	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672011	0.96754	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.72852	-0.4167	10	0.72032	D	0.01	.	19.7435	0.96241	0.0:0.0:1.0:0.0	.	2257;2257	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	2257	ENSP00000348666:E2257K;ENSP00000350854:E2257K	ENSP00000348666:E2257K	E	+	1	0	VPS13D	12294216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.659000	0.90383	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1	68	662	0	163	1	9.226442e-01	7	37	0	163	2		0	0	0	0	0	2	1	1	65	653	0	163	2								-18.380630	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.750000	1.000000	0.990000	0.914040	0.920000	1	8.400000e-01	9.800000e-01
VPS13D	55187	broad.mit.edu	37	1	12374263	12374263	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12374263G>A	ENST00000358136.3	+	30	7157	c.7027G>A	c.(7027-7029)Gac>Aac	p.D2343N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			GATGGCTTTTGACACCCGTTA	0.458000																								0							SO:0001583	missense			ENST00000358136.3	1	1	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356181	0.95854	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44881	0.91;0.91	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.71034	-0.4709	10	0.66056	D	0.02	.	19.2035	0.93720	0.0:0.0:1.0:0.0	.	250;2343;2343	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	N	2343	ENSP00000348666:D2343N;ENSP00000350854:D2343N	ENSP00000348666:D2343N	D	+	1	0	VPS13D	12296850	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.476000	0.97823	2.527000	0.85204	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1	23	206	0	39	1	8.913820e-01	3	34	0	39	2		0	0	0	0	0	2	1	9.999994e-01	22	203	0	39	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.880000	0.640000	1.000000	0.990000	0.874298	0.880000	1	7.600000e-01	9.700000e-01
VPS13D	55187	broad.mit.edu	37	1	12395787	12395787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12395787G>A	ENST00000358136.3	+	39	8584	c.8454G>A	c.(8452-8454)tcG>tcA	p.S2818S	VPS13D_ENST00000356315.4_Silent_p.S2818S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			CCAAGGAATCGTGGATGGCAG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000358136.3	1	1	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.532045	0.13127	0.0	1.16E-4	ENSG00000048707	ENST00000011700	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63005	-0.6733	4	.	.	.	.	9.2345	0.37457	0.5866:0.251:0.1053:0.057	.	.	.	.	H	1641	.	.	R	+	2	0	VPS13D	12318374	0.000000	0.05858	0.026000	0.17262	0.978000	0.69477	-1.834000	0.01693	-3.631000	0.00129	-0.710000	0.03640	CGT		TCGA-IB-7651-01A-11D-2154-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1	45	402	0	89	1	8.441497e-01	9	23	0	89	2		0	0	0	0	0	2	1	1	45	398	0	88	2								-15.134680	1	1	121412	1	33	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.740000	1.000000	0.990000	0.915014	0.920000	1	8.400000e-01	9.800000e-01
VPS13D	55187	broad.mit.edu	37	1	12416088	12416088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12416088G>A	ENST00000358136.3	+	48	9942	c.9812G>A	c.(9811-9813)cGa>cAa	p.R3271Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)			130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			ATTGTGTGTCGAGCAGAAGGA	0.468000																								0							SO:0001583	missense			ENST00000358136.3	1	1	hg19	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.150367|5.150367	0.94645|0.94645	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53857	.|0.6;0.6	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53174|0.53174	0.1780|0.1780	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.993	.|P;P	.|0.49887	.|0.625;0.526	T|T	0.37820|0.37820	-0.9689|-0.9689	5|10	.|0.17369	.|T	.|0.5	.|.	20.2617|20.2617	0.98447|0.98447	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3246;3270	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	K|Q	2093|3246;3271	.|ENSP00000348666:R3246Q;ENSP00000350854:R3271Q	.|ENSP00000348666:R3246Q	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12338675|12338675	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.604000|7.604000	0.82830|0.82830	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAG|CGA		TCGA-IB-7651-01A-11D-2154-08	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	1	0	1	75	274	0	82	1	9.999420e-01	16	39	0	82	2		0	0	0	0	0	2	1	1	74	270	0	82	2								-3.305146	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983740	0.980000	1	9.600000e-01	1
CPSF3L	54973	broad.mit.edu	37	1	1255909	1255909	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1255909G>A	ENST00000435064.1	-	3	209	c.127C>T	c.(127-129)Cga>Tga	p.R43*	CPSF3L_ENST00000540437.1_Splice_Site_p.R49*|CPSF3L_ENST00000450926.2_Splice_Site_p.R43*|CPSF3L_ENST00000545578.1_Splice_Site_p.R14*|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000419704.1_Intron|RP5-890O3.9_ENST00000444968.1_RNA	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like			13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			GGGAAGCGTCGCTAGGAAGGA	0.607000																								0							SO:0001630	splice_region_variant			ENST00000435064.1	0	0	hg19	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.526940	0.44969	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	.	.	.	4.73	0.793	0.18632	.	0.048715	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-53.2948	13.2437	0.60012	0.0:0.0:0.5864:0.4136	.	.	.	.	X	43;55;49;43;14;43;49;90;44;103	.	ENSP00000294579:R55X	R	-	1	2	CPSF3L	1245772	1.000000	0.71417	0.930000	0.37139	0.223000	0.24884	1.562000	0.36353	-0.130000	0.11599	-0.269000	0.10298	CGA		TCGA-IB-7651-01A-11D-2154-08	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	1	0	1	120	417	0	129	1	1	26	106	0	129	2		0	0	0	0	0	2	1	1	118	407	0	127	2								-20.000000	1	1	121408	1	33	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991025	0.990000	1	9.700000e-01	1
DHRS3	9249	broad.mit.edu	37	1	12638749	12638749	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12638749A>C	ENST00000376223.2	-	4	1078	c.695T>G	c.(694-696)gTc>gGc	p.V232G	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3			9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		Vitamin A(DB00162)	CACTGACCTGACTCTCATGCC	0.582000																								0							SO:0001583	missense			ENST00000376223.2	1	1	hg19	CCDS146.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630471	0.67015	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;T	0.89196	-2.48;-1.4	5.53	5.53	0.82687	NAD(P)-binding domain (1);	0.165909	0.52532	D	0.000074	D	0.85691	0.5755	L	0.47716	1.5	0.80722	D	1	B	0.27559	0.181	B	0.20767	0.031	D	0.84054	0.0371	10	0.62326	D	0.03	.	15.6559	0.77133	1.0:0.0:0.0:0.0	.	232	O75911	DHRS3_HUMAN	G	232;147	ENSP00000365397:V232G;ENSP00000387903:V147G	ENSP00000365397:V232G	V	-	2	0	DHRS3	12561336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.952000	0.93031	2.091000	0.63221	0.482000	0.46254	GTC		TCGA-IB-7651-01A-11D-2154-08	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	1	0	1	22	260	0	62	1	1	54	412	0	62	2		0	0	0	0	0	2	1	9.999986e-01	21	254	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.790000	0.530000	0.980000	0.810000	0.789338	0.790000	0	6.500000e-01	9.200000e-01
TAS1R3	83756	broad.mit.edu	37	1	1269749	1269749	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1269749G>T	ENST00000339381.5	+	6	2496	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3			12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			GCGGCAGCCAGGGCTCAACAC	0.642000																								0							SO:0001583	missense			ENST00000339381.5	1	1	hg19	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087578	0.20390	.	.	ENSG00000169962	ENST00000339381	D	0.88896	-2.44	4.59	-2.82	0.05787	GPCR, family 3, C-terminal (1);	1.629200	0.03282	N	0.186320	D	0.83041	0.5168	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.52424	0.698	T	0.73975	-0.3813	10	0.72032	D	0.01	.	7.2296	0.26034	0.2315:0.2324:0.5361:0.0	.	822	Q7RTX0	TS1R3_HUMAN	W	822	ENSP00000344411:G822W	ENSP00000344411:G822W	G	+	1	0	TAS1R3	1259612	0.026000	0.19158	0.000000	0.03702	0.057000	0.15508	0.984000	0.29565	-0.314000	0.08716	0.456000	0.33151	GGG		TCGA-IB-7651-01A-11D-2154-08	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1	1	0	1	16	91	0	20	0	3.008287e-01	0	7	0	20	2		0	0	0	0	0	2	1	9.999574e-01	16	91	0	20	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.680000	1.000000	0.990000	0.903054	0.920000	1	8.100000e-01	9.800000e-01
DVL1	1855	broad.mit.edu	37	1	1271741	1271741	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271741C>A	ENST00000378888.5	-	15	2153	c.1869G>T	c.(1867-1869)caG>caT	p.Q623H	DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1			13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CACGGCTGAGCTGGCCGGCCG	0.741000																								0							SO:0001583	missense			ENST00000378888.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.40	1.627896	0.28978	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.5	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	L	0.47190	1.495	0.43114	D	0.994829	D;D;D	0.67145	0.995;0.996;0.994	D;D;D	0.81914	0.989;0.995;0.991	T	0.00473	-1.1718	10	0.48119	T	0.1	.	18.2311	0.89934	0.0:1.0:0.0:0.0	.	281;623;598	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	H	598;623;372;281	ENSP00000368169:Q598H;ENSP00000368166:Q623H	ENSP00000263743:Q281H	Q	-	3	2	DVL1	1261604	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	1.953000	0.40352	2.607000	0.88179	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	1	0	0	23	101	0	17	1	5.861461e-01	4	6	0	17	2		0	0	0	0	0	2	1	9.999995e-01	22	97	0	17	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.780000	1.000000	0.990000	0.939563	0.950000	1	8.800000e-01	9.900000e-01
DVL1	1855	broad.mit.edu	37	1	1271751	1271751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271751G>A	ENST00000378888.5	-	15	2143	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	DVL1_ENST00000378891.5_Missense_Mutation_p.P595L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1			13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CTGGCCGGCCGGACGCTCTCG	0.731000																								0							SO:0001583	missense			ENST00000378888.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.78	2.338007	0.41398	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.48	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.187522	0.47852	D	0.000217	T	0.27384	0.0672	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.977	D;P;P	0.83275	0.996;0.765;0.654	T	0.01345	-1.1379	10	0.56958	D	0.05	.	18.2311	0.89934	0.0:0.0:1.0:0.0	.	278;620;595	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	L	595;620;369;278	ENSP00000368169:P595L;ENSP00000368166:P620L	ENSP00000263743:P278L	P	-	2	0	DVL1	1261614	1.000000	0.71417	0.838000	0.33150	0.089000	0.18198	8.445000	0.90326	2.607000	0.88179	0.555000	0.69702	CCG		TCGA-IB-7651-01A-11D-2154-08	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	1	0	0	26	125	0	21	1	5.914101e-01	4	7	0	21	2		0	0	0	0	0	2	1	9.999999e-01	25	119	0	21	2								-20.000000	1	0	117600	2	29	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.790000	1.000000	0.990000	0.942477	0.950000	1	8.800000e-01	9.900000e-01
AADACL4	343066	broad.mit.edu	37	1	12726629	12726629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726629G>A	ENST00000376221.1	+	4	1107	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4			17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			GCGTGACATGGTACCACCTGT	0.478000																								0							SO:0001587	stop_gained			ENST00000376221.1	0	1	hg19	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311381	0.23821	.	.	ENSG00000204518	ENST00000376221	.	.	.	4.53	1.47	0.22746	.	0.068503	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6505	5.0584	0.14544	0.0817:0.1461:0.621:0.1512	.	.	.	.	X	369	.	ENSP00000365395:W369X	W	+	3	0	AADACL4	12649216	0.994000	0.37717	0.004000	0.12327	0.020000	0.10135	2.300000	0.43620	0.120000	0.18254	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	1	0	0	65	543	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	65	532	0	123	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.943658	0.950000	1	8.800000e-01	9.900000e-01
AADACL4	343066	broad.mit.edu	37	1	12726682	12726682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726682C>T	ENST00000376221.1	+	4	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4			17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			GATAAGAAGGCTCTCTCTTTC	0.478000																								0							SO:0001583	missense			ENST00000376221.1	1	1	hg19	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	4.428	0.079249	0.08533	.	.	ENSG00000204518	ENST00000376221	T	0.04234	3.67	4.53	-9.05	0.00730	.	1.865950	0.02502	N	0.090580	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36553	-0.9743	10	0.17369	T	0.5	12.6824	3.0524	0.06173	0.1666:0.3435:0.341:0.1489	.	387	Q5VUY2	ADCL4_HUMAN	V	387	ENSP00000365395:A387V	ENSP00000365395:A387V	A	+	2	0	AADACL4	12649269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.630000	0.00032	-3.514000	0.00149	-0.882000	0.02950	GCT		TCGA-IB-7651-01A-11D-2154-08	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	1	0	0	54	495	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	53	486	0	111	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.750000	1.000000	0.990000	0.918705	0.920000	1	8.400000e-01	9.800000e-01
DVL1	1855	broad.mit.edu	37	1	1275450	1275450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275450C>T	ENST00000378888.5	-	8	1161	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	DVL1_ENST00000378891.5_Missense_Mutation_p.G293S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1			13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			TCGATGCGGCCGTCAGCGGCC	0.647000																								0							SO:0001583	missense			ENST00000378888.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.53	3.643377	0.67244	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.60548	0.18;0.18	3.43	3.43	0.39272	PDZ/DHR/GLGF (4);	0.117824	0.56097	D	0.000023	T	0.81143	0.4761	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.921;0.991	D	0.87372	0.2351	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	293;293	O14640;O14640-2	DVL1_HUMAN;.	S	293	ENSP00000368169:G293S;ENSP00000368166:G293S	ENSP00000368166:G293S	G	-	1	0	DVL1	1265313	1.000000	0.71417	0.892000	0.35008	0.156000	0.22039	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	GGC		TCGA-IB-7651-01A-11D-2154-08	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	1	0	0	36	331	0	50	1	9.999868e-01	32	126	0	50	2		0	0	0	0	0	2	1	1	35	320	0	49	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.900000	0.700000	1.000000	0.990000	0.896802	0.900000	1	8.000000e-01	9.800000e-01
DVL1	1855	broad.mit.edu	37	1	1275821	1275821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275821C>T	ENST00000378888.5	-	6	952	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1			13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CTGCTTCCTCCGCCGGCGTTT	0.667000																								0							SO:0001583	missense			ENST00000378888.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.61	3.661443	0.67700	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.06687	3.33;3.27	3.79	3.79	0.43588	.	0.064020	0.64402	D	0.000008	T	0.27419	0.0673	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.04522	-1.0945	10	0.54805	T	0.06	.	16.225	0.82285	0.0:1.0:0.0:0.0	.	223	O14640-2	.	Q	223	ENSP00000368169:R223Q;ENSP00000368166:R223Q	ENSP00000368166:R223Q	R	-	2	0	DVL1	1265684	1.000000	0.71417	0.955000	0.39395	0.616000	0.37450	7.146000	0.77373	2.127000	0.65507	0.306000	0.20318	CGG		TCGA-IB-7651-01A-11D-2154-08	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	1	0	1	10	115	0	22	1	9.999210e-01	35	190	0	22	2		0	0	0	0	0	2	1	9.954528e-01	9	104	0	18	2								-15.054870	1	1	121040	4	26	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.750000	0.420000	0.980000	0.810000	0.750290	0.750000	0	5.800000e-01	9.200000e-01
AADACL3	126767	broad.mit.edu	37	1	12780892	12780892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12780892C>A	ENST00000359318.5	+	3	427	c.222C>A	c.(220-222)caC>caA	p.H74Q	AADACL3_ENST00000332530.3_Missense_Mutation_p.H4Q	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3			15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)			TAGAAACCCACCATGGCATAT	0.507000																								0							SO:0001583	missense			ENST00000359318.5	1	1	hg19	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769079	0.49680	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10382	2.88;2.88	5.23	2.27	0.28462	Alpha/beta hydrolase fold-3 (1);	0.855661	0.10581	N	0.657924	T	0.34919	0.0914	M	0.90814	3.15	0.09310	N	1	B;D	0.62365	0.04;0.991	B;D	0.64506	0.062;0.926	T	0.09357	-1.0678	10	0.66056	D	0.02	-0.5016	7.4747	0.27369	0.0:0.5493:0.0:0.4507	.	74;4	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	Q	4;74	ENSP00000333352:H4Q;ENSP00000352268:H74Q	ENSP00000333352:H4Q	H	+	3	2	AADACL3	12703479	0.001000	0.12720	0.002000	0.10522	0.976000	0.68499	0.092000	0.15066	0.196000	0.20367	0.491000	0.48974	CAC		TCGA-IB-7651-01A-11D-2154-08	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	1	0	1	84	387	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	83	377	0	91	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982850	0.980000	1	9.600000e-01	1
C1orf158	93190	broad.mit.edu	37	1	12819304	12819304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12819304G>A	ENST00000288048.5	+	3	503	c.287G>A	c.(286-288)aGc>aAc	p.S96N	C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158			10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			TACCTGATCAGCACCTATGAC	0.562000																								0							SO:0001583	missense			ENST00000288048.5	1	1	hg19	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804930	0.70682	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.62788	0.0;0.25	5.17	5.17	0.71159	.	0.115133	0.56097	D	0.000026	T	0.78898	0.4356	M	0.79475	2.455	0.50171	D	0.999856	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.81625	-0.0848	10	0.87932	D	0	-32.5078	14.1817	0.65578	0.0:0.0:1.0:0.0	.	96;96	B4DQE0;Q8N1D5	.;CA158_HUMAN	N	96;58	ENSP00000288048:S96N;ENSP00000365383:S58N	ENSP00000288048:S96N	S	+	2	0	C1orf158	12741891	0.991000	0.36638	0.998000	0.56505	0.605000	0.37080	2.100000	0.41777	2.428000	0.82296	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	1	0	0	51	970	0	253		0	0	0	0	253	2		0	0	0	0	0	2	1	1	51	946	0	252	2								-6.103117	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.530000	0.400000	0.680000	0.530000	0.541952	0.530000	0	4.600000e-01	6.100000e-01
PRAMEF12	390999	broad.mit.edu	37	1	12835753	12835753	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12835753G>T	ENST00000357726.4	+	2	382	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12			23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			ATGGTCTGGAGCTTCTGCACT	0.537000																								0							SO:0001583	missense			ENST00000357726.4	1	1	hg19	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	8.614	0.889750	0.17540	.	.	ENSG00000116726	ENST00000357726	T	0.17213	2.29	2.8	-2.5	0.06384	.	3.019180	0.01114	N	0.005651	T	0.22704	0.0548	L	0.42581	1.335	0.09310	N	1	D	0.54207	0.965	P	0.54664	0.758	T	0.38887	-0.9640	10	0.10111	T	0.7	.	7.5906	0.28019	0.6577:0.0:0.3423:0.0	.	119	O95522	PRA12_HUMAN	S	119	ENSP00000350358:A119S	ENSP00000350358:A119S	A	+	1	0	PRAMEF12	12758340	0.001000	0.12720	0.001000	0.08648	0.166000	0.22503	-0.190000	0.09615	-0.686000	0.05170	-0.657000	0.03884	GCT		TCGA-IB-7651-01A-11D-2154-08	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	1	0	1	184	738	0	225		0	0	0	0	225	2		0	0	0	0	0	2	1	1	184	726	0	224	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994191	0.990000	1	9.800000e-01	1
PRAMEF12	390999	broad.mit.edu	37	1	12836043	12836043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12836043G>A	ENST00000357726.4	+	2	672	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12			23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			GCCCGTGGGAGCTGTCCATTC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000357726.4	1	1	hg19	CCDS41254.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	1	0	0	59	554	0	140		0	0	0	0	140	2		0	0	0	0	0	2	1	1	58	538	0	140	2								-17.624550	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.750000	1.000000	0.990000	0.917308	0.920000	1	8.400000e-01	9.800000e-01
PRAMEF12	390999	broad.mit.edu	37	1	12837595	12837595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837595G>A	ENST00000357726.4	+	3	1332	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12			23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			TTGGGGCTGAGCTGATGAAGA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000357726.4	1	1	hg19	CCDS41254.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	1	0	0	61	608	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	60	596	0	159	2								-16.734180	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.900000	0.730000	1.000000	0.970000	0.902172	0.900000	1	8.200000e-01	9.700000e-01
PRAMEF12	390999	broad.mit.edu	37	1	12837727	12837727	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837727G>T	ENST00000357726.4	+	3	1464	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12			23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			CCTGCTGTCAGGGTGGATTTA	0.502000																								0							SO:0001583	missense			ENST00000357726.4	0	1	hg19	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	7.381	0.628857	0.14257	.	.	ENSG00000116726	ENST00000357726	T	0.01369	4.97	2.45	1.49	0.22878	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P	0.46142	0.873	B	0.42245	0.381	T	0.54364	-0.8305	9	0.87932	D	0	.	6.5031	0.22180	0.0:0.0:0.7144:0.2856	.	479	O95522	PRA12_HUMAN	H	479	ENSP00000350358:Q479H	ENSP00000350358:Q479H	Q	+	3	2	PRAMEF12	12760314	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.035000	0.13797	0.553000	0.29044	0.205000	0.17691	CAG		TCGA-IB-7651-01A-11D-2154-08	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	0	0	0	19	383	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	9.999898e-01	19	376	0	71	2								-2.850897	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.500000	0.310000	0.740000	0.500000	0.519886	0.500000	0	4.000000e-01	6.300000e-01
PRAMEF1	65121	broad.mit.edu	37	1	12854104	12854104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854104G>A	ENST00000332296.7	+	3	431	c.328G>A	c.(328-330)Gag>Aag	p.E110K	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	p.E110*(2)		35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			GGATGTTGACGAGAATTTCTG	0.532000																								2	Substitution - Nonsense(2)						SO:0001583	missense			ENST00000332296.7	0	1	hg19	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.043691	0.36085	.	.	ENSG00000116721	ENST00000332296	T	0.17370	2.28	1.7	-0.472	0.12115	.	1.946400	0.02597	N	0.100687	T	0.34978	0.0916	L	0.59912	1.85	0.09310	N	1	D	0.89917	1.0	D	0.67725	0.953	T	0.20874	-1.0262	10	0.37606	T	0.19	.	7.2625	0.26212	0.0:0.4738:0.5262:0.0	.	110	O95521	PRAM1_HUMAN	K	110	ENSP00000332134:E110K	ENSP00000332134:E110K	E	+	1	0	PRAMEF1	12776691	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.331000	0.19733	-0.115000	0.11915	-0.401000	0.06369	GAG		TCGA-IB-7651-01A-11D-2154-08	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	1	0	0	132	2117	0	606		0	0	0	0	606	2		0	0	0	0	0	2	1	1	34	1392	0	621	2								-14.258150	1	1	121412	2	33	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.620000	0.520000	0.730000	0.630000	0.633273	0.620000	0	5.700000e-01	6.800000e-01
PRAMEF1	65121	broad.mit.edu	37	1	12854270	12854270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854270G>T	ENST00000332296.7	+	3	597	c.494G>T	c.(493-495)aGa>aTa	p.R165I	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1			35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)			GAATGCCTGAGATACCTCTTC	0.468000																								0							SO:0001583	missense			ENST00000332296.7	0	1	hg19	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	4.183	0.032520	0.08101	.	.	ENSG00000116721	ENST00000332296	T	0.04454	3.62	1.74	-3.49	0.04724	.	0.681446	0.14085	N	0.342416	T	0.01835	0.0058	N	0.03324	-0.35	0.09310	N	1	B	0.22909	0.077	B	0.19666	0.026	T	0.39292	-0.9621	10	0.51188	T	0.08	.	4.8258	0.13416	0.0:0.5477:0.1809:0.2714	.	165	O95521	PRAM1_HUMAN	I	165	ENSP00000332134:R165I	ENSP00000332134:R165I	R	+	2	0	PRAMEF1	12776857	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.077000	0.03416	-1.126000	0.02929	-2.386000	0.00229	AGA		TCGA-IB-7651-01A-11D-2154-08	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	0	0	0	141	1387	1	386		0	0	0	1	386	2		0	0	0	0	0	2	1	1	102	836	1	719	7								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.820000	1.000000	0.990000	0.937360	0.940000	1	8.800000e-01	9.900000e-01
HNRNPCL1	343069	broad.mit.edu	37	1	12907993	12907993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12907993C>A	ENST00000317869.6	-	2	375	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1			29					AGGCAAAGCCCTTATGAACAG	0.458000																								0							SO:0001583	missense			ENST00000317869.6	1	1	hg19	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303196	0.40795	.	.	ENSG00000179172	ENST00000317869	T	0.52983	0.64	1.09	0.111	0.14619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000002	T	0.44973	0.1319	M	0.68317	2.08	0.49130	D	0.999759	P	0.41978	0.767	B	0.44224	0.444	T	0.34900	-0.9810	10	0.54805	T	0.06	.	7.017	0.24892	0.0:0.7118:0.2881:0.0	.	50	O60812	HNRCL_HUMAN	N	50	ENSP00000365370:K50N	ENSP00000365370:K50N	K	-	3	2	HNRNPCL1	12830580	1.000000	0.71417	0.379000	0.26080	0.121000	0.20230	0.593000	0.23999	0.051000	0.15978	-0.527000	0.04329	AAG		TCGA-IB-7651-01A-11D-2154-08	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	1	0	0	72	660	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	56	527	0	142	2								-2.665581	1	1	0	0		1						0.170000	2.060000									0	0
ATAD3C	219293	broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C			7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			TGTCAAAGGACGCCCTGAATC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000378785.2	1	1	hg19	CCDS44039.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	1	0	0	6	103	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.643556e-01	6	101	0	32	2								-9.796513	1	1	121262	4	30	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.570000	0.250000	0.940000	0.550000	0.590259	0.570000	0	3.900000e-01	7.900000e-01
ATAD3C	219293	broad.mit.edu	37	1	1389854	1389854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1389854C>A	ENST00000378785.2	+	4	1347	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C			7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			CATCACGGTGCTTGAGGCGCT	0.667000																								0							SO:0001583	missense			ENST00000378785.2	0	1	hg19	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437772	0.12104	.	.	ENSG00000215915	ENST00000378785	D	0.94280	-3.39	2.51	1.4	0.22301	.	0.515223	0.20329	N	0.094461	D	0.89259	0.6664	M	0.62723	1.935	0.32744	N	0.50728	B	0.23442	0.085	B	0.18561	0.022	D	0.86832	0.2011	10	0.40728	T	0.16	.	6.6244	0.22820	0.0:0.817:0.0:0.183	.	118	Q5T2N8	ATD3C_HUMAN	I	118	ENSP00000368062:L118I	ENSP00000368062:L118I	L	+	1	0	ATAD3C	1379717	1.000000	0.71417	0.996000	0.52242	0.090000	0.18270	2.244000	0.43124	1.224000	0.43551	0.195000	0.17529	CTT		TCGA-IB-7651-01A-11D-2154-08	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	1	0	0	11	75	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	9.984154e-01	10	73	0	20	2								-19.252280	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.870000	0.570000	1.000000	0.990000	0.856216	0.870000	1	7.300000e-01	9.700000e-01
PDPN	10630	broad.mit.edu	37	1	13940894	13940894	+	Missense_Mutation	SNP	C	C	T	rs142964620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:13940894C>T	ENST00000509009.1	+	5	499	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000294489.6_Missense_Mutation_p.S233L|PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000376057.4_Missense_Mutation_p.S233L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L					podoplanin			16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)		CGAAAAATGTCGGGAAGGTAC	0.418000																								0							SO:0001583	missense			ENST00000509009.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.9	4.585070	0.86748	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.81	5.81	0.92471	.	0.000000	0.49305	D	0.000146	T	0.63581	0.2523	M	0.66939	2.045	0.43250	D	0.995171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.64931	-0.6291	10	0.87932	D	0	-28.3123	15.5833	0.76462	0.0:1.0:0.0:0.0	.	157;115;233;233	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	L	233;233;224;152;115;115;115;115	ENSP00000294489:S233L;ENSP00000365225:S233L;ENSP00000426302:S224L;ENSP00000422977:S152L;ENSP00000365229:S115L;ENSP00000425304:S115L;ENSP00000427537:S115L;ENSP00000426063:S115L	ENSP00000294489:S233L	S	+	2	0	PDPN	13813481	0.997000	0.39634	0.987000	0.45799	0.922000	0.55478	4.468000	0.60162	2.765000	0.95021	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	1	0	1	86	372	0	100	0	1	0	455	0	100	2		0	0	0	0	0	2	1	1	81	368	0	99	2								-3.154766	1	1	121412	2	38	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.920000	0.870000	1.000000	0.930000	0.937496	0.920000	1	9.000000e-01	1
PRDM2	7799	broad.mit.edu	37	1	14075893	14075893	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14075893A>C	ENST00000235372.7	+	6	1278	c.422A>C	c.(421-423)aAt>aCt	p.N141T	PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T|PRDM2_ENST00000343137.4_5'Flank|PRDM2_ENST00000505823.1_5'Flank|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000503842.1_5'Flank|PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000413440.1_5'Flank	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain			55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)		GTCTGGTACAATGGGGAAGAC	0.667000																								0							SO:0001583	missense			ENST00000235372.7	1	1	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	a	14.81	2.646882	0.47258	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.69	3.69	0.42338	SET domain (3);	0.117295	0.56097	D	0.000024	T	0.78246	0.4253	L	0.34521	1.04	0.44129	D	0.996916	B;B;B	0.28178	0.202;0.168;0.005	B;B;B	0.39771	0.309;0.205;0.021	T	0.75453	-0.3312	10	0.39692	T	0.17	.	10.6381	0.45577	1.0:0.0:0.0:0.0	.	141;141;141	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	T	132;141;141;141;141	ENSP00000423010:N132T;ENSP00000365216:N141T;ENSP00000235372:N141T;ENSP00000312352:N141T	ENSP00000235372:N141T	N	+	2	0	PRDM2	13948480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.925000	0.56484	1.661000	0.50771	0.524000	0.50904	AAT		TCGA-IB-7651-01A-11D-2154-08	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	1	0	0	18	91	0	23	0	4.066417e-01	0	8	0	23	2		0	0	0	0	0	2	1	9.999889e-01	18	90	0	23	2								-20.000000	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.880000	0.680000	1.000000	0.930000	0.868847	0.880000	1	7.900000e-01	9.300000e-01
PRDM2	7799	broad.mit.edu	37	1	14105221	14105221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105221C>T	ENST00000235372.7	+	8	1787	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain			55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)		GCCAGAAATACGGTGTGATGA	0.423000																								0							SO:0001583	missense			ENST00000235372.7	1	1	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927125	0.34002	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01705	4.79;4.68;4.68;4.68	5.67	4.73	0.59995	.	0.997794	0.08122	N	0.994503	T	0.07908	0.0198	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.89917	0.999;0.978;1.0;1.0	P;B;D;D	0.64321	0.841;0.328;0.922;0.924	T	0.37753	-0.9692	10	0.72032	D	0.01	.	11.1206	0.48287	0.0:0.7614:0.2386:0.0	.	311;169;311;311	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	W	311;311;311;110;110	ENSP00000235372:R311W;ENSP00000312352:R311W;ENSP00000411103:R110W;ENSP00000341621:R110W	ENSP00000235372:R311W	R	+	1	2	PRDM2	13977808	0.000000	0.05858	0.822000	0.32727	0.952000	0.60782	0.436000	0.21526	2.666000	0.90696	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	1	0	1	84	319	0	77	1	9.999819e-01	8	55	0	77	2		0	0	0	0	0	2	1	1	81	305	0	75	2								-3.462541	1	1	121412	1	31	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.920000	0.870000	1.000000	0.930000	0.938924	0.920000	1	9.000000e-01	1
PRDM2	7799	broad.mit.edu	37	1	14105607	14105607	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105607C>T	ENST00000235372.7	+	8	2173	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	PRDM2_ENST00000311066.5_Silent_p.N439N|PRDM2_ENST00000343137.4_Silent_p.N238N|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain			55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)		CTGGAGAAAACGTTGCTTCAA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000235372.7	1	1	hg19	CCDS150.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	1	0	1	70	220	0	67	1	9.995313e-01	7	32	0	67	2		0	0	0	0	0	2	1	1	69	218	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.920000	0.870000	1.000000	0.930000	0.936625	0.920000	1	9.000000e-01	1
PRDM2	7799	broad.mit.edu	37	1	14107778	14107778	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14107778A>G	ENST00000235372.7	+	8	4344	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain			55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)		TGGCCCTTCAAATGTGAATTT	0.353000																								0							SO:0001583	missense			ENST00000235372.7	1	1	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932550	0.73442	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.60067	1.865	0.58432	D	0.999991	D;D;D	0.89917	0.98;0.999;1.0	D;D;D	0.85130	0.912;0.994;0.997	T	0.51426	-0.8707	10	0.54805	T	0.06	.	15.2744	0.73732	1.0:0.0:0.0:0.0	.	1021;1163;1163	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	R	1163;1163;1163;962;962	ENSP00000235372:K1163R;ENSP00000312352:K1163R;ENSP00000411103:K962R;ENSP00000341621:K962R	ENSP00000235372:K1163R	K	+	2	0	PRDM2	13980365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.288000	0.76882	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	0	0	0	21	572	1	126	0	3.226765e-01	2	52	1	126	3		0	0	0	0	0	2	1	9.999971e-01	21	563	0	125	2								-18.870480	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.370000	0.240000	0.550000	0.370000	0.388883	0.370000	0	3.000000e-01	4.700000e-01
PRDM2	7799	broad.mit.edu	37	1	14109100	14109100	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14109100T>G	ENST00000235372.7	+	8	5666	c.4810T>G	c.(4810-4812)Tcc>Gcc	p.S1604A	PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain			55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)		TGCTCAGCTTTCCAGCAAAAC	0.453000																								0							SO:0001583	missense			ENST00000235372.7	1	1	hg19	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	0.736	-0.778059	0.02929	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01505	4.94;4.82;4.83;4.83	6.07	2.34	0.29019	.	0.425927	0.25929	N	0.027383	T	0.01124	0.0037	N	0.17674	0.51	0.09310	N	1	B;B;B	0.22683	0.073;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.001	T	0.48490	-0.9031	10	0.05620	T	0.96	.	8.4467	0.32847	0.1201:0.0:0.4366:0.4433	.	1462;1604;1604	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	A	1604;1604;1604;1403;1403	ENSP00000235372:S1604A;ENSP00000312352:S1604A;ENSP00000411103:S1403A;ENSP00000341621:S1403A	ENSP00000235372:S1604A	S	+	1	0	PRDM2	13981687	0.000000	0.05858	0.741000	0.31004	0.125000	0.20455	0.034000	0.13776	0.540000	0.28808	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	1	0	1	36	294	0	83	1	9.974829e-01	6	71	0	83	2		0	0	0	0	0	2	1	1	36	286	0	83	2								-14.152880	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.880000	0.710000	1.000000	0.930000	0.873336	0.880000	1	8.000000e-01	9.300000e-01
PDE4DIP	9659	broad.mit.edu	37	1	144854181	144854181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144854181G>A	ENST00000369354.3	-	43	7172	c.6983C>T	c.(6982-6984)gCa>gTa	p.A2328V	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2464V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					GTTAGTCCTTGCCTTCTTTAA	0.463000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001583	missense			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.094288	0.76870	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.06528	3.42;3.29;3.5;3.56;3.45	4.09	4.09	0.47781	.	.	.	.	.	T	0.17066	0.0410	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.65140	0.791;0.932	T	0.01516	-1.1335	9	0.87932	D	0	.	14.3364	0.66592	0.0:0.0:1.0:0.0	.	2222;2328	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2222;2328;2328;2413;2464	ENSP00000327209:A2222V;ENSP00000358360:A2328V;ENSP00000358363:A2328V;ENSP00000435654:A2413V;ENSP00000358366:A2464V	ENSP00000327209:A2222V	A	-	2	0	PDE4DIP	143565538	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.924000	0.75823	2.044000	0.60594	0.442000	0.29010	GCA		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	0	0	0	5	183	0	43	0	2.789223e-01	0	33	0	43	2		0	0	0	0	0	2	1	9.319678e-01	6	175	0	43	2								-3.521358	1	1	121412	1	26	1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.360000	0.140000	0.730000	0.330000	0.395985	0.360000	0	2.300000e-01	5.400000e-01
PDE4DIP	9659	broad.mit.edu	37	1	144855838	144855838	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144855838C>G	ENST00000369354.3	-	41	6904	c.6715G>C	c.(6715-6717)Gcc>Ccc	p.A2239P	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2375P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					TGGTGCAGGGCACTGGTGCTG	0.582000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001583	missense			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.843624	0.91197	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01787	4.64;4.75;4.74;4.74;4.75	4.42	3.22	0.36961	.	.	.	.	.	T	0.01940	0.0061	M	0.67953	2.075	0.32038	N	0.598654	P;D	0.55800	0.95;0.973	P;P	0.52424	0.698;0.674	T	0.43015	-0.9417	9	0.62326	D	0.03	.	4.5549	0.12131	0.0:0.7086:0.0:0.2914	.	2133;2239	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	P	2133;2239;2239;2324;2375	ENSP00000327209:A2133P;ENSP00000358360:A2239P;ENSP00000358363:A2239P;ENSP00000435654:A2324P;ENSP00000358366:A2375P	ENSP00000327209:A2133P	A	-	1	0	PDE4DIP	143567195	0.994000	0.37717	0.894000	0.35097	0.641000	0.38312	2.755000	0.47540	2.191000	0.70037	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1	51	273	0	68	0	8.434478e-01	0	20	0	68	2		0	0	0	0	0	2	1	1	51	240	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144857634C>T	ENST00000369354.3	-	39	6609	c.6420G>A	c.(6418-6420)acG>acA	p.T2140T	PDE4DIP_ENST00000369359.4_Silent_p.T2276T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.T2034T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					TGATTATGGGCGTTTCTGAGC	0.483000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001819	synonymous_variant			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.261815	0.23051	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.89	-9.79	0.00494	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.5879	0.02648	0.1528:0.1687:0.3577:0.3208	.	.	.	.	H	217	.	.	R	-	2	0	PDE4DIP	143568991	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.813000	0.01725	-3.163000	0.00227	-0.410000	0.06199	CGC		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0	131	1469	0	289	0	6.811219e-01	0	28	0	289	2		0	0	0	0	0	2	1	1	129	1451	0	288	2								-20.000000	1	1	121412	10	42	1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.984611	0.990000	1	9.500000e-01	1
PDE4DIP	9659	broad.mit.edu	37	1	144863415	144863415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144863415C>T	ENST00000369354.3	-	37	6177	c.5988G>A	c.(5986-5988)caG>caA	p.Q1996Q	PDE4DIP_ENST00000369359.4_Silent_p.Q2132Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					CACACTGTTGCTGCAGGAGAA	0.532000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001819	synonymous_variant			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088585	0.20390	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.83	2.92	0.33932	.	.	.	.	.	T	0.44138	0.1279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35051	-0.9804	4	.	.	.	.	8.6048	0.33767	0.0:0.8033:0.0:0.1967	.	.	.	.	N	153	.	.	S	-	2	0	PDE4DIP	143574772	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.648000	0.37271	0.542000	0.28846	0.484000	0.47621	AGC		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0	76	798	0	201	0	5.847199e-01	0	22	0	201	2		0	0	0	0	0	2	1	1	75	779	0	203	2								-18.508250	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.880000	1.000000	1.000000	0.990117	0.990000	1	9.900000e-01	1
PDE4DIP	9659	broad.mit.edu	37	1	144864303	144864303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144864303C>A	ENST00000369354.3	-	36	5981	c.5792G>T	c.(5791-5793)aGc>aTc	p.S1931I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2067I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					CTCCCTCAGGCTTTCTGTTTC	0.537000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001583	missense			ENST00000369354.3	1	1	hg19	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.583|7.583	0.669135|0.669135	0.14776|0.14776	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01665	.|4.7;4.81;4.81;4.8;4.81	4.52|4.52	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	N|N	0.08118|0.08118	0|0	0.24301|0.24301	N|N	0.995126|0.995126	.|B;B	.|0.26744	.|0.047;0.158	.|B;B	.|0.18871	.|0.023;0.021	T|T	0.46624|0.46624	-0.9178|-0.9178	5|9	.|0.51188	.|T	.|0.08	.|.	3.2333|3.2333	0.06756|0.06756	0.195:0.5389:0.0:0.2661|0.195:0.5389:0.0:0.2661	.|.	.|1825;1931	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	S|I	88|1825;1931;1931;2016;2067	.|ENSP00000327209:S1825I;ENSP00000358360:S1931I;ENSP00000358363:S1931I;ENSP00000435654:S2016I;ENSP00000358366:S2067I	.|ENSP00000327209:S1825I	A|S	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143575660|143575660	0.766000|0.766000	0.28496|0.28496	0.468000|0.468000	0.27192|0.27192	0.453000|0.453000	0.32348|0.32348	1.302000|1.302000	0.33459|0.33459	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GCC|AGC		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	0	0	0	65	665	0	124	0	4.596217e-01	0	17	0	124	2		0	0	0	0	0	2	1	1	64	652	0	123	2								-17.322230	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.880000	1.000000	1.000000	0.991556	0.990000	1	9.900000e-01	1
PDE4DIP	9659	broad.mit.edu	37	1	144879119	144879119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144879119C>A	ENST00000369354.3	-	27	4520	c.4331G>T	c.(4330-4332)aGa>aTa	p.R1444I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					CTGGGATACTCTCTGGATGAG	0.562000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001583	missense			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225105	0.95173	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.03212	4.01;4.06;4.02;4.05;4.07	5.82	5.82	0.92795	.	.	.	.	.	T	0.12050	0.0293	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.00295	-1.1839	9	0.87932	D	0	.	17.5829	0.87973	0.0:1.0:0.0:0.0	.	1400;1444	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	1400;1444;1444;1580;1580	ENSP00000327209:R1400I;ENSP00000358360:R1444I;ENSP00000358363:R1444I;ENSP00000435654:R1580I;ENSP00000358366:R1580I	ENSP00000327209:R1400I	R	-	2	0	PDE4DIP	143590476	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.774000	0.75012	2.765000	0.95021	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0	31	704	0	190	0	1.376450e-01	0	15	0	190	2		0	0	0	0	0	2	1	1	31	689	0	190	2								-3.919161	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.540000	0.370000	0.740000	0.540000	0.551783	0.540000	0	4.500000e-01	6.400000e-01
PDE4DIP	9659	broad.mit.edu	37	1	144882762	144882762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144882762G>A	ENST00000369354.3	-	24	3446	c.3257C>T	c.(3256-3258)aCt>aTt	p.T1086I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					GGTTACCACAGTCTCAACCAT	0.502000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001583	missense			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672060	0.47781	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01474	4.86;4.86;4.85;4.86	5.27	3.32	0.38043	.	.	.	.	.	T	0.01222	0.0040	L	0.51422	1.61	0.18873	N	0.999989	D	0.56521	0.976	P	0.47864	0.559	T	0.53027	-0.8496	9	0.42905	T	0.14	.	5.7399	0.18087	0.0915:0.0:0.5945:0.314	.	1086	Q5VU43	MYOME_HUMAN	I	1086;1086;1223;1223	ENSP00000358360:T1086I;ENSP00000358363:T1086I;ENSP00000435654:T1223I;ENSP00000358366:T1223I	ENSP00000358360:T1086I	T	-	2	0	PDE4DIP	143594119	0.389000	0.25205	0.098000	0.21074	0.858000	0.48976	1.796000	0.38794	2.742000	0.94016	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0	66	1377	0	335	0	1.686111e-01	0	16	0	335	2		0	0	0	0	0	2	1	1	66	1337	0	335	2								-6.127584	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.580000	0.450000	0.730000	0.580000	0.590526	0.580000	0	5.100000e-01	6.600000e-01
PDE4DIP	9659	broad.mit.edu	37	1	144917575	144917575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144917575C>T	ENST00000369354.3	-	12	1718	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R673H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	p.R510H(1)|p.R673H(1)		176					CACAGCAAGACGAAGCTGGCG	0.448000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	2	Substitution - Missense(2)						SO:0001583	missense			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026704	0.19512	0.0	2.33E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12774	4.66;4.73;4.73;4.75;4.74;3.74;3.74;2.66;2.66;2.65	6.04	-0.323	0.12709	.	.	.	.	.	T	0.02156	0.0067	N	0.16307	0.4	0.20764	N	0.999859	B;B;B;B;B;B	0.27192	0.018;0.009;0.0;0.022;0.171;0.006	B;B;B;B;B;B	0.17098	0.01;0.012;0.0;0.009;0.017;0.001	T	0.45041	-0.9288	9	0.25751	T	0.34	.	9.7616	0.40534	0.0:0.4482:0.0:0.5518	.	673;297;510;673;576;510	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	576;510;510;673;647;647;510;510;673;673;297	ENSP00000327209:R576H;ENSP00000358360:R510H;ENSP00000358363:R510H;ENSP00000435654:R647H;ENSP00000358366:R647H;ENSP00000358357:R510H;ENSP00000358355:R510H;ENSP00000316434:R673H;ENSP00000433392:R673H;ENSP00000436791:R297H	ENSP00000327209:R576H	R	-	2	0	PDE4DIP	143628932	0.235000	0.23794	0.012000	0.15200	0.775000	0.43874	0.522000	0.22909	-0.060000	0.13132	-0.312000	0.09012	CGT		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0	74	1540	0	341	0	9.969699e-01	0	177	0	341	2		0	0	0	0	0	2	1	1	72	1506	0	340	2								-6.634337	1	1	121412	14	43	1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.580000	0.450000	0.720000	0.580000	0.591229	0.580000	0	5.100000e-01	6.600000e-01
PDE4DIP	9659	broad.mit.edu	37	1	144946641	144946641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946641G>A	ENST00000369354.3	-	5	809	c.620C>T	c.(619-621)aCt>aTt	p.T207I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T344I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|RNU2-38P_ENST00000410856.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					TTCCATGCTAGTTGGCTCCTC	0.443000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001583	missense			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	2.988	-0.208727	0.06140	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.03717	4.75;4.84;4.84;4.85;4.84;3.83;3.84	5.16	-2.16	0.07080	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28258	0.009;0.205;0.032	B;B;B	0.30401	0.007;0.115;0.013	T	0.47636	-0.9102	9	0.33940	T	0.23	.	0.9982	0.01472	0.171:0.2796:0.2715:0.2778	.	207;273;207	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	273;207;207;344;344;207;207;273	ENSP00000327209:T273I;ENSP00000358360:T207I;ENSP00000358363:T207I;ENSP00000435654:T344I;ENSP00000358366:T344I;ENSP00000358357:T207I;ENSP00000358355:T207I	ENSP00000327209:T273I	T	-	2	0	PDE4DIP	143657998	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	-0.162000	0.10964	-0.857000	0.03018	ACT		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1	34	296	0	62	0	7.039068e-01	0	23	0	62	2		0	0	0	0	0	2	1	1	34	291	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.930000	1.000000	1.000000	0.996420	0.990000	1	9.900000e-01	1
PDE4DIP	9659	broad.mit.edu	37	1	144946699	144946699	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946699G>T	ENST00000369354.3	-	5	751	c.562C>A	c.(562-564)Ctt>Att	p.L188I	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L325I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|RNU2-38P_ENST00000410856.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					TGTTCTACAAGCCTCTCCTGG	0.433000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001583	missense			ENST00000369354.3	1	1	hg19	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488927	0.64074	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078	T;T;T;T;T;T;T	0.04917	4.38;4.5;4.51;4.5;4.5;3.53;3.54	5.16	3.15	0.36227	.	.	.	.	.	T	0.10508	0.0257	M	0.65975	2.015	0.80722	D	1	B;D;D	0.76494	0.002;0.993;0.999	B;P;D	0.63957	0.011;0.86;0.92	T	0.01205	-1.1419	9	0.66056	D	0.02	.	10.3884	0.44154	0.0:0.0:0.6156:0.3844	.	188;254;188	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	I	254;188;188;325;325;188;188;254	ENSP00000327209:L254I;ENSP00000358360:L188I;ENSP00000358363:L188I;ENSP00000435654:L325I;ENSP00000358366:L325I;ENSP00000358357:L188I;ENSP00000358355:L188I	ENSP00000327209:L254I	L	-	1	0	PDE4DIP	143658056	0.998000	0.40836	0.925000	0.36789	0.734000	0.41952	1.902000	0.39848	0.636000	0.30508	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	1	63	427	0	105	0	9.270086e-01	0	32	0	105	2		0	0	0	0	0	2	1	1	63	411	0	101	2								-20.000000	1	0	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PDE4DIP	9659	broad.mit.edu	37	1	144994627	144994627	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144994627C>T	ENST00000369354.3	-	1	294	c.105G>A	c.(103-105)caG>caA	p.Q35Q	PDE4DIP_ENST00000369359.4_Silent_p.Q172Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein			176					CCTCATACTTCTGTTGCATGC	0.597000			T	PDGFRB	MPD										Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0							SO:0001819	synonymous_variant			ENST00000369354.3	1	1	hg19	CCDS30824.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	1	0	0	50	962	0	180	0	9.702610e-01	0	109	0	180	2		0	0	0	0	0	2	1	1	50	945	0	180	2								-6.418249	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.630000	0.470000	0.810000	0.630000	0.639947	0.630000	0	5.400000e-01	7.200000e-01
SEC22B	9554	broad.mit.edu	37	1	145103941	145103941	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145103941G>A	ENST00000453618.1	+	0	436							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)								TCAGAGTCAGGCTAAGTAACT	0.403000																								0											ENST00000453618.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	0	0	0	6	88	0	29	1	9.998399e-01	88	239	0	29	2		0	0	0	0	0	2	1	9.654684e-01	6	87	0	29	2								-4.833324	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.850000	0.360000	1.000000	1.000000	0.810616	0.850000	1	5.700000e-01	1
HFE2	148738	broad.mit.edu	37	1	145415658	145415658	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145415658T>C	ENST00000336751.5	+	3	715	c.477T>C	c.(475-477)ggT>ggC	p.G159G	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Silent_p.G46G|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)			14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				GGCTGCATGGTCGTCCCCCGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000336751.5	1	1	hg19	CCDS910.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	1	0	1	83	252	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	82	248	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HFE2	148738	broad.mit.edu	37	1	145416857	145416857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145416857C>T	ENST00000336751.5	+	4	1440	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V	HFE2_ENST00000475797.1_Missense_Mutation_p.A175V|HFE2_ENST00000357836.5_Missense_Mutation_p.A288V|HFE2_ENST00000497365.1_Missense_Mutation_p.A175V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)			14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				CCCTCAGATGCTGGGGTTCCT	0.542000																								0							SO:0001583	missense			ENST00000336751.5	1	1	hg19	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806749	0.31961	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;T;T	0.93547	-2.84;-3.24;-1.33;-1.33	5.44	3.55	0.40652	Repulsive guidance molecule, C-terminal (1);	0.615570	0.16395	N	0.216261	T	0.81351	0.4804	L	0.43152	1.355	0.32942	D	0.51858	B	0.11235	0.004	B	0.19391	0.025	T	0.65894	-0.6057	10	0.14656	T	0.56	-4.8878	10.1462	0.42764	0.0:0.8363:0.0:0.1637	.	401	Q6ZVN8	RGMC_HUMAN	V	288;401;175;175	ENSP00000350495:A288V;ENSP00000337014:A401V;ENSP00000421820:A175V;ENSP00000425716:A175V	ENSP00000337014:A401V	A	+	2	0	HFE2	144128214	0.781000	0.28676	0.287000	0.24848	0.116000	0.19942	0.827000	0.27421	0.840000	0.34995	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	1	0	1	88	397	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	85	390	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNIP	10628	broad.mit.edu	37	1	145438873	145438873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145438873G>A	ENST00000369317.4	+	1	405	c.71G>A	c.(70-72)gGc>gAc	p.G24D	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein			21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				TACGGCAGTGGCGAGAAGGTG	0.488000																								0							SO:0001583	missense			ENST00000369317.4	1	1	hg19	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597236	0.96602	.	.	ENSG00000117289	ENST00000369317	T	0.23348	1.91	5.64	5.64	0.86602	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.053612	0.85682	D	0.000000	T	0.52741	0.1753	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61068	-0.7137	10	0.87932	D	0	-0.422	17.1852	0.86865	0.0:0.0:1.0:0.0	.	24	Q9H3M7	TXNIP_HUMAN	D	24	ENSP00000358323:G24D	ENSP00000358323:G24D	G	+	2	0	TXNIP	144150230	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.980000	0.93460	2.665000	0.90641	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	0	0	0	12	397	0	73	1	1	135	4325	0	73	2		0	0	0	0	0	2	1	9.990208e-01	12	388	0	70	2								-3.657152	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.380000	0.200000	0.620000	0.370000	0.400542	0.380000	0	2.800000e-01	5.000000e-01
ANKRD34A	284615	broad.mit.edu	37	1	145474082	145474082	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145474082C>A	ENST00000323397.4	+	4	2047	c.754C>A	c.(754-756)Cta>Ata	p.L252I	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A			20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				GCCCTGGGGCCTAGTGGCCCC	0.642000																								0							SO:0001583	missense			ENST00000323397.4	1	1	hg19	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834704	0.32421	.	.	ENSG00000181039	ENST00000323397	T	0.76448	-1.02	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000016	T	0.77765	0.4179	L	0.49126	1.545	0.31274	N	0.691455	D	0.57571	0.98	D	0.73708	0.981	T	0.76192	-0.3049	10	0.59425	D	0.04	-7.7467	9.2101	0.37313	0.0:0.9037:0.0:0.0963	.	252	Q69YU3	AN34A_HUMAN	I	252	ENSP00000314103:L252I	ENSP00000314103:L252I	L	+	1	2	ANKRD34A	144185439	0.977000	0.34250	1.000000	0.80357	0.956000	0.61745	2.368000	0.44222	2.585000	0.87301	0.574000	0.79327	CTA		TCGA-IB-7651-01A-11D-2154-08	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1	1	0	1	121	702	0	201	1	8.988472e-01	3	22	0	201	2		0	0	0	0	0	2	1	1	121	676	0	192	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM8A	9939	broad.mit.edu	37	1	145508545	145508545	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145508545A>C	ENST00000330165.8	+	4	345	c.276A>C	c.(274-276)aaA>aaC	p.K92N	RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A			6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				TACACGACAAATTCGCAGAAT	0.453000																								0							SO:0001583	missense			ENST00000330165.8	1	1	hg19	CCDS916.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720441	0.48728	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.15952	2.38;2.38	4.32	1.93	0.25924	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055524	0.64402	D	0.000001	T	0.05456	0.0144	L	0.40543	1.245	0.58432	D	0.999998	B;B	0.28760	0.185;0.221	B;B	0.32762	0.094;0.152	T	0.20207	-1.0282	10	0.41790	T	0.15	-8.5494	5.7489	0.18136	0.7769:0.0:0.2231:0.0	.	91;92	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	N	92;91	ENSP00000333001:K92N;ENSP00000358313:K91N	ENSP00000333001:K92N	K	+	3	2	RBM8A	144219902	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	0.661000	0.25023	0.217000	0.20800	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	1	0	1	129	328	0	75	1	1	313	522	0	75	2		0	0	0	0	0	2	1	1	124	318	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA10	8515	broad.mit.edu	37	1	145536894	145536894	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145536894C>T	ENST00000369304.3	+	18	2449	c.2274C>T	c.(2272-2274)acC>acT	p.T758T	ITGA10_ENST00000538811.1_Silent_p.T627T|ITGA10_ENST00000539363.1_Silent_p.T615T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10			59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				TGACTGTGACCTTTGCCTTGG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000369304.3	1	1	hg19	CCDS918.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	1	0	1	242	733	0	174	0	6.953570e-01	1	8	0	174	2		0	0	0	0	0	2	1	1	237	717	0	172	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD35	148741	broad.mit.edu	37	1	145561096	145561096	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145561096G>A	ENST00000355594.4	+	10	871	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35			47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				TCCAACATAGGCCTCTCCATC	0.527000													Melanoma(9;127 754 22988 51047)											0							SO:0001630	splice_region_variant			ENST00000355594.4	1	0	hg19	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986217	0.35036	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.65916	-0.18	5.77	3.91	0.45181	.	0.239499	0.29602	N	0.011683	T	0.25232	0.0613	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.08086	-1.0739	9	.	.	.	-0.742	8.9586	0.35834	0.1698:0.0:0.8302:0.0	.	262	Q8N283	ANR35_HUMAN	T	171;262	ENSP00000347802:A262T	.	A	+	1	0	ANKRD35	144272453	1.000000	0.71417	0.986000	0.45419	0.137000	0.21094	1.100000	0.31025	0.908000	0.36671	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	1	0	1	40	131	0	33	0	0	0	1	0	33	2		0	0	0	0	0	2	1	1	40	127	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIAS3	10401	broad.mit.edu	37	1	145584278	145584278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145584278G>A	ENST00000393045.2	+	11	1519	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3			28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				TGCCATCCCGGCCCTACCTGG	0.488000																								0							SO:0001583	missense			ENST00000393045.2	1	1	hg19	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816415	0.16607	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.30448	1.53;1.53	5.64	3.8	0.43715	.	0.197182	0.35151	N	0.003403	T	0.06554	0.0168	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18967	-1.0320	10	0.08381	T	0.77	-8.8419	5.2502	0.15517	0.1643:0.0:0.6728:0.1629	.	477	Q9Y6X2	PIAS3_HUMAN	T	477;442	ENSP00000376765:A477T;ENSP00000358304:A442T	ENSP00000358304:A442T	A	+	1	0	PIAS3	144295635	0.629000	0.27146	0.579000	0.28588	0.835000	0.47333	1.000000	0.29770	0.954000	0.37851	-0.142000	0.14014	GCC		TCGA-IB-7651-01A-11D-2154-08	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	1	0	1	137	507	0	154	1	1	75	160	0	154	2		0	0	0	0	0	2	1	1	135	495	0	154	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUDT17	200035	broad.mit.edu	37	1	145587350	145587350	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145587350G>A	ENST00000334513.5	-	6	741	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17			9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				CTTACTTACAGGACAGAGGGT	0.522000																								0							SO:0001630	splice_region_variant			ENST00000334513.5	1	0	hg19	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169640	0.09339	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.84	0.521	0.17046	.	1.078730	0.07151	N	0.849176	T	0.08891	0.0220	L	0.36672	1.1	0.09310	N	1	B	0.33379	0.41	B	0.32465	0.146	T	0.32798	-0.9893	9	0.23302	T	0.38	9.6337	2.9457	0.05845	0.091:0.149:0.3038:0.4563	.	244	P0C025	NUD17_HUMAN	F	244	.	ENSP00000334437:L244F	L	-	1	0	NUDT17	144298707	0.002000	0.14202	0.019000	0.16419	0.939000	0.58152	0.317000	0.19487	-0.057000	0.13199	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	1	0	1	82	216	0	55	1	9.562587e-01	2	14	0	55	2		0	0	0	0	0	2	1	1	82	214	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATAD3A	55210	broad.mit.edu	37	1	1455928	1455928	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1455928G>A	ENST00000378755.5	+	7	919	c.825G>A	c.(823-825)agG>agA	p.R275R	ATAD3A_ENST00000378756.3_Splice_Site_p.R227R|ATAD3A_ENST00000536055.1_Splice_Site_p.R148R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A			20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			TTCCCCGCAGGACGGCTGGCA	0.587000																								0							SO:0001630	splice_region_variant			ENST00000378755.5	1	0	hg19	CCDS31.1	.	.	.	.	.	.	.	.	.	.	-	9.381	1.073035	0.20147	.	.	ENSG00000197785	ENST00000339113	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71702	-0.4513	4	.	.	.	.	16.3539	0.83228	0.0:0.0:1.0:0.0	.	.	.	.	N	213	.	.	D	+	1	0	ATAD3A	1445791	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.720000	0.84759	2.185000	0.69588	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	1	0	0	102	321	0	97	0	7.350528e-01	0	10	0	97	2		0	0	0	0	0	2	1	1	98	305	0	100	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989677	0.980000	1	9.700000e-01	1
RNF115	27246	broad.mit.edu	37	1	145663313	145663313	+	Missense_Mutation	SNP	G	G	A	rs148749353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145663313G>A	ENST00000369291.5	+	4	578	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_014455.2	NP_055270.1			ring finger protein 115			13					CCATTGGGTCGGAGATACAGA	0.458000																								0							SO:0001583	missense			ENST00000369291.5	1	1	hg19	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298000	0.23650	0.0	2.33E-4	ENSG00000121848	ENST00000369291	T	0.12361	2.69	5.14	2.14	0.27477	.	0.120515	0.53938	N	0.000056	T	0.01940	0.0061	N	0.08118	0	0.34876	D	0.744124	B	0.10296	0.003	B	0.04013	0.001	T	0.44559	-0.9320	10	0.27082	T	0.32	-4.4071	8.2455	0.31686	0.2735:0.0:0.7265:0.0	.	125	Q9Y4L5	RN115_HUMAN	Q	125	ENSP00000358297:R125Q	ENSP00000358297:R125Q	R	+	2	0	RNF115	144374670	1.000000	0.71417	0.921000	0.36526	0.519000	0.34347	2.408000	0.44574	0.288000	0.22398	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	1	0	0	33	388	0	77	1	9.997050e-01	6	140	0	77	2		0	0	0	0	0	2	1	1	33	380	0	75	2								-3.017763	1	1	121412	2	39	1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.700000	1.000000	1.000000	0.942288	0.990000	1	8.400000e-01	1
CD160	11126	broad.mit.edu	37	1	145704275	145704275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145704275G>A	ENST00000369288.2	-	4	359	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	CD160_ENST00000235933.6_Missense_Mutation_p.H48Y|CD160_ENST00000369290.1_Intron|CD160_ENST00000401557.3_Missense_Mutation_p.H48Y	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule			7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		TCTTTCTTATGCCATACAGTA	0.448000													Colon(182;1122 1999 4065 44014 53024)											0							SO:0001583	missense			ENST00000369288.2	1	1	hg19	CCDS923.1	.	.	.	.	.	.	.	.	.	.	G	1.750	-0.489403	0.04352	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.03242	4.0;4.0;4.0	4.34	-1.06	0.10002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.702414	0.12343	N	0.477329	T	0.00666	0.0022	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44097	-0.9350	10	0.19147	T	0.46	1.5738	7.9615	0.30074	0.4802:0.0:0.5198:0.0	.	48	O95971	BY55_HUMAN	Y	48	ENSP00000235933:H48Y;ENSP00000358294:H48Y;ENSP00000385199:H48Y	ENSP00000235933:H48Y	H	-	1	0	CD160	144415632	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.458000	0.06737	-0.109000	0.12044	-0.251000	0.11542	CAT		TCGA-IB-7651-01A-11D-2154-08	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	1	0	0	22	284	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	9.999985e-01	22	275	0	56	2								-7.484844	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.920000	0.600000	1.000000	1.000000	0.891625	0.920000	1	7.400000e-01	1
PDZK1	5174	broad.mit.edu	37	1	145748564	145748564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145748564G>A	ENST00000344770.2	+	3	510	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D|PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1			7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		GGCAGCTATGGCTTCTCTCTG	0.522000																								0							SO:0001583	missense			ENST00000344770.2	1	1	hg19	CCDS924.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657044	0.67586	.	.	ENSG00000174827	ENST00000443667;ENST00000417171;ENST00000451928;ENST00000344770	T;T;D;T	0.85339	-1.11;-1.11;-1.97;-1.11	5.84	4.93	0.64822	PDZ/DHR/GLGF (4);	0.096016	0.64402	D	0.000001	D	0.92747	0.7694	M	0.93978	3.48	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.99	D	0.94354	0.7582	10	0.87932	D	0	-0.2061	12.6429	0.56718	0.0798:0.0:0.9202:0.0	.	146;146	E7EU02;Q5T2W1	.;NHRF3_HUMAN	D	146	ENSP00000409291:G146D;ENSP00000394485:G146D;ENSP00000403422:G146D;ENSP00000342143:G146D	ENSP00000342143:G146D	G	+	2	0	PDZK1	144459921	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.210000	0.72176	1.485000	0.48380	-0.218000	0.12543	GGC		TCGA-IB-7651-01A-11D-2154-08	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	1	0	1	87	355	0	76	1	9.890410e-01	12	19	0	76	2		0	0	0	0	0	2	1	1	86	344	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATAD3A	55210	broad.mit.edu	37	1	1458924	1458924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1458924G>A	ENST00000378755.5	+	9	1178	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T	ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T|ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A			20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			ACCCCAGGACGCGCTGGAGGG	0.711000																								0							SO:0001583	missense			ENST00000378755.5	1	1	hg19	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.99|11.99	1.803877|1.803877	0.31869|0.31869	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055|ENST00000339113	D;D;D|.	0.94497|.	-3.22;-3.08;-3.44|.	4.8|4.8	3.89|3.89	0.44902|0.44902	.|.	0.111693|.	0.64402|.	D|.	0.000011|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.85299|0.85299	2.745|2.745	0.50813|0.50813	D|D	0.999893|0.999893	P;D|.	0.59357|.	0.786;0.985|.	B;P|.	0.46253|.	0.382;0.509|.	T|T	0.77752|0.77752	-0.2470|-0.2470	10|5	0.49607|.	T|.	0.09|.	.|.	12.0841|12.0841	0.53688|0.53688	0.084:0.0:0.916:0.0|0.084:0.0:0.916:0.0	.|.	314;362|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	T|H	314;362;235|299	ENSP00000368031:A314T;ENSP00000368030:A362T;ENSP00000439290:A235T|.	ENSP00000368030:A362T|.	A|R	+|+	1|2	0|0	ATAD3A|ATAD3A	1448787|1448787	1.000000|1.000000	0.71417|0.71417	0.724000|0.724000	0.30704|0.30704	0.023000|0.023000	0.10783|0.10783	5.587000|5.587000	0.67510|0.67510	1.025000|1.025000	0.39708|0.39708	0.556000|0.556000	0.70494|0.70494	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	1	0	1	29	137	0	24	1	9.982156e-01	17	33	0	24	2		0	0	0	0	0	2	1	1	28	135	0	24	2								-20.000000	1	1	121216	1	30	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.948519	0.950000	1	8.900000e-01	9.900000e-01
ATAD3A	55210	broad.mit.edu	37	1	1459323	1459323	+	Silent	SNP	C	C	T	rs113640550	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1459323C>T	ENST00000378755.5	+	10	1306	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	ATAD3A_ENST00000378756.3_Silent_p.T356T|ATAD3A_ENST00000536055.1_Silent_p.T277T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A			20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			CACCAGGCACCGGGAAGACGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000378755.5	1	0	hg19	CCDS31.1	18	0.008241758241758242	18	0.036585365853658534	0	0.0	0	0.0	0	0.0	c	0.340	-0.951160	0.02285	0.025647	0.0	ENSG00000197785	ENST00000339113	.	.	.	4.7	-9.41	0.00613	.	.	.	.	.	T	0.13329	0.0323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41698	-0.9494	4	.	.	.	.	4.3205	0.11015	0.0748:0.3435:0.2407:0.341	.	.	.	.	W	342	.	.	R	+	1	2	ATAD3A	1449186	0.000000	0.05858	0.063000	0.19743	0.076000	0.17211	-2.358000	0.01085	-2.405000	0.00575	-0.300000	0.09419	CGG		TCGA-IB-7651-01A-11D-2154-08	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	1	0	1	42	389	0	82	1	9.639738e-01	12	40	0	82	2		0	0	0	0	0	2	1	1	41	382	0	86	2								-2.690405	1	1	121406	286	57	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.903665	0.910000	1	8.200000e-01	9.800000e-01
PRKAB2	5565	broad.mit.edu	37	1	146631222	146631222	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146631222C>A	ENST00000254101.3	-	8	880		c.e8-1		PRKAB2_ENST00000496858.1_Splice_Site|PRKAB2_ENST00000425272.2_Splice_Site	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit			11	all_hematologic(923;0.0487)			Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TCACACTGTCCTGCAAGGAAA	0.438000																								0							SO:0001630	splice_region_variant			ENST00000254101.3	1	1	hg19	CCDS925.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027570	0.75390	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1174	0.86692	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKAB2	145097846	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.608000	0.67654	2.906000	0.99361	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	1	0	1	28	140	0	29	1	2.056075e-01	2	3	0	29	2		0	0	0	0	0	2	1	1	27	138	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PRKAB2	5565	broad.mit.edu	37	1	146643671	146643671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146643671G>A	ENST00000254101.3	-	2	191	c.53C>T	c.(52-54)gCt>gTt	p.A18V	RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|PRKAB2_ENST00000425272.2_5'UTR	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit			11	all_hematologic(923;0.0487)			Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GGAGCGTGCAGCCTTGGCGCC	0.701000																								0							SO:0001583	missense			ENST00000254101.3	0	1	hg19	CCDS925.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458603	0.63401	.	.	ENSG00000131791	ENST00000254101	.	.	.	4.23	4.23	0.50019	.	0.544208	0.19899	N	0.103548	T	0.27098	0.0664	N	0.19112	0.55	0.80722	D	1	B	0.14012	0.009	B	0.18263	0.021	T	0.08046	-1.0741	9	0.28530	T	0.3	.	14.1452	0.65347	0.0:0.0:1.0:0.0	.	18	O43741	AAKB2_HUMAN	V	18	.	ENSP00000254101:A18V	A	-	2	0	PRKAB2	145110295	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.694000	0.68272	2.179000	0.69175	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	1	0	0	15	47	0	8	1	9.286461e-01	6	11	0	8	2		0	0	0	0	0	2	1	9.999228e-01	14	46	0	8	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
FMO5	2330	broad.mit.edu	37	1	146672826	146672826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146672826G>A	ENST00000254090.4	-	7	1479	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L	FMO5_ENST00000441068.2_Missense_Mutation_p.P364L|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5			25	all_hematologic(923;0.0487)				TGCAAGAGTTGGCCTTTCCAG	0.453000																								0							SO:0001583	missense			ENST00000254090.4	1	1	hg19	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	31	5.073679	0.94000	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.60424	0.19;0.19	6.17	6.17	0.99709	.	0.101544	0.64402	D	0.000001	T	0.82001	0.4942	H	0.95079	3.62	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.77004	0.989;0.9	D	0.85815	0.1382	10	0.72032	D	0.01	-13.6878	18.3732	0.90420	0.0:0.0:1.0:0.0	.	364;364	P49326;C9JJD1	FMO5_HUMAN;.	L	364	ENSP00000416011:P364L;ENSP00000254090:P364L	ENSP00000254090:P364L	P	-	2	0	FMO5	145139450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.848000	0.99507	2.941000	0.99782	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	1	0	1	34	274	0	68	1	9.822906e-01	5	49	0	68	2		0	0	0	0	0	2	1	1	34	271	0	68	2								-13.766770	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998611	0.990000	1	9.900000e-01	1
CHD1L	9557	broad.mit.edu	37	1	146731508	146731508	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146731508T>G	ENST00000369258.4	+	6	532	c.512T>G	c.(511-513)cTt>cGt	p.L171R	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R|CHD1L_ENST00000369259.3_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like			33	all_hematologic(923;0.0487)				TGGAGTGTTCTTGTTGTGGAT	0.378000																								0							SO:0001583	missense			ENST00000369258.4	1	1	hg19	CCDS927.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157255	0.78114	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.95001	-3.58;-3.58	4.96	4.96	0.65561	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.97532	0.9192	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98374	1.0555	10	0.87932	D	0	.	11.3378	0.49513	0.0:0.0:0.0:1.0	.	171;171	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	R	171;171;71;132	ENSP00000389031:L171R;ENSP00000358262:L171R	ENSP00000254086:L132R	L	+	2	0	CHD1L	145198132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.048000	0.76606	1.993000	0.58246	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	1	0	1	188	1025	0	213	1	9.999769e-01	25	57	0	213	2		0	0	0	0	0	2	1	1	184	1005	0	211	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD1L	9557	broad.mit.edu	37	1	146766148	146766148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146766148C>T	ENST00000369258.4	+	22	2584	c.2564C>T	c.(2563-2565)aCt>aTt	p.T855I	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.T574I|CHD1L_ENST00000431239.1_Missense_Mutation_p.T761I|CHD1L_ENST00000369259.3_Missense_Mutation_p.T651I	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like			33	all_hematologic(923;0.0487)				TGGTATGGTACTGAGCGACTT	0.418000																								0							SO:0001583	missense			ENST00000369258.4	0	1	hg19	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593805	0.66219	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.7	5.7	0.88788	Appr-1-p processing (1);	0.050779	0.85682	D	0.000000	T	0.36880	0.0983	N	0.13352	0.335	0.80722	D	1	P;D;P	0.89917	0.89;1.0;0.915	P;D;B	0.91635	0.692;0.999;0.411	T	0.26538	-1.0100	10	0.33141	T	0.24	.	15.3248	0.74150	0.0:1.0:0.0:0.0	.	761;651;855	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	I	761;651;855;574	ENSP00000389031:T761I;ENSP00000358263:T651I;ENSP00000358262:T855I;ENSP00000355100:T574I	ENSP00000355100:T574I	T	+	2	0	CHD1L	145232772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.695000	0.74593	2.696000	0.92011	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	0	0	0	12	814	0	179	1	6.653100e-01	2	150	0	179	2		0	0	0	0	0	2	1	9.990105e-01	12	799	0	177	2								-2.843033	1	0	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.180000	0.090000	0.310000	0.180000	0.199617	0.180000	0	1.300000e-01	2.500000e-01
BCL9	607	broad.mit.edu	37	1	147092306	147092306	+	Missense_Mutation	SNP	G	G	T	rs34002844		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147092306G>T	ENST00000234739.3	+	8	3085	c.2345G>T	c.(2344-2346)aGa>aTa	p.R782I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9			7	all_hematologic(923;0.115)				ATGGGCCCCAGACCATTCCTT	0.582000			T	IGH@, IGL@	B-ALL										Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0							SO:0001583	missense			ENST00000234739.3	1	1	hg19	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438270	0.25900	.	.	ENSG00000116128	ENST00000234739	T	0.52526	0.66	5.0	4.09	0.47781	.	0.148378	0.64402	D	0.000013	T	0.21881	0.0527	N	0.19112	0.55	0.58432	D	0.999996	P;P	0.44578	0.838;0.838	B;B	0.41813	0.367;0.367	T	0.06679	-1.0813	10	0.51188	T	0.08	-13.7937	13.4586	0.61214	0.0751:0.0:0.9249:0.0	.	782;782	Q1JQ81;O00512	.;BCL9_HUMAN	I	782	ENSP00000234739:R782I	ENSP00000234739:R782I	R	+	2	0	BCL9	145558930	1.000000	0.71417	0.686000	0.30086	0.003000	0.03518	6.216000	0.72212	1.351000	0.45789	-0.136000	0.14681	AGA		TCGA-IB-7651-01A-11D-2154-08	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	1	0	1	25	182	0	43	1	9.719993e-01	8	37	0	43	2		0	0	0	0	0	2	1	9.999992e-01	21	155	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998894	0.990000	1	9.900000e-01	1
GJA5	2702	broad.mit.edu	37	1	147230480	147230480	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147230480G>T	ENST00000271348.2	-	2	1028	c.867C>A	c.(865-867)tcC>tcA	p.S289S	GJA5_ENST00000369237.1_Silent_p.S289S|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	p.S289S(1)		20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)		TGTTTTGTTGGGAGGCCATAT	0.532000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000271348.2	1	1	hg19	CCDS929.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	1	0	1	139	504	0	105	0	9.653107e-01	1	21	0	105	2		0	0	0	0	0	2	1	1	136	498	0	103	2								-3.756129	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GJA8	2703	broad.mit.edu	37	1	147380546	147380546	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380546T>C	ENST00000369235.1	+	1	464	c.464T>C	c.(463-465)aTc>aCc	p.I155T	GJA8_ENST00000240986.4_Missense_Mutation_p.I155T			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa			37	all_hematologic(923;0.0276)				ATCTGCCACATCATCTTCAAG	0.617000													Melanoma(76;1255 1795 8195 52096)											0							SO:0001583	missense			ENST00000369235.1	1	1	hg19	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	t	19.21	3.783079	0.70222	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.98192	-4.78;-4.78	5.06	5.06	0.68205	.	0.053149	0.64402	D	0.000001	D	0.98563	0.9520	M	0.78456	2.415	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	D	0.99819	1.1046	10	0.87932	D	0	.	14.7852	0.69796	0.0:0.0:0.0:1.0	.	155	P48165	CXA8_HUMAN	T	155	ENSP00000240986:I155T;ENSP00000358238:I155T	ENSP00000240986:I155T	I	+	2	0	GJA8	145847170	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.964000	0.87933	1.885000	0.54596	0.402000	0.26972	ATC		TCGA-IB-7651-01A-11D-2154-08	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	1	0	1	157	727	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	154	716	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GJA8	2703	broad.mit.edu	37	1	147380849	147380849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380849C>T	ENST00000369235.1	+	1	767	c.767C>T	c.(766-768)gCt>gTt	p.A256V	GJA8_ENST00000240986.4_Missense_Mutation_p.A256V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa			37	all_hematologic(923;0.0276)				CACTCCATTGCTGTCTCCTCC	0.562000													Melanoma(76;1255 1795 8195 52096)											0							SO:0001583	missense			ENST00000369235.1	1	1	hg19	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.708967	0.48517	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97791	-4.54;-4.54	4.4	4.4	0.53042	.	4.457000	0.00582	N	0.000325	D	0.95287	0.8471	L	0.32530	0.975	0.54753	D	0.999982	P	0.49783	0.928	P	0.45071	0.468	D	0.86106	0.1559	10	0.31617	T	0.26	.	17.1387	0.86747	0.0:1.0:0.0:0.0	.	256	P48165	CXA8_HUMAN	V	256	ENSP00000240986:A256V;ENSP00000358238:A256V	ENSP00000240986:A256V	A	+	2	0	GJA8	145847473	1.000000	0.71417	0.887000	0.34795	0.979000	0.70002	4.672000	0.61597	2.267000	0.75376	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	1	0	1	66	291	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	65	284	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GJA8	2703	broad.mit.edu	37	1	147381090	147381090	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381090G>A	ENST00000369235.1	+	1	1008	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	GJA8_ENST00000240986.4_Silent_p.P336P			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa			37	all_hematologic(923;0.0276)				GCGAGGGGCCGCCTGCAGAGG	0.657000													Melanoma(76;1255 1795 8195 52096)											0							SO:0001819	synonymous_variant			ENST00000369235.1	1	1	hg19	CCDS30834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	1	0	1	24	80	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999999e-01	24	78	0	12	2								-20.000000	1	0	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GJA8	2703	broad.mit.edu	37	1	147381177	147381177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381177C>T	ENST00000369235.1	+	1	1095	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	GJA8_ENST00000240986.4_Silent_p.A365A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	p.A365A(1)		37	all_hematologic(923;0.0276)				AGAAGGTGGCCGTGCCAGAGG	0.627000													Melanoma(76;1255 1795 8195 52096)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000369235.1	0	1	hg19	CCDS30834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	1	0	1	13	94	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.995457e-01	13	90	0	9	2								-19.930870	1	0	121214	3	33	1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.990000	0.890000	1.000000	1.000000	0.993883	0.990000	1	9.900000e-01	1
NBPF14	25832	broad.mit.edu	37	1	148009417	148009417	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148009417G>T	ENST00000369219.1	-	16	1906	c.1890C>A	c.(1888-1890)gaC>gaA	p.D630E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14			42	all_hematologic(923;0.032)				GCTGGCATGAGTCAGTCAGTT	0.483000																								0							SO:0001583	missense			ENST00000369219.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.08|10.08	1.253160|1.253160	0.22965|0.22965	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000434489|ENST00000310701	T|.	0.08102|.	3.13|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.36331|0.36331	0.0963|0.0963	M|M	0.76002|0.76002	2.32|2.32	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29852|0.29852	-0.9998|-0.9998	4|2	0.27785|.	T|.	0.31|.	.|.	.|.	.|.	.|.	.|.	630|.	Q5TI25|.	NBPFE_HUMAN|.	E|N	630;220|636	ENSP00000358221:D630E|.	ENSP00000358221:D630E|.	D|T	-|-	3|2	2|0	NBPF14|NBPF14	146476041|146476041	0.929000|0.929000	0.31497|0.31497	.|.	.|.	.|.	.|.	0.748000|0.748000	0.26305|0.26305	.|.	.|.	.|.	.|.	GAC|ACT		TCGA-IB-7651-01A-11D-2154-08	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	25	1567	1	402	0	2.207180e-01	1	53	1	402	2		0	0	0	0	0	2	1	9.930095e-01	22	1302	1	679	9								-7.052600	1	1	0	0		1	1	2	3	2.178528	1	0.170000	2.060000	2.350230e-01	0.200000	0.120000	0.290000	0.210000	0.207776	0.200000	0	1.600000e-01	2.500000e-01
FCGR1A	2209	broad.mit.edu	37	1	149759933	149759933	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149759933C>A	ENST00000369168.4	+	4	373	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)			10	Breast(34;0.0124)|all_hematologic(923;0.127)			Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGGCTACTACTGCAGGTCTC	0.483000																								0							SO:0001583	missense			ENST00000369168.4	1	1	hg19	CCDS933.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827463	0.32329	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.21361	2.01;2.01	4.1	3.18	0.36537	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000256	T	0.39091	0.1065	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44097	-0.9350	10	0.87932	D	0	.	8.4097	0.32636	0.0:0.8849:0.0:0.1151	.	107	P12314	FCGR1_HUMAN	M	15;107	ENSP00000394279:L15M;ENSP00000358165:L107M	ENSP00000358165:L107M	L	+	1	2	FCGR1A	148026557	0.994000	0.37717	0.851000	0.33527	0.208000	0.24298	3.516000	0.53436	1.015000	0.39444	0.514000	0.50259	CTG		TCGA-IB-7651-01A-11D-2154-08	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	0	0	0	43	507	0	113	0	9.950383e-01	0	97	0	113	2		0	0	0	0	0	2	1	1	41	488	0	146	2								-11.331990	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.730000	1.000000	1.000000	0.947366	0.990000	1	8.600000e-01	1
BOLA1	51027	broad.mit.edu	37	1	149871987	149871987	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149871987A>G	ENST00000369153.2	+	3	1039	c.375A>G	c.(373-375)ccA>ccG	p.P125P	BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.P125P			Q9Y3E2	BOLA1_HUMAN	bolA family member 1			10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		CTAGCCCCCCATGCCTGGGTG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000369153.2	1	1	hg19	CCDS939.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	1	0	1	72	235	0	79	1	1	56	76	0	79	2		0	0	0	0	0	2	1	1	72	230	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR11	10903	broad.mit.edu	37	1	149906095	149906095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149906095G>A	ENST00000439741.2	-	7	922	c.672C>T	c.(670-672)gaC>gaT	p.D224D	MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.D224D|MTMR11_ENST00000369140.3_Silent_p.D152D	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11			34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		TGGTGGCTACGTCGAACCTCT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000439741.2	1	1	hg19	CCDS53360.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	120	542	0	92	1	1	40	90	0	92	2		0	0	0	0	0	2	1	1	117	531	0	89	2								-20.000000	1	1	121412	2	34	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTUD7B	56957	broad.mit.edu	37	1	149916165	149916165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149916165C>T	ENST00000369135.4	-	12	2417	c.2123G>A	c.(2122-2124)tGc>tAc	p.C708Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B			39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		GGGTTCCTGGCAGTGGACTCC	0.662000																								0							SO:0001583	missense			ENST00000369135.4	1	1	hg19	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.486588	0.01018	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.28069	1.63	4.35	2.4	0.29515	.	0.653611	0.16589	N	0.207856	T	0.03011	0.0089	N	0.03608	-0.345	0.29048	N	0.884704	B	0.02656	0.0	B	0.01281	0.0	T	0.43310	-0.9399	9	.	.	.	-4.9849	3.2711	0.06882	0.1875:0.5359:0.0:0.2766	.	708	Q6GQQ9	OTU7B_HUMAN	Y	708	ENSP00000358131:C708Y	.	C	-	2	0	OTUD7B	148182789	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	1.522000	0.35921	0.438000	0.26450	0.450000	0.29827	TGC		TCGA-IB-7651-01A-11D-2154-08	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	1	0	1	95	306	0	63	1	9.999997e-01	22	50	0	63	2		0	0	0	0	0	2	1	1	93	303	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTUD7B	56957	broad.mit.edu	37	1	149937711	149937711	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149937711C>A	ENST00000369135.4	-	5	889	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B			39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		CCAAGGGAGGCTGCATGCAGG	0.507000																								0							SO:0001583	missense			ENST00000369135.4	1	0	hg19	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875619	0.91664	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32988	1.43;1.43	5.09	5.09	0.68999	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.988	T	0.53215	-0.8470	9	.	.	.	-28.019	17.6655	0.88202	0.0:1.0:0.0:0.0	.	199;199	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	S	199	ENSP00000358131:A199S;ENSP00000408231:A199S	.	A	-	1	0	OTUD7B	148204335	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	7.286000	0.78671	2.653000	0.90120	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	1	0	1	22	114	0	34	1	9.977402e-01	14	40	0	34	2		0	0	0	0	0	2	1	9.999993e-01	21	114	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
OTUD7B	56957	broad.mit.edu	37	1	149939346	149939346	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939346C>A	ENST00000369135.4	-	4	669	c.375G>T	c.(373-375)gaG>gaT	p.E125D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B			39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		CCAGGGGGTGCTCATTGCTCC	0.557000																								0							SO:0001583	missense			ENST00000369135.4	1	1	hg19	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886581	0.72410	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32753	1.44;1.48	5.14	4.21	0.49690	.	0.395933	0.29165	N	0.012952	T	0.20251	0.0487	L	0.51422	1.61	0.53005	D	0.999968	P	0.38992	0.653	B	0.41764	0.366	T	0.01516	-1.1335	9	.	.	.	-11.7346	13.3302	0.60483	0.0:0.922:0.0:0.078	.	125	Q6GQQ9	OTU7B_HUMAN	D	125	ENSP00000358131:E125D;ENSP00000408231:E125D	.	E	-	3	2	OTUD7B	148205970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.341000	0.33907	2.672000	0.90937	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	1	0	1	63	295	0	74	1	9.992911e-01	8	45	0	74	2		0	0	0	0	0	2	1	1	62	290	0	72	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTUD7B	56957	broad.mit.edu	37	1	149939428	149939428	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939428C>T	ENST00000369135.4	-	4	587	c.293G>A	c.(292-294)gGc>gAc	p.G98D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B			39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		GTGGGAGATGCCCCTAGACAG	0.552000																								0							SO:0001583	missense			ENST00000369135.4	1	1	hg19	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282575	0.80692	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.39997	1.05;1.26	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56232	-0.8013	9	.	.	.	-35.5759	13.1151	0.59295	0.0:0.9234:0.0:0.0766	.	98	Q6GQQ9	OTU7B_HUMAN	D	98	ENSP00000358131:G98D;ENSP00000408231:G98D	.	G	-	2	0	OTUD7B	148206052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	1.454000	0.47793	0.557000	0.71058	GGC		TCGA-IB-7651-01A-11D-2154-08	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	1	0	1	52	255	0	62	1	9.946884e-01	7	35	0	62	2		0	0	0	0	0	2	1	1	52	250	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APH1A	51107	broad.mit.edu	37	1	150240131	150240131	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240131G>A	ENST00000369109.3	-	3	531	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.R115C	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit			9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		GCCATCTGGCGGATGGAGATG	0.582000																								0							SO:0001583	missense			ENST00000369109.3	0	1	hg19	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113317	0.77210	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.48522	0.81;0.81;0.81	4.98	4.98	0.66077	.	0.139815	0.49916	D	0.000132	T	0.61677	0.2366	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;D;D	0.65874	0.81;0.857;0.912;0.939	T	0.62120	-0.6921	10	0.40728	T	0.16	-4.3304	15.7896	0.78343	0.0:0.0:1.0:0.0	.	58;115;115;115	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	C	115;115;58	ENSP00000358105:R115C;ENSP00000353380:R115C;ENSP00000236017:R58C	ENSP00000236017:R58C	R	-	1	0	APH1A	148506755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.833000	0.69349	2.583000	0.87209	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	1	0	1	16	82	0	11	1	1	320	690	0	11	2		0	0	0	0	0	2	1	9.999476e-01	15	80	0	10	2								-3.242741	1	0	120888	4	37	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999797	0.990000	1	9.900000e-01	1
APH1A	51107	broad.mit.edu	37	1	150240145	150240145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240145G>A	ENST00000369109.3	-	3	517	c.329C>T	c.(328-330)tCa>tTa	p.S110L	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.S110L	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit			9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		GGAGATGGGTGATCTTCCGTC	0.592000																								0							SO:0001583	missense			ENST00000369109.3	0	1	hg19	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949348	0.34377	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.43294	0.95;0.95;0.95	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.26011	0.0634	L	0.46614	1.455	0.80722	D	1	B;B;B;P	0.38223	0.12;0.08;0.098;0.623	B;B;B;B	0.37833	0.048;0.104;0.166;0.259	T	0.04153	-1.0973	10	0.31617	T	0.26	-3.7325	15.7896	0.78343	0.0:0.0:1.0:0.0	.	53;110;110;110	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	L	110;110;53	ENSP00000358105:S110L;ENSP00000353380:S110L;ENSP00000236017:S53L	ENSP00000236017:S53L	S	-	2	0	APH1A	148506769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.673000	0.74482	2.583000	0.87209	0.491000	0.48974	TCA		TCGA-IB-7651-01A-11D-2154-08	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	1	0	1	14	84	0	10	1	1	311	688	0	10	2		0	0	0	0	0	2	1	9.998036e-01	14	82	0	10	2								-19.999710	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998678	0.990000	1	9.900000e-01	1
C1orf51	0	broad.mit.edu	37	1	150255695	150255695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150255695C>T	ENST00000290363.5	+	1	467	c.18C>T	c.(16-18)agC>agT	p.S6S	C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Silent_p.S6S	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN				10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		CTCCATCTAGCGTTTCTTCCT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000290363.5	1	1	hg19	CCDS949.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1	1	0	0	302	899	0	181	0	0	1	0	0	181	2		0	0	0	0	0	2	1	1	297	883	0	180	2								-8.497393	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPS21	54460	broad.mit.edu	37	1	150280587	150280587	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150280587C>A	ENST00000369084.5	+	2	636	c.189C>A	c.(187-189)atC>atA	p.I63I	MRPS21_ENST00000309092.7_Silent_p.I63I	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21			4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		GCCGGCGGATCTACAACATGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000369084.5	1	1	hg19	CCDS950.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035813.1	0	0	0	12	352	0	70	1	9.999994e-01	45	891	0	70	2		0	0	0	0	0	2	1	9.990126e-01	12	344	0	66	2								-12.306990	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.430000	0.230000	0.700000	0.420000	0.449336	0.430000	0	3.200000e-01	5.700000e-01
PRPF3	9129	broad.mit.edu	37	1	150298269	150298269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150298269C>T	ENST00000324862.6	+	3	371	c.206C>T	c.(205-207)gCt>gTt	p.A69V	PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3			21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		CTGTTTGAGGCTGTGGAGGAA	0.458000													Ovarian(168;1070 2670 5178 20729)											0							SO:0001583	missense			ENST00000324862.6	1	1	hg19	CCDS951.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243685	0.22796	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.39592	1.07;1.07	5.57	4.65	0.58169	Splicing factor PWI (4);	0.047154	0.85682	D	0.000000	T	0.13030	0.0316	N	0.16478	0.41	0.80722	D	1	B;B;B	0.25772	0.043;0.134;0.134	B;B;B	0.20577	0.022;0.03;0.03	T	0.05084	-1.0907	10	0.14656	T	0.56	-8.71	14.2142	0.65783	0.0:0.9282:0.0:0.0718	.	69;69;69	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	V	69	ENSP00000315379:A69V;ENSP00000387844:A69V	ENSP00000315379:A69V	A	+	2	0	PRPF3	148564893	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.758000	0.68776	2.785000	0.95823	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	1	0	1	147	763	0	181	1	9.995851e-01	10	50	0	181	2		0	0	0	0	0	2	1	1	145	749	0	178	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPF3	9129	broad.mit.edu	37	1	150307598	150307598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150307598C>T	ENST00000324862.6	+	7	1086	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PRPF3_ENST00000414970.2_Silent_p.S258S|PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3			21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		ACATGGAATCCAATACCTTTT	0.463000													Ovarian(168;1070 2670 5178 20729)											0							SO:0001819	synonymous_variant			ENST00000324862.6	1	1	hg19	CCDS951.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	1	0	0	19	249	0	51	1	9.800190e-01	6	80	0	51	2		0	0	0	0	0	2	1	9.999895e-01	18	242	0	51	2								-3.221977	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.910000	0.570000	1.000000	1.000000	0.881307	0.910000	1	7.200000e-01	1
PRPF3	9129	broad.mit.edu	37	1	150312898	150312898	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150312898A>C	ENST00000324862.6	+	9	1392	c.1227A>C	c.(1225-1227)gaA>gaC	p.E409D	PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D|PRPF3_ENST00000543398.1_Silent_p.R273R|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3			21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		CCAAGAGAGAAGATTATTTTG	0.388000													Ovarian(168;1070 2670 5178 20729)											0							SO:0001583	missense			ENST00000324862.6	1	1	hg19	CCDS951.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.411230	0.25465	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	D;D	0.85411	-1.98;-1.98	5.67	3.4	0.38934	Pre-mRNA-splicing factor 3 (1);	0.097540	0.64402	D	0.000001	T	0.62024	0.2394	L	0.34521	1.04	0.80722	D	1	B;B	0.15719	0.014;0.005	B;B	0.20184	0.028;0.016	T	0.61628	-0.7024	10	0.30078	T	0.28	-16.2751	5.3519	0.16040	0.7292:0.0:0.1264:0.1444	.	360;409	E7EVD1;O43395	.;PRPF3_HUMAN	D	409;360	ENSP00000315379:E409D;ENSP00000387844:E360D	ENSP00000315379:E409D	E	+	3	2	PRPF3	148579522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.714000	0.25808	2.164000	0.68074	0.454000	0.30748	GAA		TCGA-IB-7651-01A-11D-2154-08	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	1	0	1	44	249	0	48	1	9.999672e-01	19	71	0	48	2		0	0	0	0	0	2	1	1	44	245	0	48	2								-19.986800	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TARS2	80222	broad.mit.edu	37	1	150470161	150470161	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150470161C>T	ENST00000369064.3	+	10	1210	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	TARS2_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000606933.1_Silent_p.D310D|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)			35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)	L-Threonine(DB00156)	CCCAGAGTGACGATTCTACCA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000369064.3	0	1	hg19	CCDS952.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	0	0	0	6	189	0	44	1	8.574499e-01	8	106	0	44	2		0	0	0	0	0	2	1	9.634104e-01	6	186	0	43	2								-8.020202	1	1	121412	2	34	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.410000	0.170000	0.790000	0.390000	0.445692	0.410000	0	2.700000e-01	6.000000e-01
ECM1	1893	broad.mit.edu	37	1	150483559	150483559	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150483559C>A	ENST00000369047.4	+	6	718	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y|ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1			22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		CTACCACAGTCCAGCTACTCC	0.572000													Melanoma(156;1696 2560 11093 19685)											0							SO:0001583	missense			ENST00000369047.4	1	1	hg19	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672578	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.77098	-1.07;-1.07;-1.07	5.04	5.04	0.67666	.	0.632800	0.15972	N	0.235704	T	0.81697	0.4877	L	0.53249	1.67	0.38322	D	0.943551	D;D;D;D;D;D	0.71674	0.995;0.998;0.991;0.998;0.993;0.998	D;D;P;D;P;D	0.68483	0.913;0.914;0.904;0.958;0.827;0.958	T	0.83003	-0.0176	10	0.87932	D	0	-4.0979	13.7487	0.62894	0.0:1.0:0.0:0.0	.	120;127;225;198;198;198	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	Y	225;198;198	ENSP00000358045:S225Y;ENSP00000358043:S198Y;ENSP00000271630:S198Y	ENSP00000271630:S198Y	S	+	2	0	ECM1	148750183	0.992000	0.36948	0.997000	0.53966	0.958000	0.62258	2.324000	0.43831	2.640000	0.89533	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	1	0	0	87	1276	0	239	1	9.999997e-01	23	278	0	239	2		0	0	0	0	0	2	1	1	83	1256	0	236	2								-13.171100	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.810000	0.650000	0.980000	0.810000	0.820147	0.810000	0	7.300000e-01	9.000000e-01
ECM1	1893	broad.mit.edu	37	1	150485713	150485713	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150485713A>C	ENST00000369047.4	+	10	1518	c.1393A>C	c.(1393-1395)Aaa>Caa	p.K465Q	ECM1_ENST00000346569.6_Splice_Site_p.K340Q|ECM1_ENST00000369049.4_Splice_Site_p.K492Q|ECM1_ENST00000470432.1_3'UTR|LINC00568_ENST00000416894.1_lincRNA	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1			22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		CATTCATCAGAAATTAACCTT	0.493000													Melanoma(156;1696 2560 11093 19685)											0							SO:0001630	splice_region_variant			ENST00000369047.4	1	0	hg19	CCDS953.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674109	0.67928	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.80653	-1.4;-1.4;-1.4	4.85	4.85	0.62838	.	0.464588	0.22030	N	0.065614	T	0.81148	0.4762	L	0.56769	1.78	0.32759	N	0.505366	D;D;D	0.71674	0.994;0.998;0.987	P;D;P	0.65987	0.869;0.94;0.783	T	0.80763	-0.1237	9	.	.	.	-7.8259	10.7452	0.46177	1.0:0.0:0.0:0.0	.	492;340;465	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	Q	492;465;340	ENSP00000358045:K492Q;ENSP00000358043:K465Q;ENSP00000271630:K340Q	.	K	+	1	0	ECM1	148752337	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	3.947000	0.56652	2.026000	0.59711	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	1	0	1	104	274	0	83	1	1	77	294	0	83	2		0	0	0	0	0	2	1	1	101	268	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTSL4	54507	broad.mit.edu	37	1	150525688	150525688	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525688C>T	ENST00000369038.2	+	3	594	c.393C>T	c.(391-393)caC>caT	p.H131H	ADAMTSL4_ENST00000369039.5_Silent_p.H131H|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.H131H|ADAMTSL4_ENST00000369041.5_Silent_p.H131H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4			32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		CCGCTTCCCACCTAGGGAGAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000369038.2	1	1	hg19	CCDS955.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	1	0	1	57	328	0	52	1	9.906099e-01	5	39	0	52	2		0	0	0	0	0	2	1	1	57	321	0	52	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTSL4	54507	broad.mit.edu	37	1	150525719	150525719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525719G>T	ENST00000369038.2	+	3	625	c.424G>T	c.(424-426)Gcg>Tcg	p.A142S	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A142S|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S			Q6UY14	ATL4_HUMAN	ADAMTS-like 4			32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		GGAGATTCGAGCGGCCAGGAG	0.632000																								0							SO:0001583	missense			ENST00000369038.2	0	1	hg19	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057628	0.19907	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.61510	0.2;0.1;0.39;0.1	4.24	3.3	0.37823	.	.	.	.	.	T	0.16685	0.0401	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.19200	0.006;0.013;0.018;0.034	B;B;B;B	0.24394	0.008;0.037;0.01;0.053	T	0.18116	-1.0347	9	0.54805	T	0.06	.	8.3419	0.32249	0.1165:0.0:0.8835:0.0	.	142;142;142;142	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	S	142	ENSP00000358037:A142S;ENSP00000271643:A142S;ENSP00000358035:A142S;ENSP00000358034:A142S	ENSP00000271643:A142S	A	+	1	0	ADAMTSL4	148792343	0.013000	0.17824	0.022000	0.16811	0.095000	0.18619	1.985000	0.40668	1.911000	0.55334	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	0	0	0	15	258	0	35	0	7.324338e-01	1	45	0	35	2		0	0	0	0	0	2	1	9.998549e-01	15	250	0	34	2								-18.153360	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.710000	0.410000	1.000000	1.000000	0.726049	0.710000	0	5.500000e-01	9.000000e-01
ADAMTSL4	54507	broad.mit.edu	37	1	150525729	150525729	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525729G>T	ENST00000369038.2	+	3	635	c.434G>T	c.(433-435)aGg>aTg	p.R145M	ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145M|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Splice_Site_p.R145M|ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145M			Q6UY14	ATL4_HUMAN	ADAMTS-like 4			32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		GCGGCCAGGAGGTGAGAGGCC	0.632000																								0							SO:0001630	splice_region_variant			ENST00000369038.2	1	0	hg19	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714946	0.68844	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.72167	-0.58;-0.63;-0.37;-0.63	4.46	4.46	0.54185	.	.	.	.	.	T	0.76499	0.3996	M	0.63843	1.955	0.39085	D	0.960988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.996;0.999	T	0.79869	-0.1621	9	0.66056	D	0.02	.	12.603	0.56506	0.0:0.0:1.0:0.0	.	145;145;145;145	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	M	145	ENSP00000358037:R145M;ENSP00000271643:R145M;ENSP00000358035:R145M;ENSP00000358034:R145M	ENSP00000271643:R145M	R	+	2	0	ADAMTSL4	148792353	1.000000	0.71417	0.999000	0.59377	0.679000	0.39708	4.520000	0.60524	2.029000	0.59856	0.561000	0.74099	AGG		TCGA-IB-7651-01A-11D-2154-08	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	1	0	1	33	228	0	37	1	9.737360e-01	5	38	0	37	2		0	0	0	0	0	2	1	1	33	220	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999813	0.990000	1	9.900000e-01	1
ADAMTSL4	54507	broad.mit.edu	37	1	150532376	150532376	+	Missense_Mutation	SNP	G	G	A	rs56411234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150532376G>A	ENST00000369038.2	+	16	3284	c.3083G>A	c.(3082-3084)cGc>cAc	p.R1028H	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R1051H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R1028H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4			32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		TGCAGCCAGCGCCCTGGTAAA	0.607000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000369038.2	1	0	hg19	CCDS955.1	28	0.01282051282051282	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	24	0.0316622691292876	G	13.16	2.155577	0.38021	0.00749	0.029767	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.63255	-0.03;0.26;-0.03	5.5	3.24	0.37175	.	.	.	.	.	T	0.27798	0.0684	N	0.20986	0.625	0.32838	D	0.505026	B;B;B	0.16603	0.018;0.012;0.014	B;B;B	0.15484	0.005;0.013;0.003	T	0.07966	-1.0745	9	0.38643	T	0.18	.	9.6429	0.39850	0.0912:0.1498:0.759:0.0	rs56411234	989;1051;1028	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	H	1028;1051;1028	ENSP00000271643:R1028H;ENSP00000358035:R1051H;ENSP00000358034:R1028H	ENSP00000271643:R1028H	R	+	2	0	ADAMTSL4	148799000	.	.	1.000000	0.80357	0.993000	0.82548	.	.	1.288000	0.44600	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	0	0	1	128	633	0	121	1	9.999995e-01	13	87	0	121	2		0	0	0	0	0	2	1	1	124	620	0	120	2								-2.890259	1	1	121412	1880	66	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCL1	4170	broad.mit.edu	37	1	150551721	150551721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150551721G>A	ENST00000369026.2	-	1	345	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	MCL1_ENST00000307940.3_Silent_p.L96L|MCL1_ENST00000464132.1_5'Flank	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1			8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		AAGAAAAGCAGCCTCGCGGGG	0.741000																								0							SO:0001819	synonymous_variant			ENST00000369026.2	1	1	hg19	CCDS957.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	1	0	0	19	63	0	21	1	9.813805e-01	9	16	0	21	2		0	0	0	0	0	2	1	9.999953e-01	19	61	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ENSA	2029	broad.mit.edu	37	1	150598174	150598174	+	Silent	SNP	G	G	A	rs141017549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150598174G>A	ENST00000369014.5	-	3	419	c.294C>T	c.(292-294)ccC>ccT	p.P98P	ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000513281.1_Silent_p.P94P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000369016.4_Silent_p.P114P|ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000271690.8_Silent_p.P98P|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361532.5_Silent_p.P94P			O43768	ENSA_HUMAN	endosulfine alpha			4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)		CCTGTGGGGTGGGGATGTGAT	0.567000													Esophageal Squamous(188;763 2078 3002 3411 26027)											0							SO:0001819	synonymous_variant			ENST00000369014.5	1	1	hg19	CCDS958.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ENSA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084720.2	0	0	0	10	296	0	50	1	9.999998e-01	51	1143	0	50	2		0	0	0	0	0	2	1	9.965773e-01	10	288	0	49	2								-3.142702	1	1	121412	26	47	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.430000	0.220000	0.720000	0.420000	0.451011	0.430000	0	3.100000e-01	5.800000e-01
GOLPH3L	55204	broad.mit.edu	37	1	150620874	150620874	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150620874C>T	ENST00000271732.3	-	5	825	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like			8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		ACTTCAGGGTCCAGTTCTACT	0.488000																								0							SO:0001583	missense			ENST00000271732.3	1	1	hg19	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851878	0.71719	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514	.	.	.	5.44	4.49	0.54785	.	0.054669	0.64402	D	0.000001	T	0.60612	0.2282	M	0.91768	3.24	0.52501	D	0.999956	P;B	0.38729	0.644;0.002	B;B	0.40444	0.329;0.001	T	0.69461	-0.5139	9	0.54805	T	0.06	-15.6672	8.8888	0.35420	0.1512:0.7702:0.0:0.0786	.	217;261	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	N	261;283;217	.	ENSP00000271732:D261N	D	-	1	0	GOLPH3L	148887498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.454000	0.60068	2.832000	0.97577	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	1	0	1	117	365	0	79	1	1	99	134	0	79	2		0	0	0	0	0	2	1	1	115	361	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTSS	1520	broad.mit.edu	37	1	150720331	150720331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150720331G>A	ENST00000368985.3	-	7	1078	c.818C>T	c.(817-819)aCt>aTt	p.T273I	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.T223I	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S			15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		CACATTCTGAGTACAGGATGG	0.343000																								0							SO:0001583	missense			ENST00000368985.3	1	1	hg19	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341288	0.41498	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.87412	-2.25;1.91	5.4	4.42	0.53409	Peptidase C1A, papain C-terminal (2);	0.269717	0.41605	D	0.000842	D	0.86029	0.5835	N	0.26130	0.795	0.41652	D	0.989139	D;P	0.67145	0.996;0.883	D;P	0.70935	0.971;0.738	D	0.88321	0.2962	10	0.87932	D	0	.	13.6284	0.62181	0.0:0.0:0.8444:0.1556	.	223;273	B4DWC9;P25774	.;CATS_HUMAN	I	223;273	ENSP00000408414:T223I;ENSP00000357981:T273I	ENSP00000357981:T273I	T	-	2	0	CTSS	148986955	0.920000	0.31207	0.940000	0.37924	0.066000	0.16364	1.569000	0.36428	2.521000	0.84997	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	1	0	1	99	457	0	100	1	1	193	1850	0	100	2		0	0	0	0	0	2	1	1	99	452	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTSS	1520	broad.mit.edu	37	1	150724344	150724344	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150724344G>A	ENST00000368985.3	-	5	800	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.C130C	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S			15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		AGCCACCATTGCAGCCTTTGT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000368985.3	1	1	hg19	CCDS968.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	1	0	0	109	579	0	90	1	1	234	2048	0	90	2		0	0	0	0	0	2	1	1	105	563	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANXA9	8416	broad.mit.edu	37	1	150957102	150957102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150957102C>T	ENST00000368947.4	+	7	898	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9			8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		GAAATTCTTGCCACTCGAACC	0.537000																								0							SO:0001583	missense			ENST00000368947.4	0	1	hg19	CCDS975.2	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803796	0.70682	.	.	ENSG00000143412	ENST00000368947	T	0.03386	3.95	5.44	5.44	0.79542	.	0.279248	0.30930	N	0.008584	T	0.04182	0.0116	L	0.41124	1.26	0.39600	D	0.969713	P	0.47484	0.896	P	0.50754	0.649	T	0.46247	-0.9205	10	0.52906	T	0.07	.	15.1077	0.72334	0.0:1.0:0.0:0.0	.	141	O76027	ANXA9_HUMAN	V	141	ENSP00000357943:A141V	ENSP00000357943:A141V	A	+	2	0	ANXA9	149223726	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.899000	0.56288	2.700000	0.92200	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	0	0	0	6	177	0	55	1	5.195897e-01	4	44	0	55	2		0	0	0	0	0	2	1	9.633056e-01	6	173	0	55	2								-2.902964	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.440000	0.180000	0.840000	0.420000	0.473742	0.440000	0	2.900000e-01	6.400000e-01
C1orf56	54964	broad.mit.edu	37	1	151021076	151021076	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151021076A>G	ENST00000368926.5	+	1	861	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	p.Q251Q(1)		7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		GCACCTATCAACAATGTCCCT	0.617000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GBM(146;891 3320 6873)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000368926.5	1	1	hg19	CCDS980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	1	0	1	310	907	0	216	1	9.533009e-01	4	13	0	216	2		0	0	0	0	0	2	1	1	307	884	0	214	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA6C	10500	broad.mit.edu	37	1	151105814	151105814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151105814G>A	ENST00000341697.3	-	19	3630	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C			28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		GAGAGAGGGCGCGGGAGCCCC	0.721000																								0							SO:0001583	missense			ENST00000341697.3	1	1	hg19	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933014	0.73442	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	3.89	3.89	0.44902	.	1.906560	0.02651	N	0.106464	T	0.63343	0.2503	N	0.21282	0.65	0.45108	D	0.998121	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.94;0.988	T	0.59941	-0.7359	10	0.49607	T	0.09	.	8.7857	0.34818	0.0:0.0:0.7751:0.2249	.	639;679;647	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	C	647;639;679;647	ENSP00000357910:R647C;ENSP00000357908:R639C;ENSP00000357909:R679C;ENSP00000344148:R647C	ENSP00000344148:R647C	R	-	1	0	SEMA6C	149372438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.046000	0.57376	1.999000	0.58509	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	1	0	0	23	73	0	16	0	2.512134e-01	1	3	0	16	2		0	0	0	0	0	2	1	9.999998e-01	23	72	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA6C	10500	broad.mit.edu	37	1	151115025	151115025	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151115025C>T	ENST00000341697.3	-	3	1764	c.73G>A	c.(73-75)Gcc>Acc	p.A25T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C			28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		TGGGGAAAGGCGGCCTGAGTA	0.607000																								0							SO:0001583	missense			ENST00000341697.3	1	1	hg19	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136424	0.21123	2.27E-4	0.0	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.18657	2.2;2.42;2.23;2.2	4.69	0.448	0.16614	.	0.900793	0.09727	N	0.763666	T	0.02848	0.0085	N	0.12182	0.205	0.20074	N	0.999937	B;B;B;B	0.31817	0.011;0.341;0.076;0.066	B;B;B;B	0.19148	0.006;0.024;0.021;0.01	T	0.40553	-0.9557	10	0.40728	T	0.16	.	6.1663	0.20392	0.0:0.5412:0.0:0.4588	.	25;25;25;25	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	T	25	ENSP00000357910:A25T;ENSP00000357908:A25T;ENSP00000357909:A25T;ENSP00000344148:A25T	ENSP00000344148:A25T	A	-	1	0	SEMA6C	149381649	0.057000	0.20700	0.453000	0.27007	0.785000	0.44390	0.048000	0.14078	0.231000	0.21079	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	1	0	0	38	169	0	35	0	7.196559e-01	1	12	0	35	2		0	0	0	0	0	2	1	1	37	167	0	35	2								-3.473616	1	1	121368	4	35	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF687	57592	broad.mit.edu	37	1	151259046	151259046	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151259046G>T	ENST00000368879.2	+	2	377	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687			32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		TGTGTCCCGAGCAGTCTGAGG	0.602000																								0							SO:0001583	missense			ENST00000368879.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.01	1.810743	0.32053	.	.	ENSG00000143373	ENST00000443959;ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.01119	5.31;5.31;5.63	4.32	1.17	0.20885	.	0.000000	0.35585	N	0.003114	T	0.00754	0.0025	L	0.39898	1.24	0.30252	N	0.794028	D;D;D	0.61697	0.99;0.984;0.99	D;D;D	0.73380	0.98;0.956;0.98	T	0.42085	-0.9472	10	0.07644	T	0.81	.	4.2579	0.10726	0.3087:0.0:0.5254:0.1658	.	93;93;93	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	D	102;93;93;93	ENSP00000336620:E93D;ENSP00000319829:E93D;ENSP00000357874:E93D	ENSP00000319829:E93D	E	+	3	2	ZNF687	149525670	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	2.986000	0.49370	0.476000	0.27440	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	64	360	0	68	1	9.999162e-01	12	67	0	68	2		0	0	0	0	0	2	1	1	61	352	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFX5	5993	broad.mit.edu	37	1	151316355	151316355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151316355C>A	ENST00000290524.4	-	9	737	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*|RP11-126K1.8_ENST00000422153.1_RNA	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)			20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		GGGCCCATTTCTGGCTGAAGT	0.532000																								0							SO:0001587	stop_gained			ENST00000290524.4	0	1	hg19	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406966	0.97542	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	.	.	.	5.81	4.89	0.63831	.	0.258141	0.36972	N	0.002303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.5308	15.0322	0.71717	0.1434:0.8566:0.0:0.0	.	.	.	.	X	187;187;79;187;147;187;187	.	ENSP00000290524:E187X	E	-	1	0	RFX5	149582979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.499000	0.73683	1.446000	0.47643	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	1	0	0	77	234	0	33	1	1	7	106	0	33	2		0	0	0	0	0	2	1	1	75	231	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POGZ	23126	broad.mit.edu	37	1	151377699	151377699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377699G>A	ENST00000271715.2	-	19	4126	c.3812C>T	c.(3811-3813)aCt>aTt	p.T1271I	POGZ_ENST00000540984.1_Missense_Mutation_p.T633I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain			47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		GTTCTTGACAGTTCTTTTGAT	0.478000																								0							SO:0001583	missense			ENST00000271715.2	1	1	hg19	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848517	0.51164	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.08	6.08	0.98989	.	0.075082	0.56097	D	0.000031	T	0.34077	0.0885	N	0.08118	0	0.32220	N	0.575412	P;P;D;D;B;P	0.67145	0.481;0.481;0.996;0.996;0.426;0.481	B;B;D;D;B;B	0.64144	0.22;0.22;0.922;0.922;0.14;0.22	T	0.39522	-0.9610	10	0.49607	T	0.09	-17.7954	19.2359	0.93858	0.0:0.0:1.0:0.0	.	1209;1262;1176;1227;1218;1271	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	I	1218;1271;1218;1176;1262;1209;633;1227	ENSP00000376484:T1218I;ENSP00000271715:T1271I;ENSP00000354467:T1218I;ENSP00000357856:T1176I;ENSP00000386836:T1262I;ENSP00000431259:T1209I;ENSP00000443547:T633I;ENSP00000418408:T1227I	ENSP00000271715:T1271I	T	-	2	0	POGZ	149644323	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.115000	0.64655	2.894000	0.99253	0.591000	0.81541	ACT		TCGA-IB-7651-01A-11D-2154-08	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	1	0	1	202	1018	0	220	1	9.999988e-01	26	69	0	220	2		0	0	0	0	0	2	1	1	200	1003	0	219	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POGZ	23126	broad.mit.edu	37	1	151377824	151377824	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377824G>T	ENST00000271715.2	-	19	4001	c.3687C>A	c.(3685-3687)gaC>gaA	p.D1229E	POGZ_ENST00000540984.1_Missense_Mutation_p.D591E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain			47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		TGCGATGACAGTCCATCACAA	0.532000																								0							SO:0001583	missense			ENST00000271715.2	1	1	hg19	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332214	0.60853	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.72228	0.3434	M	0.66297	2.02	0.45005	D	0.998021	D;D;D;D;D;D	0.76494	0.999;0.999;0.996;0.996;0.99;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.987;0.987;0.98;0.997	T	0.74777	-0.3550	10	0.87932	D	0	-22.2533	13.2928	0.60280	0.0761:0.0:0.9239:0.0	.	1167;1220;1134;1185;1176;1229	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	E	1176;1229;1176;1134;1220;1167;591;1185	ENSP00000376484:D1176E;ENSP00000271715:D1229E;ENSP00000354467:D1176E;ENSP00000357856:D1134E;ENSP00000386836:D1220E;ENSP00000431259:D1167E;ENSP00000443547:D591E;ENSP00000418408:D1185E	ENSP00000271715:D1229E	D	-	3	2	POGZ	149644448	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.439000	0.52878	2.838000	0.97847	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	0	0	0	13	480	0	107	1	7.734633e-01	3	103	0	107	2		0	0	0	0	0	2	1	9.994918e-01	12	474	0	106	2								-11.442590	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.340000	0.190000	0.550000	0.330000	0.358640	0.340000	0	2.500000e-01	4.500000e-01
CGN	57530	broad.mit.edu	37	1	151493070	151493070	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151493070A>G	ENST00000271636.7	+	5	1177		c.e5-1			NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin			45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)		TATCTCTGGCAGATGGTTTCT	0.552000																								0							SO:0001630	splice_region_variant			ENST00000271636.7	1	1	hg19	CCDS999.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146167	0.37923	.	.	ENSG00000143375	ENST00000271636	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4399	0.16501	0.7356:0.1773:0.0871:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CGN	149759694	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	5.192000	0.65115	2.192000	0.70111	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	1	0	1	43	124	0	36	1	3.887577e-01	4	1	0	36	2		0	0	0	0	0	2	1	1	40	117	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CGN	57530	broad.mit.edu	37	1	151497153	151497153	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151497153C>T	ENST00000271636.7	+	8	1538	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin			45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)		TCTCCAGGACCTGTTAGAGAC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000271636.7	1	1	hg19	CCDS999.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	1	0	1	25	100	0	24	1	9.999963e-01	35	54	0	24	2		0	0	0	0	0	2	1	9.999999e-01	25	99	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TDRKH	11022	broad.mit.edu	37	1	151751711	151751711	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151751711G>A	ENST00000368822.1	-	5	1062	c.429C>T	c.(427-429)ggC>ggT	p.G143G	TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000458431.2_Silent_p.G143G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000368824.3_Silent_p.G143G|TDRKH_ENST00000368827.6_Silent_p.G143G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing			26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		TTGTCTCGCCGCCTCTCCCTA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000368822.1	1	1	hg19	CCDS41394.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	0	0	1	60	327	0	56	1	9.979449e-01	11	42	0	56	2		0	0	0	0	0	2	1	1	59	316	0	56	2								-2.671302	1	1	120810	2	29	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LINGO4	339398	broad.mit.edu	37	1	151773422	151773422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773422G>A	ENST00000368820.3	-	2	2696	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4			21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		GCAGTGACCCGGTTACCCCCA	0.542000																								0							SO:0001583	missense			ENST00000368820.3	1	1	hg19	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186448	0.57909	.	.	ENSG00000213171	ENST00000368820	T	0.60797	0.16	5.32	3.37	0.38596	.	0.000000	0.43260	D	0.000596	T	0.56863	0.2014	L	0.46157	1.445	0.40508	D	0.980719	D	0.89917	1.0	D	0.69654	0.965	T	0.62534	-0.6834	10	0.87932	D	0	.	11.2733	0.49153	0.0:0.0:0.5399:0.4601	.	587	Q6UY18	LIGO4_HUMAN	W	587	ENSP00000357810:R587W	ENSP00000357810:R587W	R	-	1	2	LINGO4	150040046	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	1.391000	0.34475	0.744000	0.32741	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	1	0	1	136	379	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	135	374	0	113	2								-6.630703	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LINGO4	339398	broad.mit.edu	37	1	151773618	151773618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773618G>A	ENST00000368820.3	-	2	2500	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4			21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		AAGGCCCTGGGATCCCTGGCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000368820.3	1	1	hg19	CCDS30855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	1	0	1	211	924	0	224	0	3.489898e-02	1	1	0	224	2		0	0	0	0	0	2	1	1	206	904	0	219	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LINGO4	339398	broad.mit.edu	37	1	151775046	151775046	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775046G>T	ENST00000368820.3	-	2	1072	c.135C>A	c.(133-135)ctC>ctA	p.L45L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4			21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		TGTGGCCACAGAGCACAGCCT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000368820.3	0	1	hg19	CCDS30855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	1	0	0	7	73	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	9.805126e-01	7	71	0	15	2								-12.725910	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.530000	1.000000	1.000000	0.928358	0.990000	1	7.900000e-01	1
LINGO4	339398	broad.mit.edu	37	1	151775194	151775194	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775194C>A	ENST00000368820.3	-	2	925		c.e2-1			NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4			21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		CTCTTCAGTCCTGGAATAGAT	0.562000																								0							SO:0001630	splice_region_variant			ENST00000368820.3	0	1	hg19	CCDS30855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	1	0	1	12	30	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.995028e-01	13	28	0	7	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
RORC	6097	broad.mit.edu	37	1	151785743	151785743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151785743G>A	ENST00000318247.6	-	8	1253	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.Y436Y|RORC_ENST00000356728.6_Silent_p.Y361Y	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C			19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		CCATGCCACCGTATTTGCCTT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000318247.6	1	1	hg19	CCDS1004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1	0	0	0	67	1738	0	294	1	8.699305e-01	4	91	0	294	2		0	0	0	0	1	2	1	1	63	1691	0	291	2								-3.895235	1	1	121412	3	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.470000	0.360000	0.590000	0.480000	0.479488	0.470000	0	4.100000e-01	5.400000e-01
RORC	6097	broad.mit.edu	37	1	151787891	151787891	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151787891G>A	ENST00000318247.6	-	5	416	c.309C>T	c.(307-309)ttC>ttT	p.F103F	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Silent_p.F157F|RORC_ENST00000356728.6_Silent_p.F82F	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C			19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		ACATGCGGCCGAACTTGACAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000318247.6	1	1	hg19	CCDS1004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1	1	0	1	49	261	0	64	1	9.999934e-01	38	59	0	64	2		0	0	0	0	0	2	1	1	49	258	0	64	2								-3.236529	1	1	120460	2	31	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
S100A11	6282	broad.mit.edu	37	1	152005293	152005293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152005293T>C	ENST00000271638.2	-	3	282	c.163A>G	c.(163-165)Aag>Gag	p.K55E	S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11			3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)		CCAGGGTCCTTCTGGTTCTGC	0.403000													Colon(152;1751 1834 12462 21158 46902)											0							SO:0001583	missense			ENST00000271638.2	1	1	hg19	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742281	0.69418	.	.	ENSG00000163191	ENST00000271638	T	0.06768	3.26	5.09	5.09	0.68999	EF-hand-like domain (1);	0.180386	0.38720	N	0.001594	T	0.21062	0.0507	M	0.91818	3.245	0.45914	D	0.998756	D	0.62365	0.991	P	0.58620	0.842	T	0.05419	-1.0886	10	0.62326	D	0.03	.	11.5407	0.50665	0.0:0.0:0.0:1.0	.	55	P31949	S10AB_HUMAN	E	55	ENSP00000271638:K55E	ENSP00000271638:K55E	K	-	1	0	S100A11	150271917	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.351000	0.44071	2.046000	0.60703	0.402000	0.26972	AAG		TCGA-IB-7651-01A-11D-2154-08	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	1	0	1	40	360	0	60	1	1	968	6549	0	60	2		0	0	0	0	0	2	1	1	38	354	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.930000	1.000000	1.000000	0.996290	0.990000	1	9.900000e-01	1
TCHHL1	126637	broad.mit.edu	37	1	152058970	152058970	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152058970A>T	ENST00000368806.1	-	3	1252	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1			60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)		GGGCCTCAGGACCTCTCCTCT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000368806.1	1	1	hg19	CCDS30857.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	1	0	1	184	868	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1	180	857	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCHHL1	126637	broad.mit.edu	37	1	152060019	152060019	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152060019G>T	ENST00000368806.1	-	3	203	c.139C>A	c.(139-141)Ccc>Acc	p.P47T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1			60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)		AGGACACAGGGCTGCATGAAA	0.373000																								0							SO:0001630	splice_region_variant			ENST00000368806.1	1	0	hg19	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.249639	0.39797	.	.	ENSG00000182898	ENST00000368806	T	0.13196	2.61	4.87	4.87	0.63330	EF-hand-like domain (1);	0.000000	0.38897	N	0.001526	T	0.25306	0.0615	M	0.68317	2.08	0.36272	D	0.855259	D	0.89917	1.0	D	0.97110	1.0	T	0.01133	-1.1441	10	0.52906	T	0.07	-12.1731	13.3662	0.60684	0.0:0.0:1.0:0.0	.	47	Q5QJ38	TCHL1_HUMAN	T	47	ENSP00000357796:P47T	ENSP00000357796:P47T	P	-	1	0	TCHHL1	150326643	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	2.939000	0.48995	2.521000	0.84997	0.453000	0.30009	CCC		TCGA-IB-7651-01A-11D-2154-08	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	1	0	1	38	204	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	37	200	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TCHH	7062	broad.mit.edu	37	1	152080181	152080181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080181G>A	ENST00000368804.1	-	2	5511	c.5512C>T	c.(5512-5514)Cgg>Tgg	p.R1838W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin			105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		CGCTCCTGCCGCAGCCTCTGC	0.587000																								0							SO:0001583	missense			ENST00000368804.1	1	1	hg19	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526451	0.27299	.	.	ENSG00000159450	ENST00000368804	T	0.10960	2.82	4.6	1.42	0.22433	.	.	.	.	.	T	0.05364	0.0142	L	0.58101	1.795	0.09310	N	1	D	0.57899	0.981	B	0.41466	0.358	T	0.20306	-1.0279	9	0.51188	T	0.08	-14.4328	13.2874	0.60251	0.0:0.0:0.4975:0.5025	.	1838	Q07283	TRHY_HUMAN	W	1838	ENSP00000357794:R1838W	ENSP00000357794:R1838W	R	-	1	2	TCHH	150346805	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.485000	0.22324	0.030000	0.15379	-2.281000	0.00270	CGG		TCGA-IB-7651-01A-11D-2154-08	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	1	0	1	94	438	0	74	0	3.180360e-02	0	2	0	74	2		0	0	0	0	0	2	1	1	93	427	0	69	2								-3.118450	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCHH	7062	broad.mit.edu	37	1	152080423	152080423	+	Missense_Mutation	SNP	G	G	A	rs71585886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080423G>A	ENST00000368804.1	-	2	5269	c.5270C>T	c.(5269-5271)cCg>cTg	p.P1757L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin			105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		TTCCCTTTCCGGACGGAGCTG	0.597000																								0							SO:0001583	missense			ENST00000368804.1	1	1	hg19	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626138	0.46840	.	.	ENSG00000159450	ENST00000368804	T	0.04360	3.64	3.76	-0.218	0.13142	.	.	.	.	.	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48692	-0.9013	9	0.33141	T	0.24	.	1.2456	0.01972	0.2985:0.0925:0.1541:0.4549	.	1757	Q07283	TRHY_HUMAN	L	1757	ENSP00000357794:P1757L	ENSP00000357794:P1757L	P	-	2	0	TCHH	150347047	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.629000	0.05575	-0.824000	0.03097	CCG		TCGA-IB-7651-01A-11D-2154-08	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	0	0	0	22	613	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	9.999985e-01	22	605	0	73	2								-2.681608	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.440000	0.280000	0.640000	0.450000	0.458532	0.440000	0	3.500000e-01	5.500000e-01
TCHH	7062	broad.mit.edu	37	1	152080722	152080722	+	Silent	SNP	G	G	A	rs71585886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin			105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GCTGTTGTTCGCGCTCCTGGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000368804.1	0	1	hg19	CCDS41396.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	0	0	0	13	829	0	124	0	8.681391e-04	0	3	0	124	2		0	0	0	0	0	2	1	9.994550e-01	13	810	0	118	2								-2.525111	1	1	120850	52	52	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.200000	0.100000	0.320000	0.210000	0.210914	0.200000	0	1.400000e-01	2.600000e-01
TCHH	7062	broad.mit.edu	37	1	152082432	152082432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152082432C>T	ENST00000368804.1	-	2	3260	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin			105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		cttcctcctgctgcagctcct	0.617000																								0							SO:0001819	synonymous_variant			ENST00000368804.1	1	1	hg19	CCDS41396.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	1	0	0	179	1139	0	160	0	1.865593e-02	0	2	0	160	2		0	0	0	0	0	2	1	1	176	1100	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCHH	7062	broad.mit.edu	37	1	152084576	152084576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152084576G>A	ENST00000368804.1	-	2	1116	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin			105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		tgctgctcgcgcctctcctcc	0.721000																								0							SO:0001583	missense			ENST00000368804.1	1	1	hg19	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	8.557	0.876854	0.17395	.	.	ENSG00000159450	ENST00000368804	T	0.06371	3.31	3.47	1.51	0.23008	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	P	0.35155	0.487	B	0.18561	0.022	T	0.47971	-0.9075	9	0.44086	T	0.13	.	6.206	0.20604	0.114:0.1904:0.6956:0.0	.	373	Q07283	TRHY_HUMAN	C	373	ENSP00000357794:R373C	ENSP00000357794:R373C	R	-	1	0	TCHH	150351200	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.132000	0.15891	0.193000	0.20303	-0.285000	0.09966	CGC		TCGA-IB-7651-01A-11D-2154-08	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	1	0	0	45	274	0	40		0	0	0	0	40	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TCHH	7062	broad.mit.edu	37	1	152085355	152085355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152085355C>T	ENST00000368804.1	-	2	337	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin			105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		TTCTTGCCTGCGATCTTGTAA	0.567000																								0							SO:0001583	missense			ENST00000368804.1	1	1	hg19	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.389	0.630450	0.14322	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	4.71	1.59	0.23543	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.24988	N	0.991556	P	0.48589	0.912	B	0.36608	0.229	T	0.42832	-0.9428	9	0.48119	T	0.1	-1.9391	1.3116	0.02099	0.1722:0.4464:0.1869:0.1946	.	113	Q07283	TRHY_HUMAN	H	113	ENSP00000357794:R113H	ENSP00000357794:R113H	R	-	2	0	TCHH	150351979	0.001000	0.12720	0.931000	0.37212	0.100000	0.18952	-0.024000	0.12435	0.694000	0.31654	0.552000	0.68991	CGC		TCGA-IB-7651-01A-11D-2154-08	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	1	0	1	278	887	0	154	0	0	0	1	0	154	2		0	0	0	0	0	2	1	1	271	859	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPTN	126638	broad.mit.edu	37	1	152127264	152127264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152127264G>A	ENST00000316073.3	-	3	2375	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin			59					TGCCTGTCTCGTCTCTGACGG	0.473000																								0							SO:0001587	stop_gained			ENST00000316073.3	0	1	hg19	CCDS41397.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	37	6.007274	0.97195	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	5.09	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.24012	N	0.996175	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0492	6.6798	0.23113	0.0867:0.0:0.3764:0.5369	.	.	.	.	X	771;426	.	ENSP00000317895:R771X	R	-	1	2	RPTN	150393888	0.001000	0.12720	0.205000	0.23548	0.272000	0.26649	0.228000	0.17814	0.371000	0.24564	0.643000	0.83706	CGA		TCGA-IB-7651-01A-11D-2154-08	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	1	0	1	443	2273	0	458		0	0	0	0	458	2		0	0	0	0	0	2	1	1	419	2197	0	453	2								-3.142702	1	1	120610	24	51	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPTN	126638	broad.mit.edu	37	1	152128896	152128896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152128896C>T	ENST00000316073.3	-	3	743	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	p.A227T(1)		59					CGATTTAAGGCAAAGATATGT	0.413000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000316073.3	1	1	hg19	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938550	0.52972	.	.	ENSG00000215853	ENST00000316073	T	0.12361	2.69	4.69	1.63	0.23807	.	.	.	.	.	T	0.03220	0.0094	L	0.58101	1.795	0.09310	N	1	P	0.40144	0.704	B	0.35859	0.212	T	0.35968	-0.9767	9	0.10111	T	0.7	-0.5711	2.3274	0.04226	0.1974:0.5017:0.191:0.11	.	227	Q6XPR3	RPTN_HUMAN	T	227	ENSP00000317895:A227T	ENSP00000317895:A227T	A	-	1	0	RPTN	150395520	1.000000	0.71417	0.975000	0.42487	0.376000	0.30014	1.303000	0.33470	2.146000	0.66826	0.442000	0.29010	GCC		TCGA-IB-7651-01A-11D-2154-08	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	1	0	1	289	897	0	198		0	0	0	0	198	2		0	0	0	0	0	2	1	1	285	876	0	197	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRNR	388697	broad.mit.edu	37	1	152192138	152192138	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192138G>T	ENST00000368801.2	-	3	2042	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin			192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		AGACTGGCCAGATCCAGAGCC	0.587000																								0							SO:0001583	missense			ENST00000368801.2	1	1	hg19	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.898	0.535292	0.13188	.	.	ENSG00000197915	ENST00000368801	T	0.05447	3.44	4.05	3.1	0.35709	.	.	.	.	.	T	0.06005	0.0156	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.28964	-1.0027	9	0.56958	D	0.05	.	9.3797	0.38306	0.0:0.219:0.781:0.0	.	656	Q86YZ3	HORN_HUMAN	Y	656	ENSP00000357791:S656Y	ENSP00000357791:S656Y	S	-	2	0	HRNR	150458762	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.274000	0.18680	0.864000	0.35578	0.644000	0.83932	TCT		TCGA-IB-7651-01A-11D-2154-08	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	1	0	1	197	1292	0	327	0	0	0	1	0	327	2		0	0	0	0	0	2	1	1	188	1096	0	321	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRNR	388697	broad.mit.edu	37	1	152192207	152192207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192207G>A	ENST00000368801.2	-	3	1973	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin			192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GTGGCTGGAAGACTGACCTGA	0.577000																								0							SO:0001583	missense			ENST00000368801.2	1	1	hg19	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.680	0.309977	0.10733	.	.	ENSG00000197915	ENST00000368801	T	0.03982	3.74	3.7	2.77	0.32553	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.56612	0.802	T	0.50516	-0.8819	9	0.25751	T	0.34	.	10.104	0.42521	0.0:0.0:0.7977:0.2023	.	633	Q86YZ3	HORN_HUMAN	F	633	ENSP00000357791:S633F	ENSP00000357791:S633F	S	-	2	0	HRNR	150458831	0.031000	0.19500	0.009000	0.14445	0.002000	0.02628	0.924000	0.28777	0.753000	0.32945	-0.194000	0.12790	TCT		TCGA-IB-7651-01A-11D-2154-08	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	1	0	1	270	1526	0	390		0	0	0	0	390	2		0	0	0	0	0	2	1	1	249	1252	0	377	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRNR	388697	broad.mit.edu	37	1	152192830	152192830	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192830G>A	ENST00000368801.2	-	3	1350	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin			192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GCTGGCCGTGGCCTGGAGACT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000368801.2	1	1	hg19	CCDS30859.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	1	0	1	164	449	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	164	438	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG	2312	broad.mit.edu	37	1	152276040	152276040	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152276040G>A	ENST00000368799.1	-	3	11357	c.11322C>T	c.(11320-11322)caC>caT	p.H3774H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	p.H3774H(2)		424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		CCGATTGCTCGTGGTAGGATC	0.592000									Ichthyosis															2	Substitution - coding silent(2)						SO:0001819	synonymous_variant	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	0	238	2600	0	496		0	0	0	0	496	2		0	0	0	0	0	2	1	1	234	2542	0	500	2								-20.000000	1	1	121412	5	46	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.930000	1.000000	1.000000	0.995499	0.990000	1	9.900000e-01	1
FLG	2312	broad.mit.edu	37	1	152277244	152277244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152277244C>T	ENST00000368799.1	-	3	10153	c.10118G>A	c.(10117-10119)cGt>cAt	p.R3373H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		TGACCGGTCACGTGCGGACTC	0.592000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228161	0.22542	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00940	5.52	2.71	-5.36	0.02689	.	.	.	.	.	T	0.00524	0.0017	L	0.60957	1.885	0.09310	N	1	P	0.46706	0.883	P	0.46419	0.516	T	0.18053	-1.0349	9	0.21540	T	0.41	-0.9891	9.4993	0.39008	0.0:0.2497:0.0:0.7503	.	3373	P20930	FILA_HUMAN	H	3373;311	ENSP00000357789:R3373H	ENSP00000357786:R311H	R	-	2	0	FLG	150543868	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.270000	0.02433	-0.396000	0.06452	CGT		TCGA-IB-7651-01A-11D-2154-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	1	657	2004	0	524	0	0	0	1	0	524	2		0	0	0	0	0	2	1	1	641	1948	0	516	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG	2312	broad.mit.edu	37	1	152279011	152279011	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152279011T>C	ENST00000368799.1	-	3	8386	c.8351A>G	c.(8350-8352)gAc>gGc	p.D2784G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		ACGAATGGTGTCCTGACCGTC	0.602000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	9.496	1.101951	0.20632	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01629	4.72	2.68	-5.36	0.02689	.	.	.	.	.	T	0.00695	0.0023	M	0.77820	2.39	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.42378	-0.9455	9	0.44086	T	0.13	8.0E-4	1.9501	0.03364	0.1086:0.2667:0.189:0.4357	.	2784	P20930	FILA_HUMAN	G	2784;46	ENSP00000357789:D2784G	ENSP00000357786:D46G	D	-	2	0	FLG	150545635	0.243000	0.23878	0.000000	0.03702	0.067000	0.16453	-0.243000	0.08915	-1.533000	0.01745	0.254000	0.18369	GAC		TCGA-IB-7651-01A-11D-2154-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	0	548	4403	0	840		0	0	0	0	840	2		0	0	0	0	0	2	1	1	532	4241	0	897	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG	2312	broad.mit.edu	37	1	152281915	152281915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281915T>C	ENST00000368799.1	-	3	5482	c.5447A>G	c.(5446-5448)cAc>cGc	p.H1816R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		TGACCCTGGGTGTCCACGAAT	0.597000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	5.848	0.340718	0.11069	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01629	4.72	4.0	0.302	0.15786	.	.	.	.	.	T	0.00608	0.0020	M	0.65320	2	0.09310	N	1	P	0.37864	0.61	B	0.37833	0.259	T	0.39881	-0.9592	9	0.05525	T	0.97	.	6.1779	0.20455	0.0:0.3321:0.0:0.6679	.	1816	P20930	FILA_HUMAN	R	1816;51	ENSP00000357789:H1816R	ENSP00000271820:H51R	H	-	2	0	FLG	150548539	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.039000	0.13602	-0.490000	0.04691	CAC		TCGA-IB-7651-01A-11D-2154-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	1	704	2176	2	525	0	5.977942e-02	0	2	2	525	2		0	0	0	0	0	2	1	1	690	2112	2	517	26								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG	2312	broad.mit.edu	37	1	152281939	152281939	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281939T>C	ENST00000368799.1	-	3	5458	c.5423A>G	c.(5422-5424)gAg>gGg	p.E1808G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GTCCTGACCCTCTTGGGACGC	0.597000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	6.540	0.467921	0.12402	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01745	4.66	2.15	-0.104	0.13605	.	.	.	.	.	T	0.02380	0.0073	M	0.75447	2.3	0.09310	N	1	D	0.57899	0.981	D	0.67900	0.954	T	0.41215	-0.9521	9	0.38643	T	0.18	-1.1804	4.4071	0.11414	0.0:0.5757:0.0:0.4243	.	1808	P20930	FILA_HUMAN	G	1808;43	ENSP00000357789:E1808G	ENSP00000271820:E43G	E	-	2	0	FLG	150548563	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.205000	0.09411	-0.012000	0.14223	0.378000	0.23410	GAG		TCGA-IB-7651-01A-11D-2154-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	1	465	2302	1	496		0	0	0	1	496	2		0	0	0	0	0	2	1	1	456	2234	1	488	19								-20.000000	1	0	121412	6	44	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG	2312	broad.mit.edu	37	1	152285813	152285813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152285813G>A	ENST00000368799.1	-	3	1584	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GGGTGTCCACGAATGGTGTCC	0.602000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.810	1.182872	0.21870	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01745	4.66	2.91	-0.649	0.11461	.	.	.	.	.	T	0.02494	0.0076	M	0.77616	2.38	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.39981	-0.9587	9	0.56958	D	0.05	.	1.2341	0.01949	0.1416:0.2215:0.4109:0.2261	.	517	P20930	FILA_HUMAN	C	517;49	ENSP00000357789:R517C	ENSP00000357789:R517C	R	-	1	0	FLG	150552437	.	.	0.000000	0.03702	0.001000	0.01503	.	.	0.100000	0.17581	0.603000	0.83216	CGT		TCGA-IB-7651-01A-11D-2154-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	1	0	1	692	2072	1	496		0	0	0	1	496	2		0	0	0	0	0	2	1	1	672	2016	0	489	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG2	388698	broad.mit.edu	37	1	152323365	152323365	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323365T>C	ENST00000388718.5	-	3	6969	c.6897A>G	c.(6895-6897)ggA>ggG	p.G2299G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2			188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		CTCCTGTCTGTCCATGAGTAG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000388718.5	1	1	hg19	CCDS30861.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1	270	1266	0	269		0	0	0	0	269	2		0	0	0	0	0	2	1	1	263	1225	0	264	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG2	388698	broad.mit.edu	37	1	152323561	152323561	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323561T>C	ENST00000388718.5	-	3	6773	c.6701A>G	c.(6700-6702)cAc>cGc	p.H2234R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2			188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		ATAACCATAGTGGGCATGTCT	0.542000																								0							SO:0001583	missense			ENST00000388718.5	1	1	hg19	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	5.866	0.343922	0.11126	.	.	ENSG00000143520	ENST00000388718	T	0.03717	3.83	3.52	-0.349	0.12609	.	.	.	.	.	T	0.02533	0.0077	L	0.46157	1.445	0.09310	N	1	D	0.62365	0.991	D	0.65773	0.938	T	0.37267	-0.9713	9	0.19147	T	0.46	3.5718	2.6873	0.05111	0.1937:0.226:0.0:0.5803	.	2234	Q5D862	FILA2_HUMAN	R	2234	ENSP00000373370:H2234R	ENSP00000373370:H2234R	H	-	2	0	FLG2	150590185	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.973000	0.01500	-0.055000	0.13244	0.450000	0.29827	CAC		TCGA-IB-7651-01A-11D-2154-08	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1	392	1945	0	468		0	0	0	0	468	2		0	0	0	0	0	2	1	1	387	1905	0	464	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG2	388698	broad.mit.edu	37	1	152325221	152325221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152325221G>A	ENST00000388718.5	-	3	5113	c.5041C>T	c.(5041-5043)Cat>Tat	p.H1681Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2			188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GACTGTCCATGTTGAGATCCA	0.478000																								0							SO:0001583	missense			ENST00000388718.5	1	1	hg19	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195910	0.22037	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.69	2.73	0.32206	.	.	.	.	.	T	0.02418	0.0074	M	0.72118	2.19	0.09310	N	1	D	0.61697	0.99	P	0.48524	0.58	T	0.14924	-1.0455	9	0.02654	T	1	2.4938	8.3613	0.32361	0.0:0.0:0.7652:0.2348	.	1681	Q5D862	FILA2_HUMAN	Y	1681	ENSP00000373370:H1681Y	ENSP00000373370:H1681Y	H	-	1	0	FLG2	150591845	.	.	0.002000	0.10522	0.066000	0.16364	.	.	0.858000	0.35431	0.456000	0.33151	CAT		TCGA-IB-7651-01A-11D-2154-08	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1	305	1540	0	378		0	0	0	0	378	2		0	0	0	0	0	2	1	1	299	1504	0	375	2								-2.806943	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG2	388698	broad.mit.edu	37	1	152327349	152327349	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152327349G>A	ENST00000388718.5	-	3	2985	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2			188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		CAAAGCCAGAGGACTGACCTG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000388718.5	1	0	hg19	CCDS30861.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	1	349	1634	0	443		0	0	0	0	443	2		0	0	0	0	0	2	1	1	340	1577	0	439	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLG2	388698	broad.mit.edu	37	1	152329582	152329582	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152329582G>T	ENST00000388718.5	-	3	752	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2			188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GTTTGATCCAGATCCAGATTC	0.433000																								0							SO:0001583	missense			ENST00000388718.5	1	1	hg19	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.021952	0.02061	.	.	ENSG00000143520	ENST00000388718	T	0.00695	5.83	5.19	1.15	0.20763	.	.	.	.	.	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.17098	0.017	T	0.40496	-0.9560	9	0.44086	T	0.13	-0.1609	3.5397	0.07807	0.0825:0.146:0.4701:0.3015	.	227	Q5D862	FILA2_HUMAN	Y	227	ENSP00000373370:S227Y	ENSP00000373370:S227Y	S	-	2	0	FLG2	150596206	0.048000	0.20356	0.008000	0.14137	0.129000	0.20672	0.751000	0.26348	0.054000	0.16065	-0.156000	0.13503	TCT		TCGA-IB-7651-01A-11D-2154-08	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	1	0	0	114	1188	0	251		0	0	0	0	251	2		0	0	0	0	0	2	1	1	112	1157	0	246	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.920000	1.000000	1.000000	0.995222	0.990000	1	9.900000e-01	1
CRNN	49860	broad.mit.edu	37	1	152382446	152382446	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152382446G>T	ENST00000271835.3	-	3	1174	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin			35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		CTGTTCTCTAGCCCCTCCGTG	0.592000																								0							SO:0001583	missense			ENST00000271835.3	1	1	hg19	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851255	0.17034	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.41	0.178	0.15058	.	0.979395	0.08353	N	0.958954	T	0.01124	0.0037	L	0.31578	0.945	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.49123	-0.8972	10	0.14656	T	0.56	.	3.5545	0.07860	0.1941:0.0:0.4613:0.3446	.	371	Q9UBG3	CRNN_HUMAN	D	371	ENSP00000271835:A371D	ENSP00000271835:A371D	A	-	2	0	CRNN	150649070	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.067000	0.14510	-0.049000	0.13379	-0.237000	0.12165	GCT		TCGA-IB-7651-01A-11D-2154-08	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	1	0	1	202	891	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	198	862	0	140	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRNN	49860	broad.mit.edu	37	1	152383288	152383288	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152383288G>A	ENST00000271835.3	-	3	332	c.270C>T	c.(268-270)agC>agT	p.S90S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin			35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		CAGCACTCTCGCTCAGTGTCT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000271835.3	1	1	hg19	CCDS1010.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	1	0	1	169	1189	0	231		0	0	0	0	231	2		0	0	0	0	0	2	1	1	164	1164	0	227	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCE5A	254910	broad.mit.edu	37	1	152484304	152484304	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152484304C>A	ENST00000334269.2	+	2	470	c.294C>A	c.(292-294)ggC>ggA	p.G98G	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A			7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		AGTCTGGGGGCTCCAGCTGCT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000334269.2	0	1	hg19	CCDS1011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	0	0	0	12	368	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	9.990471e-01	12	361	0	60	2								-12.415850	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.410000	0.220000	0.670000	0.390000	0.430684	0.410000	0	3.000000e-01	5.400000e-01
LCE3A	353142	broad.mit.edu	37	1	152595443	152595443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152595443C>T	ENST00000335674.1	-	1	136	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A			6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		CAGGCAGCAGCTGCGCTCGGA	0.657000																								0							SO:0001583	missense			ENST00000335674.1	1	1	hg19	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022189	0.07634	.	.	ENSG00000185962	ENST00000335674	T	0.04015	3.73	3.61	3.61	0.41365	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	B	0.25609	0.13	B	0.24269	0.052	T	0.40831	-0.9542	8	0.62326	D	0.03	.	10.9218	0.47169	0.0:1.0:0.0:0.0	.	46	Q5TA76	LCE3A_HUMAN	N	46	ENSP00000335006:S46N	ENSP00000335006:S46N	S	-	2	0	LCE3A	150862067	0.724000	0.28038	0.059000	0.19551	0.012000	0.07955	1.084000	0.30828	2.002000	0.58637	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	0	0	0	35	500	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	34	491	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.830000	0.590000	1.000000	1.000000	0.839382	0.830000	0	7.000000e-01	9.800000e-01
KPRP	448834	broad.mit.edu	37	1	152732646	152732646	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152732646G>A	ENST00000606109.1	+	1	610	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_ENST00000368773.1_Silent_p.Q194Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein			60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		GTGGCCCCCAGTTTCAGTCAA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000606109.1	1	1	hg19	CCDS30862.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	1	0	0	215	586	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	1	209	574	0	175	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KPRP	448834	broad.mit.edu	37	1	152733397	152733397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152733397C>T	ENST00000606109.1	+	1	1361	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KPRP_ENST00000368773.1_Missense_Mutation_p.R445W			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein			60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		TCCAACACCGCGGCCAGTTCC	0.582000																								0							SO:0001583	missense			ENST00000606109.1	0	1	hg19	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	5.697	0.313134	0.10789	.	.	ENSG00000203786	ENST00000368773	T	0.15952	2.38	1.66	-3.18	0.05186	.	0.339830	0.21778	N	0.069258	T	0.02193	0.0068	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36138	-0.9760	10	0.48119	T	0.1	-4.7283	4.4444	0.11589	0.0:0.287:0.1788:0.5342	.	445	Q5T749	KPRP_HUMAN	W	445	ENSP00000357762:R445W	ENSP00000357762:R445W	R	+	1	2	KPRP	151000021	0.049000	0.20398	0.008000	0.14137	0.028000	0.11728	0.165000	0.16564	-1.060000	0.03189	-0.448000	0.05591	CGG		TCGA-IB-7651-01A-11D-2154-08	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	0	0	0	18	894	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	9.999768e-01	17	873	0	143	2								-2.790703	1	1	121412	2	38	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.250000	0.150000	0.380000	0.250000	0.264399	0.250000	0	1.900000e-01	3.200000e-01
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152749094C>A	ENST00000334371.2	+	1	247	c.247C>A	c.(247-249)Cgt>Agt	p.R83S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F			15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		CCACAGACGGCGTAGGTCCCA	0.701000																								0							SO:0001583	missense			ENST00000334371.2	1	1	hg19	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	8.593	0.885064	0.17540	.	.	ENSG00000240386	ENST00000334371	T	0.04119	3.7	4.45	3.46	0.39613	.	0.268702	0.18250	N	0.146987	T	0.02533	0.0077	M	0.65498	2.005	0.22468	N	0.999073	P	0.38455	0.632	B	0.32805	0.153	T	0.24870	-1.0148	10	0.87932	D	0	.	9.1314	0.36848	0.2177:0.7823:0.0:0.0	.	83	Q5T754	LCE1F_HUMAN	S	83	ENSP00000334187:R83S	ENSP00000334187:R83S	R	+	1	0	LCE1F	151015718	0.007000	0.16637	0.983000	0.44433	0.400000	0.30750	1.238000	0.32707	2.445000	0.82738	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	1	0	0	109	275	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	105	272	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCE1D	353134	broad.mit.edu	37	1	152770357	152770357	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770357T>C	ENST00000326233.6	+	2	130	c.87T>C	c.(85-87)tgT>tgC	p.C29C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D			1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		CCCCTAAATGTCCCCCTAAGT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000326233.6	1	1	hg19	CCDS1025.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	1	0	0	97	221	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	94	216	0	64	2								-8.746392	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCE1D	353134	broad.mit.edu	37	1	152770417	152770417	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770417C>A	ENST00000326233.6	+	2	190	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D			1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		GCTGCTGTGGCTCCAGCTCTG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000326233.6	1	1	hg19	CCDS1025.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	1	0	0	108	221	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	108	218	0	67	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCE1C	353133	broad.mit.edu	37	1	152777708	152777708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777708G>A	ENST00000607093.1	-	1	246	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_ENST00000368768.1_Missense_Mutation_p.R83C			Q5T751	LCE1C_HUMAN	late cornified envelope 1C			9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		TGGGACCTACGGCGCCTGTGG	0.701000																								0							SO:0001583	missense			ENST00000607093.1	1	1	hg19	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.023866	0.02061	.	.	ENSG00000197084	ENST00000368768	T	0.04406	3.63	3.16	1.01	0.19927	.	0.314770	0.14807	N	0.297281	T	0.01976	0.0062	M	0.66939	2.045	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39099	-0.9630	10	0.87932	D	0	.	3.3949	0.07302	0.1428:0.0:0.607:0.2503	.	83	Q5T751	LCE1C_HUMAN	C	83	ENSP00000357757:R83C	ENSP00000357757:R83C	R	-	1	0	LCE1C	151044332	0.048000	0.20356	0.197000	0.23402	0.030000	0.12068	1.863000	0.39459	0.659000	0.30945	-0.137000	0.14449	CGT		TCGA-IB-7651-01A-11D-2154-08	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	1	0	1	98	502	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	94	488	0	84	2								-3.147949	1	1	121372	2	33	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCE1C	353133	broad.mit.edu	37	1	152777882	152777882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777882G>A	ENST00000607093.1	-	1	72	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	LCE1C_ENST00000368768.1_Missense_Mutation_p.P25S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C			9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		tttggggTGgggcacttggga	0.637000																								0							SO:0001583	missense			ENST00000607093.1	1	1	hg19	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968345	0.02232	.	.	ENSG00000197084	ENST00000368768	T	0.03663	3.85	3.53	-0.578	0.11724	.	.	.	.	.	T	0.01489	0.0048	M	0.68952	2.095	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43048	-0.9415	9	0.87932	D	0	.	3.3399	0.07115	0.3664:0.2056:0.428:0.0	.	25	Q5T751	LCE1C_HUMAN	S	25	ENSP00000357757:P25S	ENSP00000357757:P25S	P	-	1	0	LCE1C	151044506	0.872000	0.30054	0.035000	0.18076	0.093000	0.18481	2.296000	0.43584	0.008000	0.14787	-0.150000	0.13652	CCC		TCGA-IB-7651-01A-11D-2154-08	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	1	0	1	109	305	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	103	291	0	70	2								-20.000000	1	1	121406	2	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IVL	3713	broad.mit.edu	37	1	152883822	152883822	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152883822G>C	ENST00000368764.3	+	2	1613	c.1549G>C	c.(1549-1551)Gac>Cac	p.D517H	IVL_ENST00000392667.2_Missense_Mutation_p.D371H			P07476	INVO_HUMAN	involucrin			29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		agagcagcaggacggacaact	0.607000																								0							SO:0001583	missense			ENST00000368764.3	1	1	hg19	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732617	0.30684	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10573	3.03;2.86	3.39	3.39	0.38822	.	.	.	.	.	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.57009	0.811	T	0.36383	-0.9750	9	0.59425	D	0.04	.	10.9889	0.47539	0.0:0.0:1.0:0.0	.	517	P07476	INVO_HUMAN	H	517;371	ENSP00000357753:D517H;ENSP00000376435:D371H	ENSP00000357753:D517H	D	+	1	0	IVL	151150446	0.000000	0.05858	0.014000	0.15608	0.003000	0.03518	-0.443000	0.06862	1.853000	0.53794	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	1	0	1	26	70	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	1	27	67	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPRR2A	6700	broad.mit.edu	37	1	153029119	153029119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153029119C>A	ENST00000392653.2	-	2	178	c.93G>T	c.(91-93)aaG>aaT	p.K31N		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A			3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		GCTCAGGGCACTTCGGGGGTG	0.622000																								0							SO:0001583	missense			ENST00000392653.2	0	1	hg19	CCDS1034.1	.	.	.	.	.	.	.	.	.	.	C	5.037	0.192582	0.09599	.	.	ENSG00000241794	ENST00000392653	T	0.44482	0.92	2.79	-3.06	0.05379	.	0.000000	0.37136	N	0.002230	T	0.14743	0.0356	.	.	.	0.09310	N	1	B	0.24920	0.114	B	0.30855	0.121	T	0.31586	-0.9938	9	0.87932	D	0	.	8.3444	0.32263	0.0:0.7873:0.0:0.2127	.	31	P35326	SPR2A_HUMAN	N	31	ENSP00000376423:K31N	ENSP00000376423:K31N	K	-	3	2	SPRR2A	151295743	0.005000	0.15991	0.009000	0.14445	0.119000	0.20118	-1.132000	0.03235	-0.916000	0.03818	-0.498000	0.04607	AAG		TCGA-IB-7651-01A-11D-2154-08	SPRR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040049.1	0	0	0	144	450	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	105	319	0	179	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPRR2G	6706	broad.mit.edu	37	1	153122548	153122548	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153122548C>A	ENST00000368748.4	-	2	77	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G			3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		CAGGAGGTGGCTGGCAGGGCT	0.562000																								0							SO:0001583	missense			ENST00000368748.4	1	1	hg19	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235718	0.22626	.	.	ENSG00000159516	ENST00000439437;ENST00000368748	T	0.40476	1.03	5.36	-1.17	0.09648	.	0.258337	0.20535	N	0.090431	T	0.11239	0.0274	.	.	.	0.22317	N	0.999202	B	0.11235	0.004	B	0.12156	0.007	T	0.22173	-1.0224	9	0.87932	D	0	-5.5941	3.6824	0.08316	0.2683:0.4183:0.0:0.3134	.	13	Q9BYE4	SPR2G_HUMAN	H	13	ENSP00000357737:Q13H	ENSP00000357737:Q13H	Q	-	3	2	SPRR2G	151389172	0.008000	0.16893	0.751000	0.31187	0.738000	0.42128	-1.227000	0.02950	-0.105000	0.12132	-0.208000	0.12717	CAG		TCGA-IB-7651-01A-11D-2154-08	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1	1	0	1	91	563	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	88	540	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGLYRP3	114771	broad.mit.edu	37	1	153279722	153279722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153279722C>T	ENST00000290722.1	-	2	129	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3			28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		CCACTCCTTGCGGGAGACGAT	0.627000																								0							SO:0001583	missense			ENST00000290722.1	0	1	hg19	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639998	0.47153	.	.	ENSG00000159527	ENST00000290722	T	0.57436	0.4	4.21	3.27	0.37495	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	0.172267	0.25906	N	0.027534	T	0.27205	0.0667	L	0.60455	1.87	0.24925	N	0.991952	P	0.47191	0.891	B	0.36289	0.221	T	0.09079	-1.0691	10	0.87932	D	0	-13.0525	10.0377	0.42139	0.0:0.7946:0.2054:0.0	.	26	Q96LB9	PGRP3_HUMAN	H	26	ENSP00000290722:R26H	ENSP00000290722:R26H	R	-	2	0	PGLYRP3	151546346	0.310000	0.24527	0.967000	0.41034	0.072000	0.16883	1.119000	0.31258	1.086000	0.41228	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	1	0	0	7	79	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	9.813275e-01	7	78	0	14	2								-11.951210	1	1	121310	3	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.490000	1.000000	1.000000	0.907922	0.990000	1	7.400000e-01	1
PGLYRP4	57115	broad.mit.edu	37	1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153312923C>T	ENST00000359650.5	-	7	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249H	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4			23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		GACCAGCAGGCGGCACTCATC	0.542000																								0							SO:0001583	missense			ENST00000359650.5	1	1	hg19	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996509	0.35226	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	-1.61	0.08399	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;D	0.65987	0.901;0.94	T	0.07947	-1.0746	10	0.45353	T	0.12	-24.8992	7.2323	0.26049	0.0:0.3842:0.0:0.6158	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	249;253	ENSP00000357728:R249H;ENSP00000352672:R253H	ENSP00000352672:R253H	R	-	2	0	PGLYRP4	151579547	0.000000	0.05858	0.397000	0.26308	0.498000	0.33706	-1.787000	0.01764	-0.225000	0.09913	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	1	0	1	100	334	1	95		0	0	0	1	95	2		0	0	0	0	0	2	1	1	98	327	1	94	16								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGLYRP4	57115	broad.mit.edu	37	1	153314114	153314114	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153314114C>A	ENST00000359650.5	-	6	678	c.614G>T	c.(613-615)aGc>aTc	p.S205I	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.S201I	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4			23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		CTTCTTCAGGCTTGTCTTCTG	0.537000																								0							SO:0001583	missense			ENST00000359650.5	1	1	hg19	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881545	0.17467	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.23552	1.9;1.9	4.2	-1.28	0.09318	N-acetylmuramoyl-L-alanine amidase domain (4);	0.745300	0.12522	N	0.461528	T	0.04182	0.0116	L	0.31926	0.97	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16722	0.005;0.016	T	0.41052	-0.9530	10	0.21014	T	0.42	-38.0861	0.9165	0.01305	0.4022:0.2713:0.1759:0.1507	.	201;205	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	I	201;205	ENSP00000357728:S201I;ENSP00000352672:S205I	ENSP00000352672:S205I	S	-	2	0	PGLYRP4	151580738	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.601000	0.02081	-0.042000	0.13535	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	1	0	1	95	561	0	115	0	0	0	1	0	115	2		0	0	0	0	0	2	1	1	93	547	0	114	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
S100A7A	338324	broad.mit.edu	37	1	153391710	153391710	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153391710C>A	ENST00000368729.4	+	3	288	c.231C>A	c.(229-231)tcC>tcA	p.S77S	S100A7A_ENST00000329256.2_Silent_p.S77S|S100A7A_ENST00000368728.2_Silent_p.S77S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A			12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		AGTTTCTGTCCTTGCTGGGAG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000368729.4	0	1	hg19	CCDS30872.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	0	0	0	14	396	1	62		0	0	0	1	62	2		0	0	0	0	0	2	0	1.563873e-01	14	379	1	62	20								-2.899154	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.440000	0.250000	0.690000	0.430000	0.461046	0.440000	0	3.300000e-01	5.700000e-01
S100A4	6275	broad.mit.edu	37	1	153516359	153516359	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153516359T>C	ENST00000368716.4	-	3	329	c.182A>G	c.(181-183)aAc>aGc	p.N61S	S100A5_ENST00000368718.1_5'Flank|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Missense_Mutation_p.N61S|S100A4_ENST00000368714.1_Missense_Mutation_p.N61S|S100A4_ENST00000354332.4_Missense_Mutation_p.N61S	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4			4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)	Trifluoperazine(DB00831)	GCTGTCCAAGTTGCTCATCAG	0.507000																								0							SO:0001583	missense			ENST00000368716.4	0	1	hg19	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674686	0.47781	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	4.75	3.54	0.40534	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.174333	0.49305	D	0.000145	T	0.03178	0.0093	N	0.24115	0.695	0.36332	D	0.858924	B	0.02656	0.0	B	0.08055	0.003	T	0.26052	-1.0114	10	0.32370	T	0.25	.	7.7901	0.29114	0.0:0.0:0.2123:0.7876	.	61	P26447	S10A4_HUMAN	S	61;61;61;61;50	ENSP00000357704:N61S;ENSP00000346294:N61S;ENSP00000357705:N61S;ENSP00000357703:N61S	ENSP00000346294:N61S	N	-	2	0	S100A4	151782983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.113000	0.50376	1.788000	0.52465	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	0	0	0	18	1147	0	220	1	9.999997e-01	21	1760	0	220	2		0	0	0	0	0	2	1	9.999786e-01	19	1130	0	219	2								-10.948550	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.190000	0.110000	0.300000	0.210000	0.207237	0.190000	0	1.500000e-01	2.500000e-01
S100A13	6284	broad.mit.edu	37	1	153598820	153598820	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153598820G>A	ENST00000392623.1	-	2	319	c.129C>T	c.(127-129)acC>acT	p.T43T	S100A13_ENST00000339556.4_Silent_p.T43T|S100A13_ENST00000440685.2_Silent_p.T43T|S100A1_ENST00000368698.3_5'Flank|S100A13_ENST00000368699.1_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Silent_p.T43T|RP1-178F15.5_ENST00000497086.1_RNA|S100A1_ENST00000368696.3_5'Flank|S100A1_ENST00000292169.1_5'Flank	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13			7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)	Amlexanox(DB01025)|Olopatadine(DB00768)	GCAACTGCTGGGTAACCAGCT	0.527000													NSCLC(156;1296 1989 17590 30930 49554)											0							SO:0001819	synonymous_variant			ENST00000392623.1	1	1	hg19	CCDS30874.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	1	0	1	235	1144	0	299	1	1	151	859	0	299	2		0	0	0	0	0	2	1	1	229	1116	0	296	2								-2.967821	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ILF2	3608	broad.mit.edu	37	1	153642341	153642341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153642341C>T	ENST00000361891.4	-	3	204	c.79G>A	c.(79-81)Gta>Ata	p.V27I	ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2			7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		ATATGTGGTACAAAGGGCCTG	0.388000																								0							SO:0001583	missense			ENST00000361891.4	1	1	hg19	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945391	0.53079	.	.	ENSG00000143621	ENST00000361891;ENST00000368681	T	0.45276	0.9	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.25332	0.735	0.80722	D	1	B;B	0.33748	0.423;0.298	B;B	0.35859	0.212;0.105	T	0.04915	-1.0918	10	0.24483	T	0.36	-3.085	11.8081	0.52167	0.0:1.0:0.0:0.0	.	27;27	F4ZW62;Q12905	.;ILF2_HUMAN	I	27	ENSP00000355011:V27I	ENSP00000355011:V27I	V	-	1	0	ILF2	151908965	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.031000	0.70911	2.163000	0.67991	0.561000	0.74099	GTA		TCGA-IB-7651-01A-11D-2154-08	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	1	0	1	63	337	0	89	1	1	57	337	0	89	2		0	0	0	0	0	2	1	1	58	330	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPR1	4881	broad.mit.edu	37	1	153657450	153657450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153657450C>A	ENST00000368680.3	+	8	1967	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1			42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAAGATGCAGCTGGAGAAGGA	0.662000													Pancreas(141;1349 1870 15144 15830 40702)											0							SO:0001583	missense			ENST00000368680.3	1	1	hg19	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512980	0.64522	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.83914	-1.78	4.86	3.96	0.45880	.	0.000000	0.53938	D	0.000048	D	0.87637	0.6227	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	D	0.87090	0.2172	10	0.38643	T	0.18	.	10.9002	0.47047	0.0:0.9088:0.0:0.0912	.	4;499	B7Z4Y7;P16066	.;ANPRA_HUMAN	M	499;4	ENSP00000357669:L499M	ENSP00000357669:L499M	L	+	1	2	NPR1	151924074	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.911000	0.48774	1.282000	0.44496	-0.136000	0.14681	CTG		TCGA-IB-7651-01A-11D-2154-08	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	1	0	1	172	426	0	99	0	8.294037e-01	0	10	0	99	2		0	0	0	0	0	2	1	1	146	375	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS3	65123	broad.mit.edu	37	1	153730091	153730091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153730091G>A	ENST00000318967.2	+	10	1569	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	INTS3_ENST00000456435.1_Missense_Mutation_p.R128H|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R334H|INTS3_ENST00000512605.1_Missense_Mutation_p.R128H	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	p.R334H(1)		38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		TGGTTCCAGCGCCAGTACCTG	0.498000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000318967.2	1	1	hg19	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113640	0.94339	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	M	0.71581	2.175	0.54753	D	0.999984	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.78314	0.991;0.957;0.872	T	0.76451	-0.2954	9	0.72032	D	0.01	.	15.2588	0.73606	0.0:0.0:1.0:0.0	.	128;335;334	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	H	334;128;334;128	.	ENSP00000318641:R334H	R	+	2	0	INTS3	151996715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.815000	0.75242	2.463000	0.83235	0.455000	0.32223	CGC		TCGA-IB-7651-01A-11D-2154-08	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	1	0	1	57	674	0	134	1	9.987016e-01	11	106	0	134	2		0	0	0	0	0	2	1	1	56	662	0	133	2								-12.611540	1	1	121412	1	36	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.760000	1.000000	1.000000	0.952145	0.990000	1	8.700000e-01	1
GATAD2B	57459	broad.mit.edu	37	1	153791334	153791334	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153791334T>G	ENST00000368655.4	-	4	773	c.530A>C	c.(529-531)gAa>gCa	p.E177A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B			38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		CAGTCGGGCTTCTTCCAATCG	0.478000																								0							SO:0001583	missense			ENST00000368655.4	1	1	hg19	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211116	0.95069	.	.	ENSG00000143614	ENST00000368655	T	0.77229	-1.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.85598	0.1250	10	0.87932	D	0	-8.8656	15.1851	0.72993	0.0:0.0:0.0:1.0	.	177	Q8WXI9	P66B_HUMAN	A	177	ENSP00000357644:E177A	ENSP00000357644:E177A	E	-	2	0	GATAD2B	152057958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.231000	0.72958	0.459000	0.35465	GAA		TCGA-IB-7651-01A-11D-2154-08	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	1	0	1	110	514	0	105	1	9.990671e-01	4	46	0	105	2		0	0	0	0	0	2	1	1	107	499	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GATAD2B	57459	broad.mit.edu	37	1	153800602	153800602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153800602G>A	ENST00000368655.4	-	2	465	c.222C>T	c.(220-222)ggC>ggT	p.G74G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B			38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		TTTCTTCATAGCCCTTGACAC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000368655.4	1	1	hg19	CCDS1054.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	1	0	1	154	731	0	139	1	9.996313e-01	17	39	0	139	2		0	0	0	0	0	2	1	1	152	712	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND4B	9909	broad.mit.edu	37	1	153903473	153903473	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903473G>A	ENST00000361217.4	-	25	4482	c.4064C>T	c.(4063-4065)aCc>aTc	p.T1355I	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B			36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		GGGGTCAGGGGTCAGTACATC	0.597000																								0							SO:0001583	missense			ENST00000361217.4	1	1	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882253	0.33255	.	.	ENSG00000198837	ENST00000361217	T	0.07216	3.21	5.14	4.22	0.49857	.	0.292538	0.36972	N	0.002305	T	0.02267	0.0070	N	0.22421	0.69	0.41915	D	0.990484	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	10	0.42905	T	0.14	-17.3562	9.4167	0.38525	0.1661:0.0:0.8339:0.0	.	1355	O75064	DEN4B_HUMAN	I	1355	ENSP00000354597:T1355I	ENSP00000354597:T1355I	T	-	2	0	DENND4B	152170097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.052000	0.41316	1.364000	0.46038	0.563000	0.77884	ACC		TCGA-IB-7651-01A-11D-2154-08	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1	33	76	0	25	1	1	22	72	0	25	2		0	0	0	0	0	2	1	1	33	74	0	26	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND4B	9909	broad.mit.edu	37	1	153903495	153903495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903495G>A	ENST00000361217.4	-	25	4460	c.4042C>T	c.(4042-4044)Cgg>Tgg	p.R1348W	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B			36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		CACAGCAGCCGTACCTGAACA	0.587000																								0							SO:0001583	missense			ENST00000361217.4	1	1	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666975	0.67814	.	.	ENSG00000198837	ENST00000361217	T	0.08370	3.1	5.14	4.23	0.50019	.	0.120058	0.56097	D	0.000030	T	0.04770	0.0129	L	0.54323	1.7	0.47153	D	0.999338	B	0.11235	0.004	B	0.08055	0.003	T	0.08310	-1.0728	10	0.87932	D	0	-14.5368	12.8832	0.58028	0.0798:0.0:0.9202:0.0	.	1348	O75064	DEN4B_HUMAN	W	1348	ENSP00000354597:R1348W	ENSP00000354597:R1348W	R	-	1	2	DENND4B	152170119	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.021000	0.57196	1.392000	0.46585	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1	15	91	0	23	1	9.997273e-01	24	67	0	23	2		0	0	0	0	0	2	1	9.999135e-01	15	91	0	23	2								-3.254652	1	0	120944	2	25	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998865	0.990000	1	9.900000e-01	1
DENND4B	9909	broad.mit.edu	37	1	153903514	153903514	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903514A>G	ENST00000361217.4	-	25	4441	c.4023T>C	c.(4021-4023)gaT>gaC	p.D1341D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B			36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		CAGAGGCTGGATCAGGGGTTA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000361217.4	0	1	hg19	CCDS44228.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1	11	85	0	18	1	9.950034e-01	13	62	0	18	2		0	0	0	0	0	2	1	9.985829e-01	11	84	0	18	2								-18.059460	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.800000	1.000000	1.000000	0.987468	0.990000	1	9.900000e-01	1
DENND4B	9909	broad.mit.edu	37	1	153905988	153905988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153905988G>A	ENST00000361217.4	-	20	3719	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B			36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		GGGCGCTCCCGGGGGTGCAGA	0.662000																								0							SO:0001583	missense			ENST00000361217.4	1	1	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520513	0.64747	5.27E-4	0.0	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08458	3.18;3.09	5.17	4.26	0.50523	.	0.604283	0.16522	N	0.210745	T	0.03178	0.0093	N	0.14661	0.345	0.32359	N	0.557483	D	0.69078	0.997	P	0.47603	0.551	T	0.35624	-0.9781	10	0.72032	D	0.01	-25.4046	10.9546	0.47349	0.0877:0.0:0.9123:0.0	.	1101	O75064	DEN4B_HUMAN	W	1101;1112	ENSP00000354597:R1101W;ENSP00000357635:R1112W	ENSP00000354597:R1101W	R	-	1	2	DENND4B	152172612	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.929000	0.48916	1.416000	0.47057	0.455000	0.32223	CGG		TCGA-IB-7651-01A-11D-2154-08	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1	49	148	0	23	1	9.999938e-01	14	45	0	23	2		0	0	0	0	0	2	1	1	49	142	0	23	2								-4.518011	1	1	119886	7	37	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND4B	9909	broad.mit.edu	37	1	153907339	153907339	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153907339G>T	ENST00000361217.4	-	18	3088	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B			36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		GTTCTCTCAAGGGCTGGCGGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000361217.4	1	1	hg19	CCDS44228.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1	103	552	0	105	1	9.999092e-01	17	56	0	105	2		0	0	0	0	0	2	1	1	99	543	0	105	2								-2.775934	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND4B	9909	broad.mit.edu	37	1	153909116	153909116	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153909116C>T	ENST00000361217.4	-	16	2759	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B			36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		CGCACATAGGCAGGCAGACAC	0.637000																								0							SO:0001583	missense			ENST00000361217.4	1	1	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.551604	0.45487	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07021	3.24;3.23	4.77	4.77	0.60923	.	0.060224	0.64402	D	0.000002	T	0.01870	0.0059	N	0.13299	0.325	0.37388	D	0.912324	B	0.17852	0.024	B	0.11329	0.006	T	0.40608	-0.9554	10	0.38643	T	0.18	-17.5058	7.0873	0.25264	0.0:0.8157:0.0:0.1843	.	781	O75064	DEN4B_HUMAN	T	781;792	ENSP00000354597:A781T;ENSP00000357635:A792T	ENSP00000354597:A781T	A	-	1	0	DENND4B	152175740	0.181000	0.23161	0.905000	0.35620	0.600000	0.36913	0.651000	0.24873	2.463000	0.83235	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	1	0	1	64	129	0	24	1	9.997437e-01	11	18	0	24	2		0	0	0	0	0	2	1	1	64	129	0	24	2								-20.000000	1	1	121126	1	24	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CREB3L4	148327	broad.mit.edu	37	1	153945234	153945234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153945234C>T	ENST00000368607.3	+	5	824	c.558C>T	c.(556-558)acC>acT	p.T186T	CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000271889.4_Silent_p.T186T|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000368601.1_Silent_p.T186T|CREB3L4_ENST00000468845.1_3'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4			13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		CCTGTCAAACCCTGTTCCTGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000368607.3	1	1	hg19	CCDS1056.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	1	0	1	40	160	0	44	1	9.999999e-01	54	53	0	44	2		0	0	0	0	0	2	1	1	39	155	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JTB	10899	broad.mit.edu	37	1	153947167	153947167	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153947167G>A	ENST00000271843.4	-	5	864	c.429C>T	c.(427-429)atC>atT	p.I143I	JTB_ENST00000368589.1_Silent_p.I114I|JTB_ENST00000471173.1_5'Flank|JTB_ENST00000356648.1_Silent_p.I114I	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint			10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		ATATGGACTCGATTTGCTTCC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000271843.4	1	1	hg19	CCDS1057.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	1	0	0	59	624	0	148	1	1	172	1233	0	148	2		0	0	0	0	0	2	1	1	56	617	0	144	2								-14.927770	1	1	121412	2	38	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.850000	1.000000	1.000000	0.985267	0.990000	1	9.700000e-01	1
RAB13	5872	broad.mit.edu	37	1	153956050	153956050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153956050C>T	ENST00000368575.3	-	3	308	c.193G>A	c.(193-195)Gct>Act	p.A65T	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family			11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		TCTTGGCCAGCCGTGTCCCTA	0.443000													Ovarian(138;395 2427 24306 43415)											0							SO:0001583	missense			ENST00000368575.3	1	1	hg19	CCDS1058.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593984	0.96602	.	.	ENSG00000143545	ENST00000368575	D	0.88741	-2.42	5.54	5.54	0.83059	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.995;0.997	D	0.96841	0.9618	10	0.87932	D	0	.	17.0271	0.86450	0.0:1.0:0.0:0.0	.	65;65	D3DV69;P51153	.;RAB13_HUMAN	T	65	ENSP00000357564:A65T	ENSP00000357564:A65T	A	-	1	0	RAB13	152222674	1.000000	0.71417	0.979000	0.43373	0.933000	0.57130	7.199000	0.77831	2.890000	0.99128	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	1	0	1	36	147	0	42	1	1	224	678	0	42	2		0	0	0	0	0	2	1	1	36	140	0	41	2								-3.607258	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPS27	6232	broad.mit.edu	37	1	153964128	153964128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153964128G>T	ENST00000368567.4	+	3	240	c.202G>T	c.(202-204)Gga>Tga	p.G68*	RPS27_ENST00000392558.4_3'UTR|RPS27_ENST00000493224.1_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27			1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		CCAGCCTACAGGAGGAAAAGC	0.413000																								0							SO:0001587	stop_gained			ENST00000368567.4	0	1	hg19	CCDS1059.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242058	0.79912	.	.	ENSG00000177954	ENST00000368567	.	.	.	5.35	5.35	0.76521	.	0.116646	0.31809	N	0.007037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.7422	17.8155	0.88632	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000357555:G68X	G	+	1	0	RPS27	152230752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.456000	0.97628	2.494000	0.84150	0.462000	0.41574	GGA		TCGA-IB-7651-01A-11D-2154-08	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1	0	0	0	6	233	0	46	1	1	321	7149	0	46	2		0	0	0	0	0	2	1	9.631916e-01	6	228	0	48	2								-3.275612	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.340000	0.140000	0.650000	0.310000	0.365706	0.340000	0	2.200000e-01	4.900000e-01
NUP210L	91181	broad.mit.edu	37	1	153991470	153991470	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153991470C>A	ENST00000368559.3	-	33	4663	c.4592G>T	c.(4591-4593)aGg>aTg	p.R1531M	NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M|NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like			80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		CCCCGGACTCCTGGCCACTCC	0.428000																								0							SO:0001583	missense			ENST00000368559.3	1	1	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372609	0.82573	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.25579	3.4;1.79;3.13	5.61	5.61	0.85477	.	0.084000	0.48286	D	0.000199	T	0.30510	0.0767	M	0.69358	2.11	0.36448	D	0.865884	D;D	0.76494	0.999;0.999	P;P	0.61328	0.862;0.887	T	0.11372	-1.0590	10	0.33940	T	0.23	-6.8879	9.0841	0.36570	0.0:0.8717:0.0:0.1283	.	1531;1531	E7EP56;Q5VU65	.;P210L_HUMAN	M	1531;464;1531	ENSP00000357547:R1531M;ENSP00000357541:R464M;ENSP00000271854:R1531M	ENSP00000271854:R1531M	R	-	2	0	NUP210L	152258094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.903000	0.39858	2.631000	0.89168	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	1	0	1	71	360	0	74		0	0	0	0	74	2	1	1	132	802	0	754	2	1	1	70	357	0	74	2								-3.237021	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP210L	91181	broad.mit.edu	37	1	153998021	153998021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153998021G>A	ENST00000368559.3	-	30	4190	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V	NUP210L_ENST00000368553.1_Silent_p.V306V|NUP210L_ENST00000271854.3_Silent_p.V1373V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like			80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		AACTCACCTGGACCCCAGTTA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000368559.3	1	1	hg19	CCDS41399.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	1	0	1	117	654	0	185	0	0	0	1	0	185	2	1	1	78	399	0	372	2	1	1	116	636	0	184	2								-20.000000	1	1	120802	1	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP210L	91181	broad.mit.edu	37	1	154026854	154026854	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154026854T>G	ENST00000368559.3	-	25	3404	c.3333A>C	c.(3331-3333)caA>caC	p.Q1111H	NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H|NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like			80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		GAACGATGGATTGGGGCTGGG	0.458000																								0							SO:0001583	missense			ENST00000368559.3	1	1	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622680	0.66787	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.43688	0.94;0.94;0.94	5.03	-4.47	0.03525	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.000000	0.56097	D	0.000024	T	0.45776	0.1359	M	0.75447	2.3	0.31872	N	0.619558	D;D	0.76494	0.998;0.999	D;D	0.87578	0.993;0.998	T	0.56111	-0.8033	10	0.49607	T	0.09	-15.7413	13.811	0.63264	0.0:0.5615:0.0:0.4385	.	1111;1111	E7EP56;Q5VU65	.;P210L_HUMAN	H	1111;44;1111	ENSP00000357547:Q1111H;ENSP00000357541:Q44H;ENSP00000271854:Q1111H	ENSP00000271854:Q1111H	Q	-	3	2	NUP210L	152293478	0.006000	0.16342	0.859000	0.33776	0.958000	0.62258	-1.428000	0.02439	-0.754000	0.04715	-0.371000	0.07208	CAA		TCGA-IB-7651-01A-11D-2154-08	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	1	0	1	112	325	0	63		0	0	0	0	63	2	1	1	217	673	0	794	2	1	1	108	317	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP210L	91181	broad.mit.edu	37	1	154062023	154062023	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154062023A>C	ENST00000368559.3	-	16	2306	c.2235T>G	c.(2233-2235)agT>agG	p.S745R	NUP210L_ENST00000271854.3_Missense_Mutation_p.S745R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like			80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		CTACAGCTGGACTAGGGTTCA	0.483000																								0							SO:0001583	missense			ENST00000368559.3	0	1	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636657	0.67130	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23552	1.9;1.9	4.56	0.898	0.19264	.	0.206970	0.34338	N	0.004041	T	0.16385	0.0394	L	0.44542	1.39	0.32872	D	0.509353	D;D	0.64830	0.994;0.993	P;P	0.59288	0.829;0.855	T	0.05084	-1.0907	10	0.26408	T	0.33	-25.0072	7.3792	0.26845	0.621:0.0:0.379:0.0	.	745;745	E7EP56;Q5VU65	.;P210L_HUMAN	R	745	ENSP00000357547:S745R;ENSP00000271854:S745R	ENSP00000271854:S745R	S	-	3	2	NUP210L	152328647	0.481000	0.25941	1.000000	0.80357	0.991000	0.79684	0.314000	0.19432	0.278000	0.22164	0.377000	0.23210	AGT		TCGA-IB-7651-01A-11D-2154-08	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	0	0	0	12	528	0	108		0	0	0	0	108	2	1	9.999990e-01	21	1296	0	1224	2	1	9.990032e-01	12	516	0	108	2								-10.204090	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.290000	0.150000	0.470000	0.280000	0.304319	0.290000	0	2.100000e-01	3.800000e-01
TPM3	7170	broad.mit.edu	37	1	154142946	154142946	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154142946C>A	ENST00000368530.2	-	8	898		c.e8-1		TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000469717.1_Splice_Site|TPM3_ENST00000368533.3_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000271850.7_Splice_Site|TPM3_ENST00000302206.5_Splice_Site	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)				GGGTCTCTGCCTGGGGGAAAT	0.448000			T	NTRK1, ALK, ROS1	papillary thyroid, ALCL, NSCLC										Dom	yes		1	1q22-q23	7170	tropomyosin 3		E, L	0							SO:0001630	splice_region_variant			ENST00000368530.2	0	1	hg19	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107705	0.77096	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1897	0.89803	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPM3	152409570	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.616000	0.83018	2.601000	0.87937	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	0	0	0	14	534	0	85	0	7.443490e-03	0	5	0	85	2		0	0	0	0	0	2	1	9.996905e-01	14	515	0	83	2								-3.056232	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.330000	0.180000	0.520000	0.330000	0.346061	0.330000	0	2.500000e-01	4.300000e-01
C1orf43	25912	broad.mit.edu	37	1	154184951	154184951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154184951C>T	ENST00000368521.5	-	5	688	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T|C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43			10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)				CCATAGCGGGCTGTTTCATAG	0.488000																								0							SO:0001583	missense			ENST00000368521.5	1	1	hg19	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239370	0.79800	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	Dehydrogenase, multihelical (1);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.80616	2.505	0.80722	D	1	P;P;D;B;P	0.63880	0.801;0.801;0.993;0.361;0.834	B;B;D;B;P	0.63703	0.434;0.434;0.917;0.133;0.57	T	0.78763	-0.2077	9	0.87932	D	0	-17.7958	18.3255	0.90252	0.0:1.0:0.0:0.0	.	146;130;164;112;130	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	T	130;164;112;146;164;130	.	ENSP00000271925:A130T	A	-	1	0	C1orf43	152451575	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.017000	0.76399	2.814000	0.96858	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	1	0	1	146	361	0	90	1	1	428	726	0	90	2		0	0	0	0	0	2	1	1	142	354	0	90	2								-9.162050	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf43	25912	broad.mit.edu	37	1	154185064	154185064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154185064G>A	ENST00000368521.5	-	5	575	c.377C>T	c.(376-378)tCc>tTc	p.S126F	C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F|C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43			10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)				GCCCATTAAGGAACGGGGATG	0.443000																								0							SO:0001583	missense			ENST00000368521.5	1	1	hg19	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450681	0.26074	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	3.5	0.40072	.	0.105696	0.64402	D	0.000003	T	0.43211	0.1237	L	0.60455	1.87	0.50039	D	0.999843	B;B;B;B;B	0.24258	0.028;0.082;0.089;0.008;0.1	B;B;B;B;B	0.29942	0.027;0.039;0.109;0.01;0.066	T	0.48758	-0.9007	9	0.59425	D	0.04	-18.5473	9.4956	0.38986	0.0739:0.0:0.7829:0.1433	.	108;92;126;74;92	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	F	92;126;74;108;126;92	.	ENSP00000271925:S92F	S	-	2	0	C1orf43	152451688	1.000000	0.71417	0.990000	0.47175	0.313000	0.28021	6.720000	0.74723	0.820000	0.34516	-0.302000	0.09304	TCC		TCGA-IB-7651-01A-11D-2154-08	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	1	0	1	24	267	0	68	1	1	155	1031	0	68	2		0	0	0	0	0	2	1	9.999997e-01	24	262	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.700000	1.000000	1.000000	0.952573	0.990000	1	8.600000e-01	1
UBAP2L	9898	broad.mit.edu	37	1	154232488	154232488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154232488C>T	ENST00000361546.2	+	21	2603	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A854V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like			50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		GGTAGCCTGGCCAGCAACCCT	0.473000																								0							SO:0001583	missense			ENST00000361546.2	1	1	hg19	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798759	0.70567	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.06	5.06	0.68205	.	0.183950	0.47852	D	0.000212	T	0.38558	0.1045	L	0.48642	1.525	0.37479	D	0.915909	D;B;B;B;P;B;P	0.57257	0.979;0.069;0.039;0.039;0.634;0.008;0.94	P;B;B;B;B;B;P	0.58130	0.833;0.037;0.023;0.023;0.204;0.015;0.771	T	0.30090	-0.9990	10	0.87932	D	0	-4.4735	13.9417	0.64059	0.0:0.8354:0.1646:0.0	.	768;865;847;854;350;854;854	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157	.;.;.;.;.;.;UBP2L_HUMAN	V	854;854;350;350;865;854	ENSP00000345308:A854V;ENSP00000389445:A854V;ENSP00000271877:A865V;ENSP00000355343:A854V	ENSP00000271877:A865V	A	+	2	0	UBAP2L	152499112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.621000	0.88768	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	1	0	1	67	418	0	74	1	1	91	351	0	74	2		0	0	0	0	0	2	1	1	64	409	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL6R	3570	broad.mit.edu	37	1	154401729	154401729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154401729C>T	ENST00000368485.3	+	2	580	c.143C>T	c.(142-144)cCg>cTg	p.P48L	IL6R_ENST00000344086.4_Missense_Mutation_p.P48L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor		IL6R/ATP8B2(2)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)	Tocilizumab(DB06273)	CTGACCTGCCCGGGGGTAGAG	0.637000																								0							SO:0001583	missense			ENST00000368485.3	0	1	hg19	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	C	3.209	-0.162064	0.06502	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.17213	2.29;2.7;2.7	4.85	2.83	0.33086	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.223860	0.05530	N	0.563856	T	0.03477	0.0100	L	0.29908	0.895	0.42816	D	0.993973	P;P	0.47962	0.903;0.844	B;B	0.30646	0.118;0.055	T	0.51679	-0.8675	10	0.23891	T	0.37	-11.0365	6.0098	0.19569	0.0:0.7644:0.0:0.2356	.	48;48	P08887-2;P08887	.;IL6RA_HUMAN	L	48	ENSP00000357470:P48L;ENSP00000340589:P48L;ENSP00000423184:P48L	ENSP00000340589:P48L	P	+	2	0	IL6R	152668353	0.383000	0.25156	0.851000	0.33527	0.021000	0.10359	0.507000	0.22675	1.268000	0.44264	-0.258000	0.10820	CCG		TCGA-IB-7651-01A-11D-2154-08	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	0	0	0	11	489	0	104	1	7.763187e-02	3	16	0	104	2		0	0	0	0	0	2	1	9.982126e-01	11	481	0	103	2								-2.401831	0	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.280000	0.150000	0.480000	0.270000	0.303146	0.280000	0	2.100000e-01	3.900000e-01
IL6R	3570	broad.mit.edu	37	1	154420626	154420626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154420626C>T	ENST00000368485.3	+	7	1412	c.975C>T	c.(973-975)aaC>aaT	p.N325N	IL6R_ENST00000344086.4_Silent_p.N325N|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor		IL6R/ATP8B2(2)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)	Tocilizumab(DB06273)	CAGCTGAGAACGAGGTGTCCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000368485.3	1	1	hg19	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	C	2.700	-0.271183	0.05716	0.0	1.16E-4	ENSG00000160712	ENST00000476006;ENST00000515190	.	.	.	3.96	-7.93	0.01156	.	.	.	.	.	T	0.09598	0.0236	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15263	-1.0443	4	.	.	.	0.1431	7.4401	0.27179	0.0:0.2439:0.4064:0.3497	.	.	.	.	M	264;128	.	.	T	+	2	0	IL6R	152687250	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.845000	0.00735	-2.316000	0.00645	-0.819000	0.03115	ACG		TCGA-IB-7651-01A-11D-2154-08	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	0	0	0	17	527	0	97	0	1.307641e-01	0	19	0	97	2		0	0	0	0	0	2	1	9.999594e-01	17	516	0	97	2								-3.235551	1	1	121412	2	35	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.400000	0.240000	0.610000	0.390000	0.418300	0.400000	0	3.100000e-01	5.100000e-01
IL6R	3570	broad.mit.edu	37	1	154437670	154437670	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154437670G>A	ENST00000368485.3	+	10	1658	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	IL6R_ENST00000344086.4_3'UTR|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor		IL6R/ATP8B2(2)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)	Tocilizumab(DB06273)	TGCATCCGCCGTACTCTTTGG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000368485.3	1	1	hg19	CCDS1067.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	1	0	1	91	403	0	86	1	9.736214e-01	3	25	0	86	2		0	0	0	0	0	2	1	1	88	392	0	81	2								-3.114993	1	1	121412	5	40	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNB2	1141	broad.mit.edu	37	1	154544331	154544331	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154544331C>A	ENST00000368476.3	+	5	1296	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)			28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)	Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	AGAAGCTGCCCGCGCTGCTCT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000368476.3	0	1	hg19	CCDS1070.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	0	0	0	6	116	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	9.634682e-01	6	113	0	18	2								-3.353990	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.660000	0.280000	1.000000	1.000000	0.679932	0.660000	0	4.400000e-01	9.400000e-01
ADAR	103	broad.mit.edu	37	1	154569664	154569664	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154569664C>T	ENST00000368474.4	-	5	2213	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ADAR_ENST00000368471.3_Missense_Mutation_p.A377T|ADAR_ENST00000292205.5_Missense_Mutation_p.A715T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific			51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)		TCCTCTGCGGCCATCTGCTTT	0.532000																								0							SO:0001583	missense			ENST00000368474.4	1	1	hg19	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	36	5.771357	0.96922	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97553	1.0093	10	0.66056	D	0.02	-17.8525	19.4276	0.94749	0.0:1.0:0.0:0.0	.	672;672;672	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	T	715;672;377;667	ENSP00000292205:A715T;ENSP00000357459:A672T;ENSP00000357456:A377T;ENSP00000431794:A667T	ENSP00000292205:A715T	A	-	1	0	ADAR	152836288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.813000	0.96785	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	1	0	1	65	336	0	68	1	1	153	542	0	68	2		0	0	0	0	0	2	1	1	64	330	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAR	103	broad.mit.edu	37	1	154574527	154574527	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154574527G>A	ENST00000368474.4	-	2	790	c.591C>T	c.(589-591)atC>atT	p.I197I	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Silent_p.I240I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	p.I197I(1)		51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)		TGGAGACCGCGATTTTCCACA	0.522000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000368474.4	1	1	hg19	CCDS1071.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	1	0	1	201	640	0	143	1	1	192	404	0	143	2	1	1.450735e-01	2	1	0	2	2	1	1	198	628	0	142	2								-20.000000	1	1	121412	4	41	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAR	103	broad.mit.edu	37	1	154575024	154575024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154575024G>A	ENST00000368474.4	-	2	293	c.94C>T	c.(94-96)Cca>Tca	p.P32S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific			51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)		GAAGATCCTGGCCCAGGCTGC	0.522000																								0							SO:0001583	missense			ENST00000368474.4	1	1	hg19	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401588	0.25291	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.10960	2.82;2.83;2.84	4.56	1.43	0.22495	.	2.127140	0.01524	N	0.018491	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.20671	0.047;0.002;0.002;0.001	B;B;B;B	0.15484	0.013;0.005;0.005;0.003	T	0.38845	-0.9642	10	0.15952	T	0.53	0.7111	6.0133	0.19588	0.1653:0.0:0.6847:0.15	.	32;32;32;32	A2IBT1;P55265-3;P55265-2;P55265	.;.;.;DSRAD_HUMAN	S	75;32;27	ENSP00000292205:P75S;ENSP00000357459:P32S;ENSP00000431794:P27S	ENSP00000292205:P75S	P	-	1	0	ADAR	152841648	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.689000	0.25437	0.191000	0.20236	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	1	0	1	68	259	0	49	1	1	91	208	0	49	2	0	0	0	1	0	0	2	1	1	67	255	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNN3	3782	broad.mit.edu	37	1	154744644	154744644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154744644C>T	ENST00000271915.4	-	3	1570	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T|KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3			28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)	Miconazole(DB01110)|Procaine(DB00721)	ATGACTCGGGCGATCAGGTAC	0.602000																								0							SO:0001583	missense			ENST00000271915.4	1	1	hg19	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729773	0.89390	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.23950	1.88;1.88;1.88	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000044	T	0.30448	0.0765	L	0.60455	1.87	0.52501	D	0.999951	D;D;P	0.67145	0.996;0.969;0.861	P;P;P	0.53035	0.716;0.493;0.473	T	0.08006	-1.0743	10	0.62326	D	0.03	-14.5979	17.3493	0.87318	0.0:1.0:0.0:0.0	.	425;424;114	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	T	114;419;106	ENSP00000354764:A114T;ENSP00000271915:A419T;ENSP00000351295:A106T	ENSP00000271915:A419T	A	-	1	0	KCNN3	153011268	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.647000	0.83462	2.413000	0.81919	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	1	0	1	92	313	0	71	0	9.719000e-01	0	22	0	71	2		0	0	0	0	0	2	1	1	91	309	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYGO2	90780	broad.mit.edu	37	1	154932183	154932183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932183G>T	ENST00000368457.2	-	3	464	c.293C>A	c.(292-294)cCt>cAt	p.P98H	PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2			10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		GAAGGGCACAGGACTGCCAAG	0.642000													NSCLC(87;357 1460 1955 21029 23522)											0							SO:0001583	missense			ENST00000368457.2	1	1	hg19	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028263	0.54790	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.57107	0.42;0.47	4.85	3.93	0.45458	.	0.839882	0.10411	N	0.677871	T	0.44850	0.1313	N	0.19112	0.55	0.44555	D	0.997518	D	0.89917	1.0	D	0.65987	0.94	T	0.39961	-0.9588	10	0.36615	T	0.2	-0.378	13.4807	0.61334	0.0:0.0:0.8419:0.1581	.	98	Q9BRQ0	PYGO2_HUMAN	H	98;61	ENSP00000357442:P98H;ENSP00000357441:P61H	ENSP00000357441:P61H	P	-	2	0	PYGO2	153198807	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	6.143000	0.71756	1.256000	0.44068	0.455000	0.32223	CCT		TCGA-IB-7651-01A-11D-2154-08	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	1	0	0	36	152	0	37	1	9.999999e-01	30	88	0	37	2		0	0	0	0	0	2	1	1	36	148	0	34	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYGO2	90780	broad.mit.edu	37	1	154932251	154932251	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932251G>A	ENST00000368457.2	-	3	396	c.225C>T	c.(223-225)tcC>tcT	p.S75S	PYGO2_ENST00000368456.1_Silent_p.S38S|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2			10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		CAAAAGGGTTGGATGCAACCA	0.582000													NSCLC(87;357 1460 1955 21029 23522)											0							SO:0001819	synonymous_variant			ENST00000368457.2	1	1	hg19	CCDS1075.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	1	0	1	47	117	0	35	1	1	43	61	0	35	2		0	0	0	0	0	2	1	1	45	116	0	35	2								-5.793188	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLAD1	80308	broad.mit.edu	37	1	154960890	154960890	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154960890C>T	ENST00000292180.3	+	2	1004	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C|FLAD1_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368432.1_Missense_Mutation_p.R131C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C|FLAD1_ENST00000368433.1_Missense_Mutation_p.R228C	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1			22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		CTCCTCTGCCCGCCTGCATTA	0.562000																								0							SO:0001583	missense			ENST00000292180.3	0	1	hg19	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594311	0.66219	2.27E-4	0.0	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	5.81	2.94	0.34122	Molybdopterin binding (4);	0.118328	0.56097	N	0.000029	T	0.55609	0.1931	M	0.71036	2.16	0.47214	D	0.999354	D;B	0.76494	0.999;0.109	D;B	0.64877	0.93;0.016	T	0.60214	-0.7307	9	0.59425	D	0.04	-14.8284	3.0349	0.06118	0.1217:0.5542:0.1184:0.2057	.	228;129	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	C	228;131;131;129;228;129	.	ENSP00000292180:R228C	R	+	1	0	FLAD1	153227514	0.951000	0.32395	1.000000	0.80357	0.885000	0.51271	1.567000	0.36407	0.823000	0.34589	-0.369000	0.07265	CGC		TCGA-IB-7651-01A-11D-2154-08	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	0	0	0	8	472	0	76	1	7.313980e-01	3	148	0	76	2		0	0	0	0	0	2	1	9.880390e-01	7	459	0	75	2								-3.779356	1	0	121412	1	34	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.220000	0.100000	0.400000	0.210000	0.236727	0.220000	0	1.500000e-01	3.100000e-01
ZBTB7B	51043	broad.mit.edu	37	1	154988148	154988148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154988148C>T	ENST00000368426.3	+	3	1149	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B			29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		CAAGCTGGTGCGCAAACGCCG	0.607000																								0							SO:0001583	missense			ENST00000368426.3	1	1	hg19	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.521512	0.64747	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.11063	2.84;2.84;2.81;2.84	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.29908	0.895	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	T	0.01626	-1.1309	10	0.87932	D	0	.	9.1092	0.36716	0.2183:0.7817:0.0:0.0	.	338;338;372	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	338;338;372;338	ENSP00000438647:R338C;ENSP00000357411:R338C;ENSP00000406286:R372C;ENSP00000292176:R338C	ENSP00000292176:R338C	R	+	1	0	ZBTB7B	153254772	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.168000	0.31859	2.109000	0.64355	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	1	0	1	90	230	0	53	1	1	85	127	0	53	2		0	0	0	0	0	2	1	1	88	226	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCST2	127579	broad.mit.edu	37	1	154999185	154999185	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154999185A>G	ENST00000368424.3	-	9	1407	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2			38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		AGACACCAACACAGGACCTGG	0.502000																								0							SO:0001583	missense			ENST00000368424.3	1	1	hg19	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	11.04	1.521824	0.27211	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.27720	1.65;1.65	4.82	4.82	0.62117	Dendritic cell-specific transmembrane protein-like (1);	0.089835	0.42821	D	0.000654	T	0.13114	0.0318	L	0.36672	1.1	0.31072	N	0.712902	D	0.57571	0.98	P	0.49752	0.621	T	0.02156	-1.1204	10	0.06236	T	0.91	-27.98	11.9283	0.52833	1.0:0.0:0.0:0.0	.	450	Q5T1A1	DCST2_HUMAN	A	450	ENSP00000357409:V450A;ENSP00000295536:V450A	ENSP00000295536:V450A	V	-	2	0	DCST2	153265809	0.708000	0.27876	0.385000	0.26158	0.919000	0.55068	3.395000	0.52558	1.803000	0.52742	0.402000	0.26972	GTG		TCGA-IB-7651-01A-11D-2154-08	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	1	0	1	42	266	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	40	260	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
DCST1	149095	broad.mit.edu	37	1	155020587	155020587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155020587G>A	ENST00000295542.1	+	16	1906	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	DCST1_ENST00000392480.1_Missense_Mutation_p.A604T|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T|DCST1_ENST00000423025.2_Missense_Mutation_p.A579T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1			27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)		GAAAAGAGCAGCCTTCACCAA	0.572000																								0							SO:0001583	missense			ENST00000295542.1	1	1	hg19	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657818	0.67586	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.21543	2.0;2.02;2.0;2.02	4.8	4.8	0.61643	.	0.593582	0.16979	N	0.191770	T	0.08133	0.0203	L	0.43923	1.385	0.32777	N	0.502987	P;P	0.36733	0.567;0.567	B;B	0.33196	0.159;0.159	T	0.14448	-1.0472	10	0.13470	T	0.59	-25.4752	15.3669	0.74529	0.0:0.0:1.0:0.0	.	579;604	E9PHV3;Q5T197	.;DCST1_HUMAN	T	604;604;579;604	ENSP00000295542:A604T;ENSP00000376271:A604T;ENSP00000387369:A579T;ENSP00000357404:A604T	ENSP00000295542:A604T	A	+	1	0	DCST1	153287211	0.943000	0.32029	0.997000	0.53966	0.853000	0.48598	2.215000	0.42862	2.481000	0.83766	0.586000	0.80456	GCC		TCGA-IB-7651-01A-11D-2154-08	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	1	0	1	67	171	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	65	164	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM15	8751	broad.mit.edu	37	1	155028286	155028286	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155028286G>A	ENST00000356955.2	+	7	734	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ADAM15_ENST00000355956.2_Silent_p.E211E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000368412.3_Silent_p.E211E|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15			39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)		TGGTAACAGAGACCAAGACTG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000356955.2	1	1	hg19	CCDS1087.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	0	0	0	14	571	0	112	1	9.670454e-01	4	230	0	112	2		0	0	0	0	0	2	1	9.997015e-01	12	556	0	111	2								-3.433975	1	1	121412	1	31	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.310000	0.170000	0.490000	0.300000	0.324370	0.310000	0	2.300000e-01	4.000000e-01
EFNA1	1942	broad.mit.edu	37	1	155104109	155104109	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155104109C>A	ENST00000368407.3	+	2	905	c.387C>A	c.(385-387)atC>atA	p.I129I	EFNA1_ENST00000368406.2_Splice_Site_p.I129I|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1			5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		ACTACTACATCTGTGAGTGCC	0.522000																								0							SO:0001630	splice_region_variant			ENST00000368407.3	1	0	hg19	CCDS1091.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	1	0	1	54	151	0	38	1	1	112	205	0	38	2		0	0	0	0	0	2	1	1	52	149	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPM3	54344	broad.mit.edu	37	1	155112460	155112460	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155112460G>A	ENST00000341298.3	-	2	392	c.257C>T	c.(256-258)gCc>gTc	p.A86V	DPM3_ENST00000368400.4_Missense_Mutation_p.A86V|DPM3_ENST00000368399.1_Missense_Mutation_p.A116V			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3			2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		CCCCCTGCGGGCTAAGTCGGC	0.587000																								0							SO:0001583	missense			ENST00000341298.3	1	1	hg19	CCDS1095.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569405	0.45798	.	.	ENSG00000179085	ENST00000368399;ENST00000368400;ENST00000341298	T;T;T	0.77489	-1.1;-1.1;-1.1	4.8	2.93	0.34026	.	0.496026	0.21280	N	0.077179	T	0.64472	0.2601	L	0.50333	1.59	0.32035	N	0.598941	B;D	0.53312	0.062;0.959	B;P	0.49922	0.081;0.626	T	0.60352	-0.7280	10	0.39692	T	0.17	0.0123	8.8551	0.35223	0.1834:0.0:0.8166:0.0	.	86;162	Q9P2X0;B4DEH1	DPM3_HUMAN;.	V	116;86;86	ENSP00000357384:A116V;ENSP00000357385:A86V;ENSP00000344338:A86V	ENSP00000344338:A86V	A	-	2	0	DPM3	153379084	0.241000	0.23857	0.840000	0.33206	0.821000	0.46438	0.524000	0.22940	0.635000	0.30488	-0.140000	0.14226	GCC		TCGA-IB-7651-01A-11D-2154-08	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085519.1	1	0	1	120	461	0	91	1	1	53	116	0	91	2		0	0	0	0	0	2	1	1	119	451	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM46	80128	broad.mit.edu	37	1	155148076	155148076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155148076G>A	ENST00000334634.4	+	2	278	c.278G>A	c.(277-279)cGc>cAc	p.R93H	RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H|TRIM46_ENST00000392451.2_Missense_Mutation_p.R93H|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46			29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		CGCCTCTCCCGCAGAACTCTC	0.657000																								0							SO:0001583	missense			ENST00000334634.4	1	1	hg19	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183414	0.78677	0.0	1.18E-4	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60548	0.75;0.49;0.68;0.43;0.18;0.23	4.54	4.54	0.55810	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.70275	2.135	0.80722	D	1	D;D;P;B;D;D	0.89917	0.999;1.0;0.946;0.403;1.0;1.0	D;D;B;B;D;D	0.85130	0.991;0.991;0.347;0.025;0.991;0.997	T	0.69308	-0.5179	10	0.44086	T	0.13	.	15.1629	0.72798	0.0:0.0:1.0:0.0	.	80;93;80;70;93;93	F5H5Z2;Q5VT61;B7Z3S2;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;.;TRI46_HUMAN;.	H	100;80;93;93;93;70;93	ENSP00000442719:R100H;ENSP00000357369:R93H;ENSP00000376245:R93H;ENSP00000357367:R93H;ENSP00000357366:R70H;ENSP00000334657:R93H	ENSP00000334657:R93H	R	+	2	0	TRIM46	153414700	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	5.694000	0.68272	2.227000	0.72691	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	1	0	1	90	519	0	113	0	6.037386e-02	0	3	0	113	2		0	0	0	0	0	2	1	1	83	442	0	79	2								-3.017977	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM46	80128	broad.mit.edu	37	1	155154489	155154489	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155154489G>A	ENST00000334634.4	+	9	1750	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.D561N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46			29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		GGTCCTGGGCGACGTGGCTGT	0.667000																								0							SO:0001583	missense			ENST00000334634.4	1	1	hg19	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875559	0.72180	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.61040	0.14;2.54;0.14;0.14	4.06	4.06	0.47325	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.072502	0.53938	D	0.000049	T	0.60353	0.2262	L	0.53249	1.67	0.49483	D	0.999795	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55528	-0.8127	10	0.20519	T	0.43	.	14.1186	0.65172	0.0:0.0:1.0:0.0	.	584;584	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	N	542;458;584;561;584	ENSP00000440254:D458N;ENSP00000357367:D584N;ENSP00000357366:D561N;ENSP00000334657:D584N	ENSP00000334657:D584N	D	+	1	0	TRIM46	153421113	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.851000	0.92205	2.285000	0.76669	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	1	0	0	13	192	0	36	0	1.388533e-02	0	3	0	36	2		0	0	0	0	0	2	1	9.995437e-01	13	189	0	36	2								-16.937990	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.820000	0.460000	1.000000	1.000000	0.814421	0.820000	0	6.200000e-01	1
MUC1	4582	broad.mit.edu	37	1	155160512	155160512	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155160512A>T	ENST00000368395.1	-	4	987	c.916T>A	c.(916-918)Ttt>Att	p.F306I	RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated			10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		AGGCCCAGAAAACCCCCTTGT	0.532000			T	IGH@	B-NHL										Dom	yes		1	1q21	4582	mucin 1, transmembrane		L	0							SO:0001583	missense			ENST00000368395.1	1	1	hg19	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013268	0.75161	.	.	ENSG00000185499	ENST00000368395;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000368393;ENST00000425082;ENST00000368390;ENST00000337604	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.33	4.33	0.51752	.	0.000000	0.36932	N	0.002340	T	0.53610	0.1807	M	0.75264	2.295	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;B;B;P;B;D;D;D;D;B;P	0.71674	0.991;0.982;0.992;0.984;0.983;0.998;0.996;0.993;0.975;0.959;0.273;0.053;0.871;0.094;0.997;0.979;0.987;0.994;0.005;0.845	P;P;P;P;D;D;D;D;P;P;B;B;P;B;D;P;P;P;B;D	0.74023	0.854;0.819;0.865;0.786;0.945;0.982;0.959;0.942;0.882;0.755;0.16;0.16;0.622;0.226;0.917;0.87;0.864;0.89;0.025;0.931	T	0.50329	-0.8841	10	0.72032	D	0.01	-12.3831	9.9079	0.41388	1.0:0.0:0.0:0.0	.	1095;86;1083;104;1074;113;392;392;306;113;72;69;74;48;95;104;104;95;60;86	P15941-2;B6ECB2;P15941-3;P15941-8;P15941-4;B6ECA3;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID6;A5YRV0;A5YRU8;A5YRV2;A5YRU7;A6ZID9;B1AVR0;Q0VAP5;B1AVQ7;Q0VAP6	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	306;95;60;95;104;392;86;104	ENSP00000357380:F306I;ENSP00000357377:F95I;ENSP00000389098:F60I;ENSP00000388172:F95I;ENSP00000357378:F104I;ENSP00000357375:F86I;ENSP00000338983:F104I	ENSP00000338983:F104I	F	-	1	0	MUC1	153427136	0.001000	0.12720	0.059000	0.19551	0.222000	0.24845	0.840000	0.27600	1.606000	0.50161	0.383000	0.25322	TTT		TCGA-IB-7651-01A-11D-2154-08	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	1	0	1	221	655	0	184	1	1	1535	693	0	184	2		0	0	0	0	0	2	1	1	214	640	0	183	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLK2	1196	broad.mit.edu	37	1	155234050	155234050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155234050G>A	ENST00000368361.4	-	11	1503	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	CLK2_ENST00000361168.5_Silent_p.I395I|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000536801.1_Silent_p.I396I|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.I394I|SCAMP3_ENST00000355379.3_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2			22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		TAGGACCCAAGATCCTTTCCA	0.468000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000368361.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	1	0	1	60	317	0	69	1	1	31	109	0	69	2		0	0	0	0	0	2	1	1	60	310	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLK2	1196	broad.mit.edu	37	1	155236524	155236524	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155236524G>A	ENST00000368361.4	-	7	1149	c.834C>T	c.(832-834)gtC>gtT	p.V278V	CLK2_ENST00000361168.5_Silent_p.V277V|CLK2_ENST00000536801.1_Silent_p.V278V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.V276V			P49760	CLK2_HUMAN	CDC-like kinase 2			22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		ACTCACACTTGACAGCCTGGC	0.572000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000368361.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	1	0	1	54	147	0	50	1	1	56	120	0	50	2		0	0	0	0	0	2	1	1	53	145	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKLR	5313	broad.mit.edu	37	1	155264395	155264395	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155264395G>A	ENST00000342741.4	-	6	881	c.843C>T	c.(841-843)gaC>gaT	p.D281D	PKLR_ENST00000392414.3_Silent_p.D250D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC			35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)	Pyruvic acid(DB00119)	CAAAGACGATGTCCACCCCAT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000342741.4	1	1	hg19	CCDS1109.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	1	0	0	29	331	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	29	327	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.710000	1.000000	1.000000	0.949642	0.990000	1	8.600000e-01	1
PKLR	5313	broad.mit.edu	37	1	155265358	155265358	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155265358T>C	ENST00000342741.4	-	4	415	c.377A>G	c.(376-378)tAc>tGc	p.Y126C	PKLR_ENST00000392414.3_Splice_Site_p.Y95C	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC			35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)	Pyruvic acid(DB00119)	CTCAGCATGGTACTGGGGGAG	0.692000																								0							SO:0001630	splice_region_variant			ENST00000342741.4	1	0	hg19	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868150	0.72065	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99445	-5.91;-5.91	4.25	4.25	0.50352	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.065304	0.64402	D	0.000005	D	0.99576	0.9847	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98139	1.0435	10	0.87932	D	0	-15.2275	11.6206	0.51115	0.0:0.0:0.0:1.0	.	126;117	P30613;B1AVT1	KPYR_HUMAN;.	C	151;95;126;62	ENSP00000376214:Y95C;ENSP00000339933:Y126C	ENSP00000271946:Y62C	Y	-	2	0	PKLR	153531982	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	7.650000	0.83521	1.907000	0.55213	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	1	0	0	21	196	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	9.999980e-01	21	194	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.800000	1.000000	1.000000	0.983995	0.990000	1	9.900000e-01	1
FDPS	2224	broad.mit.edu	37	1	155289473	155289473	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155289473G>A	ENST00000356657.6	+	9	1080	c.918G>A	c.(916-918)caG>caA	p.Q306Q	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000368356.4_Silent_p.Q306Q|FDPS_ENST00000447866.1_Silent_p.Q240Q|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_5'Flank	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase			10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTTCTTTCAGATTCAGGTAA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000356657.6	1	1	hg19	CCDS1110.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	1	0	0	98	437	0	101	1	1	208	519	0	101	2		0	0	0	0	0	2	1	1	95	426	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RUSC1	23623	broad.mit.edu	37	1	155297964	155297964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155297964C>T	ENST00000368352.5	+	9	2589	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)		21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		TGGCTGCCCCCGACAGTGAGT	0.582000																								6	Substitution - Missense(6)						SO:0001583	missense			ENST00000368352.5	1	1	hg19	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317388	0.10845	0.0	1.16E-4	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.29655	2.05;1.99;1.56;1.6;1.6	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000037	T	0.26304	0.0642	L	0.34521	1.04	0.80722	D	1	D;D;D;P;P;D	0.71674	0.997;0.998;0.992;0.937;0.46;0.984	P;P;P;B;B;B	0.60117	0.742;0.869;0.619;0.267;0.234;0.327	T	0.01071	-1.1461	10	0.17832	T	0.49	-16.3888	14.3078	0.66395	0.0:1.0:0.0:0.0	.	311;344;238;403;312;813	B4DQB8;Q9BVN2-2;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;RUSC1_HUMAN	L	707;813;403;344;344	ENSP00000357338:P707L;ENSP00000357336:P813L;ENSP00000357331:P403L;ENSP00000357333:P344L;ENSP00000292254:P344L	ENSP00000292254:P344L	P	+	2	0	RUSC1	153564588	0.916000	0.31088	0.991000	0.47740	0.524000	0.34500	3.985000	0.56930	2.837000	0.97791	0.591000	0.81541	CCG		TCGA-IB-7651-01A-11D-2154-08	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1	1	0	1	364	1011	0	262	1	1	107	147	0	262	2		0	0	0	0	0	2	1	1	355	991	1	260	18								-10.889680	1	1	121412	5	42	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RUSC1	23623	broad.mit.edu	37	1	155300316	155300316	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155300316G>T	ENST00000368352.5	+	10	2814	c.2663G>T	c.(2662-2664)gGc>gTc	p.G888V	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V|RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1			21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		GGGCGGGATGGCATGGAGGGT	0.592000																								0							SO:0001583	missense			ENST00000368352.5	1	1	hg19	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504510	0.64410	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.55	4.55	0.56014	Src homology-3 domain (4);	0.296833	0.24041	N	0.042097	T	0.77994	0.4214	M	0.93978	3.48	0.50467	D	0.999876	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.998;0.99;0.998	D;D;D;D;D;D;D	0.91635	0.969;0.948;0.969;0.999;0.962;0.948;0.957	T	0.81660	-0.0832	10	0.87932	D	0	-16.1287	7.2762	0.26286	0.1519:0.0:0.8481:0.0	.	386;419;419;313;478;387;888	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	V	782;888;478;419;419	ENSP00000357338:G782V;ENSP00000357336:G888V;ENSP00000357331:G478V;ENSP00000357333:G419V;ENSP00000292254:G419V	ENSP00000292254:G419V	G	+	2	0	RUSC1	153566940	0.831000	0.29352	0.943000	0.38184	0.942000	0.58702	2.686000	0.46968	2.518000	0.84900	0.467000	0.42956	GGC		TCGA-IB-7651-01A-11D-2154-08	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1	1	0	1	29	171	0	35	1	1	64	180	0	35	2		0	0	0	0	0	2	1	1	29	169	0	35	2								-15.260920	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
ASH1L	55870	broad.mit.edu	37	1	155313152	155313152	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155313152G>T	ENST00000368346.3	-	24	8900	c.8261C>A	c.(8260-8262)gCt>gAt	p.A2754D	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)			124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		CCCCACTACAGCCTCCAAGGG	0.478000																								0							SO:0001583	missense			ENST00000368346.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	32	5.176866	0.94846	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.86164	-2.08;-2.08	5.3	5.3	0.74995	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89183	0.3545	10	0.56958	D	0.05	.	18.7281	0.91722	0.0:0.0:1.0:0.0	.	2754;2749	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	D	2754;2749	ENSP00000357330:A2754D;ENSP00000376204:A2749D	ENSP00000357330:A2754D	A	-	2	0	ASH1L	153579776	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.623000	0.98386	2.757000	0.94681	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	0	1	68	374	0	89	1	9.999929e-01	15	81	0	89	2		0	0	0	0	0	2	1	1	66	357	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASH1L	55870	broad.mit.edu	37	1	155348095	155348095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155348095G>A	ENST00000368346.3	-	10	6963	c.6324C>T	c.(6322-6324)ggC>ggT	p.G2108G	ASH1L_ENST00000392403.3_Silent_p.G2103G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)			124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		CATCAACACAGCCCTTCCTGG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000368346.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	0	1	236	788	0	184	1	1	24	64	0	184	2		0	0	0	0	0	2	1	1	233	775	0	184	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASH1L	55870	broad.mit.edu	37	1	155408590	155408590	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155408590A>C	ENST00000368346.3	-	5	5995	c.5356T>G	c.(5356-5358)Ttg>Gtg	p.L1786V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)			124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		CTGCTTGTCAACTTTTCAGAT	0.473000																								0							SO:0001583	missense			ENST00000368346.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.55	2.271183	0.40194	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88509	-2.39;-2.39	5.04	5.04	0.67666	.	0.308755	0.23714	N	0.045287	T	0.66616	0.2807	N	0.14661	0.345	0.80722	D	1	B;B	0.21606	0.034;0.058	B;B	0.18871	0.01;0.023	T	0.65043	-0.6264	10	0.24483	T	0.36	.	9.4335	0.38624	0.9199:0.0:0.0801:0.0	.	1786;1786	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	1786	ENSP00000357330:L1786V;ENSP00000376204:L1786V	ENSP00000357330:L1786V	L	-	1	2	ASH1L	153675214	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.828000	0.39111	2.253000	0.74438	0.533000	0.62120	TTG		TCGA-IB-7651-01A-11D-2154-08	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	1	0	1	123	555	0	91	1	9.999528e-01	11	55	0	91	2		0	0	0	0	0	2	1	1	121	546	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM51	55092	broad.mit.edu	37	1	15541680	15541680	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15541680C>A	ENST00000428417.1	+	2	543	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M|TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51			14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)			CATGTGGAACCTGGTACCCGG	0.622000																								0							SO:0001583	missense			ENST00000428417.1	1	1	hg19	CCDS154.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584107	0.65992	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.43	5.43	0.79202	.	0.140331	0.51477	D	0.000095	T	0.54581	0.1867	M	0.64997	1.995	0.44677	D	0.997666	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.55970	-0.8056	10	0.66056	D	0.02	-1.3169	11.666	0.51374	0.0:0.9193:0.0:0.0807	.	33;33	Q9BSA0;Q9NW97	.;TMM51_HUMAN	M	33	ENSP00000394899:L33M;ENSP00000365182:L33M;ENSP00000412298:L33M;ENSP00000409665:L33M;ENSP00000383600:L33M;ENSP00000365176:L33M	ENSP00000303666:L33M	L	+	1	2	TMEM51	15414267	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.203000	0.32284	2.564000	0.86499	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	1	0	0	77	780	0	163	1	9.999905e-01	13	151	0	163	2		0	0	0	0	0	2	1	1	77	772	0	162	2								-3.318794	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.870000	0.730000	1.000000	0.930000	0.871489	0.870000	1	8.000000e-01	9.200000e-01
ASH1L	55870	broad.mit.edu	37	1	155451439	155451439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155451439G>A	ENST00000368346.3	-	3	1861	c.1222C>T	c.(1222-1224)Cta>Tta	p.L408L	ASH1L_ENST00000392403.3_Silent_p.L408L|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)			124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		CAACTCATTAGTTTCTTTCCA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000368346.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	1	0	1	197	480	0	144	1	9.997109e-01	7	25	0	144	2		0	0	0	0	0	2	1	1	193	468	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASH1L	55870	broad.mit.edu	37	1	155491144	155491144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155491144C>T	ENST00000368346.3	-	2	806	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K|ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)			124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		TTCGATGTTTCTTTCTCGATT	0.398000																								0							SO:0001583	missense			ENST00000368346.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.24	3.338689	0.60963	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.87491	-2.26;-2.26	6.03	5.13	0.70059	.	0.384283	0.27996	N	0.017004	T	0.49712	0.1573	N	0.08118	0	0.26744	N	0.970322	B;B	0.13145	0.004;0.007	B;B	0.16289	0.007;0.015	T	0.32824	-0.9892	10	0.05721	T	0.95	.	9.9335	0.41537	0.1377:0.7926:0.0:0.0697	.	56;56	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	56	ENSP00000357330:R56K;ENSP00000376204:R56K	ENSP00000357330:R56K	R	-	2	0	ASH1L	153757768	1.000000	0.71417	0.861000	0.33841	0.862000	0.49288	4.288000	0.59007	1.567000	0.49668	0.557000	0.71058	AGA		TCGA-IB-7651-01A-11D-2154-08	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	0	1	373	1735	0	341	1	9.994672e-01	14	38	0	341	2		0	0	0	0	0	2	1	1	364	1695	0	340	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSTO1	55154	broad.mit.edu	37	1	155581999	155581999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155581999C>T	ENST00000245564.2	+	8	729	c.705C>T	c.(703-705)caC>caT	p.H235H	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator			7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)				GTGACCTGCACGATGGCTTCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000245564.2	1	1	hg19	CCDS1114.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	1	0	0	53	274	0	63	1	6.877496e-01	2	12	0	63	2		0	0	0	0	0	2	1	1	51	256	0	67	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSTO1	55154	broad.mit.edu	37	1	155582030	155582030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582030G>A	ENST00000245564.2	+	8	760	c.736G>A	c.(736-738)Gca>Aca	p.A246T	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator			7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)				CGCGAAGGCGGCAGAGCTGCT	0.542000																								0							SO:0001583	missense			ENST00000245564.2	1	1	hg19	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	3.950	-0.012399	0.07727	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.41758	0.99;0.99	3.17	-2.59	0.06209	Tubulin/FtsZ, GTPase domain (3);	0.261190	0.37178	N	0.002219	T	0.05410	0.0143	N	0.02412	-0.56	0.47584	D	0.999463	B;B;B;B;B;B;B;B	0.09022	0.001;0.0;0.0;0.0;0.002;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.14023	0.01;0.004;0.002;0.004;0.01;0.002;0.002;0.002	T	0.17623	-1.0363	10	0.48119	T	0.1	.	4.7492	0.13052	0.4891:0.0:0.3635:0.1474	.	191;246;211;246;68;246;246;246	B4DLS9;A8K3J5;Q9BUK6-7;D3DVA3;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;.;MSTO1_HUMAN;.;.	T	246;211	ENSP00000245564:A246T;ENSP00000357325:A211T	ENSP00000245564:A246T	A	+	1	0	MSTO1	153848654	0.425000	0.25498	0.009000	0.14445	0.553000	0.35397	1.231000	0.32624	-0.444000	0.07170	0.313000	0.20887	GCA		TCGA-IB-7651-01A-11D-2154-08	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	1	0	0	93	257	0	58	1	9.153293e-01	7	7	0	58	2		0	0	0	0	0	2	1	1	87	247	0	63	2								-6.202543	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSTO1	55154	broad.mit.edu	37	1	155582081	155582081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582081C>T	ENST00000245564.2	+	8	811	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Silent_p.L228L|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator			7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)				AACCTGGGGCCTGCTACCTGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000245564.2	1	1	hg19	CCDS1114.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	1	0	0	75	343	0	75	1	9.999763e-01	13	60	0	75	2		0	0	0	0	0	2	1	1	70	334	0	75	2								-3.392052	1	0	121380	1	30	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YY1AP1	55249	broad.mit.edu	37	1	155629498	155629498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155629498C>T	ENST00000295566.4	-	11	2364	c.2341G>A	c.(2341-2343)Gtc>Atc	p.V781I	YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000368340.5_Missense_Mutation_p.V853I|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1			31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)				TCCATCTTGACAACTTCCTCT	0.512000																								0							SO:0001583	missense			ENST00000295566.4	1	1	hg19	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084995	0.55861	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.32;1.32;1.39;1.32;1.32;1.3;1.34;1.32;1.39;1.39;1.24;1.4	2.57	2.57	0.30868	.	0.276715	0.30752	N	0.008956	T	0.42966	0.1226	M	0.62723	1.935	0.80722	D	1	B;D;P;D;D	0.69078	0.4;0.996;0.65;0.997;0.996	B;D;P;D;D	0.78314	0.257;0.987;0.558;0.991;0.987	T	0.43048	-0.9415	10	0.62326	D	0.03	.	10.1575	0.42831	0.0:1.0:0.0:0.0	.	873;715;781;735;853	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	I	724;735;704;735;724;853;781;735;704;715;873;581	ENSP00000352134:V724I;ENSP00000347686:V735I;ENSP00000311138:V704I;ENSP00000316079:V735I;ENSP00000355298:V724I;ENSP00000357324:V853I;ENSP00000295566:V781I;ENSP00000357314:V735I;ENSP00000385791:V704I;ENSP00000385390:V715I;ENSP00000357323:V873I;ENSP00000437926:V581I	ENSP00000295566:V781I	V	-	1	0	YY1AP1	153896122	0.411000	0.25384	0.565000	0.28409	0.057000	0.15508	1.943000	0.40253	1.424000	0.47217	0.313000	0.20887	GTC		TCGA-IB-7651-01A-11D-2154-08	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	1	0	1	114	711	0	182	1	1	60	160	0	182	2		0	0	0	0	0	2	1	1	111	706	0	182	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YY1AP1	55249	broad.mit.edu	37	1	155630344	155630344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155630344G>A	ENST00000295566.4	-	11	1518	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S	YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P571S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1			31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)				GGCTGTATTGGGTGAGGAATC	0.557000																								0							SO:0001583	missense			ENST00000295566.4	1	1	hg19	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	1.729	-0.494657	0.04322	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	2.53	-1.25	0.09405	.	1.325680	0.04977	N	0.465021	T	0.08088	0.0202	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B	0.34015	0.024;0.01;0.435;0.026;0.07	B;B;B;B;B	0.32465	0.032;0.022;0.146;0.046;0.023	T	0.24512	-1.0158	10	0.66056	D	0.02	.	4.4857	0.11788	0.2871:0.0:0.5222:0.1907	.	591;433;499;453;571	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	S	442;453;422;453;442;571;499;453;422;433;591;299	ENSP00000352134:P442S;ENSP00000347686:P453S;ENSP00000311138:P422S;ENSP00000316079:P453S;ENSP00000355298:P442S;ENSP00000357324:P571S;ENSP00000295566:P499S;ENSP00000357314:P453S;ENSP00000385791:P422S;ENSP00000385390:P433S;ENSP00000357323:P591S;ENSP00000437926:P299S	ENSP00000295566:P499S	P	-	1	0	YY1AP1	153896968	0.000000	0.05858	0.077000	0.20336	0.031000	0.12232	-0.134000	0.10436	-0.477000	0.06832	0.306000	0.20318	CCA		TCGA-IB-7651-01A-11D-2154-08	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	1	0	0	97	416	0	83	1	1	57	196	0	83	2		0	0	0	0	0	2	1	1	82	335	0	90	2								-3.286543	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YY1AP1	55249	broad.mit.edu	37	1	155646536	155646536	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155646536A>C	ENST00000295566.4	-	5	348	c.325T>G	c.(325-327)Ttt>Gtt	p.F109V	YY1AP1_ENST00000311573.5_Splice_Site_p.F32V|YY1AP1_ENST00000405763.3_Splice_Site_p.F181V|YY1AP1_ENST00000359205.5_Splice_Site_p.F32V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Splice_Site_p.F43V|YY1AP1_ENST00000368330.2_Splice_Site_p.F43V|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000355499.4_Splice_Site_p.F43V|YY1AP1_ENST00000407221.1_Splice_Site_p.F32V|YY1AP1_ENST00000347088.5_Splice_Site_p.F43V|YY1AP1_ENST00000368340.5_Splice_Site_p.F181V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000361831.5_Splice_Site_p.F32V|YY1AP1_ENST00000404643.1_Splice_Site_p.F43V|YY1AP1_ENST00000368339.5_Splice_Site_p.F181V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1			31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)				AGTTCCTCAAACCTATCCCAA	0.408000																								0							SO:0001630	splice_region_variant			ENST00000295566.4	1	0	hg19	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417714	0.62622	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.55;1.61;1.59;1.61;1.55;1.52;1.54;1.61;1.59;1.61;1.52	3.78	3.78	0.43462	.	0.216427	0.41823	D	0.000816	T	0.42381	0.1200	M	0.68952	2.095	0.42822	D	0.993996	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.991;0.999;0.991;0.998;0.99	T	0.46062	-0.9218	10	0.72032	D	0.01	.	12.3301	0.55035	1.0:0.0:0.0:0.0	.	43;109;181;181;109;43;181	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	V	32;43;32;43;32;181;109;43;32;43;181;181;43;32;43	ENSP00000352134:F32V;ENSP00000347686:F43V;ENSP00000311138:F32V;ENSP00000316079:F43V;ENSP00000355298:F32V;ENSP00000357324:F181V;ENSP00000295566:F109V;ENSP00000357314:F43V;ENSP00000385791:F32V;ENSP00000385390:F43V;ENSP00000357323:F181V	ENSP00000295566:F109V	F	-	1	0	YY1AP1	153913160	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.963000	0.70372	1.573000	0.49748	0.374000	0.22700	TTT		TCGA-IB-7651-01A-11D-2154-08	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	1	0	1	43	288	0	56	1	9.999988e-01	21	119	0	56	2		0	0	0	0	0	2	1	1	40	284	0	56	2								-18.710160	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
GON4L	54856	broad.mit.edu	37	1	155732150	155732150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155732150G>A	ENST00000368331.1	-	23	4790	c.4742C>T	c.(4741-4743)gCt>gTt	p.A1581V	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)			45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)				TTTTCCAGCAGCTTTGATGCT	0.542000																								0							SO:0001583	missense			ENST00000368331.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522108	0.64747	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.12672	2.66;2.66;2.66	5.13	3.21	0.36854	.	0.280404	0.31123	N	0.008201	T	0.07954	0.0199	N	0.14661	0.345	0.30708	N	0.74962	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.85130	0.985;0.994;0.997	T	0.09143	-1.0688	10	0.59425	D	0.04	.	5.1678	0.15094	0.0779:0.1456:0.6255:0.1509	.	777;1581;1581	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	V	1581	ENSP00000396117:A1581V;ENSP00000357315:A1581V;ENSP00000271883:A1581V	ENSP00000271883:A1581V	A	-	2	0	GON4L	153998774	0.989000	0.36119	0.997000	0.53966	0.690000	0.40134	1.827000	0.39102	0.699000	0.31761	0.305000	0.20034	GCT		TCGA-IB-7651-01A-11D-2154-08	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	40	110	0	27	1	9.999995e-01	23	46	0	27	2		0	0	0	0	0	2	1	1	40	109	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GON4L	54856	broad.mit.edu	37	1	155733187	155733187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155733187C>A	ENST00000368331.1	-	22	4690	c.4642G>T	c.(4642-4644)Gca>Tca	p.A1548S	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1548S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)			45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)				TCTCCAACTGCTTCATCCGTC	0.502000																								0							SO:0001583	missense			ENST00000368331.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.06	2.720281	0.48728	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10382	2.88;2.88;2.88	4.93	1.92	0.25849	.	0.589122	0.16803	N	0.198911	T	0.02533	0.0077	L	0.47716	1.5	0.09310	N	1	P;P;P	0.42296	0.512;0.666;0.775	B;B;B	0.38156	0.15;0.137;0.266	T	0.37820	-0.9689	10	0.10377	T	0.69	.	8.1656	0.31224	0.0:0.7227:0.1293:0.148	.	744;1548;1548	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	S	1548	ENSP00000396117:A1548S;ENSP00000357315:A1548S;ENSP00000271883:A1548S	ENSP00000271883:A1548S	A	-	1	0	GON4L	153999811	0.018000	0.18449	0.002000	0.10522	0.413000	0.31143	0.570000	0.23653	0.646000	0.30693	-0.291000	0.09656	GCA		TCGA-IB-7651-01A-11D-2154-08	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	17	74	0	13	1	9.994176e-01	18	41	0	13	2		0	0	0	0	0	2	1	9.999776e-01	17	72	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
GON4L	54856	broad.mit.edu	37	1	155746214	155746214	+	Missense_Mutation	SNP	G	G	A	rs140447805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155746214G>A	ENST00000368331.1	-	16	2198	c.2150C>T	c.(2149-2151)cCg>cTg	p.P717L	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.P717L|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)			45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)				AGTGGCCTCCGGATTGAGGTT	0.428000																								0							SO:0001583	missense			ENST00000368331.1	1	1	hg19		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.303	0.613383	0.14066	0.0	3.49E-4	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11063	3.0;3.0;3.0;2.81	4.82	2.97	0.34412	.	0.400789	0.25006	N	0.033870	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.12013	0.005;0.002;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.0;0.001	T	0.43163	-0.9408	10	0.52906	T	0.07	.	5.8545	0.18712	0.1602:0.0:0.686:0.1538	.	717;717;717;717	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	717	ENSP00000396117:P717L;ENSP00000357315:P717L;ENSP00000271883:P717L;ENSP00000354322:P717L	ENSP00000271883:P717L	P	-	2	0	GON4L	154012838	0.784000	0.28713	0.006000	0.13384	0.072000	0.16883	1.749000	0.38319	0.666000	0.31087	0.586000	0.80456	CCG		TCGA-IB-7651-01A-11D-2154-08	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	73	249	0	63	1	9.955854e-01	8	23	0	63	2		0	0	0	0	0	2	1	1	71	240	0	63	2								-3.841702	1	0	121412	25	46	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GON4L	54856	broad.mit.edu	37	1	155783530	155783530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155783530C>T	ENST00000368331.1	-	10	1395	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)			45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)				TTGGAGGGGGCGGGGGCCCCA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000368331.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	76	230	0	50	1	9.998602e-01	6	37	0	50	2		0	0	0	0	0	2	1	1	77	226	0	49	2								-4.399249	1	1	121412	3	33	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYT11	23208	broad.mit.edu	37	1	155850386	155850386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155850386G>A	ENST00000368324.4	+	3	1210	c.957G>A	c.(955-957)ccG>ccA	p.P319P	SYT11_ENST00000539162.1_Silent_p.P12P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI			20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)		GACACTTGCCGAAGATGGATA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000368324.4	1	1	hg19	CCDS1122.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	0	0	0	31	727	1	144	0	4.843684e-01	0	86	1	144	4		0	0	0	0	0	2	1	9.749273e-01	31	710	1	144	18								-3.665088	1	1	121412	1	42	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.520000	0.360000	0.720000	0.510000	0.535157	0.520000	0	4.300000e-01	6.200000e-01
SYT11	23208	broad.mit.edu	37	1	155851245	155851245	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851245C>A	ENST00000368324.4	+	4	1495	c.1242C>A	c.(1240-1242)gtC>gtA	p.V414V	SYT11_ENST00000539162.1_Silent_p.V107V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI			20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)		GGAGAGAGGTCTGCGAGAGCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000368324.4	1	1	hg19	CCDS1122.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	1	0	0	183	519	0	117	1	1	2	68	0	117	2		0	0	0	0	0	2	1	1	181	508	0	115	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0907	22889	broad.mit.edu	37	1	155885736	155885736	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155885736C>A	ENST00000368321.3	-	13	1596	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	KIAA0907_ENST00000368320.3_Missense_Mutation_p.A525S	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907			21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		ACTGGAAAGGCTGGTGGAGGC	0.413000																								0							SO:0001583	missense			ENST00000368321.3	1	1	hg19	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752806	0.49362	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T	0.31769	1.48	6.02	5.09	0.68999	.	0.263978	0.41097	N	0.000951	T	0.08403	0.0209	N	0.12182	0.205	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.003	T	0.10894	-1.0610	10	0.23302	T	0.38	-5.3086	14.5869	0.68331	0.2659:0.7341:0.0:0.0	.	525;525	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	S	525	ENSP00000357304:A525S	ENSP00000357303:A525S	A	-	1	0	KIAA0907	154152360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.766000	0.38491	1.517000	0.48917	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	1	0	1	342	1011	0	281	1	9.999999e-01	17	50	0	281	2		0	0	0	0	0	2	1	1	322	983	1	279	17								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0907	22889	broad.mit.edu	37	1	155891297	155891297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155891297C>A	ENST00000368321.3	-	10	1158	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	KIAA0907_ENST00000368320.3_Nonsense_Mutation_p.G379*|KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907			21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		CTTGGTACTCCGTAGGGAGGT	0.517000																								0							SO:0001587	stop_gained			ENST00000368321.3	0	1	hg19	CCDS30885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.014091|5.014091	0.93404|0.93404	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368321;ENST00000368320|ENST00000368319	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.241207|.	0.42548|.	D|.	0.000698|.	.|T	.|0.17789	.|0.0427	.|.	.|.	.|.	0.19300|0.19300	N|N	0.999979|0.999979	.|B	.|0.10296	.|0.003	.|B	.|0.17433	.|0.018	.|T	.|0.07065	.|-1.0792	.|7	0.44086|0.12103	T|T	0.13|0.63	-8.6237|-8.6237	19.2427|19.2427	0.93889|0.93889	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|345	.|Q7Z7F0-3	.|.	X|L	379|345	.|.	ENSP00000357303:G379X|ENSP00000357302:R345L	G|R	-|-	1|2	0|0	KIAA0907|KIAA0907	154157921|154157921	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	3.274000|3.274000	0.51631|0.51631	2.644000|2.644000	0.89710|0.89710	0.491000|0.491000	0.48974|0.48974	GGA|CGG		TCGA-IB-7651-01A-11D-2154-08	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	1	0	0	62	334	0	67	1	9.995754e-01	8	56	0	67	2		0	0	0	0	0	2	1	1	60	327	0	67	2								-2.723299	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0907	22889	broad.mit.edu	37	1	155896514	155896514	+	Missense_Mutation	SNP	C	C	T	rs116935123	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155896514C>T	ENST00000368321.3	-	6	657	c.634G>A	c.(634-636)Gct>Act	p.A212T	KIAA0907_ENST00000368320.3_Missense_Mutation_p.A212T|KIAA0907_ENST00000368319.3_Missense_Mutation_p.A212T|KIAA0907_ENST00000482337.1_5'UTR|SCARNA4_ENST00000516999.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907			21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		GACAACTGAGCGATGGGTGCT	0.438000																								0							SO:0001583	missense			ENST00000368321.3	1	0	hg19	CCDS30885.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	11.01	1.512287	0.27036	4.54E-4	0.0	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.64	1.36	0.22044	.	0.388899	0.30219	N	0.010137	T	0.04907	0.0132	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.29188	0.089;0.236;0.017;0.004	B;B;B;B	0.17979	0.016;0.02;0.002;0.002	T	0.43798	-0.9369	9	0.11485	T	0.65	-0.1296	9.1808	0.37141	0.0:0.5305:0.0:0.4695	.	212;212;212;212	Q7Z7F0-4;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;K0907_HUMAN	T	212	.	ENSP00000357302:A212T	A	-	1	0	KIAA0907	154163138	0.000000	0.05858	0.344000	0.25628	0.853000	0.48598	-0.919000	0.04017	0.082000	0.17018	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	0	0	1	112	377	0	92	1	9.999999e-01	25	54	0	92	2		0	0	0	0	0	2	1	1	110	365	0	91	2								-3.041230	1	1	121412	98	51	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0907	22889	broad.mit.edu	37	1	155899568	155899568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155899568C>A	ENST00000368321.3	-	3	342	c.319G>T	c.(319-321)Gta>Tta	p.V107L	KIAA0907_ENST00000368320.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907			21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		TTAATTTCTACTTCAGCTACC	0.443000																								0							SO:0001583	missense			ENST00000368321.3	1	1	hg19	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266596	0.95399	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.25485	0.75	0.80722	D	1	P;D;P;P;P;P	0.53151	0.851;0.958;0.851;0.936;0.736;0.736	P;P;B;P;B;B	0.54431	0.546;0.752;0.444;0.64;0.422;0.422	T	0.24333	-1.0163	9	0.12430	T	0.62	-11.2924	18.7817	0.91934	0.0:1.0:0.0:0.0	.	107;107;107;107;107;107	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	L	107	.	ENSP00000357302:V107L	V	-	1	0	KIAA0907	154166192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.767000	0.95098	0.563000	0.77884	GTA		TCGA-IB-7651-01A-11D-2154-08	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	1	0	1	57	230	0	44	1	9.999678e-01	6	59	0	44	2		0	0	0	0	0	2	1	1	57	224	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEX3A	92312	broad.mit.edu	37	1	156046584	156046584	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156046584C>T	ENST00000532414.2	-	2	1343	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A			9	Hepatocellular(266;0.158)|all_neural(408;0.195)				AGCCCTGGAGCGGCTCTCCCG	0.746000																								0							SO:0001819	synonymous_variant			ENST00000532414.2	0	1	hg19	CCDS53377.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	1	0	0	12	32	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.995573e-01	12	32	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
MEX3A	92312	broad.mit.edu	37	1	156047062	156047062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047062G>A	ENST00000532414.2	-	2	865	c.866C>T	c.(865-867)gCg>gTg	p.A289V	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A			9	Hepatocellular(266;0.158)|all_neural(408;0.195)				AGTGCGCACCGCGATGTGCGT	0.627000																								0							SO:0001583	missense			ENST00000532414.2	1	1	hg19	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145694	0.94603	.	.	ENSG00000254726	ENST00000532414	T	0.44083	0.93	5.3	5.3	0.74995	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	P	0.56434	0.798	T	0.47995	-0.9073	10	0.72032	D	0.01	.	17.5189	0.87782	0.0:0.0:1.0:0.0	.	289	A1L020	MEX3A_HUMAN	V	289	ENSP00000432845:A289V	ENSP00000432845:A289V	A	-	2	0	MEX3A	154313686	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	9.869000	0.99810	2.477000	0.83638	0.313000	0.20887	GCG		TCGA-IB-7651-01A-11D-2154-08	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	1	0	1	59	294	0	61	0	2.016576e-01	0	5	0	61	2		0	0	0	0	0	2	1	1	55	292	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEX3A	92312	broad.mit.edu	37	1	156047459	156047459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047459C>T	ENST00000532414.2	-	2	468	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A			9	Hepatocellular(266;0.158)|all_neural(408;0.195)				GCCCTCAAGGCCTTAATCTTG	0.567000																								0							SO:0001583	missense			ENST00000532414.2	1	1	hg19	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629529	0.87660	.	.	ENSG00000254726	ENST00000532414	T	0.30448	1.53	5.37	5.37	0.77165	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.17167	-1.0378	10	0.45353	T	0.12	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	157	A1L020	MEX3A_HUMAN	T	157	ENSP00000432845:A157T	ENSP00000432845:A157T	A	-	1	0	MEX3A	154314083	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.999000	0.70665	2.527000	0.85204	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	1	0	0	29	90	0	17	0	6.203730e-01	1	7	0	17	2		0	0	0	0	0	2	1	1	28	88	0	15	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEX3A	92312	broad.mit.edu	37	1	156047474	156047474	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047474C>A	ENST00000532414.2	-	2	454		c.e2-1		AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_Splice_Site	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A			9	Hepatocellular(266;0.158)|all_neural(408;0.195)				ATCTTGCAGCCTGGGATAGGG	0.547000																								0							SO:0001630	splice_region_variant			ENST00000532414.2	0	1	hg19	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519069	0.64634	.	.	ENSG00000254726	ENST00000532414	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6757	0.88230	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEX3A	154314098	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.527000	0.85204	0.462000	0.41574	.		TCGA-IB-7651-01A-11D-2154-08	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	1	0	1	13	108	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.995666e-01	13	105	0	17	2								-19.854220	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.790000	1.000000	1.000000	0.985437	0.990000	1	9.900000e-01	1
SEMA4A	64218	broad.mit.edu	37	1	156130351	156130351	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156130351G>A	ENST00000368285.3	+	7	952		c.e7+1		SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A			5	Hepatocellular(266;0.158)				TGGCTGCATCGTAAGGACCTG	0.537000																								0							SO:0001630	splice_region_variant			ENST00000368285.3	1	1	hg19	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.519794	0.85495	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.099	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA4A	154396975	1.000000	0.71417	0.958000	0.39756	0.971000	0.66376	8.819000	0.91997	2.619000	0.88677	0.467000	0.42956	.		TCGA-IB-7651-01A-11D-2154-08	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	0	0	1	42	193	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	41	188	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A44	9673	broad.mit.edu	37	1	156169976	156169976	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156169976T>G	ENST00000359511.4	+	2	510	c.338T>G	c.(337-339)cTg>cGg	p.L113R	SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44			14	Hepatocellular(266;0.158)				GTCAAATCACTGGTGGCTGGT	0.517000																								0							SO:0001583	missense			ENST00000359511.4	1	1	hg19	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434458	0.83776	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	D;T	0.82526	-1.62;-1.45	5.9	5.9	0.94986	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000005	D	0.92629	0.7658	H	0.95470	3.675	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.994	D;D;D	0.74348	0.983;0.95;0.976	D	0.94587	0.7784	10	0.87932	D	0	-7.9359	14.2753	0.66175	0.0:0.0:0.0:1.0	.	113;113;113	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	R	113	ENSP00000352497:L113R;ENSP00000407560:L113R	ENSP00000352497:L113R	L	+	2	0	SLC25A44	154436600	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.825000	0.86693	2.254000	0.74563	0.482000	0.46254	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	1	0	1	63	197	0	41	1	9.999999e-01	23	57	0	41	2		0	0	0	0	0	2	1	1	63	192	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMF1	11243	broad.mit.edu	37	1	156203496	156203496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156203496C>T	ENST00000368273.4	+	3	361	c.351C>T	c.(349-351)ggC>ggT	p.G117G	PMF1_ENST00000368277.3_Silent_p.G115G|PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G|PMF1_ENST00000368279.3_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1			6	Hepatocellular(266;0.158)				TGGAAGAAGGCAAAGTCCGCA	0.458000													Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)											0							SO:0001819	synonymous_variant			ENST00000368273.4	1	1	hg19	CCDS55648.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	1	0	1	184	495	0	150	0	1	0	176	0	150	2		0	0	0	0	0	2	1	1	181	483	0	149	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG5	23381	broad.mit.edu	37	1	156221200	156221200	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156221200T>C	ENST00000361813.5	-	20	2966	c.2822A>G	c.(2821-2823)gAt>gGt	p.D941G	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor			48	Hepatocellular(266;0.158)				TTACCAGGCATCTGCATCCTG	0.547000																								0							SO:0001583	missense			ENST00000361813.5	1	1	hg19	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898959	0.72754	.	.	ENSG00000198952	ENST00000361813	T	0.33654	1.4	4.56	4.56	0.56223	Nucleotide binding protein, PINc (1);	0.060757	0.64402	D	0.000005	T	0.27489	0.0675	L	0.52573	1.65	0.80722	D	1	P	0.47677	0.899	P	0.45913	0.497	T	0.10636	-1.0621	10	0.66056	D	0.02	-26.2081	13.2101	0.59819	0.0:0.0:0.0:1.0	.	941	Q9UPR3	SMG5_HUMAN	G	941	ENSP00000355261:D941G	ENSP00000355261:D941G	D	-	2	0	SMG5	154487824	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.029000	0.76477	2.062000	0.61559	0.459000	0.35465	GAT		TCGA-IB-7651-01A-11D-2154-08	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	1	0	1	177	851	0	188	1	1	5	129	0	188	2		0	0	0	0	0	2	1	1	176	831	0	186	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG5	23381	broad.mit.edu	37	1	156238182	156238182	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156238182C>A	ENST00000361813.5	-	8	882	c.738G>T	c.(736-738)gaG>gaT	p.E246D	SMG5_ENST00000368267.5_Missense_Mutation_p.E246D|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor			48	Hepatocellular(266;0.158)				CATAGGCTCCCTCAAAGGACA	0.498000																								0							SO:0001583	missense			ENST00000361813.5	1	1	hg19	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463389	0.26248	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.30182	1.54;1.54	6.02	3.03	0.35002	.	0.099820	0.64402	D	0.000002	T	0.04543	0.0124	N	0.05012	-0.13	0.42050	D	0.991117	B	0.18013	0.025	B	0.15052	0.012	T	0.25187	-1.0139	10	0.14656	T	0.56	-33.8617	8.0339	0.30480	0.0:0.5959:0.0:0.4041	.	246	Q9UPR3	SMG5_HUMAN	D	246	ENSP00000355261:E246D;ENSP00000357250:E246D	ENSP00000355261:E246D	E	-	3	2	SMG5	154504806	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.277000	0.18734	0.812000	0.34326	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	1	0	1	207	868	0	175	1	9.999998e-01	11	79	0	175	2		0	0	0	0	0	2	1	1	202	854	0	172	2								-2.601333	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG5	23381	broad.mit.edu	37	1	156247016	156247016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156247016C>A	ENST00000361813.5	-	4	458	c.314G>T	c.(313-315)aGc>aTc	p.S105I	SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor			48	Hepatocellular(266;0.158)				TTCCAAAGTGCTCCGGCTGTG	0.522000																								0							SO:0001583	missense			ENST00000361813.5	1	1	hg19	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916478	0.92249	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17691	2.26;2.26	5.92	5.92	0.95590	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.43152	1.355	0.80722	D	1	P	0.39737	0.685	P	0.48901	0.594	T	0.00359	-1.1791	10	0.66056	D	0.02	-7.4881	18.8866	0.92381	0.0:1.0:0.0:0.0	.	105	Q9UPR3	SMG5_HUMAN	I	105	ENSP00000355261:S105I;ENSP00000357250:S105I	ENSP00000355261:S105I	S	-	2	0	SMG5	154513640	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.594000	0.82698	2.797000	0.96272	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	1	0	1	19	102	0	30	1	9.999812e-01	5	101	0	30	2		0	0	0	0	0	2	1	9.999926e-01	19	98	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999869	0.990000	1	9.900000e-01	1
C1orf85	112770	broad.mit.edu	37	1	156263838	156263838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156263838C>T	ENST00000362007.1	-	4	795	c.769G>A	c.(769-771)Gac>Aac	p.D257N	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85			14	Hepatocellular(266;0.158)				TATTCATCGTCGATGGAGTGC	0.587000																								0							SO:0001583	missense			ENST00000362007.1	1	1	hg19	CCDS1139.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063799	0.76187	.	.	ENSG00000198715	ENST00000362007;ENST00000368264	T;T	0.49139	0.79;0.79	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.76328	2.33	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67948	-0.5538	10	0.87932	D	0	-3.9229	16.9635	0.86279	0.0:1.0:0.0:0.0	.	176;257	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	N	257;171	ENSP00000354553:D257N;ENSP00000357247:D171N	ENSP00000354553:D257N	D	-	1	0	C1orf85	154530462	1.000000	0.71417	0.763000	0.31416	0.327000	0.28475	5.832000	0.69337	2.611000	0.88343	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	0	0	0	30	924	0	157	1	9.999505e-01	13	446	0	157	2		0	0	0	0	0	2	1	1	30	909	0	153	2								-3.226785	1	1	121412	3	41	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.400000	0.270000	0.560000	0.390000	0.412506	0.400000	0	3.300000e-01	4.800000e-01
VHLL	391104	broad.mit.edu	37	1	156268967	156268967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156268967G>A	ENST00000339922.3	-	1	461	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like			4	Hepatocellular(266;0.158)				CCCGTTCCCCGCTCTCCAGGG	0.602000																								0							SO:0001583	missense			ENST00000339922.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	1	0	1	149	400	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	149	394	0	87	2								-20.000000	1	1	121044	4	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCT3	7203	broad.mit.edu	37	1	156279038	156279038	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156279038G>A	ENST00000295688.3	-	14	1870	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_ENST00000472765.2_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000368261.3_Silent_p.G485G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)			22	Hepatocellular(266;0.158)				TCTGGTCATCGCCTTTCTTTT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000295688.3	1	1	hg19	CCDS1140.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	1	0	1	154	665	0	147	1	1	451	1197	0	147	2		0	0	0	0	0	2	1	1	151	654	1	146	19								-20.000000	1	1	121412	1	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCT3	7203	broad.mit.edu	37	1	156288797	156288797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156288797G>A	ENST00000295688.3	-	8	901	c.621C>T	c.(619-621)ggC>ggT	p.G207G	CCT3_ENST00000472765.2_Silent_p.G162G|CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000368261.3_Silent_p.G162G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)			22	Hepatocellular(266;0.158)				CTTCAATGATGCCTCCAGGTA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000295688.3	1	1	hg19	CCDS1140.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	1	0	1	28	261	0	49	1	1	89	556	0	49	2		0	0	0	0	0	2	1	1	28	253	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.850000	1.000000	1.000000	0.989504	0.990000	1	9.900000e-01	1
CCT3	7203	broad.mit.edu	37	1	156303409	156303409	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156303409T>C	ENST00000295688.3	-	5	513	c.233A>G	c.(232-234)aAg>aGg	p.K78R	CCT3_ENST00000472765.2_Missense_Mutation_p.K33R|CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368261.3_Missense_Mutation_p.K33R	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)			22	Hepatocellular(266;0.158)				GATCATGGACTTGGCCGCTGG	0.438000																								0							SO:0001583	missense			ENST00000295688.3	1	1	hg19	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	T	31	5.095880	0.94197	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000446905;ENST00000478640;ENST00000415548	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.84948	2.725	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.97110	0.929;1.0;0.984	D	0.90355	0.4369	10	0.87932	D	0	-18.78	12.6112	0.56552	0.0:0.0:0.0:1.0	.	40;78;78	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	R	78;40;33;33;102;78;64;57;78	ENSP00000295688:K78R;ENSP00000357242:K40R;ENSP00000357244:K33R;ENSP00000431543:K33R;ENSP00000413308:K102R;ENSP00000434232:K78R;ENSP00000388799:K64R;ENSP00000435026:K57R;ENSP00000413431:K78R	ENSP00000295688:K78R	K	-	2	0	CCT3	154570033	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.394000	0.79862	2.234000	0.73211	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	0	0	0	11	532	0	105	1	9.999819e-01	17	1051	0	105	2		0	0	0	0	0	2	1	9.981626e-01	11	521	0	104	2								-3.368573	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.260000	0.130000	0.440000	0.270000	0.279372	0.260000	0	1.900000e-01	3.600000e-01
RHBG	57127	broad.mit.edu	37	1	156339202	156339202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156339202C>T	ENST00000368249.1	+	1	200	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RHBG_ENST00000368246.2_Silent_p.D54D|RHBG_ENST00000537040.1_Silent_p.D54D|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)			22	Hepatocellular(266;0.158)				GTAACGCGGACAATGAATTTT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000368249.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	0	0	0	5	129	1	35		0	0	0	1	35	2		0	0	0	0	0	2	0	3.550425e-02	5	125	1	35	13								-8.115687	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.510000	0.190000	1.000000	1.000000	0.544857	0.510000	0	3.300000e-01	7.500000e-01
RHBG	57127	broad.mit.edu	37	1	156347099	156347099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156347099G>T	ENST00000368249.1	+	2	233	c.195G>T	c.(193-195)caG>caT	p.Q65H	RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)			22	Hepatocellular(266;0.158)				CAGGCTTCCAGGACGTGCATG	0.637000																								0							SO:0001583	missense			ENST00000368249.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469821	0.84533	.	.	ENSG00000132677	ENST00000368249;ENST00000368246	T;T	0.25085	1.82;1.82	4.86	3.87	0.44632	Ammonium transporter AmtB-like (3);	0.055699	0.64402	D	0.000001	T	0.48589	0.1508	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.983;0.984	T	0.57207	-0.7851	10	0.87932	D	0	-25.444	8.2552	0.31751	0.1884:0.0:0.8116:0.0	.	65;102	Q9H310;Q5SZW5	RHBG_HUMAN;.	H	65	ENSP00000357232:Q65H;ENSP00000357229:Q65H	ENSP00000357229:Q65H	Q	+	3	2	RHBG	154613723	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.552000	0.60747	2.512000	0.84698	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	1	0	1	196	681	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1	194	669	0	144	2								-4.712994	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEF2D	4209	broad.mit.edu	37	1	156437841	156437841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156437841C>T	ENST00000348159.4	-	11	1978	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T|MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T|MEF2D_ENST00000353795.3_Missense_Mutation_p.A454T|MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000464356.2_Missense_Mutation_p.A492T	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D			15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				GGCTCTGGGGCTGGGCGCAGC	0.647000																								0							SO:0001583	missense			ENST00000348159.4	1	1	hg19	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395044	0.42512	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.48;0.1;0.1	4.01	4.01	0.46588	.	0.241597	0.35555	N	0.003133	T	0.17365	0.0417	N	0.14661	0.345	0.33201	D	0.552116	B;P;B	0.39282	0.011;0.666;0.041	B;B;B	0.33339	0.005;0.162;0.011	T	0.11275	-1.0594	10	0.46703	T	0.11	-18.3887	4.937	0.13946	0.2118:0.6797:0.0:0.1085	.	505;500;493	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	T	500;499;493;454;493;492	ENSP00000271555:A500T;ENSP00000343159:A499T;ENSP00000357223:A493T;ENSP00000344705:A454T;ENSP00000353803:A493T;ENSP00000388505:A492T	ENSP00000343159:A499T	A	-	1	0	MEF2D	154704465	0.985000	0.35326	1.000000	0.80357	0.956000	0.61745	2.693000	0.47027	2.084000	0.62774	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	0	0	0	16	512	0	95	1	9.769453e-01	6	194	0	95	2		0	0	0	0	0	2	1	9.999235e-01	16	502	0	91	2								-3.451539	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.390000	0.230000	0.600000	0.390000	0.406913	0.390000	0	3.000000e-01	5.000000e-01
IQGAP3	128239	broad.mit.edu	37	1	156499988	156499988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156499988C>T	ENST00000361170.2	-	34	4323	c.4313G>A	c.(4312-4314)cGg>cAg	p.R1438Q	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3			75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				CAGGACGCGCCGCTGCTTCTC	0.642000																								0							SO:0001583	missense			ENST00000361170.2	1	1	hg19	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033213	0.35893	.	.	ENSG00000183856	ENST00000361170	T	0.45276	0.9	4.5	0.432	0.16529	RasGAP protein, C-terminal (1);	0.204155	0.40554	N	0.001067	T	0.12902	0.0313	L	0.41710	1.295	0.32173	N	0.581325	B	0.23377	0.084	B	0.15052	0.012	T	0.11227	-1.0596	10	0.34782	T	0.22	-8.4963	8.3785	0.32457	0.0:0.6506:0.0:0.3494	.	1438	Q86VI3	IQGA3_HUMAN	Q	1438	ENSP00000354451:R1438Q	ENSP00000354451:R1438Q	R	-	2	0	IQGAP3	154766612	0.000000	0.05858	0.014000	0.15608	0.441000	0.31987	0.238000	0.18004	-0.076000	0.12775	-0.258000	0.10820	CGG		TCGA-IB-7651-01A-11D-2154-08	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	1	0	1	30	100	0	22	1	9.473054e-01	6	13	0	22	2		0	0	0	0	0	2	1	1	28	94	0	19	2								-20.000000	1	1	121406	10	37	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQGAP3	128239	broad.mit.edu	37	1	156501021	156501021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156501021G>A	ENST00000361170.2	-	33	4132	c.4122C>T	c.(4120-4122)gcC>gcT	p.A1374A	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3			75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				GTATGATATCGGCCAACAGCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000361170.2	1	1	hg19	CCDS1144.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	1	0	1	131	364	0	92	1	9.994996e-01	17	17	0	92	2		0	0	0	0	0	2	1	1	130	352	0	92	2								-6.722394	1	1	121412	373	56	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQGAP3	128239	broad.mit.edu	37	1	156504303	156504303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156504303G>A	ENST00000361170.2	-	29	3740	c.3730C>T	c.(3730-3732)Ctc>Ttc	p.L1244F	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3			75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				CTGAACTTGAGGTGTGTTTCC	0.562000																								0							SO:0001583	missense			ENST00000361170.2	1	1	hg19	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	8.928	0.962745	0.18583	.	.	ENSG00000183856	ENST00000361170	D	0.82167	-1.58	5.15	3.24	0.37175	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	1.032550	0.07629	N	0.928249	T	0.61160	0.2325	L	0.54323	1.7	0.28454	N	0.91623	B	0.24258	0.1	B	0.18561	0.022	T	0.54860	-0.8230	10	0.56958	D	0.05	-2.5708	2.0226	0.03512	0.1698:0.159:0.5066:0.1646	.	1244	Q86VI3	IQGA3_HUMAN	F	1244	ENSP00000354451:L1244F	ENSP00000354451:L1244F	L	-	1	0	IQGAP3	154770927	0.000000	0.05858	0.908000	0.35775	0.987000	0.75469	-0.196000	0.09532	0.715000	0.32103	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	1	0	1	45	168	0	40	1	8.973001e-01	3	14	0	40	2		0	0	0	0	0	2	1	1	45	165	0	40	2								-3.720150	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQGAP3	128239	broad.mit.edu	37	1	156518421	156518421	+	Missense_Mutation	SNP	C	C	T	rs77834544	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156518421C>T	ENST00000361170.2	-	17	1955	c.1945G>A	c.(1945-1947)Ggc>Agc	p.G649S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3			75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				CGCTGGTAGCCGTTGGCACAG	0.617000																								0							SO:0001583	missense			ENST00000361170.2	1	0	hg19	CCDS1144.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	C	0.034	-1.315087	0.01331	0.020881	0.0	ENSG00000183856	ENST00000361170	T	0.05786	3.39	4.7	-2.13	0.07144	.	0.503962	0.21193	N	0.078609	T	0.00608	0.0020	N	0.03177	-0.4	0.09310	N	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.35176	-0.9799	10	0.08179	T	0.78	-4.4028	9.4457	0.38695	0.0:0.4748:0.0:0.5252	.	649	Q86VI3	IQGA3_HUMAN	S	649	ENSP00000354451:G649S	ENSP00000354451:G649S	G	-	1	0	IQGAP3	154785045	0.000000	0.05858	0.006000	0.13384	0.118000	0.20060	-0.258000	0.08733	-0.889000	0.03950	-0.258000	0.10820	GGC		TCGA-IB-7651-01A-11D-2154-08	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	1	0	1	116	371	0	84	1	9.486042e-01	8	10	0	84	2		0	0	0	0	0	2	1	1	114	358	0	83	2								-2.494375	0	1	121412	244	58	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC24	164118	broad.mit.edu	37	1	156552183	156552183	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156552183T>G	ENST00000368237.3	+	2	867	c.867T>G	c.(865-867)taT>taG	p.Y289*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.Y289*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24			20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				TCGGCAACTATCAGGAAGCTC	0.617000																								0							SO:0001587	stop_gained			ENST00000368237.3	0	1	hg19	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.357375|4.357375	0.82243|0.82243	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.38|4.38	-1.59|-1.59	0.08453|0.08453	.|.	.|0.322824	.|0.22670	.|N	.|0.057070	T|.	0.31136|.	0.0787|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19778|.	-1.0295|.	3|.	.|.	.|.	.|.	-7.8739|-7.8739	9.9833|9.9833	0.41826|0.41826	0.0:0.5843:0.0:0.4157|0.0:0.5843:0.0:0.4157	.|.	.|.	.|.	.|.	S|X	62;54|289	.|.	.|.	I|Y	+|+	2|3	0|2	TTC24|TTC24	154818807|154818807	0.000000|0.000000	0.05858|0.05858	0.830000|0.830000	0.32933|0.32933	0.834000|0.834000	0.47266|0.47266	-0.407000|-0.407000	0.07178|0.07178	-0.152000|-0.152000	0.11156|0.11156	0.379000|0.379000	0.24179|0.24179	ATC|TAT		TCGA-IB-7651-01A-11D-2154-08	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	1	0	1	33	120	0	28	0	4.921423e-02	0	2	0	28	2		0	0	0	0	0	2	1	1	31	118	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOA1BP	128240	broad.mit.edu	37	1	156563698	156563698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156563698C>T	ENST00000368235.3	+	6	732	c.689C>T	c.(688-690)gCt>gTt	p.A230V	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Silent_p.C211C	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein			9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				AAGGGAAATGCTGGAGGGATC	0.532000																								0							SO:0001583	missense			ENST00000368235.3	1	1	hg19	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711231	0.48517	.	.	ENSG00000163382	ENST00000446584;ENST00000368235	T	0.37411	1.2	4.86	4.86	0.63082	YjeF-related protein, N-terminal (5);	0.473392	0.23176	N	0.051061	T	0.12135	0.0295	N	0.12663	0.25	0.80722	D	1	B	0.11235	0.004	B	0.23018	0.043	T	0.06881	-1.0802	10	0.23302	T	0.38	.	16.5957	0.84795	0.0:1.0:0.0:0.0	.	230	Q8NCW5	AIBP_HUMAN	V	248;230	ENSP00000357218:A230V	ENSP00000357218:A230V	A	+	2	0	APOA1BP	154830322	0.432000	0.25554	0.553000	0.28255	0.656000	0.38851	4.888000	0.63164	2.223000	0.72356	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	1	0	1	196	681	0	187	1	1	233	305	0	187	2		0	0	0	0	0	2	1	1	192	670	0	185	2								-20.000000	1	1	121412	1	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCAN	63827	broad.mit.edu	37	1	156617305	156617305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156617305G>A	ENST00000329117.5	+	4	808	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.V158I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican			55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				CACAGGGGTCGTCTTTCTCTA	0.627000																								0							SO:0001583	missense			ENST00000329117.5	1	1	hg19	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667133	0.88251	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.15	4.15	0.48705	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.51477	D	0.000090	T	0.36220	0.0959	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;0.981	D;P	0.74674	0.984;0.888	T	0.29212	-1.0019	10	0.72032	D	0.01	-24.0919	15.1361	0.72566	0.0:0.0:1.0:0.0	.	158;158	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	I	158;158;56;158	ENSP00000331210:V158I;ENSP00000389898:V158I;ENSP00000401709:V56I;ENSP00000354925:V158I	ENSP00000331210:V158I	V	+	1	0	BCAN	154883929	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.494000	0.97962	2.120000	0.65058	0.442000	0.29010	GTC		TCGA-IB-7651-01A-11D-2154-08	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	1	0	1	49	244	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	48	240	0	44	2								-20.000000	1	1	121342	4	35	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCAN	63827	broad.mit.edu	37	1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156618630G>A	ENST00000329117.5	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R347H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican			55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				AAGCACAGCCGCTTCAACGTC	0.572000																								0							SO:0001583	missense			ENST00000329117.5	1	1	hg19	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480788	0.84747	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12465	2.68;2.68	4.72	4.72	0.59763	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.102141	0.41194	D	0.000921	T	0.23532	0.0569	M	0.67517	2.055	0.51482	D	0.999921	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.86	T	0.00605	-1.1648	10	0.87932	D	0	-17.4487	10.0728	0.42343	0.093:0.0:0.907:0.0	.	347;347	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	288;347;347	ENSP00000331210:R347H;ENSP00000354925:R347H	ENSP00000255029:R288H	R	+	2	0	BCAN	154885254	0.780000	0.28664	1.000000	0.80357	0.984000	0.73092	3.661000	0.54503	2.453000	0.82957	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	0	0	1	225	624	0	157	0	0	1	0	0	157	2		0	0	0	0	0	2	1	1	225	617	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NES	10763	broad.mit.edu	37	1	156639369	156639369	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639369G>T	ENST00000368223.3	-	4	4743	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin			64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				TGGGACCCTGGCCATTAACAC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000368223.3	1	1	hg19	CCDS1151.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	0	44	493	0	115	0	9.999654e-01	1	169	0	115	2		0	0	0	0	0	2	1	1	43	474	0	115	2								-12.115210	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.770000	1.000000	1.000000	0.965678	0.990000	1	9.000000e-01	1
NES	10763	broad.mit.edu	37	1	156639791	156639791	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639791G>A	ENST00000368223.3	-	4	4321	c.4189C>T	c.(4189-4191)Cta>Tta	p.L1397L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin			64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				GGATCCAGTAGCAGCTGGGGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000368223.3	1	1	hg19	CCDS1151.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	1	72	237	0	68	0	1	0	101	0	68	2		0	0	0	0	0	2	1	1	70	230	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NES	10763	broad.mit.edu	37	1	156640644	156640644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156640644G>A	ENST00000368223.3	-	4	3468	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin			64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				TGGTCAGATGGCCTGGGTCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000368223.3	1	1	hg19	CCDS1151.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	0	45	266	0	45	0	4.932953e-01	0	11	0	45	2		0	0	0	0	0	2	1	1	44	264	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NES	10763	broad.mit.edu	37	1	156641102	156641102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641102C>A	ENST00000368223.3	-	4	3010	c.2878G>T	c.(2878-2880)Gaa>Taa	p.E960*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin			64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				TGAGCCAGTTCTTGGTCCTTC	0.567000																								0							SO:0001587	stop_gained			ENST00000368223.3	0	1	hg19	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	39	7.592787	0.98378	.	.	ENSG00000132688	ENST00000368223	.	.	.	5.22	5.22	0.72569	.	0.255042	0.20715	N	0.087003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.3428	0.87301	0.0:1.0:0.0:0.0	.	.	.	.	X	960	.	ENSP00000357206:E960X	E	-	1	0	NES	154907726	0.046000	0.20272	0.009000	0.14445	0.016000	0.09150	3.680000	0.54641	2.454000	0.82982	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	0	0	0	125	1383	1	279	0	9.997088e-01	0	177	1	279	4		0	0	0	0	0	2	1	1	125	1345	1	277	19								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.880000	1.000000	1.000000	0.987188	0.990000	1	9.600000e-01	1
NES	10763	broad.mit.edu	37	1	156641406	156641406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641406C>T	ENST00000368223.3	-	4	2706	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin			64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				GATTCATTGCCCCCTGATTTA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000368223.3	1	1	hg19	CCDS1151.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	0	60	537	0	94	0	9.988704e-01	0	91	0	94	2		0	0	0	0	0	2	1	1	57	526	0	93	2								-18.519760	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998792	0.990000	1	9.900000e-01	1
NES	10763	broad.mit.edu	37	1	156641882	156641882	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641882G>T	ENST00000368223.3	-	4	2230	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin			64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				AGAGACCTCAGGGGTTCCTGA	0.468000																								0							SO:0001583	missense			ENST00000368223.3	1	1	hg19	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215857	0.58452	.	.	ENSG00000132688	ENST00000368223	D	0.88896	-2.44	5.4	2.47	0.30058	.	0.809762	0.09720	N	0.764638	T	0.81088	0.4750	L	0.52573	1.65	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.69888	-0.5023	10	0.49607	T	0.09	.	8.9551	0.35812	0.0785:0.2821:0.6394:0.0	.	700	P48681	NEST_HUMAN	M	700	ENSP00000357206:L700M	ENSP00000357206:L700M	L	-	1	2	NES	154908506	0.222000	0.23652	0.000000	0.03702	0.231000	0.25187	0.619000	0.24388	0.248000	0.21435	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	1	0	1	102	264	0	46	0	1	0	93	0	46	2		0	0	0	0	0	2	1	1	100	261	0	44	2								-6.901265	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRABP2	1382	broad.mit.edu	37	1	156670843	156670843	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156670843C>T	ENST00000368222.3	-	2	226	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CRABP2_ENST00000368221.1_Splice_Site_p.G24G	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2			6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)			Alitretinoin(DB00523)|Tretinoin(DB00755)	TCACATTCACCCCTGTGGGGA	0.542000																								0							SO:0001630	splice_region_variant			ENST00000368222.3	1	0	hg19	CCDS1152.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	1	0	0	22	260	0	69	0	6.218181e-01	0	26	0	69	2		0	0	0	0	0	2	1	9.999987e-01	22	254	0	69	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.650000	1.000000	1.000000	0.929800	0.990000	1	8.100000e-01	1
ISG20L2	81875	broad.mit.edu	37	1	156694029	156694029	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156694029G>T	ENST00000313146.6	-	2	1641	c.859C>A	c.(859-861)Ccc>Acc	p.P287T	ISG20L2_ENST00000368219.1_Missense_Mutation_p.P287T|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2			16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				TTGAGGGGGGGGATATGGGAG	0.557000																								0							SO:0001583	missense			ENST00000313146.6	1	0	hg19	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326395	0.81690	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.28666	1.6;1.6	5.73	5.73	0.89815	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.061390	0.64402	D	0.000003	T	0.49081	0.1536	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.30765	-0.9967	10	0.24483	T	0.36	.	18.4663	0.90757	0.0:0.0:1.0:0.0	.	287	Q9H9L3	I20L2_HUMAN	T	287	ENSP00000323424:P287T;ENSP00000357202:P287T	ENSP00000323424:P287T	P	-	1	0	ISG20L2	154960653	1.000000	0.71417	0.206000	0.23566	0.874000	0.50279	9.332000	0.96446	2.722000	0.93159	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	1	0	1	51	486	0	82	1	9.999995e-01	22	180	0	82	2		0	0	0	0	0	2	1	1	50	463	0	78	2								-15.152970	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.920000	1.000000	1.000000	0.995256	0.990000	1	9.900000e-01	1
HDGF	3068	broad.mit.edu	37	1	156714810	156714810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156714810G>T	ENST00000357325.5	-	3	607	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor			9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)			CTGATAGCCGGAAGCCTTGAC	0.587000																								0							SO:0001583	missense			ENST00000357325.5	1	1	hg19	CCDS1156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.472347|2.472347	0.43942|0.43942	.|.	.|.	ENSG00000143321|ENSG00000143321	ENST00000406805|ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.172694	.|0.40908	.|U	.|0.001000	T|T	0.73644|0.73644	0.3613|0.3613	M|M	0.72353|0.72353	2.195|2.195	0.31276|0.31276	N|N	0.691222|0.691222	.|D;P;D;D;D	.|0.61080	.|0.989;0.902;0.989;0.989;0.963	.|P;P;P;P;P	.|0.56916	.|0.809;0.761;0.809;0.809;0.703	T|T	0.74241|0.74241	-0.3729|-0.3729	6|10	0.12103|0.87932	T|D	0.63|0	-8.5412|-8.5412	14.8085|14.8085	0.69977|0.69977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;98;114;91;98	.|B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.|.;.;.;.;HDGF_HUMAN	T|Y	98|98;91;98;66;114	.|ENSP00000349878:S98Y;ENSP00000357192:S91Y;ENSP00000443120:S98Y;ENSP00000416752:S66Y;ENSP00000357189:S114Y	ENSP00000438398:P98T|ENSP00000349878:S98Y	P|S	-|-	1|2	0|0	HDGF|HDGF	154981434|154981434	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.493000|0.493000	0.33554|0.33554	5.138000|5.138000	0.64795|0.64795	2.378000|2.378000	0.81104|0.81104	0.306000|0.306000	0.20318|0.20318	CCG|TCC		TCGA-IB-7651-01A-11D-2154-08	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	1	0	1	131	461	0	106	1	1	965	1259	0	106	2		0	0	0	0	0	2	1	1	129	451	0	103	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRCC	5546	broad.mit.edu	37	1	156764479	156764479	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156764479G>T	ENST00000271526.4	+	5	1474	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	PRCC_ENST00000353233.3_Missense_Mutation_p.R369M	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)		PRCC/TFE3(25)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				CAGGGCAAGAGGAACCGAGGG	0.478000			T	TFE3	papillary renal										Dom	yes		1	1q21.1	5546	papillary renal cell carcinoma (translocation-associated)		E	0							SO:0001583	missense			ENST00000271526.4	1	1	hg19	CCDS1157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.956318|3.956318	0.73902|0.73902	.|.	.|.	ENSG00000143294|ENSG00000143294	ENST00000454659|ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.059757	.|0.64402	.|D	.|0.000003	.|T	.|0.42966	.|0.1226	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.76494	.|0.999;0.991	.|P;P	.|0.59825	.|0.864;0.747	.|T	.|0.48614	.|-0.9020	.|10	.|0.66056	.|D	.|0.02	-14.926|-14.926	16.6585|16.6585	0.85235|0.85235	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|369;401	.|A6NG79;Q92733	.|.;PRCC_HUMAN	X|M	167|401;369;377;108	.|ENSP00000271526:R401M;ENSP00000339300:R369M;ENSP00000434762:R108M	.|ENSP00000271526:R401M	G|R	+|+	1|2	0|0	PRCC|PRCC	155031103|155031103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.765000|0.765000	0.43378|0.43378	6.798000|6.798000	0.75155|0.75155	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	GGA|AGG		TCGA-IB-7651-01A-11D-2154-08	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	0	0	0	8	205	0	43	1	9.915587e-01	12	211	0	43	2		0	0	0	0	0	2	1	9.887254e-01	8	200	0	43	2								-10.021490	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.500000	0.230000	0.880000	0.480000	0.525316	0.500000	0	3.500000e-01	6.900000e-01
SH2D2A	9047	broad.mit.edu	37	1	156779246	156779246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156779246C>T	ENST00000368199.3	-	7	904	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	SH2D2A_ENST00000392306.2_Missense_Mutation_p.A261T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A			18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				TGAGGTTTGGCGGGGATGGGA	0.637000																								0							SO:0001583	missense			ENST00000368199.3	1	1	hg19	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312911	0.40895	2.27E-4	0.0	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.60920	0.19;0.15;0.6	3.92	3.0	0.34707	.	0.769781	0.11950	N	0.513770	T	0.34193	0.0889	L	0.34521	1.04	0.21984	N	0.999432	D;D;D	0.61697	0.99;0.983;0.983	P;B;B	0.49192	0.602;0.397;0.397	T	0.05289	-1.0894	10	0.33141	T	0.24	-9.6279	9.5505	0.39306	0.0:0.8926:0.0:0.1074	.	261;233;251	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	251;233;261	ENSP00000357182:A251T;ENSP00000357181:A233T;ENSP00000376123:A261T	ENSP00000357181:A233T	A	-	1	0	SH2D2A	155045870	0.704000	0.27836	0.424000	0.26647	0.690000	0.40134	1.018000	0.30002	0.984000	0.38629	-0.266000	0.10368	GCC		TCGA-IB-7651-01A-11D-2154-08	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	1	0	1	104	483	0	75	1	9.966253e-01	2	40	0	75	2		0	0	0	0	0	2	1	1	99	466	0	72	2								-2.416290	0	1	121412	4	37	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INSRR	3645	broad.mit.edu	37	1	156813243	156813243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156813243G>T	ENST00000368195.3	-	16	3268	c.2872C>A	c.(2872-2874)Cca>Aca	p.P958T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor			42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				AAGTACTCTGGATTCACAGAA	0.537000																								0							SO:0001583	missense			ENST00000368195.3	1	1	hg19	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524442	0.85600	.	.	ENSG00000027644	ENST00000368195	D	0.88975	-2.45	5.12	5.12	0.69794	.	0.000000	0.46758	D	0.000275	D	0.93654	0.7973	.	.	.	0.58432	D	0.999997	D	0.71674	0.998	D	0.74348	0.983	D	0.94153	0.7407	9	0.87932	D	0	.	16.0824	0.81014	0.0:0.0:1.0:0.0	.	958	P14616	INSRR_HUMAN	T	958	ENSP00000357178:P958T	ENSP00000357178:P958T	P	-	1	0	INSRR	155079867	1.000000	0.71417	0.880000	0.34516	0.970000	0.65996	6.042000	0.70996	2.649000	0.89929	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	1	0	1	196	986	0	219		0	0	0	0	219	2		0	0	0	0	0	2	1	1	192	952	0	216	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INSRR	3645	broad.mit.edu	37	1	156819222	156819222	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156819222C>T	ENST00000368195.3	-	6	1656	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor			42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				GTTGTAGGTTCTGGTTGTCCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000368195.3	1	1	hg19	CCDS1160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	1	0	0	28	615	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	28	603	0	95	2								-3.314080	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.550000	0.370000	0.770000	0.550000	0.571009	0.550000	0	4.600000e-01	6.700000e-01
NTRK1	4914	broad.mit.edu	37	1	156849945	156849945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156849945C>T	ENST00000524377.1	+	16	2242	c.2201C>T	c.(2200-2202)aCg>aTg	p.T734M	NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000368196.3_Missense_Mutation_p.T728M|NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1			74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)			Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTCTCCAACACGGAGGTCAGC	0.622000			T	TPM3, TPR, TFG	papillary thyroid					TSP Lung(10;0.080)					Dom	yes		1	1q21-q22	4914	neurotrophic tyrosine kinase, receptor, type 1		E	0							SO:0001583	missense			ENST00000524377.1	1	1	hg19	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762238	0.49468	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.08	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108957	0.40908	D	0.000983	T	0.78407	0.4278	N	0.12502	0.225	0.45318	D	0.998313	P;B;D;D	0.89917	0.539;0.256;0.999;1.0	B;B;P;D	0.72075	0.164;0.041;0.807;0.976	T	0.82376	-0.0488	10	0.48119	T	0.1	.	15.3924	0.74755	0.0:1.0:0.0:0.0	.	731;728;734;698	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	698;728;734;731	ENSP00000376120:T698M;ENSP00000357179:T728M;ENSP00000431418:T734M;ENSP00000351486:T731M	ENSP00000351486:T731M	T	+	2	0	NTRK1	155116569	0.083000	0.21467	0.992000	0.48379	0.801000	0.45260	0.449000	0.21744	2.273000	0.75805	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	1	0	1	71	384	0	61	0	2.511156e-02	0	2	0	61	2		0	0	0	0	0	2	1	1	71	379	0	60	2								-20.000000	1	1	121408	6	37	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEAR1	375033	broad.mit.edu	37	1	156876547	156876547	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156876547C>T	ENST00000338302.3	+	7	744	c.519C>T	c.(517-519)aaC>aaT	p.N173N	PEAR1_ENST00000292357.7_Silent_p.N173N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1			43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				AGCCCCCGAACTGCCTTCAGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000338302.3	1	1	hg19	CCDS30892.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	1	0	1	150	477	1	100	1	9.869693e-01	3	28	1	100	3		0	0	0	0	0	2	1	1	148	462	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF11	9826	broad.mit.edu	37	1	156913859	156913859	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156913859G>T	ENST00000361409.2	-	31	3725	c.2983C>A	c.(2983-2985)Ctg>Atg	p.L995M	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L1035M	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11			81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				TTCTGTAGCAGCACTAGGAGG	0.562000																								0							SO:0001583	missense			ENST00000361409.2	1	1	hg19	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736121	0.69189	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.67523	-0.27;-0.27;-0.27	5.18	1.18	0.20946	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.42682	D	0.000677	T	0.75649	0.3878	M	0.88775	2.98	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77208	-0.2672	10	0.72032	D	0.01	-11.0609	8.5813	0.33630	0.3803:0.0:0.6197:0.0	.	411;995;1035	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	M	1035;995;411	ENSP00000357177:L1035M;ENSP00000354644:L995M;ENSP00000313470:L411M	ENSP00000313470:L411M	L	-	1	2	ARHGEF11	155180483	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.756000	0.47549	0.345000	0.23873	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	1	0	1	76	449	0	94	1	9.997438e-01	17	56	0	94	2		0	0	0	0	0	2	1	1	75	440	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF11	9826	broad.mit.edu	37	1	156928923	156928923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156928923G>A	ENST00000361409.2	-	15	1916	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R432W	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11			81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				TCGCTGTTCCGCAGGCGCGAG	0.577000																								0							SO:0001583	missense			ENST00000361409.2	1	1	hg19	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456397	0.43634	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.82803	-1.65;-1.65	4.69	3.78	0.43462	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.50627	D	0.000108	T	0.80649	0.4663	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.984	T	0.80393	-0.1401	10	0.38643	T	0.18	-19.5508	11.0799	0.48053	0.0875:0.0:0.9125:0.0	.	392;432	O15085;O15085-2	ARHGB_HUMAN;.	W	432;392	ENSP00000357177:R432W;ENSP00000354644:R392W	ENSP00000354644:R392W	R	-	1	2	ARHGEF11	155195547	1.000000	0.71417	0.810000	0.32431	0.027000	0.11550	7.354000	0.79424	1.204000	0.43247	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	1	0	1	38	135	0	30	1	9.999820e-01	15	49	0	30	2		0	0	0	0	0	2	1	1	35	129	0	30	2								-20.000000	1	1	121412	5	37	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF11	9826	broad.mit.edu	37	1	156933060	156933060	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156933060A>C	ENST00000361409.2	-	12	1697	c.955T>G	c.(955-957)Tct>Gct	p.S319A	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S359A	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11			81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				GCTGGCCGAGACTTCAGTTTC	0.537000																								0							SO:0001583	missense			ENST00000361409.2	1	1	hg19	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616613	0.46736	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.83673	-1.75;-1.75	5.56	3.1	0.35709	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.290213	0.24604	N	0.037108	T	0.62380	0.2423	L	0.47016	1.485	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.63778	-0.6560	10	0.54805	T	0.06	-7.3991	6.1864	0.20500	0.4942:0.2718:0.0:0.234	.	319;359	O15085;O15085-2	ARHGB_HUMAN;.	A	359;319	ENSP00000357177:S359A;ENSP00000354644:S319A	ENSP00000354644:S319A	S	-	1	0	ARHGEF11	155199684	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	1.504000	0.35726	0.938000	0.37419	0.533000	0.62120	TCT		TCGA-IB-7651-01A-11D-2154-08	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	1	0	1	13	166	0	41	1	9.002775e-01	5	49	0	41	2		0	0	0	0	0	2	1	9.995651e-01	13	164	0	40	2								-17.671170	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.940000	0.530000	1.000000	1.000000	0.884499	0.940000	1	7.100000e-01	1
ETV3L	440695	broad.mit.edu	37	1	157069139	157069139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157069139G>A	ENST00000454449.2	-	2	374	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like			24	Hepatocellular(266;0.158)	Prostate(1639;0.184)			GGGACGACTCGGCTTTGTAGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000454449.2	1	1	hg19	CCDS30893.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	1	0	1	112	198	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	111	195	0	61	2								-13.762600	1	1	121412	1	30	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCRL5	83416	broad.mit.edu	37	1	157490923	157490923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157490923G>A	ENST00000361835.3	-	11	2556	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5			85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)			CGCTCCTCCAGAGGGGGACGA	0.577000																								0							SO:0001583	missense			ENST00000361835.3	1	1	hg19	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747371	0.30955	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.15017	2.46;2.46	5.34	-0.515	0.11954	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	20.103400	0.00639	U	0.000514	T	0.09949	0.0244	L	0.53249	1.67	0.54753	D	0.999981	P;P	0.51351	0.858;0.944	B;P	0.51550	0.326;0.673	T	0.56329	-0.7997	10	0.17369	T	0.5	.	2.7429	0.05258	0.3224:0.0:0.3374:0.3402	.	800;800	A6NJE8;Q96RD9	.;FCRL5_HUMAN	F	800	ENSP00000354691:S800F;ENSP00000349434:S800F	ENSP00000349434:S800F	S	-	2	0	FCRL5	155757547	0.001000	0.12720	0.861000	0.33841	0.509000	0.34042	0.176000	0.16782	0.030000	0.15379	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1	98	514	0	131	0	5.479798e-01	0	11	0	131	2		0	0	0	0	0	2	1	1	97	506	0	131	2								-2.882253	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCRL5	83416	broad.mit.edu	37	1	157494130	157494130	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157494130G>T	ENST00000361835.3	-	10	2335	c.2178C>A	c.(2176-2178)tcC>tcA	p.S726S	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000356953.4_Silent_p.S726S|FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000368190.3_Silent_p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5			85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)			CTGCCTCACAGGAGTAGATTC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000361835.3	1	1	hg19	CCDS1165.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1	138	342	0	99	0	9.999996e-01	0	56	0	99	2		0	0	0	0	0	2	1	1	138	337	0	99	2								-8.922901	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCRL5	83416	broad.mit.edu	37	1	157497598	157497598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157497598G>A	ENST00000361835.3	-	9	1926	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	p.P590L(1)		85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)			AGAGCCTCTCGGGGCCTCACA	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000361835.3	1	1	hg19	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856532	0.02630	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03301	3.98;3.98;3.98;3.98	3.53	-7.06	0.01568	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.291230	0.02368	N	0.077557	T	0.00356	0.0011	N	0.01742	-0.745	0.09310	N	1	B;B;B;B	0.14438	0.001;0.0;0.01;0.01	B;B;B;B	0.12837	0.003;0.002;0.008;0.003	T	0.47302	-0.9128	10	0.20046	T	0.44	.	0.9691	0.01412	0.2751:0.1071:0.3055:0.3123	.	505;590;590;590	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	L	590;590;590;505	ENSP00000354691:P590L;ENSP00000349434:P590L;ENSP00000357173:P590L;ENSP00000357174:P505L	ENSP00000349434:P590L	P	-	2	0	FCRL5	155764222	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.865000	0.04250	-1.601000	0.01601	-1.153000	0.01818	CCG		TCGA-IB-7651-01A-11D-2154-08	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1	96	401	0	103	0	9.949883e-01	0	36	0	103	2		0	0	0	0	0	2	1	1	95	395	0	99	2								-2.889641	1	1	121412	4	35	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCRL5	83416	broad.mit.edu	37	1	157504525	157504525	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157504525G>T	ENST00000361835.3	-	8	1717	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000356953.4_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000368190.3_Silent_p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5			85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)			TTCCCACAGAGGGTGTTGAGC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000361835.3	1	1	hg19	CCDS1165.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1	39	194	0	48	0	9.493060e-01	0	27	0	48	2		0	0	0	0	0	2	1	1	38	192	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCRL5	83416	broad.mit.edu	37	1	157514222	157514222	+	Missense_Mutation	SNP	C	C	T	rs138632023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157514222C>T	ENST00000361835.3	-	5	831	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5			85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)			GAAGCGGAACCGGAGCGGGAC	0.562000																								0							SO:0001583	missense			ENST00000361835.3	1	1	hg19	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598003	0.03771	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.11	-3.42	0.04825	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.411730	0.01206	N	0.007709	T	0.00524	0.0017	N	0.00471	-1.455	0.09310	N	0.999999	B;B;B;B;B	0.17667	0.02;0.018;0.022;0.023;0.022	B;B;B;B;B	0.11329	0.003;0.002;0.006;0.003;0.006	T	0.38802	-0.9644	10	0.02654	T	1	.	3.2017	0.06652	0.2813:0.2646:0.0:0.4541	.	140;225;225;225;225	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	Q	225;225;225;140;225	ENSP00000354691:R225Q;ENSP00000349434:R225Q;ENSP00000357173:R225Q;ENSP00000357174:R140Q;ENSP00000357172:R225Q	ENSP00000349434:R225Q	R	-	2	0	FCRL5	155780846	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.450000	0.06803	-0.872000	0.04037	-0.624000	0.04008	CGG		TCGA-IB-7651-01A-11D-2154-08	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	1	0	1	146	716	0	159	0	9.955829e-01	0	42	0	159	2		0	0	0	0	0	2	1	1	141	699	0	157	2								-2.750000	1	1	121412	7	43	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFHD2	79180	broad.mit.edu	37	1	15753776	15753776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15753776C>T	ENST00000375980.4	+	3	664	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2			2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)			TTCTTTGAGGCCAAGGTGAGG	0.642000																								0							SO:0001583	missense			ENST00000375980.4	0	1	hg19	CCDS155.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120565	0.77323	.	.	ENSG00000142634	ENST00000375980;ENST00000375975	T	0.47528	0.84	4.07	4.07	0.47477	.	0.059184	0.64402	D	0.000003	T	0.72244	0.3436	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79269	-0.1873	10	0.87932	D	0	-25.3155	15.7247	0.77747	0.0:1.0:0.0:0.0	.	196	Q96C19	EFHD2_HUMAN	V	196;97	ENSP00000365147:A196V	ENSP00000365142:A97V	A	+	2	0	EFHD2	15626363	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	7.780000	0.85658	2.209000	0.71365	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	0	0	1	4	48	0	11	1	9.999568e-01	110	375	0	11	2		0	0	0	0	0	2	1	8.884187e-01	4	47	0	11	2								-8.799519	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.650000	0.250000	0.920000	0.720000	0.640172	0.650000	0	4.300000e-01	8.400000e-01
FCRL4	83417	broad.mit.edu	37	1	157551412	157551412	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157551412G>A	ENST00000271532.1	-	7	1293	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4			40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)			CGGCGACAAGGCCATCTCTGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000271532.1	1	1	hg19	CCDS1166.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	1	0	0	60	147	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	57	145	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFHD2	79180	broad.mit.edu	37	1	15755181	15755181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15755181G>A	ENST00000375980.4	+	4	761	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2			2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)			TGAAGCAGCGGAAAGCGGCCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000375980.4	0	1	hg19	CCDS155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745074|2.745074	0.49151|0.49151	.|.	.|.	ENSG00000142634|ENSG00000142634	ENST00000375975|ENST00000445566	.|.	.|.	.|.	4.37|4.37	1.22|1.22	0.21188|0.21188	.|.	.|.	.|.	.|.	.|.	T|T	0.54029|0.54029	0.1833|0.1833	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44421|0.44421	-0.9329|-0.9329	5|4	0.87932|.	D|.	0|.	-9.0778|-9.0778	6.9481|6.9481	0.24530|0.24530	0.1814:0.4067:0.4119:0.0|0.1814:0.4067:0.4119:0.0	.|.	.|.	.|.	.|.	K|E	167|168	.|.	ENSP00000365142:E167K|.	E|G	+|+	1|2	0|0	EFHD2|EFHD2	15627768|15627768	0.103000|0.103000	0.21917|0.21917	0.999000|0.999000	0.59377|0.59377	0.867000|0.867000	0.49689|0.49689	-0.305000|-0.305000	0.08188|0.08188	0.357000|0.357000	0.24183|0.24183	0.462000|0.462000	0.41574|0.41574	GAA|GGA		TCGA-IB-7651-01A-11D-2154-08	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	1	0	0	7	48	0	15	1	9.999999e-01	81	372	0	15	2		0	0	0	0	0	2	1	9.776817e-01	6	45	0	15	2								-13.892740	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.790000	0.440000	0.940000	0.930000	0.769978	0.790000	0	6.200000e-01	9.000000e-01
FCRL3	115352	broad.mit.edu	37	1	157660291	157660291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157660291C>T	ENST00000368184.3	-	9	1735	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3			69	all_hematologic(112;0.0378)				GCCCCGGGAGCCCTGAGGGTG	0.537000																								0							SO:0001583	missense			ENST00000368184.3	1	1	hg19	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	4.823	0.153079	0.09185	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03301	3.98;3.98	4.21	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.517600	0.04711	N	0.417545	T	0.01558	0.0050	L	0.44542	1.39	0.09310	N	1	B;B;B	0.30526	0.283;0.225;0.24	B;B;B	0.40329	0.326;0.18;0.219	T	0.48293	-0.9048	10	0.35671	T	0.21	.	2.5846	0.04827	0.1317:0.5025:0.1644:0.2014	.	482;387;482	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	T	482	ENSP00000357169:A482T;ENSP00000357167:A482T	ENSP00000292392:A482T	A	-	1	0	FCRL3	155926915	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.003000	0.13083	-0.174000	0.10743	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	0	0	1	115	362	0	94	0	2.482112e-01	0	4	0	94	2		0	0	0	0	0	2	1	1	114	356	0	92	2								-20.000000	1	1	121406	1	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCRL3	115352	broad.mit.edu	37	1	157667073	157667073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157667073G>A	ENST00000368184.3	-	6	992	c.701C>T	c.(700-702)aCc>aTc	p.T234I	FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3			69	all_hematologic(112;0.0378)				CAATCCGAGGGTCTGGCTATC	0.582000																								0							SO:0001583	missense			ENST00000368184.3	1	1	hg19	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	5.341	0.248244	0.10130	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12255	2.7;2.7	5.54	-1.18	0.09617	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	4.119430	0.00597	N	0.000368	T	0.02342	0.0072	L	0.38733	1.17	0.09310	N	1	B;B	0.28713	0.057;0.22	B;B	0.29663	0.105;0.092	T	0.28618	-1.0038	10	0.10111	T	0.7	.	1.2899	0.02058	0.3018:0.2438:0.3299:0.1245	.	234;234	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	234	ENSP00000357169:T234I;ENSP00000357167:T234I	ENSP00000292392:T234I	T	-	2	0	FCRL3	155933697	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.179000	0.03090	-0.205000	0.10219	0.491000	0.48974	ACC		TCGA-IB-7651-01A-11D-2154-08	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	1	0	1	120	396	0	102	0	2.348254e-01	0	4	0	102	2		0	0	0	0	0	2	1	1	117	388	0	100	2								-20.000000	1	1	121410	1	28	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCRL1	115350	broad.mit.edu	37	1	157771268	157771268	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157771268C>T	ENST00000368176.3	-	6	1053	c.986G>A	c.(985-987)gGc>gAc	p.G329D	FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1			42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)		TCTTTTGAGGCCGTAGCAAAA	0.443000													GBM(54;482 1003 11223 30131 35730)											0							SO:0001583	missense			ENST00000368176.3	1	1	hg19	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868592	0.32977	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.38077	1.16;1.19	5.35	4.43	0.53597	.	1.011940	0.07905	N	0.973270	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	0.99999	D;P	0.55172	0.97;0.627	P;B	0.50825	0.651;0.184	T	0.02417	-1.1162	10	0.32370	T	0.25	.	9.2445	0.37518	0.0:0.9058:0.0:0.0942	.	329;329	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	D	329	ENSP00000357158:G329D;ENSP00000418130:G329D	ENSP00000357158:G329D	G	-	2	0	FCRL1	156037892	0.574000	0.26684	0.864000	0.33941	0.132000	0.20833	1.796000	0.38794	2.941000	0.99782	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	1	0	1	75	381	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	73	375	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD5L	922	broad.mit.edu	37	1	157804531	157804531	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157804531C>T	ENST00000368174.4	-	4	480	c.384G>A	c.(382-384)gaG>gaA	p.E128E	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like			52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)		AGAAAGAGCTCTCTGGGTCTG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000368174.4	1	1	hg19	CCDS1171.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	1	0	0	108	304	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	107	293	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK11B	984	broad.mit.edu	37	1	1580536	1580536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1580536G>A	ENST00000407249.3	-	7	590	c.591C>T	c.(589-591)cgC>cgT	p.R197R	CDK11B_ENST00000340677.5_Silent_p.R184R|CDK11B_ENST00000317673.7_Silent_p.R195R|CDK11B_ENST00000341832.6_Silent_p.R150R			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B			12					CCCGCCGCTCGCGCTCCTTCT	0.706000																								0							SO:0001819	synonymous_variant			ENST00000407249.3	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	12	98	0	20	0	0	0	1	0	20	2		0	0	0	0	0	2	1	9.726966e-01	8	45	0	32	2								-19.347020	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.850000	0.540000	1.000000	0.990000	0.840263	0.850000	1	7.000000e-01	9.600000e-01
KIRREL	55243	broad.mit.edu	37	1	158064849	158064849	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158064849A>G	ENST00000359209.6	+	15	2280	c.2213A>G	c.(2212-2214)tAc>tGc	p.Y738C	KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000368172.1_Missense_Mutation_p.Y552C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)			38	all_hematologic(112;0.0378)				CGATTCTCCTACACCTCCCAG	0.652000																								0							SO:0001583	missense			ENST00000359209.6	1	1	hg19	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111895	0.77210	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;D;D;D;D;T	0.86497	-1.15;-2.13;-1.55;-1.74;-1.68;-1.37	5.0	5.0	0.66597	.	0.000000	0.39274	N	0.001417	D	0.85890	0.5802	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	D	0.87188	0.2232	10	0.45353	T	0.12	-20.5602	12.6627	0.56824	1.0:0.0:0.0:0.0	.	638;574;552;738	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	574;754;635;738;638;552	ENSP00000353202:Y574C;ENSP00000357155:Y754C;ENSP00000376098:Y635C;ENSP00000352138:Y738C;ENSP00000389674:Y638C;ENSP00000357154:Y552C	ENSP00000352138:Y738C	Y	+	2	0	KIRREL	156331473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.605000	0.90883	1.881000	0.54492	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	1	0	1	41	124	0	30	0	9.999999e-01	0	82	0	30	2		0	0	0	0	0	2	1	1	41	122	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD1D	912	broad.mit.edu	37	1	158152911	158152911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158152911G>A	ENST00000368171.3	+	5	1350	c.851G>A	c.(850-852)aGc>aAc	p.S284N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule			30	all_hematologic(112;0.0378)				GTGAAGCACAGCAGTCTAGAG	0.607000																								0							SO:0001583	missense			ENST00000368171.3	1	1	hg19	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915095	0.73098	.	.	ENSG00000158473	ENST00000368171	T	0.03124	4.04	5.3	3.42	0.39159	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.64402	D	0.000012	T	0.12178	0.0296	M	0.94021	3.485	0.30875	N	0.732041	D	0.71674	0.998	D	0.78314	0.991	T	0.06607	-1.0817	10	0.87932	D	0	-21.1727	8.3195	0.32121	0.185:0.0:0.815:0.0	.	284	P15813	CD1D_HUMAN	N	284	ENSP00000357153:S284N	ENSP00000357153:S284N	S	+	2	0	CD1D	156419535	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.371000	0.59523	0.722000	0.32252	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	0	0	0	13	426	0	70	0	1.785990e-01	0	24	0	70	2		0	0	0	0	0	2	1	9.994734e-01	13	416	0	69	2								-12.201500	1	1	121410	1	28	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.380000	0.210000	0.610000	0.370000	0.402229	0.380000	0	2.900000e-01	5.000000e-01
CD1A	909	broad.mit.edu	37	1	158225026	158225026	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158225026T>C	ENST00000289429.5	+	2	744	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule			32	all_hematologic(112;0.0378)			Antithymocyte globulin(DB00098)	GTGCCCCTGGTCCAGGGGAAA	0.488000																								0							SO:0001583	missense			ENST00000289429.5	1	1	hg19	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327550	0.41197	.	.	ENSG00000158477	ENST00000289429	T	0.00724	5.78	4.54	3.38	0.38709	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.218281	0.23492	N	0.047600	T	0.01940	0.0061	M	0.87097	2.86	0.26685	N	0.971464	D	0.89917	1.0	D	0.83275	0.996	T	0.29971	-0.9994	10	0.87932	D	0	-18.9009	7.5545	0.27817	0.0:0.0:0.2395:0.7605	.	71	P06126	CD1A_HUMAN	P	71	ENSP00000289429:S71P	ENSP00000289429:S71P	S	+	1	0	CD1A	156491650	0.922000	0.31269	0.984000	0.44739	0.074000	0.17049	0.422000	0.21296	1.911000	0.55334	0.477000	0.44152	TCC		TCGA-IB-7651-01A-11D-2154-08	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	1	0	1	89	281	0	79	0	5.902447e-02	0	2	0	79	2		0	0	0	0	0	2	1	1	88	279	0	78	2								-20.000000	1	1	121412	2	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD1A	909	broad.mit.edu	37	1	158226772	158226772	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158226772G>T	ENST00000289429.5	+	4	1334	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule			32	all_hematologic(112;0.0378)			Antithymocyte globulin(DB00098)	CAACCCTGGAGGTGGCCGCTG	0.622000																								0							SO:0001583	missense			ENST00000289429.5	1	1	hg19	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292564	0.00245	.	.	ENSG00000158477	ENST00000289429	T	0.03242	4.0	3.84	-3.71	0.04424	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.522691	0.16162	N	0.226714	T	0.00271	0.0008	N	0.01522	-0.82	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	10	0.02654	T	1	-11.0955	2.3388	0.04254	0.1334:0.0943:0.2953:0.4769	.	267	P06126	CD1A_HUMAN	D	267	ENSP00000289429:E267D	ENSP00000289429:E267D	E	+	3	2	CD1A	156493396	0.116000	0.22171	0.099000	0.21106	0.162000	0.22319	-0.156000	0.10100	-0.858000	0.04110	-1.495000	0.00966	GAG		TCGA-IB-7651-01A-11D-2154-08	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	0	0	0	16	565	0	73	0	2.781029e-02	0	9	0	73	2		0	0	0	0	0	2	1	9.999124e-01	15	546	0	73	2								-3.380809	1	1	121412	1	31	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.350000	0.200000	0.550000	0.360000	0.370128	0.350000	0	2.700000e-01	4.500000e-01
CD1C	911	broad.mit.edu	37	1	158261152	158261152	+	Missense_Mutation	SNP	G	G	A	rs114534381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158261152G>A	ENST00000368170.3	+	2	569	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule			39	all_hematologic(112;0.0378)				GGATTAACTCGGGAGATTCAA	0.363000																								0							SO:0001583	missense			ENST00000368170.3	1	1	hg19	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	5.842	0.339525	0.11069	0.002497	2.33E-4	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.16897	2.31	3.52	-2.19	0.07015	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.350910	0.05551	N	0.567474	T	0.02455	0.0075	N	0.20986	0.625	0.09310	N	1	B	0.23990	0.095	B	0.12156	0.007	T	0.42732	-0.9434	10	0.21014	T	0.42	.	3.4483	0.07488	0.5132:0.0:0.2977:0.1891	.	97	P29017	CD1C_HUMAN	Q	97	ENSP00000357152:R97Q	ENSP00000357151:R97Q	R	+	2	0	CD1C	156527776	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.402000	0.02499	-0.414000	0.07495	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	0	0	1	124	347	0	88	0	3.971407e-01	0	5	0	88	2		0	0	0	0	0	2	1	1	124	345	0	88	2								-3.317758	1	1	121412	25	46	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD1B	910	broad.mit.edu	37	1	158299257	158299257	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299257G>A	ENST00000368168.3	-	4	896	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule			30	all_hematologic(112;0.0378)				GGGTTGCTCGGAGATACCATG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000368168.3	1	1	hg19	CCDS1176.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	1	0	1	118	586	0	119	0	0	0	1	0	119	2		0	0	0	0	0	2	1	1	114	576	0	118	2								-3.149533	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD1B	910	broad.mit.edu	37	1	158299849	158299849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299849C>A	ENST00000368168.3	-	3	507	c.400G>T	c.(400-402)Gga>Tga	p.G134*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule			30	all_hematologic(112;0.0378)				CCTAGAGCTCCCCTCAGGAAG	0.493000																								0							SO:0001587	stop_gained			ENST00000368168.3	0	1	hg19	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696383|3.696383	0.68386|0.68386	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|.	.|.	.|.	4.16|4.16	3.25|3.25	0.37280|0.37280	.|.	0.499782|0.499782	0.17023|0.17023	N|N	0.190023|0.190023	T|.	0.24812|.	0.0602|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07986|.	-1.0744|.	4|.	.|0.26408	.|T	.|0.33	0.004|0.004	7.9556|7.9556	0.30040|0.30040	0.0:0.8856:0.0:0.1144|0.0:0.8856:0.0:0.1144	.|.	.|.	.|.	.|.	V|X	101|134	.|.	.|ENSP00000357150:G134X	G|G	-|-	2|1	0|0	CD1B|CD1B	156566473|156566473	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.064000|0.064000	0.16182|0.16182	0.981000|0.981000	0.29526|0.29526	1.095000|1.095000	0.41419|0.41419	-0.136000|-0.136000	0.14681|0.14681	GGG|GGA		TCGA-IB-7651-01A-11D-2154-08	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	1	0	1	305	860	0	259		0	0	0	0	259	2		0	0	0	0	0	2	1	1	300	844	0	257	2								-9.836333	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD1B	910	broad.mit.edu	37	1	158301164	158301164	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158301164T>C	ENST00000368168.3	-	1	157	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule			30	all_hematologic(112;0.0378)				ATGTTCACTGTTACCACCAGG	0.478000																								0							SO:0001583	missense			ENST00000368168.3	1	1	hg19	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	T	5.734	0.319814	0.10845	.	.	ENSG00000158485	ENST00000368168	T	0.01252	5.1	3.14	1.98	0.26296	.	0.801389	0.10160	N	0.708393	T	0.00271	0.0008	N	0.02539	-0.55	0.09310	N	1	B;B	0.16802	0.019;0.002	B;B	0.24541	0.054;0.004	T	0.35525	-0.9785	10	0.24483	T	0.36	-7.4059	4.6335	0.12513	0.0:0.1632:0.0:0.8368	.	17;17	B4E0D2;P29016	.;CD1B_HUMAN	S	17	ENSP00000357150:N17S	ENSP00000357150:N17S	N	-	2	0	CD1B	156567788	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.552000	0.23376	0.569000	0.29329	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	1	0	1	61	144	0	40	0	9.071906e-02	0	2	0	40	2		0	0	0	0	0	2	1	1	60	143	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP9	842	broad.mit.edu	37	1	15832565	15832565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15832565G>T	ENST00000333868.5	-	5	734	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	CASP9_ENST00000348549.5_Intron|CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000546424.1_Missense_Mutation_p.L214M	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase			18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)			AGCAAAGCCAGCACCATTTTC	0.577000																								0							SO:0001583	missense			ENST00000333868.5	1	1	hg19	CCDS158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.46|13.46	2.244376|2.244376	0.39697|0.39697	.|.	.|.	ENSG00000132906|ENSG00000132906	ENST00000424908|ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522	.|T;T;T;T	.|0.20463	.|2.07;2.07;2.07;2.07	5.1|5.1	1.91|1.91	0.25777|0.25777	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	.|2.094920	.|0.01550	.|N	.|0.019639	T|T	0.32315|0.32315	0.0825|0.0825	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44478	.|0.774;0.836	.|P;P	.|0.52217	.|0.637;0.693	T|T	0.17018|0.17018	-1.0383|-1.0383	5|10	.|0.48119	.|T	.|0.1	.|.	6.7094|6.7094	0.23268|0.23268	0.0:0.1671:0.4634:0.3695|0.0:0.1671:0.4634:0.3695	.|.	.|214;214	.|P55211;F8VVS7	.|CASP9_HUMAN;.	D|M	55|214;214;58;131;131	.|ENSP00000449584:L214M;ENSP00000330237:L214M;ENSP00000365051:L131M;ENSP00000396540:L131M	.|ENSP00000330237:L214M	A|L	-|-	2|1	0|2	CASP9|CASP9	15705152|15705152	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.015000|0.015000	0.08874|0.08874	-0.298000|-0.298000	0.08265|0.08265	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	0	0	0	10	349	0	68	1	4.606179e-01	4	48	0	68	2		0	0	0	0	0	2	1	9.968043e-01	10	345	0	67	2								-9.929688	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.300000	0.150000	0.510000	0.290000	0.316769	0.300000	0	2.100000e-01	4.000000e-01
CD1E	913	broad.mit.edu	37	1	158325793	158325793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158325793T>C	ENST00000368167.3	+	4	1041	c.802T>C	c.(802-804)Tat>Cat	p.Y268H	CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000444681.2_Missense_Mutation_p.Y169H|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule			49	all_hematologic(112;0.0378)				CGAGACATGGTATCTCCGAGC	0.602000																								0							SO:0001583	missense			ENST00000368167.3	0	1	hg19	CCDS41417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.43|13.43	2.235311|2.235311	0.39498|0.39498	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000368164;ENST00000368161;ENST00000368162|ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	.|T;T;T;T;T;T;T;T	.|0.14144	.|2.53;2.53;2.53;2.53;4.18;2.53;2.53;4.18	4.38|4.38	3.23|3.23	0.37069|0.37069	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|0.371926	.|0.19941	.|N	.|0.102654	.|T	.|0.15609	.|0.0376	M|M	0.72894|0.72894	2.215|2.215	0.25800|0.25800	N|N	0.984516|0.984516	.|D;P;D;P;P;P;P;D;P;D;P	.|0.58268	.|0.958;0.953;0.982;0.951;0.659;0.549;0.896;0.981;0.953;0.97;0.871	.|P;P;P;P;D;P;P;P;D;D;P	.|0.65987	.|0.895;0.872;0.863;0.863;0.94;0.868;0.774;0.864;0.926;0.931;0.826	.|T	.|0.06445	.|-1.0826	.|10	.|0.31617	.|T	.|0.26	.|-3.3614	7.8875|7.8875	0.29659|0.29659	0.0:0.0:0.21:0.79|0.0:0.0:0.21:0.79	.|.	.|79;169;266;268;169;178;79;268;268;79;178	.|B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.|.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	.|H	-1|266;169;268;79;178;79;268;178	.|ENSP00000401957:Y266H;ENSP00000402906:Y169H;ENSP00000357149:Y268H;ENSP00000416228:Y79H;ENSP00000357147:Y178H;ENSP00000357148:Y79H;ENSP00000357142:Y268H;ENSP00000357138:Y178H	.|ENSP00000357138:Y178H	.|Y	+|+	.|1	.|0	CD1E|CD1E	156592417|156592417	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.697000|0.697000	0.40408|0.40408	2.127000|2.127000	0.42035|0.42035	0.706000|0.706000	0.31912|0.31912	0.460000|0.460000	0.39030|0.39030	.|TAT		TCGA-IB-7651-01A-11D-2154-08	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	1	0	0	41	611	0	107	0	0	0	1	0	107	2		0	0	0	0	0	2	1	1	40	594	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.800000	0.580000	1.000000	1.000000	0.811098	0.800000	0	6.800000e-01	9.300000e-01
OR10T2	128360	broad.mit.edu	37	1	158368954	158368954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158368954C>T	ENST00000334438.1	-	1	302	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2			34	all_hematologic(112;0.0378)				AAAAGAACAGCTGGGTGGCAC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000334438.1	1	1	hg19	CCDS30895.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	1	0	0	25	298	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	9.999998e-01	25	292	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.660000	1.000000	1.000000	0.929925	0.990000	1	8.100000e-01	1
OR10R2	343406	broad.mit.edu	37	1	158450047	158450047	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450047T>C	ENST00000368152.1	+	1	380	c.380T>C	c.(379-381)tTt>tCt	p.F127S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2			41	all_hematologic(112;0.0378)				TTCCTTGGTTTTGCCATTACC	0.463000																								0							SO:0001583	missense			ENST00000368152.1	1	1	hg19	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	16.88	3.243493	0.58995	.	.	ENSG00000198965	ENST00000368152	T	0.01287	5.05	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03136	0.0092	M	0.65677	2.01	0.24736	N	0.993066	D	0.76494	0.999	D	0.68943	0.961	T	0.27468	-1.0073	9	0.72032	D	0.01	.	12.8873	0.58051	0.0:0.0:0.0:1.0	.	127	Q8NGX6	O10R2_HUMAN	S	127	ENSP00000357134:F127S	ENSP00000357134:F127S	F	+	2	0	OR10R2	156716671	0.003000	0.15002	0.999000	0.59377	0.937000	0.57800	0.917000	0.28665	1.847000	0.53656	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	1	0	0	385	1151	0	240		0	0	0	0	240	2		0	0	0	0	0	2	1	1	380	1124	0	235	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6Y1	391112	broad.mit.edu	37	1	158517417	158517417	+	Missense_Mutation	SNP	G	G	A	rs148583112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517417G>A	ENST00000302617.3	-	1	478	c.479C>T	c.(478-480)aCt>aTt	p.T160I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1			30	all_hematologic(112;0.0378)				AATCATGGCAGTCATGAGTCC	0.468000																								0							SO:0001583	missense			ENST00000302617.3	1	1	hg19	CCDS30899.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.94	1.787184	0.31593	0.0	4.65E-4	ENSG00000197532	ENST00000302617	T	0.34667	1.35	5.34	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000574	T	0.13200	0.0320	N	0.02296	-0.605	0.22684	N	0.998854	D	0.71674	0.998	D	0.66847	0.947	T	0.07309	-1.0779	10	0.26408	T	0.33	.	7.1526	0.25618	0.1503:0.1458:0.7039:0.0	.	160	Q8NGX8	OR6Y1_HUMAN	I	160	ENSP00000304807:T160I	ENSP00000304807:T160I	T	-	2	0	OR6Y1	156784041	0.000000	0.05858	0.554000	0.28268	0.998000	0.95712	-0.056000	0.11787	1.466000	0.48025	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	1	0	1	31	177	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	30	173	0	42	2								-4.787092	1	1	121378	41	46	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
OR6Y1	391112	broad.mit.edu	37	1	158517519	158517519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517519T>C	ENST00000302617.3	-	1	376	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1			30	all_hematologic(112;0.0378)				TACATAGCGGTCAAAGGCCAT	0.468000																								0							SO:0001583	missense			ENST00000302617.3	1	1	hg19	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813517	0.70912	.	.	ENSG00000197532	ENST00000302617	T	0.18174	2.23	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000551	T	0.51109	0.1655	H	0.97962	4.115	0.50171	D	0.999855	D	0.89917	1.0	D	0.87578	0.998	T	0.70502	-0.4854	10	0.87932	D	0	.	13.9452	0.64080	0.0:0.0:0.0:1.0	.	126	Q8NGX8	OR6Y1_HUMAN	G	126	ENSP00000304807:D126G	ENSP00000304807:D126G	D	-	2	0	OR6Y1	156784143	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.709000	0.84645	2.176000	0.68965	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	1	0	1	99	297	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	99	290	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6Y1	391112	broad.mit.edu	37	1	158517703	158517703	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517703A>G	ENST00000302617.3	-	1	192	c.193T>C	c.(193-195)Tac>Cac	p.Y65H		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1			30	all_hematologic(112;0.0378)				AAGAAGAAGTACATGGGCTTA	0.463000																								0							SO:0001583	missense			ENST00000302617.3	1	1	hg19	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165016	0.78339	.	.	ENSG00000197532	ENST00000302617	T	0.15487	2.42	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001739	T	0.47544	0.1451	H	0.96633	3.855	0.45777	D	0.998663	D	0.89917	1.0	D	0.68943	0.961	T	0.66268	-0.5966	10	0.87932	D	0	.	13.9452	0.64080	1.0:0.0:0.0:0.0	.	65	Q8NGX8	OR6Y1_HUMAN	H	65	ENSP00000304807:Y65H	ENSP00000304807:Y65H	Y	-	1	0	OR6Y1	156784327	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.948000	0.93006	2.176000	0.68965	0.460000	0.39030	TAC		TCGA-IB-7651-01A-11D-2154-08	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	1	0	1	62	211	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	60	207	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10X1	128367	broad.mit.edu	37	1	158548724	158548724	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548724A>G	ENST00000368150.1	-	1	965	c.966T>C	c.(964-966)gtT>gtC	p.V322V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)			37	all_hematologic(112;0.0378)				TTTTCAAGGCAACTGTGTTTC	0.428000																								0							SO:0001819	synonymous_variant			ENST00000368150.1	1	1	hg19	CCDS30900.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	1	0	1	196	969	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	1	193	952	0	167	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10X1	128367	broad.mit.edu	37	1	158548816	158548816	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548816T>C	ENST00000368150.1	-	1	873	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)			37	all_hematologic(112;0.0378)				GTAATGACAGTATAAGGGACT	0.433000																								0							SO:0001583	missense			ENST00000368150.1	1	1	hg19	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419284	0.62622	.	.	ENSG00000186400	ENST00000368150	T	0.00235	8.48	4.5	4.5	0.54988	.	0.000000	0.50627	D	0.000119	T	0.00241	0.0007	M	0.66297	2.02	0.27388	N	0.955216	D	0.76494	0.999	D	0.87578	0.998	T	0.50363	-0.8837	10	0.48119	T	0.1	.	13.2141	0.59849	0.0:0.0:0.0:1.0	.	292	Q8NGY0	O10X1_HUMAN	A	292	ENSP00000357132:T292A	ENSP00000357132:T292A	T	-	1	0	OR10X1	156815440	0.999000	0.42202	0.879000	0.34478	0.978000	0.69477	1.571000	0.36450	2.001000	0.58596	0.460000	0.39030	ACT		TCGA-IB-7651-01A-11D-2154-08	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	0	0	0	28	788	1	99		0	0	0	1	99	2		0	0	0	0	0	2	1	6.760526e-01	27	768	1	99	25								-19.999910	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.440000	0.290000	0.610000	0.430000	0.450735	0.440000	0	3.600000e-01	5.300000e-01
OR10Z1	128368	broad.mit.edu	37	1	158576821	158576821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158576821G>T	ENST00000361284.1	+	1	593	c.593G>T	c.(592-594)aGg>aTg	p.R198M		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1			37	all_hematologic(112;0.0378)				AGTGAGCTGAGGATCTTTATC	0.512000																								0							SO:0001583	missense			ENST00000361284.1	0	1	hg19	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	1.832	-0.469578	0.04445	.	.	ENSG00000198967	ENST00000361284	T	0.36520	1.25	5.26	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.379178	0.19324	N	0.117043	T	0.02848	0.0085	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	10	0.48119	T	0.1	.	1.9586	0.03381	0.1515:0.1226:0.3631:0.3629	.	198	Q8NGY1	O10Z1_HUMAN	M	198	ENSP00000354707:R198M	ENSP00000354707:R198M	R	+	2	0	OR10Z1	156843445	0.000000	0.05858	0.117000	0.21633	0.026000	0.11368	0.108000	0.15396	0.339000	0.23719	-0.119000	0.15052	AGG		TCGA-IB-7651-01A-11D-2154-08	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	0	0	0	14	721	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	9.997211e-01	15	707	0	126	2								-2.333786	0	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.240000	0.130000	0.390000	0.240000	0.258644	0.240000	0	1.800000e-01	3.200000e-01
SPTA1	6708	broad.mit.edu	37	1	158612750	158612750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158612750C>T	ENST00000368147.4	-	32	4639	c.4459G>A	c.(4459-4461)Gca>Aca	p.A1487T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				ATCAGTTGTGCTTTGAGAGCC	0.488000																								0							SO:0001583	missense			ENST00000368147.4	0	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117860	0.20877	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.2	1.14	0.20703	.	2.573990	0.02328	N	0.073630	T	0.17831	0.0428	L	0.41573	1.285	0.22317	N	0.999201	B	0.06786	0.001	B	0.09377	0.004	T	0.06954	-1.0798	10	0.29301	T	0.29	.	6.6757	0.23093	0.0:0.6484:0.1288:0.2228	.	1487	P02549	SPTA1_HUMAN	T	1487	ENSP00000357130:A1487T;ENSP00000357129:A1487T	ENSP00000357129:A1487T	A	-	1	0	SPTA1	156879374	0.961000	0.32948	0.035000	0.18076	0.702000	0.40608	1.766000	0.38491	0.057000	0.16193	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	0	10	259	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.966719e-01	10	253	0	40	2								-4.037314	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.490000	0.250000	0.820000	0.480000	0.511604	0.490000	0	3.500000e-01	6.500000e-01
SPTA1	6708	broad.mit.edu	37	1	158617374	158617374	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158617374C>T	ENST00000368147.4	-	27	4031	c.3851G>A	c.(3850-3852)aGc>aAc	p.S1284N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				CTCATTTAGGCTCTCCTTACG	0.547000																								0							SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691624	0.15039	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	4.43	-0.0524	0.13822	.	.	.	.	.	T	0.10594	0.0259	N	0.20766	0.605	0.26862	N	0.967922	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	9	0.17832	T	0.49	.	7.9629	0.30081	0.0:0.3016:0.0:0.6984	.	1284	P02549	SPTA1_HUMAN	N	1284	ENSP00000357130:S1284N;ENSP00000357129:S1284N	ENSP00000357129:S1284N	S	-	2	0	SPTA1	156883998	1.000000	0.71417	0.059000	0.19551	0.247000	0.25773	1.080000	0.30779	-0.089000	0.12484	-0.244000	0.11960	AGC		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	80	564	0	124	0	0	0	1	0	124	2		0	0	0	0	0	2	1	1	79	552	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158626413	158626413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158626413C>T	ENST00000368147.4	-	20	3019	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				GAATTGAGATCTAATAGAAAG	0.403000																								0							SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274421	0.95459	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.69561	-0.41;-0.41	5.5	5.5	0.81552	.	0.000000	0.33110	N	0.005265	T	0.82259	0.4998	M	0.86573	2.825	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.82649	-0.0353	10	0.51188	T	0.08	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	947	P02549	SPTA1_HUMAN	N	947	ENSP00000357130:D947N;ENSP00000357129:D947N	ENSP00000357129:D947N	D	-	1	0	SPTA1	156893037	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	6.502000	0.73695	2.861000	0.98227	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	139	510	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	136	501	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	p.R891*(1)		307	all_hematologic(112;0.0378)				TCATTTTGTCGCCTAGCAGCT	0.463000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000368147.4	0	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	0	251	636	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	1	248	626	0	163	2								-20.000000	1	1	120922	1	41	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158631185	158631185	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631185C>T	ENST00000368147.4	-	18	2659	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				TTTTTGGAAGCAATCAGGTCC	0.428000																								0							SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198257	0.38806	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	4.93	-0.371	0.12525	.	.	.	.	.	T	0.09335	0.0230	N	0.12746	0.255	0.31268	N	0.69208	B	0.06786	0.001	B	0.17979	0.02	T	0.27773	-1.0064	9	0.23302	T	0.38	.	5.7759	0.18279	0.3872:0.4682:0.0:0.1446	.	827	P02549	SPTA1_HUMAN	T	827	ENSP00000357130:A827T;ENSP00000357129:A827T	ENSP00000357129:A827T	A	-	1	0	SPTA1	156897809	0.922000	0.31269	0.083000	0.20561	0.801000	0.45260	0.655000	0.24933	-0.227000	0.09884	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	67	385	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	67	378	0	90	2								-20.000000	1	1	120824	2	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158631186	158631186	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631186A>G	ENST00000368147.4	-	18	2658	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				TTTTGGAAGCAATCAGGTCCT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000368147.4	1	1	hg19	CCDS41423.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	64	384	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	64	377	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158636273	158636273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158636273C>A	ENST00000368147.4	-	16	2233	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				TGGTTGGCCTCATGCAACTGG	0.448000																								0							SO:0001587	stop_gained			ENST00000368147.4	0	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869622	0.97049	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.71	2.85	0.33270	.	0.251914	0.20648	N	0.088271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.753	0.40487	0.0:0.8306:0.0:0.1694	.	.	.	.	X	685	.	ENSP00000357129:E685X	E	-	1	0	SPTA1	156902897	1.000000	0.71417	0.110000	0.21437	0.005000	0.04900	4.944000	0.63561	0.601000	0.29879	-0.142000	0.14014	GAG		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	29	156	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1	30	152	0	28	2								-3.353125	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158639514	158639514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158639514C>A	ENST00000368147.4	-	13	1842	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				CACGGATAGCCTTGATGTTCT	0.428000																								0							SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	6.407	0.443166	0.12164	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	4.72	2.36	0.29203	.	0.663319	0.11715	N	0.536488	T	0.16257	0.0391	N	0.16368	0.405	0.19575	N	0.999963	B	0.19706	0.038	B	0.30495	0.116	T	0.37820	-0.9689	10	0.42905	T	0.14	.	10.4003	0.44225	0.685:0.3149:0.0:0.0	.	554	P02549	SPTA1_HUMAN	N	554	ENSP00000357130:K554N;ENSP00000357129:K554N	ENSP00000357129:K554N	K	-	3	2	SPTA1	156906138	0.956000	0.32656	0.216000	0.23742	0.008000	0.06430	1.365000	0.34182	0.389000	0.25086	-1.224000	0.01588	AAG		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	316	925	0	235		0	0	0	0	235	2		0	0	0	0	0	2	1	1	311	909	0	231	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158641181	158641181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158641181C>T	ENST00000368147.4	-	12	1731	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				AGTCTTCATGCTTCTGAAGAA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000368147.4	1	1	hg19	CCDS41423.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	0	64	177	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	63	174	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158650471	158650471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158650471C>T	ENST00000368147.4	-	5	760	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				TGCAGAACTTCGGTGCGCTCC	0.463000																								0							SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675462	0.88445	2.65E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	5.07	5.07	0.68467	.	0.000000	0.32459	N	0.006061	T	0.67154	0.2863	M	0.87038	2.855	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.69720	-0.5069	10	0.45353	T	0.12	.	17.2088	0.86925	0.0:1.0:0.0:0.0	.	194	P02549	SPTA1_HUMAN	K	194	ENSP00000357130:E194K;ENSP00000357129:E194K	ENSP00000357129:E194K	E	-	1	0	SPTA1	156917095	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.350000	0.66016	2.627000	0.88993	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	137	383	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	131	380	0	87	2								-6.701316	1	1	120840	6	42	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTA1	6708	broad.mit.edu	37	1	158653211	158653211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158653211T>C	ENST00000368147.4	-	3	520	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	p.T114A(1)		307	all_hematologic(112;0.0378)				TCTTCCCTTGTTTTTTCCAGT	0.378000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560385	0.27827	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	6.17	3.8	0.43715	.	0.857574	0.09455	N	0.799845	T	0.20780	0.0500	L	0.33189	0.99	0.33042	D	0.531638	B	0.16396	0.017	B	0.34452	0.183	T	0.19943	-1.0290	10	0.09084	T	0.74	.	12.4308	0.55573	0.0:0.0:0.265:0.735	.	114	P02549	SPTA1_HUMAN	A	114	ENSP00000357130:T114A;ENSP00000357129:T114A	ENSP00000357129:T114A	T	-	1	0	SPTA1	156919835	1.000000	0.71417	0.010000	0.14722	0.003000	0.03518	4.297000	0.59061	0.518000	0.28383	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	0	29	379	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	28	373	0	104	2								-7.642538	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.910000	0.620000	1.000000	1.000000	0.890508	0.910000	1	7.500000e-01	1
OR6K2	81448	broad.mit.edu	37	1	158669633	158669633	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669633G>T	ENST00000359610.2	-	1	853	c.810C>A	c.(808-810)ttC>ttA	p.F270L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2			46	all_hematologic(112;0.0378)				CTATATCCCAGAACAAAGAGT	0.423000																								0							SO:0001583	missense			ENST00000359610.2	1	1	hg19	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854524	0.17106	.	.	ENSG00000196171	ENST00000359610	T	0.00058	8.79	4.94	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000525	T	0.00039	0.0001	N	0.04820	-0.15	0.24203	N	0.995501	B	0.11235	0.004	B	0.20384	0.029	T	0.41360	-0.9513	10	0.28530	T	0.3	-14.1783	3.9631	0.09420	0.0876:0.1584:0.5905:0.1635	.	270	Q8NGY2	OR6K2_HUMAN	L	270	ENSP00000352626:F270L	ENSP00000352626:F270L	F	-	3	2	OR6K2	156936257	0.167000	0.22975	0.999000	0.59377	0.980000	0.70556	0.303000	0.19210	1.287000	0.44583	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	1	0	1	63	184	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	61	181	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6K2	81448	broad.mit.edu	37	1	158669909	158669909	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669909A>G	ENST00000359610.2	-	1	577	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2			46	all_hematologic(112;0.0378)				GGAGGAAGTCACAGAAGATAT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000359610.2	1	1	hg19	CCDS30902.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	1	0	0	117	339	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	114	335	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6K6	128371	broad.mit.edu	37	1	158725615	158725615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158725615G>T	ENST00000368144.2	+	1	1106	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6			29	all_hematologic(112;0.0378)				TATCAGAAGAGGGCTGGTTGG	0.408000																								0							SO:0001583	missense			ENST00000368144.2	1	1	hg19	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233255	0.22626	.	.	ENSG00000180433	ENST00000368144	T	0.38401	1.14	5.26	1.03	0.20045	.	1.356070	0.05214	N	0.507211	T	0.06554	0.0168	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.29336	-1.0015	10	0.33940	T	0.23	-0.0036	2.9484	0.05853	0.1606:0.4079:0.2922:0.1393	.	337	Q8NGW6	OR6K6_HUMAN	M	337	ENSP00000357126:R337M	ENSP00000357126:R337M	R	+	2	0	OR6K6	156992239	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.014000	0.13333	0.031000	0.15407	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	1	0	1	118	327	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	118	322	0	86	2								-6.244691	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6N1	128372	broad.mit.edu	37	1	158735907	158735907	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158735907C>T	ENST00000335094.2	-	1	585	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1			54	all_hematologic(112;0.0378)				CGTATCAGTGCAAGCCAAACT	0.458000																								0							SO:0001583	missense			ENST00000335094.2	1	1	hg19	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558087	0.65538	.	.	ENSG00000197403	ENST00000335094	T	0.00462	7.26	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000116	T	0.01421	0.0046	M	0.93678	3.445	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.44847	-0.9301	10	0.87932	D	0	-13.5291	16.7399	0.85456	0.0:1.0:0.0:0.0	.	189	Q8NGY5	OR6N1_HUMAN	Y	189	ENSP00000335535:C189Y	ENSP00000335535:C189Y	C	-	2	0	OR6N1	157002531	0.955000	0.32602	1.000000	0.80357	0.966000	0.64601	2.281000	0.43452	2.454000	0.82982	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	0	0	1	120	536	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	1	120	528	0	149	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MNDA	4332	broad.mit.edu	37	1	158813851	158813851	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158813851T>G	ENST00000368141.4	+	4	770	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen			65	all_hematologic(112;0.0378)				TCTGCAGCTGTGGATCATCCC	0.483000																								0							SO:0001583	missense			ENST00000368141.4	1	1	hg19	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	0.029	-1.344458	0.01277	.	.	ENSG00000163563	ENST00000368141	T	0.05081	3.5	2.94	-5.88	0.02290	.	.	.	.	.	T	0.00784	0.0026	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	9	0.23891	T	0.37	-0.2149	6.7544	0.23505	0.2972:0.1296:0.0:0.5732	.	170	P41218	MNDA_HUMAN	G	170	ENSP00000357123:V170G	ENSP00000357123:V170G	V	+	2	0	MNDA	157080475	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.082000	0.00045	-4.526000	0.00044	-2.020000	0.00432	GTG		TCGA-IB-7651-01A-11D-2154-08	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	1	0	1	203	799	0	205	0	1	0	127	0	205	2		0	0	0	0	0	2	1	1	198	767	0	204	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYHIN1	149628	broad.mit.edu	37	1	158911953	158911953	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158911953A>G	ENST00000368140.1	+	5	1011	c.766A>G	c.(766-768)Aac>Gac	p.N256D	PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1			60	all_hematologic(112;0.0378)				GAAGGTTTTAAACATCAACTT	0.328000																								0							SO:0001583	missense			ENST00000368140.1	1	1	hg19	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	6.016	0.371365	0.11409	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	2.85	-1.2	0.09554	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03871	0.0109	L	0.41961	1.31	0.09310	N	0.999999	P;P;P;B	0.43477	0.808;0.697;0.808;0.444	B;P;B;B	0.46026	0.357;0.501;0.357;0.373	T	0.29336	-1.0015	9	0.19590	T	0.45	.	3.011	0.06044	0.4912:0.233:0.2758:0.0	.	247;256;247;256	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	D	256;247;256;247	ENSP00000357122:N256D;ENSP00000357120:N247D;ENSP00000376083:N256D;ENSP00000376082:N247D	ENSP00000357120:N247D	N	+	1	0	PYHIN1	157178577	0.002000	0.14202	0.003000	0.11579	0.076000	0.17211	0.161000	0.16481	-0.411000	0.07530	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	1	0	1	87	266	0	48	0	8.913580e-01	0	14	0	48	2		0	0	0	0	0	2	1	1	85	260	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PYHIN1	149628	broad.mit.edu	37	1	158913768	158913768	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158913768G>T	ENST00000368140.1	+	6	1436	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	PYHIN1_ENST00000392254.2_Splice_Site_p.Q397H|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Splice_Site_p.Q388H|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1			60	all_hematologic(112;0.0378)				GTTTCATCCAGGTGAGAAATA	0.338000																								0							SO:0001630	splice_region_variant			ENST00000368140.1	1	0	hg19	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369596	0.42003	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.04	3.04	0.35103	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.31918	0.0812	L	0.61218	1.895	0.40710	D	0.982568	D;D;D;D	0.65815	0.995;0.991;0.995;0.992	D;P;P;P	0.64506	0.926;0.892;0.859;0.782	T	0.12243	-1.0555	9	0.87932	D	0	.	9.6522	0.39904	0.0:0.0:1.0:0.0	.	388;397;388;397	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	H	397;388;397;388	ENSP00000357122:Q397H;ENSP00000357120:Q388H;ENSP00000376083:Q397H;ENSP00000376082:Q388H	ENSP00000357120:Q388H	Q	+	3	2	PYHIN1	157180392	1.000000	0.71417	0.097000	0.21041	0.107000	0.19398	3.661000	0.54503	1.675000	0.50919	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	1	0	1	82	208	0	49	0	9.156608e-01	0	13	0	49	2		0	0	0	0	0	2	1	1	82	207	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJC16	23341	broad.mit.edu	37	1	15893740	15893740	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15893740C>A	ENST00000375847.3	+	14	2089	c.1925C>A	c.(1924-1926)gCt>gAt	p.A642D	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.A642D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16			18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)			CAGAAATTTGCTTTGGAGGTC	0.463000																								0							SO:0001583	missense			ENST00000375847.3	1	1	hg19	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853325	0.91355	.	.	ENSG00000116138	ENST00000375847;ENST00000375849	T;T	0.73258	-0.71;-0.73	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.70275	2.135	0.43214	D	0.995088	D	0.89917	1.0	D	0.85130	0.997	D	0.84076	0.0382	10	0.54805	T	0.06	-15.9176	18.3197	0.90234	0.0:1.0:0.0:0.0	.	642	Q9Y2G8	DJC16_HUMAN	D	642	ENSP00000365007:A642D;ENSP00000365009:A642D	ENSP00000365007:A642D	A	+	2	0	DNAJC16	15766327	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.996000	0.76263	2.671000	0.90904	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	0	0	0	12	371	0	73	1	3.874251e-01	2	38	0	73	2		0	0	0	0	0	2	1	9.989673e-01	12	359	0	73	2								-3.135138	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.330000	0.180000	0.540000	0.330000	0.351678	0.330000	0	2.500000e-01	4.400000e-01
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158988314C>T	ENST00000295809.7	+	5	1100	c.845C>T	c.(844-846)gCt>gTt	p.A282V	IFI16_ENST00000430894.2_Missense_Mutation_p.A230V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000368132.3_Missense_Mutation_p.A282V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16			29	all_hematologic(112;0.0429)				GTATCTGAAGCTGGTCCTAAC	0.338000																								0							SO:0001583	missense			ENST00000295809.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	8.937	0.964958	0.18583	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	2.9	-0.208	0.13185	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.25094	0.71	0.09310	N	1	P;P;P	0.46859	0.726;0.477;0.885	B;B;B	0.32980	0.156;0.038;0.156	T	0.32214	-0.9915	8	.	.	.	.	5.1772	0.15141	0.0:0.5616:0.0:0.4384	.	230;282;282	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	V	282;282;282;282;230	ENSP00000295809:A282V;ENSP00000342741:A282V;ENSP00000357113:A282V;ENSP00000357114:A282V;ENSP00000394935:A230V	.	A	+	2	0	IFI16	157254938	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.061000	0.03472	0.086000	0.17137	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	1	0	1	80	223	0	76	1	1	104	426	0	76	2		0	0	0	0	0	2	1	1	79	217	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CADM3	57863	broad.mit.edu	37	1	159163241	159163241	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163241T>G	ENST00000368125.4	+	4	568	c.411T>G	c.(409-411)ggT>ggG	p.G137G	CADM3_ENST00000368124.4_Silent_p.G171G|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3			55	all_hematologic(112;0.0429)				TCATCACTGGTTATAAATCTT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000368125.4	1	1	hg19	CCDS44251.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	1	0	0	45	444	0	92	0	2.510639e-02	0	3	0	92	2		0	0	0	0	0	2	1	1	44	436	0	92	2								-13.791770	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.990849	0.990000	1	9.900000e-01	1
CADM3	57863	broad.mit.edu	37	1	159163289	159163289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163289G>A	ENST00000368125.4	+	4	616	c.459G>A	c.(457-459)caG>caA	p.Q153Q	CADM3_ENST00000368124.4_Silent_p.Q187Q|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3			55	all_hematologic(112;0.0429)				TAAACTGTCAGTCTTCTGGGA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000368125.4	1	1	hg19	CCDS44251.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	1	0	0	106	297	0	66	0	1.724348e-01	0	3	0	66	2		0	0	0	0	0	2	1	1	106	290	0	66	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CADM3	57863	broad.mit.edu	37	1	159170620	159170620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159170620G>T	ENST00000368125.4	+	9	1262	c.1105G>T	c.(1105-1107)Ggc>Tgc	p.G369C	CADM3_ENST00000368124.4_Missense_Mutation_p.G403C|CADM3_ENST00000497636.1_3'UTR|DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3			55	all_hematologic(112;0.0429)				TGAGGCAAAAGGCTCCGACGA	0.562000																								0							SO:0001583	missense			ENST00000368125.4	1	1	hg19	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607985	0.66558	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.65549	-0.16;-0.02	3.81	3.81	0.43845	Neurexin/syndecan/glycophorin C (1);	0.000000	0.64402	D	0.000001	T	0.78811	0.4342	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84007	0.0346	10	0.87932	D	0	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	369;403	Q8N126;Q8N126-2	CADM3_HUMAN;.	C	403;369	ENSP00000357106:G403C;ENSP00000357107:G369C	ENSP00000357106:G403C	G	+	1	0	CADM3	157437244	1.000000	0.71417	0.992000	0.48379	0.656000	0.38851	8.966000	0.93397	1.965000	0.57142	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	1	0	1	101	409	0	69	0	1.034382e-01	0	3	0	69	2		0	0	0	0	0	2	1	1	100	395	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCER1A	2205	broad.mit.edu	37	1	159273844	159273844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159273844G>A	ENST00000368115.1	+	4	302	c.203G>A	c.(202-204)gGc>gAc	p.G68D	FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide			33	all_hematologic(112;0.0429)			Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTCCACAATGGCAGCCTTTCA	0.368000																								0							SO:0001583	missense			ENST00000368115.1	1	1	hg19	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328005	0.24080	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12255	2.7;2.7	4.7	-5.08	0.02929	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.517714	0.17599	N	0.168482	T	0.03827	0.0108	L	0.49513	1.565	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.38178	-0.9673	10	0.36615	T	0.2	.	11.939	0.52890	0.5089:0.0:0.4911:0.0	.	68	P12319	FCERA_HUMAN	D	68;35	ENSP00000357097:G68D;ENSP00000357096:G35D	ENSP00000357096:G35D	G	+	2	0	FCER1A	157540468	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.513000	0.06305	-0.927000	0.03766	-0.219000	0.12488	GGC		TCGA-IB-7651-01A-11D-2154-08	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	1	0	1	77	375	0	84	0	1.398964e-01	0	4	0	84	2		0	0	0	0	0	2	1	1	77	366	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCER1A	2205	broad.mit.edu	37	1	159277659	159277659	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159277659G>A	ENST00000368115.1	+	6	810	c.711G>A	c.(709-711)aaG>aaA	p.K237K	FCER1A_ENST00000368114.1_Silent_p.K204K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide			33	all_hematologic(112;0.0429)			Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGAAGATTAAGAGAACCAGGA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000368115.1	1	1	hg19	CCDS1184.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	1	0	1	70	296	0	48	0	1.709000e-01	0	4	0	48	2		0	0	0	0	0	2	1	1	69	294	0	48	2								-3.510423	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10J3	441911	broad.mit.edu	37	1	159283537	159283537	+	Missense_Mutation	SNP	G	G	A	rs144550384	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283537G>A	ENST00000332217.5	-	1	912	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3			47	all_hematologic(112;0.0429)				TTTGCCCCACGGCTCTGTGCA	0.428000																								0							SO:0001583	missense			ENST00000332217.5	1	1	hg19	CCDS30909.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.72	1.429576	0.25726	2.27E-4	0.0	ENSG00000196266	ENST00000332217	T	0.00538	6.71	5.21	-4.52	0.03472	.	2.411510	0.03146	U	0.167340	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44421	-0.9329	10	0.87932	D	0	.	12.9063	0.58154	0.7819:0.0:0.2181:0.0	.	305	Q5JRS4	O10J3_HUMAN	C	305	ENSP00000331789:R305C	ENSP00000331789:R305C	R	-	1	0	OR10J3	157550161	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.088000	0.01359	-0.865000	0.04073	-0.137000	0.14449	CGT		TCGA-IB-7651-01A-11D-2154-08	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1	1	0	1	110	447	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	110	437	0	99	2								-3.487738	1	1	121410	11	46	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10J3	441911	broad.mit.edu	37	1	159283813	159283813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283813C>T	ENST00000332217.5	-	1	636	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3			47	all_hematologic(112;0.0429)				AAGACCAGGCCCATAGGTAGA	0.502000																								0							SO:0001583	missense			ENST00000332217.5	1	1	hg19	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	0.800	-0.755732	0.03019	.	.	ENSG00000196266	ENST00000332217	T	0.36157	1.27	5.2	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.833010	0.09760	N	0.759438	T	0.05502	0.0145	N	0.10618	0.005	0.09310	N	0.999999	B	0.16603	0.018	B	0.21360	0.034	T	0.41893	-0.9483	10	0.27785	T	0.31	.	4.3199	0.11011	0.2964:0.5294:0.0:0.1742	.	213	Q5JRS4	O10J3_HUMAN	S	213	ENSP00000331789:G213S	ENSP00000331789:G213S	G	-	1	0	OR10J3	157550437	0.000000	0.05858	0.043000	0.18650	0.020000	0.10135	-0.119000	0.10676	0.029000	0.15352	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1	1	0	1	75	481	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	68	473	0	122	2								-2.879476	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10J1	26476	broad.mit.edu	37	1	159410122	159410122	+	Missense_Mutation	SNP	C	C	T	rs143481177		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159410122C>T	ENST00000423932.3	+	1	611	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1			25	all_hematologic(112;0.0429)				CTGTGACATCCGCCCTGTGAT	0.478000																								0							SO:0001583	missense			ENST00000423932.3	1	1	hg19	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251879	0.22880	0.0	4.65E-4	ENSG00000196184	ENST00000423932	T	0.00145	8.67	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.197989	0.25222	N	0.032234	T	0.00073	0.0002	L	0.40543	1.245	0.09310	N	0.999991	D	0.76494	0.999	D	0.65140	0.932	T	0.13791	-1.0496	10	0.62326	D	0.03	.	3.8628	0.09004	0.1888:0.6068:0.0:0.2043	.	192	P30954	O10J1_HUMAN	C	192	ENSP00000399078:R192C	ENSP00000399078:R192C	R	+	1	0	OR10J1	157676746	0.000000	0.05858	0.657000	0.29651	0.554000	0.35429	-0.571000	0.05889	0.503000	0.28060	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	1	0	1	146	724	0	191		0	0	0	0	191	2		0	0	0	0	0	2	1	1	145	711	0	188	2								-2.720427	1	1	121412	5	43	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10J5	127385	broad.mit.edu	37	1	159505736	159505736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159505736C>T	ENST00000334857.2	-	1	106	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5			22	all_hematologic(112;0.0429)				CTGATGCTTTCCAAAGCTAGA	0.368000																								0							SO:0001583	missense			ENST00000334857.2	1	1	hg19	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628761	0.03610	.	.	ENSG00000184155	ENST00000334857	T	0.03004	4.08	4.29	2.4	0.29515	.	.	.	.	.	T	0.00666	0.0022	N	0.21448	0.665	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.47289	-0.9129	9	0.09338	T	0.73	.	3.2892	0.06943	0.2082:0.5749:0.0:0.2169	.	21	Q8NHC4	O10J5_HUMAN	E	21	ENSP00000334441:G21E	ENSP00000334441:G21E	G	-	2	0	OR10J5	157772360	0.000000	0.05858	0.545000	0.28153	0.476000	0.33039	-0.100000	0.10990	1.146000	0.42352	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	1	0	1	89	490	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	87	476	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APCS	325	broad.mit.edu	37	1	159558114	159558114	+	Silent	SNP	A	A	G	rs11545900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159558114A>G	ENST00000255040.2	+	2	385	c.288A>G	c.(286-288)agA>agG	p.R96R		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum			20	all_hematologic(112;0.0429)				ACATTGGAAGACACAAAGTTA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000255040.2	1	1	hg19	CCDS1186.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	1	0	0	40	486	0	77	0	9.991712e-01	1	129	0	77	2		0	0	0	0	0	2	1	1	40	481	0	77	2								-10.319490	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.970000	0.700000	1.000000	1.000000	0.933012	0.970000	1	8.300000e-01	1
RSC1A1	6248	broad.mit.edu	37	1	15986601	15986601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15986601C>T	ENST00000345034.1	+	1	238	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1			11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)			TCTTTCTGATCATGCTTCCTC	0.423000																								0							SO:0001583	missense			ENST00000345034.1	1	1	hg19	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.386950	0.00202	.	.	ENSG00000215695	ENST00000345034	T	0.42513	0.97	5.61	-4.42	0.03579	.	0.853756	0.09821	N	0.751463	T	0.11922	0.0290	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.30060	-0.9991	10	0.02654	T	1	4.7004	2.8138	0.05450	0.1828:0.4457:0.0908:0.2807	.	80	Q92681	RSCA1_HUMAN	Y	80	ENSP00000341963:H80Y	ENSP00000341963:H80Y	H	+	1	0	RSC1A1	15859188	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.782000	0.04643	-0.654000	0.05394	0.561000	0.74099	CAT		TCGA-IB-7651-01A-11D-2154-08	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	1	0	0	38	670	0	131	1	7.062136e-01	5	40	0	131	2		0	0	0	0	0	2	1	1	38	654	0	129	2								-6.466969	1	1	121412	3	35	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.560000	0.410000	0.750000	0.570000	0.579296	0.560000	0	4.800000e-01	6.700000e-01
IGSF9	57549	broad.mit.edu	37	1	159897170	159897170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897170G>A	ENST00000368094.1	-	21	3702	c.3505C>T	c.(3505-3507)Cca>Tca	p.P1169S	TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9			56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)		TGGGGGACTGGCTGTCGATAG	0.622000																								0							SO:0001583	missense			ENST00000368094.1	1	1	hg19	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	2.757	-0.258667	0.05791	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.63096	-0.02;0.07	4.89	1.85	0.25348	.	0.178280	0.27258	N	0.020195	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.23440	-1.0188	9	.	.	.	-1.1824	2.9334	0.05807	0.1012:0.1792:0.5347:0.1849	.	1169;707	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1153;1169;707	ENSP00000355049:P1153S;ENSP00000357073:P1169S	.	P	-	1	0	IGSF9	158163794	1.000000	0.71417	0.037000	0.18230	0.431000	0.31685	1.311000	0.33562	0.208000	0.20626	0.563000	0.77884	CCA		TCGA-IB-7651-01A-11D-2154-08	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	1	0	1	92	528	0	87	1	9.323600e-01	8	20	0	87	2		0	0	0	0	0	2	1	1	87	511	0	87	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF9	57549	broad.mit.edu	37	1	159897224	159897224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897224C>A	ENST00000368094.1	-	21	3648	c.3451G>T	c.(3451-3453)Gcc>Tcc	p.A1151S	TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9			56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)		CGGCGGAAGGCCAGGAATTCC	0.627000																								0							SO:0001583	missense			ENST00000368094.1	1	1	hg19	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771903	0.90108	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.67171	-0.25;-0.17	5.52	5.52	0.82312	.	0.000000	0.41500	D	0.000879	T	0.62368	0.2422	L	0.27053	0.805	0.33716	D	0.616383	D;D	0.58970	0.984;0.97	D;P	0.68192	0.956;0.681	T	0.63550	-0.6612	9	.	.	.	-17.8032	14.9501	0.71067	0.0:1.0:0.0:0.0	.	1151;689	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1135;1151;689	ENSP00000355049:A1135S;ENSP00000357073:A1151S	.	A	-	1	0	IGSF9	158163848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.635000	0.61332	2.608000	0.88229	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	1	0	1	76	524	0	95	1	8.067386e-01	4	19	0	95	2		0	0	0	0	0	2	1	1	73	512	0	95	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
IGSF9	57549	broad.mit.edu	37	1	159899737	159899737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159899737G>A	ENST00000368094.1	-	16	2290	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	IGSF9_ENST00000361509.3_Missense_Mutation_p.A682V|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9			56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)		GCCCGCGAAGGCCACGAGGCG	0.677000																								0							SO:0001583	missense			ENST00000368094.1	0	1	hg19	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962311	0.74016	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.76060	-0.99;-0.99	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39274	N	0.001415	T	0.81786	0.4896	M	0.70595	2.14	0.50467	D	0.999879	D	0.76494	0.999	D	0.76575	0.988	T	0.82112	-0.0618	9	.	.	.	-19.5679	15.7293	0.77790	0.0:0.0:1.0:0.0	.	698	Q9P2J2	TUTLA_HUMAN	V	682;698	ENSP00000355049:A682V;ENSP00000357073:A698V	.	A	-	2	0	IGSF9	158166361	1.000000	0.71417	0.986000	0.45419	0.280000	0.26924	8.747000	0.91610	2.296000	0.77279	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	1	0	1	11	58	0	12	1	1.398378e-01	3	1	0	12	2		0	0	0	0	0	2	1	9.986935e-01	11	57	0	12	2								-19.870760	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998744	0.990000	1	9.900000e-01	1
KCNJ10	3766	broad.mit.edu	37	1	160011435	160011435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160011435C>T	ENST00000368089.3	-	2	1114	c.888G>A	c.(886-888)gtG>gtA	p.V296V	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10			17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)	Yohimbine(DB01392)	AGGAAGTGCGCACCTGACAGG	0.537000													GBM(167;1368 2014 14817 36425 43215)											0							SO:0001819	synonymous_variant			ENST00000368089.3	1	1	hg19	CCDS1193.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	1	0	1	38	194	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	38	190	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF8	93185	broad.mit.edu	37	1	160065030	160065030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160065030C>T	ENST00000368086.1	-	2	287	c.71G>A	c.(70-72)gGa>gAa	p.G24E	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.G24E			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8			33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		GGCCCAGCATCCCATTCCTGT	0.597000																								0							SO:0001583	missense			ENST00000368086.1	0	1	hg19	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409436	0.25378	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.10005	3.54;3.54;2.92	4.64	0.423	0.16463	Immunoglobulin-like (1);	1.406170	0.04787	N	0.430823	T	0.01695	0.0054	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45323	-0.9269	10	0.20519	T	0.43	-2.0868	2.2414	0.04021	0.2633:0.451:0.1286:0.1571	.	24	Q969P0	IGSF8_HUMAN	E	24	ENSP00000316664:G24E;ENSP00000357065:G24E;ENSP00000397464:G24E	ENSP00000316664:G24E	G	-	2	0	IGSF8	158331654	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.555000	0.05999	-0.021000	0.14009	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	0	0	0	6	176	0	26	1	6.444437e-01	2	60	0	26	2		0	0	0	0	0	2	1	9.619959e-01	5	171	0	26	2								-8.352633	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.440000	0.180000	0.840000	0.420000	0.476230	0.440000	0	2.900000e-01	6.400000e-01
ATP1A2	477	broad.mit.edu	37	1	160094128	160094128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160094128G>A	ENST00000361216.3	+	6	627	c.538G>A	c.(538-540)Gca>Aca	p.A180T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide			69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		GCAGATCAACGCAGAGGAAGT	0.587000																								0							SO:0001583	missense			ENST00000361216.3	1	1	hg19	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117388	0.94385	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91894	-2.93;-2.93	5.11	5.11	0.69529	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.62016	1.91	0.80722	D	1	B;B	0.34372	0.451;0.346	B;B	0.36666	0.147;0.23	D	0.88958	0.3391	10	0.44086	T	0.13	.	17.3108	0.87210	0.0:0.0:1.0:0.0	.	25;180	B4DHD7;P50993	.;AT1A2_HUMAN	T	25;180;180	ENSP00000354490:A180T;ENSP00000376066:A180T	ENSP00000354490:A180T	A	+	1	0	ATP1A2	158360752	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	9.869000	0.99810	2.388000	0.81334	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	1	0	1	26	80	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	1	26	79	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP1A2	477	broad.mit.edu	37	1	160099109	160099109	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160099109C>A	ENST00000361216.3	+	11	1469	c.1380C>A	c.(1378-1380)ctC>ctA	p.L460L	ATP1A2_ENST00000392233.3_Silent_p.L460L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide			69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		GCATTGAGCTCTCCTGTGGCT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000361216.3	1	1	hg19	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025685	0.19512	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.66	0.412	0.16397	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29181	-1.0020	4	.	.	.	.	7.7827	0.29074	0.154:0.2517:0.5943:0.0	.	.	.	.	Y	171	.	.	S	+	2	0	ATP1A2	158365733	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	0.305000	0.19254	0.133000	0.18654	-0.234000	0.12200	TCT		TCGA-IB-7651-01A-11D-2154-08	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	1	0	1	191	869	0	195	0	0	0	1	0	195	2		0	0	0	0	0	2	1	1	185	852	0	194	2								-3.167119	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP1A2	477	broad.mit.edu	37	1	160109761	160109761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160109761G>A	ENST00000361216.3	+	22	3110	c.3021G>A	c.(3019-3021)cgG>cgA	p.R1007R	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.R996R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide			69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		TCATCCTGCGGCGGTATCCTG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000361216.3	1	1	hg19	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119542	0.20877	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.37	2.46	0.29980	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	4.6645	0.12659	0.1969:0.1822:0.6209:0.0	.	.	.	.	D	701	.	.	G	+	2	0	ATP1A2	158376385	0.028000	0.19301	0.998000	0.56505	0.942000	0.58702	-0.701000	0.05075	0.564000	0.29238	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	1	0	1	135	402	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	132	393	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP1A4	480	broad.mit.edu	37	1	160128806	160128806	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160128806T>C	ENST00000368081.4	+	5	1011	c.540T>C	c.(538-540)atT>atC	p.I180I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide			75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		CTCTGGTAATTCGAGGAGGAG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000368081.4	1	1	hg19	CCDS1197.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	1	0	0	42	210	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	39	203	0	53	2								-19.998920	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP1A4	480	broad.mit.edu	37	1	160141048	160141048	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160141048T>C	ENST00000368081.4	+	11	1970	c.1499T>C	c.(1498-1500)aTc>aCc	p.I500T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide			75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		TAGATGTCCATCCACCTTCGG	0.507000																								0							SO:0001583	missense			ENST00000368081.4	1	1	hg19	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330839	0.24167	.	.	ENSG00000132681	ENST00000368081	T	0.80738	-1.41	4.29	4.29	0.51040	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052036	0.64402	D	0.000001	D	0.83649	0.5300	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.85949	0.1463	10	0.87932	D	0	.	11.7097	0.51618	0.0:0.0:0.0:1.0	.	500	Q13733	AT1A4_HUMAN	T	500	ENSP00000357060:I500T	ENSP00000357060:I500T	I	+	2	0	ATP1A4	158407672	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.963000	0.70372	1.921000	0.55644	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	1	0	1	157	491	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1	152	476	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP1A4	480	broad.mit.edu	37	1	160156079	160156079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160156079C>T	ENST00000368081.4	+	21	3454	c.2983C>T	c.(2983-2985)Ctc>Ttc	p.L995F	ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide			75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		AACCTGGTGGCTCTGTGCCAT	0.547000																								0							SO:0001583	missense			ENST00000368081.4	1	1	hg19	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	c	0.888	-0.726471	0.03158	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.96168	-3.93;-3.93	4.95	-9.89	0.00464	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.279307	0.34932	N	0.003576	T	0.66005	0.2746	N	0.10707	0.03	0.21762	N	0.999552	B	0.02656	0.0	B	0.15052	0.012	T	0.70432	-0.4873	10	0.02654	T	1	.	10.7308	0.46096	0.0:0.1403:0.2396:0.6201	.	995	Q13733	AT1A4_HUMAN	F	995;131	ENSP00000357060:L995F;ENSP00000433094:L131F	ENSP00000357060:L995F	L	+	1	0	ATP1A4	158422703	0.066000	0.20996	0.413000	0.26509	0.731000	0.41821	-0.802000	0.04545	-1.839000	0.01186	-0.494000	0.04653	CTC		TCGA-IB-7651-01A-11D-2154-08	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	1	0	1	273	1518	0	252		0	0	0	0	252	2		0	0	0	0	0	2	1	1	267	1461	0	252	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASQ1	844	broad.mit.edu	37	1	160160767	160160767	+	Missense_Mutation	SNP	G	G	A	rs79469730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160160767G>A	ENST00000368078.3	+	1	422	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CASQ1_ENST00000368079.3_Missense_Mutation_p.E70K			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)			21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		TGAACCCCCCGAGGATGACAA	0.522000																								0							SO:0001583	missense			ENST00000368078.3	1	1	hg19	CCDS1198.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.66	1.412613	0.25465	0.002497	3.49E-4	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.37915	1.17;1.17	4.21	4.21	0.49690	Thioredoxin-like fold (2);	0.128784	0.51477	D	0.000095	T	0.11153	0.0272	L	0.38838	1.175	0.36259	D	0.854407	B	0.29936	0.262	B	0.19148	0.024	T	0.03910	-1.0993	10	0.06494	T	0.89	.	15.5765	0.76392	0.0:0.0:1.0:0.0	.	76	P31415	CASQ1_HUMAN	K	70;76	ENSP00000357058:E70K;ENSP00000357057:E76K	ENSP00000357057:E76K	E	+	1	0	CASQ1	158427391	0.013000	0.17824	1.000000	0.80357	0.994000	0.84299	1.134000	0.31442	2.202000	0.70862	0.449000	0.29647	GAG		TCGA-IB-7651-01A-11D-2154-08	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	1	0	1	67	191	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	66	186	0	49	2								-3.021618	1	1	121412	103	50	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF8	50717	broad.mit.edu	37	1	160187443	160187443	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160187443C>A	ENST00000368073.3	-	14	2167	c.1733G>T	c.(1732-1734)aGc>aTc	p.S578I	DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I|DCAF8_ENST00000608310.1_Missense_Mutation_p.S732I|DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8			33					GTCTGAGGAGCTGGGAGACTC	0.612000																								0							SO:0001583	missense			ENST00000368073.3	1	1	hg19	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683596	0.68157	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.32;-0.32	4.91	4.91	0.64330	.	0.000000	0.64402	U	0.000001	T	0.81866	0.4913	M	0.79475	2.455	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.78314	0.991;0.944	D	0.84195	0.0447	10	0.87932	D	0	-11.435	17.0487	0.86511	0.0:1.0:0.0:0.0	.	732;578	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	I	578;578;578;732;559;732	ENSP00000357052:S578I;ENSP00000318227:S578I;ENSP00000357053:S578I;ENSP00000451989:S732I;ENSP00000451235:S732I	ENSP00000318227:S578I	S	-	2	0	RP11-574F21.3;DCAF8	158454067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.712000	0.74681	2.549000	0.85964	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	1	0	1	78	272	0	56	1	1	77	232	0	56	2		0	0	0	0	0	2	1	1	76	267	0	56	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX19	5824	broad.mit.edu	37	1	160253413	160253413	+	Silent	SNP	G	G	A	rs141911166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160253413G>A	ENST00000368072.5	-	2	108	c.87C>T	c.(85-87)ttC>ttT	p.F29F	DCAF8_ENST00000608310.1_Intron|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19			11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		TGGCTTTATCGAAATCATCAA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000368072.5	1	1	hg19	CCDS1201.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	0	0	0	86	201	1	54	1	9.999997e-01	28	75	1	54	8		0	0	0	0	0	2	1	1	82	197	1	54	17								-20.000000	1	1	121412	22	42	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COPA	1314	broad.mit.edu	37	1	160261125	160261125	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160261125C>A	ENST00000241704.7	-	31	3649	c.3420G>T	c.(3418-3420)caG>caT	p.Q1140H	COPA_ENST00000368069.3_Splice_Site_p.Q1149H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha			46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		TTCCATCTACCTGTTGGGCCA	0.517000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000241704.7	1	0	hg19	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551477	0.86127	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.48836	0.8;0.8	5.96	5.96	0.96718	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.92219	3.285	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.64042	0.871;0.921	T	0.77749	-0.2471	9	.	.	.	-19.816	18.983	0.92761	0.0:1.0:0.0:0.0	.	1140;1149	P53621;P53621-2	COPA_HUMAN;.	H	1149;1140	ENSP00000357048:Q1149H;ENSP00000241704:Q1140H	.	Q	-	3	2	COPA	158527749	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.120000	0.77153	2.831000	0.97527	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	1	0	1	161	443	0	104	1	1	113	541	0	104	2		0	0	0	0	0	2	1	1	161	439	0	102	2								-7.679043	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COPA	1314	broad.mit.edu	37	1	160277034	160277034	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160277034C>T	ENST00000241704.7	-	14	1450	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	COPA_ENST00000368069.3_Splice_Site_p.A407A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha			46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		TCCCTTCAGGCGCTGAGAAGA	0.537000																								0							SO:0001630	splice_region_variant			ENST00000241704.7	1	0	hg19	CCDS1202.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	1	0	1	177	456	0	123	1	1	53	303	0	123	2		0	0	0	0	0	2	1	1	172	449	0	122	2								-20.000000	1	0	121410	1	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COPA	1314	broad.mit.edu	37	1	160312937	160312937	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160312937C>A	ENST00000241704.7	-	1	253	c.24G>T	c.(22-24)aaG>aaT	p.K8N	NCSTN_ENST00000368063.1_5'Flank|NCSTN_ENST00000392212.4_5'Flank|NCSTN_ENST00000535857.1_5'Flank|NCSTN_ENST00000294785.5_5'Flank|COPA_ENST00000368069.3_Missense_Mutation_p.K8N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha			46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		CCCGCGCGCTCTTGGTCTCGA	0.567000																								0							SO:0001583	missense			ENST00000241704.7	1	1	hg19	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270903	0.80469	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.80994	-1.44;-1.44	4.99	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049517	0.85682	D	0.000000	D	0.85031	0.5604	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.971	D	0.85280	0.1061	10	0.87932	D	0	-17.2707	7.1259	0.25471	0.0:0.7243:0.0:0.2757	.	8;8	P53621;P53621-2	COPA_HUMAN;.	N	8	ENSP00000357048:K8N;ENSP00000241704:K8N	ENSP00000241704:K8N	K	-	3	2	COPA	158579561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.516000	0.35856	0.658000	0.30925	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	0	0	1	370	984	1	209	1	1	31	158	1	209	5		0	0	0	0	0	2	1	1	362	955	0	204	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD84	8832	broad.mit.edu	37	1	160535424	160535424	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160535424G>T	ENST00000311224.4	-	2	224	c.158C>A	c.(157-159)gCt>gAt	p.A53D	CD84_ENST00000368054.3_Missense_Mutation_p.A53D|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.A53D|CD84_ENST00000368048.3_Missense_Mutation_p.A53D|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule			24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)		AGAAGTCCAAGCAATGATTTT	0.413000																								0							SO:0001583	missense			ENST00000311224.4	1	1	hg19	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457780	0.26161	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.11	-0.318	0.12728	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.821648	0.11607	N	0.547213	T	0.04815	0.0130	L	0.39020	1.185	0.09310	N	0.999999	D;P;P;B;P;P	0.56035	0.974;0.596;0.763;0.395;0.53;0.53	P;B;B;B;B;B	0.44518	0.452;0.079;0.117;0.053;0.114;0.114	T	0.20273	-1.0280	10	0.18276	T	0.48	-2.547	3.1063	0.06342	0.2666:0.0:0.4121:0.3212	.	53;53;53;53;53;53	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	D	53	ENSP00000357033:A53D;ENSP00000357027:A53D;ENSP00000312367:A53D;ENSP00000357030:A53D;ENSP00000353163:A53D;ENSP00000357026:A53D	ENSP00000312367:A53D	A	-	2	0	CD84	158802048	0.020000	0.18652	0.228000	0.23943	0.038000	0.13279	0.261000	0.18442	0.119000	0.18210	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	0	0	0	22	588	1	98	0	9.497375e-02	0	45	1	98	4		0	0	0	0	0	2	1	6.652137e-01	21	582	1	98	20								-19.399300	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.460000	0.290000	0.670000	0.450000	0.477163	0.460000	0	3.700000e-01	5.700000e-01
SLC25A34	284723	broad.mit.edu	37	1	16064705	16064705	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16064705T>G	ENST00000294454.5	+	3	643	c.562T>G	c.(562-564)Ttc>Gtc	p.F188V	RP11-169K16.4_ENST00000418525.1_RNA|SLC25A34_ENST00000489568.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34			9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)			GCTGGCCACCTTCGCCTCTGC	0.667000																								0							SO:0001583	missense			ENST00000294454.5	0	1	hg19	CCDS162.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393231	0.62066	.	.	ENSG00000162461	ENST00000294454	T	0.79454	-1.27	5.28	5.28	0.74379	Mitochondrial carrier domain (2);	0.119373	0.56097	D	0.000023	D	0.90484	0.7019	M	0.92219	3.285	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.92838	0.6286	10	0.87932	D	0	.	15.208	0.73195	0.0:0.0:0.0:1.0	.	188	Q6PIV7	S2534_HUMAN	V	188	ENSP00000294454:F188V	ENSP00000294454:F188V	F	+	1	0	SLC25A34	15937292	1.000000	0.71417	0.993000	0.49108	0.044000	0.14063	7.349000	0.79376	1.980000	0.57719	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008467.1	0	0	0	7	252	0	51	0	1.426552e-02	0	6	0	51	2		0	0	0	0	0	2	1	9.793415e-01	7	246	0	50	2								-8.471582	1	0	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.290000	0.130000	0.540000	0.280000	0.314992	0.290000	0	2.000000e-01	4.200000e-01
CD48	962	broad.mit.edu	37	1	160654834	160654834	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160654834G>A	ENST00000368046.3	-	2	315	c.228C>T	c.(226-228)taC>taT	p.Y76Y	RP11-404F10.2_ENST00000443928.2_RNA|CD48_ENST00000368045.3_Silent_p.Y76Y|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule			10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)		TGGATTCAAAGTACTTAGATT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000368046.3	1	1	hg19	CCDS1208.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	1	0	1	125	537	0	104	0	9.999767e-01	0	67	0	104	2		0	0	0	0	0	2	1	1	122	529	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITLN1	55600	broad.mit.edu	37	1	160851893	160851893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160851893C>T	ENST00000326245.3	-	4	374	c.259G>A	c.(259-261)Gag>Aag	p.E87K	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)			21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)		ATGTCATTCTCGTGCACGCTG	0.597000																								0							SO:0001583	missense			ENST00000326245.3	1	1	hg19	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212354	0.79240	.	.	ENSG00000179914	ENST00000326245	T	0.24538	1.85	4.17	4.17	0.49024	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000007	T	0.47857	0.1468	M	0.86502	2.82	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	T	0.58165	-0.7684	10	0.87932	D	0	-19.0439	14.0049	0.64456	0.0:1.0:0.0:0.0	.	87	Q8WWA0	ITLN1_HUMAN	K	87	ENSP00000323587:E87K	ENSP00000323587:E87K	E	-	1	0	ITLN1	159118517	0.997000	0.39634	0.461000	0.27105	0.603000	0.37013	3.878000	0.56130	2.129000	0.65627	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	1	0	1	111	314	0	80	0	1.709478e-01	1	2	0	80	2		0	0	0	0	0	2	1	1	107	298	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITLN2	142683	broad.mit.edu	37	1	160914997	160914997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160914997C>T	ENST00000368029.3	-	8	968	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2			19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		AACGTGAGTTCCATATCCATC	0.557000																								0							SO:0001583	missense			ENST00000368029.3	1	1	hg19	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747339	0.69533	.	.	ENSG00000158764	ENST00000368029	T	0.20069	2.1	4.17	4.17	0.49024	.	0.000000	0.49305	U	0.000143	T	0.45796	0.1360	M	0.91038	3.17	0.45541	D	0.998496	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.58126	-0.7691	10	0.56958	D	0.05	-3.3575	14.3514	0.66705	0.0:1.0:0.0:0.0	.	303;304	A6NI51;Q8WWU7	.;ITLN2_HUMAN	E	304	ENSP00000357008:G304E	ENSP00000357008:G304E	G	-	2	0	ITLN2	159181621	0.999000	0.42202	0.986000	0.45419	0.492000	0.33523	2.695000	0.47043	2.014000	0.59158	0.555000	0.69702	GGA		TCGA-IB-7651-01A-11D-2154-08	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	1	0	1	48	187	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	47	178	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
F11R	50848	broad.mit.edu	37	1	160970463	160970463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160970463C>T	ENST00000368026.6	-	4	620	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor			12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)		TAGCTGTTGCCGCCTTCCTCA	0.542000																								0							SO:0001583	missense			ENST00000368026.6	1	1	hg19	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979286	0.74360	0.0	1.16E-4	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.39592	1.07;1.07	5.18	5.18	0.71444	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.363922	0.28093	N	0.016631	T	0.46756	0.1409	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.65815	0.993;0.972;0.972;0.995	P;B;B;P	0.55112	0.705;0.304;0.304;0.769	T	0.51965	-0.8638	10	0.45353	T	0.12	.	9.7562	0.40504	0.0:0.9054:0.0:0.0946	.	120;116;116;116	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	S	116;116;116;120	ENSP00000357005:G116S;ENSP00000394809:G120S	ENSP00000289779:G116S	G	-	1	0	F11R	159237087	0.989000	0.36119	0.870000	0.34147	0.947000	0.59692	3.702000	0.54800	2.392000	0.81423	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	0	0	1	70	417	1	96	1	1	152	393	1	96	19		0	0	0	0	0	2	1	1	70	410	1	96	17								-2.642422	1	1	121412	4	38	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBLIM1	54751	broad.mit.edu	37	1	16101142	16101142	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16101142C>T	ENST00000375766.3	+	7	1381	c.741C>T	c.(739-741)ggC>ggT	p.G247G	FBLIM1_ENST00000400773.1_Silent_p.G150G|FBLIM1_ENST00000441801.2_Silent_p.G247G|FBLIM1_ENST00000332305.5_Silent_p.G150G|FBLIM1_ENST00000375771.1_Silent_p.G247G	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1			16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)			GCAAGTGTGGCGAGGTGGTCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000375766.3	1	1	hg19	CCDS163.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	0	0	0	52	420	1	85	1	9.999400e-01	49	310	1	85	15		0	0	0	0	0	2	1	9.999931e-01	52	411	1	84	18								-18.534680	1	0	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.890000	0.760000	1.000000	0.930000	0.892406	0.890000	1	8.300000e-01	9.300000e-01
ARHGAP30	257106	broad.mit.edu	37	1	161017863	161017863	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161017863C>T	ENST00000368013.3	-	12	3268	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q|USF1_ENST00000368021.3_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30			37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)		TCGAGAAGCTCGGGACCCCCA	0.592000																								0							SO:0001583	missense			ENST00000368013.3	1	1	hg19	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190700	0.58017	0.0	1.16E-4	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.37584	2.63;2.73;1.19	4.57	3.65	0.41850	.	0.000000	0.37955	N	0.001863	T	0.41328	0.1154	M	0.71581	2.175	0.27381	N	0.95541	D;P	0.89917	1.0;0.614	D;B	0.76575	0.988;0.074	T	0.26224	-1.0109	10	0.44086	T	0.13	.	10.1311	0.42680	0.0:0.8997:0.0:0.1003	.	983;772	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	Q	772;983;806	ENSP00000356995:R772Q;ENSP00000356992:R983Q;ENSP00000356994:R806Q	ENSP00000356992:R983Q	R	-	2	0	ARHGAP30	159284487	0.847000	0.29606	0.984000	0.44739	0.632000	0.37999	2.145000	0.42207	0.890000	0.36211	0.455000	0.32223	CGA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	1	0	1	132	571	0	137	0	1	1	109	0	137	2		0	0	0	0	0	2	1	1	131	563	0	136	2								-20.000000	1	1	121412	3	38	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP30	257106	broad.mit.edu	37	1	161018943	161018943	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161018943T>G	ENST00000368013.3	-	12	2188	c.1868A>C	c.(1867-1869)aAa>aCa	p.K623T	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30			37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)		GATTGGGGGTTTAGGTCCCAG	0.587000																								0							SO:0001583	missense			ENST00000368013.3	1	1	hg19	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	T	4.850	0.157960	0.09236	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.32988	2.98;2.96;1.43	5.18	1.3	0.21679	.	0.402704	0.20863	N	0.084316	T	0.08447	0.0210	M	0.67953	2.075	0.09310	N	1	B;P	0.37276	0.309;0.589	B;B	0.30316	0.058;0.114	T	0.25328	-1.0135	10	0.20046	T	0.44	.	4.0315	0.09711	0.0:0.1361:0.4473:0.4166	.	623;623	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	T	623;623;446	ENSP00000356995:K623T;ENSP00000356992:K623T;ENSP00000356994:K446T	ENSP00000356992:K623T	K	-	2	0	ARHGAP30	159285567	0.017000	0.18338	0.604000	0.28916	0.086000	0.17979	0.109000	0.15417	0.263000	0.21812	0.454000	0.30748	AAA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	0	0	0	41	1151	0	195	0	7.290600e-01	1	73	0	195	2		0	0	0	0	0	2	1	1	39	1112	0	193	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.430000	0.310000	0.580000	0.450000	0.447784	0.430000	0	3.700000e-01	5.100000e-01
DEDD	9191	broad.mit.edu	37	1	161094177	161094177	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161094177G>T	ENST00000368006.3	-	3	290	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|DEDD_ENST00000392188.1_Missense_Mutation_p.L26M|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000490843.2_Missense_Mutation_p.L26M	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing			10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)		ATGCGGTGCAGGCTGTACAGC	0.572000																								0							SO:0001583	missense			ENST00000368006.3	1	1	hg19	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844544	0.71488	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.13	5.13	0.70059	DEATH-like (1);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	T	0.66352	-0.5945	9	0.87932	D	0	.	9.4848	0.38922	0.0932:0.0:0.9068:0.0	.	26;26;26	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	M	26	.	ENSP00000356984:L26M	L	-	1	2	DEDD	159360801	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.905000	0.56333	2.669000	0.90835	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	1	0	1	76	323	0	75	1	1	49	168	0	75	2		0	0	0	0	0	2	1	1	73	315	0	74	2								-3.495708	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UFC1	51506	broad.mit.edu	37	1	161123792	161123792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161123792C>T	ENST00000368003.5	+	1	251	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1			10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		TCCAAGATGGCGGATGAAGCC	0.567000																								0							SO:0001583	missense			ENST00000368003.5	1	1	hg19	CCDS1220.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368124	0.42003	.	.	ENSG00000143222	ENST00000368003	T	0.38722	1.12	5.98	5.07	0.68467	.	0.061965	0.64402	D	0.000006	T	0.02649	0.0080	N	0.00162	-1.95	0.49582	D	0.999807	B	0.06786	0.001	B	0.01281	0.0	T	0.45440	-0.9261	10	0.02654	T	1	-14.3177	9.4486	0.38712	0.1438:0.7842:0.0:0.072	.	2	Q9Y3C8	UFC1_HUMAN	V	2	ENSP00000356982:A2V	ENSP00000356982:A2V	A	+	2	0	UFC1	159390416	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.058000	0.57463	1.552000	0.49463	-0.154000	0.13518	GCG		TCGA-IB-7651-01A-11D-2154-08	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080810.1	1	0	1	54	260	0	75	1	1	128	457	0	75	2		0	0	0	0	0	2	1	1	54	254	0	74	2								-3.070456	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP21	27005	broad.mit.edu	37	1	161130902	161130902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161130902C>T	ENST00000289865.8	+	2	693	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.R158C|USP21_ENST00000368001.1_Missense_Mutation_p.R158C	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21			29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		CACTTCTCTCCGCCGCCTAGG	0.652000																								0							SO:0001583	missense			ENST00000289865.8	1	1	hg19	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867316	0.72065	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45668	0.89;0.89;0.89	4.89	4.89	0.63831	.	0.164770	0.26503	U	0.024020	T	0.19446	0.0467	N	0.08118	0	0.44162	D	0.996967	D	0.62365	0.991	P	0.47603	0.551	T	0.10800	-1.0614	10	0.72032	D	0.01	.	13.4333	0.61068	0.0:1.0:0.0:0.0	.	158	Q9UK80	UBP21_HUMAN	C	158	ENSP00000356981:R158C;ENSP00000289865:R158C;ENSP00000356980:R158C	ENSP00000289865:R158C	R	+	1	0	USP21	159397526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.808000	0.47963	2.538000	0.85594	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1	1	0	1	71	335	0	72	1	9.999553e-01	9	62	0	72	2		0	0	0	0	0	2	1	1	68	324	0	72	2								-3.016562	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP21	27005	broad.mit.edu	37	1	161133729	161133729	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161133729G>A	ENST00000289865.8	+	8	1397	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368002.3_Silent_p.T392T|PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000493054.1_Intron|USP21_ENST00000368001.1_Silent_p.T392T|PPOX_ENST00000367999.4_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21			29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		ATCGCTCCACGACCTTCGAGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000289865.8	1	1	hg19	CCDS30920.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1	1	0	1	82	479	0	100	1	9.998964e-01	10	69	0	100	2		0	0	0	0	0	2	1	1	82	471	0	98	2								-3.319034	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP21	27005	broad.mit.edu	37	1	161135183	161135183	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161135183C>T	ENST00000289865.8	+	13	1865	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368002.3_Silent_p.S548S|PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000493054.1_3'UTR|USP21_ENST00000368001.1_Silent_p.S534S|PPOX_ENST00000367999.4_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21			29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		TGGCATCCAGCGAGGGCTACG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000289865.8	1	1	hg19	CCDS30920.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1	0	0	0	13	331	0	56	1	8.279261e-01	7	77	0	56	2		0	0	0	0	0	2	1	9.994726e-01	13	322	0	56	2								-13.437980	1	1	121412	1	31	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.490000	0.270000	0.780000	0.480000	0.511537	0.490000	0	3.700000e-01	6.400000e-01
PPOX	5498	broad.mit.edu	37	1	161138934	161138934	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161138934G>A	ENST00000367999.4	+	7	1034	c.768G>A	c.(766-768)ccG>ccA	p.P256P	PPOX_ENST00000352210.5_Silent_p.P256P|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase			15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		GAGGCCAGCCGGTCTGTGGGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000367999.4	1	0	hg19	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661927	0.14645	.	.	ENSG00000143224	ENST00000537523	.	.	.	5.57	-4.96	0.03038	.	.	.	.	.	T	0.19287	0.0463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43196	-0.9406	4	.	.	.	-20.6534	0.8689	0.01210	0.3306:0.1025:0.2661:0.3009	.	.	.	.	Q	69	.	.	R	+	2	0	PPOX	159405558	0.069000	0.21087	0.445000	0.26908	0.743000	0.42351	-0.901000	0.04093	-0.469000	0.06911	-0.937000	0.02696	CGG		TCGA-IB-7651-01A-11D-2154-08	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	0	0	1	75	353	2	75	1	9.685708e-01	7	56	2	75	6		0	0	0	0	0	2	1	9.999999e-01	72	342	2	72	26								-3.015060	1	0	121412	1	35	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPOX	5498	broad.mit.edu	37	1	161140296	161140296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161140296G>A	ENST00000367999.4	+	10	1351	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	PPOX_ENST00000352210.5_Missense_Mutation_p.G362D|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase			15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		AGCCCCCCTGGCCTCAGAGTG	0.542000																								0		GRCh37	CI992582	PPOX	I		SO:0001583	missense			ENST00000367999.4	1	1	hg19	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.140231|2.140231	0.37825|0.37825	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.|D;D;D	.|0.94280	.|-3.13;-3.13;-3.39	5.42|5.42	4.51|4.51	0.55191|0.55191	.|Amine oxidase (1);	.|0.289920	.|0.38272	.|N	.|0.001745	D|D	0.91586|0.91586	0.7342|0.7342	L|L	0.41710|0.41710	1.295|1.295	0.34783|0.34783	D|D	0.734969|0.734969	.|B;B;P;B	.|0.42409	.|0.023;0.147;0.779;0.348	.|B;P;P;P	.|0.58970	.|0.046;0.546;0.849;0.694	D|D	0.91807|0.91807	0.5456|0.5456	5|10	.|0.51188	.|T	.|0.08	5.9863|5.9863	10.12|10.12	0.42614|0.42614	0.09:0.0:0.91:0.0|0.09:0.0:0.91:0.0	.|.	.|107;33;200;362	.|B4DQQ7;Q96SE3;B3KT30;P50336	.|.;.;.;PPOX_HUMAN	T|D	115;85|362;362;329;107	.|ENSP00000343943:G362D;ENSP00000356978:G362D;ENSP00000396841:G107D	.|ENSP00000343943:G362D	A|G	+|+	1|2	0|0	PPOX|PPOX	159406920|159406920	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.799000|0.799000	0.45148|0.45148	2.632000|2.632000	0.46511|0.46511	1.524000|1.524000	0.49035|0.49035	-0.157000|-0.157000	0.13467|0.13467	GCC|GGC		TCGA-IB-7651-01A-11D-2154-08	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	1	0	1	99	303	0	83	1	9.999984e-01	36	26	0	83	2		0	0	0	0	0	2	1	1	100	297	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B4GALT3	8703	broad.mit.edu	37	1	161144912	161144912	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161144912C>T	ENST00000319769.5	-	4	582	c.360G>A	c.(358-360)gaG>gaA	p.E120E	B4GALT3_ENST00000367998.1_Silent_p.E120E|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3			18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)	N-Acetyl-D-glucosamine(DB00141)	GGGAGCGGGGCTCACAACCTG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000319769.5	0	1	hg19	CCDS1222.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	0	0	0	23	873	0	114	1	9.751158e-01	12	213	0	114	2		0	0	0	0	0	2	1	9.999992e-01	23	857	0	113	2								-3.096056	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.320000	0.210000	0.480000	0.330000	0.339909	0.320000	0	2.600000e-01	4.100000e-01
ADAMTS4	9507	broad.mit.edu	37	1	161161259	161161259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161161259G>A	ENST00000367996.5	-	9	2611	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4			43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)	Tinzaparin(DB06822)	CAGCTTCAGGGCCAAGTAGAT	0.597000																								0							SO:0001583	missense			ENST00000367996.5	1	1	hg19	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867031	0.91511	.	.	ENSG00000158859	ENST00000367996	T	0.63255	-0.03	4.39	4.39	0.52855	ADAM-TS Spacer 1 (1);	0.088861	0.46758	D	0.000278	T	0.67813	0.2933	M	0.78801	2.425	0.80722	D	1	P	0.45474	0.859	P	0.51777	0.679	T	0.74281	-0.3716	10	0.87932	D	0	.	16.2366	0.82380	0.0:0.0:1.0:0.0	.	728	O75173	ATS4_HUMAN	V	728	ENSP00000356975:A728V	ENSP00000356975:A728V	A	-	2	0	ADAMTS4	159427883	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.382000	0.79729	2.428000	0.82296	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	1	0	1	87	401	0	84	0	9.999061e-01	0	64	0	84	2		0	0	0	0	0	2	1	1	84	397	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS4	9507	broad.mit.edu	37	1	161168079	161168079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161168079G>A	ENST00000367996.5	-	1	767	c.339C>T	c.(337-339)ggC>ggT	p.G113G	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.G113G	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4			43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)	Tinzaparin(DB06822)	CAGGCGCCTGGCCCAGGTACT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000367996.5	1	1	hg19	CCDS1223.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	1	0	1	35	285	0	55	0	9.373099e-01	0	40	0	55	2		0	0	0	0	0	2	1	1	35	279	0	54	2								-3.318798	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998545	0.990000	1	9.900000e-01	1
NR1I3	9970	broad.mit.edu	37	1	161201197	161201197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161201197G>A	ENST00000367982.4	-	6	771	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367983.4_Missense_Mutation_p.L206F|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F|NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3			15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		GTGGTATTGAGTACGATGTGA	0.483000																								0							SO:0001583	missense			ENST00000367982.4	1	1	hg19	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.277226	0.01410	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.73	2.7	0.31948	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.213818	0.49305	N	0.000146	D	0.91848	0.7420	N	0.21508	0.67	0.36247	D	0.853640	B;B;D;B;P;B;P;B;D;B;B;B;D;B;B;P;P;D	0.89917	0.107;0.075;1.0;0.01;0.462;0.01;0.752;0.019;1.0;0.12;0.082;0.101;1.0;0.019;0.143;0.572;0.758;1.0	B;B;D;B;B;B;B;B;D;B;B;B;D;B;B;B;B;D	0.97110	0.103;0.055;1.0;0.016;0.115;0.011;0.333;0.033;1.0;0.161;0.048;0.048;1.0;0.033;0.035;0.186;0.285;0.999	D	0.88290	0.2942	9	0.16420	T	0.52	.	11.6402	0.51228	0.0:0.0:0.5307:0.4693	.	206;177;177;206;206;206;206;206;206;206;131;177;177;177;177;177;177;206	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	F	177;206;206;177;206;177;206;206;177;206;177;177;177;131;206;206;206;177;206	ENSP00000425417:L177F;ENSP00000356962:L206F;ENSP00000356959:L206F;ENSP00000407446:L177F;ENSP00000406493:L206F;ENSP00000399361:L177F;ENSP00000412672:L206F;ENSP00000424934:L206F;ENSP00000423666:L177F;ENSP00000356961:L206F;ENSP00000424345:L177F;ENSP00000427175:L177F;ENSP00000356960:L177F;ENSP00000421588:L131F;ENSP00000356963:L206F;ENSP00000356965:L206F;ENSP00000356958:L206F;ENSP00000423089:L177F;ENSP00000427034:L206F	ENSP00000356958:L206F	L	-	1	0	NR1I3	159467821	0.996000	0.38824	0.276000	0.24689	0.457000	0.32468	2.861000	0.48380	0.282000	0.22254	-0.293000	0.09583	CTC		TCGA-IB-7651-01A-11D-2154-08	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2	1	0	1	144	402	0	103	1	1.734862e-01	3	0	0	103	2		0	0	0	0	0	2	1	1	134	383	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPZ	4359	broad.mit.edu	37	1	161277072	161277072	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161277072G>A	ENST00000533357.1	-	2	276	c.210C>T	c.(208-210)ccC>ccT	p.P70P	MPZ_ENST00000360451.6_Silent_p.P80P|MPZ_ENST00000336559.4_Silent_p.P70P|MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000491222.2_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero			10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)		TGCCCCCTTCGGGCTGGTAGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000533357.1	1	1	hg19	CCDS1229.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	1	0	1	34	182	0	59	0	2.495792e-01	1	5	0	59	2		0	0	0	0	0	2	1	1	34	177	0	59	2								-2.834873	1	1	121412	9	40	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FCGR2A	2212	broad.mit.edu	37	1	161483694	161483694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161483694C>T	ENST00000271450.6	+	6	790	c.752C>T	c.(751-753)aCt>aTt	p.T251I	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)			19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCAATTCCACTGATCCTGTG	0.502000																								0							SO:0001583	missense			ENST00000271450.6	0	1	hg19	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	9.031	0.987260	0.18889	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01821	4.62;4.62	2.16	0.207	0.15214	.	0.547369	0.14986	N	0.286962	T	0.00695	0.0023	L	0.55481	1.735	0.21604	N	0.999625	P;P	0.43352	0.704;0.804	B;B	0.37550	0.183;0.253	T	0.52631	-0.8550	9	0.45353	T	0.12	.	4.3943	0.11355	0.0:0.6442:0.0:0.3558	.	251;250	P12318;P12318-2	FCG2A_HUMAN;.	I	250;251	ENSP00000356949:T250I;ENSP00000271450:T251I	ENSP00000271450:T251I	T	+	2	0	FCGR2A	159750318	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.148000	0.16224	0.044000	0.15775	-0.291000	0.09656	ACT		TCGA-IB-7651-01A-11D-2154-08	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	0	0	0	36	1160	1	216	0	4.387879e-01	0	110	1	216	4		0	0	0	0	0	2	1	9.893433e-01	30	1113	1	215	19								-3.188688	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.380000	0.270000	0.520000	0.390000	0.393161	0.380000	0	3.200000e-01	4.500000e-01
FCGR2A	2212	broad.mit.edu	37	1	161487824	161487824	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.D279D|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)			19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000271450.6	1	1	hg19	CCDS44264.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	1	0	1	95	274	0	75	0	1	0	406	0	75	2		0	0	0	0	0	2	1	1	82	237	0	84	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA6	3310	broad.mit.edu	37	1	161494843	161494843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161494843C>T	ENST00000309758.4	+	1	808	c.395C>T	c.(394-396)aCg>aTg	p.T132M	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')			21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		ATGAAGGAGACGGCCGAGGCG	0.652000																								0							SO:0001583	missense			ENST00000309758.4	0	1	hg19	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	10.02	1.235850	0.22626	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01119	5.31	3.12	0.154	0.14901	.	0.000000	0.40908	U	0.000996	T	0.02193	0.0068	M	0.92507	3.315	0.31186	N	0.701505	D	0.59767	0.986	P	0.55999	0.789	T	0.09707	-1.0662	9	0.87932	D	0	-24.4216	6.6142	0.22769	0.0:0.6496:0.0:0.3504	.	132	P17066	HSP76_HUMAN	M	132;108	ENSP00000310219:T132M	ENSP00000310219:T132M	T	+	2	0	HSPA6	159761467	0.914000	0.31030	0.129000	0.21949	0.160000	0.22226	1.551000	0.36233	-0.194000	0.10399	-0.480000	0.04831	ACG		TCGA-IB-7651-01A-11D-2154-08	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	0	0	0	6	148	0	31	0	5.045914e-02	1	7	0	31	2		0	0	0	0	0	2	1	9.424919e-01	4	126	0	49	2								-8.999548	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.520000	0.220000	0.990000	1.000000	0.556974	0.520000	0	3.500000e-01	7.500000e-01
HSPA6	3310	broad.mit.edu	37	1	161495182	161495182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495182A>C	ENST00000309758.4	+	1	1147	c.734A>C	c.(733-735)gAa>gCa	p.E245A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')			21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		CACTTCATGGAAGAATTCCGG	0.612000																								0							SO:0001583	missense			ENST00000309758.4	0	1	hg19	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	2.387	-0.340732	0.05243	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10573	2.86	3.33	2.14	0.27477	.	0.328529	0.21359	U	0.075823	T	0.01940	0.0061	N	0.13299	0.325	0.39726	D	0.971536	B	0.20550	0.046	B	0.28784	0.094	T	0.41645	-0.9497	10	0.18276	T	0.48	.	7.5452	0.27761	0.781:0.2189:0.0:0.0	.	245	P17066	HSP76_HUMAN	A	245;221	ENSP00000310219:E245A	ENSP00000310219:E245A	E	+	2	0	HSPA6	159761806	0.450000	0.25697	0.014000	0.15608	0.037000	0.13140	1.070000	0.30653	0.326000	0.23384	0.478000	0.44815	GAA		TCGA-IB-7651-01A-11D-2154-08	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	0	0	0	21	120	0	28	0	4.650324e-01	0	10	0	28	2		0	0	0	0	0	2	1	9.999327e-01	13	82	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999847	0.990000	1	9.900000e-01	1
HSPA6	3310	broad.mit.edu	37	1	161495386	161495386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495386G>A	ENST00000309758.4	+	1	1351	c.938G>A	c.(937-939)cGc>cAc	p.R313H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')			21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		GACCTCTTCCGCAGCACCCTG	0.632000																								0							SO:0001583	missense			ENST00000309758.4	1	1	hg19	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	17.93	3.509864	0.64522	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01051	5.4	3.12	3.12	0.35913	.	0.187022	0.25919	U	0.027454	T	0.04815	0.0130	M	0.90922	3.16	0.44110	D	0.99688	D	0.89917	1.0	D	0.91635	0.999	T	0.02691	-1.1123	10	0.87932	D	0	.	11.6907	0.51514	0.0:0.0:1.0:0.0	.	313	P17066	HSP76_HUMAN	H	313;289	ENSP00000310219:R313H	ENSP00000310219:R313H	R	+	2	0	HSPA6	159762010	1.000000	0.71417	0.930000	0.37139	0.643000	0.38383	5.496000	0.66918	1.544000	0.49359	0.543000	0.68304	CGC		TCGA-IB-7651-01A-11D-2154-08	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	1	0	0	34	152	0	34	0	1.616431e-01	0	4	0	34	2		0	0	0	0	0	2	1	1	30	136	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCRLB	127943	broad.mit.edu	37	1	161695827	161695827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161695827C>T	ENST00000367948.2	+	6	739	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B			17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)		ATGCGCATCCCGGTGGAGAGC	0.637000											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000367948.2	1	1	hg19	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547364	0.86022	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82;5.82	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.256742	0.27715	N	0.018148	T	0.01189	0.0039	L	0.36672	1.1	0.50039	D	0.999846	D;D;D;D;D	0.89917	0.981;1.0;0.999;0.994;1.0	B;D;P;P;D	0.87578	0.43;0.998;0.864;0.764;0.987	T	0.75260	-0.3380	10	0.48119	T	0.1	.	12.7124	0.57098	0.0:1.0:0.0:0.0	.	168;168;175;175;175	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	L	175;175;168;175;168;175	ENSP00000356925:P175L;ENSP00000356923:P175L;ENSP00000356922:P168L;ENSP00000338598:P175L;ENSP00000356921:P168L;ENSP00000375999:P175L	ENSP00000338598:P175L	P	+	2	0	FCRLB	159962451	0.946000	0.32159	0.995000	0.50966	0.976000	0.68499	2.163000	0.42377	2.038000	0.60285	0.455000	0.32223	CCG		TCGA-IB-7651-01A-11D-2154-08	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	1	0	1	51	258	0	60	0	2.840300e-02	0	2	0	60	2		0	0	0	0	0	2	1	1	51	254	0	59	2								-2.996024	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP12	11266	broad.mit.edu	37	1	161721475	161721475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161721475G>A	ENST00000367943.4	+	2	394	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12			5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)		GGAGTCAGTCGAAGTGTGGCC	0.388000																								0							SO:0001583	missense			ENST00000367943.4	1	1	hg19	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300539	0.81136	.	.	ENSG00000081721	ENST00000367943	D	0.98345	-4.88	5.04	5.04	0.67666	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97918	4.105	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98383	1.0559	9	0.87932	D	0	.	16.2929	0.82759	0.0:0.0:1.0:0.0	.	121	Q9UNI6	DUS12_HUMAN	Q	121	ENSP00000356920:R121Q	ENSP00000356920:R121Q	R	+	2	0	DUSP12	159988099	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.939000	0.87685	2.504000	0.84457	0.479000	0.44913	CGA		TCGA-IB-7651-01A-11D-2154-08	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	1	0	1	123	583	0	138	1	9.999086e-01	10	55	0	138	2		0	0	0	0	0	2	1	1	121	568	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATF6	22926	broad.mit.edu	37	1	161821543	161821543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161821543C>T	ENST00000367942.3	+	11	1418	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6			34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)	Pseudoephedrine(DB00852)	TGACAAAGCCCTGATGGTGCT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000367942.3	1	1	hg19	CCDS1235.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	1	0	0	140	754	0	140	1	1	51	155	0	140	2		0	0	0	0	0	2	1	1	139	737	0	139	2								-3.075962	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OLFML2B	25903	broad.mit.edu	37	1	161970022	161970022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161970022C>T	ENST00000294794.3	-	5	1253	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R278Q	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B			48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)		CTGCAGGGGCCGCTGTGACTT	0.607000																								0							SO:0001583	missense			ENST00000294794.3	1	1	hg19	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014654	0.35511	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86627	-2.15;-2.15	5.22	2.2	0.27929	.	.	.	.	.	T	0.50034	0.1592	N	0.08118	0	0.26593	N	0.973169	B;B	0.13594	0.008;0.006	B;B	0.06405	0.001;0.002	T	0.04509	-1.0946	8	0.18276	T	0.48	.	5.8403	0.18629	0.0:0.5323:0.2982:0.1695	.	278;277	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	Q	277;278	ENSP00000294794:R277Q;ENSP00000356917:R278Q	ENSP00000294794:R277Q	R	-	2	0	OLFML2B	160236646	0.722000	0.28017	0.959000	0.39883	0.888000	0.51559	0.307000	0.19296	0.172000	0.19760	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	1	0	1	75	416	0	89	0	1	0	142	0	89	2		0	0	0	0	0	2	1	1	75	403	0	82	2								-20.000000	1	1	121412	5	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOS1AP	9722	broad.mit.edu	37	1	162324979	162324979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162324979C>T	ENST00000361897.5	+	7	1000	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein			32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)		TCCTGCAGGCCGCCAGCTCAC	0.552000																								0							SO:0001583	missense			ENST00000361897.5	1	1	hg19	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718500	0.48622	6.81E-4	0.0	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78481	-1.18;-1.18	5.41	4.49	0.54785	.	0.258632	0.40144	N	0.001173	T	0.42314	0.1197	N	0.13003	0.285	.	.	.	B;B;B	0.23591	0.088;0.018;0.018	B;B;B	0.08055	0.003;0.003;0.003	T	0.39921	-0.9590	9	0.45353	T	0.12	.	7.3999	0.26958	0.0:0.8359:0.0:0.1641	.	195;195;200	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	C	195;200	ENSP00000431586:R195C;ENSP00000355133:R200C	ENSP00000355133:R200C	R	+	1	0	NOS1AP	160591603	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.114000	0.41911	2.523000	0.85059	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	0	0	1	80	459	1	87	1	2.828975e-01	3	4	1	87	2		0	0	0	0	0	2	1	1	80	450	1	87	20								-3.076245	1	1	121412	8	41	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf111	284680	broad.mit.edu	37	1	162344026	162344026	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162344026T>G	ENST00000367935.5	-	3	677	c.598A>C	c.(598-600)Agc>Cgc	p.S200R	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111			11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)		TTGATGTGGCTCTTGAGGAAG	0.602000																								0							SO:0001583	missense			ENST00000367935.5	1	1	hg19	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646307	0.67358	.	.	ENSG00000171722	ENST00000367935	T	0.31510	1.49	5.14	4.02	0.46733	.	0.141394	0.50627	D	0.000109	T	0.31979	0.0814	M	0.72118	2.19	0.29686	N	0.84129	D	0.55385	0.971	P	0.58454	0.839	T	0.26780	-1.0093	9	0.46703	T	0.11	-30.4254	8.3206	0.32126	0.0:0.0907:0.0:0.9093	.	200	Q5T0L3	CA111_HUMAN	R	200	ENSP00000356912:S200R	ENSP00000356912:S200R	S	-	1	0	C1orf111	160610650	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.535000	0.36061	0.811000	0.34303	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	1	0	1	249	718	0	186	0	6.676029e-02	1	1	0	186	2		0	0	0	0	0	2	1	1	244	708	0	185	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UHMK1	127933	broad.mit.edu	37	1	162467986	162467986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162467986G>A	ENST00000489294.1	+	1	354	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1			11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)		CGGGGCTGCGGCCTCTGCCGC	0.642000																								0							SO:0001583	missense			ENST00000489294.1	1	1	hg19	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983902	0.53827	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.65732	-0.17;-0.17	4.94	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177523	0.50627	D	0.000113	T	0.34019	0.0883	L	0.41079	1.255	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	9	0.41790	T	0.15	-7.9138	10.5334	0.44990	0.0:0.0:0.8071:0.1929	.	66;66	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	T	66	ENSP00000446416:A66T;ENSP00000420270:A66T	ENSP00000420270:A66T	A	+	1	0	UHMK1	160734610	.	.	0.596000	0.28811	0.984000	0.73092	.	.	1.368000	0.46115	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	1	0	1	53	153	0	20	1	9.999992e-01	25	41	0	20	2		0	0	0	0	0	2	1	1	52	152	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEN	23013	broad.mit.edu	37	1	16254623	16254623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16254623C>T	ENST00000375759.3	+	11	2092	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor			149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)			TAACCAAGATCGTACATATTA	0.408000																								0							SO:0001583	missense			ENST00000375759.3	1	1	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013004	0.54468	.	.	ENSG00000065526	ENST00000375759	T	0.12039	2.72	4.54	4.54	0.55810	.	.	.	.	.	T	0.28566	0.0707	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03898	-1.0994	9	0.72032	D	0.01	-7.2375	17.8431	0.88720	0.0:1.0:0.0:0.0	.	630	Q96T58	MINT_HUMAN	C	630	ENSP00000364912:R630C	ENSP00000364912:R630C	R	+	1	0	SPEN	16127210	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.465000	0.60141	2.514000	0.84764	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1	88	346	0	87	1	9.985639e-01	7	33	0	87	2		0	0	0	0	0	2	1	1	87	337	0	85	2								-3.691303	1	1	121412	2	36	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.920000	0.870000	1.000000	0.930000	0.939581	0.920000	1	9.000000e-01	1
SPEN	23013	broad.mit.edu	37	1	16255163	16255163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16255163C>T	ENST00000375759.3	+	11	2632	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor			149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)			ACGCTTAATACGGAAGGAAAA	0.423000																								0							SO:0001583	missense			ENST00000375759.3	1	1	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428832	0.43122	.	.	ENSG00000065526	ENST00000375759	T	0.12672	2.66	4.89	2.76	0.32466	.	.	.	.	.	T	0.11495	0.0280	L	0.56769	1.78	0.52099	D	0.999943	P	0.48694	0.914	B	0.35182	0.197	T	0.05920	-1.0856	9	0.87932	D	0	-8.5576	7.0484	0.25059	0.4093:0.4772:0.0:0.1135	.	810	Q96T58	MINT_HUMAN	W	810	ENSP00000364912:R810W	ENSP00000364912:R810W	R	+	1	2	SPEN	16127750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.142000	0.50601	0.481000	0.27557	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1	45	395	0	105	1	9.884905e-01	5	58	0	105	2		0	0	0	0	0	2	1	1	45	389	0	105	2								-14.248430	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.880000	0.720000	1.000000	0.930000	0.875195	0.880000	1	8.100000e-01	9.300000e-01
SPEN	23013	broad.mit.edu	37	1	16258456	16258456	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16258456C>A	ENST00000375759.3	+	11	5925	c.5721C>A	c.(5719-5721)gtC>gtA	p.V1907V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor			149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)			TAAGGAGCGTCTATGCAACCA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000375759.3	1	1	hg19	CCDS164.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1	43	401	0	93	1	9.856415e-01	9	55	0	93	2		0	0	0	0	0	2	1	1	41	395	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.870000	0.690000	1.000000	0.930000	0.862969	0.870000	1	7.900000e-01	9.200000e-01
SPEN	23013	broad.mit.edu	37	1	16264404	16264404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16264404G>A	ENST00000375759.3	+	13	10811	c.10607G>A	c.(10606-10608)cGg>cAg	p.R3536Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor			149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)			CTGGCCCATCGGTCCCTGCCC	0.622000																								0							SO:0001583	missense			ENST00000375759.3	1	1	hg19	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727230	0.89390	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.3	5.3	0.74995	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.10423	0.0255	L	0.38175	1.15	0.58432	D	0.999999	P	0.48294	0.908	B	0.39217	0.294	T	0.26538	-1.0100	9	0.18276	T	0.48	-15.3801	19.3263	0.94264	0.0:0.0:1.0:0.0	.	3536	Q96T58	MINT_HUMAN	Q	3536	ENSP00000364912:R3536Q	ENSP00000364912:R3536Q	R	+	2	0	SPEN	16136991	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.350000	0.97070	2.628000	0.89032	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	1	0	1	97	422	0	136	1	1	49	65	0	136	2		0	0	0	0	0	2	1	1	95	418	0	133	2								-2.863796	1	1	121412	1	29	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.920000	0.880000	1.000000	0.930000	0.940373	0.920000	1	9.000000e-01	1
DDR2	4921	broad.mit.edu	37	1	162737131	162737131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162737131G>A	ENST00000367922.3	+	12	1713	c.1275G>A	c.(1273-1275)tgG>tgA	p.W425*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2			7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)	Regorafenib(DB08896)	GGCAGTTCTGGCAGAAAATGC	0.473000													NSCLC(161;314 2006 8283 19651 23192)											0							SO:0001587	stop_gained			ENST00000367922.3	0	1	hg19	CCDS1241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.272855|6.272855	0.97431|0.97431	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000433757|ENST00000367922;ENST00000367921;ENST00000458105	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.56963|.	0.2021|.	.|.	.|.	.|.	.|0.80722	.|D	.|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50915|.	-0.8771|.	3|.	.|0.18276	.|T	.|0.48	.|.	18.6038|18.6038	0.91259|0.91259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	18|425;425;35	.|.	.|ENSP00000356898:W425X	A|W	+|+	1|3	0|0	DDR2|DDR2	161003755|161003755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.295000|9.295000	0.96095|0.96095	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCA|TGG		TCGA-IB-7651-01A-11D-2154-08	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	1	0	0	61	326	0	68	1	9.992069e-01	3	56	0	68	2		0	0	0	0	0	2	1	1	58	325	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDR2	4921	broad.mit.edu	37	1	162741822	162741822	+	Missense_Mutation	SNP	G	G	A	rs115169993	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162741822G>A	ENST00000367922.3	+	14	1951	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	DDR2_ENST00000367921.3_Missense_Mutation_p.G505S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2			7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)	Regorafenib(DB08896)	AGGCTGCAGCGGTGTTGTGAA	0.567000													NSCLC(161;314 2006 8283 19651 23192)											0							SO:0001583	missense			ENST00000367922.3	0	0	hg19	CCDS1241.1	5|5	0.0022893772893772895|0.0022893772893772895	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	10.21|10.21	1.286147|1.286147	0.23478|0.23478	0.008398|0.008398	1.16E-4|1.16E-4	ENSG00000162733|ENSG00000162733	ENST00000367922;ENST00000367921|ENST00000433757	D;D|.	0.83335|.	-1.71;-1.71|.	5.27|5.27	1.98|1.98	0.26296|0.26296	.|.	0.433730|.	0.26907|.	N|.	0.021892|.	T|T	0.21550|0.21550	0.0519|0.0519	L|L	0.54323|0.54323	1.7|1.7	.|.	.|.	.|.	B|.	0.25850|.	0.136|.	B|.	0.19148|.	0.024|.	T|T	0.19418|0.19418	-1.0306|-1.0306	9|4	0.20046|.	T|.	0.44|.	.|.	2.398|2.398	0.04394|0.04394	0.1828:0.1446:0.5245:0.1481|0.1828:0.1446:0.5245:0.1481	.|.	505|.	Q16832|.	DDR2_HUMAN|.	S|Q	505|97	ENSP00000356899:G505S;ENSP00000356898:G505S|.	ENSP00000356898:G505S|.	G|R	+|+	1|2	0|0	DDR2|DDR2	161008446|161008446	0.608000|0.608000	0.26966|0.26966	0.759000|0.759000	0.31340|0.31340	0.151000|0.151000	0.21798|0.21798	0.821000|0.821000	0.27338|0.27338	1.132000|1.132000	0.42129|0.42129	0.655000|0.655000	0.94253|0.94253	GGT|CGG		TCGA-IB-7651-01A-11D-2154-08	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	1	0	1	12	84	0	17	1	9.969276e-01	3	71	0	17	2		0	0	0	0	0	2	1	9.991211e-01	12	80	0	17	2								-4.039383	1	0	121380	100	47	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.900000	1.000000	1.000000	0.994076	0.990000	1	9.900000e-01	1
C1orf110	339512	broad.mit.edu	37	1	162824821	162824821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162824821C>T	ENST00000367910.1	-	4	763	c.643G>A	c.(643-645)Gct>Act	p.A215T	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110			12					GGCTTTAGAGCAACATCTTTT	0.463000																								0							SO:0001583	missense			ENST00000367910.1	1	1	hg19	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435252	0.25813	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	-0.526	0.11913	.	1.624330	0.03204	N	0.175223	T	0.10895	0.0266	N	0.19112	0.55	0.22888	N	0.998608	B	0.10296	0.003	B	0.10450	0.005	T	0.17228	-1.0376	8	0.30854	T	0.27	-0.394	7.2838	0.26326	0.0:0.5225:0.0:0.4775	.	215	Q86UF4	CA110_HUMAN	T	215	.	ENSP00000356886:A215T	A	-	1	0	C1orf110	161091445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.340000	0.02650	-0.025000	0.13918	-0.302000	0.09304	GCT		TCGA-IB-7651-01A-11D-2154-08	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	1	0	1	82	473	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	78	469	0	105	2								-20.000000	1	1	120888	1	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLCNKA	1187	broad.mit.edu	37	1	16351370	16351370	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16351370C>A	ENST00000331433.4	+	4	361	c.342C>A	c.(340-342)atC>atA	p.I114I	CLCNKA_ENST00000420078.1_Silent_p.I114I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Silent_p.I114I|CLCNKA_ENST00000439316.2_Intron			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka			19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Niflumic Acid(DB04552)	CCCAGAGCATCACGCCCTCCT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000331433.4	1	1	hg19	CCDS167.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1	1	0	0	19	282	0	60	0	4.529767e-03	0	2	0	60	2		0	0	0	0	0	2	1	9.999908e-01	19	278	0	59	2								-19.997080	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.650000	0.410000	0.900000	0.650000	0.665701	0.650000	0	5.200000e-01	8.000000e-01
CLCNKA	1187	broad.mit.edu	37	1	16353838	16353838	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16353838A>C	ENST00000331433.4	+	8	708	c.689A>C	c.(688-690)cAc>cCc	p.H230P	CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.H230P|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka			19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Niflumic Acid(DB04552)	ATGTCTTCCCACTTCTCTGTC	0.647000																								0							SO:0001583	missense			ENST00000331433.4	1	1	hg19	CCDS167.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578506	0.65878	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	3.02	3.02	0.34903	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	M	0.80183	2.485	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95756	0.8796	10	0.72032	D	0.01	.	10.7799	0.46371	1.0:0.0:0.0:0.0	.	187;230;230	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	P	230;230;187;230	ENSP00000364844:H230P;ENSP00000410353:H230P;ENSP00000414445:H187P;ENSP00000332771:H230P	ENSP00000332771:H230P	H	+	2	0	CLCNKA	16226425	0.807000	0.29009	1.000000	0.80357	0.974000	0.67602	1.689000	0.37700	1.368000	0.46115	0.260000	0.18958	CAC		TCGA-IB-7651-01A-11D-2154-08	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1	0	0	0	73	789	1	176	0	0	0	1	1	176	2		0	0	0	0	0	2	1	1	71	770	1	172	17								-17.630830	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.850000	0.690000	0.940000	0.900000	0.849759	0.850000	1	7.700000e-01	9.200000e-01
EPHA2	1969	broad.mit.edu	37	1	16456084	16456084	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2			42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Dasatinib(DB01254)|Regorafenib(DB08896)	GGATAGACACGCtgcaacagg	0.652000																								0							SO:0001630	splice_region_variant			ENST00000358432.5	0	1	hg19	CCDS169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	0	0	0	15	123	0	25	1	9.999951e-01	78	118	0	25	2		0	0	0	0	0	2	1	9.998378e-01	13	116	0	23	2								-19.998860	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.830000	0.570000	0.940000	0.930000	0.816209	0.830000	0	7.000000e-01	9.100000e-01
EPHA2	1969	broad.mit.edu	37	1	16460967	16460967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16460967G>A	ENST00000358432.5	-	8	1832	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2			42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Dasatinib(DB01254)|Regorafenib(DB08896)	ACGAACCTGCGGTGGATAAAG	0.607000																								0							SO:0001583	missense			ENST00000358432.5	1	1	hg19	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249744	0.59212	.	.	ENSG00000142627	ENST00000358432	T	0.13538	2.58	5.52	5.52	0.82312	.	0.167176	0.30118	N	0.010366	T	0.24470	0.0593	M	0.88241	2.94	0.54753	D	0.999983	D	0.56287	0.975	B	0.39876	0.312	T	0.31110	-0.9955	10	0.87932	D	0	.	15.0049	0.71504	0.0:0.0:1.0:0.0	.	560	P29317	EPHA2_HUMAN	C	560	ENSP00000351209:R560C	ENSP00000351209:R560C	R	-	1	0	EPHA2	16333554	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	1.174000	0.31932	2.604000	0.88044	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	1	32	135	0	42	1	1	45	135	0	42	2		0	0	0	0	0	2	1	1	32	133	0	42	2								-3.314797	1	0	121398	3	33	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.900000	0.780000	1.000000	0.930000	0.905577	0.900000	1	8.500000e-01	9.400000e-01
EPHA2	1969	broad.mit.edu	37	1	16461042	16461042	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16461042A>G	ENST00000358432.5	-	8	1757	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2			42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Dasatinib(DB01254)|Regorafenib(DB08896)	ATCACCGCCAAGTTGCCAGAT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000358432.5	1	1	hg19	CCDS169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	0	34	129	0	44	1	1	96	190	0	44	2		0	0	0	0	0	2	1	1	34	126	0	41	2								-20.000000	1	0	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.910000	0.800000	1.000000	0.930000	0.910569	0.910000	1	8.600000e-01	9.400000e-01
EPHA2	1969	broad.mit.edu	37	1	16464503	16464503	+	Missense_Mutation	SNP	G	G	A	rs141027815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464503G>A	ENST00000358432.5	-	5	1311	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2			42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Dasatinib(DB01254)|Regorafenib(DB08896)	AGGAGGCTCCGAGTAGCGCAC	0.647000																								0							SO:0001583	missense			ENST00000358432.5	1	1	hg19	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	5.047	0.194330	0.09599	2.27E-4	0.0	ENSG00000142627	ENST00000358432	T	0.58940	0.3	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.143571	0.32473	N	0.006045	T	0.46171	0.1379	L	0.37697	1.125	0.47441	D	0.999424	P;P	0.50819	0.939;0.699	B;B	0.39840	0.311;0.055	T	0.40136	-0.9579	10	0.20046	T	0.44	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	386;386	B5A968;P29317	.;EPHA2_HUMAN	L	386	ENSP00000351209:S386L	ENSP00000351209:S386L	S	-	2	0	EPHA2	16337090	0.985000	0.35326	0.959000	0.39883	0.015000	0.08874	2.177000	0.42509	2.488000	0.83962	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	1	28	131	0	35	1	1	69	122	0	35	2		0	0	0	0	0	2	1	1	28	129	0	34	2								-20.000000	1	0	121410	1	33	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.900000	0.760000	1.000000	0.930000	0.896451	0.900000	1	8.400000e-01	9.300000e-01
EPHA2	1969	broad.mit.edu	37	1	16464553	16464553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464553G>T	ENST00000358432.5	-	5	1261	c.1107C>A	c.(1105-1107)tgC>tgA	p.C369*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2			42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Dasatinib(DB01254)|Regorafenib(DB08896)	ACTCGGGCCAGCACTGTTCGC	0.677000																								0							SO:0001587	stop_gained			ENST00000358432.5	0	1	hg19	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	36	5.686181	0.96784	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.06	0.47325	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7751	0.51981	0.0878:0.0:0.9122:0.0	.	.	.	.	X	369	.	ENSP00000351209:C369X	C	-	3	2	EPHA2	16337140	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.165000	0.50778	1.239000	0.43787	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	1	33	137	0	28	1	1	45	102	0	28	2		0	0	0	0	0	2	1	1	33	137	0	27	2								-20.000000	1	0	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.900000	0.790000	1.000000	0.930000	0.907288	0.900000	1	8.600000e-01	9.400000e-01
EPHA2	1969	broad.mit.edu	37	1	16475444	16475444	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16475444G>T	ENST00000358432.5	-	3	406	c.252C>A	c.(250-252)aaC>aaA	p.N84K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2			42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Dasatinib(DB01254)|Regorafenib(DB08896)	GGTACACCCAGTTGGTGCGGA	0.542000																								0							SO:0001583	missense			ENST00000358432.5	1	1	hg19	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787196	0.70337	.	.	ENSG00000142627	ENST00000358432	T	0.03524	3.9	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000008	T	0.10723	0.0262	L	0.51422	1.61	0.50632	D	0.999885	D;D	0.76494	0.999;0.984	D;P	0.69479	0.964;0.698	T	0.14783	-1.0460	10	0.26408	T	0.33	.	10.0664	0.42306	0.0918:0.0:0.9082:0.0	.	84;84	B5A968;P29317	.;EPHA2_HUMAN	K	84	ENSP00000351209:N84K	ENSP00000351209:N84K	N	-	3	2	EPHA2	16348031	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.382000	0.52463	2.503000	0.84419	0.561000	0.74099	AAC		TCGA-IB-7651-01A-11D-2154-08	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	1	0	1	37	328	0	107	1	9.999984e-01	103	79	0	107	2		0	0	0	0	0	2	1	1	37	322	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.870000	0.690000	1.000000	0.930000	0.863611	0.870000	1	7.900000e-01	9.300000e-01
PBX1	5087	broad.mit.edu	37	1	164761883	164761883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164761883G>T	ENST00000420696.2	+	3	606	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	PBX1_ENST00000367897.1_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C|PBX1_ENST00000540246.1_Missense_Mutation_p.G35C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1		EWSR1/PBX1(3)	4					TGGAGGGGCAGGTTCAGACAA	0.602000			T	TCF3, EWSR1	pre B-ALL, myoepithelioma										Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		L, M	0							SO:0001583	missense			ENST00000420696.2	1	1	hg19	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460001	0.84317	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;D;D;D;D;D	0.89552	0.82;-2.43;-2.3;-2.44;-2.3;-2.53	5.23	5.23	0.72850	PBX (1);	0.048778	0.85682	D	0.000000	D	0.89476	0.6726	L	0.46157	1.445	0.09310	N	1.0	P;P;P;P;P	0.48089	0.783;0.633;0.905;0.755;0.865	P;P;P;P;P	0.55667	0.684;0.726;0.605;0.726;0.781	D	0.89976	0.4097	9	0.54805	T	0.06	-8.2112	18.3959	0.90497	0.0:0.0:1.0:0.0	.	35;140;140;140;140	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	C	140;140;140;140;140;35	ENSP00000341455:G140C;ENSP00000405890:G140C;ENSP00000356872:G140C;ENSP00000439943:G140C;ENSP00000384856:G140C;ENSP00000440869:G35C	ENSP00000341455:G140C	G	+	1	0	PBX1	163028507	1.000000	0.71417	0.823000	0.32752	0.934000	0.57294	4.592000	0.61027	2.405000	0.81733	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	1	0	0	86	210	0	42	0	9.889703e-01	1	19	0	42	2		0	0	0	0	1	2	1	1	85	205	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PBX1	5087	broad.mit.edu	37	1	164781364	164781364	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164781364G>A	ENST00000420696.2	+	6	1163	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PBX1_ENST00000367897.1_Silent_p.S325S|PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000401534.1_Silent_p.S325S|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Silent_p.S220S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1		EWSR1/PBX1(3)	4					AAGCTAACTCGCCCTCAACTC	0.443000			T	TCF3, EWSR1	pre B-ALL, myoepithelioma										Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		L, M	0							SO:0001819	synonymous_variant			ENST00000420696.2	1	1	hg19	CCDS1246.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	1	0	1	72	230	0	52	0	9.999955e-01	0	61	0	52	2		0	0	0	0	0	2	1	1	70	223	0	52	2								-4.558574	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PBX1	5087	broad.mit.edu	37	1	164789358	164789358	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164789358C>T	ENST00000420696.2	+	7	1235	c.1047C>T	c.(1045-1047)agC>agT	p.S349S	PBX1_ENST00000367897.1_Intron|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Silent_p.S244S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1		EWSR1/PBX1(3)	4					TGTTCATGAGCGTGCAGTCAC	0.483000			T	TCF3, EWSR1	pre B-ALL, myoepithelioma										Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		L, M	0							SO:0001819	synonymous_variant			ENST00000420696.2	1	1	hg19	CCDS1246.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	1	0	0	59	387	0	95	0	4.406922e-01	0	11	0	95	2		0	0	0	0	0	2	1	1	58	380	0	95	2								-19.999930	1	0	121412	3	33	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
LMX1A	4009	broad.mit.edu	37	1	165173188	165173188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165173188G>A	ENST00000342310.3	-	9	1460	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	LMX1A_ENST00000367893.4_Missense_Mutation_p.P360S|LMX1A_ENST00000294816.2_Missense_Mutation_p.P360S|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha			35	all_hematologic(923;0.248)				GACTGCAGAGGCCCAGCTTCT	0.517000																								0							SO:0001583	missense			ENST00000342310.3	0	1	hg19	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445320	0.04604	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.85484	-1.99;-1.99;-1.99	5.14	4.23	0.50019	.	0.226533	0.46758	D	0.000266	T	0.41236	0.1150	N	0.02539	-0.55	0.42593	D	0.993256	B	0.14438	0.01	B	0.09377	0.004	T	0.17258	-1.0375	9	0.13853	T	0.58	.	6.621	0.22802	0.1581:0.1485:0.6935:0.0	.	360	Q8TE12	LMX1A_HUMAN	S	360	ENSP00000340226:P360S;ENSP00000294816:P360S;ENSP00000356868:P360S	ENSP00000294816:P360S	P	-	1	0	LMX1A	163439812	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.203000	0.58453	1.392000	0.46585	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	0	0	0	13	510	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	9.994798e-01	13	500	0	107	2								-3.227160	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.320000	0.170000	0.520000	0.310000	0.338275	0.320000	0	2.400000e-01	4.200000e-01
LMX1A	4009	broad.mit.edu	37	1	165182966	165182966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165182966C>T	ENST00000342310.3	-	5	963	c.581G>A	c.(580-582)cGc>cAc	p.R194H	LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H|LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H|RP11-38C18.3_ENST00000441773.1_RNA|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'Flank	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha			35	all_hematologic(923;0.248)				ACGTTTGGGGCGCTTATGGTC	0.502000																								0							SO:0001583	missense			ENST00000342310.3	1	1	hg19	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551736	0.96501	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.95949	-3.86;-3.86;-3.86	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	L	0.52011	1.625	0.51482	D	0.999927	D	0.89917	1.0	D	0.87578	0.998	D	0.96037	0.9021	9	0.46703	T	0.11	.	19.3003	0.94141	0.0:1.0:0.0:0.0	.	194	Q8TE12	LMX1A_HUMAN	H	194	ENSP00000340226:R194H;ENSP00000294816:R194H;ENSP00000356868:R194H	ENSP00000294816:R194H	R	-	2	0	LMX1A	163449590	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.284000	0.78650	2.637000	0.89404	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	1	0	1	280	816	0	175		0	0	0	0	175	2		0	0	0	0	0	2	1	1	275	802	0	174	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF19	128272	broad.mit.edu	37	1	16531318	16531318	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16531318G>T	ENST00000270747.3	-	12	1979	c.1843C>A	c.(1843-1845)Ctg>Atg	p.L615M	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19			12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			TTGCTGGACAGCTTCAGCTTG	0.597000																								0							SO:0001583	missense			ENST00000270747.3	1	1	hg19	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.022609|2.022609	0.35701|0.35701	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000270747|ENST00000449495	T|.	0.71817|.	-0.6|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.112646|.	0.40144|.	N|.	0.001174|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.70935|.	0.971|.	T|T	0.52653|0.52653	-0.8547|-0.8547	10|5	0.38643|.	T|.	0.18|.	.|.	9.705|9.705	0.40209|0.40209	0.0:0.0:0.7929:0.2071|0.0:0.0:0.7929:0.2071	.|.	615|.	Q8IW93|.	ARHGJ_HUMAN|.	M|R	615|303	ENSP00000270747:L615M|.	ENSP00000270747:L615M|.	L|S	-|-	1|3	2|2	ARHGEF19|ARHGEF19	16403905|16403905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.105000|2.105000	0.41825|0.41825	2.272000|2.272000	0.75746|0.75746	0.561000|0.561000	0.74099|0.74099	CTG|AGC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	1	0	1	18	67	0	27	1	9.999838e-01	37	42	0	27	2		0	0	0	0	0	2	1	9.999909e-01	18	66	0	27	2								-20.000000	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.880000	0.710000	1.000000	0.930000	0.880045	0.880000	1	8.100000e-01	9.300000e-01
ARHGEF19	128272	broad.mit.edu	37	1	16532534	16532534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16532534C>T	ENST00000270747.3	-	8	1479	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19			12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			CACGCTGAAGCGCAGCACATC	0.642000																								0							SO:0001583	missense			ENST00000270747.3	0	1	hg19	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938587|1.938587	0.34189|0.34189	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000449495|ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785	.|T;T;T	.|0.29397	.|1.57;1.57;2.32	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.14657|0.14657	0.0354|0.0354	N|N	0.11560|0.11560	0.145|0.145	0.41567|0.41567	D|D	0.988663|0.988663	.|B	.|0.13594	.|0.008	.|B	.|0.13407	.|0.009	T|T	0.12656|0.12656	-1.0539|-1.0539	5|10	.|0.15499	.|T	.|0.54	.|.	8.8197|8.8197	0.35018|0.35018	0.0:0.8962:0.0:0.1038|0.0:0.8962:0.0:0.1038	.|.	.|448	.|Q8IW93	.|ARHGJ_HUMAN	T|H	137|448;448;448;131	.|ENSP00000270747:R448H;ENSP00000396001:R448H;ENSP00000414370:R131H	.|ENSP00000270747:R448H	A|R	-|-	1|2	0|0	ARHGEF19|ARHGEF19	16405121|16405121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	1.166000|1.166000	0.31834|0.31834	2.129000|2.129000	0.65627|0.65627	0.561000|0.561000	0.74099|0.74099	GCT|CGC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	1	0	0	12	37	0	9	1	9.994492e-01	18	30	0	9	2		0	0	0	0	0	2	1	9.995177e-01	12	37	0	8	2								-19.999980	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.870000	0.650000	1.000000	0.930000	0.858708	0.870000	1	7.700000e-01	9.300000e-01
ARHGEF19	128272	broad.mit.edu	37	1	16534248	16534248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16534248C>T	ENST00000270747.3	-	4	855	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19			12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			CTCTACACTTCGAGCCTCCAT	0.672000																								0							SO:0001583	missense			ENST00000270747.3	1	1	hg19	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028362	0.54790	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.71222	-0.55;1.85	4.84	2.95	0.34219	.	2.190520	0.02212	N	0.063299	T	0.61751	0.2372	L	0.47716	1.5	0.09310	N	1	P	0.38745	0.645	B	0.30251	0.113	T	0.48258	-0.9051	10	0.27082	T	0.32	.	7.6442	0.28311	0.0:0.7994:0.0:0.2006	.	240	Q8IW93	ARHGJ_HUMAN	Q	240	ENSP00000270747:R240Q;ENSP00000396001:R240Q	ENSP00000270747:R240Q	R	-	2	0	ARHGEF19	16406835	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	1.576000	0.36504	0.448000	0.26722	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	0	0	1	87	307	0	65	0	0	1	0	0	65	2		0	0	0	0	0	2	1	1	85	298	0	63	2								-3.862980	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.920000	0.880000	1.000000	0.930000	0.940729	0.920000	1	9.000000e-01	1
LRRC52	440699	broad.mit.edu	37	1	165513649	165513649	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165513649G>A	ENST00000294818.1	+	1	406	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52			18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				GAAGTAATCTGCACAGGGAAG	0.502000																								0							SO:0001583	missense			ENST00000294818.1	1	1	hg19	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995109	0.54041	.	.	ENSG00000162763	ENST00000294818	D	0.99985	-11.65	4.91	4.91	0.64330	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99988	0.9998	H	0.95043	3.615	0.34146	D	0.667017	D	0.89917	1.0	D	0.97110	1.0	D	0.99976	1.2192	9	0.87932	D	0	.	15.6557	0.77133	0.0:0.0:1.0:0.0	.	39	Q8N7C0	LRC52_HUMAN	Y	39	ENSP00000294818:C39Y	ENSP00000294818:C39Y	C	+	2	0	LRRC52	163780273	1.000000	0.71417	0.919000	0.36401	0.422000	0.31414	8.837000	0.92110	2.561000	0.86390	0.563000	0.77884	TGC		TCGA-IB-7651-01A-11D-2154-08	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	1	0	0	46	633	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	46	619	0	101	2								-9.792615	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.860000	0.640000	1.000000	1.000000	0.865131	0.860000	1	7.400000e-01	1
ALDH9A1	223	broad.mit.edu	37	1	165634286	165634286	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165634286C>A	ENST00000354775.4	-	10	1735	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	Y_RNA_ENST00000384263.1_RNA|ALDH9A1_ENST00000538148.1_Silent_p.V383V	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1			21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				AGGGCAACTCCACTGGGCTGA	0.458000													Ovarian(179;1583 2014 18106 33801 42447)											0							SO:0001819	synonymous_variant			ENST00000354775.4	1	1	hg19	CCDS1250.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1	1	0	1	42	270	0	47	1	1	57	277	0	47	2		0	0	0	0	0	2	1	1	41	266	0	47	2								-3.076424	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
TMCO1	54499	broad.mit.edu	37	1	165712439	165712439	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165712439A>C	ENST00000392129.6	-	6	583	c.433T>G	c.(433-435)Ttc>Gtc	p.F145V	TMCO1_ENST00000580248.1_Missense_Mutation_p.F61V|TMCO1_ENST00000367881.5_Missense_Mutation_p.F196V|TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1			9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)				ATATACAGGAAAATGAAGGAA	0.398000																								0							SO:0001583	missense			ENST00000392129.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	27.0	4.792056	0.90453	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.17	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.93594	3.435	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82989	-0.0183	8	0.51188	T	0.08	.	10.3335	0.43837	0.9235:0.0:0.0765:0.0	.	133;145	B7Z591;Q9UM00	.;TMCO1_HUMAN	V	145;126	.	ENSP00000356856:F145V	F	-	1	0	TMCO1	163979063	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.827000	0.92041	1.160000	0.42584	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	1	0	1	63	289	0	69	1	1	151	443	0	69	2		0	0	0	0	0	2	1	1	60	282	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMCO1	54499	broad.mit.edu	37	1	165737482	165737482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165737482C>A	ENST00000392129.6	-	2	245	c.95G>T	c.(94-96)aGg>aTg	p.R32M	RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000580248.1_De_novo_Start_InFrame|TMCO1_ENST00000367881.5_Missense_Mutation_p.R83M|TMCO1_ENST00000464650.1_De_novo_Start_InFrame	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1			9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)				CTTGTCTGTCCTGTAAACCAG	0.373000																								0							SO:0001583	missense			ENST00000392129.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	29.4	4.998946	0.93227	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.68	5.68	0.88126	.	0.045571	0.85682	D	0.000000	D	0.84479	0.5481	M	0.92507	3.315	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.87671	0.2541	8	0.87932	D	0	.	17.2927	0.87162	0.0:1.0:0.0:0.0	.	20;32	B7Z591;Q9UM00	.;TMCO1_HUMAN	M	32	.	ENSP00000356856:R32M	R	-	2	0	TMCO1	164004106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.314000	0.72848	2.683000	0.91414	0.561000	0.74099	AGG		TCGA-IB-7651-01A-11D-2154-08	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	1	0	0	24	307	0	38	1	1	69	1016	0	38	2		0	0	0	0	0	2	1	9.999997e-01	24	302	0	38	2								-2.716744	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.930000	0.610000	1.000000	1.000000	0.897866	0.930000	1	7.600000e-01	1
FBXO42	54455	broad.mit.edu	37	1	16579592	16579592	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16579592G>A	ENST00000375592.3	-	8	1136	c.920C>T	c.(919-921)gCt>gTt	p.A307V		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42			26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			AATACTCACAGCATTGGGACC	0.433000																								0							SO:0001630	splice_region_variant			ENST00000375592.3	1	0	hg19	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204529	0.79127	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.66280	-0.2;-0.16;-0.16	5.86	5.86	0.93980	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	L	0.50333	1.59	0.80722	D	1	B	0.27450	0.179	B	0.28638	0.092	T	0.53774	-0.8391	10	0.27785	T	0.31	-8.6863	19.1901	0.93663	0.0:0.0:1.0:0.0	.	307	Q6P3S6	FBX42_HUMAN	V	307;25;25	ENSP00000364742:A307V;ENSP00000415663:A25V;ENSP00000412416:A25V	ENSP00000364742:A307V	A	-	2	0	FBXO42	16452179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.176000	0.89686	2.776000	0.95493	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1	1	0	1	11	89	0	59	1	9.727093e-01	5	48	0	59	2		0	0	0	0	0	2	1	9.983001e-01	11	85	0	59	2								-17.508800	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.810000	0.510000	0.940000	0.930000	0.792873	0.810000	0	6.600000e-01	9.100000e-01
FAM78B	149297	broad.mit.edu	37	1	166039799	166039799	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039799G>A	ENST00000338353.3	-	3	1054	c.465C>T	c.(463-465)agC>agT	p.S155S	FAM78B_ENST00000354422.3_Silent_p.S155S			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B			19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)				GTGGCACATTGCTGTCACTCA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000338353.3	1	1	hg19	CCDS30931.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	1	0	1	179	754	0	139	0	9.176690e-01	0	20	0	139	2		0	0	0	0	0	2	1	1	175	749	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM78B	149297	broad.mit.edu	37	1	166039800	166039800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039800C>T	ENST00000338353.3	-	3	1053	c.464G>A	c.(463-465)aGc>aAc	p.S155N	FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B			19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)				TGGCACATTGCTGTCACTCAC	0.527000																								0							SO:0001583	missense			ENST00000338353.3	1	1	hg19	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808974	0.31961	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.84	4.93	0.64822	.	0.115191	0.85682	N	0.000000	T	0.33673	0.0871	L	0.59436	1.845	0.47183	D	0.999346	B	0.12013	0.005	B	0.08055	0.003	T	0.23726	-1.0180	8	0.16896	T	0.51	-15.4965	12.9119	0.58184	0.0:0.9216:0.0:0.0784	.	155	Q5VT40	FA78B_HUMAN	N	155	.	ENSP00000339681:S155N	S	-	2	0	FAM78B	164306424	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.999000	0.57031	1.472000	0.48140	-0.150000	0.13652	AGC		TCGA-IB-7651-01A-11D-2154-08	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	1	0	1	244	683	0	136	0	9.812253e-01	1	19	0	136	2		0	0	0	0	0	2	1	1	243	674	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM78B	149297	broad.mit.edu	37	1	166039940	166039940	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039940A>G	ENST00000338353.3	-	3	913	c.324T>C	c.(322-324)gaT>gaC	p.D108D	FAM78B_ENST00000354422.3_Silent_p.D108D			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B			19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)				AGCTCACCCCATCTGAGTCAC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000338353.3	1	1	hg19	CCDS30931.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	1	0	0	34	350	0	63	0	3.983090e-01	0	15	0	63	2		0	0	0	0	0	2	1	1	34	343	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.800000	1.000000	1.000000	0.979887	0.990000	1	9.500000e-01	1
FBXO42	54455	broad.mit.edu	37	1	16641844	16641844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16641844C>T	ENST00000375592.3	-	2	286	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42			26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			TCCATTGTCCCTTCCAGCACA	0.498000																								0							SO:0001583	missense			ENST00000375592.3	1	1	hg19	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088870	0.76756	.	.	ENSG00000037637	ENST00000375592	T	0.05025	3.51	5.81	5.81	0.92471	.	0.197049	0.45867	D	0.000332	T	0.15609	0.0376	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.66056	D	0.02	-15.7317	19.0543	0.93056	0.0:1.0:0.0:0.0	.	24	Q6P3S6	FBX42_HUMAN	R	24	ENSP00000364742:G24R	ENSP00000364742:G24R	G	-	1	0	FBXO42	16514431	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.622000	0.74233	2.739000	0.93911	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1	1	0	0	19	208	0	58	1	9.817640e-01	3	71	0	58	2		0	0	0	0	0	2	1	9.999912e-01	19	204	0	58	2								-2.879467	1	1	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.780000	0.520000	0.930000	0.860000	0.777909	0.780000	0	6.500000e-01	8.900000e-01
SLC35E2	9906	broad.mit.edu	37	1	1666219	1666219	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1666219A>G	ENST00000246421.4	-	5	1057	c.642T>C	c.(640-642)ggT>ggC	p.G214G	RP1-283E3.4_ENST00000417099.1_RNA|SLC35E2_ENST00000355439.2_Silent_p.G214G|SLC35E2_ENST00000400924.1_Silent_p.G214G|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_5'UTR	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2			9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			AAGCAGCAGCACCACGTCCTG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000246421.4	0	1	hg19	CCDS33.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	0	0	0	9	164	0	33	1	5.635053e-01	2	32	0	33	2		0	0	0	0	0	2	1	9.892106e-01	9	139	0	49	2								-12.498450	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.550000	0.270000	0.890000	0.530000	0.571915	0.550000	0	4.000000e-01	7.400000e-01
POGK	57645	broad.mit.edu	37	1	166818370	166818370	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166818370A>G	ENST00000367875.1	+	5	914	c.554A>G	c.(553-555)gAc>gGc	p.D185G	POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000536514.1_Missense_Mutation_p.D100G|POGK_ENST00000367876.4_Missense_Mutation_p.D185G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain			22					TCGGCTGATGACATAGCTGGG	0.572000													GBM(76;192 1530 30153 48742)											0							SO:0001583	missense			ENST00000367875.1	1	1	hg19	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342365	0.61073	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.37752	1.25;1.18;4.21;4.56;4.56	5.39	5.39	0.77823	.	0.128839	0.35040	N	0.003481	T	0.26521	0.0648	N	0.24115	0.695	0.31956	N	0.609032	D;D;D	0.71674	0.998;0.996;0.989	P;P;P	0.60886	0.88;0.762;0.762	T	0.08310	-1.0728	9	0.26408	T	0.33	-35.2945	11.7317	0.51741	1.0:0.0:0.0:0.0	.	67;100;185	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	G	67;100;185;185;185	ENSP00000442763:D67G;ENSP00000441187:D100G;ENSP00000404402:D185G;ENSP00000356850:D185G;ENSP00000356849:D185G	ENSP00000356849:D185G	D	+	2	0	POGK	165084994	0.903000	0.30736	0.095000	0.20976	0.917000	0.54804	3.892000	0.56235	2.263000	0.75096	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	1	0	1	66	268	0	52	1	1	24	122	0	52	2		0	0	0	0	0	2	1	1	64	263	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POGK	57645	broad.mit.edu	37	1	166819057	166819057	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166819057A>G	ENST00000367875.1	+	5	1601	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000536514.1_Missense_Mutation_p.Y329C|POGK_ENST00000367876.4_Missense_Mutation_p.Y414C			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain			22					TTACCACCGTACATCATTTTG	0.512000													GBM(76;192 1530 30153 48742)											0							SO:0001583	missense			ENST00000367875.1	1	1	hg19	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500626	0.26861	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.5	4.36	0.52297	.	0.000000	0.46145	D	0.000308	T	0.30947	0.0781	L	0.27053	0.805	0.40234	D	0.977881	P;D;D	0.65815	0.461;0.995;0.992	B;D;P	0.68039	0.343;0.955;0.75	T	0.21724	-1.0237	8	.	.	.	-29.3824	8.3146	0.32093	0.6828:0.0:0.0:0.3172	.	296;329;414	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	C	296;329;414;414	ENSP00000442763:Y296C;ENSP00000441187:Y329C;ENSP00000356850:Y414C;ENSP00000356849:Y414C	.	Y	+	2	0	POGK	165085681	0.999000	0.42202	0.879000	0.34478	0.341000	0.28922	2.486000	0.45259	1.079000	0.41038	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	1	0	1	38	232	0	53	1	9.999997e-01	38	108	0	53	2		0	0	0	0	0	2	1	1	38	228	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
TADA1	117143	broad.mit.edu	37	1	166839020	166839020	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166839020C>A	ENST00000367874.4	-	2	239	c.146G>T	c.(145-147)aGa>aTa	p.R49I		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1			11					TGTGAGAAGTCTATGAGCTTC	0.363000																								0							SO:0001583	missense			ENST00000367874.4	1	1	hg19	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936183	0.92458	.	.	ENSG00000152382	ENST00000367874	T	0.50813	0.73	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.49126	1.545	0.47737	D	0.999500	D;D	0.76494	0.992;0.999	D;D	0.74348	0.939;0.983	T	0.59380	-0.7465	9	0.72032	D	0.01	-12.1412	17.1185	0.86695	0.0:1.0:0.0:0.0	.	49;49	A8K4J9;Q96BN2	.;TADA1_HUMAN	I	49	ENSP00000356848:R49I	ENSP00000356848:R49I	R	-	2	0	TADA1	165105644	0.992000	0.36948	0.970000	0.41538	0.994000	0.84299	7.013000	0.76373	2.707000	0.92482	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	0	0	0	23	618	0	116	1	5.625831e-01	4	47	0	116	2		0	0	0	0	0	2	1	9.999992e-01	22	609	0	115	2								-3.668509	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.460000	0.290000	0.660000	0.450000	0.474027	0.460000	0	3.700000e-01	5.600000e-01
MAEL	84944	broad.mit.edu	37	1	166991023	166991023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166991023C>A	ENST00000367872.4	+	12	1480	c.1236C>A	c.(1234-1236)aaC>aaA	p.N412K	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.N381K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer			28					AATTCTCCAACTGTGACACTT	0.393000																								0							SO:0001583	missense			ENST00000367872.4	1	1	hg19	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208493	0.39003	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.42131	0.98;0.99	5.04	2.98	0.34508	.	0.554792	0.17543	N	0.170450	T	0.09686	0.0238	N	0.14661	0.345	0.25966	N	0.982561	B;B	0.17038	0.008;0.02	B;B	0.14023	0.007;0.01	T	0.12863	-1.0531	10	0.72032	D	0.01	.	4.6626	0.12650	0.2188:0.6689:0.0:0.1123	.	381;412	E9JVC3;Q96JY0	.;MAEL_HUMAN	K	412;381;134	ENSP00000356846:N412K;ENSP00000356844:N381K	ENSP00000356844:N381K	N	+	3	2	MAEL	165257647	0.053000	0.20554	0.952000	0.39060	0.996000	0.88848	0.045000	0.14013	1.306000	0.44926	0.655000	0.94253	AAC		TCGA-IB-7651-01A-11D-2154-08	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	1	0	1	85	474	0	90	1	7.230390e-01	3	13	0	90	2		0	0	0	0	0	2	1	1	84	467	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPA33	10223	broad.mit.edu	37	1	167023611	167023611	+	Missense_Mutation	SNP	C	C	A	rs146470813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167023611C>A	ENST00000367868.3	-	7	1263	c.920G>T	c.(919-921)aGg>aTg	p.R307M	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)			15					CCCAGTGCTCCTCTGCTCTTC	0.612000																								0							SO:0001583	missense			ENST00000367868.3	1	1	hg19	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505824	0.44558	.	.	ENSG00000143167	ENST00000367868	T	0.77877	-1.13	3.49	2.44	0.29823	.	0.451921	0.20846	N	0.084608	T	0.63558	0.2521	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.54944	-0.8217	10	0.48119	T	0.1	.	7.9319	0.29907	0.0:0.7445:0.2555:0.0	.	307	Q99795	GPA33_HUMAN	M	307	ENSP00000356842:R307M	ENSP00000356842:R307M	R	-	2	0	GPA33	165290235	0.000000	0.05858	0.013000	0.15412	0.070000	0.16714	-0.038000	0.12144	1.889000	0.54706	0.591000	0.81541	AGG		TCGA-IB-7651-01A-11D-2154-08	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	1	0	1	170	451	0	95	0	6.892268e-01	0	8	0	95	2		0	0	0	0	0	2	1	1	165	444	0	95	2								-8.584953	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35E2	9906	broad.mit.edu	37	1	1670364	1670364	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1670364A>G	ENST00000246421.4	-	3	870	c.455T>C	c.(454-456)aTg>aCg	p.M152T	SLC35E2_ENST00000355439.2_Missense_Mutation_p.M152T|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152T|RP1-283E3.8_ENST00000598846.1_RNA	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2			9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			TCTTTACCTCATCAGACCCAC	0.473000																								0							SO:0001583	missense			ENST00000246421.4	0	1	hg19	CCDS33.1	.	.	.	.	.	.	.	.	.	.	a	12.20	1.867997	0.32977	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	D;D;D	0.92348	-3.02;-3.02;-3.02	2.89	2.89	0.33648	Drug/metabolite transporter (1);	0.110770	0.64402	U	0.000017	D	0.92169	0.7517	L	0.45352	1.415	0.30531	N	0.767464	D;D	0.63046	0.992;0.98	D;P	0.64687	0.928;0.795	D	0.87896	0.2687	10	0.28530	T	0.3	.	10.2092	0.43131	1.0:0.0:0.0:0.0	.	152;152	P0CK97;P0CK97-2	S35E2_HUMAN;.	T	152	ENSP00000347614:M152T;ENSP00000383714:M152T;ENSP00000246421:M152T	ENSP00000246421:M152T	M	-	2	0	SLC35E2	1660224	1.000000	0.71417	0.975000	0.42487	0.373000	0.29922	8.889000	0.92470	1.312000	0.45043	0.433000	0.28618	ATG		TCGA-IB-7651-01A-11D-2154-08	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	0	0	0	10	75	0	18	0	4.668733e-02	0	3	0	18	2		0	0	0	0	0	2	1	9.848307e-01	7	51	0	31	2								-17.768960	1	1	120992	3	24	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.850000	0.530000	1.000000	0.990000	0.836134	0.850000	1	6.900000e-01	9.600000e-01
DUSP27	92235	broad.mit.edu	37	1	167088604	167088604	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167088604T>C	ENST00000361200.2	+	5	722	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)			89					GGAGATCCAGTACCTGGGTGT	0.567000																								0							SO:0001583	missense			ENST00000361200.2	1	1	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801391	0.90538	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.63913	-0.07;-0.07;-0.07	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.78775	-0.2072	10	0.87932	D	0	-24.5316	15.0182	0.71605	0.0:0.0:0.0:1.0	.	186	Q5VZP5	DUS27_HUMAN	H	186	ENSP00000354483:Y186H;ENSP00000271385:Y186H;ENSP00000404874:Y186H	ENSP00000271385:Y186H	Y	+	1	0	DUSP27	165355228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.936000	0.56123	0.482000	0.46254	TAC		TCGA-IB-7651-01A-11D-2154-08	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	1	28	268	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	1	28	256	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.830000	1.000000	1.000000	0.986683	0.990000	1	9.900000e-01	1
DUSP27	92235	broad.mit.edu	37	1	167096291	167096291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167096291G>A	ENST00000361200.2	+	6	2089	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.Q641Q|DUSP27_ENST00000271385.5_Silent_p.Q641Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)			89					AGGAGAGCCAGTCTATGGCAA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000361200.2	1	1	hg19	CCDS30932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	0	28	155	0	27	0	6.678987e-02	1	2	0	27	2		0	0	0	0	0	2	1	1	28	150	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
DUSP27	92235	broad.mit.edu	37	1	167097083	167097083	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097083G>T	ENST00000361200.2	+	6	2881	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)			89					GTAATTCCCAGAAACCTGAAA	0.493000																								0							SO:0001583	missense			ENST00000361200.2	1	1	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589602	0.13812	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.25	-5.41	0.02648	.	1.287870	0.05395	N	0.539668	T	0.00906	0.0030	L	0.36672	1.1	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.49570	-0.8926	10	0.41790	T	0.15	-6.6321	3.444	0.07474	0.1444:0.1986:0.4558:0.2012	.	905	Q5VZP5	DUS27_HUMAN	H	905	ENSP00000354483:Q905H;ENSP00000271385:Q905H;ENSP00000404874:Q905H	ENSP00000271385:Q905H	Q	+	3	2	DUSP27	165363707	0.001000	0.12720	0.965000	0.40720	0.765000	0.43378	-1.289000	0.02780	-0.532000	0.06332	-0.323000	0.08544	CAG		TCGA-IB-7651-01A-11D-2154-08	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	0	0	1	54	188	1	61	1	4.062555e-01	5	1	1	61	2		0	0	0	0	0	2	1	1	53	182	1	58	14								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP27	92235	broad.mit.edu	37	1	167097360	167097360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097360G>A	ENST00000361200.2	+	6	3158	c.2992G>A	c.(2992-2994)Ggc>Agc	p.G998S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S|DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)			89					CGAGGCAAATGGCAACTCTGT	0.517000																								0							SO:0001583	missense			ENST00000361200.2	1	1	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838723	0.16891	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.42	4.51	0.55191	.	0.123145	0.37136	N	0.002232	T	0.02012	0.0063	M	0.63428	1.95	0.09310	N	1	B	0.21905	0.062	B	0.20767	0.031	T	0.35251	-0.9796	10	0.51188	T	0.08	-31.6984	10.3833	0.44125	0.1494:0.0:0.8506:0.0	.	998	Q5VZP5	DUS27_HUMAN	S	998	ENSP00000354483:G998S;ENSP00000271385:G998S;ENSP00000404874:G998S	ENSP00000271385:G998S	G	+	1	0	DUSP27	165363984	0.996000	0.38824	0.089000	0.20774	0.416000	0.31233	3.441000	0.52893	1.284000	0.44531	0.643000	0.83706	GGC		TCGA-IB-7651-01A-11D-2154-08	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	0	0	1	61	379	0	90	0	1.480260e-01	0	5	0	90	2		0	0	0	0	0	2	1	1	61	371	0	90	2								-3.017969	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP27	92235	broad.mit.edu	37	1	167097700	167097700	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097700G>T	ENST00000361200.2	+	6	3498	c.3332G>T	c.(3331-3333)aGg>aTg	p.R1111M	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)			89					GAAGAAGGGAGGTTTGCATCT	0.512000																								0							SO:0001583	missense			ENST00000361200.2	1	1	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207181	0.58343	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.4	4.48	0.54585	.	0.000000	0.56097	D	0.000027	T	0.08537	0.0212	M	0.65975	2.015	0.35471	D	0.7973	D	0.76494	0.999	P	0.61328	0.887	T	0.01018	-1.1479	10	0.87932	D	0	-38.0246	14.5027	0.67732	0.0719:0.0:0.9281:0.0	.	1111	Q5VZP5	DUS27_HUMAN	M	1111	ENSP00000354483:R1111M;ENSP00000271385:R1111M;ENSP00000404874:R1111M	ENSP00000271385:R1111M	R	+	2	0	DUSP27	165364324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.698000	0.37794	2.532000	0.85374	0.549000	0.68633	AGG		TCGA-IB-7651-01A-11D-2154-08	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	1	27	181	0	43	1	2.904360e-01	2	6	0	43	2		0	0	0	0	0	2	1	1	26	175	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999690	0.990000	1	9.900000e-01	1
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097730G>A	ENST00000361200.2	+	6	3528	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)			89					TCCCAGTATCGGAGAAGCACT	0.512000																								0							SO:0001583	missense			ENST00000361200.2	1	1	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522319	0.27211	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04551	3.6;3.6;3.6	5.4	4.42	0.53409	.	0.339926	0.22015	N	0.065807	T	0.02970	0.0088	M	0.65975	2.015	0.31764	N	0.632927	D	0.53462	0.96	B	0.39876	0.312	T	0.25779	-1.0122	10	0.87932	D	0	-10.1831	10.9711	0.47441	0.1692:0.0:0.8308:0.0	.	1121	Q5VZP5	DUS27_HUMAN	Q	1121	ENSP00000354483:R1121Q;ENSP00000271385:R1121Q;ENSP00000404874:R1121Q	ENSP00000271385:R1121Q	R	+	2	0	DUSP27	165364354	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	4.046000	0.57376	1.133000	0.42147	0.549000	0.68633	CGG		TCGA-IB-7651-01A-11D-2154-08	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	1	0	1	32	192	0	49	0	2.155474e-01	1	5	0	49	2		0	0	0	0	0	2	1	1	29	184	0	49	2								-20.000000	1	0	121408	3	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
SPATA21	374955	broad.mit.edu	37	1	16731528	16731528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731528G>A	ENST00000335496.1	-	8	1227	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21			19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			CCCATTAGGAGCAGGATATTC	0.572000																								0							SO:0001583	missense			ENST00000335496.1	1	1	hg19	CCDS172.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825291	0.32237	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.78924	-1.22;-1.22	4.53	0.416	0.16416	EF-hand-like domain (1);	0.307870	0.23506	N	0.047446	T	0.71643	0.3364	L	0.52573	1.65	0.19300	N	0.999976	D;D	0.54601	0.967;0.966	P;P	0.52758	0.584;0.708	T	0.60964	-0.7158	10	0.16420	T	0.52	-6.8806	3.7645	0.08617	0.3108:0.185:0.5042:0.0	.	226;249	F5GXP5;Q7Z572	.;SPT21_HUMAN	F	249;226	ENSP00000335612:L249F;ENSP00000440046:L226F	ENSP00000335612:L249F	L	-	1	0	SPATA21	16604115	0.512000	0.26186	0.849000	0.33467	0.290000	0.27261	0.186000	0.16978	0.226000	0.20979	0.313000	0.20887	CTC		TCGA-IB-7651-01A-11D-2154-08	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	0	0	1	32	214	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	30	210	0	44	2								-20.000000	1	0	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.890000	0.730000	1.000000	0.930000	0.885560	0.890000	1	8.200000e-01	9.300000e-01
SPATA21	374955	broad.mit.edu	37	1	16731589	16731589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731589G>A	ENST00000335496.1	-	8	1166	c.684C>T	c.(682-684)agC>agT	p.S228S	SPATA21_ENST00000540400.1_Silent_p.S205S|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21			19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			TCTCAAAGTAGCTGCGGAAGG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000335496.1	1	1	hg19	CCDS172.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	1	0	1	34	251	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	31	243	0	49	2								-20.000000	1	0	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.880000	0.720000	1.000000	0.930000	0.880820	0.880000	1	8.100000e-01	9.300000e-01
POU2F1	5451	broad.mit.edu	37	1	167381303	167381303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167381303G>A	ENST00000541643.3	+	15	1756	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.A544T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1			30					TTCTGCCTCAGCCTCCACCTC	0.602000																								0							SO:0001583	missense			ENST00000541643.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.07	3.756711	0.69648	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86497	-2.13;-2.1;0.12;0.12;0.12;0.12;0.12	5.5	4.59	0.56863	.	1.244020	0.05323	N	0.527015	T	0.70422	0.3222	N	0.19112	0.55	0.34924	D	0.748716	B;B;B;B;B	0.21753	0.036;0.035;0.06;0.06;0.036	B;B;B;B;B	0.20184	0.008;0.013;0.019;0.028;0.008	T	0.46048	-0.9219	9	0.34782	T	0.22	.	14.5992	0.68427	0.0703:0.0:0.9297:0.0	.	492;532;544;530;532	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	T	555;492;530;532;532;544;440	ENSP00000356840:A555T;ENSP00000401217:A492T;ENSP00000356839:A530T;ENSP00000414660:A532T;ENSP00000441285:A532T;ENSP00000356836:A544T;ENSP00000415993:A440T	ENSP00000356836:A544T	A	+	1	0	POU2F1	165647927	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	3.738000	0.55067	1.453000	0.47775	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	50	273	0	56	1	7.892059e-01	4	14	0	56	2		0	0	0	0	0	2	1	1	48	256	0	56	2								-19.999980	1	1	121412	1	27	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CREG1	8804	broad.mit.edu	37	1	167517320	167517320	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167517320C>T	ENST00000370509.4	-	2	418	c.393G>A	c.(391-393)caG>caA	p.Q131Q	CREG1_ENST00000466652.1_5'Flank	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1								AGAAGTTGGTCTGTGCCAAAG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000370509.4	0	1	hg19	CCDS1262.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083911.1	0	0	0	8	451	0	81	1	9.949033e-01	12	531	0	81	2		0	0	0	0	0	2	1	9.890155e-01	8	446	0	81	2								-4.404694	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.230000	0.100000	0.420000	0.220000	0.247434	0.230000	0	1.600000e-01	3.200000e-01
RCSD1	92241	broad.mit.edu	37	1	167663376	167663376	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167663376C>T	ENST00000367854.3	+	5	642	c.311C>T	c.(310-312)gCc>gTc	p.A104V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A74V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1			24	all_hematologic(923;0.215)				CTGCCTGGGGCCTCACCCAAG	0.532000																								0							SO:0001583	missense			ENST00000367854.3	0	1	hg19	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856784	0.71834	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.59224	0.34;0.28	5.18	5.18	0.71444	.	0.292176	0.32175	N	0.006477	T	0.59609	0.2206	L	0.55103	1.725	0.31994	N	0.6041909999999999	D;D	0.89917	0.959;1.0	P;D	0.83275	0.631;0.996	T	0.60850	-0.7181	9	0.33940	T	0.23	-20.1062	9.9718	0.41759	0.0:0.7871:0.1383:0.0745	.	74;104	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	V	104;80;74	ENSP00000356828:A104V;ENSP00000439409:A74V	ENSP00000355291:A80V	A	+	2	0	RCSD1	165930000	0.989000	0.36119	0.996000	0.52242	0.771000	0.43674	1.979000	0.40608	2.572000	0.86782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	0	0	0	10	407	0	73	0	5.100172e-01	0	67	0	73	2		0	0	0	0	0	2	1	9.966874e-01	10	401	0	72	2								-3.370373	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.310000	0.160000	0.530000	0.300000	0.332499	0.310000	0	2.200000e-01	4.300000e-01
NECAP2	55707	broad.mit.edu	37	1	16770133	16770133	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16770133G>A	ENST00000337132.5	+	2	189	c.99G>A	c.(97-99)gcG>gcA	p.A33A	NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000406746.1_Silent_p.A33A|NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000443980.2_Silent_p.A33A	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2			9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			TTAGGGCTGCGGAGTGGCAGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000337132.5	0	1	hg19	CCDS173.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	1	0	1	12	79	0	16	1	9.999983e-01	15	187	0	16	2		0	0	0	0	0	2	1	9.985602e-01	10	71	0	14	2								-3.168124	1	1	119472	12	40	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.840000	0.570000	0.940000	0.930000	0.822085	0.840000	0	7.100000e-01	9.200000e-01
NECAP2	55707	broad.mit.edu	37	1	16775694	16775694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16775694G>A	ENST00000337132.5	+	5	577	c.487G>A	c.(487-489)Gca>Aca	p.A163T	NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T|NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T|NECAP2_ENST00000504551.2_Missense_Mutation_p.A102T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2			9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			GCTCAACATCGCAGTGAGTTC	0.532000																								0							SO:0001583	missense			ENST00000337132.5	1	1	hg19	CCDS173.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216824	0.95104	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.44482	0.92;1.51;0.92;0.92;0.92;0.92	5.84	5.84	0.93424	.	0.047689	0.85682	D	0.000000	T	0.56232	0.1971	L	0.56769	1.78	0.51482	D	0.999926	D;D;D	0.63880	0.987;0.993;0.989	P;P;P	0.55871	0.748;0.786;0.773	T	0.53279	-0.8461	10	0.48119	T	0.1	-16.4034	17.6382	0.88129	0.0:0.0:1.0:0.0	.	137;163;163	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	T	163;102;137;163;163;163;163	ENSP00000338746:A163T;ENSP00000424509:A102T;ENSP00000407091:A137T;ENSP00000383925:A163T;ENSP00000391942:A163T;ENSP00000427620:A163T	ENSP00000263498:A163T	A	+	1	0	NECAP2	16648281	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	9.042000	0.93793	2.760000	0.94817	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	1	0	1	18	55	0	16	1	1	51	203	0	16	2		0	0	0	0	0	2	1	9.999897e-01	16	54	0	16	2								-20.000000	1	1	121378	1	27	1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.890000	0.720000	1.000000	0.930000	0.884791	0.890000	1	8.200000e-01	9.300000e-01
ADCY10	55811	broad.mit.edu	37	1	167778989	167778989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167778989C>A	ENST00000367851.4	-	33	4943	c.4759G>T	c.(4759-4761)Ggc>Tgc	p.G1587C	ADCY10_ENST00000367848.1_Missense_Mutation_p.G1495C|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					TTTACCCTGCCTGCTACAATT	0.373000																								0							SO:0001583	missense			ENST00000367851.4	1	1	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251182	0.59212	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.35048	1.33;1.33;1.33	5.54	2.62	0.31277	.	0.354480	0.24542	N	0.037632	T	0.36853	0.0982	M	0.63428	1.95	0.36856	D	0.888131	D;D	0.71674	0.998;0.997	D;P	0.63192	0.912;0.819	T	0.36311	-0.9753	9	0.87932	D	0	-7.3277	8.1789	0.31298	0.0:0.7399:0.0:0.2601	.	1495;1587	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	C	1434;1587;1495	ENSP00000441992:G1434C;ENSP00000356825:G1587C;ENSP00000356822:G1495C	ENSP00000356822:G1495C	G	-	1	0	ADCY10	166045613	0.036000	0.19791	0.018000	0.16275	0.173000	0.22820	1.456000	0.35201	0.702000	0.31825	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	0	22	497	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	9.999985e-01	22	487	0	84	2								-3.290913	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.540000	0.350000	0.780000	0.540000	0.559956	0.540000	0	4.400000e-01	6.700000e-01
ADCY10	55811	broad.mit.edu	37	1	167793999	167793999	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793999A>T	ENST00000367851.4	-	27	4029	c.3845T>A	c.(3844-3846)aTc>aAc	p.I1282N	ADCY10_ENST00000367848.1_Missense_Mutation_p.I1190N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					GAGGTTGAAGATGTGCTCCAT	0.488000																								0							SO:0001583	missense			ENST00000367851.4	1	1	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812902	0.32053	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.31769	1.48;1.48;1.48	5.75	3.48	0.39840	.	0.620825	0.15231	N	0.273386	T	0.13670	0.0331	L	0.47716	1.5	0.28843	N	0.896489	P;P	0.48503	0.911;0.855	B;B	0.42422	0.387;0.216	T	0.07177	-1.0786	9	0.66056	D	0.02	-10.1174	6.5536	0.22448	0.8182:0.0:0.1818:0.0	.	1190;1282	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1129;183;1282;1190	ENSP00000441992:I1129N;ENSP00000356825:I1282N;ENSP00000356822:I1190N	ENSP00000271426:I183N	I	-	2	0	ADCY10	166060623	0.016000	0.18221	0.052000	0.19188	0.540000	0.34992	1.456000	0.35201	1.021000	0.39600	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	1	159	775	0	183		0	0	0	0	183	2		0	0	0	0	0	2	1	1	154	756	0	182	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY10	55811	broad.mit.edu	37	1	167802330	167802330	+	Missense_Mutation	SNP	C	C	T	rs143185037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167802330C>T	ENST00000367851.4	-	25	3672	c.3488G>A	c.(3487-3489)cGa>cAa	p.R1163Q	ADCY10_ENST00000367848.1_Missense_Mutation_p.R1071Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					AGGAAAGATTCGGTTGAGGAG	0.468000																								0							SO:0001583	missense			ENST00000367851.4	1	1	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.191030	0.58017	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.32988	1.43;1.44;1.44	5.48	2.62	0.31277	.	0.571110	0.15709	N	0.248496	T	0.12646	0.0307	M	0.74258	2.255	0.24101	N	0.995879	P;B	0.36249	0.545;0.41	B;B	0.22386	0.039;0.017	T	0.03898	-1.0994	9	0.44086	T	0.13	-1.6966	8.0859	0.30771	0.0:0.7467:0.0:0.2533	.	1071;1163	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	Q	1010;64;1163;1071	ENSP00000441992:R1010Q;ENSP00000356825:R1163Q;ENSP00000356822:R1071Q	ENSP00000271426:R64Q	R	-	2	0	ADCY10	166068954	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	0.296000	0.19083	0.393000	0.25203	-0.131000	0.14894	CGA		TCGA-IB-7651-01A-11D-2154-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	0	0	1	406	1176	1	273		0	0	0	1	273	2		0	0	0	0	0	2	1	1	395	1150	1	271	20								-20.000000	1	1	121412	363	60	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY10	55811	broad.mit.edu	37	1	167847775	167847775	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167847775C>A	ENST00000367851.4	-	12	1499	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	ADCY10_ENST00000367848.1_Missense_Mutation_p.A347S|ADCY10_ENST00000545172.1_Missense_Mutation_p.A286S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					AAAAAGTACGCTGGTAGGTTG	0.443000																								0							SO:0001583	missense			ENST00000367851.4	0	1	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319191	0.23994	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30714	1.52;1.55;1.52	5.38	-4.36	0.03645	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.664905	0.14561	N	0.312051	T	0.02688	0.0081	N	0.11201	0.11	0.29437	N	0.8594269999999999	B;B;B	0.14438	0.01;0.01;0.006	B;B;B	0.17979	0.02;0.006;0.003	T	0.39231	-0.9624	9	0.15066	T	0.55	-5.9662	0.2013	0.00145	0.2958:0.2374:0.2293:0.2376	.	286;347;439	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	S	286;439;347	ENSP00000441992:A286S;ENSP00000356825:A439S;ENSP00000356822:A347S	ENSP00000356822:A347S	A	-	1	0	ADCY10	166114399	0.325000	0.24660	0.978000	0.43139	0.881000	0.50899	-0.347000	0.07750	-0.424000	0.07382	-0.824000	0.03097	GCG		TCGA-IB-7651-01A-11D-2154-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	0	0	0	11	425	0	88		0	0	0	0	88	2		0	0	0	0	0	2	0	1.607694e-01	11	421	1	88	17								-10.318920	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.330000	0.170000	0.550000	0.330000	0.347110	0.330000	0	2.400000e-01	4.400000e-01
ADCY10	55811	broad.mit.edu	37	1	167863127	167863127	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167863127G>T	ENST00000367851.4	-	8	976	c.792C>A	c.(790-792)tcC>tcA	p.S264S	ADCY10_ENST00000367848.1_Silent_p.S172S|ADCY10_ENST00000545172.1_Silent_p.S111S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					ACTTTTGTAGGGACATCTCCA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000367851.4	1	1	hg19	CCDS1265.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	1	33	143	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	32	138	0	59	2								-3.165076	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY10	55811	broad.mit.edu	37	1	167874257	167874257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874257C>T	ENST00000367851.4	-	2	306	c.122G>A	c.(121-123)gGa>gAa	p.G41E	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					CATCAGGACTCCGTCAAAATA	0.453000																								0							SO:0001583	missense			ENST00000367851.4	1	1	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471987	0.84533	.	.	ENSG00000143199	ENST00000367851	T	0.39406	1.08	5.57	5.57	0.84162	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.64402	D	0.000010	T	0.57021	0.2025	M	0.73962	2.25	0.34549	D	0.711135	D	0.89917	1.0	D	0.97110	1.0	T	0.58797	-0.7573	9	0.46703	T	0.11	-18.9717	15.0548	0.71904	0.0:1.0:0.0:0.0	.	41	Q96PN6	ADCYA_HUMAN	E	41	ENSP00000356825:G41E	ENSP00000356825:G41E	G	-	2	0	ADCY10	166140881	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	4.168000	0.58216	2.606000	0.88127	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	1	93	320	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	93	314	0	84	2								-4.094919	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY10	55811	broad.mit.edu	37	1	167874374	167874374	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874374T>G	ENST00000367851.4	-	2	189	c.5A>C	c.(4-6)aAc>aCc	p.N2T	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					TTTTGGAGTGTTCATGTTCAA	0.393000																								0							SO:0001583	missense			ENST00000367851.4	1	1	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788041	0.31593	.	.	ENSG00000143199	ENST00000367851	T	0.31769	1.48	5.05	-7.17	0.01511	.	0.665201	0.14367	N	0.324022	T	0.10637	0.0260	L	0.51422	1.61	0.23524	N	0.997491	B	0.31680	0.335	B	0.22386	0.039	T	0.00448	-1.1733	9	0.59425	D	0.04	-2.7767	16.0264	0.80548	0.0:0.7894:0.0:0.2106	.	2	Q96PN6	ADCYA_HUMAN	T	2	ENSP00000356825:N2T	ENSP00000356825:N2T	N	-	2	0	ADCY10	166140998	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.813000	0.01725	-1.422000	0.02004	-0.408000	0.06270	AAC		TCGA-IB-7651-01A-11D-2154-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	1	118	412	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	114	405	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF6	55827	broad.mit.edu	37	1	167944232	167944232	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167944232T>C	ENST00000312263.6	+	4	621	c.417T>C	c.(415-417)tgT>tgC	p.C139C	DCAF6_ENST00000367843.3_Silent_p.C139C|DCAF6_ENST00000432587.2_Silent_p.C108C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367840.3_Silent_p.C139C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6			36					AATTTACGTGTCATTATGGAA	0.313000																								0							SO:0001819	synonymous_variant			ENST00000312263.6	1	1	hg19	CCDS30933.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	1	0	0	40	409	0	78	1	9.991530e-01	9	101	0	78	2		0	0	0	0	0	2	1	1	39	402	0	77	2								-12.329450	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.830000	1.000000	1.000000	0.984227	0.990000	1	9.700000e-01	1
TIPRL	261726	broad.mit.edu	37	1	168153250	168153250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168153250C>T	ENST00000367833.2	+	2	360	c.215C>T	c.(214-216)gCg>gTg	p.A72V	TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	p.A72V(1)		6	all_hematologic(923;0.215)				GCTACAGATGCGTTAAGATGT	0.413000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367833.2	1	1	hg19	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052861	0.93793	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.92459	3.31	0.44207	D	0.997032	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.87080	0.2165	8	0.54805	T	0.06	-24.9428	16.2331	0.82357	0.0:0.8666:0.1334:0.0	.	72;72	O75663;O75663-2	TIPRL_HUMAN;.	V	72	.	ENSP00000356804:A72V	A	+	2	0	TIPRL	166419874	1.000000	0.71417	0.873000	0.34254	0.964000	0.63967	7.380000	0.79704	1.369000	0.46134	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	1	0	1	72	325	1	76	1	9.999922e-01	42	122	1	76	9		0	0	0	0	0	2	1	1	72	321	1	76	17								-20.000000	1	1	121412	1	29	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFT2D2	375035	broad.mit.edu	37	1	168205957	168205957	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168205957A>G	ENST00000271375.4	+	6	434	c.362A>G	c.(361-363)aAc>aGc	p.N121S	SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A	NM_199344.2	NP_955376.1			SFT2 domain containing 2			4	all_hematologic(923;0.215)				CAGTGGCATAACAAGGGACTT	0.368000																								0							SO:0001583	missense			ENST00000271375.4	1	1	hg19	CCDS1271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.30|16.30	3.083832|3.083832	0.55861|0.55861	.|.	.|.	ENSG00000213064|ENSG00000213064	ENST00000271375|ENST00000367829;ENST00000367825	T|.	0.35789|.	1.29|.	5.18|5.18	4.04|4.04	0.47022|0.47022	.|.	0.168207|.	0.49916|.	U|.	0.000130|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.16166|0.16166	0.38|0.38	0.09310|.	N|.	0.999993|.	B|.	0.13594|.	0.008|.	B|.	0.18871|.	0.023|.	T|T	0.08638|0.08638	-1.0712|-1.0712	9|5	0.02654|0.56958	T|D	1|0.05	-8.6714|-8.6714	9.2735|9.2735	0.37686|0.37686	0.8392:0.0:0.0:0.1608|0.8392:0.0:0.0:0.1608	.|.	121|.	O95562|.	SFT2B_HUMAN|.	S|A	121|94	ENSP00000271375:N121S|.	ENSP00000271375:N121S|ENSP00000356799:T94A	N|T	+|+	2|1	0|0	SFT2D2|SFT2D2	166472581|166472581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.508000|5.508000	0.67006|0.67006	0.790000|0.790000	0.33803|0.33803	0.528000|0.528000	0.53228|0.53228	AAC|ACA		TCGA-IB-7651-01A-11D-2154-08	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	1	0	0	96	1193	0	184	1	7.970848e-01	2	37	0	184	2		0	0	0	0	0	2	1	1	94	1166	0	183	2								-17.964020	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.940000	0.770000	1.000000	1.000000	0.936452	0.940000	1	8.500000e-01	1
SFT2D2	375035	broad.mit.edu	37	1	168211761	168211761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168211761G>A	ENST00000271375.4	+	8	538	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1			SFT2 domain containing 2			4	all_hematologic(923;0.215)				GAAGTGTTTTGCCGTGTGTCT	0.458000																								0							SO:0001583	missense			ENST00000271375.4	1	1	hg19	CCDS1271.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093188	0.20471	.	.	ENSG00000213064	ENST00000271375	T	0.42131	0.98	4.97	-3.81	0.04294	.	0.154571	0.43747	U	0.000539	T	0.03477	0.0100	N	0.01297	-0.9	0.29400	N	0.8620140000000001	B	0.02656	0.0	B	0.09377	0.004	T	0.36529	-0.9744	9	0.19590	T	0.45	-18.5149	7.1524	0.25618	0.6044:0.0:0.2632:0.1324	.	156	O95562	SFT2B_HUMAN	T	156	ENSP00000271375:A156T	ENSP00000271375:A156T	A	+	1	0	SFT2D2	166478385	0.000000	0.05858	0.004000	0.12327	0.608000	0.37181	-0.525000	0.06214	-0.719000	0.04942	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	1	0	1	147	741	0	123	1	9.999410e-01	15	56	0	123	2		0	0	0	0	0	2	1	1	145	732	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBX19	9095	broad.mit.edu	37	1	168260462	168260462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168260462C>T	ENST00000367821.3	+	2	319	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19			34	all_hematologic(923;0.215)				GTACTCCCTCCTGCTGGACTT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000367821.3	1	1	hg19	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	9.205	1.029415	0.19512	.	.	ENSG00000143178	ENST00000431969	.	.	.	4.99	4.08	0.47627	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.53041	-0.8494	3	.	.	.	.	13.3921	0.60830	0.0:0.9236:0.0:0.0764	.	.	.	.	L	22	.	.	P	+	2	0	TBX19	166527086	0.989000	0.36119	0.991000	0.47740	0.999000	0.98932	1.767000	0.38501	1.341000	0.45600	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	1	0	0	237	722	0	167	0	6.140072e-02	0	2	0	167	2		0	0	0	0	0	2	1	1	236	712	0	166	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPT	1805	broad.mit.edu	37	1	168665811	168665811	+	Silent	SNP	G	G	A	rs12060879	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168665811G>A	ENST00000367817.3	-	4	671	c.582C>T	c.(580-582)taC>taT	p.Y194Y		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin			12	all_hematologic(923;0.208)				ATTCACAGTCGTATTCAGTCA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000367817.3	1	0	hg19	CCDS1275.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	0	0	1	51	145	0	50	0	9.084509e-01	0	14	0	50	2		0	0	0	0	0	2	1	1	50	144	0	49	2								-1.807761	0	1	121406	1080	61	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBPF1	55672	broad.mit.edu	37	1	16892237	16892237	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16892237A>G	ENST00000430580.2	-	27	3842	c.2955T>C	c.(2953-2955)tgT>tgC	p.C985C		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1								GAGTTGAATAACATCTATCCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000430580.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	0	0	0	62	4015	0	1128	0	1.272808e-01	0	40	0	1128	2		0	0	0	0	0	2	0	4.758169e-01	1	103	1	1727	2								-20.000000	1	0	0	0		1	0	0	0	1.821110	1	0.170000	2.060000	8.781185e-02	0.150000	0.120000	0.200000	0.160000	0.164919	0.150000	0	1.300000e-01	1.800000e-01
SLC19A2	10560	broad.mit.edu	37	1	169446393	169446393	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169446393C>T	ENST00000236137.5	-	2	1043	c.807G>A	c.(805-807)ccG>ccA	p.P269P	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2			11	all_hematologic(923;0.208)			Thiamine(DB00152)	CTGAGCTTACCGGTTCCTCCA	0.468000																								0							SO:0001630	splice_region_variant			ENST00000236137.5	0	1	hg19	CCDS1280.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	0	0	0	23	713	0	105	0	5.748701e-01	0	60	0	105	2		0	0	0	0	0	2	1	9.999992e-01	23	705	0	105	2								-2.469108	0	1	121410	2	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.400000	0.250000	0.580000	0.390000	0.413277	0.400000	0	3.200000e-01	4.900000e-01
F5	2153	broad.mit.edu	37	1	169511289	169511289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169511289C>T	ENST00000367797.3	-	13	3240	c.3039G>A	c.(3037-3039)caG>caA	p.Q1013Q	F5_ENST00000367796.3_Silent_p.Q1018Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)			128	all_hematologic(923;0.208)			ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCCTCCATCCTGTCTTACTT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000367797.3	1	1	hg19	CCDS1281.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	1	0	1	324	1043	0	193	1	7.253789e-01	2	8	0	193	2		0	0	0	0	0	2	1	1	322	1028	0	193	2								-20.000000	1	1	121412	3	40	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
F5	2153	broad.mit.edu	37	1	169524465	169524465	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524465T>G	ENST00000367797.3	-	7	1274	c.1073A>C	c.(1072-1074)gAa>gCa	p.E358A	F5_ENST00000367796.3_Missense_Mutation_p.E358A|F5_ENST00000546081.1_Missense_Mutation_p.E221A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)			128	all_hematologic(923;0.208)			ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCAAATGACTTCCTCTGCAGC	0.448000																								0							SO:0001583	missense			ENST00000367797.3	1	1	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752544	0.89753	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99186	-5.53;-5.53;-5.53	5.6	5.6	0.85130	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.91459	3.21	0.41728	D	0.989546	D	0.89917	1.0	D	0.74674	0.984	D	0.98686	1.0694	9	0.87932	D	0	-24.1444	15.8288	0.78736	0.0:0.0:0.0:1.0	.	358	P12259	FA5_HUMAN	A	358;358;221	ENSP00000356771:E358A;ENSP00000356770:E358A;ENSP00000439664:E221A	ENSP00000356770:E358A	E	-	2	0	F5	167791089	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.238000	0.78173	2.144000	0.66660	0.524000	0.50904	GAA		TCGA-IB-7651-01A-11D-2154-08	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	1	0	1	120	559	0	109	0	8.390517e-02	0	3	0	109	2		0	0	0	0	0	2	1	1	118	548	0	108	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
F5	2153	broad.mit.edu	37	1	169524540	169524540	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524540G>T	ENST00000367797.3	-	7	1199	c.998C>A	c.(997-999)aCc>aAc	p.T333N	F5_ENST00000367796.3_Missense_Mutation_p.T333N|F5_ENST00000546081.1_Missense_Mutation_p.T196N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)			128	all_hematologic(923;0.208)			ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAGATTCCTGGTTTTCTTTGG	0.413000																								0							SO:0001583	missense			ENST00000367797.3	1	1	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295812	0.40594	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98849	-5.18;-5.18;-5.18	5.69	5.69	0.88448	Cupredoxin (1);	0.496516	0.23023	N	0.052831	D	0.97309	0.9120	L	0.28274	0.84	0.30198	N	0.798902	D	0.89917	1.0	D	0.69307	0.963	D	0.96481	0.9356	9	0.36615	T	0.2	-20.7416	10.324	0.43783	0.1456:0.0:0.8544:0.0	.	333	P12259	FA5_HUMAN	N	333;333;196	ENSP00000356771:T333N;ENSP00000356770:T333N;ENSP00000439664:T196N	ENSP00000356770:T333N	T	-	2	0	F5	167791164	0.993000	0.37304	0.969000	0.41365	0.836000	0.47400	2.382000	0.44345	2.701000	0.92244	0.644000	0.83932	ACC		TCGA-IB-7651-01A-11D-2154-08	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	1	0	1	106	281	0	66	1	7.512281e-01	5	4	0	66	2		0	0	0	0	0	2	1	1	105	277	0	65	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SELP	6403	broad.mit.edu	37	1	169578832	169578832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169578832G>A	ENST00000263686.6	-	8	1280	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)			60	all_hematologic(923;0.208)			Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCAGCACAGCGGAAGCTACAG	0.517000																								0							SO:0001583	missense			ENST00000263686.6	1	1	hg19	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276591|2.276591	0.40294|0.40294	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.74|5.74	3.86|3.86	0.44501|0.44501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.827990	.|0.02349	.|N	.|0.075696	T|T	0.71230|0.71230	0.3315|0.3315	M|M	0.83774|0.83774	2.66|2.66	0.44500|0.44500	D|D	0.997442|0.997442	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|D;P;P	.|0.63192	.|0.912;0.901;0.799	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.44086	.|T	.|0.13	-0.2348|-0.2348	8.3896|8.3896	0.32520|0.32520	0.0784:0.0:0.7683:0.1533|0.0784:0.0:0.7683:0.1533	.|.	.|415;415;415	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	L|C	352|415;414;353;415;415;353;353;353;353;353;338	.|ENSP00000263686:R415C;ENSP00000356767:R353C;ENSP00000356768:R353C;ENSP00000356766:R353C;ENSP00000356762:R353C;ENSP00000356760:R353C	.|ENSP00000263686:R415C	P|R	-|-	2|1	0|0	SELP|SELP	167845456|167845456	0.000000|0.000000	0.05858|0.05858	0.543000|0.543000	0.28128|0.28128	0.023000|0.023000	0.10783|0.10783	-0.246000|-0.246000	0.08878|0.08878	0.764000|0.764000	0.33197|0.33197	0.650000|0.650000	0.86243|0.86243	CCG|CGC		TCGA-IB-7651-01A-11D-2154-08	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	1	0	1	46	245	0	70	0	6.756984e-01	0	14	0	70	2		0	0	0	0	0	2	1	1	45	244	0	69	2								-2.823727	1	1	121404	24	44	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SELP	6403	broad.mit.edu	37	1	169588378	169588378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169588378G>A	ENST00000263686.6	-	2	120	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SELP_ENST00000367791.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V|SELP_ENST00000367792.2_Missense_Mutation_p.A28V|SELP_ENST00000458599.2_Missense_Mutation_p.A28V|SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000367794.2_Missense_Mutation_p.A28V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)			60	all_hematologic(923;0.208)			Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AGAGATCAGGGCACTGAAGCA	0.418000																								0							SO:0001583	missense			ENST00000263686.6	0	1	hg19	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	7.562	0.664991	0.14710	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.25912	2.27;2.09;1.81;1.77;1.98;2.09;1.81	4.73	-1.6	0.08426	.	0.585628	0.15169	N	0.276744	T	0.05364	0.0142	L	0.37561	1.115	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.11329	0.006;0.006	T	0.43861	-0.9365	10	0.17369	T	0.5	-2.8872	8.7545	0.34637	0.486:0.0:0.514:0.0	.	28;28	Q6NUL9;P16109	.;LYAM3_HUMAN	V	28;28;27;28;28;28;28;28;28;28;28;28;13	ENSP00000263686:A28V;ENSP00000356767:A28V;ENSP00000356768:A28V;ENSP00000356766:A28V;ENSP00000356765:A28V;ENSP00000356762:A28V;ENSP00000356760:A28V	ENSP00000263686:A28V	A	-	2	0	SELP	167855002	0.000000	0.05858	0.005000	0.12908	0.896000	0.52359	-1.463000	0.02361	-0.404000	0.07610	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	0	0	0	25	165	1	41	0	3.989410e-01	0	10	1	41	2		0	0	0	0	0	2	1	9.606561e-01	24	162	1	41	15								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999642	0.990000	1	9.900000e-01	1
SELE	6401	broad.mit.edu	37	1	169695051	169695051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695051G>A	ENST00000333360.7	-	12	1911	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V	SELE_ENST00000367780.4_Missense_Mutation_p.A466V|SELE_ENST00000367776.1_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367774.1_Missense_Mutation_p.A465V|SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E			32	all_hematologic(923;0.208)			Carvedilol(DB01136)	AACTTACCTGGCAGGAACAAA	0.328000																								0							SO:0001583	missense			ENST00000333360.7	0	1	hg19	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226299	0.39300	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21734	2.06;1.99;2.23;2.01;2.07;1.99;2.23;2.06;2.01	4.9	3.96	0.45880	.	0.482787	0.15520	N	0.258107	T	0.08714	0.0216	M	0.68952	2.095	0.22684	N	0.998856	P	0.45126	0.851	B	0.33339	0.162	T	0.08229	-1.0732	10	0.41790	T	0.15	.	10.6767	0.45789	0.0:0.0:0.8087:0.1913	.	591	P16581	LYAM2_HUMAN	V	528;528;466;465;591;528;466;528;465	ENSP00000356755:A528V;ENSP00000356756:A528V;ENSP00000356754:A466V;ENSP00000356753:A465V;ENSP00000331736:A591V;ENSP00000356751:A528V;ENSP00000356749:A466V;ENSP00000356750:A528V;ENSP00000356748:A465V	ENSP00000331736:A591V	A	-	2	0	SELE	167961675	0.947000	0.32204	0.880000	0.34516	0.545000	0.35147	2.955000	0.49121	1.152000	0.42452	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	0	0	1	42	264	1	57	0	1.987980e-02	0	2	1	57	2		0	0	0	0	0	2	1	9.942918e-01	42	257	2	57	23								-19.140590	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
SELE	6401	broad.mit.edu	37	1	169695060	169695060	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695060A>C	ENST00000333360.7	-	12	1902	c.1763T>G	c.(1762-1764)tTt>tGt	p.F588C	SELE_ENST00000367780.4_Missense_Mutation_p.F463C|SELE_ENST00000367776.1_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367774.1_Missense_Mutation_p.F462C|SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E			32	all_hematologic(923;0.208)			Carvedilol(DB01136)	GGCAGGAACAAATTTCTTTGC	0.323000																								0							SO:0001583	missense			ENST00000333360.7	1	1	hg19	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795961	0.50208	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21031	2.1;2.03;2.24;2.04;2.07;2.03;2.24;2.1;2.04	5.08	5.08	0.68730	.	0.206931	0.24539	N	0.037653	T	0.31857	0.0810	M	0.72894	2.215	0.35693	D	0.814992	D	0.76494	0.999	D	0.65573	0.936	T	0.25047	-1.0143	10	0.66056	D	0.02	-27.9936	11.5612	0.50778	1.0:0.0:0.0:0.0	.	588	P16581	LYAM2_HUMAN	C	525;525;463;462;588;525;463;525;462	ENSP00000356755:F525C;ENSP00000356756:F525C;ENSP00000356754:F463C;ENSP00000356753:F462C;ENSP00000331736:F588C;ENSP00000356751:F525C;ENSP00000356749:F463C;ENSP00000356750:F525C;ENSP00000356748:F462C	ENSP00000331736:F588C	F	-	2	0	SELE	167961684	1.000000	0.71417	0.986000	0.45419	0.487000	0.33371	5.264000	0.65513	2.050000	0.60909	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	0	0	0	8	296	0	57	0	9.580379e-04	0	2	0	57	2		0	0	0	0	0	2	1	9.887356e-01	8	290	0	57	2								-9.049461	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.350000	0.160000	0.620000	0.330000	0.371419	0.350000	0	2.400000e-01	4.900000e-01
C1orf112	55732	broad.mit.edu	37	1	169821053	169821053	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169821053A>G	ENST00000286031.6	+	23	3040	c.2340A>G	c.(2338-2340)gaA>gaG	p.E780E	C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000359326.4_Silent_p.E780E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112			34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				TGACTGTAGAAGAAGCAAAGA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000286031.6	1	1	hg19	CCDS1285.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	1	0	0	9	202	0	44	0	4.337183e-01	0	32	0	44	2		0	0	0	0	0	2	1	9.937439e-01	9	196	0	44	2								-11.398410	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.560000	0.280000	0.960000	1.000000	0.587761	0.560000	0	4.000000e-01	7.600000e-01
SCYL3	57147	broad.mit.edu	37	1	169847944	169847944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169847944C>T	ENST00000367770.1	-	2	229	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Missense_Mutation_p.R61H|SCYL3_ENST00000367772.4_Missense_Mutation_p.R61H			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)			27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				GCAAGGGTGACGAAGTGTCTT	0.408000																								0							SO:0001583	missense			ENST00000367770.1	1	1	hg19	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170462	0.94768	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90729	0.4641	9	.	.	.	-15.4784	19.0922	0.93231	0.0:1.0:0.0:0.0	.	61;61	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	H	61	ENSP00000356746:R61H;ENSP00000356745:R61H;ENSP00000356744:R61H;ENSP00000407993:R61H	.	R	-	2	0	SCYL3	168114568	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.338000	0.79269	2.668000	0.90789	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	1	0	0	42	585	0	104	1	8.214496e-01	6	40	0	104	2		0	0	0	0	0	2	1	1	42	569	0	103	2								-9.122649	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.850000	0.620000	1.000000	1.000000	0.856688	0.850000	1	7.300000e-01	9.900000e-01
KIFAP3	22920	broad.mit.edu	37	1	169890879	169890879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169890879G>A	ENST00000361580.2	-	20	2544	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R733C	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3			35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				GTGGCAGGGCGTCCAAGAATG	0.413000																								0							SO:0001583	missense			ENST00000361580.2	1	1	hg19	CCDS1288.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.2	4.609773	0.87258	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.51817	0.73;0.73;0.73;0.71;0.69	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	T	0.03840	-1.0999	9	.	.	.	-6.5391	17.8515	0.88748	0.0:0.0:1.0:0.0	.	773	Q92845	KIFA3_HUMAN	C	773;733;729;475;695	ENSP00000354560:R773C;ENSP00000356739:R733C;ENSP00000356741:R729C;ENSP00000442712:R475C;ENSP00000444622:R695C	.	R	-	1	0	KIFAP3	168157503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.816000	0.75247	2.736000	0.93811	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	1	0	1	29	171	0	47	1	9.999942e-01	23	94	0	47	2		0	0	0	0	0	2	1	1	28	169	0	47	2								-15.503950	1	1	121410	25	44	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
KIFAP3	22920	broad.mit.edu	37	1	169941689	169941689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169941689G>A	ENST00000361580.2	-	17	2175	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.R610*	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3			35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				CAGACCTTTCGGATTTCATTA	0.313000																								0							SO:0001587	stop_gained			ENST00000361580.2	0	1	hg19	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	40	8.162878	0.98683	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.22	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5189	13.7898	0.63133	0.0:0.0:0.599:0.401	.	.	.	.	X	650;610;606;352;572	.	.	R	-	1	2	KIFAP3	168208313	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.632000	0.46511	0.212000	0.20703	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	1	0	1	6	50	0	27	0	9.870996e-01	1	72	0	27	2		0	0	0	0	0	2	1	9.678378e-01	6	50	0	27	2								-3.162739	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.600000	1.000000	1.000000	0.962095	0.990000	1	9.400000e-01	1
KIFAP3	22920	broad.mit.edu	37	1	169951979	169951979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169951979G>A	ENST00000361580.2	-	14	1763	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000538366.1_Silent_p.I434I|KIFAP3_ENST00000367765.1_Silent_p.I472I	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3			35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				CATCATTAGAGATCTGGGCTG	0.313000																								0							SO:0001819	synonymous_variant			ENST00000361580.2	1	1	hg19	CCDS1288.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	1	0	0	20	223	0	56	0	9.964147e-01	0	103	0	56	2		0	0	0	0	0	2	1	9.999949e-01	19	217	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.670000	1.000000	1.000000	0.946648	0.990000	1	8.500000e-01	1
FMO3	2328	broad.mit.edu	37	1	171083225	171083225	+	Silent	SNP	C	C	T	rs2066536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171083225C>T	ENST00000367755.4	+	7	1017	c.906C>T	c.(904-906)aaC>aaT	p.N302N	FMO3_ENST00000392085.2_Silent_p.N302N|FMO3_ENST00000542847.1_Silent_p.N282N|FMO3_ENST00000538429.1_Silent_p.N239N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3			31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)			Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TAAAGCCTAACGTGAAGGAAT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000367755.4	1	1	hg19	CCDS1292.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	1	0	1	94	265	0	60	0	1	0	179	0	60	2		0	0	0	0	0	2	1	1	91	261	0	59	2								-3.222759	1	1	121404	12	44	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMO2	2327	broad.mit.edu	37	1	171173107	171173107	+	Missense_Mutation	SNP	G	G	A	rs144453751		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171173107G>A	ENST00000209929.7	+	6	889	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FMO2_ENST00000441535.1_Missense_Mutation_p.R244H|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)			22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				TCTATGCTCCGCAATGTACTG	0.473000																								0							SO:0001583	missense			ENST00000209929.7	1	1	hg19	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080127	0.36662	0.0	2.33E-4	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.55413	0.52;0.52	6.13	2.14	0.27477	.	0.510314	0.20530	N	0.090523	T	0.49423	0.1556	M	0.69523	2.12	0.20196	N	0.999921	D	0.64830	0.994	D	0.66084	0.941	T	0.42378	-0.9455	10	0.30078	T	0.28	-4.5642	8.6367	0.33953	0.4608:0.0:0.5392:0.0	.	244	Q99518	FMO2_HUMAN	H	244	ENSP00000209929:R244H;ENSP00000405905:R244H	ENSP00000209929:R244H	R	+	2	0	FMO2	169439731	0.000000	0.05858	0.525000	0.27900	0.025000	0.11179	-0.123000	0.10611	0.151000	0.19162	-0.141000	0.14075	CGC		TCGA-IB-7651-01A-11D-2154-08	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	1	0	1	51	222	0	59	0	9.999990e-01	0	93	0	59	2		0	0	0	0	0	2	1	1	49	219	0	59	2								-3.227166	1	1	121396	54	49	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMO2	2327	broad.mit.edu	37	1	171177942	171177942	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171177942A>G	ENST00000209929.7	+	9	1424	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	FMO2_ENST00000441535.1_Silent_p.E422E|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)			22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				GGTTTGGAGAAAGCCAGAGCC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000209929.7	1	1	hg19	CCDS1293.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	0	0	1	120	650	1	110	0	9.999000e-01	0	136	1	110	7		0	0	0	0	0	2	1	1	118	634	1	110	22								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMO1	2326	broad.mit.edu	37	1	171248003	171248003	+	Missense_Mutation	SNP	C	C	T	rs146934200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171248003C>T	ENST00000354841.4	+	4	751	c.620C>T	c.(619-621)gCg>gTg	p.A207V	FMO1_ENST00000402921.2_Missense_Mutation_p.A144V|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.A207V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1			27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)			Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGCCACCTGGCGGAAAAGGTA	0.428000																								0							SO:0001583	missense			ENST00000354841.4	0	1	hg19	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	38	6.696619	0.97772	0.0	2.33E-4	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.34	5.34	0.76211	.	0.115098	0.56097	D	0.000024	T	0.81380	0.4810	M	0.91561	3.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.74348	0.983;0.745;0.97	D	0.84607	0.0676	10	0.62326	D	0.03	.	18.1935	0.89813	0.0:1.0:0.0:0.0	.	144;207;207	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	V	207;207;144;207	ENSP00000356724:A207V;ENSP00000406982:A207V;ENSP00000385543:A144V;ENSP00000346901:A207V	ENSP00000346901:A207V	A	+	2	0	FMO1	169514627	1.000000	0.71417	0.437000	0.26809	0.936000	0.57629	7.625000	0.83145	2.665000	0.90641	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	0	0	0	8	250	0	54	0	1.553281e-01	0	20	0	54	2		0	0	0	0	0	2	1	9.886390e-01	8	244	0	54	2								-9.014056	1	1	121392	7	37	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.410000	0.190000	0.730000	0.390000	0.436230	0.410000	0	2.900000e-01	5.700000e-01
FMO4	2329	broad.mit.edu	37	1	171303754	171303754	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171303754C>A	ENST00000367749.3	+	8	1362	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	p.L344L(1)		33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)				TTAAAAGCCTCTGTACAAAGA	0.378000													Pancreas(24;816 862 7754 7993 32832)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000367749.3	0	1	hg19	CCDS1295.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	0	0	0	11	561	0	91	0	6.621231e-03	0	6	0	91	2		0	0	0	0	0	2	1	9.982913e-01	11	557	0	91	2								-2.940861	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.250000	0.130000	0.420000	0.240000	0.265337	0.250000	0	1.800000e-01	3.400000e-01
MYOC	4653	broad.mit.edu	37	1	171621507	171621507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171621507C>T	ENST00000037502.6	-	1	316	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response			28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)				CAGGTCTAAGCGTTGGGTGCT	0.582000																								0							SO:0001583	missense			ENST00000037502.6	1	1	hg19	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	5.460	0.270037	0.10349	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	T	0.57907	0.37	5.21	3.29	0.37713	.	0.342434	0.30809	N	0.008833	T	0.19327	0.0464	L	0.37561	1.115	0.09310	N	0.999991	B	0.13594	0.008	B	0.04013	0.001	T	0.09862	-1.0655	10	0.37606	T	0.19	.	6.7439	0.23451	0.0:0.7854:0.0:0.2146	.	82	Q99972	MYOC_HUMAN	H	82;82;15;82	ENSP00000037502:R82H	ENSP00000037502:R82H	R	-	2	0	MYOC	169888130	0.011000	0.17503	0.625000	0.29200	0.159000	0.22180	-0.090000	0.11163	1.285000	0.44548	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	1	0	0	35	442	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	34	430	0	88	2								-9.051879	1	1	121412	58	49	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.930000	0.660000	1.000000	1.000000	0.911757	0.930000	1	7.900000e-01	1
METTL13	51603	broad.mit.edu	37	1	171759640	171759640	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171759640C>T	ENST00000361735.3	+	5	1624	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	METTL13_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000466643.1_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13			41					CCTGCTGATGCGGAGGACCTC	0.532000																								0							SO:0001583	missense			ENST00000361735.3	1	1	hg19	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	5.713	0.316117	0.10789	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.91	3.01	0.34805	.	0.690282	0.15326	N	0.268278	T	0.00936	0.0031	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.18863	0.031;0.001;0.031	B;B;B	0.16289	0.01;0.003;0.015	T	0.47898	-0.9081	10	0.23302	T	0.38	-17.3518	6.4455	0.21873	0.0:0.6607:0.1314:0.2079	.	452;297;453	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	V	452;367;297;453	ENSP00000401955:A452V;ENSP00000355393:A367V;ENSP00000356711:A297V;ENSP00000354920:A453V	ENSP00000354920:A453V	A	+	2	0	METTL13	170026263	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.257000	0.18369	0.397000	0.25310	-0.122000	0.15005	GCG		TCGA-IB-7651-01A-11D-2154-08	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	1	0	1	140	428	0	87	1	1	46	88	0	87	2		0	0	0	0	0	2	1	1	138	422	0	87	2								-20.000000	1	1	121408	3	37	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
METTL13	51603	broad.mit.edu	37	1	171765763	171765763	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171765763C>A	ENST00000361735.3	+	8	2233	c.1967C>A	c.(1966-1968)cCt>cAt	p.P656H	METTL13_ENST00000362019.3_Missense_Mutation_p.P570H|METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	p.P656L(1)		41					CAGCTGCACCCTGAGCAAAAA	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000361735.3	1	1	hg19	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560058	0.65538	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.79	5.79	0.91817	.	0.459579	0.26742	N	0.022725	T	0.80110	0.4563	L	0.36672	1.1	0.20764	N	0.999852	B;D;B	0.56287	0.054;0.975;0.198	B;P;B	0.58660	0.018;0.843;0.28	T	0.76408	-0.2970	10	0.87932	D	0	-0.688	19.635	0.95728	0.0:1.0:0.0:0.0	.	655;500;656	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	H	655;570;500;656;356;353	ENSP00000401955:P655H;ENSP00000355393:P570H;ENSP00000356711:P500H;ENSP00000354920:P656H;ENSP00000356710:P356H	ENSP00000341732:P353H	P	+	2	0	METTL13	170032386	0.034000	0.19679	0.412000	0.26496	0.966000	0.64601	3.279000	0.51670	2.733000	0.93635	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	1	0	1	143	460	0	99	1	1	57	84	0	99	2		0	0	0	0	0	2	1	1	142	449	0	99	2								-4.554072	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNB1	2782	broad.mit.edu	37	1	1718817	1718817	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1718817C>T	ENST00000378609.4	-	11	1307	c.976G>A	c.(976-978)Gct>Act	p.A326T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1			12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)			GTCGCCACAGCCATGCCATCG	0.572000																								0							SO:0001583	missense			ENST00000378609.4	1	1	hg19	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.051123|6.051123	0.97236|0.97236	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.59224|.	0.28|.	5.74|5.74	5.74|5.74	0.90152|0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.100656|.	0.64402|.	D|.	0.000003|.	T|.	0.57169|.	0.2035|.	N|N	0.25789|0.25789	0.76|0.76	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|.	0.50056|.	-0.8872|.	10|.	0.31617|.	T|.	0.26|.	-16.5478|-16.5478	18.9108|18.9108	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	326|.	P62873|.	GBB1_HUMAN|.	T|X	326;226;326|183	ENSP00000367872:A326T|.	ENSP00000367869:A326T|.	A|W	-|-	1|3	0|0	GNB1|GNB1	1708677|1708677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.600000|7.600000	0.82769|0.82769	2.720000|2.720000	0.93068|0.93068	0.561000|0.561000	0.74099|0.74099	GCT|TGG		TCGA-IB-7651-01A-11D-2154-08	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	0	0	1	40	409	1	119	1	1	145	1053	1	119	30		0	0	0	0	0	2	1	9.999324e-01	39	405	1	119	14								-12.133150	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.880000	0.670000	1.000000	0.940000	0.873833	0.880000	1	7.700000e-01	9.600000e-01
CROCC	9696	broad.mit.edu	37	1	17256517	17256517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17256517G>A	ENST00000375541.5	+	4	597	c.528G>A	c.(526-528)ctG>ctA	p.L176L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin			62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)			TGCAGCGGCTGCAGGGCAAGG	0.682000																								0							SO:0001819	synonymous_variant			ENST00000375541.5	0	1	hg19	CCDS30616.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	1	0	0	5	41	0	10	0	1.740340e-01	1	5	0	10	2		0	0	0	0	0	2	1	9.376658e-01	5	40	0	10	2								-11.068310	1	1	119478	4	24	1	0	6	6	1.935291	1	0.170000	2.060000	3.805970e-01	0.990000	0.720000	1.000000	1.000000	0.983101	0.990000	1	9.900000e-01	1
FASLG	356	broad.mit.edu	37	1	172634947	172634947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172634947A>G	ENST00000367721.2	+	4	821	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)			19					CAAGGTCTACATGAGGAACTC	0.512000													Ovarian(28;486 876 30334 44033)											0							SO:0001583	missense			ENST00000367721.2	1	1	hg19	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	A	4.303	0.055528	0.08291	.	.	ENSG00000117560	ENST00000367721	D	0.94330	-3.4	5.02	2.64	0.31445	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.431289	0.26715	N	0.022880	T	0.71745	0.3376	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.63752	-0.6566	10	0.35671	T	0.21	-5.2216	6.2711	0.20955	0.7791:0.0:0.0793:0.1416	.	213	P48023	TNFL6_HUMAN	V	213	ENSP00000356694:M213V	ENSP00000356694:M213V	M	+	1	0	FASLG	170901570	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	1.143000	0.31553	0.333000	0.23563	-0.263000	0.10527	ATG		TCGA-IB-7651-01A-11D-2154-08	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1	1	0	1	88	500	0	96	0	2.860057e-01	0	7	0	96	2		0	0	0	0	0	2	1	1	88	491	0	96	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CROCC	9696	broad.mit.edu	37	1	17281832	17281832	+	Missense_Mutation	SNP	G	G	A	rs145972878	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281832G>A	ENST00000375541.5	+	24	3560	c.3491G>A	c.(3490-3492)cGt>cAt	p.R1164H		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin			62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)			ACCCAGCTGCGTCTGCTGGAG	0.697000																								0							SO:0001583	missense			ENST00000375541.5	1	1	hg19	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	9.156	1.017534	0.19355	0.0	9.32E-4	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.54479	0.57	4.31	2.39	0.29439	.	.	.	.	.	T	0.42810	0.1219	L	0.45137	1.4	0.28356	N	0.920651	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.40794	-0.9544	9	0.54805	T	0.06	.	8.2951	0.31980	0.2008:0.0:0.7992:0.0	.	467;1164	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	H	1164;1045	ENSP00000364691:R1164H	ENSP00000364691:R1164H	R	+	2	0	CROCC	17154419	0.008000	0.16893	0.998000	0.56505	0.024000	0.10985	0.109000	0.15417	1.113000	0.41760	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	0	0	0	17	228	0	47	0	2.979640e-02	0	4	0	47	2		0	0	0	0	0	2	1	9.999646e-01	17	223	0	47	2								-10.676590	1	1	121162	85	49	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.710000	0.440000	0.970000	0.720000	0.724185	0.710000	0	5.700000e-01	8.700000e-01
CROCC	9696	broad.mit.edu	37	1	17281989	17281989	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281989G>T	ENST00000375541.5	+	24	3717	c.3648G>T	c.(3646-3648)cgG>cgT	p.R1216R		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin			62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)			AGGCCCTGCGGCGTTCCAATG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000375541.5	0	1	hg19	CCDS30616.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	1	0	0	5	52	0	18	0	3.248124e-02	0	3	0	18	2		0	0	0	0	0	2	1	9.376066e-01	5	51	0	18	2								-12.577140	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.730000	0.320000	0.990000	0.840000	0.716603	0.730000	0	5.100000e-01	9.100000e-01
CROCC	9696	broad.mit.edu	37	1	17296826	17296826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17296826C>T	ENST00000375541.5	+	34	5599	c.5530C>T	c.(5530-5532)Cag>Tag	p.Q1844*		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin			62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)			GCGGCTGCTGCAGGAGCGCCT	0.687000																								0							SO:0001587	stop_gained			ENST00000375541.5	0	1	hg19	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	44	11.134003	0.99521	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	16.3426	0.83092	0.0:1.0:0.0:0.0	.	.	.	.	X	1844;1725	.	ENSP00000364691:Q1844X	Q	+	1	0	CROCC	17169413	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.884000	0.56175	2.546000	0.85860	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	0	0	0	4	44	0	10	0	7.803559e-01	1	32	0	10	2		0	0	0	0	0	2	1	8.932228e-01	4	44	0	10	2								-9.660248	1	1	115516	1	25	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.690000	0.270000	0.980000	0.780000	0.686214	0.690000	0	4.600000e-01	9.000000e-01
TNFSF18	8995	broad.mit.edu	37	1	173010570	173010570	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173010570C>A	ENST00000404377.3	-	3	537	c.537G>T	c.(535-537)caG>caT	p.Q179H	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18			9					TTTTTAGAACCTGATGCTCAG	0.368000																								0							SO:0001583	missense			ENST00000404377.3	0	1	hg19	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012705	0.19277	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	D;D	0.94417	-3.42;-3.42	5.45	-0.157	0.13387	Tumour necrosis factor (1);Tumour necrosis factor-like (2);	0.333776	0.26072	N	0.026520	T	0.74703	0.3751	L	0.28274	0.84	0.09310	N	0.999996	B	0.31040	0.305	B	0.34652	0.187	T	0.68727	-0.5332	10	0.14656	T	0.56	-6.4029	0.9816	0.01437	0.3293:0.341:0.15:0.1798	.	179	Q9UNG2	TNF18_HUMAN	H	179;157	ENSP00000385470:Q179H;ENSP00000239468:Q157H	ENSP00000239468:Q157H	Q	-	3	2	TNFSF18	171277193	0.857000	0.29778	0.836000	0.33094	0.877000	0.50540	0.128000	0.15810	0.315000	0.23110	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	0	0	0	11	410	0	79	0	4.992597e-03	0	4	0	79	2		0	0	0	0	0	2	1	9.983366e-01	11	408	0	79	2								-3.132573	1	1	121400	1	30	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.340000	0.180000	0.570000	0.330000	0.359323	0.340000	0	2.500000e-01	4.600000e-01
MFAP2	4237	broad.mit.edu	37	1	17301766	17301766	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17301766C>T	ENST00000375535.3	-	8	735	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q|MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2			2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)			CTTCCTACCTCGGAGGAGCTC	0.567000																								0							SO:0001583	missense			ENST00000375535.3	1	1	hg19	CCDS174.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956411	0.92726	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	L	0.59436	1.845	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.973	T	0.75935	-0.3142	9	0.49607	T	0.09	-26.3955	14.0767	0.64893	0.0:1.0:0.0:0.0	.	148;149	Q5JXY0;P55001	.;MFAP2_HUMAN	Q	149;148;148	.	ENSP00000364684:R148Q	R	-	2	0	MFAP2	17174353	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.053000	0.57427	1.990000	0.58119	0.491000	0.48974	CGA		TCGA-IB-7651-01A-11D-2154-08	MFAP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006609.1	1	0	1	27	158	0	39	1	1	4	666	0	39	2		0	0	0	0	0	2	1	1	26	153	0	39	2								-20.000000	1	1	121410	1	36	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.940000	0.770000	1.000000	0.990000	0.934497	0.940000	1	8.700000e-01	9.900000e-01
KLHL20	27252	broad.mit.edu	37	1	173722355	173722355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173722355C>T	ENST00000209884.4	+	5	896	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	KLHL20_ENST00000546011.1_Silent_p.L65L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20			34					CTCATAGGTGCTGCAGCATGT	0.428000													GBM(159;862 2695 6559 23041)											0							SO:0001819	synonymous_variant			ENST00000209884.4	1	1	hg19	CCDS1310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	1	0	1	25	172	0	32	1	9.984500e-01	14	59	0	32	2		0	0	0	0	0	2	1	9.999999e-01	24	170	0	32	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999417	0.990000	1	9.900000e-01	1
KLHL20	27252	broad.mit.edu	37	1	173744779	173744779	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744779G>A	ENST00000209884.4	+	10	1572	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20			34					ACAGTGGAACGTTACAATCCT	0.438000													GBM(159;862 2695 6559 23041)											0							SO:0001583	missense			ENST00000209884.4	1	1	hg19	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861815	0.32884	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.81247	-1.47;-1.47	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	H	0.96208	3.785	0.80722	D	1	P;P	0.41393	0.646;0.748	B;B	0.42138	0.303;0.377	D	0.85542	0.1216	10	0.15499	T	0.54	.	17.8879	0.88862	0.0:0.0:1.0:0.0	.	290;479	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	H	290;479	ENSP00000443121:R290H;ENSP00000209884:R479H	ENSP00000209884:R479H	R	+	2	0	KLHL20	172011402	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.296000	0.96104	2.524000	0.85096	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	1	0	1	72	181	0	54	1	9.999975e-01	11	41	0	54	2		0	0	0	0	0	2	1	1	72	177	0	54	2								-20.000000	1	0	121412	1	26	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL20	27252	broad.mit.edu	37	1	173744849	173744849	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744849T>C	ENST00000209884.4	+	10	1642	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	KLHL20_ENST00000546011.1_Silent_p.C313C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20			34					ACCTAGGCTGTGCAGTATATC	0.488000													GBM(159;862 2695 6559 23041)											0							SO:0001819	synonymous_variant			ENST00000209884.4	1	1	hg19	CCDS1310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	1	0	0	67	368	0	100	1	9.992740e-01	12	49	0	100	2		0	0	0	0	0	2	1	1	66	364	0	100	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CENPL	91687	broad.mit.edu	37	1	173772420	173772420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173772420G>A	ENST00000345664.6	-	4	857	c.644C>T	c.(643-645)gCa>gTa	p.A215V	CENPL_ENST00000367710.3_Missense_Mutation_p.A215V|CENPL_ENST00000356198.2_Missense_Mutation_p.A261V	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L			11					AAGATTAAATGCATTGATTGC	0.413000																								0							SO:0001583	missense			ENST00000345664.6	1	1	hg19	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856235	0.71834	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.48522	1.42;0.81;0.81	5.03	4.12	0.48240	.	0.193605	0.45867	D	0.000323	T	0.38532	0.1044	L	0.36672	1.1	0.31499	N	0.665073	D;B	0.60575	0.988;0.004	P;B	0.58721	0.844;0.012	T	0.31475	-0.9942	10	0.45353	T	0.12	.	12.5652	0.56306	0.082:0.0:0.918:0.0	.	261;215	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	V	261;215;215	ENSP00000348527:A261V;ENSP00000323543:A215V;ENSP00000356683:A215V	ENSP00000323543:A215V	A	-	2	0	CENPL	172039043	1.000000	0.71417	0.826000	0.32828	0.989000	0.77384	6.614000	0.74197	1.124000	0.41980	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	1	0	1	94	532	0	87	1	7.761034e-01	3	15	0	87	2		0	0	0	0	0	2	1	1	90	524	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINC1	462	broad.mit.edu	37	1	173878870	173878870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173878870C>T	ENST00000367698.3	-	5	1091	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1			25				Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCTACCTTGGCCAGGCTCTTC	0.562000																								0							SO:0001583	missense			ENST00000367698.3	1	1	hg19	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023934	0.08006	.	.	ENSG00000117601	ENST00000367698	D	0.82711	-1.64	5.45	3.58	0.41010	Serpin domain (3);	0.660844	0.16797	N	0.199144	T	0.60869	0.2302	L	0.48260	1.515	0.22873	N	0.998623	B	0.02656	0.0	B	0.04013	0.001	T	0.48969	-0.8987	10	0.24483	T	0.36	.	12.0354	0.53423	0.0:0.7947:0.0:0.2053	.	325	P01008	ANT3_HUMAN	T	325	ENSP00000356671:A325T	ENSP00000356671:A325T	A	-	1	0	SERPINC1	172145493	0.737000	0.28175	1.000000	0.80357	0.227000	0.25037	0.568000	0.23623	0.289000	0.22422	-0.797000	0.03246	GCC		TCGA-IB-7651-01A-11D-2154-08	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	1	0	1	120	665	0	141		0	0	0	0	141	2		0	0	0	0	0	2	1	1	120	652	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINC1	462	broad.mit.edu	37	1	173881079	173881079	+	Missense_Mutation	SNP	C	C	T	rs121909563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173881079C>T	ENST00000367698.3	-	3	600	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1			25				Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCGATAGAGTCGGCAGTTCAG	0.398000																								0		GRCh37	CM900039	SERPINC1	M	rs121909563	SO:0001583	missense			ENST00000367698.3	1	1	hg19	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253842	0.95336	2.27E-4	0.0	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.84516	-1.86	5.66	5.66	0.87406	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	L	0.33093	0.98	0.80722	A	1	D	0.89917	1.0	D	0.67382	0.951	D	0.87179	0.2226	9	0.54805	T	0.06	.	19.7525	0.96273	0.0:1.0:0.0:0.0	.	161	P01008	ANT3_HUMAN	Q	161	ENSP00000356671:R161Q	ENSP00000307953:R161Q	R	-	2	0	SERPINC1	172147702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.669000	0.90835	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	1	0	1	116	659	0	123	0	0	0	1	0	123	2		0	0	0	0	0	2	1	1	111	651	0	121	2								-3.221956	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RC3H1	149041	broad.mit.edu	37	1	173931058	173931058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173931058G>A	ENST00000367696.2	-	12	2358	c.2007C>T	c.(2005-2007)caC>caT	p.H669H	RC3H1_ENST00000258349.4_Silent_p.H669H|RC3H1_ENST00000367694.2_Silent_p.H669H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1			50					GGCCATCATAGTGAGATGGGT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000367696.2	1	1	hg19	CCDS30940.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	1	0	1	221	571	0	138	1	9.867828e-01	5	15	0	138	2		0	0	0	0	0	2	1	1	215	561	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RC3H1	149041	broad.mit.edu	37	1	173947683	173947683	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173947683T>G	ENST00000367696.2	-	7	1396	c.1045A>C	c.(1045-1047)Aac>Cac	p.N349H	RC3H1_ENST00000258349.4_Missense_Mutation_p.N349H|RC3H1_ENST00000367694.2_Missense_Mutation_p.N349H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1			50					CGGTTCAAGTTTGCTGGGTCT	0.423000																								0							SO:0001583	missense			ENST00000367696.2	1	1	hg19	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818545	0.90790	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.93859	-3.3;-3.3;-3.3	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.74023	0.96;0.96;0.982;0.952	D	0.95993	0.8987	10	0.72032	D	0.01	-15.3279	15.8908	0.79296	0.0:0.0:0.0:1.0	.	349;349;349;349	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	349	ENSP00000356669:N349H;ENSP00000258349:N349H;ENSP00000356667:N349H	ENSP00000258349:N349H	N	-	1	0	RC3H1	172214306	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.037000	0.88933	2.144000	0.66660	0.529000	0.55759	AAC		TCGA-IB-7651-01A-11D-2154-08	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	0	0	0	9	417	0	72	0	9.643233e-02	0	22	0	72	2		0	0	0	0	0	2	1	9.941415e-01	9	414	0	72	2								-2.589260	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.280000	0.130000	0.480000	0.270000	0.295963	0.280000	0	1.900000e-01	3.800000e-01
PADI2	11240	broad.mit.edu	37	1	17410236	17410236	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17410236G>A	ENST00000375486.4	-	9	1098	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II			29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		L-Citrulline(DB00155)	TCCAGCGATCGCCTCGGTTTA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000375486.4	1	1	hg19	CCDS177.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1	1	0	1	50	352	0	97	0	9.595851e-01	1	38	0	97	2		0	0	0	0	0	2	1	1	50	345	0	97	2								-19.577730	1	1	121412	5	38	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.950966	0.950000	1	9.000000e-01	9.900000e-01
RABGAP1L	9910	broad.mit.edu	37	1	174190149	174190149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174190149G>A	ENST00000251507.4	+	3	352	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	p.E60*(1)		45					AAAAGCCATGGAAGAGATTTT	0.373000																								1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000251507.4	1	1	hg19	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418065	0.83449	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.54675	0.56;3.39;0.82	5.6	5.6	0.85130	.	0.050402	0.85682	D	0.000000	T	0.65048	0.2654	M	0.68593	2.085	0.80722	D	1	D;P;P	0.54601	0.967;0.945;0.948	B;P;B	0.55508	0.427;0.777;0.443	T	0.60444	-0.7262	10	0.26408	T	0.33	.	17.3758	0.87391	0.0:0.0:1.0:0.0	.	60;60;23	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	K	23;60;60;60	ENSP00000350027:E23K;ENSP00000251507:E60K;ENSP00000403136:E60K	ENSP00000251507:E60K	E	+	1	0	RABGAP1L	172456772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.641000	0.67881	2.648000	0.89879	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	1	0	1	110	533	0	104	1	9.957369e-01	2	40	0	104	2		0	0	0	0	0	2	1	1	109	524	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABGAP1L	9910	broad.mit.edu	37	1	174210743	174210743	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174210743A>G	ENST00000251507.4	+	5	839	c.665A>G	c.(664-666)cAt>cGt	p.H222R	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like			45					GAGAGTTCCCATGGTTCGGAA	0.373000																								0							SO:0001583	missense			ENST00000251507.4	1	1	hg19	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456919	0.26161	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.17370	2.28;2.28;2.28	5.41	2.66	0.31614	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.279450	0.35739	N	0.003006	T	0.04452	0.0122	N	0.01482	-0.84	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.0	T	0.29579	-1.0007	10	0.26408	T	0.33	.	1.6768	0.02823	0.4307:0.3079:0.1118:0.1496	.	222;222;185	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	R	185;222;222;222	ENSP00000350027:H185R;ENSP00000251507:H222R;ENSP00000403136:H222R	ENSP00000251507:H222R	H	+	2	0	RABGAP1L	172477366	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.531000	0.53546	0.854000	0.35336	0.460000	0.39030	CAT		TCGA-IB-7651-01A-11D-2154-08	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	1	0	1	79	254	0	69	1	9.999871e-01	19	37	0	69	2		0	0	0	0	0	2	1	1	77	249	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABGAP1L	9910	broad.mit.edu	37	1	174241551	174241551	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174241551G>A	ENST00000251507.4	+	8	1160		c.e8-1		RABGAP1L_ENST00000357444.6_Splice_Site|RABGAP1L_ENST00000367689.3_Splice_Site	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like			45					AATATTTTCAGATGTTTTGGA	0.348000																								0							SO:0001630	splice_region_variant			ENST00000251507.4	1	1	hg19	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092449	0.94149	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8885	0.96919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1L	172508174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.904000	0.92590	2.700000	0.92200	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	1	0	1	82	408	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	82	404	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABGAP1L	9910	broad.mit.edu	37	1	174363157	174363157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174363157G>A	ENST00000251507.4	+	13	1758	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	RABGAP1L_ENST00000357444.6_Silent_p.P491P|RABGAP1L_ENST00000367689.3_Silent_p.P175P	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like			45					GTGCACGACCGAAAGGGCTGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000251507.4	1	1	hg19	CCDS1314.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	1	0	0	49	561	0	106	0	9.298690e-01	0	53	0	106	2		0	0	0	0	0	2	1	1	48	553	0	105	2								-3.017764	1	1	121410	10	43	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.770000	1.000000	1.000000	0.961142	0.990000	1	8.900000e-01	1
CACYBP	27101	broad.mit.edu	37	1	174979110	174979110	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174979110T>C	ENST00000367679.2	+	6	1030	c.582T>C	c.(580-582)gtT>gtC	p.V194V	CACYBP_ENST00000405362.1_Silent_p.V151V|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000367681.2_Silent_p.V151V	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein			11					TGATGAATGTTCTAAAGAAAA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000367679.2	1	1	hg19	CCDS1315.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	1	0	1	96	237	0	46	1	1	164	256	0	46	2		0	0	0	0	0	2	1	1	93	235	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNN	63923	broad.mit.edu	37	1	175046648	175046648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175046648G>A	ENST00000239462.4	+	2	207	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N			156		Breast(1374;0.000962)			GGAGCCTCCCGGCTGCAGCAA	0.602000																								0							SO:0001583	missense			ENST00000239462.4	1	1	hg19	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	3.038	-0.198149	0.06219	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.23950	1.88	5.51	-0.53	0.11898	.	0.570052	0.18192	N	0.148793	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	B;B	0.26002	0.033;0.139	B;B	0.12156	0.003;0.007	T	0.13791	-1.0496	10	0.48119	T	0.1	.	9.2488	0.37543	0.5862:0.0:0.4138:0.0	.	32;32	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	32	ENSP00000239462:G32S	ENSP00000239462:G32S	G	+	1	0	TNN	173313271	0.001000	0.12720	0.003000	0.11579	0.037000	0.13140	0.451000	0.21779	-0.193000	0.10415	-0.797000	0.03246	GGC		TCGA-IB-7651-01A-11D-2154-08	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	0	0	0	17	480	0	82	0	1.847294e-02	0	6	0	82	2		0	0	0	0	0	2	1	9.999223e-01	17	433	0	64	2								-15.560150	1	1	121410	11	42	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.440000	0.260000	0.670000	0.430000	0.457439	0.440000	0	3.400000e-01	5.600000e-01
TNN	63923	broad.mit.edu	37	1	175048561	175048561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175048561C>T	ENST00000239462.4	+	3	615	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N			156		Breast(1374;0.000962)			CGCCTGCGAGCGGCTGGCCTG	0.736000																								0							SO:0001583	missense			ENST00000239462.4	1	1	hg19	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357543	0.24598	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.03358	3.96	4.46	3.53	0.40419	.	1.169990	0.06082	N	0.661968	T	0.09113	0.0225	M	0.81802	2.56	0.09310	N	0.999998	D;B	0.60160	0.987;0.159	B;B	0.38712	0.28;0.02	T	0.48896	-0.8994	10	0.87932	D	0	.	14.1649	0.65471	0.0:0.8483:0.1517:0.0	.	168;168	B3KXB6;Q9UQP3	.;TENN_HUMAN	W	168	ENSP00000239462:R168W	ENSP00000239462:R168W	R	+	1	2	TNN	173315184	0.004000	0.15560	0.423000	0.26634	0.069000	0.16628	1.331000	0.33793	0.948000	0.37687	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	1	0	0	28	68	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	1	28	65	0	9	2								-20.000000	1	1	117206	10	32	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNN	63923	broad.mit.edu	37	1	175049459	175049459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175049459C>T	ENST00000239462.4	+	4	1058	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N			156		Breast(1374;0.000962)			AGCAGCACAGCTATGAGATTC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000239462.4	1	1	hg19	CCDS30943.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	0	0	0	16	428	0	83	0	4.435253e-03	0	3	0	83	2		0	0	0	0	0	2	1	9.999242e-01	16	420	0	83	2								-15.318260	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.460000	0.270000	0.710000	0.450000	0.482981	0.460000	0	3.600000e-01	5.900000e-01
TNR	7143	broad.mit.edu	37	1	175299240	175299240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175299240G>T	ENST00000367674.2	-	21	4471	c.3763C>A	c.(3763-3765)Ctc>Atc	p.L1255I	TNR_ENST00000263525.2_Missense_Mutation_p.L1255I|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				CCTATGCGGAGTTTGTACAGG	0.602000																								0							SO:0001583	missense			ENST00000367674.2	1	1	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428684	0.43122	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	D;D	0.82619	-1.63;-1.63	5.64	4.72	0.59763	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.070418	0.64402	N	0.000017	D	0.85805	0.5782	M	0.82517	2.595	0.54753	D	0.999987	B	0.11235	0.004	B	0.28232	0.087	D	0.83952	0.0317	10	0.62326	D	0.03	.	15.8324	0.78764	0.0:0.0:0.8634:0.1366	.	1255	Q92752	TENR_HUMAN	I	1255;1255;1165	ENSP00000356646:L1255I;ENSP00000263525:L1255I	ENSP00000263525:L1255I	L	-	1	0	TNR	173565863	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	5.105000	0.64591	1.354000	0.45846	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1	103	272	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	1	101	265	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNR	7143	broad.mit.edu	37	1	175304878	175304878	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175304878G>A	ENST00000367674.2	-	20	4308	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	TNR_ENST00000263525.2_Silent_p.G1200G|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				CGTTCCCGAAGCCAACACGGT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000367674.2	1	1	hg19	CCDS1318.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1	109	580	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1	109	564	0	129	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNR	7143	broad.mit.edu	37	1	175328762	175328762	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175328762A>C	ENST00000367674.2	-	15	3668	c.2960T>G	c.(2959-2961)cTt>cGt	p.L987R	TNR_ENST00000263525.2_Missense_Mutation_p.L987R			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				AAAGTGTGTAAGAACAATGAC	0.507000																								0							SO:0001583	missense			ENST00000367674.2	1	1	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496836	0.85069	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58358	0.34;0.34	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.150990	0.45361	D	0.000370	T	0.63546	0.2520	M	0.63428	1.95	0.58432	D	0.999997	P	0.45569	0.861	P	0.51918	0.684	T	0.66976	-0.5787	10	0.72032	D	0.01	.	15.6349	0.76944	1.0:0.0:0.0:0.0	.	987	Q92752	TENR_HUMAN	R	987;987;897	ENSP00000356646:L987R;ENSP00000263525:L987R	ENSP00000263525:L987R	L	-	2	0	TNR	173595385	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	8.606000	0.90888	2.159000	0.67721	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	0	0	0	10	381	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	9.966335e-01	10	372	0	107	2								-9.831547	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.330000	0.170000	0.570000	0.330000	0.354312	0.330000	0	2.400000e-01	4.500000e-01
TNR	7143	broad.mit.edu	37	1	175331945	175331945	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175331945A>C	ENST00000367674.2	-	14	3416	c.2708T>G	c.(2707-2709)gTg>gGg	p.V903G	TNR_ENST00000263525.2_Splice_Site_p.V903G			Q92752	TENR_HUMAN	tenascin R	p.V903G(2)		177	Renal(580;0.146)				TAGTCGTCCCACTGGAGAAGA	0.488000																								2	Substitution - Missense(2)						SO:0001630	splice_region_variant			ENST00000367674.2	0	1	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	8.296	0.818804	0.16607	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.50001	0.76;0.76	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000091	T	0.16171	0.0389	N	0.01197	-0.965	0.58432	D	0.999991	P	0.34462	0.454	B	0.34931	0.192	T	0.35724	-0.9777	10	0.05721	T	0.95	.	7.4796	0.27398	0.8761:0.0:0.1239:0.0	.	903	Q92752	TENR_HUMAN	G	903;903;813	ENSP00000356646:V903G;ENSP00000263525:V903G	ENSP00000263525:V903G	V	-	2	0	TNR	173598568	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	3.967000	0.56802	2.205000	0.71048	0.528000	0.53228	GTG		TCGA-IB-7651-01A-11D-2154-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	0	0	0	11	534	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	9.981442e-01	11	522	0	85	2								-3.270384	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.260000	0.130000	0.440000	0.250000	0.278356	0.260000	0	1.900000e-01	3.500000e-01
TNR	7143	broad.mit.edu	37	1	175332862	175332862	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175332862A>C	ENST00000367674.2	-	13	3397	c.2689T>G	c.(2689-2691)Tca>Gca	p.S897A	TNR_ENST00000263525.2_Missense_Mutation_p.S897A			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				GGTCGATATGATACTCGGTAG	0.438000																								0							SO:0001583	missense			ENST00000367674.2	1	1	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581674	0.46006	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56941	0.43;0.43	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.65677	2.01	0.52099	D	0.999948	B	0.06786	0.001	B	0.13407	0.009	T	0.41698	-0.9494	10	0.16420	T	0.52	.	10.905	0.47076	0.8432:0.1568:0.0:0.0	.	897	Q92752	TENR_HUMAN	A	897;897;807	ENSP00000356646:S897A;ENSP00000263525:S897A	ENSP00000263525:S897A	S	-	1	0	TNR	173599485	1.000000	0.71417	0.916000	0.36221	0.957000	0.61999	6.220000	0.72237	2.209000	0.71365	0.533000	0.62120	TCA		TCGA-IB-7651-01A-11D-2154-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1	65	329	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	1	64	323	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNR	7143	broad.mit.edu	37	1	175335086	175335086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175335086C>T	ENST00000367674.2	-	11	2950	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TNR_ENST00000263525.2_Missense_Mutation_p.A748T			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				ATGTACTCTGCCCCAGGCTCT	0.537000																								0							SO:0001583	missense			ENST00000367674.2	1	1	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731404	0.15507	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.49139	0.79;0.79	5.95	3.88	0.44766	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054165	0.64402	D	0.000001	T	0.09686	0.0238	N	0.00202	-1.86	0.36312	D	0.857685	B	0.02656	0.0	B	0.06405	0.002	T	0.29150	-1.0021	10	0.02654	T	1	.	4.424	0.11495	0.0:0.5736:0.0:0.4264	.	748	Q92752	TENR_HUMAN	T	748	ENSP00000356646:A748T;ENSP00000263525:A748T	ENSP00000263525:A748T	A	-	1	0	TNR	173601709	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.815000	0.55651	1.514000	0.48869	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1	129	361	0	114	0	0	0	1	0	114	2		0	0	0	0	0	2	1	1	128	351	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNR	7143	broad.mit.edu	37	1	175365935	175365935	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175365935G>T	ENST00000367674.2	-	5	1693	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TNR_ENST00000263525.2_Missense_Mutation_p.P329T			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				AAGTCCTCTGGAGGGGCAACT	0.557000																								0							SO:0001583	missense			ENST00000367674.2	1	1	hg19	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.291601|4.291601	0.80914|0.80914	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.79845|.	-1.31;-1.31|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.060171|.	0.64402|.	D|.	0.000003|.	D|D	0.84442|0.84442	0.5473|0.5473	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59767|.	0.986|.	D|.	0.65573|.	0.936|.	D|D	0.85106|0.85106	0.0960|0.0960	10|5	0.72032|.	D|.	0.01|.	.|.	19.9698|19.9698	0.97280|0.97280	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329|.	Q92752|.	TENR_HUMAN|.	T|Y	329|53	ENSP00000356646:P329T;ENSP00000263525:P329T|.	ENSP00000263525:P329T|.	P|S	-|-	1|2	0|0	TNR|TNR	173632558|173632558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.286000|3.286000	0.51724|0.51724	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCA|TCC		TCGA-IB-7651-01A-11D-2154-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1	90	547	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	88	535	0	127	2								-3.142732	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNR	7143	broad.mit.edu	37	1	175375803	175375803	+	Silent	SNP	G	G	A	rs142523357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175375803G>A	ENST00000367674.2	-	3	756	c.48C>T	c.(46-48)ggC>ggT	p.G16G	TNR_ENST00000263525.2_Silent_p.G16G			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				TCAGGTTGATGCCAATGAGCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000367674.2	1	1	hg19	CCDS1318.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	0	59	641	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1	59	629	0	144	2								-14.705870	1	1	121412	15	45	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.830000	1.000000	1.000000	0.979825	0.990000	1	9.400000e-01	1
PADI1	29943	broad.mit.edu	37	1	17570600	17570600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17570600C>T	ENST00000375471.4	+	16	1946	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	PADI1_ENST00000536552.1_Silent_p.S89S|PADI1_ENST00000413717.2_Silent_p.S133S|PADI1_ENST00000537499.1_Silent_p.S175S|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I			28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		L-Citrulline(DB00155)	AGGTGCAGTCCCTGCTGGAGC	0.592000													Esophageal Squamous(80;414 1257 4580 27746 50832)											0							SO:0001819	synonymous_variant			ENST00000375471.4	1	1	hg19	CCDS178.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	1	0	1	36	251	0	65	0	1.745632e-01	1	5	0	65	2		0	0	0	0	0	2	1	1	35	250	0	65	2								-3.319031	1	1	121412	1	33	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.936619	0.940000	1	8.700000e-01	9.900000e-01
PADI3	51702	broad.mit.edu	37	1	17597649	17597649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17597649G>T	ENST00000375460.3	+	9	1063	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III			32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		L-Citrulline(DB00155)	CACAGGCCGAGAACCGCAACG	0.627000																								0							SO:0001583	missense			ENST00000375460.3	1	1	hg19	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593350	0.28357	.	.	ENSG00000142619	ENST00000375460	T	0.25749	1.78	5.35	2.39	0.29439	Protein-arginine deiminase, C-terminal (1);	0.157632	0.56097	D	0.000028	T	0.22085	0.0532	M	0.67397	2.05	0.36617	D	0.875516	B	0.27316	0.175	B	0.27887	0.084	T	0.11324	-1.0592	10	0.15952	T	0.53	-29.1634	6.0443	0.19752	0.0749:0.1355:0.6491:0.1405	.	341	Q9ULW8	PADI3_HUMAN	D	341	ENSP00000364609:E341D	ENSP00000364609:E341D	E	+	3	2	PADI3	17470236	1.000000	0.71417	0.959000	0.39883	0.776000	0.43924	2.966000	0.49208	0.229000	0.21039	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1	1	0	0	10	181	0	36	0	1.010630e-02	0	3	0	36	2		0	0	0	0	0	2	1	9.970370e-01	10	180	0	36	2								-13.244880	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.550000	0.290000	0.890000	0.540000	0.575285	0.550000	0	4.000000e-01	7.300000e-01
RFWD2	64326	broad.mit.edu	37	1	176175792	176175792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176175792C>T	ENST00000367669.3	-	1	837	c.323G>A	c.(322-324)aGc>aAc	p.S108N	RP11-195C7.1_ENST00000456125.1_RNA|RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase			30					CCTGCTGCCGCTGCCTAGGCT	0.677000													Ovarian(134;1413 1765 5706 35534 51541)											0							SO:0001583	missense			ENST00000367669.3	1	1	hg19	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751596	0.69533	.	.	ENSG00000143207	ENST00000367669;ENST00000308769;ENST00000436424	T;T	0.59638	0.37;0.25	3.76	3.76	0.43208	.	0.391206	0.27433	N	0.019395	T	0.45236	0.1332	N	0.24115	0.695	0.53005	D	0.999965	B;B	0.30889	0.299;0.198	B;B	0.32864	0.154;0.074	T	0.50083	-0.8869	10	0.46703	T	0.11	-4.3193	14.8775	0.70504	0.0:1.0:0.0:0.0	.	108;108	Q8NHY2-2;Q8NHY2	.;RFWD2_HUMAN	N	108	ENSP00000356641:S108N;ENSP00000310943:S108N	ENSP00000310943:S108N	S	-	2	0	RFWD2	174442415	0.997000	0.39634	0.963000	0.40424	0.796000	0.44982	3.980000	0.56895	2.076000	0.62316	0.455000	0.32223	AGC		TCGA-IB-7651-01A-11D-2154-08	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	1	0	0	13	274	0	37	1	5.777455e-01	4	37	0	37	2		0	0	0	0	0	2	1	9.995234e-01	13	270	0	36	2								-14.880130	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.590000	0.330000	0.930000	0.570000	0.610127	0.590000	0	4.400000e-01	7.600000e-01
PAPPA2	60676	broad.mit.edu	37	1	176526268	176526268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176526268G>A	ENST00000367662.3	+	2	1974	c.810G>A	c.(808-810)gaG>gaA	p.E270E	PAPPA2_ENST00000367661.3_Silent_p.E270E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2			226					GGAGGCGGGAGCGGCTGCTGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000367662.3	1	1	hg19	CCDS41438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	0	64	202	0	53	0	1.489886e-01	0	3	0	53	2		0	0	0	0	0	2	1	1	64	201	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PADI4	23569	broad.mit.edu	37	1	17664602	17664602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV			26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527000																								0							SO:0001583	missense			ENST00000375448.4	1	1	hg19	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	7.390	0.630670	0.14322	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	5.15	-10.3	0.00346	Protein-arginine deiminase (PAD), central domain (2);	1.431090	0.04168	N	0.324253	T	0.02455	0.0075	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.26538	-1.0100	10	0.09338	T	0.73	0.0019	3.264	0.06859	0.3132:0.3875:0.204:0.0953	.	160;160	A8K392;Q9UM07	.;PADI4_HUMAN	K	160	ENSP00000364597:E160K	ENSP00000364597:E160K	E	+	1	0	PADI4	17537189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.930000	0.01557	-2.431000	0.00556	-2.173000	0.00322	GAA		TCGA-IB-7651-01A-11D-2154-08	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	1	0	1	70	339	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	70	333	0	104	2								-3.353044	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978035	0.980000	1	9.500000e-01	1
PAPPA2	60676	broad.mit.edu	37	1	176738773	176738773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176738773C>T	ENST00000367662.3	+	16	5518	c.4354C>T	c.(4354-4356)Cac>Tac	p.H1452Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2			226					TTCTTCTGGGCACTGGGACCA	0.473000																								0							SO:0001583	missense			ENST00000367662.3	1	1	hg19	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295248	0.40594	.	.	ENSG00000116183	ENST00000367662	T	0.76060	-0.99	6.17	2.18	0.27775	Sushi/SCR/CCP (1);	0.567281	0.20649	N	0.088252	T	0.67887	0.2941	L	0.60455	1.87	0.09310	N	0.999998	B	0.30542	0.284	B	0.33339	0.162	T	0.58891	-0.7556	10	0.44086	T	0.13	-8.2663	8.212	0.31488	0.0:0.6964:0.113:0.1906	.	1452	Q9BXP8	PAPP2_HUMAN	Y	1452	ENSP00000356634:H1452Y	ENSP00000356634:H1452Y	H	+	1	0	PAPPA2	175005396	0.000000	0.05858	0.983000	0.44433	0.960000	0.62799	0.126000	0.15769	0.468000	0.27243	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	0	45	445	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	44	439	0	88	2								-13.761880	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.990605	0.990000	1	9.900000e-01	1
PADI4	23569	broad.mit.edu	37	1	17674450	17674450	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17674450C>T	ENST00000375448.4	+	10	1088	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV			26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		L-Citrulline(DB00155)	AAATGGAGATCGGCTACATCC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000375448.4	1	1	hg19	CCDS180.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	1	0	0	14	200	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	9.997540e-01	14	196	0	55	2								-17.629220	1	1	121396	2	36	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.680000	0.400000	0.960000	0.680000	0.689223	0.680000	0	5.200000e-01	8.500000e-01
PAPPA2	60676	broad.mit.edu	37	1	176760572	176760572	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176760572A>G	ENST00000367662.3	+	19	6138	c.4974A>G	c.(4972-4974)tcA>tcG	p.S1658S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2			226					CACCCCCCTCAGAGCTGAATT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000367662.3	1	1	hg19	CCDS41438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	1	72	311	0	61	0	3.180827e-01	0	6	0	61	2		0	0	0	0	0	2	1	1	66	300	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAPPA2	60676	broad.mit.edu	37	1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	p.R1718H(1)		226					ACTGGCCGGCGTCAATGGCAC	0.493000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367662.3	1	1	hg19	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330450	0.60743	.	.	ENSG00000116183	ENST00000367662	T	0.01705	4.68	6.02	3.07	0.35406	.	0.289113	0.33092	N	0.005285	T	0.04048	0.0113	L	0.51422	1.61	0.09310	N	0.999999	D	0.76494	0.999	P	0.58210	0.835	T	0.36286	-0.9754	10	0.38643	T	0.18	-9.571	5.7732	0.18265	0.1489:0.0:0.6041:0.247	.	1718	Q9BXP8	PAPP2_HUMAN	H	1718	ENSP00000356634:R1718H	ENSP00000356634:R1718H	R	+	2	0	PAPPA2	175035842	0.007000	0.16637	0.443000	0.26883	0.918000	0.54935	1.478000	0.35442	0.897000	0.36392	-0.122000	0.15005	CGT		TCGA-IB-7651-01A-11D-2154-08	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	0	24	571	0	114	0	5.311597e-02	0	9	0	114	2		0	0	0	0	0	2	1	9.999996e-01	23	559	0	114	2								-3.700786	1	1	120854	9	44	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.510000	0.330000	0.740000	0.510000	0.531613	0.510000	0	4.200000e-01	6.300000e-01
ASTN1	460	broad.mit.edu	37	1	176857313	176857313	+	Missense_Mutation	SNP	G	G	T	rs141185084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176857313G>T	ENST00000367654.3	-	18	3203	c.2992C>A	c.(2992-2994)Ctc>Atc	p.L998I	ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					GAGCACCAGAGAGAGCTCATG	0.542000																								0							SO:0001583	missense			ENST00000367654.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.82	2.947532	0.53186	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.82	5.82	0.92795	.	0.063133	0.64402	D	0.000005	T	0.25717	0.0626	N	0.17082	0.46	0.54753	D	0.999981	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.011	T	0.03374	-1.1043	10	0.45353	T	0.12	-25.1042	14.515	0.67814	0.0:0.0:0.8532:0.1468	.	990;990	O14525-2;B1AJS1	.;.	I	990;990;998;990;990	ENSP00000356629:L990I;ENSP00000354536:L990I;ENSP00000356626:L998I;ENSP00000395041:L990I	ENSP00000354536:L990I	L	-	1	0	ASTN1	175123936	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.348000	0.59379	2.744000	0.94065	0.585000	0.79938	CTC		TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	47	246	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	47	243	0	55	2								-3.096616	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN1	460	broad.mit.edu	37	1	176863860	176863860	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176863860C>T	ENST00000367654.3	-	17	3013	c.2802G>A	c.(2800-2802)gcG>gcA	p.A934A	ASTN1_ENST00000367657.3_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A|ASTN1_ENST00000424564.2_Silent_p.A926A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					GGACTCCAGCCGCCATGTGCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000367654.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	181	581	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	178	573	0	100	2								-5.433160	1	1	121412	5	40	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN1	460	broad.mit.edu	37	1	176915202	176915202	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176915202C>T	ENST00000367654.3	-	13	2344	c.2133G>A	c.(2131-2133)acG>acA	p.T711T	ASTN1_ENST00000367657.3_Silent_p.T703T|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000424564.2_Silent_p.T703T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					GACAGGTCTCCGTGATGAGTT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000367654.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	89	444	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	84	440	0	75	2								-2.502104	1	1	121412	1	35	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN1	460	broad.mit.edu	37	1	176992602	176992602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992602G>A	ENST00000367654.3	-	7	1587	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					GAGGTCCATGGCCCAGGGTCC	0.627000																								0							SO:0001583	missense			ENST00000367654.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.922	1.212440	0.22289	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.12569	2.67;3.09;3.09;2.67	5.91	5.91	0.95273	.	0.106321	0.64402	D	0.000005	T	0.06508	0.0167	N	0.02916	-0.46	0.53005	D	0.999964	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.09377	0.004;0.004;0.004	T	0.23440	-1.0188	10	0.02654	T	1	-30.7684	19.8914	0.96931	0.0:0.0:1.0:0.0	.	459;459;459	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	459	ENSP00000356629:A459V;ENSP00000354536:A459V;ENSP00000356626:A459V;ENSP00000395041:A459V	ENSP00000354536:A459V	A	-	2	0	ASTN1	175259225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.109000	0.77062	2.813000	0.96785	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	28	74	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	28	73	0	28	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN1	460	broad.mit.edu	37	1	176992614	176992614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992614C>T	ENST00000367654.3	-	7	1575	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					CCAGGGTCCGCTGGAGTTCTG	0.647000																								0							SO:0001583	missense			ENST00000367654.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.2	4.509064	0.85282	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19806	2.12;2.53;2.53;2.12	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	L	0.29908	0.895	0.58432	D	0.999993	B;B;B	0.25667	0.131;0.05;0.05	B;B;B	0.24701	0.055;0.032;0.032	T	0.02539	-1.1144	10	0.66056	D	0.02	-19.3059	19.8914	0.96931	0.0:1.0:0.0:0.0	.	455;455;455	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	455	ENSP00000356629:S455N;ENSP00000354536:S455N;ENSP00000356626:S455N;ENSP00000395041:S455N	ENSP00000354536:S455N	S	-	2	0	ASTN1	175259237	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.766000	0.62279	2.813000	0.96785	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	35	76	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	34	75	0	30	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN1	460	broad.mit.edu	37	1	176992704	176992704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992704C>T	ENST00000367654.3	-	7	1485	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					GATGAAGCGGCTCCCTGCAGG	0.557000																								0							SO:0001583	missense			ENST00000367654.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.80	3.221929	0.58560	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.21191	2.02;2.43;2.43;2.03	5.77	5.77	0.91146	.	0.181563	0.64402	D	0.000014	T	0.33556	0.0867	L	0.32530	0.975	0.50171	D	0.999858	D;D;P	0.63046	0.992;0.977;0.886	P;P;P	0.57009	0.811;0.709;0.461	T	0.02020	-1.1228	10	0.72032	D	0.01	-30.8582	19.5786	0.95455	0.0:1.0:0.0:0.0	.	425;425;425	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	425	ENSP00000356629:S425N;ENSP00000354536:S425N;ENSP00000356626:S425N;ENSP00000395041:S425N	ENSP00000354536:S425N	S	-	2	0	ASTN1	175259327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.921000	0.63397	2.726000	0.93360	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	16	124	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.999418e-01	15	122	0	39	2								-19.999980	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.890000	1.000000	1.000000	0.993634	0.990000	1	9.900000e-01	1
ASTN1	460	broad.mit.edu	37	1	177000083	177000083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177000083C>T	ENST00000367654.3	-	4	1082	c.871G>A	c.(871-873)Gac>Aac	p.D291N	MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					TTGGCATTGTCACTTCCTGTA	0.418000																								0							SO:0001583	missense			ENST00000367654.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	34	5.341740	0.95783	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16597	2.33;2.74;2.75;2.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.81914	0.995;0.987;0.987	T	0.03773	-1.1005	10	0.66056	D	0.02	-36.3384	19.5808	0.95467	0.0:1.0:0.0:0.0	.	291;291;291	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	291	ENSP00000356629:D291N;ENSP00000354536:D291N;ENSP00000356626:D291N;ENSP00000395041:D291N	ENSP00000354536:D291N	D	-	1	0	ASTN1	175266706	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.348000	0.79366	2.706000	0.92434	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	70	241	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	66	234	0	50	2								-4.119427	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN1	460	broad.mit.edu	37	1	177030297	177030297	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177030297T>G	ENST00000367654.3	-	2	599	c.388A>C	c.(388-390)Agc>Cgc	p.S130R	ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					CCAGGAAGGCTTGGGGCACCA	0.537000																								0							SO:0001583	missense			ENST00000367654.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	16.00	2.998800	0.54147	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14640	2.49;2.9;2.9;2.49	6.06	6.06	0.98353	.	0.133095	0.64402	D	0.000003	T	0.14356	0.0347	L	0.36672	1.1	0.41103	D	0.985688	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.15870	0.014;0.014;0.014	T	0.02471	-1.1154	10	0.49607	T	0.09	-23.7253	16.2708	0.82618	0.0:0.0:0.0:1.0	.	130;130;130	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	130	ENSP00000356629:S130R;ENSP00000354536:S130R;ENSP00000356626:S130R;ENSP00000395041:S130R	ENSP00000354536:S130R	S	-	1	0	ASTN1	175296920	1.000000	0.71417	0.578000	0.28575	0.995000	0.86356	6.017000	0.70805	2.324000	0.78689	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	263	800	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	1	259	790	0	164	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN1	460	broad.mit.edu	37	1	177133624	177133624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177133624C>T	ENST00000367654.3	-	1	400	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ASTN1_ENST00000367657.3_Silent_p.E63E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.E63E|ASTN1_ENST00000424564.2_Silent_p.E63E	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					GGAGCTTGGGCTCCGAGGCCG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000367654.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	60	185	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1	59	183	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PADI6	353238	broad.mit.edu	37	1	17722154	17722154	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17722154C>T	ENST00000434762.2	+	0	1664							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI			29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		L-Citrulline(DB00155)	CAGCTCCTGTCTAATGGTAAG	0.502000																								0											ENST00000434762.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	0	0	0	7	62	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.815519e-01	7	61	0	16	2								-12.785460	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.790000	0.420000	0.990000	0.980000	0.777250	0.790000	0	6.000000e-01	9.400000e-01
RCC2	55920	broad.mit.edu	37	1	17748709	17748709	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17748709C>A	ENST00000375436.4	-	6	921	c.734G>T	c.(733-735)aGc>aTc	p.S245I	RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2			17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			CTGCGCGGGGCTGGGAACAGC	0.512000																								0							SO:0001583	missense			ENST00000375436.4	1	1	hg19	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849906	0.71603	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.83914	-1.78;-1.78	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	L	0.51422	1.61	0.80722	D	1	D	0.56521	0.976	P	0.59357	0.856	D	0.85421	0.1143	10	0.35671	T	0.21	-32.6291	18.1041	0.89515	0.0:1.0:0.0:0.0	.	245	Q9P258	RCC2_HUMAN	I	245	ENSP00000364585:S245I;ENSP00000364582:S245I	ENSP00000364582:S245I	S	-	2	0	RCC2	17621296	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.253000	0.43205	2.711000	0.92665	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	1	0	1	59	531	0	92	1	9.999991e-01	19	161	0	92	2		0	0	0	0	0	2	1	1	59	513	0	91	2								-18.035510	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.930000	0.770000	1.000000	0.990000	0.926712	0.930000	1	8.600000e-01	9.900000e-01
RCC2	55920	broad.mit.edu	37	1	17749218	17749218	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17749218T>G	ENST00000375436.4	-	5	825	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2			17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			GGCCAAGGTGTGGTTCCGCCC	0.602000																								0							SO:0001583	missense			ENST00000375436.4	1	1	hg19	CCDS181.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150176	0.78001	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.92048	-2.96;-2.96	5.1	5.1	0.69264	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	H	0.98466	4.24	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98922	1.0784	10	0.87932	D	0	-27.7457	14.0094	0.64486	0.0:0.0:0.0:1.0	.	213	Q9P258	RCC2_HUMAN	P	213	ENSP00000364585:H213P;ENSP00000364582:H213P	ENSP00000364582:H213P	H	-	2	0	RCC2	17621805	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.884000	0.87274	2.059000	0.61396	0.454000	0.30748	CAC		TCGA-IB-7651-01A-11D-2154-08	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	1	0	1	47	258	0	58	1	1	71	173	0	58	2		0	0	0	0	0	2	1	1	47	254	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.962640	0.960000	1	9.200000e-01	1
SEC16B	89866	broad.mit.edu	37	1	177913771	177913771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177913771C>T	ENST00000308284.6	-	15	1895	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)			35					TCTGGATTGCCTCAGTTGTTG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000308284.6	1	1	hg19	CCDS44281.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	1	0	1	166	584	0	134	1	9.997152e-01	23	21	0	134	2		0	0	0	0	0	2	1	1	166	577	0	129	2								-4.377510	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC16B	89866	broad.mit.edu	37	1	177930826	177930826	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177930826G>A	ENST00000308284.6	-	6	775	c.686C>T	c.(685-687)tCt>tTt	p.S229F	SEC16B_ENST00000464631.2_Missense_Mutation_p.S229F|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)			35					GCTGAGACCAGACTCACGCTG	0.512000																								0							SO:0001583	missense			ENST00000308284.6	1	1	hg19	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297096	0.81025	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.50813	2.31;0.73	5.79	5.79	0.91817	.	0.086330	0.51477	D	0.000092	T	0.59595	0.2205	M	0.66939	2.045	0.49687	D	0.999813	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.55923	0.787;0.771;0.771	T	0.52866	-0.8518	10	0.11485	T	0.65	-13.7531	17.8165	0.88635	0.0:0.0:1.0:0.0	.	229;229;229	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	F	229	ENSP00000308339:S229F;ENSP00000431727:S229F	ENSP00000308339:S229F	S	-	2	0	AL359075.1	176197449	1.000000	0.71417	0.985000	0.45067	0.640000	0.38277	4.685000	0.61693	2.731000	0.93534	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	1	0	1	33	173	0	49	1	9.872848e-01	9	30	0	49	2		0	0	0	0	0	2	1	1	33	168	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178408655C>A	ENST00000462775.1	+	4	454	c.329C>A	c.(328-330)cCt>cAt	p.P110H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000448150.3_Missense_Mutation_p.P240H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2			54					AGAGGGGAACCTGTATCAGTG	0.433000																								0							SO:0001583	missense			ENST00000462775.1	1	1	hg19	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345162	0.41498	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;D;D	0.93366	-3.21;-3.21;-3.21	6.17	6.17	0.99709	Pleckstrin homology domain (1);	0.247592	0.38164	N	0.001796	D	0.88138	0.6356	N	0.22421	0.69	0.28191	N	0.927767	B;P	0.44946	0.375;0.846	B;B	0.41202	0.139;0.35	D	0.85085	0.0948	10	0.72032	D	0.01	.	11.4783	0.50310	0.2266:0.6573:0.116:0.0	.	110;258	Q9UJF2;F8W755	NGAP_HUMAN;.	H	240;258;110	ENSP00000407768:P240H;ENSP00000356621:P258H;ENSP00000420558:P110H	ENSP00000356621:P258H	P	+	2	0	RASAL2	176675278	0.996000	0.38824	0.974000	0.42286	0.684000	0.39900	3.478000	0.53158	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	1	43	364	0	62	0	9.942202e-01	1	68	0	62	2		0	0	0	0	0	2	1	1	43	355	0	62	2								-3.318794	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998661	0.990000	1	9.900000e-01	1
RASAL2	9462	broad.mit.edu	37	1	178425861	178425861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178425861C>T	ENST00000462775.1	+	11	1919	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	RASAL2_ENST00000367649.3_Silent_p.T739T|RASAL2_ENST00000448150.3_Silent_p.T728T	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2			54					TACAGGCGACCGTGGCAAAAT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000462775.1	1	1	hg19	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	4.747	0.138821	0.09083	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.04	0.19	0.15125	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23154	-1.0196	4	.	.	.	.	3.425	0.07408	0.1192:0.5236:0.1172:0.24	.	.	.	.	C	149	.	.	R	+	1	0	RASAL2	176692484	0.808000	0.29022	0.992000	0.48379	0.931000	0.56810	-0.119000	0.10676	0.117000	0.18138	-0.136000	0.14681	CGT		TCGA-IB-7651-01A-11D-2154-08	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	0	116	1556	0	272	0	9.252620e-01	1	59	0	272	2		0	0	0	0	0	2	1	1	109	1523	0	272	2								-3.017764	1	1	121412	1	42	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.880000	0.730000	1.000000	1.000000	0.886806	0.880000	1	8.000000e-01	9.700000e-01
RASAL2	9462	broad.mit.edu	37	1	178427268	178427268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178427268C>T	ENST00000462775.1	+	12	2543	c.2418C>T	c.(2416-2418)aaC>aaT	p.N806N	RASAL2_ENST00000367649.3_Silent_p.N947N|RASAL2_ENST00000448150.3_Silent_p.N936N	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2			54					GTTTGGAGAACCTAAGCACTG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000462775.1	1	1	hg19	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134370	0.09032	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.31	4.4	0.53042	.	.	.	.	.	T	0.59088	0.2168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56456	-0.7976	4	.	.	.	.	8.6916	0.34271	0.0:0.7721:0.0:0.2279	.	.	.	.	S	357	.	.	P	+	1	0	RASAL2	176693891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.275000	0.43399	1.235000	0.43724	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	1	109	351	0	98	1	1	8	74	0	98	2		0	0	0	0	0	2	1	1	106	345	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASAL2	9462	broad.mit.edu	37	1	178442279	178442279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442279C>T	ENST00000462775.1	+	16	3450	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W	RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W|RASAL2_ENST00000448150.3_Missense_Mutation_p.R1239W	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)		54					AGTGAAGGAGCGGTACAGCAT	0.537000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000462775.1	1	1	hg19	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755894|4.755894	0.89843|0.89843	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000367647|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46092|0.46092	0.1375|0.1375	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.919	.|D;B	.|0.91635	.|0.999;0.27	T|T	0.37865|0.37865	-0.9687|-0.9687	6|10	0.87932|0.87932	D|D	0|0	.|.	19.635|19.635	0.95728|0.95728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1109;1250	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|W	62|1239;1250;1109	.|ENSP00000407768:R1239W;ENSP00000356621:R1250W;ENSP00000420558:R1109W	ENSP00000356619:A62V|ENSP00000356621:R1250W	A|R	+|+	2|1	0|2	RASAL2|RASAL2	176708902|176708902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.711000|7.711000	0.84669|0.84669	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	1	81	436	0	104	1	9.999991e-01	13	95	0	104	2		0	0	0	0	0	2	1	1	79	426	0	102	2								-20.000000	1	0	121412	3	38	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASAL2	9462	broad.mit.edu	37	1	178442331	178442331	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442331T>G	ENST00000462775.1	+	16	3502	c.3377T>G	c.(3376-3378)cTt>cGt	p.L1126R	RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R|RASAL2_ENST00000448150.3_Missense_Mutation_p.L1256R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2			54					CCCACCAAGCTTTCCATCACG	0.537000																								0							SO:0001583	missense			ENST00000462775.1	1	1	hg19	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.89|18.89	3.719691|3.719691	0.68844|0.68844	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.26660	.|1.72;1.72;1.73	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48429|0.48429	0.1499|0.1499	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.42155|0.42155	-0.9468|-0.9468	5|10	.|0.46703	.|T	.|0.11	.|.	14.7884|14.7884	0.69821|0.69821	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1126;1267	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|R	687|1256;1267;1126	.|ENSP00000407768:L1256R;ENSP00000356621:L1267R;ENSP00000420558:L1126R	.|ENSP00000356621:L1267R	F|L	+|+	1|2	0|0	RASAL2|RASAL2	176708954|176708954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.930000|7.930000	0.87610|0.87610	2.170000|2.170000	0.68504|0.68504	0.482000|0.482000	0.46254|0.46254	TTT|CTT		TCGA-IB-7651-01A-11D-2154-08	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	1	0	1	112	318	0	93	1	1	10	89	0	93	2		0	0	0	0	0	2	1	1	111	311	0	91	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGPS2	55103	broad.mit.edu	37	1	178858792	178858792	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178858792C>A	ENST00000367635.3	+	14	1546	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2			29					AGCGATGGTTCTGAACTAAGT	0.303000																								0							SO:0001583	missense			ENST00000367635.3	1	1	hg19	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.428166|4.428166	0.83667|0.83667	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.28454	.|1.73;1.79;1.61	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55924|0.55924	0.1951|0.1951	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|P;D	.|0.72982	.|0.898;0.979	T|T	0.56866|0.56866	-0.7908|-0.7908	5|10	.|0.62326	.|D	.|0.03	.|.	18.8902|18.8902	0.92397|0.92397	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|403;403	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	M|Y	20|403;403;368;52	.|ENSP00000356607:S403Y;ENSP00000356606:S403Y;ENSP00000313613:S368Y	.|ENSP00000313613:S368Y	L|S	+|+	1|2	2|0	RALGPS2|RALGPS2	177125415|177125415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.479000|7.479000	0.81095|0.81095	2.558000|2.558000	0.86282|0.86282	0.460000|0.460000	0.39030|0.39030	CTG|TCT		TCGA-IB-7651-01A-11D-2154-08	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	1	0	1	148	457	0	121	1	9.999717e-01	28	21	0	121	2		0	0	0	0	0	2	1	1	145	450	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGPS2	55103	broad.mit.edu	37	1	178871296	178871296	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178871296C>A	ENST00000367635.3	+	18	1918	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2			29					GTGATGATGGCTGATGACCCT	0.393000																								0							SO:0001583	missense			ENST00000367635.3	1	1	hg19	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.642959|4.642959	0.87859|0.87859	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251|ENST00000367632	T;T;T|.	0.80738|.	-1.41;-1.41;-1.41|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68550|0.68550	0.3013|0.3013	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;P|.	0.43352|.	0.08;0.804|.	B;B|.	0.44315|.	0.017;0.446|.	T|T	0.63233|0.63233	-0.6683|-0.6683	10|5	0.36615|.	T|.	0.2|.	.|.	19.4161|19.4161	0.94700|0.94700	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	501;527|.	B7Z7B1;Q86X27|.	.;RGPS2_HUMAN|.	D|M	527;501;492;176|118	ENSP00000356607:A527D;ENSP00000356606:A501D;ENSP00000313613:A492D|.	ENSP00000313613:A492D|.	A|L	+|+	2|1	0|2	RALGPS2|RALGPS2	177137919|177137919	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	1	0	1	69	347	0	63	1	9.997346e-01	17	46	0	63	2		0	0	0	0	0	2	1	1	68	341	0	62	2								-3.240541	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM20B	9917	broad.mit.edu	37	1	179033100	179033100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179033100C>T	ENST00000263733.4	+	5	949	c.613C>T	c.(613-615)Cga>Tga	p.R205*		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B			14					CTATTACTGCCGAGAAACAGA	0.458000																								0							SO:0001587	stop_gained			ENST00000263733.4	0	1	hg19	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	C	39	7.452622	0.98292	.	.	ENSG00000116199	ENST00000263733	.	.	.	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-28.6331	15.266	0.73663	0.1414:0.8586:0.0:0.0	.	.	.	.	X	205	.	ENSP00000263733:R205X	R	+	1	2	FAM20B	177299723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.628000	0.54259	1.203000	0.43233	-0.182000	0.12963	CGA		TCGA-IB-7651-01A-11D-2154-08	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	0	0	0	18	672	0	94	0	7.856944e-01	0	110	0	94	2		0	0	0	0	0	2	1	9.999760e-01	17	652	0	94	2								-2.445241	0	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.330000	0.200000	0.510000	0.330000	0.348822	0.330000	0	2.600000e-01	4.200000e-01
ABL2	27	broad.mit.edu	37	1	179078040	179078040	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179078040A>T	ENST00000502732.1	-	12	2565	c.2362T>A	c.(2362-2364)Tcc>Acc	p.S788T	ABL2_ENST00000504405.1_Intron|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase			65				Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCCCTGAGGACATGGAAGAT	0.507000			T	ETV6	AML										Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0							SO:0001583	missense			ENST00000502732.1	1	1	hg19	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473385	0.43942	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000512653;ENST00000367623	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.79	5.79	0.91817	.	0.000000	0.46145	D	0.000319	T	0.13030	0.0316	L	0.27053	0.805	0.53688	D	0.999976	P;P;P;B	0.49559	0.925;0.653;0.925;0.397	P;B;P;B	0.47162	0.54;0.328;0.54;0.155	T	0.01352	-1.1377	10	0.72032	D	0.01	.	15.3166	0.74085	1.0:0.0:0.0:0.0	.	767;788;773;752	P42684-6;P42684;P42684-3;D1MPS6	.;ABL2_HUMAN;.;.	T	788;752;773;767	ENSP00000427562:S788T;ENSP00000386152:S752T;ENSP00000423578:S773T;ENSP00000356595:S767T	ENSP00000356595:S767T	S	-	1	0	ABL2	177344663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.024000	0.70857	2.207000	0.71202	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	1	0	1	159	476	0	113	1	9.922564e-01	5	20	0	113	2		0	0	0	0	0	2	1	1	155	468	0	113	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF10L	55160	broad.mit.edu	37	1	17945899	17945899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17945899C>A	ENST00000361221.3	+	10	1060	c.901C>A	c.(901-903)Cca>Aca	p.P301T	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like			43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			GCCCCCAGCCCCAGAGCTGGG	0.662000																								0							SO:0001583	missense			ENST00000361221.3	1	1	hg19	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750029	0.69533	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.64803	0.23;0.33;0.07;0.33;-0.12;-0.05;2.14	4.75	4.75	0.60458	Dbl homology (DH) domain (1);	0.067931	0.64402	D	0.000013	T	0.68128	0.2967	L	0.39898	1.24	0.40256	D	0.978126	D;P;D;P;P;D;D;D	0.65815	0.983;0.952;0.995;0.939;0.918;0.982;0.99;0.982	P;P;D;P;P;P;P;P	0.66847	0.806;0.703;0.947;0.494;0.558;0.864;0.878;0.758	T	0.71119	-0.4685	10	0.66056	D	0.02	-23.3795	10.0588	0.42261	0.0:0.9064:0.0:0.0936	.	79;59;301;79;67;262;262;301	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	T	301;262;301;262;59;79;79;79	ENSP00000355060:P301T;ENSP00000399401:P262T;ENSP00000394621:P301T;ENSP00000364564:P262T;ENSP00000364569:P59T;ENSP00000364557:P79T;ENSP00000167825:P79T	ENSP00000167825:P79T	P	+	1	0	ARHGEF10L	17818486	0.993000	0.37304	0.998000	0.56505	0.985000	0.73830	3.486000	0.53215	2.203000	0.70933	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	1	0	0	11	106	0	23	1	9.291573e-01	3	44	0	23	2		0	0	0	0	0	2	1	9.982976e-01	11	102	0	23	2								-16.835300	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.810000	0.480000	0.990000	0.940000	0.802189	0.810000	0	6.500000e-01	9.500000e-01
NPHS2	7827	broad.mit.edu	37	1	179533830	179533830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179533830C>T	ENST00000367615.4	-	2	441	c.373G>A	c.(373-375)Gta>Ata	p.V125I	NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	p.V125L(1)		20					CTCACCTTTACGCAGAACCAG	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367615.4	1	1	hg19	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.617261	0.00828	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99470	-5.96;-5.96	5.46	-2.94	0.05581	.	0.267536	0.43416	N	0.000575	D	0.92404	0.7589	N	0.01228	-0.945	0.29344	N	0.86585	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	D	0.91621	0.5311	10	0.02654	T	1	-5.093	4.5848	0.12277	0.2438:0.3541:0.0:0.4022	.	125;125	Q9NP85-2;Q9NP85	.;PODO_HUMAN	I	125	ENSP00000356587:V125I;ENSP00000356588:V125I	ENSP00000356587:V125I	V	-	1	0	NPHS2	177800453	0.998000	0.40836	0.957000	0.39632	0.008000	0.06430	0.215000	0.17562	-0.887000	0.03961	-2.580000	0.00168	GTA		TCGA-IB-7651-01A-11D-2154-08	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1	1	0	1	46	235	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	44	234	0	58	2								-19.999880	1	1	121412	3	35	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TDRD5	163589	broad.mit.edu	37	1	179564779	179564779	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179564779G>A	ENST00000367614.1	+	4	1016	c.657G>A	c.(655-657)caG>caA	p.Q219Q	TDRD5_ENST00000294848.8_Silent_p.Q219Q|TDRD5_ENST00000444136.1_Silent_p.Q219Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5			77					TTTTTACCCAGCCATTTAGAA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000367614.1	1	1	hg19	CCDS1332.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	1	0	0	88	250	0	64	0	6.868344e-02	0	2	0	64	2		0	0	0	0	0	2	1	1	86	243	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TDRD5	163589	broad.mit.edu	37	1	179638537	179638537	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179638537C>A	ENST00000367614.1	+	16	3055	c.2696C>A	c.(2695-2697)tCt>tAt	p.S899Y	TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y|TDRD5_ENST00000444136.1_Missense_Mutation_p.S953Y	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5			77					CCCTCTGGTTCTGGTATGTTT	0.443000																								0							SO:0001583	missense			ENST00000367614.1	1	1	hg19	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	4.097	0.016016	0.07959	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34472	2.51;2.51;2.76;1.36	5.5	3.41	0.39046	.	0.791726	0.11065	N	0.603555	T	0.30854	0.0778	L	0.54323	1.7	0.28561	N	0.91114	B;B	0.33212	0.402;0.28	B;B	0.29716	0.106;0.049	T	0.33929	-0.9849	10	0.72032	D	0.01	-4.5519	5.5792	0.17241	0.0:0.7273:0.0:0.2727	.	953;899	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Y	899;899;953;409	ENSP00000356586:S899Y;ENSP00000294848:S899Y;ENSP00000406052:S953Y;ENSP00000410744:S409Y	ENSP00000294848:S899Y	S	+	2	0	TDRD5	177905160	1.000000	0.71417	0.938000	0.37757	0.029000	0.11900	1.229000	0.32600	1.324000	0.45282	-0.143000	0.13931	TCT		TCGA-IB-7651-01A-11D-2154-08	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	1	0	0	59	295	0	60	1	3.354210e-01	4	3	0	60	2		0	0	0	0	0	2	1	1	57	289	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM163A	148753	broad.mit.edu	37	1	179782952	179782952	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179782952C>T	ENST00000341785.4	+	5	528	c.132C>T	c.(130-132)gaC>gaT	p.D44D	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A			15					AGGTTGCAGACGAGGAGGAGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000341785.4	1	1	hg19	CCDS1333.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	0	0	1	90	271	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	86	260	0	49	2								-5.219293	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOR1AIP2	163590	broad.mit.edu	37	1	179820358	179820358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179820358C>A	ENST00000367612.3	-	4	562	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.E59*	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2			18					TCTGGACCTTCTGTCTCTACC	0.448000																								0							SO:0001587	stop_gained			ENST00000367612.3	0	1	hg19	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978373	0.74360	.	.	ENSG00000169905	ENST00000367612	.	.	.	5.14	-8.88	0.00789	.	3.756630	0.00582	N	0.000320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	6.5336	9.1746	0.37105	0.1111:0.5317:0.0:0.3572	.	.	.	.	X	59	.	ENSP00000356584:E59X	E	-	1	0	TOR1AIP2	178086981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.196000	0.00276	-1.950000	0.01030	-1.423000	0.01107	GAA		TCGA-IB-7651-01A-11D-2154-08	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	1	0	0	89	487	0	99	0	9.739254e-01	1	33	0	99	2		0	0	0	0	0	2	1	1	88	476	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP350	9857	broad.mit.edu	37	1	179983348	179983348	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179983348A>G	ENST00000367607.3	+	10	2178	c.1760A>G	c.(1759-1761)aAa>aGa	p.K587R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa			66					GTTATTTCCAAAAGGCGCCAC	0.443000																								0							SO:0001583	missense			ENST00000367607.3	1	1	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761437	0.89932	.	.	ENSG00000135837	ENST00000367607	D	0.90197	-2.63	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000082	D	0.94850	0.8336	M	0.73598	2.24	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94602	0.7797	9	.	.	.	.	15.7476	0.77958	1.0:0.0:0.0:0.0	.	587;587	E7EU22;Q5VT06	.;CE350_HUMAN	R	587	ENSP00000356579:K587R	.	K	+	2	0	CEP350	178249971	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.810000	0.75216	2.251000	0.74343	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	1	18	51	0	17	1	9.987416e-01	12	24	0	17	2		0	0	0	0	0	2	1	9.999926e-01	18	50	0	17	2								-16.089940	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP350	9857	broad.mit.edu	37	1	180017679	180017679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180017679G>A	ENST00000367607.3	+	22	5049	c.4631G>A	c.(4630-4632)aGt>aAt	p.S1544N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa			66					AGAAGTAGCAGTGGTAGCAGC	0.348000																								0							SO:0001583	missense			ENST00000367607.3	1	1	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237742	0.79800	.	.	ENSG00000135837	ENST00000367607	T	0.57752	0.38	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000090	T	0.61311	0.2337	L	0.29908	0.895	0.80722	D	1	D;P	0.63880	0.993;0.932	D;P	0.70227	0.968;0.476	T	0.57516	-0.7798	9	.	.	.	.	17.271	0.87102	0.0:0.0:1.0:0.0	.	1544;1544	E7EU22;Q5VT06	.;CE350_HUMAN	N	1544	ENSP00000356579:S1544N	.	S	+	2	0	CEP350	178284302	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.413000	0.66399	2.611000	0.88343	0.563000	0.77884	AGT		TCGA-IB-7651-01A-11D-2154-08	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	1	32	207	0	62	1	9.894106e-01	8	41	0	62	2		0	0	0	0	0	2	1	1	32	204	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999918	0.990000	1	9.900000e-01	1
CEP350	9857	broad.mit.edu	37	1	180022124	180022124	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180022124A>G	ENST00000367607.3	+	23	5230	c.4812A>G	c.(4810-4812)acA>acG	p.T1604T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa			66					CTATTGCAACAGAATATTCTC	0.323000																								0							SO:0001819	synonymous_variant			ENST00000367607.3	1	1	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	0.266	-0.996455	0.02145	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.62	3.13	0.36017	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	7.3946	0.26929	0.6782:0.1222:0.0:0.1995	.	.	.	.	G	244	.	.	R	+	1	2	CEP350	178288747	0.992000	0.36948	1.000000	0.80357	0.039000	0.13416	0.374000	0.20501	1.035000	0.39972	-0.323000	0.08544	AGA		TCGA-IB-7651-01A-11D-2154-08	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	1	0	1	42	164	0	40	1	9.982280e-01	11	30	0	40	2		0	0	0	0	0	2	1	1	41	162	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QSOX1	5768	broad.mit.edu	37	1	180155237	180155237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180155237C>T	ENST00000367602.3	+	8	1011	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	QSOX1_ENST00000367600.5_Missense_Mutation_p.R313W			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	p.R313W(1)		31					CTACATCCTGCGGATAGAAGT	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367602.3	1	1	hg19	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449011	0.84101	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.17528	3.46;2.27	5.39	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	M	0.87900	2.915	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.924;1.0	T	0.51803	-0.8659	10	0.59425	D	0.04	-23.017	13.817	0.63299	0.1539:0.8461:0.0:0.0	.	313;313;313	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	W	313	ENSP00000356574:R313W;ENSP00000356572:R313W	ENSP00000356572:R313W	R	+	1	2	QSOX1	178421860	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	1.971000	0.40530	2.518000	0.84900	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	1	0	1	35	359	0	62	1	1	207	1630	0	62	2		0	0	0	0	0	2	1	1	34	345	0	62	2								-2.879461	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.810000	1.000000	1.000000	0.981120	0.990000	1	9.600000e-01	1
ARHGEF10L	55160	broad.mit.edu	37	1	18023551	18023551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18023551C>T	ENST00000361221.3	+	29	3675	c.3516C>T	c.(3514-3516)ctC>ctT	p.L1172L	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L875L|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000375408.3_Silent_p.L945L|ARHGEF10L_ENST00000452522.1_Silent_p.L1133L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like			43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			AGGGCATCCTCTTGCAGTACC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000361221.3	1	1	hg19	CCDS182.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	1	0	1	30	82	0	17	1	9.997909e-01	8	33	0	17	2		0	0	0	0	0	2	1	1	30	81	0	17	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.962399	0.960000	1	9.200000e-01	1
XPR1	9213	broad.mit.edu	37	1	180772672	180772672	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180772672A>C	ENST00000367590.4	+	4	570	c.372A>C	c.(370-372)caA>caC	p.Q124H	XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1			35					AACGTGTCCAACATAGAAATA	0.438000																								0							SO:0001583	missense			ENST00000367590.4	1	1	hg19	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813707	0.50527	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.45276	0.9	5.93	3.63	0.41609	SPX, N-terminal (2);	0.105520	0.64402	D	0.000004	T	0.24661	0.0598	N	0.17379	0.485	0.49213	D	0.999762	B;B	0.18310	0.027;0.009	B;B	0.19666	0.026;0.014	T	0.04400	-1.0954	10	0.33141	T	0.24	-10.9566	7.4345	0.27148	0.6443:0.0:0.3557:0.0	.	124;124	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	H	124	ENSP00000356562:Q124H	ENSP00000356561:Q124H	Q	+	3	2	XPR1	179039295	0.566000	0.26618	1.000000	0.80357	0.990000	0.78478	-0.162000	0.10012	0.510000	0.28216	0.482000	0.46254	CAA		TCGA-IB-7651-01A-11D-2154-08	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	0	0	1	178	549	0	133	1	9.999997e-01	14	53	0	133	2		0	0	0	0	0	2	1	1	175	535	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPR1	9213	broad.mit.edu	37	1	180793991	180793991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180793991C>T	ENST00000367590.4	+	8	1064	c.866C>T	c.(865-867)aCg>aTg	p.T289M	XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1			35					GGCATCAACACGTATGGTTGG	0.388000																								0							SO:0001583	missense			ENST00000367590.4	1	1	hg19	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365427	0.61513	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42131	0.98;0.98	5.65	5.65	0.86999	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.28192	0.835	0.80722	D	1	P;P	0.46457	0.878;0.472	B;B	0.40901	0.343;0.094	T	0.08066	-1.0740	10	0.37606	T	0.19	-6.6435	19.315	0.94208	0.0:1.0:0.0:0.0	.	289;289	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	M	289	ENSP00000356562:T289M;ENSP00000356561:T289M	ENSP00000356561:T289M	T	+	2	0	XPR1	179060614	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	7.338000	0.79269	2.665000	0.90641	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	1	0	1	79	242	0	57	1	1	25	70	0	57	2		0	0	0	0	0	2	1	1	76	240	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPR1	9213	broad.mit.edu	37	1	180794394	180794394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180794394G>A	ENST00000367590.4	+	9	1246	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	XPR1_ENST00000367589.3_Missense_Mutation_p.A350T|AL590085.1_ENST00000579998.1_RNA	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1			35					GTATCCACTTGCCCTTTATGG	0.433000																								0							SO:0001583	missense			ENST00000367590.4	1	1	hg19	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981401	0.34942	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.42900	0.96;0.96	5.52	5.52	0.82312	EXS, C-terminal (1);	0.344782	0.32093	N	0.006588	T	0.32585	0.0834	L	0.39566	1.225	0.33990	D	0.649014	B;B	0.22146	0.006;0.065	B;B	0.25759	0.025;0.063	T	0.40942	-0.9536	10	0.37606	T	0.19	-0.4905	7.5937	0.28035	0.2017:0.0:0.7983:0.0	.	350;350	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	T	350	ENSP00000356562:A350T;ENSP00000356561:A350T	ENSP00000356561:A350T	A	+	1	0	XPR1	179061017	0.857000	0.29778	0.997000	0.53966	0.995000	0.86356	2.800000	0.47900	2.587000	0.87381	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	1	0	1	214	599	0	136	1	1	28	53	0	136	2		0	0	0	0	0	2	1	1	213	590	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPR1	9213	broad.mit.edu	37	1	180849411	180849411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180849411C>T	ENST00000367590.4	+	14	2206	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1			35					CATATCCCTGCGCCGGCCTCG	0.473000																								0							SO:0001583	missense			ENST00000367590.4	1	1	hg19	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272115	0.80469	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48201	0.82	5.56	4.64	0.57946	.	0.047493	0.85682	N	0.000000	T	0.50905	0.1643	L	0.50333	1.59	0.47476	D	0.99943	P;D	0.60160	0.95;0.987	P;B	0.49047	0.599;0.394	T	0.55192	-0.8179	10	0.56958	D	0.05	-2.4789	14.6826	0.69028	0.0:0.9285:0.0:0.0715	.	605;670	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	C	670;605	ENSP00000356562:R670C	ENSP00000356561:R605C	R	+	1	0	XPR1	179116034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.988000	0.49386	1.461000	0.47929	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	1	0	1	95	287	0	83	1	1	41	111	0	83	2		0	0	0	0	0	2	1	1	95	279	0	83	2								-20.000000	1	1	121412	8	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1614	57710	broad.mit.edu	37	1	180886166	180886166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180886166C>T	ENST00000367588.4	+	2	982	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614			33					AGATGCTCAACGTTTCTGGGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000367588.4	1	1	hg19	CCDS41442.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	1	0	0	61	261	0	42	0	2.446564e-01	0	5	0	42	2		0	0	0	0	0	2	1	1	60	254	0	42	2								-20.000000	1	1	120926	6	36	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1614	57710	broad.mit.edu	37	1	180904329	180904329	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904329C>T	ENST00000367588.4	+	5	1339	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	KIAA1614_ENST00000367587.1_Silent_p.S49S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614			33					GGCACACGAGCGATTCCTCCA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000367588.4	1	1	hg19	CCDS41442.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	1	0	1	20	76	0	15	0	2.059029e-01	0	4	0	15	2		0	0	0	0	0	2	1	9.999980e-01	20	76	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
KIAA1614	57710	broad.mit.edu	37	1	180904637	180904637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904637G>A	ENST00000367588.4	+	5	1647	c.1592G>A	c.(1591-1593)gGc>gAc	p.G531D	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G152D	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614			33					CCGGCACCGGGCAGCGAGAGG	0.756000																								0							SO:0001583	missense			ENST00000367588.4	0	1	hg19	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	g	8.543	0.873767	0.17322	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.22743	2.48;1.94	4.82	-0.878	0.10617	.	1.322710	0.05186	N	0.502289	T	0.10594	0.0259	L	0.28274	0.84	0.25097	N	0.990811	B	0.11235	0.004	B	0.09377	0.004	T	0.22906	-1.0203	9	0.06494	T	0.89	-3.6239	1.1462	0.01776	0.4344:0.263:0.1516:0.151	.	531	Q5VZ46	K1614_HUMAN	D	531;152	ENSP00000356560:G531D;ENSP00000356559:G152D	ENSP00000356559:G152D	G	+	2	0	KIAA1614	179171260	0.000000	0.05858	0.002000	0.10522	0.093000	0.18481	0.013000	0.13310	-0.270000	0.09285	0.457000	0.33378	GGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	1	0	0	11	59	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.985734e-01	11	57	0	7	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998601	0.990000	1	9.900000e-01	1
KIAA1614	57710	broad.mit.edu	37	1	180905169	180905169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180905169G>T	ENST00000367588.4	+	5	2179	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614			33					AAGATGCCAAGCCTCCTGACC	0.572000																								0							SO:0001583	missense			ENST00000367588.4	1	1	hg19	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120431	0.37436	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25085	2.4;1.82	4.1	1.11	0.20524	.	0.967631	0.08516	N	0.934229	T	0.15305	0.0369	L	0.27053	0.805	0.22745	N	0.998786	B	0.24258	0.1	B	0.17433	0.018	T	0.30179	-0.9987	9	0.39692	T	0.17	-4.2637	3.0132	0.06051	0.1042:0.1763:0.5377:0.1818	.	708	Q5VZ46	K1614_HUMAN	N	708;329	ENSP00000356560:K708N;ENSP00000356559:K329N	ENSP00000356559:K329N	K	+	3	2	KIAA1614	179171792	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.504000	0.22626	0.045000	0.15804	-1.086000	0.02197	AAG		TCGA-IB-7651-01A-11D-2154-08	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	1	0	1	142	627	0	129	0	2.331219e-01	0	5	0	129	2		0	0	0	0	0	2	1	1	141	613	0	127	2								-20.000000	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MR1	3140	broad.mit.edu	37	1	181003204	181003204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181003204G>A	ENST00000367580.5	+	1	66	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MR1_ENST00000434571.2_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.D21N|MR1_ENST00000282990.6_Missense_Mutation_p.D21N	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related			18				Antithymocyte globulin(DB00098)	GAAGCACAGCGATTCCCGTGA	0.453000													Colon(174;1412 1962 45296 46549 47110)											0							SO:0001583	missense			ENST00000367580.5	1	1	hg19	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733194	0.15574	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.00932	6.12;6.01;5.87;5.53	3.64	-3.93	0.04143	.	1.619240	0.03737	N	0.254405	T	0.00784	0.0026	L	0.31065	0.9	0.21290	N	0.999739	B;B;P;B;B	0.46327	0.002;0.002;0.876;0.001;0.001	B;B;B;B;B	0.34652	0.001;0.001;0.187;0.001;0.001	T	0.51371	-0.8714	9	0.23891	T	0.37	.	7.6435	0.28307	0.6424:0.1687:0.189:0.0	.	21;21;21;21;21	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	N	21	ENSP00000388504:D21N;ENSP00000356552:D21N;ENSP00000282990:D21N;ENSP00000356551:D21N	ENSP00000282990:D21N	D	+	1	0	MR1	179269827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.433000	0.06948	-0.986000	0.03498	-1.578000	0.00866	GAT		TCGA-IB-7651-01A-11D-2154-08	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	1	0	1	32	176	0	44	0	9.991143e-01	0	63	0	44	2		0	0	0	0	0	2	1	1	32	174	0	44	2								-20.000000	1	1	121412	3	36	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
MR1	3140	broad.mit.edu	37	1	181019366	181019366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181019366G>A	ENST00000367580.5	+	3	553	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	MR1_ENST00000434571.2_Missense_Mutation_p.C183Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y|MR1_ENST00000282990.6_Missense_Mutation_p.C183Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related			18				Antithymocyte globulin(DB00098)	GAAGAAGAATGTATTGCCTGG	0.468000													Colon(174;1412 1962 45296 46549 47110)											0							SO:0001583	missense			ENST00000367580.5	1	1	hg19	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472613	0.63737	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.99413	7.85;7.85;7.85;-5.86	4.81	3.87	0.44632	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.64402	D	0.000004	D	0.99635	0.9866	H	0.96805	3.885	0.58432	D	0.999993	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	D	0.98210	1.0472	10	0.87932	D	0	.	10.0672	0.42311	0.1034:0.0:0.8966:0.0	.	183;183;138;183;183	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	Y	183;183;183;138	ENSP00000388504:C183Y;ENSP00000356552:C183Y;ENSP00000282990:C183Y;ENSP00000356551:C138Y	ENSP00000282990:C183Y	C	+	2	0	MR1	179285989	0.998000	0.40836	0.992000	0.48379	0.870000	0.49936	2.947000	0.49058	1.174000	0.42811	0.557000	0.71058	TGT		TCGA-IB-7651-01A-11D-2154-08	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	1	0	1	70	367	0	94	1	9.999985e-01	2	101	0	94	2		0	0	0	0	0	2	1	1	70	361	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MR1	3140	broad.mit.edu	37	1	181021609	181021609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181021609G>A	ENST00000367580.5	+	4	848	c.843G>A	c.(841-843)gaG>gaA	p.E281E	MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.E236E|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related			18				Antithymocyte globulin(DB00098)	GTCATGTGGAGCACTGCGGTG	0.547000													Colon(174;1412 1962 45296 46549 47110)											0							SO:0001819	synonymous_variant			ENST00000367580.5	1	1	hg19	CCDS1342.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	1	0	1	31	237	0	59	0	9.436306e-01	1	38	0	59	2		0	0	0	0	0	2	1	1	30	237	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999044	0.990000	1	9.900000e-01	1
ACTL8	81569	broad.mit.edu	37	1	18149669	18149669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18149669G>A	ENST00000375406.1	+	2	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	p.D56Y(1)		28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			CCTGGGCATCGACATTTGCCA	0.572000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000375406.1	0	1	hg19	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218870	0.95104	.	.	ENSG00000117148	ENST00000375406	D	0.94376	-3.41	4.98	0.75	0.18387	.	0.337294	0.21390	N	0.075327	D	0.87857	0.6283	L	0.43152	1.355	0.21627	N	0.999612	B	0.18968	0.032	B	0.17979	0.02	T	0.79827	-0.1639	10	0.87932	D	0	-46.8186	6.0606	0.19837	0.4579:0.0:0.5421:0.0	.	56	Q9H568	ACTL8_HUMAN	N	56	ENSP00000364555:D56N	ENSP00000364555:D56N	D	+	1	0	ACTL8	18022256	0.999000	0.42202	0.777000	0.31699	0.724000	0.41520	3.131000	0.50515	0.294000	0.22547	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	0	0	0	12	605	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	9.990523e-01	12	597	0	127	2								-2.686492	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.210000	0.110000	0.340000	0.210000	0.222499	0.210000	0	1.500000e-01	2.800000e-01
CACNA1E	777	broad.mit.edu	37	1	181620541	181620541	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181620541T>A	ENST00000367573.2	+	7	1019	c.1019T>A	c.(1018-1020)tTc>tAc	p.F340Y	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					ATTGGATCCTTCTTTGTTCTC	0.438000																								0							SO:0001583	missense			ENST00000367573.2	1	1	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090601	0.76756	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.86420	2.815	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.70487	0.969;0.969	D	0.99418	1.0932	10	0.56958	D	0.05	.	14.8892	0.70594	0.0:0.0:0.0:1.0	.	340;340	Q15878-2;Q15878-3	.;.	Y	340;340;340;291;291;340;340	ENSP00000432038:F340Y;ENSP00000356542:F340Y;ENSP00000434814:F340Y;ENSP00000350183:F291Y;ENSP00000351101:F291Y;ENSP00000353222:F340Y;ENSP00000356545:F340Y	ENSP00000350183:F291Y	F	+	2	0	CACNA1E	179887164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.062000	0.61559	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1	78	438	0	82	0	1.134835e-01	0	4	0	82	2		0	0	0	0	0	2	1	1	78	428	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181687258	181687258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181687258G>A	ENST00000367573.2	+	12	1593	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	CACNA1E_ENST00000367567.4_Silent_p.G138G|CACNA1E_ENST00000526775.1_Silent_p.G531G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000358338.5_Silent_p.G482G|CACNA1E_ENST00000357570.5_Silent_p.G482G|CACNA1E_ENST00000367570.1_Silent_p.G531G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					ATGGCATGGGGCCTCGCCTTT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000367573.2	0	1	hg19	CCDS55664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	0	0	0	33	135	1	35	0	0	0	1	1	35	2		0	0	0	0	0	2	1	9.967162e-01	33	132	1	34	16								-20.000000	1	0	120850	3	30	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181693609	181693609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693609C>T	ENST00000367573.2	+	17	2078	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					ACCCCAGACACGCTACTGAAT	0.463000																								0							SO:0001583	missense			ENST00000367573.2	1	1	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670172	0.67814	0.0	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.56280	1.765	0.58432	D	0.999997	D;D	0.67145	0.996;0.996	P;P	0.57371	0.819;0.819	D	0.99047	1.0826	10	0.62326	D	0.03	.	17.9496	0.89048	0.0:1.0:0.0:0.0	.	693;693	Q15878-2;Q15878-3	.;.	M	693;693;644;644;300;693;693	ENSP00000356542:T693M;ENSP00000434814:T693M;ENSP00000350183:T644M;ENSP00000351101:T644M;ENSP00000356539:T300M;ENSP00000353222:T693M;ENSP00000356545:T693M	ENSP00000350183:T644M	T	+	2	0	CACNA1E	179960232	1.000000	0.71417	0.878000	0.34440	0.861000	0.49209	5.945000	0.70226	2.390000	0.81377	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1	23	79	0	22	0	0	0	1	0	22	2		0	0	0	0	0	2	1	9.999998e-01	23	79	0	22	2								-20.000000	1	0	120908	1	23	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181693628	181693628	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693628G>A	ENST00000367573.2	+	17	2097	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L	CACNA1E_ENST00000367567.4_Silent_p.L306L|CACNA1E_ENST00000526775.1_Silent_p.L699L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000358338.5_Silent_p.L650L|CACNA1E_ENST00000357570.5_Silent_p.L650L|CACNA1E_ENST00000367570.1_Silent_p.L699L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					ATGTGTTCTTGGCTATCGCTG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000367573.2	1	1	hg19	CCDS55664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1	17	79	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	9.999808e-01	17	79	0	19	2								-12.315180	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181701985	181701985	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701985C>T	ENST00000367573.2	+	20	2763	c.2763C>T	c.(2761-2763)agC>agT	p.S921S	CACNA1E_ENST00000367567.4_Silent_p.S528S|CACNA1E_ENST00000526775.1_Silent_p.S902S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000357570.5_Silent_p.S872S|CACNA1E_ENST00000367570.1_Silent_p.S921S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					AACGGCGCAGCCGGCATCGCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000367573.2	1	1	hg19	CCDS55664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1	65	578	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	1	64	569	0	98	2								-19.705130	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999161	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181702155	181702155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181702155C>A	ENST00000367573.2	+	20	2933	c.2933C>A	c.(2932-2934)gCc>gAc	p.A978D	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A959D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	p.A978D(1)		204					GAAGAGAGAGCCCAGGATTTA	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367573.2	1	1	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	5.066	0.197918	0.09652	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96136	-3.85;-3.86;-3.86;-3.86;-3.92;-3.87;-3.86	4.03	1.06	0.20224	.	2.114420	0.03186	U	0.172771	D	0.88418	0.6431	N	0.08118	0	0.09310	N	1	B;B;B	0.21905	0.062;0.005;0.032	B;B;B	0.18871	0.023;0.015;0.023	T	0.79524	-0.1768	10	0.11485	T	0.65	.	9.042	0.36322	0.0:0.3528:0.5552:0.092	.	959;978;978	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	978;959;929;910;585;959;978	ENSP00000356542:A978D;ENSP00000434814:A959D;ENSP00000350183:A929D;ENSP00000351101:A910D;ENSP00000356539:A585D;ENSP00000353222:A959D;ENSP00000356545:A978D	ENSP00000350183:A929D	A	+	2	0	CACNA1E	179968778	0.000000	0.05858	0.009000	0.14445	0.594000	0.36715	-0.289000	0.08365	0.246000	0.21394	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	0	29	174	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	28	171	0	30	2								-3.327913	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999952	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181732641	181732641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181732641C>A	ENST00000367573.2	+	34	4789	c.4789C>A	c.(4789-4791)Ctg>Atg	p.L1597M	CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L1578M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					ACGCATTTTGCTGTGGACCTT	0.498000																								0							SO:0001583	missense			ENST00000367573.2	1	1	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316400	0.81469	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.28	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	D	0.98630	1.0671	10	0.66056	D	0.02	.	13.9604	0.64175	0.0:0.924:0.0:0.076	.	1578;1597;1597	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1597;1578;1548;1529;1204;1578;1597	ENSP00000356542:L1597M;ENSP00000434814:L1578M;ENSP00000350183:L1548M;ENSP00000351101:L1529M;ENSP00000356539:L1204M;ENSP00000353222:L1578M;ENSP00000356545:L1597M	ENSP00000350183:L1548M	L	+	1	2	CACNA1E	179999264	1.000000	0.71417	0.597000	0.28824	0.956000	0.61745	3.673000	0.54591	2.471000	0.83476	0.467000	0.42956	CTG		TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1	33	156	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	1	30	153	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181741352	181741352	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181741352C>T	ENST00000367573.2	+	37	5124	c.5124C>T	c.(5122-5124)ttC>ttT	p.F1708F	CACNA1E_ENST00000367567.4_Silent_p.F1315F|CACNA1E_ENST00000526775.1_Silent_p.F1689F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000357570.5_Silent_p.F1659F|CACNA1E_ENST00000367570.1_Silent_p.F1708F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					CCTTCATCTTCTTCTGCTCCT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000367573.2	1	1	hg19	CCDS55664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	0	190	565	0	124	0	0	0	1	0	124	2		0	0	0	0	0	2	1	1	188	553	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181762906	181762906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181762906C>T	ENST00000367573.2	+	45	6004	c.6004C>T	c.(6004-6006)Cca>Tca	p.P2002S	CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1983S|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1953S|CACNA1E_ENST00000367570.1_Intron	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					ATCTTCTATGCCACGTCTGAC	0.483000																								0							SO:0001583	missense			ENST00000367573.2	1	1	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035955	0.93630	.	.	ENSG00000198216	ENST00000357570;ENST00000360108;ENST00000367573	D;D;D	0.99557	-6.15;-6.15;-6.16	5.8	5.8	0.92144	.	0.264086	0.37623	N	0.002001	D	0.99227	0.9731	L	0.42245	1.32	0.80722	D	1	.	.	.	.	.	.	D	0.99841	1.1062	8	0.62326	D	0.03	.	19.6581	0.95851	0.0:1.0:0.0:0.0	.	.	.	.	S	1953;1983;2002	ENSP00000350183:P1953S;ENSP00000353222:P1983S;ENSP00000356545:P2002S	ENSP00000350183:P1953S	P	+	1	0	CACNA1E	180029529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.347000	0.73004	2.735000	0.93741	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1	22	68	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999996e-01	22	68	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1E	777	broad.mit.edu	37	1	181767892	181767892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181767892C>T	ENST00000367573.2	+	48	6864	c.6864C>T	c.(6862-6864)cgC>cgT	p.R2288R	CACNA1E_ENST00000367567.4_Silent_p.R1852R|CACNA1E_ENST00000526775.1_Silent_p.R2226R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000358338.5_Silent_p.R2177R|CACNA1E_ENST00000357570.5_Silent_p.R2239R|CACNA1E_ENST00000367570.1_Silent_p.R2245R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit			204					GGCGGAGGCGCGGGGGGCCTG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000367573.2	1	1	hg19	CCDS55664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	1	0	1	41	93	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	39	90	0	22	2								-6.147873	1	1	120666	2	29	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF648	127665	broad.mit.edu	37	1	182026331	182026331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026331C>T	ENST00000339948.3	-	2	1022	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648			40					GGCGCCGCCGCGCGTCTCCGC	0.751000													NSCLC(71;908 1374 5429 20458 35642)											0							SO:0001583	missense			ENST00000339948.3	1	1	hg19	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152330	0.06585	.	.	ENSG00000179930	ENST00000339948	T	0.07688	3.17	2.55	-2.26	0.06867	.	.	.	.	.	T	0.01124	0.0037	N	0.00166	-1.94	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41980	-0.9478	9	0.02654	T	1	.	1.1703	0.01824	0.1593:0.2618:0.3501:0.2288	.	272	Q5T619	ZN648_HUMAN	H	272	ENSP00000344129:R272H	ENSP00000344129:R272H	R	-	2	0	ZNF648	180292954	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	0.012000	0.13287	-0.531000	0.06340	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	1	0	0	19	66	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.999921e-01	19	60	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF648	127665	broad.mit.edu	37	1	182026618	182026618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026618C>T	ENST00000339948.3	-	2	735	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648			40					CACTTTTGTGCGCACAGAGAT	0.567000													NSCLC(71;908 1374 5429 20458 35642)											0							SO:0001819	synonymous_variant			ENST00000339948.3	1	1	hg19	CCDS30952.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	1	0	1	44	209	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	43	204	0	37	2								-3.395304	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNASEL	6041	broad.mit.edu	37	1	182555156	182555156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182555156C>A	ENST00000367559.3	-	2	1039	c.786G>T	c.(784-786)gaG>gaT	p.E262D	RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D|RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)			27					TCTCTATGTGCTCTTGCTCCA	0.502000																								0							SO:0001583	missense			ENST00000367559.3	1	1	hg19	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735904	0.30774	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.65732	-0.17;-0.17;-0.17	5.15	-4.82	0.03171	Ankyrin repeat-containing domain (4);	0.914573	0.09413	N	0.805560	T	0.34164	0.0888	N	0.12961	0.28	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.16100	-1.0414	10	0.22109	T	0.4	-4.56	4.0995	0.10007	0.1394:0.5038:0.0876:0.2692	.	262;262;262	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	D	262	ENSP00000356530:E262D;ENSP00000411147:E262D;ENSP00000440844:E262D	ENSP00000356530:E262D	E	-	3	2	RNASEL	180821779	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.075000	0.03423	-0.543000	0.06240	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	1	0	0	41	400	0	73	0	9.008840e-01	0	41	0	73	2		0	0	0	0	0	2	1	1	41	396	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.990738	0.990000	1	9.900000e-01	1
RGS8	85397	broad.mit.edu	37	1	182635136	182635136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182635136G>A	ENST00000483095.2	-	5	418	c.161C>T	c.(160-162)gCa>gTa	p.A54V	RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V|RGS8_ENST00000367556.1_Missense_Mutation_p.A54V			P57771	RGS8_HUMAN	regulator of G-protein signaling 8			5					AAAGGAATCTGCCCACCTCGT	0.408000													Ovarian(189;1262 3804 41973)											0							SO:0001583	missense			ENST00000483095.2	1	1	hg19	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220884	0.58560	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.47	5.47	0.80525	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.058699	0.64402	D	0.000002	T	0.32615	0.0835	L	0.61218	1.895	0.44862	D	0.997874	B;P	0.39424	0.398;0.673	B;B	0.37480	0.047;0.251	T	0.17228	-1.0376	10	0.66056	D	0.02	.	12.5654	0.56306	0.0:0.1673:0.8327:0.0	.	54;72	P57771;P57771-2	RGS8_HUMAN;.	V	54;72;54;54;54	ENSP00000426289:A54V;ENSP00000258302:A72V;ENSP00000356528:A54V;ENSP00000356527:A54V	ENSP00000258302:A72V	A	-	2	0	RGS8	180901759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.191000	0.58372	2.561000	0.86390	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	0	0	1	114	575	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	1	112	568	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX9	1660	broad.mit.edu	37	1	182844012	182844012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182844012C>T	ENST00000367549.3	+	16	1848	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9			49					AGACTGCATTCAGATGACCCA	0.383000													Colon(69;210 1162 3697 13559 39565)											0							SO:0001587	stop_gained			ENST00000367549.3	0	1	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	39	7.829393	0.98513	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.2865	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	580	.	ENSP00000356520:Q580X	Q	+	1	0	DHX9	181110635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.048000	0.76606	2.716000	0.92895	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1	138	423	0	124	1	1	6	237	0	124	2		0	0	0	0	0	2	1	1	134	412	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX9	1660	broad.mit.edu	37	1	182846018	182846018	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182846018T>G	ENST00000367549.3	+	19	2288	c.2178T>G	c.(2176-2178)gtT>gtG	p.V726V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9			49					ACGATGTTGTTTATGTCATTG	0.333000													Colon(69;210 1162 3697 13559 39565)											0							SO:0001819	synonymous_variant			ENST00000367549.3	1	1	hg19	CCDS41444.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1	49	192	0	52	1	1	4	255	0	52	2		0	0	0	0	0	2	1	1	48	186	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX9	1660	broad.mit.edu	37	1	182847247	182847247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182847247C>T	ENST00000367549.3	+	20	2400	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9			49					ACGGAAAGGGCGAGCTGGCCG	0.473000													Colon(69;210 1162 3697 13559 39565)											0							SO:0001587	stop_gained			ENST00000367549.3	0	1	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420901	0.98803	.	.	ENSG00000135829	ENST00000367549	.	.	.	5.78	3.87	0.44632	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.062	0.47953	0.4634:0.4233:0.1132:0.0	.	.	.	.	X	764	.	ENSP00000356520:R764X	R	+	1	2	DHX9	181113870	0.868000	0.29978	0.794000	0.32065	0.971000	0.66376	1.706000	0.37878	0.743000	0.32719	-0.169000	0.13324	CGA		TCGA-IB-7651-01A-11D-2154-08	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1	60	285	0	71	1	1	7	280	0	71	2		0	0	0	0	0	2	1	1	60	281	0	71	2								-3.198232	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX9	1660	broad.mit.edu	37	1	182850546	182850546	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182850546C>T	ENST00000367549.3	+	23	2882	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9			49					TATTCCAAGCCTGGGATGATG	0.403000													Colon(69;210 1162 3697 13559 39565)											0							SO:0001819	synonymous_variant			ENST00000367549.3	1	1	hg19	CCDS41444.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1	70	822	0	140	1	1	70	277	0	140	2		0	0	0	0	0	2	1	1	69	806	0	139	2								-14.977460	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.780000	1.000000	1.000000	0.958943	0.990000	1	8.800000e-01	1
DHX9	1660	broad.mit.edu	37	1	182852411	182852411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182852411C>T	ENST00000367549.3	+	25	3162	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9			49					CACTGAAGGGCGTAATGCACT	0.393000													Colon(69;210 1162 3697 13559 39565)											0							SO:0001583	missense			ENST00000367549.3	1	1	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265194	0.80358	.	.	ENSG00000135829	ENST00000367549	T	0.61742	0.08	5.38	5.38	0.77491	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64877	0.93;0.93	T	0.78529	-0.2169	10	0.72032	D	0.01	.	14.0387	0.64660	0.151:0.849:0.0:0.0	.	297;1018	B3KU66;Q08211	.;DHX9_HUMAN	C	1018	ENSP00000356520:R1018C	ENSP00000356520:R1018C	R	+	1	0	DHX9	181119034	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	4.228000	0.58619	2.501000	0.84356	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	1	0	1	71	318	0	78	1	1	80	154	0	78	2		0	0	0	0	0	2	1	1	70	311	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMC1	3915	broad.mit.edu	37	1	183093910	183093910	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183093910G>A	ENST00000258341.4	+	14	2803	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)			76					ACGGGAGAATGCCTGAAGTGC	0.502000																								0							SO:0001583	missense			ENST00000258341.4	0	1	hg19	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709702	0.89018	.	.	ENSG00000135862	ENST00000258341	D	0.94330	-3.4	5.51	5.51	0.81932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99701	1.1004	10	0.87932	D	0	.	19.0104	0.92871	0.0:0.0:1.0:0.0	.	849	P11047	LAMC1_HUMAN	Y	849	ENSP00000258341:C849Y	ENSP00000258341:C849Y	C	+	2	0	LAMC1	181360533	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	9.135000	0.94478	2.587000	0.87381	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	0	0	0	8	296	0	38	1	9.885806e-01	2	295	0	38	2		0	0	0	0	0	2	1	9.894767e-01	8	295	0	37	2								-8.762991	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.350000	0.160000	0.620000	0.330000	0.371419	0.350000	0	2.400000e-01	4.900000e-01
LAMC1	3915	broad.mit.edu	37	1	183103869	183103869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183103869G>T	ENST00000258341.4	+	23	4181	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)			76					AAGATTATGAGGACCTCAGAG	0.403000																								0							SO:0001583	missense			ENST00000258341.4	0	1	hg19	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527988	0.44969	.	.	ENSG00000135862	ENST00000258341	T	0.77098	-1.07	5.64	1.6	0.23607	.	0.195971	0.53938	N	0.000060	T	0.64560	0.2609	L	0.54323	1.7	0.44295	D	0.997167	B	0.26318	0.146	B	0.24974	0.057	T	0.48864	-0.8997	10	0.17832	T	0.49	.	3.2277	0.06737	0.4213:0.0:0.4006:0.1781	.	1308	P11047	LAMC1_HUMAN	D	1308	ENSP00000258341:E1308D	ENSP00000258341:E1308D	E	+	3	2	LAMC1	181370492	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.490000	0.22403	0.297000	0.22615	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	0	0	0	9	446	0	99	1	9.928090e-01	5	426	0	99	2		0	0	0	0	0	2	1	9.940211e-01	9	441	0	98	2								-2.278233	0	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.260000	0.120000	0.450000	0.240000	0.277317	0.260000	0	1.800000e-01	3.600000e-01
LAMC2	3918	broad.mit.edu	37	1	183194779	183194779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183194779G>T	ENST00000264144.4	+	8	1055	c.990G>T	c.(988-990)caG>caT	p.Q330H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q330H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2			55					GGAGCCCCCAGCTGAGTTACT	0.393000																								0							SO:0001583	missense			ENST00000264144.4	0	1	hg19	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872561	0.33069	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.36699	1.24;1.24	5.06	4.14	0.48551	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.395784	0.24094	N	0.041619	T	0.27205	0.0667	L	0.37630	1.12	0.46260	D	0.99895	B;B;B	0.20550	0.046;0.046;0.037	B;B;B	0.23018	0.043;0.042;0.025	T	0.05784	-1.0864	10	0.35671	T	0.21	.	8.4894	0.33091	0.0775:0.0:0.7704:0.1521	.	330;330;330	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	H	330	ENSP00000432063:Q330H;ENSP00000264144:Q330H	ENSP00000264144:Q330H	Q	+	3	2	LAMC2	181461402	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.743000	0.47442	1.124000	0.41980	-0.136000	0.14681	CAG		TCGA-IB-7651-01A-11D-2154-08	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	0	0	0	13	791	0	134	1	9.961148e-01	17	545	0	134	2		0	0	0	0	0	2	1	9.994828e-01	12	780	0	133	2								-2.720717	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.210000	0.110000	0.340000	0.210000	0.220817	0.210000	0	1.500000e-01	2.800000e-01
LAMC2	3918	broad.mit.edu	37	1	183200178	183200178	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183200178C>T	ENST00000264144.4	+	12	1862	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G	LAMC2_ENST00000493293.1_Silent_p.G599G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2			55					GATTTGGTGGCCCCAACTGTG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000264144.4	1	1	hg19	CCDS1352.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	1	0	1	64	324	0	93	1	1	304	470	0	93	2		0	0	0	0	0	2	1	1	65	312	0	93	2								-3.241186	1	1	121412	3	39	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMC2	3918	broad.mit.edu	37	1	183212466	183212466	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183212466G>A	ENST00000264144.4	+	23	3578	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2			55					CTGATGTGAAGAACTTGGAGA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000264144.4	1	1	hg19	CCDS1352.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	1	0	0	100	365	0	114	1	1	382	712	0	114	2		0	0	0	0	0	2	1	1	98	361	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMG7	9887	broad.mit.edu	37	1	183513549	183513549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183513549C>T	ENST00000347615.2	+	15	2023	c.1904C>T	c.(1903-1905)aCt>aTt	p.T635I	SMG7_ENST00000508461.1_Missense_Mutation_p.T593I|SMG7_ENST00000507469.1_Missense_Mutation_p.T589I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000367537.3_Missense_Mutation_p.T618I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor			46					ACACCTGTAACTCAAACCCCA	0.423000																								0							SO:0001583	missense			ENST00000347615.2	1	1	hg19	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221780	0.79464	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.91	5.91	0.95273	.	0.095984	0.64402	D	0.000001	T	0.64360	0.2591	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.998;0.998;0.999;0.999;0.624	D;D;D;D;D;B	0.80764	0.991;0.987;0.987;0.994;0.991;0.206	T	0.61997	-0.6947	10	0.44086	T	0.13	-4.6888	20.2985	0.98592	0.0:1.0:0.0:0.0	.	593;618;547;589;635;589	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	547;618;593;547;635;589;589	ENSP00000407629:T547I;ENSP00000356507:T618I;ENSP00000426915:T593I;ENSP00000388390:T547I;ENSP00000340766:T635I;ENSP00000425133:T589I;ENSP00000421358:T589I	ENSP00000340766:T635I	T	+	2	0	SMG7	181780172	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.507000	0.66999	2.793000	0.96121	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	1	0	1	140	358	0	93	1	1	43	107	0	93	2		0	0	0	0	0	2	1	1	138	347	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCF2	4688	broad.mit.edu	37	1	183532664	183532664	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183532664C>T	ENST00000367535.3	-	12	1334	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NCF2_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000413720.1_Silent_p.T316T	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2			30				Dextromethorphan(DB00514)	TCATGACTACCGTGTACTTGT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000367535.3	1	1	hg19	CCDS1356.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	1	0	1	109	592	0	136	1	1	4	140	0	136	2		0	0	0	0	0	2	1	1	106	579	0	135	2								-2.341666	0	1	121412	2	40	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCF2	4688	broad.mit.edu	37	1	183546760	183546760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183546760G>T	ENST00000367535.3	-	3	591	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	NCF2_ENST00000367536.1_Missense_Mutation_p.L114I|NCF2_ENST00000418089.1_Missense_Mutation_p.L114I|NCF2_ENST00000413720.1_Missense_Mutation_p.L114I	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2			30				Dextromethorphan(DB00514)	TTGAACTGGAGCCCCAGGATC	0.517000																								0							SO:0001583	missense			ENST00000367535.3	1	1	hg19	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199653	0.79015	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.69040	-0.24;-0.27;-0.37;-0.24	5.56	4.64	0.57946	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.86028	2.79	0.22280	N	0.999237	P;P;P	0.49635	0.925;0.926;0.661	P;P;P	0.57620	0.824;0.471;0.717	T	0.74386	-0.3682	10	0.72032	D	0.01	-8.1757	12.9702	0.58508	0.0:0.0:0.8375:0.1625	.	114;114;114	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	I	114;142;114;114;114	ENSP00000356506:L114I;ENSP00000399294:L114I;ENSP00000407217:L114I;ENSP00000356505:L114I	ENSP00000356505:L114I	L	-	1	0	NCF2	181813383	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.967000	0.76079	1.320000	0.45209	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	1	0	1	66	354	0	81	1	9.999995e-01	3	111	0	81	2		0	0	0	0	0	2	1	1	65	352	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARPC5	10092	broad.mit.edu	37	1	183604754	183604754	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183604754A>G	ENST00000359856.6	-	1	107	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ARPC5_ENST00000462965.1_5'Flank|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A|RGL1_ENST00000536277.1_5'Flank|ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa			4					ATCCACGTCCACCTTCCGGAA	0.632000													Melanoma(136;1596 1789 3041 4830 41075)											0							SO:0001583	missense			ENST00000359856.6	1	1	hg19	CCDS1357.1	.	.	.	.	.	.	.	.	.	.	A	35	5.562476	0.96527	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.85197	2.74	0.58432	D	0.999996	P	0.51653	0.947	P	0.56865	0.808	T	0.82200	-0.0575	9	0.87932	D	0	-25.9632	14.6726	0.68956	1.0:0.0:0.0:0.0	.	14	O15511	ARPC5_HUMAN	A	14	.	ENSP00000294742:V14A	V	-	2	0	ARPC5	181871377	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.656000	0.91102	2.116000	0.64780	0.482000	0.46254	GTG		TCGA-IB-7651-01A-11D-2154-08	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	1	0	1	54	336	0	75	1	1	224	870	0	75	2		0	0	0	0	0	2	1	1	51	332	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RGL1	23179	broad.mit.edu	37	1	183816811	183816811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183816811G>T	ENST00000360851.3	+	3	428	c.250G>T	c.(250-252)Gct>Tct	p.A84S	RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000304685.4_Missense_Mutation_p.A119S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1			51					CCTGCTGACAGCTTTTGGGGA	0.473000																								0							SO:0001583	missense			ENST00000360851.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	28.4	4.913433	0.92178	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.51	5.51	0.81932	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	N	0.16708	0.43	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.87578	0.994;0.998;0.997;0.997	T	0.48614	-0.9020	10	0.21014	T	0.42	.	19.7945	0.96474	0.0:0.0:1.0:0.0	.	84;82;84;119	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	S	119;119;82;84;84	ENSP00000303192:A119S;ENSP00000356501:A119S;ENSP00000438662:A82S;ENSP00000354097:A84S;ENSP00000437355:A84S	ENSP00000303192:A119S	A	+	1	0	RGL1	182083434	1.000000	0.71417	0.884000	0.34674	0.998000	0.95712	9.184000	0.94893	2.746000	0.94184	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	0	0	0	17	739	0	164	0	2.375588e-01	0	39	0	164	2		0	0	0	0	0	2	1	9.999596e-01	17	727	0	162	2								-3.282979	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.290000	0.170000	0.440000	0.280000	0.301812	0.290000	0	2.200000e-01	3.700000e-01
RGL1	23179	broad.mit.edu	37	1	183874037	183874037	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183874037T>G	ENST00000360851.3	+	13	1582	c.1404T>G	c.(1402-1404)taT>taG	p.Y468*	RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000304685.4_Nonsense_Mutation_p.Y503*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1			51					GCAACAGCTATTGCATGACCC	0.448000																								0							SO:0001587	stop_gained			ENST00000360851.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	39	7.588588	0.98374	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	.	.	.	5.52	-5.05	0.02955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1163	0.59301	0.0:0.4481:0.0:0.5519	.	.	.	.	X	503;503;466;273;468;439	.	ENSP00000303192:Y503X	Y	+	3	2	RGL1	182140660	0.937000	0.31787	0.475000	0.27278	0.568000	0.35870	0.027000	0.13621	-1.370000	0.02144	-1.140000	0.01884	TAT		TCGA-IB-7651-01A-11D-2154-08	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	1	0	1	171	476	0	90	0	9.997190e-01	1	35	0	90	2		0	0	0	0	0	2	1	1	169	465	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM129A	116496	broad.mit.edu	37	1	184859344	184859344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:184859344C>A	ENST00000367511.3	-	4	524	c.331G>T	c.(331-333)Gga>Tga	p.G111*		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A			45					GGAGCAGCTCCTCTCTGATAG	0.433000																								0							SO:0001587	stop_gained			ENST00000367511.3	0	1	hg19	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	37	6.386892	0.97524	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.71	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.069	12.7785	0.57464	0.0:0.8357:0.1643:0.0	.	.	.	.	X	111	.	ENSP00000356481:G111X	G	-	1	0	FAM129A	183125967	0.993000	0.37304	0.989000	0.46669	0.450000	0.32258	3.074000	0.50065	1.387000	0.46486	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1	1	0	0	80	203	0	57	0	1	0	71	0	57	2		0	0	0	0	0	2	1	1	80	195	0	56	2								-6.179013	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IVNS1ABP	10625	broad.mit.edu	37	1	185278210	185278210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185278210C>T	ENST00000367498.3	-	4	828	c.206G>A	c.(205-207)gGa>gAa	p.G69E	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein			29					GTGAGAAATTCCATGAGGATC	0.378000																								0							SO:0001583	missense			ENST00000367498.3	1	1	hg19	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830580	0.91036	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.66460	-0.21;-0.21	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.144833	0.64402	D	0.000007	T	0.73666	0.3616	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71774	-0.4491	10	0.35671	T	0.21	.	19.774	0.96385	0.0:1.0:0.0:0.0	.	69	Q9Y6Y0	NS1BP_HUMAN	E	69	ENSP00000356468:G69E;ENSP00000356467:G69E	ENSP00000356467:G69E	G	-	2	0	IVNS1ABP	183544833	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.711000	0.84669	2.679000	0.91253	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	1	0	1	72	216	0	47	1	1	108	213	0	47	2		0	0	0	0	0	2	1	1	71	214	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	185894259	185894259	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185894259C>A	ENST00000271588.4	+	9	1595	c.1366C>A	c.(1366-1368)Ctt>Att	p.L456I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					TGTTGACAGTCTTTTGCCCTT	0.423000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009139	0.54361	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39056	1.1;1.1	5.89	3.01	0.34805	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129749	0.53938	D	0.000058	T	0.33469	0.0864	L	0.50333	1.59	0.42086	D	0.99127	P	0.41393	0.748	B	0.37346	0.247	T	0.05533	-1.0879	10	0.20519	T	0.43	.	11.5853	0.50914	0.0:0.8074:0.0:0.1926	.	456	Q96RW7	HMCN1_HUMAN	I	456	ENSP00000271588:L456I;ENSP00000356462:L456I	ENSP00000271588:L456I	L	+	1	0	HMCN1	184160882	0.998000	0.40836	0.962000	0.40283	0.993000	0.82548	0.894000	0.28350	0.396000	0.25283	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	0	22	289	0	37	0	4.085667e-01	0	19	0	37	2		0	0	0	0	0	2	1	9.999989e-01	22	287	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.900000	0.590000	1.000000	1.000000	0.882945	0.900000	1	7.300000e-01	1
HMCN1	83872	broad.mit.edu	37	1	185969264	185969264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185969264C>T	ENST00000271588.4	+	26	4191	c.3962C>T	c.(3961-3963)aCa>aTa	p.T1321I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					GAAGATGGCACATTGCTGGTT	0.418000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316399	0.23908	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.46	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.313688	0.37715	N	0.001972	T	0.59838	0.2223	L	0.51422	1.61	0.09310	N	1	P	0.37594	0.601	B	0.39876	0.312	T	0.47812	-0.9088	10	0.24483	T	0.36	.	11.1561	0.48489	0.0:0.6935:0.2396:0.0669	.	1321	Q96RW7	HMCN1_HUMAN	I	1321	ENSP00000271588:T1321I;ENSP00000356462:T1321I	ENSP00000271588:T1321I	T	+	2	0	HMCN1	184235887	0.056000	0.20664	0.074000	0.20217	0.277000	0.26821	2.903000	0.48711	0.635000	0.30488	0.558000	0.71614	ACA		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	66	244	0	74	0	6.018974e-01	0	9	0	74	2		0	0	0	0	0	2	1	1	64	242	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	185992272	185992272	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185992272A>G	ENST00000271588.4	+	36	5965	c.5736A>G	c.(5734-5736)caA>caG	p.Q1912Q	HMCN1_ENST00000367492.2_Silent_p.Q1912Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					AGCACATTCAACTGCATGTTC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000271588.4	1	1	hg19	CCDS30956.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	92	325	0	58	0	9.785547e-01	0	24	0	58	2		0	0	0	0	0	2	1	1	92	316	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186022185	186022185	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186022185A>C	ENST00000271588.4	+	43	6908	c.6679A>C	c.(6679-6681)Aat>Cat	p.N2227H	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					TCCACCCCCAAATCTCATCTG	0.338000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974850	0.34848	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.3	2.85	0.33270	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220495	0.53938	D	0.000048	T	0.48995	0.1531	L	0.31420	0.93	0.24021	N	0.996143	B	0.11235	0.004	B	0.13407	0.009	T	0.38001	-0.9681	10	0.45353	T	0.12	.	5.1565	0.15038	0.638:0.1428:0.2192:0.0	.	2227	Q96RW7	HMCN1_HUMAN	H	2227	ENSP00000271588:N2227H;ENSP00000356462:N2227H	ENSP00000271588:N2227H	N	+	1	0	HMCN1	184288808	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.908000	0.56355	0.273000	0.22049	0.455000	0.32223	AAT		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	73	382	0	65	0	9.237088e-01	0	25	0	65	2		0	0	0	0	0	2	1	1	71	373	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186024739	186024739	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186024739C>T	ENST00000271588.4	+	45	7306	c.7077C>T	c.(7075-7077)ggC>ggT	p.G2359G	HMCN1_ENST00000367492.2_Silent_p.G2359G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					CTGACACAGGCCGTTATGTGT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000271588.4	1	1	hg19	CCDS30956.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	129	441	0	126	0	9.579233e-01	0	20	0	126	2		0	0	0	0	0	2	1	1	126	432	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186034555	186034555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186034555G>A	ENST00000271588.4	+	49	7928	c.7699G>A	c.(7699-7701)Gta>Ata	p.V2567I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					CAGTCTTAATGTATTTGGTAG	0.398000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369318	0.82463	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.74209	-0.82;-0.82	5.55	5.55	0.83447	Immunoglobulin I-set (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	L	0.51914	1.62	0.80722	D	1	D	0.56035	0.974	D	0.73380	0.98	T	0.83154	-0.0102	10	0.49607	T	0.09	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	2567	Q96RW7	HMCN1_HUMAN	I	2567	ENSP00000271588:V2567I;ENSP00000356462:V2567I	ENSP00000271588:V2567I	V	+	1	0	HMCN1	184301178	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	18	122	0	24	0	6.027283e-01	0	15	0	24	2		0	0	0	0	0	2	1	9.999864e-01	18	120	0	24	2								-20.000000	1	1	121362	1	23	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998416	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186039890	186039890	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186039890G>A	ENST00000271588.4	+	52	8368		c.e52+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					GGATGGACAGGCCAGTCACAA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198072	0.94997	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184306513	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.566000	0.98157	2.687000	0.91594	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	0	21	461	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	9.999971e-01	21	452	0	59	2								-4.507231	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.560000	0.350000	0.810000	0.550000	0.576240	0.560000	0	4.500000e-01	6.900000e-01
HMCN1	83872	broad.mit.edu	37	1	186052023	186052023	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186052023C>T	ENST00000271588.4	+	57	9043	c.8814C>T	c.(8812-8814)atC>atT	p.I2938I	HMCN1_ENST00000367492.2_Silent_p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					TAACAGATATCGGCAGGTATG	0.328000																								0							SO:0001819	synonymous_variant			ENST00000271588.4	1	1	hg19	CCDS30956.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	30	203	0	35	0	7.703657e-01	0	21	0	35	2		0	0	0	0	0	2	1	1	28	187	0	32	2								-2.842834	1	1	121368	1	31	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999782	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186057863	186057863	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186057863A>C	ENST00000271588.4	+	63	9932	c.9703A>C	c.(9703-9705)Aaa>Caa	p.K3235Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					AAAAGCCCAGAAATATTACTT	0.328000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488294	0.64074	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.73867	-0.3847	10	0.25106	T	0.35	.	15.3835	0.74679	1.0:0.0:0.0:0.0	.	3235	Q96RW7	HMCN1_HUMAN	Q	3235	ENSP00000271588:K3235Q;ENSP00000356462:K3235Q	ENSP00000271588:K3235Q	K	+	1	0	HMCN1	184324486	1.000000	0.71417	0.990000	0.47175	0.199000	0.23934	8.923000	0.92808	2.028000	0.59812	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	17	98	0	19	1	8.328281e-01	2	19	0	19	2		0	0	0	0	0	2	1	9.999747e-01	17	96	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999551	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186088957	186088957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186088957G>A	ENST00000271588.4	+	79	12266	c.12037G>A	c.(12037-12039)Ggg>Agg	p.G4013R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					TGAAGCAACAGGGACACCCAG	0.393000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718089	0.89205	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79940	-1.32;-1.32	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95968	0.8967	10	0.72032	D	0.01	.	15.5677	0.76306	0.0:0.1373:0.8627:0.0	.	4013	Q96RW7	HMCN1_HUMAN	R	4013	ENSP00000271588:G4013R;ENSP00000356462:G4013R	ENSP00000271588:G4013R	G	+	1	0	HMCN1	184355580	1.000000	0.71417	0.787000	0.31911	0.896000	0.52359	7.807000	0.86032	2.830000	0.97506	0.585000	0.79938	GGG		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	96	272	0	75	0	9.999483e-01	0	44	0	75	2		0	0	0	0	0	2	1	1	93	264	0	74	2								-5.349332	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186097274	186097274	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186097274T>C	ENST00000271588.4	+	83	12984	c.12755T>C	c.(12754-12756)gTc>gCc	p.V4252A	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					ACACACACTGTCAGCCTGACT	0.388000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745359	0.49151	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64803	-0.12;-0.12	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436422	0.26474	N	0.024162	T	0.49813	0.1579	N	0.20610	0.595	0.37196	D	0.904143	B	0.31968	0.349	B	0.38803	0.282	T	0.51100	-0.8748	10	0.09590	T	0.72	.	15.3567	0.74431	0.0:0.0:0.0:1.0	.	4252	Q96RW7	HMCN1_HUMAN	A	4252	ENSP00000271588:V4252A;ENSP00000356462:V4252A	ENSP00000271588:V4252A	V	+	2	0	HMCN1	184363897	0.998000	0.40836	0.908000	0.35775	0.988000	0.76386	3.908000	0.56355	2.028000	0.59812	0.482000	0.46254	GTC		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	106	320	0	75	0	9.998545e-01	1	41	0	75	2		0	0	0	0	0	2	1	1	106	313	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186113795	186113795	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186113795T>G	ENST00000271588.4	+	91	14455	c.14226T>G	c.(14224-14226)agT>agG	p.S4742R	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					GCGAAGGGAGTGATGTCCAGA	0.478000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177581	0.38413	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53640	0.61;0.61	5.82	2.16	0.27623	.	0.384313	0.33161	N	0.005202	T	0.28962	0.0719	L	0.28054	0.825	0.31056	N	0.714655	B	0.09022	0.002	B	0.12156	0.007	T	0.14062	-1.0486	10	0.48119	T	0.1	.	3.8691	0.09029	0.2546:0.1803:0.0:0.5651	.	4742	Q96RW7	HMCN1_HUMAN	R	4742	ENSP00000271588:S4742R;ENSP00000356462:S4742R	ENSP00000271588:S4742R	S	+	3	2	HMCN1	184380418	0.025000	0.19082	0.921000	0.36526	0.885000	0.51271	0.026000	0.13599	0.419000	0.25927	-0.344000	0.07964	AGT		TCGA-IB-7651-01A-11D-2154-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	1	83	368	0	80	0	9.977871e-01	1	42	0	80	2		0	0	0	0	0	2	1	1	83	360	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRG4	10216	broad.mit.edu	37	1	186273347	186273347	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186273347A>C	ENST00000445192.2	+	5	472	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4			102					ACCAAACAAGAAGAAGACTAA	0.398000																								0							SO:0001583	missense			ENST00000445192.2	1	1	hg19	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086542	0.55861	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.07688	3.17;3.27;3.19;3.22	5.3	5.3	0.74995	.	0.156884	0.29948	N	0.010787	T	0.17238	0.0414	L	0.29908	0.895	0.29742	N	0.837011	D;D	0.71674	0.997;0.998	D;D	0.68943	0.915;0.961	T	0.01608	-1.1313	10	0.87932	D	0	.	12.7893	0.57523	1.0:0.0:0.0:0.0	.	143;102	Q92954;Q92954-2	PRG4_HUMAN;.	Q	143;102;102;143	ENSP00000356456:K143Q;ENSP00000356454:K102Q;ENSP00000356453:K102Q;ENSP00000399679:K143Q	ENSP00000356453:K102Q	K	+	1	0	PRG4	184539970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.955000	0.56715	2.006000	0.58801	0.477000	0.44152	AAG		TCGA-IB-7651-01A-11D-2154-08	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	1	0	1	43	283	0	75	0	1.375676e-01	0	5	0	75	2		0	0	0	0	0	2	1	1	41	279	0	74	2								-18.701780	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
PRG4	10216	broad.mit.edu	37	1	186277618	186277618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277618G>A	ENST00000445192.2	+	7	2812	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	PRG4_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367483.4_Missense_Mutation_p.D882N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367484.3_Missense_Mutation_p.D452N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4			102					AACAGAAAGAGACTTACGTAC	0.413000																								0							SO:0001583	missense			ENST00000445192.2	1	1	hg19	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038064	0.19669	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05319	3.46;3.52;3.58;3.47;3.58	3.13	0.853	0.19001	.	0.804728	0.10377	U	0.681971	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.44659	0.84;0.84;0.753;0.84	P;P;B;P	0.50314	0.637;0.637;0.433;0.637	T	0.34700	-0.9818	10	0.15499	T	0.54	.	3.6248	0.08109	0.2757:0.0:0.536:0.1882	.	789;830;923;882	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	880;452;789;882;830;923	ENSP00000356456:D880N;ENSP00000356454:D452N;ENSP00000356453:D882N;ENSP00000356455:D830N;ENSP00000399679:D923N	ENSP00000356452:D789N	D	+	1	0	PRG4	184544241	0.000000	0.05858	0.654000	0.29608	0.191000	0.23601	-0.096000	0.11059	0.311000	0.23014	0.423000	0.28283	GAC		TCGA-IB-7651-01A-11D-2154-08	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	1	0	1	169	518	0	168	0	9.993941e-01	0	36	0	168	2		0	0	0	0	0	2	1	1	166	506	0	166	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPR	7175	broad.mit.edu	37	1	186307228	186307228	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186307228T>C	ENST00000367478.4	-	31	4595	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein			123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)			TTTTCTTAACTTGAGTAATAG	0.303000			T	NTRK1	papillary thyroid										Dom	yes		1	1q25	7175	translocated promoter region		E	0							SO:0001819	synonymous_variant			ENST00000367478.4	1	1	hg19	CCDS41446.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	1	0	1	76	207	0	46	1	1	53	85	0	46	2		0	0	0	0	0	2	1	1	76	205	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPR	7175	broad.mit.edu	37	1	186319457	186319457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186319457C>A	ENST00000367478.4	-	21	2970	c.2674G>T	c.(2674-2676)Gaa>Taa	p.E892*	TPR_ENST00000474852.1_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein			123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)			TTTAATAGTTCTTTTGTGTTA	0.318000			T	NTRK1	papillary thyroid										Dom	yes		1	1q25	7175	translocated promoter region		E	0							SO:0001587	stop_gained			ENST00000367478.4	0	1	hg19	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	44	10.646956	0.99444	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	X	892	.	ENSP00000356448:E892X	E	-	1	0	TPR	184586080	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.310000	0.72830	2.797000	0.96272	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	1	0	1	31	169	0	31	1	1	6	159	0	31	2		0	0	0	0	0	2	1	1	31	161	0	31	2								-3.345293	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
TPR	7175	broad.mit.edu	37	1	186330803	186330803	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186330803T>C	ENST00000367478.4	-	9	1205	c.909A>G	c.(907-909)ctA>ctG	p.L303L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein			123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)			CTGCCCGGGTTAGTTCATTGC	0.353000			T	NTRK1	papillary thyroid										Dom	yes		1	1q25	7175	translocated promoter region		E	0							SO:0001819	synonymous_variant			ENST00000367478.4	1	1	hg19	CCDS41446.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	0	0	0	19	611	0	90	1	8.945586e-01	6	122	0	90	2		0	0	0	0	0	2	1	9.999885e-01	19	597	0	89	2								-16.507490	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.380000	0.230000	0.580000	0.390000	0.401861	0.380000	0	3.000000e-01	4.900000e-01
OCLM	10896	broad.mit.edu	37	1	186370258	186370258	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186370258T>C	ENST00000574641.1	+	1	555	c.81T>C	c.(79-81)taT>taC	p.Y27Y	C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000287859.6_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin								AAATCCTTTATAAAAGTGGTA	0.323000																								0							SO:0001819	synonymous_variant			ENST00000574641.1	1	1	hg19	CCDS58051.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438012.1	1	0	0	109	282	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	108	280	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTGS2	5743	broad.mit.edu	37	1	186645084	186645084	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186645084C>T	ENST00000367468.5	-	8	1339	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)			27				Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTCCATGTTCCAGCAATATAG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000367468.5	1	1	hg19	CCDS1371.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	0	0	1	103	314	1	77	0	8.653912e-01	1	12	1	77	2		0	0	0	0	0	2	1	1	102	309	1	76	18								-4.869275	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF21	84966	broad.mit.edu	37	1	18691979	18691979	+	Missense_Mutation	SNP	C	C	T	rs144826489		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18691979C>T	ENST00000251296.1	+	6	1186	c.803C>T	c.(802-804)aCg>aTg	p.T268M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21			40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			ATACCAGAGACGGTCGTGAGC	0.657000																								0							SO:0001583	missense			ENST00000251296.1	1	1	hg19	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176491	0.78564	.	.	ENSG00000117154	ENST00000251296	T	0.59224	0.28	4.28	4.28	0.50868	.	0.151120	0.64402	D	0.000016	T	0.61123	0.2322	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	T	0.63769	-0.6562	10	0.49607	T	0.09	-3.8792	15.7859	0.78304	0.0:1.0:0.0:0.0	.	268	Q96ID5	IGS21_HUMAN	M	268	ENSP00000251296:T268M	ENSP00000251296:T268M	T	+	2	0	IGSF21	18564566	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.953000	0.75995	2.383000	0.81215	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	1	0	0	84	811	0	194	0	9.868512e-01	0	66	0	194	2		0	0	0	0	0	2	1	1	81	794	0	193	2								-19.997740	1	0	121408	2	43	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.930000	0.780000	1.000000	0.990000	0.925062	0.930000	1	8.600000e-01	9.800000e-01
IGSF21	84966	broad.mit.edu	37	1	18703915	18703915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18703915G>A	ENST00000251296.1	+	9	1706	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21			40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			GAGGAACGGAGGACTCTAATG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000251296.1	1	1	hg19	CCDS184.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	0	0	0	29	429	0	107	0	7.553555e-01	0	42	0	107	2		0	0	0	0	0	2	1	9.888161e-01	29	423	1	106	15								-3.318719	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.670000	0.460000	0.910000	0.670000	0.683829	0.670000	0	5.600000e-01	8.000000e-01
KLHDC7A	127707	broad.mit.edu	37	1	18808505	18808505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808505G>A	ENST00000400664.1	+	1	1082	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A			22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)			GGGTGCAGCCGAAAGAGCCGC	0.672000																								0							SO:0001583	missense			ENST00000400664.1	1	1	hg19	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420592	0.42918	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72835	-0.69	5.31	-1.49	0.08718	.	4.598840	0.00649	N	0.000548	T	0.52741	0.1753	N	0.14661	0.345	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.04013	0.001;0.001	T	0.40156	-0.9578	10	0.45353	T	0.12	.	5.4834	0.16737	0.3099:0.4088:0.2813:0.0	.	281;344	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	K	344;281	ENSP00000383505:E344K	ENSP00000383505:E344K	E	+	1	0	KLHDC7A	18681092	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	0.470000	0.22084	-0.314000	0.08716	0.313000	0.20887	GAA		TCGA-IB-7651-01A-11D-2154-08	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	1	0	0	11	153	0	32	0	1.594402e-02	0	3	0	32	2		0	0	0	0	0	2	1	9.979663e-01	11	144	0	30	2								-15.247620	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.680000	0.370000	0.970000	0.690000	0.691493	0.680000	0	5.100000e-01	8.600000e-01
KLHDC7A	127707	broad.mit.edu	37	1	18808833	18808833	+	Missense_Mutation	SNP	C	C	T	rs77562571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808833C>T	ENST00000400664.1	+	1	1410	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A			22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)			CTGAAAGAGGCGGCCTACAAG	0.632000																								0							SO:0001583	missense			ENST00000400664.1	1	0	hg19	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588771	0.86851	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78816	-1.21	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.61703	1.905	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.76071	0.97;0.987	D	0.87405	0.2372	10	0.62326	D	0.03	.	17.5606	0.87906	0.0:1.0:0.0:0.0	.	390;453	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	V	453;390	ENSP00000383505:A453V	ENSP00000383505:A453V	A	+	2	0	KLHDC7A	18681420	0.998000	0.40836	0.963000	0.40424	0.744000	0.42396	3.752000	0.55172	2.486000	0.83907	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	1	0	1	84	407	0	88	0	7.919521e-02	1	2	0	88	2		0	0	0	0	0	2	1	1	84	402	0	87	2								-3.478356	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.981984	0.980000	1	9.500000e-01	1
KLHDC7A	127707	broad.mit.edu	37	1	18809562	18809562	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18809562G>T	ENST00000400664.1	+	1	2139	c.2087G>T	c.(2086-2088)aGc>aTc	p.S696I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A			22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)			TACCGCTGCAGCGCCAGCACC	0.662000																								0							SO:0001583	missense			ENST00000400664.1	0	1	hg19	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620703	0.66787	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.67865	-0.29	4.81	2.91	0.33838	Kelch-type beta propeller (1);	0.322414	0.32703	N	0.005745	T	0.63838	0.2545	L	0.44542	1.39	0.28668	N	0.905798	P;D	0.54397	0.904;0.966	P;P	0.49597	0.514;0.616	T	0.60880	-0.7175	10	0.66056	D	0.02	.	10.2337	0.43270	0.1672:0.0:0.8328:0.0	.	633;696	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	I	696;633	ENSP00000383505:S696I	ENSP00000383505:S696I	S	+	2	0	KLHDC7A	18682149	0.959000	0.32827	0.998000	0.56505	0.969000	0.65631	2.181000	0.42547	0.417000	0.25871	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	0	0	0	8	351	0	61	0	2.024345e-03	0	3	0	61	2		0	0	0	0	0	2	1	9.888178e-01	8	345	0	60	2								-8.171067	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.240000	0.110000	0.440000	0.230000	0.261088	0.240000	0	1.700000e-01	3.400000e-01
PAX7	5081	broad.mit.edu	37	1	19018338	19018338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19018338C>T	ENST00000375375.3	+	5	1275	c.677C>T	c.(676-678)gCc>gTc	p.A226V	PAX7_ENST00000420770.2_Missense_Mutation_p.A226V|PAX7_ENST00000400661.3_Missense_Mutation_p.A224V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7		PAX7/FOXO1(197)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)			ACATTCACGGCCGAGCAGCTG	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma										Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0							SO:0001583	missense			ENST00000375375.3	0	1	hg19	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780423	0.70222	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95656	-3.77;-3.77;-3.77	4.98	4.07	0.47477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.112115	0.64402	D	0.000012	D	0.92922	0.7748	L	0.37897	1.145	0.80722	D	1	P;P;B	0.47762	0.571;0.9;0.151	P;P;B	0.45660	0.489;0.477;0.192	D	0.92496	0.6004	10	0.72032	D	0.01	.	12.0368	0.53429	0.0:0.9151:0.0:0.0849	.	226;224;226	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	226;226;224	ENSP00000364524:A226V;ENSP00000403389:A226V;ENSP00000383502:A224V	ENSP00000364524:A226V	A	+	2	0	PAX7	18890925	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.783000	0.85696	1.104000	0.41587	-0.136000	0.14681	GCC		TCGA-IB-7651-01A-11D-2154-08	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	1	0	1	15	110	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.998801e-01	14	107	0	24	2								-19.999680	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.890000	0.610000	1.000000	0.990000	0.873974	0.890000	1	7.600000e-01	9.700000e-01
TAS1R2	80834	broad.mit.edu	37	1	19166262	19166262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19166262C>T	ENST00000375371.3	-	6	2372	c.2351G>A	c.(2350-2352)aGc>aAc	p.S784N		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2			45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		Aspartame(DB00168)	CAGCACCCCGCTGTAGGCAGA	0.567000																								0							SO:0001583	missense			ENST00000375371.3	1	1	hg19	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.733088	0.00687	.	.	ENSG00000179002	ENST00000375371	D	0.88124	-2.34	5.06	1.4	0.22301	GPCR, family 3, C-terminal (2);	2.888830	0.01588	N	0.021403	T	0.68559	0.3014	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61292	-0.7092	10	0.19147	T	0.46	.	6.9083	0.24321	0.0:0.2752:0.0:0.7248	.	784	Q8TE23	TS1R2_HUMAN	N	784	ENSP00000364520:S784N	ENSP00000364520:S784N	S	-	2	0	TAS1R2	19038849	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	0.137000	0.15995	0.002000	0.14630	-1.750000	0.00680	AGC		TCGA-IB-7651-01A-11D-2154-08	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	1	32	150	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	31	145	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.953255	0.960000	1	9.000000e-01	9.900000e-01
TAS1R2	80834	broad.mit.edu	37	1	19175848	19175848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19175848G>A	ENST00000375371.3	-	4	1475	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2			45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		Aspartame(DB00168)	GTTGTTGATGGTGTGCCAGGA	0.637000																								0							SO:0001583	missense			ENST00000375371.3	1	1	hg19	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463389	0.26248	.	.	ENSG00000179002	ENST00000375371	D	0.89746	-2.56	4.4	2.5	0.30297	.	0.000000	0.48767	D	0.000173	D	0.87366	0.6159	N	0.19112	0.55	0.22911	N	0.998575	D	0.89917	1.0	D	0.76575	0.988	T	0.77509	-0.2561	10	0.45353	T	0.12	.	7.1144	0.25409	0.0:0.1891:0.6151:0.1958	.	485	Q8TE23	TS1R2_HUMAN	I	485	ENSP00000364520:T485I	ENSP00000364520:T485I	T	-	2	0	TAS1R2	19048435	1.000000	0.71417	0.603000	0.28903	0.230000	0.25150	3.622000	0.54217	0.478000	0.27488	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	0	21	251	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.999977e-01	19	249	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.780000	0.510000	0.980000	0.800000	0.782531	0.780000	0	6.400000e-01	9.200000e-01
TAS1R2	80834	broad.mit.edu	37	1	19181132	19181132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19181132C>T	ENST00000375371.3	-	3	853	c.832G>A	c.(832-834)Gac>Aac	p.D278N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2			45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		Aspartame(DB00168)	AGGGTCAGGTCGGGCGAGAAC	0.632000																								0							SO:0001583	missense			ENST00000375371.3	1	1	hg19	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091015	0.55968	.	.	ENSG00000179002	ENST00000375371	D	0.82984	-1.67	4.99	4.99	0.66335	Extracellular ligand-binding receptor (1);	0.820936	0.10616	N	0.653957	D	0.86481	0.5943	L	0.43152	1.355	0.28072	N	0.93254	D	0.69078	0.997	P	0.62560	0.904	T	0.77354	-0.2619	10	0.18710	T	0.47	.	15.8175	0.78615	0.0:1.0:0.0:0.0	.	278	Q8TE23	TS1R2_HUMAN	N	278	ENSP00000364520:D278N	ENSP00000364520:D278N	D	-	1	0	TAS1R2	19053719	0.004000	0.15560	0.173000	0.22940	0.028000	0.11728	0.976000	0.29462	2.607000	0.88179	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	0	18	174	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.999832e-01	18	170	0	45	2								-19.999990	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.850000	0.570000	1.000000	0.960000	0.840109	0.850000	1	7.100000e-01	9.600000e-01
ALDH4A1	8659	broad.mit.edu	37	1	19209672	19209672	+	Silent	SNP	C	C	T	rs142063145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209672C>T	ENST00000375341.3	-	7	881	c.624G>A	c.(622-624)tcG>tcA	p.S208S	ALDH4A1_ENST00000290597.5_Silent_p.S208S|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Silent_p.S148S|ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1			15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			AGTTAAAGGGCGAGATGGCCG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000375341.3	0	1	hg19	CCDS188.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1	0	0	0	30	407	1	86	1	3.130726e-01	6	10	1	86	2		0	0	0	0	0	2	1	9.694814e-01	30	400	1	82	18								-20.000000	1	0	121384	3	35	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.720000	0.500000	0.950000	0.720000	0.733603	0.720000	0	6.000000e-01	8.500000e-01
ALDH4A1	8659	broad.mit.edu	37	1	19209781	19209781	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209781C>T	ENST00000375341.3	-	6	852	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1			15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			ACCTCCAGACCCCGGTACACC	0.657000																								0							SO:0001583	missense			ENST00000375341.3	1	1	hg19	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331689	0.81690	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.51537	-0.8693	10	0.25106	T	0.35	-37.3033	17.7436	0.88413	0.0:1.0:0.0:0.0	.	199	P30038	AL4A1_HUMAN	S	199;199;199;139;183;97;139;183	ENSP00000290597:G199S;ENSP00000364490:G199S;ENSP00000446071:G199S;ENSP00000442988:G139S;ENSP00000393209:G183S	ENSP00000290597:G199S	G	-	1	0	ALDH4A1	19082368	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	7.184000	0.77705	2.537000	0.85549	0.561000	0.74099	GGT		TCGA-IB-7651-01A-11D-2154-08	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1	1	0	1	58	217	0	54	0	7.540876e-01	1	11	0	54	2		0	0	0	0	0	2	1	1	58	216	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978023	0.980000	1	9.500000e-01	1
ALDH4A1	8659	broad.mit.edu	37	1	19212023	19212023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19212023C>A	ENST00000375341.3	-	5	654	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D133Y|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y|ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1			15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			CTCAGCATGTCTGCCGCCTTC	0.662000																								0							SO:0001583	missense			ENST00000375341.3	0	1	hg19	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142755	0.77888	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94986	0.8130	10	0.87932	D	0	-22.533	17.7644	0.88473	0.0:1.0:0.0:0.0	.	133	P30038	AL4A1_HUMAN	Y	133;133;133;73;117;31;73;117	ENSP00000290597:D133Y;ENSP00000364490:D133Y;ENSP00000446071:D133Y;ENSP00000442988:D73Y;ENSP00000393209:D117Y	ENSP00000290597:D133Y	D	-	1	0	ALDH4A1	19084610	1.000000	0.71417	0.098000	0.21074	0.704000	0.40688	7.186000	0.77722	2.551000	0.86045	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1	0	0	0	11	56	0	14	1	8.341324e-01	9	10	0	14	2		0	0	0	0	0	2	1	9.987051e-01	11	55	0	14	2								-19.854620	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.900000	0.610000	1.000000	0.990000	0.880870	0.900000	1	7.700000e-01	9.800000e-01
RGS1	5996	broad.mit.edu	37	1	192545470	192545470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192545470A>G	ENST00000367459.3	+	2	259	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1			22		Breast(1374;0.188)			GGAATCTGGAATGAAATCTTC	0.338000																								0							SO:0001583	missense			ENST00000367459.3	1	1	hg19	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773599	0.31411	.	.	ENSG00000090104	ENST00000367459	T	0.36699	1.24	5.91	4.72	0.59763	.	1.982040	0.02048	N	0.049806	T	0.28433	0.0703	N	0.14661	0.345	0.36212	D	0.851395	B;B	0.16802	0.019;0.0	B;B	0.12837	0.008;0.0	T	0.03566	-1.1024	10	0.27785	T	0.31	.	11.8361	0.52325	0.8539:0.1461:0.0:0.0	.	65;65	Q08116-2;Q08116	.;RGS1_HUMAN	V	65	ENSP00000356429:M65V	ENSP00000356429:M65V	M	+	1	0	RGS1	190812093	0.994000	0.37717	0.997000	0.53966	0.932000	0.56968	2.090000	0.41682	2.254000	0.74563	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	1	0	0	23	259	0	63	0	1	0	834	0	63	2		0	0	0	0	0	2	1	9.999994e-01	22	256	0	63	2								-8.515603	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.680000	1.000000	1.000000	0.947675	0.990000	1	8.500000e-01	1
RGS2	5997	broad.mit.edu	37	1	192778279	192778279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192778279C>T	ENST00000235382.5	+	1	109	c.78C>T	c.(76-78)agC>agT	p.S26S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2			5					GCCACAAGAGCGAGGAGAAGC	0.567000													Pancreas(71;51 2183 4981)											0							SO:0001819	synonymous_variant			ENST00000235382.5	0	1	hg19	CCDS1377.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	0	0	0	8	490	0	80	1	7.257741e-01	3	151	0	80	2		0	0	0	0	0	2	1	9.890351e-01	8	485	0	80	2								-3.158511	1	0	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.210000	0.090000	0.380000	0.210000	0.228260	0.210000	0	1.400000e-01	3.000000e-01
CDC73	79577	broad.mit.edu	37	1	193104572	193104572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193104572G>A	ENST00000367435.3	+	4	543	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	MIR1278_ENST00000408753.1_RNA	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73			87					GGTCTTCAGCGATCTACTCAA	0.338000																								0							SO:0001583	missense			ENST00000367435.3	1	1	hg19	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679579	0.68042	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.84730	-1.89	5.7	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.76076	0.3937	L	0.43152	1.355	0.54753	D	0.999987	P	0.50443	0.935	B	0.34722	0.188	T	0.74343	-0.3696	10	0.18276	T	0.48	-10.1528	14.6786	0.69001	0.0697:0.0:0.9303:0.0	.	120	Q6P1J9	CDC73_HUMAN	Q	120	ENSP00000356405:R120Q	ENSP00000356405:R120Q	R	+	2	0	CDC73	191371195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.406000	0.46857	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	1	0	1	103	293	0	48	1	1	51	92	0	48	2		0	0	0	0	0	2	1	1	100	291	0	47	2								-6.096782	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC73	79577	broad.mit.edu	37	1	193111038	193111038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193111038G>A	ENST00000367435.3	+	7	755	c.571G>A	c.(571-573)Gct>Act	p.A191T		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73			87					CAAAATTATGGCTAAGAAAAG	0.373000																								0							SO:0001583	missense			ENST00000367435.3	1	1	hg19	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093681	0.76870	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.86030	-2.06	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.79805	2.47	0.80722	D	1	B	0.21520	0.057	B	0.21708	0.036	T	0.81872	-0.0733	10	0.23891	T	0.37	-18.9726	20.5568	0.99304	0.0:0.0:1.0:0.0	.	191	Q6P1J9	CDC73_HUMAN	T	191	ENSP00000356405:A191T	ENSP00000356405:A191T	A	+	1	0	CDC73	191377661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.861000	0.98227	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	1	0	1	34	135	0	33	1	9.999997e-01	36	67	0	33	2		0	0	0	0	0	2	1	1	33	133	0	33	2								-19.993750	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC73	79577	broad.mit.edu	37	1	193117091	193117091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193117091C>T	ENST00000367435.3	+	8	1008	c.824C>T	c.(823-825)cCt>cTt	p.P275L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73			87					AATGCAGCACCTGTGGTAAGA	0.383000																								0							SO:0001583	missense			ENST00000367435.3	1	1	hg19	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333084	0.60853	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.63744	-0.06	5.66	5.66	0.87406	.	0.058977	0.64402	D	0.000001	T	0.66799	0.2826	M	0.79123	2.44	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63506	-0.6622	10	0.46703	T	0.11	-15.6887	19.3509	0.94384	0.0:1.0:0.0:0.0	.	275	Q6P1J9	CDC73_HUMAN	L	275	ENSP00000356405:P275L	ENSP00000356405:P275L	P	+	2	0	CDC73	191383714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.170000	0.58229	2.656000	0.90262	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	1	0	1	37	112	0	22	1	1	71	114	0	22	2		0	0	0	0	0	2	1	1	37	112	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBR4	23352	broad.mit.edu	37	1	19428113	19428113	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19428113G>T	ENST00000375254.3	-	88	12951	c.12924C>A	c.(12922-12924)gcC>gcA	p.A4308A	UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000543981.1_5'UTR|UBR4_ENST00000375267.2_Silent_p.A4308A|UBR4_ENST00000429347.2_5'Flank|UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000375224.1_Silent_p.A15A|UBR4_ENST00000467272.2_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			CAGCCATGAAGGCCTTGGTTT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000375254.3	0	1	hg19	CCDS189.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	0	0	9	508	0	124	1	8.152653e-01	18	160	0	124	2		0	0	0	0	0	2	1	9.940889e-01	9	505	0	120	2								-2.943849	1	0	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.190000	0.090000	0.330000	0.180000	0.203497	0.190000	0	1.300000e-01	2.600000e-01
UBR4	23352	broad.mit.edu	37	1	19431088	19431088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19431088T>C	ENST00000375254.3	-	86	12745	c.12718A>G	c.(12718-12720)Agt>Ggt	p.S4240G	UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000543981.1_5'Flank|UBR4_ENST00000375267.2_Missense_Mutation_p.S4240G|UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375224.1_5'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			CCTGTGAGACTTTTAAGGGCA	0.517000																								0							SO:0001583	missense			ENST00000375254.3	1	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723048	0.68959	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	N	0.19112	0.55	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.58177	-0.7682	10	0.22109	T	0.4	.	14.002	0.64439	0.0:0.0:0.0:1.0	.	4240	Q5T4S7	UBR4_HUMAN	G	4240;4240;4233;4216	ENSP00000364403:S4240G;ENSP00000364416:S4240G;ENSP00000364365:S4233G;ENSP00000364374:S4216G	ENSP00000364365:S4233G	S	-	1	0	UBR4	19303675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.326000	0.78906	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	14	103	0	37	1	9.999948e-01	21	160	0	37	2		0	0	0	0	0	2	1	9.998062e-01	14	102	0	36	2								-19.996170	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.880000	0.600000	1.000000	0.990000	0.867979	0.880000	1	7.500000e-01	9.700000e-01
UBR4	23352	broad.mit.edu	37	1	19447793	19447793	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19447793C>A	ENST00000375254.3	-	68	10058	c.10031G>T	c.(10030-10032)aGt>aTt	p.S3344I	UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375267.2_Missense_Mutation_p.S3344I|UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375218.3_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			GGAAGAAGCACTGGAGGATCC	0.557000																								0							SO:0001583	missense			ENST00000375254.3	1	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124794	0.56613	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.25085	1.82;1.82;1.83;1.83	5.95	5.04	0.67666	.	1.898250	0.01993	N	0.045680	T	0.20251	0.0487	N	0.12182	0.205	0.29740	N	0.837165	B	0.20671	0.047	B	0.21360	0.034	T	0.16482	-1.0401	10	0.51188	T	0.08	.	9.5203	0.39131	0.0:0.781:0.1444:0.0746	.	3344	Q5T4S7	UBR4_HUMAN	I	3344;3344;3337;3320;952;2030	ENSP00000364403:S3344I;ENSP00000364416:S3344I;ENSP00000364365:S3337I;ENSP00000364374:S3320I	ENSP00000364365:S3337I	S	-	2	0	UBR4	19320380	0.904000	0.30761	0.063000	0.19743	0.938000	0.57974	3.191000	0.50981	1.511000	0.48818	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	33	306	0	72	1	9.995492e-01	12	99	0	72	2		0	0	0	0	0	2	1	1	34	301	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.900000	0.680000	1.000000	0.990000	0.889847	0.900000	1	7.900000e-01	9.700000e-01
UBR4	23352	broad.mit.edu	37	1	19470518	19470518	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19470518C>T	ENST00000375254.3	-	55	8162	c.8135G>A	c.(8134-8136)aGa>aAa	p.R2712K	UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375267.2_Missense_Mutation_p.R2712K|UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			AGTCACATGTCTCCGTTTGTT	0.488000																								0							SO:0001583	missense			ENST00000375254.3	1	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256004	0.95336	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.59224	1.39;1.38;0.28;1.31	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.49126	1.545	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.67503	-0.5654	10	0.49607	T	0.09	.	19.328	0.94270	0.0:1.0:0.0:0.0	.	2712	Q5T4S7	UBR4_HUMAN	K	2712;2712;2740;2723;355;1433	ENSP00000364403:R2712K;ENSP00000364416:R2712K;ENSP00000364365:R2740K;ENSP00000364374:R2723K	ENSP00000364365:R2740K	R	-	2	0	UBR4	19343105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.798000	0.96311	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	60	506	0	130	1	9.994425e-01	21	73	0	130	2		0	0	0	0	0	2	1	1	60	502	0	129	2								-19.351390	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.940000	0.800000	1.000000	0.990000	0.938853	0.940000	1	8.800000e-01	9.900000e-01
UBR4	23352	broad.mit.edu	37	1	19486689	19486689	+	Silent	SNP	G	G	A	rs139582695	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19486689G>A	ENST00000375254.3	-	39	5520	c.5493C>T	c.(5491-5493)gcC>gcT	p.A1831A	UBR4_ENST00000375217.2_Silent_p.A1831A|UBR4_ENST00000375267.2_Silent_p.A1831A|UBR4_ENST00000375226.2_Silent_p.A1831A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			TGCTCCCGACGGCTGAAGCTT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000375254.3	1	0	hg19	CCDS189.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	32	200	0	49	1	9.990723e-01	11	59	0	49	2		0	0	0	0	0	2	1	1	32	195	0	49	2								-3.140896	1	1	121410	47	49	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.939167	0.940000	1	8.800000e-01	9.900000e-01
UBR4	23352	broad.mit.edu	37	1	19500066	19500066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19500066C>T	ENST00000375254.3	-	23	3059	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375267.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375226.2_Missense_Mutation_p.G1011E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			TGGTAAAATTCCTAGGATCCT	0.458000																								0							SO:0001583	missense			ENST00000375254.3	1	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384326	0.82792	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.40543	1.245	0.80722	D	1	P	0.47106	0.89	B	0.42245	0.381	T	0.27706	-1.0066	10	0.31617	T	0.26	.	19.1194	0.93357	0.0:1.0:0.0:0.0	.	1011	Q5T4S7	UBR4_HUMAN	E	1011;1011;1011;1011;227	ENSP00000364403:G1011E;ENSP00000364416:G1011E;ENSP00000364365:G1011E;ENSP00000364374:G1011E	ENSP00000364365:G1011E	G	-	2	0	UBR4	19372653	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.484000	0.81180	2.605000	0.88082	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	0	0	8	186	0	45	1	4.528317e-01	3	31	0	45	2		0	0	0	0	0	2	1	9.896025e-01	8	185	0	45	2								-10.443880	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.440000	0.210000	0.770000	0.420000	0.468347	0.440000	0	3.100000e-01	6.100000e-01
UBR4	23352	broad.mit.edu	37	1	19524267	19524267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19524267G>T	ENST00000375254.3	-	7	817	c.790C>A	c.(790-792)Cca>Aca	p.P264T	UBR4_ENST00000375217.2_Missense_Mutation_p.P264T|UBR4_ENST00000375267.2_Missense_Mutation_p.P264T|UBR4_ENST00000375226.2_Missense_Mutation_p.P264T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			AGGAAATATGGCAGGTTCAAA	0.423000																								0							SO:0001583	missense			ENST00000375254.3	1	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341787	0.81911	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.35605	1.33;1.33;1.3;1.31	5.8	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.50333	1.59	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.20706	-1.0267	10	0.87932	D	0	.	13.4566	0.61201	0.0754:0.0:0.9246:0.0	.	264	Q5T4S7	UBR4_HUMAN	T	264	ENSP00000364403:P264T;ENSP00000364416:P264T;ENSP00000364365:P264T;ENSP00000364374:P264T	ENSP00000364365:P264T	P	-	1	0	UBR4	19396854	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.383000	0.73172	1.460000	0.47911	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	30	677	0	135	1	6.172910e-01	8	40	0	135	2		0	0	0	0	0	2	1	1	30	654	0	131	2								-4.512922	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.450000	0.310000	0.620000	0.450000	0.464179	0.450000	0	3.700000e-01	5.400000e-01
UBR4	23352	broad.mit.edu	37	1	19525329	19525329	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19525329C>T	ENST00000375254.3	-	4	499	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375267.2_Missense_Mutation_p.A158T|UBR4_ENST00000375226.2_Missense_Mutation_p.A158T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			GGCAGCTTGGCGGATTTCATC	0.468000																								0							SO:0001583	missense			ENST00000375254.3	1	1	hg19	CCDS189.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.2	4.384119	0.82792	0.0	1.16E-4	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.28255	1.64;1.63;1.62;1.62	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.38175	1.15	0.80722	D	1	P	0.43431	0.807	B	0.26614	0.071	T	0.06356	-1.0831	10	0.66056	D	0.02	.	12.8274	0.57726	0.1632:0.8367:0.0:0.0	.	158	Q5T4S7	UBR4_HUMAN	T	158	ENSP00000364403:A158T;ENSP00000364416:A158T;ENSP00000364365:A158T;ENSP00000364374:A158T	ENSP00000364365:A158T	A	-	1	0	UBR4	19397916	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	5.885000	0.69736	2.536000	0.85505	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	45	489	0	101	1	8.680617e-01	6	35	0	101	2		0	0	0	0	0	2	1	1	45	481	0	101	2								-11.677780	1	1	121412	5	39	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.860000	0.650000	0.990000	0.890000	0.857011	0.860000	1	7.500000e-01	9.500000e-01
GABRD	2563	broad.mit.edu	37	1	1956825	1956825	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1956825C>A	ENST00000378585.4	+	3	317	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta			20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGACCACATCTCAGAGGCCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000378585.4	1	1	hg19	CCDS36.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	0	0	1	64	521	0	114	0	2.621635e-01	0	9	0	114	2		0	0	0	0	0	2	1	1	64	516	1	114	18								-19.991050	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.946506	0.950000	1	8.900000e-01	9.900000e-01
MRTO4	51154	broad.mit.edu	37	1	19584466	19584466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19584466G>A	ENST00000330263.4	+	6	778	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	p.A161T(1)		8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			CCTGCCCACCGCCCTCAAGAG	0.597000													GBM(192;2418 3032 7540 48714)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000330263.4	1	1	hg19	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279836	0.10458	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	1.97	0.26223	.	0.139242	0.64402	N	0.000004	T	0.38931	0.1059	N	0.20574	0.59	0.52501	D	0.999956	B	0.13145	0.007	B	0.06405	0.002	T	0.11012	-1.0605	9	0.44086	T	0.13	-9.6924	9.8397	0.40991	0.1362:0.0:0.7458:0.118	.	161	Q9UKD2	MRT4_HUMAN	T	161	.	ENSP00000364320:A161T	A	+	1	0	MRTO4	19457053	0.997000	0.39634	0.724000	0.30704	0.002000	0.02628	2.484000	0.45242	0.114000	0.18032	-0.940000	0.02684	GCC		TCGA-IB-7651-01A-11D-2154-08	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	1	0	1	55	259	0	61	1	1	48	97	0	61	2		0	0	0	0	0	2	1	1	55	255	0	61	2								-20.000000	1	1	121394	5	36	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972419	0.970000	1	9.400000e-01	1
MRTO4	51154	broad.mit.edu	37	1	19585280	19585280	+	Missense_Mutation	SNP	G	G	A	rs146948534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19585280G>A	ENST00000330263.4	+	8	973	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)			8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			GCCAGAGAGCGCATCTGAGTC	0.507000													GBM(192;2418 3032 7540 48714)											0							SO:0001583	missense			ENST00000330263.4	1	1	hg19	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497115	0.26861	2.27E-4	0.0	ENSG00000053372	ENST00000330263	.	.	.	5.31	0.673	0.17941	.	1.141820	0.06171	N	0.677709	T	0.39627	0.1085	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28038	-1.0056	9	0.14252	T	0.57	-6.6866	8.487	0.33078	0.3954:0.0:0.6046:0.0	.	226	Q9UKD2	MRT4_HUMAN	T	226	.	ENSP00000364320:A226T	A	+	1	0	MRTO4	19457867	0.002000	0.14202	0.005000	0.12908	0.180000	0.23129	1.055000	0.30467	0.308000	0.22923	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	1	0	1	57	201	0	53	1	1	66	118	0	53	2		0	0	0	0	0	2	1	1	56	200	0	52	2								-20.000000	1	1	121412	107	49	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978392	0.980000	1	9.500000e-01	1
AKR7L	246181	broad.mit.edu	37	1	19600445	19600445	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19600445C>T	ENST00000429712.1	-	0	243				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like			6					GTGTCTATCTCGGTGTGGCCG	0.701000																								0											ENST00000429712.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.55	2.866840	0.51588	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.15	3.15	0.36227	NADP-dependent oxidoreductase domain (3);	0.454501	0.21675	N	0.070814	T	0.50735	0.1633	.	.	.	0.21579	N	0.999631	P;D	0.60160	0.924;0.987	P;P	0.57152	0.622;0.814	T	0.35076	-0.9803	7	.	.	.	.	10.4071	0.44266	0.0:0.7984:0.2015:0.0	.	42;42	F8W7D9;Q8NHP1	.;ARK74_HUMAN	K	42	.	.	E	-	1	0	AKR7L	19473032	0.453000	0.25721	0.458000	0.27068	0.320000	0.28249	2.894000	0.48640	1.772000	0.52199	0.195000	0.17529	GAG		TCGA-IB-7651-01A-11D-2154-08	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	1	0	0	19	55	0	9	0	0	0	1	0	9	2		0	0	0	0	0	2	1	9.999968e-01	19	55	0	9	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.950000	0.780000	1.000000	0.990000	0.940601	0.950000	1	8.800000e-01	9.900000e-01
AKR7A3	22977	broad.mit.edu	37	1	19609268	19609268	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19609268G>A	ENST00000361640.4	-	7	1493	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)			13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			CAAATGCCAGGCTTGATTAAA	0.557000																								0							SO:0001583	missense			ENST00000361640.4	1	1	hg19	CCDS193.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307444	0.40795	.	.	ENSG00000162482	ENST00000361640	T	0.23552	1.9	3.59	1.52	0.23074	NADP-dependent oxidoreductase domain (3);	0.108969	0.64402	D	0.000006	T	0.39436	0.1078	L	0.59967	1.855	0.49299	D	0.999775	D	0.69078	0.997	D	0.63113	0.911	T	0.04360	-1.0957	10	0.40728	T	0.16	.	10.741	0.46154	0.0:0.3737:0.6263:0.0	.	318	O95154	ARK73_HUMAN	V	318	ENSP00000355377:A318V	ENSP00000355377:A318V	A	-	2	0	AKR7A3	19481855	1.000000	0.71417	0.496000	0.27539	0.014000	0.08584	4.990000	0.63876	0.007000	0.14760	0.205000	0.17691	GCC		TCGA-IB-7651-01A-11D-2154-08	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	0	0	1	13	261	0	55	1	8.924182e-01	13	68	0	55	2		0	0	0	0	0	2	1	9.993602e-01	11	247	0	70	2								-4.622944	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.500000	0.280000	0.790000	0.490000	0.525755	0.500000	0	3.800000e-01	6.500000e-01
GABRD	2563	broad.mit.edu	37	1	1961614	1961614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1961614C>T	ENST00000378585.4	+	9	1335	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta			20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCCGTGCCCGGCTCAGGCC	0.662000																								0							SO:0001583	missense			ENST00000378585.4	1	1	hg19	CCDS36.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.752	0.703535	0.15172	2.27E-4	0.0	ENSG00000187730	ENST00000378585	D	0.85088	-1.94	3.82	0.383	0.16239	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.159450	0.01848	N	0.035703	T	0.68622	0.3021	N	0.08118	0	0.09310	N	0.999999	P	0.46327	0.876	B	0.34452	0.183	T	0.66143	-0.5997	10	0.72032	D	0.01	-6.4253	6.0845	0.19960	0.4046:0.4988:0.0:0.0966	.	418	O14764	GBRD_HUMAN	W	418	ENSP00000367848:R418W	ENSP00000367848:R418W	R	+	1	2	GABRD	1951474	0.065000	0.20965	0.005000	0.12908	0.110000	0.19582	1.570000	0.36439	0.241000	0.21283	-0.325000	0.08501	CGG		TCGA-IB-7651-01A-11D-2154-08	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	0	0	0	50	514	0	128	0	2.324890e-02	0	3	0	128	2		0	0	0	0	0	2	1	1	49	508	0	126	2								-2.744762	1	1	121114	9	44	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.880000	0.690000	1.000000	0.940000	0.882888	0.880000	1	7.900000e-01	9.700000e-01
KCNT2	343450	broad.mit.edu	37	1	196227349	196227349	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196227349G>T	ENST00000294725.9	-	26	4101	c.3186C>A	c.(3184-3186)caC>caA	p.H1062Q	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.H995Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.H1038Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2			97					AAAGACCCAAGTGTTTCATTC	0.378000																								0							SO:0001583	missense			ENST00000294725.9	1	1	hg19	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295257	0.40594	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18502	2.21;2.24;2.51	5.96	4.07	0.47477	.	0.089437	0.48767	D	0.000168	T	0.40222	0.1108	M	0.79805	2.47	0.80722	D	1	D;D;D;P	0.67145	0.996;0.973;0.973;0.716	D;P;P;B	0.66497	0.944;0.726;0.726;0.221	T	0.34950	-0.9808	10	0.51188	T	0.08	-18.9987	12.1512	0.54051	0.1908:0.0:0.8092:0.0	.	1027;1038;995;1062	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	1038;996;1062	ENSP00000356403:H1038Q;ENSP00000356401:H996Q;ENSP00000294725:H1062Q	ENSP00000294725:H1062Q	H	-	3	2	KCNT2	194493972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.931000	0.28871	1.518000	0.48934	0.643000	0.83706	CAC		TCGA-IB-7651-01A-11D-2154-08	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	1	0	1	101	326	0	68	0	5.228109e-01	0	7	0	68	2		0	0	0	0	0	2	1	1	101	319	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNT2	343450	broad.mit.edu	37	1	196254830	196254830	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196254830C>A	ENST00000294725.9	-	23	3569	c.2654G>T	c.(2653-2655)gGg>gTg	p.G885V	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.G811V|KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.G861V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2			97					AAACACCCTCCCAGCAGCAAA	0.368000																								0							SO:0001583	missense			ENST00000294725.9	1	1	hg19	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588233	0.86851	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78707	-1.2;-1.2;-1.2	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	D	0.90164	0.6926	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.999;0.999	D;D;D;D;D	0.74023	0.935;0.982;0.971;0.982;0.935	D	0.91274	0.5046	10	0.87932	D	0	-17.9902	18.8872	0.92383	0.0:1.0:0.0:0.0	.	885;843;861;811;885	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	V	861;811;885	ENSP00000356403:G861V;ENSP00000356401:G811V;ENSP00000294725:G885V	ENSP00000294725:G885V	G	-	2	0	KCNT2	194521453	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.201000	0.77847	2.835000	0.97688	0.591000	0.81541	GGG		TCGA-IB-7651-01A-11D-2154-08	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	0	0	0	9	242	0	35	0	3.971778e-02	0	8	0	35	2		0	0	0	0	0	2	1	9.938078e-01	9	236	0	35	2								-3.078957	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.470000	0.230000	0.810000	0.450000	0.497730	0.470000	0	3.400000e-01	6.400000e-01
AKR7A2	8574	broad.mit.edu	37	1	19633502	19633502	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19633502C>A	ENST00000235835.3	-	5	803	c.782G>T	c.(781-783)aGg>aTg	p.R261M	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)			9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			TCACCGATTCCTGTAGGTCTC	0.582000																								0							SO:0001583	missense			ENST00000235835.3	1	1	hg19	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275329	0.59649	.	.	ENSG00000053371	ENST00000235835;ENST00000330072	T;T	0.04234	3.67;3.67	5.17	4.2	0.49525	NADP-dependent oxidoreductase domain (3);	0.048149	0.85682	D	0.000000	T	0.11537	0.0281	M	0.74881	2.28	0.46678	D	0.999159	B	0.28128	0.201	B	0.37387	0.248	T	0.02320	-1.1177	10	0.62326	D	0.03	.	14.3693	0.66828	0.1478:0.8522:0.0:0.0	.	261	O43488	ARK72_HUMAN	M	261;216	ENSP00000235835:R261M;ENSP00000339084:R216M	ENSP00000235835:R261M	R	-	2	0	AKR7A2	19506089	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.489000	0.53237	2.553000	0.86117	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	0	0	1	70	531	0	139	1	1	51	186	0	139	2		0	0	0	0	0	2	1	1	66	509	0	138	2								-3.142702	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.957635	0.960000	1	9.100000e-01	9.900000e-01
CFH	3075	broad.mit.edu	37	1	196642123	196642123	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196642123C>A	ENST00000359637.2	+	2	136	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CFH_ENST00000439155.2_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000367429.4_Missense_Mutation_p.P25H			P08603	CFAH_HUMAN	complement factor H			101					AATGAACTTCCTCCAAGAAGA	0.348000																								0							SO:0001583	missense			ENST00000359637.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517558	0.44763	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.69040	1.33;1.25;-0.37	4.99	4.99	0.66335	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.81795	0.4898	M	0.80183	2.485	0.34804	D	0.73707	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.88067	0.2798	9	0.72032	D	0.01	.	13.7649	0.62988	0.0:1.0:0.0:0.0	.	25;25;25;25	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	25	ENSP00000356399:P25H;ENSP00000402656:P25H;ENSP00000352658:P25H	ENSP00000352658:P25H	P	+	2	0	CFH	194908746	1.000000	0.71417	0.985000	0.45067	0.158000	0.22134	3.997000	0.57016	2.321000	0.78463	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	1	0	1	33	233	0	51	1	1	33	243	0	51	2		0	0	0	0	0	2	1	1	32	228	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999744	0.990000	1	9.900000e-01	1
CFH	3075	broad.mit.edu	37	1	196659307	196659307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196659307C>T	ENST00000359637.2	+	8	1144	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	CFH_ENST00000439155.2_Missense_Mutation_p.A425V|CFH_ENST00000367429.4_Missense_Mutation_p.A425V			P08603	CFAH_HUMAN	complement factor H			101					CTTCCAAAAGCGCAGACCACA	0.433000																								0							SO:0001583	missense			ENST00000359637.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	10.93	1.491258	0.26774	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64803	-0.12;-0.12;-0.12	4.69	-9.33	0.00639	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33265	0.0857	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.34161	0.243;0.439;0.234;0.034	B;B;B;B	0.27380	0.074;0.079;0.026;0.011	T	0.19353	-1.0308	9	0.31617	T	0.26	.	7.1467	0.25587	0.214:0.0964:0.5946:0.095	.	361;425;425;425	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	V	425;425;425;361	ENSP00000356399:A425V;ENSP00000402656:A425V;ENSP00000352658:A361V	ENSP00000352658:A361V	A	+	2	0	CFH	194925930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.015000	0.03637	-1.894000	0.01105	-3.539000	0.00031	GCG		TCGA-IB-7651-01A-11D-2154-08	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	1	0	1	80	249	0	66	1	1	23	286	0	66	2		0	0	0	0	0	2	1	1	79	246	0	63	2								-4.822793	1	1	121366	1	29	1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CFH	3075	broad.mit.edu	37	1	196684801	196684801	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196684801A>T	ENST00000367429.4	+	11	1838	c.1598A>T	c.(1597-1599)gAc>gTc	p.D533V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H			101					gacacattGGACTATGAATGC	0.363000																								0							SO:0001583	missense			ENST00000367429.4	1	1	hg19	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985538	0.35036	.	.	ENSG00000000971	ENST00000367429	T	0.63255	-0.03	5.65	4.51	0.55191	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.60818	0.2298	M	0.87456	2.885	0.80722	D	1	P	0.37370	0.592	B	0.34452	0.183	T	0.58002	-0.7713	9	0.15499	T	0.54	.	8.9973	0.36061	0.8355:0.0:0.0:0.1645	.	533	P08603	CFAH_HUMAN	V	533	ENSP00000356399:D533V	ENSP00000356399:D533V	D	+	2	0	CFH	194951424	0.963000	0.33076	0.949000	0.38748	0.025000	0.11179	2.018000	0.40991	0.943000	0.37553	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	0	0	0	30	671	1	124	0	7.520562e-01	2	253	1	124	9		0	0	0	0	0	2	1	1	30	662	0	123	2								-4.857476	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.540000	0.370000	0.750000	0.540000	0.560270	0.540000	0	4.500000e-01	6.500000e-01
CFHR1	3078	broad.mit.edu	37	1	196800998	196800998	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196800998C>A	ENST00000320493.5	+	6	950	c.862C>A	c.(862-864)Ctt>Att	p.L288I	CFHR1_ENST00000367424.4_Missense_Mutation_p.L229I|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1			11					CAAACAGAAGCTTTATTTGAG	0.368000																								0							SO:0001583	missense			ENST00000320493.5	1	1	hg19	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.387448	0.01194	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.64618	-0.11;-0.11	2.77	-5.55	0.02536	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.33904	0.0879	L	0.33668	1.02	0.09310	N	1	P;B	0.34892	0.474;0.234	B;B	0.28232	0.073;0.087	T	0.27157	-1.0082	9	0.10377	T	0.69	.	0.6071	0.00755	0.3528:0.1825:0.1121:0.3526	.	288;1189	Q03591;A8K5T0	FHR1_HUMAN;.	I	229;288	ENSP00000356394:L229I;ENSP00000314299:L288I	ENSP00000314299:L288I	L	+	1	0	CFHR1	195067621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.446000	0.00232	-3.448000	0.00161	-1.639000	0.00775	CTT		TCGA-IB-7651-01A-11D-2154-08	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	1	0	1	109	200	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	107	194	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.190011	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CFHR2	3080	broad.mit.edu	37	1	196920108	196920108	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196920108T>G	ENST00000367415.5	+	3	480	c.380T>G	c.(379-381)aTt>aGt	p.I127S	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S|CFHR2_ENST00000476712.2_Missense_Mutation_p.I111S	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2			6					GAGAACAACATTTCATGTGTA	0.388000																								0							SO:0001583	missense			ENST00000367415.5	1	1	hg19	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.962534	0.34659	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.67698	-0.28;-0.28	2.77	1.59	0.23543	Complement control module (2);Sushi/SCR/CCP (3);	0.234704	0.21634	N	0.071425	T	0.75679	0.3882	M	0.77313	2.365	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62153	-0.6914	10	0.33940	T	0.23	.	4.5334	0.12017	0.0:0.1685:0.0:0.8315	.	127	P36980	FHR2_HUMAN	S	127	ENSP00000356391:I127S;ENSP00000356385:I127S	ENSP00000356385:I127S	I	+	2	0	CFHR2	195186731	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.947000	0.29082	0.268000	0.21939	0.352000	0.21897	ATT		TCGA-IB-7651-01A-11D-2154-08	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	0	0	0	12	444	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.989875e-01	13	431	0	56	2								-3.432938	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.390000	0.190000	1.000000	0.340000	0.508634	0.390000	0	2.700000e-01	1
F13B	2165	broad.mit.edu	37	1	197032070	197032070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197032070G>A	ENST00000367412.1	-	2	225	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide			66					GGTATAACCAGCCAAGCAGAA	0.398000																								0							SO:0001583	missense			ENST00000367412.1	1	1	hg19	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080272	0.55753	.	.	ENSG00000143278	ENST00000367412	T	0.65732	-0.17	5.58	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (2);	0.256433	0.20618	N	0.088835	T	0.56232	0.1971	L	0.52364	1.645	0.47862	D	0.999535	B	0.26400	0.148	B	0.31614	0.133	T	0.49854	-0.8895	10	0.18710	T	0.47	.	12.4304	0.55571	0.1397:0.0:0.8603:0.0	.	61	P05160	F13B_HUMAN	V	61	ENSP00000356382:A61V	ENSP00000356382:A61V	A	-	2	0	F13B	195298693	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.868000	0.48436	1.363000	0.46019	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	1	0	1	92	840	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	1	90	831	0	160	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999804	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197069629	197069629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197069629C>A	ENST00000367409.4	-	18	9008	c.8752G>T	c.(8752-8754)Gct>Tct	p.A2918S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					TTACTTCTAGCTTGAATAATG	0.299000																								0							SO:0001583	missense			ENST00000367409.4	1	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081809	0.36758	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72394	-0.65	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000004	T	0.81202	0.4773	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.87578	0.642;0.998	T	0.77440	-0.2587	10	0.20519	T	0.43	.	13.7795	0.63075	0.1536:0.8464:0.0:0.0	.	904;2918	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2918;904	ENSP00000356379:A2918S	ENSP00000356376:A904S	A	-	1	0	ASPM	195336252	0.993000	0.37304	0.996000	0.52242	0.374000	0.29953	0.671000	0.25172	2.530000	0.85305	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1	28	179	0	38	0	1.990442e-01	1	5	0	38	2		0	0	0	0	0	2	1	1	28	179	0	38	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999923	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197071117	197071117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197071117G>A	ENST00000367409.4	-	18	7520	c.7264C>T	c.(7264-7266)Ctg>Ttg	p.L2422L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					CTCCTCACCAGTAATGATCTA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000367409.4	1	1	hg19	CCDS1389.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1	103	559	0	102	0	6.631933e-02	0	3	0	102	2		0	0	0	0	0	2	1	1	101	553	0	101	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197072431	197072431	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072431G>T	ENST00000367409.4	-	18	6206	c.5950C>A	c.(5950-5952)Cat>Aat	p.H1984N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					TGTTGCACATGCATTCTATAG	0.358000																								0							SO:0001583	missense			ENST00000367409.4	1	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.501171	0.64298	.	.	ENSG00000066279	ENST00000367409	T	0.27720	1.65	5.6	-3.33	0.04958	.	0.583413	0.16663	N	0.204686	T	0.42314	0.1197	M	0.75264	2.295	0.80722	D	1	P	0.38048	0.616	P	0.48334	0.574	T	0.51834	-0.8655	10	0.46703	T	0.11	.	15.0708	0.72034	0.2856:0.0:0.7144:0.0	.	1984	Q8IZT6	ASPM_HUMAN	N	1984	ENSP00000356379:H1984N	ENSP00000356379:H1984N	H	-	1	0	ASPM	195339054	0.980000	0.34600	0.072000	0.20136	0.991000	0.79684	0.295000	0.19065	-0.614000	0.05687	0.645000	0.84053	CAT		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1	180	678	0	129	0	4.438534e-02	1	1	0	129	2		0	0	0	0	0	2	1	1	176	665	0	128	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197072533	197072533	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072533C>A	ENST00000367409.4	-	18	6104	c.5848G>T	c.(5848-5850)Gcg>Tcg	p.A1950S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					ACCAGTACCGCATGACGGAGT	0.393000																								0							SO:0001583	missense			ENST00000367409.4	1	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473039	0.26423	.	.	ENSG00000066279	ENST00000367409	T	0.70516	-0.49	5.62	4.71	0.59529	.	0.240301	0.35013	N	0.003508	T	0.59569	0.2203	L	0.45470	1.425	0.37067	D	0.898363	B	0.22909	0.077	B	0.21360	0.034	T	0.60566	-0.7238	10	0.40728	T	0.16	.	6.0909	0.19993	0.2775:0.5876:0.0:0.1349	.	1950	Q8IZT6	ASPM_HUMAN	S	1950	ENSP00000356379:A1950S	ENSP00000356379:A1950S	A	-	1	0	ASPM	195339156	0.133000	0.22466	0.040000	0.18447	0.002000	0.02628	0.843000	0.27640	1.372000	0.46190	-0.158000	0.13435	GCG		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1	286	841	0	203	0	2.690158e-01	1	3	0	203	2		0	0	0	0	0	2	1	1	282	818	0	202	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197072923	197072923	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072923G>A	ENST00000367409.4	-	18	5714	c.5458C>T	c.(5458-5460)Cta>Tta	p.L1820L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					TGTTTGATTAGCTGGCGTACT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000367409.4	1	1	hg19	CCDS1389.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	0	39	553	0	90	0	4.020882e-02	0	5	0	90	2		0	0	0	0	0	2	1	1	37	548	0	89	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.910000	0.630000	1.000000	1.000000	0.891273	0.910000	1	7.500000e-01	1
ASPM	259266	broad.mit.edu	37	1	197074013	197074013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197074013C>T	ENST00000367409.4	-	18	4624	c.4368G>A	c.(4366-4368)tgG>tgA	p.W1456*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					TTCTTAAATGCCATTCTCTAA	0.284000																								0							SO:0001587	stop_gained			ENST00000367409.4	0	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	44	11.166462	0.99525	.	.	ENSG00000066279	ENST00000367409	.	.	.	5.27	5.27	0.74061	.	0.172650	0.42172	D	0.000745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:1.0:0.0:0.0	.	.	.	.	X	1456	.	ENSP00000356379:W1456X	W	-	3	0	ASPM	195340636	1.000000	0.71417	0.958000	0.39756	0.821000	0.46438	5.308000	0.65768	2.636000	0.89361	0.484000	0.47621	TGG		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1	29	181	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1	29	179	0	41	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999955	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197091137	197091137	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197091137G>T	ENST00000367409.4	-	16	4034	c.3778C>A	c.(3778-3780)Ctt>Att	p.L1260I	ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I|ASPM_ENST00000367408.1_Missense_Mutation_p.L510I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					AGATCCAAAAGCCTTGCACAA	0.338000																								0							SO:0001583	missense			ENST00000367409.4	1	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981218	0.93044	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61392	0.11;0.11;0.11	5.74	5.74	0.90152	Calponin homology domain (2);	0.000000	0.64402	D	0.000007	T	0.80654	0.4664	M	0.86740	2.835	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.992	T	0.82592	-0.0381	10	0.62326	D	0.03	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	1260;1260	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	I	1260;1260;510	ENSP00000356379:L1260I;ENSP00000294732:L1260I;ENSP00000356378:L510I	ENSP00000294732:L1260I	L	-	1	0	ASPM	195357760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.960000	0.93117	2.714000	0.92807	0.585000	0.79938	CTT		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	0	14	184	0	35	0	3.193504e-02	1	3	0	35	2		0	0	0	0	0	2	1	9.997724e-01	14	182	0	34	2								-18.720130	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.560000	1.000000	1.000000	0.910441	0.990000	1	7.500000e-01	1
ASPM	259266	broad.mit.edu	37	1	197097665	197097665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197097665G>A	ENST00000367409.4	-	10	3147	c.2891C>T	c.(2890-2892)gCc>gTc	p.A964V	ASPM_ENST00000294732.7_Missense_Mutation_p.A964V|ASPM_ENST00000367408.1_Missense_Mutation_p.A214V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					ATTTGTAACGGCAAAATCAAA	0.398000																								0							SO:0001583	missense			ENST00000367409.4	1	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643470	0.96704	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59224	0.28;0.28;0.28	5.77	5.77	0.91146	Calponin homology domain (4);	0.076806	0.53938	D	0.000049	T	0.75824	0.3902	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.87578	0.859;0.998	T	0.75513	-0.3291	10	0.66056	D	0.02	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	964;964	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	964;964;214	ENSP00000356379:A964V;ENSP00000294732:A964V;ENSP00000356378:A214V	ENSP00000294732:A964V	A	-	2	0	ASPM	195364288	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.311000	0.96282	2.885000	0.99019	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1	94	497	1	96	1	2.480981e-01	3	3	1	96	2		0	0	0	0	0	2	1	1	91	486	1	94	20								-3.078359	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197099113	197099113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197099113C>T	ENST00000367409.4	-	8	2817	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	ASPM_ENST00000294732.7_Missense_Mutation_p.R854H|ASPM_ENST00000367408.1_Missense_Mutation_p.R104H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	p.R854H(1)		165					CCAAAGTAGGCGATTCAGAAT	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367409.4	0	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478088	0.96291	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60920	0.15;0.15;0.15	5.47	5.47	0.80525	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76315	-0.3004	10	0.46703	T	0.11	.	19.2852	0.94067	0.0:1.0:0.0:0.0	.	854;854	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	854;854;104	ENSP00000356379:R854H;ENSP00000294732:R854H;ENSP00000356378:R104H	ENSP00000294732:R854H	R	-	2	0	ASPM	195365736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.708000	0.92522	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	0	9	478	0	104	0	1.156790e-02	0	8	0	104	2		0	0	0	0	0	2	1	9.940857e-01	9	475	0	103	2								-2.915292	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.280000	0.120000	1.000000	0.230000	0.428793	0.280000	0	1.800000e-01	1
ASPM	259266	broad.mit.edu	37	1	197111833	197111833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197111833C>T	ENST00000367409.4	-	3	1805	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					CATCTTTTTGCTTTTGGTTTA	0.343000																								0							SO:0001583	missense			ENST00000367409.4	1	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004738	0.54254	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59906	0.23;1.49	5.44	3.31	0.37934	.	0.252448	0.34460	N	0.003950	T	0.50429	0.1615	M	0.66939	2.045	0.26256	N	0.97866	B;B	0.18461	0.012;0.028	B;B	0.20577	0.011;0.03	T	0.41197	-0.9522	10	0.33141	T	0.24	.	6.7476	0.23470	0.3664:0.5422:0.0:0.0914	.	517;517	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	T	517	ENSP00000356379:A517T;ENSP00000294732:A517T	ENSP00000294732:A517T	A	-	1	0	ASPM	195378456	1.000000	0.71417	0.905000	0.35620	0.985000	0.73830	4.067000	0.57527	1.437000	0.47472	-0.148000	0.13756	GCA		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1	162	845	0	124	0	2.507616e-01	1	5	0	124	2		0	0	0	0	0	2	1	1	158	831	0	123	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197112583	197112583	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197112583A>C	ENST00000367409.4	-	3	1055	c.799T>G	c.(799-801)Tca>Gca	p.S267A	ASPM_ENST00000294732.7_Missense_Mutation_p.S267A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					GAAACTTTTGAAACGTTGGCA	0.378000																								0							SO:0001583	missense			ENST00000367409.4	1	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	3.538	-0.094337	0.07053	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.57595	0.39;1.65	5.21	1.28	0.21552	.	1.694550	0.03164	N	0.169747	T	0.39091	0.1065	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.14615	-1.0466	10	0.35671	T	0.21	.	4.1352	0.10167	0.4431:0.3714:0.0741:0.1115	.	267;267	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	A	267	ENSP00000356379:S267A;ENSP00000294732:S267A	ENSP00000294732:S267A	S	-	1	0	ASPM	195379206	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.229000	0.17833	0.024000	0.15214	0.514000	0.50259	TCA		TCGA-IB-7651-01A-11D-2154-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	0	16	595	0	104	0	2.373440e-03	0	3	0	104	2		0	0	0	0	0	2	1	9.999231e-01	16	586	0	104	2								-13.492420	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.380000	0.210000	1.000000	0.340000	0.502532	0.380000	0	2.800000e-01	1
ZBTB41	360023	broad.mit.edu	37	1	197168633	197168633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197168633C>T	ENST00000367405.4	-	1	1039	c.971G>A	c.(970-972)aGt>aAt	p.S324N	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41			40					ATCCTTTTCACTTTGTTCTTC	0.418000																								0							SO:0001583	missense			ENST00000367405.4	1	1	hg19	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889621	0.52014	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.33	4.33	0.51752	.	0.000000	0.47093	U	0.000248	T	0.06096	0.0158	N	0.24115	0.695	0.36069	D	0.84197	P	0.47409	0.895	B	0.41332	0.354	T	0.48885	-0.8995	10	0.32370	T	0.25	.	16.9144	0.86148	0.0:1.0:0.0:0.0	.	324	Q5SVQ8	ZBT41_HUMAN	N	324	ENSP00000356375:S324N	ENSP00000356375:S324N	S	-	2	0	ZBTB41	195435256	0.998000	0.40836	0.960000	0.40013	0.873000	0.50193	2.775000	0.47702	1.947000	0.56498	0.298000	0.19748	AGT		TCGA-IB-7651-01A-11D-2154-08	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	1	0	1	93	441	0	93	1	9.814212e-01	6	26	0	93	2		0	0	0	0	0	2	1	1	92	433	0	93	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB41	360023	broad.mit.edu	37	1	197169467	197169467	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197169467T>G	ENST00000367405.4	-	1	205	c.137A>C	c.(136-138)gAa>gCa	p.E46A	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41			40					GTGAAGAGCTTCAGGAGTTGG	0.383000																								0							SO:0001583	missense			ENST00000367405.4	1	1	hg19	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612969	0.28712	.	.	ENSG00000177888	ENST00000367405	T	0.05925	3.37	4.96	3.83	0.44106	.	0.494524	0.16423	N	0.215093	T	0.03651	0.0104	N	0.14661	0.345	0.28586	N	0.9099	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.72032	D	0.01	.	2.4251	0.04457	0.1308:0.0884:0.2048:0.5761	.	46	Q5SVQ8	ZBT41_HUMAN	A	46	ENSP00000356375:E46A	ENSP00000356375:E46A	E	-	2	0	ZBTB41	195436090	0.989000	0.36119	0.794000	0.32065	0.968000	0.65278	1.307000	0.33516	0.732000	0.32470	0.254000	0.18369	GAA		TCGA-IB-7651-01A-11D-2154-08	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	1	0	1	80	424	0	106	1	9.925860e-01	10	32	0	106	2		0	0	0	0	0	2	1	1	77	417	0	105	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRB1	23418	broad.mit.edu	37	1	197297570	197297570	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297570A>C	ENST00000367400.3	+	2	224	c.89A>C	c.(88-90)aAc>aCc	p.N30T	CRB1_ENST00000367399.2_Missense_Mutation_p.N30T|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N30T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated			132					TGCAATAAAAACAACACCAGG	0.313000																								0							SO:0001583	missense			ENST00000367400.3	1	1	hg19	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259173	0.39995	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.91996	-2.95;-1.72;-2.17	5.52	5.52	0.82312	Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94961	0.8370	L	0.60957	1.885	0.80722	D	1	D;B;D;D	0.69078	0.997;0.066;0.997;0.996	D;B;D;P	0.77004	0.989;0.099;0.989;0.815	D	0.95103	0.8232	9	0.56958	D	0.05	.	15.9458	0.79792	1.0:0.0:0.0:0.0	.	30;30;30;55	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	T	30	ENSP00000438091:N30T;ENSP00000356370:N30T;ENSP00000356369:N30T	ENSP00000356369:N30T	N	+	2	0	CRB1	195564193	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	6.234000	0.72326	2.216000	0.71823	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1	54	196	0	53	0	4.830918e-02	0	2	0	53	2		0	0	0	0	0	2	1	1	54	193	0	52	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRB1	23418	broad.mit.edu	37	1	197297875	197297875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297875C>T	ENST00000367400.3	+	2	529	c.394C>T	c.(394-396)Cct>Tct	p.P132S	CRB1_ENST00000367399.2_Missense_Mutation_p.P132S|CRB1_ENST00000535699.1_Missense_Mutation_p.P63S|CRB1_ENST00000538660.1_Missense_Mutation_p.P132S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated			132					CCCTATTTATCCTGTCTGCAT	0.512000																								0							SO:0001583	missense			ENST00000367400.3	1	1	hg19	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974088	0.18736	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	T;D;D;D	0.91577	3.21;-2.22;-1.74;-2.87	5.73	5.73	0.89815	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90164	0.6926	N	0.12887	0.27	0.80722	D	1	D;D;B;D;D	0.89917	0.976;0.966;0.163;1.0;1.0	P;P;B;D;D	0.85130	0.772;0.64;0.102;0.997;0.986	D	0.91156	0.4957	9	0.72032	D	0.01	.	13.4768	0.61314	0.0:0.9285:0.0:0.0715	.	132;63;132;132;157	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	S	63;132;132;132	ENSP00000438786:P63S;ENSP00000438091:P132S;ENSP00000356370:P132S;ENSP00000356369:P132S	ENSP00000356369:P132S	P	+	1	0	CRB1	195564498	.	.	0.087000	0.20705	0.095000	0.18619	.	.	2.854000	0.98071	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1	27	132	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1	26	125	0	41	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CRB1	23418	broad.mit.edu	37	1	197298117	197298117	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197298117T>C	ENST00000367400.3	+	2	771	c.636T>C	c.(634-636)tgT>tgC	p.C212C	CRB1_ENST00000367399.2_Silent_p.C212C|CRB1_ENST00000535699.1_Silent_p.C143C|CRB1_ENST00000538660.1_Silent_p.C212C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated			132					CTTGTATCTGTCCCCACAATT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000367400.3	1	1	hg19	CCDS1390.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	0	53	145	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	53	143	0	39	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRB1	23418	broad.mit.edu	37	1	197316584	197316584	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197316584C>T	ENST00000367400.3	+	4	1098	c.963C>T	c.(961-963)gaC>gaT	p.D321D	CRB1_ENST00000543483.1_Silent_p.D20D|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Silent_p.D252D|CRB1_ENST00000538660.1_Silent_p.D321D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated			132					ACAGTGTTGACAATTACACTT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000367400.3	1	1	hg19	CCDS1390.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1	62	346	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	60	341	0	76	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRB1	23418	broad.mit.edu	37	1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197390735G>A	ENST00000367400.3	+	6	1912	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	p.A593T(1)		132					GAAATGCATCGCGAAAGCTCC	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367400.3	1	1	hg19	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650083	0.00785	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.84	-11.7	0.00046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.33000	0.0848	N	0.00419	-1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.0;0.002	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002	T	0.31420	-0.9944	9	0.08381	T	0.77	.	7.7285	0.28773	0.5034:0.0715:0.3537:0.0714	.	593;524;481;242;593	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	524;593;593;481;74;242	ENSP00000438786:A524T;ENSP00000438091:A593T;ENSP00000356370:A593T;ENSP00000356369:A481T;ENSP00000444556:A74T	ENSP00000356369:A481T	A	+	1	0	CRB1	195657358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-2.928000	0.00302	-2.912000	0.00091	GCG		TCGA-IB-7651-01A-11D-2154-08	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	0	61	683	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	59	678	0	109	2								-14.978730	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.840000	1.000000	1.000000	0.983657	0.990000	1	9.600000e-01	1
CRB1	23418	broad.mit.edu	37	1	197396679	197396679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197396679T>C	ENST00000367400.3	+	7	2359	c.2224T>C	c.(2224-2226)Ttt>Ctt	p.F742L	CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L|CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.F123L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated			132					CCTCTCCATGTTTGTCCGAAC	0.473000																								0							SO:0001583	missense			ENST00000367400.3	1	1	hg19	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223179	0.58668	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.75	3.43	0.39272	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.81327	0.4799	L	0.55990	1.75	0.58432	D	0.999994	D;D;P;D	0.76494	0.999;0.99;0.889;0.997	D;D;B;D	0.77557	0.99;0.979;0.399;0.97	T	0.75952	-0.3136	9	0.10111	T	0.7	.	10.1145	0.42583	0.0:0.1356:0.0:0.8644	.	673;630;391;742	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	673;742;630;223;123;391	ENSP00000438786:F673L;ENSP00000356370:F742L;ENSP00000356369:F630L;ENSP00000444556:F223L;ENSP00000356367:F123L	ENSP00000356367:F123L	F	+	1	0	CRB1	195663302	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	4.662000	0.61525	0.438000	0.26450	-0.297000	0.09499	TTT		TCGA-IB-7651-01A-11D-2154-08	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1	63	204	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	62	200	0	47	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRB1	23418	broad.mit.edu	37	1	197397131	197397131	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197397131G>T	ENST00000367400.3	+	7	2811	c.2676G>T	c.(2674-2676)aaG>aaT	p.K892N	CRB1_ENST00000367399.2_Splice_Site_p.K780N|CRB1_ENST00000544212.1_Splice_Site_p.K373N|CRB1_ENST00000535699.1_Splice_Site_p.K823N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Splice_Site_p.K273N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated			132					ACAGCTGCAAGGTAATGATTA	0.323000																								0							SO:0001630	splice_region_variant			ENST00000367400.3	0	1	hg19	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	6.139	0.393892	0.11638	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.91464	-2.05;-2.85;-2.85;-2.85;-2.85	4.98	4.06	0.47325	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.85159	0.5633	L	0.28054	0.825	0.43598	D	0.995957	P;B;B;P	0.47841	0.51;0.277;0.055;0.901	B;B;B;P	0.47941	0.333;0.1;0.041;0.562	T	0.80500	-0.1355	9	0.21540	T	0.41	.	8.4454	0.32838	0.0786:0.0:0.7683:0.1531	.	823;780;541;892	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	823;892;780;373;273;541	ENSP00000438786:K823N;ENSP00000356370:K892N;ENSP00000356369:K780N;ENSP00000444556:K373N;ENSP00000356367:K273N	ENSP00000356367:K273N	K	+	3	2	CRB1	195663754	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	1.771000	0.38542	1.209000	0.43321	0.555000	0.69702	AAG		TCGA-IB-7651-01A-11D-2154-08	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	0	0	0	6	308	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.643167e-01	6	305	0	42	2								-6.559204	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.300000	0.110000	1.000000	0.250000	0.445192	0.300000	0	1.900000e-01	1
CRB1	23418	broad.mit.edu	37	1	197404736	197404736	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197404736T>G	ENST00000367400.3	+	9	3878	c.3743T>G	c.(3742-3744)tTt>tGt	p.F1248C	RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C|CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000367397.1_Missense_Mutation_p.F629C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated			132					ACAGGAAAATTTTGCAGGTGA	0.408000																								0							SO:0001583	missense			ENST00000367400.3	1	1	hg19	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212885	0.58452	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.91631	-2.88;-2.1;-2.88;-2.88;-2.88;-2.88	5.19	4.04	0.47022	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94258	0.8156	L	0.56769	1.78	0.33311	D	0.566073	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.998;0.998	P;D;D;D;P	0.85130	0.817;0.961;0.997;0.911;0.872	D	0.94319	0.7552	9	0.39692	T	0.17	.	11.3341	0.49494	0.1362:0.0:0.0:0.8638	.	712;1224;1136;897;1248	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	C	1224;712;1248;1136;729;629;897	ENSP00000438786:F1224C;ENSP00000438091:F712C;ENSP00000356370:F1248C;ENSP00000356369:F1136C;ENSP00000444556:F729C;ENSP00000356367:F629C	ENSP00000356367:F629C	F	+	2	0	CRB1	195671359	0.948000	0.32251	0.967000	0.41034	0.975000	0.68041	4.295000	0.59049	0.787000	0.33731	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	1	0	1	12	80	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.992873e-01	11	80	0	24	2								-19.935950	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.997188	0.990000	1	9.900000e-01	1
C1orf53	388722	broad.mit.edu	37	1	197875015	197875015	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197875015T>C	ENST00000367393.3	+	2	357	c.354T>C	c.(352-354)tcT>tcC	p.S118S	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53			2					GTTGTGGCTCTGCGTGCAGAC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000367393.3	1	1	hg19	CCDS44290.1	.	.	.	.	.	.	.	.	.	.	T	8.075	0.771042	0.16051	.	.	ENSG00000203724	ENST00000436652	.	.	.	5.73	-10.2	0.00374	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	-5.4769	1.0786	0.01638	0.193:0.3039:0.198:0.305	.	.	.	.	R	55	.	.	C	+	1	0	C1orf53	196141638	0.023000	0.18921	0.698000	0.30274	0.812000	0.45895	-1.303000	0.02743	-1.811000	0.01229	0.533000	0.62120	TGC		TCGA-IB-7651-01A-11D-2154-08	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	1	0	1	153	430	0	132	1	9.996884e-01	15	21	0	132	2		0	0	0	0	0	2	1	1	148	420	0	132	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEK7	140609	broad.mit.edu	37	1	198201767	198201767	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198201767G>T	ENST00000367385.4	+	2	399	c.57G>T	c.(55-57)caG>caT	p.Q19H	NEK7_ENST00000417895.1_3'UTR|NEK7_ENST00000367383.1_Splice_Site_p.Q19H|NEK7_ENST00000538004.1_Splice_Site_p.Q19H	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7			21					TCCAACCACAGGTAATTTATC	0.363000																								0							SO:0001630	splice_region_variant			ENST00000367385.4	1	0	hg19	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760669	0.69763	.	.	ENSG00000151414	ENST00000367385;ENST00000442588;ENST00000538004;ENST00000367383;ENST00000544035;ENST00000391974	T;T;T;T;T	0.54866	1.08;1.08;0.7;0.55;3.15	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	N	0.19112	0.55	0.80722	D	1	D	0.57571	0.98	P	0.53593	0.73	T	0.52830	-0.8523	10	0.52906	T	0.07	.	15.5342	0.75990	0.0:0.0:1.0:0.0	.	19	Q8TDX7	NEK7_HUMAN	H	19	ENSP00000356355:Q19H;ENSP00000444621:Q19H;ENSP00000356353:Q19H;ENSP00000439095:Q19H;ENSP00000375835:Q19H	ENSP00000356353:Q19H	Q	+	3	2	NEK7	196468390	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.677000	0.68142	2.753000	0.94483	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	1	0	1	70	182	0	50	1	1	3	73	0	50	2		0	0	0	0	0	2	1	1	69	179	0	49	2								-5.807974	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRC	5788	broad.mit.edu	37	1	198687417	198687417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198687417G>A	ENST00000367376.2	+	14	1810	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C			111					ATATTCAACAGACTACACTTT	0.328000																								0							SO:0001583	missense			ENST00000367376.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	0.270	-0.993669	0.02145	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.56103	0.48	4.52	-9.04	0.00734	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.959790	0.02323	N	0.073205	T	0.23492	0.0568	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.14023	0.005;0.01;0.002;0.002;0.002	T	0.18085	-1.0348	10	0.21540	T	0.41	.	4.5056	0.11885	0.5134:0.169:0.2316:0.086	.	483;483;388;499;547	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	N	549;483;499;499;433;547;481;386	ENSP00000193532:D499N	ENSP00000306782:D386N	D	+	1	0	PTPRC	196954040	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.417000	0.02464	-3.012000	0.00272	-4.551000	0.00004	GAC		TCGA-IB-7651-01A-11D-2154-08	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	25	95	0	31	0	1	0	176	0	31	2		0	0	0	0	0	2	1	9.999999e-01	25	94	0	31	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRC	5788	broad.mit.edu	37	1	198718653	198718653	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198718653A>C	ENST00000367376.2	+	28	3212	c.3041A>C	c.(3040-3042)aAa>aCa	p.K1014T	PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T|PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T|PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C			111					GAACCAAGCAAATACATCAAT	0.348000																								0							SO:0001583	missense			ENST00000367376.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	18.28	3.588355	0.66105	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13307	2.6	5.82	2.25	0.28309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.125027	0.35936	N	0.002887	T	0.17874	0.0429	N	0.17901	0.54	0.44295	D	0.997169	D;D;D	0.57899	0.981;0.981;0.961	P;P;P	0.62740	0.906;0.906;0.875	T	0.01212	-1.1417	10	0.62326	D	0.03	.	9.6267	0.39754	0.7274:0.0:0.2726:0.0	.	855;966;1014	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	T	1016;966;1014;853	ENSP00000193532:K966T	ENSP00000306782:K853T	K	+	2	0	PTPRC	196985276	0.958000	0.32768	0.969000	0.41365	0.763000	0.43281	0.284000	0.18864	0.131000	0.18576	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	51	203	0	41	0	1	0	209	0	41	2		0	0	0	0	0	2	1	1	51	200	0	41	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR6	3362	broad.mit.edu	37	1	19992447	19992447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19992447G>A	ENST00000289753.1	+	1	668	c.201G>A	c.(199-201)tcG>tcA	p.S67S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled			13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TCCTGGTGTCGCTCTTCACGT	0.682000													Esophageal Squamous(168;1879 2619 6848 21062)											0							SO:0001819	synonymous_variant			ENST00000289753.1	1	1	hg19	CCDS197.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	1	0	1	23	194	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.999995e-01	23	190	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.900000	0.660000	1.000000	0.990000	0.885421	0.900000	1	7.800000e-01	9.800000e-01
TMCO4	255104	broad.mit.edu	37	1	20009753	20009753	+	Missense_Mutation	SNP	G	G	A	rs144713907	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20009753G>A	ENST00000294543.6	-	16	1926	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4			19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			GGGACCCTGGGTTTGCCCAAC	0.667000																								0							SO:0001583	missense			ENST00000294543.6	1	1	hg19	CCDS198.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.15	1.553797	0.27739	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.32515	1.46;1.45	4.61	-0.938	0.10412	.	1.360170	0.05067	N	0.480974	T	0.17662	0.0424	L	0.27053	0.805	0.09310	N	1	P;B	0.36438	0.553;0.002	B;B	0.33042	0.157;0.005	T	0.12041	-1.0563	10	0.40728	T	0.16	-13.7287	1.5066	0.02487	0.1655:0.1313:0.3009:0.4022	.	562;522	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	I	562;522	ENSP00000294543:T562I;ENSP00000364264:T522I	ENSP00000294543:T562I	T	-	2	0	TMCO4	19882340	0.000000	0.05858	0.007000	0.13788	0.098000	0.18820	-0.220000	0.09215	-0.415000	0.07484	-0.140000	0.14226	ACC		TCGA-IB-7651-01A-11D-2154-08	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	1	0	1	101	354	0	91	1	9.999513e-01	17	36	0	91	2		0	0	0	0	0	2	1	1	101	353	0	89	2								-20.000000	1	1	121412	1	32	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988845	0.980000	1	9.700000e-01	1
ZNF281	23528	broad.mit.edu	37	1	200376162	200376162	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200376162C>A	ENST00000294740.3	-	2	2796	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	ZNF281_ENST00000367352.3_Missense_Mutation_p.S855I|ZNF281_ENST00000367353.1_Missense_Mutation_p.S891I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281			27					GTAACTCTGGCTGGTGGGTGT	0.418000																								0							SO:0001583	missense			ENST00000294740.3	1	1	hg19	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369378	0.61624	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.15139	2.45;2.45;2.47	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.05818	-1.0862	10	0.87932	D	0	-18.5336	19.5851	0.95487	0.0:1.0:0.0:0.0	.	855;891	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	891;891;855;596	ENSP00000294740:S891I;ENSP00000356322:S891I;ENSP00000356321:S855I	ENSP00000294740:S891I	S	-	2	0	ZNF281	198642785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.618000	0.88619	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	0	0	0	19	588	1	106	1	2.192018e-01	5	91	1	106	5		0	0	0	0	0	2	1	5.320690e-01	19	573	1	104	19								-3.399065	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.450000	0.260000	1.000000	0.410000	0.554065	0.450000	0	3.400000e-01	1
ZNF281	23528	broad.mit.edu	37	1	200377323	200377323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200377323C>T	ENST00000294740.3	-	2	1635	c.1511G>A	c.(1510-1512)gGc>gAc	p.G504D	ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D|ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281			27					TGATACTATGCCAAGTGAGCC	0.383000																								0							SO:0001583	missense			ENST00000294740.3	1	1	hg19	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.556407	0.00910	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.26518	1.73;1.73;1.73	5.63	5.63	0.86233	.	0.173579	0.49305	D	0.000144	T	0.11793	0.0287	N	0.05383	-0.06	0.40018	D	0.975371	B;B	0.25272	0.122;0.122	B;B	0.23852	0.049;0.049	T	0.09037	-1.0693	10	0.02654	T	1	-8.8136	12.9562	0.58430	0.0:0.9262:0.0:0.0738	.	468;504	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	504;504;468;209	ENSP00000294740:G504D;ENSP00000356322:G504D;ENSP00000356321:G468D	ENSP00000294740:G504D	G	-	2	0	ZNF281	198643946	1.000000	0.71417	0.975000	0.42487	0.945000	0.59286	4.300000	0.59079	2.641000	0.89580	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	0	0	1	90	395	1	75	1	9.868933e-01	4	46	1	75	4		0	0	0	0	0	2	1	1	90	390	1	73	21								-3.429566	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF14	9928	broad.mit.edu	37	1	200524583	200524583	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200524583C>T	ENST00000367350.4	-	28	4792		c.e28-1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14			61					CTTTGGTAACCTATAGAGAAT	0.269000																								0							SO:0001630	splice_region_variant			ENST00000367350.4	1	1	hg19	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222434	0.58668	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5612	0.76249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF14	198791206	0.998000	0.40836	0.347000	0.25668	0.799000	0.45148	4.317000	0.59184	2.682000	0.91365	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	1	0	0	50	136	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	47	133	0	27	2								-4.836172	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF14	9928	broad.mit.edu	37	1	200544719	200544719	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200544719C>A	ENST00000367350.4	-	22	4004	c.3566G>T	c.(3565-3567)aGg>aTg	p.R1189M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14			61					TTGTCTTTACCTCCTTCTAGA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000367350.4	1	0	hg19	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874539	0.72180	.	.	ENSG00000118193	ENST00000367350	T	0.18502	2.21	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.71581	2.175	0.52099	D	0.999943	D	0.89917	1.0	D	0.71184	0.972	T	0.08106	-1.0738	9	.	.	.	.	11.4977	0.50419	0.0:0.9164:0.0:0.0836	.	1189	Q15058	KIF14_HUMAN	M	1189	ENSP00000356319:R1189M	.	R	-	2	0	KIF14	198811342	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.194000	0.51005	2.267000	0.75376	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	1	0	0	52	236	0	63	0	8.896610e-02	0	3	0	63	2		0	0	0	0	0	2	1	1	49	229	0	62	2								-3.426467	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX59	83479	broad.mit.edu	37	1	200628173	200628173	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200628173C>A	ENST00000331314.6	-	4	1257	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	DDX59_ENST00000447706.2_Missense_Mutation_p.K348N|DDX59_ENST00000367348.3_Missense_Mutation_p.K348N	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59			21					CTACCACAATCTTTACACCAC	0.308000																								0							SO:0001583	missense			ENST00000331314.6	1	1	hg19	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854626	0.32791	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.47528	0.84;0.84;0.84	5.74	-0.954	0.10359	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091215	0.85682	D	0.000000	T	0.54415	0.1857	L	0.49350	1.555	0.48395	D	0.999647	D;D	0.67145	0.996;0.992	D;P	0.63877	0.919;0.859	T	0.53012	-0.8498	10	0.54805	T	0.06	-22.3311	10.9624	0.47393	0.0:0.4521:0.0:0.5479	.	348;348	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	N	348	ENSP00000394367:K348N;ENSP00000356317:K348N;ENSP00000330460:K348N	ENSP00000330460:K348N	K	-	3	2	DDX59	198894796	1.000000	0.71417	0.222000	0.23844	0.272000	0.26649	0.765000	0.26546	-0.171000	0.10797	-0.781000	0.03364	AAG		TCGA-IB-7651-01A-11D-2154-08	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	1	0	1	88	487	0	113	1	9.979593e-01	10	43	0	113	2		0	0	0	0	0	2	1	1	85	480	0	113	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX59	83479	broad.mit.edu	37	1	200635067	200635067	+	Missense_Mutation	SNP	C	C	T	rs143810968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635067C>T	ENST00000331314.6	-	2	1015	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DDX59_ENST00000447706.2_Missense_Mutation_p.E268K|DDX59_ENST00000367348.3_Missense_Mutation_p.E268K	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59			21					ACACTTACCTCGAATAAAGCT	0.368000																								0							SO:0001583	missense			ENST00000331314.6	1	1	hg19	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692739	0.30052	2.27E-4	3.49E-4	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.14766	2.48;2.48;2.48	5.2	2.96	0.34315	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.434790	0.26418	N	0.024483	T	0.05547	0.0146	N	0.05487	-0.04	0.26589	N	0.973232	B;B	0.13145	0.002;0.007	B;B	0.12156	0.004;0.007	T	0.40346	-0.9568	10	0.08599	T	0.76	-24.0557	8.2557	0.31756	0.0:0.6967:0.1491:0.1542	.	268;268	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	K	268	ENSP00000394367:E268K;ENSP00000356317:E268K;ENSP00000330460:E268K	ENSP00000330460:E268K	E	-	1	0	DDX59	198901690	0.577000	0.26708	0.700000	0.30305	0.181000	0.23173	1.146000	0.31589	1.194000	0.43101	0.558000	0.71614	GAG		TCGA-IB-7651-01A-11D-2154-08	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	1	0	0	93	254	0	44	1	9.999999e-01	25	44	0	44	2		0	0	0	0	0	2	1	1	93	249	0	43	2								-6.152387	1	1	121412	26	44	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX59	83479	broad.mit.edu	37	1	200635738	200635738	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635738G>T	ENST00000331314.6	-	2	344	c.131C>A	c.(130-132)gCt>gAt	p.A44D	DDX59_ENST00000447706.2_Missense_Mutation_p.A44D|DDX59_ENST00000367348.3_Missense_Mutation_p.A44D|RP11-92G12.3_ENST00000568695.1_lincRNA	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59			21					TGTAGCTACAGCATCAACGGG	0.483000																								0							SO:0001583	missense			ENST00000331314.6	1	1	hg19	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086218	0.07097	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.45668	1.49;1.49;1.86;0.89	4.95	3.05	0.35203	.	0.565466	0.16340	N	0.218736	T	0.27629	0.0679	L	0.43152	1.355	0.09310	N	1	P;B	0.35077	0.483;0.22	B;B	0.27887	0.084;0.058	T	0.10989	-1.0606	10	0.21540	T	0.41	-0.1895	6.7808	0.23643	0.0857:0.0:0.5331:0.3812	.	44;44	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	D	44	ENSP00000394367:A44D;ENSP00000356317:A44D;ENSP00000330460:A44D;ENSP00000391312:A44D	ENSP00000330460:A44D	A	-	2	0	DDX59	198902361	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	0.328000	0.19681	0.494000	0.27859	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	1	0	1	107	506	0	99	1	9.999321e-01	7	60	0	99	2		0	0	0	0	0	2	1	1	105	494	0	98	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMCO4	255104	broad.mit.edu	37	1	20063940	20063940	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20063940G>T	ENST00000294543.6	-	13	1430	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T|TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4			19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			AAGGTGACAGGTCGTCGCCCC	0.517000																								0							SO:0001583	missense			ENST00000294543.6	1	1	hg19	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314938	0.81358	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.61040	0.14;0.14;0.14	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87410	0.2375	10	0.87932	D	0	-10.5998	16.9883	0.86346	0.0:0.0:1.0:0.0	.	397	Q5TGY1	TMCO4_HUMAN	T	397;397;357	ENSP00000294543:P397T;ENSP00000364269:P397T;ENSP00000364264:P357T	ENSP00000294543:P397T	P	-	1	0	TMCO4	19936527	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	8.868000	0.92320	2.689000	0.91719	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	1	0	1	70	325	0	73	1	9.999981e-01	38	53	0	73	2		0	0	0	0	0	2	1	1	70	321	0	71	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978887	0.980000	1	9.500000e-01	1
GPR25	2848	broad.mit.edu	37	1	200842741	200842741	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842741C>T	ENST00000304244.2	+	1	659	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25			5					GCCAGTGCGGCGAGGAGCCCT	0.711000																								0							SO:0001819	synonymous_variant			ENST00000304244.2	0	1	hg19	CCDS1405.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	0	0	0	10	131	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.970034e-01	10	129	0	13	2								-15.082320	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.510000	1.000000	1.000000	0.905077	0.990000	1	7.300000e-01	1
KIF21B	23046	broad.mit.edu	37	1	200959456	200959456	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200959456C>A	ENST00000422435.2	-	20	3156	c.2840G>T	c.(2839-2841)aGg>aTg	p.R947M	KIF21B_ENST00000332129.2_Missense_Mutation_p.R947M|KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M|KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B			83					CAGCTCCTCCCTTTTCTGGGG	0.637000																								0							SO:0001583	missense			ENST00000422435.2	1	1	hg19	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053658	0.93793	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.89746	-2.22;-2.52;-2.56;-2.25	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.59767	0.975;0.986;0.975;0.985	P;P;P;P	0.55161	0.466;0.621;0.594;0.77	D	0.94253	0.7495	10	0.87932	D	0	.	18.7361	0.91755	0.0:1.0:0.0:0.0	.	947;947;947;947	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	M	947	ENSP00000328494:R947M;ENSP00000353724:R947M;ENSP00000433808:R947M;ENSP00000411831:R947M	ENSP00000328494:R947M	R	-	2	0	KIF21B	199226079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.973000	0.56845	2.423000	0.82170	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	1	0	1	26	83	0	25	1	8.965460e-01	6	9	0	25	2		0	0	0	0	0	2	1	1	26	82	0	23	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF21B	23046	broad.mit.edu	37	1	200969089	200969089	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200969089G>A	ENST00000422435.2	-	12	2005	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	KIF21B_ENST00000332129.2_Silent_p.P563P|KIF21B_ENST00000461742.2_Silent_p.P563P|KIF21B_ENST00000360529.5_Silent_p.P563P	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B			83					CTTCCTTCTCGGGGCTGCTCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000422435.2	1	1	hg19	CCDS58056.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	1	0	1	113	329	0	83	1	9.974675e-01	7	22	0	83	2		0	0	0	0	0	2	1	1	102	322	0	83	2								-5.016001	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF21B	23046	broad.mit.edu	37	1	200974440	200974440	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200974440T>C	ENST00000422435.2	-	5	1044	c.728A>G	c.(727-729)gAc>gGc	p.D243G	KIF21B_ENST00000332129.2_Missense_Mutation_p.D243G|KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G|KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B			83					CCTCACCAGGTCGGGCTGGGT	0.622000																								0							SO:0001583	missense			ENST00000422435.2	1	1	hg19	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664022	0.47572	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.17	1.55	0.23275	Kinesin, motor domain (4);	0.390814	0.28977	N	0.013533	T	0.54951	0.1890	N	0.14661	0.345	0.52501	D	0.99995	B;B;B;B	0.23185	0.081;0.081;0.0;0.066	B;B;B;B	0.24269	0.052;0.052;0.001;0.031	T	0.45760	-0.9239	10	0.72032	D	0.01	.	8.1806	0.31309	0.0:0.3035:0.0:0.6965	.	243;243;243;243	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	243	ENSP00000328494:D243G;ENSP00000353724:D243G;ENSP00000433808:D243G;ENSP00000411831:D243G	ENSP00000328494:D243G	D	-	2	0	KIF21B	199241063	1.000000	0.71417	0.956000	0.39512	0.911000	0.54048	3.857000	0.55972	0.014000	0.14944	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	1	0	1	68	350	0	67	1	9.866919e-01	13	24	0	67	2		0	0	0	0	0	2	1	1	67	347	0	63	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF21B	23046	broad.mit.edu	37	1	200978481	200978481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200978481C>A	ENST00000422435.2	-	2	493	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KIF21B_ENST00000332129.2_Missense_Mutation_p.W59C|KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C|KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B			83					TCTGTTCTTGCCAGGTGTCCA	0.562000																								0							SO:0001583	missense			ENST00000422435.2	1	1	hg19	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955987	0.34471	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.53	4.53	0.55603	Kinesin, motor domain (4);	0.302314	0.33534	N	0.004803	T	0.59155	0.2173	N	0.01576	-0.805	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.983;0.992	P;P;P;P	0.60173	0.87;0.87;0.749;0.794	T	0.71656	-0.4527	10	0.56958	D	0.05	.	13.2344	0.59961	0.0:0.8405:0.1595:0.0	.	59;59;59;59	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	59	ENSP00000328494:W59C;ENSP00000353724:W59C;ENSP00000433808:W59C;ENSP00000411831:W59C	ENSP00000328494:W59C	W	-	3	0	KIF21B	199245104	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.063000	0.49978	2.341000	0.79615	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	1	0	1	79	227	0	58	1	9.957866e-01	14	13	0	58	2		0	0	0	0	0	2	1	1	76	224	0	58	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1S	779	broad.mit.edu	37	1	201010662	201010662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201010662G>A	ENST00000362061.3	-	41	5330	c.5104C>T	c.(5104-5106)Cga>Tga	p.R1702*	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit			102				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAAGGGCTCGTCCTCTGGTA	0.557000																								0							SO:0001587	stop_gained			ENST00000362061.3	0	1	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	46	12.097687	0.99636	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	.	.	.	4.51	3.6	0.41247	.	3.051100	0.01927	U	0.040939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	10.8773	0.46919	0.0:0.8087:0.1913:0.0	.	.	.	.	X	1702;1683	.	ENSP00000355192:R1702X	R	-	1	2	CACNA1S	199277285	1.000000	0.71417	0.997000	0.53966	0.028000	0.11728	0.826000	0.27407	1.278000	0.44430	-0.375000	0.07067	CGA		TCGA-IB-7651-01A-11D-2154-08	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1	21	141	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999983e-01	21	139	0	26	2								-20.000000	1	1	121412	11	39	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999489	0.990000	1	9.900000e-01	1
CACNA1S	779	broad.mit.edu	37	1	201031168	201031168	+	Missense_Mutation	SNP	C	C	T	rs140453525	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201031168C>T	ENST00000362061.3	-	24	3183	c.2957G>A	c.(2956-2958)cGt>cAt	p.R986H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit			102				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCGCGGTGACGCAGCTCTAT	0.602000																								0							SO:0001583	missense			ENST00000362061.3	1	1	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	5.823	0.336023	0.11013	6.81E-4	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98474	-4.95;-4.95	5.17	0.617	0.17619	Ion transport (1);	0.602245	0.18535	N	0.138397	D	0.94624	0.8267	L	0.37897	1.145	0.09310	N	0.999996	B	0.06786	0.001	B	0.10450	0.005	D	0.89262	0.3598	10	0.49607	T	0.09	.	6.3595	0.21420	0.0:0.4259:0.0:0.5741	.	986	Q13698	CAC1S_HUMAN	H	986	ENSP00000355192:R986H;ENSP00000356307:R986H	ENSP00000355192:R986H	R	-	2	0	CACNA1S	199297791	0.004000	0.15560	0.349000	0.25694	0.003000	0.03518	0.206000	0.17375	0.288000	0.22398	-0.736000	0.03550	CGT		TCGA-IB-7651-01A-11D-2154-08	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1	43	131	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	42	129	0	44	2								-20.000000	1	1	121412	16	43	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1S	779	broad.mit.edu	37	1	201035357	201035357	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035357C>A	ENST00000362061.3	-	21	2971	c.2745G>T	c.(2743-2745)aaG>aaT	p.K915N	CACNA1S_ENST00000367338.3_Splice_Site_p.K915N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit			102				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTCTCACCTTCAACCCCT	0.652000																								0							SO:0001630	splice_region_variant			ENST00000362061.3	1	0	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985117	0.74474	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98732	-5.1;-5.1	3.91	3.91	0.45181	Ion transport (1);	0.102561	0.64402	D	0.000004	D	0.99339	0.9768	H	0.97564	4.03	0.54753	D	0.999986	P	0.44877	0.845	P	0.56216	0.794	D	0.98563	1.0642	9	.	.	.	.	16.249	0.82472	0.0:1.0:0.0:0.0	.	915	Q13698	CAC1S_HUMAN	N	915	ENSP00000355192:K915N;ENSP00000356307:K915N	.	K	-	3	2	CACNA1S	199301980	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.979000	0.70508	1.884000	0.54569	0.455000	0.32223	AAG		TCGA-IB-7651-01A-11D-2154-08	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1	78	397	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	78	392	0	95	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1S	779	broad.mit.edu	37	1	201035407	201035407	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035407G>T	ENST00000362061.3	-	21	2921	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit			102				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCACCCTCAGCACCCTCAGG	0.652000																								0							SO:0001583	missense			ENST00000362061.3	1	1	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305376	0.60305	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.99089	-5.41;-5.41	3.91	2.98	0.34508	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99221	0.9729	M	0.88906	2.99	0.44976	D	0.997993	D	0.63046	0.992	D	0.74674	0.984	D	0.99572	1.0971	10	0.87932	D	0	.	11.5358	0.50636	0.0904:0.0:0.9096:0.0	.	899	Q13698	CAC1S_HUMAN	M	899	ENSP00000355192:L899M;ENSP00000356307:L899M	ENSP00000355192:L899M	L	-	1	2	CACNA1S	199302030	1.000000	0.71417	0.985000	0.45067	0.847000	0.48162	3.109000	0.50345	0.741000	0.32674	0.455000	0.32223	CTG		TCGA-IB-7651-01A-11D-2154-08	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1	90	442	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	90	436	0	118	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1S	779	broad.mit.edu	37	1	201052427	201052427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201052427C>T	ENST00000362061.3	-	10	1482	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit			102				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGAAAGATGCGGTTCCACTG	0.542000																								0							SO:0001583	missense			ENST00000362061.3	1	1	hg19	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000816	0.74818	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96913	-4.17;-4.08	4.59	4.59	0.56863	.	0.105688	0.64402	D	0.000003	D	0.97907	0.9312	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.98438	1.0585	10	0.54805	T	0.06	.	17.7262	0.88366	0.0:1.0:0.0:0.0	.	419	Q13698	CAC1S_HUMAN	H	419	ENSP00000355192:R419H;ENSP00000356307:R419H	ENSP00000355192:R419H	R	-	2	0	CACNA1S	199319050	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.694000	0.84235	2.232000	0.73038	0.643000	0.83706	CGC		TCGA-IB-7651-01A-11D-2154-08	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1	88	530	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	86	521	0	105	2								-3.221934	1	1	121412	3	41	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKP1	5317	broad.mit.edu	37	1	201252867	201252867	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201252867G>A	ENST00000352845.3	+	1	37	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	PKP1_ENST00000263946.3_Missense_Mutation_p.E13K|PKP1_ENST00000367324.3_Missense_Mutation_p.E13K			Q13835	PKP1_HUMAN	plakophilin 1			22					CTTGGCGTACGAATGCTTCCA	0.652000																								0							SO:0001583	missense			ENST00000352845.3	1	1	hg19	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109651	0.94292	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.61742	0.08;0.08;0.08	5.01	5.01	0.66863	.	3.864160	0.01113	N	0.005600	T	0.71787	0.3381	L	0.27053	0.805	0.42555	D	0.993128	D;D	0.89917	0.999;1.0	D;D	0.75484	0.982;0.986	T	0.56768	-0.7924	10	0.66056	D	0.02	-10.1207	16.4971	0.84248	0.0:0.0:1.0:0.0	.	13;13	Q13835-2;Q13835	.;PKP1_HUMAN	K	13	ENSP00000356293:E13K;ENSP00000263946:E13K;ENSP00000295597:E13K	ENSP00000263946:E13K	E	+	1	0	PKP1	199519490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.057000	0.71119	2.324000	0.78689	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	1	0	1	53	150	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	52	148	0	31	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKP1	5317	broad.mit.edu	37	1	201286865	201286865	+	Missense_Mutation	SNP	C	C	A	rs12562244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201286865C>A	ENST00000352845.3	+	5	1012	c.1012C>A	c.(1012-1014)Ctg>Atg	p.L338M	PKP1_ENST00000263946.3_Missense_Mutation_p.L338M|PKP1_ENST00000367324.3_Missense_Mutation_p.L338M|PKP1_ENST00000475988.1_3'UTR			Q13835	PKP1_HUMAN	plakophilin 1			22					AGTCAGCCTCCTGAGGAGAAC	0.652000																								0							SO:0001583	missense			ENST00000352845.3	0	1	hg19	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330338	0.81690	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.64260	-0.09;-0.09;-0.09	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.072941	0.56097	D	0.000023	T	0.80265	0.4591	M	0.85777	2.775	0.80722	D	1	D;D	0.58970	0.975;0.984	P;P	0.60415	0.874;0.867	D	0.83888	0.0283	10	0.87932	D	0	-6.6512	18.8834	0.92365	0.0:1.0:0.0:0.0	rs12562244	338;338	Q13835-2;Q13835	.;PKP1_HUMAN	M	338	ENSP00000356293:L338M;ENSP00000263946:L338M;ENSP00000295597:L338M	ENSP00000263946:L338M	L	+	1	2	PKP1	199553488	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.285000	0.58989	2.466000	0.83321	0.551000	0.68910	CTG		TCGA-IB-7651-01A-11D-2154-08	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	0	0	0	9	251	0	40	0	1.596378e-03	0	2	0	40	2		0	0	0	0	0	2	1	9.942467e-01	8	250	0	39	2								-10.359260	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.520000	0.240000	1.000000	0.450000	0.605106	0.520000	0	3.500000e-01	1
PKP1	5317	broad.mit.edu	37	1	201289433	201289433	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201289433G>A	ENST00000352845.3	+	8	1334	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	PKP1_ENST00000263946.3_Missense_Mutation_p.R445H|PKP1_ENST00000367324.3_Missense_Mutation_p.R424H			Q13835	PKP1_HUMAN	plakophilin 1			22					CAGACCATGCGTAACTACTCA	0.607000																								0							SO:0001583	missense			ENST00000352845.3	1	1	hg19	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202281	0.94997	0.0	1.16E-4	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.81247	-1.47;-1.47;-1.47	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92805	0.6259	10	0.87932	D	0	-19.6126	18.2321	0.89937	0.0:0.0:1.0:0.0	.	32;424;445	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	H	424;445;445	ENSP00000356293:R424H;ENSP00000263946:R445H;ENSP00000295597:R445H	ENSP00000263946:R445H	R	+	2	0	PKP1	199556056	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	8.915000	0.92740	2.375000	0.81037	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	1	0	0	20	204	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	9.999947e-01	20	196	0	43	2								-20.000000	1	1	121412	5	36	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.770000	1.000000	1.000000	0.979405	0.990000	1	9.800000e-01	1
TNNT2	7139	broad.mit.edu	37	1	201333469	201333469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201333469C>T	ENST00000509001.1	-	10	702	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)			20					ATTCCGGATGCGCTGCTGCTC	0.642000																								0							SO:0001583	missense			ENST00000509001.1	1	1	hg19	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318568	0.81469	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.986;0.992;0.992;0.996;0.993;0.992	D	0.97750	1.0214	10	0.87932	D	0	-11.211	15.2601	0.73615	0.0:1.0:0.0:0.0	.	134;151;148;149;139;149	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	H	139;139;151;141;144;139;139;134;135;80;109;139;134;149	ENSP00000356291:R139H;ENSP00000356287:R139H;ENSP00000387874:R151H;ENSP00000404134:R141H;ENSP00000236918:R144H;ENSP00000356286:R139H;ENSP00000356284:R139H;ENSP00000353535:R134H;ENSP00000356289:R109H;ENSP00000422031:R139H;ENSP00000414036:R134H;ENSP00000402238:R149H	ENSP00000236918:R144H	R	-	2	0	TNNT2	199600092	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	5.834000	0.69361	1.926000	0.55796	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	1	0	1	24	133	0	25	0	2.555031e-02	1	1	0	25	2		0	0	0	0	0	2	1	9.999998e-01	24	132	0	24	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
TNNT2	7139	broad.mit.edu	37	1	201337290	201337290	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201337290C>A	ENST00000509001.1	-	5	419	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	TNNT2_ENST00000367318.5_Splice_Site_p.E45*|TNNT2_ENST00000458432.2_Splice_Site_p.E57*|TNNT2_ENST00000421663.2_Splice_Site_p.E47*|TNNT2_ENST00000367320.2_Splice_Site_p.D55Y|TNNT2_ENST00000367322.1_Splice_Site_p.E45*|TNNT2_ENST00000367315.2_Splice_Site_p.E45*|TNNT2_ENST00000367317.4_Splice_Site_p.E45*|TNNT2_ENST00000360372.4_Splice_Site_p.E40*|TNNT2_ENST00000236918.7_Splice_Site_p.E50*	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)			20					AGAGACTTACCTTCTGCCCTG	0.597000																								0							SO:0001630	splice_region_variant			ENST00000509001.1	0	1	hg19	CCDS30969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.94|19.94	3.919408|3.919408	0.73098|0.73098	.|.	.|.	ENSG00000118194|ENSG00000118194	ENST00000357848;ENST00000367320;ENST00000412633|ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165	D;D|.	0.99727|.	-6.55;-6.55|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	.|0.305164	.|0.25219	.|N	.|0.032250	T|.	0.71169|.	0.3308|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	P|.	0.35656|.	0.514|.	B|.	0.41332|.	0.354|.	T|.	0.74780|.	-0.3549|.	6|.	.|.	.|.	.|.	-4.8104|-4.8104	16.1679|16.1679	0.81785|0.81785	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	55|.	P45379-3|.	.|.	Y|X	42;55;45|45;45;57;47;50;45;45;40;45;40;55;50	ENSP00000356289:D55Y;ENSP00000408731:D45Y|.	.|.	D|E	-|-	1|1	0|0	TNNT2|TNNT2	199603913|199603913	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.172000|0.172000	0.22775|0.22775	3.582000|3.582000	0.53921|0.53921	2.436000|2.436000	0.82500|0.82500	0.561000|0.561000	0.74099|0.74099	GAT|GAA		TCGA-IB-7651-01A-11D-2154-08	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	0	0	0	79	374	0	66	0	1.456064e-01	0	4	0	66	2		0	0	0	0	0	2	1	1	75	366	0	63	2								-3.184063	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNNI1	7135	broad.mit.edu	37	1	201382201	201382201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201382201G>A	ENST00000361379.4	-	6	330	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*|TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)			8					ATGTCGTATCGCTCCTCATCC	0.602000																								0							SO:0001587	stop_gained			ENST00000361379.4	0	1	hg19	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398269	0.83120	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000555340;ENST00000556362	.	.	.	5.11	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2465	10.757	0.46243	0.0:0.0:0.281:0.719	.	.	.	.	X	80;80;80;80;80;80;59;80	.	ENSP00000337022:R80X	R	-	1	2	TNNI1	199648824	1.000000	0.71417	0.979000	0.43373	0.285000	0.27093	2.223000	0.42936	1.010000	0.39314	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	0	0	0	352	1857	1	422	0	0	0	1	1	422	2		0	0	0	0	0	2	1	1	341	1815	1	417	18								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV1	89796	broad.mit.edu	37	1	201749585	201749585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201749585C>T	ENST00000367296.4	+	4	1683	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000367302.1_Silent_p.S434S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367300.3_Silent_p.S421S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1			70					GTGGACTCAGCGATGCCTCAG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000367296.4	1	1	hg19	CCDS1414.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	1	0	1	63	375	0	81	0	7.253872e-01	0	17	0	81	2		0	0	0	0	0	2	1	1	63	367	0	81	2								-3.143284	1	1	121412	1	28	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV1	89796	broad.mit.edu	37	1	201751924	201751924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201751924G>T	ENST00000367296.4	+	6	2704	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1			70					TGGCTCCCCAGAAAGTACTCC	0.567000																								0							SO:0001587	stop_gained			ENST00000367296.4	0	1	hg19	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.819315|10.819315	0.99472|0.99472	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|.	.|.	.|.	5.47|5.47	4.56|4.56	0.56223|0.56223	.|.	0.177079|.	0.48286|.	D|.	0.000192|.	.|T	.|0.53916	.|0.1826	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63915	.|-0.6529	.|3	0.12103|.	T|.	0.63|.	-28.5937|-28.5937	10.0968|10.0968	0.42480|0.42480	0.1543:0.0:0.8457:0.0|0.1543:0.0:0.8457:0.0	.|.	.|.	.|.	.|.	X|I	775;762;762;762;762;270;371|319	.|.	ENSP00000295624:E762X|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200018547|200018547	1.000000|1.000000	0.71417|0.71417	0.630000|0.630000	0.29268|0.29268	0.989000|0.989000	0.77384|0.77384	5.855000|5.855000	0.69510|0.69510	1.336000|1.336000	0.45506|0.45506	-0.218000|-0.218000	0.12543|0.12543	GAA|AGA		TCGA-IB-7651-01A-11D-2154-08	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	1	0	0	74	262	0	68	0	9.816220e-01	0	25	0	68	2		0	0	0	0	0	2	1	1	69	258	0	67	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV1	89796	broad.mit.edu	37	1	201752962	201752962	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201752962G>T	ENST00000367296.4	+	7	3206	c.2786G>T	c.(2785-2787)aGa>aTa	p.R929I	NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1			70					GGAAGCCCCAGAGCTGGGCAA	0.557000																								0							SO:0001583	missense			ENST00000367296.4	1	1	hg19	CCDS1414.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.510195|3.510195	0.64522|0.64522	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.08458	.|3.09;3.11;3.11;3.11;3.09;3.11	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.162145	.|0.50627	.|D	.|0.000111	T|T	0.24160|0.24160	0.0585|0.0585	L|L	0.47190|0.47190	1.495|1.495	0.52099|0.52099	D|D	0.999944|0.999944	.|P;P;P;D;P	.|0.71674	.|0.806;0.804;0.558;0.998;0.804	.|B;B;B;D;B	.|0.76575	.|0.312;0.324;0.12;0.988;0.324	T|T	0.00129|0.00129	-1.2016|-1.2016	5|10	.|0.87932	.|D	.|0	-26.312|-26.312	17.2444|17.2444	0.87023|0.87023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|929;538;929;437;929	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	H|I	486|942;929;929;929;929;437;538	.|ENSP00000356271:R942I;ENSP00000356265:R929I;ENSP00000295624:R929I;ENSP00000356266:R929I;ENSP00000356269:R929I;ENSP00000356264:R538I	.|ENSP00000295624:R929I	Q|R	+|+	3|2	2|0	NAV1|NAV1	200019585|200019585	1.000000|1.000000	0.71417|0.71417	0.917000|0.917000	0.36280|0.36280	0.905000|0.905000	0.53344|0.53344	5.349000|5.349000	0.66010|0.66010	2.596000|2.596000	0.87737|0.87737	0.460000|0.460000	0.39030|0.39030	CAG|AGA		TCGA-IB-7651-01A-11D-2154-08	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	1	0	1	83	305	0	77	0	9.691357e-01	0	23	0	77	2		0	0	0	0	0	2	1	1	82	298	0	76	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV1	89796	broad.mit.edu	37	1	201757711	201757711	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201757711C>T	ENST00000367296.4	+	10	3531	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000367295.1_Silent_p.A646A|NAV1_ENST00000367302.1_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000295624.6_Silent_p.A1037A|NAV1_ENST00000367300.3_Intron	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1			70					TGTCCCTGGCCGAGAGACCCA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000367296.4	1	1	hg19	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529830	0.27387	.	.	ENSG00000134369	ENST00000430015	.	.	.	5.4	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.6555	9.0935	0.36625	0.1482:0.774:0.0:0.0777	.	.	.	.	X	595	.	.	R	+	1	2	NAV1	200024334	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.310000	0.19356	2.526000	0.85167	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	0	0	1	125	590	0	122	0	9.021026e-01	0	21	0	122	2		0	0	0	0	0	2	1	1	124	576	0	119	2								-2.862736	1	1	121412	1	38	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAV1	89796	broad.mit.edu	37	1	201786359	201786359	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201786359C>T	ENST00000367296.4	+	29	5904	c.5484C>T	c.(5482-5484)ccC>ccT	p.P1828P	NAV1_ENST00000367297.4_Silent_p.P1820P|NAV1_ENST00000367295.1_Silent_p.P1434P|NAV1_ENST00000367302.1_Silent_p.P1781P|IPO9-AS1_ENST00000421449.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367300.3_Silent_p.P1768P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1			70					CCTCACCTCCCGAGGATAGGA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000367296.4	1	1	hg19	CCDS1414.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	1	0	1	52	181	0	50	0	9.993864e-01	1	41	0	50	2		0	0	0	0	0	2	1	1	51	174	0	50	2								-3.055868	1	1	121412	2	36	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMOD1	25802	broad.mit.edu	37	1	201869208	201869208	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201869208C>A	ENST00000367288.4	-	2	1179	c.933G>T	c.(931-933)gaG>gaT	p.E311D	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)			26					GAGCTGCCTCCTCCTCCACCT	0.537000																								0							SO:0001583	missense			ENST00000367288.4	1	1	hg19	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009822	0.19277	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91792	-2.91	5.08	3.95	0.45737	.	0.000000	0.40385	N	0.001120	D	0.85952	0.5817	L	0.45137	1.4	0.33461	D	0.584948	B;B	0.33448	0.355;0.412	B;B	0.27262	0.057;0.078	D	0.87607	0.2501	10	0.38643	T	0.18	-35.2165	9.3458	0.38107	0.0:0.8837:0.0:0.1163	.	260;311	B4E3S9;P29536	.;LMOD1_HUMAN	D	311;311;260	ENSP00000356257:E311D	ENSP00000356257:E311D	E	-	3	2	LMOD1	200135831	0.530000	0.26330	1.000000	0.80357	0.280000	0.26924	-0.223000	0.09177	2.355000	0.79922	0.505000	0.49811	GAG		TCGA-IB-7651-01A-11D-2154-08	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2	1	0	1	63	172	0	30	0	1	0	120	0	30	2		0	0	0	0	0	2	1	1	59	168	0	30	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNPEP	6051	broad.mit.edu	37	1	201972481	201972481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201972481G>A	ENST00000295640.4	+	9	1586	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)			21					GTGGGCAGCCGAGGAGCTGGA	0.587000													GBM(19;39 479 7473 13131 19462)											0							SO:0001583	missense			ENST00000295640.4	1	1	hg19	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	0.219	-1.030092	0.02045	2.27E-4	0.0	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.39787	1.06;1.06	5.33	-3.72	0.04411	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	1.082770	0.06964	N	0.816941	T	0.15998	0.0385	N	0.12182	0.205	0.09310	N	1	B;B	0.20052	0.041;0.016	B;B	0.20955	0.032;0.032	T	0.22941	-1.0202	10	0.06757	T	0.87	-6.6993	0.4726	0.00534	0.3803:0.2115:0.1831:0.2251	.	523;515	Q7RU04;Q9H4A4	.;AMPB_HUMAN	K	515;476	ENSP00000295640:E515K;ENSP00000356255:E476K	ENSP00000295640:E515K	E	+	1	0	RNPEP	200239104	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.531000	0.06171	-0.692000	0.05128	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	1	0	1	61	170	0	49	1	1	52	201	0	49	2		0	0	0	0	0	2	1	1	60	168	0	48	2								-20.000000	1	1	121412	4	38	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELF3	1999	broad.mit.edu	37	1	201982144	201982144	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201982144A>G	ENST00000359651.3	+	5	3860	c.668A>G	c.(667-669)gAt>gGt	p.D223G	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.D223G|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D223G					E74-like factor 3 (ets domain transcription factor, epithelial-specific )			20					GATCCCACTGATGGCAAGCTC	0.637000																								0							SO:0001583	missense			ENST00000359651.3	1	1	hg19	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425493	0.25639	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.53423	2.43;2.43;2.43;0.62	5.37	4.22	0.49857	.	50.140900	0.01575	U	0.020794	T	0.48259	0.1490	M	0.68317	2.08	0.21064	N	0.999799	P	0.36282	0.546	B	0.31614	0.133	T	0.37103	-0.9720	10	0.22109	T	0.4	.	9.9729	0.41765	0.9223:0.0:0.0777:0.0	.	223	P78545	ELF3_HUMAN	G	223;223;223;200;221	ENSP00000352673:D223G;ENSP00000356253:D223G;ENSP00000356252:D223G;ENSP00000405162:D221G	ENSP00000311348:D200G	D	+	2	0	ELF3	200248767	1.000000	0.71417	0.343000	0.25615	0.125000	0.20455	6.381000	0.73163	0.858000	0.35431	0.459000	0.35465	GAT		TCGA-IB-7651-01A-11D-2154-08	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	1	0	1	61	197	0	53	1	1	315	360	0	53	2		0	0	0	0	0	2	1	1	60	194	0	52	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTUD3	23252	broad.mit.edu	37	1	20216981	20216981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20216981G>T	ENST00000375120.3	+	2	326	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3			9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			GCAGCGGGAAGATTTTGAACC	0.438000																								0							SO:0001583	missense			ENST00000375120.3	1	1	hg19	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943063	0.53079	.	.	ENSG00000169914	ENST00000375120	T	0.43294	0.95	5.23	4.32	0.51571	Ovarian tumour, otubain (2);	0.045448	0.85682	D	0.000000	T	0.33818	0.0876	L	0.53671	1.685	0.58432	D	0.999999	B	0.22604	0.072	B	0.26517	0.07	T	0.12811	-1.0533	10	0.02654	T	1	.	11.2403	0.48966	0.0867:0.0:0.9133:0.0	.	109	Q5T2D3	OTUD3_HUMAN	Y	109	ENSP00000364261:D109Y	ENSP00000364261:D109Y	D	+	1	0	OTUD3	20089568	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.894000	0.92506	1.348000	0.45733	0.536000	0.68110	GAT		TCGA-IB-7651-01A-11D-2154-08	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1	1	0	1	152	523	0	136	1	4.927540e-01	4	3	0	136	2		0	0	0	0	0	2	1	1	150	515	0	135	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.993398	0.990000	1	9.800000e-01	1
LGR6	59352	broad.mit.edu	37	1	202279366	202279366	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202279366G>T	ENST00000367278.3	+	16	1537	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	LGR6_ENST00000255432.7_Missense_Mutation_p.G431V|LGR6_ENST00000439764.2_Missense_Mutation_p.G344V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6			36					TGTCCCTATGGGATGTGTGCC	0.572000																								0							SO:0001583	missense			ENST00000367278.3	0	1	hg19	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862951	0.32884	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.60548	0.18;0.6;1.87	5.71	5.71	0.89125	.	0.167430	0.52532	D	0.000063	T	0.66733	0.2819	L	0.46614	1.455	0.58432	D	0.99999	D;B;P	0.58268	0.982;0.046;0.857	P;B;P	0.61800	0.894;0.037;0.517	T	0.62234	-0.6897	10	0.32370	T	0.25	.	15.3359	0.74255	0.0:0.1392:0.8608:0.0	.	344;431;483	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	V	483;431;344	ENSP00000356247:G483V;ENSP00000255432:G431V;ENSP00000387869:G344V	ENSP00000255432:G431V	G	+	2	0	LGR6	200545989	1.000000	0.71417	0.320000	0.25306	0.802000	0.45316	6.026000	0.70873	2.679000	0.91253	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	0	0	0	10	681	0	155	1	4.938726e-02	2	20	0	155	2		0	0	0	0	0	2	1	9.966457e-01	10	671	0	152	2								-2.331525	0	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.210000	0.090000	1.000000	0.200000	0.382958	0.210000	0	1.400000e-01	1
PLA2G2E	30814	broad.mit.edu	37	1	20248849	20248849	+	Silent	SNP	G	G	T	rs143904654	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20248849G>T	ENST00000375116.3	-	3	285	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE			10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		Aminosalicylic Acid(DB00233)	TGGGCTCACAGCCCAGCTTCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000375116.3	1	1	hg19	CCDS200.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1	1	0	1	16	165	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	9.999414e-01	16	163	0	47	2								-19.995680	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.820000	0.530000	0.990000	0.910000	0.815026	0.820000	0	6.700000e-01	9.500000e-01
KDM5B	10765	broad.mit.edu	37	1	202698939	202698939	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202698939T>C	ENST00000367265.3	-	26	5557	c.4393A>G	c.(4393-4395)Act>Gct	p.T1465A	KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B			6					AGGGAATGAGTTTCAGCAGAA	0.483000																								0							SO:0001583	missense			ENST00000367265.3	1	1	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408742	0.25378	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.84146	-1.81;-1.62	5.44	4.29	0.51040	Zinc finger, FYVE/PHD-type (1);	0.242623	0.42964	D	0.000635	T	0.77418	0.4127	L	0.36672	1.1	0.29722	N	0.838543	B;B	0.19073	0.033;0.009	B;B	0.17979	0.02;0.005	T	0.66874	-0.5813	10	0.25106	T	0.35	-4.6225	11.5021	0.50444	0.0:0.0709:0.0:0.9291	.	1501;1465	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	A	1465;1307;1501	ENSP00000356234:T1465A;ENSP00000356233:T1501A	ENSP00000356233:T1501A	T	-	1	0	KDM5B	200965562	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.409000	0.52657	0.875000	0.35847	0.528000	0.53228	ACT		TCGA-IB-7651-01A-11D-2154-08	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	1	225	669	0	136	1	1	60	79	0	136	2		0	0	0	0	0	2	1	1	222	659	0	136	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM5B	10765	broad.mit.edu	37	1	202700144	202700144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202700144G>A	ENST00000367265.3	-	25	5233	c.4069C>T	c.(4069-4071)Cag>Tag	p.Q1357*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B			6					AGGGATACCTGGAGCAGCTGG	0.458000																								0							SO:0001587	stop_gained			ENST00000367265.3	0	1	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	48	14.013494	0.99775	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	6.14	6.14	0.99180	.	0.100675	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.1782	20.4548	0.99139	0.0:0.0:1.0:0.0	.	.	.	.	X	1357;1199;1393;1199	.	ENSP00000235790:Q1199X	Q	-	1	0	KDM5B	200966767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.937000	0.99478	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	1	46	222	0	49	1	1	12	152	0	49	2		0	0	0	0	0	2	1	1	46	217	0	49	2								-3.380273	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM5B	10765	broad.mit.edu	37	1	202705505	202705505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202705505G>A	ENST00000367265.3	-	21	4264	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B			6					TCTAACACTGGCACACGTCCT	0.413000																								0							SO:0001583	missense			ENST00000367265.3	1	1	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763091	0.89932	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.55052	0.54;0.54;0.54	5.66	5.66	0.87406	Lysine-specific demethylase-like domain (1);	0.099013	0.64402	D	0.000001	T	0.75436	0.3849	M	0.81497	2.545	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.70487	0.969;0.964	T	0.77225	-0.2666	10	0.72032	D	0.01	-6.9268	20.1253	0.97977	0.0:0.0:1.0:0.0	.	1070;1034	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	S	1034;876;1070;876	ENSP00000356234:P1034S;ENSP00000356233:P1070S;ENSP00000235790:P876S	ENSP00000235790:P876S	P	-	1	0	KDM5B	200972128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	2.832000	0.97577	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	0	22	298	0	53	0	9.716600e-01	0	81	0	53	2		0	0	0	0	0	2	1	9.999987e-01	19	295	0	52	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.970000	0.600000	1.000000	1.000000	0.906542	0.970000	1	7.600000e-01	1
KDM5B	10765	broad.mit.edu	37	1	202731903	202731903	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202731903G>T	ENST00000367265.3	-	7	2006	c.842C>A	c.(841-843)cCt>cAt	p.P281H	KDM5B_ENST00000367264.2_Missense_Mutation_p.P317H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B			6					CCTCTCAATAGGTTCTTGCTT	0.408000																								0							SO:0001583	missense			ENST00000367265.3	0	1	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880655	0.51801	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86230	-1.99;-1.81;-2.09	5.46	4.55	0.56014	.	0.286976	0.42053	D	0.000769	D	0.83252	0.5214	L	0.39898	1.24	0.09310	N	1	D;P	0.61697	0.99;0.928	P;P	0.52031	0.688;0.664	T	0.72988	-0.4124	10	0.20519	T	0.43	-2.7053	6.0717	0.19893	0.2019:0.0:0.7981:0.0	.	317;281	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	281;123;317;123	ENSP00000356234:P281H;ENSP00000356233:P317H;ENSP00000235790:P123H	ENSP00000235790:P123H	P	-	2	0	KDM5B	200998526	0.090000	0.21635	0.760000	0.31359	0.748000	0.42578	1.460000	0.35244	2.554000	0.86153	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	0	0	0	27	1048	0	144	0	6.970855e-01	1	94	0	144	2		0	0	0	0	0	2	1	9.999999e-01	27	1025	0	143	2								-2.383460	0	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.350000	0.220000	1.000000	0.330000	0.485585	0.350000	0	2.700000e-01	1
KDM5B	10765	broad.mit.edu	37	1	202742404	202742404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202742404C>T	ENST00000367265.3	-	4	1582	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B			6					AATCCACCTTCTTCTGCAACT	0.403000																								0							SO:0001583	missense			ENST00000367265.3	1	1	hg19	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488816	0.84962	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.62941	-0.01;-0.01	5.79	5.79	0.91817	ARID/BRIGHT DNA-binding domain (5);	0.092379	0.85682	D	0.000000	T	0.59445	0.2194	L	0.38531	1.155	0.58432	D	0.999997	P;B	0.45569	0.861;0.104	P;B	0.45712	0.491;0.262	T	0.57347	-0.7827	10	0.36615	T	0.2	-25.1694	16.9763	0.86314	0.0:0.8728:0.1272:0.0	.	140;140	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	140	ENSP00000356234:E140K;ENSP00000356233:E140K	ENSP00000356233:E140K	E	-	1	0	KDM5B	201009027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.118000	0.71583	2.740000	0.93945	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	0	32	383	0	60	1	9.804937e-01	5	72	0	60	2		0	0	0	0	0	2	1	1	31	375	0	60	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.720000	1.000000	1.000000	0.956450	0.990000	1	8.700000e-01	1
KLHL12	59349	broad.mit.edu	37	1	202878242	202878242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202878242C>T	ENST00000367261.3	-	6	946	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLHL12_ENST00000367259.1_5'UTR|KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12			14			BRCA - Breast invasive adenocarcinoma(75;0.166)		TAAACTACAGCGGATGAAAGG	0.453000																								0							SO:0001583	missense			ENST00000367261.3	1	1	hg19	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009934	0.93346	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.69306	-0.38;-0.39;-0.3	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.82433	2.59	0.80722	D	1	D;D;B	0.71674	0.981;0.998;0.013	B;P;B	0.54346	0.377;0.749;0.002	T	0.83233	-0.0062	10	0.66056	D	0.02	.	19.3442	0.94357	0.0:1.0:0.0:0.0	.	281;281;243	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	H	243;281;281	ENSP00000356230:R243H;ENSP00000416886:R281H;ENSP00000356227:R281H	ENSP00000356227:R281H	R	-	2	0	KLHL12	201144865	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.358000	0.79466	2.641000	0.89580	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	1	0	0	17	477	0	103	1	9.589580e-01	9	142	0	103	2		0	0	0	0	0	2	1	9.999576e-01	17	464	0	102	2								-3.150991	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.490000	0.280000	1.000000	0.450000	0.588459	0.490000	0	3.700000e-01	1
ADIPOR1	51094	broad.mit.edu	37	1	202912992	202912992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202912992C>A	ENST00000340990.5	-	6	997	c.699G>T	c.(697-699)caG>caT	p.Q233H	ADIPOR1_ENST00000367254.3_Splice_Site|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1			16			BRCA - Breast invasive adenocarcinoma(75;0.141)		TGAGCCGTGGCTGTGGGGAGC	0.507000																								0							SO:0001583	missense			ENST00000340990.5	0	1	hg19	CCDS1430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.152560|4.152560	0.78001|0.78001	.|.	.|.	ENSG00000159346|ENSG00000159346	ENST00000367254|ENST00000340990;ENST00000436244;ENST00000417068	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.99|5.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.25791	.|0.0628	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	.|B	.|0.25206	.|0.12	.|B	.|0.27715	.|0.082	.|T	.|0.04216	.|-1.0968	.|10	.|0.15066	.|T	.|0.55	.|.	13.5456|13.5456	0.61702|0.61702	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|233	.|Q96A54	.|ADR1_HUMAN	.|H	-1|233	.|ENSP00000341785:Q233H;ENSP00000395469:Q233H;ENSP00000402178:Q233H	.|ENSP00000341785:Q233H	.|Q	-|-	.|3	.|2	ADIPOR1|ADIPOR1	201179615|201179615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.050000|4.050000	0.57404|0.57404	1.377000|1.377000	0.46286|0.46286	0.655000|0.655000	0.94253|0.94253	.|CAG		TCGA-IB-7651-01A-11D-2154-08	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	1	0	1	41	168	0	40	1	1	225	644	0	40	2		0	0	0	0	0	2	1	1	40	167	0	40	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADIPOR1	51094	broad.mit.edu	37	1	202915651	202915651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202915651G>A	ENST00000340990.5	-	4	644	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1			16			BRCA - Breast invasive adenocarcinoma(75;0.141)		GGCATGGGAGGTCTATGACCA	0.502000																								0							SO:0001583	missense			ENST00000340990.5	1	1	hg19	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928091	0.92389	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96934	0.9683	10	0.38643	T	0.18	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	116	Q96A54	ADR1_HUMAN	S	116	ENSP00000341785:P116S;ENSP00000395469:P116S;ENSP00000402178:P116S;ENSP00000356223:P116S;ENSP00000392946:P116S	ENSP00000341785:P116S	P	-	1	0	ADIPOR1	201182274	1.000000	0.71417	0.127000	0.21898	0.796000	0.44982	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	1	0	1	124	357	0	109	1	1	355	566	0	109	2		0	0	0	0	0	2	1	1	123	348	0	108	2								-20.000000	1	1	121412	1	30	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYB5R1	51706	broad.mit.edu	37	1	202932821	202932821	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202932821G>A	ENST00000367249.4	-	7	668	c.594C>T	c.(592-594)atC>atT	p.I198I	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1			12			BRCA - Breast invasive adenocarcinoma(75;0.141)	Flavin adenine dinucleotide(DB03147)	GGACTTTCAGGATGGCCCGGA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000367249.4	0	1	hg19	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255216	0.22965	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	T	0.64349	0.2590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63143	-0.6703	4	.	.	.	-5.9597	12.7787	0.57464	0.0791:0.0:0.9209:0.0	.	.	.	.	F	130	.	.	S	-	2	0	CYB5R1	201199444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.985000	0.49362	1.499000	0.48617	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	0	0	1	4	79	0	21	1	9.989391e-01	41	324	0	21	2		0	0	0	0	0	2	1	8.892311e-01	4	78	0	21	2								-7.780638	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.810000	0.250000	1.000000	1.000000	0.762630	0.810000	0	4.600000e-01	1
CYB5R1	51706	broad.mit.edu	37	1	202934626	202934626	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202934626G>T	ENST00000367249.4	-	5	422	c.348C>A	c.(346-348)gtC>gtA	p.V116V	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1			12			BRCA - Breast invasive adenocarcinoma(75;0.141)	Flavin adenine dinucleotide(DB03147)	CCTTCAGGTAGACCTTACAAG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000367249.4	1	1	hg19	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823595	0.32237	.	.	ENSG00000159348	ENST00000446185	.	.	.	5.93	-0.626	0.11544	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	-5.3569	9.1318	0.36850	0.1388:0.4715:0.3897:0.0	.	.	.	.	Y	48	.	.	S	-	2	0	CYB5R1	201201249	0.985000	0.35326	0.968000	0.41197	0.867000	0.49689	0.224000	0.17738	-0.365000	0.08076	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	1	0	0	51	609	0	119	1	9.999922e-01	24	179	0	119	2		0	0	0	0	0	2	1	1	49	584	0	119	2								-12.351180	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.770000	1.000000	1.000000	0.965371	0.990000	1	9.000000e-01	1
PPFIA4	8497	broad.mit.edu	37	1	203033018	203033018	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203033018G>A	ENST00000447715.2	+	30	3312	c.2871G>A	c.(2869-2871)ggG>ggA	p.G957G	PPFIA4_ENST00000367240.2_Silent_p.G958G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000414050.2_Silent_p.G686G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4			50					CCAGCCTGGGGCTCCCGCAGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000447715.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	1	0	1	64	353	0	66	0	1.171053e-01	0	4	0	66	2		0	0	0	0	0	2	1	1	64	350	0	66	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYOG	4656	broad.mit.edu	37	1	203054860	203054860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203054860G>A	ENST00000241651.4	-	1	304	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)			12					CACGGACACCGACTTCCTCTT	0.672000																								0							SO:0001583	missense			ENST00000241651.4	1	1	hg19	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724384	0.68959	.	.	ENSG00000122180	ENST00000241651	T	0.80033	-1.33	5.69	5.69	0.88448	Myogenic basic muscle-specific protein (2);Helix-loop-helix DNA-binding (1);	0.102169	0.64402	D	0.000003	T	0.78997	0.4372	L	0.57536	1.79	0.46298	D	0.998971	P	0.44429	0.835	B	0.40066	0.318	T	0.82283	-0.0534	10	0.87932	D	0	-18.011	16.1007	0.81169	0.0:0.1337:0.8663:0.0	.	77	P15173	MYOG_HUMAN	L	77	ENSP00000241651:S77L	ENSP00000241651:S77L	S	-	2	0	MYOG	201321483	1.000000	0.71417	0.987000	0.45799	0.836000	0.47400	7.896000	0.87350	2.683000	0.91414	0.563000	0.77884	TCG		TCGA-IB-7651-01A-11D-2154-08	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	1	0	1	224	615	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	220	600	0	101	2								-8.971446	1	1	121412	1	32	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHIT1	1118	broad.mit.edu	37	1	203186203	203186203	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203186203G>T	ENST00000367229.1	-	11	1249	c.1215C>A	c.(1213-1215)ccC>ccA	p.P405P	CHIT1_ENST00000535569.1_Silent_p.P396P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.P386P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)			27					CAGGTTCAGAGGGCTGACCTG	0.562000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000367229.1	1	1	hg19	CCDS1436.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	0	0	0	12	411	0	83	0	8.796121e-01	0	131	0	83	2		0	0	0	0	0	2	1	9.990087e-01	12	402	0	82	2								-2.946683	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.420000	0.210000	1.000000	0.360000	0.530678	0.420000	0	2.900000e-01	1
CHIT1	1118	broad.mit.edu	37	1	203192262	203192262	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192262C>A	ENST00000367229.1	-	6	640		c.e6+1		CHIT1_ENST00000535569.1_Splice_Site|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Splice_Site	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)			27					CTGAGACTCACTGGGCGATTT	0.562000																								0							SO:0001630	splice_region_variant			ENST00000367229.1	1	1	hg19	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156689	0.38119	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.62	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9969	0.47582	0.0:0.9062:0.0:0.0938	.	.	.	.	.	-1	.	.	.	-	.	.	CHIT1	201458885	1.000000	0.71417	0.739000	0.30968	0.434000	0.31775	5.178000	0.65037	1.032000	0.39892	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	0	0	1	163	743	0	142	0	0	0	1	0	142	2		0	0	0	0	0	2	1	1	161	730	0	138	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHIT1	1118	broad.mit.edu	37	1	203192354	203192354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192354T>G	ENST00000367229.1	-	6	548	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)			27					TTCCCTGAGGTCTGGGCTTCC	0.612000																								0							SO:0001583	missense			ENST00000367229.1	1	1	hg19	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	T	3.860	-0.030107	0.07543	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.35048	1.33;1.33;1.33	4.62	-9.25	0.00666	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	2.613330	0.01479	N	0.016587	T	0.19127	0.0459	N	0.21508	0.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.08066	-1.0740	10	0.29301	T	0.29	-6.2198	4.2602	0.10737	0.3045:0.4553:0.1027:0.1376	.	163;172	G5EA51;Q13231	.;CHIT1_HUMAN	P	172;153;163	ENSP00000356198:T172P;ENSP00000255427:T153P;ENSP00000438078:T163P	ENSP00000255427:T153P	T	-	1	0	CHIT1	201458977	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.396000	0.07278	-2.245000	0.00705	-0.333000	0.08304	ACC		TCGA-IB-7651-01A-11D-2154-08	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	1	0	1	161	526	0	134	0	1	0	85	0	134	2		0	0	0	0	0	2	1	1	161	521	0	133	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHIT1	1118	broad.mit.edu	37	1	203192720	203192720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192720C>T	ENST00000367229.1	-	5	417	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)			27					GCTGTATTTGCGCAGAAACCT	0.567000																								0							SO:0001583	missense			ENST00000367229.1	1	1	hg19	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847641	0.51164	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.07114	3.22;3.22;3.22	5.0	4.09	0.47781	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.132232	0.34906	N	0.003582	T	0.27765	0.0683	M	0.76938	2.355	0.49389	D	0.99978	D;D	0.89917	0.998;1.0	P;D	0.91635	0.87;0.999	T	0.01468	-1.1347	10	0.66056	D	0.02	-5.7151	11.2471	0.49004	0.0:0.9098:0.0:0.0902	.	119;128	G5EA51;Q13231	.;CHIT1_HUMAN	H	128;109;119	ENSP00000356198:R128H;ENSP00000255427:R109H;ENSP00000438078:R119H	ENSP00000255427:R109H	R	-	2	0	CHIT1	201459343	0.998000	0.40836	0.503000	0.27626	0.339000	0.28857	4.054000	0.57434	1.084000	0.41184	0.643000	0.83706	CGC		TCGA-IB-7651-01A-11D-2154-08	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	1	0	1	149	585	0	125	0	1	0	102	0	125	2		0	0	0	0	0	2	1	1	144	574	0	125	2								-20.000000	1	1	121412	11	44	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTG2	7832	broad.mit.edu	37	1	203274801	203274801	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203274801C>A	ENST00000290551.4	+	1	138	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2			9			BRCA - Breast invasive adenocarcinoma(75;0.203)		CCTCTCCAGCCTCCTGAGGAC	0.697000																								0							SO:0001583	missense			ENST00000290551.4	0	1	hg19	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654850	0.67472	.	.	ENSG00000159388	ENST00000290551	T	0.26373	1.74	4.66	3.73	0.42828	Anti-proliferative protein (3);	0.000000	0.64402	D	0.000017	T	0.27933	0.0688	M	0.63169	1.94	0.43766	D	0.996284	B	0.22414	0.069	B	0.33750	0.169	T	0.07539	-1.0767	10	0.33940	T	0.23	-39.2938	8.6148	0.33824	0.0:0.8197:0.0:0.1803	.	23	P78543	BTG2_HUMAN	I	23	ENSP00000290551:L23I	ENSP00000290551:L23I	L	+	1	0	BTG2	201541424	0.980000	0.34600	1.000000	0.80357	0.753000	0.42808	1.433000	0.34947	2.425000	0.82216	0.478000	0.44815	CTC		TCGA-IB-7651-01A-11D-2154-08	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	1	0	0	8	25	0	10	1	9.999999e-01	12	189	0	10	2		0	0	0	0	0	2	1	9.924917e-01	8	25	0	9	2								-19.985030	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999798	0.990000	1	9.900000e-01	1
PRELP	5549	broad.mit.edu	37	1	203452334	203452334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203452334C>A	ENST00000343110.2	+	2	149	c.22C>A	c.(22-24)Ctc>Atc	p.L8I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein			36			BRCA - Breast invasive adenocarcinoma(75;0.109)		CCTCTGCTGGCTCCTCCCACT	0.592000																								0							SO:0001583	missense			ENST00000343110.2	1	1	hg19	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215986	0.39201	.	.	ENSG00000188783	ENST00000343110	T	0.42900	0.96	5.09	-0.72	0.11195	.	0.975835	0.08385	N	0.953853	T	0.18087	0.0434	N	0.08118	0	0.35990	D	0.836638	B	0.06786	0.001	B	0.04013	0.001	T	0.37753	-0.9692	10	0.13470	T	0.59	-1.156	4.4875	0.11797	0.234:0.4619:0.2291:0.075	.	8	P51888	PRELP_HUMAN	I	8	ENSP00000343924:L8I	ENSP00000343924:L8I	L	+	1	0	PRELP	201718957	0.069000	0.21087	1.000000	0.80357	0.988000	0.76386	-1.025000	0.03600	0.151000	0.19162	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	0	0	1	135	677	1	160	0	1	0	808	1	160	18		0	0	0	0	0	2	1	1	133	666	1	160	18								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2B4	493	broad.mit.edu	37	1	203678519	203678519	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203678519T>C	ENST00000357681.5	+	11	2771	c.1648T>C	c.(1648-1650)Tat>Cat	p.Y550H	ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4			56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)		GAAGCAGGATTATCAGGCTGT	0.542000																								0							SO:0001583	missense			ENST00000357681.5	1	1	hg19	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330841	0.60853	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.52	5.52	0.82312	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.48286	D	0.000184	D	0.97692	0.9243	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;P;D	0.91635	0.999;0.848;0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-12.6719	15.3051	0.73987	0.0:0.0:0.0:1.0	.	550;550;550	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	550;550;538;550;550	ENSP00000350310:Y550H;ENSP00000356187:Y550H;ENSP00000356188:Y538H;ENSP00000375816:Y550H;ENSP00000340930:Y550H	ENSP00000340930:Y550H	Y	+	1	0	ATP2B4	201945142	1.000000	0.71417	0.940000	0.37924	0.104000	0.19210	8.008000	0.88588	2.094000	0.63399	0.460000	0.39030	TAT		TCGA-IB-7651-01A-11D-2154-08	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	0	0	0	11	440	0	78	0	7.807984e-01	1	115	0	78	2		0	0	0	0	0	2	1	9.983126e-01	11	437	0	77	2								-10.459780	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.360000	0.170000	1.000000	0.320000	0.489533	0.360000	0	2.500000e-01	1
LAX1	54900	broad.mit.edu	37	1	203743398	203743398	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203743398T>G	ENST00000442561.2	+	5	1176	c.786T>G	c.(784-786)tcT>tcG	p.S262S	LAX1_ENST00000367217.5_Silent_p.S246S|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1			24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)		AAGGTTCTTCTCAGATCTCAA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000442561.2	1	1	hg19	CCDS1441.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	1	0	0	17	192	0	43	0	7.890234e-01	0	35	0	43	2		0	0	0	0	0	2	1	9.999692e-01	17	190	0	43	2								-19.999350	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.670000	1.000000	1.000000	0.957494	0.990000	1	8.800000e-01	1
ZC3H11A	9877	broad.mit.edu	37	1	203817479	203817479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203817479C>A	ENST00000545588.1	+	13	5394	c.1567C>A	c.(1567-1569)Ctt>Att	p.L523I	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L523I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A			32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)		AGAGAAGAACCTTCAGGAAGG	0.303000																								0							SO:0001583	missense			ENST00000545588.1	0	1	hg19	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083034	0.36758	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.65	2.73	0.32206	.	0.188080	0.32918	N	0.005483	T	0.41143	0.1146	M	0.65975	2.015	0.28449	N	0.916402	P	0.36959	0.575	B	0.35607	0.206	T	0.31392	-0.9945	10	0.37606	T	0.19	-16.4057	6.7541	0.23503	0.0:0.6956:0.1442:0.1602	.	523	O75152	ZC11A_HUMAN	I	523;469;523;523;523;523	ENSP00000356183:L523I;ENSP00000356181:L523I;ENSP00000333253:L523I;ENSP00000438527:L523I;ENSP00000356179:L523I	ENSP00000333253:L523I	L	+	1	0	ZC3H11A	202084102	0.293000	0.24371	0.946000	0.38457	0.973000	0.67179	0.819000	0.27308	0.398000	0.25338	-0.143000	0.13931	CTT		TCGA-IB-7651-01A-11D-2154-08	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	0	0	0	8	428	0	77	1	9.440780e-01	4	268	0	77	2		0	0	0	0	0	2	1	9.886845e-01	7	421	0	77	2								-2.545736	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.280000	0.120000	1.000000	0.230000	0.429632	0.280000	0	1.800000e-01	1
SNRPE	6635	broad.mit.edu	37	1	203839004	203839004	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203839004G>A	ENST00000414487.2	+	5	268		c.e5-1		SNRPE_ENST00000483099.1_Splice_Site|SNRPE_ENST00000367208.1_Splice_Site	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E			5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)		TTGTGTTGCAGGTCGGATCAT	0.333000													Ovarian(83;324 1318 17952 32395 39614)											0							SO:0001630	splice_region_variant			ENST00000414487.2	1	1	hg19	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440462	0.63067	.	.	ENSG00000182004	ENST00000414487;ENST00000367208	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNRPE	202105627	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.895000	0.87343	2.861000	0.98227	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	1	0	1	23	131	0	26	0	2.449780e-02	1	1	0	26	2		0	0	0	0	0	2	1	9.999997e-01	23	131	0	26	2								-13.468220	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
SOX13	9580	broad.mit.edu	37	1	204091060	204091060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204091060C>T	ENST00000367204.1	+	8	917	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13			13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		GCACAGCCCCCCTGCCCCAGT	0.622000																								0							SO:0001583	missense			ENST00000367204.1	1	1	hg19	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164944	0.09287	.	.	ENSG00000143842	ENST00000367204	D	0.97620	-4.46	4.95	4.03	0.46877	.	0.103506	0.64402	D	0.000003	D	0.95252	0.8460	L	0.56769	1.78	0.32679	N	0.515761	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.08055	0.002;0.003;0.003	D	0.94865	0.8025	10	0.59425	D	0.04	.	13.4842	0.61355	0.0:0.8434:0.1566:0.0	.	137;137;270	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	S	270	ENSP00000356172:P270S	ENSP00000356172:P270S	P	+	1	0	SOX13	202357683	0.380000	0.25131	0.838000	0.33150	0.942000	0.58702	2.406000	0.44557	1.039000	0.40074	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	1	0	1	18	128	0	26	1	9.980797e-01	17	59	0	26	2		0	0	0	0	0	2	1	9.999878e-01	18	128	0	26	2								-3.079833	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.998509	0.990000	1	9.900000e-01	1
ETNK2	55224	broad.mit.edu	37	1	204109165	204109165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204109165G>A	ENST00000367202.4	-	5	1016	c.866C>T	c.(865-867)gCa>gTa	p.A289V	ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367199.2_Missense_Mutation_p.A220V|RP11-74C13.3_ENST00000433869.1_RNA|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2			7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		CCTCTCACCTGCAAACTCATT	0.428000																								0							SO:0001583	missense			ENST00000367202.4	1	1	hg19	CCDS1442.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.679705|5.679705	0.96774|0.96774	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817|ENST00000422072	T;T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23;0.23;0.23;0.23|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76891|.	0.4051|.	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.994;1.0;1.0|.	P;D;D|.	0.85130|.	0.88;0.996;0.997|.	T|.	0.77362|.	-0.2616|.	10|.	0.46703|.	T|.	0.11|.	-22.5584|-22.5584	16.9596|16.9596	0.86269|0.86269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	248;289;289|.	Q9NVF9-3;Q9NVF9;Q9NVF9-2|.	.;EKI2_HUMAN;.|.	V|X	289;289;220;155;111;155;146;135|52	ENSP00000356169:A289V;ENSP00000356170:A289V;ENSP00000356167:A220V;ENSP00000356166:A111V;ENSP00000405497:A155V;ENSP00000398091:A146V;ENSP00000406241:A135V|.	ENSP00000356166:A111V|.	A|Q	-|-	2|1	0|0	ETNK2|ETNK2	202375788|202375788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.928000|8.928000	0.92853|0.92853	2.525000|2.525000	0.85131|0.85131	0.650000|0.650000	0.86243|0.86243	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	1	0	1	101	306	0	83	1	9.999072e-01	10	34	0	83	2		0	0	0	0	0	2	1	1	100	302	0	83	2								-5.237648	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REN	5972	broad.mit.edu	37	1	204128549	204128549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128549C>T	ENST00000272190.8	-	5	695	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	REN_ENST00000367195.2_Missense_Mutation_p.V223I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin			19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)	Aliskiren(DB01258)|Remikiren(DB00212)	AAAGAGAAGACGTCCTCTTTT	0.562000																								0							SO:0001583	missense			ENST00000272190.8	1	1	hg19	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291027	0.23564	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.59906	0.23;0.23	5.35	4.44	0.53790	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.124071	0.56097	D	0.000033	T	0.52901	0.1763	L	0.31752	0.955	0.58432	D	0.999998	B	0.31949	0.348	P	0.45406	0.479	T	0.48375	-0.9041	10	0.25751	T	0.34	.	10.1333	0.42691	0.0:0.8451:0.0:0.1549	.	223	P00797	RENI_HUMAN	I	223;142;223	ENSP00000356163:V223I;ENSP00000272190:V223I	ENSP00000272190:V223I	V	-	1	0	REN	202395172	0.993000	0.37304	0.821000	0.32701	0.001000	0.01503	3.078000	0.50096	1.261000	0.44149	-0.300000	0.09419	GTC		TCGA-IB-7651-01A-11D-2154-08	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	0	0	1	85	312	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	83	301	0	82	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REN	5972	broad.mit.edu	37	1	204130425	204130425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204130425G>A	ENST00000272190.8	-	3	396	c.368C>T	c.(367-369)gCc>gTc	p.A123V	REN_ENST00000367195.2_Missense_Mutation_p.A123V	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin			19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)	Aliskiren(DB01258)|Remikiren(DB00212)	CTCACCACAGGCAGTGTAGAG	0.582000																								0							SO:0001583	missense			ENST00000272190.8	0	1	hg19	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500692	0.85176	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.61040	0.14;0.14	5.37	5.37	0.77165	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	L	0.61387	1.9	0.80722	D	1	D	0.58970	0.984	P	0.53313	0.723	T	0.72633	-0.4234	10	0.87932	D	0	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	123	P00797	RENI_HUMAN	V	123;42;123	ENSP00000356163:A123V;ENSP00000272190:A123V	ENSP00000272190:A123V	A	-	2	0	REN	202397048	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.353000	0.97080	2.501000	0.84356	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	0	0	0	5	119	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.347772e-01	4	117	0	17	2								-8.068659	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.660000	0.230000	1.000000	1.000000	0.686100	0.660000	0	3.900000e-01	1
KISS1	3814	broad.mit.edu	37	1	204159862	204159862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204159862C>T	ENST00000367194.4	-	3	315	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor			3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)		AGCTGGCTTCCTCTCGGTGCA	0.726000																								0							SO:0001583	missense			ENST00000367194.4	1	1	hg19	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316310	0.10789	.	.	ENSG00000170498	ENST00000367194	T	0.79653	-1.29	4.13	-2.12	0.07165	.	1.205720	0.06169	N	0.677340	T	0.64505	0.2604	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.46762	-0.9168	10	0.06891	T	0.86	-0.7887	4.1234	0.10116	0.0:0.2389:0.3513:0.4098	.	56	Q15726	KISS1_HUMAN	K	56	ENSP00000356162:R56K	ENSP00000356162:R56K	R	-	2	0	KISS1	202426485	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.052000	0.11865	-0.284000	0.09102	-0.165000	0.13383	AGG		TCGA-IB-7651-01A-11D-2154-08	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	1	0	0	22	79	0	18	0	3.120284e-01	1	4	0	18	2		0	0	0	0	0	2	1	9.999996e-01	23	79	0	18	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLT1A	127845	broad.mit.edu	37	1	204170873	204170873	+	Missense_Mutation	SNP	G	G	A	rs149024146	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204170873G>A	ENST00000308302.3	-	3	369	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A			4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		AGTTTGTGCCGTTGGAAGAAG	0.572000																								0							SO:0001583	missense			ENST00000308302.3	1	0	hg19	CCDS1443.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608368	0.46527	.	.	ENSG00000174567	ENST00000308302	T	0.47177	0.85	5.47	2.3	0.28687	.	0.000000	0.56097	D	0.000036	T	0.50394	0.1613	M	0.76938	2.355	0.45995	D	0.998804	B	0.29481	0.245	B	0.30782	0.12	T	0.52548	-0.8561	10	0.54805	T	0.06	-23.2114	14.2653	0.66113	0.0:0.0:0.3024:0.6976	.	62	Q6ZVE7	GOT1A_HUMAN	W	62	ENSP00000308535:R62W	ENSP00000308535:R62W	R	-	1	2	GOLT1A	202437496	0.520000	0.26250	0.999000	0.59377	0.938000	0.57974	0.848000	0.27710	0.153000	0.19213	0.643000	0.83706	CGG		TCGA-IB-7651-01A-11D-2154-08	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	1	0	1	112	575	0	128	1	9.999223e-01	39	32	0	128	2		0	0	0	0	0	2	1	1	111	565	0	128	2								-4.294018	1	1	121412	377	60	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R15B	84919	broad.mit.edu	37	1	204378920	204378920	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204378920T>G	ENST00000367188.4	-	1	1999	c.1620A>C	c.(1618-1620)gaA>gaC	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	p.E540D(1)		34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		CCCAGTCATCTTCCTCCCCAG	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367188.4	1	1	hg19	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615334	0.46631	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19394	2.15	5.38	-7.88	0.01178	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.746215	0.13044	N	0.418281	T	0.08758	0.0217	L	0.28014	0.82	0.36487	D	0.868218	B	0.20550	0.046	B	0.22601	0.04	T	0.17077	-1.0381	10	0.28530	T	0.3	-6.382	2.3305	0.04234	0.1917:0.3548:0.2793:0.1742	.	540	Q5SWA1	PR15B_HUMAN	D	540;450	ENSP00000356156:E540D	ENSP00000356156:E540D	E	-	3	2	PPP1R15B	202645543	0.001000	0.12720	0.941000	0.38009	0.786000	0.44442	-1.432000	0.02430	-1.053000	0.03218	-0.250000	0.11733	GAA		TCGA-IB-7651-01A-11D-2154-08	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	1	0	1	75	188	0	49	1	1	53	86	0	49	2		0	0	0	0	0	2	1	1	74	184	0	49	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2B	5287	broad.mit.edu	37	1	204394128	204394128	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204394128C>T	ENST00000367187.3	-	34	5313	c.4757G>A	c.(4756-4758)cGg>cAg	p.R1586Q	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta			52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		CTGGAGCTCCCGCTGCTGCAG	0.572000																								0							SO:0001583	missense			ENST00000367187.3	1	1	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965639	0.92855	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.78595	-1.19;-1.19	5.26	5.26	0.73747	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	M	0.64080	1.96	0.43408	D	0.995544	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.87946	0.2720	10	0.72032	D	0.01	.	18.464	0.90749	0.0:1.0:0.0:0.0	.	1558;1586	F5GWN5;O00750	.;P3C2B_HUMAN	Q	1586;1558	ENSP00000356155:R1586Q;ENSP00000400561:R1558Q	ENSP00000356155:R1586Q	R	-	2	0	PIK3C2B	202660751	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.775000	0.85489	2.465000	0.83290	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1	34	126	0	37	1	9.999969e-01	26	53	0	37	2		0	0	0	0	0	2	1	1	33	123	0	36	2								-3.571059	1	1	121412	2	32	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2B	5287	broad.mit.edu	37	1	204402964	204402964	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204402964A>C	ENST00000367187.3	-	26	4356	c.3800T>G	c.(3799-3801)cTc>cGc	p.L1267R	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta			52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		CTTGCGAATGAGGTTGTAGGC	0.502000																								0							SO:0001583	missense			ENST00000367187.3	1	1	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688735	0.68271	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	D;D	0.82081	-1.57;-1.57	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.072137	0.56097	D	0.000027	D	0.87853	0.6282	L	0.47716	1.5	0.49915	D	0.999835	B;D	0.64830	0.002;0.994	B;D	0.65573	0.017;0.936	D	0.88456	0.3052	10	0.59425	D	0.04	.	15.9741	0.80044	1.0:0.0:0.0:0.0	.	1239;1267	F5GWN5;O00750	.;P3C2B_HUMAN	R	1267;45;1239	ENSP00000356155:L1267R;ENSP00000400561:L1239R	ENSP00000356155:L1267R	L	-	2	0	PIK3C2B	202669587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.236000	0.78154	2.246000	0.74042	0.533000	0.62120	CTC		TCGA-IB-7651-01A-11D-2154-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1	168	894	0	191	1	9.938998e-01	13	30	0	191	2		0	0	0	0	0	2	1	1	165	869	0	191	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2B	5287	broad.mit.edu	37	1	204403006	204403006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204403006C>T	ENST00000367187.3	-	26	4314	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta			52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		ATCATGGAAGCGGCTGGAAGG	0.557000																								0							SO:0001583	missense			ENST00000367187.3	1	1	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247408	0.95305	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.75704	-0.96;-0.96	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.065160	0.64402	D	0.000002	T	0.77585	0.4152	N	0.12961	0.28	0.58432	D	0.999992	P;D	0.89917	0.879;1.0	B;D	0.91635	0.334;0.999	T	0.77127	-0.2702	10	0.34782	T	0.22	.	19.8527	0.96746	0.0:1.0:0.0:0.0	.	1225;1253	F5GWN5;O00750	.;P3C2B_HUMAN	H	1253;31;1225	ENSP00000356155:R1253H;ENSP00000400561:R1225H	ENSP00000356155:R1253H	R	-	2	0	PIK3C2B	202669629	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.731000	0.84895	2.783000	0.95769	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1	218	515	0	134	1	9.999999e-01	23	33	0	134	2		0	0	0	0	0	2	1	1	210	500	0	134	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2B	5287	broad.mit.edu	37	1	204409347	204409347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409347G>A	ENST00000367187.3	-	23	3908	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta			52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		GAGAAGCAGCGGAAGATGACC	0.597000																								0							SO:0001583	missense			ENST00000367187.3	1	1	hg19	CCDS1446.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	24.5	4.534673	0.85812	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.82344	-1.6;-1.6	6.06	5.13	0.70059	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.053074	0.64402	D	0.000001	D	0.87977	0.6314	M	0.84433	2.695	0.52099	D	0.999943	D;D	0.89917	1.0;0.999	D;P	0.67900	0.954;0.828	D	0.89881	0.4030	10	0.72032	D	0.01	.	11.8058	0.52155	0.0:0.1332:0.7284:0.1384	.	1090;1118	F5GWN5;O00750	.;P3C2B_HUMAN	C	1118;1090	ENSP00000356155:R1118C;ENSP00000400561:R1090C	ENSP00000356155:R1118C	R	-	1	0	PIK3C2B	202675970	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.842000	0.48230	1.534000	0.49203	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1	69	429	0	103	1	9.918576e-01	15	33	0	103	2		0	0	0	0	0	2	1	1	69	419	0	102	2								-2.807000	1	1	121412	119	54	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2B	5287	broad.mit.edu	37	1	204409450	204409450	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409450C>T	ENST00000367187.3	-	23	3806		c.e23-1		PIK3C2B_ENST00000424712.2_Splice_Site	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta			52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		CGTCCCCACACTGGATGGAGG	0.552000																								0							SO:0001630	splice_region_variant			ENST00000367187.3	1	1	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074567	0.94000	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2365	0.93862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3C2B	202676073	1.000000	0.71417	0.996000	0.52242	0.525000	0.34531	7.752000	0.85141	2.655000	0.90218	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	0	0	1	100	320	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	98	310	0	79	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3C2B	5287	broad.mit.edu	37	1	204416604	204416604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204416604G>A	ENST00000367187.3	-	16	3005	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta			52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		TTAAGCTTGCGCTGGTCTTCT	0.552000																								0							SO:0001583	missense			ENST00000367187.3	1	1	hg19	CCDS1446.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	17.37	3.373570	0.61624	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.64260	-0.09;-0.08	5.08	4.16	0.48862	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.380247	0.25827	N	0.028051	T	0.60130	0.2245	L	0.54323	1.7	0.35802	D	0.823181	P;P	0.52463	0.953;0.62	P;B	0.47162	0.54;0.326	T	0.70029	-0.4984	10	0.59425	D	0.04	.	8.7611	0.34676	0.0:0.159:0.5768:0.2641	.	817;817	F5GWN5;O00750	.;P3C2B_HUMAN	C	817	ENSP00000356155:R817C;ENSP00000400561:R817C	ENSP00000356155:R817C	R	-	1	0	PIK3C2B	202683227	0.992000	0.36948	0.838000	0.33150	0.807000	0.45602	1.313000	0.33585	1.263000	0.44181	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	0	35	338	0	55	0	9.501524e-01	0	50	0	55	2		0	0	0	0	0	2	1	1	34	321	0	53	2								-12.174290	1	1	121412	89	51	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.890000	1.000000	1.000000	0.993651	0.990000	1	9.900000e-01	1
PIK3C2B	5287	broad.mit.edu	37	1	204426936	204426936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204426936C>T	ENST00000367187.3	-	10	2189	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	PIK3C2B_ENST00000496872.1_5'Flank|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta			52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		GTTTCCACGGCGGCCAGGGCG	0.632000																								0							SO:0001583	missense			ENST00000367187.3	1	1	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222775	0.58668	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.60920	0.15;0.22	5.37	5.37	0.77165	.	0.063724	0.64402	D	0.000011	T	0.51702	0.1690	L	0.57536	1.79	0.39730	D	0.97159	B;P	0.38827	0.27;0.649	B;B	0.34093	0.09;0.175	T	0.53208	-0.8471	10	0.18710	T	0.47	.	16.8798	0.86060	0.0:1.0:0.0:0.0	.	545;545	F5GWN5;O00750	.;P3C2B_HUMAN	T	545	ENSP00000356155:A545T;ENSP00000400561:A545T	ENSP00000356155:A545T	A	-	1	0	PIK3C2B	202693559	0.999000	0.42202	0.348000	0.25681	0.689000	0.40095	4.266000	0.58871	2.509000	0.84616	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1	37	209	0	39	1	9.588825e-01	11	21	0	39	2		0	0	0	0	0	2	1	1	37	206	0	39	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PLA2G2D	26279	broad.mit.edu	37	1	20442831	20442831	+	Silent	SNP	C	C	T	rs150798636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20442831C>T	ENST00000375105.3	-	2	238	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID			3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)			GTTACCAGTCCGTGGCATCTT	0.522000										Multiple Myeloma(11;0.12)			Melanoma(60;742 1548 31762 39240)											0							SO:0001819	synonymous_variant			ENST00000375105.3	1	0	hg19	CCDS203.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1	0	0	1	33	272	0	103	0	8.473327e-01	0	30	0	103	2		0	0	0	0	0	2	1	1	32	259	0	102	2								-2.473676	0	1	121412	889	61	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.920000	0.720000	1.000000	0.990000	0.912036	0.920000	1	8.300000e-01	9.800000e-01
PIK3C2B	5287	broad.mit.edu	37	1	204429749	204429749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204429749G>A	ENST00000367187.3	-	7	1907	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	p.R451C(1)		52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		TCAAACTTGCGGCAGTATTGG	0.562000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367187.3	1	1	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524363	0.64747	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61742	0.08;0.11	5.81	5.81	0.92471	Phosphoinositide 3-kinase, ras-binding (2);	0.297810	0.33023	N	0.005363	T	0.67767	0.2928	L	0.43923	1.385	0.48236	D	0.999613	D;D	0.89917	0.998;1.0	P;D	0.87578	0.827;0.998	T	0.66380	-0.5938	10	0.46703	T	0.11	.	12.5393	0.56161	0.0:0.0:0.8338:0.1662	.	451;451	F5GWN5;O00750	.;P3C2B_HUMAN	C	451	ENSP00000356155:R451C;ENSP00000400561:R451C	ENSP00000356155:R451C	R	-	1	0	PIK3C2B	202696372	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.537000	0.45702	2.746000	0.94184	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	1	0	1	59	263	0	54	1	9.273872e-01	3	19	0	54	2		0	0	0	0	0	2	1	1	57	259	0	53	2								-2.679001	1	1	121412	3	36	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRN2	10446	broad.mit.edu	37	1	204587617	204587617	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587617G>T	ENST00000367175.1	-	1	3716	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M|LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2			38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		GCCCCCACCAGGTTCTGGGCC	0.652000																								0							SO:0001583	missense			ENST00000367175.1	1	1	hg19	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690355	0.29962	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.67171	-0.25;-0.25;-0.25	5.37	2.4	0.29515	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32120	N	0.006559	T	0.68559	0.3014	L	0.31752	0.955	0.35431	D	0.794037	D	0.89917	1.0	D	0.87578	0.998	T	0.72197	-0.4363	10	0.44086	T	0.13	.	9.3331	0.38034	0.3601:0.0:0.6399:0.0	.	502	O75325	LRRN2_HUMAN	M	502	ENSP00000356144:L502M;ENSP00000356145:L502M;ENSP00000356143:L502M	ENSP00000356143:L502M	L	-	1	2	LRRN2	202854240	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.626000	0.24492	0.615000	0.30124	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	1	0	1	76	238	0	43	1	9.511456e-01	2	16	0	43	2		0	0	0	0	0	2	1	1	75	236	0	43	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRN2	10446	broad.mit.edu	37	1	204587774	204587774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587774G>A	ENST00000367175.1	-	1	3559	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	LRRN2_ENST00000367177.3_Silent_p.A449A|LRRN2_ENST00000367176.3_Silent_p.A449A|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2			38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		GTTCGGGTTCGGCCAGTGCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000367175.1	0	1	hg19	CCDS1448.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	0	0	0	7	276	0	49	0	1.120974e-01	0	20	0	49	2		0	0	0	0	0	2	1	9.797039e-01	6	272	0	49	2								-3.642038	1	1	121404	9	37	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.390000	0.150000	1.000000	0.320000	0.504335	0.390000	0	2.500000e-01	1
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2			38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		CTGTTGCTCTGCAGGAGCAGG	0.617000																								0							SO:0001587	stop_gained			ENST00000367175.1	0	1	hg19	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	40	8.426355	0.98806	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	.	.	.	5.67	5.67	0.87782	.	0.000000	0.40469	N	0.001081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4225	0.94727	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000356143:Q77X	Q	-	1	0	LRRN2	202855515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.866000	0.99616	2.684000	0.91462	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	1	0	1	64	355	0	80	0	9.525927e-01	1	29	0	80	2		0	0	0	0	0	2	1	1	63	351	0	79	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFASC	23114	broad.mit.edu	37	1	204938111	204938111	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204938111G>A	ENST00000401399.1	+	9	1202		c.e9+1		NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000339876.6_Splice_Site			O94856	NFASC_HUMAN	neurofascin			81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		AGAGTAAAGGGTACGTTGTGT	0.522000																								0							SO:0001630	splice_region_variant			ENST00000401399.1	1	1	hg19	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945740	0.92593	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000367173	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203204734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.722000	0.98770	2.741000	0.93983	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	1	0	0	10	148	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.963209e-01	10	140	0	32	2								-13.941530	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.940000	0.460000	1.000000	1.000000	0.863150	0.940000	1	6.600000e-01	1
NFASC	23114	broad.mit.edu	37	1	204948168	204948168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948168C>T	ENST00000401399.1	+	17	2148	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L|NFASC_ENST00000367172.4_Missense_Mutation_p.P650L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000339876.6_Missense_Mutation_p.P650L			O94856	NFASC_HUMAN	neurofascin			81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		ACCTGGATCCCCGGGGATGCT	0.642000																								0							SO:0001583	missense			ENST00000401399.1	0	1	hg19	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.810159|4.810159	0.90707|0.90707	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.61510|0.61274	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1|0.12	5.31|5.31	5.31|5.31	0.75309|0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.52532|0.52532	D|D	0.000068|0.000068	T|T	0.79411|0.79411	0.4441|0.4441	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	0.999;1.0;0.997;0.995;0.999;0.999|.	T|T	0.82536|0.82536	-0.0408|-0.0408	10|8	0.87932|0.52906	D|T	0|0.07	.|.	18.583|18.583	0.91178|0.91178	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	650;661;646;635;650;646|.	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.|.	L|S	650;635;650;650;650;650;661;646;646;650;629;650;646;646;637|620	ENSP00000356140:P650L;ENSP00000356139:P635L;ENSP00000356138:P650L;ENSP00000342128:P650L;ENSP00000344786:P650L;ENSP00000343509:P650L;ENSP00000438614:P646L;ENSP00000353154:P646L;ENSP00000356137:P650L;ENSP00000385676:P629L;ENSP00000385637:P650L;ENSP00000384061:P646L;ENSP00000425908:P646L;ENSP00000415031:P637L|ENSP00000356141:P620S	ENSP00000295776:P661L|ENSP00000356141:P620S	P|P	+|+	2|1	0|0	NFASC|NFASC	203214791|203214791	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.576000|0.576000	0.36127|0.36127	7.631000|7.631000	0.83237|0.83237	2.476000|2.476000	0.83614|0.83614	0.655000|0.655000	0.94253|0.94253	CCC|CCG		TCGA-IB-7651-01A-11D-2154-08	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	0	0	1	4	14	0	9	0	8.686636e-01	0	16	0	9	2		0	0	0	0	0	2	1	8.982976e-01	4	14	0	9	2								-11.395380	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.995649	0.990000	1	9.900000e-01	1
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948557C>T	ENST00000401399.1	+	18	2245	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000367172.4_Silent_p.P682P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P			O94856	NFASC_HUMAN	neurofascin	p.P678P(3)|p.P682P(3)		81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		CCAAGTACCCCGGCAGCGTTA	0.572000																								6	Substitution - coding silent(6)						SO:0001819	synonymous_variant			ENST00000401399.1	1	1	hg19	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	1.163	-0.643289	0.03531	.	.	ENSG00000163531	ENST00000367173	T	0.60040	0.22	5.43	0.461	0.16689	.	0.382752	0.22265	N	0.062346	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51411	-0.8709	7	0.87932	D	0	.	0.7637	0.01011	0.4593:0.1208:0.2102:0.2096	.	.	.	.	L	652	ENSP00000356141:P652L	ENSP00000356141:P652L	P	+	2	0	NFASC	203215180	0.000000	0.05858	0.984000	0.44739	0.013000	0.08279	-2.110000	0.01334	-0.168000	0.10853	-1.193000	0.01689	CCG		TCGA-IB-7651-01A-11D-2154-08	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	1	0	1	141	604	0	135	0	7.719697e-01	0	14	0	135	2		0	0	0	0	0	2	1	1	139	588	0	134	2								-2.564015	1	1	121412	2	37	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFASC	23114	broad.mit.edu	37	1	204985538	204985538	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204985538C>T	ENST00000401399.1	+	29	3793	c.3594C>T	c.(3592-3594)ggC>ggT	p.G1198G	NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000367172.4_Silent_p.G1305G|NFASC_ENST00000367170.4_Silent_p.G1226G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000339876.6_Silent_p.G1198G			O94856	NFASC_HUMAN	neurofascin			81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		GCGAGGGTGGCGAGGGTCAGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000401399.1	1	1	hg19	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120606	0.20877	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.34	-2.51	0.06365	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33954	-0.9848	4	.	.	.	.	4.3579	0.11187	0.1509:0.3015:0.4082:0.1395	.	.	.	.	V	999;256	.	.	A	+	2	0	NFASC	203252161	0.000000	0.05858	0.967000	0.41034	0.968000	0.65278	-2.994000	0.00656	-0.231000	0.09825	-0.344000	0.07964	GCG		TCGA-IB-7651-01A-11D-2154-08	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	1	0	0	69	674	0	117	0	7.644449e-01	0	29	0	117	2		0	0	0	0	0	2	1	1	68	660	0	114	2								-3.075755	1	1	121412	2	34	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.960000	1.000000	1.000000	0.998039	0.990000	1	9.900000e-01	1
CNTN2	6900	broad.mit.edu	37	1	205027766	205027766	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205027766C>A	ENST00000331830.4	+	5	746	c.462C>A	c.(460-462)ccC>ccA	p.P154P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)			54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		TGATGTTGCCCTGTAACCCAC	0.597000													Melanoma(183;2548 2817 37099 41192)											0							SO:0001819	synonymous_variant			ENST00000331830.4	1	1	hg19	CCDS1449.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	1	0	1	39	144	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	38	142	0	29	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN2	6900	broad.mit.edu	37	1	205034326	205034326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205034326G>A	ENST00000331830.4	+	13	1915	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)			54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		ACCTTCACCTGGACCCTGGAC	0.582000													Melanoma(183;2548 2817 37099 41192)											0							SO:0001587	stop_gained			ENST00000331830.4	0	1	hg19	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	43	9.923856	0.99297	.	.	ENSG00000184144	ENST00000331830	.	.	.	5.71	5.71	0.89125	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4451	0.94843	0.0:0.0:1.0:0.0	.	.	.	.	X	544	.	ENSP00000330633:W544X	W	+	2	0	CNTN2	203300949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.697000	0.92050	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	1	0	0	204	531	0	175		0	0	0	0	175	2		0	0	0	0	0	2	1	1	202	512	0	171	2								-9.511623	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN2	6900	broad.mit.edu	37	1	205039089	205039089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205039089C>T	ENST00000331830.4	+	18	2615	c.2331C>T	c.(2329-2331)agC>agT	p.S777S		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)			54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		GCAACGAGAGCGTCCGGCCCT	0.647000													Melanoma(183;2548 2817 37099 41192)											0							SO:0001819	synonymous_variant			ENST00000331830.4	1	1	hg19	CCDS1449.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	1	0	1	188	549	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	186	542	0	113	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSTYK	25778	broad.mit.edu	37	1	205156672	205156672	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205156672C>T	ENST00000367162.3	-	2	558	c.528G>A	c.(526-528)acG>acA	p.T176T	DSTYK_ENST00000367160.4_Silent_p.T176T|DSTYK_ENST00000367161.3_Silent_p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	p.T176T(1)		14					GAGCAACCAGCGTGTGCACTA	0.572000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000367162.3	1	1	hg19	CCDS1451.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	1	0	1	66	201	0	53	1	9.854605e-01	3	20	0	53	2		0	0	0	0	0	2	1	1	65	198	0	53	2								-4.891701	1	1	121412	5	40	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBXN10	127733	broad.mit.edu	37	1	20517570	20517570	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20517570G>T	ENST00000375099.3	+	2	600	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10			14					CCGTGGAGAGGAAATTCATCG	0.522000																								0							SO:0001583	missense			ENST00000375099.3	1	1	hg19	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	4.906	0.168388	0.09339	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.66	2.67	0.31697	.	0.973186	0.08458	N	0.942867	T	0.40119	0.1104	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27365	-1.0076	9	0.18276	T	0.48	-4.3621	10.3827	0.44121	0.0872:0.1469:0.766:0.0	.	172	Q96LJ8	UBX10_HUMAN	S	172	.	ENSP00000364240:R172S	R	+	3	2	UBXN10	20390157	0.867000	0.29959	0.099000	0.21106	0.066000	0.16364	2.421000	0.44688	1.168000	0.42723	0.591000	0.81541	AGG		TCGA-IB-7651-01A-11D-2154-08	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	1	0	1	31	289	0	77	1	9.806764e-01	13	48	0	77	2		0	0	0	0	0	2	1	1	31	282	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.890000	0.670000	1.000000	0.990000	0.884884	0.890000	1	7.800000e-01	9.700000e-01
TMCC2	9911	broad.mit.edu	37	1	205210944	205210944	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205210944C>T	ENST00000358024.3	+	2	908	c.519C>T	c.(517-519)ggC>ggT	p.G173G	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.G95G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2			20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)		gcagtgggggcggcagcagcg	0.736000																								0							SO:0001819	synonymous_variant			ENST00000358024.3	1	1	hg19	CCDS30984.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	1	0	0	28	89	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1	27	85	0	17	2								-20.000000	1	1	117836	4	31	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMCC2	9911	broad.mit.edu	37	1	205238374	205238374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205238374C>T	ENST00000358024.3	+	3	1433	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	TMCC2_ENST00000329800.7_Silent_p.A108A|TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.A270A	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2			20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)		AGACCATCGCCCAGCTGCACA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000358024.3	1	1	hg19	CCDS30984.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	1	0	1	73	213	0	54	0	8.486628e-01	1	11	0	54	2		0	0	0	0	0	2	1	1	73	210	0	54	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUAK2	81788	broad.mit.edu	37	1	205272760	205272760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205272760G>A	ENST00000367157.3	-	7	1831	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2	p.R569W(1)		23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)		ACACAGCCCCGCAGTGGGGGC	0.667000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367157.3	1	1	hg19	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304897	0.60305	.	.	ENSG00000163545	ENST00000367157	D	0.85773	-2.03	4.82	1.6	0.23607	.	0.000000	0.40908	D	0.000994	D	0.90549	0.7038	M	0.72894	2.215	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	D	0.89683	0.3892	10	0.87932	D	0	.	12.9973	0.58654	0.0:0.0:0.5903:0.4097	.	569	Q9H093	NUAK2_HUMAN	W	569	ENSP00000356125:R569W	ENSP00000356125:R569W	R	-	1	2	NUAK2	203539383	1.000000	0.71417	0.908000	0.35775	0.880000	0.50808	2.097000	0.41748	0.032000	0.15435	0.393000	0.25936	CGG		TCGA-IB-7651-01A-11D-2154-08	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	1	0	1	78	334	0	70	0	8.043004e-01	1	14	0	70	2		0	0	0	0	0	2	1	1	76	327	0	68	2								-3.383208	1	1	121284	7	39	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUAK2	81788	broad.mit.edu	37	1	205275355	205275355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205275355C>T	ENST00000367157.3	-	5	777	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2			23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)		CAATCTCTGGCGAGGCATAGA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000367157.3	1	1	hg19	CCDS1453.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	1	0	1	88	367	0	83	0	9.823071e-01	1	28	0	83	2		0	0	0	0	0	2	1	1	85	359	0	82	2								-3.526409	1	1	121412	10	41	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHDC8A	55220	broad.mit.edu	37	1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A			14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)		CCTCCCACGGCGAGGAGGCAG	0.597000																								0							SO:0001583	missense			ENST00000367156.3	1	1	hg19	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178250	0.78564	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.43	4.52	0.55395	Kelch-type beta propeller (1);	0.106321	0.64402	N	0.000005	T	0.77003	0.4067	L	0.44542	1.39	0.53688	D	0.999974	D;D	0.69078	0.997;0.981	P;P	0.56042	0.79;0.468	T	0.77247	-0.2658	10	0.45353	T	0.12	-14.2618	14.1046	0.65080	0.0:0.9267:0.0:0.0733	.	217;330	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	T	330;330;330;217	ENSP00000356123:A330T;ENSP00000356124:A330T;ENSP00000442229:A330T;ENSP00000443447:A217T	ENSP00000356123:A330T	A	-	1	0	KLHDC8A	203573215	1.000000	0.71417	0.973000	0.42090	0.426000	0.31534	4.437000	0.59955	1.297000	0.44761	-0.194000	0.12790	GCC		TCGA-IB-7651-01A-11D-2154-08	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	0	0	0	31	775	0	115	0	2.159809e-02	0	6	0	115	2		0	0	0	0	0	2	1	1	31	763	0	112	2								-3.479899	1	1	121412	24	49	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.530000	0.350000	1.000000	0.500000	0.622792	0.530000	0	4.300000e-01	1
KLHDC8A	55220	broad.mit.edu	37	1	205312649	205312649	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205312649C>T	ENST00000367156.3	-	5	900	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHDC8A_ENST00000367155.3_Silent_p.E28E|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A			14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)		GGCCCCCGGTCTCCAGCAGGG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000367156.3	1	1	hg19	CCDS30985.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	0	0	0	60	156	0	36	0	1.922824e-01	1	2	0	36	2		0	0	0	0	0	2	1	1	59	154	0	36	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LEMD1	93273	broad.mit.edu	37	1	205350901	205350901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205350901A>G	ENST00000367153.4	-	6	533	c.431T>C	c.(430-432)aTc>aCc	p.I144T	LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1			3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)		CCAGCTCTCGATAGTCTGGTC	0.478000																								0							SO:0001583	missense			ENST00000367153.4	1	1	hg19	CCDS55679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.321|8.321	0.824374|0.824374	0.16678|0.16678	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367152;ENST00000367153;ENST00000367151|ENST00000367154;ENST00000391936;ENST00000367149	T;T;T|T;T;T	0.46819|0.55930	0.86;0.89;0.86|0.86;0.86;0.49	4.52|4.52	-9.04|-9.04	0.00734|0.00734	.|.	5.603240|.	0.00397|.	N|.	0.000042|.	T|T	0.32285|0.32285	0.0824|0.0824	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.06786|0.02656	0.001;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.0|0.0	T|T	0.34229|0.34229	-0.9837|-0.9837	9|8	0.59425|0.87932	D|D	0.04|0	-43.6463|-43.6463	4.6566|4.6566	0.12620|0.12620	0.5749:0.1058:0.2172:0.1021|0.5749:0.1058:0.2172:0.1021	.|.	103;144|97	Q68G75-3;Q68G75|Q68G75-5	.;LEMD1_HUMAN|.	T|P	103;144;103|97;97;56	ENSP00000356120:I103T;ENSP00000356121:I144T;ENSP00000356119:I103T|ENSP00000356122:S97P;ENSP00000375801:S97P;ENSP00000356117:S56P	ENSP00000356119:I103T|ENSP00000356117:S56P	I|S	-|-	2|1	0|0	LEMD1|LEMD1	203617524|203617524	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.482000|-1.482000	0.02320|0.02320	-2.209000|-2.209000	0.00739|0.00739	-0.934000|-0.934000	0.02701|0.02701	ATC|TCG		TCGA-IB-7651-01A-11D-2154-08	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	1	0	1	86	958	0	187	1	9.790180e-01	9	60	0	187	2		0	0	0	0	0	2	1	1	86	943	0	187	2								-19.037870	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.870000	1.000000	1.000000	0.988881	0.990000	1	9.800000e-01	1
CDK18	5129	broad.mit.edu	37	1	205492385	205492385	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205492385C>A	ENST00000360066.2	+	2	391	c.90C>A	c.(88-90)ttC>ttA	p.F30L	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L|CDK18_ENST00000429964.2_Missense_Mutation_p.F30L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18			19					TGGCTGAATTCACGGAGCAAT	0.552000													Pancreas(180;489 2072 28461 40831 44265)											0							SO:0001583	missense			ENST00000360066.2	1	1	hg19	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592578	0.28357	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.70516	-0.29;-0.49;-0.29;1.97;1.65	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	N	0.16307	0.4	0.54753	D	0.999988	B;B	0.13145	0.006;0.007	B;B	0.15870	0.014;0.013	T	0.48917	-0.8992	10	0.06625	T	0.88	-39.0784	15.664	0.77213	0.0:1.0:0.0:0.0	.	30;30	Q07002-3;Q07002-2	.;.	L	30	ENSP00000399082:F30L;ENSP00000423665:F30L;ENSP00000353176:F30L;ENSP00000397831:F30L;ENSP00000391324:F30L	ENSP00000353176:F30L	F	+	3	2	CDK18	203759008	1.000000	0.71417	0.997000	0.53966	0.422000	0.31414	2.510000	0.45468	2.728000	0.93425	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	1	0	1	139	340	0	79	1	9.986064e-01	7	20	0	79	2		0	0	0	0	0	2	1	1	138	333	0	79	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFSD4	148808	broad.mit.edu	37	1	205553121	205553121	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205553121G>T	ENST00000367147.4	+	4	822	c.729G>T	c.(727-729)aaG>aaT	p.K243N	MFSD4_ENST00000536357.1_Missense_Mutation_p.K156N|MFSD4_ENST00000539267.1_Missense_Mutation_p.K243N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4			16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)		TGCTGTCCAAGGAGCGGCTGC	0.637000																								0							SO:0001583	missense			ENST00000367147.4	0	1	hg19	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659883	0.47572	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80653	1.68;1.69;-1.4	5.57	4.6	0.57074	Major facilitator superfamily domain, general substrate transporter (1);	0.046302	0.85682	D	0.000000	D	0.85133	0.5627	L	0.58101	1.795	0.46774	D	0.999195	D;B;D	0.89917	1.0;0.07;0.97	D;B;P	0.87578	0.998;0.023;0.725	T	0.82382	-0.0485	10	0.29301	T	0.29	-11.9022	8.5804	0.33626	0.1292:0.0:0.8708:0.0	.	188;156;243	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	N	243;243;156	ENSP00000356115:K243N;ENSP00000445329:K243N;ENSP00000440183:K156N	ENSP00000356115:K243N	K	+	3	2	MFSD4	203819744	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.507000	0.45442	1.199000	0.43173	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	0	0	0	8	446	0	93	1	9.069813e-02	2	23	0	93	2		0	0	0	0	0	2	1	9.882878e-01	8	434	0	91	2								-4.293341	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.270000	0.110000	1.000000	0.230000	0.421518	0.270000	0	1.700000e-01	1
SLC45A3	85414	broad.mit.edu	37	1	205628723	205628723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205628723C>T	ENST00000367145.3	-	5	1596	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3		SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)		AGGCTTAGGGCCTGGCAGGAA	0.622000			T	ETV1, ETV5, ELK4, ERG	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)			Dom	yes		1	1q32	85414	solute carrier family 45, member 3		E	0							SO:0001583	missense			ENST00000367145.3	1	1	hg19	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616403	0.46736	.	.	ENSG00000158715	ENST00000367145	T	0.43688	0.94	5.16	4.18	0.49190	.	0.216749	0.39020	N	0.001486	T	0.29524	0.0736	L	0.36672	1.1	0.40475	D	0.980389	B	0.10296	0.003	B	0.08055	0.003	T	0.13656	-1.0501	10	0.37606	T	0.19	-23.9536	7.154	0.25626	0.1717:0.7401:0.0:0.0882	.	434	Q96JT2	S45A3_HUMAN	D	434	ENSP00000356113:G434D	ENSP00000356113:G434D	G	-	2	0	SLC45A3	203895346	0.395000	0.25254	0.982000	0.44146	0.967000	0.64934	1.712000	0.37940	2.401000	0.81631	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	1	0	1	43	173	0	48	1	9.995329e-01	26	23	0	48	2		0	0	0	0	0	2	1	1	43	172	0	48	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB7L1	0	broad.mit.edu	37	1	205739556	205739556	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205739556T>G	ENST00000367139.3	-	6	829	c.526A>C	c.(526-528)Aat>Cat	p.N176H	RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN				10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)		TCTGTGGAATTTCTCATCATC	0.408000													Pancreas(25;658 872 27763 34889 38531)											0							SO:0001583	missense			ENST00000367139.3	1	1	hg19	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280869	0.40394	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.80123	-1.34;-1.34;-0.66;-1.34;-1.34	5.39	4.23	0.50019	.	0.310723	0.34959	N	0.003548	T	0.67961	0.2949	L	0.49256	1.55	0.30130	N	0.804901	P;B	0.46277	0.875;0.008	B;B	0.31751	0.135;0.01	T	0.68800	-0.5313	10	0.48119	T	0.1	-10.795	7.2088	0.25921	0.1446:0.0:0.1509:0.7045	.	152;176	B4E1K3;O14966	.;RAB7L_HUMAN	H	176;176;104;152;176	ENSP00000356107:N176H;ENSP00000235932:N176H;ENSP00000416613:N104H;ENSP00000389899:N152H;ENSP00000402910:N176H	ENSP00000235932:N176H	N	-	1	0	RAB7L1	204006179	0.999000	0.42202	0.992000	0.48379	0.985000	0.73830	2.339000	0.43965	0.931000	0.37242	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1	1	0	1	35	247	0	53	1	9.999653e-01	15	98	0	53	2		0	0	0	0	0	2	1	1	34	243	0	53	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999897	0.990000	1	9.900000e-01	1
SLC41A1	254428	broad.mit.edu	37	1	205779272	205779272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779272G>T	ENST00000367137.3	-	2	1312	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1			17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)		AGTACTTGCAGCCCGATGGAA	0.602000																								0							SO:0001583	missense			ENST00000367137.3	1	1	hg19	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003766	0.74932	.	.	ENSG00000133065	ENST00000367137	T	0.32023	1.47	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.56769	1.78	0.58432	D	0.999997	D	0.61697	0.99	P	0.61800	0.894	T	0.43988	-0.9357	10	0.44086	T	0.13	-7.8851	14.6033	0.68456	0.0714:0.0:0.9286:0.0	.	100	Q8IVJ1	S41A1_HUMAN	M	100	ENSP00000356105:L100M	ENSP00000356105:L100M	L	-	1	2	SLC41A1	204045895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.473000	0.66774	1.379000	0.46325	0.555000	0.69702	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1	1	0	1	134	416	0	99	1	9.999999e-01	15	61	0	99	2		0	0	0	0	0	2	1	1	131	408	0	98	2								-5.470076	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC41A1	254428	broad.mit.edu	37	1	205779550	205779550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779550G>A	ENST00000367137.3	-	2	1034	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1			17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)		GACGTCCTTCGGCTCTGGCTT	0.552000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000367137.3	1	1	hg19	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181026	0.38511	.	.	ENSG00000133065	ENST00000367137	T	0.30714	1.52	5.64	3.78	0.43462	.	0.360313	0.28665	N	0.014554	T	0.21921	0.0528	L	0.39898	1.24	0.34108	D	0.662706	B	0.02656	0.0	B	0.01281	0.0	T	0.15954	-1.0419	10	0.39692	T	0.17	-8.2833	5.6147	0.17423	0.1614:0.0:0.645:0.1936	.	7	Q8IVJ1	S41A1_HUMAN	L	7	ENSP00000356105:P7L	ENSP00000356105:P7L	P	-	2	0	SLC41A1	204046173	0.930000	0.31532	0.805000	0.32314	0.851000	0.48451	1.331000	0.33793	0.751000	0.32900	-0.266000	0.10368	CCG		TCGA-IB-7651-01A-11D-2154-08	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1	1	0	1	123	439	0	94	1	9.999989e-01	17	55	0	94	2		0	0	0	0	0	2	1	1	122	430	0	93	2								-3.917337	1	1	121412	1	36	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AVPR1B	553	broad.mit.edu	37	1	206225109	206225109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206225109C>T	ENST00000367126.4	+	1	1134	c.669C>T	c.(667-669)tgC>tgT	p.C223C	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B			20			BRCA - Breast invasive adenocarcinoma(75;0.0312)	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCATCTGCCATGAGATCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000367126.4	1	1	hg19	CCDS30994.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	1	0	0	98	426	0	90	0	0	0	1	0	90	2		0	0	0	0	0	2	1	1	98	416	0	87	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTSE	1510	broad.mit.edu	37	1	206319192	206319192	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206319192C>A	ENST00000358184.2	+	3	435	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y|CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y|CTSE_ENST00000361052.3_Missense_Mutation_p.S106Y	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E			16			BRCA - Breast invasive adenocarcinoma(75;0.0754)		TGGGTCCCCTCTGTGTACTGC	0.582000																								0							SO:0001583	missense			ENST00000358184.2	1	1	hg19	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289747	0.80914	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.62788	-0.0;-0.0;0.06;0.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	D	0.85062	0.5611	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.993	D	0.89303	0.3627	10	0.87932	D	0	.	17.9775	0.89131	0.0:1.0:0.0:0.0	.	31;106;106	B4DNU8;P14091-2;P14091-1	.;.;.	Y	106;106;106;31	ENSP00000350911:S106Y;ENSP00000354337:S106Y;ENSP00000353350:S106Y;ENSP00000394607:S31Y	ENSP00000350911:S106Y	S	+	2	0	CTSE	204485815	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	7.051000	0.76627	2.655000	0.90218	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	1	0	1	107	253	0	57	1	1	1023	1014	0	57	2		0	0	0	0	0	2	1	1	102	247	0	56	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTSE	1510	broad.mit.edu	37	1	206331211	206331211	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206331211C>T	ENST00000360218.2	+	8	1179	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTSE_ENST00000432969.2_Silent_p.L284L|CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000358184.2_3'UTR	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E			16			BRCA - Breast invasive adenocarcinoma(75;0.0754)		CTGTGCCTGCCTGTCTGACAG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000360218.2	1	1	hg19	CCDS1461.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTSE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087999.1	0	0	0	12	446	0	70	1	1	94	2407	0	70	2		0	0	0	0	0	2	1	9.989600e-01	12	432	0	70	2								-2.981433	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.390000	0.190000	1.000000	0.340000	0.507399	0.390000	0	2.700000e-01	1
SRGAP2	23380	broad.mit.edu	37	1	206632020	206632020	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206632020C>T	ENST00000414007.1	+	18	2139	c.2139C>T	c.(2137-2139)gaC>gaT	p.D713D	SRGAP2_ENST00000419187.2_Silent_p.D171D			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2			4	Breast(84;0.137)				TTCGGAGTGACAGCCATGGGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000414007.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.12|10.12	1.264395|1.264395	0.23136|0.23136	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000426388	.|.	.|.	.|.	6.06|6.06	0.66|0.66	0.17868|0.17868	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31451	.|0.0797	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35798	.|-0.9774	.|3	.|.	.|.	.|.	.|.	4.5869|4.5869	0.12287|0.12287	0.1155:0.5353:0.2235:0.1256|0.1155:0.5353:0.2235:0.1256	.|.	.|.	.|.	.|.	X|I	767|149	.|.	.|.	Q|T	+|+	1|2	0|0	SRGAP2|SRGAP2	204698643|204698643	0.988000|0.988000	0.35896|0.35896	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	0.577000|0.577000	0.23758|0.23758	0.130000|0.130000	0.18549|0.18549	0.655000|0.655000	0.94253|0.94253	CAG|ACA		TCGA-IB-7651-01A-11D-2154-08	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	17	74	0	24	1	9.928572e-01	6	33	0	24	2		0	0	0	0	0	2	1	9.999776e-01	16	73	0	24	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
IKBKE	9641	broad.mit.edu	37	1	206647703	206647703	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206647703C>A	ENST00000367120.3	+	4	490	c.117C>A	c.(115-117)gtC>gtA	p.V39V	IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000463979.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon			32	Breast(84;0.137)				CTGTGAAGGTCTTCAACACTA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000367120.3	1	1	hg19	CCDS30996.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1	1	0	1	60	287	0	67	1	9.889591e-01	10	26	0	67	2		0	0	0	0	0	2	1	1	60	282	0	65	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IKBKE	9641	broad.mit.edu	37	1	206664154	206664154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206664154C>T	ENST00000367120.3	+	17	2069	c.1696C>T	c.(1696-1698)Ctt>Ttt	p.L566F	IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon			32	Breast(84;0.137)				TCCTCCAGGGCTTGGCTACAA	0.542000											OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000367120.3	1	1	hg19	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160932	0.78226	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.22945	1.93;1.93	5.61	4.6	0.57074	.	0.114512	0.39544	N	0.001329	T	0.42810	0.1219	M	0.64997	1.995	0.37720	D	0.92488	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.47459	-0.9116	10	0.72032	D	0.01	-0.7411	6.4145	0.21710	0.0:0.8484:0.0:0.1515	.	481;566	Q3B754;Q14164	.;IKKE_HUMAN	F	566;481	ENSP00000356087:L566F;ENSP00000444529:L481F	ENSP00000356087:L566F	L	+	1	0	IKBKE	204730777	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	1.776000	0.38594	2.656000	0.90262	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1	1	0	1	48	333	0	63	1	8.542019e-01	2	24	0	63	2		0	0	0	0	0	2	1	1	47	326	0	62	2								-19.649320	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
DYRK3	8444	broad.mit.edu	37	1	206821546	206821546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206821546G>A	ENST00000367109.2	+	3	1171	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.D315N|DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3			25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)		TATTCACTGCGATCTGAAGCC	0.458000													Melanoma(164;427 2622 26826 51707)											0							SO:0001583	missense			ENST00000367109.2	1	1	hg19	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486637	0.84854	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	D;D;D	0.92965	-3.14;-3.14;-3.14	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98503	1.0615	10	0.87932	D	0	.	17.8295	0.88677	0.0:0.0:1.0:0.0	.	335;315	O43781;O43781-2	DYRK3_HUMAN;.	N	335;315;315	ENSP00000356076:D335N;ENSP00000356075:D315N;ENSP00000356073:D315N	ENSP00000356073:D315N	D	+	1	0	DYRK3	204888169	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	9.647000	0.98478	2.692000	0.91855	0.448000	0.29417	GAT		TCGA-IB-7651-01A-11D-2154-08	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	1	0	1	90	526	0	94	1	9.951291e-01	8	41	0	94	2		0	0	0	0	0	2	1	1	90	519	0	93	2								-3.017896	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAIM3	9214	broad.mit.edu	37	1	207087198	207087198	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087198C>A	ENST00000367091.3	-	2	422	c.279G>T	c.(277-279)caG>caT	p.Q93H	FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3			15	Breast(84;0.201)				TTTCTGTCAGCTGTGTTACCT	0.527000																								0							SO:0001583	missense			ENST00000367091.3	1	1	hg19	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	7.021	0.558618	0.13436	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.28	-0.098	0.13630	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.381571	0.22609	N	0.057854	T	0.16171	0.0389	L	0.39326	1.205	0.09310	N	1	P	0.46142	0.873	P	0.45474	0.482	T	0.09997	-1.0649	10	0.51188	T	0.08	-5.8428	3.8053	0.08774	0.284:0.4736:0.0:0.2424	.	93	O60667	FAIM3_HUMAN	H	93;93;93;93;124	ENSP00000356058:Q93H;ENSP00000403356:Q93H;ENSP00000432936:Q93H;ENSP00000437331:Q93H;ENSP00000436316:Q124H	ENSP00000356058:Q93H	Q	-	3	2	FAIM3	205153821	0.008000	0.16893	0.002000	0.10522	0.076000	0.17211	-0.202000	0.09451	-0.009000	0.14296	-1.858000	0.00562	CAG		TCGA-IB-7651-01A-11D-2154-08	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	0	0	0	21	559	1	100	0	9.810028e-02	0	14	1	100	2		0	0	0	0	0	2	1	6.628306e-01	21	549	1	100	19								-3.812423	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.510000	0.310000	1.000000	0.460000	0.604024	0.510000	0	3.900000e-01	1
FAIM3	9214	broad.mit.edu	37	1	207087392	207087392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087392G>T	ENST00000367091.3	-	2	228	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3			15	Breast(84;0.201)				GATCCGCCCAGCTCCCCCTCT	0.537000																								0							SO:0001583	missense			ENST00000367091.3	1	1	hg19	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900391	0.17686	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.28	2.18	0.27775	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.370929	0.19644	N	0.109386	T	0.07503	0.0189	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.61328	0.887	T	0.27400	-1.0075	10	0.33141	T	0.24	-5.8687	3.0783	0.06254	0.0978:0.1775:0.5413:0.1834	.	29	O60667	FAIM3_HUMAN	M	29;29;29;29;60	ENSP00000356058:L29M;ENSP00000403356:L29M;ENSP00000432936:L29M;ENSP00000437331:L29M;ENSP00000436316:L60M	ENSP00000356058:L29M	L	-	1	2	FAIM3	205154015	0.133000	0.22466	0.124000	0.21820	0.021000	0.10359	0.731000	0.26058	0.604000	0.29930	-0.122000	0.15005	CTG		TCGA-IB-7651-01A-11D-2154-08	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	1	0	1	174	427	0	106	0	9.974973e-01	0	25	0	106	2		0	0	0	0	0	2	1	1	171	417	0	106	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCAMR	83953	broad.mit.edu	37	1	207131926	207131926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207131926G>A	ENST00000324852.4	-	8	2143	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000486178.1_5'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity			11					TCATCCTGGAGCATCTTTCTT	0.537000													Ovarian(199;1883 2142 16966 44409 45154)											0							SO:0001583	missense			ENST00000324852.4	1	1	hg19	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349753	0.41599	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.07327	3.2	4.73	-1.11	0.09840	.	0.717863	0.11432	N	0.564723	T	0.05135	0.0137	L	0.38838	1.175	0.09310	N	0.999999	P;B	0.36010	0.532;0.21	B;B	0.32342	0.144;0.088	T	0.33650	-0.9860	10	0.54805	T	0.06	-3.8209	1.4804	0.02435	0.1754:0.1378:0.4057:0.2811	.	532;512	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	F	557;515	ENSP00000316491:L557F	ENSP00000316491:L557F	L	-	1	0	FCAMR	205198549	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-1.637000	0.02015	-0.069000	0.12931	-0.314000	0.08810	CTC		TCGA-IB-7651-01A-11D-2154-08	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	1	0	1	107	371	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	105	367	0	83	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf116	79098	broad.mit.edu	37	1	207195513	207195513	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207195513G>A	ENST00000359470.5	-	4	1845	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	C1orf116_ENST00000461135.2_Silent_p.S286S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116			29	Prostate(682;0.19)				CCGTGCCCAGGGAGGCCGGGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000359470.5	1	1	hg19	CCDS1475.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	1	0	1	51	134	0	25	1	1	195	123	0	25	2		0	0	0	0	0	2	1	1	48	133	0	25	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf116	79098	broad.mit.edu	37	1	207198256	207198256	+	Missense_Mutation	SNP	G	G	A	rs706846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207198256G>A	ENST00000359470.5	-	3	508	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116			29	Prostate(682;0.19)				TGGGTTATGGGCAGTGCTCGG	0.592000																								0							SO:0001583	missense			ENST00000359470.5	1	1	hg19	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798076	0.50208	.	.	ENSG00000182795	ENST00000359470	T	0.19532	2.14	4.39	3.44	0.39384	.	0.353687	0.27495	N	0.019120	T	0.31451	0.0797	M	0.63843	1.955	0.38128	D	0.938075	D	0.53462	0.96	P	0.52217	0.693	T	0.17018	-1.0383	10	0.32370	T	0.25	-11.1548	12.6221	0.56610	0.0:0.0:0.8266:0.1734	rs706846;rs1770381;rs706846	87	Q9BW04	SARG_HUMAN	S	87	ENSP00000352447:P87S	ENSP00000352447:P87S	P	-	1	0	C1orf116	205264879	0.809000	0.29036	0.008000	0.14137	0.038000	0.13279	2.613000	0.46351	1.084000	0.41184	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	1	0	1	103	331	0	86	1	1	111	88	0	86	2		0	0	0	0	0	2	1	1	99	320	0	85	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YOD1	55432	broad.mit.edu	37	1	207222956	207222956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207222956G>A	ENST00000315927.4	-	2	502	c.456C>T	c.(454-456)acC>acT	p.T152T	YOD1_ENST00000391927.1_Silent_p.T108T|YOD1_ENST00000367084.1_Silent_p.T108T|PFKFB2_ENST00000411990.2_5'UTR	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase			11	Prostate(682;0.19)				CTGGGACCACGGTTCTGGTAA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000315927.4	1	1	hg19	CCDS31002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	1	0	1	61	188	0	47	1	9.989437e-01	18	17	0	47	2		0	0	0	0	0	2	1	1	57	182	0	47	2								-4.507003	1	1	121412	1	27	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFKFB2	5208	broad.mit.edu	37	1	207238421	207238421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207238421G>T	ENST00000367080.3	+	8	672	c.548G>T	c.(547-549)aGa>aTa	p.R183I	PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2			20	Prostate(682;0.19)				GAAAGGAACAGAGAGAACGTG	0.463000																								0							SO:0001583	missense			ENST00000367080.3	1	1	hg19	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267827	0.80469	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.86	5.86	0.93980	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.79475	2.455	0.80722	D	1	B;P;B	0.39576	0.002;0.679;0.005	B;B;B	0.40256	0.005;0.324;0.005	T	0.71899	-0.4453	9	0.56958	D	0.05	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	85;183;183	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	I	85;183;183;150	.	ENSP00000356046:R183I	R	+	2	0	PFKFB2	205305044	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.160000	0.58164	2.777000	0.95525	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1	1	0	1	56	257	0	46	1	1	110	148	0	46	2		0	0	0	0	0	2	1	1	56	254	0	46	2								-3.409141	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD55	1604	broad.mit.edu	37	1	207497997	207497997	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207497997A>G	ENST00000367064.3	+	3	638	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000391921.4_Intron|CD55_ENST00000367067.4_Intron|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000314754.8_Missense_Mutation_p.Y127C	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)			16				Chloramphenicol(DB00446)	GTTGTGGAATATGAGTGCCGT	0.413000																								0							SO:0001583	missense			ENST00000367064.3	1	1	hg19	CCDS31006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.158731|2.158731	0.38119|0.38119	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	.|T;T;T;T;T;T	.|0.71934	.|-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	6.16|6.16	5.02|5.02	0.67125|0.67125	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.151856	.|0.45867	.|D	.|0.000328	D|D	0.87822|0.87822	0.6274|0.6274	H|H	0.95187|0.95187	3.635|3.635	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;1.0;0.999;1.0	D|D	0.89768|0.89768	0.3952|0.3952	5|10	.|0.87932	.|D	.|0	.|.	11.262|11.262	0.49089|0.49089	0.8634:0.0:0.0:0.1366|0.8634:0.0:0.0:0.1366	.|.	.|127;127;127;127	.|Q14UF4;P08174-2;P08174;B1AP13	.|.;.;DAF_HUMAN;.	V|C	137|127	.|ENSP00000356031:Y127C;ENSP00000356030:Y127C;ENSP00000316333:Y127C;ENSP00000356032:Y127C;ENSP00000375787:Y127C;ENSP00000356029:Y127C	.|ENSP00000316333:Y127C	M|Y	+|+	1|2	0|0	CD55|CD55	205564620|205564620	0.982000|0.982000	0.34865|0.34865	0.678000|0.678000	0.29963|0.29963	0.017000|0.017000	0.09413|0.09413	2.438000|2.438000	0.44837|0.44837	1.114000|1.114000	0.41781|0.41781	0.528000|0.528000	0.53228|0.53228	ATG|TAT		TCGA-IB-7651-01A-11D-2154-08	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	1	0	1	95	357	0	71	1	1	326	934	0	71	2		0	0	0	0	0	2	1	1	92	352	0	71	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CR2	1380	broad.mit.edu	37	1	207643069	207643069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643069C>T	ENST00000367058.3	+	6	1036	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000367057.3_Missense_Mutation_p.L283F|CR2_ENST00000367059.3_Missense_Mutation_p.L283F|CR2_ENST00000485707.1_3'UTR	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2			69					TCCCCCTATTCTCAATGGAAG	0.428000																								0							SO:0001583	missense			ENST00000367058.3	1	1	hg19	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287663	0.23478	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.05	1.86	0.25419	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71995	0.3406	M	0.65975	2.015	0.09310	N	1	D;D;D	0.63046	0.992;0.98;0.991	P;D;P	0.64410	0.905;0.925;0.894	T	0.58358	-0.7650	9	0.54805	T	0.06	.	8.1256	0.30997	0.1649:0.4727:0.3624:0.0	.	283;283;283	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	F	283	ENSP00000356025:L283F;ENSP00000356024:L283F;ENSP00000356026:L283F;ENSP00000404222:L283F	ENSP00000356024:L283F	L	+	1	0	CR2	205709692	0.022000	0.18835	0.413000	0.26509	0.370000	0.29829	-0.007000	0.12810	0.780000	0.33566	-0.321000	0.08615	CTC		TCGA-IB-7651-01A-11D-2154-08	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	1	0	1	75	407	0	90	0	2.472516e-02	0	2	0	90	2		0	0	0	0	0	2	1	1	73	396	0	90	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CR2	1380	broad.mit.edu	37	1	207643379	207643379	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643379A>G	ENST00000367058.3	+	6	1346	c.1157A>G	c.(1156-1158)aAg>aGg	p.K386R	CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367057.3_Missense_Mutation_p.K386R|CR2_ENST00000367059.3_Missense_Mutation_p.K386R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2			69					TTCACCTTGAAGGGCAGCAAG	0.493000																								0							SO:0001583	missense			ENST00000367058.3	1	1	hg19	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.051888	0.55218	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.09	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52191	0.1719	L	0.33339	1.005	0.44359	D	0.997251	P;P;B	0.45634	0.863;0.522;0.296	P;B;B	0.45712	0.491;0.38;0.259	T	0.45775	-0.9238	9	0.11794	T	0.64	.	11.8312	0.52297	1.0:0.0:0.0:0.0	.	386;386;386	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	386	ENSP00000356025:K386R;ENSP00000356024:K386R;ENSP00000356026:K386R;ENSP00000404222:K386R	ENSP00000356024:K386R	K	+	2	0	CR2	205710002	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	1.476000	0.35420	2.225000	0.72522	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	1	0	1	81	242	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	1	80	239	0	59	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CR2	1380	broad.mit.edu	37	1	207648341	207648341	+	Silent	SNP	C	C	T	rs139322251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207648341C>T	ENST00000367058.3	+	13	2508	c.2319C>T	c.(2317-2319)agC>agT	p.S773S	CR2_ENST00000458541.2_Silent_p.S746S|CR2_ENST00000367057.3_Silent_p.S832S|CR2_ENST00000367059.3_Silent_p.S773S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	p.S832S(1)		69					GATCTTGGAGCGGGCCTTCCC	0.443000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000367058.3	1	1	hg19	CCDS1478.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	1	0	1	159	445	0	104	1	2.858884e-01	2	2	0	104	2		0	0	0	0	0	2	1	1	155	435	0	103	2								-7.260775	1	1	121408	9	45	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CR1	1378	broad.mit.edu	37	1	207669657	207669657	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207669657G>A	ENST00000367049.4	+	1	45	c.45G>A	c.(43-45)ccG>ccA	p.P15P	CR1_ENST00000367051.1_Silent_p.P15P|CR1_ENST00000367052.1_Silent_p.P15P|CR1_ENST00000367053.1_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.P15P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)			82					TCGGGCCGCCGGCGCCCGGTC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000367049.4	0	1	hg19	CCDS44308.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	0	0	10	306	0	40	0	1.301236e-03	0	2	0	40	2		0	0	0	0	0	2	1	9.966410e-01	10	299	0	36	2								-10.646730	1	1	120662	6	35	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.470000	0.220000	1.000000	0.410000	0.570126	0.470000	0	3.300000e-01	1
CR1	1378	broad.mit.edu	37	1	207696994	207696994	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207696994G>A	ENST00000367049.4	+	5	526	c.526G>A	c.(526-528)Gat>Aat	p.D176N	CR1_ENST00000367051.1_Intron|CR1_ENST00000367052.1_Missense_Mutation_p.D176N|CR1_ENST00000367053.1_Missense_Mutation_p.D176N|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.D176N	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)			82					CACCAATGGAGATTTCATTAG	0.448000																								0							SO:0001583	missense			ENST00000367049.4	0	1	hg19	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245631	0.22796	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.16	-3.25	0.05079	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.25938	0.0632	L	0.54863	1.705	0.09310	N	1	B;D;B;B;B	0.65815	0.005;0.995;0.209;0.005;0.012	B;D;B;B;B	0.65987	0.01;0.94;0.255;0.01;0.01	T	0.24977	-1.0145	9	0.18276	T	0.48	.	0.2928	0.00261	0.2781:0.1416:0.292:0.2883	.	626;176;151;176;176	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	N	176	ENSP00000356019:D176N;ENSP00000356020:D176N;ENSP00000383744:D176N;ENSP00000436139:D176N;ENSP00000356016:D176N	ENSP00000356016:D176N	D	+	1	0	CR1	205763617	0.000000	0.05858	0.023000	0.16930	0.033000	0.12548	-1.635000	0.02018	-0.458000	0.07023	0.461000	0.40582	GAT		TCGA-IB-7651-01A-11D-2154-08	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	0	0	11	342	0	57	0	1.140565e-02	0	5	0	57	2		0	0	0	0	0	2	1	9.975599e-01	9	318	0	60	2								-11.223920	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.460000	0.230000	1.000000	0.410000	0.562559	0.460000	0	3.200000e-01	1
CR1L	1379	broad.mit.edu	37	1	207850896	207850896	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207850896C>A	ENST00000508064.2	+	2	320	c.260C>A	c.(259-261)gCt>gAt	p.A87D	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like			22					TGGACAAGTGCTAAGGACAAG	0.418000																								0							SO:0001583	missense			ENST00000508064.2	1	1	hg19	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123116	0.37436	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.64803	-0.12	2.55	-0.926	0.10455	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.68118	0.2966	M	0.70595	2.14	0.09310	N	1	D	0.53462	0.96	D	0.66196	0.942	T	0.58399	-0.7643	9	0.12430	T	0.62	.	5.3964	0.16271	0.0:0.4516:0.0:0.5484	.	87	Q2VPA4	CR1L_HUMAN	D	87	ENSP00000421736:A87D	ENSP00000434864:A31D	A	+	2	0	CR1L	205917519	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.768000	0.04715	-0.217000	0.10033	0.400000	0.26472	GCT		TCGA-IB-7651-01A-11D-2154-08	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	0	0	0	23	768	0	143	0	9.529225e-04	0	2	0	143	2		0	0	0	0	0	2	1	9.999992e-01	23	757	0	142	2								-3.068407	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.410000	0.250000	1.000000	0.380000	0.528423	0.410000	0	3.200000e-01	1
CR1L	1379	broad.mit.edu	37	1	207881576	207881576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207881576C>T	ENST00000508064.2	+	10	1442	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like			22					GGCAATACTGCCCATTGGAGC	0.433000																								0							SO:0001583	missense			ENST00000508064.2	1	1	hg19	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	7.273	0.607529	0.14002	.	.	ENSG00000197721	ENST00000508064	T	0.65364	-0.15	1.67	0.527	0.17084	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.23886	0.0578	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	9	0.39692	T	0.17	.	3.1841	0.06594	0.0:0.2671:0.0:0.7329	.	461	Q2VPA4	CR1L_HUMAN	V	461	ENSP00000421736:A461V	ENSP00000421736:A461V	A	+	2	0	CR1L	205948199	0.001000	0.12720	0.003000	0.11579	0.054000	0.15201	-0.045000	0.12003	0.140000	0.18849	0.298000	0.19748	GCC		TCGA-IB-7651-01A-11D-2154-08	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	0	0	0	29	670	1	175		0	0	0	1	175	2		0	0	0	0	0	2	1	9.865981e-01	28	651	1	174	15								-3.818725	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.580000	0.370000	1.000000	0.540000	0.654791	0.580000	0	4.600000e-01	1
CR1L	1379	broad.mit.edu	37	1	207891028	207891028	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207891028T>G	ENST00000508064.2	+	11	1694	c.1634T>G	c.(1633-1635)gTt>gGt	p.V545G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like			22					GAACTTCCTGTTGGTGCTGGT	0.488000																								0							SO:0001583	missense			ENST00000508064.2	0	1	hg19	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	T	6.211	0.407155	0.11754	.	.	ENSG00000197721	ENST00000508064	T	0.35236	1.32	2.69	-4.61	0.03380	.	.	.	.	.	T	0.12433	0.0302	N	0.04636	-0.2	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	9	0.15499	T	0.54	.	5.2491	0.15512	0.0:0.4568:0.242:0.3012	.	545	Q2VPA4	CR1L_HUMAN	G	545	ENSP00000421736:V545G	ENSP00000421736:V545G	V	+	2	0	CR1L	205957651	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.570000	0.05895	-0.593000	0.05844	-0.756000	0.03474	GTT		TCGA-IB-7651-01A-11D-2154-08	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	0	0	0	10	581	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	9.965836e-01	10	569	0	103	2								-3.333016	1	1	120914	1	31	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.250000	0.110000	1.000000	0.230000	0.409845	0.250000	0	1.700000e-01	1
CD46	4179	broad.mit.edu	37	1	207943701	207943701	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207943701T>C	ENST00000358170.2	+	9	1138	c.982T>C	c.(982-984)Tat>Cat	p.Y328H	CD46_ENST00000322918.5_Missense_Mutation_p.Y298H|CD46_ENST00000361067.1_Intron|CD46_ENST00000367042.1_Missense_Mutation_p.Y313H|CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000480003.1_Intron|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|CD46_ENST00000360212.2_Intron|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein			19					AGTCTCAAATTATCCAGGTTG	0.313000																								0							SO:0001583	missense			ENST00000358170.2	1	1	hg19	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	7.715	0.696002	0.15106	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839	T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	3.44	-5.85	0.02311	.	1.535010	0.04251	N	0.338652	T	0.52741	0.1753	L	0.32530	0.975	0.09310	N	1	P;B;B;D;D;D;B;D	0.89917	0.936;0.42;0.184;1.0;0.997;0.965;0.184;0.995	P;B;B;D;D;P;B;D	0.74674	0.512;0.098;0.057;0.984;0.944;0.563;0.057;0.969	T	0.52888	-0.8515	10	0.17369	T	0.5	.	5.7131	0.17945	0.0:0.4127:0.3143:0.273	.	298;313;298;328;313;298;313;328	P15529-4;P15529-3;P15529-12;P15529-2;P15529-11;P15529-9;P15529-8;P15529	.;.;.;.;.;.;.;MCP_HUMAN	H	328;313;298;313;298;298;328;265;313	ENSP00000350893:Y328H;ENSP00000346912:Y313H;ENSP00000314664:Y298H;ENSP00000356009:Y313H;ENSP00000356008:Y298H;ENSP00000350346:Y298H;ENSP00000313875:Y328H;ENSP00000356014:Y265H;ENSP00000413543:Y313H	ENSP00000313875:Y328H	Y	+	1	0	CD46	206010324	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-1.745000	0.01831	-1.274000	0.02421	0.402000	0.26972	TAT		TCGA-IB-7651-01A-11D-2154-08	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	0	0	0	21	520	0	48	1	1	101	1661	0	48	2		0	0	0	0	0	2	1	9.999970e-01	22	508	0	48	2								-19.738670	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.550000	0.330000	1.000000	0.500000	0.631255	0.550000	0	4.200000e-01	1
CD34	947	broad.mit.edu	37	1	208062870	208062870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208062870G>A	ENST00000310833.7	-	5	1015	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	CD34_ENST00000356522.4_Missense_Mutation_p.L232F|CD34_ENST00000537704.1_Missense_Mutation_p.L97F|CD34_ENST00000367036.3_Missense_Mutation_p.L74F|CD34_ENST00000485761.1_5'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule			13					TGGGCAAGGAGCAGGGAGCAT	0.617000																								0							SO:0001583	missense			ENST00000310833.7	0	1	hg19	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269298	0.59540	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.38	3.32	0.38043	.	0.574499	0.17561	N	0.169820	T	0.43634	0.1256	M	0.63428	1.95	0.27559	N	0.950238	D;D;D;D	0.76494	0.999;0.999;0.997;0.997	D;D;D;D	0.70487	0.969;0.956;0.935;0.952	T	0.16988	-1.0384	10	0.46703	T	0.11	-3.214	9.9748	0.41777	0.0:0.0:0.5552:0.4448	.	97;232;232;74	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	F	232;232;74;97;202	ENSP00000310036:L232F;ENSP00000348916:L232F;ENSP00000356003:L74F;ENSP00000442874:L97F	ENSP00000310036:L232F	L	-	1	0	CD34	206129493	0.907000	0.30839	0.849000	0.33467	0.742000	0.42306	0.784000	0.26816	1.243000	0.43853	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	0	0	0	5	183	0	47	0	7.665175e-01	0	101	0	47	2		0	0	0	0	0	2	1	9.357216e-01	5	180	0	47	2								-7.278883	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.440000	0.150000	1.000000	0.340000	0.537684	0.440000	0	2.600000e-01	1
PLXNA2	5362	broad.mit.edu	37	1	208213029	208213029	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208213029G>A	ENST00000367033.3	-	24	5194	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2			80					AGCGGGCCTCGCCCGTGATGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000367033.3	1	0	hg19	CCDS31013.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1	136	367	1	90	1	9.994325e-01	10	37	1	90	4		0	0	0	0	0	2	1	1	135	361	1	90	19								-3.221889	1	1	121412	43	49	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA2	5362	broad.mit.edu	37	1	208217871	208217871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208217871C>T	ENST00000367033.3	-	20	4613	c.3856G>A	c.(3856-3858)Gcc>Acc	p.A1286T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2			80					CACTCCAAGGCCACACGGGAC	0.527000																								0							SO:0001583	missense			ENST00000367033.3	1	1	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557458	0.86231	.	.	ENSG00000076356	ENST00000367033	T	0.01034	5.42	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02333	-1.1175	10	0.66056	D	0.02	.	18.2148	0.89881	0.0:1.0:0.0:0.0	.	1286	O75051	PLXA2_HUMAN	T	1286	ENSP00000356000:A1286T	ENSP00000356000:A1286T	A	-	1	0	PLXNA2	206284494	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.538000	0.82048	2.281000	0.76405	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1	58	208	0	61	1	9.938984e-01	11	20	0	61	2		0	0	0	0	0	2	1	1	58	204	0	61	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA2	5362	broad.mit.edu	37	1	208224623	208224623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208224623C>T	ENST00000367033.3	-	16	3896	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2			80					CACTCTGGCTCGATGCGCTGG	0.597000																								0							SO:0001583	missense			ENST00000367033.3	1	1	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604567	0.87157	.	.	ENSG00000076356	ENST00000367033	T	0.77489	-1.1	5.09	5.09	0.68999	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.048539	0.85682	D	0.000000	T	0.80265	0.4591	L	0.56396	1.775	0.80722	D	1	D	0.59767	0.986	P	0.51742	0.678	T	0.76429	-0.2962	10	0.12766	T	0.61	.	18.5087	0.90907	0.0:1.0:0.0:0.0	.	1047	O75051	PLXA2_HUMAN	K	1047	ENSP00000356000:E1047K	ENSP00000356000:E1047K	E	-	1	0	PLXNA2	206291246	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	7.485000	0.81204	2.363000	0.80096	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1	45	265	0	60	1	9.744905e-01	9	28	0	60	2		0	0	0	0	0	2	1	1	43	258	0	59	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PLXNA2	5362	broad.mit.edu	37	1	208257763	208257763	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208257763G>A	ENST00000367033.3	-	10	3017	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2			80					CTGTTGAAGCGCAGAGCGGGG	0.622000																								0							SO:0001583	missense			ENST00000367033.3	1	1	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856472	0.91355	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.01025	5.43	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.01087	-1.1456	10	0.56958	D	0.05	.	19.8253	0.96616	0.0:0.0:1.0:0.0	.	754	O75051	PLXA2_HUMAN	C	754	ENSP00000356000:R754C	ENSP00000356000:R754C	R	-	1	0	PLXNA2	206324386	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.527000	0.81931	2.676000	0.91093	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1	127	372	0	104	1	9.999862e-01	11	39	0	104	2		0	0	0	0	0	2	1	1	124	362	0	104	2								-20.000000	1	1	121412	1	35	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA2	5362	broad.mit.edu	37	1	208266196	208266196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208266196G>A	ENST00000367033.3	-	9	2789	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2			80					CAGAGGTTGCGGTACTTGCAC	0.547000																								0							SO:0001583	missense			ENST00000367033.3	1	1	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971966	0.92919	.	.	ENSG00000076356	ENST00000367033	T	0.18502	2.21	5.86	5.86	0.93980	.	0.047707	0.85682	D	0.000000	T	0.51227	0.1662	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55528	-0.8127	10	0.72032	D	0.01	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	678	O75051	PLXA2_HUMAN	C	678	ENSP00000356000:R678C	ENSP00000356000:R678C	R	-	1	0	PLXNA2	206332819	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.249000	0.72427	2.778000	0.95560	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1	30	223	0	44	1	9.756742e-01	11	36	0	44	2		0	0	0	0	0	2	1	1	29	216	0	44	2								-2.744929	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999577	0.990000	1	9.900000e-01	1
PLXNA2	5362	broad.mit.edu	37	1	208383704	208383704	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208383704C>T	ENST00000367033.3	-	3	2049	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2			80					AGAGGTCATGCGGTCCCTGCT	0.542000																								0							SO:0001583	missense			ENST00000367033.3	1	1	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254088	0.80135	.	.	ENSG00000076356	ENST00000367033	T	0.12672	2.66	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.998;1.0	P;P	0.62491	0.814;0.903	T	0.01390	-1.1367	10	0.21014	T	0.42	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	485;431	O75051-2;O75051	.;PLXA2_HUMAN	H	431	ENSP00000356000:R431H	ENSP00000356000:R431H	R	-	2	0	PLXNA2	206450327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.817000	0.69229	2.652000	0.90054	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1	40	183	0	39	0	9.310656e-01	1	22	0	39	2		0	0	0	0	0	2	1	1	39	179	0	39	2								-2.893248	1	1	121412	1	26	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA2	5362	broad.mit.edu	37	1	208390732	208390732	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208390732T>A	ENST00000367033.3	-	2	1293	c.536A>T	c.(535-537)gAt>gTt	p.D179V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2			80					GAGCTTGCCATCCTCACCCTC	0.592000																								0							SO:0001583	missense			ENST00000367033.3	1	1	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	7.667	0.686145	0.14973	.	.	ENSG00000076356	ENST00000367033	T	0.04234	3.67	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	.	.	.	.	T	0.08802	0.0218	L	0.59436	1.845	0.80722	D	1	P;B	0.40282	0.711;0.209	B;B	0.39379	0.298;0.109	T	0.03662	-1.1015	9	0.54805	T	0.06	.	15.9771	0.80076	0.0:0.0:0.0:1.0	.	233;179	O75051-2;O75051	.;PLXA2_HUMAN	V	179	ENSP00000356000:D179V	ENSP00000356000:D179V	D	-	2	0	PLXNA2	206457355	1.000000	0.71417	0.532000	0.27989	0.096000	0.18686	7.751000	0.85126	2.178000	0.69098	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1	356	748	0	179	1	9.999989e-01	7	37	0	179	2		0	0	0	0	0	2	1	1	348	740	0	177	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAMK1G	57172	broad.mit.edu	37	1	209783265	209783265	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209783265G>T	ENST00000009105.1	+	9	1063	c.818G>T	c.(817-819)aGt>aTt	p.S273I	CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG			20					AAGGCCTTGAGTCATCCCTGG	0.498000													Ovarian(163;530 1939 9680 28669 48710)											0							SO:0001583	missense			ENST00000009105.1	1	1	hg19	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620103	0.46736	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.66460	-0.21;-0.21	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.195621	0.36101	N	0.002785	T	0.64011	0.2560	M	0.67625	2.065	0.26610	N	0.972854	B;B	0.12630	0.006;0.002	B;B	0.11329	0.006;0.006	T	0.60850	-0.7181	10	0.62326	D	0.03	.	11.7699	0.51951	0.0818:0.0:0.9182:0.0	.	273;273	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	I	273	ENSP00000009105:S273I;ENSP00000354861:S273I	ENSP00000009105:S273I	S	+	2	0	CAMK1G	207849888	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.297000	0.43593	2.383000	0.81215	0.313000	0.20887	AGT		TCGA-IB-7651-01A-11D-2154-08	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	1	0	1	49	232	0	58	0	8.446876e-01	0	18	0	58	2		0	0	0	0	0	2	1	1	49	222	0	58	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB3	3914	broad.mit.edu	37	1	209796389	209796389	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209796389C>A	ENST00000356082.4	-	17	2628	c.2494G>T	c.(2494-2496)Gcg>Tcg	p.A832S	LAMB3_ENST00000391911.1_Missense_Mutation_p.A832S|LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3			45					ACCTGCCCCGCCATCAAGAAG	0.652000																								0							SO:0001583	missense			ENST00000356082.4	1	1	hg19	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303492	0.40795	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.49139	0.79;0.79;0.79	5.21	4.28	0.50868	.	0.115379	0.64402	D	0.000019	T	0.57417	0.2052	M	0.77616	2.38	0.21841	N	0.999519	D	0.58620	0.983	P	0.53313	0.723	T	0.54139	-0.8338	10	0.52906	T	0.07	.	8.3981	0.32570	0.1556:0.7661:0.0:0.0783	.	832	Q13751	LAMB3_HUMAN	S	832	ENSP00000375778:A832S;ENSP00000348384:A832S;ENSP00000355997:A832S	ENSP00000348384:A832S	A	-	1	0	LAMB3	207863012	0.973000	0.33851	0.045000	0.18777	0.218000	0.24690	2.419000	0.44671	1.193000	0.43086	0.456000	0.33151	GCG		TCGA-IB-7651-01A-11D-2154-08	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	1	0	1	77	821	0	131	1	1	194	765	0	131	2		0	0	0	0	0	2	1	1	76	785	0	123	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.900000	1.000000	1.000000	0.993342	0.990000	1	9.900000e-01	1
DDOST	1650	broad.mit.edu	37	1	20987419	20987419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20987419C>A	ENST00000375048.3	-	2	376	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*|DDOST_ENST00000415136.2_Intron	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)			13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			TAGAGGAATTCCCCATACTTT	0.512000																								0							SO:0001587	stop_gained			ENST00000375048.3	0	1	hg19	CCDS212.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559908	0.97663	.	.	ENSG00000244038	ENST00000375048	.	.	.	5.1	5.1	0.69264	.	0.053951	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-34.5713	18.9259	0.92544	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000364188:E91X	E	-	1	0	DDOST	20860006	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.056000	0.71111	2.547000	0.85894	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	1	0	0	16	187	0	50	1	1	2	760	0	50	2		0	0	0	0	0	2	1	9.999232e-01	16	179	0	50	2								-3.318865	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.780000	0.490000	0.990000	0.810000	0.776114	0.780000	0	6.200000e-01	9.200000e-01
HSD11B1	3290	broad.mit.edu	37	1	209879197	209879197	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209879197A>G	ENST00000367028.2	+	3	299	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E|HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1			16				Prednisone(DB00635)	AGGGGCCAGCAAAGGGATCGG	0.507000																								0							SO:0001583	missense			ENST00000367028.2	1	1	hg19	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633986	0.47049	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	T;T;T	0.51574	0.7;0.7;0.7	3.95	3.95	0.45737	NAD(P)-binding domain (1);	0.312885	0.31834	N	0.006993	T	0.31482	0.0798	N	0.25957	0.775	0.35651	D	0.811754	B	0.33583	0.418	B	0.30105	0.111	T	0.46978	-0.9152	10	0.59425	D	0.04	.	9.0331	0.36271	0.8352:0.0:0.0:0.1647	.	44	P28845	DHI1_HUMAN	E	44	ENSP00000355995:K44E;ENSP00000261465:K44E;ENSP00000355994:K44E	ENSP00000261465:K44E	K	+	1	0	HSD11B1	207945820	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.909000	0.63314	1.746000	0.51805	0.363000	0.22086	AAA		TCGA-IB-7651-01A-11D-2154-08	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	1	0	1	117	272	0	88	0	1	0	156	0	88	2		0	0	0	0	0	2	1	1	113	271	0	88	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAF3IP3	80342	broad.mit.edu	37	1	209935961	209935961	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209935961T>G	ENST00000367024.1	+	4	963	c.447T>G	c.(445-447)ctT>ctG	p.L149L	TRAF3IP3_ENST00000010338.4_Silent_p.L129L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L|TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000367025.3_Silent_p.L149L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3			32					CTGGGGGCCTTCCTCCACAGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000367024.1	1	1	hg19	CCDS1490.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2	1	0	1	63	303	0	72	0	9.210078e-01	0	23	0	72	2		0	0	0	0	0	2	1	1	62	292	0	70	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf74	148304	broad.mit.edu	37	1	209956186	209956186	+	Missense_Mutation	SNP	G	G	A	rs150951869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956186G>A	ENST00000294811.1	-	2	1050	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74			15					GGCCACAGCCGGCAGTGTGAC	0.468000																								0							SO:0001583	missense			ENST00000294811.1	1	1	hg19	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930427	0.52866	0.0	1.16E-4	ENSG00000162757	ENST00000294811	T	0.47528	0.84	5.75	3.65	0.41850	.	0.196250	0.45126	N	0.000382	T	0.44052	0.1275	M	0.65498	2.005	0.80722	D	1	P	0.35192	0.489	B	0.31946	0.138	T	0.42085	-0.9472	10	0.72032	D	0.01	-10.2285	10.4299	0.44400	0.0741:0.0:0.7951:0.1308	.	265	Q96LT6	CA074_HUMAN	L	265	ENSP00000294811:P265L	ENSP00000294811:P265L	P	-	2	0	C1orf74	208022809	1.000000	0.71417	0.014000	0.15608	0.987000	0.75469	5.814000	0.69208	0.618000	0.30179	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	1	0	1	118	557	0	143	1	8.675184e-01	8	11	0	143	2		0	0	0	0	0	2	1	1	117	541	0	142	2								-3.041132	1	0	121412	2	32	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf74	148304	broad.mit.edu	37	1	209956266	209956266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956266C>A	ENST00000294811.1	-	2	970	c.714G>T	c.(712-714)tgG>tgT	p.W238C		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74			15					GGTCCTTCTCCCAGGTGTTTA	0.512000																								0							SO:0001583	missense			ENST00000294811.1	1	1	hg19	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246145	0.80024	.	.	ENSG00000162757	ENST00000294811	T	0.65178	-0.14	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80243	-0.1463	10	0.87932	D	0	-48.2684	19.9376	0.97146	0.0:1.0:0.0:0.0	.	238	Q96LT6	CA074_HUMAN	C	238	ENSP00000294811:W238C	ENSP00000294811:W238C	W	-	3	0	C1orf74	208022889	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.960000	0.76036	2.711000	0.92665	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	1	0	1	84	463	0	84	1	9.543437e-01	10	20	0	84	2		0	0	0	0	0	2	1	1	82	458	0	84	2								-2.776000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf74	148304	broad.mit.edu	37	1	209956447	209956447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956447C>T	ENST00000294811.1	-	2	789	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74			15					AACAGGATAGCCCAGGAGGAT	0.507000																								0							SO:0001583	missense			ENST00000294811.1	1	1	hg19	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131307	0.77549	.	.	ENSG00000162757	ENST00000294811	T	0.57752	0.38	5.27	5.27	0.74061	.	0.120074	0.56097	D	0.000026	T	0.70631	0.3246	M	0.75264	2.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73260	-0.4039	10	0.62326	D	0.03	-20.993	12.2654	0.54674	0.0:0.922:0.0:0.078	.	178	Q96LT6	CA074_HUMAN	D	178	ENSP00000294811:G178D	ENSP00000294811:G178D	G	-	2	0	C1orf74	208023070	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.448000	0.66612	2.460000	0.83146	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	1	0	1	135	447	0	112	1	9.622651e-01	11	9	0	112	2		0	0	0	0	0	2	1	1	133	439	0	112	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF6	3664	broad.mit.edu	37	1	209963840	209963840	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963840C>T	ENST00000367021.3	-	7	1232	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	IRF6_ENST00000542854.1_Splice_Site_p.D259N|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6			28					AATGACTTACCGCTAAGGAAT	0.473000										HNSCC(57;0.16)														0							SO:0001630	splice_region_variant			ENST00000367021.3	1	0	hg19	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922566	0.52653	0.0	4.65E-4	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94966	-3.57;-3.57	5.75	5.75	0.90469	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.407669	0.31461	N	0.007618	D	0.90943	0.7153	L	0.35542	1.07	0.58432	D	0.999995	B	0.31910	0.346	B	0.29663	0.105	D	0.88126	0.2835	9	.	.	.	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	354	O14896	IRF6_HUMAN	N	354;259	ENSP00000355988:D354N;ENSP00000440532:D259N	.	D	-	1	0	IRF6	208030463	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	7.311000	0.78958	2.716000	0.92895	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	0	0	1	68	217	0	50	1	1	5	115	0	50	2		0	0	0	0	0	2	1	1	67	212	0	48	2								-2.771646	1	1	121412	37	46	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF6	3664	broad.mit.edu	37	1	209963951	209963951	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963951A>G	ENST00000367021.3	-	7	1121	c.949T>C	c.(949-951)Tgc>Cgc	p.C317R	IRF6_ENST00000542854.1_Missense_Mutation_p.C222R|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6			28					TTGCACTGGCACAGCCTGATG	0.512000										HNSCC(57;0.16)														0							SO:0001583	missense			ENST00000367021.3	1	1	hg19	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002788	0.74932	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95788	-3.81;-3.81	6.17	5.02	0.67125	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.040056	0.85682	D	0.000000	D	0.97614	0.9218	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97507	1.0064	9	.	.	.	.	12.7001	0.57026	0.8765:0.0:0.0:0.1235	.	317	O14896	IRF6_HUMAN	R	317;222	ENSP00000355988:C317R;ENSP00000440532:C222R	.	C	-	1	0	IRF6	208030574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.747000	0.91610	1.097000	0.41459	0.533000	0.62120	TGC		TCGA-IB-7651-01A-11D-2154-08	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	1	0	1	57	273	0	62	1	9.999991e-01	76	25	0	62	2		0	0	0	0	0	2	1	1	57	268	0	62	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF6	3664	broad.mit.edu	37	1	209965773	209965773	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209965773C>T	ENST00000367021.3	-	6	681		c.e6-1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	p.?(2)		28					ATGGGAGAACCTAAAACAAAA	0.537000										HNSCC(57;0.16)														2	Unknown(2)						SO:0001630	splice_region_variant			ENST00000367021.3	1	1	hg19	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001223	0.74818	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRF6	208032396	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.218000	0.72224	2.654000	0.90174	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	1	0	1	46	183	0	44	0	1.085820e-01	1	2	0	44	2		0	0	0	0	0	2	1	1	45	177	0	43	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF6	3664	broad.mit.edu	37	1	209969826	209969826	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209969826C>G	ENST00000367021.3	-	4	418	c.246G>C	c.(244-246)caG>caC	p.Q82H	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6			28					CACAGCGCAGCTGGGCCTTCC	0.512000										HNSCC(57;0.16)														0							SO:0001583	missense			ENST00000367021.3	1	1	hg19	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743250	0.69418	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97752	-4.52;-4.52	5.63	3.53	0.40419	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.052631	0.85682	D	0.000000	D	0.97161	0.9072	L	0.36672	1.1	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.95928	0.8936	9	.	.	.	.	11.3709	0.49699	0.0:0.808:0.0:0.192	.	82	O14896	IRF6_HUMAN	H	82	ENSP00000355988:Q82H;ENSP00000403855:Q82H	.	Q	-	3	2	IRF6	208036449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.908000	0.48750	1.375000	0.46248	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	1	0	1	66	194	0	51	1	1	9	112	0	51	2		0	0	0	0	0	2	1	1	64	191	0	49	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF17	57576	broad.mit.edu	37	1	21014359	21014359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21014359G>A	ENST00000247986.2	-	8	1770	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	KIF17_ENST00000400463.3_Missense_Mutation_p.P487L|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.P387L			Q9P2E2	KIF17_HUMAN	kinesin family member 17			50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			AAAAGCAGGCGGGTACTCAGC	0.547000																								0							SO:0001583	missense			ENST00000247986.2	1	1	hg19	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	6.424	0.446381	0.12223	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.69806	-0.43;-0.32;-0.33	4.93	-0.286	0.12862	.	1.577840	0.04772	U	0.428171	T	0.42040	0.1185	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20438	-1.0275	10	0.21540	T	0.41	.	4.1203	0.10103	0.3776:0.1698:0.4526:0.0	.	487;487	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	387;487;487	ENSP00000364184:P387L;ENSP00000383311:P487L;ENSP00000247986:P487L	ENSP00000247986:P487L	P	-	2	0	KIF17	20886946	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	0.213000	0.17521	0.290000	0.22444	0.491000	0.48974	CCG		TCGA-IB-7651-01A-11D-2154-08	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	0	0	0	14	406	0	131	0	7.642553e-03	0	4	0	131	2		0	0	0	0	0	2	1	9.997294e-01	14	398	0	130	2								-2.456317	0	1	121398	3	35	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.360000	0.200000	0.560000	0.350000	0.373754	0.360000	0	2.700000e-01	4.600000e-01
SYT14	255928	broad.mit.edu	37	1	210273403	210273403	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210273403A>C	ENST00000472886.1	+	6	775	c.761A>C	c.(760-762)gAt>gCt	p.D254A	SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000537238.1_Missense_Mutation_p.D216A|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.D254A|SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000367015.1_Missense_Mutation_p.D216A			Q8NB59	SYT14_HUMAN	synaptotagmin XIV			37					AAACCTTTTGATCCTGAGCCA	0.383000																								0							SO:0001583	missense			ENST00000472886.1	1	1	hg19	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02	5.88	3.53	0.40419	C2 calcium/lipid-binding domain, CaLB (1);	0.207325	0.49305	D	0.000159	T	0.08403	0.0209	N	0.19112	0.55	0.52501	D	0.999958	B;B;P;B	0.49961	0.035;0.013;0.93;0.059	B;B;P;B	0.50440	0.017;0.01;0.641;0.039	T	0.32481	-0.9905	10	0.40728	T	0.16	-13.0195	7.8436	0.29412	0.809:0.0:0.067:0.124	.	282;254;254;299	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	299;254;254;216;254;254;216	ENSP00000389039:D299A;ENSP00000442891:D254A;ENSP00000445837:D254A;ENSP00000437423:D216A;ENSP00000355986:D254A;ENSP00000418901:D254A;ENSP00000355982:D216A	ENSP00000355982:D216A	D	+	2	0	SYT14	208340026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.569000	0.67391	0.457000	0.26962	0.477000	0.44152	GAT		TCGA-IB-7651-01A-11D-2154-08	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	1	0	1	69	221	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	69	218	0	40	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF17	57576	broad.mit.edu	37	1	21031182	21031182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21031182C>T	ENST00000247986.2	-	5	1191	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17			50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			CTGCAGCAGCCGCGTCAGCTT	0.627000																								0							SO:0001583	missense			ENST00000247986.2	1	1	hg19	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010521	0.93346	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.77098	-1.07;-1.07;-1.07	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.000000	0.29638	U	0.011585	D	0.87657	0.6232	M	0.82923	2.615	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.982	D	0.88744	0.3245	10	0.87932	D	0	.	11.3633	0.49657	0.0:0.9066:0.0:0.0934	.	294;294	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	Q	194;294;294	ENSP00000364184:R194Q;ENSP00000383311:R294Q;ENSP00000247986:R294Q	ENSP00000247986:R294Q	R	-	2	0	KIF17	20903769	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	4.925000	0.63425	2.554000	0.86153	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	1	0	1	50	420	0	71	0	6.109972e-02	0	4	0	71	2		0	0	0	0	0	2	1	1	49	410	0	66	2								-3.142702	1	1	121412	1	27	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.940000	0.770000	1.000000	0.990000	0.931108	0.940000	1	8.600000e-01	9.900000e-01
SERTAD4	56256	broad.mit.edu	37	1	210415304	210415304	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415304C>A	ENST00000367012.3	+	4	923	c.693C>A	c.(691-693)tcC>tcA	p.S231S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4			14					cttcctcttcctctccccctT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000367012.3	1	1	hg19	CCDS1494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	1	0	0	118	359	0	63	0	1.550777e-01	0	3	0	63	2		0	0	0	0	0	2	1	1	116	335	0	61	2								-5.598552	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERTAD4	56256	broad.mit.edu	37	1	210415325	210415325	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415325G>A	ENST00000367012.3	+	4	944	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4			14					TGCCTTTACCGAGTTGTTCCC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000367012.3	1	1	hg19	CCDS1494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	1	0	1	70	294	0	48	0	1.716936e-01	1	3	0	48	2		0	0	0	0	0	2	1	1	68	284	0	48	2								-20.000000	1	0	121408	1	30	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERTAD4	56256	broad.mit.edu	37	1	210415340	210415340	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415340G>A	ENST00000367012.3	+	4	959	c.729G>A	c.(727-729)caG>caA	p.Q243Q	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4			14					GTTCCCGCCAGGTGGATTTTG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000367012.3	1	1	hg19	CCDS1494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	1	0	1	62	256	0	43	0	2.569980e-01	1	4	0	43	2		0	0	0	0	0	2	1	1	59	249	0	43	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF17	57576	broad.mit.edu	37	1	21042020	21042020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21042020G>A	ENST00000247986.2	-	2	654	c.344C>T	c.(343-345)cCc>cTc	p.P115L	KIF17_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L			Q9P2E2	KIF17_HUMAN	kinesin family member 17			50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			GAAGGCCCTGGGGATGATGCC	0.652000																								0							SO:0001583	missense			ENST00000247986.2	1	1	hg19	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142515	0.94560	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.74947	-0.89;-0.89;-0.89	4.75	4.75	0.60458	Kinesin, motor domain (4);	0.000000	0.32401	U	0.006150	D	0.89234	0.6657	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91885	0.5519	10	0.87932	D	0	.	16.4866	0.84185	0.0:0.0:1.0:0.0	.	115;115	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	L	15;115;115	ENSP00000364184:P15L;ENSP00000383311:P115L;ENSP00000247986:P115L	ENSP00000247986:P115L	P	-	2	0	KIF17	20914607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.991000	0.93514	2.473000	0.83533	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	1	0	1	50	404	0	87	0	1.272602e-02	1	1	0	87	2		0	0	0	0	0	2	1	1	47	398	0	85	2								-2.540642	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.940000	0.790000	1.000000	0.990000	0.936667	0.940000	1	8.700000e-01	9.900000e-01
HHAT	55733	broad.mit.edu	37	1	210796957	210796957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210796957G>T	ENST00000367010.1	+	11	1560	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	HHAT_ENST00000545781.1_Missense_Mutation_p.V382L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase			27					GTCCAACCTGGTATTTCTTGG	0.483000																								0							SO:0001583	missense			ENST00000367010.1	1	1	hg19	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401967	0.62288	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.46451	2.17;0.87;2.16;2.16;2.13;2.2;2.17;2.2;2.17;0.88	6.06	6.06	0.98353	.	0.065429	0.64402	D	0.000012	T	0.42017	0.1184	L	0.42686	1.345	0.37062	D	0.898122	P;D;P;P;P	0.53745	0.937;0.962;0.894;0.919;0.937	B;P;B;B;B	0.47827	0.239;0.558;0.437;0.327;0.377	T	0.46569	-0.9182	10	0.49607	T	0.09	-28.2492	11.4562	0.50183	0.0812:0.0:0.9188:0.0	.	400;446;308;380;445	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	L	445;308;446;380;445;382;445;400;445;135	ENSP00000416845:V445L;ENSP00000444995:V308L;ENSP00000438468:V446L;ENSP00000442625:V380L;ENSP00000375773:V445L;ENSP00000439229:V382L;ENSP00000261458:V445L;ENSP00000308628:V400L;ENSP00000355977:V445L;ENSP00000355976:V135L	ENSP00000261458:V445L	V	+	1	0	HHAT	208863580	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.638000	0.46562	2.879000	0.98667	0.650000	0.86243	GTA		TCGA-IB-7651-01A-11D-2154-08	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	1	0	1	509	1334	0	311	1	9.997440e-01	9	25	0	311	2		0	0	0	0	0	2	1	1	501	1314	0	307	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH1	3756	broad.mit.edu	37	1	210857251	210857251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210857251C>T	ENST00000271751.4	-	11	2369	c.2342G>A	c.(2341-2343)aGc>aAc	p.S781N	KCNH1_ENST00000367007.4_Missense_Mutation_p.S754N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1			68					CTTCACGAGGCTGTGGTTGGC	0.632000																								0							SO:0001583	missense			ENST00000271751.4	1	1	hg19	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	8.408	0.843422	0.16963	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98996	-5.28;-5.31	4.64	2.65	0.31530	.	0.968284	0.08580	N	0.924690	D	0.95661	0.8589	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.91852	0.5492	10	0.35671	T	0.21	.	5.6062	0.17381	0.0:0.4757:0.3043:0.2201	.	754;781	Q14CL3;O95259	.;KCNH1_HUMAN	N	781;754	ENSP00000271751:S781N;ENSP00000355974:S754N	ENSP00000271751:S781N	S	-	2	0	KCNH1	208923874	0.000000	0.05858	0.119000	0.21687	0.781000	0.44180	0.876000	0.28092	0.933000	0.37291	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	1	0	1	112	273	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	112	270	0	56	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH1	3756	broad.mit.edu	37	1	210971047	210971047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210971047C>A	ENST00000271751.4	-	9	1745	c.1718G>T	c.(1717-1719)cGc>cTc	p.R573L	KCNH1_ENST00000367007.4_Missense_Mutation_p.R546L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1			68					GAACACCTTGCGGTTCAGGTG	0.617000																								0							SO:0001583	missense			ENST00000271751.4	1	1	hg19	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233888	0.95207	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96334	-3.98;-3.98	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.050022	0.85682	D	0.000000	D	0.98040	0.9354	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75020	0.985;0.975	D	0.98880	1.0769	10	0.87932	D	0	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	546;573	Q14CL3;O95259	.;KCNH1_HUMAN	L	573;546	ENSP00000271751:R573L;ENSP00000355974:R546L	ENSP00000271751:R573L	R	-	2	0	KCNH1	209037670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	1	0	1	55	311	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	55	305	0	59	2								-2.924402	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH1	3756	broad.mit.edu	37	1	211280608	211280608	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211280608C>A	ENST00000271751.4	-	2	218	c.191G>T	c.(190-192)aGc>aTc	p.S64I	KCNH1_ENST00000367007.4_Missense_Mutation_p.S64I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1			68					GCAGGTGCTGCTTTTTTGCAT	0.423000																								0							SO:0001583	missense			ENST00000271751.4	1	1	hg19	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703773	0.88924	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99691	-6.42;-6.42	5.62	5.62	0.85841	PAS (3);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.97620	1.0135	10	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	64;64	Q14CL3;O95259	.;KCNH1_HUMAN	I	64	ENSP00000271751:S64I;ENSP00000355974:S64I	ENSP00000271751:S64I	S	-	2	0	KCNH1	209347231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.470000	0.80973	2.634000	0.89283	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	1	0	1	100	470	0	117		0	0	0	0	117	2		0	0	0	0	0	2	1	1	97	460	0	116	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4G3	8672	broad.mit.edu	37	1	21133870	21133870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21133870G>A	ENST00000264211.8	-	31	4894	c.4700C>T	c.(4699-4701)tCt>tTt	p.S1567F	EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S1573F	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3			70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)			TGCCGTGACAGATTTCAGAGC	0.463000																								0							SO:0001583	missense			ENST00000264211.8	1	1	hg19	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505352	0.85282	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.6	5.6	0.85130	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;0.996;0.999;1.0	D	0.93073	0.6484	10	0.87932	D	0	-15.8192	19.6136	0.95619	0.0:0.0:1.0:0.0	.	1762;1287;1171;1573;1567	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	1567;1763;1567;1287;1057;1573;1171	ENSP00000264211:S1567F;ENSP00000383274:S1567F;ENSP00000364071:S1287F;ENSP00000442010:S1057F;ENSP00000364073:S1573F;ENSP00000444693:S1171F	ENSP00000264211:S1567F	S	-	2	0	EIF4G3	21006457	1.000000	0.71417	0.860000	0.33809	0.995000	0.86356	9.835000	0.99442	2.641000	0.89580	0.585000	0.79938	TCT		TCGA-IB-7651-01A-11D-2154-08	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	0	1	196	781	0	176	1	1	23	101	0	176	2		0	0	0	0	0	2	1	1	195	768	0	172	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994682	0.990000	1	9.800000e-01	1
RCOR3	55758	broad.mit.edu	37	1	211449613	211449613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211449613G>A	ENST00000367005.4	+	4	336	c.195G>A	c.(193-195)ttG>ttA	p.L65L	RCOR3_ENST00000419091.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L|RCOR3_ENST00000452621.2_Silent_p.L123L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3			21					TTGGCATGTTGTTCTGGCATA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000367005.4	1	1	hg19	CCDS31016.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	1	0	1	266	779	0	240	1	1	20	55	0	240	2		0	0	0	0	0	2	1	1	259	762	0	240	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAF5	7188	broad.mit.edu	37	1	211545602	211545602	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211545602C>T	ENST00000261464.5	+	11	1286	c.1232C>T	c.(1231-1233)aCa>aTa	p.T411I	TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I|TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I|TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5			29					TGGAAGGTGACAGATTACAAG	0.468000																								0							SO:0001583	missense			ENST00000261464.5	1	1	hg19	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367647	0.42003	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.37584	2.05;1.19;2.05;2.05	5.16	5.16	0.70880	TRAF-type (1);TRAF-like (1);MATH (2);	0.299246	0.36703	N	0.002445	T	0.42607	0.1210	M	0.76170	2.325	0.34214	D	0.674685	P;B;P	0.48294	0.908;0.437;0.698	B;B;B	0.44224	0.436;0.3;0.444	T	0.60525	-0.7246	10	0.39692	T	0.17	-19.4905	13.3653	0.60680	0.0:0.924:0.0:0.076	.	305;422;411	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	I	411;305;411;411	ENSP00000336825:T411I;ENSP00000389891:T305I;ENSP00000261464:T411I;ENSP00000355971:T411I	ENSP00000261464:T411I	T	+	2	0	TRAF5	209612225	0.884000	0.30299	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	2.561000	0.86390	0.650000	0.86243	ACA		TCGA-IB-7651-01A-11D-2154-08	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	1	0	1	271	734	0	188	1	9.999776e-01	3	41	0	188	2		0	0	0	0	0	2	1	1	268	722	0	185	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC30A1	7779	broad.mit.edu	37	1	211749594	211749594	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211749594T>C	ENST00000367001.4	-	2	789	c.660A>G	c.(658-660)gtA>gtG	p.V220V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1			11					CATTCACTTGTACTTCCACTG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000367001.4	1	1	hg19	CCDS1499.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2	1	0	1	62	263	0	48	1	1	37	98	0	48	2		0	0	0	0	0	2	1	1	62	260	0	47	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS7	25896	broad.mit.edu	37	1	212148514	212148514	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212148514G>T	ENST00000366994.3	-	13	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000440600.2_Silent_p.S554S|INTS7_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7			20					TTACTGTTAAGGAAGCAATCC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000366994.3	1	1	hg19	CCDS1501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	1	0	1	52	168	0	53	1	9.998439e-01	15	31	0	53	2		0	0	0	0	0	2	1	1	50	162	0	53	2								-3.957615	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS7	25896	broad.mit.edu	37	1	212151704	212151704	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212151704C>T	ENST00000366994.3	-	11	1484	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000440600.2_Silent_p.L411L|INTS7_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7			20					CCAGCACCGGCAGTTGCATGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000366994.3	1	1	hg19	CCDS1501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	1	0	1	90	521	0	103	1	9.996233e-01	19	48	0	103	2		0	0	0	0	0	2	1	1	89	512	0	103	2								-3.318980	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS7	25896	broad.mit.edu	37	1	212180785	212180785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212180785G>A	ENST00000366994.3	-	6	667	c.563C>T	c.(562-564)gCg>gTg	p.A188V	INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V|INTS7_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7			20					TACTGGTGTCGCTAAACCTAG	0.383000																								0							SO:0001583	missense			ENST00000366994.3	1	1	hg19	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068795	0.55539	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.148508	0.64402	D	0.000012	T	0.35128	0.0921	L	0.43923	1.385	0.54753	D	0.99998	P;P;P;P	0.50443	0.935;0.935;0.935;0.935	P;P;P;P	0.44772	0.46;0.46;0.46;0.46	T	0.01460	-1.1349	10	0.37606	T	0.19	-9.9486	20.5792	0.99380	0.0:0.0:1.0:0.0	.	139;188;188;188	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	V	188;188;188;139	ENSP00000355961:A188V;ENSP00000355960:A188V;ENSP00000355959:A188V;ENSP00000388908:A139V	ENSP00000355959:A188V	A	-	2	0	INTS7	210247408	1.000000	0.71417	0.885000	0.34714	0.036000	0.12997	5.077000	0.64419	2.873000	0.98535	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	1	0	1	56	291	0	45	1	9.982291e-01	10	42	0	45	2		0	0	0	0	0	2	1	1	56	288	0	44	2								-3.034130	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DTL	51514	broad.mit.edu	37	1	212251574	212251574	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212251574T>G	ENST00000366991.4	+	12	1409	c.1095T>G	c.(1093-1095)tcT>tcG	p.S365S	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.S323S|MIR3122_ENST00000577243.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)			23					AGGTCACGTCTGTGTGCTGGT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000366991.4	1	1	hg19	CCDS1502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	1	0	1	88	313	0	77	1	9.877175e-01	12	15	0	77	2		0	0	0	0	0	2	1	1	85	303	0	77	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R5A	5525	broad.mit.edu	37	1	212519209	212519209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212519209G>A	ENST00000261461.2	+	5	1212	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha			16					GTTCTGCACCGAATTTATGGG	0.323000																								0							SO:0001583	missense			ENST00000261461.2	1	1	hg19	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750126	0.96890	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88499	0.3081	9	0.87932	D	0	-7.3463	19.3549	0.94408	0.0:0.0:1.0:0.0	.	156;213	B7Z7L2;Q15172	.;2A5A_HUMAN	Q	213;213;156	.	ENSP00000261461:R213Q	R	+	2	0	PPP2R5A	210585832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.666000	0.98612	2.573000	0.86826	0.491000	0.48974	CGA		TCGA-IB-7651-01A-11D-2154-08	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	1	0	1	70	299	0	49	1	1	37	124	0	49	2		0	0	0	0	0	2	1	1	69	294	0	49	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM206	55248	broad.mit.edu	37	1	212548540	212548540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212548540G>A	ENST00000261455.4	-	7	1023	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206			17					CTCACATCTTGGACTTTCTGG	0.313000																								0							SO:0001587	stop_gained			ENST00000261455.4	0	1	hg19	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461568	0.96240	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.67	5.67	0.87782	.	0.137522	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.1204	20.1421	0.98061	0.0:0.0:1.0:0.0	.	.	.	.	X	296;357	.	ENSP00000261455:Q296X	Q	-	1	0	TMEM206	210615163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.198000	0.51035	2.836000	0.97738	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	1	0	1	42	291	0	48	1	9.998718e-01	28	67	0	48	2		0	0	0	0	0	2	1	1	41	287	0	48	2								-2.807014	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
EIF4G3	8672	broad.mit.edu	37	1	21268212	21268212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268212C>T	ENST00000264211.8	-	8	1461	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A429T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3			70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)			ggaggagaagctggaggagtt	0.527000																								0							SO:0001583	missense			ENST00000264211.8	1	0	hg19	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248320	0.10130	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.62	2.7	0.31948	.	0.540393	0.20858	N	0.084418	T	0.09686	0.0238	N	0.08118	0	0.18873	N	0.999989	B;B;B;B;B;B	0.12013	0.005;0.003;0.003;0.001;0.0;0.001	B;B;B;B;B;B	0.12156	0.007;0.005;0.004;0.003;0.001;0.001	T	0.33879	-0.9851	10	0.24483	T	0.36	-1.3839	8.2271	0.31575	0.0:0.6398:0.1419:0.2183	.	423;618;549;27;429;423	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	T	423;619;423;429;27;549;423;434	ENSP00000264211:A423T;ENSP00000383274:A423T;ENSP00000364073:A429T;ENSP00000444693:A27T;ENSP00000364062:A423T	ENSP00000264211:A423T	A	-	1	0	EIF4G3	21140799	0.105000	0.21958	0.808000	0.32385	0.663000	0.39108	0.121000	0.15667	0.045000	0.15804	-0.797000	0.03246	GCT		TCGA-IB-7651-01A-11D-2154-08	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	0	1	59	415	0	109	1	9.999974e-01	16	116	0	109	2		0	0	0	0	0	2	1	1	58	402	0	108	2								-3.075759	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.957574	0.960000	1	9.100000e-01	1
EIF4G3	8672	broad.mit.edu	37	1	21268446	21268446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268446T>C	ENST00000264211.8	-	8	1227	c.1033A>G	c.(1033-1035)Aat>Gat	p.N345D	EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.N351D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3			70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)			GGAATATCATTAGGTGCTACA	0.368000																								0							SO:0001583	missense			ENST00000264211.8	1	1	hg19	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	7.730	0.699011	0.15106	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	6.17	5.03	0.67393	.	0.349556	0.32578	N	0.005906	T	0.10208	0.0250	N	0.14661	0.345	0.22541	N	0.99901	B;B;B;B;B	0.32467	0.185;0.167;0.372;0.023;0.094	B;B;B;B;B	0.30316	0.049;0.016;0.114;0.01;0.01	T	0.29305	-1.0016	10	0.13470	T	0.59	-2.3801	7.646	0.28321	0.0:0.073:0.3841:0.5429	.	345;540;471;351;345	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	345;541;345;351;471;345;356	ENSP00000264211:N345D;ENSP00000383274:N345D;ENSP00000364073:N351D;ENSP00000364062:N345D	ENSP00000264211:N345D	N	-	1	0	EIF4G3	21141033	0.477000	0.25909	1.000000	0.80357	0.982000	0.71751	0.318000	0.19504	1.134000	0.42165	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	1	0	1	95	812	0	181	1	9.964342e-01	4	69	0	181	2		0	0	0	0	0	2	1	1	94	802	0	181	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.954767	0.960000	1	9.000000e-01	9.900000e-01
EIF4G3	8672	broad.mit.edu	37	1	21268661	21268661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268661G>A	ENST00000264211.8	-	8	1012	c.818C>T	c.(817-819)tCt>tTt	p.S273F	EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S279F	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3			70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)			TCGAGCAACAGAAGAAACAGT	0.463000																								0							SO:0001583	missense			ENST00000264211.8	1	1	hg19	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025039	0.35701	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.96	5.96	0.96718	.	0.226323	0.46442	D	0.000299	T	0.13841	0.0335	N	0.08118	0	0.26073	N	0.981196	P;P;P;B;B	0.48016	0.824;0.608;0.904;0.004;0.162	B;B;P;B;B	0.44811	0.419;0.078;0.461;0.001;0.203	T	0.12066	-1.0562	10	0.59425	D	0.04	-2.8518	11.2797	0.49186	0.0822:0.0:0.9178:0.0	.	273;468;399;279;273	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	F	273;469;273;279;399;273;284	ENSP00000264211:S273F;ENSP00000383274:S273F;ENSP00000364073:S279F;ENSP00000364062:S273F	ENSP00000264211:S273F	S	-	2	0	EIF4G3	21141248	1.000000	0.71417	0.995000	0.50966	0.716000	0.41182	4.328000	0.59253	2.832000	0.97577	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	1	0	0	50	498	0	107	1	9.927607e-01	4	73	0	107	2		0	0	0	0	0	2	1	1	48	482	0	107	2								-14.458650	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.900000	0.710000	1.000000	0.970000	0.893253	0.900000	1	8.000000e-01	9.700000e-01
ATF3	467	broad.mit.edu	37	1	212791502	212791502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212791502C>T	ENST00000341491.4	+	3	539	c.274C>T	c.(274-276)Cga>Tga	p.R92*	ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*|ATF3_ENST00000492118.1_Intron|RN7SL512P_ENST00000578962.1_RNA|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*|ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3			6				Pseudoephedrine(DB00852)	GAAAAAGAGGCGACGAGAAAG	0.448000																								0							SO:0001587	stop_gained			ENST00000341491.4	0	1	hg19	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769942	0.90020	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985;ENST00000366983;ENST00000336937	.	.	.	5.51	3.62	0.41486	.	0.103434	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5233	14.2137	0.65779	0.4477:0.5523:0.0:0.0	.	.	.	.	X	92;92;92;35;92;63	.	ENSP00000336908:R63X	R	+	1	2	ATF3	210858125	0.803000	0.28956	1.000000	0.80357	0.644000	0.38419	-0.110000	0.10824	0.779000	0.33543	-1.312000	0.01307	CGA		TCGA-IB-7651-01A-11D-2154-08	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	1	0	0	40	444	0	131	0	9.890967e-01	0	80	0	131	2		0	0	0	0	0	2	1	1	39	438	0	130	2								-3.318793	1	1	121412	1	20	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.800000	1.000000	1.000000	0.978742	0.990000	1	9.500000e-01	1
FAM71A	149647	broad.mit.edu	37	1	212799202	212799202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212799202C>T	ENST00000294829.3	+	1	1414	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A			36					GGCAACATGGCCCTTGCAGGC	0.617000																								0							SO:0001583	missense			ENST00000294829.3	1	1	hg19	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422128	0.25639	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.04603	3.59	3.47	1.54	0.23209	.	.	.	.	.	T	0.04227	0.0117	L	0.51422	1.61	0.09310	N	1	P	0.39809	0.689	B	0.33254	0.16	T	0.39231	-0.9624	9	0.36615	T	0.2	-4.0201	3.9602	0.09407	0.2355:0.6397:0.0:0.1248	.	328	Q8IYT1	FA71A_HUMAN	V	328;103	ENSP00000294829:A328V	ENSP00000294829:A328V	A	+	2	0	FAM71A	210865825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.087000	0.14958	0.431000	0.26258	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	0	0	0	66	175	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	65	173	0	52	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLVCR1	28982	broad.mit.edu	37	1	213032402	213032402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032402C>T	ENST00000366971.4	+	1	806	c.608C>T	c.(607-609)aCc>aTc	p.T203I	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1			12					TTCTGGGTCACCATGTTGGGC	0.642000													Esophageal Squamous(199;2235 2952 19233 26256)											0							SO:0001583	missense			ENST00000366971.4	1	1	hg19	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.112425|5.112425	0.94339|0.94339	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.56275	.|0.47	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64516|0.64516	0.2605|0.2605	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|P	.|0.51240	.|0.943	.|P	.|0.53722	.|0.733	T|T	0.62388|0.62388	-0.6865|-0.6865	5|10	.|0.07325	.|T	.|0.83	-10.737|-10.737	18.3846|18.3846	0.90463|0.90463	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203	.|Q9Y5Y0	.|FLVC1_HUMAN	S|I	49|203	.|ENSP00000355938:T203I	.|ENSP00000355938:T203I	P|T	+|+	1|2	0|0	FLVCR1|FLVCR1	211099025|211099025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.429000|7.429000	0.80309|0.80309	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	CCA|ACC		TCGA-IB-7651-01A-11D-2154-08	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	1	0	1	81	232	0	55	1	9.263833e-01	8	7	0	55	2		0	0	0	0	0	2	1	1	81	229	0	55	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLVCR1	28982	broad.mit.edu	37	1	213032418	213032418	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032418C>T	ENST00000366971.4	+	1	822	c.624C>T	c.(622-624)tgC>tgT	p.C208C	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1			12					TGGGCCAGTGCTTGTGCTCGG	0.642000													Esophageal Squamous(199;2235 2952 19233 26256)											0							SO:0001819	synonymous_variant			ENST00000366971.4	1	1	hg19	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632584	0.29068	.	.	ENSG00000162769	ENST00000419102	.	.	.	5.5	2.5	0.30297	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48068	-0.9067	4	.	.	.	-19.1226	7.0555	0.25097	0.0:0.5941:0.2596:0.1463	.	.	.	.	V	54	.	.	A	+	2	0	FLVCR1	211099041	0.000000	0.05858	0.974000	0.42286	0.989000	0.77384	-0.401000	0.07232	0.685000	0.31468	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	1	0	1	65	240	0	55	1	8.818221e-01	2	14	0	55	2		0	0	0	0	0	2	1	1	65	238	0	55	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4G3	8672	broad.mit.edu	37	1	21307591	21307591	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21307591G>T	ENST00000264211.8	-	3	354	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000602326.1_Missense_Mutation_p.L61M	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	p.L54L(1)|p.L61L(1)		70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)			GGCATGGGCAGATGGTTAACC	0.517000																								2	Substitution - coding silent(2)						SO:0001583	missense			ENST00000264211.8	1	1	hg19	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551763	0.65311	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.83	4.92	0.64577	.	0.163224	0.41938	D	0.000784	T	0.40347	0.1113	L	0.36672	1.1	0.46542	D	0.999097	D;D;D;D;D;D	0.89917	1.0;0.999;0.978;1.0;0.999;0.998	D;D;P;D;D;D	0.91635	0.999;0.997;0.758;0.998;0.997;0.915	T	0.11131	-1.0600	10	0.33141	T	0.24	-7.9326	14.8028	0.69929	0.0693:0.0:0.9307:0.0	.	54;250;54;180;61;54	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	M	54;251;54;54;61;180;54;65;54;92	ENSP00000264211:L54M;ENSP00000383274:L54M;ENSP00000364071:L54M;ENSP00000364073:L61M;ENSP00000364062:L54M;ENSP00000395381:L54M;ENSP00000396083:L92M	ENSP00000264211:L54M	L	-	1	2	EIF4G3	21180178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.480000	0.60243	1.464000	0.47987	0.555000	0.69702	CTG		TCGA-IB-7651-01A-11D-2154-08	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	0	0	14	357	0	90	0	5.429283e-01	0	46	0	90	2		0	0	0	0	0	2	1	9.997530e-01	14	354	0	90	2								-4.129725	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.400000	0.230000	0.630000	0.400000	0.421524	0.400000	0	3.100000e-01	5.200000e-01
ANGEL2	90806	broad.mit.edu	37	1	213186643	213186643	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213186643T>C	ENST00000366962.3	-	2	331	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)			24					GAGAGTAATGTCCAGGCCACC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000366962.3	1	1	hg19	CCDS1512.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	1	0	0	76	786	0	143	1	9.550344e-01	4	50	0	143	2		0	0	0	0	0	2	1	1	74	770	0	143	2								-18.944630	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.920000	1.000000	1.000000	0.995788	0.990000	1	9.900000e-01	1
RPS6KC1	26750	broad.mit.edu	37	1	213415505	213415505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213415505G>T	ENST00000366960.3	+	11	2836	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1			43					ATTAGCACTAGCCTCCAGGTT	0.453000																								0							SO:0001583	missense			ENST00000366960.3	1	1	hg19	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	0.428	-0.904641	0.02453	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.91	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.528388	0.23014	N	0.052921	T	0.40322	0.1112	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.27640	-1.0068	10	0.10902	T	0.67	-21.3125	6.305	0.21133	0.7318:0.1345:0.1337:0.0	.	684;896;884	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	684;896;884;599	ENSP00000442306:A684S;ENSP00000355927:A896S;ENSP00000355926:A884S;ENSP00000439282:A599S	ENSP00000355926:A884S	A	+	1	0	RPS6KC1	211482128	0.061000	0.20836	0.057000	0.19452	0.939000	0.58152	2.481000	0.45215	0.471000	0.27319	-0.254000	0.11334	GCC		TCGA-IB-7651-01A-11D-2154-08	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	1	0	1	147	374	0	87	1	1	21	51	0	87	2		0	0	0	0	0	2	1	1	143	368	0	87	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROX1	5629	broad.mit.edu	37	1	214170140	214170140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170140C>T	ENST00000366958.4	+	2	870	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PROX1_ENST00000261454.4_Missense_Mutation_p.P88S|PROX1_ENST00000435016.1_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_Missense_Mutation_p.P88S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1			47					GATGCCTTTTCCAGGAGCAAC	0.483000																								0							SO:0001583	missense			ENST00000366958.4	1	1	hg19	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671909	0.29693	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.14661	0.345	0.80722	D	1	B	0.27166	0.17	B	0.34536	0.185	T	0.11470	-1.0586	10	0.20046	T	0.44	-2.4481	20.3627	0.98863	0.0:1.0:0.0:0.0	.	88	Q92786	PROX1_HUMAN	S	88	ENSP00000419517:P88S;ENSP00000420283:P88S;ENSP00000355925:P88S;ENSP00000400694:P88S;ENSP00000261454:P88S	ENSP00000261454:P88S	P	+	1	0	PROX1	212236763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.721000	0.68477	2.885000	0.99019	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	1	0	1	61	371	0	60	0	3.739514e-01	0	9	0	60	2		0	0	0	0	0	2	1	1	58	364	0	59	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROX1	5629	broad.mit.edu	37	1	214170468	214170468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170468C>A	ENST00000366958.4	+	2	1198	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	PROX1_ENST00000261454.4_Missense_Mutation_p.S197Y|PROX1_ENST00000435016.1_Missense_Mutation_p.S197Y|PROX1_ENST00000498508.2_Missense_Mutation_p.S197Y	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1			47					GCCCCGCAGTCTGTGAGTCCC	0.512000																								0							SO:0001583	missense			ENST00000366958.4	1	0	hg19	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327179	0.60743	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	6.07	6.07	0.98685	.	0.355134	0.34802	N	0.003664	T	0.30262	0.0759	N	0.22421	0.69	0.58432	D	0.999999	P	0.49253	0.921	P	0.48952	0.596	T	0.01360	-1.1375	10	0.59425	D	0.04	-3.0309	20.6593	0.99626	0.0:1.0:0.0:0.0	.	197	Q92786	PROX1_HUMAN	Y	197	ENSP00000420283:S197Y;ENSP00000355925:S197Y;ENSP00000400694:S197Y;ENSP00000261454:S197Y	ENSP00000261454:S197Y	S	+	2	0	PROX1	212237091	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.763000	0.62257	2.885000	0.99019	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	1	0	0	49	315	0	74	1	4.461152e-01	3	4	0	74	2		0	0	0	0	0	2	1	1	48	310	0	74	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PROX1	5629	broad.mit.edu	37	1	214170732	214170732	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170732A>G	ENST00000366958.4	+	2	1462	c.854A>G	c.(853-855)gAt>gGt	p.D285G	PROX1_ENST00000261454.4_Missense_Mutation_p.D285G|PROX1_ENST00000435016.1_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1			47					GAGATCCTGGATGCCAGGGCC	0.512000																								0							SO:0001583	missense			ENST00000366958.4	1	1	hg19	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	8.881	0.951668	0.18431	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.74	5.74	0.90152	.	0.646468	0.17515	N	0.171458	T	0.42223	0.1193	L	0.43152	1.355	0.54753	D	0.999988	B	0.02656	0.0	B	0.08055	0.003	T	0.21381	-1.0247	10	0.21540	T	0.41	-0.4293	16.0486	0.80740	1.0:0.0:0.0:0.0	.	285	Q92786	PROX1_HUMAN	G	285	ENSP00000420283:D285G;ENSP00000355925:D285G;ENSP00000400694:D285G;ENSP00000261454:D285G	ENSP00000261454:D285G	D	+	2	0	PROX1	212237355	1.000000	0.71417	0.929000	0.37066	0.990000	0.78478	7.327000	0.79147	2.183000	0.69458	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	1	0	1	81	250	0	72	1	9.102324e-01	7	8	0	72	2		0	0	0	0	0	2	1	1	80	242	0	71	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROX1	5629	broad.mit.edu	37	1	214171148	214171148	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214171148T>G	ENST00000366958.4	+	2	1878	c.1270T>G	c.(1270-1272)Ttt>Gtt	p.F424V	PROX1_ENST00000261454.4_Missense_Mutation_p.F424V|PROX1_ENST00000435016.1_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_Missense_Mutation_p.F424V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1			47					CCTGGACACCTTTGGCAATGT	0.582000																								0							SO:0001583	missense			ENST00000366958.4	1	1	hg19	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974146	0.53720	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.51574	0.72;0.7;0.72;0.72	5.43	5.43	0.79202	.	0.094831	0.85682	D	0.000000	T	0.65974	0.2743	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.64132	-0.6479	10	0.32370	T	0.25	-2.9139	15.4822	0.75537	0.0:0.0:0.0:1.0	.	424	Q92786	PROX1_HUMAN	V	424	ENSP00000420283:F424V;ENSP00000355925:F424V;ENSP00000400694:F424V;ENSP00000261454:F424V	ENSP00000261454:F424V	F	+	1	0	PROX1	212237771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.060000	0.61445	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	1	0	1	174	564	0	135	1	9.183372e-01	8	8	0	135	2		0	0	0	0	0	2	1	1	171	551	0	133	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMYD2	56950	broad.mit.edu	37	1	214500997	214500997	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214500997A>C	ENST00000366957.5	+	7	657	c.635A>C	c.(634-636)aAt>aCt	p.N212T	SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2			14					TGTTGCCCCAATGTCATTGTG	0.473000											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)												0							SO:0001583	missense			ENST00000366957.5	1	1	hg19	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927365	0.52759	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.90676	-2.71;-2.71	5.84	4.71	0.59529	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.76328	2.33	0.58432	D	0.999998	P;D	0.59357	0.883;0.985	P;P	0.58970	0.718;0.849	D	0.93210	0.6599	10	0.62326	D	0.03	-3.1334	11.9764	0.53094	0.932:0.0:0.068:0.0	.	212;196	Q9NRG4;Q05C86	SMYD2_HUMAN;.	T	212	ENSP00000355924:N212T;ENSP00000388682:N212T	ENSP00000355924:N212T	N	+	2	0	SMYD2	212567620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.838000	0.75359	1.027000	0.39758	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	1	0	1	80	445	0	116	1	9.999984e-01	37	70	0	116	2		0	0	0	0	0	2	1	1	76	437	0	115	2								-20.000000	1	0	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMYD2	56950	broad.mit.edu	37	1	214501057	214501057	+	Missense_Mutation	SNP	C	C	T	rs140909791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214501057C>T	ENST00000366957.5	+	7	717	c.695C>T	c.(694-696)cCg>cTg	p.P232L	SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2			14					GAAATCAAGCCGGGAGAGGAG	0.507000											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)												0							SO:0001583	missense			ENST00000366957.5	1	1	hg19	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570763	0.65765	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	D;D	0.82803	-1.65;-1.65	5.64	5.64	0.86602	SET domain (3);	0.048193	0.85682	D	0.000000	D	0.86326	0.5906	L	0.45285	1.41	0.80722	D	1	P;D	0.89917	0.828;1.0	B;P	0.58210	0.177;0.835	D	0.84064	0.0376	10	0.32370	T	0.25	0.2157	19.6851	0.95977	0.0:1.0:0.0:0.0	.	232;216	Q9NRG4;Q05C86	SMYD2_HUMAN;.	L	232	ENSP00000355924:P232L;ENSP00000388682:P232L	ENSP00000355924:P232L	P	+	2	0	SMYD2	212567680	1.000000	0.71417	0.338000	0.25549	0.881000	0.50899	7.449000	0.80643	2.645000	0.89757	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	1	0	1	62	275	0	79	1	1	19	131	0	79	2		0	0	0	0	0	2	1	1	61	270	0	77	2								-3.140533	1	0	121412	43	46	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN14	5784	broad.mit.edu	37	1	214546067	214546067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214546067A>G	ENST00000366956.5	-	16	3217	c.3023T>C	c.(3022-3024)gTc>gCc	p.V1008A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14			58					CTCTGCAGTGACCATGGCAAT	0.572000													Colon(92;557 1424 24372 34121 40073)											0							SO:0001583	missense			ENST00000366956.5	1	1	hg19	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012882	0.75161	.	.	ENSG00000152104	ENST00000366956	T	0.14266	2.52	5.4	5.4	0.78164	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.063634	0.64402	D	0.000007	T	0.31136	0.0787	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.01532	-1.1331	10	0.62326	D	0.03	.	15.716	0.77670	1.0:0.0:0.0:0.0	.	1008	Q15678	PTN14_HUMAN	A	1008	ENSP00000355923:V1008A	ENSP00000355923:V1008A	V	-	2	0	PTPN14	212612690	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.097000	0.94193	2.167000	0.68274	0.528000	0.53228	GTC		TCGA-IB-7651-01A-11D-2154-08	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	1	0	1	119	555	0	132	1	9.945428e-01	9	29	0	132	2		0	0	0	0	0	2	1	1	116	549	0	131	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN14	5784	broad.mit.edu	37	1	214557227	214557227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557227C>T	ENST00000366956.5	-	13	2165	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14			58					GCGACTTGAGCGTCATGGCCT	0.682000													Colon(92;557 1424 24372 34121 40073)											0							SO:0001819	synonymous_variant			ENST00000366956.5	1	1	hg19	CCDS1514.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	1	0	1	41	220	0	35	1	9.772960e-01	10	25	0	35	2		0	0	0	0	0	2	1	1	41	217	0	33	2								-20.000000	1	0	121410	5	33	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN14	5784	broad.mit.edu	37	1	214575046	214575046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214575046C>A	ENST00000366956.5	-	7	845	c.651G>T	c.(649-651)caG>caT	p.Q217H	PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14			58					GGAAGATTTCCTGTCCAAATC	0.428000													Colon(92;557 1424 24372 34121 40073)											0							SO:0001583	missense			ENST00000366956.5	0	1	hg19	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180272	0.78677	.	.	ENSG00000152104	ENST00000366956	T	0.77750	-1.12	5.28	5.28	0.74379	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.85252	0.1045	10	0.33940	T	0.23	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	217	Q15678	PTN14_HUMAN	H	217	ENSP00000355923:Q217H	ENSP00000355923:Q217H	Q	-	3	2	PTPN14	212641669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.082000	0.41605	2.469000	0.83416	0.557000	0.71058	CAG		TCGA-IB-7651-01A-11D-2154-08	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	0	0	0	13	830	0	152	0	9.578527e-02	0	31	0	152	2		0	0	0	0	0	2	1	9.994635e-01	12	814	0	152	2								-2.182299	0	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.220000	0.110000	1.000000	0.200000	0.390105	0.220000	0	1.600000e-01	1
CENPF	1063	broad.mit.edu	37	1	214813956	214813956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214813956G>A	ENST00000366955.3	+	12	2443	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa			126					CTTGCATGCCGAATATGAGAG	0.428000													Colon(80;575 1284 11000 14801 43496)											0							SO:0001583	missense			ENST00000366955.3	1	1	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119815	0.37436	.	.	ENSG00000117724	ENST00000366955	T	0.05447	3.44	5.59	3.6	0.41247	.	0.000000	0.38897	N	0.001534	T	0.16981	0.0408	.	.	.	0.26475	N	0.975212	D	0.76494	0.999	P	0.61592	0.891	T	0.01635	-1.1307	9	0.48119	T	0.1	.	11.1868	0.48662	0.0766:0.2134:0.71:0.0	.	759	P49454	CENPF_HUMAN	K	759	ENSP00000355922:E759K	ENSP00000355922:E759K	E	+	1	0	CENPF	212880579	0.726000	0.28059	0.045000	0.18777	0.323000	0.28346	1.106000	0.31098	1.372000	0.46190	-0.192000	0.12808	GAA		TCGA-IB-7651-01A-11D-2154-08	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	1	0	0	17	249	0	49	1	3.888941e-01	3	17	0	49	2		0	0	0	0	0	2	1	9.999632e-01	17	243	0	49	2								-3.075589	1	1	121412	1	27	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.920000	0.530000	1.000000	1.000000	0.871338	0.920000	1	6.900000e-01	1
CENPF	1063	broad.mit.edu	37	1	214815450	214815450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214815450G>T	ENST00000366955.3	+	12	3937	c.3769G>T	c.(3769-3771)Gaa>Taa	p.E1257*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa			126					GCAGTCACAAGAAATTAGTGG	0.413000													Colon(80;575 1284 11000 14801 43496)											0							SO:0001587	stop_gained			ENST00000366955.3	0	1	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	41	8.554706	0.98861	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.16	5.16	0.70880	.	0.195742	0.25313	N	0.031574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.3469	0.49565	0.0836:0.0:0.9164:0.0	.	.	.	.	X	1257	.	ENSP00000355922:E1257X	E	+	1	0	CENPF	212882073	0.660000	0.27420	0.877000	0.34402	0.312000	0.27988	2.472000	0.45136	2.414000	0.81942	0.511000	0.50034	GAA		TCGA-IB-7651-01A-11D-2154-08	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	1	0	1	52	297	0	60	0	6.793244e-01	1	14	0	60	2		0	0	0	0	0	2	1	1	51	290	0	59	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CENPF	1063	broad.mit.edu	37	1	214818475	214818475	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214818475G>T	ENST00000366955.3	+	13	5730	c.5562G>T	c.(5560-5562)caG>caT	p.Q1854H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa			126					GTGATCACCAGGAGTTACTCC	0.343000													Colon(80;575 1284 11000 14801 43496)											0							SO:0001583	missense			ENST00000366955.3	1	1	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	3.108	-0.183245	0.06340	.	.	ENSG00000117724	ENST00000366955	T	0.03635	3.86	4.91	0.0819	0.14426	.	1.540600	0.04574	N	0.393769	T	0.05593	0.0147	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.43556	-0.9384	10	0.51188	T	0.08	.	5.1055	0.14781	0.1513:0.1171:0.6118:0.1198	.	1950	P49454	CENPF_HUMAN	H	1854	ENSP00000355922:Q1854H	ENSP00000355922:Q1854H	Q	+	3	2	CENPF	212885098	0.994000	0.37717	0.008000	0.14137	0.207000	0.24258	0.915000	0.28638	0.101000	0.17610	0.609000	0.83330	CAG		TCGA-IB-7651-01A-11D-2154-08	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	1	0	1	56	236	0	47	0	4.038022e-01	0	7	0	47	2		0	0	0	0	0	2	1	1	55	231	0	47	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CENPF	1063	broad.mit.edu	37	1	214819626	214819626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214819626G>A	ENST00000366955.3	+	13	6881	c.6713G>A	c.(6712-6714)aGt>aAt	p.S2238N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa			126					TCATTTAAAAGTCTGTTAGAA	0.358000													Colon(80;575 1284 11000 14801 43496)											0							SO:0001583	missense			ENST00000366955.3	1	1	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	2.636	-0.285247	0.05605	.	.	ENSG00000117724	ENST00000366955	T	0.38240	1.15	4.69	0.0956	0.14486	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.977676	0.08333	N	0.962002	T	0.11024	0.0269	N	0.01091	-1.02	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.33007	-0.9885	10	0.13108	T	0.6	.	5.9842	0.19423	0.3633:0.1349:0.5019:0.0	.	2334	P49454	CENPF_HUMAN	N	2238	ENSP00000355922:S2238N	ENSP00000355922:S2238N	S	+	2	0	CENPF	212886249	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.053000	0.14184	-0.155000	0.11098	-0.414000	0.06135	AGT		TCGA-IB-7651-01A-11D-2154-08	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	1	0	1	69	375	0	75	0	7.658842e-01	1	16	0	75	2		0	0	0	0	0	2	1	1	69	367	0	75	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECE1	1889	broad.mit.edu	37	1	21553685	21553685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21553685C>T	ENST00000374893.6	-	16	1890	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S	ECE1_ENST00000357071.4_Missense_Mutation_p.G594S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S|ECE1_ENST00000436918.2_Missense_Mutation_p.G606S|ECE1_ENST00000415912.2_Missense_Mutation_p.G590S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1			25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)			AGCTCATGGCCCACGACGACA	0.507000																								0							SO:0001583	missense			ENST00000374893.6	1	1	hg19	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427961	0.96131	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.15	5.15	0.70609	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;0.999;0.991;0.995	D	0.96328	0.9241	10	0.87932	D	0	-35.2293	17.5678	0.87924	0.0:1.0:0.0:0.0	.	606;590;606;594;603	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	590;594;606;606;603	ENSP00000405088:G590S;ENSP00000349581:G594S;ENSP00000364028:G606S;ENSP00000388439:G606S;ENSP00000264205:G603S	ENSP00000264205:G603S	G	-	1	0	ECE1	21426272	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.412000	0.80091	2.556000	0.86216	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	0	0	1	20	287	1	107	1	9.787359e-01	52	325	1	107	13		0	0	0	0	0	2	1	9.557234e-01	20	272	1	106	11								-2.966682	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.680000	0.430000	0.940000	0.680000	0.696078	0.680000	0	5.500000e-01	8.300000e-01
KCTD3	51133	broad.mit.edu	37	1	215775224	215775224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215775224C>A	ENST00000259154.4	+	11	1243	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3			33					AGATGTTGTTCCTATAACTAG	0.328000																								0							SO:0001583	missense			ENST00000259154.4	1	1	hg19	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361649	0.82353	.	.	ENSG00000136636	ENST00000259154	T	0.06768	3.26	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	0.999;0.984;1.0;0.996	D;P;D;P	0.79108	0.964;0.813;0.992;0.885	T	0.00923	-1.1513	10	0.56958	D	0.05	-26.1819	18.4266	0.90611	0.0:1.0:0.0:0.0	.	69;69;317;317	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	T	317	ENSP00000259154:P317T	ENSP00000259154:P317T	P	+	1	0	KCTD3	213841847	1.000000	0.71417	0.897000	0.35233	0.991000	0.79684	7.487000	0.81328	2.600000	0.87896	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	1	0	1	48	227	0	60	1	9.999995e-01	24	82	0	60	2		0	0	0	0	0	2	1	1	48	220	0	60	2								-3.216632	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD3	51133	broad.mit.edu	37	1	215793638	215793638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793638G>A	ENST00000259154.4	+	18	2420	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3			33					ATATCTGAGAGAAAGTCTCCT	0.383000																								0							SO:0001583	missense			ENST00000259154.4	1	1	hg19	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181628	0.21787	.	.	ENSG00000136636	ENST00000259154	T	0.36340	1.26	5.81	4.71	0.59529	.	0.255861	0.42548	D	0.000685	T	0.19725	0.0474	N	0.16307	0.4	0.30987	N	0.721812	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.11179	-1.0598	10	0.10902	T	0.67	-24.209	10.4541	0.44539	0.1984:0.0:0.8016:0.0	.	459;461;707;709	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	K	709	ENSP00000259154:R709K	ENSP00000259154:R709K	R	+	2	0	KCTD3	213860261	0.962000	0.33011	0.952000	0.39060	0.951000	0.60555	1.038000	0.30254	2.750000	0.94351	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	0	0	1	130	379	0	76	1	1	55	152	0	76	2		0	0	0	0	0	2	1	1	127	371	0	76	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD3	51133	broad.mit.edu	37	1	215793742	215793742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793742G>T	ENST00000259154.4	+	18	2524	c.2230G>T	c.(2230-2232)Gaa>Taa	p.E744*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3			33					AAGGTCATCAGAAGATGAAAA	0.378000																								0							SO:0001587	stop_gained			ENST00000259154.4	0	1	hg19	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	41	9.094347	0.99064	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.81	4.9	0.64082	.	0.468579	0.24403	N	0.038832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.727	14.6228	0.68599	0.0697:0.0:0.9303:0.0	.	.	.	.	X	744	.	ENSP00000259154:E744X	E	+	1	0	KCTD3	213860365	1.000000	0.71417	0.819000	0.32651	0.993000	0.82548	8.169000	0.89672	1.456000	0.47831	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	1	0	1	114	401	0	76	1	1	39	132	0	76	2		0	0	0	0	0	2	1	1	114	394	0	76	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	215812508	215812508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215812508G>A	ENST00000307340.3	-	69	15427	c.15041C>T	c.(15040-15042)tCt>tTt	p.S5014F	USH2A_ENST00000366943.2_Missense_Mutation_p.S5014F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					AAGTCCAGTAGAGGTATCATA	0.398000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255912	0.39896	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.56;2.56	5.2	3.2	0.36748	Fibronectin, type III (1);	0.641375	0.12801	U	0.438029	T	0.23330	0.0564	M	0.63428	1.95	0.09310	N	1	D	0.56521	0.976	P	0.48030	0.564	T	0.11792	-1.0573	10	0.48119	T	0.1	.	15.9808	0.80108	0.0:0.3703:0.6297:0.0	.	5014	O75445	USH2A_HUMAN	F	5014	ENSP00000305941:S5014F;ENSP00000355910:S5014F	ENSP00000305941:S5014F	S	-	2	0	USH2A	213879131	0.194000	0.23325	0.015000	0.15790	0.374000	0.29953	2.955000	0.49121	1.176000	0.42840	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	240	742	0	196		0	0	0	0	196	2		0	0	0	0	0	2	1	1	235	734	0	194	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	215820899	215820899	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215820899G>T	ENST00000307340.3	-	67	15142	c.14756C>A	c.(14755-14757)gCt>gAt	p.A4919D	USH2A_ENST00000366943.2_Missense_Mutation_p.A4919D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					CCACTCGGAAGCCGTACTGCC	0.542000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468541	0.84533	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.62	4.71	0.59529	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.159701	0.28889	N	0.013817	T	0.71143	0.3305	M	0.82517	2.595	0.54753	D	0.99998	D	0.56968	0.978	D	0.63283	0.913	T	0.72544	-0.4261	10	0.34782	T	0.22	.	14.2275	0.65871	0.0719:0.0:0.9281:0.0	.	4919	O75445	USH2A_HUMAN	D	4919	ENSP00000305941:A4919D;ENSP00000355910:A4919D	ENSP00000305941:A4919D	A	-	2	0	USH2A	213887522	1.000000	0.71417	0.644000	0.29465	0.966000	0.64601	5.161000	0.64935	1.385000	0.46445	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	0	19	302	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.999910e-01	19	299	0	56	2								-19.986830	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.840000	0.500000	1.000000	1.000000	0.834399	0.840000	0	6.400000e-01	1
USH2A	7399	broad.mit.edu	37	1	215844619	215844619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215844619G>A	ENST00000307340.3	-	64	14214	c.13828C>T	c.(13828-13830)Caa>Taa	p.Q4610*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q4610*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					GTGCACGCTTGAATTCGTATT	0.428000										HNSCC(13;0.011)														0							SO:0001587	stop_gained			ENST00000307340.3	0	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	56	26.069887	0.99967	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	4.94	4.01	0.46588	.	0.000000	0.41712	D	0.000827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1318	0.65260	0.0:0.286:0.714:0.0	.	.	.	.	X	4610	.	ENSP00000305941:Q4610X	Q	-	1	0	USH2A	213911242	1.000000	0.71417	0.883000	0.34634	0.818000	0.46254	3.830000	0.55768	1.179000	0.42884	0.650000	0.86243	CAA		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	0	0	8	327	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	9.886456e-01	8	320	0	69	2								-3.486512	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.370000	0.150000	1.000000	0.320000	0.491094	0.370000	0	2.400000e-01	1
USH2A	7399	broad.mit.edu	37	1	215848163	215848163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215848163G>A	ENST00000307340.3	-	63	13476	c.13090C>T	c.(13090-13092)Ctt>Ttt	p.L4364F	USH2A_ENST00000366943.2_Missense_Mutation_p.L4364F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					ACGGCCCAAAGATCTGGAGGG	0.473000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353439	0.41700	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56103	0.48;0.48	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.205043	0.23971	U	0.042762	T	0.60104	0.2243	L	0.55990	1.75	0.09310	N	0.999996	D	0.55385	0.971	P	0.62298	0.9	T	0.51865	-0.8651	10	0.22706	T	0.39	.	8.7583	0.34658	0.0795:0.1522:0.7683:0.0	.	4364	O75445	USH2A_HUMAN	F	4364	ENSP00000305941:L4364F;ENSP00000355910:L4364F	ENSP00000305941:L4364F	L	-	1	0	USH2A	213914786	0.956000	0.32656	0.016000	0.15963	0.471000	0.32888	2.023000	0.41040	2.384000	0.81235	0.467000	0.42956	CTT		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	74	275	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	71	272	0	52	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECE1	1889	broad.mit.edu	37	1	21585263	21585263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21585263C>T	ENST00000374893.6	-	6	759	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ECE1_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T|ECE1_ENST00000436918.2_Missense_Mutation_p.A229T|ECE1_ENST00000415912.2_Missense_Mutation_p.A213T|ECE1_ENST00000528294.1_5'Flank	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1			25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)			CGGTAGTGGGCGGTGACCACC	0.597000																								0							SO:0001583	missense			ENST00000374893.6	1	1	hg19	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886033	0.51908	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.1	3.15	0.36227	Peptidase M13 (1);	0.157018	0.56097	N	0.000028	T	0.65770	0.2723	L	0.50333	1.59	0.53688	D	0.999975	B;B;B;B;B	0.22146	0.031;0.065;0.033;0.015;0.053	B;B;B;B;B	0.21151	0.022;0.02;0.033;0.012;0.019	T	0.60762	-0.7199	10	0.59425	D	0.04	-26.2798	8.0527	0.30587	0.1784:0.7349:0.0:0.0867	.	229;213;229;217;226	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	T	213;217;229;229;226	ENSP00000405088:A213T;ENSP00000349581:A217T;ENSP00000364028:A229T;ENSP00000388439:A229T;ENSP00000264205:A226T	ENSP00000264205:A226T	A	-	1	0	ECE1	21457850	0.994000	0.37717	0.627000	0.29227	0.757000	0.42996	3.234000	0.51320	0.472000	0.27344	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	1	0	1	27	269	0	55	1	1	33	257	0	55	2		0	0	0	0	0	2	1	1	26	262	0	53	2								-9.889962	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.870000	0.620000	1.000000	0.950000	0.859496	0.870000	1	7.500000e-01	9.600000e-01
USH2A	7399	broad.mit.edu	37	1	215960182	215960182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215960182G>A	ENST00000307340.3	-	52	10603	c.10217C>T	c.(10216-10218)tCt>tTt	p.S3406F	USH2A_ENST00000366943.2_Missense_Mutation_p.S3406F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					GGCTTCCATAGATGCTGGGCA	0.468000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664031	0.47572	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.17854	2.26;2.25	4.88	3.97	0.46021	Fibronectin, type III (3);	0.508801	0.16482	N	0.212481	T	0.28632	0.0709	M	0.66939	2.045	0.09310	N	1	D	0.54397	0.966	P	0.50440	0.641	T	0.09079	-1.0691	10	0.87932	D	0	.	11.7406	0.51790	0.0823:0.0:0.9177:0.0	.	3406	O75445	USH2A_HUMAN	F	3406	ENSP00000305941:S3406F;ENSP00000355910:S3406F	ENSP00000305941:S3406F	S	-	2	0	USH2A	214026805	0.296000	0.24398	0.001000	0.08648	0.490000	0.33462	3.445000	0.52921	1.037000	0.40024	-0.126000	0.14955	TCT		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	46	233	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	41	216	0	39	2								-20.000000	1	1	121396	2	31	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	215990410	215990410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215990410G>A	ENST00000307340.3	-	48	9885	c.9499C>T	c.(9499-9501)Ctc>Ttc	p.L3167F	USH2A_ENST00000366943.2_Missense_Mutation_p.L3167F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					GCCTTGCAGAGCTCATCACTC	0.413000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	7.214	0.595959	0.13875	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.57;2.56	5.02	0.121	0.14695	Fibronectin, type III (2);	0.468942	0.16745	N	0.201268	T	0.06781	0.0173	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37572	-0.9700	10	0.08837	T	0.75	.	0.8745	0.01221	0.3763:0.2639:0.2076:0.1522	.	3167	O75445	USH2A_HUMAN	F	3167	ENSP00000305941:L3167F;ENSP00000355910:L3167F	ENSP00000305941:L3167F	L	-	1	0	USH2A	214057033	0.000000	0.05858	0.342000	0.25602	0.513000	0.34164	-0.152000	0.10159	0.188000	0.20168	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	0	0	22	660	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	9.999983e-01	22	644	0	123	2								-3.244986	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.450000	0.270000	1.000000	0.430000	0.562170	0.450000	0	3.500000e-01	1
USH2A	7399	broad.mit.edu	37	1	216011418	216011418	+	Missense_Mutation	SNP	C	C	T	rs147267500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216011418C>T	ENST00000307340.3	-	47	9672	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	USH2A_ENST00000366943.2_Missense_Mutation_p.V3096M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					TTGCTTTTCACGCAGGCATAT	0.373000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005754	0.54254	9.08E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.01	5.01	0.66863	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.368167	0.19296	N	0.117756	T	0.67590	0.2909	M	0.70595	2.14	0.41726	D	0.989538	D	0.71674	0.998	P	0.56088	0.791	T	0.71069	-0.4699	10	0.52906	T	0.07	.	17.9566	0.89070	0.0:1.0:0.0:0.0	.	3096	O75445	USH2A_HUMAN	M	3096	ENSP00000305941:V3096M;ENSP00000355910:V3096M	ENSP00000305941:V3096M	V	-	1	0	USH2A	214078041	0.900000	0.30661	0.995000	0.50966	0.284000	0.27059	1.227000	0.32576	2.331000	0.79229	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	85	530	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	1	83	523	0	108	2								-20.000000	1	1	121412	6	45	1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	216019173	216019173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216019173G>A	ENST00000307340.3	-	45	9434	c.9048C>T	c.(9046-9048)tgC>tgT	p.C3016C	USH2A_ENST00000366943.2_Silent_p.C3016C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	p.C3016C(1)		527					CACCCCCATCGCAAGTGGTTG	0.448000										HNSCC(13;0.011)														1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000307340.3	1	1	hg19	CCDS31025.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	0	32	216	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	32	211	0	32	2								-14.921810	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999917	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	216040414	216040414	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216040414C>A	ENST00000307340.3	-	44	9166	c.8780G>T	c.(8779-8781)aGa>aTa	p.R2927I	USH2A_ENST00000366943.2_Missense_Mutation_p.R2927I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					ATTGGCTCCTCTCTCTGGAAG	0.468000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267238	0.80469	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.72	4.71	0.59529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.153716	0.30043	N	0.010554	T	0.55465	0.1922	M	0.63428	1.95	0.44555	D	0.997512	D	0.54397	0.966	P	0.58331	0.837	T	0.53415	-0.8442	10	0.38643	T	0.18	.	6.9019	0.24286	0.0:0.8028:0.0:0.1972	.	2927	O75445	USH2A_HUMAN	I	2927	ENSP00000305941:R2927I;ENSP00000355910:R2927I	ENSP00000305941:R2927I	R	-	2	0	USH2A	214107037	0.990000	0.36364	1.000000	0.80357	0.871000	0.50021	0.982000	0.29539	2.711000	0.92665	0.557000	0.71058	AGA		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	68	256	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	67	251	0	46	2								-3.225376	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SKI	6497	broad.mit.edu	37	1	2160432	2160432	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160432T>C	ENST00000378536.4	+	1	299	c.227T>C	c.(226-228)cTg>cCg	p.L76P		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene			10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)				GTGCTGCACCTGCCCGCCATC	0.761000													Ovarian(177;144 1678 13697 20086 27838 40755)											0							SO:0001583	missense			ENST00000378536.4	0	1	hg19	CCDS39.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685220	0.47991	.	.	ENSG00000157933	ENST00000378536	D	0.96136	-3.92	2.61	2.61	0.31194	.	0.437967	0.20248	U	0.096156	D	0.92770	0.7701	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.91623	0.5312	10	0.52906	T	0.07	-7.6158	9.7448	0.40440	0.0:0.0:0.0:1.0	.	76	P12755	SKI_HUMAN	P	76	ENSP00000367797:L76P	ENSP00000367797:L76P	L	+	2	0	SKI	2150292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.193000	0.50997	1.060000	0.40578	0.323000	0.21402	CTG		TCGA-IB-7651-01A-11D-2154-08	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	0	0	0	7	41	0	13	0	0	0	1	0	13	2		0	0	0	0	0	2	1	9.820674e-01	7	40	0	13	2								-17.999420	1	1	114386	3	25	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.850000	0.490000	1.000000	0.990000	0.827568	0.850000	1	6.800000e-01	9.600000e-01
USH2A	7399	broad.mit.edu	37	1	216062136	216062136	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216062136T>A	ENST00000307340.3	-	41	8241	c.7855A>T	c.(7855-7857)Aca>Tca	p.T2619S	USH2A_ENST00000366943.2_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					CCTGGGAGTGTCCATACAGTC	0.502000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771514	0.69992	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.65178	-0.14;-0.14	5.84	5.84	0.93424	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000477	T	0.81034	0.4739	M	0.86028	2.79	0.51767	D	0.999934	D	0.89917	1.0	D	0.72075	0.976	T	0.82725	-0.0315	10	0.48119	T	0.1	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	2619	O75445	USH2A_HUMAN	S	2619	ENSP00000305941:T2619S;ENSP00000355910:T2619S	ENSP00000305941:T2619S	T	-	1	0	USH2A	214128759	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	7.442000	0.80503	2.228000	0.72767	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	84	246	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	82	239	0	59	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SKI	6497	broad.mit.edu	37	1	2160862	2160862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160862C>T	ENST00000378536.4	+	1	729	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene			10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)				GCAGCGTCCGCGTGTACCACG	0.706000													Ovarian(177;144 1678 13697 20086 27838 40755)											0							SO:0001819	synonymous_variant			ENST00000378536.4	0	1	hg19	CCDS39.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	0	0	1	4	100	0	20	1	6.402354e-01	5	46	0	20	2		0	0	0	0	0	2	1	8.895095e-01	4	99	0	19	2								-7.517457	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.420000	0.140000	0.830000	0.380000	0.453974	0.420000	0	2.600000e-01	6.400000e-01
SKI	6497	broad.mit.edu	37	1	2160910	2160910	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160910G>T	ENST00000378536.4	+	1	777	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene			10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)				TGGTGCCCGAGCTCTACAGCA	0.682000													Ovarian(177;144 1678 13697 20086 27838 40755)											0							SO:0001583	missense			ENST00000378536.4	1	1	hg19	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559203	0.65538	.	.	ENSG00000157933	ENST00000378536	D	0.96200	-3.94	4.3	4.3	0.51218	SAND domain-like (2);c-SKI Smad4-binding (1);	0.061228	0.64402	D	0.000004	D	0.96636	0.8902	M	0.64997	1.995	0.54753	D	0.999982	D	0.71674	0.998	D	0.67103	0.949	D	0.95726	0.8770	10	0.30078	T	0.28	-21.7522	15.7222	0.77721	0.0:0.0:1.0:0.0	.	235	P12755	SKI_HUMAN	D	235	ENSP00000367797:E235D	ENSP00000367797:E235D	E	+	3	2	SKI	2150770	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.335000	0.72949	1.934000	0.56057	0.393000	0.25936	GAG		TCGA-IB-7651-01A-11D-2154-08	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	1	0	0	36	113	0	32	1	9.999546e-01	6	47	0	32	2		0	0	0	0	0	2	1	1	35	112	0	31	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.966944	0.970000	1	9.300000e-01	1
USH2A	7399	broad.mit.edu	37	1	216243446	216243446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216243446T>C	ENST00000307340.3	-	30	6432	c.6046A>G	c.(6046-6048)Aca>Gca	p.T2016A	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T2016A|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					CATTTACCTGTGAGGTTGCTT	0.378000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532906	0.45073	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58506	0.33;0.33	5.47	-1.0	0.10196	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.761040	0.10938	N	0.617623	T	0.46580	0.1400	M	0.64404	1.975	0.28700	N	0.904138	B	0.28128	0.201	B	0.28232	0.087	T	0.38650	-0.9651	10	0.17369	T	0.5	.	5.0131	0.14322	0.2222:0.1171:0.0:0.6607	.	2016	O75445	USH2A_HUMAN	A	2016	ENSP00000305941:T2016A;ENSP00000355910:T2016A	ENSP00000305941:T2016A	T	-	1	0	USH2A	214310069	0.991000	0.36638	0.014000	0.15608	0.206000	0.24218	1.313000	0.33585	-0.461000	0.06993	-0.479000	0.04858	ACA		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	42	239	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	42	234	0	33	2								-19.873380	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	216256823	216256823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216256823T>G	ENST00000307340.3	-	26	5659	c.5273A>C	c.(5272-5274)aAc>aCc	p.N1758T	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	p.N1758T(1)		527					TCCATCTTTGTTATAAACGAA	0.303000										HNSCC(13;0.011)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331504	0.60853	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79940	-1.32;-1.32	4.38	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000186	D	0.86732	0.6003	M	0.73598	2.24	0.35285	D	0.781655	D	0.76494	0.999	D	0.69307	0.963	D	0.88206	0.2887	10	0.44086	T	0.13	.	9.8214	0.40885	0.0:0.0824:0.0:0.9176	.	1758	O75445	USH2A_HUMAN	T	1758	ENSP00000305941:N1758T;ENSP00000355910:N1758T	ENSP00000305941:N1758T	N	-	2	0	USH2A	214323446	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	2.642000	0.46596	0.656000	0.30886	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	123	344	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	122	340	0	109	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	216258214	216258214	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216258214T>G	ENST00000307340.3	-	25	5379	c.4993A>C	c.(4993-4995)Atc>Ctc	p.I1665L	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					CCTTTTTGGATTATCTCTGCA	0.333000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015583	0.35511	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78707	-1.2;-1.2	4.93	-2.28	0.06826	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.479810	0.17138	N	0.185577	T	0.57799	0.2078	N	0.21097	0.63	0.20764	N	0.999851	B	0.06786	0.001	B	0.10450	0.005	T	0.41680	-0.9495	10	0.32370	T	0.25	.	7.1839	0.25789	0.0:0.3409:0.114:0.5451	.	1665	O75445	USH2A_HUMAN	L	1665	ENSP00000305941:I1665L;ENSP00000355910:I1665L	ENSP00000305941:I1665L	I	-	1	0	USH2A	214324837	0.817000	0.29147	0.322000	0.25334	0.952000	0.60782	0.189000	0.17037	-0.335000	0.08451	0.529000	0.55759	ATC		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	109	293	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	105	287	0	73	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	216270488	216270488	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216270488A>G	ENST00000307340.3	-	22	5081	c.4695T>C	c.(4693-4695)aaT>aaC	p.N1565N	USH2A_ENST00000366943.2_Silent_p.N1565N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					ACTCTTCCTGATTGCCAGGTG	0.378000										HNSCC(13;0.011)														0							SO:0001819	synonymous_variant			ENST00000307340.3	1	1	hg19	CCDS31025.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	0	23	280	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.999994e-01	23	276	0	49	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.670000	1.000000	1.000000	0.944877	0.990000	1	8.400000e-01	1
USH2A	7399	broad.mit.edu	37	1	216390747	216390747	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216390747G>A	ENST00000307340.3	-	15	3525	c.3139C>T	c.(3139-3141)Cta>Tta	p.L1047L	USH2A_ENST00000366943.2_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					CAACCCAATAGATTGTTGACA	0.448000										HNSCC(13;0.011)														0							SO:0001819	synonymous_variant			ENST00000307340.3	1	1	hg19	CCDS31025.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	72	221	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	71	217	0	45	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	216424250	216424250	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216424250A>C	ENST00000307340.3	-	12	2548	c.2162T>G	c.(2161-2163)gTt>gGt	p.V721G	USH2A_ENST00000366943.2_Missense_Mutation_p.V721G|USH2A_ENST00000366942.3_Missense_Mutation_p.V721G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					CGTACCAATAACGTTTGCTTT	0.403000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108035	0.56291	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.66815	-0.23;-0.23;-0.23	5.26	4.13	0.48395	EGF-like, laminin (4);	0.000000	0.39544	N	0.001331	D	0.87521	0.6198	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	D	0.89397	0.3693	10	0.72032	D	0.01	.	10.6956	0.45896	0.9247:0.0:0.0753:0.0	.	721;721	O75445-2;O75445	.;USH2A_HUMAN	G	721	ENSP00000305941:V721G;ENSP00000355910:V721G;ENSP00000355909:V721G	ENSP00000305941:V721G	V	-	2	0	USH2A	214490873	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.606000	0.67641	0.850000	0.35239	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	36	162	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	35	157	0	24	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	216465665	216465665	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216465665A>C	ENST00000307340.3	-	10	2078	c.1692T>G	c.(1690-1692)ggT>ggG	p.G564G	USH2A_ENST00000366943.2_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					AAACTTGATCACCTTGGCGGA	0.383000										HNSCC(13;0.011)														0							SO:0001819	synonymous_variant			ENST00000307340.3	1	1	hg19	CCDS31025.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	0	28	367	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	28	362	0	71	2								-8.205407	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.650000	1.000000	1.000000	0.922981	0.990000	1	7.900000e-01	1
USH2A	7399	broad.mit.edu	37	1	216595582	216595582	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216595582A>G	ENST00000307340.3	-	2	483	c.97T>C	c.(97-99)Tca>Cca	p.S33P	USH2A_ENST00000366943.2_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					AGACCTCGTGACTCAGTCAAG	0.453000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718988	0.15372	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20598	2.5;2.49;2.06	5.27	2.96	0.34315	.	0.207614	0.23881	N	0.043646	T	0.16471	0.0396	L	0.49640	1.575	0.33847	D	0.632119	B;B	0.15930	0.015;0.007	B;B	0.16289	0.015;0.007	T	0.14144	-1.0483	10	0.28530	T	0.3	.	5.2408	0.15471	0.7218:0.0:0.1465:0.1317	.	33;33	O75445-2;O75445	.;USH2A_HUMAN	P	33	ENSP00000305941:S33P;ENSP00000355910:S33P;ENSP00000355909:S33P	ENSP00000305941:S33P	S	-	1	0	USH2A	214662205	1.000000	0.71417	0.012000	0.15200	0.291000	0.27294	1.496000	0.35638	0.335000	0.23614	0.482000	0.46254	TCA		TCGA-IB-7651-01A-11D-2154-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	0	1	64	298	1	67		0	0	0	1	67	2		0	0	0	0	0	2	1	1	62	290	0	67	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBPF3	84224	broad.mit.edu	37	1	21771700	21771700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21771700C>T	ENST00000318249.5	+	2	471	c.121C>T	c.(121-123)Cga>Tga	p.R41*	NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*|NBPF3_ENST00000478653.2_3'UTR	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3			20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)			TCAAGAGCTGCGAGATCCAAC	0.537000																								0							SO:0001587	stop_gained			ENST00000318249.5	0	1	hg19	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	33	5.226067	0.95173	0.0	1.16E-4	ENSG00000142794	ENST00000454000;ENST00000318249;ENST00000342104	.	.	.	0.717	0.717	0.18196	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.8957	0.13749	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000316782:R41X	R	+	1	2	NBPF3	21644287	0.029000	0.19370	0.008000	0.14137	0.311000	0.27955	0.522000	0.22909	0.712000	0.32039	0.271000	0.19318	CGA		TCGA-IB-7651-01A-11D-2154-08	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	13	202	0	61	0	4.555372e-01	1	23	0	61	2		0	0	0	0	0	2	1	9.994810e-01	13	195	0	61	2								-3.078407	1	1	121404	5	37	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.630000	0.360000	0.930000	0.620000	0.648725	0.630000	0	4.800000e-01	8.000000e-01
SPATA17	128153	broad.mit.edu	37	1	217824443	217824443	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:217824443T>A	ENST00000366933.4	+	3	218	c.163T>A	c.(163-165)Tta>Ata	p.L55I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17			21					TCCTAGGCATTTAAACAGGAT	0.284000																								0							SO:0001583	missense			ENST00000366933.4	1	1	hg19	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401820	0.62288	.	.	ENSG00000162814	ENST00000366933	T	0.73575	-0.76	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	T	0.79257	0.4415	L	0.48877	1.53	0.33333	D	0.568893	D	0.89917	1.0	D	0.91635	0.999	T	0.82788	-0.0284	10	0.45353	T	0.12	-6.4751	7.6782	0.28499	0.0:0.097:0.0:0.903	.	55	Q96L03	SPT17_HUMAN	I	55	ENSP00000355900:L55I	ENSP00000355900:L55I	L	+	1	2	SPATA17	215891066	0.993000	0.37304	0.561000	0.28357	0.035000	0.12851	1.911000	0.39937	1.964000	0.57103	0.528000	0.53228	TTA		TCGA-IB-7651-01A-11D-2154-08	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	1	0	1	44	257	0	68	0	7.341786e-01	1	16	0	68	2		0	0	0	0	0	2	1	1	45	257	0	68	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NBPF3	84224	broad.mit.edu	37	1	21797189	21797189	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21797189G>A	ENST00000318249.5	+	4	758	c.408G>A	c.(406-408)gaG>gaA	p.E136E	NBPF3_ENST00000342104.5_Silent_p.E136E|NBPF3_ENST00000318220.6_Silent_p.E80E|NBPF3_ENST00000454000.2_Silent_p.E66E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3			20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)			TCACAGAAGAGAAGCTTGCAG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000318249.5	1	1	hg19	CCDS216.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	39	387	0	96	1	6.398195e-01	3	20	0	96	2		0	0	0	0	0	2	1	1	38	377	0	96	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.890000	0.680000	1.000000	0.960000	0.881772	0.890000	1	7.800000e-01	9.700000e-01
SPATA17	128153	broad.mit.edu	37	1	218036156	218036156	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218036156A>C	ENST00000366933.4	+	10	1101	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17			21					CTCTTCTCAAAGTATGGAAAA	0.289000																								0							SO:0001583	missense			ENST00000366933.4	1	1	hg19	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683936	0.47991	.	.	ENSG00000162814	ENST00000366933	T	0.53423	0.62	5.38	3.08	0.35506	.	0.325508	0.26282	N	0.025278	T	0.49729	0.1574	M	0.74881	2.28	0.36585	D	0.873784	D	0.53619	0.961	P	0.46629	0.522	T	0.60880	-0.7175	10	0.72032	D	0.01	-4.4574	7.5057	0.27542	0.8309:0.0:0.1691:0.0	.	349	Q96L03	SPT17_HUMAN	T	349	ENSP00000355900:K349T	ENSP00000355900:K349T	K	+	2	0	SPATA17	216102779	0.989000	0.36119	0.575000	0.28536	0.529000	0.34654	2.795000	0.47861	0.868000	0.35678	0.477000	0.44152	AAG		TCGA-IB-7651-01A-11D-2154-08	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	0	0	0	37	632	0	185	0	2.913512e-02	0	5	0	185	2		0	0	0	0	0	2	1	1	37	616	0	185	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.760000	0.520000	1.000000	0.720000	0.793670	0.760000	0	6.300000e-01	1
TGFB2	7042	broad.mit.edu	37	1	218520115	218520115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218520115C>T	ENST00000366930.4	+	1	539	c.72C>T	c.(70-72)tgC>tgT	p.C24C	RP11-224O19.2_ENST00000414452.1_RNA|TGFB2_ENST00000366929.4_Silent_p.C24C	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2			31					TGTCTACCTGCAGCACACTCG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000366930.4	1	1	hg19	CCDS1521.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	1	0	0	116	397	0	107	0	9.768188e-01	1	22	0	107	2		0	0	0	0	0	2	1	1	115	395	0	105	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPL	249	broad.mit.edu	37	1	21889699	21889699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21889699G>A	ENST00000374840.3	+	5	644	c.394G>A	c.(394-396)Gca>Aca	p.A132T	ALPL_ENST00000425315.2_Missense_Mutation_p.A132T|ALPL_ENST00000374832.1_Missense_Mutation_p.A132T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney			26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Amifostine(DB01143)|Fospropofol(DB06716)	GGGGGTAAGCGCAGCCACTGA	0.667000																								0		GRCh37	CM068249	ALPL	M		SO:0001583	missense			ENST00000374840.3	1	1	hg19	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240773	0.95240	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.050790	0.85682	D	0.000000	D	0.97405	0.9151	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.977;0.995	D	0.97812	1.0251	10	0.59425	D	0.04	-20.2969	15.8954	0.79329	0.0:0.0:1.0:0.0	.	55;80;132	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	T	55;77;132;132;132	ENSP00000437674:A55T;ENSP00000442672:A77T;ENSP00000363973:A132T;ENSP00000363965:A132T;ENSP00000394765:A132T	ENSP00000363965:A132T	A	+	1	0	ALPL	21762286	1.000000	0.71417	0.956000	0.39512	0.837000	0.47467	9.383000	0.97214	2.320000	0.78422	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	1	0	1	43	363	0	64	0	9.424163e-02	0	5	0	64	2		0	0	0	0	0	2	1	1	43	357	0	63	2								-2.920854	1	1	121408	2	34	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.930000	0.750000	1.000000	0.990000	0.922806	0.930000	1	8.500000e-01	9.900000e-01
ALPL	249	broad.mit.edu	37	1	21890669	21890669	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21890669A>G	ENST00000374840.3	+	6	858	c.608A>G	c.(607-609)gAc>gGc	p.D203G	ALPL_ENST00000425315.2_Missense_Mutation_p.D203G|ALPL_ENST00000374832.1_Missense_Mutation_p.D203G|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney			26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Amifostine(DB01143)|Fospropofol(DB06716)	GGCTGTAAGGACATCGCCTAC	0.657000																								0							SO:0001583	missense			ENST00000374840.3	1	1	hg19	CCDS217.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958174	0.92726	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.39	5.39	0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.90759	3.145	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.988	D;D;D	0.83275	0.996;0.979;0.955	D	0.99659	1.0993	10	0.72032	D	0.01	-32.7123	14.2145	0.65783	1.0:0.0:0.0:0.0	.	126;151;203	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	G	126;148;203;203;203	ENSP00000437674:D126G;ENSP00000442672:D148G;ENSP00000363973:D203G;ENSP00000363965:D203G;ENSP00000394765:D203G	ENSP00000363965:D203G	D	+	2	0	ALPL	21763256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.841000	0.92131	2.038000	0.60285	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	0	0	0	9	288	0	62	0	3.646071e-02	0	9	0	62	2		0	0	0	0	0	2	1	9.944091e-01	9	288	0	62	2								-10.095120	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.330000	0.160000	0.570000	0.320000	0.348219	0.330000	0	2.300000e-01	4.500000e-01
RAP1GAP	5909	broad.mit.edu	37	1	21928254	21928254	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21928254G>A	ENST00000374765.4	-	20	1775	c.1575C>T	c.(1573-1575)agC>agT	p.S525S	RAP1GAP_ENST00000290101.4_Silent_p.S589S|RAP1GAP_ENST00000374761.2_Silent_p.S556S|RAP1GAP_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000542643.2_Silent_p.S551S	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein			17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)			AGACGTGCCCGCTGTCTGGGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000374765.4	1	1	hg19	CCDS218.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	1	0	1	32	170	0	45	1	9.999916e-01	13	88	0	45	2		0	0	0	0	0	2	1	1	32	168	0	45	2								-3.352502	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.948284	0.950000	1	8.900000e-01	9.900000e-01
RAP1GAP	5909	broad.mit.edu	37	1	21936611	21936611	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21936611A>G	ENST00000374765.4	-	14	1200		c.e14+1		RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000542643.2_Splice_Site	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein			17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)			AAGAGCGCCCACCTTGTAGAG	0.627000																								0							SO:0001630	splice_region_variant			ENST00000374765.4	1	1	hg19	CCDS218.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.381459	0.61845	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0701	0.64854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAP1GAP	21809198	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	7.473000	0.81007	2.279000	0.76181	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	1	0	1	30	126	0	35	0	0	1	0	0	35	2		0	0	0	0	0	2	1	1	29	124	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.953894	0.960000	1	9.000000e-01	9.900000e-01
LYPLAL1	127018	broad.mit.edu	37	1	219366593	219366593	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:219366593G>T	ENST00000366928.5	+	3	408	c.361G>T	c.(361-363)Gga>Tga	p.G121*	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Splice_Site_p.G105*	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1			6					GATATTAATAGGTAAGACCTT	0.318000																								0							SO:0001630	splice_region_variant			ENST00000366928.5	0	0	hg19	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568093	0.86439	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	121;105	.	ENSP00000355894:G105X	G	+	1	0	LYPLAL1	217433216	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.780000	0.85658	2.753000	0.94483	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	1	0	1	34	116	0	45	0	9.999852e-01	0	64	0	45	2		0	0	0	0	0	2	1	1	34	114	0	45	2								-3.944348	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC30A10	55532	broad.mit.edu	37	1	220091645	220091645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220091645C>T	ENST00000366926.3	-	3	1071	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10			13					AGCAGAATGGCAGCGGTCTCC	0.463000													Colon(76;360 1614 43677 51136)											0							SO:0001583	missense			ENST00000366926.3	1	1	hg19	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377786	0.42105	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.63744	-0.06;-0.06	6.01	0.302	0.15786	.	1.253450	0.05112	N	0.489145	T	0.42086	0.1187	N	0.17474	0.49	0.09310	N	1	B	0.16166	0.016	B	0.18871	0.023	T	0.21314	-1.0249	9	.	.	.	-4.4809	3.8409	0.08914	0.46:0.2313:0.0:0.3087	.	304	Q6XR72	ZNT10_HUMAN	T	304;59	ENSP00000355893:A304T;ENSP00000439489:A59T	.	A	-	1	0	SLC30A10	218158268	0.009000	0.17119	0.185000	0.23176	0.988000	0.76386	0.305000	0.19254	0.389000	0.25086	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	1	0	1	114	600	0	135	0	6.930469e-02	1	2	0	135	2		0	0	0	0	0	2	1	1	111	583	0	135	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPRS	2058	broad.mit.edu	37	1	220146653	220146653	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220146653T>C	ENST00000366923.3	-	29	4440	c.4171A>G	c.(4171-4173)Aca>Gca	p.T1391A		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase			63				L-Proline(DB00172)	TCAGCAACTGTCAGCTTTTCT	0.413000																								0							SO:0001583	missense			ENST00000366923.3	1	1	hg19	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160452	0.78226	.	.	ENSG00000136628	ENST00000366923	D	0.82984	-1.67	5.81	5.81	0.92471	Anticodon-binding (3);	0.048876	0.85682	D	0.000000	D	0.83156	0.5193	L	0.59436	1.845	0.53005	D	0.999969	B	0.31640	0.333	B	0.37091	0.241	T	0.82780	-0.0288	10	0.56958	D	0.05	-14.8289	16.1668	0.81768	0.0:0.0:0.0:1.0	.	1391	P07814	SYEP_HUMAN	A	1391	ENSP00000355890:T1391A	ENSP00000355890:T1391A	T	-	1	0	EPRS	218213276	1.000000	0.71417	0.979000	0.43373	0.784000	0.44337	4.732000	0.62029	2.210000	0.71456	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	0	0	0	24	607	0	118	1	9.999998e-01	49	605	0	118	2		0	0	0	0	0	2	1	9.999995e-01	24	589	0	117	2								-4.214869	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.530000	0.330000	1.000000	0.500000	0.621276	0.530000	0	4.200000e-01	1
BPNT1	10380	broad.mit.edu	37	1	220240718	220240718	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220240718T>C	ENST00000469520.2	-	7	849	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A|BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1			14					ATAAGAACTGTTACATTGTCA	0.308000																								0							SO:0001583	missense			ENST00000469520.2	1	1	hg19	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616325	0.87359	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.984	D	0.90526	0.4492	10	0.62326	D	0.03	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	98;134;134	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	A	134;134;134;134;79;98;98;98;79	ENSP00000318852:T134A;ENSP00000446828:T134A;ENSP00000346862:T134A;ENSP00000444398:T79A;ENSP00000410348:T98A;ENSP00000446953:T98A;ENSP00000446850:T98A;ENSP00000448740:T79A	ENSP00000307087:T134A	T	-	1	0	BPNT1	218307341	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.788000	0.85771	2.272000	0.75746	0.460000	0.39030	ACA		TCGA-IB-7651-01A-11D-2154-08	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	1	0	1	47	227	0	51	1	1	52	107	0	51	2		0	0	0	0	0	2	1	1	47	226	0	50	2								-19.999990	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BPNT1	10380	broad.mit.edu	37	1	220253166	220253166	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220253166A>G	ENST00000469520.2	-	3	472	c.23T>C	c.(22-24)tTg>tCg	p.L8S	BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1			14					CAACCGCATCAACACAGTGTT	0.398000																								0							SO:0001583	missense			ENST00000469520.2	1	1	hg19	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728609	0.69074	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.51	5.51	0.81932	.	0.145283	0.42172	D	0.000758	D	0.93716	0.7992	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.91635	0.965;0.998;0.999	D	0.94960	0.8107	10	0.87932	D	0	.	14.6341	0.68676	1.0:0.0:0.0:0.0	.	8;8;8	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	S	8	ENSP00000318852:L8S;ENSP00000446828:L8S;ENSP00000346862:L8S;ENSP00000410348:L8S;ENSP00000446953:L8S;ENSP00000446850:L8S;ENSP00000449883:L8S	ENSP00000307087:L8S	L	-	2	0	BPNT1	218319789	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	7.179000	0.77665	2.112000	0.64535	0.472000	0.43445	TTG		TCGA-IB-7651-01A-11D-2154-08	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	1	0	1	52	258	0	61	1	9.999928e-01	26	64	0	61	2		0	0	0	0	0	2	1	1	51	255	0	61	2								-20.000000	1	1	0	0		1	1	3	4	2.193440	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB3GAP2	25782	broad.mit.edu	37	1	220384297	220384297	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220384297C>A	ENST00000358951.2	-	5	550	c.434G>T	c.(433-435)aGg>aTg	p.R145M		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)			39					TTATCCTTACCTCTTTTGGCT	0.353000																								0							SO:0001630	splice_region_variant			ENST00000358951.2	1	0	hg19	CCDS31028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.675595|4.675595	0.88445|0.88445	.|.	.|.	ENSG00000118873|ENSG00000118873	ENST00000484658|ENST00000358951	.|T	.|0.34859	.|1.34	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46580|0.46580	0.1400|0.1400	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.74674	.|0.98;0.984	T|T	0.34104|0.34104	-0.9842|-0.9842	5|9	.|.	.|.	.|.	.|.	18.5392|18.5392	0.91022|0.91022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;145	.|Q9H2M9-2;Q9H2M9	.|.;RBGPR_HUMAN	D|M	46|145	.|ENSP00000351832:R145M	.|.	E|R	-|-	3|2	2|0	RAB3GAP2|RAB3GAP2	218450920|218450920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.136000|7.136000	0.77285|0.77285	2.559000|2.559000	0.86315|0.86315	0.460000|0.460000	0.39030|0.39030	GAG|AGG		TCGA-IB-7651-01A-11D-2154-08	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	1	0	1	21	129	0	35	0	9.933406e-01	0	53	0	35	2		0	0	0	0	0	2	1	9.999982e-01	21	126	0	34	2								-3.333926	1	1	0	0		1						0.170000	2.060000									0	0
USP48	84196	broad.mit.edu	37	1	22078012	22078012	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22078012C>A	ENST00000308271.9	-	6	1410	c.762G>T	c.(760-762)tcG>tcT	p.S254S	USP48_ENST00000529637.1_Silent_p.S254S|USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000400301.1_Silent_p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	p.S254S(1)		42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			TCAAAAATTCCGAGATACAAT	0.358000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000308271.9	0	1	hg19	CCDS30623.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	0	0	0	8	434	0	115	1	8.495780e-01	5	183	0	115	2		0	0	0	0	0	2	1	9.884785e-01	8	424	0	115	2								-2.209972	0	0	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.200000	0.090000	0.360000	0.190000	0.213388	0.200000	0	1.300000e-01	2.800000e-01
MARK1	4139	broad.mit.edu	37	1	220804392	220804392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220804392C>T	ENST00000366917.4	+	10	1191	c.925C>T	c.(925-927)Cga>Tga	p.R309*	MARK1_ENST00000402574.1_Nonsense_Mutation_p.R174*|HDAC1P2_ENST00000602936.1_RNA|MARK1_ENST00000366918.4_Nonsense_Mutation_p.R287*					MAP/microtubule affinity-regulating kinase 1			63					AATGAAAGATCGATGGATGAA	0.328000																								0							SO:0001587	stop_gained			ENST00000366917.4	0	1	hg19	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	44	10.904794	0.99486	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.78	5.78	0.91487	.	0.068862	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	174;287;309	.	ENSP00000355884:R309X	R	+	1	2	MARK1	218871015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.894000	0.99253	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1	1	0	0	15	289	0	46	0	7.941992e-02	0	9	0	46	2		0	0	0	0	0	2	1	9.998629e-01	14	284	0	46	2								-2.996843	1	1	0	0		1	2	2	4	2.271400	1	0.170000	2.060000	2.758681e-01	0.700000	0.400000	1.000000	1.000000	0.728501	0.700000	0	5.300000e-01	9.900000e-01
HLX	3142	broad.mit.edu	37	1	221057562	221057562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221057562G>A	ENST00000366903.6	+	4	2484	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox			32					CAGAACCGGCGGATGAAGTGG	0.637000																								0							SO:0001583	missense			ENST00000366903.6	1	1	hg19	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825551	0.96996	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.99298	-5.48;-5.71;-5.48	4.9	4.9	0.64082	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.111005	0.36374	N	0.002634	D	0.99641	0.9868	H	0.97103	3.94	0.52099	D	0.999946	D	0.89917	1.0	D	0.97110	1.0	D	0.97532	1.0080	10	0.87932	D	0	-26.9734	17.218	0.86949	0.0:0.0:1.0:0.0	.	328	Q14774	HLX_HUMAN	Q	328;61;114	ENSP00000355870:R328Q;ENSP00000408248:R61Q;ENSP00000449882:R114Q	ENSP00000355870:R328Q	R	+	2	0	HLX	219124185	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.358000	0.97109	2.443000	0.82685	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	1	0	1	70	205	0	37	0	9.999999e-01	0	75	0	37	2		0	0	0	0	0	2	1	1	68	192	0	35	2								-4.714971	1	1	0	0		1	2	2	4	2.271400	1	0.170000	2.060000	2.758681e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LDLRAD2	401944	broad.mit.edu	37	1	22140902	22140902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140902G>A	ENST00000344642.2	+	2	284	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.E33K	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2			6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)			CGACCTGGCGGAACTGTGCGG	0.692000																								0							SO:0001583	missense			ENST00000344642.2	0	1	hg19	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982013	0.53827	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.47869	0.83;0.83	4.28	1.21	0.21127	.	0.392379	0.20423	N	0.092625	T	0.24314	0.0589	N	0.08118	0	0.29724	N	0.838387	B	0.06786	0.001	B	0.09377	0.004	T	0.12502	-1.0545	10	0.56958	D	0.05	-1.406	7.3921	0.26915	0.0969:0.3537:0.5494:0.0	.	33	Q5SZI1	LRAD2_HUMAN	K	33	ENSP00000340988:E33K;ENSP00000444097:E33K	ENSP00000340988:E33K	E	+	1	0	LDLRAD2	22013489	1.000000	0.71417	0.948000	0.38648	0.523000	0.34469	2.647000	0.46639	0.075000	0.16796	0.297000	0.19635	GAA		TCGA-IB-7651-01A-11D-2154-08	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	0	0	0	6	115	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.624820e-01	6	111	0	20	2								-9.707706	1	0	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.520000	0.220000	0.900000	0.500000	0.548781	0.520000	0	3.500000e-01	7.300000e-01
LDLRAD2	401944	broad.mit.edu	37	1	22140961	22140961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140961G>A	ENST00000344642.2	+	2	343	c.156G>A	c.(154-156)tcG>tcA	p.S52S	LDLRAD2_ENST00000543870.1_Silent_p.S52S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2			6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)			ACGCCGCATCGCGCAGGTTCT	0.706000																								0							SO:0001819	synonymous_variant			ENST00000344642.2	1	1	hg19	CCDS30624.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	1	0	0	60	188	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	60	183	0	40	2								-20.000000	1	0	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980841	0.980000	1	9.500000e-01	1
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22162127G>T	ENST00000374695.3	-	76	10438	c.10359C>A	c.(10357-10359)atC>atA	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2			127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000374695.3	1	1	hg19	CCDS30625.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	1	0	0	12	142	0	36	1	1	56	622	0	36	2		0	0	0	0	0	2	1	9.991410e-01	12	139	0	36	2								-17.203630	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.760000	0.440000	0.980000	0.790000	0.754141	0.760000	0	5.900000e-01	9.100000e-01
DUSP10	11221	broad.mit.edu	37	1	221875948	221875948	+	Missense_Mutation	SNP	C	C	T	rs116590328	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221875948C>T	ENST00000366899.3	-	4	1493	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I|DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10			36					TAAGCGATGACGATGGTGGCG	0.488000																								0							SO:0001583	missense			ENST00000366899.3	1	1	hg19	CCDS1528.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.5	4.639782	0.87760	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	T;T;T	0.62232	0.04;0.04;0.04	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	L	0.48877	1.53	0.80722	D	1	P	0.50066	0.931	B	0.38921	0.285	T	0.65138	-0.6241	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	419	Q9Y6W6	DUS10_HUMAN	I	419;364;77;77	ENSP00000355866:V419I;ENSP00000322015:V77I;ENSP00000441302:V77I	ENSP00000322015:V77I	V	-	1	0	DUSP10	219942571	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	1	0	0	43	516	0	110	1	9.801067e-01	11	65	0	110	2		0	0	0	0	0	2	1	1	42	508	0	109	2								-11.124790	1	1	121412	6	41	1	2	2	4	2.271400	1	0.170000	2.060000	2.758681e-01	0.990000	0.770000	1.000000	1.000000	0.966862	0.990000	1	9.000000e-01	1
DUSP10	11221	broad.mit.edu	37	1	221913078	221913078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221913078C>T	ENST00000366899.3	-	2	247	c.9G>A	c.(7-9)ccG>ccA	p.P3P	DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	p.P3P(1)		36					CTAAAGGAGACGGAGGCATGA	0.483000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000366899.3	1	1	hg19	CCDS1528.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	1	0	0	30	356	0	79	1	9.470450e-01	3	57	0	79	2		0	0	0	0	0	2	1	1	29	344	0	79	2								-3.318794	1	1	121402	2	35	1	2	2	4	2.271400	1	0.170000	2.060000	2.758681e-01	0.990000	0.730000	1.000000	1.000000	0.962358	0.990000	1	8.900000e-01	1
HSPG2	3339	broad.mit.edu	37	1	22222460	22222460	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22222460C>A	ENST00000374695.3	-	3	279		c.e3-1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2			127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Palifermin(DB00039)	CCCAGGTCGTCTATAAGCAAA	0.552000																								0							SO:0001630	splice_region_variant			ENST00000374695.3	1	1	hg19	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	6.097	0.386085	0.11524	.	.	ENSG00000142798	ENST00000374695;ENST00000412328;ENST00000439717	.	.	.	4.72	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0717	0.42337	0.2007:0.7993:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22095047	1.000000	0.71417	0.944000	0.38274	0.062000	0.15995	3.531000	0.53546	1.192000	0.43071	-0.195000	0.12781	.		TCGA-IB-7651-01A-11D-2154-08	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	1	0	1	32	117	0	34	0	4.888463e-02	0	2	0	34	2		0	0	0	0	0	2	1	1	32	115	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.959969	0.960000	1	9.100000e-01	1
HHIPL2	79802	broad.mit.edu	37	1	222713615	222713615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222713615C>T	ENST00000343410.6	-	4	1245	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2			59					CGAGGGGACTCGGTACCGCTT	0.542000																								0							SO:0001583	missense			ENST00000343410.6	1	1	hg19	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751619	0.31046	.	.	ENSG00000143512	ENST00000343410	T	0.11495	2.77	4.95	4.04	0.47022	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.211701	0.40554	N	0.001068	T	0.11024	0.0269	L	0.58669	1.825	0.34984	D	0.754342	P	0.35959	0.53	B	0.31101	0.124	T	0.21143	-1.0254	10	0.23302	T	0.38	-5.2665	12.7244	0.57162	0.0:0.9191:0.0:0.0809	.	396	Q6UWX4	HIPL2_HUMAN	Q	396	ENSP00000342118:R396Q	ENSP00000342118:R396Q	R	-	2	0	HHIPL2	220780238	0.763000	0.28462	0.933000	0.37362	0.650000	0.38633	1.408000	0.34668	1.058000	0.40530	0.313000	0.20887	CGA		TCGA-IB-7651-01A-11D-2154-08	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	1	0	1	128	365	0	85	0	0	0	1	0	85	2		0	0	0	0	0	2	1	1	126	361	0	83	2								-6.301014	1	1	121412	2	33	1	2	2	4	2.271400	1	0.170000	2.060000	2.758681e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HHIPL2	79802	broad.mit.edu	37	1	222721298	222721298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222721298A>G	ENST00000343410.6	-	1	147	c.89T>C	c.(88-90)aTa>aCa	p.I30T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2			59					CAACAAGAATATGAGGCAGAG	0.592000																								0							SO:0001583	missense			ENST00000343410.6	1	1	hg19	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	A	7.774	0.708145	0.15239	.	.	ENSG00000143512	ENST00000343410	T	0.18960	2.18	4.79	-2.02	0.07388	.	1.115640	0.06652	N	0.762871	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.10111	T	0.7	1.0583	8.3151	0.32095	0.7117:0.0:0.2883:0.0	.	30	Q6UWX4	HIPL2_HUMAN	T	30	ENSP00000342118:I30T	ENSP00000342118:I30T	I	-	2	0	HHIPL2	220787921	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	-0.261000	0.08694	-0.186000	0.10533	-0.337000	0.08149	ATA		TCGA-IB-7651-01A-11D-2154-08	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	1	0	1	51	223	0	43	0	9.414173e-02	0	3	0	43	2		0	0	0	0	0	2	1	1	51	216	0	42	2								-20.000000	1	1	0	0		1	2	2	4	2.271400	1	0.170000	2.060000	2.758681e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF1A	9015	broad.mit.edu	37	1	222732018	222732018	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222732018A>G	ENST00000352967.4	-	11	1525	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	TAF1A_ENST00000350027.4_Missense_Mutation_p.V446A|TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A|TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa			18					TCTTGGATTTACAATACTGTA	0.308000																								0							SO:0001583	missense			ENST00000352967.4	1	1	hg19	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	A	7.948	0.744260	0.15710	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882	T;T	0.56444	0.46;0.46	5.34	3.01	0.34805	.	0.556195	0.17612	N	0.168045	T	0.40067	0.1102	L	0.41824	1.3	0.54753	D	0.999988	B	0.10296	0.003	B	0.11329	0.006	T	0.13872	-1.0493	10	0.35671	T	0.21	-3.4905	7.0501	0.25069	0.8182:0.0:0.1818:0.0	.	446	Q15573	TAF1A_HUMAN	A	332;446;446;332	ENSP00000339976:V446A;ENSP00000327072:V446A	ENSP00000339976:V446A	V	-	2	0	TAF1A	220798641	0.997000	0.39634	0.602000	0.28890	0.033000	0.12548	1.436000	0.34980	0.426000	0.26116	0.533000	0.62120	GTA		TCGA-IB-7651-01A-11D-2154-08	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	1	0	1	38	184	0	43	1	9.373038e-01	6	19	0	43	2		0	0	0	0	0	2	1	1	38	180	0	43	2								-19.971110	1	1	0	0		1	2	2	4	2.271400	1	0.170000	2.060000	2.758681e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MIA3	375056	broad.mit.edu	37	1	222818937	222818937	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222818937T>C	ENST00000344922.5	+	7	3544	c.3519T>C	c.(3517-3519)gaT>gaC	p.D1173D	MIA3_ENST00000340535.7_Silent_p.D51D|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3			80					CTGGGCCTGATTTTTATGGAC	0.378000																								0							SO:0001819	synonymous_variant			ENST00000344922.5	0	1	hg19	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.260406	0.23051	.	.	ENSG00000154305	ENST00000354906	.	.	.	5.99	0.951	0.19579	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38802	-0.9644	4	.	.	.	.	6.0638	0.19852	0.0:0.2641:0.1497:0.5862	.	.	.	.	L	756	.	.	F	+	1	0	MIA3	220885560	0.992000	0.36948	0.723000	0.30687	0.984000	0.73092	0.092000	0.15066	-0.089000	0.12484	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	0	0	0	48	97	0	36	1	1	53	120	0	36	2		0	0	0	0	0	2	1	1	47	97	0	36	2								-20.000000	1	1	0	0		1	2	2	4	2.271400	1	0.170000	2.060000	2.758681e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DISP1	84976	broad.mit.edu	37	1	223176548	223176548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223176548C>T	ENST00000284476.6	+	8	1973	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)			69					CCTTGCAGCACGCTGCCCTCT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000284476.6	1	1	hg19	CCDS1536.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	1	0	0	56	517	0	99	0	6.734364e-01	0	23	0	99	2		0	0	0	0	0	2	1	1	55	510	0	98	2								-17.023580	1	1	121412	10	44	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.950000	1.000000	1.000000	0.997570	0.990000	1	9.900000e-01	1
DISP1	84976	broad.mit.edu	37	1	223178682	223178682	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178682C>A	ENST00000284476.6	+	8	4107	c.3943C>A	c.(3943-3945)Ctg>Atg	p.L1315M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)			69					CGTGGCACCTCTGAAGGCCAC	0.592000																								0							SO:0001583	missense			ENST00000284476.6	1	1	hg19	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894442	0.17613	.	.	ENSG00000154309	ENST00000284476	D	0.94046	-3.34	5.7	4.79	0.61399	.	0.600559	0.16431	N	0.214719	D	0.88224	0.6379	L	0.29908	0.895	0.09310	N	1	B	0.34103	0.437	B	0.35353	0.201	T	0.80578	-0.1320	10	0.42905	T	0.14	-5.5401	9.0276	0.36239	0.155:0.7684:0.0:0.0766	.	1315	Q96F81	DISP1_HUMAN	M	1315	ENSP00000284476:L1315M	ENSP00000284476:L1315M	L	+	1	2	DISP1	221245305	0.074000	0.21230	0.148000	0.22405	0.349000	0.29174	0.348000	0.20031	1.410000	0.46936	-0.140000	0.14226	CTG		TCGA-IB-7651-01A-11D-2154-08	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	1	0	1	73	386	0	130	1	9.317475e-01	3	23	0	130	2		0	0	0	0	0	2	1	1	70	377	0	129	2								-3.324811	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DISP1	84976	broad.mit.edu	37	1	223178953	223178953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178953C>T	ENST00000284476.6	+	8	4378	c.4214C>T	c.(4213-4215)aCg>aTg	p.T1405M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	p.T1405M(1)		69					TTACTCAAAACGTGTTGCGAC	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000284476.6	0	1	hg19	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242354	0.22796	.	.	ENSG00000154309	ENST00000284476	D	0.91577	-2.87	5.95	3.07	0.35406	.	0.792616	0.12004	N	0.508572	T	0.79747	0.4499	N	0.14661	0.345	0.09310	N	1	B	0.28998	0.23	B	0.24974	0.057	T	0.69405	-0.5154	10	0.59425	D	0.04	-8.4933	3.9118	0.09207	0.1214:0.5099:0.2353:0.1335	.	1405	Q96F81	DISP1_HUMAN	M	1405	ENSP00000284476:T1405M	ENSP00000284476:T1405M	T	+	2	0	DISP1	221245576	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	0.189000	0.17037	0.415000	0.25817	-0.119000	0.15052	ACG		TCGA-IB-7651-01A-11D-2154-08	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	0	0	0	10	362	0	90	0	2.108944e-01	1	28	0	90	2		0	0	0	0	0	2	1	9.965290e-01	10	353	0	90	2								-3.169023	1	1	121412	2	33	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.350000	0.180000	0.600000	0.330000	0.372153	0.350000	0	2.500000e-01	4.800000e-01
TLR5	7100	broad.mit.edu	37	1	223284113	223284113	+	Missense_Mutation	SNP	A	A	C	rs150499113		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223284113A>C	ENST00000540964.1	-	4	2722	c.2261T>G	c.(2260-2262)aTc>aGc	p.I754S	TLR5_ENST00000342210.6_Missense_Mutation_p.I754S			O60602	TLR5_HUMAN	toll-like receptor 5			32					AAGACAAACGATCTTTCTACT	0.473000																								0							SO:0001583	missense			ENST00000540964.1	1	1	hg19	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	A	9.988	1.229929	0.22542	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.02446	4.29;4.29;4.29	5.81	0.124	0.14714	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.406828	0.23030	N	0.052754	T	0.02649	0.0080	N	0.21282	0.65	0.09310	N	0.999992	B	0.14438	0.01	B	0.25987	0.065	T	0.41734	-0.9492	10	0.72032	D	0.01	.	10.65	0.45642	0.2819:0.0:0.7181:0.0	.	754	O60602	TLR5_HUMAN	S	754	ENSP00000440643:I754S;ENSP00000355846:I754S;ENSP00000340089:I754S	ENSP00000340089:I754S	I	-	2	0	TLR5	221350736	0.990000	0.36364	0.000000	0.03702	0.361000	0.29550	2.851000	0.48302	0.028000	0.15324	-0.280000	0.10049	ATC		TCGA-IB-7651-01A-11D-2154-08	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1	66	239	0	58	0	9.937588e-01	0	31	0	58	2		0	0	0	0	0	2	1	1	66	234	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLR5	7100	broad.mit.edu	37	1	223285335	223285335	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223285335G>T	ENST00000540964.1	-	4	1500	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	TLR5_ENST00000342210.6_Missense_Mutation_p.L347I			O60602	TLR5_HUMAN	toll-like receptor 5			32					TCCCCCAGAAGGTTATATGAC	0.363000																								0							SO:0001583	missense			ENST00000540964.1	1	1	hg19	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734583	0.69189	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.57907	0.37;0.37;0.37	5.4	5.4	0.78164	.	0.068294	0.64402	D	0.000019	T	0.64972	0.2647	L	0.48260	1.515	0.58432	D	0.999991	D	0.76494	0.999	D	0.83275	0.996	T	0.65496	-0.6154	10	0.56958	D	0.05	.	12.5837	0.56406	0.076:0.0:0.9239:0.0	.	347	O60602	TLR5_HUMAN	I	347	ENSP00000440643:L347I;ENSP00000355846:L347I;ENSP00000340089:L347I	ENSP00000340089:L347I	L	-	1	0	TLR5	221351958	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	5.120000	0.64685	2.537000	0.85549	0.644000	0.83932	CTT		TCGA-IB-7651-01A-11D-2154-08	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	102	533	0	112	1	9.144080e-01	2	22	0	112	2		0	0	0	0	0	2	1	1	101	523	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUSD4	55061	broad.mit.edu	37	1	223441990	223441990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223441990G>A	ENST00000343846.3	-	3	1022	c.389C>T	c.(388-390)gCt>gTt	p.A130V	SUSD4_ENST00000484758.2_Missense_Mutation_p.A59V|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V|SUSD4_ENST00000494793.2_Missense_Mutation_p.A130V|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V			Q5VX71	SUSD4_HUMAN	sushi domain containing 4			17					ATGAATCTCAGCATCTTCGAT	0.388000																								0							SO:0001583	missense			ENST00000343846.3	1	1	hg19	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966494	0.92855	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.66995	-0.24;-0.24;-0.24	5.91	5.91	0.95273	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47852	D	0.000205	T	0.76659	0.4018	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.993;0.987;0.999	T	0.76260	-0.3024	10	0.54805	T	0.06	-17.2517	19.2811	0.94053	0.0:0.0:1.0:0.0	.	59;130;130	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	V	130;130;59;130;130	ENSP00000344219:A130V;ENSP00000355843:A130V;ENSP00000339926:A130V	ENSP00000271787:A130V	A	-	2	0	SUSD4	221508613	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.463000	0.80869	2.802000	0.96397	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	1	0	1	111	368	0	93	0	9.620752e-01	0	20	0	93	2		0	0	0	0	0	2	1	1	109	362	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUSD4	55061	broad.mit.edu	37	1	223465901	223465901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223465901C>A	ENST00000343846.3	-	2	874	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S|SUSD4_ENST00000494793.2_Missense_Mutation_p.A81S|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4			17					TGAAATCGGGCTACAGAGCCT	0.512000																								0							SO:0001583	missense			ENST00000343846.3	1	1	hg19	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831577	0.50845	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.65916	-0.18;-0.18;-0.18	5.36	-1.69	0.08186	Complement control module (2);Sushi/SCR/CCP (3);	0.782085	0.11216	N	0.587210	T	0.51736	0.1692	L	0.56280	1.765	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.15484	0.003;0.013	T	0.46048	-0.9219	10	0.87932	D	0	-9.9019	6.24	0.20785	0.1737:0.5783:0.0:0.248	.	81;81	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	S	81	ENSP00000344219:A81S;ENSP00000355843:A81S;ENSP00000339926:A81S	ENSP00000271787:A81S	A	-	1	0	SUSD4	221532524	0.949000	0.32298	0.931000	0.37212	0.952000	0.60782	0.340000	0.19892	-0.230000	0.09840	-0.340000	0.08031	GCC		TCGA-IB-7651-01A-11D-2154-08	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	1	0	1	224	539	0	101	0	4.594034e-01	0	5	0	101	2		0	0	0	0	0	2	1	1	220	533	0	101	2								-12.720020	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf65	0	broad.mit.edu	37	1	223567616	223567616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223567616C>T	ENST00000366875.3	+	1	902	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN				29					GCTGACCCGTCTCAAGAAGGC	0.632000																								0							SO:0001583	missense			ENST00000366875.3	1	1	hg19	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310041	0.23821	.	.	ENSG00000178395	ENST00000366875	T	0.26223	1.75	4.79	4.79	0.61399	.	.	.	.	.	T	0.43456	0.1248	M	0.64997	1.995	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.21724	-1.0237	9	0.38643	T	0.18	.	9.0497	0.36369	0.0:0.8993:0.0:0.1007	.	267	Q8N715	CA065_HUMAN	F	267	ENSP00000355840:L267F	ENSP00000355840:L267F	L	+	1	0	C1orf65	221634239	1.000000	0.71417	0.429000	0.26710	0.146000	0.21551	2.764000	0.47613	2.161000	0.67846	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1	1	0	1	40	144	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	39	143	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TP53BP2	7159	broad.mit.edu	37	1	223983554	223983554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223983554C>T	ENST00000343537.7	-	13	2978	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.R767H|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2			29					TTCAGGCGGGCGCATGCTCAC	0.537000																								0							SO:0001583	missense			ENST00000343537.7	1	1	hg19	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606642	0.66558	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.50548	0.83;1.0;0.74	5.37	4.46	0.54185	Src homology-3 domain (1);	0.268229	0.43260	N	0.000590	T	0.46308	0.1386	L	0.48362	1.52	0.47584	D	0.999461	P;P	0.50943	0.94;0.94	P;P	0.45639	0.488;0.488	T	0.43956	-0.9359	10	0.44086	T	0.13	.	13.9612	0.64180	0.0:0.9267:0.0:0.0733	.	896;890	B4DG66;Q13625	.;ASPP2_HUMAN	H	767;896;129	ENSP00000375750:R767H;ENSP00000341957:R896H;ENSP00000375751:R129H	ENSP00000341957:R896H	R	-	2	0	TP53BP2	222050177	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.469000	0.53093	1.272000	0.44329	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	1	0	1	94	357	0	77	1	1	38	80	0	77	2	1	1	227	757	0	789	2	1	1	91	353	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42	998	broad.mit.edu	37	1	22417980	22417980	+	Silent	SNP	G	G	A	rs16826564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22417980G>A	ENST00000344548.3	+	7	797	c.546G>A	c.(544-546)ccG>ccA	p.P182P	CDC42_ENST00000421089.2_Silent_p.P224P|CDC42_ENST00000400259.1_Silent_p.P182P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42			12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)			CTCCAGAACCGAAGAAGAGCC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000344548.3	1	1	hg19	CCDS221.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	1	0	0	30	308	0	65	1	1	119	1054	0	65	2		0	0	0	0	0	2	1	1	30	304	0	64	2								-3.318793	1	1	121410	4	37	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.860000	0.630000	1.000000	0.930000	0.856916	0.860000	1	7.400000e-01	9.600000e-01
DEGS1	8560	broad.mit.edu	37	1	224380108	224380108	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224380108T>G	ENST00000323699.4	+	3	1066	c.900T>G	c.(898-900)ttT>ttG	p.F300L	DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1			10	Breast(184;0.193)				TGTATGATTTTGTGATGGATG	0.388000																								0							SO:0001583	missense			ENST00000323699.4	1	1	hg19	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.429825	0.83776	.	.	ENSG00000143753	ENST00000323699;ENST00000391877	T;T	0.55234	0.53;0.53	5.85	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.76793	-0.2828	9	.	.	.	.	7.8847	0.29642	0.0:0.2314:0.0:0.7686	.	300	O15121	DEGS1_HUMAN	L	300	ENSP00000316476:F300L;ENSP00000375749:F300L	.	F	+	3	2	DEGS1	222446731	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.652000	0.24888	1.038000	0.40049	0.459000	0.35465	TTT		TCGA-IB-7651-01A-11D-2154-08	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2	1	0	1	78	164	0	52	1	1	121	357	0	52	2		0	0	0	0	0	2	1	1	78	158	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WNT4	54361	broad.mit.edu	37	1	22447815	22447815	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22447815G>A	ENST00000290167.6	-	4	520	c.477C>T	c.(475-477)atC>atT	p.I159I	WNT4_ENST00000542383.1_Silent_p.I104I	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4			8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			CACCGTAGGCGATGTTGTCAG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000290167.6	1	1	hg19	CCDS223.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2	0	0	1	90	312	1	68	0	9.990809e-01	2	62	1	68	5		0	0	0	0	0	2	1	1	88	307	1	68	19								-4.277786	1	1	121412	2	34	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.987282	0.980000	1	9.600000e-01	1
WDR26	80232	broad.mit.edu	37	1	224599257	224599257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224599257G>A	ENST00000414423.2	-	7	1223	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.P197S	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26			18					GTATAACATGGGAACTGCCTC	0.333000																								0							SO:0001583	missense			ENST00000414423.2	1	1	hg19	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012648	0.93346	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	D;D	0.81499	-1.5;-1.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88197	0.2881	10	0.54805	T	0.06	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	328	Q9H7D7-2	.	S	344;197	ENSP00000408108:P344S;ENSP00000295024:P197S	ENSP00000295024:P197S	P	-	1	0	WDR26	222665880	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.695000	0.91970	0.563000	0.77884	CCA		TCGA-IB-7651-01A-11D-2154-08	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	1	0	1	33	278	0	58	1	1	27	226	0	58	2		0	0	0	0	0	2	1	1	33	271	0	58	2								-3.075758	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.960000	1.000000	1.000000	0.997387	0.990000	1	9.900000e-01	1
WDR26	80232	broad.mit.edu	37	1	224619244	224619244	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224619244A>C	ENST00000414423.2	-	3	755	c.562T>G	c.(562-564)Tct>Gct	p.S188A	WDR26_ENST00000366852.2_Missense_Mutation_p.S188A|WDR26_ENST00000295024.6_Missense_Mutation_p.S41A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26			18					GCATGAGGAGAATGCACTAAA	0.338000																								0							SO:0001583	missense			ENST00000414423.2	1	1	hg19	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943220	0.73672	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000366852;ENST00000445239	T;T	0.68624	-0.34;-0.06	5.59	5.59	0.84812	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.77103	2.36	0.50632	D	0.999889	B;B	0.29188	0.185;0.236	B;B	0.23716	0.032;0.048	T	0.64407	-0.6415	10	0.23302	T	0.38	.	15.7686	0.78146	1.0:0.0:0.0:0.0	.	188;188	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	A	188;41;188;41	ENSP00000408108:S188A;ENSP00000295024:S41A	ENSP00000295024:S41A	S	-	1	0	WDR26	222685867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.107000	0.71517	2.122000	0.65172	0.460000	0.39030	TCT		TCGA-IB-7651-01A-11D-2154-08	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	1	0	1	12	173	0	31	1	9.994688e-01	21	177	0	31	2		0	0	0	0	0	2	1	9.991310e-01	12	170	0	31	2								-5.682495	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.840000	0.460000	1.000000	1.000000	0.826304	0.840000	0	6.300000e-01	1
LBR	3930	broad.mit.edu	37	1	225591097	225591097	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:225591097G>A	ENST00000338179.2	-	14	1881	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_ENST00000272163.4_Missense_Mutation_p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor			22	Breast(184;0.165)				TACTCGTCACGAGCTTCTCGG	0.403000																								0							SO:0001583	missense			ENST00000338179.2	1	1	hg19	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760754	0.89932	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.99259	-5.64;-5.64	6.16	6.16	0.99307	Sterol reductase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97704	1.0186	10	0.87932	D	0	-21.4596	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	586	Q14739	LBR_HUMAN	C	586	ENSP00000272163:R586C;ENSP00000339883:R586C	ENSP00000272163:R586C	R	-	1	0	LBR	223657720	1.000000	0.71417	0.263000	0.24496	0.792000	0.44763	7.718000	0.84743	2.937000	0.99478	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	1	0	1	98	287	0	75	1	1	68	119	0	75	2		0	0	0	0	0	2	1	1	95	278	0	74	2								-5.603656	1	1	121412	1	33	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHX1	2052	broad.mit.edu	37	1	226027621	226027621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226027621C>A	ENST00000366837.4	+	6	1010	c.814C>A	c.(814-816)Ctt>Att	p.L272I	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)			28	Breast(184;0.197)				CGGGAGGTTTCTTGGCCTCAC	0.547000																								0							SO:0001583	missense			ENST00000366837.4	1	1	hg19	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435926	0.25813	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.62232	0.04;0.04	5.57	-6.85	0.01681	Alpha/beta hydrolase fold-1 (1);	0.643450	0.16488	N	0.212251	T	0.43919	0.1269	L	0.46741	1.465	0.09310	N	0.99999	B	0.23540	0.087	B	0.27076	0.076	T	0.43734	-0.9373	10	0.12103	T	0.63	-5.3139	9.0791	0.36540	0.0:0.4664:0.1095:0.424	.	272	P07099	HYEP_HUMAN	I	272	ENSP00000272167:L272I;ENSP00000355802:L272I	ENSP00000272167:L272I	L	+	1	0	EPHX1	224094244	0.481000	0.25941	0.000000	0.03702	0.002000	0.02628	0.763000	0.26517	-1.000000	0.03438	-0.423000	0.05987	CTT		TCGA-IB-7651-01A-11D-2154-08	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	1	0	0	70	670	0	144	1	1	19	250	0	144	2		0	0	0	0	0	2	1	1	69	656	0	144	2								-19.122340	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.950000	1.000000	1.000000	0.997404	0.990000	1	9.900000e-01	1
LEFTY2	7044	broad.mit.edu	37	1	226127113	226127113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226127113C>T	ENST00000366820.5	-	3	1033	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2			16	Breast(184;0.197)				TCCCCAAGCCCGGCTGGCGCC	0.692000													Colon(172;116 2643 9098 43333)											0							SO:0001583	missense			ENST00000366820.5	1	1	hg19	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	c	7.488	0.650146	0.14516	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.68331	-0.08;-0.32	4.47	2.49	0.30216	.	0.699335	0.14840	N	0.295316	T	0.37625	0.1010	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.12041	-1.0563	10	0.20046	T	0.44	.	2.3429	0.04264	0.2456:0.4717:0.0:0.2827	.	195;229	E9PDM4;O00292	.;LFTY2_HUMAN	R	195;229	ENSP00000388009:G195R;ENSP00000355785:G229R	ENSP00000355785:G229R	G	-	1	0	LEFTY2	224193736	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.028000	0.12350	0.952000	0.37798	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	1	0	0	41	126	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	1	41	120	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LEFTY2	7044	broad.mit.edu	37	1	226128787	226128787	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226128787G>A	ENST00000366820.5	-	1	402	c.54C>T	c.(52-54)ccC>ccT	p.P18P	LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Silent_p.P18P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2			16	Breast(184;0.197)				GGGCCGCCCCGGGGCCAGCCA	0.711000													Colon(172;116 2643 9098 43333)											0							SO:0001819	synonymous_variant			ENST00000366820.5	1	1	hg19	CCDS1549.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	1	0	0	35	85	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	1	34	83	0	14	2								-20.000000	1	1	119786	3	29	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACBD3	64746	broad.mit.edu	37	1	226347059	226347059	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226347059C>A	ENST00000366812.5	-	5	783	c.729G>T	c.(727-729)aaG>aaT	p.K243N	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3			20	Breast(184;0.158)				TTATCTGCTGCCTAAAAACAT	0.388000																								0							SO:0001630	splice_region_variant			ENST00000366812.5	1	0	hg19	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818545	0.71028	.	.	ENSG00000182827	ENST00000366812	T	0.47869	0.83	5.73	5.73	0.89815	.	0.095038	0.64402	D	0.000001	T	0.70937	0.3281	M	0.77820	2.39	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.72984	-0.4125	10	0.72032	D	0.01	.	19.8989	0.96978	0.0:1.0:0.0:0.0	.	243	Q9H3P7	GCP60_HUMAN	N	243	ENSP00000355777:K243N	ENSP00000355777:K243N	K	-	3	2	ACBD3	224413682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.500000	0.60387	2.706000	0.92434	0.555000	0.69702	AAG		TCGA-IB-7651-01A-11D-2154-08	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	1	0	0	59	323	0	69	1	1	20	210	0	69	2		0	0	0	0	0	2	1	1	57	318	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MIXL1	83881	broad.mit.edu	37	1	226413401	226413401	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413401A>G	ENST00000366810.5	+	2	651	c.587A>G	c.(586-588)gAc>gGc	p.D196G	MIXL1_ENST00000557734.1_Intron|MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox			1	Breast(184;0.158)				GGCATCTCTGACTCTAGCTCC	0.512000													Pancreas(72;1302 1881 20981 22800)											0							SO:0001583	missense			ENST00000366810.5	1	1	hg19	CCDS1552.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.341473	0.24339	.	.	ENSG00000185155	ENST00000542034;ENST00000366810	T;T	0.15718	2.4;2.4	5.73	1.64	0.23874	.	0.898506	0.09278	N	0.824101	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41538	-0.9503	10	0.19590	T	0.45	-1.7763	3.934	0.09298	0.6419:0.0:0.1909:0.1672	.	196	Q9H2W2	MIXL1_HUMAN	G	204;196	ENSP00000442439:D204G;ENSP00000355775:D196G	ENSP00000355775:D196G	D	+	2	0	MIXL1	224480024	0.001000	0.12720	0.003000	0.11579	0.956000	0.61745	0.696000	0.25541	0.413000	0.25759	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3	1	0	1	185	482	0	96	0	1.893127e-01	0	3	0	96	2		0	0	0	0	0	2	1	1	183	474	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MIXL1	83881	broad.mit.edu	37	1	226413512	226413512	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413512G>A	ENST00000366810.5	+	2	762	c.698G>A	c.(697-699)tGa>tAa	p.*233*	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.*241*			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox			1	Breast(184;0.158)				GGTAACTTTTGAGGATTCTGG	0.468000													Pancreas(72;1302 1881 20981 22800)											0							SO:0001819	synonymous_variant			ENST00000366810.5	0	1	hg19	CCDS1552.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091526.3	0	0	0	26	1012	0	162	0	9.721784e-03	0	6	0	162	2		0	0	0	0	0	2	1	9.999999e-01	25	989	0	162	2								-2.570574	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.320000	0.210000	0.450000	0.330000	0.330350	0.320000	0	2.600000e-01	3.900000e-01
LIN9	286826	broad.mit.edu	37	1	226454009	226454009	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226454009G>A	ENST00000328205.5	-	9	1434	c.889C>T	c.(889-891)Cca>Tca	p.P297S	LIN9_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component			28	Breast(184;0.158)				GCAGCAATTGGCATTGTCTCA	0.363000													Ovarian(197;1696 2974 11248 14117)											0							SO:0001583	missense			ENST00000328205.5	1	1	hg19	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005920	0.54254	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.33485	1.01	0.80722	D	1	B;B;P	0.37330	0.15;0.11;0.59	B;B;B	0.34180	0.027;0.057;0.177	T	0.39482	-0.9612	9	0.25106	T	0.35	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	262;281;431	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	S	257;297;352;246;262;431	.	ENSP00000329102:P297S	P	-	1	0	LIN9	224520632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.584000	0.90798	2.763000	0.94921	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	1	0	1	37	97	0	37	1	9.916373e-01	9	13	0	37	2		0	0	0	0	0	2	1	1	36	96	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP1	142	broad.mit.edu	37	1	226553752	226553752	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226553752A>G	ENST00000366794.5	-	18	2551	c.2408T>C	c.(2407-2409)gTg>gCg	p.V803A	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1			44	Breast(184;0.133)				TCTGTCAACCACCTGGATAAA	0.453000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																0							SO:0001630	splice_region_variant			ENST00000366794.5	1	0	hg19	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319665	0.60524	.	.	ENSG00000143799	ENST00000366794	T	0.13089	2.62	5.68	5.68	0.88126	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.43923	1.385	0.80722	D	1	P	0.39022	0.655	B	0.38327	0.271	T	0.04870	-1.0921	10	0.27082	T	0.32	.	15.9357	0.79704	1.0:0.0:0.0:0.0	.	803	P09874	PARP1_HUMAN	A	803	ENSP00000355759:V803A	ENSP00000355759:V803A	V	-	2	0	PARP1	224620375	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	8.253000	0.89842	2.177000	0.69029	0.528000	0.53228	GTG		TCGA-IB-7651-01A-11D-2154-08	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	1	0	1	48	167	0	37	1	1	139	224	0	37	2		0	0	0	0	0	2	1	1	46	164	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP1	142	broad.mit.edu	37	1	226566902	226566902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226566902G>A	ENST00000366794.5	-	12	1829	c.1686C>T	c.(1684-1686)atC>atT	p.I562I		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1			44	Breast(184;0.133)				TTCCTTTAACGATGTCCACCA	0.537000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																0							SO:0001819	synonymous_variant			ENST00000366794.5	1	1	hg19	CCDS1554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	1	0	0	194	558	0	139	1	1	131	227	0	139	2		0	0	0	0	0	2	1	1	192	549	0	135	2								-20.000000	1	1	121412	9	44	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP1	142	broad.mit.edu	37	1	226573298	226573298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226573298G>A	ENST00000366794.5	-	7	1061	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	p.S306S(1)		44	Breast(184;0.133)				AATAGGCATCGCTCTTGAAGA	0.567000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000366794.5	1	1	hg19	CCDS1554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	1	0	1	104	351	0	93	1	1	108	207	0	93	2		0	0	0	0	0	2	1	1	99	345	0	92	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP1	142	broad.mit.edu	37	1	226589969	226589969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226589969G>A	ENST00000366794.5	-	2	375	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	PARP1_ENST00000366792.1_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W|PARP1_ENST00000366791.5_Missense_Mutation_p.R78W	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1			44	Breast(184;0.133)				TCATCCCACCGAAGCTCAGAG	0.567000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																0							SO:0001583	missense			ENST00000366794.5	1	1	hg19	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333371	0.81801	.	.	ENSG00000143799	ENST00000432338;ENST00000366794;ENST00000366792;ENST00000366791;ENST00000366790	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.2	3.25	0.37280	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80450	-0.1377	10	0.87932	D	0	.	14.6497	0.68786	0.0:0.0:0.797:0.203	.	78	P09874	PARP1_HUMAN	W	78	ENSP00000355759:R78W;ENSP00000355757:R78W;ENSP00000355756:R78W;ENSP00000355755:R78W	ENSP00000355755:R78W	R	-	1	2	PARP1	224656592	1.000000	0.71417	0.556000	0.28293	0.987000	0.75469	4.067000	0.57527	0.486000	0.27676	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	1	0	1	67	353	0	71	1	1	90	247	0	71	2		0	0	0	0	0	2	1	1	66	350	0	71	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPKB	3707	broad.mit.edu	37	1	226834905	226834905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226834905C>T	ENST00000272117.3	-	3	2208	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	ITPKB_ENST00000429204.1_Missense_Mutation_p.D737N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B			30		Prostate(94;0.0773)			CAGGGCGAGTCGAAGTCGGCC	0.607000													Colon(84;110 1851 5306 33547)											0							SO:0001583	missense			ENST00000272117.3	1	1	hg19	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802088	0.90538	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16597	2.33;2.33	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.71206	2.165	0.51767	D	0.999931	D	0.76494	0.999	D	0.66084	0.941	T	0.16394	-1.0404	10	0.48119	T	0.1	-13.0163	19.1764	0.93604	0.0:1.0:0.0:0.0	.	737	P27987	IP3KB_HUMAN	N	737	ENSP00000272117:D737N;ENSP00000411152:D737N	ENSP00000272117:D737N	D	-	1	0	ITPKB	224901528	1.000000	0.71417	0.961000	0.40146	0.986000	0.74619	5.847000	0.69451	2.540000	0.85666	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	1	0	0	28	362	0	60	0	8.023731e-01	0	41	0	60	2		0	0	0	0	0	2	1	1	28	357	0	59	2								-3.318798	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.920000	0.620000	1.000000	1.000000	0.895559	0.920000	1	7.600000e-01	1
ITPKB	3707	broad.mit.edu	37	1	226835049	226835049	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835049G>T	ENST00000272117.3	-	3	2064	c.2065C>A	c.(2065-2067)Ctg>Atg	p.L689M	ITPKB_ENST00000429204.1_Missense_Mutation_p.L689M			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B			30		Prostate(94;0.0773)			TGCTTCTTCAGGATCCTGCCA	0.602000													Colon(84;110 1851 5306 33547)											0							SO:0001583	missense			ENST00000272117.3	1	1	hg19	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660264	0.67586	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.16743	2.32;2.32	5.19	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.85630	2.765	0.49130	D	0.999755	D	0.89917	1.0	D	0.85130	0.997	T	0.53315	-0.8456	10	0.72032	D	0.01	-14.7074	14.6107	0.68514	0.0829:0.0:0.9171:0.0	.	689	P27987	IP3KB_HUMAN	M	689	ENSP00000272117:L689M;ENSP00000411152:L689M	ENSP00000272117:L689M	L	-	1	2	ITPKB	224901672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.320000	0.72876	2.429000	0.82318	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	1	0	1	18	153	0	33	0	7.913230e-01	0	27	0	33	2		0	0	0	0	0	2	1	9.999784e-01	18	144	0	31	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.840000	1.000000	1.000000	0.989926	0.990000	1	9.900000e-01	1
ITPKB	3707	broad.mit.edu	37	1	226835077	226835077	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835077A>C	ENST00000272117.3	-	3	2036	c.2037T>G	c.(2035-2037)agT>agG	p.S679R	ITPKB_ENST00000429204.1_Missense_Mutation_p.S679R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B			30		Prostate(94;0.0773)			CTGCCTTGAAACTCCCTGGAG	0.622000													Colon(84;110 1851 5306 33547)											0							SO:0001583	missense			ENST00000272117.3	1	1	hg19	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589483	0.66105	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14266	2.52;2.52	5.19	-3.39	0.04868	.	0.039060	0.85682	D	0.000000	T	0.27765	0.0683	M	0.61703	1.905	0.52099	D	0.999941	D	0.89917	1.0	D	0.73708	0.981	T	0.01977	-1.1236	10	0.72032	D	0.01	-15.5533	12.5148	0.56026	0.7588:0.0:0.2412:0.0	.	679	P27987	IP3KB_HUMAN	R	679	ENSP00000272117:S679R;ENSP00000411152:S679R	ENSP00000272117:S679R	S	-	3	2	ITPKB	224901700	0.028000	0.19301	0.987000	0.45799	0.809000	0.45718	-0.661000	0.05311	-0.545000	0.06224	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	1	0	0	24	95	0	21	1	9.891406e-01	4	28	0	21	2		0	0	0	0	0	2	1	9.999998e-01	22	94	0	20	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ITPKB	3707	broad.mit.edu	37	1	226925067	226925067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226925067G>A	ENST00000272117.3	-	1	92	c.93C>T	c.(91-93)agC>agT	p.S31S	ITPKB_ENST00000429204.1_Silent_p.S31S|ITPKB_ENST00000366784.1_Silent_p.S31S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B			30		Prostate(94;0.0773)			GGGGCGTCTCGCTGCCACTGG	0.662000													Colon(84;110 1851 5306 33547)											0							SO:0001819	synonymous_variant			ENST00000272117.3	0	1	hg19	CCDS1555.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	0	0	0	7	183	0	26	0	1.943005e-03	0	2	0	26	2		0	0	0	0	0	2	1	9.800973e-01	7	180	0	26	2								-9.781524	1	1	118622	2	32	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.490000	0.220000	0.890000	0.460000	0.521539	0.490000	0	3.300000e-01	6.900000e-01
PSEN2	5664	broad.mit.edu	37	1	227077790	227077790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227077790C>T	ENST00000366783.3	+	9	1278	c.842C>T	c.(841-843)gCc>gTc	p.A281V	PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000366782.1_Missense_Mutation_p.A314V	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2			20		Prostate(94;0.0771)			GTAGAAACTGCCCAGGAGAGA	0.582000																								0							SO:0001583	missense			ENST00000366783.3	1	1	hg19	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372828	0.95923	.	.	ENSG00000143801	ENST00000366783;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.89534	3.04	0.80722	D	1	P;D	0.71674	0.942;0.998	P;D	0.71414	0.855;0.973	D	0.96683	0.9505	10	0.87932	D	0	.	18.554	0.91077	0.0:1.0:0.0:0.0	.	281;281	A8K8D4;P49810	.;PSN2_HUMAN	V	281;281;108;314;314;137	ENSP00000355747:A281V;ENSP00000403737:A281V;ENSP00000427912:A108V;ENSP00000355746:A314V;ENSP00000375745:A314V;ENSP00000427806:A137V	ENSP00000355746:A314V	A	+	2	0	PSEN2	225144413	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.709000	0.84645	2.460000	0.83146	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	1	0	1	89	490	0	121	1	9.999990e-01	26	83	0	121	2		0	0	0	0	0	2	1	1	87	484	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42BPA	8476	broad.mit.edu	37	1	227210999	227210999	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227210999G>T	ENST00000366769.3	-	31	5766	c.4475C>A	c.(4474-4476)aCc>aAc	p.T1492N	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)			77		all_cancers(173;0.156)|Prostate(94;0.0792)			TAATCTAATGGTCTCCAACCC	0.274000																								0							SO:0001583	missense			ENST00000366769.3	1	1	hg19	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.864684|3.864684	0.71949|0.71949	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.66460	.|-0.17;-0.17;-0.18;-0.18;-0.21;-0.18;-0.16	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77046|0.77046	0.4073|0.4073	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;P;P;D	.|0.89917	.|1.0;0.981;0.984;0.683;0.999;0.868;0.793;1.0	.|D;P;P;B;D;B;B;D	.|0.85130	.|0.997;0.74;0.67;0.402;0.986;0.284;0.284;0.997	T|T	0.71094|0.71094	-0.4692|-0.4692	5|10	.|0.21540	.|T	.|0.41	.|.	19.3466|19.3466	0.94365|0.94365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1472;1464;807;389;1411;1492;1527;694	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	E|N	694;820;389;716|1492;1411;1492;1527;1464;807;1472;1505	.|ENSP00000355731:T1492N;ENSP00000355729:T1411N;ENSP00000335341:T1492N;ENSP00000355728:T1527N;ENSP00000355726:T1464N;ENSP00000443275:T1472N;ENSP00000355727:T1505N	.|ENSP00000335341:T1492N	D|T	-|-	3|2	2|0	CDC42BPA|CDC42BPA	225277622|225277622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.845000|8.845000	0.92153|0.92153	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAC|ACC		TCGA-IB-7651-01A-11D-2154-08	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	1	0	1	14	112	0	25	1	9.985826e-01	20	73	0	25	2		0	0	0	0	0	2	1	9.997900e-01	14	110	0	25	2								-19.982530	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.830000	1.000000	1.000000	0.989779	0.990000	1	9.900000e-01	1
CDC42BPA	8476	broad.mit.edu	37	1	227216862	227216862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227216862G>A	ENST00000366769.3	-	29	5114	c.3823C>T	c.(3823-3825)Cgt>Tgt	p.R1275C	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)			77		all_cancers(173;0.156)|Prostate(94;0.0792)			CGTACATGACGATTTCGTCCT	0.393000																								0							SO:0001583	missense			ENST00000366769.3	1	1	hg19	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809480|4.809480	0.90707|0.90707	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.05580|.	3.42;3.42;3.42;3.42;3.42;3.42;3.42|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.047547|.	0.85682|.	D|.	0.000000|.	T|T	0.78227|0.78227	0.4250|0.4250	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.72982|.	0.949;0.972;0.977;0.977;0.947;0.979;0.979;0.969|.	T|T	0.77988|0.77988	-0.2380|-0.2380	10|5	0.87932|.	D|.	0|.	.|.	19.3729|19.3729	0.94495|0.94495	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1255;1247;590;172;1194;1275;1310;477|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	C|L	1275;1194;1275;1310;1247;590;1255;1288|477;603;172;499	ENSP00000355731:R1275C;ENSP00000355729:R1194C;ENSP00000335341:R1275C;ENSP00000355728:R1310C;ENSP00000355726:R1247C;ENSP00000443275:R1255C;ENSP00000355727:R1288C|.	ENSP00000335341:R1275C|.	R|S	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225283485|225283485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.830000|7.830000	0.86741|0.86741	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	CGT|TCG		TCGA-IB-7651-01A-11D-2154-08	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	1	0	1	40	217	0	32	1	9.999982e-01	33	80	0	32	2		0	0	0	0	0	2	1	1	40	212	0	32	2								-3.093016	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CDC42BPA	8476	broad.mit.edu	37	1	227261640	227261640	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227261640T>C	ENST00000366769.3	-	19	3951	c.2660A>G	c.(2659-2661)gAt>gGt	p.D887G	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D806G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)			77		all_cancers(173;0.156)|Prostate(94;0.0792)			TATTTCTGCATCCAGAGCCGA	0.393000																								0							SO:0001583	missense			ENST00000366769.3	0	1	hg19	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776394	0.70107	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.74258	2.255	0.80722	D	1	D;D;B;D;B;B;D	0.76494	0.999;0.983;0.104;0.999;0.02;0.02;0.999	D;P;B;D;B;B;D	0.91635	0.998;0.857;0.143;0.986;0.03;0.03;0.999	T	0.67229	-0.5723	10	0.51188	T	0.08	.	15.9745	0.80049	0.0:0.0:0.0:1.0	.	887;887;151;806;887;887;89	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.	G	887;806;887;887;887;151;887;887	ENSP00000355731:D887G;ENSP00000355729:D806G;ENSP00000335341:D887G;ENSP00000355728:D887G;ENSP00000355726:D887G;ENSP00000443275:D887G;ENSP00000355727:D887G	ENSP00000335341:D887G	D	-	2	0	CDC42BPA	225328263	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.586000	0.82596	2.168000	0.68352	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	0	0	0	11	692	0	144	0	6.593370e-01	1	137	0	144	2		0	0	0	0	0	2	1	9.982073e-01	11	682	0	144	2								-8.055516	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.200000	0.100000	0.340000	0.210000	0.216261	0.200000	0	1.400000e-01	2.800000e-01
CDC42BPA	8476	broad.mit.edu	37	1	227333377	227333377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227333377C>T	ENST00000366769.3	-	8	2247	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)			77		all_cancers(173;0.156)|Prostate(94;0.0792)			AATGAGCCTTCGAATAAGATC	0.368000																								0							SO:0001583	missense			ENST00000366769.3	0	1	hg19	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773959	0.49786	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.17922	0.545	0.80722	D	1	D;D;P;B	0.76494	0.998;0.999;0.803;0.376	D;P;B;B	0.71870	0.975;0.809;0.147;0.065	T	0.61584	-0.7033	10	0.20046	T	0.44	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	319;319;319;319	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	Q	319	ENSP00000355731:R319Q;ENSP00000355729:R319Q;ENSP00000335341:R319Q;ENSP00000355728:R319Q;ENSP00000355726:R319Q;ENSP00000443275:R319Q;ENSP00000355727:R319Q	ENSP00000335341:R319Q	R	-	2	0	CDC42BPA	225400000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.086000	0.57664	2.805000	0.96524	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	0	0	0	11	367	0	74	1	8.708075e-01	7	117	0	74	2		0	0	0	0	0	2	1	9.982659e-01	11	362	0	73	2								-3.147729	1	1	121410	1	32	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.380000	0.200000	0.630000	0.360000	0.399630	0.380000	0	2.800000e-01	5.100000e-01
ZNF678	339500	broad.mit.edu	37	1	227843057	227843057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227843057G>T	ENST00000343776.5	+	4	1451	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	p.R369I(1)		24		Prostate(94;0.0885)			CAGCATAAAAGAATTCATACT	0.388000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000343776.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.832	0.720050	0.15372	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.24908	1.83;1.83	1.5	0.462	0.16695	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26557	0.0649	L	0.50333	1.59	0.45108	D	0.998124	P	0.40180	0.705	P	0.47346	0.544	T	0.03957	-1.0989	9	0.33141	T	0.24	.	6.2127	0.20638	0.1959:0.0:0.8041:0.0	.	369	Q5SXM1	ZN678_HUMAN	I	369;424	ENSP00000344828:R369I;ENSP00000440403:R424I	ENSP00000344828:R369I	R	+	2	0	ZNF678	225909680	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.192000	0.09587	-0.085000	0.12573	-0.283000	0.09986	AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	1	0	1	66	200	0	56	1	7.933931e-01	2	9	0	56	2		0	0	0	0	0	2	1	1	63	192	0	56	2								-20.000000	1	1	121386	3	34	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNAP47	116841	broad.mit.edu	37	1	227954674	227954674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227954674G>A	ENST00000366759.4	+	4	1552	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S|SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa			17					TGGGCTGATGGGCCGTACCCT	0.607000																								0							SO:0001583	missense			ENST00000366759.4	1	1	hg19	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.151|4.151	0.026409|0.026409	0.08054|0.08054	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000418653;ENST00000426344|ENST00000366760;ENST00000366759;ENST00000315781	.|T;T;T	.|0.43294	.|0.95;2.27;2.25	4.52|4.52	3.57|3.57	0.40892|0.40892	.|.	0.400770|0.400770	0.25040|0.25040	N|N	0.033613|0.033613	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;P	.|0.36535	.|0.301;0.408;0.301;0.557	.|B;B;B;B	.|0.31191	.|0.117;0.077;0.117;0.125	T|T	0.13575|0.13575	-1.0504|-1.0504	6|10	.|0.29301	.|T	.|0.29	-16.4939|-16.4939	9.3542|9.3542	0.38157|0.38157	0.0:0.0:0.7865:0.2135|0.0:0.0:0.7865:0.2135	.|.	.|380;192;380;138	.|Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4	.|SNP47_HUMAN;.;.;.	E|S	192;371|138;380;380	.|ENSP00000355722:G138S;ENSP00000355721:G380S;ENSP00000314157:G380S	.|ENSP00000314157:G380S	G|G	+|+	2|1	0|0	SNAP47|SNAP47	226021297|226021297	0.995000|0.995000	0.38212|0.38212	0.222000|0.222000	0.23844|0.23844	0.263000|0.263000	0.26337|0.26337	3.928000|3.928000	0.56506|0.56506	1.057000|1.057000	0.40506|0.40506	0.555000|0.555000	0.69702|0.69702	GGG|GGC		TCGA-IB-7651-01A-11D-2154-08	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	1	0	1	63	187	0	40	1	1	41	82	0	40	2		0	0	0	0	0	2	1	1	63	184	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WNT9A	7483	broad.mit.edu	37	1	228109546	228109546	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228109546G>T	ENST00000272164.5	-	4	781	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A			19		Prostate(94;0.0405)			CAGCTTCATTGGTGGTGCTGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000272164.5	1	1	hg19	CCDS31045.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	1	0	0	45	515	0	92	0	8.088930e-02	1	5	0	92	2		0	0	0	0	0	2	1	1	42	505	0	91	2								-2.879461	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.760000	1.000000	1.000000	0.959402	0.990000	1	8.800000e-01	1
WNT3A	89780	broad.mit.edu	37	1	228246984	228246984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228246984C>T	ENST00000284523.1	+	4	955	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A			12		Prostate(94;0.0405)			CTTCGGCACGCGCGACCGCAC	0.692000																								0							SO:0001583	missense			ENST00000284523.1	1	1	hg19	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216473	0.95104	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76839	-1.05;-1.05	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.67725	0.932;0.953	D	0.90820	0.4708	10	0.45353	T	0.12	.	17.9461	0.89039	0.0:1.0:0.0:0.0	.	293;293	P56704;Q3SY79	WNT3A_HUMAN;.	C	293	ENSP00000284523:R293C;ENSP00000355715:R293C	ENSP00000284523:R293C	R	+	1	0	WNT3A	226313607	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.783000	0.62403	2.300000	0.77407	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	1	0	1	20	58	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999976e-01	20	55	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARF1	375	broad.mit.edu	37	1	228285130	228285130	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228285130G>A	ENST00000541182.1	+	3	498	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ARF1_ENST00000540651.1_Missense_Mutation_p.R79H|ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|ARF1_ENST00000478424.1_3'UTR|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1			10		Prostate(94;0.0405)			CCCCTGTGGCGCCACTACTTC	0.602000																								0							SO:0001583	missense			ENST00000541182.1	1	1	hg19	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999806	0.54147	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.66638	-0.22;-0.22;-0.22	5.39	3.49	0.39957	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	T	0.70360	0.3215	M	0.89601	3.045	0.80722	D	1	B	0.29162	0.235	B	0.23716	0.048	T	0.75772	-0.3200	10	0.87932	D	0	-13.7481	12.3362	0.55069	0.1392:0.0:0.8608:0.0	.	79	P84077	ARF1_HUMAN	H	79	ENSP00000272102:R79H;ENSP00000442980:R79H;ENSP00000440005:R79H	ENSP00000272102:R79H	R	+	2	0	ARF1	226351753	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.575000	0.98187	1.521000	0.48983	-0.373000	0.07131	CGC		TCGA-IB-7651-01A-11D-2154-08	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	1	0	1	49	493	0	73	1	1	356	2954	0	73	2		0	0	0	0	0	2	1	1	48	488	0	73	2								-14.409570	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.989814	0.990000	1	9.900000e-01	1
ZBTB40	9923	broad.mit.edu	37	1	22832722	22832722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22832722C>T	ENST00000375647.4	+	6	1555	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	ZBTB40_ENST00000404138.1_Missense_Mutation_p.P450S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40			26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			AGCCACTTTGCCAAGCACCAC	0.488000																								0							SO:0001583	missense			ENST00000375647.4	1	1	hg19	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837604	0.32513	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.06	4.18	0.49190	.	0.114274	0.39615	N	0.001303	T	0.60077	0.2241	L	0.32530	0.975	0.20307	N	0.999912	B;B	0.32653	0.17;0.379	B;B	0.28139	0.082;0.086	T	0.54669	-0.8259	10	0.54805	T	0.06	-8.6573	8.3286	0.32173	0.0:0.7265:0.1308:0.1427	.	338;450	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	450;450;450;338	ENSP00000384527:P450S;ENSP00000364798:P450S;ENSP00000383098:P450S;ENSP00000363782:P338S	ENSP00000363782:P338S	P	+	1	0	ZBTB40	22705309	0.799000	0.28903	0.153000	0.22517	0.711000	0.40976	1.179000	0.31993	0.875000	0.35847	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	1	0	1	28	241	0	57	1	7.675133e-01	2	24	0	57	2		0	0	0	0	0	2	1	1	28	233	0	57	2								-11.662190	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.900000	0.680000	1.000000	0.990000	0.894833	0.900000	1	8.000000e-01	9.800000e-01
GJC2	57165	broad.mit.edu	37	1	228345534	228345534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345534G>T	ENST00000366714.2	+	2	250	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa			7		Prostate(94;0.0405)			TCGTGGGCAAGGTGTGGCTCA	0.647000																								0							SO:0001583	missense			ENST00000366714.2	1	1	hg19	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217468	0.58560	.	.	ENSG00000198835	ENST00000366714	D	0.99388	-5.81	4.23	2.32	0.28847	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	M	0.90870	3.155	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.99755	1.1019	10	0.87932	D	0	.	9.419	0.38539	0.1773:0.0:0.8227:0.0	.	25	Q5T442	CXG2_HUMAN	N	25	ENSP00000355675:K25N	ENSP00000355675:K25N	K	+	3	2	GJC2	226412157	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.502000	0.53332	0.422000	0.26005	0.491000	0.48974	AAG		TCGA-IB-7651-01A-11D-2154-08	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	1	0	0	16	72	0	15	1	8.351073e-01	5	12	0	15	2		0	0	0	0	0	2	1	9.999544e-01	14	72	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999938	0.990000	1	9.900000e-01	1
GJC2	57165	broad.mit.edu	37	1	228345635	228345635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345635G>A	ENST00000366714.2	+	2	351	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa			7		Prostate(94;0.0405)			TGCAACACGCGGCAGCCAGGC	0.642000																								0							SO:0001583	missense			ENST00000366714.2	1	1	hg19	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781455	0.16120	.	.	ENSG00000198835	ENST00000366714	D	0.99014	-5.33	4.23	4.23	0.50019	Connexin, conserved site (1);Connexin, N-terminal (2);	0.085302	0.40818	N	0.001014	D	0.93442	0.7908	N	0.02412	-0.56	0.32788	N	0.50156	D	0.53745	0.962	P	0.47626	0.552	D	0.93093	0.6501	10	0.02654	T	1	.	5.0104	0.14310	0.2671:0.0:0.7329:0.0	.	59	Q5T442	CXG2_HUMAN	Q	59	ENSP00000355675:R59Q	ENSP00000355675:R59Q	R	+	2	0	GJC2	226412258	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	6.008000	0.70739	2.204000	0.70986	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	1	0	0	40	130	0	30	1	9.987932e-01	16	21	0	30	2		0	0	0	0	0	2	1	1	39	130	0	29	2								-4.255741	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228437821	228437821	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228437821C>A	ENST00000422127.1	+	14	4233	c.4189C>A	c.(4189-4191)Cga>Aga	p.R1397R	OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000570156.2_Silent_p.R1489R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			CTCGAAAGTTCGAATGGAGGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	195	512	0	126	1	6.938075e-01	4	4	0	126	2		0	0	0	0	0	2	1	1	193	502	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228444434	228444434	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228444434C>T	ENST00000422127.1	+	15	4436	c.4392C>T	c.(4390-4392)tgC>tgT	p.C1464C	OBSCN_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000570156.2_Silent_p.C1556C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			CACTCAGCTGCGAGGTGGCTC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	14	309	0	57	0	2.251365e-03	0	2	0	57	2		0	0	0	0	0	2	1	9.997380e-01	14	303	0	56	2								-4.318687	1	1	120974	26	47	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.560000	0.320000	0.880000	0.540000	0.582726	0.560000	0	4.300000e-01	7.200000e-01
OBSCN	84033	broad.mit.edu	37	1	228456263	228456263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228456263G>T	ENST00000422127.1	+	17	4938	c.4894G>T	c.(4894-4896)Gca>Tca	p.A1632S	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1816S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GGAGCAGCCAGCACACAGGGA	0.627000																								0							SO:0001583	missense			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.074	0.381888	0.11524	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.60920	0.56;0.17;0.15	5.51	0.981	0.19756	Immunoglobulin-like (1);	0.182299	0.34156	N	0.004201	T	0.50309	0.1608	L	0.61218	1.895	0.19300	N	0.99998	B;P;B	0.42123	0.392;0.771;0.42	B;P;B	0.44422	0.262;0.449;0.205	T	0.43261	-0.9402	10	0.10636	T	0.68	.	7.8376	0.29378	0.2147:0.0:0.6674:0.118	.	1632;78;1632	Q5VST9;Q24JT4;Q5VST9-3	OBSCN_HUMAN;.;.	S	1632;1632;288	ENSP00000284548:A1632S;ENSP00000409493:A1632S;ENSP00000352613:A288S	ENSP00000284548:A1632S	A	+	1	0	OBSCN	226522886	0.009000	0.17119	0.000000	0.03702	0.043000	0.13939	1.211000	0.32382	0.305000	0.22832	0.491000	0.48974	GCA		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	79	224	0	59	0	1.712030e-01	1	2	0	59	2		0	0	0	0	0	2	1	1	48	149	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228462512	228462512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228462512G>A	ENST00000422127.1	+	20	5967	c.5923G>A	c.(5923-5925)Gcc>Acc	p.A1975T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2350T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GGCTGAGGGCGCCTCATCCTC	0.657000																								0							SO:0001583	missense			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105255	0.20632	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.455816	0.21586	N	0.072167	T	0.54191	0.1843	L	0.37561	1.115	0.18873	N	0.999987	D;D	0.63880	0.958;0.993	B;B	0.44044	0.353;0.439	T	0.43556	-0.9384	10	0.14252	T	0.57	.	10.1739	0.42927	0.1597:0.0:0.8403:0.0	.	1975;1975	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1975;1975;822	ENSP00000284548:A1975T;ENSP00000409493:A1975T;ENSP00000352613:A822T	ENSP00000284548:A1975T	A	+	1	0	OBSCN	226529135	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.508000	0.22692	1.213000	0.43380	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	20	67	0	15	0	5.136310e-01	0	7	0	15	2		0	0	0	0	0	2	1	9.999980e-01	20	66	0	15	2								-20.000000	1	1	120830	1	22	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZBTB40	9923	broad.mit.edu	37	1	22846692	22846692	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22846692C>T	ENST00000375647.4	+	14	3179	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ZBTB40_ENST00000404138.1_Missense_Mutation_p.S991F|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F|ZBTB40-IT1_ENST00000438551.1_RNA	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40			26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			AGTGCCCCGTCCATGCTGGAG	0.607000																								0							SO:0001583	missense			ENST00000375647.4	1	1	hg19	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801189	0.70567	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07567	3.18;3.18;3.18	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000062	T	0.31513	0.0799	M	0.74546	2.27	0.51482	D	0.999926	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.00712	-1.1598	10	0.72032	D	0.01	-20.6777	18.585	0.91185	0.0:1.0:0.0:0.0	.	879;991	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	F	991;991;879	ENSP00000384527:S991F;ENSP00000364798:S991F;ENSP00000363782:S879F	ENSP00000363782:S879F	S	+	2	0	ZBTB40	22719279	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.684000	0.68197	2.735000	0.93741	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	1	0	0	35	388	0	87	0	4.259884e-01	1	16	0	87	2		0	0	0	0	0	2	1	1	34	382	0	87	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.840000	0.610000	0.990000	0.870000	0.837552	0.840000	0	7.200000e-01	9.400000e-01
OBSCN	84033	broad.mit.edu	37	1	228469832	228469832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228469832C>A	ENST00000422127.1	+	31	8440	c.8396C>A	c.(8395-8397)gCt>gAt	p.A2799D	OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3228D|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GTCCGGGAGGCTGCACCAAGT	0.657000																								0							SO:0001583	missense			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741893	0.30865	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.71103	-0.54;-0.54;-0.54	4.45	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.192642	0.34676	N	0.003775	D	0.83339	0.5233	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.80764	0.993;0.885;0.994	T	0.82165	-0.0592	10	0.66056	D	0.02	.	7.9133	0.29803	0.0:0.645:0.0:0.355	.	2799;2799;2799	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	D	2799;2799;1646;498;205	ENSP00000284548:A2799D;ENSP00000409493:A2799D;ENSP00000352613:A1646D	ENSP00000284548:A2799D	A	+	2	0	OBSCN	226536455	0.951000	0.32395	0.003000	0.11579	0.004000	0.04260	1.801000	0.38843	0.428000	0.26173	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	14	146	0	31	1	3.707540e-01	2	12	0	31	2		0	0	0	0	0	2	1	9.997694e-01	14	143	0	31	2								-19.775520	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.650000	1.000000	1.000000	0.953179	0.990000	1	8.700000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228471427	228471427	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228471427C>T	ENST00000422127.1	+	33	9005	c.8961C>T	c.(8959-8961)tgC>tgT	p.C2987C	OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000570156.2_Silent_p.C3416C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000366709.4_Silent_p.C106C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	p.C3270C(1)|p.C3041C(1)		223		Prostate(94;0.0405)			CCTATACCTGCGACATTGGCC	0.647000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	81	303	0	68	1	4.562645e-01	3	4	0	68	2		0	0	0	0	0	2	1	1	81	298	0	68	2								-20.000000	1	1	120996	11	40	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228476588	228476588	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228476588G>T	ENST00000422127.1	+	38	10382	c.10338G>T	c.(10336-10338)aaG>aaT	p.K3446N	OBSCN_ENST00000284548.11_Splice_Site_p.K3446N|OBSCN_ENST00000366707.4_Splice_Site_p.K565N|OBSCN_ENST00000570156.2_Splice_Site_p.K3875N|OBSCN_ENST00000359599.6_Splice_Site_p.K2293N|OBSCN_ENST00000366709.4_Splice_Site_p.K565N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			TCACCGTGAAGGGTAATGACT	0.602000																								0							SO:0001630	splice_region_variant			ENST00000422127.1	1	0	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285858	0.23478	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	5.12	3.03	0.35002	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.205780	0.05700	N	0.593826	T	0.11324	0.0276	L	0.58354	1.805	0.19575	N	0.999969	D;B	0.55800	0.973;0.012	P;B	0.53401	0.725;0.009	T	0.27226	-1.0080	10	0.15952	T	0.53	.	1.1255	0.01734	0.2016:0.1401:0.4334:0.2249	.	3446;3446	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	3446;3446;565;565;2293	ENSP00000284548:K3446N;ENSP00000409493:K3446N;ENSP00000355668:K565N;ENSP00000355670:K565N;ENSP00000352613:K2293N	ENSP00000284548:K3446N	K	+	3	2	OBSCN	226543211	0.001000	0.12720	0.850000	0.33497	0.115000	0.19883	-0.087000	0.11215	1.075000	0.40932	0.491000	0.48974	AAG		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	35	258	0	55	1	4.185927e-02	3	0	0	55	2		0	0	0	0	0	2	1	1	35	249	0	55	2								-3.221955	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999630	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228481232	228481232	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228481232G>A	ENST00000422127.1	+	41	11090	c.11046G>A	c.(11044-11046)caG>caA	p.Q3682Q	OBSCN_ENST00000284548.11_Silent_p.Q3682Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Silent_p.Q4111Q|OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000366709.4_Silent_p.Q801Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GTGAGCTGCAGATCCGCGGCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	85	427	0	86	1	1.335158e-01	2	2	0	86	2		0	0	0	0	0	2	1	1	83	425	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228494991	228494991	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228494991G>T	ENST00000422127.1	+	46	12269	c.12225G>T	c.(12223-12225)caG>caT	p.Q4075H	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1709H|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q5032H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			CCCGGCTTCAGAGTCTGGAGC	0.622000																								0							SO:0001583	missense			ENST00000422127.1	0	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560875	0.27827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.81	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.157695	0.41194	D	0.000931	T	0.60379	0.2264	L	0.61036	1.89	0.31867	N	0.620166	B;B	0.18461	0.028;0.002	B;B	0.18263	0.021;0.005	T	0.62393	-0.6864	10	0.37606	T	0.19	.	10.4175	0.44331	0.1334:0.0:0.7494:0.1172	.	4075;4075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	4075;4075;1709;1194	ENSP00000284548:Q4075H;ENSP00000409493:Q4075H;ENSP00000355668:Q1709H;ENSP00000355670:Q1194H	ENSP00000284548:Q4075H	Q	+	3	2	OBSCN	226561614	1.000000	0.71417	0.816000	0.32577	0.006000	0.05464	2.919000	0.48836	0.786000	0.33708	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	10	424	0	117	0	1.317637e-02	0	7	0	117	2		0	0	0	0	0	2	1	9.967701e-01	10	419	0	117	2								-9.078154	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.300000	0.150000	0.510000	0.300000	0.319632	0.300000	0	2.200000e-01	4.100000e-01
OBSCN	84033	broad.mit.edu	37	1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228504445G>A	ENST00000422127.1	+	51	13365	c.13321G>A	c.(13321-13323)Gcg>Acg	p.A4441T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5398T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			TCTGAAAAACGCGGCGGTCCG	0.672000																								0							SO:0001583	missense			ENST00000422127.1	0	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	15.23	2.773100	0.49680	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.76060	-0.99;-0.99;0.14;0.65	5.14	1.06	0.20224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.577390	0.03472	N	0.213753	T	0.56321	0.1977	N	0.16708	0.43	0.09310	N	1	B;B	0.21381	0.0;0.055	B;B	0.10450	0.0;0.005	T	0.36456	-0.9747	10	0.21014	T	0.42	.	4.1581	0.10270	0.2792:0.0:0.4727:0.2481	.	4441;4441	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4441;4441;2075;1560	ENSP00000284548:A4441T;ENSP00000409493:A4441T;ENSP00000355668:A2075T;ENSP00000355670:A1560T	ENSP00000284548:A4441T	A	+	1	0	OBSCN	226571068	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.003000	0.29809	0.183000	0.20059	-0.247000	0.11927	GCG		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	7	158	0	21	0	3.284624e-02	1	5	0	21	2		0	0	0	0	0	2	1	9.804787e-01	7	156	0	21	2								-9.790253	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.560000	0.250000	1.000000	1.000000	0.594575	0.560000	0	3.900000e-01	7.900000e-01
OBSCN	84033	broad.mit.edu	37	1	228511297	228511297	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228511297C>T	ENST00000422127.1	+	56	15686	c.15642C>T	c.(15640-15642)ctC>ctT	p.L5214L	OBSCN_ENST00000284548.11_Silent_p.L5214L|OBSCN_ENST00000366707.4_Silent_p.L2848L|OBSCN_ENST00000570156.2_Silent_p.L6171L|OBSCN_ENST00000366709.4_Silent_p.L2333L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			AGGCTGAGCTCCGTGTGGACT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	16	74	0	21	1	7.724916e-01	3	12	0	21	2		0	0	0	0	0	2	1	9.999442e-01	16	70	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999920	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228525846	228525846	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228525846G>A	ENST00000422127.1	+	67	17045		c.e67+1		OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GAGGCTCAAGGTATCTGAATG	0.682000																								0							SO:0001630	splice_region_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710945	0.68730	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000441106	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9763	0.86314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226592469	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.531000	0.98054	2.324000	0.78689	0.491000	0.48974	.		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	33	98	0	18	0	0	1	0	0	18	2		0	0	0	0	0	2	1	1	33	98	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228550349	228550349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228550349G>A	ENST00000422127.1	+	80	18778	c.18734G>A	c.(18733-18735)gGc>gAc	p.G6245D	OBSCN_ENST00000366707.4_Missense_Mutation_p.G3879D|OBSCN_ENST00000570156.2_Missense_Mutation_p.G7202D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			AAGGCGCCAGGCCCCTCCACA	0.677000																								0							SO:0001583	missense			ENST00000422127.1	0	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147125	0.37923	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62941	-0.01;0.07	4.06	2.17	0.27698	.	0.329473	0.31601	N	0.007373	T	0.40040	0.1101	L	0.27053	0.805	0.09310	N	0.999999	B	0.14012	0.009	B	0.10450	0.005	T	0.15435	-1.0437	10	0.11794	T	0.64	.	5.6793	0.17765	0.3585:0.0:0.6415:0.0	.	6245	Q5VST9	OBSCN_HUMAN	D	6245;3879	ENSP00000409493:G6245D;ENSP00000355668:G3879D	ENSP00000355668:G3879D	G	+	2	0	OBSCN	226616972	0.003000	0.15002	0.009000	0.14445	0.030000	0.12068	0.752000	0.26362	0.494000	0.27859	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	6	202	0	30	0	0	0	1	0	30	2		0	0	0	0	0	2	1	9.645844e-01	6	200	0	29	2								-8.198239	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.390000	0.160000	0.740000	0.360000	0.418707	0.390000	0	2.600000e-01	5.600000e-01
OBSCN	84033	broad.mit.edu	37	1	228553839	228553839	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228553839C>T	ENST00000422127.1	+	83	19172	c.19128C>T	c.(19126-19128)ttC>ttT	p.F6376F	OBSCN_ENST00000366707.4_Silent_p.F4010F|OBSCN_ENST00000570156.2_Silent_p.F7333F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			CGGCCCAATTCGAGGCTATCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280365	0.23392	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.41	0.847	0.18961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.617	0.39698	0.0:0.4472:0.0:0.5528	.	.	.	.	X	993	.	.	R	+	1	2	OBSCN	226620462	0.003000	0.15002	0.976000	0.42696	0.151000	0.21798	-0.314000	0.08092	0.112000	0.17975	0.313000	0.20887	CGA		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	69	344	0	65	1	4.009160e-01	3	5	0	65	2		0	0	0	0	0	2	1	1	69	339	0	65	2								-3.039482	1	1	121050	16	43	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228559352	228559352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559352C>A	ENST00000422127.1	+	94	20917	c.20873C>A	c.(20872-20874)cCt>cAt	p.P6958H	OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H|OBSCN_ENST00000570156.2_Missense_Mutation_p.P7915H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			CACTTGGCCCCTGGCCACAGC	0.711000																								0							SO:0001583	missense			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577488	0.45902	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.63096	-0.02;0.03	3.97	3.03	0.35002	.	.	.	.	.	T	0.49881	0.1583	L	0.27053	0.805	0.23221	N	0.998097	B	0.17465	0.022	B	0.14023	0.01	T	0.47459	-0.9116	9	0.62326	D	0.03	.	12.4621	0.55736	0.0:0.8299:0.1701:0.0	.	6958	Q5VST9	OBSCN_HUMAN	H	6958;4592	ENSP00000409493:P6958H;ENSP00000355668:P4592H	ENSP00000355668:P4592H	P	+	2	0	OBSCN	226625975	0.019000	0.18553	0.003000	0.11579	0.096000	0.18686	1.722000	0.38042	0.854000	0.35336	0.484000	0.47621	CCT		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	21	137	0	25	0	1.446394e-01	0	5	0	25	2		0	0	0	0	0	2	1	9.999982e-01	19	136	0	25	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999360	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228559429	228559429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559429C>T	ENST00000422127.1	+	94	20994	c.20950C>T	c.(20950-20952)Cga>Tga	p.R6984*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R7941*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			TGAGGCACAGCGACTGCCTTC	0.697000																								0							SO:0001587	stop_gained			ENST00000422127.1	0	1	hg19	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.473702|83.473702	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|.	.|.	.|.	4.69|4.69	-8.05|-8.05	0.01106|0.01106	.|.	.|.	.|.	.|.	.|.	T|.	0.15652|.	0.0377|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32375|.	-0.9909|.	4|.	.|0.13470	.|T	.|0.59	.|.	7.8603|7.8603	0.29506|0.29506	0.0:0.3:0.4273:0.2728|0.0:0.3:0.4273:0.2728	.|.	.|.	.|.	.|.	V|X	1600|6984;4618	.|.	.|ENSP00000355668:R4618X	A|R	+|+	2|1	0|2	OBSCN|OBSCN	226626052|226626052	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.111000|0.111000	0.15458|0.15458	-1.059000|-1.059000	0.03193|0.03193	-1.102000|-1.102000	0.02115|0.02115	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	41	208	0	47	1	3.301896e-01	3	4	0	47	2		0	0	0	0	0	2	1	1	40	205	0	47	2								-20.000000	1	0	119926	1	29	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228559432	228559432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559432C>T	ENST00000422127.1	+	94	20997	c.20953C>T	c.(20953-20955)Ctg>Ttg	p.L6985L	OBSCN_ENST00000366707.4_Silent_p.L4619L|OBSCN_ENST00000570156.2_Silent_p.L7942L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GGCACAGCGACTGCCTTCAGC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381544	0.24944	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.69	-0.906	0.10524	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	1.1631	0.01810	0.2763:0.291:0.2699:0.1629	.	.	.	.	I	1601	.	.	T	+	2	0	OBSCN	226626055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.188000	0.09642	-0.330000	0.08514	-0.320000	0.08662	ACT		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	45	203	0	48	1	2.313525e-01	2	3	0	48	2		0	0	0	0	0	2	1	1	43	200	0	48	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228565678	228565678	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228565678C>A	ENST00000422127.1	+	103	23594	c.23550C>A	c.(23548-23550)atC>atA	p.I7850I	OBSCN_ENST00000366707.4_Silent_p.I5484I|OBSCN_ENST00000570156.2_Silent_p.I8805I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			AGACAGACATCTGGGCCATCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000422127.1	1	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356963	0.41801	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.17	3.11	0.35812	.	.	.	.	.	T	0.58736	0.2143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55010	-0.8207	4	.	.	.	.	9.1082	0.36712	0.0:0.7162:0.1335:0.1503	.	.	.	.	M	2465	.	.	L	+	1	2	OBSCN	226632301	0.916000	0.31088	0.999000	0.59377	0.670000	0.39368	0.070000	0.14573	1.143000	0.42306	0.313000	0.20887	CTG		TCGA-IB-7651-01A-11D-2154-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	19	203	0	57	1	6.306227e-01	3	21	0	57	2		0	0	0	0	0	2	1	9.999916e-01	19	200	0	57	2								-19.999990	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.690000	1.000000	1.000000	0.956843	0.990000	1	8.700000e-01	1
TRIM17	51127	broad.mit.edu	37	1	228595985	228595985	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228595985G>A	ENST00000366697.2	-	6	2307	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S|TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000284551.6_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17			10		Prostate(94;0.0724)			GGCTGCAGGGGGCCTGGGAAG	0.592000																								0							SO:0001583	missense			ENST00000366697.2	1	1	hg19	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689834	0.48097	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.65549	-0.16;-0.16;-0.16	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43260	D	0.000592	T	0.73837	0.3638	M	0.67700	2.07	0.80722	D	1	D	0.52996	0.957	P	0.57324	0.818	T	0.76138	-0.3069	10	0.59425	D	0.04	.	16.4366	0.83877	0.0:0.0:1.0:0.0	.	451	Q9Y577	TRI17_HUMAN	S	451	ENSP00000355658:P451S;ENSP00000355659:P451S;ENSP00000295033:P451S	ENSP00000295033:P451S	P	-	1	0	TRIM17	226662608	0.182000	0.23173	0.992000	0.48379	0.495000	0.33615	2.066000	0.41452	2.642000	0.89623	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	1	0	1	146	390	0	90	1	9.929278e-01	21	2	0	90	2		0	0	0	0	0	2	1	1	144	387	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST3H2BB	128312	broad.mit.edu	37	1	228646088	228646088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646088G>T	ENST00000369160.2	+	1	281	c.258G>T	c.(256-258)aaG>aaT	p.K86N	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb			1		Prostate(94;0.183)			ACTACAACAAGCGCTCCACCA	0.647000																								0							SO:0001583	missense			ENST00000369160.2	1	1	hg19	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.510202	0.85282	.	.	ENSG00000196890	ENST00000369160	T	0.75050	-0.9	3.94	3.03	0.35002	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000008	D	0.82788	0.5113	M	0.85542	2.76	0.54753	D	0.999986	P	0.52692	0.955	P	0.56278	0.795	D	0.84800	0.0784	10	0.87932	D	0	.	10.1856	0.42995	0.1001:0.0:0.8999:0.0	.	86	Q8N257	H2B3B_HUMAN	N	86	ENSP00000375736:K86N	ENSP00000375736:K86N	K	+	3	2	HIST3H2BB	226712711	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.186000	0.58337	1.250000	0.43966	-0.225000	0.12378	AAG		TCGA-IB-7651-01A-11D-2154-08	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	1	0	1	116	558	0	118	0	3.016703e-02	1	1	0	118	2		0	0	0	0	0	2	1	1	113	551	0	116	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST3H2BB	128312	broad.mit.edu	37	1	228646167	228646167	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646167T>C	ENST00000369160.2	+	1	360	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb			1		Prostate(94;0.183)			GCACGCCGTGTCCGAGGGCAC	0.637000																								0							SO:0001583	missense			ENST00000369160.2	1	1	hg19	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	18.51	3.639928	0.67244	.	.	ENSG00000196890	ENST00000369160	T	0.46063	0.88	3.72	3.72	0.42706	Histone-fold (2);	0.000000	0.64402	D	0.000015	T	0.46795	0.1411	M	0.84511	2.7	0.58432	D	0.999996	B	0.24576	0.106	B	0.21546	0.035	T	0.55698	-0.8100	10	0.66056	D	0.02	.	11.0805	0.48057	0.0:0.0:0.0:1.0	.	113	Q8N257	H2B3B_HUMAN	P	113	ENSP00000375736:S113P	ENSP00000375736:S113P	S	+	1	0	HIST3H2BB	226712790	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.617000	0.67716	1.926000	0.55796	0.477000	0.44152	TCC		TCGA-IB-7651-01A-11D-2154-08	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	0	0	1	118	357	0	85	0	1.562479e-01	0	3	0	85	2		0	0	0	0	0	2	1	1	114	351	0	85	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MORN1	79906	broad.mit.edu	37	1	2290153	2290153	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2290153G>A	ENST00000378531.3	-	9	920	c.747C>T	c.(745-747)agC>agT	p.S249S	MORN1_ENST00000378529.3_Splice_Site_p.S249S|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1			9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)			GGCCGCTCTCGCCTTCCAGGA	0.597000																								0							SO:0001630	splice_region_variant			ENST00000378531.3	0	1	hg19	CCDS40.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	0	0	0	8	80	0	18	1	1.193627e-01	3	3	0	18	2		0	0	0	0	0	2	1	9.900309e-01	8	79	0	17	2								-5.984462	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.780000	0.420000	0.990000	0.900000	0.766720	0.780000	0	5.900000e-01	9.300000e-01
EPHA8	2046	broad.mit.edu	37	1	22903086	22903086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903086G>A	ENST00000166244.3	+	3	608	c.536G>A	c.(535-537)cGc>cAc	p.R179H	EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H|EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			CTCAGCAAGCGCGGCTTCTAC	0.612000																								0							SO:0001583	missense			ENST00000166244.3	1	1	hg19	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555036	0.65425	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.10382	2.88;2.88;2.88	3.93	3.93	0.45458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.27063	0.0663	M	0.66439	2.03	0.45554	D	0.998501	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.00847	-1.1542	10	0.59425	D	0.04	.	8.6547	0.34055	0.1084:0.0:0.8916:0.0	.	179;179	P29322;P29322-2	EPHA8_HUMAN;.	H	179	ENSP00000166244:R179H;ENSP00000363775:R179H;ENSP00000440274:R179H	ENSP00000166244:R179H	R	+	2	0	EPHA8	22775673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.435000	0.52849	2.008000	0.58898	0.442000	0.29010	CGC		TCGA-IB-7651-01A-11D-2154-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1	66	272	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	65	268	0	69	2								-20.000000	1	1	121412	1	29	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.979598	0.980000	1	9.500000e-01	1
EPHA8	2046	broad.mit.edu	37	1	22903205	22903205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903205A>G	ENST00000166244.3	+	3	727	c.655A>G	c.(655-657)Acg>Gcg	p.T219A	EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A|EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			GGAGGCAGTGACGGGGGCCGA	0.637000																								0							SO:0001583	missense			ENST00000166244.3	1	1	hg19	CCDS225.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940226	0.52972	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.73789	-0.78;5.07;5.07	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.33753	1.03	0.49582	D	0.999805	D;P	0.69078	0.997;0.926	D;P	0.75020	0.985;0.839	T	0.71371	-0.4613	10	0.19147	T	0.46	.	11.8592	0.52457	1.0:0.0:0.0:0.0	.	219;219	P29322;P29322-2	EPHA8_HUMAN;.	A	219	ENSP00000166244:T219A;ENSP00000363775:T219A;ENSP00000440274:T219A	ENSP00000166244:T219A	T	+	1	0	EPHA8	22775792	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	4.957000	0.63652	1.662000	0.50781	0.363000	0.22086	ACG		TCGA-IB-7651-01A-11D-2154-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	0	21	211	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.999980e-01	21	209	0	49	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.850000	0.580000	0.990000	0.940000	0.841006	0.850000	1	7.100000e-01	9.600000e-01
EPHA8	2046	broad.mit.edu	37	1	22913039	22913039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22913039G>A	ENST00000166244.3	+	4	962	c.890G>A	c.(889-891)aGc>aAc	p.S297N	EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N|EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			CCTCCCCACAGCCACTCCGCA	0.672000																								0							SO:0001583	missense			ENST00000166244.3	1	1	hg19	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939549	0.92526	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97430	1.59;-4.38;-4.38	4.35	4.35	0.52113	.	0.053256	0.85682	D	0.000000	D	0.98372	0.9459	M	0.92268	3.29	0.52501	D	0.999958	P;D	0.55800	0.671;0.973	B;P	0.56612	0.107;0.802	D	0.99544	1.0964	10	0.87932	D	0	.	15.6037	0.76646	0.0:0.0:1.0:0.0	.	297;297	P29322;P29322-2	EPHA8_HUMAN;.	N	297	ENSP00000166244:S297N;ENSP00000363775:S297N;ENSP00000440274:S297N	ENSP00000166244:S297N	S	+	2	0	EPHA8	22785626	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.587000	0.98229	2.265000	0.75225	0.455000	0.32223	AGC		TCGA-IB-7651-01A-11D-2154-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	0	89	247	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	85	242	0	66	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988576	0.980000	1	9.700000e-01	1
EPHA8	2046	broad.mit.edu	37	1	22924291	22924291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22924291G>A	ENST00000166244.3	+	11	2125	c.2053G>A	c.(2053-2055)Gcg>Acg	p.A685T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			CCTGAGCGAGGCGTCCATCAT	0.662000																								0							SO:0001583	missense			ENST00000166244.3	1	1	hg19	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916304	0.92249	.	.	ENSG00000070886	ENST00000166244	T	0.63913	-0.07	4.56	4.56	0.56223	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84792	0.0779	10	0.87932	D	0	.	16.0699	0.80919	0.0:0.0:1.0:0.0	.	685	P29322	EPHA8_HUMAN	T	685	ENSP00000166244:A685T	ENSP00000166244:A685T	A	+	1	0	EPHA8	22796878	1.000000	0.71417	0.989000	0.46669	0.675000	0.39556	9.657000	0.98554	2.365000	0.80145	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1	117	458	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	116	449	0	102	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989900	0.980000	1	9.700000e-01	1
EPHA8	2046	broad.mit.edu	37	1	22927925	22927925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22927925C>T	ENST00000166244.3	+	16	2934	c.2862C>T	c.(2860-2862)ggC>ggT	p.G954G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			TCGCTGCGGGCGGATACTCCT	0.706000																								0							SO:0001819	synonymous_variant			ENST00000166244.3	1	1	hg19	CCDS225.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1	89	318	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	88	314	0	66	2								-4.104190	1	1	121318	1	30	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986860	0.980000	1	9.600000e-01	1
RAB4A	5867	broad.mit.edu	37	1	229433282	229433282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229433282C>T	ENST00000366690.4	+	5	552	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family			11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)			CGAATGCTAGCGAGCCAGAAC	0.388000													Esophageal Squamous(11;250 603 9619 16563)											0							SO:0001583	missense			ENST00000366690.4	1	1	hg19	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295386	0.81025	.	.	ENSG00000168118	ENST00000366690	T	0.77358	-1.09	5.48	4.57	0.56435	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	L	0.57130	1.785	0.80722	D	1	P	0.45176	0.852	B	0.41946	0.371	T	0.78750	-0.2082	10	0.72032	D	0.01	.	14.3666	0.66810	0.0:0.9287:0.0:0.0713	.	110	P20338	RAB4A_HUMAN	V	115	ENSP00000355651:A115V	ENSP00000355651:A115V	A	+	2	0	RAB4A	227499905	1.000000	0.71417	0.938000	0.37757	0.981000	0.71138	7.818000	0.86416	1.294000	0.44707	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	1	0	0	35	626	0	110	1	9.999990e-01	9	366	0	110	2		0	0	0	0	0	2	1	1	34	619	0	109	2								-5.926144	1	1	121412	1	33	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.670000	0.480000	0.910000	0.670000	0.689418	0.670000	0	5.700000e-01	8.000000e-01
ACTA1	58	broad.mit.edu	37	1	229567884	229567884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229567884G>A	ENST00000366684.3	-	5	767	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle			28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			GAAGTCCAGGGCCACGTAGCA	0.657000																								0							SO:0001583	missense			ENST00000366684.3	1	1	hg19	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753071	0.69648	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.94613	-3.47;-3.47	4.28	4.28	0.50868	.	0.065554	0.64402	D	0.000018	D	0.97629	0.9223	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98786	1.0734	10	0.87932	D	0	.	16.8952	0.86098	0.0:0.0:1.0:0.0	.	222	P68133	ACTS_HUMAN	V	222;132;134;187	ENSP00000355645:A222V;ENSP00000355644:A134V	ENSP00000312351:A132V	A	-	2	0	ACTA1	227634507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.201000	0.70794	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	1	0	0	40	191	0	37	0	0	0	1	0	37	2		0	0	0	0	0	2	1	1	40	188	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTA1	58	broad.mit.edu	37	1	229568761	229568761	+	Silent	SNP	C	C	T	rs147303135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568761C>T	ENST00000366684.3	-	2	204	c.102G>A	c.(100-102)ccG>ccA	p.P34P	ACTA1_ENST00000366683.2_Silent_p.P34P	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle			28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			CCACGATGGACGGGAACACGG	0.721000																								0							SO:0001819	synonymous_variant			ENST00000366684.3	1	1	hg19	CCDS1578.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	1	0	0	103	284	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	103	283	0	45	2								-20.000000	1	0	121388	2	32	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1QA	712	broad.mit.edu	37	1	22964203	22964203	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22964203A>T	ENST00000374642.3	+	2	298	c.94A>T	c.(94-96)Aag>Tag	p.K32*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain			6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCAGACGGGAAGAAAGGGGA	0.662000																								0							SO:0001587	stop_gained			ENST00000374642.3	0	1	hg19	CCDS226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.47|17.47	3.396592|3.396592	0.62177|0.62177	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000339353|ENST00000374642;ENST00000438241;ENST00000402322	.|.	.|.	.|.	4.88|4.88	0.85|0.85	0.18980|0.18980	.|.	2.869200|.	0.01757|.	N|.	0.030313|.	T|.	0.56587|.	0.1995|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66464|.	-0.5917|.	5|.	0.66056|0.51188	D|T	0.02|0.08	2.406|2.406	10.9783|10.9783	0.47480|0.47480	0.5354:0.4646:0.0:0.0|0.5354:0.4646:0.0:0.0	.|.	.|.	.|.	.|.	V|X	30|32	.|.	ENSP00000341271:E30V|ENSP00000363773:K32X	E|K	+|+	2|1	0|0	C1QA|C1QA	22836790|22836790	0.836000|0.836000	0.29430|0.29430	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	2.501000|2.501000	0.45389|0.45389	0.311000|0.311000	0.23014|0.23014	-0.488000|-0.488000	0.04728|0.04728	GAA|AAG		TCGA-IB-7651-01A-11D-2154-08	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	1	0	1	15	85	0	19	0	1	0	1842	0	19	2		0	0	0	0	0	2	1	9.998750e-01	14	81	0	19	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.910000	0.660000	1.000000	0.990000	0.898523	0.910000	1	8.000000e-01	9.800000e-01
ABCB10	23456	broad.mit.edu	37	1	229661725	229661725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229661725C>A	ENST00000344517.4	-	10	1906	c.1864G>T	c.(1864-1866)Ggg>Tgg	p.G622W		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10			31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)			GTGTTGAACCCTTGGGGGAAA	0.478000																								0							SO:0001583	missense			ENST00000344517.4	1	1	hg19	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484617	0.84854	.	.	ENSG00000135776	ENST00000344517	D	0.85955	-2.05	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97938	1.0324	10	0.87932	D	0	-18.8303	18.7182	0.91684	0.0:1.0:0.0:0.0	.	622	Q9NRK6	ABCBA_HUMAN	W	622	ENSP00000355637:G622W	ENSP00000355637:G622W	G	-	1	0	ABCB10	227728348	1.000000	0.71417	0.348000	0.25681	0.799000	0.45148	7.814000	0.86154	2.475000	0.83589	0.591000	0.81541	GGG		TCGA-IB-7651-01A-11D-2154-08	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	1	0	1	110	990	0	219	1	9.996629e-01	9	94	0	219	2		0	0	0	0	0	2	1	1	108	957	0	218	2								-2.879461	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999848	0.990000	1	9.900000e-01	1
ABCB10	23456	broad.mit.edu	37	1	229675332	229675332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229675332G>T	ENST00000344517.4	-	6	1252	c.1210C>A	c.(1210-1212)Ctc>Atc	p.L404I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10			31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)			TTTCCGGAGAGCCCAGTCTGT	0.493000																								0							SO:0001583	missense			ENST00000344517.4	1	1	hg19	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211720	0.79240	.	.	ENSG00000135776	ENST00000344517	D	0.90900	-2.75	5.25	5.25	0.73442	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	L	0.45698	1.435	0.80722	D	1	B	0.09022	0.002	B	0.31290	0.127	D	0.84821	0.0796	10	0.32370	T	0.25	-23.9756	19.2149	0.93772	0.0:0.0:1.0:0.0	.	404	Q9NRK6	ABCBA_HUMAN	I	404	ENSP00000355637:L404I	ENSP00000355637:L404I	L	-	1	0	ABCB10	227741955	1.000000	0.71417	0.992000	0.48379	0.594000	0.36715	6.055000	0.71103	2.619000	0.88677	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	1	0	1	61	342	0	68	1	9.999654e-01	15	71	0	68	2		0	0	0	0	0	2	1	1	61	335	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF5L	27097	broad.mit.edu	37	1	229738419	229738419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229738419G>A	ENST00000366676.1	-	3	494	c.495C>T	c.(493-495)gtC>gtT	p.V165V	TAF5L_ENST00000258281.2_Silent_p.V165V|TAF5L_ENST00000366675.3_Silent_p.V165V			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa			11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)			CTTGGAGACGGACCACGTACT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000366676.1	1	1	hg19	CCDS1581.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	1	0	1	53	591	0	116	1	9.967137e-01	11	86	0	116	2		0	0	0	0	0	2	1	1	52	578	0	115	2								-13.439200	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.800000	1.000000	1.000000	0.971067	0.990000	1	9.100000e-01	1
C1QC	714	broad.mit.edu	37	1	22974234	22974234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22974234C>T	ENST00000374639.3	+	3	814	c.696C>T	c.(694-696)ggC>ggT	p.G232G	C1QC_ENST00000374637.1_Silent_p.G232G|C1QC_ENST00000374640.4_Silent_p.G232G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain			15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCATCCAGGGCTCTGACAGCG	0.637000													Ovarian(26;671 750 8290 29071 43278)											0							SO:0001819	synonymous_variant			ENST00000374639.3	0	1	hg19	CCDS227.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	0	0	0	8	422	0	102	1	1	2	4414	0	102	2		0	0	0	0	0	2	1	9.884558e-01	8	412	0	101	2								-7.342367	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.200000	0.090000	0.370000	0.200000	0.219178	0.200000	0	1.400000e-01	2.900000e-01
URB2	9816	broad.mit.edu	37	1	229773865	229773865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229773865G>A	ENST00000258243.2	+	4	3641	c.3505G>A	c.(3505-3507)Gcg>Acg	p.A1169T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)			73					GCCAGCTCTCGCGGGACATGA	0.522000																								0							SO:0001583	missense			ENST00000258243.2	1	1	hg19	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580204	0.28180	.	.	ENSG00000135763	ENST00000258243	T	0.31510	1.49	5.65	1.83	0.25207	.	0.663319	0.15700	N	0.248971	T	0.17534	0.0421	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.24119	-1.0169	9	.	.	.	-1.6535	6.2627	0.20910	0.2396:0.0:0.6339:0.1265	.	1169	Q14146	URB2_HUMAN	T	1169	ENSP00000258243:A1169T	.	A	+	1	0	URB2	227840488	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	1.662000	0.37418	0.149000	0.19098	0.585000	0.79938	GCG		TCGA-IB-7651-01A-11D-2154-08	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	0	0	0	15	449	0	72	1	4.843093e-01	2	46	0	72	2		0	0	0	0	0	2	1	9.998672e-01	15	445	0	72	2								-3.264037	1	1	121412	4	39	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.420000	0.240000	0.650000	0.420000	0.435203	0.420000	0	3.200000e-01	5.400000e-01
URB2	9816	broad.mit.edu	37	1	229790133	229790133	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229790133A>G	ENST00000258243.2	+	9	4511	c.4375A>G	c.(4375-4377)Aag>Gag	p.K1459E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)			73					GGAGGTACAGAAGGTAAAATT	0.478000																								0							SO:0001583	missense			ENST00000258243.2	1	1	hg19	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769447	0.69992	.	.	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.44083	0.93;0.93	4.95	4.95	0.65309	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.092536	0.85682	D	0.000000	T	0.54743	0.1877	L	0.41824	1.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52087	-0.8622	9	.	.	.	-29.2915	14.9107	0.70755	1.0:0.0:0.0:0.0	.	1459	Q14146	URB2_HUMAN	E	1459;75	ENSP00000258243:K1459E;ENSP00000395107:K75E	.	K	+	1	0	URB2	227856756	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.236000	0.89805	1.976000	0.57569	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	0	0	0	10	414	0	68	0	4.332579e-01	1	57	0	68	2		0	0	0	0	0	2	1	9.966081e-01	10	405	0	68	2								-9.706978	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.310000	0.150000	0.520000	0.300000	0.327077	0.310000	0	2.200000e-01	4.200000e-01
URB2	9816	broad.mit.edu	37	1	229795022	229795022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229795022G>A	ENST00000258243.2	+	10	4689	c.4553G>A	c.(4552-4554)gGa>gAa	p.G1518E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)			73					AAACATGAAGGAGAGAAAAGA	0.507000																								0							SO:0001583	missense			ENST00000258243.2	1	1	hg19	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282062	0.80692	.	.	ENSG00000135763	ENST00000258243	T	0.50548	0.74	5.5	5.5	0.81552	.	0.050544	0.85682	D	0.000000	T	0.63046	0.2478	M	0.61703	1.905	0.58432	D	0.999998	D	0.76494	0.999	D	0.64144	0.922	T	0.61695	-0.7010	9	.	.	.	-11.8818	14.6098	0.68507	0.0:0.1456:0.8543:0.0	.	1518	Q14146	URB2_HUMAN	E	1518	ENSP00000258243:G1518E	.	G	+	2	0	URB2	227861645	1.000000	0.71417	0.663000	0.29738	0.965000	0.64279	6.264000	0.72527	2.576000	0.86940	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	1	0	1	190	593	0	131	1	9.999627e-01	27	21	0	131	2		0	0	0	0	0	2	1	1	187	581	0	129	2								-6.109253	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT2	2590	broad.mit.edu	37	1	230391082	230391082	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230391082C>A	ENST00000366672.4	+	11	1200	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	GALNT2_ENST00000541865.1_Missense_Mutation_p.L252I|GALNT2_ENST00000543760.1_Silent_p.V338V	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2			32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)			GTGGCACTGTCTTTGCCCGGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000366672.4	1	1	hg19	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	2.039	-0.420611	0.04734	.	.	ENSG00000143641	ENST00000541865	T	0.44482	0.92	4.97	1.93	0.25924	.	.	.	.	.	T	0.20861	0.0502	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07139	-1.0788	6	0.10902	T	0.67	.	0.7754	0.01031	0.3337:0.2675:0.2233:0.1756	.	.	.	.	I	252	ENSP00000444346:L252I	ENSP00000444346:L252I	L	+	1	0	GALNT2	228457705	0.984000	0.35163	1.000000	0.80357	0.959000	0.62525	0.146000	0.16180	0.514000	0.28300	-0.261000	0.10672	CTT		TCGA-IB-7651-01A-11D-2154-08	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	0	0	0	15	396	0	73	1	9.999678e-01	13	473	0	73	2		0	0	0	0	0	2	1	9.998653e-01	15	391	0	71	2								-14.769800	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.470000	0.270000	0.730000	0.460000	0.490593	0.470000	0	3.600000e-01	6.000000e-01
GALNT2	2590	broad.mit.edu	37	1	230398351	230398351	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230398351A>G	ENST00000366672.4	+	12	1241	c.1169A>G	c.(1168-1170)gAt>gGt	p.D390G	GALNT2_ENST00000541865.1_Silent_p.G265G|GALNT2_ENST00000543760.1_Missense_Mutation_p.D352G|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2			32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)			GTCTGGATGGATGAATACAAA	0.433000																								0							SO:0001583	missense			ENST00000366672.4	0	1	hg19	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386202	0.82902	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.71579	-0.58;-0.58	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.91920	3.255	0.80722	D	1	P;P	0.52577	0.924;0.954	B;P	0.49252	0.4;0.604	D	0.86630	0.1885	10	0.87932	D	0	.	14.5694	0.68202	1.0:0.0:0.0:0.0	.	390;352	Q10471;G3V1S6	GALT2_HUMAN;.	G	352;390;271	ENSP00000445017:D352G;ENSP00000355632:D390G	ENSP00000355632:D390G	D	+	2	0	GALNT2	228464974	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	9.268000	0.95675	1.906000	0.55180	0.379000	0.24179	GAT		TCGA-IB-7651-01A-11D-2154-08	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	0	0	0	19	1356	0	207	1	9.187873e-01	3	305	0	207	2		0	0	0	0	0	2	1	9.999874e-01	18	1323	0	207	2								-2.879492	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.170000	0.100000	0.270000	0.180000	0.184954	0.170000	0	1.300000e-01	2.300000e-01
GALNT2	2590	broad.mit.edu	37	1	230415072	230415072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230415072C>T	ENST00000366672.4	+	16	1656	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	GALNT2_ENST00000543760.1_Silent_p.N490N|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2			32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)			TCGAGGGCAACTCCAAGCTGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000366672.4	1	1	hg19	CCDS1582.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	1	0	1	79	202	0	44	1	1	121	331	0	44	2		0	0	0	0	0	2	1	1	77	200	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGBD5	79605	broad.mit.edu	37	1	230472895	230472895	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230472895C>A	ENST00000525115.1	-	4	850	c.827G>T	c.(826-828)aGc>aTc	p.S276I	PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I|PGBD5_ENST00000321327.2_Missense_Mutation_p.S375I|PGBD5_ENST00000530424.1_5'Flank			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5			33	Breast(184;0.0397)	Prostate(94;0.167)			GCTGGTGATGCTGGGCCCCGT	0.587000																								0							SO:0001583	missense			ENST00000525115.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	20.5	4.003363	0.74932	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18502	2.21;2.21;2.21	5.21	5.21	0.72293	.	0.086170	0.85682	D	0.000000	T	0.30479	0.0766	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.07009	-1.0795	10	0.48119	T	0.1	-37.2023	18.7377	0.91761	0.0:1.0:0.0:0.0	.	276	Q8N414	PGBD5_HUMAN	I	230;375;276	ENSP00000375733:S230I;ENSP00000322530:S375I;ENSP00000431404:S276I	ENSP00000322530:S375I	S	-	2	0	PGBD5	228539518	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.167000	0.71902	2.409000	0.81822	0.585000	0.79938	AGC		TCGA-IB-7651-01A-11D-2154-08	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	1	0	1	133	400	0	96	0	9.169208e-01	0	15	0	96	2		0	0	0	0	0	2	1	1	130	392	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COG2	22796	broad.mit.edu	37	1	230805179	230805179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805179C>T	ENST00000366669.4	+	7	787	c.672C>T	c.(670-672)gtC>gtT	p.V224V	COG2_ENST00000535166.1_Silent_p.V108V|COG2_ENST00000534989.1_Silent_p.V165V|COG2_ENST00000366668.3_Silent_p.V224V	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2			27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)			CGTCTGACGTCGATATAATAC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000366669.4	1	1	hg19	CCDS1584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	1	0	1	117	381	0	102	1	1	36	57	0	102	2		0	0	0	0	0	2	1	1	115	377	0	100	2								-4.610796	1	0	121412	4	36	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COG2	22796	broad.mit.edu	37	1	230805251	230805251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805251C>T	ENST00000366669.4	+	7	859	c.744C>T	c.(742-744)ggC>ggT	p.G248G	COG2_ENST00000535166.1_Silent_p.G132G|COG2_ENST00000534989.1_Silent_p.G189G|COG2_ENST00000366668.3_Silent_p.G248G	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2			27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)			CCTTAGTTGGCCAAGTACTAG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000366669.4	1	1	hg19	CCDS1584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	0	0	0	11	241	0	54	1	8.907013e-01	4	84	0	54	2		0	0	0	0	0	2	1	9.983674e-01	11	239	0	53	2								-12.726980	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.570000	0.300000	0.930000	0.540000	0.593832	0.570000	0	4.200000e-01	7.500000e-01
COG2	22796	broad.mit.edu	37	1	230820883	230820883	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230820883G>A	ENST00000366669.4	+	12	1396	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	COG2_ENST00000546013.1_Silent_p.R116R|COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000534989.1_Silent_p.R368R|COG2_ENST00000366668.3_Silent_p.R427R	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2			27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)			GCAGCCTTAGGAGGTGTTGGT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000366669.4	1	1	hg19	CCDS1584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	1	0	1	122	628	0	123	1	9.999999e-01	26	88	0	123	2		0	0	0	0	0	2	1	1	119	619	0	122	2								-3.144845	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGT	183	broad.mit.edu	37	1	230846565	230846565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230846565G>T	ENST00000366667.4	-	2	246	c.32C>A	c.(31-33)gCt>gAt	p.A11D	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)			25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)			ACCGGCAGGAGCCATCTCAGA	0.567000																								0							SO:0001583	missense			ENST00000366667.4	1	1	hg19	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009170	0.35415	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.82167	-1.58	5.37	0.101	0.14517	.	1.311970	0.05099	N	0.486836	T	0.76033	0.3931	L	0.51422	1.61	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.09377	0.002;0.004;0.002	T	0.58741	-0.7583	10	0.72032	D	0.01	.	1.6063	0.02684	0.2446:0.156:0.4607:0.1388	.	11;11;11	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	D	11	ENSP00000355627:A11D	ENSP00000355627:A11D	A	-	2	0	AGT	228913188	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.032000	0.13732	-0.157000	0.11059	-0.310000	0.09108	GCT		TCGA-IB-7651-01A-11D-2154-08	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	0	0	0	16	388	0	52	0	7.595714e-01	0	68	0	52	2		0	0	0	0	0	2	1	9.999283e-01	16	382	0	52	2								-16.115130	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.510000	0.300000	0.780000	0.510000	0.530135	0.510000	0	3.900000e-01	6.500000e-01
TRIM67	440730	broad.mit.edu	37	1	231339671	231339671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231339671G>A	ENST00000366653.5	+	6	1593	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	TRIM67_ENST00000449018.3_Silent_p.T469T|TRIM67_ENST00000366652.2_Silent_p.T531T|TRIM67_ENST00000444294.3_Silent_p.T529T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67			29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)			ACAGCGTCACGCTGGCCTGGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000366653.5	0	1	hg19	CCDS44333.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	0	0	0	6	172	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.619285e-01	6	166	0	49	2								-3.318789	1	1	121110	10	41	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.450000	0.190000	0.860000	0.420000	0.486434	0.450000	0	3.000000e-01	6.600000e-01
DISC1	27185	broad.mit.edu	37	1	231829955	231829955	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231829955G>T	ENST00000602281.1	+	2	504	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.D151Y|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1			15		all_cancers(173;0.0208)|Prostate(94;0.0975)			TGCAGCCATGGATAGTTCTGA	0.612000																								0							SO:0001583	missense			ENST00000602281.1	1	1	hg19	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048278	0.55110	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.89	2.94	0.34122	.	0.558568	0.18836	N	0.129833	T	0.40297	0.1111	L	0.36672	1.1	0.21290	N	0.99974	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.844;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.974;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.974	P;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;P	0.78314	0.534;0.988;0.961;0.991;0.988;0.961;0.988;0.988;0.988;0.988;0.705;0.988;0.991;0.988;0.964;0.977;0.991;0.964;0.977;0.988;0.705	T	0.04255	-1.0965	10	0.44086	T	0.13	-23.4826	9.4905	0.38955	0.0:0.1529:0.6902:0.1569	.	151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151;151	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	Y	151;151;151;151;151;151;151;151;151;151;151;151;2	ENSP00000403888:D151Y;ENSP00000320784:D151Y;ENSP00000355596:D151Y;ENSP00000443996:D151Y;ENSP00000440909:D151Y;ENSP00000355593:D151Y;ENSP00000440953:D151Y;ENSP00000295051:D151Y;ENSP00000441193:D151Y	ENSP00000295051:D151Y	D	+	1	0	DISC1	229896578	0.945000	0.32115	0.881000	0.34555	0.052000	0.14988	2.216000	0.42871	2.519000	0.84933	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	1	0	0	25	261	0	48	0	1.602466e-01	0	8	0	48	2		0	0	0	0	0	2	1	9.999999e-01	25	260	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.750000	1.000000	1.000000	0.969897	0.990000	1	9.200000e-01	1
MORN1	79906	broad.mit.edu	37	1	2318897	2318897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2318897C>T	ENST00000378531.3	-	4	492	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MORN1_ENST00000378529.3_Missense_Mutation_p.G107R|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1			9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)			TCATAACATCCGCCGGCTTTG	0.597000																								0							SO:0001583	missense			ENST00000378531.3	1	1	hg19	CCDS40.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279792	0.59758	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000378525	T;T;T	0.57107	1.0;1.0;0.42	4.58	4.58	0.56647	.	0.000000	0.53938	D	0.000059	T	0.61009	0.2313	L	0.38953	1.18	0.38970	D	0.958727	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.91635	0.846;0.993;0.999	T	0.58211	-0.7676	10	0.21014	T	0.42	.	14.8721	0.70465	0.0:1.0:0.0:0.0	.	83;107;107	B4DRE3;Q5T089-2;Q5T089	.;.;MORN1_HUMAN	R	107;107;83	ENSP00000367792:G107R;ENSP00000367790:G107R;ENSP00000367786:G83R	ENSP00000367786:G83R	G	-	1	0	MORN1	2308757	0.554000	0.26522	0.133000	0.22050	0.493000	0.33554	4.424000	0.59868	2.073000	0.62155	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	1	0	0	44	518	0	133	1	5.043507e-01	4	17	0	133	2		0	0	0	0	0	2	1	1	44	508	0	130	2								-2.744762	1	1	121412	3	36	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.810000	0.610000	0.980000	0.830000	0.819343	0.810000	0	7.100000e-01	9.200000e-01
EPHB2	2048	broad.mit.edu	37	1	23191452	23191452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23191452C>T	ENST00000400191.3	+	5	1068	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000544305.1_Silent_p.S350S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S344S|MIR4253_ENST00000581187.1_RNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2			56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)			CCCGCGACTCCGGAGGCCGAG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000400191.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	1	0	0	66	707	0	129	1	8.554609e-01	2	37	0	129	2		0	0	0	0	0	2	1	1	64	682	0	128	2								-2.966611	1	1	121406	1	34	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.880000	0.700000	0.990000	0.910000	0.878342	0.880000	1	7.900000e-01	9.600000e-01
EPHB2	2048	broad.mit.edu	37	1	23222070	23222070	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23222070A>G	ENST00000400191.3	+	8	1715	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2			56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)			ATCGTGTGTAACAGGTGGGTG	0.577000																								0							SO:0001583	missense			ENST00000400191.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	6.939	0.543039	0.13250	.	.	ENSG00000133216	ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	4.98	4.98	0.66077	.	0.430341	0.23937	N	0.043085	T	0.02848	0.0085	N	0.00525	-1.395	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45411	-0.9263	10	0.22109	T	0.4	.	8.3167	0.32104	0.9114:0.0:0.0886:0.0	.	566;584;566	P29323;Q4LE53;P29323-3	EPHB2_HUMAN;.;.	S	566;566;566;561	ENSP00000363761:N566S;ENSP00000383053:N566S;ENSP00000363763:N566S;ENSP00000363758:N561S	ENSP00000363758:N561S	N	+	2	0	EPHB2	23094657	0.955000	0.32602	1.000000	0.80357	0.993000	0.82548	1.048000	0.30379	2.082000	0.62665	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	1	0	0	21	314	0	76	0	8.684143e-01	0	56	0	76	2		0	0	0	0	0	2	1	9.999972e-01	21	306	0	75	2								-19.999970	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.660000	0.420000	0.920000	0.660000	0.675221	0.660000	0	5.300000e-01	8.100000e-01
EPHB2	2048	broad.mit.edu	37	1	23240353	23240353	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23240353G>A	ENST00000400191.3	+	17	3176	c.3158G>A	c.(3157-3159)tGc>tAc	p.C1053Y	EPHB2_ENST00000374632.3_3'UTR|RP1-74M1.3_ENST00000610135.1_lincRNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2			56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)			GACTGTTCTTGCGGGGGATAA	0.463000																								0							SO:0001583	missense			ENST00000400191.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599461	0.03744	.	.	ENSG00000133216	ENST00000400191	T	0.73681	-0.77	0.688	-0.403	0.12400	.	.	.	.	.	T	0.68659	0.3025	.	.	.	0.41567	D	0.988662	P	0.39520	0.676	B	0.42343	0.384	T	0.65557	-0.6139	7	0.87932	D	0	.	.	.	.	.	1053	P29323	EPHB2_HUMAN	Y	1053	ENSP00000383053:C1053Y	ENSP00000383053:C1053Y	C	+	2	0	EPHB2	23112940	0.964000	0.33143	0.535000	0.28026	0.496000	0.33645	1.743000	0.38258	-0.191000	0.10448	0.400000	0.26472	TGC		TCGA-IB-7651-01A-11D-2154-08	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	0	0	1	6	53	0	19	0	9.434529e-01	1	48	0	19	2		0	0	0	0	0	2	1	9.676825e-01	6	53	0	19	2								-11.606720	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.780000	0.390000	0.990000	0.970000	0.762596	0.780000	0	5.800000e-01	9.400000e-01
SIPA1L2	57568	broad.mit.edu	37	1	232534934	232534934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232534934G>A	ENST00000366630.1	-	22	5466	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2			103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)			CTGAGCTGTCGCGGTCTGGGA	0.517000																								0							SO:0001583	missense			ENST00000366630.1	1	1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585424	0.86748	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	D;D;T	0.88818	-2.43;-2.43;1.47	4.99	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.83953	2.67	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.95329	0.8428	10	0.87932	D	0	-32.8176	15.5869	0.76491	0.0:0.1381:0.8619:0.0	.	1703;759	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1703;1703;759	ENSP00000355589:A1703V;ENSP00000262861:A1703V;ENSP00000309102:A759V	ENSP00000262861:A1703V	A	-	2	0	SIPA1L2	230601557	1.000000	0.71417	0.082000	0.20525	0.806000	0.45545	9.653000	0.98506	1.319000	0.45190	0.460000	0.39030	GCG		TCGA-IB-7651-01A-11D-2154-08	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	1	0	1	77	213	0	59	1	1	26	75	0	59	2		0	0	0	0	0	2	1	1	77	211	0	59	2								-20.000000	1	1	121080	2	31	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L2	57568	broad.mit.edu	37	1	232596697	232596697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232596697G>T	ENST00000366630.1	-	9	3389	c.3031C>A	c.(3031-3033)Ctc>Atc	p.L1011I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L85I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2			103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)			GAAGTACGGAGCAGGTCGATC	0.602000																								0							SO:0001583	missense			ENST00000366630.1	1	1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540507	0.85917	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.72505	-0.66;-0.66;-0.66	5.64	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.76688	0.4022	L	0.38733	1.17	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77955	-0.2393	10	0.87932	D	0	-23.9498	13.093	0.59176	0.1215:0.0:0.8785:0.0	.	1011;85	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	I	1011;1011;85	ENSP00000355589:L1011I;ENSP00000262861:L1011I;ENSP00000309102:L85I	ENSP00000262861:L1011I	L	-	1	0	SIPA1L2	230663320	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.623000	0.54224	2.816000	0.96949	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	0	0	0	11	351	0	52	1	5.724462e-01	3	56	0	52	2		0	0	0	0	0	2	1	9.982097e-01	11	344	0	50	2								-11.453970	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.390000	0.210000	0.660000	0.390000	0.417035	0.390000	0	2.900000e-01	5.300000e-01
SIPA1L2	57568	broad.mit.edu	37	1	232650124	232650124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650124C>T	ENST00000366630.1	-	2	1320	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2			103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)			ATTCCAAGGGCGAATGCCCCT	0.468000																								0							SO:0001583	missense			ENST00000366630.1	1	1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571675	0.45798	2.56E-4	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.82433	-1.61;-1.61	5.39	4.49	0.54785	.	0.063541	0.64402	D	0.000003	T	0.78168	0.4241	L	0.59436	1.845	0.45899	D	0.998748	B	0.26547	0.152	B	0.23419	0.046	T	0.76570	-0.2911	10	0.62326	D	0.03	-25.2195	8.5231	0.33289	0.0:0.7729:0.0:0.2271	.	321	Q9P2F8	SI1L2_HUMAN	H	321	ENSP00000355589:R321H;ENSP00000262861:R321H	ENSP00000262861:R321H	R	-	2	0	SIPA1L2	230716747	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	0.907000	0.28531	1.517000	0.48917	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	1	0	1	71	346	0	76	1	9.998718e-01	12	54	0	76	2		0	0	0	0	0	2	1	1	71	339	0	76	2								-20.000000	1	0	120884	5	40	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIPA1L2	57568	broad.mit.edu	37	1	232650199	232650199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650199C>T	ENST00000366630.1	-	2	1245	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2			103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)			TTTAACAGTTCGAAGCTTTCG	0.502000																								0							SO:0001583	missense			ENST00000366630.1	1	1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961471	0.74016	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.84442	-1.85;-1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.69358	2.11	0.51767	D	0.999933	D	0.76494	0.999	D	0.67900	0.954	D	0.91448	0.5179	10	0.66056	D	0.02	-24.867	19.6787	0.95950	0.0:1.0:0.0:0.0	.	296	Q9P2F8	SI1L2_HUMAN	Q	296	ENSP00000355589:R296Q;ENSP00000262861:R296Q	ENSP00000262861:R296Q	R	-	2	0	SIPA1L2	230716822	0.975000	0.34042	0.930000	0.37139	0.978000	0.69477	5.694000	0.68272	2.890000	0.99128	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	1	0	1	94	307	0	86	1	9.998818e-01	15	31	0	86	2		0	0	0	0	0	2	1	1	93	305	0	86	2								-4.604653	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCNXL2	80003	broad.mit.edu	37	1	233122221	233122221	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233122221G>A	ENST00000258229.9	-	33	6091	c.5857C>T	c.(5857-5859)Ctg>Ttg	p.L1953L	PCNXL2_ENST00000344698.2_Silent_p.L605L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)			86		all_cancers(173;0.0347)|Prostate(94;0.137)			GATGAGCTCAGCATGGGCGGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000258229.9	0	1	hg19	CCDS44335.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1	13	66	0	14	1	8.151034e-01	4	14	0	14	2		0	0	0	0	0	2	1	9.996902e-01	13	66	0	14	2								-19.999340	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999502	0.990000	1	9.900000e-01	1
PCNXL2	80003	broad.mit.edu	37	1	233134991	233134991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233134991G>A	ENST00000258229.9	-	31	5697	c.5463C>T	c.(5461-5463)tgC>tgT	p.C1821C	PCNXL2_ENST00000344698.2_Silent_p.C473C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)			86		all_cancers(173;0.0347)|Prostate(94;0.137)			GGGGCTGATCGCAGGAGGAGT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000258229.9	1	1	hg19	CCDS44335.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1	30	94	0	22	1	9.766015e-01	3	19	0	22	2		0	0	0	0	0	2	1	1	30	93	0	21	2								-19.996190	1	1	120898	2	29	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCNXL2	80003	broad.mit.edu	37	1	233136143	233136143	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136143G>A	ENST00000258229.9	-	30	5470	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	PCNXL2_ENST00000344698.2_Silent_p.L398L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)			86		all_cancers(173;0.0347)|Prostate(94;0.137)			AGGGTGAGCAGCTCTTCCTTG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000258229.9	0	1	hg19	CCDS44335.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	0	0	0	12	566	0	103	0	2.546988e-02	0	11	0	103	2		0	0	0	0	0	2	1	9.990296e-01	12	556	0	103	2								-9.695969	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.270000	0.140000	0.440000	0.270000	0.284493	0.270000	0	2.000000e-01	3.600000e-01
PCNXL2	80003	broad.mit.edu	37	1	233136192	233136192	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136192G>A	ENST00000258229.9	-	30	5421	c.5187C>T	c.(5185-5187)caC>caT	p.H1729H	PCNXL2_ENST00000344698.2_Silent_p.H381H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)			86		all_cancers(173;0.0347)|Prostate(94;0.137)			GGTCGCCCTCGTGGCAGATGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000258229.9	1	1	hg19	CCDS44335.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	0	53	280	0	55	1	7.156700e-01	3	12	0	55	2		0	0	0	0	0	2	1	1	51	272	0	55	2								-20.000000	1	0	120924	4	36	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCNXL2	80003	broad.mit.edu	37	1	233192981	233192981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233192981G>A	ENST00000258229.9	-	24	4366	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)			86		all_cancers(173;0.0347)|Prostate(94;0.137)			TTCTTACCTGGATCTCTTTCA	0.393000																								0							SO:0001583	missense			ENST00000258229.9	1	1	hg19	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143950	0.37825	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24723	1.84;2.89	5.8	3.9	0.45041	.	0.329396	0.36519	N	0.002548	T	0.22781	0.0550	L	0.46885	1.475	0.80722	D	1	B;B	0.13145	0.003;0.007	B;B	0.14023	0.009;0.01	T	0.03148	-1.1067	10	0.45353	T	0.12	.	10.3576	0.43974	0.0755:0.4085:0.516:0.0	.	1378;30	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	30;1378	ENSP00000340759:P30S;ENSP00000258229:P1378S	ENSP00000258229:P1378S	P	-	1	0	PCNXL2	231259604	0.974000	0.33945	0.999000	0.59377	0.989000	0.77384	0.916000	0.28651	0.769000	0.33313	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1	15	53	0	10	1	7.338643e-01	3	8	0	10	2		0	0	0	0	0	2	1	9.999181e-01	15	51	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
PCNXL2	80003	broad.mit.edu	37	1	233344327	233344327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233344327C>T	ENST00000258229.9	-	13	3034	c.2800G>A	c.(2800-2802)Gtt>Att	p.V934I	PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I|PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)			86		all_cancers(173;0.0347)|Prostate(94;0.137)			CCATACACAACGTAACTGGGA	0.448000																								0							SO:0001583	missense			ENST00000258229.9	1	1	hg19	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	c	5.277	0.236571	0.10023	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.8	-5.52	0.02560	.	.	.	.	.	T	0.46405	0.1391	L	0.42245	1.32	0.09310	N	1	B;B	0.18741	0.03;0.001	B;B	0.12156	0.007;0.001	T	0.31052	-0.9957	9	0.36615	T	0.2	.	14.7768	0.69736	0.0:0.3611:0.0:0.6389	.	233;934	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	I	934;67;103;233	ENSP00000258229:V934I;ENSP00000430820:V67I;ENSP00000429231:V103I;ENSP00000394703:V233I	ENSP00000258229:V934I	V	-	1	0	PCNXL2	231410950	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.854000	0.04299	-1.021000	0.03350	-2.757000	0.00123	GTT		TCGA-IB-7651-01A-11D-2154-08	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	1	0	1	23	264	0	57	1	6.555777e-01	5	22	0	57	2		0	0	0	0	0	2	1	9.999994e-01	23	259	0	56	2								-20.000000	1	1	120862	3	37	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.670000	1.000000	1.000000	0.941454	0.990000	1	8.300000e-01	1
KCNK1	3775	broad.mit.edu	37	1	233802529	233802529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802529G>A	ENST00000366621.3	+	2	712	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1			11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)		Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GGTGGCCATCGTCCATGCCGT	0.607000																								0							SO:0001583	missense			ENST00000366621.3	1	1	hg19	CCDS1599.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.11	1.259144	0.23051	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97430	1.92;-4.38;-4.38	5.91	4.81	0.61882	.	0.308108	0.36134	N	0.002768	D	0.88731	0.6516	N	0.03324	-0.35	0.36554	D	0.872027	B	0.11235	0.004	B	0.06405	0.002	D	0.84840	0.0807	10	0.07482	T	0.82	.	10.5251	0.44943	0.141:0.0:0.859:0.0	.	182	O00180	KCNK1_HUMAN	I	182;66;100	ENSP00000355580:V182I;ENSP00000355579:V66I;ENSP00000409626:V100I	ENSP00000355579:V66I	V	+	1	0	KCNK1	231869152	0.998000	0.40836	0.842000	0.33263	0.552000	0.35366	3.077000	0.50089	2.793000	0.96121	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	1	0	1	146	338	0	58	1	1	243	207	0	58	2		0	0	0	0	0	2	1	1	140	334	0	57	2								-20.000000	1	0	121412	2	35	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK1	3775	broad.mit.edu	37	1	233802583	233802583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802583G>A	ENST00000366621.3	+	2	766	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1			11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)		Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CTTCATCCCGGCCGCTGTCTT	0.532000																								0							SO:0001583	missense			ENST00000366621.3	1	1	hg19	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331415	0.95733	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.98400	1.41;-4.91;-4.91	5.7	5.7	0.88788	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99806	1.1038	10	0.59425	D	0.04	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	200	O00180	KCNK1_HUMAN	T	200;84;118	ENSP00000355580:A200T;ENSP00000355579:A84T;ENSP00000409626:A118T	ENSP00000355579:A84T	A	+	1	0	KCNK1	231869206	1.000000	0.71417	0.281000	0.24762	0.877000	0.50540	9.612000	0.98347	2.683000	0.91414	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	1	0	1	96	545	0	86	1	1	189	367	0	86	2		0	0	0	0	0	2	1	1	94	535	0	86	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK1	3775	broad.mit.edu	37	1	233807174	233807174	+	Silent	SNP	G	G	A	rs147325030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233807174G>A	ENST00000366621.3	+	3	1077	c.909G>A	c.(907-909)tcG>tcA	p.S303S	KCNK1_ENST00000366620.1_Silent_p.S187S|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1			11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)		Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CCTTCTCCTCGATCACAGACC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000366621.3	1	0	hg19	CCDS1599.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	1	0	1	57	182	0	47	1	1	245	177	0	47	2		0	0	0	0	0	2	1	1	56	178	0	47	2								-2.348006	0	1	121412	294	56	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35F3	148641	broad.mit.edu	37	1	234041356	234041356	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234041356G>T	ENST00000366618.3	+	2	280	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3			32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		AGTACTTGGTGGTGGACGAGG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000366618.3	1	1	hg19	CCDS1600.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	1	0	1	106	367	0	43	1	4.062068e-01	2	4	0	43	2		0	0	0	0	0	2	1	1	105	360	0	42	2								-4.263155	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM1A	23028	broad.mit.edu	37	1	23409708	23409708	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23409708A>C	ENST00000356634.3	+	19	2559	c.2410A>C	c.(2410-2412)Atc>Ctc	p.I804L	KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L|KDM1A_ENST00000400181.4_Missense_Mutation_p.I828L|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A			23					AGAACATACGATCCGTAACTA	0.483000																								0							SO:0001583	missense			ENST00000356634.3	1	1	hg19	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731644	0.89390	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.92911	-3.13;-3.13;-3.13	5.67	5.67	0.87782	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.65975	2.015	0.80722	D	1	P;P	0.48016	0.802;0.904	P;P	0.58721	0.643;0.844	D	0.94022	0.7293	10	0.42905	T	0.14	-13.296	15.0953	0.72229	1.0:0.0:0.0:0.0	.	828;804	O60341-2;O60341	.;KDM1A_HUMAN	L	804;828;828	ENSP00000349049:I804L;ENSP00000383042:I828L;ENSP00000439072:I828L	ENSP00000349049:I804L	I	+	1	0	KDM1A	23282295	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.252000	0.95491	2.156000	0.67533	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	0	0	1	84	332	0	77	1	1	66	154	0	77	2		0	0	0	0	0	2	1	1	84	327	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.984917	0.980000	1	9.600000e-01	1
LUZP1	7798	broad.mit.edu	37	1	23419834	23419834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23419834C>T	ENST00000302291.4	-	4	1722	c.921G>A	c.(919-921)tcG>tcA	p.S307S	LUZP1_ENST00000314174.5_Silent_p.S307S|LUZP1_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000374623.3_Silent_p.S307S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1			31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)			CTTCTTCCAACGATTCAAAGT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000302291.4	1	1	hg19	CCDS30628.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	1	0	1	57	504	0	98	1	9.937072e-01	11	59	0	98	2		0	0	0	0	0	2	1	1	56	499	0	98	2								-17.909700	1	1	121412	2	33	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.930000	0.770000	1.000000	0.990000	0.928564	0.930000	1	8.600000e-01	9.900000e-01
TARBP1	6894	broad.mit.edu	37	1	234529405	234529405	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234529405C>T	ENST00000040877.1	-	27	4421	c.4422G>A	c.(4420-4422)ccG>ccA	p.P1474P	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1			55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		CTAAATTGGTCGGTTTGTCGA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000040877.1	1	1	hg19	CCDS1601.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	1	0	1	110	282	0	68	1	1	25	44	0	68	2		0	0	0	0	0	2	1	1	106	275	0	68	2								-7.218145	1	1	121412	2	35	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TARBP1	6894	broad.mit.edu	37	1	234586199	234586199	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234586199C>T	ENST00000040877.1	-	10	1835	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1			55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		ACTTAACATACTCTTGAACAA	0.328000																								0							SO:0001819	synonymous_variant			ENST00000040877.1	1	1	hg19	CCDS1601.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	1	0	1	29	211	0	49	1	8.871261e-01	10	20	0	49	2		0	0	0	0	0	2	1	1	29	207	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999350	0.990000	1	9.900000e-01	1
TARBP1	6894	broad.mit.edu	37	1	234603362	234603362	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234603362A>G	ENST00000040877.1	-	4	1133	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1			55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		TTTTATAAATACACATATGCC	0.353000																								0							SO:0001819	synonymous_variant			ENST00000040877.1	1	1	hg19	CCDS1601.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	1	0	1	49	152	0	28	1	9.394526e-01	3	14	0	28	2		0	0	0	0	0	2	1	1	48	151	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF2BP2	359948	broad.mit.edu	37	1	234743036	234743036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743036G>A	ENST00000366609.3	-	2	1641	c.1611C>T	c.(1609-1611)agC>agT	p.S537S	IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Silent_p.S521S|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2			11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		GCTGTTTGATGCTTTGTCTGG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000366609.3	1	1	hg19	CCDS1602.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	1	0	0	156	508	0	113	1	1	234	600	0	113	2		0	0	0	0	0	2	1	1	155	501	0	112	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF2BP2	359948	broad.mit.edu	37	1	234743289	234743289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743289C>A	ENST00000366609.3	-	2	1388	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2			11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		GTTGCTATTCCTCCTGGTAGT	0.587000																								0							SO:0001583	missense			ENST00000366609.3	1	1	hg19	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088416	0.76756	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.34667	1.35;1.37	5.64	5.64	0.86602	.	0.050043	0.85682	D	0.000000	T	0.61123	0.2322	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.58819	-0.7569	10	0.48119	T	0.1	-10.4175	19.6878	0.95987	0.0:1.0:0.0:0.0	.	453;437	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	M	437;453	ENSP00000355569:R437M;ENSP00000355568:R453M	ENSP00000355568:R453M	R	-	2	0	IRF2BP2	232809912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.341000	0.79300	2.670000	0.90874	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	1	0	1	173	955	0	176	1	1	168	498	0	176	2		0	0	0	0	0	2	1	1	171	936	0	173	2								-2.690418	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF2BP2	359948	broad.mit.edu	37	1	234744193	234744193	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234744193C>T	ENST00000366609.3	-	1	1078	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Intron|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2			11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		CCGCCCCTACCTGCTTTAGAC	0.592000																								0							SO:0001630	splice_region_variant			ENST00000366609.3	0	1	hg19	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085298	0.55861	.	.	ENSG00000168264	ENST00000366609	T	0.30448	1.53	4.94	4.04	0.47022	.	0.300208	0.33346	N	0.005013	T	0.19327	0.0464	N	0.19112	0.55	0.36995	D	0.894995	B	0.02656	0.0	B	0.04013	0.001	T	0.10613	-1.0622	9	.	.	.	-0.4825	12.9904	0.58616	0.0:0.9211:0.0:0.0789	.	350	Q7Z5L9	I2BP2_HUMAN	I	350	ENSP00000355568:V350I	.	V	-	1	0	IRF2BP2	232810816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.149000	0.64863	1.291000	0.44653	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	0	0	0	9	74	0	14	0	9.999879e-01	0	226	0	14	2		0	0	0	0	0	2	1	9.938188e-01	9	70	0	13	2								-15.717000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.710000	1.000000	1.000000	0.977104	0.990000	1	9.900000e-01	1
HTR1D	3352	broad.mit.edu	37	1	23519707	23519707	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23519707C>A	ENST00000374619.1	-	1	1515	c.1006G>T	c.(1006-1008)Gcg>Tcg	p.A336S	HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled			9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCAAAGAGCGCCGGGTGGATC	0.512000																								0							SO:0001583	missense			ENST00000374619.1	1	1	hg19	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100115	0.20552	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.37058	1.22;1.22	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.395173	0.26499	N	0.024039	T	0.26340	0.0643	N	0.25094	0.71	0.32500	N	0.538982	B	0.27166	0.17	B	0.39339	0.297	T	0.34925	-0.9809	10	0.10111	T	0.7	.	7.2503	0.26146	0.0:0.7326:0.174:0.0934	.	336	P28221	5HT1D_HUMAN	S	336	ENSP00000313661:A336S;ENSP00000363748:A336S	ENSP00000313661:A336S	A	-	1	0	HTR1D	23392294	0.973000	0.33851	0.991000	0.47740	0.946000	0.59487	2.543000	0.45752	2.518000	0.84900	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	1	0	1	115	437	0	99	1	9.991452e-01	28	14	0	99	2		0	0	0	0	0	2	1	1	113	429	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989919	0.980000	1	9.700000e-01	1
ARID4B	51742	broad.mit.edu	37	1	235345456	235345456	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235345456A>G	ENST00000264183.3	-	20	3275	c.2778T>C	c.(2776-2778)gaT>gaC	p.D926D	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Silent_p.D926D|ARID4B_ENST00000349213.3_Silent_p.D840D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)			8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		TTGACCAGACATCTTTTCGAT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000264183.3	1	1	hg19	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	5.644	0.303425	0.10678	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.63	-0.905	0.10527	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-20.0254	10.6774	0.45794	0.5946:0.0:0.4054:0.0	.	.	.	.	T	326	.	.	M	-	2	0	ARID4B	233412079	0.933000	0.31639	0.997000	0.53966	0.997000	0.91878	0.138000	0.16016	-0.170000	0.10816	0.477000	0.44152	ATG		TCGA-IB-7651-01A-11D-2154-08	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	1	0	1	213	569	0	95	1	1	35	111	0	95	2		0	0	0	0	0	2	1	1	206	560	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARID4B	51742	broad.mit.edu	37	1	235359344	235359344	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359344A>G	ENST00000264183.3	-	18	2424		c.e18+1		ARID4B_ENST00000366603.2_Splice_Site|ARID4B_ENST00000349213.3_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)			8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		ACAAGCACTTACCTTTATTTT	0.294000																								0							SO:0001630	splice_region_variant			ENST00000264183.3	1	1	hg19	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391584	0.83011	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000444620;ENST00000439834	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4757	0.75478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARID4B	233425967	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.442000	0.90317	2.197000	0.70478	0.477000	0.44152	.		TCGA-IB-7651-01A-11D-2154-08	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	1	0	1	30	174	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	30	171	0	64	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
ARID4B	51742	broad.mit.edu	37	1	235359427	235359427	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359427G>A	ENST00000264183.3	-	18	2342	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ARID4B_ENST00000366603.2_Silent_p.Y615Y|ARID4B_ENST00000349213.3_Silent_p.Y529Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)			8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		TCCATTCATCGTATCTAAAAT	0.274000																								0							SO:0001819	synonymous_variant			ENST00000264183.3	1	1	hg19	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107998	0.08780	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.45	-0.742	0.11108	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53968	-0.8363	4	.	.	.	-14.7718	10.9931	0.47561	0.5709:0.0:0.4291:0.0	.	.	.	.	M	15	.	.	T	-	2	0	ARID4B	233426050	0.998000	0.40836	0.998000	0.56505	0.652000	0.38707	0.752000	0.26362	-0.085000	0.12573	-0.482000	0.04802	ACG		TCGA-IB-7651-01A-11D-2154-08	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	1	0	1	30	189	0	61	1	9.998637e-01	18	72	0	61	2		0	0	0	0	0	2	1	1	30	186	0	61	2								-14.551590	1	0	121344	2	32	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
B3GALNT2	148789	broad.mit.edu	37	1	235617568	235617568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235617568C>T	ENST00000366600.3	-	10	1439	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2			18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		GTAAGCGGGGCTCGGGTACTC	0.507000																								0							SO:0001583	missense			ENST00000366600.3	1	1	hg19	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318292	0.95682	.	.	ENSG00000162885	ENST00000366600	T	0.55052	0.54	5.93	5.93	0.95920	.	0.123054	0.85682	D	0.000000	T	0.71970	0.3403	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68006	-0.5523	10	0.41790	T	0.15	-18.5104	20.3398	0.98759	0.0:1.0:0.0:0.0	.	404	Q8NCR0	B3GL2_HUMAN	N	404	ENSP00000355559:S404N	ENSP00000355559:S404N	S	-	2	0	B3GALNT2	233684191	1.000000	0.71417	0.094000	0.20943	0.860000	0.49131	7.440000	0.80464	2.811000	0.96726	0.557000	0.71058	AGC		TCGA-IB-7651-01A-11D-2154-08	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	1	0	1	61	362	0	85	1	9.978837e-01	21	36	0	85	2		0	0	0	0	0	2	1	1	60	347	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B3GALNT2	148789	broad.mit.edu	37	1	235647766	235647766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235647766G>A	ENST00000366600.3	-	4	655	c.427C>T	c.(427-429)Cga>Tga	p.R143*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2			18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		CTGACAACTCGATCCTCAGGC	0.448000																								0							SO:0001587	stop_gained			ENST00000366600.3	0	1	hg19	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	G	37	6.163459	0.97338	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	.	.	.	4.74	4.74	0.60224	.	0.909002	0.09563	N	0.785247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8663	11.6206	0.51115	0.0:0.0:0.7763:0.2237	.	.	.	.	X	184;143;184	.	ENSP00000315678:R184X	R	-	1	2	B3GALNT2	233714389	0.992000	0.36948	0.943000	0.38184	0.574000	0.36063	2.212000	0.42835	2.582000	0.87167	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	1	0	1	245	743	0	213	1	9.995960e-01	8	29	0	213	2		0	0	0	0	0	2	1	1	242	735	0	211	2								-20.000000	1	1	121412	1	38	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235826308	235826308	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235826308G>A	ENST00000389794.3	-	53	11512	c.11338C>T	c.(11338-11340)Cgg>Tgg	p.R3780W	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3780W			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		TGGTCCTTCCGACACCAGGCA	0.453000																								0							SO:0001583	missense			ENST00000389794.3	1	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974511	0.92919	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28666	1.6;1.6	5.87	4.94	0.65067	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056042	0.64402	D	0.000001	T	0.41143	0.1146	N	0.16833	0.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48433	-0.9036	10	0.87932	D	0	.	16.154	0.81644	0.0:0.0:0.8655:0.1345	.	3780	Q99698	LYST_HUMAN	W	3780	ENSP00000374444:R3780W;ENSP00000374443:R3780W	ENSP00000374443:R3780W	R	-	1	2	LYST	233892931	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.789000	0.85783	1.443000	0.47586	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1	161	506	0	134	1	9.903187e-01	4	21	0	134	2		0	0	0	0	0	2	1	1	160	499	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235909723	235909723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235909723C>T	ENST00000389794.3	-	29	8059	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	LYST_ENST00000389793.2_Missense_Mutation_p.E2629K			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		CTAGGGTTCTCTTGGCTCATT	0.438000																								0							SO:0001583	missense			ENST00000389794.3	1	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763587	0.69878	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66099	-0.19;-0.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.70595	2.14	0.80722	D	1	P	0.38617	0.64	B	0.33960	0.173	T	0.66937	-0.5797	10	0.45353	T	0.12	.	18.7145	0.91670	0.0:1.0:0.0:0.0	.	2629	Q99698	LYST_HUMAN	K	2629	ENSP00000374444:E2629K;ENSP00000374443:E2629K	ENSP00000374443:E2629K	E	-	1	0	LYST	233976346	1.000000	0.71417	0.859000	0.33776	0.424000	0.31475	7.420000	0.80191	2.413000	0.81919	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1	72	320	0	48	1	9.557654e-01	3	22	0	48	2		0	0	0	0	0	2	1	1	71	317	0	48	2								-3.030102	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235952092	235952092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235952092C>T	ENST00000389794.3	-	13	4771	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	LYST_ENST00000389793.2_Missense_Mutation_p.E1533K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		CATCCTTCTTCTATGAGTCTT	0.393000																								0							SO:0001583	missense			ENST00000389794.3	1	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288043	0.95517	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62232	0.04;0.04	5.49	5.49	0.81192	.	5.737730	0.00166	N	0.000009	T	0.76054	0.3934	L	0.56769	1.78	0.80722	D	1	D	0.58268	0.982	P	0.52909	0.713	T	0.61691	-0.7011	10	0.48119	T	0.1	.	17.5709	0.87934	0.0:1.0:0.0:0.0	.	1533	Q99698	LYST_HUMAN	K	1533	ENSP00000374444:E1533K;ENSP00000374443:E1533K	ENSP00000374443:E1533K	E	-	1	0	LYST	234018715	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.646000	0.74348	2.585000	0.87301	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1	58	159	0	48	1	8.677320e-01	4	8	0	48	2		0	0	0	0	0	2	1	1	57	158	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235955384	235955384	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235955384A>G	ENST00000389794.3	-	12	4332	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	LYST_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		TCATAGTAGTATCACTTTCAA	0.323000																								0							SO:0001819	synonymous_variant			ENST00000389794.3	1	1	hg19	CCDS31062.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1	71	335	0	73	0	1.466164e-01	1	3	0	73	2		0	0	0	0	0	2	1	1	71	328	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235964335	235964335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235964335C>T	ENST00000389794.3	-	9	3949	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	LYST_ENST00000389793.2_Missense_Mutation_p.E1259K|LYST_ENST00000536965.1_Missense_Mutation_p.E1259K			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		GTGAGGTTTTCGAGTAAGTCA	0.383000																								0							SO:0001583	missense			ENST00000389794.3	1	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488528	0.84854	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62788	0.0;0.0;1.15	5.86	4.95	0.65309	.	0.382888	0.30630	N	0.009210	T	0.71634	0.3363	L	0.43152	1.355	0.42271	D	0.992054	D;P	0.89917	1.0;0.528	D;B	0.80764	0.994;0.031	T	0.73566	-0.3942	10	0.52906	T	0.07	.	13.5533	0.61745	0.0:0.928:0.0:0.072	.	1259;1259	Q99698-3;Q99698	.;LYST_HUMAN	K	1259	ENSP00000374444:E1259K;ENSP00000374443:E1259K;ENSP00000438315:E1259K	ENSP00000374443:E1259K	E	-	1	0	LYST	234030958	0.869000	0.29996	0.800000	0.32199	0.934000	0.57294	1.500000	0.35682	1.617000	0.50277	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1	67	389	0	111	0	1.627847e-01	0	5	0	111	2		0	0	0	0	0	2	1	1	67	380	0	110	2								-20.000000	1	1	121412	3	36	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235969949	235969949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235969949C>A	ENST00000389794.3	-	6	2661	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	LYST_ENST00000389793.2_Missense_Mutation_p.E829D|LYST_ENST00000536965.1_Missense_Mutation_p.E829D			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		CTTTCTGTTGCTCCCCTAGGC	0.378000																								0							SO:0001583	missense			ENST00000389794.3	1	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920571	0.33908	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63744	-0.06;-0.06;1.09	5.44	-1.1	0.09872	.	0.686203	0.15663	N	0.250785	T	0.66567	0.2802	L	0.57536	1.79	0.30384	N	0.781676	D;B	0.76494	0.999;0.004	D;B	0.79784	0.993;0.006	T	0.60821	-0.7187	10	0.34782	T	0.22	.	3.4377	0.07452	0.1084:0.3777:0.1108:0.4031	.	829;829	Q99698-3;Q99698	.;LYST_HUMAN	D	829	ENSP00000374444:E829D;ENSP00000374443:E829D;ENSP00000438315:E829D	ENSP00000374443:E829D	E	-	3	2	LYST	234036572	0.003000	0.15002	0.994000	0.49952	0.993000	0.82548	-1.448000	0.02394	-0.148000	0.11234	-0.312000	0.09012	GAG		TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1	239	842	0	165	0	6.247585e-01	1	8	0	165	2		0	0	0	0	0	2	1	1	237	829	0	165	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235970023	235970023	+	Missense_Mutation	SNP	C	C	T	rs80338647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235970023C>T	ENST00000389794.3	-	6	2587	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	LYST_ENST00000389793.2_Missense_Mutation_p.E805K|LYST_ENST00000536965.1_Missense_Mutation_p.E805K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	p.E805K(1)		162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		CAATTTAATTCGATTATTTGA	0.318000																								1	Substitution - Missense(1)	GRCh37	CD075459	LYST	D	rs80338647	SO:0001583	missense			ENST00000389794.3	1	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171114	0.94807	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.1	5.44	5.44	0.79542	.	0.101671	0.64402	D	0.000002	T	0.76176	0.3951	M	0.62723	1.935	0.80722	D	1	P;D	0.89917	0.888;1.0	B;D	0.66196	0.327;0.942	T	0.72843	-0.4170	10	0.32370	T	0.25	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	805;805	Q99698-3;Q99698	.;LYST_HUMAN	K	805	ENSP00000374444:E805K;ENSP00000374443:E805K;ENSP00000438315:E805K	ENSP00000374443:E805K	E	-	1	0	LYST	234036646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.585000	0.87301	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	0	39	371	0	66	0	2.695906e-02	0	3	0	66	2		0	0	0	0	0	2	1	1	38	369	0	66	2								-13.034540	1	0	121398	5	36	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.880000	1.000000	1.000000	0.992446	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235972089	235972089	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235972089T>C	ENST00000389794.3	-	5	2203	c.2029A>G	c.(2029-2031)Atc>Gtc	p.I677V	LYST_ENST00000389793.2_Missense_Mutation_p.I677V|LYST_ENST00000536965.1_Missense_Mutation_p.I677V			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		CTGGGCAGGATCCCTTGAAAT	0.408000																								0							SO:0001583	missense			ENST00000389794.3	1	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017098	0.35606	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68624	-0.34;-0.34;1.11	5.4	4.28	0.50868	.	0.289633	0.33023	N	0.005373	T	0.60366	0.2263	M	0.62723	1.935	0.48511	D	0.999667	B;B	0.17038	0.005;0.02	B;B	0.16289	0.01;0.015	T	0.53479	-0.8433	10	0.19147	T	0.46	.	11.144	0.48419	0.0:0.0727:0.0:0.9273	.	677;677	Q99698-3;Q99698	.;LYST_HUMAN	V	677	ENSP00000374444:I677V;ENSP00000374443:I677V;ENSP00000438315:I677V	ENSP00000374443:I677V	I	-	1	0	LYST	234038712	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.213000	0.51153	0.890000	0.36211	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1	65	292	0	61	1	7.527508e-01	3	11	0	61	2		0	0	0	0	0	2	1	1	63	282	0	61	2								-20.000000	1	1	121400	6	38	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYST	1130	broad.mit.edu	37	1	235973135	235973135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235973135A>C	ENST00000389794.3	-	5	1157	c.983T>G	c.(982-984)tTt>tGt	p.F328C	LYST_ENST00000389793.2_Missense_Mutation_p.F328C|LYST_ENST00000536965.1_Missense_Mutation_p.F328C			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		CACTGTTCGAAAGAGCATCCT	0.448000																								0							SO:0001583	missense			ENST00000389794.3	1	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175695	0.57692	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.15017	2.46;2.46;2.46	5.49	3.12	0.35913	.	0.194698	0.47455	D	0.000228	T	0.27241	0.0668	L	0.44542	1.39	0.32441	N	0.546732	D;D	0.76494	0.999;0.996	D;P	0.65443	0.935;0.847	T	0.26950	-1.0088	10	0.87932	D	0	.	7.258	0.26187	0.7988:0.0:0.0706:0.1306	.	328;328	Q99698-3;Q99698	.;LYST_HUMAN	C	328	ENSP00000374444:F328C;ENSP00000374443:F328C;ENSP00000438315:F328C	ENSP00000374443:F328C	F	-	2	0	LYST	234039758	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.269000	0.65542	0.980000	0.38523	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	1	0	1	65	155	0	34	0	2.120665e-01	0	3	0	34	2		0	0	0	0	0	2	1	1	62	153	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NID1	4811	broad.mit.edu	37	1	236141260	236141260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236141260G>A	ENST00000264187.6	-	20	3733	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	NID1_ENST00000366595.3_Silent_p.G1084G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	p.G1217G(1)		66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	Urokinase(DB00013)	GGGTGCAGCCGCCATTGTTCA	0.512000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000264187.6	1	1	hg19	CCDS1608.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	1	38	337	0	79	0	1	0	327	0	79	2		0	0	0	0	0	2	1	1	37	324	0	77	2								-3.221884	1	1	121412	11	42	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.940000	1.000000	1.000000	0.996535	0.990000	1	9.900000e-01	1
NID1	4811	broad.mit.edu	37	1	236157030	236157030	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157030G>A	ENST00000264187.6	-	13	2752	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	NID1_ENST00000366595.3_Silent_p.H757H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1			66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	Urokinase(DB00013)	CGGTGCTGCCGTGGCACTGGG	0.711000																								0							SO:0001819	synonymous_variant			ENST00000264187.6	1	1	hg19	CCDS1608.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	1	47	125	0	16	0	1	1	106	0	16	2		0	0	0	0	0	2	1	1	47	124	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NID1	4811	broad.mit.edu	37	1	236157147	236157147	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157147G>A	ENST00000264187.6	-	13	2635	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	NID1_ENST00000366595.3_Silent_p.H718H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1			66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	Urokinase(DB00013)	GTTCTCGCTCGTGCTGGCACC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000264187.6	1	1	hg19	CCDS1608.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	0	13	192	0	24	0	9.994620e-01	0	197	0	24	2		0	0	0	0	0	2	1	9.995725e-01	13	191	0	23	2								-16.725530	1	1	121394	1	28	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.820000	0.460000	1.000000	1.000000	0.814421	0.820000	0	6.200000e-01	1
NID1	4811	broad.mit.edu	37	1	236205427	236205427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236205427C>A	ENST00000264187.6	-	4	1000	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NID1_ENST00000366595.3_Missense_Mutation_p.E306D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1			66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	Urokinase(DB00013)	TGCCCACATCCTCCAGGCCCA	0.607000																								0							SO:0001583	missense			ENST00000264187.6	1	1	hg19	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	1.974	-0.435723	0.04636	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88277	-1.7;-2.36	5.81	0.73	0.18271	.	1.175610	0.05899	N	0.629702	T	0.80287	0.4595	N	0.25890	0.77	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.002	T	0.61317	-0.7087	10	0.22109	T	0.4	.	5.3998	0.16288	0.0:0.507:0.1321:0.361	.	306;306	P14543-2;P14543	.;NID1_HUMAN	D	306	ENSP00000264187:E306D;ENSP00000355554:E306D	ENSP00000264187:E306D	E	-	3	2	NID1	234272050	0.002000	0.14202	0.028000	0.17463	0.143000	0.21401	-0.349000	0.07731	-0.103000	0.12175	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	1	223	666	0	145	0	1	0	215	0	145	2		0	0	0	0	0	2	1	1	218	652	0	143	2								-7.209899	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NID1	4811	broad.mit.edu	37	1	236212087	236212087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212087G>A	ENST00000264187.6	-	2	510	c.428C>T	c.(427-429)cCg>cTg	p.P143L	NID1_ENST00000366595.3_Missense_Mutation_p.P143L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1			66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	Urokinase(DB00013)	AGAGATCTCCGGGAACCCTCT	0.577000																								0							SO:0001583	missense			ENST00000264187.6	1	1	hg19	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257823	0.59321	0.0	4.65E-4	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.23348	1.91;1.91	4.81	3.9	0.45041	Nidogen, extracellular domain (2);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.817	T	0.57991	-0.7715	10	0.66056	D	0.02	.	13.0868	0.59146	0.0774:0.0:0.9226:0.0	.	143;143	P14543-2;P14543	.;NID1_HUMAN	L	143	ENSP00000264187:P143L;ENSP00000355554:P143L	ENSP00000264187:P143L	P	-	2	0	NID1	234278710	1.000000	0.71417	0.862000	0.33874	0.736000	0.42039	6.526000	0.73799	1.255000	0.44051	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	1	0	1	84	219	0	52	0	1	0	313	0	52	2		0	0	0	0	0	2	1	1	82	218	0	52	2								-6.078284	1	0	121412	21	43	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR137B	7107	broad.mit.edu	37	1	236343188	236343188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236343188G>A	ENST00000366592.3	+	4	788	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B			16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		GGGCTCCTCCGTGTGTCAAGT	0.552000																								0							SO:0001583	missense			ENST00000366592.3	1	1	hg19	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635166	0.67130	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162	T;T;T	0.52526	0.66;1.99;0.74	5.52	5.52	0.82312	.	0.055961	0.64402	D	0.000001	T	0.70168	0.3193	M	0.72118	2.19	0.43043	D	0.994631	B;D	0.89917	0.063;1.0	B;D	0.87578	0.019;0.998	T	0.72077	-0.4399	10	0.72032	D	0.01	-15.3153	19.8119	0.96549	0.0:0.0:1.0:0.0	.	96;233	Q5TAF1;O60478	.;G137B_HUMAN	M	233;142;232;15	ENSP00000355551:V233M;ENSP00000355550:V142M;ENSP00000401841:V15M	ENSP00000355550:V142M	V	+	1	0	GPR137B	234409811	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.482000	0.81143	2.756000	0.94617	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	1	0	1	193	625	0	130	1	1	38	162	0	130	2		0	0	0	0	0	2	1	1	190	614	0	130	2								-20.000000	1	1	121376	5	50	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR137B	7107	broad.mit.edu	37	1	236347193	236347193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236347193C>A	ENST00000366592.3	+	5	1044	c.953C>A	c.(952-954)cCt>cAt	p.P318H	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B			16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		GTTAGAAATCCTACAAAGGAC	0.363000																								0							SO:0001583	missense			ENST00000366592.3	1	1	hg19	CCDS1609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748292|3.748292	0.69533|0.69533	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000454895|ENST00000366592;ENST00000391852;ENST00000419162	.|T;T	.|0.54866	.|0.55;0.7	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.110179	.|0.64402	.|D	.|0.000006	T|T	0.72028|0.72028	0.3410|0.3410	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.975;0.996	.|P;P	.|0.60345	.|0.81;0.873	T|T	0.75844|0.75844	-0.3174|-0.3174	5|10	.|0.87932	.|D	.|0	-3.3371|-3.3371	19.3356|19.3356	0.94316|0.94316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;318	.|Q5TAF1;O60478	.|.;G137B_HUMAN	I|H	182|318;317;100	.|ENSP00000355551:P318H;ENSP00000401841:P100H	.|ENSP00000355551:P318H	L|P	+|+	1|2	2|0	GPR137B|GPR137B	234413816|234413816	0.999000|0.999000	0.42202|0.42202	0.016000|0.016000	0.15963|0.15963	0.723000|0.723000	0.41478|0.41478	7.345000|7.345000	0.79337|0.79337	2.578000|2.578000	0.87016|0.87016	0.650000|0.650000	0.86243|0.86243	CTA|CCT		TCGA-IB-7651-01A-11D-2154-08	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	1	0	0	22	277	0	48	1	9.999002e-01	20	169	0	48	2		0	0	0	0	0	2	1	9.999987e-01	19	275	0	48	2								-2.806923	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.940000	0.610000	1.000000	1.000000	0.903412	0.940000	1	7.600000e-01	1
ERO1LB	56605	broad.mit.edu	37	1	236389686	236389686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236389686C>T	ENST00000354619.5	-	12	1136	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)			23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	Flavin adenine dinucleotide(DB03147)	TGACAAAGCTCGAAGCTCAAT	0.393000																								0							SO:0001583	missense			ENST00000354619.5	1	1	hg19	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006348	0.93287	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.53423	0.62;0.62	5.53	4.6	0.57074	.	0.060072	0.64402	D	0.000002	T	0.69869	0.3159	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73344	-0.4012	10	0.54805	T	0.06	-11.3801	14.7999	0.69906	0.0:0.9294:0.0:0.0706	.	312	Q86YB8	ERO1B_HUMAN	Q	312;37	ENSP00000346635:R312Q;ENSP00000264181:R37Q	ENSP00000264181:R37Q	R	-	2	0	ERO1LB	234456309	1.000000	0.71417	0.683000	0.30040	0.994000	0.84299	5.753000	0.68736	2.609000	0.88269	0.579000	0.79373	CGA		TCGA-IB-7651-01A-11D-2154-08	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	1	0	1	121	265	0	76	1	9.999999e-01	8	46	0	76	2		0	0	0	0	0	2	1	1	117	259	0	76	2								-10.256070	1	1	121412	1	37	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERO1LB	56605	broad.mit.edu	37	1	236399130	236399130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236399130C>T	ENST00000354619.5	-	8	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)			23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	Flavin adenine dinucleotide(DB03147)	ATAAACAGATCGAGGCCTGAA	0.343000																								0							SO:0001583	missense			ENST00000354619.5	1	1	hg19	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.474928	0.43942	.	.	ENSG00000086619	ENST00000354619	T	0.41758	0.99	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.05306	-0.075	0.80722	D	1	B	0.22080	0.064	B	0.20955	0.032	T	0.16660	-1.0395	10	0.06236	T	0.91	-11.014	20.2366	0.98359	0.0:1.0:0.0:0.0	.	211	Q86YB8	ERO1B_HUMAN	Q	211	ENSP00000346635:R211Q	ENSP00000346635:R211Q	R	-	2	0	ERO1LB	234465753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.133000	0.77259	2.792000	0.96026	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	0	0	0	8	270	0	41	0	5.778333e-01	0	63	0	41	2		0	0	0	0	0	2	1	9.890180e-01	8	266	0	41	2								-3.154520	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.380000	0.180000	0.680000	0.360000	0.405484	0.380000	0	2.600000e-01	5.300000e-01
ERO1LB	56605	broad.mit.edu	37	1	236415367	236415367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236415367C>T	ENST00000354619.5	-	4	532	c.331G>A	c.(331-333)Gct>Act	p.A111T	ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)			23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)	Flavin adenine dinucleotide(DB03147)	GAATGCCCAGCTTTTATTCCA	0.323000																								0							SO:0001583	missense			ENST00000354619.5	1	1	hg19	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925860	0.73213	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	D;T	0.82081	-1.57;0.93	5.77	5.77	0.91146	.	0.054456	0.85682	D	0.000000	D	0.83801	0.5333	L	0.41824	1.3	0.49130	D	0.999751	P;B	0.52842	0.956;0.1	P;B	0.53006	0.715;0.155	T	0.80118	-0.1516	10	0.22706	T	0.39	-16.869	18.7696	0.91885	0.0:1.0:0.0:0.0	.	111;111	B4DF57;Q86YB8	.;ERO1B_HUMAN	T	111	ENSP00000346635:A111T;ENSP00000377574:A111T	ENSP00000377574:A111T	A	-	1	0	ERO1LB	234481990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.684000	0.54671	2.729000	0.93468	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	0	0	1	78	250	1	87	1	9.997531e-01	8	52	1	87	4		0	0	0	0	0	2	1	1	76	245	1	86	14								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPR	10236	broad.mit.edu	37	1	23650226	23650226	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23650226C>A	ENST00000374612.1	-	6	622		c.e6-1		HNRNPR_ENST00000427764.2_Splice_Site|HNRNPR_ENST00000478691.1_Splice_Site|HNRNPR_ENST00000606561.1_Splice_Site|HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Splice_Site	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R			19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)			CTACAAATACCTGAAATAAAA	0.398000																								0							SO:0001630	splice_region_variant			ENST00000374612.1	1	1	hg19	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771377	0.69992	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	.	.	.	5.14	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5575	0.56263	0.0:0.9183:0.0:0.0817	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPR	23522813	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.684000	0.84104	1.298000	0.44778	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	1	0	0	26	277	0	56	0	8.100289e-03	0	2	0	56	2		0	0	0	0	0	2	1	9.999999e-01	26	272	0	56	2								-3.017764	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.840000	0.590000	0.990000	0.900000	0.836687	0.840000	0	7.100000e-01	9.500000e-01
HEATR1	55127	broad.mit.edu	37	1	236715314	236715314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236715314C>T	ENST00000366582.3	-	44	6445	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T	RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1			87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		ATCAACTCTGCTAAGAAAGGA	0.358000																								0							SO:0001583	missense			ENST00000366582.3	0	1	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151273	0.94645	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64618	-0.11;-0.11	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.163822	0.52532	D	0.000061	T	0.80597	0.4653	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.75020	0.898;0.985	T	0.83237	-0.0060	10	0.87932	D	0	.	18.6314	0.91361	0.0:1.0:0.0:0.0	.	2030;2111	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	T	2111;2030	ENSP00000355541:A2111T;ENSP00000355540:A2030T	ENSP00000355540:A2030T	A	-	1	0	HEATR1	234781937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.419000	0.80179	2.700000	0.92200	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	0	0	0	11	634	0	131	1	8.816821e-01	4	216	0	131	2		0	0	0	0	0	2	1	9.983352e-01	12	632	0	130	2								-3.233856	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.220000	0.110000	0.370000	0.210000	0.235551	0.220000	0	1.600000e-01	3.000000e-01
HEATR1	55127	broad.mit.edu	37	1	236740213	236740213	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236740213A>G	ENST00000366582.3	-	21	2906	c.2792T>C	c.(2791-2793)gTa>gCa	p.V931A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1			87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		AACTTCTTTTACGGGGCTTCC	0.373000																								0							SO:0001583	missense			ENST00000366582.3	1	1	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	8.980	0.975030	0.18736	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65549	-0.16;-0.13	5.36	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (2);	0.567431	0.18886	N	0.128438	T	0.48003	0.1476	L	0.46157	1.445	0.50813	D	0.999894	B;P	0.45768	0.163;0.866	B;B	0.33254	0.037;0.16	T	0.38972	-0.9636	10	0.28530	T	0.3	.	10.9493	0.47319	0.9265:0.0:0.0735:0.0	.	931;931	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	A	931	ENSP00000355541:V931A;ENSP00000355540:V931A	ENSP00000355540:V931A	V	-	2	0	HEATR1	234806836	0.825000	0.29262	0.015000	0.15790	0.733000	0.41908	5.962000	0.70364	0.891000	0.36235	0.379000	0.24179	GTA		TCGA-IB-7651-01A-11D-2154-08	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1	25	488	0	75	1	7.487138e-01	9	45	0	75	2		0	0	0	0	0	2	1	9.999998e-01	25	482	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.620000	0.410000	0.880000	0.630000	0.640108	0.620000	0	5.100000e-01	7.600000e-01
HEATR1	55127	broad.mit.edu	37	1	236744595	236744595	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236744595A>C	ENST00000366582.3	-	20	2796	c.2682T>G	c.(2680-2682)ctT>ctG	p.L894L	HEATR1_ENST00000366581.2_Silent_p.L894L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1			87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		AGCCCACATAAAGAGCTTGAG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000366582.3	1	1	hg19	CCDS31066.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1	214	542	0	145	1	9.999999e-01	39	21	0	145	2		0	0	0	0	0	2	1	1	209	530	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR1	55127	broad.mit.edu	37	1	236748389	236748389	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236748389G>A	ENST00000366582.3	-	17	2291	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1			87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		GACTCTTATCGCAAATGGAAA	0.398000																								0							SO:0001583	missense			ENST00000366582.3	1	1	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277165	0.59758	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66815	0.01;-0.23	6.08	6.08	0.98989	Armadillo-type fold (1);	0.102560	0.64402	D	0.000003	T	0.63058	0.2479	M	0.64997	1.995	0.80722	D	1	P	0.37731	0.607	B	0.25614	0.062	T	0.68025	-0.5518	10	0.72032	D	0.01	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	726	Q9H583	HEAT1_HUMAN	V	726	ENSP00000355541:A726V;ENSP00000355540:A726V	ENSP00000355540:A726V	A	-	2	0	HEATR1	234815012	1.000000	0.71417	0.972000	0.41901	0.633000	0.38033	4.452000	0.60054	2.894000	0.99253	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	0	21	411	0	76	1	7.648072e-01	3	53	0	76	2		0	0	0	0	0	2	1	9.999968e-01	20	399	0	76	2								-4.641522	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.620000	0.400000	0.900000	0.610000	0.641680	0.620000	0	5.000000e-01	7.700000e-01
HEATR1	55127	broad.mit.edu	37	1	236749565	236749565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236749565G>T	ENST00000366582.3	-	15	2017	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T	HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1			87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		CTTAATAGAGGGTGCAGGGAG	0.308000																								0							SO:0001583	missense			ENST00000366582.3	1	1	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615465	0.66672	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.62105	0.05;0.05	5.42	4.51	0.55191	Armadillo-type fold (1);	0.103033	0.64402	D	0.000002	T	0.75443	0.3850	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74890	-0.3510	10	0.35671	T	0.21	.	14.2206	0.65823	0.0721:0.0:0.9279:0.0	.	635	Q9H583	HEAT1_HUMAN	T	635	ENSP00000355541:P635T;ENSP00000355540:P635T	ENSP00000355540:P635T	P	-	1	0	HEATR1	234816188	1.000000	0.71417	0.504000	0.27639	0.963000	0.63663	5.780000	0.68956	1.423000	0.47198	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1	40	222	0	43	1	9.441603e-01	2	27	0	43	2		0	0	0	0	0	2	1	1	40	216	0	43	2								-3.088145	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HEATR1	55127	broad.mit.edu	37	1	236755883	236755883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236755883G>T	ENST00000366582.3	-	10	1358	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1			87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		CACTTTATTAGAATCCATTTC	0.289000																								0							SO:0001583	missense			ENST00000366582.3	1	1	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512596	0.27123	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.68624	3.36;-0.34	5.25	5.25	0.73442	Armadillo-type fold (1);	0.651120	0.15867	N	0.240715	T	0.65186	0.2667	L	0.50333	1.59	0.80722	D	1	P	0.45474	0.859	B	0.40101	0.319	T	0.70547	-0.4842	10	0.62326	D	0.03	.	18.8399	0.92180	0.0:0.0:1.0:0.0	.	415	Q9H583	HEAT1_HUMAN	Y	415	ENSP00000355541:S415Y;ENSP00000355540:S415Y	ENSP00000355540:S415Y	S	-	2	0	HEATR1	234822506	0.641000	0.27251	0.057000	0.19452	0.292000	0.27327	4.352000	0.59404	2.458000	0.83093	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	1	0	1	11	46	0	19	1	9.518855e-01	18	7	0	19	2		0	0	0	0	0	2	1	9.987747e-01	10	46	0	19	2								-19.956590	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999705	0.990000	1	9.900000e-01	1
ACTN2	88	broad.mit.edu	37	1	236850067	236850067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850067C>A	ENST00000366578.4	+	1	260	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2			86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		CGACCTGCTCCTGGACCCAGC	0.692000																								0							SO:0001583	missense			ENST00000366578.4	1	1	hg19	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475923	0.63737	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.62498	0.02;0.02	3.81	3.81	0.43845	Calponin homology domain (1);	0.000000	0.64402	D	0.000004	T	0.75451	0.3851	M	0.86805	2.84	0.80722	D	1	D;P	0.54964	0.969;0.799	P;B	0.59595	0.86;0.226	T	0.78523	-0.2171	10	0.87932	D	0	.	7.4471	0.27217	0.0:0.8051:0.0:0.1949	.	32;32	B2RCS5;P35609	.;ACTN2_HUMAN	M	32	ENSP00000443495:L32M;ENSP00000355537:L32M	ENSP00000355537:L32M	L	+	1	2	ACTN2	234916690	0.868000	0.29978	0.996000	0.52242	0.932000	0.56968	1.658000	0.37376	1.944000	0.56390	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	1	0	0	37	142	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	37	138	0	21	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTN2	88	broad.mit.edu	37	1	236850076	236850076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850076G>A	ENST00000366578.4	+	1	269	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2			86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		CCTGGACCCAGCCTGGGAGAA	0.701000																								0							SO:0001583	missense			ENST00000366578.4	1	1	hg19	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573356	0.86542	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.59364	0.27;0.27	3.6	2.66	0.31614	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.55743	1.74	0.80722	D	1	B;B	0.27559	0.181;0.03	B;B	0.35470	0.203;0.02	T	0.58629	-0.7603	10	0.87932	D	0	.	12.0331	0.53410	0.0:0.0:0.8257:0.1743	.	35;35	B2RCS5;P35609	.;ACTN2_HUMAN	T	35	ENSP00000443495:A35T;ENSP00000355537:A35T	ENSP00000355537:A35T	A	+	1	0	ACTN2	234916699	1.000000	0.71417	0.991000	0.47740	0.797000	0.45037	8.721000	0.91446	0.670000	0.31165	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	1	0	0	16	153	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999331e-01	16	148	0	20	2								-19.999470	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.730000	1.000000	1.000000	0.974053	0.990000	1	9.500000e-01	1
ACTN2	88	broad.mit.edu	37	1	236902782	236902782	+	Missense_Mutation	SNP	C	C	T	rs1150181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902782C>T	ENST00000366578.4	+	10	1223	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2			86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		GACCAAGCTGCGGATCAGCAA	0.612000																								0							SO:0001583	missense			ENST00000366578.4	1	1	hg19	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019319	0.75275	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.70045	-0.45;-0.45	5.51	-1.38	0.09027	.	0.049402	0.64402	D	0.000001	D	0.84678	0.5525	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.83275	0.989;0.916;0.996	D	0.89354	0.3663	10	0.87932	D	0	.	17.1506	0.86777	0.7646:0.2354:0.0:0.0	.	353;123;353	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	W	353;353;122	ENSP00000443495:R353W;ENSP00000355537:R353W	ENSP00000355537:R353W	R	+	1	2	ACTN2	234969405	0.006000	0.16342	0.998000	0.56505	0.994000	0.84299	-1.101000	0.03336	0.089000	0.17243	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	1	0	1	55	271	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	55	261	0	69	2								-20.000000	1	0	121412	2	31	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTN2	88	broad.mit.edu	37	1	236914912	236914912	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236914912G>A	ENST00000366578.4	+	15	1965	c.1799G>A	c.(1798-1800)aGc>aAc	p.S600N	ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N|ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2			86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		AACCCGTACAGCACTGTCACC	0.582000																								0							SO:0001583	missense			ENST00000366578.4	1	1	hg19	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255226	0.80135	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.50001	0.76;0.76;0.76	4.89	4.89	0.63831	.	0.250491	0.52532	D	0.000075	T	0.65873	0.2733	L	0.54323	1.7	0.58432	D	0.999996	B;B;B;P	0.45531	0.074;0.127;0.217;0.86	B;B;B;D	0.67382	0.31;0.386;0.405;0.951	T	0.68652	-0.5352	10	0.87932	D	0	.	18.0397	0.89315	0.0:0.0:1.0:0.0	.	385;600;370;600	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	600;600;94;369	ENSP00000443495:S600N;ENSP00000355537:S600N;ENSP00000438384:S94N	ENSP00000355537:S600N	S	+	2	0	ACTN2	234981535	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.701000	0.47094	2.265000	0.75225	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	1	0	1	49	270	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	1	49	264	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTR	4548	broad.mit.edu	37	1	237013811	237013811	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237013811A>G	ENST00000366577.5	+	16	2077	c.1683A>G	c.(1681-1683)acA>acG	p.T561T	MTR_ENST00000535889.1_Silent_p.T561T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase			67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCCATGCAACAAAAGTCATTA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000366577.5	1	1	hg19	CCDS1614.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	1	0	1	56	314	0	52	1	9.993084e-01	12	51	0	52	2		0	0	0	0	0	2	1	1	56	309	0	51	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTR	4548	broad.mit.edu	37	1	237054561	237054561	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237054561C>T	ENST00000366577.5	+	29	3530	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	MTR_ENST00000535889.1_Silent_p.L995L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase			67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGACATTCACCTGTACGCAGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000366577.5	1	1	hg19	CCDS1614.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	1	0	0	188	607	0	158	1	1	17	85	0	158	2		0	0	0	0	0	2	1	1	183	594	0	155	2								-5.235044	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTR	4548	broad.mit.edu	37	1	237057675	237057675	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237057675A>G	ENST00000366577.5	+	30	3617	c.3223A>G	c.(3223-3225)Agc>Ggc	p.S1075G	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S1024G	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase			67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGACTCTGCCAGCACGGAGCC	0.572000																								0							SO:0001583	missense			ENST00000366577.5	1	1	hg19	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	7.104	0.574732	0.13623	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;D	0.82984	-0.31;-0.31;-1.67	5.47	4.27	0.50696	Vitamin B12-dependent methionine synthase, activation domain (3);	0.270973	0.39544	N	0.001330	T	0.71550	0.3353	L	0.29908	0.895	0.22896	N	0.998596	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.59621	-0.7420	10	0.38643	T	0.18	-21.5817	8.9147	0.35574	0.6747:0.0:0.0:0.3253	.	1075;1024;1075	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	G	929;1075;1024;629	ENSP00000355536:S1075G;ENSP00000441845:S1024G;ENSP00000355535:S629G	ENSP00000355535:S629G	S	+	1	0	MTR	235124298	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.676000	0.54612	2.205000	0.71048	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	1	0	1	89	253	0	55	1	1	17	57	0	55	2		0	0	0	0	0	2	1	1	87	247	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASAP3	55616	broad.mit.edu	37	1	23758362	23758362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23758362C>T	ENST00000336689.3	-	23	2417	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ASAP3_ENST00000495646.1_Silent_p.E295E|ASAP3_ENST00000437606.2_Silent_p.E782E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3			24					TGCCCAGGCTCTCAGGGGTCT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000336689.3	1	1	hg19	CCDS235.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	1	0	1	78	300	0	73	1	9.943168e-01	4	29	0	73	2		0	0	0	0	0	2	1	1	77	293	0	73	2								-3.762257	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983901	0.980000	1	9.600000e-01	1
ASAP3	55616	broad.mit.edu	37	1	23760792	23760792	+	Missense_Mutation	SNP	C	C	T	rs113419927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23760792C>T	ENST00000336689.3	-	19	1950	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N|ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3			24					TTGAGGCAGTCGGGCTGGTTG	0.582000																								0							SO:0001583	missense			ENST00000336689.3	1	1	hg19	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291951	0.40594	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000437606	T;T;T	0.66099	-0.19;-0.19;-0.19	4.0	3.08	0.35506	Ankyrin repeat-containing domain (4);	0.213938	0.37623	N	0.002014	T	0.45397	0.1340	L	0.28556	0.865	0.39951	D	0.97454	P;P;B;B	0.40066	0.701;0.683;0.379;0.407	B;B;B;B	0.36378	0.076;0.16;0.223;0.151	T	0.49390	-0.8945	10	0.62326	D	0.03	.	8.3007	0.32012	0.0:0.7986:0.0:0.2014	.	627;505;159;636	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	N	159;140;636;627	ENSP00000436150:D140N;ENSP00000338769:D636N;ENSP00000408826:D627N	ENSP00000338769:D636N	D	-	1	0	ASAP3	23633379	0.997000	0.39634	0.980000	0.43619	0.250000	0.25880	3.464000	0.53057	1.027000	0.39758	0.297000	0.19635	GAC		TCGA-IB-7651-01A-11D-2154-08	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	1	0	1	69	330	0	95	1	9.632094e-01	5	23	0	95	2		0	0	0	0	0	2	1	1	67	322	0	92	2								-3.185098	1	1	121412	2	36	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977960	0.980000	1	9.500000e-01	1
RYR2	6262	broad.mit.edu	37	1	237729908	237729908	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237729908C>A	ENST00000366574.2	+	28	3573	c.3256C>A	c.(3256-3258)Cga>Aga	p.R1086R	RYR2_ENST00000542537.1_Silent_p.R1070R|RYR2_ENST00000360064.6_Silent_p.R1084R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		GGAAAGGTTCCGAATCTTCCG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000366574.2	1	1	hg19	CCDS55691.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	0	99	222	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	95	216	0	68	2								-8.974475	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D|RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	p.A1323D(1)		586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		CTCCCTGGGGCTGGCCTTTTT	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000366574.2	1	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.359127	0.61403	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.23	5.23	0.72850	.	0.561410	0.15324	N	0.268379	D	0.92622	0.7656	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.86901	0.2054	10	0.25751	T	0.34	.	19.3556	0.94412	0.0:1.0:0.0:0.0	.	1325	Q92736	RYR2_HUMAN	D	1325;1323;1309	ENSP00000355533:A1325D;ENSP00000353174:A1323D;ENSP00000443798:A1309D	ENSP00000353174:A1323D	A	+	2	0	RYR2	235820729	0.063000	0.20901	0.047000	0.18901	0.981000	0.71138	3.020000	0.49643	2.882000	0.98803	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	181	457	0	119	0	1.964814e-01	0	3	0	119	2		0	0	0	0	0	2	1	1	178	451	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR2	6262	broad.mit.edu	37	1	237777341	237777341	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237777341C>T	ENST00000366574.2	+	37	5230	c.4913C>T	c.(4912-4914)tCt>tTt	p.S1638F	RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F|RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		TTCTACAGATCTGTTGACATC	0.418000																								0							SO:0001583	missense			ENST00000366574.2	1	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953784	0.53293	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96913	-4.17;-4.14;-4.17	5.56	5.56	0.83823	.	0.092047	0.44285	D	0.000463	D	0.92606	0.7651	L	0.32530	0.975	0.80722	D	1	P	0.37864	0.61	B	0.31812	0.136	D	0.93184	0.6577	10	0.87932	D	0	.	15.0638	0.71977	0.0:0.8586:0.1414:0.0	.	1638	Q92736	RYR2_HUMAN	F	1638;1636;1622	ENSP00000355533:S1638F;ENSP00000353174:S1636F;ENSP00000443798:S1622F	ENSP00000353174:S1636F	S	+	2	0	RYR2	235843964	0.980000	0.34600	0.993000	0.49108	0.973000	0.67179	2.512000	0.45485	2.613000	0.88420	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	28	164	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	28	162	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
RYR2	6262	broad.mit.edu	37	1	237780719	237780719	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237780719C>T	ENST00000366574.2	+	38	6166	c.5849C>T	c.(5848-5850)gCc>gTc	p.A1950V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		GTCATGCAAGCCTTAAACATG	0.428000																								0							SO:0001583	missense			ENST00000366574.2	1	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306871	0.95629	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74002	-0.8;-0.8;-0.8	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	D	0.85539	0.5720	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.86757	0.1964	10	0.87932	D	0	.	19.1627	0.93541	0.0:1.0:0.0:0.0	.	1950	Q92736	RYR2_HUMAN	V	1950;1948;1934	ENSP00000355533:A1950V;ENSP00000353174:A1948V;ENSP00000443798:A1934V	ENSP00000353174:A1948V	A	+	2	0	RYR2	235847342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.517000	0.84864	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	58	251	0	74	0	3.648281e-02	0	2	0	74	2		0	0	0	0	0	2	1	1	57	241	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR2	6262	broad.mit.edu	37	1	237796907	237796907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237796907C>A	ENST00000366574.2	+	43	6902	c.6585C>A	c.(6583-6585)aaC>aaA	p.N2195K	RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K|RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		TGGTGGCCAACTGTTGCCGTT	0.393000																								0							SO:0001583	missense			ENST00000366574.2	1	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097651	0.56075	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95137	-3.62;-3.62;-3.62	4.9	3.99	0.46301	Intracellular calcium-release channel (1);	0.074616	0.49916	D	0.000136	D	0.91153	0.7214	N	0.08118	0	0.80722	D	1	D	0.55800	0.973	P	0.61003	0.882	D	0.89626	0.3852	10	0.41790	T	0.15	-19.2027	8.245	0.31682	0.0:0.7581:0.0:0.2419	.	2195	Q92736	RYR2_HUMAN	K	2195;2193;2179	ENSP00000355533:N2195K;ENSP00000353174:N2193K;ENSP00000443798:N2179K	ENSP00000353174:N2193K	N	+	3	2	RYR2	235863530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.273000	0.51623	1.180000	0.42898	0.563000	0.77884	AAC		TCGA-IB-7651-01A-11D-2154-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	185	657	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	182	652	0	126	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR2	6262	broad.mit.edu	37	1	237801716	237801716	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237801716C>T	ENST00000366574.2	+	45	7169	c.6852C>T	c.(6850-6852)ggC>ggT	p.G2284G	RYR2_ENST00000542537.1_Silent_p.G2268G|RYR2_ENST00000360064.6_Silent_p.G2282G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		TGTCTAAGGGCTATCCAGACA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000366574.2	1	1	hg19	CCDS55691.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	145	700	0	145	0	0	0	1	0	145	2		0	0	0	0	0	2	1	1	143	694	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR2	6262	broad.mit.edu	37	1	237886522	237886522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237886522G>T	ENST00000366574.2	+	74	10966	c.10649G>T	c.(10648-10650)aGa>aTa	p.R3550I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I|RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		ACGGTAGAAAGAGTATTGGAT	0.383000																								0							SO:0001583	missense			ENST00000366574.2	1	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916312	0.92249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97089	-4.24;-4.21;-4.23	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000014	D	0.97328	0.9126	M	0.77406	2.37	0.80722	D	1	P	0.49696	0.927	P	0.46758	0.526	D	0.97220	0.9877	10	0.52906	T	0.07	-17.554	20.275	0.98485	0.0:0.0:1.0:0.0	.	3550	Q92736	RYR2_HUMAN	I	3550;3548;3534;505	ENSP00000355533:R3550I;ENSP00000353174:R3548I;ENSP00000443798:R3534I	ENSP00000353174:R3548I	R	+	2	0	RYR2	235953145	1.000000	0.71417	0.838000	0.33150	0.994000	0.84299	9.539000	0.98076	2.800000	0.96347	0.455000	0.32223	AGA		TCGA-IB-7651-01A-11D-2154-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	112	337	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	109	335	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RYR2	6262	broad.mit.edu	37	1	237993907	237993907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237993907G>T	ENST00000366574.2	+	103	15050	c.14733G>T	c.(14731-14733)caG>caT	p.Q4911H	RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		ACACTTTACAGGAGCACAACT	0.458000																								0							SO:0001583	missense			ENST00000366574.2	1	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870785	0.72065	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.09;-4.12	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000011	D	0.93598	0.7956	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	D	0.89771	0.3954	10	0.87932	D	0	-13.8307	19.143	0.93452	0.0:0.0:1.0:0.0	.	4911	Q92736	RYR2_HUMAN	H	4911;4917;4895	ENSP00000355533:Q4911H;ENSP00000353174:Q4917H;ENSP00000443798:Q4895H	ENSP00000353174:Q4917H	Q	+	3	2	RYR2	236060530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.770000	0.47662	2.509000	0.84616	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	144	461	0	111	1	3.429918e-01	2	3	0	111	2		0	0	0	0	0	2	1	1	141	455	0	109	2								-4.963626	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZP4	57829	broad.mit.edu	37	1	238050750	238050750	+	Missense_Mutation	SNP	G	G	A	rs140243550	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238050750G>A	ENST00000366570.4	-	5	823	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	p.A222V(1)|p.A222G(1)		73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		AGGGTTACACGCACTGTCATT	0.517000													NSCLC(166;160 2029 11600 18754 19936)											2	Substitution - Missense(2)						SO:0001583	missense			ENST00000366570.4	1	0	hg19	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	3.074	-0.190522	0.06299	.	.	ENSG00000116996	ENST00000366570	D	0.82433	-1.61	4.93	-8.3	0.01005	Zona pellucida sperm-binding protein (3);	1.364050	0.04810	N	0.435104	T	0.61837	0.2379	N	0.16368	0.405	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.48854	-0.8998	10	0.31617	T	0.26	-0.9556	0.9693	0.01412	0.2043:0.2773:0.3177:0.2008	.	222	Q12836	ZP4_HUMAN	V	222	ENSP00000355529:A222V	ENSP00000355529:A222V	A	-	2	0	ZP4	236117373	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.928000	0.01560	-1.824000	0.01209	-2.892000	0.00095	GCG		TCGA-IB-7651-01A-11D-2154-08	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1	1	0	1	130	367	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	127	358	0	100	2								-2.665753	1	1	121412	196	57	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZP4	57829	broad.mit.edu	37	1	238053923	238053923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238053923G>A	ENST00000366570.4	-	1	171	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	p.R5W(1)		73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		AAAACGCACCGCAGCAGCCAC	0.557000													NSCLC(166;160 2029 11600 18754 19936)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000366570.4	1	1	hg19	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543054	0.27563	0.0	1.16E-4	ENSG00000116996	ENST00000366570	T	0.75260	-0.92	3.64	-2.11	0.07187	.	2.841300	0.01275	N	0.009565	T	0.53690	0.1812	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46665	-0.9175	10	0.62326	D	0.03	5.1698	4.3134	0.10981	0.4909:0.1788:0.3303:0.0	.	5	Q12836	ZP4_HUMAN	W	5	ENSP00000355529:R5W	ENSP00000355529:R5W	R	-	1	2	ZP4	236120546	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.091000	0.11146	-0.416000	0.07473	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1	1	0	1	42	197	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	43	194	0	47	2								-3.409387	1	1	121408	7	36	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRM3	1131	broad.mit.edu	37	1	240070919	240070919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070919C>T	ENST00000255380.4	+	5	947	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	p.T56T(1)		51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACGGTACCACCGATGACCCTC	0.572000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000255380.4	1	1	hg19	CCDS1616.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	1	0	1	120	376	0	92	1	5.940395e-02	2	0	0	92	2		0	0	0	0	0	2	1	1	117	371	0	91	2								-4.408015	1	0	121412	1	31	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRM3	1131	broad.mit.edu	37	1	240072469	240072469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240072469A>G	ENST00000255380.4	+	5	2497	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3			51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAGCAGCAGTACCAGCAGAGA	0.493000																								0							SO:0001583	missense			ENST00000255380.4	1	1	hg19	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226261	0.58668	.	.	ENSG00000133019	ENST00000255380	T	0.37235	1.21	5.58	5.58	0.84498	.	0.202097	0.43919	D	0.000502	T	0.52661	0.1748	M	0.62723	1.935	0.58432	D	0.999991	D	0.69078	0.997	P	0.56865	0.808	T	0.56884	-0.7905	10	0.87932	D	0	-18.9527	15.7553	0.78018	1.0:0.0:0.0:0.0	.	573	P20309	ACM3_HUMAN	C	573	ENSP00000255380:Y573C	ENSP00000255380:Y573C	Y	+	2	0	CHRM3	238139092	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.127000	0.65507	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	1	0	1	50	280	0	77	1	6.109513e-01	4	9	0	77	2		0	0	0	0	0	2	1	1	49	272	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMN2	56776	broad.mit.edu	37	1	240255963	240255963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240255963G>A	ENST00000319653.9	+	1	784	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2			178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		GACATCTATAGCTTCCATTCG	0.627000																								0							SO:0001583	missense			ENST00000319653.9	0	1	hg19	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527126	0.44969	.	.	ENSG00000155816	ENST00000319653	T	0.61274	0.12	3.68	3.68	0.42216	.	0.000000	0.64402	D	0.000001	T	0.72637	0.3485	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77542	-0.2549	10	0.87932	D	0	.	15.9248	0.79609	0.0:0.0:1.0:0.0	.	185	Q9NZ56	FMN2_HUMAN	N	185	ENSP00000318884:S185N	ENSP00000318884:S185N	S	+	2	0	FMN2	238322586	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	8.614000	0.90917	2.046000	0.60703	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	0	0	0	7	322	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	9.804712e-01	7	320	0	69	2								-7.198609	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.280000	0.120000	0.530000	0.270000	0.305465	0.280000	0	1.900000e-01	4.100000e-01
FMN2	56776	broad.mit.edu	37	1	240256573	240256573	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256573A>C	ENST00000319653.9	+	1	1394	c.1164A>C	c.(1162-1164)ggA>ggC	p.G388G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2			178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		AGGCGCAAGGACCTGACGCCC	0.726000																								0							SO:0001819	synonymous_variant			ENST00000319653.9	0	1	hg19	CCDS31069.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	0	0	0	32	148	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	1	32	140	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMN2	56776	broad.mit.edu	37	1	240256734	240256734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256734G>A	ENST00000319653.9	+	1	1555	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2			178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		CAGAGCCCCAGGATCAAGAGG	0.672000																								0							SO:0001583	missense			ENST00000319653.9	1	1	hg19	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101876	0.37048	.	.	ENSG00000155816	ENST00000319653	T	0.80994	-1.44	4.51	3.6	0.41247	.	0.301205	0.27981	N	0.017078	T	0.63768	0.2539	L	0.27053	0.805	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	T	0.54516	-0.8282	10	0.25106	T	0.35	.	4.2569	0.10721	0.1893:0.0:0.5758:0.2349	.	442	Q9NZ56	FMN2_HUMAN	K	442	ENSP00000318884:R442K	ENSP00000318884:R442K	R	+	2	0	FMN2	238323357	0.974000	0.33945	1.000000	0.80357	0.976000	0.68499	1.751000	0.38339	1.105000	0.41606	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	1	0	0	122	404	0	91	0	5.439954e-02	0	2	0	91	2		0	0	0	0	0	2	1	1	121	398	0	90	2								-4.556416	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMN2	56776	broad.mit.edu	37	1	240370368	240370368	+	Silent	SNP	C	C	T	rs140392779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240370368C>T	ENST00000319653.9	+	5	2486	c.2256C>T	c.(2254-2256)ggC>ggT	p.G752G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	p.G895G(1)		178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		CGGAAGAGGGCGGGGTGCTGA	0.547000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000319653.9	1	1	hg19	CCDS31069.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	1	0	1	35	193	0	43	0	1.196344e-01	0	4	0	43	2		0	0	0	0	0	2	1	1	34	186	0	43	2								-4.461436	1	1	121412	55	46	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
GREM2	64388	broad.mit.edu	37	1	240656545	240656545	+	Silent	SNP	C	C	T	rs148064794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240656545C>T	ENST00000318160.4	-	2	497	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist			10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		TCTGCCGCAGCGGCTGCGTCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000318160.4	1	1	hg19	CCDS31070.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	1	0	1	100	372	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	98	366	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCEB3	6924	broad.mit.edu	37	1	24076437	24076437	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24076437C>T	ENST00000418390.2	+	3	587	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TCEB3_ENST00000609199.1_Splice_Site_p.R80*|TCEB3_ENST00000487554.1_3'UTR	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)			19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)			TCCTGTGGAACGGTAAGAACA	0.393000																								0							SO:0001630	splice_region_variant			ENST00000418390.2	0	1	hg19	CCDS239.2	.	.	.	.	.	.	.	.	.	.	C	38	6.847530	0.97881	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.92	3.89	0.44902	.	0.278788	0.27424	N	0.019427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6452	13.8483	0.63481	0.3956:0.6044:0.0:0.0	.	.	.	.	X	106	.	ENSP00000395574:R106X	R	+	1	2	TCEB3	23949024	0.767000	0.28508	1.000000	0.80357	0.995000	0.86356	0.433000	0.21477	1.480000	0.48289	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	0	0	0	15	117	0	33	1	9.953713e-01	3	70	0	33	2		0	0	0	0	0	2	1	9.998989e-01	15	116	0	32	2								-19.999310	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.880000	0.600000	1.000000	0.990000	0.865787	0.880000	1	7.500000e-01	9.700000e-01
RGS7	6000	broad.mit.edu	37	1	240969500	240969500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240969500A>C	ENST00000407727.1	-	14	1208	c.1209T>G	c.(1207-1209)agT>agG	p.S403R	RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000366564.1_Missense_Mutation_p.S403R|RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000366565.1_Missense_Mutation_p.S403R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R|RGS7_ENST00000348120.2_Missense_Mutation_p.S350R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7			76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)		TTTTGTCATAACTCTTGGAAT	0.478000																								0							SO:0001583	missense			ENST00000407727.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.2	4.119829	0.77323	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.95	2.34	0.29019	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.036320	0.85682	N	0.000000	T	0.10981	0.0268	M	0.87900	2.915	0.54753	D	0.999984	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.998;1.0;0.993;1.0	T	0.00389	-1.1770	10	0.87932	D	0	.	4.96	0.14061	0.5959:0.1587:0.2455:0.0	.	319;377;350;403;403;403;403	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	R	377;403;403;403;234;350;319;403;403;350	ENSP00000331485:S377R;ENSP00000355523:S403R;ENSP00000355522:S403R;ENSP00000355521:S403R;ENSP00000404399:S234R;ENSP00000341242:S350R;ENSP00000390138:S319R;ENSP00000355520:S403R;ENSP00000384428:S403R;ENSP00000385508:S350R	ENSP00000331485:S377R	S	-	3	2	RGS7	239036123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.096000	0.41738	0.524000	0.28502	0.528000	0.53228	AGT		TCGA-IB-7651-01A-11D-2154-08	RGS7-204	KNOWN	basic	protein_coding	protein_coding		1	0	1	125	386	0	89	0	2.547665e-01	0	4	0	89	2		0	0	0	0	0	2	1	1	124	381	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS7	6000	broad.mit.edu	37	1	241031913	241031913	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241031913C>A	ENST00000407727.1	-	8	582	c.583G>T	c.(583-585)Gcg>Tcg	p.A195S	RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000366564.1_Missense_Mutation_p.A195S|RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000366565.1_Missense_Mutation_p.A195S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S|RGS7_ENST00000348120.2_Missense_Mutation_p.A142S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7			76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)		TCCCAGAACGCTCTCTCTTGG	0.478000																								0							SO:0001583	missense			ENST00000407727.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.276787	0.95459	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.63255	0.39;0.26;0.32;0.31;-0.03;0.56;0.49;0.32;0.26;0.56	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.88775	2.98	0.80722	D	1	D;P;P;D;P;D;D	0.71674	0.968;0.919;0.951;0.998;0.951;0.996;0.969	P;P;P;D;P;D;P	0.70016	0.718;0.507;0.769;0.967;0.769;0.926;0.818	D	0.85729	0.1330	10	0.87932	D	0	-10.8088	18.6358	0.91378	0.0:1.0:0.0:0.0	.	111;169;142;195;195;195;195	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	S	169;195;195;195;26;142;111;195;195;142	ENSP00000331485:A169S;ENSP00000355523:A195S;ENSP00000355522:A195S;ENSP00000355521:A195S;ENSP00000404399:A26S;ENSP00000341242:A142S;ENSP00000390138:A111S;ENSP00000355520:A195S;ENSP00000384428:A195S;ENSP00000385508:A142S	ENSP00000331485:A169S	A	-	1	0	RGS7	239098536	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.734000	0.84928	2.653000	0.90120	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	RGS7-204	KNOWN	basic	protein_coding	protein_coding		1	0	1	71	396	0	77	0	6.404044e-02	0	3	0	77	2		0	0	0	0	0	2	1	1	67	391	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FH	2271	broad.mit.edu	37	1	241676958	241676958	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241676958T>C	ENST00000366560.3	-	3	361	c.323A>G	c.(322-324)cAg>cGg	p.Q108R	FH_ENST00000493477.1_5'Flank	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase			26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)		ACCATAATCCTGGTTTACTTC	0.373000			Mis, N, F			lieomyomatosis, renal			Hereditary Leiomyomatosis and Renal Cell Cancer				Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		E, M	0							SO:0001583	missense	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	ENST00000366560.3	1	1	hg19	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022955	0.54683	.	.	ENSG00000091483	ENST00000366560	D	0.99304	-5.72	5.85	5.85	0.93711	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.171783	0.52532	D	0.000071	D	0.95887	0.8661	N	0.05078	-0.115	0.51767	D	0.999934	B	0.02656	0.0	B	0.08055	0.003	D	0.94601	0.7796	10	0.16420	T	0.52	-25.9253	14.1942	0.65659	0.0:0.0:0.0:1.0	.	108	P07954	FUMH_HUMAN	R	108	ENSP00000355518:Q108R	ENSP00000355518:Q108R	Q	-	2	0	FH	239743581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.234000	0.73211	0.533000	0.62120	CAG		TCGA-IB-7651-01A-11D-2154-08	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	1	0	1	158	454	0	115	1	1	85	184	0	115	2		0	0	0	0	0	2	1	1	155	441	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KMO	8564	broad.mit.edu	37	1	241713053	241713053	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241713053A>C	ENST00000366559.4	+	3	512	c.201A>C	c.(199-201)aaA>aaC	p.K67N	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.K67N|KMO_ENST00000366557.4_Missense_Mutation_p.K67N	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)			33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)		AAGCCTTGAAAGCTGTTGGCC	0.418000																								0							SO:0001583	missense			ENST00000366559.4	1	0	hg19	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811367	0.32053	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.53857	0.6;0.6;0.6	5.37	1.66	0.24008	Monooxygenase, FAD-binding (1);	0.232106	0.49916	N	0.000129	T	0.43366	0.1244	L	0.54323	1.7	0.38500	D	0.948192	B;B;B	0.21225	0.042;0.053;0.034	B;B;B	0.30716	0.038;0.119;0.033	T	0.33828	-0.9853	10	0.52906	T	0.07	.	2.5525	0.04752	0.614:0.1547:0.0831:0.1483	.	67;67;67	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	N	67	ENSP00000355517:K67N;ENSP00000355516:K67N;ENSP00000355515:K67N	ENSP00000355515:K67N	K	+	3	2	KMO	239779676	0.999000	0.42202	0.999000	0.59377	0.459000	0.32528	0.638000	0.24674	0.080000	0.16959	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	1	0	0	122	375	0	101	0	9.028921e-01	0	15	0	101	2		0	0	0	0	0	2	1	1	119	370	0	100	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KMO	8564	broad.mit.edu	37	1	241729796	241729796	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241729796A>C	ENST00000366559.4	+	9	1004	c.693A>C	c.(691-693)aaA>aaC	p.K231N	KMO_ENST00000366558.3_Missense_Mutation_p.K231N|KMO_ENST00000366557.4_Missense_Mutation_p.K231N	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)			33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)		CACAGAACAAATCATTCACAT	0.438000																								0							SO:0001583	missense			ENST00000366559.4	1	1	hg19	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945479	0.34377	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51574	0.7;0.7;0.7	5.92	3.65	0.41850	Monooxygenase, FAD-binding (1);	0.084078	0.85682	D	0.000000	T	0.57007	0.2024	L	0.60067	1.865	0.58432	D	0.999996	D;D;P	0.60575	0.988;0.988;0.791	P;P;B	0.62491	0.903;0.903;0.319	T	0.55964	-0.8057	10	0.48119	T	0.1	.	8.0608	0.30631	0.8372:0.0:0.1628:0.0	.	231;231;231	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	N	231	ENSP00000355517:K231N;ENSP00000355516:K231N;ENSP00000355515:K231N	ENSP00000355515:K231N	K	+	3	2	KMO	239796419	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	3.617000	0.54181	1.083000	0.41159	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	1	0	1	120	364	0	104	0	7.507810e-01	1	9	0	104	2		0	0	0	0	0	2	1	1	119	359	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPN3	23596	broad.mit.edu	37	1	241757917	241757917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241757917G>T	ENST00000366554.2	-	4	1128	c.1022C>A	c.(1021-1023)gCt>gAt	p.A341D	OPN3_ENST00000331838.5_Missense_Mutation_p.A262D|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366559.4_3'UTR|KMO_ENST00000366557.4_3'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3			11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		TTCACTTCCAGCTGCTGGTAG	0.463000																								0							SO:0001583	missense			ENST00000366554.2	1	1	hg19	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228311	0.22542	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.69561	-0.41;-0.0	4.11	-2.95	0.05564	.	0.979536	0.08373	N	0.955721	T	0.44891	0.1315	N	0.24115	0.695	0.09310	N	1	B	0.24258	0.1	B	0.24006	0.05	T	0.30208	-0.9986	10	0.49607	T	0.09	.	1.9055	0.03276	0.3059:0.1376:0.4074:0.1491	.	341	Q9H1Y3	OPN3_HUMAN	D	341;262	ENSP00000355512:A341D;ENSP00000328018:A262D	ENSP00000328018:A262D	A	-	2	0	OPN3	239824540	0.004000	0.15560	0.000000	0.03702	0.713000	0.41058	0.437000	0.21543	-0.649000	0.05430	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	1	0	1	142	591	0	110	1	9.999993e-01	14	70	0	110	2		0	0	0	0	0	2	1	1	141	577	1	106	22								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHML	1122	broad.mit.edu	37	1	241797861	241797861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241797861C>T	ENST00000366553.1	-	1	1371	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)			26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		TACTTTATGACGAAGACAATA	0.373000																								0							SO:0001583	missense			ENST00000366553.1	1	1	hg19	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815051	0.32053	.	.	ENSG00000203668	ENST00000366553	T	0.59772	0.24	4.4	3.45	0.39498	.	0.286793	0.38492	U	0.001671	T	0.41949	0.1181	.	.	.	0.42068	D	0.991193	B	0.28178	0.202	B	0.22880	0.042	T	0.36407	-0.9749	9	0.41790	T	0.15	-4.2563	7.1729	0.25728	0.0:0.8721:0.0:0.1279	.	403	P26374	RAE2_HUMAN	H	403	ENSP00000355511:R403H	ENSP00000355511:R403H	R	-	2	0	CHML	239864484	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	1.321000	0.33678	1.377000	0.46286	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	1	0	1	62	323	0	65	1	9.496014e-01	5	23	0	65	2		0	0	0	0	0	2	1	1	62	323	0	65	2								-20.000000	1	1	121398	6	38	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHML	1122	broad.mit.edu	37	1	241798002	241798002	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798002C>A	ENST00000366553.1	-	1	1230	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)			26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		TGCGTTAAGACCATCTATTGT	0.398000																								0							SO:0001583	missense			ENST00000366553.1	1	1	hg19	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104997	0.56291	.	.	ENSG00000203668	ENST00000366553	D	0.86366	-2.11	4.96	3.99	0.46301	.	0.107759	0.64402	U	0.000006	D	0.92564	0.7638	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92555	0.6053	9	0.62326	D	0.03	-9.7362	13.364	0.60674	0.0:0.8401:0.1598:0.0	.	356	P26374	RAE2_HUMAN	V	356	ENSP00000355511:G356V	ENSP00000355511:G356V	G	-	2	0	CHML	239864625	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.935000	0.56560	2.752000	0.94435	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	1	0	1	141	374	0	90	1	9.947722e-01	7	17	0	90	2		0	0	0	0	0	2	1	1	141	371	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHML	1122	broad.mit.edu	37	1	241798700	241798700	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798700A>C	ENST00000366553.1	-	1	532	c.369T>G	c.(367-369)ccT>ccG	p.P123P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)			26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		CCCCCAAAGAAGGATTTTTCT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000366553.1	1	1	hg19	CCDS31073.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	0	0	0	34	1370	0	254	0	6.662883e-02	1	16	0	254	2		0	0	0	0	0	2	1	1	34	1348	0	253	2								-3.371032	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.300000	0.210000	0.420000	0.300000	0.317016	0.300000	0	2.500000e-01	3.700000e-01
WDR64	128025	broad.mit.edu	37	1	241959584	241959584	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959584T>G	ENST00000366552.2	+	26	3281	c.3074T>G	c.(3073-3075)tTt>tGt	p.F1025C	WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64			44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		AGTCTAAGATTTCTTCCACTG	0.408000																								0							SO:0001583	missense			ENST00000366552.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.17|11.17	1.560402|1.560402	0.27827|0.27827	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|T	0.46819|0.34472	1.1;0.86;0.87|1.36	5.22|5.22	2.69|2.69	0.31865|0.31865	.|.	0.684160|0.684160	0.13676|0.13676	N|N	0.370531|0.370531	T|T	0.39963|0.39963	0.1098|0.1098	L|L	0.57536|0.57536	1.79|1.79	0.21325|0.21325	N|N	0.99972|0.99972	D;P|.	0.76494|.	0.999;0.947|.	P;P|.	0.59703|.	0.862;0.541|.	T|T	0.24693|0.24693	-1.0153|-1.0153	10|8	0.59425|0.48119	D|T	0.04|0.1	-7.4809|-7.4809	7.511|7.511	0.27573|0.27573	0.3467:0.0:0.0:0.6533|0.3467:0.0:0.0:0.6533	.|.	1025;578|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	C|V	1025;858;629|504	ENSP00000355510:F1025C;ENSP00000402446:F858C;ENSP00000406656:F629C|ENSP00000406342:F504V	ENSP00000355510:F1025C|ENSP00000406342:F504V	F|F	+|+	2|1	0|0	WDR64|WDR64	240026207|240026207	0.996000|0.996000	0.38824|0.38824	0.599000|0.599000	0.28851|0.28851	0.041000|0.041000	0.13682|0.13682	0.723000|0.723000	0.25939|0.25939	0.897000|0.897000	0.36392|0.36392	-0.490000|-0.490000	0.04691|0.04691	TTT|TTC		TCGA-IB-7651-01A-11D-2154-08	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	92	227	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	89	225	0	53	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR64	128025	broad.mit.edu	37	1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959665G>A	ENST00000366552.2	+	26	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64			44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		CATGTTCAACGTGAAAAAGTA	0.378000																								0							SO:0001583	missense			ENST00000366552.2	1	1	hg19		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.006|0.006	-2.099010|-2.099010	0.00360|0.00360	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.38240|.	1.37;1.15;1.15|.	4.1|4.1	0.168|0.168	0.15012|0.15012	.|.	0.511841|.	0.17962|.	N|.	0.156140|.	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.01267|0.01267	-0.92|-0.92	0.20764|0.20764	N|N	0.999859|0.999859	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.06099|.	T|.	0.92|.	-0.5393|-0.5393	1.1911|1.1911	0.01865|0.01865	0.5203:0.1903:0.1059:0.1835|0.5203:0.1903:0.1059:0.1835	.|.	1052;605|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	1052;885;656|531	ENSP00000355510:R1052H;ENSP00000402446:R885H;ENSP00000406656:R656H|.	ENSP00000355510:R1052H|.	R|V	+|+	2|1	0|0	WDR64|WDR64	240026288|240026288	0.998000|0.998000	0.40836|0.40836	0.928000|0.928000	0.36995|0.36995	0.041000|0.041000	0.13682|0.13682	2.370000|2.370000	0.44240|0.44240	-0.069000|-0.069000	0.12931|0.12931	-0.339000|-0.339000	0.08088|0.08088	CGT|GTG		TCGA-IB-7651-01A-11D-2154-08	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	48	213	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	48	211	0	50	2								-20.000000	1	0	121408	1	34	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXO1	9156	broad.mit.edu	37	1	242024727	242024727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242024727G>A	ENST00000366548.3	+	10	1557	c.964G>A	c.(964-966)Gct>Act	p.A322T	EXO1_ENST00000518483.1_Missense_Mutation_p.A322T|EXO1_ENST00000348581.5_Missense_Mutation_p.A322T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1			45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		TGATTCCATAGCTCTTCAAAT	0.308000								Editing and processing nucleases																0							SO:0001583	missense			ENST00000366548.3	1	1	hg19	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051702	0.93793	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.36520	1.25;1.25;1.25	4.95	4.95	0.65309	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.247249	0.39083	N	0.001461	T	0.64692	0.2621	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.966;0.989;0.952	T	0.70655	-0.4812	10	0.72032	D	0.01	-4.9476	18.1442	0.89649	0.0:0.0:1.0:0.0	.	322;322;322	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	322	ENSP00000355506:A322T;ENSP00000311873:A322T;ENSP00000430251:A322T	ENSP00000311873:A322T	A	+	1	0	EXO1	240091350	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.099000	0.94207	2.463000	0.83235	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	1	0	1	25	148	0	55	1	2.802329e-01	3	4	0	55	2		0	0	0	0	0	2	1	9.999999e-01	25	143	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999907	0.990000	1	9.900000e-01	1
EXO1	9156	broad.mit.edu	37	1	242030154	242030154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242030154G>A	ENST00000366548.3	+	11	1657	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	EXO1_ENST00000518483.1_Missense_Mutation_p.S355N|EXO1_ENST00000348581.5_Missense_Mutation_p.S355N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1			45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		AGAAGTCATAGTTGGGATGAC	0.368000								Editing and processing nucleases																0							SO:0001583	missense			ENST00000366548.3	1	1	hg19	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	8.346	0.829897	0.16749	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.38401	1.2;1.2;1.14	5.75	4.83	0.62350	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.372294	0.35525	N	0.003144	T	0.38852	0.1056	M	0.73598	2.24	0.40987	D	0.984825	B;B;B	0.16166	0.009;0.016;0.009	B;B;B	0.16722	0.007;0.016;0.006	T	0.25710	-1.0124	10	0.24483	T	0.36	0.0	12.9676	0.58494	0.0761:0.0:0.9239:0.0	.	355;355;355	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	355	ENSP00000355506:S355N;ENSP00000311873:S355N;ENSP00000430251:S355N	ENSP00000311873:S355N	S	+	2	0	EXO1	240096777	1.000000	0.71417	0.979000	0.43373	0.370000	0.29829	3.600000	0.54052	1.429000	0.47314	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	1	0	1	113	339	0	101	1	8.017928e-01	6	5	0	101	2		0	0	0	0	0	2	1	1	111	336	0	98	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXO1	9156	broad.mit.edu	37	1	242052841	242052841	+	Missense_Mutation	SNP	C	C	T	rs145975455	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242052841C>T	ENST00000366548.3	+	16	3073	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.A827V	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1			45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		ACTCCAGAAGCGGAAGAGGAT	0.403000								Editing and processing nucleases																0							SO:0001583	missense			ENST00000366548.3	0	1	hg19	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801986	0.50315	0.001362	5.81E-4	ENSG00000174371	ENST00000366548;ENST00000348581	T;T	0.60424	0.19;0.19	5.32	4.4	0.53042	.	0.631895	0.15778	N	0.245083	T	0.47985	0.1475	L	0.47716	1.5	0.09310	N	1	B;B	0.31837	0.342;0.342	B;B	0.22753	0.041;0.028	T	0.41197	-0.9522	10	0.49607	T	0.09	-9.9203	11.4966	0.50413	0.0:0.9136:0.0:0.0864	.	826;827	A8K5H6;Q9UQ84	.;EXO1_HUMAN	V	827	ENSP00000355506:A827V;ENSP00000311873:A827V	ENSP00000311873:A827V	A	+	2	0	EXO1	240119464	0.976000	0.34144	0.064000	0.19789	0.957000	0.61999	2.821000	0.48065	1.204000	0.43247	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	0	0	0	15	602	0	116	0	9.581481e-02	1	19	0	116	2		0	0	0	0	0	2	1	9.998503e-01	15	589	0	115	2								-2.734313	1	1	121412	48	50	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.310000	0.180000	0.490000	0.300000	0.328203	0.310000	0	2.400000e-01	4.100000e-01
MAP1LC3C	440738	broad.mit.edu	37	1	242159659	242159659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242159659C>T	ENST00000357246.3	-	4	314	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma			13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)		AAGTAAAAGGCTTCCGTGGCT	0.567000																								0							SO:0001583	missense			ENST00000357246.3	1	1	hg19	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928828	0.73327	.	.	ENSG00000197769	ENST00000357246	T	0.59502	0.26	4.18	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.80982	2.52	0.53688	D	0.999971	B	0.30727	0.292	P	0.51516	0.672	T	0.77000	-0.2750	10	0.87932	D	0	.	13.1202	0.59321	0.1611:0.8389:0.0:0.0	.	84	Q9BXW4	MLP3C_HUMAN	T	84	ENSP00000349785:A84T	ENSP00000349785:A84T	A	-	1	0	MAP1LC3C	240226282	1.000000	0.71417	0.948000	0.38648	0.443000	0.32047	5.100000	0.64560	0.956000	0.37904	0.643000	0.83706	GCC		TCGA-IB-7651-01A-11D-2154-08	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	1	0	1	95	342	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	94	334	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLD5	200150	broad.mit.edu	37	1	242253373	242253373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242253373G>T	ENST00000536534.2	-	10	1635	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	PLD5_ENST00000427495.1_Missense_Mutation_p.A403D|PLD5_ENST00000442594.2_Missense_Mutation_p.A373D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5			55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)		GCCCGTGCCAGCATTCTGAGT	0.408000																								0							SO:0001583	missense			ENST00000536534.2	1	1	hg19	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481388	0.44147	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.976;0.982	T	0.61950	-0.6957	10	0.87932	D	0	-19.3676	17.7645	0.88473	0.0:0.0:1.0:0.0	.	373;465;403	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	D	403;373;465	ENSP00000401285:A403D;ENSP00000414188:A373D;ENSP00000440896:A465D	ENSP00000401285:A403D	A	-	2	0	PLD5	240319996	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	8.145000	0.89625	2.723000	0.93209	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	1	0	1	150	555	0	111	0	4.585301e-02	0	2	0	111	2		0	0	0	0	0	2	1	1	148	543	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLD5	200150	broad.mit.edu	37	1	242428680	242428680	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242428680A>G	ENST00000536534.2	-	4	807	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000427495.1_Missense_Mutation_p.V127A|PLD5_ENST00000442594.2_Missense_Mutation_p.V97A			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5			55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)		ATCAGCTGTTACATCACTCAC	0.368000																								0							SO:0001583	missense			ENST00000536534.2	1	1	hg19	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960991	0.34565	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.43294	2.64;2.64;2.64;0.95	5.55	4.41	0.53225	.	0.270757	0.30762	N	0.008930	T	0.21022	0.0506	N	0.13003	0.285	0.28108	N	0.931111	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.003	T	0.16100	-1.0414	10	0.06494	T	0.89	-19.09	9.713	0.40256	0.9161:0.0:0.0839:0.0	.	97;189;127	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	A	127;97;189;127	ENSP00000401285:V127A;ENSP00000414188:V97A;ENSP00000440896:V189A;ENSP00000438191:V127A	ENSP00000401285:V127A	V	-	2	0	PLD5	240495303	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.031000	0.49728	2.234000	0.73211	0.533000	0.62120	GTA		TCGA-IB-7651-01A-11D-2154-08	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	1	0	1	29	186	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	28	183	0	68	2								-14.441670	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999877	0.990000	1	9.900000e-01	1
CEP170	9859	broad.mit.edu	37	1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa			62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		ATCTGTGGAACGACTTTTTGT	0.408000																								0							SO:0001583	missense			ENST00000366542.1	1	1	hg19	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238361|3.238361	0.58886|0.58886	0.0|0.0	1.22E-4|1.22E-4	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000336415	T;T;T|.	0.48201|.	0.84;0.83;0.82|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.061588|.	0.64402|.	D|.	0.000002|.	T|T	0.66346|0.66346	0.2780|0.2780	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.993;0.993;0.994|.	T|T	0.63834|0.63834	-0.6547|-0.6547	10|5	0.42905|.	T|.	0.14|.	-6.9291|-6.9291	17.0433|17.0433	0.86495|0.86495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	958;897;897;995|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	H|I	995;897;897|959	ENSP00000355500:R995H;ENSP00000355502:R897H;ENSP00000355501:R897H|.	ENSP00000355500:R995H|.	R|V	-|-	2|1	0|0	CEP170|CEP170	241394901|241394901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.998000|0.998000	0.95712|0.95712	5.281000|5.281000	0.65609|0.65609	2.248000|2.248000	0.74166|0.74166	0.555000|0.555000	0.69702|0.69702	CGT|GTT		TCGA-IB-7651-01A-11D-2154-08	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	1	0	0	28	388	0	62	0	7.840236e-01	0	42	0	62	2		0	0	0	0	0	2	1	1	27	361	0	78	2								-7.697508	1	1	120812	3	36	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.860000	0.580000	1.000000	1.000000	0.856901	0.860000	1	7.100000e-01	1
SDCCAG8	10806	broad.mit.edu	37	1	243434319	243434319	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243434319A>C	ENST00000366541.3	+	3	378	c.260A>C	c.(259-261)aAg>aCg	p.K87T	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8			29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)		CAAGCAGATAAGGAAAGTGAA	0.383000																								0							SO:0001583	missense			ENST00000366541.3	1	1	hg19	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199679	0.58126	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	T;T	0.48522	0.81;0.84	5.52	3.16	0.36331	.	0.346316	0.33161	N	0.005209	T	0.38054	0.1026	L	0.60455	1.87	0.58432	D	0.999999	B	0.20052	0.041	B	0.19946	0.027	T	0.11108	-1.0601	10	0.15499	T	0.54	-7.9406	6.9153	0.24357	0.7718:0.1498:0.0785:0.0	.	87	Q86SQ7	SDCG8_HUMAN	T	87	ENSP00000348137:K87T;ENSP00000355499:K87T	ENSP00000348137:K87T	K	+	2	0	SDCCAG8	241500942	0.805000	0.28982	0.437000	0.26809	0.822000	0.46500	1.372000	0.34261	0.443000	0.26582	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	1	0	1	84	269	0	71	1	1	33	94	0	71	2		0	0	0	0	0	2	1	1	83	266	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDCCAG8	10806	broad.mit.edu	37	1	243468021	243468021	+	Silent	SNP	C	C	T	rs139220760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243468021C>T	ENST00000366541.3	+	7	800	c.682C>T	c.(682-684)Cta>Tta	p.L228L	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000355875.4_Silent_p.L185L|SDCCAG8_ENST00000391846.1_Silent_p.L228L|SDCCAG8_ENST00000343783.6_Silent_p.L83L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8			29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)		ATAGGAGAAGCTAAAACTTAC	0.259000																								0							SO:0001819	synonymous_variant			ENST00000366541.3	1	1	hg19	CCDS31075.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	1	0	0	37	172	0	32	1	9.999999e-01	34	91	0	32	2		0	0	0	0	0	2	1	1	36	171	0	32	2								-19.983920	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDCCAG8	10806	broad.mit.edu	37	1	243480090	243480090	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243480090C>T	ENST00000366541.3	+	9	1081	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SDCCAG8_ENST00000355875.4_Silent_p.S278S|SDCCAG8_ENST00000391846.1_Silent_p.S321S|SDCCAG8_ENST00000343783.6_Silent_p.S176S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8			29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)		CACTAGTTTCCGTAAGGAGCA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000366541.3	1	1	hg19	CCDS31075.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	1	0	1	52	274	0	55	1	9.997360e-01	13	54	0	55	2		0	0	0	0	0	2	1	1	50	271	0	55	2								-2.459017	0	1	121412	7	39	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYOM3	127294	broad.mit.edu	37	1	24383922	24383922	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24383922C>T	ENST00000374434.3	-	37	4408	c.4246G>A	c.(4246-4248)Gag>Aag	p.E1416K	MYOM3_ENST00000330966.7_Missense_Mutation_p.E1419K|MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3			68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)			TGGCCCGTCTCGGAGCCATAC	0.567000																								0							SO:0001583	missense			ENST00000374434.3	1	1	hg19	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247414	0.95305	0.0	1.19E-4	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.66995	-0.24;-0.24;-0.24	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059545	0.64402	D	0.000003	T	0.73418	0.3584	L	0.41027	1.25	0.80722	D	1	D;P	0.89917	1.0;0.944	D;B	0.66716	0.946;0.216	T	0.66897	-0.5807	10	0.13470	T	0.59	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	1416;309	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	309;1416;1419;310	ENSP00000342689:E309K;ENSP00000363557:E1416K;ENSP00000332670:E1419K	ENSP00000332670:E1419K	E	-	1	0	MYOM3	24256509	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	4.683000	0.61679	2.436000	0.82500	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	1	0	1	59	167	0	51	1	6.605558e-01	4	4	0	51	2		0	0	0	0	0	2	1	1	58	164	0	51	2								-4.821327	1	1	120988	7	41	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981386	0.980000	1	9.500000e-01	1
AKT3	10000	broad.mit.edu	37	1	244006483	244006483	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244006483C>A	ENST00000366539.1	-	0	190				AKT3_ENST00000366540.1_De_novo_Start_InFrame|AKT3_ENST00000336199.5_De_novo_Start_InFrame|AKT3_ENST00000263826.5_De_novo_Start_InFrame			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3			26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		GATGACTCCCCTCTGAGCCCC	0.478000																								0											ENST00000366539.1	0	1	hg19	CCDS31077.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	0	0	0	62	407	0	72	0	9.955781e-01	0	56	0	72	2		0	0	0	0	0	2	1	1	61	404	0	72	2								-2.966642	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MYOM3	127294	broad.mit.edu	37	1	24406591	24406591	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24406591G>A	ENST00000374434.3	-	20	2663	c.2501C>T	c.(2500-2502)aCa>aTa	p.T834I	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.T835I|MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I|MYOM3_ENST00000475306.1_5'Flank|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3			68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)			GTGATAGCCTGTGACAGGCCC	0.627000																								0							SO:0001583	missense			ENST00000374434.3	1	1	hg19	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587235	0.28268	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.59638	0.25;0.25;0.25	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.63208	1.945	0.41796	D	0.989896	B;B	0.19817	0.026;0.039	B;B	0.28709	0.093;0.045	T	0.53556	-0.8422	10	0.33141	T	0.24	.	13.684	0.62504	0.0735:0.0:0.9265:0.0	.	834;834	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	I	834;835;834	ENSP00000363557:T834I;ENSP00000332670:T835I;ENSP00000328415:T834I	ENSP00000328415:T834I	T	-	2	0	MYOM3	24279178	1.000000	0.71417	0.965000	0.40720	0.012000	0.07955	4.261000	0.58841	2.600000	0.87896	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	1	0	1	38	337	0	95	1	3.047226e-02	3	0	0	95	2		0	0	0	0	0	2	1	1	38	330	0	92	2								-3.221884	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.907377	0.910000	1	8.200000e-01	9.800000e-01
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24419480C>T	ENST00000374434.3	-	10	1209	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	MYOM3_ENST00000330966.7_Silent_p.S350S|MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3			68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)			GTCCGAAGGGCGAGGGCACCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000374434.3	0	1	hg19	CCDS41281.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	1	0	1	15	103	0	14	1	1.381794e-01	3	2	0	14	2		0	0	0	0	0	2	1	9.999028e-01	15	102	0	14	2								-19.999930	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.900000	0.630000	1.000000	0.990000	0.881557	0.900000	1	7.700000e-01	9.800000e-01
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	rs147946123	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase			12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		TTTGATTTCCGTAAACATGTC	0.338000																								0							SO:0001583	missense			ENST00000366535.3	1	1	hg19	CCDS1624.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.7	4.032702	0.75504	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.43688	0.94	5.32	5.32	0.75619	.	0.152816	0.64402	D	0.000019	T	0.36110	0.0955	N	0.19112	0.55	0.38964	D	0.958613	P	0.44776	0.843	B	0.42851	0.4	T	0.41413	-0.9510	10	0.72032	D	0.01	-13.6572	18.999	0.92826	0.0:0.0:1.0:0.0	.	370	P30520	PURA2_HUMAN	M	370;349	ENSP00000355493:T370M	ENSP00000355493:T370M	T	-	2	0	ADSS	242645965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.281000	0.51685	2.470000	0.83445	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	1	0	1	67	174	0	46	1	1	72	276	0	46	2		0	0	0	0	0	2	1	1	67	172	0	46	2								-5.774373	1	1	121408	4	37	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1orf101	257044	broad.mit.edu	37	1	244724424	244724424	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244724424G>A	ENST00000366534.4	+	10	1538	c.1484G>A	c.(1483-1485)aGc>aAc	p.S495N	C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101			36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		TCAAATGACAGCATTATTCAT	0.328000																								0							SO:0001583	missense			ENST00000366534.4	1	1	hg19	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478964	0.63849	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.95	4.02	0.46733	.	0.284401	0.30732	N	0.008986	T	0.37265	0.0997	L	0.59436	1.845	0.21652	N	0.999608	D;D;D;D	0.76494	0.999;0.996;0.999;0.965	D;D;D;P	0.74023	0.982;0.923;0.951;0.832	T	0.06006	-1.0851	10	0.59425	D	0.04	.	8.5598	0.33503	0.1052:0.0:0.8948:0.0	.	415;495;495;344	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	495;495;495;415;344	ENSP00000355492:S495N;ENSP00000355491:S495N;ENSP00000395796:S415N;ENSP00000355489:S344N	ENSP00000355489:S344N	S	+	2	0	C1orf101	242791047	0.970000	0.33590	0.629000	0.29254	0.201000	0.24016	3.323000	0.52014	2.439000	0.82584	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	1	0	1	115	345	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1	113	340	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPU	3192	broad.mit.edu	37	1	245027598	245027598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245027598C>T	ENST00000283179.9	-	1	175	c.12G>A	c.(10-12)tcG>tcA	p.S4S	RP11-11N7.4_ENST00000610145.1_lincRNA|HNRNPU_ENST00000444376.2_Silent_p.S4S			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)			20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)		CATTAACAGGCGAGGAACTCA	0.602000													NSCLC(33;911 1010 3329 23631 49995)											0							SO:0001819	synonymous_variant			ENST00000283179.9	1	1	hg19	CCDS41479.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	1	0	1	41	164	0	27	1	1	80	159	0	27	2		0	0	0	0	0	2	1	1	41	163	0	26	2								-20.000000	1	1	121322	1	24	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PANK4	55229	broad.mit.edu	37	1	2452547	2452547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2452547G>A	ENST00000378466.3	-	3	427	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4			23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)			CACTTCAGCCGCAGCTTCTCT	0.597000																								0							SO:0001583	missense			ENST00000378466.3	1	1	hg19	CCDS42.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225634	0.58668	.	.	ENSG00000157881	ENST00000378466	D	0.99527	-6.09	5.05	3.15	0.36227	.	1.063610	0.07258	N	0.866933	D	0.98273	0.9428	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.49301	0.606	D	0.93676	0.6994	10	0.87932	D	0	-7.9242	10.0179	0.42024	0.0:0.4167:0.4491:0.1343	.	139	Q9NVE7	PANK4_HUMAN	W	139	ENSP00000367727:R139W	ENSP00000367727:R139W	R	-	1	2	PANK4	2442407	0.112000	0.22096	0.637000	0.29366	0.859000	0.49053	2.617000	0.46385	0.510000	0.28216	-0.261000	0.10672	CGG		TCGA-IB-7651-01A-11D-2154-08	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1	1	0	1	47	405	0	87	1	9.993696e-01	16	80	0	87	2		0	0	0	0	0	2	1	1	47	400	0	86	2								-3.318794	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.930000	0.760000	1.000000	0.990000	0.923912	0.930000	1	8.500000e-01	9.900000e-01
KIF26B	55083	broad.mit.edu	37	1	245530451	245530451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530451G>A	ENST00000407071.2	+	3	1221	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		CACAGGCTTCGCCAACAAGCA	0.662000																								0							SO:0001583	missense			ENST00000407071.2	0	1	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647193	0.29246	.	.	ENSG00000162849	ENST00000407071	T	0.77229	-1.08	5.57	2.53	0.30540	.	0.464285	0.18794	N	0.131000	T	0.63651	0.2529	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.25105	0.118;0.103	B;B	0.14578	0.011;0.01	T	0.54009	-0.8357	10	0.37606	T	0.19	.	9.0255	0.36227	0.1336:0.2209:0.6455:0.0	.	261;261	B4DF75;Q2KJY2	.;KI26B_HUMAN	T	261	ENSP00000385545:A261T	ENSP00000385545:A261T	A	+	1	0	KIF26B	243597074	0.000000	0.05858	0.722000	0.30670	0.790000	0.44656	-0.060000	0.11712	1.353000	0.45828	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1	6	64	0	11	1	8.299979e-01	4	33	0	11	2		0	0	0	0	0	2	1	9.672288e-01	6	64	0	11	2								-11.166560	1	0	120840	7	32	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.490000	1.000000	1.000000	0.916999	0.990000	1	7.600000e-01	1
KIF26B	55083	broad.mit.edu	37	1	245530471	245530471	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530471A>C	ENST00000407071.2	+	3	1241	c.801A>C	c.(799-801)aaA>aaC	p.K267N	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		ACGGCAGCAAACCCAGCAGCC	0.642000																								0							SO:0001583	missense			ENST00000407071.2	0	1	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038421	0.55003	.	.	ENSG00000162849	ENST00000407071	T	0.80214	-1.35	5.75	0.452	0.16634	.	0.751547	0.12006	N	0.508288	D	0.82467	0.5043	M	0.62723	1.935	0.80722	D	1	P;D	0.60575	0.932;0.988	B;P	0.52957	0.445;0.714	T	0.80710	-0.1261	10	0.87932	D	0	.	10.5632	0.45156	0.7217:0.0:0.2783:0.0	.	267;267	B4DF75;Q2KJY2	.;KI26B_HUMAN	N	267	ENSP00000385545:K267N	ENSP00000385545:K267N	K	+	3	2	KIF26B	243597094	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.715000	0.25822	0.133000	0.18654	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1	15	52	0	11	1	9.982846e-01	15	27	0	11	2		0	0	0	0	0	2	1	9.999281e-01	15	51	0	11	2								-13.162710	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
KIF26B	55083	broad.mit.edu	37	1	245849462	245849462	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849462G>T	ENST00000407071.2	+	12	3617	c.3177G>T	c.(3175-3177)aaG>aaT	p.K1059N	KIF26B_ENST00000366518.4_Missense_Mutation_p.K678N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		TGGAAGGCAAGCCCAGGCCCA	0.662000																								0							SO:0001583	missense			ENST00000407071.2	1	1	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860041	0.51482	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80033	-1.33;-1.32	5.77	4.86	0.63082	.	.	.	.	.	D	0.86197	0.5875	M	0.75447	2.3	0.50632	D	0.999884	D;D	0.89917	0.999;1.0	D;D	0.69307	0.922;0.963	D	0.83558	0.0105	9	0.30078	T	0.28	.	8.3751	0.32438	0.2115:0.0:0.7885:0.0	.	678;1059	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1059;678;675	ENSP00000385545:K1059N;ENSP00000355475:K678N	ENSP00000355475:K678N	K	+	3	2	KIF26B	243916085	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.502000	0.53332	2.744000	0.94065	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	0	36	211	0	37	1	9.530522e-01	7	25	0	37	2		0	0	0	0	0	2	1	1	31	182	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
KIF26B	55083	broad.mit.edu	37	1	245849753	245849753	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849753G>A	ENST00000407071.2	+	12	3908	c.3468G>A	c.(3466-3468)caG>caA	p.Q1156Q	KIF26B_ENST00000366518.4_Silent_p.Q775Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		ATGATGAGCAGCAGGCAGCTA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000407071.2	1	1	hg19	CCDS44342.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1	105	468	0	90	1	9.916254e-01	6	29	0	90	2		0	0	0	0	0	2	1	1	104	462	0	90	2								-3.397645	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF26B	55083	broad.mit.edu	37	1	245850027	245850027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850027G>A	ENST00000407071.2	+	12	4182	c.3742G>A	c.(3742-3744)Gtc>Atc	p.V1248I	KIF26B_ENST00000366518.4_Missense_Mutation_p.V867I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		CACGGCCCCCGTCTCCGAGGT	0.652000																								0							SO:0001583	missense			ENST00000407071.2	1	1	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950125	0.34377	0.0	1.18E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.77	5.77	0.91146	.	.	.	.	.	T	0.69878	0.3160	L	0.40543	1.245	0.38325	D	0.943622	B;B	0.33379	0.41;0.123	B;B	0.17098	0.017;0.013	T	0.70219	-0.4932	9	0.37606	T	0.19	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	867;1248	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1248;867;864	ENSP00000385545:V1248I;ENSP00000355475:V867I	ENSP00000355475:V867I	V	+	1	0	KIF26B	243916650	1.000000	0.71417	0.777000	0.31699	0.274000	0.26718	5.310000	0.65780	2.744000	0.94065	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1	31	106	0	25	1	9.929552e-01	11	19	0	25	2		0	0	0	0	0	2	1	1	31	105	0	25	2								-20.000000	1	1	121162	5	34	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF26B	55083	broad.mit.edu	37	1	245850356	245850356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850356C>T	ENST00000407071.2	+	12	4511	c.4071C>T	c.(4069-4071)atC>atT	p.I1357I	KIF26B_ENST00000366518.4_Silent_p.I976I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		CAGCCCCCATCAAAGGCTGCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000407071.2	1	1	hg19	CCDS44342.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1	30	111	0	32	1	9.988936e-01	13	30	0	32	2		0	0	0	0	0	2	1	1	30	109	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF26B	55083	broad.mit.edu	37	1	245850742	245850742	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850742C>A	ENST00000407071.2	+	12	4897	c.4457C>A	c.(4456-4458)cCg>cAg	p.P1486Q	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1105Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		AAGCCCAGTCCGGGAGACAGG	0.627000																								0							SO:0001583	missense			ENST00000407071.2	1	1	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	5.181	0.218975	0.09810	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76316	-1.01;-1.0	5.42	5.42	0.78866	.	.	.	.	.	T	0.64091	0.2567	N	0.22421	0.69	0.09310	N	1	B;B	0.30193	0.272;0.128	B;B	0.24269	0.052;0.052	T	0.50725	-0.8794	9	0.19590	T	0.45	.	13.8387	0.63426	0.0:0.9263:0.0:0.0737	.	1105;1486	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Q	1486;1105;1102	ENSP00000385545:P1486Q;ENSP00000355475:P1105Q	ENSP00000355475:P1105Q	P	+	2	0	KIF26B	243917365	0.000000	0.05858	0.006000	0.13384	0.339000	0.28857	0.880000	0.28159	2.700000	0.92200	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1	13	45	0	12	1	9.999478e-01	21	51	0	12	2		0	0	0	0	0	2	1	9.996299e-01	13	42	0	12	2								-11.892550	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999968	0.990000	1	9.900000e-01	1
KIF26B	55083	broad.mit.edu	37	1	245851582	245851582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245851582C>T	ENST00000407071.2	+	12	5737	c.5297C>T	c.(5296-5298)gCg>gTg	p.A1766V	KIF26B_ENST00000366518.4_Missense_Mutation_p.A1385V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		CTGCCGCAGGCGGTGGGCCAG	0.706000																								0							SO:0001583	missense			ENST00000407071.2	1	1	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938823	0.34189	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77358	-1.09;-1.09	5.44	5.44	0.79542	.	.	.	.	.	T	0.63367	0.2505	L	0.27053	0.805	0.33178	D	0.549156	P;P	0.36483	0.555;0.555	B;B	0.21151	0.033;0.023	T	0.67711	-0.5600	9	0.15952	T	0.53	.	19.256	0.93945	0.0:1.0:0.0:0.0	.	1385;1766	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	1766;1385;1382	ENSP00000385545:A1766V;ENSP00000355475:A1385V	ENSP00000355475:A1385V	A	+	2	0	KIF26B	243918205	0.999000	0.42202	0.884000	0.34674	0.396000	0.30629	5.894000	0.69806	2.561000	0.86390	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	0	37	136	0	24	1	7.986996e-01	2	11	0	24	2		0	0	0	0	0	2	1	1	37	130	0	22	2								-20.000000	1	1	115976	7	35	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRHL3	57822	broad.mit.edu	37	1	24663190	24663190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24663190G>A	ENST00000350501.5	+	4	612	c.485G>A	c.(484-486)aGc>aAc	p.S162N	GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000361548.4_Missense_Mutation_p.S162N|GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N|GRHL3_ENST00000530984.1_3'UTR	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)			20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)			TCTGTGGACAGCTACCTGTTA	0.597000																								0							SO:0001583	missense			ENST00000350501.5	1	1	hg19	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594031	0.46214	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12984	2.89;2.63;2.87;2.88;2.88	6.02	6.02	0.97574	.	0.562092	0.19630	N	0.109684	T	0.14485	0.0350	L	0.56769	1.78	0.28519	N	0.913146	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.16722	0.007;0.016;0.016	T	0.09271	-1.0682	10	0.24483	T	0.36	-22.351	9.0793	0.36542	0.0774:0.1595:0.7631:0.0	.	116;167;162	A2A297;Q8TE85-2;G3XAF0	.;.;.	N	162;69;162;116;167	ENSP00000354943:S162N;ENSP00000340543:S69N;ENSP00000288955:S162N;ENSP00000348333:S116N;ENSP00000236255:S167N	ENSP00000236255:S167N	S	+	2	0	GRHL3	24535777	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.489000	0.35562	2.865000	0.98341	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	1	0	0	69	612	0	151	0	2.959563e-02	0	3	0	151	2		0	0	0	0	0	2	1	1	69	610	0	150	2								-19.947100	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.940000	0.790000	1.000000	0.990000	0.936420	0.940000	1	8.700000e-01	9.900000e-01
TFB2M	64216	broad.mit.edu	37	1	246707824	246707824	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246707824G>A	ENST00000366514.4	-	7	1203	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial			28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)		TTTACTCACCGTAAGTGGTCT	0.333000																								0							SO:0001630	splice_region_variant			ENST00000366514.4	1	0	hg19	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878893	0.33162	.	.	ENSG00000162851	ENST00000366514	T	0.32753	1.44	5.12	-1.46	0.08800	.	0.696260	0.12484	N	0.464829	T	0.37945	0.1022	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.26883	-1.0090	10	0.72032	D	0.01	0.5149	8.2217	0.31545	0.0852:0.0:0.2499:0.6649	.	340	Q9H5Q4	TFB2M_HUMAN	C	340	ENSP00000355471:R340C	ENSP00000355471:R340C	R	-	1	0	TFB2M	244774447	0.641000	0.27251	0.013000	0.15412	0.052000	0.14988	0.524000	0.22940	-0.013000	0.14199	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	1	0	1	58	350	0	70	1	9.999713e-01	25	69	0	70	2		0	0	0	0	0	2	1	1	58	345	0	70	2								-3.319408	1	1	121408	5	39	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCCPDH	51097	broad.mit.edu	37	1	246922335	246922335	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246922335G>T	ENST00000366510.3	+	7	1071		c.e7-1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)			17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)		CTGTCTTGCAGGTGGCCAATT	0.413000																								0							SO:0001630	splice_region_variant			ENST00000366510.3	1	1	hg19	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543957	0.86022	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2117	0.98287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCCPDH	244988958	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.007000	0.88571	2.878000	0.98634	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	0	0	0	38	988	0	141	0	0	0	1	0	141	2		0	0	0	0	0	2	1	1	38	952	0	140	2								-3.366408	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.470000	0.330000	0.630000	0.480000	0.482729	0.470000	0	4.000000e-01	5.600000e-01
AHCTF1	25909	broad.mit.edu	37	1	247013133	247013133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013133G>A	ENST00000391829.2	-	33	6298	c.6175C>T	c.(6175-6177)Cgt>Tgt	p.R2059C	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2094C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1			74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		TGCAATGAACGTTTTTGGCTT	0.383000													Colon(145;197 1800 4745 15099 26333)											0							SO:0001583	missense			ENST00000391829.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.668	0.491884	0.12702	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34472	1.36;1.36;1.36	5.84	-6.14	0.02111	.	1.881720	0.02109	N	0.054606	T	0.26195	0.0639	L	0.44542	1.39	0.09310	N	1	B;B	0.16603	0.018;0.011	B;B	0.10450	0.005;0.002	T	0.20107	-1.0285	10	0.56958	D	0.05	4.6019	2.6008	0.04866	0.1314:0.319:0.2688:0.2807	.	2094;2059	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	C	2094;2068;2059	ENSP00000355464:R2094C;ENSP00000355465:R2068C;ENSP00000375705:R2059C	ENSP00000355465:R2068C	R	-	1	0	AHCTF1	245079756	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.163000	0.09997	-1.113000	0.02981	-0.795000	0.03280	CGT		TCGA-IB-7651-01A-11D-2154-08	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	23	565	0	110	1	9.948253e-01	14	190	0	110	2		0	0	0	0	0	2	1	9.999992e-01	22	552	0	110	2								-3.849960	1	1	121412	2	33	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.500000	0.320000	0.720000	0.510000	0.516371	0.500000	0	4.000000e-01	6.200000e-01
AHCTF1	25909	broad.mit.edu	37	1	247013154	247013154	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013154T>C	ENST00000391829.2	-	33	6277	c.6154A>G	c.(6154-6156)Act>Gct	p.T2052A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.T2087A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1			74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		TGACTTTCAGTCTTTTTTGTA	0.363000													Colon(145;197 1800 4745 15099 26333)											0							SO:0001583	missense			ENST00000391829.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	4.100	0.016618	0.07959	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.30448	1.53;1.53;1.53	5.84	0.298	0.15766	.	0.749491	0.12556	N	0.458613	T	0.23410	0.0566	L	0.54323	1.7	0.09310	N	1	B;B	0.29988	0.264;0.172	B;B	0.28011	0.085;0.039	T	0.28038	-1.0056	10	0.16420	T	0.52	-2.1585	6.8913	0.24230	0.5443:0.068:0.0:0.3877	.	2087;2052	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	2087;2061;2052	ENSP00000355464:T2087A;ENSP00000355465:T2061A;ENSP00000375705:T2052A	ENSP00000355465:T2061A	T	-	1	0	AHCTF1	245079777	0.000000	0.05858	0.023000	0.16930	0.003000	0.03518	-0.072000	0.11486	-0.215000	0.10063	-0.266000	0.10368	ACT		TCGA-IB-7651-01A-11D-2154-08	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	9	565	0	113	1	7.149936e-01	3	152	0	113	2		0	0	0	0	0	2	1	9.933324e-01	9	546	0	125	2								-2.976030	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.200000	0.090000	0.360000	0.210000	0.220349	0.200000	0	1.400000e-01	2.900000e-01
AHCTF1	25909	broad.mit.edu	37	1	247013648	247013648	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013648A>C	ENST00000391829.2	-	33	5783	c.5660T>G	c.(5659-5661)aTt>aGt	p.I1887S	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.I1922S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1			74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		ATCATTTATAATTTCAACACT	0.299000													Colon(145;197 1800 4745 15099 26333)											0							SO:0001583	missense			ENST00000391829.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	4.158	0.027809	0.08054	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32023	1.47;1.48;1.48	5.51	4.38	0.52667	.	0.533640	0.19487	N	0.113088	T	0.19366	0.0465	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28850	0.225;0.029;0.017	B;B;B	0.30316	0.114;0.009;0.004	T	0.25984	-1.0116	10	0.08381	T	0.77	-8.8873	5.734	0.18057	0.7059:0.1436:0.1505:0.0	.	748;1922;1887	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	S	1922;1896;1887	ENSP00000355464:I1922S;ENSP00000355465:I1896S;ENSP00000375705:I1887S	ENSP00000355465:I1896S	I	-	2	0	AHCTF1	245080271	0.000000	0.05858	0.691000	0.30163	0.930000	0.56654	0.611000	0.24268	1.018000	0.39521	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	108	259	0	45	1	1	31	69	0	45	2		0	0	0	0	0	2	1	1	102	247	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHCTF1	25909	broad.mit.edu	37	1	247014214	247014214	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247014214A>C	ENST00000391829.2	-	33	5217	c.5094T>G	c.(5092-5094)ccT>ccG	p.P1698P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.P1733P|AHCTF1_ENST00000326225.3_Silent_p.P1707P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1			74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		GGCTCACTAAAGGTATTGTTT	0.348000													Colon(145;197 1800 4745 15099 26333)											0							SO:0001819	synonymous_variant			ENST00000391829.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	15	458	0	100	0	7.007495e-01	0	75	0	100	2		0	0	0	0	0	2	1	9.997862e-01	15	425	0	116	2								-3.472020	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.410000	0.230000	0.640000	0.400000	0.427014	0.410000	0	3.100000e-01	5.300000e-01
AHCTF1	25909	broad.mit.edu	37	1	247040288	247040288	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247040288G>T	ENST00000391829.2	-	23	3024	c.2901C>A	c.(2899-2901)gcC>gcA	p.A967A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.A1002A|AHCTF1_ENST00000326225.3_Silent_p.A976A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1			74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		TCAGCTTCAAGGCAGGCACAT	0.388000													Colon(145;197 1800 4745 15099 26333)											0							SO:0001819	synonymous_variant			ENST00000391829.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	76	301	0	82	1	1	27	80	0	82	2		0	0	0	0	0	2	1	1	74	297	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHCTF1	25909	broad.mit.edu	37	1	247051761	247051761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247051761G>A	ENST00000391829.2	-	18	2326	c.2203C>T	c.(2203-2205)Cga>Tga	p.R735*	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.R770*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1			74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		TTCTCAATTCGCTCTCCTAAC	0.408000													Colon(145;197 1800 4745 15099 26333)											0							SO:0001587	stop_gained			ENST00000391829.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	40	7.950270	0.98577	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.26	0.549	0.17213	.	0.662265	0.15314	N	0.268929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.9514	7.5402	0.27733	0.0666:0.4772:0.3241:0.1321	.	.	.	.	X	770;744;735	.	ENSP00000355465:R744X	R	-	1	2	AHCTF1	245118384	0.291000	0.24352	0.064000	0.19789	0.978000	0.69477	1.627000	0.37050	-0.113000	0.11958	0.305000	0.20034	CGA		TCGA-IB-7651-01A-11D-2154-08	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	11	351	0	64	0	8.865065e-02	0	15	0	64	2		0	0	0	0	0	2	1	9.982377e-01	12	345	0	64	2								-2.721801	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.390000	0.210000	0.660000	0.390000	0.417035	0.390000	0	2.900000e-01	5.300000e-01
AHCTF1	25909	broad.mit.edu	37	1	247081580	247081580	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247081580T>A	ENST00000391829.2	-	2	216	c.93A>T	c.(91-93)gaA>gaT	p.E31D	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E66D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1			74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		GAAGCACAGATTCTAATGTTA	0.358000													Colon(145;197 1800 4745 15099 26333)											0							SO:0001583	missense			ENST00000391829.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.53	1.966872	0.34659	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829;ENST00000478568	T;T;T	0.32272	1.46;1.47;1.48	5.54	-1.94	0.07571	.	0.153579	0.56097	N	0.000030	T	0.09024	0.0223	N	0.08118	0	0.30697	N	0.750698	B;B	0.20368	0.044;0.033	B;B	0.22753	0.041;0.011	T	0.19877	-1.0292	10	0.07813	T	0.8	-17.0811	0.7897	0.01055	0.1864:0.1884:0.2585:0.3668	.	66;31	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	D	66;40;31;31	ENSP00000355464:E66D;ENSP00000355465:E40D;ENSP00000375705:E31D	ENSP00000355465:E40D	E	-	3	2	AHCTF1	245148203	0.936000	0.31750	0.996000	0.52242	0.971000	0.66376	-0.053000	0.11846	-0.206000	0.10203	-0.438000	0.05819	GAA		TCGA-IB-7651-01A-11D-2154-08	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	29	245	0	43	1	5.894800e-01	3	15	0	43	2		0	0	0	0	0	2	1	1	28	240	0	42	2								-12.082510	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.930000	1.000000	1.000000	0.996304	0.990000	1	9.900000e-01	1
ZNF695	57116	broad.mit.edu	37	1	247163304	247163304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247163304G>A	ENST00000339986.7	-	2	223	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695			13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		TACAAACTCCGCTGAGCTGGG	0.433000																								0							SO:0001583	missense			ENST00000339986.7	1	1	hg19	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398650	0.11696	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.03004	4.08;4.08	0.588	-1.18	0.09617	Krueppel-associated box (4);	.	.	.	.	T	0.15046	0.0363	M	0.86864	2.845	0.21386	N	0.999701	D;D;B	0.76494	0.999;0.995;0.169	D;P;B	0.69654	0.965;0.863;0.01	T	0.04693	-1.0933	8	0.72032	D	0.01	.	.	.	.	.	26;26;26	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	W	26	ENSP00000429736:R26W;ENSP00000341236:R26W	ENSP00000428213:R26W	R	-	1	2	ZNF695	245229927	0.200000	0.23398	0.488000	0.27440	0.029000	0.11900	0.703000	0.25646	-0.583000	0.05921	0.195000	0.17529	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	1	0	1	106	298	0	80	0	2.852110e-01	0	4	0	80	2		0	0	0	0	0	2	1	1	106	293	0	80	2								-6.114150	1	1	121356	4	37	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF124	7678	broad.mit.edu	37	1	247319927	247319927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247319927G>T	ENST00000543802.2	-	4	1086	c.997C>A	c.(997-999)Ctt>Att	p.L333I	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.L271I|ZNF124_ENST00000491848.1_5'Flank|ZNF124_ENST00000472531.1_Intron			Q15973	ZN124_HUMAN	zinc finger protein 124			14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)		TGCTTCCAAAGGGTACTAGCA	0.378000																								0							SO:0001583	missense			ENST00000543802.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.92	2.381254	0.42207	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T;T	0.53857	0.6;0.6	0.689	-0.402	0.12404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72581	0.3478	M	0.92367	3.3	0.09310	N	1	P;D	0.62365	0.69;0.991	P;D	0.72982	0.484;0.979	T	0.59484	-0.7446	9	0.66056	D	0.02	.	4.9245	0.13887	0.2653:0.0:0.7347:0.0	.	333;271	Q15973;Q15973-4	ZN124_HUMAN;.	I	294;271;277;137	ENSP00000340749:L271I;ENSP00000440365:L277I	ENSP00000340749:L271I	L	-	1	0	ZNF124	245386550	0.177000	0.23109	0.000000	0.03702	0.745000	0.42441	0.673000	0.25203	-0.168000	0.10853	0.306000	0.20318	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	0	0	0	13	326	0	63	0	8.741673e-02	0	12	0	63	2		0	0	0	0	0	2	1	9.995121e-01	13	321	0	63	2								-2.733888	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.500000	0.280000	0.790000	0.480000	0.518943	0.500000	0	3.700000e-01	6.500000e-01
ZNF124	7678	broad.mit.edu	37	1	247320502	247320502	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247320502T>G	ENST00000543802.2	-	4	511	c.422A>C	c.(421-423)cAg>cCg	p.Q141P	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.Q79P|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Intron			Q15973	ZN124_HUMAN	zinc finger protein 124			14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)		GTGATTTCTCTGATGTATCTG	0.378000																								0							SO:0001583	missense			ENST00000543802.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	8.726	0.915547	0.17907	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.18810	2.19	0.729	0.729	0.18266	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35189	0.0923	M	0.81112	2.525	0.20307	N	0.999911	D;P	0.57899	0.981;0.514	P;B	0.54924	0.764;0.03	T	0.13764	-1.0497	9	0.72032	D	0.01	.	5.6554	0.17640	0.0:0.0:0.0:1.0	.	141;79	Q15973;Q15973-4	ZN124_HUMAN;.	P	102;79;85;85	ENSP00000340749:Q79P	ENSP00000340749:Q79P	Q	-	2	0	ZNF124	245387125	0.064000	0.20934	0.009000	0.14445	0.546000	0.35178	0.514000	0.22786	0.553000	0.29044	0.260000	0.18958	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	1	0	1	80	189	0	50	1	9.089846e-01	3	9	0	50	2		0	0	0	0	0	2	1	1	80	186	0	49	2								-20.000000	1	1	121410	1	28	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF496	84838	broad.mit.edu	37	1	247463849	247463849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463849C>T	ENST00000294753.4	-	9	2200	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496			36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)		CTGCTTGGAACGGCGCTTCAT	0.642000																								0							SO:0001583	missense			ENST00000294753.4	1	1	hg19	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873351	0.72180	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08193	3.13;3.12	4.32	4.32	0.51571	Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000102	T	0.25158	0.0611	M	0.88310	2.945	0.36444	D	0.865651	D;D	0.69078	0.994;0.997	P;P	0.54965	0.674;0.765	T	0.31081	-0.9956	10	0.62326	D	0.03	-40.1058	10.5324	0.44983	0.0:0.8032:0.1968:0.0	.	615;579	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	H	579;615	ENSP00000294753:R579H;ENSP00000355454:R615H	ENSP00000294753:R579H	R	-	2	0	ZNF496	245530472	0.992000	0.36948	1.000000	0.80357	0.957000	0.61999	0.839000	0.27586	2.388000	0.81334	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	1	0	1	75	207	0	36	1	9.999391e-01	12	31	0	36	2		0	0	0	0	0	2	1	1	75	204	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF496	84838	broad.mit.edu	37	1	247463872	247463872	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463872G>A	ENST00000294753.4	-	9	2177	c.1713C>T	c.(1711-1713)caC>caT	p.H571H	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.H607H	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496			36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)		GCAGGCGCTCGTGGCGGAGGA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000294753.4	1	1	hg19	CCDS1631.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	1	0	1	37	323	0	60	1	9.681186e-01	4	47	0	60	2		0	0	0	0	0	2	1	1	37	320	0	59	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.940000	1.000000	1.000000	0.996966	0.990000	1	9.900000e-01	1
ZNF496	84838	broad.mit.edu	37	1	247463988	247463988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463988G>A	ENST00000294753.4	-	9	2061	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496			36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)		TGGTCGTGCCGCTGGAAGGCC	0.622000																								0							SO:0001583	missense			ENST00000294753.4	1	1	hg19	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017666	0.54576	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.30182	1.54;1.54	4.5	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.288637	0.25001	N	0.033912	T	0.42381	0.1200	L	0.34521	1.04	0.40433	D	0.979968	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.41448	-0.9508	10	0.87932	D	0	-32.0751	11.8952	0.52652	0.0:0.0:0.8243:0.1757	.	569;533	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	W	533;569	ENSP00000294753:R533W;ENSP00000355454:R569W	ENSP00000294753:R533W	R	-	1	2	ZNF496	245530611	0.000000	0.05858	0.963000	0.40424	0.174000	0.22865	-0.211000	0.09332	1.225000	0.43566	-0.182000	0.12963	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	1	0	1	147	468	0	91	1	9.999220e-01	6	40	0	91	2		0	0	0	0	0	2	1	1	148	462	0	91	2								-5.164497	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF496	84838	broad.mit.edu	37	1	247492622	247492622	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247492622G>A	ENST00000294753.4	-	3	723	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ZNF496_ENST00000366498.2_Silent_p.L87L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496			36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)		AACTGCTCCAGCACCAGCAGC	0.716000																								0							SO:0001819	synonymous_variant			ENST00000294753.4	0	1	hg19	CCDS1631.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	0	0	0	11	427	0	82	0	7.216380e-02	0	16	0	82	2		0	0	0	0	0	2	1	9.982469e-01	11	421	0	81	2								-10.200300	1	1	121390	1	29	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.330000	0.170000	0.540000	0.330000	0.345544	0.330000	0	2.400000e-01	4.400000e-01
NLRP3	114548	broad.mit.edu	37	1	247582145	247582145	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247582145C>A	ENST00000336119.3	+	1	795	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L17M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3			142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		CCTGGAGGACCTGGAGGATGT	0.552000																								0							SO:0001583	missense			ENST00000336119.3	1	1	hg19	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631923	0.46944	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.49	1.59	0.23543	Pyrin (2);DEATH-like (2);	0.232835	0.22666	N	0.057123	T	0.80639	0.4661	M	0.88241	2.94	0.26695	N	0.971287	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.994;1.0;0.999;1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	6.5523	0.22442	0.0:0.6946:0.0:0.3054	.	17;17;17;17;17	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	17	ENSP00000375704:L17M;ENSP00000355453:L17M;ENSP00000337383:L17M;ENSP00000294752:L17M;ENSP00000355452:L17M;ENSP00000375703:L17M	ENSP00000337383:L17M	L	+	1	2	NLRP3	245648768	0.045000	0.20229	0.519000	0.27824	0.728000	0.41692	0.354000	0.20146	0.254000	0.21573	-0.258000	0.10820	CTG		TCGA-IB-7651-01A-11D-2154-08	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	1	44	219	0	42	0	3.389388e-01	0	7	0	42	2		0	0	0	0	0	2	1	1	44	218	0	42	2								-3.062974	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP3	114548	broad.mit.edu	37	1	247588135	247588135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588135G>A	ENST00000336119.3	+	3	2136	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T|NLRP3_ENST00000366497.2_Missense_Mutation_p.A464T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3			142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		CGGCCTCTGCGCCCACCTCTG	0.597000																								0							SO:0001583	missense			ENST00000336119.3	1	1	hg19	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077163	0.08485	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	4.17	1.24	0.21308	NACHT nucleoside triphosphatase (1);	0.811250	0.10970	N	0.613951	T	0.75064	0.3799	N	0.26162	0.8	0.09310	N	1	B;B;P;B;B	0.50528	0.299;0.424;0.936;0.092;0.07	B;B;B;B;B	0.42462	0.019;0.187;0.388;0.063;0.019	T	0.63756	-0.6565	10	0.14252	T	0.57	.	4.4665	0.11691	0.2042:0.1845:0.6113:0.0	.	464;464;464;464;464	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	464	ENSP00000375704:A464T;ENSP00000355453:A464T;ENSP00000337383:A464T;ENSP00000294752:A464T;ENSP00000355452:A464T;ENSP00000375703:A464T	ENSP00000337383:A464T	A	+	1	0	NLRP3	245654758	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.205000	0.17356	0.299000	0.22661	-0.165000	0.13383	GCC		TCGA-IB-7651-01A-11D-2154-08	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	0	18	224	0	40	0	2.693249e-01	0	13	0	40	2		0	0	0	0	0	2	1	9.999826e-01	17	221	0	39	2								-19.999320	1	1	121408	1	36	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.950000	0.590000	1.000000	1.000000	0.903700	0.950000	1	7.600000e-01	1
NLRP3	114548	broad.mit.edu	37	1	247588472	247588472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588472T>C	ENST00000336119.3	+	3	2473	c.1727T>C	c.(1726-1728)gTt>gCt	p.V576A	NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A|NLRP3_ENST00000366497.2_Missense_Mutation_p.V576A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3			142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		TTGATTTTTGTTGTACGTTTC	0.473000																								0							SO:0001583	missense			ENST00000336119.3	1	1	hg19	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443189	0.25987	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	3.96	3.96	0.45880	.	0.000000	0.48286	D	0.000199	T	0.77136	0.4086	L	0.52364	1.645	0.32027	N	0.599963	B;P;B;B;B	0.37141	0.125;0.584;0.178;0.094;0.057	B;B;B;B;B	0.39094	0.082;0.29;0.108;0.108;0.119	T	0.77694	-0.2492	10	0.26408	T	0.33	.	9.5208	0.39133	0.0:0.0:0.0:1.0	.	576;576;576;576;576	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	A	576	ENSP00000375704:V576A;ENSP00000355453:V576A;ENSP00000337383:V576A;ENSP00000294752:V576A;ENSP00000355452:V576A;ENSP00000375703:V576A	ENSP00000337383:V576A	V	+	2	0	NLRP3	245655095	0.856000	0.29760	0.997000	0.53966	0.875000	0.50365	2.006000	0.40874	2.024000	0.59613	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	1	78	216	0	50	0	7.342884e-01	0	9	0	50	2		0	0	0	0	0	2	1	1	74	213	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP3	114548	broad.mit.edu	37	1	247597464	247597464	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247597464G>A	ENST00000336119.3	+	5	3133	c.2387G>A	c.(2386-2388)aGc>aAc	p.S796N	NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N|NLRP3_ENST00000366497.2_Missense_Mutation_p.S796N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3			142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		GTCCTCAGCAGCAACCAGAAG	0.557000																								0							SO:0001583	missense			ENST00000336119.3	1	1	hg19	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	9.475	1.096623	0.20552	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.93019	0.71;0.62;0.71;-3.15;0.62;-3.15	3.44	1.49	0.22878	.	0.747174	0.12005	N	0.508408	D	0.87997	0.6319	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.002	T	0.76446	-0.2956	10	0.34782	T	0.22	.	7.3519	0.26695	0.2236:0.0:0.7764:0.0	.	739;739;796;796	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	N	796;796;796;739;796;739	ENSP00000375704:S796N;ENSP00000355453:S796N;ENSP00000337383:S796N;ENSP00000294752:S739N;ENSP00000355452:S796N;ENSP00000375703:S739N	ENSP00000337383:S796N	S	+	2	0	NLRP3	245664087	0.000000	0.05858	0.416000	0.26546	0.639000	0.38242	0.242000	0.18087	0.435000	0.26365	0.472000	0.43445	AGC		TCGA-IB-7651-01A-11D-2154-08	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	1	0	1	137	495	0	89	0	8.667686e-01	0	15	0	89	2		0	0	0	0	0	2	1	1	132	486	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRP3	114548	broad.mit.edu	37	1	247611772	247611772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247611772C>A	ENST00000336119.3	+	9	3823	c.3077C>A	c.(3076-3078)cCt>cAt	p.P1026H	NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H|NLRP3_ENST00000366497.2_Missense_Mutation_p.P969H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3			142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		GAAGAAAAGCCTGAGCTGACC	0.498000																								0							SO:0001583	missense			ENST00000336119.3	1	1	hg19	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270158	0.40194	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.76448	-0.89;-0.93;-0.89;-1.02;-0.93;-0.96	4.49	4.49	0.54785	.	0.000000	0.42420	D	0.000708	D	0.86590	0.5969	M	0.78916	2.43	0.33699	D	0.614343	D;B;D;B;D	0.76494	0.999;0.298;0.999;0.268;0.998	D;B;D;B;P	0.69824	0.966;0.384;0.938;0.111;0.879	D	0.90259	0.4299	10	0.72032	D	0.01	.	13.007	0.58710	0.0:1.0:0.0:0.0	.	1006;969;912;969;1026	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	1026;969;1026;912;969;969	ENSP00000375704:P1026H;ENSP00000355453:P969H;ENSP00000337383:P1026H;ENSP00000294752:P912H;ENSP00000355452:P969H;ENSP00000375703:P969H	ENSP00000337383:P1026H	P	+	2	0	NLRP3	245678395	0.944000	0.32072	0.967000	0.41034	0.372000	0.29890	2.457000	0.45005	2.779000	0.95612	0.637000	0.83480	CCT		TCGA-IB-7651-01A-11D-2154-08	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	0	0	0	15	400	0	81	0	1.663555e-01	0	19	0	81	2		0	0	0	0	0	2	1	9.998437e-01	13	389	0	80	2								-3.409900	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.470000	0.270000	0.720000	0.450000	0.485927	0.470000	0	3.600000e-01	6.000000e-01
OR2B11	127623	broad.mit.edu	37	1	247614372	247614372	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247614372G>T	ENST00000318749.6	-	1	936	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11			60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		AGTCTCCTCAGAGCCCCCTTC	0.458000																								0							SO:0001583	missense			ENST00000318749.6	1	1	hg19	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	5.783	0.328900	0.10956	.	.	ENSG00000177535	ENST00000318749	T	0.46451	0.87	5.09	4.18	0.49190	.	0.000000	0.42053	D	0.000778	T	0.43897	0.1268	L	0.54863	1.705	0.09310	N	1	D	0.58620	0.983	P	0.50791	0.65	T	0.31364	-0.9946	10	0.40728	T	0.16	.	7.9045	0.29755	0.1816:0.0:0.8184:0.0	.	305	Q5JQS5	OR2BB_HUMAN	M	305	ENSP00000325682:L305M	ENSP00000325682:L305M	L	-	1	2	OR2B11	245680995	0.000000	0.05858	0.054000	0.19295	0.015000	0.08874	-0.423000	0.07034	1.523000	0.49018	0.643000	0.83706	CTG		TCGA-IB-7651-01A-11D-2154-08	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	1	0	1	414	1247	0	309		0	0	0	0	309	2		0	0	0	0	0	2	1	1	404	1231	0	305	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2W5	441932	broad.mit.edu	37	1	247654784	247654784	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654784T>C	ENST00000522351.1	+	0	415							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5			39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		GGTTGTCATGTCCCATGACCG	0.612000																								0											ENST00000522351.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	0	150	383	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	149	372	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2W5	441932	broad.mit.edu	37	1	247654924	247654924	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654924G>T	ENST00000522351.1	+	0	555							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5			39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		AGACGATGCAGCTCTCCCGGT	0.557000																								0											ENST00000522351.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	0	112	431	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	110	425	0	77	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2W5	441932	broad.mit.edu	37	1	247654999	247654999	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654999G>A	ENST00000522351.1	+	0	630							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5			39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		TGTCTTGTGAGGAAACCATGC	0.572000																								0											ENST00000522351.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	0	204	592	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	199	573	0	104	2								-7.052225	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2W5	441932	broad.mit.edu	37	1	247655213	247655213	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247655213G>A	ENST00000522351.1	+	0	844							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5			39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		TGTACCTGAAGCCGGCCAACA	0.517000																								0											ENST00000522351.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	0	196	539	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1	190	527	0	118	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2C3	81472	broad.mit.edu	37	1	247695426	247695426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247695426G>A	ENST00000366487.3	-	2	749	c.388C>T	c.(388-390)Cca>Tca	p.P130S	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3			43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		TAATGGAGTGGCCTGCAGATG	0.587000																								0							SO:0001583	missense			ENST00000366487.3	1	1	hg19	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751204	0.69533	.	.	ENSG00000196242	ENST00000366487	T	0.01838	4.61	3.89	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	U	0.002008	T	0.14570	0.0352	H	0.97340	3.985	0.29354	N	0.865142	D	0.59357	0.985	P	0.54856	0.762	T	0.21724	-1.0237	10	0.87932	D	0	.	10.5643	0.45163	0.0:0.0:0.8055:0.1945	.	130	Q8N628	OR2C3_HUMAN	S	130	ENSP00000355443:P130S	ENSP00000355443:P130S	P	-	1	0	OR2C3	245762049	1.000000	0.71417	0.805000	0.32314	0.930000	0.56654	6.347000	0.73004	0.925000	0.37094	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	1	0	1	28	161	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	27	159	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999968	0.990000	1	9.900000e-01	1
NIPAL3	57185	broad.mit.edu	37	1	24782746	24782746	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24782746C>T	ENST00000374399.4	+	8	1124	c.756C>T	c.(754-756)acC>acT	p.T252T	NIPAL3_ENST00000339255.2_Silent_p.T252T|NIPAL3_ENST00000003912.3_Silent_p.T170T	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3			14					TGGTGGCAACCGCCGTCTATC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000374399.4	1	1	hg19	CCDS30631.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	3.023	-0.201377	0.06219	.	.	ENSG00000001461	ENST00000432012	.	.	.	5.49	-6.75	0.01738	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40289	-0.9571	4	.	.	.	-47.7037	0.1287	0.00072	0.2951:0.2109:0.1684:0.3256	.	.	.	.	C	31	.	.	R	+	1	0	NIPAL3	24655333	0.000000	0.05858	0.090000	0.20809	0.524000	0.34500	-4.210000	0.00273	-1.102000	0.03023	-0.993000	0.02533	CGC		TCGA-IB-7651-01A-11D-2154-08	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	0	0	1	401	1593	0	406	1	9.999999e-01	43	47	0	406	2		0	0	0	0	0	2	1	1	394	1556	0	400	2								-3.576271	1	1	121412	25	52	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.990000	0.980000	1.000000	1.000000	0.997854	0.990000	1	9.800000e-01	1
OR13G1	441933	broad.mit.edu	37	1	247835608	247835608	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835608T>C	ENST00000359688.2	-	1	757	c.736A>G	c.(736-738)Acc>Gcc	p.T246A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1			35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)		TAGTAAAGGGTCACCACTGTG	0.448000																								0							SO:0001583	missense			ENST00000359688.2	1	1	hg19	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	T	2.562	-0.301627	0.05495	.	.	ENSG00000197437	ENST00000359688	T	0.38560	1.13	4.2	-1.62	0.08372	GPCR, rhodopsin-like superfamily (1);	0.530450	0.15888	N	0.239683	T	0.25865	0.0630	L	0.38953	1.18	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14924	-1.0455	10	0.27785	T	0.31	-38.9238	5.6071	0.17385	0.4267:0.143:0.0:0.4303	.	246	Q8NGZ3	O13G1_HUMAN	A	246	ENSP00000352717:T246A	ENSP00000352717:T246A	T	-	1	0	OR13G1	245902231	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-0.086000	0.11233	-0.381000	0.07882	-0.445000	0.05633	ACC		TCGA-IB-7651-01A-11D-2154-08	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	0	0	1	125	289	1	78		0	0	0	1	78	2		0	0	0	0	0	2	1	1	119	284	1	77	18								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR13G1	441933	broad.mit.edu	37	1	247835916	247835916	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835916C>T	ENST00000359688.2	-	1	449	c.428G>A	c.(427-429)aGc>aAc	p.S143N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1			35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)		CATGACCATGCTGAGCAAGGC	0.468000																								0							SO:0001583	missense			ENST00000359688.2	1	1	hg19	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990006	0.18966	.	.	ENSG00000197437	ENST00000359688	T	0.38240	1.15	4.2	-0.109	0.13584	GPCR, rhodopsin-like superfamily (1);	0.608395	0.14901	N	0.291811	T	0.31009	0.0783	M	0.64997	1.995	0.09310	N	1	B	0.17465	0.022	B	0.21546	0.035	T	0.34054	-0.9844	10	0.72032	D	0.01	-16.9307	4.4	0.11381	0.1502:0.3193:0.4407:0.0898	.	143	Q8NGZ3	O13G1_HUMAN	N	143	ENSP00000352717:S143N	ENSP00000352717:S143N	S	-	2	0	OR13G1	245902539	0.000000	0.05858	0.000000	0.03702	0.594000	0.36715	-0.641000	0.05434	-0.101000	0.12219	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	1	0	1	60	258	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	60	256	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR13G1	441933	broad.mit.edu	37	1	247836210	247836210	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247836210G>T	ENST00000359688.2	-	1	155	c.134C>A	c.(133-135)gCc>gAc	p.A45D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1			35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)		ATAGATTTTGGCAATGATGAT	0.438000																								0							SO:0001583	missense			ENST00000359688.2	1	1	hg19	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357934	0.41801	.	.	ENSG00000197437	ENST00000359688	T	0.10573	2.86	4.33	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.191895	0.25419	N	0.030802	T	0.16557	0.0398	M	0.64630	1.985	0.09310	N	1	P	0.40534	0.72	P	0.47705	0.555	T	0.05468	-1.0883	10	0.87932	D	0	-15.2952	6.4924	0.22123	0.3015:0.0:0.6985:0.0	.	45	Q8NGZ3	O13G1_HUMAN	D	45	ENSP00000352717:A45D	ENSP00000352717:A45D	A	-	2	0	OR13G1	245902833	0.000000	0.05858	0.022000	0.16811	0.005000	0.04900	0.215000	0.17562	0.577000	0.29470	-0.137000	0.14449	GCC		TCGA-IB-7651-01A-11D-2154-08	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	1	0	1	50	255	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	49	243	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1C1	26188	broad.mit.edu	37	1	247921228	247921228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247921228C>T	ENST00000408896.2	-	1	754	c.481G>A	c.(481-483)Gtc>Atc	p.V161I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1			46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		GCTATTAGGACAGTATGCAGG	0.507000																								0							SO:0001583	missense			ENST00000408896.2	1	1	hg19	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	1.094	-0.662999	0.03428	.	.	ENSG00000221888	ENST00000408896	T	0.37058	1.22	3.19	-6.38	0.01957	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18718	0.0449	N	0.26092	0.79	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.31110	-0.9955	9	0.72032	D	0.01	.	1.1296	0.01743	0.3319:0.3316:0.1089:0.2276	.	161	Q15619	OR1C1_HUMAN	I	161	ENSP00000386138:V161I	ENSP00000386138:V161I	V	-	1	0	OR1C1	245987851	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.647000	0.00860	-1.514000	0.01786	-1.099000	0.02127	GTC		TCGA-IB-7651-01A-11D-2154-08	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1	1	0	1	48	149	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	48	148	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR14A16	284532	broad.mit.edu	37	1	247978167	247978167	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978167A>C	ENST00000357627.1	-	1	864	c.865T>G	c.(865-867)Ttg>Gtg	p.L289V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16			45					TTGTTTCTCAAACTGTATATA	0.393000													Ovarian(112;180 1586 15073 21914 33526)											0							SO:0001583	missense			ENST00000357627.1	1	1	hg19	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258888	0.39896	.	.	ENSG00000196772	ENST00000357627	T	0.46451	0.87	3.69	-1.01	0.10169	.	0.462575	0.15624	U	0.252752	T	0.72415	0.3457	H	0.97983	4.12	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.63111	-0.6710	10	0.66056	D	0.02	.	9.6549	0.39919	0.543:0.0:0.457:0.0	.	289	Q8NHC5	O14AG_HUMAN	V	289	ENSP00000350248:L289V	ENSP00000350248:L289V	L	-	1	2	OR14A16	246044790	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.549000	0.06041	-0.123000	0.11745	-0.344000	0.07964	TTG		TCGA-IB-7651-01A-11D-2154-08	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	0	0	1	48	225	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	48	221	0	46	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR14A16	284532	broad.mit.edu	37	1	247978191	247978191	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978191T>C	ENST00000357627.1	-	1	840	c.841A>G	c.(841-843)Acc>Gcc	p.T281A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16			45					GGATTAAAGGTTGGGGGCAGC	0.408000													Ovarian(112;180 1586 15073 21914 33526)											0							SO:0001583	missense			ENST00000357627.1	1	1	hg19	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353733	0.11182	.	.	ENSG00000196772	ENST00000357627	T	0.34472	1.36	3.69	-6.23	0.02052	GPCR, rhodopsin-like superfamily (1);	0.484707	0.16856	U	0.196758	T	0.13884	0.0336	N	0.17674	0.51	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.35076	-0.9803	10	0.07644	T	0.81	.	6.2342	0.20754	0.6221:0.1559:0.0:0.222	.	281	Q8NHC5	O14AG_HUMAN	A	281	ENSP00000350248:T281A	ENSP00000350248:T281A	T	-	1	0	OR14A16	246044814	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.457000	0.02374	-1.478000	0.01869	-1.447000	0.01057	ACC		TCGA-IB-7651-01A-11D-2154-08	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	1	0	1	49	224	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	49	218	0	48	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR11L1	391189	broad.mit.edu	37	1	248004781	248004781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004781G>A	ENST00000355784.2	-	1	473	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1			57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)		CTGGCACAGAGCCCACGATGC	0.602000																								0							SO:0001583	missense			ENST00000355784.2	0	1	hg19	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	4.231	0.041828	0.08196	.	.	ENSG00000197591	ENST00000355784	T	0.00227	8.5	4.42	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	0.993514	0.08150	N	0.990229	T	0.00109	0.0003	N	0.20530	0.585	0.09310	N	1	B	0.15141	0.012	B	0.21151	0.033	T	0.19418	-1.0306	10	0.59425	D	0.04	.	6.4674	0.21990	0.1077:0.5241:0.2248:0.1434	.	140	Q8NGX0	O11L1_HUMAN	F	140	ENSP00000348033:L140F	ENSP00000348033:L140F	L	-	1	0	OR11L1	246071404	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.775000	0.01783	-1.397000	0.02068	-1.233000	0.01565	CTC		TCGA-IB-7651-01A-11D-2154-08	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	0	0	0	9	400	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	9.935876e-01	9	389	0	73	2								-8.639247	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.290000	0.140000	0.500000	0.270000	0.308107	0.290000	0	2.000000e-01	4.000000e-01
OR11L1	391189	broad.mit.edu	37	1	248004962	248004962	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004962G>T	ENST00000355784.2	-	1	292	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1			57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)		CTAGGAGAAGGGGCACAGTGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000355784.2	1	1	hg19	CCDS31098.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	1	0	1	48	130	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	44	125	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR11L1	391189	broad.mit.edu	37	1	248005130	248005130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248005130C>T	ENST00000355784.2	-	1	124	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1			57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)		GCAGGGCCTGCCATTCAAGAA	0.488000																								0							SO:0001587	stop_gained			ENST00000355784.2	0	1	hg19	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381564	0.82792	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.2	4.2	0.49525	.	0.000000	0.34484	U	0.003929	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.4167	0.44327	0.0:0.9079:0.0:0.0921	.	.	.	.	X	23	.	ENSP00000348033:W23X	W	-	3	0	OR11L1	246071753	0.000000	0.05858	0.989000	0.46669	0.767000	0.43475	-0.051000	0.11885	2.331000	0.79229	0.543000	0.68304	TGG		TCGA-IB-7651-01A-11D-2154-08	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	1	0	0	16	243	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.999241e-01	16	235	0	51	2								-19.025450	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.790000	0.470000	1.000000	1.000000	0.799711	0.790000	0	6.200000e-01	1
TRIM58	25893	broad.mit.edu	37	1	248031265	248031265	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248031265A>C	ENST00000366481.3	+	5	819	c.771A>C	c.(769-771)agA>agC	p.R257S	OR2W3_ENST00000537741.1_5'Flank	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58			63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		CTCTTCCCAGAAGTAAGGCTG	0.527000																								0							SO:0001630	splice_region_variant			ENST00000366481.3	0	1	hg19	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257475	0.39896	.	.	ENSG00000162722	ENST00000366481	T	0.04862	3.54	5.12	1.62	0.23740	.	0.246014	0.28683	N	0.014494	T	0.09555	0.0235	M	0.79805	2.47	0.33518	D	0.591953	P	0.40066	0.701	B	0.39840	0.311	T	0.09422	-1.0675	9	.	.	.	.	6.1537	0.20326	0.7052:0.0:0.2948:0.0	.	257	Q8NG06	TRI58_HUMAN	S	257	ENSP00000355437:R257S	.	R	+	3	2	TRIM58	246097888	1.000000	0.71417	0.885000	0.34714	0.016000	0.09150	1.983000	0.40648	0.482000	0.27582	-0.290000	0.09829	AGA		TCGA-IB-7651-01A-11D-2154-08	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	0	0	0	11	114	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.985163e-01	12	112	0	19	2								-17.001360	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.610000	1.000000	1.000000	0.946483	0.990000	1	8.500000e-01	1
OR2W3	343171	broad.mit.edu	37	1	248059435	248059435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059435G>A	ENST00000360358.3	+	1	547	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	OR2W3_ENST00000537741.1_Missense_Mutation_p.A183T	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	p.A183S(1)		49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)		TGAGATGCCCGCCCTGATCCG	0.637000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000360358.3	1	1	hg19	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319015	0.41096	2.27E-4	3.49E-4	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00130	8.69;8.69	5.28	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.00271	0.0008	M	0.80332	2.49	0.09310	N	1	D	0.54047	0.964	P	0.51385	0.668	T	0.38564	-0.9655	10	0.66056	D	0.02	.	5.4106	0.16346	0.0813:0.3111:0.4944:0.1132	.	183	Q7Z3T1	OR2W3_HUMAN	T	183	ENSP00000445853:A183T;ENSP00000353516:A183T	ENSP00000353516:A183T	A	+	1	0	OR2W3	246126058	0.000000	0.05858	0.026000	0.17262	0.275000	0.26752	-0.601000	0.05687	0.784000	0.33661	0.603000	0.83216	GCC		TCGA-IB-7651-01A-11D-2154-08	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	1	0	1	96	505	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	94	490	0	112	2								-3.222437	1	1	121412	22	48	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059536C>A	ENST00000360358.3	+	1	648	c.648C>A	c.(646-648)ctC>ctA	p.L216L	OR2W3_ENST00000537741.1_Silent_p.L216L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3			49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)		TTATCCTGCTCTCTTACAGCT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000360358.3	1	1	hg19	CCDS31099.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	0	0	1	224	751	0	172		0	0	0	0	172	2		0	0	0	0	0	2	1	1	220	736	0	170	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2T8	343172	broad.mit.edu	37	1	248084330	248084330	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248084330G>T	ENST00000319968.4	+	1	11	c.11G>T	c.(10-12)gGg>gTg	p.G4V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8			34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		ATGGAAAATGGGAGCTATACC	0.398000																								0							SO:0001583	missense			ENST00000319968.4	1	1	hg19	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585667	0.13749	.	.	ENSG00000177462	ENST00000319968	T	0.00346	8.01	3.65	-0.732	0.11147	.	1.218620	0.06205	U	0.683946	T	0.00144	0.0004	N	0.11560	0.145	0.20821	N	0.999847	B	0.17268	0.021	B	0.20767	0.031	T	0.24440	-1.0160	10	0.30854	T	0.27	.	0.4146	0.00447	0.2891:0.1369:0.3199:0.254	.	4	A6NH00	OR2T8_HUMAN	V	4	ENSP00000326225:G4V	ENSP00000326225:G4V	G	+	2	0	OR2T8	246150953	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.014000	0.12656	-0.050000	0.13356	0.603000	0.83216	GGG		TCGA-IB-7651-01A-11D-2154-08	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	1	0	1	110	419	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	109	411	0	69	2								-3.827935	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2L8	391190	broad.mit.edu	37	1	248112729	248112729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112729C>T	ENST00000357191.3	+	1	570	c.570C>T	c.(568-570)gaC>gaT	p.D190D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)			42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)		CCTGCATGGACACCTGGGTCT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000357191.3	1	1	hg19	CCDS31101.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2	1	0	1	63	264	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	33	213	0	79	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2L8	391190	broad.mit.edu	37	1	248112746	248112746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112746G>A	ENST00000357191.3	+	1	587	c.587G>A	c.(586-588)gGc>gAc	p.G196D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)			42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)		GTCTATGAGGGCACAGTGTTT	0.473000																								0							SO:0001583	missense			ENST00000357191.3	0	1	hg19	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	3.028	-0.200230	0.06219	.	.	ENSG00000196936	ENST00000357191	T	0.00091	8.74	1.21	-2.08	0.07254	GPCR, rhodopsin-like superfamily (1);	0.581525	0.12962	U	0.424910	T	0.00039	0.0001	N	0.01640	-0.785	0.09310	N	1	B	0.28178	0.202	B	0.29440	0.102	T	0.08310	-1.0728	10	0.35671	T	0.21	.	0.2585	0.00215	0.329:0.1455:0.2651:0.2604	.	196	Q8NGY9	OR2L8_HUMAN	D	196	ENSP00000349719:G196D	ENSP00000349719:G196D	G	+	2	0	OR2L8	246179369	0.000000	0.05858	0.701000	0.30321	0.651000	0.38670	-0.015000	0.12634	-0.726000	0.04895	0.479000	0.44913	GGC		TCGA-IB-7651-01A-11D-2154-08	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2	0	0	1	50	204	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	15	139	0	60	2								-20.000000	1	0	121302	2	19	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2AK2	391191	broad.mit.edu	37	1	248129025	248129025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248129025G>A	ENST00000366480.3	+	1	491	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2			36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)		CTTCTCCTTGGTTTTATGTCT	0.443000													Melanoma(45;390 1181 23848 28461 41504)											0							SO:0001583	missense			ENST00000366480.3	1	1	hg19	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.801589	0.50315	.	.	ENSG00000187080	ENST00000366480	T	0.01347	4.99	3.03	-2.6	0.06190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04543	0.0124	M	0.77616	2.38	0.09310	N	1	D	0.64830	0.994	P	0.58210	0.835	T	0.19095	-1.0316	9	0.87932	D	0	.	5.9086	0.19014	0.1081:0.6127:0.1617:0.1175	.	131	Q8NG84	O2AK2_HUMAN	D	131	ENSP00000355436:G131D	ENSP00000355436:G131D	G	+	2	0	OR2AK2	246195648	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.134000	0.10436	-0.202000	0.10268	0.455000	0.32223	GGT		TCGA-IB-7651-01A-11D-2154-08	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	0	0	1	348	1087	1	304		0	0	0	1	304	2		0	0	0	0	0	2	1	1	339	1066	1	304	17								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2L2	26246	broad.mit.edu	37	1	248202496	248202496	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248202496A>G	ENST00000366479.2	+	1	1023	c.927A>G	c.(925-927)tcA>tcG	p.S309S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2			42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)		AAATCTTCTCAGTGAAAATGT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000366479.2	1	1	hg19	CCDS31103.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	1	0	1	71	404	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	69	393	0	103	2								-20.000000	1	1	121408	5	38	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2L13	284521	broad.mit.edu	37	1	248263566	248263566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248263566C>T	ENST00000358120.2	+	2	1034	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	OR2L13_ENST00000366478.2_Silent_p.L297L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13			59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)		TAAGGAAGTCCTGGGGGCTAT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000358120.2	1	1	hg19	CCDS1637.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	0	0	0	11	334	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.982917e-01	11	330	0	51	2								-3.327148	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.410000	0.220000	0.690000	0.400000	0.437265	0.410000	0	3.000000e-01	5.500000e-01
OR2M5	127059	broad.mit.edu	37	1	248308805	248308805	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308805C>A	ENST00000366476.1	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5			49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)		GCTGTTATGTCTTATGACCGC	0.453000																								0							SO:0001583	missense			ENST00000366476.1	1	1	hg19	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	12.00	1.805259	0.31961	.	.	ENSG00000162727	ENST00000366476	T	0.52754	0.65	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.267855	0.19552	U	0.111557	T	0.68192	0.2974	H	0.94183	3.505	0.34401	D	0.695327	B	0.29188	0.236	B	0.41988	0.372	T	0.81239	-0.1023	10	0.87932	D	0	.	14.4562	0.67418	0.0:1.0:0.0:0.0	.	119	A3KFT3	OR2M5_HUMAN	Y	119	ENSP00000355432:S119Y	ENSP00000355432:S119Y	S	+	2	0	OR2M5	246375428	0.997000	0.39634	0.177000	0.23020	0.157000	0.22087	4.043000	0.57354	1.528000	0.49103	0.492000	0.49549	TCT		TCGA-IB-7651-01A-11D-2154-08	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	1	0	1	320	1689	0	369		0	0	0	0	369	2		0	0	0	0	0	2	1	1	314	1643	0	367	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2M5	127059	broad.mit.edu	37	1	248308934	248308934	+	Missense_Mutation	SNP	C	C	T	rs77923536	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308934C>T	ENST00000366476.1	+	1	485	c.485C>T	c.(484-486)gCg>gTg	p.A162V		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5			49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)		GATGCTGTAGCGACATTTTCC	0.448000																								0							SO:0001583	missense			ENST00000366476.1	1	0	hg19	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	3.823	-0.037305	0.07497	0.005674	0.025698	ENSG00000162727	ENST00000366476	T	0.00031	8.89	3.28	0.678	0.17969	GPCR, rhodopsin-like superfamily (1);	0.578183	0.12944	N	0.426355	T	0.00039	0.0001	N	0.04994	-0.135	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.08722	-1.0708	10	0.10902	T	0.67	.	1.0102	0.01495	0.146:0.2195:0.1482:0.4863	.	162	A3KFT3	OR2M5_HUMAN	V	162	ENSP00000355432:A162V	ENSP00000355432:A162V	A	+	2	0	OR2M5	246375557	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	-0.556000	0.05992	-0.178000	0.10672	0.492000	0.49549	GCG		TCGA-IB-7651-01A-11D-2154-08	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	0	0	1	267	1448	0	309		0	0	0	0	309	2		0	0	0	0	0	2	1	1	263	1409	0	307	2								-7.120604	1	0	121412	2341	71	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2M5	127059	broad.mit.edu	37	1	248308961	248308961	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308961C>A	ENST00000366476.1	+	1	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5			49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)		TACTGTGGGTCTCGGGAAATA	0.438000																								0							SO:0001583	missense			ENST00000366476.1	1	1	hg19	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	19.29	3.799247	0.70567	.	.	ENSG00000162727	ENST00000366476	T	0.38722	1.12	3.28	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.879412	0.09254	U	0.827497	T	0.69160	0.3080	M	0.92691	3.335	0.09310	N	1	D	0.53312	0.959	P	0.62649	0.905	T	0.55134	-0.8188	10	0.87932	D	0	.	10.0254	0.42068	0.0:0.8936:0.0:0.1064	.	171	A3KFT3	OR2M5_HUMAN	Y	171	ENSP00000355432:S171Y	ENSP00000355432:S171Y	S	+	2	0	OR2M5	246375584	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	1.011000	0.29911	0.476000	0.27440	0.492000	0.49549	TCT		TCGA-IB-7651-01A-11D-2154-08	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	1	0	1	241	1535	0	343		0	0	0	0	343	2		0	0	0	0	0	2	1	1	239	1481	0	341	2								-20.000000	1	0	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2T33	391195	broad.mit.edu	37	1	248436839	248436839	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248436839G>T	ENST00000318021.2	-	1	299	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33			67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)		ACCACAGCCAGCGCGGGAGAT	0.577000																								0							SO:0001583	missense			ENST00000318021.2	1	1	hg19	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	10.28	1.307644	0.23821	.	.	ENSG00000177212	ENST00000318021	T	0.00397	7.57	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.230385	0.21954	U	0.066696	T	0.00666	0.0022	M	0.70275	2.135	0.09310	N	1	D	0.56287	0.975	P	0.60345	0.873	T	0.46992	-0.9151	10	0.56958	D	0.05	.	10.2203	0.43192	0.0:0.0:0.8002:0.1997	.	93	Q8NG76	O2T33_HUMAN	D	93	ENSP00000324687:A93D	ENSP00000324687:A93D	A	-	2	0	OR2T33	246503462	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.134000	0.10436	1.437000	0.47472	0.494000	0.49563	GCT		TCGA-IB-7651-01A-11D-2154-08	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	1	0	0	87	1092	0	243		0	0	0	0	243	2		0	0	0	0	0	2	1	1	42	385	0	286	2								-16.716510	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.930000	0.750000	1.000000	1.000000	0.929395	0.930000	1	8.400000e-01	1
OR2T12	127064	broad.mit.edu	37	1	248458261	248458261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248458261A>G	ENST00000317996.1	-	1	619	c.620T>C	c.(619-621)gTc>gCc	p.V207A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12			43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)		GGAAAAGGGGACCAGGAGCAT	0.547000																								0							SO:0001583	missense			ENST00000317996.1	1	1	hg19	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	9.021	0.984884	0.18889	.	.	ENSG00000177201	ENST00000317996	T	0.39229	1.09	1.55	0.167	0.15006	GPCR, rhodopsin-like superfamily (1);	1.119980	0.07080	U	0.836949	T	0.28267	0.0698	N	0.17723	0.515	0.09310	N	1	B	0.23806	0.091	B	0.30716	0.119	T	0.40156	-0.9578	10	0.62326	D	0.03	.	4.0928	0.09976	0.5564:0.283:0.1606:0.0	.	207	Q8NG77	O2T12_HUMAN	A	207	ENSP00000324583:V207A	ENSP00000324583:V207A	V	-	2	0	OR2T12	246524884	0.000000	0.05858	0.021000	0.16686	0.193000	0.23685	-0.036000	0.12185	0.540000	0.28808	0.147000	0.16070	GTC		TCGA-IB-7651-01A-11D-2154-08	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	1	0	0	135	373	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	62	148	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR14C36	127066	broad.mit.edu	37	1	248512485	248512485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248512485C>T	ENST00000317861.1	+	1	409	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36			43					CGTGAACTCTCGAATCTGCAT	0.507000																								0							SO:0001587	stop_gained			ENST00000317861.1	0	1	hg19	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430346	0.62844	.	.	ENSG00000177174	ENST00000317861	.	.	.	4.05	1.93	0.25924	.	1.246200	0.06113	N	0.667560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2541	0.49043	0.4719:0.5281:0.0:0.0	.	.	.	.	X	137	.	ENSP00000324534:R137X	R	+	1	2	OR14C36	246579108	0.000000	0.05858	0.001000	0.08648	0.715000	0.41141	-0.209000	0.09358	0.879000	0.35944	0.395000	0.25975	CGA		TCGA-IB-7651-01A-11D-2154-08	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	1	0	1	82	254	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	82	246	0	67	2								-4.405488	1	1	121412	1	38	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2T4	127074	broad.mit.edu	37	1	248525877	248525877	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248525877C>A	ENST00000366475.1	+	1	995	c.995C>A	c.(994-996)gCt>gAt	p.A332D		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4			56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)		GTCATGGGGGCTCTGAAGAAA	0.408000																								0							SO:0001583	missense			ENST00000366475.1	1	1	hg19	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087079	0.36855	.	.	ENSG00000196944	ENST00000366475	T	0.46063	0.88	3.0	2.06	0.26882	.	0.000000	0.46758	D	0.000273	T	0.62612	0.2442	M	0.89534	3.04	0.09310	N	1	D	0.57899	0.981	P	0.61592	0.891	T	0.55768	-0.8089	10	0.87932	D	0	.	7.8187	0.29276	0.1828:0.6396:0.1776:0.0	.	332	Q8NH00	OR2T4_HUMAN	D	332	ENSP00000355431:A332D	ENSP00000355431:A332D	A	+	2	0	OR2T4	246592500	0.002000	0.14202	0.502000	0.27614	0.981000	0.71138	1.341000	0.33907	0.436000	0.26393	0.585000	0.79938	GCT		TCGA-IB-7651-01A-11D-2154-08	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	1	0	1	131	705	0	173		0	0	0	0	173	2		0	0	0	0	0	2	1	1	129	693	0	173	2								-20.000000	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RCAN3	11123	broad.mit.edu	37	1	24859587	24859587	+	Silent	SNP	C	C	T	rs34116411	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24859587C>T	ENST00000374395.4	+	4	697	c.384C>T	c.(382-384)ggC>ggT	p.G128G	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3			7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)			AGATGTCCGGCGAAGTGCGGG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000374395.4	1	0	hg19	CCDS254.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2	0	0	1	24	133	0	32	1	9.989848e-01	21	43	0	32	2		0	0	0	0	0	2	1	9.999997e-01	23	125	0	31	2								-3.627276	1	1	121304	224	52	1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.940000	0.760000	1.000000	0.990000	0.931174	0.940000	1	8.600000e-01	9.900000e-01
OR2T3	343173	broad.mit.edu	37	1	248636985	248636985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248636985C>A	ENST00000359594.2	+	1	359	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3			31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)		CTACCTGACCCTGGCTGGAGC	0.552000																								0							SO:0001583	missense			ENST00000359594.2	1	1	hg19	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457406	0.43634	.	.	ENSG00000196539	ENST00000359594	T	0.02525	4.26	2.22	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09069	0.0224	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01316	-1.1387	9	0.54805	T	0.06	.	4.5458	0.12079	0.5484:0.258:0.0:0.1936	.	112	Q8NH03	OR2T3_HUMAN	M	112	ENSP00000352604:L112M	ENSP00000352604:L112M	L	+	1	2	OR2T3	246703608	0.000000	0.05858	0.000000	0.03702	0.663000	0.39108	-5.284000	0.00135	-1.852000	0.01166	0.186000	0.17326	CTG		TCGA-IB-7651-01A-11D-2154-08	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	1	0	1	63	378	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	62	363	1	81	18								-3.076222	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2G6	391211	broad.mit.edu	37	1	248685389	248685389	+	Missense_Mutation	SNP	G	G	A	rs138151830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248685389G>A	ENST00000343414.4	+	1	474	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	p.A148T(1)		61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		GGCCGGTGGAGCATGGCTCAG	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000343414.4	1	1	hg19	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.10	1.538821	0.27475	.	.	ENSG00000188558	ENST00000343414	T	0.37584	1.19	3.46	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	U	0.000985	T	0.40719	0.1128	L	0.38733	1.17	0.09310	N	1	D	0.64830	0.994	D	0.66351	0.943	T	0.05666	-1.0871	10	0.49607	T	0.09	.	5.6872	0.17809	0.1153:0.378:0.5068:0.0	.	148	Q5TZ20	OR2G6_HUMAN	T	148	ENSP00000341291:A148T	ENSP00000341291:A148T	A	+	1	0	OR2G6	246752012	0.000000	0.05858	0.008000	0.14137	0.021000	0.10359	-0.504000	0.06375	1.747000	0.51819	0.400000	0.26472	GCA		TCGA-IB-7651-01A-11D-2154-08	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	1	0	1	78	214	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	76	210	0	39	2								-3.319859	1	1	121412	26	44	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2T11	127077	broad.mit.edu	37	1	248790026	248790026	+	Missense_Mutation	SNP	C	C	T	rs150548690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248790026C>T	ENST00000330803.2	-	1	465	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)			28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)		ACACTTCTTGCGGTTCATCAG	0.547000																								0							SO:0001583	missense			ENST00000330803.2	1	1	hg19	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.015331	0.00422	0.0	1.18E-4	ENSG00000183130	ENST00000330803	T	0.25250	1.81	4.38	-5.68	0.02436	GPCR, rhodopsin-like superfamily (1);	0.947310	0.08686	N	0.908658	T	0.08447	0.0210	N	0.10837	0.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35151	-0.9800	10	0.10902	T	0.67	.	2.4794	0.04583	0.2046:0.2037:0.1007:0.491	.	135	Q8NH01	O2T11_HUMAN	H	135	ENSP00000328934:R135H	ENSP00000328934:R135H	R	-	2	0	OR2T11	246856649	0.000000	0.05858	0.012000	0.15200	0.082000	0.17680	-0.485000	0.06520	-1.147000	0.02851	-0.877000	0.02976	CGC		TCGA-IB-7651-01A-11D-2154-08	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	1	0	1	75	347	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	74	335	0	77	2								-2.869222	1	1	118822	4	40	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3BP5L	80851	broad.mit.edu	37	1	249108782	249108782	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249108782G>A	ENST00000366472.5	-	5	1632	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.L103L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like			23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		TCGTACCGCAGCGCTGCCTTC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000366472.5	1	1	hg19	CCDS31126.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	1	0	0	19	270	0	42	1	9.951880e-01	10	113	0	42	2		0	0	0	0	0	2	1	9.999917e-01	19	269	0	42	2								-19.999160	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.840000	0.530000	1.000000	1.000000	0.838659	0.840000	0	6.700000e-01	1
ZNF672	79894	broad.mit.edu	37	1	249142057	249142057	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142057T>C	ENST00000306562.3	+	4	1330	c.584T>C	c.(583-585)gTc>gCc	p.V195A		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672			5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		CGACCCCGTGTCTCAGACGCC	0.697000																								0							SO:0001583	missense			ENST00000306562.3	1	1	hg19	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285914	0.01387	.	.	ENSG00000171161	ENST00000306562	T	0.06933	3.24	2.62	0.449	0.16619	.	1.677950	0.04259	N	0.340137	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40608	-0.9554	9	.	.	.	.	2.3387	0.04254	0.208:0.4964:0.1752:0.1205	.	195	Q499Z4	ZN672_HUMAN	A	195	ENSP00000421915:V195A	.	V	+	2	0	ZNF672	247108680	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-0.153000	0.11137	-1.096000	0.02151	GTC		TCGA-IB-7651-01A-11D-2154-08	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	1	0	1	13	51	0	12	1	9.839610e-01	7	24	0	12	2		0	0	0	0	0	2	1	9.996581e-01	12	50	0	12	2								-19.999990	1	0	120368	1	20	1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999924	0.990000	1	9.900000e-01	1
ZNF672	79894	broad.mit.edu	37	1	249142226	249142226	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142226C>T	ENST00000306562.3	+	4	1499	c.753C>T	c.(751-753)ggC>ggT	p.G251G		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672			5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		CACACACGGGCGAGAAGCCGT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000306562.3	0	1	hg19	CCDS1638.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	0	0	0	6	30	0	9	1	9.785940e-01	6	34	0	9	2		0	0	0	0	0	2	1	9.695550e-01	6	30	0	9	2								-13.996460	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.990000	0.910000	1.000000	1.000000	0.993810	0.990000	1	9.900000e-01	1
ZNF692	55657	broad.mit.edu	37	1	249151671	249151671	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249151671A>G	ENST00000306601.4	-	4	403	c.237T>C	c.(235-237)ggT>ggC	p.G79G	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Silent_p.G79G|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000451251.1_Silent_p.G84G|ZNF692_ENST00000366469.5_Silent_p.G79G|ZNF692_ENST00000366471.3_Silent_p.G79G	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692			17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		GATACTGCAGACCTTTTGGAG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000306601.4	1	1	hg19	CCDS31127.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	0	0	0	12	413	0	47	1	1.785397e-01	2	23	0	47	2		0	0	0	0	0	2	1	9.990782e-01	11	409	0	47	2								-11.654070	1	1	0	0		1	1	2	3	2.185793	1	0.170000	2.060000	2.350230e-01	0.370000	0.190000	0.600000	0.360000	0.385649	0.370000	0	2.700000e-01	4.900000e-01
PGBD2	267002	broad.mit.edu	37	1	249212090	249212090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249212090G>A	ENST00000329291.5	+	3	1454	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H|PGBD2_ENST00000355360.4_Missense_Mutation_p.R185H	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2			14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		CTGACCAGTCGTCACTCTGGA	0.552000																								0							SO:0001583	missense			ENST00000329291.5	1	1	hg19	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451934	0.01080	2.27E-4	0.0	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.20200	2.09;2.09;2.09	3.58	1.47	0.22746	.	0.477093	0.15029	N	0.284560	T	0.18759	0.0450	M	0.64997	1.995	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.23797	-1.0178	10	0.27785	T	0.31	-5.3232	6.2778	0.20991	0.223:0.0:0.777:0.0	.	433;436	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	185;436;433	ENSP00000355424:R185H;ENSP00000331643:R436H;ENSP00000439950:R433H	ENSP00000331643:R436H	R	+	2	0	PGBD2	247178713	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	0.181000	0.16880	0.217000	0.20800	0.467000	0.42956	CGT		TCGA-IB-7651-01A-11D-2154-08	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1	1	0	1	27	232	0	38	1	8.563831e-01	4	28	0	38	2		0	0	0	0	0	2	1	1	27	229	0	38	2								-20.000000	1	1	121412	10	41	1						0.170000	2.060000									0	0
SRRM1	10250	broad.mit.edu	37	1	24993313	24993313	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24993313C>T	ENST00000323848.9	+	13	1951	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1			36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)			TAGTGGTAGACGGAGGAGAAG	0.547000													Ovarian(68;897 1494 3282 17478)											0							SO:0001583	missense			ENST00000323848.9	1	1	hg19	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865956	0.51588	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.58210	0.35;0.39;0.39	5.75	3.84	0.44239	.	0.000000	0.56097	D	0.000026	T	0.50411	0.1614	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.996;0.993	P;B	0.47744	0.556;0.353	T	0.51293	-0.8724	10	0.72032	D	0.01	-1.6334	7.3672	0.26781	0.3668:0.5543:0.0:0.079	.	558;546	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	W	546;558;555	ENSP00000326261:R546W;ENSP00000391430:R558W;ENSP00000363510:R555W	ENSP00000326261:R546W	R	+	1	2	SRRM1	24865900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.679000	0.37597	0.723000	0.32274	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	1	0	0	45	192	0	33	1	1	36	93	0	33	2		0	0	0	0	0	2	1	1	45	185	0	33	2								-3.521045	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.968669	0.970000	1	9.300000e-01	1
SRRM1	10250	broad.mit.edu	37	1	24996768	24996768	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24996768A>C	ENST00000323848.9	+	15	2677	c.2362A>C	c.(2362-2364)Aag>Cag	p.K788Q	SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q|SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1			36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)			ACCGGTCAAAAAGGCCAAAAG	0.517000													Ovarian(68;897 1494 3282 17478)											0							SO:0001583	missense			ENST00000323848.9	1	1	hg19	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929630	0.73327	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56275	0.68;0.47;0.47	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	T	0.48978	0.1530	L	0.46157	1.445	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.38803	0.282;0.146	T	0.54296	-0.8315	10	0.62326	D	0.03	-3.162	15.7229	0.77728	1.0:0.0:0.0:0.0	.	800;788	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	788;800;797	ENSP00000326261:K788Q;ENSP00000391430:K800Q;ENSP00000363510:K797Q	ENSP00000326261:K788Q	K	+	1	0	SRRM1	24869355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.410000	0.90225	2.116000	0.64780	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	1	0	1	67	500	0	109	1	1	27	184	0	109	2		0	0	0	0	0	2	1	1	67	480	0	108	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.957509	0.960000	1	9.100000e-01	9.900000e-01
SRRM1	10250	broad.mit.edu	37	1	24997983	24997983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24997983C>T	ENST00000323848.9	+	16	2822	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V|SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1			36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)			aagGAAAAGgctgtggctgca	0.498000													Ovarian(68;897 1494 3282 17478)											0							SO:0001583	missense			ENST00000323848.9	0	1	hg19	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138058	0.77775	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.47528	0.84;0.85;0.85	5.81	5.81	0.92471	.	0.200219	0.34959	N	0.003541	T	0.32526	0.0832	N	0.12746	0.255	0.80722	D	1	P;B	0.36909	0.573;0.209	B;B	0.32090	0.14;0.066	T	0.23190	-1.0195	10	0.52906	T	0.07	-2.9051	18.6677	0.91497	0.0:1.0:0.0:0.0	.	848;836	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	V	836;848;845	ENSP00000326261:A836V;ENSP00000391430:A848V;ENSP00000363510:A845V	ENSP00000326261:A836V	A	+	2	0	SRRM1	24870570	0.998000	0.40836	0.989000	0.46669	0.983000	0.72400	4.973000	0.63763	2.741000	0.93983	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	1	0	1	22	141	0	36	1	9.999999e-01	27	161	0	36	2		0	0	0	0	0	2	1	9.999989e-01	22	135	0	35	2								-12.055020	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.930000	0.720000	1.000000	0.990000	0.915665	0.930000	1	8.300000e-01	9.900000e-01
RUNX3	864	broad.mit.edu	37	1	25229078	25229078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25229078G>A	ENST00000308873.6	-	5	791	c.783C>T	c.(781-783)agC>agT	p.S261S	RUNX3_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000338888.3_Silent_p.S275S|RUNX3_ENST00000399916.1_Silent_p.S275S|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3			18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)			CTGGGAAGCGGCTCTCCGTGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000308873.6	1	1	hg19	CCDS257.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	0	0	0	71	690	0	113	0	8.879154e-01	0	39	0	113	2		0	0	0	0	0	2	1	1	70	663	0	110	2								-18.557950	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.920000	0.760000	1.000000	0.990000	0.916374	0.920000	1	8.400000e-01	9.800000e-01
MMEL1	79258	broad.mit.edu	37	1	2523018	2523018	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2523018C>T	ENST00000378412.3	-	23	2379	c.2218G>A	c.(2218-2220)Gtc>Atc	p.V740I	MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I|MMEL1_ENST00000288709.6_Missense_Mutation_p.V731I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1			27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)			GGACTGTGGACGTCTGTCTTG	0.617000																								0							SO:0001583	missense			ENST00000378412.3	1	1	hg19	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	9.177	1.022710	0.19433	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.91068	-2.78;-2.78;-2.78	3.87	3.87	0.44632	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.205916	0.42682	D	0.000667	D	0.88753	0.6522	M	0.77313	2.365	0.41580	D	0.988738	P	0.35780	0.52	B	0.30029	0.11	D	0.89714	0.3914	10	0.54805	T	0.06	-42.3512	12.6873	0.56954	0.0:1.0:0.0:0.0	.	740	Q495T6	MMEL1_HUMAN	I	583;731;740;583	ENSP00000288709:V731I;ENSP00000367668:V740I;ENSP00000422492:V583I	ENSP00000288709:V731I	V	-	1	0	MMEL1	2512878	0.992000	0.36948	0.832000	0.32986	0.084000	0.17831	3.089000	0.50183	1.990000	0.58119	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	1	0	0	176	685	0	146	1	1.886566e-01	2	2	0	146	2		0	0	0	0	0	2	1	1	172	642	0	138	2								-20.000000	1	1	121410	8	45	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994003	0.990000	1	9.800000e-01	1
MMEL1	79258	broad.mit.edu	37	1	2524320	2524320	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2524320C>A	ENST00000378412.3	-	20	2114	c.1953G>T	c.(1951-1953)atG>atT	p.M651I	MMEL1_ENST00000502556.1_Missense_Mutation_p.M494I|MMEL1_ENST00000288709.6_Missense_Mutation_p.M642I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1			27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)			ACTGGTAGATCATGCACTCTG	0.607000																								0							SO:0001583	missense			ENST00000378412.3	0	1	hg19	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839532	0.51057	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90133	-2.62;-2.62;-2.62	4.76	4.76	0.60689	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85725	0.5763	N	0.12502	0.225	0.80722	D	1	P	0.37824	0.609	P	0.45881	0.496	D	0.83569	0.0111	10	0.20046	T	0.44	-47.5283	16.4985	0.84251	0.0:1.0:0.0:0.0	.	651	Q495T6	MMEL1_HUMAN	I	494;642;651;494	ENSP00000288709:M642I;ENSP00000367668:M651I;ENSP00000422492:M494I	ENSP00000288709:M642I	M	-	3	0	MMEL1	2514180	1.000000	0.71417	0.998000	0.56505	0.540000	0.34992	5.604000	0.67626	2.460000	0.83146	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	0	0	0	6	305	0	67	0	1.087861e-02	0	7	0	67	2		0	0	0	0	0	2	1	9.632129e-01	6	299	0	66	2								-6.595749	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.210000	0.080000	0.410000	0.200000	0.233204	0.210000	0	1.400000e-01	3.100000e-01
RUNX3	864	broad.mit.edu	37	1	25291031	25291031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25291031G>A	ENST00000338888.3	-	2	277	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RP11-84D1.1_ENST00000456316.1_RNA|RUNX3_ENST00000399916.1_Missense_Mutation_p.P11L			Q13761	RUNX3_HUMAN	runt-related transcription factor 3			18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)			CGAGTAGGTCGGGAAGGAGTC	0.617000																								0							SO:0001583	missense			ENST00000338888.3	0	1	hg19	CCDS30633.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786488	0.49997	.	.	ENSG00000020633	ENST00000399916;ENST00000338888	D;D	0.96745	-4.11;-4.11	5.67	5.67	0.87782	.	0.351698	0.20834	N	0.084826	D	0.93890	0.8045	N	0.11560	0.145	0.80722	D	1	D;B	0.61080	0.989;0.027	P;B	0.53490	0.727;0.01	D	0.94337	0.7567	10	0.51188	T	0.08	-20.3512	15.2825	0.73797	0.0:0.0:1.0:0.0	.	11;11	Q13761-2;B1AJV5	.;.	L	11	ENSP00000382800:P11L;ENSP00000343477:P11L	ENSP00000343477:P11L	P	-	2	0	RUNX3	25163618	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.755000	0.68750	2.677000	0.91161	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	RUNX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009285.1	1	0	1	7	81	0	16	0	3.216271e-01	0	13	0	16	2		0	0	0	0	0	2	1	9.813070e-01	7	80	0	15	2								-3.145677	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.730000	0.360000	0.980000	0.780000	0.721885	0.730000	0	5.300000e-01	9.100000e-01
SYF2	25949	broad.mit.edu	37	1	25549848	25549848	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25549848C>A	ENST00000236273.4	-	7	666	c.641G>T	c.(640-642)aGg>aTg	p.R214M	SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor			6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)			TTTGGCATTCCTTTCATTAAT	0.353000																								0							SO:0001583	missense			ENST00000236273.4	1	1	hg19	CCDS259.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925336	0.52759	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.55052	0.54;0.58	5.56	4.65	0.58169	.	0.130232	0.64402	D	0.000001	T	0.78444	0.4284	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.84341	0.0527	10	0.87932	D	0	-30.8613	13.5045	0.61477	0.0:0.9238:0.0:0.0762	.	214;214	B2RBX8;O95926	.;SYF2_HUMAN	M	214;172	ENSP00000236273:R214M;ENSP00000346330:R172M	ENSP00000236273:R214M	R	-	2	0	SYF2	25422435	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	7.409000	0.80053	1.491000	0.48482	-0.140000	0.14226	AGG		TCGA-IB-7651-01A-11D-2154-08	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	1	0	1	124	415	0	140	1	1	164	332	0	140	2		0	0	0	0	0	2	1	1	120	408	0	140	2								-20.000000	1	1	0	0		1	0	1	1	1.828421	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991595	0.990000	1	9.700000e-01	1
RHD	6007	broad.mit.edu	37	1	25628130	25628130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25628130G>T	ENST00000328664.4	+	5	909	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000357542.4_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S|RHD_ENST00000454452.2_Missense_Mutation_p.A252S	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen			14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)			CGTGGTGACAGCCATCTCAGG	0.547000																								0							SO:0001583	missense			ENST00000328664.4	1	1	hg19	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.848895	0.32699	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	3.8	3.8	0.43715	Ammonium transporter AmtB-like (3);	0.112422	0.64402	D	0.000013	T	0.37128	0.0992	L	0.35723	1.085	0.48901	D	0.999723	D;P;D;P;P;D;P;P	0.69078	0.96;0.828;0.997;0.828;0.928;0.979;0.932;0.72	P;P;D;P;P;P;P;P	0.79108	0.764;0.58;0.992;0.654;0.687;0.87;0.859;0.654	T	0.06516	-1.0822	10	0.39692	T	0.17	-11.8312	11.213	0.48810	0.0:0.0:1.0:0.0	.	252;252;252;252;252;252;252;252	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	S	252	ENSP00000331871:A252S;ENSP00000413849:A252S;ENSP00000339577:A252S;ENSP00000350150:A252S;ENSP00000396420:A252S;ENSP00000399640:A252S	ENSP00000331871:A252S	A	+	1	0	RHD	25500717	1.000000	0.71417	0.479000	0.27329	0.022000	0.10575	2.282000	0.43461	1.671000	0.50874	0.184000	0.17185	GCC		TCGA-IB-7651-01A-11D-2154-08	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	0	0	0	24	843	0	210		0	0	0	0	210	2		0	0	0	0	0	2	1	9.999996e-01	24	835	0	208	2								-3.181709	1	1	0	0		1	1	3	4	2.313613	1	0.170000	2.060000	2.895660e-01	0.380000	0.240000	0.560000	0.390000	0.394301	0.380000	0	3.100000e-01	4.700000e-01
RHCE	6006	broad.mit.edu	37	1	25701914	25701914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25701914C>T	ENST00000349438.4	-	7	963	c.945G>A	c.(943-945)tgG>tgA	p.W315*	RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000425135.1_Nonsense_Mutation_p.W269*|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000349320.3_Missense_Mutation_p.G344D|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000455194.1_Missense_Mutation_p.G255D	NM_138618.3	NP_619524	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens			17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)			GACCTGGAAGCCAATCCTAGA	0.537000																								0							SO:0001587	stop_gained			ENST00000349438.4	0	1	hg19	CCDS30637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.05|11.05	1.523411|1.523411	0.27299|0.27299	.|.	.|.	ENSG00000188672|ENSG00000188672	ENST00000539650;ENST00000455194;ENST00000374352;ENST00000349320;ENST00000527747;ENST00000346452;ENST00000294413|ENST00000425135;ENST00000447203;ENST00000349438	T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;2.45;1.82|.	4.87|4.87	-0.203|-0.203	0.13204|0.13204	Ammonium transporter AmtB-like (3);|.	1.265480|.	0.05264|.	N|.	0.516210|.	T|.	0.48277|.	0.1491|.	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	A|A	1|1	B;B;D|.	0.89917|.	0.08;0.005;1.0|.	B;B;D|.	0.97110|.	0.074;0.005;1.0|.	T|.	0.51655|.	-0.8678|.	9|.	0.28530|0.23891	T|T	0.3|0.37	0.0295|0.0295	5.1073|5.1073	0.14790|0.14790	0.4748:0.395:0.0:0.1302|0.4748:0.395:0.0:0.1302	.|.	344;209;360|.	Q5VSJ9;E7EQ47;P18577|.	.;.;RHCE_HUMAN|.	D|X	289;255;344;344;38;209;360|269;359;315	ENSP00000416275:G255D;ENSP00000363472:G344D;ENSP00000311185:G344D;ENSP00000344485:G209D;ENSP00000294413:G360D|.	ENSP00000294413:G360D|ENSP00000334570:W315X	G|W	-|-	2|3	0|0	RHCE|RHCE	25574501|25574501	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-2.016000|-2.016000	0.01446|0.01446	-0.254000|-0.254000	0.09500|0.09500	-0.158000|-0.158000	0.13435|0.13435	GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	RHCE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000101973.1	0	0	0	55	558	0	142	0	9.765793e-02	1	5	0	142	2		0	0	0	0	0	2	1	1	40	430	0	195	2								-15.152460	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.710000	1.000000	0.950000	0.891752	0.890000	1	8.000000e-01	9.700000e-01
TMEM57	55219	broad.mit.edu	37	1	25784913	25784913	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25784913G>A	ENST00000374343.4	+	6	863	c.684G>A	c.(682-684)tcG>tcA	p.S228S	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57			27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)			TGGATTCTTCGATCCTTATAC	0.403000																								0							SO:0001819	synonymous_variant			ENST00000374343.4	1	1	hg19	CCDS30638.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	1	0	1	157	589	0	165	1	1	29	77	0	165	2		0	0	0	0	0	2	1	1	151	576	0	164	2								-20.000000	1	1	121410	2	41	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	0.990000	0.993252	0.990000	1	9.800000e-01	1
TMEM57	55219	broad.mit.edu	37	1	25815742	25815742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25815742G>A	ENST00000374343.4	+	9	1754	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	TMEM57_ENST00000399763.3_Silent_p.K167K|TMEM57_ENST00000399766.3_Silent_p.K298K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57			27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)			TGGACATGAAGGTGAAAGAAG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000374343.4	1	1	hg19	CCDS30638.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	1	0	1	47	152	0	49	1	1	58	146	0	49	2		0	0	0	0	0	2	1	1	45	148	0	49	2								-4.343800	1	1	121412	2	30	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.974604	0.970000	1	9.400000e-01	1
TMEM57	55219	broad.mit.edu	37	1	25818054	25818054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25818054C>T	ENST00000374343.4	+	10	1950	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W|TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	p.R591W(1)		27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)			CGATGCAAAGCGGCAGCTCGA	0.567000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000374343.4	1	1	hg19	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751209	0.69533	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.84298	-1.83;-1.83;-1.83	5.62	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92567	0.6063	10	0.87932	D	0	-10.8737	13.7887	0.63126	0.5177:0.4823:0.0:0.0	.	233;364;591	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	364;233;591	ENSP00000382668:R364W;ENSP00000382666:R233W;ENSP00000363463:R591W	ENSP00000363463:R591W	R	+	1	2	TMEM57	25690641	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	2.343000	0.44001	0.694000	0.31654	-0.309000	0.09137	CGG		TCGA-IB-7651-01A-11D-2154-08	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	1	0	1	16	190	0	53	1	9.997622e-01	29	142	0	53	2		0	0	0	0	0	2	1	9.999398e-01	16	188	0	53	2								-19.954840	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.770000	0.480000	0.980000	0.800000	0.770504	0.770000	0	6.200000e-01	9.200000e-01
LDLRAP1	26119	broad.mit.edu	37	1	25880492	25880492	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25880492G>A	ENST00000374338.4	+	2	287	c.168G>A	c.(166-168)acG>acA	p.T56T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1			9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)			TGGGCATGACGCTAGTGGAGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000374338.4	1	1	hg19	CCDS30639.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	1	0	1	32	268	0	61	1	9.769443e-01	9	44	0	61	2		0	0	0	0	0	2	1	1	32	262	0	60	2								-20.000000	1	1	121412	1	30	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.710000	1.000000	0.990000	0.907698	0.920000	1	8.200000e-01	9.800000e-01
LDLRAP1	26119	broad.mit.edu	37	1	25893459	25893459	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25893459G>T	ENST00000374338.4	+	9	1022	c.903G>T	c.(901-903)gaG>gaT	p.E301D	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1			9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)			GCGGCACAGAGCAGGATGACC	0.647000																								0							SO:0001583	missense			ENST00000374338.4	1	1	hg19	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591921	0.28357	.	.	ENSG00000157978	ENST00000374338	T	0.56611	0.45	5.54	-1.66	0.08265	.	0.494512	0.22727	N	0.056372	T	0.27559	0.0677	L	0.27053	0.805	0.26597	N	0.973083	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04509	-1.0946	10	0.25106	T	0.35	-20.2171	1.3273	0.02128	0.2906:0.2337:0.3498:0.126	.	301;301	B3KR97;Q5SW96	.;ARH_HUMAN	D	301	ENSP00000363458:E301D	ENSP00000363458:E301D	E	+	3	2	LDLRAP1	25766046	0.200000	0.23398	0.971000	0.41717	0.669000	0.39330	0.247000	0.18179	0.003000	0.14656	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	1	0	1	16	207	0	43	1	9.729805e-01	11	69	0	43	2		0	0	0	0	0	2	1	9.999366e-01	16	204	0	42	2								-19.836770	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.730000	0.450000	0.970000	0.740000	0.737312	0.730000	0	5.800000e-01	8.900000e-01
MAN1C1	57134	broad.mit.edu	37	1	25944734	25944734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25944734G>A	ENST00000374332.4	+	1	776	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1			25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)			AACGCATTCCGGAGCCGTCTC	0.682000																								0							SO:0001583	missense			ENST00000374332.4	0	1	hg19	CCDS265.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.548846	0.45383	.	.	ENSG00000117643	ENST00000374332	D	0.82803	-1.65	4.67	1.77	0.24775	.	0.412918	0.18006	N	0.154739	T	0.63034	0.2477	N	0.12182	0.205	0.80722	D	1	B	0.16802	0.019	B	0.11329	0.006	T	0.43798	-0.9369	10	0.13853	T	0.58	.	6.7426	0.23445	0.2976:0.0:0.7024:0.0	.	149	Q9NR34	MA1C1_HUMAN	Q	149	ENSP00000363452:R149Q	ENSP00000363452:R149Q	R	+	2	0	MAN1C1	25817321	0.967000	0.33354	0.979000	0.43373	0.980000	0.70556	0.812000	0.27211	0.194000	0.20326	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	0	0	0	4	60	0	8	0	3.382728e-01	0	16	0	8	2		0	0	0	0	0	2	1	8.849549e-01	4	58	0	8	2								-8.414053	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.610000	0.220000	0.960000	0.600000	0.616533	0.610000	0	3.900000e-01	8.400000e-01
PAQR7	164091	broad.mit.edu	37	1	26189357	26189357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26189357C>T	ENST00000374296.3	-	2	1640	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII			9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)			GAGGATGCTGCTGCCCACCGT	0.577000													Esophageal Squamous(111;1206 1556 18433 19151 38418)											0							SO:0001583	missense			ENST00000374296.3	1	1	hg19	CCDS267.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155044	0.38021	.	.	ENSG00000182749	ENST00000374296	T	0.22743	1.94	4.81	4.81	0.61882	.	0.057108	0.64402	D	0.000001	T	0.15003	0.0362	N	0.22421	0.69	0.45378	D	0.998368	P	0.44521	0.837	B	0.38106	0.265	T	0.04400	-1.0954	10	0.33141	T	0.24	-17.3312	15.8292	0.78739	0.0:1.0:0.0:0.0	.	325	Q86WK9	MPRA_HUMAN	N	325	ENSP00000363414:S325N	ENSP00000363414:S325N	S	-	2	0	PAQR7	26061944	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.976000	0.76135	2.479000	0.83701	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	1	0	0	79	318	0	97	1	9.999433e-01	12	47	0	97	2		0	0	0	0	0	2	1	1	78	314	0	97	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983597	0.980000	1	9.600000e-01	1
STMN1	3925	broad.mit.edu	37	1	26230290	26230290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26230290C>A	ENST00000399728.1	-	3	391	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|MIR3917_ENST00000580971.1_RNA|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000465604.1_5'UTR	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1			6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)			TTCTCCAGTTCTTTCACCTGG	0.393000																								0							SO:0001587	stop_gained			ENST00000399728.1	0	1	hg19	CCDS269.1	.	.	.	.	.	.	.	.	.	.	C	41	9.112063	0.99069	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291;ENST00000446334	.	.	.	5.72	5.72	0.89469	.	0.104283	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000350531:E10X	E	-	1	0	STMN1	26102877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.762000	0.85270	2.717000	0.92951	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	1	0	0	28	275	0	48	1	9.999936e-01	15	173	0	48	2		0	0	0	0	0	2	1	1	28	269	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.870000	0.640000	1.000000	0.970000	0.865651	0.870000	1	7.500000e-01	9.600000e-01
PAFAH2	5051	broad.mit.edu	37	1	26301000	26301000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301000C>T	ENST00000374282.3	-	9	1079	c.900G>A	c.(898-900)caG>caA	p.Q300Q	PAFAH2_ENST00000374284.1_Silent_p.Q300Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa			9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)			ACTGTTCATGCTGGGCACATA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000374282.3	1	1	hg19	CCDS270.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	1	0	1	29	181	0	43	0	9.897519e-01	0	48	0	43	2		0	0	0	0	0	2	1	1	27	179	0	43	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.770000	1.000000	0.990000	0.934087	0.940000	1	8.700000e-01	9.900000e-01
PAFAH2	5051	broad.mit.edu	37	1	26301077	26301077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301077C>A	ENST00000374282.3	-	9	1002	c.823G>T	c.(823-825)Gga>Tga	p.G275*	PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa			9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)			AACACAGGTCCTCGGGCCTTG	0.468000																								0							SO:0001587	stop_gained			ENST00000374282.3	0	1	hg19	CCDS270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498422	0.97616	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	.	.	.	5.72	5.72	0.89469	.	0.212193	0.34652	N	0.003796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.367	8.43	0.32753	0.0:0.7621:0.1569:0.081	.	.	.	.	X	275	.	ENSP00000363400:G275X	G	-	1	0	PAFAH2	26173664	0.969000	0.33509	1.000000	0.80357	0.983000	0.72400	1.340000	0.33896	2.715000	0.92844	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	1	0	0	18	207	0	40	0	9.619396e-01	1	64	0	40	2		0	0	0	0	0	2	1	9.999841e-01	18	205	0	40	2								-19.999760	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.790000	0.510000	0.990000	0.830000	0.788676	0.790000	0	6.400000e-01	9.300000e-01
PAFAH2	5051	broad.mit.edu	37	1	26308959	26308959	+	Missense_Mutation	SNP	G	G	A	rs148012714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26308959G>A	ENST00000374282.3	-	7	741	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa			9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)			TCGCTTACCCGCTGATGCACC	0.527000																								0							SO:0001583	missense			ENST00000374282.3	1	1	hg19	CCDS270.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352977	0.61293	2.27E-4	0.0	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.69561	-0.41;-0.41	5.63	0.757	0.18427	.	0.000000	0.64402	D	0.000012	T	0.81054	0.4743	M	0.82056	2.57	0.42507	D	0.99295	D	0.89917	1.0	D	0.91635	0.999	D	0.84883	0.0832	10	0.66056	D	0.02	-22.0736	15.874	0.79148	0.0:0.0:0.7012:0.2988	.	188	Q99487	PAFA2_HUMAN	W	188	ENSP00000363400:R188W;ENSP00000363402:R188W	ENSP00000363400:R188W	R	-	1	2	PAFAH2	26181546	0.998000	0.40836	0.991000	0.47740	0.484000	0.33280	0.355000	0.20163	0.565000	0.29255	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	1	0	1	50	140	0	44	1	9.999958e-01	33	24	0	44	2		0	0	0	0	0	2	1	1	50	138	0	43	2								-20.000000	1	1	121412	2	33	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977746	0.980000	1	9.500000e-01	1
EXTL1	2134	broad.mit.edu	37	1	26349754	26349754	+	Missense_Mutation	SNP	C	C	T	rs150568245	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349754C>T	ENST00000374280.3	+	1	1484	c.617C>T	c.(616-618)cCg>cTg	p.P206L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1			23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)			GAAGCCCACCCGTTGCGAGGT	0.682000																								0							SO:0001583	missense			ENST00000374280.3	1	1	hg19	CCDS271.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	27.6	4.849207	0.91277	0.006588	1.16E-4	ENSG00000158008	ENST00000374280	D	0.97665	-4.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.79805	2.47	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	D	0.96055	0.9034	10	0.59425	D	0.04	-13.5266	18.941	0.92605	0.0:1.0:0.0:0.0	.	206	Q92935	EXTL1_HUMAN	L	206	ENSP00000363398:P206L	ENSP00000363398:P206L	P	+	2	0	EXTL1	26222341	1.000000	0.71417	0.968000	0.41197	0.742000	0.42306	5.839000	0.69395	2.802000	0.96397	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	1	0	1	16	127	0	32	0	0	0	1	0	32	2		0	0	0	0	0	2	1	9.999479e-01	16	126	0	32	2								-5.166284	1	1	121264	115	48	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.610000	1.000000	0.990000	0.868387	0.880000	1	7.500000e-01	9.700000e-01
EXTL1	2134	broad.mit.edu	37	1	26349755	26349755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349755G>A	ENST00000374280.3	+	1	1485	c.618G>A	c.(616-618)ccG>ccA	p.P206P	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1			23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)			AAGCCCACCCGTTGCGAGGTG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000374280.3	1	1	hg19	CCDS271.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	1	0	1	31	109	0	32	0	0	0	1	0	32	2		0	0	0	0	0	2	1	1	31	108	0	32	2								-20.000000	1	1	121258	1	26	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.959521	0.960000	1	9.100000e-01	1
EXTL1	2134	broad.mit.edu	37	1	26361822	26361822	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26361822G>T	ENST00000374280.3	+	11	2882	c.2015G>T	c.(2014-2016)aGc>aTc	p.S672I		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1			23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)			AAGTACCGCAGCCTGGAGAAG	0.711000																								0							SO:0001583	missense			ENST00000374280.3	1	1	hg19	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.871983	0.72180	.	.	ENSG00000158008	ENST00000374280	D	0.95238	-3.65	4.67	2.5	0.30297	.	0.777423	0.12720	N	0.444807	D	0.90205	0.6938	L	0.54323	1.7	0.34908	D	0.74717	B	0.34103	0.437	B	0.28916	0.096	D	0.89961	0.4086	10	0.66056	D	0.02	-1.1405	5.0811	0.14656	0.456:0.0:0.544:0.0	.	672	Q92935	EXTL1_HUMAN	I	672	ENSP00000363398:S672I	ENSP00000363398:S672I	S	+	2	0	EXTL1	26234409	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.986000	0.49370	1.074000	0.40909	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	1	0	1	39	180	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	39	178	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.961727	0.960000	1	9.200000e-01	1
CNKSR1	10256	broad.mit.edu	37	1	26510587	26510587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26510587C>T	ENST00000374253.5	+	10	941	c.902C>T	c.(901-903)cCg>cTg	p.P301L	CNKSR1_ENST00000361530.6_Missense_Mutation_p.P294L|CNKSR1_ENST00000531191.1_Missense_Mutation_p.P36L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1			28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)			CTGGACTCCCCGCACCAGAGG	0.617000													NSCLC(180;1396 2109 28270 30756 34275)											0							SO:0001583	missense			ENST00000374253.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	c	10.75	1.437135	0.25900	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.14766	2.51;2.54;2.48	4.39	3.47	0.39725	.	1.563930	0.03774	N	0.260213	T	0.12518	0.0304	L	0.29908	0.895	0.19945	N	0.999943	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.34079	-0.9843	10	0.15499	T	0.54	-1.527	10.9468	0.47306	0.0:0.9031:0.0:0.0969	.	301;294	Q969H4;Q53GM7	CNKR1_HUMAN;.	L	294;301;36	ENSP00000354609:P294L;ENSP00000363371:P301L;ENSP00000431817:P36L	ENSP00000354609:P294L	P	+	2	0	CNKSR1	26383174	0.002000	0.14202	0.003000	0.11579	0.001000	0.01503	1.271000	0.33098	1.150000	0.42419	-0.215000	0.12644	CCG		TCGA-IB-7651-01A-11D-2154-08	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	0	0	0	9	432	0	102	0	4.696546e-01	1	71	0	102	2		0	0	0	0	0	2	1	9.934927e-01	9	419	0	100	2								-2.626180	1	1	121412	12	44	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.220000	0.100000	0.390000	0.220000	0.237622	0.220000	0	1.500000e-01	3.100000e-01
CNKSR1	10256	broad.mit.edu	37	1	26511616	26511616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26511616G>A	ENST00000374253.5	+	14	1307	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	CNKSR1_ENST00000361530.6_Missense_Mutation_p.R416H|CNKSR1_ENST00000531191.1_Missense_Mutation_p.R158H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1			28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)			ATGGGCCCGCGCTGGCGCCGC	0.667000													NSCLC(180;1396 2109 28270 30756 34275)											0							SO:0001583	missense			ENST00000374253.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.77	3.472137	0.63737	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.76186	-1.0;-1.0;-1.0	5.55	3.68	0.42216	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.119683	0.56097	N	0.000035	T	0.75332	0.3835	L	0.60455	1.87	0.40934	D	0.984419	D;D	0.57899	0.96;0.981	P;P	0.54401	0.727;0.751	T	0.76454	-0.2953	10	0.66056	D	0.02	-20.5718	5.6613	0.17670	0.3675:0.0:0.6325:0.0	.	423;416	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	416;423;158	ENSP00000354609:R416H;ENSP00000363371:R423H;ENSP00000431817:R158H	ENSP00000354609:R416H	R	+	2	0	CNKSR1	26384203	1.000000	0.71417	0.994000	0.49952	0.120000	0.20174	6.685000	0.74543	1.344000	0.45657	-0.145000	0.13849	CGC		TCGA-IB-7651-01A-11D-2154-08	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	1	0	0	7	42	0	12	1	7.963665e-01	7	13	0	12	2		0	0	0	0	0	2	1	9.820320e-01	7	41	0	12	2								-4.039104	1	1	117840	3	35	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.850000	0.480000	1.000000	0.990000	0.825463	0.850000	1	6.700000e-01	9.600000e-01
CATSPER4	378807	broad.mit.edu	37	1	26524884	26524884	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26524884C>A	ENST00000456354.2	+	6	853	c.786C>A	c.(784-786)ggC>ggA	p.G262G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4			27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)			CCCAGGACGGCTGGGTGGACA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000456354.2	1	1	hg19	CCDS30645.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	0	0	0	24	661	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	9.999996e-01	24	649	0	114	2								-19.912660	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.370000	0.240000	0.530000	0.370000	0.386150	0.370000	0	3.000000e-01	4.600000e-01
SH3BGRL3	83442	broad.mit.edu	37	1	26607289	26607289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26607289C>A	ENST00000270792.5	+	2	1062	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamate-rich protein like 3					all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			GACCCGAATCCTGGATGGGAA	0.597000																								0							SO:0001583	missense			ENST00000270792.5	1	1	hg19	CCDS278.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253796	0.95336	.	.	ENSG00000142669	ENST00000270792;ENST00000374243;ENST00000319041	D;D	0.90385	-2.66;-2.66	6.08	6.08	0.98989	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	.	.	.	0.48087	D	0.999588	D	0.71674	0.998	D	0.73380	0.98	D	0.95096	0.8226	9	0.62326	D	0.03	-9.1582	20.6634	0.99662	0.0:1.0:0.0:0.0	.	28	Q9H299	SH3L3_HUMAN	M	28;161;28	ENSP00000270792:L28M;ENSP00000363358:L28M	ENSP00000270792:L28M	L	+	1	2	SH3BGRL3	26479876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.019000	0.70818	2.894000	0.99253	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SH3BGRL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009498.1	1	0	1	47	229	0	67	1	1	424	1292	0	67	2		0	0	0	0	0	2	1	1	44	225	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.966688	0.970000	1	9.300000e-01	1
CD52	1043	broad.mit.edu	37	1	26646758	26646758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26646758G>A	ENST00000374213.2	+	2	212	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	UBXN11_ENST00000374222.1_5'Flank|UBXN11_ENST00000374217.2_5'Flank	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule			1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		Alemtuzumab(DB00087)	TTTCTTCGTGGCCAATGCCAT	0.522000																								0							SO:0001583	missense			ENST00000374213.2	0	1	hg19	CCDS30647.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224247	0.39300	.	.	ENSG00000169442	ENST00000374213	T	0.48836	0.8	4.33	-5.08	0.02929	.	1.803160	0.03567	N	0.227998	T	0.31606	0.0802	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.18871	0.023	T	0.27226	-1.0080	9	0.14656	T	0.56	.	14.6165	0.68552	0.2534:0.0:0.7466:0.0	.	51	P31358	CD52_HUMAN	T	51	ENSP00000363330:A51T	ENSP00000363330:A51T	A	+	1	0	CD52	26519345	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.612000	0.05616	-1.066000	0.03164	-0.302000	0.09304	GCC		TCGA-IB-7651-01A-11D-2154-08	CD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009704.1	0	0	0	10	345	0	74	1	9.960213e-01	2	333	0	74	2		0	0	0	0	0	2	1	9.964618e-01	10	334	0	74	2								-2.964296	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.300000	0.150000	0.510000	0.300000	0.322584	0.300000	0	2.200000e-01	4.100000e-01
ZNF683	257101	broad.mit.edu	37	1	26694242	26694242	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26694242C>T	ENST00000436292.1	-	3	281	c.161G>A	c.(160-162)gGc>gAc	p.G54D	ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D|ZNF683_ENST00000403843.1_Missense_Mutation_p.G54D|ZNF683_ENST00000349618.3_Missense_Mutation_p.G54D			Q8IZ20	ZN683_HUMAN	zinc finger protein 683			15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			ACAGGATGGGCCATGAGCATC	0.652000																								0							SO:0001583	missense			ENST00000436292.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.54	2.863087	0.51482	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T	0.20738	3.28;3.28;3.22;3.22;2.39;2.39;2.05;2.06	4.27	2.24	0.28232	.	0.199248	0.25112	N	0.033056	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	P;B	0.36587	0.559;0.423	B;B	0.34931	0.192;0.094	T	0.18398	-1.0338	10	0.21540	T	0.41	-6.8636	5.184	0.15174	0.0:0.667:0.2116:0.1214	.	54;54	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	D	54;54;54;54;62;54;62;54	ENSP00000384782:G54D;ENSP00000388792:G54D;ENSP00000363320:G54D;ENSP00000344095:G54D;ENSP00000411289:G62D;ENSP00000411290:G54D;ENSP00000391584:G62D;ENSP00000401961:G54D	ENSP00000344095:G54D	G	-	2	0	ZNF683	26566829	0.001000	0.12720	0.047000	0.18901	0.678000	0.39670	0.021000	0.13489	0.993000	0.38866	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	0	0	0	6	69	0	15	0	1.662971e-01	0	8	0	15	2		0	0	0	0	0	2	1	9.656407e-01	6	68	0	14	2								-11.087340	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.720000	0.330000	0.980000	0.780000	0.711169	0.720000	0	5.100000e-01	9.000000e-01
DHDDS	79947	broad.mit.edu	37	1	26769270	26769270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26769270G>A	ENST00000236342.7	+	4	322	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T|DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T|DHDDS_ENST00000360009.2_Missense_Mutation_p.A77T|DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase			15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			GACAGTCTACGCATTCAGCAT	0.522000																								0							SO:0001583	missense			ENST00000236342.7	1	1	hg19	CCDS282.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511033	0.96386	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;0.26;-1.39	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.954;0.999;0.987;0.967	D	0.90213	0.4266	10	0.45353	T	0.12	-26.5302	19.3088	0.94175	0.0:0.0:1.0:0.0	.	77;77;77;77	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	T	45;77;77;77;77;77;77;77;77;77;77;77;77	ENSP00000399177:A77T;ENSP00000434984:A77T;ENSP00000236342:A77T;ENSP00000434219:A77T;ENSP00000363300:A77T;ENSP00000353104:A77T;ENSP00000436119:A77T;ENSP00000436764:A77T;ENSP00000434185:A77T;ENSP00000433976:A77T;ENSP00000397584:A77T	ENSP00000236342:A77T	A	+	1	0	DHDDS	26641857	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.762000	0.98944	2.809000	0.96659	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	1	0	1	132	477	0	156	1	1	32	85	0	156	2		0	0	0	0	0	2	1	1	133	467	0	156	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991816	0.990000	1	9.700000e-01	1
ARID1A	8289	broad.mit.edu	37	1	27059196	27059196	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27059196G>T	ENST00000324856.7	+	4	2204	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)		ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			TTGGGTCTCAGGCATCCTCAG	0.473000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0							SO:0001583	missense			ENST00000324856.7	1	1	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332250	0.41297	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02737	4.38;4.18;4.22	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	L	0.57536	1.79	0.80722	D	1	P;D;P	0.54601	0.944;0.967;0.944	P;P;P	0.52217	0.497;0.693;0.497	T	0.04946	-1.0916	10	0.49607	T	0.09	-6.0683	9.9444	0.41600	0.151:0.0:0.849:0.0	.	611;611;265	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	H	611;611;228	ENSP00000320485:Q611H;ENSP00000387636:Q611H;ENSP00000363267:Q228H	ENSP00000320485:Q611H	Q	+	3	2	ARID1A	26931783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.698000	0.47068	2.592000	0.87571	0.491000	0.48974	CAG		TCGA-IB-7651-01A-11D-2154-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1	54	290	0	119	1	9.999804e-01	10	78	0	119	2	1	1	35	340	0	346	2	1	1	52	288	0	119	2								-3.152833	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.968116	0.970000	1	9.300000e-01	1
ARID1A	8289	broad.mit.edu	37	1	27092737	27092737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27092737C>T	ENST00000324856.7	+	9	3129	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)		ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			CAATATGAATCAAGGGGGCAT	0.483000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0							SO:0001587	stop_gained			ENST00000324856.7	0	1	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	42	9.423699	0.99166	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.571	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	920;920;537	.	ENSP00000320485:Q920X	Q	+	1	0	ARID1A	26965324	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.305000	0.65750	2.941000	0.99782	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1	58	203	0	84	1	9.998745e-01	6	44	0	84	2	1	1	198	740	0	959	2	1	1	57	200	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978890	0.980000	1	9.500000e-01	1
ARID1A	8289	broad.mit.edu	37	1	27101019	27101019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27101019C>T	ENST00000324856.7	+	18	4672	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)		ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			TATGGCAATGCCTATCCTGCC	0.617000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0							SO:0001583	missense			ENST00000324856.7	1	1	hg19	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372725	0.61624	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.02863	4.29;4.13	5.54	5.54	0.83059	.	0.194762	0.38605	N	0.001636	T	0.02455	0.0075	N	0.14661	0.345	0.80722	D	1	P;P;B	0.48764	0.822;0.915;0.278	B;B;B	0.35039	0.194;0.164;0.057	T	0.61352	-0.7080	10	0.56958	D	0.05	-4.606	19.6787	0.95950	0.0:1.0:0.0:0.0	.	1051;1434;1087	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	V	1434;1051	ENSP00000320485:A1434V;ENSP00000363267:A1051V	ENSP00000320485:A1434V	A	+	2	0	ARID1A	26973606	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	5.460000	0.66691	2.890000	0.99128	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1	109	382	0	108	1	9.998663e-01	4	44	0	108	2	1	1	59	187	0	243	2	1	1	107	372	0	106	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989834	0.980000	1	9.700000e-01	1
ARID1A	8289	broad.mit.edu	37	1	27105787	27105787	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27105787A>T	ENST00000324856.7	+	20	5769	c.5398A>T	c.(5398-5400)Aat>Tat	p.N1800Y	ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y|ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)		ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			AGCTTCAGAGAATAGTGAGGA	0.433000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0							SO:0001583	missense			ENST00000324856.7	1	1	hg19	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.46|14.46	2.542364|2.542364	0.45280|0.45280	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T|T;T;T;T	0.03607|0.10099	3.87|4.47;4.29;4.29;2.91	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.896432	.|0.10149	.|N	.|0.709919	T|T	0.10423|0.10423	0.0255|0.0255	L|L	0.34521|0.34521	1.04|1.04	0.38307|0.38307	D|D	0.943141|0.943141	.|B;B;B	.|0.31351	.|0.143;0.086;0.32	.|B;B;B	.|0.34931	.|0.048;0.045;0.192	T|T	0.19418|0.19418	-1.0306|-1.0306	7|10	0.87932|0.59425	D|D	0|0.04	-0.7307|-0.7307	6.2998|6.2998	0.21107|0.21107	0.7827:0.0:0.0757:0.1416|0.7827:0.0:0.0757:0.1416	.|.	.|1417;1800;1583	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	V|Y	696|1800;1583;1417;128	ENSP00000390317:E696V|ENSP00000320485:N1800Y;ENSP00000387636:N1583Y;ENSP00000363267:N1417Y;ENSP00000442437:N128Y	ENSP00000390317:E696V|ENSP00000320485:N1800Y	E|N	+|+	2|1	0|0	ARID1A|ARID1A	26978374|26978374	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	3.771000|3.771000	0.55318|0.55318	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	GAA|AAT		TCGA-IB-7651-01A-11D-2154-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	0	34	288	0	80	1	9.974791e-01	6	74	0	80	2	1	1	63	427	0	536	2	1	1	33	286	0	80	2								-20.000000	1	1	121412	2	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.720000	1.000000	0.990000	0.909373	0.920000	1	8.200000e-01	9.800000e-01
FAM46B	115572	broad.mit.edu	37	1	27333276	27333276	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27333276A>G	ENST00000289166.5	-	2	602	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B			10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)			GGCCAGCACCACTGCCTTGGT	0.617000																								0							SO:0001583	missense			ENST00000289166.5	1	1	hg19	CCDS294.2	.	.	.	.	.	.	.	.	.	.	A	8.981	0.975371	0.18736	.	.	ENSG00000158246	ENST00000289166	T	0.24350	1.86	5.33	4.19	0.49359	Domain of unknown function DUF1693 (1);	0.114322	0.64402	D	0.000013	T	0.12220	0.0297	N	0.12746	0.255	0.50171	D	0.999854	B	0.14438	0.01	B	0.25405	0.06	T	0.09952	-1.0651	10	0.07175	T	0.84	-34.6345	8.621	0.33861	0.847:0.0:0.153:0.0	.	146	Q96A09	FA46B_HUMAN	A	146	ENSP00000289166:V146A	ENSP00000289166:V146A	V	-	2	0	FAM46B	27205863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.202000	0.65169	2.232000	0.73038	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	0	0	1	114	417	0	100	1	4.654430e-01	4	3	0	100	2		0	0	0	0	0	2	1	1	113	413	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.990091	0.980000	1	9.700000e-01	1
SLC9A1	6548	broad.mit.edu	37	1	27427125	27427125	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27427125G>T	ENST00000263980.3	-	12	2696	c.2121C>A	c.(2119-2121)gcC>gcA	p.A707A	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Silent_p.A368A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1			27				Amiloride(DB00594)	TCGGCTCATAGGCCAGTGGGT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000263980.3	1	1	hg19	CCDS295.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	1	0	1	106	831	0	166	1	9.999997e-01	20	141	0	166	2		0	0	0	0	0	2	1	1	104	814	0	164	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.968040	0.970000	1	9.300000e-01	1
SLC9A1	6548	broad.mit.edu	37	1	27429187	27429187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27429187G>A	ENST00000263980.3	-	7	2198	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1			27				Amiloride(DB00594)	GGTGGTGACCGTAGTGGCCAC	0.647000											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000263980.3	1	1	hg19	CCDS295.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	1	0	1	13	127	0	44	1	9.999714e-01	22	177	0	44	2		0	0	0	0	0	2	1	9.995798e-01	13	125	0	42	2								-3.319015	1	1	121404	2	24	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.820000	0.510000	0.990000	0.940000	0.812828	0.820000	0	6.700000e-01	9.500000e-01
WDTC1	23038	broad.mit.edu	37	1	27632740	27632740	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27632740C>T	ENST00000319394.3	+	16	2435	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	WDTC1_ENST00000361771.3_Missense_Mutation_p.R633C	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1			21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)			CAACCAGCGGCGCATGAATGC	0.612000																								0							SO:0001583	missense			ENST00000319394.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	32	5.145582	0.94603	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.67698	-0.28;-0.27	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78846	-0.2043	10	0.72032	D	0.01	.	17.3843	0.87412	0.0:1.0:0.0:0.0	.	634;633	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	C	634;633	ENSP00000317971:R634C;ENSP00000355317:R633C	ENSP00000317971:R634C	R	+	1	0	WDTC1	27505327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.654000	0.90174	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	86	317	0	81	1	1	38	79	0	81	2		0	0	0	0	0	2	1	1	86	310	0	80	2								-3.943558	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986034	0.980000	1	9.600000e-01	1
SYTL1	84958	broad.mit.edu	37	1	27677325	27677325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677325G>T	ENST00000543823.1	+	10	1508	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.S337I			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1			12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)			CGCGTGCTGAGCCTGTCTGTG	0.647000																								0							SO:0001583	missense			ENST00000543823.1	1	1	hg19	CCDS53286.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499008|3.499008	0.64298|0.64298	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000496001|ENST00000318074;ENST00000543823;ENST00000485269	.|T;T	.|0.68903	.|-0.36;-0.36	4.49|4.49	3.49|3.49	0.39957|0.39957	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.153666	.|0.64402	.|D	.|0.000020	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.10645|0.10645	0.015|0.015	0.39697|0.39697	D|D	0.971122|0.971122	.|B;B	.|0.26512	.|0.151;0.041	.|B;B	.|0.42087	.|0.375;0.036	T|T	0.55509|0.55509	-0.8130|-0.8130	5|10	.|0.87932	.|D	.|0	-11.2352|-11.2352	4.4517|4.4517	0.11624|0.11624	0.2925:0.0:0.7075:0.0|0.2925:0.0:0.7075:0.0	.|.	.|349;337	.|Q8IYJ3;Q8IYJ3-2	.|SYTL1_HUMAN;.	S|I	197|337;349;102	.|ENSP00000316464:S337I;ENSP00000440704:S349I	.|ENSP00000316464:S337I	A|S	+|+	1|2	0|0	SYTL1|SYTL1	27549912|27549912	0.232000|0.232000	0.23762|0.23762	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.848000|0.848000	0.27710|0.27710	2.337000|2.337000	0.79520|0.79520	0.456000|0.456000	0.33151|0.33151	GCC|AGC		TCGA-IB-7651-01A-11D-2154-08	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	32	274	0	78	1	9.197629e-01	11	28	0	78	2		0	0	0	0	0	2	1	1	32	269	0	77	2								-3.318796	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.700000	1.000000	0.990000	0.903958	0.910000	1	8.100000e-01	9.800000e-01
SYTL1	84958	broad.mit.edu	37	1	27677441	27677441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677441C>T	ENST00000543823.1	+	10	1624	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.R376W			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1			12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)			CCTGCAGCCCCGGGTGAGGCA	0.692000																								0							SO:0001583	missense			ENST00000543823.1	1	1	hg19	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.881040	0.72294	.	.	ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269	T;T	0.08634	3.07;3.07	4.76	4.76	0.60689	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.00473	-1.1718	10	0.87932	D	0	-31.7094	10.4168	0.44327	0.3059:0.6941:0.0:0.0	.	388;376	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	W	376;388;141	ENSP00000316464:R376W;ENSP00000440704:R388W	ENSP00000316464:R376W	R	+	1	2	SYTL1	27550028	0.139000	0.22563	1.000000	0.80357	0.596000	0.36781	0.533000	0.23082	2.487000	0.83934	0.456000	0.33151	CGG		TCGA-IB-7651-01A-11D-2154-08	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	26	214	0	45	1	9.751875e-01	8	44	0	45	2		0	0	0	0	0	2	1	9.999999e-01	26	208	0	45	2								-3.017805	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.680000	1.000000	0.990000	0.897605	0.910000	1	8.000000e-01	9.800000e-01
FCN3	8547	broad.mit.edu	37	1	27697117	27697117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27697117C>T	ENST00000270879.4	-	7	633	c.628G>A	c.(628-630)Gca>Aca	p.A210T	FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3			7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			TTGCCCAGTGCCAGCTGGTAG	0.587000																								0							SO:0001583	missense			ENST00000270879.4	1	1	hg19	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753229	0.15778	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76448	-1.02;-1.02	5.26	2.29	0.28610	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.227220	0.06133	N	0.671032	T	0.48259	0.1490	N	0.01438	-0.865	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.006	T	0.38802	-0.9644	10	0.21014	T	0.42	.	2.1015	0.03681	0.1596:0.5091:0.1551:0.1763	.	199;210	Q6UXM4;O75636	.;FCN3_HUMAN	T	210;199;88	ENSP00000270879:A210T;ENSP00000347077:A199T	ENSP00000270879:A210T	A	-	1	0	FCN3	27569704	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.305000	0.08188	0.295000	0.22570	0.558000	0.71614	GCA		TCGA-IB-7651-01A-11D-2154-08	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1	1	0	1	108	402	0	136	0	9.006309e-01	0	17	0	136	2		0	0	0	0	0	2	1	1	107	398	0	135	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989281	0.980000	1	9.700000e-01	1
GPR3	2827	broad.mit.edu	37	1	27721074	27721074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27721074G>A	ENST00000374024.3	+	2	871	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3			8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)			AGCCTTTGCCGCCTGCTGGTT	0.607000																								0							SO:0001583	missense			ENST00000374024.3	1	1	hg19	CCDS303.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464925	0.43839	.	.	ENSG00000181773	ENST00000374024	T	0.37752	1.18	5.91	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.213027	0.40728	N	0.001024	T	0.33789	0.0875	M	0.72894	2.215	0.37667	D	0.923006	B	0.30439	0.279	B	0.23150	0.044	T	0.33954	-0.9848	10	0.44086	T	0.13	.	8.9616	0.35851	0.0761:0.0:0.7367:0.1872	.	258	P46089	GPR3_HUMAN	T	258	ENSP00000363136:A258T	ENSP00000363136:A258T	A	+	1	0	GPR3	27593661	0.993000	0.37304	0.980000	0.43619	0.990000	0.78478	2.228000	0.42981	2.804000	0.96469	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	1	0	1	77	303	0	85	1	5.739072e-01	3	6	0	85	2		0	0	0	0	0	2	1	1	77	296	0	83	2								-20.000000	1	1	121412	3	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983393	0.980000	1	9.600000e-01	1
WASF2	10163	broad.mit.edu	37	1	27741358	27741358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27741358C>T	ENST00000430629.2	-	6	852	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2			18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			TTGGACTCCACAAATTCTTGC	0.443000																								0							SO:0001583	missense			ENST00000430629.2	1	1	hg19	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407806	0.42715	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.43688	0.94;0.94	5.3	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.79784	0.993;0.437	T	0.44922	-0.9296	10	0.40728	T	0.16	-7.0889	12.7663	0.57393	0.0:0.9206:0.0:0.0793	.	213;213	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	M	213	ENSP00000396211:V213M;ENSP00000439883:V213M	ENSP00000396211:V213M	V	-	1	0	WASF2	27613945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.608000	0.67654	1.484000	0.48361	0.491000	0.48974	GTG		TCGA-IB-7651-01A-11D-2154-08	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	1	0	0	34	587	0	145	1	9.999993e-01	13	361	0	145	2		0	0	0	0	0	2	1	1	32	579	0	143	2								-6.502711	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.580000	0.410000	0.780000	0.580000	0.595192	0.580000	0	4.900000e-01	6.900000e-01
AHDC1	27245	broad.mit.edu	37	1	27876902	27876902	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27876902T>C	ENST00000247087.5	-	5	2321	c.1725A>G	c.(1723-1725)gcA>gcG	p.A575A	AHDC1_ENST00000374011.2_Silent_p.A575A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1			42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			TGGTGGCCGCTGCCACAGTGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000247087.5	1	1	hg19	CCDS30652.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3	1	0	0	59	251	0	42	0	7.374043e-01	1	12	0	42	2		0	0	0	0	0	2	1	1	58	242	0	39	2								-20.000000	1	1	121394	2	30	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.976412	0.970000	1	9.400000e-01	1
AHDC1	27245	broad.mit.edu	37	1	27877908	27877908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27877908G>A	ENST00000247087.5	-	5	1315	c.719C>T	c.(718-720)gCt>gTt	p.A240V	AHDC1_ENST00000374011.2_Missense_Mutation_p.A240V			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1			42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			GTCGGCGTCAGCAAGTTCTGA	0.667000																								0							SO:0001583	missense			ENST00000247087.5	1	1	hg19	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110079	0.77210	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.49139	0.79;0.79	5.16	4.24	0.50183	.	0.000000	0.34314	U	0.004067	T	0.30885	0.0779	N	0.19112	0.55	0.36790	D	0.884808	B	0.26602	0.154	B	0.20955	0.032	T	0.36163	-0.9759	10	0.56958	D	0.05	-6.5369	10.2596	0.43419	0.0938:0.0:0.9062:0.0	.	240	Q5TGY3	AHDC1_HUMAN	V	240	ENSP00000247087:A240V;ENSP00000363123:A240V	ENSP00000247087:A240V	A	-	2	0	AHDC1	27750495	0.998000	0.40836	0.581000	0.28614	0.797000	0.45037	3.824000	0.55723	2.407000	0.81776	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3	1	0	1	53	265	0	48	1	9.333161e-01	2	23	0	48	2		0	0	0	0	0	2	1	1	53	259	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.969759	0.970000	1	9.300000e-01	1
FGR	2268	broad.mit.edu	37	1	27939553	27939553	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27939553A>G	ENST00000374005.3	-	13	1750	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	FGR_ENST00000545953.1_Missense_Mutation_p.Y422H|FGR_ENST00000399173.1_Missense_Mutation_p.Y488H|FGR_ENST00000374004.1_Missense_Mutation_p.Y488H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase			16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			ATGGCCTCGTACAGGGATGCT	0.597000																								0							SO:0001583	missense			ENST00000374005.3	1	1	hg19	CCDS305.1	.	.	.	.	.	.	.	.	.	.	a	0.837	-0.743203	0.03088	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	4.89	3.75	0.43078	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.126247	0.34531	N	0.003890	D	0.84897	0.5574	L	0.55017	1.72	0.29442	N	0.85912	P	0.48294	0.908	P	0.54238	0.746	T	0.77115	-0.2707	10	0.22706	T	0.39	.	7.4482	0.27223	0.8264:0.0:0.1736:0.0	.	488	P09769	FGR_HUMAN	H	488;422;488;488;488	ENSP00000363117:Y488H;ENSP00000445302:Y422H;ENSP00000382126:Y488H;ENSP00000363116:Y488H;ENSP00000363115:Y488H	ENSP00000363115:Y488H	Y	-	1	0	FGR	27812140	1.000000	0.71417	0.324000	0.25361	0.033000	0.12548	6.332000	0.72934	0.807000	0.34208	0.478000	0.44815	TAC		TCGA-IB-7651-01A-11D-2154-08	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	1	0	0	24	264	0	56	0	9.993723e-01	0	130	0	56	2		0	0	0	0	0	2	1	9.999997e-01	24	259	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.820000	0.570000	0.990000	0.870000	0.821058	0.820000	0	6.900000e-01	9.400000e-01
STX12	23673	broad.mit.edu	37	1	28120075	28120075	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28120075G>A	ENST00000373943.4	+	3	345	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12			8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)			AAATCAGCTCGCCAAGGAAAC	0.388000													Ovarian(5;5 342 2097 9488 34083)											0							SO:0001583	missense			ENST00000373943.4	1	1	hg19	CCDS310.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398737	0.96030	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.32272	1.46	5.49	5.49	0.81192	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.86028	2.79	0.44012	D	0.996725	D	0.63046	0.992	D	0.66979	0.948	T	0.65557	-0.6139	10	0.56958	D	0.05	-3.8443	19.3786	0.94521	0.0:0.0:1.0:0.0	.	74	Q86Y82	STX12_HUMAN	T	74	ENSP00000363054:A74T	ENSP00000363054:A74T	A	+	1	0	STX12	27992662	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.327000	0.96396	2.584000	0.87258	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	0	0	0	10	228	0	51	1	9.945375e-01	6	204	0	51	2		0	0	0	0	0	2	1	9.967233e-01	9	224	0	51	2								-3.112579	1	1	121412	2	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.450000	0.230000	0.750000	0.440000	0.472675	0.450000	0	3.300000e-01	6.000000e-01
RPA2	6118	broad.mit.edu	37	1	28218701	28218701	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28218701G>A	ENST00000373912.3	-	9	1085	c.786C>T	c.(784-786)gaC>gaT	p.D262D	RPA2_ENST00000313433.7_Silent_p.D350D|RPA2_ENST00000373909.3_Silent_p.D270D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa			11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)			ATTTAAAATGGTCATCATCCA	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000373912.3	1	1	hg19	CCDS314.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	1	0	1	46	405	0	72	1	1	35	208	0	72	2		0	0	0	0	0	2	1	1	45	399	0	72	2								-15.575740	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.750000	1.000000	0.990000	0.918955	0.920000	1	8.400000e-01	9.800000e-01
XKR8	55113	broad.mit.edu	37	1	28293620	28293620	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28293620A>G	ENST00000373884.5	+	3	1705	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8			4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)			CCAGAGGGGTATCAGCTGCCT	0.587000																								0							SO:0001583	missense			ENST00000373884.5	1	1	hg19	CCDS315.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144827	0.21288	.	.	ENSG00000158156	ENST00000373884	.	.	.	4.86	-4.13	0.03904	.	22.119600	0.00864	U	0.001946	T	0.28433	0.0703	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25537	-1.0129	9	0.44086	T	0.13	.	7.3174	0.26507	0.6509:0.1791:0.17:0.0	.	366	Q9H6D3	XKR8_HUMAN	C	366	.	ENSP00000362991:Y366C	Y	+	2	0	XKR8	28166207	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.918000	0.01574	-0.592000	0.05851	-0.462000	0.05337	TAT		TCGA-IB-7651-01A-11D-2154-08	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	1	0	1	40	362	0	86	1	9.899408e-01	15	52	0	86	2		0	0	0	0	0	2	1	1	38	357	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.906101	0.910000	1	8.200000e-01	9.800000e-01
SESN2	83667	broad.mit.edu	37	1	28601432	28601432	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28601432C>A	ENST00000253063.3	+	8	1438	c.1117C>A	c.(1117-1119)Ctc>Atc	p.L373I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2			27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)			AGCCTATAGCCTCACCTACAA	0.557000																								0							SO:0001583	missense			ENST00000253063.3	0	1	hg19	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671385	0.67814	.	.	ENSG00000130766	ENST00000253063	T	0.39787	1.06	5.18	2.27	0.28462	.	0.067603	0.64402	D	0.000018	T	0.50616	0.1626	M	0.82132	2.575	0.58432	D	0.999999	P	0.51240	0.943	P	0.49421	0.61	T	0.54801	-0.8239	10	0.56958	D	0.05	-16.154	9.5751	0.39452	0.0:0.7637:0.0:0.2363	.	373	P58004	SESN2_HUMAN	I	373	ENSP00000253063:L373I	ENSP00000253063:L373I	L	+	1	0	SESN2	28474019	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.982000	0.49337	0.689000	0.31550	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1	1	0	0	13	306	0	72	1	4.736171e-01	2	35	0	72	2		0	0	0	0	0	2	1	9.995321e-01	13	303	0	72	2								-14.129510	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.430000	0.240000	0.690000	0.430000	0.455089	0.430000	0	3.300000e-01	5.700000e-01
SESN2	83667	broad.mit.edu	37	1	28607282	28607282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28607282C>T	ENST00000253063.3	+	10	1733	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2			27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)			CTGCTGTACGCCCTCCGTGCC	0.617000																								0							SO:0001583	missense			ENST00000253063.3	1	1	hg19	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787552	0.90367	.	.	ENSG00000130766	ENST00000253063	T	0.25414	1.8	4.74	4.74	0.60224	.	0.472269	0.23563	N	0.046836	T	0.43500	0.1250	M	0.73430	2.235	0.52501	D	0.999954	P	0.52170	0.951	P	0.55011	0.766	T	0.41215	-0.9521	10	0.66056	D	0.02	-11.054	12.5017	0.55960	0.0:0.8311:0.1689:0.0	.	471	P58004	SESN2_HUMAN	V	471	ENSP00000253063:A471V	ENSP00000253063:A471V	A	+	2	0	SESN2	28479869	0.997000	0.39634	1.000000	0.80357	0.926000	0.56050	3.541000	0.53618	2.461000	0.83175	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1	1	0	1	36	402	0	105	1	8.582055e-01	7	34	0	105	2		0	0	0	0	0	2	1	1	34	382	0	92	2								-10.762230	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.830000	0.610000	0.990000	0.870000	0.835830	0.830000	0	7.200000e-01	9.400000e-01
PHACTR4	65979	broad.mit.edu	37	1	28800249	28800249	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28800249C>T	ENST00000373839.3	+	7	1268	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	PHACTR4_ENST00000373836.3_Missense_Mutation_p.P346L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4			32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)			GAACTACTACCAATGATCTCA	0.527000																								0							SO:0001583	missense			ENST00000373839.3	0	1	hg19	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.701916	0.00725	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23754	1.92;1.89	5.64	-1.54	0.08584	.	1.460140	0.04085	N	0.310320	T	0.13457	0.0326	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23797	-1.0178	10	0.16420	T	0.52	1.6241	5.8643	0.18767	0.1764:0.5245:0.0:0.299	.	346;336	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	L	336;346;335	ENSP00000362945:P336L;ENSP00000362942:P346L	ENSP00000362942:P346L	P	+	2	0	PHACTR4	28672836	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.057000	0.16193	-0.355000	0.07637	CCA		TCGA-IB-7651-01A-11D-2154-08	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	0	0	0	15	836	0	184	1	2.891862e-01	2	55	0	184	2		0	0	0	0	0	2	1	9.998265e-01	14	805	0	182	2								-2.052085	0	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.190000	0.100000	0.300000	0.190000	0.199597	0.190000	0	1.400000e-01	2.500000e-01
PHACTR4	65979	broad.mit.edu	37	1	28807089	28807089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28807089G>A	ENST00000373839.3	+	9	1994	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q|PHACTR4_ENST00000493669.1_3'UTR|RNU6ATAC27P_ENST00000408289.1_RNA	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4			32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)			AATGAAATACGGCACCAGATT	0.423000																								0							SO:0001583	missense			ENST00000373839.3	1	1	hg19	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775338	0.90108	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.39229	1.11;1.09	5.62	4.71	0.59529	.	0.112912	0.64402	D	0.000010	T	0.65144	0.2663	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.73708	0.966;0.981	T	0.70389	-0.4885	10	0.72032	D	0.01	-4.0794	13.5134	0.61526	0.075:0.0:0.925:0.0	.	588;578	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	Q	578;588;577	ENSP00000362945:R578Q;ENSP00000362942:R588Q	ENSP00000362942:R588Q	R	+	2	0	PHACTR4	28679676	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.913000	0.87471	1.379000	0.46325	-0.234000	0.12200	CGG		TCGA-IB-7651-01A-11D-2154-08	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	1	0	1	67	683	0	210	1	9.870113e-01	7	63	0	210	2		0	0	0	0	0	2	1	1	65	662	0	209	2								-2.841672	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.730000	1.000000	0.950000	0.898586	0.900000	1	8.100000e-01	9.700000e-01
RCC1	1104	broad.mit.edu	37	1	28863294	28863294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28863294C>T	ENST00000373833.6	+	12	1258	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	RCC1_ENST00000373831.3_Missense_Mutation_p.R356W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W			P18754	RCC1_HUMAN	regulator of chromosome condensation 1			14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)			TGAGTATGGGCGGCTGGGCCT	0.612000																								0							SO:0001583	missense			ENST00000373833.6	1	1	hg19	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532939	0.85812	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.8	4.88	0.63580	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95339	0.8436	10	0.87932	D	0	-19.6537	12.7877	0.57516	0.2978:0.7022:0.0:0.0	.	356;342;325	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	W	325;325;325;356;342	ENSP00000381931:R325W;ENSP00000362939:R325W;ENSP00000362938:R325W;ENSP00000362937:R356W;ENSP00000413644:R342W	ENSP00000362937:R356W	R	+	1	2	RCC1	28735881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.097000	0.50251	1.423000	0.47198	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	1	0	1	132	547	0	139	1	1	48	91	0	139	2		0	0	0	0	0	2	1	1	128	539	0	136	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990870	0.980000	1	9.700000e-01	1
TRNAU1AP	54952	broad.mit.edu	37	1	28891240	28891240	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28891240G>T	ENST00000373830.3	+	5	330	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1			8					CTTTGTGGGGGACCTGACCCC	0.512000																								0							SO:0001583	missense			ENST00000373830.3	1	1	hg19	CCDS324.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085489	0.94100	.	.	ENSG00000180098	ENST00000373830	T	0.16457	2.34	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092822	0.64402	D	0.000001	T	0.39253	0.1071	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.03684	-1.1013	10	0.87932	D	0	.	17.0453	0.86500	0.0:0.0:1.0:0.0	.	102	Q9NX07	TSAP1_HUMAN	Y	102	ENSP00000362936:D102Y	ENSP00000362936:D102Y	D	+	1	0	TRNAU1AP	28763827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.383000	0.79741	2.814000	0.96858	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	1	0	1	45	455	0	120	1	9.994132e-01	18	95	0	120	2		0	0	0	0	0	2	1	1	45	451	0	120	2								-13.358800	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.690000	1.000000	0.950000	0.883386	0.890000	1	7.900000e-01	9.700000e-01
GMEB1	10691	broad.mit.edu	37	1	29030754	29030754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29030754G>A	ENST00000294409.2	+	8	901	c.811G>A	c.(811-813)Gag>Aag	p.E271K	GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K|GMEB1_ENST00000373816.1_Missense_Mutation_p.E261K|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1			11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)			GCTGATGGAAGAGGTTGTCTG	0.468000																								0							SO:0001583	missense			ENST00000294409.2	1	1	hg19	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466274	0.84425	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.62498	0.03;0.03;0.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.43152	1.355	0.38376	D	0.944996	D;D	0.61697	0.99;0.99	P;P	0.54629	0.757;0.757	T	0.72427	-0.4297	10	0.62326	D	0.03	-11.8053	19.0481	0.93030	0.0:0.0:1.0:0.0	.	271;261	Q9Y692;B1AT47	GMEB1_HUMAN;.	K	261;237;261;271	ENSP00000362922:E261K;ENSP00000355186:E261K;ENSP00000294409:E271K	ENSP00000294409:E271K	E	+	1	0	GMEB1	28903341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.358000	0.79466	2.808000	0.96608	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	1	0	1	83	340	0	81	1	9.972638e-01	13	26	0	81	2		0	0	0	0	0	2	1	1	81	334	0	80	2								-3.132820	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.984284	0.980000	1	9.600000e-01	1
GMEB1	10691	broad.mit.edu	37	1	29037105	29037105	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29037105A>C	ENST00000294409.2	+	9	1062	c.972A>C	c.(970-972)agA>agC	p.R324S	GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S|GMEB1_ENST00000373816.1_Missense_Mutation_p.R314S|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1			11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)			TAGACAACAGAAGGAACCAAG	0.393000																								0							SO:0001583	missense			ENST00000294409.2	1	1	hg19	CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133479	0.56828	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.58940	0.3;0.3;0.3	5.38	-1.54	0.08584	.	0.049383	0.85682	D	0.000000	T	0.46034	0.1372	L	0.56769	1.78	0.20403	N	0.999907	P;P	0.39480	0.675;0.462	B;B	0.30943	0.122;0.063	T	0.45425	-0.9262	10	0.46703	T	0.11	-27.8777	13.9953	0.64392	0.2001:0.0:0.7999:0.0	.	324;314	Q9Y692;B1AT47	GMEB1_HUMAN;.	S	314;290;314;324	ENSP00000362922:R314S;ENSP00000355186:R314S;ENSP00000294409:R324S	ENSP00000294409:R324S	R	+	3	2	GMEB1	28909692	0.997000	0.39634	0.992000	0.48379	0.998000	0.95712	0.286000	0.18902	-0.280000	0.09154	0.529000	0.55759	AGA		TCGA-IB-7651-01A-11D-2154-08	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	1	0	1	91	364	0	122	1	9.706133e-01	8	17	0	122	2		0	0	0	0	0	2	1	1	90	360	0	121	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986128	0.980000	1	9.600000e-01	1
OPRD1	4985	broad.mit.edu	37	1	29189517	29189517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29189517G>A	ENST00000234961.2	+	3	1083	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1			15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCACATCTTCGTCATCGTCTG	0.662000																								0							SO:0001583	missense			ENST00000234961.2	1	1	hg19	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176654	0.38413	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.36878	1.23	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.135819	0.49916	D	0.000139	T	0.21103	0.0508	N	0.12853	0.265	0.44018	D	0.996737	B	0.19935	0.04	B	0.20184	0.028	T	0.05937	-1.0855	10	0.20046	T	0.44	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	281	P41143	OPRD_HUMAN	I	281;233	ENSP00000234961:V281I	ENSP00000234961:V281I	V	+	1	0	OPRD1	29062104	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.926000	0.70070	2.097000	0.63578	0.462000	0.41574	GTC		TCGA-IB-7651-01A-11D-2154-08	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	1	0	1	25	72	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	1	25	71	0	21	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.954174	0.960000	1	9.000000e-01	9.900000e-01
ACTRT2	140625	broad.mit.edu	37	1	2938529	2938529	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2938529C>A	ENST00000378404.2	+	1	484	c.279C>A	c.(277-279)ctC>ctA	p.L93L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2			26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)			GGAAGCACCTCTTTGAGTGGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000378404.2	1	1	hg19	CCDS45.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	1	0	1	78	370	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1	77	366	0	117	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980856	0.980000	1	9.500000e-01	1
TMEM200B	399474	broad.mit.edu	37	1	29447499	29447499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29447499C>T	ENST00000420504.2	-	2	999	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B			1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)			TGGCCAGCTTCGGTGAGCACA	0.642000																								0							SO:0001583	missense			ENST00000420504.2	1	1	hg19	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916115	0.92178	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	4.26	0.50523	.	0.000000	0.36234	U	0.002718	T	0.54175	0.1842	N	0.19112	0.55	0.35186	D	0.772954	D	0.76494	0.999	P	0.61132	0.884	T	0.68025	-0.5518	9	0.87932	D	0	.	14.3489	0.66685	0.0:1.0:0.0:0.0	.	281	Q69YZ2	T200B_HUMAN	Q	281	.	ENSP00000428544:R281Q	R	-	2	0	TMEM200B	29320086	0.819000	0.29175	1.000000	0.80357	0.989000	0.77384	1.248000	0.32827	2.348000	0.79779	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	1	0	1	29	120	0	36	1	9.999424e-01	13	55	0	36	2		0	0	0	0	0	2	1	1	28	119	0	35	2								-3.592439	1	1	121408	1	26	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.952829	0.960000	1	9.000000e-01	9.900000e-01
PTPRU	10076	broad.mit.edu	37	1	29587277	29587277	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29587277G>A	ENST00000345512.3	+	7	1135	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	PTPRU_ENST00000356870.3_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A336T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U			79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)			TGAGGTGCACGCCGTCAGCCT	0.647000																								0							SO:0001583	missense			ENST00000345512.3	1	1	hg19	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958342	0.73902	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.22	4.25	0.50352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152411	0.42682	D	0.000668	T	0.58921	0.2156	L	0.56769	1.78	0.49051	D	0.999743	D;D;D;D;D	0.63046	0.99;0.99;0.99;0.992;0.992	P;P;P;P;P	0.52343	0.57;0.57;0.57;0.696;0.696	T	0.59878	-0.7371	9	.	.	.	.	14.3429	0.66641	0.0:0.1488:0.8512:0.0	.	336;336;336;336;336	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	336	ENSP00000334941:A336T;ENSP00000362884:A336T;ENSP00000349333:A336T;ENSP00000314987:A336T;ENSP00000392332:A336T;ENSP00000432906:A336T	.	A	+	1	0	PTPRU	29459864	1.000000	0.71417	0.990000	0.47175	0.380000	0.30137	7.926000	0.87569	2.418000	0.82041	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	0	0	0	26	356	0	76	0	6.213759e-01	0	30	0	76	2		0	0	0	0	0	2	1	9.999999e-01	26	351	0	73	2								-3.142723	1	1	121408	3	33	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.710000	0.480000	0.950000	0.720000	0.725899	0.710000	0	5.900000e-01	8.500000e-01
PTPRU	10076	broad.mit.edu	37	1	29609239	29609239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29609239G>T	ENST00000345512.3	+	12	2049	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	PTPRU_ENST00000356870.3_Missense_Mutation_p.E640D|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D|PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000373779.3_Missense_Mutation_p.E640D	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U			79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)			TGCGGCGGGAGCCAGGTGGAC	0.677000																								0							SO:0001583	missense			ENST00000345512.3	1	1	hg19	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257525	0.59321	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.33216	1.46;1.48;1.48;1.48;1.42;1.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.64404	1.975	0.50467	D	0.999876	B;B;B;B;B	0.28933	0.228;0.228;0.228;0.146;0.146	B;B;B;B;B	0.27262	0.078;0.078;0.078;0.036;0.036	T	0.07443	-1.0772	9	.	.	.	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	640;640;640;640;640	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	D	640	ENSP00000334941:E640D;ENSP00000362884:E640D;ENSP00000349333:E640D;ENSP00000314987:E640D;ENSP00000392332:E640D;ENSP00000432906:E640D	.	E	+	3	2	PTPRU	29481826	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.259000	0.51515	2.598000	0.87819	0.549000	0.68633	GAG		TCGA-IB-7651-01A-11D-2154-08	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	1	0	1	39	280	0	47	1	9.555838e-01	6	33	0	47	2		0	0	0	0	0	2	1	1	37	277	0	47	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.937938	0.940000	1	8.700000e-01	9.900000e-01
PTPRU	10076	broad.mit.edu	37	1	29610474	29610474	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29610474G>A	ENST00000345512.3	+	13	2294	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	PTPRU_ENST00000356870.3_Missense_Mutation_p.R722H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R722H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U			79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)			AATTGCATCCGCATTGCCAGG	0.627000																								0							SO:0001583	missense			ENST00000345512.3	1	1	hg19	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545457	0.96488	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.36878	1.23;1.34;1.34;1.34;1.28;1.34	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.998	T	0.65541	-0.6143	9	.	.	.	.	18.351	0.90338	0.0:0.0:1.0:0.0	.	722;722;722;722;722	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	722	ENSP00000334941:R722H;ENSP00000362884:R722H;ENSP00000349333:R722H;ENSP00000314987:R722H;ENSP00000392332:R722H;ENSP00000432906:R722H	.	R	+	2	0	PTPRU	29483061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.022000	0.93678	2.577000	0.86979	0.549000	0.68633	CGC		TCGA-IB-7651-01A-11D-2154-08	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	1	0	1	86	632	0	151	1	9.663337e-01	7	35	0	151	2		0	0	0	0	0	2	1	1	86	625	0	150	2								-3.221883	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.967051	0.970000	1	9.300000e-01	1
PTPRU	10076	broad.mit.edu	37	1	29638197	29638197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29638197G>A	ENST00000345512.3	+	22	3157	c.3028G>A	c.(3028-3030)Ggg>Agg	p.G1010R	PTPRU_ENST00000356870.3_Missense_Mutation_p.G1006R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	p.G1006W(2)|p.G1010W(1)		79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)			AGACACCTACGGGGACATCAA	0.602000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000345512.3	1	1	hg19	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841584	0.91197	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.76181	-0.3053	9	.	.	.	.	17.1105	0.86673	0.0:0.0:1.0:0.0	.	997;1006;1000;1006;1010	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	R	1010;1000;1006;1006;997;1006	ENSP00000334941:G1010R;ENSP00000362884:G1000R;ENSP00000349333:G1006R;ENSP00000314987:G1006R;ENSP00000392332:G997R;ENSP00000432906:G1006R	.	G	+	1	0	PTPRU	29510784	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.652000	0.98499	2.592000	0.87571	0.591000	0.81541	GGG		TCGA-IB-7651-01A-11D-2154-08	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	1	0	1	129	538	0	150	1	9.998178e-01	14	40	0	150	2		0	0	0	0	0	2	1	1	128	532	0	147	2								-2.550887	1	1	121412	2	32	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990553	0.980000	1	9.700000e-01	1
MATN1	4146	broad.mit.edu	37	1	31189685	31189685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31189685C>T	ENST00000373765.4	-	4	777	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	p.A248T(1)		12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)			TCGTGGCAGGCGCAGGTGTAG	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373765.4	1	1	hg19	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238134	0.22711	2.27E-4	0.0	ENSG00000162510	ENST00000373765	D	0.85955	-2.05	5.12	1.76	0.24704	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	.	.	.	.	T	0.67655	0.2916	N	0.05487	-0.04	0.54753	D	0.999981	B;B	0.15930	0.006;0.015	B;B	0.13407	0.009;0.009	T	0.54583	-0.8272	9	0.17369	T	0.5	-18.6134	10.4414	0.44469	0.2488:0.6811:0.0:0.0701	.	232;248	A3KMG0;P21941	.;MATN1_HUMAN	T	248	ENSP00000362870:A248T	ENSP00000362870:A248T	A	-	1	0	MATN1	30962272	0.999000	0.42202	0.813000	0.32504	0.620000	0.37586	4.002000	0.57053	0.530000	0.28619	-0.181000	0.13052	GCC		TCGA-IB-7651-01A-11D-2154-08	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	1	0	1	23	106	0	33	0	0	1	0	0	33	2		0	0	0	0	0	2	1	9.999997e-01	23	105	0	32	2								-15.153880	1	1	121410	2	24	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.770000	1.000000	0.990000	0.937710	0.940000	1	8.700000e-01	9.900000e-01
LAPTM5	7805	broad.mit.edu	37	1	31208047	31208047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31208047C>A	ENST00000294507.3	-	7	746	c.672G>T	c.(670-672)gaG>gaT	p.E224D		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5			10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)			AGTTTCTCTTCTCCTCCACCG	0.537000																								0							SO:0001583	missense			ENST00000294507.3	1	1	hg19	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	7.208	0.594858	0.13875	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.7	0.173	0.15036	.	0.836425	0.10819	N	0.630715	T	0.32071	0.0817	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.23013	-1.0200	10	0.26408	T	0.33	-1.0306	6.6261	0.22830	0.0:0.3532:0.4728:0.1741	.	224	Q13571	LAPM5_HUMAN	D	224	ENSP00000294507:E224D	ENSP00000294507:E224D	E	-	3	2	LAPTM5	30980634	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	0.306000	0.19279	0.321000	0.23259	-0.844000	0.03045	GAG		TCGA-IB-7651-01A-11D-2154-08	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	1	0	0	91	867	0	241	0	1	0	2011	0	241	2		0	0	0	0	0	2	1	1	88	842	0	238	2								-19.999920	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.790000	1.000000	0.990000	0.931758	0.930000	1	8.700000e-01	9.900000e-01
LAPTM5	7805	broad.mit.edu	37	1	31211857	31211857	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31211857C>A	ENST00000294507.3	-	5	514	c.440G>T	c.(439-441)aGc>aTc	p.S147I	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5			10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)			GGTCAGGATGCTCAGGCAGAA	0.542000																								0							SO:0001583	missense			ENST00000294507.3	0	1	hg19	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119689	0.77323	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.58940	0.3	5.73	5.73	0.89815	.	0.053362	0.85682	D	0.000000	T	0.74906	0.3778	M	0.72118	2.19	0.42479	D	0.99285	D	0.89917	1.0	D	0.81914	0.995	T	0.77360	-0.2617	10	0.87932	D	0	-35.521	15.3854	0.74695	0.0:1.0:0.0:0.0	.	147	Q13571	LAPM5_HUMAN	I	147	ENSP00000294507:S147I	ENSP00000294507:S147I	S	-	2	0	LAPTM5	30984444	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.270000	0.58896	2.701000	0.92244	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	0	0	1	6	37	0	15	0	1	1	1983	0	15	2		0	0	0	0	0	2	1	9.663271e-01	6	36	0	15	2								-12.591920	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.830000	0.440000	1.000000	0.990000	0.806859	0.830000	0	6.400000e-01	9.600000e-01
LAPTM5	7805	broad.mit.edu	37	1	31230535	31230535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31230535C>T	ENST00000294507.3	-	1	132	c.58G>A	c.(58-60)Gca>Aca	p.A20T	LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5			10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)			GCGGTGGTTGCGATGCGGACA	0.627000																								0							SO:0001583	missense			ENST00000294507.3	1	1	hg19	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753101	0.89753	0.0	1.16E-4	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.48522	0.81	5.38	5.38	0.77491	.	0.407078	0.25361	N	0.031230	T	0.50820	0.1638	L	0.29908	0.895	0.35481	D	0.798177	D	0.89917	1.0	P	0.56216	0.794	T	0.61377	-0.7075	10	0.66056	D	0.02	-37.7545	14.5121	0.67794	0.0:1.0:0.0:0.0	.	20	Q13571	LAPM5_HUMAN	T	20	ENSP00000294507:A20T	ENSP00000294507:A20T	A	-	1	0	LAPTM5	31003122	0.983000	0.35010	0.963000	0.40424	0.567000	0.35839	3.347000	0.52200	2.793000	0.96121	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	1	0	1	31	147	0	34	0	1	1	1128	0	34	2		0	0	0	0	0	2	1	1	30	142	0	33	2								-3.422693	1	1	121396	1	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.810000	1.000000	0.990000	0.951444	0.960000	1	9.000000e-01	9.900000e-01
SDC3	9672	broad.mit.edu	37	1	31349524	31349524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31349524C>T	ENST00000339394.6	-	3	919	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	SDC3_ENST00000336798.7_Missense_Mutation_p.V191I|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3			21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)			GCTGTGCTGACCAGCCTGGGT	0.706000																								0							SO:0001583	missense			ENST00000339394.6	1	1	hg19	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547782	0.65311	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.26957	1.7;1.72	5.23	5.23	0.72850	.	0.104244	0.40818	N	0.001018	T	0.22627	0.0546	L	0.27053	0.805	0.34526	D	0.7087	P;B	0.34587	0.458;0.284	B;B	0.34824	0.19;0.175	T	0.24764	-1.0151	10	0.44086	T	0.13	-21.7528	18.7907	0.91973	0.0:1.0:0.0:0.0	.	249;191	O75056;D3DPN2	SDC3_HUMAN;.	I	191;249	ENSP00000338346:V191I;ENSP00000344468:V249I	ENSP00000338346:V191I	V	-	1	0	SDC3	31122111	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.012000	0.49575	2.434000	0.82447	0.462000	0.41574	GTC		TCGA-IB-7651-01A-11D-2154-08	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	1	0	1	43	128	0	25	1	1	30	139	0	25	2		0	0	0	0	0	2	1	1	42	126	0	25	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.973143	0.970000	1	9.400000e-01	1
SNRNP40	9410	broad.mit.edu	37	1	31766156	31766156	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31766156G>A	ENST00000263694.4	-	2	199	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	SNRNP40_ENST00000446633.2_Silent_p.L61L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)			7					CCAGAGAGCAGCATGATTGGG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000263694.4	1	1	hg19	CCDS340.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	1	0	1	32	169	0	52	1	9.999999e-01	43	101	0	52	2		0	0	0	0	0	2	1	1	31	168	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.948552	0.950000	1	8.900000e-01	9.900000e-01
SERINC2	347735	broad.mit.edu	37	1	31905859	31905859	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31905859C>T	ENST00000373709.3	+	9	1209	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000536859.1_Silent_p.T357T|SERINC2_ENST00000373710.1_Silent_p.T362T|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2			12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)			TGATGCAGACCGAGGAGTGCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000373709.3	1	1	hg19	CCDS30662.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	1	0	1	14	120	0	29	1	1	197	592	0	29	2		0	0	0	0	0	2	1	9.997626e-01	13	117	0	28	2								-19.963820	1	1	121262	18	40	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.860000	0.560000	1.000000	0.990000	0.845258	0.860000	1	7.100000e-01	9.600000e-01
TINAGL1	64129	broad.mit.edu	37	1	32050933	32050933	+	Missense_Mutation	SNP	G	G	A	rs146987687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32050933G>A	ENST00000271064.7	+	8	1115	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1			18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)			CTACCGCCTCGGCTCCAACGT	0.602000																								0							SO:0001583	missense			ENST00000271064.7	1	1	hg19	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	0.036	-1.304398	0.01353	9.08E-4	0.0	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.86097	-2.07;-2.07	5.31	4.29	0.51040	Peptidase C1A, papain C-terminal (2);	0.229383	0.45361	D	0.000367	T	0.55289	0.1911	N	0.00413	-1.525	0.80722	D	1	B;B	0.20671	0.037;0.047	B;B	0.15052	0.009;0.012	T	0.64347	-0.6429	10	0.02654	T	1	.	15.0297	0.71696	0.0:0.0:0.8029:0.1971	.	316;347	B4DPK6;Q9GZM7	.;TINAL_HUMAN	S	316;347;335	ENSP00000395137:G316S;ENSP00000271064:G347S	ENSP00000271064:G347S	G	+	1	0	TINAGL1	31823520	0.999000	0.42202	0.790000	0.31976	0.009000	0.06853	3.019000	0.49635	2.655000	0.90218	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	1	0	1	143	477	0	115	1	1	245	235	0	115	2		0	0	0	0	0	2	1	1	141	468	0	112	2								-4.432062	1	1	121386	10	43	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	0.990000	0.993004	0.990000	1	9.700000e-01	1
HCRTR1	3061	broad.mit.edu	37	1	32084938	32084938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32084938C>A	ENST00000373706.5	+	1	298	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	HCRTR1_ENST00000403528.2_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1			7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)			TGAGTGGGTCCTCATCGCAGC	0.597000																								0							SO:0001583	missense			ENST00000373706.5	1	1	hg19	CCDS344.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248482	0.80024	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.43294	0.95;0.95;0.95	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000004	T	0.51058	0.1652	L	0.47190	1.495	0.43863	D	0.996469	D;P	0.61697	0.99;0.941	P;P	0.58013	0.831;0.693	T	0.50898	-0.8773	10	0.44086	T	0.13	.	14.47	0.67509	0.0:1.0:0.0:0.0	.	49;49	A6NMV7;O43613	.;OX1R_HUMAN	I	49	ENSP00000384387:L49I;ENSP00000362810:L49I;ENSP00000362809:L49I	ENSP00000362809:L49I	L	+	1	0	HCRTR1	31857525	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.548000	0.53670	2.160000	0.67779	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	1	0	0	81	759	0	171	0	0	0	1	0	171	2		0	0	0	0	0	2	1	1	80	751	0	171	2								-3.142702	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.790000	1.000000	0.990000	0.931415	0.930000	1	8.700000e-01	9.900000e-01
COL16A1	1307	broad.mit.edu	37	1	32133784	32133784	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32133784C>A	ENST00000373672.3	-	51	3801	c.3285G>T	c.(3283-3285)acG>acT	p.T1095T	COL16A1_ENST00000271069.6_Silent_p.T1095T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1			48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)			CTGGGGGGCCCGTGGCACCTG	0.622000													Colon(143;498 1786 21362 25193 36625)											0							SO:0001819	synonymous_variant			ENST00000373672.3	1	1	hg19	CCDS41297.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	1	0	0	27	257	0	79	1	1	3	273	0	79	2		0	0	0	0	0	2	1	1	26	249	0	78	2								-2.716734	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.640000	1.000000	0.990000	0.871398	0.880000	1	7.600000e-01	9.700000e-01
COL16A1	1307	broad.mit.edu	37	1	32138370	32138370	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32138370T>C	ENST00000373672.3	-	45	3447	c.2931A>G	c.(2929-2931)ggA>ggG	p.G977G	COL16A1_ENST00000271069.6_Silent_p.G977G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1			48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)			TGCCCTGGTCTCCCTTCTCTC	0.652000													Colon(143;498 1786 21362 25193 36625)											0							SO:0001819	synonymous_variant			ENST00000373672.3	1	1	hg19	CCDS41297.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	1	0	0	18	308	0	49	0	9.999628e-01	0	297	0	49	2		0	0	0	0	0	2	1	9.999785e-01	18	298	0	49	2								-19.833330	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.580000	0.360000	0.860000	0.580000	0.602837	0.580000	0	4.600000e-01	7.300000e-01
BAI2	576	broad.mit.edu	37	1	32196611	32196611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32196611G>A	ENST00000373658.3	-	29	4511	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A	BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000398538.1_Silent_p.A1378A|BAI2_ENST00000373655.2_Silent_p.A1390A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2			55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)			CTTCAGTGTGGGCCACTGTCT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000373658.3	1	1	hg19	CCDS346.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	0	24	164	0	29	0	4.869627e-02	0	3	0	29	2		0	0	0	0	0	2	1	9.999998e-01	24	162	0	28	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.720000	1.000000	0.990000	0.915449	0.920000	1	8.300000e-01	9.900000e-01
BAI2	576	broad.mit.edu	37	1	32198193	32198193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32198193G>A	ENST00000373658.3	-	27	3986	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000398538.1_Silent_p.C1203C|BAI2_ENST00000373655.2_Silent_p.C1215C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2			55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)			CCCCCATCTGGCACTTCACCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000373658.3	1	1	hg19	CCDS346.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	0	11	131	0	40	0	2.341520e-01	1	10	0	40	2		0	0	0	0	0	2	1	9.983630e-01	11	128	0	40	2								-15.883940	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.750000	0.420000	0.980000	0.790000	0.746441	0.750000	0	5.700000e-01	9.100000e-01
BAI2	576	broad.mit.edu	37	1	32207538	32207538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32207538G>A	ENST00000373658.3	-	9	1789	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2			55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)			CAGGCTCCACGCATTCCATGG	0.642000																								0							SO:0001583	missense			ENST00000373658.3	1	1	hg19	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171248	0.38315	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001572	T	0.49558	0.1564	L	0.39566	1.225	0.09310	N	1	B;P;B;B;B;D;B	0.53885	0.386;0.544;0.334;0.16;0.386;0.963;0.386	B;B;B;B;B;P;B	0.50049	0.104;0.1;0.038;0.028;0.064;0.629;0.104	T	0.41305	-0.9516	10	0.26408	T	0.33	.	11.1636	0.48531	0.0:0.0:0.7045:0.2955	.	416;483;471;125;416;483;483	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	V	431;416;483;483;416;483;483;125;471;421;462	ENSP00000381564:A431V;ENSP00000381555:A416V;ENSP00000362762:A483V;ENSP00000362759:A483V;ENSP00000381550:A416V;ENSP00000257070:A483V;ENSP00000435397:A483V;ENSP00000391071:A125V;ENSP00000381548:A471V;ENSP00000410921:A421V;ENSP00000437219:A462V	ENSP00000257070:A483V	A	-	2	0	BAI2	31980125	0.306000	0.24490	0.009000	0.14445	0.950000	0.60333	2.883000	0.48554	2.457000	0.83068	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	1	67	293	0	97	0	2.387143e-01	0	5	0	97	2		0	0	0	0	0	2	1	1	67	289	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.978975	0.980000	1	9.500000e-01	1
BAI2	576	broad.mit.edu	37	1	32221720	32221720	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32221720C>A	ENST00000373658.3	-	4	1059	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2			55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)			GCAGGAGGGCCTGGAGATGTG	0.701000																								0							SO:0001583	missense			ENST00000373658.3	1	1	hg19	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221614	0.22457	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44881	1.59;1.79;0.96;0.96;1.94;0.91;0.91;0.98;1.56;1.42	5.08	2.03	0.26663	.	0.169510	0.28515	N	0.015080	T	0.27697	0.0681	N	0.14661	0.345	0.19300	N	0.999974	B;D;B;P;P;B	0.58268	0.412;0.982;0.086;0.771;0.606;0.0	B;P;B;B;B;B	0.47162	0.161;0.54;0.015;0.321;0.424;0.0	T	0.08452	-1.0721	10	0.54805	T	0.06	.	7.7798	0.29058	0.0:0.6984:0.1384:0.1632	.	228;240;228;228;240;240	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	C	243;228;240;240;228;240;240;228;233;274	ENSP00000381564:G243C;ENSP00000381555:G228C;ENSP00000362762:G240C;ENSP00000362759:G240C;ENSP00000381550:G228C;ENSP00000257070:G240C;ENSP00000435397:G240C;ENSP00000381548:G228C;ENSP00000410921:G233C;ENSP00000437219:G274C	ENSP00000257070:G240C	G	-	1	0	BAI2	31994307	0.001000	0.12720	0.962000	0.40283	0.928000	0.56348	0.374000	0.20501	1.288000	0.44600	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	0	23	322	0	63	0	2.635790e-02	0	4	0	63	2		0	0	0	0	0	2	1	9.999993e-01	21	316	0	60	2								-2.966679	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.700000	0.460000	0.950000	0.700000	0.711655	0.700000	0	5.700000e-01	8.400000e-01
SPOCD1	90853	broad.mit.edu	37	1	32256723	32256723	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32256723C>A	ENST00000360482.2	-	16	3261	c.3132G>T	c.(3130-3132)gaG>gaT	p.E1044D	SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1			37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)			AGTATCTCTTCTCCACCTTAC	0.602000																								0							SO:0001583	missense			ENST00000360482.2	1	1	hg19	CCDS347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.050524|3.050524	0.55218|0.55218	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231|ENST00000294514	T;T;T;T|.	0.54866|.	0.56;1.01;0.55;1.37|.	4.88|4.88	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.42314|0.42314	0.1197|0.1197	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B|.	0.32101|.	0.356;0.137;0.243|.	B;B;B|.	0.36719|.	0.231;0.049;0.116|.	T|T	0.31779|0.31779	-0.9931|-0.9931	9|6	0.32370|0.87932	T|D	0.25|0	-15.6466|-15.6466	5.119|5.119	0.14851|0.14851	0.0:0.6375:0.1746:0.1879|0.0:0.6375:0.1746:0.1879	.|.	1031;467;1044|.	Q6ZMY3-2;E9PPM7;Q6ZMY3|.	.;.;SPOC1_HUMAN|.	D|I	524;1044;467;1031|329	ENSP00000257100:E524D;ENSP00000353670:E1044D;ENSP00000399778:E467D;ENSP00000435851:E1031D|.	ENSP00000257100:E524D|ENSP00000294514:R329I	E|R	-|-	3|2	2|0	SPOCD1|SPOCD1	32029310|32029310	0.902000|0.902000	0.30710|0.30710	0.498000|0.498000	0.27564|0.27564	0.818000|0.818000	0.46254|0.46254	0.838000|0.838000	0.27572|0.27572	0.294000|0.294000	0.22547|0.22547	-0.175000|-0.175000	0.13238|0.13238	GAG|AGA		TCGA-IB-7651-01A-11D-2154-08	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	1	0	1	15	118	0	35	0	4.200400e-01	0	12	0	35	2		0	0	0	0	0	2	1	9.998925e-01	14	117	0	35	2								-19.999310	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.600000	1.000000	0.990000	0.864566	0.880000	1	7.400000e-01	9.700000e-01
SPOCD1	90853	broad.mit.edu	37	1	32258902	32258902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32258902C>T	ENST00000360482.2	-	13	2791	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1			37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)			CAGCTGTGTCCCGAGACCAGC	0.627000																								0							SO:0001583	missense			ENST00000360482.2	0	1	hg19	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999365	0.93227	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	T;T;T;T	0.73897	-0.79;0.4;-0.75;0.37	5.73	5.73	0.89815	Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	D	0.86669	0.5988	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87606	0.2500	9	0.87932	D	0	-17.4789	15.7793	0.78246	0.0:1.0:0.0:0.0	.	888;324;888	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	R	381;888;248;324;888	ENSP00000257100:G381R;ENSP00000353670:G888R;ENSP00000399778:G324R;ENSP00000435851:G888R	ENSP00000257100:G381R	G	-	1	0	SPOCD1	32031489	0.990000	0.36364	0.965000	0.40720	0.968000	0.65278	4.114000	0.57858	2.882000	0.98803	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	1	0	1	13	61	0	10	0	5.053635e-01	0	9	0	10	2		0	0	0	0	0	2	1	9.996713e-01	13	60	0	8	2								-19.999790	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.660000	1.000000	0.990000	0.899279	0.910000	1	8.000000e-01	9.800000e-01
SPOCD1	90853	broad.mit.edu	37	1	32262200	32262200	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32262200C>T	ENST00000360482.2	-	10	2391	c.2262G>A	c.(2260-2262)gaG>gaA	p.E754E	SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000533231.1_Silent_p.E754E|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1			37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)			ccaccaGATCCTCCAGGGTCA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000360482.2	1	1	hg19	CCDS347.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	0	0	1	50	416	0	87	0	5.298002e-01	0	16	0	87	2		0	0	0	0	0	2	1	1	50	409	0	86	2								-2.841672	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.932557	0.940000	1	8.600000e-01	9.900000e-01
SPOCD1	90853	broad.mit.edu	37	1	32279785	32279785	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32279785C>T	ENST00000360482.2	-	2	1279	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1			37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)			CAGGTGTCAGCGGGGGCAGCG	0.667000																								0							SO:0001583	missense			ENST00000360482.2	0	1	hg19	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803308	0.16397	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.32753	1.93;1.44;1.92	3.31	-6.63	0.01807	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.002	T	0.09314	-1.0680	9	0.25751	T	0.34	10.199	1.901	0.03267	0.4835:0.1905:0.0967:0.2293	.	384;384	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	T	384	ENSP00000353670:A384T;ENSP00000362752:A384T;ENSP00000435851:A384T	ENSP00000353670:A384T	A	-	1	0	SPOCD1	32052372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.614000	0.02057	-3.978000	0.00085	-1.209000	0.01634	GCT		TCGA-IB-7651-01A-11D-2154-08	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	1	0	1	12	76	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.992960e-01	12	75	0	14	2								-19.884500	1	1	121294	2	23	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.600000	1.000000	0.990000	0.871310	0.890000	1	7.500000e-01	9.700000e-01
SPOCD1	90853	broad.mit.edu	37	1	32280525	32280525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32280525C>T	ENST00000360482.2	-	2	539	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1			37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)			AGCAGACCTGCTACAAAGTTT	0.607000																								0							SO:0001583	missense			ENST00000360482.2	1	1	hg19	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191639	0.38707	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.45668	1.19;0.89;1.19	3.57	1.71	0.24356	.	.	.	.	.	T	0.21307	0.0513	N	0.08118	0	0.09310	N	1	P;P	0.40731	0.728;0.608	B;B	0.39217	0.294;0.154	T	0.07693	-1.0759	9	0.48119	T	0.1	-0.0017	5.8672	0.18781	0.0:0.7583:0.0:0.2417	.	137;137	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	N	137	ENSP00000353670:S137N;ENSP00000362752:S137N;ENSP00000435851:S137N	ENSP00000353670:S137N	S	-	2	0	SPOCD1	32053112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.869000	0.04232	0.515000	0.28320	-0.137000	0.14449	AGC		TCGA-IB-7651-01A-11D-2154-08	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	1	0	1	86	561	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1	84	550	0	149	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.973895	0.970000	1	9.400000e-01	1
TMEM39B	55116	broad.mit.edu	37	1	32568053	32568053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32568053C>T	ENST00000336294.5	+	9	1404	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B			11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)			CAAACCCCTGCGGATCCTCAA	0.567000																								0							SO:0001583	missense			ENST00000336294.5	1	1	hg19	CCDS351.2	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902253	0.72754	.	.	ENSG00000121775	ENST00000336294;ENST00000373634	.	.	.	5.75	2.62	0.31277	.	0.054040	0.85682	D	0.000000	T	0.77301	0.4110	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77895	-0.2417	9	0.36615	T	0.2	-26.1014	16.0679	0.80897	0.4354:0.5646:0.0:0.0	.	420;293	Q9GZU3;Q9NW51	TM39B_HUMAN;.	W	420;221	.	ENSP00000338165:R420W	R	+	1	2	TMEM39B	32340640	0.791000	0.28800	1.000000	0.80357	0.987000	0.75469	0.322000	0.19576	0.851000	0.35264	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	1	0	1	80	406	0	98	1	9.999173e-01	14	57	0	98	2		0	0	0	0	0	2	1	1	80	393	0	97	2								-3.233197	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980046	0.980000	1	9.500000e-01	1
KPNA6	23633	broad.mit.edu	37	1	32620216	32620216	+	Missense_Mutation	SNP	A	A	G	rs141995585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32620216A>G	ENST00000373625.3	+	2	125	c.32A>G	c.(31-33)aAt>aGt	p.N11S	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)			2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)			GGGAAAGACAATTATCGAATG	0.448000																								0							SO:0001583	missense			ENST00000373625.3	1	1	hg19	CCDS352.1	.	.	.	.	.	.	.	.	.	.	a	17.36	3.370807	0.61624	0.0	1.16E-4	ENSG00000025800	ENST00000373625;ENST00000537234;ENST00000545542	T;T;T	0.47869	0.83;0.83;0.83	5.5	4.37	0.52481	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.45137	1.4	0.80722	D	1	B;B	0.32693	0.38;0.001	B;B	0.31946	0.138;0.009	T	0.18147	-1.0346	10	0.37606	T	0.19	-12.3149	11.4813	0.50326	0.9293:0.0:0.0707:0.0	.	16;11	F5GYL8;O60684	.;IMA7_HUMAN	S	11;8;16	ENSP00000362728:N11S;ENSP00000444930:N8S;ENSP00000440609:N16S	ENSP00000362728:N11S	N	+	2	0	KPNA6	32392803	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.119000	0.71590	1.030000	0.39839	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	1	0	0	21	267	0	53	1	9.503035e-01	10	56	0	53	2		0	0	0	0	0	2	1	9.999976e-01	21	263	0	53	2								-7.433515	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.750000	0.490000	0.970000	0.760000	0.756241	0.750000	0	6.100000e-01	8.900000e-01
LCK	3932	broad.mit.edu	37	1	32740348	32740348	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32740348G>A	ENST00000336890.5	+	3	254	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	LCK_ENST00000373564.3_Missense_Mutation_p.R39Q|LCK_ENST00000333070.4_Missense_Mutation_p.R39Q	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase			37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)		Dasatinib(DB01254)|Ponatinib(DB08901)	CTGCTCATCCGAAATGGCTCT	0.627000			T	TRB@	T-ALL										Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0							SO:0001583	missense			ENST00000336890.5	1	1	hg19	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106324	0.37145	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.66	4.66	0.58398	.	0.173117	0.31370	N	0.007762	T	0.25269	0.0614	N	0.24115	0.695	0.25230	N	0.989837	B;B;B;P	0.42692	0.154;0.414;0.014;0.787	B;B;B;B	0.26693	0.006;0.057;0.008;0.072	T	0.22521	-1.0214	10	0.10111	T	0.7	.	14.8216	0.70077	0.0:0.0:1.0:0.0	.	83;39;39;39	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	Q	39;39;39;39;39;83;83;39;83;39	ENSP00000337825:R39Q;ENSP00000431517:R39Q;ENSP00000435605:R39Q;ENSP00000434525:R39Q;ENSP00000362663:R39Q;ENSP00000436554:R83Q;ENSP00000362658:R83Q;ENSP00000328213:R39Q;ENSP00000362665:R39Q	ENSP00000328213:R39Q	R	+	2	0	LCK	32512935	0.983000	0.35010	0.663000	0.29738	0.639000	0.38242	3.079000	0.50104	2.597000	0.87782	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	1	0	1	30	245	0	58	0	8.734373e-01	0	32	0	58	2		0	0	0	0	0	2	1	1	30	236	0	56	2								-3.075771	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.710000	1.000000	0.990000	0.907786	0.920000	1	8.200000e-01	9.800000e-01
BSDC1	55108	broad.mit.edu	37	1	32842030	32842030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32842030G>A	ENST00000455895.2	-	9	1022	c.989C>T	c.(988-990)cCc>cTc	p.P330L	BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000341071.7_Missense_Mutation_p.P347L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1			17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)			GTGAATAGGGGGTGAGGGTCC	0.637000																								0							SO:0001583	missense			ENST00000455895.2	1	1	hg19	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	8.042	0.764088	0.15914	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	3.95	0.45737	.	0.522233	0.22742	N	0.056182	T	0.56529	0.1991	L	0.54323	1.7	0.42041	D	0.991071	B;B;B;B;B	0.22003	0.035;0.004;0.02;0.063;0.005	B;B;B;B;B	0.19666	0.026;0.016;0.009;0.026;0.004	T	0.58787	-0.7575	9	0.62326	D	0.03	-7.0418	11.2939	0.49267	0.0866:0.0:0.9134:0.0	.	235;274;347;347;330	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	L	330;269;347;235;274;347;330	.	ENSP00000344816:P347L	P	-	2	0	BSDC1	32614617	0.989000	0.36119	0.908000	0.35775	0.112000	0.19704	4.329000	0.59260	1.372000	0.46190	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	1	0	1	50	516	0	110	1	9.999839e-01	34	132	0	110	2		0	0	0	0	0	2	1	1	47	506	0	108	2								-3.318794	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.690000	1.000000	0.940000	0.881525	0.880000	1	7.900000e-01	9.700000e-01
PRDM16	63976	broad.mit.edu	37	1	3301745	3301745	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3301745C>T	ENST00000270722.5	+	4	517	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000378398.3_Silent_p.F156F|PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000442529.2_Silent_p.F156F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16			59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)			GTGAGAAGTTCTGCGTGGATG	0.597000			T	EVI1	MDS, AML										Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0							SO:0001819	synonymous_variant			ENST00000270722.5	1	1	hg19	CCDS41236.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	1	0	0	105	457	0	119	1	6.854696e-01	8	4	0	119	2		0	0	0	0	0	2	1	1	103	453	0	120	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.987414	0.980000	1	9.600000e-01	1
ZBTB8A	653121	broad.mit.edu	37	1	33058584	33058584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33058584C>T	ENST00000373510.4	+	3	281	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A			7					GAACGAGCAGCGCAGGCAAGA	0.418000																								0							SO:0001583	missense			ENST00000373510.4	1	1	hg19	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107142	0.77096	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.73152	-0.72;-0.72	5.32	5.32	0.75619	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	D	0.88217	0.6377	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90743	0.4651	10	0.87932	D	0	-12.0923	18.3637	0.90384	0.0:1.0:0.0:0.0	.	18;18	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	C	18	ENSP00000362609:R18C;ENSP00000317561:R18C	ENSP00000317561:R18C	R	+	1	0	ZBTB8A	32831171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.560000	0.67332	2.651000	0.90000	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	1	0	1	26	157	0	38	1	9.059224e-01	3	24	0	38	2		0	0	0	0	0	2	1	9.999999e-01	26	155	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.760000	1.000000	0.990000	0.930333	0.940000	1	8.600000e-01	9.900000e-01
KIAA1522	57648	broad.mit.edu	37	1	33233558	33233558	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33233558G>T	ENST00000373480.1	+	2	332	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KIAA1522_ENST00000401073.2_Splice_Site_p.E136*|KIAA1522_ENST00000373481.3_Splice_Site_p.E88*|KIAA1522_ENST00000294521.3_Splice_Site_p.E77*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522			24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			ACAACACCAAGGTAAGCTtcc	0.612000																								0							SO:0001630	splice_region_variant			ENST00000373480.1	0	1	hg19	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826624	0.71143	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	.	.	.	5.03	4.12	0.48240	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.3583	13.3902	0.60821	0.0776:0.0:0.9224:0.0	.	.	.	.	X	136;88;77;77	.	ENSP00000294521:E77X	E	+	1	0	KIAA1522	33006145	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.778000	0.91785	1.269000	0.44280	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1	0	0	0	20	385	0	97	1	9.977435e-01	3	185	0	97	2		0	0	0	0	0	2	1	9.999950e-01	20	380	0	96	2								-19.959200	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.520000	0.330000	0.770000	0.520000	0.541876	0.520000	0	4.200000e-01	6.500000e-01
KIAA1522	57648	broad.mit.edu	37	1	33235788	33235788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33235788G>A	ENST00000373480.1	+	6	934	c.831G>A	c.(829-831)gaG>gaA	p.E277E	KIAA1522_ENST00000401073.2_Silent_p.E336E|KIAA1522_ENST00000373481.3_Silent_p.E288E|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522			24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			GGCCTGCAGAGCCCCTGAGCC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000373480.1	1	1	hg19	CCDS55588.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1	1	0	0	47	412	0	78	1	9.999758e-01	38	99	0	78	2		0	0	0	0	0	2	1	1	47	405	0	76	2								-20.000000	1	1	120674	1	30	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.750000	1.000000	0.990000	0.920858	0.930000	1	8.400000e-01	9.800000e-01
KIAA1522	57648	broad.mit.edu	37	1	33236217	33236217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33236217G>A	ENST00000373480.1	+	6	1363	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	KIAA1522_ENST00000401073.2_Silent_p.R479R|KIAA1522_ENST00000373481.3_Silent_p.R431R|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522			24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			TCAGCATTCGGAGCAGTGGGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000373480.1	1	1	hg19	CCDS55588.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1	1	0	1	14	130	0	32	1	9.999228e-01	38	125	0	32	2		0	0	0	0	0	2	1	9.997609e-01	13	127	0	32	2								-19.883780	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.540000	0.990000	0.990000	0.829915	0.840000	0	6.900000e-01	9.600000e-01
TMEM54	113452	broad.mit.edu	37	1	33360427	33360427	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33360427G>T	ENST00000373463.3	-	6	767	c.648C>A	c.(646-648)agC>agA	p.S216R	TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R|TMEM54_ENST00000475208.1_5'Flank	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54			6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)			GAGGCTCAGAGCTGGTGCAGC	0.627000																								0							SO:0001583	missense			ENST00000373463.3	1	0	hg19	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693879	0.30052	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T	0.49139	0.79	4.83	0.694	0.18062	.	0.992833	0.08193	N	0.983470	T	0.37785	0.1016	N	0.08118	0	0.09310	N	1	D;B;D	0.76494	0.999;0.001;0.998	D;B;D	0.83275	0.996;0.002;0.991	T	0.34054	-0.9844	10	0.02654	T	1	.	4.139	0.10184	0.2911:0.1732:0.5357:0.0	.	196;163;216	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	R	216;163	ENSP00000362562:S216R	ENSP00000328630:S163R	S	-	3	2	TMEM54	33133014	0.000000	0.05858	0.010000	0.14722	0.208000	0.24298	0.445000	0.21677	0.188000	0.20168	-0.142000	0.14014	AGC		TCGA-IB-7651-01A-11D-2154-08	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	1	0	1	82	318	0	90	1	1	198	212	0	90	2		0	0	0	0	0	2	1	1	80	312	0	89	2								-2.605546	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.984707	0.980000	1	9.600000e-01	1
RNF19B	127544	broad.mit.edu	37	1	33407890	33407890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33407890C>A	ENST00000373456.7	-	7	1575	c.1576G>T	c.(1576-1578)Ggc>Tgc	p.G526C	RNF19B_ENST00000235150.4_Missense_Mutation_p.G525C|RNF19B_ENST00000356990.5_Missense_Mutation_p.G525C	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B			13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)			AGAATGCCGCCACTCAGCGTG	0.458000																								0							SO:0001583	missense			ENST00000373456.7	0	1	hg19	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076134	0.55646	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.53640	0.61;0.82;0.62	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.67869	0.2939	M	0.64170	1.965	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.962;0.976	T	0.70160	-0.4948	10	0.66056	D	0.02	.	18.9322	0.92571	0.0:1.0:0.0:0.0	.	525;526;525	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	C	526;525;525;424	ENSP00000362555:G526C;ENSP00000349482:G525C;ENSP00000235150:G525C	ENSP00000235150:G525C	G	-	1	0	RNF19B	33180477	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	2.780000	0.47742	2.538000	0.85594	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	0	0	0	9	517	0	105	1	8.773270e-01	7	210	0	105	2		0	0	0	0	0	2	1	9.938238e-01	9	508	0	105	2								-3.037809	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.180000	0.090000	0.330000	0.180000	0.200093	0.180000	0	1.300000e-01	2.600000e-01
RNF19B	127544	broad.mit.edu	37	1	33412058	33412058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33412058G>T	ENST00000373456.7	-	4	1093	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D	RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D|RNF19B_ENST00000356990.5_Missense_Mutation_p.A364D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B			13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)			GGCAATGCCAGCAATGAGAGA	0.473000																								0							SO:0001583	missense			ENST00000373456.7	1	1	hg19	CCDS372.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517053	0.85495	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.39056	1.1;1.18;1.11	5.5	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.81942	2.565	0.80722	D	1	D;B;D	0.89917	1.0;0.125;1.0	D;B;D	0.91635	0.999;0.028;0.999	T	0.73560	-0.3944	10	0.87932	D	0	.	16.1114	0.81266	0.0:0.0:0.8652:0.1348	.	364;365;364	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	D	365;364;364;263	ENSP00000362555:A365D;ENSP00000349482:A364D;ENSP00000235150:A364D	ENSP00000235150:A364D	A	-	2	0	RNF19B	33184645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.781000	0.99029	1.456000	0.47831	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	1	0	1	33	126	0	32	1	1	57	116	0	32	2		0	0	0	0	0	2	1	1	32	124	0	32	2								-19.994370	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.960230	0.960000	1	9.100000e-01	1
AK2	204	broad.mit.edu	37	1	33487216	33487216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33487216C>T	ENST00000487289.1	-	3	323	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|AK2_ENST00000373449.2_Missense_Mutation_p.R103Q|AK2_ENST00000467905.1_Missense_Mutation_p.R103Q					adenylate kinase 2			8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			CCTCACAGTCCGAGGGAAGCC	0.423000																								0							SO:0001583	missense			ENST00000487289.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	25.8	4.676763	0.88445	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	H	0.99967	5.1	0.80722	D	1	B;B;B;B	0.34255	0.15;0.018;0.445;0.15	B;B;B;B	0.40009	0.084;0.01;0.316;0.084	D	0.95841	0.8866	10	0.72032	D	0.01	-11.1021	20.1745	0.98175	0.0:1.0:0.0:0.0	.	103;61;103;103	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	Q	103;61;103;103;103;103;103	ENSP00000362548:R103Q;ENSP00000449003:R61Q;ENSP00000447082:R103Q;ENSP00000450109:R103Q;ENSP00000346921:R103Q;ENSP00000446849:R103Q	ENSP00000346921:R103Q	R	-	2	0	AK2	33259803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.695000	0.68279	2.941000	0.99782	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	0	0	1	57	230	0	50	1	1	102	151	0	50	2		0	0	0	0	0	2	1	1	53	223	0	51	2								-3.180505	1	1	121412	2	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.976454	0.970000	1	9.400000e-01	1
TRIM62	55223	broad.mit.edu	37	1	33625357	33625357	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33625357G>A	ENST00000291416.5	-	3	926	c.693C>T	c.(691-693)atC>atT	p.I231I	TRIM62_ENST00000543586.1_Silent_p.I110I|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62			15		Myeloproliferative disorder(586;0.0393)			GCTCCTGCAGGATCTGGGCTC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000291416.5	1	1	hg19	CCDS376.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	0	0	0	11	378	0	76	0	1.918275e-01	1	25	0	76	2		0	0	0	0	0	2	1	9.982916e-01	11	374	0	75	2								-10.805780	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.300000	0.160000	0.510000	0.300000	0.322099	0.300000	0	2.200000e-01	4.100000e-01
PHC2	1912	broad.mit.edu	37	1	33794638	33794638	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33794638G>T	ENST00000257118.5	-	13	2308	c.2255C>A	c.(2254-2256)cCc>cAc	p.P752H	RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000373422.3_Missense_Mutation_p.P358H|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H|PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)			31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)			GGCTGAGATGGGTGACAAGGG	0.587000																								0							SO:0001583	missense			ENST00000257118.5	1	1	hg19	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852429	0.91355	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.55413	1.52;1.07;0.52;1.5	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.995;0.995;0.995;0.999	P;P;P;D	0.66497	0.816;0.816;0.816;0.944	T	0.69525	-0.5122	10	0.66056	D	0.02	-19.8649	17.6713	0.88218	0.0:0.0:1.0:0.0	.	753;724;752;167	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	H	723;752;358;217;329;753;217	ENSP00000389436:P723H;ENSP00000257118:P752H;ENSP00000362521:P358H;ENSP00000391440:P753H	ENSP00000257118:P752H	P	-	2	0	PHC2	33567225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.128000	0.94424	2.771000	0.95319	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	1	0	1	45	465	0	113	1	1	90	722	0	113	2		0	0	0	0	0	2	1	1	44	455	0	113	2								-3.075755	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.680000	1.000000	0.930000	0.876129	0.880000	1	7.800000e-01	9.600000e-01
PHC2	1912	broad.mit.edu	37	1	33797020	33797020	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33797020G>T	ENST00000257118.5	-	11	1985	c.1932C>A	c.(1930-1932)ctC>ctA	p.L644L	MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000373422.3_Silent_p.L250L|PHC2_ENST00000431992.1_Silent_p.L615L|PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000419414.2_Silent_p.L645L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)			31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)			CCCGGCCACAGAGCTCACACT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000257118.5	1	1	hg19	CCDS378.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	1	0	1	62	578	0	156	1	1	52	506	0	156	2		0	0	0	0	0	2	1	1	61	561	0	154	2								-17.667100	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.760000	1.000000	0.990000	0.921289	0.920000	1	8.500000e-01	9.800000e-01
ARHGEF16	27237	broad.mit.edu	37	1	3394527	3394527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3394527C>T	ENST00000378378.4	+	11	1967	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16			7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)			CGAAAAATTGCCAGCCGGCCA	0.577000																								0							SO:0001583	missense			ENST00000378378.4	1	1	hg19	CCDS46.2	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705645	0.15172	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.58	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.418477	0.26859	N	0.022136	T	0.67581	0.2908	L	0.50333	1.59	0.32814	D	0.501823	B;B	0.29805	0.257;0.257	B;B	0.36030	0.216;0.216	T	0.67031	-0.5773	10	0.13470	T	0.59	-18.3756	9.7142	0.40265	0.0:0.7839:0.1422:0.0738	.	225;521	B4DJM7;Q5VV41	.;ARHGG_HUMAN	V	521;233;233;225	ENSP00000367629:A521V;ENSP00000367624:A233V;ENSP00000367622:A233V;ENSP00000408887:A225V	ENSP00000367622:A233V	A	+	2	0	ARHGEF16	3384387	0.969000	0.33509	0.568000	0.28447	0.145000	0.21501	2.238000	0.43070	1.294000	0.44707	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	1	0	1	42	474	0	98	1	9.998515e-01	37	111	0	98	2		0	0	0	0	0	2	1	1	40	465	0	97	2								-11.127350	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.840000	0.630000	0.990000	0.860000	0.837718	0.840000	0	7.300000e-01	9.400000e-01
ZSCAN20	7579	broad.mit.edu	37	1	33960721	33960721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960721C>T	ENST00000361328.3	+	8	2930	c.2777C>T	c.(2776-2778)aCt>aTt	p.T926I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20			31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)			CGCACCCACACTGGAGAGAAG	0.527000																								0							SO:0001583	missense			ENST00000361328.3	1	1	hg19	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242495	0.79912	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.196572	0.36066	N	0.002802	T	0.79604	0.4474	M	0.75777	2.31	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.81172	-0.1054	9	0.72032	D	0.01	-16.54	17.2441	0.87022	0.0:1.0:0.0:0.0	.	925;926	P17040-3;P17040	.;ZSC20_HUMAN	I	926;860;860	.	ENSP00000324450:T926I	T	+	2	0	ZSCAN20	33733308	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	6.085000	0.71343	2.648000	0.89879	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	1	0	1	44	387	0	95	1	3.191662e-01	2	9	0	95	2		0	0	0	0	0	2	1	1	44	378	0	91	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.740000	1.000000	0.990000	0.916855	0.920000	1	8.400000e-01	9.800000e-01
ZSCAN20	7579	broad.mit.edu	37	1	33960823	33960823	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960823A>C	ENST00000361328.3	+	8	3032	c.2879A>C	c.(2878-2880)aAa>aCa	p.K960T		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20			31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)			AAGCCCTACAAATGCCTTGAG	0.502000																								0							SO:0001583	missense			ENST00000361328.3	1	1	hg19	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973625	0.34848	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	2.06	0.26882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184247	0.38058	N	0.001840	T	0.29061	0.0722	L	0.35593	1.075	0.09310	N	1	B;B	0.30193	0.178;0.272	B;B	0.33339	0.062;0.162	T	0.22243	-1.0222	9	0.72032	D	0.01	-3.6351	4.805	0.13316	0.6102:0.1497:0.24:0.0	.	959;960	P17040-3;P17040	.;ZSC20_HUMAN	T	960;894;894	.	ENSP00000324450:K960T	K	+	2	0	ZSCAN20	33733410	0.000000	0.05858	0.960000	0.40013	0.986000	0.74619	-0.041000	0.12084	0.092000	0.17331	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	1	0	1	33	293	0	69	0	2.386721e-01	1	8	0	69	2		0	0	0	0	0	2	1	1	33	286	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.700000	1.000000	0.990000	0.899049	0.910000	1	8.100000e-01	9.800000e-01
CSMD2	114784	broad.mit.edu	37	1	34123589	34123589	+	Silent	SNP	G	G	A	rs146442508	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34123589G>A	ENST00000373380.1	-	6	1243	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.I1468I			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2			246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)			ACCTGTTCTCGATCTTCACAC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000373380.1	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	1	0	1	95	356	0	114	0	2.000030e-01	0	4	0	114	2		0	0	0	0	0	2	1	1	94	350	0	113	2								-3.884438	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.987435	0.980000	1	9.600000e-01	1
MEGF6	1953	broad.mit.edu	37	1	3413807	3413807	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3413807G>T	ENST00000356575.4	-	27	3697	c.3471C>A	c.(3469-3471)ggC>ggA	p.G1157G	MEGF6_ENST00000294599.4_Silent_p.G966G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6			19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)			CCTGCTCGCAGCCGGAGCCAG	0.721000													Ovarian(73;978 3658)											0							SO:0001819	synonymous_variant			ENST00000356575.4	1	1	hg19	CCDS41237.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	1	0	1	44	172	0	26	1	9.958276e-01	10	26	0	26	2		0	0	0	0	0	2	1	1	43	169	0	25	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.969763	0.970000	1	9.300000e-01	1
MEGF6	1953	broad.mit.edu	37	1	3432077	3432077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3432077C>T	ENST00000356575.4	-	6	845	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6			19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)			TTGCCCAGGGCGCAGGAGTTA	0.662000													Ovarian(73;978 3658)											0							SO:0001583	missense			ENST00000356575.4	1	1	hg19	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	2.851	-0.238359	0.05944	4.73E-4	0.001418	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.96396	-4.0;-4.0	4.22	-1.12	0.09808	Epidermal growth factor-like (1);	0.348665	0.29745	N	0.011315	D	0.91546	0.7330	M	0.66378	2.025	0.09310	N	0.999997	B;B	0.27559	0.181;0.02	B;B	0.16722	0.016;0.016	T	0.79650	-0.1715	10	0.15066	T	0.55	-7.6117	3.9544	0.09383	0.2661:0.3986:0.0:0.3353	.	207;102	O75095;O75095-2	MEGF6_HUMAN;.	T	102;207	ENSP00000294599:A102T;ENSP00000348982:A207T	ENSP00000294599:A102T	A	-	1	0	MEGF6	3421937	0.000000	0.05858	0.140000	0.22221	0.415000	0.31203	-1.955000	0.01523	-0.075000	0.12798	-0.311000	0.09066	GCC		TCGA-IB-7651-01A-11D-2154-08	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	1	0	1	42	204	0	53	1	9.999960e-01	14	80	0	53	2		0	0	0	0	0	2	1	1	42	202	0	53	2								-3.944327	1	1	120610	69	48	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.962895	0.960000	1	9.200000e-01	1
C1orf94	84970	broad.mit.edu	37	1	34663476	34663476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34663476C>T	ENST00000488417.1	+	2	1091	c.971C>T	c.(970-972)cCc>cTc	p.P324L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94			32		Myeloproliferative disorder(586;0.0393)			TGTTCCAAGCCCAAGGCTGAC	0.617000																								0							SO:0001583	missense			ENST00000488417.1	1	1	hg19	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362091	0.41902	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.28454	1.61;1.61	4.78	4.78	0.61160	.	0.347910	0.24947	N	0.034333	T	0.31231	0.0790	L	0.52573	1.65	0.40830	D	0.983584	P	0.36909	0.573	B	0.37780	0.258	T	0.20874	-1.0262	10	0.59425	D	0.04	-9.4525	13.2926	0.60278	0.0:1.0:0.0:0.0	.	324	Q6P1W5	CA094_HUMAN	L	134;324	ENSP00000362472:P134L;ENSP00000435634:P324L	ENSP00000362472:P134L	P	+	2	0	C1orf94	34436063	0.037000	0.19845	0.941000	0.38009	0.684000	0.39900	1.286000	0.33273	2.194000	0.70268	0.557000	0.71058	CCC		TCGA-IB-7651-01A-11D-2154-08	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	1	0	0	16	182	0	59	0	4.015546e-02	0	4	0	59	2		0	0	0	0	0	2	1	9.999402e-01	15	181	0	59	2								-19.978980	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.790000	0.490000	0.990000	0.830000	0.785267	0.790000	0	6.400000e-01	9.300000e-01
C1orf94	84970	broad.mit.edu	37	1	34666546	34666546	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34666546C>A	ENST00000488417.1	+	3	1303	c.1183C>A	c.(1183-1185)Ctc>Atc	p.L395I	C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94			32		Myeloproliferative disorder(586;0.0393)			GAAGAACTTGCTCTATGAGTT	0.577000																								0							SO:0001583	missense			ENST00000488417.1	1	1	hg19	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833400	0.32421	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.36157	1.27;1.27	5.73	3.63	0.41609	.	0.266792	0.26776	N	0.022549	T	0.38746	0.1052	L	0.58101	1.795	0.29571	N	0.84988	P	0.45957	0.869	P	0.47645	0.553	T	0.34850	-0.9812	10	0.51188	T	0.08	-15.6548	7.4085	0.27004	0.0:0.7679:0.0:0.2321	.	395	Q6P1W5	CA094_HUMAN	I	205;395	ENSP00000362472:L205I;ENSP00000435634:L395I	ENSP00000362472:L205I	L	+	1	0	C1orf94	34439133	0.996000	0.38824	0.999000	0.59377	0.134000	0.20937	0.660000	0.25009	0.583000	0.29574	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	1	0	1	37	151	0	36	0	2.637653e-01	0	5	0	36	2		0	0	0	0	0	2	1	1	35	148	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.963015	0.960000	1	9.200000e-01	1
GJB5	2709	broad.mit.edu	37	1	35223537	35223537	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35223537C>T	ENST00000338513.1	+	2	779	c.606C>T	c.(604-606)ctC>ctT	p.L202L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa			10		Myeloproliferative disorder(586;0.0393)			TGCTCAACCTCGTGGAGCTCA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000338513.1	1	1	hg19	CCDS382.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	1	0	1	64	238	0	68	1	9.602200e-01	18	4	0	68	2		0	0	0	0	0	2	1	1	63	230	0	66	2								-3.466956	1	1	121412	32	46	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980346	0.980000	1	9.500000e-01	1
GJA4	2701	broad.mit.edu	37	1	35260722	35260722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35260722C>T	ENST00000342280.4	+	2	996	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa			14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)			CTGGCGTCTTCCAGGCCCCCT	0.602000																								0							SO:0001583	missense			ENST00000342280.4	1	1	hg19	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657035	0.47467	.	.	ENSG00000187513	ENST00000342280	D	0.97553	-4.43	5.52	5.52	0.82312	.	0.854734	0.10311	N	0.689936	D	0.96244	0.8775	L	0.44542	1.39	0.37490	D	0.916369	B	0.28512	0.214	B	0.34873	0.191	D	0.93004	0.6426	10	0.59425	D	0.04	.	19.4501	0.94863	0.0:1.0:0.0:0.0	.	303	P35212	CXA4_HUMAN	F	303	ENSP00000343676:S303F	ENSP00000343676:S303F	S	+	2	0	GJA4	35033309	0.046000	0.20272	0.668000	0.29813	0.691000	0.40173	1.444000	0.35068	2.579000	0.87056	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	1	0	0	13	124	0	37	0	5.683219e-01	0	19	0	37	2		0	0	0	0	0	2	1	9.995139e-01	13	119	0	35	2								-3.143002	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.830000	0.520000	0.990000	0.960000	0.818197	0.830000	0	6.700000e-01	9.500000e-01
DLGAP3	58512	broad.mit.edu	37	1	35370403	35370403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35370403G>T	ENST00000373347.1	-	3	850	c.582C>A	c.(580-582)gaC>gaA	p.D194E	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3			46		Myeloproliferative disorder(586;0.0393)			GCCCATTATAGTCCCGCTTCC	0.647000																								0							SO:0001583	missense			ENST00000373347.1	1	1	hg19	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	5.093	0.202863	0.09704	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.23552	1.9;1.9	4.47	2.29	0.28610	.	0.126216	0.53938	D	0.000043	T	0.11793	0.0287	N	0.11927	0.2	0.31210	N	0.698711	B	0.13594	0.008	B	0.10450	0.005	T	0.12811	-1.0533	10	0.23891	T	0.37	-12.827	6.8141	0.23820	0.1842:0.3212:0.4945:0.0	.	194	O95886	DLGP3_HUMAN	E	194	ENSP00000362444:D194E;ENSP00000235180:D194E	ENSP00000235180:D194E	D	-	3	2	DLGAP3	35142990	0.948000	0.32251	1.000000	0.80357	0.957000	0.61999	0.087000	0.14958	0.959000	0.37980	0.448000	0.29417	GAC		TCGA-IB-7651-01A-11D-2154-08	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	1	0	0	27	278	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	1	26	278	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.850000	0.610000	0.990000	0.930000	0.849860	0.850000	1	7.300000e-01	9.600000e-01
ZMYM1	79830	broad.mit.edu	37	1	35578670	35578670	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35578670T>C	ENST00000373330.1	+	11	1413	c.1239T>C	c.(1237-1239)agT>agC	p.S413S	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.S413S			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1			31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			CAGTATTCAGTCAGCATGCAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000373330.1	0	1	hg19	CCDS41302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	0	0	0	21	171	1	41	0	3.929128e-01	3	24	1	41	4		0	0	0	0	0	2	1	8.737197e-01	21	167	1	41	15								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.650000	1.000000	0.990000	0.884816	0.900000	1	7.800000e-01	9.800000e-01
ZMYM1	79830	broad.mit.edu	37	1	35580389	35580389	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35580389T>C	ENST00000373330.1	+	11	3132	c.2958T>C	c.(2956-2958)ttT>ttC	p.F986F	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.F986F			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1			31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			TTTCGGAGTTTGATTATTGCA	0.244000																								0							SO:0001819	synonymous_variant			ENST00000373330.1	1	1	hg19	CCDS41302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	1	0	1	11	114	0	26	0	2.092724e-01	1	8	0	26	2		0	0	0	0	0	2	1	9.981311e-01	11	108	0	26	2								-16.838770	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.790000	0.460000	0.990000	0.890000	0.785314	0.790000	0	6.200000e-01	9.400000e-01
ZMYM4	9202	broad.mit.edu	37	1	35873657	35873657	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35873657A>G	ENST00000314607.6	+	26	3925	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4			54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			ACTTTTGCTGAGTTGAGTTTG	0.398000																								0							SO:0001583	missense			ENST00000314607.6	1	1	hg19	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.261489|5.261489	0.95368|0.95368	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.32023|.	1.47;1.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76335|.	0.3973|.	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	P|.	0.48640|.	0.913|.	P|.	0.49752|.	0.621|.	T|.	0.77205|.	-0.2673|.	10|.	0.87932|.	D|.	0|.	-13.7096|-13.7096	16.1199|16.1199	0.81342|0.81342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1282|.	Q5VZL5|.	ZMYM4_HUMAN|.	G|W	1282;1193|940	ENSP00000322915:E1282G;ENSP00000362394:E1193G|.	ENSP00000322915:E1282G|.	E|X	+|+	2|3	0|0	ZMYM4|ZMYM4	35646244|35646244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.904000|8.904000	0.92590|0.92590	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	GAG|TGA		TCGA-IB-7651-01A-11D-2154-08	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	1	0	0	63	610	0	153	1	9.697745e-01	3	53	0	153	2		0	0	0	0	0	2	1	1	61	601	0	151	2								-17.674210	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.750000	1.000000	0.990000	0.912259	0.910000	1	8.300000e-01	9.800000e-01
KIAA0319L	79932	broad.mit.edu	37	1	35900633	35900633	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35900633C>A	ENST00000325722.3	-	21	3246	c.3012G>T	c.(3010-3012)gaG>gaT	p.E1004D	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like			34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			CCAGCTCTGACTCGGAGTGCA	0.542000																								0							SO:0001583	missense			ENST00000325722.3	1	1	hg19	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313141	0.40895	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.10860	3.01;2.83;2.92	4.94	0.794	0.18638	.	0.047201	0.85682	D	0.000000	T	0.08447	0.0210	L	0.40543	1.245	0.80722	D	1	B;B	0.27765	0.188;0.018	B;B	0.24974	0.057;0.013	T	0.22243	-1.0222	10	0.42905	T	0.14	-16.1955	8.7575	0.34654	0.0:0.617:0.0:0.383	.	1004;446	Q8IZA0;Q8IZA0-3	K319L_HUMAN;.	D	1004;441;1004	ENSP00000318406:E1004D;ENSP00000362363:E441D;ENSP00000395883:E1004D	ENSP00000318406:E1004D	E	-	3	2	KIAA0319L	35673220	1.000000	0.71417	0.874000	0.34290	0.972000	0.66771	0.998000	0.29744	0.132000	0.18615	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	1	0	1	60	217	0	65	1	1	46	116	0	65	2		0	0	0	0	0	2	1	1	61	215	0	65	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.979261	0.980000	1	9.500000e-01	1
NCDN	23154	broad.mit.edu	37	1	36026194	36026194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36026194C>T	ENST00000373243.2	+	3	825	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.R131C|NCDN_ENST00000356090.4_Missense_Mutation_p.R148C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin			16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			CGATGCTGCCCGCCGCTCCAT	0.627000																								0							SO:0001583	missense			ENST00000373243.2	1	1	hg19	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414922	0.42817	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.75821	-0.97;-0.97;-0.97	5.51	5.51	0.81932	.	0.380726	0.28312	N	0.015812	T	0.54351	0.1853	N	0.08118	0	0.47245	D	0.99936	B	0.14012	0.009	B	0.09377	0.004	T	0.51942	-0.8641	10	0.35671	T	0.21	.	11.809	0.52171	0.0:0.9201:0.0:0.0799	.	148	Q9UBB6	NCDN_HUMAN	C	131;148;148;131	ENSP00000362350:R131C;ENSP00000348394:R148C;ENSP00000362340:R148C	ENSP00000348394:R148C	R	+	1	0	NCDN	35798781	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.985000	0.29578	2.586000	0.87340	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	0	0	0	37	993	0	156	1	8.939442e-01	7	99	0	156	2		0	0	0	0	0	2	1	1	36	947	0	152	2								-2.593211	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.380000	0.270000	0.510000	0.380000	0.392619	0.380000	0	3.200000e-01	4.500000e-01
NCDN	23154	broad.mit.edu	37	1	36028103	36028103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36028103G>A	ENST00000373243.2	+	4	1637	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	NCDN_ENST00000373253.3_Silent_p.L401L|NCDN_ENST00000356090.4_Silent_p.L418L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin			16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			GCCAGCTGCTGCCCTTCCTCG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000373243.2	1	1	hg19	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284619	0.23392	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.8	3.89	0.44902	.	.	.	.	.	T	0.60327	0.2260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57705	-0.7765	4	.	.	.	.	10.1781	0.42950	0.0909:0.0:0.9091:0.0	.	.	.	.	Y	12	.	.	C	+	2	0	NCDN	35800690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.389000	0.44407	1.257000	0.44085	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	1	0	1	29	219	0	38	1	9.997573e-01	20	80	0	38	2		0	0	0	0	0	2	1	1	28	214	0	38	2								-13.124500	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.916332	0.920000	1	8.300000e-01	9.800000e-01
NCDN	23154	broad.mit.edu	37	1	36029470	36029470	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36029470C>T	ENST00000373243.2	+	6	2096	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	NCDN_ENST00000373253.3_Silent_p.T554T|NCDN_ENST00000356090.4_Silent_p.T571T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin			16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			ATGTGGCCACCCTGGGGCTCC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000373243.2	1	1	hg19	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838179	0.16891	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.55	1.49	0.22878	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26677	-1.0096	4	.	.	.	.	4.447	0.11602	0.148:0.4988:0.0:0.3531	.	.	.	.	L	165	.	.	P	+	2	0	NCDN	35802057	0.701000	0.27806	1.000000	0.80357	0.977000	0.68977	-0.339000	0.07832	0.336000	0.23639	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	1	0	1	31	296	0	59	1	9.980816e-01	18	76	0	59	2		0	0	0	0	0	2	1	1	30	291	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.660000	1.000000	0.990000	0.879138	0.890000	1	7.800000e-01	9.700000e-01
TFAP2E	339488	broad.mit.edu	37	1	36053933	36053933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36053933C>T	ENST00000373235.3	+	4	773	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)			2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)			CTCCACAGTGCCCATCCCCTC	0.597000																								0							SO:0001583	missense			ENST00000373235.3	1	1	hg19	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891777	0.52014	.	.	ENSG00000116819	ENST00000373235	D	0.97575	-4.44	5.68	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.75085	2.285	0.80722	D	1	P	0.38535	0.635	B	0.35073	0.195	D	0.96075	0.9049	10	0.59425	D	0.04	-25.056	15.0334	0.71725	0.0:0.9305:0.0:0.0695	.	189	Q6VUC0	AP2E_HUMAN	S	189	ENSP00000362332:P189S	ENSP00000362332:P189S	P	+	1	0	TFAP2E	35826520	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.763000	0.68818	2.683000	0.91414	0.313000	0.20887	CCC		TCGA-IB-7651-01A-11D-2154-08	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	0	0	1	64	260	0	54	0	4.024315e-02	0	2	0	54	2		0	0	0	0	0	2	1	1	63	255	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.979122	0.980000	1	9.500000e-01	1
CLSPN	63967	broad.mit.edu	37	1	36208797	36208797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36208797C>T	ENST00000318121.3	-	18	3145	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	CLSPN_ENST00000251195.5_Missense_Mutation_p.E1030K|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin			56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			TCATCATCTTCATGGTCTTCC	0.368000																								0							SO:0001583	missense			ENST00000318121.3	1	1	hg19	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446160	0.63178	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.26373	1.74;1.74;1.77;1.78	5.17	5.17	0.71159	.	0.326183	0.31531	N	0.007486	T	0.34193	0.0889	L	0.53249	1.67	0.34227	D	0.6761	P;D	0.56287	0.949;0.975	B;P	0.48815	0.31;0.591	T	0.48328	-0.9045	10	0.48119	T	0.1	-7.7497	15.7587	0.78058	0.0:1.0:0.0:0.0	.	966;1030	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	1030;1030;966;977	ENSP00000251195:E1030K;ENSP00000312995:E1030K;ENSP00000362317:E966K;ENSP00000428848:E977K	ENSP00000251195:E1030K	E	-	1	0	CLSPN	35981384	0.159000	0.22864	0.998000	0.56505	0.373000	0.29922	1.465000	0.35299	2.579000	0.87056	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	1	0	1	78	624	0	117	1	3.541987e-01	3	8	0	117	2		0	0	0	0	0	2	1	1	74	611	0	117	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.956175	0.960000	1	9.100000e-01	9.900000e-01
TEKT2	27285	broad.mit.edu	37	1	36553677	36553677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36553677C>T	ENST00000207457.3	+	10	1310	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)			13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			GGACACACGGCGCAAGCTGAC	0.607000																								0							SO:0001583	missense			ENST00000207457.3	1	1	hg19	CCDS401.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376836	0.42105	.	.	ENSG00000092850	ENST00000207457	T	0.02737	4.18	4.95	4.95	0.65309	.	0.356751	0.28964	N	0.013579	T	0.06600	0.0169	M	0.77103	2.36	0.54753	D	0.999989	B	0.16802	0.019	B	0.17722	0.019	T	0.04467	-1.0949	10	0.62326	D	0.03	.	13.8828	0.63691	0.1531:0.8469:0.0:0.0	.	395	Q9UIF3	TEKT2_HUMAN	C	395	ENSP00000207457:R395C	ENSP00000207457:R395C	R	+	1	0	TEKT2	36326264	0.571000	0.26659	0.820000	0.32676	0.669000	0.39330	0.973000	0.29422	2.266000	0.75297	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	1	0	1	26	111	0	39	0	1.005664e-01	0	3	0	39	2		0	0	0	0	0	2	1	1	26	109	0	39	2								-20.000000	1	1	121392	2	35	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.946804	0.950000	1	8.900000e-01	9.900000e-01
ADPRHL2	54936	broad.mit.edu	37	1	36558779	36558779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36558779C>A	ENST00000373178.4	+	6	914	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2			8		Myeloproliferative disorder(586;0.0393)			CCTGAGATCCCTTCTGCCTTC	0.557000																								0							SO:0001583	missense			ENST00000373178.4	1	1	hg19	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501166	0.85176	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.50001	0.76	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.74768	-0.3553	10	0.62326	D	0.03	-11.1167	14.2562	0.66053	0.0:0.9283:0.0:0.0716	.	295	Q9NX46	ARHL2_HUMAN	H	295;215;141	ENSP00000362273:P295H	ENSP00000362273:P295H	P	+	2	0	ADPRHL2	36331366	1.000000	0.71417	0.842000	0.33263	0.949000	0.60115	7.783000	0.85696	1.305000	0.44909	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	0	0	1	81	271	0	94	1	1	68	110	0	94	2		0	0	0	0	0	2	1	1	78	266	0	93	2								-3.765009	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.985908	0.980000	1	9.600000e-01	1
COL8A2	1296	broad.mit.edu	37	1	36563619	36563619	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563619C>T	ENST00000397799.1	-	4	1887	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	COL8A2_ENST00000303143.4_Missense_Mutation_p.V555M|COL8A2_ENST00000481785.1_Missense_Mutation_p.V490M			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2			17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			TTGCCCAGCACGGCACCCTCC	0.721000																								0							SO:0001583	missense			ENST00000397799.1	0	1	hg19	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580132	0.46006	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91295	-2.82;-2.82;-2.82	3.99	3.99	0.46301	.	0.214888	0.38778	N	0.001572	D	0.90191	0.6934	L	0.47716	1.5	0.41621	D	0.988961	D	0.71674	0.998	P	0.53809	0.735	D	0.89884	0.4032	10	0.46703	T	0.11	.	11.8389	0.52342	0.1751:0.8249:0.0:0.0	.	555	P25067	CO8A2_HUMAN	M	555;555;490;279	ENSP00000305913:V555M;ENSP00000380901:V555M;ENSP00000436433:V490M	ENSP00000305913:V555M	V	-	1	0	COL8A2	36336206	0.980000	0.34600	0.931000	0.37212	0.980000	0.70556	2.197000	0.42696	2.223000	0.72356	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	1	0	0	10	61	0	18	0	9.964713e-01	1	65	0	18	2		0	0	0	0	0	2	1	9.973921e-01	10	60	0	17	2								-18.352070	1	0	120296	6	32	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.560000	1.000000	0.990000	0.858624	0.880000	1	7.300000e-01	9.700000e-01
COL8A2	1296	broad.mit.edu	37	1	36563679	36563679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563679C>T	ENST00000397799.1	-	4	1827	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T|COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2			17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			TCATCGAAGGCCCCAGGGGCA	0.746000																								0							SO:0001583	missense			ENST00000397799.1	0	1	hg19	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246784	0.10130	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.94280	-3.39;-3.39;-3.39	3.85	0.904	0.19302	.	0.539335	0.16818	N	0.198300	D	0.86527	0.5954	L	0.38649	1.16	0.29604	N	0.847453	B	0.02656	0.0	B	0.01281	0.0	T	0.73193	-0.4060	10	0.12766	T	0.61	.	9.4277	0.38590	0.0:0.7447:0.0:0.2553	.	535	P25067	CO8A2_HUMAN	T	535;535;470;259	ENSP00000305913:A535T;ENSP00000380901:A535T;ENSP00000436433:A470T	ENSP00000305913:A535T	A	-	1	0	COL8A2	36336266	0.412000	0.25392	0.817000	0.32601	0.560000	0.35617	0.763000	0.26517	0.419000	0.25927	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	1	0	1	9	70	0	15	0	7.927319e-01	1	24	0	15	2		0	0	0	0	0	2	1	9.951329e-01	9	70	0	15	2								-15.693750	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.500000	1.000000	0.990000	0.821370	0.840000	0	6.700000e-01	9.600000e-01
COL8A2	1296	broad.mit.edu	37	1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36564482C>T	ENST00000397799.1	-	4	1024	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2			17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			GCCCACAGCTCCTGGCTCCCC	0.662000																								0							SO:0001583	missense			ENST00000397799.1	1	1	hg19	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184875	0.38609	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97924	-4.61;-4.61;-4.61	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.72032	D	0.01	.	15.8236	0.78678	0.0:1.0:0.0:0.0	.	267	P25067	CO8A2_HUMAN	E	267;267;202	ENSP00000305913:G267E;ENSP00000380901:G267E;ENSP00000436433:G202E	ENSP00000305913:G267E	G	-	2	0	COL8A2	36337069	0.999000	0.42202	0.977000	0.42913	0.470000	0.32858	5.903000	0.69877	1.948000	0.56530	0.205000	0.17691	GGA		TCGA-IB-7651-01A-11D-2154-08	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	1	0	1	18	140	0	37	1	9.857956e-01	3	54	0	37	2		0	0	0	0	0	2	1	9.999873e-01	18	140	0	36	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.640000	1.000000	0.990000	0.880349	0.890000	1	7.700000e-01	9.700000e-01
MAP7D1	55700	broad.mit.edu	37	1	36640530	36640530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36640530C>T	ENST00000373151.2	+	6	987	c.771C>T	c.(769-771)aaC>aaT	p.N257N	MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_Silent_p.N257N	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1			19		Myeloproliferative disorder(586;0.0393)			CGGCAGTTAACCTGCCCAAAC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000373151.2	1	1	hg19	CCDS30673.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	1	0	1	32	190	0	52	1	9.999993e-01	32	105	0	52	2		0	0	0	0	0	2	1	1	31	185	0	51	2								-20.000000	1	1	121412	2	31	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.790000	1.000000	0.990000	0.942457	0.950000	1	8.800000e-01	9.900000e-01
MAP7D1	55700	broad.mit.edu	37	1	36642393	36642393	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642393G>A	ENST00000373151.2	+	8	1545	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	MAP7D1_ENST00000316156.4_Silent_p.L406L|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_Silent_p.L411L	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1			19		Myeloproliferative disorder(586;0.0393)			GCCAGTCGCTGCCCGCCTCCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000373151.2	0	1	hg19	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033468	0.19590	.	.	ENSG00000116871	ENST00000530975	.	.	.	5.04	-0.339	0.12647	.	.	.	.	.	T	0.50309	0.1608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	-14.0724	5.145	0.14979	0.241:0.2783:0.4807:0.0	.	.	.	.	T	26	.	.	A	+	1	0	MAP7D1	36414980	0.997000	0.39634	0.940000	0.37924	0.584000	0.36387	0.232000	0.17891	-0.243000	0.09653	-0.254000	0.11334	GCC		TCGA-IB-7651-01A-11D-2154-08	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	1	0	0	7	55	0	11	1	9.999004e-01	18	163	0	11	2		0	0	0	0	0	2	1	9.816825e-01	7	54	0	11	2								-13.236600	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.810000	0.440000	0.990000	0.990000	0.795449	0.810000	0	6.300000e-01	9.500000e-01
MAP7D1	55700	broad.mit.edu	37	1	36642421	36642421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642421G>A	ENST00000373151.2	+	8	1573	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MAP7D1_ENST00000316156.4_Missense_Mutation_p.A416T|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_Missense_Mutation_p.A421T	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1			19		Myeloproliferative disorder(586;0.0393)			CCGCCTCTCTGCCAGCACCGC	0.647000																								0							SO:0001583	missense			ENST00000373151.2	0	1	hg19	CCDS30673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.64|10.64	1.407987|1.407987	0.25378|0.25378	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151|ENST00000530975	T;T;T|.	0.16196|.	3.56;2.36;3.56|.	4.52|4.52	-5.79|-5.79	0.02354|0.02354	.|.	0.456133|.	0.16372|.	N|.	0.217268|.	T|T	0.30166|0.30166	0.0756|0.0756	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.25441|.	0.126;0.0;0.0;0.126|.	B;B;B;B|.	0.19946|.	0.027;0.001;0.001;0.027|.	T|T	0.36841|0.36841	-0.9731|-0.9731	10|5	0.45353|.	T|.	0.12|.	0.0076|0.0076	0.7636|0.7636	0.01011|0.01011	0.3726:0.1128:0.1722:0.3424|0.3726:0.1128:0.1722:0.3424	.|.	453;416;421;453|.	D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3|.	.;.;.;MA7D1_HUMAN|.	T|Y	416;421;453|35	ENSP00000320228:A416T;ENSP00000362243:A421T;ENSP00000362244:A453T|.	ENSP00000320228:A416T|.	A|C	+|+	1|2	0|0	MAP7D1|MAP7D1	36415008|36415008	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.182000|-1.182000	0.03082|0.03082	-0.856000|-0.856000	0.04120|0.04120	-0.314000|-0.314000	0.08810|0.08810	GCC|TGC		TCGA-IB-7651-01A-11D-2154-08	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	0	0	0	7	60	0	9	1	9.999956e-01	30	295	0	9	2		0	0	0	0	0	2	1	9.692206e-01	6	51	0	8	2								-13.073450	1	0	118128	4	18	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.800000	0.420000	0.990000	0.990000	0.782593	0.800000	0	6.100000e-01	9.400000e-01
THRAP3	9967	broad.mit.edu	37	1	36766592	36766592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36766592G>T	ENST00000354618.5	+	10	2633	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3			37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			AGGAAAGAGAGGAGAGCACCA	0.512000			T	USP6	aneurysmal bone cysts								Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0							SO:0001583	missense			ENST00000354618.5	1	1	hg19	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479885	0.63849	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.16196	2.36;2.36	5.51	2.51	0.30379	.	0.000000	0.64402	D	0.000001	T	0.16041	0.0386	L	0.54323	1.7	0.35027	D	0.758439	B	0.12013	0.005	B	0.15870	0.014	T	0.11717	-1.0576	10	0.33141	T	0.24	-19.3771	10.2893	0.43586	0.2348:0.0:0.7652:0.0	.	803	Q9Y2W1	TR150_HUMAN	D	803	ENSP00000346634:E803D;ENSP00000433825:E803D	ENSP00000346634:E803D	E	+	3	2	THRAP3	36539179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.993000	0.40747	0.767000	0.33267	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	1	0	1	34	269	0	81	1	1	96	391	0	81	2		0	0	0	0	0	2	1	1	33	266	0	80	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.740000	1.000000	0.990000	0.919644	0.930000	1	8.400000e-01	9.900000e-01
CCDC27	148870	broad.mit.edu	37	1	3683818	3683818	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3683818A>G	ENST00000294600.2	+	10	1636	c.1552A>G	c.(1552-1554)Aag>Gag	p.K518E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27			36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)			ACTGGAGAGAAAGCTCACCAA	0.562000																								0							SO:0001583	missense			ENST00000294600.2	1	1	hg19	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	0.225	-1.025232	0.02061	.	.	ENSG00000162592	ENST00000294600	T	0.17528	2.27	5.24	1.08	0.20341	.	0.775011	0.11797	N	0.528528	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B	0.20261	0.043	B	0.17722	0.019	T	0.44605	-0.9317	10	0.13853	T	0.58	-3.2002	7.2761	0.26286	0.4014:0.0:0.5986:0.0	.	518	Q2M243	CCD27_HUMAN	E	518	ENSP00000294600:K518E	ENSP00000294600:K518E	K	+	1	0	CCDC27	3673678	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.177000	0.16801	-0.071000	0.12886	-0.899000	0.02877	AAG		TCGA-IB-7651-01A-11D-2154-08	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	1	0	1	19	150	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.999923e-01	19	147	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.890000	0.640000	1.000000	0.990000	0.882237	0.890000	1	7.800000e-01	9.800000e-01
MRPS15	64960	broad.mit.edu	37	1	36921477	36921477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36921477G>T	ENST00000373116.5	-	8	847	c.686C>A	c.(685-687)gCt>gAt	p.A229D	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15			14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			TGCTGCTGCAGCCTTTAAGGC	0.473000																								0							SO:0001583	missense			ENST00000373116.5	1	1	hg19	CCDS411.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713210	0.68730	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.47	4.51	0.55191	.	0.487586	0.21396	N	0.075224	T	0.50017	0.1591	M	0.64997	1.995	0.30780	N	0.742056	P	0.50066	0.931	P	0.45310	0.476	T	0.59815	-0.7383	9	0.56958	D	0.05	-13.38	13.6971	0.62587	0.0:0.0:0.8472:0.1528	.	229	P82914	RT15_HUMAN	D	229	.	ENSP00000362208:A229D	A	-	2	0	MRPS15	36694064	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.724000	0.38064	2.730000	0.93505	0.643000	0.83706	GCT		TCGA-IB-7651-01A-11D-2154-08	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	1	0	1	62	464	0	104	1	1	43	164	0	104	2		0	0	0	0	0	2	1	1	62	455	0	104	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.954349	0.960000	1	9.000000e-01	9.900000e-01
CSF3R	1441	broad.mit.edu	37	1	36939383	36939383	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36939383A>G	ENST00000373106.1	-	5	1014	c.467T>C	c.(466-468)tTc>tCc	p.F156S	CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000373103.1_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000487540.2_5'Flank	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)			38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)		Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTCAGAGTGAAGCTGGTGGG	0.602000																								0							SO:0001583	missense			ENST00000373106.1	1	1	hg19	CCDS413.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900556	0.72754	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.52	5.52	0.82312	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.585977	0.19347	N	0.116499	T	0.54631	0.1870	L	0.58428	1.81	0.39473	D	0.967753	D;D;D;D	0.89917	1.0;0.998;0.999;0.997	D;D;D;D	0.69654	0.965;0.927;0.931;0.917	T	0.55958	-0.8058	10	0.49607	T	0.09	-32.3395	13.3768	0.60743	1.0:0.0:0.0:0.0	.	156;156;156;156	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	S	156	ENSP00000362198:F156S;ENSP00000362196:F156S;ENSP00000362195:F156S;ENSP00000355406:F156S;ENSP00000332180:F156S;ENSP00000401588:F156S;ENSP00000345013:F156S;ENSP00000397568:F156S	ENSP00000332180:F156S	F	-	2	0	CSF3R	36711970	0.998000	0.40836	1.000000	0.80357	0.873000	0.50193	1.549000	0.36212	2.107000	0.64212	0.496000	0.49642	TTC		TCGA-IB-7651-01A-11D-2154-08	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	1	0	1	62	214	0	61	0	9.940029e-01	0	30	0	61	2		0	0	0	0	0	2	1	1	61	205	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980543	0.980000	1	9.500000e-01	1
LRRC47	57470	broad.mit.edu	37	1	3699296	3699296	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3699296A>G	ENST00000378251.1	-	5	1369	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H	RP1-286D6.5_ENST00000607459.1_RNA|RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47			17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)			AGACACGGGTAATTTTCATTT	0.438000																								0							SO:0001583	missense			ENST00000378251.1	1	1	hg19	CCDS51.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189190	0.78789	.	.	ENSG00000130764	ENST00000378251	T	0.54479	0.57	4.49	4.49	0.54785	B3/B4 tRNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80894	-0.1178	10	0.87932	D	0	-30.4893	12.9815	0.58567	1.0:0.0:0.0:0.0	.	448	Q8N1G4	LRC47_HUMAN	H	448	ENSP00000367498:Y448H	ENSP00000367498:Y448H	Y	-	1	0	LRRC47	3689156	1.000000	0.71417	0.843000	0.33291	0.986000	0.74619	8.820000	0.92003	1.669000	0.50854	0.402000	0.26972	TAC		TCGA-IB-7651-01A-11D-2154-08	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	1	0	1	56	295	0	70	1	1	65	99	0	70	2		0	0	0	0	0	2	1	1	54	284	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.969869	0.970000	1	9.300000e-01	1
LRRC47	57470	broad.mit.edu	37	1	3703686	3703686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3703686G>A	ENST00000378251.1	-	2	831	c.804C>T	c.(802-804)ggC>ggT	p.G268G	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47			17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)			CACGGCCCTTGCCCTTCCCGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000378251.1	1	1	hg19	CCDS51.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	1	0	1	37	286	0	63	0	9.998757e-01	0	107	0	63	2		0	0	0	0	0	2	1	1	37	279	0	61	2								-3.318806	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.930000	0.760000	1.000000	0.990000	0.927268	0.930000	1	8.500000e-01	9.900000e-01
ZC3H12A	80149	broad.mit.edu	37	1	37947216	37947216	+	Missense_Mutation	SNP	C	C	T	rs141438153	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37947216C>T	ENST00000373087.6	+	4	714	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A			21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			GCACATCCTGCGGGAACTGGA	0.602000																								0							SO:0001583	missense			ENST00000373087.6	1	1	hg19	CCDS417.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.30	3.354347	0.61293	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44881	0.91	5.42	2.49	0.30216	Ribonuclease Zc3h12a-like (1);	0.177358	0.50627	N	0.000109	T	0.47948	0.1473	L	0.36672	1.1	0.36793	D	0.884925	D	0.89917	1.0	D	0.77557	0.99	T	0.51124	-0.8745	10	0.59425	D	0.04	-16.5197	6.2099	0.20623	0.112:0.6504:0.1088:0.1288	.	200	Q5D1E8	ZC12A_HUMAN	W	200	ENSP00000362179:R200W	ENSP00000362174:R200W	R	+	1	2	ZC3H12A	37719803	0.525000	0.26290	0.956000	0.39512	0.919000	0.55068	0.474000	0.22148	0.014000	0.14944	-1.134000	0.01955	CGG		TCGA-IB-7651-01A-11D-2154-08	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	1	0	0	36	334	0	86	1	9.456466e-01	4	43	0	86	2		0	0	0	0	0	2	1	1	36	329	0	85	2								-3.318794	1	1	121412	5	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.690000	1.000000	0.990000	0.894768	0.900000	1	8.000000e-01	9.800000e-01
ZC3H12A	80149	broad.mit.edu	37	1	37948755	37948755	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37948755C>T	ENST00000373087.6	+	6	1459	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A			21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			AGCCAGATGTCGGAACTTTGG	0.647000																								0							SO:0001583	missense			ENST00000373087.6	1	1	hg19	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320778	0.81469	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.20598	2.06	5.52	5.52	0.82312	.	0.603852	0.16474	N	0.212828	T	0.45816	0.1361	M	0.68952	2.095	0.39404	D	0.966641	D;D	0.71674	0.998;0.985	D;P	0.64877	0.93;0.456	T	0.41662	-0.9496	10	0.72032	D	0.01	-19.643	17.6306	0.88106	0.0:1.0:0.0:0.0	.	243;448	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	L	448	ENSP00000362179:S448L	ENSP00000362174:S448L	S	+	2	0	ZC3H12A	37721342	0.974000	0.33945	1.000000	0.80357	0.950000	0.60333	2.423000	0.44705	2.579000	0.87056	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	1	0	1	66	274	0	51	1	9.853048e-01	2	28	0	51	2		0	0	0	0	0	2	1	1	63	268	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.979485	0.980000	1	9.500000e-01	1
DFFB	1677	broad.mit.edu	37	1	3800135	3800135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3800135G>T	ENST00000378209.3	+	7	1170	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)			12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)			AGATGGAAGAGAAGTGGACTG	0.413000																								0							SO:0001587	stop_gained			ENST00000378209.3	0	1	hg19	CCDS52.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017598	0.97205	.	.	ENSG00000169598	ENST00000378209;ENST00000339350;ENST00000378206	.	.	.	5.3	5.3	0.74995	.	0.155202	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-23.2552	17.9466	0.89040	0.0:0.0:1.0:0.0	.	.	.	.	X	283;219;219	.	ENSP00000343218:E219X	E	+	1	0	DFFB	3789995	0.995000	0.38212	0.136000	0.22124	0.031000	0.12232	2.836000	0.48183	2.467000	0.83353	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	0	0	0	12	573	0	138	0	8.744291e-02	0	22	0	138	2		0	0	0	0	0	2	1	9.990405e-01	11	565	0	137	2								-3.269903	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.220000	0.120000	0.360000	0.220000	0.234423	0.220000	0	1.600000e-01	3.000000e-01
SNIP1	79753	broad.mit.edu	37	1	38003439	38003439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38003439G>A	ENST00000296215.6	-	4	1173	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1			25		Myeloproliferative disorder(586;0.0393)			GGAGCAAGACGTATTCTCTGC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000296215.6	1	1	hg19	CCDS419.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	1	0	0	109	411	0	94	1	9.999909e-01	18	47	0	94	2		0	0	0	0	0	2	1	1	107	405	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989299	0.980000	1	9.700000e-01	1
SNIP1	79753	broad.mit.edu	37	1	38006201	38006201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38006201C>A	ENST00000296215.6	-	3	555	c.483G>T	c.(481-483)caG>caT	p.Q161H	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1			25		Myeloproliferative disorder(586;0.0393)			GTCCCTGACCCTGCCCACTCC	0.587000																								0							SO:0001583	missense			ENST00000296215.6	1	1	hg19	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439562	0.12104	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.14766	2.48	4.39	4.39	0.52855	.	0.261227	0.37761	N	0.001952	T	0.07818	0.0196	N	0.14661	0.345	0.30487	N	0.771717	P	0.39624	0.681	B	0.37601	0.254	T	0.04930	-1.0917	10	0.41790	T	0.15	-9.8716	8.976	0.35935	0.0:0.7008:0.215:0.0843	.	161	Q8TAD8	SNIP1_HUMAN	H	161;145	ENSP00000296215:Q161H	ENSP00000296215:Q161H	Q	-	3	2	SNIP1	37778788	0.345000	0.24835	0.995000	0.50966	0.036000	0.12997	-0.332000	0.07904	2.733000	0.93635	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	1	0	1	139	589	0	149	1	9.997107e-01	18	34	0	149	2		0	0	0	0	0	2	1	1	135	572	0	146	2								-3.462617	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991264	0.990000	1	9.700000e-01	1
GNL2	29889	broad.mit.edu	37	1	38040330	38040330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38040330T>C	ENST00000373062.3	-	11	1336	c.1238A>G	c.(1237-1239)gAt>gGt	p.D413G		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)			30		Myeloproliferative disorder(586;0.0393)			CTCCCAAGAATCAATCTTGTA	0.408000																								0							SO:0001583	missense			ENST00000373062.3	0	1	hg19	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230874	0.58777	.	.	ENSG00000134697	ENST00000373062	T	0.59502	0.26	5.87	5.87	0.94306	GTP-binding protein, orthogonal bundle domain (1);	0.285499	0.44902	D	0.000415	T	0.57799	0.2078	L	0.60455	1.87	0.42968	D	0.994427	B	0.30973	0.302	B	0.32928	0.155	T	0.58940	-0.7547	10	0.51188	T	0.08	-15.827	16.5764	0.84681	0.0:0.0:0.0:1.0	.	413	Q13823	NOG2_HUMAN	G	413	ENSP00000362153:D413G	ENSP00000362153:D413G	D	-	2	0	GNL2	37812917	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	5.340000	0.65958	2.371000	0.80710	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	0	0	1	8	252	0	51	1	9.502801e-01	17	151	0	51	2		0	0	0	0	0	2	1	9.896792e-01	9	251	0	51	2								-9.645800	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.330000	0.150000	0.590000	0.320000	0.355927	0.330000	0	2.300000e-01	4.600000e-01
GNL2	29889	broad.mit.edu	37	1	38042031	38042031	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38042031T>G	ENST00000373062.3	-	9	1134	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)			30		Myeloproliferative disorder(586;0.0393)			CAACGTACCTTTGTTTCACCT	0.418000																								0							SO:0001583	missense			ENST00000373062.3	1	1	hg19	CCDS421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.278906|5.278906	0.95489|0.95489	.|.	.|.	ENSG00000134697|ENSG00000134697	ENST00000373062;ENST00000545489|ENST00000538069	T|.	0.13778|.	2.56|.	6.14|6.14	6.14|6.14	0.99180|0.99180	GTP-binding domain, HSR1-related (1);|.	0.087721|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	P|.	0.35894|.	0.526|.	P|.	0.52031|.	0.688|.	T|T	0.75425|0.75425	-0.3322|-0.3322	10|5	0.66056|.	D|.	0.02|.	-15.4024|-15.4024	16.806|16.806	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	346|.	Q13823|.	NOG2_HUMAN|.	Q|H	346;187|197	ENSP00000362153:K346Q|.	ENSP00000362153:K346Q|.	K|Q	-|-	1|3	0|2	GNL2|GNL2	37814618|37814618	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.896000|0.896000	0.52359|0.52359	8.008000|8.008000	0.88588|0.88588	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	AAG|CAA		TCGA-IB-7651-01A-11D-2154-08	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	1	0	1	44	424	0	116	1	9.999989e-01	27	171	0	116	2		0	0	0	0	0	2	1	1	42	411	0	116	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.710000	1.000000	0.990000	0.896325	0.900000	1	8.100000e-01	9.700000e-01
C1orf174	339448	broad.mit.edu	37	1	3807396	3807396	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3807396G>T	ENST00000361605.3	-	3	453	c.355C>A	c.(355-357)Ctt>Att	p.L119I	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	p.L119F(1)		11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)			CCGAGAGGAAGACTTGCAGCC	0.567000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000361605.3	1	1	hg19	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	7.960	0.746792	0.15710	.	.	ENSG00000198912	ENST00000361605	T	0.06687	3.27	5.21	0.505	0.16953	.	0.903882	0.09604	N	0.779923	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37387	0.248	T	0.36890	-0.9729	10	0.15066	T	0.55	0.0171	5.3028	0.15788	0.2274:0.3099:0.4627:0.0	.	119	Q8IYL3	CA174_HUMAN	I	119	ENSP00000355306:L119I	ENSP00000355306:L119I	L	-	1	0	C1orf174	3797256	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.130000	0.10498	0.195000	0.20347	0.563000	0.77884	CTT		TCGA-IB-7651-01A-11D-2154-08	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	1	0	1	16	210	0	66	1	9.862660e-01	19	76	0	66	2		0	0	0	0	0	2	1	9.999316e-01	15	206	0	63	2								-19.869030	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.720000	0.440000	0.970000	0.730000	0.731258	0.720000	0	5.700000e-01	8.800000e-01
RSPO1	284654	broad.mit.edu	37	1	38082189	38082189	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082189C>T	ENST00000401069.1	-	4	965	c.253G>A	c.(253-255)Gac>Aac	p.D85N	RSPO1_ENST00000356545.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1			12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			TTGCGGGCGTCGAAGTATCCA	0.622000													GBM(122;680 2230 27822 42821)											0							SO:0001583	missense			ENST00000401069.1	1	1	hg19	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465498	0.96257	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.79	5.79	0.91817	Growth factor, receptor (1);	0.053446	0.85682	D	0.000000	T	0.77150	0.4088	N	0.21508	0.67	0.58432	D	0.99999	D;D;D	0.67145	0.996;0.975;0.957	P;P;B	0.52031	0.688;0.477;0.284	T	0.79916	-0.1601	10	0.72032	D	0.01	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	85;58;85	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	N	58;85;85;85;85;85	ENSP00000362150:D58N;ENSP00000383848:D85N;ENSP00000348944:D85N;ENSP00000383849:D85N;ENSP00000383847:D85N;ENSP00000383846:D85N	ENSP00000348944:D85N	D	-	1	0	RSPO1	37854776	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.609000	0.82925	2.753000	0.94483	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	0	0	0	67	278	1	71		0	0	0	1	71	2		0	0	0	0	0	2	1	1	66	273	1	70	17								-20.000000	1	0	120932	3	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.979828	0.980000	1	9.500000e-01	1
RSPO1	284654	broad.mit.edu	37	1	38082217	38082217	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082217G>A	ENST00000401069.1	-	4	937	c.225C>T	c.(223-225)tgC>tgT	p.C75C	RSPO1_ENST00000356545.2_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C|RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C|RSPO1_ENST00000401068.1_Silent_p.C75C	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1			12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			AGGACGGCAAGCAGACGCCCA	0.612000													GBM(122;680 2230 27822 42821)											0							SO:0001819	synonymous_variant			ENST00000401069.1	1	1	hg19	CCDS41304.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	1	0	1	46	379	0	81	0	1.234433e-02	0	2	0	81	2		0	0	0	0	0	2	1	1	46	373	0	80	2								-16.761680	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.770000	1.000000	0.990000	0.929947	0.930000	1	8.600000e-01	9.900000e-01
CDCA8	55143	broad.mit.edu	37	1	38168953	38168953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38168953C>T	ENST00000373055.1	+	7	791	c.518C>T	c.(517-519)gCc>gTc	p.A173V	CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8			11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			GTTACCCCAGCCGTGGGCCGA	0.537000																								0							SO:0001583	missense			ENST00000373055.1	1	1	hg19	CCDS424.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444363	0.63178	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.61627	0.09;0.09	5.81	5.81	0.92471	.	0.051856	0.85682	D	0.000000	T	0.71710	0.3372	L	0.54323	1.7	0.52501	D	0.99995	D	0.69078	0.997	D	0.80764	0.994	T	0.71573	-0.4552	10	0.54805	T	0.06	-11.3016	15.5657	0.76290	0.0:1.0:0.0:0.0	.	173	Q53HL2	BOREA_HUMAN	V	173	ENSP00000362146:A173V;ENSP00000316121:A173V	ENSP00000316121:A173V	A	+	2	0	CDCA8	37941540	0.973000	0.33851	0.982000	0.44146	0.059000	0.15707	3.905000	0.56333	2.735000	0.93741	0.637000	0.83480	GCC		TCGA-IB-7651-01A-11D-2154-08	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	0	0	1	70	735	0	209	1	7.487317e-01	8	22	0	209	2		0	0	0	0	0	2	1	1	67	662	0	177	2								-17.308140	1	1	121412	1	33	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.720000	1.000000	0.930000	0.889000	0.890000	1	8.000000e-01	9.700000e-01
EPHA10	284656	broad.mit.edu	37	1	38185149	38185149	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38185149C>A	ENST00000373048.4	-	15	2692	c.2693G>T	c.(2692-2694)aGc>aTc	p.S898I	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I|EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10			50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			GCTCAGGATGCTGTGGATCTG	0.612000																								0							SO:0001583	missense			ENST00000373048.4	1	1	hg19	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400763	0.62177	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.83506	-1.73;-1.73;-1.73	5.04	2.92	0.33932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.616022	0.13585	N	0.377082	D	0.82444	0.5038	L	0.57130	1.785	0.80722	D	1	P	0.45474	0.859	P	0.49829	0.623	T	0.81006	-0.1128	10	0.87932	D	0	.	5.1972	0.15245	0.0:0.6077:0.1722:0.2201	.	898	Q5JZY3	EPHAA_HUMAN	I	393;898;898	ENSP00000330379:S393I;ENSP00000397746:S898I;ENSP00000362139:S898I	ENSP00000330379:S393I	S	-	2	0	EPHA10	37957736	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.617000	0.24359	1.163000	0.42636	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	1	0	1	49	161	0	31	1	8.906921e-01	8	7	0	31	2		0	0	0	0	0	2	1	1	47	159	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.975515	0.970000	1	9.400000e-01	1
EPHA10	284656	broad.mit.edu	37	1	38187396	38187396	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38187396C>A	ENST00000373048.4	-	11	2081	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10			50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			GCGTGAGGGCCTCGGCCAGGA	0.672000																								0							SO:0001583	missense			ENST00000373048.4	1	1	hg19	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.018074	0.35606	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.81163	-1.46;-1.46;-1.46	4.07	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32328	N	0.006249	D	0.87865	0.6285	M	0.92649	3.33	0.80722	D	1	D	0.56746	0.977	P	0.55713	0.782	D	0.88495	0.3078	10	0.87932	D	0	.	8.8099	0.34961	0.0:0.7584:0.1517:0.0899	.	694	Q5JZY3	EPHAA_HUMAN	D	189;694;694	ENSP00000330379:E189D;ENSP00000397746:E694D;ENSP00000362139:E694D	ENSP00000330379:E189D	E	-	3	2	EPHA10	37959983	0.996000	0.38824	1.000000	0.80357	0.399000	0.30720	0.630000	0.24553	1.054000	0.40438	-0.339000	0.08088	GAG		TCGA-IB-7651-01A-11D-2154-08	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	1	0	1	34	123	0	35	0	4.752366e-01	1	6	0	35	2		0	0	0	0	0	2	1	1	34	120	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.962497	0.960000	1	9.200000e-01	1
EPHA10	284656	broad.mit.edu	37	1	38192845	38192845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38192845G>A	ENST00000373048.4	-	8	1700	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.V567V|EPHA10_ENST00000540011.1_Silent_p.V62V|EPHA10_ENST00000330210.7_Silent_p.V62V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10			50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			CTACGGTGACGACAATGGCGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000373048.4	1	1	hg19	CCDS41305.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	0	0	0	14	202	1	40	0	1.417760e-02	0	3	1	40	2		0	0	0	0	0	2	1	9.996885e-01	12	193	0	37	2								-5.913196	1	1	120990	6	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.670000	0.390000	0.950000	0.670000	0.684734	0.670000	0	5.200000e-01	8.400000e-01
EPHA10	284656	broad.mit.edu	37	1	38227628	38227628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38227628C>T	ENST00000373048.4	-	3	298	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10			50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			CACGAAGATGCGCTGCCCGCG	0.607000																								0							SO:0001583	missense			ENST00000373048.4	1	1	hg19	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867428	0.91511	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06449	3.3;3.3;3.3	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.29389	0.0732	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.11494	-1.0585	10	0.87932	D	0	.	16.6276	0.84975	0.0:1.0:0.0:0.0	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	100	ENSP00000397746:R100H;ENSP00000362139:R100H;ENSP00000316395:R100H	ENSP00000316395:R100H	R	-	2	0	EPHA10	38000215	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.593000	0.82686	2.448000	0.82819	0.549000	0.68633	CGC		TCGA-IB-7651-01A-11D-2154-08	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	1	0	1	79	646	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	78	639	0	130	2								-19.999990	1	1	121412	1	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.954090	0.960000	1	9.000000e-01	9.900000e-01
YRDC	79693	broad.mit.edu	37	1	38272774	38272774	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38272774G>A	ENST00000373044.2	-	2	507	c.503C>T	c.(502-504)cCt>cTt	p.P168L	C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000373043.1_5'UTR|C1orf122_ENST00000446260.2_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing			3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			TTGACTCACAGGCGTAAAAGG	0.517000																								0							SO:0001630	splice_region_variant			ENST00000373044.2	1	0	hg19	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292376	0.23564	.	.	ENSG00000196449	ENST00000373044	.	.	.	4.96	2.01	0.26516	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.418875	0.26847	N	0.022194	T	0.61022	0.2314	M	0.78285	2.405	0.47698	D	0.999497	B	0.11235	0.004	B	0.19666	0.026	T	0.57335	-0.7829	9	0.54805	T	0.06	.	10.0128	0.41997	0.0724:0.259:0.6685:0.0	.	168	Q86U90	YRDC_HUMAN	L	168	.	ENSP00000362135:P168L	P	-	2	0	YRDC	38045361	0.999000	0.42202	0.991000	0.47740	0.273000	0.26683	3.742000	0.55097	0.134000	0.18681	-0.251000	0.11542	CCT		TCGA-IB-7651-01A-11D-2154-08	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	1	0	1	51	239	0	62	1	9.997598e-01	14	47	0	62	2		0	0	0	0	0	2	1	1	50	235	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.970326	0.970000	1	9.300000e-01	1
MTF1	4520	broad.mit.edu	37	1	38287880	38287880	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38287880G>T	ENST00000373036.4	-	9	1820	c.1680C>A	c.(1678-1680)atC>atA	p.I560I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1			31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			TGGACTGCAGGATAGCTGTGT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000373036.4	1	1	hg19	CCDS30676.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	1	0	1	50	230	0	61	1	9.623505e-01	7	20	0	61	2		0	0	0	0	0	2	1	1	51	226	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.970186	0.970000	1	9.300000e-01	1
MTF1	4520	broad.mit.edu	37	1	38305726	38305726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38305726G>A	ENST00000373036.4	-	3	653	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1			31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			CCTGATTACAGACAAAGGTGT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000373036.4	1	1	hg19	CCDS30676.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	1	0	1	67	307	0	81	1	7.441352e-01	3	11	0	81	2		0	0	0	0	0	2	1	1	67	299	0	81	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978125	0.980000	1	9.500000e-01	1
INPP5B	3633	broad.mit.edu	37	1	38341380	38341380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38341380G>A	ENST00000373026.1	-	16	1926	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V	INPP5B_ENST00000373023.2_Silent_p.V642V|INPP5B_ENST00000373027.1_Silent_p.V398V|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Silent_p.V562V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa			15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			CGTCATTTACGACCCTCACCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000373026.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	0	0	0	6	153	0	34	1	3.686430e-01	3	27	0	34	2		0	0	0	0	0	2	1	9.591679e-01	6	144	0	34	2								-3.906717	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.410000	0.170000	0.760000	0.380000	0.437988	0.410000	0	2.700000e-01	5.900000e-01
FHL3	2275	broad.mit.edu	37	1	38463411	38463411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463411G>A	ENST00000373016.3	-	5	801	c.633C>T	c.(631-633)gcC>gcT	p.A211A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3			5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			CTCCAAAACAGGCCACACAGT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000373016.3	1	1	hg19	CCDS30678.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	0	0	0	11	312	0	82	0	9.184801e-01	0	126	0	82	2		0	0	0	0	0	2	1	9.982617e-01	10	308	0	81	2								-11.657170	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.360000	0.190000	0.600000	0.360000	0.385478	0.360000	0	2.700000e-01	4.900000e-01
FHL3	2275	broad.mit.edu	37	1	38463501	38463501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463501C>T	ENST00000373016.3	-	5	711	c.543G>A	c.(541-543)tgG>tgA	p.W181*	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3			5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			ATTCTCGATGCCACGGCTGAT	0.587000																								0							SO:0001587	stop_gained			ENST00000373016.3	0	1	hg19	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046342	0.93740	.	.	ENSG00000183386	ENST00000373016	.	.	.	5.01	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.132	0.65260	0.1508:0.8492:0.0:0.0	.	.	.	.	X	181	.	ENSP00000362107:W181X	W	-	3	0	FHL3	38236088	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.849000	0.62882	2.343000	0.79666	0.313000	0.20887	TGG		TCGA-IB-7651-01A-11D-2154-08	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	1	0	1	29	279	0	65	0	9.977538e-01	0	93	0	65	2		0	0	0	0	0	2	1	1	28	274	0	64	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.650000	1.000000	0.980000	0.873198	0.880000	1	7.700000e-01	9.700000e-01
UTP11L	51118	broad.mit.edu	37	1	38483358	38483358	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38483358A>C	ENST00000373014.4	+	3	205	c.144A>C	c.(142-144)caA>caC	p.Q48H	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)			5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			GTAAAAAACAAGAATACCTCA	0.348000																								0							SO:0001583	missense			ENST00000373014.4	1	1	hg19	CCDS429.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262537	0.59431	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.95	-2.18	0.07037	.	0.050202	0.85682	D	0.000000	T	0.75273	0.3827	M	0.91300	3.195	0.51767	D	0.999934	D	0.54397	0.966	P	0.60345	0.873	T	0.74022	-0.3798	9	0.72032	D	0.01	-0.1329	7.7131	0.28690	0.3306:0.0:0.5414:0.128	.	48	Q9Y3A2	UTP11_HUMAN	H	48	.	ENSP00000362105:Q48H	Q	+	3	2	UTP11L	38255945	1.000000	0.71417	0.965000	0.40720	0.707000	0.40811	0.854000	0.27791	-0.624000	0.05611	-1.937000	0.00501	CAA		TCGA-IB-7651-01A-11D-2154-08	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	1	0	1	30	189	0	63	1	9.999999e-01	42	132	0	63	2		0	0	0	0	0	2	1	1	30	185	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.770000	1.000000	0.990000	0.935240	0.940000	1	8.700000e-01	9.900000e-01
POU3F1	5453	broad.mit.edu	37	1	38511485	38511485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38511485G>A	ENST00000373012.2	-	1	965	c.931C>T	c.(931-933)Ccg>Tcg	p.P311S	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1			3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			TTGAGCAGCGGCTTGAGCTTG	0.637000																								0							SO:0001583	missense			ENST00000373012.2	0	1	hg19	CCDS30679.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566948	0.65651	.	.	ENSG00000185668	ENST00000373012	D	0.89875	-2.58	3.78	3.78	0.43462	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	U	0.000000	D	0.94384	0.8194	M	0.91196	3.185	0.54753	D	0.999985	D	0.56035	0.974	P	0.60173	0.87	D	0.95204	0.8319	10	0.62326	D	0.03	.	13.4986	0.61440	0.0:0.0:1.0:0.0	.	311	Q03052	PO3F1_HUMAN	S	311	ENSP00000362103:P311S	ENSP00000362103:P311S	P	-	1	0	POU3F1	38284072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.219000	0.78000	2.113000	0.64589	0.400000	0.26472	CCG		TCGA-IB-7651-01A-11D-2154-08	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1	0	0	0	6	256	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	9.642109e-01	6	253	0	49	2								-7.075697	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.250000	0.100000	0.480000	0.240000	0.274825	0.250000	0	1.600000e-01	3.700000e-01
GJA9	81025	broad.mit.edu	37	1	39340391	39340391	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39340391T>C	ENST00000360786.3	-	1	1632	c.1380A>G	c.(1378-1380)ggA>ggG	p.G460G	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Silent_p.G460G|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa			19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		ATTGAGAATCTCCTTGTGAAG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000360786.3	1	1	hg19	CCDS432.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	1	0	1	44	315	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	43	313	0	69	2								-18.022940	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.943944	0.950000	1	8.800000e-01	9.900000e-01
MACF1	23499	broad.mit.edu	37	1	39785375	39785375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39785375G>A	ENST00000372915.3	+	30	4087	c.4000G>A	c.(4000-4002)Gat>Aat	p.D1334N	MACF1_ENST00000564288.1_Missense_Mutation_p.D1329N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N|MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		GACAAAACTGGATCAATGTCA	0.368000																								0							SO:0001583	missense			ENST00000372915.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.348761|4.348761	0.82132|0.82132	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;T;T|.	0.36520|.	1.25;1.25;1.25;1.25;1.25;1.25;1.25|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|.	.|.	.|.	.|.	T|T	0.70254|0.70254	0.3203|0.3203	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.999;0.96;0.851|.	D;P;P|.	0.69479|.	0.964;0.737;0.493|.	T|T	0.64795|0.64795	-0.6323|-0.6323	9|5	0.87932|.	D|.	0|.	.|.	20.0165|20.0165	0.97478|0.97478	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1334;1334;1299|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	N|E	1334;1334;1334;1334;1334;1292;1483|467	ENSP00000439537:D1334N;ENSP00000362006:D1334N;ENSP00000354573:D1334N;ENSP00000313438:D1334N;ENSP00000444364:D1334N;ENSP00000435070:D1292N;ENSP00000437059:D1483N|.	ENSP00000313438:D1334N|.	D|G	+|+	1|2	0|0	MACF1|MACF1	39557962|39557962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	8.007000|8.007000	0.88571|0.88571	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	GAT|GGA		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1	33	273	0	47	0	8.696778e-01	1	31	0	47	2	1	1	26	345	0	311	2	1	1	33	268	0	47	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.720000	1.000000	0.990000	0.911467	0.920000	1	8.300000e-01	9.800000e-01
MACF1	23499	broad.mit.edu	37	1	39797612	39797612	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39797612T>C	ENST00000372915.3	+	36	5454	c.5367T>C	c.(5365-5367)ctT>ctC	p.L1789L	MACF1_ENST00000564288.1_Silent_p.L1784L|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		GACACAGACTTACAGTGGAAG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000372915.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0	21	314	0	73	0	2.568468e-01	0	15	0	73	2		0	0	0	0	0	2	1	9.999968e-01	21	301	0	73	2								-19.999980	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.660000	0.420000	0.920000	0.660000	0.675221	0.660000	0	5.300000e-01	8.100000e-01
MACF1	23499	broad.mit.edu	37	1	39798740	39798740	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39798740T>A	ENST00000372915.3	+	36	6582	c.6495T>A	c.(6493-6495)caT>caA	p.H2165Q	MACF1_ENST00000564288.1_Missense_Mutation_p.H2160Q|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		AGAAAGAACATCAACCTCTAA	0.433000																								0							SO:0001583	missense			ENST00000372915.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	0.026	-1.366911	0.01225	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60672	0.17;1.27	5.92	2.84	0.33178	.	1.286490	0.05217	N	0.507867	T	0.41766	0.1173	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.26395	-1.0104	10	0.20519	T	0.43	.	9.7105	0.40243	0.0:0.4105:0.43:0.1595	.	2165	Q9UPN3	MACF1_HUMAN	Q	2165;600	ENSP00000362006:H2165Q;ENSP00000289893:H600Q	ENSP00000289893:H600Q	H	+	3	2	MACF1	39571327	0.000000	0.05858	0.038000	0.18304	0.040000	0.13550	0.299000	0.19138	0.308000	0.22923	0.383000	0.25322	CAT		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0	20	274	0	64	0	2.091215e-01	0	12	0	64	2		0	0	0	0	0	2	1	9.999946e-01	19	267	0	63	2								-19.999980	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.710000	0.450000	0.960000	0.710000	0.719396	0.710000	0	5.700000e-01	8.600000e-01
MACF1	23499	broad.mit.edu	37	1	39799004	39799004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799004C>T	ENST00000372915.3	+	36	6846	c.6759C>T	c.(6757-6759)aaC>aaT	p.N2253N	MACF1_ENST00000564288.1_Silent_p.N2248N|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.N2285N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		AAGCACAGAACATCGCAGGTG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000372915.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0	17	438	0	80	0	9.296077e-02	0	13	0	80	2		0	0	0	0	0	2	1	9.999564e-01	16	425	0	80	2								-16.385800	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.400000	0.240000	0.600000	0.390000	0.414911	0.400000	0	3.100000e-01	5.100000e-01
MACF1	23499	broad.mit.edu	37	1	39799706	39799706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799706G>A	ENST00000372915.3	+	36	7548	c.7461G>A	c.(7459-7461)caG>caA	p.Q2487Q	MACF1_ENST00000564288.1_Silent_p.Q2482Q|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CAGTTGTGCAGTCCATTGACA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000372915.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	1	140	573	0	154	0	8.733425e-01	0	17	0	154	2		0	0	0	0	0	2	1	1	135	563	0	152	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991608	0.990000	1	9.700000e-01	1
MACF1	23499	broad.mit.edu	37	1	39801495	39801495	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39801495C>A	ENST00000372915.3	+	36	9337	c.9250C>A	c.(9250-9252)Ctc>Atc	p.L3084I	MACF1_ENST00000564288.1_Missense_Mutation_p.L3079I|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	p.L1519I(1)		203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CAATTTAAGTCTCTGCTTGAC	0.403000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000372915.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	2.677	-0.276160	0.05679	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.71222	-0.55;0.35	5.23	-0.429	0.12303	.	1.243890	0.05633	N	0.582132	T	0.51329	0.1668	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.39231	-0.9624	10	0.54805	T	0.06	.	1.3539	0.02178	0.2044:0.3456:0.2775:0.1725	.	3084	Q9UPN3	MACF1_HUMAN	I	3084;1519	ENSP00000362006:L3084I;ENSP00000289893:L1519I	ENSP00000289893:L1519I	L	+	1	0	MACF1	39574082	0.000000	0.05858	0.161000	0.22692	0.302000	0.27658	-0.371000	0.07513	-0.039000	0.13602	-0.257000	0.10917	CTC		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0	26	271	0	70	0	3.632678e-01	0	14	0	70	2		0	0	0	0	0	2	1	9.999999e-01	25	266	0	70	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.850000	0.600000	0.990000	0.910000	0.843802	0.850000	1	7.200000e-01	9.500000e-01
MACF1	23499	broad.mit.edu	37	1	39826503	39826503	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826503C>A	ENST00000372915.3	+	47	12385	c.12298C>A	c.(12298-12300)Ctg>Atg	p.L4100M	MACF1_ENST00000564288.1_Missense_Mutation_p.L4095M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M|MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CTCCTATAGCCTGGCTGAGCG	0.448000																								0							SO:0001583	missense			ENST00000372915.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.28|11.28	1.593516|1.593516	0.28357|0.28357	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64|.	5.8|5.8	1.02|1.02	0.19986|0.19986	.|.	0.136619|.	0.30940|.	N|.	0.008565|.	T|T	0.20536|0.20536	0.0494|0.0494	N|N	0.04043|0.04043	-0.29|-0.29	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.41597|.	0.756;0.109;0.097;0.041|.	P;B;B;B|.	0.51016|.	0.656;0.061;0.055;0.059|.	T|T	0.04017|0.04017	-1.0984|-1.0984	10|5	0.45353|.	T|.	0.12|.	.|.	4.1057|4.1057	0.10035|0.10035	0.2912:0.4006:0.0:0.3082|0.2912:0.4006:0.0:0.3082	.|.	4100;2033;2033;1998|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2033;4100;2033;2033;2033;2535|1166	ENSP00000439537:L2033M;ENSP00000362006:L4100M;ENSP00000354573:L2033M;ENSP00000313438:L2033M;ENSP00000444364:L2033M;ENSP00000289893:L2535M|.	ENSP00000289893:L2535M|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39599090|39599090	0.990000|0.990000	0.36364|0.36364	0.800000|0.800000	0.32199|0.32199	0.942000|0.942000	0.58702|0.58702	1.718000|1.718000	0.38001|0.38001	0.211000|0.211000	0.20683|0.20683	0.563000|0.563000	0.77884|0.77884	CTG|CCT		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1	27	202	0	50	1	9.940465e-01	4	59	0	50	2	1	1	47	371	0	452	2	1	1	27	197	0	49	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.720000	1.000000	0.990000	0.913111	0.920000	1	8.300000e-01	9.800000e-01
MACF1	23499	broad.mit.edu	37	1	39826575	39826575	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826575C>A	ENST00000372915.3	+	47	12457	c.12370C>A	c.(12370-12372)Ctg>Atg	p.L4124M	MACF1_ENST00000564288.1_Missense_Mutation_p.L4119M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M|MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CCTGGAGAGCCTGTTGCAGTC	0.507000																								0							SO:0001583	missense			ENST00000372915.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.46|10.46	1.356181|1.356181	0.24598|0.24598	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91|.	5.62|5.62	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.46145|.	D|.	0.000302|.	T|T	0.40839|0.40839	0.1133|0.1133	N|N	0.26042|0.26042	0.785|0.785	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.76494|.	0.998;0.542;0.999;0.678|.	D;B;D;P|.	0.85130|.	0.99;0.396;0.997;0.674|.	T|T	0.09530|0.09530	-1.0670|-1.0670	10|5	0.27785|.	T|.	0.31|.	.|.	7.468|7.468	0.27332|0.27332	0.0:0.5743:0.0:0.4257|0.0:0.5743:0.0:0.4257	.|.	4124;2057;2057;2022|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	2057;4124;2057;2057;2057;2559|1190	ENSP00000439537:L2057M;ENSP00000362006:L4124M;ENSP00000354573:L2057M;ENSP00000313438:L2057M;ENSP00000444364:L2057M;ENSP00000289893:L2559M|.	ENSP00000289893:L2559M|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39599162|39599162	0.015000|0.015000	0.18098|0.18098	0.987000|0.987000	0.45799|0.45799	0.246000|0.246000	0.25737|0.25737	0.167000|0.167000	0.16602|0.16602	0.603000|0.603000	0.29913|0.29913	0.563000|0.563000	0.77884|0.77884	CTG|CCT		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1	25	203	0	58	1	9.962223e-01	8	66	0	58	2	1	1	70	679	0	757	2	1	9.999999e-01	25	200	0	58	2								-11.376070	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.680000	1.000000	0.990000	0.897145	0.910000	1	8.000000e-01	9.800000e-01
MACF1	23499	broad.mit.edu	37	1	39851413	39851413	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851413T>C	ENST00000372915.3	+	56	14258	c.14171T>C	c.(14170-14172)gTa>gCa	p.V4724A	MACF1_ENST00000564288.1_Missense_Mutation_p.V4719A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A|MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CCAGAGGCTGTAAAGCAGCAA	0.517000																								0							SO:0001583	missense			ENST00000372915.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	27.6	4.846298	0.91277	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	T	0.58538	0.2129	M	0.63843	1.955	0.49798	D	0.999821	D;D;D	0.65815	0.995;0.958;0.958	D;P;P	0.71184	0.972;0.747;0.761	T	0.60601	-0.7231	10	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	4724;2657;2601	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	A	2657;4724;2657;2657;2636;3159	ENSP00000439537:V2657A;ENSP00000362006:V4724A;ENSP00000354573:V2657A;ENSP00000313438:V2657A;ENSP00000444364:V2636A;ENSP00000289893:V3159A	ENSP00000289893:V3159A	V	+	2	0	MACF1	39624000	1.000000	0.71417	0.968000	0.41197	0.909000	0.53808	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	GTA		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1	57	219	0	53	1	9.999995e-01	11	75	0	53	2	1	1	157	531	0	774	2	1	1	54	215	0	53	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977221	0.980000	1	9.400000e-01	1
MACF1	23499	broad.mit.edu	37	1	39851459	39851459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851459G>A	ENST00000372915.3	+	56	14304	c.14217G>A	c.(14215-14217)gaG>gaA	p.E4739E	MACF1_ENST00000564288.1_Silent_p.E4734E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000361689.2_Silent_p.E2672E|MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000545844.1_Silent_p.E2672E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CTGACTTGGAGCAGTTAGACC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000372915.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.865	0.528900	0.13127	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.06	-0.123	0.13527	.	.	.	.	.	T	0.57373	0.2049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50372	-0.8836	4	.	.	.	.	10.0573	0.42252	0.4608:0.0:0.5392:0.0	.	.	.	.	T	1785	.	.	A	+	1	0	MACF1	39624046	1.000000	0.71417	0.633000	0.29310	0.841000	0.47740	1.693000	0.37742	-0.262000	0.09392	-0.136000	0.14681	GCA		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	0	15	300	0	68	1	8.833089e-01	2	75	0	68	2	1	9.999997e-01	31	588	0	676	2	1	9.998559e-01	15	292	0	67	2								-4.830621	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.510000	0.300000	0.780000	0.500000	0.526062	0.510000	0	3.900000e-01	6.500000e-01
MACF1	23499	broad.mit.edu	37	1	39896528	39896528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39896528C>A	ENST00000372915.3	+	64	17060	c.16973C>A	c.(16972-16974)aCt>aAt	p.T5658N	MACF1_ENST00000564288.1_Missense_Mutation_p.T5762N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N|MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		GTCAGTGACACTATTGGACAA	0.438000																								0							SO:0001583	missense			ENST00000372915.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265183|4.265183	0.80358|0.80358	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.35421	.|1.32;1.31;1.32;1.31;1.32;1.32	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.088123	.|0.49305	.|D	.|0.000148	T|T	0.51329|0.51329	0.1668|0.1668	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53151	.|0.942;0.958;0.928	.|P;P;P	.|0.54346	.|0.561;0.749;0.614	T|T	0.47484|0.47484	-0.9114|-0.9114	5|10	.|0.56958	.|D	.|0.05	.|.	19.9093|19.9093	0.97021|0.97021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5658;3700;3644	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	Q|N	2703|3700;5658;3700;3700;3570;4202	.|ENSP00000439537:T3700N;ENSP00000362006:T5658N;ENSP00000354573:T3700N;ENSP00000313438:T3700N;ENSP00000444364:T3570N;ENSP00000289893:T4202N	.|ENSP00000289893:T4202N	H|T	+|+	3|2	2|0	MACF1|MACF1	39669115|39669115	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	3.956000|3.956000	0.56722|0.56722	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	CAC|ACT		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1	20	292	0	83	1	9.997014e-01	23	170	0	83	2	1	1	81	600	0	664	2	1	9.999948e-01	19	286	0	81	2								-6.540755	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.670000	0.430000	0.940000	0.670000	0.687143	0.670000	0	5.400000e-01	8.200000e-01
MACF1	23499	broad.mit.edu	37	1	39904950	39904950	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39904950C>A	ENST00000372915.3	+	71	18009	c.17922C>A	c.(17920-17922)atC>atA	p.I5974I	MACF1_ENST00000564288.1_Silent_p.I6075I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000361689.2_Silent_p.I4016I|MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000545844.1_Silent_p.I4016I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CCTCAGAAATCCAGGATAAAT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000372915.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	8.826	0.938741	0.18206	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.86	2.75	0.32379	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	9.3164	0.37937	0.3003:0.633:0.0:0.0668	.	.	.	.	T	3020	.	.	P	+	1	0	MACF1	39677537	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.510000	0.22723	0.256000	0.21614	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	0	11	124	0	29	1	9.998408e-01	30	162	0	29	2	1	4.656969e-01	3	15	0	18	2	1	9.982959e-01	11	120	0	27	2								-6.381937	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.770000	0.440000	0.990000	0.820000	0.762817	0.770000	0	5.900000e-01	9.200000e-01
MACF1	23499	broad.mit.edu	37	1	39910396	39910396	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39910396A>G	ENST00000372915.3	+	79	19278	c.19191A>G	c.(19189-19191)agA>agG	p.R6397R	MACF1_ENST00000564288.1_Silent_p.R6498R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000361689.2_Silent_p.R4439R|MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000545844.1_Silent_p.R4439R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		ACAAGGGCAGACTCATGCTTC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000372915.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.48	1.362540	0.24684	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.16	1.01	0.19927	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	9.8307	0.40939	0.3494:0.0:0.6506:0.0	.	.	.	.	A	3443	.	.	T	+	1	0	MACF1	39682983	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	0.996000	0.29719	-0.059000	0.13154	-0.248000	0.11899	ACT		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1	29	219	0	63	1	1	42	208	0	63	2	1	1	26	324	0	357	2	1	1	29	216	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.916332	0.920000	1	8.300000e-01	9.800000e-01
MACF1	23499	broad.mit.edu	37	1	39926355	39926355	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39926355C>T	ENST00000372915.3	+	91	21196	c.21109C>T	c.(21109-21111)Cgt>Tgt	p.R7037C	MACF1_ENST00000564288.1_Missense_Mutation_p.R7138C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		AAAGTATATGCGTTGGATGAA	0.398000																								0							SO:0001583	missense			ENST00000372915.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.354817|5.354817	0.95854|0.95854	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.08282	.|3.11;3.11;3.11;3.11;3.11;3.11	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.31040|0.31040	0.0784|0.0784	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	T|T	0.00173|0.00173	-1.1957|-1.1957	5|9	.|.	.|.	.|.	.|.	20.0695|20.0695	0.97716|0.97716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|7037;5079	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	V|C	4082;60|5079;7037;5079;5079;4949;5581	.|ENSP00000439537:R5079C;ENSP00000362006:R7037C;ENSP00000354573:R5079C;ENSP00000313438:R5079C;ENSP00000444364:R4949C;ENSP00000289893:R5581C	.|.	A|R	+|+	2|1	0|0	MACF1|MACF1	39698942|39698942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.081000|6.081000	0.71309|0.71309	2.761000|2.761000	0.94854|0.94854	0.585000|0.585000	0.79938|0.79938	GCG|CGT		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1	112	441	0	130	1	1	109	220	0	130	2	1	1	83	305	0	360	2	1	1	111	433	0	130	2								-20.000000	1	1	121412	3	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989298	0.980000	1	9.700000e-01	1
MACF1	23499	broad.mit.edu	37	1	39945590	39945590	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39945590C>A	ENST00000372915.3	+	95	21776	c.21689C>A	c.(21688-21690)tCc>tAc	p.S7230Y	MACF1_ENST00000564288.1_Missense_Mutation_p.S7360Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S5272Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CGGGCAGCTTCCCCTACTCGT	0.552000																								0							SO:0001583	missense			ENST00000372915.3	0	1	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	33|33|33	5.272131|5.272131|5.272131	0.95429|0.95429|0.95429	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000360115;ENST00000442046|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218;ENST00000422234	.|.|T;T;T;T;T;T	.|.|0.70164	.|.|-0.42;-0.31;-0.42;-0.46;-0.25;0.75	5.81|5.81|5.81	5.81|5.81|5.81	0.92471|0.92471|0.92471	.|.|.	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000014	T|T|T	0.81029|0.81029|0.81029	0.4738|0.4738|0.4738	M|M|M	0.64997|0.64997|0.64997	1.995|1.995|1.995	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D	.|.|0.76494	.|.|0.998;0.996;0.999;0.998;0.999;0.998	.|.|D;D;D;D;D;D	.|.|0.87578	.|.|0.997;0.967;0.998;0.992;0.996;0.997	T|T|T	0.78650|0.78650|0.78650	-0.2121|-0.2121|-0.2121	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	20.0628|20.0628|20.0628	0.97684|0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|7230;5272;4275;63;5780;172	.|.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|T|Y	4275;259|385;173|5272;7230;5272;5272;5142;5780;149;134	.|.|ENSP00000439537:S5272Y;ENSP00000362006:S7230Y;ENSP00000354573:S5272Y;ENSP00000313438:S5272Y;ENSP00000444364:S5142Y;ENSP00000289893:S5780Y	.|.|.	F|P|S	+|+|+	3|1|2	2|0|0	MACF1|MACF1|MACF1	39718177|39718177|39718177	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	7.425000|7.425000|7.425000	0.80255|0.80255|0.80255	2.745000|2.745000|2.745000	0.94114|0.94114|0.94114	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CCC|TCC		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0	7	296	0	51	1	9.949987e-01	14	409	0	51	2	1	9.999370e-01	13	974	0	1053	2	1	9.792620e-01	7	289	0	51	2								-3.656440	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.250000	0.110000	0.470000	0.240000	0.273279	0.250000	0	1.700000e-01	3.600000e-01
MACF1	23499	broad.mit.edu	37	1	39950279	39950279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39950279C>T	ENST00000372915.3	+	96	21874	c.21787C>T	c.(21787-21789)Cca>Tca	p.P7263S	MACF1_ENST00000564288.1_Missense_Mutation_p.P7430S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		TAAGGTTATCCCATCATCAGG	0.388000																								0							SO:0001583	missense			ENST00000372915.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.651|8.651	0.898360|0.898360	0.17686|0.17686	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	.|T;T;T;T;T;T	.|0.67171	.|-0.22;-0.11;-0.22;-0.25;-0.07;0.95	6.03|6.03	0.848|0.848	0.18966|0.18966	.|.	0.326671|0.326671	0.26915|0.26915	N|N	0.021858|0.021858	T|T	0.57315|0.57315	0.2045|0.2045	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.20261	.|0.005;0.0;0.0;0.043;0.043;0.002	.|B;B;B;B;B;B	.|0.17433	.|0.009;0.001;0.001;0.018;0.014;0.011	T|T	0.44513|0.44513	-0.9323|-0.9323	6|9	.|.	.|.	.|.	.|.	8.3126|8.3126	0.32080|0.32080	0.0:0.6324:0.1095:0.2581|0.0:0.6324:0.1095:0.2581	.|.	.|7263;5305;4308;133;5813;242	.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	L|S	4308;329|5305;7263;5305;5305;5175;5813;219	.|ENSP00000439537:P5305S;ENSP00000362006:P7263S;ENSP00000354573:P5305S;ENSP00000313438:P5305S;ENSP00000444364:P5175S;ENSP00000289893:P5813S	.|.	P|P	+|+	2|1	0|0	MACF1|MACF1	39722866|39722866	0.708000|0.708000	0.27876|0.27876	0.960000|0.960000	0.40013|0.40013	0.750000|0.750000	0.42670|0.42670	1.005000|1.005000	0.29834|0.29834	-0.058000|-0.058000	0.13177|0.13177	-0.797000|-0.797000	0.03246|0.03246	CCC|CCA		TCGA-IB-7651-01A-11D-2154-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0	43	465	0	128	1	1	56	376	0	128	2	1	1	54	508	0	507	2	1	1	41	455	0	125	2								-3.017764	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.860000	0.650000	0.990000	0.890000	0.856996	0.860000	1	7.500000e-01	9.500000e-01
HPCAL4	51440	broad.mit.edu	37	1	40150155	40150155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40150155C>T	ENST00000372844.3	-	2	512	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4			8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		TTGAGGATGCCGCTGGGGCAG	0.622000																								0							SO:0001583	missense			ENST00000372844.3	1	1	hg19	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704217	0.96812	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.79247	-1.25	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	H	0.98048	4.135	0.80722	D	1	P;D	0.89917	0.691;1.0	B;D	0.78314	0.195;0.991	D	0.95576	0.8642	10	0.87932	D	0	.	17.8549	0.88760	0.0:1.0:0.0:0.0	.	41;41	B4DGW9;Q9UM19	.;HPCL4_HUMAN	S	41;33	ENSP00000361935:G41S	ENSP00000361935:G41S	G	-	1	0	HPCAL4	39922742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.378000	0.81104	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	1	0	0	13	121	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	9.995140e-01	12	117	0	34	2								-19.200610	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.520000	0.990000	0.980000	0.823421	0.840000	0	6.800000e-01	9.500000e-01
BMP8B	656	broad.mit.edu	37	1	40229424	40229424	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40229424C>T	ENST00000372827.3	-	5	1283	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q|PPIE_ENST00000372830.1_3'UTR|PPIE_ENST00000356511.2_3'UTR	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b			4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		GAGCTCGTGCCGACGGCAGAC	0.557000																								0							SO:0001583	missense			ENST00000372827.3	1	1	hg19	CCDS444.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611999	0.87258	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	D;D	0.90069	-2.61;-2.45	4.02	4.02	0.46733	Transforming growth factor-beta, C-terminal (3);	0.235955	0.40908	U	0.000982	D	0.96194	0.8759	H	0.96943	3.91	0.39632	D	0.970188	D;D	0.89917	1.0;1.0	D;D	0.72338	0.943;0.977	D	0.98128	1.0429	10	0.72032	D	0.01	.	15.4955	0.75646	0.0:1.0:0.0:0.0	.	328;303	E7EMY8;P34820	.;BMP8B_HUMAN	Q	303;328	ENSP00000361915:R303Q;ENSP00000380518:R328Q	ENSP00000361915:R303Q	R	-	2	0	BMP8B	40002011	0.961000	0.32948	0.989000	0.46669	0.997000	0.91878	3.414000	0.52693	2.249000	0.74217	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	1	0	0	52	499	0	74	1	9.446048e-01	9	39	0	74	2		0	0	0	0	0	2	1	1	51	486	0	75	2								-3.017764	1	1	121386	1	33	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.730000	1.000000	0.990000	0.905807	0.910000	1	8.200000e-01	9.800000e-01
TRIT1	54802	broad.mit.edu	37	1	40309819	40309819	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40309819C>A	ENST00000316891.5	-	10	1202	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000441669.2_Silent_p.L314L|TRIT1_ENST00000537223.1_Silent_p.L92L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1			15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		AGAGGTCACACAGGTGATAAC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000316891.5	1	1	hg19	CCDS30681.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	1	0	1	35	312	0	87	1	9.803963e-01	10	48	0	87	2		0	0	0	0	0	2	1	1	35	304	0	87	2								-3.221884	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.700000	1.000000	0.990000	0.901697	0.910000	1	8.100000e-01	9.800000e-01
RLF	6018	broad.mit.edu	37	1	40702892	40702892	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40702892C>A	ENST00000372771.4	+	8	2545	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion			68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		ATCAGTGAAACTTGAGGAGTC	0.348000																								0							SO:0001583	missense			ENST00000372771.4	1	1	hg19	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	1.635	-0.518082	0.04171	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15372	2.43	5.65	3.72	0.42706	.	0.431666	0.27586	N	0.018704	T	0.12178	0.0296	L	0.38838	1.175	0.28583	N	0.910047	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.13629	-1.0502	10	0.22706	T	0.39	-3.5999	8.1302	0.31022	0.0:0.733:0.1318:0.1352	.	533;840	F5H2M5;Q13129	.;RLF_HUMAN	I	840;533	ENSP00000361857:L840I	ENSP00000361857:L840I	L	+	1	0	RLF	40475479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.488000	0.35551	1.586000	0.49944	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	1	0	1	41	174	0	44	1	9.892419e-01	9	24	0	44	2		0	0	0	0	0	2	1	1	40	173	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.965722	0.970000	1	9.200000e-01	1
TMCO2	127391	broad.mit.edu	37	1	40713707	40713707	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40713707G>A	ENST00000372766.3	+	1	135	c.42G>A	c.(40-42)gaG>gaA	p.E14E	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2			6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		ACCTCTTAGAGTCTCTCTCTC	0.403000																								0							SO:0001819	synonymous_variant			ENST00000372766.3	1	0	hg19	CCDS30684.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	1	0	1	207	750	0	170		0	0	0	0	170	2		0	0	0	0	0	2	1	1	202	632	0	145	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.970000	1.000000	1.000000	0.995424	0.990000	1	9.800000e-01	1
TMCO2	127391	broad.mit.edu	37	1	40716992	40716992	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40716992A>G	ENST00000372766.3	+	2	368	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2			6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		TACAAACTTTACAAGAAGGGC	0.368000																								0							SO:0001583	missense			ENST00000372766.3	1	1	hg19	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535742	0.64972	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.24	5.24	0.73138	.	0.000000	0.49916	D	0.000124	T	0.60856	0.2301	L	0.32530	0.975	0.36795	D	0.885068	D	0.89917	1.0	D	0.91635	0.999	T	0.68918	-0.5282	9	0.87932	D	0	-9.6777	11.454	0.50169	1.0:0.0:0.0:0.0	.	92	Q7Z6W1	TMCO2_HUMAN	C	92	.	ENSP00000361852:Y92C	Y	+	2	0	TMCO2	40489579	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.007000	0.57093	2.202000	0.70862	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	1	0	1	73	284	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	72	281	0	81	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982505	0.980000	1	9.500000e-01	1
ZMPSTE24	10269	broad.mit.edu	37	1	40735717	40735717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40735717C>A	ENST00000372759.3	+	5	710	c.545C>A	c.(544-546)tCt>tAt	p.S182Y		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24			16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		TTGCCTGTGTCTTCACTTCTA	0.338000																								0							SO:0001583	missense			ENST00000372759.3	1	1	hg19	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230167	0.58777	.	.	ENSG00000084073	ENST00000372759	D	0.82619	-1.63	5.66	4.69	0.59074	.	0.151556	0.64402	D	0.000016	T	0.77818	0.4187	L	0.29908	0.895	0.49051	D	0.999745	B	0.29886	0.26	B	0.35859	0.212	T	0.76642	-0.2884	10	0.45353	T	0.12	-9.9802	16.0844	0.81031	0.0:0.8661:0.1339:0.0	.	182	O75844	FACE1_HUMAN	Y	182	ENSP00000361845:S182Y	ENSP00000361845:S182Y	S	+	2	0	ZMPSTE24	40508304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.542000	0.60677	2.654000	0.90174	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1	1	0	1	209	722	0	150	1	1	42	70	0	150	2		0	0	0	0	0	2	1	1	206	704	1	150	20								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.970000	1.000000	1.000000	0.995638	0.990000	1	9.800000e-01	1
ZMPSTE24	10269	broad.mit.edu	37	1	40747106	40747106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40747106C>A	ENST00000372759.3	+	7	1026	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24			16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		TAGAAGAGTACTCTGTACTAA	0.393000																								0							SO:0001587	stop_gained			ENST00000372759.3	0	1	hg19	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	37	6.521541	0.97633	.	.	ENSG00000084073	ENST00000372759	.	.	.	5.46	3.47	0.39725	.	0.054788	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.4102	6.7743	0.23611	0.0:0.5632:0.0:0.4368	.	.	.	.	X	287	.	ENSP00000361845:Y287X	Y	+	3	2	ZMPSTE24	40519693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.877000	0.39598	0.551000	0.29008	0.655000	0.94253	TAC		TCGA-IB-7651-01A-11D-2154-08	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1	1	0	1	53	383	0	79	1	9.999947e-01	2	127	0	79	2		0	0	0	0	0	2	1	1	53	381	0	79	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.951210	0.950000	1	9.000000e-01	9.900000e-01
SMAP2	64744	broad.mit.edu	37	1	40874336	40874336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40874336G>A	ENST00000539317.1	+	3	202	c.9G>A	c.(7-9)gaG>gaA	p.E3E		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2			24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		GCATGCAAGAGATGGGAAATG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000539317.1	1	1	hg19	CCDS55593.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	18	331	0	85	1	9.999916e-01	4	372	0	85	2		0	0	0	0	0	2	1	9.999797e-01	18	323	0	85	2								-19.505290	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.550000	0.340000	0.810000	0.540000	0.565712	0.550000	0	4.300000e-01	6.800000e-01
NFYC	4802	broad.mit.edu	37	1	41223914	41223914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41223914C>T	ENST00000308733.5	+	5	515	c.509C>T	c.(508-510)aCg>aTg	p.T170M	NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M|NFYC_ENST00000456393.2_Missense_Mutation_p.T170M|NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma			15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		ACCAGCTCCACGACCACCATC	0.617000																								0							SO:0001583	missense			ENST00000308733.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.5	4.162681	0.78226	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T	0.43688	1.0;1.0;1.0;1.0;1.0;0.94;1.0;1.0;1.0;1.0;1.5;1.0	5.6	5.6	0.85130	.	0.094419	0.64402	D	0.000001	T	0.56124	0.1964	L	0.36672	1.1	0.54753	D	0.999982	D;D;D;D;D;D;D;D	0.89917	0.99;0.997;1.0;0.983;1.0;0.99;0.99;1.0	P;P;D;B;D;P;P;D	0.79784	0.725;0.855;0.926;0.321;0.951;0.725;0.725;0.993	T	0.56426	-0.7981	10	0.62326	D	0.03	.	17.0961	0.86635	0.0:1.0:0.0:0.0	.	132;76;170;170;170;170;170;170	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	M	132;170;170;170;68;68;170;170;170;170;170;170;138;170	ENSP00000408315:T132M;ENSP00000404427:T170M;ENSP00000396620:T170M;ENSP00000408867:T170M;ENSP00000361738:T170M;ENSP00000361737:T170M;ENSP00000361754:T170M;ENSP00000361736:T170M;ENSP00000361734:T170M;ENSP00000414299:T170M;ENSP00000409219:T138M;ENSP00000312617:T170M	ENSP00000312617:T170M	T	+	2	0	NFYC	40996501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.653000	0.90120	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	1	0	0	9	194	0	46	1	9.946568e-01	12	192	0	46	2		0	0	0	0	0	2	1	9.941447e-01	9	191	0	44	2								-11.316710	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.470000	0.230000	0.800000	0.460000	0.498246	0.470000	0	3.400000e-01	6.400000e-01
KCNQ4	9132	broad.mit.edu	37	1	41284339	41284339	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41284339A>G	ENST00000347132.5	+	4	777	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4			26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)	Ezogabine(DB04953)	TCAGTGGTCTACGCGCATAGC	0.711000																								0							SO:0001583	missense			ENST00000347132.5	1	1	hg19	CCDS456.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370694	0.42003	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98493	-4.96;-4.96	5.04	2.66	0.31614	Ion transport (1);	0.229388	0.37623	N	0.002018	D	0.97430	0.9159	L	0.43646	1.37	0.58432	D	0.99999	B;D	0.69078	0.361;0.997	B;D	0.63113	0.275;0.911	D	0.95141	0.8264	10	0.33940	T	0.23	-8.7373	8.8674	0.35294	0.7028:0.0:0.0:0.2972	.	232;232	P56696-2;P56696	.;KCNQ4_HUMAN	C	232	ENSP00000262916:Y232C;ENSP00000423756:Y232C	ENSP00000262916:Y232C	Y	+	2	0	KCNQ4	41056926	1.000000	0.71417	0.950000	0.38849	0.971000	0.66376	5.921000	0.70028	0.359000	0.24239	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	1	0	0	18	64	0	15	0	1.336721e-01	0	3	0	15	2		0	0	0	0	0	2	1	9.999874e-01	17	61	0	14	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.750000	1.000000	0.990000	0.932577	0.940000	1	8.600000e-01	9.900000e-01
SLFNL1	200172	broad.mit.edu	37	1	41482929	41482929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41482929C>T	ENST00000359345.1	-	3	3654	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|SLFNL1_ENST00000439569.2_Missense_Mutation_p.A360T|SLFNL1_ENST00000397197.2_Intron|SLFNL1_ENST00000372613.2_Intron|SLFNL1_ENST00000302946.8_Missense_Mutation_p.A360T	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1			10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)			TCCTGGATGGCGCTGGCAGAC	0.682000																								0							SO:0001583	missense			ENST00000359345.1	0	1	hg19	CCDS460.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	26.7	4.758338	0.89843	.	.	ENSG00000171790	ENST00000302946;ENST00000372611;ENST00000359345;ENST00000439569	T;T;T;T	0.27402	1.67;1.8;1.67;1.67	5.57	5.57	0.84162	.	0.000000	0.52532	D	0.000073	T	0.42517	0.1206	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.64506	0.926;0.565	T	0.12785	-1.0534	10	0.42905	T	0.14	-35.7209	15.047	0.71835	0.0:1.0:0.0:0.0	.	301;360	Q499Z3-2;Q499Z3	.;SLNL1_HUMAN	T	360;301;360;360	ENSP00000304401:A360T;ENSP00000361694:A301T;ENSP00000352299:A360T;ENSP00000398938:A360T	ENSP00000304401:A360T	A	-	1	0	SLFNL1	41255516	0.980000	0.34600	0.960000	0.40013	0.876000	0.50452	2.561000	0.45905	2.619000	0.88677	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	0	0	0	10	51	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.972531e-01	10	49	0	17	2								-18.724920	1	1	121140	15	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.590000	1.000000	0.990000	0.872423	0.890000	1	7.500000e-01	9.800000e-01
HIVEP3	59269	broad.mit.edu	37	1	41976832	41976832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41976832G>A	ENST00000372583.1	-	9	7396	c.6511C>T	c.(6511-6513)Cgg>Tgg	p.R2171W	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R2170W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3			85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)			TCCTCTGTCCGGGCCAGGATG	0.637000																								0							SO:0001583	missense			ENST00000372583.1	1	1	hg19	CCDS463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.05	2.717244	0.48622	0.0	1.16E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.27;3.26;3.26;3.27	4.94	3.99	0.46301	.	0.000000	0.43416	D	0.000575	T	0.12390	0.0301	L	0.29908	0.895	0.31181	N	0.702082	D;D	0.71674	0.998;0.997	P;P	0.56751	0.805;0.644	T	0.02505	-1.1149	10	0.56958	D	0.05	-9.1919	9.1971	0.37235	0.0:0.1599:0.6746:0.1654	.	2170;2171	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	2170;2171;2171;2170	ENSP00000361665:R2170W;ENSP00000361664:R2171W;ENSP00000247584:R2171W;ENSP00000410828:R2170W	ENSP00000247584:R2171W	R	-	1	2	HIVEP3	41749419	1.000000	0.71417	0.983000	0.44433	0.342000	0.28953	3.272000	0.51616	1.243000	0.43853	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	0	0	0	11	327	0	62	0	5.801724e-02	1	10	0	62	2		0	0	0	0	0	2	1	9.980788e-01	11	316	0	61	2								-2.641271	1	1	121396	6	40	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.350000	0.180000	0.580000	0.340000	0.368982	0.350000	0	2.600000e-01	4.700000e-01
HIVEP3	59269	broad.mit.edu	37	1	41990569	41990569	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41990569G>A	ENST00000372583.1	-	6	6105	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	HIVEP3_ENST00000372584.1_Silent_p.N1740N|HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000247584.5_Silent_p.N1740N|HIVEP3_ENST00000460604.1_Intron	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3			85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)			CATACTCTTCGTTTGATTTGT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000372583.1	1	1	hg19	CCDS463.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	1	0	1	38	270	0	62	0	4.429001e-02	0	3	0	62	2		0	0	0	0	0	2	1	1	38	262	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.937623	0.940000	1	8.700000e-01	9.900000e-01
HIVEP3	59269	broad.mit.edu	37	1	42045931	42045931	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42045931G>T	ENST00000372583.1	-	4	5423	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1513H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3			85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)			AGGGAGGGGAGGAATTTCCTT	0.557000																								0							SO:0001583	missense			ENST00000372583.1	1	1	hg19	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143199	0.01728	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	5.37	3.5	0.40072	.	0.685951	0.13398	N	0.390834	T	0.08133	0.0203	L	0.47716	1.5	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.29243	-1.0018	10	0.56958	D	0.05	-4.7047	4.9459	0.13989	0.0727:0.1269:0.5488:0.2516	.	1513;1513	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	1513	ENSP00000361665:P1513H;ENSP00000361664:P1513H;ENSP00000247584:P1513H;ENSP00000410828:P1513H	ENSP00000247584:P1513H	P	-	2	0	HIVEP3	41818518	0.993000	0.37304	0.007000	0.13788	0.263000	0.26337	1.773000	0.38563	0.830000	0.34757	-0.137000	0.14449	CCT		TCGA-IB-7651-01A-11D-2154-08	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	1	0	1	65	207	0	59	0	5.868613e-02	1	1	0	59	2		0	0	0	0	0	2	1	1	65	203	0	59	2								-4.602989	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982342	0.980000	1	9.500000e-01	1
HIVEP3	59269	broad.mit.edu	37	1	42048565	42048565	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42048565C>T	ENST00000372583.1	-	4	2789	c.1904G>A	c.(1903-1905)gGt>gAt	p.G635D	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G635D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3			85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)			TGTTTTCAAACCCTTCTTGGT	0.478000																								0							SO:0001583	missense			ENST00000372583.1	1	1	hg19	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884831	0.51908	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000057	T	0.37517	0.1006	L	0.36672	1.1	0.41696	D	0.989374	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.05386	-1.0888	10	0.37606	T	0.19	-12.2882	12.0853	0.53693	0.172:0.828:0.0:0.0	.	635;635	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	635	ENSP00000361665:G635D;ENSP00000361664:G635D;ENSP00000247584:G635D;ENSP00000410828:G635D	ENSP00000247584:G635D	G	-	2	0	HIVEP3	41821152	0.998000	0.40836	0.873000	0.34254	0.968000	0.65278	4.299000	0.59073	2.326000	0.78906	0.555000	0.69702	GGT		TCGA-IB-7651-01A-11D-2154-08	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	1	0	1	112	542	0	154	0	2.988919e-02	0	2	0	154	2		0	0	0	0	0	2	1	1	112	529	0	153	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.987035	0.980000	1	9.600000e-01	1
HIVEP3	59269	broad.mit.edu	37	1	42049369	42049369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049369C>T	ENST00000372583.1	-	4	1985	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R367H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3			85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)			CTCGCTTAAGCGGAGGGCCAG	0.552000																								0							SO:0001583	missense			ENST00000372583.1	1	1	hg19	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110022	0.77210	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.15	5.15	0.70609	.	0.000000	0.48767	D	0.000175	T	0.53932	0.1827	L	0.27053	0.805	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.57717	-0.7763	10	0.72032	D	0.01	-0.0331	18.4234	0.90600	0.0:1.0:0.0:0.0	.	367;367	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	367	ENSP00000361665:R367H;ENSP00000361664:R367H;ENSP00000247584:R367H;ENSP00000410828:R367H	ENSP00000247584:R367H	R	-	2	0	HIVEP3	41821956	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.932000	0.70121	2.689000	0.91719	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	1	0	1	92	337	0	103	1	5.403933e-01	3	5	0	103	2		0	0	0	0	0	2	1	1	87	328	0	100	2								-20.000000	1	1	121412	1	38	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.987153	0.980000	1	9.600000e-01	1
HIVEP3	59269	broad.mit.edu	37	1	42049542	42049542	+	Silent	SNP	G	G	A	rs35798350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049542G>A	ENST00000372583.1	-	4	1812	c.927C>T	c.(925-927)agC>agT	p.S309S	HIVEP3_ENST00000372584.1_Silent_p.S309S|HIVEP3_ENST00000429157.2_Silent_p.S309S|HIVEP3_ENST00000247584.5_Silent_p.S309S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3			85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)			TGTATAGCCCGCTGGAGAGAA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000372583.1	1	0	hg19	CCDS463.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	0	0	1	96	355	0	103	0	4.601830e-02	0	2	0	103	2		0	0	0	0	0	2	1	1	88	347	0	103	2								-1.958496	0	1	121410	886	62	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.987706	0.980000	1	9.600000e-01	1
FOXJ3	22887	broad.mit.edu	37	1	42744089	42744089	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42744089G>T	ENST00000372572.1	-	5	610	c.299C>A	c.(298-300)aCt>aAt	p.T100N	FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3			18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			TTCACTTAAAGTCATTTTCTT	0.358000																								0							SO:0001583	missense			ENST00000372572.1	1	1	hg19	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272096	0.80469	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.48	5.48	0.80851	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98459	1.0595	10	0.87932	D	0	.	16.8493	0.85989	0.0:0.0:1.0:0.0	.	100;100	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	N	100;100;100;100;100;100;57	ENSP00000361654:T100N;ENSP00000361653:T100N;ENSP00000354620:T100N;ENSP00000354449:T100N;ENSP00000439044:T100N;ENSP00000393408:T100N;ENSP00000403060:T57N	ENSP00000354620:T100N	T	-	2	0	FOXJ3	42516676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.574000	0.86865	0.455000	0.32223	ACT		TCGA-IB-7651-01A-11D-2154-08	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	1	0	1	43	398	0	79	1	9.920455e-01	10	61	0	79	2		0	0	0	0	0	2	1	1	41	393	0	79	2								-14.343660	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.905066	0.910000	1	8.200000e-01	9.800000e-01
RIMKLA	284716	broad.mit.edu	37	1	42875661	42875661	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42875661C>A	ENST00000431473.3	+	4	617	c.488C>A	c.(487-489)gCt>gAt	p.A163D		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A			13					AAAGGAAAAGCTGTTTTTCTG	0.468000																								0							SO:0001583	missense			ENST00000431473.3	1	1	hg19	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133153	0.77662	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.42	4.5	0.54988	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.052389	0.85682	D	0.000000	T	0.75525	0.3861	M	0.63843	1.955	0.80722	D	1	B	0.30542	0.284	P	0.47786	0.557	T	0.77043	-0.2734	9	0.72032	D	0.01	-35.7252	13.9526	0.64129	0.0:0.8467:0.1533:0.0	.	163	Q8IXN7	RIMKA_HUMAN	D	39;163	.	ENSP00000387064:A39D	A	+	2	0	RIMKLA	42648248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.478000	0.66806	1.256000	0.44068	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	1	0	1	150	624	0	176	1	9.716492e-01	19	7	0	176	2		0	0	0	0	0	2	1	1	148	609	0	175	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992194	0.990000	1	9.700000e-01	1
LEPRE1	64175	broad.mit.edu	37	1	43213012	43213012	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213012C>A	ENST00000296388.5	-	14	2037	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000236040.4_Missense_Mutation_p.K662N			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1			26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)		L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGTGACAGCCTTCACTCCAT	0.627000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000296388.5	0	1	hg19	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943455	0.53079	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.59906	0.23;0.23;0.23	5.27	5.27	0.74061	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.267222	0.42294	D	0.000724	T	0.47266	0.1436	N	0.25426	0.745	0.43719	D	0.996194	B;B;B	0.21147	0.052;0.011;0.036	B;B;B	0.17433	0.016;0.011;0.018	T	0.42361	-0.9456	10	0.52906	T	0.07	-35.5553	16.4003	0.83639	0.0:1.0:0.0:0.0	.	662;527;662	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	N	662;662;662;527	ENSP00000380245:K662N;ENSP00000236040:K662N;ENSP00000296388:K662N	ENSP00000236040:K662N	K	-	3	2	LEPRE1	42985599	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.479000	0.22228	2.466000	0.83321	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	0	0	1	45	325	1	73	1	9.974304e-01	12	186	1	73	11		0	0	0	0	0	2	1	9.999319e-01	45	317	1	72	17								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.944175	0.950000	1	8.800000e-01	9.900000e-01
LEPRE1	64175	broad.mit.edu	37	1	43213396	43213396	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213396T>C	ENST00000296388.5	-	13	1963	c.1912A>G	c.(1912-1914)Acg>Gcg	p.T638A	LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000236040.4_Missense_Mutation_p.T638A			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1			26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)		L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCACTCACCGTCACGGTCTTG	0.473000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000296388.5	1	1	hg19	CCDS472.2	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283536	0.80803	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42900	0.96;0.96;0.96	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.054971	0.64402	D	0.000001	T	0.49813	0.1579	L	0.52206	1.635	0.47994	D	0.999569	P;P;D	0.58620	0.949;0.907;0.983	P;P;P	0.53593	0.73;0.589;0.715	T	0.53358	-0.8450	10	0.72032	D	0.01	-18.7453	12.8443	0.57821	0.0:0.0:0.0:1.0	.	638;503;638	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	A	638;638;638;503	ENSP00000380245:T638A;ENSP00000236040:T638A;ENSP00000296388:T638A	ENSP00000236040:T638A	T	-	1	0	LEPRE1	42985983	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.589000	0.82641	1.922000	0.55676	0.533000	0.62120	ACG		TCGA-IB-7651-01A-11D-2154-08	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	0	0	1	196	704	0	193	1	1	21	195	0	193	2		0	0	0	0	0	2	1	1	192	696	0	192	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.995115	0.990000	1	9.800000e-01	1
ERMAP	114625	broad.mit.edu	37	1	43296571	43296571	+	Missense_Mutation	SNP	G	G	A	rs146247630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43296571G>A	ENST00000372517.2	+	4	462	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)			11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			TTCCCGCAGCGCTCCCAGGCT	0.622000																								0							SO:0001583	missense			ENST00000372517.2	1	1	hg19	CCDS475.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941175	0.73557	2.27E-4	0.0	ENSG00000164010	ENST00000372517;ENST00000372514	T;T	0.65732	-0.17;-0.17	4.97	-7.88	0.01178	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.993010	0.02380	N	0.078693	T	0.41442	0.1159	N	0.25485	0.75	0.20403	N	0.999905	B;D	0.54047	0.161;0.964	B;P	0.45946	0.012;0.498	T	0.53187	-0.8474	10	0.14656	T	0.56	.	0.3555	0.00356	0.24:0.2245:0.1643:0.3712	.	134;73	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	H	73	ENSP00000361595:R73H;ENSP00000361592:R73H	ENSP00000361592:R73H	R	+	2	0	ERMAP	43069158	0.000000	0.05858	0.000000	0.03702	0.477000	0.33069	-0.950000	0.03889	-1.200000	0.02662	0.460000	0.39030	CGC		TCGA-IB-7651-01A-11D-2154-08	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	1	0	1	25	83	0	29	1	9.944200e-01	3	28	0	29	2		0	0	0	0	0	2	1	9.999999e-01	25	81	0	29	2								-20.000000	1	1	121412	4	31	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.810000	1.000000	0.990000	0.951514	0.960000	1	9.000000e-01	9.900000e-01
SLC2A1	6513	broad.mit.edu	37	1	43394659	43394659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43394659C>T	ENST00000426263.3	-	8	1196	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1			13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)		Etomidate(DB00292)	CCAGCGAGGCCTATGAGGTGC	0.612000																								0							SO:0001583	missense			ENST00000426263.3	1	1	hg19	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666946	0.96745	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	D	0.84800	-1.9	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.91337	0.5094	10	0.87932	D	0	.	16.9679	0.86291	0.0:1.0:0.0:0.0	.	340	P11166	GTR1_HUMAN	S	340;340;282	ENSP00000416293:G340S	ENSP00000361579:G340S	G	-	1	0	SLC2A1	43167246	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.440000	0.80464	2.601000	0.87937	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	1	0	1	129	570	0	159	1	1	430	316	0	159	2		0	0	0	0	0	2	1	1	125	556	0	153	2								-3.297897	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.990032	0.980000	1	9.700000e-01	1
SLC2A1	6513	broad.mit.edu	37	1	43395385	43395385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43395385C>T	ENST00000426263.3	-	6	924	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1			13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)		Etomidate(DB00292)	CATCATCTGCCGACTCTCTTC	0.627000																								0		GRCh37	CI056492	SLC2A1	I		SO:0001583	missense			ENST00000426263.3	1	1	hg19	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808952	0.16537	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.73258	-0.73;-0.73	5.14	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054655	0.64402	D	0.000001	T	0.58736	0.2143	L	0.33137	0.985	0.80722	D	1	B	0.20988	0.05	B	0.14023	0.01	T	0.53005	-0.8499	10	0.27785	T	0.31	.	13.5086	0.61497	0.0:0.8422:0.1578:0.0	.	249	P11166	GTR1_HUMAN	Q	249;249;191;154	ENSP00000416293:R249Q;ENSP00000395521:R154Q	ENSP00000361579:R249Q	R	-	2	0	SLC2A1	43167972	1.000000	0.71417	0.991000	0.47740	0.333000	0.28666	2.614000	0.46359	1.152000	0.42452	-0.314000	0.08810	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	1	0	1	62	720	0	169	1	1	202	673	0	169	2		0	0	0	0	0	2	1	1	61	704	0	167	2								-3.075755	1	1	121412	1	38	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.830000	0.650000	0.980000	0.840000	0.836408	0.830000	0	7.400000e-01	9.300000e-01
SLC2A1	6513	broad.mit.edu	37	1	43396482	43396482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43396482C>A	ENST00000426263.3	-	4	509	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C|SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C|SLC2A1_ENST00000475162.1_5'UTR	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1			13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)		Etomidate(DB00292)	TTCGAGAAGCCCATGAGCACG	0.587000																								0							SO:0001583	missense			ENST00000426263.3	1	1	hg19	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967324	0.92855	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000439722;ENST00000415851;ENST00000372500	D;D;D	0.82893	-1.66;-1.66;-1.66	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.90369	3.11	0.80722	D	1	P	0.47191	0.891	P	0.49597	0.616	D	0.91902	0.5532	10	0.87932	D	0	.	16.9145	0.86148	0.0:1.0:0.0:0.0	.	111	P11166	GTR1_HUMAN	C	111;111;16;111;111	ENSP00000416293:G111C;ENSP00000395521:G16C;ENSP00000361578:G111C	ENSP00000361578:G111C	G	-	1	0	SLC2A1	43169069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.581000	0.87130	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	1	0	1	20	150	0	59	1	1	210	457	0	59	2		0	0	0	0	0	2	1	9.999966e-01	20	149	0	59	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.660000	1.000000	0.990000	0.892883	0.900000	1	7.900000e-01	9.800000e-01
TMEM125	128218	broad.mit.edu	37	1	43738921	43738921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43738921C>A	ENST00000432792.2	+	4	1098	c.528C>A	c.(526-528)tgC>tgA	p.C176*	TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*			Q96AQ2	TM125_HUMAN	transmembrane protein 125			3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			GCGGACACTGCCCCTCCATCT	0.632000																								0							SO:0001587	stop_gained			ENST00000432792.2	0	1	hg19	CCDS480.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155432	0.94686	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	.	.	.	5.18	2.29	0.28610	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4935	0.16789	0.0:0.5731:0.1329:0.294	.	.	.	.	X	176	.	ENSP00000429275:C176X	C	+	3	2	TMEM125	43511508	0.005000	0.15991	0.844000	0.33320	0.131000	0.20780	-0.199000	0.09491	0.205000	0.20568	0.563000	0.77884	TGC		TCGA-IB-7651-01A-11D-2154-08	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	1	0	0	14	171	0	31	1	9.557647e-01	18	49	0	31	2		0	0	0	0	0	2	1	9.997362e-01	14	165	0	31	2								-18.730530	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.750000	0.450000	0.980000	0.780000	0.752788	0.750000	0	5.900000e-01	9.100000e-01
C1orf210	149466	broad.mit.edu	37	1	43748499	43748499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43748499C>A	ENST00000523677.1	-	3	532	c.299G>T	c.(298-300)gGc>gTc	p.G100V	C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210			1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			CCCCAGCTCGCCAGTCCCAGG	0.592000																								0							SO:0001583	missense			ENST00000523677.1	1	1	hg19	CCDS481.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062315	0.55432	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.46063	0.88;0.88	5.67	3.39	0.38822	.	0.680689	0.14651	N	0.306584	T	0.27063	0.0663	L	0.29908	0.895	0.29499	N	0.855033	B	0.33171	0.4	B	0.31101	0.124	T	0.19811	-1.0294	10	0.52906	T	0.07	.	5.088	0.14693	0.0:0.6033:0.2052:0.1915	.	100	Q8IVY1	CA210_HUMAN	V	100	ENSP00000430918:G100V;ENSP00000429399:G100V	ENSP00000429399:G100V	G	-	2	0	C1orf210	43521086	0.086000	0.21541	0.099000	0.21106	0.823000	0.46562	1.133000	0.31430	1.344000	0.45657	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	1	0	1	26	318	0	81	1	9.942487e-01	32	69	0	81	2		0	0	0	0	0	2	1	9.999999e-01	25	314	0	79	2								-8.332116	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.780000	0.530000	0.980000	0.790000	0.782233	0.780000	0	6.500000e-01	9.100000e-01
TIE1	7075	broad.mit.edu	37	1	43774659	43774659	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43774659C>T	ENST00000372476.3	+	8	1124	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1			70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			CTCCCCAGACCGGATCCCCCA	0.587000																								0							SO:0001583	missense			ENST00000372476.3	1	1	hg19	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941063	0.53079	.	.	ENSG00000066056	ENST00000372476	T	0.79033	-1.23	4.6	4.6	0.57074	.	0.000000	0.36374	N	0.002635	T	0.68063	0.2960	L	0.46157	1.445	0.80722	D	1	B;B;B	0.27498	0.032;0.18;0.107	B;B;B	0.14578	0.003;0.011;0.007	T	0.65615	-0.6125	10	0.33940	T	0.23	.	11.1624	0.48522	0.0:0.916:0.0:0.084	.	304;349;349	B4DTW8;B5A952;P35590	.;.;TIE1_HUMAN	W	349	ENSP00000361554:R349W	ENSP00000361554:R349W	R	+	1	2	TIE1	43547246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	2.396000	0.81511	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	1	0	1	70	261	0	89	0	9.872281e-01	0	28	0	89	2		0	0	0	0	0	2	1	1	69	252	0	87	2								-3.768996	1	1	121412	4	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982183	0.980000	1	9.500000e-01	1
TIE1	7075	broad.mit.edu	37	1	43777353	43777353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43777353C>T	ENST00000372476.3	+	10	1424	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1			70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			GCCCCCCGTGCCCCTGGCTGC	0.627000																								0							SO:0001583	missense			ENST00000372476.3	1	1	hg19	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144981	0.77888	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.79749	-1.3;0.89	5.03	4.11	0.48088	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.217057	0.23356	N	0.049067	D	0.90304	0.6967	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.957;0.987;1.0;0.981	D;P;P;D;P	0.91635	0.998;0.75;0.763;0.999;0.873	D	0.91676	0.5354	10	0.72032	D	0.01	.	15.4145	0.74956	0.0:0.8602:0.1398:0.0	.	94;404;449;94;449	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	449;94	ENSP00000361554:P449S;ENSP00000411728:P94S	ENSP00000361554:P449S	P	+	1	0	TIE1	43549940	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.538000	0.53597	1.101000	0.41535	0.563000	0.77884	CCC		TCGA-IB-7651-01A-11D-2154-08	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	1	0	0	52	485	0	86	0	9.690838e-01	0	54	0	86	2		0	0	0	0	0	2	1	1	52	479	0	85	2								-16.259910	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.740000	1.000000	0.990000	0.912938	0.920000	1	8.300000e-01	9.800000e-01
TIE1	7075	broad.mit.edu	37	1	43779499	43779499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43779499C>A	ENST00000372476.3	+	14	2348	c.2269C>A	c.(2269-2271)Ctg>Atg	p.L757M	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L402M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1			70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			TGAAGAGGGCCTGGATCAGCA	0.642000																								0							SO:0001583	missense			ENST00000372476.3	1	1	hg19	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942425	0.34283	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.77489	-1.05;-1.1	5.63	5.63	0.86233	.	0.000000	0.31809	N	0.007030	T	0.63920	0.2552	L	0.29908	0.895	0.29938	N	0.821281	B;B;B;B	0.27351	0.114;0.07;0.07;0.176	B;B;B;B	0.18561	0.022;0.01;0.01;0.017	T	0.60581	-0.7235	10	0.34782	T	0.22	.	9.8246	0.40903	0.1543:0.6966:0.149:0.0	.	402;712;402;757	E9PG63;B4DTW8;B4DKW0;P35590	.;.;.;TIE1_HUMAN	M	757;160;40;402	ENSP00000361554:L757M;ENSP00000411728:L402M	ENSP00000361553:L160M	L	+	1	2	TIE1	43552086	0.948000	0.32251	1.000000	0.80357	0.955000	0.61496	1.931000	0.40134	2.651000	0.90000	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	1	0	1	21	152	0	43	0	9.217508e-01	0	34	0	43	2		0	0	0	0	0	2	1	9.999982e-01	21	150	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.680000	1.000000	0.990000	0.900581	0.910000	1	8.100000e-01	9.800000e-01
MED8	112950	broad.mit.edu	37	1	43853238	43853238	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43853238G>A	ENST00000372457.4	-	3	249	c.206C>T	c.(205-207)cCg>cTg	p.P69L	SZT2_ENST00000310739.4_5'Flank|MED8_ENST00000372455.4_5'UTR|SZT2_ENST00000562955.1_5'Flank|SZT2_ENST00000372450.4_5'Flank|RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000290663.6_Missense_Mutation_p.P69L	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8			9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			ACGGAACAGCGGTGTTTTTTC	0.463000																								0							SO:0001583	missense			ENST00000372457.4	1	1	hg19	CCDS487.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043288	0.93685	2.27E-4	0.0	ENSG00000159479	ENST00000290663;ENST00000372457	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.83297	-0.0030	9	0.66056	D	0.02	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	69;69	Q96G25;Q96G25-2	MED8_HUMAN;.	L	69	.	ENSP00000290663:P69L	P	-	2	0	MED8	43625825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.804000	0.99143	2.769000	0.95229	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	1	0	0	19	272	0	74	1	9.999273e-01	19	210	0	74	2		0	0	0	0	0	2	1	9.999905e-01	19	267	0	74	2								-2.619944	1	1	121408	2	33	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.680000	0.430000	0.950000	0.680000	0.696247	0.680000	0	5.500000e-01	8.400000e-01
PTPRF	5792	broad.mit.edu	37	1	44056764	44056764	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056764G>A	ENST00000359947.4	+	9	1411	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	PTPRF_ENST00000438120.1_Silent_p.A357A|PTPRF_ENST00000372414.3_Silent_p.A357A|PTPRF_ENST00000372413.3_Silent_p.A357A|PTPRF_ENST00000422171.2_5'Flank	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F			72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			ACCGCGCAGCGGGCACGGAGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000359947.4	1	1	hg19	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.724|9.724	1.160491|1.160491	0.21454|0.21454	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568|ENST00000429895	.|.	.|.	.|.	5.48|5.48	-4.51|-4.51	0.03483|0.03483	.|.	.|.	.|.	.|.	.|.	T|T	0.45115|0.45115	0.1326|0.1326	.|.	.|.	.|.	0.33155|0.33155	D|D	0.546231|0.546231	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52193|0.52193	-0.8608|-0.8608	4|4	.|.	.|.	.|.	.|.	9.8855|9.8855	0.41260|0.41260	0.634:0.0:0.2527:0.1133|0.634:0.0:0.2527:0.1133	.|.	.|.	.|.	.|.	R|Q	25|14	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43829351|43829351	0.008000|0.008000	0.16893|0.16893	0.036000|0.036000	0.18154|0.18154	0.961000|0.961000	0.63080|0.63080	-0.143000|-0.143000	0.10296|0.10296	-1.210000|-1.210000	0.02627|0.02627	-0.253000|-0.253000	0.11424|0.11424	GGG|CGG		TCGA-IB-7651-01A-11D-2154-08	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	1	123	514	0	113	1	1	49	77	0	113	2		0	0	0	0	0	2	1	1	121	508	0	112	2								-2.762532	1	1	121412	2	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989966	0.980000	1	9.700000e-01	1
PTPRF	5792	broad.mit.edu	37	1	44056913	44056913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056913G>A	ENST00000359947.4	+	9	1560	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	PTPRF_ENST00000438120.1_Missense_Mutation_p.R407H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R407H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R407H|PTPRF_ENST00000422171.2_5'Flank	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F			72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			GTGCGGGCACGCACGGGAGAA	0.701000																								0							SO:0001583	missense			ENST00000359947.4	0	1	hg19	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.091682|4.091682	0.76756|0.76756	2.28E-4|2.28E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	.|T;T;T;T	.|0.56776	.|0.44;0.44;0.44;0.44	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.34555	.|N	.|0.003863	T|T	0.73187|0.73187	0.3555|0.3555	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.992	.|D;P	.|0.79784	.|0.993;0.835	T|T	0.76130|0.76130	-0.3072|-0.3072	5|10	.|0.66056	.|D	.|0.02	.|.	13.0068|13.0068	0.58710|0.58710	0.0737:0.0:0.9262:0.0|0.0737:0.0:0.9262:0.0	.|.	.|407;407	.|P10586-2;P10586	.|.;PTPRF_HUMAN	T|H	64|407	.|ENSP00000353030:R407H;ENSP00000398822:R407H;ENSP00000361491:R407H;ENSP00000361490:R407H	.|ENSP00000353030:R407H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43829500|43829500	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.961000|0.961000	0.63080|0.63080	5.813000|5.813000	0.69201|0.69201	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	0	13	79	0	15	1	9.870886e-01	15	33	0	15	2		0	0	0	0	0	2	1	9.996146e-01	11	79	0	15	2								-20.000000	1	1	118776	4	28	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.620000	1.000000	0.990000	0.881733	0.900000	1	7.700000e-01	9.800000e-01
PTPRF	5792	broad.mit.edu	37	1	44070974	44070974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44070974C>T	ENST00000359947.4	+	18	3589	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	PTPRF_ENST00000438120.1_Silent_p.S1074S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000422171.2_Silent_p.S431S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F			72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			GTGGCAGCAGCGCAGGGGGCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000359947.4	1	1	hg19	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.300|9.300	1.052874|1.052874	0.19907|0.19907	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568;ENST00000414879	.|.	.|.	.|.	5.31|5.31	-5.64|-5.64	0.02466|0.02466	.|.	.|.	.|.	.|.	.|.	T|T	0.65217|0.65217	0.2670|0.2670	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66905|0.66905	-0.5805|-0.5805	4|4	.|.	.|.	.|.	.|.	16.6775|16.6775	0.85283|0.85283	0.0:0.1841:0.0:0.8159|0.0:0.1841:0.0:0.8159	.|.	.|.	.|.	.|.	V|C	729|456;497	.|.	.|.	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43843561|43843561	0.002000|0.002000	0.14202|0.14202	0.437000|0.437000	0.26809|0.26809	0.853000|0.853000	0.48598|0.48598	-1.240000|-1.240000	0.02914|0.02914	-1.139000|-1.139000	0.02881|0.02881	-0.229000|-0.229000	0.12294|0.12294	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	1	43	390	1	75	1	9.860281e-01	39	153	1	75	10		0	0	0	0	0	2	1	1	43	387	0	73	2								-3.318794	1	0	121412	5	38	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.730000	1.000000	0.990000	0.909526	0.910000	1	8.300000e-01	9.800000e-01
PTPRF	5792	broad.mit.edu	37	1	44071037	44071037	+	Silent	SNP	G	G	A	rs149446507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071037G>A	ENST00000359947.4	+	18	3652	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	PTPRF_ENST00000438120.1_Silent_p.P1095P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000422171.2_Silent_p.P452P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F			72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			CTCACAAGCCGCTGCCTGCCT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000359947.4	1	1	hg19	CCDS489.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.624|1.624	-0.520643|-0.520643	0.04171|0.04171	2.27E-4|2.27E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.31|5.31	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.39627|0.39627	0.1085|0.1085	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46484|0.46484	-0.9188|-0.9188	4|4	.|.	.|.	.|.	.|.	4.2496|4.2496	0.10688|0.10688	0.5499:0.158:0.1774:0.1148|0.5499:0.158:0.1774:0.1148	.|.	.|.	.|.	.|.	T|H	477;518|750	.|.	.|.	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43843624|43843624	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.287000|0.287000	0.27160|0.27160	-1.888000|-1.888000	0.01616|0.01616	-2.539000|-2.539000	0.00486|0.00486	-1.290000|-1.290000	0.01357|0.01357	GCT|CGC		TCGA-IB-7651-01A-11D-2154-08	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	1	39	317	0	69	1	1	47	178	0	69	2		0	0	0	0	0	2	1	1	34	297	0	52	2								-15.100590	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.750000	1.000000	0.990000	0.923426	0.930000	1	8.500000e-01	9.900000e-01
PTPRF	5792	broad.mit.edu	37	1	44085236	44085236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44085236G>A	ENST00000359947.4	+	28	5264	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F			72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			CATGGAGCTCGAGTTCAAGGT	0.652000																								0							SO:0001583	missense			ENST00000359947.4	1	1	hg19	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.252917|4.252917	0.80135|0.80135	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.	0.17213|.	2.29;2.29;2.29;2.29;2.29;2.29|.	4.87|4.87	4.87|4.87	0.63330|0.63330	Protein-tyrosine phosphatase, receptor/non-receptor type (2);|.	0.000000|.	0.34750|.	N|.	0.003720|.	D|D	0.88043|0.88043	0.6331|0.6331	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.986;0.995;0.995;0.993;0.996|.	D|D	0.91784|0.91784	0.5438|0.5438	10|5	0.87932|.	D|.	0|.	.|.	18.895|18.895	0.92420|0.92420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1287;1001;1219;1633;1642|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	K|Q	1642;1633;1642;1633;1001;714|1025;1066	ENSP00000353030:E1642K;ENSP00000398822:E1633K;ENSP00000361491:E1642K;ENSP00000361490:E1633K;ENSP00000387885:E1001K;ENSP00000361484:E714K|.	ENSP00000353030:E1642K|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43857823|43857823	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.588000|0.588000	0.36517|0.36517	9.807000|9.807000	0.99171|0.99171	2.629000|2.629000	0.89072|0.89072	0.555000|0.555000	0.69702|0.69702	GAG|CGA		TCGA-IB-7651-01A-11D-2154-08	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	0	0	1	39	253	1	68	1	9.997308e-01	106	161	1	68	14		0	0	0	0	0	2	1	9.997886e-01	38	247	1	68	15								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.946183	0.950000	1	8.900000e-01	9.900000e-01
KDM4A	9682	broad.mit.edu	37	1	44149434	44149434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44149434G>A	ENST00000372396.3	+	12	1948	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A			37					AAGCTCCCCCGCCATCACCCA	0.478000																								0							SO:0001583	missense			ENST00000372396.3	1	1	hg19	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231546	0.95207	.	.	ENSG00000066135	ENST00000372396	T	0.42131	0.98	5.47	5.47	0.80525	.	0.115168	0.53938	D	0.000054	T	0.61664	0.2365	L	0.55481	1.735	0.49687	D	0.999811	D	0.76494	0.999	D	0.76071	0.987	T	0.59429	-0.7456	10	0.46703	T	0.11	-13.6714	18.988	0.92780	0.0:0.0:1.0:0.0	.	605	O75164	KDM4A_HUMAN	H	605	ENSP00000361473:R605H	ENSP00000361473:R605H	R	+	2	0	KDM4A	43922021	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.224000	0.89781	2.589000	0.87451	0.551000	0.68910	CGC		TCGA-IB-7651-01A-11D-2154-08	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	1	0	1	32	349	0	84	1	9.972598e-01	13	88	0	84	2		0	0	0	0	0	2	1	1	31	335	0	82	2								-3.075755	1	1	121412	1	32	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.610000	0.990000	0.880000	0.839613	0.840000	0	7.200000e-01	9.500000e-01
KDM4A	9682	broad.mit.edu	37	1	44163605	44163605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163605G>T	ENST00000372396.3	+	19	2896	c.2762G>T	c.(2761-2763)aGg>aTg	p.R921M	KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A			37					GAAGTGGTCAGGCTCACCACC	0.493000																								0							SO:0001583	missense			ENST00000372396.3	1	1	hg19	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855743	0.51376	.	.	ENSG00000066135	ENST00000372396	T	0.71698	-0.59	6.08	1.2	0.21068	Tudor domain (1);	0.358324	0.35772	N	0.002996	T	0.52289	0.1725	N	0.22421	0.69	0.28794	N	0.899132	P	0.35600	0.511	B	0.34824	0.19	T	0.51196	-0.8736	10	0.56958	D	0.05	-12.0289	8.7145	0.34403	0.1434:0.412:0.4446:0.0	.	921	O75164	KDM4A_HUMAN	M	921	ENSP00000361473:R921M	ENSP00000361473:R921M	R	+	2	0	KDM4A	43936192	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.566000	0.45948	0.334000	0.23590	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	1	0	1	40	335	0	72	1	9.969449e-01	12	64	0	72	2		0	0	0	0	0	2	1	1	39	329	0	72	2								-14.815170	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.740000	1.000000	0.990000	0.920272	0.930000	1	8.400000e-01	9.900000e-01
KDM4A	9682	broad.mit.edu	37	1	44163674	44163674	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163674A>C	ENST00000372396.3	+	19	2965	c.2831A>C	c.(2830-2832)gAg>gCg	p.E944A	KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A			37					CTTTATCCTGAGGACATAGTG	0.498000																								0							SO:0001583	missense			ENST00000372396.3	1	1	hg19	CCDS491.1	.	.	.	.	.	.	.	.	.	.	A	33	5.263999	0.95399	.	.	ENSG00000066135	ENST00000372396	T	0.20598	2.06	6.08	6.08	0.98989	Tudor domain (1);	0.043479	0.85682	D	0.000000	T	0.32224	0.0822	M	0.80982	2.52	0.80722	D	1	P	0.52316	0.952	B	0.41860	0.368	T	0.31081	-0.9956	10	0.66056	D	0.02	-26.9569	16.6438	0.85155	1.0:0.0:0.0:0.0	.	944	O75164	KDM4A_HUMAN	A	944	ENSP00000361473:E944A	ENSP00000361473:E944A	E	+	2	0	KDM4A	43936261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	1	0	1	66	235	0	62	1	9.999996e-01	28	53	0	62	2		0	0	0	0	0	2	1	1	66	232	0	62	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981515	0.980000	1	9.500000e-01	1
KLF17	128209	broad.mit.edu	37	1	44595120	44595120	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595120G>T	ENST00000372299.3	+	2	235	c.177G>T	c.(175-177)caG>caT	p.Q59H	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17			18	Acute lymphoblastic leukemia(166;0.155)				CAAGCATTCAGCACTTTCCTC	0.547000																								0							SO:0001583	missense			ENST00000372299.3	1	1	hg19	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865481	0.51588	.	.	ENSG00000171872	ENST00000372299	T	0.10573	2.86	4.58	-5.08	0.02929	.	0.272363	0.26638	N	0.023272	T	0.05640	0.0148	L	0.34521	1.04	0.09310	N	1	B	0.34290	0.447	B	0.30179	0.112	T	0.13764	-1.0497	10	0.56958	D	0.05	.	6.6062	0.22726	0.2676:0.2857:0.4468:0.0	.	59	Q5JT82	KLF17_HUMAN	H	59	ENSP00000361373:Q59H	ENSP00000361373:Q59H	Q	+	3	2	KLF17	44367707	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.393000	0.07305	-1.037000	0.03283	-0.781000	0.03364	CAG		TCGA-IB-7651-01A-11D-2154-08	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	1	0	1	42	360	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	41	347	0	73	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.740000	1.000000	0.990000	0.919044	0.920000	1	8.400000e-01	9.800000e-01
KLF17	128209	broad.mit.edu	37	1	44595709	44595709	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595709G>A	ENST00000372299.3	+	2	824	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17			18	Acute lymphoblastic leukemia(166;0.155)				AGAGCAGCCCGGACCTGCTCC	0.557000																								0							SO:0001583	missense			ENST00000372299.3	1	1	hg19	CCDS508.1	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044501	0.08196	0.0	1.16E-4	ENSG00000171872	ENST00000372299	T	0.10763	2.84	4.65	-0.406	0.12389	.	1.149600	0.06340	N	0.707762	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	10	0.11794	T	0.64	.	3.4088	0.07351	0.4837:0.0:0.1661:0.3502	.	256	Q5JT82	KLF17_HUMAN	R	256	ENSP00000361373:G256R	ENSP00000361373:G256R	G	+	1	0	KLF17	44368296	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.802000	0.04545	-0.325000	0.08577	-0.381000	0.06696	GGA		TCGA-IB-7651-01A-11D-2154-08	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	1	0	1	36	320	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1	36	312	0	87	2								-2.879461	1	1	121412	13	44	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.710000	1.000000	0.990000	0.903879	0.910000	1	8.200000e-01	9.800000e-01
DMAP1	55929	broad.mit.edu	37	1	44684367	44684367	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44684367T>C	ENST00000372289.2	+	5	923	c.660T>C	c.(658-660)gcT>gcC	p.A220A	DMAP1_ENST00000315913.5_Silent_p.A220A|DMAP1_ENST00000361745.6_Silent_p.A220A|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1			16	Acute lymphoblastic leukemia(166;0.155)				TATTTGATGCTGGGCACGAAC	0.567000											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000372289.2	1	1	hg19	CCDS509.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	1	0	1	85	294	0	94	1	9.999996e-01	20	56	0	94	2		0	0	0	0	0	2	1	1	86	283	0	92	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986413	0.980000	1	9.600000e-01	1
RNF220	55182	broad.mit.edu	37	1	45079892	45079892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45079892C>A	ENST00000355387.2	+	3	1131	c.681C>A	c.(679-681)tgC>tgA	p.C227*	RNF220_ENST00000443020.2_5'UTR|RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*			Q5VTB9	RN220_HUMAN	ring finger protein 220			29					GCCCCATCTGCCAGGTCCTGC	0.592000																								0							SO:0001587	stop_gained			ENST00000355387.2	0	1	hg19	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	36	5.960329	0.97145	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.14	1.22	0.21188	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1671	0.20396	0.1204:0.6103:0.0:0.2693	.	.	.	.	X	227	.	ENSP00000347548:C227X	C	+	3	2	RNF220	44852479	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.174000	0.42482	0.072000	0.16694	-0.145000	0.13849	TGC		TCGA-IB-7651-01A-11D-2154-08	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	1	0	1	54	495	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	54	484	0	108	2								-16.783390	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.750000	1.000000	0.990000	0.918705	0.920000	1	8.400000e-01	9.800000e-01
RNF220	55182	broad.mit.edu	37	1	45111149	45111149	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45111149C>T	ENST00000355387.2	+	12	1884	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000443020.2_Silent_p.S265S|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000361799.2_Silent_p.S478S|RNF220_ENST00000372247.2_Silent_p.S478S|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220			29					GCAAGAACAGCGACATCGAGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000355387.2	1	1	hg19	CCDS510.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	1	0	1	22	149	0	53	1	1	71	211	0	53	2		0	0	0	0	0	2	1	9.999990e-01	22	145	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.700000	1.000000	0.990000	0.910701	0.920000	1	8.200000e-01	9.800000e-01
BEST4	266675	broad.mit.edu	37	1	45253349	45253349	+	Missense_Mutation	SNP	G	G	A	rs16832247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45253349G>A	ENST00000372207.3	-	1	28	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4			7	Acute lymphoblastic leukemia(166;0.155)				GCGGGCCTCCGCCACTTTGAG	0.572000																								0							SO:0001583	missense			ENST00000372207.3	1	1	hg19	CCDS514.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980682	0.74474	.	.	ENSG00000142959	ENST00000372207	D	0.98732	-5.1	4.68	2.79	0.32731	.	0.187640	0.45126	N	0.000399	D	0.99158	0.9709	H	0.94925	3.6	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.98974	1.0802	10	0.87932	D	0	-3.1961	7.1703	0.25715	0.0913:0.0:0.7384:0.1704	rs16832247;rs16832247	10	Q8NFU0	BEST4_HUMAN	V	10	ENSP00000361281:A10V	ENSP00000361281:A10V	A	-	2	0	BEST4	45025936	1.000000	0.71417	0.448000	0.26945	0.612000	0.37316	7.800000	0.85949	0.570000	0.29347	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	1	0	0	44	480	0	91	0	0	0	1	0	91	2		0	0	0	0	0	2	1	1	44	466	0	88	2								-3.142702	1	1	121412	1	30	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.850000	0.650000	0.990000	0.890000	0.854426	0.850000	1	7.500000e-01	9.500000e-01
PLK3	1263	broad.mit.edu	37	1	45268516	45268516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45268516G>A	ENST00000372201.4	+	6	977	c.738G>A	c.(736-738)ctG>ctA	p.L246L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3			19	Acute lymphoblastic leukemia(166;0.155)				TATGGTCACTGGGCTGTGTCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000372201.4	0	1	hg19	CCDS515.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	0	0	0	9	346	0	69	1	6.109569e-01	5	72	0	69	2		0	0	0	0	0	2	1	9.934946e-01	9	335	0	67	2								-2.720374	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.270000	0.130000	0.480000	0.270000	0.293257	0.270000	0	1.900000e-01	3.800000e-01
PLK3	1263	broad.mit.edu	37	1	45270982	45270982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45270982G>A	ENST00000372201.4	+	14	1919	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3			19	Acute lymphoblastic leukemia(166;0.155)				TACCTGCTCCGCCCTTGCTGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000372201.4	1	1	hg19	CCDS515.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	1	0	1	36	326	0	76	1	9.986349e-01	16	77	0	76	2		0	0	0	0	0	2	1	1	36	322	0	74	2								-12.849460	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.700000	1.000000	0.990000	0.900092	0.910000	1	8.100000e-01	9.800000e-01
PLK3	1263	broad.mit.edu	37	1	45271006	45271006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271006G>A	ENST00000372201.4	+	14	1943	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3			19	Acute lymphoblastic leukemia(166;0.155)				AGTGGGTCAAGACGGATCAGG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000372201.4	1	1	hg19	CCDS515.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	1	0	1	93	332	0	92	1	9.999999e-01	31	55	0	92	2		0	0	0	0	0	2	1	1	91	328	0	91	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.987534	0.980000	1	9.600000e-01	1
TCTEX1D4	343521	broad.mit.edu	37	1	45271752	45271752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271752C>T	ENST00000339355.2	-	1	595	c.589G>A	c.(589-591)Gat>Aat	p.D197N	TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.D197N|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4			1	Acute lymphoblastic leukemia(166;0.155)				GCCAGCCCATCGCGCGCCACG	0.672000																								0							SO:0001583	missense			ENST00000339355.2	0	1	hg19	CCDS30699.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794210	0.70452	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.70399	-0.48;-0.48	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	D	0.88081	0.6341	M	0.93978	3.48	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90925	0.4786	10	0.87932	D	0	-5.9617	15.9529	0.79859	0.0:1.0:0.0:0.0	.	197	Q5JR98	TC1D4_HUMAN	N	197	ENSP00000341803:D197N;ENSP00000361274:D197N	ENSP00000341803:D197N	D	-	1	0	TCTEX1D4	45044339	0.999000	0.42202	0.156000	0.22583	0.084000	0.17831	5.615000	0.67702	2.540000	0.85666	0.555000	0.69702	GAT		TCGA-IB-7651-01A-11D-2154-08	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	1	0	0	11	118	0	17	0	0	0	1	0	17	2		0	0	0	0	0	2	1	9.985094e-01	11	117	0	17	2								-17.178020	1	1	120986	2	35	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.780000	0.450000	0.990000	0.860000	0.776449	0.780000	0	6.100000e-01	9.300000e-01
PTCH2	8643	broad.mit.edu	37	1	45292982	45292982	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45292982C>A	ENST00000372192.3	-	16	2502		c.e16-1		PTCH2_ENST00000447098.2_Splice_Site	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2			50	Acute lymphoblastic leukemia(166;0.155)				GCCTGGATTCCTGGGGGAGAC	0.642000									Basal Cell Nevus syndrome															0							SO:0001630	splice_region_variant	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	ENST00000372192.3	1	1	hg19	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725120	0.48833	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTCH2	45065569	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	5.634000	0.67833	2.402000	0.81655	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	1	0	1	103	330	0	81	0	0	0	1	0	81	2		0	0	0	0	0	2	1	1	103	327	0	80	2								-4.835462	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989695	0.980000	1	9.700000e-01	1
PTCH2	8643	broad.mit.edu	37	1	45293758	45293758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45293758G>T	ENST00000372192.3	-	14	1945	c.1815C>A	c.(1813-1815)caC>caA	p.H605Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.H605Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2			50	Acute lymphoblastic leukemia(166;0.155)				TGGCTTCACAGTGGGTAAAGG	0.622000									Basal Cell Nevus syndrome															0							SO:0001583	missense	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	ENST00000372192.3	1	1	hg19	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	8.907	0.957861	0.18507	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91843	-2.92;-2.92	4.76	-0.0199	0.13958	.	0.282191	0.25587	N	0.029644	T	0.72581	0.3478	N	0.02368	-0.58	0.33946	D	0.643859	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.004	T	0.61936	-0.6960	10	0.15499	T	0.54	-32.9926	3.0358	0.06122	0.0915:0.3089:0.3805:0.219	.	605;605	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	605	ENSP00000389703:H605Q;ENSP00000361266:H605Q	ENSP00000361266:H605Q	H	-	3	2	PTCH2	45066345	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	1.811000	0.38942	0.402000	0.25451	0.557000	0.71058	CAC		TCGA-IB-7651-01A-11D-2154-08	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	0	0	0	49	460	1	112	0	4.029017e-01	0	14	1	112	2		0	0	0	0	0	2	1	9.999938e-01	49	450	1	111	16								-15.493320	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.730000	1.000000	0.990000	0.908453	0.910000	1	8.300000e-01	9.800000e-01
PTCH2	8643	broad.mit.edu	37	1	45307689	45307689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45307689G>A	ENST00000372192.3	-	2	225	c.95C>T	c.(94-96)gCt>gTt	p.A32V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A32V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2			50	Acute lymphoblastic leukemia(166;0.155)				CCAGAGTGGAGCCTTCAGGCT	0.537000									Basal Cell Nevus syndrome															0							SO:0001583	missense	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	ENST00000372192.3	1	1	hg19	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002097	0.93227	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.83755	-1.76;-1.76	4.49	4.49	0.54785	.	0.000000	0.47455	D	0.000227	T	0.81437	0.4822	L	0.51422	1.61	0.52501	D	0.999955	P	0.38788	0.647	B	0.41946	0.371	T	0.81829	-0.0753	10	0.40728	T	0.16	-6.674	16.0996	0.81163	0.0:0.0:1.0:0.0	.	32	Q9Y6C5	PTC2_HUMAN	V	32	ENSP00000389703:A32V;ENSP00000361266:A32V	ENSP00000361266:A32V	A	-	2	0	PTCH2	45080276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.325000	0.78763	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	1	0	1	80	347	0	129	0	0	0	1	0	129	2		0	0	0	0	0	2	1	1	80	342	0	128	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982833	0.980000	1	9.600000e-01	1
EIF2B3	8891	broad.mit.edu	37	1	45340395	45340395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45340395G>A	ENST00000360403.2	-	10	1283	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa			17	Acute lymphoblastic leukemia(166;0.155)				ATTGGTAATAGTCACTCTATC	0.453000													Colon(26;357 658 2581 11857 12657)											0							SO:0001583	missense			ENST00000360403.2	1	1	hg19	CCDS517.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863932	0.51482	.	.	ENSG00000070785	ENST00000360403;ENST00000372183	T;D	0.93906	0.53;-3.31	5.52	3.46	0.39613	.	0.392077	0.30126	N	0.010343	D	0.89860	0.6837	L	0.42008	1.315	0.27819	N	0.941852	B;B;B	0.22541	0.001;0.071;0.001	B;B;B	0.27608	0.009;0.081;0.004	D	0.83820	0.0246	10	0.46703	T	0.11	-0.8284	11.9317	0.52849	0.0:0.0:0.4066:0.5933	.	386;386;386	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	I	386	ENSP00000353575:T386I;ENSP00000361257:T386I	ENSP00000353575:T386I	T	-	2	0	EIF2B3	45112982	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.955000	0.56715	1.312000	0.45043	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	0	0	0	17	473	0	116	1	8.032433e-01	8	78	0	116	2		0	0	0	0	0	2	1	9.999598e-01	15	465	0	115	2								-3.788882	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.370000	0.220000	0.560000	0.370000	0.385996	0.370000	0	2.900000e-01	4.700000e-01
HECTD3	79654	broad.mit.edu	37	1	45470286	45470286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45470286C>A	ENST00000372172.4	-	16	2199	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3			28	Acute lymphoblastic leukemia(166;0.155)				TCCTTGCTCTCCTCTAGCCGT	0.602000																								0							SO:0001587	stop_gained			ENST00000372172.4	0	1	hg19	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	39	7.810838	0.98501	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	.	.	.	5.28	5.28	0.74379	.	0.046750	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.0867	0.93206	0.0:1.0:0.0:0.0	.	.	.	.	X	710;320	.	ENSP00000361241:E320X	E	-	1	0	HECTD3	45242873	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.316000	0.79007	2.735000	0.93741	0.549000	0.68633	GAG		TCGA-IB-7651-01A-11D-2154-08	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	0	0	0	31	481	1	112	0	7.607714e-01	3	120	1	112	6		0	0	0	0	0	2	1	9.890285e-01	30	466	1	110	16								-3.318747	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.640000	0.440000	0.870000	0.640000	0.656235	0.640000	0	5.400000e-01	7.600000e-01
ZSWIM5	57643	broad.mit.edu	37	1	45484670	45484670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45484670C>T	ENST00000359600.5	-	14	3219	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	p.R1005H(1)		28	Acute lymphoblastic leukemia(166;0.155)				CTCCATGTAGCGGGCGATGGT	0.557000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												1	Substitution - Missense(1)						SO:0001583	missense			ENST00000359600.5	1	1	hg19	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396091	0.83011	2.36E-4	0.0	ENSG00000162415	ENST00000359600	T	0.59772	0.24	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81709	-0.0809	10	0.87932	D	0	-8.2066	18.6023	0.91253	0.0:1.0:0.0:0.0	.	1005	Q9P217	ZSWM5_HUMAN	H	1005	ENSP00000352614:R1005H	ENSP00000352614:R1005H	R	-	2	0	ZSWIM5	45257257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.558000	0.86282	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	1	0	1	98	314	0	93	0	3.443768e-01	1	4	0	93	2		0	0	0	0	0	2	1	1	94	312	0	93	2								-20.000000	1	1	121106	3	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989049	0.980000	1	9.700000e-01	1
ZSWIM5	57643	broad.mit.edu	37	1	45504624	45504624	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45504624G>T	ENST00000359600.5	-	8	2083	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5			28	Acute lymphoblastic leukemia(166;0.155)				TCTCCAGATAGCCATCATCAT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000359600.5	1	1	hg19	CCDS41319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	1	0	0	18	210	0	57	0	5.900247e-02	0	5	0	57	2		0	0	0	0	0	2	1	9.999812e-01	18	204	0	57	2								-19.999700	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.780000	0.500000	0.990000	0.820000	0.783566	0.780000	0	6.400000e-01	9.200000e-01
ZSWIM5	57643	broad.mit.edu	37	1	45553598	45553598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45553598C>T	ENST00000359600.5	-	2	1112	c.907G>A	c.(907-909)Gca>Aca	p.A303T	ZSWIM5_ENST00000464588.1_5'Flank	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5			28	Acute lymphoblastic leukemia(166;0.155)				ATCTCATCTGCCAGTTTCTGT	0.378000																								0							SO:0001583	missense			ENST00000359600.5	1	1	hg19	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209779	0.95069	.	.	ENSG00000162415	ENST00000359600	T	0.21361	2.01	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54944	-0.8217	10	0.52906	T	0.07	-8.6546	18.0844	0.89453	0.0:1.0:0.0:0.0	.	303	Q9P217	ZSWM5_HUMAN	T	303	ENSP00000352614:A303T	ENSP00000352614:A303T	A	-	1	0	ZSWIM5	45326185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.432000	0.82394	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	1	0	1	67	582	0	114	0	1.235485e-01	0	6	0	114	2		0	0	0	0	0	2	1	1	65	566	0	113	2								-19.920590	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.800000	1.000000	0.990000	0.938868	0.940000	1	8.800000e-01	9.900000e-01
TOE1	114034	broad.mit.edu	37	1	45806997	45806997	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45806997G>T	ENST00000372090.5	+	3	801	c.218G>T	c.(217-219)aGg>aTg	p.R73M	MUTYH_ENST00000531105.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000529984.1_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000355498.2_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)			11	Acute lymphoblastic leukemia(166;0.155)				CTTGGGGACAGGAAGAGTTTG	0.557000																								0							SO:0001583	missense			ENST00000372090.5	1	1	hg19	CCDS521.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.070978|5.070978	0.93950|0.93950	.|.	.|.	ENSG00000132773|ENSG00000132773	ENST00000539779|ENST00000372090	T|T	0.30448|0.24723	1.53|1.84	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Ribonuclease H-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.81682|0.81682	2.555|2.555	0.38079|0.38079	D|D	0.936615|0.936615	P|D;D	0.50819|0.89917	0.939|1.0;1.0	P|D;D	0.57548|0.97110	0.823|1.0;0.998	T|T	0.62338|0.62338	-0.6875|-0.6875	9|10	0.87932|0.72032	D|D	0|0.01	-20.7764|-20.7764	19.5968|19.5968	0.95544|0.95544	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25|79;73	B4DEM6|B4DP23;Q96GM8	.|.;TOE1_HUMAN	H|M	25|73	ENSP00000438900:Q25H|ENSP00000361162:R73M	ENSP00000438900:Q25H|ENSP00000361162:R73M	Q|R	+|+	3|2	2|0	TOE1|TOE1	45579584|45579584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	8.669000|8.669000	0.91163|0.91163	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAG|AGG		TCGA-IB-7651-01A-11D-2154-08	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	1	0	1	61	281	0	62	1	9.964370e-01	18	24	0	62	2		0	0	0	0	0	2	1	1	60	277	0	61	2								-3.001334	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.975712	0.970000	1	9.400000e-01	1
TESK2	10420	broad.mit.edu	37	1	45811107	45811107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45811107C>T	ENST00000372086.3	-	11	1521	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000538496.1_Missense_Mutation_p.R291H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2			32	Acute lymphoblastic leukemia(166;0.155)				TGGGGGCTTACGGGAAAAGAT	0.557000																								0							SO:0001583	missense			ENST00000372086.3	1	1	hg19	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	C	5.013	0.188162	0.09547	0.002002	0.0	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.76316	-0.91;-0.75;-0.91;-1.01	5.96	-4.89	0.03103	.	0.861689	0.10499	N	0.667433	T	0.64549	0.2608	L	0.33485	1.01	0.09310	N	0.999995	B;B	0.16603	0.018;0.005	B;B	0.11329	0.006;0.002	T	0.46707	-0.9172	10	0.30854	T	0.27	1.9518	14.1925	0.65646	0.0:0.443:0.0:0.557	.	345;374	Q96S53-3;Q96S53	.;TESK2_HUMAN	H	345;374;358;345;291	ENSP00000361156:R345H;ENSP00000361158:R374H;ENSP00000343940:R345H;ENSP00000441746:R291H	ENSP00000343940:R345H	R	-	2	0	TESK2	45583694	0.999000	0.42202	0.070000	0.20053	0.149000	0.21700	0.757000	0.26433	-0.828000	0.04273	-0.136000	0.14681	CGT		TCGA-IB-7651-01A-11D-2154-08	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	1	0	0	26	276	0	39	0	2.558206e-01	0	11	0	39	2		0	0	0	0	0	2	1	9.999999e-01	25	271	0	39	2								-2.879461	1	1	120936	18	43	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.590000	0.990000	0.900000	0.837892	0.840000	0	7.200000e-01	9.500000e-01
PRDX1	5052	broad.mit.edu	37	1	45977046	45977046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45977046C>A	ENST00000262746.1	-	6	894	c.555G>T	c.(553-555)aaG>aaT	p.K185N	PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N|PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1			12	Acute lymphoblastic leukemia(166;0.155)				GGACATCAGGCTTGATGGTAT	0.498000																								0							SO:0001583	missense			ENST00000262746.1	1	1	hg19	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006155	0.74932	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.34072	1.38;1.38;1.38	5.04	3.15	0.36227	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.120922	0.56097	D	0.000025	T	0.43166	0.1235	M	0.84433	2.695	0.58432	D	0.999997	B	0.20780	0.048	B	0.22601	0.04	T	0.49844	-0.8896	10	0.62326	D	0.03	-6.1472	11.6022	0.51010	0.0:0.8526:0.0:0.1474	.	185	Q06830	PRDX1_HUMAN	N	185;185;83	ENSP00000262746:K185N;ENSP00000361152:K185N;ENSP00000361150:K83N	ENSP00000262746:K185N	K	-	3	2	PRDX1	45749633	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.067000	0.30616	1.131000	0.42111	-0.379000	0.06801	AAG		TCGA-IB-7651-01A-11D-2154-08	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	1	0	1	211	983	0	285	1	1	1042	1546	0	285	2		0	0	0	0	0	2	1	1	210	971	0	283	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994342	0.990000	1	9.800000e-01	1
NASP	4678	broad.mit.edu	37	1	46083795	46083795	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46083795T>C	ENST00000350030.3	+	15	2436	c.2349T>C	c.(2347-2349)gtT>gtC	p.V783V	NASP_ENST00000372052.4_Silent_p.V417V|CCDC17_ENST00000464739.1_5'Flank|NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Silent_p.V444V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)			17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)				GAGCTACAGTTGAAAGCACTG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000350030.3	0	1	hg19	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.621|9.621	1.133752|1.133752	0.21123|0.21123	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000534450	.|.	.|.	.|.	5.27|5.27	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|.	0.54013|.	0.1832|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48007|.	-0.9072|.	4|.	.|.	.|.	.|.	-2.7206|-2.7206	5.8944|5.8944	0.18931|0.18931	0.1872:0.0834:0.0:0.7294|0.1872:0.0834:0.0:0.7294	.|.	.|.	.|.	.|.	S|R	283|170	.|.	.|.	L|X	+|+	2|1	0|0	NASP|NASP	45856382|45856382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.149000|1.149000	0.31626|0.31626	0.954000|0.954000	0.37851|0.37851	0.460000|0.460000	0.39030|0.39030	TTG|TGA		TCGA-IB-7651-01A-11D-2154-08	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	1	0	0	10	38	0	8	1	9.999999e-01	32	162	0	8	2		0	0	0	0	0	2	1	9.979087e-01	10	38	0	8	2								-19.912530	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.620000	1.000000	0.990000	0.887850	0.900000	1	7.800000e-01	9.800000e-01
IPP	3652	broad.mit.edu	37	1	46206618	46206618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46206618G>A	ENST00000396478.3	-	3	781	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	p.R227*(1)		20	Acute lymphoblastic leukemia(166;0.155)				AAAGGGAATCGAATTGGGTCT	0.353000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000396478.3	0	1	hg19	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597542	0.96602	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.17	4.2	0.49525	.	0.249248	0.41194	D	0.000931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3396	0.66617	0.0:0.0:0.7561:0.2439	.	.	.	.	X	227	.	ENSP00000353024:R227X	R	-	1	2	IPP	45979205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.577000	0.86979	0.643000	0.83706	CGA		TCGA-IB-7651-01A-11D-2154-08	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	1	0	1	66	312	0	98	1	9.699979e-01	5	24	0	98	2		0	0	0	0	0	2	1	1	64	304	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.977138	0.970000	1	9.400000e-01	1
MAST2	23139	broad.mit.edu	37	1	46489643	46489643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46489643T>C	ENST00000361297.2	+	15	2054	c.1771T>C	c.(1771-1773)Tac>Cac	p.Y591H	MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2			11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)				GGTGATGGAGTACGTTGAAGG	0.522000																								0							SO:0001583	missense			ENST00000361297.2	1	1	hg19	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865492	0.91511	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.32753	1.44;1.44;1.44	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.991;0.996;0.999;0.998	T	0.64791	-0.6324	10	0.87932	D	0	-11.6789	15.8795	0.79193	0.0:0.0:0.0:1.0	.	265;521;265;521;591	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	H	591;521;265;476	ENSP00000354671:Y591H;ENSP00000361079:Y521H;ENSP00000361078:Y476H	ENSP00000354671:Y591H	Y	+	1	0	MAST2	46262230	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.221000	0.72209	0.454000	0.30748	TAC		TCGA-IB-7651-01A-11D-2154-08	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	1	0	1	38	193	0	58	1	9.999204e-01	4	72	0	58	2		0	0	0	0	0	2	1	1	38	193	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.957565	0.960000	1	9.100000e-01	1
MAST2	23139	broad.mit.edu	37	1	46497062	46497062	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46497062G>T	ENST00000361297.2	+	24	3275		c.e24-1		MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2			11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)				TGGGCCTACAGCTATGGAGAC	0.657000																								0							SO:0001630	splice_region_variant			ENST00000361297.2	1	1	hg19	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977123	0.53720	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0003	0.80288	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAST2	46269649	0.998000	0.40836	1.000000	0.80357	0.914000	0.54420	5.075000	0.64407	2.626000	0.88956	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	1	0	1	63	169	0	36	1	7.565012e-02	2	0	0	36	2		0	0	0	0	0	2	1	1	63	168	0	36	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983109	0.980000	1	9.600000e-01	1
MAST2	23139	broad.mit.edu	37	1	46500837	46500837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46500837G>A	ENST00000361297.2	+	29	4779	c.4496G>A	c.(4495-4497)cGt>cAt	p.R1499H	MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2			11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)				GAAGCCATTCGTGAGGTGGAC	0.647000																								0							SO:0001583	missense			ENST00000361297.2	1	1	hg19	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.029744	0.35797	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625	T;T	0.66099	-0.12;-0.19	4.32	4.32	0.51571	.	0.209202	0.37715	N	0.001979	T	0.49115	0.1538	L	0.29908	0.895	0.27728	N	0.944905	B;B	0.23490	0.086;0.086	B;B	0.12837	0.008;0.007	T	0.46898	-0.9158	10	0.41790	T	0.15	-4.8552	13.9857	0.64334	0.0:0.1524:0.8476:0.0	.	1309;1499	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	H	1499;1309;186	ENSP00000354671:R1499H;ENSP00000361079:R1309H	ENSP00000354671:R1499H	R	+	2	0	MAST2	46273424	0.997000	0.39634	0.988000	0.46212	0.725000	0.41563	2.700000	0.47085	2.417000	0.82017	0.454000	0.30748	CGT		TCGA-IB-7651-01A-11D-2154-08	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	0	0	0	8	215	0	44	0	6.849122e-01	0	63	0	44	2		0	0	0	0	0	2	1	9.895572e-01	8	214	0	44	2								-9.879294	1	1	121108	1	32	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.390000	0.180000	0.680000	0.370000	0.411623	0.390000	0	2.700000e-01	5.400000e-01
PIK3R3	8503	broad.mit.edu	37	1	46509480	46509480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46509480C>T	ENST00000262741.5	-	10	1940	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E	PIK3R3_ENST00000354242.4_Silent_p.E358E|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000372006.1_Silent_p.E417E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)			14	Acute lymphoblastic leukemia(166;0.155)			Isoprenaline(DB01064)	GGTTGTAGGGCTCTGCAAAGC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000262741.5	1	1	hg19	CCDS529.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	1	0	0	31	139	0	43	1	9.973595e-01	4	41	0	43	2		0	0	0	0	0	2	1	1	30	135	0	43	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.953344	0.960000	1	9.000000e-01	9.900000e-01
PIK3R3	8503	broad.mit.edu	37	1	46527716	46527716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46527716C>T	ENST00000262741.5	-	6	1338	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)			14	Acute lymphoblastic leukemia(166;0.155)			Isoprenaline(DB01064)	TTAAAAGCTTCTATTGCAGTC	0.333000																								0							SO:0001583	missense			ENST00000262741.5	1	1	hg19	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110001	0.94292	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;D;D;T;D	0.86627	-1.4;-1.4;-1.4;-1.59;-2.15;-1.37;-1.59	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	M	0.86953	2.85	0.80722	D	1	P;D;P;P	0.53619	0.803;0.961;0.897;0.507	P;P;P;B	0.54100	0.612;0.742;0.686;0.296	D	0.93558	0.6892	10	0.87932	D	0	.	15.1844	0.72989	0.0:0.9324:0.0:0.0676	.	263;250;217;217	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	217;217;217;217;181;263;217	ENSP00000361075:E217K;ENSP00000262741:E217K;ENSP00000412546:E217K;ENSP00000346188:E217K;ENSP00000342484:E181K;ENSP00000439913:E263K;ENSP00000391431:E217K	ENSP00000262741:E217K	E	-	1	0	PIK3R3	46300303	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	1.481000	0.48307	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	1	0	0	88	315	0	77	0	9.260125e-01	1	17	0	77	2		0	0	0	0	0	2	1	1	88	313	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986668	0.980000	1	9.600000e-01	1
POMGNT1	55624	broad.mit.edu	37	1	46656157	46656157	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46656157T>C	ENST00000371984.3	-	19	1794	c.1637A>G	c.(1636-1638)cAc>cGc	p.H546R	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.H546R|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)			20	Acute lymphoblastic leukemia(166;0.155)				GAGCAGCCTGTGAACTTCCAC	0.527000																								0							SO:0001583	missense			ENST00000371984.3	1	1	hg19	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920763	0.33908	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;D;T;D	0.85013	-0.29;-1.93;-0.29;-1.93	5.53	4.3	0.51218	.	0.104769	0.64402	D	0.000003	T	0.70833	0.3269	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.20550	0.007;0.046;0.003;0.002	B;B;B;B	0.15870	0.011;0.009;0.011;0.014	T	0.65434	-0.6169	10	0.15066	T	0.55	-21.8027	12.0904	0.53722	0.1376:0.0:0.0:0.8624	.	524;546;403;546	F5H827;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;PMGT1_HUMAN	R	546;546;524;546	ENSP00000361052:H546R;ENSP00000361060:H546R;ENSP00000443767:H524R;ENSP00000361054:H546R	ENSP00000361052:H546R	H	-	2	0	POMGNT1	46428744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.170000	0.50816	2.124000	0.65301	0.459000	0.35465	CAC		TCGA-IB-7651-01A-11D-2154-08	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	1	0	0	132	1283	0	290	1	9.999936e-01	32	126	0	290	2		0	0	0	0	0	2	1	1	127	1250	0	286	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.820000	1.000000	0.990000	0.939066	0.940000	1	8.800000e-01	9.900000e-01
POMGNT1	55624	broad.mit.edu	37	1	46657980	46657980	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46657980C>A	ENST00000371984.3	-	16	1570	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Splice_Site_p.K471N|POMGNT1_ENST00000371986.3_Splice_Site_p.K471N|POMGNT1_ENST00000535522.1_Splice_Site_p.K449N	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)			20	Acute lymphoblastic leukemia(166;0.155)				TGACAGTTACCTTTTCCGGTG	0.572000																								0							SO:0001630	splice_region_variant			ENST00000371984.3	1	0	hg19	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015422	0.75161	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T	0.33654	1.43;1.4;1.43;1.4	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.49350	1.555	0.80722	D	1	D;D;D;D;P;D	0.54397	0.958;0.966;0.966;0.966;0.829;0.966	P;P;P;P;P;P	0.53313	0.547;0.723;0.676;0.676;0.583;0.676	T	0.15435	-1.0437	9	.	.	.	-24.6181	13.6145	0.62099	0.0:0.9294:0.0:0.0706	.	449;449;449;471;328;471	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	N	471;471;449;471	ENSP00000361052:K471N;ENSP00000361060:K471N;ENSP00000443767:K449N;ENSP00000361054:K471N	.	K	-	3	2	POMGNT1	46430567	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.655000	0.61476	2.843000	0.97960	0.585000	0.79938	AAG		TCGA-IB-7651-01A-11D-2154-08	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	1	0	1	40	316	1	102	1	9.843576e-01	6	108	1	102	6		0	0	0	0	0	2	1	9.999704e-01	38	312	1	101	13								-3.318796	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.760000	1.000000	0.990000	0.928630	0.930000	1	8.600000e-01	9.900000e-01
POMGNT1	55624	broad.mit.edu	37	1	46663544	46663544	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46663544C>A	ENST00000371984.3	-	2	108		c.e2-1		POMGNT1_ENST00000396420.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site|POMGNT1_ENST00000371986.3_Splice_Site|POMGNT1_ENST00000535522.1_5'Flank	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)			20	Acute lymphoblastic leukemia(166;0.155)				CTTCAGGAATCTGAAGGGACC	0.592000																								0							SO:0001630	splice_region_variant			ENST00000371984.3	1	1	hg19	CCDS531.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	1	0	1	45	181	0	48	1	9.366546e-01	18	3	0	48	2		0	0	0	0	0	2	1	1	45	177	0	48	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.969907	0.970000	1	9.300000e-01	1
RAD54L	8438	broad.mit.edu	37	1	46714235	46714235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46714235T>G	ENST00000371975.4	+	2	729	c.55T>G	c.(55-57)Tcc>Gcc	p.S19A	RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)			25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)			TGAAGGCAGGTCCTGTGATGA	0.547000								Direct reversal of damage;Homologous recombination																0							SO:0001583	missense			ENST00000371975.4	1	1	hg19	CCDS532.1	.	.	.	.	.	.	.	.	.	.	T	4.225	0.040707	0.08196	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	-3.48	0.04739	.	1.052970	0.07322	N	0.877717	T	0.71307	0.3324	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60021	-0.7344	10	0.08179	T	0.78	1.6501	6.677	0.23100	0.0:0.1292:0.3674:0.5034	.	19	Q92698	RAD54_HUMAN	A	19	ENSP00000396113:S19A;ENSP00000361043:S19A	ENSP00000361043:S19A	S	+	1	0	RAD54L	46486822	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.654000	0.05354	-0.283000	0.09115	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	1	0	1	19	178	0	53	1	1.176448e-01	2	4	0	53	2		0	0	0	0	0	2	1	9.999927e-01	19	177	0	53	2								-8.788609	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.860000	0.590000	1.000000	0.990000	0.851281	0.860000	1	7.300000e-01	9.600000e-01
RAD54L	8438	broad.mit.edu	37	1	46733150	46733150	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46733150C>A	ENST00000371975.4	+	9	1585	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)			25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)			CTCAAGAACTCTGAGAATCAG	0.502000								Direct reversal of damage;Homologous recombination																0							SO:0001583	missense			ENST00000371975.4	1	1	hg19	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981784	0.93044	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93604	-3.25;-3.25	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.054494	0.85682	D	0.000000	D	0.95313	0.8479	M	0.74389	2.26	0.80722	D	1	P;P	0.47841	0.858;0.901	B;P	0.51701	0.25;0.677	D	0.95438	0.8523	10	0.59425	D	0.04	-13.6725	19.0329	0.92965	0.0:1.0:0.0:0.0	.	124;304	G3V1N0;Q92698	.;RAD54_HUMAN	Y	304;304;124	ENSP00000396113:S304Y;ENSP00000361043:S304Y	ENSP00000361043:S304Y	S	+	2	0	RAD54L	46505737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.486000	0.83907	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	1	0	1	83	278	0	69	0	7.077305e-01	0	10	0	69	2		0	0	0	0	0	2	1	1	78	269	0	68	2								-4.008935	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986296	0.980000	1	9.600000e-01	1
RAD54L	8438	broad.mit.edu	37	1	46739361	46739361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46739361C>T	ENST00000371975.4	+	14	2226	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	RAD54L_ENST00000442598.1_Silent_p.L518L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)			25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)			CAAAGTAGTGCTGGTGTCGAA	0.537000								Direct reversal of damage;Homologous recombination																0							SO:0001819	synonymous_variant			ENST00000371975.4	0	1	hg19	CCDS532.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	1	0	1	16	97	0	15	0	3.902663e-01	1	8	0	15	2		0	0	0	0	0	2	1	9.999490e-01	15	96	0	15	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.670000	1.000000	0.990000	0.898187	0.910000	1	8.000000e-01	9.800000e-01
RAD54L	8438	broad.mit.edu	37	1	46743903	46743903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46743903C>T	ENST00000371975.4	+	18	2867	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	RAD54L_ENST00000442598.1_Silent_p.I731I|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)			25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)			CCACTGCCATCACCTTCGTCT	0.587000								Direct reversal of damage;Homologous recombination																0							SO:0001819	synonymous_variant			ENST00000371975.4	1	1	hg19	CCDS532.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	1	0	1	29	106	0	28	1	9.166774e-01	7	11	0	28	2		0	0	0	0	0	2	1	1	27	105	0	27	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.955967	0.960000	1	9.100000e-01	1
NSUN4	387338	broad.mit.edu	37	1	46827244	46827244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827244C>A	ENST00000474844.1	+	6	1531	c.881C>A	c.(880-882)gCt>gAt	p.A294D	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4			8	Acute lymphoblastic leukemia(166;0.155)				GGTTTCAGGGCTGGACTCCTT	0.493000																								0							SO:0001583	missense			ENST00000474844.1	1	1	hg19	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304266	0.81136	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.27402	1.67;1.67;1.67	5.43	5.43	0.79202	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	M	0.84082	2.675	0.80722	D	1	D;D	0.65815	0.995;0.985	D;P	0.63877	0.919;0.889	T	0.61821	-0.6984	10	0.62326	D	0.03	-13.8516	17.5969	0.88014	0.0:1.0:0.0:0.0	.	161;294	B3KUM0;Q96CB9	.;NSUN4_HUMAN	D	294;245;245	ENSP00000419740:A294D;ENSP00000438912:A245D;ENSP00000437758:A245D	ENSP00000419740:A294D	A	+	2	0	NSUN4	46599831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.824000	0.97209	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	0	0	1	36	303	0	88	1	9.967098e-01	9	67	0	88	2		0	0	0	0	0	2	1	1	36	297	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.913694	0.920000	1	8.300000e-01	9.800000e-01
NSUN4	387338	broad.mit.edu	37	1	46827361	46827361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827361G>T	ENST00000474844.1	+	6	1648	c.998G>T	c.(997-999)aGc>aTc	p.S333I	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4			8	Acute lymphoblastic leukemia(166;0.155)				AATCAATACAGCATCCAGGTA	0.478000																								0							SO:0001583	missense			ENST00000474844.1	1	1	hg19	CCDS534.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596087	0.46318	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.14893	2.47;2.48;2.48	5.43	0.566	0.17317	.	0.254757	0.47455	D	0.000236	T	0.19967	0.0480	L	0.46157	1.445	0.09310	N	1	P;B	0.44281	0.831;0.004	P;B	0.48552	0.581;0.044	T	0.07558	-1.0766	10	0.49607	T	0.09	-2.0149	10.326	0.43793	0.4737:0.0:0.5263:0.0	.	200;333	B3KUM0;Q96CB9	.;NSUN4_HUMAN	I	333;284;284	ENSP00000419740:S333I;ENSP00000438912:S284I;ENSP00000437758:S284I	ENSP00000419740:S333I	S	+	2	0	NSUN4	46599948	0.610000	0.26983	0.991000	0.47740	0.495000	0.33615	0.270000	0.18607	0.239000	0.21243	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	1	0	1	118	468	0	140	1	9.999989e-01	20	59	0	140	2		0	0	0	0	0	2	1	1	114	458	0	138	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989899	0.980000	1	9.700000e-01	1
NSUN4	387338	broad.mit.edu	37	1	46827478	46827478	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827478T>C	ENST00000474844.1	+	6	1765	c.1115T>C	c.(1114-1116)tTt>tCt	p.F372S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4			8	Acute lymphoblastic leukemia(166;0.155)				ATGGCCAATTTTGGCCCCATG	0.453000																								0							SO:0001583	missense			ENST00000474844.1	1	1	hg19	CCDS534.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805739	0.70682	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.09073	3.02;3.02;3.02	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.71414	0.973;0.889	T	0.02464	-1.1155	10	0.51188	T	0.08	-16.6586	15.6414	0.77006	0.0:0.0:0.0:1.0	.	239;372	B3KUM0;Q96CB9	.;NSUN4_HUMAN	S	372;323;323	ENSP00000419740:F372S;ENSP00000438912:F323S;ENSP00000437758:F323S	ENSP00000419740:F372S	F	+	2	0	NSUN4	46600065	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.075000	0.71261	2.279000	0.76181	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	1	0	1	44	193	0	54	1	9.997685e-01	20	39	0	54	2		0	0	0	0	0	2	1	1	44	190	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.967301	0.970000	1	9.300000e-01	1
DMBX1	127343	broad.mit.edu	37	1	46976890	46976890	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46976890A>G	ENST00000360032.3	+	3	631	c.617A>G	c.(616-618)aAa>aGa	p.K206R	DMBX1_ENST00000371956.4_Missense_Mutation_p.K211R	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1			17	Acute lymphoblastic leukemia(166;0.155)				GAGGACCCCAAAGCTGAGAAG	0.662000																								0							SO:0001583	missense			ENST00000360032.3	1	1	hg19	CCDS536.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117722	0.37339	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93712	-3.19;-3.27	4.84	3.72	0.42706	.	0.138526	0.64402	D	0.000006	D	0.86719	0.6000	L	0.31926	0.97	0.51012	D	0.999908	B;B	0.21452	0.034;0.056	B;B	0.23275	0.02;0.045	T	0.79992	-0.1569	10	0.13853	T	0.58	.	9.1239	0.36803	0.9133:0.0:0.0867:0.0	.	211;206	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	R	211;206	ENSP00000361024:K211R;ENSP00000353132:K206R	ENSP00000353132:K206R	K	+	2	0	DMBX1	46749477	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	7.175000	0.77632	1.827000	0.53221	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1	0	0	0	39	101	0	26	0	0	1	0	0	26	2		0	0	0	0	0	2	1	1	39	98	0	25	2								-20.000000	1	1	120872	1	31	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.971819	0.970000	1	9.300000e-01	1
KNCN	148930	broad.mit.edu	37	1	47016857	47016857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47016857G>A	ENST00000481882.2	-	1	342	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	KNCN_ENST00000524908.1_5'Flank|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin			4	Acute lymphoblastic leukemia(166;0.155)				TGCAGGCCGCGGAAGTCTCTG	0.642000																								0							SO:0001583	missense			ENST00000481882.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.79	1.745108	0.30955	.	.	ENSG00000162456	ENST00000481882;ENST00000396314	T	0.70282	-0.47	5.39	4.48	0.54585	.	.	.	.	.	T	0.62282	0.2415	.	.	.	0.37725	D	0.925069	B	0.13145	0.007	B	0.10450	0.005	T	0.63804	-0.6554	8	0.87932	D	0	-4.4966	10.1114	0.42565	0.0926:0.0:0.9074:0.0	.	11	A6PVL3-2	.	C	11	ENSP00000419705:R11C	ENSP00000379607:R11C	R	-	1	0	KNCN	46789444	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	3.772000	0.55325	1.278000	0.44430	-0.140000	0.14226	CGC		TCGA-IB-7651-01A-11D-2154-08	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	1	0	1	58	434	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	58	427	0	82	2								-2.716734	1	1	120988	1	28	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.951743	0.950000	1	9.000000e-01	9.900000e-01
CYP4B1	1580	broad.mit.edu	37	1	47279186	47279186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279186G>A	ENST00000271153.4	+	5	564	c.528G>A	c.(526-528)aaG>aaA	p.K176K	CYP4B1_ENST00000371919.4_Silent_p.K161K|CYP4B1_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1			36	Acute lymphoblastic leukemia(166;0.155)			Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GGGAGGGTAAGTCCTTTGACA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000271153.4	1	1	hg19	CCDS542.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	1	0	0	25	222	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.999999e-01	25	218	0	49	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.650000	1.000000	0.990000	0.881619	0.890000	1	7.800000e-01	9.700000e-01
CYP4B1	1580	broad.mit.edu	37	1	47279222	47279222	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279222G>A	ENST00000271153.4	+	5	600	c.564G>A	c.(562-564)gcG>gcA	p.A188A	CYP4B1_ENST00000371919.4_Silent_p.A173A|CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1			36	Acute lymphoblastic leukemia(166;0.155)			Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GTCACATGGCGCTGAACACAC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000271153.4	1	1	hg19	CCDS542.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	1	0	1	54	234	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	1	52	226	0	61	2								-20.000000	1	0	121410	1	32	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.973733	0.970000	1	9.400000e-01	1
CYP4X1	260293	broad.mit.edu	37	1	47495763	47495763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47495763C>T	ENST00000371901.3	+	2	529	c.279C>T	c.(277-279)atC>atT	p.I93I	CYP4X1_ENST00000538609.1_Silent_p.I92I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1			17					TTTTCTGTATCTATGACCCAG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000371901.3	1	1	hg19	CCDS544.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	1	0	1	58	451	0	119	0	1.467794e-01	0	6	0	119	2		0	0	0	0	0	2	1	1	56	439	0	119	2								-3.142702	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.947850	0.950000	1	8.900000e-01	9.900000e-01
CYP4Z1	199974	broad.mit.edu	37	1	47533229	47533229	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47533229T>G	ENST00000334194.3	+	1	70	c.67T>G	c.(67-69)Tct>Gct	p.S23A		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1			11					CCTCTGCATGTCTCTGCTGCT	0.557000																								0							SO:0001583	missense			ENST00000334194.3	1	1	hg19	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.297443	0.01364	.	.	ENSG00000186160	ENST00000334194	T	0.68903	-0.36	3.29	-0.545	0.11843	.	0.321368	0.22204	U	0.063190	T	0.33469	0.0864	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25222	-1.0138	10	0.19147	T	0.46	.	8.8238	0.35043	0.0:0.0:0.3568:0.6432	.	23	Q86W10	CP4Z1_HUMAN	A	23	ENSP00000334246:S23A	ENSP00000334246:S23A	S	+	1	0	CYP4Z1	47305816	0.000000	0.05858	0.112000	0.21494	0.073000	0.16967	-0.537000	0.06128	0.036000	0.15547	0.378000	0.23410	TCT		TCGA-IB-7651-01A-11D-2154-08	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	1	0	0	25	209	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	9.999999e-01	24	205	0	50	2								-11.142610	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.670000	1.000000	0.990000	0.892523	0.900000	1	7.900000e-01	9.800000e-01
CYP4A22	284541	broad.mit.edu	37	1	47610579	47610579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47610579C>T	ENST00000371891.3	+	9	1190	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22			22					CCCACCGGTGCCAGGCATTGG	0.557000													Pancreas(88;1240 1470 2099 14214 37557)											0							SO:0001583	missense			ENST00000371891.3	1	1	hg19	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	15.95	2.985172	0.53934	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.73047	-0.63;-0.71;-0.71	1.51	1.51	0.23008	.	0.049915	0.85682	D	0.000000	T	0.78188	0.4244	M	0.78049	2.395	0.40862	D	0.983847	B;B	0.29671	0.236;0.254	P;B	0.48304	0.573;0.438	T	0.79249	-0.1881	10	0.87932	D	0	.	8.7264	0.34471	0.226:0.7739:0.0:0.0	.	289;387	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	S	289;387;387	ENSP00000360957:P289S;ENSP00000360958:P387S;ENSP00000294337:P387S	ENSP00000294337:P387S	P	+	1	0	CYP4A22	47383166	0.674000	0.27549	0.015000	0.15790	0.465000	0.32709	2.614000	0.46359	0.842000	0.35045	0.194000	0.17425	CCA		TCGA-IB-7651-01A-11D-2154-08	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	1	0	1	58	167	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	57	164	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980882	0.980000	1	9.500000e-01	1
TAL1	6886	broad.mit.edu	37	1	47685563	47685563	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47685563C>T	ENST00000294339.3	-	4	1401	c.825G>A	c.(823-825)gcG>gcA	p.A275A	TAL1_ENST00000371883.3_Silent_p.A277A|TAL1_ENST00000371884.2_Silent_p.A275A|TAL1_ENST00000459729.1_5'UTR	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1			15					CATCTGGGGGCGCGccgcccc	0.701000			T	TRD@, SIL	lymphoblastic leukemia/biphasic										Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0							SO:0001819	synonymous_variant			ENST00000294339.3	1	1	hg19	CCDS547.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	1	0	0	43	140	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1	43	132	0	21	2								-20.000000	1	1	117932	8	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972013	0.970000	1	9.400000e-01	1
AJAP1	55966	broad.mit.edu	37	1	4772030	4772030	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772030C>A	ENST00000378191.4	+	2	481	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1			24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)			CATGTTTCAGCTCGCCGTGGA	0.706000																								0							SO:0001583	missense			ENST00000378191.4	1	1	hg19	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772168	0.90108	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.60797	0.16;0.16	5.08	5.08	0.68730	.	0.077313	0.50627	D	0.000116	T	0.65760	0.2722	L	0.32530	0.975	0.53005	D	0.999967	D	0.76494	0.999	D	0.80764	0.994	T	0.68006	-0.5523	10	0.59425	D	0.04	-18.5667	13.9496	0.64109	0.0:1.0:0.0:0.0	.	34	Q9UKB5	AJAP1_HUMAN	I	34	ENSP00000367432:L34I;ENSP00000367433:L34I	ENSP00000367432:L34I	L	+	1	0	AJAP1	4671890	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.198000	0.58419	2.322000	0.78497	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	1	0	0	159	1487	0	259	0	9.467630e-03	0	2	0	259	2		0	0	0	0	0	2	1	1	159	1470	0	254	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.850000	1.000000	0.990000	0.954911	0.950000	1	9.100000e-01	9.900000e-01
AJAP1	55966	broad.mit.edu	37	1	4772744	4772744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772744C>A	ENST00000378191.4	+	2	1195	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1			24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)			CCCAAGGATTCTGGGGGAGGC	0.602000																								0							SO:0001583	missense			ENST00000378191.4	1	1	hg19	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614309	0.46631	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45668	0.89;0.89	5.14	4.23	0.50019	.	0.583699	0.15838	N	0.242159	T	0.44787	0.1310	L	0.27053	0.805	0.27055	N	0.963683	D	0.64830	0.994	P	0.60682	0.878	T	0.23013	-1.0200	10	0.41790	T	0.15	-3.634	9.2565	0.37586	0.0:0.8999:0.0:0.1001	.	272	Q9UKB5	AJAP1_HUMAN	M	272	ENSP00000367432:L272M;ENSP00000367433:L272M	ENSP00000367432:L272M	L	+	1	2	AJAP1	4672604	0.705000	0.27846	0.994000	0.49952	0.948000	0.59901	1.026000	0.30103	1.149000	0.42402	0.467000	0.42956	CTG		TCGA-IB-7651-01A-11D-2154-08	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	1	0	0	50	520	0	145	0	2.569419e-01	0	11	0	145	2		0	0	0	0	0	2	1	1	49	512	0	144	2								-13.955030	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.880000	0.690000	1.000000	0.930000	0.878755	0.880000	1	7.800000e-01	9.600000e-01
STIL	6491	broad.mit.edu	37	1	47746463	47746463	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47746463G>T	ENST00000360380.3	-	13	2030	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	STIL_ENST00000371877.3_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y|STIL_ENST00000337817.5_Missense_Mutation_p.S556Y	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus			36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)			ATTAAGTGTGGAGGGTCTTAT	0.408000																								0							SO:0001583	missense			ENST00000360380.3	1	1	hg19	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642910	0.47153	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.53423	1.98;1.98;1.99;1.97;1.98;0.62	5.1	4.18	0.49190	.	0.275883	0.35838	N	0.002956	T	0.52757	0.1754	L	0.32530	0.975	0.20196	N	0.999925	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.993;0.993	P;D;D;P;P	0.66497	0.804;0.944;0.912;0.804;0.804	T	0.40869	-0.9540	10	0.62326	D	0.03	-8.4972	10.424	0.44367	0.1501:0.0:0.8499:0.0	.	556;509;556;556;556	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	Y	556;556;556;556;556;509	ENSP00000353544:S556Y;ENSP00000337367:S556Y;ENSP00000360944:S556Y;ENSP00000379523:S556Y;ENSP00000243182:S556Y;ENSP00000411664:S509Y	ENSP00000243182:S556Y	S	-	2	0	STIL	47519050	0.997000	0.39634	0.536000	0.28039	0.760000	0.43138	3.054000	0.49908	2.383000	0.81215	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	1	166	546	0	134	1	9.549992e-01	9	10	0	134	2		0	0	0	0	0	2	1	1	165	539	0	134	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994288	0.990000	1	9.800000e-01	1
STIL	6491	broad.mit.edu	37	1	47753293	47753293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47753293G>A	ENST00000360380.3	-	11	1426	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	STIL_ENST00000371877.3_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L|STIL_ENST00000337817.5_Silent_p.L355L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus			36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)			TCAGCGCTCAGTTCACAACGG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000360380.3	1	1	hg19	CCDS548.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	1	22	115	0	33	1	7.530011e-01	6	10	0	33	2		0	0	0	0	0	2	1	9.999993e-01	22	114	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.750000	1.000000	0.990000	0.929348	0.940000	1	8.600000e-01	9.900000e-01
STIL	6491	broad.mit.edu	37	1	47759187	47759187	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47759187C>A	ENST00000360380.3	-	9	1178	c.815G>T	c.(814-816)aGt>aTt	p.S272I	STIL_ENST00000371877.3_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I|STIL_ENST00000337817.5_Missense_Mutation_p.S272I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus			36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)			TACCTGAGGACTATAGATATG	0.318000																								0							SO:0001583	missense			ENST00000360380.3	1	1	hg19	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677186	0.88445	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.75	5.75	0.90469	.	0.117689	0.85682	D	0.000000	T	0.71264	0.3319	M	0.76574	2.34	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.73177	-0.4065	10	0.87932	D	0	-17.9631	19.9662	0.97271	0.0:1.0:0.0:0.0	.	272;225;272;272;272	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	I	272;272;272;272;272;225	ENSP00000353544:S272I;ENSP00000337367:S272I;ENSP00000360944:S272I;ENSP00000379523:S272I;ENSP00000243182:S272I;ENSP00000411664:S225I	ENSP00000243182:S272I	S	-	2	0	STIL	47531774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.876000	0.39588	2.701000	0.92244	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	1	93	305	0	139	1	3.357267e-01	4	1	0	139	2		0	0	0	0	0	2	1	1	92	296	0	138	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988176	0.980000	1	9.700000e-01	1
STIL	6491	broad.mit.edu	37	1	47767944	47767944	+	Missense_Mutation	SNP	G	G	A	rs147160336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47767944G>A	ENST00000360380.3	-	5	590	c.227C>T	c.(226-228)tCg>tTg	p.S76L	STIL_ENST00000371877.3_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L|STIL_ENST00000337817.5_Missense_Mutation_p.S76L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus			36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)			AAAGCATGACGAATTTTTTTT	0.413000																								0							SO:0001583	missense			ENST00000360380.3	1	1	hg19	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420075	0.01136	2.27E-4	3.49E-4	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475;ENST00000413565	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.42	3.12	0.35913	.	0.418972	0.25723	N	0.028724	T	0.07908	0.0198	N	0.00289	-1.7	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.33727	-0.9857	10	0.12103	T	0.63	0.1076	6.5954	0.22669	0.6468:0.0:0.3532:0.0	.	76;76;76;76;76	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	L	76;76;76;76;76;76;80	ENSP00000353544:S76L;ENSP00000337367:S76L;ENSP00000360944:S76L;ENSP00000379523:S76L;ENSP00000243182:S76L;ENSP00000411664:S76L;ENSP00000412019:S80L	ENSP00000243182:S76L	S	-	2	0	STIL	47540531	0.582000	0.26749	0.384000	0.26145	0.240000	0.25518	3.262000	0.51538	0.374000	0.24650	-0.391000	0.06502	TCG		TCGA-IB-7651-01A-11D-2154-08	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	0	11	243	0	56	0	4.153169e-02	0	7	0	56	2		0	0	0	0	0	2	1	9.981737e-01	11	236	0	56	2								-3.155205	1	1	121412	13	44	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.460000	0.240000	0.750000	0.450000	0.484747	0.460000	0	3.400000e-01	6.100000e-01
FOXD2	2306	broad.mit.edu	37	1	47904305	47904305	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47904305G>T	ENST00000334793.5	+	1	2617	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2			4					ACTACCGGGAGAAGTTCCCCG	0.627000																								0							SO:0001583	missense			ENST00000334793.5	1	1	hg19	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354318	0.61293	0.0	2.33E-4	ENSG00000186564	ENST00000334793	D	0.95588	-3.75	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.92100	0.7496	N	0.04245	-0.25	0.50632	D	0.999888	B	0.24963	0.115	B	0.44224	0.444	D	0.90273	0.4309	10	0.46703	T	0.11	.	15.2933	0.73882	0.0:0.0:1.0:0.0	.	166	O60548	FOXD2_HUMAN	D	166	ENSP00000335493:E166D	ENSP00000335493:E166D	E	+	3	2	FOXD2	47676892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.357000	0.52277	1.861000	0.53984	0.430000	0.28490	GAG		TCGA-IB-7651-01A-11D-2154-08	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	1	0	0	68	507	0	140	0	1.125027e-01	1	4	0	140	2		0	0	0	0	0	2	1	1	66	495	0	138	2								-20.000000	1	1	121412	6	41	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.958126	0.960000	1	9.100000e-01	1
SLC5A9	200010	broad.mit.edu	37	1	48695003	48695003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48695003G>A	ENST00000438567.2	+	4	428	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I|SLC5A9_ENST00000236495.5_Missense_Mutation_p.V151I|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9			26					CTGGGTCTTCGTCCCTGTGTA	0.582000																								0							SO:0001583	missense			ENST00000438567.2	1	1	hg19	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221494	0.58560	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.74	4.83	0.62350	.	0.118460	0.64402	N	0.000018	D	0.87924	0.6300	M	0.62266	1.93	0.58432	D	0.999999	D;P;D	0.58620	0.983;0.924;0.971	P;P;P	0.49477	0.523;0.495;0.612	D	0.86947	0.2083	10	0.35671	T	0.21	.	13.9411	0.64054	0.0724:0.0:0.9276:0.0	.	147;126;151	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	I	147;126;151;119	ENSP00000431900:V147I;ENSP00000401730:V126I;ENSP00000236495:V151I;ENSP00000408881:V119I	ENSP00000236495:V151I	V	+	1	0	SLC5A9	48467590	0.971000	0.33674	0.982000	0.44146	0.972000	0.66771	1.612000	0.36889	1.581000	0.49865	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	1	0	0	27	256	0	55	0	2.780326e-02	0	3	0	55	2		0	0	0	0	0	2	1	9.999999e-01	26	246	0	55	2								-20.000000	1	1	121412	19	44	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.640000	1.000000	0.990000	0.872341	0.880000	1	7.600000e-01	9.700000e-01
SLC5A9	200010	broad.mit.edu	37	1	48705156	48705156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48705156G>A	ENST00000438567.2	+	12	1676	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T|SLC5A9_ENST00000236495.5_Missense_Mutation_p.A567T	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9			26					CGGGCTCACTGCCATCGTCAT	0.567000																								0							SO:0001583	missense			ENST00000438567.2	1	1	hg19	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886502	0.33348	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	T;T;T	0.79554	-1.28;-1.28;-1.28	5.3	3.4	0.38934	.	0.589185	0.19332	N	0.116873	T	0.65386	0.2686	N	0.20685	0.6	0.09310	N	0.999993	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.50508	-0.8820	10	0.22109	T	0.4	.	10.7877	0.46415	0.2142:0.0:0.7858:0.0	.	563;542;567	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	T	563;542;567	ENSP00000431900:A563T;ENSP00000401730:A542T;ENSP00000236495:A567T	ENSP00000236495:A567T	A	+	1	0	SLC5A9	48477743	0.001000	0.12720	0.762000	0.31397	0.942000	0.58702	0.943000	0.29030	1.458000	0.47871	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	1	0	1	81	675	0	142	0	0	0	1	0	142	2		0	0	0	0	0	2	1	1	82	663	0	141	2								-19.999990	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.830000	1.000000	0.990000	0.952599	0.950000	1	9.000000e-01	9.900000e-01
AGBL4	84871	broad.mit.edu	37	1	49052677	49052677	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:49052677G>T	ENST00000371839.1	-	11	1382	c.1266C>A	c.(1264-1266)gcC>gcA	p.A422A	AGBL4_ENST00000334103.7_Splice_Site_p.A155A	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4			15					TAAGGATACAGGCTTCTTCAG	0.567000																								0							SO:0001630	splice_region_variant			ENST00000371839.1	0	1	hg19	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020974	0.35606	.	.	ENSG00000186094	ENST00000416121	.	.	.	5.77	3.91	0.45181	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52793	-0.8528	4	.	.	.	-4.1408	7.8083	0.29215	0.1422:0.0:0.7256:0.1322	.	.	.	.	H	268	.	.	P	-	2	0	AGBL4	48825264	0.999000	0.42202	1.000000	0.80357	0.877000	0.50540	0.334000	0.19787	0.796000	0.33947	0.448000	0.29417	CCT		TCGA-IB-7651-01A-11D-2154-08	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	0	0	0	4	56	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	8.887070e-01	4	55	0	15	2								-8.758585	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.630000	0.230000	0.970000	0.640000	0.634225	0.630000	0	4.000000e-01	8.600000e-01
ELAVL4	1996	broad.mit.edu	37	1	50663102	50663102	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50663102C>A	ENST00000371823.4	+	6	960	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELAVL4_ENST00000357083.4_Splice_Site_p.L263M|ELAVL4_ENST00000371821.1_Splice_Site_p.L251M|ELAVL4_ENST00000371824.1_Splice_Site_p.L246M|ELAVL4_ENST00000371819.1_Splice_Site_p.L251M|ELAVL4_ENST00000371827.1_Splice_Site_p.L246M|ELAVL4_ENST00000448907.2_Splice_Site_p.L249M	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4			32					TCTTTGCAGGCTGGACAATTT	0.418000																								0							SO:0001630	splice_region_variant			ENST00000371823.4	1	0	hg19	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056865	0.76074	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.09630	3.01;3.0;2.98;2.99;2.99;2.96;2.99	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.23094	0.0558	L	0.47716	1.5	0.80722	D	1	P;D;P;P;P;P;P	0.54397	0.748;0.966;0.824;0.836;0.905;0.837;0.748	B;P;P;B;P;P;B	0.55999	0.326;0.702;0.789;0.326;0.693;0.525;0.326	T	0.00053	-1.2186	10	0.31617	T	0.26	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	251;251;246;246;263;246;249	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	M	249;246;263;246;246;251;251	ENSP00000399939:L249M;ENSP00000360892:L246M;ENSP00000349594:L263M;ENSP00000360889:L246M;ENSP00000360888:L246M;ENSP00000360886:L251M;ENSP00000360884:L251M	ENSP00000349594:L263M	L	+	1	2	ELAVL4	50435689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.941000	0.99782	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	1	0	0	49	446	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1	47	435	0	135	2								-15.369280	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.740000	1.000000	0.990000	0.915485	0.920000	1	8.400000e-01	9.800000e-01
DMRTA2	63950	broad.mit.edu	37	1	50884924	50884924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50884924C>T	ENST00000404795.3	-	3	1434	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	DMRTA2_ENST00000418121.1_Missense_Mutation_p.E348K	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2			6					AGCACCTGCTCGATGGCCTGC	0.716000													Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)											0							SO:0001583	missense			ENST00000404795.3	0	1	hg19	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504364	0.96371	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	D;D	0.84298	-1.83;-1.83	3.8	3.8	0.43715	DMRTA motif (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	M	0.89904	3.07	0.54753	D	0.999983	D	0.60575	0.988	P	0.57548	0.823	D	0.93896	0.7184	10	0.87932	D	0	-10.9529	14.946	0.71032	0.0:1.0:0.0:0.0	.	348	Q96SC8	DMTA2_HUMAN	K	348	ENSP00000383909:E348K;ENSP00000399370:E348K	ENSP00000383909:E348K	E	-	1	0	DMRTA2	50657511	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.004000	0.57068	2.107000	0.64212	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	1	0	0	18	98	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999875e-01	17	97	0	11	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.710000	1.000000	0.990000	0.914271	0.930000	1	8.300000e-01	9.900000e-01
DMRTA2	63950	broad.mit.edu	37	1	50885223	50885223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885223G>T	ENST00000404795.3	-	3	1135	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2			6					GGGCGAACCAGAAAAGGACTC	0.721000													Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)											0							SO:0001583	missense			ENST00000404795.3	0	1	hg19	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787807	0.31593	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.76	2.84	0.33178	.	0.678240	0.13285	N	0.399480	T	0.19287	0.0463	N	0.22421	0.69	0.30662	N	0.75429	P	0.46020	0.871	B	0.37304	0.246	T	0.09618	-1.0666	10	0.45353	T	0.12	-9.2124	4.3626	0.11210	0.3172:0.0:0.6828:0.0	.	248	Q96SC8	DMTA2_HUMAN	Y	248	ENSP00000383909:S248Y;ENSP00000399370:S248Y	ENSP00000383909:S248Y	S	-	2	0	DMRTA2	50657810	0.999000	0.42202	0.995000	0.50966	0.353000	0.29299	4.988000	0.63863	2.078000	0.62432	0.462000	0.41574	TCT		TCGA-IB-7651-01A-11D-2154-08	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	1	0	0	13	82	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.996372e-01	13	81	0	14	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.620000	1.000000	0.990000	0.878422	0.890000	1	7.700000e-01	9.800000e-01
DMRTA2	63950	broad.mit.edu	37	1	50885340	50885340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885340G>A	ENST00000404795.3	-	3	1018	c.626C>T	c.(625-627)cCg>cTg	p.P209L	DMRTA2_ENST00000418121.1_Missense_Mutation_p.P209L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2			6					CGGCGGCAGCGGGCTGCCCGG	0.687000													Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)											0							SO:0001583	missense			ENST00000404795.3	1	1	hg19	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904742	0.52333	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.33654	1.4;1.4	3.98	3.98	0.46160	.	0.845757	0.10504	N	0.667019	T	0.52581	0.1743	L	0.58810	1.83	0.53688	D	0.99997	D	0.71674	0.998	P	0.58520	0.84	T	0.47471	-0.9115	10	0.39692	T	0.17	-14.0179	15.3449	0.74327	0.0:0.0:1.0:0.0	.	209	Q96SC8	DMTA2_HUMAN	L	209	ENSP00000383909:P209L;ENSP00000399370:P209L	ENSP00000383909:P209L	P	-	2	0	DMRTA2	50657927	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.787000	0.62432	2.194000	0.70268	0.462000	0.41574	CCG		TCGA-IB-7651-01A-11D-2154-08	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	1	0	0	11	48	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.986222e-01	10	47	0	15	2								-19.964200	1	1	116202	1	20	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.630000	1.000000	0.990000	0.889600	0.910000	1	7.800000e-01	9.800000e-01
FAF1	11124	broad.mit.edu	37	1	50941256	50941256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50941256G>A	ENST00000396153.2	-	18	2200	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	FAF1_ENST00000371778.4_Silent_p.G583G|FAF1_ENST00000545823.1_Silent_p.G341G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1			24					CCAAGAACTCGCCACTGGGGG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000396153.2	1	1	hg19	CCDS554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	1	0	0	33	296	0	72	0	9.999990e-01	0	195	0	72	2		0	0	0	0	0	2	1	1	31	291	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.690000	1.000000	0.990000	0.897008	0.900000	1	8.000000e-01	9.800000e-01
FAF1	11124	broad.mit.edu	37	1	51005376	51005376	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51005376G>T	ENST00000396153.2	-	14	1744	c.1293C>A	c.(1291-1293)caC>caA	p.H431Q	FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q|FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	p.0?(1)		24					CACTGCCAAAGTGTCTATTGC	0.353000																								1	Whole gene deletion(1)						SO:0001583	missense			ENST00000396153.2	1	1	hg19	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332629	0.41297	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.9	-0.835	0.10775	UAS (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.47716	1.5	0.49582	D	0.999807	D;D	0.58970	0.984;0.984	P;P	0.51945	0.685;0.685	T	0.48703	-0.9012	9	0.11182	T	0.66	-33.0452	6.8217	0.23861	0.4533:0.0:0.4386:0.1081	.	189;431	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	Q	431;431;189;271;279	.	ENSP00000360843:H431Q	H	-	3	2	FAF1	50777964	1.000000	0.71417	0.982000	0.44146	0.218000	0.24690	0.848000	0.27710	-0.417000	0.07461	-0.345000	0.07892	CAC		TCGA-IB-7651-01A-11D-2154-08	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	1	0	1	7	108	0	29	1	9.974087e-01	18	165	0	29	2		0	0	0	0	0	2	1	9.811031e-01	7	107	0	28	2								-11.083090	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.620000	0.290000	0.950000	0.610000	0.633863	0.620000	0	4.300000e-01	8.300000e-01
RNF11	26994	broad.mit.edu	37	1	51736946	51736946	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51736946C>T	ENST00000242719.3	+	3	903	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	p.0?(2)		1					GCCCCTCCTGCATGGAGCCAG	0.468000																								2	Whole gene deletion(2)						SO:0001819	synonymous_variant			ENST00000242719.3	1	1	hg19	CCDS556.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1	1	0	0	49	295	0	69	1	1	52	336	0	69	2		0	0	0	0	0	2	1	1	47	292	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.960077	0.960000	1	9.100000e-01	1
EPS15	2060	broad.mit.edu	37	1	51913785	51913785	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51913785G>A	ENST00000371733.3	-	9	680	c.584C>T	c.(583-585)gCa>gTa	p.A195V	EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	p.0?(1)		35					TTTCTCCAGTGCACAGTATAC	0.428000			T	MLL	ALL										Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)						SO:0001583	missense			ENST00000371733.3	1	1	hg19	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574835	0.96553	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.26518	1.73;1.73	5.75	5.75	0.90469	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.32204	N	0.006426	T	0.50582	0.1624	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.25082	-1.0142	10	0.33141	T	0.24	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	195;195	B1AUU8;P42566	.;EPS15_HUMAN	V	195	ENSP00000360795:A195V;ENSP00000360798:A195V	ENSP00000360795:A195V	A	-	2	0	EPS15	51686373	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	1	0	1	47	352	0	105	1	9.999965e-01	6	135	0	105	2		0	0	0	0	0	2	1	1	45	347	0	105	2								-17.780470	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.942645	0.950000	1	8.800000e-01	9.900000e-01
EPS15	2060	broad.mit.edu	37	1	51937366	51937366	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51937366T>G	ENST00000371733.3	-	4	305	c.209A>C	c.(208-210)aAa>aCa	p.K70T	EPS15_ENST00000371730.2_Missense_Mutation_p.K70T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	p.0?(1)		35					ACTTACTTGTTTGTTCAGGAT	0.308000			T	MLL	ALL										Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)						SO:0001583	missense			ENST00000371733.3	0	1	hg19	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439416	0.83885	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.28666	1.6;1.6	4.91	4.91	0.64330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.34386	N	0.004013	T	0.63070	0.2480	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71965	-0.4433	10	0.66056	D	0.02	.	13.9443	0.64075	0.0:0.0:0.0:1.0	.	70;70	B1AUU8;P42566	.;EPS15_HUMAN	T	70	ENSP00000360795:K70T;ENSP00000360798:K70T	ENSP00000360792:K70T	K	-	2	0	EPS15	51709954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.807000	0.75201	2.187000	0.69744	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	0	0	0	7	400	0	113	0	6.398880e-01	1	118	0	113	2		0	0	0	0	0	2	1	9.804704e-01	7	398	0	112	2								-7.059380	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.190000	0.080000	0.350000	0.180000	0.205511	0.190000	0	1.200000e-01	2.700000e-01
OSBPL9	114883	broad.mit.edu	37	1	52231644	52231644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52231644G>A	ENST00000428468.1	+	12	931	c.929G>A	c.(928-930)cGc>cAc	p.R310H	OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R328H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9			18					TCCCCAAAGCGCTTAATAGAG	0.348000																								0							SO:0001583	missense			ENST00000428468.1	1	1	hg19	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465138	0.43839	0.0	1.16E-4	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.86	1.97	0.26223	.	0.100852	0.64402	N	0.000001	T	0.13457	0.0326	N	0.04880	-0.145	0.37295	D	0.908439	D;B;B;B;B	0.76494	0.999;0.007;0.0;0.01;0.01	P;B;B;B;B	0.62649	0.905;0.003;0.001;0.003;0.003	T	0.17868	-1.0355	10	0.44086	T	0.13	-14.4153	10.3018	0.43656	0.2153:0.0:0.7847:0.0	.	293;200;326;310;315	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	H	297;328;315;320;145;310;293;229;145;200;132;132	ENSP00000360779:R297H;ENSP00000360775:R328H;ENSP00000337265:R315H;ENSP00000412733:R320H;ENSP00000402646:R145H;ENSP00000407168:R310H;ENSP00000413263:R293H;ENSP00000433675:R229H;ENSP00000433083:R145H;ENSP00000354970:R200H;ENSP00000433279:R132H;ENSP00000431980:R132H	ENSP00000337265:R315H	R	+	2	0	OSBPL9	52004232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.545000	0.45769	0.338000	0.23692	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	1	0	0	25	269	0	46	1	9.999988e-01	28	217	0	46	2		0	0	0	0	0	2	1	9.999999e-01	25	266	0	46	2								-3.221883	1	1	121412	15	42	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.830000	0.580000	0.990000	0.890000	0.831073	0.830000	0	7.100000e-01	9.500000e-01
OSBPL9	114883	broad.mit.edu	37	1	52237761	52237761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52237761G>A	ENST00000428468.1	+	13	960	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000371710.3_Missense_Mutation_p.V338I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9			18					ATCTGCCTCAGTCCTGACACA	0.393000																								0							SO:0001583	missense			ENST00000428468.1	1	1	hg19	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169656	0.38315	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.04	5.04	0.67666	.	0.199297	0.43416	D	0.000570	T	0.15478	0.0373	L	0.40543	1.245	0.32136	N	0.586092	B;B;B;B;B	0.11235	0.0;0.004;0.003;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.006;0.004;0.002;0.002	T	0.03875	-1.0996	10	0.35671	T	0.21	-9.6826	12.9341	0.58303	0.0771:0.0:0.9228:0.0	.	303;210;336;320;325	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	I	307;338;325;330;155;320;303;239;155;210;142;142	ENSP00000360779:V307I;ENSP00000360775:V338I;ENSP00000337265:V325I;ENSP00000412733:V330I;ENSP00000402646:V155I;ENSP00000407168:V320I;ENSP00000413263:V303I;ENSP00000433675:V239I;ENSP00000433083:V155I;ENSP00000354970:V210I;ENSP00000433279:V142I;ENSP00000431980:V142I	ENSP00000337265:V325I	V	+	1	0	OSBPL9	52010349	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	4.065000	0.57513	2.621000	0.88768	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	1	0	1	41	141	0	38	1	1	71	246	0	38	2		0	0	0	0	0	2	1	1	39	137	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.969773	0.970000	1	9.300000e-01	1
NRD1	4898	broad.mit.edu	37	1	52289401	52289401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52289401C>A	ENST00000354831.7	-	9	1487	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	NRD1_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000352171.7_Missense_Mutation_p.R365I|NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)			27					TTCTCTCAATCTAGCATGTGT	0.323000																								0							SO:0001583	missense			ENST00000354831.7	1	1	hg19	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891953	0.72524	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.38	5.38	0.77491	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.48986	1.54	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.71184	0.933;0.96;0.972	T	0.45338	-0.9268	10	0.48119	T	0.1	-10.9322	19.1375	0.93433	0.0:1.0:0.0:0.0	.	365;364;433	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	I	365;433;301;365;233	ENSP00000262679:R365I;ENSP00000346890:R433I;ENSP00000444416:R301I;ENSP00000442262:R233I	ENSP00000262679:R365I	R	-	2	0	NRD1	52061989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.671000	0.68095	2.532000	0.85374	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	1	0	1	20	256	0	82	1	9.998386e-01	32	152	0	82	2		0	0	0	0	0	2	1	9.999956e-01	20	253	0	82	2								-6.677630	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.740000	0.480000	0.970000	0.760000	0.751302	0.740000	0	6.000000e-01	8.900000e-01
NRD1	4898	broad.mit.edu	37	1	52299774	52299774	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52299774C>A	ENST00000354831.7	-	6	1174	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	MIR761_ENST00000390787.1_RNA|NRD1_ENST00000544028.1_Missense_Mutation_p.G129C|NRD1_ENST00000352171.7_Missense_Mutation_p.G261C|NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)			27					TTATCACTACCCCCATGCTTC	0.403000																								0							SO:0001583	missense			ENST00000354831.7	1	1	hg19	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109090	0.94292	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.97	5.97	0.96955	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81129	-0.1073	10	0.87932	D	0	-14.0013	20.4238	0.99064	0.0:1.0:0.0:0.0	.	261;260;329	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	C	261;329;197;261;129	ENSP00000262679:G261C;ENSP00000346890:G329C;ENSP00000444416:G197C;ENSP00000442262:G129C	ENSP00000262679:G261C	G	-	1	0	NRD1	52072362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.416000	0.80143	2.834000	0.97654	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	1	0	1	90	441	0	167	1	1	52	133	0	167	2		0	0	0	0	0	2	1	1	90	429	0	167	2								-3.336677	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983122	0.980000	1	9.600000e-01	1
NRD1	4898	broad.mit.edu	37	1	52302111	52302111	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52302111C>A	ENST00000354831.7	-	4	954		c.e4-1		MIR761_ENST00000390787.1_RNA|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Intron|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)			27					AGGTGCAGACCTAAGGAAAAA	0.463000																								0							SO:0001630	splice_region_variant			ENST00000354831.7	1	1	hg19	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082348	0.55861	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	.	.	.	6.08	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4518	0.50158	0.0:0.9176:0.0:0.0824	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52074699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.963000	0.29293	1.584000	0.49913	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	1	0	1	22	124	0	38	0	2.503174e-02	0	2	0	38	2		0	0	0	0	0	2	1	9.999991e-01	21	121	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.740000	1.000000	0.990000	0.925000	0.930000	1	8.500000e-01	9.900000e-01
KTI12	112970	broad.mit.edu	37	1	52499330	52499330	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52499330A>G	ENST00000371614.1	-	1	158	c.104T>C	c.(103-105)gTg>gCg	p.V35A	TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)			12					TGCGTCGTCCACCACGTACAC	0.687000																								0							SO:0001583	missense			ENST00000371614.1	1	1	hg19	CCDS562.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813943	0.50527	.	.	ENSG00000198841	ENST00000371614	T	0.35048	1.33	5.07	5.07	0.68467	.	0.083649	0.47093	U	0.000257	T	0.45013	0.1321	M	0.67517	2.055	0.24520	N	0.994164	P	0.49090	0.919	P	0.49226	0.603	T	0.43343	-0.9397	10	0.44086	T	0.13	.	12.3295	0.55031	1.0:0.0:0.0:0.0	.	35	Q96EK9	KTI12_HUMAN	A	35	ENSP00000360676:V35A	ENSP00000360676:V35A	V	-	2	0	KTI12	52271918	1.000000	0.71417	0.423000	0.26634	0.039000	0.13416	4.761000	0.62243	2.127000	0.65507	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	1	0	0	14	169	0	36	1	4.287683e-01	5	13	0	36	2		0	0	0	0	0	2	1	9.997750e-01	14	167	0	36	2								-19.399010	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.760000	0.450000	0.980000	0.790000	0.756963	0.760000	0	6.000000e-01	9.100000e-01
ZFYVE9	9372	broad.mit.edu	37	1	52703719	52703719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703719G>T	ENST00000371591.1	+	3	761	c.630G>T	c.(628-630)gaG>gaT	p.E210D	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E210D|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9			53					TGAATTCAGAGAAACAAATGG	0.368000																								0							SO:0001583	missense			ENST00000371591.1	1	1	hg19	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604550	0.46423	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.12	3.0	0.34707	.	0.090443	0.45867	D	0.000335	T	0.46814	0.1412	N	0.24115	0.695	0.26594	N	0.973148	D;D;D	0.71674	0.996;0.994;0.998	D;D;D	0.76071	0.987;0.97;0.986	T	0.26326	-1.0106	10	0.29301	T	0.29	.	5.8444	0.18657	0.4275:0.0:0.5725:0.0	.	210;210;210	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	D	210	ENSP00000349737:E210D;ENSP00000355358:E210D;ENSP00000287727:E210D;ENSP00000360647:E210D	ENSP00000287727:E210D	E	+	3	2	ZFYVE9	52476307	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.675000	0.25232	0.558000	0.29135	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	1	0	1	91	363	0	85	1	9.984614e-01	5	36	0	85	2		0	0	0	0	0	2	1	1	91	361	0	85	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986157	0.980000	1	9.600000e-01	1
ZFYVE9	9372	broad.mit.edu	37	1	52703750	52703750	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703750A>C	ENST00000371591.1	+	3	792	c.661A>C	c.(661-663)Aca>Cca	p.T221P	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.T221P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9			53					TAGACCGAAAACAGAGGGGAG	0.373000																								0							SO:0001583	missense			ENST00000371591.1	1	1	hg19	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	0.335	-0.953594	0.02285	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.12	-9.75	0.00506	.	0.651366	0.13926	N	0.353228	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.05257	-1.0896	10	0.33940	T	0.23	.	1.5073	0.02489	0.2786:0.1846:0.3538:0.183	.	221;221;221	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	P	221	ENSP00000349737:T221P;ENSP00000355358:T221P;ENSP00000287727:T221P;ENSP00000360647:T221P	ENSP00000287727:T221P	T	+	1	0	ZFYVE9	52476338	0.000000	0.05858	0.042000	0.18584	0.020000	0.10135	-1.926000	0.01562	-1.906000	0.01089	-1.410000	0.01125	ACA		TCGA-IB-7651-01A-11D-2154-08	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	1	0	1	59	487	0	108	0	9.468865e-01	1	41	0	108	2		0	0	0	0	0	2	1	1	59	482	0	108	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.800000	1.000000	0.990000	0.941229	0.940000	1	8.800000e-01	9.900000e-01
CC2D1B	200014	broad.mit.edu	37	1	52824024	52824024	+	Silent	SNP	C	C	T	rs140467530	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824024C>T	ENST00000371586.2	-	13	1578	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	p.P480P(1)		27					CTTTATCAGCCGGGGCTGAAT	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000371586.2	1	1	hg19	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035508	0.02029	0.0	4.65E-4	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	4.99	-6.02	0.02192	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	0.094	9.3705	0.38250	0.0:0.5751:0.2411:0.1838	.	.	.	.	Q	267;400	.	.	R	-	2	0	CC2D1B	52596612	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	-4.244000	0.00267	-1.015000	0.03375	-0.415000	0.06103	CGG		TCGA-IB-7651-01A-11D-2154-08	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	1	0	0	24	287	0	66	1	9.688893e-01	17	53	0	66	2		0	0	0	0	0	2	1	9.999996e-01	23	280	0	64	2								-11.859500	1	1	121412	40	47	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.790000	0.530000	0.980000	0.810000	0.788658	0.790000	0	6.500000e-01	9.200000e-01
CC2D1B	200014	broad.mit.edu	37	1	52824952	52824952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824952C>T	ENST00000371586.2	-	10	1234	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CC2D1B_ENST00000438831.1_De_novo_Start_InFrame|CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B			27					GGGGCCATCACTGGCTGCACT	0.652000																								0							SO:0001583	missense			ENST00000371586.2	1	1	hg19	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534462	0.45073	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.26518	1.73;1.73	4.3	3.38	0.38709	.	0.357869	0.22207	N	0.063158	T	0.24851	0.0603	L	0.55481	1.735	0.80722	D	1	B;B	0.32968	0.392;0.392	B;B	0.34779	0.157;0.189	T	0.04708	-1.0932	10	0.45353	T	0.12	-5.1845	9.661	0.39954	0.2081:0.7919:0.0:0.0	.	152;366	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	M	366;366;280	ENSP00000360642:V366M;ENSP00000284376:V366M	ENSP00000284376:V366M	V	-	1	0	CC2D1B	52597540	0.989000	0.36119	1.000000	0.80357	0.965000	0.64279	1.850000	0.39328	1.153000	0.42468	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	1	0	1	72	224	0	62	1	9.999996e-01	19	52	0	62	2		0	0	0	0	0	2	1	1	70	221	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.984477	0.980000	1	9.600000e-01	1
ZCCHC11	23318	broad.mit.edu	37	1	52896778	52896778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52896778G>A	ENST00000371544.3	-	28	4877	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11			58					ATTGCCACAGGTCTGGCAGCA	0.557000																								0							SO:0001583	missense			ENST00000371544.3	1	1	hg19	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618452|3.618452	0.66787|0.66787	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544|ENST00000528457	T;T|.	0.49432|.	0.78;0.79|.	5.38|5.38	4.47|4.47	0.54385|0.54385	.|.	0.376195|.	0.27513|.	N|.	0.019037|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|.	0.36027|.	0.533|.	B|.	0.30943|.	0.122|.	T|T	0.17776|0.17776	-1.0358|-1.0358	10|5	0.19147|.	T|.	0.46|.	.|.	10.2182|10.2182	0.43182|0.43182	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	1539|.	Q5TAX3|.	TUT4_HUMAN|.	S|I	1540;1539|41	ENSP00000257177:P1540S;ENSP00000360599:P1539S|.	ENSP00000257177:P1540S|.	P|T	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52669366|52669366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.062000|5.062000	0.64326|0.64326	1.275000|1.275000	0.44379|0.44379	0.563000|0.563000	0.77884|0.77884	CCT|ACC		TCGA-IB-7651-01A-11D-2154-08	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	1	63	255	0	75	1	9.998639e-01	16	40	0	75	2		0	0	0	0	0	2	1	1	61	250	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978817	0.980000	1	9.500000e-01	1
ZCCHC11	23318	broad.mit.edu	37	1	52941046	52941046	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52941046T>C	ENST00000371544.3	-	13	2447	c.2185A>G	c.(2185-2187)Aaa>Gaa	p.K729E	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11			58					TTGCTTATTTTCCCCTTCTCT	0.408000																								0							SO:0001583	missense			ENST00000371544.3	1	1	hg19	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525816	0.44969	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.52295	0.67;0.68;0.7;0.74	5.49	5.49	0.81192	.	0.209202	0.49305	D	0.000159	T	0.28234	0.0697	L	0.32530	0.975	0.80722	D	1	B;P	0.44429	0.209;0.835	B;B	0.35278	0.051;0.199	T	0.18967	-1.0320	10	0.06365	T	0.9	.	10.0083	0.41970	0.0:0.0758:0.0:0.9242	.	488;729	E9PKX1;Q5TAX3	.;TUT4_HUMAN	E	729;729;658;488	ENSP00000257177:K729E;ENSP00000360599:K729E;ENSP00000433486:K658E;ENSP00000435256:K488E	ENSP00000257177:K729E	K	-	1	0	ZCCHC11	52713634	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	2.911000	0.48774	2.077000	0.62373	0.455000	0.32223	AAA		TCGA-IB-7651-01A-11D-2154-08	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	1	171	604	0	164	1	9.997610e-01	9	36	0	164	2		0	0	0	0	0	2	1	1	167	593	0	163	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994229	0.990000	1	9.800000e-01	1
ZCCHC11	23318	broad.mit.edu	37	1	52991459	52991459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52991459C>T	ENST00000371544.3	-	2	756	c.494G>A	c.(493-495)aGt>aAt	p.S165N	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11			58					CAACAGTAAACTGGGTCCCTT	0.383000																								0							SO:0001583	missense			ENST00000371544.3	1	1	hg19	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	7.437	0.639883	0.14386	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	T;T;T	0.51574	0.7;0.81;0.8	4.58	2.61	0.31194	.	1.264840	0.05126	N	0.491576	T	0.37293	0.0998	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.12013	0.001;0.001;0.005;0.0	B;B;B;B	0.09377	0.001;0.004;0.004;0.002	T	0.22277	-1.0221	10	0.31617	T	0.26	.	6.7983	0.23736	0.0:0.7609:0.0:0.2391	.	165;165;165;165	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	N	165	ENSP00000257177:S165N;ENSP00000360599:S165N;ENSP00000433486:S165N	ENSP00000257177:S165N	S	-	2	0	ZCCHC11	52764047	0.009000	0.17119	0.289000	0.24876	0.924000	0.55760	-0.119000	0.10676	0.572000	0.29383	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	1	116	939	0	158	1	9.830844e-01	9	44	0	158	2		0	0	0	0	0	2	1	1	113	917	0	157	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.967604	0.970000	1	9.300000e-01	1
FAM159A	348378	broad.mit.edu	37	1	53108559	53108559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53108559C>T	ENST00000517870.1	+	2	357	c.207C>T	c.(205-207)tcC>tcT	p.S69S	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A			10					TAGGCCTGTCCGTAGCAGCAG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000517870.1	1	1	hg19	CCDS41336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	1	0	1	254	953	0	265	0	1.149317e-01	0	3	0	265	2		0	0	0	0	0	2	1	1	247	927	0	263	2								-3.595024	1	1	121018	3	41	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.970000	1.000000	1.000000	0.996407	0.990000	1	9.800000e-01	1
FAM159A	348378	broad.mit.edu	37	1	53122577	53122577	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53122577C>T	ENST00000517870.1	+	3	588	c.438C>T	c.(436-438)agC>agT	p.S146S	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A			10					AGCTGGAGAGCAATGAGGGGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000517870.1	1	1	hg19	CCDS41336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	1	0	0	140	488	0	144	0	5.020662e-02	0	2	0	144	2		0	0	0	0	0	2	1	1	139	484	0	142	2								-20.000000	1	1	120970	1	33	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992596	0.990000	1	9.700000e-01	1
ZYG11B	79699	broad.mit.edu	37	1	53237304	53237304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53237304C>T	ENST00000294353.6	+	3	954	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator			30					AACCTTGTTTCTCTGGATGTT	0.393000																								0							SO:0001583	missense			ENST00000294353.6	1	1	hg19	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431254	0.83776	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.02197	4.4;4.4;4.4	5.26	5.26	0.73747	Armadillo-type fold (1);	0.099216	0.64402	D	0.000001	T	0.09686	0.0238	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.98;0.992	T	0.44003	-0.9356	10	0.07813	T	0.8	.	19.1243	0.93376	0.0:1.0:0.0:0.0	.	270;270	B4DK95;Q9C0D3	.;ZY11B_HUMAN	F	270	ENSP00000400522:S270F;ENSP00000441315:S270F;ENSP00000294353:S270F	ENSP00000294353:S270F	S	+	2	0	ZYG11B	53009892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.532000	0.81985	2.741000	0.93983	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	1	0	1	69	241	0	79	1	9.999399e-01	13	40	0	79	2		0	0	0	0	0	2	1	1	67	238	0	79	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982619	0.980000	1	9.500000e-01	1
ZYG11B	79699	broad.mit.edu	37	1	53262444	53262444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53262444C>T	ENST00000294353.6	+	8	1618	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	ZYG11B_ENST00000545132.1_Silent_p.L491L|ZYG11B_ENST00000443756.2_Silent_p.L491L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator			30					GTACTGAGCTCTTCATTGTCA	0.338000																								0							SO:0001819	synonymous_variant			ENST00000294353.6	1	1	hg19	CCDS30717.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	1	0	1	64	211	0	71	1	9.991465e-01	8	30	0	71	2		0	0	0	0	0	2	1	1	63	207	0	70	2								-4.303930	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981696	0.980000	1	9.500000e-01	1
ECHDC2	55268	broad.mit.edu	37	1	53370467	53370467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53370467G>A	ENST00000371522.4	-	7	646	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ECHDC2_ENST00000536120.1_Silent_p.L139L|ECHDC2_ENST00000358358.5_Silent_p.L154L	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2			12					TCCTTCGCCAGGGCCACCCCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000371522.4	1	1	hg19	CCDS55600.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	1	0	1	25	214	0	38	1	9.999817e-01	27	126	0	38	2		0	0	0	0	0	2	1	9.999998e-01	25	207	0	36	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.670000	1.000000	0.990000	0.888477	0.900000	1	7.900000e-01	9.800000e-01
SCP2	6342	broad.mit.edu	37	1	53443951	53443951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53443951G>A	ENST00000528311.1	+	8	790	c.494G>A	c.(493-495)gGc>gAc	p.G165D	SCP2_ENST00000371514.3_Missense_Mutation_p.G246D|SCP2_ENST00000371513.5_Missense_Mutation_p.G202D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.G202D	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2			15					CAGAAGTATGGCCTGCAATCC	0.408000																								0							SO:0001583	missense			ENST00000528311.1	1	1	hg19	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.627|5.627	0.300414|0.300414	0.10678|0.10678	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000529363|ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	.|D;T;D;D;D	.|0.95885	.|-3.84;-0.6;-3.84;-3.84;-3.84	5.17|5.17	-1.38|-1.38	0.09027|0.09027	.|Thiolase-like (1);	.|0.789478	.|0.12497	.|N	.|0.463694	D|D	0.94072|0.94072	0.8100|0.8100	M|M	0.79693|0.79693	2.465|2.465	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.31174	.|0.311;0.027;0.059;0.021	.|B;B;B;B	.|0.31442	.|0.13;0.009;0.033;0.02	D|D	0.87879|0.87879	0.2676|0.2676	5|10	.|0.52906	.|T	.|0.07	0.0831|0.0831	11.4404|11.4404	0.50094|0.50094	0.5016:0.0:0.4984:0.0|0.5016:0.0:0.4984:0.0	.|.	.|222;202;246;202	.|C9JC79;A6NM69;P22307;Q6NXF4	.|.;.;NLTP_HUMAN;.	T|D	192|246;165;202;222;202	.|ENSP00000360569:G246D;ENSP00000434132:G165D;ENSP00000360564:G202D;ENSP00000384569:G222D;ENSP00000360568:G202D	.|ENSP00000360564:G202D	A|G	+|+	1|2	0|0	SCP2|SCP2	53216539|53216539	0.007000|0.007000	0.16637|0.16637	0.004000|0.004000	0.12327|0.12327	0.059000|0.059000	0.15707|0.15707	0.695000|0.695000	0.25527|0.25527	-0.111000|-0.111000	0.12001|0.12001	-0.781000|-0.781000	0.03364|0.03364	GCC|GGC		TCGA-IB-7651-01A-11D-2154-08	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	1	0	1	20	202	0	37	1	9.998799e-01	28	125	0	37	2		0	0	0	0	0	2	1	9.999956e-01	19	200	0	37	2								-8.645386	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.570000	0.990000	0.930000	0.836298	0.840000	0	7.100000e-01	9.500000e-01
SLC1A7	6512	broad.mit.edu	37	1	53556405	53556405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53556405C>T	ENST00000371494.4	-	8	1232	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7			26					ACGGGCAGCACGAAGCGAGCG	0.617000													NSCLC(128;80 1811 21245 38490 51715)											0							SO:0001583	missense			ENST00000371494.4	0	1	hg19	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191525	0.78902	.	.	ENSG00000162383	ENST00000371494	T	0.66460	-0.21	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	H	0.95712	3.71	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	D	0.89565	0.3809	10	0.72032	D	0.01	-3.4286	13.9422	0.64062	0.0:0.9265:0.0:0.0735	.	369	O00341	EAA5_HUMAN	M	369	ENSP00000360549:V369M	ENSP00000360549:V369M	V	-	1	0	SLC1A7	53328993	1.000000	0.71417	0.937000	0.37676	0.715000	0.41141	6.089000	0.71384	1.263000	0.44181	0.313000	0.20887	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	0	0	0	5	139	0	25	0	2.540043e-02	1	5	0	25	2		0	0	0	0	0	2	1	9.351647e-01	5	136	0	24	2								-7.638592	1	1	121388	6	33	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.380000	0.140000	0.740000	0.350000	0.411257	0.380000	0	2.400000e-01	5.600000e-01
SLC1A7	6512	broad.mit.edu	37	1	53608004	53608004	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53608004G>A	ENST00000371494.4	-	1	245	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	SLC1A7_ENST00000371491.4_Missense_Mutation_p.R40W	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7			26					GAGAGGCGCCGGGTCCTCAAG	0.647000													NSCLC(128;80 1811 21245 38490 51715)											0							SO:0001583	missense			ENST00000371494.4	0	1	hg19	CCDS574.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296002	0.60086	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.58652	0.32;0.32	5.53	4.56	0.56223	.	0.349234	0.27730	N	0.018100	T	0.55386	0.1917	N	0.24115	0.695	0.37736	D	0.925439	D;B	0.57899	0.981;0.205	P;P	0.56788	0.806;0.67	T	0.58301	-0.7660	10	0.41790	T	0.15	-7.2551	11.5809	0.50891	0.0:0.0:0.6608:0.3392	.	40;40	Q9BW45;O00341	.;EAA5_HUMAN	W	40	ENSP00000360549:R40W;ENSP00000360546:R40W	ENSP00000360546:R40W	R	-	1	2	SLC1A7	53380592	0.893000	0.30496	1.000000	0.80357	0.629000	0.37895	2.726000	0.47302	2.602000	0.87976	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	1	0	0	6	23	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.672082e-01	5	23	0	7	2								-14.120180	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.860000	0.500000	1.000000	0.990000	0.838608	0.860000	1	6.900000e-01	9.700000e-01
CPT2	1376	broad.mit.edu	37	1	53676305	53676305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53676305C>T	ENST00000371486.3	+	4	1474	c.959C>T	c.(958-960)tCg>tTg	p.S320L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2			15				L-Carnitine(DB00583)|Perhexiline(DB01074)	AAAGTGGACTCGGCAGTGTTC	0.537000																								0							SO:0001583	missense			ENST00000371486.3	1	1	hg19	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894892	0.72639	.	.	ENSG00000157184	ENST00000371486	D	0.91295	-2.82	5.51	5.51	0.81932	.	0.206216	0.50627	D	0.000101	D	0.96842	0.8969	H	0.94964	3.605	0.45415	D	0.998399	D	0.89917	1.0	D	0.74023	0.982	D	0.97558	1.0096	10	0.72032	D	0.01	-27.5427	19.4394	0.94811	0.0:1.0:0.0:0.0	.	320	P23786	CPT2_HUMAN	L	320	ENSP00000360541:S320L	ENSP00000360541:S320L	S	+	2	0	CPT2	53448893	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.438000	0.52871	2.581000	0.87130	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	1	0	1	43	334	0	82	1	9.901818e-01	12	46	0	82	2		0	0	0	0	0	2	1	1	43	330	0	81	2								-2.966613	1	1	121412	1	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.934390	0.940000	1	8.700000e-01	9.900000e-01
LRP8	7804	broad.mit.edu	37	1	53716509	53716509	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53716509A>G	ENST00000306052.6	-	17	2630	c.2529T>C	c.(2527-2529)agT>agC	p.S843S	LRP8_ENST00000347547.2_Silent_p.S673S|LRP8_ENST00000371454.2_Silent_p.S843S|LRP8_ENST00000465675.1_Silent_p.S396S|LRP8_ENST00000354412.3_Silent_p.S639S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor			21					TCAGGTATCCACTCATGCACA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000306052.6	1	1	hg19	CCDS578.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	1	0	0	39	358	0	94	1	8.949669e-01	8	30	0	94	2		0	0	0	0	0	2	1	1	38	344	0	93	2								-13.631560	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.710000	1.000000	0.990000	0.901652	0.910000	1	8.100000e-01	9.800000e-01
LRP8	7804	broad.mit.edu	37	1	53746293	53746293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53746293G>A	ENST00000306052.6	-	4	563	c.462C>T	c.(460-462)tgC>tgT	p.C154C	LRP8_ENST00000347547.2_Silent_p.C154C|LRP8_ENST00000371454.2_Silent_p.C154C|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000354412.3_Silent_p.C154C	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor			21					CTCCACCCTCGCAGTCCTTCT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000306052.6	1	1	hg19	CCDS578.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	1	0	1	50	213	0	64	1	6.497847e-01	3	8	0	64	2		0	0	0	0	0	2	1	1	48	209	0	62	2								-20.000000	1	1	121412	1	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.971905	0.970000	1	9.400000e-01	1
GLIS1	148979	broad.mit.edu	37	1	53975654	53975654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53975654G>A	ENST00000312233.2	-	8	1971	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1			24					GGTGGCCCCAGCCCCTTCAGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000312233.2	1	1	hg19	CCDS582.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	1	0	0	10	41	0	12	0	0	0	1	0	12	2		0	0	0	0	0	2	1	9.976117e-01	10	40	0	12	2								-19.645570	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.620000	1.000000	0.990000	0.884523	0.900000	1	7.800000e-01	9.800000e-01
YIPF1	54432	broad.mit.edu	37	1	54344385	54344385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54344385C>T	ENST00000072644.1	-	5	542	c.206G>A	c.(205-207)gGa>gAa	p.G69E	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E|YIPF1_ENST00000371399.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1			19					TTTCTTCTGTCCAGCAAGTAA	0.393000																								0							SO:0001583	missense			ENST00000072644.1	1	1	hg19	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993707	0.54041	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	P	0.59643	0.861	T	0.52609	-0.8553	9	0.11794	T	0.64	-0.3282	17.341	0.87296	0.0:1.0:0.0:0.0	.	69	Q9Y548	YIPF1_HUMAN	E	69;94;69	.	ENSP00000072644:G69E	G	-	2	0	YIPF1	54116973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.317000	0.59184	2.478000	0.83669	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	1	0	1	25	244	0	50	1	9.999876e-01	29	151	0	50	2		0	0	0	0	0	2	1	9.999998e-01	25	239	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.870000	0.620000	1.000000	0.970000	0.860188	0.870000	1	7.500000e-01	9.600000e-01
HSPB11	51668	broad.mit.edu	37	1	54387388	54387388	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54387388T>G	ENST00000194214.5	-	6	760	c.371A>C	c.(370-372)gAt>gCt	p.D124A	HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11			9					TGCAAAATGATCAAAGGCTGA	0.348000																								0							SO:0001583	missense			ENST00000194214.5	1	1	hg19	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406711	0.62399	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81163	-1.46;-1.46	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.64567	1.98	0.80722	D	1	P	0.50156	0.932	P	0.51701	0.677	T	0.81915	-0.0714	10	0.35671	T	0.21	-25.3596	11.9234	0.52806	0.0:0.0:0.0:1.0	.	124	Q9Y547	HSB11_HUMAN	A	124	ENSP00000194214:D124A;ENSP00000360429:D124A	ENSP00000194214:D124A	D	-	2	0	HSPB11	54159976	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.426000	0.59882	2.089000	0.63090	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	1	0	1	36	336	0	81	1	9.998745e-01	16	112	0	81	2		0	0	0	0	0	2	1	1	35	333	0	80	2								-12.248610	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.690000	1.000000	0.990000	0.893386	0.900000	1	8.000000e-01	9.800000e-01
LRRC42	115353	broad.mit.edu	37	1	54418090	54418090	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54418090A>C	ENST00000371370.3	+	3	939	c.418A>C	c.(418-420)Aaa>Caa	p.K140Q	LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42			9					GGCTTTACAGAAATTCACTGA	0.463000																								0							SO:0001583	missense			ENST00000371370.3	1	1	hg19	CCDS585.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190926	0.58017	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.52	5.52	0.82312	.	0.113302	0.64402	D	0.000017	T	0.61502	0.2352	N	0.24115	0.695	0.38195	D	0.940032	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.74674	0.943;0.984;0.879	T	0.59343	-0.7472	9	0.15952	T	0.53	-17.9803	15.9419	0.79763	1.0:0.0:0.0:0.0	.	140;140;140	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	Q	140	.	ENSP00000318185:K140Q	K	+	1	0	LRRC42	54190678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.195000	0.51013	2.235000	0.73313	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	1	0	1	25	238	0	73	1	9.999923e-01	33	151	0	73	2		0	0	0	0	0	2	1	9.999998e-01	25	232	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.870000	0.630000	1.000000	0.990000	0.866418	0.870000	1	7.500000e-01	9.700000e-01
LRRC42	115353	broad.mit.edu	37	1	54426034	54426034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54426034C>T	ENST00000371370.3	+	5	1132	c.611C>T	c.(610-612)aCt>aTt	p.T204I	LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42			9					CCTAGTGTAACTCAGCTCCAC	0.358000																								0							SO:0001583	missense			ENST00000371370.3	1	1	hg19	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560599	0.45590	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.31769	5.4;5.4;1.48	5.85	5.85	0.93711	.	0.172887	0.50627	D	0.000106	T	0.18467	0.0443	N	0.19112	0.55	0.35667	D	0.813013	P;P	0.42296	0.775;0.666	B;B	0.35655	0.207;0.102	T	0.15752	-1.0426	10	0.59425	D	0.04	-17.1487	10.0635	0.42288	0.1474:0.7809:0.0:0.0717	.	204;204	E7EP35;Q9Y546	.;LRC42_HUMAN	I	204	ENSP00000360421:T204I;ENSP00000318185:T204I;ENSP00000389368:T204I	ENSP00000318185:T204I	T	+	2	0	LRRC42	54198622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.393000	0.44442	2.941000	0.99782	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	1	0	0	17	393	0	88	1	9.915551e-01	19	162	0	88	2		0	0	0	0	0	2	1	9.999650e-01	16	392	0	88	2								-17.306620	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.440000	0.260000	0.670000	0.440000	0.459115	0.440000	0	3.400000e-01	5.600000e-01
LRRC42	115353	broad.mit.edu	37	1	54433606	54433606	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54433606C>A	ENST00000371370.3	+	9	1802	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	LRRC42_ENST00000319223.4_Silent_p.S427S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42			9					TGTTAAATTCCTATTGATTAG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000371370.3	1	1	hg19	CCDS585.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	1	0	1	33	290	0	63	1	9.999957e-01	33	136	0	63	2		0	0	0	0	0	2	1	1	33	287	0	62	2								-2.540643	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.700000	1.000000	0.990000	0.901042	0.910000	1	8.100000e-01	9.800000e-01
LDLRAD1	388633	broad.mit.edu	37	1	54474776	54474776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54474776C>T	ENST00000371360.1	-	6	514	c.497G>A	c.(496-498)gGg>gAg	p.G166E	LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1			7					GCGCCACCACCCAGGGCCGCA	0.597000																								0							SO:0001583	missense			ENST00000371360.1	1	1	hg19	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239336	0.39598	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.5	3.5	0.40072	.	0.116551	0.38897	N	0.001529	T	0.81983	0.4938	M	0.63428	1.95	0.36118	D	0.845287	B;B	0.12013	0.0;0.005	B;B	0.11329	0.002;0.006	T	0.71087	-0.4694	10	0.08381	T	0.77	-21.6953	4.3843	0.11309	0.0:0.7093:0.0:0.2907	.	123;166	B7ZME3;Q5T700	.;LRAD1_HUMAN	E	77;166;123;127	ENSP00000360413:G77E;ENSP00000360411:G166E;ENSP00000445871:G123E;ENSP00000411017:G127E	ENSP00000360411:G166E	G	-	2	0	LDLRAD1	54247364	0.019000	0.18553	0.980000	0.43619	0.607000	0.37147	0.674000	0.25218	2.348000	0.79779	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	1	0	0	63	640	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1	63	624	0	130	2								-3.221883	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.720000	1.000000	0.950000	0.897243	0.900000	1	8.100000e-01	9.700000e-01
TMEM59	9528	broad.mit.edu	37	1	54518711	54518711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54518711C>T	ENST00000234831.5	-	1	400	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	TCEANC2_ENST00000234827.1_5'Flank|TCEANC2_ENST00000371331.1_5'Flank|MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59			7					AACTGACAGGCCCGGTGGCAA	0.647000																								0							SO:0001583	missense			ENST00000234831.5	1	1	hg19	CCDS586.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074046	0.36566	.	.	ENSG00000116209	ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337	T;T;T	0.44881	0.94;0.95;0.91	5.12	5.12	0.69794	.	0.234093	0.44285	D	0.000470	T	0.23370	0.0565	N	0.16368	0.405	0.40796	D	0.98329	B;B;B;B	0.22276	0.067;0.067;0.01;0.01	B;B;B;B	0.17098	0.017;0.008;0.003;0.002	T	0.07751	-1.0756	10	0.05351	T	0.99	-16.0678	13.0808	0.59114	0.0:0.9235:0.0:0.0765	.	51;51;51;51	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	T	51	ENSP00000234831:A51T;ENSP00000397772:A51T;ENSP00000360388:A51T	ENSP00000234831:A51T	A	-	1	0	TMEM59	54291299	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.736000	0.38187	2.653000	0.90120	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	1	0	1	76	325	0	71	1	1	383	908	0	71	2		0	0	0	0	0	2	1	1	73	319	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982032	0.980000	1	9.500000e-01	1
CDCP2	200008	broad.mit.edu	37	1	54606931	54606931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54606931G>A	ENST00000371330.1	-	3	1450	c.603C>T	c.(601-603)gaC>gaT	p.D201D	CDCP2_ENST00000530059.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2			24					CAGCCACGTAGTCATAGGTGC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000371330.1	1	1	hg19	CCDS588.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	1	0	1	49	209	0	46	0	0	1	0	0	46	2		0	0	0	0	0	2	1	1	47	206	0	45	2								-20.000000	1	1	121412	1	27	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.971287	0.970000	1	9.300000e-01	1
CYB5RL	606495	broad.mit.edu	37	1	54640324	54640324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54640324C>T	ENST00000534324.1	-	6	915	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000419823.2_Missense_Mutation_p.G306S|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|AL357673.1_ENST00000536061.1_5'Flank|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|RP11-446E24.4_ENST00000525949.1_5'Flank			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like			8					TCAGTGAGGCCTGCGCACAGT	0.557000																								0							SO:0001583	missense			ENST00000534324.1	0	1	hg19	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936381	0.92458	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.96619	-2.78;-4.07;-2.78;-2.96;-2.78;-2.96	5.14	5.14	0.70334	.	0.000000	0.39544	U	0.001321	D	0.96210	0.8764	N	0.24115	0.695	0.49915	D	0.999838	D;D	0.89917	0.999;1.0	D;D	0.74674	0.921;0.984	D	0.96630	0.9466	10	0.54805	T	0.06	-19.7195	16.9666	0.86287	0.0:1.0:0.0:0.0	.	306;158	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	S	306;158;306;238;306;238	ENSP00000409075:G306S;ENSP00000383825:G158S;ENSP00000434343:G306S;ENSP00000287899:G238S;ENSP00000438151:G306S;ENSP00000443797:G238S	ENSP00000287899:G238S	G	-	1	0	CYB5RL	54412912	0.999000	0.42202	0.960000	0.40013	0.863000	0.49368	5.162000	0.64942	2.672000	0.90937	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	1	0	0	5	77	0	19	0	1.633200e-01	1	9	0	19	2		0	0	0	0	0	2	1	9.354753e-01	5	75	0	19	2								-9.519664	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.610000	0.250000	0.960000	0.600000	0.620193	0.610000	0	4.000000e-01	8.300000e-01
MRPL37	51253	broad.mit.edu	37	1	54670848	54670848	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54670848G>A	ENST00000360840.5	+	2	581	c.504G>A	c.(502-504)gaG>gaA	p.E168E	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000605337.1_Silent_p.E168E	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37			19					AGACCACTGAGGAAATCCCCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000360840.5	1	1	hg19	CCDS589.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	1	0	1	71	268	0	93	1	1	167	190	0	93	2		0	0	0	0	0	2	1	1	70	263	0	92	2								-3.344937	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982321	0.980000	1	9.500000e-01	1
FAM151A	338094	broad.mit.edu	37	1	55075382	55075382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55075382C>T	ENST00000302250.2	-	8	1477	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A			12					CCCACACAGGCCAATGCAAGA	0.637000																								0							SO:0001587	stop_gained			ENST00000302250.2	0	1	hg19	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643285	0.67244	.	.	ENSG00000162391	ENST00000302250	.	.	.	4.17	0.174	0.15040	.	0.890365	0.09587	N	0.782015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.8283	0.8298	0.01128	0.166:0.3896:0.1617:0.2827	.	.	.	.	X	439	.	ENSP00000306888:W439X	W	-	3	0	FAM151A	54847970	0.018000	0.18449	0.195000	0.23364	0.279000	0.26890	-0.118000	0.10692	0.040000	0.15660	-0.137000	0.14449	TGG		TCGA-IB-7651-01A-11D-2154-08	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	1	0	0	50	216	0	53	1	8.537494e-01	6	11	0	53	2		0	0	0	0	0	2	1	1	49	214	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.971614	0.970000	1	9.300000e-01	1
FAM151A	338094	broad.mit.edu	37	1	55080452	55080452	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55080452C>T	ENST00000302250.2	-	4	656	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A			12					GGCCGCCGGACTTTGCCTTCC	0.557000																								0							SO:0001583	missense			ENST00000302250.2	1	1	hg19	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.257499	0.01457	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.11063	2.81;2.81	3.6	0.589	0.17452	.	0.233360	0.31246	N	0.007982	T	0.03477	0.0100	N	0.05078	-0.115	0.09310	N	1	B	0.17038	0.02	B	0.20955	0.032	T	0.44982	-0.9292	10	0.06236	T	0.91	-17.4804	5.7578	0.18182	0.0:0.3913:0.0:0.6087	.	166	Q8WW52	F151A_HUMAN	I	166	ENSP00000306888:V166I;ENSP00000360353:V166I	ENSP00000294370:V166I	V	-	1	0	FAM151A	54853040	0.100000	0.21855	0.040000	0.18447	0.064000	0.16182	0.299000	0.19138	0.294000	0.22547	0.462000	0.41574	GTC		TCGA-IB-7651-01A-11D-2154-08	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	1	0	1	62	181	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	61	175	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982151	0.980000	1	9.500000e-01	1
TTC4	7268	broad.mit.edu	37	1	55194081	55194081	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55194081T>C	ENST00000371281.3	+	6	744	c.657T>C	c.(655-657)aaT>aaC	p.N219N	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4			9					GGAATCAGAATGAGGCTTTAC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000371281.3	1	1	hg19	CCDS596.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	1	0	0	18	115	0	32	1	9.999809e-01	27	99	0	32	2		0	0	0	0	0	2	1	9.999867e-01	18	113	0	32	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.680000	1.000000	0.990000	0.902328	0.910000	1	8.100000e-01	9.800000e-01
PARS2	25973	broad.mit.edu	37	1	55224511	55224511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55224511C>A	ENST00000371279.3	-	2	406	c.324G>T	c.(322-324)gaG>gaT	p.E108D		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)			15				L-Proline(DB00172)	TGGCCTGCATCTCCTGGTCTA	0.617000																								0							SO:0001583	missense			ENST00000371279.3	1	1	hg19	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580642	0.65992	.	.	ENSG00000162396	ENST00000371279	T	0.80566	-1.39	4.99	4.99	0.66335	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.065947	0.64402	D	0.000010	D	0.91563	0.7335	H	0.96889	3.9	0.53688	D	0.999977	D	0.56035	0.974	D	0.63381	0.914	D	0.93020	0.6439	10	0.72032	D	0.01	-24.8229	9.9672	0.41732	0.0:0.7824:0.1404:0.0772	.	108	Q7L3T8	SYPM_HUMAN	D	108	ENSP00000360327:E108D	ENSP00000360327:E108D	E	-	3	2	PARS2	54997099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.534000	0.45676	2.310000	0.77875	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	1	0	1	113	375	0	112	1	9.119864e-01	7	9	0	112	2		0	0	0	0	0	2	1	1	110	368	0	112	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990611	0.980000	1	9.700000e-01	1
DHCR24	1718	broad.mit.edu	37	1	55319794	55319794	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55319794G>A	ENST00000371269.3	-	7	1232	c.1134C>T	c.(1132-1134)taC>taT	p.Y378Y	DHCR24_ENST00000535035.1_Silent_p.Y337Y|DHCR24_ENST00000537443.1_Silent_p.Y162Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase			7					GGTGCTGCTCGTACAGCTTGC	0.607000													Pancreas(39;516 1021 24601 30715 32780)											0							SO:0001819	synonymous_variant			ENST00000371269.3	1	1	hg19	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093682	0.20471	.	.	ENSG00000116133	ENST00000436604	.	.	.	5.06	-2.13	0.07144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.6313	13.0848	0.59133	0.6011:0.0:0.3989:0.0	.	.	.	.	X	16	.	.	R	-	1	2	DHCR24	55092382	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-1.693000	0.01917	-0.305000	0.08831	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	1	0	1	38	133	0	38	1	1	117	128	0	38	2		0	0	0	0	0	2	1	1	38	129	0	38	2								-3.889350	1	1	121412	2	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.967030	0.970000	1	9.300000e-01	1
PCSK9	255738	broad.mit.edu	37	1	55523714	55523714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55523714G>A	ENST00000302118.5	+	8	1476	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9			32					ACCAGGCATTGCAGCCATGAT	0.592000													Pancreas(137;1454 1827 5886 22361 42375)											0							SO:0001583	missense			ENST00000302118.5	1	1	hg19	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640571	0.47153	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.89617	-2.54;-2.54	4.39	2.46	0.29980	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.376195	0.24873	N	0.034901	D	0.89357	0.6692	M	0.83953	2.67	0.09310	N	1	P	0.45283	0.855	B	0.43331	0.416	T	0.82133	-0.0608	10	0.56958	D	0.05	-1.1614	11.0881	0.48099	0.0:0.1384:0.7179:0.1437	.	396	Q8NBP7	PCSK9_HUMAN	T	396;196	ENSP00000303208:A396T;ENSP00000441859:A196T	ENSP00000303208:A396T	A	+	1	0	PCSK9	55296302	0.511000	0.26179	0.003000	0.11579	0.118000	0.20060	3.058000	0.49939	0.380000	0.24823	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	1	0	0	41	451	0	83	1	4.843377e-01	8	11	0	83	2		0	0	0	0	0	2	1	1	40	438	0	82	2								-11.730420	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.850000	0.640000	0.990000	0.880000	0.847897	0.850000	1	7.400000e-01	9.500000e-01
USP24	23358	broad.mit.edu	37	1	55563334	55563334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55563334G>A	ENST00000294383.6	-	48	5651	c.5652C>T	c.(5650-5652)caC>caT	p.H1884H	USP24_ENST00000407756.1_Silent_p.H1724H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24			60					ATCTCATTAGGTGAATTACCA	0.338000																								0							SO:0001819	synonymous_variant			ENST00000294383.6	0	1	hg19	CCDS44154.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	0	0	1	4	37	0	13	1	9.542096e-01	10	48	0	13	2		0	0	0	0	0	2	1	8.749712e-01	4	34	0	12	2								-5.404435	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.730000	0.300000	0.990000	0.900000	0.714974	0.730000	0	5.000000e-01	9.200000e-01
USP24	23358	broad.mit.edu	37	1	55569592	55569592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55569592G>T	ENST00000294383.6	-	42	4981	c.4982C>A	c.(4981-4983)tCt>tAt	p.S1661Y	USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24			60					GTGATGCATAGAAAGCAGTTC	0.378000																								0							SO:0001583	missense			ENST00000294383.6	1	1	hg19	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410228	0.62399	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.67698	-0.28;-0.28	6.05	6.05	0.98169	.	0.111807	0.64402	D	0.000006	T	0.57140	0.2033	L	0.34521	1.04	0.51767	D	0.999936	P	0.37398	0.593	B	0.30943	0.122	T	0.61481	-0.7054	10	0.66056	D	0.02	.	18.7818	0.91937	0.0:0.0:1.0:0.0	.	1501	B7WPF4	.	Y	1661;1501	ENSP00000294383:S1661Y;ENSP00000385700:S1501Y	ENSP00000294383:S1661Y	S	-	2	0	USP24	55342180	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	7.502000	0.81614	2.878000	0.98634	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	1	0	1	13	66	0	21	1	9.970873e-01	20	35	0	21	2		0	0	0	0	0	2	1	9.996620e-01	12	66	0	21	2								-19.999220	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.650000	1.000000	0.990000	0.894781	0.910000	1	7.900000e-01	9.800000e-01
USP24	23358	broad.mit.edu	37	1	55589226	55589226	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55589226C>T	ENST00000294383.6	-	36	4169	c.4170G>A	c.(4168-4170)gcG>gcA	p.A1390A	USP24_ENST00000407756.1_Silent_p.A1230A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	p.A1390A(1)|p.A1307A(1)		60					CACAGATTCCCGCATGCAGGG	0.493000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000294383.6	1	1	hg19	CCDS44154.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	1	0	1	13	45	0	14	1	9.982463e-01	12	31	0	14	2		0	0	0	0	0	2	1	9.997431e-01	13	45	0	14	2								-19.999990	1	1	120798	10	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.690000	1.000000	0.990000	0.911971	0.920000	1	8.300000e-01	9.900000e-01
USP24	23358	broad.mit.edu	37	1	55620367	55620367	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55620367G>T	ENST00000294383.6	-	13	1530	c.1531C>A	c.(1531-1533)Cat>Aat	p.H511N	USP24_ENST00000407756.1_Missense_Mutation_p.H399N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24			60					ACAAACAAATGATTAAGCTGA	0.363000																								0							SO:0001583	missense			ENST00000294383.6	1	1	hg19	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589352	0.86851	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.78364	-1.17;-1.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.68593	2.085	0.52099	D	0.999946	P	0.45126	0.851	P	0.58391	0.838	D	0.85825	0.1388	10	0.54805	T	0.06	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	399	B7WPF4	.	N	511;399	ENSP00000294383:H511N;ENSP00000385700:H399N	ENSP00000294383:H511N	H	-	1	0	USP24	55392955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.423000	0.97461	2.708000	0.92522	0.650000	0.86243	CAT		TCGA-IB-7651-01A-11D-2154-08	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2	1	0	0	10	117	0	49	1	6.900930e-01	3	26	0	49	2		0	0	0	0	0	2	1	9.968986e-01	10	114	0	49	2								-6.082040	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.750000	0.410000	0.980000	0.790000	0.745318	0.750000	0	5.700000e-01	9.100000e-01
PPAP2B	8613	broad.mit.edu	37	1	56977739	56977739	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56977739T>C	ENST00000371250.3	-	5	1270	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B			17					CAGTCCCGTGTAGAAGGCCAT	0.582000																								0							SO:0001583	missense			ENST00000371250.3	1	1	hg19	CCDS604.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692869	0.88735	.	.	ENSG00000162407	ENST00000371250	T	0.74209	-0.82	6.04	6.04	0.98038	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.169906	0.52532	D	0.000069	D	0.86859	0.6034	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88431	0.3035	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	240	O14495	LPP3_HUMAN	C	240	ENSP00000360296:Y240C	ENSP00000360296:Y240C	Y	-	2	0	PPAP2B	56750327	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	TAC		TCGA-IB-7651-01A-11D-2154-08	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	1	0	0	29	252	0	53	0	9.976639e-01	1	83	0	53	2		0	0	0	0	0	2	1	1	26	248	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.680000	1.000000	0.990000	0.895302	0.900000	1	8.000000e-01	9.800000e-01
PPAP2B	8613	broad.mit.edu	37	1	56990067	56990067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56990067G>A	ENST00000371250.3	-	3	1008	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B			17					GGACGCAGGCGCCCTATGGAC	0.517000																								0							SO:0001583	missense			ENST00000371250.3	1	1	hg19	CCDS604.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221226	0.95139	.	.	ENSG00000162407	ENST00000371250	D	0.82711	-1.64	5.7	5.7	0.88788	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97779	1.0231	10	0.87932	D	0	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	153	O14495	LPP3_HUMAN	C	153	ENSP00000360296:R153C	ENSP00000360296:R153C	R	-	1	0	PPAP2B	56762655	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.776000	0.99001	2.679000	0.91253	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	1	0	1	69	557	0	122	1	9.996959e-01	3	93	0	122	2		0	0	0	0	0	2	1	1	69	548	0	122	2								-19.998480	1	1	121410	2	43	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.950553	0.950000	1	9.000000e-01	9.900000e-01
PRKAA2	5563	broad.mit.edu	37	1	57170116	57170116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57170116C>T	ENST00000371244.4	+	7	1327	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit			23				Acetylsalicylic acid(DB00945)	TGAAGTTTACCGAGCTATGAA	0.383000																								0							SO:0001587	stop_gained			ENST00000371244.4	0	1	hg19	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	38	6.757115	0.97817	.	.	ENSG00000162409	ENST00000371244	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5127	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	421	.	ENSP00000360290:R421X	R	+	1	2	PRKAA2	56942704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.170000	0.42443	2.941000	0.99782	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	1	0	1	100	410	0	102	1	4.152510e-01	2	5	0	102	2		0	0	0	0	0	2	1	1	98	402	0	102	2								-2.457139	0	1	121410	2	32	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.987336	0.980000	1	9.600000e-01	1
C8A	731	broad.mit.edu	37	1	57340669	57340669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57340669C>T	ENST00000361249.3	+	3	315	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide			43					GGGGAACCATCTGCAGTGGTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000361249.3	1	1	hg19	CCDS606.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	1	0	0	14	137	0	38	0	1.005446e-02	0	2	0	38	2		0	0	0	0	0	2	1	9.997818e-01	14	135	0	38	2								-19.723520	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.830000	0.520000	0.990000	0.940000	0.818280	0.830000	0	6.700000e-01	9.500000e-01
C8A	731	broad.mit.edu	37	1	57378188	57378188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57378188G>A	ENST00000361249.3	+	10	1589	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	p.R498Q(1)		43					AATGCCTGCCGATGTGGGCCT	0.632000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000361249.3	1	1	hg19	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020350	0.93462	.	.	ENSG00000157131	ENST00000361249	D	0.86562	-2.14	5.73	5.73	0.89815	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93131	0.6533	10	0.62326	D	0.03	-18.9819	18.0789	0.89436	0.0:0.0:1.0:0.0	.	498	P07357	CO8A_HUMAN	Q	498	ENSP00000354458:R498Q	ENSP00000354458:R498Q	R	+	2	0	C8A	57150776	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.424000	0.80242	2.713000	0.92767	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	1	0	1	145	516	0	100	0	0	1	0	0	100	2		0	0	0	0	0	2	1	1	145	511	0	98	2								-3.955775	1	1	121412	3	42	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	0.990000	0.992817	0.990000	1	9.700000e-01	1
C8A	731	broad.mit.edu	37	1	57383318	57383318	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57383318T>G	ENST00000361249.3	+	11	1780	c.1684T>G	c.(1684-1686)Tgt>Ggt	p.C562G		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide			43					GAGAAGAGAGTGTGACAATCC	0.577000																								0							SO:0001583	missense			ENST00000361249.3	1	1	hg19	CCDS606.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547329	0.65311	.	.	ENSG00000157131	ENST00000361249	T	0.25912	1.77	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	H	0.99600	4.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82692	-0.0331	10	0.87932	D	0	-16.2378	13.1014	0.59222	0.0:0.0:0.0:1.0	.	562	P07357	CO8A_HUMAN	G	562	ENSP00000354458:C562G	ENSP00000354458:C562G	C	+	1	0	C8A	57155906	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.767000	0.68850	2.012000	0.59069	0.460000	0.39030	TGT		TCGA-IB-7651-01A-11D-2154-08	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	1	0	0	20	252	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	9.999952e-01	19	248	0	73	2								-19.999990	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.750000	0.490000	0.980000	0.770000	0.758239	0.750000	0	6.100000e-01	9.000000e-01
OMA1	115209	broad.mit.edu	37	1	59004545	59004545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:59004545C>T	ENST00000371226.3	-	2	535	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase			18	all_cancers(7;6.54e-05)				AGCTTGAAACCGTGGAGAAGT	0.393000																								0							SO:0001583	missense			ENST00000371226.3	1	1	hg19	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310058	0.60414	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.33654	2.47;2.48;1.85;1.83;1.83;1.4	5.35	-0.103	0.13609	.	0.705120	0.13458	N	0.386390	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B;B	0.33739	0.185;0.422	B;B	0.25506	0.021;0.061	T	0.15407	-1.0438	9	.	.	.	-0.1038	7.6729	0.28470	0.0:0.3024:0.4728:0.2248	.	141;141	Q96E52;Q96E52-2	OMA1_HUMAN;.	Q	141	ENSP00000351417:R141Q;ENSP00000360270:R141Q;ENSP00000395053:R141Q;ENSP00000409589:R141Q;ENSP00000416495:R141Q;ENSP00000392978:R141Q	.	R	-	2	0	OMA1	58777133	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.072000	0.11486	0.164000	0.19529	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	1	0	1	65	584	0	136	1	9.943479e-01	11	61	0	136	2		0	0	0	0	0	2	1	1	64	580	0	136	2								-2.505880	1	1	121412	1	26	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.780000	1.000000	0.990000	0.931384	0.930000	1	8.600000e-01	9.900000e-01
NPHP4	261734	broad.mit.edu	37	1	5924003	5924003	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5924003G>T	ENST00000378156.4	-	29	4352	c.4087C>A	c.(4087-4089)Cac>Aac	p.H1363N	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4			47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)			CTGTGCAGGTGGAATGTCCTC	0.632000																								0							SO:0001583	missense			ENST00000378156.4	1	1	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303324	0.10678	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.3	2.39	0.29439	.	0.749504	0.12359	N	0.475857	T	0.79076	0.4385	L	0.45581	1.43	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.62034	-0.6939	10	0.23891	T	0.37	.	3.0777	0.06252	0.3113:0.0:0.5017:0.187	.	1363	O75161	NPHP4_HUMAN	N	1363	ENSP00000367398:H1363N	ENSP00000367398:H1363N	H	-	1	0	NPHP4	5846590	1.000000	0.71417	0.013000	0.15412	0.386000	0.30323	2.329000	0.43876	0.607000	0.29982	-0.119000	0.15052	CAC		TCGA-IB-7651-01A-11D-2154-08	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	1	0	0	26	143	0	39	1	9.434085e-01	6	23	0	39	2		0	0	0	0	0	2	1	1	26	142	0	37	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.770000	1.000000	0.990000	0.936076	0.940000	1	8.700000e-01	9.900000e-01
NPHP4	261734	broad.mit.edu	37	1	5926444	5926444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5926444G>A	ENST00000378156.4	-	26	3898	c.3633C>T	c.(3631-3633)gtC>gtT	p.V1211V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4			47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)			AGTAAATGATGACAAAGAAGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000378156.4	0	1	hg19	CCDS44052.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	1	0	1	10	53	0	13	1	8.850578e-01	7	16	0	13	2		0	0	0	0	0	2	1	9.972386e-01	10	51	0	12	2								-18.471270	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.890000	0.590000	1.000000	0.990000	0.869805	0.890000	1	7.500000e-01	9.700000e-01
NPHP4	261734	broad.mit.edu	37	1	5935119	5935119	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5935119C>A	ENST00000378156.4	-	21	3124	c.2859G>T	c.(2857-2859)caG>caT	p.Q953H	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4			47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)			CGGCGATGACCTGTAGGTCCC	0.672000																								0							SO:0001583	missense			ENST00000378156.4	1	1	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.564220	0.45694	.	.	ENSG00000131697	ENST00000378156	D	0.87966	-2.32	4.88	3.95	0.45737	.	0.250550	0.33127	N	0.005249	D	0.83487	0.5265	L	0.43152	1.355	0.32498	N	0.539217	P	0.42337	0.776	B	0.42798	0.398	D	0.85336	0.1093	10	0.40728	T	0.16	.	12.6168	0.56582	0.0:0.9189:0.0:0.0811	.	953	O75161	NPHP4_HUMAN	H	953	ENSP00000367398:Q953H	ENSP00000367398:Q953H	Q	-	3	2	NPHP4	5857706	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.414000	0.44627	1.048000	0.40298	0.550000	0.68814	CAG		TCGA-IB-7651-01A-11D-2154-08	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	1	0	1	25	94	0	26	1	5.992963e-01	3	6	0	26	2		0	0	0	0	0	2	1	9.999999e-01	25	92	0	25	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.948599	0.950000	1	8.900000e-01	9.900000e-01
NPHP4	261734	broad.mit.edu	37	1	5964847	5964847	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5964847C>T	ENST00000378156.4	-	16	2238	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4			47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)			TGATGTTCCTCGGCAGTCCTG	0.547000																								0							SO:0001583	missense			ENST00000378156.4	1	1	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781207	0.16120	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86865	-2.18	5.1	-1.94	0.07571	.	1.397130	0.04674	N	0.411192	T	0.64305	0.2586	N	0.02539	-0.55	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.55798	-0.8084	10	0.10636	T	0.68	.	2.8422	0.05533	0.1131:0.4045:0.3466:0.1358	.	658	O75161	NPHP4_HUMAN	Q	658;61	ENSP00000367398:R658Q	ENSP00000367398:R658Q	R	-	2	0	NPHP4	5887434	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	-0.677000	0.05215	-0.771000	0.04608	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	1	0	0	43	429	0	96	1	5.043563e-01	5	13	0	96	2		0	0	0	0	0	2	1	1	43	419	0	96	2								-2.642100	1	1	121044	4	34	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.890000	0.690000	1.000000	0.960000	0.885269	0.890000	1	7.900000e-01	9.700000e-01
NPHP4	261734	broad.mit.edu	37	1	5965437	5965437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5965437C>T	ENST00000378156.4	-	15	2135	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4			47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)			GTCACAGGTTCTGTAGCGCTG	0.512000																								0							SO:0001583	missense			ENST00000378156.4	1	1	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304596	0.23736	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86694	-2.16	5.52	4.41	0.53225	.	0.499991	0.19623	N	0.109877	T	0.79364	0.4433	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.26202	0.067	T	0.71447	-0.4590	10	0.66056	D	0.02	.	10.7746	0.46342	0.0:0.839:0.0:0.161	.	624	O75161	NPHP4_HUMAN	K	624;27	ENSP00000367398:E624K	ENSP00000367398:E624K	E	-	1	0	NPHP4	5888024	0.285000	0.24296	0.020000	0.16555	0.002000	0.02628	3.034000	0.49751	2.586000	0.87340	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	0	0	1	116	386	0	144	1	9.894747e-01	7	19	0	144	2		0	0	0	0	0	2	1	1	115	383	0	143	2								-4.716530	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990897	0.980000	1	9.700000e-01	1
FGGY	55277	broad.mit.edu	37	1	60139717	60139717	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60139717C>T	ENST00000303721.7	+	14	1598	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	FGGY_ENST00000371212.1_Missense_Mutation_p.P387L|FGGY_ENST00000371210.1_Missense_Mutation_p.P176L|FGGY_ENST00000371218.4_Missense_Mutation_p.P499L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing			22	all_cancers(7;7.36e-05)				GCAGGCATGCCTGTGGTCCTG	0.582000																								0							SO:0001583	missense			ENST00000303721.7	1	1	hg19	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707696	0.89018	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.55	5.55	0.83447	Carbohydrate kinase, FGGY, C-terminal (1);	0.053130	0.85682	D	0.000000	D	0.96626	0.8899	H	0.96333	3.805	0.80722	D	1	D;P;D;P	0.89917	1.0;0.85;1.0;0.91	D;P;D;P	0.97110	1.0;0.599;1.0;0.737	D	0.97244	0.9893	9	.	.	.	-9.9795	19.6873	0.95984	0.0:1.0:0.0:0.0	.	499;387;475;475	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	499;475;387;176	ENSP00000360262:P499L;ENSP00000305922:P475L;ENSP00000360256:P387L;ENSP00000360254:P176L	.	P	+	2	0	FGGY	59912305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.929000	0.75852	2.890000	0.99128	0.585000	0.79938	CCT		TCGA-IB-7651-01A-11D-2154-08	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	1	0	0	13	76	0	27	0	8.598400e-01	1	22	0	27	2		0	0	0	0	0	2	1	9.995872e-01	12	74	0	27	2								-19.995830	1	1	121408	1	28	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.630000	1.000000	0.990000	0.884927	0.900000	1	7.800000e-01	9.800000e-01
HOOK1	51361	broad.mit.edu	37	1	60330860	60330860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60330860G>T	ENST00000371208.3	+	18	1944	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*|HOOK1_ENST00000465876.1_Intron	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1			29	all_cancers(7;0.000129)				GGTCCATGAAGAATTACAGAA	0.383000																								0							SO:0001587	stop_gained			ENST00000371208.3	0	1	hg19	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	42	9.638907	0.99226	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	6.03	6.03	0.97812	.	0.047134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.6398	0.99548	0.0:0.0:1.0:0.0	.	.	.	.	X	563;521	.	ENSP00000360252:E563X	E	+	1	0	HOOK1	60103448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.183000	0.89700	2.881000	0.98747	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	1	0	1	25	197	0	79	0	8.493064e-01	0	29	0	79	2		0	0	0	0	0	2	1	9.999999e-01	25	195	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.690000	1.000000	0.990000	0.901520	0.910000	1	8.100000e-01	9.800000e-01
CYP2J2	1573	broad.mit.edu	37	1	60377919	60377919	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377919C>A	ENST00000371204.3	-	3	481	c.438G>T	c.(436-438)agG>agT	p.R146S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2			26	all_cancers(7;0.000396)			Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AACCAAAGTTCCTTAGTGCTG	0.438000																								0							SO:0001583	missense			ENST00000371204.3	1	1	hg19	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404074	0.62288	.	.	ENSG00000134716	ENST00000371204	T	0.76578	-1.03	5.85	4.94	0.65067	.	0.045766	0.85682	D	0.000000	D	0.89567	0.6752	H	0.94658	3.565	0.40386	D	0.979495	D	0.60575	0.988	D	0.64595	0.927	D	0.91533	0.5244	10	0.87932	D	0	.	10.1236	0.42637	0.0:0.8462:0.0:0.1538	.	146	P51589	CP2J2_HUMAN	S	146	ENSP00000360247:R146S	ENSP00000360247:R146S	R	-	3	2	CYP2J2	60150507	0.302000	0.24454	0.994000	0.49952	0.775000	0.43874	-0.146000	0.10250	1.491000	0.48482	-0.136000	0.14681	AGG		TCGA-IB-7651-01A-11D-2154-08	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	1	0	0	49	506	0	110	1	1.912134e-01	2	6	0	110	2		0	0	0	0	0	2	1	1	48	500	0	109	2								-13.816770	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.690000	1.000000	0.930000	0.880371	0.880000	1	7.800000e-01	9.700000e-01
CYP2J2	1573	broad.mit.edu	37	1	60377927	60377927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377927C>T	ENST00000371204.3	-	3	473	c.430G>A	c.(430-432)Gca>Aca	p.A144T	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2			26	all_cancers(7;0.000396)			Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	TTCCTTAGTGCTGTCAGAGTG	0.438000																								0							SO:0001583	missense			ENST00000371204.3	1	1	hg19	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860623	0.02610	.	.	ENSG00000134716	ENST00000371204	T	0.67171	-0.25	5.85	3.59	0.41128	.	0.155125	0.56097	N	0.000022	T	0.25938	0.0632	N	0.00560	-1.38	0.19775	N	0.999956	B	0.02656	0.0	B	0.08055	0.003	T	0.36237	-0.9756	10	0.02654	T	1	.	7.9599	0.30066	0.0:0.1789:0.0:0.8211	.	144	P51589	CP2J2_HUMAN	T	144	ENSP00000360247:A144T	ENSP00000360247:A144T	A	-	1	0	CYP2J2	60150515	0.862000	0.29867	0.204000	0.23530	0.488000	0.33401	1.207000	0.32333	0.514000	0.28300	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	0	0	0	54	553	0	125	1	2.617557e-01	3	8	0	125	2		0	0	0	0	0	2	1	1	53	546	0	124	2								-14.879220	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.700000	1.000000	0.940000	0.887723	0.890000	1	8.000000e-01	9.700000e-01
CYP2J2	1573	broad.mit.edu	37	1	60392254	60392254	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60392254G>A	ENST00000371204.3	-	1	208	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2			26	all_cancers(7;0.000396)			Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CAAGGAAGAAGTTGCCAAGGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000371204.3	1	1	hg19	CCDS613.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	0	0	0	19	484	0	99	0	6.979614e-02	0	11	0	99	2		0	0	0	0	0	2	1	9.999880e-01	19	469	0	99	2								-17.986670	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.400000	0.250000	0.600000	0.400000	0.418063	0.400000	0	3.200000e-01	5.000000e-01
NPHP4	261734	broad.mit.edu	37	1	6046288	6046288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046288G>A	ENST00000378156.4	-	2	327	c.62C>T	c.(61-63)gCg>gTg	p.A21V	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4			47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)			AGGCTGGCGCGCTCTCTGTGG	0.577000																								0							SO:0001583	missense			ENST00000378156.4	1	1	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667150	0.47677	.	.	ENSG00000131697	ENST00000378156	D	0.86865	-2.18	5.71	2.58	0.30949	.	0.521925	0.18213	N	0.148132	D	0.85864	0.5796	L	0.31664	0.95	0.24460	N	0.994448	D	0.76494	0.999	P	0.59357	0.856	T	0.76621	-0.2892	10	0.28530	T	0.3	.	10.9578	0.47368	0.0895:0.1727:0.7378:0.0	.	21	O75161	NPHP4_HUMAN	V	21	ENSP00000367398:A21V	ENSP00000367398:A21V	A	-	2	0	NPHP4	5968875	0.001000	0.12720	0.914000	0.36105	0.339000	0.28857	-0.158000	0.10070	0.733000	0.32492	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	0	0	0	9	117	0	30	0	1.274908e-01	1	7	0	30	2		0	0	0	0	0	2	1	9.945683e-01	9	116	0	30	2								-13.268810	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.700000	0.370000	0.980000	0.720000	0.705635	0.700000	0	5.200000e-01	8.800000e-01
NPHP4	261734	broad.mit.edu	37	1	6046333	6046333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046333C>T	ENST00000378156.4	-	2	282	c.17G>A	c.(16-18)aGg>aAg	p.R6K	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4			47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)			GGTGAAGATCCTGTGCCAGTC	0.577000																								0							SO:0001583	missense			ENST00000378156.4	1	1	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	7.776	0.708515	0.15239	.	.	ENSG00000131697	ENST00000378156	D	0.86297	-2.1	5.41	-2.07	0.07276	.	1.197840	0.06089	N	0.663313	T	0.80859	0.4704	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60929	-0.7165	10	0.14656	T	0.56	.	11.3369	0.49509	0.0:0.3751:0.0:0.6249	.	6	O75161	NPHP4_HUMAN	K	6	ENSP00000367398:R6K	ENSP00000367398:R6K	R	-	2	0	NPHP4	5968920	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-0.822000	0.04448	-0.338000	0.08413	-0.136000	0.14681	AGG		TCGA-IB-7651-01A-11D-2154-08	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	0	0	1	17	109	0	33	0	1.507139e-01	1	4	0	33	2		0	0	0	0	0	2	1	9.999736e-01	17	107	0	33	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.910000	0.670000	1.000000	0.990000	0.897870	0.910000	1	8.000000e-01	9.800000e-01
KCNAB2	8514	broad.mit.edu	37	1	6155597	6155597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6155597C>T	ENST00000164247.1	+	13	1281	c.717C>T	c.(715-717)ggC>ggT	p.G239G	KCNAB2_ENST00000602612.1_Silent_p.G239G|KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000352527.1_Silent_p.G225G|KCNAB2_ENST00000458166.2_Silent_p.G172G	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2			8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)			CAGGAGTGGGCGCCATGACCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000164247.1	0	1	hg19	CCDS55.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	0	0	0	32	329	1	56	0	4.921861e-01	0	50	1	56	5		0	0	0	0	0	2	1	9.644978e-01	32	323	1	55	20								-3.075755	1	1	121378	6	37	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.860000	0.640000	1.000000	0.930000	0.860123	0.860000	1	7.500000e-01	9.600000e-01
CHD5	26038	broad.mit.edu	37	1	6166503	6166503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6166503C>T	ENST00000262450.3	-	40	5908	c.5809G>A	c.(5809-5811)Gga>Aga	p.G1937R	CHD5_ENST00000378021.1_Intron	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			ACAATCCCTCCCGGTCCAGGG	0.657000																								0							SO:0001583	missense			ENST00000262450.3	0	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051807	0.55218	.	.	ENSG00000116254	ENST00000262450	D	0.90324	-2.65	4.86	4.86	0.63082	.	0.688966	0.13390	N	0.391516	D	0.86661	0.5986	L	0.27053	0.805	0.80722	D	1	B	0.33022	0.394	B	0.32864	0.154	D	0.85433	0.1150	10	0.62326	D	0.03	-0.5348	18.3532	0.90345	0.0:1.0:0.0:0.0	.	1937	Q8TDI0	CHD5_HUMAN	R	1937	ENSP00000262450:G1937R	ENSP00000262450:G1937R	G	-	1	0	CHD5	6089090	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	2.951000	0.49089	2.408000	0.81797	0.491000	0.48974	GGA		TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	0	6	37	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.663271e-01	6	36	0	10	2								-13.134490	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.830000	0.440000	1.000000	0.990000	0.806859	0.830000	0	6.400000e-01	9.600000e-01
CHD5	26038	broad.mit.edu	37	1	6169927	6169927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6169927C>T	ENST00000262450.3	-	38	5605	c.5506G>A	c.(5506-5508)Gcc>Acc	p.A1836T	CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	p.A1836T(1)		16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			TGGCTCTCGGCGAGGCACTCC	0.662000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262450.3	1	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	37	6.365145	0.97507	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.92965	-3.14;1.86	4.65	4.65	0.58169	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000001	D	0.96131	0.8739	M	0.81239	2.535	0.80722	D	1	P;D	0.76494	0.683;0.999	B;D	0.83275	0.407;0.996	D	0.96838	0.9616	10	0.87932	D	0	-19.1569	17.8789	0.88834	0.0:1.0:0.0:0.0	.	1836;693	Q8TDI0;Q5TG85	CHD5_HUMAN;.	T	1836;693;693	ENSP00000262450:A1836T;ENSP00000367260:A693T	ENSP00000262450:A1836T	A	-	1	0	CHD5	6092514	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.680000	0.84062	2.276000	0.75962	0.511000	0.50034	GCC		TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	0	48	467	0	111	0	2.564729e-02	1	2	0	111	2		0	0	0	0	0	2	1	1	47	462	0	110	2								-14.459570	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.900000	0.710000	1.000000	0.990000	0.898130	0.900000	1	8.100000e-01	9.800000e-01
CHD5	26038	broad.mit.edu	37	1	6181169	6181169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6181169C>T	ENST00000262450.3	-	33	5007	c.4908G>A	c.(4906-4908)ccG>ccA	p.P1636P	CHD5_ENST00000378021.1_Silent_p.P493P	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			CCCAACCTCTCGGCAGCTGCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000262450.3	1	1	hg19	CCDS57.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1	12	117	0	25	0	1.052510e-02	1	1	0	25	2		0	0	0	0	0	2	1	9.991102e-01	12	113	0	25	2								-17.806020	1	1	121374	6	32	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.820000	0.500000	0.990000	0.940000	0.806818	0.820000	0	6.500000e-01	9.500000e-01
CHD5	26038	broad.mit.edu	37	1	6184720	6184720	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6184720C>A	ENST00000262450.3	-	30	4495	c.4396G>T	c.(4396-4398)Gcc>Tcc	p.A1466S	CHD5_ENST00000378021.1_Splice_Site_p.A323S	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			GACACATAGGCTCTGGGGTGG	0.692000																								0							SO:0001630	splice_region_variant			ENST00000262450.3	0	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	36	5.814527	0.96982	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.91996	-2.95;2.03	4.54	4.54	0.55810	Domain of unknown function DUF1086 (1);	0.000000	0.64402	D	0.000001	D	0.95639	0.8582	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.994;0.999	D	0.96293	0.9215	10	0.87932	D	0	-23.6995	17.6537	0.88172	0.0:1.0:0.0:0.0	.	1466;323	Q8TDI0;Q5TG85	CHD5_HUMAN;.	S	1466;982;323;874;874;323	ENSP00000262450:A1466S;ENSP00000367260:A323S	ENSP00000262450:A1466S	A	-	1	0	CHD5	6107307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.394000	0.79862	2.251000	0.74343	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	0	0	0	5	17	0	8	0	0	0	1	0	8	2		0	0	0	0	0	2	1	9.297390e-01	5	15	0	8	2								-15.077990	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.850000	0.460000	1.000000	0.990000	0.824163	0.850000	1	6.700000e-01	9.600000e-01
CHD5	26038	broad.mit.edu	37	1	6190296	6190296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6190296C>T	ENST00000262450.3	-	22	3454	c.3355G>A	c.(3355-3357)Gac>Aac	p.D1119N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			CAGTCCGAGTCGTAGATGATG	0.642000																								0							SO:0001583	missense			ENST00000262450.3	1	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447517	0.96205	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.81330	-1.48	4.81	4.81	0.61882	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.93648	0.7971	H	0.97365	3.99	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96007	0.8998	10	0.87932	D	0	-40.3082	18.2593	0.90030	0.0:1.0:0.0:0.0	.	1119	Q8TDI0	CHD5_HUMAN	N	1119;635;527;527	ENSP00000262450:D1119N	ENSP00000262450:D1119N	D	-	1	0	CHD5	6112883	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	7.699000	0.84547	2.380000	0.81148	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	0	36	360	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	36	354	0	80	2								-3.318794	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.880000	0.660000	1.000000	0.960000	0.875164	0.880000	1	7.700000e-01	9.700000e-01
CHD5	26038	broad.mit.edu	37	1	6202222	6202222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6202222G>A	ENST00000262450.3	-	15	2501	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			ACTCCGAATGGCGTTGTCCTC	0.577000																								0							SO:0001583	missense			ENST00000262450.3	1	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955651	0.92726	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.90900	-2.75	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.073472	0.53938	D	0.000051	D	0.92770	0.7701	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93421	0.6777	10	0.54805	T	0.06	-22.6321	16.6218	0.84932	0.0:0.0:1.0:0.0	.	801	Q8TDI0	CHD5_HUMAN	V	801;317;209;209	ENSP00000262450:A801V	ENSP00000262450:A801V	A	-	2	0	CHD5	6124809	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.843000	0.86859	1.977000	0.57605	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1	94	876	0	200		0	0	0	0	200	2		0	0	0	0	0	2	1	1	93	869	0	197	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.810000	1.000000	0.990000	0.938448	0.940000	1	8.800000e-01	9.900000e-01
CHD5	26038	broad.mit.edu	37	1	6211106	6211106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6211106C>T	ENST00000262450.3	-	7	1079	c.980G>A	c.(979-981)cGc>cAc	p.R327H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			CTTCTTCTTGCGCCTCCTCTT	0.602000																								0							SO:0001583	missense			ENST00000262450.3	1	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.147784	0.37923	.	.	ENSG00000116254	ENST00000262450	D	0.85088	-1.94	4.0	2.0	0.26442	Zinc finger, FYVE/PHD-type (1);	0.085001	0.47093	U	0.000255	T	0.69593	0.3128	L	0.38175	1.15	0.80722	D	1	P	0.46220	0.874	B	0.32864	0.154	T	0.65100	-0.6250	10	0.87932	D	0	-18.1038	3.128	0.06413	0.3835:0.409:0.0:0.2075	.	327	Q8TDI0	CHD5_HUMAN	H	327	ENSP00000262450:R327H	ENSP00000262450:R327H	R	-	2	0	CHD5	6133693	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	2.966000	0.49208	0.261000	0.21753	-0.370000	0.07254	CGC		TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	0	24	245	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	9.999997e-01	24	241	0	52	2								-20.000000	1	1	121408	9	41	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.850000	0.600000	0.990000	0.930000	0.845211	0.850000	1	7.200000e-01	9.600000e-01
CHD5	26038	broad.mit.edu	37	1	6214959	6214959	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6214959C>T	ENST00000262450.3	-	5	606		c.e5-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			AATGAGTGGCCTGTAGGGGGA	0.617000																								0							SO:0001630	splice_region_variant			ENST00000262450.3	1	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989004	0.35131	.	.	ENSG00000116254	ENST00000262450	.	.	.	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1333	0.81461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6137546	1.000000	0.71417	0.894000	0.35097	0.226000	0.24999	7.381000	0.79718	1.876000	0.54355	0.313000	0.20887	.		TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	0	35	220	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	34	215	0	37	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.950000	0.790000	1.000000	0.990000	0.943231	0.950000	1	8.800000e-01	9.900000e-01
CHD5	26038	broad.mit.edu	37	1	6215750	6215750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6215750C>A	ENST00000262450.3	-	4	514	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			CCCCACTCGGCCATGAGCTGC	0.627000																								0							SO:0001583	missense			ENST00000262450.3	1	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021652	0.07634	.	.	ENSG00000116254	ENST00000262450	D	0.90004	-2.6	4.31	3.39	0.38822	.	0.360385	0.24296	N	0.039780	D	0.82300	0.5007	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.12156	0.007	T	0.73395	-0.3996	10	0.09590	T	0.72	-28.1265	12.3353	0.55062	0.0:0.9171:0.0:0.0829	.	139	Q8TDI0	CHD5_HUMAN	S	139	ENSP00000262450:A139S	ENSP00000262450:A139S	A	-	1	0	CHD5	6138337	1.000000	0.71417	0.984000	0.44739	0.369000	0.29798	2.566000	0.45948	0.955000	0.37878	-0.136000	0.14681	GCC		TCGA-IB-7651-01A-11D-2154-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	1	0	1	44	201	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	44	197	0	46	2								-3.334841	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.966278	0.970000	1	9.200000e-01	1
INADL	10207	broad.mit.edu	37	1	62366960	62366960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62366960G>A	ENST00000371158.2	+	24	3324	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	INADL_ENST00000316485.6_Silent_p.E1070E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)			103					ATAGTGTTGAGATTTTTAGAG	0.338000																								0							SO:0001819	synonymous_variant			ENST00000371158.2	1	1	hg19	CCDS617.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	1	0	1	32	255	0	43	1	9.929117e-01	23	41	0	43	2		0	0	0	0	0	2	1	1	32	250	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.915188	0.920000	1	8.300000e-01	9.800000e-01
KANK4	163782	broad.mit.edu	37	1	62739298	62739298	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62739298C>A	ENST00000371153.4	-	3	1856	c.1478G>T	c.(1477-1479)aGc>aTc	p.S493I	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4			81					GGAGAGGAAGCTATGTACAGA	0.577000																								0							SO:0001583	missense			ENST00000371153.4	1	1	hg19	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305397	0.60305	.	.	ENSG00000132854	ENST00000371153	T	0.50277	0.75	4.63	4.63	0.57726	.	0.000000	0.45126	D	0.000394	T	0.64193	0.2576	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.65985	-0.6035	10	0.62326	D	0.03	-21.4958	13.195	0.59732	0.0:1.0:0.0:0.0	.	493	Q5T7N3	KANK4_HUMAN	I	493	ENSP00000360195:S493I	ENSP00000360195:S493I	S	-	2	0	KANK4	62511886	0.999000	0.42202	0.996000	0.52242	0.365000	0.29674	2.290000	0.43531	2.563000	0.86464	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	1	0	1	122	428	0	101	0	4.996462e-02	0	2	0	101	2		0	0	0	0	0	2	1	1	121	418	1	100	18								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991151	0.990000	1	9.700000e-01	1
DOCK7	85440	broad.mit.edu	37	1	62941521	62941521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62941521G>A	ENST00000340370.5	-	45	5742	c.5725C>T	c.(5725-5727)Cga>Tga	p.R1909*	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R1929*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7			92					TACATGAATCGACGAAGATTG	0.403000																								0							SO:0001587	stop_gained			ENST00000340370.5	0	1	hg19	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.097485|13.097485	0.99719|0.99719	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79598	.|0.4473	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77768	.|-0.2464	.|3	0.02654|.	T|.	1|.	.|.	19.6764|19.6764	0.95936|0.95936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1940;1929;1909;670|1102	.|.	ENSP00000251157:R1929X|.	R|S	-|-	1|2	2|0	DOCK7|DOCK7	62714109|62714109	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.922000|0.922000	0.55478|0.55478	8.004000|8.004000	0.88535|0.88535	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	1	0	1	55	488	1	122	0	9.032137e-01	1	51	1	122	3		0	0	0	0	0	2	1	9.999997e-01	54	480	1	121	16								-17.225590	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.770000	1.000000	0.990000	0.926246	0.930000	1	8.500000e-01	9.900000e-01
DOCK7	85440	broad.mit.edu	37	1	62953075	62953075	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62953075G>T	ENST00000340370.5	-	42	5426	c.5409C>A	c.(5407-5409)ggC>ggA	p.G1803G	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7			92					CTACCTCCCAGCCAGTACTCT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000340370.5	1	1	hg19	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	7.712	0.695324	0.15106	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.76219	0.3957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	.	19.5557	0.95347	0.0:0.0:1.0:0.0	.	.	.	.	M	997	.	.	L	-	1	2	DOCK7	62725663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.999000	0.88496	2.628000	0.89032	0.586000	0.80456	CTG		TCGA-IB-7651-01A-11D-2154-08	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	1	0	0	19	281	0	85	0	1.884318e-01	0	12	0	85	2		0	0	0	0	0	2	1	9.999902e-01	19	275	0	85	2								-5.888512	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.660000	0.420000	0.930000	0.660000	0.679628	0.660000	0	5.300000e-01	8.200000e-01
ANGPTL3	27329	broad.mit.edu	37	1	63069843	63069843	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63069843T>G	ENST00000371129.3	+	6	1215	c.1135T>G	c.(1135-1137)Ttg>Gtg	p.L379V	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3			13					AAACAAAGATTTGGTGTTTTC	0.373000																								0							SO:0001583	missense			ENST00000371129.3	1	1	hg19	CCDS622.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923441	0.52653	.	.	ENSG00000132855	ENST00000371129	T	0.76578	-1.03	5.6	2.01	0.26516	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.098369	0.64402	D	0.000002	T	0.53190	0.1781	L	0.41906	1.305	0.33659	D	0.60952	P	0.51791	0.948	P	0.50570	0.644	T	0.50233	-0.8852	10	0.15952	T	0.53	.	3.4284	0.07420	0.2153:0.4539:0.0:0.3307	.	379	Q9Y5C1	ANGL3_HUMAN	V	379	ENSP00000360170:L379V	ENSP00000360170:L379V	L	+	1	2	ANGPTL3	62842431	0.982000	0.34865	0.964000	0.40570	0.724000	0.41520	2.327000	0.43858	0.420000	0.25954	0.533000	0.62120	TTG		TCGA-IB-7651-01A-11D-2154-08	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	1	0	1	110	411	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	109	402	0	99	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.989488	0.980000	1	9.700000e-01	1
DOCK7	85440	broad.mit.edu	37	1	63113959	63113959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63113959C>T	ENST00000340370.5	-	6	567	c.550G>A	c.(550-552)Gat>Aat	p.D184N	DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N|DOCK7_ENST00000251157.5_Missense_Mutation_p.D184N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7			92					GGGGTATCATCTATTGACATT	0.318000																								0							SO:0001583	missense			ENST00000340370.5	1	1	hg19	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832618	0.91036	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.20738	2.48;2.48;2.05	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.71581	2.175	0.80722	D	1	B;P;D;D;P	0.69078	0.129;0.887;0.968;0.997;0.511	B;P;P;D;B	0.66497	0.046;0.811;0.864;0.944;0.209	T	0.09840	-1.0656	10	0.42905	T	0.14	.	17.4531	0.87597	0.0:1.0:0.0:0.0	.	184;184;184;184;184	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	N	184	ENSP00000251157:D184N;ENSP00000340742:D184N;ENSP00000384446:D184N	ENSP00000251157:D184N	D	-	1	0	DOCK7	62886547	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.563000	0.82314	2.333000	0.79357	0.462000	0.41574	GAT		TCGA-IB-7651-01A-11D-2154-08	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	1	0	1	65	232	0	71	1	9.894925e-01	8	20	0	71	2		0	0	0	0	0	2	1	1	65	230	0	71	2								-3.931136	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981170	0.980000	1	9.500000e-01	1
GPR153	387509	broad.mit.edu	37	1	6313786	6313786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6313786G>A	ENST00000377893.2	-	3	1037	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153			14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			ACCAGCACAGGGAAGCCCATG	0.632000																								0							SO:0001583	missense			ENST00000377893.2	1	1	hg19	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549552	0.86127	.	.	ENSG00000158292	ENST00000377893	T	0.35973	1.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54282	-0.8317	10	0.87932	D	0	-38.9726	17.1055	0.86662	0.0:0.0:1.0:0.0	.	260	Q6NV75	GP153_HUMAN	S	260	ENSP00000367125:P260S	ENSP00000367125:P260S	P	-	1	0	GPR153	6236373	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.790000	0.99075	2.384000	0.81235	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2	1	0	1	65	302	0	78	1	9.847030e-01	11	22	0	78	2		0	0	0	0	0	2	1	1	65	296	0	77	2								-3.034724	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.977124	0.970000	1	9.400000e-01	1
ACOT7	11332	broad.mit.edu	37	1	6324691	6324691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6324691G>A	ENST00000377855.2	-	9	1255	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V|ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000608083.1_Missense_Mutation_p.A328V|ACOT7_ENST00000361521.4_Missense_Mutation_p.A360V|ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7			16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)			CTGTCGCTTCGCCTTCATCTG	0.622000													GBM(74;673 1226 4974 11850 13190)											0							SO:0001583	missense			ENST00000377855.2	0	1	hg19	CCDS65.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800147	0.90538	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.991	P;P;P;P	0.58820	0.551;0.458;0.846;0.562	T	0.53528	-0.8426	10	0.33940	T	0.23	.	15.1435	0.72630	0.0:0.0:1.0:0.0	.	360;370;340;319	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	V	370;340;319;360;255	ENSP00000367086:A370V;ENSP00000367076:A340V;ENSP00000367073:A319V;ENSP00000354615:A360V;ENSP00000439218:A255V	ENSP00000354615:A360V	A	-	2	0	ACOT7	6247278	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	5.861000	0.69553	2.647000	0.89833	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	1	0	1	20	130	0	21	1	1	27	200	0	21	2		0	0	0	0	0	2	1	9.999961e-01	20	126	0	21	2								-3.327760	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.700000	1.000000	0.990000	0.908136	0.920000	1	8.200000e-01	9.800000e-01
FOXD3	27022	broad.mit.edu	37	1	63789347	63789347	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63789347G>A	ENST00000371116.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3			5					CCCGCGAGCCGGGCAACCCGG	0.637000													Pancreas(68;276 1750 11966 31252)											0							SO:0001819	synonymous_variant			ENST00000371116.2	1	1	hg19	CCDS624.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1	1	0	0	169	648	0	176	1	3.631818e-01	2	4	0	176	2		0	0	0	0	0	2	1	1	164	624	0	166	2								-3.044632	1	1	121412	4	42	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.993756	0.990000	1	9.800000e-01	1
ITGB3BP	23421	broad.mit.edu	37	1	63955760	63955760	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63955760A>G	ENST00000271002.10	-	3	259	c.178T>C	c.(178-180)Tca>Cca	p.S60P	ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P|ITGB3BP_ENST00000371092.3_Missense_Mutation_p.S99P	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)			9					TAACCATTTGATAGTCCATTT	0.328000																								0							SO:0001583	missense			ENST00000271002.10	1	1	hg19	CCDS30736.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874450	0.51695	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.57595	0.39;0.39;0.39	5.45	0.367	0.16140	.	0.312682	0.23014	N	0.052931	T	0.23210	0.0561	L	0.59436	1.845	0.32293	N	0.56607	P;P;P	0.44380	0.834;0.552;0.757	B;B;B	0.38562	0.276;0.255;0.261	T	0.05852	-1.0860	10	0.66056	D	0.02	-0.2302	2.7656	0.05319	0.5081:0.2769:0.0779:0.1371	.	60;99;60	Q13352-2;Q13352-5;Q13352	.;.;CENPR_HUMAN	P	60;99;60	ENSP00000271002:S60P;ENSP00000360133:S99P;ENSP00000283568:S60P	ENSP00000271002:S60P	S	-	1	0	ITGB3BP	63728348	0.993000	0.37304	0.923000	0.36655	0.696000	0.40369	1.494000	0.35616	0.145000	0.18977	0.533000	0.62120	TCA		TCGA-IB-7651-01A-11D-2154-08	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	1	0	1	44	148	0	53	1	9.997547e-01	22	24	0	53	2		0	0	0	0	0	2	1	1	43	146	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.972230	0.970000	1	9.400000e-01	1
EFCAB7	84455	broad.mit.edu	37	1	64027454	64027454	+	Nonsense_Mutation	SNP	C	C	T	rs144850202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64027454C>T	ENST00000371088.4	+	11	1669	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7			19					AGCTAATGATCGAGAAGGAGA	0.353000																								0							SO:0001587	stop_gained			ENST00000371088.4	0	1	hg19	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	37	6.480789	0.97603	.	.	ENSG00000203965	ENST00000371088	.	.	.	5.76	2.79	0.32731	.	0.256083	0.37669	N	0.002000	.	.	.	.	.	.	0.37285	D	0.907992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6178	11.8871	0.52608	0.2475:0.6335:0.119:0.0	.	.	.	.	X	475	.	ENSP00000360129:R475X	R	+	1	2	EFCAB7	63800042	1.000000	0.71417	0.448000	0.26945	0.491000	0.33493	2.120000	0.41968	0.319000	0.23209	-0.347000	0.07816	CGA		TCGA-IB-7651-01A-11D-2154-08	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	1	0	1	25	222	0	38	0	6.705689e-01	0	22	0	38	2		0	0	0	0	0	2	1	9.999999e-01	25	219	0	38	2								-2.966608	1	1	121410	74	50	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.650000	1.000000	0.990000	0.881619	0.890000	1	7.800000e-01	9.700000e-01
PGM1	5236	broad.mit.edu	37	1	64120045	64120045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64120045C>T	ENST00000371084.3	+	10	1720	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|RN7SL130P_ENST00000489463.2_RNA|PGM1_ENST00000371083.4_Nonsense_Mutation_p.R521*|PGM1_ENST00000483707.1_3'UTR	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1			20					AATCGTCTTCCGACTGAGCGG	0.532000																								0							SO:0001587	stop_gained			ENST00000371084.3	0	1	hg19	CCDS625.1	.	.	.	.	.	.	.	.	.	.	C	37	6.146605	0.97324	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	.	.	.	5.45	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3083	13.3093	0.60370	0.2968:0.7032:0.0:0.0	.	.	.	.	X	479;503;306;521	.	ENSP00000360124:R521X	R	+	1	2	PGM1	63892633	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	1.134000	0.31442	1.379000	0.46325	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	1	0	1	66	215	0	77	1	1	9	174	0	77	2		0	0	0	0	0	2	1	1	66	212	0	76	2								-4.005751	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982434	0.980000	1	9.500000e-01	1
ROR1	4919	broad.mit.edu	37	1	64475030	64475030	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64475030T>G	ENST00000371079.1	+	2	520	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ROR1_ENST00000371080.1_Missense_Mutation_p.S49A|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1			51					ATGGAACATCTCAAGTGAACT	0.443000																								0							SO:0001583	missense			ENST00000371079.1	1	1	hg19	CCDS626.1	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284512	0.10513	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.74947	0.0;-0.89	5.86	5.86	0.93980	Immunoglobulin-like (1);	0.000000	0.30401	U	0.009703	T	0.50137	0.1598	N	0.04090	-0.28	0.80722	D	1	P;P	0.44690	0.841;0.841	P;P	0.51170	0.661;0.661	T	0.58515	-0.7623	10	0.13470	T	0.59	.	15.9094	0.79461	0.0:0.0:0.0:1.0	.	49;49	Q01973;Q66K77	ROR1_HUMAN;.	A	49;49;52	ENSP00000360121:S49A;ENSP00000360120:S49A	ENSP00000360120:S49A	S	+	1	0	ROR1	64247618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.106000	0.64597	2.241000	0.73720	0.533000	0.62120	TCA		TCGA-IB-7651-01A-11D-2154-08	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	1	0	1	185	715	0	166	0	4.399444e-01	1	6	0	166	2		0	0	0	0	0	2	1	1	183	705	0	166	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994414	0.990000	1	9.800000e-01	1
UBE2U	148581	broad.mit.edu	37	1	64676474	64676474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64676474G>T	ENST00000371076.3	+	4	535	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)			6					ACAACCCTGAGAAGTGGAATA	0.308000																								0							SO:0001583	missense			ENST00000371076.3	1	1	hg19	CCDS627.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.473912	0.01044	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.47528	0.84;0.84	5.5	-11.0	0.00169	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	4.517410	0.00166	N	0.000008	T	0.06280	0.0162	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13442	-1.0509	10	0.18710	T	0.47	.	0.9198	0.01312	0.3285:0.1971:0.3413:0.1331	.	97	Q5VVX9	UBE2U_HUMAN	D	97	ENSP00000360117:E97D;ENSP00000360116:E97D	ENSP00000360116:E97D	E	+	3	2	UBE2U	64449062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.616000	0.00881	-2.767000	0.00367	-1.083000	0.02208	GAG		TCGA-IB-7651-01A-11D-2154-08	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	1	0	1	29	145	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	27	144	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.946276	0.950000	1	8.900000e-01	9.900000e-01
HES2	54626	broad.mit.edu	37	1	6479365	6479365	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6479365G>T	ENST00000377834.4	-	3	275	c.177C>A	c.(175-177)gtC>gtA	p.V59V	HES2_ENST00000471190.1_5'Flank|HES2_ENST00000489730.1_Silent_p.V59V|HES2_ENST00000377837.1_Intron|HES2_ENST00000377836.4_Intron|HES2_ENST00000487437.1_Intron	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2			2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			TCATTTCCAGGACGTCTGCCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000377834.4	1	1	hg19	CCDS30574.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001881.1	1	0	0	15	144	0	23	0	0	0	1	0	23	2		0	0	0	0	0	2	1	9.998822e-01	15	141	0	23	2								-19.987450	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.840000	0.540000	0.990000	0.960000	0.828072	0.840000	0	6.900000e-01	9.500000e-01
CACHD1	57685	broad.mit.edu	37	1	65129424	65129424	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65129424T>G	ENST00000371073.2	+	14	1998	c.1998T>G	c.(1996-1998)taT>taG	p.Y666*	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Y615*			Q5VU97	CAHD1_HUMAN	cache domain containing 1			55					CCTCCCCCTATGAGCACCTCA	0.537000																								0							SO:0001587	stop_gained			ENST00000371073.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	39	7.571816	0.98365	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	5.92	-5.19	0.02832	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.2379	15.5787	0.76414	0.0:0.2889:0.0:0.7111	.	.	.	.	X	666;615	.	ENSP00000290039:Y615X	Y	+	3	2	CACHD1	64902012	0.175000	0.23083	0.855000	0.33649	0.990000	0.78478	-0.484000	0.06528	-0.793000	0.04475	-0.334000	0.08254	TAT		TCGA-IB-7651-01A-11D-2154-08	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	126	963	0	202	0	1.364477e-02	0	2	0	202	2		0	0	0	0	0	2	1	1	122	942	0	200	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.974609	0.970000	1	9.400000e-01	1
CACHD1	57685	broad.mit.edu	37	1	65137258	65137258	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65137258C>A	ENST00000371073.2	+	17	2399	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S749Y			Q5VU97	CAHD1_HUMAN	cache domain containing 1			55					ACACAGCTGTCTTCTGGGCAC	0.413000																								0							SO:0001583	missense			ENST00000371073.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.15	2.749343	0.49257	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.26957	1.7;1.71	6.08	5.17	0.71159	Cache (1);	0.045645	0.85682	D	0.000000	T	0.19805	0.0476	L	0.53249	1.67	0.58432	D	0.999993	B	0.23990	0.095	B	0.34722	0.188	T	0.06552	-1.0820	10	0.72032	D	0.01	-20.5468	15.3777	0.74625	0.0:0.9336:0.0:0.0664	.	800	Q5VU97	CAHD1_HUMAN	Y	800;749	ENSP00000360113:S800Y;ENSP00000290039:S749Y	ENSP00000290039:S749Y	S	+	2	0	CACHD1	64909846	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.146000	0.77373	1.595000	0.50050	-0.136000	0.14681	TCT		TCGA-IB-7651-01A-11D-2154-08	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	75	643	0	134	0	1.257263e-01	0	6	0	134	2		0	0	0	0	0	2	1	1	75	627	0	133	2								-19.999640	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.945595	0.950000	1	8.900000e-01	9.900000e-01
RAVER2	55225	broad.mit.edu	37	1	65268680	65268680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65268680G>T	ENST00000294428.3	+	6	1205	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	RAVER2_ENST00000371072.4_Missense_Mutation_p.S376I|RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2			24					ACACCTCACAGCTTGCCACAT	0.308000																								0							SO:0001583	missense			ENST00000294428.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.56	1.674745	0.29783	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.33865	1.39;1.4	5.67	2.69	0.31865	.	0.420646	0.31697	N	0.007205	T	0.21921	0.0528	L	0.50333	1.59	0.25190	N	0.990134	P;P	0.50443	0.893;0.935	P;P	0.51945	0.487;0.685	T	0.06643	-1.0815	10	0.44086	T	0.13	-20.3287	6.1473	0.20293	0.1664:0.286:0.5476:0.0	.	376;376	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	I	376;376;82	ENSP00000360112:S376I;ENSP00000294428:S376I	ENSP00000294428:S376I	S	+	2	0	RAVER2	65041268	1.000000	0.71417	0.878000	0.34440	0.009000	0.06853	2.378000	0.44309	0.286000	0.22352	-0.179000	0.13096	AGC		TCGA-IB-7651-01A-11D-2154-08	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	36	421	0	67	1	5.806500e-01	6	17	0	67	2		0	0	0	0	0	2	1	1	34	415	0	67	2								-10.089980	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.810000	0.590000	0.980000	0.830000	0.815492	0.810000	0	7.000000e-01	9.300000e-01
JAK1	3716	broad.mit.edu	37	1	65332855	65332855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65332855G>A	ENST00000342505.4	-	7	932	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1			120				Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGTCTGATGGACTTATTCA	0.363000			Mis		ALL										Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0							SO:0001819	synonymous_variant			ENST00000342505.4	1	1	hg19	CCDS41346.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	1	0	1	69	296	0	63	1	1	62	281	0	63	2		0	0	0	0	0	2	1	1	68	292	0	61	2								-3.132816	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.979954	0.980000	1	9.500000e-01	1
DNAJC6	9829	broad.mit.edu	37	1	65855014	65855014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855014G>A	ENST00000395325.3	+	10	1255	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	DNAJC6_ENST00000371069.4_Silent_p.Q423Q|DNAJC6_ENST00000263441.7_Silent_p.Q353Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6			39					TAGAACTACAGCCCCATGACA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000395325.3	1	1	hg19	CCDS30739.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1	1	0	1	48	373	0	87	0	1.067203e-01	1	4	0	87	2		0	0	0	0	0	2	1	1	47	361	0	86	2								-18.062260	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.790000	1.000000	0.990000	0.939602	0.940000	1	8.800000e-01	9.900000e-01
DNAJC6	9829	broad.mit.edu	37	1	65855062	65855062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855062C>T	ENST00000395325.3	+	10	1303	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	DNAJC6_ENST00000371069.4_Silent_p.C439C|DNAJC6_ENST00000263441.7_Silent_p.C369C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6			39					AACATTACTGCACAAAAGATG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000395325.3	1	1	hg19	CCDS30739.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1	1	0	0	63	282	0	91	0	0	0	1	0	91	2		0	0	0	0	0	2	1	1	62	280	0	90	2								-20.000000	1	0	121412	1	32	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.977096	0.970000	1	9.400000e-01	1
NOL9	79707	broad.mit.edu	37	1	6592123	6592123	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6592123T>C	ENST00000377705.5	-	9	1584	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9			19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)			TCTCGAAGAATTTTGTTATGT	0.463000																								0							SO:0001583	missense			ENST00000377705.5	1	1	hg19	CCDS80.1	.	.	.	.	.	.	.	.	.	.	T	0.456	-0.891319	0.02491	.	.	ENSG00000162408	ENST00000377705	T	0.45276	0.9	5.64	-1.04	0.10068	Pre-mRNA cleavage complex II Clp1 (1);	0.471757	0.20863	N	0.084305	T	0.24431	0.0592	N	0.22421	0.69	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.15636	-1.0430	10	0.29301	T	0.29	-8.2714	10.3635	0.44010	0.0:0.3013:0.0:0.6987	.	518	Q5SY16	NOL9_HUMAN	V	518	ENSP00000366934:I518V	ENSP00000366934:I518V	I	-	1	0	NOL9	6514710	0.029000	0.19370	0.002000	0.10522	0.382000	0.30200	0.135000	0.15952	-0.240000	0.09696	0.379000	0.24179	ATT		TCGA-IB-7651-01A-11D-2154-08	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	1	0	1	38	290	0	77	1	6.939360e-01	4	16	0	77	2		0	0	0	0	0	2	1	1	38	281	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.760000	1.000000	0.990000	0.930199	0.940000	1	8.600000e-01	9.900000e-01
LEPR	3953	broad.mit.edu	37	1	66058449	66058449	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66058449A>C	ENST00000349533.6	+	6	789	c.604A>C	c.(604-606)Aca>Cca	p.T202P	LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor			36					GCCTGTGCCAACAGCCAAACT	0.428000																								0							SO:0001583	missense			ENST00000349533.6	1	1	hg19	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343691	0.24339	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55234	0.55;0.55;0.55;0.53;0.55	5.96	-7.16	0.01516	.	1.385230	0.04603	N	0.398819	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	P;P;P	0.43633	0.586;0.709;0.813	B;B;B	0.35073	0.192;0.128;0.195	T	0.15321	-1.0441	10	0.26408	T	0.33	2.5165	7.6606	0.28400	0.1856:0.0891:0.5662:0.1591	.	202;202;202	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	P	202	ENSP00000340884:T202P;ENSP00000330393:T202P;ENSP00000360099:T202P;ENSP00000360098:T202P;ENSP00000360097:T202P	ENSP00000340884:T202P	T	+	1	0	LEPR	65831037	0.000000	0.05858	0.002000	0.10522	0.332000	0.28634	-1.672000	0.01952	-1.482000	0.01860	-0.263000	0.10527	ACA		TCGA-IB-7651-01A-11D-2154-08	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	0	12	369	0	70	0	2.965032e-02	0	8	0	70	2		0	0	0	0	0	2	1	9.990624e-01	10	365	0	69	2								-3.584491	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.340000	0.180000	0.550000	0.330000	0.356038	0.340000	0	2.500000e-01	4.500000e-01
LEPR	3953	broad.mit.edu	37	1	66081902	66081902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66081902G>T	ENST00000349533.6	+	15	2392	c.2207G>T	c.(2206-2208)aGc>aTc	p.S736I	LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.S736I|LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor			36					TGGCCTATGAGCAAAGGTAAG	0.373000																								0							SO:0001583	missense			ENST00000349533.6	0	1	hg19	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929212	0.73327	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.5	4.59	0.56863	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (2);	0.272849	0.47455	D	0.000238	T	0.64918	0.2642	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.71751	-0.4498	10	0.87932	D	0	-5.7801	14.3195	0.66476	0.0717:0.0:0.9283:0.0	.	736;736;736	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	I	736	ENSP00000340884:S736I;ENSP00000330393:S736I;ENSP00000360099:S736I;ENSP00000360098:S736I;ENSP00000360097:S736I	ENSP00000340884:S736I	S	+	2	0	LEPR	65854490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.916000	0.56416	1.317000	0.45149	-0.140000	0.14226	AGC		TCGA-IB-7651-01A-11D-2154-08	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	0	7	176	0	35	0	1.552616e-01	0	16	0	35	2		0	0	0	0	0	2	1	9.792688e-01	7	171	0	35	2								-9.462511	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.410000	0.180000	0.740000	0.390000	0.439906	0.410000	0	2.800000e-01	5.800000e-01
LEPR	3953	broad.mit.edu	37	1	66102160	66102160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66102160C>T	ENST00000349533.6	+	20	3145	c.2960C>T	c.(2959-2961)gCc>gTc	p.A987V	LEPR_ENST00000406510.3_Missense_Mutation_p.A54V	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor			36					GTTAAATACGCCACGCTGATC	0.433000																								0							SO:0001583	missense			ENST00000349533.6	0	1	hg19	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118589	0.77323	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.70045	-0.45	5.93	5.93	0.95920	.	0.098323	0.64402	D	0.000001	D	0.82435	0.5036	M	0.83012	2.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.83343	-0.0007	10	0.72032	D	0.01	-13.5821	20.3311	0.98718	0.0:1.0:0.0:0.0	.	987	P48357	LEPR_HUMAN	V	987;54	ENSP00000330393:A987V	ENSP00000330393:A987V	A	+	2	0	LEPR	65874748	1.000000	0.71417	0.973000	0.42090	0.284000	0.27059	5.286000	0.65639	2.803000	0.96430	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	0	9	329	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	9.938958e-01	9	323	0	97	2								-9.274442	1	1	121410	2	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.290000	0.140000	0.500000	0.280000	0.307485	0.290000	0	2.000000e-01	4.000000e-01
TAS1R1	80835	broad.mit.edu	37	1	6639462	6639462	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6639462G>A	ENST00000333172.6	+	6	2537	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I	TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I|TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1			29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)			CACGGCCAGCGTCTACGACGG	0.567000																								0							SO:0001583	missense			ENST00000333172.6	1	1	hg19	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.486|3.486	-0.104955|-0.104955	0.06967|0.06967	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000415267|ENST00000333172;ENST00000351136	.|D;D	.|0.88046	.|-2.33;-2.33	5.18|5.18	1.56|1.56	0.23342|0.23342	.|GPCR, family 3, C-terminal (2);	.|0.658638	.|0.14093	.|N	.|0.341843	T|T	0.73094|0.73094	0.3543|0.3543	L|L	0.35341|0.35341	1.055|1.055	0.22796|0.22796	N|N	0.998728|0.998728	.|P;B	.|0.39862	.|0.692;0.056	.|B;B	.|0.31390	.|0.129;0.022	T|T	0.65541|0.65541	-0.6143|-0.6143	5|10	.|0.52906	.|T	.|0.07	.|.	1.6027|1.6027	0.02678|0.02678	0.4112:0.1318:0.3228:0.1342|0.4112:0.1318:0.3228:0.1342	.|.	.|528;782	.|Q7RTX1-2;Q7RTX1	.|.;TS1R1_HUMAN	H|I	239|782;528	.|ENSP00000331867:V782I;ENSP00000312558:V528I	.|ENSP00000331867:V782I	R|V	+|+	2|1	0|0	TAS1R1|TAS1R1	6562049|6562049	0.000000|0.000000	0.05858|0.05858	0.427000|0.427000	0.26684|0.26684	0.151000|0.151000	0.21798|0.21798	-0.070000|-0.070000	0.11523|0.11523	0.295000|0.295000	0.22570|0.22570	0.591000|0.591000	0.81541|0.81541	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1	1	0	0	39	366	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	39	361	0	87	2								-20.000000	1	1	121412	1	30	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.900000	0.700000	1.000000	0.990000	0.896566	0.900000	1	8.100000e-01	9.800000e-01
THAP3	90326	broad.mit.edu	37	1	6692877	6692877	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6692877G>T	ENST00000054650.4	+	6	618	c.460G>T	c.(460-462)Gca>Tca	p.A154S	THAP3_ENST00000377627.3_Intron|DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000307896.6_Missense_Mutation_p.A153S	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3			4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)			GAGGCCGCAAGCAACAGAGGC	0.622000																								0							SO:0001583	missense			ENST00000054650.4	1	1	hg19	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413824	0.25465	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.95001	-3.58;-3.58	3.9	2.98	0.34508	.	1.429030	0.05053	N	0.478551	D	0.90539	0.7035	L	0.43152	1.355	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.78181	-0.2304	10	0.13470	T	0.59	-14.5844	7.5838	0.27980	0.1194:0.0:0.8806:0.0	.	153;154	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	S	154;153	ENSP00000054650:A154S;ENSP00000311537:A153S	ENSP00000054650:A154S	A	+	1	0	THAP3	6615464	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	1.455000	0.35190	0.965000	0.38133	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	1	0	1	43	444	0	130	1	9.916238e-01	14	64	0	130	2		0	0	0	0	0	2	1	1	43	433	0	130	2								-12.947910	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.880000	0.670000	1.000000	0.930000	0.874184	0.880000	1	7.700000e-01	9.600000e-01
THAP3	90326	broad.mit.edu	37	1	6693075	6693075	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6693075C>A	ENST00000054650.4	+	6	816	c.658C>A	c.(658-660)Ctc>Atc	p.L220I	THAP3_ENST00000377627.3_Intron|DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000307896.6_Missense_Mutation_p.L219I	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3			4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)			GTCCAGCCGCCTCCGTGCTTG	0.602000																								0							SO:0001583	missense			ENST00000054650.4	1	1	hg19	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329607	0.41297	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.96554	-4.05;-4.05	4.2	3.28	0.37604	.	4.768470	0.01191	N	0.007330	D	0.96568	0.8880	M	0.66939	2.045	0.21579	N	0.999637	D;P	0.54047	0.964;0.939	P;B	0.49597	0.616;0.412	D	0.86334	0.1700	10	0.54805	T	0.06	-21.1191	7.6954	0.28592	0.0:0.8842:0.0:0.1158	.	219;220	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	I	220;219	ENSP00000054650:L220I;ENSP00000311537:L219I	ENSP00000054650:L220I	L	+	1	0	THAP3	6615662	0.382000	0.25148	0.046000	0.18839	0.361000	0.29550	2.393000	0.44442	0.977000	0.38444	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	1	0	1	27	106	0	28	1	9.999987e-01	25	69	0	28	2		0	0	0	0	0	2	1	1	27	104	0	28	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.960000	0.810000	1.000000	0.990000	0.951059	0.960000	1	9.000000e-01	9.900000e-01
SGIP1	84251	broad.mit.edu	37	1	67155901	67155901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67155901C>A	ENST00000371037.4	+	17	1549	c.1472C>A	c.(1471-1473)tCt>tAt	p.S491Y	SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1			71					CCCATTCATTCTTCCAGCCCT	0.453000																								0							SO:0001583	missense			ENST00000371037.4	1	1	hg19	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939189	0.92526	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	6.04	6.04	0.98038	.	0.650667	0.17876	N	0.159010	T	0.15305	0.0369	M	0.64997	1.995	0.54753	D	0.999983	D;P;P;D	0.71674	0.998;0.826;0.826;0.963	D;P;P;P	0.78314	0.991;0.467;0.467;0.642	T	0.00326	-1.1815	10	0.56958	D	0.05	-11.7141	20.5792	0.99380	0.0:1.0:0.0:0.0	.	521;91;281;491	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	Y	522;292;281;521;494;291;491	ENSP00000237247:S522Y;ENSP00000360078:S292Y;ENSP00000360074:S281Y;ENSP00000360075:S291Y;ENSP00000360076:S491Y	ENSP00000237247:S522Y	S	+	2	0	SGIP1	66928489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.873000	0.98535	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	0	0	1	93	821	1	196	0	5.609554e-01	0	18	1	196	2		0	0	0	0	0	2	1	1	93	791	1	195	16								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.830000	1.000000	0.990000	0.948923	0.950000	1	8.900000e-01	9.900000e-01
TCTEX1D1	200132	broad.mit.edu	37	1	67236111	67236111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67236111G>A	ENST00000282670.2	+	3	289	c.161G>A	c.(160-162)cGt>cAt	p.R54H	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1			13					CCCAGTCAGCGTGATGATATC	0.333000																								0							SO:0001583	missense			ENST00000282670.2	1	1	hg19	CCDS633.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570248	0.28003	0.0	1.16E-4	ENSG00000152760	ENST00000282670	T	0.14516	2.5	6.06	-10.6	0.00265	.	0.742522	0.13351	N	0.394416	T	0.01940	0.0061	N	0.24115	0.695	0.18873	N	0.999985	B	0.09022	0.002	B	0.04013	0.001	T	0.40997	-0.9533	10	0.28530	T	0.3	-21.7112	11.5878	0.50929	0.5997:0.2418:0.1585:0.0	.	54	Q8N7M0	TC1D1_HUMAN	H	54	ENSP00000282670:R54H	ENSP00000282670:R54H	R	+	2	0	TCTEX1D1	67008699	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.489000	0.06490	-1.795000	0.01255	-0.182000	0.12963	CGT		TCGA-IB-7651-01A-11D-2154-08	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	1	0	1	137	453	0	144	0	2.339741e-01	0	4	0	144	2		0	0	0	0	0	2	1	1	136	444	0	144	2								-20.000000	1	1	121408	11	43	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992651	0.990000	1	9.700000e-01	1
INSL5	10022	broad.mit.edu	37	1	67266800	67266800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67266800C>T	ENST00000304526.2	-	1	139	c.105G>A	c.(103-105)cgG>cgA	p.R35R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5			8					AGATGACTGTCCGTATGTATT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000304526.2	1	1	hg19	CCDS634.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	0	0	0	10	367	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	9.966719e-01	10	360	0	67	2								-3.553591	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.280000	0.140000	0.490000	0.280000	0.304357	0.280000	0	2.100000e-01	3.900000e-01
WDR78	79819	broad.mit.edu	37	1	67299780	67299780	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67299780T>C	ENST00000371026.3	-	12	1840	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E	WDR78_ENST00000431318.1_Silent_p.E341E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78			32					CTCGATCTTGTTCTATCCACT	0.333000																								0							SO:0001819	synonymous_variant			ENST00000371026.3	1	1	hg19	CCDS635.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	1	0	1	37	141	0	49	0	5.912454e-01	0	9	0	49	2		0	0	0	0	0	2	1	1	37	138	0	49	2								-19.999850	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.964518	0.970000	1	9.200000e-01	1
WDR78	79819	broad.mit.edu	37	1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78			32					TGATAGCCAACGGCTAAAAGG	0.363000																								0							SO:0001583	missense			ENST00000371026.3	1	1	hg19	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	2.27E-4	0.0	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67865	1.44;-0.29;-0.29	5.35	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162824	0.53938	D	0.000052	T	0.48114	0.1482	L	0.46157	1.445	0.41589	D	0.988782	P;P	0.40534	0.72;0.599	B;B	0.37833	0.259;0.133	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.4496	14.3454	0.66658	0.0:0.9272:0.0:0.0728	.	300;554	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	I	554;300;320	ENSP00000360065:V554I;ENSP00000393182:V300I;ENSP00000433682:V320I	ENSP00000360065:V554I	V	-	1	0	WDR78	67073970	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	3.904000	0.56325	2.514000	0.84764	0.644000	0.83932	GTT		TCGA-IB-7651-01A-11D-2154-08	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	1	0	1	90	319	0	86	0	3.942207e-01	0	6	0	86	2		0	0	0	0	0	2	1	1	88	315	0	85	2								-20.000000	1	1	121410	8	41	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.987100	0.980000	1	9.600000e-01	1
WDR78	79819	broad.mit.edu	37	1	67306218	67306218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67306218C>T	ENST00000371026.3	-	9	1483	c.1428G>A	c.(1426-1428)tgG>tgA	p.W476*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78			32					AGGAAAAAGACCAAAGTCGTT	0.398000																								0							SO:0001587	stop_gained			ENST00000371026.3	0	1	hg19	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439263	0.83885	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8706	18.8908	0.92403	0.0:1.0:0.0:0.0	.	.	.	.	X	476;222;242;476;98	.	ENSP00000360062:W476X	W	-	3	0	WDR78	67078806	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.311000	0.72835	2.794000	0.96219	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	1	0	1	69	357	0	69	0	6.887712e-01	0	14	0	69	2		0	0	0	0	0	2	1	1	69	349	0	69	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.976141	0.970000	1	9.400000e-01	1
C1orf141	400757	broad.mit.edu	37	1	67558913	67558913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67558913T>G	ENST00000371007.2	-	8	1087	c.978A>C	c.(976-978)aaA>aaC	p.K326N	C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N|C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141			18					CCACAAATTGTTTTGTTAGGC	0.328000																								0							SO:0001583	missense			ENST00000371007.2	1	1	hg19	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660596	0.29515	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.48201	0.82;0.82;0.82	4.56	2.03	0.26663	.	0.667620	0.13397	N	0.390906	T	0.17492	0.0420	L	0.32530	0.975	0.09310	N	1	P	0.39250	0.665	B	0.39805	0.31	T	0.08953	-1.0697	10	0.72032	D	0.01	-5.4976	4.0586	0.09827	0.0:0.1103:0.2124:0.6773	.	326	Q5JVX7	CA141_HUMAN	N	326	ENSP00000360046:K326N;ENSP00000360045:K326N;ENSP00000444018:K326N	ENSP00000360045:K326N	K	-	3	2	C1orf141	67331501	0.337000	0.24766	0.006000	0.13384	0.007000	0.05969	0.712000	0.25779	0.847000	0.35167	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	1	0	1	58	471	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	58	468	0	118	2								-19.433930	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.942678	0.950000	1	8.800000e-01	9.900000e-01
C1orf141	400757	broad.mit.edu	37	1	67559028	67559028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67559028G>A	ENST00000371007.2	-	8	972	c.863C>T	c.(862-864)gCg>gTg	p.A288V	C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V|C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141			18					TGTGTGGCCCGCTTTAAAAGA	0.323000																								0							SO:0001583	missense			ENST00000371007.2	1	1	hg19	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	0.326	-0.958916	0.02267	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.25250	1.81;1.81;1.81	4.86	-4.35	0.03656	.	3.875600	0.00807	N	0.001460	T	0.01730	0.0055	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.02654	T	1	4.6833	3.9217	0.09247	0.4152:0.0:0.3258:0.2589	.	288	Q5JVX7	CA141_HUMAN	V	288	ENSP00000360046:A288V;ENSP00000360045:A288V;ENSP00000444018:A288V	ENSP00000360045:A288V	A	-	2	0	C1orf141	67331616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	-0.927000	0.03766	-1.456000	0.01031	GCG		TCGA-IB-7651-01A-11D-2154-08	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	1	0	1	52	437	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	52	428	0	100	2								-3.318794	1	1	121402	28	45	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.932898	0.940000	1	8.700000e-01	9.900000e-01
IL23R	149233	broad.mit.edu	37	1	67705865	67705865	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67705865A>G	ENST00000347310.5	+	9	1220	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000371002.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S|IL23R_ENST00000473881.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor			21					TCATTAGACAACAGAGGAGAC	0.343000																								0							SO:0001583	missense			ENST00000347310.5	1	1	hg19	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.206588|2.206588	0.39003|0.39003	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.37915|.	1.17;1.29|.	5.19|5.19	1.56|1.56	0.23342|0.23342	.|.	1.218930|.	0.05371|.	N|.	0.535435|.	T|T	0.25531|0.25531	0.0621|0.0621	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B;B;B;B;P;P;B;P|.	0.38504|.	0.091;0.037;0.091;0.037;0.005;0.634;0.571;0.091;0.571|.	B;B;B;B;B;B;B;B;B|.	0.33392|.	0.027;0.012;0.027;0.018;0.003;0.124;0.163;0.027;0.121|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.22706|.	T|.	0.39|.	-18.5664|-18.5664	6.9466|6.9466	0.24522|0.24522	0.7309:0.0:0.2691:0.0|0.7309:0.0:0.2691:0.0	.|.	96;174;174;108;179;204;257;95;350|.	Q5VWK5-2;B6HY71;B6HY89;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;.;.;IL23R_HUMAN|.	S|A	350;179;108;95|112	ENSP00000321345:N350S;ENSP00000378652:N95S|.	ENSP00000321345:N350S|.	N|T	+|+	2|1	0|0	IL23R|IL23R	67478453|67478453	0.011000|0.011000	0.17503|0.17503	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	1.051000|1.051000	0.30417|0.30417	0.164000|0.164000	0.19529|0.19529	-0.256000|-0.256000	0.11100|0.11100	AAC|ACA		TCGA-IB-7651-01A-11D-2154-08	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	1	0	0	19	217	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.999915e-01	18	215	0	46	2								-7.490248	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.800000	0.520000	0.990000	0.830000	0.794229	0.800000	0	6.500000e-01	9.300000e-01
DEPDC1	55635	broad.mit.edu	37	1	68954087	68954087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:68954087G>A	ENST00000456315.2	-	5	805	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1			13					ACTACTCCACGTTTACTTGTA	0.338000																								0							SO:0001583	missense			ENST00000456315.2	1	1	hg19	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467382	0.43839	2.27E-4	0.0	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964;ENST00000525124	T;T;T	0.18174	2.23;2.23;2.23	5.34	5.34	0.76211	Rho GTPase activation protein (1);	0.133715	0.64402	D	0.000002	T	0.07908	0.0198	N	0.14661	0.345	0.38425	D	0.946294	P;P	0.52842	0.837;0.956	B;B	0.42882	0.326;0.401	T	0.09164	-1.0687	10	0.66056	D	0.02	-2.1483	19.0216	0.92917	0.0:0.0:1.0:0.0	.	231;231	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	231;231;176;10	ENSP00000412292:R231C;ENSP00000360005:R231C;ENSP00000431477:R10C	ENSP00000360003:R176C	R	-	1	0	DEPDC1	68726675	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	8.664000	0.91139	2.488000	0.83962	0.585000	0.79938	CGT		TCGA-IB-7651-01A-11D-2154-08	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	1	0	0	18	232	0	46	1	1.198161e-01	2	6	0	46	2		0	0	0	0	0	2	1	9.999837e-01	18	230	0	46	2								-6.754295	1	1	121386	2	33	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.740000	0.460000	0.970000	0.750000	0.743976	0.740000	0	5.900000e-01	8.900000e-01
LRRC7	57554	broad.mit.edu	37	1	70226019	70226019	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70226019C>T	ENST00000035383.5	+	1	162	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000310961.5_Silent_p.F49F|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	p.F44F(1)		162					TCTTTAACTTCGAACGAACAT	0.393000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000035383.5	1	1	hg19	CCDS645.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	1	31	251	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	31	246	0	58	2								-12.709110	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.720000	1.000000	0.990000	0.911039	0.920000	1	8.300000e-01	9.800000e-01
LRRC7	57554	broad.mit.edu	37	1	70300475	70300475	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70300475C>A	ENST00000035383.5	+	4	429	c.399C>A	c.(397-399)ggC>ggA	p.G133G	LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000310961.5_Silent_p.G138G|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7			162					TACCTGATGGCTTCACACAGC	0.348000																								0							SO:0001819	synonymous_variant			ENST00000035383.5	1	1	hg19	CCDS645.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	1	43	394	1	97	0	0	0	1	1	97	2		0	0	0	0	0	2	1	9.999269e-01	43	390	1	97	16								-3.318794	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.907328	0.910000	1	8.200000e-01	9.800000e-01
LRRC7	57554	broad.mit.edu	37	1	70486761	70486761	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70486761C>T	ENST00000035383.5	+	14	1410	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	LRRC7_ENST00000310961.5_Silent_p.A465A|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7			162					TGACTGTTGCCTTTGAATTTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000035383.5	1	1	hg19	CCDS645.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	0	1	42	148	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	42	143	0	36	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.970134	0.970000	1	9.300000e-01	1
LRRC7	57554	broad.mit.edu	37	1	70503819	70503819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70503819C>T	ENST00000035383.5	+	19	2228	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	LRRC7_ENST00000310961.5_Missense_Mutation_p.P738L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7			162					TTCCCACAGCCTCTTGATTCA	0.498000																								0							SO:0001583	missense			ENST00000035383.5	1	1	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999194	0.54147	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.68025	-0.3;-0.18;1.35	5.38	4.46	0.54185	.	0.128125	0.52532	D	0.000064	T	0.67401	0.2889	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.71656	0.974;0.879	T	0.67110	-0.5753	10	0.33141	T	0.24	.	13.5366	0.61650	0.0:0.9239:0.0:0.0761	.	17;733	F8WE45;Q96NW7	.;LRRC7_HUMAN	L	738;733;17;556	ENSP00000309245:P738L;ENSP00000035383:P733L;ENSP00000394867:P17L	ENSP00000035383:P733L	P	+	2	0	LRRC7	70276407	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.420000	0.80191	1.250000	0.43966	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	1	0	0	77	844	0	200		0	0	0	0	200	2		0	0	0	0	0	2	1	1	76	820	0	200	2								-17.425520	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.870000	0.700000	0.990000	0.890000	0.872755	0.870000	1	7.800000e-01	9.500000e-01
LRRC7	57554	broad.mit.edu	37	1	70504112	70504112	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70504112A>G	ENST00000035383.5	+	19	2521	c.2491A>G	c.(2491-2493)Aca>Gca	p.T831A	LRRC7_ENST00000310961.5_Missense_Mutation_p.T836A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7			162					ACACAGACACACACCAGAAAC	0.498000																								0							SO:0001583	missense			ENST00000035383.5	1	1	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732561	0.30684	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38077	1.16;1.24;2.33	5.53	4.34	0.51931	.	0.180173	0.50627	D	0.000103	T	0.14056	0.0340	L	0.40543	1.245	0.35902	D	0.830459	B;B;B	0.17465	0.007;0.005;0.022	B;B;B	0.19148	0.018;0.011;0.024	T	0.06770	-1.0808	10	0.44086	T	0.13	.	7.076	0.25205	0.7017:0.1522:0.0:0.1461	.	115;831;831	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	A	836;831;115;654	ENSP00000309245:T836A;ENSP00000035383:T831A;ENSP00000394867:T115A	ENSP00000035383:T831A	T	+	1	0	LRRC7	70276700	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.430000	0.52807	2.113000	0.64589	0.383000	0.25322	ACA		TCGA-IB-7651-01A-11D-2154-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	0	1	34	277	1	83		0	0	0	1	83	2		0	0	0	0	0	2	1	9.990236e-01	34	269	1	82	14								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.915514	0.920000	1	8.300000e-01	9.800000e-01
LRRC7	57554	broad.mit.edu	37	1	70541910	70541910	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70541910C>A	ENST00000035383.5	+	22	4297	c.4267C>A	c.(4267-4269)Cgg>Agg	p.R1423R	LRRC7_ENST00000310961.5_Silent_p.R1381R|LRRC7_ENST00000415775.2_Silent_p.R707R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7			162					ACAGGCCACCCGGGGACCTCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000035383.5	1	1	hg19	CCDS645.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	0	0	18	443	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	9.999794e-01	17	435	0	103	2								-2.409110	0	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.410000	0.250000	0.620000	0.410000	0.432408	0.410000	0	3.300000e-01	5.200000e-01
ANKRD13C	81573	broad.mit.edu	37	1	70740430	70740430	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70740430C>A	ENST00000370944.4	-	11	1680	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C			19					AAATTCCTGGCTCATGGCTAT	0.358000																								0							SO:0001583	missense			ENST00000370944.4	1	1	hg19	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008699	0.93346	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.58210	0.35;0.35	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.991;0.996	T	0.80995	-0.1133	10	0.87932	D	0	-15.944	18.7421	0.91777	0.0:1.0:0.0:0.0	.	421;456	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	I	456;421	ENSP00000359982:S456I;ENSP00000262346:S421I	ENSP00000262346:S421I	S	-	2	0	ANKRD13C	70513018	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.404000	0.79996	2.537000	0.85549	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	0	0	0	17	656	0	151	1	7.076781e-01	5	91	0	151	2		0	0	0	0	0	2	1	9.999588e-01	16	645	0	151	2								-2.739490	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.270000	0.160000	0.410000	0.270000	0.282896	0.270000	0	2.100000e-01	3.500000e-01
ANKRD13C	81573	broad.mit.edu	37	1	70742526	70742526	+	Splice_Site	SNP	G	G	A	rs141273386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70742526G>A	ENST00000370944.4	-	10	1530	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	ANKRD13C_ENST00000262346.6_Splice_Site_p.P371L|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C			19					TCTTCGAATCGGCTGCCAAAA	0.313000																								0							SO:0001630	splice_region_variant			ENST00000370944.4	1	0	hg19	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958445	0.53400	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.42513	0.97;0.97	4.76	4.76	0.60689	.	0.048245	0.85682	D	0.000000	T	0.25419	0.0618	L	0.55990	1.75	0.80722	D	1	P;B	0.36282	0.546;0.387	B;B	0.32928	0.096;0.155	T	0.06789	-1.0807	10	0.22109	T	0.4	.	18.2515	0.90005	0.0:0.0:1.0:0.0	.	371;406	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	L	406;371	ENSP00000359982:P406L;ENSP00000262346:P371L	ENSP00000262346:P371L	P	-	2	0	ANKRD13C	70515114	1.000000	0.71417	0.846000	0.33378	0.642000	0.38348	8.934000	0.92915	2.564000	0.86499	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	1	0	1	30	156	0	42	1	9.999893e-01	22	75	0	42	2		0	0	0	0	0	2	1	1	26	142	0	41	2								-3.189106	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.946204	0.950000	1	8.900000e-01	9.900000e-01
HHLA3	11147	broad.mit.edu	37	1	70832204	70832204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70832204C>T	ENST00000359875.5	+	2	475	c.335C>T	c.(334-336)gCg>gTg	p.A112V	HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000370940.5_Nonsense_Mutation_p.R80*|HHLA3_ENST00000361764.4_3'UTR	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3			4					gaatttgaggcgaatccatag	0.413000																								0							SO:0001583	missense			ENST00000359875.5	0	1	hg19	CCDS30753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.009|7.009	0.556444|0.556444	0.13436|0.13436	.|.	.|.	ENSG00000197568|ENSG00000197568	ENST00000359875;ENST00000531950|ENST00000370940;ENST00000432224	.|.	.|.	.|.	0.137|0.137	0.137|0.137	0.14787|0.14787	.|.	.|.	.|.	.|.	.|.	T|.	0.11793|.	0.0287|.	.|.	.|.	.|.	0.42570|0.42570	D|D	0.993172|0.993172	B|.	0.31611|.	0.331|.	B|.	0.17722|.	0.019|.	T|.	0.24119|.	-1.0169|.	6|.	0.87932|0.02654	D|T	0|1	.|.	.|.	.|.	.|.	.|.	112|.	Q9XRX5|.	HHLA3_HUMAN|.	V|X	112|80;113	.|.	ENSP00000352938:A112V|ENSP00000359978:R80X	A|R	+|+	2|1	0|2	HHLA3|HHLA3	70604792|70604792	0.003000|0.003000	0.15002|0.15002	0.016000|0.016000	0.15963|0.15963	0.016000|0.016000	0.09150|0.09150	0.283000|0.283000	0.18846|0.18846	0.291000|0.291000	0.22468|0.22468	0.297000|0.297000	0.19635|0.19635	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	0	0	0	9	82	0	10	1	9.852267e-01	13	58	0	10	2		0	0	0	0	0	2	1	9.950054e-01	9	82	0	10	2								-15.434430	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.810000	0.460000	0.990000	0.980000	0.795841	0.810000	0	6.300000e-01	9.500000e-01
PTGER3	5733	broad.mit.edu	37	1	71437417	71437417	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71437417C>T	ENST00000306666.5	-	4	1380		c.e4-1		PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)			25				Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTTTCATTATCTGTTAGAATA	0.303000																								0							SO:0001630	splice_region_variant			ENST00000306666.5	1	1	hg19	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260033	0.59321	.	.	ENSG00000050628	ENST00000306666	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3246	0.55003	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTGER3	71210005	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.904000	0.48719	2.605000	0.88082	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	0	0	0	13	489	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	9.994921e-01	13	481	0	102	2								-2.418848	0	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.280000	0.150000	0.450000	0.270000	0.293211	0.280000	0	2.100000e-01	3.700000e-01
PTGER3	5733	broad.mit.edu	37	1	71512538	71512538	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71512538C>T	ENST00000306666.5	-	1	933	c.723G>A	c.(721-723)gcG>gcA	p.A241A	PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000370924.4_Silent_p.A241A|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)			25				Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGACTGTCAGCGCCAAGAGCC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000306666.5	1	1	hg19	CCDS657.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	1	0	0	53	530	0	117	0	4.561036e-02	0	4	0	117	2		0	0	0	0	0	2	1	9.999983e-01	53	528	1	117	17								-14.859900	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.710000	1.000000	0.960000	0.894761	0.900000	1	8.100000e-01	9.700000e-01
ZRANB2	9406	broad.mit.edu	37	1	71536592	71536592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71536592G>A	ENST00000370920.3	-	7	902	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2			15					GAGCGACTTCGTCTATTAGAT	0.408000																								0							SO:0001587	stop_gained			ENST00000370920.3	0	1	hg19	CCDS659.1	.	.	.	.	.	.	.	.	.	.	G	38	7.206621	0.98136	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	.	.	.	5.76	3.75	0.43078	.	0.189634	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.2861	0.66247	0.0:0.0:0.6251:0.3749	.	.	.	.	X	201	.	ENSP00000254821:R201X	R	-	1	2	ZRANB2	71309180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.443000	0.52907	1.531000	0.49152	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	1	0	1	50	428	0	74	1	9.999892e-01	4	140	0	74	2		0	0	0	0	0	2	1	1	49	425	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.770000	1.000000	0.990000	0.928084	0.930000	1	8.600000e-01	9.900000e-01
NEGR1	257194	broad.mit.edu	37	1	72241933	72241933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:72241933C>T	ENST00000357731.5	-	3	696	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1			32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)			ACGTTGGTTCCTTCATTGACG	0.388000																								0							SO:0001583	missense			ENST00000357731.5	0	1	hg19	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679154	0.68042	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.81330	-1.48;-1.48;-1.48	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.946	D	0.93664	0.6984	10	0.87932	D	0	-8.9553	18.9902	0.92788	0.0:1.0:0.0:0.0	.	151;153	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	R	153;25;151	ENSP00000350364:G153R;ENSP00000305938:G25R;ENSP00000413294:G151R	ENSP00000305938:G25R	G	-	1	0	NEGR1	72014521	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.137000	0.77295	2.780000	0.95670	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	1	0	1	17	103	0	16	0	9.358497e-01	0	31	0	16	2		0	0	0	0	0	2	1	9.999760e-01	16	103	0	16	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.680000	1.000000	0.990000	0.902682	0.910000	1	8.100000e-01	9.800000e-01
LRRIQ3	127255	broad.mit.edu	37	1	74492596	74492596	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74492596G>T	ENST00000395089.1	-	7	1775	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	LRRIQ3_ENST00000354431.4_Silent_p.A592A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3			73					CTTTTTCAAAGGCAATCATAT	0.284000																								0							SO:0001819	synonymous_variant			ENST00000395089.1	1	1	hg19	CCDS41350.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	1	0	0	8	143	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.894147e-01	8	141	0	52	2								-11.424230	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.560000	0.270000	0.910000	0.540000	0.579348	0.560000	0	3.900000e-01	7.500000e-01
LRRIQ3	127255	broad.mit.edu	37	1	74649258	74649258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74649258G>A	ENST00000395089.1	-	1	110	c.111C>T	c.(109-111)ggC>ggT	p.G37G	LRRIQ3_ENST00000354431.4_Silent_p.G37G|LRRIQ3_ENST00000370911.3_Silent_p.G37G|LRRIQ3_ENST00000370909.2_Silent_p.G37G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3			73					ttaaatgaaggccattgaact	0.333000																								0							SO:0001819	synonymous_variant			ENST00000395089.1	1	1	hg19	CCDS41350.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	1	0	1	31	142	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	31	141	0	46	2								-18.876570	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.952646	0.960000	1	9.000000e-01	9.900000e-01
C1orf173	0	broad.mit.edu	37	1	75036989	75036989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75036989C>A	ENST00000326665.5	-	14	4623	c.4405G>T	c.(4405-4407)Gga>Tga	p.G1469*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN				184					TCAGCTGCTCCTGTCTCCTGC	0.582000																								0							SO:0001587	stop_gained			ENST00000326665.5	0	1	hg19	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	43	9.919568	0.99295	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.40158	D	0.977036	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.6351	10.9771	0.47472	0.0:0.9068:0.0:0.0932	.	.	.	.	X	1469	.	ENSP00000322609:G1469X	G	-	1	0	C1orf173	74809577	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	0.475000	0.22164	0.995000	0.38917	-0.254000	0.11334	GGA		TCGA-IB-7651-01A-11D-2154-08	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	1	0	1	150	646	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1	148	626	0	138	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991936	0.990000	1	9.700000e-01	1
C1orf173	0	broad.mit.edu	37	1	75037224	75037224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75037224C>A	ENST00000326665.5	-	14	4388	c.4170G>T	c.(4168-4170)caG>caT	p.Q1390H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN				184					CTAACTCATCCTGTTGGTGCC	0.517000																								0							SO:0001583	missense			ENST00000326665.5	1	1	hg19	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161345	0.21538	.	.	ENSG00000178965	ENST00000326665	T	0.12569	2.67	4.73	0.676	0.17958	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.28584	0.216	B	0.34385	0.181	T	0.45585	-0.9251	9	0.46703	T	0.11	-1.062	8.0007	0.30295	0.0:0.5457:0.0:0.4543	.	1390	Q5RHP9	CA173_HUMAN	H	1390	ENSP00000322609:Q1390H	ENSP00000322609:Q1390H	Q	-	3	2	C1orf173	74809812	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.087000	0.14958	0.081000	0.16988	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	0	0	1	117	540	1	134		0	0	0	1	134	2		0	0	0	0	0	2	1	1	116	530	1	132	17								-3.180453	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988287	0.980000	1	9.700000e-01	1
C1orf173	0	broad.mit.edu	37	1	75038471	75038471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75038471G>A	ENST00000326665.5	-	14	3141	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		p.L975I(1)		184					TCTCCCCCAAGAATTGCCTCT	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000326665.5	1	1	hg19	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669012	0.29604	.	.	ENSG00000178965	ENST00000326665	T	0.19394	2.15	4.65	-0.235	0.13071	.	.	.	.	.	T	0.04588	0.0125	L	0.40543	1.245	0.09310	N	1	B	0.21225	0.053	B	0.19391	0.025	T	0.41070	-0.9529	9	0.52906	T	0.07	0.2926	0.2928	0.00261	0.3139:0.229:0.2654:0.1916	.	975	Q5RHP9	CA173_HUMAN	F	975	ENSP00000322609:L975F	ENSP00000322609:L975F	L	-	1	0	C1orf173	74811059	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.235000	0.02928	0.064000	0.16427	-0.358000	0.07595	CTT		TCGA-IB-7651-01A-11D-2154-08	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	1	0	1	117	417	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	115	411	0	97	2								-4.208897	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990577	0.980000	1	9.700000e-01	1
C1orf173	0	broad.mit.edu	37	1	75078406	75078406	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75078406C>A	ENST00000326665.5	-	9	1306	c.1088G>T	c.(1087-1089)aGc>aTc	p.S363I	C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN				184					ACAACAGGAGCTTAACCTGTT	0.443000																								0							SO:0001583	missense			ENST00000326665.5	1	1	hg19	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114819	0.94339	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.61980	0.56;0.06	5.63	5.63	0.86233	.	.	.	.	.	T	0.78941	0.4363	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80400	-0.1398	9	0.87932	D	0	-16.7027	19.649	0.95793	0.0:1.0:0.0:0.0	.	166;363	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	I	363;166	ENSP00000322609:S363I;ENSP00000398581:S166I	ENSP00000322609:S363I	S	-	2	0	C1orf173	74850994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	2.808000	0.96608	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	1	0	1	38	221	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	1	37	215	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.951601	0.960000	1	9.000000e-01	9.900000e-01
TYW3	127253	broad.mit.edu	37	1	75204373	75204373	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75204373G>A	ENST00000370867.3	+	3	344		c.e3-1		TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_Splice_Site|TYW3_ENST00000421739.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)			15					CATTTATTTAGATTGTAGCTC	0.388000																								0							SO:0001630	splice_region_variant			ENST00000370867.3	1	1	hg19	CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073238	0.36566	.	.	ENSG00000162623	ENST00000370867	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYW3	74976961	1.000000	0.71417	0.983000	0.44433	0.060000	0.15804	5.848000	0.69458	2.937000	0.99478	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	1	0	1	26	133	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	9.999999e-01	26	130	0	34	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.780000	1.000000	0.990000	0.939758	0.950000	1	8.800000e-01	9.900000e-01
LHX8	431707	broad.mit.edu	37	1	75622644	75622644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75622644C>T	ENST00000294638.5	+	9	1541	c.877C>T	c.(877-879)Cca>Tca	p.P293S	LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8			30					ATCCTCCACCCCAGTCACAGC	0.512000																								0							SO:0001583	missense			ENST00000294638.5	1	1	hg19	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799984	0.50208	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87334	-2.24;-2.22	5.12	5.12	0.69794	.	0.049313	0.85682	D	0.000000	T	0.80914	0.4715	L	0.55481	1.735	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.77688	-0.2494	10	0.52906	T	0.07	.	18.9441	0.92615	0.0:1.0:0.0:0.0	.	293	Q68G74	LHX8_HUMAN	S	293;283	ENSP00000294638:P293S;ENSP00000348597:P283S	ENSP00000294638:P293S	P	+	1	0	LHX8	75395232	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.030000	0.76484	2.556000	0.86216	0.455000	0.32223	CCA		TCGA-IB-7651-01A-11D-2154-08	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	1	0	1	108	417	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	1	103	407	0	96	2								-3.114118	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988985	0.980000	1	9.700000e-01	1
SLC44A5	204962	broad.mit.edu	37	1	75683558	75683558	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683558A>G	ENST00000370855.5	-	18	1730	c.1617T>C	c.(1615-1617)cgT>cgC	p.R539R	SLC44A5_ENST00000535611.1_Silent_p.R409R|SLC44A5_ENST00000370859.3_Silent_p.R539R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5			61					TACGTTTAAGACGGTGGTCCA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000370855.5	1	1	hg19	CCDS667.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	1	0	1	24	141	0	50	1	6.210107e-02	2	1	0	50	2		0	0	0	0	0	2	1	9.999997e-01	23	136	0	50	2								-13.147450	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.750000	1.000000	0.990000	0.927547	0.940000	1	8.500000e-01	9.900000e-01
SLC44A5	204962	broad.mit.edu	37	1	75683626	75683626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683626C>T	ENST00000370855.5	-	18	1662	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	p.A517S(1)		61					GATCCAAATGCTAGGGATCCT	0.289000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370855.5	1	1	hg19	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341665	0.95783	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.30182	1.54;1.54;1.54	5.93	5.93	0.95920	.	0.105434	0.64402	D	0.000004	T	0.64940	0.2644	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.999;0.997;0.999	D;D;D;D;D	0.80764	0.993;0.994;0.993;0.974;0.99	T	0.73401	-0.3994	10	0.62326	D	0.03	-18.1034	20.3261	0.98701	0.0:1.0:0.0:0.0	.	511;556;517;517;556	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	517;556;517;387;510	ENSP00000359896:A517T;ENSP00000359892:A517T;ENSP00000443090:A387T	ENSP00000359892:A517T	A	-	1	0	SLC44A5	75456214	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	1	0	1	33	130	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	32	130	0	57	2								-19.974960	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.959511	0.960000	1	9.100000e-01	1
SLC44A5	204962	broad.mit.edu	37	1	75684943	75684943	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75684943T>C	ENST00000370855.5	-	16	1378	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	SLC44A5_ENST00000535611.1_Splice_Site_p.E292G|SLC44A5_ENST00000370859.3_Splice_Site_p.E422G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5			61					TGTACTTACCTCTGGGTCACA	0.413000																								0							SO:0001630	splice_region_variant			ENST00000370855.5	0	1	hg19	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532786	0.45073	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.15372	2.86;2.86;2.43	4.85	0.696	0.18075	.	0.429376	0.26373	N	0.024753	T	0.07369	0.0186	L	0.56769	1.78	0.43385	D	0.995495	B;B;B;B;B	0.23650	0.01;0.041;0.089;0.008;0.072	B;B;B;B;B	0.31547	0.048;0.081;0.125;0.028;0.132	T	0.09292	-1.0681	10	0.29301	T	0.29	-0.3	8.0219	0.30415	0.1248:0.0:0.2596:0.6156	.	416;461;422;422;461	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	G	422;461;422;292;415	ENSP00000359896:E422G;ENSP00000359892:E422G;ENSP00000443090:E292G	ENSP00000359892:E422G	E	-	2	0	SLC44A5	75457531	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.313000	0.43735	0.251000	0.21505	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	0	0	0	11	254	0	70	0	6.082342e-02	0	9	0	70	2		0	0	0	0	0	2	1	9.983631e-01	11	252	0	68	2								-12.987610	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.440000	0.230000	0.730000	0.430000	0.465768	0.440000	0	3.300000e-01	5.900000e-01
SLC44A5	204962	broad.mit.edu	37	1	75688057	75688057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75688057C>A	ENST00000370855.5	-	14	1187	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N|SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5			61					TGCTTCCTTCCTTCAGCAGGA	0.413000																								0							SO:0001583	missense			ENST00000370855.5	1	1	hg19	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.319973	0.60634	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.27557	1.66;1.66;1.66	5.06	4.14	0.48551	.	0.189164	0.56097	D	0.000037	T	0.41003	0.1140	M	0.85462	2.755	0.58432	D	0.99999	P;P;P;B;P	0.51351	0.767;0.944;0.767;0.338;0.883	P;P;P;B;P	0.56865	0.562;0.808;0.562;0.328;0.565	T	0.48151	-0.9060	10	0.66056	D	0.02	-5.5689	9.8266	0.40916	0.0:0.7842:0.1415:0.0743	.	352;397;358;358;397	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	N	358;397;358;228;351	ENSP00000359896:K358N;ENSP00000359892:K358N;ENSP00000443090:K228N	ENSP00000359892:K358N	K	-	3	2	SLC44A5	75460645	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.368000	0.34216	1.444000	0.47605	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	1	0	1	27	183	0	49	0	3.866387e-01	0	10	0	49	2		0	0	0	0	0	2	1	1	27	179	0	49	2								-2.808695	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.740000	1.000000	0.990000	0.923398	0.930000	1	8.500000e-01	9.900000e-01
SLC44A5	204962	broad.mit.edu	37	1	75704231	75704231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75704231G>A	ENST00000370855.5	-	10	736	c.623C>T	c.(622-624)aCa>aTa	p.T208I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5			61					AACACTTCTTGTCCCTCCATT	0.378000																								0							SO:0001583	missense			ENST00000370855.5	1	1	hg19	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435159	0.12045	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.14766	2.87;2.86;2.48	4.9	-1.86	0.07760	.	1.053510	0.07321	N	0.877559	T	0.02848	0.0085	L	0.39085	1.19	0.09310	N	1	B;B;B;B;B	0.16603	0.001;0.01;0.004;0.007;0.018	B;B;B;B;B	0.17979	0.003;0.005;0.003;0.02;0.012	T	0.46555	-0.9183	10	0.33141	T	0.24	0.6744	4.3939	0.11353	0.3631:0.0:0.3885:0.2484	.	202;247;208;208;247	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	I	208;247;208;78;201	ENSP00000359896:T208I;ENSP00000359892:T208I;ENSP00000443090:T78I	ENSP00000359892:T208I	T	-	2	0	SLC44A5	75476819	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.285000	0.08410	-0.293000	0.08986	-0.218000	0.12543	ACA		TCGA-IB-7651-01A-11D-2154-08	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	1	0	1	54	237	0	61	0	0	1	0	0	61	2		0	0	0	0	0	2	1	1	54	228	0	61	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.973473	0.970000	1	9.400000e-01	1
MSH4	4438	broad.mit.edu	37	1	76262729	76262729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76262729C>T	ENST00000263187.3	+	1	163	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4			47					TCCCCGTCGTCGGGAGAAACC	0.602000								Mismatch excision repair (MMR)																0							SO:0001583	missense			ENST00000263187.3	1	1	hg19	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293483	0.23564	.	.	ENSG00000057468	ENST00000263187	D	0.90261	-2.64	3.47	-0.0349	0.13894	.	5.525940	0.00481	N	0.000125	T	0.60157	0.2247	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60796	-0.7192	10	0.15499	T	0.54	-0.5266	4.8	0.13292	0.0:0.5245:0.2406:0.2349	.	20	O15457	MSH4_HUMAN	L	20	ENSP00000263187:S20L	ENSP00000263187:S20L	S	+	2	0	MSH4	76035317	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.061000	0.14366	-0.003000	0.14444	0.462000	0.41574	TCG		TCGA-IB-7651-01A-11D-2154-08	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	1	0	0	19	266	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	9.999906e-01	19	262	0	63	2								-19.998960	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.690000	0.440000	0.950000	0.700000	0.707374	0.690000	0	5.600000e-01	8.500000e-01
MSH4	4438	broad.mit.edu	37	1	76343977	76343977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76343977A>G	ENST00000263187.3	+	11	1618	c.1514A>G	c.(1513-1515)tAc>tGc	p.Y505C		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4			47					AGAAGAACATACACAGAGATT	0.363000								Mismatch excision repair (MMR)																0							SO:0001583	missense			ENST00000263187.3	1	1	hg19	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135364	0.77662	.	.	ENSG00000057468	ENST00000263187	D	0.89810	-2.57	5.49	5.49	0.81192	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.123368	0.56097	D	0.000025	D	0.94515	0.8234	M	0.88310	2.945	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.95277	0.8382	10	0.62326	D	0.03	-2.2644	15.5975	0.76599	1.0:0.0:0.0:0.0	.	505	O15457	MSH4_HUMAN	C	505	ENSP00000263187:Y505C	ENSP00000263187:Y505C	Y	+	2	0	MSH4	76116565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.905000	0.92613	2.082000	0.62665	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	1	0	1	36	249	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	36	248	0	54	2								-16.075150	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.937323	0.940000	1	8.700000e-01	9.900000e-01
ST6GALNAC3	256435	broad.mit.edu	37	1	76779638	76779638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76779638G>A	ENST00000328299.3	+	2	315	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3			36					ACATACAGGCGGCCCCTTCGA	0.443000																								0							SO:0001583	missense			ENST00000328299.3	1	1	hg19	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385694	0.25031	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30182	1.54	5.12	2.17	0.27698	.	0.456464	0.24298	N	0.039741	T	0.03136	0.0092	N	0.03115	-0.41	0.22521	N	0.99902	B;B	0.24368	0.102;0.009	B;B	0.17722	0.019;0.002	T	0.45512	-0.9256	10	0.13108	T	0.6	-44.1687	7.3081	0.26459	0.3809:0.0:0.6191:0.0	.	56;56	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	Q	56;56;55	ENSP00000329214:R56Q	ENSP00000329214:R56Q	R	+	2	0	ST6GALNAC3	76552226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.749000	0.38319	0.523000	0.28482	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	1	0	0	28	335	0	66	0	1.872480e-01	0	10	0	66	2		0	0	0	0	0	2	1	1	27	324	0	66	2								-2.841673	1	1	121404	7	39	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.790000	0.550000	0.980000	0.810000	0.795144	0.790000	0	6.700000e-01	9.200000e-01
CAMTA1	23261	broad.mit.edu	37	1	7700507	7700507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7700507G>T	ENST00000303635.7	+	7	765	c.558G>T	c.(556-558)gaG>gaT	p.E186D	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1			85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)			CGGCCATCGAGGACTGCGGCA	0.612000			T	WWTR1	epitheliod hemangioendothelioma										Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0							SO:0001583	missense			ENST00000303635.7	1	1	hg19	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242079	0.39598	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21361	2.02;2.01	5.36	3.25	0.37280	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.17082	0.46	0.53005	D	0.999968	P	0.45768	0.866	P	0.46510	0.519	T	0.06215	-1.0839	10	0.19147	T	0.46	-24.0721	10.9454	0.47297	0.2021:0.0:0.7979:0.0	.	186	Q9Y6Y1	CMTA1_HUMAN	D	186	ENSP00000306522:E186D;ENSP00000402561:E186D	ENSP00000306522:E186D	E	+	3	2	CAMTA1	7623094	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.992000	0.56980	1.257000	0.44085	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	0	37	451	0	107	0	0	0	1	0	107	2		0	0	0	0	0	2	1	1	36	440	0	105	2								-3.318793	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.790000	0.570000	0.980000	0.800000	0.796287	0.790000	0	6.800000e-01	9.100000e-01
CAMTA1	23261	broad.mit.edu	37	1	7724340	7724340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724340G>A	ENST00000303635.7	+	9	1940	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1			85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)			CTGAGTCCCAGCACCACCCTG	0.672000			T	WWTR1	epitheliod hemangioendothelioma										Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0							SO:0001583	missense			ENST00000303635.7	1	1	hg19	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.612615	0.66672	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.39406	1.08;1.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.53249	1.67	0.47245	D	0.999365	D	0.63880	0.993	D	0.70227	0.968	T	0.62845	-0.6768	10	0.62326	D	0.03	-20.1297	18.9116	0.92487	0.0:0.0:1.0:0.0	.	578	Q9Y6Y1	CMTA1_HUMAN	N	578	ENSP00000306522:S578N;ENSP00000402561:S578N	ENSP00000306522:S578N	S	+	2	0	CAMTA1	7646927	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.528000	0.73807	2.488000	0.83962	0.493000	0.49557	AGC		TCGA-IB-7651-01A-11D-2154-08	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	1	48	394	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	47	387	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.932565	0.940000	1	8.600000e-01	9.900000e-01
CAMTA1	23261	broad.mit.edu	37	1	7724600	7724600	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724600C>T	ENST00000303635.7	+	9	2200	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1			85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)			CGTGGAGACGCGGATCGAGTC	0.637000			T	WWTR1	epitheliod hemangioendothelioma										Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0							SO:0001583	missense			ENST00000303635.7	1	1	hg19	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.137842	0.37728	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21191	2.02;2.02	5.36	4.44	0.53790	.	0.634518	0.15611	N	0.253369	T	0.32376	0.0827	L	0.44542	1.39	0.35016	D	0.757345	D	0.69078	0.997	P	0.56434	0.798	T	0.44019	-0.9355	10	0.72032	D	0.01	-21.6128	12.6059	0.56523	0.4566:0.5434:0.0:0.0	.	665	Q9Y6Y1	CMTA1_HUMAN	W	665	ENSP00000306522:R665W;ENSP00000402561:R665W	ENSP00000306522:R665W	R	+	1	2	CAMTA1	7647187	0.004000	0.15560	0.799000	0.32177	0.742000	0.42306	0.064000	0.14437	1.253000	0.44018	0.498000	0.49722	CGG		TCGA-IB-7651-01A-11D-2154-08	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	0	72	814	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	1	71	804	0	162	2								-16.250830	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.850000	0.680000	0.990000	0.870000	0.854744	0.850000	1	7.600000e-01	9.400000e-01
CAMTA1	23261	broad.mit.edu	37	1	7737765	7737765	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7737765C>A	ENST00000303635.7	+	11	3093	c.2886C>A	c.(2884-2886)tcC>tcA	p.S962S	CAMTA1_ENST00000439411.2_Silent_p.S962S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1			85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)			CGCTCCCTTCCTCCCAGCACG	0.567000			T	WWTR1	epitheliod hemangioendothelioma										Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0							SO:0001819	synonymous_variant			ENST00000303635.7	1	1	hg19	CCDS30576.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	1	33	262	0	56	0	3.709856e-02	0	3	0	56	2		0	0	0	0	0	2	1	1	33	258	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.917475	0.920000	1	8.400000e-01	9.800000e-01
ZZZ3	26009	broad.mit.edu	37	1	78031830	78031830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78031830G>A	ENST00000370801.3	-	14	2978	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3			39					CAATGCCACCGAACACCCTGG	0.383000																								0							SO:0001583	missense			ENST00000370801.3	1	1	hg19	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102886	0.56183	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.96554	-4.05;-4.05	5.23	4.3	0.51218	Zinc finger, ZZ-type (4);	0.000000	0.64402	D	0.000001	D	0.98182	0.9399	M	0.92077	3.27	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;D;D	0.65987	0.809;0.94;0.917	D	0.99167	1.0863	10	0.87932	D	0	.	16.0294	0.80567	0.0:0.1346:0.8654:0.0	.	341;835;834	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	W	835;341	ENSP00000359837:R835W;ENSP00000359834:R341W	ENSP00000359834:R341W	R	-	1	2	ZZZ3	77804418	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.698000	0.84413	1.301000	0.44836	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	1	0	1	18	73	0	26	1	9.999497e-01	16	59	0	26	2		0	0	0	0	0	2	1	9.999892e-01	17	72	0	25	2								-3.462224	1	1	121412	2	15	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.740000	1.000000	0.990000	0.928345	0.940000	1	8.600000e-01	9.900000e-01
ZZZ3	26009	broad.mit.edu	37	1	78034018	78034018	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78034018T>G	ENST00000370801.3	-	13	2940	c.2465A>C	c.(2464-2466)aAg>aCg	p.K822T	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Splice_Site_p.K328T	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3			39					AGAACTTACCTTAAAGCCCAC	0.343000																								0							SO:0001630	splice_region_variant			ENST00000370801.3	1	0	hg19	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552257	0.86127	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.91407	-2.84;-2.84	5.46	5.46	0.80206	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.90263	0.6955	L	0.28740	0.885	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.984;0.999	D	0.90468	0.4451	10	0.38643	T	0.18	.	15.8471	0.78901	0.0:0.0:0.0:1.0	.	328;822;821	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	T	822;328	ENSP00000359837:K822T;ENSP00000359834:K328T	ENSP00000359834:K328T	K	-	2	0	ZZZ3	77806606	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.418000	0.80167	2.208000	0.71279	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	1	0	1	83	291	0	65	1	9.999911e-01	12	50	0	65	2		0	0	0	0	0	2	1	1	77	284	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.985910	0.980000	1	9.600000e-01	1
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78046696G>T	ENST00000370801.3	-	9	2442	c.1967C>A	c.(1966-1968)aCt>aAt	p.T656N	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3			39					TTCTTCAACAGTCCACAACTG	0.373000																								0							SO:0001583	missense			ENST00000370801.3	1	1	hg19	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250996	0.80135	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.62498	0.02;0.02	5.77	5.77	0.91146	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.106561	0.64402	D	0.000006	T	0.80864	0.4705	M	0.93106	3.38	0.80722	D	1	B;D;P	0.71674	0.447;0.998;0.934	B;D;P	0.69479	0.147;0.964;0.603	D	0.84252	0.0478	10	0.72032	D	0.01	.	15.4799	0.75517	0.0:0.1381:0.8619:0.0	.	162;656;655	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	656;162	ENSP00000359837:T656N;ENSP00000359834:T162N	ENSP00000359834:T162N	T	-	2	0	ZZZ3	77819284	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.208000	0.65203	2.902000	0.99343	0.650000	0.86243	ACT		TCGA-IB-7651-01A-11D-2154-08	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	0	0	0	42	534	1	122	1	7.758395e-01	8	64	1	122	4		0	0	0	0	0	2	1	9.998531e-01	42	523	1	122	16								-10.061030	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.770000	0.570000	0.960000	0.770000	0.776555	0.770000	0	6.600000e-01	8.800000e-01
ZZZ3	26009	broad.mit.edu	37	1	78097537	78097537	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78097537T>G	ENST00000370801.3	-	5	1978	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3			39					ACACATACTCTTTGTTGTGTT	0.348000																								0							SO:0001583	missense			ENST00000370801.3	1	1	hg19	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404934	0.42613	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.74023	0.982;0.82;0.913	T	0.72868	-0.4162	9	0.56958	D	0.05	.	15.755	0.78015	0.0:0.0:0.0:1.0	.	501;501;501	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	501	.	ENSP00000359837:K501N	K	-	3	2	ZZZ3	77870125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.266000	0.75297	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	1	0	1	59	215	0	77	1	9.995513e-01	8	37	0	77	2		0	0	0	0	0	2	1	1	56	211	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978779	0.980000	1	9.500000e-01	1
CAMTA1	23261	broad.mit.edu	37	1	7811265	7811265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7811265C>T	ENST00000303635.7	+	20	4903	c.4696C>T	c.(4696-4698)Ctt>Ttt	p.L1566F	CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1			85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)			GCAGTACGCACTTTATAAAAA	0.488000			T	WWTR1	epitheliod hemangioendothelioma										Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0							SO:0001583	missense			ENST00000303635.7	1	1	hg19	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789180	0.90367	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.72615	-0.67;-0.67;-0.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.70425	-0.4875	10	0.13853	T	0.58	-7.3596	19.7272	0.96168	0.0:1.0:0.0:0.0	.	609;529;1566	B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;CMTA1_HUMAN	F	1566;1552;609;529;130	ENSP00000306522:L1566F;ENSP00000402561:L1552F;ENSP00000452319:L130F	ENSP00000306522:L1566F	L	+	1	0	CAMTA1	7733852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	1	0	1	269	1183	0	349	1	3.831339e-01	4	3	0	349	2		0	0	0	0	0	2	1	1	264	1159	0	347	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.970000	1.000000	1.000000	0.996141	0.990000	1	9.800000e-01	1
USP33	23032	broad.mit.edu	37	1	78167123	78167123	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78167123C>A	ENST00000370793.1	-	23	2879	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	USP33_ENST00000370794.3_Missense_Mutation_p.A814S|USP33_ENST00000357428.1_Missense_Mutation_p.A845S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33			44					TAAAAAGTAGCTGGAGAGTCC	0.363000													Melanoma(152;72 1870 11110 26780 42647)											0							SO:0001583	missense			ENST00000370793.1	1	1	hg19	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	9.969	1.224830	0.22457	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.09163	3.02;3.01;3.01	4.94	0.829	0.18847	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.401148	0.26324	N	0.025032	T	0.00906	0.0030	N	0.03608	-0.345	0.38218	D	0.940662	B	0.14012	0.009	B	0.21360	0.034	T	0.45906	-0.9229	10	0.05351	T	0.99	.	5.2312	0.15422	0.2897:0.4901:0.0:0.2202	.	845	Q8TEY7	UBP33_HUMAN	S	814;845;845	ENSP00000359830:A814S;ENSP00000359829:A845S;ENSP00000350009:A845S	ENSP00000350009:A845S	A	-	1	0	USP33	77939711	0.983000	0.35010	0.995000	0.50966	0.987000	0.75469	1.599000	0.36751	-0.028000	0.13850	0.484000	0.47621	GCT		TCGA-IB-7651-01A-11D-2154-08	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	1	0	1	46	515	0	104	1	9.995390e-01	28	100	0	104	2		0	0	0	0	0	2	1	1	47	505	0	104	2								-12.128940	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.640000	0.990000	0.870000	0.844932	0.840000	0	7.400000e-01	9.400000e-01
USP33	23032	broad.mit.edu	37	1	78201795	78201795	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78201795C>T	ENST00000370793.1	-	7	839	c.493G>A	c.(493-495)Gta>Ata	p.V165I	USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000357428.1_Missense_Mutation_p.V165I|USP33_ENST00000370792.3_Missense_Mutation_p.V165I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33			44					TCATCAAATACGGCAACCAGA	0.343000													Melanoma(152;72 1870 11110 26780 42647)											0							SO:0001583	missense			ENST00000370793.1	1	1	hg19	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244701	0.59103	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.30714	2.91;2.91;2.91;2.9;1.52	5.17	5.17	0.71159	.	1.261780	0.05306	N	0.523893	T	0.16811	0.0404	L	0.55481	1.735	0.30780	N	0.742131	B;P	0.51351	0.121;0.944	B;B	0.36092	0.044;0.217	T	0.06991	-1.0796	10	0.38643	T	0.18	.	13.3687	0.60701	0.0:0.9237:0.0:0.0763	.	165;165	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	I	134;165;165;165;165	ENSP00000359830:V134I;ENSP00000359829:V165I;ENSP00000350009:V165I;ENSP00000359828:V165I;ENSP00000434441:V165I	ENSP00000350009:V165I	V	-	1	0	USP33	77974383	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.178000	0.58284	2.589000	0.87451	0.491000	0.48974	GTA		TCGA-IB-7651-01A-11D-2154-08	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	1	0	1	70	288	0	62	1	1	30	76	0	62	2		0	0	0	0	0	2	1	1	68	286	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980901	0.980000	1	9.500000e-01	1
NEXN	91624	broad.mit.edu	37	1	78383276	78383276	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78383276T>C	ENST00000334785.7	+	3	237	c.53T>C	c.(52-54)gTc>gCc	p.V18A	NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000294624.8_Missense_Mutation_p.V18A|NEXN_ENST00000330010.8_Intron	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)			30					TCTAAACCTGTCCCAAAAACC	0.338000																								0							SO:0001583	missense			ENST00000334785.7	1	1	hg19	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577398	0.65878	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.72505	-0.25;-0.66;-0.25;-0.55	5.51	5.51	0.81932	.	0.620166	0.13881	N	0.356346	T	0.56366	0.1980	L	0.54323	1.7	0.34155	D	0.668015	B	0.28971	0.229	B	0.25405	0.06	T	0.63686	-0.6581	10	0.87932	D	0	-0.3105	15.9178	0.79535	0.0:0.0:0.0:1.0	.	18	Q0ZGT2	NEXN_HUMAN	A	18	ENSP00000388048:V18A;ENSP00000294624:V18A;ENSP00000333938:V18A;ENSP00000411902:V18A	ENSP00000294624:V18A	V	+	2	0	NEXN	78155864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.525000	0.81892	2.216000	0.71823	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	1	0	1	47	149	0	44	0	9.016500e-01	0	15	0	44	2		0	0	0	0	0	2	1	1	47	144	0	44	2								-20.000000	1	1	120800	1	31	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.974850	0.970000	1	9.400000e-01	1
NEXN	91624	broad.mit.edu	37	1	78392549	78392549	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78392549G>A	ENST00000334785.7	+	8	1020	c.836G>A	c.(835-837)cGt>cAt	p.R279H	NEXN_ENST00000457030.1_Missense_Mutation_p.R265H|NEXN_ENST00000330010.8_Missense_Mutation_p.R215H	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)			30					GAAGAGAAGCGTGCTTTTGAA	0.348000																								0							SO:0001583	missense			ENST00000334785.7	1	1	hg19	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.15|16.15	3.042667|3.042667	0.55003|0.55003	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.68765|.	-0.31;-0.01;-0.11;-0.04;-0.35|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.50627|.	D|.	0.000105|.	T|T	0.74076|0.74076	0.3669|0.3669	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.68621|.	0.911;0.959;0.947;0.911|.	T|T	0.73341|0.73341	-0.4013|-0.4013	10|5	0.52906|.	T|.	0.07|.	-7.3584|-7.3584	19.6747|19.6747	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	215;265;279;215|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	H|M	215;265;215;279;265|179	ENSP00000383814:R215H;ENSP00000388048:R265H;ENSP00000327363:R215H;ENSP00000333938:R279H;ENSP00000411902:R265H|.	ENSP00000327363:R215H|.	R|V	+|+	2|1	0|0	NEXN|NEXN	78165137|78165137	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.491000|0.491000	0.33493|0.33493	4.816000|4.816000	0.62642|0.62642	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	CGT|GTG		TCGA-IB-7651-01A-11D-2154-08	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	1	0	1	49	357	0	65	0	9.999931e-01	1	127	0	65	2		0	0	0	0	0	2	1	1	47	356	0	65	2								-19.139480	1	1	120792	2	35	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.947165	0.950000	1	8.900000e-01	9.900000e-01
GIPC2	54810	broad.mit.edu	37	1	78546358	78546358	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78546358G>A	ENST00000370759.3	+	2	433		c.e2-1		GIPC2_ENST00000476882.1_Splice_Site	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2			20					TTTCTTTGCAGATCTTATATT	0.318000																								0							SO:0001630	splice_region_variant			ENST00000370759.3	1	1	hg19	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322948	0.81580	.	.	ENSG00000137960	ENST00000370759	.	.	.	6.02	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7102	0.69225	0.0687:0.0:0.9313:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIPC2	78318946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	1	0	0	34	387	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	34	385	0	87	2								-10.227460	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.820000	0.600000	0.990000	0.850000	0.825126	0.820000	0	7.100000e-01	9.400000e-01
GIPC2	54810	broad.mit.edu	37	1	78585184	78585184	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78585184G>A	ENST00000370759.3	+	4	907		c.e4+1			NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2			20					GGAAGAAATGGTATGTTATGT	0.398000																								0							SO:0001630	splice_region_variant			ENST00000370759.3	0	1	hg19	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645851	0.29246	.	.	ENSG00000137960	ENST00000370759	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.954	0.71098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIPC2	78357772	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	5.978000	0.70501	2.678000	0.91216	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	0	0	0	14	117	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	9.997997e-01	14	116	0	38	2								-19.988560	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.860000	0.570000	1.000000	0.990000	0.849571	0.860000	1	7.200000e-01	9.600000e-01
PER3	8863	broad.mit.edu	37	1	7863170	7863170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7863170G>A	ENST00000361923.2	+	8	1108	c.933G>A	c.(931-933)ctG>ctA	p.L311L	PER3_ENST00000377541.1_Silent_p.L311L|PER3_ENST00000377532.3_Silent_p.L312L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3			39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			TAAGCTACCTGCACCCTGAAG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000361923.2	1	1	hg19	CCDS89.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	1	0	1	33	261	0	87	1	9.693496e-01	2	45	0	87	2		0	0	0	0	0	2	1	1	30	256	0	87	2								-13.163450	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.930000	0.730000	1.000000	0.990000	0.917995	0.930000	1	8.400000e-01	9.800000e-01
PTGFR	5737	broad.mit.edu	37	1	79002130	79002130	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79002130C>A	ENST00000370757.3	+	3	1075	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)			33				Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AAATCATTCTCTGGAAACCTG	0.358000																								0							SO:0001583	missense			ENST00000370757.3	1	1	hg19	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663819	0.14710	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.73152	-0.72;-0.72	5.66	-0.169	0.13339	GPCR, rhodopsin-like superfamily (1);	1.923520	0.02399	N	0.080461	T	0.36220	0.0959	L	0.34521	1.04	0.09310	N	1	P	0.43938	0.822	B	0.37508	0.252	T	0.26503	-1.0101	10	0.46703	T	0.11	5.3371	4.3889	0.11330	0.4355:0.356:0.0867:0.1217	.	280	P43088	PF2R_HUMAN	M	280	ENSP00000359794:L280M;ENSP00000359793:L280M	ENSP00000359793:L280M	L	+	1	2	PTGFR	78774718	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	-0.129000	0.10515	0.057000	0.16193	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	1	0	0	36	415	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	36	400	0	111	2								-2.806910	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.820000	0.600000	0.990000	0.840000	0.821992	0.820000	0	7.000000e-01	9.300000e-01
IFI44L	10964	broad.mit.edu	37	1	79094664	79094664	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79094664G>T	ENST00000370751.5	+	3	686	c.507G>T	c.(505-507)aaG>aaT	p.K169N	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like			22					ACGACATAAAGAGGATAATTA	0.299000																								0							SO:0001583	missense			ENST00000370751.5	1	1	hg19	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	3.842	-0.033663	0.07543	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.15256	3.04;2.44	2.88	-1.53	0.08611	.	0.483713	0.17055	N	0.188776	T	0.03095	0.0091	N	0.25647	0.755	0.19300	N	0.99998	B	0.14805	0.011	B	0.15484	0.013	T	0.40887	-0.9539	10	0.39692	T	0.17	5.2127	6.8939	0.24245	0.1307:0.4212:0.4482:0.0	.	169	Q53G44	IF44L_HUMAN	N	169;146	ENSP00000359787:K169N;ENSP00000400784:K146N	ENSP00000359787:K169N	K	+	3	2	IFI44L	78867252	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.340000	0.07821	-0.322000	0.08615	-0.480000	0.04831	AAG		TCGA-IB-7651-01A-11D-2154-08	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	1	0	1	18	205	0	77	1	9.999701e-01	13	193	0	77	2		0	0	0	0	0	2	1	9.999842e-01	18	203	0	75	2								-3.017746	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.790000	0.510000	0.990000	0.840000	0.792037	0.790000	0	6.500000e-01	9.300000e-01
IFI44L	10964	broad.mit.edu	37	1	79102805	79102805	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79102805T>A	ENST00000370751.5	+	6	1144	c.965T>A	c.(964-966)gTc>gAc	p.V322D	IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like			22					GTGGCTTATGTCTTAGACATC	0.368000																								0							SO:0001583	missense			ENST00000370751.5	1	1	hg19	CCDS687.2	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808279	0.70797	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.56444	2.27;0.46	4.08	4.08	0.47627	.	0.000000	0.64402	D	0.000007	T	0.66674	0.2813	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.73244	-0.4044	10	0.87932	D	0	-11.108	11.2061	0.48771	0.0:0.0:0.0:1.0	.	322	Q53G44	IF44L_HUMAN	D	322;64	ENSP00000359787:V322D;ENSP00000342833:V64D	ENSP00000342833:V64D	V	+	2	0	IFI44L	78875393	0.998000	0.40836	0.417000	0.26559	0.861000	0.49209	3.583000	0.53928	1.790000	0.52503	0.377000	0.23210	GTC		TCGA-IB-7651-01A-11D-2154-08	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	1	0	1	114	375	0	100	1	1	148	245	0	100	2		0	0	0	0	0	2	1	1	111	366	0	100	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990764	0.980000	1	9.700000e-01	1
ELTD1	64123	broad.mit.edu	37	1	79356886	79356886	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79356886A>G	ENST00000370742.3	-	15	2089	c.2026T>C	c.(2026-2028)Tac>Cac	p.Y676H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1			69					AACAATCTGTAATATTCTTCT	0.264000																								0							SO:0001583	missense			ENST00000370742.3	1	1	hg19	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971281	0.34754	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.42131	0.98;0.98	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.36672	1.1	0.45852	D	0.998713	B	0.20164	0.042	B	0.26094	0.066	T	0.08472	-1.0720	9	.	.	.	.	9.2697	0.37664	0.919:0.0:0.081:0.0	.	676	Q9HBW9	ELTD1_HUMAN	H	676;134	ENSP00000359778:Y676H;ENSP00000383813:Y134H	.	Y	-	1	0	ELTD1	79129474	1.000000	0.71417	0.997000	0.53966	0.184000	0.23303	3.996000	0.57009	2.035000	0.60131	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	1	0	1	25	148	0	38	0	9.939687e-01	0	51	0	38	2		0	0	0	0	0	2	1	9.999999e-01	25	146	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.750000	1.000000	0.990000	0.929422	0.940000	1	8.600000e-01	9.900000e-01
ELTD1	64123	broad.mit.edu	37	1	79403918	79403918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79403918C>T	ENST00000370742.3	-	5	506	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1			69					CACAGAATTTCTATAGACTTC	0.318000																								0							SO:0001583	missense			ENST00000370742.3	1	1	hg19	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	7.090	0.571971	0.13623	.	.	ENSG00000162618	ENST00000370742	T	0.09163	3.01	5.86	0.105	0.14535	Domain of unknown function DUF3497 (1);	0.462533	0.27831	N	0.017662	T	0.02193	0.0068	L	0.31065	0.9	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46233	-0.9206	9	.	.	.	.	11.061	0.47946	0.0:0.5536:0.0:0.4464	.	148	Q9HBW9	ELTD1_HUMAN	K	148	ENSP00000359778:R148K	.	R	-	2	0	ELTD1	79176506	0.007000	0.16637	0.956000	0.39512	0.962000	0.63368	-0.065000	0.11617	0.102000	0.17638	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	1	0	1	20	148	0	34	0	9.974033e-01	0	74	0	34	2		0	0	0	0	0	2	1	9.999951e-01	20	141	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.670000	1.000000	0.990000	0.894551	0.910000	1	8.000000e-01	9.800000e-01
LPHN2	23266	broad.mit.edu	37	1	82409048	82409048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82409048G>A	ENST00000370728.1	+	8	1438	c.793G>A	c.(793-795)Gac>Aac	p.D265N	LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N			O95490	LPHN2_HUMAN	latrophilin 2	p.D265H(2)		119					GACTGATATCGACCTAGCAGT	0.408000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000370728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.7	4.324477	0.81580	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.964;0.988	D	0.97952	1.0332	10	0.87932	D	0	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	265;265;265	O95490-3;O95490-4;O95490-2	.;.;.	N	269;265;265;265;265;265;265;265;265;265;265;265;265;265	ENSP00000359756:D269N;ENSP00000359763:D265N;ENSP00000359765:D265N;ENSP00000359762:D265N;ENSP00000359760:D265N;ENSP00000359758:D265N;ENSP00000353006:D265N;ENSP00000359750:D265N;ENSP00000359748:D265N;ENSP00000322270:D265N;ENSP00000359752:D265N;ENSP00000378344:D265N;ENSP00000271029:D265N;ENSP00000337306:D265N	ENSP00000271029:D265N	D	+	1	0	LPHN2	82181636	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.476000	0.97823	2.591000	0.87537	0.455000	0.32223	GAC		TCGA-IB-7651-01A-11D-2154-08	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	1	0	1	99	380	0	101	1	1	40	83	0	101	2		0	0	0	0	0	2	1	1	98	378	0	101	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.987826	0.980000	1	9.600000e-01	1
LPHN2	23266	broad.mit.edu	37	1	82416758	82416758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82416758G>A	ENST00000370728.1	+	10	2194	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N			O95490	LPHN2_HUMAN	latrophilin 2			119					TAAGGGCCCCGATCTTAGCAA	0.423000																								0							SO:0001583	missense			ENST00000370728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.8	4.773127	0.90108	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.978;0.988	T	0.64257	-0.6450	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	517;517;517	O95490-3;O95490-4;O95490-2	.;.;.	N	455;517;517;517;517;517;517;517;517;517;517;517;517;517	ENSP00000359756:D455N;ENSP00000359763:D517N;ENSP00000359765:D517N;ENSP00000359762:D517N;ENSP00000359760:D517N;ENSP00000359758:D517N;ENSP00000353006:D517N;ENSP00000359750:D517N;ENSP00000359748:D517N;ENSP00000322270:D517N;ENSP00000359752:D517N;ENSP00000378344:D517N;ENSP00000271029:D517N;ENSP00000337306:D517N	ENSP00000271029:D517N	D	+	1	0	LPHN2	82189346	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	1	0	1	37	346	0	89	1	9.999300e-01	18	118	0	89	2		0	0	0	0	0	2	1	1	37	345	0	89	2								-3.221884	1	1	121412	3	35	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.690000	1.000000	0.990000	0.894483	0.900000	1	8.000000e-01	9.800000e-01
LPHN2	23266	broad.mit.edu	37	1	82435043	82435043	+	Missense_Mutation	SNP	T	T	C	rs150031756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82435043T>C	ENST00000370728.1	+	17	3338	c.2693T>C	c.(2692-2694)cTa>cCa	p.L898P	LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P|LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P			O95490	LPHN2_HUMAN	latrophilin 2	p.L898P(1)|p.L885P(1)		119					TTTATTTTCCTAATAGGCATT	0.368000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000370728.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328568|4.328568	0.81690|0.81690	0.0|0.0	1.16E-4|1.16E-4	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.60672|.	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|.	0.86585|.	0.5968|.	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.994;0.998|.	D|.	0.91704|.	0.5376|.	10|.	0.87932|.	D|.	0|.	.|.	14.8239|14.8239	0.70094|0.70094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	885;885;885|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	P|Q	823;898;898;898;898;885;885;885;885;885;898;885;898;898|766	ENSP00000359756:L823P;ENSP00000359763:L898P;ENSP00000359765:L898P;ENSP00000359762:L898P;ENSP00000359760:L898P;ENSP00000359758:L885P;ENSP00000353006:L885P;ENSP00000359750:L885P;ENSP00000359748:L885P;ENSP00000322270:L885P;ENSP00000359752:L898P;ENSP00000378344:L885P;ENSP00000271029:L898P;ENSP00000337306:L898P|.	ENSP00000271029:L898P|.	L|X	+|+	2|1	0|0	LPHN2|LPHN2	82207631|82207631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	1.904000|1.904000	0.55121|0.55121	0.477000|0.477000	0.44152|0.44152	CTA|TAA		TCGA-IB-7651-01A-11D-2154-08	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	1	0	1	45	395	0	80	1	9.999795e-01	17	124	0	80	2		0	0	0	0	0	2	1	1	45	390	0	80	2								-20.000000	1	1	121410	3	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.750000	1.000000	0.990000	0.918394	0.920000	1	8.400000e-01	9.800000e-01
LPHN2	23266	broad.mit.edu	37	1	82450958	82450958	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82450958A>G	ENST00000370728.1	+	23	4060	c.3415A>G	c.(3415-3417)Atg>Gtg	p.M1139V	LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V|LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V			O95490	LPHN2_HUMAN	latrophilin 2			119					TATAAGAAGAATGTGGAATGA	0.318000																								0							SO:0001583	missense			ENST00000370728.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.025844|4.025844	0.75390|0.75390	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71579|.	-0.54;-0.58;-0.48;-0.42;-0.52;-0.47;-0.44;-0.4;-0.44;-0.52;-0.47;-0.42;-0.48|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.087808|.	0.85682|.	D|.	0.000000|.	T|T	0.67702|0.67702	0.2921|0.2921	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.76494|.	0.993;0.999|.	D;D|.	0.81914|.	0.981;0.995|.	T|T	0.69914|0.69914	-0.5016|-0.5016	10|5	0.44086|.	T|.	0.13|.	.|.	15.0867|15.0867	0.72158|0.72158	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1126;1126|.	O95490-4;O95490-2|.	.;.|.	V|S	1064;1139;1139;1154;1154;1141;1126;1126;1126;1154;1141;1154;1139|144	ENSP00000359756:M1064V;ENSP00000359763:M1139V;ENSP00000359765:M1139V;ENSP00000359762:M1154V;ENSP00000359760:M1154V;ENSP00000359758:M1141V;ENSP00000353006:M1126V;ENSP00000359750:M1126V;ENSP00000322270:M1126V;ENSP00000359752:M1154V;ENSP00000378344:M1141V;ENSP00000271029:M1154V;ENSP00000337306:M1139V|.	ENSP00000271029:M1154V|.	M|N	+|+	1|2	0|0	LPHN2|LPHN2	82223546|82223546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.287000|9.287000	0.95975|0.95975	2.033000|2.033000	0.60031|0.60031	0.397000|0.397000	0.26171|0.26171	ATG|AAT		TCGA-IB-7651-01A-11D-2154-08	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	0	0	6	262	0	58	1	8.338371e-01	10	135	0	58	2		0	0	0	0	0	2	1	9.642253e-01	6	259	0	57	2								-7.374901	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.250000	0.100000	0.470000	0.230000	0.268949	0.250000	0	1.600000e-01	3.600000e-01
LPHN2	23266	broad.mit.edu	37	1	82452608	82452608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82452608A>G	ENST00000370728.1	+	24	4165	c.3520A>G	c.(3520-3522)Aca>Gca	p.T1174A	LPHN2_ENST00000370717.2_Missense_Mutation_p.T1189A|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.T1099A|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1189A|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370730.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2			119					TTACCTACTAACAAACCCTCT	0.373000																								0							SO:0001583	missense			ENST00000370728.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.67|14.67	2.604319|2.604319	0.46423|0.46423	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370725;ENST00000370723;ENST00000370717;ENST00000394879	.|T;T;T;T;T;T	.|0.71698	.|-0.58;-0.59;-0.56;-0.52;-0.56;-0.52	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77260|0.77260	0.4104|0.4104	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.80327|0.80327	-0.1429|-0.1429	4|7	.|0.62326	.|D	.|0.03	.|.	15.9173|15.9173	0.79531|0.79531	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	S|A	179|1099;1174;1189;1176;1189;1176	.|ENSP00000359756:T1099A;ENSP00000359763:T1174A;ENSP00000359760:T1189A;ENSP00000359758:T1176A;ENSP00000359752:T1189A;ENSP00000378344:T1176A	.|ENSP00000359752:T1189A	N|T	+|+	2|1	0|0	LPHN2|LPHN2	82225196|82225196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.962000|8.962000	0.93254|0.93254	2.161000|2.161000	0.67846|0.67846	0.533000|0.533000	0.62120|0.62120	AAC|ACA		TCGA-IB-7651-01A-11D-2154-08	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	0	1	30	285	0	73	1	9.253192e-01	27	17	0	73	2		0	0	0	0	0	2	1	1	30	272	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.890000	0.660000	1.000000	0.990000	0.878413	0.890000	1	7.700000e-01	9.700000e-01
SLC45A1	50651	broad.mit.edu	37	1	8390438	8390438	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390438G>A	ENST00000471889.1	+	5	1270	c.885G>A	c.(883-885)ccG>ccA	p.P295P	SLC45A1_ENST00000377479.2_Silent_p.P329P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.P295P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1			33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)			CGCTGCGGCCGCCGAGTGAGA	0.692000																								0							SO:0001819	synonymous_variant			ENST00000471889.1	1	1	hg19	CCDS30577.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5	0	0	0	10	252	0	54	0	1.028855e-01	1	12	0	54	2		0	0	0	0	0	2	1	9.965343e-01	10	245	0	52	2								-3.156795	1	1	121310	7	38	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.410000	0.210000	0.690000	0.400000	0.431747	0.410000	0	3.000000e-01	5.500000e-01
SLC45A1	50651	broad.mit.edu	37	1	8390791	8390791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390791G>A	ENST00000471889.1	+	5	1623	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1			33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)			GGCTTCTACCGCCAGGACCGT	0.687000																								0							SO:0001583	missense			ENST00000471889.1	1	1	hg19	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	7.956	0.745892	0.15710	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.17691	2.27;2.26;2.27	4.45	1.4	0.22301	.	1.298210	0.04555	N	0.390578	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	10	0.41790	T	0.15	-13.1605	7.6663	0.28432	0.421:0.0:0.579:0.0	.	413	Q9Y2W3	S45A1_HUMAN	H	413;447;413	ENSP00000418096:R413H;ENSP00000366699:R447H;ENSP00000289877:R413H	ENSP00000289877:R413H	R	+	2	0	SLC45A1	8313378	0.001000	0.12720	0.945000	0.38365	0.434000	0.31775	0.196000	0.17176	-0.000000	0.14550	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5	1	0	1	15	283	0	69	1	3.625002e-01	6	17	0	69	2		0	0	0	0	0	2	1	9.998629e-01	14	278	0	65	2								-16.813350	1	1	121404	16	42	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.530000	0.310000	0.810000	0.530000	0.554239	0.530000	0	4.100000e-01	6.800000e-01
RERE	473	broad.mit.edu	37	1	8418946	8418946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8418946G>A	ENST00000337907.3	-	21	4283	c.3649C>T	c.(3649-3651)Ctc>Ttc	p.L1217F	RERE_ENST00000400908.2_Missense_Mutation_p.L1217F|RERE_ENST00000476556.1_Missense_Mutation_p.L663F|RERE_ENST00000377464.1_Missense_Mutation_p.L949F|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats			49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			GGGTCACTGAGGCGACCTTCA	0.642000																								0							SO:0001583	missense			ENST00000337907.3	1	1	hg19	CCDS95.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	13.97	2.396681	0.42512	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.48201	0.82;0.82;0.82	5.46	5.46	0.80206	.	.	.	.	.	T	0.52224	0.1721	L	0.42245	1.32	0.53688	D	0.999977	D	0.76494	0.999	D	0.73708	0.981	T	0.46091	-0.9216	9	0.18276	T	0.48	-30.6131	18.6671	0.91495	0.0:0.0:1.0:0.0	.	1217	Q9P2R6	RERE_HUMAN	F	1217;949;663;1217	ENSP00000338629:L1217F;ENSP00000366684:L949F;ENSP00000383700:L1217F	ENSP00000338629:L1217F	L	-	1	0	RERE	8341533	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	6.584000	0.74057	2.713000	0.92767	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	0	0	0	50	534	0	121	1	9.977575e-01	9	90	0	121	2		0	0	0	0	0	2	1	1	47	525	0	121	2								-13.683080	1	1	121238	1	34	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.870000	0.670000	0.990000	0.910000	0.868595	0.870000	1	7.700000e-01	9.600000e-01
RERE	473	broad.mit.edu	37	1	8421825	8421825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8421825G>A	ENST00000337907.3	-	18	2648	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats			49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			AACCTCACCTGCGTTTTTGTC	0.562000																								0							SO:0001587	stop_gained			ENST00000337907.3	0	1	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	43	10.035055	0.99321	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-19.8783	18.2489	0.89996	0.0:0.0:1.0:0.0	.	.	.	.	X	672;404;118;672;92	.	ENSP00000338629:Q672X	Q	-	1	0	RERE	8344412	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.951000	0.87819	2.576000	0.86940	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	1	0	1	65	252	0	67	1	1	4	99	0	67	2		0	0	0	0	0	2	1	1	65	247	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980139	0.980000	1	9.500000e-01	1
RERE	473	broad.mit.edu	37	1	8424198	8424198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8424198G>A	ENST00000337907.3	-	16	2292	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	RERE_ENST00000400908.2_Missense_Mutation_p.P553L|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Missense_Mutation_p.P285L|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats			49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			GAACATAAACGGTGGCGGGTC	0.602000																								0							SO:0001583	missense			ENST00000337907.3	1	1	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444138	0.83993	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400908	T;T;T	0.50548	0.76;0.74;0.76	5.2	5.2	0.72013	.	.	.	.	.	T	0.63022	0.2476	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.64495	-0.6394	9	0.72032	D	0.01	-20.5155	17.9071	0.88921	0.0:0.0:1.0:0.0	.	285;553	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	553;285;553	ENSP00000338629:P553L;ENSP00000366684:P285L;ENSP00000383700:P553L	ENSP00000338629:P553L	P	-	2	0	RERE	8346785	1.000000	0.71417	0.967000	0.41034	0.226000	0.24999	9.212000	0.95126	2.711000	0.92665	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	1	0	0	42	423	0	90	1	9.993501e-01	8	104	0	90	2		0	0	0	0	0	2	1	9.995352e-01	25	414	1	88	17								-3.221883	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.880000	0.680000	1.000000	0.950000	0.881162	0.880000	1	7.800000e-01	9.700000e-01
TTLL7	79739	broad.mit.edu	37	1	84372050	84372050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84372050C>A	ENST00000260505.8	-	17	2466	c.2089G>T	c.(2089-2091)Gga>Tga	p.G697*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7			29					TCTGACTTTCCTGGAAACCGG	0.363000																								0							SO:0001587	stop_gained			ENST00000260505.8	0	1	hg19	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	44	10.637590	0.99442	.	.	ENSG00000137941	ENST00000260505;ENST00000370704	.	.	.	5.76	5.76	0.90799	.	0.437791	0.27068	N	0.021087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7465	0.91795	0.0:1.0:0.0:0.0	.	.	.	.	X	697;474	.	ENSP00000260505:G697X	G	-	1	0	TTLL7	84144638	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.731000	0.74785	2.724000	0.93272	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	0	0	0	16	506	0	78	0	1.514486e-02	0	6	0	78	2		0	0	0	0	0	2	1	9.999281e-01	16	500	0	78	2								-2.826342	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.330000	0.190000	0.500000	0.320000	0.342713	0.330000	0	2.500000e-01	4.200000e-01
TTLL7	79739	broad.mit.edu	37	1	84373275	84373275	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84373275C>T	ENST00000260505.8	-	16	2233	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7			29					AGAAAATGGGCGGGTGTCCCC	0.512000																								0							SO:0001583	missense			ENST00000260505.8	1	1	hg19	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012970	0.75161	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.05925	3.37	5.34	5.34	0.76211	.	0.242690	0.40302	N	0.001129	T	0.06462	0.0166	M	0.64997	1.995	0.58432	D	0.999994	D	0.58620	0.983	B	0.41988	0.372	T	0.14282	-1.0478	10	0.87932	D	0	.	18.6485	0.91421	0.0:1.0:0.0:0.0	.	619	Q6ZT98	TTLL7_HUMAN	H	619;396;619	ENSP00000260505:R619H	ENSP00000260505:R619H	R	-	2	0	TTLL7	84145863	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	5.540000	0.67205	2.499000	0.84300	0.460000	0.39030	CGC		TCGA-IB-7651-01A-11D-2154-08	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	1	0	1	30	155	0	49	0	8.340496e-01	1	18	0	49	2		0	0	0	0	0	2	1	1	30	150	0	48	2								-17.121530	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.946491	0.950000	1	8.900000e-01	9.900000e-01
SSX2IP	117178	broad.mit.edu	37	1	85124057	85124057	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85124057C>A	ENST00000342203.3	-	9	1285	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S314I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	p.S341N(1)		19					TTTTCTGATGCTGTTTGTAAG	0.413000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000342203.3	1	1	hg19	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194433	0.94960	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.55234	0.56;0.53	5.81	5.81	0.92471	.	0.035186	0.85682	D	0.000000	T	0.66386	0.2784	M	0.74258	2.255	0.80722	D	1	D;D;D	0.58268	0.982;0.97;0.97	P;P;P	0.59171	0.853;0.791;0.791	T	0.69101	-0.5234	10	0.87932	D	0	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	337;341;314	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	341;314;337;341	ENSP00000340279:S341I;ENSP00000412781:S314I	ENSP00000340279:S341I	S	-	2	0	SSX2IP	84896645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.746000	0.94184	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	1	0	1	28	224	0	52	1	9.924035e-01	5	59	0	52	2		0	0	0	0	0	2	1	1	27	221	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.700000	1.000000	0.990000	0.906594	0.920000	1	8.200000e-01	9.800000e-01
MCOLN2	255231	broad.mit.edu	37	1	85412808	85412808	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85412808A>C	ENST00000370608.3	-	7	822	c.755T>G	c.(754-756)tTt>tGt	p.F252C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2			18					TTTATTGTCAAAGATAATCTG	0.318000																								0							SO:0001583	missense			ENST00000370608.3	1	1	hg19	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210170	0.58343	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.87029	-2.2;-2.2	5.76	4.62	0.57501	.	0.149988	0.64402	D	0.000008	D	0.90235	0.6947	M	0.84326	2.69	0.58432	D	0.999997	D	0.71674	0.998	P	0.60789	0.879	D	0.91260	0.5036	10	0.87932	D	0	-25.6273	11.5912	0.50947	0.854:0.0:0.0:0.146	.	252	Q8IZK6	MCLN2_HUMAN	C	252;224	ENSP00000359640:F252C;ENSP00000284027:F224C	ENSP00000284027:F224C	F	-	2	0	MCOLN2	85185396	1.000000	0.71417	0.906000	0.35671	0.586000	0.36452	7.081000	0.76844	0.984000	0.38629	0.472000	0.43445	TTT		TCGA-IB-7651-01A-11D-2154-08	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	1	0	1	60	250	0	93	0	4.817046e-01	1	6	0	93	2		0	0	0	0	0	2	1	1	58	245	0	92	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977191	0.980000	1	9.400000e-01	1
MCOLN2	255231	broad.mit.edu	37	1	85431291	85431291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85431291G>A	ENST00000370608.3	-	2	245	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2			18					GGAATCTGGCGTCTGGCTCGG	0.413000																								0							SO:0001583	missense			ENST00000370608.3	1	1	hg19	CCDS30762.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.63	3.177947	0.57692	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.54279	0.58;0.58	5.87	2.85	0.33270	.	0.557733	0.21351	N	0.075975	T	0.31071	0.0785	L	0.47190	1.495	0.40235	D	0.977896	D	0.62365	0.991	B	0.43623	0.425	T	0.09509	-1.0671	10	0.62326	D	0.03	-28.1451	10.4417	0.44469	0.0598:0.1029:0.7311:0.1063	.	60	Q8IZK6	MCLN2_HUMAN	C	60;32	ENSP00000359640:R60C;ENSP00000284027:R32C	ENSP00000284027:R32C	R	-	1	0	MCOLN2	85203879	0.914000	0.31030	0.678000	0.29963	0.663000	0.39108	1.830000	0.39131	0.146000	0.19002	-0.797000	0.03246	CGC		TCGA-IB-7651-01A-11D-2154-08	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	1	0	0	24	244	0	60	0	2.014358e-01	1	8	0	60	2		0	0	0	0	0	2	1	9.999997e-01	24	241	0	60	2								-9.418932	1	1	121406	3	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.850000	0.600000	0.990000	0.930000	0.846399	0.850000	1	7.300000e-01	9.600000e-01
MCOLN3	55283	broad.mit.edu	37	1	85487850	85487850	+	Missense_Mutation	SNP	G	G	A	rs141743037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85487850G>A	ENST00000370589.2	-	11	1275	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3			34					ATTGGGCAGCGCTGCCTGAAG	0.468000																								0							SO:0001583	missense			ENST00000370589.2	1	1	hg19	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503460	0.85176	0.0	2.33E-4	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.77098	-1.07;-1.07	5.52	5.52	0.82312	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.88511	0.6456	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.958;0.982	D	0.88817	0.3296	10	0.52906	T	0.07	-20.4113	19.4397	0.94813	0.0:0.0:1.0:0.0	.	352;408	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	V	408;408;352;352	ENSP00000359621:A408V;ENSP00000342698:A352V	ENSP00000304843:A408V	A	-	2	0	MCOLN3	85260438	1.000000	0.71417	0.933000	0.37362	0.497000	0.33675	9.415000	0.97375	2.578000	0.87016	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	1	0	1	36	259	0	77	1	2.617199e-01	2	6	0	77	2		0	0	0	0	0	2	1	1	34	253	0	76	2								-6.818198	1	1	121412	15	45	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.770000	1.000000	0.990000	0.933687	0.940000	1	8.700000e-01	9.900000e-01
MCOLN3	55283	broad.mit.edu	37	1	85491722	85491722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85491722G>A	ENST00000370589.2	-	9	1047	c.995C>T	c.(994-996)tCt>tTt	p.S332F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F|MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000474447.1_5'Flank	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3			34					CATTTGATCAGAAACAGAAAC	0.338000																								0							SO:0001583	missense			ENST00000370589.2	0	1	hg19	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719362	0.68844	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.76968	-1.06;-1.06	6.16	5.2	0.72013	.	0.265839	0.43919	D	0.000507	T	0.81805	0.4900	M	0.74881	2.28	0.39379	D	0.966227	P;P;D	0.53462	0.865;0.95;0.96	P;P;P	0.60609	0.77;0.877;0.815	T	0.81854	-0.0741	10	0.49607	T	0.09	-4.9798	11.3141	0.49381	0.0:0.1078:0.6668:0.2254	.	332;276;332	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	F	332;332;276;276	ENSP00000359621:S332F;ENSP00000342698:S276F	ENSP00000304843:S332F	S	-	2	0	MCOLN3	85264310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.292000	0.59031	2.937000	0.99478	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	0	0	0	10	66	0	33	1	4.631795e-01	6	5	0	33	2		0	0	0	0	0	2	1	9.975322e-01	10	66	0	33	2								-8.039214	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.870000	0.550000	1.000000	0.990000	0.851034	0.870000	1	7.200000e-01	9.700000e-01
WDR63	126820	broad.mit.edu	37	1	85570251	85570251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85570251C>T	ENST00000294664.6	+	14	1704	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	WDR63_ENST00000326813.8_Silent_p.C469C|WDR63_ENST00000370596.1_Silent_p.C469C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63			36					GTGGAATATGCTGTCAACTTG	0.328000																								0							SO:0001819	synonymous_variant			ENST00000294664.6	1	1	hg19	CCDS702.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	1	0	1	39	162	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	39	160	0	30	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.964489	0.970000	1	9.200000e-01	1
SYDE2	84144	broad.mit.edu	37	1	85647833	85647833	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85647833A>G	ENST00000341460.5	-	3	2541	c.2492T>C	c.(2491-2493)gTg>gCg	p.V831A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)			20					CAGAAGGGGCACCATCAGTCC	0.333000																								0							SO:0001583	missense			ENST00000341460.5	0	1	hg19	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882579	0.72294	.	.	ENSG00000097096	ENST00000341460	T	0.50548	0.74	5.85	5.85	0.93711	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.978;0.997	T	0.71646	-0.4530	10	0.87932	D	0	.	16.2343	0.82363	1.0:0.0:0.0:0.0	.	831;831	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	A	831	ENSP00000340594:V831A	ENSP00000340594:V831A	V	-	2	0	SYDE2	85420421	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2	1	0	1	6	56	0	13	0	2.199490e-01	1	7	0	13	2		0	0	0	0	0	2	1	9.658257e-01	6	55	0	13	2								-5.435222	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.770000	0.380000	0.990000	0.930000	0.753374	0.770000	0	5.600000e-01	9.300000e-01
C1orf52	148423	broad.mit.edu	37	1	85724406	85724406	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85724406C>T	ENST00000471115.1	-	2	285		c.e2-1		C1orf52_ENST00000294661.4_Splice_Site|C1orf52_ENST00000344356.5_Splice_Site	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52			10					CCTTTGGAGGCTGTTAAGCAA	0.498000																								0							SO:0001630	splice_region_variant			ENST00000471115.1	0	1	hg19	CCDS703.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122420	0.77436	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.936	0.89012	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf52	85496994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.877000	0.75562	2.532000	0.85374	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	0	0	0	6	102	0	18	1	9.333015e-02	7	1	0	18	2		0	0	0	0	0	2	1	9.632853e-01	6	99	0	17	2								-10.219120	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.570000	0.250000	0.940000	0.550000	0.593808	0.570000	0	3.900000e-01	7.900000e-01
DDAH1	23576	broad.mit.edu	37	1	85930637	85930637	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85930637C>A	ENST00000284031.8	-	1	186	c.92G>T	c.(91-93)aGa>aTa	p.R31I	DDAH1_ENST00000539042.1_Missense_Mutation_p.R31I|DDAH1_ENST00000426972.3_5'Flank|RP11-131L23.2_ENST00000610230.1_lincRNA|DDAH1_ENST00000483110.1_Intron|DDAH1_ENST00000535924.2_Intron	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1			5				L-Citrulline(DB00155)	CTTGGCGCTTCTCAGCGCGTG	0.751000																								0							SO:0001583	missense			ENST00000284031.8	0	1	hg19	CCDS705.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410933	0.42817	.	.	ENSG00000153904	ENST00000284031;ENST00000539042	.	.	.	4.52	4.52	0.55395	.	0.048785	0.52532	D	0.000069	T	0.68348	0.2991	M	0.81497	2.545	0.80722	D	1	D	0.55605	0.972	P	0.53861	0.736	T	0.70594	-0.4829	9	0.38643	T	0.18	-9.9586	17.2126	0.86935	0.0:1.0:0.0:0.0	.	31	O94760	DDAH1_HUMAN	I	31	.	ENSP00000284031:R31I	R	-	2	0	DDAH1	85703225	0.944000	0.32072	0.481000	0.27354	0.003000	0.03518	6.518000	0.73764	2.246000	0.74042	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1	0	0	0	4	32	0	8	0	2.024291e-02	0	2	0	8	2		0	0	0	0	0	2	1	8.941607e-01	4	32	0	8	2								-10.313270	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.750000	0.320000	0.990000	0.990000	0.734788	0.750000	0	5.300000e-01	9.300000e-01
CYR61	3491	broad.mit.edu	37	1	86047131	86047131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047131C>T	ENST00000451137.2	+	2	371	c.147C>T	c.(145-147)ggC>ggT	p.G49G	CYR61_ENST00000480413.1_3'UTR|RP11-290M5.4_ENST00000609367.1_lincRNA	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61			5					TCCGGGACGGCTGCGGCTGCT	0.687000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000451137.2	0	1	hg19	CCDS706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	0	0	1	7	82	0	13	1	9.989326e-01	21	148	0	13	2		0	0	0	0	0	2	1	9.820546e-01	7	82	0	13	2								-12.462940	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.720000	0.350000	0.980000	0.780000	0.718784	0.720000	0	5.200000e-01	9.000000e-01
CYR61	3491	broad.mit.edu	37	1	86047630	86047630	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047630C>A	ENST00000451137.2	+	3	521	c.297C>A	c.(295-297)ccC>ccA	p.P99P	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61			5					AGGGCAGACCCTGTGAATATA	0.453000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000451137.2	1	1	hg19	CCDS706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	0	0	0	20	759	0	150	1	9.978135e-01	5	361	0	150	2		0	0	0	0	0	2	1	9.999940e-01	20	743	0	150	2								-2.063464	0	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.270000	0.170000	0.410000	0.270000	0.285820	0.270000	0	2.100000e-01	3.400000e-01
ZNHIT6	54680	broad.mit.edu	37	1	86167924	86167924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86167924C>T	ENST00000370574.3	-	5	1068	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R273H			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6			17					CCTCCGGGCACGATTTTTCAT	0.294000																								0							SO:0001583	missense			ENST00000370574.3	0	1	hg19	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793802	0.90453	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.48201	0.86;0.82	5.37	5.37	0.77165	.	0.192613	0.44483	D	0.000459	T	0.57946	0.2088	L	0.60455	1.87	0.45607	D	0.998545	D;D	0.76494	0.999;0.999	P;P	0.62184	0.793;0.899	T	0.59894	-0.7368	10	0.66056	D	0.02	-12.6765	19.0665	0.93113	0.0:1.0:0.0:0.0	.	273;312	B4DP13;Q9NWK9	.;BCD1_HUMAN	H	273;312	ENSP00000414344:R273H;ENSP00000359606:R312H	ENSP00000359606:R312H	R	-	2	0	ZNHIT6	85940512	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.660000	0.54496	2.666000	0.90696	0.555000	0.69702	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	0	0	0	16	162	1	43	0	1.605007e-01	7	47	1	43	8		0	0	0	0	0	2	0	3.945652e-01	15	159	1	43	18								-7.629560	1	0	121398	3	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.830000	0.540000	0.990000	0.920000	0.819921	0.830000	0	6.800000e-01	9.500000e-01
COL24A1	255631	broad.mit.edu	37	1	86590924	86590924	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590924C>A	ENST00000370571.2	-	3	1461	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1			101					AGCTAAATTTCTCTTTGGTAT	0.398000																								0							SO:0001583	missense			ENST00000370571.2	1	1	hg19	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	0.738	-0.777566	0.02929	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.45	1.25	0.21368	.	0.372941	0.19618	N	0.109968	T	0.68339	0.2990	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.58912	-0.7552	10	0.13108	T	0.6	.	2.3708	0.04330	0.2633:0.4555:0.1282:0.153	.	365;365	F8WDM8;Q17RW2	.;COOA1_HUMAN	D	365	ENSP00000359603:E365D;ENSP00000392531:E365D	ENSP00000359603:E365D	E	-	3	2	COL24A1	86363512	0.001000	0.12720	0.152000	0.22495	0.217000	0.24651	0.072000	0.14617	-0.020000	0.14032	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	0	31	332	0	82	0	0	0	1	0	82	2		0	0	0	0	0	2	1	1	31	325	0	82	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.850000	0.610000	0.990000	0.900000	0.844646	0.850000	1	7.300000e-01	9.500000e-01
COL24A1	255631	broad.mit.edu	37	1	86590991	86590991	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590991G>A	ENST00000370571.2	-	3	1394	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1			101					ATTTGTCTGAGTATCTTCCTC	0.413000																								0							SO:0001583	missense			ENST00000370571.2	1	1	hg19	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413974	0.01145	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94417	-3.42;-3.42	4.84	-2.47	0.06442	.	1.259990	0.05942	N	0.637237	T	0.73644	0.3613	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.66610	-0.5880	10	0.19590	T	0.45	.	6.7819	0.23650	0.3372:0.2986:0.3642:0.0	.	343;343	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	343	ENSP00000359603:T343I;ENSP00000392531:T343I	ENSP00000359603:T343I	T	-	2	0	COL24A1	86363579	0.000000	0.05858	0.003000	0.11579	0.123000	0.20343	-1.017000	0.03630	-0.139000	0.11414	0.563000	0.77884	ACT		TCGA-IB-7651-01A-11D-2154-08	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	1	92	297	0	77	0	1.435330e-01	0	3	0	77	2		0	0	0	0	0	2	1	1	91	294	0	77	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988130	0.980000	1	9.700000e-01	1
COL24A1	255631	broad.mit.edu	37	1	86591325	86591325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86591325C>T	ENST00000370571.2	-	3	1060	c.694G>A	c.(694-696)Gca>Aca	p.A232T	COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1			101					CAGTAGTCTGCAGATGCTTCT	0.363000																								0							SO:0001583	missense			ENST00000370571.2	1	1	hg19	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963121	0.34659	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02177	4.41;4.41	5.82	1.28	0.21552	Concanavalin A-like lectin/glucanase (1);	0.451445	0.16444	N	0.214147	T	0.00695	0.0023	L	0.39147	1.195	0.36043	D	0.840222	P;B	0.43287	0.802;0.068	B;B	0.36959	0.237;0.022	T	0.64516	-0.6389	10	0.27785	T	0.31	.	4.8693	0.13624	0.4501:0.3586:0.1216:0.0697	.	232;232	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	232	ENSP00000359603:A232T;ENSP00000392531:A232T	ENSP00000359603:A232T	A	-	1	0	COL24A1	86363913	0.995000	0.38212	0.984000	0.44739	0.694000	0.40290	0.403000	0.20982	-0.042000	0.13535	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	1	63	211	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1	61	206	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981209	0.980000	1	9.500000e-01	1
CLCA2	9635	broad.mit.edu	37	1	86905863	86905863	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86905863C>T	ENST00000370565.4	+	8	1398	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2			42		Lung NSC(277;0.238)			AAGCTTATGGCTCTGTGATGA	0.408000													Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											0							SO:0001819	synonymous_variant			ENST00000370565.4	1	1	hg19	CCDS708.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	0	0	0	17	675	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	9.999578e-01	17	660	0	138	2								-2.834114	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.260000	0.150000	0.400000	0.260000	0.275261	0.260000	0	2.000000e-01	3.400000e-01
CLCA2	9635	broad.mit.edu	37	1	86909588	86909588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86909588C>A	ENST00000370565.4	+	10	1769	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2			42		Lung NSC(277;0.238)			AGTGGTCCTCCTGAGATTATA	0.393000													Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											0							SO:0001583	missense			ENST00000370565.4	1	1	hg19	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922572	0.52653	.	.	ENSG00000137975	ENST00000370565	T	0.61742	0.08	5.66	4.74	0.60224	Domain of unknown function DUF1973 (1);	0.060811	0.64402	D	0.000003	T	0.71492	0.3346	M	0.86805	2.84	0.42859	D	0.994109	D	0.89917	1.0	D	0.77557	0.99	T	0.73924	-0.3829	10	0.29301	T	0.29	-10.2944	15.6306	0.76906	0.1386:0.8614:0.0:0.0	.	536	Q9UQC9	CLCA2_HUMAN	H	536	ENSP00000359596:P536H	ENSP00000359596:P536H	P	+	2	0	CLCA2	86682176	1.000000	0.71417	0.961000	0.40146	0.265000	0.26407	3.317000	0.51968	1.382000	0.46385	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	1	0	1	126	400	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	126	389	1	110	16								-4.839967	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992028	0.990000	1	9.700000e-01	1
CLCA1	1179	broad.mit.edu	37	1	86934771	86934771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86934771C>T	ENST00000234701.3	+	2	468	c.117C>T	c.(115-117)atC>atT	p.I39I	CLCA1_ENST00000394711.1_Silent_p.I39I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1			38		Lung NSC(277;0.239)			TCGTTGCAATCGACCCCAATG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000234701.3	1	1	hg19	CCDS709.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	1	0	1	66	231	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	66	227	0	64	2								-4.021166	1	1	121412	2	32	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981705	0.980000	1	9.500000e-01	1
CLCA1	1179	broad.mit.edu	37	1	86948009	86948009	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86948009C>A	ENST00000234701.3	+	6	1030	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1			38		Lung NSC(277;0.239)			TGAGTTTGTTCTCCAATCCCG	0.413000																								0							SO:0001583	missense			ENST00000234701.3	1	1	hg19	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728078	0.48833	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.11604	2.76;2.76	5.49	5.49	0.81192	Chloride channel calcium-activated (1);	0.129596	0.52532	D	0.000080	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	0.999993	B	0.09022	0.002	B	0.10450	0.005	T	0.21827	-1.0234	10	0.54805	T	0.06	-5.6807	18.5051	0.90894	0.0:1.0:0.0:0.0	.	227	A8K7I4	CLCA1_HUMAN	I	227	ENSP00000234701:L227I;ENSP00000378200:L227I	ENSP00000234701:L227I	L	+	1	0	CLCA1	86720597	0.483000	0.25956	0.022000	0.16811	0.002000	0.02628	4.384000	0.59607	2.746000	0.94184	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	1	0	1	40	251	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	40	248	0	53	2								-3.077172	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.810000	1.000000	0.990000	0.949518	0.950000	1	8.900000e-01	9.900000e-01
CLCA4	22802	broad.mit.edu	37	1	87025637	87025637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87025637C>T	ENST00000370563.3	+	2	224	c.182C>T	c.(181-183)aCg>aTg	p.T61M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	p.T61M(1)		44		Lung NSC(277;0.238)			ACAGCTTCTACGTACCTGTTT	0.343000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370563.3	1	1	hg19	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303901	0.40795	.	.	ENSG00000016602	ENST00000370563	T	0.12465	2.68	5.82	2.79	0.32731	Chloride channel calcium-activated (1);	0.957600	0.08747	N	0.899695	T	0.10380	0.0254	M	0.72894	2.215	0.18873	N	0.999986	P	0.42483	0.781	P	0.48571	0.582	T	0.30357	-0.9981	10	0.33940	T	0.23	-4.8939	6.2731	0.20965	0.2637:0.5996:0.0:0.1366	.	61	Q14CN2	CLCA4_HUMAN	M	61	ENSP00000359594:T61M	ENSP00000359594:T61M	T	+	2	0	CLCA4	86798225	0.000000	0.05858	0.161000	0.22692	0.786000	0.44442	0.637000	0.24659	0.768000	0.33290	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	1	0	1	64	544	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	63	535	0	152	2								-19.715680	1	1	120792	1	35	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.800000	1.000000	0.990000	0.940433	0.940000	1	8.800000e-01	9.900000e-01
CLCA4	22802	broad.mit.edu	37	1	87033243	87033243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87033243G>T	ENST00000370563.3	+	7	1133	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4			44		Lung NSC(277;0.238)			CAAATAAAAAGCAGTGATGAA	0.398000																								0							SO:0001583	missense			ENST00000370563.3	1	1	hg19	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741101	0.49151	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.70045	-0.45;-0.45	5.98	2.75	0.32379	von Willebrand factor, type A (3);	0.414937	0.29508	N	0.011949	T	0.70254	0.3203	M	0.87758	2.905	0.09310	N	1	D	0.53885	0.963	D	0.65573	0.936	T	0.63332	-0.6661	10	0.87932	D	0	-7.571	4.875	0.13651	0.161:0.1236:0.6015:0.1139	.	364	Q14CN2	CLCA4_HUMAN	I	364;77	ENSP00000359594:S364I;ENSP00000263723:S77I	ENSP00000263723:S77I	S	+	2	0	CLCA4	86805831	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	1.142000	0.31540	0.785000	0.33685	-0.345000	0.07892	AGC		TCGA-IB-7651-01A-11D-2154-08	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	0	0	1	28	249	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	26	244	0	54	2								-11.278500	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.670000	1.000000	0.990000	0.888675	0.900000	1	7.900000e-01	9.800000e-01
RERE	473	broad.mit.edu	37	1	8716278	8716278	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8716278C>A	ENST00000337907.3	-	3	713	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	RERE_ENST00000400908.2_Missense_Mutation_p.D27Y|RERE_ENST00000400907.2_Missense_Mutation_p.D27Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats			49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			CTTGCTTTGTCTCTTTTCtct	0.507000																								0							SO:0001583	missense			ENST00000337907.3	0	1	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536675	0.65085	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.51325	0.71;0.71	5.45	5.45	0.79879	.	.	.	.	.	T	0.49253	0.1546	N	0.19112	0.55	0.58432	D	0.999997	D	0.55385	0.971	P	0.54401	0.751	T	0.54794	-0.8240	9	0.87932	D	0	-16.1566	17.8703	0.88808	0.0:1.0:0.0:0.0	.	27	Q9P2R6	RERE_HUMAN	Y	27	ENSP00000338629:D27Y;ENSP00000383700:D27Y	ENSP00000338629:D27Y	D	-	1	0	RERE	8638865	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.240000	0.78192	2.553000	0.86117	0.557000	0.71058	GAC		TCGA-IB-7651-01A-11D-2154-08	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	0	0	0	21	1218	0	187	0	1.782305e-01	1	42	0	187	2		0	0	0	0	0	2	1	9.999955e-01	20	1159	0	199	2								-3.018858	1	1	121412	1	35	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.180000	0.110000	0.270000	0.180000	0.189324	0.180000	0	1.400000e-01	2.300000e-01
SH3GLB1	51100	broad.mit.edu	37	1	87185243	87185243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87185243C>T	ENST00000370558.4	+	3	592	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C|SH3GLB1_ENST00000535010.1_5'UTR	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1			11		Lung NSC(277;0.209)			AGCTCCAAGTCGTATAAACAA	0.358000																								0							SO:0001583	missense			ENST00000370558.4	1	1	hg19	CCDS710.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165477	0.94768	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.32272	1.46	5.95	5.95	0.96441	BAR (3);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67968	-0.5533	10	0.87932	D	0	-0.4584	20.3748	0.98911	0.0:1.0:0.0:0.0	.	90;90	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	C	90	ENSP00000418744:R90C	ENSP00000212369:R90C	R	+	1	0	SH3GLB1	86957831	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	1	0	0	17	294	0	52	1	9.999979e-01	26	390	0	52	2		0	0	0	0	0	2	1	9.999608e-01	17	286	0	51	2								-3.076183	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.580000	0.350000	0.860000	0.570000	0.597433	0.580000	0	4.500000e-01	7.300000e-01
SEP15	0	broad.mit.edu	37	1	87329266	87329266	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87329266A>C	ENST00000331835.5	-	5	642	c.380T>G	c.(379-381)gTa>gGa	p.V127G	SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000370554.1_Missense_Mutation_p.C110W|SEP15_ENST00000401030.3_Missense_Mutation_p.Y141D	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN						Lung NSC(277;0.153)			AAGCTTTAATACAGGGTCTGA	0.403000																								0							SO:0001583	missense			ENST00000331835.5	1	0	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.27|18.27|18.27	3.585955|3.585955|3.585955	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000183291|ENSG00000183291|ENSG00000183291	ENST00000370554|ENST00000331835|ENST00000401030	.|.|.	.|.|.	.|.|.	5.68|5.68|5.68	5.68|5.68|5.68	0.88126|0.88126|0.88126	.|Thioredoxin-like fold (1);|.	.|0.272182|.	.|0.30809|.	.|N|.	.|0.008825|.	T|T|T	0.54431|0.54431|0.54431	0.1858|0.1858|0.1858	.|.|.	.|.|.	.|.|.	0.30850|0.30850|0.30850	N|N|N	0.734679|0.734679|0.734679	D|P|.	0.53885|0.49783|.	0.963|0.928|.	B|P|.	0.43950|0.51918|.	0.437|0.684|.	T|T|T	0.59306|0.59306|0.59306	-0.7479|-0.7479|-0.7479	7|8|5	0.87932|0.52906|0.87932	D|T|D	0|0.07|0	-23.4263|-23.4263|-23.4263	16.2107|16.2107|16.2107	0.82151|0.82151|0.82151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	110|127|.	O60613-2|O60613|.	.|SEP15_HUMAN|.	W|G|D	110|127|141	.|.|.	ENSP00000359585:C110W|ENSP00000328729:V127G|ENSP00000383810:Y141D	C|V|Y	-|-|-	3|2|1	2|0|0	RP4-604K5.1|RP4-604K5.1|RP4-604K5.1	87101854|87101854|87101854	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.933000|0.933000|0.933000	0.37362|0.37362|0.37362	0.506000|0.506000|0.506000	0.33950|0.33950|0.33950	9.287000|9.287000|9.287000	0.95975|0.95975|0.95975	2.293000|2.293000|2.293000	0.77203|0.77203|0.77203	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	TGT|GTA|TAT		TCGA-IB-7651-01A-11D-2154-08	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1	0	0	1	16	143	0	35	1	1	141	969	0	35	2		0	0	0	0	0	2	1	9.999401e-01	16	140	0	35	2								-19.999720	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.860000	0.570000	1.000000	0.990000	0.848199	0.860000	1	7.200000e-01	9.600000e-01
HS2ST1	9653	broad.mit.edu	37	1	87549948	87549948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87549948C>A	ENST00000370550.5	+	3	798	c.435C>A	c.(433-435)taC>taA	p.Y145*	RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1			9		Lung NSC(277;0.153)			ACGTTTCTTACTTGGATTTTG	0.313000																								0							SO:0001587	stop_gained			ENST00000370550.5	0	1	hg19	CCDS711.1	.	.	.	.	.	.	.	.	.	.	C	38	6.658635	0.97739	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.81	-0.175	0.13315	.	0.114120	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-23.0488	12.1377	0.53981	0.0:0.5105:0.0:0.4895	.	.	.	.	X	145;145;119;119	.	ENSP00000349268:Y119X	Y	+	3	2	HS2ST1	87322536	0.825000	0.29262	0.998000	0.56505	0.998000	0.95712	-0.071000	0.11505	0.051000	0.15978	0.637000	0.83480	TAC		TCGA-IB-7651-01A-11D-2154-08	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	1	0	1	63	221	0	61	1	1	2	99	0	61	2		0	0	0	0	0	2	1	1	61	219	0	60	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980705	0.980000	1	9.500000e-01	1
SAMD11	148398	broad.mit.edu	37	1	879470	879470	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:879470G>T	ENST00000342066.3	+	14	2066	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11			15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CTTCACCCAAGCAGGAGAATG	0.657000																								0							SO:0001583	missense			ENST00000342066.3	1	1	hg19	CCDS2.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.737742|2.737742	0.49045|0.49045	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000342066|ENST00000341065;ENST00000455979	.|.	.|.	.|.	5.05|5.05	-2.44|-2.44	0.06502|0.06502	.|.	0.060271|.	0.64402|.	D|.	0.000004|.	T|T	0.65974|0.65974	0.2743|0.2743	M|M	0.66939|0.66939	2.045|2.045	0.51482|0.51482	D|D	0.99992|0.99992	D;D|.	0.63046|.	0.992;0.986|.	P;P|.	0.50659|.	0.647;0.541|.	T|T	0.65240|0.65240	-0.6216|-0.6216	9|5	0.87932|.	D|.	0|.	-16.797|-16.797	11.726|11.726	0.51710|0.51710	0.4417:0.0:0.5583:0.0|0.4417:0.0:0.5583:0.0	.|.	645;661|.	Q96NU1-1;Q96NU1|.	.;SAM11_HUMAN|.	N|I	661|569;521	.|.	ENSP00000342313:K661N|.	K|S	+|+	3|2	2|0	SAMD11|SAMD11	869333|869333	1.000000|1.000000	0.71417|0.71417	0.218000|0.218000	0.23776|0.23776	0.500000|0.500000	0.33767|0.33767	1.943000|1.943000	0.40253|0.40253	-0.315000|-0.315000	0.08703|0.08703	-0.300000|-0.300000	0.09419|0.09419	AAG|AGC		TCGA-IB-7651-01A-11D-2154-08	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	1	0	1	113	482	0	152	0	9.625351e-01	0	25	0	152	2		0	0	0	0	0	2	1	1	111	473	0	151	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988675	0.980000	1	9.700000e-01	1
ENO1	2023	broad.mit.edu	37	1	8923343	8923343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8923343G>A	ENST00000234590.4	-	10	1246	c.1127C>T	c.(1126-1128)aCt>aTt	p.T376I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)			10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			GGTATCTTCAGTCTCCCCCGA	0.547000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Esophageal Squamous(21;302 608 19946 22210 33560)											0							SO:0001583	missense			ENST00000234590.4	1	1	hg19	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020741	0.93462	.	.	ENSG00000074800	ENST00000234590	T	0.26067	1.76	5.46	5.46	0.80206	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	H	0.98901	4.365	0.58432	D	0.999994	P;D;D;P;D;D	0.89917	0.886;0.999;0.971;0.886;0.999;1.0	D;D;D;D;D;D	0.91635	0.964;0.998;0.964;0.94;0.996;0.999	D	0.83613	0.0135	10	0.87932	D	0	-37.9347	18.2966	0.90148	0.0:0.0:1.0:0.0	.	77;280;214;126;283;376	A4QMW8;E2DRY6;Q9BT62;Q96GV1;P06733-2;P06733	.;.;.;.;.;ENOA_HUMAN	I	376	ENSP00000234590:T376I	ENSP00000234590:T376I	T	-	2	0	ENO1	8845930	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	9.712000	0.98738	2.586000	0.87340	0.561000	0.74099	ACT		TCGA-IB-7651-01A-11D-2154-08	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	0	0	1	8	152	0	48	1	1	697	6568	0	48	2		0	0	0	0	0	2	1	9.888377e-01	7	149	0	47	2								-11.070460	1	1	121412	10	37	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.530000	0.250000	0.880000	0.510000	0.553495	0.530000	0	3.700000e-01	7.200000e-01
NOC2L	26155	broad.mit.edu	37	1	892379	892379	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)			16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			CTCCTTCCTCCGCTCCATCCT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000327044.6	1	1	hg19	CCDS3.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	1	0	1	163	577	0	176	1	1	57	68	0	176	2		0	0	0	0	0	2	1	1	160	554	0	174	2								-4.312123	1	1	121412	8	43	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.993847	0.990000	1	9.800000e-01	1
NOC2L	26155	broad.mit.edu	37	1	892589	892589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892589C>T	ENST00000327044.6	-	3	293	c.244G>A	c.(244-246)Gag>Aag	p.E82K	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)			16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			TTGTAGAACTCGGGGTCTCTG	0.592000																								0							SO:0001583	missense			ENST00000327044.6	1	1	hg19	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401737	0.83120	.	.	ENSG00000188976	ENST00000327044	T	0.48201	0.82	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	T	0.77321	-0.2631	10	0.87932	D	0	-29.294	16.9781	0.86319	0.0:1.0:0.0:0.0	.	82;82	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	K	82	ENSP00000317992:E82K	ENSP00000317992:E82K	E	-	1	0	NOC2L	882452	1.000000	0.71417	0.940000	0.37924	0.980000	0.70556	7.297000	0.78799	2.254000	0.74563	0.558000	0.71614	GAG		TCGA-IB-7651-01A-11D-2154-08	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	1	0	1	90	337	0	98	1	1	44	58	0	98	2		0	0	0	0	0	2	1	1	88	332	0	98	2								-3.181623	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986614	0.980000	1	9.600000e-01	1
ENO1	2023	broad.mit.edu	37	1	8931976	8931976	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8931976T>A	ENST00000234590.4	-	3	274	c.155A>T	c.(154-156)aAt>aTt	p.N52I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)			10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			AGTCTTATCATTGTCCCGGAG	0.542000											OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Esophageal Squamous(21;302 608 19946 22210 33560)											0							SO:0001583	missense			ENST00000234590.4	1	1	hg19	CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704455	0.88924	.	.	ENSG00000074800	ENST00000234590	T	0.31247	1.5	5.87	5.87	0.94306	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.89785	3.06	0.39911	D	0.974039	B;B	0.31256	0.154;0.316	P;P	0.48795	0.59;0.486	T	0.65903	-0.6055	10	0.87932	D	0	-29.3646	15.0982	0.72253	0.0:0.0:0.0:1.0	.	19;52	A4UCS8;P06733	.;ENOA_HUMAN	I	52	ENSP00000234590:N52I	ENSP00000234590:N52I	N	-	2	0	ENO1	8854563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.174000	0.58256	2.253000	0.74438	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	1	0	1	64	478	0	157	1	1	937	4825	0	157	2		0	0	0	0	0	2	1	1	64	463	0	156	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.955740	0.960000	1	9.100000e-01	9.900000e-01
GBP1	2633	broad.mit.edu	37	1	89520419	89520419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89520419G>A	ENST00000370473.4	-	10	1830	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible			30		Lung NSC(277;0.123)			GGACCCTGTCGTTCTCCATCT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000370473.4	1	1	hg19	CCDS718.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	1	0	0	83	1457	0	371	1	9.999999e-01	17	359	0	371	2		0	0	0	0	0	2	1	1	81	1413	0	369	2								-9.178405	1	1	121412	1	43	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.570000	0.460000	0.700000	0.580000	0.582690	0.570000	0	5.100000e-01	6.400000e-01
GBP1	2633	broad.mit.edu	37	1	89525106	89525106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89525106C>T	ENST00000370473.4	-	4	541	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible			30		Lung NSC(277;0.123)			TTCTGGTTGTCACCCTGGAAG	0.483000																								0							SO:0001583	missense			ENST00000370473.4	1	1	hg19	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680954	0.47886	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.75938	-0.98	4.6	1.65	0.23941	Guanylate-binding protein, N-terminal (1);	0.225904	0.42682	N	0.000670	T	0.49712	0.1573	L	0.52905	1.665	0.24793	N	0.992749	B	0.28713	0.22	B	0.32805	0.153	T	0.47446	-0.9117	10	0.46703	T	0.11	.	7.5495	0.27788	0.0:0.7053:0.0:0.2947	.	108	P32455	GBP1_HUMAN	N	108;71	ENSP00000359504:D108N	ENSP00000359504:D108N	D	-	1	0	GBP1	89297694	0.987000	0.35691	0.996000	0.52242	0.820000	0.46376	1.855000	0.39378	0.382000	0.24878	0.306000	0.20318	GAC		TCGA-IB-7651-01A-11D-2154-08	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	1	0	1	44	412	0	80	1	1	24	234	0	80	2		0	0	0	0	0	2	1	1	43	403	0	80	2								-14.270440	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.903571	0.910000	1	8.200000e-01	9.800000e-01
GBP2	2634	broad.mit.edu	37	1	89575855	89575855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89575855G>A	ENST00000370466.3	-	9	1725	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible			20		Lung NSC(277;0.0908)			ACCTTCAATCGCTTTTTCCTT	0.413000																								0							SO:0001583	missense			ENST00000370466.3	1	1	hg19	CCDS719.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.77	2.932109	0.52866	.	.	ENSG00000162645	ENST00000370466	T	0.02216	4.39	3.85	2.72	0.32119	Guanylate-binding protein, C-terminal (3);	4.217600	0.02050	U	0.049988	T	0.01627	0.0052	M	0.65677	2.01	0.22858	N	0.998644	B	0.27351	0.176	B	0.29942	0.109	T	0.46884	-0.9159	10	0.54805	T	0.06	-6.9689	8.6466	0.34009	0.0:0.0:0.2062:0.7938	.	486	P32456	GBP2_HUMAN	V	486	ENSP00000359497:A486V	ENSP00000359497:A486V	A	-	2	0	GBP2	89348443	0.002000	0.14202	0.423000	0.26634	0.601000	0.36947	0.741000	0.26202	0.634000	0.30469	-0.271000	0.10264	GCG		TCGA-IB-7651-01A-11D-2154-08	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	1	0	1	50	431	0	80	1	1	150	1103	0	80	2		0	0	0	0	0	2	1	1	50	424	0	78	2								-16.531660	1	1	121412	2	35	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.770000	1.000000	0.990000	0.926905	0.930000	1	8.600000e-01	9.900000e-01
GBP2	2634	broad.mit.edu	37	1	89587545	89587545	+	Silent	SNP	C	C	T	rs140687152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89587545C>T	ENST00000370466.3	-	2	373	c.105G>A	c.(103-105)acG>acA	p.T35T	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible			20		Lung NSC(277;0.0908)			CCACAGGCTGCGTAATTGCAG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000370466.3	1	1	hg19	CCDS719.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	1	0	1	133	452	0	112	1	1	149	468	0	112	2		0	0	0	0	0	2	1	1	131	445	0	112	2								-2.828214	1	1	121412	24	50	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992231	0.990000	1	9.700000e-01	1
GBP4	115361	broad.mit.edu	37	1	89652754	89652754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89652754G>A	ENST00000355754.6	-	9	1539	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4			33					AACCACCTGTGACTGCAGGAA	0.517000																								0							SO:0001583	missense			ENST00000355754.6	1	1	hg19	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410312	0.42715	.	.	ENSG00000162654	ENST00000355754	T	0.02606	4.23	4.3	1.27	0.21489	Guanylate-binding protein, C-terminal (3);	0.733487	0.12731	N	0.443803	T	0.03305	0.0096	M	0.92317	3.295	0.09310	N	1	P	0.37573	0.6	B	0.42653	0.394	T	0.21655	-1.0239	10	0.48119	T	0.1	.	5.8011	0.18414	0.0935:0.0:0.4101:0.4964	.	481	Q96PP9	GBP4_HUMAN	L	481	ENSP00000359490:S481L	ENSP00000359490:S481L	S	-	2	0	GBP4	89425342	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.528000	0.23002	0.156000	0.19299	-1.130000	0.01982	TCA		TCGA-IB-7651-01A-11D-2154-08	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	1	0	1	40	313	0	84	1	1	6	260	0	84	2		0	0	0	0	0	2	1	1	40	310	0	83	2								-15.545440	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.760000	1.000000	0.990000	0.929841	0.940000	1	8.600000e-01	9.900000e-01
GBP4	115361	broad.mit.edu	37	1	89655896	89655896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89655896G>A	ENST00000355754.6	-	7	1119	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4			33					CCTCTGCACAGCCGCTGGGTT	0.592000																								0							SO:0001583	missense			ENST00000355754.6	1	1	hg19	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492929	0.84962	.	.	ENSG00000162654	ENST00000355754	T	0.09817	2.94	5.07	5.07	0.68467	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.90977	3.165	0.38393	D	0.945461	D	0.89917	1.0	D	0.72075	0.976	T	0.39187	-0.9626	10	0.87932	D	0	.	16.3386	0.83074	0.0:0.0:1.0:0.0	.	341	Q96PP9	GBP4_HUMAN	V	341	ENSP00000359490:A341V	ENSP00000359490:A341V	A	-	2	0	GBP4	89428484	0.999000	0.42202	0.181000	0.23098	0.005000	0.04900	4.089000	0.57685	2.797000	0.96272	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	1	0	1	76	286	0	54	1	1	44	205	0	54	2		0	0	0	0	0	2	1	1	74	283	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983665	0.980000	1	9.600000e-01	1
GBP4	115361	broad.mit.edu	37	1	89657065	89657065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89657065G>A	ENST00000355754.6	-	6	892	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4			33					CTGGCACTTCGTCCATATGAT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000355754.6	1	1	hg19	CCDS721.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	1	0	1	69	313	0	92	1	1	36	154	0	92	2		0	0	0	0	0	2	1	1	67	310	0	91	2								-3.406454	1	1	121412	2	34	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.978995	0.980000	1	9.500000e-01	1
KLHL17	339451	broad.mit.edu	37	1	897248	897248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:897248C>T	ENST00000338591.3	+	4	639	c.532C>T	c.(532-534)Cga>Tga	p.R178*	NOC2L_ENST00000487214.1_5'Flank|NOC2L_ENST00000327044.6_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17			10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			GAATGGCGTCCGAGACGCTTG	0.647000																								0							SO:0001587	stop_gained			ENST00000338591.3	0	1	hg19	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.236927	0.97403	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	.	.	.	5.16	2.01	0.26516	.	0.060359	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2287	0.31584	0.3856:0.5422:0.0:0.0722	.	.	.	.	X	178;54	.	ENSP00000343930:R178X	R	+	1	2	KLHL17	887111	1.000000	0.71417	0.639000	0.29394	0.925000	0.55904	1.054000	0.30455	0.657000	0.30906	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	0	0	0	33	308	0	80	0	2.231489e-01	1	8	0	80	2		0	0	0	0	0	2	1	1	33	305	0	78	2								-3.017764	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.890000	0.680000	1.000000	0.990000	0.888348	0.890000	1	7.900000e-01	9.700000e-01
GBP5	115362	broad.mit.edu	37	1	89727941	89727941	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89727941G>T	ENST00000370459.3	-	10	1736	c.1609C>A	c.(1609-1611)Ctg>Atg	p.L537M	GBP5_ENST00000343435.5_Missense_Mutation_p.L537M|GBP5_ENST00000471171.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5			24					TGCTCTGCCAGCCAATTTTGT	0.468000																								0							SO:0001583	missense			ENST00000370459.3	1	1	hg19	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794136	0.31777	.	.	ENSG00000154451	ENST00000343435;ENST00000370459	T;T	0.57595	0.39;0.39	4.86	-6.53	0.01866	Guanylate-binding protein, C-terminal (3);	2.711920	0.01238	N	0.008520	T	0.20536	0.0494	L	0.41124	1.26	0.09310	N	1	P	0.44478	0.836	P	0.45577	0.486	T	0.31280	-0.9949	10	0.35671	T	0.21	2.8724	0.2147	0.00160	0.3135:0.2222:0.2393:0.2251	.	537	Q96PP8	GBP5_HUMAN	M	537	ENSP00000340396:L537M;ENSP00000359488:L537M	ENSP00000340396:L537M	L	-	1	2	GBP5	89500529	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.974000	0.03794	-1.049000	0.03234	-0.196000	0.12772	CTG		TCGA-IB-7651-01A-11D-2154-08	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	0	0	1	115	521	0	130	1	1	40	267	0	130	2		0	0	0	0	0	2	1	1	114	505	0	130	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988265	0.980000	1	9.700000e-01	1
LRRC8B	23507	broad.mit.edu	37	1	90048877	90048877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90048877C>T	ENST00000330947.2	+	5	1028	c.668C>T	c.(667-669)tCc>tTc	p.S223F	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B			26		all_lung(203;0.17)			AGCCCAACTTCCAGTGTCCTG	0.488000																								0							SO:0001583	missense			ENST00000330947.2	1	1	hg19	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724491	0.68959	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.38240	1.15;1.15;1.15	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.44542	1.39	0.58432	D	0.999998	D	0.65815	0.995	P	0.56278	0.795	T	0.03597	-1.1021	9	.	.	.	.	19.0782	0.93171	0.0:1.0:0.0:0.0	.	223	Q6P9F7	LRC8B_HUMAN	F	223	ENSP00000332674:S223F;ENSP00000350933:S223F;ENSP00000400704:S223F	.	S	+	2	0	LRRC8B	89821465	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.729000	0.68538	2.572000	0.86782	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	1	0	1	68	211	0	62	1	9.991543e-01	19	17	0	62	2		0	0	0	0	0	2	1	1	68	207	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983447	0.980000	1	9.600000e-01	1
LRRC8C	84230	broad.mit.edu	37	1	90178779	90178779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90178779C>A	ENST00000370454.4	+	3	905	c.650C>A	c.(649-651)cCt>cAt	p.P217H	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C			28		all_lung(203;0.126)			AAGTCCATTCCTGAGAAGTTT	0.453000																								0							SO:0001583	missense			ENST00000370454.4	1	1	hg19	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234785	0.58886	.	.	ENSG00000171488	ENST00000370454	T	0.24538	1.85	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.59436	1.845	0.80722	D	1	D	0.55800	0.973	P	0.54924	0.764	T	0.01256	-1.1404	10	0.46703	T	0.11	.	20.3501	0.98811	0.0:1.0:0.0:0.0	.	217	Q8TDW0	LRC8C_HUMAN	H	217	ENSP00000359483:P217H	ENSP00000359483:P217H	P	+	2	0	LRRC8C	89951367	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	6.086000	0.71352	2.807000	0.96579	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	1	0	1	35	273	0	58	1	9.347890e-01	5	33	0	58	2		0	0	0	0	0	2	1	1	35	271	0	58	2								-2.744777	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.930000	0.750000	1.000000	0.990000	0.923124	0.930000	1	8.500000e-01	9.900000e-01
LRRC8C	84230	broad.mit.edu	37	1	90179146	90179146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90179146C>A	ENST00000370454.4	+	3	1272	c.1017C>A	c.(1015-1017)taC>taA	p.Y339*	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C			28		all_lung(203;0.126)			ATACCTTATACTGGCTGTTCT	0.388000																								0							SO:0001587	stop_gained			ENST00000370454.4	0	1	hg19	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504666	0.96371	.	.	ENSG00000171488	ENST00000370454	.	.	.	5.86	1.92	0.25849	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1756	0.37109	0.0:0.6042:0.0:0.3958	.	.	.	.	X	339	.	ENSP00000359483:Y339X	Y	+	3	2	LRRC8C	89951734	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	0.261000	0.18442	0.821000	0.34540	0.650000	0.86243	TAC		TCGA-IB-7651-01A-11D-2154-08	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	1	0	1	29	313	0	71	1	8.771456e-01	5	37	0	71	2		0	0	0	0	0	2	1	1	29	308	0	71	2								-9.741923	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.840000	0.600000	0.990000	0.890000	0.838301	0.840000	0	7.200000e-01	9.500000e-01
CA6	765	broad.mit.edu	37	1	9019051	9019051	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9019051C>T	ENST00000377443.2	+	4	495	c.491C>T	c.(490-492)gCc>gTc	p.A164V	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.A104V|CA6_ENST00000377436.3_Missense_Mutation_p.A164V	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI			16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		Mafenide(DB06795)|Zonisamide(DB00909)	GTACTGGCAGCCTTCGTTGAG	0.413000																								0							SO:0001583	missense			ENST00000377443.2	1	0	hg19	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	1.521	-0.546827	0.04024	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.11	-1.43	0.08884	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.775342	0.12733	N	0.443663	T	0.16557	0.0398	N	0.00873	-1.125	0.09310	N	1	P;B	0.38992	0.653;0.308	B;B	0.25884	0.064;0.064	T	0.39981	-0.9587	10	0.02654	T	1	.	5.5065	0.16856	0.0:0.4073:0.1422:0.4505	.	104;164	E7EMQ1;P23280	.;CAH6_HUMAN	V	132;164;164;104	ENSP00000447108:A132V;ENSP00000366662:A164V;ENSP00000366654:A164V;ENSP00000366661:A104V	ENSP00000366654:A164V	A	+	2	0	CA6	8941638	0.043000	0.20138	0.000000	0.03702	0.168000	0.22595	0.500000	0.22562	-0.203000	0.10251	-0.165000	0.13383	GCC		TCGA-IB-7651-01A-11D-2154-08	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1	1	0	0	72	697	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1	68	686	0	160	2								-1.690405	0	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.760000	1.000000	0.990000	0.918071	0.920000	1	8.400000e-01	9.800000e-01
CA6	765	broad.mit.edu	37	1	9030969	9030969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9030969C>T	ENST00000377443.2	+	7	777	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.T198I|CA6_ENST00000377436.3_Missense_Mutation_p.T258I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI			16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		Mafenide(DB06795)|Zonisamide(DB00909)	CGCAACAAGACCATCCACAAC	0.512000																								0							SO:0001583	missense			ENST00000377443.2	1	1	hg19	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639481	0.29157	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.68025	-0.3;-0.3;-0.3	5.57	3.71	0.42584	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.492459	0.22962	N	0.053539	T	0.73659	0.3615	L	0.56199	1.76	0.24211	N	0.995473	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.961	T	0.62530	-0.6835	10	0.41790	T	0.15	.	8.7616	0.34678	0.0:0.8251:0.0:0.1749	.	198;258	E7EMQ1;P23280	.;CAH6_HUMAN	I	258;258;198	ENSP00000366662:T258I;ENSP00000366654:T258I;ENSP00000366661:T198I	ENSP00000366654:T258I	T	+	2	0	CA6	8953556	0.992000	0.36948	0.034000	0.17996	0.008000	0.06430	3.136000	0.50554	0.721000	0.32231	0.205000	0.17691	ACC		TCGA-IB-7651-01A-11D-2154-08	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1	1	0	1	81	462	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	79	451	0	150	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977351	0.980000	1	9.500000e-01	1
LRRC8D	55144	broad.mit.edu	37	1	90398904	90398904	+	Missense_Mutation	SNP	C	C	T	rs139352797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90398904C>T	ENST00000337338.5	+	3	684	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D			29		all_lung(203;0.0894)|Lung NSC(277;0.227)			CCAAGATGGGCGGACAACAAA	0.493000																								0							SO:0001583	missense			ENST00000337338.5	1	1	hg19	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	5.908	0.351627	0.11182	0.0	1.16E-4	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000532201;ENST00000414841;ENST00000527156;ENST00000441269	T;T;T	0.44482	1.49;1.49;0.92	6.07	-1.26	0.09376	.	0.859492	0.09801	N	0.754096	T	0.04182	0.0116	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	9	.	.	.	.	0.5437	0.00650	0.2241:0.3021:0.2206:0.2531	.	93	Q7L1W4	LRC8D_HUMAN	W	93	ENSP00000338887:R93W;ENSP00000378093:R93W;ENSP00000405784:R93W	.	R	+	1	2	LRRC8D	90171492	0.000000	0.05858	0.037000	0.18230	0.050000	0.14768	0.014000	0.13333	0.138000	0.18790	-0.136000	0.14681	CGG		TCGA-IB-7651-01A-11D-2154-08	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1	34	166	0	45	1	9.999351e-01	8	68	0	45	2		0	0	0	0	0	2	1	1	33	163	0	45	2								-19.393960	1	1	121410	4	39	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.954425	0.960000	1	9.000000e-01	9.900000e-01
LRRC8D	55144	broad.mit.edu	37	1	90399281	90399281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399281C>T	ENST00000337338.5	+	3	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	LRRC8D_ENST00000394593.3_Silent_p.C218C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D			29		all_lung(203;0.0894)|Lung NSC(277;0.227)			AGACAGCATGCGAAGACTCAG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000337338.5	1	1	hg19	CCDS726.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1	59	236	0	62	1	9.999986e-01	20	63	0	62	2		0	0	0	0	0	2	1	1	58	229	0	60	2								-3.543519	1	1	121412	6	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977447	0.980000	1	9.500000e-01	1
LRRC8D	55144	broad.mit.edu	37	1	90399638	90399638	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399638C>T	ENST00000337338.5	+	3	1418	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	LRRC8D_ENST00000394593.3_Silent_p.H337H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D			29		all_lung(203;0.0894)|Lung NSC(277;0.227)			GCTTTGAACACGTCTGCAAGC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000337338.5	1	1	hg19	CCDS726.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1	96	468	0	104	1	9.992978e-01	13	41	0	104	2		0	0	0	0	0	2	1	1	94	464	0	104	2								-20.000000	1	1	121412	3	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.984391	0.980000	1	9.600000e-01	1
LRRC8D	55144	broad.mit.edu	37	1	90400677	90400677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90400677C>T	ENST00000337338.5	+	3	2457	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	p.R684*(1)		29		all_lung(203;0.0894)|Lung NSC(277;0.227)			GCATTTAAAACGACTGACTTG	0.343000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000337338.5	0	1	hg19	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	39	7.678981	0.98428	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	.	.	.	6.07	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4984	0.61438	0.4943:0.5057:0.0:0.0	.	.	.	.	X	684	.	.	R	+	1	2	LRRC8D	90173265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	0.784000	0.33661	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1	27	331	0	74	1	9.959058e-01	12	95	0	74	2		0	0	0	0	0	2	1	1	27	326	0	74	2								-8.387971	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.780000	0.540000	0.980000	0.790000	0.782643	0.780000	0	6.500000e-01	9.100000e-01
ZNF326	284695	broad.mit.edu	37	1	90470725	90470725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90470725G>A	ENST00000340281.4	+	4	274	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.3_Missense_Mutation_p.G44E|ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326			25		all_lung(203;0.0116)|Lung NSC(277;0.0417)			GGATCCTATGGGGGTCAGAGA	0.423000																								0							SO:0001583	missense			ENST00000340281.4	1	1	hg19	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250062	0.80024	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.65732	0.64;-0.17	5.38	5.38	0.77491	.	0.295538	0.31323	N	0.007841	T	0.66799	0.2826	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70766	-0.4783	10	0.72032	D	0.01	-8.5984	17.2903	0.87154	0.0:0.0:1.0:0.0	.	44;44	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	E	44	ENSP00000340796:G44E;ENSP00000359476:G44E	ENSP00000340796:G44E	G	+	2	0	ZNF326	90243313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.385000	0.73182	2.502000	0.84385	0.453000	0.30009	GGG		TCGA-IB-7651-01A-11D-2154-08	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	1	0	1	73	378	0	96	1	9.261180e-01	5	20	0	96	2		0	0	0	0	0	2	1	1	68	370	0	95	2								-3.027153	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977499	0.980000	1	9.500000e-01	1
PLEKHN1	84069	broad.mit.edu	37	1	907699	907699	+	Silent	SNP	C	C	T	rs142121682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:907699C>T	ENST00000379409.2	+	9	1083	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	PLEKHN1_ENST00000379410.3_Silent_p.C299C|PLEKHN1_ENST00000379407.3_Silent_p.C311C			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1			9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			GCGTGGTGTGCGCCAGCTACG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000379409.2	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	1	0	0	26	199	0	43	1	4.646769e-01	2	11	0	43	2		0	0	0	0	0	2	1	9.999999e-01	25	197	0	43	2								-20.000000	1	1	121026	12	39	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.920000	0.700000	1.000000	0.990000	0.907938	0.920000	1	8.200000e-01	9.800000e-01
BARHL2	343472	broad.mit.edu	37	1	91182141	91182141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91182141G>A	ENST00000370445.4	-	1	653	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2			24		all_lung(203;0.0263)|Lung SC(238;0.128)			GGCATTTGATGTCGCTCTGGG	0.602000													GBM(199;3561 4100 22440)											0							SO:0001819	synonymous_variant			ENST00000370445.4	1	1	hg19	CCDS730.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2	1	0	0	15	251	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	9.998668e-01	14	247	0	43	2								-17.824960	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.590000	0.350000	0.890000	0.590000	0.614160	0.590000	0	4.600000e-01	7.500000e-01
ZNF644	84146	broad.mit.edu	37	1	91405757	91405757	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405757T>C	ENST00000370440.1	-	3	1371	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644			47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)			TTTTAAGGTATTTGAAAGAAA	0.388000																								0							SO:0001583	missense			ENST00000370440.1	1	1	hg19	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	9.350	1.065165	0.20067	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00585	6.39;6.39	5.58	4.45	0.53987	.	0.334787	0.35936	N	0.002883	T	0.00271	0.0008	L	0.32530	0.975	0.43652	D	0.996066	B	0.10296	0.003	B	0.08055	0.003	T	0.59521	-0.7439	10	0.33141	T	0.24	-6.1922	11.4023	0.49876	0.0:0.0706:0.0:0.9294	.	385	Q9H582	ZN644_HUMAN	S	385	ENSP00000359469:N385S;ENSP00000337008:N385S	ENSP00000337008:N385S	N	-	2	0	ZNF644	91178345	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.106000	0.41835	0.958000	0.37956	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	1	0	1	129	432	0	129	1	9.971159e-01	13	19	0	129	2		0	0	0	0	0	2	1	1	128	425	0	128	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992001	0.990000	1	9.700000e-01	1
ZNF644	84146	broad.mit.edu	37	1	91405961	91405961	+	Missense_Mutation	SNP	T	T	G	rs145118167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405961T>G	ENST00000370440.1	-	3	1167	c.950A>C	c.(949-951)aAa>aCa	p.K317T	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644			47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)			CATTTTTGATTTATTGGGTAC	0.328000																								0							SO:0001583	missense			ENST00000370440.1	1	1	hg19	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673492	0.47781	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00609	6.24;6.24	5.58	5.58	0.84498	.	0.111999	0.64402	D	0.000005	T	0.00328	0.0010	L	0.32530	0.975	0.48696	D	0.999694	B	0.29212	0.237	B	0.22880	0.042	T	0.72151	-0.4377	10	0.48119	T	0.1	-16.216	15.756	0.78025	0.0:0.0:0.0:1.0	.	317	Q9H582	ZN644_HUMAN	T	317	ENSP00000359469:K317T;ENSP00000337008:K317T	ENSP00000337008:K317T	K	-	2	0	ZNF644	91178549	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.699000	0.68310	2.131000	0.65755	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	1	0	1	69	248	0	80	1	9.977937e-01	12	24	0	80	2		0	0	0	0	0	2	1	1	69	246	0	79	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982313	0.980000	1	9.500000e-01	1
ZNF644	84146	broad.mit.edu	37	1	91406463	91406463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91406463C>A	ENST00000370440.1	-	3	665	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644			47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)			GAACAAGATTCTGTTGTTGGC	0.403000																								0							SO:0001587	stop_gained			ENST00000370440.1	0	1	hg19	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528257	0.64860	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	.	.	.	5.77	5.77	0.91146	.	0.066947	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1133	19.9855	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000337008:E150X	E	-	1	0	ZNF644	91179051	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.677000	0.68142	2.715000	0.92844	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	1	0	1	104	380	0	105	1	9.977859e-01	10	26	0	105	2		0	0	0	0	0	2	1	1	102	373	0	105	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.940000	1.000000	0.990000	0.988926	0.980000	1	9.700000e-01	1
HFM1	164045	broad.mit.edu	37	1	91781522	91781522	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91781522C>A	ENST00000370425.3	-	28	3088	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.R229I|HFM1_ENST00000370424.3_Missense_Mutation_p.R676I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)			75		all_lung(203;0.00961)|Lung NSC(277;0.0351)			ATCACTATATCTTGTAATCTT	0.303000																								0							SO:0001583	missense			ENST00000370425.3	1	1	hg19	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.848|8.848	0.943933|0.943933	0.18281|0.18281	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.57273	.|0.41;0.41;0.41	5.25|5.25	3.37|3.37	0.38596|0.38596	.|Sec63 domain (2);	.|0.267631	.|0.35096	.|N	.|0.003455	T|T	0.50205|0.50205	0.1602|0.1602	L|L	0.56769|0.56769	1.78|1.78	0.53688|0.53688	D|D	0.999972|0.999972	.|P;D;D	.|0.63880	.|0.943;0.99;0.993	.|B;D;P	.|0.64595	.|0.445;0.927;0.854	T|T	0.56177|0.56177	-0.8022|-0.8022	5|10	.|0.66056	.|D	.|0.02	.|.	5.2022|5.2022	0.15271|0.15271	0.0:0.5967:0.0:0.4033|0.0:0.5967:0.0:0.4033	.|.	.|676;208;997	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	Y|I	209|997;229;676;681	.|ENSP00000359454:R997I;ENSP00000294696:R229I;ENSP00000359453:R676I	.|ENSP00000294696:R229I	D|R	-|-	1|2	0|0	HFM1|HFM1	91554110|91554110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	2.689000|2.689000	0.46993|0.46993	1.226000|1.226000	0.43582|0.43582	-0.384000|-0.384000	0.06662|0.06662	GAT|AGA		TCGA-IB-7651-01A-11D-2154-08	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	1	0	1	14	59	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.998565e-01	14	59	0	19	2								-3.600225	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.690000	1.000000	0.990000	0.909991	0.920000	1	8.200000e-01	9.900000e-01
HFM1	164045	broad.mit.edu	37	1	91841173	91841173	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91841173T>C	ENST00000370425.3	-	12	1605	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.N182D	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)			75		all_lung(203;0.00961)|Lung NSC(277;0.0351)			TCAGTTTGGTTACTACTGCAG	0.408000																								0							SO:0001583	missense			ENST00000370425.3	1	1	hg19	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822869	0.32237	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.91237	-0.53;-2.81	5.4	4.2	0.49525	.	0.000000	0.48767	U	0.000167	T	0.80752	0.4683	M	0.73962	2.25	0.80722	D	1	P;P	0.44627	0.839;0.704	B;B	0.33521	0.118;0.165	T	0.80730	-0.1252	10	0.13853	T	0.58	.	12.0484	0.53493	0.0:0.0:0.1439:0.856	.	182;503	A6NGI5;A2PYH4	.;HFM1_HUMAN	D	503;182;187;536	ENSP00000359454:N503D;ENSP00000359453:N182D	ENSP00000359450:N187D	N	-	1	0	HFM1	91613761	1.000000	0.71417	0.953000	0.39169	0.238000	0.25445	5.046000	0.64226	2.057000	0.61298	0.460000	0.39030	AAC		TCGA-IB-7651-01A-11D-2154-08	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	1	0	1	124	369	0	122	0	0	0	1	0	122	2		0	0	0	0	0	2	1	1	123	364	0	122	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992159	0.990000	1	9.700000e-01	1
GPR157	80045	broad.mit.edu	37	1	9188913	9188913	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9188913C>T	ENST00000377411.4	-	1	316	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GPR157_ENST00000414642.2_Silent_p.L58L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157			5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			CGGCCGAGAGCAGGTCGGCCA	0.721000																								0							SO:0001819	synonymous_variant			ENST00000377411.4	0	1	hg19	CCDS100.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	0	0	0	10	45	0	12	1	1.753422e-01	2	2	0	12	2		0	0	0	0	0	2	1	9.975552e-01	10	44	0	12	2								-19.999930	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.900000	0.610000	1.000000	0.990000	0.879875	0.900000	1	7.700000e-01	9.800000e-01
CDC7	8317	broad.mit.edu	37	1	91967338	91967338	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91967338T>C	ENST00000428239.1	+	2	324	c.65T>C	c.(64-66)tTt>tCt	p.F22S	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.F22S|CDC7_ENST00000430031.2_Missense_Mutation_p.F22S	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7			23		all_lung(203;0.0165)|Lung NSC(277;0.0562)			CGTGACCGGTTTCAGGCTGAA	0.428000																								0							SO:0001583	missense			ENST00000428239.1	1	1	hg19	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	7.648	0.682364	0.14907	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.49432	0.78;1.01;1.01;2.02	5.42	1.72	0.24424	.	1.624430	0.02734	N	0.115407	T	0.07413	0.0187	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.10405	-1.0631	10	0.22109	T	0.4	-3.2262	2.6492	0.04994	0.1226:0.1499:0.1202:0.6073	.	22;22	B7Z5H7;O00311	.;CDC7_HUMAN	S	22	ENSP00000407477:F22S;ENSP00000234626:F22S;ENSP00000393139:F22S;ENSP00000398077:F22S	ENSP00000234626:F22S	F	+	2	0	CDC7	91739926	0.001000	0.12720	0.151000	0.22473	0.612000	0.37316	0.256000	0.18351	-0.131000	0.11578	-1.431000	0.01090	TTT		TCGA-IB-7651-01A-11D-2154-08	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	1	0	1	73	562	0	128	1	1.477259e-01	2	4	0	128	2		0	0	0	0	0	2	1	1	72	552	0	127	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.960000	0.840000	1.000000	0.990000	0.957757	0.960000	1	9.100000e-01	9.900000e-01
TGFBR3	7049	broad.mit.edu	37	1	92200439	92200439	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92200439G>T	ENST00000525962.1	-	4	523	c.462C>A	c.(460-462)ccC>ccA	p.P154P	TGFBR3_ENST00000370399.2_Silent_p.P154P|TGFBR3_ENST00000212355.4_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III			55		all_lung(203;0.00719)|Lung NSC(277;0.0268)			CATTTCCATGGGGGAAGTTCC	0.413000																								0							SO:0001819	synonymous_variant			ENST00000525962.1	1	1	hg19	CCDS30770.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	1	0	1	153	627	0	177	1	9.778861e-01	13	14	0	177	2		0	0	0	0	0	2	1	1	151	622	0	175	2								-2.733454	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992490	0.990000	1	9.700000e-01	1
BRDT	676	broad.mit.edu	37	1	92446276	92446276	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92446276C>A	ENST00000362005.3	+	10	1782	c.1364C>A	c.(1363-1365)tCt>tAt	p.S455Y	BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y|BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000370389.2_Missense_Mutation_p.S382Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific			56		all_lung(203;0.00531)|Lung NSC(277;0.0194)			AAAGAGAAGTCTAAAAAGGAA	0.323000																								0							SO:0001583	missense			ENST00000362005.3	1	1	hg19	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	7.522	0.656878	0.14580	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.8	4.89	0.63831	.	0.810877	0.10944	N	0.616858	T	0.08268	0.0206	L	0.51422	1.61	0.26267	N	0.978481	P;P;B;P	0.48162	0.906;0.906;0.048;0.906	P;P;B;P	0.44732	0.459;0.459;0.024;0.459	T	0.21314	-1.0249	10	0.72032	D	0.01	-0.1534	9.7956	0.40733	0.1389:0.7913:0.0:0.0698	.	409;409;459;455	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Y	455;382;455;455;409;455;455	ENSP00000354568:S455Y;ENSP00000359416:S382Y;ENSP00000387822:S455Y;ENSP00000378038:S409Y;ENSP00000404969:S455Y;ENSP00000384051:S455Y	ENSP00000354568:S455Y	S	+	2	0	BRDT	92218864	0.994000	0.37717	0.097000	0.21041	0.118000	0.20060	2.258000	0.43249	1.457000	0.47850	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	1	0	1	21	158	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	9.999978e-01	21	153	0	81	2								-10.524600	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.670000	1.000000	0.990000	0.895916	0.910000	1	8.000000e-01	9.800000e-01
EPHX4	253152	broad.mit.edu	37	1	92518101	92518101	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92518101G>T	ENST00000370383.4	+	6	841	c.743G>T	c.(742-744)gGc>gTc	p.G248V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4			12					CACAGCACTGGCATTGGAAGA	0.338000													GBM(140;473 1857 5172 22066 49719)											0							SO:0001583	missense			ENST00000370383.4	0	1	hg19	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295042	0.81025	.	.	ENSG00000172031	ENST00000370383	T	0.03772	3.81	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.93283	3.4	0.80722	D	1	P	0.51933	0.949	P	0.58331	0.837	T	0.14117	-1.0484	10	0.59425	D	0.04	.	18.4188	0.90582	0.0:0.0:1.0:0.0	.	248	Q8IUS5	EPHX4_HUMAN	V	248	ENSP00000359410:G248V	ENSP00000359410:G248V	G	+	2	0	EPHX4	92290689	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.378000	0.97191	2.343000	0.79666	0.467000	0.42956	GGC		TCGA-IB-7651-01A-11D-2154-08	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	1	0	1	9	124	0	13	1	7.330674e-01	9	28	0	13	2		0	0	0	0	0	2	1	9.945488e-01	9	123	0	13	2								-13.257470	1	1	121408	2	31	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.680000	0.350000	0.970000	0.680000	0.685675	0.680000	0	5.000000e-01	8.700000e-01
BTBD8	284697	broad.mit.edu	37	1	92568203	92568203	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92568203G>A	ENST00000342818.3	+	3	757	c.521G>A	c.(520-522)aGa>aAa	p.R174K	BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K|BTBD8_ENST00000370382.3_Missense_Mutation_p.R174K	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8			16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)			ATCAGTGACAGAGATGATGAT	0.333000																								0							SO:0001583	missense			ENST00000342818.3	1	1	hg19	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	2.538	-0.306939	0.05458	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.62232	2.04;0.04;2.03	5.28	-6.7	0.01766	.	1.889290	0.02174	N	0.059959	T	0.08403	0.0209	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06807	-1.0806	10	0.02654	T	1	-16.235	2.599	0.04861	0.4836:0.2246:0.1779:0.114	.	174	Q5XKL5	BTBD8_HUMAN	K	174	ENSP00000359408:R174K;ENSP00000343686:R174K;ENSP00000443397:R174K	ENSP00000343686:R174K	R	+	2	0	BTBD8	92340791	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-0.200000	0.09478	-0.834000	0.04239	-0.282000	0.10007	AGA		TCGA-IB-7651-01A-11D-2154-08	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	1	0	1	57	217	0	61	1	5.236755e-01	4	4	0	61	2		0	0	0	0	0	2	1	1	56	208	0	60	2								-3.475715	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977356	0.980000	1	9.500000e-01	1
GLMN	11146	broad.mit.edu	37	1	92754605	92754605	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92754605T>C	ENST00000370360.3	-	6	579	c.498A>G	c.(496-498)atA>atG	p.I166M	GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein			17		all_lung(203;0.00827)|Lung NSC(277;0.0295)			CATCCATTTGTATTTGTTCTT	0.373000									Multiple Glomus Tumors (of the Skin), Familial															0							SO:0001583	missense	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	ENST00000370360.3	1	1	hg19	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426002	0.25726	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.43	-1.13	0.09775	.	0.202236	0.50627	D	0.000107	T	0.10165	0.0249	L	0.27053	0.805	0.35405	D	0.791937	B;B	0.24186	0.099;0.036	B;B	0.29942	0.109;0.034	T	0.04320	-1.0960	10	0.35671	T	0.21	-6.4651	1.6194	0.02710	0.3124:0.1362:0.0946:0.4568	.	166;166	B4DJ85;Q92990	.;GLMN_HUMAN	M	166	ENSP00000359385:I166M;ENSP00000440156:I166M	ENSP00000359385:I166M	I	-	3	3	GLMN	92527193	0.785000	0.28726	0.994000	0.49952	0.740000	0.42216	-0.237000	0.08990	0.341000	0.23771	0.477000	0.44152	ATA		TCGA-IB-7651-01A-11D-2154-08	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	1	0	1	25	276	0	63	1	5.657503e-01	8	14	0	63	2		0	0	0	0	0	2	1	9.999999e-01	25	275	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.820000	0.570000	0.990000	0.870000	0.822034	0.820000	0	6.900000e-01	9.400000e-01
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2			22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)			AGCAGTTAGGCGATTGCAAAT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000610020.1	1	1	hg19	CCDS740.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	1	0	1	40	376	0	115	1	9.948825e-01	8	70	0	115	2		0	0	0	0	0	2	1	1	40	370	0	115	2								-12.999340	1	1	121410	7	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.700000	1.000000	0.990000	0.897557	0.900000	1	8.100000e-01	9.800000e-01
RPAP2	79871	broad.mit.edu	37	1	92801960	92801960	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92801960T>G	ENST00000610020.1	+	10	1704	c.1595T>G	c.(1594-1596)cTt>cGt	p.L532R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2			22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)			TACACACAACTTAAAAATCTT	0.299000																								0							SO:0001583	missense			ENST00000610020.1	1	1	hg19	CCDS740.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092447	0.76756	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.74	5.74	0.90152	.	0.189633	0.47455	D	0.000223	T	0.72293	0.3442	M	0.76002	2.32	0.36136	D	0.846485	D	0.89917	1.0	D	0.71184	0.972	T	0.78411	-0.2214	8	0.87932	D	0	-15.3528	13.4234	0.61011	0.0:0.0:0.0:1.0	.	532	Q8IXW5	RPAP2_HUMAN	R	532	.	ENSP00000359368:L532R	L	+	2	0	RPAP2	92574548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.777000	0.62361	2.197000	0.70478	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	1	0	0	29	282	0	56	1	7.673700e-01	4	25	0	56	2		0	0	0	0	0	2	1	1	29	276	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.640000	1.000000	0.980000	0.870440	0.880000	1	7.600000e-01	9.700000e-01
RPAP2	79871	broad.mit.edu	37	1	92846382	92846382	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92846382A>G	ENST00000610020.1	+	12	1899	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2			22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)			AAAAATGAAGACCTTGAAAGT	0.368000																								0							SO:0001583	missense			ENST00000610020.1	1	1	hg19	CCDS740.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928953	0.52759	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	5.74	0.90152	.	0.048575	0.85682	D	0.000000	T	0.57681	0.2070	L	0.32530	0.975	0.37678	D	0.923373	D	0.89917	1.0	D	0.87578	0.998	T	0.64984	-0.6278	8	0.56958	D	0.05	-7.6521	13.5778	0.61885	1.0:0.0:0.0:0.0	.	597	Q8IXW5	RPAP2_HUMAN	G	597	.	ENSP00000359368:D597G	D	+	2	0	RPAP2	92618970	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.137000	0.64789	2.191000	0.70037	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	0	0	1	37	351	0	91	1	5.872199e-01	6	14	0	91	2		0	0	0	0	0	2	1	1	37	349	0	90	2								-12.706240	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.900000	0.690000	1.000000	0.990000	0.891013	0.900000	1	8.000000e-01	9.700000e-01
H6PD	9563	broad.mit.edu	37	1	9305205	9305205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9305205A>G	ENST00000377403.2	+	2	514	c.212A>G	c.(211-213)aAg>aGg	p.K71R	H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)			23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			ACAGCCCCCAAGCAGGGTCAA	0.572000																								0							SO:0001583	missense			ENST00000377403.2	1	1	hg19	CCDS101.1	.	.	.	.	.	.	.	.	.	.	a	14.41	2.528407	0.44969	.	.	ENSG00000049239	ENST00000377403	T	0.63255	-0.03	5.31	-0.342	0.12635	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.671439	0.15732	N	0.247370	T	0.45776	0.1359	L	0.38175	1.15	0.09310	N	0.999991	B	0.10296	0.003	B	0.09377	0.004	T	0.33394	-0.9870	10	0.51188	T	0.08	-5.7056	6.1322	0.20211	0.6308:0.1522:0.217:0.0	.	71	O95479	G6PE_HUMAN	R	71	ENSP00000366620:K71R	ENSP00000366620:K71R	K	+	2	0	H6PD	9227792	0.869000	0.29996	0.770000	0.31555	0.936000	0.57629	1.800000	0.38833	-0.129000	0.11620	-0.332000	0.08345	AAG		TCGA-IB-7651-01A-11D-2154-08	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	1	0	1	44	170	0	51	1	9.999375e-01	6	54	0	51	2		0	0	0	0	0	2	1	1	43	164	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.969982	0.970000	1	9.300000e-01	1
EVI5	7813	broad.mit.edu	37	1	93089889	93089889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93089889G>A	ENST00000370331.1	-	14	1632	c.1623C>T	c.(1621-1623)cgC>cgT	p.R541R	EVI5_ENST00000543509.1_Silent_p.R552R|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Silent_p.R541R	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5			38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)			GAGCTAAGTGGCGCTAAAGCA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000370331.1	0	1	hg19	CCDS30774.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	0	0	0	7	224	0	55	1	5.138560e-01	4	48	0	55	2		0	0	0	0	0	2	1	9.791990e-01	5	220	0	55	2								-8.681697	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.330000	0.140000	0.600000	0.310000	0.354010	0.330000	0	2.200000e-01	4.700000e-01
H6PD	9563	broad.mit.edu	37	1	9324603	9324603	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324603G>T	ENST00000377403.2	+	5	2353	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I	H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)			23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			GTGGCCAACAGCAGCTTCGAC	0.667000																								0							SO:0001583	missense			ENST00000377403.2	1	1	hg19	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533434	0.45073	.	.	ENSG00000049239	ENST00000377403	T	0.45668	0.89	5.72	3.75	0.43078	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.290238	0.43579	D	0.000548	T	0.33585	0.0868	L	0.39692	1.235	0.53688	D	0.999978	B	0.28128	0.201	B	0.35182	0.197	T	0.29882	-0.9997	10	0.72032	D	0.01	-21.6768	4.5196	0.11952	0.0826:0.2441:0.541:0.1322	.	684	O95479	G6PE_HUMAN	I	684	ENSP00000366620:S684I	ENSP00000366620:S684I	S	+	2	0	H6PD	9247190	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.360000	0.59455	1.432000	0.47375	-0.258000	0.10820	AGC		TCGA-IB-7651-01A-11D-2154-08	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	1	0	1	76	434	0	95	1	9.998730e-01	11	65	0	95	2		0	0	0	0	0	2	1	1	75	428	0	93	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.975757	0.970000	1	9.400000e-01	1
H6PD	9563	broad.mit.edu	37	1	9324735	9324735	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324735G>A	ENST00000377403.2	+	5	2485	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)			23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			CCACACCGCCGCATGAGCCTT	0.657000																								0							SO:0001583	missense			ENST00000377403.2	1	1	hg19	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883390	0.91740	.	.	ENSG00000049239	ENST00000377403	T	0.71579	-0.58	5.72	5.72	0.89469	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.047987	0.85682	D	0.000000	D	0.91284	0.7252	H	0.98951	4.38	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94410	0.7631	10	0.87932	D	0	-37.7311	18.8652	0.92289	0.0:0.0:1.0:0.0	.	728	O95479	G6PE_HUMAN	H	728	ENSP00000366620:R728H	ENSP00000366620:R728H	R	+	2	0	H6PD	9247322	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.340000	0.97038	2.709000	0.92574	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	1	0	1	32	221	0	58	1	9.986675e-01	3	70	0	58	2		0	0	0	0	0	2	1	1	26	170	0	26	2								-3.018331	1	1	121390	3	42	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.940000	0.760000	1.000000	0.990000	0.931297	0.940000	1	8.600000e-01	9.900000e-01
H6PD	9563	broad.mit.edu	37	1	9324884	9324884	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324884G>A	ENST00000377403.2	+	5	2634	c.2332G>A	c.(2332-2334)Ggc>Agc	p.G778S	H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)			23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			GCCGCACTCCGGCCAGCTGGT	0.647000																								0							SO:0001583	missense			ENST00000377403.2	1	1	hg19	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516153	0.64634	.	.	ENSG00000049239	ENST00000377403	D	0.98617	-5.03	5.73	5.73	0.89815	6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.99913	1.1211	10	0.72032	D	0.01	-39.1146	18.894	0.92416	0.0:0.0:1.0:0.0	.	778	O95479	G6PE_HUMAN	S	778	ENSP00000366620:G778S	ENSP00000366620:G778S	G	+	1	0	H6PD	9247471	1.000000	0.71417	0.935000	0.37517	0.006000	0.05464	7.600000	0.82769	2.716000	0.92895	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	1	0	0	18	228	0	35	1	9.936002e-01	6	100	0	35	2		0	0	0	0	0	2	1	9.999804e-01	18	221	0	33	2								-6.842856	1	1	121012	12	40	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.750000	0.470000	0.980000	0.760000	0.751406	0.750000	0	6.000000e-01	9.000000e-01
FAM69A	388650	broad.mit.edu	37	1	93341969	93341969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93341969G>A	ENST00000370310.4	-	2	143	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A			4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)			TATTTCATCCGCACATATGAG	0.383000																								0							SO:0001583	missense			ENST00000370310.4	1	1	hg19	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604616	0.87157	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.53423	0.62	5.59	4.66	0.58398	.	0.057952	0.64402	D	0.000002	T	0.54078	0.1836	L	0.52573	1.65	0.50467	D	0.999871	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.74674	0.849;0.849;0.984	T	0.61058	-0.7139	10	0.72032	D	0.01	-11.1064	15.6626	0.77199	0.0:0.0:0.8617:0.1383	.	18;25;25	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	W	25	ENSP00000359333:R25W	ENSP00000359333:R25W	R	-	1	2	FAM69A	93114557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.519000	0.81809	1.440000	0.47531	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	1	0	1	21	157	0	34	0	9.580492e-01	1	41	0	34	2		0	0	0	0	0	2	1	9.999975e-01	20	151	0	34	2								-3.222937	1	1	120812	2	31	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.910000	0.670000	1.000000	0.990000	0.896713	0.910000	1	8.000000e-01	9.800000e-01
MTF2	22823	broad.mit.edu	37	1	93586135	93586135	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93586135A>C	ENST00000370298.4	+	9	1116	c.827A>C	c.(826-828)aAc>aCc	p.N276T	MTF2_ENST00000471953.1_Intron|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T|MTF2_ENST00000370303.4_Missense_Mutation_p.N276T|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2			19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)			TGCCTTTACAACCTAAGTGTT	0.343000																								0							SO:0001583	missense			ENST00000370298.4	1	1	hg19	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710211	0.89018	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.83312	2.635	0.80722	D	1	P;D	0.56968	0.931;0.978	P;P	0.58013	0.766;0.831	T	0.21586	-1.0241	10	0.72032	D	0.01	-5.9945	16.2484	0.82467	1.0:0.0:0.0:0.0	.	276;276	B1AKT6;Q9Y483	.;MTF2_HUMAN	T	174;174;276;174;276	ENSP00000444962:N174T;ENSP00000443295:N174T;ENSP00000359321:N276T;ENSP00000359326:N276T	ENSP00000359321:N276T	N	+	2	0	MTF2	93358723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.057000	0.93889	2.291000	0.77112	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	0	0	1	60	263	0	57	1	9.916336e-01	5	30	0	57	2		0	0	0	0	0	2	1	1	59	259	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.900000	1.000000	0.990000	0.976283	0.970000	1	9.400000e-01	1
CCDC18	343099	broad.mit.edu	37	1	93701841	93701841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93701841G>A	ENST00000343253.7	+	19	2996	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000421014.2_Intron|CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18			42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)			AAAACAAAGGGAAAGTTCAGC	0.328000																								0							SO:0001583	missense			ENST00000343253.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469612	0.84533	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	T	0.69435	-0.4	4.57	4.57	0.56435	.	0.272209	0.34386	N	0.004008	T	0.58163	0.2103	N	0.22421	0.69	0.36801	D	0.885378	P;D	0.61697	0.939;0.99	P;P	0.57911	0.503;0.829	T	0.60146	-0.7320	10	0.36615	T	0.2	.	16.4239	0.83808	0.0:0.0:1.0:0.0	.	832;951	Q5T9S5;G3V388	CCD18_HUMAN;.	K	832;833;951;588;128;508	ENSP00000334084:E128K	ENSP00000334084:E128K	E	+	1	0	CCDC18	93474429	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.191000	0.72063	2.485000	0.83878	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	1	0	1	29	231	0	48	0	6.850340e-02	0	4	0	48	2		0	0	0	0	0	2	1	1	28	229	0	48	2								-12.324600	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.710000	1.000000	0.990000	0.909372	0.920000	1	8.200000e-01	9.800000e-01
FNBP1L	54874	broad.mit.edu	37	1	93998513	93998513	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998513A>C	ENST00000271234.7	+	8	825	c.674A>C	c.(673-675)aAa>aCa	p.K225T	FNBP1L_ENST00000370253.2_Missense_Mutation_p.K225T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000260506.8_Missense_Mutation_p.K225T	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like			11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)			AGGACTATTAAACTCAGTGAG	0.323000																								0							SO:0001583	missense			ENST00000271234.7	1	1	hg19	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595502	0.86953	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.63843	1.955	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.865	D;D;B	0.87578	0.994;0.998;0.408	T	0.03739	-1.1008	10	0.36615	T	0.2	-19.1227	15.7725	0.78180	1.0:0.0:0.0:0.0	.	45;225;225	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	T	225;225;225;225;92	ENSP00000359278:K225T;ENSP00000271234:K225T;ENSP00000260506:K225T;ENSP00000359275:K225T	ENSP00000260506:K225T	K	+	2	0	FNBP1L	93771101	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.678000	0.91211	2.131000	0.65755	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	16	128	0	29	1	9.998380e-01	22	102	0	29	2		0	0	0	0	0	2	1	9.999414e-01	16	125	0	29	2								-19.999960	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.610000	1.000000	0.990000	0.867219	0.880000	1	7.500000e-01	9.700000e-01
FNBP1L	54874	broad.mit.edu	37	1	93998540	93998540	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998540C>A	ENST00000271234.7	+	8	852	c.701C>A	c.(700-702)gCt>gAt	p.A234D	FNBP1L_ENST00000370253.2_Missense_Mutation_p.A234D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000260506.8_Missense_Mutation_p.A234D	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like			11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)			AGAGGATTTGCTGACTCAGAA	0.328000																								0							SO:0001583	missense			ENST00000271234.7	1	1	hg19	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115424	0.94339	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.87578	0.997;0.998;0.82	T	0.37150	-0.9718	10	0.72032	D	0.01	-25.113	19.8206	0.96591	0.0:1.0:0.0:0.0	.	54;234;234	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	D	234;234;234;234;101	ENSP00000359278:A234D;ENSP00000271234:A234D;ENSP00000260506:A234D;ENSP00000359275:A234D	ENSP00000260506:A234D	A	+	2	0	FNBP1L	93771128	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.252000	0.78309	2.686000	0.91538	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	17	143	0	34	1	9.998292e-01	23	105	0	34	2		0	0	0	0	0	2	1	9.999728e-01	17	142	0	34	2								-3.222322	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.880000	0.600000	1.000000	0.990000	0.863926	0.880000	1	7.500000e-01	9.700000e-01
BCAR3	8412	broad.mit.edu	37	1	94140364	94140364	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94140364G>T	ENST00000370244.1	-	4	411	c.123C>A	c.(121-123)gcC>gcA	p.A41A	BCAR3_ENST00000260502.6_Silent_p.A41A|BCAR3_ENST00000370243.1_Silent_p.A41A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3			25		all_lung(203;0.00145)|Lung NSC(277;0.00662)			CATCTTGATAGGCATCTGGGC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000370244.1	1	1	hg19	CCDS745.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1	1	0	1	48	157	0	42	1	9.940631e-01	10	19	0	42	2		0	0	0	0	0	2	1	1	46	156	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.975027	0.970000	1	9.400000e-01	1
SPSB1	80176	broad.mit.edu	37	1	9416403	9416403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416403C>T	ENST00000328089.6	+	2	794	c.453C>T	c.(451-453)caC>caT	p.H151H	SPSB1_ENST00000357898.3_Silent_p.H151H|SPSB1_ENST00000377399.2_Silent_p.H151H	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1			13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)			GGCTCTACCACGATGGCAAGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000328089.6	1	1	hg19	CCDS102.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	1	0	0	45	421	0	91	1	1	7	323	0	91	2		0	0	0	0	0	2	1	1	45	411	0	90	2								-14.572150	1	1	121412	18	44	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.910000	0.720000	1.000000	0.990000	0.904947	0.910000	1	8.200000e-01	9.800000e-01
SPSB1	80176	broad.mit.edu	37	1	9416645	9416645	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416645G>A	ENST00000328089.6	+	2	1035		c.e2+1		SPSB1_ENST00000357898.3_Splice_Site|SPSB1_ENST00000377399.2_Splice_Site	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1			13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)			GGACTCGATCGTAAGTGTCTC	0.532000																								0							SO:0001630	splice_region_variant			ENST00000328089.6	1	1	hg19	CCDS102.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531086	0.64972	.	.	ENSG00000171621	ENST00000328089;ENST00000357898;ENST00000377399	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5733	0.87941	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPSB1	9339232	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.799000	0.99117	2.397000	0.81536	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	1	0	0	14	260	0	66	1	2.773532e-02	5	0	0	66	2		0	0	0	0	0	2	1	9.997510e-01	14	256	0	65	2								-2.967585	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.540000	0.310000	0.830000	0.530000	0.562427	0.540000	0	4.100000e-01	7.000000e-01
DNTTIP2	30836	broad.mit.edu	37	1	94342258	94342258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94342258G>A	ENST00000436063.2	-	2	1290	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2			38		all_lung(203;0.0111)|Lung NSC(277;0.0347)			CACTGTTCATGTCTTCACTGA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000436063.2	1	1	hg19	CCDS44174.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	1	0	0	230	731	0	213	1	1	100	159	0	213	2		0	0	0	0	0	2	1	1	225	711	0	213	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.970000	1.000000	1.000000	0.996363	0.990000	1	9.800000e-01	1
GCLM	2730	broad.mit.edu	37	1	94354716	94354716	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94354716C>A	ENST00000370238.3	-	7	902		c.e7-1			NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit			10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		L-Cysteine(DB00151)	GAAAGCAGTTCTAAAAGAAAC	0.408000																								0							SO:0001630	splice_region_variant			ENST00000370238.3	0	1	hg19	CCDS746.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001447	0.54254	.	.	ENSG00000023909	ENST00000370238	.	.	.	5.33	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9411	0.64054	0.0:0.9264:0.0:0.0736	.	.	.	.	.	-1	.	.	.	-	.	.	GCLM	94127304	1.000000	0.71417	0.987000	0.45799	0.728000	0.41692	7.334000	0.79224	1.255000	0.44051	-0.229000	0.12294	.		TCGA-IB-7651-01A-11D-2154-08	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	0	0	0	13	100	0	24	1	1.188304e-01	4	1	0	24	2		0	0	0	0	0	2	1	9.996416e-01	13	100	0	24	2								-19.977060	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.870000	0.570000	1.000000	0.990000	0.855927	0.870000	1	7.300000e-01	9.700000e-01
ABCA4	24	broad.mit.edu	37	1	94471006	94471006	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94471006T>G	ENST00000370225.3	-	44	6224	c.6138A>C	c.(6136-6138)gaA>gaC	p.E2046D	ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4			147		all_lung(203;0.000757)|Lung NSC(277;0.00335)			CCTTTTCGATTTCTTCTGCTG	0.433000																								0							SO:0001583	missense			ENST00000370225.3	1	1	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	5.129	0.209488	0.09757	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.94376	-3.41;-3.41;-3.41	5.63	1.82	0.25136	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.153113	0.56097	D	0.000022	T	0.72112	0.3420	N	0.20766	0.605	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.17979	0.003;0.02	T	0.62618	-0.6816	10	0.12103	T	0.63	.	4.9251	0.13889	0.1166:0.0655:0.1216:0.6963	.	165;2046	B4DX12;P78363	.;ABCA4_HUMAN	D	838;2046;316;165	ENSP00000359245:E2046D;ENSP00000439707:E316D;ENSP00000443203:E165D	ENSP00000359245:E2046D	E	-	3	2	ABCA4	94243594	1.000000	0.71417	0.912000	0.35992	0.186000	0.23388	1.500000	0.35682	0.500000	0.27991	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	1	0	1	93	367	0	114	0	4.156736e-02	1	1	0	114	2		0	0	0	0	0	2	1	1	92	360	0	114	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986616	0.980000	1	9.600000e-01	1
ABCA4	24	broad.mit.edu	37	1	94512539	94512539	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94512539T>C	ENST00000370225.3	-	19	2940	c.2854A>G	c.(2854-2856)Acc>Gcc	p.T952A	ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4			147		all_lung(203;0.000757)|Lung NSC(277;0.00335)			TCGTAGAAGGTGATGTTCAGA	0.547000																								0							SO:0001583	missense			ENST00000370225.3	1	1	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682285	0.68042	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.94092	-3.35;-2.87	5.62	5.62	0.85841	ABC transporter-like (1);	0.193028	0.56097	D	0.000039	D	0.84120	0.5402	N	0.21142	0.635	0.28085	N	0.932033	B;B	0.33940	0.433;0.001	B;B	0.35182	0.197;0.006	T	0.82200	-0.0575	10	0.72032	D	0.01	.	15.8271	0.78718	0.0:0.0:0.0:1.0	.	878;952	F5H6E5;P78363	.;ABCA4_HUMAN	A	952;878	ENSP00000359245:T952A;ENSP00000437682:T878A	ENSP00000359245:T952A	T	-	1	0	ABCA4	94285127	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	6.148000	0.71788	2.149000	0.67028	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	0	0	0	89	799	2	224		0	0	0	2	224	2		0	0	0	0	0	2	1	1	87	784	1	220	15								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.820000	1.000000	0.990000	0.944263	0.950000	1	8.900000e-01	9.900000e-01
ABCA4	24	broad.mit.edu	37	1	94514490	94514490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94514490C>T	ENST00000370225.3	-	18	2763	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4			147		all_lung(203;0.000757)|Lung NSC(277;0.00335)			TTTTCCAGGGCTCTTTCTTCT	0.532000																								0							SO:0001583	missense			ENST00000370225.3	1	1	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178708	0.38511	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91792	-2.79;-2.91	5.35	4.42	0.53409	.	1.078010	0.07078	N	0.836569	D	0.87434	0.6176	L	0.36672	1.1	0.22940	N	0.998535	D;B	0.58268	0.982;0.001	P;B	0.55615	0.78;0.005	T	0.76719	-0.2856	10	0.20519	T	0.43	.	9.2755	0.37696	0.0:0.9035:0.0:0.0965	.	819;893	F5H6E5;P78363	.;ABCA4_HUMAN	T	893;819	ENSP00000359245:A893T;ENSP00000437682:A819T	ENSP00000359245:A893T	A	-	1	0	ABCA4	94287078	0.030000	0.19436	1.000000	0.80357	0.960000	0.62799	0.969000	0.29370	2.642000	0.89623	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	1	0	1	28	224	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	28	220	0	55	2								-12.216560	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.700000	1.000000	0.990000	0.906594	0.920000	1	8.200000e-01	9.800000e-01
ABCA4	24	broad.mit.edu	37	1	94522198	94522198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94522198C>T	ENST00000370225.3	-	15	2427	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4			147		all_lung(203;0.000757)|Lung NSC(277;0.00335)			TCCTGCCAGGCGAAGCACAGG	0.582000																								0							SO:0001583	missense			ENST00000370225.3	1	1	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	36	5.685822	0.96784	.	.	ENSG00000198691	ENST00000370225	T	0.77750	-1.12	5.36	5.36	0.76844	.	0.051999	0.85682	D	0.000000	T	0.70176	0.3194	M	0.64630	1.985	0.80722	D	1	B	0.34329	0.449	B	0.35470	0.203	T	0.70938	-0.4736	10	0.36615	T	0.2	.	19.4483	0.94857	0.0:1.0:0.0:0.0	.	781	P78363	ABCA4_HUMAN	T	781	ENSP00000359245:A781T	ENSP00000359245:A781T	A	-	1	0	ABCA4	94294786	0.995000	0.38212	0.996000	0.52242	0.986000	0.74619	3.270000	0.51600	2.673000	0.90976	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	1	0	1	25	124	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.999999e-01	25	121	0	43	2								-20.000000	1	1	121412	3	37	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.780000	1.000000	0.990000	0.939094	0.950000	1	8.700000e-01	9.900000e-01
ABCA4	24	broad.mit.edu	37	1	94528169	94528169	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94528169A>G	ENST00000370225.3	-	13	1987	c.1901T>C	c.(1900-1902)cTc>cCc	p.L634P	ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4			147		all_lung(203;0.000757)|Lung NSC(277;0.00335)			CATCTGCTGGAGGTAGATTCC	0.592000																								0							SO:0001583	missense			ENST00000370225.3	1	1	hg19	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537521	0.85917	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.89552	-2.53;-2.53	4.95	4.95	0.65309	.	0.167184	0.41823	D	0.000818	D	0.94006	0.8080	M	0.87827	2.91	0.80722	D	1	D;P	0.71674	0.998;0.596	D;B	0.72075	0.976;0.324	D	0.95079	0.8211	10	0.87932	D	0	.	14.7803	0.69760	1.0:0.0:0.0:0.0	.	634;634	F5H6E5;P78363	.;ABCA4_HUMAN	P	634	ENSP00000359245:L634P;ENSP00000437682:L634P	ENSP00000359245:L634P	L	-	2	0	ABCA4	94300757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.037000	0.93765	2.079000	0.62486	0.459000	0.35465	CTC		TCGA-IB-7651-01A-11D-2154-08	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	0	0	0	9	220	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	9.936458e-01	9	213	0	53	2								-11.007090	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.420000	0.210000	0.720000	0.410000	0.445851	0.420000	0	3.000000e-01	5.700000e-01
ARHGAP29	9411	broad.mit.edu	37	1	94639786	94639786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94639786C>T	ENST00000260526.6	-	23	3607	c.3425G>A	c.(3424-3426)cGg>cAg	p.R1142Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29			54		all_lung(203;0.000732)|Lung NSC(277;0.00328)			ATCTGAAGACCGTCTCTCAGA	0.498000																								0							SO:0001583	missense			ENST00000260526.6	1	1	hg19	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	9.637	1.137876	0.21123	.	.	ENSG00000137962	ENST00000260526	T	0.21734	1.99	5.49	4.58	0.56647	.	0.460547	0.16094	N	0.229933	T	0.06917	0.0176	L	0.43152	1.355	0.80722	D	1	B	0.18741	0.03	B	0.08055	0.003	T	0.10405	-1.0631	10	0.37606	T	0.19	-1.3531	4.8628	0.13592	0.0:0.5952:0.162:0.2428	.	1142	Q52LW3	RHG29_HUMAN	Q	1142	ENSP00000260526:R1142Q	ENSP00000260526:R1142Q	R	-	2	0	ARHGAP29	94412374	0.985000	0.35326	0.982000	0.44146	0.058000	0.15608	1.674000	0.37544	1.333000	0.45449	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	0	0	0	14	441	0	96	1	6.983278e-01	2	74	0	96	2		0	0	0	0	0	2	1	9.997387e-01	14	435	0	94	2								-2.390303	0	1	121412	6	42	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.330000	0.180000	0.520000	0.320000	0.345758	0.330000	0	2.500000e-01	4.300000e-01
ARHGAP29	9411	broad.mit.edu	37	1	94643259	94643259	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643259C>T	ENST00000260526.6	-	22	2996	c.2814G>A	c.(2812-2814)gaG>gaA	p.E938E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29			54		all_lung(203;0.000732)|Lung NSC(277;0.00328)			TGCTTTCACTCTCTGAAGTAT	0.333000																								0							SO:0001819	synonymous_variant			ENST00000260526.6	1	1	hg19	CCDS748.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	1	0	1	23	228	0	49	1	9.751517e-01	5	57	0	49	2		0	0	0	0	0	2	1	9.999995e-01	23	226	0	49	2								-2.744763	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.860000	0.600000	1.000000	0.950000	0.850676	0.860000	1	7.300000e-01	9.600000e-01
ARHGAP29	9411	broad.mit.edu	37	1	94643433	94643433	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643433T>A	ENST00000260526.6	-	21	2953	c.2771A>T	c.(2770-2772)aAg>aTg	p.K924M	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29			54		all_lung(203;0.000732)|Lung NSC(277;0.00328)			AAATAGTGACTTCATGGAACG	0.323000																								0							SO:0001583	missense			ENST00000260526.6	1	1	hg19	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283999	0.59867	.	.	ENSG00000137962	ENST00000260526	T	0.26660	1.72	5.55	5.55	0.83447	.	0.000000	0.40469	N	0.001092	T	0.37376	0.1001	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.17471	-1.0368	10	0.62326	D	0.03	-18.0172	16.008	0.80377	0.0:0.0:0.0:1.0	.	924;924	F8VWZ8;Q52LW3	.;RHG29_HUMAN	M	924	ENSP00000260526:K924M	ENSP00000260526:K924M	K	-	2	0	ARHGAP29	94416021	1.000000	0.71417	0.368000	0.25939	0.537000	0.34900	6.199000	0.72112	2.250000	0.74265	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	1	0	1	58	216	0	55	1	9.998254e-01	15	36	0	55	2		0	0	0	0	0	2	1	1	57	210	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.978087	0.980000	1	9.500000e-01	1
ARHGAP29	9411	broad.mit.edu	37	1	94668169	94668169	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94668169G>A	ENST00000260526.6	-	11	1256	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	ARHGAP29_ENST00000370217.3_Silent_p.G358G	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29			54		all_lung(203;0.000732)|Lung NSC(277;0.00328)			TTGCTAATCCGCCACTTGAAG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000260526.6	1	1	hg19	CCDS748.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	1	0	1	133	497	0	98	1	9.990929e-01	7	34	0	98	2		0	0	0	0	0	2	1	1	129	491	0	96	2								-3.952695	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.991690	0.990000	1	9.700000e-01	1
ARHGAP29	9411	broad.mit.edu	37	1	94670714	94670714	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94670714C>A	ENST00000260526.6	-	7	782	c.600G>T	c.(598-600)aaG>aaT	p.K200N	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29			54		all_lung(203;0.000732)|Lung NSC(277;0.00328)			AGTCAGTGTTCTTTAACAGCA	0.338000																								0							SO:0001583	missense			ENST00000260526.6	1	1	hg19	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615885	0.46631	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.23950	1.91;1.88	5.87	2.99	0.34606	.	0.000000	0.40385	N	0.001118	T	0.17789	0.0427	L	0.46157	1.445	0.35628	D	0.810027	P;B	0.51933	0.949;0.23	P;B	0.49192	0.602;0.131	T	0.03212	-1.1060	10	0.72032	D	0.01	-24.0817	11.4447	0.50116	0.0:0.7044:0.0:0.2956	.	200;200	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	N	200	ENSP00000260526:K200N;ENSP00000359237:K200N	ENSP00000260526:K200N	K	-	3	2	ARHGAP29	94443302	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.221000	0.32503	0.956000	0.37904	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	1	0	0	10	174	0	44	0	7.399221e-01	0	47	0	44	2		0	0	0	0	0	2	1	9.965975e-01	10	168	0	44	2								-13.130070	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.570000	0.300000	0.900000	0.560000	0.593115	0.570000	0	4.200000e-01	7.600000e-01
ABCD3	5825	broad.mit.edu	37	1	94955289	94955289	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94955289C>A	ENST00000370214.4	+	14	1190	c.1166C>A	c.(1165-1167)gCt>gAt	p.A389D	ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D|ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3			26		all_lung(203;0.000434)|Lung NSC(277;0.0019)			AGTTTTACTGCTCGGATTACA	0.313000																								0							SO:0001583	missense			ENST00000370214.4	1	1	hg19	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203575	0.79127	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.97710	-3.44;-4.5;-4.5;-4.5	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);	0.051119	0.85682	D	0.000000	D	0.98015	0.9346	M	0.66506	2.035	0.80722	D	1	P;D;P	0.63046	0.913;0.992;0.751	B;P;B	0.57101	0.382;0.813;0.382	D	0.98364	1.0550	10	0.72032	D	0.01	-15.5917	19.9326	0.97124	0.0:1.0:0.0:0.0	.	413;279;389	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	D	279;413;316;389	ENSP00000377780:A279D;ENSP00000403357:A413D;ENSP00000440692:A316D;ENSP00000359233:A389D	ENSP00000359233:A389D	A	+	2	0	ABCD3	94727877	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.720000	0.93068	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	1	0	1	39	120	0	35	1	1	39	72	0	35	2		0	0	0	0	0	2	1	1	40	119	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.969820	0.970000	1	9.300000e-01	1
ABCD3	5825	broad.mit.edu	37	1	94965137	94965137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94965137C>T	ENST00000370214.4	+	20	1731	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	ABCD3_ENST00000394233.2_Silent_p.D459D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.D593D|ABCD3_ENST00000536817.1_Silent_p.D496D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3			26		all_lung(203;0.000434)|Lung NSC(277;0.0019)			ATTGGATGGACGTACTCAGTG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000370214.4	1	1	hg19	CCDS749.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	1	0	1	45	337	0	82	1	9.999995e-01	35	130	0	82	2		0	0	0	0	0	2	1	1	45	331	0	81	2								-17.679390	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.950000	0.790000	1.000000	0.990000	0.940642	0.950000	1	8.800000e-01	9.900000e-01
CNN3	1266	broad.mit.edu	37	1	95363358	95363358	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95363358G>A	ENST00000370206.4	-	7	1313	c.930C>T	c.(928-930)ggC>ggT	p.G310G	CNN3_ENST00000538964.1_Silent_p.G310G|CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000394202.4_Silent_p.G264G|CNN3_ENST00000487539.1_5'Flank	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic			18		all_lung(203;0.00206)|Lung NSC(277;0.00948)			CCTGGTACTCGCCATGATACT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000370206.4	1	1	hg19	CCDS30775.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	1	0	0	48	699	0	194	1	1	5	552	0	194	2		0	0	0	0	0	2	1	1	48	680	0	194	2								-3.318791	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.680000	0.510000	0.880000	0.680000	0.694390	0.680000	0	5.900000e-01	7.900000e-01
CNN3	1266	broad.mit.edu	37	1	95369040	95369040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95369040C>T	ENST00000370206.4	-	2	481	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CNN3_ENST00000538964.1_Missense_Mutation_p.R33H|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000394202.4_Missense_Mutation_p.R33H|CNN3_ENST00000487539.1_5'Flank	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic			18		all_lung(203;0.00206)|Lung NSC(277;0.00948)			TATCCAATTGCGAAGATCTTC	0.458000																								0							SO:0001583	missense			ENST00000370206.4	1	1	hg19	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302712	0.81136	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	D;D;D	0.95137	-3.62;-3.62;-3.62	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.87758	2.905	0.80722	D	1	P;D	0.71674	0.877;0.998	B;D	0.80764	0.302;0.994	D	0.97032	0.9751	10	0.52906	T	0.07	-12.6225	20.1649	0.98147	0.0:1.0:0.0:0.0	.	33;33	F8WA86;Q15417	.;CNN3_HUMAN	H	33	ENSP00000359225:R33H;ENSP00000437665:R33H;ENSP00000377752:R33H	ENSP00000359225:R33H	R	-	2	0	CNN3	95141628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.753000	0.94483	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	1	0	1	71	291	0	72	1	1	52	497	0	72	2		0	0	0	0	0	2	1	1	68	288	0	72	2								-3.333602	1	1	121412	4	36	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981253	0.980000	1	9.500000e-01	1
TMEM201	199953	broad.mit.edu	37	1	9661306	9661306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661306G>A	ENST00000340381.6	+	5	759	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340305.5_Silent_p.L250L	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201			4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)			CCCTGGCCCTGCCACCTGGTG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000340381.6	1	1	hg19	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223772	0.22457	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	4.06	0.47325	.	.	.	.	.	T	0.60117	0.2244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56932	-0.7897	4	.	.	.	-15.5829	9.92	0.41459	0.0961:0.0:0.9039:0.0	.	.	.	.	T	160	.	.	A	+	1	0	TMEM201	9583893	0.988000	0.35896	0.999000	0.59377	0.943000	0.58893	1.617000	0.36943	1.069000	0.40788	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	1	0	0	20	374	0	67	1	4.363811e-01	3	25	0	67	2		0	0	0	0	0	2	1	9.999950e-01	19	370	0	67	2								-19.978280	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.540000	0.340000	0.790000	0.530000	0.556415	0.540000	0	4.300000e-01	6.700000e-01
TMEM201	199953	broad.mit.edu	37	1	9661466	9661466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661466G>A	ENST00000340381.6	+	5	919	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S|TMEM201_ENST00000340305.5_Missense_Mutation_p.G304S	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201			4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)			CGTGGCACTGGGCCTACTCAC	0.672000																								0							SO:0001583	missense			ENST00000340381.6	1	1	hg19	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.031350|4.031350	0.75504|0.75504	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67002|0.67002	0.2847|0.2847	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999974|0.999974	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.70432|0.70432	-0.4873|-0.4873	6|9	.|0.72032	.|D	.|0.01	-37.3398|-37.3398	14.3284|14.3284	0.66534|0.66534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|304;304	.|E9PBR6;Q5SNT2-2	.|.;.	E|S	213|304	.|.	.|ENSP00000344772:G304S	G|G	+|+	2|1	0|0	TMEM201|TMEM201	9584053|9584053	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.379000|0.379000	0.30106|0.30106	6.604000|6.604000	0.74150|0.74150	2.160000|2.160000	0.67779|0.67779	0.563000|0.563000	0.77884|0.77884	GGG|GGC		TCGA-IB-7651-01A-11D-2154-08	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	1	0	0	16	364	0	73	0	4.803746e-02	0	8	0	73	2		0	0	0	0	0	2	1	9.999268e-01	17	356	0	73	2								-16.521900	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.450000	0.270000	0.680000	0.440000	0.466748	0.450000	0	3.500000e-01	5.700000e-01
PTBP2	58155	broad.mit.edu	37	1	97217025	97217025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97217025G>A	ENST00000426398.2	+	3	127	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000609116.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2			26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)			TCAGTAGTCCGAACTCTAATA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000426398.2	1	1	hg19	CCDS754.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1	1	0	1	170	636	0	178	1	7.936858e-01	4	9	0	178	2		0	0	0	0	0	2	1	1	169	631	0	176	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.993925	0.990000	1	9.800000e-01	1
DPYD	1806	broad.mit.edu	37	1	97564175	97564175	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97564175A>G	ENST00000370192.3	-	21	2736	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase			83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATAAGGTCCAAAACTTGGCAG	0.323000																								0							SO:0001583	missense			ENST00000370192.3	1	1	hg19	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197189	0.79015	.	.	ENSG00000188641	ENST00000370192	D	0.89810	-2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95432	0.8517	10	0.87932	D	0	-20.0261	14.7536	0.69546	1.0:0.0:0.0:0.0	.	879	Q12882	DPYD_HUMAN	S	879	ENSP00000359211:F879S	ENSP00000359211:F879S	F	-	2	0	DPYD	97336763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.399000	0.73248	2.285000	0.76669	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	1	0	1	31	193	0	31	1	9.999999e-01	16	154	0	31	2		0	0	0	0	0	2	1	1	30	188	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.937799	0.940000	1	8.700000e-01	9.900000e-01
PIK3CD	5293	broad.mit.edu	37	1	9776551	9776551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9776551C>T	ENST00000377346.4	+	6	849	c.654C>T	c.(652-654)gcC>gcT	p.A218A	PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Silent_p.A218A|PIK3CD_ENST00000536656.1_Silent_p.A218A	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta			31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		Caffeine(DB00201)	CGCTGATGGCCTGTGCCCTGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000377346.4	1	1	hg19	CCDS104.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	1	0	0	19	199	0	43	0	4.891799e-01	0	18	0	43	2		0	0	0	0	0	2	1	9.999913e-01	18	196	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.830000	0.550000	0.990000	0.900000	0.822525	0.830000	0	6.900000e-01	9.500000e-01
DPYD	1806	broad.mit.edu	37	1	97771751	97771751	+	Missense_Mutation	SNP	C	C	T	rs145548112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97771751C>T	ENST00000370192.3	-	17	2261	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase			83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GCAGCTCTTGCGATGCTCACA	0.458000																								0							SO:0001583	missense			ENST00000370192.3	1	1	hg19	CCDS30777.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.3	4.622629	0.87460	0.0	1.16E-4	ENSG00000188641	ENST00000370192	T	0.81078	-1.45	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.94092	0.8106	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95223	0.8335	10	0.87932	D	0	-19.2961	20.6721	0.99693	0.0:1.0:0.0:0.0	.	721	Q12882	DPYD_HUMAN	T	721	ENSP00000359211:A721T	ENSP00000359211:A721T	A	-	1	0	DPYD	97544339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.458000	0.80787	2.894000	0.99253	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	1	0	0	210	799	0	278	1	1	18	116	0	278	2		0	0	0	0	0	2	1	1	208	783	0	276	2								-20.000000	1	1	121412	15	48	1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.990000	0.970000	1.000000	1.000000	0.995332	0.990000	1	9.800000e-01	1
PIK3CD	5293	broad.mit.edu	37	1	9780047	9780047	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780047C>T	ENST00000377346.4	+	10	1506	c.1311C>T	c.(1309-1311)cgC>cgT	p.R437R	PIK3CD_ENST00000543390.1_Silent_p.R104R|PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000536656.1_Silent_p.R402R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta			31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		Caffeine(DB00201)	CCGGGGAACGCTGCCTCTACA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000377346.4	1	1	hg19	CCDS104.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	1	0	1	158	708	0	200	1	9.277461e-01	4	18	0	200	2		0	0	0	0	0	2	1	1	153	700	0	199	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992142	0.990000	1	9.700000e-01	1
PIK3CD	5293	broad.mit.edu	37	1	9780912	9780912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780912C>T	ENST00000377346.4	+	13	1829	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000536656.1_Missense_Mutation_p.A569V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta			31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		Caffeine(DB00201)	TTCCCGGAGGCGCTAGCCCGG	0.667000																								0							SO:0001583	missense			ENST00000377346.4	0	1	hg19	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515702	0.27123	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.43	4.52	0.55395	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.237329	0.42172	D	0.000748	T	0.68063	0.2960	M	0.71206	2.165	0.32002	N	0.603162	B;P;P	0.43885	0.069;0.82;0.683	B;B;B	0.43082	0.045;0.336;0.407	T	0.75572	-0.3271	10	0.41790	T	0.15	-16.7881	14.1326	0.65266	0.0:0.927:0.0:0.073	.	544;569;545	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	569;545;569;569;212	ENSP00000446444:A569V;ENSP00000366563:A545V;ENSP00000354410:A569V;ENSP00000443811:A212V	ENSP00000353766:A569V	A	+	2	0	PIK3CD	9703499	1.000000	0.71417	0.929000	0.37066	0.008000	0.06430	3.927000	0.56499	1.299000	0.44798	0.505000	0.49811	GCG		TCGA-IB-7651-01A-11D-2154-08	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	1	0	0	11	80	0	13	1	8.323000e-01	5	21	0	13	2		0	0	0	0	0	2	1	9.985986e-01	11	79	0	13	2								-18.360180	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.870000	0.550000	1.000000	0.990000	0.848714	0.870000	1	7.200000e-01	9.700000e-01
PIK3CD	5293	broad.mit.edu	37	1	9782362	9782362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9782362C>T	ENST00000377346.4	+	18	2490	c.2295C>T	c.(2293-2295)aaC>aaT	p.N765N	PIK3CD_ENST00000361110.2_Silent_p.N789N|PIK3CD_ENST00000536656.1_Silent_p.N789N	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta			31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		Caffeine(DB00201)	TGTACAGCAACGAGGAGGCAG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000377346.4	0	1	hg19	CCDS104.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	0	0	0	5	111	0	20	0	4.057563e-01	0	28	0	20	2		0	0	0	0	0	2	1	9.330538e-01	5	107	0	18	2								-4.170553	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.460000	0.180000	0.860000	0.430000	0.493313	0.460000	0	3.000000e-01	6.700000e-01
CLSTN1	22883	broad.mit.edu	37	1	9790629	9790629	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9790629G>A	ENST00000377298.4	-	19	3675	c.2883C>T	c.(2881-2883)ggC>ggT	p.G961G	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_Silent_p.G942G|CLSTN1_ENST00000361311.4_Silent_p.G951G	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1			36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			TCTGGGGGTCGCCCTGCTCCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000377298.4	1	1	hg19	CCDS30580.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1	0	0	1	15	412	0	70	1	9.999990e-01	65	674	0	70	2		0	0	0	0	0	2	1	9.998385e-01	14	398	0	70	2								-3.625066	1	1	121412	3	35	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.370000	0.220000	0.580000	0.370000	0.392318	0.370000	0	2.900000e-01	4.800000e-01
AGRN	375790	broad.mit.edu	37	1	979372	979372	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:979372C>T	ENST00000379370.2	+	10	2018	c.1968C>T	c.(1966-1968)atC>atT	p.I656I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin			42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			AGACACAGATCGAGGAGGCCC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000379370.2	0	1	hg19	CCDS30551.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	1	0	0	13	116	0	18	1	9.999934e-01	49	169	0	18	2		0	0	0	0	0	2	1	9.995631e-01	13	113	0	18	2								-19.699580	1	1	120384	2	40	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.840000	0.540000	1.000000	0.990000	0.831803	0.840000	0	6.900000e-01	9.600000e-01
AGRN	375790	broad.mit.edu	37	1	989173	989173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989173C>T	ENST00000379370.2	+	34	5742	c.5692C>T	c.(5692-5694)Cgc>Tgc	p.R1898C	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin			42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			ACTGAGCCTGCGCACTGAGGC	0.642000																								0							SO:0001583	missense			ENST00000379370.2	0	1	hg19	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.013379|2.013379	0.35511|0.35511	.|.	.|.	ENSG00000188157|ENSG00000188157	ENST00000419249|ENST00000379370;ENST00000379364	.|D	.|0.84516	.|-1.86	3.95|3.95	3.0|3.0	0.34707|0.34707	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.|0.207151	.|0.27008	.|N	.|0.021390	D|D	0.90837|0.90837	0.7122|0.7122	M|M	0.86268|0.86268	2.805|2.805	0.53688|0.53688	D|D	0.999971|0.999971	.|D	.|0.89917	.|1.0	.|D	.|0.70935	.|0.971	D|D	0.89568|0.89568	0.3811|0.3811	5|10	.|0.87932	.|D	.|0	-29.3102|-29.3102	6.6032|6.6032	0.22712|0.22712	0.3673:0.4808:0.1519:0.0|0.3673:0.4808:0.1519:0.0	.|.	.|1898	.|O00468	.|AGRIN_HUMAN	V|C	219|1898;260	.|ENSP00000368678:R1898C	.|ENSP00000368671:R260C	A|R	+|+	2|1	0|0	AGRN|AGRN	979036|979036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.307000|0.307000	0.27823|0.27823	3.690000|3.690000	0.54713|0.54713	0.831000|0.831000	0.34780|0.34780	0.462000|0.462000	0.41574|0.41574	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	1	0	1	7	67	0	20	1	1	168	775	0	20	2		0	0	0	0	0	2	1	9.823772e-01	7	67	0	19	2								-12.435450	1	0	121146	5	36	1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.780000	0.400000	0.990000	0.920000	0.763406	0.780000	0	5.800000e-01	9.300000e-01
AGRN	375790	broad.mit.edu	37	1	989228	989228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989228C>T	ENST00000379370.2	+	34	5797	c.5747C>T	c.(5746-5748)gCa>gTa	p.A1916V	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin			42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			ACGGAGCGGGCAGACTATGTG	0.642000																								0							SO:0001583	missense			ENST00000379370.2	1	1	hg19	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150289	0.57151	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.79653	-1.29	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.184656	0.35151	N	0.003403	T	0.78761	0.4334	L	0.29908	0.895	0.50039	D	0.99984	P	0.47253	0.892	P	0.51055	0.657	T	0.77446	-0.2585	10	0.30078	T	0.28	-7.4485	16.7343	0.85443	0.0:1.0:0.0:0.0	.	1916	O00468	AGRIN_HUMAN	V	1916;278	ENSP00000368678:A1916V	ENSP00000368671:A278V	A	+	2	0	AGRN	979091	1.000000	0.71417	0.574000	0.28523	0.013000	0.08279	7.574000	0.82434	2.042000	0.60477	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	1	0	1	15	55	0	21	1	1	514	704	0	21	2		0	0	0	0	0	2	1	9.999258e-01	15	54	0	21	2								-20.000000	1	0	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.930000	0.720000	1.000000	0.990000	0.920087	0.930000	1	8.400000e-01	9.900000e-01
SNX7	51375	broad.mit.edu	37	1	99161105	99161105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161105G>T	ENST00000306121.3	+	5	680	c.671G>T	c.(670-672)gGc>gTc	p.G224V	SNX7_ENST00000529992.1_Missense_Mutation_p.G169V|SNX7_ENST00000370189.5_Missense_Mutation_p.G160V	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7			13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)			CAAGGTCCTGGCTTGCTAAGC	0.408000																								0							SO:0001583	missense			ENST00000306121.3	1	1	hg19	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087998	0.76642	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.38722	1.23;1.88;1.12	5.66	5.66	0.87406	.	0.340418	0.35013	N	0.003511	T	0.60209	0.2251	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.981;0.974	T	0.60296	-0.7291	10	0.66056	D	0.02	-34.4901	20.1041	0.97884	0.0:0.0:1.0:0.0	.	169;224;160	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	V	160;169;224	ENSP00000359208:G160V;ENSP00000434731:G169V;ENSP00000304429:G224V	ENSP00000304429:G224V	G	+	2	0	SNX7	98933693	1.000000	0.71417	0.917000	0.36280	0.399000	0.30720	9.778000	0.99011	2.826000	0.97356	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2	1	0	1	23	294	0	82	1	9.984445e-01	26	106	0	82	2		0	0	0	0	0	2	1	9.999993e-01	22	286	0	82	2								-7.247670	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.750000	0.500000	0.970000	0.760000	0.757199	0.750000	0	6.200000e-01	8.900000e-01
SNX7	51375	broad.mit.edu	37	1	99161198	99161198	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161198A>C	ENST00000306121.3	+	5	773	c.764A>C	c.(763-765)aAc>aCc	p.N255T	SNX7_ENST00000529992.1_Missense_Mutation_p.N200T|SNX7_ENST00000370189.5_Missense_Mutation_p.N191T	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7			13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)			GAAATGAATAACTTTATTGAA	0.383000																								0							SO:0001583	missense			ENST00000306121.3	1	1	hg19	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275549	0.40294	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.21031	2.03;2.03;2.03	5.65	3.29	0.37713	.	0.577696	0.20020	N	0.100928	T	0.04227	0.0117	N	0.14661	0.345	0.27522	N	0.951357	B;B;B	0.31351	0.32;0.217;0.053	B;B;B	0.34991	0.193;0.138;0.062	T	0.40572	-0.9556	10	0.26408	T	0.33	-8.4051	8.6247	0.33881	0.8021:0.1305:0.0674:0.0	.	200;255;191	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	T	191;200;255	ENSP00000359208:N191T;ENSP00000434731:N200T;ENSP00000304429:N255T	ENSP00000304429:N255T	N	+	2	0	SNX7	98933786	0.991000	0.36638	0.988000	0.46212	0.884000	0.51177	3.117000	0.50407	0.483000	0.27608	-0.323000	0.08544	AAC		TCGA-IB-7651-01A-11D-2154-08	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2	1	0	1	67	269	0	85	1	9.999997e-01	37	55	0	85	2		0	0	0	0	0	2	1	1	67	268	0	84	2								-20.000000	1	0	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980314	0.980000	1	9.500000e-01	1
LPPR5	0	broad.mit.edu	37	1	99470004	99470004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99470004A>G	ENST00000263177.4	-	1	445	c.224T>C	c.(223-225)gTc>gCc	p.V75A	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'UTR|LPPR5_ENST00000370188.3_Missense_Mutation_p.V75A	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN									GAGCACGGGGACCCCGGCGGC	0.726000																								0							SO:0001583	missense			ENST00000263177.4	0	1	hg19	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447927	0.63178	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.30981	1.51;1.51	5.17	4.0	0.46444	.	0.124209	0.53938	D	0.000055	T	0.09992	0.0245	N	0.21583	0.68	0.44061	D	0.996809	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.04855	-1.0922	10	0.56958	D	0.05	.	10.9157	0.47135	0.8422:0.1578:0.0:0.0	.	75;75	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	A	75	ENSP00000359207:V75A;ENSP00000263177:V75A	ENSP00000263177:V75A	V	-	2	0	AL161744.1	99242592	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.053000	0.93860	0.750000	0.32877	0.459000	0.35465	GTC		TCGA-IB-7651-01A-11D-2154-08	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1	0	0	0	10	91	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.973644e-01	10	91	0	19	2								-19.924180	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.820000	0.480000	0.990000	0.990000	0.805526	0.820000	0	6.500000e-01	9.500000e-01
LPPR4	0	broad.mit.edu	37	1	99771377	99771377	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771377G>A	ENST00000370185.3	+	7	1600	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E|LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN				72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)			AGCAGTGATGGAATTGCTCAT	0.448000																								0							SO:0001583	missense			ENST00000370185.3	1	1	hg19	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.584365	0.00872	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.20069	2.68;2.71;2.1	5.62	5.62	0.85841	.	1.058360	0.07212	N	0.859466	T	0.10937	0.0267	N	0.12182	0.205	0.44562	D	0.997521	P;B	0.49783	0.928;0.276	P;B	0.47573	0.55;0.142	T	0.19160	-1.0314	9	.	.	.	-21.9674	15.9536	0.79861	0.0:0.1349:0.8651:0.0	.	310;368	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	E	368;310;368;210	ENSP00000359204:G368E;ENSP00000394913:G310E;ENSP00000359203:G210E	.	G	+	2	0	RP4-788L13.1	99543965	1.000000	0.71417	0.997000	0.53966	0.152000	0.21847	5.988000	0.70579	2.633000	0.89246	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	1	0	0	45	408	0	108	0	2.296524e-01	0	9	0	108	2		0	0	0	0	0	2	1	1	45	399	0	108	2								-3.221883	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.920000	0.730000	1.000000	0.990000	0.911979	0.920000	1	8.300000e-01	9.800000e-01
LPPR4	0	broad.mit.edu	37	1	99771527	99771527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771527C>T	ENST00000370185.3	+	7	1750	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN				72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)			AATACCTTGCCGCGAGCCAAT	0.498000																								0							SO:0001583	missense			ENST00000370185.3	1	1	hg19	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996051	0.54147	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.70869	0.15;-0.52;-0.34	5.71	5.71	0.89125	.	0.272209	0.42682	D	0.000671	T	0.80954	0.4723	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.78570	-0.2153	9	.	.	.	-20.7641	19.8478	0.96722	0.0:1.0:0.0:0.0	.	360;418	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	418;360;418;260	ENSP00000359204:P418L;ENSP00000394913:P360L;ENSP00000359203:P260L	.	P	+	2	0	RP4-788L13.1	99544115	1.000000	0.71417	0.950000	0.38849	0.185000	0.23345	7.212000	0.77941	2.685000	0.91497	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	1	0	0	61	248	1	67	0	6.813580e-01	0	17	1	67	3		0	0	0	0	0	2	1	1	61	240	1	65	16								-3.600584	1	1	0	0		1	0	1	1	1.827221	1	0.170000	2.060000	9.289617e-02	0.980000	0.900000	1.000000	0.990000	0.977993	0.980000	1	9.500000e-01	1
LZIC	84328	broad.mit.edu	37	1	9990509	9990509	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9990509C>A	ENST00000377223.1	-	8	768	c.521G>T	c.(520-522)gGa>gTa	p.G174V	LZIC_ENST00000541052.1_Missense_Mutation_p.G195V|LZIC_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000400903.2_Missense_Mutation_p.G174V	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing			7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)			AATTTTGTCTCCAGAGCCTAA	0.313000																								0							SO:0001583	missense			ENST00000377223.1	1	1	hg19	CCDS107.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381272	0.61845	.	.	ENSG00000162441	ENST00000377223;ENST00000400903;ENST00000541052;ENST00000377213	T;T;T;T	0.47869	0.87;0.87;0.83;0.87	5.58	5.58	0.84498	.	0.048348	0.85682	D	0.000000	T	0.54431	0.1858	L	0.49778	1.585	0.80722	D	1	P;P	0.39352	0.669;0.64	P;B	0.46419	0.516;0.38	T	0.44003	-0.9356	9	.	.	.	-14.9036	19.922	0.97089	0.0:1.0:0.0:0.0	.	195;174	B4E2N0;Q8WZA0	.;LZIC_HUMAN	V	174;174;195;174	ENSP00000366430:G174V;ENSP00000383695:G174V;ENSP00000437432:G195V;ENSP00000366418:G174V	.	G	-	2	0	LZIC	9913096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.848000	0.62874	2.780000	0.95670	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	0	0	0	34	871	0	225	0	7.174760e-01	1	65	0	225	2		0	0	0	0	0	2	1	1	34	854	0	225	2								-2.987576	1	1	0	0		1	0	1	1	1.838767	1	0.170000	2.060000	9.289617e-02	0.400000	0.280000	0.540000	0.400000	0.410918	0.400000	0	3.300000e-01	4.800000e-01
JAG1	182	broad.mit.edu	37	20	10620604	10620604	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10620604C>A	ENST00000254958.5	-	26	3715		c.e26-1		JAG1_ENST00000423891.2_Splice_Site	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1			44					ACAAGGAAATCTGTAAGGCAG	0.488000									Alagille Syndrome															0							SO:0001630	splice_region_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	ENST00000254958.5	1	1	hg19	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094210	0.56075	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0887	0.97806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAG1	10568604	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.825000	0.97269	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	27	132	0	40	1	6.739799e-01	12	1	0	40	2		0	0	0	0	0	2	1	1	26	128	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
JAG1	182	broad.mit.edu	37	20	10621489	10621489	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10621489C>T	ENST00000254958.5	-	25	3656	c.3141G>A	c.(3139-3141)tcG>tcA	p.S1047S	JAG1_ENST00000423891.2_Silent_p.S888S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1			44					CAGCAATCAGCGAGCTGTTTC	0.448000									Alagille Syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	ENST00000254958.5	1	1	hg19	CCDS13112.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	77	295	0	66	1	1	141	175	0	66	2		0	0	0	0	0	2	1	1	75	291	0	65	2								-3.775232	1	1	121412	13	41	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMF1	9491	broad.mit.edu	37	20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)			13					CCTCAGGCCTCGGAGAGGTGG	0.552000																								0							SO:0001583	missense			ENST00000335877.6	1	1	hg19	CCDS13010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477537|3.477537	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000125818|ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768|ENST00000435720	T;T;T;T;T|.	0.48836|.	1.45;0.8;1.45;1.45;0.85|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.135451|.	0.49916|.	D|.	0.000136|.	T|T	0.70116|0.70116	0.3187|0.3187	L|L	0.50333|0.50333	1.59|1.59	0.43347|0.43347	D|D	0.995403|0.995403	D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.998;0.998|.	P;P;P;P;P|.	0.60609|.	0.828;0.736;0.877;0.828;0.745|.	T|T	0.64939|0.64939	-0.6289|-0.6289	10|5	0.66056|.	D|.	0.02|.	-3.1599|-3.1599	18.1736|18.1736	0.89754|0.89754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;116;116;204;204|.	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530|.	.;.;.;.;PSMF1_HUMAN|.	W|L	204;116;98;204;204;142|45	ENSP00000327704:R204W;ENSP00000371323:R116W;ENSP00000246015:R204W;ENSP00000338039:R204W;ENSP00000401404:R142W|.	ENSP00000246015:R204W|.	R|S	+|+	1|2	2|0	PSMF1|PSMF1	1092966|1092966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.376000|0.376000	0.30014|0.30014	2.633000|2.633000	0.46519|0.46519	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CGG|TCG		TCGA-IB-7651-01A-11D-2154-08	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	1	0	1	264	1193	0	284	1	1	183	469	0	284	2		0	0	0	0	0	2	1	1	257	1166	0	283	2								-20.000000	1	1	121412	2	41	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNPH	9751	broad.mit.edu	37	20	1286372	1286372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1286372C>T	ENST00000381873.3	+	6	1395	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	SNPH_ENST00000381867.1_Missense_Mutation_p.R431W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin			23					CACCCCACAGCGGCCTGGTGC	0.657000																								0							SO:0001583	missense			ENST00000381873.3	1	1	hg19	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459210	0.43634	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.95	3.96	0.45880	.	1.804140	0.02557	N	0.096337	T	0.20251	0.0487	N	0.14661	0.345	0.18873	N	0.999989	D;P	0.54772	0.968;0.947	B;B	0.40101	0.319;0.319	T	0.18493	-1.0335	9	0.72032	D	0.01	-1.9986	5.3483	0.16022	0.1378:0.6267:0.15:0.0855	.	431;387	O15079-2;O15079	.;SNPH_HUMAN	W	387;431	.	ENSP00000371291:R431W	R	+	1	2	SNPH	1234372	0.000000	0.05858	0.225000	0.23894	0.954000	0.61252	0.420000	0.21263	2.572000	0.86782	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	1	0	1	34	122	0	27	0	2.163568e-01	0	4	0	27	2		0	0	0	0	0	2	1	1	34	122	0	26	2								-20.000000	1	1	121286	7	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTLC3	55304	broad.mit.edu	37	20	13140662	13140662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140662G>A	ENST00000399002.2	+	11	1702	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3			25					CTTTTGCAAGGCATATGCTAG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000399002.2	1	1	hg19	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663322	0.14710	.	.	ENSG00000172296	ENST00000431275	.	.	.	5.84	-2.71	0.05986	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57985	-0.7716	4	.	.	.	-19.6967	12.6826	0.56930	0.7065:0.0:0.2935:0.0	.	.	.	.	D	74	.	.	G	+	2	0	SPTLC3	13088662	0.246000	0.23909	0.499000	0.27577	0.783000	0.44284	-0.119000	0.10676	-0.325000	0.08577	-0.768000	0.03414	GGC		TCGA-IB-7651-01A-11D-2154-08	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	1	0	1	84	433	0	121	0	5.567896e-01	1	10	0	121	2		0	0	0	0	0	2	1	1	84	419	0	119	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTLC3	55304	broad.mit.edu	37	20	13140767	13140767	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140767G>T	ENST00000399002.2	+	11	1807	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3			25					ATACCCGGGAGATGTTAGACA	0.522000																								0							SO:0001583	missense			ENST00000399002.2	0	1	hg19	CCDS13115.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748193|2.748193	0.49257|0.49257	.|.	.|.	ENSG00000172296|ENSG00000172296	ENST00000399002|ENST00000431275	D|.	0.95690|.	-3.78|.	5.77|5.77	2.32|2.32	0.28847|0.28847	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.144611|.	0.64402|.	D|.	0.000009|.	T|T	0.57770|0.57770	0.2076|0.2076	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B|.	0.30664|.	0.289|.	B|.	0.40477|.	0.33|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.51188|.	T|.	0.08|.	-18.9757|-18.9757	6.9744|6.9744	0.24666|0.24666	0.2129:0.0:0.6567:0.1303|0.2129:0.0:0.6567:0.1303	.|.	511|.	Q9NUV7|.	SPTC3_HUMAN|.	D|I	511|109	ENSP00000381968:E511D|.	ENSP00000381968:E511D|.	E|R	+|+	3|2	2|0	SPTLC3|SPTLC3	13088767|13088767	1.000000|1.000000	0.71417|0.71417	0.281000|0.281000	0.24762|0.24762	0.942000|0.942000	0.58702|0.58702	1.695000|1.695000	0.37763|0.37763	0.780000|0.780000	0.33566|0.33566	0.655000|0.655000	0.94253|0.94253	GAG|AGA		TCGA-IB-7651-01A-11D-2154-08	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	0	0	0	7	350	0	74	0	2.164627e-02	0	10	0	74	2		0	0	0	0	0	2	1	9.800697e-01	7	346	0	74	2								-7.252917	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.250000	0.100000	1.000000	0.230000	0.294768	0.250000	0	1.600000e-01	3.700000e-01
ISM1	140862	broad.mit.edu	37	20	13279702	13279702	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13279702G>A	ENST00000262487.4	+	6	997	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor			17					CACTGAGGTGGCCTACAGCAC	0.582000																								0							SO:0001583	missense			ENST00000262487.4	1	1	hg19	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491755	0.84962	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.48201	0.82;0.83	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61969	-0.6953	10	0.59425	D	0.04	-24.2273	20.2133	0.98290	0.0:0.0:1.0:0.0	.	331	B1AKI9	ISM1_HUMAN	T	331;285	ENSP00000262487:A331T;ENSP00000409938:A285T	ENSP00000262487:A331T	A	+	1	0	ISM1	13227702	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.822000	0.99363	2.786000	0.95864	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2	1	0	1	30	103	0	30	0	1	0	151	0	30	2		0	0	0	0	0	2	1	1	30	99	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FKBP1A	2280	broad.mit.edu	37	20	1352850	1352850	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1352850G>T	ENST00000400137.4	-	4	396	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	FKBP1A_ENST00000460490.1_5'Flank|SDCBP2-AS1_ENST00000609470.1_RNA|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y|SDCBP2-AS1_ENST00000609285.1_RNA|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y|FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa			3				Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ATAATCTGGAGATATAGTCAG	0.488000																								0							SO:0001583	missense			ENST00000400137.4	1	1	hg19	CCDS13014.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760296	0.89932	.	.	ENSG00000088832	ENST00000400137;ENST00000381724;ENST00000381719;ENST00000381715;ENST00000439640	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.8	4.8	0.61643	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.64402	D	0.000015	T	0.65913	0.2737	.	.	.	0.58432	D	0.999998	D;D	0.61080	0.976;0.989	D;D	0.67548	0.937;0.952	T	0.70626	-0.4820	9	0.87932	D	0	.	18.4089	0.90545	0.0:0.0:1.0:0.0	.	62;78	Q1JUQ5;P62942	.;FKB1A_HUMAN	Y	78;73;78;73;62	ENSP00000383003:S78Y;ENSP00000371143:S73Y;ENSP00000371138:S78Y;ENSP00000371134:S73Y;ENSP00000409863:S62Y	ENSP00000371134:S73Y	S	-	2	0	FKBP1A	1300850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.493000	0.97960	2.661000	0.90470	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077534.2	1	0	1	55	254	0	63	1	1	105	530	0	63	2		0	0	0	0	0	2	1	1	55	250	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TASP1	55617	broad.mit.edu	37	20	13561576	13561576	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13561576C>A	ENST00000337743.4	-	6	576	c.456G>T	c.(454-456)aaG>aaT	p.K152N	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1			31					AGAGCTTGCCCTTCTGCCCTT	0.423000																								0							SO:0001583	missense			ENST00000337743.4	1	1	hg19	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056304	0.36277	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.93307	-3.2;-2.97	5.73	3.79	0.43588	.	0.041485	0.85682	D	0.000000	D	0.86887	0.6041	L	0.29908	0.895	0.80722	D	1	B;B	0.24132	0.098;0.061	B;B	0.25759	0.046;0.063	T	0.81477	-0.0915	10	0.30854	T	0.27	-13.0612	7.8134	0.29245	0.0:0.661:0.0:0.339	.	152;129	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	N	129;152;129	ENSP00000338624:K152N;ENSP00000400580:K129N	ENSP00000338624:K152N	K	-	3	2	TASP1	13509576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.268000	0.33062	1.413000	0.46997	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	0	0	0	12	467	0	100	1	3.410533e-01	3	42	0	100	2		0	0	0	0	0	2	1	9.990303e-01	12	458	0	99	2								-2.200096	0	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.300000	0.160000	1.000000	0.290000	0.348535	0.300000	0	2.200000e-01	4.200000e-01
ESF1	51575	broad.mit.edu	37	20	13695780	13695780	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13695780T>G	ENST00000202816.1	-	14	2404	c.2297A>C	c.(2296-2298)tAc>tCc	p.Y766S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)			31					GTGGGAAGTGTACATTGCCTG	0.363000																								0							SO:0001583	missense			ENST00000202816.1	1	1	hg19	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696584	0.68386	.	.	ENSG00000089048	ENST00000202816	T	0.27557	1.66	6.05	6.05	0.98169	NUC153 (1);	0.074024	0.56097	D	0.000028	T	0.57460	0.2055	M	0.82823	2.61	0.44736	D	0.99773	D	0.76494	0.999	D	0.75020	0.985	T	0.63129	-0.6706	10	0.72032	D	0.01	0.2465	12.2619	0.54655	0.1341:0.0:0.0:0.8659	.	766	Q9H501	ESF1_HUMAN	S	766	ENSP00000202816:Y766S	ENSP00000202816:Y766S	Y	-	2	0	ESF1	13643780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.297000	0.65704	2.320000	0.78422	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	1	0	1	101	378	0	78	1	9.999999e-01	24	63	0	78	2		0	0	0	0	0	2	1	1	99	374	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESF1	51575	broad.mit.edu	37	20	13698151	13698151	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13698151G>T	ENST00000202816.1	-	13	2233	c.2126C>A	c.(2125-2127)gCt>gAt	p.A709D		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)			31					CATAAGCAAAGCCATTTCAGC	0.398000																								0							SO:0001583	missense			ENST00000202816.1	1	1	hg19	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908977	0.52439	.	.	ENSG00000089048	ENST00000202816	T	0.24538	1.85	5.87	4.92	0.64577	.	0.394143	0.25971	N	0.027123	T	0.33933	0.0880	M	0.74258	2.255	0.44234	D	0.997073	P	0.46706	0.883	B	0.41571	0.36	T	0.27088	-1.0084	10	0.39692	T	0.17	1.9035	17.0563	0.86534	0.0:0.1273:0.8727:0.0	.	709	Q9H501	ESF1_HUMAN	D	709	ENSP00000202816:A709D	ENSP00000202816:A709D	A	-	2	0	ESF1	13646151	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.566000	0.67372	1.616000	0.50265	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	0	0	0	23	421	1	78	0	2.448962e-01	5	72	1	78	6		0	0	0	0	0	2	1	7.552911e-01	23	409	1	77	19								-3.314673	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.620000	0.400000	1.000000	0.610000	0.646702	0.620000	0	5.000000e-01	7.800000e-01
ESF1	51575	broad.mit.edu	37	20	13714488	13714488	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13714488A>C	ENST00000202816.1	-	10	1937	c.1830T>G	c.(1828-1830)ggT>ggG	p.G610G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)			31					TTTCTTTAAGACCTGAGGAAA	0.289000																								0							SO:0001630	splice_region_variant			ENST00000202816.1	1	0	hg19	CCDS13117.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	0	0	1	101	474	0	90	1	9.999997e-01	28	73	0	90	2		0	0	0	0	0	2	1	1	95	467	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEL1L2	80343	broad.mit.edu	37	20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13830889G>A	ENST00000284951.5	-	19	1969	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)			51					TTTCATGACGGCAAAGAGCAC	0.458000																								0							SO:0001583	missense			ENST00000284951.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.457295	0.96223	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58940	0.3;1.77	5.97	5.97	0.96955	.	0.092184	0.47852	D	0.000215	T	0.77505	0.4140	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	T	0.78494	-0.2182	10	0.66056	D	0.02	-4.6879	17.9177	0.88957	0.0:0.0:1.0:0.0	.	519;632	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	519;632	ENSP00000367312:A519V;ENSP00000284951:A632V	ENSP00000284951:A632V	A	-	2	0	SEL1L2	13778889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.775000	0.91772	2.828000	0.97474	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1	73	286	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	1	71	282	0	70	2								-3.259601	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEL1L2	80343	broad.mit.edu	37	20	13868480	13868480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868480G>A	ENST00000284951.5	-	8	754	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	p.S227L(1)		51					ATTGATTCCCGACAAATATCT	0.303000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000284951.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.60	2.583741	0.46006	2.73E-4	0.0	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51817	0.69;0.69	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.133415	0.34853	N	0.003627	T	0.48333	0.1494	M	0.64080	1.96	0.37370	D	0.911584	B;D	0.57571	0.323;0.98	B;P	0.46110	0.095;0.504	T	0.50516	-0.8819	10	0.12103	T	0.63	-9.039	15.3235	0.74141	0.0:0.0:1.0:0.0	.	227;227	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	227	ENSP00000367312:S227L;ENSP00000284951:S227L	ENSP00000284951:S227L	S	-	2	0	SEL1L2	13816480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.574000	0.53863	2.674000	0.91012	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1	89	429	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1	88	421	0	121	2								-20.000000	1	1	120796	5	38	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEL1L2	80343	broad.mit.edu	37	20	13868619	13868619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868619G>T	ENST00000284951.5	-	7	706	c.632C>A	c.(631-633)gCt>gAt	p.A211D	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)			51					GTTTCCTCCAGCACTTCCAAA	0.343000																								0							SO:0001583	missense			ENST00000284951.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.56	3.851123	0.71719	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.44083	0.93;0.93	5.58	4.63	0.57726	Tetratricopeptide-like helical (1);	0.470461	0.19972	N	0.101948	T	0.41282	0.1152	N	0.17723	0.515	0.35851	D	0.826768	D;D	0.69078	0.982;0.997	P;D	0.67548	0.796;0.952	T	0.25328	-1.0135	10	0.12430	T	0.62	-6.6926	9.3908	0.38372	0.0946:0.0:0.9054:0.0	.	211;211	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	211	ENSP00000367312:A211D;ENSP00000284951:A211D	ENSP00000284951:A211D	A	-	2	0	SEL1L2	13816619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.615000	0.88500	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1	37	187	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	37	181	0	60	2								-19.706530	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SEL1L2	80343	broad.mit.edu	37	20	13869125	13869125	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13869125T>C	ENST00000284951.5	-	6	657	c.583A>G	c.(583-585)Atg>Gtg	p.M195V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)			51					TCATATTCCATTCCTATTCCA	0.264000																								0							SO:0001583	missense			ENST00000284951.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	1.073	-0.669328	0.03403	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.41065	1.01;1.01	5.7	3.43	0.39272	Tetratricopeptide-like helical (1);	0.219927	0.41500	N	0.000872	T	0.10981	0.0268	N	0.00793	-1.18	0.31497	N	0.665227	B;B	0.06786	0.001;0.001	B;B	0.08055	0.0;0.003	T	0.30446	-0.9978	10	0.02654	T	1	-8.1736	6.8787	0.24160	0.0:0.1789:0.0:0.8211	.	195;195	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	195	ENSP00000367312:M195V;ENSP00000284951:M195V	ENSP00000284951:M195V	M	-	1	0	SEL1L2	13817125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	0.975000	0.38392	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1	13	46	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	9.996700e-01	12	45	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999732	0.990000	1	9.900000e-01	1
SEL1L2	80343	broad.mit.edu	37	20	13971165	13971165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13971165G>A	ENST00000284951.5	-	1	90	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Silent_p.L6L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)			51					TCTATTAACAGAGACAAGGGC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000284951.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	1	0	1	60	306	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	60	300	0	66	2								-3.162075	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NSFL1C	55968	broad.mit.edu	37	20	1426401	1426401	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1426401A>G	ENST00000216879.4	-	8	1727	c.860T>C	c.(859-861)aTc>aCc	p.I287T	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)			16					GTCGATTAAGATGGAAGAGCT	0.532000																								0							SO:0001583	missense			ENST00000216879.4	1	1	hg19	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401691	0.62288	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.53	4.53	0.55603	.	0.285629	0.35262	N	0.003323	T	0.24198	0.0586	N	0.08118	0	0.54753	D	0.999981	B;B;B	0.31256	0.092;0.316;0.056	B;B;B	0.26969	0.032;0.075;0.021	T	0.16364	-1.0405	10	0.59425	D	0.04	-4.3721	14.3138	0.66434	1.0:0.0:0.0:0.0	.	256;176;287	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	T	256;289;287;176;289	ENSP00000338643:I256T;ENSP00000418529:I289T;ENSP00000216879:I287T;ENSP00000371074:I176T;ENSP00000202584:I289T	ENSP00000216879:I287T	I	-	2	0	NSFL1C	1374401	1.000000	0.71417	0.347000	0.25668	0.924000	0.55760	8.630000	0.90987	2.037000	0.60232	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	1	0	1	208	820	0	183	1	1	153	244	0	183	2		0	0	0	0	0	2	1	1	204	800	0	183	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLRT3	23767	broad.mit.edu	37	20	14306234	14306234	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14306234C>T	ENST00000378053.3	-	2	2175	c.1919G>A	c.(1918-1920)gGt>gAt	p.G640D	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3			17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)		GTCTGGAATACCACTGTCTCT	0.423000																								0							SO:0001583	missense			ENST00000378053.3	1	1	hg19	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006577	0.54361	.	.	ENSG00000125848	ENST00000378053;ENST00000341420	T;T	0.62788	0.0;0.0	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.76796	-0.2827	10	0.66056	D	0.02	-12.6026	20.8598	0.99761	0.0:1.0:0.0:0.0	.	640	Q9NZU0	FLRT3_HUMAN	D	640	ENSP00000367292:G640D;ENSP00000339912:G640D	ENSP00000339912:G640D	G	-	2	0	FLRT3	14254234	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.999000	0.70665	2.937000	0.99478	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	0	0	0	20	628	0	141	1	3.579902e-01	2	37	0	141	2		0	0	0	0	0	2	1	9.999944e-01	19	619	0	140	2								-3.481129	1	1	121402	1	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.370000	0.230000	1.000000	0.370000	0.408392	0.370000	0	2.900000e-01	4.800000e-01
FLRT3	23767	broad.mit.edu	37	20	14307515	14307515	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307515T>G	ENST00000378053.3	-	2	894	c.638A>C	c.(637-639)aAt>aCt	p.N213T	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3			17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)		TAAACCATGATTGTTCAACAG	0.443000																								0							SO:0001583	missense			ENST00000378053.3	1	1	hg19	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175522	0.57692	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.02301	4.35;4.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.10874	0.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62506	-0.6840	10	0.44086	T	0.13	-15.4867	16.8061	0.85666	0.0:0.0:0.0:1.0	.	213	Q9NZU0	FLRT3_HUMAN	T	213	ENSP00000367292:N213T;ENSP00000339912:N213T	ENSP00000339912:N213T	N	-	2	0	FLRT3	14255515	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	AAT		TCGA-IB-7651-01A-11D-2154-08	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	1	0	1	60	273	0	73	1	6.644485e-01	3	9	0	73	2		0	0	0	0	0	2	1	1	60	267	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLRT3	23767	broad.mit.edu	37	20	14307947	14307947	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307947T>C	ENST00000378053.3	-	2	462	c.206A>G	c.(205-207)cAa>cGa	p.Q69R	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3			17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)		ATTATTTATTTGGTTGTTCTG	0.393000																								0							SO:0001583	missense			ENST00000378053.3	1	1	hg19	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562035	0.27915	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.39787	1.06;1.06	6.06	4.94	0.65067	.	0.143023	0.49916	D	0.000123	T	0.28267	0.0698	N	0.16833	0.445	0.44834	D	0.997845	B	0.14012	0.009	B	0.15052	0.012	T	0.03354	-1.1045	10	0.30078	T	0.28	-10.4966	13.4394	0.61104	0.0:0.0:0.1308:0.8692	.	69	Q9NZU0	FLRT3_HUMAN	R	69	ENSP00000367292:Q69R;ENSP00000339912:Q69R	ENSP00000339912:Q69R	Q	-	2	0	FLRT3	14255947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.758000	0.68776	1.077000	0.40990	0.533000	0.62120	CAA		TCGA-IB-7651-01A-11D-2154-08	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	1	0	1	133	601	0	142	1	9.370861e-01	8	15	0	142	2		0	0	0	0	0	2	1	1	129	595	0	139	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLRT3	23767	broad.mit.edu	37	20	14308063	14308063	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14308063G>A	ENST00000378053.3	-	2	346	c.90C>T	c.(88-90)tcC>tcT	p.S30S	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.S30S	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3			17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)		CAGATGGACAGGATTTAGCCA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000378053.3	1	1	hg19	CCDS13121.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	1	0	1	76	379	0	72	1	8.683464e-01	11	9	0	72	2		0	0	0	0	0	2	1	1	74	369	0	72	2								-3.336695	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NSFL1C	55968	broad.mit.edu	37	20	1433256	1433256	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1433256G>A	ENST00000216879.4	-	7	1534	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)			16					GCTAGCCTCCGAAGCTCTGCT	0.537000																								0							SO:0001583	missense			ENST00000216879.4	1	1	hg19	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206609	0.58343	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.46063	0.91;0.89;0.9;0.88;0.89	5.13	5.13	0.70059	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	L	0.45352	1.415	0.80722	D	1	D;B;P	0.89917	1.0;0.252;0.459	D;B;B	0.83275	0.996;0.031;0.094	T	0.58399	-0.7643	10	0.66056	D	0.02	-9.271	17.2951	0.87168	0.0:0.0:1.0:0.0	.	192;112;223	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	W	192;225;223;112;225	ENSP00000338643:R192W;ENSP00000418529:R225W;ENSP00000216879:R223W;ENSP00000371074:R112W;ENSP00000202584:R225W	ENSP00000216879:R223W	R	-	1	2	NSFL1C	1381256	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.655000	0.54460	2.824000	0.97209	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	0	0	1	157	671	1	156	1	1	155	340	1	156	13		0	0	0	0	0	2	1	1	151	653	1	154	18								-3.193144	1	1	121412	1	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NSFL1C	55968	broad.mit.edu	37	20	1438856	1438856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1438856C>T	ENST00000216879.4	-	3	1134	c.267G>A	c.(265-267)gaG>gaA	p.E89E	NSFL1C_ENST00000461211.1_5'Flank|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R10K|NSFL1C_ENST00000353088.2_Silent_p.E89E|NSFL1C_ENST00000476071.1_Silent_p.E89E	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)			16					TCTGGCCTTCCTCTTCCTCCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000216879.4	1	1	hg19	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004086	0.54254	.	.	ENSG00000088833	ENST00000381658	T	0.41400	1.0	5.16	-4.07	0.03975	.	.	.	.	.	T	0.27697	0.0681	.	.	.	0.21020	N	0.9998	B	0.02656	0.0	B	0.04013	0.001	T	0.21143	-1.0254	8	0.31617	T	0.26	-8.9849	13.2385	0.59983	0.0:0.3723:0.0:0.6277	.	10	Q9UNZ2-6	.	K	10	ENSP00000371074:R10K	ENSP00000371074:R10K	R	-	2	0	NSFL1C	1386856	0.174000	0.23070	0.729000	0.30791	0.934000	0.57294	-0.711000	0.05019	-0.684000	0.05183	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	0	0	1	79	392	0	110	1	1	117	240	0	110	2		0	0	0	0	0	2	1	1	76	380	0	110	2								-2.939039	1	1	121412	2	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MACROD2	140733	broad.mit.edu	37	20	14474150	14474150	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14474150A>T	ENST00000310348.4	+	4	297	c.297A>T	c.(295-297)ggA>ggT	p.G99G	MACROD2_ENST00000217246.4_Silent_p.G99G			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2			20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)			TTGGAGGAGGAGGTGGTAAGT	0.279000																								0							SO:0001819	synonymous_variant			ENST00000310348.4	1	1	hg19	CCDS13120.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	29	324	0	71	1	6.128441e-02	2	3	0	71	2		0	0	0	0	0	2	1	1	29	314	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.980000	0.670000	1.000000	1.000000	0.927605	0.980000	1	8.100000e-01	1
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	p.S240L(1)|p.S141L(1)		16					GCCTTCATCCGATTTCATTTC	0.478000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000359801.3	1	1	hg19	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344962	0.11126	6.38E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.39406	1.08;4.32	4.03	-0.905	0.10527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.051780	0.02728	N	0.114791	T	0.17152	0.0412	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11485	T	0.65	-16.8466	7.1865	0.25803	0.55:0.0:0.45:0.0	.	3;141	F5H204;Q5JXA9	.;SIRB2_HUMAN	L	141;3	ENSP00000352849:S141L;ENSP00000445632:S3L	ENSP00000352849:S141L	S	-	2	0	SIRPB2	1408374	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.125000	0.31332	-0.048000	0.13401	-0.140000	0.14226	TCG		TCGA-IB-7651-01A-11D-2154-08	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	0	0	0	36	791	0	155	0	4.739332e-02	0	8	0	155	2		0	0	0	0	0	2	1	1	35	777	0	155	2								-3.929019	1	1	120534	1	40	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.520000	0.360000	1.000000	0.510000	0.547060	0.520000	0	4.300000e-01	6.300000e-01
MACROD2	140733	broad.mit.edu	37	20	16021894	16021894	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16021894G>T	ENST00000310348.4	+	16	1202	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I|MACROD2_ENST00000217246.4_Missense_Mutation_p.S401I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2			20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)			GAAGGCTCCAGTGACCTAGAA	0.448000																								0							SO:0001583	missense			ENST00000310348.4	1	1	hg19	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	3.203	-0.163362	0.06502	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.51325	2.03;2.3;0.71;0.71	5.37	2.31	0.28768	.	1.218200	0.05691	N	0.592088	T	0.45034	0.1322	L	0.36672	1.1	0.09310	N	1	B;B;B	0.18461	0.023;0.017;0.028	B;B;B	0.32583	0.148;0.01;0.022	T	0.49041	-0.8980	10	0.87932	D	0	2.7006	8.5224	0.33285	0.1475:0.0:0.7257:0.1268	.	52;401;401	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	I	401;401;166;166;52	ENSP00000217246:S401I;ENSP00000309809:S401I;ENSP00000385290:S166I;ENSP00000367297:S166I	ENSP00000217246:S401I	S	+	2	0	MACROD2	15969894	0.004000	0.15560	0.002000	0.10522	0.081000	0.17604	0.922000	0.28734	0.071000	0.16664	-0.797000	0.03246	AGT		TCGA-IB-7651-01A-11D-2154-08	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	24	106	0	35	0	3.924843e-01	1	6	0	35	2		0	0	0	0	0	2	1	9.999998e-01	24	105	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
SIRPG	55423	broad.mit.edu	37	20	1615981	1615981	+	Missense_Mutation	SNP	G	G	A	rs41275434	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1615981G>A	ENST00000303415.3	-	4	1077	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	SIRPG_ENST00000381580.1_Missense_Mutation_p.A305V|SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000437384.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma			27					TTTGCTGACCGCCAGCTGCCC	0.507000																								0							SO:0001583	missense			ENST00000303415.3	1	1	hg19	CCDS13020.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	6.004	0.369084	0.11352	0.0	9.3E-4	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.12255	3.11;2.7	1.6	-0.664	0.11406	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.736109	0.12511	N	0.462442	T	0.09069	0.0224	M	0.65677	2.01	0.09310	N	1	P	0.50943	0.94	B	0.31442	0.13	T	0.26467	-1.0102	10	0.42905	T	0.14	.	2.2338	0.04003	0.1987:0.0:0.5027:0.2987	rs41275434	338	Q9P1W8	SIRPG_HUMAN	V	305;338	ENSP00000370992:A305V;ENSP00000305529:A338V	ENSP00000305529:A338V	A	-	2	0	SIRPG	1563981	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	0.175000	0.16762	-0.163000	0.10946	-1.051000	0.02340	GCG		TCGA-IB-7651-01A-11D-2154-08	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	1	0	1	78	336	0	93	0	6.900971e-01	0	12	0	93	2		0	0	0	0	0	2	1	1	78	332	0	93	2								-3.075755	1	1	121412	49	50	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIRPG	55423	broad.mit.edu	37	20	1629742	1629742	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1629742T>C	ENST00000303415.3	-	2	450	c.386A>G	c.(385-387)aAc>aGc	p.N129S	SIRPG_ENST00000381580.1_Missense_Mutation_p.N96S|SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma			27					AAACTCCACGTTCTCAGGGCT	0.483000																								0							SO:0001583	missense			ENST00000303415.3	1	1	hg19	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	12.39	1.924031	0.34002	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.187422	0.37437	N	0.002092	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19583	0.03;0.032;0.037	B;B;B	0.16722	0.009;0.006;0.016	T	0.49360	-0.8948	10	0.09843	T	0.71	.	5.8652	0.18771	0.0:0.0:0.0:1.0	.	129;129;129	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	S	96;129;129;129;129	ENSP00000370992:N96S;ENSP00000342759:N129S;ENSP00000305529:N129S;ENSP00000370995:N129S;ENSP00000216927:N129S	ENSP00000216927:N129S	N	-	2	0	SIRPG	1577742	0.005000	0.15991	0.009000	0.14445	0.664000	0.39144	1.424000	0.34848	1.143000	0.42306	0.164000	0.16699	AAC		TCGA-IB-7651-01A-11D-2154-08	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	0	0	0	22	553	0	132	0	3.069687e-01	0	28	0	132	2		0	0	0	0	0	2	1	9.999985e-01	22	544	0	129	2								-4.056558	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.460000	0.290000	1.000000	0.450000	0.492479	0.460000	0	3.700000e-01	5.800000e-01
KIF16B	55614	broad.mit.edu	37	20	16355009	16355009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16355009G>A	ENST00000354981.2	-	20	3400	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000378003.2_Silent_p.V307V|KIF16B_ENST00000408042.1_Silent_p.V1081V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B			74					GAACACCATCGACCTCATAAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000354981.2	1	1	hg19	CCDS13122.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	1	0	1	71	311	0	60	1	9.992136e-01	10	39	0	60	2		0	0	0	0	0	2	1	1	68	309	0	60	2								-3.097247	1	1	121412	3	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF16B	55614	broad.mit.edu	37	20	16486701	16486701	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16486701G>T	ENST00000354981.2	-	8	991	c.834C>A	c.(832-834)tcC>tcA	p.S278S	KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.S278S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B			74					GAGTCACGAGGGACTTGTTAA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000354981.2	1	1	hg19	CCDS13122.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	0	0	0	14	497	0	104	1	4.798741e-01	4	52	0	104	2		0	0	0	0	0	2	1	9.997277e-01	13	489	0	102	2								-2.826144	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.330000	0.180000	1.000000	0.320000	0.373428	0.330000	0	2.500000e-01	4.500000e-01
OTOR	56914	broad.mit.edu	37	20	16729634	16729634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16729634G>T	ENST00000246081.2	+	2	282	c.238G>T	c.(238-240)Gaa>Taa	p.E80*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin			10					TGGAGCTGGAGAATTTTGGGC	0.363000																								0							SO:0001587	stop_gained			ENST00000246081.2	0	1	hg19	CCDS13124.1	.	.	.	.	.	.	.	.	.	.	G	37	6.444330	0.97572	.	.	ENSG00000125879	ENST00000246081	.	.	.	5.93	5.93	0.95920	.	0.108254	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-33.135	18.5344	0.91004	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000246081:E80X	E	+	1	0	OTOR	16677634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	2.826000	0.97356	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2	1	0	1	62	241	0	44	0	4.320154e-02	0	2	0	44	2		0	0	0	0	0	2	1	1	63	231	0	44	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEFB128	245939	broad.mit.edu	37	20	168663	168663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:168663C>T	ENST00000334391.4	-	2	203	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128			5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)		ACATAATTTCCCACTTAGACA	0.388000																								0							SO:0001583	missense			ENST00000334391.4	1	1	hg19	CCDS33430.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550653	0.45383	.	.	ENSG00000185982	ENST00000334391	T	0.13538	2.58	4.3	2.38	0.29361	.	0.427123	0.20219	N	0.096725	T	0.17874	0.0429	.	.	.	0.09310	N	1	P	0.42078	0.77	P	0.48840	0.592	T	0.04840	-1.0923	9	0.66056	D	0.02	-4.7649	6.5449	0.22400	0.0:0.7865:0.0:0.2135	.	49	Q7Z7B8	DB128_HUMAN	E	49	ENSP00000335382:G49E	ENSP00000335382:G49E	G	-	2	0	DEFB128	116663	0.002000	0.14202	0.144000	0.22314	0.081000	0.17604	0.437000	0.21543	0.751000	0.32900	0.651000	0.88453	GGG		TCGA-IB-7651-01A-11D-2154-08	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	1	0	1	202	898	0	236		0	0	0	0	236	2		0	0	0	0	0	2	1	1	200	875	0	233	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK2	5126	broad.mit.edu	37	20	17462277	17462277	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17462277C>A	ENST00000262545.2	+	12	1794	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	PCSK2_ENST00000377899.1_Silent_p.A474A|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Silent_p.A458A	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2			53				"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAACCGACGCCTGTGAGGGGA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000262545.2	1	1	hg19	CCDS13125.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	1	0	1	93	403	0	93	0	9.973814e-01	0	41	0	93	2		0	0	0	0	0	2	1	1	90	391	0	93	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RRBP1	6238	broad.mit.edu	37	20	17610570	17610570	+	Missense_Mutation	SNP	G	G	A	rs147114989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17610570G>A	ENST00000377813.1	-	9	2950	c.2647C>T	c.(2647-2649)Cgc>Tgc	p.R883C	RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C|RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C|RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1			28					TCGTCCAGGCGCTTCTGCAGG	0.697000																								0							SO:0001583	missense			ENST00000377813.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.90	3.251294	0.59212	0.0	1.16E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.38	2.15	0.27550	.	0.000000	0.35936	N	0.002888	T	0.54382	0.1855	L	0.59436	1.845	0.58432	D	0.999991	D	0.89917	1.0	D	0.74674	0.984	T	0.55655	-0.8107	10	0.72032	D	0.01	-12.8453	8.4086	0.32629	0.0:0.1263:0.5658:0.3079	.	450	Q9P2E9-3	.	C	450;883;450;883;224	ENSP00000354045:R450C;ENSP00000367044:R883C;ENSP00000367038:R450C;ENSP00000246043:R883C;ENSP00000401206:R224C	ENSP00000246043:R883C	R	-	1	0	RRBP1	17558570	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.668000	0.37481	1.111000	0.41721	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	0	0	1	37	150	0	29	1	1	130	478	0	29	2		0	0	0	0	0	2	1	1	37	148	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX5	27131	broad.mit.edu	37	20	17923780	17923780	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17923780A>C	ENST00000377768.3	-	13	1450	c.1138T>G	c.(1138-1140)Tct>Gct	p.S380A	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.S380A	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5			11					TCCAGTTCAGACATTTCAATT	0.328000																								0							SO:0001583	missense			ENST00000377768.3	1	1	hg19	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	A	3.231	-0.157421	0.06544	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.58060	0.36;0.36	5.49	5.49	0.81192	.	0.152923	0.64402	D	0.000014	T	0.11836	0.0288	N	0.00112	-2.095	0.35452	D	0.795741	B	0.02656	0.0	B	0.04013	0.001	T	0.37150	-0.9718	10	0.02654	T	1	-23.815	6.325	0.21239	0.6166:0.1465:0.0:0.2369	.	380	Q9Y5X3	SNX5_HUMAN	A	380	ENSP00000366998:S380A;ENSP00000366988:S380A	ENSP00000366988:S380A	S	-	1	0	SNX5	17871780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.365000	0.44196	2.207000	0.71202	0.533000	0.62120	TCT		TCGA-IB-7651-01A-11D-2154-08	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4	0	0	1	211	995	1	325	1	1	111	339	1	325	7		0	0	0	0	0	2	1	1	208	979	0	324	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX5	27131	broad.mit.edu	37	20	17934647	17934647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17934647G>T	ENST00000377768.3	-	5	694	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.L128M	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5			11					TACGCTTCCAGTTCTTGTTTC	0.423000																								0							SO:0001583	missense			ENST00000377768.3	1	1	hg19	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744613	0.69418	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.39	2.41	0.29592	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.92691	3.335	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82506	-0.0423	10	0.66056	D	0.02	-18.7303	8.8107	0.34965	0.286:0.0:0.714:0.0	.	149;128	B7Z476;Q9Y5X3	.;SNX5_HUMAN	M	128;128;91;93	ENSP00000366998:L128M;ENSP00000366988:L128M;ENSP00000404448:L91M;ENSP00000406731:L93M	ENSP00000366988:L128M	L	-	1	2	SNX5	17882647	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.490000	0.53245	0.360000	0.24265	0.455000	0.32223	CTG		TCGA-IB-7651-01A-11D-2154-08	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4	1	0	1	220	943	0	223	1	1	113	351	0	223	2		0	0	0	0	0	2	1	1	214	918	0	220	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSRP2BP	57325	broad.mit.edu	37	20	18143582	18143582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18143582G>A	ENST00000435364.3	+	6	2005	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R554Q	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein			34					ATCCTTGACCGATACCAGGTG	0.527000																								0							SO:0001583	missense			ENST00000435364.3	0	1	hg19	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263816	0.95399	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.23754	1.89;1.89;1.89;1.9	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.56135	-0.8029	10	0.72032	D	0.01	-18.9691	19.6614	0.95875	0.0:0.0:1.0:0.0	.	427;555	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	Q	555;554;555;427	ENSP00000278816:R555Q;ENSP00000366909:R554Q;ENSP00000392318:R555Q;ENSP00000425909:R427Q	ENSP00000278816:R555Q	R	+	2	0	CSRP2BP	18091582	1.000000	0.71417	0.987000	0.45799	0.928000	0.56348	9.060000	0.93907	2.633000	0.89246	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	0	0	0	19	142	0	46	1	9.923491e-01	10	52	0	46	2		0	0	0	0	0	2	1	9.999914e-01	17	139	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.880000	1.000000	1.000000	0.993173	0.990000	1	9.900000e-01	1
CSRP2BP	57325	broad.mit.edu	37	20	18162409	18162409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18162409G>A	ENST00000435364.3	+	7	2068	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R575H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein			34					TTTTTGTATCGCTTGGTAGGA	0.428000																								0							SO:0001583	missense			ENST00000435364.3	1	1	hg19	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322696	0.95708	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.16897	2.31;2.31;2.31;2.32	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.42189	-0.9466	10	0.87932	D	0	-22.1899	19.3627	0.94446	0.0:0.0:1.0:0.0	.	448;576	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	576;575;576;448	ENSP00000278816:R576H;ENSP00000366909:R575H;ENSP00000392318:R576H;ENSP00000425909:R448H	ENSP00000278816:R576H	R	+	2	0	CSRP2BP	18110409	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.743000	0.91592	2.583000	0.87209	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	0	0	1	98	472	1	91	1	9.712864e-01	12	27	1	91	3		0	0	0	0	0	2	1	1	96	457	1	90	20								-20.000000	1	1	121412	3	40	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF133	7692	broad.mit.edu	37	20	18296806	18296806	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18296806G>A	ENST00000316358.4	+	4	1408	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000402618.2_Silent_p.P374P|ZNF133_ENST00000377671.3_Silent_p.P436P|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Silent_p.P342P|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Silent_p.P440P	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133			26					GGGAGAAGCCGTATGTTTGTG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000316358.4	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	1	0	1	94	371	0	92	1	9.996827e-01	16	33	0	92	2		0	0	0	0	0	2	1	1	94	363	0	88	2								-3.679592	1	1	121410	3	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF133	7692	broad.mit.edu	37	20	18297040	18297040	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297040G>A	ENST00000316358.4	+	4	1642	c.1545G>A	c.(1543-1545)acG>acA	p.T515T	ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000402618.2_Silent_p.T452T|ZNF133_ENST00000377671.3_Silent_p.T514T|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Silent_p.T420T|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Silent_p.T518T	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133			26					ACCAGAGGACGCACTCAGGGG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000316358.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	1	0	1	49	361	0	73	1	9.708776e-01	7	37	0	73	2		0	0	0	0	0	2	1	1	49	354	0	72	2								-3.221888	1	1	121412	1	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999639	0.990000	1	9.900000e-01	1
ZNF133	7692	broad.mit.edu	37	20	18297174	18297174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297174G>T	ENST00000316358.4	+	4	1776	c.1679G>T	c.(1678-1680)gGc>gTc	p.G560V	ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000377671.3_Missense_Mutation_p.G559V|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133			26					CTGGGCTTTGGCAATAAGTCA	0.562000																								0							SO:0001583	missense			ENST00000316358.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287488	0.05605	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.23	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.687394	0.13418	N	0.389409	T	0.25419	0.0618	N	0.20881	0.62	0.09310	N	0.999999	B;B;B;B	0.23540	0.087;0.039;0.064;0.052	B;B;B;B	0.32928	0.155;0.102;0.102;0.062	T	0.28332	-1.0047	10	0.20046	T	0.44	-4.9001	3.4811	0.07602	0.2924:0.0:0.5306:0.177	.	497;563;560;559	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	V	559;563;497;560;465;465;560	ENSP00000366899:G559V;ENSP00000400897:G563V;ENSP00000385279:G497V;ENSP00000383945:G560V;ENSP00000442978:G465V;ENSP00000439427:G465V;ENSP00000346090:G560V	ENSP00000346090:G560V	G	+	2	0	ZNF133	18245174	0.000000	0.05858	0.037000	0.18230	0.317000	0.28152	-0.640000	0.05440	0.309000	0.22966	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	1	0	1	51	238	0	65	1	9.880130e-01	11	24	0	65	2		0	0	0	0	0	2	1	1	50	226	0	63	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBBP9	10741	broad.mit.edu	37	20	18471048	18471048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18471048G>A	ENST00000337227.4	-	4	400	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9			9					CCACTTGCACGCTCATTTTCA	0.423000																								0							SO:0001583	missense			ENST00000337227.4	1	1	hg19	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799256	0.70567	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	4.96	3.02	0.34903	.	0.290145	0.27554	N	0.018852	T	0.63510	0.2517	M	0.80847	2.515	0.52099	D	0.999947	D	0.71674	0.998	P	0.52454	0.699	T	0.63580	-0.6605	9	0.54805	T	0.06	-0.1625	4.8294	0.13432	0.1751:0.0:0.6562:0.1687	.	109	O75884	RBBP9_HUMAN	C	109	.	ENSP00000336866:R109C	R	-	1	0	RBBP9	18419048	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.344000	0.44010	0.803000	0.34113	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	1	0	1	61	249	0	62	1	9.999981e-01	21	61	0	62	2		0	0	0	0	0	2	1	1	59	245	0	60	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIRPA	140885	broad.mit.edu	37	20	1896098	1896098	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1896098C>A	ENST00000358771.4	+	2	585	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S|SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha			21					GCTGTCTGTGCGCGGTGAGTA	0.542000													GBM(155;1668 1920 5945 42733 48121)											0							SO:0001583	missense			ENST00000358771.4	1	1	hg19	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393833	0.11638	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02085	4.46;4.46;4.46	5.11	-3.87	0.04218	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.012980	0.07889	N	0.970802	T	0.01189	0.0039	N	0.01705	-0.755	0.09310	N	1	B;B;B	0.23316	0.005;0.083;0.005	B;B;B	0.13407	0.005;0.009;0.005	T	0.48186	-0.9057	10	0.16420	T	0.52	.	17.2156	0.86943	0.2185:0.7815:0.0:0.0	.	125;145;145	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	S	145	ENSP00000382941:R145S;ENSP00000348307:R145S;ENSP00000351621:R145S	ENSP00000348307:R145S	R	+	1	0	SIRPA	1844098	0.027000	0.19231	0.010000	0.14722	0.037000	0.13140	-0.010000	0.12743	-0.921000	0.03794	-0.410000	0.06199	CGC		TCGA-IB-7651-01A-11D-2154-08	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	1	0	0	39	411	0	71	0	9.981648e-01	0	102	0	71	2		0	0	0	0	0	2	1	1	33	380	0	71	2								-3.142702	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.740000	1.000000	1.000000	0.956719	0.990000	1	8.800000e-01	1
SIRPA	140885	broad.mit.edu	37	20	1903222	1903222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1903222G>A	ENST00000358771.4	+	4	1170	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T|SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha			21					CGGGCAGCCAGCGGTCAGCAA	0.577000													GBM(155;1668 1920 5945 42733 48121)											0							SO:0001583	missense			ENST00000358771.4	0	1	hg19	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142702	0.57044	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.09073	3.02;3.02;3.02	5.35	3.26	0.37387	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.593939	0.16053	N	0.231870	T	0.13500	0.0327	M	0.79475	2.455	0.09310	N	1	P;D;P	0.54047	0.79;0.964;0.889	B;B;P	0.44732	0.286;0.441;0.459	T	0.12656	-1.0539	10	0.48119	T	0.1	.	8.1172	0.30950	0.0:0.1926:0.6346:0.1728	.	320;340;340	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	340	ENSP00000382941:A340T;ENSP00000348307:A340T;ENSP00000351621:A340T	ENSP00000348307:A340T	A	+	1	0	SIRPA	1851222	0.048000	0.20356	0.113000	0.21522	0.081000	0.17604	1.072000	0.30678	1.607000	0.50170	-0.211000	0.12701	GCG		TCGA-IB-7651-01A-11D-2154-08	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	1	0	0	40	138	0	32	0	1	1	142	0	32	2		0	0	0	0	0	2	1	1	32	126	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDYN	5173	broad.mit.edu	37	20	1961097	1961097	+	Missense_Mutation	SNP	G	G	A	rs150455107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961097G>A	ENST00000217305.2	-	4	862	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	p.R213C(1)		38					GGACGAATGCGCCGCAAGAAG	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000217305.2	1	1	hg19	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055632	0.75960	0.0	1.16E-4	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.83591	-1.74;-1.74;-1.74	5.0	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90666	0.4594	10	0.52906	T	0.07	-19.9746	9.944	0.41598	0.0:0.0:0.7025:0.2975	.	213	P01213	PDYN_HUMAN	C	213	ENSP00000440185:R213C;ENSP00000442259:R213C;ENSP00000217305:R213C	ENSP00000217305:R213C	R	-	1	0	PDYN	1909097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.681000	0.37618	2.603000	0.88011	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2	1	0	1	137	580	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1	137	565	0	145	2								-20.000000	1	1	121412	3	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDYN	5173	broad.mit.edu	37	20	1961244	1961244	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961244C>T	ENST00000217305.2	-	4	715	c.490G>A	c.(490-492)Gct>Act	p.A164T	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.A164T|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	p.A164P(1)		38					TCCTCCTCAGCGAGATAGAGT	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000217305.2	1	1	hg19	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	6.449	0.451015	0.12223	2.27E-4	0.0	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80214	-1.35;-1.35;-1.35	4.71	-8.27	0.01017	.	2.758650	0.00899	N	0.002322	T	0.60038	0.2238	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.54543	-0.8278	10	0.10636	T	0.68	0.0995	8.2662	0.31815	0.0:0.2269:0.3021:0.4711	.	164	P01213	PDYN_HUMAN	T	164	ENSP00000440185:A164T;ENSP00000442259:A164T;ENSP00000217305:A164T	ENSP00000217305:A164T	A	-	1	0	PDYN	1909244	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.574000	0.05868	-1.675000	0.01459	-1.579000	0.00862	GCT		TCGA-IB-7651-01A-11D-2154-08	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2	1	0	1	82	465	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	80	454	0	120	2								-20.000000	1	1	121412	1	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC24A3	57419	broad.mit.edu	37	20	19698237	19698237	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:19698237G>A	ENST00000328041.6	+	16	1982	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3			39					TTTTTGTCACGGTAGGTTGGC	0.522000																								0							SO:0001630	splice_region_variant			ENST00000328041.6	1	0	hg19	CCDS13140.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	1	0	1	250	1009	0	231	0	1	0	96	0	231	2		0	0	0	0	0	2	1	1	243	990	0	228	2								-2.683875	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRNKL1	51340	broad.mit.edu	37	20	20016875	20016875	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20016875G>A	ENST00000377340.2	-	15	2542	c.2511C>T	c.(2509-2511)caC>caT	p.H837H	CRNKL1_ENST00000536226.1_Silent_p.H676H|CRNKL1_ENST00000377327.4_Silent_p.H825H|CRNKL1_ENST00000521379.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1			45					CATCTGGATGGTGCTCAGCAT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000377340.2	1	1	hg19	CCDS33446.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1	1	0	1	86	515	0	95	1	1	49	130	0	95	2		0	0	0	0	0	2	1	1	87	502	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C20orf26	0	broad.mit.edu	37	20	20144736	20144736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20144736T>C	ENST00000245957.5	+	11	1145	c.1069T>C	c.(1069-1071)Tat>Cat	p.Y357H	C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN				77					ATATGCACAGTATCACCATGT	0.502000																								0							SO:0001583	missense			ENST00000245957.5	1	1	hg19	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	4.349	0.064258	0.08388	.	.	ENSG00000089101	ENST00000340348;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	T;T;T	0.08458	3.09;3.09;3.09	5.36	0.968	0.19680	.	2.004040	0.02619	N	0.102998	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B	0.27932	0.007;0.194;0.0;0.0	B;B;B;B	0.19148	0.001;0.024;0.0;0.0	T	0.32798	-0.9893	10	0.44086	T	0.13	.	1.2688	0.02016	0.2649:0.1475:0.4344:0.1532	.	357;357;312;357	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	H	312;357;357;357;357	ENSP00000245957:Y357H;ENSP00000366521:Y357H;ENSP00000414537:Y357H	ENSP00000245957:Y357H	Y	+	1	0	C20orf26	20092736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.136000	0.15974	0.012000	0.14892	-0.132000	0.14878	TAT		TCGA-IB-7651-01A-11D-2154-08	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	1	0	1	40	351	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	39	341	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.880000	1.000000	1.000000	0.992511	0.990000	1	9.900000e-01	1
C20orf26	0	broad.mit.edu	37	20	20269275	20269275	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20269275A>C	ENST00000245957.5	+	23	2895	c.2819A>C	c.(2818-2820)aAg>aCg	p.K940T	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN				77					TTCTGTGAGAAGAATGTGGAT	0.403000																								0							SO:0001583	missense			ENST00000245957.5	1	1	hg19	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729971	0.69074	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.12879	2.64	5.6	5.6	0.85130	.	0.051644	0.85682	D	0.000000	T	0.36166	0.0957	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.12477	-1.0546	10	0.72032	D	0.01	.	11.6781	0.51442	0.929:0.0:0.071:0.0	.	940	Q8NHU2	CT026_HUMAN	T	880;906;940	ENSP00000245957:K940T	ENSP00000245957:K940T	K	+	2	0	C20orf26	20217275	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.045000	0.64220	2.142000	0.66516	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	1	0	1	159	834	0	218		0	0	0	0	218	2		0	0	0	0	0	2	1	1	155	808	0	215	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C20orf26	0	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20278871G>A	ENST00000245957.5	+	25	3339	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		p.R1088Q(3)|p.R1088P(1)		77					ACTTACTTCCGAATTCATATT	0.458000																								4	Substitution - Missense(4)						SO:0001583	missense			ENST00000245957.5	1	1	hg19	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678484	0.88542	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.47528	0.84	5.27	5.27	0.74061	.	0.300219	0.31922	N	0.006857	T	0.61211	0.2329	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	P	0.51701	0.677	T	0.65784	-0.6084	10	0.62326	D	0.03	.	19.2438	0.93893	0.0:0.0:1.0:0.0	.	1088	Q8NHU2	CT026_HUMAN	Q	1028;1054;1088	ENSP00000245957:R1088Q	ENSP00000245957:R1088Q	R	+	2	0	C20orf26	20226871	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	6.069000	0.71209	2.628000	0.89032	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	1	0	1	58	233	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	56	227	0	58	2								-20.000000	1	1	121412	1	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C20orf26	0	broad.mit.edu	37	20	20279025	20279025	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20279025C>T	ENST00000245957.5	+	25	3493	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN				77					TCACAGATCTCTATAGGTGAG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000245957.5	1	1	hg19	CCDS33447.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	1	0	1	25	119	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	9.999999e-01	25	117	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999968	0.990000	1	9.900000e-01	1
C20orf26	0	broad.mit.edu	37	20	20340951	20340951	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20340951T>G	ENST00000245957.5	+	27	3687	c.3611T>G	c.(3610-3612)tTt>tGt	p.F1204C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN				77					AAAAGAGTTTTTGAGGAATCC	0.488000											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000245957.5	1	1	hg19	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	t	10.46	1.355205	0.24512	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.11385	2.78	5.39	4.27	0.50696	.	0.242001	0.29480	N	0.012021	T	0.19046	0.0457	L	0.40543	1.245	0.34156	D	0.668057	D	0.71674	0.998	P	0.58873	0.847	T	0.17899	-1.0354	10	0.59425	D	0.04	.	11.0362	0.47802	0.1397:0.0:0.0:0.8603	.	1204	Q8NHU2	CT026_HUMAN	C	1144;1170;1204	ENSP00000245957:F1204C	ENSP00000245957:F1204C	F	+	2	0	C20orf26	20288951	0.064000	0.20934	0.085000	0.20634	0.005000	0.04900	0.616000	0.24344	0.961000	0.38030	0.451000	0.29950	TTT		TCGA-IB-7651-01A-11D-2154-08	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	0	0	1	191	745	1	188		0	0	0	1	188	2		0	0	0	0	0	2	1	1	188	725	1	187	17								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGAPA2	57186	broad.mit.edu	37	20	20517328	20517328	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20517328T>G	ENST00000202677.7	-	25	3393	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)			54					TGTAATGGCCTCATTTACTTC	0.428000																								0							SO:0001583	missense			ENST00000202677.7	1	1	hg19	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716597	0.15306	.	.	ENSG00000188559	ENST00000202677	D	0.94862	-3.54	5.63	3.17	0.36434	.	0.167881	0.52532	D	0.000075	D	0.86690	0.5993	N	0.25485	0.75	0.36334	D	0.85907	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80204	-0.1479	10	0.08837	T	0.75	.	8.4392	0.32805	0.0:0.0699:0.1307:0.7994	.	967;1129	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	A	1129	ENSP00000202677:E1129A	ENSP00000202677:E1129A	E	-	2	0	RALGAPA2	20465328	0.989000	0.36119	0.128000	0.21923	0.055000	0.15305	2.923000	0.48868	2.150000	0.67090	0.455000	0.32223	GAG		TCGA-IB-7651-01A-11D-2154-08	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	1	0	1	32	121	0	29	1	9.997662e-01	23	30	0	29	2		0	0	0	0	0	2	1	1	32	120	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGAPA2	57186	broad.mit.edu	37	20	20620538	20620538	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20620538A>G	ENST00000202677.7	-	7	564	c.557T>C	c.(556-558)aTa>aCa	p.I186T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)			54					TTCTGGATATATCTTTACTGA	0.343000																								0							SO:0001583	missense			ENST00000202677.7	1	1	hg19	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.27|14.27	2.484649|2.484649	0.44147|0.44147	0.0|0.0	1.22E-4|1.22E-4	ENSG00000188559|ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161|ENST00000430436	T;T;T|.	0.77098|.	-1.07;-1.07;-1.07|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.144833|.	0.64402|.	D|.	0.000006|.	T|T	0.71617|0.71617	0.3361|0.3361	M|M	0.62723|0.62723	1.935|1.935	0.44780|0.44780	D|D	0.99778|0.99778	P|.	0.44627|.	0.839|.	B|.	0.33454|.	0.164|.	T|T	0.70615|0.70615	-0.4823|-0.4823	10|5	0.51188|.	T|.	0.08|.	.|.	15.6105|15.6105	0.76713|0.76713	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	186|.	Q2PPJ7|.	RGPA2_HUMAN|.	T|H	186;38;38;186|3	ENSP00000202677:I186T;ENSP00000400901:I38T;ENSP00000412795:I186T|.	ENSP00000202677:I186T|.	I|Y	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20568538|20568538	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.501000|0.501000	0.33797|0.33797	8.502000|8.502000	0.90505|0.90505	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	ATA|TAT		TCGA-IB-7651-01A-11D-2154-08	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	1	0	1	91	376	0	95	1	9.192810e-01	3	17	0	95	2		0	0	0	0	0	2	1	1	90	369	0	94	2								-20.000000	1	1	120786	1	26	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK35	140901	broad.mit.edu	37	20	2097346	2097346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2097346C>T	ENST00000381482.3	+	3	1198	c.927C>T	c.(925-927)tgC>tgT	p.C309C	STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Silent_p.C176C			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35			13					AGGAGCCCTGCTATCTCTGGT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000381482.3	1	1	hg19	CCDS13024.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	0	0	1	122	578	1	126	1	9.227927e-01	9	22	1	126	3		0	0	0	0	0	2	1	1	119	574	1	126	19								-20.000000	1	1	121412	1	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XRN2	22803	broad.mit.edu	37	20	21306927	21306927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21306927G>A	ENST00000377191.3	+	2	181	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	XRN2_ENST00000430571.2_Intron|XRN2_ENST00000539513.1_5'UTR	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2			39					CCAAAAGAATGCAATGGTGTA	0.343000																								0							SO:0001583	missense			ENST00000377191.3	1	1	hg19	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683201	0.14907	2.27E-4	0.0	ENSG00000088930	ENST00000377191	T	0.29397	1.57	5.62	4.64	0.57946	Putative 5-3 exonuclease (1);	0.042575	0.85682	D	0.000000	T	0.16128	0.0388	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.07616	-1.0763	10	0.09590	T	0.72	-12.7852	15.9854	0.80147	0.0:0.0:0.8651:0.1349	.	29	Q9H0D6	XRN2_HUMAN	Y	29	ENSP00000366396:C29Y	ENSP00000366396:C29Y	C	+	2	0	XRN2	21254927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.266000	0.65525	2.648000	0.89879	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	1	0	1	34	174	0	45	1	1	73	154	0	45	2		0	0	0	0	0	2	1	1	32	171	0	45	2								-20.000000	1	1	121410	2	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
XRN2	22803	broad.mit.edu	37	20	21314400	21314400	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21314400G>T	ENST00000377191.3	+	11	1087	c.992G>T	c.(991-993)aGc>aTc	p.S331I	XRN2_ENST00000430571.2_Missense_Mutation_p.S255I|XRN2_ENST00000539513.1_Missense_Mutation_p.S277I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2			39					GTTGAGAGGAGCATTGATGAC	0.418000																								0							SO:0001583	missense			ENST00000377191.3	1	1	hg19	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009093	0.54361	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.25749	1.78;1.78;1.78	5.83	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.05199	-0.095	0.80722	D	1	B	0.25441	0.126	B	0.18561	0.022	T	0.12708	-1.0537	10	0.02654	T	1	-15.4121	11.5221	0.50558	0.0655:0.0:0.8104:0.1241	.	331	Q9H0D6	XRN2_HUMAN	I	331;255;277	ENSP00000366396:S331I;ENSP00000413548:S255I;ENSP00000441113:S277I	ENSP00000366396:S331I	S	+	2	0	XRN2	21262400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.982000	0.88131	1.456000	0.47831	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	1	0	1	260	1145	0	252	1	1	89	231	0	252	2		0	0	0	0	0	2	1	1	258	1127	0	250	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XRN2	22803	broad.mit.edu	37	20	21346218	21346218	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21346218G>T	ENST00000377191.3	+	26	2427	c.2332G>T	c.(2332-2334)Gca>Tca	p.A778S	XRN2_ENST00000430571.2_Missense_Mutation_p.A702S|XRN2_ENST00000539513.1_Missense_Mutation_p.A724S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2			39					CAGAAAGCCAGCAGCAGTACT	0.443000																								0							SO:0001583	missense			ENST00000377191.3	1	1	hg19	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191333	0.21954	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.17854	2.25;2.25;2.25	5.95	4.02	0.46733	.	0.315883	0.38837	N	0.001552	T	0.07999	0.0200	N	0.16903	0.455	0.26128	N	0.980453	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	10	0.09084	T	0.74	-5.6952	5.5639	0.17160	0.1286:0.1125:0.6428:0.1161	.	778	Q9H0D6	XRN2_HUMAN	S	778;702;724	ENSP00000366396:A778S;ENSP00000413548:A702S;ENSP00000441113:A724S	ENSP00000366396:A778S	A	+	1	0	XRN2	21294218	0.996000	0.38824	0.998000	0.56505	0.486000	0.33341	0.564000	0.23563	0.867000	0.35654	-0.136000	0.14681	GCA		TCGA-IB-7651-01A-11D-2154-08	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	1	0	1	67	345	0	81	1	1	94	238	0	81	2		0	0	0	0	0	2	1	1	66	338	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKX2-4	644524	broad.mit.edu	37	20	21376850	21376850	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21376850T>G	ENST00000351817.4	-	2	1392	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4			3					CTGCTGCAGCTGCTGCGCCGC	0.701000																								0							SO:0001583	missense			ENST00000351817.4	1	1	hg19	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497531	0.44455	.	.	ENSG00000125816	ENST00000351817	D	0.92099	-2.97	3.6	2.42	0.29668	.	0.000000	0.38663	U	0.001620	D	0.92028	0.7474	L	0.60455	1.87	0.47994	D	0.99956	D	0.53885	0.963	P	0.55785	0.784	D	0.88340	0.2974	10	0.30854	T	0.27	.	9.2714	0.37673	0.0:0.0:0.1828:0.8172	.	255	Q9H2Z4	NKX24_HUMAN	P	255	ENSP00000345147:Q255P	ENSP00000345147:Q255P	Q	-	2	0	NKX2-4	21324850	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.288000	0.78691	0.402000	0.25451	0.397000	0.26171	CAG		TCGA-IB-7651-01A-11D-2154-08	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2	1	0	0	15	59	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999308e-01	15	59	0	16	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999802	0.990000	1	9.900000e-01	1
NKX2-2	4821	broad.mit.edu	37	20	21492786	21492786	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21492786C>T	ENST00000377142.4	-	2	953	c.597G>A	c.(595-597)tcG>tcA	p.S199S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2			21					CCCGGCGCGGCGAGGGCAGGG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000377142.4	1	1	hg19	CCDS13145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9	1	0	0	30	253	0	34	0	3.778761e-01	0	12	0	34	2		0	0	0	0	0	2	1	1	30	248	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.870000	1.000000	1.000000	0.991879	0.990000	1	9.900000e-01	1
NKX2-2	4821	broad.mit.edu	37	20	21494152	21494152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21494152G>A	ENST00000377142.4	-	1	512	c.156C>T	c.(154-156)gcC>gcT	p.A52A	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2			21					CCGCGTCCAGGGCGCCCTGCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000377142.4	1	1	hg19	CCDS13145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9	1	0	0	50	173	0	28	0	3.184873e-01	0	5	0	28	2		0	0	0	0	0	2	1	1	49	166	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGM3	7053	broad.mit.edu	37	20	2298000	2298000	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2298000G>A	ENST00000381458.5	+	7	915	c.852G>A	c.(850-852)ctG>ctA	p.L284L	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3			39				L-Glutamine(DB00130)	TTGCAGCGCTGCGGTCTTTGG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000381458.5	1	1	hg19	CCDS33435.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	0	0	1	103	526	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	98	514	0	115	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR4	6754	broad.mit.edu	37	20	23016359	23016359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016359C>T	ENST00000255008.3	+	1	303	c.239C>T	c.(238-240)aCg>aTg	p.T80M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	p.T80M(1)		32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				AAGATGAAGACGGCTACCAAC	0.632000													Esophageal Squamous(15;850 1104 16640)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000255008.3	1	1	hg19	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223631	0.79576	.	.	ENSG00000132671	ENST00000255008	T	0.46819	0.86	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000005	T	0.74222	0.3688	M	0.92970	3.365	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	T	0.82368	-0.0492	10	0.87932	D	0	.	14.3291	0.66541	0.0:1.0:0.0:0.0	.	80	P31391	SSR4_HUMAN	M	80	ENSP00000255008:T80M	ENSP00000255008:T80M	T	+	2	0	SSTR4	22964359	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.256000	0.65468	1.811000	0.52892	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1	1	0	1	166	807	0	155		0	0	0	0	155	2		0	0	0	0	0	2	1	1	165	796	0	154	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR4	6754	broad.mit.edu	37	20	23016448	23016448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016448C>T	ENST00000255008.3	+	1	392	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4			32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				GGCCGCCCTGCGCCACTGGCC	0.642000													Esophageal Squamous(15;850 1104 16640)											0							SO:0001583	missense			ENST00000255008.3	1	1	hg19	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357829	0.61403	.	.	ENSG00000132671	ENST00000255008	T	0.20463	2.07	3.73	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.181706	0.36854	U	0.002378	T	0.39064	0.1064	M	0.76328	2.33	0.39071	D	0.96071	D	0.61697	0.99	P	0.61658	0.892	T	0.31530	-0.9940	10	0.51188	T	0.08	.	9.8498	0.41051	0.0:0.8954:0.0:0.1045	.	110	P31391	SSR4_HUMAN	C	110	ENSP00000255008:R110C	ENSP00000255008:R110C	R	+	1	0	SSTR4	22964448	0.663000	0.27448	0.988000	0.46212	0.966000	0.64601	1.491000	0.35583	0.765000	0.33221	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1	1	0	1	90	769	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	90	758	0	152	2								-20.000000	1	0	121224	2	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999285	0.990000	1	9.900000e-01	1
SSTR4	6754	broad.mit.edu	37	20	23016594	23016594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016594G>A	ENST00000255008.3	+	1	538	c.474G>A	c.(472-474)cgG>cgA	p.R158R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4			32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				CGACCTACCGGCGGCCCAGCG	0.662000													Esophageal Squamous(15;850 1104 16640)											0							SO:0001819	synonymous_variant			ENST00000255008.3	1	1	hg19	CCDS42856.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1	1	0	1	107	420	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	105	417	0	61	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR4	6754	broad.mit.edu	37	20	23016650	23016650	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016650T>A	ENST00000255008.3	+	1	594	c.530T>A	c.(529-531)gTc>gAc	p.V177D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4			32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				TCCCTGTTGGTCACTCTCCCC	0.706000													Esophageal Squamous(15;850 1104 16640)											0							SO:0001583	missense			ENST00000255008.3	1	1	hg19	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114789	0.56505	.	.	ENSG00000132671	ENST00000255008	T	0.74421	-0.84	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000039	D	0.87549	0.6205	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89683	0.3892	10	0.87932	D	0	.	11.6214	0.51119	0.0:0.0:0.0:1.0	.	177	P31391	SSR4_HUMAN	D	177	ENSP00000255008:V177D	ENSP00000255008:V177D	V	+	2	0	SSTR4	22964650	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	4.361000	0.59461	1.603000	0.50134	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1	1	0	1	113	481	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	104	426	0	67	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THBD	7056	broad.mit.edu	37	20	23028870	23028870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028870G>T	ENST00000377103.2	-	1	1508	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin			7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)			Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GGCACTCACAGCTAGCCTGGG	0.627000																								0							SO:0001583	missense			ENST00000377103.2	1	1	hg19	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734723	0.03111	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80033	-1.33	4.82	0.818	0.18778	Epidermal growth factor-like (1);Thrombomodulin-like, EGF-like (1);	3.352840	0.01083	N	0.005028	T	0.67887	0.2941	L	0.40543	1.245	0.09310	N	0.999991	B	0.33755	0.424	B	0.23018	0.043	T	0.49753	-0.8906	10	0.13470	T	0.59	1.1772	4.183	0.10385	0.313:0.0:0.531:0.156	.	424	P07204	TRBM_HUMAN	R	424;406	ENSP00000366307:S424R	ENSP00000366307:S424R	S	-	3	2	THBD	22976870	0.015000	0.18098	0.003000	0.11579	0.004000	0.04260	0.108000	0.15396	-0.124000	0.11724	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2	1	0	1	63	375	0	90	1	9.989860e-01	8	55	0	90	2		0	0	0	0	0	2	1	1	63	367	0	89	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
THBD	7056	broad.mit.edu	37	20	23028930	23028930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028930G>T	ENST00000377103.2	-	1	1448	c.1212C>A	c.(1210-1212)tgC>tgA	p.C404*		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin			7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)			Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	AAAACATCTGGCACCTGTGCG	0.617000																								0							SO:0001587	stop_gained			ENST00000377103.2	0	1	hg19	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097120	0.97281	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	.	.	.	4.82	0.672	0.17935	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5519	10.665	0.45726	0.3007:0.0:0.6993:0.0	.	.	.	.	X	404;386	.	ENSP00000366307:C404X	C	-	3	2	THBD	22976930	0.014000	0.17966	0.743000	0.31040	0.578000	0.36192	0.062000	0.14389	-0.093000	0.12396	-1.134000	0.01955	TGC		TCGA-IB-7651-01A-11D-2154-08	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2	1	0	1	83	412	0	105	1	9.829919e-01	3	31	0	105	2		0	0	0	0	0	2	1	1	79	398	0	101	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THBD	7056	broad.mit.edu	37	20	23029298	23029298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23029298C>T	ENST00000377103.2	-	1	1080	c.844G>A	c.(844-846)Gca>Aca	p.A282T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin			7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)			Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GTCGCGGATGCGGTGCAGGAG	0.711000																								0							SO:0001583	missense			ENST00000377103.2	0	1	hg19	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	C	3.938	-0.014850	0.07681	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	D	0.87412	-2.25	4.97	-6.89	0.01660	.	20.087100	0.00951	N	0.002973	T	0.71434	0.3339	N	0.17248	0.465	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.58618	-0.7605	10	0.25751	T	0.34	0.825	2.2655	0.04077	0.1731:0.1485:0.3999:0.2785	.	282	P07204	TRBM_HUMAN	T	282;264	ENSP00000366307:A282T	ENSP00000366307:A282T	A	-	1	0	THBD	22977298	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.243000	0.02905	-0.791000	0.04486	0.449000	0.29647	GCA		TCGA-IB-7651-01A-11D-2154-08	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2	0	0	0	6	88	0	12	0	1.677329e-01	1	9	0	12	2		0	0	0	0	0	2	1	9.642805e-01	5	87	0	12	2								-10.431030	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.800000	0.330000	1.000000	1.000000	0.776397	0.800000	0	5.300000e-01	1
CD93	22918	broad.mit.edu	37	20	23065886	23065886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23065886G>A	ENST00000246006.4	-	1	1091	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule			39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)				GACGCACGTGGCCCCCCCACG	0.632000																								0							SO:0001583	missense			ENST00000246006.4	1	1	hg19	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373803	0.24857	.	.	ENSG00000125810	ENST00000246006	D	0.88431	-2.38	5.42	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.115159	0.38778	N	0.001580	D	0.86665	0.5987	M	0.83483	2.645	0.09310	N	1	B	0.28760	0.221	B	0.22386	0.039	T	0.73757	-0.3882	10	0.17832	T	0.49	-22.1666	8.9853	0.35990	0.076:0.0:0.7781:0.1459	.	315	Q9NPY3	C1QR1_HUMAN	V	315	ENSP00000246006:A315V	ENSP00000246006:A315V	A	-	2	0	CD93	23013886	0.009000	0.17119	0.024000	0.17045	0.049000	0.14656	1.116000	0.31221	1.386000	0.46466	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	0	0	1	80	402	0	74	0	9.999999e-01	0	115	0	74	2		0	0	0	0	0	2	1	1	79	398	0	71	2								-1.767380	0	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD93	22918	broad.mit.edu	37	20	23066450	23066450	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066450T>C	ENST00000246006.4	-	1	527	c.380A>G	c.(379-381)aAc>aGc	p.N127S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule			39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)				CTTGTGCCAGTTAGAGTAAGG	0.642000																								0							SO:0001583	missense			ENST00000246006.4	1	1	hg19	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598365	0.66332	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.20463	2.07	5.49	5.49	0.81192	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.184763	0.37857	N	0.001901	T	0.42517	0.1206	M	0.64080	1.96	0.42882	D	0.994172	D	0.89917	1.0	D	0.76071	0.987	T	0.34179	-0.9839	10	0.66056	D	0.02	-56.0508	12.2766	0.54739	0.0:0.0:0.1411:0.8589	.	127	Q9NPY3	C1QR1_HUMAN	S	127	ENSP00000246006:N127S	ENSP00000246006:N127S	N	-	2	0	CD93	23014450	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	1.684000	0.37649	2.194000	0.70268	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	1	0	0	18	98	0	25	0	9.917561e-01	0	46	0	25	2		0	0	0	0	0	2	1	9.999865e-01	18	95	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999336	0.990000	1	9.900000e-01	1
CD93	22918	broad.mit.edu	37	20	23066551	23066551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066551G>A	ENST00000246006.4	-	1	426	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule			39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)				GCCCAATCCAGAACTTGCTCA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000246006.4	1	1	hg19	CCDS13149.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	1	0	1	14	60	0	13	0	9.984437e-01	0	52	0	13	2		0	0	0	0	0	2	1	9.998552e-01	14	60	0	13	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999544	0.990000	1	9.900000e-01	1
CD93	22918	broad.mit.edu	37	20	23066662	23066662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066662G>A	ENST00000246006.4	-	1	315	c.168C>T	c.(166-168)aaC>aaT	p.N56N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule			39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)				GGTTGCCCCCGTTCTGGTTGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000246006.4	0	1	hg19	CCDS13149.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	1	0	1	15	86	0	11	0	9.978360e-01	0	63	0	11	2		0	0	0	0	0	2	1	9.999013e-01	15	84	0	11	2								-19.999990	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.998063	0.990000	1	9.900000e-01	1
TGM3	7053	broad.mit.edu	37	20	2308989	2308989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2308989G>A	ENST00000381458.5	+	9	1374	c.1311G>A	c.(1309-1311)acG>acA	p.T437T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3			39				L-Glutamine(DB00130)	TGGACGTCACGGACAAGTACA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000381458.5	1	1	hg19	CCDS33435.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	1	0	1	44	199	0	65	0	3.434545e-02	1	1	0	65	2		0	0	0	0	0	2	1	1	41	194	0	65	2								-3.044849	1	1	121412	1	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NXT1	29107	broad.mit.edu	37	20	23335079	23335079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23335079G>A	ENST00000254998.2	+	2	788	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.5_ENST00000452395.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.7_ENST00000442884.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1			6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)				GACTGCTTCCGCTTCCAGGAC	0.542000																								0							SO:0001583	missense			ENST00000254998.2	1	1	hg19	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105331	0.77096	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.22	2.17	0.27698	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.116909	0.56097	D	0.000030	T	0.81004	0.4733	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79876	-0.1618	9	0.87932	D	0	.	6.9031	0.24293	0.1619:0.1449:0.6931:0.0	.	134	Q9UKK6	NXT1_HUMAN	H	134	.	ENSP00000254998:R134H	R	+	2	0	NXT1	23283079	1.000000	0.71417	0.940000	0.37924	0.968000	0.65278	9.069000	0.93967	0.438000	0.26450	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	1	0	1	46	179	0	60	1	1	73	152	0	60	2		0	0	0	0	0	2	1	1	44	178	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GZF1	64412	broad.mit.edu	37	20	23345726	23345726	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23345726C>T	ENST00000338121.5	+	2	783	c.706C>T	c.(706-708)Cct>Tct	p.P236S	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.P236S			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1			24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)				TGTGGAGATCCCTAAAAAGAA	0.507000																								0							SO:0001583	missense			ENST00000338121.5	1	1	hg19	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450553	0.43531	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.09538	2.97;2.97	4.02	4.02	0.46733	.	0.000000	0.56097	D	0.000024	T	0.20577	0.0495	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04961	-1.0915	10	0.11182	T	0.66	.	15.6958	0.77494	0.0:1.0:0.0:0.0	.	236	Q9H116	GZF1_HUMAN	S	236	ENSP00000338290:P236S;ENSP00000366250:P236S	ENSP00000338290:P236S	P	+	1	0	GZF1	23293726	0.549000	0.26481	1.000000	0.80357	0.383000	0.30230	3.029000	0.49712	2.245000	0.73994	0.544000	0.68410	CCT		TCGA-IB-7651-01A-11D-2154-08	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	1	0	1	54	245	0	58	1	9.925935e-01	2	35	0	58	2		0	0	0	0	0	2	1	1	53	240	0	58	2								-2.946914	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GZF1	64412	broad.mit.edu	37	20	23346039	23346039	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23346039A>G	ENST00000338121.5	+	2	1096	c.1019A>G	c.(1018-1020)cAc>cGc	p.H340R	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1			24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)				AAGCACCGCCACGGCGTGGCC	0.592000																								0							SO:0001583	missense			ENST00000338121.5	1	1	hg19	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	8.724	0.914995	0.17907	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.28895	1.59;1.59	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000006	T	0.22244	0.0536	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.05784	-1.0864	10	0.59425	D	0.04	.	12.808	0.57624	1.0:0.0:0.0:0.0	.	340	Q9H116	GZF1_HUMAN	R	340	ENSP00000338290:H340R;ENSP00000366250:H340R	ENSP00000338290:H340R	H	+	2	0	GZF1	23294039	1.000000	0.71417	0.536000	0.28039	0.013000	0.08279	9.087000	0.94110	1.879000	0.54435	0.455000	0.32223	CAC		TCGA-IB-7651-01A-11D-2154-08	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	0	0	1	106	597	0	119	1	8.794344e-01	6	17	0	119	2		0	0	0	0	0	2	1	1	106	584	0	119	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GZF1	64412	broad.mit.edu	37	20	23350348	23350348	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350348C>T	ENST00000338121.5	+	5	1832	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	GZF1_ENST00000544236.1_Silent_p.T109T|GZF1_ENST00000542987.1_Silent_p.T94T|GZF1_ENST00000377051.2_Silent_p.T585T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1			24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)				GGACATTCACCGACAAGTCCA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000338121.5	1	1	hg19	CCDS13151.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	1	0	1	75	360	0	98	1	9.982887e-01	10	38	0	98	2		0	0	0	0	0	2	1	1	74	351	0	98	2								-2.594753	1	0	121412	1	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GZF1	64412	broad.mit.edu	37	20	23350364	23350364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350364C>T	ENST00000338121.5	+	5	1848	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GZF1_ENST00000544236.1_Missense_Mutation_p.R115W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W|GZF1_ENST00000377051.2_Missense_Mutation_p.R591W			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1			24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)				GTCCACTCTTCGGCGGCACAC	0.562000																								0							SO:0001583	missense			ENST00000338121.5	1	1	hg19	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869343	0.91587	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.35973	3.16;1.28;3.16;1.28	5.95	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000097	T	0.58119	0.2100	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57763	-0.7755	10	0.37606	T	0.19	.	15.7072	0.77592	0.1377:0.8623:0.0:0.0	.	591	Q9H116	GZF1_HUMAN	W	115;591;100;591	ENSP00000445458:R115W;ENSP00000338290:R591W;ENSP00000445118:R100W;ENSP00000366250:R591W	ENSP00000338290:R591W	R	+	1	2	GZF1	23298364	0.988000	0.35896	0.996000	0.52242	0.969000	0.65631	4.887000	0.63156	1.507000	0.48752	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	1	0	1	66	310	0	92	1	9.884021e-01	4	31	0	92	2		0	0	0	0	0	2	1	1	66	304	0	92	2								-3.133733	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GZF1	64412	broad.mit.edu	37	20	23350738	23350738	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350738A>C	ENST00000338121.5	+	6	1873	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	GZF1_ENST00000544236.1_Missense_Mutation_p.K123T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T|GZF1_ENST00000377051.2_Missense_Mutation_p.K599T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1			24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)				ATACACGATAAGAATACTCCA	0.403000																								0							SO:0001583	missense			ENST00000338121.5	1	1	hg19	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671775	0.67928	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.11385	3.2;2.78;3.2;2.78	5.92	5.92	0.95590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.23330	0.0564	L	0.28740	0.885	0.51012	D	0.999908	D	0.89917	1.0	D	0.85130	0.997	T	0.01074	-1.1460	10	0.72032	D	0.01	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	599	Q9H116	GZF1_HUMAN	T	123;599;108;599	ENSP00000445458:K123T;ENSP00000338290:K599T;ENSP00000445118:K108T;ENSP00000366250:K599T	ENSP00000338290:K599T	K	+	2	0	GZF1	23298738	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.209000	0.58493	2.263000	0.75096	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	1	0	1	42	167	0	41	1	9.815461e-01	7	21	0	41	2		0	0	0	0	0	2	1	1	40	164	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23433311G>A	ENST00000377009.3	-	1	171	c.138C>T	c.(136-138)gaC>gaT	p.D46D	CST11_ENST00000377007.3_Silent_p.D46D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11			14	Colorectal(13;0.0431)|Lung NSC(19;0.235)				ACTGCAAGCTGTCCTTCGCAT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000377009.3	1	1	hg19	CCDS13155.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	1	0	1	172	660	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1	170	647	0	150	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CST9L	128821	broad.mit.edu	37	20	23548955	23548955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23548955G>A	ENST00000376979.3	-	1	431	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like			8	Colorectal(13;0.0431)|Lung NSC(19;0.235)				GGGAGGTAACGAGCCATGACA	0.522000																								0							SO:0001583	missense			ENST00000376979.3	1	1	hg19	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925552	0.52759	.	.	ENSG00000101435	ENST00000376979	T	0.12984	2.63	1.75	-3.11	0.05299	Proteinase inhibitor I25, cystatin (1);	12.943200	0.00166	N	0.000000	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.56088	0.791	T	0.18023	-1.0350	10	0.59425	D	0.04	.	4.0382	0.09740	0.0:0.2234:0.3274:0.4491	.	45	Q9H4G1	CST9L_HUMAN	C	45	ENSP00000366178:R45C	ENSP00000366178:R45C	R	-	1	0	CST9L	23496955	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-3.436000	0.00471	-0.674000	0.05253	0.313000	0.20887	CGT		TCGA-IB-7651-01A-11D-2154-08	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	1	0	1	28	230	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	26	218	0	62	2								-3.318818	1	1	121394	3	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.880000	1.000000	1.000000	0.992858	0.990000	1	9.900000e-01	1
CST9L	128821	broad.mit.edu	37	20	23549084	23549084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23549084G>T	ENST00000376979.3	-	1	302	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like			8	Colorectal(13;0.0431)|Lung NSC(19;0.235)				GGCAGGCCCAGCATGGTGCTG	0.577000																								0							SO:0001583	missense			ENST00000376979.3	0	1	hg19	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	8.927	0.962408	0.18583	.	.	ENSG00000101435	ENST00000376979	T	0.14516	2.5	1.94	-3.45	0.04781	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.40440	-0.9563	9	0.21014	T	0.42	.	2.7249	0.05211	0.4778:0.0:0.3052:0.217	.	2	Q9H4G1	CST9L_HUMAN	M	2	ENSP00000366178:L2M	ENSP00000366178:L2M	L	-	1	2	CST9L	23497084	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.321000	0.02697	-0.956000	0.03631	0.313000	0.20887	CTG		TCGA-IB-7651-01A-11D-2154-08	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	1	0	0	9	118	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.936989e-01	9	113	0	19	2								-14.030420	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.870000	0.430000	1.000000	1.000000	0.830473	0.870000	1	6.200000e-01	1
CST3	1471	broad.mit.edu	37	20	23614613	23614613	+	Silent	SNP	G	G	T	rs1135147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23614613G>T	ENST00000398411.1	-	3	463	c.381C>A	c.(379-381)atC>atA	p.I127I	CST3_ENST00000376925.3_Silent_p.I127I|RP11-218C14.8_ENST00000602977.1_lincRNA|CST3_ENST00000398409.1_Silent_p.I127I			P01034	CYTC_HUMAN	cystatin C			4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)				GCACAGCGTAGATCTGGAAAG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000398411.1	0	1	hg19	CCDS13158.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	0	0	0	9	283	0	81	1	1	52	5386	0	81	2		0	0	0	0	0	2	1	9.941425e-01	9	280	0	81	2								-9.686800	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.380000	0.180000	1.000000	0.360000	0.424069	0.380000	0	2.700000e-01	5.400000e-01
CST2	1470	broad.mit.edu	37	20	23807102	23807102	+	Missense_Mutation	SNP	G	G	A	rs112783512	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807102G>A	ENST00000304725.2	-	1	266	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA			10					CGCAGCAGGCGTCTGTAGTAC	0.557000													Pancreas(193;496 3017 22514 29918)											0							SO:0001583	missense			ENST00000304725.2	1	1	hg19	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165527	0.21538	6.81E-4	3.49E-4	ENSG00000170369	ENST00000304725	T	0.28255	1.62	2.0	0.943	0.19531	Proteinase inhibitor I25, cystatin (2);	0.376195	0.24379	N	0.039032	T	0.43233	0.1238	M	0.91612	3.225	0.09310	N	0.999999	P	0.40211	0.707	P	0.45119	0.47	T	0.39800	-0.9596	10	0.62326	D	0.03	.	5.7627	0.18209	0.0:0.0:0.6868:0.3132	.	66	P09228	CYTT_HUMAN	C	66	ENSP00000307540:R66C	ENSP00000307540:R66C	R	-	1	0	CST2	23755102	0.154000	0.22792	0.011000	0.14972	0.041000	0.13682	0.699000	0.25586	0.135000	0.18707	0.298000	0.19748	CGC		TCGA-IB-7651-01A-11D-2154-08	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2	1	0	1	43	222	0	46	0	1	0	551	0	46	2		0	0	0	0	0	2	1	1	43	220	0	45	2								-20.000000	1	0	121412	21	47	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CST2	1470	broad.mit.edu	37	20	23807128	23807128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807128T>C	ENST00000304725.2	-	1	240	c.170A>G	c.(169-171)aAg>aGg	p.K57R		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA			10					TTCAGTGGCCTTGTTATACTC	0.572000													Pancreas(193;496 3017 22514 29918)											0							SO:0001583	missense			ENST00000304725.2	1	1	hg19	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	T	5.075	0.199532	0.09652	.	.	ENSG00000170369	ENST00000304725	T	0.14640	2.49	1.88	1.88	0.25563	Proteinase inhibitor I25, cystatin (2);	0.552916	0.18943	N	0.126892	T	0.14485	0.0350	M	0.62723	1.935	0.09310	N	1	B	0.18863	0.031	B	0.30855	0.121	T	0.19745	-1.0296	10	0.31617	T	0.26	.	5.7205	0.17985	0.0:0.0:0.0:1.0	.	57	P09228	CYTT_HUMAN	R	57	ENSP00000307540:K57R	ENSP00000307540:K57R	K	-	2	0	CST2	23755128	0.097000	0.21791	0.004000	0.12327	0.024000	0.10985	0.474000	0.22148	0.858000	0.35431	0.248000	0.18094	AAG		TCGA-IB-7651-01A-11D-2154-08	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2	1	0	0	27	292	0	51	0	1	0	549	0	51	2		0	0	0	0	0	2	1	1	27	291	0	50	2								-9.355260	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.680000	1.000000	1.000000	0.938381	0.990000	1	8.300000e-01	1
TGM6	343641	broad.mit.edu	37	20	2384147	2384147	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2384147G>T	ENST00000202625.2	+	8	1154		c.e8+1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6			52				L-Glutamine(DB00130)	GAGAGTGAAGGTACGCTCAAT	0.602000																								0							SO:0001630	splice_region_variant			ENST00000202625.2	1	1	hg19	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336713	0.60963	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0187	0.80464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM6	2332147	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.866000	0.99616	2.735000	0.93741	0.549000	0.68633	.		TCGA-IB-7651-01A-11D-2154-08	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	1	0	1	110	436	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	110	427	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGM6	343641	broad.mit.edu	37	20	2398031	2398031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2398031G>A	ENST00000202625.2	+	10	1551	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6			52				L-Glutamine(DB00130)	AGCATCGCTGGCAAGTTCAAG	0.652000																								0							SO:0001583	missense			ENST00000202625.2	1	1	hg19	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195447	0.58126	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.68624	-0.34;-0.34	4.67	4.67	0.58626	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.062472	0.64402	D	0.000004	T	0.80813	0.4695	M	0.79258	2.445	0.42971	D	0.994436	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83263	-0.0047	10	0.72032	D	0.01	-38.5886	12.9459	0.58371	0.0:0.0:1.0:0.0	.	497;497	O95932-2;O95932	.;TGM3L_HUMAN	D	497	ENSP00000202625:G497D;ENSP00000370831:G497D	ENSP00000202625:G497D	G	+	2	0	TGM6	2346031	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.429000	0.66495	2.437000	0.82529	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	1	0	1	42	148	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	42	147	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF343	79175	broad.mit.edu	37	20	2463857	2463857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2463857G>A	ENST00000278772.4	-	6	2237	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	p.R584*(1)		25					CTAAAGCCTCGCCCACACTCC	0.522000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000278772.4	0	1	hg19	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	G	38	7.002011	0.97994	.	.	ENSG00000088876	ENST00000278772	.	.	.	2.65	0.578	0.17391	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	2.4345	0.04479	0.2901:0.0:0.4746:0.2353	.	.	.	.	X	584	.	ENSP00000278772:R584X	R	-	1	2	ZNF343	2411857	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.504000	0.06375	0.035000	0.15519	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	1	0	1	64	288	0	76	1	9.660685e-01	7	20	0	76	2		0	0	0	0	0	2	1	1	62	282	0	74	2								-20.000000	1	1	121412	2	29	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CST7	8530	broad.mit.edu	37	20	24940294	24940294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24940294C>T	ENST00000480798.1	+	4	660	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CST7_ENST00000376835.2_Silent_p.V150V	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)			5					ACTCTGAAGTCTGGGTCGTGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000480798.1	1	1	hg19	CCDS13165.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	1	0	1	82	394	0	96	0	9.998961e-01	0	66	0	96	2		0	0	0	0	0	2	1	1	82	384	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSS1	84532	broad.mit.edu	37	20	25003612	25003612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25003612C>T	ENST00000323482.4	-	5	1003	c.924G>A	c.(922-924)caG>caA	p.Q308Q	ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000537502.1_Silent_p.Q225Q	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1			26				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTAGCCTGCCTGGGTATGGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000323482.4	1	1	hg19	CCDS13167.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	1	0	1	17	148	0	39	1	9.712996e-01	15	39	0	39	2		0	0	0	0	0	2	1	9.999678e-01	17	144	0	39	2								-19.999990	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.750000	1.000000	1.000000	0.976694	0.990000	1	9.600000e-01	1
ENTPD6	955	broad.mit.edu	37	20	25203540	25203540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25203540C>T	ENST00000376652.4	+	12	1275	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M|ENTPD6_ENST00000360031.2_Missense_Mutation_p.T370M			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)			27					GTGCACAGGACGGAGGAAGTG	0.577000																								0							SO:0001583	missense			ENST00000376652.4	1	1	hg19	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701382|2.701382	0.48307|0.48307	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000433259	.|T;T;T;T	.|0.18338	.|2.61;2.61;2.61;2.22	5.67|5.67	1.65|1.65	0.23941|0.23941	.|.	.|0.362158	.|0.32357	.|N	.|0.006218	T|T	0.32615|0.32615	0.0835|0.0835	M|M	0.71036|0.71036	2.16|2.16	0.09310|0.09310	N|N	1|1	.|P;D;D;D;P;D;D;D	.|0.62365	.|0.889;0.991;0.985;0.991;0.889;0.973;0.991;0.991	.|B;P;P;P;P;P;P;P	.|0.60236	.|0.287;0.829;0.806;0.871;0.541;0.671;0.79;0.79	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.72032	.|D	.|0.01	-6.0596|-6.0596	9.8497|9.8497	0.41048|0.41048	0.0:0.7265:0.0:0.2735|0.0:0.7265:0.0:0.2735	.|.	.|119;353;371;337;354;370;370;371	.|B4DHS2;B4DDM7;B4DNK6;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;ENTP6_HUMAN	W|M	292;230|354;370;291;267;371;337	.|ENSP00000347084:T354M;ENSP00000353131:T370M;ENSP00000365840:T371M;ENSP00000401895:T337M	.|ENSP00000347084:T354M	R|T	+|+	1|2	2|0	ENTPD6|ENTPD6	25151540|25151540	0.079000|0.079000	0.21365|0.21365	0.000000|0.000000	0.03702|0.03702	0.638000|0.638000	0.38207|0.38207	2.982000|2.982000	0.49337|0.49337	0.086000|0.086000	0.17137|0.17137	0.462000|0.462000	0.41574|0.41574	CGG|ACG		TCGA-IB-7651-01A-11D-2154-08	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2	1	0	1	128	590	0	139	1	1	61	109	0	139	2		0	0	0	0	0	2	1	1	126	577	0	136	2								-20.000000	1	1	121412	5	40	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENTPD6	955	broad.mit.edu	37	20	25205907	25205907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205907G>T	ENST00000376652.4	+	14	1473	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I|ENTPD6_ENST00000360031.2_Missense_Mutation_p.S436I			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)			27					ACCTACGTCAGCCTGCTACTC	0.607000																								0							SO:0001583	missense			ENST00000376652.4	1	1	hg19	CCDS13170.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.619|6.619|6.619	0.482540|0.482540|0.482540	0.12581|0.12581|0.12581	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000376641;ENST00000433259|ENST00000354989;ENST00000360031;ENST00000376652	.|T|T;T;T	.|0.19394|0.13778	.|2.15|2.56;2.56;2.56	5.76|5.76|5.76	3.79|3.79|3.79	0.43588|0.43588|0.43588	.|.|.	.|.|0.144262	.|.|0.64402	.|.|D	.|.|0.000006	T|T|T	0.10594|0.10594|0.10594	0.0259|0.0259|0.0259	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B|B;B;B;B	.|0.06786|0.31026	.|0.001;0.001;0.001|0.304;0.023;0.107;0.107	.|B;B;B|B;B;B;B	.|0.06405|0.30029	.|0.001;0.002;0.002|0.11;0.056;0.104;0.104	T|T|T	0.19745|0.19745|0.19745	-1.0296|-1.0296|-1.0296	5|9|10	.|0.72032|0.66056	.|D|D	.|0.01|0.02	-25.0532|-25.0532|-25.0532	8.7005|8.7005|8.7005	0.34323|0.34323|0.34323	0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0	.|.|.	.|433;451;417|185;420;436;437	.|B4DDM7;B4DNK6;Q5QPI9|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.|.;.;.;ENTP6_HUMAN	S|H|I	296;275|347;417|420;436;437	.|ENSP00000401895:Q417H|ENSP00000347084:S420I;ENSP00000353131:S436I;ENSP00000365840:S437I	.|ENSP00000365828:Q347H|ENSP00000347084:S420I	A|Q|S	+|+|+	1|3|2	0|2|0	ENTPD6|ENTPD6|ENTPD6	25153907|25153907|25153907	0.975000|0.975000|0.975000	0.34042|0.34042|0.34042	0.073000|0.073000|0.073000	0.20177|0.20177|0.20177	0.005000|0.005000|0.005000	0.04900|0.04900|0.04900	1.662000|1.662000|1.662000	0.37418|0.37418|0.37418	1.423000|1.423000|1.423000	0.47198|0.47198|0.47198	-0.257000|-0.257000|-0.257000	0.10917|0.10917|0.10917	GCC|CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2	1	0	1	18	125	0	35	1	1	75	184	0	35	2		0	0	0	0	0	2	1	9.999853e-01	18	122	0	35	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.920000	1.000000	1.000000	0.995594	0.990000	1	9.900000e-01	1
ENTPD6	955	broad.mit.edu	37	20	25205943	25205943	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205943A>G	ENST00000376652.4	+	14	1509	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Silent_p.Q429Q|ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R|ENTPD6_ENST00000360031.2_Missense_Mutation_p.K448R			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)			27					CCCAGGAGCAAAGTGCTGAAG	0.607000																								0							SO:0001583	missense			ENST00000376652.4	1	1	hg19	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.36|13.36	2.213574|2.213574	0.39102|0.39102	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000354989;ENST00000360031;ENST00000376652	T|T;T;T	0.24538|0.11604	1.85|2.76;2.76;2.76	5.76|5.76	4.66|4.66	0.58398|0.58398	.|.	0.146358|0.146358	0.64402|0.64402	D|N	0.000014|0.000014	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.12961|0.12961	0.28|0.28	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.29188	.|0.024;0.02;0.236;0.236	.|B;B;B;B	.|0.34590	.|0.056;0.029;0.186;0.186	T|T	0.36986|0.36986	-0.9725|-0.9725	7|10	.|0.12430	.|T	.|0.62	-13.8871|-13.8871	9.6271|9.6271	0.39757|0.39757	0.9198:0.0:0.0802:0.0|0.9198:0.0:0.0802:0.0	.|.	.|197;432;448;449	.|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.;ENTP6_HUMAN	E|R	308;287|432;448;449	ENSP00000406975:K308E|ENSP00000347084:K432R;ENSP00000353131:K448R;ENSP00000365840:K449R	.|ENSP00000347084:K432R	K|K	+|+	1|2	0|0	ENTPD6|ENTPD6	25153943|25153943	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.741000|0.741000	0.42261|0.42261	3.715000|3.715000	0.54897|0.54897	0.988000|0.988000	0.38734|0.38734	0.460000|0.460000	0.39030|0.39030	AAG|AAA		TCGA-IB-7651-01A-11D-2154-08	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2	1	0	1	22	129	0	23	1	1	69	143	0	23	2		0	0	0	0	0	2	1	9.999989e-01	22	123	0	22	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999473	0.990000	1	9.900000e-01	1
PYGB	5834	broad.mit.edu	37	20	25255323	25255323	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25255323G>A	ENST00000216962.4	+	5	734	c.624G>A	c.(622-624)gaG>gaA	p.E208E		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain			31					GACGCGTGGAGCACACCCCCG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000216962.4	1	1	hg19	CCDS13171.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	0	0	0	27	929	0	148	1	1	96	1077	0	148	2		0	0	0	0	0	2	1	9.999999e-01	27	913	0	141	2								-3.011608	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.330000	0.220000	1.000000	0.330000	0.374709	0.330000	0	2.700000e-01	4.200000e-01
PYGB	5834	broad.mit.edu	37	20	25277122	25277122	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25277122C>T	ENST00000216962.4	+	20	2606	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain			31					AGCCCTCCGACCTGCAGATCC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000216962.4	1	1	hg19	CCDS13171.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	1	0	1	63	328	0	68	1	1	920	1071	0	68	2		0	0	0	0	0	2	1	1	62	325	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD12	26090	broad.mit.edu	37	20	25288673	25288673	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25288673G>A	ENST00000339157.5	-	9	1068	c.796C>T	c.(796-798)Cca>Tca	p.P266S	ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12			12					AGGGCATCTGGAGGCGTCTCT	0.463000																								0							SO:0001583	missense			ENST00000339157.5	1	1	hg19	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714331	0.89112	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.22945	1.98;1.93	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.74546	2.27	0.80722	D	1	P;D;D	0.89917	0.876;1.0;1.0	P;D;D	0.91635	0.646;0.999;0.988	T	0.50311	-0.8843	10	0.51188	T	0.08	-21.0005	19.2866	0.94077	0.0:0.0:1.0:0.0	.	228;266;266	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	S	266;266;228	ENSP00000365725:P266S;ENSP00000341408:P266S	ENSP00000341408:P266S	P	-	1	0	ABHD12	25236673	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.635000	0.91006	2.884000	0.98904	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	1	0	1	41	294	0	69	1	1	37	266	0	69	2		0	0	0	0	0	2	1	1	41	292	0	69	2								-2.841720	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999526	0.990000	1	9.900000e-01	1
NINL	22981	broad.mit.edu	37	20	25450686	25450686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25450686G>A	ENST00000278886.6	-	18	3367	c.3294C>T	c.(3292-3294)aaC>aaT	p.N1098N	NINL_ENST00000422516.1_Silent_p.N749N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like			57					TTCCCAGATCGTTTTTCAACA	0.507000											OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000278886.6	1	1	hg19	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173344	0.01646	.	.	ENSG00000101004	ENST00000336104	.	.	.	4.66	-2.02	0.07388	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3007	1.1511	0.01786	0.3569:0.2675:0.2455:0.1301	.	.	.	.	X	51	.	.	R	-	1	2	NINL	25398686	0.220000	0.23631	0.000000	0.03702	0.107000	0.19398	0.042000	0.13949	-0.628000	0.05582	-0.302000	0.09304	CGA		TCGA-IB-7651-01A-11D-2154-08	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	1	0	1	172	705	0	166	1	9.912380e-01	7	25	0	166	2		0	0	0	0	0	2	1	1	170	696	0	166	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NINL	22981	broad.mit.edu	37	20	25457376	25457376	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25457376G>A	ENST00000278886.6	-	17	2624	c.2551C>T	c.(2551-2553)Ccg>Tcg	p.P851S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like			57					CCACAGCCCGGACGCAGTGGT	0.706000																								0							SO:0001583	missense			ENST00000278886.6	1	1	hg19	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914602	0.17907	.	.	ENSG00000101004	ENST00000278886	T	0.30448	1.53	2.44	1.47	0.22746	.	0.385935	0.21657	N	0.071096	T	0.15349	0.0370	N	0.24115	0.695	0.09310	N	1	P	0.48834	0.916	B	0.42522	0.39	T	0.16158	-1.0412	10	0.06494	T	0.89	-1.3398	6.899	0.24273	0.0:0.3611:0.6389:0.0	.	851	Q9Y2I6	NINL_HUMAN	S	851	ENSP00000278886:P851S	ENSP00000278886:P851S	P	-	1	0	NINL	25405376	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.438000	0.21559	0.604000	0.29930	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	1	0	0	33	123	0	23	1	7.552067e-01	4	8	0	23	2		0	0	0	0	0	2	1	1	32	122	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NINL	22981	broad.mit.edu	37	20	25470535	25470535	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25470535G>A	ENST00000278886.6	-	12	1645	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	NINL_ENST00000422516.1_Silent_p.D524D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like			57					CAAACTCCAGGTCCTTCTGCA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000278886.6	1	1	hg19	CCDS33452.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	1	0	1	124	500	0	103	1	8.778185e-01	2	15	0	103	2		0	0	0	0	0	2	1	1	124	484	0	103	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NINL	22981	broad.mit.edu	37	20	25507115	25507115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25507115G>A	ENST00000278886.6	-	2	182	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	NINL_ENST00000422516.1_Missense_Mutation_p.L37F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like			57					TGAAGCTTAAGGCAGAGCTGG	0.572000																								0							SO:0001583	missense			ENST00000278886.6	1	1	hg19	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445863	0.25987	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.22134	1.97;1.97	5.11	2.05	0.26809	EF-hand-like domain (1);	1.410640	0.04275	N	0.342829	T	0.10766	0.0263	N	0.08118	0	0.22142	N	0.999338	B;B	0.16396	0.004;0.017	B;B	0.15052	0.004;0.012	T	0.29671	-1.0004	10	0.09843	T	0.71	0.1571	6.9357	0.24464	0.1545:0.0:0.7002:0.1453	.	37;37	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	F	37	ENSP00000278886:L37F;ENSP00000410431:L37F	ENSP00000278886:L37F	L	-	1	0	NINL	25455115	0.991000	0.36638	0.322000	0.25334	0.984000	0.73092	1.990000	0.40717	0.390000	0.25115	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	1	0	1	145	704	0	147	1	5.850605e-01	4	7	0	147	2		0	0	0	0	0	2	1	1	143	696	0	144	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMC2	117532	broad.mit.edu	37	20	2552886	2552886	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2552886C>T	ENST00000358864.1	+	5	631	c.616C>T	c.(616-618)Cta>Tta	p.L206L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2			35					AGGCAAGCAACTATATGCCTA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000358864.1	1	1	hg19	CCDS13029.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2	1	0	1	56	251	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	54	244	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF337	26152	broad.mit.edu	37	20	25656542	25656542	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656542A>G	ENST00000376436.1	-	4	1921	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337			32					GTCCTTGCACACAAAAGGCTT	0.468000																								0							SO:0001583	missense			ENST00000376436.1	1	1	hg19	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.562285	0.45694	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	L	0.31294	0.92	0.09310	N	1	P;P	0.36587	0.559;0.559	B;B	0.28305	0.088;0.088	T	0.26815	-1.0092	9	0.25751	T	0.34	.	6.387	0.21566	1.0:0.0:0.0:0.0	.	429;461	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	461;461;461;429	ENSP00000365619:V461A;ENSP00000252979:V461A;ENSP00000442181:V429A	ENSP00000252979:V461A	V	-	2	0	ZNF337	25604542	0.000000	0.05858	0.091000	0.20842	0.768000	0.43524	-0.747000	0.04823	0.742000	0.32697	0.248000	0.18094	GTG		TCGA-IB-7651-01A-11D-2154-08	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1	1	0	0	67	708	0	130	1	8.690361e-01	6	34	0	130	2		0	0	0	0	0	2	1	1	68	690	0	130	2								-17.096570	1	1	121412	2	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.800000	1.000000	1.000000	0.967389	0.990000	1	9.000000e-01	1
ZNF337	26152	broad.mit.edu	37	20	25656919	25656919	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656919G>A	ENST00000376436.1	-	4	1544	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F303F|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F335F|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337			32					TGTGCACAACGAAGTATGACT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000376436.1	0	1	hg19	CCDS13174.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1	0	0	0	9	523	0	109	0	1.558675e-01	1	36	0	109	2		0	0	0	0	0	2	1	9.937189e-01	8	513	0	109	2								-3.122247	1	1	121412	2	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.210000	0.100000	1.000000	0.200000	0.256126	0.210000	0	1.400000e-01	3.000000e-01
ZNF337	26152	broad.mit.edu	37	20	25657080	25657080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25657080G>A	ENST00000376436.1	-	4	1383	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337			32					GTTCTCTCATGCACAGTGAGG	0.502000																								0							SO:0001583	missense			ENST00000376436.1	1	1	hg19	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.244414	0.79912	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	D;D;D	0.86769	-2.17;-2.17;-2.17	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94892	0.8349	H	0.97983	4.12	0.30488	N	0.77168	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.941	D	0.89548	0.3797	9	0.87932	D	0	.	8.2365	0.31629	0.0:0.0:1.0:0.0	.	250;282	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	Y	282;282;282;250	ENSP00000365619:H282Y;ENSP00000252979:H282Y;ENSP00000442181:H250Y	ENSP00000252979:H282Y	H	-	1	0	ZNF337	25605080	0.998000	0.40836	0.046000	0.18839	0.954000	0.61252	3.871000	0.56077	0.935000	0.37341	0.306000	0.20318	CAT		TCGA-IB-7651-01A-11D-2154-08	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1	1	0	1	154	715	0	177	1	9.495017e-01	6	19	0	177	2		0	0	0	0	0	2	1	1	151	707	0	176	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMC2	117532	broad.mit.edu	37	20	2597782	2597782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2597782T>C	ENST00000358864.1	+	16	2020	c.2005T>C	c.(2005-2007)Tac>Cac	p.Y669H	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2			35					GACCTCCATGTACTTCCAGTG	0.567000																								0							SO:0001583	missense			ENST00000358864.1	1	1	hg19	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606491	0.87157	.	.	ENSG00000149488	ENST00000358864	T	0.79749	-1.3	5.35	5.35	0.76521	.	0.113958	0.64402	D	0.000008	D	0.89787	0.6816	M	0.82630	2.6	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.91210	0.4998	10	0.87932	D	0	-7.3629	13.5825	0.61911	0.0:0.0:0.0:1.0	.	669	Q8TDI7	TMC2_HUMAN	H	669	ENSP00000351732:Y669H	ENSP00000351732:Y669H	Y	+	1	0	TMC2	2545782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.145000	0.66743	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2	1	0	1	72	297	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	69	286	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C20orf96	140680	broad.mit.edu	37	20	259966	259966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:259966C>T	ENST00000360321.2	-	5	450	c.312G>A	c.(310-312)tcG>tcA	p.S104S	C20orf96_ENST00000382369.5_Silent_p.S69S|C20orf96_ENST00000400269.3_Silent_p.S46S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96			12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)		CGCTCCTGAGCGAGGTCTGCG	0.706000																								0							SO:0001819	synonymous_variant			ENST00000360321.2	1	1	hg19	CCDS12994.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	1	0	0	45	205	0	46	1	9.632712e-01	10	17	0	46	2		0	0	0	0	0	2	1	1	45	199	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMC2	117532	broad.mit.edu	37	20	2604978	2604978	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2604978C>A	ENST00000358864.1	+	17	2257	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2			35					CCCAACCTTCCTGGGCAAGAT	0.498000																								0							SO:0001583	missense			ENST00000358864.1	1	1	hg19	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859717	0.17178	.	.	ENSG00000149488	ENST00000358864	T	0.68025	-0.3	4.89	2.83	0.33086	.	0.337351	0.29987	N	0.010687	T	0.52125	0.1715	L	0.39147	1.195	0.26840	N	0.968397	B	0.19200	0.034	B	0.19946	0.027	T	0.35724	-0.9777	10	0.33940	T	0.23	-10.3691	7.3929	0.26919	0.1661:0.5411:0.2928:0.0	.	748	Q8TDI7	TMC2_HUMAN	M	748	ENSP00000351732:L748M	ENSP00000351732:L748M	L	+	1	2	TMC2	2552978	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	0.378000	0.20569	2.429000	0.82318	0.557000	0.71058	CTG		TCGA-IB-7651-01A-11D-2154-08	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2	1	0	1	103	373	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	103	365	0	89	2								-3.674190	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOP56	10528	broad.mit.edu	37	20	2636076	2636076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636076G>T	ENST00000329276.5	+	6	1191	c.675G>T	c.(673-675)gaG>gaT	p.E225D	SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein			25					AACTGAATGAGGACAAGCTGG	0.542000																								0							SO:0001583	missense			ENST00000329276.5	1	1	hg19	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	7.609	0.674327	0.14841	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.76578	-1.03;0.88	5.69	-3.39	0.04868	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	N	0.11651	0.15	0.54753	D	0.999985	B	0.17465	0.022	B	0.14578	0.011	T	0.25222	-1.0138	10	0.16420	T	0.52	-23.0047	14.4351	0.67274	0.2564:0.0:0.7436:0.0	.	225	O00567	NOP56_HUMAN	D	225;254	ENSP00000370589:E225D;ENSP00000388497:E254D	ENSP00000370589:E225D	E	+	3	2	NOP56	2584076	1.000000	0.71417	0.770000	0.31555	0.980000	0.70556	1.873000	0.39558	-0.531000	0.06340	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	1	0	1	79	323	0	86	1	1	84	265	0	86	2		0	0	0	0	0	2	1	1	77	312	0	85	2								-3.481822	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOP56	10528	broad.mit.edu	37	20	2636275	2636275	+	Silent	SNP	C	C	T	rs147425088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636275C>T	ENST00000329276.5	+	7	1308	c.792C>T	c.(790-792)atC>atT	p.I264I	SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	p.I264I(1)		25					TGATAAACATCGAGAGCTTCT	0.498000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000329276.5	1	1	hg19	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637467	0.14386	9.08E-4	0.0	ENSG00000101361	ENST00000415272	.	.	.	4.9	-0.592	0.11671	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	-15.8854	4.1248	0.10123	0.1696:0.339:0.0:0.4913	.	.	.	.	L	5	.	.	S	+	2	0	NOP56	2584275	0.809000	0.29036	0.998000	0.56505	0.992000	0.81027	-0.068000	0.11561	0.024000	0.15214	-0.258000	0.10820	TCG		TCGA-IB-7651-01A-11D-2154-08	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	1	0	1	113	479	0	113	1	1	57	199	0	113	2		0	0	0	0	0	2	1	1	112	470	0	113	2								-3.378596	1	1	121412	14	44	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOP56	10528	broad.mit.edu	37	20	2636638	2636638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636638C>T	ENST00000329276.5	+	8	1484	c.968C>T	c.(967-969)gCa>gTa	p.A323V	SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA|NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein			25					AAGTATCCAGCATCCACAGTG	0.557000																								0							SO:0001583	missense			ENST00000329276.5	1	1	hg19	CCDS13030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.569305|4.569305	0.86439|0.86439	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000329276;ENST00000381169|ENST00000415272	D|.	0.81579|.	-1.51|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);|.	0.097174|.	0.64402|.	D|.	0.000001|.	D|D	0.91637|0.91637	0.7357|0.7357	H|H	0.99877|0.99877	4.88|4.88	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79108|.	0.992;0.986|.	D|D	0.94971|0.94971	0.8117|0.8117	10|5	0.87932|.	D|.	0|.	-12.1857|-12.1857	14.7342|14.7342	0.69404|0.69404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70;323|.	E9PDI8;O00567|.	.;NOP56_HUMAN|.	V|Y	323;70|64	ENSP00000370589:A323V|.	ENSP00000370589:A323V|.	A|H	+|+	2|1	0|0	NOP56|NOP56	2584638|2584638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.640000|7.640000	0.83355|0.83355	2.532000|2.532000	0.85374|0.85374	0.561000|0.561000	0.74099|0.74099	GCA|CAT		TCGA-IB-7651-01A-11D-2154-08	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	1	0	1	37	197	0	60	1	1	100	212	0	60	2		0	0	0	0	0	2	1	1	36	194	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
C20orf96	140680	broad.mit.edu	37	20	264666	264666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:264666C>A	ENST00000360321.2	-	4	382	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*|C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96			12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)		CTATGTAGTTCTCTTGGATTC	0.537000																								0							SO:0001587	stop_gained			ENST00000360321.2	0	1	hg19	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217647	0.58560	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	.	.	.	3.54	3.54	0.40534	.	0.677352	0.12134	N	0.496481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-1.2996	10.8705	0.46881	0.0:1.0:0.0:0.0	.	.	.	.	X	47;82;24	.	ENSP00000353470:E82X	E	-	1	0	C20orf96	212666	0.001000	0.12720	0.010000	0.14722	0.098000	0.18820	0.856000	0.27818	2.282000	0.76494	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	1	0	0	13	326	0	61	0	5.064640e-01	1	41	0	61	2		0	0	0	0	0	2	1	9.994507e-01	12	316	0	61	2								-3.318794	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.470000	0.260000	1.000000	0.440000	0.503164	0.470000	0	3.500000e-01	6.300000e-01
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1			43					GTACCCAGCTCATGCTCCCCA	0.612000																								0							SO:0001583	missense			ENST00000380605.2	1	1	hg19	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958823	0.92726	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10860	2.83	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.05699	-1.0869	10	0.66056	D	0.02	-34.914	16.7686	0.85531	0.0:1.0:0.0:0.0	.	347;347	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	347;43	ENSP00000369979:E347K	ENSP00000369979:E347K	E	-	1	0	CPXM1	2725179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.935000	0.70145	2.825000	0.97269	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	1	0	1	109	498	0	151	0	9.986961e-01	0	47	0	151	2		0	0	0	0	0	2	1	1	106	480	0	150	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC3	85364	broad.mit.edu	37	20	279106	279106	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:279106C>A	ENST00000382352.3	+	1	1370	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3			8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)		GGTTTGGGATCTGGACCGGGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000382352.3	1	1	hg19	CCDS42844.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1	0	0	1	101	481	0	92	1	9.999997e-01	24	79	0	92	2		0	0	0	0	0	2	1	1	96	474	0	92	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEFB119	245932	broad.mit.edu	37	20	29965236	29965236	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29965236C>T	ENST00000376321.3	-	2	187	c.68G>A	c.(67-69)cGc>cAc	p.R23H	SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_Silent_p.T36T	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	p.T36T(1)		4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		AAGGATGTGGCGTTTGCCTGC	0.433000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000376321.3	1	1	hg19	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	4.463	0.085801	0.08583	.	.	ENSG00000180483	ENST00000376321	T	0.29917	1.55	4.23	-5.42	0.02640	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.26503	-1.0101	8	0.27082	T	0.32	.	7.9032	0.29746	0.0:0.1838:0.1351:0.681	.	23	Q8N690	DB119_HUMAN	H	23	ENSP00000365499:R23H	ENSP00000365499:R23H	R	-	2	0	DEFB119	29428897	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.238000	0.01199	-1.088000	0.03077	-0.136000	0.14681	CGC		TCGA-IB-7651-01A-11D-2154-08	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	1	0	1	84	377	1	107		0	0	0	1	107	2		0	0	0	0	0	2	1	1	82	364	1	105	15								-3.161695	1	1	121412	5	38	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REM1	28954	broad.mit.edu	37	20	30064336	30064336	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30064336C>A	ENST00000201979.2	+	2	381	c.88C>A	c.(88-90)Cct>Act	p.P30T	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1			23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		GGGCCACCAGCCTGGCCGCCT	0.657000																								0							SO:0001583	missense			ENST00000201979.2	1	1	hg19	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027703	0.54790	.	.	ENSG00000088320	ENST00000201979	T	0.65916	-0.18	4.55	3.59	0.41128	.	0.410133	0.19588	N	0.110692	T	0.43366	0.1244	N	0.19112	0.55	0.26069	N	0.981242	B	0.33964	0.434	B	0.28011	0.085	T	0.47045	-0.9147	10	0.66056	D	0.02	.	10.6959	0.45899	0.0:0.9038:0.0:0.0962	.	30	O75628	REM1_HUMAN	T	30	ENSP00000201979:P30T	ENSP00000201979:P30T	P	+	1	0	REM1	29527997	0.890000	0.30428	1.000000	0.80357	0.852000	0.48524	2.140000	0.42159	2.350000	0.79820	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	1	0	0	51	559	0	103	0	3.674972e-01	0	15	0	103	2		0	0	0	0	0	2	1	1	51	547	0	100	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.750000	1.000000	1.000000	0.948270	0.990000	1	8.600000e-01	1
COX4I2	84701	broad.mit.edu	37	20	30227779	30227779	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30227779C>A	ENST00000376075.3	+	3	201	c.126C>A	c.(124-126)gcC>gcA	p.A42A	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)			11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		ACTGCTATGCCCAGCGCTACT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000376075.3	1	1	hg19	CCDS13187.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	1	0	1	38	242	0	80	0	1.975932e-01	0	6	0	80	2		0	0	0	0	0	2	1	1	36	239	0	80	2								-3.144014	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999895	0.990000	1	9.900000e-01	1
COX4I2	84701	broad.mit.edu	37	20	30232619	30232619	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30232619A>C	ENST00000376075.3	+	5	503	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)			11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		AAAGCCCAGCAGCTGCAGCGC	0.572000																								0							SO:0001583	missense			ENST00000376075.3	1	1	hg19	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170242	0.57584	.	.	ENSG00000131055	ENST00000376075	T	0.58358	0.34	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.73125	0.3547	M	0.87971	2.92	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.77186	-0.2680	10	0.72032	D	0.01	-13.3586	9.8851	0.41257	1.0:0.0:0.0:0.0	.	143	Q96KJ9	COX42_HUMAN	P	143	ENSP00000365243:Q143P	ENSP00000365243:Q143P	Q	+	2	0	COX4I2	29696280	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.631000	0.83237	1.840000	0.53500	0.260000	0.18958	CAG		TCGA-IB-7651-01A-11D-2154-08	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	1	0	1	36	194	0	54	0	2.469919e-01	0	6	0	54	2		0	0	0	0	0	2	1	1	35	190	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
GNRH2	2797	broad.mit.edu	37	20	3025459	3025459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3025459C>T	ENST00000245983.2	+	3	340	c.289C>T	c.(289-291)Cga>Tga	p.R97*	GNRH2_ENST00000380347.2_Nonsense_Mutation_p.R90*|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*|GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2			2					TCACAGGAAGCGACACCTGGC	0.637000																								0							SO:0001587	stop_gained			ENST00000245983.2	0	1	hg19	CCDS13040.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733969	0.48939	.	.	ENSG00000125787	ENST00000245983;ENST00000359100;ENST00000359987;ENST00000380347;ENST00000380346	.	.	.	4.44	2.47	0.30058	.	0.836298	0.09727	N	0.763668	.	.	.	.	.	.	0.38892	D	0.957146	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2486	0.26135	0.0:0.7859:0.0:0.2141	.	.	.	.	X	97;90;89;90;89	.	ENSP00000245983:R97X	R	+	1	2	GNRH2	2973459	0.998000	0.40836	0.047000	0.18901	0.031000	0.12232	2.886000	0.48578	0.571000	0.29365	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077694.2	1	0	1	20	105	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.999969e-01	20	103	0	21	2								-20.000000	1	1	121360	2	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999697	0.990000	1	9.900000e-01	1
TPX2	22974	broad.mit.edu	37	20	30371596	30371596	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30371596G>A	ENST00000300403.6	+	12	1813	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TPX2_ENST00000340513.4_Missense_Mutation_p.E465K	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated			28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		ACCACCCACCGAGCCTATTGG	0.428000																								0							SO:0001583	missense			ENST00000300403.6	1	1	hg19	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385248	0.25031	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.29142	1.58	5.7	4.75	0.60458	.	0.298342	0.34067	N	0.004294	T	0.07369	0.0186	N	0.00392	-1.555	0.23972	N	0.996307	B;B	0.16802	0.019;0.002	B;B	0.09377	0.004;0.001	T	0.29701	-1.0003	10	0.02654	T	1	-9.9915	10.8839	0.46955	0.1439:0.7129:0.1432:0.0	.	465;429	Q96RR5;Q9ULW0	.;TPX2_HUMAN	K	429;465	ENSP00000341145:E465K	ENSP00000300403:E429K	E	+	1	0	TPX2	29835257	0.371000	0.25056	1.000000	0.80357	0.922000	0.55478	0.827000	0.27421	1.406000	0.46857	-0.153000	0.13522	GAG		TCGA-IB-7651-01A-11D-2154-08	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2	1	0	1	108	406	0	113	1	9.999985e-01	24	50	0	113	2		0	0	0	0	0	2	1	1	105	397	0	110	2								-3.586401	1	1	121412	1	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPX2	22974	broad.mit.edu	37	20	30388825	30388825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30388825G>A	ENST00000300403.6	+	18	2714	c.2186G>A	c.(2185-2187)aGt>aAt	p.S729N	TPX2_ENST00000340513.4_Missense_Mutation_p.S765N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated			28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		ATAAAGTCAAGTGACCAGCCT	0.502000																								0							SO:0001583	missense			ENST00000300403.6	1	1	hg19	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020733	0.93462	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.53423	0.62	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.986;0.994	T	0.73773	-0.3877	10	0.72032	D	0.01	-4.5283	18.891	0.92403	0.0:0.0:1.0:0.0	.	765;729	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	729;765	ENSP00000341145:S765N	ENSP00000300403:S729N	S	+	2	0	TPX2	29852486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.797000	0.85911	2.941000	0.99782	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2	0	0	1	133	657	0	182	1	9.999692e-01	33	41	0	182	2		0	0	0	0	0	2	1	1	132	637	0	180	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK2	85366	broad.mit.edu	37	20	30411332	30411332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30411332G>A	ENST00000375994.2	+	4	1098	c.825G>A	c.(823-825)agG>agA	p.R275R	MYLK2_ENST00000375985.4_Silent_p.R275R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2			33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		TGGAGCTGAGGACCGGGAATG	0.622000											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000375994.2	1	1	hg19	CCDS13191.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	0	0	0	35	870	0	157	0	4.706673e-03	0	3	0	157	2		0	0	0	0	0	2	1	1	35	860	0	154	2								-4.259932	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.460000	0.320000	1.000000	0.460000	0.491919	0.460000	0	3.800000e-01	5.600000e-01
MYLK2	85366	broad.mit.edu	37	20	30418685	30418685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418685G>T	ENST00000375994.2	+	8	1561	c.1288G>T	c.(1288-1290)Gca>Tca	p.A430S	MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2			33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		CTTTGGCCTGGCACGGAGGTA	0.622000																								0							SO:0001583	missense			ENST00000375994.2	1	1	hg19	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367341	0.82463	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.72167	-0.63;-0.63	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73210	0.3558	L	0.31065	0.9	0.58432	D	0.999995	P	0.46327	0.876	P	0.58970	0.849	T	0.75235	-0.3389	9	0.49607	T	0.09	.	15.0927	0.72207	0.0:0.0:1.0:0.0	.	430	Q9H1R3	MYLK2_HUMAN	S	430	ENSP00000365162:A430S;ENSP00000365152:A430S	ENSP00000365152:A430S	A	+	1	0	MYLK2	29882346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.490000	0.97952	2.063000	0.61619	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	1	0	1	159	753	0	169	0	2.832427e-01	0	6	0	169	2		0	0	0	0	0	2	1	1	155	741	0	168	2								-20.000000	1	0	121412	1	29	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK2	85366	broad.mit.edu	37	20	30419645	30419645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30419645G>A	ENST00000375994.2	+	10	1837	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2			33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		CAACCTCATCGTCAAGGACCA	0.527000																								0							SO:0001583	missense			ENST00000375994.2	1	1	hg19	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	9.596	1.127489	0.20959	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.65178	-0.14;-0.14	4.88	1.79	0.24919	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.51312	0.1667	L	0.56340	1.77	0.23174	N	0.998171	B	0.21606	0.058	B	0.21917	0.037	T	0.36625	-0.9740	9	0.16896	T	0.51	.	6.9167	0.24363	0.4535:0.0:0.5465:0.0	.	522	Q9H1R3	MYLK2_HUMAN	I	522	ENSP00000365162:V522I;ENSP00000365152:V522I	ENSP00000365152:V522I	V	+	1	0	MYLK2	29883306	0.881000	0.30235	1.000000	0.80357	0.990000	0.78478	1.655000	0.37345	0.653000	0.30826	0.643000	0.83706	GTC		TCGA-IB-7651-01A-11D-2154-08	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	1	0	1	70	310	0	100	0	2.347165e-01	0	5	0	100	2		0	0	0	0	0	2	1	1	66	303	0	100	2								-20.000000	1	1	121412	2	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP15	128853	broad.mit.edu	37	20	30436230	30436230	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30436230C>T	ENST00000278979.3	-	10	941	c.865G>A	c.(865-867)Gct>Act	p.A289T	FOXS1_ENST00000375978.3_5'Flank			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15			7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		GAAGAGGAAGCGGCTCGCTTA	0.622000																								0							SO:0001583	missense			ENST00000278979.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.441	0.449474	0.12223	.	.	ENSG00000149599	ENST00000278979	T	0.05447	3.44	3.47	-3.16	0.05217	.	1304.840000	0.00447	N	0.000094	T	0.05410	0.0143	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42207	-0.9465	9	0.87932	D	0	.	4.7351	0.12984	0.1503:0.5149:0.0:0.3348	.	289	Q9H1R2	DUS15_HUMAN	T	289	ENSP00000278979:A289T	ENSP00000278979:A289T	A	-	1	0	DUSP15	29899891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.937000	0.00330	-0.779000	0.04560	-1.327000	0.01280	GCT		TCGA-IB-7651-01A-11D-2154-08	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	0	0	1	31	193	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	30	185	0	42	2								-3.147018	1	1	116794	3	32	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999786	0.990000	1	9.900000e-01	1
DUSP15	128853	broad.mit.edu	37	20	30452778	30452778	+	Missense_Mutation	SNP	C	C	T	rs148170076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30452778C>T	ENST00000278979.3	-	4	233	c.157G>A	c.(157-159)Gct>Act	p.A53T	DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15			7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		GGGGTATCAGCGACCGGGATG	0.582000																								0							SO:0001583	missense			ENST00000278979.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.41	3.114975	0.56505	2.27E-4	0.0	ENSG00000149599	ENST00000278979;ENST00000339738;ENST00000375966	D;D;D	0.85556	-2.0;-2.0;-2.0	5.63	3.59	0.41128	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.314349	0.34362	N	0.004033	T	0.77308	0.4111	L	0.42487	1.325	0.80722	D	1	B;P	0.44044	0.152;0.825	B;B	0.41332	0.038;0.354	T	0.72283	-0.4339	10	0.25751	T	0.34	.	7.4858	0.27432	0.1531:0.5807:0.2663:0.0	.	56;53	Q9H1R2-3;Q9H1R2	.;DUS15_HUMAN	T	53;56;53	ENSP00000278979:A53T;ENSP00000341658:A56T;ENSP00000365133:A53T	ENSP00000278979:A53T	A	-	1	0	DUSP15	29916439	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.626000	0.37039	1.304000	0.44892	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	0	0	0	7	365	0	80	0	1.292603e-02	0	8	0	80	2		0	0	0	0	0	2	1	9.784607e-01	7	353	0	78	2								-2.807526	1	1	121412	1	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.240000	0.100000	1.000000	0.220000	0.284958	0.240000	0	1.600000e-01	3.600000e-01
TTLL9	164395	broad.mit.edu	37	20	30486338	30486338	+	Missense_Mutation	SNP	G	G	A	rs147502895	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30486338G>A	ENST00000375938.4	+	4	429	c.176G>A	c.(175-177)cGc>cAc	p.R59H	TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H|TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9H|TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H|RNU1-94P_ENST00000362627.1_RNA			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9			26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		GACGTCCTTCGCCACAGGCCA	0.522000																								0							SO:0001583	missense			ENST00000375938.4	0	1	hg19	CCDS42863.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.96	2.392147	0.42410	0.0	1.19E-4	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.10960	3.76;3.76;3.73;3.08;2.82;3.83	5.48	3.52	0.40303	.	0.271361	0.38548	N	0.001659	T	0.10465	0.0256	L	0.50919	1.6	0.35471	D	0.797353	B	0.11235	0.004	B	0.08055	0.003	T	0.06991	-1.0796	10	0.52906	T	0.07	.	7.8315	0.29344	0.1862:0.0:0.8138:0.0	.	59	Q3SXZ7	TTLL9_HUMAN	H	59;59;9;9;41;41;9	ENSP00000365105:R59H;ENSP00000442515:R59H;ENSP00000308980:R9H;ENSP00000365086:R9H;ENSP00000365100:R41H;ENSP00000365088:R9H	ENSP00000308980:R9H	R	+	2	0	TTLL9	29949999	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.154000	0.42291	1.312000	0.45043	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	9	274	0	73	0	1.349528e-03	0	2	0	73	2		0	0	0	0	0	2	1	9.938466e-01	10	267	0	73	2								-3.679485	1	1	120980	6	38	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.390000	0.190000	1.000000	0.370000	0.435770	0.390000	0	2.800000e-01	5.600000e-01
TM9SF4	9777	broad.mit.edu	37	20	30747903	30747903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30747903C>T	ENST00000398022.2	+	16	1913	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	TM9SF4_ENST00000217315.5_Silent_p.L543L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4			20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		GTACTTCCAGCTGTGTGCAGA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000398022.2	1	1	hg19	CCDS13196.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	1	0	0	63	244	0	52	1	1	55	181	0	52	2		0	0	0	0	0	2	1	1	61	237	0	52	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASXL1	171023	broad.mit.edu	37	20	31021562	31021562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31021562G>A	ENST00000375687.4	+	12	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1			722					GGAACCCAAGGATCAGAAGAG	0.522000			F, N, Mis		MDS, CMML										Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0							SO:0001583	missense			ENST00000375687.4	1	1	hg19	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871943	0.91587	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.41065	1.01;1.01	4.91	4.91	0.64330	.	0.216198	0.47455	D	0.000236	T	0.62245	0.2412	M	0.65975	2.015	0.54753	D	0.999989	D;D	0.76494	0.999;0.988	D;P	0.66084	0.941;0.871	T	0.60840	-0.7183	10	0.42905	T	0.14	-6.3966	18.6696	0.91506	0.0:0.0:1.0:0.0	.	516;521	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	521;521;521;460;516	ENSP00000364839:D521N;ENSP00000305119:D516N	ENSP00000305119:D516N	D	+	1	0	ASXL1	30485223	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.113000	0.94321	2.723000	0.93209	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	1	0	1	214	950	0	224	1	9.999616e-01	15	50	0	224	2		0	0	0	0	0	2	1	1	207	937	0	222	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASXL1	171023	broad.mit.edu	37	20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1			722					AATGTTACAGGCCAAGGGAAG	0.557000			F, N, Mis		MDS, CMML										Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0							SO:0001583	missense			ENST00000375687.4	1	1	hg19	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838653	0.32513	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.26;2.25	4.56	3.61	0.41365	.	0.384664	0.29660	N	0.011527	T	0.11495	0.0280	L	0.36672	1.1	0.33225	D	0.555162	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09840	-1.0656	10	0.32370	T	0.25	-11.0831	5.8012	0.18414	0.0966:0.0:0.6978:0.2056	.	1294;1299	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	D	1299;1299;1299;1220;1294	ENSP00000364839:G1299D;ENSP00000305119:G1294D	ENSP00000305119:G1294D	G	+	2	0	ASXL1	30488072	0.928000	0.31464	0.995000	0.50966	0.412000	0.31113	0.863000	0.27913	1.531000	0.49152	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	1	0	1	66	329	0	54	1	9.999982e-01	23	75	0	54	2		0	0	0	0	0	2	1	1	64	318	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNMT3B	1789	broad.mit.edu	37	20	31380565	31380565	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31380565A>C	ENST00000328111.2	+	9	1376	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta			39					AAACCCAACAACACGCAACCA	0.637000																								0							SO:0001583	missense			ENST00000328111.2	1	1	hg19	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855864	0.32791	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.97161	-4.07;-4.27;-4.21;-4.19;-4.2;-4.09;-4.27	5.34	0.169	0.15017	.	0.310727	0.40144	N	0.001169	D	0.90800	0.7111	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B;B	0.20052	0.0;0.001;0.041;0.001;0.002;0.001;0.002	B;B;B;B;B;B;B	0.17098	0.001;0.004;0.017;0.006;0.009;0.006;0.003	T	0.80783	-0.1228	10	0.39692	T	0.17	-22.1898	4.1248	0.10123	0.528:0.1768:0.2952:0.0	.	276;310;51;364;352;352;352	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	T	352;438;352;352;310;276;352;364	ENSP00000328547:N352T;ENSP00000313397:N352T;ENSP00000337764:N352T;ENSP00000403169:N310T;ENSP00000412305:N276T;ENSP00000345105:N352T;ENSP00000201963:N364T	ENSP00000201963:N364T	N	+	2	0	DNMT3B	30844226	0.562000	0.26586	1.000000	0.80357	0.974000	0.67602	0.794000	0.26958	0.114000	0.18032	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	1	0	1	57	249	0	60	0	1.641570e-01	0	4	0	60	2		0	0	0	0	0	2	1	1	55	241	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNMT3B	1789	broad.mit.edu	37	20	31387092	31387092	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31387092C>T	ENST00000328111.2	+	16	2038	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta			39					AGCCCGAAGGCGGCCCATTCG	0.582000																								0							SO:0001583	missense			ENST00000328111.2	1	1	hg19	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238001	0.79800	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.97	2.59	0.31030	.	0.057019	0.64402	D	0.000002	D	0.86615	0.5975	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.987;0.995;0.995;0.998;0.998;0.998;0.977	D	0.88022	0.2769	10	0.87932	D	0	-19.9396	14.2197	0.65818	0.5264:0.4736:0.0:0.0	.	477;511;272;565;553;553;573	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	W	573;553;553;511;477;553;565	ENSP00000328547:R573W;ENSP00000313397:R553W;ENSP00000337764:R553W;ENSP00000403169:R511W;ENSP00000412305:R477W;ENSP00000345105:R553W;ENSP00000201963:R565W	ENSP00000201963:R565W	R	+	1	2	DNMT3B	30850753	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	0.554000	0.23407	0.800000	0.34041	-0.169000	0.13324	CGG		TCGA-IB-7651-01A-11D-2154-08	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	1	0	1	15	83	0	25	0	1.240323e-01	1	3	0	25	2		0	0	0	0	0	2	1	9.999020e-01	15	82	0	25	2								-19.999990	1	1	121410	3	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.998462	0.990000	1	9.900000e-01	1
MAPRE1	22919	broad.mit.edu	37	20	31413783	31413783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31413783G>A	ENST00000375571.5	+	2	189	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1			8					AACCTAAGTCGACATGACATG	0.443000																								0							SO:0001583	missense			ENST00000375571.5	1	1	hg19	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996251	0.74818	.	.	ENSG00000101367	ENST00000375571	T	0.51574	0.7	5.76	4.82	0.62117	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	H	0.97051	3.93	0.80722	D	1	B	0.27791	0.189	B	0.14578	0.011	T	0.69379	-0.5161	10	0.72032	D	0.01	-1.0811	13.9326	0.64006	0.0725:0.0:0.9275:0.0	.	17	Q15691	MARE1_HUMAN	Q	17	ENSP00000364721:R17Q	ENSP00000364721:R17Q	R	+	2	0	MAPRE1	30877444	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.886000	0.87288	1.431000	0.47355	-0.140000	0.14226	CGA		TCGA-IB-7651-01A-11D-2154-08	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	1	0	1	93	386	0	103	1	1	77	303	0	103	2		0	0	0	0	0	2	1	1	89	381	0	100	2								-3.437819	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPRE1	22919	broad.mit.edu	37	20	31424452	31424452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31424452G>A	ENST00000375571.5	+	4	419	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1			8					AATTCCTGTGGACAAATTAGT	0.363000																								0							SO:0001583	missense			ENST00000375571.5	1	1	hg19	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138938	0.94560	.	.	ENSG00000101367	ENST00000375571	D	0.94931	-3.56	4.45	4.45	0.53987	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.94204	0.7452	10	0.35671	T	0.21	-11.7265	16.6237	0.84936	0.0:0.0:1.0:0.0	.	94	Q15691	MARE1_HUMAN	N	94	ENSP00000364721:D94N	ENSP00000364721:D94N	D	+	1	0	MAPRE1	30888113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.422000	0.97458	2.465000	0.83290	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	1	0	1	41	231	0	61	1	1	84	386	0	61	2		0	0	0	0	0	2	1	1	41	225	0	61	2								-3.328020	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
MAPRE1	22919	broad.mit.edu	37	20	31434492	31434492	+	Silent	SNP	G	G	A	rs139716054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31434492G>A	ENST00000375571.5	+	6	805	c.666G>A	c.(664-666)cgG>cgA	p.R222R	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1			8					GAAAGCTACGGAACATTGAAT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000375571.5	1	1	hg19	CCDS13208.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	1	0	1	167	708	0	176	1	1	133	467	0	176	2		0	0	0	0	0	2	1	1	164	690	1	175	17								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDRGK1	65992	broad.mit.edu	37	20	3175985	3175985	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3175985C>T	ENST00000354488.3	-	5	582	c.525G>A	c.(523-525)agG>agA	p.R175R	DDRGK1_ENST00000380201.2_Silent_p.R175R	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1			7					CGCGGGCCTTCCTCTCCTCCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000354488.3	1	1	hg19	CCDS13050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	1	0	1	63	296	0	66	1	1	122	359	0	66	2		0	0	0	0	0	2	1	1	63	288	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK5RAP1	51654	broad.mit.edu	37	20	31973465	31973465	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31973465A>G	ENST00000357886.4	-	7	1020	c.867T>C	c.(865-867)ctT>ctC	p.L289L	CDK5RAP1_ENST00000339269.5_Silent_p.L289L|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Silent_p.L199L|CDK5RAP1_ENST00000346416.2_Silent_p.L289L			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1			26					CCTGCTCAGAAAGCTTCTTCA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000357886.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	1	0	0	42	390	0	88	1	9.924758e-01	8	64	0	88	2		0	0	0	0	0	2	1	1	40	375	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.840000	1.000000	1.000000	0.987086	0.990000	1	9.900000e-01	1
CDK5RAP1	51654	broad.mit.edu	37	20	31979986	31979986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31979986C>T	ENST00000357886.4	-	5	659	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R79Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1			26					GGAGCGGGGCCGCCTTGTCTT	0.458000																								0							SO:0001583	missense			ENST00000357886.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.1	4.491772	0.84962	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	5.19	5.19	0.71726	Methylthiotransferase, N-terminal (2);	0.110167	0.64402	D	0.000013	T	0.81245	0.4782	M	0.84773	2.715	0.58432	D	0.999993	B;D;P;P;P;D;P	0.89917	0.256;1.0;0.955;0.955;0.955;0.976;0.857	B;D;B;B;B;B;B	0.83275	0.232;0.996;0.427;0.427;0.427;0.301;0.197	D	0.83688	0.0175	9	0.66056	D	0.02	-18.9715	16.238	0.82389	0.0:1.0:0.0:0.0	.	169;169;169;169;169;169;79	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	Q	169;169;169;79;59;169	.	ENSP00000341840:R169Q	R	-	2	0	CDK5RAP1	31443647	1.000000	0.71417	0.887000	0.34795	0.970000	0.65996	5.288000	0.65651	2.702000	0.92279	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	1	0	1	70	423	0	102	1	9.909614e-01	9	37	0	102	2		0	0	0	0	0	2	1	1	69	415	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNTA1	6640	broad.mit.edu	37	20	32005695	32005695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32005695C>A	ENST00000217381.2	-	3	802	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1			13					CAGTAGAGTTCTTGAAATACG	0.567000																								0							SO:0001583	missense			ENST00000217381.2	1	1	hg19	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196233	0.78902	.	.	ENSG00000101400	ENST00000217381	T	0.59772	0.24	5.71	5.71	0.89125	PDZ/DHR/GLGF (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	L	0.49778	1.585	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-9.7851	13.7535	0.62921	0.0:0.9258:0.0:0.0742	.	177;177	B4DX40;Q13424	.;SNTA1_HUMAN	N	177	ENSP00000217381:K177N	ENSP00000217381:K177N	K	-	3	2	SNTA1	31469356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.618000	0.46393	2.694000	0.91930	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	1	0	1	77	342	0	73	1	9.997343e-01	10	46	0	73	2		0	0	0	0	0	2	1	1	77	337	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC4A11	83959	broad.mit.edu	37	20	3209045	3209045	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3209045C>A	ENST00000380056.3	-	18	2513	c.2466G>T	c.(2464-2466)cgG>cgT	p.R822R	SLC4A11_ENST00000539553.2_Silent_p.R806R|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.R849R	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11			40					GGGGCACCCTCCGGATGTAGT	0.657000													NSCLC(190;922 2139 10266 10292 38692)											0							SO:0001819	synonymous_variant			ENST00000380056.3	1	1	hg19	CCDS13052.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1	1	0	1	110	551	0	118	1	9.999164e-01	11	58	0	118	2		0	0	0	0	0	2	1	1	107	540	0	116	2								-2.848313	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC4A11	83959	broad.mit.edu	37	20	3212030	3212030	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3212030C>T	ENST00000380056.3	-	7	989	c.942G>A	c.(940-942)gcG>gcA	p.A314A	SLC4A11_ENST00000539553.2_Silent_p.A298A|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.A341A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11			40					TCGTTCTCGGCGCCACTGGAC	0.657000													NSCLC(190;922 2139 10266 10292 38692)											0							SO:0001819	synonymous_variant			ENST00000380056.3	1	1	hg19	CCDS13052.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1	1	0	1	70	331	0	88	1	9.959867e-01	26	16	0	88	2		0	0	0	0	0	2	1	1	69	325	0	87	2								-3.271121	1	1	121412	4	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBFA2T2	9139	broad.mit.edu	37	20	32199034	32199034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32199034C>T	ENST00000346541.3	+	4	877	c.340C>T	c.(340-342)Cga>Tga	p.R114*	CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000492345.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2			20					TTGTGGTGCTCGACAACTCAG	0.517000													Esophageal Squamous(174;142 1955 14837 21276 28041)											0							SO:0001587	stop_gained			ENST00000346541.3	0	1	hg19	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	40	8.059881	0.98632	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	.	.	.	5.54	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3704	13.1758	0.59626	0.42:0.58:0.0:0.0	.	.	.	.	X	114;105;105;85;114;85;85;124	.	ENSP00000345810:R105X	R	+	1	2	CBFA2T2	31662695	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	0.614000	0.30107	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1	126	538	0	118	1	9.382615e-01	4	18	0	118	2		0	0	0	0	0	2	1	1	126	531	0	117	2								-3.210198	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBFA2T2	9139	broad.mit.edu	37	20	32212656	32212656	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212656A>G	ENST00000346541.3	+	7	1343	c.806A>G	c.(805-807)cAc>cGc	p.H269R	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.H260R|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2			20					GCTCCTCGGCACAGTCCTGCT	0.507000													Esophageal Squamous(174;142 1955 14837 21276 28041)											0							SO:0001583	missense			ENST00000346541.3	1	1	hg19	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758999	0.49468	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45668	0.89;0.9;0.89;0.9;1.49	5.83	5.83	0.93111	.	0.046008	0.85682	D	0.000000	T	0.61527	0.2354	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.77557	0.977;0.99	T	0.61724	-0.7004	10	0.51188	T	0.08	-6.2373	16.2005	0.82071	1.0:0.0:0.0:0.0	.	269;260	O43439;F8W6D7	MTG8R_HUMAN;.	R	43;269;260;269;240;279	ENSP00000364428:H269R;ENSP00000345810:H260R;ENSP00000262653:H269R;ENSP00000380902:H240R;ENSP00000352622:H279R	ENSP00000345810:H260R	H	+	2	0	CBFA2T2	31676317	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	8.962000	0.93254	2.227000	0.72691	0.528000	0.53228	CAC		TCGA-IB-7651-01A-11D-2154-08	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1	87	393	0	73	1	9.850067e-01	2	30	0	73	2		0	0	0	0	0	2	1	1	85	377	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBFA2T2	9139	broad.mit.edu	37	20	32212784	32212784	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212784C>A	ENST00000346541.3	+	7	1471	c.934C>A	c.(934-936)Cta>Ata	p.L312I	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L303I|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2			20					CAACAAGATGCTAGAGCATCG	0.473000													Esophageal Squamous(174;142 1955 14837 21276 28041)											0							SO:0001583	missense			ENST00000346541.3	1	1	hg19	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984649	0.35036	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45276	0.9;0.91;0.9;0.9;1.49	5.73	0.186	0.15105	.	0.492494	0.21336	N	0.076220	T	0.14570	0.0352	N	0.08118	0	0.49051	D	0.999741	P;P	0.41848	0.651;0.763	B;B	0.36845	0.212;0.234	T	0.12041	-1.0563	10	0.22109	T	0.4	-5.9758	1.2921	0.02062	0.3155:0.3121:0.2058:0.1666	.	312;303	O43439;F8W6D7	MTG8R_HUMAN;.	I	86;312;303;312;283;322	ENSP00000364428:L312I;ENSP00000345810:L303I;ENSP00000262653:L312I;ENSP00000380902:L283I;ENSP00000352622:L322I	ENSP00000345810:L303I	L	+	1	2	CBFA2T2	31676445	0.110000	0.22057	0.990000	0.47175	0.870000	0.49936	-0.432000	0.06956	-0.172000	0.10779	-0.182000	0.12963	CTA		TCGA-IB-7651-01A-11D-2154-08	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1	59	223	0	60	1	9.884249e-01	12	17	0	60	2		0	0	0	0	0	2	1	1	57	219	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBFA2T2	9139	broad.mit.edu	37	20	32232319	32232319	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32232319C>G	ENST00000346541.3	+	12	2219	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.P552R|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2			20					CCGCTGCTTCCTGTAGGCAGG	0.677000													Esophageal Squamous(174;142 1955 14837 21276 28041)											0							SO:0001583	missense			ENST00000346541.3	1	1	hg19	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095074	0.56075	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.46819	0.87;0.86;0.87;0.87;1.47	5.88	5.88	0.94601	.	0.105066	0.64402	D	0.000003	T	0.33059	0.0850	N	0.08118	0	0.58432	D	0.999995	P;P	0.48016	0.904;0.688	B;B	0.40534	0.243;0.332	T	0.23190	-1.0195	10	0.42905	T	0.14	0.0038	20.2422	0.98381	0.0:1.0:0.0:0.0	.	561;552	O43439;F8W6D7	MTG8R_HUMAN;.	R	335;561;552;561;532;571;109	ENSP00000364428:P561R;ENSP00000345810:P552R;ENSP00000262653:P561R;ENSP00000380902:P532R;ENSP00000352622:P571R	ENSP00000345810:P552R	P	+	2	0	CBFA2T2	31695980	0.981000	0.34729	1.000000	0.80357	0.698000	0.40448	5.354000	0.66040	2.782000	0.95742	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	1	0	1	112	435	0	74	1	8.674261e-01	6	10	0	74	2		0	0	0	0	0	2	1	1	109	424	0	71	2								-3.648144	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF341	84905	broad.mit.edu	37	20	32333101	32333101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32333101G>A	ENST00000375200.1	+	3	700	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ZNF341_ENST00000342427.2_Missense_Mutation_p.R112H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341			31					CCTGCCAATCGCCAGGTATTT	0.547000																								0							SO:0001583	missense			ENST00000375200.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.0	4.363913	0.82353	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.11169	3.08;2.8	5.58	5.58	0.84498	.	0.218649	0.42053	D	0.000766	T	0.18299	0.0439	N	0.17082	0.46	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.19095	-1.0316	10	0.17369	T	0.5	-29.7316	17.3441	0.87305	0.0:0.0:1.0:0.0	.	112;112	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	H	112	ENSP00000344308:R112H;ENSP00000364346:R112H	ENSP00000344308:R112H	R	+	2	0	ZNF341	31796762	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.325000	0.90007	2.638000	0.89438	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF341-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	42	175	0	33	1	7.071060e-01	4	8	0	33	2		0	0	0	0	0	2	1	1	41	170	0	31	2								-3.388821	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C20orf194	25943	broad.mit.edu	37	20	3245112	3245112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3245112G>A	ENST00000252032.9	-	31	2912	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194			39					TATCGAGATCGTAGCATCTCA	0.313000																								0							SO:0001587	stop_gained			ENST00000252032.9	0	1	hg19	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937150	0.98571	.	.	ENSG00000088854	ENST00000252032	.	.	.	5.14	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8059	0.46518	0.0:0.0:0.5873:0.4126	.	.	.	.	X	949	.	ENSP00000252032:R949X	R	-	1	2	C20orf194	3193112	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.333000	0.65917	2.548000	0.85928	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	1	0	1	41	175	0	52	0	9.446228e-01	1	22	0	52	2		0	0	0	0	0	2	1	1	39	172	0	52	2								-19.999970	1	1	120786	1	30	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHCY	191	broad.mit.edu	37	20	32879233	32879233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32879233C>T	ENST00000217426.2	-	5	627	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	AHCY_ENST00000538132.1_Missense_Mutation_p.V156I|AHCY_ENST00000468908.1_5'Flank	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase			19					ACCTTGGTGACGGAGTCATTG	0.582000																								0							SO:0001583	missense			ENST00000217426.2	1	1	hg19	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022397	0.75275	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.81821	-1.54;-1.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	L	0.42744	1.35	0.80722	D	1	B	0.23058	0.079	B	0.20577	0.03	T	0.74645	-0.3596	10	0.87932	D	0	.	19.3338	0.94306	0.0:1.0:0.0:0.0	.	184	P23526	SAHH_HUMAN	I	184;156	ENSP00000217426:V184I;ENSP00000442820:V156I	ENSP00000217426:V184I	V	-	1	0	AHCY	32342894	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.986000	0.70563	2.639000	0.89480	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	0	0	1	80	419	1	109	1	1	118	257	1	109	13		0	0	0	0	0	2	1	1	79	408	1	109	16								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHCY	191	broad.mit.edu	37	20	32883326	32883326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32883326G>T	ENST00000217426.2	-	2	171	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AHCY_ENST00000538132.1_Missense_Mutation_p.L4M|AHCY_ENST00000468908.1_5'UTR	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase			19					ATACGCATCAGGCCCGGCATC	0.652000																								0							SO:0001583	missense			ENST00000217426.2	1	1	hg19	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	g	16.51	3.142990	0.57044	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.83673	-1.75;-1.75	4.96	0.755	0.18415	.	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88632	0.3170	10	0.87932	D	0	.	9.1209	0.36786	0.3722:0.0:0.6278:0.0	.	4;32	B3KUN3;P23526	.;SAHH_HUMAN	M	32;4	ENSP00000217426:L32M;ENSP00000442820:L4M	ENSP00000217426:L32M	L	-	1	2	AHCY	32346987	1.000000	0.71417	0.991000	0.47740	0.440000	0.31957	3.479000	0.53165	-0.018000	0.14079	-0.355000	0.07637	CTG		TCGA-IB-7651-01A-11D-2154-08	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	1	0	1	39	165	0	42	1	1	159	299	0	42	2		0	0	0	0	0	2	1	1	39	165	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITCH	83737	broad.mit.edu	37	20	33045246	33045246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33045246G>A	ENST00000262650.6	+	14	1521	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	ITCH_ENST00000374864.4_Missense_Mutation_p.R421Q|ITCH-IT1_ENST00000418598.1_RNA|ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase			36					CACAACACACGAATTACACAA	0.398000																								0							SO:0001583	missense			ENST00000262650.6	1	1	hg19	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	36	5.899721	0.97081	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	D;D;D	0.82893	-1.66;-1.66;-1.66	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.984	D;D;P	0.72982	0.979;0.962;0.882	D	0.90880	0.4753	10	0.87932	D	0	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	373;462;421	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	Q	421;311;462	ENSP00000363998:R421Q;ENSP00000445608:R311Q;ENSP00000262650:R462Q	ENSP00000262650:R462Q	R	+	2	0	ITCH	32508907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.804000	0.99143	2.720000	0.93068	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2	1	0	1	28	108	0	38	1	1	5	123	0	38	2		0	0	0	0	0	2	1	1	27	104	0	37	2								-3.416401	1	1	121412	1	28	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ITCH	83737	broad.mit.edu	37	20	33057852	33057852	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33057852G>A	ENST00000262650.6	+	16	1683		c.e16-1		ITCH_ENST00000374864.4_Splice_Site|ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000483727.1_Splice_Site			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase			36					TTCTTCCTCAGAGACAATGGA	0.423000																								0							SO:0001630	splice_region_variant			ENST00000262650.6	1	1	hg19	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080202	0.94050	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITCH	32521513	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.471000	0.97696	2.885000	0.99019	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2	1	0	1	123	622	0	174	0	2.766612e-02	1	1	0	174	2		0	0	0	0	0	2	1	1	123	608	0	173	2								-3.079350	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1LC3A	84557	broad.mit.edu	37	20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33147545G>A	ENST00000360668.3	+	4	970	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha			5					TGCAGGCGCCGCCTGCAGCTG	0.627000																								0							SO:0001583	missense			ENST00000360668.3	1	1	hg19	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479684	0.84747	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.60797	0.16;0.16;0.16	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.72118	2.19	0.80722	D	1	B;D	0.76494	0.327;0.999	B;P	0.61477	0.187;0.889	T	0.76852	-0.2806	10	0.66056	D	0.02	-7.2633	18.3968	0.90502	0.0:0.0:1.0:0.0	.	70;74	Q9H492;Q9H492-2	MLP3A_HUMAN;.	H	74;70;70	ENSP00000363970:R74H;ENSP00000353886:R70H;ENSP00000380821:R70H	ENSP00000353886:R70H	R	+	2	0	MAP1LC3A	32611206	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.774000	0.98992	2.434000	0.82447	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	1	0	0	119	471	0	122	1	1	76	214	0	122	2		0	0	0	0	0	2	1	1	116	463	0	117	2								-3.575635	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TP53INP2	58476	broad.mit.edu	37	20	33296666	33296666	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33296666G>A	ENST00000374810.3	+	3	512	c.123G>A	c.(121-123)ccG>ccA	p.P41P	TP53INP2_ENST00000374809.2_Splice_Site_p.P41P|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2			2					TTGACCTGCCGGGTGAGGCCT	0.667000																								0							SO:0001630	splice_region_variant			ENST00000374810.3	1	0	hg19	CCDS13240.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	1	0	0	39	155	0	35	1	8.959630e-01	6	12	0	35	2		0	0	0	0	0	2	1	1	37	154	0	35	2								-2.981912	1	1	121410	1	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TP53INP2	58476	broad.mit.edu	37	20	33298084	33298084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33298084G>A	ENST00000374810.3	+	5	1025	c.636G>A	c.(634-636)caG>caA	p.Q212Q	TP53INP2_ENST00000374809.2_Silent_p.Q212Q|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2			2					TCATCTACCAGCCGTGCCAGC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000374810.3	1	1	hg19	CCDS13240.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	1	0	1	17	67	0	20	1	9.856351e-01	8	23	0	20	2		0	0	0	0	0	2	1	9.999828e-01	17	67	0	20	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999906	0.990000	1	9.900000e-01	1
NCOA6	23054	broad.mit.edu	37	20	33330454	33330454	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330454C>T	ENST00000374796.2	-	12	6176	c.3606G>A	c.(3604-3606)gcG>gcA	p.A1202A	NCOA6_ENST00000359003.2_Silent_p.A1202A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6			107					TCTGGGTTGGCGCAGCCACAT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000374796.2	1	1	hg19	CCDS13241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	1	0	1	66	669	0	120	1	9.995472e-01	12	102	0	120	2		0	0	0	0	0	2	1	1	63	643	0	120	2								-16.917460	1	1	121412	6	40	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.830000	1.000000	1.000000	0.979034	0.990000	1	9.400000e-01	1
NCOA6	23054	broad.mit.edu	37	20	33345486	33345486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33345486C>T	ENST00000374796.2	-	8	3635	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	NCOA6_ENST00000359003.2_Silent_p.Q355Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6			107					CCTGGAGTTGCTGTTGCATTG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000374796.2	1	1	hg19	CCDS13241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	1	0	1	71	375	0	61	1	9.998719e-01	21	50	0	61	2		0	0	0	0	0	2	1	1	68	361	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GGT7	2686	broad.mit.edu	37	20	33447341	33447341	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33447341G>A	ENST00000336431.5	-	7	963	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7			20					AGGTCGGGCCGATGCAGCAAC	0.662000																								0							SO:0001583	missense			ENST00000336431.5	0	1	hg19	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305865	0.60305	2.27E-4	0.0	ENSG00000131067	ENST00000336431	T	0.07567	3.18	5.84	0.916	0.19373	.	0.059319	0.64402	D	0.000003	T	0.25975	0.0633	M	0.71871	2.18	0.32068	N	0.594845	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.39121	-0.9629	10	0.66056	D	0.02	-16.4042	15.8612	0.79021	0.0:0.0:0.4708:0.5292	.	307;307	A4FU32;Q9UJ14	.;GGT7_HUMAN	W	307	ENSP00000338964:R307W	ENSP00000338964:R307W	R	-	1	2	GGT7	32911002	0.990000	0.36364	0.514000	0.27761	0.736000	0.42039	2.037000	0.41174	0.322000	0.23283	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	1	0	1	28	127	0	13	1	9.993040e-01	13	43	0	13	2		0	0	0	0	0	2	1	9.999999e-01	24	104	0	11	2								-20.000000	1	1	121364	3	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
GGT7	2686	broad.mit.edu	37	20	33450737	33450737	+	Missense_Mutation	SNP	G	G	T	rs149556789		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33450737G>T	ENST00000336431.5	-	3	481	c.437C>A	c.(436-438)gCt>gAt	p.A146D		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7			20					GCAGCGGGCAGCATCGGTCAC	0.617000																								0							SO:0001583	missense			ENST00000336431.5	0	1	hg19	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	g	13.54	2.268618	0.40095	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.21031	2.03;2.03	5.47	4.53	0.55603	.	0.123215	0.53938	D	0.000045	T	0.30696	0.0773	L	0.31207	0.915	0.51233	D	0.999915	D;D;D	0.71674	0.997;0.998;0.994	D;P;P	0.64410	0.925;0.889;0.844	T	0.02333	-1.1175	10	0.28530	T	0.3	-14.157	14.2309	0.65892	0.0713:0.0:0.9287:0.0	.	146;146;146	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	D	146;163	ENSP00000338964:A146D;ENSP00000394993:A163D	ENSP00000338964:A146D	A	-	2	0	GGT7	32914398	1.000000	0.71417	0.853000	0.33588	0.259000	0.26198	5.058000	0.64300	1.319000	0.45190	-0.141000	0.14075	GCT		TCGA-IB-7651-01A-11D-2154-08	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	0	0	0	8	147	0	23	1	8.553075e-01	6	61	0	23	2		0	0	0	0	0	2	1	9.891223e-01	7	145	0	22	2								-11.680860	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.640000	0.300000	1.000000	1.000000	0.665495	0.640000	0	4.400000e-01	9.100000e-01
ACSS2	55902	broad.mit.edu	37	20	33509141	33509141	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33509141G>A	ENST00000360596.2	+	11	1497	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2			21				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCATAGCCGGGCATCCTTG	0.592000																								0							SO:0001583	missense			ENST00000360596.2	1	1	hg19	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275405	0.95459	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.49432	0.78;2.86;2.86	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.975	T	0.74551	-0.3628	10	0.87932	D	0	-11.6693	19.6361	0.95733	0.0:0.0:1.0:0.0	.	442;429	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Q	379;429;427;137;442	ENSP00000337190:R379Q;ENSP00000353804:R429Q;ENSP00000253382:R442Q	ENSP00000253382:R442Q	R	+	2	0	ACSS2	32972802	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.425000	0.73370	2.878000	0.98634	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	1	0	1	66	370	0	103	1	1	51	100	0	103	2		0	0	0	0	0	2	1	1	66	363	0	103	2								-2.391581	0	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSS	2937	broad.mit.edu	37	20	33517274	33517274	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33517274G>A	ENST00000216951.2	-	12	1329	c.1231C>T	c.(1231-1233)Cta>Tta	p.L411L	GSS_ENST00000451957.2_Silent_p.L300L|GSS_ENST00000541098.1_Silent_p.L283L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase			17			BRCA - Breast invasive adenocarcinoma(18;0.035)	Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCAGGCCGTAGCAGGCAATTC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000216951.2	1	1	hg19	CCDS13245.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2	1	0	1	239	1078	0	255	1	1	73	144	0	255	2		0	0	0	0	0	2	1	1	236	1049	0	248	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSS	2937	broad.mit.edu	37	20	33523406	33523406	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33523406G>T	ENST00000216951.2	-	9	905	c.807C>A	c.(805-807)ggC>ggA	p.G269G	GSS_ENST00000451957.2_Silent_p.G158G|GSS_ENST00000541098.1_Silent_p.G141G	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase			17			BRCA - Breast invasive adenocarcinoma(18;0.035)	Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCATGTAGCCATCCCGGA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000216951.2	1	1	hg19	CCDS13245.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2	1	0	1	54	194	0	76	1	1	79	135	0	76	2		0	0	0	0	0	2	1	1	54	185	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH7B	57644	broad.mit.edu	37	20	33565843	33565843	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33565843G>A	ENST00000262873.7	+	3	253	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta			54			BRCA - Breast invasive adenocarcinoma(18;0.00691)		GAGTCTGCCCGCTACCTCCGC	0.607000																								0							SO:0001583	missense			ENST00000262873.7	1	1	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319059	0.41096	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	4.98	1.68	0.24146	.	0.716583	0.11545	N	0.553324	T	0.68155	0.2970	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.58624	-0.7604	10	0.56958	D	0.05	.	5.5154	0.16904	0.2844:0.4509:0.2647:0.0	.	12	A7E2Y1	MYH7B_HUMAN	H	54	ENSP00000262873:R54H	ENSP00000262873:R54H	R	+	2	0	MYH7B	33029504	0.000000	0.05858	0.998000	0.56505	0.917000	0.54804	0.014000	0.13333	0.642000	0.30620	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1	105	458	0	127	0	0	0	1	0	127	2		0	0	0	0	0	2	1	1	103	448	0	126	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH7B	57644	broad.mit.edu	37	20	33567510	33567510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33567510G>A	ENST00000262873.7	+	5	463	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta			54			BRCA - Breast invasive adenocarcinoma(18;0.00691)		AACCCGCCTCGCTTCGACTTA	0.632000																								0							SO:0001583	missense			ENST00000262873.7	1	1	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179720	0.78564	.	.	ENSG00000078814	ENST00000262873	T	0.71817	-0.6	4.31	4.31	0.51392	Myosin head, motor domain (1);	0.000000	0.38436	N	0.001682	T	0.53094	0.1775	L	0.42686	1.345	0.39505	D	0.968266	P	0.47762	0.9	B	0.34093	0.175	T	0.62048	-0.6936	10	0.87932	D	0	.	5.3674	0.16121	0.2536:0.0:0.7464:0.0	.	82	A7E2Y1	MYH7B_HUMAN	H	124	ENSP00000262873:R124H	ENSP00000262873:R124H	R	+	2	0	MYH7B	33031171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.387000	0.79785	2.383000	0.81215	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1	98	394	0	87	0	4.032258e-02	1	1	0	87	2		0	0	0	0	0	2	1	1	96	379	0	83	2								-20.000000	1	1	121324	18	45	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH7B	57644	broad.mit.edu	37	20	33575697	33575697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33575697G>A	ENST00000262873.7	+	16	1614	c.1522G>A	c.(1522-1524)Gct>Act	p.A508T	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta			54			BRCA - Breast invasive adenocarcinoma(18;0.00691)		TCTGGACATCGCTGGGTTTGA	0.607000																								0							SO:0001583	missense			ENST00000262873.7	1	1	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814580	0.70912	2.32E-4	0.0	ENSG00000078814	ENST00000262873	T	0.72505	-0.66	3.74	3.74	0.42951	Myosin head, motor domain (3);	0.000000	0.35708	N	0.003031	D	0.84447	0.5474	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85621	0.1264	10	0.42905	T	0.14	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	466	A7E2Y1	MYH7B_HUMAN	T	508	ENSP00000262873:A508T	ENSP00000262873:A508T	A	+	1	0	MYH7B	33039358	1.000000	0.71417	0.975000	0.42487	0.978000	0.69477	9.657000	0.98554	2.390000	0.81377	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1	67	368	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	64	361	0	105	2								-20.000000	1	1	121236	1	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH7B	57644	broad.mit.edu	37	20	33577604	33577604	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33577604G>T	ENST00000262873.7	+	18	1867	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta			54			BRCA - Breast invasive adenocarcinoma(18;0.00691)		TCAGACGCCAGCTTCCGGGCC	0.592000																								0							SO:0001583	missense			ENST00000262873.7	1	1	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381992	0.61845	.	.	ENSG00000078814	ENST00000262873	D	0.88431	-2.38	4.5	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.45361	D	0.000376	D	0.92935	0.7752	M	0.92026	3.265	0.37939	D	0.932263	P	0.45569	0.861	P	0.49887	0.625	D	0.95124	0.8249	10	0.87932	D	0	.	12.2402	0.54538	0.0:0.3167:0.6833:0.0	.	550	A7E2Y1	MYH7B_HUMAN	I	592	ENSP00000262873:S592I	ENSP00000262873:S592I	S	+	2	0	MYH7B	33041265	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.988000	0.56951	2.503000	0.84419	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	0	14	303	0	58	0	2.351097e-03	0	2	0	58	2		0	0	0	0	0	2	1	9.997319e-01	13	297	0	58	2								-15.187640	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.540000	0.300000	1.000000	0.510000	0.568808	0.540000	0	4.100000e-01	7.100000e-01
MYH7B	57644	broad.mit.edu	37	20	33578604	33578604	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578604G>A	ENST00000262873.7	+	21	2259	c.2167G>A	c.(2167-2169)Gtc>Atc	p.V723I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta			54			BRCA - Breast invasive adenocarcinoma(18;0.00691)		CCGCTGCATTGTCCCCAACGA	0.627000																								0							SO:0001583	missense			ENST00000262873.7	1	1	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279273	0.05642	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004041	T	0.45175	0.1329	N	0.00162	-1.95	0.37813	D	0.928124	B	0.09022	0.002	B	0.10450	0.005	T	0.60321	-0.7286	10	0.02654	T	1	.	4.53	0.12001	0.273:0.0:0.727:0.0	.	681	A7E2Y1	MYH7B_HUMAN	I	723	ENSP00000262873:V723I	ENSP00000262873:V723I	V	+	1	0	MYH7B	33042265	1.000000	0.71417	0.998000	0.56505	0.427000	0.31564	7.426000	0.80270	2.422000	0.82143	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	0	16	337	0	87	0	1.351831e-02	0	4	0	87	2		0	0	0	0	0	2	1	9.999214e-01	16	327	0	85	2								-16.904020	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.550000	0.320000	1.000000	0.530000	0.579273	0.550000	0	4.200000e-01	7.200000e-01
MYH7B	57644	broad.mit.edu	37	20	33578879	33578879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578879G>A	ENST00000262873.7	+	22	2356	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta			54			BRCA - Breast invasive adenocarcinoma(18;0.00691)		CGGATCTGCCGCCAAGGGTTC	0.647000																								0							SO:0001583	missense			ENST00000262873.7	1	1	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058244	0.76074	.	.	ENSG00000078814	ENST00000262873	T	0.74842	-0.88	3.7	3.7	0.42460	Myosin head, motor domain (2);	0.000000	0.38111	N	0.001811	D	0.88819	0.6540	H	0.95114	3.625	0.58432	D	0.999998	D	0.69078	0.997	P	0.60949	0.881	D	0.92757	0.6221	10	0.87932	D	0	.	16.7703	0.85535	0.0:0.0:1.0:0.0	.	713	A7E2Y1	MYH7B_HUMAN	H	755	ENSP00000262873:R755H	ENSP00000262873:R755H	R	+	2	0	MYH7B	33042540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.601000	0.98297	2.379000	0.81126	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	1	35	293	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1	37	291	0	64	2								-13.360170	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.900000	1.000000	1.000000	0.994342	0.990000	1	9.900000e-01	1
MYH7B	57644	broad.mit.edu	37	20	33582190	33582190	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33582190C>A	ENST00000262873.7	+	25	2904	c.2812C>A	c.(2812-2814)Ctg>Atg	p.L938M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta			54			BRCA - Breast invasive adenocarcinoma(18;0.00691)		TGACCTGGCCCTGCAGCTGCA	0.672000																								0							SO:0001583	missense			ENST00000262873.7	1	1	hg19	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693707	0.48202	.	.	ENSG00000078814	ENST00000262873	D	0.94000	-3.33	4.32	-1.0	0.10196	.	0.000000	0.30201	N	0.010175	D	0.95736	0.8613	M	0.85542	2.76	0.34256	D	0.67939	D	0.76494	0.999	D	0.85130	0.997	D	0.94844	0.8007	10	0.59425	D	0.04	.	9.0813	0.36554	0.0:0.626:0.0:0.374	.	896	A7E2Y1	MYH7B_HUMAN	M	938	ENSP00000262873:L938M	ENSP00000262873:L938M	L	+	1	2	MYH7B	33045851	0.552000	0.26505	0.976000	0.42696	0.779000	0.44077	1.227000	0.32576	-0.240000	0.09696	-0.768000	0.03414	CTG		TCGA-IB-7651-01A-11D-2154-08	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	1	0	0	18	200	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999842e-01	18	198	0	30	2								-19.999910	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.610000	1.000000	1.000000	0.916978	0.990000	1	7.800000e-01	1
TRPC4AP	26133	broad.mit.edu	37	20	33591414	33591414	+	Silent	SNP	G	G	A	rs145462116	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33591414G>A	ENST00000252015.2	-	18	2144	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	TRPC4AP_ENST00000539834.1_Silent_p.N287N|TRPC4AP_ENST00000432634.2_Silent_p.N646N|TRPC4AP_ENST00000451813.2_Silent_p.N677N			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein			32			BRCA - Breast invasive adenocarcinoma(18;0.00936)		GGCAGCTGACGTTCTCCTGCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000252015.2	1	1	hg19	CCDS13246.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	1	0	1	41	91	0	21	1	1	76	251	0	21	2		0	0	0	0	0	2	1	1	41	89	0	20	2								-20.000000	1	1	121398	3	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C20orf194	25943	broad.mit.edu	37	20	3363127	3363127	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3363127C>T	ENST00000252032.9	-	2	177	c.110G>A	c.(109-111)aGc>aAc	p.S37N	U3_ENST00000364476.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194			39					GGTCAGGATGCTCTGAACCTG	0.567000																								0							SO:0001583	missense			ENST00000252032.9	1	1	hg19	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982398	0.53827	.	.	ENSG00000088854	ENST00000252032	T	0.19532	2.14	5.79	3.88	0.44766	.	0.564362	0.20972	N	0.082372	T	0.21267	0.0512	L	0.56769	1.78	0.58432	D	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.03576	-1.1023	10	0.72032	D	0.01	.	8.5911	0.33688	0.0:0.7658:0.0:0.2342	.	37	Q5TEA3	CT194_HUMAN	N	37	ENSP00000252032:S37N	ENSP00000252032:S37N	S	-	2	0	C20orf194	3311127	0.977000	0.34250	0.924000	0.36721	0.994000	0.84299	1.387000	0.34430	0.796000	0.33947	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	1	0	1	26	188	0	60	1	2.645486e-01	3	5	0	60	2		0	0	0	0	0	2	1	9.999999e-01	25	181	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.970000	1.000000	1.000000	0.997612	0.990000	1	9.900000e-01	1
EDEM2	55741	broad.mit.edu	37	20	33719541	33719541	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33719541C>T	ENST00000374492.3	-	7	853	c.748G>A	c.(748-750)Gac>Aac	p.D250N	EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N|EDEM2_ENST00000540582.1_Missense_Mutation_p.D209N|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000374491.3_Missense_Mutation_p.D213N	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2			22			BRCA - Breast invasive adenocarcinoma(18;0.00936)		ATGCCTGCGTCCTGGGCCACC	0.557000													Esophageal Squamous(51;906 1021 24535 36410 39145)											0							SO:0001583	missense			ENST00000374492.3	1	1	hg19	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809335	0.96975	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000540582	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	L	0.49699	1.58	0.80722	D	1	P;D;D;D	0.89917	0.765;1.0;1.0;1.0	B;D;D;D	0.87578	0.201;0.998;0.995;0.997	T	0.82575	-0.0389	10	0.87932	D	0	-22.4335	20.2084	0.98285	0.0:1.0:0.0:0.0	.	209;29;213;250	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	N	213;250;29;209	ENSP00000363615:D213N;ENSP00000363616:D250N;ENSP00000443528:D29N;ENSP00000441548:D209N	ENSP00000363615:D213N	D	-	1	0	EDEM2	33183202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.774000	0.95407	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	0	0	0	28	837	0	135	1	9.810019e-01	9	180	0	135	2		0	0	0	0	0	2	1	1	27	821	0	133	2								-3.745190	1	1	121412	1	28	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.380000	0.260000	1.000000	0.390000	0.421845	0.380000	0	3.100000e-01	4.800000e-01
EDEM2	55741	broad.mit.edu	37	20	33725733	33725733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33725733G>A	ENST00000374492.3	-	5	545	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000540582.1_Missense_Mutation_p.S106F|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.3_Missense_Mutation_p.S110F	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2			22			BRCA - Breast invasive adenocarcinoma(18;0.00936)		GAGAGGCCCGGAACAGGGCCA	0.577000													Esophageal Squamous(51;906 1021 24535 36410 39145)											0							SO:0001583	missense			ENST00000374492.3	1	1	hg19	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197311	0.94960	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.72615	-0.67;-0.67;-0.67	5.5	5.5	0.81552	.	0.103011	0.64402	D	0.000001	T	0.79713	0.4493	L	0.47716	1.5	0.80722	D	1	P;P;P	0.52316	0.857;0.941;0.952	P;P;P	0.60682	0.613;0.735;0.878	T	0.80341	-0.1423	10	0.87932	D	0	-13.1246	19.5944	0.95530	0.0:0.0:1.0:0.0	.	106;110;147	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	F	110;147;106	ENSP00000363615:S110F;ENSP00000363616:S147F;ENSP00000441548:S106F	ENSP00000363615:S110F	S	-	2	0	EDEM2	33189394	1.000000	0.71417	0.981000	0.43875	0.913000	0.54294	9.633000	0.98432	2.868000	0.98415	0.555000	0.69702	TCC		TCGA-IB-7651-01A-11D-2154-08	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	1	0	1	55	757	0	161	1	9.995630e-01	16	139	0	161	2		0	0	0	0	0	2	1	1	53	740	0	157	2								-11.019690	1	1	121412	3	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.800000	0.610000	1.000000	1.000000	0.815870	0.800000	0	7.000000e-01	9.300000e-01
MMP24	10893	broad.mit.edu	37	20	33834760	33834760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33834760G>T	ENST00000246186.6	+	2	449	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)			14			BRCA - Breast invasive adenocarcinoma(18;0.00252)	Marimastat(DB00786)	CGGGATCCCGGTCACCGGTGT	0.507000																								0							SO:0001583	missense			ENST00000246186.6	1	1	hg19	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295962	0.95574	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.47177	0.85	5.5	5.5	0.81552	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.91818	3.245	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	T	0.80688	-0.1271	10	0.72032	D	0.01	.	18.5657	0.91115	0.0:0.0:1.0:0.0	.	122	Q9Y5R2	MMP24_HUMAN	F	122;70	ENSP00000246186:V122F	ENSP00000246186:V122F	V	+	1	0	MMP24	33298176	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.756000	0.85195	2.864000	0.98301	0.551000	0.68910	GTC		TCGA-IB-7651-01A-11D-2154-08	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	1	0	1	66	332	0	69	0	2.840399e-02	0	2	0	69	2		0	0	0	0	0	2	1	1	66	328	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83C	128876	broad.mit.edu	37	20	33874450	33874450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33874450C>A	ENST00000374408.3	-	4	2228	c.2132G>T	c.(2131-2133)aGt>aTt	p.S711I	FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000462894.1_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C			40			BRCA - Breast invasive adenocarcinoma(18;0.00252)		GACCAGGTCACTGTTACCACC	0.562000																								0							SO:0001583	missense			ENST00000374408.3	1	1	hg19	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038302	0.08148	.	.	ENSG00000125998	ENST00000374408	T	0.07567	3.18	4.43	0.193	0.15139	.	1.521730	0.03597	N	0.232847	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.28784	0.094	T	0.38950	-0.9637	10	0.87932	D	0	-10.6538	4.8603	0.13581	0.0:0.2742:0.1535:0.5723	.	711	Q9BQN1	FA83C_HUMAN	I	711	ENSP00000363529:S711I	ENSP00000363529:S711I	S	-	2	0	FAM83C	33337864	0.299000	0.24426	0.943000	0.38184	0.006000	0.05464	0.540000	0.23191	0.285000	0.22329	-0.672000	0.03802	AGT		TCGA-IB-7651-01A-11D-2154-08	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3	1	0	1	97	382	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1	97	378	0	118	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83C	128876	broad.mit.edu	37	20	33879692	33879692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879692G>A	ENST00000374408.3	-	1	512	c.416C>T	c.(415-417)aCa>aTa	p.T139I		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C			40			BRCA - Breast invasive adenocarcinoma(18;0.00252)		GCTGAAGCCTGTGGCCTGTGG	0.617000																								0							SO:0001583	missense			ENST00000374408.3	1	1	hg19	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054034	0.55218	.	.	ENSG00000125998	ENST00000374408	T	0.11277	2.79	4.83	4.83	0.62350	.	0.338132	0.30959	N	0.008532	T	0.24044	0.0582	L	0.38531	1.155	0.48830	D	0.999719	D	0.89917	1.0	D	0.79784	0.993	T	0.00472	-1.1719	10	0.41790	T	0.15	-27.7727	17.0208	0.86433	0.0:0.0:1.0:0.0	.	139	Q9BQN1	FA83C_HUMAN	I	139	ENSP00000363529:T139I	ENSP00000363529:T139I	T	-	2	0	FAM83C	33343106	1.000000	0.71417	0.997000	0.53966	0.715000	0.41141	3.363000	0.52321	2.682000	0.91365	0.561000	0.74099	ACA		TCGA-IB-7651-01A-11D-2154-08	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3	1	0	1	129	594	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	127	580	0	109	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83C	128876	broad.mit.edu	37	20	33879849	33879849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879849C>T	ENST00000374408.3	-	1	355	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C			40			BRCA - Breast invasive adenocarcinoma(18;0.00252)		TCAGGGCCCCCGCGCACATGG	0.677000																								0							SO:0001583	missense			ENST00000374408.3	1	1	hg19	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315752	0.23908	.	.	ENSG00000125998	ENST00000374408	T	0.10477	2.87	5.38	2.36	0.29203	.	0.421653	0.25250	N	0.032033	T	0.08935	0.0221	L	0.43152	1.355	0.09310	N	0.999992	B	0.23185	0.081	B	0.20384	0.029	T	0.35871	-0.9771	10	0.17369	T	0.5	-21.0526	10.2058	0.43112	0.0:0.7813:0.0:0.2187	.	87	Q9BQN1	FA83C_HUMAN	R	87	ENSP00000363529:G87R	ENSP00000363529:G87R	G	-	1	0	FAM83C	33343263	0.001000	0.12720	0.001000	0.08648	0.350000	0.29205	1.119000	0.31258	0.341000	0.23771	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3	0	0	0	13	324	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.995491e-01	13	323	0	68	2								-2.873744	1	1	121386	6	39	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.470000	0.260000	1.000000	0.450000	0.505815	0.470000	0	3.500000e-01	6.300000e-01
GDF5	8200	broad.mit.edu	37	20	34025405	34025405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34025405C>T	ENST00000374372.1	-	3	807	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GDF5_ENST00000374369.3_Missense_Mutation_p.G102S			P43026	GDF5_HUMAN	growth differentiation factor 5			26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)		TCAGGGCCGCCCGGTCTGGGG	0.647000																								0							SO:0001583	missense			ENST00000374372.1	1	1	hg19	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280357	0.23392	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.28454	1.61;1.61	4.39	4.39	0.52855	.	1.770760	0.03377	N	0.199874	T	0.30039	0.0752	N	0.24115	0.695	0.22858	N	0.998645	B;B	0.21520	0.057;0.057	B;B	0.12837	0.008;0.008	T	0.37619	-0.9698	10	0.49607	T	0.09	.	17.1029	0.86654	0.0:1.0:0.0:0.0	.	102;102	F1T0J1;P43026	.;GDF5_HUMAN	S	102	ENSP00000363489:G102S;ENSP00000363492:G102S	ENSP00000363489:G102S	G	-	1	0	GDF5	33488819	0.830000	0.29337	0.996000	0.52242	0.169000	0.22640	1.837000	0.39201	2.256000	0.74724	0.313000	0.20887	GGC		TCGA-IB-7651-01A-11D-2154-08	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2	1	0	1	71	270	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	69	262	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP250	11190	broad.mit.edu	37	20	34081331	34081331	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34081331G>A	ENST00000397527.1	+	23	3685	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	CEP250_ENST00000342580.4_Missense_Mutation_p.D933N|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa			45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)		GCAGCACAGAGATGACCTTGC	0.577000																								0							SO:0001583	missense			ENST00000397527.1	1	1	hg19	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139066	0.21205	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10668	2.91;2.85	3.76	2.77	0.32553	.	1.390910	0.05106	N	0.488063	T	0.12944	0.0314	L	0.57536	1.79	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.36720	-0.9736	10	0.17832	T	0.49	.	8.6375	0.33957	0.1154:0.0:0.8846:0.0	.	989	Q9BV73	CP250_HUMAN	N	989;933	ENSP00000380661:D989N;ENSP00000341541:D933N	ENSP00000341541:D933N	D	+	1	0	CEP250	33544745	0.388000	0.25197	0.058000	0.19502	0.391000	0.30476	2.396000	0.44468	1.942000	0.56320	0.174000	0.16983	GAT		TCGA-IB-7651-01A-11D-2154-08	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	1	0	1	130	447	0	107	1	9.988351e-01	7	30	0	107	2		0	0	0	0	0	2	1	1	126	438	0	107	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROMO1	140823	broad.mit.edu	37	20	34288758	34288758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34288758G>T	ENST00000374078.1	+	3	350	c.170G>T	c.(169-171)gGg>gTg	p.G57V	NFS1_ENST00000540053.1_5'Flank|NFS1_ENST00000306750.3_5'Flank|NFS1_ENST00000374092.4_5'Flank|ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|NFS1_ENST00000397425.1_5'Flank|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V|ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V|NFS1_ENST00000541387.1_5'Flank|ROMO1_ENST00000374072.1_3'UTR	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1			1					GGCGGCATTGGGAAAACCATG	0.502000																								0							SO:0001583	missense			ENST00000374078.1	1	1	hg19	CCDS13264.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885100	0.91814	.	.	ENSG00000125995	ENST00000374078;ENST00000374077;ENST00000397416;ENST00000336695	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.76761	-0.2840	9	0.87932	D	0	.	18.1669	0.89731	0.0:0.0:1.0:0.0	.	57	P60602	ROMO1_HUMAN	V	57	ENSP00000363191:G57V;ENSP00000363190:G57V;ENSP00000380561:G57V;ENSP00000338293:G57V	ENSP00000338293:G57V	G	+	2	0	ROMO1	33752172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.594000	0.98254	2.536000	0.85505	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000126404.1	1	0	1	54	317	0	99	1	1	272	672	0	99	2		0	0	0	0	0	2	1	1	54	306	0	98	2								-3.320471	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
RBM39	9584	broad.mit.edu	37	20	34319920	34319920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34319920C>T	ENST00000253363.6	-	4	262	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000361162.6_Missense_Mutation_p.R80Q			Q14498	RBM39_HUMAN	RNA binding motif protein 39			35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)				GCGGCTCCGTCGCCTCTCTTT	0.433000																								0							SO:0001583	missense			ENST00000253363.6	1	1	hg19	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.556659|4.556659	0.86231|0.86231	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000426951|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T	.|0.42900	.|3.45;3.45;1.0;3.48;3.48;0.96	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.099966	.|0.64402	.|D	.|0.000004	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.46327	.|0.804;0.804;0.876;0.804;0.804	.|B;B;B;B;B	.|0.39738	.|0.163;0.163;0.308;0.163;0.114	T|T	0.47560|0.47560	-0.9108|-0.9108	5|10	.|0.17832	.|T	.|0.49	.|.	20.2836|20.2836	0.98532|0.98532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;80;80;80;56	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	N|Q	68|80	.|ENSP00000253363:R80Q;ENSP00000354437:R80Q;ENSP00000436747:R80Q;ENSP00000363150:R80Q;ENSP00000406801:R80Q;ENSP00000393493:R80Q	.|ENSP00000253363:R80Q	D|R	-|-	1|2	0|0	RBM39|RBM39	33783334|33783334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	4.396000|4.396000	0.59684|0.59684	2.789000|2.789000	0.95967|0.95967	0.651000|0.651000	0.88453|0.88453	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	1	0	1	208	865	0	147	1	1	181	565	0	147	2		0	0	0	0	0	2	1	1	206	857	0	145	2								-20.000000	1	1	121412	1	32	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB41L1	2036	broad.mit.edu	37	20	34778662	34778662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34778662C>T	ENST00000338074.2	+	11	1404	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1			37	Breast(12;0.0239)				CCGGCCTGCACCCTTCTTTGA	0.612000																								0							SO:0001583	missense			ENST00000338074.2	1	1	hg19	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008744	0.93346	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.18	5.18	0.71444	FERM adjacent (FA) (1);	.	.	.	.	D	0.94833	0.8331	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;0.998;0.998;0.988	D	0.95367	0.8461	9	0.87932	D	0	.	17.6293	0.88102	0.0:1.0:0.0:0.0	.	415;415;384;318;318;353	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	S	353;318;415;318;353;384;415;415	ENSP00000202028:P353S;ENSP00000363061:P318S;ENSP00000399214:P353S;ENSP00000363057:P384S;ENSP00000337168:P415S;ENSP00000363052:P415S	ENSP00000202028:P353S	P	+	1	0	EPB41L1	34242076	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.776000	0.85560	2.556000	0.86216	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	1	0	1	24	195	0	41	1	9.999974e-01	25	152	0	41	2		0	0	0	0	0	2	1	9.999997e-01	24	191	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.860000	1.000000	1.000000	0.991429	0.990000	1	9.900000e-01	1
EPB41L1	2036	broad.mit.edu	37	20	34782221	34782221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34782221G>A	ENST00000338074.2	+	12	1549	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1			37	Breast(12;0.0239)				GAGTCTGGGGGGCAACGGTCA	0.602000																								0							SO:0001583	missense			ENST00000338074.2	1	1	hg19	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.968982|1.968982	0.34754|0.34754	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941|ENST00000451082	D;D;D;D;D;D|.	0.82984|.	-1.67;-1.61;-1.67;-1.64;-1.64;-1.64|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	1.320840|1.320840	0.04653|0.04653	N|N	0.407417|0.407417	T|T	0.58293|0.58293	0.2112|0.2112	N|N	0.14661|0.14661	0.345|0.345	0.44736|0.44736	D|D	0.997732|0.997732	B;B;B;B;P;B|.	0.37423|.	0.006;0.304;0.022;0.002;0.594;0.001|.	B;B;B;B;B;B|.	0.31614|.	0.004;0.036;0.022;0.005;0.133;0.003|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|7	0.02654|0.46703	T|T	1|0.11	.|.	18.3778|18.3778	0.90441|0.90441	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	463;463;432;366;366;401|.	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	.;E41L1_HUMAN;.;.;.;.|.	E|S	401;366;463;366;401;432;37;463;463|41	ENSP00000202028:G401E;ENSP00000363061:G366E;ENSP00000399214:G401E;ENSP00000363057:G432E;ENSP00000337168:G463E;ENSP00000363052:G463E|.	ENSP00000202028:G401E|ENSP00000406464:G41S	G|G	+|+	2|1	0|0	EPB41L1|EPB41L1	34245635|34245635	0.991000|0.991000	0.36638|0.36638	0.091000|0.091000	0.20842|0.20842	0.909000|0.909000	0.53808|0.53808	5.449000|5.449000	0.66619|0.66619	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GGG|GGC		TCGA-IB-7651-01A-11D-2154-08	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	1	0	1	39	153	0	29	1	1	72	96	0	29	2		0	0	0	0	0	2	1	1	38	152	0	28	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLGAP4	22839	broad.mit.edu	37	20	35068238	35068238	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35068238C>T	ENST00000373907.2	+	4	1522	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	DLGAP4_ENST00000373913.3_Silent_p.S441S|DLGAP4_ENST00000401952.2_Silent_p.S441S|DLGAP4_ENST00000339266.5_Silent_p.S441S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	p.S441S(1)		37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)			CCCCCGTCAGCGACAGCCTCA	0.632000											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000373907.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1	25	158	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	9.999999e-01	25	154	0	36	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999340	0.990000	1	9.900000e-01	1
DLGAP4	22839	broad.mit.edu	37	20	35128033	35128033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128033G>A	ENST00000373907.2	+	8	2252	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	DLGAP4_ENST00000339266.5_Missense_Mutation_p.A685T|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4			37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)			GCCCAGTCCCGCTACCAAATT	0.542000																								0							SO:0001583	missense			ENST00000373907.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.31	1.601401	0.28534	.	.	ENSG00000080845	ENST00000373907;ENST00000339266;ENST00000340491	T;T;T	0.17213	2.29;2.29;2.29	5.25	5.25	0.73442	.	0.304616	0.33753	N	0.004589	T	0.07548	0.0190	.	.	.	0.26244	N	0.978822	B	0.06786	0.001	B	0.08055	0.003	T	0.24012	-1.0172	9	0.02654	T	1	.	13.5615	0.61793	0.0:0.1559:0.8441:0.0	.	146	Q9Y2H0-3	.	T	685;685;146	ENSP00000363014:A685T;ENSP00000341633:A685T;ENSP00000345700:A146T	ENSP00000341633:A685T	A	+	1	0	DLGAP4	34561447	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.076000	0.41548	2.449000	0.82847	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1	19	93	0	24	1	1	33	160	0	24	2		0	0	0	0	0	2	1	9.999935e-01	19	91	0	24	2								-13.044050	1	1	121412	1	28	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999778	0.990000	1	9.900000e-01	1
DLGAP4	22839	broad.mit.edu	37	20	35128676	35128676	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128676G>T	ENST00000373907.2	+	9	2373	c.2174G>T	c.(2173-2175)aGc>aTc	p.S725I	DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000373913.3_Missense_Mutation_p.S722I|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4			37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)			AATGACTCAAGCTGTAAGTCA	0.612000																								0							SO:0001583	missense			ENST00000373907.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.96	1.794305	0.31777	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.24	5.24	0.73138	.	0.215365	0.48286	D	0.000190	T	0.50922	0.1644	M	0.61703	1.905	0.32240	N	0.572839	D;B;D;P	0.57571	0.98;0.027;0.968;0.818	P;B;P;B	0.52031	0.646;0.015;0.688;0.311	T	0.57562	-0.7790	10	0.21014	T	0.42	.	15.9964	0.80250	0.0:0.0:1.0:0.0	.	31;186;725;722	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	I	722;722;725;725;186	ENSP00000363023:S722I;ENSP00000384954:S722I;ENSP00000363014:S725I;ENSP00000341633:S725I;ENSP00000345700:S186I	ENSP00000341633:S725I	S	+	2	0	DLGAP4	34562090	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	2.939000	0.48995	2.448000	0.82819	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1	67	283	0	73	1	1	48	178	0	73	2		0	0	0	0	0	2	1	1	67	279	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLGAP4	22839	broad.mit.edu	37	20	35128951	35128951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128951C>T	ENST00000373907.2	+	9	2648	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R814W|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4			37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)			AGAAACAGAGCGGCTGGAAGG	0.607000																								0							SO:0001583	missense			ENST00000373907.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.04	3.288095	0.59976	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.86	2.47	0.30058	.	0.049608	0.85682	D	0.000000	T	0.70701	0.3254	M	0.92169	3.28	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.998;0.297	D;D;P;B	0.76575	0.961;0.988;0.745;0.092	T	0.79843	-0.1632	10	0.87932	D	0	.	14.8936	0.70627	0.4214:0.5786:0.0:0.0	.	123;278;817;814	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	W	814;814;817;817;278	ENSP00000363023:R814W;ENSP00000384954:R814W;ENSP00000363014:R817W;ENSP00000341633:R817W;ENSP00000345700:R278W	ENSP00000341633:R817W	R	+	1	2	DLGAP4	34562365	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.053000	0.41326	0.718000	0.32166	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	1	65	354	0	95	1	1	34	143	0	95	2		0	0	0	0	0	2	1	1	61	349	0	92	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLGAP4	22839	broad.mit.edu	37	20	35154346	35154346	+	Silent	SNP	C	C	T	rs147941086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35154346C>T	ENST00000373907.2	+	11	2896	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	DLGAP4_ENST00000339266.5_Silent_p.F899F|DLGAP4_ENST00000373913.3_Silent_p.F896F|DLGAP4_ENST00000340491.4_Silent_p.F360F|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.F896F|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4			37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)			GCATGAAGTTCGATGAACTCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000373907.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	1	0	0	151	480	0	145	1	1	44	124	0	145	2		0	0	0	0	0	2	1	1	150	474	0	145	2								-20.000000	1	1	121412	1	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYL9	10398	broad.mit.edu	37	20	35177499	35177499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35177499C>T	ENST00000279022.2	+	4	470	c.366C>T	c.(364-366)caC>caT	p.H122H	MYL9_ENST00000346786.2_Silent_p.H68H|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory			8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)			ATGAGGACCACCTCCGGGAGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000279022.2	1	1	hg19	CCDS13276.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	1	0	1	41	206	0	59	1	1	109	1410	0	59	2		0	0	0	0	0	2	1	1	39	204	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SAMHD1	25939	broad.mit.edu	37	20	35547879	35547879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35547879G>T	ENST00000262878.4	-	7	939	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1			20		Myeloproliferative disorder(115;0.00878)			AATTCCATTAGAATTAATAAG	0.383000																								0							SO:0001583	missense			ENST00000262878.4	1	1	hg19	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941492	0.73557	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.90004	-2.6;-2.47	5.82	4.87	0.63330	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.452484	0.25625	N	0.029390	D	0.91126	0.7206	L	0.53780	1.695	0.41946	D	0.990633	D	0.55800	0.973	P	0.56343	0.796	D	0.91799	0.5450	10	0.72032	D	0.01	-18.0376	14.9983	0.71451	0.0701:0.0:0.9299:0.0	.	247	Q9Y3Z3	SAMH1_HUMAN	Y	247;32	ENSP00000262878:S247Y;ENSP00000362798:S32Y	ENSP00000262878:S247Y	S	-	2	0	SAMHD1	34981293	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	3.740000	0.55082	2.759000	0.94783	0.557000	0.71058	TCT		TCGA-IB-7651-01A-11D-2154-08	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	1	0	1	40	164	0	44	0	1	0	184	0	44	2		0	0	0	0	0	2	1	1	39	163	0	44	2								-3.499377	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMHD1	25939	broad.mit.edu	37	20	35563450	35563450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563450C>T	ENST00000262878.4	-	4	690	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1			20		Myeloproliferative disorder(115;0.00878)			ATGCTCAAATCGATTGTGTGA	0.428000																								0							SO:0001583	missense			ENST00000262878.4	1	1	hg19	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808521	0.96967	.	.	ENSG00000101347	ENST00000262878	D	0.99936	-8.3	6.05	6.05	0.98169	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96570	0.9422	10	0.87932	D	0	-14.9894	20.6013	0.99457	0.0:1.0:0.0:0.0	.	164	Q9Y3Z3	SAMH1_HUMAN	Q	164	ENSP00000262878:R164Q	ENSP00000262878:R164Q	R	-	2	0	SAMHD1	34996864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	1	0	1	93	314	0	87	1	1	2	305	0	87	2		0	0	0	0	0	2	1	1	91	301	0	87	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMHD1	25939	broad.mit.edu	37	20	35563508	35563508	+	Nonsense_Mutation	SNP	G	G	A	rs121434517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563508G>A	ENST00000262878.4	-	4	632	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1			20		Myeloproliferative disorder(115;0.00878)			TTGATGTATCGAAGACGTTGA	0.433000																								0							SO:0001587	stop_gained			ENST00000262878.4	0	1	hg19	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	38	7.160328	0.98103	.	.	ENSG00000101347	ENST00000262878	.	.	.	6.05	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0364	9.3019	0.37851	0.0657:0.0:0.6789:0.2553	.	.	.	.	X	145	.	ENSP00000262878:R145X	R	-	1	2	SAMHD1	34996922	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	3.147000	0.50639	1.571000	0.49722	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	1	0	1	75	282	0	70	1	1	2	360	0	70	2		0	0	0	0	0	2	1	1	74	278	0	70	2								-3.745021	1	0	121412	2	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATRN	8455	broad.mit.edu	37	20	3564588	3564588	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3564588G>T	ENST00000262919.5	+	17	2876	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin			59					GTGCCTTGAGGACAGCATGTG	0.547000																								0							SO:0001583	missense			ENST00000262919.5	1	1	hg19	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455521	0.63401	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.17054	3.24;2.3	5.64	2.66	0.31614	.	0.047709	0.85682	D	0.000000	T	0.33585	0.0868	M	0.69463	2.115	0.53688	D	0.999976	P;D	0.89917	0.757;1.0	B;D	0.83275	0.155;0.996	T	0.02031	-1.1226	10	0.31617	T	0.26	-17.2408	8.0937	0.30816	0.1629:0.117:0.7201:0.0	.	936;936	O75882;O75882-2	ATRN_HUMAN;.	S	936;936;862	ENSP00000262919:R936S;ENSP00000416587:R936S	ENSP00000262919:R936S	R	+	3	2	ATRN	3512588	0.999000	0.42202	0.978000	0.43139	0.990000	0.78478	0.881000	0.28173	0.331000	0.23511	0.585000	0.79938	AGG		TCGA-IB-7651-01A-11D-2154-08	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	1	0	1	183	807	0	234	1	1	54	158	0	234	2		0	0	0	0	0	2	1	1	182	786	0	232	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBL1	5933	broad.mit.edu	37	20	35696435	35696435	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35696435T>G	ENST00000373664.3	-	3	511	c.445A>C	c.(445-447)Aat>Cat	p.N149H	RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1			42		Myeloproliferative disorder(115;0.00878)			TCATATGGATTTTGAAATATA	0.328000																								0							SO:0001583	missense			ENST00000373664.3	1	1	hg19	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.19|15.19	2.759401|2.759401	0.49468|0.49468	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000525052|ENST00000373664;ENST00000344359	.|T;T	.|0.73789	.|-0.78;-0.78	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Domain of unknown function DUF3452, retinoblastoma-associated (1);	.|0.049235	.|0.85682	.|D	.|0.000000	D|D	0.82999|0.82999	0.5159|0.5159	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999982|0.999982	.|D;B	.|0.89917	.|1.0;0.368	.|D;B	.|0.74348	.|0.983;0.275	T|T	0.82133|0.82133	-0.0608|-0.0608	5|10	.|0.37606	.|T	.|0.19	-9.9237|-9.9237	15.4744|15.4744	0.75465|0.75465	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|149;149	.|P28749-2;P28749	.|.;RBL1_HUMAN	N|H	8|149	.|ENSP00000362768:N149H;ENSP00000343646:N149H	.|ENSP00000343646:N149H	K|N	-|-	3|1	2|0	RBL1|RBL1	35129849|35129849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.767000|2.767000	0.47637|0.47637	2.242000|2.242000	0.73789|0.73789	0.482000|0.482000	0.46254|0.46254	AAA|AAT		TCGA-IB-7651-01A-11D-2154-08	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	1	0	1	68	350	0	71	1	6.067351e-01	2	10	0	71	2		0	0	0	0	0	2	1	1	66	344	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRC	6714	broad.mit.edu	37	20	36030016	36030016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36030016G>A	ENST00000373578.2	+	11	1400	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N|SRC_ENST00000445403.1_Missense_Mutation_p.D351N|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000358208.4_Missense_Mutation_p.D351N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase			30		Myeloproliferative disorder(115;0.00878)		Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	GAGTTTGCTGGACTTTCTCAA	0.632000																								0							SO:0001583	missense			ENST00000373578.2	1	1	hg19	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209156	0.79240	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	N	0.21142	0.635	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.06409	-1.0828	10	0.72032	D	0.01	.	15.7693	0.78152	0.0:0.0:1.0:0.0	.	351	P12931	SRC_HUMAN	N	351;351;357;351;351;357	ENSP00000408503:D351N;ENSP00000362680:D351N;ENSP00000353950:D357N;ENSP00000350941:D351N;ENSP00000362668:D351N;ENSP00000362659:D357N	ENSP00000350941:D351N	D	+	1	0	SRC	35463430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.487000	0.97945	2.565000	0.86533	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	1	0	1	57	342	0	90	1	1	121	188	0	90	2		0	0	0	0	0	2	1	1	57	340	0	88	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ADAM33	80332	broad.mit.edu	37	20	3660157	3660157	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3660157G>A	ENST00000356518.2	-	2	400	c.159C>T	c.(157-159)acC>acT	p.T53T	ADAM33_ENST00000379861.4_Silent_p.T53T|ADAM33_ENST00000350009.2_Silent_p.T53T	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33			29					CCAGGCTGACGGTGCGCCAGG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000356518.2	0	1	hg19	CCDS13058.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	1	0	0	20	72	0	15	0	9.016051e-01	0	17	0	15	2		0	0	0	0	0	2	1	9.999976e-01	20	70	0	15	2								-15.540810	1	1	121194	2	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
RPRD1B	58490	broad.mit.edu	37	20	36662454	36662454	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36662454G>A	ENST00000373433.4	+	1	507	c.105G>A	c.(103-105)aaG>aaA	p.K35K	TTI1_ENST00000373447.3_5'Flank|TTI1_ENST00000373448.2_5'Flank	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B			12					ACCACCGCAAGCACGCGGGAC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000373433.4	1	1	hg19	CCDS13301.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	1	0	1	99	502	0	117	1	9.969035e-01	12	34	0	117	2		0	0	0	0	0	2	1	1	99	493	0	116	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPRD1B	58490	broad.mit.edu	37	20	36694492	36694492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36694492C>T	ENST00000373433.4	+	6	1067	c.665C>T	c.(664-666)gCa>gTa	p.A222V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B			12					GACAAAGAGGCAGCTGAACGT	0.438000																								0							SO:0001583	missense			ENST00000373433.4	1	1	hg19	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102406	0.94245	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.65	5.65	0.86999	.	0.045472	0.85682	D	0.000000	T	0.53610	0.1807	M	0.65498	2.005	0.80722	D	1	P	0.47302	0.893	B	0.33454	0.164	T	0.59451	-0.7452	9	0.37606	T	0.19	-10.0649	18.891	0.92403	0.0:1.0:0.0:0.0	.	222	Q9NQG5	RPR1B_HUMAN	V	222;104	.	ENSP00000362532:A222V	A	+	2	0	RPRD1B	36127906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	0	0	0	16	522	0	90	1	6.031774e-01	2	64	0	90	2		0	0	0	0	0	2	1	9.999248e-01	16	513	0	90	2								-3.421434	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.360000	0.210000	1.000000	0.350000	0.398620	0.360000	0	2.700000e-01	4.800000e-01
SIGLEC1	6614	broad.mit.edu	37	20	3669866	3669866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3669866C>T	ENST00000344754.4	-	20	5005	c.5006G>A	c.(5005-5007)cGt>cAt	p.R1669H	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	p.1670_1673del(1)		70					CTTACAAACACGCCTCCTTCT	0.582000																								1	Deletion - In frame(1)						SO:0001583	missense			ENST00000344754.4	1	1	hg19	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202355	0.22121	.	.	ENSG00000088827	ENST00000344754	T	0.24151	1.87	5.38	-3.64	0.04515	.	2.282560	0.02156	N	0.058429	T	0.10035	0.0246	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10730	-1.0617	10	0.33141	T	0.24	.	0.5307	0.00628	0.2761:0.3107:0.195:0.2182	.	1669	Q9BZZ2	SN_HUMAN	H	1669	ENSP00000341141:R1669H	ENSP00000341141:R1669H	R	-	2	0	SIGLEC1	3617866	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.189000	0.03061	-0.904000	0.03876	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	1	123	542	0	149	0	9.999742e-01	0	68	0	149	2		0	0	0	0	0	2	1	1	121	528	0	147	2								-20.000000	1	1	121412	2	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC1	6614	broad.mit.edu	37	20	3673242	3673242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673242G>A	ENST00000344754.4	-	15	3955	c.3956C>T	c.(3955-3957)gCa>gTa	p.A1319V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					GTAGGCGCCTGCATGAGCCCG	0.657000																								0							SO:0001583	missense			ENST00000344754.4	1	1	hg19	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594026	0.66219	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15017	2.46;2.46	5.71	3.71	0.42584	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34652	N	0.003789	T	0.38321	0.1036	M	0.85542	2.76	0.09310	N	1	D;D	0.57257	0.971;0.979	P;P	0.60415	0.874;0.742	T	0.19712	-1.0297	10	0.56958	D	0.05	.	9.3211	0.37964	0.0779:0.0:0.7789:0.1432	.	1319;1319	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	1319	ENSP00000341141:A1319V;ENSP00000202578:A1319V	ENSP00000202578:A1319V	A	-	2	0	SIGLEC1	3621242	0.039000	0.19947	0.003000	0.11579	0.904000	0.53231	1.963000	0.40452	1.394000	0.46624	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	0	29	130	0	21	0	9.996578e-01	0	60	0	21	2		0	0	0	0	0	2	1	1	29	128	0	19	2								-20.000000	1	1	121358	2	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
SIGLEC1	6614	broad.mit.edu	37	20	3673398	3673398	+	Missense_Mutation	SNP	G	G	A	rs150431597		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673398G>A	ENST00000344754.4	-	15	3799	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					GGCAGCCTCCGGAGCCAGGAT	0.657000																								0							SO:0001583	missense			ENST00000344754.4	1	1	hg19	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199195	0.38806	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.14144	2.53;2.53	5.74	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36628	N	0.002482	T	0.44222	0.1283	M	0.92169	3.28	0.27153	N	0.961358	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.50767	-0.8789	10	0.29301	T	0.29	.	12.6884	0.56960	0.0:0.1658:0.8342:0.0	.	1267;1267	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	L	1267	ENSP00000341141:P1267L;ENSP00000202578:P1267L	ENSP00000202578:P1267L	P	-	2	0	SIGLEC1	3621398	0.998000	0.40836	0.438000	0.26821	0.042000	0.13812	5.600000	0.67599	1.405000	0.46838	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	0	1	76	239	0	47	0	9.999915e-01	0	57	0	47	2		0	0	0	0	0	2	1	1	75	236	0	46	2								-4.557803	1	1	121328	6	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC1	6614	broad.mit.edu	37	20	3673553	3673553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673553C>A	ENST00000344754.4	-	14	3733	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					GCCCAGAGGGCTGCGGGCAGA	0.677000																								0							SO:0001583	missense			ENST00000344754.4	1	1	hg19	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.160567|3.160567	0.57368|0.57368	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.75477	.|-0.94;-0.94	4.98|4.98	1.38|1.38	0.22167|0.22167	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.335011	.|0.21929	.|N	.|0.067045	T|T	0.80292|0.80292	0.4596|0.4596	M|M	0.67397|0.67397	2.05|2.05	0.31063|0.31063	N|N	0.713953|0.713953	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.992	T|T	0.75783|0.75783	-0.3196|-0.3196	5|10	.|0.52906	.|T	.|0.07	.|.	5.6007|5.6007	0.17351|0.17351	0.0:0.5714:0.0:0.4286|0.0:0.5714:0.0:0.4286	.|.	.|1245;1245	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	58|1245	.|ENSP00000341141:S1245I;ENSP00000202578:S1245I	.|ENSP00000202578:S1245I	Q|S	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621553|3621553	0.001000|0.001000	0.12720|0.12720	0.969000|0.969000	0.41365|0.41365	0.888000|0.888000	0.51559|0.51559	-0.278000|-0.278000	0.08490|0.08490	0.514000|0.514000	0.28300|0.28300	-0.140000|-0.140000	0.14226|0.14226	CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	0	20	320	0	46	0	5.114915e-01	0	28	0	46	2		0	0	0	0	0	2	1	9.999944e-01	19	312	0	45	2								-19.999260	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.710000	0.440000	1.000000	1.000000	0.726389	0.710000	0	5.600000e-01	9.000000e-01
SIGLEC1	6614	broad.mit.edu	37	20	3673670	3673670	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673670C>A	ENST00000344754.4	-	14	3616	c.3617G>T	c.(3616-3618)aGc>aTc	p.S1206I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					ACCGGCGTGGCTGAGGGCCAG	0.697000																								0							SO:0001583	missense			ENST00000344754.4	1	1	hg19	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.51|12.51	1.958818|1.958818	0.34565|0.34565	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.13089	.|2.62;2.62	4.74|4.74	3.8|3.8	0.43715|0.43715	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.47852	.|D	.|0.000220	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.60904|0.60904	1.88|1.88	0.33759|0.33759	D|D	0.621586|0.621586	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.66716	.|0.946;0.938	T|T	0.30208|0.30208	-0.9986|-0.9986	5|10	.|0.22706	.|T	.|0.39	.|.	8.684|8.684	0.34225|0.34225	0.0:0.8968:0.0:0.1032|0.0:0.8968:0.0:0.1032	.|.	.|1206;1206	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	19|1206	.|ENSP00000341141:S1206I;ENSP00000202578:S1206I	.|ENSP00000202578:S1206I	Q|S	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621670|3621670	0.012000|0.012000	0.17670|0.17670	0.995000|0.995000	0.50966|0.50966	0.619000|0.619000	0.37552|0.37552	0.058000|0.058000	0.14301|0.14301	1.239000|1.239000	0.43787|0.43787	0.655000|0.655000	0.94253|0.94253	CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	0	11	251	0	43	0	1.986951e-01	0	18	0	43	2		0	0	0	0	0	2	1	9.977801e-01	11	235	0	40	2								-13.018060	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.510000	0.270000	1.000000	0.480000	0.549716	0.510000	0	3.800000e-01	7.100000e-01
TGM2	7052	broad.mit.edu	37	20	36775176	36775176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36775176C>T	ENST00000361475.2	-	6	975	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TGM2_ENST00000536724.1_Missense_Mutation_p.G208S|TGM2_ENST00000536701.1_Missense_Mutation_p.G187S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2			32		Myeloproliferative disorder(115;0.00878)		L-Glutamine(DB00130)	CGCTGGCAGCCGTGGTTCTTC	0.672000																								0							SO:0001583	missense			ENST00000361475.2	1	1	hg19	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400596	0.62177	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.67	1.6	0.23607	.	0.494953	0.23620	N	0.046259	D	0.89410	0.6707	L	0.49455	1.56	0.23016	N	0.998427	P;D;P;P;P;D	0.67145	0.914;0.996;0.954;0.821;0.93;0.988	B;P;B;B;P;P	0.62298	0.409;0.9;0.325;0.409;0.544;0.847	T	0.80434	-0.1384	10	0.29301	T	0.29	-0.4431	8.4057	0.32614	0.0:0.6299:0.0:0.3701	.	208;187;268;268;208;268	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	S	268;187;208;268	ENSP00000355330:G268S;ENSP00000444701:G187S;ENSP00000437479:G208S;ENSP00000362502:G268S	ENSP00000355330:G268S	G	-	1	0	TGM2	36208590	0.000000	0.05858	0.116000	0.21606	0.788000	0.44548	-0.137000	0.10389	0.070000	0.16634	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	1	0	0	14	225	0	46	1	1	84	1020	0	46	2		0	0	0	0	0	2	1	9.997599e-01	14	222	0	46	2								-17.154200	1	1	121380	4	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.710000	0.400000	1.000000	1.000000	0.727668	0.710000	0	5.400000e-01	9.400000e-01
SIGLEC1	6614	broad.mit.edu	37	20	3678683	3678683	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3678683G>A	ENST00000344754.4	-	8	1883	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	SIGLEC1_ENST00000202578.4_Silent_p.S628S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					CGGGGGGGTCGCTGTCCACAC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000344754.4	1	1	hg19	CCDS13060.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	1	32	142	0	24	0	9.998754e-01	0	66	0	24	2		0	0	0	0	0	2	1	1	32	141	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SIGLEC1	6614	broad.mit.edu	37	20	3679957	3679957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3679957G>T	ENST00000344754.4	-	7	1677	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					GGGAGCAGGAGGCTGCTGCCG	0.672000																								0							SO:0001583	missense			ENST00000344754.4	1	1	hg19	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613571	0.66672	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15139	2.45;2.45	5.46	1.33	0.21861	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.209012	0.24291	N	0.039819	T	0.42877	0.1222	M	0.89785	3.06	0.27241	N	0.959146	D;D	0.62365	0.991;0.988	D;D	0.72625	0.978;0.962	T	0.29610	-1.0006	10	0.72032	D	0.01	.	7.8901	0.29674	0.3358:0.0:0.6642:0.0	.	560;560	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	I	560	ENSP00000341141:L560I;ENSP00000202578:L560I	ENSP00000202578:L560I	L	-	1	0	SIGLEC1	3627957	0.749000	0.28305	0.994000	0.49952	0.835000	0.47333	0.571000	0.23669	0.029000	0.15352	-0.136000	0.14681	CTC		TCGA-IB-7651-01A-11D-2154-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	1	17	56	0	13	0	9.996106e-01	0	49	0	13	2		0	0	0	0	0	2	1	9.999850e-01	17	56	0	13	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
SIGLEC1	6614	broad.mit.edu	37	20	3682126	3682126	+	Missense_Mutation	SNP	C	C	T	rs34924243	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3682126C>T	ENST00000344754.4	-	6	1390	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					ACCACTGAAGCGTGGGCTGTG	0.602000																								0							SO:0001583	missense			ENST00000344754.4	1	0	hg19	CCDS13060.1	72	0.03296703296703297	1	0.0020325203252032522	21	0.058011049723756904	4	0.006993006993006993	46	0.06068601583113457	C	21.0	4.075425	0.76415	0.015887	0.070349	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.79653	-1.29;-1.29	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000902	T	0.46814	0.1412	M	0.63843	1.955	0.41958	D	0.990691	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.74303	-0.3709	10	0.59425	D	0.04	.	17.2983	0.87175	0.0:1.0:0.0:0.0	rs34924243	464;464	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	464	ENSP00000341141:R464H;ENSP00000202578:R464H	ENSP00000202578:R464H	R	-	2	0	SIGLEC1	3630126	1.000000	0.71417	0.996000	0.52242	0.533000	0.34776	3.228000	0.51270	2.676000	0.91093	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	0	1	64	285	0	80	0	9.997836e-01	0	58	0	80	2		0	0	0	0	0	2	1	1	63	279	0	80	2								-1.545901	0	1	121412	6838	70	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1755	85449	broad.mit.edu	37	20	36870077	36870077	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36870077G>T	ENST00000279024.4	-	3	727	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755			54		Myeloproliferative disorder(115;0.00874)			CACTGTTGATGGCCTCCAGCC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000279024.4	1	1	hg19	CCDS33467.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	0	0	0	16	514	0	111	0	2.145208e-01	0	27	0	111	2		0	0	0	0	0	2	1	9.999211e-01	15	503	0	108	2								-3.445350	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.360000	0.210000	1.000000	0.350000	0.403861	0.360000	0	2.800000e-01	4.800000e-01
LBP	3929	broad.mit.edu	37	20	36982727	36982727	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36982727A>C	ENST00000217407.2	+	4	573	c.412A>C	c.(412-414)Att>Ctt	p.I138L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein			28		Myeloproliferative disorder(115;0.00878)			GGGCATCAGCATTTCGGTCAA	0.562000																								0							SO:0001583	missense			ENST00000217407.2	0	1	hg19	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.330310	0.60743	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07444	3.19	4.77	3.67	0.42095	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.077383	0.53938	D	0.000056	T	0.22282	0.0537	M	0.71581	2.175	0.36181	D	0.849435	D	0.62365	0.991	D	0.67382	0.951	T	0.09292	-1.0681	10	0.72032	D	0.01	-12.4181	7.303	0.26432	0.901:0.0:0.099:0.0	.	138	P18428	LBP_HUMAN	L	138	ENSP00000217407:I138L	ENSP00000217407:I138L	I	+	1	0	LBP	36416141	0.989000	0.36119	0.997000	0.53966	0.602000	0.36980	2.884000	0.48562	0.962000	0.38057	0.459000	0.35465	ATT		TCGA-IB-7651-01A-11D-2154-08	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	0	0	0	10	516	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	9.966194e-01	10	506	0	88	2								-8.714460	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.230000	0.110000	1.000000	0.220000	0.279633	0.230000	0	1.600000e-01	3.300000e-01
RALGAPB	57148	broad.mit.edu	37	20	37153514	37153514	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37153514C>A	ENST00000262879.6	+	11	1997	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L	RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)			65					CTCCTTTGTTCTGCTGTGACT	0.378000																								0							SO:0001583	missense			ENST00000262879.6	1	1	hg19	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970627	0.92919	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.62639	0.01;0.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	L	0.39514	1.22	0.80722	D	1	D;P;P;P	0.67145	0.996;0.954;0.954;0.954	D;D;D;D	0.73380	0.98;0.943;0.943;0.943	T	0.67956	-0.5536	10	0.29301	T	0.29	.	19.4189	0.94712	0.0:1.0:0.0:0.0	.	399;571;571;571	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	L	571;571;571;349;571;399	ENSP00000262879:F571L;ENSP00000380233:F571L	ENSP00000262879:F571L	F	+	3	2	RALGAPB	36586928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.934000	0.63491	2.587000	0.87381	0.561000	0.74099	TTC		TCGA-IB-7651-01A-11D-2154-08	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	1	0	1	167	782	0	155	1	9.997714e-01	15	43	0	155	2		0	0	0	0	0	2	1	1	166	764	0	155	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIB3	57761	broad.mit.edu	37	20	372084	372084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:372084C>T	ENST00000217233.3	+	3	998	c.445C>T	c.(445-447)Cga>Tga	p.R149*	TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3			21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)			CAGCCTGGTGCGAAGCCGCCA	0.657000													Melanoma(101;421 2374 19538)											0							SO:0001587	stop_gained			ENST00000217233.3	0	1	hg19	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	C	38	6.925983	0.97940	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	.	.	.	5.15	4.14	0.48551	.	0.000000	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-37.2272	12.6573	0.56793	0.1748:0.8252:0.0:0.0	.	.	.	.	X	149;149;176	.	ENSP00000217233:R149X	R	+	1	2	TRIB3	320084	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	1.962000	0.40442	2.667000	0.90743	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	1	0	1	50	193	0	29	1	9.999991e-01	26	59	0	29	2		0	0	0	0	0	2	1	1	50	190	0	28	2								-20.000000	1	1	121400	9	43	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA12B	116835	broad.mit.edu	37	20	3730865	3730865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3730865G>A	ENST00000254963.2	+	11	1437	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B			14					ACCGCTCTGCGCAGGAGCAGG	0.682000																								0							SO:0001583	missense			ENST00000254963.2	1	1	hg19	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012551	0.93346	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.47528	1.42;0.84;0.84	5.66	4.71	0.59529	.	0.168975	0.47093	N	0.000248	T	0.65386	0.2686	M	0.72479	2.2	0.53688	D	0.999979	D;D	0.89917	0.996;1.0	D;D	0.72982	0.921;0.979	T	0.67106	-0.5754	10	0.51188	T	0.08	-3.7254	12.2752	0.54730	0.0826:0.0:0.9174:0.0	.	430;431	B7ZLP2;Q96MM6	.;HS12B_HUMAN	H	431;265;345	ENSP00000254963:R431H;ENSP00000441506:R265H;ENSP00000382608:R345H	ENSP00000254963:R431H	R	+	2	0	HSPA12B	3678865	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.137000	0.50562	1.374000	0.46228	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	1	0	1	23	79	0	12	0	7.869116e-01	0	12	0	12	2		0	0	0	0	0	2	1	9.999998e-01	22	79	0	12	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
C20orf27	54976	broad.mit.edu	37	20	3735096	3735096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3735096G>A	ENST00000379772.3	-	5	1182	c.372C>T	c.(370-372)tgC>tgT	p.C124C	C20orf27_ENST00000217195.8_Silent_p.C149C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27			7					TGCCACCTTCGCAGGCTAGCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000379772.3	1	1	hg19	CCDS58763.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	1	0	1	98	501	0	110	1	1	40	96	0	110	2		0	0	0	0	0	2	1	1	96	494	0	107	2								-3.148223	1	1	121412	1	29	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTR5	79913	broad.mit.edu	37	20	37394145	37394145	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37394145C>T	ENST00000243903.4	+	6	1314	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)			12		Myeloproliferative disorder(115;0.00878)			GTGGAGAAGCCGGTCACCACT	0.473000																								0							SO:0001583	missense			ENST00000243903.4	1	1	hg19	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087033	0.76642	.	.	ENSG00000101442	ENST00000243903	D	0.96265	-3.96	5.13	5.13	0.70059	.	0.216243	0.47852	D	0.000202	D	0.97368	0.9139	M	0.71871	2.18	0.58432	D	0.999998	D	0.76494	0.999	P	0.59595	0.86	D	0.97583	1.0112	10	0.56958	D	0.05	-15.2555	17.1119	0.86678	0.0:1.0:0.0:0.0	.	426	Q9H9F9	ARP5_HUMAN	L	426	ENSP00000243903:P426L	ENSP00000243903:P426L	P	+	2	0	ACTR5	36827559	1.000000	0.71417	0.955000	0.39395	0.906000	0.53458	3.616000	0.54174	2.553000	0.86117	0.455000	0.32223	CCG		TCGA-IB-7651-01A-11D-2154-08	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	0	0	1	99	578	0	124	1	9.997370e-01	22	49	0	124	2		0	0	0	0	0	2	1	1	99	569	0	123	2								-20.000000	1	1	121412	3	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R16B	26051	broad.mit.edu	37	20	37524228	37524228	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37524228G>T	ENST00000299824.1	+	4	531	c.342G>T	c.(340-342)gaG>gaT	p.E114D	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B			49		Myeloproliferative disorder(115;0.00878)			ACAACTTTGAGGAAATTGTGA	0.607000																								0							SO:0001583	missense			ENST00000299824.1	1	1	hg19	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.02|17.02	3.281561|3.281561	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.64438|.	-0.1;-0.1|.	3.85|3.85	1.84|1.84	0.25277|0.25277	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13371|0.13371	0.34|0.34	0.45979|0.45979	D|D	0.998798|0.998798	P;P|.	0.37548|.	0.599;0.599|.	P;B|.	0.48334|.	0.574;0.444|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.14656|.	T|.	0.56|.	.|.	8.8866|8.8866	0.35406|0.35406	0.2651:0.0:0.7349:0.0|0.2651:0.0:0.7349:0.0	.|.	114;114|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	D|M	114|57	ENSP00000299824:E114D;ENSP00000362428:E114D|.	ENSP00000299824:E114D|.	E|R	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36957642|36957642	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	1.265000|1.265000	0.33027|0.33027	0.400000|0.400000	0.25396|0.25396	-0.161000|-0.161000	0.13427|0.13427	GAG|AGG		TCGA-IB-7651-01A-11D-2154-08	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	1	0	0	21	186	0	39	0	4.012748e-01	0	13	0	39	2		0	0	0	0	0	2	1	9.999977e-01	21	181	0	39	2								-3.318833	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.770000	1.000000	1.000000	0.979636	0.990000	1	9.700000e-01	1
PPP1R16B	26051	broad.mit.edu	37	20	37546928	37546928	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37546928C>T	ENST00000299824.1	+	11	1512	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PPP1R16B_ENST00000373331.2_Silent_p.N399N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B			49		Myeloproliferative disorder(115;0.00878)			CGCTGGCCAACGGGGATGTCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000299824.1	1	1	hg19	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553955	0.13374	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.3	-2.26	0.06867	.	.	.	.	.	T	0.63082	0.2481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61471	-0.7056	4	.	.	.	.	12.7867	0.57510	0.0:0.5801:0.0:0.4199	.	.	.	.	M	342	.	.	T	+	2	0	PPP1R16B	36980342	0.131000	0.22433	0.990000	0.47175	0.795000	0.44927	-0.901000	0.04093	-0.251000	0.09542	-0.940000	0.02684	ACG		TCGA-IB-7651-01A-11D-2154-08	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	1	0	0	166	829	0	213	0	4.590115e-01	0	9	0	213	2		0	0	0	0	0	2	1	1	164	820	0	210	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83D	81610	broad.mit.edu	37	20	37580769	37580769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37580769G>A	ENST00000217429.4	+	4	1495	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D			28		Myeloproliferative disorder(115;0.00878)			TTTCCTCGAGGAACTCAATCT	0.473000																								0							SO:0001583	missense			ENST00000217429.4	1	1	hg19	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451330	0.43531	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11821	2.74	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000027	T	0.28566	0.0707	M	0.72118	2.19	0.33666	D	0.610281	D	0.63880	0.993	P	0.58520	0.84	T	0.35968	-0.9767	10	0.42905	T	0.14	.	9.6484	0.39881	0.0762:0.1437:0.7801:0.0	.	455	Q9H4H8	FA83D_HUMAN	E	485;439	ENSP00000217429:G485E	ENSP00000217429:G485E	G	+	2	0	FAM83D	37014183	0.955000	0.32602	0.984000	0.44739	0.126000	0.20510	1.720000	0.38022	2.733000	0.93635	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1	1	0	1	86	424	0	103	1	9.983080e-01	12	37	0	103	2		0	0	0	0	0	2	1	1	85	410	1	102	17								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CENPB	1059	broad.mit.edu	37	20	3765499	3765499	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3765499A>G	ENST00000379751.4	-	1	1838	c.1632T>C	c.(1630-1632)ttT>ttC	p.F544F	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa			8					TGGCCTCCCCAAAGCTGGGTA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000379751.4	1	1	hg19	CCDS13064.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	0	0	0	7	186	0	44	1	9.991486e-01	32	358	0	44	2		0	0	0	0	0	2	1	9.801031e-01	7	183	0	44	2								-9.643304	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.460000	0.200000	1.000000	0.410000	0.497648	0.460000	0	3.100000e-01	6.700000e-01
CENPB	1059	broad.mit.edu	37	20	3766779	3766779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3766779C>T	ENST00000379751.4	-	1	558	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa			8					CCGTTGGAGGCGGTGAAGTCG	0.731000																								0							SO:0001583	missense			ENST00000379751.4	1	1	hg19	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	19.84	3.902606	0.72754	.	.	ENSG00000125817	ENST00000379751	T	0.27104	1.69	3.34	2.36	0.29203	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.249803	0.20833	U	0.084857	T	0.50701	0.1631	M	0.85945	2.785	0.33894	D	0.637715	D	0.89917	1.0	D	0.78314	0.991	T	0.63242	-0.6681	10	0.49607	T	0.09	-8.036	10.2481	0.43354	0.0:0.7966:0.2034:0.0	.	118	P07199	CENPB_HUMAN	T	118	ENSP00000369075:A118T	ENSP00000369075:A118T	A	-	1	0	CENPB	3714779	0.992000	0.36948	0.988000	0.46212	0.771000	0.43674	1.268000	0.33062	0.367000	0.24454	0.197000	0.17608	GCC		TCGA-IB-7651-01A-11D-2154-08	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	1	0	0	87	364	0	61	1	1	31	104	0	61	2		0	0	0	0	0	2	1	1	86	360	0	61	2								-3.343711	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC25B	994	broad.mit.edu	37	20	3785572	3785572	+	Silent	SNP	C	C	T	rs514521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3785572C>T	ENST00000245960.5	+	16	2404	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	CDC25B_ENST00000439880.2_Silent_p.S555S|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B			18					GGGAGCGGAGCCGGCGGGAGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000245960.5	1	1	hg19	CCDS13067.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	1	0	1	65	396	0	68	1	9.999996e-01	43	87	0	68	2		0	0	0	0	0	2	1	1	62	389	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MAVS	57506	broad.mit.edu	37	20	3841982	3841982	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3841982C>T	ENST00000428216.2	+	4	424	c.296C>T	c.(295-297)aCc>aTc	p.T99I	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein			14					CCTCTAGGGACCTCGGACCGT	0.607000																								0							SO:0001583	missense			ENST00000428216.2	1	1	hg19	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996648	0.19043	.	.	ENSG00000088888	ENST00000428216	T	0.12984	2.63	3.55	-7.11	0.01542	.	2.099370	0.02440	N	0.084452	T	0.09905	0.0243	L	0.44542	1.39	0.09310	N	0.999999	B	0.34241	0.444	B	0.32090	0.14	T	0.06826	-1.0805	10	0.48119	T	0.1	6.6292	2.2226	0.03976	0.515:0.1266:0.1899:0.1685	.	99	Q7Z434	MAVS_HUMAN	I	99	ENSP00000401980:T99I	ENSP00000401980:T99I	T	+	2	0	MAVS	3789982	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.457000	0.01001	-2.885000	0.00317	0.591000	0.81541	ACC		TCGA-IB-7651-01A-11D-2154-08	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	1	0	1	75	407	0	79	1	9.971777e-01	14	36	0	79	2		0	0	0	0	0	2	1	1	71	391	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAVS	57506	broad.mit.edu	37	20	3842924	3842924	+	Silent	SNP	G	G	A	rs150835407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3842924G>A	ENST00000428216.2	+	5	617	c.489G>A	c.(487-489)acG>acA	p.T163T	MAVS_ENST00000358134.6_Missense_Mutation_p.A106T|MAVS_ENST00000416600.2_Silent_p.T22T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein			14					CCCTGCAGACGCTCAGCCCCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000428216.2	1	1	hg19	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883678	0.17467	.	.	ENSG00000088888	ENST00000358134	T	0.11495	2.77	3.56	-3.22	0.05125	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	8	0.17369	T	0.5	-0.588	4.4783	0.11755	0.3447:0.3412:0.3141:0.0	.	106	B2BD34	.	T	106	ENSP00000350852:A106T	ENSP00000350852:A106T	A	+	1	0	MAVS	3790924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.082000	0.14847	-0.708000	0.05015	-1.004000	0.02495	GCT		TCGA-IB-7651-01A-11D-2154-08	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	0	0	1	53	218	0	59	1	9.999891e-01	17	56	0	59	2		0	0	0	0	0	2	1	1	51	212	0	59	2								-3.579753	1	1	121412	1	32	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PANK2	80025	broad.mit.edu	37	20	3869814	3869814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3869814C>T	ENST00000316562.4	+	1	73	c.67C>T	c.(67-69)Cta>Tta	p.L23L	PANK2_ENST00000497424.1_Intron|RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_5'Flank	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2			15					CTCTTCTGGGCTACACCGCCT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000316562.4	0	1	hg19	CCDS13071.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	1	0	0	10	52	0	10	0	8.269231e-02	0	3	0	10	2		0	0	0	0	0	2	1	9.976812e-01	10	52	0	10	2								-18.605150	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.940000	1.000000	1.000000	0.995729	0.990000	1	9.900000e-01	1
RBCK1	10616	broad.mit.edu	37	20	390527	390527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:390527G>T	ENST00000356286.5	+	2	730	c.25G>T	c.(25-27)Gag>Tag	p.E9*	RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000400247.3_Intron	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1			5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)			GCTTTCAGCAGAGGAAATGGC	0.577000																								0							SO:0001587	stop_gained			ENST00000356286.5	0	1	hg19	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030241|3.030241	0.54790|0.54790	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000441733|ENST00000411647;ENST00000356286;ENST00000475269;ENST00000400244;ENST00000400243	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.094910	.|0.38897	.|U	.|0.001527	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.66056	.|D	.|0.02	.|-11.2532	15.14|15.14	0.72604|0.72604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|9	.|.	.|ENSP00000348632:E9X	.|E	+|+	.|1	.|0	RBCK1|RBCK1	338527|338527	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.771000|0.771000	0.43674|0.43674	6.944000|6.944000	0.75940|0.75940	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	.|GAG		TCGA-IB-7651-01A-11D-2154-08	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	1	0	1	204	982	0	234	1	1	90	279	0	234	2		0	0	0	0	0	2	1	1	202	967	0	228	2								-3.225229	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF24	11237	broad.mit.edu	37	20	3914846	3914846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3914846C>T	ENST00000336095.6	-	6	562	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000545616.2_Missense_Mutation_p.C125Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24			2					CTTAATAAGGCACCTGCAGAA	0.542000																								0							SO:0001583	missense			ENST00000336095.6	1	1	hg19	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500288	0.85176	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.79108	0.992;0.99	D	0.96787	0.9579	10	0.87932	D	0	-10.1893	17.5288	0.87808	0.0:1.0:0.0:0.0	.	125;104	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	Y	104;104;125;125	ENSP00000336753:C104Y;ENSP00000351166:C104Y;ENSP00000444711:C125Y;ENSP00000388550:C125Y	ENSP00000336753:C104Y	C	-	2	0	RNF24	3862846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.057000	0.76669	2.735000	0.93741	0.591000	0.81541	TGC		TCGA-IB-7651-01A-11D-2154-08	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2	1	0	0	58	266	0	69	1	9.943650e-01	7	32	0	69	2		0	0	0	0	0	2	1	1	58	258	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCG1	5335	broad.mit.edu	37	20	39802571	39802571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39802571G>A	ENST00000373271.1	+	30	3970	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T|PLCG1_ENST00000373272.2_Missense_Mutation_p.A1189T	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1			46		Myeloproliferative disorder(115;0.00878)			AGGATACAGAGCAGTGCCTTT	0.587000																								0							SO:0001583	missense			ENST00000373271.1	1	1	hg19	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372330	0.42003	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.13657	2.57;2.57;2.57	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.180410	0.49305	D	0.000154	T	0.14141	0.0342	L	0.40543	1.245	0.43088	D	0.994754	B;B;B	0.15930	0.013;0.015;0.007	B;B;B	0.16289	0.015;0.011;0.007	T	0.02333	-1.1175	10	0.54805	T	0.06	.	14.7289	0.69365	0.0:0.0:0.8545:0.1455	.	1189;1189;1189	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	T	1189	ENSP00000244007:A1189T;ENSP00000362368:A1189T;ENSP00000362369:A1189T	ENSP00000244007:A1189T	A	+	1	0	PLCG1	39235985	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	1.859000	0.39418	2.593000	0.87608	0.455000	0.32223	GCA		TCGA-IB-7651-01A-11D-2154-08	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	1	0	1	101	425	0	118	1	1	11	105	0	118	2		0	0	0	0	0	2	1	1	100	421	0	117	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZHX3	23051	broad.mit.edu	37	20	39831542	39831542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39831542G>A	ENST00000309060.3	-	4	2430	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I|ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	p.T672S(1)		31		Myeloproliferative disorder(115;0.00425)			AGCCTTCTTGGTCTCCTCAGC	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000309060.3	1	1	hg19	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	6.876	0.531051	0.13127	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.12361	2.9;2.9;2.69	6.06	2.72	0.32119	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.475365	0.24182	N	0.040793	T	0.08802	0.0218	L	0.36672	1.1	0.19945	N	0.999941	B;B;P	0.36753	0.242;0.242;0.568	B;B;B	0.35655	0.065;0.071;0.207	T	0.19289	-1.0310	10	0.36615	T	0.2	-7.5284	2.984	0.05962	0.0838:0.2223:0.3897:0.3042	.	672;672;672	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	I	672;672;672;672;450	ENSP00000362360:T672I;ENSP00000442290:T672I;ENSP00000443783:T672I	ENSP00000312222:T672I	T	-	2	0	ZHX3	39264956	1.000000	0.71417	0.394000	0.26270	0.714000	0.41099	2.894000	0.48640	0.832000	0.34804	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	1	0	1	95	949	0	196	1	9.665975e-01	6	50	0	196	2		0	0	0	0	0	2	1	1	94	918	0	196	2								-19.999920	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.870000	1.000000	1.000000	0.987831	0.990000	1	9.700000e-01	1
ZHX3	23051	broad.mit.edu	37	20	39833400	39833400	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39833400C>A	ENST00000309060.3	-	4	572	c.157G>T	c.(157-159)Gca>Tca	p.A53S	ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3			31		Myeloproliferative disorder(115;0.00425)			GGGTTCTGTGCTGCCTCACTG	0.547000																								0							SO:0001583	missense			ENST00000309060.3	1	1	hg19	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329175	0.24167	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740;ENST00000373261;ENST00000436440	T;T;T;T;T	0.30182	1.54;2.97;2.97;2.75;1.54	5.61	2.6	0.31112	.	1.295780	0.04841	N	0.440561	T	0.21841	0.0526	N	0.25426	0.745	0.09310	N	1	B;B;B;P	0.38827	0.001;0.002;0.037;0.649	B;B;B;B	0.38428	0.007;0.007;0.02;0.273	T	0.07888	-1.0749	10	0.02654	T	1	-5.3323	10.506	0.44834	0.0:0.7867:0.0:0.2133	.	53;53;53;53	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	S	53	ENSP00000312222:A53S;ENSP00000362360:A53S;ENSP00000442290:A53S;ENSP00000443783:A53S;ENSP00000415498:A53S	ENSP00000312222:A53S	A	-	1	0	ZHX3	39266814	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	0.353000	0.20130	0.309000	0.22966	-0.140000	0.14226	GCA		TCGA-IB-7651-01A-11D-2154-08	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	1	0	1	96	459	0	85	1	9.879418e-01	5	30	0	85	2		0	0	0	0	0	2	1	1	94	455	1	84	21								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBCK1	10616	broad.mit.edu	37	20	400247	400247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:400247C>T	ENST00000356286.5	+	6	1333	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	RBCK1_ENST00000382181.2_Silent_p.R93R|RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1			5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)			CAAGCCCACGCGGCCTGGCTG	0.721000																								0							SO:0001583	missense			ENST00000356286.5	1	1	hg19	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485723	0.63962	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000400244;ENST00000400243	T;T	0.45276	0.9;0.9	4.73	-1.35	0.09114	Zinc finger, RanBP2-type (3);	0.131807	0.50627	D	0.000105	T	0.46405	0.1391	M	0.72353	2.195	0.80722	D	1	D;P;B	0.56035	0.974;0.812;0.322	P;B;B	0.47015	0.534;0.19;0.037	T	0.58451	-0.7634	10	0.87932	D	0	-17.207	15.1642	0.72807	0.7534:0.2466:0.0:0.0	.	200;168;210	B4E0F5;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	W	210;168;210;251	ENSP00000348632:R210W;ENSP00000254960:R168W	ENSP00000254960:R168W	R	+	1	2	RBCK1	348247	0.162000	0.22906	0.350000	0.25708	0.966000	0.64601	0.739000	0.26173	-0.431000	0.07307	-0.521000	0.04368	CGG		TCGA-IB-7651-01A-11D-2154-08	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	1	0	1	20	55	0	12	0	9.100143e-01	1	13	0	12	2		0	0	0	0	0	2	1	9.999980e-01	20	53	0	12	2								-20.000000	1	1	120726	1	27	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CHD6	84181	broad.mit.edu	37	20	40033726	40033726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40033726G>A	ENST00000373233.3	-	37	7832	c.7655C>T	c.(7654-7656)gCg>gTg	p.A2552V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			TGATAGAGACGCCGGAGCAGT	0.547000																								0							SO:0001583	missense			ENST00000373233.3	1	1	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222351	0.58560	.	.	ENSG00000124177	ENST00000373233	D	0.86956	-2.19	5.55	5.55	0.83447	.	0.209857	0.33834	N	0.004520	T	0.80949	0.4722	L	0.52573	1.65	0.80722	D	1	P	0.41131	0.739	B	0.28553	0.091	T	0.80736	-0.1249	10	0.33141	T	0.24	-9.0735	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	2552	Q8TD26	CHD6_HUMAN	V	2552	ENSP00000362330:A2552V	ENSP00000362330:A2552V	A	-	2	0	CHD6	39467140	0.993000	0.37304	0.887000	0.34795	0.882000	0.50991	4.988000	0.63863	2.894000	0.99253	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	0	20	702	0	126	0	3.224300e-01	1	39	0	126	2		0	0	0	0	0	2	1	9.999942e-01	20	689	0	125	2								-3.036188	1	1	121412	2	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.330000	0.200000	1.000000	0.330000	0.371695	0.330000	0	2.600000e-01	4.300000e-01
CHD6	84181	broad.mit.edu	37	20	40045244	40045244	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40045244G>A	ENST00000373233.3	-	33	6647	c.6470C>T	c.(6469-6471)gCg>gTg	p.A2157V	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			GATCTGGGCCGCCAATGCTGC	0.552000																								0							SO:0001583	missense			ENST00000373233.3	1	1	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	2.525	-0.309776	0.05458	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.46	2.2	0.27929	.	0.217621	0.32231	N	0.006392	T	0.49695	0.1572	N	0.00197	-1.87	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.52426	-0.8577	10	0.13853	T	0.58	-7.7668	7.6075	0.28110	0.5998:0.0:0.4002:0.0	.	2157	Q8TD26	CHD6_HUMAN	V	2157	ENSP00000362330:A2157V	ENSP00000362330:A2157V	A	-	2	0	CHD6	39478658	0.006000	0.16342	0.838000	0.33150	0.043000	0.13939	0.921000	0.28718	0.248000	0.21435	-0.126000	0.14955	GCG		TCGA-IB-7651-01A-11D-2154-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	0	19	514	0	98	0	3.480456e-01	1	32	0	98	2		0	0	0	0	0	2	1	9.999891e-01	18	505	0	97	2								-2.766977	1	1	121412	8	41	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.430000	0.260000	1.000000	0.410000	0.464508	0.430000	0	3.400000e-01	5.500000e-01
CHD6	84181	broad.mit.edu	37	20	40050062	40050062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40050062G>A	ENST00000373233.3	-	31	5390	c.5213C>T	c.(5212-5214)tCa>tTa	p.S1738L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			TTTGCTTATTGAGATGGTAAT	0.453000																								0							SO:0001583	missense			ENST00000373233.3	1	1	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	4.040	0.005104	0.07866	.	.	ENSG00000124177	ENST00000373233	D	0.85773	-2.03	6.03	5.0	0.66597	.	0.290117	0.25352	N	0.031290	T	0.72244	0.3436	N	0.12746	0.255	0.22034	N	0.999407	B	0.02656	0.0	B	0.04013	0.001	T	0.60850	-0.7181	10	0.41790	T	0.15	-11.2026	11.7484	0.51835	0.1082:0.0:0.8918:0.0	.	1738	Q8TD26	CHD6_HUMAN	L	1738	ENSP00000362330:S1738L	ENSP00000362330:S1738L	S	-	2	0	CHD6	39483476	0.275000	0.24201	0.073000	0.20177	0.002000	0.02628	1.859000	0.39418	2.861000	0.98227	0.655000	0.94253	TCA		TCGA-IB-7651-01A-11D-2154-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	1	0	0	24	463	0	112	0	3.829169e-01	1	25	0	112	2		0	0	0	0	0	2	1	9.999996e-01	26	455	0	109	2								-2.878565	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.590000	0.380000	1.000000	0.580000	0.617447	0.590000	0	4.800000e-01	7.400000e-01
CHD6	84181	broad.mit.edu	37	20	40052176	40052176	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40052176G>T	ENST00000373233.3	-	30	4688	c.4511C>A	c.(4510-4512)gCc>gAc	p.A1504D		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			CCGGCACATGGCCACAAAACT	0.418000																								0							SO:0001583	missense			ENST00000373233.3	1	1	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380218	0.82682	.	.	ENSG00000124177	ENST00000373233	D	0.89617	-2.54	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.194968	0.36482	N	0.002566	D	0.92773	0.7702	M	0.82323	2.585	0.80722	D	1	P	0.39883	0.693	P	0.45794	0.493	D	0.92712	0.6184	10	0.87932	D	0	-8.0985	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1504	Q8TD26	CHD6_HUMAN	D	1504	ENSP00000362330:A1504D	ENSP00000362330:A1504D	A	-	2	0	CHD6	39485590	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.654000	0.83653	2.884000	0.98904	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	1	0	1	314	1337	0	412	1	9.911617e-01	5	28	0	412	2		0	0	0	0	0	2	1	1	308	1314	0	411	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD6	84181	broad.mit.edu	37	20	40068746	40068746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40068746G>A	ENST00000373233.3	-	26	4078	c.3901C>T	c.(3901-3903)Cga>Tga	p.R1301*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			GGGTCTGCTCGCATGGCATTG	0.463000																								0							SO:0001587	stop_gained			ENST00000373233.3	0	1	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	44	10.586576	0.99432	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	.	.	.	5.74	2.59	0.31030	.	0.000000	0.45606	D	0.000357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9327	14.8072	0.69965	0.0:0.0:0.6242:0.3758	.	.	.	.	X	1301;784	.	ENSP00000308684:R784X	R	-	1	2	CHD6	39502160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.412000	0.52679	0.757000	0.33036	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	1	0	1	66	244	0	50	1	9.952667e-01	2	31	0	50	2		0	0	0	0	0	2	1	1	65	241	0	50	2								-3.793498	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD6	84181	broad.mit.edu	37	20	40081484	40081484	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40081484G>A	ENST00000373233.3	-	21	3396	c.3219C>T	c.(3217-3219)agC>agT	p.S1073S	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			CGTCTGAGTCGCTGTCTAACT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000373233.3	0	1	hg19	CCDS13317.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	0	10	428	0	73	0	2.375674e-01	0	37	0	73	2		0	0	0	0	0	2	1	9.964936e-01	10	416	0	71	2								-2.792689	1	1	121412	5	39	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.280000	0.140000	1.000000	0.270000	0.325658	0.280000	0	2.000000e-01	4.000000e-01
CHD6	84181	broad.mit.edu	37	20	40111947	40111947	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40111947A>G	ENST00000373233.3	-	16	2646		c.e16+1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			CACAAGTCTCACCTTCTCTGG	0.413000																								0							SO:0001630	splice_region_variant			ENST00000373233.3	1	1	hg19	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316159	0.81469	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2157	0.73264	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD6	39545361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.055000	0.93873	2.241000	0.73720	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	1	0	1	35	151	0	21	1	6.447313e-01	11	0	0	21	2		0	0	0	0	0	2	1	1	35	148	0	21	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD6	84181	broad.mit.edu	37	20	40118638	40118638	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40118638T>C	ENST00000373233.3	-	12	1637	c.1460A>G	c.(1459-1461)gAg>gGg	p.E487G	CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6			129		Myeloproliferative disorder(115;0.00425)			TAGGCCCATCTCATCAGCCAA	0.398000																								0							SO:0001583	missense			ENST00000373233.3	1	1	hg19	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.689115|4.689115	0.88735|0.88735	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.95788|.	-3.81;-3.81|.	5.27|5.27	5.27|5.27	0.74061|0.74061	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.56097|.	D|.	0.000027|.	D|D	0.88897|0.88897	0.6562|0.6562	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.93199|0.93199	0.6590|0.6590	10|5	0.87932|.	D|.	0|.	-25.288|-25.288	15.4838|15.4838	0.75548|0.75548	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	487|.	Q8TD26|.	CHD6_HUMAN|.	G|G	487|190	ENSP00000362330:E487G;ENSP00000308684:E487G|.	ENSP00000308684:E487G|.	E|R	-|-	2|1	0|2	CHD6|CHD6	39552052|39552052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.967000|7.967000	0.87967|0.87967	2.108000|2.108000	0.64289|0.64289	0.528000|0.528000	0.53228|0.53228	GAG|AGA		TCGA-IB-7651-01A-11D-2154-08	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0	0	0	28	733	0	123	0	2.040696e-01	1	21	0	123	2		0	0	0	0	0	2	1	1	28	722	0	123	2								-3.895740	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.440000	0.290000	1.000000	0.430000	0.472623	0.440000	0	3.600000e-01	5.400000e-01
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40735471G>A	ENST00000373187.1	-	24	3344	c.3345C>T	c.(3343-3345)tgC>tgT	p.C1115C	PTPRT_ENST00000373198.4_Silent_p.C1134C|PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373193.3_Silent_p.C1118C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			GCTCACGCACGCAGTTGAAGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000373187.1	1	1	hg19	CCDS42874.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1	116	482	0	92	0	3.828619e-02	0	2	0	92	2		0	0	0	0	0	2	1	1	115	476	0	90	2								-20.000000	1	1	121134	46	49	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRT	11122	broad.mit.edu	37	20	40739056	40739056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40739056G>A	ENST00000373187.1	-	23	3170	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	PTPRT_ENST00000373198.4_Silent_p.C1076C|PTPRT_ENST00000356100.2_Silent_p.C1066C|PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000373193.3_Silent_p.C1060C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			CAGTGGCATAGCAGGGAACGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000373187.1	1	1	hg19	CCDS42874.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1	50	286	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	49	276	0	52	2								-3.322685	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PTPRT	11122	broad.mit.edu	37	20	40748583	40748583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40748583G>A	ENST00000373187.1	-	20	2875	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	PTPRT_ENST00000373198.4_Missense_Mutation_p.A978V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			ACCTTGAGTCGCAATGTAGTG	0.507000																								0							SO:0001583	missense			ENST00000373187.1	1	1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704283	0.96812	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.6	5.6	0.85130	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.955	T	0.72513	-0.4270	10	0.87932	D	0	.	19.6134	0.95619	0.0:0.0:1.0:0.0	.	981;959	O14522-1;O14522	.;PTPRT_HUMAN	V	958;959;962;968;981;949;949	ENSP00000362286:A958V;ENSP00000362283:A959V;ENSP00000362289:A962V;ENSP00000348408:A968V;ENSP00000362294:A981V;ENSP00000362280:A949V;ENSP00000362297:A949V	ENSP00000348408:A968V	A	-	2	0	PTPRT	40181997	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.792000	0.99085	2.631000	0.89168	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1	93	450	0	107	0	0	0	1	0	107	2		0	0	0	0	0	2	1	1	91	441	0	104	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRT	11122	broad.mit.edu	37	20	40827933	40827933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827933G>A	ENST00000373187.1	-	16	2437	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V	PTPRT_ENST00000373198.4_Missense_Mutation_p.A832V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			ATTGCGGCTGGCGCTGAGCTT	0.572000																								0							SO:0001583	missense			ENST00000373187.1	1	1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886738	0.51908	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35048	1.36;1.36;1.35;1.35;1.35;1.33;1.33	6.03	4.09	0.47781	.	0.964896	0.08646	N	0.914735	T	0.29524	0.0736	N	0.22421	0.69	0.22199	N	0.999295	B;B	0.21821	0.061;0.021	B;B	0.22152	0.038;0.017	T	0.30208	-0.9986	10	0.52906	T	0.07	.	12.3664	0.55230	0.1346:0.0:0.8654:0.0	.	835;813	O14522-1;O14522	.;PTPRT_HUMAN	V	813;813;816;822;835;803;803	ENSP00000362286:A813V;ENSP00000362283:A813V;ENSP00000362289:A816V;ENSP00000348408:A822V;ENSP00000362294:A835V;ENSP00000362280:A803V;ENSP00000362297:A803V	ENSP00000348408:A822V	A	-	2	0	PTPRT	40261347	1.000000	0.71417	0.625000	0.29200	0.909000	0.53808	5.046000	0.64226	0.884000	0.36064	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1	181	1528	0	351		0	0	0	0	351	2		0	0	0	0	0	2	1	1	179	1485	0	350	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
RBCK1	10616	broad.mit.edu	37	20	409726	409726	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:409726C>T	ENST00000356286.5	+	11	2145	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	RBCK1_ENST00000382181.2_Silent_p.R310R|RBCK1_ENST00000353660.3_Silent_p.R438R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1			5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)			AGGGCCCACGCTGGGGCCCTG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000356286.5	1	1	hg19	CCDS13000.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	1	0	1	46	197	0	34	1	1	30	137	0	34	2		0	0	0	0	0	2	1	1	46	196	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRT	11122	broad.mit.edu	37	20	40980807	40980807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40980807G>A	ENST00000373187.1	-	10	1678	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	PTPRT_ENST00000373198.4_Missense_Mutation_p.T560I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			GGAATAGGTGGTCCCTGGGTA	0.557000																								0							SO:0001583	missense			ENST00000373187.1	1	1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102881	0.94245	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049111	0.85682	D	0.000000	D	0.84687	0.5527	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.989	D	0.86715	0.1938	10	0.87932	D	0	.	20.5541	0.99286	0.0:0.0:1.0:0.0	.	560;560	O14522-1;O14522	.;PTPRT_HUMAN	I	560	ENSP00000362286:T560I;ENSP00000362283:T560I;ENSP00000362289:T560I;ENSP00000348408:T560I;ENSP00000362294:T560I;ENSP00000362280:T560I;ENSP00000362297:T560I	ENSP00000348408:T560I	T	-	2	0	PTPRT	40414221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.864000	0.98301	0.551000	0.68910	ACC		TCGA-IB-7651-01A-11D-2154-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1	87	379	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	84	371	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRT	11122	broad.mit.edu	37	20	41420011	41420011	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:41420011C>T	ENST00000373187.1	-	3	309	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000373198.4_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			TAATGGAAGTCGATGCAGTGG	0.567000																								0							SO:0001583	missense			ENST00000373187.1	1	1	hg19	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783982	0.70222	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.051333	0.85682	D	0.000000	T	0.03915	0.0110	L	0.48642	1.525	0.58432	D	0.999993	B;B	0.30563	0.242;0.285	B;B	0.25614	0.037;0.062	T	0.47142	-0.9140	10	0.66056	D	0.02	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	104;104	O14522-1;O14522	.;PTPRT_HUMAN	N	104	ENSP00000362286:D104N;ENSP00000362283:D104N;ENSP00000362289:D104N;ENSP00000348408:D104N;ENSP00000362294:D104N;ENSP00000362280:D104N;ENSP00000362297:D104N	ENSP00000348408:D104N	D	-	1	0	PTPRT	40853425	0.996000	0.38824	0.996000	0.52242	0.959000	0.62525	3.318000	0.51975	2.676000	0.91093	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	1	0	1	57	225	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1	56	220	0	55	2								-20.000000	1	1	120884	1	30	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4168011G>A	ENST00000305958.4	+	7	1850	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SMOX_ENST00000339123.6_Missense_Mutation_p.R489H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000346595.2_Missense_Mutation_p.R177H	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase			26				Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632000																								0							SO:0001583	missense			ENST00000305958.4	1	1	hg19	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165618	0.38217	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460;ENST00000457205	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.22	4.27	0.50696	Amine oxidase (1);	0.050195	0.85682	D	0.000000	D	0.92202	0.7527	M	0.84948	2.725	0.54753	D	0.999986	B;P;B;B;B;P	0.37083	0.159;0.581;0.213;0.385;0.1;0.581	B;B;B;B;B;B	0.31016	0.039;0.123;0.023;0.071;0.035;0.123	D	0.91219	0.5005	10	0.54805	T	0.06	-12.7215	11.6125	0.51069	0.0867:0.0:0.9133:0.0	.	466;572;177;542;489;519	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	H	489;542;519;177;542;429	ENSP00000344595:R489H;ENSP00000307252:R542H;ENSP00000278795:R519H;ENSP00000341775:R177H;ENSP00000368773:R542H;ENSP00000407269:R429H	ENSP00000278795:R519H	R	+	2	0	SMOX	4116011	1.000000	0.71417	0.976000	0.42696	0.226000	0.24999	4.659000	0.61504	1.197000	0.43143	-0.145000	0.13849	CGC		TCGA-IB-7651-01A-11D-2154-08	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	1	0	1	75	300	0	76	1	1	35	70	0	76	2		0	0	0	0	0	2	1	1	73	292	0	75	2								-20.000000	1	1	121410	4	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGK2	10110	broad.mit.edu	37	20	42208675	42208675	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42208675C>T	ENST00000341458.4	+	11	1312	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000373077.1_Silent_p.L304L|SGK2_ENST00000373100.1_Silent_p.L305L|SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000426287.1_Silent_p.L331L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2			27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)		CCACAAGAGGCTAACTCCACC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000341458.4	1	1	hg19	CCDS13320.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1	1	0	1	48	251	0	71	1	4.426256e-01	2	7	0	71	2		0	0	0	0	0	2	1	1	46	246	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT52	51098	broad.mit.edu	37	20	42233661	42233661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42233661G>A	ENST00000373030.3	+	6	563	c.433G>A	c.(433-435)Gga>Aga	p.G145R	IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52			21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)		CCGAGCTGCAGGAAAGGCTGT	0.388000																								0							SO:0001583	missense			ENST00000373030.3	1	1	hg19	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012953	0.54468	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.99	4.99	0.66335	.	0.049267	0.85682	D	0.000000	T	0.62368	0.2422	M	0.66506	2.035	0.80722	D	1	P	0.34934	0.476	B	0.33890	0.172	T	0.65957	-0.6042	9	0.48119	T	0.1	-7.7292	17.4356	0.87550	0.0:0.0:1.0:0.0	.	145	Q9Y366	IFT52_HUMAN	R	145	.	ENSP00000362121:G145R	G	+	1	0	IFT52	41667075	1.000000	0.71417	0.994000	0.49952	0.569000	0.35902	7.176000	0.77643	2.480000	0.83734	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	1	0	1	34	176	0	52	1	1	39	131	0	52	2		0	0	0	0	0	2	1	1	34	174	0	52	2								-3.116764	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
MYBL2	4605	broad.mit.edu	37	20	42328479	42328479	+	Missense_Mutation	SNP	C	C	T	rs142211101	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42328479C>T	ENST00000217026.4	+	7	873	c.746C>T	c.(745-747)aCc>aTc	p.T249I	MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2			46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)		GCAGCAGCCACCACATCGAAG	0.552000																								0							SO:0001583	missense			ENST00000217026.4	1	1	hg19	CCDS13322.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	11.82	1.751527	0.31046	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.46	4.77	4.77	0.60923	.	1.690320	0.02888	N	0.133759	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	B;B	0.34103	0.135;0.437	B;B	0.27500	0.071;0.08	T	0.24548	-1.0157	10	0.36615	T	0.2	-3.3195	14.0289	0.64604	0.0:1.0:0.0:0.0	.	225;249	F8W6N6;P10244	.;MYBB_HUMAN	I	225;249	ENSP00000380072:T225I;ENSP00000217026:T249I	ENSP00000217026:T249I	T	+	2	0	MYBL2	41761893	0.002000	0.14202	0.006000	0.13384	0.046000	0.14306	0.854000	0.27791	2.575000	0.86900	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	1	0	0	8	180	0	42	1	3.133022e-01	6	18	0	42	2		0	0	0	0	0	2	1	9.891446e-01	8	177	0	42	2								-10.650520	1	1	121412	10	38	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.530000	0.250000	1.000000	0.500000	0.566147	0.530000	0	3.700000e-01	7.600000e-01
MYBL2	4605	broad.mit.edu	37	20	42340139	42340139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42340139G>A	ENST00000217026.4	+	11	1744	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	MYBL2_ENST00000396863.4_Silent_p.P515P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2			46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)		CACAGACCCCGCACCTGGAGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000217026.4	1	1	hg19	CCDS13322.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	1	0	1	16	88	0	26	1	9.945692e-01	3	48	0	26	2		0	0	0	0	0	2	1	9.999545e-01	15	88	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.998842	0.990000	1	9.900000e-01	1
TOX2	84969	broad.mit.edu	37	20	42683164	42683164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683164C>T	ENST00000358131.5	+	5	1112	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q293*|TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q251*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2			26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)		GGAACAGAAGCAGGTGAGCCT	0.582000																								0							SO:0001587	stop_gained			ENST00000358131.5	0	1	hg19	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.147499	0.98096	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2447	0.89981	0.0:1.0:0.0:0.0	.	.	.	.	X	293;251;251;302;171	.	ENSP00000344724:Q293X	Q	+	1	0	TOX2	42116578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.556000	0.86216	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	0	27	106	0	20	0	9.625727e-01	0	24	0	20	2		0	0	0	0	0	2	1	1	27	104	0	20	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TOX2	84969	broad.mit.edu	37	20	42694624	42694624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42694624C>T	ENST00000358131.5	+	6	1387	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	TOX2_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.H411H|TOX2_ENST00000423191.2_Silent_p.H369H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2			26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)		TGCCCCCTCACGCCCAGGGCG	0.701000																								0							SO:0001819	synonymous_variant			ENST00000358131.5	1	1	hg19	CCDS42875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	0	53	235	0	51	0	1.611057e-01	0	4	0	51	2		0	0	0	0	0	2	1	1	51	230	0	49	2								-20.000000	1	1	121298	41	44	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOX2	84969	broad.mit.edu	37	20	42695431	42695431	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42695431A>G	ENST00000358131.5	+	7	1572	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.N473S|TOX2_ENST00000423191.2_Missense_Mutation_p.N431S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2			26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)		GGCCCATCCAACCCCACCAGC	0.637000																								0							SO:0001583	missense			ENST00000358131.5	1	1	hg19	CCDS42875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.373|8.373	0.835797|0.835797	0.16820|0.16820	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864|ENST00000372992;ENST00000413823	T;T;T;T;T|.	0.17370|.	2.6;2.6;2.6;2.28;2.32|.	5.78|5.78	2.26|2.26	0.28386|0.28386	.|.	0.655368|.	0.14705|.	N|.	0.303308|.	T|T	0.54046|0.54046	0.1834|0.1834	L|L	0.58810|0.58810	1.83|1.83	0.36582|0.36582	D|D	0.873572|0.873572	B;P;P;P|.	0.47106|.	0.011;0.89;0.824;0.622|.	B;B;B;B|.	0.43413|.	0.005;0.419;0.3;0.152|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|6	0.42905|0.87932	T|D	0.14|0	.|.	5.3812|5.3812	0.16192|0.16192	0.7002:0.148:0.1518:0.0|0.7002:0.148:0.1518:0.0	.|.	351;473;455;431|.	B4DQV8;G3XAC7;Q96NM4;E1P5X0|.	.;.;TOX2_HUMAN;.|.	S|A	473;431;431;455;351|80	ENSP00000344724:N473S;ENSP00000390278:N431S;ENSP00000362090:N431S;ENSP00000350849:N455S;ENSP00000396777:N351S|.	ENSP00000344724:N473S|ENSP00000362083:T80A	N|T	+|+	2|1	0|0	TOX2|TOX2	42128845|42128845	1.000000|1.000000	0.71417|0.71417	0.493000|0.493000	0.27502|0.27502	0.197000|0.197000	0.23852|0.23852	2.105000|2.105000	0.41825|0.41825	0.102000|0.102000	0.17638|0.17638	0.533000|0.533000	0.62120|0.62120	AAC|ACC		TCGA-IB-7651-01A-11D-2154-08	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	1	133	623	0	136	0	6.514454e-01	0	12	0	136	2		0	0	0	0	0	2	1	1	129	604	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JPH2	57158	broad.mit.edu	37	20	42744440	42744440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42744440C>T	ENST00000372980.3	-	4	2747	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2			32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		GGATGATGGGCTTGGGCTCCA	0.741000																								0							SO:0001819	synonymous_variant			ENST00000372980.3	1	1	hg19	CCDS13325.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1	1	0	0	38	188	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	1	35	182	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
JPH2	57158	broad.mit.edu	37	20	42788611	42788611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42788611G>A	ENST00000372980.3	-	2	1688	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2			32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		CCTCGTCGGCGCCCTCGGCGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000372980.3	1	1	hg19	CCDS13325.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1	1	0	0	16	75	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999575e-01	16	74	0	14	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999603	0.990000	1	9.900000e-01	1
GDAP1L1	78997	broad.mit.edu	37	20	42907813	42907813	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42907813T>A	ENST00000342560.5	+	6	1065	c.977T>A	c.(976-978)gTc>gAc	p.V326D	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1			18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		CTGTCGGCCGTCATCCCCAAT	0.612000																								0							SO:0001583	missense			ENST00000342560.5	1	1	hg19	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298469	0.81025	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000537864	D;D;D	0.98419	-4.92;-4.92;-4.92	5.14	5.14	0.70334	Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.991;0.997;0.996	D	0.99834	1.1056	10	0.87932	D	0	.	15.2475	0.73517	0.0:0.0:0.0:1.0	.	268;345;326	B7Z1I3;B7Z621;Q96MZ0	.;.;GD1L1_HUMAN	D	326;321;268;292;268;134	ENSP00000341782:V326D;ENSP00000392881:V268D;ENSP00000440498:V134D	ENSP00000341782:V326D	V	+	2	0	GDAP1L1	42341227	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.565000	0.82337	2.064000	0.61679	0.482000	0.46254	GTC		TCGA-IB-7651-01A-11D-2154-08	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	1	0	1	164	548	0	141		0	0	0	0	141	2		0	0	0	0	0	2	1	1	155	536	1	138	17								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FITM2	128486	broad.mit.edu	37	20	42935305	42935305	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935305C>A	ENST00000396825.3	-	2	769	c.749G>T	c.(748-750)aGc>aTc	p.S250I		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2			6					CAAACTACAGCTCTGGGGAGG	0.423000																								0							SO:0001583	missense			ENST00000396825.3	1	1	hg19	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748150	0.15710	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.76	3.81	0.43845	.	0.338611	0.37530	N	0.002041	T	0.38878	0.1057	L	0.34521	1.04	0.34742	D	0.730827	B	0.23316	0.083	B	0.15870	0.014	T	0.46119	-0.9214	9	0.59425	D	0.04	.	8.5745	0.33590	0.0:0.7255:0.1277:0.1468	.	250	Q8N6M3	FITM2_HUMAN	I	250	.	ENSP00000380037:S250I	S	-	2	0	FITM2	42368719	0.462000	0.25791	0.864000	0.33941	0.123000	0.20343	0.806000	0.27126	0.760000	0.33108	-0.150000	0.13652	AGC		TCGA-IB-7651-01A-11D-2154-08	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	1	0	1	64	361	0	71	1	8.246743e-01	6	14	0	71	2		0	0	0	0	0	2	1	1	63	349	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FITM2	128486	broad.mit.edu	37	20	42935595	42935595	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935595T>C	ENST00000396825.3	-	2	479	c.459A>G	c.(457-459)tcA>tcG	p.S153S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2			6					AGGAGTGACCTGAGATGTCAA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000396825.3	1	1	hg19	CCDS33473.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	0	0	0	9	279	0	60	1	2.522020e-01	2	26	0	60	2		0	0	0	0	0	2	1	9.937515e-01	9	272	0	59	2								-10.219750	1	1	121412	2	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.390000	0.190000	1.000000	0.370000	0.429182	0.390000	0	2.700000e-01	5.500000e-01
TTPAL	79183	broad.mit.edu	37	20	43117903	43117903	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43117903G>A	ENST00000372904.3	+	6	893		c.e6-1		TTPAL_ENST00000262605.4_Splice_Site|TTPAL_ENST00000372906.2_Splice_Site	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like			18					TTCCCTTTTAGTTCTTCCTCC	0.463000																								0							SO:0001630	splice_region_variant			ENST00000372904.3	1	1	hg19	CCDS13332.2	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713898	0.68730	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000372906;ENST00000456317	.	.	.	6.04	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0869	0.72162	0.0673:0.0:0.9327:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTPAL	42551317	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.599000	0.98280	1.571000	0.49722	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	1	0	1	42	214	0	57	1	4.552108e-01	8	1	0	57	2		0	0	0	0	0	2	1	1	43	207	0	57	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SERINC3	10955	broad.mit.edu	37	20	43133515	43133515	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43133515G>A	ENST00000342374.4	-	7	958	c.801C>T	c.(799-801)tcC>tcT	p.S267S	SERINC3_ENST00000541235.1_Silent_p.S212S|SERINC3_ENST00000255175.1_Silent_p.S267S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3			18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		GCAAGAGGCCGGAGCGAGGCT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000342374.4	1	1	hg19	CCDS13333.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	1	0	1	33	154	0	35	1	1	131	549	0	35	2		0	0	0	0	0	2	1	1	33	152	0	34	2								-2.712050	1	1	121412	7	40	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SERINC3	10955	broad.mit.edu	37	20	43135535	43135535	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43135535A>G	ENST00000342374.4	-	6	873	c.716T>C	c.(715-717)tTc>tCc	p.F239S	SERINC3_ENST00000541235.1_Missense_Mutation_p.F184S|SERINC3_ENST00000255175.1_Missense_Mutation_p.F239S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3			18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		ACTGATGAAGAACTTGTTTTC	0.393000																								0							SO:0001583	missense			ENST00000342374.4	0	1	hg19	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145433	0.77888	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.15017	2.46;2.46;2.46	4.75	3.62	0.41486	.	0.187687	0.64402	D	0.000018	T	0.27419	0.0673	M	0.80982	2.52	0.58432	D	0.999993	P;B	0.34462	0.454;0.292	B;B	0.39935	0.314;0.232	T	0.05699	-1.0869	10	0.54805	T	0.06	.	11.7919	0.52073	0.8529:0.1471:0.0:0.0	.	239;239	Q53GK8;Q13530	.;SERC3_HUMAN	S	239;239;206;184	ENSP00000255175:F239S;ENSP00000340243:F239S;ENSP00000440966:F184S	ENSP00000255175:F239S	F	-	2	0	SERINC3	42568949	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.738000	0.47401	0.918000	0.36919	0.383000	0.25322	TTC		TCGA-IB-7651-01A-11D-2154-08	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	0	0	0	7	371	0	79	1	9.941617e-01	17	494	0	79	2		0	0	0	0	0	2	1	9.793105e-01	7	363	0	79	2								-7.178083	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.230000	0.100000	1.000000	0.220000	0.281248	0.230000	0	1.500000e-01	3.500000e-01
WISP2	8839	broad.mit.edu	37	20	43353497	43353497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43353497G>A	ENST00000372868.2	+	4	739	c.396G>A	c.(394-396)ccG>ccA	p.P132P	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.P132P|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2			1		Myeloproliferative disorder(115;0.0122)			CCTGCGTGCCGCTGTGCAGCG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000372868.2	1	1	hg19	CCDS13336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	1	0	1	21	61	0	11	0	1.730506e-01	1	2	0	11	2		0	0	0	0	0	2	1	9.999987e-01	19	59	0	10	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
RIMS4	140730	broad.mit.edu	37	20	43386371	43386371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43386371C>T	ENST00000372851.3	-	4	457	c.391G>A	c.(391-393)Gag>Aag	p.E131K	RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4			29		Myeloproliferative disorder(115;0.0122)			ATGTCCACCTCCAACTGACCG	0.592000																								0							SO:0001583	missense			ENST00000372851.3	1	1	hg19	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	36	5.779694	0.96929	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.68765	-0.35;-0.35	5.76	5.76	0.90799	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.69307	0.919;0.963	T	0.82100	-0.0624	10	0.87932	D	0	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	132;131	E1P613;Q9H426	.;RIMS4_HUMAN	K	131;132	ENSP00000361942:E131K;ENSP00000439287:E132K	ENSP00000361942:E131K	E	-	1	0	RIMS4	42819785	1.000000	0.71417	0.968000	0.41197	0.912000	0.54170	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	1	0	1	94	480	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	89	471	0	99	2								-2.781152	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YWHAB	7529	broad.mit.edu	37	20	43530459	43530459	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43530459C>T	ENST00000372839.3	+	3	559	c.285C>T	c.(283-285)atC>atT	p.I95I	YWHAB_ENST00000353703.4_Silent_p.I95I|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta			12		Myeloproliferative disorder(115;0.0122)			TGCAGGACATCTGCAATGATG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000372839.3	1	1	hg19	CCDS13339.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	1	0	1	82	383	0	102	1	1	229	628	0	102	2		0	0	0	0	0	2	1	1	80	373	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PABPC1L	80336	broad.mit.edu	37	20	43561803	43561803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43561803C>T	ENST00000217073.2	+	10	1421	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000372824.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M|PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like			20					GTGCCACGCACGGTGCCTCAT	0.647000																								0							SO:0001583	missense			ENST00000217073.2	0	1	hg19	CCDS42878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.195|3.195	-0.164928|-0.164928	0.06502|0.06502	0.0|0.0	2.79E-4|2.79E-4	ENSG00000101104|ENSG00000101104	ENST00000372826|ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075	.|T;T;T;T;T	.|0.42513	.|2.45;2.45;0.99;0.99;0.97	5.8|5.8	-5.13|-5.13	0.02884|0.02884	.|.	.|2.038600	.|0.01959	.|N	.|0.043214	T|T	0.14485|0.14485	0.0350|0.0350	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;P	.|0.39782	.|0.053;0.688	.|B;B	.|0.30251	.|0.011;0.113	T|T	0.16630|0.16630	-1.0396|-1.0396	5|10	.|0.38643	.|T	.|0.18	.|.	5.5724|5.5724	0.17204|0.17204	0.3691:0.2486:0.0:0.3823|0.3691:0.2486:0.0:0.3823	.|.	.|474;28	.|Q4VXU2;G5E9L3	.|PAP1L_HUMAN;.	W|M	10|474;28;28;474;28;28;28	.|ENSP00000255136:T474M;ENSP00000217073:T474M;ENSP00000361911:T28M;ENSP00000361906:T28M;ENSP00000217075:T28M	.|ENSP00000217073:T474M	R|T	+|+	1|2	2|0	PABPC1L|PABPC1L	42995217|42995217	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.325000|-0.325000	0.07976|0.07976	-1.877000|-1.877000	0.01129|0.01129	-0.797000|-0.797000	0.03246|0.03246	CGG|ACG		TCGA-IB-7651-01A-11D-2154-08	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2	0	0	0	4	63	0	14	1	3.445497e-01	3	14	0	14	2		0	0	0	0	0	2	1	8.889039e-01	4	62	0	12	2								-8.214507	1	1	120492	4	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.760000	0.260000	1.000000	1.000000	0.746049	0.760000	0	4.700000e-01	1
TOMM34	10953	broad.mit.edu	37	20	43577463	43577463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43577463C>A	ENST00000372813.3	-	5	758	c.606G>T	c.(604-606)gaG>gaT	p.E202D	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34			11		Myeloproliferative disorder(115;0.0122)			TCTTTACAAGCTCATTGCCTT	0.453000																								0							SO:0001583	missense			ENST00000372813.3	1	1	hg19	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493880	0.26774	.	.	ENSG00000025772	ENST00000372813	T	0.74209	-0.82	5.55	3.61	0.41365	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.317848	0.33144	N	0.005230	T	0.61098	0.2320	L	0.49350	1.555	0.23879	N	0.996584	B	0.09022	0.002	B	0.06405	0.002	T	0.41574	-0.9501	10	0.13853	T	0.58	-16.6456	5.1116	0.14811	0.0:0.6308:0.1648:0.2044	.	202	Q15785	TOM34_HUMAN	D	202	ENSP00000361900:E202D	ENSP00000361900:E202D	E	-	3	2	TOMM34	43010877	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.329000	0.19698	0.886000	0.36113	0.585000	0.79938	GAG		TCGA-IB-7651-01A-11D-2154-08	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	0	0	1	57	258	1	55	1	9.998465e-01	47	113	1	55	11		0	0	0	0	0	2	1	9.999994e-01	57	247	1	54	18								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNS1	3787	broad.mit.edu	37	20	43727300	43727300	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43727300C>T	ENST00000306117.1	-	4	509	c.113G>A	c.(112-114)gGc>gAc	p.G38D	KCNS1_ENST00000537075.1_Missense_Mutation_p.G38D	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1			6		Myeloproliferative disorder(115;0.0122)			GGTGTCGGGGCCCGGGAACTC	0.697000																								0							SO:0001583	missense			ENST00000306117.1	0	1	hg19	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.240233	0.01493	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96104	-3.91;-3.91	4.6	-0.95	0.10372	.	18.571000	0.00481	N	0.000133	D	0.87807	0.6270	N	0.08118	0	0.09310	N	1	B	0.23377	0.084	B	0.23574	0.047	T	0.81019	-0.1122	10	0.18710	T	0.47	.	4.4773	0.11750	0.2814:0.4911:0.0:0.2276	.	38	Q96KK3	KCNS1_HUMAN	D	38	ENSP00000307694:G38D;ENSP00000445595:G38D	ENSP00000307694:G38D	G	-	2	0	KCNS1	43160714	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.458000	0.06737	-0.489000	0.06716	-1.138000	0.01928	GGC		TCGA-IB-7651-01A-11D-2154-08	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	0	0	0	11	58	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.986935e-01	11	57	0	9	2								-19.728970	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.970000	1.000000	1.000000	0.996612	0.990000	1	9.900000e-01	1
MATN4	8785	broad.mit.edu	37	20	43933168	43933168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43933168G>T	ENST00000372754.1	-	2	351	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.L115M|MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M|MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000360607.6_Missense_Mutation_p.L115M|RBPJL_ENST00000372741.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4			27		Myeloproliferative disorder(115;0.0122)			TGGATTGCCAGTCCCGTCATG	0.677000																								0							SO:0001583	missense			ENST00000372754.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.1	3.932685	0.73442	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.81	3.83	0.44106	.	0.000000	0.34580	N	0.003846	D	0.90202	0.6937	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.982;1.0;0.994	D	0.90114	0.4194	10	0.52906	T	0.07	.	11.3513	0.49589	0.1481:0.0:0.8519:0.0	.	115;115;115	A6NNA4;O95460-4;O95460-2	.;.;.	M	115	ENSP00000361840:L115M;ENSP00000361842:L115M;ENSP00000243983:L115M;ENSP00000353819:L115M;ENSP00000343164:L115M;ENSP00000440328:L115M	ENSP00000255132:L115M	L	-	1	2	MATN4	43366582	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.524000	0.67105	2.506000	0.84524	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1	1	0	1	27	88	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	1	27	87	0	12	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBPJL	11317	broad.mit.edu	37	20	43944880	43944880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43944880C>T	ENST00000343694.3	+	10	1146	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372743.1_Silent_p.C358C|RBPJL_ENST00000372741.3_Silent_p.C358C	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like			19		Myeloproliferative disorder(115;0.0122)			ACAGCTCTTGCTGGACCATCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000343694.3	1	1	hg19	CCDS13349.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	1	0	1	49	358	0	99	1	1.615236e-01	2	4	0	99	2		0	0	0	0	0	2	1	1	47	355	0	98	2								-18.890790	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999688	0.990000	1	9.900000e-01	1
SDC4	6385	broad.mit.edu	37	20	43959025	43959025	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959025C>A	ENST00000372733.3	-	4	465	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4		SDC4/ROS1(7)	5		Myeloproliferative disorder(115;0.0122)			CCTCCGTTCTCTCAAAGATGT	0.547000			T	ROS1	NSCLC										Dom	yes		20	20q12	6385	syndecan 4		E	0							SO:0001583	missense			ENST00000372733.3	1	1	hg19	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439599	0.63067	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.33865	1.39	5.93	2.97	0.34412	.	0.104334	0.64402	D	0.000003	T	0.45558	0.1348	L	0.53249	1.67	0.39346	D	0.965676	D	0.63046	0.992	P	0.60682	0.878	T	0.31024	-0.9958	10	0.33940	T	0.23	-35.7483	8.0908	0.30799	0.0:0.6743:0.0:0.3257	.	142	P31431	SDC4_HUMAN	D	142;70	ENSP00000361818:E142D	ENSP00000361818:E142D	E	-	3	2	SDC4	43392439	0.942000	0.31987	1.000000	0.80357	0.843000	0.47879	0.009000	0.13219	0.407000	0.25591	-0.126000	0.14955	GAG		TCGA-IB-7651-01A-11D-2154-08	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	1	0	1	74	285	0	87	1	1	193	453	0	87	2		0	0	0	0	0	2	1	1	72	281	0	87	2								-3.180657	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDC4	6385	broad.mit.edu	37	20	43959167	43959167	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959167G>T	ENST00000372733.3	-	4	323	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4		SDC4/ROS1(7)	5		Myeloproliferative disorder(115;0.0122)			TTGGCTCCCAGACCCTGCCCT	0.532000			T	ROS1	NSCLC										Dom	yes		20	20q12	6385	syndecan 4		E	0							SO:0001583	missense			ENST00000372733.3	1	1	hg19	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094382	0.36952	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.31769	1.48	5.68	4.73	0.59995	.	0.571570	0.15256	N	0.272065	T	0.24431	0.0592	N	0.14661	0.345	0.09310	N	1	P	0.47545	0.897	P	0.48571	0.582	T	0.06127	-1.0844	10	0.62326	D	0.03	-1.355	7.81	0.29226	0.0825:0.0:0.7478:0.1697	.	95	P31431	SDC4_HUMAN	Y	95;23	ENSP00000361818:S95Y	ENSP00000361818:S95Y	S	-	2	0	SDC4	43392581	0.259000	0.24043	0.943000	0.38184	0.300000	0.27592	2.058000	0.41374	1.403000	0.46800	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	1	0	1	38	182	0	43	1	1	179	486	0	43	2		0	0	0	0	0	2	1	1	38	180	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TP53TG5	27296	broad.mit.edu	37	20	44004154	44004154	+	Missense_Mutation	SNP	T	T	G	rs141285348	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44004154T>G	ENST00000372726.3	-	4	449	c.293A>C	c.(292-294)gAa>gCa	p.E98A	SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.E82A|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000494455.1_5'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5			12					CTGGAACTCTTCATTATTTTG	0.498000																								0							SO:0001583	missense			ENST00000372726.3	1	0	hg19	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	T	7.551	0.662723	0.14645	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.15372	2.43;2.43	4.22	-4.18	0.03846	.	1.781260	0.02240	N	0.065655	T	0.12263	0.0298	L	0.38175	1.15	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.20009	-1.0288	10	0.25751	T	0.34	4.3742	4.5476	0.12088	0.1337:0.0885:0.5426:0.2351	.	98	Q9Y2B4	T53G5_HUMAN	A	98;82	ENSP00000361811:E98A;ENSP00000438374:E82A	ENSP00000361811:E98A	E	-	2	0	TP53TG5	43437568	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.001000	0.12947	-0.867000	0.04063	-0.313000	0.08912	GAA		TCGA-IB-7651-01A-11D-2154-08	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	1	0	1	149	567	0	101	0	1.950456e-01	0	4	0	101	2		0	0	0	0	0	2	1	1	154	554	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DBNDD2	55861	broad.mit.edu	37	20	44037151	44037151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44037151G>A	ENST00000372720.3	+	2	569	c.338G>A	c.(337-339)cGc>cAc	p.R113H	SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372712.2_Missense_Mutation_p.R15H	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2			3		Myeloproliferative disorder(115;0.0122)			CAGCAGCTCCGCCTTCGGGAG	0.547000																								0							SO:0001583	missense			ENST00000372720.3	1	1	hg19	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.868796|4.868796	0.91587|0.91587	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000443296|ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710	.|T;T;T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.61|5.61	4.65|4.65	0.58169|0.58169	.|.	.|0.142639	.|0.45606	.|D	.|0.000356	T|T	0.26159|0.26159	0.0638|0.0638	M|M	0.62723|0.62723	1.935|1.935	0.38404|0.38404	D|D	0.945735|0.945735	.|B;B	.|0.31351	.|0.155;0.32	.|B;B	.|0.20955	.|0.022;0.032	T|T	0.19679|0.19679	-1.0298|-1.0298	5|10	.|0.54805	.|T	.|0.06	.|.	7.207|7.207	0.25913|0.25913	0.1654:0.0:0.8346:0.0|0.1654:0.0:0.8346:0.0	.|.	.|15;113	.|Q5QPV4;Q9BQY9	.|.;DBND2_HUMAN	T|H	75|15;15;15;113;15;15;15;117	.|ENSP00000361808:R15H;ENSP00000361807:R15H;ENSP00000349822:R15H;ENSP00000361805:R113H;ENSP00000361802:R15H;ENSP00000354250:R15H;ENSP00000361797:R15H;ENSP00000361795:R117H	.|ENSP00000349822:R15H	A|R	+|+	1|2	0|0	DBNDD2|DBNDD2	43470565|43470565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	5.342000|5.342000	0.65970|0.65970	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GCC|CGC		TCGA-IB-7651-01A-11D-2154-08	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	1	0	1	113	477	0	84	1	1	72	180	0	84	2		0	0	0	0	0	2	1	1	111	469	0	82	2								-3.484541	1	1	120828	1	27	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WFDC3	140686	broad.mit.edu	37	20	44405742	44405742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44405742G>A	ENST00000243938.4	-	5	548	c.465C>T	c.(463-465)ggC>ggT	p.G155G	WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Intron|RNU6ATAC38P_ENST00000408119.1_RNA|WFDC3_ENST00000481847.1_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3			5		Myeloproliferative disorder(115;0.0122)			GGCAGGTGCGGCCACAGCCGG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000243938.4	1	1	hg19	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278801	0.10458	.	.	ENSG00000124116	ENST00000337205	.	.	.	4.62	-5.88	0.02290	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.44966	D	0.99798	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-18.3447	0.1543	0.00096	0.3196:0.237:0.2028:0.2406	.	.	.	.	V	149	.	.	A	-	2	0	WFDC3	43839149	0.017000	0.18338	0.095000	0.20976	0.737000	0.42083	-1.363000	0.02592	-0.847000	0.04168	-0.137000	0.14449	GCC		TCGA-IB-7651-01A-11D-2154-08	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1	1	0	1	55	208	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1	51	206	0	56	2								-3.355311	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNTTIP1	116092	broad.mit.edu	37	20	44430041	44430041	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44430041C>T	ENST00000372622.3	+	6	510	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1			9		Myeloproliferative disorder(115;0.0122)			TTTCTTTTAGCGTGGCCGTCA	0.522000																								0							SO:0001630	splice_region_variant			ENST00000372622.3	1	0	hg19	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.970557|3.970557	0.74246|0.74246	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000372622;ENST00000415790	.|T;T	.|0.52057	.|0.8;0.68	6.06|6.06	5.08|5.08	0.68730|0.68730	.|.	.|0.165435	.|0.46758	.|D	.|0.000273	T|T	0.63343|0.63343	0.2503|0.2503	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69824	.|0.966	T|T	0.60672|0.60672	-0.7217|-0.7217	5|9	.|.	.|.	.|.	-10.899|-10.899	13.2985|13.2985	0.60311|0.60311	0.2813:0.7187:0.0:0.0|0.2813:0.7187:0.0:0.0	.|.	.|148	.|Q9H147	.|TDIF1_HUMAN	V|C	98|148;108	.|ENSP00000361705:R148C;ENSP00000392509:R108C	.|.	A|R	+|+	2|1	0|0	DNTTIP1|DNTTIP1	43863448|43863448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	2.741000|2.741000	0.47426|0.47426	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCG|CGT		TCGA-IB-7651-01A-11D-2154-08	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	1	0	1	89	415	0	99	1	1	51	176	0	99	2		0	0	0	0	0	2	1	1	90	408	0	96	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNNC2	7125	broad.mit.edu	37	20	44452970	44452970	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44452970C>A	ENST00000372555.3	-	4	367	c.275G>T	c.(274-276)aGc>aTc	p.S92I	TNNC2_ENST00000372557.1_Missense_Mutation_p.S77I	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)			5		Myeloproliferative disorder(115;0.0122)		Felodipine(DB01023)	CTCCTCCTCGCTCTTCCCTTT	0.657000																								0							SO:0001583	missense			ENST00000372555.3	1	1	hg19	CCDS13375.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794949	0.50208	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.63744	-0.06;-0.06	4.48	2.39	0.29439	EF-hand-like domain (1);	0.085611	0.85682	D	0.000000	T	0.56790	0.2009	M	0.63843	1.955	0.53688	D	0.999974	P	0.39060	0.657	B	0.34180	0.177	T	0.66329	-0.5951	10	0.87932	D	0	-21.9345	14.1434	0.65334	0.0:0.5939:0.4061:0.0	.	92	P02585	TNNC2_HUMAN	I	77;92	ENSP00000361638:S77I;ENSP00000361636:S92I	ENSP00000361636:S92I	S	-	2	0	TNNC2	43886377	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.604000	0.36804	1.085000	0.41206	0.544000	0.68410	AGC		TCGA-IB-7651-01A-11D-2154-08	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	1	0	1	78	354	0	75	0	8.799059e-02	1	2	0	75	2		0	0	0	0	0	2	1	1	77	350	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX21	90203	broad.mit.edu	37	20	44463645	44463645	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44463645C>T	ENST00000491381.1	+	3	405	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000372542.1_Missense_Mutation_p.R104W|SNX21_ENST00000462307.1_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W			Q969T3	SNX21_HUMAN	sorting nexin family member 21			7		Myeloproliferative disorder(115;0.0122)			GCTCCTGGCGCGGCAGCTGCA	0.617000																								0							SO:0001583	missense			ENST00000491381.1	1	1	hg19	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132239	0.56828	.	.	ENSG00000124104	ENST00000462307;ENST00000491381;ENST00000342644;ENST00000372542;ENST00000372541;ENST00000372545	T;T;T	0.54866	0.63;0.55;0.64	5.25	2.09	0.27110	.	0.239788	0.33401	N	0.004947	T	0.55401	0.1918	N	0.24115	0.695	0.24096	N	0.995898	D;D;D;D;D;D	0.89917	0.998;0.998;0.99;0.999;1.0;0.999	P;P;P;P;D;P	0.68765	0.809;0.876;0.712;0.809;0.96;0.893	T	0.52917	-0.8511	10	0.87932	D	0	-9.7916	12.2554	0.54621	0.5113:0.4887:0.0:0.0	.	104;104;113;113;113;113	Q5JZH4;Q5JZH3;Q969T3;Q5JZH7;Q05DJ0;Q5JZH5	.;.;SNX21_HUMAN;.;.;.	W	113;113;113;104;104;104	ENSP00000418593:R113W;ENSP00000344586:R113W;ENSP00000361620:R104W	ENSP00000344586:R113W	R	+	1	2	SNX21	43897052	0.979000	0.34478	0.022000	0.16811	0.267000	0.26476	1.715000	0.37971	0.269000	0.21961	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	1	0	1	110	549	0	129	1	9.999723e-01	17	59	0	129	2		0	0	0	0	0	2	1	1	110	535	0	129	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACOT8	10005	broad.mit.edu	37	20	44472193	44472193	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472193G>T	ENST00000217455.4	-	5	904	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8			10		Myeloproliferative disorder(115;0.0122)			CATTCATAGAGCATCCAGTGG	0.602000																								0							SO:0001583	missense			ENST00000217455.4	0	0	hg19	CCDS13378.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795666	0.90453	.	.	ENSG00000101473	ENST00000217455	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.90789	0.7108	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94263	0.7504	9	0.87932	D	0	.	18.5723	0.91140	0.0:0.0:1.0:0.0	.	152;272	E9PRD4;O14734	.;ACOT8_HUMAN	I	272	.	ENSP00000217455:L272I	L	-	1	0	ACOT8	43905600	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.307000	0.78920	2.620000	0.88729	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	1	0	1	13	85	0	22	1	9.998972e-01	27	89	0	22	2		0	0	0	0	0	2	1	9.995800e-01	12	83	0	22	2								-19.994070	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.880000	1.000000	1.000000	0.993468	0.990000	1	9.900000e-01	1
ACOT8	10005	broad.mit.edu	37	20	44472353	44472353	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472353G>A	ENST00000217455.4	-	5	744	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8			10		Myeloproliferative disorder(115;0.0122)			TCTTCATGTCGCCCTCGCCTG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000217455.4	1	1	hg19	CCDS13378.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	1	0	0	50	222	0	46	1	1	43	117	0	46	2		0	0	0	0	0	2	1	1	50	219	0	46	2								-3.358941	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEURL2	140825	broad.mit.edu	37	20	44519145	44519145	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44519145G>A	ENST00000372518.4	-	1	781	c.486C>T	c.(484-486)cgC>cgT	p.R162R	CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000372459.2_5'Flank|SPATA25_ENST00000372519.3_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2			3		Myeloproliferative disorder(115;0.0122)			CTGGCCGGCTGCGGCCCACCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000372518.4	1	1	hg19	CCDS13384.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2	0	0	1	96	418	0	85	0	2.380625e-01	1	4	0	85	2		0	0	0	0	0	2	1	1	96	409	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTSA	5476	broad.mit.edu	37	20	44521862	44521862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44521862C>T	ENST00000372459.2	+	6	797	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372484.3_Silent_p.L220L|CTSA_ENST00000354880.5_Silent_p.L203L|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_Silent_p.L202L			P10619	PPGB_HUMAN	cathepsin A			21		Myeloproliferative disorder(115;0.0122)			TTCACAGGGGCTGGCTGTGGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000372459.2	1	1	hg19	CCDS46609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	1	0	1	45	227	0	58	1	1	356	956	0	58	2		0	0	0	0	0	2	1	1	45	223	0	58	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLTP	5360	broad.mit.edu	37	20	44528125	44528125	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44528125C>T	ENST00000477313.1	-	14	1929	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	PLTP_ENST00000542937.1_Silent_p.V465V|PLTP_ENST00000372431.3_Silent_p.V445V|PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000372420.1_Silent_p.V357V			P55058	PLTP_HUMAN	phospholipid transfer protein			21		Myeloproliferative disorder(115;0.0122)			CCACCTCATGCACAAAGTTGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000477313.1	1	1	hg19	CCDS13386.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	1	0	1	70	346	0	77	1	1	22	609	0	77	2		0	0	0	0	0	2	1	1	70	341	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCIF1	63935	broad.mit.edu	37	20	44574362	44574362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44574362C>T	ENST00000372409.3	+	12	1545	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1			20					GAGGTGGAGGCCCCTGAGGTG	0.627000																								0							SO:0001583	missense			ENST00000372409.3	1	1	hg19	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846816	0.32606	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.232564	0.43579	D	0.000542	T	0.24586	0.0596	N	0.02539	-0.55	0.39209	D	0.963286	B	0.02656	0.0	B	0.04013	0.001	T	0.20472	-1.0274	9	0.15952	T	0.53	-15.6623	10.6663	0.45732	0.0:0.9124:0.0:0.0876	.	394	Q9H4Z3	PCIF1_HUMAN	V	394	.	ENSP00000361486:A394V	A	+	2	0	PCIF1	44007769	0.976000	0.34144	0.999000	0.59377	0.847000	0.48162	2.471000	0.45127	2.615000	0.88500	0.558000	0.71614	GCC		TCGA-IB-7651-01A-11D-2154-08	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	1	0	1	46	247	0	67	1	9.999993e-01	25	92	0	67	2		0	0	0	0	0	2	1	1	46	241	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF335	63925	broad.mit.edu	37	20	44582471	44582471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44582471G>A	ENST00000322927.2	-	18	2659	c.2559C>T	c.(2557-2559)ggC>ggT	p.G853G	ZNF335_ENST00000426788.1_Silent_p.G698G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335			51		Myeloproliferative disorder(115;0.0122)			CTGCTGCACCGCCCCCTGGCT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000322927.2	1	1	hg19	CCDS13389.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	1	38	151	0	54	1	9.939015e-01	13	22	0	54	2		0	0	0	0	0	2	1	1	37	150	0	54	2								-3.261192	1	1	121412	5	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF335	63925	broad.mit.edu	37	20	44588995	44588995	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44588995C>A	ENST00000322927.2	-	14	1972	c.1872G>T	c.(1870-1872)gaG>gaT	p.E624D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335			51		Myeloproliferative disorder(115;0.0122)			ACTCACAGAACTCACACTTGA	0.552000																								0							SO:0001583	missense			ENST00000322927.2	1	1	hg19	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254580	0.39896	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.27720	1.65;1.65	5.37	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.24115	0.695	0.51482	D	0.999921	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.06023	-1.0850	10	0.24483	T	0.36	-27.9562	11.7575	0.51884	0.0:0.8556:0.0:0.1444	.	469;624	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	624;401;469	ENSP00000325326:E624D;ENSP00000397098:E469D	ENSP00000243961:E401D	E	-	3	2	ZNF335	44022402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.980000	0.29513	1.511000	0.48818	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	1	34	210	0	65	1	9.436935e-01	13	19	0	65	2		0	0	0	0	0	2	1	1	35	208	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999880	0.990000	1	9.900000e-01	1
ZNF335	63925	broad.mit.edu	37	20	44592534	44592534	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44592534G>T	ENST00000322927.2	-	8	1298	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335			51		Myeloproliferative disorder(115;0.0122)			ATGGCCACCAGGTGTCCTGGG	0.637000																								0							SO:0001583	missense			ENST00000322927.2	1	1	hg19	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902203	0.17760	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09445	3.12;2.98	4.43	2.4	0.29515	.	0.911529	0.09339	N	0.815734	T	0.10551	0.0258	N	0.19112	0.55	0.09310	N	1	P;P	0.41848	0.763;0.651	P;B	0.47528	0.549;0.241	T	0.34502	-0.9826	10	0.35671	T	0.21	-2.7554	7.4038	0.26979	0.2087:0.0:0.7913:0.0	.	245;400	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	M	400;177;245	ENSP00000325326:L400M;ENSP00000397098:L245M	ENSP00000243961:L177M	L	-	1	2	ZNF335	44025941	0.001000	0.12720	0.047000	0.18901	0.374000	0.29953	0.760000	0.26475	1.077000	0.40990	0.555000	0.69702	CTG		TCGA-IB-7651-01A-11D-2154-08	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	1	32	287	0	52	1	8.644832e-01	8	26	0	52	2		0	0	0	0	0	2	1	1	32	286	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.830000	1.000000	1.000000	0.986827	0.990000	1	9.900000e-01	1
ZNF335	63925	broad.mit.edu	37	20	44599953	44599953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44599953C>A	ENST00000322927.2	-	2	197	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335			51		Myeloproliferative disorder(115;0.0122)			GACACGGCTTCTGAGGTGCCC	0.731000																								0							SO:0001587	stop_gained			ENST00000322927.2	0	1	hg19	CCDS13389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.966576|6.966576	0.97967|0.97967	.|.	.|.	ENSG00000198026|ENSG00000198026	ENST00000243961|ENST00000322927	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.52906	.|T	.|0.07	.|-15.8841	15.5037|15.5037	0.75722|0.75722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|ENSP00000325326:E33X	.|E	-|-	.|1	.|0	ZNF335|ZNF335	44033360|44033360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.545000|6.545000	0.73883|0.73883	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	.|GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	0	21	81	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.999987e-01	21	79	0	10	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
MMP9	4318	broad.mit.edu	37	20	44644913	44644913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44644913G>A	ENST00000372330.3	+	13	2049	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)			46		Myeloproliferative disorder(115;0.0122)		Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TGCCAGGACCGCTTCTACTGG	0.522000																								0							SO:0001583	missense			ENST00000372330.3	1	1	hg19	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829338	0.71258	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.03035	4.07	4.59	0.258	0.15578	Hemopexin/matrixin (2);	0.810139	0.11279	N	0.580598	T	0.03305	0.0096	L	0.35723	1.085	0.34728	D	0.729424	P	0.51147	0.942	B	0.42112	0.376	T	0.54344	-0.8308	10	0.42905	T	0.14	.	4.3195	0.11009	0.2953:0.0:0.5408:0.1639	.	677	P14780	MMP9_HUMAN	H	677;247	ENSP00000361405:R677H	ENSP00000361405:R677H	R	+	2	0	MMP9	44078320	0.859000	0.29813	0.981000	0.43875	0.972000	0.66771	1.385000	0.34408	0.535000	0.28714	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1	1	0	0	18	352	0	78	0	9.747150e-01	0	120	0	78	2		0	0	0	0	0	2	1	9.999807e-01	18	346	0	78	2								-3.018744	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.590000	0.350000	1.000000	0.570000	0.614960	0.590000	0	4.600000e-01	7.600000e-01
SLC12A5	57468	broad.mit.edu	37	20	44669988	44669988	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44669988G>A	ENST00000454036.2	+	8	993	c.944G>A	c.(943-945)cGc>cAc	p.R315H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R292H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5			80		Myeloproliferative disorder(115;0.0122)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGTAACCGCACGCTGTCT	0.582000																								0							SO:0001583	missense			ENST00000454036.2	1	1	hg19	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188788	0.94923	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.69306	-0.39;-0.39	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.76328	2.33	0.80722	D	1	D;D	0.59357	0.985;0.968	P;B	0.49561	0.615;0.429	T	0.73902	-0.3836	10	0.33141	T	0.24	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	315;292	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	315;292	ENSP00000387694:R315H;ENSP00000243964:R292H	ENSP00000243964:R292H	R	+	2	0	SLC12A5	44103395	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.457000	0.83068	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	1	0	1	57	268	0	50		0	0	0	0	50	2		0	0	0	0	1	2	1	1	55	260	0	50	2								-2.946305	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A5	57468	broad.mit.edu	37	20	44671804	44671804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671804G>A	ENST00000454036.2	+	9	1197	c.1148G>A	c.(1147-1149)aGc>aAc	p.S383N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S360N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5			80		Myeloproliferative disorder(115;0.0122)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACCTCTGGAGCTCCTACCTG	0.602000																								0							SO:0001583	missense			ENST00000454036.2	0	1	hg19	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806764	0.50421	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.68624	-0.34;-0.34	4.47	4.47	0.54385	.	0.052501	0.85682	D	0.000000	T	0.64461	0.2600	M	0.73430	2.235	0.80722	D	1	B;B	0.30727	0.118;0.292	B;B	0.33750	0.072;0.169	T	0.59658	-0.7413	10	0.13470	T	0.59	.	12.5309	0.56115	0.0:0.1678:0.8322:0.0	.	383;360	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	383;360	ENSP00000387694:S383N;ENSP00000243964:S360N	ENSP00000243964:S360N	S	+	2	0	SLC12A5	44105211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.158000	0.71851	2.470000	0.83445	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	0	0	0	16	1081	0	236		0	0	0	0	236	2		0	0	0	0	0	2	1	9.999150e-01	16	1053	0	233	2								-3.143021	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.170000	0.100000	1.000000	0.170000	0.220534	0.170000	0	1.300000e-01	2.400000e-01
SLC12A5	57468	broad.mit.edu	37	20	44671916	44671916	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671916C>A	ENST00000454036.2	+	9	1309	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	SLC12A5_ENST00000243964.3_Silent_p.T397T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5			80		Myeloproliferative disorder(115;0.0122)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGATATGACCTCCTACTTCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000454036.2	1	1	hg19	CCDS46610.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	1	0	1	232	1152	0	269		0	0	0	0	269	2		0	0	0	0	0	2	1	1	226	1133	0	267	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A5	57468	broad.mit.edu	37	20	44680390	44680390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44680390G>A	ENST00000454036.2	+	18	2376	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G753D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5			80		Myeloproliferative disorder(115;0.0122)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGCGTGATGGCGTGTCCCAT	0.607000																								0							SO:0001583	missense			ENST00000454036.2	1	1	hg19	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340323	0.81911	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.97186	-4.28;-4.28	4.19	4.19	0.49359	.	0.136206	0.50627	D	0.000118	D	0.98406	0.9470	M	0.87180	2.865	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.68192	0.956;0.926	D	0.99201	1.0873	10	0.66056	D	0.02	.	16.0375	0.80640	0.0:0.0:1.0:0.0	.	776;753	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	776;753	ENSP00000387694:G776D;ENSP00000243964:G753D	ENSP00000243964:G753D	G	+	2	0	SLC12A5	44113797	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.978000	0.63799	2.302000	0.77476	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	0	0	0	22	555	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	9.999986e-01	22	547	0	99	2								-4.288032	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.460000	0.290000	1.000000	0.450000	0.490953	0.460000	0	3.600000e-01	5.800000e-01
NCOA5	57727	broad.mit.edu	37	20	44691163	44691163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44691163G>T	ENST00000290231.6	-	8	1680	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5			21		Myeloproliferative disorder(115;0.0122)			AAAAGCCCTTGGGAAGGAGCC	0.552000																								0							SO:0001583	missense			ENST00000290231.6	1	1	hg19	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765540	0.31228	.	.	ENSG00000124160	ENST00000290231	T	0.50548	0.74	5.54	4.59	0.56863	.	0.457422	0.24983	N	0.034056	T	0.42653	0.1212	L	0.34521	1.04	0.45914	D	0.998751	D	0.54964	0.969	P	0.49361	0.608	T	0.23048	-1.0199	10	0.07325	T	0.83	-0.4782	15.7475	0.77958	0.0:0.1365:0.8635:0.0	.	506	Q9HCD5	NCOA5_HUMAN	K	506	ENSP00000290231:Q506K	ENSP00000290231:Q506K	Q	-	1	0	NCOA5	44124570	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.646000	0.74348	1.567000	0.49668	-0.165000	0.13383	CAA		TCGA-IB-7651-01A-11D-2154-08	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	0	0	0	11	341	0	57	1	7.543641e-01	2	83	0	57	2		0	0	0	0	0	2	1	9.981487e-01	11	332	0	57	2								-3.122313	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.380000	0.200000	1.000000	0.370000	0.423846	0.380000	0	2.800000e-01	5.300000e-01
NCOA5	57727	broad.mit.edu	37	20	44692047	44692047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44692047G>A	ENST00000290231.6	-	7	1266	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5			21		Myeloproliferative disorder(115;0.0122)			TTCCGCTCTCGCAGGTAGTTG	0.577000																								0							SO:0001587	stop_gained			ENST00000290231.6	0	1	hg19	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534672	0.96460	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.41	5.41	0.78517	.	0.102256	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.982	13.8224	0.63331	0.0:0.0:0.8372:0.1628	.	.	.	.	X	368	.	ENSP00000290231:R368X	R	-	1	2	NCOA5	44125454	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.055000	0.41345	2.816000	0.96949	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	1	0	0	10	255	0	48	0	6.659063e-01	0	58	0	48	2		0	0	0	0	0	2	1	9.967339e-01	10	250	0	47	2								-11.341940	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.460000	0.230000	1.000000	0.440000	0.502884	0.460000	0	3.300000e-01	6.500000e-01
NCOA5	57727	broad.mit.edu	37	20	44699120	44699120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44699120G>A	ENST00000290231.6	-	3	258	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	p.R32*(1)		21		Myeloproliferative disorder(115;0.0122)			GGACTTCCTCGAATTGGGGAT	0.532000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000290231.6	0	1	hg19	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998698	0.97189	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.39	5.39	0.77823	.	0.145205	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0361	18.3288	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000290231:R32X	R	-	1	2	NCOA5	44132527	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.473000	0.53122	2.801000	0.96364	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	1	0	1	139	576	0	127	1	9.987389e-01	2	41	0	127	2		0	0	0	0	0	2	1	1	136	570	0	125	2								-3.518014	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD40	958	broad.mit.edu	37	20	44756855	44756855	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44756855T>C	ENST00000372285.3	+	7	710	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CD40_ENST00000372276.3_Silent_p.G192G|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5			10		Myeloproliferative disorder(115;0.0122)			TTGGTGCTGGTCTTTATCAGT	0.542000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	ENST00000372285.3	1	1	hg19	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	T	6.980	0.550845	0.13374	.	.	ENSG00000101017	ENST00000372285	T	0.74737	-0.87	4.59	-1.44	0.08856	.	2587.460000	0.00166	N	0.000001	T	0.52468	0.1736	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29579	-1.0007	9	0.18276	T	0.48	-0.4864	1.3084	0.02092	0.164:0.15:0.1661:0.5199	.	213	P25942	TNR5_HUMAN	A	213	ENSP00000361359:V213A	ENSP00000361359:V213A	V	+	2	0	CD40	44190262	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-0.453000	0.06778	0.064000	0.16427	0.402000	0.26972	GTC		TCGA-IB-7651-01A-11D-2154-08	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	0	0	0	16	523	0	75	1	9.576123e-01	13	162	0	75	2		0	0	0	0	0	2	1	9.998931e-01	14	494	0	74	2								-3.184454	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.360000	0.210000	1.000000	0.350000	0.397976	0.360000	0	2.700000e-01	4.700000e-01
CDH22	64405	broad.mit.edu	37	20	44803650	44803650	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44803650T>C	ENST00000372262.3	-	11	2382	c.1982A>G	c.(1981-1983)gAa>gGa	p.E661G	CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2			44		Myeloproliferative disorder(115;0.0122)			CCGCATGTCTTCATCCTCGTC	0.627000																								0							SO:0001583	missense			ENST00000372262.3	1	1	hg19	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132480	0.77662	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.79352	-1.26;-1.26	4.03	4.03	0.46877	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.71296	2.17	0.44261	D	0.997118	D	0.89917	1.0	D	0.91635	0.999	D	0.87302	0.2306	10	0.87932	D	0	.	11.9296	0.52839	0.0:0.0:0.0:1.0	.	661	Q9UJ99	CAD22_HUMAN	G	661	ENSP00000361336:E661G;ENSP00000437790:E661G	ENSP00000361336:E661G	E	-	2	0	CDH22	44237057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.020000	0.57189	1.691000	0.51100	0.460000	0.39030	GAA		TCGA-IB-7651-01A-11D-2154-08	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	1	50	268	0	56	0	1.230418e-01	0	4	0	56	2		0	0	0	0	0	2	1	1	49	263	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CDH22	64405	broad.mit.edu	37	20	44815312	44815312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815312G>A	ENST00000372262.3	-	9	1978	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CDH22_ENST00000537909.1_Silent_p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2			44		Myeloproliferative disorder(115;0.0122)			CTTGGGGCTCGTCTCTGTCCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000372262.3	1	1	hg19	CCDS13395.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	1	67	236	0	59	0	4.004377e-01	0	6	0	59	2		0	0	0	0	0	2	1	1	66	228	0	58	2								-20.000000	1	0	121412	7	38	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH22	64405	broad.mit.edu	37	20	44815474	44815474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815474C>T	ENST00000372262.3	-	8	1936	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	CDH22_ENST00000537909.1_Silent_p.K512K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2			44		Myeloproliferative disorder(115;0.0122)			CCTGGCCTGGCTTGGCATCCT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000372262.3	1	1	hg19	CCDS13395.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	0	31	668	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1	31	661	0	112	2								-5.001744	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.530000	0.360000	1.000000	0.520000	0.557916	0.530000	0	4.400000e-01	6.500000e-01
CDH22	64405	broad.mit.edu	37	20	44828116	44828116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44828116G>T	ENST00000372262.3	-	7	1769	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	CDH22_ENST00000537909.1_Missense_Mutation_p.L457M	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2			44		Myeloproliferative disorder(115;0.0122)			TCGCGGTCCAGCCCCTTGCCA	0.652000																								0							SO:0001583	missense			ENST00000372262.3	0	1	hg19	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659496	0.47467	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.74842	-0.88;-0.88	4.47	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.89476	0.6726	H	0.94264	3.515	0.49130	D	0.999754	D	0.89917	1.0	D	0.97110	1.0	D	0.92205	0.5771	10	0.87932	D	0	.	14.8113	0.69996	0.0:0.0:1.0:0.0	.	457	Q9UJ99	CAD22_HUMAN	M	457	ENSP00000361336:L457M;ENSP00000437790:L457M	ENSP00000361336:L457M	L	-	1	2	CDH22	44261523	0.992000	0.36948	0.998000	0.56505	0.060000	0.15804	2.029000	0.41098	2.471000	0.83476	0.555000	0.69702	CTG		TCGA-IB-7651-01A-11D-2154-08	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	0	0	0	5	131	0	22	0	2.189553e-03	0	2	0	22	2		0	0	0	0	0	2	1	9.324150e-01	5	126	0	22	2								-7.940484	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.470000	0.180000	1.000000	0.430000	0.518259	0.470000	0	3.000000e-01	7.300000e-01
CDH22	64405	broad.mit.edu	37	20	44845469	44845469	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44845469C>T	ENST00000372262.3	-	4	1234	c.834G>A	c.(832-834)ccG>ccA	p.P278P	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.P278P	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2			44		Myeloproliferative disorder(115;0.0122)			ACTCACTCTGCGGGAAACGGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000372262.3	1	1	hg19	CCDS13395.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	1	81	391	0	111	0	5.353263e-01	1	9	0	111	2		0	0	0	0	0	2	1	1	78	383	0	106	2								-20.000000	1	0	121412	9	41	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELMO2	63916	broad.mit.edu	37	20	45022235	45022235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45022235G>A	ENST00000290246.6	-	5	319	c.125C>T	c.(124-126)tCg>tTg	p.S42L	ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2			16		Myeloproliferative disorder(115;0.0122)			GTTTGGCAACGACCACCTATG	0.453000																								0							SO:0001583	missense			ENST00000290246.6	1	1	hg19	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154087	0.57259	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.24908	2.43;2.43;2.43;2.43;1.83	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	M	0.71581	2.175	0.80722	D	1	P;P	0.42757	0.667;0.789	B;B	0.32928	0.107;0.155	T	0.36553	-0.9743	10	0.72032	D	0.01	-9.6865	16.5031	0.84262	0.0:0.0:1.0:0.0	.	42;42	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	L	42	ENSP00000290246:S42L;ENSP00000379673:S42L;ENSP00000396519:S42L;ENSP00000326172:S42L;ENSP00000416181:S42L	ENSP00000290246:S42L	S	-	2	0	ELMO2	44455642	1.000000	0.71417	0.950000	0.38849	0.916000	0.54674	5.952000	0.70282	2.375000	0.81037	0.491000	0.48974	TCG		TCGA-IB-7651-01A-11D-2154-08	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	1	0	1	162	724	0	180	1	9.999613e-01	17	49	0	180	2		0	0	0	0	0	2	1	1	159	711	0	177	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF334	55713	broad.mit.edu	37	20	45131661	45131661	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45131661T>G	ENST00000347606.4	-	5	499	c.317A>C	c.(316-318)aAa>aCa	p.K106T	ZNF334_ENST00000457685.2_Missense_Mutation_p.K68T|ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334			32		Myeloproliferative disorder(115;0.0122)			AATCAGTGTTTTGTTGCTGAA	0.353000																								0							SO:0001583	missense			ENST00000347606.4	1	1	hg19	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178949	0.38511	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.10288	3.12;2.89	3.26	-2.47	0.06442	.	.	.	.	.	T	0.09113	0.0225	L	0.52905	1.665	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.34477	-0.9827	9	0.35671	T	0.21	.	4.577	0.12238	0.0:0.309:0.163:0.528	.	68;106;129	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	T	68;106	ENSP00000402582:K68T;ENSP00000255129:K106T	ENSP00000255129:K106T	K	-	2	0	ZNF334	44565068	0.001000	0.12720	0.000000	0.03702	0.780000	0.44128	-0.017000	0.12590	-0.707000	0.05022	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1	1	0	1	38	172	0	43	0	2.297411e-01	0	5	0	43	2		0	0	0	0	0	2	1	1	38	165	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC13A3	64849	broad.mit.edu	37	20	45188796	45188796	+	Silent	SNP	C	C	T	rs141947019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45188796C>T	ENST00000279027.4	-	13	1692	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000495082.1_Silent_p.L511L|SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000290317.5_Silent_p.L511L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3			31		Myeloproliferative disorder(115;0.0122)		Succinic acid(DB00139)	CCAAACTGAGCAGCAGGACAC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000279027.4	1	1	hg19	CCDS13400.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2	1	0	1	96	550	0	156	1	2.821267e-01	5	2	0	156	2		0	0	0	0	0	2	1	1	95	534	0	156	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC13A3	64849	broad.mit.edu	37	20	45192140	45192140	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45192140G>A	ENST00000279027.4	-	12	1563	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000495082.1_Silent_p.V468V|SLC13A3_ENST00000472148.1_Silent_p.V433V|SLC13A3_ENST00000290317.5_Silent_p.V468V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3			31		Myeloproliferative disorder(115;0.0122)		Succinic acid(DB00139)	AGGAGCAGCCGACTGTGCCCG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000279027.4	1	1	hg19	CCDS13400.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2	1	0	1	35	137	0	31	0	2.778895e-01	0	5	0	31	2		0	0	0	0	0	2	1	1	34	132	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC13A3	64849	broad.mit.edu	37	20	45217805	45217805	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45217805G>T	ENST00000279027.4	-	7	1028	c.1010C>A	c.(1009-1011)cCc>cAc	p.P337H	SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P290H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3			31		Myeloproliferative disorder(115;0.0122)		Succinic acid(DB00139)	ATACTTGATGGGCCCCAGGTT	0.527000																								0							SO:0001583	missense			ENST00000279027.4	0	1	hg19	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566279	0.27915	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	T;T;T;T;T;T;T;T;T	0.13307	3.59;3.59;3.59;3.59;3.59;3.59;3.59;2.62;2.6	5.84	4.88	0.63580	.	0.091159	0.85682	N	0.000000	T	0.28566	0.0707	M	0.86502	2.82	0.80722	D	1	B;B;B;B	0.27351	0.014;0.006;0.122;0.176	B;B;B;B	0.35413	0.119;0.028;0.125;0.202	T	0.11842	-1.0571	10	0.87932	D	0	-30.0427	14.7177	0.69284	0.0:0.0:0.855:0.145	.	287;290;290;337	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	H	290;290;337;290;287;290;290;250;287	ENSP00000290317:P290H;ENSP00000379648:P290H;ENSP00000279027:P337H;ENSP00000420177:P290H;ENSP00000415852:P287H;ENSP00000419621:P290H;ENSP00000417784:P290H;ENSP00000395095:P250H;ENSP00000361193:P287H	ENSP00000279027:P337H	P	-	2	0	SLC13A3	44651212	1.000000	0.71417	0.946000	0.38457	0.189000	0.23516	5.637000	0.67854	1.457000	0.47850	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2	0	0	0	11	504	0	83	0	8.129205e-03	0	6	0	83	2		0	0	0	0	0	2	1	9.981754e-01	11	494	0	83	2								-2.600997	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.260000	0.130000	1.000000	0.250000	0.306135	0.260000	0	1.900000e-01	3.700000e-01
SLC2A10	81031	broad.mit.edu	37	20	45353838	45353838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45353838C>T	ENST00000359271.2	+	2	413	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10			34		Myeloproliferative disorder(115;0.0122)			GGGCAGCCTGCTCCTGGGGGC	0.592000																								0							SO:0001583	missense			ENST00000359271.2	1	1	hg19	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618810	0.46736	.	.	ENSG00000197496	ENST00000359271	T	0.74737	-0.87	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000003	D	0.85831	0.5788	M	0.85197	2.74	0.47905	D	0.999547	D	0.89917	1.0	D	0.91635	0.999	D	0.87111	0.2185	10	0.59425	D	0.04	.	10.9873	0.47528	0.0:0.9123:0.0:0.0877	.	55	O95528	GTR10_HUMAN	F	55	ENSP00000352216:L55F	ENSP00000352216:L55F	L	+	1	0	SLC2A10	44787245	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	2.494000	0.45329	2.160000	0.67779	0.407000	0.27541	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2	1	0	1	53	236	0	63	0	9.545124e-01	1	24	0	63	2		0	0	0	0	0	2	1	1	51	229	0	63	2								-20.000000	1	1	121412	4	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC2A10	81031	broad.mit.edu	37	20	45354819	45354819	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45354819G>A	ENST00000359271.2	+	2	1394	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10			34		Myeloproliferative disorder(115;0.0122)			CAGATCTGGAGACCCCTCAGC	0.637000																								0							SO:0001583	missense			ENST00000359271.2	1	1	hg19	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495024	0.12702	.	.	ENSG00000197496	ENST00000359271	D	0.81499	-1.5	5.75	-0.0688	0.13754	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.765990	0.01175	N	0.006943	T	0.65112	0.2660	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52335	-0.8589	10	0.16896	T	0.51	5.2667	11.1698	0.48565	0.4681:0.0:0.5319:0.0	.	382	O95528	GTR10_HUMAN	N	382	ENSP00000352216:D382N	ENSP00000352216:D382N	D	+	1	0	SLC2A10	44788226	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.638000	0.24674	0.099000	0.17552	-0.126000	0.14955	GAC		TCGA-IB-7651-01A-11D-2154-08	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2	1	0	1	44	290	0	66	1	9.794120e-01	7	36	0	66	2		0	0	0	0	0	2	1	1	42	285	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999915	0.990000	1	9.900000e-01	1
EYA2	2139	broad.mit.edu	37	20	45633697	45633697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45633697C>T	ENST00000327619.5	+	4	646	c.272C>T	c.(271-273)gCa>gTa	p.A91V	EYA2_ENST00000317304.6_Missense_Mutation_p.A91V|EYA2_ENST00000357410.3_Missense_Mutation_p.A91V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2			32		Myeloproliferative disorder(115;0.0241)			CCACCTCCAGCACAAGCCTAT	0.552000													Pancreas(120;56 1725 18501 25218 43520)											0							SO:0001583	missense			ENST00000327619.5	1	1	hg19	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317035	0.81469	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91894	-2.93;-2.53;-2.85;-0.74	5.53	4.59	0.56863	.	0.130472	0.56097	D	0.000026	D	0.92234	0.7537	L	0.56769	1.78	0.46298	D	0.998979	D;P;P;P	0.54964	0.969;0.787;0.825;0.825	P;B;B;B	0.54210	0.745;0.23;0.313;0.294	D	0.91621	0.5311	10	0.62326	D	0.03	-18.7495	8.2618	0.31790	0.0:0.6532:0.2645:0.0823	.	91;91;91;91	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	V	91;91;91;91;44	ENSP00000333640:A91V;ENSP00000349986:A91V;ENSP00000321590:A91V;ENSP00000395427:A44V	ENSP00000321590:A91V	A	+	2	0	EYA2	45067104	1.000000	0.71417	0.924000	0.36721	0.960000	0.62799	3.109000	0.50345	1.344000	0.45657	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	1	0	1	46	271	0	64	0	5.423136e-01	0	12	0	64	2		0	0	0	0	0	2	1	1	45	264	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
EYA2	2139	broad.mit.edu	37	20	45725724	45725724	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45725724C>T	ENST00000327619.5	+	9	1179	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	EYA2_ENST00000317304.6_Splice_Site_p.R269C|EYA2_ENST00000357410.3_Splice_Site_p.R269C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2			32		Myeloproliferative disorder(115;0.0241)			TTCATCACAGCGTGTGTTCGT	0.423000													Pancreas(120;56 1725 18501 25218 43520)											0							SO:0001630	splice_region_variant			ENST00000327619.5	0	1	hg19	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403005	0.83230	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.67	5.67	0.87782	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.92766	0.6228	9	.	.	.	-3.3947	19.773	0.96379	0.0:1.0:0.0:0.0	.	269;269;269;269	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	269;269;269;269;140	ENSP00000333640:R269C;ENSP00000349986:R269C;ENSP00000321590:R269C;ENSP00000395427:R140C	.	R	+	1	0	EYA2	45159131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.295000	0.65692	2.677000	0.91161	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	0	0	0	12	698	0	130	0	7.018863e-03	0	7	0	130	2		0	0	0	0	0	2	1	9.989533e-01	12	678	0	129	2								-2.567708	1	1	121412	1	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.200000	0.100000	1.000000	0.200000	0.251355	0.200000	0	1.500000e-01	2.900000e-01
EYA2	2139	broad.mit.edu	37	20	45801458	45801458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45801458G>A	ENST00000327619.5	+	12	1515	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	EYA2_ENST00000317304.6_Missense_Mutation_p.A351T|EYA2_ENST00000357410.3_Missense_Mutation_p.A381T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2			32		Myeloproliferative disorder(115;0.0241)			GAGGAAGCTGGCCTTCCGCTA	0.592000													Pancreas(120;56 1725 18501 25218 43520)											0							SO:0001583	missense			ENST00000327619.5	1	1	hg19	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719770	0.96839	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.82433	-1.61;-1.61;-1.61	5.59	5.59	0.84812	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.998;0.997	D	0.94016	0.7288	10	0.87932	D	0	-13.2396	19.5758	0.95444	0.0:0.0:1.0:0.0	.	381;351;381;381	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	381;381;351;351	ENSP00000333640:A381T;ENSP00000349986:A381T;ENSP00000321590:A351T	ENSP00000321590:A351T	A	+	1	0	EYA2	45234865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.755000	0.98912	2.632000	0.89209	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	1	0	1	94	466	0	94	0	4.642277e-01	0	9	0	94	2		0	0	0	0	0	2	1	1	85	415	0	80	2								-2.331535	0	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMYND8	23613	broad.mit.edu	37	20	45849995	45849995	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45849995C>T	ENST00000311275.7	-	20	3580	c.3327G>A	c.(3325-3327)acG>acA	p.T1109T	ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000446994.2_Silent_p.T1000T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000536340.1_Silent_p.T1136T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000396281.4_Silent_p.T1109T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8			62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		TCTCAGCTGACGTCTCCTTCT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000311275.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214812	0.01555	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.08576	-1.0715	4	.	.	.	-5.7982	1.1673	0.01818	0.1808:0.2182:0.1965:0.4045	.	.	.	.	I	991	.	.	V	-	1	0	ZMYND8	45283402	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.175000	0.00571	-2.813000	0.00347	-2.259000	0.00280	GTC		TCGA-IB-7651-01A-11D-2154-08	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	1	0	1	72	313	0	94	1	1	37	81	0	94	2		0	0	0	0	0	2	1	1	65	290	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMYND8	23613	broad.mit.edu	37	20	45856021	45856021	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45856021G>A	ENST00000311275.7	-	18	3134	c.2881C>T	c.(2881-2883)Cgc>Tgc	p.R961C	ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8			62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		CTCAGCCTGCGAATCTGGAAG	0.537000																								0							SO:0001583	missense			ENST00000311275.7	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940096|2.940096	0.52972|0.52972	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.75154|.	0.49;0.49;0.49;-0.91;-0.91;0.49;0.49;0.49;0.49;0.49;0.49;0.36;0.49|.	5.53|5.53	3.6|3.6	0.41247|0.41247	.|.	0.120930|.	0.56097|.	N|.	0.000026|.	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.74258|0.74258	2.255|2.255	0.47123|0.47123	D|D	0.999324|0.999324	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.022;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0|.	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.003;0.999;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.991;0.994;0.997;0.999|.	T|T	0.69859|0.69859	-0.5031|-0.5031	10|5	0.66056|.	D|.	0.02|.	-6.074|-6.074	11.9774|11.9774	0.53100|0.53100	0.1399:0.0:0.8601:0.0|0.1399:0.0:0.8601:0.0	.|.	829;988;883;890;981;915;910;935;935;961;852;910;909;854;863;961|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	C|L	910;961;829;916;982;935;961;988;961;852;935;883;909|842	ENSP00000354166:R910C;ENSP00000312237:R961C;ENSP00000392964:R829C;ENSP00000262975:R916C;ENSP00000420095:R982C;ENSP00000335537:R935C;ENSP00000379577:R961C;ENSP00000439800:R988C;ENSP00000348246:R961C;ENSP00000396725:R852C;ENSP00000418210:R935C;ENSP00000361093:R883C;ENSP00000443086:R909C|.	ENSP00000262975:R916C|.	R|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45289428|45289428	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.698000|0.698000	0.40448|0.40448	3.652000|3.652000	0.54439|0.54439	0.714000|0.714000	0.32081|0.32081	-0.237000|-0.237000	0.12165|0.12165	CGC|TCG		TCGA-IB-7651-01A-11D-2154-08	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	1	0	1	60	334	0	77	1	9.999936e-01	34	65	0	77	2		0	0	0	0	0	2	1	1	59	325	0	76	2								-3.079425	1	1	121412	1	28	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMYND8	23613	broad.mit.edu	37	20	45867626	45867626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45867626C>T	ENST00000311275.7	-	15	2734	c.2481G>A	c.(2479-2481)acG>acA	p.T827T	ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000471951.2_Silent_p.T847T|ZMYND8_ENST00000536340.1_Silent_p.T854T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000540497.1_Silent_p.T775T|ZMYND8_ENST00000355972.4_Silent_p.T827T|ZMYND8_ENST00000396281.4_Silent_p.T827T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8			62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		TTTGGGAGGACGTTTGAAACT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000311275.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	0	0	1	107	538	0	122	1	9.569769e-01	2	26	0	122	2		0	0	0	0	0	2	1	1	105	529	0	120	2								-20.000000	1	1	121280	11	44	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMYND8	23613	broad.mit.edu	37	20	45874915	45874915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45874915C>A	ENST00000311275.7	-	14	2314	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N	ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	p.K707N(1)		62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		TCAGTTTATCCTTTATGGGGT	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000311275.7	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.358130|2.358130	0.41801|0.41801	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.91|5.91	2.53|2.53	0.30540|0.30540	.|.	.|0.227351	.|0.44097	.|D	.|0.000491	.|T	.|0.54598	.|0.1868	M|M	0.69823|0.69823	2.125|2.125	0.40769|0.40769	D|D	0.98307|0.98307	.|P;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.47302	.|0.893;0.609;0.159;0.078;0.134;0.276;0.38;0.127;0.21;0.127;0.127;0.078;0.078;0.078;0.078;0.277;0.06;0.159	.|B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	.|0.46172	.|0.276;0.258;0.131;0.091;0.103;0.199;0.506;0.258;0.208;0.258;0.258;0.131;0.131;0.131;0.131;0.109;0.047;0.131	.|T	.|0.57106	.|-0.7868	.|10	.|0.34782	.|T	.|0.22	-17.7768|-17.7768	11.8262|11.8262	0.52269|0.52269	0.0:0.7249:0.0:0.2751|0.0:0.7249:0.0:0.2751	.|.	.|682;714;682;682;662;681;707;687;682;707;707;687;624;682;635;707;635;687	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	X|N	615|682;687;682;688;708;707;687;714;687;624;707;682;635	.|ENSP00000354166:K682N;ENSP00000312237:K687N;ENSP00000392964:K682N;ENSP00000335537:K707N;ENSP00000379577:K687N;ENSP00000439800:K714N;ENSP00000348246:K687N;ENSP00000396725:K624N;ENSP00000418210:K707N;ENSP00000361093:K682N;ENSP00000443086:K635N	.|ENSP00000262975:K688N	G|K	-|-	1|3	0|2	ZMYND8|ZMYND8	45308322|45308322	0.994000|0.994000	0.37717|0.37717	0.993000|0.993000	0.49108|0.49108	0.888000|0.888000	0.51559|0.51559	0.368000|0.368000	0.20399|0.20399	0.842000|0.842000	0.35045|0.35045	-0.137000|-0.137000	0.14449|0.14449	GGA|AAG		TCGA-IB-7651-01A-11D-2154-08	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	1	0	1	68	717	0	140	1	9.976942e-01	17	79	0	140	2		0	0	0	0	0	2	1	1	66	704	0	138	2								-2.879461	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.800000	1.000000	1.000000	0.968392	0.990000	1	9.100000e-01	1
NCOA3	8202	broad.mit.edu	37	20	46252654	46252654	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46252654G>T	ENST00000371998.3	+	4	274		c.e4-1		NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000372004.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3			52					TTTTCCCTTAGTCTTACCTGC	0.393000																								0							SO:0001630	splice_region_variant			ENST00000371998.3	1	1	hg19	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320843	0.23994	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCOA3	45686061	1.000000	0.71417	0.992000	0.48379	0.138000	0.21146	7.235000	0.78143	2.937000	0.99478	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	1	31	176	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	1	30	170	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999938	0.990000	1	9.900000e-01	1
NCOA3	8202	broad.mit.edu	37	20	46262300	46262300	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46262300A>T	ENST00000371998.3	+	9	1075	c.884A>T	c.(883-885)gAt>gTt	p.D295V	NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000372004.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3			52					GGCTTTGAAGATATAATCCGA	0.368000																								0							SO:0001583	missense			ENST00000371998.3	1	1	hg19	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522593	0.85600	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.997;0.997;0.998;0.997	D;D;D;D;D;D	0.97110	0.961;1.0;0.943;0.943;0.974;0.943	T	0.58891	-0.7556	10	0.87932	D	0	-28.1386	15.4236	0.75035	1.0:0.0:0.0:0.0	.	295;295;299;295;295;295	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	V	295;295;295;295;295;61	ENSP00000342123:D295V;ENSP00000361073:D295V;ENSP00000361066:D295V;ENSP00000361065:D295V	ENSP00000345671:D295V	D	+	2	0	NCOA3	45695707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.046000	0.60703	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	1	103	367	0	70	1	9.999990e-01	14	59	0	70	2		0	0	0	0	0	2	1	1	100	357	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA3	8202	broad.mit.edu	37	20	46264680	46264680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264680G>T	ENST00000371998.3	+	12	1741	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000372004.3_Missense_Mutation_p.S517I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3			52					GGGAACCACAGCTTTTCCAGC	0.453000																								0							SO:0001583	missense			ENST00000371998.3	1	1	hg19	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252255	0.39797	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.72	2.76	0.32466	.	0.239134	0.42821	D	0.000652	T	0.23014	0.0556	M	0.70275	2.135	0.37709	D	0.924494	P;P;P;B;P;P	0.40660	0.554;0.677;0.554;0.373;0.682;0.726	B;B;B;B;P;B	0.44860	0.273;0.299;0.273;0.273;0.462;0.342	T	0.05632	-1.0873	10	0.72032	D	0.01	-3.665	7.0434	0.25033	0.2174:0.1333:0.6494:0.0	.	517;527;521;517;517;517	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	I	517;527;517;517;527	ENSP00000342123:S527I;ENSP00000361073:S517I;ENSP00000361066:S517I;ENSP00000361065:S527I	ENSP00000345671:S517I	S	+	2	0	NCOA3	45698087	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.198000	0.32223	0.363000	0.24346	-0.150000	0.13652	AGC		TCGA-IB-7651-01A-11D-2154-08	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	1	75	356	0	57	1	9.999978e-01	15	76	0	57	2		0	0	0	0	0	2	1	1	74	347	0	57	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA3	8202	broad.mit.edu	37	20	46264735	46264735	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264735T>G	ENST00000371998.3	+	12	1796	c.1605T>G	c.(1603-1605)acT>acG	p.T535T	NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000372004.3_Silent_p.T535T|NCOA3_ENST00000341724.6_Silent_p.T545T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3			52					GTGTGGGGACTTCCCTTTTAT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000371998.3	1	1	hg19	CCDS13407.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	1	95	419	0	67	1	9.999301e-01	16	47	0	67	2		0	0	0	0	0	2	1	1	93	407	0	67	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA3	8202	broad.mit.edu	37	20	46277853	46277853	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46277853G>A	ENST00000371998.3	+	19	3842	c.3651G>A	c.(3649-3651)caG>caA	p.Q1217Q	NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000341724.6_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3			52					tgagctcccaggtgaggatga	0.507000																								0							SO:0001630	splice_region_variant			ENST00000371998.3	1	0	hg19	CCDS13407.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	1	0	0	32	177	0	55	0	9.912157e-01	1	43	0	55	2		0	0	0	0	0	2	1	1	32	173	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
SULF2	55959	broad.mit.edu	37	20	46365517	46365517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46365517C>T	ENST00000359930.4	-	3	1196	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Silent_p.S115S|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000484875.1_Silent_p.S115S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2			54					GCCAGGAGGGCGAGGAGCAGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000359930.4	1	1	hg19	CCDS13408.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	1	0	1	44	188	0	45	1	1	209	268	0	45	2		0	0	0	0	0	2	1	1	43	186	0	45	2								-3.520127	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRNP	5621	broad.mit.edu	37	20	4680520	4680520	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4680520C>T	ENST00000379440.4	+	2	941	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_ENST00000430350.2_Silent_p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein			14					TCACCCAGTACGAGAGGGAAT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000379440.4	1	1	hg19	CCDS13080.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	1	0	1	42	184	0	62	1	1	71	590	0	62	2		0	0	0	0	0	2	1	1	41	182	0	62	2								-20.000000	1	1	121412	17	42	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRND	23627	broad.mit.edu	37	20	4705663	4705663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4705663C>T	ENST00000305817.2	+	2	537	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)			13					CGCAGGACTTCGGGTCACCAT	0.597000																								0							SO:0001583	missense			ENST00000305817.2	1	1	hg19	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643659	0.29246	.	.	ENSG00000171864	ENST00000305817	D	0.89552	-2.53	4.7	1.64	0.23874	Prion/Doppel protein, beta-ribbon domain (1);	0.620637	0.13289	N	0.399160	D	0.82435	0.5036	L	0.49126	1.545	0.09310	N	1	B	0.26975	0.165	B	0.19946	0.027	T	0.71679	-0.4520	10	0.56958	D	0.05	-19.0496	4.3118	0.10974	0.1797:0.6246:0.0:0.1957	.	156	Q9UKY0	PRND_HUMAN	W	156	ENSP00000306900:R156W	ENSP00000306900:R156W	R	+	1	2	PRND	4653663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.451000	0.21779	0.141000	0.18875	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	1	0	0	18	254	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	9.999829e-01	18	251	0	38	2								-19.989540	1	1	121404	1	28	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.790000	0.490000	1.000000	1.000000	0.800538	0.790000	0	6.200000e-01	1
PREX1	57580	broad.mit.edu	37	20	47269916	47269916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47269916G>A	ENST00000371941.3	-	20	2351	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	PREX1_ENST00000396220.1_Missense_Mutation_p.R777W	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1			110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		TCTTCGCGCCGACTCCGGAAT	0.582000																								0							SO:0001583	missense			ENST00000371941.3	1	1	hg19	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709441	0.48517	2.27E-4	0.0	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38560	1.13;1.13	5.12	2.95	0.34219	PDZ/DHR/GLGF (1);	1.252740	0.06178	U	0.678964	T	0.49609	0.1567	L	0.42245	1.32	0.22142	N	0.999336	P;D	0.63046	0.918;0.992	B;P	0.52710	0.368;0.707	T	0.46735	-0.9170	10	0.87932	D	0	.	11.6856	0.51483	0.0:0.0:0.6956:0.3044	.	777;74	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	777	ENSP00000361009:R777W;ENSP00000379522:R777W	ENSP00000361009:R777W	R	-	1	2	PREX1	46703323	0.578000	0.26717	0.188000	0.23233	0.355000	0.29361	1.778000	0.38614	2.386000	0.81285	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1	131	622	0	171	0	9.999121e-01	0	65	0	171	2		0	0	0	0	0	2	1	1	128	602	0	167	2								-20.000000	1	1	121412	4	42	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PREX1	57580	broad.mit.edu	37	20	47274755	47274755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47274755C>T	ENST00000371941.3	-	17	1915	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_ENST00000396220.1_Silent_p.Q631Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1			110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		AGTCCTCCTCCTGGGGCAGGA	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000371941.3	1	1	hg19	CCDS13410.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1	350	1266	0	218	1	1	2	91	0	218	2		0	0	0	0	0	2	1	1	347	1246	0	215	2								-4.469934	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PREX1	57580	broad.mit.edu	37	20	47297832	47297832	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47297832T>G	ENST00000371941.3	-	11	1398	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T	PREX1_ENST00000396220.1_Missense_Mutation_p.K459T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1			110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		TTCTTCCGTCTTGCTGATTTC	0.542000																								0							SO:0001583	missense			ENST00000371941.3	1	1	hg19	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.788204	0.70337	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.11604	2.76;2.76	4.41	4.41	0.53225	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.233910	0.28349	U	0.015671	T	0.06096	0.0158	N	0.02658	-0.545	0.58432	D	0.999997	P	0.39131	0.661	B	0.42593	0.392	T	0.52741	-0.8535	10	0.30854	T	0.27	.	13.7239	0.62745	0.0:0.0:0.0:1.0	.	459	Q8TCU6	PREX1_HUMAN	T	459	ENSP00000361009:K459T;ENSP00000379522:K459T	ENSP00000361009:K459T	K	-	2	0	PREX1	46731239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.960000	0.87893	1.636000	0.50526	0.468000	0.43344	AAG		TCGA-IB-7651-01A-11D-2154-08	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1	212	1090	0	256	0	9.999947e-01	0	87	0	256	2		0	0	0	0	0	2	1	1	207	1068	0	255	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PREX1	57580	broad.mit.edu	37	20	47324875	47324875	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47324875T>C	ENST00000371941.3	-	6	728	c.706A>G	c.(706-708)Aac>Gac	p.N236D	PREX1_ENST00000396220.1_Missense_Mutation_p.N236D	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1			110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		TCATTGATGTTGGAGCAAACG	0.617000																								0							SO:0001583	missense			ENST00000371941.3	1	1	hg19	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	31	5.083529	0.94050	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62788	-0.0;-0.0	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000016	T	0.73536	0.3599	L	0.48935	1.535	0.58432	D	0.999999	D	0.69078	0.997	D	0.74348	0.983	T	0.74685	-0.3582	10	0.52906	T	0.07	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	236	Q8TCU6	PREX1_HUMAN	D	236	ENSP00000361009:N236D;ENSP00000379522:N236D	ENSP00000361009:N236D	N	-	1	0	PREX1	46758282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.939000	0.70179	2.147000	0.66899	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	0	0	0	42	1145	0	193	0	6.274208e-01	0	59	0	193	2		0	0	0	0	0	2	1	1	41	1119	0	191	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.420000	0.300000	1.000000	0.410000	0.452891	0.420000	0	3.500000e-01	5.000000e-01
PREX1	57580	broad.mit.edu	37	20	47361598	47361598	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47361598C>A	ENST00000371941.3	-	3	400	c.378G>T	c.(376-378)caG>caT	p.Q126H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q126H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1			110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		CATGCTGAGACTGCGGCTCCG	0.483000																								0							SO:0001583	missense			ENST00000371941.3	1	1	hg19	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984385	0.18889	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.63255	-0.03;-0.03	4.74	3.8	0.43715	Dbl homology (DH) domain (5);	0.000000	0.47093	U	0.000244	T	0.44180	0.1281	N	0.22421	0.69	0.50313	D	0.999863	B	0.14012	0.009	B	0.17979	0.02	T	0.29458	-1.0011	10	0.33141	T	0.24	.	7.7548	0.28917	0.0:0.7448:0.0:0.2552	.	126	Q8TCU6	PREX1_HUMAN	H	126	ENSP00000361009:Q126H;ENSP00000379522:Q126H	ENSP00000361009:Q126H	Q	-	3	2	PREX1	46795005	1.000000	0.71417	0.997000	0.53966	0.519000	0.34347	0.839000	0.27586	1.218000	0.43458	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	0	42	909	0	210	0	5.122197e-01	0	38	0	210	2		0	0	0	0	0	2	1	1	42	889	0	208	2								-5.527319	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.520000	0.380000	1.000000	0.520000	0.552914	0.520000	0	4.400000e-01	6.300000e-01
ARFGEF2	10564	broad.mit.edu	37	20	47582460	47582460	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47582460T>C	ENST00000371917.4	+	8	959	c.959T>C	c.(958-960)cTg>cCg	p.L320P		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)			63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		CTAGGTGAACTGGAGTGCCAG	0.468000													Esophageal Squamous(176;1738 1974 26285 33069 35354)											0							SO:0001583	missense			ENST00000371917.4	1	1	hg19	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415843	0.25552	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.23950	1.88	5.77	1.91	0.25777	Armadillo-type fold (1);	1.860230	0.02204	N	0.062554	T	0.19167	0.0460	N	0.19112	0.55	0.20821	N	0.999841	B	0.24533	0.105	B	0.20384	0.029	T	0.22173	-1.0224	10	0.30854	T	0.27	.	8.4988	0.33146	0.0:0.2371:0.0:0.7629	.	320	Q9Y6D5	BIG2_HUMAN	P	320	ENSP00000360985:L320P	ENSP00000360985:L320P	L	+	2	0	ARFGEF2	47015867	0.201000	0.23410	0.163000	0.22734	0.955000	0.61496	0.678000	0.25277	0.331000	0.23511	0.379000	0.24179	CTG		TCGA-IB-7651-01A-11D-2154-08	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	1	0	1	100	388	0	89	1	9.992987e-01	8	36	0	89	2		0	0	0	0	0	2	1	1	99	377	0	88	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARFGEF2	10564	broad.mit.edu	37	20	47601357	47601357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47601357C>T	ENST00000371917.4	+	15	2050	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)			63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		ATTCCTGCACCAGGAGGAGCG	0.517000													Esophageal Squamous(176;1738 1974 26285 33069 35354)											0							SO:0001587	stop_gained			ENST00000371917.4	0	1	hg19	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	39	7.447046	0.98289	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	5.85	5.85	0.93711	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	684	.	ENSP00000360985:Q684X	Q	+	1	0	ARFGEF2	47034764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.920000	0.70017	2.770000	0.95276	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	1	0	0	121	446	0	142	1	9.999821e-01	3	57	0	142	2		0	0	0	0	0	2	1	1	119	436	0	139	2								-3.291779	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARFGEF2	10564	broad.mit.edu	37	20	47628603	47628603	+	Silent	SNP	C	C	T	rs142138231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47628603C>T	ENST00000371917.4	+	28	3900	c.3900C>T	c.(3898-3900)taC>taT	p.Y1300Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)			63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		GTGGCAAATACGTCTCTGAGA	0.517000													Esophageal Squamous(176;1738 1974 26285 33069 35354)											0							SO:0001819	synonymous_variant			ENST00000371917.4	1	1	hg19	CCDS13411.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	1	0	0	31	434	0	72	1	8.905539e-01	3	53	0	72	2		0	0	0	0	0	2	1	1	30	425	0	72	2								-20.000000	1	1	121412	1	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.790000	0.550000	1.000000	1.000000	0.805683	0.790000	0	6.600000e-01	9.700000e-01
CSE1L	1434	broad.mit.edu	37	20	47691952	47691952	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47691952T>G	ENST00000262982.2	+	12	1353	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K|CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)			35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		GTTATGTTAATTCCATGCTGC	0.428000																								0							SO:0001583	missense			ENST00000262982.2	1	1	hg19	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	T	9.525	1.109234	0.20714	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.65916	-0.18;-0.18;-0.18	5.68	3.35	0.38373	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.083086	0.85682	D	0.000000	T	0.42562	0.1208	L	0.31476	0.935	0.58432	D	0.99999	B;B;B;B;B	0.18968	0.002;0.002;0.016;0.032;0.006	B;B;B;B;B	0.16722	0.007;0.012;0.016;0.016;0.012	T	0.15321	-1.0441	10	0.07325	T	0.83	-24.4379	8.1045	0.30877	0.0:0.3166:0.0:0.6834	.	99;193;354;354;410	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	K	410;193;354	ENSP00000262982:N410K;ENSP00000446477:N193K;ENSP00000379495:N354K	ENSP00000262982:N410K	N	+	3	2	CSE1L	47125359	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.550000	0.45811	0.403000	0.25479	-0.366000	0.07423	AAT		TCGA-IB-7651-01A-11D-2154-08	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	1	0	1	105	400	0	89	1	1	42	135	0	89	2		0	0	0	0	0	2	1	1	104	393	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSE1L	1434	broad.mit.edu	37	20	47700686	47700686	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47700686A>G	ENST00000262982.2	+	15	1729	c.1606A>G	c.(1606-1608)Aac>Gac	p.N536D	CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D|CSE1L_ENST00000396192.3_Missense_Mutation_p.N480D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)			35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		GCGAGGGCCTAACAATGCCAC	0.403000																								0							SO:0001583	missense			ENST00000262982.2	0	1	hg19	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888602	0.33348	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.43688	0.94;0.94;0.94	5.61	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.131649	0.64402	D	0.000002	T	0.29389	0.0732	L	0.31065	0.9	0.47547	D	0.999453	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.003	T	0.05716	-1.0868	10	0.13108	T	0.6	-10.0128	12.7828	0.57487	0.863:0.137:0.0:0.0	.	225;319;480;536	F5GX54;B4DUC5;F8W904;P55060	.;.;.;XPO2_HUMAN	D	134;536;319;480	ENSP00000262982:N536D;ENSP00000446477:N319D;ENSP00000379495:N480D	ENSP00000262982:N536D	N	+	1	0	CSE1L	47134093	1.000000	0.71417	0.837000	0.33122	0.834000	0.47266	6.955000	0.76007	0.929000	0.37192	0.482000	0.46254	AAC		TCGA-IB-7651-01A-11D-2154-08	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	0	0	0	7	429	0	68	1	7.348307e-01	2	155	0	68	2		0	0	0	0	0	2	1	9.794695e-01	7	421	0	66	2								-6.494387	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.200000	0.080000	1.000000	0.190000	0.250566	0.200000	0	1.300000e-01	3.000000e-01
STAU1	6780	broad.mit.edu	37	20	47734381	47734381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47734381A>G	ENST00000371856.2	-	11	1852	c.1442T>C	c.(1441-1443)gTa>gCa	p.V481A	STAU1_ENST00000371828.3_Missense_Mutation_p.V406A|STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1			23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		TCCATGGGGTACGTGGCCTGA	0.542000																								0							SO:0001583	missense			ENST00000371856.2	1	1	hg19	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.485931	0.26686	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.62	1.67	0.24075	.	0.382698	0.28724	N	0.014355	T	0.16428	0.0395	N	0.19112	0.55	0.36619	D	0.875678	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15809	-1.0424	10	0.17369	T	0.5	-1.9751	9.0908	0.36610	0.7594:0.0:0.2406:0.0	.	481;406	O95793;Q5JW29	STAU1_HUMAN;.	A	406;400;481;400;400;400;406;398	ENSP00000360893:V406A;ENSP00000345425:V400A;ENSP00000360922:V481A;ENSP00000353604:V400A;ENSP00000323443:V400A;ENSP00000360867:V406A;ENSP00000360857:V398A	ENSP00000345425:V400A	V	-	2	0	STAU1	47167788	0.004000	0.15560	1.000000	0.80357	0.999000	0.98932	1.920000	0.40025	0.276000	0.22118	0.528000	0.53228	GTA		TCGA-IB-7651-01A-11D-2154-08	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	1	0	1	70	305	0	76	1	1	94	264	0	76	2		0	0	0	0	0	2	1	1	69	295	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAU1	6780	broad.mit.edu	37	20	47768165	47768165	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47768165T>G	ENST00000371856.2	-	5	874	c.464A>C	c.(463-465)aAa>aCa	p.K155T	STAU1_ENST00000371828.3_Missense_Mutation_p.K74T|STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1			23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		CCTCAACGCTTTGGCAGCAGC	0.537000																								0							SO:0001583	missense			ENST00000371856.2	1	1	hg19	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039199	0.55003	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	T;T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.63	3.37	0.38596	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.096026	0.64402	D	0.000001	D	0.85204	0.5643	M	0.77313	2.365	0.58432	D	0.999998	D;D	0.56521	0.976;0.966	D;D	0.64410	0.925;0.923	D	0.84327	0.0519	10	0.87932	D	0	-7.0256	9.2526	0.37564	0.0:0.1472:0.0:0.8528	.	155;74	O95793;Q5JW29	STAU1_HUMAN;.	T	74;74;155;74;74;74;74;74;74;114	ENSP00000360893:K74T;ENSP00000345425:K74T;ENSP00000360922:K155T;ENSP00000353604:K74T;ENSP00000323443:K74T;ENSP00000360867:K74T;ENSP00000360857:K74T;ENSP00000416779:K74T;ENSP00000398785:K114T	ENSP00000345425:K74T	K	-	2	0	STAU1	47201572	1.000000	0.71417	0.218000	0.23776	0.234000	0.25298	3.912000	0.56386	0.433000	0.26313	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	1	0	1	61	312	0	80	1	1	97	306	0	80	2		0	0	0	0	0	2	1	1	60	304	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX27	55661	broad.mit.edu	37	20	47836014	47836014	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47836014C>A	ENST00000371764.4	+	1	131	c.122C>A	c.(121-123)aCc>aAc	p.T41N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27			45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		TTAATCGGAACCATAGGCGAG	0.602000																								0							SO:0001583	missense			ENST00000371764.4	1	1	hg19	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076268	0.76415	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	D	0.86297	-2.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	L	0.54323	1.7	0.58432	D	0.999994	D	0.76494	0.999	D	0.63488	0.915	D	0.91424	0.5161	10	0.87932	D	0	-20.4532	16.1635	0.81734	0.0:1.0:0.0:0.0	.	41	Q96GQ7	DDX27_HUMAN	N	41	ENSP00000360828:T41N	ENSP00000360828:T41N	T	+	2	0	DDX27	47269421	1.000000	0.71417	0.975000	0.42487	0.197000	0.23852	5.007000	0.63984	2.894000	0.99253	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1	1	0	1	31	237	0	50	1	9.999625e-01	30	93	0	50	2		0	0	0	0	0	2	1	1	31	234	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.960000	1.000000	1.000000	0.997293	0.990000	1	9.900000e-01	1
CSNK2A1	1457	broad.mit.edu	37	20	478425	478425	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:478425C>A	ENST00000217244.3	-	7	742		c.e7-1		CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site|CSNK2A1_ENST00000400217.2_Splice_Site	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide			17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		GGTACAATTGCTGTTAAAGAC	0.343000																								0							SO:0001630	splice_region_variant			ENST00000217244.3	1	1	hg19	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680195	0.88542	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4678	0.90762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK2A1	426425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.847000	0.97988	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	1	0	1	37	199	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	37	197	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
ZNFX1	57169	broad.mit.edu	37	20	47865209	47865209	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47865209C>T	ENST00000396105.1	-	14	4598	c.4352G>A	c.(4351-4353)aGc>aAc	p.S1451N	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1			60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		TTCGAAGCAGCTGTGGCAGGA	0.567000																								0							SO:0001583	missense			ENST00000396105.1	1	1	hg19	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053567	0.19907	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56776	0.44;0.44	6.07	3.83	0.44106	.	0.355484	0.33235	N	0.005129	T	0.39358	0.1075	L	0.43757	1.38	0.23886	N	0.99656	B	0.02656	0.0	B	0.06405	0.002	T	0.15549	-1.0433	10	0.25106	T	0.35	-19.6266	7.0874	0.25266	0.0:0.6048:0.2292:0.166	.	1451	Q9P2E3	ZNFX1_HUMAN	N	1451	ENSP00000360817:S1451N;ENSP00000379412:S1451N	ENSP00000360817:S1451N	S	-	2	0	ZNFX1	47298616	0.006000	0.16342	1.000000	0.80357	0.907000	0.53573	0.683000	0.25349	1.578000	0.49821	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	1	0	1	54	206	0	53	1	1	55	111	0	53	2		0	0	0	0	0	2	1	1	48	202	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNB1	3745	broad.mit.edu	37	20	47991499	47991499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47991499C>T	ENST00000371741.4	-	2	764	c.598G>A	c.(598-600)Gtc>Atc	p.V200I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1			53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	Dalfampridine(DB06637)	GTGGAGAGGACGATGAACATG	0.522000																								0							SO:0001583	missense			ENST00000371741.4	1	1	hg19	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125325	0.37533	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97378	-4.36	5.87	5.87	0.94306	.	0.123534	0.53938	N	0.000050	D	0.93216	0.7839	N	0.26042	0.785	0.58432	D	0.999997	P	0.40266	0.71	B	0.32211	0.142	D	0.92691	0.6166	10	0.35671	T	0.21	.	18.7962	0.91995	0.0:1.0:0.0:0.0	.	200	Q14721	KCNB1_HUMAN	I	200;155	ENSP00000360806:V200I	ENSP00000360806:V200I	V	-	1	0	KCNB1	47424906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.945000	0.63568	2.785000	0.95823	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	1	0	1	39	159	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	38	156	0	49	2								-19.999930	1	1	121364	3	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTGIS	5740	broad.mit.edu	37	20	48164483	48164483	+	Missense_Mutation	SNP	C	C	T	rs144185728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48164483C>T	ENST00000244043.4	-	3	301	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase			27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GAGCCTGGTGCGAGGCTCCCA	0.557000																								0							SO:0001583	missense			ENST00000244043.4	1	1	hg19	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	9.361	1.067960	0.20067	0.0	2.33E-4	ENSG00000124212	ENST00000244043	T	0.68624	-0.34	5.01	3.07	0.35406	.	0.452476	0.24220	N	0.040442	T	0.48205	0.1487	N	0.16368	0.405	0.35058	D	0.761245	B	0.14438	0.01	B	0.08055	0.003	T	0.50145	-0.8862	10	0.42905	T	0.14	-15.4298	10.6534	0.45661	0.0:0.8382:0.0:0.1618	.	91	Q16647	PTGIS_HUMAN	H	91	ENSP00000244043:R91H	ENSP00000244043:R91H	R	-	2	0	PTGIS	47597890	0.993000	0.37304	0.603000	0.28903	0.174000	0.22865	1.806000	0.38892	0.502000	0.28037	-0.463000	0.05309	CGC		TCGA-IB-7651-01A-11D-2154-08	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2	1	0	1	127	599	0	140	0	9.950421e-01	1	39	0	140	2		0	0	0	0	0	2	1	1	124	589	0	139	2								-20.000000	1	1	121412	8	42	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B4GALT5	9334	broad.mit.edu	37	20	48252915	48252915	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48252915G>A	ENST00000371711.4	-	9	1288	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5			20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		ACAAGGCGTCGTATGTGATGT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000371711.4	1	1	hg19	CCDS13420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	1	0	1	72	344	0	79	1	1	36	153	0	79	2		0	0	0	0	0	2	1	1	70	338	0	79	2								-20.000000	1	1	121412	2	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B4GALT5	9334	broad.mit.edu	37	20	48259054	48259054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48259054G>T	ENST00000371711.4	-	5	744	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5			20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		CTGGAGCATGGGAAGCAGGTG	0.493000																								0							SO:0001583	missense			ENST00000371711.4	1	1	hg19	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820244	0.90873	.	.	ENSG00000158470	ENST00000371711	T	0.37058	1.22	5.78	4.84	0.62591	.	0.046700	0.85682	D	0.000000	T	0.66906	0.2837	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75468	-0.3307	10	0.87932	D	0	-23.4875	14.7944	0.69868	0.0688:0.0:0.9312:0.0	.	186	O43286	B4GT5_HUMAN	H	186	ENSP00000360776:P186H	ENSP00000360776:P186H	P	-	2	0	B4GALT5	47692461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	1.453000	0.47775	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	0	0	1	50	309	0	80	1	1	58	130	0	80	2		0	0	0	0	0	2	1	1	49	303	0	79	2								-2.880169	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
B4GALT5	9334	broad.mit.edu	37	20	48260145	48260145	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48260145T>C	ENST00000371711.4	-	4	594	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5			20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		TTCATGAATGTAATCCATTCC	0.463000																								0							SO:0001583	missense			ENST00000371711.4	1	1	hg19	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525094	0.64747	.	.	ENSG00000158470	ENST00000371711	T	0.21734	1.99	5.46	-3.22	0.05125	.	0.514621	0.24020	N	0.042290	T	0.14657	0.0354	N	0.14661	0.345	0.23150	N	0.998216	P	0.44521	0.837	P	0.52627	0.704	T	0.18808	-1.0325	10	0.40728	T	0.16	0.0085	5.8684	0.18789	0.1051:0.0634:0.4693:0.3622	.	136	O43286	B4GT5_HUMAN	C	136	ENSP00000360776:Y136C	ENSP00000360776:Y136C	Y	-	2	0	B4GALT5	47693552	0.927000	0.31430	0.005000	0.12908	0.929000	0.56500	1.853000	0.39358	-0.974000	0.03550	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	1	0	1	94	347	0	79	1	1	47	115	0	79	2		0	0	0	0	0	2	1	1	92	342	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC23A2	9962	broad.mit.edu	37	20	4855240	4855240	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4855240C>T	ENST00000379333.1	-	10	1319	c.927G>A	c.(925-927)caG>caA	p.Q309Q	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.Q195Q|SLC23A2_ENST00000338244.1_Silent_p.Q309Q	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2			27					TTTTGAACAGCTGTAACTTGT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000379333.1	1	1	hg19	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180732	0.01633	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.44	-1.36	0.09085	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-9.0181	5.6703	0.17719	0.0:0.475:0.2403:0.2847	.	.	.	.	T	66	.	.	A	-	1	0	SLC23A2	4803240	1.000000	0.71417	0.976000	0.42696	0.005000	0.04900	2.191000	0.42640	-0.233000	0.09797	-0.176000	0.13171	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1	1	0	0	120	570	0	154	1	9.955665e-01	2	39	0	154	2		0	0	0	0	0	2	1	1	117	561	0	154	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM65C	140876	broad.mit.edu	37	20	49214249	49214249	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49214249T>G	ENST00000327979.2	-	14	2059		c.e14-2		FAM65C_ENST00000535356.1_Splice_Site|FAM65C_ENST00000045083.2_Splice_Site			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C			29					TCTGCAGGGCTGTGGACGAAG	0.662000																								0							SO:0001630	splice_region_variant			ENST00000327979.2	1	1	hg19	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039431	0.35989	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5877	0.50929	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM65C	48647656	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.106000	0.57804	1.789000	0.52484	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1	1	0	1	20	84	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999976e-01	20	83	0	21	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999951	0.990000	1	9.900000e-01	1
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox			39					CTGGGTTATCGTTAGAGATTT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000396029.3	1	1	hg19	CCDS13433.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	1	0	1	89	781	0	168	1	1	29	220	0	168	2		0	0	0	0	0	2	1	1	87	771	0	168	2								-20.000000	1	1	121412	21	48	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.980000	1.000000	1.000000	0.998685	0.990000	1	9.900000e-01	1
ADNP	23394	broad.mit.edu	37	20	49509662	49509662	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49509662T>C	ENST00000396029.3	-	5	2156	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	ADNP_ENST00000349014.3_Missense_Mutation_p.H530R|ADNP_ENST00000396032.3_Missense_Mutation_p.H530R|ADNP_ENST00000371602.4_Missense_Mutation_p.H530R	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox			39					CATCCGCATGTGTGCGGCCAT	0.408000																								0							SO:0001583	missense			ENST00000396029.3	1	1	hg19	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849202	0.51270	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	L	0.49126	1.545	0.52099	D	0.999945	D	0.71674	0.998	D	0.73708	0.981	T	0.72134	-0.4382	9	0.87932	D	0	-0.8131	13.4865	0.61369	0.0:0.0:0.1306:0.8694	.	530	Q9H2P0	ADNP_HUMAN	R	530	.	ENSP00000342905:H530R	H	-	2	0	ADNP	48943069	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.965000	0.70387	1.084000	0.41184	0.528000	0.53228	CAC		TCGA-IB-7651-01A-11D-2154-08	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	1	0	1	149	614	0	143	1	1	51	152	0	143	2		0	0	0	0	0	2	1	1	147	604	0	140	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADNP	23394	broad.mit.edu	37	20	49510697	49510697	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49510697T>C	ENST00000396029.3	-	5	1121	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C|ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C|ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox			39					ATGTTCCCTGTAAATGTGCTT	0.448000																								0							SO:0001583	missense			ENST00000396029.3	1	1	hg19	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.267821	0.59540	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	L	0.60455	1.87	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.81885	-0.0727	10	0.49607	T	0.09	-3.5076	16.6438	0.85155	0.0:0.0:0.0:1.0	.	185	Q9H2P0	ADNP_HUMAN	C	185	ENSP00000360662:Y185C;ENSP00000342905:Y185C;ENSP00000379346:Y185C;ENSP00000379349:Y185C	ENSP00000342905:Y185C	Y	-	2	0	ADNP	48944104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.333000	0.79357	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	0	0	1	146	604	1	111	1	9.999920e-01	29	85	1	111	6		0	0	0	0	0	2	1	1	140	594	1	108	22								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFATC2	4773	broad.mit.edu	37	20	50048864	50048864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50048864C>T	ENST00000396009.3	-	9	2681	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000609943.1_Missense_Mutation_p.R801H|NFATC2_ENST00000610033.1_Missense_Mutation_p.R602H|NFATC2_ENST00000609507.1_Missense_Mutation_p.R602H|NFATC2_ENST00000371564.3_Missense_Mutation_p.R821H	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2		EWSR1/NFATC2(9)	53	Hepatocellular(150;0.248)				GCTTCCGCAGCGCAGCTGCTG	0.652000																								0							SO:0001583	missense			ENST00000396009.3	1	1	hg19	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023731	0.75390	0.0	1.16E-4	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.16457	2.34;2.35;2.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.40543	1.245	0.40106	D	0.976437	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.78314	0.945;0.991;0.948;0.899	T	0.03077	-1.1075	10	0.11485	T	0.65	-26.03	19.3156	0.94211	0.0:1.0:0.0:0.0	.	801;801;821;821	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	821;821;801	ENSP00000360619:R821H;ENSP00000379330:R821H;ENSP00000396471:R801H	ENSP00000360619:R821H	R	-	2	0	NFATC2	49482271	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.589000	0.67523	2.567000	0.86603	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	1	0	1	59	493	0	82	0	1.714453e-01	0	7	0	82	2		0	0	0	0	0	2	1	1	56	481	0	80	2								-3.318794	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.980000	1.000000	1.000000	0.998361	0.990000	1	9.900000e-01	1
NFATC2	4773	broad.mit.edu	37	20	50071220	50071220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50071220G>A	ENST00000396009.3	-	6	1933	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000610033.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.R353*|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.R572*	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2		EWSR1/NFATC2(9)	53	Hepatocellular(150;0.248)				TGAGCAGATCGCTGGGCTGCA	0.502000																								0							SO:0001587	stop_gained			ENST00000396009.3	0	1	hg19	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	41	8.675014	0.98910	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.59	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1039	13.2218	0.59892	0.0:0.0:0.7277:0.2723	.	.	.	.	X	572;572;552	.	ENSP00000360619:R572X	R	-	1	2	NFATC2	49504627	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.442000	0.59988	2.622000	0.88805	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	1	0	0	51	578	0	167	0	6.370920e-01	0	26	0	167	2		0	0	0	0	0	2	1	1	51	563	0	166	2								-12.499250	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.960000	0.720000	1.000000	1.000000	0.933487	0.960000	1	8.300000e-01	1
ATP9A	10079	broad.mit.edu	37	20	50235228	50235228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50235228G>A	ENST00000338821.5	-	21	2587	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C	ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A			48					TTGCCCGTGCGCTCCTGAAGC	0.642000																								0							SO:0001583	missense			ENST00000338821.5	1	1	hg19	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105149	0.77096	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.82433	-1.61;-1.61;-1.61	5.35	5.35	0.76521	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	L	0.56396	1.775	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61658	0.738;0.892	D	0.88117	0.2829	10	0.72032	D	0.01	-33.5724	12.251	0.54597	0.0:0.0:0.7122:0.2878	.	654;775	O75110-2;O75110	.;ATP9A_HUMAN	C	639;775;654	ENSP00000309086:R639C;ENSP00000342481:R775C;ENSP00000385875:R654C	ENSP00000309086:R639C	R	-	1	0	ATP9A	49668635	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.258000	0.51507	2.493000	0.84123	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	1	0	1	81	335	0	44	1	9.999986e-01	15	68	0	44	2		0	0	0	0	0	2	1	1	81	330	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP9A	10079	broad.mit.edu	37	20	50305609	50305609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50305609C>T	ENST00000338821.5	-	9	1057	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A			48					TCACCTGATGCGACCACAGTG	0.483000																								0							SO:0001583	missense			ENST00000338821.5	1	1	hg19	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003612	0.74932	.	.	ENSG00000054793	ENST00000338821	D	0.90444	-2.67	5.26	5.26	0.73747	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.95197	0.8313	10	0.62326	D	0.03	-19.9054	18.8514	0.92232	0.0:1.0:0.0:0.0	.	265	O75110	ATP9A_HUMAN	T	265	ENSP00000342481:A265T	ENSP00000342481:A265T	A	-	1	0	ATP9A	49739016	1.000000	0.71417	0.106000	0.21319	0.299000	0.27559	7.439000	0.80444	2.437000	0.82529	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	0	0	0	84	1031	1	208	1	8.735663e-01	3	62	1	208	3		0	0	0	0	0	2	1	1	83	1009	1	205	19								-15.815640	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.890000	0.710000	1.000000	1.000000	0.894238	0.890000	1	8.000000e-01	1
ATP9A	10079	broad.mit.edu	37	20	50310575	50310575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50310575G>A	ENST00000338821.5	-	7	878	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A			48					CTGCGTGCAGGCCACGGGAAG	0.627000																								0							SO:0001583	missense			ENST00000338821.5	1	1	hg19	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305346	0.60305	.	.	ENSG00000054793	ENST00000338821	D	0.90955	-2.76	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);	0.049853	0.85682	D	0.000000	D	0.83954	0.5366	N	0.11845	0.185	0.80722	D	1	B	0.20459	0.045	B	0.29176	0.099	T	0.81035	-0.1115	10	0.52906	T	0.07	-37.016	15.3011	0.73952	0.0:0.217:0.783:0.0	.	205	O75110	ATP9A_HUMAN	V	205	ENSP00000342481:A205V	ENSP00000342481:A205V	A	-	2	0	ATP9A	49743982	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.348000	0.73009	2.329000	0.79093	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	1	0	1	106	445	0	74	1	1	12	96	0	74	2		0	0	0	0	0	2	1	1	106	435	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP9A	10079	broad.mit.edu	37	20	50329607	50329607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50329607C>T	ENST00000338821.5	-	4	598	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M|ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A			48					ACGGCCAGCACGAAGCCCTGC	0.627000																								0							SO:0001583	missense			ENST00000338821.5	1	1	hg19	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761489	0.89932	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.83335	-1.71;-1.71;-1.71	4.8	4.8	0.61643	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060523	0.64402	D	0.000004	D	0.93501	0.7926	H	0.94734	3.575	0.36707	D	0.880458	D;D	0.69078	0.963;0.997	P;D	0.70016	0.758;0.967	D	0.97222	0.9878	10	0.87932	D	0	-25.178	17.8464	0.88731	0.0:1.0:0.0:0.0	.	112;112	O75110-2;O75110	.;ATP9A_HUMAN	M	97;112;112	ENSP00000309086:V97M;ENSP00000342481:V112M;ENSP00000385875:V112M	ENSP00000309086:V97M	V	-	1	0	ATP9A	49763014	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.082000	0.76851	2.216000	0.71823	0.557000	0.71058	GTG		TCGA-IB-7651-01A-11D-2154-08	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	1	0	1	10	57	0	21	1	9.967262e-01	15	48	0	21	2		0	0	0	0	0	2	1	9.972124e-01	9	56	0	21	2								-18.341320	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.890000	1.000000	1.000000	0.993674	0.990000	1	9.900000e-01	1
SALL4	57167	broad.mit.edu	37	20	50405543	50405543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405543C>T	ENST00000217086.4	-	3	2710	c.2599G>A	c.(2599-2601)Gcc>Acc	p.A867T	SALL4_ENST00000395997.3_Missense_Mutation_p.A430T|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Missense_Mutation_p.A90T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4			63					TGTTGCTTGGCCTGTCGGCGT	0.567000																								0							SO:0001583	missense			ENST00000217086.4	1	1	hg19	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119256	0.56505	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.09163	3.01;3.21;3.24	5.73	4.79	0.61399	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.332661	0.22021	N	0.065740	T	0.13586	0.0329	L	0.47190	1.495	0.42929	D	0.994317	B;P;P	0.48294	0.028;0.791;0.908	B;B;P	0.45406	0.02;0.196;0.479	T	0.11372	-1.0590	10	0.18710	T	0.47	-16.0971	14.6039	0.68463	0.0:0.9296:0.0:0.0704	.	430;90;867	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	T	867;430;90	ENSP00000217086:A867T;ENSP00000379319:A430T;ENSP00000360594:A90T	ENSP00000217086:A867T	A	-	1	0	SALL4	49838950	0.897000	0.30589	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	1.413000	0.46997	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	1	50	253	0	64	0	3.317166e-01	0	7	0	64	2		0	0	0	0	0	2	1	1	48	246	0	61	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SALL4	57167	broad.mit.edu	37	20	50406636	50406636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406636C>T	ENST00000217086.4	-	2	2497	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4			63					TTGATGCTTTCGGCTTGACTA	0.527000																								0							SO:0001583	missense			ENST00000217086.4	1	1	hg19	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687702	0.48097	.	.	ENSG00000101115	ENST00000217086	T	0.09723	2.95	5.67	5.67	0.87782	.	0.162064	0.29246	N	0.012702	T	0.19725	0.0474	M	0.77820	2.39	0.80722	D	1	D	0.56968	0.978	B	0.43155	0.41	T	0.06826	-1.0805	10	0.25106	T	0.35	-22.0237	19.7711	0.96366	0.0:1.0:0.0:0.0	.	796	Q9UJQ4	SALL4_HUMAN	K	796	ENSP00000217086:E796K	ENSP00000217086:E796K	E	-	1	0	SALL4	49840043	0.929000	0.31497	0.817000	0.32601	0.670000	0.39368	3.108000	0.50337	2.654000	0.90174	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	1	78	343	0	73	0	2.355646e-01	0	5	0	73	2		0	0	0	0	0	2	1	1	79	336	0	70	2								-3.340050	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SALL4	57167	broad.mit.edu	37	20	50406812	50406812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406812C>T	ENST00000217086.4	-	2	2321	c.2210G>A	c.(2209-2211)gGt>gAt	p.G737D	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4			63					AGGGGCAGGACCCACTTTCCC	0.597000																								0							SO:0001583	missense			ENST00000217086.4	1	1	hg19	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893212	0.17613	.	.	ENSG00000101115	ENST00000217086	T	0.08896	3.04	5.54	0.963	0.19649	.	0.340850	0.21557	N	0.072629	T	0.07413	0.0187	L	0.57536	1.79	0.22081	N	0.999371	B	0.31680	0.335	B	0.27500	0.08	T	0.26155	-1.0111	10	0.34782	T	0.22	-6.1887	5.3879	0.16227	0.1542:0.4621:0.3096:0.0741	.	737	Q9UJQ4	SALL4_HUMAN	D	737	ENSP00000217086:G737D	ENSP00000217086:G737D	G	-	2	0	SALL4	49840219	0.633000	0.27181	0.017000	0.16124	0.356000	0.29392	2.529000	0.45632	0.237000	0.21200	0.561000	0.74099	GGT		TCGA-IB-7651-01A-11D-2154-08	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	0	22	212	0	55	0	9.869127e-03	0	2	0	55	2		0	0	0	0	0	2	1	9.999988e-01	22	206	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.730000	1.000000	1.000000	0.965751	0.990000	1	9.000000e-01	1
SALL4	57167	broad.mit.edu	37	20	50408810	50408810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50408810G>A	ENST00000217086.4	-	2	323	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SALL4_ENST00000395997.3_Missense_Mutation_p.T71M|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4			63					ACAGACGTGCGTCTCCTCCCG	0.488000																								0							SO:0001583	missense			ENST00000217086.4	1	1	hg19	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759725	0.89932	0.0	1.16E-4	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.50813	0.73;0.73	5.53	5.53	0.82687	.	0.163396	0.29314	N	0.012505	T	0.73140	0.3549	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.94	T	0.77496	-0.2566	10	0.87932	D	0	-27.7113	19.4467	0.94851	0.0:0.0:1.0:0.0	.	71;71	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	M	71	ENSP00000217086:T71M;ENSP00000379319:T71M	ENSP00000217086:T71M	T	-	2	0	SALL4	49842217	1.000000	0.71417	0.068000	0.19968	0.102000	0.19082	7.635000	0.83286	2.582000	0.87167	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3	1	0	1	92	299	0	55	0	0	0	1	0	55	2		0	0	0	0	0	2	1	1	89	288	0	55	2								-20.000000	1	1	121412	3	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFP64	55734	broad.mit.edu	37	20	50701282	50701282	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50701282G>T	ENST00000361387.2	-	9	1812	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	ZFP64_ENST00000371523.4_Silent_p.T365T|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein			33					AGGCGCCGCAGGTCTCACAGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000361387.2	1	1	hg19	CCDS13439.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	1	0	1	37	203	0	41	0	4.782660e-01	1	9	0	41	2		0	0	0	0	0	2	1	1	37	200	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
ZFP64	55734	broad.mit.edu	37	20	50769195	50769195	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50769195G>A	ENST00000216923.4	-	6	1885	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.V458V|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein			33					CGGCAGCCTGGACGATGGTGT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000216923.4	1	1	hg19	CCDS13440.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	1	0	1	35	191	0	30	1	9.849749e-01	9	30	0	30	2		0	0	0	0	0	2	1	1	35	188	0	29	2								-20.000000	1	1	119454	1	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
ZFP64	55734	broad.mit.edu	37	20	50782534	50782534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50782534C>T	ENST00000216923.4	-	3	666	c.317G>A	c.(316-318)gGc>gAc	p.G106D	ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D|ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000477786.1_5'UTR	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein			33					AGTTTGATAGCCATGTTCAAA	0.423000																								0							SO:0001583	missense			ENST00000216923.4	1	1	hg19	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426445	0.62733	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000371515;ENST00000371516	T;T;T;T	0.07908	3.25;3.24;3.15;3.15	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	T	0.25382	0.0617	L	0.56769	1.78	0.44181	D	0.996993	D;D;P	0.89917	1.0;1.0;0.747	D;D;B	0.91635	0.999;0.999;0.255	T	0.00822	-1.1552	10	0.20046	T	0.44	-34.4146	18.1401	0.89637	0.0:1.0:0.0:0.0	.	104;106;106	Q5JWM1;Q9NPA5;Q9NTW7	.;ZF64A_HUMAN;ZF64B_HUMAN	D	106;106;106;104;106	ENSP00000360573:G106D;ENSP00000355179:G106D;ENSP00000216923:G106D;ENSP00000360570:G104D	ENSP00000216923:G106D	G	-	2	0	ZFP64	50215941	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	3.755000	0.55197	2.726000	0.93360	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	1	0	1	38	247	0	55	1	9.916847e-01	8	43	0	55	2		0	0	0	0	0	2	1	1	38	241	0	55	2								-17.333810	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999855	0.990000	1	9.900000e-01	1
TSHZ2	128553	broad.mit.edu	37	20	51870294	51870294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870294C>T	ENST00000371497.5	+	2	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_ENST00000603338.2_Silent_p.C96C|TSHZ2_ENST00000329613.6_Silent_p.C96C|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2			84			STAD - Stomach adenocarcinoma(23;0.1)		AGAGTGTCTGCGGCAGAGATG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000371497.5	1	1	hg19	CCDS33490.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	0	49	230	0	59	1	9.999919e-01	7	78	0	59	2		0	0	0	0	0	2	1	1	48	225	0	57	2								-3.397570	1	1	121412	1	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHZ2	128553	broad.mit.edu	37	20	51870871	51870871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870871G>A	ENST00000371497.5	+	2	1761	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2			84			STAD - Stomach adenocarcinoma(23;0.1)		AGATTTGAGCGTCCACATGAT	0.438000																								0							SO:0001583	missense			ENST00000371497.5	1	1	hg19	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637790	0.87760	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.41758	0.99;0.99	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.54323	1.7	0.80722	D	1	D	0.58620	0.983	D	0.70935	0.971	T	0.62599	-0.6820	10	0.66056	D	0.02	-3.0281	19.4463	0.94849	0.0:0.0:1.0:0.0	.	292	Q9NRE2	TSH2_HUMAN	I	292;289	ENSP00000360552:V292I;ENSP00000333114:V289I	ENSP00000333114:V289I	V	+	1	0	TSHZ2	51304278	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.414000	0.97362	2.663000	0.90544	0.549000	0.68633	GTC		TCGA-IB-7651-01A-11D-2154-08	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1	56	231	0	60	1	9.999945e-01	3	74	0	60	2		0	0	0	0	0	2	1	1	55	226	0	59	2								-20.000000	1	1	121412	1	28	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSHZ2	128553	broad.mit.edu	37	20	51871469	51871469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871469C>A	ENST00000371497.5	+	2	2359	c.1472C>A	c.(1471-1473)cCt>cAt	p.P491H	TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2			84			STAD - Stomach adenocarcinoma(23;0.1)		CTACAAAAACCTTTAGACCCT	0.403000																								0							SO:0001583	missense			ENST00000371497.5	1	1	hg19	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679273	0.29783	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.28895	1.59;1.59	5.95	5.95	0.96441	.	0.344127	0.34700	N	0.003744	T	0.48537	0.1505	L	0.54323	1.7	0.52501	D	0.999952	D	0.69078	0.997	P	0.56865	0.808	T	0.24799	-1.0150	10	0.46703	T	0.11	-8.973	20.3655	0.98876	0.0:1.0:0.0:0.0	.	491	Q9NRE2	TSH2_HUMAN	H	491;488;17	ENSP00000360552:P491H;ENSP00000333114:P488H	ENSP00000333114:P488H	P	+	2	0	TSHZ2	51304876	0.966000	0.33281	0.094000	0.20943	0.013000	0.08279	4.562000	0.60816	2.822000	0.97130	0.643000	0.83706	CCT		TCGA-IB-7651-01A-11D-2154-08	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	0	24	481	0	115	0	7.621546e-01	1	56	0	115	2		0	0	0	0	0	2	1	9.999996e-01	23	474	0	112	2								-2.925893	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.570000	0.370000	1.000000	0.550000	0.597419	0.570000	0	4.600000e-01	7.100000e-01
TSHZ2	128553	broad.mit.edu	37	20	51871966	51871966	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871966C>A	ENST00000371497.5	+	2	2856	c.1969C>A	c.(1969-1971)Ctg>Atg	p.L657M	TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2			84			STAD - Stomach adenocarcinoma(23;0.1)		GGAGGAGAAGCTGATGAAAGA	0.597000																								0							SO:0001583	missense			ENST00000371497.5	1	1	hg19	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	8.135	0.783870	0.16189	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37915	1.17;1.17	3.64	3.64	0.41730	.	0.960519	0.08689	N	0.908319	T	0.24470	0.0593	N	0.08118	0	0.23204	N	0.998125	B	0.27732	0.187	B	0.33890	0.172	T	0.18967	-1.0320	10	0.48119	T	0.1	-0.1339	11.1201	0.48284	0.0:1.0:0.0:0.0	.	657	Q9NRE2	TSH2_HUMAN	M	657;654;183	ENSP00000360552:L657M;ENSP00000333114:L654M	ENSP00000333114:L654M	L	+	1	2	TSHZ2	51305373	0.755000	0.28372	0.926000	0.36857	0.890000	0.51754	1.467000	0.35321	2.324000	0.78689	0.643000	0.83706	CTG		TCGA-IB-7651-01A-11D-2154-08	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1	55	288	0	61	1	9.999278e-01	14	62	0	61	2		0	0	0	0	0	2	1	1	55	284	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF217	7764	broad.mit.edu	37	20	52192497	52192497	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192497A>G	ENST00000371471.2	-	4	3231	c.2806T>C	c.(2806-2808)Tac>Cac	p.Y936H	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H			O75362	ZN217_HUMAN	zinc finger protein 217			50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		CCTCTTCTGTAATTGGCCCCG	0.547000																								0							SO:0001583	missense			ENST00000371471.2	1	1	hg19	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964716	0.34659	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.09630	2.96;2.96	5.25	2.93	0.34026	.	1.460060	0.03847	N	0.271603	T	0.13927	0.0337	L	0.48642	1.525	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.16305	-1.0407	10	0.51188	T	0.08	-9.4007	4.8027	0.13305	0.6039:0.159:0.2371:0.0	.	936	O75362	ZN217_HUMAN	H	936;936;24;96	ENSP00000360526:Y936H;ENSP00000304308:Y936H	ENSP00000304308:Y936H	Y	-	1	0	ZNF217	51625904	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	0.839000	0.27586	0.297000	0.22615	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	1	0	1	55	250	0	34	1	9.999912e-01	14	67	0	34	2		0	0	0	0	0	2	1	1	52	247	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF217	7764	broad.mit.edu	37	20	52192856	52192856	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192856C>T	ENST00000371471.2	-	4	2872	c.2447G>A	c.(2446-2448)aGt>aAt	p.S816N	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N			O75362	ZN217_HUMAN	zinc finger protein 217			50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		CTTCAGGTTACTTGGGGCTAA	0.567000																								0							SO:0001583	missense			ENST00000371471.2	1	1	hg19	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092140	0.36952	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09255	3.0;3.0	5.23	4.28	0.50868	.	0.607508	0.18458	N	0.140604	T	0.08626	0.0214	L	0.39397	1.21	0.39431	D	0.967082	B	0.19200	0.034	B	0.14023	0.01	T	0.16928	-1.0386	10	0.18276	T	0.48	-30.6571	8.4592	0.32917	0.0:0.8275:0.0:0.1725	.	816	O75362	ZN217_HUMAN	N	816	ENSP00000360526:S816N;ENSP00000304308:S816N	ENSP00000304308:S816N	S	-	2	0	ZNF217	51626263	0.987000	0.35691	0.894000	0.35097	0.946000	0.59487	2.037000	0.41174	2.439000	0.82584	0.555000	0.69702	AGT		TCGA-IB-7651-01A-11D-2154-08	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	1	0	1	91	409	0	82	1	9.998597e-01	12	48	0	82	2		0	0	0	0	0	2	1	1	90	400	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF217	7764	broad.mit.edu	37	20	52198796	52198796	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198796T>G	ENST00000371471.2	-	2	995	c.570A>C	c.(568-570)caA>caC	p.Q190H	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H			O75362	ZN217_HUMAN	zinc finger protein 217			50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		TCTCCAAGCCTTGCTGCAGTT	0.512000																								0							SO:0001583	missense			ENST00000371471.2	1	1	hg19	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310239	0.60414	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10288	2.89;2.89	5.15	-10.3	0.00346	.	0.432865	0.11934	U	0.515418	T	0.12390	0.0301	L	0.32530	0.975	0.38519	D	0.948665	D	0.62365	0.991	P	0.57324	0.818	T	0.57820	-0.7745	10	0.49607	T	0.09	-11.1182	12.6688	0.56857	0.0:0.622:0.1:0.2781	.	190	O75362	ZN217_HUMAN	H	190	ENSP00000360526:Q190H;ENSP00000304308:Q190H	ENSP00000304308:Q190H	Q	-	3	2	ZNF217	51632203	0.000000	0.05858	0.234000	0.24042	0.679000	0.39708	-1.241000	0.02911	-2.023000	0.00937	0.482000	0.46254	CAA		TCGA-IB-7651-01A-11D-2154-08	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	1	0	0	51	974	0	198	0	6.415412e-01	1	42	0	198	2		0	0	0	0	0	2	1	1	51	948	0	193	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.590000	0.440000	1.000000	0.580000	0.614930	0.590000	0	5.100000e-01	6.900000e-01
ZNF217	7764	broad.mit.edu	37	20	52198924	52198924	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198924T>G	ENST00000371471.2	-	2	867	c.442A>C	c.(442-444)Aga>Cga	p.R148R	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Silent_p.R148R			O75362	ZN217_HUMAN	zinc finger protein 217			50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		TTGTGTGTTCTCATGTGGATC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000371471.2	1	1	hg19	CCDS13443.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	1	0	1	201	836	0	183	1	9.985248e-01	8	34	0	183	2		0	0	0	0	0	2	1	1	196	817	0	181	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP24A1	1591	broad.mit.edu	37	20	52788203	52788203	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52788203C>T	ENST00000216862.3	-	3	849	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CYP24A1_ENST00000395954.3_Silent_p.G10G|CYP24A1_ENST00000395955.3_Silent_p.G152G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1			24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCCAGTCTTCCCCTTCCCTGT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000216862.3	1	1	hg19	CCDS33491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2	1	0	1	116	575	0	162	1	9.999986e-01	47	48	0	162	2		0	0	0	0	0	2	1	1	111	556	0	161	2								-3.229408	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROKR2	128674	broad.mit.edu	37	20	5283374	5283374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5283374G>A	ENST00000217270.3	-	2	466	c.467C>T	c.(466-468)gCc>gTc	p.A156V	PROKR2_ENST00000546004.1_Missense_Mutation_p.A156V	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2			53					GTGAACGATGGCGAGATATCT	0.488000										HNSCC(71;0.22)														0							SO:0001583	missense			ENST00000217270.3	1	0	hg19	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	3.340	-0.134891	0.06711	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.52057	0.68;0.68	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	L	0.27944	0.81	0.80722	D	1	B	0.24258	0.1	B	0.32289	0.143	T	0.26643	-1.0097	10	0.41790	T	0.15	.	16.3922	0.83543	0.0:0.0:1.0:0.0	.	156	Q8NFJ6	PKR2_HUMAN	V	156	ENSP00000440790:A156V;ENSP00000217270:A156V	ENSP00000217270:A156V	A	-	2	0	PROKR2	5231374	1.000000	0.71417	0.827000	0.32855	0.029000	0.11900	9.294000	0.96088	2.465000	0.83290	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	1	0	0	81	342	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	79	336	0	80	2								-3.504641	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOK5	55816	broad.mit.edu	37	20	53208230	53208230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53208230A>C	ENST00000262593.5	+	5	835	c.485A>C	c.(484-486)gAg>gCg	p.E162A	DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5			19			Colorectal(105;0.202)		ATTACATATGAGTATATCTGT	0.458000																								0							SO:0001583	missense			ENST00000262593.5	1	1	hg19	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697260	0.88830	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	T;T	0.75477	-0.94;-0.94	5.66	5.66	0.87406	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.76002	2.32	0.58432	D	0.999999	P;D	0.58970	0.906;0.984	P;D	0.72075	0.651;0.976	D	0.84323	0.0517	10	0.36615	T	0.2	-21.0585	14.721	0.69305	1.0:0.0:0.0:0.0	.	54;162	Q9P104-2;Q9P104	.;DOK5_HUMAN	A	162;54	ENSP00000262593:E162A;ENSP00000379270:E54A	ENSP00000262593:E162A	E	+	2	0	DOK5	52641637	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.270000	0.95690	2.155000	0.67459	0.528000	0.53228	GAG		TCGA-IB-7651-01A-11D-2154-08	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2	1	0	1	74	318	0	93	1	9.244339e-01	2	19	0	93	2		0	0	0	0	0	2	1	1	73	315	0	92	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOK5	55816	broad.mit.edu	37	20	53227033	53227033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53227033C>T	ENST00000262593.5	+	6	1056	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5			19			Colorectal(105;0.202)		GCAGCACGAGCGCTTGCTACA	0.507000																								0							SO:0001583	missense			ENST00000262593.5	1	1	hg19	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961252	0.92791	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.83250	-1.7;-1.7	5.78	5.78	0.91487	Insulin receptor substrate-1, PTB (1);	0.048112	0.85682	D	0.000000	D	0.89687	0.6787	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.975	P;B	0.57846	0.828;0.232	D	0.90145	0.4216	10	0.66056	D	0.02	-34.542	19.0159	0.92894	0.0:1.0:0.0:0.0	.	128;236	Q9P104-2;Q9P104	.;DOK5_HUMAN	C	236;128	ENSP00000262593:R236C;ENSP00000379270:R128C	ENSP00000262593:R236C	R	+	1	0	DOK5	52660440	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	4.543000	0.60684	2.732000	0.93576	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2	1	0	1	43	229	0	66	1	9.070897e-01	4	20	0	66	2		0	0	0	0	0	2	1	1	42	228	0	65	2								-20.000000	1	0	121404	3	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DOK5	55816	broad.mit.edu	37	20	53260055	53260055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53260055G>A	ENST00000262593.5	+	7	1144	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	p.R265H(1)		19			Colorectal(105;0.202)		CCCCTGCCTCGCAGCGCCTAC	0.627000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262593.5	1	1	hg19	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975817	0.92982	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.93426	-2.23;-3.22	5.29	5.29	0.74685	.	0.057208	0.64402	D	0.000001	D	0.94863	0.8340	L	0.36672	1.1	0.58432	D	0.999991	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.964	D	0.95295	0.8398	10	0.59425	D	0.04	-7.3495	17.9128	0.88939	0.0:0.0:1.0:0.0	.	157;265	Q9P104-2;Q9P104	.;DOK5_HUMAN	H	265;157	ENSP00000262593:R265H;ENSP00000379270:R157H	ENSP00000262593:R265H	R	+	2	0	DOK5	52693462	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.468000	0.73551	2.464000	0.83262	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2	1	0	1	62	248	0	48	0	9.137915e-01	0	19	0	48	2		0	0	0	0	0	2	1	1	62	246	0	48	2								-20.000000	1	1	121412	4	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBLN4	140689	broad.mit.edu	37	20	54575785	54575785	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54575785A>G	ENST00000064571.2	-	2	1709		c.e2+1			NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor			17			Colorectal(105;0.202)		CAAAACACACACCTGGATAGT	0.363000																								0							SO:0001630	splice_region_variant			ENST00000064571.2	1	1	hg19	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006394	0.54361	.	.	ENSG00000054803	ENST00000064571	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5198	0.75857	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBLN4	54009192	1.000000	0.71417	0.992000	0.48379	0.536000	0.34869	8.896000	0.92521	2.077000	0.62373	0.374000	0.22700	.		TCGA-IB-7651-01A-11D-2154-08	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	1	0	1	97	495	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	95	485	0	98	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBLN4	140689	broad.mit.edu	37	20	54579107	54579107	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54579107G>T	ENST00000064571.2	-	1	1421	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor			17			Colorectal(105;0.202)		CACACCACCAGACACTTGCCC	0.692000																								0							SO:0001583	missense			ENST00000064571.2	1	1	hg19	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250479	0.59212	.	.	ENSG00000054803	ENST00000064571	D	0.86230	-2.09	4.98	2.99	0.34606	.	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.78456	2.415	0.58432	D	0.999996	B	0.32338	0.365	B	0.32090	0.14	D	0.84230	0.0466	10	0.40728	T	0.16	-14.5029	11.7116	0.51628	0.1514:0.0:0.8486:0.0	.	41	Q9NTU7	CBLN4_HUMAN	M	41	ENSP00000064571:L41M	ENSP00000064571:L41M	L	-	1	2	CBLN4	54012514	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.247000	0.58750	1.222000	0.43521	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	1	0	0	41	235	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	41	233	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
MC3R	4159	broad.mit.edu	37	20	54824572	54824572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824572C>T	ENST00000243911.2	+	1	785	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor			26			Colorectal(105;0.202)		AGCAGCACTGCCACCTGCCGA	0.597000																								0							SO:0001583	missense			ENST00000243911.2	1	1	hg19	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274576	0.59649	.	.	ENSG00000124089	ENST00000243911	T	0.70869	-0.52	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.81465	0.4828	L	0.56340	1.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.82263	-0.0544	10	0.51188	T	0.08	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	262	P41968	MC3R_HUMAN	S	225	ENSP00000243911:P225S	ENSP00000243911:P225S	P	+	1	0	MC3R	54257979	1.000000	0.71417	0.983000	0.44433	0.222000	0.24845	7.624000	0.83124	2.259000	0.74868	0.555000	0.69702	CCA		TCGA-IB-7651-01A-11D-2154-08	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2	1	0	1	72	299	0	53		0	0	0	0	53	2		0	0	0	0	1	2	1	1	71	292	0	52	2								-3.449193	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MC3R	4159	broad.mit.edu	37	20	54824796	54824796	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824796C>T	ENST00000243911.2	+	1	1009	c.897C>T	c.(895-897)taC>taT	p.Y299Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor			26			Colorectal(105;0.202)		CACTCATCTACGCTTTCCGGA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000243911.2	1	1	hg19	CCDS13449.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2	0	0	0	24	945	0	189		0	0	0	0	189	2		0	0	0	0	0	2	1	9.999995e-01	23	919	0	186	2								-2.759877	1	1	121412	1	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.290000	0.190000	1.000000	0.290000	0.335696	0.290000	0	2.300000e-01	3.800000e-01
CSTF1	1477	broad.mit.edu	37	20	54974226	54974226	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54974226C>T	ENST00000217109.4	+	5	1201	c.849C>T	c.(847-849)gaC>gaT	p.D283D	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa			15			Colorectal(105;0.202)		GAAGCAAGGACGGCTGCATCA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000217109.4	0	1	hg19	CCDS13452.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	0	0	0	11	618	0	125	1	7.504018e-01	7	144	0	125	2		0	0	0	0	0	2	1	9.981971e-01	10	609	0	125	2								-2.936023	1	0	121412	1	33	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.210000	0.110000	1.000000	0.210000	0.259668	0.210000	0	1.500000e-01	3.000000e-01
CSTF1	1477	broad.mit.edu	37	20	54978770	54978770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54978770C>T	ENST00000217109.4	+	6	1635	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa			15			Colorectal(105;0.202)		TACCGGAGATCGACCACTGAC	0.582000																								0							SO:0001583	missense			ENST00000217109.4	1	1	hg19	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166648	0.57476	.	.	ENSG00000101138	ENST00000217109;ENST00000425890	T	0.57907	0.37	5.38	5.38	0.77491	WD40-repeat-containing domain (1);	0.054825	0.85682	D	0.000000	T	0.48259	0.1490	L	0.38175	1.15	0.58432	D	0.999999	B	0.15930	0.015	B	0.12156	0.007	T	0.43261	-0.9402	10	0.72032	D	0.01	-2.8483	19.5609	0.95371	0.0:1.0:0.0:0.0	.	428	Q05048	CSTF1_HUMAN	L	428;415	ENSP00000217109:S428L	ENSP00000217109:S428L	S	+	2	0	CSTF1	54412177	1.000000	0.71417	0.566000	0.28421	0.362000	0.29581	7.591000	0.82666	2.682000	0.91365	0.644000	0.83932	TCG		TCGA-IB-7651-01A-11D-2154-08	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	1	0	0	23	598	0	126	1	9.863674e-01	12	167	0	126	2		0	0	0	0	0	2	1	9.999991e-01	22	581	0	124	2								-3.508432	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.440000	0.280000	1.000000	0.430000	0.477788	0.440000	0	3.500000e-01	5.600000e-01
CASS4	57091	broad.mit.edu	37	20	55027901	55027901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55027901G>T	ENST00000360314.3	+	6	1894	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	CASS4_ENST00000371336.3_Missense_Mutation_p.D557Y|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4			54					GAACAGCCCAGATGACCTTGA	0.488000																								0							SO:0001583	missense			ENST00000360314.3	1	1	hg19	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875157	0.91664	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.36878	1.23;1.23	6.17	6.17	0.99709	Serine rich protein interaction (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69840	-0.5036	10	0.87932	D	0	-26.0262	20.8794	0.99867	0.0:0.0:1.0:0.0	.	503;557;557	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Y	557	ENSP00000353462:D557Y;ENSP00000360387:D557Y	ENSP00000353462:D557Y	D	+	1	0	CASS4	54461308	1.000000	0.71417	0.962000	0.40283	0.994000	0.84299	8.912000	0.92726	2.941000	0.99782	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	1	0	0	28	310	0	69	0	8.806362e-02	0	6	0	69	2		0	0	0	0	0	2	1	1	27	304	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.670000	1.000000	1.000000	0.930408	0.990000	1	8.100000e-01	1
TFAP2C	7022	broad.mit.edu	37	20	55206408	55206408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55206408C>T	ENST00000201031.2	+	2	439	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)			13			Colorectal(105;0.229)		TCCCTACCAGCAGCTGGCCTA	0.697000																								0							SO:0001587	stop_gained			ENST00000201031.2	0	1	hg19	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	37	6.629559	0.97718	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	.	.	.	5.67	5.67	0.87782	.	0.215838	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-23.8604	19.7658	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	66;54	.	ENSP00000201031:Q66X	Q	+	1	0	TFAP2C	54639815	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.977000	0.76141	2.683000	0.91414	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	1	0	0	53	221	0	49	1	5.474673e-01	6	3	0	49	2		0	0	0	0	0	2	1	1	52	215	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPCPD1	56261	broad.mit.edu	37	20	5539456	5539456	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5539456T>C	ENST00000379019.4	-	18	1754	c.1542A>G	c.(1540-1542)caA>caG	p.Q514Q	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)			16					TGTTCTGCTTTTGCCGAACCC	0.348000																								0							SO:0001819	synonymous_variant			ENST00000379019.4	1	1	hg19	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	7.941	0.742788	0.15642	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.22	-1.59	0.08453	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-9.3187	1.6724	0.02814	0.1453:0.2905:0.2971:0.2671	.	.	.	.	E	106	.	.	K	-	1	0	GPCPD1	5487456	0.038000	0.19896	0.997000	0.53966	0.998000	0.95712	-0.952000	0.03881	-0.142000	0.11354	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	1	0	1	29	118	0	30	0	9.982708e-01	0	44	0	30	2		0	0	0	0	0	2	1	1	28	113	0	30	2								-18.979120	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
BMP7	655	broad.mit.edu	37	20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000395864.3_Missense_Mutation_p.T324M|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7			20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		CTTGGGCACCGTTTCCGGGTT	0.517000																								0							SO:0001583	missense			ENST00000395863.3	1	1	hg19	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230581	0.79688	.	.	ENSG00000101144	ENST00000395863;ENST00000395864	D;D	0.84070	-1.8;-1.8	5.21	5.21	0.72293	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.43923	1.385	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.56960	0.81;0.743	D	0.85892	0.1429	10	0.44086	T	0.13	.	18.7685	0.91882	0.0:0.0:1.0:0.0	.	324;390	B1AKZ9;P18075	.;BMP7_HUMAN	M	390;324	ENSP00000379204:T390M;ENSP00000379205:T324M	ENSP00000379204:T390M	T	-	2	0	BMP7	55179549	0.999000	0.42202	0.200000	0.23457	0.965000	0.64279	3.270000	0.51600	2.415000	0.81967	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2	1	0	1	48	211	0	55	0	4.583686e-01	0	8	0	55	2		0	0	0	0	0	2	1	1	47	207	0	54	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAE1	8480	broad.mit.edu	37	20	55949767	55949767	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55949767T>C	ENST00000395841.2	+	11	1350	c.930T>C	c.(928-930)acT>acC	p.T310T	RAE1_ENST00000395840.2_Silent_p.T310T|RAE1_ENST00000527947.1_Silent_p.T310T|RAE1_ENST00000371242.2_Silent_p.T310T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1			21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		AACTAAAAACTTCGGAACAGT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000395841.2	1	1	hg19	CCDS13458.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2	0	0	0	15	615	0	120	1	9.528089e-01	4	208	0	120	2		0	0	0	0	0	2	1	9.998627e-01	15	609	0	120	2								-3.327252	1	1	121412	1	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.290000	0.160000	1.000000	0.280000	0.330123	0.290000	0	2.200000e-01	3.900000e-01
PCK1	5105	broad.mit.edu	37	20	56139438	56139438	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139438G>T	ENST00000319441.4	+	7	1339	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)			34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		AAGGAGTGGAGCTCAGAGGAT	0.582000																								0							SO:0001583	missense			ENST00000319441.4	1	1	hg19	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891225	0.17613	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.04551	3.6;3.6;3.6	5.2	-3.57	0.04612	.	0.544994	0.22389	N	0.060701	T	0.04363	0.0120	L	0.42632	1.34	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.35624	-0.9781	10	0.59425	D	0.04	-6.392	10.5693	0.45192	0.257:0.5833:0.1597:0.0	.	75;392	B4DT64;P35558	.;PCKGC_HUMAN	I	74;392;75;260	ENSP00000319814:S392I;ENSP00000445767:S75I;ENSP00000444342:S260I	ENSP00000319814:S392I	S	+	2	0	PCK1	55572844	0.001000	0.12720	0.001000	0.08648	0.212000	0.24457	-0.015000	0.12634	-0.255000	0.09486	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2	1	0	1	57	257	0	67	1	8.959269e-02	2	1	0	67	2		0	0	0	0	0	2	1	1	56	251	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCK1	5105	broad.mit.edu	37	20	56139544	56139544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139544C>T	ENST00000319441.4	+	8	1357	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)			34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		ATAGGGGAACCTTGTGCCCAC	0.597000																								0							SO:0001583	missense			ENST00000319441.4	1	1	hg19	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693727	0.68386	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.13307	2.6;2.6	5.65	5.65	0.86999	.	0.046303	0.85682	D	0.000000	T	0.30355	0.0762	M	0.88570	2.965	0.80722	D	1	B;B	0.34372	0.057;0.451	B;B	0.37508	0.07;0.252	T	0.11991	-1.0565	10	0.45353	T	0.12	-14.1572	19.7244	0.96157	0.0:1.0:0.0:0.0	.	81;398	B4DT64;P35558	.;PCKGC_HUMAN	L	80;398;81	ENSP00000319814:P398L;ENSP00000445767:P81L	ENSP00000319814:P398L	P	+	2	0	PCK1	55572950	0.994000	0.37717	0.842000	0.33263	0.714000	0.41099	7.345000	0.79337	2.659000	0.90383	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2	1	0	1	96	380	0	115	0	1.074273e-01	1	2	0	115	2		0	0	0	0	0	2	1	1	94	375	0	113	2								-3.426954	1	1	121412	1	39	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMEPA1	56937	broad.mit.edu	37	20	56227286	56227286	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227286C>A	ENST00000341744.3	-	4	1006	c.687G>T	c.(685-687)ccG>ccT	p.P229P	PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000395816.3_Silent_p.P179P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1			16					TGTAGGTGGGCGGCGGCCCCT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000341744.3	1	1	hg19	CCDS13463.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	0	29	108	0	18	1	1	236	336	0	18	2		0	0	0	0	0	2	1	1	28	104	0	17	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PMEPA1	56937	broad.mit.edu	37	20	56227303	56227303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227303G>A	ENST00000341744.3	-	4	989	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	PMEPA1_ENST00000395814.1_Missense_Mutation_p.R174C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R189C|PMEPA1_ENST00000265626.4_Missense_Mutation_p.R174C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.R174C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1			16					CCCTCCATGCGCCCGCCGCTG	0.692000																								0							SO:0001583	missense			ENST00000341744.3	1	0	hg19	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208425	0.79240	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.55760	0.5;0.55;0.55;0.55;0.55;0.58	5.47	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.70570	0.3239	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74016	-0.3800	10	0.87932	D	0	-47.2292	12.9373	0.58322	0.0:0.0:0.7534:0.2465	.	189;224	Q5JY37;Q969W9	.;PMEPA_HUMAN	C	224;189;174;174;174;196	ENSP00000345826:R224C;ENSP00000344014:R189C;ENSP00000379161:R174C;ENSP00000265626:R174C;ENSP00000379159:R174C;ENSP00000401506:R196C	ENSP00000265626:R174C	R	-	1	0	PMEPA1	55660709	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.650000	0.61440	2.555000	0.86185	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	0	25	121	0	22	1	1	159	240	0	22	2		0	0	0	0	0	2	1	9.999999e-01	24	116	0	21	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
PMEPA1	56937	broad.mit.edu	37	20	56227318	56227318	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227318A>T	ENST00000341744.3	-	4	974	c.655T>A	c.(655-657)Tac>Aac	p.Y219N	PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1			16					CCGCTGCCGTAGCACGTGGCG	0.682000																								0							SO:0001583	missense			ENST00000341744.3	1	1	hg19	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636707	0.67130	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.44881	0.91;0.92;0.92;0.92;0.92;0.94	5.53	5.53	0.82687	.	0.073958	0.56097	D	0.000029	T	0.59074	0.2167	M	0.64997	1.995	0.58432	D	0.999995	D;D	0.67145	0.992;0.996	P;D	0.64237	0.826;0.923	T	0.56920	-0.7899	10	0.33940	T	0.23	-37.163	15.6511	0.77095	1.0:0.0:0.0:0.0	.	184;219	Q5JY37;Q969W9	.;PMEPA_HUMAN	N	219;184;169;169;169;191	ENSP00000345826:Y219N;ENSP00000344014:Y184N;ENSP00000379161:Y169N;ENSP00000265626:Y169N;ENSP00000379159:Y169N;ENSP00000401506:Y191N	ENSP00000265626:Y169N	Y	-	1	0	PMEPA1	55660724	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.663000	0.91134	2.093000	0.63338	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	0	48	172	0	26	1	1	249	247	0	26	2		0	0	0	0	0	2	1	1	45	167	0	25	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMEPA1	56937	broad.mit.edu	37	20	56227521	56227521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227521G>A	ENST00000341744.3	-	4	771	c.452C>T	c.(451-453)tCg>tTg	p.S151L	PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1			16					GTCTGACAGCGAGATGGTGGG	0.701000																								0							SO:0001583	missense			ENST00000341744.3	1	1	hg19	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797080	0.90453	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.53423	0.78;0.8;0.8;0.8;0.8;0.82;0.62	5.43	5.43	0.79202	.	0.140044	0.48767	D	0.000177	T	0.69233	0.3088	M	0.75777	2.31	0.54753	D	0.999989	D;D	0.89917	1.0;0.997	D;P	0.65773	0.938;0.851	T	0.72484	-0.4279	10	0.72032	D	0.01	-23.06	19.2379	0.93869	0.0:0.0:1.0:0.0	.	116;151	Q5JY37;Q969W9	.;PMEPA_HUMAN	L	151;116;101;101;101;123;208	ENSP00000345826:S151L;ENSP00000344014:S116L;ENSP00000379161:S101L;ENSP00000265626:S101L;ENSP00000379159:S101L;ENSP00000401506:S123L;ENSP00000379164:S208L	ENSP00000265626:S101L	S	-	2	0	PMEPA1	55660927	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	7.725000	0.84808	2.537000	0.85549	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	1	0	1	40	120	0	26	1	1	278	440	0	26	2		0	0	0	0	0	2	1	1	39	120	0	25	2								-4.489071	1	1	121378	3	29	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VAPB	9217	broad.mit.edu	37	20	57016098	57016098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57016098G>A	ENST00000475243.1	+	5	870	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C			6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		GAGGCTGCAAGGTGAAGTTCA	0.413000																								0							SO:0001583	missense			ENST00000475243.1	1	1	hg19	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	G	3.469	-0.108439	0.06924	.	.	ENSG00000124164	ENST00000475243	T	0.30981	1.51	5.49	2.51	0.30379	.	0.222846	0.47093	N	0.000241	T	0.11410	0.0278	N	0.08118	0	0.09310	N	0.999994	B;B	0.10296	0.0;0.003	B;B	0.09377	0.004;0.001	T	0.31308	-0.9948	10	0.09338	T	0.73	-9.6621	4.6963	0.12806	0.2107:0.0:0.5376:0.2517	.	55;178	B4DNS4;O95292	.;VAPB_HUMAN	S	178	ENSP00000417175:G178S	ENSP00000417175:G178S	G	+	1	0	VAPB	56449504	0.967000	0.33354	0.021000	0.16686	0.984000	0.73092	0.859000	0.27858	0.297000	0.22615	-0.157000	0.13467	GGT		TCGA-IB-7651-01A-11D-2154-08	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2	0	0	1	46	219	1	61	1	9.998689e-01	64	121	1	61	12		0	0	0	0	0	2	1	9.999939e-01	46	215	1	61	15								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APCDD1L	164284	broad.mit.edu	37	20	57036492	57036492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57036492G>A	ENST00000371149.3	-	4	1090	c.860C>T	c.(859-861)tCg>tTg	p.S287L	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like			18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		CTCGCACCCCGAGCTGACCCA	0.687000																								0							SO:0001583	missense			ENST00000371149.3	0	1	hg19	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441587	0.04604	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.18174	2.23;2.23	4.44	2.01	0.26516	.	1.721060	0.02886	N	0.133503	T	0.13756	0.0333	L	0.29908	0.895	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.08055	0.003;0.002	T	0.23619	-1.0183	10	0.23302	T	0.38	-1.2958	6.7257	0.23355	0.1959:0.1501:0.654:0.0	.	298;287	F5H6V6;Q8NCL9	.;APCDL_HUMAN	L	287;298	ENSP00000360191:S287L;ENSP00000413261:S298L	ENSP00000360191:S287L	S	-	2	0	APCDD1L	56469898	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	1.772000	0.38552	0.830000	0.34757	0.563000	0.77884	TCG		TCGA-IB-7651-01A-11D-2154-08	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	1	0	1	15	63	0	10	0	6.605907e-01	0	11	0	10	2		0	0	0	0	0	2	1	9.999117e-01	14	62	0	10	2								-20.000000	1	1	118090	1	21	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999715	0.990000	1	9.900000e-01	1
GNAS	2778	broad.mit.edu	37	20	57415518	57415518	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415518C>T	ENST00000313949.7	+	1	746	c.357C>T	c.(355-357)atC>atT	p.I119I	GNAS_ENST00000371098.2_Silent_p.I119I|GNAS_ENST00000371075.3_Silent_p.I119I|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus			441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		AGTCCGAAATCGAGTCCGAGA	0.637000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0							SO:0001819	synonymous_variant			ENST00000313949.7	1	1	hg19	CCDS13471.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	1	0	1	97	476	0	94	0	9.999945e-01	0	86	0	94	2	1	1	57	208	0	190	2	1	1	96	471	0	92	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNAS	2778	broad.mit.edu	37	20	57429152	57429152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429152C>T	ENST00000371100.4	+	1	1384	c.832C>T	c.(832-834)Cca>Tca	p.P278S	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.S214S|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus			441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		CCTCTGGGTCCCAGGCGCCAT	0.667000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0							SO:0001583	missense			ENST00000371100.4	1	1	hg19	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	5.717	0.316749	0.10845	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88354	-2.37;-2.37	4.03	1.02	0.19986	.	3.592490	0.01353	N	0.011966	T	0.80592	0.4652	N	0.19112	0.55	0.49051	D	0.999745	B	0.20550	0.046	B	0.12156	0.007	T	0.63497	-0.6624	9	.	.	.	.	6.0166	0.19607	0.0:0.6647:0.0:0.3353	.	278	Q5JWF2	GNAS1_HUMAN	S	278	ENSP00000360141:P278S;ENSP00000360143:P278S	.	P	+	1	0	GNAS	56862547	0.381000	0.25140	0.288000	0.24862	0.073000	0.16967	0.624000	0.24462	0.270000	0.21984	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	1	0	1	22	136	0	34		0	0	0	0	34	2	1	1	154	593	0	542	2	1	9.999989e-01	20	132	0	34	2								-20.000000	1	0	120388	1	26	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999128	0.990000	1	9.900000e-01	1
GNAS	2778	broad.mit.edu	37	20	57484236	57484236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57484236G>A	ENST00000371085.3	+	7	974	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M|GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.V827M	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus			441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		CAAGATCGACGTGATCAAGCA	0.512000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0							SO:0001583	missense			ENST00000371085.3	1	1	hg19	CCDS13472.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.938338|2.938338	0.52972|0.52972	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	.|D;D;D;D;D;D;D	.|0.88354	.|-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.94|4.94	2.98|2.98	0.34508|0.34508	.|G protein alpha subunit, helical insertion (4);	.|0.238750	.|0.39687	.|N	.|0.001297	D|D	0.89935|0.89935	0.6859|0.6859	L|L	0.51422|0.51422	1.61|1.61	0.42872|0.42872	D|D	0.994142|0.994142	.|P;P;B;D	.|0.76494	.|0.65;0.76;0.412;0.999	.|B;B;B;D	.|0.69142	.|0.221;0.322;0.141;0.962	D|D	0.88589|0.88589	0.3142|0.3142	5|10	.|0.66056	.|D	.|0.02	.|.	4.7344|4.7344	0.12981|0.12981	0.407:0.0:0.593:0.0|0.407:0.0:0.593:0.0	.|.	.|184;185;169;827	.|P63092;A6NI00;P63092-3;Q5JWF2	.|GNAS2_HUMAN;.;.;GNAS1_HUMAN	H|M	198|827;813;170;184;185;169;170	.|ENSP00000360141:V827M;ENSP00000360143:V813M;ENSP00000360136:V170M;ENSP00000360126:V184M;ENSP00000346328:V185M;ENSP00000265620:V169M;ENSP00000304472:V170M	.|ENSP00000265620:V169M	R|V	+|+	2|1	0|0	GNAS|GNAS	56917631|56917631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.849000|0.849000	0.48306|0.48306	3.848000|3.848000	0.55903|0.55903	1.392000|1.392000	0.46585|0.46585	-0.150000|-0.150000	0.13652|0.13652	CGT|GTG		TCGA-IB-7651-01A-11D-2154-08	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	1	0	0	63	1417	1	310	1	1	156	4984	1	310	47	1	1	43	1240	1	1184	6	1	1	61	1388	1	306	17								-5.174994	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.500000	0.380000	1.000000	0.500000	0.532073	0.500000	0	4.400000e-01	5.800000e-01
TUBB1	81027	broad.mit.edu	37	20	57598802	57598802	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598802C>T	ENST00000217133.1	+	4	589	c.320C>T	c.(319-321)aCg>aTg	p.T107M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI			16	all_lung(29;0.00711)		Colorectal(105;0.109)	Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCACTACACGGAGGGAGCC	0.577000																								0							SO:0001583	missense			ENST00000217133.1	1	1	hg19	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529552	0.64860	.	.	ENSG00000101162	ENST00000217133	T	0.70282	-0.47	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94935	0.8086	10	0.87932	D	0	.	18.1144	0.89546	0.0:1.0:0.0:0.0	.	107	Q9H4B7	TBB1_HUMAN	M	107	ENSP00000217133:T107M	ENSP00000217133:T107M	T	+	2	0	TUBB1	57032197	1.000000	0.71417	0.961000	0.40146	0.364000	0.29643	7.784000	0.85713	2.537000	0.85549	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	1	0	1	136	485	0	117		0	0	0	0	117	2		0	0	0	0	0	2	1	1	134	478	0	113	2								-4.264134	1	0	121412	3	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBB1	81027	broad.mit.edu	37	20	57599572	57599572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57599572G>A	ENST00000217133.1	+	4	1359	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI			16	all_lung(29;0.00711)		Colorectal(105;0.109)	Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCTGAGCATGGCCGCCACCTT	0.547000																								0							SO:0001583	missense			ENST00000217133.1	1	1	hg19	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098505	0.76870	.	.	ENSG00000101162	ENST00000217133	D	0.84800	-1.9	5.54	5.54	0.83059	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.85710	2.77	0.54753	D	0.999988	P	0.46859	0.885	P	0.48770	0.589	D	0.91859	0.5498	10	0.87932	D	0	.	18.4559	0.90720	0.0:0.0:1.0:0.0	.	364	Q9H4B7	TBB1_HUMAN	T	364	ENSP00000217133:A364T	ENSP00000217133:A364T	A	+	1	0	TUBB1	57032967	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	2.904000	0.48719	2.614000	0.88457	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	1	0	1	55	197	0	56	0	4.928208e-02	1	1	0	56	2		0	0	0	0	0	2	1	1	55	196	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF831	128611	broad.mit.edu	37	20	57766263	57766263	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766263C>T	ENST00000371030.2	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				TCCCACTGTACCACACGGTGC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000371030.2	1	1	hg19	CCDS42894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1	32	144	0	27	0	3.521436e-02	0	2	0	27	2		0	0	0	0	0	2	1	1	32	141	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZNF831	128611	broad.mit.edu	37	20	57766678	57766678	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766678C>A	ENST00000371030.2	+	1	604	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				CAACTCCCGGCTGTCCTCAGA	0.672000																								0							SO:0001583	missense			ENST00000371030.2	1	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389185	0.42410	.	.	ENSG00000124203	ENST00000371030	T	0.06687	3.27	5.41	4.46	0.54185	.	.	.	.	.	T	0.11537	0.0281	N	0.24115	0.695	0.25713	N	0.985465	D	0.62365	0.991	P	0.55923	0.787	T	0.13737	-1.0498	9	0.87932	D	0	-1.5935	7.5748	0.27928	0.1637:0.7519:0.0:0.0844	.	202	Q5JPB2	ZN831_HUMAN	M	202	ENSP00000360069:L202M	ENSP00000360069:L202M	L	+	1	2	ZNF831	57200073	0.014000	0.17966	0.631000	0.29282	0.837000	0.47467	0.966000	0.29331	1.255000	0.44051	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1	101	470	0	100	0	0	0	1	0	100	2		0	0	0	0	0	2	1	1	100	467	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF831	128611	broad.mit.edu	37	20	57766948	57766948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766948G>T	ENST00000371030.2	+	1	874	c.874G>T	c.(874-876)Gcg>Tcg	p.A292S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				TGGGCTCCCAGCGGCCAGCAC	0.677000																								0							SO:0001583	missense			ENST00000371030.2	1	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694301	0.00731	.	.	ENSG00000124203	ENST00000371030	T	0.04317	3.65	5.04	-0.658	0.11428	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.38672	-0.9650	9	0.08179	T	0.78	.	18.7329	0.91742	0.0:0.3924:0.6076:0.0	.	292	Q5JPB2	ZN831_HUMAN	S	292	ENSP00000360069:A292S	ENSP00000360069:A292S	A	+	1	0	ZNF831	57200343	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.018000	0.12568	-0.352000	0.08237	-0.992000	0.02543	GCG		TCGA-IB-7651-01A-11D-2154-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1	104	478	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	103	469	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF831	128611	broad.mit.edu	37	20	57767471	57767471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767471C>T	ENST00000371030.2	+	1	1397	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				CGTAGGAGGGCCCCGGGCCCC	0.662000																								0							SO:0001583	missense			ENST00000371030.2	1	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660601	0.29515	.	.	ENSG00000124203	ENST00000371030	T	0.05081	3.5	5.21	4.26	0.50523	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999999	B	0.34290	0.447	B	0.26864	0.074	T	0.39820	-0.9595	9	0.59425	D	0.04	-8.9091	12.7072	0.57067	0.0:0.9205:0.0:0.0795	.	466	Q5JPB2	ZN831_HUMAN	V	466	ENSP00000360069:A466V	ENSP00000360069:A466V	A	+	2	0	ZNF831	57200866	0.002000	0.14202	0.044000	0.18714	0.115000	0.19883	1.599000	0.36751	1.187000	0.43000	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1	72	328	0	44	0	3.334444e-02	0	2	0	44	2		0	0	0	0	0	2	1	1	69	322	0	44	2								-3.222786	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF831	128611	broad.mit.edu	37	20	57767889	57767889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767889G>A	ENST00000371030.2	+	1	1815	c.1815G>A	c.(1813-1815)agG>agA	p.R605R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				CGGGCGGCAGGAAGTGCGGCC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000371030.2	1	1	hg19	CCDS42894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	0	0	15	461	0	91	0	1.183020e-03	0	2	0	91	2		0	0	0	0	0	2	1	9.998536e-01	14	452	0	89	2								-14.064730	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.380000	0.220000	1.000000	0.370000	0.420432	0.380000	0	2.900000e-01	5.100000e-01
ZNF831	128611	broad.mit.edu	37	20	57829178	57829178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829178C>T	ENST00000371030.2	+	5	4414	c.4414C>T	c.(4414-4416)Cct>Tct	p.P1472S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				TGCTCAAAGGCCTTCTTCCTT	0.498000																								0							SO:0001583	missense			ENST00000371030.2	1	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751699	0.15778	.	.	ENSG00000124203	ENST00000371030	T	0.11385	2.78	5.69	2.71	0.32032	.	0.444750	0.21457	N	0.074226	T	0.10252	0.0251	M	0.61703	1.905	0.09310	N	0.999999	B	0.28605	0.217	B	0.21151	0.033	T	0.21381	-1.0247	10	0.29301	T	0.29	-0.0796	7.2263	0.26018	0.0:0.7333:0.0:0.2667	.	1472	Q5JPB2	ZN831_HUMAN	S	1472	ENSP00000360069:P1472S	ENSP00000360069:P1472S	P	+	1	0	ZNF831	57262573	0.000000	0.05858	0.091000	0.20842	0.040000	0.13550	0.049000	0.14099	0.754000	0.32968	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1	83	414	0	85	0	0	0	1	0	85	2		0	0	0	0	0	2	1	1	82	405	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF831	128611	broad.mit.edu	37	20	57829317	57829317	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829317A>G	ENST00000371030.2	+	5	4553	c.4553A>G	c.(4552-4554)cAg>cGg	p.Q1518R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				GACCACAGCCAGACTGCAGGG	0.527000																								0							SO:0001583	missense			ENST00000371030.2	1	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	1.075	-0.668825	0.03403	.	.	ENSG00000124203	ENST00000371030	T	0.04083	3.71	4.61	-3.4	0.04853	.	2.591440	0.01282	N	0.009769	T	0.02418	0.0074	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33497	-0.9866	10	0.05351	T	0.99	1.5943	1.4386	0.02349	0.4465:0.1546:0.258:0.1409	.	1518	Q5JPB2	ZN831_HUMAN	R	1518	ENSP00000360069:Q1518R	ENSP00000360069:Q1518R	Q	+	2	0	ZNF831	57262712	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.233000	0.09041	-0.261000	0.09405	-0.248000	0.11899	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1	36	179	0	50	0	7.857847e-02	0	3	0	50	2		0	0	0	0	0	2	1	1	35	177	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
EDN3	1908	broad.mit.edu	37	20	57896193	57896193	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57896193G>A	ENST00000337938.2	+	3	873	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	EDN3_ENST00000371028.2_Missense_Mutation_p.G163R|EDN3_ENST00000311585.7_Missense_Mutation_p.G163R|EDN3_ENST00000371025.3_Missense_Mutation_p.G163R|EDN3_ENST00000395654.3_Missense_Mutation_p.G163R	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3			19	all_lung(29;0.0115)				CGCTTGTGTGGGGAGATATGA	0.552000																								0							SO:0001583	missense			ENST00000337938.2	1	1	hg19	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001224	0.19121	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86865	-2.05;-2.05;-2.05;-2.18;-2.18	4.75	2.71	0.32032	Endothelin-like toxin, conserved site (1);Endothelin-like toxin (1);	0.869368	0.10054	N	0.721777	T	0.80412	0.4618	L	0.39898	1.24	0.09310	N	1	B;B;B;P	0.37612	0.2;0.126;0.034;0.602	B;B;B;B	0.34489	0.049;0.035;0.022;0.184	T	0.62282	-0.6887	10	0.19147	T	0.46	-11.8105	11.4336	0.50056	0.0:0.3801:0.6199:0.0	.	163;163;163;163	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	R	163	ENSP00000337128:G163R;ENSP00000311854:G163R;ENSP00000360067:G163R;ENSP00000360064:G163R;ENSP00000379015:G163R	ENSP00000311854:G163R	G	+	1	0	EDN3	57329588	0.047000	0.20315	0.001000	0.08648	0.040000	0.13550	1.507000	0.35758	0.488000	0.27723	0.555000	0.69702	GGG		TCGA-IB-7651-01A-11D-2154-08	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	0	0	0	19	571	0	119	1	5.078812e-01	3	48	0	119	2		0	0	0	0	0	2	1	9.999886e-01	19	558	0	118	2								-2.403106	0	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.390000	0.230000	1.000000	0.370000	0.424632	0.390000	0	3.000000e-01	5.000000e-01
EDN3	1908	broad.mit.edu	37	20	57899506	57899506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57899506G>A	ENST00000337938.2	+	5	1095	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EDN3_ENST00000371028.2_Missense_Mutation_p.A237T|EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Missense_Mutation_p.A223T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3			19	all_lung(29;0.0115)				TCAGGAAGGAGCCCCTTAGGA	0.557000																								0							SO:0001583	missense			ENST00000337938.2	1	1	hg19	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724016	0.30593	.	.	ENSG00000124205	ENST00000337938;ENST00000371028;ENST00000395654	D;D;D	0.96232	-3.93;-3.93;-3.95	1.63	0.415	0.16411	.	18.429800	0.00357	U	0.000034	D	0.95711	0.8605	N	0.22421	0.69	0.09310	N	1	D;D	0.60575	0.988;0.98	D;P	0.67231	0.95;0.892	D	0.87404	0.2371	10	0.59425	D	0.04	.	4.6525	0.12601	0.0:0.0:0.6297:0.3703	.	223;237	P14138-2;P14138	.;EDN3_HUMAN	T	237;237;223	ENSP00000337128:A237T;ENSP00000360067:A237T;ENSP00000379015:A223T	ENSP00000337128:A237T	A	+	1	0	EDN3	57332901	0.000000	0.05858	0.014000	0.15608	0.333000	0.28666	-0.353000	0.07691	-0.062000	0.13088	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	1	0	1	135	574	0	128	1	9.999108e-01	25	34	0	128	2		0	0	0	0	0	2	1	1	133	561	0	127	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYCP2	10388	broad.mit.edu	37	20	58439413	58439413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439413C>T	ENST00000357552.3	-	45	4771	c.4546G>A	c.(4546-4548)Gaa>Aaa	p.E1516K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2			53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		GACATCAGTTCTCTGCGTACA	0.303000																								0							SO:0001583	missense			ENST00000357552.3	1	1	hg19	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981641	0.53827	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14022	2.54;2.54	5.31	4.37	0.52481	.	0.095117	0.46145	D	0.000303	T	0.09335	0.0230	N	0.14661	0.345	0.23186	N	0.998152	B	0.25169	0.119	B	0.26416	0.069	T	0.24119	-1.0169	10	0.59425	D	0.04	-9.4305	11.6587	0.51334	0.0:0.9131:0.0:0.0869	.	1516	Q9BX26	SYCP2_HUMAN	K	1516;1516;202	ENSP00000360040:E1516K;ENSP00000350162:E1516K	ENSP00000350162:E1516K	E	-	1	0	SYCP2	57872808	1.000000	0.71417	0.983000	0.44433	0.844000	0.47949	3.194000	0.51005	1.250000	0.43966	0.305000	0.20034	GAA		TCGA-IB-7651-01A-11D-2154-08	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	0	8	71	0	24	0	1.355014e-02	0	2	0	24	2		0	0	0	0	0	2	1	9.906344e-01	8	71	0	24	2								-13.800630	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.580000	1.000000	1.000000	0.946989	0.990000	1	8.600000e-01	1
SYCP2	10388	broad.mit.edu	37	20	58439431	58439431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439431G>A	ENST00000357552.3	-	45	4753	c.4528C>T	c.(4528-4530)Ctt>Ttt	p.L1510F	SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2			53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		ACATTAAGAAGCTCCTCTTCT	0.303000																								0							SO:0001583	missense			ENST00000357552.3	0	1	hg19	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258119	0.59321	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.27104	1.69;1.69	5.31	2.07	0.26955	.	0.237603	0.29767	N	0.011253	T	0.40546	0.1121	L	0.59436	1.845	0.33681	D	0.612099	D	0.67145	0.996	D	0.67725	0.953	T	0.53760	-0.8393	10	0.72032	D	0.01	-6.6746	8.6258	0.33888	0.0826:0.2875:0.6299:0.0	.	1510	Q9BX26	SYCP2_HUMAN	F	1510;1510;196	ENSP00000360040:L1510F;ENSP00000350162:L1510F	ENSP00000350162:L1510F	L	-	1	0	SYCP2	57872826	1.000000	0.71417	0.918000	0.36340	0.892000	0.51952	2.477000	0.45180	0.611000	0.30052	0.305000	0.20034	CTT		TCGA-IB-7651-01A-11D-2154-08	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	0	1	9	71	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	9.951091e-01	9	71	0	21	2								-15.681170	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.670000	1.000000	1.000000	0.969608	0.990000	1	9.600000e-01	1
C20orf196	149840	broad.mit.edu	37	20	5844104	5844104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5844104C>A	ENST00000303142.6	+	3	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196			9					AATGAAAGACCTGTAACTGGT	0.512000																								0							SO:0001583	missense			ENST00000303142.6	1	1	hg19	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606421	0.28623	.	.	ENSG00000171984	ENST00000303142;ENST00000378971	T	0.51325	0.71	5.54	1.21	0.21127	.	1.162880	0.06175	N	0.678450	T	0.29190	0.0726	N	0.19112	0.55	0.09310	N	1	P	0.38711	0.643	B	0.34301	0.179	T	0.31447	-0.9943	10	0.87932	D	0	-11.1558	3.344	0.07128	0.1662:0.4178:0.3232:0.0928	.	205	Q8IYI0	CT196_HUMAN	M	205;151	ENSP00000305875:L205M	ENSP00000305875:L205M	L	+	1	2	C20orf196	5792104	0.000000	0.05858	0.447000	0.26932	0.171000	0.22731	-0.269000	0.08596	0.828000	0.34709	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	1	0	1	77	338	0	94	1	7.956338e-01	2	13	0	94	2		0	0	0	0	0	2	1	1	75	329	0	94	2								-3.042543	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYCP2	10388	broad.mit.edu	37	20	58441414	58441414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441414G>A	ENST00000357552.3	-	41	4479	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	SYCP2_ENST00000371001.2_Silent_p.I1418I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2			53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		GCTCCTCTATGATAATGAATT	0.244000																								0							SO:0001819	synonymous_variant			ENST00000357552.3	1	1	hg19	CCDS13482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	1	31	155	0	52	0	2.971969e-02	0	2	0	52	2		0	0	0	0	0	2	1	1	31	153	0	51	2								-17.674390	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
SYCP2	10388	broad.mit.edu	37	20	58441580	58441580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441580C>T	ENST00000357552.3	-	40	4415	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2			53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		ATTCATTGTTCTCAGATGTTG	0.308000																								0							SO:0001583	missense			ENST00000357552.3	1	1	hg19	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	0.435	-0.901495	0.02453	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.12255	2.7;2.7	5.3	-2.8	0.05823	.	1.000790	0.08062	N	0.998326	T	0.03434	0.0099	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.05721	T	0.95	-0.5713	5.3347	0.15951	0.1098:0.0882:0.5781:0.2239	.	1397	Q9BX26	SYCP2_HUMAN	K	1397;1397;83	ENSP00000360040:R1397K;ENSP00000350162:R1397K	ENSP00000350162:R1397K	R	-	2	0	SYCP2	57874975	0.528000	0.26314	0.005000	0.12908	0.516000	0.34256	0.736000	0.26130	-0.201000	0.10284	-0.484000	0.04775	AGA		TCGA-IB-7651-01A-11D-2154-08	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	1	40	217	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	40	210	0	46	2								-3.035024	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
SYCP2	10388	broad.mit.edu	37	20	58457164	58457164	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58457164A>C	ENST00000357552.3	-	27	2811	c.2586T>G	c.(2584-2586)acT>acG	p.T862T	SYCP2_ENST00000371001.2_Silent_p.T862T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2			53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		GGCATTCAGAAGTAACATTAA	0.289000																								0							SO:0001819	synonymous_variant			ENST00000357552.3	1	1	hg19	CCDS13482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	0	10	166	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.969672e-01	10	164	0	48	2								-4.874542	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.700000	0.350000	1.000000	1.000000	0.714029	0.700000	0	5.000000e-01	9.600000e-01
SYCP2	10388	broad.mit.edu	37	20	58467404	58467404	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58467404T>G	ENST00000357552.3	-	24	2230	c.2005A>C	c.(2005-2007)Aaa>Caa	p.K669Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2			53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		TATTTCACTTTTCCTGTTCCT	0.279000																								0							SO:0001583	missense			ENST00000357552.3	1	1	hg19	CCDS13482.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	3.940	-0.014318	0.07681	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18960	2.44;2.44;2.18	5.23	2.8	0.32819	.	0.728814	0.13007	N	0.421209	T	0.20901	0.0503	L	0.51422	1.61	0.09310	N	1	P	0.48016	0.904	P	0.44897	0.463	T	0.13764	-1.0497	10	0.66056	D	0.02	-5.6591	4.878	0.13665	0.1643:0.0938:0.0:0.7419	.	669	Q9BX26	SYCP2_HUMAN	Q	669	ENSP00000360040:K669Q;ENSP00000350162:K669Q;ENSP00000402456:K669Q	ENSP00000350162:K669Q	K	-	1	0	SYCP2	57900799	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.617000	0.24359	0.930000	0.37217	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	0	0	13	367	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	9.994946e-01	12	361	0	73	2								-13.485490	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.420000	0.230000	1.000000	0.400000	0.454837	0.420000	0	3.100000e-01	5.600000e-01
SYCP2	10388	broad.mit.edu	37	20	58476773	58476773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58476773C>T	ENST00000357552.3	-	16	1351	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2			53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		TCTAGTGATGCGTCAAAATAC	0.274000																								0							SO:0001583	missense			ENST00000357552.3	1	1	hg19	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966788	0.34659	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18810	2.45;2.45;2.19	5.59	1.07	0.20283	.	1.172000	0.06052	N	0.656683	T	0.14743	0.0356	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27498	0.054;0.18	B;B	0.20384	0.013;0.029	T	0.31641	-0.9936	10	0.10636	T	0.68	-0.9909	2.8299	0.05496	0.1196:0.5126:0.129:0.2388	.	376;376	A2A341;Q9BX26	.;SYCP2_HUMAN	T	376	ENSP00000360040:A376T;ENSP00000350162:A376T;ENSP00000402456:A376T	ENSP00000350162:A376T	A	-	1	0	SYCP2	57910168	0.660000	0.27420	0.619000	0.29118	0.977000	0.68977	-0.016000	0.12613	0.309000	0.22966	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	1	0	1	26	134	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	9.999999e-01	24	130	0	54	2								-15.156930	1	1	121346	1	27	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
PPP1R3D	5509	broad.mit.edu	37	20	58514512	58514512	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58514512A>C	ENST00000370996.3	-	1	840	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D			13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		GGCGGCGGGAAATCGGGCACC	0.672000																								0							SO:0001583	missense			ENST00000370996.3	1	1	hg19	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951431	0.92660	.	.	ENSG00000132825	ENST00000370996	T	0.65916	-0.18	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	T	0.78610	0.4310	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81342	-0.0976	10	0.66056	D	0.02	-19.8349	14.9744	0.71261	1.0:0.0:0.0:0.0	.	159	O95685	PPR3D_HUMAN	V	159	ENSP00000360035:F159V	ENSP00000360035:F159V	F	-	1	0	PPP1R3D	57947907	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.064000	0.93933	1.941000	0.56285	0.379000	0.24179	TTC		TCGA-IB-7651-01A-11D-2154-08	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	1	0	1	46	163	0	26	1	8.441276e-01	4	10	0	26	2		0	0	0	0	0	2	1	1	46	160	0	26	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH26	60437	broad.mit.edu	37	20	58562651	58562651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58562651G>A	ENST00000244047.5	+	8	1292	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CDH26_ENST00000348616.4_Silent_p.S327S			Q8IXH8	CAD26_HUMAN	cadherin 26			44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		TTGACATTTCGACTGACCCTG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000244047.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CDH26-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	68	319	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	66	309	0	94	2								-3.375833	1	1	121412	4	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH26	60437	broad.mit.edu	37	20	58569416	58569416	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569416C>T	ENST00000244047.5	+	11	1849	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.A513V|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26			44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		TGTGAGTCTGCTGTGCATGAG	0.552000																								0							SO:0001583	missense			ENST00000244047.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.08	2.429050	0.43122	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61392	0.11;0.11	4.58	1.06	0.20224	Cadherin-like (2);	0.881551	0.09841	N	0.748865	T	0.50086	0.1595	M	0.66939	2.045	0.09310	N	1	B;B	0.29612	0.251;0.22	B;B	0.29524	0.07;0.103	T	0.44787	-0.9305	10	0.40728	T	0.16	.	3.5879	0.07978	0.2297:0.5454:0.1225:0.1023	.	513;513	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	V	513	ENSP00000244047:A513V;ENSP00000339390:A513V	ENSP00000244047:A513V	A	+	2	0	CDH26	58002811	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.409000	0.21082	0.341000	0.23771	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CDH26-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	51	246	0	63	0	3.072464e-02	0	2	0	63	2		0	0	0	0	0	2	1	1	50	245	0	62	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH26	60437	broad.mit.edu	37	20	58569448	58569448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569448G>A	ENST00000244047.5	+	11	1881	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.D524N|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26			44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		CGAGGCAGAGGATCCGGACCT	0.547000																								0							SO:0001583	missense			ENST00000244047.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.0	4.089308	0.76756	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.78003	-1.14;-1.14	4.35	3.4	0.38934	Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.88731	0.6516	M	0.89715	3.055	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81136	-0.1070	10	0.87932	D	0	.	10.9183	0.47150	0.0947:0.0:0.9053:0.0	.	524;524	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	N	524	ENSP00000244047:D524N;ENSP00000339390:D524N	ENSP00000244047:D524N	D	+	1	0	CDH26	58002843	0.998000	0.40836	0.003000	0.11579	0.370000	0.29829	4.005000	0.57075	0.809000	0.34255	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	CDH26-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	16	253	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	9.999389e-01	16	252	0	56	2								-19.090390	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.720000	0.420000	1.000000	1.000000	0.735555	0.720000	0	5.500000e-01	9.300000e-01
CDH26	60437	broad.mit.edu	37	20	58569449	58569449	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569449A>C	ENST00000244047.5	+	11	1882	c.1571A>C	c.(1570-1572)gAt>gCt	p.D524A	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.D524A|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26			44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		GAGGCAGAGGATCCGGACCTG	0.547000																								0							SO:0001583	missense			ENST00000244047.5	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.38|17.38	3.375377|3.375377	0.61735|0.61735	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.78003|.	-1.14;-1.14|.	4.35|4.35	2.08|2.08	0.27032|0.27032	Cadherin-like (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.63581|0.63581	0.2523|0.2523	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	0.999992|0.999992	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.56074|0.56074	-0.8039|-0.8039	10|5	0.87932|.	D|.	0|.	.|.	7.9154|7.9154	0.29814|0.29814	0.8363:0.0:0.1637:0.0|0.8363:0.0:0.1637:0.0	.|.	524;524|.	Q8IXH8;Q8IXH8-4|.	CAD26_HUMAN;.|.	A|L	524|116	ENSP00000244047:D524A;ENSP00000339390:D524A|.	ENSP00000244047:D524A|.	D|I	+|+	2|1	0|0	CDH26|CDH26	58002844|58002844	0.993000|0.993000	0.37304|0.37304	0.001000|0.001000	0.08648|0.08648	0.389000|0.389000	0.30415|0.30415	3.650000|3.650000	0.54424|0.54424	0.111000|0.111000	0.17947|0.17947	0.533000|0.533000	0.62120|0.62120	GAT|ATC		TCGA-IB-7651-01A-11D-2154-08	CDH26-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	35	235	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	35	234	0	56	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999655	0.990000	1	9.900000e-01	1
TRMT6	51605	broad.mit.edu	37	20	5927132	5927132	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5927132C>T	ENST00000203001.2	-	2	306	c.176G>A	c.(175-177)gGc>gAc	p.G59D	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	p.G59V(1)		15					ATAACTATGGCCAATGACGTT	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000203001.2	1	1	hg19	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742387	0.89573	.	.	ENSG00000089195	ENST00000203001	T	0.48201	0.82	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74432	-0.3667	10	0.59425	D	0.04	-8.7611	16.4517	0.83993	0.0:0.8686:0.1314:0.0	.	59	Q9UJA5	TRM6_HUMAN	D	59	ENSP00000203001:G59D	ENSP00000203001:G59D	G	-	2	0	TRMT6	5875132	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	1.357000	0.45904	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2	1	0	1	29	376	0	63	1	9.516715e-01	7	60	0	63	2		0	0	0	0	0	2	1	1	26	371	0	63	2								-8.123458	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.850000	0.580000	1.000000	1.000000	0.852199	0.850000	1	7.100000e-01	1
MCM8	84515	broad.mit.edu	37	20	5933149	5933149	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5933149A>C	ENST00000378896.3	+	3	605	c.228A>C	c.(226-228)aaA>aaC	p.K76N	MCM8_ENST00000378883.1_Missense_Mutation_p.K76N|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N|TRMT6_ENST00000203001.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000378886.2_Missense_Mutation_p.K76N|TRMT6_ENST00000453074.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8			23					TACCATATAAAGGCTGGAAGC	0.338000																								0							SO:0001583	missense			ENST00000378896.3	1	1	hg19	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914769	0.72983	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	6.07	2.69	0.31865	.	0.098121	0.64402	D	0.000002	T	0.35653	0.0939	M	0.75447	2.3	0.58432	D	0.999995	P;P;B;B	0.41597	0.677;0.756;0.338;0.251	B;B;B;B	0.38106	0.265;0.209;0.224;0.136	T	0.17930	-1.0353	10	0.52906	T	0.07	-16.8494	8.8479	0.35181	0.7028:0.0:0.2972:0.0	.	76;76;76;76	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	N	76	ENSP00000368174:K76N;ENSP00000368161:K76N;ENSP00000368164:K76N;ENSP00000265187:K76N	ENSP00000265187:K76N	K	+	3	2	MCM8	5881149	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.842000	0.48230	0.554000	0.29061	-0.250000	0.11733	AAA		TCGA-IB-7651-01A-11D-2154-08	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	1	0	1	150	653	0	155	1	7.994743e-01	6	9	0	155	2		0	0	0	0	0	2	1	1	148	648	0	155	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM8	84515	broad.mit.edu	37	20	5966674	5966674	+	Missense_Mutation	SNP	G	G	A	rs149433613	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5966674G>A	ENST00000378896.3	+	16	2437	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8			23					GAAGCTGCTCGAGTTCTTCAA	0.468000																								0							SO:0001583	missense			ENST00000378896.3	1	0	hg19	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	9.409	1.079986	0.20309	2.27E-4	2.33E-4	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.65	5.65	0.86999	.	0.054667	0.64402	N	0.000001	T	0.01835	0.0058	N	0.00566	-1.37	0.22401	N	0.999133	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.43228	-0.9404	10	0.06625	T	0.88	-7.1168	11.9878	0.53157	0.9323:0.0:0.0677:0.0	.	640;727;671;687	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	687;640;727;671	ENSP00000368174:R687Q;ENSP00000368161:R640Q;ENSP00000368164:R727Q;ENSP00000265187:R671Q	ENSP00000265187:R671Q	R	+	2	0	MCM8	5914674	1.000000	0.71417	0.975000	0.42487	0.687000	0.40016	6.140000	0.71738	1.081000	0.41110	-0.254000	0.11334	CGA		TCGA-IB-7651-01A-11D-2154-08	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	1	0	1	80	378	0	82	1	8.227499e-01	5	12	0	82	2		0	0	0	0	0	2	1	1	78	372	0	82	2								-2.739832	1	1	121412	56	51	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM8	84515	broad.mit.edu	37	20	5974312	5974312	+	Missense_Mutation	SNP	C	C	T	rs147649536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5974312C>T	ENST00000378896.3	+	18	2778	c.2401C>T	c.(2401-2403)Cgg>Tgg	p.R801W	MCM8_ENST00000378883.1_Missense_Mutation_p.R754W|MCM8_ENST00000265187.4_Missense_Mutation_p.R785W|MCM8_ENST00000378886.2_Missense_Mutation_p.R841W	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8			23					TCATCAACTTCGGCAGATTGC	0.318000																								0							SO:0001583	missense			ENST00000378896.3	0	1	hg19	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513050	0.64522	2.27E-4	0.0	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03181	4.08;4.02;4.09;4.08	5.69	4.72	0.59763	.	0.060767	0.64402	D	0.000002	T	0.10981	0.0268	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.65815	0.992;0.995;0.987;0.986	P;P;P;P	0.51229	0.663;0.582;0.54;0.453	T	0.05550	-1.0878	10	0.39692	T	0.17	-7.6747	15.8853	0.79244	0.1364:0.8636:0.0:0.0	.	754;841;785;801	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	W	801;754;841;785	ENSP00000368174:R801W;ENSP00000368161:R754W;ENSP00000368164:R841W;ENSP00000265187:R785W	ENSP00000265187:R785W	R	+	1	2	MCM8	5922312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.514000	0.60482	1.349000	0.45751	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	0	0	0	7	295	0	56	0	7.679598e-02	1	16	0	56	2		0	0	0	0	0	2	1	9.795072e-01	7	289	0	56	2								-2.974815	1	1	121406	3	32	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.290000	0.120000	1.000000	0.270000	0.338888	0.290000	0	1.900000e-01	4.400000e-01
LRRN4	164312	broad.mit.edu	37	20	6022053	6022053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022053C>T	ENST00000378858.4	-	5	2062	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4			27					CGCAGAGTAGCGGATCTGGTA	0.701000																								0							SO:0001583	missense			ENST00000378858.4	0	1	hg19	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	5.462	0.270375	0.10349	.	.	ENSG00000125872	ENST00000378858	T	0.58210	0.35	5.13	-4.69	0.03299	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.366150	0.04518	N	0.384017	T	0.27697	0.0681	N	0.16368	0.405	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.09930	-1.0652	10	0.14252	T	0.57	-11.1259	2.1932	0.03905	0.1663:0.2844:0.095:0.4544	.	613	Q8WUT4	LRRN4_HUMAN	H	613	ENSP00000368135:R613H	ENSP00000368135:R613H	R	-	2	0	LRRN4	5970053	0.000000	0.05858	0.465000	0.27155	0.520000	0.34377	-1.726000	0.01861	-0.429000	0.07329	-0.258000	0.10820	CGC		TCGA-IB-7651-01A-11D-2154-08	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	0	0	0	8	426	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	9.891048e-01	8	422	0	76	2								-7.180867	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.230000	0.100000	1.000000	0.210000	0.277055	0.230000	0	1.600000e-01	3.400000e-01
LRRN4	164312	broad.mit.edu	37	20	6022592	6022592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022592C>T	ENST00000378858.4	-	5	1523	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4			27					CAGAGTTGGTCGTGGAGGGGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000378858.4	1	1	hg19	CCDS13097.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	1	0	1	84	332	0	73	0	1.079214e-01	0	3	0	73	2		0	0	0	0	0	2	1	1	82	326	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRN4	164312	broad.mit.edu	37	20	6031566	6031566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6031566C>T	ENST00000378858.4	-	3	943	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4			27					GGTCGTCAGCCGAGGCATCTT	0.557000																								0							SO:0001583	missense			ENST00000378858.4	0	1	hg19	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253455	0.39797	.	.	ENSG00000125872	ENST00000378858	T	0.57907	0.37	5.68	2.71	0.32032	.	0.462660	0.21634	N	0.071421	T	0.29945	0.0749	N	0.21097	0.63	0.27634	N	0.947921	B;B	0.33000	0.393;0.185	B;B	0.22601	0.04;0.012	T	0.11179	-1.0598	10	0.33940	T	0.23	-10.6573	5.7998	0.18408	0.1248:0.6111:0.0:0.264	.	240;240	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	Q	240	ENSP00000368135:R240Q	ENSP00000368135:R240Q	R	-	2	0	LRRN4	5979566	0.059000	0.20769	0.998000	0.56505	0.678000	0.39670	0.198000	0.17217	0.347000	0.23924	-0.320000	0.08662	CGG		TCGA-IB-7651-01A-11D-2154-08	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	0	0	0	8	294	0	50	0	9.706644e-04	0	2	0	50	2		0	0	0	0	0	2	1	9.877590e-01	8	282	0	50	2								-3.576764	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.330000	0.150000	1.000000	0.310000	0.375377	0.330000	0	2.300000e-01	4.800000e-01
CDH4	1002	broad.mit.edu	37	20	60448855	60448855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60448855C>T	ENST00000360469.5	+	7	1037	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CDH4_ENST00000543233.1_Missense_Mutation_p.R243W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)			74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		GGTGCGGTACCGGATCGTGAC	0.612000																								0							SO:0001583	missense			ENST00000360469.5	0	1	hg19	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093340	0.56075	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54071	0.59;0.59	4.92	2.9	0.33743	Cadherin (4);Cadherin-like (1);	0.055234	0.85682	D	0.000000	T	0.71779	0.3380	M	0.80183	2.485	0.50171	D	0.999858	D	0.89917	1.0	D	0.76575	0.988	T	0.73379	-0.4001	9	.	.	.	.	14.1152	0.65149	0.2429:0.7571:0.0:0.0	.	317	P55283	CADH4_HUMAN	W	317;225;243	ENSP00000353656:R317W;ENSP00000443301:R243W	.	R	+	1	2	CDH4	59882250	1.000000	0.71417	0.947000	0.38551	0.585000	0.36419	1.340000	0.33896	0.435000	0.26365	0.585000	0.79938	CGG		TCGA-IB-7651-01A-11D-2154-08	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	0	0	0	11	579	0	88	0	0	0	1	0	88	2		0	0	0	0	0	2	1	9.981379e-01	11	566	0	87	2								-2.903243	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.230000	0.110000	1.000000	0.220000	0.273567	0.230000	0	1.600000e-01	3.200000e-01
CDH4	1002	broad.mit.edu	37	20	60498707	60498707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60498707G>A	ENST00000360469.5	+	10	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)			74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		CCCCGGCACCGTGCTGACCAC	0.632000																								0							SO:0001583	missense			ENST00000360469.5	1	1	hg19	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238671	0.22711	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.256554	0.39834	N	0.001260	T	0.29620	0.0739	N	0.12637	0.245	0.09310	N	1	P	0.42518	0.782	B	0.39617	0.305	T	0.13845	-1.0494	9	.	.	.	.	13.434	0.61073	0.0:0.1577:0.8423:0.0	.	525	P55283	CADH4_HUMAN	M	525;433;451	ENSP00000353656:V525M;ENSP00000443301:V451M	.	V	+	1	0	CDH4	59932102	0.012000	0.17670	0.742000	0.31022	0.778000	0.44026	2.000000	0.40816	2.162000	0.67917	0.543000	0.68304	GTG		TCGA-IB-7651-01A-11D-2154-08	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	1	0	1	50	150	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	1	50	150	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH4	1002	broad.mit.edu	37	20	60504709	60504709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504709C>T	ENST00000360469.5	+	13	2136	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)			74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		TACCTGGAGGCCGGGATGTAT	0.542000																								0							SO:0001583	missense			ENST00000360469.5	1	1	hg19	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511956	0.27036	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60299	0.2;0.2	4.14	4.14	0.48551	Cadherin (3);Cadherin-like (1);	0.060746	0.64402	D	0.000004	T	0.42810	0.1219	L	0.45051	1.395	0.41343	D	0.987315	P	0.38582	0.638	B	0.28385	0.089	T	0.42050	-0.9474	9	.	.	.	.	11.6549	0.51313	0.1776:0.8224:0.0:0.0	.	683	P55283	CADH4_HUMAN	V	683;591;609	ENSP00000353656:A683V;ENSP00000443301:A609V	.	A	+	2	0	CDH4	59938104	0.197000	0.23362	0.863000	0.33907	0.943000	0.58893	2.334000	0.43920	1.855000	0.53841	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	1	0	0	27	396	0	90	0	0	0	1	0	90	2		0	0	0	0	0	2	1	1	27	392	0	90	2								-7.037497	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.760000	0.510000	1.000000	1.000000	0.776964	0.760000	0	6.300000e-01	9.400000e-01
TAF4	6874	broad.mit.edu	37	20	60575234	60575234	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60575234C>A	ENST00000252996.4	-	11	2732	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa			37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		CTACAAGATTCTGTAGCCTTT	0.408000																								0							SO:0001583	missense			ENST00000252996.4	1	1	hg19	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220788	0.58560	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25912	1.77;1.77	4.7	1.66	0.24008	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.070768	0.64402	D	0.000019	T	0.32704	0.0838	L	0.38531	1.155	0.58432	D	0.999999	D	0.71674	0.998	D	0.70935	0.971	T	0.08046	-1.0741	10	0.72032	D	0.01	-11.4158	5.8129	0.18475	0.0:0.508:0.0:0.492	.	911	O00268	TAF4_HUMAN	H	911;775	ENSP00000252996:Q911H;ENSP00000399091:Q775H	ENSP00000252996:Q911H	Q	-	3	2	TAF4	60008629	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	0.964000	0.29306	0.969000	0.38237	-0.258000	0.10820	CAG		TCGA-IB-7651-01A-11D-2154-08	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	1	0	1	63	334	0	71	1	9.882821e-01	11	28	0	71	2		0	0	0	0	0	2	1	1	63	332	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF4	6874	broad.mit.edu	37	20	60581569	60581569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60581569C>T	ENST00000252996.4	-	7	2219	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa			37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		TCCATACCAGCGGTGTGGGTT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000252996.4	0	1	hg19	CCDS33500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	1	0	1	9	75	0	19	1	5.755423e-01	3	14	0	19	2		0	0	0	0	0	2	1	9.950648e-01	9	75	0	19	2								-15.441990	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.640000	1.000000	1.000000	0.962280	0.990000	1	9.200000e-01	1
TAF4	6874	broad.mit.edu	37	20	60585189	60585189	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60585189C>T	ENST00000252996.4	-	4	1673	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa			37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		CAAGTGAAGCCGTCTGGGCAG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000252996.4	1	1	hg19	CCDS33500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	1	0	1	52	335	0	83	1	8.495809e-01	7	17	0	83	2		0	0	0	0	0	2	1	1	52	324	0	83	2								-20.000000	1	1	121412	7	40	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
FERMT1	55612	broad.mit.edu	37	20	6077578	6077578	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6077578G>A	ENST00000217289.4	-	8	1848	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	FERMT1_ENST00000536936.1_Silent_p.L97L|FERMT1_ENST00000478194.1_5'Flank	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1			17					CCACCTTCTAGGGTTACTTCC	0.423000																								0							SO:0001819	synonymous_variant			ENST00000217289.4	1	1	hg19	CCDS13098.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	1	0	0	214	880	0	206	1	1	92	32	0	206	2		0	0	0	0	0	2	1	1	214	863	0	203	2								-2.820120	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL2	9885	broad.mit.edu	37	20	60861650	60861650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60861650C>T	ENST00000313733.3	+	11	1210	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	OSBPL2_ENST00000358053.2_Silent_p.S324S|OSBPL2_ENST00000439951.2_Silent_p.S244S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2			17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		ATGAAGACTCCGGGAAGGCTG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000313733.3	1	1	hg19	CCDS13495.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	1	0	1	182	770	0	119	1	1	72	153	0	119	2		0	0	0	0	0	2	1	1	174	747	0	117	2								-2.794839	1	1	121412	3	39	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL2	9885	broad.mit.edu	37	20	60864297	60864297	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60864297A>G	ENST00000313733.3	+	12	1362	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2			17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		GTGAGCCTCAACGAGCTGGAG	0.582000																								0							SO:0001583	missense			ENST00000313733.3	1	1	hg19	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444091	0.83993	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.52983	0.64;0.64	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84747	0.0754	10	0.87932	D	0	-8.5733	13.2847	0.60237	1.0:0.0:0.0:0.0	.	375;387	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	S	375;387	ENSP00000350755:N375S;ENSP00000316649:N387S	ENSP00000316649:N387S	N	+	2	0	OSBPL2	60297692	1.000000	0.71417	0.612000	0.29024	0.971000	0.66376	9.136000	0.94489	1.686000	0.51046	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	1	0	1	15	104	0	28	1	9.999988e-01	57	138	0	28	2		0	0	0	0	0	2	1	9.998958e-01	15	102	0	28	2								-19.999920	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.880000	1.000000	1.000000	0.993294	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60893902	60893902	+	Silent	SNP	T	T	G	rs111438443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60893902T>G	ENST00000252999.3	-	52	7105	c.7039A>C	c.(7039-7041)Aga>Cga	p.R2347R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		CACTCACATCTCTGTGCTGCA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000252999.3	0	0	hg19	CCDS33502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1	18	97	0	16	1	9.982729e-01	25	35	0	16	2		0	0	0	0	0	2	1	9.999853e-01	18	93	0	16	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999387	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60895841	60895841	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60895841G>T	ENST00000252999.3	-	49	6668	c.6602C>A	c.(6601-6603)gCc>gAc	p.A2201D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		ACGGGCCCAGGCCATGGAGCT	0.667000																								0							SO:0001583	missense			ENST00000252999.3	1	1	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	20.4	3.990041	0.74589	.	.	ENSG00000130702	ENST00000252999	T	0.12255	2.7	4.53	3.57	0.40892	Laminin I (1);	0.109081	0.64402	D	0.000008	T	0.30603	0.0770	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.03175	-1.1064	10	0.72032	D	0.01	.	13.0309	0.58840	0.0797:0.0:0.9203:0.0	.	2201	O15230	LAMA5_HUMAN	D	2201	ENSP00000252999:A2201D	ENSP00000252999:A2201D	A	-	2	0	LAMA5	60329236	1.000000	0.71417	0.988000	0.46212	0.390000	0.30446	6.143000	0.71756	1.119000	0.41883	0.537000	0.68136	GCC		TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1	51	231	0	45	1	9.999870e-01	13	66	0	45	2		0	0	0	0	0	2	1	1	50	225	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60900582	60900582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60900582C>T	ENST00000252999.3	-	41	5385	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		TGTTGCGCGTCTCCGTATGCC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000252999.3	1	1	hg19	CCDS33502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	0	24	154	0	26	1	9.998155e-01	8	84	0	26	2		0	0	0	0	0	2	1	9.999998e-01	24	153	0	26	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999094	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60902965	60902965	+	Missense_Mutation	SNP	G	G	A	rs74781811	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60902965G>A	ENST00000252999.3	-	36	4820	c.4754C>T	c.(4753-4755)gCg>gTg	p.A1585V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		CACGCCAGGCGCAGTGCCCGC	0.657000																								0							SO:0001583	missense			ENST00000252999.3	1	0	hg19	CCDS33502.1	42	0.019230769230769232	36	0.07317073170731707	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	G	0.028	-1.357091	0.01245	0.044566	0.007924	ENSG00000130702	ENST00000252999	T	0.53206	0.63	4.62	-1.86	0.07760	EGF-like, laminin (3);	0.371325	0.29015	N	0.013402	T	0.00906	0.0030	N	0.00996	-1.065	0.09310	N	1	B	0.21309	0.054	B	0.13407	0.009	T	0.18209	-1.0344	10	0.28530	T	0.3	.	5.2917	0.15731	0.5559:0.0:0.1969:0.2473	.	1585	O15230	LAMA5_HUMAN	V	1585	ENSP00000252999:A1585V	ENSP00000252999:A1585V	A	-	2	0	LAMA5	60336360	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.411000	0.21115	-0.194000	0.10399	-0.972000	0.02603	GCG		TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	0	1	91	285	1	58	1	9.999165e-01	47	40	1	58	7		0	0	0	0	0	2	1	1	91	279	1	57	20								-1.725456	0	0	120886	1068	62	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60903983	60903983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60903983C>T	ENST00000252999.3	-	34	4430	c.4364G>A	c.(4363-4365)gGc>gAc	p.G1455D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		GGGACACTGGCCCCCGAAGGG	0.627000																								0							SO:0001583	missense			ENST00000252999.3	1	1	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515262	0.85389	.	.	ENSG00000130702	ENST00000252999	T	0.75589	-0.95	4.47	3.49	0.39957	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92980	0.6405	10	0.87932	D	0	.	13.4219	0.61003	0.1586:0.8414:0.0:0.0	.	1455	O15230	LAMA5_HUMAN	D	1455	ENSP00000252999:G1455D	ENSP00000252999:G1455D	G	-	2	0	LAMA5	60337378	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.245000	0.78237	0.794000	0.33899	0.455000	0.32223	GGC		TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1	77	289	0	59	1	9.999996e-01	31	52	0	59	2		0	0	0	0	0	2	1	1	76	285	0	59	2								-3.754827	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60906108	60906108	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60906108G>A	ENST00000252999.3	-	29	3696	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		CAAAGGCGCCGTGGCTGCTGA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000252999.3	1	1	hg19	CCDS33502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	0	23	87	0	24	1	9.999915e-01	16	64	0	24	2		0	0	0	0	0	2	1	9.999997e-01	22	87	0	24	2								-20.000000	1	1	120666	2	29	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
FERMT1	55612	broad.mit.edu	37	20	6091159	6091159	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6091159C>A	ENST00000217289.4	-	5	1321		c.e5-1		FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1			17					CCAGGACTTACTGCAAGGCAG	0.383000																								0							SO:0001630	splice_region_variant			ENST00000217289.4	1	1	hg19	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943291	0.53079	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT1	6039159	1.000000	0.71417	0.999000	0.59377	0.614000	0.37383	5.684000	0.68197	2.756000	0.94617	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	1	0	1	107	369	0	107	1	3.167544e-01	4	1	0	107	2		0	0	0	0	0	2	1	1	104	357	0	107	2								-4.391917	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60913186	60913186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60913186C>A	ENST00000252999.3	-	14	1843	c.1777G>T	c.(1777-1779)Gga>Tga	p.G593*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		GGCAAGGTTCCTGCAGGGCTG	0.672000																								0							SO:0001587	stop_gained			ENST00000252999.3	0	1	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406667	0.97542	.	.	ENSG00000130702	ENST00000252999	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7301	0.57193	0.0:0.9138:0.0:0.0862	.	.	.	.	X	593	.	ENSP00000252999:G593X	G	-	1	0	LAMA5	60346581	1.000000	0.71417	0.933000	0.37362	0.047000	0.14425	6.650000	0.74368	2.456000	0.83038	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1	19	65	0	17	1	9.999716e-01	10	58	0	17	2		0	0	0	0	0	2	1	9.999963e-01	19	65	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60921612	60921612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60921612C>T	ENST00000252999.3	-	9	1298	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	LAMA5_ENST00000370692.3_Missense_Mutation_p.G411D|LAMA5_ENST00000370677.3_Missense_Mutation_p.G411D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		GCGGTAGAAGCCGGGCAGGCA	0.687000																								0							SO:0001583	missense			ENST00000252999.3	0	1	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942024	0.73557	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.66995	-0.24;-0.24;-0.24	4.63	4.63	0.57726	EGF-like, laminin (4);	0.111433	0.64402	D	0.000009	D	0.85902	0.5805	M	0.92970	3.365	0.54753	D	0.999987	D	0.89917	1.0	D	0.80764	0.994	D	0.89939	0.4071	10	0.72032	D	0.01	.	17.4691	0.87641	0.0:1.0:0.0:0.0	.	411	O15230	LAMA5_HUMAN	D	411	ENSP00000252999:G411D;ENSP00000359726:G411D;ENSP00000359711:G411D	ENSP00000252999:G411D	G	-	2	0	LAMA5	60355007	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	3.287000	0.51732	2.117000	0.64856	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	0	0	6	42	0	11	1	9.981834e-01	53	47	0	11	2		0	0	0	0	0	2	1	9.683490e-01	6	42	0	11	2								-6.525565	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.630000	1.000000	1.000000	0.965907	0.990000	1	9.600000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60922054	60922054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60922054G>A	ENST00000252999.3	-	7	1053	c.987C>T	c.(985-987)tgC>tgT	p.C329C	LAMA5_ENST00000370692.3_Silent_p.C329C|LAMA5_ENST00000370677.3_Silent_p.C329C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		AGGTGCCCCCGCAGGTGTTGT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000252999.3	1	1	hg19	CCDS33502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1	35	169	0	38	1	9.998171e-01	33	34	0	38	2		0	0	0	0	0	2	1	1	35	162	0	37	2								-20.000000	1	1	120806	5	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60926993	60926993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60926993G>A	ENST00000252999.3	-	5	896	c.830C>T	c.(829-831)gCg>gTg	p.A277V	RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V|LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000477848.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		GTCCCGCAGCGCCTTCCCCAT	0.697000																								0							SO:0001583	missense			ENST00000252999.3	1	1	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	34	5.382019	0.95967	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.36878	2.08;1.23;1.33	4.24	4.24	0.50183	Laminin, N-terminal (3);	0.117957	0.56097	U	0.000021	T	0.49115	0.1538	L	0.35341	1.055	0.54753	D	0.999988	D	0.89917	1.0	D	0.71414	0.973	T	0.54899	-0.8224	10	0.72032	D	0.01	.	16.6321	0.85036	0.0:0.0:1.0:0.0	.	277	O15230	LAMA5_HUMAN	V	277	ENSP00000252999:A277V;ENSP00000359726:A277V;ENSP00000359711:A277V	ENSP00000252999:A277V	A	-	2	0	LAMA5	60360388	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.737000	0.98831	1.915000	0.55452	0.486000	0.48141	GCG		TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	1	26	92	0	25	1	9.999911e-01	33	40	0	25	2		0	0	0	0	0	2	1	1	25	90	0	24	2								-20.000000	1	1	120392	1	30	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LAMA5	3911	broad.mit.edu	37	20	60927304	60927304	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60927304G>A	ENST00000252999.3	-	4	747	c.681C>T	c.(679-681)aaC>aaT	p.N227N	RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370692.3_Silent_p.N227N|LAMA5_ENST00000370677.3_Silent_p.N227N|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000477848.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		ccacctctccGTTCTCCAGGG	0.692000																								0							SO:0001819	synonymous_variant			ENST00000252999.3	1	1	hg19	CCDS33502.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	1	0	0	46	118	0	29	1	1	18	85	0	29	2		0	0	0	0	0	2	1	1	46	116	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO4A1	28231	broad.mit.edu	37	20	61303134	61303134	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61303134C>T	ENST00000370507.1	+	11	2154	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	SLCO4A1_ENST00000217159.1_Silent_p.C686C			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1			21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)	Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCATAGCCTGCTTCTTATACA	0.607000													Pancreas(168;741 2006 10379 40139 45334)											0							SO:0001819	synonymous_variant			ENST00000370507.1	1	1	hg19	CCDS13501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	0	0	0	71	824	0	144	1	9.999807e-01	34	143	0	144	2		0	0	0	0	0	2	1	1	73	806	0	144	2								-15.932420	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.940000	0.740000	1.000000	1.000000	0.926725	0.940000	1	8.300000e-01	1
OGFR	11054	broad.mit.edu	37	20	61443875	61443875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61443875C>T	ENST00000290291.6	+	7	933	c.908C>T	c.(907-909)cCg>cTg	p.P303L	OGFR_ENST00000370461.1_Missense_Mutation_p.P251L	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor			17	Breast(26;3.65e-08)				CTGCCCCATCCGCTCGAGGGC	0.677000																								0							SO:0001583	missense			ENST00000290291.6	1	1	hg19	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268057	0.23136	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.41758	1.97;0.99;1.53	4.31	-3.48	0.04739	.	0.418121	0.17082	N	0.187748	T	0.17704	0.0425	N	0.17474	0.49	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.06770	-1.0808	10	0.48119	T	0.1	-2.4852	0.6694	0.00856	0.3498:0.1736:0.1162:0.3604	.	303;286;303	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	L	303;303;303;158;251	ENSP00000290291:P303L;ENSP00000359499:P303L;ENSP00000359491:P251L	ENSP00000290291:P303L	P	+	2	0	OGFR	60914320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.640000	0.02009	-0.506000	0.06558	-1.036000	0.02392	CCG		TCGA-IB-7651-01A-11D-2154-08	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1	1	0	0	12	43	0	12	1	9.999995e-01	35	99	0	12	2		0	0	0	0	0	2	1	9.994129e-01	12	42	0	12	2								-19.999850	1	1	119090	7	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999566	0.990000	1	9.900000e-01	1
TCFL5	10732	broad.mit.edu	37	20	61488887	61488887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61488887G>A	ENST00000335351.3	-	4	1190	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	TCFL5_ENST00000217162.5_Silent_p.G318G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	p.G366G(1)		9	Breast(26;5.68e-08)				TGGCACCTTCGCCCACATTCT	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000335351.3	1	1	hg19	CCDS13506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	1	0	1	114	496	0	105	1	9.992355e-01	8	40	0	105	2		0	0	0	0	0	2	1	1	112	488	0	105	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61511392	61511392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61511392G>A	ENST00000266070.4	-	16	6241	c.5916C>T	c.(5914-5916)gtC>gtT	p.V1972V	DIDO1_ENST00000395343.1_Silent_p.V1972V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				GTGGTGAATGGACCCTCTGGT	0.562000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001819	synonymous_variant			ENST00000266070.4	1	1	hg19	CCDS33506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	0	1	251	1170	0	260	1	9.999569e-01	18	49	0	260	2		0	0	0	0	0	2	1	1	249	1157	0	256	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61512121	61512121	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512121G>A	ENST00000266070.4	-	16	5512	c.5187C>T	c.(5185-5187)ccC>ccT	p.P1729P	DIDO1_ENST00000395343.1_Silent_p.P1729P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				TGCCCTCGCCGGGTCTGGCCT	0.637000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001819	synonymous_variant			ENST00000266070.4	1	1	hg19	CCDS33506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	147	592	0	131	1	9.999515e-01	17	42	0	131	2		0	0	0	0	0	2	1	1	145	585	0	130	2								-3.005211	1	0	121348	4	40	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61512142	61512142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512142G>A	ENST00000266070.4	-	16	5491	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	DIDO1_ENST00000395343.1_Silent_p.D1722D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				GTGGCTCTCTGTCCCCCTCTG	0.647000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001819	synonymous_variant			ENST00000266070.4	1	1	hg19	CCDS33506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	0	0	122	593	1	137	1	9.902278e-01	15	32	1	137	3		0	0	0	0	0	2	1	1	122	584	1	135	18								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61513253	61513253	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513253T>C	ENST00000266070.4	-	16	4380	c.4055A>G	c.(4054-4056)gAc>gGc	p.D1352G	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				CGGCACCCCGTCCTCTGCTGT	0.577000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001583	missense			ENST00000266070.4	1	1	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	9.718	1.158989	0.21454	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	5.4	0.574	0.17368	.	0.754501	0.11133	N	0.596070	T	0.02807	0.0084	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46162	-0.9211	10	0.27082	T	0.32	-12.7922	5.3733	0.16152	0.0:0.3899:0.1524:0.4577	.	1352	Q9BTC0	DIDO1_HUMAN	G	1352	ENSP00000266070:D1352G;ENSP00000378752:D1352G	ENSP00000266070:D1352G	D	-	2	0	DIDO1	60983698	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.089000	0.11180	-0.059000	0.13154	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	172	731	0	145	1	9.999062e-01	18	40	0	145	2		0	0	0	0	0	2	1	1	172	716	0	142	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61513636	61513636	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513636G>A	ENST00000266070.4	-	16	3997	c.3672C>T	c.(3670-3672)gaC>gaT	p.D1224D	DIDO1_ENST00000395343.1_Silent_p.D1224D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				AGGCCGGAACGTCCGCTTCTT	0.532000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001819	synonymous_variant			ENST00000266070.4	1	1	hg19	CCDS33506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	171	654	0	145	1	9.998644e-01	20	31	0	145	2		0	0	0	0	0	2	1	1	164	646	0	141	2								-20.000000	1	1	121410	1	30	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61525063	61525063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525063G>A	ENST00000266070.4	-	12	3381	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F	DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				TGGGTCAGGAGATGAGGATGG	0.488000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001583	missense			ENST00000266070.4	1	1	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277045	0.40294	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13089	2.93;2.93;2.62;2.62	5.95	4.82	0.62117	.	0.220212	0.22789	U	0.055622	T	0.29652	0.0740	M	0.66939	2.045	0.46954	D	0.999263	D;D	0.64830	0.992;0.994	P;P	0.57502	0.822;0.809	T	0.00655	-1.1624	10	0.72032	D	0.01	-45.4857	13.2992	0.60315	0.0851:0.0:0.9149:0.0	.	1019;1019	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	F	1019	ENSP00000266070:S1019F;ENSP00000378752:S1019F;ENSP00000378749:S1019F;ENSP00000378744:S1019F	ENSP00000266070:S1019F	S	-	2	0	DIDO1	60995508	1.000000	0.71417	0.111000	0.21465	0.014000	0.08584	5.485000	0.66850	2.824000	0.97209	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	110	409	0	96	1	9.999977e-01	19	52	0	96	2		0	0	0	0	0	2	1	1	106	400	0	95	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61525105	61525105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525105G>T	ENST00000266070.4	-	12	3339	c.3014C>A	c.(3013-3015)tCt>tAt	p.S1005Y	DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				CACCATCACAGAAGTCAAGAC	0.557000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001583	missense			ENST00000266070.4	1	1	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297133	0.60086	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12672	3.01;3.01;2.66;2.66	5.95	5.95	0.96441	.	0.429288	0.17073	U	0.188086	T	0.26412	0.0645	L	0.57536	1.79	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.54100	0.742;0.556	T	0.11372	-1.0590	10	0.72032	D	0.01	-18.7404	12.7851	0.57500	0.0:0.0:0.8365:0.1635	.	1005;1005	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	1005	ENSP00000266070:S1005Y;ENSP00000378752:S1005Y;ENSP00000378749:S1005Y;ENSP00000378744:S1005Y	ENSP00000266070:S1005Y	S	-	2	0	DIDO1	60995550	0.273000	0.24181	0.008000	0.14137	0.001000	0.01503	3.724000	0.54962	2.824000	0.97209	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	104	475	0	110	1	9.994258e-01	21	31	0	110	2		0	0	0	0	0	2	1	1	102	464	0	110	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61528081	61528081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61528081G>A	ENST00000266070.4	-	7	2181	c.1856C>T	c.(1855-1857)gCa>gTa	p.A619V	DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				CGTTGCCGCTGCAGGTGCCGG	0.642000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001583	missense			ENST00000266070.4	1	1	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634833	0.29068	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.11604	3.11;3.11;2.76;2.76	5.71	-8.92	0.00774	.	0.584787	0.12503	N	0.463129	T	0.05227	0.0139	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.28618	-1.0038	10	0.23891	T	0.37	0.6734	10.4715	0.44640	0.519:0.2212:0.2597:0.0	.	619;619	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	V	619	ENSP00000266070:A619V;ENSP00000378752:A619V;ENSP00000378749:A619V;ENSP00000378744:A619V	ENSP00000266070:A619V	A	-	2	0	DIDO1	60998526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-2.225000	0.00724	-0.768000	0.03414	GCA		TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	105	471	0	113	1	9.998189e-01	14	44	0	113	2		0	0	0	0	0	2	1	1	105	463	0	113	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61537393	61537393	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61537393T>C	ENST00000266070.4	-	6	1759	c.1434A>G	c.(1432-1434)acA>acG	p.T478T	DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000370371.4_Silent_p.T478T|DIDO1_ENST00000354665.4_Silent_p.T478T|DIDO1_ENST00000370366.1_Silent_p.T478T|DIDO1_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T|DIDO1_ENST00000370368.1_Silent_p.T478T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				CCTTCTTCACTGTGGTCTCTT	0.488000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001819	synonymous_variant			ENST00000266070.4	0	1	hg19	CCDS33506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	0	0	12	694	0	118	1	5.031635e-01	2	92	0	118	2		0	0	0	0	0	2	1	9.990145e-01	12	681	0	117	2								-8.974365	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.200000	0.100000	1.000000	0.200000	0.252502	0.200000	0	1.500000e-01	2.900000e-01
DIDO1	11083	broad.mit.edu	37	20	61541345	61541345	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61541345T>A	ENST00000266070.4	-	4	1192	c.867A>T	c.(865-867)gaA>gaT	p.E289D	DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				GAAACCATTCTTCACAGCGGT	0.428000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001583	missense			ENST00000266070.4	1	1	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993549	0.54041	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.54	0.131	0.14755	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44097	D	0.000481	T	0.46541	0.1398	L	0.31207	0.915	0.49798	D	0.999824	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.982;0.982;0.975;0.994	T	0.19647	-1.0299	10	0.38643	T	0.18	-43.9968	11.2889	0.49239	0.0:0.4749:0.0:0.5251	.	289;289;289;289	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	D	289	ENSP00000266070:E289D;ENSP00000378752:E289D;ENSP00000378749:E289D;ENSP00000378744:E289D;ENSP00000359397:E289D;ENSP00000359394:E289D;ENSP00000346692:E289D;ENSP00000359391:E289D;ENSP00000266071:E289D	ENSP00000266070:E289D	E	-	3	2	DIDO1	61011790	0.845000	0.29573	0.996000	0.52242	0.145000	0.21501	-0.014000	0.12656	-0.161000	0.10983	-0.366000	0.07423	GAA		TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	87	304	0	78	1	9.999996e-01	16	61	0	78	2		0	0	0	0	0	2	1	1	85	297	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61542332	61542332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542332G>A	ENST00000266070.4	-	3	958	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G|DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	p.G211G(1)		99	Breast(26;5.68e-08)				TGGGCAGGACGCCCTCCACAG	0.637000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000266070.4	1	1	hg19	CCDS33506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	76	347	0	75	1	9.999992e-01	16	79	0	75	2		0	0	0	0	0	2	1	1	71	334	0	74	2								-3.216719	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61542497	61542497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542497G>A	ENST00000266070.4	-	3	793	c.468C>T	c.(466-468)agC>agT	p.S156S	DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000370371.4_Silent_p.S156S|DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				TCAGGCCATCGCTGTCACTAT	0.587000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001819	synonymous_variant			ENST00000266070.4	1	1	hg19	CCDS33506.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	0	97	347	0	81	1	9.999983e-01	15	56	0	81	2		0	0	0	0	0	2	1	1	94	343	0	81	2								-4.123245	1	1	121412	2	37	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIDO1	11083	broad.mit.edu	37	20	61542721	61542721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542721G>A	ENST00000266070.4	-	3	569	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W|DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				CCGCGGCGCCGCGCAATGGTC	0.711000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001583	missense			ENST00000266070.4	1	1	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805430	0.50315	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.26223	2.58;2.58;2.27;2.27;1.75;1.75;1.75;1.77;1.77	5.83	3.76	0.43208	.	0.000000	0.38663	U	0.001609	T	0.49133	0.1539	M	0.72118	2.19	0.38829	D	0.955809	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.55309	-0.8161	10	0.87932	D	0	-23.3203	13.2476	0.60031	0.0:0.0:0.5804:0.4196	.	82;82;82;82	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	W	82	ENSP00000266070:R82W;ENSP00000378752:R82W;ENSP00000378749:R82W;ENSP00000378744:R82W;ENSP00000359397:R82W;ENSP00000359394:R82W;ENSP00000346692:R82W;ENSP00000359391:R82W;ENSP00000266071:R82W	ENSP00000266070:R82W	R	-	1	2	DIDO1	61013166	0.997000	0.39634	0.016000	0.15963	0.030000	0.12068	3.413000	0.52686	0.774000	0.33427	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1	46	179	0	38	1	9.321124e-01	2	18	0	38	2		0	0	0	0	0	2	1	1	45	178	0	38	2								-3.707831	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A9	63910	broad.mit.edu	37	20	61594714	61594714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61594714G>A	ENST00000370351.4	+	6	849	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.A234T	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9			23					CCGGAAGCCTGCTGTCTGGTG	0.662000																								0							SO:0001583	missense			ENST00000370351.4	0	1	hg19	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881654	0.51908	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58506	0.33;0.33	4.86	-0.457	0.12186	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169290	0.52532	D	0.000070	T	0.62600	0.2441	M	0.69523	2.12	0.39879	D	0.973615	P;B;B	0.35033	0.481;0.17;0.294	P;P;B	0.48982	0.597;0.474;0.343	T	0.62388	-0.6865	10	0.72032	D	0.01	.	6.8034	0.23764	0.0:0.1911:0.6399:0.169	.	260;240;234	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	T	240;234	ENSP00000359376:A240T;ENSP00000359374:A234T	ENSP00000359374:A234T	A	+	1	0	SLC17A9	61065159	0.865000	0.29922	0.985000	0.45067	0.768000	0.43524	1.349000	0.33998	-0.045000	0.13468	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	1	0	0	28	144	0	18	1	9.819634e-01	8	28	0	18	2		0	0	0	0	0	2	1	1	27	144	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
SLC17A9	63910	broad.mit.edu	37	20	61598818	61598818	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61598818G>T	ENST00000370351.4	+	13	1408	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.R420M	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9			23					CAGGCTCAGAGGGTGGACCTG	0.612000																								0							SO:0001583	missense			ENST00000370351.4	1	1	hg19	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904909	0.72868	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.62941	-0.01;-0.01	4.9	3.95	0.45737	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.81571	-0.0872	10	0.62326	D	0.03	.	13.016	0.58757	0.0785:0.0:0.9215:0.0	.	426;420	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	426;420	ENSP00000359376:R426M;ENSP00000359374:R420M	ENSP00000359374:R420M	R	+	2	0	SLC17A9	61069263	1.000000	0.71417	0.592000	0.28758	0.922000	0.55478	8.223000	0.89779	1.053000	0.40415	0.561000	0.74099	AGG		TCGA-IB-7651-01A-11D-2154-08	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	1	0	0	63	597	0	117	1	9.698655e-01	3	52	0	117	2		0	0	0	0	0	2	1	1	62	584	0	116	2								-2.966611	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.880000	1.000000	1.000000	0.990463	0.990000	1	9.900000e-01	1
BHLHE23	128408	broad.mit.edu	37	20	61637625	61637625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61637625G>T	ENST00000370346.2	-	1	762	c.454C>A	c.(454-456)Ctc>Atc	p.L152I		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23			1					GCCTGCATGAGGATATAGTTC	0.697000																								0							SO:0001583	missense			ENST00000370346.2	1	1	hg19	CCDS33507.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795670	0.70452	.	.	ENSG00000125533	ENST00000370346	D	0.98060	-4.69	3.39	3.39	0.38822	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000002	D	0.96549	0.8874	L	0.28115	0.83	0.80722	D	1	P	0.41366	0.747	P	0.54706	0.759	D	0.95625	0.8684	10	0.37606	T	0.19	-16.4293	13.7577	0.62946	0.0:0.0:1.0:0.0	.	152	Q8NDY6	BHE23_HUMAN	I	152	ENSP00000359371:L152I	ENSP00000359371:L152I	L	-	1	0	BHLHE23	61108070	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.137000	0.64789	1.421000	0.47157	0.491000	0.48974	CTC		TCGA-IB-7651-01A-11D-2154-08	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080095.2	1	0	0	22	142	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	9.999991e-01	22	139	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.998688	0.990000	1	9.900000e-01	1
YTHDF1	54915	broad.mit.edu	37	20	61834989	61834989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61834989G>A	ENST00000370339.3	-	4	644	c.303C>T	c.(301-303)caC>caT	p.H101H	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.H51H	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1			24					AAACAGCATCGTGCATAAAAT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000370339.3	1	1	hg19	CCDS13511.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	1	0	1	81	369	0	81	1	1	54	130	0	81	2		0	0	0	0	0	2	1	1	80	361	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARFGAP1	55738	broad.mit.edu	37	20	61907992	61907992	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61907992T>G	ENST00000370283.4	+	4	471	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	ARFGAP1_ENST00000370275.4_Missense_Mutation_p.F111V|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1			13	all_cancers(38;1.59e-09)				CGCGGCCCTCTTTAGGGATAA	0.562000																								0							SO:0001583	missense			ENST00000370283.4	1	1	hg19	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849298	0.71603	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T;T;T;T	0.54071	0.85;0.59;0.68;0.85;0.85;0.7;0.85;0.85;0.85	4.76	4.76	0.60689	.	0.052580	0.85682	D	0.000000	T	0.65995	0.2745	L	0.52573	1.65	0.80722	D	1	P;D;P;P	0.63046	0.955;0.992;0.791;0.793	P;D;P;P	0.68483	0.902;0.958;0.68;0.683	T	0.69745	-0.5062	10	0.87932	D	0	0.8551	14.5528	0.68078	0.0:0.0:0.0:1.0	.	58;111;111;111	E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	V	111;37;37;58;111;37;111;111;111	ENSP00000359306:F111V;ENSP00000449800:F37V;ENSP00000447037:F37V;ENSP00000430500:F58V;ENSP00000359298:F111V;ENSP00000429674:F37V;ENSP00000314615:F111V;ENSP00000430929:F111V;ENSP00000449515:F111V	ENSP00000314615:F111V	F	+	1	0	ARFGAP1	61378437	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	7.555000	0.82223	1.900000	0.55004	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	1	0	1	36	169	0	34	1	1	42	96	0	34	2		0	0	0	0	0	2	1	1	35	164	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ARFGAP1	55738	broad.mit.edu	37	20	61912699	61912699	+	Splice_Site	SNP	C	C	T	rs6122111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61912699C>T	ENST00000370283.4	+	8	824	c.684C>T	c.(682-684)ggC>ggT	p.G228G	ARFGAP1_ENST00000370275.4_Splice_Site_p.G228G|ARFGAP1_ENST00000547204.1_Splice_Site_p.G154G|ARFGAP1_ENST00000519273.2_Splice_Site_p.G115G|ARFGAP1_ENST00000353546.3_Splice_Site_p.G228G|ARFGAP1_ENST00000519604.1_Splice_Site_p.G175G	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1			13	all_cancers(38;1.59e-09)				CCAAGGAGGGCGTAAGTCACT	0.662000																								0							SO:0001630	splice_region_variant			ENST00000370283.4	1	0	hg19	CCDS13515.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	1	0	1	10	47	0	18	1	9.999966e-01	17	133	0	18	2		0	0	0	0	0	2	1	9.975299e-01	9	47	0	18	2								-19.245800	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.997179	0.990000	1	9.900000e-01	1
COL20A1	57642	broad.mit.edu	37	20	61926468	61926468	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61926468C>T	ENST00000358894.6	+	2	109	c.9C>T	c.(7-9)tcC>tcT	p.S3S	COL20A1_ENST00000422202.1_Silent_p.S3S|COL20A1_ENST00000435874.1_Silent_p.S3S|COL20A1_ENST00000326996.6_Silent_p.S3S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1			36	all_cancers(38;1.39e-10)				CCATGAGCTCCGGAGACCCTG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000358894.6	0	1	hg19	CCDS46628.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	0	0	0	4	14	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	8.686636e-01	3	13	0	8	2								-11.394640	1	1	101772	1	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.720000	1.000000	1.000000	0.982256	0.990000	1	9.900000e-01	1
COL20A1	57642	broad.mit.edu	37	20	61958146	61958146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958146C>T	ENST00000358894.6	+	31	3599	c.3499C>T	c.(3499-3501)Cga>Tga	p.R1167*	COL20A1_ENST00000422202.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.R1199*	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1			36	all_cancers(38;1.39e-10)				TAGTGGAGAGCGAGGACCTCC	0.617000																								0							SO:0001587	stop_gained			ENST00000358894.6	0	1	hg19	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	38	6.702925	0.97776	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.	.	.	3.92	0.239	0.15484	.	0.240310	0.34046	U	0.004304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.5301	0.16980	0.6065:0.281:0.0:0.1126	.	.	.	.	X	1167;1199;1174;1174;302;157	.	ENSP00000323077:R1199X	R	+	1	2	COL20A1	61428590	0.056000	0.20664	0.946000	0.38457	0.007000	0.05969	0.001000	0.13038	0.168000	0.19655	-0.666000	0.03841	CGA		TCGA-IB-7651-01A-11D-2154-08	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	0	0	0	9	41	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.956807e-01	9	41	0	8	2								-17.833490	1	0	120338	6	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.970000	1.000000	1.000000	0.996431	0.990000	1	9.900000e-01	1
COL20A1	57642	broad.mit.edu	37	20	61958155	61958155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958155C>A	ENST00000358894.6	+	31	3608	c.3508C>A	c.(3508-3510)Cca>Aca	p.P1170T	COL20A1_ENST00000422202.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1			36	all_cancers(38;1.39e-10)				GCGAGGACCTCCAGGGACCGT	0.622000																								0							SO:0001583	missense			ENST00000358894.6	0	1	hg19	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240504	0.22711	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.90900	-2.63;-2.63;-2.63;-2.63;-2.75;-2.75	3.92	1.93	0.25924	.	0.239997	0.32416	U	0.006123	D	0.91831	0.7415	M	0.62016	1.91	0.34361	D	0.691012	D;D	0.76494	0.999;0.999	D;D	0.72982	0.964;0.979	D	0.89616	0.3845	10	0.40728	T	0.16	.	4.0991	0.10005	0.0:0.5812:0.1972:0.2216	.	1177;1170	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	1170;1202;1177;1177;305;160	ENSP00000351767:P1170T;ENSP00000323077:P1202T;ENSP00000408690:P1177T;ENSP00000414753:P1177T;ENSP00000410799:P305T;ENSP00000406345:P160T	ENSP00000323077:P1202T	P	+	1	0	COL20A1	61428599	0.037000	0.19845	0.339000	0.25562	0.023000	0.10783	1.718000	0.38001	0.165000	0.19558	0.313000	0.20887	CCA		TCGA-IB-7651-01A-11D-2154-08	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	1	0	0	9	44	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.955977e-01	9	44	0	7	2								-17.616870	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.940000	1.000000	1.000000	0.995399	0.990000	1	9.900000e-01	1
CHRNA4	1137	broad.mit.edu	37	20	61981707	61981707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981707C>T	ENST00000370263.4	-	5	1277	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)			33	all_cancers(38;1.71e-10)			Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCAGGCGTGGCACGATGTCCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000370263.4	1	1	hg19	CCDS13517.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3	0	0	1	64	253	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	65	245	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNA4	1137	broad.mit.edu	37	20	61981955	61981955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981955C>T	ENST00000370263.4	-	5	1029	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)			33	all_cancers(38;1.71e-10)			Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCGCCACACTCGGAGGGCAGG	0.597000																								0							SO:0001583	missense			ENST00000370263.4	1	1	hg19	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290988	0.80914	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.72615	-0.67	5.06	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.379961	0.31542	N	0.007480	T	0.70456	0.3226	L	0.55834	1.745	0.53688	D	0.999979	D;P	0.53462	0.96;0.807	P;B	0.46110	0.504;0.208	T	0.74864	-0.3519	10	0.87932	D	0	.	15.1965	0.73096	0.0:0.8582:0.1418:0.0	.	199;270	Q4VAQ5;P43681	.;ACHA4_HUMAN	K	176;270;199	ENSP00000359285:E270K	ENSP00000359280:E176K	E	-	1	0	CHRNA4	61452399	0.999000	0.42202	0.111000	0.21465	0.881000	0.50899	3.987000	0.56944	1.050000	0.40346	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3	1	0	1	58	291	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	57	281	0	71	2								-3.102508	1	1	121402	2	34	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNQ2	3785	broad.mit.edu	37	20	62046315	62046315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62046315C>T	ENST00000359125.2	-	13	1640	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R459H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2			65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGCCCGGCTGCGGTCCCCGAA	0.692000																								0							SO:0001583	missense			ENST00000359125.2	1	1	hg19	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888755	0.72524	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	5.26	5.26	0.73747	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.140241	0.47852	D	0.000206	D	0.98988	0.9655	L	0.47190	1.495	0.50313	D	0.999868	B;B;B;B	0.33379	0.41;0.41;0.41;0.273	B;B;B;B	0.26202	0.018;0.027;0.04;0.067	D	0.99875	1.1103	10	0.87932	D	0	-15.9725	18.8445	0.92200	0.0:1.0:0.0:0.0	.	461;471;459;489	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	H	471;489;459;461;489;459;461;449;461;461	ENSP00000349789:R471H;ENSP00000352035:R489H;ENSP00000359246:R459H;ENSP00000346601:R461H;ENSP00000352718:R489H;ENSP00000399612:R459H;ENSP00000353668:R461H;ENSP00000339611:R449H;ENSP00000359244:R461H;ENSP00000359242:R461H	ENSP00000339611:R449H	R	-	2	0	KCNQ2	61516759	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.714000	0.54889	2.462000	0.83206	0.478000	0.44815	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	1	0	1	118	507	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	118	502	0	104	2								-3.348783	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNQ2	3785	broad.mit.edu	37	20	62065214	62065214	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62065214G>T	ENST00000359125.2	-	8	1240	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344462.4_Missense_Mutation_p.L356M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2			65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTGGAGTGCAGGTCTGTGCGC	0.627000																								0							SO:0001583	missense			ENST00000359125.2	1	1	hg19	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720439	0.89205	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99298	-5.47;-5.61;-5.61;-5.45;-5.63;-5.47;-5.51;-5.57;-5.45;-5.53;-5.71;-5.24	4.93	2.97	0.34412	.	0.000000	0.53938	D	0.000054	D	0.98607	0.9534	L	0.42245	1.32	0.51482	D	0.999927	D;B;D;D;D;D	0.62365	0.987;0.451;0.991;0.984;0.958;0.973	P;B;P;P;P;P	0.61800	0.601;0.126;0.894;0.894;0.793;0.786	D	0.98376	1.0556	10	0.72032	D	0.01	-32.1885	10.1405	0.42732	0.1606:0.0:0.8394:0.0	.	356;356;356;356;356;356	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	M	356	ENSP00000349789:L356M;ENSP00000352035:L356M;ENSP00000359246:L356M;ENSP00000346601:L356M;ENSP00000352718:L356M;ENSP00000399612:L356M;ENSP00000353668:L356M;ENSP00000339611:L356M;ENSP00000359244:L356M;ENSP00000359242:L356M;ENSP00000359241:L356M;ENSP00000345523:L356M	ENSP00000345523:L356M	L	-	1	2	KCNQ2	61535658	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.238000	0.58688	1.089000	0.41292	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	1	0	1	102	432	0	83	0	0	1	0	0	83	2		0	0	0	0	0	2	1	1	100	426	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNQ2	3785	broad.mit.edu	37	20	62070950	62070950	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070950C>T	ENST00000359125.2	-	6	1102		c.e6+1		KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000354587.3_Splice_Site|KCNQ2_ENST00000344462.4_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2			65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCTGGACTTACTGCAGGCAGC	0.642000																								0							SO:0001630	splice_region_variant			ENST00000359125.2	1	1	hg19	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980181	0.34942	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4798	0.84155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNQ2	61541394	1.000000	0.71417	0.783000	0.31826	0.019000	0.09904	7.574000	0.82434	1.908000	0.55244	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	1	0	1	55	330	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	54	325	0	76	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
EEF1A2	1917	broad.mit.edu	37	20	62120272	62120272	+	Splice_Site	SNP	G	G	A	rs115107511	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62120272G>A	ENST00000298049.7	-	6	1333	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	EEF1A2_ENST00000217182.3_Splice_Site_p.L421L			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2			20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		CCGGCTCACCGAGAGGCGGGT	0.672000																								0							SO:0001630	splice_region_variant			ENST00000298049.7	1	0	hg19	CCDS13522.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	1	0	0	42	198	0	44	1	9.731246e-01	2	28	0	44	2		0	0	0	0	0	2	1	1	40	178	0	34	2								-3.489620	1	1	120032	163	51	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTK6	5753	broad.mit.edu	37	20	62164956	62164956	+	Silent	SNP	G	G	A	rs61736391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62164956G>A	ENST00000217185.2	-	4	645	c.618C>T	c.(616-618)ttC>ttT	p.F206F	PTK6_ENST00000542869.1_Silent_p.F105F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6			15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)	Vandetanib(DB05294)	AGAGCCCCTCGAAGACCTCCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000217185.2	1	1	hg19	CCDS13524.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1	1	0	1	94	535	0	97	1	9.999994e-01	51	64	0	97	2		0	0	0	0	0	2	1	1	92	525	0	96	2								-3.017861	1	1	121412	17	48	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTK6	5753	broad.mit.edu	37	20	62166298	62166298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62166298G>A	ENST00000217185.2	-	2	372	c.345C>T	c.(343-345)gtC>gtT	p.V115V	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6			15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)	Vandetanib(DB05294)	CACCCGACAGGACGTAGTCGG	0.706000																								0							SO:0001819	synonymous_variant			ENST00000217185.2	1	1	hg19	CCDS13524.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1	1	0	1	25	69	0	21	1	9.998442e-01	19	25	0	21	2		0	0	0	0	0	2	1	1	25	69	0	20	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRMS	6725	broad.mit.edu	37	20	62172627	62172627	+	Missense_Mutation	SNP	C	C	T	rs139360881	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62172627C>T	ENST00000217188.1	-	7	1242	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites			19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		GGAGAAGACACGATAATTGGC	0.617000																								0							SO:0001583	missense			ENST00000217188.1	1	1	hg19	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546856	0.13312	0.0	1.16E-4	ENSG00000125508	ENST00000217188	D	0.83075	-1.68	4.83	1.78	0.24846	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.386473	0.21692	N	0.070556	T	0.74816	0.3766	L	0.42245	1.32	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.65401	-0.6177	10	0.66056	D	0.02	.	9.3378	0.38060	0.0:0.6934:0.0:0.3066	.	401	Q9H3Y6	SRMS_HUMAN	H	401	ENSP00000217188:R401H	ENSP00000217188:R401H	R	-	2	0	SRMS	61643071	0.034000	0.19679	0.000000	0.03702	0.007000	0.05969	0.815000	0.27253	0.193000	0.20303	-0.263000	0.10527	CGT		TCGA-IB-7651-01A-11D-2154-08	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	1	0	1	162	767	0	183	1	8.674896e-01	11	8	0	183	2		0	0	0	0	0	2	1	1	159	754	0	181	2								-20.000000	1	1	121268	1	46	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRMS	6725	broad.mit.edu	37	20	62178549	62178549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178549C>T	ENST00000217188.1	-	1	308	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites			19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		AGCCTGCGTGCGAAGATGTAG	0.677000																								0							SO:0001583	missense			ENST00000217188.1	1	1	hg19	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090229	0.36855	.	.	ENSG00000125508	ENST00000217188	T	0.51817	0.69	4.24	4.24	0.50183	Src homology-3 domain (3);	0.000000	0.53938	D	0.000053	T	0.51787	0.1695	M	0.89658	3.05	0.42584	D	0.993225	P	0.34699	0.464	B	0.31751	0.135	T	0.57745	-0.7758	10	0.36615	T	0.2	.	10.051	0.42216	0.0:0.9043:0.0:0.0957	.	90	Q9H3Y6	SRMS_HUMAN	T	90	ENSP00000217188:A90T	ENSP00000217188:A90T	A	-	1	0	SRMS	61648993	0.984000	0.35163	0.101000	0.21167	0.005000	0.04900	2.625000	0.46452	1.899000	0.54978	0.491000	0.48974	GCA		TCGA-IB-7651-01A-11D-2154-08	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	1	0	1	52	192	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	51	189	0	53	2								-20.000000	1	0	121060	6	40	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRMS	6725	broad.mit.edu	37	20	62178609	62178609	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178609G>T	ENST00000217188.1	-	1	248	c.208C>A	c.(208-210)Ctg>Atg	p.L70M		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites			19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		CGGACACTCAGCTCCCCGCCA	0.697000																								0							SO:0001583	missense			ENST00000217188.1	1	1	hg19	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634775	0.47049	.	.	ENSG00000125508	ENST00000217188	T	0.70045	-0.45	4.09	2.04	0.26737	Src homology-3 domain (3);	0.000000	0.42053	D	0.000765	D	0.82287	0.5004	M	0.89840	3.065	0.36135	D	0.846384	D	0.89917	1.0	D	0.97110	1.0	D	0.86246	0.1646	10	0.87932	D	0	.	10.1426	0.42744	0.1726:0.0:0.8274:0.0	.	70	Q9H3Y6	SRMS_HUMAN	M	70	ENSP00000217188:L70M	ENSP00000217188:L70M	L	-	1	2	SRMS	61649053	1.000000	0.71417	0.918000	0.36340	0.103000	0.19146	4.716000	0.61916	0.678000	0.31325	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	1	0	0	22	80	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999993e-01	21	77	0	26	2								-16.150580	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
C20orf195	79025	broad.mit.edu	37	20	62187575	62187575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187575C>T	ENST00000370098.3	+	2	651	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195			7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		CGTCAAGCACCGCCTGGTGTC	0.647000																								0							SO:0001583	missense			ENST00000370098.3	1	1	hg19	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539105	0.45176	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000046	T	0.65678	0.2714	L	0.29908	0.895	0.46586	D	0.999115	D	0.89917	1.0	D	0.71414	0.973	T	0.68842	-0.5302	9	0.87932	D	0	-28.6082	15.6531	0.77112	0.1377:0.8623:0.0:0.0	.	187	Q9BVV2	CT195_HUMAN	C	187	.	ENSP00000359115:R187C	R	+	1	0	C20orf195	61658019	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.253000	0.43205	2.573000	0.86826	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	1	0	1	139	577	0	137	1	1.735836e-01	2	2	0	137	2		0	0	0	0	0	2	1	1	139	577	0	137	2								-2.753582	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C20orf195	79025	broad.mit.edu	37	20	62187886	62187886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187886G>A	ENST00000370098.3	+	2	962	c.870G>A	c.(868-870)acG>acA	p.T290T	C20orf195_ENST00000370097.1_Silent_p.T290T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195			7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		AGACCTCCACGCTGGTGTACG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000370098.3	1	1	hg19	CCDS13526.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	1	0	1	100	856	0	143	0	5.793444e-02	1	3	0	143	2		0	0	0	0	0	2	1	1	100	848	0	139	2								-20.000000	1	1	121410	3	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999476	0.990000	1	9.900000e-01	1
RTEL1	51750	broad.mit.edu	37	20	62321794	62321794	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62321794G>A	ENST00000360203.5	+	26	2738	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	RTEL1_ENST00000370018.3_Splice_Site_p.G805R|RTEL1_ENST00000508582.2_Splice_Site_p.G829R|RTEL1_ENST00000318100.4_Splice_Site_p.G805R|RTEL1_ENST00000370003.1_Splice_Site_p.G50R|RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805R					regulator of telomere elongation helicase 1			24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		GAGGTCCTCAGGTGCGGACGG	0.701000																								0							SO:0001630	splice_region_variant			ENST00000360203.5	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078151	0.76528	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.16	4.16	0.48862	.	0.712591	0.13416	N	0.389486	T	0.28797	0.0714	M	0.64997	1.995	0.37882	D	0.930427	D;D;P;D	0.89917	0.991;1.0;0.935;0.99	P;D;P;P	0.97110	0.845;1.0;0.67;0.828	T	0.03807	-1.1002	10	0.23302	T	0.38	-20.4953	13.999	0.64421	0.0:0.0:1.0:0.0	.	829;50;805;805	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	805;805;829;805;198;50	ENSP00000359035:G805R;ENSP00000322287:G805R;ENSP00000424307:G829R;ENSP00000353332:G805R;ENSP00000388063:G198R;ENSP00000359020:G50R	ENSP00000353332:G805R	G	+	1	0	AL353715.1	61792238	0.999000	0.42202	0.490000	0.27465	0.399000	0.30720	4.479000	0.60236	2.144000	0.66660	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	1	0	0	39	172	0	25	1	9.998629e-01	11	52	0	25	2		0	0	0	0	0	2	1	1	39	171	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC2A4RG	56731	broad.mit.edu	37	20	62372827	62372827	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62372827G>A	ENST00000266077.2	+	3	438	c.386G>A	c.(385-387)aGc>aAc	p.S129N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator			7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)				GCAGCCTTCAGCCCAGGTAAG	0.627000																								0							SO:0001583	missense			ENST00000266077.2	1	1	hg19	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891685	0.17613	.	.	ENSG00000125520	ENST00000266077	T	0.33438	1.41	4.08	3.07	0.35406	.	0.211659	0.23160	U	0.051245	T	0.26376	0.0644	L	0.55481	1.735	0.09310	N	1	P	0.50528	0.936	B	0.42030	0.373	T	0.14200	-1.0481	10	0.40728	T	0.16	.	7.8892	0.29667	0.0:0.294:0.5475:0.1585	.	129	Q9NR83	S2A4R_HUMAN	N	129	ENSP00000266077:S129N	ENSP00000266077:S129N	S	+	2	0	SLC2A4RG	61843271	0.288000	0.24324	0.194000	0.23346	0.096000	0.18686	1.799000	0.38824	1.847000	0.53656	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	1	0	1	29	182	0	33	1	9.999999e-01	47	132	0	33	2		0	0	0	0	0	2	1	1	28	181	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999676	0.990000	1	9.900000e-01	1
ZBTB46	140685	broad.mit.edu	37	20	62407098	62407098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62407098G>A	ENST00000245663.4	-	3	1305	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZBTB46_ENST00000395104.1_Silent_p.A385A|ZBTB46_ENST00000302995.2_Silent_p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	p.A385A(1)		24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)				CCAGCACGTCGGCCTTCAGCG	0.677000											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000245663.4	1	1	hg19	CCDS13538.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	1	0	1	99	400	0	82	0	9.695931e-01	1	24	0	82	2		0	0	0	0	0	2	1	1	97	392	0	77	2								-20.000000	1	1	121404	2	36	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB46	140685	broad.mit.edu	37	20	62421293	62421293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62421293C>T	ENST00000245663.4	-	2	968	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q|ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46			24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)				TTTGTTTTTCCGATTCTTCCT	0.627000																								0							SO:0001583	missense			ENST00000245663.4	1	1	hg19	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461000	0.63513	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.12774	2.65;2.65;2.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.63843	1.955	0.47123	D	0.999327	D	0.57899	0.981	P	0.46275	0.51	T	0.04870	-1.0921	10	0.11794	T	0.64	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	273	Q86UZ6	ZBT46_HUMAN	Q	273	ENSP00000245663:R273Q;ENSP00000303102:R273Q;ENSP00000378536:R273Q	ENSP00000245663:R273Q	R	-	2	0	ZBTB46	61891737	0.997000	0.39634	0.966000	0.40874	0.785000	0.44390	5.613000	0.67688	2.749000	0.94314	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	1	0	1	106	435	0	77	1	9.946513e-01	3	32	0	77	2		0	0	0	0	0	2	1	1	103	429	0	76	2								-2.929391	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPD52L2	7165	broad.mit.edu	37	20	62514152	62514152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62514152G>A	ENST00000346249.4	+	5	531	c.455G>A	c.(454-456)aGc>aAc	p.S152N	TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N|TPD52L2_ENST00000217121.5_Missense_Mutation_p.S152N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2			8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)				TCTGCCATCAGCAGGAAGCTT	0.552000																								0							SO:0001583	missense			ENST00000346249.4	1	1	hg19	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242139	0.79912	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.15	5.15	0.70609	.	0.147707	0.64402	D	0.000017	T	0.49201	0.1543	M	0.82193	2.58	0.40483	D	0.980467	P;P;B;D;B;P;P;B;B	0.53885	0.464;0.661;0.433;0.963;0.433;0.454;0.765;0.254;0.433	P;P;P;P;P;B;B;B;P	0.58780	0.579;0.456;0.561;0.845;0.561;0.357;0.357;0.375;0.456	T	0.56792	-0.7920	10	0.72032	D	0.01	-20.0996	13.3671	0.60692	0.0:0.1579:0.8421:0.0	.	109;103;152;132;152;132;132;152;152	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	N	109;152;132;152;132;152;132	ENSP00000358943:S109N;ENSP00000343547:S152N;ENSP00000343554:S132N;ENSP00000344647:S152N;ENSP00000340006:S132N;ENSP00000217121:S152N;ENSP00000351350:S132N	ENSP00000217121:S152N	S	+	2	0	TPD52L2	61984596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.296000	0.72751	2.401000	0.81631	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1	1	0	1	36	178	0	37	1	1	123	328	0	37	2		0	0	0	0	0	2	1	1	35	175	0	36	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
DNAJC5	80331	broad.mit.edu	37	20	62560750	62560750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560750G>A	ENST00000360864.4	+	3	346	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5			5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)				CAACGCGCACGCCATCCTCAC	0.547000																								0							SO:0001583	missense			ENST00000360864.4	1	1	hg19	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196237	0.58126	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.30182	1.54;1.54	5.4	4.45	0.53987	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.102238	0.64402	N	0.000002	T	0.19087	0.0458	N	0.16016	0.355	0.53688	D	0.999977	B;B	0.18310	0.024;0.027	B;B	0.16289	0.013;0.015	T	0.03910	-1.0993	10	0.23891	T	0.37	.	14.429	0.67236	0.0717:0.0:0.9283:0.0	.	65;65	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	65	ENSP00000358927:A65T;ENSP00000354111:A65T	ENSP00000354111:A65T	A	+	1	0	DNAJC5	62031194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.517000	0.53443	1.419000	0.47118	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	1	0	1	87	320	1	79	1	1	53	159	1	79	11		0	0	0	0	0	2	1	1	85	305	1	76	17								-20.000000	1	0	121410	6	41	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJC5	80331	broad.mit.edu	37	20	62560765	62560765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560765G>A	ENST00000360864.4	+	3	361	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5			5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)				CCTCACGGACGCCACAAAAAG	0.557000																								0							SO:0001583	missense			ENST00000360864.4	1	1	hg19	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974454	0.53720	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.29917	1.55;1.55	5.4	4.44	0.53790	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.051899	0.85682	D	0.000000	T	0.21590	0.0520	N	0.17278	0.47	0.37425	D	0.913797	B;B	0.19583	0.014;0.037	B;B	0.13407	0.005;0.009	T	0.06588	-1.0818	10	0.41790	T	0.15	.	16.0043	0.80349	0.0:0.0:0.8645:0.1355	.	70;70	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	70	ENSP00000358927:A70T;ENSP00000354111:A70T	ENSP00000354111:A70T	A	+	1	0	DNAJC5	62031209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.856000	0.55964	1.409000	0.46915	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	1	0	1	87	401	0	92	1	1	60	138	0	92	2		0	0	0	0	0	2	1	1	82	377	0	83	2								-3.131874	1	0	121410	1	30	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF512B	57473	broad.mit.edu	37	20	62592748	62592748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62592748C>T	ENST00000450537.1	-	16	2401	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B			33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)				TACTTCCCTGCCAGGTGGGCC	0.592000																								0							SO:0001583	missense			ENST00000450537.1	1	1	hg19	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460950	0.26248	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24151	1.87;1.87;1.87	5.23	5.23	0.72850	.	0.252101	0.34314	N	0.004076	T	0.18759	0.0450	N	0.17082	0.46	0.23559	N	0.997415	B	0.33777	0.425	B	0.32465	0.146	T	0.12016	-1.0564	10	0.28530	T	0.3	-10.0442	18.7906	0.91973	0.0:1.0:0.0:0.0	.	781	Q96KM6	Z512B_HUMAN	T	781	ENSP00000358904:A781T;ENSP00000393795:A781T;ENSP00000217130:A781T	ENSP00000217130:A781T	A	-	1	0	ZNF512B	62063192	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.092000	0.50207	2.448000	0.82819	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	1	0	0	25	292	0	68	1	8.316879e-01	2	38	0	68	2		0	0	0	0	0	2	1	9.999999e-01	25	289	0	68	2								-3.318796	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.940000	0.620000	1.000000	1.000000	0.904666	0.940000	1	7.700000e-01	1
ZNF512B	57473	broad.mit.edu	37	20	62594982	62594982	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62594982G>A	ENST00000450537.1	-	10	1747	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y|ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B			33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)				TTGGCACTGTGCTCGGCCATA	0.622000																								0							SO:0001583	missense			ENST00000450537.1	1	1	hg19	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709041	0.68615	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.37915	1.17;1.17;1.17	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.134765	0.49305	D	0.000155	T	0.56247	0.1972	M	0.62723	1.935	0.49051	D	0.999748	D	0.71674	0.998	D	0.83275	0.996	T	0.60692	-0.7213	10	0.87932	D	0	-15.5574	13.504	0.61474	0.0:0.1574:0.8426:0.0	.	563	Q96KM6	Z512B_HUMAN	Y	563	ENSP00000358904:H563Y;ENSP00000393795:H563Y;ENSP00000217130:H563Y	ENSP00000217130:H563Y	H	-	1	0	ZNF512B	62065426	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.971000	0.63749	2.004000	0.58718	0.411000	0.27672	CAC		TCGA-IB-7651-01A-11D-2154-08	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	1	0	0	29	382	0	80	0	4.288211e-01	1	19	0	80	2		0	0	0	0	0	2	1	1	29	378	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.840000	0.570000	1.000000	1.000000	0.842877	0.840000	0	7.000000e-01	1
ZNF512B	57473	broad.mit.edu	37	20	62595140	62595140	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62595140A>T	ENST00000450537.1	-	9	1666		c.e9+1		ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B			33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)				GAGCTGCCTTACCTTCTGACA	0.637000																								0							SO:0001630	splice_region_variant			ENST00000450537.1	1	1	hg19	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811542	0.70797	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8107	0.52181	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF512B	62065584	1.000000	0.71417	0.982000	0.44146	0.877000	0.50540	6.611000	0.74183	1.611000	0.50210	0.383000	0.25322	.		TCGA-IB-7651-01A-11D-2154-08	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	0	0	1	156	651	1	136		0	0	0	1	136	2		0	0	0	0	0	2	1	1	154	638	1	135	20								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF512B	57473	broad.mit.edu	37	20	62597563	62597563	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62597563T>G	ENST00000450537.1	-	5	1025	c.965A>C	c.(964-966)aAa>aCa	p.K322T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B			33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)				CAGCACCATTTTGCAGGGCGG	0.592000																								0							SO:0001583	missense			ENST00000450537.1	1	1	hg19	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034312	0.75617	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24908	1.83;1.83;1.83	5.54	5.54	0.83059	.	0.397373	0.24054	N	0.041980	T	0.42539	0.1207	L	0.50333	1.59	0.36736	D	0.881961	D	0.76494	0.999	D	0.66716	0.946	T	0.49418	-0.8942	10	0.52906	T	0.07	-18.8106	12.063	0.53572	0.0:0.0:0.0:1.0	.	322	Q96KM6	Z512B_HUMAN	T	322	ENSP00000358904:K322T;ENSP00000393795:K322T;ENSP00000217130:K322T	ENSP00000217130:K322T	K	-	2	0	ZNF512B	62068007	0.929000	0.31497	0.964000	0.40570	0.984000	0.73092	0.328000	0.19681	2.104000	0.64026	0.477000	0.44152	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	1	0	1	89	444	0	110	1	9.929530e-01	5	35	0	110	2		0	0	0	0	0	2	1	1	85	429	0	106	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF512B	57473	broad.mit.edu	37	20	62598231	62598231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62598231C>A	ENST00000450537.1	-	4	451	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W|ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B			33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)				TCCCTTACCCCTTGGCACCGC	0.622000																								0							SO:0001583	missense			ENST00000450537.1	1	1	hg19	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679002	0.88542	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.30714	1.52;1.52;1.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.29908	0.895	0.47698	D	0.999499	D	0.89917	1.0	D	0.97110	1.0	T	0.45991	-0.9223	10	0.87932	D	0	-37.8379	17.032	0.86463	0.0:1.0:0.0:0.0	.	131	Q96KM6	Z512B_HUMAN	W	131	ENSP00000358904:G131W;ENSP00000393795:G131W;ENSP00000217130:G131W	ENSP00000217130:G131W	G	-	1	0	ZNF512B	62068675	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.167000	0.77562	2.451000	0.82905	0.585000	0.79938	GGG		TCGA-IB-7651-01A-11D-2154-08	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	1	0	1	44	224	0	66	1	9.910309e-01	6	34	0	66	2		0	0	0	0	0	2	1	1	44	220	0	65	2								-3.176870	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TCEA2	6919	broad.mit.edu	37	20	62701711	62701711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62701711C>T	ENST00000343484.5	+	7	785	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	TCEA2_ENST00000361317.2_Missense_Mutation_p.R179W|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2			12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)				TGACCTGCGGCGGAATGTGCT	0.582000																								0							SO:0001583	missense			ENST00000343484.5	1	1	hg19	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104062	0.56291	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	3.97	-0.0952	0.13642	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.230417	0.37219	N	0.002183	T	0.63177	0.2489	M	0.90542	3.125	0.37110	D	0.900287	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.968;0.968;0.997	T	0.66304	-0.5957	10	0.87932	D	0	-1.4833	6.2334	0.20750	0.6126:0.2791:0.0:0.1083	.	206;206;179	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	W	179;206;179;179;179	ENSP00000354552:R179W;ENSP00000343515:R206W;ENSP00000339432:R179W;ENSP00000407085:R179W;ENSP00000416026:R179W	ENSP00000339432:R179W	R	+	1	2	TCEA2	62172155	0.005000	0.15991	0.044000	0.18714	0.782000	0.44232	0.247000	0.18179	0.248000	0.21435	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	1	0	1	74	305	0	96	1	9.999998e-01	20	75	0	96	2		0	0	0	0	0	2	1	1	72	299	0	94	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS19	10287	broad.mit.edu	37	20	62705215	62705215	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705215G>A	ENST00000395042.1	-	6	911	c.645C>T	c.(643-645)tcC>tcT	p.S215S	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.S215S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19			3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)				CCTAGGCCTCGGAGGAGGACT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000395042.1	1	1	hg19	CCDS13555.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	1	0	1	50	284	0	63	1	9.997028e-01	15	56	0	63	2		0	0	0	0	0	2	1	1	48	280	0	62	2								-2.971077	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
RGS19	10287	broad.mit.edu	37	20	62705620	62705620	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19			3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)				TGTTCTCCTCGCTGTACTCTG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000395042.1	1	1	hg19	CCDS13555.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	0	0	0	9	269	0	54	1	8.442791e-01	8	95	0	54	2		0	0	0	0	0	2	1	9.939435e-01	8	265	0	52	2								-9.960912	1	0	121410	6	38	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.400000	0.190000	1.000000	0.370000	0.442589	0.400000	0	2.800000e-01	5.700000e-01
MYT1	4661	broad.mit.edu	37	20	62837056	62837056	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62837056G>T	ENST00000328439.1	+	6	664	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MYT1_ENST00000536311.1_Missense_Mutation_p.K100N|MYT1_ENST00000360149.4_Missense_Mutation_p.K100N	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				CTGAGGTGAAGGACGCCTCTG	0.602000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000328439.1	1	1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153901	0.57259	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.50548	0.74;1.57;1.57	5.58	5.58	0.84498	.	0.252000	0.41194	D	0.000928	T	0.60051	0.2239	M	0.66939	2.045	0.24673	N	0.993402	D;D	0.59357	0.958;0.985	P;P	0.55508	0.558;0.777	T	0.58306	-0.7659	10	0.59425	D	0.04	-41.3035	13.5078	0.61493	0.0756:0.0:0.9244:0.0	.	100;100	Q01538;Q6P6D5	MYT1_HUMAN;.	N	100	ENSP00000353269:K100N;ENSP00000327465:K100N;ENSP00000442412:K100N	ENSP00000327465:K100N	K	+	3	2	MYT1	62307500	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.868000	0.48436	2.642000	0.89623	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	0	25	214	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	9.999999e-01	24	212	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.830000	1.000000	1.000000	0.987550	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62838959	62838959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62838959T>C	ENST00000328439.1	+	7	774	c.410T>C	c.(409-411)gTc>gCc	p.V137A	MYT1_ENST00000536311.1_Missense_Mutation_p.V137A|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				AGGAGCCCCGTCAAGTCCCAT	0.582000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000328439.1	1	1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	6.751	0.507434	0.12883	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.36699	1.24;1.24	4.29	-0.302	0.12796	.	2.154190	0.02314	N	0.072344	T	0.18467	0.0443	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11012	-1.0605	10	0.08381	T	0.77	-2.8656	3.0817	0.06265	0.2218:0.4444:0.0:0.3339	.	137	Q01538	MYT1_HUMAN	A	137	ENSP00000327465:V137A;ENSP00000442412:V137A	ENSP00000327465:V137A	V	+	2	0	MYT1	62309403	0.000000	0.05858	0.001000	0.08648	0.907000	0.53573	0.105000	0.15333	0.184000	0.20083	0.373000	0.22412	GTC		TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1	129	553	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	1	126	542	0	161	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62839080	62839080	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839080G>T	ENST00000328439.1	+	7	895	c.531G>T	c.(529-531)gaG>gaT	p.E177D	MYT1_ENST00000536311.1_Missense_Mutation_p.E177D|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				TTGCTGAAGAGACCCTGGTGG	0.612000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000328439.1	1	1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	9.517	1.107190	0.20714	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.47528	0.85;0.84	4.72	3.65	0.41850	.	0.186992	0.41396	D	0.000894	T	0.32406	0.0828	L	0.59436	1.845	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23583	-1.0184	10	0.02654	T	1	-17.0321	3.1077	0.06347	0.4368:0.0:0.5632:0.0	.	177	Q01538	MYT1_HUMAN	D	177	ENSP00000327465:E177D;ENSP00000442412:E177D	ENSP00000327465:E177D	E	+	3	2	MYT1	62309524	1.000000	0.71417	0.158000	0.22627	0.219000	0.24729	0.842000	0.27627	2.188000	0.69820	0.552000	0.68991	GAG		TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	0	0	0	9	384	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	9.938587e-01	8	378	0	79	2								-8.956676	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.280000	0.130000	1.000000	0.270000	0.328833	0.280000	0	2.000000e-01	4.100000e-01
MYT1	4661	broad.mit.edu	37	20	62839313	62839313	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839313T>C	ENST00000328439.1	+	7	1128	c.764T>C	c.(763-765)cTg>cCg	p.L255P	MYT1_ENST00000536311.1_Missense_Mutation_p.L255P|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				AAAGGCATCCTGAGTCACgaa	0.597000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000328439.1	0	1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	9.258	1.042377	0.19748	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.72615	-0.67;-0.67	4.05	-0.0937	0.13648	.	0.882556	0.09404	N	0.806797	T	0.54431	0.1858	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.37606	T	0.19	-0.0125	0.3961	0.00418	0.2218:0.1385:0.2294:0.4103	.	255	Q01538	MYT1_HUMAN	P	255	ENSP00000327465:L255P;ENSP00000442412:L255P	ENSP00000327465:L255P	L	+	2	0	MYT1	62309757	0.015000	0.18098	0.004000	0.12327	0.952000	0.60782	0.501000	0.22578	0.427000	0.26145	0.451000	0.29950	CTG		TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1	15	91	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.998742e-01	13	88	0	15	2								-19.999990	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.980000	1.000000	1.000000	0.997197	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62843485	62843485	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62843485A>G	ENST00000328439.1	+	9	1875	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	MYT1_ENST00000536311.1_Missense_Mutation_p.H504R|MYT1_ENST00000360149.4_Missense_Mutation_p.H206R	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				CGCAACACGCACAGAAGGTAC	0.667000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000328439.1	1	1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842425	0.51057	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.61040	0.26;0.14;1.66	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.85130	0.995;0.997;0.997	D	0.85237	0.1036	10	0.87932	D	0	-25.2467	14.0537	0.64754	1.0:0.0:0.0:0.0	.	504;504;206	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	R	206;504;504	ENSP00000353269:H206R;ENSP00000327465:H504R;ENSP00000442412:H504R	ENSP00000327465:H504R	H	+	2	0	MYT1	62313929	1.000000	0.71417	0.986000	0.45419	0.686000	0.39977	9.204000	0.95041	1.777000	0.52277	0.455000	0.32223	CAC		TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	0	0	0	135	533	1	130		0	0	0	1	130	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62848447	62848447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62848447G>A	ENST00000328439.1	+	11	2023	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	MYT1_ENST00000536311.1_Silent_p.E553E|MYT1_ENST00000360149.4_Silent_p.E255E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				AGCAGCTCGAGGTCCCTCCAT	0.632000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001819	synonymous_variant			ENST00000328439.1	1	1	hg19	CCDS13558.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	0	94	477	0	91	0	0	0	1	0	91	2		0	0	0	0	0	2	1	1	93	469	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62850260	62850260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62850260G>A	ENST00000536311.1	+	12	2288	c.1924G>A	c.(1924-1926)Gca>Aca	p.A642T	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Intron			Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				ATCCTCTTCTGCAGGCTTTGA	0.577000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000536311.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.34	1.908347	0.33721	.	.	ENSG00000196132	ENST00000536311	T	0.49432	0.78	5.49	0.994	0.19832	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07654	-1.0761	8	0.48119	T	0.1	.	5.192	0.15214	0.5279:0.0:0.3304:0.1418	.	642	F5H7M8	.	T	642	ENSP00000442412:A642T	ENSP00000442412:A642T	A	+	1	0	MYT1	62320704	0.001000	0.12720	0.695000	0.30226	0.942000	0.58702	-0.054000	0.11826	0.008000	0.14787	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	MYT1-202	KNOWN	basic	protein_coding	protein_coding		0	0	1	126	488	0	140		0	0	0	0	140	2		0	0	0	0	0	2	1	1	124	475	0	139	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62859375	62859375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62859375C>T	ENST00000360149.4	+	16	1981	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MYT1_ENST00000536311.1_Intron|MYT1_ENST00000328439.1_Intron			Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				TTGAGATTTTCGTGTGTTTTA	0.438000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000360149.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.96	2.094669	0.36952	.	.	ENSG00000196132	ENST00000360149	T	0.44881	0.91	3.77	1.77	0.24775	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21759	-1.0236	7	.	.	.	.	5.8585	0.18732	0.0:0.5511:0.0:0.4489	.	588	Q6P6D5	.	L	588	ENSP00000353269:S588L	.	S	+	2	0	MYT1	62329819	0.001000	0.12720	0.001000	0.08648	0.209000	0.24338	0.290000	0.18975	0.382000	0.24878	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	MYT1-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	21	86	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999988e-01	21	85	0	31	2								-20.000000	1	1	121268	3	27	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62863731	62863731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62863731C>T	ENST00000328439.1	+	19	3254	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	MYT1_ENST00000536311.1_Missense_Mutation_p.H991Y	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				TTTCCTCACCCACCGGAGGTA	0.647000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000328439.1	1	1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550199	0.65311	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.60171	0.26;0.21	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	D	0.85943	0.1459	10	0.87932	D	0	-21.1337	17.4785	0.87667	0.0:1.0:0.0:0.0	.	991;964	F5H7M8;Q01538	.;MYT1_HUMAN	Y	964;991	ENSP00000327465:H964Y;ENSP00000442412:H991Y	ENSP00000327465:H964Y	H	+	1	0	MYT1	62334175	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.615000	0.83006	2.132000	0.65825	0.467000	0.42956	CAC		TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	0	57	243	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	57	241	0	53	2								-3.508034	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62868708	62868708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62868708G>A	ENST00000328439.1	+	21	3422	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	MYT1_ENST00000536311.1_Missense_Mutation_p.E1047K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				GTCCAACTCGGAGATGGAGGC	0.577000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001583	missense			ENST00000328439.1	1	1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247965	0.80024	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39397	1.21	0.80722	D	1	D;B	0.76494	0.999;0.22	D;B	0.80764	0.994;0.052	T	0.36261	-0.9755	10	0.06099	T	0.92	-26.8619	19.7607	0.96316	0.0:0.0:1.0:0.0	.	1047;1020	F5H7M8;Q01538	.;MYT1_HUMAN	K	1020;1047	ENSP00000327465:E1020K;ENSP00000442412:E1047K	ENSP00000327465:E1020K	E	+	1	0	MYT1	62339152	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	6.520000	0.73773	2.686000	0.91538	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1	12	54	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.994208e-01	12	54	0	15	2								-19.996210	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.998826	0.990000	1	9.900000e-01	1
MYT1	4661	broad.mit.edu	37	20	62871223	62871223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62871223C>T	ENST00000328439.1	+	22	3568	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	MYT1_ENST00000536311.1_Silent_p.I1095I	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1			55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				AGGCCCTCATCCAAAGTCTCG	0.597000													GBM(59;481 1041 20555 21139 33705)											0							SO:0001819	synonymous_variant			ENST00000328439.1	1	1	hg19	CCDS13558.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	1	0	1	128	642	0	160	0	0	0	1	0	160	2		0	0	0	0	0	2	1	1	127	636	0	159	2								-20.000000	1	1	121412	3	35	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCMTD2	55251	broad.mit.edu	37	20	62895791	62895791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62895791G>A	ENST00000308824.6	+	3	444	c.317G>A	c.(316-318)gGt>gAt	p.G106D	PCMTD2_ENST00000369758.4_Missense_Mutation_p.G106D|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2			17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				GGTCCTTTTGGTGTGAACCAT	0.388000																								0							SO:0001583	missense			ENST00000308824.6	1	1	hg19	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.439190	0.83885	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	T;T;T	0.53857	0.6;0.6;0.6	5.49	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77161	-0.2689	10	0.87932	D	0	-32.6802	14.6817	0.69023	0.0711:0.0:0.9289:0.0	.	106;106	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	D	106	ENSP00000358773:G106D;ENSP00000299468:G106D;ENSP00000307854:G106D	ENSP00000299468:G106D	G	+	2	0	PCMTD2	62366235	1.000000	0.71417	0.994000	0.49952	0.859000	0.49053	8.896000	0.92521	2.589000	0.87451	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	1	0	0	42	193	0	65	1	9.998838e-01	13	53	0	65	2		0	0	0	0	0	2	1	1	41	193	0	64	2								-19.999920	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCMTD2	55251	broad.mit.edu	37	20	62899295	62899295	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62899295C>A	ENST00000308824.6	+	5	765	c.638C>A	c.(637-639)gCt>gAt	p.A213D	PCMTD2_ENST00000369758.4_Intron|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2			17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)				AAGATTCTTGCTGTTTCTTTT	0.383000																								0							SO:0001583	missense			ENST00000308824.6	1	1	hg19	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	16.84	3.233203	0.58777	.	.	ENSG00000203880	ENST00000299468;ENST00000308824	T;T	0.43294	0.95;0.95	5.4	5.4	0.78164	.	0.049390	0.85682	D	0.000000	T	0.36991	0.0987	L	0.29908	0.895	0.80722	D	1	B	0.24186	0.099	B	0.25140	0.058	T	0.11397	-1.0589	10	0.45353	T	0.12	-18.4738	19.5253	0.95203	0.0:1.0:0.0:0.0	.	213	Q9NV79	PCMD2_HUMAN	D	213	ENSP00000299468:A213D;ENSP00000307854:A213D	ENSP00000299468:A213D	A	+	2	0	PCMTD2	62369739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.879000	0.75572	2.696000	0.92011	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	1	0	1	66	255	0	71	1	9.999994e-01	16	68	0	71	2		0	0	0	0	0	2	1	1	65	251	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCRT2	85508	broad.mit.edu	37	20	644759	644759	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:644759G>A	ENST00000246104.6	-	2	1057	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2			3					AGGTCTTGCCGCACTCGGCGC	0.791000																								0							SO:0001819	synonymous_variant			ENST00000246104.6	1	1	hg19	CCDS13006.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	1	0	0	29	126	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	29	124	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
HAO1	54363	broad.mit.edu	37	20	7886939	7886939	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7886939G>A	ENST00000378789.3	-	4	634	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1			36					TTTTCCTCAGGAGAAAATGAT	0.348000																								0							SO:0001583	missense			ENST00000378789.3	1	1	hg19	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	0.862	-0.734970	0.03111	.	.	ENSG00000101323	ENST00000378789	T	0.32988	1.43	5.54	3.37	0.38596	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.247105	0.42172	N	0.000751	T	0.13114	0.0318	N	0.17564	0.495	0.39356	D	0.965848	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10543	-1.0625	10	0.08599	T	0.76	21.5237	3.2671	0.06869	0.3628:0.2371:0.4001:0.0	.	195;195	A8K058;Q9UJM8	.;HAOX1_HUMAN	S	195	ENSP00000368066:P195S	ENSP00000368066:P195S	P	-	1	0	HAO1	7834939	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	2.344000	0.44010	1.321000	0.45227	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2	1	0	0	54	249	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	50	246	0	60	2								-3.407021	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMX4	56255	broad.mit.edu	37	20	7962940	7962940	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7962940G>T	ENST00000246024.2	-	8	1223	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4			17					GCTGCCTCAAGGAGTCTTCCA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000246024.2	1	1	hg19	CCDS13101.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	1	0	1	66	284	0	71	1	1	68	193	0	71	2		0	0	0	0	0	2	1	1	65	273	0	71	2								-2.970824	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMX4	56255	broad.mit.edu	37	20	7963119	7963119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963119C>T	ENST00000246024.2	-	8	1044	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4			17					tcttcttcctctgcttcatcc	0.502000																								0							SO:0001583	missense			ENST00000246024.2	1	1	hg19	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092491	0.36952	.	.	ENSG00000125827	ENST00000246024	T	0.11821	2.74	5.33	5.33	0.75918	.	0.249655	0.36101	N	0.002798	T	0.19287	0.0463	L	0.35288	1.05	0.38875	D	0.956772	D	0.55172	0.97	P	0.51833	0.681	T	0.00728	-1.1591	10	0.72032	D	0.01	-5.5676	14.8709	0.70456	0.0:1.0:0.0:0.0	.	277	Q9H1E5	TMX4_HUMAN	K	277	ENSP00000246024:E277K	ENSP00000246024:E277K	E	-	1	0	TMX4	7911119	0.583000	0.26757	0.955000	0.39395	0.461000	0.32589	4.085000	0.57657	2.653000	0.90120	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	1	0	1	56	259	0	54	1	1	64	225	0	54	2		0	0	0	0	0	2	1	1	55	248	0	54	2								-3.401491	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMX4	56255	broad.mit.edu	37	20	7963222	7963222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963222C>A	ENST00000246024.2	-	8	941	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4			17					cctcCGCATCCTGCAACTGTT	0.418000																								0							SO:0001583	missense			ENST00000246024.2	1	1	hg19	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583302	0.46006	.	.	ENSG00000125827	ENST00000246024	T	0.11495	2.77	5.84	4.71	0.59529	.	0.572613	0.17713	N	0.164518	T	0.12603	0.0306	M	0.63428	1.95	0.31062	N	0.71406	P	0.37864	0.61	B	0.34873	0.191	T	0.03545	-1.1026	10	0.49607	T	0.09	-3.9684	10.6879	0.45854	0.0:0.9007:0.0:0.0993	.	242	Q9H1E5	TMX4_HUMAN	H	242	ENSP00000246024:Q242H	ENSP00000246024:Q242H	Q	-	3	2	TMX4	7911222	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.100000	0.41777	2.763000	0.94921	0.557000	0.71058	CAG		TCGA-IB-7651-01A-11D-2154-08	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	1	0	1	44	179	0	45	1	1	36	236	0	45	2		0	0	0	0	0	2	1	1	43	178	0	45	2								-3.432325	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCB1	23236	broad.mit.edu	37	20	8113379	8113379	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:8113379A>C	ENST00000338037.6	+	1	108	c.81A>C	c.(79-81)aaA>aaC	p.K27N	PLCB1_ENST00000378641.3_Missense_Mutation_p.K27N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)			95					AGGGCACCAAATTCGTCAAGT	0.682000																								0							SO:0001583	missense			ENST00000338037.6	1	1	hg19	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312533	0.40895	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	T	0.42787	0.1218	L	0.55103	1.725	0.43896	D	0.996524	B;B;D	0.60575	0.0;0.003;0.988	B;B;P	0.50754	0.002;0.007;0.649	T	0.34925	-0.9809	10	0.36615	T	0.2	.	6.0285	0.19667	0.7487:0.166:0.0853:0.0	.	27;27;26	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	N	27;27;27;26	ENSP00000367908:K27N;ENSP00000338185:K27N;ENSP00000367904:K27N;ENSP00000384001:K26N	ENSP00000338185:K27N	K	+	3	2	PLCB1	8061379	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.199000	0.42715	1.929000	0.55896	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3	0	0	0	31	141	0	23	0	1.584570e-01	0	4	0	23	2		0	0	0	0	0	2	1	1	31	140	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PLCB4	5332	broad.mit.edu	37	20	9389787	9389787	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9389787A>G	ENST00000378493.1	+	20	1937	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000378501.2_Missense_Mutation_p.N641S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4			87					ATTTTCTGGAACGCTGGCTGC	0.468000																								0							SO:0001583	missense			ENST00000378493.1	1	1	hg19	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750074	0.89753	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.92	5.92	0.95590	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.080904	0.85682	D	0.000000	T	0.76630	0.4014	L	0.45285	1.41	0.80722	D	1	D;B;D;D	0.65815	0.968;0.262;0.995;0.993	P;B;D;P	0.71870	0.693;0.086;0.975;0.841	T	0.78710	-0.2098	10	0.87932	D	0	.	16.3544	0.83230	1.0:0.0:0.0:0.0	.	653;488;641;641	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	641;653;641;641;641;489	ENSP00000334105:N641S;ENSP00000367734:N653S;ENSP00000278655:N641S;ENSP00000367754:N641S;ENSP00000367762:N641S;ENSP00000390616:N489S	ENSP00000278655:N641S	N	+	2	0	PLCB4	9337787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.265000	0.75225	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2	1	0	1	36	124	0	37	0	0	0	1	0	37	2		0	0	0	0	0	2	1	1	35	121	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCB4	5332	broad.mit.edu	37	20	9404500	9404500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9404500C>T	ENST00000378493.1	+	24	2404	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.R797*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4			87					AGCCGGATATCGACACATTTC	0.448000																								0							SO:0001587	stop_gained			ENST00000378493.1	0	1	hg19	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	41	9.083261	0.99061	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.72	3.64	0.41730	.	0.057043	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3444	0.60564	0.4142:0.5858:0.0:0.0	.	.	.	.	X	797;809;797;797;797;645	.	ENSP00000278655:R797X	R	+	1	2	PLCB4	9352500	0.998000	0.40836	0.948000	0.38648	0.696000	0.40369	1.218000	0.32467	1.391000	0.46566	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2	1	0	1	28	146	0	47	0	1.299751e-01	1	3	0	47	2		0	0	0	0	0	2	1	1	28	142	0	46	2								-20.000000	1	1	121408	1	31	1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
RSPO4	343637	broad.mit.edu	37	20	944697	944697	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:944697G>A	ENST00000217260.4	-	4	572	c.476C>T	c.(475-477)tCg>tTg	p.S159L	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4			7					GCCCCAAGCCGAGCCGCAGGT	0.632000																								0							SO:0001583	missense			ENST00000217260.4	1	1	hg19	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	G	6.449	0.450969	0.12223	.	.	ENSG00000101282	ENST00000217260	T	0.79352	-1.26	4.35	3.4	0.38934	.	0.869683	0.09951	N	0.734660	T	0.65207	0.2669	L	0.39085	1.19	0.09310	N	0.999998	B	0.33022	0.394	B	0.28465	0.09	T	0.57785	-0.7751	10	0.59425	D	0.04	-14.9986	4.7996	0.13290	0.1985:0.1798:0.6217:0.0	.	159	Q2I0M5	RSPO4_HUMAN	L	159	ENSP00000217260:S159L	ENSP00000217260:S159L	S	-	2	0	RSPO4	892697	0.414000	0.25408	0.156000	0.22583	0.047000	0.14425	0.871000	0.28023	0.969000	0.38237	0.298000	0.19748	TCG		TCGA-IB-7651-01A-11D-2154-08	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	1	0	0	76	241	1	33		0	0	0	1	33	2		0	0	0	0	0	2	1	9.998949e-01	69	210	1	19	35								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAK7	57144	broad.mit.edu	37	20	9538310	9538310	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9538310C>A	ENST00000378429.3	-	8	2234	c.1688G>T	c.(1687-1689)gGa>gTa	p.G563V	PAK7_ENST00000353224.5_Missense_Mutation_p.G563V|PAK7_ENST00000378423.1_Missense_Mutation_p.G563V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7			81			COAD - Colon adenocarcinoma(9;0.194)		GTGAATCACTCCTTGGTTATG	0.438000																								0							SO:0001583	missense			ENST00000378429.3	1	1	hg19	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047858	0.93740	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.16897	2.31;2.31;2.31	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70992	-0.4721	9	.	.	.	.	19.8171	0.96573	0.0:1.0:0.0:0.0	.	563;563	B0AZM9;Q9P286	.;PAK7_HUMAN	V	563;563;563;511	ENSP00000367686:G563V;ENSP00000322957:G563V;ENSP00000367679:G563V	.	G	-	2	0	PAK7	9486310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.678000	0.91216	0.643000	0.83706	GGA		TCGA-IB-7651-01A-11D-2154-08	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1	1	0	1	76	311	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	1	76	303	0	68	2								-3.577984	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAK7	57144	broad.mit.edu	37	20	9546846	9546846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9546846C>T	ENST00000378429.3	-	6	1722	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	PAK7_ENST00000353224.5_Silent_p.S392S|PAK7_ENST00000378423.1_Silent_p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	p.S392S(1)		81			COAD - Colon adenocarcinoma(9;0.194)		AGATGTACTGCGAACTGCTCT	0.597000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000378429.3	1	1	hg19	CCDS13107.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1	1	0	1	108	449	0	96	0	0	0	1	0	96	2		0	0	0	0	0	2	1	1	108	438	0	94	2								-20.000000	1	1	0	0		1	1	2	3	1.995265	0	0.170000	2.060000	1.742115e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPTE	7179	broad.mit.edu	37	21	10914364	10914364	+	Splice_Site	SNP	G	G	A	rs147105244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10914364G>A	ENST00000361285.4	-	21	1684	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TPTE_ENST00000298232.7_Splice_Site_p.S434L|TPTE_ENST00000342420.5_Splice_Site_p.S414L|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	p.S434L(1)|p.S452L(1)		130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		TTCTCTTACCGAACATTTTCC	0.323000																								2	Substitution - Missense(2)						SO:0001630	splice_region_variant			ENST00000361285.4	0	1	hg19	CCDS13560.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	6.164	0.398388	0.11696	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85258	-1.96;-1.96;-1.96	2.15	-4.3	0.03710	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.599517	0.17053	U	0.188874	T	0.68559	0.3014	L	0.36672	1.1	0.09310	N	1	B;B;B	0.23442	0.001;0.003;0.085	B;B;B	0.20184	0.005;0.005;0.028	T	0.54476	-0.8288	10	0.39692	T	0.17	3.7407	0.1082	0.00054	0.262:0.2651:0.1721:0.3007	.	414;434;452	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	434;452;414	ENSP00000298232:S434L;ENSP00000355208:S452L;ENSP00000344441:S414L	ENSP00000298232:S434L	S	-	2	0	TPTE	9936235	0.008000	0.16893	0.024000	0.17045	0.133000	0.20885	-1.503000	0.02277	-1.193000	0.02688	0.184000	0.17185	TCG		TCGA-IB-7651-01A-11D-2154-08	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	0	0	0	19	220	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.999904e-01	18	215	0	46	2								-2.578441	1	1	121394	375	50	1	1	5	6	2.045119	0	0.170000	2.060000	3.805970e-01	0.990000	0.800000	1.000000	1.000000	0.984447	0.990000	1	9.900000e-01	1
TPTE	7179	broad.mit.edu	37	21	10973777	10973777	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10973777C>A	ENST00000361285.4	-	4	287		c.e4-1		TPTE_ENST00000298232.7_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology			130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		TGTGGGTGGACTAGAGGATGT	0.363000																								0							SO:0001630	splice_region_variant			ENST00000361285.4	0	1	hg19	CCDS13560.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	1	0	0	19	293	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	9.999752e-01	17	260	0	58	2								-19.993530	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.700000	0.440000	1.000000	1.000000	0.717290	0.700000	0	5.600000e-01	8.700000e-01
BAGE2	85319	broad.mit.edu	37	21	11039076	11039076	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11039076C>A	ENST00000470054.1	-	0	1127							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2						Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		AGTTCAGAATCTTCTTTCTGT	0.393000																								0											ENST00000470054.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	0	0	58	2093	0	416		0	0	0	0	416	2	1	1	22	1354	0	1168	2	1	1	44	2033	0	414	2								-20.000000	1	0	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.300000	0.230000	0.390000	0.310000	0.315004	0.300000	0	2.600000e-01	3.500000e-01
BAGE2	85319	broad.mit.edu	37	21	11098737	11098737	+	RNA	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11098737T>A	ENST00000470054.1	-	0	188							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2						Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		ccggccgccatcttactgctc	0.637000																								0											ENST00000470054.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	0	0	22	1260	0	252		0	0	0	0	252	2		0	0	0	0	0	2	1	9.999973e-01	21	1182	0	247	2								-3.319889	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.190000	0.120000	0.290000	0.200000	0.205548	0.190000	0	1.500000e-01	2.500000e-01
RBM11	54033	broad.mit.edu	37	21	15592002	15592002	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15592002G>T	ENST00000400577.3	+	2	224	c.215G>T	c.(214-216)gGa>gTa	p.G72V	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11			16					TTGCTGAATGGAATTCGTTTA	0.393000																								0							SO:0001583	missense			ENST00000400577.3	0	1	hg19	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467415	0.84533	.	.	ENSG00000185272	ENST00000400577	D	0.82255	-1.59	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000016	D	0.94716	0.8295	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96230	0.9167	10	0.72032	D	0.01	-19.4528	18.9174	0.92512	0.0:0.0:1.0:0.0	.	72	P57052	RBM11_HUMAN	V	72	ENSP00000383421:G72V	ENSP00000383421:G72V	G	+	2	0	RBM11	14513873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.000000	0.70678	2.661000	0.90470	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	1	0	1	22	135	0	16	0	2.129612e-01	0	6	0	16	2		0	0	0	0	0	2	1	9.999992e-01	21	134	0	16	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.998456	0.990000	1	9.900000e-01	1
HSPA13	6782	broad.mit.edu	37	21	15747996	15747996	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15747996A>G	ENST00000285667.3	-	4	792	c.725T>C	c.(724-726)aTg>aCg	p.M242T	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13			13					GGTTAGAAACATCCCTCCTTG	0.532000																								0							SO:0001583	missense			ENST00000285667.3	1	1	hg19	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509572	0.85282	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.00922	5.54;5.54	5.86	5.86	0.93980	.	0.102150	0.85682	D	0.000000	T	0.02418	0.0074	N	0.13198	0.31	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71034	-0.4709	10	0.87932	D	0	-27.1554	16.2487	0.82472	1.0:0.0:0.0:0.0	.	242	P48723	HSP13_HUMAN	T	242;34	ENSP00000285667:M242T;ENSP00000441986:M34T	ENSP00000285667:M242T	M	-	2	0	HSPA13	14669867	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.390000	0.79816	2.243000	0.73865	0.523000	0.50628	ATG		TCGA-IB-7651-01A-11D-2154-08	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1	1	0	1	91	373	0	90	1	1	30	108	0	90	2		0	0	0	0	0	2	1	1	85	359	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA13	6782	broad.mit.edu	37	21	15753528	15753528	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15753528A>C	ENST00000285667.3	-	2	429	c.362T>G	c.(361-363)tTt>tGt	p.F121C	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_De_novo_Start_InFrame	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13			13					ACTTACCTTAAATGGGTATCT	0.328000																								0							SO:0001583	missense			ENST00000285667.3	1	1	hg19	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299836	0.81136	.	.	ENSG00000155304	ENST00000285667	T	0.01084	5.36	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00451	-1.1731	10	0.87932	D	0	-21.1643	15.8391	0.78831	1.0:0.0:0.0:0.0	.	121	P48723	HSP13_HUMAN	C	121	ENSP00000285667:F121C	ENSP00000285667:F121C	F	-	2	0	HSPA13	14675399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.958000	0.93099	2.144000	0.66660	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1	1	0	1	107	354	0	74	1	1	24	72	0	74	2		0	0	0	0	0	2	1	1	105	347	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRIP1	8204	broad.mit.edu	37	21	16339699	16339699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:16339699C>T	ENST00000400202.1	-	3	1527	c.815G>A	c.(814-816)aGc>aAc	p.S272N	NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N|NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1			39					ATGGGCTTCGCTTGACAGAAG	0.453000																								0							SO:0001583	missense			ENST00000400202.1	1	1	hg19	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398344	0.83120	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.22134	1.97;1.97;1.97	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.87932	D	0	-15.7639	20.4753	0.99175	0.0:1.0:0.0:0.0	.	272	P48552	NRIP1_HUMAN	N	272	ENSP00000383060:S272N;ENSP00000383063:S272N;ENSP00000327213:S272N	ENSP00000327213:S272N	S	-	2	0	NRIP1	15261570	1.000000	0.71417	0.975000	0.42487	0.967000	0.64934	7.487000	0.81328	2.844000	0.97970	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	1	0	1	71	384	0	108	1	9.997926e-01	7	62	0	108	2		0	0	0	0	0	2	1	1	70	375	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP25	29761	broad.mit.edu	37	21	17181149	17181149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181149C>T	ENST00000285679.6	+	8	1171	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.H268Y|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y|USP25_ENST00000547201.1_3'UTR	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25			52					TGAGTTTACACACAAATTATT	0.348000																								0							SO:0001583	missense			ENST00000285679.6	1	1	hg19	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693941	0.88735	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.30182	1.54;1.54;1.54	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	1.0;0.999;0.988	T	0.64719	-0.6341	10	0.72032	D	0.01	.	18.3146	0.90215	0.0:1.0:0.0:0.0	.	268;268;268	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	Y	268	ENSP00000285681:H268Y;ENSP00000285679:H268Y;ENSP00000383044:H268Y	ENSP00000285679:H268Y	H	+	1	0	USP25	16103020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.380000	0.81148	0.591000	0.81541	CAC		TCGA-IB-7651-01A-11D-2154-08	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1	1	0	1	30	151	0	32	1	9.944150e-01	12	32	0	32	2		0	0	0	0	0	2	1	1	29	151	0	32	2								-20.000000	1	0	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999947	0.990000	1	9.900000e-01	1
USP25	29761	broad.mit.edu	37	21	17181187	17181187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181187G>A	ENST00000285679.6	+	8	1209	c.840G>A	c.(838-840)atG>atA	p.M280I	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.M280I|USP25_ENST00000400183.2_Missense_Mutation_p.M280I|USP25_ENST00000547201.1_3'UTR	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25			52					CCTTCCAAATGAAAGCTGAAG	0.343000																								0							SO:0001583	missense			ENST00000285679.6	1	1	hg19	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903517	0.17760	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.29917	1.55;1.55;1.55	4.83	3.87	0.44632	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.257684	0.45126	D	0.000399	T	0.07369	0.0186	N	0.00656	-1.285	0.32912	D	0.514673	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.13335	-1.0513	10	0.22109	T	0.4	.	3.0751	0.06243	0.085:0.242:0.4095:0.2635	.	280;280;280	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	I	280	ENSP00000285681:M280I;ENSP00000285679:M280I;ENSP00000383044:M280I	ENSP00000285679:M280I	M	+	3	0	USP25	16103058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.166000	0.42406	2.380000	0.81148	0.591000	0.81541	ATG		TCGA-IB-7651-01A-11D-2154-08	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1	1	0	1	27	159	0	37	1	9.997229e-01	8	71	0	37	2		0	0	0	0	0	2	1	1	26	159	0	37	2								-20.000000	1	0	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999539	0.990000	1	9.900000e-01	1
BTG3	10950	broad.mit.edu	37	21	18981409	18981409	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:18981409T>C	ENST00000348354.6	-	2	310	c.54A>G	c.(52-54)aaA>aaG	p.K18K	BTG3_ENST00000339775.6_Silent_p.K18K|BTG3_ENST00000464058.1_5'UTR	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3			8					ACTTATCATGTTTTCGAACTA	0.323000																								0							SO:0001819	synonymous_variant			ENST00000348354.6	1	1	hg19	CCDS13569.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	1	0	0	75	341	0	54	1	9.999997e-01	41	60	0	54	2		0	0	0	0	0	2	1	1	73	338	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C21orf91	54149	broad.mit.edu	37	21	19169392	19169392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19169392G>A	ENST00000400558.3	-	3	261	c.171C>T	c.(169-171)ggC>ggT	p.G57G	C21orf91_ENST00000284881.4_Silent_p.G57G|C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Silent_p.G57G	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91			9					AGTCTTTATGGCCCCTTAATG	0.338000																								0							SO:0001819	synonymous_variant			ENST00000400558.3	1	1	hg19	CCDS42909.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	1	0	1	54	312	0	61	1	9.860787e-01	10	31	0	61	2		0	0	0	0	0	2	1	1	54	309	0	61	2								-19.999990	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TMPRSS15	5651	broad.mit.edu	37	21	19666603	19666603	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19666603C>T	ENST00000284885.3	-	21	2503	c.2470G>A	c.(2470-2472)Gca>Aca	p.A824T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15			85					ACGCAGTGTGCGGCGGACACC	0.582000																								0							SO:0001583	missense			ENST00000284885.3	0	1	hg19	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207194	0.95033	.	.	ENSG00000154646	ENST00000284885	D	0.96940	-4.18	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99529	1.0960	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	824	P98073	ENTK_HUMAN	T	824	ENSP00000284885:A824T	.	A	-	1	0	TMPRSS15	18588474	1.000000	0.71417	0.957000	0.39632	0.964000	0.63967	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCA		TCGA-IB-7651-01A-11D-2154-08	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	1	0	0	61	339	0	66	0	4.128173e-01	0	9	0	66	2		0	0	0	0	0	2	1	1	61	323	0	65	2								-3.021359	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TMPRSS15	5651	broad.mit.edu	37	21	19755999	19755999	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19755999A>G	ENST00000284885.3	-	4	474	c.441T>C	c.(439-441)aaT>aaC	p.N147N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15			85					GGCTGGATTTATTTGCTTCAA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000284885.3	1	1	hg19	CCDS13571.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	1	0	0	14	223	0	40	0	3.626055e-02	0	5	0	40	2		0	0	0	0	0	2	1	9.997450e-01	14	218	0	40	2								-17.697750	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.680000	0.390000	1.000000	1.000000	0.700803	0.680000	0	5.200000e-01	8.700000e-01
NCAM2	4685	broad.mit.edu	37	21	22658710	22658710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22658710G>A	ENST00000400546.1	+	4	708	c.459G>A	c.(457-459)gaG>gaA	p.E153E	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Silent_p.E178E|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2			108		Lung NSC(9;0.195)			ATCATAATGAGGAAGTCACCA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000400546.1	1	1	hg19	CCDS42910.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1	42	237	0	55	0	2.922689e-01	0	7	0	55	2		0	0	0	0	0	2	1	1	38	236	0	54	2								-2.850110	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
NCAM2	4685	broad.mit.edu	37	21	22664525	22664525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22664525G>T	ENST00000400546.1	+	5	832	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2			108		Lung NSC(9;0.195)			GGCCAGGGGAGAAATTGACTT	0.338000																								0							SO:0001587	stop_gained			ENST00000400546.1	0	1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876320	0.97904	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.6042	18.2691	0.90062	0.0:0.0:1.0:0.0	.	.	.	.	X	195;53;220	.	ENSP00000284894:E53X	E	+	1	0	NCAM2	21586396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.733000	0.93635	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1	39	266	0	71	0	1.310129e-01	0	5	0	71	2		0	0	0	0	0	2	1	1	39	259	0	71	2								-17.120240	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999497	0.990000	1	9.900000e-01	1
NCAM2	4685	broad.mit.edu	37	21	22746295	22746295	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22746295T>G	ENST00000400546.1	+	9	1406	c.1157T>G	c.(1156-1158)aTt>aGt	p.I386S	NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S|NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2			108		Lung NSC(9;0.195)			GCAAGCAGAATTGGAGGGCAT	0.368000																								0							SO:0001583	missense			ENST00000400546.1	1	1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594621	0.86953	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.66638	-0.22;-0.22;-0.22	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.984	T	0.76645	-0.2883	10	0.54805	T	0.06	-19.527	14.5628	0.68153	0.0:0.0:0.0:1.0	.	411;244;386	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	386;244;411	ENSP00000383392:I386S;ENSP00000284894:I244S;ENSP00000441887:I411S	ENSP00000284894:I244S	I	+	2	0	NCAM2	21668166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.116000	0.64780	0.524000	0.50904	ATT		TCGA-IB-7651-01A-11D-2154-08	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1	61	386	0	95	0	1.933185e-02	0	2	0	95	2		0	0	0	0	0	2	1	1	60	375	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
NCAM2	4685	broad.mit.edu	37	21	22804437	22804437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22804437C>T	ENST00000400546.1	+	12	1739	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2			108		Lung NSC(9;0.195)			GACGTGCCATCCAGTCCCTAT	0.443000																								0							SO:0001583	missense			ENST00000400546.1	1	1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959169	0.74016	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.58797	0.31;0.31	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.85261	0.1050	10	0.87932	D	0	-10.8145	16.9239	0.86170	0.0:1.0:0.0:0.0	.	355;497	B7Z5K2;O15394	.;NCAM2_HUMAN	F	497;355	ENSP00000383392:S497F;ENSP00000284894:S355F	ENSP00000284894:S355F	S	+	2	0	NCAM2	21726308	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	6.249000	0.72427	2.328000	0.79073	0.505000	0.49811	TCC		TCGA-IB-7651-01A-11D-2154-08	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1	35	201	0	66	0	5.086177e-01	0	11	0	66	2		0	0	0	0	0	2	1	1	35	198	0	66	2								-17.839300	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999912	0.990000	1	9.900000e-01	1
NCAM2	4685	broad.mit.edu	37	21	22840987	22840987	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22840987A>G	ENST00000400546.1	+	14	2028	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	NCAM2_ENST00000284894.7_Silent_p.E451E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2			108		Lung NSC(9;0.195)			ATCTAGGTGAACCAAGTCCTC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000400546.1	1	1	hg19	CCDS42910.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	0	33	245	0	57	0	2.519631e-01	0	8	0	57	2		0	0	0	0	0	2	1	1	32	238	0	56	2								-14.365840	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.960000	1.000000	1.000000	0.997418	0.990000	1	9.900000e-01	1
NCAM2	4685	broad.mit.edu	37	21	22849623	22849623	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849623A>C	ENST00000400546.1	+	15	2157	c.1908A>C	c.(1906-1908)gaA>gaC	p.E636D	NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2			108		Lung NSC(9;0.195)			AAGATAAGGAAGACCAATGGC	0.348000																								0							SO:0001583	missense			ENST00000400546.1	1	1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742087	0.69418	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.59224	0.28;0.28	5.8	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.50333	1.59	0.80722	D	1	P;P	0.50617	0.937;0.937	D;D	0.72982	0.979;0.979	T	0.66432	-0.5925	10	0.42905	T	0.14	-31.9442	10.259	0.43414	0.9222:0.0:0.0778:0.0	.	494;636	B7Z5K2;O15394	.;NCAM2_HUMAN	D	636;494	ENSP00000383392:E636D;ENSP00000284894:E494D	ENSP00000284894:E494D	E	+	3	2	NCAM2	21771494	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.295000	0.65692	2.213000	0.71641	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1	39	230	0	40	0	3.350080e-01	0	8	0	40	2		0	0	0	0	0	2	1	1	38	227	0	39	2								-18.609900	1	0	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999935	0.990000	1	9.900000e-01	1
NCAM2	4685	broad.mit.edu	37	21	22849626	22849626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849626C>T	ENST00000400546.1	+	15	2160	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	NCAM2_ENST00000284894.7_Silent_p.D495D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2			108		Lung NSC(9;0.195)			ATAAGGAAGACCAATGGCTAG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000400546.1	1	1	hg19	CCDS42910.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	1	0	1	57	219	0	40	0	5.194067e-01	0	8	0	40	2		0	0	0	0	0	2	1	1	57	215	0	39	2								-20.000000	1	0	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAM2	58494	broad.mit.edu	37	21	27066137	27066137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27066137C>T	ENST00000480456.1	+	4	861	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V|JAM2_ENST00000312957.5_Missense_Mutation_p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	p.A104V(1)		19					AGAAGTGATGCGGGGAAATAT	0.388000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000480456.1	1	1	hg19	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683903	0.88639	7.65E-4	0.0	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165192	0.53938	D	0.000058	T	0.77837	0.4190	L	0.50333	1.59	0.42849	D	0.994071	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.98;0.993;0.993;0.949;0.989	T	0.77560	-0.2542	10	0.54805	T	0.06	.	16.5363	0.84373	0.0:1.0:0.0:0.0	.	68;104;104;104;104	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	V	104;104;104;104;104;68	ENSP00000420419:A104V;ENSP00000383376:A104V;ENSP00000318416:A104V;ENSP00000392611:A68V	ENSP00000318416:A104V	A	+	2	0	JAM2	25988008	0.997000	0.39634	0.997000	0.53966	0.910000	0.53928	4.433000	0.59929	2.890000	0.99128	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1	1	0	1	81	365	0	73	0	9.996943e-01	0	56	0	73	2		0	0	0	0	0	2	1	1	80	360	0	73	2								-3.159550	1	1	120892	6	42	1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAM2	58494	broad.mit.edu	37	21	27071173	27071173	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27071173T>C	ENST00000480456.1	+	5	1129	c.579T>C	c.(577-579)aaT>aaC	p.N193N	JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N|JAM2_ENST00000312957.5_Silent_p.N193N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2			19					ACACAATGAATACAAAAACTG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000480456.1	1	1	hg19	CCDS42911.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1	1	0	1	94	404	0	85	0	9.996909e-01	0	53	0	85	2		0	0	0	0	0	2	1	1	90	398	0	84	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABPA	2551	broad.mit.edu	37	21	27136617	27136617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27136617C>T	ENST00000354828.3	+	8	1426	c.899C>T	c.(898-900)cCg>cTg	p.P300L	GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa			24					CAAAGAGCGCCGAGGATTTCA	0.358000																								0							SO:0001583	missense			ENST00000354828.3	1	1	hg19	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344595	0.61073	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13657	2.57;2.57	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.085290	0.50627	D	0.000119	T	0.09423	0.0232	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	B	0.35353	0.201	T	0.29181	-1.0020	10	0.25106	T	0.35	.	17.7202	0.88349	0.0:1.0:0.0:0.0	.	300	Q06546	GABPA_HUMAN	L	300	ENSP00000346886:P300L;ENSP00000382948:P300L	ENSP00000346886:P300L	P	+	2	0	GABPA	26058488	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.331000	0.65905	2.586000	0.87340	0.591000	0.81541	CCG		TCGA-IB-7651-01A-11D-2154-08	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	1	0	1	63	303	0	49	1	1	20	109	0	49	2		0	0	0	0	0	2	1	1	62	297	0	49	2								-2.760817	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABPA	2551	broad.mit.edu	37	21	27141374	27141374	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27141374T>G	ENST00000354828.3	+	10	1723	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa			24					GTGTACAAGTTTGTCTGTGAC	0.363000																								0							SO:0001583	missense			ENST00000354828.3	1	1	hg19	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846514	0.71603	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.36699	1.24;1.24	5.87	5.87	0.94306	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.046101	0.85682	D	0.000000	T	0.73458	0.3589	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83257	-0.0050	10	0.87932	D	0	.	15.9351	0.79698	0.0:0.0:0.0:1.0	.	399	Q06546	GABPA_HUMAN	C	399	ENSP00000346886:F399C;ENSP00000382948:F399C	ENSP00000346886:F399C	F	+	2	0	GABPA	26063245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	2.247000	0.74100	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	1	0	1	167	715	0	193	1	9.999996e-01	23	65	0	193	2		0	0	0	0	0	2	1	1	166	681	0	191	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APP	351	broad.mit.edu	37	21	27354787	27354787	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27354787G>T	ENST00000346798.3	-	9	1127	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	APP_ENST00000359726.3_Missense_Mutation_p.P309H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000358918.3_Missense_Mutation_p.P365H|APP_ENST00000448388.2_Missense_Mutation_p.P255H|APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000357903.3_Missense_Mutation_p.P346H|APP_ENST00000354192.3_Missense_Mutation_p.P234H	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein			22		Breast(209;0.00295)			TGCTGTTGTAGGAACTATAAA	0.418000																								0							SO:0001583	missense			ENST00000346798.3	1	1	hg19	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135759	0.77662	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;T;T;D;D;D;T;D;D	0.96913	-2.24;0.94;0.94;-2.24;-2.07;-4.17;0.94;-2.24;-2.22	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.988;1.0;0.963;0.985;1.0	P;D;P;D;P;P;D	0.97110	0.797;1.0;0.866;0.997;0.694;0.694;0.999	D	0.96487	0.9361	10	0.18276	T	0.48	-8.6512	14.2738	0.66167	0.0719:0.0:0.9281:0.0	.	255;309;341;234;290;346;365	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	H	365;234;290;346;365;309;255;341;309	ENSP00000284981:P365H;ENSP00000346129:P234H;ENSP00000345463:P290H;ENSP00000350578:P346H;ENSP00000351796:P365H;ENSP00000352760:P309H;ENSP00000388538:P255H;ENSP00000387483:P341H;ENSP00000398879:P309H	ENSP00000284981:P365H	P	-	2	0	APP	26276658	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.263000	0.95617	1.540000	0.49301	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	1	0	1	46	212	0	48	1	1	394	2260	0	48	2		0	0	0	0	0	2	1	1	45	208	0	48	2								-3.067111	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APP	351	broad.mit.edu	37	21	27394204	27394204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27394204C>T	ENST00000346798.3	-	6	850	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	APP_ENST00000359726.3_Missense_Mutation_p.A273T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000474136.1_5'UTR|APP_ENST00000358918.3_Missense_Mutation_p.A273T|APP_ENST00000448388.2_Missense_Mutation_p.A238T|APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000357903.3_Missense_Mutation_p.A273T|APP_ENST00000354192.3_Missense_Mutation_p.A217T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein			22		Breast(209;0.00295)			gtggtggtggcaatgctggtg	0.537000																								0							SO:0001583	missense			ENST00000346798.3	1	1	hg19	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.740328|2.740328	0.49045|0.49045	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850;ENST00000415997	T;D;D;T;T;D;D;T;T|.	0.96300|.	1.89;-3.95;-3.95;1.89;1.89;-3.97;-3.95;1.89;1.89|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.304797|.	0.34411|.	N|.	0.003993|.	T|T	0.39118|0.39118	0.1066|0.1066	N|N	0.14661|0.14661	0.345|0.345	0.35957|0.35957	D|D	0.834349|0.834349	D;P;P;P;P;P;P;P|.	0.67145|.	0.996;0.805;0.805;0.805;0.877;0.877;0.877;0.805|.	D;P;P;P;P;P;P;P|.	0.73708|.	0.981;0.483;0.483;0.483;0.682;0.682;0.682;0.483|.	T|T	0.43212|0.43212	-0.9405|-0.9405	10|5	0.30854|.	T|.	0.27|.	-13.2249|-13.2249	11.092|11.092	0.48121|0.48121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;238;217;268;217;273;273;273|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	T|Y	273;217;273;273;273;273;238;268;217|194;63	ENSP00000284981:A273T;ENSP00000346129:A217T;ENSP00000345463:A273T;ENSP00000350578:A273T;ENSP00000351796:A273T;ENSP00000352760:A273T;ENSP00000388538:A238T;ENSP00000387483:A268T;ENSP00000398879:A217T|.	ENSP00000284981:A273T|.	A|C	-|-	1|2	0|0	APP|APP	26316075|26316075	0.979000|0.979000	0.34478|0.34478	0.994000|0.994000	0.49952|0.49952	0.975000|0.975000	0.68041|0.68041	3.226000|3.226000	0.51254|0.51254	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GCC|TGC		TCGA-IB-7651-01A-11D-2154-08	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	1	0	1	24	137	0	39	1	1	451	2274	0	39	2		0	0	0	0	0	2	1	9.999997e-01	24	128	0	38	2								-13.626390	1	0	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	0.999405	0.990000	1	9.900000e-01	1
ADAMTS1	9510	broad.mit.edu	37	21	28210028	28210028	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28210028C>T	ENST00000284984.3	-	9	3228	c.2774G>A	c.(2773-2775)gGg>gAg	p.G925E		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1			42		Breast(209;0.000962)			GTAACCCTTCCCACAGGTCTT	0.488000																								0							SO:0001583	missense			ENST00000284984.3	1	1	hg19	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630108	0.87660	.	.	ENSG00000154734	ENST00000284984	T	0.70516	-0.49	5.52	4.62	0.57501	.	.	.	.	.	D	0.85150	0.5631	M	0.91663	3.23	0.80722	D	1	P	0.50066	0.931	P	0.60345	0.873	D	0.86873	0.2037	9	0.52906	T	0.07	.	14.8111	0.69996	0.0:0.9302:0.0:0.0698	.	925	Q9UHI8	ATS1_HUMAN	E	925	ENSP00000284984:G925E	ENSP00000284984:G925E	G	-	2	0	ADAMTS1	27131899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.615000	0.67702	2.873000	0.98535	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2	1	0	1	117	518	0	96	0	9.999833e-01	0	71	0	96	2		0	0	0	0	0	2	1	1	116	506	0	96	2								-3.301912	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS5	11096	broad.mit.edu	37	21	28296425	28296425	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28296425G>T	ENST00000284987.5	-	8	2861	c.2740C>A	c.(2740-2742)Cct>Act	p.P914T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5			72					TGGGAGAGAGGACATCCTTTT	0.507000													Esophageal Squamous(53;683 1080 10100 14424 45938)											0							SO:0001583	missense			ENST00000284987.5	1	1	hg19	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278957	0.10458	.	.	ENSG00000154736	ENST00000284987	T	0.50277	0.75	6.07	5.18	0.71444	.	0.419349	0.27846	N	0.017613	T	0.31104	0.0786	N	0.08118	0	0.22684	N	0.998853	B	0.02656	0.0	B	0.06405	0.002	T	0.15838	-1.0423	10	0.37606	T	0.19	.	16.9877	0.86345	0.0:0.0:0.8717:0.1282	.	914	Q9UNA0	ATS5_HUMAN	T	914	ENSP00000284987:P914T	ENSP00000284987:P914T	P	-	1	0	ADAMTS5	27218296	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.614000	0.46359	1.551000	0.49450	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1	1	0	1	66	251	0	58	0	7.454868e-01	0	12	0	58	2		0	0	0	0	0	2	1	1	65	251	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.956130	0	0.170000	2.060000	1.527154e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS5	11096	broad.mit.edu	37	21	28302267	28302267	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28302267G>A	ENST00000284987.5	-	7	2284	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5			72					CACATACTCCGCACTTGTCAT	0.443000													Esophageal Squamous(53;683 1080 10100 14424 45938)											0							SO:0001819	synonymous_variant			ENST00000284987.5	1	1	hg19	CCDS13579.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1	1	0	0	156	592	0	192	0	3.674904e-01	0	6	0	192	2		0	0	0	0	0	2	1	1	153	586	0	191	2								-20.000000	1	1	121412	2	41	1						0.170000	2.060000									0	0
USP16	10600	broad.mit.edu	37	21	30419159	30419159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419159G>A	ENST00000334352.4	+	15	1759	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	USP16_ENST00000399976.2_Missense_Mutation_p.V510I|USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000535828.1_Missense_Mutation_p.V139I	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16			34					AGAATATTGTGTCAACCAGAA	0.333000													Melanoma(92;625 1444 27493 34101 44971)											0							SO:0001583	missense			ENST00000334352.4	1	1	hg19	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	6.599	0.478861	0.12581	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.32272	3.4;3.39;3.39;1.46	5.08	0.955	0.19602	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.536420	0.03185	N	0.172530	T	0.14141	0.0342	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.31351	0.32;0.167;0.102;0.125	B;B;B;B	0.34301	0.179;0.085;0.086;0.14	T	0.19679	-1.0298	10	0.34782	T	0.22	.	5.4608	0.16615	0.322:0.0:0.5127:0.1653	.	139;495;509;510	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	I	509;510;510;139	ENSP00000382857:V509I;ENSP00000382858:V510I;ENSP00000334808:V510I;ENSP00000442855:V139I	ENSP00000334808:V510I	V	+	1	0	USP16	29341030	0.019000	0.18553	0.327000	0.25402	0.225000	0.24961	0.373000	0.20484	0.342000	0.23796	-0.749000	0.03505	GTC		TCGA-IB-7651-01A-11D-2154-08	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1	1	0	1	26	273	0	58	1	9.995981e-01	17	112	0	58	2		0	0	0	0	0	2	1	9.999999e-01	25	268	0	58	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.850000	0.600000	1.000000	1.000000	0.846462	0.850000	1	7.200000e-01	9.600000e-01
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16			34					AAACTGCTTTCTGTACTCTTG	0.363000													Melanoma(92;625 1444 27493 34101 44971)											0							SO:0001583	missense			ENST00000334352.4	1	1	hg19	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892456	0.72524	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.34072	3.3;3.3;3.3;1.38	4.99	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.52011	1.625	0.58432	D	0.999996	D;D;P;P	0.71674	0.994;0.998;0.955;0.592	D;D;P;P	0.80764	0.968;0.994;0.882;0.849	T	0.44772	-0.9306	10	0.62326	D	0.03	.	6.6131	0.22763	0.0:0.6976:0.0:0.3024	.	246;602;616;617	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	L	616;617;617;246	ENSP00000382857:F616L;ENSP00000382858:F617L;ENSP00000334808:F617L;ENSP00000442855:F246L	ENSP00000334808:F617L	F	+	3	2	USP16	29341353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.598000	0.36740	1.346000	0.45694	0.591000	0.81541	TTC		TCGA-IB-7651-01A-11D-2154-08	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1	0	0	1	75	648	0	142	1	9.999377e-01	20	100	0	142	2		0	0	0	0	0	2	1	1	74	641	0	139	2								-3.221883	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.820000	1.000000	1.000000	0.951078	0.950000	1	8.900000e-01	1
CCT8	10694	broad.mit.edu	37	21	30433572	30433572	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30433572A>G	ENST00000286788.4	-	13	1656		c.e13+1		CCT8_ENST00000470450.1_Splice_Site|AF129075.5_ENST00000457162.2_RNA|CCT8_ENST00000542732.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)			14					TTTTTCAAATACCTCAATATC	0.323000																								0							SO:0001630	splice_region_variant			ENST00000286788.4	1	1	hg19	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026103	0.75390	.	.	ENSG00000156261	ENST00000432178;ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5098	0.75772	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCT8	29355443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.655000	0.91098	2.304000	0.77564	0.528000	0.53228	.		TCGA-IB-7651-01A-11D-2154-08	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1	1	0	0	28	257	0	76	1	8.448699e-02	3	2	0	76	2		0	0	0	0	0	2	1	1	28	254	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.900000	0.660000	1.000000	1.000000	0.888302	0.900000	1	7.800000e-01	9.800000e-01
BACH1	571	broad.mit.edu	37	21	30698591	30698591	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30698591A>G	ENST00000399921.1	+	3	689	c.446A>G	c.(445-447)cAc>cGc	p.H149R	BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1			27					TTTTCATCACACTGTCAGAAA	0.373000																								0							SO:0001583	missense			ENST00000399921.1	1	1	hg19	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	A	4.953	0.177102	0.09443	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.76316	-0.54;-0.54;-0.87;-0.87;-1.01	5.45	1.81	0.25067	.	0.459050	0.23900	N	0.043458	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29274	-1.0017	10	0.22109	T	0.4	-4.9071	1.8311	0.03130	0.4783:0.1338:0.2672:0.1208	.	149	O14867	BACH1_HUMAN	R	149	ENSP00000286800:H149R;ENSP00000382805:H149R;ENSP00000400576:H149R;ENSP00000408605:H149R;ENSP00000392202:H149R	ENSP00000286800:H149R	H	+	2	0	BACH1	29620462	0.006000	0.16342	0.545000	0.28153	0.716000	0.41182	0.999000	0.29757	0.136000	0.18733	0.482000	0.46254	CAC		TCGA-IB-7651-01A-11D-2154-08	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	1	0	1	35	337	0	83	1	9.955495e-01	12	71	0	83	2		0	0	0	0	0	2	1	1	32	327	0	82	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.900000	0.680000	1.000000	1.000000	0.889937	0.900000	1	7.900000e-01	9.800000e-01
CLDN17	26285	broad.mit.edu	37	21	31538308	31538308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31538308G>A	ENST00000286808.3	-	1	663	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17			23					GTATTTCTTCGCTTATCTGTG	0.453000																								0							SO:0001587	stop_gained			ENST00000286808.3	0	1	hg19	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271533	0.59649	2.27E-4	0.0	ENSG00000156282	ENST00000286808	.	.	.	4.63	4.63	0.57726	.	1.504630	0.03641	N	0.239477	.	.	.	.	.	.	0.37719	D	0.924843	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	18.4009	0.90515	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000286808:R210X	R	-	1	2	CLDN17	30460179	0.543000	0.26434	0.020000	0.16555	0.034000	0.12701	4.862000	0.62976	2.865000	0.98341	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	1	0	1	37	307	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	37	302	0	78	2								-13.817710	1	1	121412	1	35	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.930000	0.740000	1.000000	1.000000	0.924379	0.930000	1	8.400000e-01	9.900000e-01
KRTAP24-1	643803	broad.mit.edu	37	21	31654660	31654660	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31654660G>T	ENST00000340345.4	-	1	616	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1			14					GGGGTTGGCAGCTGTTGGAAA	0.423000																								0							SO:0001583	missense			ENST00000340345.4	1	1	hg19	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	g	2.552	-0.303796	0.05495	.	.	ENSG00000188694	ENST00000340345	T	0.37058	1.22	4.93	0.789	0.18607	.	1.016370	0.07852	N	0.964882	T	0.20373	0.0490	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.29212	-1.0019	10	0.25106	T	0.35	-0.0641	6.5864	0.22622	0.0855:0.0:0.4606:0.454	.	197	Q3LI83	KR241_HUMAN	R	197	ENSP00000339238:S197R	ENSP00000339238:S197R	S	-	3	2	KRTAP24-1	30576531	0.139000	0.22563	0.000000	0.03702	0.001000	0.01503	0.131000	0.15870	0.022000	0.15160	-0.213000	0.12676	AGC		TCGA-IB-7651-01A-11D-2154-08	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	1	0	1	103	350	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	103	343	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.950000	1.000000	1.000000	0.994567	0.990000	1	9.800000e-01	1
KRTAP13-2	337959	broad.mit.edu	37	21	31744473	31744473	+	Missense_Mutation	SNP	C	C	T	rs146985381	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31744473C>T	ENST00000399889.2	-	1	84	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2			21					TGCTGGGTAGCGCAGGTAGTC	0.542000																								0							SO:0001583	missense			ENST00000399889.2	1	1	hg19	CCDS13589.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	c	0.083	-1.180788	0.01633	.	.	ENSG00000182816	ENST00000399889	T	0.02890	4.12	4.42	-5.38	0.02673	.	1.384710	0.05163	N	0.498224	T	0.02047	0.0064	L	0.48260	1.515	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.44574	-0.9319	10	0.15499	T	0.54	.	8.6683	0.34134	0.0:0.3444:0.1055:0.5501	.	20	Q52LG2	KR132_HUMAN	H	20	ENSP00000382777:R20H	ENSP00000382777:R20H	R	-	2	0	KRTAP13-2	30666344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.123000	0.00594	-1.931000	0.01055	-0.722000	0.03604	CGC		TCGA-IB-7651-01A-11D-2154-08	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1	1	0	0	62	639	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	58	618	0	131	2								-2.966611	1	1	121412	271	55	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.900000	0.720000	1.000000	1.000000	0.896272	0.900000	1	8.100000e-01	9.800000e-01
KRTAP13-1	140258	broad.mit.edu	37	21	31768629	31768629	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31768629C>A	ENST00000355459.2	+	1	238	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1			22					AGTCCAGCCCCTGCCAGACCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000355459.2	1	1	hg19	CCDS13590.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3	0	0	0	11	343	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	9.982642e-01	11	338	0	83	2								-3.525270	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.330000	0.170000	0.550000	0.330000	0.353300	0.330000	0	2.400000e-01	4.500000e-01
KRTAP13-4	284827	broad.mit.edu	37	21	31802628	31802628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31802628C>T	ENST00000334068.2	+	1	57	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4			15					AACTTCTCCTCCCGCTCCTTT	0.547000													NSCLC(196;2401 3038 18004 35753)											0							SO:0001583	missense			ENST00000334068.2	1	1	hg19	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	13.03	2.114494	0.37339	.	.	ENSG00000186971	ENST00000334068	T	0.09255	3.0	4.95	4.07	0.47477	.	0.174955	0.27052	U	0.021169	T	0.35941	0.0949	M	0.88450	2.955	0.30548	N	0.765701	D	0.89917	1.0	D	0.77004	0.989	T	0.45673	-0.9245	10	0.87932	D	0	.	10.1859	0.42998	0.0:0.9051:0.0:0.0949	.	12	Q3LI77	KR134_HUMAN	F	12	ENSP00000334834:S12F	ENSP00000334834:S12F	S	+	2	0	KRTAP13-4	30724499	0.030000	0.19436	0.837000	0.33122	0.029000	0.11900	1.872000	0.39549	1.394000	0.46624	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1	1	0	1	133	513	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	1	133	501	0	154	2								-20.000000	1	1	121412	1	34	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.960000	1.000000	1.000000	0.996200	0.990000	1	9.800000e-01	1
KRTAP15-1	254950	broad.mit.edu	37	21	31812700	31812700	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812700C>A	ENST00000334067.3	+	1	104	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1			11					TGGAAGTTACCTGAGGTATCC	0.463000																								0							SO:0001583	missense			ENST00000334067.3	1	1	hg19	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228604	0.39399	.	.	ENSG00000186970	ENST00000334067	T	0.03717	3.83	4.7	-0.183	0.13284	.	0.385350	0.18546	N	0.138051	T	0.11707	0.0285	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.03993	-1.0986	10	0.59425	D	0.04	-1.5745	7.2605	0.26201	0.0:0.5014:0.0:0.4986	.	19	Q3LI76	KR151_HUMAN	M	19	ENSP00000334866:L19M	ENSP00000334866:L19M	L	+	1	2	KRTAP15-1	30734571	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.369000	0.07533	-0.042000	0.13535	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1	1	0	0	33	324	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	31	314	0	72	2								-3.075755	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.890000	0.660000	1.000000	1.000000	0.881162	0.890000	1	7.800000e-01	9.800000e-01
KRTAP15-1	254950	broad.mit.edu	37	21	31812852	31812852	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812852A>C	ENST00000334067.3	+	1	256	c.207A>C	c.(205-207)agA>agC	p.R69S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1			11					CTTTGGCCAGATCCTATCAGA	0.512000																								0							SO:0001583	missense			ENST00000334067.3	1	1	hg19	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	A	2.037	-0.420979	0.04734	.	.	ENSG00000186970	ENST00000334067	T	0.02787	4.16	4.48	0.728	0.18260	.	0.648451	0.14151	N	0.337992	T	0.01421	0.0046	N	0.10916	0.065	0.09310	N	1	B	0.24920	0.114	B	0.31686	0.134	T	0.47573	-0.9107	10	0.02654	T	1	-0.1593	4.0417	0.09755	0.6046:0.2002:0.1952:0.0	.	69	Q3LI76	KR151_HUMAN	S	69	ENSP00000334866:R69S	ENSP00000334866:R69S	R	+	3	2	KRTAP15-1	30734723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.117000	0.18138	-0.331000	0.08364	AGA		TCGA-IB-7651-01A-11D-2154-08	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1	1	0	1	59	525	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	57	515	0	126	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.780000	1.000000	1.000000	0.935480	0.940000	1	8.600000e-01	1
KRTAP19-1	337882	broad.mit.edu	37	21	31852458	31852458	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31852458C>A	ENST00000390689.2	-	1	205	c.179G>T	c.(178-180)gGa>gTa	p.G60V		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1			6					TCCGTAGCCTCCAAAGCCAGA	0.522000																								0							SO:0001583	missense			ENST00000390689.2	1	1	hg19	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	C	3.115	-0.181755	0.06340	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.11277	2.79	2.28	1.38	0.22167	.	0.000000	0.39475	U	0.001353	T	0.12860	0.0312	.	.	.	0.19945	N	0.999949	P	0.45986	0.87	P	0.48400	0.576	T	0.07654	-1.0761	9	0.87932	D	0	.	4.9284	0.13905	0.0:0.8163:0.0:0.1837	.	60	Q8IUB9	KR191_HUMAN	V	60;51	ENSP00000375108:G60V	ENSP00000375108:G60V	G	-	2	0	KRTAP19-1	30774329	0.667000	0.27484	0.004000	0.12327	0.021000	0.10359	1.794000	0.38774	0.500000	0.27991	0.313000	0.20887	GGA		TCGA-IB-7651-01A-11D-2154-08	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2	0	0	0	44	1722	1	449		0	0	0	1	449	2		0	0	0	0	0	2	1	9.999415e-01	42	1647	1	439	15								-2.218334	0	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.260000	0.190000	0.350000	0.270000	0.272741	0.260000	0	2.200000e-01	3.100000e-01
KRTAP19-4	337971	broad.mit.edu	37	21	31869270	31869270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31869270G>T	ENST00000334058.2	-	1	181	c.159C>A	c.(157-159)tgC>tgA	p.C53*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	p.C53C(1)		9					ATCCTCCATAGCATGATGGGC	0.473000																								1	Substitution - coding silent(1)						SO:0001587	stop_gained			ENST00000334058.2	0	1	hg19	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509738	0.44660	.	.	ENSG00000186967	ENST00000334058	.	.	.	4.03	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.35907	D	0.830791	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.6235	0.17470	0.109:0.2007:0.6903:0.0	.	.	.	.	X	53	.	ENSP00000335567:C53X	C	-	3	2	KRTAP19-4	30791141	0.015000	0.18098	0.002000	0.10522	0.234000	0.25298	1.132000	0.31418	0.643000	0.30638	0.591000	0.81541	TGC		TCGA-IB-7651-01A-11D-2154-08	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2	1	0	0	79	893	0	195		0	0	0	0	195	2		0	0	0	0	0	2	1	1	76	872	0	193	2								-17.735160	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.850000	0.690000	0.990000	0.870000	0.860286	0.850000	1	7.700000e-01	9.400000e-01
KRTAP20-2	337976	broad.mit.edu	37	21	32007688	32007688	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32007688G>T	ENST00000330798.2	+	1	134	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2			8					TGGAGGCCTGGGCTGTGGCTA	0.547000																								0							SO:0001583	missense			ENST00000330798.2	1	1	hg19	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931851	0.34096	.	.	ENSG00000184032	ENST00000330798	T	0.19938	2.11	4.63	4.63	0.57726	.	0.000000	0.32147	U	0.006504	T	0.44329	0.1288	.	.	.	0.21355	N	0.999715	D	0.89917	1.0	D	0.79108	0.992	T	0.24728	-1.0152	9	0.87932	D	0	.	13.2097	0.59817	0.0:0.0:1.0:0.0	.	36	Q3LI61	KR202_HUMAN	C	36	ENSP00000330746:G36C	ENSP00000330746:G36C	G	+	1	0	KRTAP20-2	30929559	0.001000	0.12720	0.402000	0.26371	0.263000	0.26337	0.820000	0.27323	2.593000	0.87608	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3	0	0	0	23	624	0	159		0	0	0	0	159	2		0	0	0	0	0	2	1	9.999990e-01	23	600	0	157	2								-3.602695	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.380000	0.240000	0.550000	0.380000	0.392503	0.380000	0	3.000000e-01	4.700000e-01
KRTAP21-1	337977	broad.mit.edu	37	21	32127556	32127556	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32127556G>T	ENST00000335093.3	-	1	190	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1			7					cataaccacagccataatggg	0.542000																								0							SO:0001819	synonymous_variant			ENST00000335093.3	1	1	hg19	CCDS13606.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2	1	0	1	182	816	0	238		0	0	0	0	238	2		0	0	0	0	0	2	1	1	174	776	0	235	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.970000	1.000000	1.000000	0.997545	0.990000	1	9.900000e-01	1
KRTAP11-1	337880	broad.mit.edu	37	21	32253481	32253481	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32253481G>A	ENST00000332378.4	-	1	393	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1			18					CCACTGGTTGGCAGACACTGG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000332378.4	1	1	hg19	CCDS13608.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1	1	0	0	83	278	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	79	274	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.992103	0.990000	1	9.700000e-01	1
KRTAP19-8	728299	broad.mit.edu	37	21	32410635	32410635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32410635C>T	ENST00000382822.2	-	1	160	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8			3					GAATCCATAGCCTCCGTAGCC	0.532000																								0							SO:0001583	missense			ENST00000382822.2	1	1	hg19	CCDS42917.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296427	0.23650	.	.	ENSG00000206102	ENST00000382822	T	0.21031	2.03	4.05	3.14	0.36123	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.20563	N	0.999883	D	0.71674	0.998	D	0.65573	0.936	T	0.10337	-1.0634	8	0.87932	D	0	.	6.9701	0.24644	0.0:0.8686:0.0:0.1314	.	43	Q3LI54	KR198_HUMAN	D	43	ENSP00000372272:G43D	ENSP00000372272:G43D	G	-	2	0	KRTAP19-8	31332506	0.002000	0.14202	0.432000	0.26747	0.146000	0.21551	-0.033000	0.12246	1.009000	0.39289	0.505000	0.49811	GGC		TCGA-IB-7651-01A-11D-2154-08	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	1	0	0	75	737	0	192		0	0	0	0	192	2		0	0	0	0	0	2	1	1	75	721	0	187	2								-19.802210	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.920000	0.760000	1.000000	1.000000	0.920868	0.920000	1	8.400000e-01	9.900000e-01
TIAM1	7074	broad.mit.edu	37	21	32492816	32492816	+	Missense_Mutation	SNP	C	C	T	rs143032407	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32492816C>T	ENST00000286827.3	-	29	5117	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1			115					CTGTGCCATGCGGGACGCGTG	0.597000																								0							SO:0001583	missense			ENST00000286827.3	1	1	hg19	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310077	0.81247	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.45276	0.9;0.92	4.95	4.95	0.65309	.	0.078275	0.46442	D	0.000294	T	0.51193	0.1660	L	0.47716	1.5	0.42271	D	0.992052	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.57165	-0.7858	10	0.87932	D	0	.	18.2147	0.89881	0.0:1.0:0.0:0.0	.	1489;1549	F5GZ53;Q13009	.;TIAM1_HUMAN	H	1549;1489	ENSP00000286827:R1549H;ENSP00000441570:R1489H	ENSP00000286827:R1549H	R	-	2	0	TIAM1	31414687	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.771000	0.47670	2.294000	0.77228	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1	72	264	0	65	0	8.609027e-01	0	15	0	65	2		0	0	0	0	0	2	1	1	72	258	0	64	2								-3.496579	1	1	121412	4	36	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.930000	1.000000	1.000000	0.989190	0.990000	1	9.600000e-01	1
TIAM1	7074	broad.mit.edu	37	21	32526607	32526607	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32526607C>A	ENST00000286827.3	-	18	3600	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1			115					CGCAGATCACCTTGCGCAGCT	0.567000																								0							SO:0001583	missense			ENST00000286827.3	1	1	hg19	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955449	0.73902	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.67865	-0.29;-0.29	6.17	3.4	0.38934	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.69544	-0.5117	10	0.39692	T	0.17	.	10.7591	0.46253	0.0:0.7469:0.0:0.2531	.	983;983;1043	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	N	1043;884;983	ENSP00000286827:K1043N;ENSP00000441570:K983N	ENSP00000286827:K1043N	K	-	3	2	TIAM1	31448478	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	0.843000	0.27640	0.948000	0.37687	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1	67	239	0	63	0	8.428550e-01	0	14	0	63	2		0	0	0	0	0	2	1	1	66	233	0	63	2								-3.598257	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.920000	1.000000	1.000000	0.988197	0.990000	1	9.600000e-01	1
TIAM1	7074	broad.mit.edu	37	21	32537345	32537345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32537345C>T	ENST00000286827.3	-	17	3396	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	TIAM1_ENST00000541036.1_Silent_p.E915E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1			115					CTGGAGCGGTCTCAGCACTGC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000286827.3	1	1	hg19	CCDS13609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1	43	199	0	52	0	4.994140e-01	0	9	0	52	2		0	0	0	0	0	2	1	1	41	196	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.870000	1.000000	1.000000	0.972525	0.980000	1	9.300000e-01	1
TIAM1	7074	broad.mit.edu	37	21	32624336	32624336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32624336G>A	ENST00000286827.3	-	6	1604	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1			115					CTGACGAGCCGCATCCCCGGT	0.662000																								0							SO:0001583	missense			ENST00000286827.3	1	1	hg19	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465025	0.43839	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40476	1.03;1.03	4.86	4.86	0.63082	.	0.246207	0.40469	N	0.001093	T	0.23846	0.0577	N	0.17082	0.46	0.36777	D	0.884119	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.001	T	0.17107	-1.0380	10	0.26408	T	0.33	.	7.4756	0.27374	0.0909:0.2254:0.6837:0.0	.	378;378;378	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	378;219;378	ENSP00000286827:A378V;ENSP00000441570:A378V	ENSP00000286827:A378V	A	-	2	0	TIAM1	31546207	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	3.223000	0.51231	2.497000	0.84241	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1	63	574	0	128	0	1.508479e-01	0	7	0	128	2		0	0	0	0	0	2	1	1	62	564	0	119	2								-3.075755	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.780000	1.000000	1.000000	0.933494	0.940000	1	8.600000e-01	9.900000e-01
IFNAR2	3455	broad.mit.edu	37	21	34619141	34619141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34619141A>C	ENST00000342136.4	+	5	666	c.340A>C	c.(340-342)Agc>Cgc	p.S114R	AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000404220.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2			11				"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	AGAAGGATTCAGCGGGAACAC	0.468000																								0							SO:0001583	missense			ENST00000342136.4	1	1	hg19	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759776	0.31137	.	.	ENSG00000159110	ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073;ENST00000447980	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.02	-6.61	0.01818	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.463445	0.19627	U	0.109766	T	0.44307	0.1287	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.43327	-0.9398	10	0.02654	T	1	.	17.0179	0.86424	0.1906:0.8094:0.0:0.0	.	114;114;114	P48551-3;P48551;P48551-2	.;INAR2_HUMAN;.	R	114;114;114;114;114;42;42;138	ENSP00000371699:S114R;ENSP00000384309:S114R;ENSP00000371676:S114R;ENSP00000343957:S114R;ENSP00000343289:S114R;ENSP00000413160:S42R;ENSP00000403569:S42R;ENSP00000402311:S138R	ENSP00000343289:S114R	S	+	1	0	IFNAR2	33541011	0.001000	0.12720	0.000000	0.03702	0.459000	0.32528	-0.095000	0.11077	-1.170000	0.02769	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1	1	0	1	34	144	0	50	1	1	49	189	0	50	2		0	0	0	0	0	2	1	1	34	144	0	49	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.850000	1.000000	1.000000	0.966452	0.970000	1	9.200000e-01	1
IFNAR2	3455	broad.mit.edu	37	21	34635602	34635602	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34635602C>T	ENST00000342136.4	+	9	1671	c.1345C>T	c.(1345-1347)Cta>Tta	p.L449L	AP000295.9_ENST00000433395.2_Intron|IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Silent_p.L449L			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2			11				"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	CCCTCTGATGCTATCGTCTCA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000342136.4	1	1	hg19	CCDS13621.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1	0	0	0	56	1485	0	314	1	6.122791e-01	8	48	0	314	2		0	0	0	0	0	2	1	1	56	1466	0	312	2								-4.142744	1	1	121412	1	36	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.380000	0.290000	0.490000	0.390000	0.395534	0.380000	0	3.300000e-01	4.400000e-01
IL10RB	3588	broad.mit.edu	37	21	34652146	34652146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34652146G>A	ENST00000290200.2	+	4	529	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	AP000295.9_ENST00000433395.2_Silent_p.T268T	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta			14					GAATGAATACGAAACTTGGAC	0.378000													Melanoma(67;315 1275 21667 21943 44564)											0							SO:0001583	missense			ENST00000290200.2	1	1	hg19	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991208	0.35131	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.28454	1.61	5.75	2.9	0.33743	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.717553	0.14025	N	0.346532	T	0.31104	0.0786	M	0.82517	2.595	0.09310	N	1	D;P;D;D	0.56035	0.974;0.946;0.974;0.968	B;B;B;B	0.43701	0.428;0.346;0.428;0.302	T	0.27226	-1.0080	10	0.06757	T	0.87	-5.1489	5.5265	0.16960	0.1686:0.0:0.6735:0.1579	.	143;141;141;141	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	K	141	ENSP00000290200:E141K	ENSP00000290200:E141K	E	+	1	0	IL10RB	33574016	0.003000	0.15002	0.003000	0.11579	0.050000	0.14768	0.371000	0.20450	0.755000	0.32990	0.643000	0.83706	GAA		TCGA-IB-7651-01A-11D-2154-08	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3	1	0	1	63	570	0	143	1	1	25	206	0	143	2		0	0	0	0	0	2	1	1	63	563	0	141	2								-18.812730	1	1	121412	2	40	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.780000	1.000000	1.000000	0.935010	0.940000	1	8.600000e-01	1
IFNAR1	3454	broad.mit.edu	37	21	34725173	34725173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34725173G>T	ENST00000270139.3	+	9	1405	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1			14				"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	CTGAATAAAAGCAGTGTTTTT	0.328000													Esophageal Squamous(73;817 1211 32990 35667 42746)											0							SO:0001583	missense			ENST00000270139.3	1	1	hg19	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088106	0.36855	.	.	ENSG00000142166	ENST00000416947;ENST00000270139	T;T	0.31769	1.48;1.48	5.38	4.39	0.52855	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.672052	0.15859	N	0.241111	T	0.52549	0.1741	M	0.73598	2.24	0.35803	D	0.823276	D	0.65815	0.995	D	0.68621	0.959	T	0.59144	-0.7509	10	0.35671	T	0.21	-9.2815	11.7482	0.51832	0.0:0.2872:0.7128:0.0	.	418	P17181	INAR1_HUMAN	I	349;418	ENSP00000395606:S349I;ENSP00000270139:S418I	ENSP00000270139:S418I	S	+	2	0	IFNAR1	33647043	0.998000	0.40836	0.909000	0.35828	0.041000	0.13682	1.209000	0.32357	0.982000	0.38575	0.585000	0.79938	AGC		TCGA-IB-7651-01A-11D-2154-08	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4	1	0	1	39	385	0	81	1	9.999999e-01	26	230	0	81	2		0	0	0	0	0	2	1	1	39	376	0	81	2								-12.602620	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.890000	0.680000	1.000000	1.000000	0.888851	0.890000	1	7.900000e-01	9.800000e-01
IFNAR1	3454	broad.mit.edu	37	21	34727821	34727821	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34727821A>C	ENST00000270139.3	+	11	1792	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T	IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T|IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1			14				"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	AGCGAAAGTAAAACAAGTGAA	0.373000													Esophageal Squamous(73;817 1211 32990 35667 42746)											0							SO:0001583	missense			ENST00000270139.3	1	1	hg19	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612357	0.28712	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.48522	0.81;0.94;1.52	5.3	1.68	0.24146	.	2.586540	0.00929	N	0.002695	T	0.55146	0.1902	M	0.73598	2.24	0.09310	N	1	D	0.56521	0.976	P	0.46685	0.524	T	0.32455	-0.9906	10	0.45353	T	0.12	-8.2839	6.7289	0.23373	0.7204:0.0:0.2796:0.0	.	547	P17181	INAR1_HUMAN	T	478;547;486	ENSP00000395606:K478T;ENSP00000270139:K547T;ENSP00000407406:K486T	ENSP00000270139:K547T	K	+	2	0	IFNAR1	33649691	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	1.024000	0.30077	0.047000	0.15862	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4	1	0	1	67	266	0	74	1	1	67	201	0	74	2		0	0	0	0	0	2	1	1	67	261	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.920000	1.000000	1.000000	0.986988	0.990000	1	9.600000e-01	1
DNAJC28	54943	broad.mit.edu	37	21	34861515	34861515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34861515G>T	ENST00000314399.3	-	2	624	c.186C>A	c.(184-186)tgC>tgA	p.C62*	DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28			18					CATCTGCAGAGCATCCTTCCT	0.373000																								0							SO:0001587	stop_gained			ENST00000314399.3	0	1	hg19	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287351	0.80803	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.39	-1.03	0.10102	.	0.140012	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3122	10.0629	0.42286	0.614:0.0:0.386:0.0	.	.	.	.	X	62	.	ENSP00000320303:C62X	C	-	3	2	DNAJC28	33783385	0.960000	0.32886	0.972000	0.41901	0.377000	0.30045	0.143000	0.16115	-0.079000	0.12707	-0.251000	0.11542	TGC		TCGA-IB-7651-01A-11D-2154-08	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3	1	0	0	62	634	0	153	0	6.782115e-02	1	4	0	153	2		0	0	0	0	0	2	1	1	62	622	0	152	2								-16.478490	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.900000	0.720000	1.000000	1.000000	0.899240	0.900000	1	8.100000e-01	9.800000e-01
SON	6651	broad.mit.edu	37	21	34923064	34923064	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34923064G>A	ENST00000356577.4	+	3	2002	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000381679.4_Silent_p.T509T|SON_ENST00000300278.4_Silent_p.T509T|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein			72					AACCTGTGACGACGACAGAGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000356577.4	1	1	hg19	CCDS13629.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	1	0	1	83	720	0	196	1	9.999985e-01	13	149	0	196	2		0	0	0	0	0	2	1	1	82	713	0	194	2								-19.999990	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.960000	0.830000	1.000000	1.000000	0.954316	0.960000	1	9.000000e-01	1
SON	6651	broad.mit.edu	37	21	34927550	34927550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34927550G>A	ENST00000356577.4	+	3	6488	c.6013G>A	c.(6013-6015)Gta>Ata	p.V2005I	SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000381679.4_Missense_Mutation_p.V2005I|SON_ENST00000300278.4_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein			72					AAGGTCTGTGGTAAGAAGACG	0.597000																								0							SO:0001583	missense			ENST00000356577.4	1	1	hg19	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.344|9.344	1.063723|1.063723	0.20067|0.20067	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679;ENST00000421541|ENST00000436227	T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.291703|.	0.24525|.	N|.	0.037772|.	T|.	0.31231|.	0.0790|.	N|N	0.08118|0.08118	0|0	0.33302|0.33302	D|D	0.564994|0.564994	B;B;B;B;B|.	0.24823|.	0.063;0.038;0.037;0.112;0.112|.	B;B;B;B;B|.	0.23852|.	0.033;0.015;0.012;0.049;0.033|.	T|.	0.41484|.	-0.9506|.	10|.	0.56958|.	D|.	0.05|.	.|.	11.5444|11.5444	0.50685|0.50685	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	2005;2005;1686;2005;2005|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	I|X	2005;2005;2005;2005;66|999	ENSP00000348984:V2005I;ENSP00000290239:V2005I;ENSP00000300278:V2005I;ENSP00000371095:V2005I|.	ENSP00000290239:V2005I|.	V|W	+|+	1|3	0|0	SON|SON	33849420|33849420	0.998000|0.998000	0.40836|0.40836	0.986000|0.986000	0.45419|0.45419	0.745000|0.745000	0.42441|0.42441	3.285000|3.285000	0.51716|0.51716	2.628000|2.628000	0.89032|0.89032	0.650000|0.650000	0.86243|0.86243	GTA|TGG		TCGA-IB-7651-01A-11D-2154-08	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	1	0	1	91	304	0	76	1	1	71	178	0	76	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.950000	1.000000	1.000000	0.993292	0.990000	1	9.700000e-01	1
CRYZL1	9946	broad.mit.edu	37	21	34997011	34997011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34997011G>A	ENST00000381554.3	-	3	207	c.122C>T	c.(121-123)gCt>gTt	p.A41V	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000361534.2_Missense_Mutation_p.A65V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1			3					CTGGCTCAGAGCACAAGCTTT	0.308000																								0							SO:0001583	missense			ENST00000381554.3	1	1	hg19	CCDS13633.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982314	0.74474	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000431177;ENST00000413017	T;T;T;T;T;T;T	0.50548	3.45;0.74;3.45;0.74;3.45;3.45;3.45	5.05	5.05	0.67936	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.176366	0.48286	D	0.000196	T	0.72153	0.3425	M	0.90082	3.085	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.66084	0.941;0.941;0.941	T	0.78478	-0.2188	10	0.72032	D	0.01	-21.5229	14.2943	0.66302	0.0:0.0:1.0:0.0	.	41;41;65	O95825;A6NND8;A6NHJ8	QORL1_HUMAN;.;.	V	41;41;41;41;65;41;41;41	ENSP00000370966:A41V;ENSP00000290244:A41V;ENSP00000370951:A41V;ENSP00000399730:A41V;ENSP00000355075:A65V;ENSP00000405510:A41V;ENSP00000389209:A41V	ENSP00000290244:A41V	A	-	2	0	CRYZL1	33918881	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.861000	0.56002	2.503000	0.84419	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	0	0	1	47	242	0	103	1	9.999929e-01	34	60	0	103	2		0	0	0	0	0	2	1	1	47	236	0	103	2								-19.999930	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.870000	1.000000	1.000000	0.972303	0.980000	1	9.300000e-01	1
ITSN1	6453	broad.mit.edu	37	21	35094941	35094941	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35094941T>C	ENST00000381318.3	+	4	458	c.170T>C	c.(169-171)gTt>gCt	p.V57A	ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)			67					CCTCAACCTGTTTTAGCACAG	0.279000																								0							SO:0001583	missense			ENST00000381318.3	1	1	hg19	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594035	0.66219	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000451686;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.9	5.9	0.94986	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.119758	0.56097	D	0.000027	T	0.55970	0.1954	M	0.75264	2.295	0.58432	D	0.999996	P;P;P;P;D;P;P;P;P	0.65815	0.528;0.528;0.528;0.528;0.995;0.528;0.528;0.719;0.528	P;B;B;B;D;B;B;P;B	0.68039	0.491;0.414;0.414;0.414;0.955;0.414;0.414;0.494;0.414	T	0.59984	-0.7351	10	0.87932	D	0	.	15.9811	0.80111	0.0:0.0:0.0:1.0	.	57;57;57;57;57;57;57;57;57	A8D7D0;A7XZY7;A8CTY7;A8CTY3;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	A	57	ENSP00000382290:V57A;ENSP00000400079:V57A;ENSP00000370719:V57A;ENSP00000370691:V57A;ENSP00000370685:V57A;ENSP00000382301:V57A;ENSP00000382289:V57A;ENSP00000382292:V57A;ENSP00000382286:V57A;ENSP00000407132:V57A;ENSP00000370683:V57A;ENSP00000382275:V57A;ENSP00000387377:V57A;ENSP00000382265:V57A;ENSP00000369294:V57A	ENSP00000369294:V57A	V	+	2	0	ITSN1	34016811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.331000	0.72929	2.248000	0.74166	0.459000	0.35465	GTT		TCGA-IB-7651-01A-11D-2154-08	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1	55	152	0	31	1	9.993015e-01	13	21	0	31	2		0	0	0	0	0	2	1	1	55	147	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.920000	1.000000	1.000000	0.986666	0.990000	1	9.600000e-01	1
ITSN1	6453	broad.mit.edu	37	21	35191585	35191585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35191585C>T	ENST00000381318.3	+	24	3262	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000379960.5_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)			67					TAGTCTAAAGCGAGTAGCCTC	0.423000																								0							SO:0001587	stop_gained			ENST00000381318.3	0	1	hg19	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	44	10.875900	0.99482	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	.	.	.	5.56	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4925	0.55907	0.7237:0.2763:0.0:0.0	.	.	.	.	X	950;992;992;992;992;987;987;987;992;987;987;987	.	ENSP00000370685:R992X	R	+	1	2	ITSN1	34113455	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	2.377000	0.44300	0.384000	0.24942	-0.500000	0.04577	CGA		TCGA-IB-7651-01A-11D-2154-08	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	0	20	203	0	50	0	9.444546e-01	1	50	0	50	2		0	0	0	0	0	2	1	9.999954e-01	20	198	0	50	2								-8.615048	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.850000	0.570000	1.000000	1.000000	0.840322	0.850000	1	7.100000e-01	9.600000e-01
ITSN1	6453	broad.mit.edu	37	21	35202044	35202044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35202044C>T	ENST00000381318.3	+	27	3634	c.3346C>T	c.(3346-3348)Ctg>Ttg	p.L1116L	ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000399355.2_Silent_p.L1045L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000399353.1_Silent_p.L1074L|ITSN1_ENST00000399352.1_Silent_p.L1111L|ITSN1_ENST00000381285.4_Silent_p.L1116L|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399349.1_Silent_p.L1040L|ITSN1_ENST00000379960.5_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)			67					GGAAGGAGAGCTGCAAGTCAG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000381318.3	1	1	hg19	CCDS33545.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1	101	408	0	98	1	9.999395e-01	15	44	0	98	2		0	0	0	0	0	2	1	1	97	398	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.993199	0.990000	1	9.700000e-01	1
ITSN1	6453	broad.mit.edu	37	21	35208915	35208915	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35208915G>T	ENST00000381318.3	+	29	3928	c.3640G>T	c.(3640-3642)Gac>Tac	p.D1214Y	ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y|ITSN1_ENST00000379960.5_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	p.D1214H(1)		67					GCTGACCACAGACATGGACCC	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000381318.3	1	1	hg19	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446412	0.63178	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	4.51	4.51	0.55191	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.41824	1.3	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.981;1.0;0.994;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.954;0.986;0.994;0.968;0.927;0.996;0.998	T	0.52653	-0.8547	10	0.87932	D	0	.	17.2445	0.87023	0.0:0.0:1.0:0.0	.	1106;1177;1101;1209;1143;1209;1214;1138;1172	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	Y	1172;1214;1214;1214;1143;1209;1209;1143;1138;1209	ENSP00000382290:D1172Y;ENSP00000370719:D1214Y;ENSP00000370691:D1214Y;ENSP00000370685:D1214Y;ENSP00000382301:D1209Y;ENSP00000382289:D1209Y;ENSP00000382292:D1143Y;ENSP00000382286:D1138Y;ENSP00000387377:D1209Y	ENSP00000370685:D1214Y	D	+	1	0	ITSN1	34130785	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.268000	0.95675	2.059000	0.61396	0.637000	0.83480	GAC		TCGA-IB-7651-01A-11D-2154-08	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	0	25	339	0	87	0	9.558239e-01	1	71	0	87	2		0	0	0	0	0	2	1	9.999998e-01	24	336	0	87	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.720000	0.480000	0.960000	0.720000	0.732341	0.720000	0	5.900000e-01	8.600000e-01
ITSN1	6453	broad.mit.edu	37	21	35237530	35237530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35237530G>T	ENST00000381318.3	+	32	4254	c.3966G>T	c.(3964-3966)caG>caT	p.Q1322H	ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)			67					TGAGCGCACAGCTGCCGCACA	0.602000																								0							SO:0001583	missense			ENST00000381318.3	1	1	hg19	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.784119|3.784119	0.70222|0.70222	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.27557	.|1.66;1.66;1.66;1.66	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39682|0.39682	0.1087|0.1087	N|N	0.10874|0.10874	0.06|0.06	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.98;0.98	T|T	0.41980|0.41980	-0.9478|-0.9478	5|10	.|0.40728	.|T	.|0.16	.|.	20.0079|20.0079	0.97439|0.97439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1317;1317;1322	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	S|H	58|1322;1322;1251;1317;1317	.|ENSP00000370719:Q1322H;ENSP00000370685:Q1322H;ENSP00000382301:Q1317H;ENSP00000387377:Q1317H	.|ENSP00000370685:Q1322H	A|Q	+|+	1|3	0|2	ITSN1|ITSN1	34159400|34159400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	5.200000|5.200000	0.65158|0.65158	2.726000|2.726000	0.93360|0.93360	0.561000|0.561000	0.74099|0.74099	GCT|CAG		TCGA-IB-7651-01A-11D-2154-08	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1	20	117	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999970e-01	20	116	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.720000	1.000000	1.000000	0.924146	0.940000	1	8.400000e-01	1
ITSN1	6453	broad.mit.edu	37	21	35247768	35247768	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35247768G>T	ENST00000381318.3	+	34	4572	c.4284G>T	c.(4282-4284)gaG>gaT	p.E1428D	ITSN1_ENST00000437442.2_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)			67					GGGAGAAGGAGAACTCTGACC	0.637000																								0							SO:0001583	missense			ENST00000381318.3	1	1	hg19	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985555	0.74589	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000415023	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.59	3.79	0.43588	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.61387	1.9	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.44990	0.466;0.466	T	0.28170	-1.0052	10	0.46703	T	0.11	.	9.1763	0.37114	0.2853:0.0:0.7147:0.0	.	1423;1428	A8CTX8;Q15811	.;ITSN1_HUMAN	D	1428;1428;1357;1423;35	ENSP00000370719:E1428D;ENSP00000370685:E1428D;ENSP00000382301:E1423D;ENSP00000409800:E35D	ENSP00000370685:E1428D	E	+	3	2	ITSN1	34169638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.788000	0.26872	0.717000	0.32145	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	1	0	1	94	386	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	93	377	0	113	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.992141	0.990000	1	9.700000e-01	1
ITSN1	6453	broad.mit.edu	37	21	35254750	35254750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35254750G>A	ENST00000381318.3	+	35	4833	c.4545G>A	c.(4543-4545)atG>atA	p.M1515I	ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)			67					AGTATAAAATGTATAAAACAG	0.433000																								0							SO:0001583	missense			ENST00000381318.3	1	1	hg19	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.033321|4.033321	0.75504|0.75504	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442|ENST00000381284	T;T;T;T|.	0.61859|.	0.07;0.07;0.07;0.07|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73552|0.73552	0.3601|0.3601	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61080|.	0.989;0.943;0.943|.	D;D;D|.	0.75020|.	0.985;0.968;0.968|.	T|T	0.69343|0.69343	-0.5170|-0.5170	9|5	.|.	.|.	.|.	.|.	20.0545|20.0545	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1454;1510;1515|.	A8CTY3;A8CTX8;Q15811|.	.;.;ITSN1_HUMAN|.	I|I	1515;1515;1444;1510;1454|195	ENSP00000370719:M1515I;ENSP00000370685:M1515I;ENSP00000382301:M1510I;ENSP00000387377:M1454I|.	.|.	M|V	+|+	3|1	0|0	ITSN1|ITSN1	34176620|34176620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.433000|7.433000	0.80362|0.80362	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	ATG|GTA		TCGA-IB-7651-01A-11D-2154-08	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	0	0	1	41	159	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	41	155	0	44	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.870000	1.000000	1.000000	0.975002	0.980000	1	9.400000e-01	1
SLC5A3	6526	broad.mit.edu	37	21	35467703	35467703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35467703C>T	ENST00000381151.3	+	2	718	c.206C>T	c.(205-207)gCa>gTa	p.A69V	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A69V			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3			20					ATTGGGCTGGCAGGATCTGGA	0.498000																								0							SO:0001583	missense			ENST00000381151.3	1	1	hg19	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004086	0.74932	0.0	1.16E-4	ENSG00000198743	ENST00000381151	D	0.90788	-2.73	5.92	5.92	0.95590	.	0.053770	0.64402	D	0.000001	D	0.96537	0.8870	M	0.91561	3.22	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96820	0.9603	10	0.87932	D	0	.	18.8931	0.92413	0.0:1.0:0.0:0.0	.	69	P53794	SC5A3_HUMAN	V	69	ENSP00000370543:A69V	ENSP00000370543:A69V	A	+	2	0	SLC5A3	34389573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.810000	0.86072	2.805000	0.96524	0.609000	0.83330	GCA		TCGA-IB-7651-01A-11D-2154-08	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	1	0	0	25	446	0	71	1	5.241548e-01	6	26	0	71	2		0	0	0	0	0	2	1	9.999998e-01	24	440	0	71	2								-5.507358	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.560000	0.370000	0.790000	0.560000	0.579940	0.560000	0	4.600000e-01	6.800000e-01
SLC5A3	6526	broad.mit.edu	37	21	35469406	35469406	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35469406G>T	ENST00000381151.3	+	2	2421	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A637S			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3			20					TGGGCAAGCAGCTCTCATGGG	0.478000																								0							SO:0001583	missense			ENST00000381151.3	1	1	hg19	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163213	0.38217	.	.	ENSG00000198743	ENST00000381151	D	0.85861	-2.04	6.06	5.18	0.71444	.	0.480265	0.18467	N	0.140345	T	0.76133	0.3945	N	0.22421	0.69	0.30363	N	0.783593	B	0.12013	0.005	B	0.14023	0.01	T	0.66991	-0.5783	10	0.18710	T	0.47	.	14.7718	0.69684	0.0693:0.0:0.9307:0.0	.	637	P53794	SC5A3_HUMAN	S	637	ENSP00000370543:A637S	ENSP00000370543:A637S	A	+	1	0	SLC5A3	34391276	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	5.336000	0.65935	1.582000	0.49881	0.643000	0.83706	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1	1	0	1	38	391	0	110	1	9.850486e-01	11	59	0	110	2		0	0	0	0	0	2	1	1	36	382	0	110	2								-12.105160	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.880000	0.660000	1.000000	1.000000	0.874225	0.880000	1	7.700000e-01	9.700000e-01
KCNE2	9992	broad.mit.edu	37	21	35742840	35742840	+	Silent	SNP	T	T	G	rs138954752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35742840T>G	ENST00000290310.3	+	2	203	c.63T>G	c.(61-63)acT>acG	p.T21T	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2			2					TTTTTATTACTTATATGGACA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000290310.3	1	1	hg19	CCDS13635.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2	1	0	0	51	416	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	50	409	0	95	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.790000	1.000000	1.000000	0.943301	0.950000	1	8.800000e-01	1
KCNE1	3753	broad.mit.edu	37	21	35821672	35821672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35821672C>T	ENST00000337385.3	-	3	636	c.261G>A	c.(259-261)tgG>tgA	p.W87*	KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*|KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1			7				Indapamide(DB00808)	CCTTCTCTTGCCAGGCATCGG	0.552000																								0							SO:0001587	stop_gained			ENST00000337385.3	0	1	hg19	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735347	0.89482	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2752	18.2469	0.89989	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000337255:W87X	W	-	3	0	KCNE1	34743542	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.189000	0.72051	2.398000	0.81561	0.591000	0.81541	TGG		TCGA-IB-7651-01A-11D-2154-08	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1	1	0	1	92	323	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	91	312	0	81	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.993108	0.990000	1	9.700000e-01	1
RCAN1	1827	broad.mit.edu	37	21	35890400	35890400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35890400C>T	ENST00000313806.4	-	4	871	c.741G>A	c.(739-741)acG>acA	p.T247T	RCAN1_ENST00000381132.2_Silent_p.T192T|RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000481448.1_Silent_p.T237T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000482533.1_Silent_p.T112T|RCAN1_ENST00000381135.3_Silent_p.T237T|RCAN1_ENST00000399272.1_Silent_p.T166T	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1			5					GGTGGATCGGCGTGTACTCCG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000313806.4	1	1	hg19	CCDS13637.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1	1	0	0	40	686	0	153	1	9.988305e-01	4	169	0	153	2		0	0	0	0	0	2	1	1	41	676	0	149	2								-6.376032	1	1	121412	2	35	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.580000	0.420000	0.770000	0.590000	0.598726	0.580000	0	5.000000e-01	6.900000e-01
CLIC6	54102	broad.mit.edu	37	21	36088748	36088748	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:36088748G>A	ENST00000360731.3	+	7	2083	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6			19					GATTGAACACGCATATTCAGA	0.378000																								0							SO:0001583	missense			ENST00000360731.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.8	4.339592	0.81911	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	5.85	5.85	0.93711	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.96494	0.9366	10	0.59425	D	0.04	-12.539	20.1542	0.98100	0.0:0.0:1.0:0.0	.	695;677	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	T	695;677	ENSP00000353959:A695T;ENSP00000290332:A677T	ENSP00000290332:A677T	A	+	1	0	CLIC6	35010618	1.000000	0.71417	0.270000	0.24601	0.967000	0.64934	9.835000	0.99442	2.767000	0.95098	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1	1	0	1	87	230	0	65	0	9.999376e-01	0	41	0	65	2		0	0	0	0	0	2	1	1	87	224	0	65	2								-6.526523	1	1	121410	2	35	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.950000	1.000000	1.000000	0.993937	0.990000	1	9.800000e-01	1
SETD4	54093	broad.mit.edu	37	21	37410520	37410520	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37410520C>T	ENST00000399215.1	-	9	2488	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Silent_p.E348E|SETD4_ENST00000332131.4_Silent_p.E372E|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4			15					AACTTGTCTTCTCATTCGTAT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000399215.1	1	1	hg19	CCDS13640.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	0	0	1	58	511	1	151	0	2.770417e-01	1	9	1	151	2		0	0	0	0	0	2	1	1	58	492	1	151	14								-18.380990	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.780000	1.000000	1.000000	0.936631	0.940000	1	8.700000e-01	1
SETD4	54093	broad.mit.edu	37	21	37416128	37416128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37416128C>A	ENST00000399215.1	-	6	2225	c.853G>T	c.(853-855)Gga>Tga	p.G285*	SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*			Q9NVD3	SETD4_HUMAN	SET domain containing 4			15					GAAACAAATCCGTATTCCAGG	0.378000																								0							SO:0001587	stop_gained			ENST00000399215.1	0	1	hg19	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	48	13.959075	0.99772	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.3083	19.7767	0.96398	0.0:1.0:0.0:0.0	.	.	.	.	X	285;261;285;261;285;261;285	.	ENSP00000329189:G285X	G	-	1	0	SETD4	36337998	1.000000	0.71417	0.821000	0.32701	0.067000	0.16453	6.948000	0.75965	2.751000	0.94390	0.555000	0.69702	GGA		TCGA-IB-7651-01A-11D-2154-08	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	1	0	1	17	213	0	56	1	7.934570e-01	10	29	0	56	2		0	0	0	0	0	2	1	9.999648e-01	17	208	0	56	2								-2.415757	0	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.750000	0.470000	0.990000	0.760000	0.756747	0.750000	0	6.000000e-01	9.000000e-01
SETD4	54093	broad.mit.edu	37	21	37420647	37420647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37420647C>T	ENST00000399215.1	-	4	1627	c.255G>A	c.(253-255)acG>acA	p.T85T	SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399205.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399207.1_Silent_p.T85T			Q9NVD3	SETD4_HUMAN	SET domain containing 4			15					TCACTGTGTCCGTGGTGAGCA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000399215.1	1	1	hg19	CCDS13640.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	0	0	1	124	1090	0	303	1	9.458558e-01	3	41	0	303	2		0	0	0	0	0	2	1	1	124	1075	0	301	2								-2.559126	1	1	121412	3	41	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.860000	1.000000	1.000000	0.965722	0.970000	1	9.200000e-01	1
DOPEY2	9980	broad.mit.edu	37	21	37537005	37537005	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37537005G>T	ENST00000399151.3	+	2	59		c.e2-1			NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2			58					TTTGCTTTTAGATACTTTTCT	0.393000																								0							SO:0001630	splice_region_variant			ENST00000399151.3	1	1	hg19	CCDS13643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	1	27	194	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	27	190	0	36	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.930000	0.730000	1.000000	1.000000	0.924980	0.930000	1	8.400000e-01	1
DOPEY2	9980	broad.mit.edu	37	21	37617678	37617678	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617678G>A	ENST00000399151.3	+	19	3485	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2			58					CCCTTCCCACGACCTGCAGGA	0.662000																								0							SO:0001583	missense			ENST00000399151.3	1	1	hg19	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432271	0.43122	.	.	ENSG00000142197	ENST00000399151	T	0.28666	1.6	5.55	2.74	0.32292	.	0.476618	0.26227	N	0.025593	T	0.25938	0.0632	L	0.50333	1.59	0.35569	D	0.805348	B;B	0.20550	0.046;0.027	B;B	0.11329	0.006;0.003	T	0.16867	-1.0388	10	0.59425	D	0.04	.	8.2768	0.31877	0.1344:0.0:0.7372:0.1284	.	1134;1134	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	1134	ENSP00000382104:D1134N	ENSP00000382104:D1134N	D	+	1	0	DOPEY2	36539548	0.998000	0.40836	0.432000	0.26747	0.858000	0.48976	2.887000	0.48586	0.385000	0.24970	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	1	88	310	0	78	1	9.999168e-01	5	46	0	78	2		0	0	0	0	0	2	1	1	85	299	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.992525	0.990000	1	9.700000e-01	1
DOPEY2	9980	broad.mit.edu	37	21	37617780	37617780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617780G>A	ENST00000399151.3	+	19	3587	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2			58					CTTCCAGTCAGAAAGCTTCAA	0.637000																								0							SO:0001583	missense			ENST00000399151.3	1	1	hg19	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	6.407	0.443183	0.12164	.	.	ENSG00000142197	ENST00000399151	T	0.32988	1.43	4.61	3.65	0.41850	.	0.412728	0.20393	N	0.093212	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	1	B;B	0.32753	0.383;0.265	B;B	0.26770	0.073;0.033	T	0.11916	-1.0568	10	0.10111	T	0.7	.	9.0698	0.36486	0.0813:0.1495:0.7692:0.0	.	1168;1168	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1168	ENSP00000382104:E1168K	ENSP00000382104:E1168K	E	+	1	0	DOPEY2	36539650	0.790000	0.28787	0.010000	0.14722	0.014000	0.08584	2.759000	0.47573	2.575000	0.86900	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	1	59	236	0	64	1	9.695532e-01	4	21	0	64	2		0	0	0	0	0	2	1	1	57	231	0	62	2								-3.640429	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.910000	1.000000	1.000000	0.984225	0.990000	1	9.500000e-01	1
DOPEY2	9980	broad.mit.edu	37	21	37617836	37617836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617836G>A	ENST00000399151.3	+	19	3643	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2			58					CGGACAAGACGCAGGCTTCTG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000399151.3	1	1	hg19	CCDS13643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	1	52	213	0	59	1	9.856585e-01	7	23	0	59	2		0	0	0	0	0	2	1	1	51	213	0	59	2								-20.000000	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.900000	1.000000	1.000000	0.980798	0.980000	1	9.500000e-01	1
DOPEY2	9980	broad.mit.edu	37	21	37620829	37620829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37620829C>T	ENST00000399151.3	+	21	5046	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2			58					CTAGGGGCCACGAAGGGATCC	0.448000																								0							SO:0001583	missense			ENST00000399151.3	1	1	hg19	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.089986	0.07053	.	.	ENSG00000142197	ENST00000399151	T	0.12774	2.65	5.46	3.66	0.41972	.	0.301120	0.41294	N	0.000907	T	0.14184	0.0343	L	0.57536	1.79	0.09310	N	0.999994	B;B	0.22851	0.076;0.046	B;B	0.20577	0.03;0.013	T	0.16453	-1.0402	10	0.49607	T	0.09	-11.577	8.6367	0.33953	0.0:0.769:0.0:0.231	.	1654;1654	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	M	1654	ENSP00000382104:T1654M	ENSP00000382104:T1654M	T	+	2	0	DOPEY2	36542699	0.856000	0.29760	0.029000	0.17559	0.033000	0.12548	1.698000	0.37794	0.697000	0.31718	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	1	0	1	62	224	0	68	1	9.995031e-01	13	31	0	68	2		0	0	0	0	0	2	1	1	60	221	0	67	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.920000	1.000000	1.000000	0.986582	0.990000	1	9.600000e-01	1
MORC3	23515	broad.mit.edu	37	21	37717329	37717329	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37717329G>T	ENST00000400485.1	+	8	1081	c.1005G>T	c.(1003-1005)agG>agT	p.R335S	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3			35					GTCAGTTAAGGGTAAGCTTTA	0.284000																								0							SO:0001630	splice_region_variant			ENST00000400485.1	1	0	hg19	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010232	0.75046	.	.	ENSG00000159256	ENST00000400485	T	0.13657	2.57	5.51	5.51	0.81932	.	0.299915	0.40640	N	0.001045	T	0.09291	0.0229	N	0.04508	-0.205	0.80722	D	1	B	0.23185	0.081	B	0.21546	0.035	T	0.29427	-1.0012	10	0.62326	D	0.03	-11.3544	19.4173	0.94706	0.0:0.0:1.0:0.0	.	335	Q14149	MORC3_HUMAN	S	335	ENSP00000383333:R335S	ENSP00000383333:R335S	R	+	3	2	MORC3	36639199	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.798000	0.85924	2.588000	0.87417	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	1	0	0	8	175	0	40	1	8.034120e-01	4	64	0	40	2		0	0	0	0	0	2	1	9.886348e-01	8	170	0	40	2								-3.123498	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.470000	0.220000	0.810000	0.450000	0.494528	0.470000	0	3.300000e-01	6.400000e-01
MORC3	23515	broad.mit.edu	37	21	37741529	37741529	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37741529G>A	ENST00000400485.1	+	15	1939	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3			35					CTTGTGGCCAGACTGGTTCAA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000400485.1	1	1	hg19	CCDS42924.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	1	0	1	106	399	0	112	1	9.999985e-01	20	54	0	112	2		0	0	0	0	0	2	1	1	104	392	0	112	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.950000	1.000000	1.000000	0.994264	0.990000	1	9.800000e-01	1
CHAF1B	8208	broad.mit.edu	37	21	37763902	37763902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37763902G>A	ENST00000314103.5	+	4	464	c.313G>A	c.(313-315)Gct>Act	p.A105T	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)			20					GGAGCAGATCGCTTTTCAGGA	0.517000																								0							SO:0001583	missense			ENST00000314103.5	1	1	hg19	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932325	0.18131	.	.	ENSG00000159259	ENST00000314103	T	0.56275	0.47	5.18	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.481323	0.24363	N	0.039173	T	0.33585	0.0868	N	0.17764	0.52	0.22500	N	0.999043	B	0.10296	0.003	B	0.06405	0.002	T	0.14811	-1.0459	10	0.17832	T	0.49	-5.9072	9.6314	0.39782	0.0758:0.1408:0.7834:0.0	.	105	Q13112	CAF1B_HUMAN	T	105	ENSP00000315700:A105T	ENSP00000315700:A105T	A	+	1	0	CHAF1B	36685772	0.014000	0.17966	0.135000	0.22099	0.581000	0.36288	1.069000	0.30641	1.311000	0.45024	-0.126000	0.14955	GCT		TCGA-IB-7651-01A-11D-2154-08	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	1	0	1	22	164	0	47	1	5.549292e-01	5	10	0	47	2		0	0	0	0	0	2	1	9.999985e-01	21	155	0	46	2								-10.942460	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.920000	0.690000	1.000000	1.000000	0.907427	0.920000	1	8.100000e-01	9.900000e-01
CHAF1B	8208	broad.mit.edu	37	21	37769717	37769717	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37769717A>G	ENST00000314103.5	+	6	637	c.486A>G	c.(484-486)caA>caG	p.Q162Q	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)			20					TTGTAGGACAAAAGATATCAA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000314103.5	1	1	hg19	CCDS13644.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	1	0	0	10	151	0	44	1	4.113767e-01	8	13	0	44	2		0	0	0	0	0	2	1	9.960823e-01	10	141	0	44	2								-14.258640	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.640000	0.340000	0.960000	0.630000	0.657209	0.640000	0	4.700000e-01	8.300000e-01
CHAF1B	8208	broad.mit.edu	37	21	37781761	37781761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37781761C>T	ENST00000314103.5	+	10	1068	c.917C>T	c.(916-918)aCa>aTa	p.T306I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)			20					GTGGTGGAAACAGGTATCCTC	0.512000																								0							SO:0001583	missense			ENST00000314103.5	1	1	hg19	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962404	0.34659	.	.	ENSG00000159259	ENST00000314103	T	0.55052	0.54	4.13	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.771278	0.12913	N	0.428808	T	0.47563	0.1452	L	0.58101	1.795	0.80722	D	1	B	0.25955	0.138	B	0.18263	0.021	T	0.48864	-0.8997	10	0.48119	T	0.1	-1.1091	10.2473	0.43350	0.3458:0.6542:0.0:0.0	.	306	Q13112	CAF1B_HUMAN	I	306	ENSP00000315700:T306I	ENSP00000315700:T306I	T	+	2	0	CHAF1B	36703631	0.954000	0.32549	0.960000	0.40013	0.910000	0.53928	2.047000	0.41269	2.283000	0.76528	0.563000	0.77884	ACA		TCGA-IB-7651-01A-11D-2154-08	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	1	0	0	225	768	0	196	1	8.843895e-01	4	11	0	196	2		0	0	0	0	0	2	1	1	219	756	0	196	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.980000	1.000000	1.000000	0.999084	0.990000	1	9.900000e-01	1
HLCS	3141	broad.mit.edu	37	21	38132072	38132072	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38132072A>G	ENST00000399120.1	-	10	2981	c.1751T>C	c.(1750-1752)cTg>cCg	p.L584P	HLCS_ENST00000336648.4_Missense_Mutation_p.L584P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)			24		Myeloproliferative disorder(46;0.0422)		Biotin(DB00121)	TGAGTTAACCAGAACTCCGCC	0.348000																								0							SO:0001583	missense			ENST00000399120.1	1	1	hg19	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548100	0.86022	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.99282	-5.68;-5.68	5.31	5.31	0.75309	Biotin/lipoate A/B protein ligase (1);	0.000000	0.64402	D	0.000007	D	0.99697	0.9885	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97127	0.9815	10	0.87932	D	0	.	15.2626	0.73637	1.0:0.0:0.0:0.0	.	584	P50747	BPL1_HUMAN	P	584	ENSP00000382071:L584P;ENSP00000338387:L584P	ENSP00000338387:L584P	L	-	2	0	HLCS	37053942	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.550000	0.90675	2.002000	0.58637	0.482000	0.46254	CTG		TCGA-IB-7651-01A-11D-2154-08	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2	1	0	1	49	462	0	112	1	9.344403e-01	7	38	0	112	2		0	0	0	0	0	2	1	1	48	453	0	112	2								-15.526620	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.920000	0.730000	1.000000	1.000000	0.913436	0.920000	1	8.300000e-01	9.900000e-01
HLCS	3141	broad.mit.edu	37	21	38139572	38139572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38139572G>A	ENST00000399120.1	-	8	2696	c.1466C>T	c.(1465-1467)aCa>aTa	p.T489I	HLCS_ENST00000336648.4_Missense_Mutation_p.T489I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)			24		Myeloproliferative disorder(46;0.0422)		Biotin(DB00121)	TTCCTGCGGTGTCTGAAACAT	0.542000																								0							SO:0001583	missense			ENST00000399120.1	1	1	hg19	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263207	0.23051	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94280	-3.39;-3.39	6.11	-0.369	0.12534	Biotin/lipoate A/B protein ligase (1);	0.671223	0.16243	N	0.223068	T	0.82070	0.4957	N	0.16130	0.375	0.20403	N	0.999901	B	0.02656	0.0	B	0.01281	0.0	T	0.67229	-0.5723	10	0.16420	T	0.52	.	5.6186	0.17446	0.552:0.0:0.3278:0.1203	.	489	P50747	BPL1_HUMAN	I	489	ENSP00000382071:T489I;ENSP00000338387:T489I	ENSP00000338387:T489I	T	-	2	0	HLCS	37061442	0.976000	0.34144	0.988000	0.46212	0.810000	0.45777	1.139000	0.31504	-0.028000	0.13850	-0.290000	0.09829	ACA		TCGA-IB-7651-01A-11D-2154-08	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2	1	0	1	51	350	0	85	1	9.703501e-01	7	34	0	85	2		0	0	0	0	0	2	1	1	50	339	0	84	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.830000	1.000000	1.000000	0.961057	0.970000	1	9.100000e-01	1
HLCS	3141	broad.mit.edu	37	21	38309528	38309528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38309528G>T	ENST00000399120.1	-	5	1447	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	HLCS_ENST00000336648.4_Missense_Mutation_p.P73T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)			24		Myeloproliferative disorder(46;0.0422)		Biotin(DB00121)	CTTTGTTTGGGTTCTTCACCA	0.552000																								0							SO:0001583	missense			ENST00000399120.1	1	1	hg19	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783937	0.16189	.	.	ENSG00000159267	ENST00000399120;ENST00000336648;ENST00000448340;ENST00000419461;ENST00000427746	D;D	0.97976	-4.64;-4.64	5.0	-9.6	0.00553	.	0.833571	0.10862	N	0.625967	D	0.92580	0.7643	L	0.53249	1.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81037	-0.1114	10	0.34782	T	0.22	.	1.0272	0.01530	0.436:0.1744:0.1271:0.2625	.	73;73	B2RAH1;P50747	.;BPL1_HUMAN	T	73	ENSP00000382071:P73T;ENSP00000338387:P73T	ENSP00000338387:P73T	P	-	1	0	HLCS	37231398	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.400000	0.07241	-1.709000	0.01399	-0.137000	0.14449	CCC		TCGA-IB-7651-01A-11D-2154-08	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2	1	0	1	34	327	0	94	1	9.707517e-01	10	47	0	94	2		0	0	0	0	0	2	1	1	33	320	0	94	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.890000	0.670000	1.000000	1.000000	0.888581	0.890000	1	7.900000e-01	9.800000e-01
TTC3	7267	broad.mit.edu	37	21	38519880	38519880	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38519880T>C	ENST00000399017.2	+	22	4740	c.1993T>C	c.(1993-1995)Tac>Cac	p.Y665H	TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3			75		Myeloproliferative disorder(46;0.0412)			GATCCAGATATACATAACTGA	0.368000													Ovarian(38;194 1649 35661)											0							SO:0001583	missense			ENST00000399017.2	1	1	hg19	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118059	0.77323	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.66099	1.63;-0.08;1.69;1.82;-0.19;1.82;1.82	4.88	4.88	0.63580	.	0.357825	0.24126	N	0.041314	T	0.70245	0.3202	L	0.32530	0.975	0.39491	D	0.968041	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.75121	-0.3429	10	0.87932	D	0	-14.1615	14.4552	0.67411	0.0:0.0:0.0:1.0	.	355;665	B4DSZ9;P53804	.;TTC3_HUMAN	H	665;665;647;665;355;665;665	ENSP00000403943:Y665H;ENSP00000408456:Y665H;ENSP00000391891:Y647H;ENSP00000347889:Y665H;ENSP00000442875:Y355H;ENSP00000381981:Y665H;ENSP00000346791:Y665H	ENSP00000346791:Y665H	Y	+	1	0	TTC3	37441750	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	6.518000	0.73764	1.951000	0.56629	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	1	0	1	84	343	0	84	1	1	25	115	0	84	2		0	0	0	0	0	2	1	1	82	337	0	84	2								-20.000000	1	1	121410	1	32	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.930000	1.000000	1.000000	0.990583	0.990000	1	9.700000e-01	1
TTC3	7267	broad.mit.edu	37	21	38537998	38537998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38537998G>A	ENST00000399017.2	+	33	6229	c.3482G>A	c.(3481-3483)cGt>cAt	p.R1161H	TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H|TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3			75		Myeloproliferative disorder(46;0.0412)			GGATGCCCTCGTTTTGTTGTG	0.363000													Ovarian(38;194 1649 35661)											0							SO:0001583	missense			ENST00000399017.2	1	1	hg19	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472211	0.63737	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.14766	2.48;2.48;2.79;2.79;2.79	4.75	4.75	0.60458	.	0.097011	0.45867	D	0.000333	T	0.36026	0.0952	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.926	T	0.13282	-1.0515	10	0.87932	D	0	-11.0241	16.2538	0.82501	0.0:0.0:1.0:0.0	.	219;1161	Q5GIT6;P53804	.;TTC3_HUMAN	H	1161;1143;1161;1161;1161	ENSP00000403943:R1161H;ENSP00000391891:R1143H;ENSP00000347889:R1161H;ENSP00000381981:R1161H;ENSP00000346791:R1161H	ENSP00000346791:R1161H	R	+	2	0	TTC3	37459868	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.674000	0.46867	2.352000	0.79861	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	1	0	1	101	964	0	248	1	9.999935e-01	17	139	0	248	2		0	0	0	0	0	2	1	1	100	954	0	248	2								-20.000000	1	1	121412	2	34	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.810000	1.000000	1.000000	0.940981	0.940000	1	8.800000e-01	1
TTC3	7267	broad.mit.edu	37	21	38538444	38538444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38538444C>A	ENST00000399017.2	+	33	6675	c.3928C>A	c.(3928-3930)Caa>Aaa	p.Q1310K	TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3			75		Myeloproliferative disorder(46;0.0412)			TTATTGGGCTCAATCCCATTT	0.453000													Ovarian(38;194 1649 35661)											0							SO:0001583	missense			ENST00000399017.2	1	1	hg19	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495499	0.44352	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.08282	3.11;3.11;3.11	5.09	4.14	0.48551	.	0.151389	0.30940	N	0.008577	T	0.08891	0.0220	L	0.51422	1.61	0.80722	D	1	P;B	0.37207	0.587;0.243	B;B	0.36464	0.225;0.033	T	0.12760	-1.0535	9	.	.	.	-10.37	10.4636	0.44594	0.0:0.7454:0.2546:0.0	.	368;1310	Q5GIT6;P53804	.;TTC3_HUMAN	K	1310	ENSP00000347889:Q1310K;ENSP00000381981:Q1310K;ENSP00000346791:Q1310K	.	Q	+	1	0	TTC3	37460314	0.157000	0.22836	0.943000	0.38184	0.590000	0.36582	1.965000	0.40471	2.533000	0.85409	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	1	0	1	64	585	0	160	1	9.999894e-01	10	140	0	160	2		0	0	0	0	0	2	1	1	63	550	0	160	2								-18.679950	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.780000	1.000000	1.000000	0.933476	0.940000	1	8.600000e-01	9.900000e-01
DYRK1A	1859	broad.mit.edu	37	21	38884724	38884724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38884724C>T	ENST00000398960.2	+	11	2257	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	DYRK1A_ENST00000339659.4_Missense_Mutation_p.P719S|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A			42					TAATACAGGTCCTGCACATTA	0.483000													Melanoma(114;464 1602 31203 43785 45765)											0							SO:0001583	missense			ENST00000398960.2	1	1	hg19	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883449	0.33255	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58210	0.36;0.35;0.91	5.53	4.64	0.57946	.	0.099278	0.64402	N	0.000001	T	0.32164	0.0820	N	0.14661	0.345	0.53005	D	0.999964	B;B	0.32350	0.366;0.002	B;B	0.27500	0.08;0.005	T	0.10382	-1.0632	10	0.12103	T	0.63	.	14.5041	0.67741	0.0:0.9292:0.0:0.0708	.	728;719	Q13627;Q13627-2	DYR1A_HUMAN;.	S	719;728;500	ENSP00000340373:P719S;ENSP00000381932:P728S;ENSP00000407854:P500S	ENSP00000340373:P719S	P	+	1	0	DYRK1A	37806594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	1.338000	0.45544	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	1	0	1	32	285	0	92	1	9.997528e-01	17	98	0	92	2		0	0	0	0	0	2	1	1	32	281	0	92	2								-12.320730	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.910000	0.690000	1.000000	1.000000	0.903052	0.910000	1	8.100000e-01	9.900000e-01
KCNJ6	3763	broad.mit.edu	37	21	38997550	38997550	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38997550G>A	ENST00000609713.1	-	4	1772	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	KCNJ6_ENST00000288309.6_Silent_p.L395L	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6			22				Halothane(DB01159)	TCAGTCTCCAGTTCTGCATGT	0.502000													Pancreas(48;379 1118 2936 19024 28214)											0							SO:0001819	synonymous_variant			ENST00000609713.1	1	1	hg19	CCDS42927.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	1	0	1	155	589	0	149	0	0	0	1	0	149	2		0	0	0	0	0	2	1	1	153	580	0	146	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.970000	1.000000	1.000000	0.997312	0.990000	1	9.800000e-01	1
KCNJ15	3772	broad.mit.edu	37	21	39671643	39671643	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39671643A>T	ENST00000328656.4	+	4	763	c.460A>T	c.(460-462)Acc>Tcc	p.T154S	KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S|KCNJ15_ENST00000398930.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15			24				Yohimbine(DB01392)	GGTCATCACGACCTTGATTGA	0.512000																								0							SO:0001583	missense			ENST00000328656.4	1	1	hg19	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534235	0.45073	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927	D;D;D;D;D;D;D;D	0.95885	-3.84;-3.26;-3.84;-3.84;-3.84;-3.84;-3.84;-3.26	5.83	5.83	0.93111	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.113444	0.64402	D	0.000014	D	0.92967	0.7762	N	0.16266	0.395	0.44188	D	0.997006	P	0.46621	0.881	P	0.50192	0.634	D	0.92329	0.5872	9	.	.	.	.	16.2127	0.82178	1.0:0.0:0.0:0.0	.	154	Q99712	IRK15_HUMAN	S	154	ENSP00000331698:T154S;ENSP00000381902:T154S;ENSP00000381911:T154S;ENSP00000381905:T154S;ENSP00000414487:T154S;ENSP00000381904:T154S;ENSP00000381907:T154S;ENSP00000381901:T154S	.	T	+	1	0	KCNJ15	38593513	0.989000	0.36119	0.897000	0.35233	0.453000	0.32348	4.842000	0.62831	2.236000	0.73375	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	1	0	1	81	271	0	55	0	9.999544e-01	0	51	0	55	2		0	0	0	0	0	2	1	1	80	268	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.991776	0.990000	1	9.700000e-01	1
ETS2	2114	broad.mit.edu	37	21	40184962	40184962	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40184962G>A	ENST00000360214.3	+	4	568	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ETS2_ENST00000360938.3_Silent_p.L36L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2			18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)			ATGGGTCCCTGTTTGCTGTTT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000360214.3	1	1	hg19	CCDS13659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1	1	0	1	111	404	0	106	1	1	63	140	0	106	2		0	0	0	0	0	2	1	1	108	398	0	105	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.950000	1.000000	1.000000	0.994935	0.990000	1	9.800000e-01	1
ETS2	2114	broad.mit.edu	37	21	40186851	40186851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40186851G>A	ENST00000360214.3	+	6	911	c.451G>A	c.(451-453)Gca>Aca	p.A151T	ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2			18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)			TCTGGAGCTGGCACCTGACTT	0.512000																								0							SO:0001583	missense			ENST00000360214.3	1	1	hg19	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369851	0.82573	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.08	5.08	0.68730	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.162599	0.56097	D	0.000033	T	0.50531	0.1621	L	0.48935	1.535	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.955	T	0.49818	-0.8899	10	0.59425	D	0.04	.	18.8647	0.92287	0.0:0.0:1.0:0.0	.	151;151	P15036;C9JAG2	ETS2_HUMAN;.	T	151	ENSP00000353344:A151T;ENSP00000354194:A151T;ENSP00000401273:A151T;ENSP00000411086:A151T	ENSP00000353344:A151T	A	+	1	0	ETS2	39108721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.843000	0.86859	2.507000	0.84556	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1	1	0	1	87	701	0	175	1	1	47	318	0	175	2		0	0	0	0	0	2	1	1	86	689	0	174	2								-20.000000	1	1	121412	1	34	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.860000	1.000000	1.000000	0.966084	0.970000	1	9.200000e-01	1
ETS2	2114	broad.mit.edu	37	21	40191548	40191548	+	Silent	SNP	C	C	T	rs113417859	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191548C>T	ENST00000360214.3	+	9	1393	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ETS2_ENST00000360938.3_Silent_p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2			18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)			TTCCTTCCTTCGAGAGCTTCG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000360214.3	1	1	hg19	CCDS13659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1	1	0	1	14	144	0	40	1	1	49	448	0	40	2		0	0	0	0	0	2	1	9.997590e-01	14	140	0	40	2								-19.522260	1	0	121398	8	39	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.820000	0.510000	1.000000	1.000000	0.811221	0.820000	0	6.600000e-01	9.500000e-01
ETS2	2114	broad.mit.edu	37	21	40191600	40191600	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191600A>G	ENST00000360214.3	+	9	1445	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2			18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)			TAAGCCAACCATGTCTTTCAA	0.537000																								0							SO:0001583	missense			ENST00000360214.3	1	1	hg19	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295585	0.23564	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.12039	2.72;2.72	5.9	5.9	0.94986	.	0.293939	0.42821	D	0.000653	T	0.12732	0.0309	L	0.38838	1.175	0.41499	D	0.988279	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.16420	T	0.52	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	329	P15036	ETS2_HUMAN	V	329	ENSP00000353344:M329V;ENSP00000354194:M329V	ENSP00000353344:M329V	M	+	1	0	ETS2	39113470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.507000	0.60434	2.251000	0.74343	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1	1	0	1	14	111	0	32	1	1	57	272	0	32	2		0	0	0	0	0	2	1	9.997778e-01	14	108	0	30	2								-19.995520	1	0	121412	3	32	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.880000	0.590000	1.000000	1.000000	0.864539	0.880000	1	7.400000e-01	9.800000e-01
BRWD1	54014	broad.mit.edu	37	21	40559106	40559106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40559106C>T	ENST00000333229.2	-	42	7136	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1			58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)			AGAAGCATTTCGATGGGGCAG	0.338000													Melanoma(170;988 1986 4794 16843 39731)											0							SO:0001583	missense			ENST00000333229.2	1	1	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903770	0.92035	.	.	ENSG00000185658	ENST00000333229	T	0.60299	0.2	5.64	5.64	0.86602	.	0.159818	0.29314	N	0.012508	T	0.70228	0.3200	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	P	0.55011	0.766	T	0.72357	-0.4318	10	0.66056	D	0.02	-0.8337	18.2571	0.90023	0.0:1.0:0.0:0.0	.	2270	Q9NSI6	BRWD1_HUMAN	Q	2270	ENSP00000330753:R2270Q	ENSP00000330753:R2270Q	R	-	2	0	BRWD1	39480976	0.635000	0.27199	1.000000	0.80357	0.998000	0.95712	3.262000	0.51538	2.820000	0.97059	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	1	0	1	60	270	0	63	1	9.813234e-01	11	20	0	63	2		0	0	0	0	0	2	1	1	59	268	0	63	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.900000	1.000000	1.000000	0.982644	0.980000	1	9.500000e-01	1
BRWD1	54014	broad.mit.edu	37	21	40604155	40604155	+	Missense_Mutation	SNP	T	T	G	rs145677980	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40604155T>G	ENST00000333229.2	-	25	3275	c.2948A>C	c.(2947-2949)aAt>aCt	p.N983T	BRWD1_ENST00000342449.3_Missense_Mutation_p.N983T|BRWD1_ENST00000380800.3_Missense_Mutation_p.N983T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1			58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)			TTCATAAATATTATTTCTTCT	0.303000													Melanoma(170;988 1986 4794 16843 39731)											0							SO:0001583	missense			ENST00000333229.2	1	1	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181532	0.78677	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56275	0.47;0.5;0.58	5.55	5.55	0.83447	.	0.127274	0.53938	D	0.000057	T	0.56934	0.2019	L	0.50333	1.59	0.80722	D	1	B;D	0.57899	0.337;0.981	B;P	0.49637	0.173;0.617	T	0.58912	-0.7552	10	0.48119	T	0.1	-4.9369	15.6973	0.77509	0.0:0.0:0.0:1.0	.	983;983	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	T	983	ENSP00000330753:N983T;ENSP00000344333:N983T;ENSP00000370178:N983T	ENSP00000330753:N983T	N	-	2	0	BRWD1	39526025	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	4.680000	0.61656	2.110000	0.64415	0.482000	0.46254	AAT		TCGA-IB-7651-01A-11D-2154-08	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	1	0	1	37	139	0	35	1	9.913054e-01	10	21	0	35	2		0	0	0	0	0	2	1	1	36	138	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.860000	1.000000	1.000000	0.972258	0.980000	1	9.300000e-01	1
BRWD1	54014	broad.mit.edu	37	21	40646333	40646333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40646333C>T	ENST00000333229.2	-	13	1538	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	BRWD1_ENST00000342449.3_Missense_Mutation_p.S404N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S404N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1			58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)			CAATAAAATGCTCCTCCATTC	0.413000													Melanoma(170;988 1986 4794 16843 39731)											0							SO:0001583	missense			ENST00000333229.2	0	1	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076531	0.55753	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.18338	2.22;2.22;2.22	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.59436	1.845	0.80722	D	1	B;B;B	0.32753	0.006;0.383;0.128	B;B;B	0.36186	0.006;0.219;0.045	T	0.01371	-1.1372	10	0.48119	T	0.1	-7.0897	14.6863	0.69052	0.0:0.9286:0.0:0.0714	.	115;404;404	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	N	404	ENSP00000330753:S404N;ENSP00000344333:S404N;ENSP00000370178:S404N	ENSP00000330753:S404N	S	-	2	0	BRWD1	39568203	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.530000	0.60595	2.626000	0.88956	0.484000	0.47621	AGC		TCGA-IB-7651-01A-11D-2154-08	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	0	0	9	413	0	74	0	1.444917e-01	0	28	0	74	2		0	0	0	0	0	2	1	9.940770e-01	9	409	0	73	2								-8.317179	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.230000	0.110000	0.410000	0.220000	0.248312	0.230000	0	1.600000e-01	3.200000e-01
IGSF5	150084	broad.mit.edu	37	21	41137582	41137582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41137582G>A	ENST00000380588.4	+	3	324	c.221G>A	c.(220-222)aGt>aAt	p.S74N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5			23		Prostate(19;5.35e-06)			TGGGCTCTCAGTGACATGGTG	0.587000																								0							SO:0001583	missense			ENST00000380588.4	1	1	hg19	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.499102	0.00157	.	.	ENSG00000183067	ENST00000380588	T	0.23348	1.91	3.71	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.810362	0.11545	N	0.553365	T	0.04588	0.0125	N	0.00142	-2.005	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	10	0.02654	T	1	-2.3909	7.3042	0.26438	0.8149:0.0:0.1851:0.0	.	74	Q9NSI5	IGSF5_HUMAN	N	74	ENSP00000369962:S74N	ENSP00000369962:S74N	S	+	2	0	IGSF5	40059452	0.005000	0.15991	0.071000	0.20095	0.006000	0.05464	1.999000	0.40806	0.131000	0.18576	-0.381000	0.06696	AGT		TCGA-IB-7651-01A-11D-2154-08	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1	0	0	0	10	231	0	69	0	2.226270e-03	0	2	0	69	2		0	0	0	0	0	2	1	9.967941e-01	9	228	0	69	2								-12.348270	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.440000	0.230000	0.740000	0.430000	0.467851	0.440000	0	3.200000e-01	6.000000e-01
DSCAM	1826	broad.mit.edu	37	21	41384987	41384987	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41384987A>G	ENST00000400454.1	-	33	6490	c.6013T>C	c.(6013-6015)Tac>Cac	p.Y2005H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			GATTTTGCGTAAGGATTGTTT	0.463000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001583	missense			ENST00000400454.1	1	1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	17.07	3.295528	0.60086	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.71222	-0.41;-0.55	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.63843	1.955	0.45097	D	0.998111	D	0.71674	0.998	D	0.78314	0.991	D	0.84193	0.0446	10	0.87932	D	0	.	15.4267	0.75059	1.0:0.0:0.0:0.0	.	2005	O60469	DSCAM_HUMAN	H	2005;1739	ENSP00000383303:Y2005H;ENSP00000385342:Y1739H	ENSP00000383303:Y2005H	Y	-	1	0	DSCAM	40306857	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	8.686000	0.91250	2.041000	0.60428	0.455000	0.32223	TAC		TCGA-IB-7651-01A-11D-2154-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	0	11	198	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	9.983834e-01	11	196	0	44	2								-14.107460	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.560000	0.300000	0.880000	0.540000	0.579303	0.560000	0	4.100000e-01	7.300000e-01
DSCAM	1826	broad.mit.edu	37	21	41385243	41385243	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41385243G>A	ENST00000400454.1	-	33	6234	c.5757C>T	c.(5755-5757)agC>agT	p.S1919S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			TCAGGTCCCTGCTGGTGCCTG	0.542000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001819	synonymous_variant			ENST00000400454.1	1	1	hg19	CCDS42929.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	0	15	275	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.998700e-01	13	273	0	70	2								-17.102220	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.550000	0.320000	0.840000	0.540000	0.569299	0.550000	0	4.200000e-01	7.000000e-01
DSCAM	1826	broad.mit.edu	37	21	41452251	41452251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41452251G>T	ENST00000400454.1	-	25	4725	c.4248C>A	c.(4246-4248)taC>taA	p.Y1416*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			TGTCCTCGGAGTACTGCAGTA	0.453000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001587	stop_gained			ENST00000400454.1	0	1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	38	6.695044	0.97768	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.28	0.893	0.19236	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5629	0.45156	0.3606:0.0:0.6394:0.0	.	.	.	.	X	1416;1168	.	ENSP00000383303:Y1416X	Y	-	3	2	DSCAM	40374121	1.000000	0.71417	0.956000	0.39512	0.106000	0.19336	0.816000	0.27267	-0.147000	0.11254	-0.244000	0.11960	TAC		TCGA-IB-7651-01A-11D-2154-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	0	0	0	9	209	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	9.937553e-01	9	203	0	42	2								-10.999320	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.440000	0.220000	0.750000	0.420000	0.467495	0.440000	0	3.200000e-01	6.000000e-01
DSCAM	1826	broad.mit.edu	37	21	41457658	41457658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41457658G>A	ENST00000400454.1	-	23	4480	c.4003C>T	c.(4003-4005)Cgg>Tgg	p.R1335W		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			ATGCTCCTCCGCCCATCAATC	0.458000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001583	missense			ENST00000400454.1	1	1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159064	0.94686	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.80286	-0.1446	10	0.62326	D	0.03	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1335	O60469	DSCAM_HUMAN	W	1335;1087	ENSP00000383303:R1335W;ENSP00000385342:R1087W	ENSP00000383303:R1335W	R	-	1	2	DSCAM	40379528	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.550000	0.60733	2.581000	0.87130	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1	36	295	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	36	287	0	75	2								-13.308160	1	1	120836	1	35	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.930000	0.740000	1.000000	1.000000	0.924810	0.930000	1	8.400000e-01	9.900000e-01
DSCAM	1826	broad.mit.edu	37	21	41710129	41710129	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41710129A>C	ENST00000400454.1	-	8	2159	c.1682T>G	c.(1681-1683)cTt>cGt	p.L561R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			CACATCTGAAAGTTTAAGAGT	0.473000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001583	missense			ENST00000400454.1	1	1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796638	0.70567	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69806	-0.43;-0.43	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88903	0.3354	10	0.87932	D	0	.	16.0742	0.80958	1.0:0.0:0.0:0.0	.	561	O60469	DSCAM_HUMAN	R	561;313	ENSP00000383303:L561R;ENSP00000385342:L313R	ENSP00000383303:L561R	L	-	2	0	DSCAM	40631999	1.000000	0.71417	0.999000	0.59377	0.631000	0.37964	9.133000	0.94460	2.198000	0.70561	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1	88	394	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	88	385	0	105	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.930000	1.000000	1.000000	0.990237	0.990000	1	9.700000e-01	1
DSCAM	1826	broad.mit.edu	37	21	41711061	41711061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41711061G>A	ENST00000400454.1	-	7	1969	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			ACGTTTATTCGAGCCTGGTAC	0.527000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001587	stop_gained			ENST00000400454.1	0	1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	38	6.699790	0.97772	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	6.08	4.28	0.50868	.	0.076737	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2318	0.54492	0.0643:0.1204:0.8153:0.0	.	.	.	.	X	498;250	.	ENSP00000383303:R498X	R	-	1	2	DSCAM	40632931	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.751000	0.98889	0.903000	0.36546	-0.165000	0.13383	CGA		TCGA-IB-7651-01A-11D-2154-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1	79	246	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	79	243	0	62	2								-4.904578	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.991907	0.990000	1	9.700000e-01	1
DSCAM	1826	broad.mit.edu	37	21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			AAAAGTCTGGCGCTGTTGCTC	0.428000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001583	missense			ENST00000400454.1	1	1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626471	0.96671	.	.	ENSG00000171587	ENST00000400454	T	0.12255	2.7	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.74546	2.27	0.53688	D	0.999971	D	0.89917	1.0	D	0.69654	0.965	T	0.02417	-1.1162	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	213	O60469	DSCAM_HUMAN	T	213	ENSP00000383303:A213T	ENSP00000383303:A213T	A	-	1	0	DSCAM	40662914	1.000000	0.71417	0.769000	0.31535	0.950000	0.60333	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1	50	232	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	50	227	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.880000	1.000000	1.000000	0.977161	0.980000	1	9.400000e-01	1
BACE2	25825	broad.mit.edu	37	21	42647386	42647386	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42647386C>T	ENST00000330333.6	+	9	1855	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.5_Silent_p.S414S|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2			14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)			AGTCTTTGAGCGAGCCCATTT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000330333.6	0	1	hg19	CCDS13668.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1	0	0	0	6	310	0	62	1	9.999874e-01	90	1668	0	62	2		0	0	0	0	0	2	1	9.639639e-01	6	306	0	62	2								-2.882554	1	1	121412	48	49	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.210000	0.080000	0.410000	0.200000	0.229945	0.210000	0	1.400000e-01	3.100000e-01
MX2	4600	broad.mit.edu	37	21	42748845	42748845	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42748845C>A	ENST00000330714.3	+	2	196	c.12C>A	c.(10-12)gcC>gcA	p.A4A	MX2_ENST00000543692.1_Silent_p.A4A	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2			34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)			TGTCTAAGGCCCACAAGCCTT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000330714.3	1	1	hg19	CCDS13672.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	1	0	1	87	380	0	122	1	1	40	73	0	122	2		0	0	0	0	0	2	1	1	86	373	0	121	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.930000	1.000000	1.000000	0.990364	0.990000	1	9.700000e-01	1
MX1	4599	broad.mit.edu	37	21	42830566	42830566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42830566G>T	ENST00000398600.2	+	19	2895	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	MX1_ENST00000455164.2_Missense_Mutation_p.D624Y|MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000288383.6_Missense_Mutation_p.D601Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1			27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)			GCAGGACAAGGACACCTACAG	0.617000																								0							SO:0001583	missense			ENST00000398600.2	1	1	hg19	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406273	0.83230	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	4.7	4.7	0.59300	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.317331	0.36932	N	0.002327	T	0.69904	0.3163	M	0.77616	2.38	0.52501	D	0.99995	D	0.60160	0.987	D	0.63381	0.914	T	0.74334	-0.3699	10	0.87932	D	0	-15.9133	13.8894	0.63729	0.0:0.0:1.0:0.0	.	624	P20591	MX1_HUMAN	Y	624;624;624;601	ENSP00000381601:D624Y;ENSP00000381599:D624Y;ENSP00000410523:D624Y;ENSP00000288383:D601Y	ENSP00000288383:D601Y	D	+	1	0	MX1	41752436	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	3.882000	0.56160	2.547000	0.85894	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2	1	0	1	129	519	0	126	1	1	652	730	0	126	2		0	0	0	0	0	2	1	1	128	515	0	124	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.960000	1.000000	1.000000	0.995724	0.990000	1	9.800000e-01	1
RIPK4	54101	broad.mit.edu	37	21	43161377	43161377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161377C>T	ENST00000352483.2	-	9	2184	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.R659Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4			34					GCCAGCGCCCCGATGCAGGAG	0.672000																								0							SO:0001583	missense			ENST00000352483.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.525443|2.525443	0.44969|0.44969	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000330470|ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.|T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;-0.16	4.52|4.52	3.63|3.63	0.41609|0.41609	.|.	.|0.225320	.|0.30311	.|N	.|0.009918	T|T	0.50582|0.50582	0.1624|0.1624	L|L	0.28458|0.28458	0.855|0.855	0.36028|0.36028	D|D	0.839186|0.839186	.|D	.|0.56287	.|0.975	.|P	.|0.47891	.|0.56	T|T	0.53753|0.53753	-0.8394|-0.8394	6|10	0.87932|0.21540	D|T	0|0.41	-13.8925|-13.8925	8.2319|8.2319	0.31603|0.31603	0.0:0.7918:0.0:0.2082|0.0:0.7918:0.0:0.2082	.|.	.|659	.|P57078-2	.|.	R|Q	395|659;707;596;596	.|ENSP00000332454:R659Q;ENSP00000330161:R707Q;ENSP00000441754:R596Q;ENSP00000442901:R596Q	ENSP00000330975:G395R|ENSP00000332454:R659Q	G|R	-|-	1|2	0|0	RIPK4|RIPK4	42034446|42034446	0.778000|0.778000	0.28640|0.28640	0.842000|0.842000	0.33263|0.33263	0.561000|0.561000	0.35649|0.35649	1.287000|1.287000	0.33284|0.33284	0.882000|0.882000	0.36016|0.36016	0.561000|0.561000	0.74099|0.74099	GGG|CGG		TCGA-IB-7651-01A-11D-2154-08	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	51	383	0	74	1	9.490809e-01	12	27	0	74	2		0	0	0	0	0	2	1	1	50	379	0	74	2								-2.716735	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.960000	0.810000	1.000000	1.000000	0.953229	0.960000	1	9.000000e-01	1
RIPK4	54101	broad.mit.edu	37	21	43161678	43161678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161678G>A	ENST00000352483.2	-	9	1883	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	p.R559*(1)|p.R607*(1)		34					TCCACGCCTCGGCGCAGCAGG	0.662000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000352483.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	37	6.258731	0.97421	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	.	.	.	4.99	2.93	0.34026	.	0.088033	0.44688	D	0.000429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5631	6.8025	0.23758	0.0:0.1277:0.4676:0.4047	.	.	.	.	X	559;607;496;496;298	.	ENSP00000330975:R298X	R	-	1	2	RIPK4	42034747	1.000000	0.71417	0.187000	0.23214	0.881000	0.50899	5.506000	0.66993	1.055000	0.40461	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	73	216	0	53	1	9.999964e-01	34	24	0	53	2		0	0	0	0	0	2	1	1	71	216	0	53	2								-5.023670	1	1	121380	2	27	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.991098	0.990000	1	9.700000e-01	1
RIPK4	54101	broad.mit.edu	37	21	43161895	43161895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161895G>A	ENST00000352483.2	-	9	1666	c.1602C>T	c.(1600-1602)gtC>gtT	p.V534V	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.V423V|RIPK4_ENST00000332512.3_Silent_p.V486V|RIPK4_ENST00000542057.1_Silent_p.V423V			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4			34					GGAGCTCCACGACACCCCGCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000352483.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	108	401	0	85	1	9.999998e-01	39	45	0	85	2		0	0	0	0	0	2	1	1	107	393	0	84	2								-20.000000	1	0	121412	4	41	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.950000	1.000000	1.000000	0.994545	0.990000	1	9.800000e-01	1
RIPK4	54101	broad.mit.edu	37	21	43161903	43161903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161903G>A	ENST00000352483.2	-	9	1658	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W|RIPK4_ENST00000332512.3_Missense_Mutation_p.R484W|RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4			34					ACGACACCCCGCACCCTCCTC	0.632000																								0							SO:0001583	missense			ENST00000352483.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.61	1.690655	0.29962	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.84	3.86	0.44501	.	0.205027	0.32640	N	0.005837	T	0.21841	0.0526	L	0.28014	0.82	0.23070	N	0.998349	D	0.71674	0.998	P	0.59546	0.859	T	0.02161	-1.1203	10	0.62326	D	0.03	-32.3207	9.6918	0.40134	0.0:0.0:0.5728:0.4272	.	484	P57078-2	.	W	484;532;421;421;223	ENSP00000332454:R484W;ENSP00000330161:R532W;ENSP00000441754:R421W;ENSP00000442901:R421W	ENSP00000330975:R223W	R	-	1	2	RIPK4	42034972	0.999000	0.42202	0.043000	0.18650	0.004000	0.04260	4.307000	0.59123	2.209000	0.71365	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	41	482	0	89	1	9.907427e-01	29	58	0	89	2		0	0	0	0	0	2	1	1	41	473	0	88	2								-10.346810	1	0	121412	2	31	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.820000	0.600000	0.990000	0.830000	0.820943	0.820000	0	7.100000e-01	9.300000e-01
RIPK4	54101	broad.mit.edu	37	21	43171324	43171324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43171324C>T	ENST00000352483.2	-	3	620	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A186T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4			34					GGGAGGTAGGCGATTGTGCCA	0.577000																								0							SO:0001583	missense			ENST00000352483.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.7	4.443555	0.83993	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.59	4.59	0.56863	.	0.000000	0.56097	D	0.000028	T	0.68384	0.2995	N	0.21508	0.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73839	-0.3856	10	0.72032	D	0.01	-31.4363	16.3904	0.83533	0.0:1.0:0.0:0.0	.	186	P57078-2	.	T	186;186;123;123	ENSP00000332454:A186T;ENSP00000330161:A186T;ENSP00000441754:A123T;ENSP00000442901:A123T	ENSP00000332454:A186T	A	-	1	0	RIPK4	42044393	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	5.766000	0.68843	2.088000	0.63022	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	57	277	0	89	1	9.999805e-01	34	46	0	89	2		0	0	0	0	0	2	1	1	56	273	0	88	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.890000	1.000000	1.000000	0.979696	0.980000	1	9.500000e-01	1
PRDM15	63977	broad.mit.edu	37	21	43236126	43236126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43236126C>T	ENST00000269844.3	-	26	3535	c.3425G>A	c.(3424-3426)tGc>tAc	p.C1142Y	PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.C833Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15			43					GCACTCCTTGCACTCGTACTC	0.642000																								0							SO:0001583	missense			ENST00000269844.3	1	1	hg19	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.636198	0.87760	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95993	0.8695	H	0.99404	4.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.985	D	0.98285	1.0510	9	0.87932	D	0	-24.7482	16.2106	0.82151	0.0:1.0:0.0:0.0	.	1142;833;813	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	833;813;796;776;1142	ENSP00000408592:C833Y;ENSP00000381556:C813Y;ENSP00000444044:C796Y;ENSP00000390245:C776Y;ENSP00000269844:C1142Y	ENSP00000269844:C1142Y	C	-	2	0	PRDM15	42109195	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.413000	0.80104	2.048000	0.60808	0.645000	0.84053	TGC		TCGA-IB-7651-01A-11D-2154-08	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	42	361	0	57	0	1.277766e-01	1	5	0	57	2		0	0	0	0	0	2	1	1	42	358	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.930000	0.750000	1.000000	1.000000	0.925286	0.930000	1	8.500000e-01	9.900000e-01
PRDM15	63977	broad.mit.edu	37	21	43274842	43274842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43274842G>A	ENST00000269844.3	-	12	1579	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	PRDM15_ENST00000398548.1_Missense_Mutation_p.A161V|PRDM15_ENST00000422911.1_Missense_Mutation_p.A161V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15			43					CTCGGCCTCCGCCGCTGGCCG	0.647000																								0							SO:0001583	missense			ENST00000269844.3	0	1	hg19	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155572	0.21454	2.27E-4	0.0	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.74	-1.94	0.07571	SET domain (2);	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.17653	-1.0362	9	0.32370	T	0.25	-16.3261	6.0163	0.19605	0.2206:0.0:0.5366:0.2428	.	490;161;161	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	161;161;124;124;490;124	ENSP00000408592:A161V;ENSP00000381556:A161V;ENSP00000444044:A124V;ENSP00000390245:A124V;ENSP00000269844:A490V	ENSP00000269844:A490V	A	-	2	0	PRDM15	42147911	0.000000	0.05858	0.005000	0.12908	0.600000	0.36913	0.115000	0.15540	-0.382000	0.07870	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	7	318	0	50	0	1.664834e-02	0	8	0	50	2		0	0	0	0	0	2	1	9.795773e-01	7	312	0	49	2								-7.393848	1	1	121400	8	39	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.230000	0.100000	0.440000	0.230000	0.255783	0.230000	0	1.600000e-01	3.400000e-01
C2CD2	25966	broad.mit.edu	37	21	43319445	43319445	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43319445A>G	ENST00000380486.3	-	13	1828	c.1587T>C	c.(1585-1587)gcT>gcC	p.A529A	C2CD2_ENST00000329623.7_Silent_p.A374A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2			15					GCATCAGGGCAGCGTCGTGGT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000380486.3	1	1	hg19	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	A	1.964	-0.438107	0.04636	.	.	ENSG00000157617	ENST00000449165	.	.	.	4.96	-8.02	0.01118	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.39506	D	0.968282	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-14.4391	7.9098	0.29785	0.7422:0.0889:0.0808:0.0881	.	.	.	.	R	15	.	.	C	-	1	0	C2CD2	42192514	0.004000	0.15560	0.012000	0.15200	0.132000	0.20833	-0.528000	0.06193	-1.413000	0.02027	-0.464000	0.05259	TGC		TCGA-IB-7651-01A-11D-2154-08	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	1	0	0	11	180	0	49	1	7.460785e-01	3	42	0	49	2		0	0	0	0	0	2	1	9.982416e-01	11	175	0	49	2								-14.668830	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.600000	0.330000	0.930000	0.590000	0.623814	0.600000	0	4.500000e-01	7.900000e-01
C2CD2	25966	broad.mit.edu	37	21	43329596	43329596	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43329596C>T	ENST00000380486.3	-	8	1231	c.990G>A	c.(988-990)caG>caA	p.Q330Q	C2CD2_ENST00000329623.7_Silent_p.Q175Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2			15					CCTCTGAAATCTGCAGGTGTA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000380486.3	1	1	hg19	CCDS42933.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	1	0	0	28	292	0	61	1	8.076680e-01	2	32	0	61	2		0	0	0	0	0	2	1	1	28	285	0	61	2								-20.000000	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.860000	0.610000	1.000000	1.000000	0.853037	0.860000	1	7.300000e-01	9.600000e-01
UMODL1	89766	broad.mit.edu	37	21	43504288	43504288	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43504288C>T	ENST00000408910.2	+	3	414	c.414C>T	c.(412-414)gaC>gaT	p.D138D	UMODL1_ENST00000400427.1_Silent_p.D66D|UMODL1_ENST00000408989.2_Silent_p.D138D|UMODL1_ENST00000400424.2_Silent_p.D66D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1			47					TGGACATCGACTGTCCTGGAC	0.652000													Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0							SO:0001819	synonymous_variant			ENST00000408910.2	1	1	hg19	CCDS42936.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	0	0	0	29	698	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1	29	689	0	131	2								-4.495409	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.420000	0.290000	0.590000	0.420000	0.437515	0.420000	0	3.500000e-01	5.100000e-01
UMODL1	89766	broad.mit.edu	37	21	43508515	43508515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43508515C>T	ENST00000408910.2	+	5	715	c.715C>T	c.(715-717)Cct>Tct	p.P239S	UMODL1_ENST00000400427.1_Missense_Mutation_p.P167S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S|UMODL1_ENST00000400424.2_Missense_Mutation_p.P167S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1			47					ACGGCCACTGCCTGTGGCTGA	0.632000													Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0							SO:0001583	missense			ENST00000408910.2	1	1	hg19	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	0.590	-0.833284	0.02713	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.71103	-0.54;-0.53;-0.54;-0.53	4.11	2.1	0.27182	.	0.338812	0.20703	N	0.087225	T	0.57489	0.2057	L	0.39633	1.23	0.19300	N	0.999975	P;B;B	0.35401	0.499;0.274;0.366	B;B;B	0.37833	0.102;0.259;0.047	T	0.42649	-0.9439	10	0.23302	T	0.38	-3.771	6.9479	0.24528	0.2053:0.6115:0.1832:0.0	.	167;239;239	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	S	167;167;239;239;85;85	ENSP00000383279:P167S;ENSP00000383276:P167S;ENSP00000386126:P239S;ENSP00000386147:P239S	ENSP00000369829:P85S	P	+	1	0	UMODL1	42381584	0.076000	0.21285	0.052000	0.19188	0.008000	0.06430	0.119000	0.15626	0.356000	0.24157	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	1	0	1	40	142	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	40	137	0	44	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.880000	1.000000	1.000000	0.975796	0.980000	1	9.400000e-01	1
UMODL1	89766	broad.mit.edu	37	21	43547924	43547924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43547924G>A	ENST00000408910.2	+	20	3673	c.3673G>A	c.(3673-3675)Gga>Aga	p.G1225R	UMODL1_ENST00000400427.1_Missense_Mutation_p.G1281R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.2_Missense_Mutation_p.G1153R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1			47					GGAATCCCCCGGAGCCACGTG	0.453000													Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0							SO:0001583	missense			ENST00000408910.2	1	1	hg19	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	7.905	0.735203	0.15574	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	3.56	2.65	0.31530	Zona pellucida sperm-binding protein (3);	0.363130	0.19826	N	0.105183	T	0.74015	0.3661	L	0.34521	1.04	0.09310	N	1	P;P	0.50443	0.56;0.935	B;B	0.44163	0.112;0.443	T	0.64368	-0.6424	9	.	.	.	-3.8301	9.2905	0.37784	0.1065:0.0:0.8935:0.0	.	1353;1225	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1281;1153;1353;1225;110	ENSP00000383279:G1281R;ENSP00000383276:G1153R;ENSP00000386126:G1353R;ENSP00000386147:G1225R	.	G	+	1	0	UMODL1	42420993	0.672000	0.27530	0.002000	0.10522	0.130000	0.20726	2.925000	0.48884	1.048000	0.40298	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	1	0	0	20	330	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	9.999953e-01	20	327	0	73	2								-2.578334	1	1	120866	2	38	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.600000	0.380000	0.870000	0.600000	0.623004	0.600000	0	4.800000e-01	7.500000e-01
ABCG1	9619	broad.mit.edu	37	21	43706095	43706095	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43706095G>T	ENST00000361802.2	+	8	1109	c.964G>T	c.(964-966)Gca>Tca	p.A322S	ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S|ABCG1_ENST00000398437.1_Missense_Mutation_p.A468S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1			29				Adenosine triphosphate(DB00171)	CCACAACCCAGCAGATTTTGG	0.522000																								0							SO:0001583	missense			ENST00000361802.2	1	1	hg19	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409956|4.409956	0.83340|0.83340	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09|.	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58424|0.58424	0.2121|0.2121	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.995;0.994;1.0;0.994;0.997;0.996|.	P;D;D;D;D;D|.	0.75484|.	0.893;0.95;0.983;0.95;0.976;0.986|.	T|T	0.56505|0.56505	-0.7968|-0.7968	9|5	.|.	.|.	.|.	-18.6548|-18.6548	16.5443|16.5443	0.84410|0.84410	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	333;333;322;322;319;324|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	S|I	324;319;322;322;333;468;430|57	ENSP00000381475:A324S;ENSP00000291524:A319S;ENSP00000381467:A322S;ENSP00000354995:A322S;ENSP00000339744:A333S;ENSP00000381464:A468S;ENSP00000343820:A430S|.	.|.	A|S	+|+	1|2	0|0	ABCG1|ABCG1	42579164|42579164	1.000000|1.000000	0.71417|0.71417	0.720000|0.720000	0.30636|0.30636	0.956000|0.956000	0.61745|0.61745	8.930000|8.930000	0.92872|0.92872	1.930000|1.930000	0.55929|0.55929	0.655000|0.655000	0.94253|0.94253	GCA|AGC		TCGA-IB-7651-01A-11D-2154-08	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	1	0	0	154	562	0	128	1	1	25	72	0	128	2		0	0	0	0	0	2	1	1	152	556	0	127	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.970000	1.000000	1.000000	0.997418	0.990000	1	9.800000e-01	1
ABCG1	9619	broad.mit.edu	37	21	43708092	43708092	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43708092A>G	ENST00000361802.2	+	9	1212	c.1067A>G	c.(1066-1068)gAc>gGc	p.D356G	ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G|ABCG1_ENST00000398437.1_Missense_Mutation_p.D502G	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1			29				Adenosine triphosphate(DB00171)	CACAAGAGAGACCTCGGGGGT	0.547000																								0							SO:0001583	missense			ENST00000361802.2	1	1	hg19	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819420	0.50633	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;D;T;D;D	0.86562	0.93;0.93;0.93;-1.97;0.93;-2.14;-2.11	4.64	4.64	0.57946	.	0.570497	0.17962	N	0.156123	T	0.75686	0.3883	N	0.12746	0.255	0.51233	D	0.999913	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.003;0.002;0.001	T	0.69034	-0.5252	9	.	.	.	-25.0065	14.0615	0.64802	1.0:0.0:0.0:0.0	.	367;367;356;356;353;358	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	G	358;353;356;356;367;502;464	ENSP00000381475:D358G;ENSP00000291524:D353G;ENSP00000381467:D356G;ENSP00000354995:D356G;ENSP00000339744:D367G;ENSP00000381464:D502G;ENSP00000343820:D464G	.	D	+	2	0	ABCG1	42581161	0.982000	0.34865	0.557000	0.28306	0.974000	0.67602	5.067000	0.64357	1.729000	0.51567	0.383000	0.25322	GAC		TCGA-IB-7651-01A-11D-2154-08	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	0	0	1	105	948	1	245	1	9.987290e-01	19	107	1	245	4		0	0	0	0	0	2	1	1	104	925	1	242	16								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.960000	0.830000	1.000000	1.000000	0.955517	0.960000	1	9.000000e-01	1
ABCG1	9619	broad.mit.edu	37	21	43716283	43716283	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43716283C>T	ENST00000361802.2	+	15	1963	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000398437.1_Silent_p.F752F	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	p.F596F(2)|p.F606F(2)		29				Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587000																								4	Substitution - coding silent(4)						SO:0001819	synonymous_variant			ENST00000361802.2	1	1	hg19	CCDS13682.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	1	0	0	58	205	0	50	1	1	26	91	0	50	2		0	0	0	0	0	2	1	1	57	202	0	49	2								-3.865706	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.910000	1.000000	1.000000	0.985458	0.990000	1	9.600000e-01	1
TFF1	7031	broad.mit.edu	37	21	43783485	43783485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43783485C>T	ENST00000291527.2	-	2	215	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1			2					AACCACAATTCTGTCTTTCAC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000291527.2	1	1	hg19	CCDS13685.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195361.1	1	0	0	38	157	0	50	1	1	1002	502	0	50	2		0	0	0	0	0	2	1	1	37	151	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.860000	1.000000	1.000000	0.971154	0.970000	1	9.300000e-01	1
TMPRSS3	64699	broad.mit.edu	37	21	43796726	43796726	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43796726C>A	ENST00000291532.3	-	11	2073	c.1118G>T	c.(1117-1119)aGg>aTg	p.R373M	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3			13					GTACACGTCCCTGTGGTTGCA	0.627000																								0							SO:0001583	missense			ENST00000291532.3	1	1	hg19	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720711	0.68959	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.94	3.84	0.44239	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.135322	0.48286	D	0.000181	D	0.88228	0.6380	L	0.39085	1.19	0.28890	N	0.893885	P;P;D	0.55800	0.928;0.916;0.973	P;P;P	0.56960	0.667;0.726;0.81	T	0.82323	-0.0514	9	.	.	.	.	10.8134	0.46559	0.0:0.8328:0.0:0.1672	.	372;373;370	P57727-5;P57727;B7WPR2	.;TMPS3_HUMAN;.	M	373;372;370;457	ENSP00000291532:R373M;ENSP00000411013:R372M;ENSP00000381442:R370M;ENSP00000369762:R457M	.	R	-	2	0	TMPRSS3	42669795	0.972000	0.33761	1.000000	0.80357	0.953000	0.61014	2.005000	0.40864	2.269000	0.75478	0.591000	0.81541	AGG		TCGA-IB-7651-01A-11D-2154-08	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1	1	0	1	226	768	0	204	1	1	165	90	0	204	2		0	0	0	0	0	2	1	1	220	747	0	202	2								-4.344584	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.980000	1.000000	1.000000	0.999101	0.990000	1	9.900000e-01	1
TMPRSS3	64699	broad.mit.edu	37	21	43815520	43815520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43815520C>T	ENST00000291532.3	-	2	962	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3			13					GGATCATTTTCCCCCATGGTG	0.493000																								0							SO:0001583	missense			ENST00000291532.3	1	1	hg19	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403758	0.62288	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.89270	-2.42;-2.43;-2.42;-2.32;-2.49	5.39	4.49	0.54785	.	0.196987	0.34603	N	0.003830	D	0.88607	0.6482	N	0.24115	0.695	0.33055	D	0.533259	D;D;D	0.67145	0.996;0.996;0.993	P;D;D	0.76071	0.895;0.987;0.971	D	0.88057	0.2791	9	.	.	.	.	10.577	0.45233	0.0:0.9064:0.0:0.0936	.	3;3;3	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	K	3;3;3;87;3	ENSP00000291532:E3K;ENSP00000411013:E3K;ENSP00000381442:E3K;ENSP00000369762:E87K;ENSP00000381434:E3K	.	E	-	1	0	TMPRSS3	42688589	0.990000	0.36364	0.993000	0.49108	0.852000	0.48524	2.010000	0.40913	2.691000	0.91804	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1	1	0	1	13	158	0	45	1	9.999984e-01	118	225	0	45	2		0	0	0	0	0	2	1	9.995842e-01	13	157	0	45	2								-3.075851	1	1	121412	1	28	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.750000	0.440000	0.990000	0.780000	0.754255	0.750000	0	5.900000e-01	9.100000e-01
UBASH3A	53347	broad.mit.edu	37	21	43846890	43846890	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43846890A>G	ENST00000319294.6	+	8	1162	c.1131A>G	c.(1129-1131)ccA>ccG	p.P377P	UBASH3A_ENST00000398367.1_Silent_p.P339P|UBASH3A_ENST00000291535.6_Silent_p.P339P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A			28					AATTTCTTCCACAAACGGCAA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000319294.6	1	1	hg19	CCDS13687.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	1	0	1	78	283	0	86	0	6.698503e-01	1	9	0	86	2		0	0	0	0	0	2	1	1	78	281	0	86	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.930000	1.000000	1.000000	0.990585	0.990000	1	9.700000e-01	1
PDE9A	5152	broad.mit.edu	37	21	44119111	44119111	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44119111G>T	ENST00000291539.6	+	4	312	c.252G>T	c.(250-252)aaG>aaT	p.K84N	PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A			27				Caffeine(DB00201)	TGGCCATCAAGCAACTCTCCG	0.468000																								0							SO:0001583	missense			ENST00000291539.6	1	1	hg19	CCDS13690.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.981|9.981	1.228164|1.228164	0.22542|0.22542	.|.	.|.	ENSG00000160191|ENSG00000160191	ENST00000380328;ENST00000335440;ENST00000349112|ENST00000335512;ENST00000291539;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000398225;ENST00000398224	T;T;T|T;T;T;T;T;T;T;T	0.68765|0.69435	-0.28;-0.35;-0.26|-0.37;-0.38;-0.39;-0.38;-0.33;-0.37;-0.4;-0.33	4.19|4.19	2.18|2.18	0.27775|0.27775	.|.	.|4.256290	.|0.01036	.|U	.|0.004236	T|T	0.75042|0.75042	0.3796|0.3796	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|D;B;B;B;D;B;B;B;B	0.32101|0.76494	0.229;0.356;0.356|0.999;0.001;0.001;0.001;0.999;0.001;0.002;0.0;0.002	B;B;B|D;B;B;B;D;B;B;B;B	0.32090|0.78314	0.099;0.14;0.14|0.991;0.002;0.002;0.004;0.991;0.002;0.004;0.001;0.004	T|T	0.69101|0.69101	-0.5234|-0.5234	8|9	0.27082|0.17369	T|T	0.32|0.5	.|.	5.1173|5.1173	0.14840|0.14840	0.2781:0.0:0.7219:0.0|0.2781:0.0:0.7219:0.0	.|.	35;61;110|17;58;43;58;43;36;84;17;84	O76083-4;O76083-12;O76083-5|O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-3;O76083	.;.;.|.;.;.;.;.;.;.;.;PDE9A_HUMAN	S|N	110;61;35|84;84;17;43;58;58;43;17	ENSP00000369685:A110S;ENSP00000335365:A61S;ENSP00000344730:A35S|ENSP00000335242:K84N;ENSP00000291539:K84N;ENSP00000381287:K17N;ENSP00000381289:K43N;ENSP00000381291:K58N;ENSP00000328699:K58N;ENSP00000381281:K43N;ENSP00000381280:K17N	ENSP00000335365:A61S|ENSP00000291539:K84N	A|K	+|+	1|3	0|2	PDE9A|PDE9A	42992180|42992180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.671000|1.671000	0.37513|0.37513	0.984000|0.984000	0.38629|0.38629	0.514000|0.514000	0.50259|0.50259	GCA|AAG		TCGA-IB-7651-01A-11D-2154-08	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1	1	0	0	17	310	0	59	0	4.510600e-01	0	28	0	59	2		0	0	0	0	0	2	1	9.999639e-01	17	305	0	59	2								-18.754130	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.550000	0.330000	0.820000	0.540000	0.571177	0.550000	0	4.300000e-01	6.900000e-01
WDR4	10785	broad.mit.edu	37	21	44272427	44272427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44272427G>A	ENST00000398208.2	-	10	1042	c.983C>T	c.(982-984)cCt>cTt	p.P328L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.P328L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4			11					GGTGCTCTCAGGAACAGACTG	0.567000																								0							SO:0001583	missense			ENST00000398208.2	1	1	hg19	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875627	0.33162	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.60171	0.21;0.21	4.12	3.21	0.36854	.	0.441052	0.24054	N	0.041971	T	0.47432	0.1445	M	0.62723	1.935	0.20403	N	0.999908	B;B	0.33583	0.418;0.07	B;B	0.31101	0.124;0.014	T	0.30416	-0.9979	10	0.11485	T	0.65	-3.186	9.7814	0.40651	0.0:0.2104:0.7896:0.0	.	327;328	P57081-2;P57081	.;WDR4_HUMAN	L	328	ENSP00000328671:P328L;ENSP00000381266:P328L	ENSP00000328671:P328L	P	-	2	0	WDR4	43145496	0.782000	0.28689	0.264000	0.24511	0.026000	0.11368	1.200000	0.32247	1.048000	0.40298	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1	1	0	1	33	99	0	29	1	9.298688e-01	7	9	0	29	2		0	0	0	0	0	2	1	1	33	98	0	26	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.860000	1.000000	1.000000	0.972090	0.980000	1	9.300000e-01	1
PKNOX1	5316	broad.mit.edu	37	21	44433326	44433326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44433326C>T	ENST00000291547.5	+	5	711	c.500C>T	c.(499-501)cCg>cTg	p.P167L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1			22					CCTGGAAGCCCGTACTCACCA	0.473000																								0							SO:0001583	missense			ENST00000291547.5	1	1	hg19	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943085	0.92526	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	T;D	0.86562	1.71;-2.14	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92984	0.7767	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.963;0.998;0.963	D	0.92313	0.5859	10	0.48119	T	0.1	-12.5469	19.5829	0.95475	0.0:1.0:0.0:0.0	.	167;167;167	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	L	167;50	ENSP00000291547:P167L;ENSP00000402243:P50L	ENSP00000291547:P167L	P	+	2	0	PKNOX1	43306395	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	5.690000	0.68241	2.636000	0.89361	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3	0	0	0	33	343	1	78	0	6.479142e-01	4	58	1	78	5		0	0	0	0	0	2	1	9.924597e-01	33	336	1	77	17								-2.196578	0	1	121412	1	36	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.870000	0.640000	1.000000	1.000000	0.863319	0.870000	1	7.500000e-01	9.700000e-01
CBS	875	broad.mit.edu	37	21	44486459	44486459	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44486459G>A	ENST00000398165.3	-	5	604	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000544202.1_Silent_p.G27G|CBS_ENST00000352178.5_Silent_p.G115G|CBS_ENST00000470912.1_5'UTR	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase			17				L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	TCACGCTCCCGCCCGCGTTGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000398165.3	1	1	hg19	CCDS13693.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	1	0	1	50	401	0	88	0	9.631057e-01	0	45	0	88	2		0	0	0	0	0	2	1	1	50	394	0	87	2								-17.524270	1	1	121408	3	35	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.790000	1.000000	1.000000	0.944690	0.950000	1	8.800000e-01	1
CRYAA	1409	broad.mit.edu	37	21	44589368	44589368	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44589368C>T	ENST00000291554.2	+	1	251	c.159C>T	c.(157-159)ttC>ttT	p.F53F	CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398132.1_5'Flank	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A			11					AGTCCCTCTTCCGCACCGTGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000291554.2	1	1	hg19	CCDS13695.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1	1	0	1	73	650	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	1	70	633	0	146	2								-19.983940	1	1	121412	8	44	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.800000	1.000000	1.000000	0.944570	0.950000	1	8.800000e-01	1
SIK1	150094	broad.mit.edu	37	21	44839359	44839359	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44839359C>A	ENST00000270162.6	-	10	1252		c.e10-1			NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1			21				Dabrafenib(DB08912)	CCTGAGGCACCTGGGGCCGGC	0.627000																								0							SO:0001630	splice_region_variant			ENST00000270162.6	1	1	hg19	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236820	0.39498	.	.	ENSG00000142178	ENST00000270162	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.805	0.78491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIK1	43663787	1.000000	0.71417	0.738000	0.30950	0.167000	0.22549	4.725000	0.61979	2.400000	0.81607	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	1	0	1	49	220	0	39	1	3.797140e-01	6	1	0	39	2		0	0	0	0	0	2	1	1	49	218	0	39	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.880000	1.000000	1.000000	0.977342	0.980000	1	9.400000e-01	1
HSF2BP	11077	broad.mit.edu	37	21	45064180	45064180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064180C>T	ENST00000291560.2	-	4	612	c.281G>A	c.(280-282)aGa>aAa	p.R94K	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein			7					CTTCTTCTCTCTTATGTTGTC	0.483000																								0							SO:0001583	missense			ENST00000291560.2	1	1	hg19	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	2.675	-0.276662	0.05679	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	1.14	0.20703	.	0.443449	0.26832	N	0.022271	T	0.24851	0.0603	L	0.28740	0.885	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.23261	-1.0193	9	0.10377	T	0.69	-22.739	9.5457	0.39279	0.0:0.5966:0.0:0.4034	.	94	O75031	HSF2B_HUMAN	K	94;19;94	.	ENSP00000291560:R94K	R	-	2	0	HSF2BP	43888608	0.015000	0.18098	0.019000	0.16419	0.119000	0.20118	0.153000	0.16323	0.298000	0.22638	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	1	0	0	30	314	0	62	1	1.260655e-01	2	5	0	62	2		0	0	0	0	0	2	1	1	28	311	0	62	2								-3.075755	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.860000	0.620000	1.000000	1.000000	0.855712	0.860000	1	7.400000e-01	9.600000e-01
HSF2BP	11077	broad.mit.edu	37	21	45064210	45064210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064210C>T	ENST00000291560.2	-	4	582	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein			7					GGTTTCCAGGCGGGCTTTAAA	0.458000																								0							SO:0001583	missense			ENST00000291560.2	1	1	hg19	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848928	0.91277	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	5.48	0.80851	.	0.057115	0.64402	D	0.000001	T	0.71771	0.3379	M	0.63428	1.95	0.54753	D	0.999988	D	0.63046	0.992	P	0.53861	0.736	T	0.75033	-0.3460	9	0.72032	D	0.01	-10.2094	17.1439	0.86761	0.0:1.0:0.0:0.0	.	84	O75031	HSF2B_HUMAN	H	84;9;84	.	ENSP00000291560:R84H	R	-	2	0	HSF2BP	43888638	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	2.549000	0.45803	2.576000	0.86940	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	1	0	0	31	389	0	77	0	4.959484e-02	1	4	0	77	2		0	0	0	0	0	2	1	1	29	384	0	76	2								-8.273063	1	0	121412	18	42	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.770000	0.540000	0.980000	0.780000	0.778793	0.770000	0	6.500000e-01	9.000000e-01
PDXK	8566	broad.mit.edu	37	21	45173522	45173522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45173522C>T	ENST00000291565.4	+	9	864	c.681C>T	c.(679-681)gaC>gaT	p.D227D	PDXK_ENST00000468090.1_Silent_p.D199D|PDXK_ENST00000467908.1_Silent_p.D187D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase			5				Pyridoxal(DB00147)|Pyridoxine(DB00165)	GCAAAGTGGACGCCGTCTTTG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000291565.4	1	1	hg19	CCDS13699.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	1	0	1	26	186	0	38	1	1	74	497	0	38	2		0	0	0	0	0	2	1	9.999999e-01	25	185	0	38	2								-20.000000	1	1	121408	3	40	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.930000	0.730000	1.000000	1.000000	0.923140	0.930000	1	8.400000e-01	9.900000e-01
PDXK	8566	broad.mit.edu	37	21	45175635	45175635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45175635G>A	ENST00000291565.4	+	10	999	c.816G>A	c.(814-816)caG>caA	p.Q272Q	PDXK_ENST00000468090.1_Silent_p.Q244Q|PDXK_ENST00000467908.1_Silent_p.Q232Q	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase			5				Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGACCATCCAGTGTGCAAAAG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000291565.4	1	1	hg19	CCDS13699.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	1	0	0	48	398	0	99	1	1	99	501	0	99	2		0	0	0	0	0	2	1	1	47	391	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.780000	1.000000	1.000000	0.938017	0.940000	1	8.700000e-01	1
AGPAT3	56894	broad.mit.edu	37	21	45379592	45379592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45379592G>T	ENST00000398063.2	+	2	522	c.30G>T	c.(28-30)caG>caT	p.Q10H	AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3			11					TGAAGACCCAGTTCGTGCTGC	0.642000													Pancreas(60;623 1650 5574 52796)											0							SO:0001583	missense			ENST00000398063.2	1	1	hg19	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215506	0.39102	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000448845;ENST00000422850;ENST00000546158	T;T;T;T;T;T;T;T	0.44881	1.49;1.49;1.49;1.49;1.49;0.91;0.91;1.49	4.43	3.54	0.40534	.	2.255560	0.01928	N	0.040995	T	0.46132	0.1377	L	0.57536	1.79	0.40417	D	0.979809	B	0.20671	0.047	B	0.23419	0.046	T	0.21314	-1.0249	10	0.15066	T	0.55	-7.4377	13.7342	0.62807	0.0:0.0:0.8447:0.1553	.	10	Q9NRZ7	PLCC_HUMAN	H	10	ENSP00000291572:Q10H;ENSP00000381138:Q10H;ENSP00000332989:Q10H;ENSP00000381140:Q10H;ENSP00000381135:Q10H;ENSP00000413906:Q10H;ENSP00000414440:Q10H;ENSP00000443510:Q10H	ENSP00000291572:Q10H	Q	+	3	2	AGPAT3	44204020	1.000000	0.71417	0.972000	0.41901	0.513000	0.34164	3.553000	0.53713	0.843000	0.35070	0.398000	0.26397	CAG		TCGA-IB-7651-01A-11D-2154-08	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	1	0	1	123	413	0	142	1	9.999991e-01	17	52	0	142	2		0	0	0	0	0	2	1	1	124	408	0	141	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.960000	1.000000	1.000000	0.996212	0.990000	1	9.800000e-01	1
AGPAT3	56894	broad.mit.edu	37	21	45402199	45402199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45402199C>T	ENST00000398063.2	+	9	1549	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	p.R353C(1)		11					CTTTGGAGTTCGCAGACTGAT	0.448000													Pancreas(60;623 1650 5574 52796)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000398063.2	1	1	hg19	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978796	0.92982	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.77557	0.99;0.856	D	0.89582	0.3821	10	0.66056	D	0.02	-20.5082	17.7067	0.88310	0.0:1.0:0.0:0.0	.	373;353	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	353	ENSP00000291572:R353C;ENSP00000381138:R353C;ENSP00000332989:R353C;ENSP00000381140:R353C;ENSP00000381135:R353C;ENSP00000443510:R353C	ENSP00000291572:R353C	R	+	1	0	AGPAT3	44226627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.046000	0.64226	2.409000	0.81822	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	0	0	1	108	834	1	262	1	9.999900e-01	21	144	1	262	4		0	0	0	0	0	2	1	1	104	818	1	261	14								-20.000000	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.890000	1.000000	1.000000	0.976602	0.980000	1	9.400000e-01	1
TRAPPC10	7109	broad.mit.edu	37	21	45483547	45483547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45483547C>T	ENST00000291574.4	+	7	1094	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	p.R307C(1)		41					GTTAGATCTGCGCAGTTACCT	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000291574.4	1	1	hg19	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559292	0.86335	.	.	ENSG00000160218	ENST00000291574	T	0.49432	0.78	5.74	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79771	-0.1663	10	0.87932	D	0	.	14.9421	0.71003	0.0:0.9309:0.0:0.0691	.	307	P48553	TPC10_HUMAN	C	307	ENSP00000291574:R307C	ENSP00000291574:R307C	R	+	1	0	TRAPPC10	44307975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	1.422000	0.47177	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	1	0	1	83	369	0	92	1	9.999930e-01	24	54	0	92	2		0	0	0	0	0	2	1	1	83	360	0	92	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.930000	1.000000	1.000000	0.989382	0.990000	1	9.700000e-01	1
TRAPPC10	7109	broad.mit.edu	37	21	45507691	45507691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45507691C>T	ENST00000291574.4	+	17	2826	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10			41					GAAGTTCTCTCTTTACCTTCA	0.577000																								0							SO:0001583	missense			ENST00000291574.4	1	1	hg19	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491547	0.44249	.	.	ENSG00000160218	ENST00000291574	T	0.23552	1.9	4.9	3.95	0.45737	.	0.114895	0.64402	D	0.000015	T	0.13030	0.0316	N	0.14661	0.345	0.39632	D	0.970182	B	0.25955	0.138	B	0.17979	0.02	T	0.08513	-1.0718	10	0.40728	T	0.16	.	7.5482	0.27778	0.2916:0.5759:0.1325:0.0	.	884	P48553	TPC10_HUMAN	F	884	ENSP00000291574:S884F	ENSP00000291574:S884F	S	+	2	0	TRAPPC10	44332119	1.000000	0.71417	0.903000	0.35520	0.980000	0.70556	3.821000	0.55700	2.267000	0.75376	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	1	0	1	74	272	0	75	1	9.999889e-01	14	50	0	75	2		0	0	0	0	0	2	1	1	74	269	0	74	2								-3.532378	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.930000	1.000000	1.000000	0.989626	0.990000	1	9.700000e-01	1
TRAPPC10	7109	broad.mit.edu	37	21	45522699	45522699	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45522699C>A	ENST00000291574.4	+	22	3562	c.3387C>A	c.(3385-3387)agC>agA	p.S1129R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10			41					GTGGGAAAAGCTGCGGTGTCA	0.592000																								0							SO:0001583	missense			ENST00000291574.4	1	1	hg19	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655720	0.67586	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.26660	1.72	5.49	-0.441	0.12257	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.34875	-0.9811	10	0.87932	D	0	.	12.5211	0.56060	0.0:0.6282:0.0:0.3718	.	388;1129	B4DI17;P48553	.;TPC10_HUMAN	R	1129;260	ENSP00000291574:S1129R	ENSP00000291574:S1129R	S	+	3	2	TRAPPC10	44347127	0.437000	0.25593	0.954000	0.39281	0.922000	0.55478	-0.330000	0.07925	-0.043000	0.13513	-0.345000	0.07892	AGC		TCGA-IB-7651-01A-11D-2154-08	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	1	0	1	160	688	0	199	1	1	28	91	0	199	2		0	0	0	0	0	2	1	1	157	680	0	195	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.960000	1.000000	1.000000	0.996972	0.990000	1	9.800000e-01	1
PWP2	5822	broad.mit.edu	37	21	45533719	45533719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45533719G>A	ENST00000291576.7	+	3	344	c.217G>A	c.(217-219)Gtc>Atc	p.V73I		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)			21					CGCTATCATCGTCGATGAAGG	0.587000																								0							SO:0001583	missense			ENST00000291576.7	1	1	hg19	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938033	0.34189	.	.	ENSG00000241945	ENST00000291576;ENST00000456705	T;T	0.42513	0.97;1.49	4.33	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.165612	0.40818	N	0.001018	T	0.26919	0.0659	L	0.31065	0.9	0.36215	D	0.851596	B	0.22003	0.063	B	0.12837	0.008	T	0.20140	-1.0284	10	0.25106	T	0.35	0.0094	9.1753	0.37107	0.1912:0.0:0.8088:0.0	.	73	Q15269	PWP2_HUMAN	I	73	ENSP00000291576:V73I;ENSP00000411749:V73I	ENSP00000291576:V73I	V	+	1	0	PWP2	44358147	0.940000	0.31905	0.996000	0.52242	0.039000	0.13416	1.504000	0.35726	2.148000	0.66965	0.313000	0.20887	GTC		TCGA-IB-7651-01A-11D-2154-08	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	1	0	1	34	165	0	36	1	9.962050e-01	15	30	0	36	2		0	0	0	0	0	2	1	1	34	163	0	35	2								-20.000000	1	1	121394	1	29	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.830000	1.000000	1.000000	0.962258	0.970000	1	9.100000e-01	1
ICOSLG	23308	broad.mit.edu	37	21	45657062	45657062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45657062C>T	ENST00000407780.3	-	3	221	c.94G>A	c.(94-96)Gac>Aac	p.D32N	ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand			5					AGCTCCACGTCGCTGCCTACC	0.498000																								0							SO:0001583	missense			ENST00000407780.3	1	1	hg19	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717906	0.15372	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.62232	0.04;0.04;0.04	4.68	-4.85	0.03142	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.445410	0.04345	N	0.354666	T	0.41971	0.1182	N	0.21373	0.66	0.09310	N	1	B;B	0.34147	0.438;0.438	B;B	0.26310	0.068;0.068	T	0.24584	-1.0156	10	0.12430	T	0.62	.	12.777	0.57455	0.0:0.2087:0.0:0.7913	.	32;32	A0N0L8;O75144	.;ICOSL_HUMAN	N	32	ENSP00000339477:D32N;ENSP00000384432:D32N;ENSP00000383230:D32N	ENSP00000339477:D32N	D	-	1	0	ICOSLG	44481490	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.503000	0.06383	-1.045000	0.03250	-0.150000	0.13652	GAC		TCGA-IB-7651-01A-11D-2154-08	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	1	0	1	41	343	0	76	0	7.631050e-01	0	25	0	76	2		0	0	0	0	0	2	1	1	40	335	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.750000	1.000000	1.000000	0.928615	0.940000	1	8.500000e-01	9.900000e-01
DNMT3L	29947	broad.mit.edu	37	21	45666402	45666402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45666402C>T	ENST00000418993.1	-	12	1522	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	DNMT3L_ENST00000270172.3_Missense_Mutation_p.A348T	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like			11					TTGTTCTGGGCCAGCAGGGAC	0.567000																								0							SO:0001583	missense			ENST00000418993.1	1	1	hg19	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.979|8.979	0.974906|0.974906	0.18736|0.18736	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.30714|.	1.52;1.52|.	4.17|4.17	2.25|2.25	0.28309|0.28309	.|.	0.630018|.	0.15606|.	N|.	0.253672|.	T|.	0.36303|.	0.0962|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.22683|.	0.073;0.073|.	B;B|.	0.15870|.	0.014;0.014|.	T|.	0.22312|.	-1.0220|.	10|.	0.08837|.	T|.	0.75|.	-1.1886|-1.1886	10.0246|10.0246	0.42063|0.42063	0.0:0.8047:0.0:0.1953|0.0:0.8047:0.0:0.1953	.|.	348;347|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	T|X	348;347|141	ENSP00000270172:A348T;ENSP00000412862:A347T|.	ENSP00000270172:A348T|.	A|W	-|-	1|3	0|0	DNMT3L|DNMT3L	44490830|44490830	0.054000|0.054000	0.20591|0.20591	0.007000|0.007000	0.13788|0.13788	0.172000|0.172000	0.22775|0.22775	0.008000|0.008000	0.13197|0.13197	0.018000|0.018000	0.15052|0.15052	-0.797000|-0.797000	0.03246|0.03246	GCC|TGG		TCGA-IB-7651-01A-11D-2154-08	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	1	0	1	46	209	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	44	205	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.880000	1.000000	1.000000	0.975167	0.980000	1	9.400000e-01	1
DNMT3L	29947	broad.mit.edu	37	21	45678505	45678505	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45678505G>T	ENST00000418993.1	-	6	900	c.417C>A	c.(415-417)aaC>aaA	p.N139K	DNMT3L_ENST00000270172.3_Missense_Mutation_p.N139K	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like			11					AGCACACCCAGTTGCTCATGG	0.637000																								0							SO:0001583	missense			ENST00000418993.1	1	1	hg19	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974125	0.34848	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76060	-0.99;-0.99;-0.99	3.61	0.579	0.17397	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.541236	0.19810	N	0.105545	T	0.58524	0.2128	L	0.31207	0.915	0.23271	N	0.998008	P;P	0.49961	0.93;0.93	P;P	0.45856	0.495;0.495	T	0.50792	-0.8786	10	0.34782	T	0.22	-19.8175	3.1666	0.06538	0.2642:0.2316:0.5042:0.0	.	139;139	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	K	139;139;124	ENSP00000270172:N139K;ENSP00000412862:N139K;ENSP00000400242:N124K	ENSP00000270172:N139K	N	-	3	2	DNMT3L	44502933	0.757000	0.28394	0.991000	0.47740	0.982000	0.71751	-0.026000	0.12392	0.286000	0.22352	0.561000	0.74099	AAC		TCGA-IB-7651-01A-11D-2154-08	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	1	0	0	10	126	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	9.970101e-01	10	124	0	27	2								-15.196090	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.720000	0.390000	0.990000	0.760000	0.726188	0.720000	0	5.400000e-01	9.000000e-01
AIRE	326	broad.mit.edu	37	21	45713016	45713016	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713016G>A	ENST00000291582.5	+	10	1363	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	AIRE_ENST00000329347.4_Missense_Mutation_p.R178Q|AIRE_ENST00000355347.4_Silent_p.S205S	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator			14					TGGACTCCTCGGCCCTGCACC	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy															0							SO:0001819	synonymous_variant	Familial Cancer Database	APECED	ENST00000291582.5	1	1	hg19	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511408	0.27036	2.3E-4	0.0	ENSG00000160224	ENST00000329347	D	0.96427	-4.01	5.05	-10.1	0.00402	.	.	.	.	.	D	0.88753	0.6522	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.77702	-0.2489	6	0.28530	T	0.3	-22.3082	1.379	0.02226	0.2509:0.1516:0.1255:0.472	.	.	.	.	Q	178	ENSP00000331055:R178Q	ENSP00000331055:R178Q	R	+	2	0	AIRE	44537444	0.000000	0.05858	0.018000	0.16275	0.150000	0.21749	-4.067000	0.00302	-3.437000	0.00163	0.542000	0.68232	CGG		TCGA-IB-7651-01A-11D-2154-08	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2	0	0	0	9	45	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.947052e-01	9	43	0	15	2								-17.779870	1	1	119944	4	30	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.890000	0.570000	1.000000	1.000000	0.871655	0.890000	1	7.500000e-01	9.800000e-01
AIRE	326	broad.mit.edu	37	21	45713671	45713671	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713671G>T	ENST00000291582.5	+	11	1405		c.e11-1		AIRE_ENST00000329347.4_Splice_Site|AIRE_ENST00000355347.4_Splice_Site	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator			14					GCCTCCCACAGAACCTGGCTC	0.692000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy															0							SO:0001630	splice_region_variant	Familial Cancer Database	APECED	ENST00000291582.5	1	1	hg19	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115223	0.20795	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	.	.	.	3.41	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.45194	D	0.998207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2727	0.26266	0.1343:0.0:0.8657:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIRE	44538099	0.440000	0.25618	0.153000	0.22517	0.004000	0.04260	2.223000	0.42936	0.737000	0.32582	-0.350000	0.07774	.		TCGA-IB-7651-01A-11D-2154-08	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2	1	0	1	29	235	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	29	230	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.920000	0.710000	1.000000	1.000000	0.913818	0.920000	1	8.200000e-01	9.900000e-01
PFKL	5211	broad.mit.edu	37	21	45744399	45744399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45744399C>T	ENST00000349048.4	+	17	1731	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V	PFKL_ENST00000403390.1_Missense_Mutation_p.A606V	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver			23					AAACAGTCTGCCTCGGGGACC	0.672000																								0							SO:0001583	missense			ENST00000349048.4	1	1	hg19	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358152	0.82243	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.84298	-1.83;-1.83	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97112	0.9805	10	0.87932	D	0	-34.7073	15.126	0.72483	0.0:1.0:0.0:0.0	.	559;606	P17858;P17858-2	K6PL_HUMAN;.	V	559;352;606	ENSP00000269848:A559V;ENSP00000384038:A606V	ENSP00000269848:A559V	A	+	2	0	PFKL	44568827	1.000000	0.71417	0.928000	0.36995	0.351000	0.29236	7.399000	0.79935	1.852000	0.53769	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1	1	0	1	29	255	0	62	1	1	120	710	0	62	2		0	0	0	0	0	2	1	1	29	251	0	62	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.910000	0.680000	1.000000	1.000000	0.899585	0.910000	1	8.000000e-01	9.900000e-01
TRPM2	7226	broad.mit.edu	37	21	45789167	45789167	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45789167A>G	ENST00000397928.1	+	5	1157	c.712A>G	c.(712-714)Acc>Gcc	p.T238A	TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2			76					CGAGCTCATCACCATCGGAGT	0.667000																								0							SO:0001583	missense			ENST00000397928.1	1	1	hg19	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	A	4.867	0.161075	0.09287	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	3.51	3.51	0.40186	.	0.146541	0.46758	U	0.000277	T	0.01320	0.0043	N	0.05608	-0.01	0.45806	D	0.998687	P;P	0.40360	0.714;0.512	B;B	0.31946	0.138;0.113	T	0.53760	-0.8393	10	0.02654	T	1	-38.6306	12.4804	0.55839	1.0:0.0:0.0:0.0	.	238;238	E9PGK7;O94759	.;TRPM2_HUMAN	A	238	ENSP00000300482:T238A;ENSP00000381023:T238A;ENSP00000300481:T238A;ENSP00000381026:T238A	ENSP00000300481:T238A	T	+	1	0	TRPM2	44613595	1.000000	0.71417	0.975000	0.42487	0.894000	0.52154	2.993000	0.49425	1.588000	0.49971	0.383000	0.25322	ACC		TCGA-IB-7651-01A-11D-2154-08	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	1	0	1	28	200	0	42	0	4.521513e-01	0	12	0	42	2		0	0	0	0	0	2	1	1	28	196	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.940000	0.740000	1.000000	1.000000	0.927802	0.940000	1	8.500000e-01	1
TRPM2	7226	broad.mit.edu	37	21	45837893	45837893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45837893G>A	ENST00000397928.1	+	21	3675	c.3230G>A	c.(3229-3231)cGc>cAc	p.R1077H	TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2			76					TACCAcggccgccccgccgcg	0.617000																								0							SO:0001583	missense			ENST00000397928.1	1	1	hg19	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595539	0.66219	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.54	4.54	0.55810	.	0.140827	0.48286	D	0.000181	T	0.62270	0.2414	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71547	-0.4560	10	0.87932	D	0	-34.5594	17.6937	0.88276	0.0:0.0:1.0:0.0	.	1077;863;1077	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	1077;1077;1057;1077	ENSP00000300482:R1077H;ENSP00000381023:R1077H;ENSP00000300481:R1057H;ENSP00000381026:R1077H	ENSP00000300481:R1057H	R	+	2	0	TRPM2	44662321	1.000000	0.71417	0.315000	0.25238	0.048000	0.14542	7.492000	0.81482	2.253000	0.74438	0.455000	0.32223	CGC		TCGA-IB-7651-01A-11D-2154-08	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	1	0	1	97	366	0	78	0	9.651418e-01	0	23	0	78	2		0	0	0	0	0	2	1	1	97	359	0	77	2								-3.613449	1	1	121396	13	40	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.993244	0.990000	1	9.700000e-01	1
KRTAP10-4	386672	broad.mit.edu	37	21	45993726	45993726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45993726G>A	ENST00000400374.3	+	1	121	c.91G>A	c.(91-93)Gac>Aac	p.D31N	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4			18					GCAGGTGGACGACTGCCCAGA	0.682000																								0							SO:0001583	missense			ENST00000400374.3	1	1	hg19	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	10.33	1.319150	0.23994	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.14893	2.47	4.69	0.487	0.16842	.	.	.	.	.	T	0.11239	0.0274	L	0.54323	1.7	0.22468	N	0.999077	P	0.42827	0.791	B	0.36666	0.23	T	0.20140	-1.0284	9	0.11182	T	0.66	.	3.5654	0.07897	0.2943:0.0:0.5321:0.1736	.	31	P60372	KR104_HUMAN	N	31;20	ENSP00000383225:D31N	ENSP00000333987:D20N	D	+	1	0	KRTAP10-4	44818154	0.723000	0.28027	0.976000	0.42696	0.133000	0.20885	0.164000	0.16542	0.164000	0.19529	-0.336000	0.08194	GAC		TCGA-IB-7651-01A-11D-2154-08	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	1	0	0	73	283	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	71	244	0	109	2								-3.732308	1	1	120984	1	30	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.930000	1.000000	1.000000	0.988849	0.990000	1	9.600000e-01	1
KRTAP10-8	386681	broad.mit.edu	37	21	46032698	46032698	+	Silent	SNP	C	C	A	rs149614965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46032698C>A	ENST00000334662.2	+	1	703	c.681C>A	c.(679-681)tcC>tcA	p.S227S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8			17					ctgtcccctcctgttgtgtcc	0.711000																								0							SO:0001819	synonymous_variant			ENST00000334662.2	1	1	hg19	CCDS13713.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	1	0	1	54	452	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	51	433	0	99	2								-3.318794	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.790000	1.000000	1.000000	0.942136	0.950000	1	8.800000e-01	1
KRTAP12-2	353323	broad.mit.edu	37	21	46086509	46086509	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46086509A>T	ENST00000360770.3	-	1	335	c.295T>A	c.(295-297)Tcc>Acc	p.S99T	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2			5					GACTGGCAGGAGGGGGCTGCA	0.642000																								0							SO:0001583	missense			ENST00000360770.3	1	1	hg19	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	a	5.296	0.239909	0.10023	.	.	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.03468	3.92	3.47	-0.556	0.11803	.	.	.	.	.	T	0.09291	0.0229	M	0.84082	2.675	0.09310	N	1	P	0.51791	0.948	P	0.51918	0.684	T	0.15464	-1.0436	9	0.51188	T	0.08	.	3.0355	0.06121	0.4538:0.0:0.3497:0.1965	.	99	P59991	KR122_HUMAN	T	99;49	ENSP00000354001:S99T	ENSP00000354001:S99T	S	-	1	0	KRTAP12-2	44910937	0.976000	0.34144	0.010000	0.14722	0.388000	0.30384	0.038000	0.13862	0.009000	0.14813	0.379000	0.24179	TCC		TCGA-IB-7651-01A-11D-2154-08	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	1	0	0	33	305	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	33	294	0	85	2								-1.443732	0	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.900000	0.690000	1.000000	1.000000	0.896773	0.900000	1	8.000000e-01	9.800000e-01
KRTAP10-12	386685	broad.mit.edu	37	21	46117425	46117425	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117425C>A	ENST00000400365.3	+	1	339	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	p.A103A(1)		9					GCCAGCAGGCCTGCTGCGTGC	0.647000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000400365.3	1	1	hg19	CCDS42967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	1	0	0	117	839	0	193		0	0	0	0	193	2		0	0	0	0	0	2	1	1	108	784	0	207	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.910000	1.000000	1.000000	0.983342	0.980000	1	9.500000e-01	1
KRTAP10-12	386685	broad.mit.edu	37	21	46117739	46117739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117739G>A	ENST00000400365.3	+	1	653	c.623G>A	c.(622-624)cGc>cAc	p.R208H	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12			9					CCCGCCCGCCGCGTGCCCGTC	0.711000																								0							SO:0001583	missense			ENST00000400365.3	1	1	hg19	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	g	8.677	0.904269	0.17760	.	.	ENSG00000189169	ENST00000400365	T	0.00630	6.1	2.6	2.6	0.31112	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.22500	N	0.999047	B	0.20550	0.046	B	0.04013	0.001	T	0.48068	-0.9067	9	0.59425	D	0.04	.	5.7084	0.17921	0.1658:0.0:0.8342:0.0	.	208	P60413	KR10C_HUMAN	H	208	ENSP00000383216:R208H	ENSP00000383216:R208H	R	+	2	0	KRTAP10-12	44942167	0.133000	0.22466	0.939000	0.37840	0.006000	0.05464	0.289000	0.18957	1.155000	0.42497	0.298000	0.19748	CGC		TCGA-IB-7651-01A-11D-2154-08	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	1	0	1	90	791	0	173		0	0	0	0	173	2		0	0	0	0	0	2	1	1	87	746	0	165	2								-2.774725	1	1	121290	1	35	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.960000	0.830000	1.000000	1.000000	0.955080	0.960000	1	9.000000e-01	1
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	G	A	rs150327269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000397852.1_Splice_Site_p.F299F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F|ITGB2_ENST00000397854.3_Splice_Site_p.F242F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)			35				Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637000																								0							SO:0001630	splice_region_variant			ENST00000397850.2	1	0	hg19	CCDS13716.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	1	0	0	31	277	0	56	0	1	0	545	0	56	2		0	0	0	0	0	2	1	1	31	270	0	56	2								-11.748840	1	0	121412	2	36	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.910000	0.690000	1.000000	1.000000	0.900452	0.910000	1	8.000000e-01	9.900000e-01
ADARB1	104	broad.mit.edu	37	21	46600335	46600335	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46600335C>A	ENST00000360697.3	+	3	1069	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M|ADARB1_ENST00000539173.1_Missense_Mutation_p.L352M|ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000437626.1_3'UTR			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1			17					CAGAAAAGTGCTGGCTGGAGT	0.493000																								0							SO:0001583	missense			ENST00000360697.3	1	1	hg19	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028386	0.75390	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.49432	0.79;0.78;0.8;0.79	5.47	5.47	0.80525	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.995;0.999;0.984	T	0.75780	-0.3197	10	0.87932	D	0	-31.6681	17.2115	0.86931	0.0:1.0:0.0:0.0	.	352;352;380;352	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	M	352	ENSP00000441897:L352M;ENSP00000374513:L352M;ENSP00000015877:L352M;ENSP00000353920:L352M	ENSP00000015877:L352M	L	+	1	2	ADARB1	45424763	1.000000	0.71417	0.616000	0.29078	0.696000	0.40369	4.579000	0.60936	2.748000	0.94277	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	1	0	0	7	104	0	38	0	5.704959e-01	1	27	0	38	2		0	0	0	0	0	2	1	9.804911e-01	7	102	0	37	2								-4.718990	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.640000	0.300000	0.970000	0.630000	0.650263	0.640000	0	4.500000e-01	8.400000e-01
POFUT2	23275	broad.mit.edu	37	21	46703411	46703411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46703411G>A	ENST00000349485.5	-	3	440	c.414C>T	c.(412-414)taC>taT	p.Y138Y	POFUT2_ENST00000471540.1_5'Flank|POFUT2_ENST00000331343.7_Silent_p.Y138Y	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2			20					TTTGCAGGACGTAAACCTGGT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000349485.5	1	1	hg19	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	G	1.333	-0.596142	0.03771	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.52	-1.3	0.09259	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48305	-0.9047	4	.	.	.	-32.6851	8.3022	0.32021	0.6096:0.0:0.3904:0.0	.	.	.	.	C	16	.	.	R	-	1	0	POFUT2	45527839	0.221000	0.23642	0.967000	0.41034	0.073000	0.16967	-0.450000	0.06803	-0.100000	0.12241	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	0	0	0	197	755	1	203	1	9.999945e-01	14	63	1	203	3		0	0	0	0	0	2	1	1	194	733	1	203	16								-20.000000	1	1	121412	1	44	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.970000	1.000000	1.000000	0.998450	0.990000	1	9.900000e-01	1
COL18A1	80781	broad.mit.edu	37	21	46893834	46893834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46893834G>A	ENST00000359759.4	+	3	1943	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H|COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1			25					CTGAAGGTGCGCAGGGACCCC	0.632000																								0							SO:0001583	missense			ENST00000359759.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.098	0.573551	0.13623	0.0	1.2E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02158	4.42;4.42;4.42	2.81	2.81	0.32909	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.405345	0.23598	N	0.046475	T	0.05823	0.0152	L	0.28556	0.865	0.33300	D	0.564707	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.986;0.976;0.953	T	0.26916	-1.0089	10	0.56958	D	0.05	.	11.3718	0.49704	0.0:0.0:1.0:0.0	.	641;406;226	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	H	226;226;406;641;641	ENSP00000383191:R226H;ENSP00000347665:R406H;ENSP00000352798:R641H	ENSP00000347665:R406H	R	+	2	0	COL18A1	45718262	0.994000	0.37717	0.061000	0.19648	0.073000	0.16967	2.871000	0.48459	1.889000	0.54706	0.186000	0.17326	CGC		TCGA-IB-7651-01A-11D-2154-08	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	1	0	1	16	51	0	11	0	1	1	487	0	11	2		0	0	0	0	0	2	1	9.999703e-01	16	51	0	10	2								-20.000000	1	1	120596	7	30	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.750000	1.000000	1.000000	0.936377	0.950000	1	8.600000e-01	1
COL18A1	80781	broad.mit.edu	37	21	46908341	46908341	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46908341G>A	ENST00000359759.4	+	17	3172	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S|COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1			25					GGGACCTCCCGGCCTGCCGGG	0.597000																								0							SO:0001583	missense			ENST00000359759.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.68	3.190930	0.58017	.	.	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.99329	-5.75;-5.75;-5.75	3.39	2.48	0.30137	.	0.132732	0.49916	D	0.000132	D	0.99513	0.9826	H	0.98256	4.185	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.67725	0.953;0.921;0.796	D	0.97195	0.9860	10	0.87932	D	0	.	7.9781	0.30166	0.0:0.0:0.7558:0.2442	.	1051;816;636	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	S	636;816;1051;1051	ENSP00000383191:G636S;ENSP00000347665:G816S;ENSP00000352798:G1051S	ENSP00000347665:G816S	G	+	1	0	COL18A1	45732769	0.903000	0.30736	0.009000	0.14445	0.097000	0.18754	3.660000	0.54496	0.763000	0.33175	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	1	0	0	46	458	0	93	1	1	14	425	0	93	2		0	0	0	0	0	2	1	1	46	451	0	91	2								-3.017764	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.900000	0.700000	1.000000	1.000000	0.894737	0.900000	1	8.000000e-01	9.800000e-01
COL18A1	80781	broad.mit.edu	37	21	46911190	46911190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46911190G>A	ENST00000359759.4	+	21	3385	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1			25					TGGCCCCCCCGGACCCCCGGG	0.687000																								0							SO:0001583	missense			ENST00000359759.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.78	3.473025	0.63737	0.0	1.22E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	D	0.99411	0.9792	H	0.97635	4.045	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98124	1.0427	10	0.72032	D	0.01	.	13.6811	0.62487	0.0:0.0:1.0:0.0	.	1122;887;707	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	R	707;707;887;1122;1122;54	ENSP00000383191:G707R;ENSP00000347665:G887R;ENSP00000352798:G1122R;ENSP00000339118:G54R	ENSP00000339118:G54R	G	+	1	0	COL18A1	45735618	0.953000	0.32496	0.963000	0.40424	0.253000	0.25986	1.790000	0.38734	2.159000	0.67721	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	1	0	0	30	144	0	27	1	1	7	544	0	27	2		0	0	0	0	0	2	1	1	30	140	0	25	2								-3.114122	1	1	119918	1	27	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.960000	0.820000	1.000000	1.000000	0.957199	0.960000	1	9.000000e-01	1
SLC19A1	6573	broad.mit.edu	37	21	46950795	46950795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46950795G>A	ENST00000311124.4	-	4	1192	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A347V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1			10				Methotrexate(DB00563)|Pralatrexate(DB06813)	GACCAGCCCCGCCTGCGTGGC	0.687000																								0							SO:0001583	missense			ENST00000311124.4	1	1	hg19	CCDS13725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.85|18.85	3.711962|3.711962	0.68730|0.68730	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649|ENST00000417954	D;D;D|.	0.89552|.	-2.53;-2.53;-2.53|.	3.76|3.76	3.76|3.76	0.43208|0.43208	Major facilitator superfamily domain, general substrate transporter (1);|.	0.113799|.	0.64402|.	D|.	0.000016|.	D|D	0.83552|0.83552	0.5279|0.5279	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999|.	D;D;D;D|.	0.66351|.	0.922;0.922;0.943;0.922|.	D|D	0.87984|0.87984	0.2745|0.2745	10|5	0.87932|.	D|.	0|.	-24.7675|-24.7675	15.0129|15.0129	0.71562|0.71562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	307;369;347;347|.	B7Z8C3;D3DSM6;E9PFY4;P41440|.	.;.;.;S19A1_HUMAN|.	V|W	94;347;347;307|82	ENSP00000308895:A347V;ENSP00000369347:A347V;ENSP00000441772:A307V|.	ENSP00000308895:A347V|.	A|R	-|-	2|1	0|2	SLC19A1|SLC19A1	45775223|45775223	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.116000|0.116000	0.19942|0.19942	8.683000|8.683000	0.91236|0.91236	2.034000|2.034000	0.60081|0.60081	0.289000|0.289000	0.19496|0.19496	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1	1	0	0	20	61	0	20	1	9.366242e-01	5	12	0	20	2		0	0	0	0	0	2	1	9.999979e-01	20	59	0	19	2								-20.000000	1	1	118550	1	26	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.960000	0.790000	1.000000	1.000000	0.950213	0.960000	1	8.900000e-01	1
PCBP3	54039	broad.mit.edu	37	21	47329321	47329321	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47329321C>T	ENST00000400314.1	+	8	730	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3			17	all_hematologic(128;0.24)				CCCCCAGTGACGCTGAGGCTG	0.597000																								0							SO:0001583	missense			ENST00000400314.1	1	1	hg19	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105317	0.77096	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.0	5.0	0.66597	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.956;1.0;0.999;0.978;1.0;0.986	T	0.75331	-0.3355	10	0.87932	D	0	-20.0627	18.6823	0.91551	0.0:1.0:0.0:0.0	.	99;131;99;131;131;131;131	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	M	131;131;131;131;131;131;107;99	ENSP00000383168:T131M;ENSP00000383165:T131M;ENSP00000383164:T131M;ENSP00000383163:T131M;ENSP00000401198:T131M;ENSP00000383160:T107M;ENSP00000383159:T99M	ENSP00000330225:T131M	T	+	2	0	PCBP3	46153749	1.000000	0.71417	0.360000	0.25837	0.615000	0.37417	7.331000	0.79192	2.502000	0.84385	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	1	0	1	103	329	0	96	0	7.273094e-01	0	10	0	96	2		0	0	0	0	0	2	1	1	102	324	0	94	2								-20.000000	1	1	121050	1	30	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.950000	1.000000	1.000000	0.994876	0.990000	1	9.800000e-01	1
PCBP3	54039	broad.mit.edu	37	21	47330914	47330914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47330914C>T	ENST00000400314.1	+	9	908	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400310.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3			17	all_hematologic(128;0.24)				TCATCCAGTGCGTCAAGCAGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000400314.1	1	1	hg19	CCDS42974.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	1	0	1	65	262	0	49	0	3.461172e-01	0	6	0	49	2		0	0	0	0	0	2	1	1	65	259	0	49	2								-20.000000	1	1	121234	1	29	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.920000	1.000000	1.000000	0.986186	0.990000	1	9.600000e-01	1
COL6A1	1291	broad.mit.edu	37	21	47410314	47410314	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47410314T>C	ENST00000361866.3	+	13	1094	c.980T>C	c.(979-981)aTc>aCc	p.I327T		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1			33	all_hematologic(128;0.24)				AAGCGTGGCATCGACGGGGTG	0.657000																								0							SO:0001583	missense			ENST00000361866.3	1	1	hg19	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003781	0.35320	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93133	-3.17	4.79	4.79	0.61399	.	0.462231	0.20711	N	0.087098	D	0.92064	0.7485	L	0.33668	1.02	0.23636	N	0.997236	D	0.63880	0.993	P	0.57620	0.824	D	0.83907	0.0293	10	0.11182	T	0.66	-14.5701	13.5188	0.61555	0.0:0.0:0.0:1.0	.	327	P12109	CO6A1_HUMAN	T	327	ENSP00000355180:I327T	ENSP00000355180:I327T	I	+	2	0	COL6A1	46234742	0.853000	0.29707	0.835000	0.33067	0.796000	0.44982	2.119000	0.41958	1.791000	0.52520	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	1	0	1	55	204	0	53	1	1	26	297	0	53	2		0	0	0	0	0	2	1	1	53	197	0	52	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.910000	1.000000	1.000000	0.983686	0.980000	1	9.500000e-01	1
COL6A1	1291	broad.mit.edu	37	21	47423624	47423624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47423624C>T	ENST00000361866.3	+	35	2898	c.2784C>T	c.(2782-2784)cgC>cgT	p.R928R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1			33	all_hematologic(128;0.24)				GCTTCTACCGCGAGGCCTCGT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000361866.3	1	1	hg19	CCDS13727.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	1	0	1	43	156	0	39	1	1	36	441	0	39	2		0	0	0	0	0	2	1	1	42	151	0	38	2								-20.000000	1	1	121312	3	31	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.880000	1.000000	1.000000	0.977611	0.980000	1	9.400000e-01	1
COL6A2	1292	broad.mit.edu	37	21	47532275	47532275	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47532275C>T	ENST00000300527.4	+	3	602	c.498C>T	c.(496-498)acC>acT	p.T166T	COL6A2_ENST00000357838.4_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T|COL6A2_ENST00000310645.5_Silent_p.T166T|COL6A2_ENST00000409416.1_Silent_p.T166T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2			43	Breast(49;0.245)				GCCACGTCACCGGCAGCCCCT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000300527.4	1	1	hg19	CCDS13728.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	1	34	128	0	19	0	1	0	297	0	19	2		0	0	0	0	0	2	1	1	33	124	0	19	2								-20.000000	1	1	119398	3	33	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.850000	1.000000	1.000000	0.969229	0.970000	1	9.300000e-01	1
COL6A2	1292	broad.mit.edu	37	21	47538546	47538546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47538546G>T	ENST00000300527.4	+	13	1239	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2			43	Breast(49;0.245)				TGGCCGCCCAGGACGCAGAGG	0.682000																								0							SO:0001587	stop_gained			ENST00000300527.4	0	1	hg19	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	39	7.405156	0.98262	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.3025	16.6052	0.84826	0.0:0.0:1.0:0.0	.	.	.	.	X	379	.	ENSP00000300527:G379X	G	+	1	0	COL6A2	46362974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.715000	0.84713	2.151000	0.67156	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	1	29	118	0	24	0	1	0	1075	0	24	2		0	0	0	0	0	2	1	1	29	116	0	24	2								-20.000000	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.830000	1.000000	1.000000	0.961010	0.970000	1	9.100000e-01	1
COL6A2	1292	broad.mit.edu	37	21	47546054	47546054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47546054C>T	ENST00000300527.4	+	26	2429	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I|COL6A2_ENST00000310645.5_Silent_p.I775I|COL6A2_ENST00000409416.1_Silent_p.I775I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2			43	Breast(49;0.245)				TCTACTCCATCGCCTGCGACA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000300527.4	1	1	hg19	CCDS13728.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	0	161	1420	0	351	1	1	3	1811	0	351	2		0	0	0	0	0	2	1	1	159	1402	0	347	2								-3.318794	1	1	121402	1	41	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.880000	1.000000	1.000000	0.972537	0.970000	1	9.300000e-01	1
COL6A2	1292	broad.mit.edu	37	21	47552176	47552176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552176G>A	ENST00000300527.4	+	28	2874	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2			43	Breast(49;0.245)				CGTGGTGCACGCCATCAATGC	0.667000																								0							SO:0001583	missense			ENST00000300527.4	1	1	hg19	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713630	0.48517	.	.	ENSG00000142173	ENST00000300527	D	0.82526	-1.62	4.18	4.18	0.49190	von Willebrand factor, type A (3);	0.118916	0.56097	U	0.000030	D	0.83229	0.5209	L	0.57536	1.79	0.80722	D	1	D	0.53619	0.961	P	0.50537	0.643	T	0.80688	-0.1271	10	0.10636	T	0.68	-24.3787	16.5088	0.84279	0.0:0.0:1.0:0.0	.	924	P12110	CO6A2_HUMAN	T	924	ENSP00000300527:A924T	ENSP00000300527:A924T	A	+	1	0	COL6A2	46376604	1.000000	0.71417	0.927000	0.36925	0.019000	0.09904	9.511000	0.98006	1.891000	0.54761	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	1	19	72	0	25	0	1	0	439	0	25	2		0	0	0	0	0	2	1	9.999920e-01	18	67	0	24	2								-20.000000	1	1	120738	3	28	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.760000	1.000000	1.000000	0.941778	0.950000	1	8.700000e-01	1
COL6A2	1292	broad.mit.edu	37	21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	rs140020002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2			43	Breast(49;0.245)				GGGCAGCGACGTGGACATGGA	0.662000																								0							SO:0001583	missense			ENST00000300527.4	1	1	hg19	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717812	0.30413	4.54E-4	0.0	ENSG00000142173	ENST00000300527	T	0.80393	-1.37	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.388276	0.26069	N	0.026522	D	0.86887	0.6041	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87150	0.2208	10	0.56958	D	0.05	-16.4704	10.6536	0.45663	0.0893:0.0:0.9107:0.0	.	980	P12110	CO6A2_HUMAN	M	980	ENSP00000300527:V980M	ENSP00000300527:V980M	V	+	1	0	COL6A2	46376772	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	5.117000	0.64667	2.001000	0.58596	0.297000	0.19635	GTG		TCGA-IB-7651-01A-11D-2154-08	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	1	0	1	37	154	0	46	0	1	0	685	0	46	2		0	0	0	0	0	2	1	1	37	152	0	46	2								-20.000000	1	1	121176	9	40	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.860000	1.000000	1.000000	0.970040	0.970000	1	9.300000e-01	1
FTCD	10841	broad.mit.edu	37	21	47556926	47556926	+	Missense_Mutation	SNP	T	T	A	rs144456078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47556926T>A	ENST00000291670.5	-	14	1644	c.1601A>T	c.(1600-1602)gAc>gTc	p.D534V	FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000359679.2_Silent_p.G527G|FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_3'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase			19	Breast(49;0.214)			Tetrahydrofolic acid(DB00116)	CTCCAAGCAGTCCAGCACCAG	0.642000																								0							SO:0001583	missense			ENST00000291670.5	1	1	hg19	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	T	3.124	-0.179945	0.06380	.	.	ENSG00000160282	ENST00000291670;ENST00000446405;ENST00000397746	T;T	0.45668	0.89;0.89	3.5	1.03	0.20045	Cyclodeaminase/cyclohydrolase (1);	.	.	.	.	T	0.35098	0.0920	M	0.65498	2.005	0.54753	D	0.999984	B	0.25955	0.138	B	0.24006	0.05	T	0.17837	-1.0356	9	0.48119	T	0.1	.	4.1292	0.10141	0.0:0.2331:0.1798:0.587	.	534	O95954	FTCD_HUMAN	V	534;68;534	ENSP00000291670:D534V;ENSP00000380854:D534V	ENSP00000291670:D534V	D	-	2	0	FTCD	46381354	0.011000	0.17503	0.469000	0.27204	0.064000	0.16182	0.238000	0.18004	0.365000	0.24400	0.374000	0.22700	GAC		TCGA-IB-7651-01A-11D-2154-08	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	1	0	1	40	141	0	45	0	5.114041e-02	1	1	0	45	2		0	0	0	0	0	2	1	1	39	140	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.880000	1.000000	1.000000	0.975910	0.980000	1	9.400000e-01	1
FTCD	10841	broad.mit.edu	37	21	47571627	47571627	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47571627C>T	ENST00000291670.5	-	5	524	c.481G>A	c.(481-483)Gac>Aac	p.D161N	FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N|FTCD_ENST00000397748.1_Missense_Mutation_p.D161N|FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase			19	Breast(49;0.214)			Tetrahydrofolic acid(DB00116)	GGACCAAAGTCGGGCGCCCAG	0.652000																								0							SO:0001583	missense			ENST00000291670.5	1	1	hg19	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773417	0.90108	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.57	4.57	0.56435	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase catalytic domain (1);Formiminotransferase, N-terminal subdomain (2);	0.120225	0.53938	D	0.000044	D	0.94640	0.8272	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.97;0.979;0.979	D	0.96523	0.9387	10	0.87932	D	0	.	17.362	0.87353	0.0:1.0:0.0:0.0	.	161;161;161	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	N	161	ENSP00000291670:D161N;ENSP00000380856:D161N;ENSP00000352707:D161N;ENSP00000347545:D161N;ENSP00000380854:D161N;ENSP00000380851:D161N	ENSP00000291670:D161N	D	-	1	0	FTCD	46396055	1.000000	0.71417	0.838000	0.33150	0.449000	0.32228	7.593000	0.82686	2.073000	0.62155	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	1	0	0	56	253	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	56	247	0	47	2								-3.426175	1	1	121162	10	38	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.900000	1.000000	1.000000	0.980856	0.980000	1	9.500000e-01	1
LSS	4047	broad.mit.edu	37	21	47639448	47639448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47639448G>T	ENST00000397728.3	-	6	667	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	LSS_ENST00000457828.2_Missense_Mutation_p.L117M|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.L197M|LSS_ENST00000522411.1_Missense_Mutation_p.L186M|AP001469.5_ENST00000418029.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)			21	Breast(49;0.214)				AGGACAGCCAGCCAGAACTTC	0.567000													Pancreas(114;955 2313 34923 50507)											0							SO:0001583	missense			ENST00000397728.3	1	1	hg19	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120599	0.56613	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.62	0.586	0.17434	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.64402	D	0.000002	T	0.77565	0.4149	M	0.87547	2.89	0.49483	D	0.999797	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76418	-0.2966	10	0.54805	T	0.06	.	9.4085	0.38477	0.3965:0.0:0.6035:0.0	.	186;197	E9PEI9;P48449	.;ERG7_HUMAN	M	197;117;197;186;198	ENSP00000348762:L197M;ENSP00000409191:L117M;ENSP00000380837:L197M;ENSP00000429133:L186M;ENSP00000391368:L198M	ENSP00000348762:L197M	L	-	1	2	LSS	46463876	1.000000	0.71417	0.984000	0.44739	0.921000	0.55340	1.199000	0.32235	0.173000	0.19788	-0.140000	0.14226	CTG		TCGA-IB-7651-01A-11D-2154-08	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2	1	0	1	19	181	0	45	1	9.662619e-01	6	50	0	45	2		0	0	0	0	0	2	1	9.999919e-01	18	179	0	45	2								-8.609340	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.860000	0.590000	1.000000	1.000000	0.853344	0.860000	1	7.300000e-01	9.700000e-01
MCM3AP	8888	broad.mit.edu	37	21	47664864	47664864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47664864G>A	ENST00000397708.1	-	24	5149	c.4895C>T	c.(4894-4896)tCc>tTc	p.S1632F	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F|MCM3AP-AS1_ENST00000588753.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein			72	Breast(49;0.112)				GACAGGCCAGGACAGGTCACA	0.597000																								0							SO:0001583	missense			ENST00000397708.1	1	1	hg19	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830034	0.50845	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.13538	2.58;2.58	5.45	5.45	0.79879	.	0.052103	0.85682	D	0.000000	T	0.40839	0.1133	M	0.73598	2.24	0.47819	D	0.999521	D;D	0.89917	1.0;1.0	D;D	0.78314	0.986;0.991	T	0.24584	-1.0156	10	0.72032	D	0.01	-24.0304	19.28	0.94050	0.0:0.0:1.0:0.0	.	1632;127	O60318;B3KT88	MCM3A_HUMAN;.	F	1632;1632;127	ENSP00000380820:S1632F;ENSP00000291688:S1632F	ENSP00000291688:S1632F	S	-	2	0	MCM3AP	46489292	1.000000	0.71417	0.999000	0.59377	0.220000	0.24768	5.694000	0.68272	2.545000	0.85829	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1	18	163	0	56	1	9.983993e-01	19	79	0	56	2		0	0	0	0	0	2	1	9.999851e-01	18	161	0	56	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.870000	0.590000	1.000000	1.000000	0.860748	0.870000	1	7.400000e-01	9.700000e-01
MCM3AP	8888	broad.mit.edu	37	21	47671525	47671525	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47671525G>T	ENST00000397708.1	-	21	4462	c.4208C>A	c.(4207-4209)gCt>gAt	p.A1403D	AP001469.9_ENST00000430259.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|AP001469.9_ENST00000447037.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein			72	Breast(49;0.112)				AATCCCACCAGCATCGCTGGA	0.373000																								0							SO:0001583	missense			ENST00000397708.1	1	1	hg19	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863979	0.32884	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.46819	0.86;0.86	5.44	1.23	0.21249	.	0.684405	0.15053	N	0.283175	T	0.29458	0.0734	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.12766	T	0.61	-2.1432	4.6531	0.12605	0.18:0.0:0.3759:0.444	.	1403	O60318	MCM3A_HUMAN	D	1403	ENSP00000380820:A1403D;ENSP00000291688:A1403D	ENSP00000291688:A1403D	A	-	2	0	MCM3AP	46495953	0.000000	0.05858	0.696000	0.30242	0.841000	0.47740	0.303000	0.19210	0.240000	0.21263	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1	25	126	0	45	1	9.994789e-01	11	53	0	45	2		0	0	0	0	0	2	1	9.999999e-01	25	126	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.780000	1.000000	1.000000	0.946126	0.950000	1	8.800000e-01	1
MCM3AP	8888	broad.mit.edu	37	21	47685237	47685237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47685237C>T	ENST00000397708.1	-	13	3486	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	p.E1078K(1)		72	Breast(49;0.112)				GTCCCTACCTCGTCAGAGTAC	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000397708.1	1	1	hg19	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588107	0.03799	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03745	3.82;3.82	5.29	-3.19	0.05171	.	1.031090	0.07574	N	0.919099	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48139	-0.9061	10	0.07030	T	0.85	-0.0616	4.9528	0.14023	0.2381:0.2867:0.0:0.4752	.	1078	O60318	MCM3A_HUMAN	K	1078	ENSP00000380820:E1078K;ENSP00000291688:E1078K	ENSP00000291688:E1078K	E	-	1	0	MCM3AP	46509665	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.207000	0.09384	-0.454000	0.07066	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1	46	163	0	41	1	9.999999e-01	8	86	0	41	2		0	0	0	0	0	2	1	1	46	161	0	39	2								-3.806742	1	1	121410	1	25	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.890000	1.000000	1.000000	0.979859	0.980000	1	9.500000e-01	1
MCM3AP	8888	broad.mit.edu	37	21	47686901	47686901	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47686901G>A	ENST00000397708.1	-	11	3038	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	MCM3AP_ENST00000291688.1_Silent_p.S928S			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein			72	Breast(49;0.112)				CTTACCCGTCGGAAACGGTGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000397708.1	1	1	hg19	CCDS13734.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1	31	123	0	37	1	9.999935e-01	10	70	0	37	2		0	0	0	0	0	2	1	1	30	120	0	36	2								-20.000000	1	1	121412	3	31	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.840000	1.000000	1.000000	0.964464	0.970000	1	9.200000e-01	1
MCM3AP	8888	broad.mit.edu	37	21	47690332	47690332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47690332G>A	ENST00000397708.1	-	10	2865	c.2611C>T	c.(2611-2613)Cac>Tac	p.H871Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein			72	Breast(49;0.112)				AAGTAACAGTGTAAAAGACAA	0.408000																								0							SO:0001583	missense			ENST00000397708.1	1	1	hg19	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768739	0.90020	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.29655	1.56;1.56	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.58847	-0.7564	10	0.54805	T	0.06	-23.8917	20.4366	0.99092	0.0:0.0:1.0:0.0	.	871	O60318	MCM3A_HUMAN	Y	871	ENSP00000380820:H871Y;ENSP00000291688:H871Y	ENSP00000291688:H871Y	H	-	1	0	MCM3AP	46514760	1.000000	0.71417	0.589000	0.28718	0.976000	0.68499	9.526000	0.98042	2.837000	0.97791	0.591000	0.81541	CAC		TCGA-IB-7651-01A-11D-2154-08	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1	57	415	0	94	1	9.992305e-01	17	62	0	94	2		0	0	0	0	0	2	1	1	56	409	0	94	2								-19.990730	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.960000	0.830000	1.000000	1.000000	0.960729	0.960000	1	9.100000e-01	1
MCM3AP	8888	broad.mit.edu	37	21	47692708	47692708	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47692708C>T	ENST00000397708.1	-	9	2486	c.2232G>A	c.(2230-2232)acG>acA	p.T744T	MCM3AP_ENST00000291688.1_Silent_p.T744T			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	p.T744T(1)		72	Breast(49;0.112)				TCAGGGACACCGTCAGGGGGT	0.547000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000397708.1	1	1	hg19	CCDS13734.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1	57	268	0	67	1	9.987941e-01	3	47	0	67	2		0	0	0	0	0	2	1	1	57	259	0	67	2								-3.142600	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.890000	1.000000	1.000000	0.980462	0.980000	1	9.500000e-01	1
MCM3AP	8888	broad.mit.edu	37	21	47697518	47697518	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47697518G>A	ENST00000397708.1	-	6	2035	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein			72	Breast(49;0.112)				GCCTATCAGGGTACTGAGGGA	0.572000																								0							SO:0001583	missense			ENST00000397708.1	1	1	hg19	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	8.435	0.849474	0.17034	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03553	3.89;3.89	5.74	4.81	0.61882	.	1.098820	0.06689	N	0.769359	T	0.05181	0.0138	L	0.44542	1.39	0.21527	N	0.99966	B	0.12630	0.006	B	0.17098	0.017	T	0.33240	-0.9876	10	0.28530	T	0.3	-0.202	8.6736	0.34165	0.0:0.1341:0.6186:0.2473	.	594	O60318	MCM3A_HUMAN	I	594	ENSP00000380820:T594I;ENSP00000291688:T594I	ENSP00000291688:T594I	T	-	2	0	MCM3AP	46521946	0.922000	0.31269	0.073000	0.20177	0.298000	0.27526	1.328000	0.33758	2.715000	0.92844	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	1	0	1	48	492	0	123	1	9.836031e-01	8	60	0	123	2		0	0	0	0	0	2	1	1	48	488	0	122	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.890000	0.690000	1.000000	1.000000	0.887055	0.890000	1	7.900000e-01	9.700000e-01
PCNT	5116	broad.mit.edu	37	21	47754626	47754626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47754626C>T	ENST00000359568.5	+	3	690	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				ACCAGAACAGCGTGGGATCTT	0.488000																								0							SO:0001583	missense			ENST00000359568.5	1	1	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	1.981	-0.434157	0.04669	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01685	4.69	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01353	0.0044	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	8	0.54805	T	0.06	.	.	.	.	.	77;195	O95613-2;O95613	.;PCNT_HUMAN	C	195;182	ENSP00000352572:R195C	ENSP00000338675:R182C	R	+	1	0	PCNT	46579054	0.219000	0.23619	0.002000	0.10522	0.002000	0.02628	0.882000	0.28186	-0.671000	0.05274	-0.657000	0.03884	CGT		TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	0	41	355	0	87	0	5.864914e-02	0	4	0	87	2		0	0	0	0	0	2	1	1	40	348	0	86	2								-14.471780	1	0	121410	4	35	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.930000	0.740000	1.000000	1.000000	0.922671	0.930000	1	8.400000e-01	9.900000e-01
PCNT	5116	broad.mit.edu	37	21	47766794	47766794	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47766794C>T	ENST00000359568.5	+	5	965	c.858C>T	c.(856-858)agC>agT	p.S286S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				TGCTCAACAGCCGGCGTGCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000359568.5	0	1	hg19	CCDS33592.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	0	16	54	0	9	1	8.257278e-01	4	9	0	9	2		0	0	0	0	0	2	1	9.999604e-01	16	52	0	8	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.950000	0.740000	1.000000	1.000000	0.934826	0.950000	1	8.600000e-01	1
PCNT	5116	broad.mit.edu	37	21	47769052	47769052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769052C>T	ENST00000359568.5	+	7	1266	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				ATTGGCAGAACAGAGAGCTGA	0.368000																								0							SO:0001587	stop_gained			ENST00000359568.5	0	1	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	37	6.425935	0.97555	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.0807	0.59112	0.0:0.8266:0.1734:0.0	.	.	.	.	X	387;374	.	ENSP00000338675:Q374X	Q	+	1	0	PCNT	46593480	0.997000	0.39634	1.000000	0.80357	0.868000	0.49771	3.357000	0.52277	2.630000	0.89119	0.558000	0.71614	CAG		TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	0	55	578	0	130	0	5.600953e-01	1	20	0	130	2		0	0	0	0	0	2	1	1	52	567	0	130	2								-14.532110	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.880000	0.690000	1.000000	1.000000	0.883638	0.880000	1	7.900000e-01	9.700000e-01
PCNT	5116	broad.mit.edu	37	21	47769729	47769729	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769729C>A	ENST00000359568.5	+	8	1446	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				AGAAAAACAGCTGGAGGTGGG	0.418000																								0							SO:0001583	missense			ENST00000359568.5	1	1	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748161	0.30955	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27256	1.68	3.98	3.08	0.35506	.	1.083490	0.07525	N	0.911145	T	0.38585	0.1046	L	0.42245	1.32	0.09310	N	0.999999	D;D	0.71674	0.998;0.997	D;D	0.70935	0.971;0.936	T	0.18147	-1.0346	10	0.48119	T	0.1	.	4.6375	0.12531	0.2353:0.6496:0.0:0.1151	.	329;447	O95613-2;O95613	.;PCNT_HUMAN	M	447;434	ENSP00000352572:L447M	ENSP00000338675:L434M	L	+	1	2	PCNT	46594157	0.633000	0.27181	0.235000	0.24058	0.204000	0.24138	0.734000	0.26101	1.269000	0.44280	0.551000	0.68910	CTG		TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	0	20	281	0	67	1	4.953700e-01	2	22	0	67	2		0	0	0	0	0	2	1	9.999953e-01	20	277	0	67	2								-19.999890	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.700000	0.440000	0.960000	0.690000	0.708941	0.700000	0	5.600000e-01	8.500000e-01
PCNT	5116	broad.mit.edu	37	21	47786808	47786808	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47786808C>T	ENST00000359568.5	+	15	3026	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				CTTTGGAATCCTGTTACCTCT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000359568.5	1	1	hg19	CCDS33592.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	0	22	570	0	124	1	1.819041e-01	3	17	0	124	2		0	0	0	0	0	2	1	9.999986e-01	21	566	0	123	2								-2.862805	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.390000	0.250000	0.570000	0.390000	0.410400	0.390000	0	3.200000e-01	4.900000e-01
PCNT	5116	broad.mit.edu	37	21	47817955	47817955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47817955C>T	ENST00000359568.5	+	23	4581	c.4474C>T	c.(4474-4476)Cgc>Tgc	p.R1492C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				GGAGCACGAGCGCGAGGAGTT	0.706000																								0							SO:0001583	missense			ENST00000359568.5	0	1	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098812	0.56183	.	.	ENSG00000160299	ENST00000359568	T	0.74315	-0.83	4.96	4.96	0.65561	.	0.000000	0.33005	N	0.005383	D	0.85544	0.5721	M	0.83953	2.67	0.46185	D	0.998918	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86913	0.2062	10	0.87932	D	0	.	10.7392	0.46143	0.1895:0.8104:0.0:0.0	.	1374;1492	O95613-2;O95613	.;PCNT_HUMAN	C	1492	ENSP00000352572:R1492C	ENSP00000352572:R1492C	R	+	1	0	PCNT	46642383	1.000000	0.71417	0.914000	0.36105	0.205000	0.24178	1.539000	0.36104	2.564000	0.86499	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1	11	42	0	8	0	3.024591e-01	1	4	0	8	2		0	0	0	0	0	2	1	9.988095e-01	11	41	0	8	2								-19.991630	1	1	120696	3	26	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.920000	0.650000	1.000000	1.000000	0.903474	0.920000	1	8.000000e-01	9.900000e-01
PCNT	5116	broad.mit.edu	37	21	47831618	47831618	+	Silent	SNP	C	C	T	rs16979162	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831618C>T	ENST00000359568.5	+	28	5738	c.5631C>T	c.(5629-5631)atC>atT	p.I1877I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				ATTTAGAAATCGACGCTCTGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000359568.5	1	0	hg19	CCDS33592.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	1	60	222	0	60	1	5.367963e-01	4	4	0	60	2		0	0	0	0	0	2	1	1	59	220	0	60	2								-0.877884	0	1	120706	12254	72	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.910000	1.000000	1.000000	0.985632	0.990000	1	9.600000e-01	1
PCNT	5116	broad.mit.edu	37	21	47831953	47831953	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831953C>A	ENST00000359568.5	+	28	6073	c.5966C>A	c.(5965-5967)gCt>gAt	p.A1989D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				CATGATGCTGCTTTGGAGCCG	0.617000																								0							SO:0001583	missense			ENST00000359568.5	1	1	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257216	0.10239	.	.	ENSG00000160299	ENST00000359568	T	0.01584	4.75	2.89	-3.84	0.04256	.	.	.	.	.	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	D;B	0.53745	0.962;0.0	P;B	0.45099	0.469;0.001	T	0.45425	-0.9262	9	0.13470	T	0.59	.	5.4084	0.16335	0.0:0.2433:0.5103:0.2463	.	1871;1989	O95613-2;O95613	.;PCNT_HUMAN	D	1989	ENSP00000352572:A1989D	ENSP00000352572:A1989D	A	+	2	0	PCNT	46656381	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.840000	0.01684	-0.580000	0.05944	-0.373000	0.07131	GCT		TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1	39	167	0	29	1	7.726241e-01	2	12	0	29	2		0	0	0	0	0	2	1	1	38	165	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.970000	0.860000	1.000000	1.000000	0.971205	0.970000	1	9.300000e-01	1
PCNT	5116	broad.mit.edu	37	21	47851714	47851714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851714G>A	ENST00000359568.5	+	38	8443	c.8336G>A	c.(8335-8337)tGc>tAc	p.C2779Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				CAGGAGGCTTGCGTGCACCAG	0.627000																								0							SO:0001583	missense			ENST00000359568.5	1	1	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.981997	0.18812	.	.	ENSG00000160299	ENST00000359568	T	0.10960	2.82	3.24	3.24	0.37175	.	.	.	.	.	T	0.22551	0.0544	L	0.54323	1.7	0.09310	N	0.999997	D;D	0.69078	0.997;0.991	D;P	0.73380	0.98;0.687	T	0.08513	-1.0718	9	0.06099	T	0.92	.	13.8003	0.63196	0.0:0.0:1.0:0.0	.	2661;2779	O95613-2;O95613	.;PCNT_HUMAN	Y	2779	ENSP00000352572:C2779Y	ENSP00000352572:C2779Y	C	+	2	0	PCNT	46676142	0.830000	0.29337	0.778000	0.31720	0.009000	0.06853	2.827000	0.48112	1.549000	0.49425	0.563000	0.77884	TGC		TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1	14	134	0	48	1	7.589614e-01	4	24	0	48	2		0	0	0	0	0	2	1	9.997719e-01	14	131	0	48	2								-19.918260	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.840000	0.530000	1.000000	1.000000	0.829149	0.840000	0	6.900000e-01	9.600000e-01
PCNT	5116	broad.mit.edu	37	21	47851775	47851775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851775C>T	ENST00000359568.5	+	38	8504	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				AGGAGAAGTCCCGGGTGGTGG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000359568.5	1	1	hg19	CCDS33592.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1	38	139	0	54	1	9.998727e-01	16	38	0	54	2		0	0	0	0	0	2	1	1	38	138	0	54	2								-20.000000	1	0	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.980000	0.870000	1.000000	1.000000	0.973649	0.980000	1	9.300000e-01	1
PCNT	5116	broad.mit.edu	37	21	47851912	47851912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851912C>T	ENST00000359568.5	+	38	8641	c.8534C>T	c.(8533-8535)tCg>tTg	p.S2845L	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				ACACTGAAGTCGACGGTGGAA	0.562000																								0							SO:0001583	missense			ENST00000359568.5	0	1	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625869	0.28889	.	.	ENSG00000160299	ENST00000359568	T	0.01527	4.8	4.7	1.88	0.25563	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47824	-0.9087	9	0.31617	T	0.26	.	9.2226	0.37386	0.0:0.692:0.0:0.308	.	2845	O95613	PCNT_HUMAN	L	2845	ENSP00000352572:S2845L	ENSP00000352572:S2845L	S	+	2	0	PCNT	46676340	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.510000	0.22723	0.171000	0.19730	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	0	0	21	202	1	45	0	3.889421e-01	2	40	1	45	5		0	0	0	0	0	2	1	8.237252e-01	21	196	1	44	16								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.870000	0.600000	1.000000	1.000000	0.858030	0.870000	1	7.300000e-01	9.700000e-01
PCNT	5116	broad.mit.edu	37	21	47860063	47860063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47860063C>T	ENST00000359568.5	+	42	9448	c.9341C>T	c.(9340-9342)cCc>cTc	p.P3114L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin			104	Breast(49;0.112)				CGCCCAGACCCCGGCCGGCTT	0.567000																								0							SO:0001583	missense			ENST00000359568.5	1	1	hg19	CCDS33592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.72|15.72	2.915887|2.915887	0.52546|0.52546	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160299|ENSG00000160299	ENST00000359568|ENST00000418394	T|T	0.01538|0.28454	4.79|1.61	4.96|4.96	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.18013|.	0.025;0.015|.	B;B|.	0.17433|.	0.018;0.008|.	T|T	0.28964|0.28964	-1.0027|-1.0027	9|7	0.56958|0.15499	D|T	0.05|0.54	.|.	5.8823|5.8823	0.18862|0.18862	0.1533:0.6805:0.0:0.1662|0.1533:0.6805:0.0:0.1662	.|.	2917;3114|.	O95613-2;O95613|.	.;PCNT_HUMAN|.	L|S	3114|95	ENSP00000352572:P3114L|ENSP00000404708:P95S	ENSP00000352572:P3114L|ENSP00000404708:P95S	P|P	+|+	2|1	0|0	PCNT|PCNT	46684491|46684491	0.060000|0.060000	0.20803|0.20803	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	2.134000|2.134000	0.42102|0.42102	0.335000|0.335000	0.23614|0.23614	-0.150000|-0.150000	0.13652|0.13652	CCC|CCG		TCGA-IB-7651-01A-11D-2154-08	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	1	0	1	111	509	0	116	1	9.782626e-01	10	20	0	116	2		0	0	0	0	0	2	1	1	111	503	0	112	2								-2.966670	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.990000	0.940000	1.000000	1.000000	0.993168	0.990000	1	9.700000e-01	1
DIP2A	23181	broad.mit.edu	37	21	47931370	47931370	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931370C>T	ENST00000417564.2	+	8	966	c.945C>T	c.(943-945)agC>agT	p.S315S	DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000457905.3_Silent_p.S315S|DIP2A_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000427143.2_Silent_p.S251S|DIP2A_ENST00000318711.7_Silent_p.S316S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)			43	Breast(49;0.0933)				CTGAGGGAAGCGAGACGAGTG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000417564.2	0	1	hg19	CCDS46655.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	1	0	1	12	84	0	22	1	9.677539e-01	21	23	0	22	2		0	0	0	0	0	2	1	9.992792e-01	12	83	0	19	2								-19.477800	1	1	120856	6	34	1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.880000	0.580000	1.000000	1.000000	0.867991	0.880000	1	7.400000e-01	9.800000e-01
DIP2A	23181	broad.mit.edu	37	21	47931507	47931507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931507C>T	ENST00000417564.2	+	8	1103	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V|DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V|DIP2A_ENST00000318711.7_Missense_Mutation_p.A362V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)			43	Breast(49;0.0933)				ACTGGGAAAGCCGTCTACACT	0.537000																								0							SO:0001583	missense			ENST00000417564.2	1	1	hg19	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	4.724	0.134557	0.09032	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.34	5.34	0.76211	.	0.147808	0.46145	D	0.000305	T	0.49779	0.1577	L	0.46157	1.445	0.58432	D	0.999991	B;B;D;B;B;B	0.59767	0.003;0.001;0.986;0.302;0.002;0.01	B;B;P;B;B;B	0.52481	0.013;0.026;0.7;0.254;0.015;0.056	T	0.40175	-0.9577	10	0.35671	T	0.21	-18.538	18.0406	0.89318	0.0:1.0:0.0:0.0	.	362;297;318;361;361;361	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	V	357;297;362;318;361;318;361;361	ENSP00000383133:A357V;ENSP00000400528:A297V;ENSP00000323633:A362V;ENSP00000393434:A361V;ENSP00000430249:A318V;ENSP00000415089:A361V;ENSP00000392066:A361V	ENSP00000323633:A362V	A	+	2	0	DIP2A	46755935	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	5.959000	0.70339	2.505000	0.84491	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	1	0	0	11	108	0	34	1	8.909848e-01	4	37	0	34	2		0	0	0	0	0	2	1	9.983781e-01	10	106	0	34	2								-17.000910	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.810000	0.480000	1.000000	1.000000	0.803678	0.810000	0	6.400000e-01	9.500000e-01
DIP2A	23181	broad.mit.edu	37	21	47966834	47966834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47966834C>A	ENST00000417564.2	+	21	2422	c.2401C>A	c.(2401-2403)Ctg>Atg	p.L801M	DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M|DIP2A_ENST00000318711.7_Missense_Mutation_p.L802M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)			43	Breast(49;0.0933)				TCAGGACAACCTGGTCTTCAT	0.612000																								0							SO:0001583	missense			ENST00000417564.2	1	1	hg19	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979798	0.53827	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.41	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000018	T	0.51890	0.1701	L	0.50993	1.605	0.51233	D	0.999918	D;P;D;D;D;B	0.89917	0.972;0.899;1.0;0.996;0.988;0.358	D;P;D;D;P;P	0.91635	0.928;0.53;0.999;0.913;0.856;0.577	T	0.47849	-0.9085	10	0.46703	T	0.11	-14.7334	7.009	0.24851	0.0:0.6354:0.0:0.3645	.	802;737;758;737;801;801	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4	.;.;.;.;DIP2A_HUMAN;.	M	797;737;802;758;801;758;801;801	ENSP00000383133:L797M;ENSP00000400528:L737M;ENSP00000323633:L802M;ENSP00000393434:L801M;ENSP00000430249:L758M;ENSP00000415089:L801M;ENSP00000392066:L801M	ENSP00000323633:L802M	L	+	1	2	DIP2A	46791262	0.400000	0.25295	0.998000	0.56505	0.918000	0.54935	0.823000	0.27366	0.980000	0.38523	0.467000	0.42956	CTG		TCGA-IB-7651-01A-11D-2154-08	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	1	0	1	24	102	0	18	1	9.960948e-01	16	25	0	18	2		0	0	0	0	0	2	1	9.999998e-01	24	98	0	18	2								-20.000000	1	1	0	0		1	0	1	1	1.813308	1	0.170000	2.060000	9.373806e-02	0.960000	0.790000	1.000000	1.000000	0.950767	0.960000	1	8.900000e-01	1
CCT8L2	150160	broad.mit.edu	37	22	17073413	17073413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17073413C>A	ENST00000359963.3	-	1	287	c.28G>T	c.(28-30)Gag>Tag	p.E10*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2			67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)			TGGGGCAGCTCCAGGGCTGAA	0.642000																								0							SO:0001587	stop_gained			ENST00000359963.3	0	1	hg19	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	35	5.512440	0.96402	.	.	ENSG00000198445	ENST00000359963	.	.	.	2.0	-0.773	0.10995	.	1.706560	0.04122	U	0.316429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.0478	7.4887	0.27449	0.0:0.4678:0.5322:0.0	.	.	.	.	X	10	.	ENSP00000353048:E10X	E	-	1	0	CCT8L2	15453413	0.000000	0.05858	0.009000	0.14445	0.625000	0.37756	0.513000	0.22770	-0.264000	0.09365	0.393000	0.25936	GAG		TCGA-IB-7651-01A-11D-2154-08	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1	1	0	1	55	236	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	53	232	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XKR3	150165	broad.mit.edu	37	22	17265006	17265006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17265006C>A	ENST00000331428.5	-	4	985	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3			21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)			GAATTATTTTCTTTGTTGCCA	0.423000																								0							SO:0001587	stop_gained			ENST00000331428.5	0	1	hg19	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.486806	0.44249	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.771	-0.572	0.11745	.	0.133902	0.47852	U	0.000212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.0931	0.14720	0.0:0.7434:0.0:0.2566	.	.	.	.	X	295	.	ENSP00000331704:E295X	E	-	1	0	XKR3	15645006	0.998000	0.40836	0.001000	0.08648	0.075000	0.17131	4.875000	0.63072	-0.093000	0.12396	0.297000	0.19635	GAA		TCGA-IB-7651-01A-11D-2154-08	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	1	0	0	10	188	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.323280e-01	6	85	0	74	2								-13.730710	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.640000	0.320000	1.000000	1.000000	0.673125	0.640000	0	4.600000e-01	9.500000e-01
XKR3	150165	broad.mit.edu	37	22	17280674	17280674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17280674C>T	ENST00000331428.5	-	3	678	c.576G>A	c.(574-576)tgG>tgA	p.W192*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3			21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)			TATTCAAAGGCCATTCTCGTA	0.348000																								0							SO:0001587	stop_gained			ENST00000331428.5	0	1	hg19	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271058	0.40194	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.762	0.762	0.18454	.	1.328570	0.06032	U	0.653304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.9778	0.09481	0.4122:0.5877:0.0:0.0	.	.	.	.	X	192	.	ENSP00000331704:W192X	W	-	3	0	XKR3	15660674	0.155000	0.22806	0.040000	0.18447	0.013000	0.08279	-0.245000	0.08890	0.752000	0.32923	0.289000	0.19496	TGG		TCGA-IB-7651-01A-11D-2154-08	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	1	0	1	102	591	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	101	583	0	131	2								-20.000000	1	1	120822	2	35	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XKR3	150165	broad.mit.edu	37	22	17288713	17288713	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17288713A>G	ENST00000331428.5	-	2	353	c.251T>C	c.(250-252)aTc>aCc	p.I84T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3			21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)			AAACATCAGGATAATTTGATC	0.338000																								0							SO:0001583	missense			ENST00000331428.5	1	1	hg19	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.902450	0.00058	.	.	ENSG00000172967	ENST00000331428	T	0.61274	0.12	0.539	-1.08	0.09936	.	0.225560	0.35646	U	0.003072	T	0.15046	0.0363	N	0.00313	-1.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32079	-0.9920	10	0.13108	T	0.6	.	4.5592	0.12152	0.4621:0.0:0.5379:0.0	.	84	Q5GH77	XKR3_HUMAN	T	84	ENSP00000331704:I84T	ENSP00000331704:I84T	I	-	2	0	XKR3	15668713	0.919000	0.31177	0.010000	0.14722	0.048000	0.14542	0.251000	0.18257	-0.642000	0.05480	-0.779000	0.03376	ATC		TCGA-IB-7651-01A-11D-2154-08	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	1	0	1	84	298	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	83	296	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAB4	128954	broad.mit.edu	37	22	17447087	17447087	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17447087G>A	ENST00000400588.1	-	6	1298	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4			44		all_epithelial(15;0.112)|Lung NSC(13;0.248)			TGAGTGGGGAGCCAAGCAGGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000400588.1	1	1	hg19	CCDS42976.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	1	0	1	80	326	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	78	320	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAB4	128954	broad.mit.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	p.R92P(1)		44		all_epithelial(15;0.112)|Lung NSC(13;0.248)			GTTGATGGTGCGCAGGGGCTT	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000400588.1	1	1	hg19	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296431	0.40594	.	.	ENSG00000215568	ENST00000400588	T	0.12361	2.69	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.32346	0.0826	M	0.75615	2.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.56958	D	0.05	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	H	92	ENSP00000383431:R92H	ENSP00000383431:R92H	R	-	2	0	GAB4	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	1	0	1	216	989	0	259		0	0	0	0	259	2		0	0	0	0	0	2	1	1	214	966	0	256	2								-20.000000	1	1	121374	2	38	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAB4	128954	broad.mit.edu	37	22	17488858	17488858	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17488858C>T	ENST00000400588.1	-	1	254	c.147G>A	c.(145-147)tcG>tcA	p.S49S	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4			44		all_epithelial(15;0.112)|Lung NSC(13;0.248)			TCTCGGGGGGCGACTTCCTCA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000400588.1	1	1	hg19	CCDS42976.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	1	0	0	24	103	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999998e-01	24	99	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
IL17RA	23765	broad.mit.edu	37	22	17586821	17586821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17586821T>C	ENST00000319363.6	+	11	1155	c.1022T>C	c.(1021-1023)gTc>gCc	p.V341A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A			30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)			CTGCTCATCGTCTGCATGACC	0.587000																								0							SO:0001583	missense			ENST00000319363.6	1	1	hg19	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818552	0.32145	.	.	ENSG00000177663	ENST00000319363	T	0.06528	3.29	5.21	5.21	0.72293	.	1.277380	0.05326	N	0.527439	T	0.11793	0.0287	M	0.64997	1.995	0.23978	N	0.996285	B	0.34015	0.435	B	0.30401	0.115	T	0.36311	-0.9753	10	0.59425	D	0.04	-5.4492	12.8275	0.57728	0.0:0.0:0.0:1.0	.	341	Q96F46	I17RA_HUMAN	A	341	ENSP00000320936:V341A	ENSP00000320936:V341A	V	+	2	0	IL17RA	15966821	0.986000	0.35501	0.842000	0.33263	0.137000	0.21094	3.177000	0.50871	1.971000	0.57363	0.459000	0.35465	GTC		TCGA-IB-7651-01A-11D-2154-08	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	1	0	1	20	168	0	33	1	9.810653e-01	16	41	0	33	2		0	0	0	0	0	2	1	9.999960e-01	20	165	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.810000	1.000000	1.000000	0.986748	0.990000	1	9.900000e-01	1
IL17RA	23765	broad.mit.edu	37	22	17590366	17590366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17590366C>T	ENST00000319363.6	+	13	2390	c.2257C>T	c.(2257-2259)Ctc>Ttc	p.L753F		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A			30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)			AGGCTTGATGCTCTCGCTCTT	0.662000																								0							SO:0001583	missense			ENST00000319363.6	1	1	hg19	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	6.369	0.436184	0.12104	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06294	3.32	4.48	-8.95	0.00765	.	1.479250	0.04012	N	0.298422	T	0.02047	0.0064	N	0.03608	-0.345	0.21897	N	0.999484	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.41574	-0.9501	10	0.02654	T	1	-2.7623	8.0081	0.30336	0.0:0.2511:0.2848:0.4641	.	701;753	D3YTB4;Q96F46	.;I17RA_HUMAN	F	701;753	ENSP00000320936:L753F	ENSP00000320936:L753F	L	+	1	0	IL17RA	15970366	0.700000	0.27796	0.009000	0.14445	0.239000	0.25481	-0.054000	0.11826	-1.855000	0.01162	-0.304000	0.09214	CTC		TCGA-IB-7651-01A-11D-2154-08	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	1	0	1	31	96	0	31	1	9.999795e-01	12	46	0	31	2		0	0	0	0	0	2	1	1	31	93	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CECR6	27439	broad.mit.edu	37	22	17601069	17601069	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17601069C>T	ENST00000331437.3	-	1	1074	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CECR6_ENST00000399875.1_Intron|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6			1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)			ATAAGCCAGGCCAGGTAGGCG	0.731000																								0							SO:0001583	missense			ENST00000331437.3	1	1	hg19	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	c	17.33	3.363564	0.61513	.	.	ENSG00000183307	ENST00000331437	.	.	.	3.51	3.51	0.40186	.	0.000000	0.64402	U	0.000013	T	0.64670	0.2619	L	0.32530	0.975	0.49299	D	0.999779	D	0.76494	0.999	D	0.74023	0.982	T	0.68307	-0.5443	9	0.59425	D	0.04	.	13.9866	0.64339	0.0:1.0:0.0:0.0	.	317	Q9BXQ6	CECR6_HUMAN	T	317	.	ENSP00000329318:A317T	A	-	1	0	CECR6	15981069	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.099000	0.64554	1.690000	0.51089	0.450000	0.29827	GCC		TCGA-IB-7651-01A-11D-2154-08	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	1	0	0	84	316	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	83	305	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CECR5	27440	broad.mit.edu	37	22	17619225	17619225	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17619225A>G	ENST00000336737.4	-	8	983	c.958T>C	c.(958-960)Tac>Cac	p.Y320H	CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H|CECR5_ENST00000399852.3_Missense_Mutation_p.Y120H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5			21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)			TTGGCGCCGTATACGTCAGAC	0.557000																								0							SO:0001583	missense			ENST00000336737.4	1	1	hg19	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995841	0.54147	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.23147	1.92;1.92;1.92	4.47	4.47	0.54385	HAD-like domain (2);	0.058061	0.64402	D	0.000001	T	0.51295	0.1666	M	0.84846	2.72	0.47214	D	0.999357	D;D;D;D	0.89917	0.96;1.0;1.0;1.0	P;D;D;D	0.80764	0.879;0.994;0.968;0.992	T	0.54337	-0.8309	10	0.17369	T	0.5	-9.4427	13.9375	0.64034	1.0:0.0:0.0:0.0	.	290;120;320;184	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	H	290;320;120	ENSP00000155674:Y290H;ENSP00000337358:Y320H;ENSP00000382745:Y120H	ENSP00000155674:Y290H	Y	-	1	0	CECR5	15999225	1.000000	0.71417	0.972000	0.41901	0.005000	0.04900	8.591000	0.90824	1.880000	0.54463	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	1	0	1	52	264	0	79	1	1	54	87	0	79	2		0	0	0	0	0	2	1	1	51	258	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CECR1	51816	broad.mit.edu	37	22	17663567	17663567	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17663567C>T	ENST00000399839.1	-	8	1436	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000262607.3_Missense_Mutation_p.S389N|CECR1_ENST00000330232.4_Missense_Mutation_p.S148N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1			25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)			GGGGTGTTTGCTCAAAGCAAA	0.498000																								0							SO:0001583	missense			ENST00000399839.1	1	1	hg19	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	1.001	-0.691072	0.03303	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	3.97	-6.59	0.01830	Adenosine/AMP deaminase (1);	0.583494	0.19011	N	0.125077	D	0.88793	0.6533	M	0.61703	1.905	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.74520	-0.3638	10	0.28530	T	0.3	.	6.1549	0.20332	0.3327:0.1248:0.4714:0.0711	.	389;148	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	389;148;389;347;389	ENSP00000382733:S389N;ENSP00000332871:S148N;ENSP00000262607:S389N;ENSP00000406443:S347N;ENSP00000382731:S389N	ENSP00000262607:S389N	S	-	2	0	CECR1	16043567	0.000000	0.05858	0.073000	0.20177	0.072000	0.16883	-1.682000	0.01935	-1.386000	0.02098	-0.424000	0.05967	AGC		TCGA-IB-7651-01A-11D-2154-08	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1	1	0	1	114	353	0	110	0	1	0	321	0	110	2		0	0	0	0	0	2	1	1	111	343	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CECR2	27443	broad.mit.edu	37	22	18003201	18003201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18003201C>T	ENST00000400585.2	+	9	961	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	CECR2_ENST00000400573.5_Missense_Mutation_p.R316C|CECR2_ENST00000262608.8_Missense_Mutation_p.R297C|CECR2_ENST00000342247.5_Missense_Mutation_p.R268C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			GGAAGAAGAGCGTCAGATTCT	0.493000																								0							SO:0001583	missense			ENST00000400585.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008830	0.75046	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.44083	0.93;1.55;1.56;1.17	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000097	T	0.62073	0.2398	M	0.64997	1.995	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.996;0.997;0.996	T	0.63274	-0.6674	10	0.87932	D	0	-22.3781	14.5723	0.68220	0.1463:0.8537:0.0:0.0	.	338;175;310;316	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	C	268;175;316;297	ENSP00000341219:R268C;ENSP00000383428:R175C;ENSP00000383417:R316C;ENSP00000262608:R297C	ENSP00000262608:R297C	R	+	1	0	CECR2	16383201	0.920000	0.31207	0.762000	0.31397	0.862000	0.49288	1.218000	0.32467	2.764000	0.94973	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1	12	48	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	9.993876e-01	12	47	0	19	2								-10.373800	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999454	0.990000	1	9.900000e-01	1
CECR2	27443	broad.mit.edu	37	22	18021876	18021876	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18021876C>A	ENST00000400585.2	+	16	1993	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	CECR2_ENST00000400573.5_Missense_Mutation_p.P660T|CECR2_ENST00000262608.8_Missense_Mutation_p.P661T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			CCTCCGAGGACCCAGGCTAGG	0.537000																								0							SO:0001583	missense			ENST00000400585.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.40	1.338446	0.24253	0.005035	1.2E-4	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.25085	1.94;1.94;1.82	5.21	4.19	0.49359	.	0.247728	0.28706	N	0.014409	T	0.19765	0.0475	L	0.56769	1.78	0.33570	D	0.598544	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.26189	-1.0110	10	0.45353	T	0.12	-11.8315	13.0016	0.58679	0.0:0.9212:0.0:0.0788	.	702;519;660	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	519;660;661	ENSP00000383428:P519T;ENSP00000383417:P660T;ENSP00000262608:P661T	ENSP00000262608:P661T	P	+	1	0	CECR2	16401876	0.981000	0.34729	0.915000	0.36163	0.467000	0.32768	1.946000	0.40283	1.408000	0.46895	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1	12	76	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.992435e-01	12	74	0	21	2								-4.264964	1	1	120900	66	45	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.900000	1.000000	1.000000	0.994235	0.990000	1	9.900000e-01	1
CECR2	27443	broad.mit.edu	37	22	18022006	18022006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022006C>T	ENST00000400585.2	+	16	2123	c.1685C>T	c.(1684-1686)gCt>gTt	p.A562V	CECR2_ENST00000400573.5_Missense_Mutation_p.A703V|CECR2_ENST00000262608.8_Missense_Mutation_p.A704V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			AGCATGTATGCTCCAGCTCAG	0.582000																								0							SO:0001583	missense			ENST00000400585.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.07	1.249044	0.22880	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.87;1.75	5.43	4.39	0.52855	.	0.517672	0.17787	N	0.162033	T	0.21267	0.0512	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23937	0.094;0.094;0.094	B;B;B	0.23852	0.049;0.031;0.031	T	0.23368	-1.0190	10	0.72032	D	0.01	-0.7584	16.1858	0.81950	0.0:0.8667:0.1333:0.0	.	745;562;703	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	562;703;704	ENSP00000383428:A562V;ENSP00000383417:A703V;ENSP00000262608:A704V	ENSP00000262608:A704V	A	+	2	0	CECR2	16402006	0.194000	0.23325	0.026000	0.17262	0.040000	0.13550	3.616000	0.54174	1.487000	0.48415	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1	22	98	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999994e-01	21	98	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
CECR2	27443	broad.mit.edu	37	22	18022140	18022140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022140C>T	ENST00000400585.2	+	16	2257	c.1819C>T	c.(1819-1821)Cac>Tac	p.H607Y	CECR2_ENST00000400573.5_Missense_Mutation_p.H748Y|CECR2_ENST00000262608.8_Missense_Mutation_p.H749Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			GAATCGAGTACACTCTGCCGT	0.592000																								0							SO:0001583	missense			ENST00000400585.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.69	3.191860	0.58017	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.28454	1.73;1.72;1.61	5.29	5.29	0.74685	.	0.219710	0.31847	N	0.006966	T	0.33323	0.0859	M	0.62723	1.935	0.41284	D	0.986931	P;P;P	0.46395	0.877;0.8;0.8	B;B;B	0.37943	0.261;0.261;0.261	T	0.36841	-0.9731	10	0.87932	D	0	-16.3606	17.289	0.87150	0.0:1.0:0.0:0.0	.	790;607;748	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	607;748;749	ENSP00000383428:H607Y;ENSP00000383417:H748Y;ENSP00000262608:H749Y	ENSP00000262608:H749Y	H	+	1	0	CECR2	16402140	0.957000	0.32711	0.998000	0.56505	0.908000	0.53690	2.757000	0.47557	2.756000	0.94617	0.561000	0.74099	CAC		TCGA-IB-7651-01A-11D-2154-08	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1	45	192	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	45	189	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CECR2	27443	broad.mit.edu	37	22	18022171	18022171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022171C>A	ENST00000400585.2	+	16	2288	c.1850C>A	c.(1849-1851)gCt>gAt	p.A617D	CECR2_ENST00000400573.5_Missense_Mutation_p.A758D|CECR2_ENST00000262608.8_Missense_Mutation_p.A759D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			AACCATGGTGCTACGAACCAA	0.557000																								0							SO:0001583	missense			ENST00000400585.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.00	2.997072	0.54147	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.27720	1.77;1.76;1.65	5.29	4.25	0.50352	.	0.627641	0.14414	N	0.321059	T	0.33294	0.0858	L	0.56769	1.78	0.33771	D	0.622995	P;P;P	0.42409	0.779;0.664;0.664	B;B;B	0.39299	0.296;0.296;0.296	T	0.52442	-0.8575	10	0.52906	T	0.07	-8.8794	14.2317	0.65898	0.0:0.851:0.149:0.0	.	800;617;758	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	D	617;758;759	ENSP00000383428:A617D;ENSP00000383417:A758D;ENSP00000262608:A759D	ENSP00000262608:A759D	A	+	2	0	CECR2	16402171	0.217000	0.23597	0.992000	0.48379	0.859000	0.49053	0.696000	0.25541	1.428000	0.47296	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1	32	209	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	32	206	0	38	2								-20.000000	1	0	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999707	0.990000	1	9.900000e-01	1
CECR2	27443	broad.mit.edu	37	22	18022369	18022369	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022369C>A	ENST00000400585.2	+	16	2486	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	CECR2_ENST00000400573.5_Missense_Mutation_p.S824Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S825Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			CCCTGCAAGTCTGCCGGACAT	0.602000																								0							SO:0001583	missense			ENST00000400585.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555683	0.65425	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32753	1.56;1.54;1.44	5.29	5.29	0.74685	.	0.393815	0.21845	N	0.068264	T	0.46288	0.1385	L	0.60455	1.87	0.30810	N	0.738989	D;D;D	0.61080	0.976;0.989;0.976	P;P;P	0.57283	0.726;0.817;0.726	T	0.51601	-0.8685	10	0.87932	D	0	-8.3622	13.8455	0.63466	0.0:0.8475:0.1525:0.0	.	866;683;824	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	683;824;825	ENSP00000383428:S683Y;ENSP00000383417:S824Y;ENSP00000262608:S825Y	ENSP00000262608:S825Y	S	+	2	0	CECR2	16402369	0.172000	0.23043	0.790000	0.31976	0.879000	0.50718	2.245000	0.43133	2.756000	0.94617	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	0	16	370	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	9.999252e-01	16	362	0	96	2								-16.474500	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.510000	0.300000	1.000000	0.480000	0.565517	0.510000	0	3.900000e-01	7.100000e-01
CECR2	27443	broad.mit.edu	37	22	18028909	18028909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18028909C>T	ENST00000400585.2	+	17	3878	c.3440C>T	c.(3439-3441)tCg>tTg	p.S1147L	CECR2_ENST00000400573.5_Missense_Mutation_p.S1289L|CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			CGGCAGAGCTCGTTGTCAGCC	0.512000																								0							SO:0001583	missense			ENST00000400585.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.746	0.506528	0.12883	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32515	1.58;1.57;1.45	4.68	2.42	0.29668	.	0.371246	0.19324	N	0.117047	T	0.24353	0.0590	M	0.62723	1.935	0.09310	N	0.999999	P;P;P	0.48998	0.918;0.918;0.918	B;B;B	0.33799	0.17;0.17;0.17	T	0.26503	-1.0101	10	0.72032	D	0.01	-8.035	9.019	0.36188	0.0:0.7703:0.1468:0.0829	.	1331;1147;1289	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1147;1289;1290	ENSP00000383428:S1147L;ENSP00000383417:S1289L;ENSP00000262608:S1290L	ENSP00000262608:S1290L	S	+	2	0	CECR2	16408909	0.011000	0.17503	0.010000	0.14722	0.003000	0.03518	2.305000	0.43664	1.105000	0.41606	-0.266000	0.10368	TCG		TCGA-IB-7651-01A-11D-2154-08	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1	105	430	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1	105	422	0	121	2								-3.211725	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CECR2	27443	broad.mit.edu	37	22	18031740	18031740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18031740G>A	ENST00000400585.2	+	18	4248	c.3810G>A	c.(3808-3810)tcG>tcA	p.S1270S	CECR2_ENST00000400573.5_Silent_p.S1412S|CECR2_ENST00000262608.8_Silent_p.S1413S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2			59		all_epithelial(15;0.139)			CGGTCCAGTCGCAGGCCTCGT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000400585.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	0	1	58	322	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	1	57	305	0	83	2								-20.000000	1	1	121070	11	41	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL2L13	23786	broad.mit.edu	37	22	18171769	18171769	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18171769T>G	ENST00000317582.5	+	4	594	c.247T>G	c.(247-249)Ttt>Gtt	p.F83V	BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000355028.3_Missense_Mutation_p.F83V|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)			15		all_epithelial(15;0.123)			CAGCACAGGCTTTGACCGTCA	0.443000																								0							SO:0001583	missense			ENST00000317582.5	1	1	hg19	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515006	0.85389	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.83275	0.937;0.996;0.937	T	0.01617	-1.1311	10	0.62326	D	0.03	-18.3954	15.7532	0.78005	0.0:0.0:0.0:1.0	.	83;83;83	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	V	83	ENSP00000382682:F83V;ENSP00000318883:F83V;ENSP00000434764:F83V;ENSP00000347133:F83V	ENSP00000318883:F83V	F	+	1	0	BCL2L13	16551769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.200000	0.77838	2.117000	0.64856	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	1	0	1	104	421	0	77	1	1	73	118	0	77	2		0	0	0	0	0	2	1	1	101	405	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MICAL3	57553	broad.mit.edu	37	22	18273538	18273538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18273538G>A	ENST00000441493.2	-	32	6321	c.5969C>T	c.(5968-5970)gCt>gTt	p.A1990V	MICAL3_ENST00000580469.1_5'Flank|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3			4		all_epithelial(15;0.198)			CAGCATGGCAGCCTCCAGGTC	0.607000																								0							SO:0001583	missense			ENST00000441493.2	0	1	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271560	0.80469	.	.	ENSG00000093100	ENST00000441493	T	0.66099	-0.19	5.0	3.98	0.46160	.	0.281639	0.31566	N	0.007430	T	0.73210	0.3558	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.73990	-0.3808	10	0.59425	D	0.04	.	8.843	0.35153	0.0764:0.0:0.7759:0.1478	.	1990	Q7RTP6	MICA3_HUMAN	V	1990	ENSP00000416015:A1990V	ENSP00000416015:A1990V	A	-	2	0	XXbac-B461K10.4	16653538	1.000000	0.71417	0.982000	0.44146	0.968000	0.65278	5.543000	0.67225	1.242000	0.43836	-0.291000	0.09656	GCT		TCGA-IB-7651-01A-11D-2154-08	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	0	0	0	4	88	0	16	0	4.537154e-01	1	29	0	16	2		0	0	0	0	0	2	1	8.839978e-01	4	85	0	15	2								-8.024596	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.590000	0.200000	1.000000	1.000000	0.631375	0.590000	0	3.500000e-01	1
MICAL3	57553	broad.mit.edu	37	22	18301163	18301163	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18301163G>T	ENST00000441493.2	-	26	4616	c.4264C>A	c.(4264-4266)Ctg>Atg	p.L1422M	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3			4		all_epithelial(15;0.198)			CTGCTGGACAGCTCCCTGCGC	0.682000																								0							SO:0001583	missense			ENST00000441493.2	1	1	hg19	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.657804|2.657804	0.47467|0.47467	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.70282|.	-0.47|.	4.42|4.42	3.15|3.15	0.36227|0.36227	.|.	.|.	.|.	.|.	.|.	T|T	0.50735|0.50735	0.1633|0.1633	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.48911|.	0.917|.	P|.	0.46659|.	0.523|.	T|T	0.53265|0.53265	-0.8463|-0.8463	9|5	0.49607|.	T|.	0.09|.	.|.	2.3109|2.3109	0.04186|0.04186	0.1661:0.1829:0.4897:0.1613|0.1661:0.1829:0.4897:0.1613	.|.	1422|.	Q7RTP6|.	MICA3_HUMAN|.	M|R	1422|403	ENSP00000416015:L1422M|.	ENSP00000416015:L1422M|.	L|S	-|-	1|3	2|2	XXbac-B461K10.4|XXbac-B461K10.4	16681163|16681163	0.779000|0.779000	0.28652|0.28652	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	0.914000|0.914000	0.28624|0.28624	2.013000|2.013000	0.59113|0.59113	0.455000|0.455000	0.32223|0.32223	CTG|AGC		TCGA-IB-7651-01A-11D-2154-08	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	1	0	0	107	333	0	65	1	9.529585e-01	7	11	0	65	2		0	0	0	0	0	2	1	1	105	330	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MICAL3	57553	broad.mit.edu	37	22	18385498	18385498	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18385498T>C	ENST00000441493.2	-	4	840	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R|MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3			4		all_epithelial(15;0.198)			AAGTATTAGTTGGAGCTGACG	0.502000																								0							SO:0001583	missense			ENST00000441493.2	0	1	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633749	0.87660	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09;3.09	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.93197	3.39	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;0.996	D;D;D;D;D	0.97110	0.999;0.985;1.0;1.0;0.985	T	0.54715	-0.8252	10	0.87932	D	0	.	16.2169	0.82237	0.0:0.0:0.0:1.0	.	163;163;163;163;163	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	R	163	ENSP00000416015:Q163R;ENSP00000414846:Q163R;ENSP00000383406:Q163R;ENSP00000410315:Q163R;ENSP00000391827:Q163R;ENSP00000372574:Q163R;ENSP00000207726:Q163R	ENSP00000207726:Q163R	Q	-	2	0	XXbac-B461K10.4;MICAL3	16765498	1.000000	0.71417	0.937000	0.37676	0.841000	0.47740	8.036000	0.88901	2.223000	0.72356	0.533000	0.62120	CAA		TCGA-IB-7651-01A-11D-2154-08	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	1	0	1	7	45	0	14	1	6.715706e-01	4	12	0	14	2		0	0	0	0	0	2	1	9.831882e-01	7	45	0	14	2								-13.865920	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.730000	1.000000	1.000000	0.981486	0.990000	1	9.900000e-01	1
MICAL3	57553	broad.mit.edu	37	22	18387407	18387407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18387407C>T	ENST00000441493.2	-	3	815	c.463G>A	c.(463-465)Gac>Aac	p.D155N	MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N|MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3			4		all_epithelial(15;0.198)			CTGATATGGTCGATGGCTCCA	0.478000																								0							SO:0001583	missense			ENST00000441493.2	1	1	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808007	0.96967	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.989;1.0;0.999	D;D;P;D;D	0.91635	0.999;0.962;0.753;0.994;0.973	T	0.00529	-1.1687	10	0.66056	D	0.02	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	155;155;155;155;155	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	N	155	ENSP00000416015:D155N;ENSP00000414846:D155N;ENSP00000383406:D155N;ENSP00000410315:D155N;ENSP00000391827:D155N;ENSP00000372574:D155N;ENSP00000207726:D155N	ENSP00000207726:D155N	D	-	1	0	XXbac-B461K10.4;MICAL3	16767407	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	1	0	1	130	609	0	182	1	8.495217e-01	5	13	0	182	2		0	0	0	0	0	2	1	1	128	600	0	179	2								-20.000000	1	1	121380	1	35	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBA8	51807	broad.mit.edu	37	22	18604408	18604408	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18604408A>C	ENST00000330423.3	+	2	239	c.166A>C	c.(166-168)Act>Cct	p.T56P	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8			14					TTTCAGCGAGACTGGCAATGG	0.557000																								0							SO:0001583	missense			ENST00000330423.3	1	1	hg19	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818843	0.50633	.	.	ENSG00000183785	ENST00000330423;ENST00000416740	T;T	0.70869	-0.52;-0.52	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.171645	0.50627	D	0.000104	T	0.80423	0.4620	H	0.95260	3.645	0.54753	D	0.999987	B;B;B	0.24186	0.058;0.022;0.099	B;B;B	0.27796	0.083;0.027;0.044	T	0.82376	-0.0488	10	0.87932	D	0	.	14.2915	0.66281	1.0:0.0:0.0:0.0	.	80;56;55	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	P	56;80	ENSP00000333326:T56P;ENSP00000412646:T80P	ENSP00000333326:T56P	T	+	1	0	TUBA8	16984408	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.339000	0.96797	2.030000	0.59900	0.459000	0.35465	ACT		TCGA-IB-7651-01A-11D-2154-08	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	0	0	1	51	234	0	44	0	4.388277e-01	1	7	0	44	2		0	0	0	0	0	2	1	1	51	230	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBA8	51807	broad.mit.edu	37	22	18609176	18609176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609176G>A	ENST00000330423.3	+	4	504	c.431G>A	c.(430-432)gGc>gAc	p.G144D	TUBA8_ENST00000316027.6_Missense_Mutation_p.G78D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8			14					TTTGGTGGGGGCACTGGCTCC	0.537000																								0							SO:0001583	missense			ENST00000330423.3	1	1	hg19	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	17.98	3.520016	0.64634	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.89485	-2.52;-2.52;-2.52	5.49	5.49	0.81192	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.99983	5.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99466	1.0944	10	0.87932	D	0	.	18.7174	0.91680	0.0:0.0:1.0:0.0	.	168;144	C9J2C0;Q9NY65	.;TBA8_HUMAN	D	78;144;168	ENSP00000318575:G78D;ENSP00000333326:G144D;ENSP00000412646:G168D	ENSP00000318575:G78D	G	+	2	0	TUBA8	16989176	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	0	0	0	26	704	0	156	0	1.055375e-01	0	15	0	156	2		0	0	0	0	0	2	1	9.999999e-01	26	681	0	153	2								-3.300855	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.430000	0.280000	1.000000	0.420000	0.494777	0.430000	0	3.500000e-01	5.700000e-01
TUBA8	51807	broad.mit.edu	37	22	18609586	18609586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609586G>A	ENST00000330423.3	+	4	914	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	TUBA8_ENST00000316027.6_Missense_Mutation_p.A215T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8			14					TGCCGAGAAAGCCTATCACGA	0.582000																								0							SO:0001583	missense			ENST00000330423.3	1	1	hg19	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.183629	0.78677	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.82081	-1.57;-1.57;-1.57	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.96048	3.76	0.80722	D	1	P;P;B	0.49783	0.91;0.928;0.064	P;P;B	0.51945	0.569;0.685;0.058	D	0.94254	0.7496	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	215;305;281	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	215;281;305	ENSP00000318575:A215T;ENSP00000333326:A281T;ENSP00000412646:A305T	ENSP00000318575:A215T	A	+	1	0	TUBA8	16989586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	1	0	1	112	459	0	118	1	8.923441e-01	4	14	0	118	2		0	0	0	0	0	2	1	1	111	451	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGCR6	8214	broad.mit.edu	37	22	18898402	18898402	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898402C>T	ENST00000331444.6	+	4	526	c.374C>T	c.(373-375)gCg>gTg	p.A125V	DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6			3					CCACGGCAGGCGGTGGAGCAC	0.657000																								0							SO:0001630	splice_region_variant			ENST00000331444.6	1	0	hg19	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870249	0.51588	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.32988	1.43	4.84	4.84	0.62591	.	0.324157	0.31976	N	0.006774	T	0.33498	0.0865	M	0.67953	2.075	0.46437	D	0.999046	B	0.24368	0.102	B	0.14578	0.011	T	0.11446	-1.0587	10	0.38643	T	0.18	-11.6622	15.7939	0.78394	0.0:1.0:0.0:0.0	.	125	Q14129	DGCR6_HUMAN	V	125;45	ENSP00000331681:A125V	ENSP00000331681:A125V	A	+	2	0	DGCR6	17278402	0.995000	0.38212	0.929000	0.37066	0.011000	0.07611	3.266000	0.51569	2.421000	0.82119	0.430000	0.28490	GCG		TCGA-IB-7651-01A-11D-2154-08	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	1	0	0	36	166	0	28	1	9.999349e-01	19	53	0	28	2		0	0	0	0	0	2	1	1	35	162	0	28	2								-3.437183	1	0	121076	2	29	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DGCR6	8214	broad.mit.edu	37	22	18898435	18898435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898435C>T	ENST00000331444.6	+	4	559	c.407C>T	c.(406-408)gCg>gTg	p.A136V	DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6			3					GAGCAGCGGGCGATGGACCAG	0.677000																								0							SO:0001583	missense			ENST00000331444.6	1	1	hg19	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111898	0.37242	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.30182	1.54	4.84	3.8	0.43715	.	0.137408	0.64402	D	0.000006	T	0.18718	0.0449	L	0.34521	1.04	0.22066	N	0.999382	P	0.38767	0.646	B	0.31495	0.131	T	0.20371	-1.0277	10	0.56958	D	0.05	-12.7504	8.0617	0.30638	0.0:0.8115:0.0:0.1885	.	136	Q14129	DGCR6_HUMAN	V	136;56	ENSP00000331681:A136V	ENSP00000331681:A136V	A	+	2	0	DGCR6	17278435	0.300000	0.24435	0.838000	0.33150	0.545000	0.35147	2.182000	0.42556	2.421000	0.82119	0.430000	0.28490	GCG		TCGA-IB-7651-01A-11D-2154-08	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	1	0	1	43	201	0	25	1	9.999924e-01	24	63	0	25	2		0	0	0	0	0	2	1	1	43	196	0	25	2								-19.999960	1	0	121310	1	28	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRODH	5625	broad.mit.edu	37	22	18910658	18910658	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18910658C>A	ENST00000357068.6	-	5	967	c.702G>T	c.(700-702)aaG>aaT	p.K234N	PRODH_ENST00000420436.1_Missense_Mutation_p.K126N|PRODH_ENST00000334029.2_Missense_Mutation_p.K126N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1			9				L-Proline(DB00172)	GTGCTGTGAGCTTAATGGCTA	0.572000																								0							SO:0001583	missense			ENST00000357068.6	1	1	hg19	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.436079	0.43224	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.54071	0.59;0.59	4.98	2.82	0.32997	Proline dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	M	0.90870	3.155	0.54753	D	0.999985	D;D;D	0.60160	0.971;0.987;0.987	P;D;D	0.65140	0.841;0.926;0.932	T	0.72312	-0.4331	10	0.87932	D	0	-63.2333	6.6797	0.23113	0.0:0.7574:0.0:0.2426	.	150;234;126	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	N	234;27;75	ENSP00000349577:K234N;ENSP00000396806:K75N	ENSP00000334726:K126N	K	-	3	2	PRODH	17290658	0.998000	0.40836	1.000000	0.80357	0.145000	0.21501	0.497000	0.22514	0.589000	0.29677	0.550000	0.68814	AAG		TCGA-IB-7651-01A-11D-2154-08	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	1	0	1	105	474	0	129	1	2.276723e-01	5	0	0	129	2		0	0	0	0	0	2	1	1	105	468	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGCR2	9993	broad.mit.edu	37	22	19028666	19028666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19028666G>A	ENST00000263196.7	-	9	1548	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2			18	Colorectal(54;0.0993)				CTTGTATGCCGTGTAGGGAGG	0.642000																								0							SO:0001583	missense			ENST00000263196.7	1	1	hg19	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790750	0.90367	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97161	0.84;-4.27	5.97	5.97	0.96955	.	0.044331	0.85682	D	0.000000	D	0.98108	0.9376	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67103	0.949;0.891	D	0.97900	1.0302	10	0.48119	T	0.1	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	390;434	B7Z3T5;P98153	.;IDD_HUMAN	M	393;434	ENSP00000440062:T393M;ENSP00000263196:T434M	ENSP00000263196:T434M	T	-	2	0	DGCR2	17408666	1.000000	0.71417	0.975000	0.42487	0.760000	0.43138	7.890000	0.87313	2.837000	0.97791	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	1	0	1	65	297	0	63	1	1	86	188	0	63	2		0	0	0	0	0	2	1	1	64	291	0	63	2								-3.402958	1	1	121408	2	32	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGCR2	9993	broad.mit.edu	37	22	19076975	19076975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19076975C>T	ENST00000263196.7	-	2	355	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DGCR2_ENST00000545799.1_Silent_p.A36A|DGCR2_ENST00000537045.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2			18	Colorectal(54;0.0993)				CGCTGCGACACGCAAACTGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000263196.7	1	1	hg19	CCDS33598.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	1	0	1	66	235	0	61	1	1	50	111	0	61	2		0	0	0	0	0	2	1	1	63	227	0	60	2								-20.000000	1	1	121400	1	28	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSSK2	23617	broad.mit.edu	37	22	19119450	19119450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119450G>A	ENST00000399635.2	+	1	1130	c.538G>A	c.(538-540)Gca>Aca	p.A180T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2			11	Colorectal(54;0.0993)				CGGGTCGGCAGCATATGCAGC	0.592000																								0							SO:0001583	missense			ENST00000399635.2	1	1	hg19	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241807	0.58995	.	.	ENSG00000206203	ENST00000399635	T	0.64991	-0.13	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000140	T	0.75671	0.3881	L	0.53780	1.695	0.39311	D	0.96508	D	0.89917	1.0	D	0.85130	0.997	T	0.75204	-0.3400	10	0.39692	T	0.17	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	180	Q96PF2	TSSK2_HUMAN	T	180	ENSP00000382544:A180T	ENSP00000382544:A180T	A	+	1	0	TSSK2	17499450	0.322000	0.24634	0.088000	0.20740	0.068000	0.16541	2.742000	0.47434	2.487000	0.83934	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1	0	0	0	62	645	1	106	0	2.256458e-02	0	3	1	106	2		0	0	0	0	0	2	1	9.999983e-01	61	638	1	105	22								-16.213640	1	0	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.810000	1.000000	1.000000	0.974428	0.990000	1	9.200000e-01	1
TSSK2	23617	broad.mit.edu	37	22	19119459	19119459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119459G>A	ENST00000399635.2	+	1	1139	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2			11	Colorectal(54;0.0993)				AGCATATGCAGCCCCCGAGGT	0.597000																								0							SO:0001583	missense			ENST00000399635.2	1	1	hg19	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120288	0.77323	.	.	ENSG00000206203	ENST00000399635	D	0.92099	-2.97	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000140	D	0.97567	0.9203	H	0.96662	3.86	0.44309	D	0.997186	D	0.76494	0.999	D	0.78314	0.991	D	0.98911	1.0780	10	0.87932	D	0	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	183	Q96PF2	TSSK2_HUMAN	T	183	ENSP00000382544:A183T	ENSP00000382544:A183T	A	+	1	0	TSSK2	17499459	1.000000	0.71417	0.978000	0.43139	0.764000	0.43329	5.266000	0.65525	2.487000	0.83934	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1	1	0	1	127	574	0	110	0	8.755459e-02	0	3	0	110	2		0	0	0	0	0	2	1	1	126	567	0	109	2								-20.000000	1	0	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A1	6576	broad.mit.edu	37	22	19163678	19163678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19163678C>T	ENST00000215882.5	-	9	1057	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M|SLC25A1_ENST00000461267.1_5'Flank	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1			2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)			AGCAGCTTCACCACTTCATCA	0.602000																								0							SO:0001583	missense			ENST00000215882.5	1	1	hg19	CCDS13758.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640612	0.29157	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.79141	-1.24;-1.24	5.12	5.12	0.69794	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	N	0.03294	-0.36	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.25987	0.065;0.065	T	0.57802	-0.7748	10	0.02654	T	1	-17.2283	18.7549	0.91828	0.0:1.0:0.0:0.0	.	308;301	D9HTE9;P53007	.;TXTP_HUMAN	M	301;198	ENSP00000215882:V301M;ENSP00000401480:V198M	ENSP00000215882:V301M	V	-	1	0	SLC25A1	17543678	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.596000	0.82721	2.661000	0.90470	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316441.1	1	0	1	93	506	0	119	1	1	111	294	0	119	2		0	0	0	0	0	2	1	1	92	498	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLTCL1	8218	broad.mit.edu	37	22	19226854	19226854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19226854C>T	ENST00000263200.10	-	5	811	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1			49	Colorectal(54;0.0993)				ACATCTACTGCTTTCTTTACA	0.443000			T	?	ALCL										Dom	yes		22	22q11.21	8218	clathrin, heavy polypeptide-like 1		L	0							SO:0001583	missense			ENST00000263200.10	1	1	hg19	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239292	0.39598	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23147	1.92;1.92;1.92	3.91	1.72	0.24424	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.235741	0.34411	N	0.003991	T	0.21590	0.0520	L	0.49571	1.57	0.58432	D	0.999993	B;B	0.12013	0.002;0.005	B;B	0.22880	0.035;0.042	T	0.04885	-1.0920	10	0.34782	T	0.22	-3.3688	8.444	0.32830	0.0:0.7569:0.1558:0.0873	.	247;247	P53675-2;P53675	.;CLH2_HUMAN	T	247	ENSP00000439662:A247T;ENSP00000445677:A247T;ENSP00000441158:A247T	ENSP00000445677:A247T	A	-	1	0	CLTCL1	17606854	1.000000	0.71417	0.914000	0.36105	0.626000	0.37791	4.046000	0.57376	0.286000	0.22352	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	0	0	1	165	767	1	202	1	5.522177e-01	2	8	1	202	2		0	0	0	0	0	2	1	1	164	751	0	197	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL40	64976	broad.mit.edu	37	22	19422398	19422398	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19422398A>C	ENST00000333130.3	+	3	930	c.277A>C	c.(277-279)Aag>Cag	p.K93Q	MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40			2	Colorectal(54;0.0993)				TACCCCTCTAAAGTTCTTGGA	0.403000																								0							SO:0001583	missense			ENST00000333130.3	1	1	hg19	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955592	0.34471	.	.	ENSG00000185608	ENST00000333130	T	0.46063	0.88	4.59	3.56	0.40772	.	0.159814	0.53938	D	0.000042	T	0.40909	0.1136	M	0.73430	2.235	0.48632	D	0.999688	B	0.12630	0.006	B	0.16722	0.016	T	0.35871	-0.9771	10	0.54805	T	0.06	-13.9279	7.116	0.25416	0.7748:0.1472:0.078:0.0	.	93	Q9NQ50	RM40_HUMAN	Q	93	ENSP00000333401:K93Q	ENSP00000333401:K93Q	K	+	1	0	MRPL40	17802398	0.999000	0.42202	0.543000	0.28128	0.842000	0.47809	4.238000	0.58688	0.906000	0.36621	0.460000	0.39030	AAG		TCGA-IB-7651-01A-11D-2154-08	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	0	0	0	16	425	0	98	1	9.985132e-01	12	273	0	98	2		0	0	0	0	0	2	1	9.999321e-01	16	422	0	98	2								-15.791400	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.450000	0.260000	1.000000	0.430000	0.508870	0.450000	0	3.400000e-01	6.300000e-01
UFD1L	7353	broad.mit.edu	37	22	19459280	19459280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19459280G>A	ENST00000263202.10	-	4	350	c.221C>T	c.(220-222)tCg>tTg	p.S74L	UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L|UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000484101.1_5'UTR	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)			4	Colorectal(54;0.0993)				CATGCGGTCCGAATTCTTATT	0.522000																								0							SO:0001583	missense			ENST00000263202.10	1	1	hg19	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986677	0.74589	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054;ENST00000474226	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.46157	1.445	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.17722	0.019;0.007;0.007	T	0.14254	-1.0479	10	0.33940	T	0.23	.	19.7254	0.96162	0.0:0.0:1.0:0.0	.	74;74;74	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	L	74;63;74;74;63;69;10	ENSP00000263202:S74L;ENSP00000354079:S63L;ENSP00000382439:S74L;ENSP00000406680:S63L;ENSP00000418390:S69L;ENSP00000418295:S10L	ENSP00000263202:S74L	S	-	2	0	UFD1L	17839280	1.000000	0.71417	0.945000	0.38365	0.970000	0.65996	9.476000	0.97823	2.732000	0.93576	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6	1	0	1	78	267	0	70	1	1	96	370	0	70	2		0	0	0	0	0	2	1	1	75	259	0	69	2								-4.192882	1	1	121412	3	34	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEPT5	5413	broad.mit.edu	37	22	19707735	19707735	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19707735C>T	ENST00000455784.2	+	5	461	c.336C>T	c.(334-336)ttC>ttT	p.F112F	SEPT5_ENST00000383045.3_Silent_p.F121F|SEPT5_ENST00000438754.2_Silent_p.F121F|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Silent_p.F112F	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5			2	Colorectal(54;0.0993)				CGCCGGGATTCGGGGACGCTG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000455784.2	1	1	hg19	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	C	3.617	-0.078448	0.07184	.	.	ENSG00000184702	ENST00000413258	.	.	.	3.89	-1.62	0.08372	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50939	-0.8768	4	.	.	.	.	9.162	0.37028	0.0:0.2228:0.0:0.7772	.	.	.	.	W	9	.	.	R	+	1	2	SEPT5	18087735	0.199000	0.23386	0.544000	0.28141	0.106000	0.19336	-0.505000	0.06367	-0.093000	0.12396	0.455000	0.32223	CGG		TCGA-IB-7651-01A-11D-2154-08	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	1	0	1	31	170	0	38	1	9.986236e-01	4	55	0	38	2		0	0	0	0	0	2	1	1	31	166	0	38	2								-3.343531	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
SEPT5	5413	broad.mit.edu	37	22	19708076	19708076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19708076C>T	ENST00000455784.2	+	7	627	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W|SEPT5_ENST00000438754.2_Missense_Mutation_p.R177W|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5			2	Colorectal(54;0.0993)				CGGCAGGCTGCGGCCAGTGGA	0.607000																								0							SO:0001583	missense			ENST00000455784.2	1	1	hg19	CCDS13764.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.99	2.102444	0.37145	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	2.97	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	H	0.95712	3.71	0.80722	D	1	P	0.43094	0.799	P	0.49332	0.607	T	0.72090	-0.4395	10	0.87932	D	0	.	7.2471	0.26127	0.4087:0.453:0.1383:0.0	.	168	Q99719	SEPT5_HUMAN	W	168;168;139;121;206;177;177;121	ENSP00000391311:R168W;ENSP00000384535:R168W;ENSP00000408678:R121W;ENSP00000414488:R206W;ENSP00000372515:R177W;ENSP00000394541:R177W;ENSP00000378541:R121W	ENSP00000372515:R177W	R	+	1	2	SEPT5	18088076	0.098000	0.21812	0.999000	0.59377	0.695000	0.40330	0.445000	0.21677	0.743000	0.32719	0.313000	0.20887	CGG		TCGA-IB-7651-01A-11D-2154-08	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	1	0	1	71	250	0	68	1	9.998594e-01	5	44	0	68	2		0	0	0	0	0	2	1	1	69	248	0	67	2								-4.014655	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEPT5	5413	broad.mit.edu	37	22	19709181	19709181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709181G>A	ENST00000455784.2	+	9	861	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I|SEPT5_ENST00000438754.2_Missense_Mutation_p.V255I|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5			2	Colorectal(54;0.0993)				GCCCTTCGCCGTTATAGGCAG	0.637000																								0							SO:0001583	missense			ENST00000455784.2	1	1	hg19	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248348	0.95305	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	3.92	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.58864	0.2152	L	0.58669	1.825	0.58432	D	0.999995	P	0.51147	0.942	P	0.60068	0.868	T	0.61476	-0.7055	10	0.62326	D	0.03	.	11.7634	0.51916	0.0873:0.0:0.9127:0.0	.	246	Q99719	SEPT5_HUMAN	I	246;246;199;284;255;255	ENSP00000391311:V246I;ENSP00000384535:V246I;ENSP00000408678:V199I;ENSP00000414488:V284I;ENSP00000372515:V255I;ENSP00000394541:V255I	ENSP00000372515:V255I	V	+	1	0	SEPT5	18089181	1.000000	0.71417	0.008000	0.14137	0.367000	0.29736	9.496000	0.97967	1.011000	0.39340	0.478000	0.44815	GTT		TCGA-IB-7651-01A-11D-2154-08	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	1	0	0	22	405	0	62	1	7.081752e-01	2	45	0	62	2		0	0	0	0	0	2	1	9.999985e-01	22	396	0	62	2								-5.307044	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.630000	0.400000	1.000000	0.600000	0.669087	0.630000	0	5.000000e-01	8.400000e-01
SEPT5	5413	broad.mit.edu	37	22	19709380	19709380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709380C>T	ENST00000455784.2	+	10	975	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C|SEPT5_ENST00000438754.2_Missense_Mutation_p.A289V|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5			2	Colorectal(54;0.0993)				CGTGAAGCTGCGCAACATGCT	0.642000																								0							SO:0001583	missense			ENST00000455784.2	1	1	hg19	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627026|4.627026	0.87560|0.87560	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000406395;ENST00000438754|ENST00000455784;ENST00000412544;ENST00000383045	T;T|T;T;T	0.51325|0.60299	0.71;0.71|0.2;0.2;0.2	3.82|3.82	0.147|0.147	0.14838|0.14838	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.81370|0.81370	0.4808|0.4808	H|H	0.96805|0.96805	3.885|3.885	0.23720|0.23720	N|N	0.997024|0.997024	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.74740|0.74740	-0.3563|-0.3563	7|10	0.54805|0.87932	T|D	0.06|0	.|.	12.3196|12.3196	0.54977|0.54977	0.5861:0.4139:0.0:0.0|0.5861:0.4139:0.0:0.0	.|.	.|284	.|Q99719	.|SEPT5_HUMAN	V|C	280;289|284;237;293	ENSP00000384535:A280V;ENSP00000394541:A289V|ENSP00000391311:R284C;ENSP00000408678:R237C;ENSP00000372515:R293C	ENSP00000384535:A280V|ENSP00000372515:R293C	A|R	+|+	2|1	0|0	SEPT5|SEPT5	18089380|18089380	0.999000|0.999000	0.42202|0.42202	0.780000|0.780000	0.31762|0.31762	0.991000|0.991000	0.79684|0.79684	0.891000|0.891000	0.28309|0.28309	0.026000|0.026000	0.15269|0.15269	0.478000|0.478000	0.44815|0.44815	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	1	0	1	79	284	0	62	1	9.997648e-01	2	45	0	62	2		0	0	0	0	0	2	1	1	76	280	0	62	2								-20.000000	1	1	121310	3	34	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C22orf29	79680	broad.mit.edu	37	22	19838878	19838878	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19838878G>T	ENST00000405640.1	-	2	1575	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|GNB1L_ENST00000460402.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29			7	Colorectal(54;0.0993)				GACTCCGACAGTCTAGGGACA	0.597000																								0							SO:0001583	missense			ENST00000405640.1	1	1	hg19	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456317	0.26161	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.26223	1.75;1.75;1.75	3.8	-1.02	0.10135	.	.	.	.	.	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	P	0.45681	0.49	T	0.11084	-1.0602	9	0.62326	D	0.03	.	1.3263	0.02126	0.2023:0.1685:0.4561:0.1731	.	303	Q7L3V2	CV029_HUMAN	M	303	ENSP00000386111:L303M;ENSP00000330596:L303M;ENSP00000384924:L303M	ENSP00000330596:L303M	L	-	1	2	C22orf29	18218878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.014000	0.12656	-0.058000	0.13177	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	1	0	1	51	219	0	53	1	9.872277e-01	8	24	0	53	2		0	0	0	0	0	2	1	1	51	212	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C22orf29	79680	broad.mit.edu	37	22	19839449	19839449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19839449C>T	ENST00000405640.1	-	2	1004	c.336G>A	c.(334-336)tgG>tgA	p.W112*	GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|GNB1L_ENST00000460402.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29			7	Colorectal(54;0.0993)				GGTCCAGTAGCCACGGGGAGC	0.622000																								0							SO:0001587	stop_gained			ENST00000405640.1	0	1	hg19	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193545	0.58017	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	.	.	.	3.35	-0.0897	0.13667	.	0.286677	0.17698	U	0.165025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.2451	0.06794	0.0:0.5045:0.2252:0.2703	.	.	.	.	X	112	.	ENSP00000330596:W112X	W	-	3	0	C22orf29	18219449	0.002000	0.14202	0.080000	0.20451	0.026000	0.11368	0.006000	0.13152	0.059000	0.16252	0.591000	0.81541	TGG		TCGA-IB-7651-01A-11D-2154-08	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	1	0	0	95	453	0	102	1	8.821477e-01	4	16	0	102	2		0	0	0	0	0	2	1	1	93	444	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNRD2	10587	broad.mit.edu	37	22	19868151	19868151	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19868151G>A	ENST00000400521.1	-	13	1182	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y	TXNRD2_ENST00000535882.1_Silent_p.Y391Y|TXNRD2_ENST00000400519.1_Silent_p.Y391Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y|TXNRD2_ENST00000400518.1_Silent_p.Y362Y	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2			30	Colorectal(54;0.0993)				TCACATTGTCGTAGTCCATCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000400521.1	1	1	hg19	CCDS42981.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	0	0	1	59	213	0	40	1	9.999996e-01	15	68	0	40	2		0	0	0	0	0	2	1	1	59	212	0	39	2								-20.000000	1	1	121102	2	34	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNRD2	10587	broad.mit.edu	37	22	19870891	19870891	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19870891G>A	ENST00000400521.1	-	12	1049	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	TXNRD2_ENST00000535882.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2			30	Colorectal(54;0.0993)				CACAGAGGTGGCTTCCCGGGA	0.627000																								0							SO:0001583	missense			ENST00000400521.1	1	1	hg19	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586106	0.28268	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.07	4.06	0.47325	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.538685	0.19402	N	0.115146	T	0.42877	0.1222	L	0.45422	1.42	0.80722	D	1	P;P	0.44090	0.826;0.826	B;B	0.37091	0.241;0.241	T	0.41431	-0.9509	10	0.56958	D	0.05	-20.6423	18.7819	0.91937	0.0:0.1189:0.881:0.0	.	348;347	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	V	318;348;348;325;252;347;347;318	ENSP00000383362:A318V;ENSP00000383365:A348V;ENSP00000383369:A325V;ENSP00000383363:A347V;ENSP00000439314:A347V;ENSP00000439570:A318V	ENSP00000383362:A318V	A	-	2	0	TXNRD2	18250891	1.000000	0.71417	0.637000	0.29366	0.091000	0.18340	3.776000	0.55356	0.652000	0.30806	-1.255000	0.01485	GCC		TCGA-IB-7651-01A-11D-2154-08	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	0	0	1	134	490	0	135	1	9.999999e-01	21	63	0	135	2		0	0	0	0	0	2	1	1	132	483	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXNRD2	10587	broad.mit.edu	37	22	19882713	19882713	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19882713G>T	ENST00000334363.9	-	12	960	c.960C>A	c.(958-960)atC>atA	p.I320I	TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000400518.1_Intron	NM_001282512.1	NP_001269441.1	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2			30	Colorectal(54;0.0993)				GACACGCAGAGATGCAAGGTG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000334363.9	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TXNRD2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	38	205	0	48	0	6.853286e-02	0	3	0	48	2		0	0	0	0	0	2	1	1	38	199	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ARVCF	421	broad.mit.edu	37	22	19963242	19963242	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19963242G>T	ENST00000263207.3	-	11	2218	c.1927C>A	c.(1927-1929)Cta>Ata	p.L643I	ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome			13	Colorectal(54;0.0993)				GGCAGGTCTAGCGTGTCAAAG	0.577000																								0							SO:0001583	missense			ENST00000263207.3	1	1	hg19	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878517	0.17395	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	4.74	1.44	0.22558	Armadillo-type fold (1);	0.152006	0.43747	D	0.000521	T	0.52008	0.1708	N	0.24115	0.695	0.48087	D	0.999584	B;P	0.38551	0.119;0.636	B;B	0.31245	0.109;0.126	T	0.38436	-0.9661	9	.	.	.	-11.7534	8.7502	0.34611	0.2567:0.0:0.7433:0.0	.	643;159	O00192;E7EV58	ARVC_HUMAN;.	I	643;580;580;574;637	ENSP00000263207:L643I;ENSP00000342042:L580I;ENSP00000384341:L580I;ENSP00000384732:L574I;ENSP00000385444:L637I	.	L	-	1	2	ARVCF	18343242	0.925000	0.31364	0.988000	0.46212	0.963000	0.63663	1.335000	0.33839	0.305000	0.22832	0.563000	0.77884	CTA		TCGA-IB-7651-01A-11D-2154-08	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	1	0	1	46	207	0	76	1	9.945912e-01	5	34	0	76	2		0	0	0	0	0	2	1	1	46	203	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARVCF	421	broad.mit.edu	37	22	19965028	19965028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19965028C>A	ENST00000263207.3	-	9	2071	c.1780G>T	c.(1780-1782)Gag>Tag	p.E594*	ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome			13	Colorectal(54;0.0993)				GGCTCGGCCTCCTGGTACCTG	0.667000																								0							SO:0001587	stop_gained			ENST00000263207.3	0	1	hg19	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	40	8.382237	0.98786	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.05	1.9	0.25705	.	0.159506	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.541	8.6051	0.33769	0.1523:0.7647:0.0:0.083	.	.	.	.	X	594;531;531;531;594	.	.	E	-	1	0	ARVCF	18345028	1.000000	0.71417	0.999000	0.59377	0.600000	0.36913	5.825000	0.69286	0.638000	0.30545	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	0	0	0	75	509	1	103	0	6.915431e-01	0	27	1	103	3		0	0	0	0	0	2	1	1	75	502	1	101	19								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ARVCF	421	broad.mit.edu	37	22	19969241	19969241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19969241G>A	ENST00000263207.3	-	5	680	c.389C>T	c.(388-390)aCg>aTg	p.T130M	ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome			13	Colorectal(54;0.0993)				AGTGGTCACCGTCTTGACAGT	0.612000																								0							SO:0001583	missense			ENST00000263207.3	1	1	hg19	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318548	0.81469	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	P	0.54210	0.745	T	0.47548	-0.9109	9	.	.	.	-17.9505	16.9177	0.86155	0.0:0.0:1.0:0.0	.	130	O00192	ARVC_HUMAN	M	130;67;67;67;130	ENSP00000263207:T130M;ENSP00000342042:T67M;ENSP00000384341:T67M;ENSP00000384732:T67M;ENSP00000385444:T130M	.	T	-	2	0	ARVCF	18349241	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	9.227000	0.95236	2.278000	0.76064	0.551000	0.68910	ACG		TCGA-IB-7651-01A-11D-2154-08	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	1	0	1	77	302	0	62	1	7.725398e-01	2	11	0	62	2		0	0	0	0	0	2	1	1	76	291	0	61	2								-20.000000	1	1	120862	3	33	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGCR8	54487	broad.mit.edu	37	22	20073696	20073696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20073696C>T	ENST00000351989.3	+	2	639	c.210C>T	c.(208-210)taC>taT	p.Y70Y	MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Silent_p.Y70Y|DGCR8_ENST00000383024.2_Silent_p.Y70Y|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit			22	Colorectal(54;0.0993)				TCAACTTCTACGGAGCTTCTC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000351989.3	1	1	hg19	CCDS13773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	1	0	1	105	433	0	89	0	9.609011e-01	0	24	0	89	2		0	0	0	0	0	2	1	1	104	427	0	89	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGCR8	54487	broad.mit.edu	37	22	20074812	20074812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20074812C>T	ENST00000351989.3	+	3	1277	c.848C>T	c.(847-849)cCg>cTg	p.P283L	MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L|DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit			22	Colorectal(54;0.0993)				AGTGTGCAGCCGATGATGACC	0.527000																								0							SO:0001583	missense			ENST00000351989.3	1	1	hg19	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604141	0.96626	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.54071	0.73;0.59;0.59	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.57009	0.811;0.652	T	0.71130	-0.4682	10	0.87932	D	0	-6.7014	20.1743	0.98175	0.0:1.0:0.0:0.0	.	283;283	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	283	ENSP00000263209:P283L;ENSP00000372488:P283L;ENSP00000384726:P283L	ENSP00000263209:P283L	P	+	2	0	DGCR8	18454812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.873000	0.98535	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	1	0	1	51	249	0	70	1	9.930172e-01	7	33	0	70	2		0	0	0	0	0	2	1	1	51	245	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGCR8	54487	broad.mit.edu	37	22	20094192	20094192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20094192C>T	ENST00000351989.3	+	11	2396	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit			22	Colorectal(54;0.0993)				TACGTCATGGCGTGTGGCAAG	0.567000																								0							SO:0001583	missense			ENST00000351989.3	1	1	hg19	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695684	0.88830	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.75821	-0.97;-0.97;-0.97	5.55	5.55	0.83447	Double-stranded RNA-binding (2);	0.048412	0.85682	D	0.000000	T	0.56366	0.1980	N	0.08118	0	0.52501	D	0.999953	B;P	0.37663	0.44;0.604	B;B	0.31101	0.124;0.052	T	0.65105	-0.6249	10	0.66056	D	0.02	-14.3867	18.2506	0.90002	0.0:1.0:0.0:0.0	.	623;656	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	656;623;623	ENSP00000263209:A656V;ENSP00000372488:A623V;ENSP00000384726:A623V	ENSP00000263209:A656V	A	+	2	0	DGCR8	18474192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.208000	0.77907	2.592000	0.87571	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	1	0	1	42	283	0	85	0	9.099044e-01	1	29	0	85	2		0	0	0	0	0	2	1	1	41	279	0	85	2								-3.075971	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999869	0.990000	1	9.900000e-01	1
RANBP1	5902	broad.mit.edu	37	22	20112936	20112936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20112936C>T	ENST00000331821.3	+	4	518	c.416C>T	c.(415-417)gCc>gTc	p.A139V	SNORA77_ENST00000578179.1_RNA|RANBP1_ENST00000402752.1_Missense_Mutation_p.A139V|RANBP1_ENST00000430524.1_Missense_Mutation_p.A49V	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1			4	Colorectal(54;0.0993)				GAGCTGCTGGCCATCCGCTTC	0.632000																								0							SO:0001583	missense			ENST00000331821.3	0	1	hg19	CCDS13775.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727931	0.96856	.	.	ENSG00000099901	ENST00000430524;ENST00000402752;ENST00000447917;ENST00000331821;ENST00000411892;ENST00000423859;ENST00000418705;ENST00000448394	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.5	5.5	0.81552	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.78628	-0.2130	10	0.66056	D	0.02	-26.6123	19.3923	0.94587	0.0:1.0:0.0:0.0	.	139;139;139	B4DE76;Q53EY3;P43487	.;.;RANG_HUMAN	V	49;139;126;139;139;89;89;66	ENSP00000401564:A49V;ENSP00000384925:A139V;ENSP00000327583:A139V;ENSP00000395472:A139V;ENSP00000404298:A89V;ENSP00000413502:A89V;ENSP00000398300:A66V	ENSP00000327583:A139V	A	+	2	0	RANBP1	18492936	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.629000	0.83207	2.588000	0.87417	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	0	0	0	18	60	0	18	1	1	112	326	0	18	2		0	0	0	0	0	2	1	9.999916e-01	17	60	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
ZDHHC8	29801	broad.mit.edu	37	22	20130691	20130691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20130691C>T	ENST00000334554.7	+	10	1679	c.1538C>T	c.(1537-1539)gCa>gTa	p.A513V	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8			20	Colorectal(54;0.0993)				CATCCTGGGGCAACGGGCGAC	0.721000																								0							SO:0001583	missense			ENST00000334554.7	1	1	hg19	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	9.033	0.987662	0.18966	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.72282	1.37;-0.64;1.34	4.79	-1.64	0.08318	.	2.240760	0.01898	N	0.039000	T	0.55210	0.1906	L	0.29908	0.895	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.002;0.008;0.001	T	0.25882	-1.0119	10	0.17832	T	0.49	.	4.9567	0.14044	0.0:0.233:0.1772:0.5898	.	421;513;513	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	V	513;421;513	ENSP00000334490:A513V;ENSP00000317804:A421V;ENSP00000384716:A513V	ENSP00000317804:A421V	A	+	2	0	ZDHHC8	18510691	0.000000	0.05858	0.025000	0.17156	0.312000	0.27988	-0.092000	0.11129	0.120000	0.18254	0.491000	0.48974	GCA		TCGA-IB-7651-01A-11D-2154-08	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	1	0	0	79	351	0	59	1	9.962010e-01	15	25	0	59	2		0	0	0	0	0	2	1	1	75	345	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTN4R	65078	broad.mit.edu	37	22	20230563	20230563	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20230563G>A	ENST00000043402.7	-	2	531	c.93C>T	c.(91-93)tgC>tgT	p.C31C	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor			3	Colorectal(54;0.0993)				TGTAGCATACGCAGGCACCTG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000043402.7	1	1	hg19	CCDS13777.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774633	0.02951	.	.	ENSG00000040608	ENST00000416372;ENST00000425986	.	.	.	4.65	-9.3	0.00649	.	.	.	.	.	T	0.60625	0.2283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70382	-0.4887	4	.	.	.	.	15.0807	0.72113	0.6639:0.0:0.3361:0.0	.	.	.	.	V	51;117	.	.	A	-	2	0	RTN4R	18610563	0.000000	0.05858	0.378000	0.26068	0.161000	0.22273	-4.388000	0.00242	-2.350000	0.00617	-2.488000	0.00195	GCG		TCGA-IB-7651-01A-11D-2154-08	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2	1	0	1	52	202	0	40	1	9.973377e-01	16	22	0	40	2		0	0	0	0	0	2	1	1	51	200	0	38	2								-20.000000	1	1	120772	5	34	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIMBP3	85376	broad.mit.edu	37	22	20458364	20458364	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20458364C>A	ENST00000426804.1	-	1	3422	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3			13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		CTGGAGAGGCCCTGCTTCCCC	0.587000																								0							SO:0001583	missense			ENST00000426804.1	0	1	hg19	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424295	0.43020	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.31769	1.48	3.32	1.14	0.20703	.	1.026650	0.07715	N	0.942781	T	0.47229	0.1434	M	0.62723	1.935	0.26803	N	0.96916	D	0.89917	1.0	D	0.75020	0.985	T	0.26815	-1.0092	10	0.87932	D	0	-7.5139	3.5877	0.07977	0.0:0.5385:0.2174:0.2441	.	886	Q9UFD9	RIM3A_HUMAN	C	886;980	ENSP00000391564:G980C	ENSP00000347318:G886C	G	-	1	0	RIMBP3	18838364	0.678000	0.27586	0.003000	0.11579	0.022000	0.10575	4.016000	0.57159	0.223000	0.20920	0.398000	0.26397	GGC		TCGA-IB-7651-01A-11D-2154-08	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	0	0	0	11	111	0	32	0	1.006452e-02	0	2	0	32	2		0	0	0	0	0	2		0	0	0	0	0	2								-17.170430	1	0	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.590000	1.000000	1.000000	0.937437	0.990000	1	8.200000e-01	1
RIMBP3	85376	broad.mit.edu	37	22	20459530	20459530	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20459530G>A	ENST00000426804.1	-	1	2256	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3			13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		CGCCGGGGCCGCCTGCGCGCC	0.746000																								0							SO:0001583	missense			ENST00000426804.1	0	1	hg19	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810155	0.16537	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.14893	2.47	2.69	1.65	0.23941	.	0.207420	0.31673	N	0.007255	T	0.10465	0.0256	L	0.34521	1.04	0.22811	N	0.998706	B	0.14805	0.011	B	0.12156	0.007	T	0.19943	-1.0290	10	0.33940	T	0.23	-5.7485	4.7487	0.13050	0.3027:0.0:0.6973:0.0	.	497	Q9UFD9	RIM3A_HUMAN	V	497;591	ENSP00000391564:A591V	ENSP00000347318:A497V	A	-	2	0	RIMBP3	18839530	0.300000	0.24435	0.269000	0.24586	0.131000	0.20780	0.557000	0.23454	0.691000	0.31592	0.184000	0.17185	GCG		TCGA-IB-7651-01A-11D-2154-08	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	0	0	0	8	62	0	6		0	0	0	0	6	2		0	0	0	0	0	2	1	9.896262e-01	8	60	0	8	2								-18.089990	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.670000	1.000000	1.000000	0.970640	0.990000	1	9.800000e-01	1
KLHL22	84861	broad.mit.edu	37	22	20800760	20800760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20800760G>A	ENST00000328879.4	-	6	1665	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	KLHL22_ENST00000440659.2_Silent_p.N360N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22			20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		ATCCGGCATCGTTGTTGCTGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000328879.4	0	1	hg19	CCDS13780.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	0	0	0	29	152	0	37	1	9.999189e-01	22	59	0	37	2		0	0	0	0	0	2	1	1	28	152	0	37	2								-20.000000	1	1	121408	4	36	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
KLHL22	84861	broad.mit.edu	37	22	20819860	20819860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20819860G>A	ENST00000328879.4	-	4	553	c.397C>T	c.(397-399)Cca>Tca	p.P133S	KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22			20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		ATAATTTCTGGGATCTGCAGA	0.522000																								0							SO:0001583	missense			ENST00000328879.4	1	1	hg19	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	5.913	0.352446	0.11182	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.43	5.43	0.79202	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.228496	0.47093	D	0.000260	T	0.43700	0.1259	N	0.13352	0.335	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.37150	-0.9718	10	0.06494	T	0.89	.	10.2156	0.43166	0.0903:0.0:0.9097:0.0	.	133	Q53GT1	KLH22_HUMAN	S	133;56;165;133;167	ENSP00000331682:P133S;ENSP00000400095:P56S;ENSP00000403999:P165S;ENSP00000398616:P133S;ENSP00000397882:P167S	ENSP00000331682:P133S	P	-	1	0	KLHL22	19149860	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.144000	0.58057	2.555000	0.86185	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	0	0	0	58	253	1	76	1	9.818671e-01	7	41	1	76	4		0	0	0	0	0	2	1	1	58	249	1	75	15								-3.226900	1	0	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL22	84861	broad.mit.edu	37	22	20843290	20843290	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20843290G>A	ENST00000328879.4	-	2	365	c.209C>T	c.(208-210)gCg>gTg	p.A70V	KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22			20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		ATCGCAGGACGCAGCCAGCAG	0.552000																								0							SO:0001583	missense			ENST00000328879.4	1	1	hg19	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.041455	0.55003	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89986	0.4104	10	0.87932	D	0	.	16.1034	0.81203	0.0:0.0:1.0:0.0	.	70	Q53GT1	KLH22_HUMAN	V	70;102;70;104;70;102	ENSP00000331682:A70V;ENSP00000403999:A102V;ENSP00000398616:A70V;ENSP00000397882:A104V;ENSP00000409092:A70V;ENSP00000402746:A102V	ENSP00000331682:A70V	A	-	2	0	KLHL22	19173290	1.000000	0.71417	0.636000	0.29352	0.029000	0.11900	9.123000	0.94387	2.406000	0.81754	0.550000	0.68814	GCG		TCGA-IB-7651-01A-11D-2154-08	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	1	0	1	24	174	0	35	1	9.971408e-01	18	52	0	35	2		0	0	0	0	0	2	1	9.999998e-01	24	171	0	35	2								-3.319737	1	0	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.970000	1.000000	1.000000	0.997352	0.990000	1	9.900000e-01	1
MED15	51586	broad.mit.edu	37	22	20921060	20921060	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20921060G>T	ENST00000263205.7	+	7	1066	c.997G>T	c.(997-999)Gct>Tct	p.A333S	MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000542773.1_Missense_Mutation_p.A138S|MED15_ENST00000406969.1_Missense_Mutation_p.A307S|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000541476.1_Missense_Mutation_p.A307S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15			25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		ACAGGCGCAAGCTCTCCCTGG	0.582000																								0							SO:0001583	missense			ENST00000263205.7	1	1	hg19	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146195	0.21288	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	T	0.44482	0.92	5.13	1.87	0.25490	Mediator complex, subunit Med15, metazoa (1);	0.675615	0.14883	N	0.292854	T	0.30479	0.0766	L	0.49350	1.555	0.38124	D	0.937955	B;B;B;B;B;B	0.23442	0.005;0.005;0.004;0.004;0.085;0.069	B;B;B;B;B;B	0.24974	0.038;0.038;0.022;0.022;0.057;0.055	T	0.08576	-1.0715	10	0.12430	T	0.62	.	5.0251	0.14381	0.2548:0.155:0.5902:0.0	.	279;352;307;333;333;262	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;.;MED15_HUMAN;.	S	222;333;138;333;307;262;307;279	ENSP00000263205:A333S	ENSP00000263205:A333S	A	+	1	0	MED15	19251060	0.790000	0.28787	0.992000	0.48379	0.121000	0.20230	2.198000	0.42705	0.390000	0.25115	-0.136000	0.14681	GCT		TCGA-IB-7651-01A-11D-2154-08	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	1	0	1	145	696	0	148	1	1	57	192	0	148	2		0	0	0	0	0	2	1	1	136	654	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED15	51586	broad.mit.edu	37	22	20937634	20937634	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20937634A>C	ENST00000263205.7	+	13	1759	c.1690A>C	c.(1690-1692)Agt>Cgt	p.S564R	MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.S498R|MED15_ENST00000292733.7_Missense_Mutation_p.S524R|MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15			25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		AAAGGACCTGAGTAAGATGAA	0.592000																								0							SO:0001583	missense			ENST00000263205.7	1	1	hg19	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871776	0.91587	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.7	5.7	0.88788	Mediator complex, subunit Med15, metazoa (1);	0.121832	0.85682	N	0.000000	T	0.77805	0.4185	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.996;0.951;0.994;0.989;0.999	T	0.80374	-0.1409	9	0.87932	D	0	.	13.922	0.63937	1.0:0.0:0.0:0.0	.	494;543;180;498;524;564	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	R	413;524;564;498;453;498;494	.	ENSP00000263205:S564R	S	+	1	0	MED15	19267634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.883000	0.92426	2.189000	0.69895	0.459000	0.35465	AGT		TCGA-IB-7651-01A-11D-2154-08	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	1	0	0	31	739	0	160	1	9.993798e-01	23	243	0	160	2		0	0	0	0	0	2	1	1	31	728	0	159	2								-4.677371	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.490000	0.330000	1.000000	0.470000	0.543262	0.490000	0	4.000000e-01	6.300000e-01
PI4KA	5297	broad.mit.edu	37	22	21087302	21087302	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21087302G>T	ENST00000572273.1	-	36	4301	c.4071C>A	c.(4069-4071)ttC>ttA	p.F1357L	PI4KA_ENST00000255882.6_Missense_Mutation_p.F1415L|PI4KA_ENST00000414196.3_Missense_Mutation_p.F167L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha			79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		TCTTATCTGAGAACATGGCGG	0.527000													GBM(136;1332 1831 3115 23601 50806)											0							SO:0001583	missense			ENST00000572273.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.96	2.987345	0.53934	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.75938	-0.98	5.55	5.55	0.83447	.	0.163311	0.56097	D	0.000036	T	0.47284	0.1437	N	0.01219	-0.95	0.51482	D	0.999922	B	0.02656	0.0	B	0.04013	0.001	T	0.48768	-0.9006	10	0.37606	T	0.19	-32.5835	12.8034	0.57598	0.075:0.0:0.925:0.0	.	1357	P42356	PI4KA_HUMAN	L	1357;167	ENSP00000402981:F167L	ENSP00000255882:F1357L	F	-	3	2	PI4KA	19417302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.376000	0.44292	2.606000	0.88127	0.557000	0.71058	TTC		TCGA-IB-7651-01A-11D-2154-08	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	46	264	0	64	1	9.998129e-01	11	65	0	64	2		0	0	0	0	0	2	1	1	26	157	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PI4KA	5297	broad.mit.edu	37	22	21105625	21105625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21105625C>T	ENST00000572273.1	-	27	3165	c.2935G>A	c.(2935-2937)Gcc>Acc	p.A979T	PI4KA_ENST00000255882.6_Missense_Mutation_p.A1037T|PI4KA_ENST00000466162.1_5'Flank			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha			79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		CGGTAGGGGGCGTCGGGGATG	0.552000													GBM(136;1332 1831 3115 23601 50806)											0							SO:0001583	missense			ENST00000572273.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.450	1.090231	0.20390	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.43	4.36	0.52297	.	0.213702	0.49916	D	0.000136	T	0.11196	0.0273	N	0.00088	-2.19	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45687	-0.9244	9	0.02654	T	1	-15.003	14.7651	0.69632	0.0:0.9208:0.0:0.0792	.	979	P42356	PI4KA_HUMAN	T	979	.	ENSP00000255882:A979T	A	-	1	0	PI4KA	19435625	0.998000	0.40836	0.644000	0.29465	0.917000	0.54804	3.456000	0.53000	2.825000	0.97269	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	33	196	0	63	1	9.999778e-01	21	82	0	63	2		0	0	0	0	0	2	1	1	32	193	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
SERPIND1	3053	broad.mit.edu	37	22	21134137	21134137	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21134137G>A	ENST00000215727.5	+	2	820	c.537G>A	c.(535-537)tcG>tcA	p.S179S	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.S179S	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1			13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)	Ardeparin(DB00407)|Sulodexide(DB06271)	AAGTGCACTCGATTTTGCATT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000215727.5	1	1	hg19	CCDS13783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	1	0	1	87	352	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	87	351	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPIND1	3053	broad.mit.edu	37	22	21141285	21141285	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21141285C>T	ENST00000215727.5	+	5	1714	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.F477F	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1			13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)	Ardeparin(DB00407)|Sulodexide(DB06271)	CCTTTCTTTTCCTCATCTACG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000215727.5	1	1	hg19	CCDS13783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	1	0	1	84	384	0	72	0	8.689168e-02	0	3	0	72	2		0	0	0	0	0	2	1	1	84	380	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PI4KA	5297	broad.mit.edu	37	22	21150489	21150489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21150489C>T	ENST00000572273.1	-	18	2278	c.2048G>A	c.(2047-2049)gGg>gAg	p.G683E	PI4KA_ENST00000255882.6_Missense_Mutation_p.G741E|PI4KA_ENST00000466162.1_5'Flank			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha			79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		CCCCTCCAGCCCCAGCTGCAC	0.587000													GBM(136;1332 1831 3115 23601 50806)											0							SO:0001583	missense			ENST00000572273.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	31	5.073799	0.94000	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83935	0.0308	9	0.87932	D	0	-24.2467	17.6482	0.88154	0.0:1.0:0.0:0.0	.	683	P42356	PI4KA_HUMAN	E	683	.	ENSP00000255882:G683E	G	-	2	0	PI4KA	19480489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.597000	0.82733	2.402000	0.81655	0.591000	0.81541	GGG		TCGA-IB-7651-01A-11D-2154-08	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	23	158	0	35	1	9.999185e-01	19	89	0	35	2		0	0	0	0	0	2	1	9.999995e-01	22	155	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.998229	0.990000	1	9.900000e-01	1
SNAP29	9342	broad.mit.edu	37	22	21224631	21224631	+	Missense_Mutation	SNP	G	G	A	rs146502130	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224631G>A	ENST00000215730.7	+	2	372	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa			9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		CCAGGAGCTCGCCCGTCAGCG	0.532000																								0							SO:0001583	missense			ENST00000215730.7	1	1	hg19	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651895	0.29336	2.27E-4	1.16E-4	ENSG00000099940	ENST00000215730	T	0.76839	-1.05	5.58	3.37	0.38596	Target SNARE coiled-coil domain (1);	0.328618	0.32120	N	0.006545	T	0.60625	0.2283	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.41016	-0.9532	10	0.18276	T	0.48	-14.9797	7.7116	0.28682	0.191:0.1277:0.6814:0.0	.	82	O95721	SNP29_HUMAN	T	82	ENSP00000215730:A82T	ENSP00000215730:A82T	A	+	1	0	SNAP29	19554631	0.017000	0.18338	0.282000	0.24776	0.226000	0.24999	0.542000	0.23222	1.357000	0.45904	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	1	0	1	71	307	0	89	1	9.999930e-01	31	46	0	89	2		0	0	0	0	0	2	1	1	68	297	0	88	2								-20.000000	1	0	121412	6	36	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNAP29	9342	broad.mit.edu	37	22	21224637	21224637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224637C>T	ENST00000215730.7	+	2	378	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa			9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		GCTCGCCCGTCAGCGAGGAGT	0.532000																								0							SO:0001587	stop_gained			ENST00000215730.7	0	1	hg19	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344017	0.95807	.	.	ENSG00000099940	ENST00000215730	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.9277	19.5775	0.95450	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000215730:Q84X	Q	+	1	0	SNAP29	19554637	1.000000	0.71417	0.993000	0.49108	0.662000	0.39071	7.747000	0.85070	2.625000	0.88918	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	1	0	0	58	345	0	97	1	9.999745e-01	5	89	0	97	2		0	0	0	0	0	2	1	1	55	334	0	96	2								-20.000000	1	0	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SNAP29	9342	broad.mit.edu	37	22	21242053	21242053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21242053C>T	ENST00000215730.7	+	5	834	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	AC007308.7_ENST00000608856.1_RNA	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa			9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		CATTCTTGACCGGCTGACAAC	0.468000																								0							SO:0001583	missense			ENST00000215730.7	1	1	hg19	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985515	0.93044	.	.	ENSG00000099940	ENST00000215730;ENST00000439214	.	.	.	5.99	5.99	0.97316	Target SNARE coiled-coil domain (3);	0.175838	0.51477	D	0.000086	D	0.84795	0.5551	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	D	0.86213	0.1626	9	0.87932	D	0	-10.08	20.0728	0.97731	0.0:1.0:0.0:0.0	.	236	O95721	SNP29_HUMAN	W	236;143	.	ENSP00000215730:R236W	R	+	1	2	SNAP29	19572053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.542000	0.45744	2.840000	0.97914	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	1	0	1	76	343	0	94	1	1	51	108	0	94	2		0	0	0	0	0	2	1	1	73	340	0	93	2								-2.427582	0	1	121412	3	37	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AIFM3	150209	broad.mit.edu	37	22	21330996	21330996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21330996C>T	ENST00000399167.2	+	12	1327	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	AIFM3_ENST00000399163.2_Silent_p.L363L|AIFM3_ENST00000405089.1_Silent_p.L369L|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.L363L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3			21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		TGTGGTGGAGCTGGAGGAGAC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000399167.2	1	1	hg19	CCDS13786.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	1	0	1	17	84	0	20	0	3.522435e-01	1	6	0	20	2		0	0	0	0	0	2	1	9.999740e-01	17	81	0	20	2								-20.000000	1	1	121310	8	33	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999660	0.990000	1	9.900000e-01	1
AIFM3	150209	broad.mit.edu	37	22	21335305	21335305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21335305G>A	ENST00000399167.2	+	21	2043	c.1803G>A	c.(1801-1803)acG>acA	p.T601T	XXbac-B135H6.18_ENST00000610278.1_lincRNA|AIFM3_ENST00000399163.2_Silent_p.T594T|LZTR1_ENST00000389355.3_5'Flank|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000405089.1_Silent_p.T600T|AIFM3_ENST00000335375.5_Silent_p.T582T|LZTR1_ENST00000479606.1_Intron|AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.T594T	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3			21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		CCTGGCTTACGGGGAAAGGAT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000399167.2	1	1	hg19	CCDS13786.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	1	0	1	37	130	0	34	1	8.155579e-01	4	9	0	34	2		0	0	0	0	0	2	1	1	35	128	0	34	2								-3.726589	1	1	121412	4	35	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LZTR1	8216	broad.mit.edu	37	22	21345925	21345925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21345925G>A	ENST00000215739.8	+	9	1159	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	p.R267H(2)		42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		AGGTGGACACGCATCCCAACT	0.652000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000215739.8	0	1	hg19	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136480	0.94517	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67698	-0.28;-0.28	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.053822	0.85682	D	0.000000	T	0.81230	0.4779	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.74023	0.957;0.982;0.947;0.904	D	0.83501	0.0075	10	0.72032	D	0.01	-35.8024	16.1666	0.81759	0.0:0.0:1.0:0.0	.	248;226;267;226	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	226;267;248	ENSP00000215739:R267H;ENSP00000374006:R248H	ENSP00000215739:R267H	R	+	2	0	LZTR1	19675925	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.621000	0.83083	2.409000	0.81822	0.407000	0.27541	CGC		TCGA-IB-7651-01A-11D-2154-08	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	1	0	1	8	61	0	12	1	9.972517e-01	22	68	0	12	2		0	0	0	0	0	2	1	9.889690e-01	8	58	0	12	2								-14.562790	1	1	120970	2	17	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.680000	1.000000	1.000000	0.972358	0.990000	1	9.900000e-01	1
THAP7	80764	broad.mit.edu	37	22	21354375	21354375	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21354375G>A	ENST00000215742.4	-	4	898	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	THAP7-AS1_ENST00000436079.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R242W|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7			8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		TCGGCTCGCCGCTTCCAGAGT	0.657000																								0							SO:0001583	missense			ENST00000215742.4	1	1	hg19	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679638	0.68042	4.55E-4	0.0	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.97665	-4.48;-4.48	4.25	-3.45	0.04781	.	0.370399	0.21680	N	0.070723	D	0.94551	0.8245	N	0.14661	0.345	0.42120	D	0.991422	D	0.89917	1.0	D	0.65874	0.939	D	0.90812	0.4702	10	0.87932	D	0	-18.4205	8.6921	0.34273	0.0888:0.0:0.2028:0.7084	.	242	Q9BT49	THAP7_HUMAN	W	242	ENSP00000215742:R242W;ENSP00000382084:R242W	ENSP00000215742:R242W	R	-	1	2	THAP7	19684375	0.948000	0.32251	0.993000	0.49108	0.890000	0.51754	0.147000	0.16202	-0.229000	0.09854	-0.181000	0.13052	CGG		TCGA-IB-7651-01A-11D-2154-08	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	1	0	1	35	133	0	38	1	1	37	85	0	38	2		0	0	0	0	0	2	1	1	34	132	0	38	2								-20.000000	1	1	121268	6	34	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RX6	9127	broad.mit.edu	37	22	21380774	21380774	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21380774A>G	ENST00000413302.2	+	12	1342	c.1194A>G	c.(1192-1194)cgA>cgG	p.R398R	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000401443.1_Silent_p.R372R|P2RX6_ENST00000443995.3_Silent_p.R345R			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6								CCCAAGCCCGACTGGCCGAGT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000413302.2	0	1	hg19	CCDS13788.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	1	0	1	10	38	0	12	1	5.176471e-02	2	0	0	12	2		0	0	0	0	0	2	1	9.976601e-01	10	37	0	12	2								-19.893150	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.998980	0.990000	1	9.900000e-01	1
SLC7A4	6545	broad.mit.edu	37	22	21385522	21385522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21385522G>T	ENST00000382932.2	-	2	647	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4			18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTGATTGAGCCAGGAGGAC	0.612000																								0							SO:0001583	missense			ENST00000382932.2	1	1	hg19	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230520	0.39399	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89552	-2.53;-2.53	5.28	1.93	0.25924	Amino acid permease domain (1);	0.204067	0.43110	D	0.000606	D	0.84543	0.5495	L	0.49455	1.56	0.42349	D	0.992363	B	0.25609	0.13	B	0.32211	0.142	T	0.76315	-0.3004	10	0.33940	T	0.23	.	9.0405	0.36314	0.0785:0.279:0.6425:0.0	.	194	O43246	CTR4_HUMAN	I	194	ENSP00000384278:L194I;ENSP00000372390:L194I	ENSP00000372390:L194I	L	-	1	0	SLC7A4	19715522	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.135000	0.64777	0.288000	0.22398	-0.258000	0.10820	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	1	0	1	59	237	0	37	1	8.291220e-01	9	6	0	37	2		0	0	0	0	0	2	1	1	58	233	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIC2	23119	broad.mit.edu	37	22	21800714	21800714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800714C>T	ENST00000443632.2	+	2	1902	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	HIC2_ENST00000407598.2_Silent_p.C510C|HIC2_ENST00000407464.2_Silent_p.C510C			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2			16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)			GTTCGGTCTGCGAGAAGACCT	0.642000													NSCLC(23;437 858 2282 27947 40366)											0							SO:0001819	synonymous_variant			ENST00000443632.2	1	1	hg19	CCDS13789.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2	1	0	1	61	345	0	78	0	2.891938e-01	1	6	0	78	2		0	0	0	0	0	2	1	1	61	338	0	74	2								-3.321220	1	1	121398	2	32	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIC2	23119	broad.mit.edu	37	22	21800868	21800868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800868G>A	ENST00000443632.2	+	2	2056	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	HIC2_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_Missense_Mutation_p.A562T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2			16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)			GAAGCCCTTCGCCTGCGATGA	0.632000													NSCLC(23;437 858 2282 27947 40366)											0							SO:0001583	missense			ENST00000443632.2	1	1	hg19	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370930	0.82573	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.14893	2.47;2.47;2.47	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	N	0.16266	0.395	0.58432	D	0.999991	D	0.89917	1.0	D	0.76071	0.987	T	0.04373	-1.0956	10	0.34782	T	0.22	.	15.4344	0.75133	0.0:0.0:1.0:0.0	.	562	Q96JB3	HIC2_HUMAN	T	562	ENSP00000385319:A562T;ENSP00000384889:A562T;ENSP00000387757:A562T	ENSP00000385319:A562T	A	+	1	0	HIC2	20130868	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.545000	0.82128	2.503000	0.84419	0.558000	0.71614	GCC		TCGA-IB-7651-01A-11D-2154-08	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2	1	0	1	32	287	0	57	0	3.143824e-01	1	10	0	57	2		0	0	0	0	0	2	1	1	32	284	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.840000	1.000000	1.000000	0.988405	0.990000	1	9.900000e-01	1
CCDC116	164592	broad.mit.edu	37	22	21988516	21988516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21988516C>T	ENST00000292779.3	+	3	439	c.278C>T	c.(277-279)gCg>gTg	p.A93V	CCDC116_ENST00000607942.1_Missense_Mutation_p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	p.A93V(1)		22	Colorectal(54;0.105)				GTGGAGAAGGCGACTGAGCGC	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000292779.3	1	1	hg19	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839446	0.71488	.	.	ENSG00000161180	ENST00000292779	T	0.21932	1.98	4.55	4.55	0.56014	.	0.276192	0.25783	N	0.028334	T	0.37489	0.1005	L	0.47190	1.495	0.20563	N	0.999887	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06588	-1.0818	9	.	.	.	-82.0264	12.9811	0.58564	0.0:1.0:0.0:0.0	.	93;93	B7Z7H5;Q8IYX3-2	.;.	V	93	ENSP00000292779:A93V	.	A	+	2	0	CCDC116	20318516	0.954000	0.32549	0.325000	0.25375	0.617000	0.37484	3.713000	0.54882	2.521000	0.84997	0.585000	0.79938	GCG		TCGA-IB-7651-01A-11D-2154-08	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	1	0	1	81	413	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	80	407	0	104	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDF2L1	23753	broad.mit.edu	37	22	21998296	21998296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21998296C>T	ENST00000248958.4	+	3	574	c.498C>T	c.(496-498)ggC>ggT	p.G166G	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1			1	Colorectal(54;0.105)				AGCATGTGGGCACCTCTGTGT	0.622000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000248958.4	1	1	hg19	CCDS13792.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320197.1	1	0	1	31	174	0	41	1	1	127	283	0	41	2		0	0	0	0	0	2	1	1	31	171	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P					peptidylprolyl isomerase (cyclophilin)-like 2	p.P193P(1)		17	Colorectal(54;0.105)				AACAGGACCCGTCTTATTATC	0.547000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000335025.8	1	1	hg19	CCDS13793.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4	1	0	1	34	197	0	44	1	9.999731e-01	31	66	0	44	2		0	0	0	0	0	2	1	1	34	197	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
VPREB1	7441	broad.mit.edu	37	22	22599398	22599398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22599398G>A	ENST00000403807.3	+	2	226	c.87G>A	c.(85-87)atG>atA	p.M29I	VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I			P12018	VPREB_HUMAN	pre-B lymphocyte 1			9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)			CGCCGGCCATGTCCTCGGCCC	0.642000																								0							SO:0001583	missense			ENST00000403807.3	1	1	hg19	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	g	10.67	1.415047	0.25552	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.63096	-0.02;-0.02	3.61	-3.22	0.05125	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.358280	0.04993	N	0.467656	T	0.52158	0.1717	L	0.41356	1.27	0.09310	N	1	B	0.27117	0.168	B	0.31946	0.138	T	0.50466	-0.8825	10	0.46703	T	0.11	.	7.0987	0.25325	0.203:0.5644:0.2326:0.0	.	29	P12018	VPREB_HUMAN	I	29;28	ENSP00000385361:M29I;ENSP00000304590:M28I	ENSP00000304590:M28I	M	+	3	0	VPREB1	20929398	0.456000	0.25744	0.001000	0.08648	0.000000	0.00434	0.678000	0.25277	-0.272000	0.09259	-0.914000	0.02751	ATG		TCGA-IB-7651-01A-11D-2154-08	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1	1	0	1	68	287	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	68	281	0	64	2								-20.000000	1	1	121400	1	31	1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF280A	129025	broad.mit.edu	37	22	22868833	22868833	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22868833T>G	ENST00000302097.3	-	2	1374	c.1122A>C	c.(1120-1122)gaA>gaC	p.E374D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A			18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)			CCTGATCTGTTTCAAATGACA	0.488000																								0							SO:0001583	missense			ENST00000302097.3	1	1	hg19	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451797	0.43531	.	.	ENSG00000169548	ENST00000302097	T	0.28069	1.63	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.34221	0.0890	L	0.46819	1.47	0.22389	N	0.99915	P	0.46706	0.883	P	0.47134	0.539	T	0.11542	-1.0583	9	0.51188	T	0.08	0.4225	11.3489	0.49577	0.0:0.0:0.0:1.0	.	374	P59817	Z280A_HUMAN	D	374	ENSP00000302855:E374D	ENSP00000302855:E374D	E	-	3	2	ZNF280A	21198833	1.000000	0.71417	0.497000	0.27552	0.382000	0.30200	1.081000	0.30791	1.988000	0.58038	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	1	0	1	84	419	0	96	0	0	1	0	0	96	2		0	0	0	0	0	2	1	1	80	400	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GGTLC2	91227	broad.mit.edu	37	22	22989491	22989491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22989491G>A	ENST00000480559.1	+	3	343	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	GGTLC2_ENST00000448514.1_Missense_Mutation_p.V115M|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2			11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)			GACGATCATGGTGGGCCAGGA	0.647000																								0							SO:0001583	missense			ENST00000480559.1	1	1	hg19	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	g	9.519	1.107886	0.20714	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.06849	3.25;3.25	.	.	.	.	0.211609	0.40818	N	0.001017	T	0.09335	0.0230	L	0.51853	1.615	0.26742	N	0.970369	P;P	0.41848	0.763;0.763	P;P	0.46208	0.507;0.507	T	0.12372	-1.0550	9	0.45353	T	0.12	-36.1029	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	.	115;115	Q14390;B7WND7	GGTL2_HUMAN;.	M	115	ENSP00000419751:V115M;ENSP00000415676:V115M	ENSP00000415676:V115M	V	+	1	0	GGTLC2	21319491	0.908000	0.30866	0.000000	0.03702	0.000000	0.00434	0.392000	0.20801	-0.000000	0.14550	0.000000	0.15137	GTG		TCGA-IB-7651-01A-11D-2154-08	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	1	0	0	56	667	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	52	605	0	116	2								-12.991320	1	1	0	0		1	1	2	3	2.017290	0	0.170000	2.060000	1.790713e-01	0.930000	0.710000	1.000000	1.000000	0.917954	0.930000	1	8.100000e-01	1
GNAZ	2781	broad.mit.edu	37	22	23465529	23465529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23465529G>A	ENST00000248996.4	+	3	1645	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide			19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)				CTTCACCTGCGCCACCGACAC	0.542000																								0							SO:0001583	missense			ENST00000248996.4	1	1	hg19	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	36	5.944967	0.97134	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98609	1.0662	10	0.87932	D	0	.	18.4882	0.90836	0.0:0.0:1.0:0.0	.	327	P19086	GNAZ_HUMAN	T	327;275	ENSP00000248996:A327T	ENSP00000248996:A327T	A	+	1	0	GNAZ	21795529	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.596000	0.98267	2.695000	0.91970	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	1	0	1	55	231	0	58	1	9.998273e-01	12	45	0	58	2		0	0	0	0	0	2	1	1	55	225	0	57	2								-3.293914	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB36	9609	broad.mit.edu	37	22	23488872	23488872	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23488872G>T	ENST00000263116.2	+	2	307	c.267G>T	c.(265-267)aaG>aaT	p.K89N	RTDR1_ENST00000406876.1_5'Flank|RAB36_ENST00000341989.4_Splice_Site_p.K89N	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family			15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)				GCTTCCCTAAGGTAGAGAGTC	0.572000																								0							SO:0001630	splice_region_variant			ENST00000263116.2	0	1	hg19	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142038	0.77775	.	.	ENSG00000100228	ENST00000263116;ENST00000341989;ENST00000418881	T;T	0.64803	-0.12;0.26	5.2	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	L	0.55990	1.75	0.80722	D	1	D;P	0.63046	0.992;0.93	P;P	0.59948	0.866;0.552	T	0.71076	-0.4697	10	0.72032	D	0.01	-49.6785	10.3228	0.43775	0.0963:0.0:0.9037:0.0	.	89;89	O95755-2;O95755	.;RAB36_HUMAN	N	89;89;50	ENSP00000263116:K89N;ENSP00000343494:K89N	ENSP00000263116:K89N	K	+	3	2	RAB36	21818872	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.759000	0.62227	2.602000	0.87976	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	0	0	0	7	240	0	52	0	1.280194e-01	1	18	0	52	2		0	0	0	0	0	2	1	9.786602e-01	7	232	0	51	2								-3.416406	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.370000	0.160000	1.000000	0.330000	0.435170	0.370000	0	2.400000e-01	5.800000e-01
RAB36	9609	broad.mit.edu	37	22	23495220	23495220	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23495220G>A	ENST00000263116.2	+	5	466	c.426G>A	c.(424-426)agG>agA	p.R142R	RAB36_ENST00000341989.4_Splice_Site_p.G120G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family			15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)				TCCCCCACAGGTTTTGCAAGA	0.478000																								0							SO:0001630	splice_region_variant			ENST00000263116.2	1	0	hg19	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822898	0.50739	.	.	ENSG00000100228	ENST00000420895	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59139	-0.7510	4	.	.	.	.	10.4969	0.44783	0.0886:0.0:0.9114:0.0	.	.	.	.	I	37	.	.	V	+	1	0	RAB36	21825220	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.501000	0.53325	2.709000	0.92574	0.563000	0.77884	GTT		TCGA-IB-7651-01A-11D-2154-08	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	1	0	1	115	406	0	99	1	9.949835e-01	7	24	0	99	2		0	0	0	0	0	2	1	1	115	404	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGL4	266747	broad.mit.edu	37	22	24034358	24034358	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24034358C>T	ENST00000290691.5	+	1	1311	c.141C>T	c.(139-141)ggC>ggT	p.G47G	GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Intron	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4			15					TGCTGTATGGCCAGGTCTGCC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000290691.5	1	1	hg19	CCDS13811.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	1	0	1	112	506	0	113	1	4.419550e-01	4	4	0	113	2		0	0	0	0	0	2	1	1	110	499	0	111	2								-3.377988	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF70	7621	broad.mit.edu	37	22	24086756	24086756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24086756G>A	ENST00000341976.3	-	2	1032	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70			21					CTTCTCCCCGGTGTGGATGAT	0.617000																								0							SO:0001583	missense			ENST00000341976.3	1	1	hg19	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687932	0.68271	.	.	ENSG00000187792	ENST00000341976	T	0.25749	1.78	3.49	3.49	0.39957	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42494	0.1205	L	0.46947	1.48	0.39116	D	0.961569	D	0.89917	1.0	D	0.79784	0.993	T	0.45673	-0.9245	9	0.87932	D	0	-18.761	13.3553	0.60625	0.0:0.0:1.0:0.0	.	191	Q9UC06	ZNF70_HUMAN	I	191	ENSP00000339314:T191I	ENSP00000339314:T191I	T	-	2	0	ZNF70	22416756	1.000000	0.71417	0.972000	0.41901	0.736000	0.42039	7.233000	0.78125	2.269000	0.75478	0.558000	0.71614	ACC		TCGA-IB-7651-01A-11D-2154-08	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	1	0	1	44	238	0	61	0	2.443695e-01	1	5	0	61	2		0	0	0	0	0	2	1	1	42	233	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
VPREB3	29802	broad.mit.edu	37	22	24095296	24095296	+	Missense_Mutation	SNP	C	C	T	rs146725149	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24095296C>T	ENST00000248948.3	-	2	243	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	VPREB3_ENST00000398465.3_Missense_Mutation_p.V31I|ZNF70_ENST00000341976.3_5'Flank	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3			3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)			CTGATGGTGACGTGCTGGGGG	0.632000																								0							SO:0001583	missense			ENST00000248948.3	1	1	hg19	CCDS13813.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	2.301	-0.360116	0.05103	0.012256	0.0	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.32023	1.47;1.5	4.94	-5.77	0.02369	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.857165	0.09939	N	0.736197	T	0.04679	0.0127	N	0.05351	-0.065	0.09310	N	1	P	0.39847	0.691	B	0.31946	0.138	T	0.34527	-0.9825	10	0.02654	T	1	.	1.0886	0.01659	0.2221:0.2842:0.1094:0.3843	.	47	Q9UKI3	VPRE3_HUMAN	I	31;47	ENSP00000381483:V31I;ENSP00000248948:V47I	ENSP00000248948:V47I	V	-	1	0	VPREB3	22425296	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.017000	0.12590	-0.621000	0.05633	-0.534000	0.04291	GTC		TCGA-IB-7651-01A-11D-2154-08	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319879.2	1	0	0	10	145	0	27	0	1.075152e-01	0	8	0	27	2		0	0	0	0	0	2	1	9.965524e-01	10	139	0	27	2								-8.507593	1	1	121408	124	51	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.810000	0.410000	1.000000	1.000000	0.798503	0.810000	0	5.800000e-01	1
MMP11	4320	broad.mit.edu	37	22	24123083	24123083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24123083C>T	ENST00000215743.3	+	5	706	c.654C>T	c.(652-654)ggC>ggT	p.G218G	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)			27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)		Marimastat(DB00786)	ATGAATTTGGCCACGTGCTGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000215743.3	1	1	hg19	CCDS13816.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	0	0	1	47	175	1	63	0	1	8	1766	1	63	69		0	0	0	0	0	2	1	9.999995e-01	47	170	1	63	13								-3.731658	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCB1	6598	broad.mit.edu	37	22	24176329	24176329	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24176329C>T	ENST00000263121.7	+	9	1316	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407422.3_Splice_Site_p.R365W|SMARCB1_ENST00000344921.6_Splice_Site_p.R383W|SMARCB1_ENST00000407082.3_Splice_Site_p.R328W	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	p.?(2)|p.L266_*386del(1)		458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)			CTCTTCCAGGCGGATGAGGCG	0.657000			D, N, F, S		malignant rhabdoid	malignant rhabdoid								yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1		M	3	Unknown(2)|Deletion - In frame(1)						SO:0001630	splice_region_variant			ENST00000263121.7	0	0	hg19	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442226	0.63067	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.97529	-4.34;-4.42;-4.38;-4.27	4.94	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.919;0.964	D	0.98645	1.0677	10	0.87932	D	0	-9.4379	14.0034	0.64446	0.1526:0.8474:0.0:0.0	.	383;365;374	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	W	383;374;365;328	ENSP00000340883:R383W;ENSP00000263121:R374W;ENSP00000383984:R365W;ENSP00000385226:R328W	ENSP00000263121:R374W	R	+	1	2	SMARCB1	22506329	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	4.566000	0.60843	1.206000	0.43276	0.442000	0.29010	CGG		TCGA-IB-7651-01A-11D-2154-08	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	1	0	1	8	38	0	8	1	1	94	392	0	8	2		0	0	0	0	0	2	1	9.907779e-01	8	37	0	8	2								-16.214580	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.930000	1.000000	1.000000	0.994912	0.990000	1	9.900000e-01	1
DERL3	91319	broad.mit.edu	37	22	24179333	24179333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24179333C>T	ENST00000318109.7	-	6	548	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	DERL3_ENST00000406855.3_Missense_Mutation_p.V178M|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M|DERL3_ENST00000404056.1_Missense_Mutation_p.V151M			Q96Q80	DERL3_HUMAN	derlin 3			3					ATATGGCCCACCGCAATCCCT	0.627000																								0							SO:0001583	missense			ENST00000318109.7	1	1	hg19	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737813	0.69304	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.33865	2.66;1.39;2.66;2.66	4.63	3.59	0.41128	.	0.070231	0.56097	D	0.000031	T	0.64940	0.2644	M	0.90082	3.085	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.73708	0.972;0.981	T	0.73275	-0.4034	10	0.72032	D	0.01	.	13.4842	0.61355	0.1578:0.8422:0.0:0.0	.	178;178	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	M	178;151;178;178	ENSP00000384744:V178M;ENSP00000384473:V151M;ENSP00000315303:V178M;ENSP00000419399:V178M	ENSP00000315303:V178M	V	-	1	0	DERL3	22509333	1.000000	0.71417	0.711000	0.30485	0.851000	0.48451	5.767000	0.68850	1.074000	0.40909	0.558000	0.71614	GTG		TCGA-IB-7651-01A-11D-2154-08	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	1	0	0	13	218	0	55	0	9.999996e-01	1	544	0	55	2		0	0	0	0	0	2	1	9.995125e-01	13	213	0	54	2								-16.600310	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.700000	0.380000	1.000000	1.000000	0.723480	0.700000	0	5.200000e-01	9.800000e-01
CABIN1	23523	broad.mit.edu	37	22	24455729	24455729	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24455729T>C	ENST00000398319.2	+	11	1687	c.1302T>C	c.(1300-1302)ttT>ttC	p.F434F	CABIN1_ENST00000263119.5_Silent_p.F434F|CABIN1_ENST00000405822.2_Silent_p.F384F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1			65					ATGATTCCTTTAATAACTATG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000398319.2	1	1	hg19	CCDS13823.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1	53	178	0	55	1	9.992978e-01	9	31	0	55	2		0	0	0	0	0	2	1	1	53	175	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CABIN1	23523	broad.mit.edu	37	22	24456585	24456585	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24456585G>A	ENST00000398319.2	+	12	1983	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y|CABIN1_ENST00000405822.2_Missense_Mutation_p.C483Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1			65					CTGAGGGACTGCAGCAACAAG	0.622000																								0							SO:0001583	missense			ENST00000398319.2	1	1	hg19	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647862	0.67358	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75050	-0.9;-0.9;-0.9	5.19	5.19	0.71726	.	0.048717	0.85682	D	0.000000	T	0.77738	0.4175	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.59487	0.858;0.726	T	0.75912	-0.3150	10	0.36615	T	0.2	.	14.5566	0.68103	0.0:0.1575:0.8425:0.0	.	483;533	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Y	533;483;533	ENSP00000263119:C533Y;ENSP00000384694:C483Y;ENSP00000381364:C533Y	ENSP00000263119:C533Y	C	+	2	0	CABIN1	22786585	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.950000	0.70265	2.592000	0.87571	0.644000	0.83932	TGC		TCGA-IB-7651-01A-11D-2154-08	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1	39	151	0	31	1	9.996205e-01	15	35	0	31	2		0	0	0	0	0	2	1	1	39	150	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CABIN1	23523	broad.mit.edu	37	22	24480696	24480696	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24480696C>T	ENST00000398319.2	+	21	3460	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	CABIN1_ENST00000263119.5_Silent_p.S1025S|CABIN1_ENST00000405822.2_Silent_p.S975S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1			65					CAGCCCTTAGCCTGGACAAAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000398319.2	1	1	hg19	CCDS13823.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1	77	310	0	65	1	9.999330e-01	9	50	0	65	2		0	0	0	0	0	2	1	1	76	304	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CABIN1	23523	broad.mit.edu	37	22	24509677	24509677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24509677C>T	ENST00000398319.2	+	27	4647	c.4262C>T	c.(4261-4263)gCg>gTg	p.A1421V	CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1342V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1			65					CAAGCAGGAGCGACGGGTAAA	0.507000																								0							SO:0001583	missense			ENST00000398319.2	1	1	hg19	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072617	0.08436	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.63580	0.17;-0.05;0.17	4.44	-7.85	0.01192	.	1.488080	0.03540	N	0.223755	T	0.35885	0.0947	N	0.14661	0.345	0.09310	N	1	B;B	0.23058	0.079;0.048	B;B	0.15870	0.014;0.006	T	0.41431	-0.9509	10	0.06236	T	0.91	.	9.8865	0.41264	0.0:0.1883:0.1182:0.6935	.	1342;1421	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	1421;1342;1421	ENSP00000263119:A1421V;ENSP00000384694:A1342V;ENSP00000381364:A1421V	ENSP00000263119:A1421V	A	+	2	0	CABIN1	22839677	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.152000	0.16302	-1.329000	0.02258	-1.867000	0.00556	GCG		TCGA-IB-7651-01A-11D-2154-08	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1	85	460	0	135	1	9.999990e-01	21	87	0	135	2		0	0	0	0	0	2	1	1	83	443	0	135	2								-20.000000	1	1	121410	2	36	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CABIN1	23523	broad.mit.edu	37	22	24561582	24561582	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24561582C>T	ENST00000398319.2	+	31	5380	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	CABIN1_ENST00000337989.7_Silent_p.S90S|CABIN1_ENST00000263119.5_Silent_p.S1665S|CABIN1_ENST00000405822.2_Silent_p.S1586S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1			65					ACACGCTGAGCGAGCTCGCAG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000398319.2	1	1	hg19	CCDS13823.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1	23	79	0	23	1	9.999999e-01	28	83	0	23	2		0	0	0	0	0	2	1	9.999998e-01	23	79	0	22	2								-20.000000	1	1	121350	7	40	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SUSD2	56241	broad.mit.edu	37	22	24583271	24583271	+	Missense_Mutation	SNP	G	G	A	rs116324909	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583271G>A	ENST00000358321.3	+	11	2005	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2			26					GAGTGTGTCCGTCCTGCTGCC	0.657000																								0							SO:0001583	missense			ENST00000358321.3	1	1	hg19	CCDS13824.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.542	1.113576	0.20795	0.003177	0.0	ENSG00000099994	ENST00000358321	T	0.60797	0.16	4.49	1.1	0.20463	von Willebrand factor, type D domain (3);	0.124624	0.53938	N	0.000055	T	0.36166	0.0957	L	0.53617	1.68	0.33002	D	0.526427	B	0.28470	0.213	B	0.23018	0.043	T	0.41680	-0.9495	10	0.26408	T	0.33	-35.7097	7.3624	0.26754	0.3256:0.0:0.6744:0.0	.	582	Q9UGT4	SUSD2_HUMAN	I	582	ENSP00000351075:V582I	ENSP00000351075:V582I	V	+	1	0	SUSD2	22913271	0.988000	0.35896	0.139000	0.22197	0.023000	0.10783	1.336000	0.33850	0.071000	0.16664	0.549000	0.68633	GTC		TCGA-IB-7651-01A-11D-2154-08	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	0	0	0	11	259	0	55	0	9.852083e-01	0	171	0	55	2		0	0	0	0	0	2	1	9.982559e-01	11	254	0	54	2								-12.279080	1	0	121412	52	49	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.510000	0.260000	1.000000	0.470000	0.562079	0.510000	0	3.700000e-01	7.400000e-01
GGT5	2687	broad.mit.edu	37	22	24622114	24622114	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622114C>T	ENST00000327365.4	-	8	1575	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	GGT5_ENST00000263112.7_Missense_Mutation_p.G355S|GGT5_ENST00000398292.3_Missense_Mutation_p.G387S|GGT5_ENST00000418439.2_Missense_Mutation_p.G310S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5			28					TGGGACGTGCCTGTCCCGTGG	0.692000																								0							SO:0001583	missense			ENST00000327365.4	1	1	hg19	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715644	0.68844	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.995;1.0	D;D;D;D;D	0.91635	0.984;0.99;0.999;0.97;0.999	T	0.29912	-0.9996	10	0.72032	D	0.01	-35.4785	15.122	0.72450	0.0:1.0:0.0:0.0	.	310;355;387;387;387	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	S	387;355;302;387;310	ENSP00000330080:G387S;ENSP00000263112:G355S;ENSP00000381340:G387S;ENSP00000392146:G310S	ENSP00000263112:G355S	G	-	1	0	GGT5	22952114	1.000000	0.71417	0.990000	0.47175	0.058000	0.15608	6.805000	0.75191	2.262000	0.75019	0.485000	0.47835	GGC		TCGA-IB-7651-01A-11D-2154-08	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	1	0	1	28	150	0	29	0	1	0	481	0	29	2		0	0	0	0	0	2	1	1	28	143	0	27	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
ADORA2A	135	broad.mit.edu	37	22	24829461	24829461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24829461C>T	ENST00000337539.7	+	2	548	c.89C>T	c.(88-90)gCc>gTc	p.A30V	ADORA2A_ENST00000496497.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor			21	Colorectal(2;0.196)			Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GTGTGCTGGGCCGTGTGGCTC	0.617000																								0							SO:0001583	missense			ENST00000337539.7	1	1	hg19	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963669	0.92791	.	.	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.33216	1.42;2.22;2.22;1.42;1.42	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	T	0.55289	-0.8164	10	0.51188	T	0.08	-14.2269	16.4299	0.83839	0.0:1.0:0.0:0.0	.	30	P29274	AA2AR_HUMAN	V	30	ENSP00000404497:A30V;ENSP00000414802:A30V;ENSP00000336630:A30V;ENSP00000397071:A30V;ENSP00000400190:A30V	ENSP00000336630:A30V	A	+	2	0	ADORA2A	23159461	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.463000	0.80869	2.350000	0.79820	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	1	0	1	79	296	0	75	0	3.744038e-01	0	6	0	75	2		0	0	0	0	0	2	1	1	78	292	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UPB1	51733	broad.mit.edu	37	22	24891453	24891453	+	Missense_Mutation	SNP	G	G	A	rs141896929	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24891453G>A	ENST00000326010.5	+	1	426	c.82G>A	c.(82-84)Gtt>Att	p.V28I	UPB1_ENST00000413389.2_Missense_Mutation_p.R17H|ADORA2A-AS1_ENST00000412790.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|UPB1_ENST00000382760.2_Missense_Mutation_p.V28I	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta			22	Colorectal(2;0.0339)				AGTGAAGCGCGTTCTCTATGG	0.637000																								0							SO:0001583	missense			ENST00000326010.5	1	1	hg19	CCDS13827.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.46|16.46	3.129310|3.129310	0.56721|0.56721	0.009079|0.009079	1.16E-4|1.16E-4	ENSG00000100024|ENSG00000100024	ENST00000413389|ENST00000326010;ENST00000382760;ENST00000426507	D|T;T	0.83419|0.77620	-1.72|-1.11;-1.11	5.1|5.1	0.391|0.391	0.16282|0.16282	.|.	.|0.482685	.|0.23386	.|N	.|0.048743	T|T	0.30355|0.30355	0.0762|0.0762	N|N	0.01168|0.01168	-0.975|-0.975	0.21416|0.21416	N|N	0.999692|0.999692	B|B	0.02656|0.06786	0.0|0.001	B|B	0.01281|0.04013	0.0|0.001	T|T	0.38950|0.38950	-0.9637|-0.9637	9|10	0.48119|0.02654	T|T	0.1|1	0.7381|0.7381	4.0678|4.0678	0.09868|0.09868	0.434:0.3568:0.2092:0.0|0.434:0.3568:0.2092:0.0	.|.	17|28	E7EUZ5|Q9UBR1	.|BUP1_HUMAN	H|I	17|28	ENSP00000406057:R17H|ENSP00000324343:V28I;ENSP00000372208:V28I	ENSP00000406057:R17H|ENSP00000324343:V28I	R|V	+|+	2|1	0|0	UPB1|UPB1	23221453|23221453	0.006000|0.006000	0.16342|0.16342	0.938000|0.938000	0.37757|0.37757	0.928000|0.928000	0.56348|0.56348	-0.076000|-0.076000	0.11412|0.11412	-0.144000|-0.144000	0.11314|0.11314	0.585000|0.585000	0.79938|0.79938	CGT|GTT		TCGA-IB-7651-01A-11D-2154-08	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1	1	0	1	79	351	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	78	343	0	84	2								-3.450241	1	1	121412	80	51	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UPB1	51733	broad.mit.edu	37	22	24898122	24898122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24898122C>A	ENST00000326010.5	+	3	649	c.305C>A	c.(304-306)gCt>gAt	p.A102D	UPB1_ENST00000413389.2_Missense_Mutation_p.A34D|UPB1_ENST00000382760.2_Missense_Mutation_p.A102D	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta			22	Colorectal(2;0.0339)				CGCATAAAGGCTATCGTAGAG	0.408000																								0							SO:0001583	missense			ENST00000326010.5	1	1	hg19	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	2.597	-0.293848	0.05568	.	.	ENSG00000100024	ENST00000413389;ENST00000326010;ENST00000382760;ENST00000426507	D;D;D	0.86865	-2.18;-2.18;-1.67	5.06	1.42	0.22433	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.167322	0.52532	D	0.000072	T	0.69415	0.3108	N	0.10972	0.075	0.29193	N	0.875738	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.55829	-0.8079	10	0.15499	T	0.54	-12.8567	7.4629	0.27306	0.5662:0.312:0.1217:0.0	.	102;34	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	D	34;102;102;102	ENSP00000406057:A34D;ENSP00000324343:A102D;ENSP00000372208:A102D	ENSP00000324343:A102D	A	+	2	0	UPB1	23228122	1.000000	0.71417	0.111000	0.21465	0.074000	0.17049	3.355000	0.52262	0.470000	0.27294	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1	0	0	0	30	749	0	165		0	0	0	0	165	2		0	0	0	0	0	2	1	1	30	730	0	164	2								-3.829435	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.470000	0.310000	1.000000	0.450000	0.520279	0.470000	0	3.800000e-01	6.000000e-01
GGT1	2678	broad.mit.edu	37	22	25007192	25007192	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25007192G>A	ENST00000400382.1	+	5	899	c.144G>A	c.(142-144)aaG>aaA	p.K48K	GGT1_ENST00000400380.1_Silent_p.K48K|GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000406383.2_Silent_p.K48K			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1			40				Glutathione(DB00143)	CGGATGCCAAGCAGTGCTCGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000400382.1	0	1	hg19	CCDS42992.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	0	0	0	6	25	0	8	1	9.999782e-01	15	133	0	8	2		0	0	0	0	0	2	1	9.670243e-01	6	24	0	7	2								-14.127220	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.870000	1.000000	1.000000	0.992116	0.990000	1	9.900000e-01	1
PIWIL3	440822	broad.mit.edu	37	22	25131759	25131759	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25131759C>A	ENST00000332271.5	-	13	1966	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3			50					TCTGTGACTGCTCCTGCTATA	0.428000																								0							SO:0001583	missense			ENST00000332271.5	1	1	hg19	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641480	0.29157	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.05081	3.5;3.5;3.5	1.85	-2.71	0.05986	Ribonuclease H-like (1);	0.337015	0.28062	U	0.016756	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;P;P	0.45715	0.382;0.789;0.865	B;P;B	0.44597	0.031;0.454;0.326	T	0.40776	-0.9545	10	0.72032	D	0.01	4.0E-4	6.8962	0.24257	0.0:0.5027:0.0:0.4973	.	408;517;517	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	517;408;408	ENSP00000330031:S517I;ENSP00000431843:S408I;ENSP00000435718:S408I	ENSP00000330031:S517I	S	-	2	0	PIWIL3	23461759	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.032000	0.30178	-0.695000	0.05105	-0.657000	0.03884	AGC		TCGA-IB-7651-01A-11D-2154-08	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	1	0	1	162	769	0	189		0	0	0	0	189	2		0	0	0	0	0	2	1	1	161	760	0	188	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIWIL3	440822	broad.mit.edu	37	22	25144975	25144975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25144975G>A	ENST00000332271.5	-	12	1764	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R341*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3			50					AGTAACTCTCGTACTTTTTTA	0.353000																								0							SO:0001587	stop_gained			ENST00000332271.5	0	1	hg19	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	38	6.678384	0.97755	4.54E-4	0.0	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	.	.	.	2.29	1.22	0.21188	.	0.304714	0.31020	U	0.008412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-1.0893	8.1043	0.30877	0.0:0.0:0.7572:0.2427	.	.	.	.	X	450;341;341	.	ENSP00000330031:R450X	R	-	1	2	PIWIL3	23474975	0.483000	0.25956	0.001000	0.08648	0.003000	0.03518	3.170000	0.50816	0.505000	0.28104	0.313000	0.20887	CGA		TCGA-IB-7651-01A-11D-2154-08	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	0	0	0	9	328	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.940612e-01	10	324	0	59	2								-2.829000	1	1	121408	1	35	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.340000	0.160000	1.000000	0.320000	0.409036	0.340000	0	2.400000e-01	5.200000e-01
SGSM1	129049	broad.mit.edu	37	22	25251355	25251355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251355C>T	ENST00000400359.4	+	7	634	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SGSM1_ENST00000400358.4_Silent_p.S209S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1			41					TCCACAGCTCCCACGTGCGGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000400359.4	1	1	hg19	CCDS46674.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	1	0	1	23	118	0	33	0	2.913753e-02	0	2	0	33	2		0	0	0	0	0	2	1	9.999996e-01	23	115	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999905	0.990000	1	9.900000e-01	1
SGSM1	129049	broad.mit.edu	37	22	25251633	25251633	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251633G>A	ENST00000400359.4	+	8	794	c.787G>A	c.(787-789)Gtt>Att	p.V263I	SGSM1_ENST00000400358.4_Missense_Mutation_p.V263I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1			41					CAAAAACAACGTTCTTGTTCA	0.552000																								0							SO:0001583	missense			ENST00000400359.4	1	1	hg19	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140086	0.77775	0.0	1.2E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.19669	2.17;2.13	4.05	4.05	0.47172	.	0.058022	0.64402	N	0.000002	T	0.50820	0.1638	M	0.85859	2.78	0.80722	D	1	P;D;D;P;D	0.89917	0.917;0.999;1.0;0.955;0.985	B;D;D;B;D	0.91635	0.357;0.99;0.999;0.332;0.939	T	0.61749	-0.6999	10	0.87932	D	0	-25.9808	15.5962	0.76583	0.0:0.0:1.0:0.0	.	263;238;396;263;238	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	I	238;263;263	ENSP00000383211:V263I;ENSP00000383212:V263I	ENSP00000383211:V263I	V	+	1	0	SGSM1	23581633	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	9.711000	0.98735	1.982000	0.57802	0.478000	0.44815	GTT		TCGA-IB-7651-01A-11D-2154-08	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	1	0	1	34	171	0	44	0	7.743115e-02	1	2	0	44	2		0	0	0	0	0	2	1	1	33	168	0	42	2								-19.112550	1	1	120964	3	37	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
SGSM1	129049	broad.mit.edu	37	22	25255780	25255780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25255780C>T	ENST00000400359.4	+	9	906	c.899C>T	c.(898-900)tCt>tTt	p.S300F	SGSM1_ENST00000400358.4_Missense_Mutation_p.S300F	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1			41					ATGAACGGGTCTGTGGGGGAC	0.602000																								0							SO:0001583	missense			ENST00000400359.4	1	0	hg19	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926474	0.52759	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08984	3.05;3.03	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.998;0.998;0.997	D;P;D;D;D	0.85130	0.997;0.898;0.969;0.923;0.931	T	0.04825	-1.0924	10	0.18276	T	0.48	-17.0256	17.5542	0.87886	0.0:1.0:0.0:0.0	.	300;416;433;300;433	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	F	416;300;300	ENSP00000383211:S300F;ENSP00000383212:S300F	ENSP00000383211:S300F	S	+	2	0	SGSM1	23585780	0.941000	0.31946	1.000000	0.80357	0.487000	0.33371	2.708000	0.47152	2.460000	0.83146	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	1	0	0	105	560	0	147	0	0	0	1	0	147	2		0	0	0	0	0	2	1	1	102	547	0	144	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM211	255349	broad.mit.edu	37	22	25331516	25331516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25331516G>A	ENST00000423535.1	-	3	386	c.387C>T	c.(385-387)gcC>gcT	p.A129A	TMEM211_ENST00000382744.1_Silent_p.A58A|TMEM211_ENST00000407886.1_Silent_p.A58A			Q6ICI0	TM211_HUMAN	transmembrane protein 211			8					TGAATGGGGAGGCAAGGCCGA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000423535.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	7	339	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	9.785286e-01	7	328	0	76	2								-7.064444	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.260000	0.110000	1.000000	0.240000	0.340184	0.260000	0	1.700000e-01	4.200000e-01
CRYBB3	1417	broad.mit.edu	37	22	25601329	25601329	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25601329C>T	ENST00000215855.2	+	5	550	c.470C>T	c.(469-471)aCg>aTg	p.T157M	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3			5					ATCAACGGGACGTAAGGGACC	0.532000																								0							SO:0001630	splice_region_variant			ENST00000215855.2	1	0	hg19	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237932	0.58886	0.0	1.16E-4	ENSG00000100053	ENST00000215855	T	0.76186	-1.0	5.16	4.14	0.48551	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.114213	0.64402	N	0.000015	D	0.86477	0.5942	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86989	0.2109	10	0.46703	T	0.11	.	12.2128	0.54389	0.0:0.9167:0.0:0.0833	.	157	P26998	CRBB3_HUMAN	M	157	ENSP00000215855:T157M	ENSP00000215855:T157M	T	+	2	0	CRYBB3	23931329	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.138000	0.64795	1.187000	0.43000	0.549000	0.68633	ACG		TCGA-IB-7651-01A-11D-2154-08	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	1	0	0	19	111	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.999930e-01	17	110	0	26	2								-20.000000	1	1	121412	21	41	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999197	0.990000	1	9.900000e-01	1
CRYBB2	1415	broad.mit.edu	37	22	25625529	25625529	+	Missense_Mutation	SNP	C	C	T	rs2330991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25625529C>T	ENST00000398215.2	+	5	604	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2			10					GTCATCTGTGCGGGTGCAGAG	0.567000																								0							SO:0001583	missense			ENST00000398215.2	1	1	hg19	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179679	0.57800	.	.	ENSG00000244752	ENST00000398215	T	0.78595	-1.19	5.0	1.17	0.20885	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	H	0.94503	3.545	0.58432	D	0.999995	D	0.76494	0.999	D	0.71870	0.975	D	0.92011	0.5618	10	0.66056	D	0.02	.	14.3933	0.66994	0.3923:0.6077:0.0:0.0	rs2330991	145	P43320	CRBB2_HUMAN	W	145	ENSP00000381273:R145W	ENSP00000381273:R145W	R	+	1	2	CRYBB2	23955529	0.950000	0.32346	0.848000	0.33437	0.970000	0.65996	0.103000	0.15292	0.480000	0.27534	-0.188000	0.12872	CGG		TCGA-IB-7651-01A-11D-2154-08	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	1	0	1	30	149	0	31	0	3.011353e-02	1	1	0	31	2		0	0	0	0	0	2	1	1	30	148	0	31	2								-3.293669	1	1	121412	6	15	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
CRYBB2	1415	broad.mit.edu	37	22	25627693	25627693	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25627693G>A	ENST00000398215.2	+	6	743	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2			10					CGCCGTATCCGCGACATGCAG	0.652000																								0							SO:0001583	missense			ENST00000398215.2	1	1	hg19	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863202	0.32884	.	.	ENSG00000244752	ENST00000398215	T	0.76316	-1.01	3.98	3.98	0.46160	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.057317	0.64402	D	0.000002	T	0.76842	0.4044	M	0.83692	2.655	0.58432	D	0.999999	P	0.43750	0.816	B	0.36030	0.216	T	0.79888	-0.1613	10	0.36615	T	0.2	.	15.0574	0.71925	0.0:0.0:1.0:0.0	.	191	P43320	CRBB2_HUMAN	H	191	ENSP00000381273:R191H	ENSP00000381273:R191H	R	+	2	0	CRYBB2	23957693	1.000000	0.71417	0.955000	0.39395	0.003000	0.03518	5.905000	0.69893	1.763000	0.52060	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	1	0	1	100	545	0	118	1	6.591683e-02	2	1	0	118	2		0	0	0	0	0	2	1	1	98	526	1	114	19								-20.000000	1	1	121412	17	44	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP5L	91355	broad.mit.edu	37	22	25750768	25750768	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25750768G>A	ENST00000402785.2	-	3	546	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_ENST00000444995.3_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	p.V150V(1)		6					TCGTCTCATCGACACTGATCG	0.607000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000402785.2	1	1	hg19	CCDS33626.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	1	0	1	51	202	0	44	0	7.295086e-01	1	11	0	44	2		0	0	0	0	0	2	1	1	50	201	0	43	2								-20.000000	1	1	121394	2	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADRBK2	157	broad.mit.edu	37	22	26107046	26107046	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26107046C>A	ENST00000324198.6	+	17	1599	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2			32				Adenosine triphosphate(DB00171)	ACCCACCACCCTTGATTCCTC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000324198.6	0	1	hg19	CCDS13832.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	0	0	0	12	141	0	30	1	9.314925e-01	7	50	0	30	2		0	0	0	0	0	2	1	9.991056e-01	11	138	0	30	2								-3.222248	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.970000	0.530000	1.000000	1.000000	0.892016	0.970000	1	7.200000e-01	1
MYO18B	84700	broad.mit.edu	37	22	26165028	26165028	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26165028C>A	ENST00000407587.2	+	4	1314	c.1145C>A	c.(1144-1146)aCt>aAt	p.T382N	MYO18B_ENST00000335473.7_Missense_Mutation_p.T382N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					CGGAGCACGACTGGGAAGGCA	0.587000																								0							SO:0001583	missense			ENST00000407587.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.53	1.375684	0.24857	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86562	-2.12;-2.12;-2.14	3.72	2.68	0.31781	.	3.390750	0.01089	N	0.005146	T	0.79058	0.4382	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29037	0.148;0.231;0.231	B;B;B	0.25405	0.027;0.06;0.06	T	0.67428	-0.5673	10	0.45353	T	0.12	.	5.4493	0.16554	0.1972:0.6899:0.0:0.1129	.	382;382;382	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	382	ENSP00000441229:T382N;ENSP00000334563:T382N;ENSP00000386096:T382N	ENSP00000334563:T382N	T	+	2	0	MYO18B	24495028	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	0.839000	0.34971	0.491000	0.48974	ACT		TCGA-IB-7651-01A-11D-2154-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	19	87	0	20	0	0	1	0	0	20	2		0	0	0	0	0	2	1	9.999943e-01	18	86	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999893	0.990000	1	9.900000e-01	1
MYO18B	84700	broad.mit.edu	37	22	26219522	26219522	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26219522G>A	ENST00000407587.2	+	13	2741	c.2572G>A	c.(2572-2574)Gcc>Acc	p.A858T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A858T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A858T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					CGCAGCTGAGGCCCTGGGCTG	0.587000																								0							SO:0001583	missense			ENST00000407587.2	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	8.808	0.934462	0.18206	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.71698	-0.59;-0.59;-0.59	4.63	4.63	0.57726	Myosin head, motor domain (2);	0.155896	0.41396	D	0.000899	T	0.67636	0.2914	L	0.50333	1.59	0.29691	N	0.84094	P;P;P;P	0.48834	0.825;0.916;0.873;0.897	B;B;B;B	0.44108	0.313;0.441;0.273;0.313	T	0.66803	-0.5831	10	0.29301	T	0.29	.	16.3964	0.83607	0.0:0.0:1.0:0.0	.	371;858;858;858	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	858	ENSP00000441229:A858T;ENSP00000334563:A858T;ENSP00000386096:A858T	ENSP00000334563:A858T	A	+	1	0	MYO18B	24549522	1.000000	0.71417	0.997000	0.53966	0.047000	0.14425	2.877000	0.48506	2.269000	0.75478	0.448000	0.29417	GCC		TCGA-IB-7651-01A-11D-2154-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	0	117	520	0	135	0	0	1	0	0	135	2		0	0	0	0	0	2	1	1	116	512	0	135	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO18B	84700	broad.mit.edu	37	22	26224921	26224921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26224921C>T	ENST00000407587.2	+	15	3134	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*	MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					CTCCACGCTACAGCGATATCA	0.602000																								0							SO:0001587	stop_gained			ENST00000407587.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	41	8.572203	0.98868	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.69	3.67	0.42095	.	0.126707	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7042	0.62627	0.0:0.1588:0.8412:0.0	.	.	.	.	X	989	.	ENSP00000334563:Q989X	Q	+	1	0	MYO18B	24554921	1.000000	0.71417	0.976000	0.42696	0.021000	0.10359	3.493000	0.53266	1.196000	0.43129	-0.256000	0.11100	CAG		TCGA-IB-7651-01A-11D-2154-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	43	193	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	43	191	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO18B	84700	broad.mit.edu	37	22	26346384	26346384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26346384G>A	ENST00000407587.2	+	37	5972	c.5803G>A	c.(5803-5805)Gcc>Acc	p.A1935T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A1934T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					GCTGGAGGAAGCCAAGAAGGA	0.438000																								0							SO:0001583	missense			ENST00000407587.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.98	2.399706	0.42512	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88046	-2.31;-2.31;-2.33	5.51	0.915	0.19366	.	0.363968	0.25780	N	0.028356	T	0.73713	0.3622	N	0.17474	0.49	0.24291	N	0.995169	B;B;B;B	0.18310	0.004;0.01;0.027;0.016	B;B;B;B	0.13407	0.009;0.004;0.009;0.009	T	0.60177	-0.7314	10	0.31617	T	0.26	.	9.1788	0.37129	0.3555:0.0:0.6444:0.0	.	1447;1934;1935;1934	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1934;1934;1935	ENSP00000441229:A1934T;ENSP00000334563:A1934T;ENSP00000386096:A1935T	ENSP00000334563:A1934T	A	+	1	0	MYO18B	24676384	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.721000	0.47260	0.281000	0.22233	-0.251000	0.11542	GCC		TCGA-IB-7651-01A-11D-2154-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	0	1	8	60	0	20	0	0	1	0	0	20	2		0	0	0	0	0	2	1	9.882433e-01	8	56	0	20	2								-14.412260	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.680000	1.000000	1.000000	0.973599	0.990000	1	9.900000e-01	1
MYO18B	84700	broad.mit.edu	37	22	26399271	26399271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26399271G>A	ENST00000407587.2	+	41	6500	c.6331G>A	c.(6331-6333)Gag>Aag	p.E2111K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2110K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	p.E2111Q(1)		146					CGGCCGAAAAGAGATGTAAGT	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000407587.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.06	3.015121	0.54468	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86694	-2.14;-2.14;-2.16	4.29	4.29	0.51040	.	0.334578	0.25094	N	0.033186	D	0.89808	0.6822	L	0.57536	1.79	0.35715	D	0.816692	P;P;P;D	0.64830	0.827;0.956;0.932;0.994	P;P;P;P	0.59056	0.52;0.572;0.655;0.851	D	0.91894	0.5526	10	0.54805	T	0.06	.	12.548	0.56212	0.0:0.0:1.0:0.0	.	1623;2110;2111;2110	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	2110;2110;2111	ENSP00000441229:E2110K;ENSP00000334563:E2110K;ENSP00000386096:E2111K	ENSP00000334563:E2110K	E	+	1	0	MYO18B	24729271	1.000000	0.71417	0.996000	0.52242	0.299000	0.27559	3.817000	0.55668	2.683000	0.91414	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	14	52	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.998502e-01	14	51	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999826	0.990000	1	9.900000e-01	1
MYO18B	84700	broad.mit.edu	37	22	26423431	26423431	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26423431G>T	ENST00000407587.2	+	43	7663	c.7494G>T	c.(7492-7494)gaG>gaT	p.E2498D	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2497D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					AGAGCCCGGAGCCCAAGGAGG	0.537000																								0							SO:0001583	missense			ENST00000407587.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.083909|3.083909	0.55861|0.55861	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.89343|.	-2.48;-2.48;-2.5|.	5.17|5.17	1.31|1.31	0.21738|0.21738	.|.	0.589854|.	0.15351|.	N|.	0.266962|.	T|T	0.42743|0.42743	0.1216|0.1216	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.67145|.	0.988;0.993;0.993;0.996;0.996|.	P;P;P;P;P|.	0.60609|.	0.829;0.757;0.757;0.877;0.877|.	T|T	0.31641|0.31641	-0.9936|-0.9936	10|5	0.54805|.	T|.	0.06|.	.|.	7.0998|7.0998	0.25330|0.25330	0.173:0.2663:0.5607:0.0|0.173:0.2663:0.5607:0.0	.|.	2010;2499;2497;2498;2497|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2497;2497;2498|447	ENSP00000441229:E2497D;ENSP00000334563:E2497D;ENSP00000386096:E2498D|.	ENSP00000334563:E2497D|.	E|S	+|+	3|2	2|0	MYO18B|MYO18B	24753431|24753431	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.761000|0.761000	0.43186|0.43186	0.422000|0.422000	0.21296|0.21296	0.537000|0.537000	0.28751|0.28751	0.561000|0.561000	0.74099|0.74099	GAG|AGC		TCGA-IB-7651-01A-11D-2154-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	0	1	46	175	0	32	0	2.856067e-01	1	4	0	32	2		0	0	0	0	0	2	1	1	45	172	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEZ6L	23544	broad.mit.edu	37	22	26761510	26761510	+	Silent	SNP	C	C	T	rs149968977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26761510C>T	ENST00000248933.6	+	13	2867	c.2772C>T	c.(2770-2772)aaC>aaT	p.N924N	SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000404234.3_Silent_p.N924N|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000529632.2_Silent_p.N924N|SEZ6L_ENST00000402979.1_Silent_p.N697N|SEZ6L_ENST00000494013.1_3'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like			80					CCCACTGGAACGGGCCCCTGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000248933.6	1	1	hg19	CCDS13833.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3	1	0	0	41	233	0	71	0	6.296088e-02	0	3	0	71	2		0	0	0	0	0	2	1	1	41	229	0	70	2								-20.000000	1	1	121410	7	36	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
ASPHD2	57168	broad.mit.edu	37	22	26830336	26830336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26830336G>A	ENST00000215906.5	+	2	1193	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2			16					CGGACGTACCGCTTGCTCGGA	0.537000																								0							SO:0001583	missense			ENST00000215906.5	1	1	hg19	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652026	0.88056	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67256	-0.5716	10	0.51188	T	0.08	-44.4226	17.0945	0.86631	0.0:0.0:1.0:0.0	.	252	Q6ICH7	ASPH2_HUMAN	H	252	ENSP00000215906:R252H	ENSP00000215906:R252H	R	+	2	0	ASPHD2	25160336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	1	0	1	125	513	0	131	1	9.999967e-01	36	38	0	131	2		0	0	0	0	0	2	1	1	122	510	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPHD2	57168	broad.mit.edu	37	22	26838423	26838423	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26838423A>G	ENST00000215906.5	+	3	1324		c.e3-1		HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2			16					TTTTCCTACAAGGTCTGAAAA	0.517000																								0							SO:0001630	splice_region_variant			ENST00000215906.5	1	1	hg19	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905827	0.33628	.	.	ENSG00000128203	ENST00000215906	.	.	.	4.35	-0.369	0.12534	.	.	.	.	.	.	.	.	.	.	.	0.46521	D	0.999083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8781	0.13665	0.6668:0.1526:0.1806:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASPHD2	25168423	1.000000	0.71417	0.015000	0.15790	0.431000	0.31685	8.271000	0.89883	-0.227000	0.09884	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	1	0	1	77	688	0	123	0	0	0	1	0	123	2		0	0	0	0	0	2	1	1	75	670	0	121	2								-19.998690	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.960000	1.000000	1.000000	0.997712	0.990000	1	9.900000e-01	1
HPS4	89781	broad.mit.edu	37	22	26854526	26854526	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26854526A>C	ENST00000398145.2	-	12	2347	c.1731T>G	c.(1729-1731)gcT>gcG	p.A577A	HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Silent_p.A572A|HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000398141.1_Silent_p.A590A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4			32					CATTCAGTGAAGCCAGGCTGC	0.552000									Hermansky-Pudlak syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	ENST00000398145.2	1	1	hg19	CCDS13835.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	1	0	1	24	160	0	35	1	9.939359e-01	9	48	0	35	2		0	0	0	0	0	2	1	9.999997e-01	24	153	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.998831	0.990000	1	9.900000e-01	1
HPS4	89781	broad.mit.edu	37	22	26859939	26859939	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26859939G>T	ENST00000398145.2	-	11	2273	c.1657C>A	c.(1657-1659)Ctg>Atg	p.L553M	HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Missense_Mutation_p.L548M|HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4			32					AGCAGGGACAGCACCAGCCCT	0.617000									Hermansky-Pudlak syndrome															0							SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	ENST00000398145.2	1	1	hg19	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407513	0.62399	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.27	4.25	0.50352	.	0.000000	0.64402	D	0.000007	T	0.47893	0.1470	M	0.77103	2.36	0.30626	N	0.758025	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999	T	0.52601	-0.8554	10	0.87932	D	0	-12.515	8.5227	0.33287	0.176:0.0:0.824:0.0	.	553;553;553;553;566;548	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	M	553;566;548;553	ENSP00000381213:L553M;ENSP00000381210:L566M;ENSP00000384185:L548M;ENSP00000338457:L553M	ENSP00000338457:L553M	L	-	1	2	HPS4	25189939	1.000000	0.71417	0.999000	0.59377	0.673000	0.39480	2.519000	0.45546	2.461000	0.83175	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	0	0	0	9	271	0	59	1	6.487264e-01	2	64	0	59	2		0	0	0	0	0	2	1	9.937429e-01	9	265	0	59	2								-10.044770	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.410000	0.190000	1.000000	0.380000	0.471111	0.410000	0	2.900000e-01	6.200000e-01
HPS4	89781	broad.mit.edu	37	22	26860621	26860621	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26860621G>A	ENST00000398145.2	-	11	1591	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Silent_p.N320N|HPS4_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000398141.1_Silent_p.N338N	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4			32					ACAAGCATCCGTTCTCCTTCC	0.597000									Hermansky-Pudlak syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	ENST00000398145.2	1	1	hg19	CCDS13835.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	1	0	0	85	379	0	112	1	9.999997e-01	28	71	0	112	2		0	0	0	0	0	2	1	1	85	377	0	112	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HPS4	89781	broad.mit.edu	37	22	26861460	26861460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26861460G>T	ENST00000398145.2	-	10	1380	c.764C>A	c.(763-765)gCc>gAc	p.A255D	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.A250D|HPS4_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4			32					GAGACTAATGGCTTCCTCTTT	0.512000									Hermansky-Pudlak syndrome															0							SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	ENST00000398145.2	1	1	hg19	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614690	0.28712	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;D;T;T;D	0.88741	1.36;-2.42;1.36;1.36;-2.42	4.6	1.76	0.24704	.	1.063930	0.07167	N	0.851742	D	0.91026	0.7177	L	0.55481	1.735	0.09310	N	1	D;P;P;D;B;P	0.69078	0.997;0.944;0.944;0.997;0.413;0.944	D;P;P;D;B;P	0.64410	0.925;0.733;0.66;0.925;0.319;0.66	T	0.77640	-0.2512	10	0.36615	T	0.2	-6.8662	5.997	0.19499	0.4162:0.0:0.5838:0.0	.	255;255;255;255;268;250	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	D	255;268;250;255;273;273	ENSP00000381213:A255D;ENSP00000381210:A268D;ENSP00000384185:A250D;ENSP00000338457:A255D;ENSP00000415081:A273D	ENSP00000325840:A273D	A	-	2	0	HPS4	25191460	0.811000	0.29063	0.177000	0.23020	0.024000	0.10985	1.182000	0.32029	0.262000	0.21774	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	1	0	1	60	277	0	67	1	9.999831e-01	28	49	0	67	2		0	0	0	0	0	2	1	1	60	271	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRRD	402055	broad.mit.edu	37	22	26887573	26887573	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26887573T>C	ENST00000215917.7	+	7	969	c.955T>C	c.(955-957)Tat>Cat	p.Y319H	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing			4					AGAACCAGATTATCAGGACTG	0.443000																								0							SO:0001583	missense			ENST00000215917.7	1	1	hg19	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089490	0.76756	.	.	ENSG00000100104	ENST00000215917	T	0.62788	-0.0	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83602	0.0129	10	0.87932	D	0	-21.2371	14.7198	0.69297	0.0:0.0:0.0:1.0	.	319;312	Q9UH36;B4DF37	SRR1L_HUMAN;.	H	319	ENSP00000215917:Y319H	ENSP00000215917:Y319H	Y	+	1	0	SRRD	25217573	1.000000	0.71417	0.036000	0.18154	0.989000	0.77384	5.459000	0.66685	2.251000	0.74343	0.528000	0.53228	TAT		TCGA-IB-7651-01A-11D-2154-08	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	0	0	0	12	307	0	67	1	9.547591e-01	7	130	0	67	2		0	0	0	0	0	2	1	9.990762e-01	12	302	0	67	2								-13.277830	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.470000	0.250000	1.000000	0.440000	0.525161	0.470000	0	3.400000e-01	6.800000e-01
TFIP11	24144	broad.mit.edu	37	22	26888122	26888122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26888122C>T	ENST00000407690.1	-	15	2654	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I	SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11			25					TTCCCAATGACGGGCATGAAG	0.562000																								0							SO:0001583	missense			ENST00000407690.1	1	1	hg19	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	1.865	-0.461641	0.04508	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.39	4.38	0.52667	.	0.319967	0.34986	N	0.003532	T	0.19127	0.0459	N	0.03154	-0.405	0.36149	D	0.8473	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.12426	-1.0548	10	0.28530	T	0.3	-46.7661	9.261	0.37612	0.0:0.7793:0.1446:0.0761	.	791;150	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	I	791;791;791;476;791	ENSP00000384421:V791I;ENSP00000383892:V791I;ENSP00000385861:V791I;ENSP00000384297:V791I	ENSP00000384297:V791I	V	-	1	0	TFIP11	25218122	0.151000	0.22747	0.899000	0.35326	0.894000	0.52154	0.442000	0.21628	1.515000	0.48885	-0.137000	0.14449	GTC		TCGA-IB-7651-01A-11D-2154-08	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	1	0	1	55	223	0	50	1	1	84	166	0	50	2		0	0	0	0	0	2	1	1	55	220	0	50	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFIP11	24144	broad.mit.edu	37	22	26902834	26902834	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26902834C>T	ENST00000407690.1	-	5	553	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TFIP11_ENST00000405938.1_Silent_p.A90A|TFIP11_ENST00000407431.1_Silent_p.A90A|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.A90A	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11			25					CTGCCTCCTCCGCTGCCCCTT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000407690.1	1	1	hg19	CCDS13838.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	1	0	1	43	416	0	85	1	9.999989e-01	29	169	0	85	2		0	0	0	0	0	2	1	1	41	409	0	85	2								-2.920853	1	1	121412	4	38	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.820000	1.000000	1.000000	0.982932	0.990000	1	9.600000e-01	1
TPST2	8459	broad.mit.edu	37	22	26937351	26937351	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26937351C>T	ENST00000338754.4	-	3	516	c.246G>A	c.(244-246)acG>acA	p.T82T	TPST2_ENST00000398110.2_Silent_p.T82T|TPST2_ENST00000403880.1_Silent_p.T82T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2			7					CGCGCATCAACGTGGTGCCAC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000338754.4	1	1	hg19	CCDS13839.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	1	0	1	42	160	0	36	1	9.924972e-01	5	27	0	36	2		0	0	0	0	0	2	1	1	42	158	0	36	2								-20.000000	1	1	120688	11	39	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRYBA4	1413	broad.mit.edu	37	22	27021478	27021478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:27021478G>A	ENST00000354760.3	+	4	227	c.192G>A	c.(190-192)ggG>ggA	p.G64G	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4			18					GCTTCCAAGGGCAGCAGTACA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000354760.3	1	1	hg19	CCDS13841.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	1	0	1	181	835	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	1	177	825	0	151	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MN1	4330	broad.mit.edu	37	22	28193583	28193583	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193583G>A	ENST00000302326.4	-	1	3903	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1			45					CGACGGCTGCGCCTGACGCTT	0.706000			T	ETV6	AML, meningioma										Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0							SO:0001819	synonymous_variant			ENST00000302326.4	1	1	hg19	CCDS42998.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	0	28	128	0	29	0	0	0	1	0	29	2		0	0	0	0	0	2	1	1	27	126	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
MN1	4330	broad.mit.edu	37	22	28193973	28193973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193973C>T	ENST00000302326.4	-	1	3513	c.2559G>A	c.(2557-2559)ccG>ccA	p.P853P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1			45					TGCCCTCTGGCGGGTTCTTCT	0.652000			T	ETV6	AML, meningioma										Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0							SO:0001819	synonymous_variant			ENST00000302326.4	1	1	hg19	CCDS42998.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	0	163	676	1	130	0	9.054703e-01	1	18	1	130	2		0	0	0	0	0	2	1	1	160	660	0	121	2								-3.263969	1	1	120828	2	33	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MN1	4330	broad.mit.edu	37	22	28195094	28195094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28195094C>T	ENST00000302326.4	-	1	2392	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1			45					TCCAGAGCGCCGTTGTGCATG	0.682000			T	ETV6	AML, meningioma										Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0							SO:0001583	missense			ENST00000302326.4	1	1	hg19	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100381	0.56183	.	.	ENSG00000169184	ENST00000302326	T	0.45668	0.89	4.54	4.54	0.55810	.	0.220885	0.31156	N	0.008158	T	0.21962	0.0529	N	0.14661	0.345	0.27568	N	0.94996	P	0.38300	0.626	B	0.29267	0.1	T	0.10520	-1.0626	10	0.25751	T	0.34	-14.7531	12.6665	0.56846	0.0:0.8326:0.1674:0.0	.	480	Q10571	MN1_HUMAN	S	480	ENSP00000304956:G480S	ENSP00000304956:G480S	G	-	1	0	MN1	26525094	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	2.263000	0.43293	2.074000	0.62210	0.313000	0.20887	GGC		TCGA-IB-7651-01A-11D-2154-08	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	0	28	134	0	33	0	8.157965e-01	0	17	0	33	2		0	0	0	0	0	2	1	1	25	133	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
MN1	4330	broad.mit.edu	37	22	28196327	28196327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196327C>T	ENST00000302326.4	-	1	1159	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1			45					GCGTGGAAGCCGTAGGGCTCC	0.701000			T	ETV6	AML, meningioma										Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0							SO:0001583	missense			ENST00000302326.4	1	1	hg19	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697807	0.88830	.	.	ENSG00000169184	ENST00000302326	T	0.72725	-0.68	4.87	4.87	0.63330	.	0.060842	0.64402	D	0.000004	T	0.75191	0.3816	L	0.29908	0.895	0.53688	D	0.99997	D	0.76494	0.999	D	0.63033	0.91	T	0.78947	-0.2003	10	0.87932	D	0	-15.6058	16.9428	0.86222	0.0:1.0:0.0:0.0	.	69	Q10571	MN1_HUMAN	S	69	ENSP00000304956:G69S	ENSP00000304956:G69S	G	-	1	0	MN1	26526327	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.882000	0.63121	2.400000	0.81607	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	0	68	289	0	58	0	5.970391e-01	1	9	0	58	2		0	0	0	0	0	2	1	1	68	286	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MN1	4330	broad.mit.edu	37	22	28196482	28196482	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196482C>T	ENST00000302326.4	-	1	1004	c.50G>A	c.(49-51)gGc>gAc	p.G17D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1			45					CTCGCCCTGGCCAGCGTTCCT	0.622000			T	ETV6	AML, meningioma										Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0							SO:0001583	missense			ENST00000302326.4	1	1	hg19	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889768	0.72524	.	.	ENSG00000169184	ENST00000302326	T	0.72051	-0.62	4.6	4.6	0.57074	.	0.060889	0.64402	D	0.000005	T	0.74959	0.3785	L	0.27053	0.805	0.53005	D	0.99996	D	0.67145	0.996	D	0.67725	0.953	T	0.79220	-0.1893	10	0.87932	D	0	-16.2213	16.3356	0.83059	0.0:1.0:0.0:0.0	.	17	Q10571	MN1_HUMAN	D	17	ENSP00000304956:G17D	ENSP00000304956:G17D	G	-	2	0	MN1	26526482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.894000	0.75655	2.249000	0.74217	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	0	0	0	10	289	0	53	0	1.054247e-01	0	15	0	53	2		0	0	0	0	0	2	1	9.968002e-01	10	285	0	53	2								-10.718120	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.420000	0.210000	1.000000	0.390000	0.482965	0.420000	0	3.000000e-01	6.300000e-01
PITPNB	23760	broad.mit.edu	37	22	28269748	28269748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28269748C>T	ENST00000335272.5	-	8	588	c.512G>A	c.(511-513)gGc>gAc	p.G171D	PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta			8					TCCCAAAGGGCCTCTCTTGGT	0.488000																								0							SO:0001583	missense			ENST00000335272.5	1	1	hg19	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344218	0.82022	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.7	4.68	0.58851	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	H	0.96861	3.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89831	0.3996	10	0.87932	D	0	-30.9357	13.5209	0.61568	0.0:0.9246:0.0:0.0754	.	173;171;171	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	D	171;171;173;98	ENSP00000334738:G171D;ENSP00000321266:G171D;ENSP00000405179:G173D;ENSP00000406542:G98D	ENSP00000321266:G171D	G	-	2	0	PITPNB	26599748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.081000	0.71309	1.410000	0.46936	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1	1	0	1	36	131	0	47	1	1	66	193	0	47	2		0	0	0	0	0	2	1	1	35	127	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC117	150275	broad.mit.edu	37	22	29182081	29182081	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29182081C>T	ENST00000249064.4	+	5	783	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	CCDC117_ENST00000448492.2_Missense_Mutation_p.R185C|CCDC117_ENST00000443309.2_Missense_Mutation_p.R71C|CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117			7					TCTTAGGAGCCGTCCTTCCAT	0.398000																								0							SO:0001583	missense			ENST00000249064.4	1	1	hg19	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667348	0.88348	.	.	ENSG00000159873	ENST00000249064;ENST00000448492;ENST00000421503;ENST00000443309	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.94	5.94	0.96194	.	0.057185	0.64402	D	0.000001	T	0.34745	0.0908	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02269	-1.1185	10	0.87932	D	0	.	19.3473	0.94370	0.0:1.0:0.0:0.0	.	128;185;203	B7Z2V1;B7Z860;Q8IWD4	.;.;CC117_HUMAN	C	203;185;128;71	ENSP00000249064:R203C;ENSP00000389478:R185C;ENSP00000387827:R128C;ENSP00000399363:R71C	ENSP00000249064:R203C	R	+	1	0	CCDC117	27512081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.000000	0.63940	2.816000	0.96949	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	0	0	0	12	286	0	44	1	8.928828e-01	7	89	0	44	2		0	0	0	0	0	2	1	9.990364e-01	12	279	0	44	2								-2.960920	1	1	121412	1	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.500000	0.270000	1.000000	0.470000	0.554626	0.500000	0	3.700000e-01	7.200000e-01
ZNRF3	84133	broad.mit.edu	37	22	29445738	29445738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29445738C>T	ENST00000544604.2	+	8	1744	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	ZNRF3_ENST00000406323.3_Silent_p.S423S|ZNRF3_ENST00000402174.1_Silent_p.S423S|ZNRF3_ENST00000332811.4_Silent_p.S423S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3			28					ACCTGGAGAGCGGCAGCACGT	0.711000																								0							SO:0001819	synonymous_variant			ENST00000544604.2	0	1	hg19	CCDS56225.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	0	0	0	8	187	0	30	0	6.666929e-03	0	3	0	30	2		0	0	0	0	0	2	1	9.893773e-01	8	185	0	30	2								-10.440890	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.530000	0.240000	1.000000	0.470000	0.574765	0.530000	0	3.600000e-01	8.000000e-01
ZNRF3	84133	broad.mit.edu	37	22	29446300	29446300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446300G>A	ENST00000544604.2	+	8	2306	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3			28					GCCGTCGTGTGCCTGCTGCTG	0.697000																								0							SO:0001583	missense			ENST00000544604.2	1	1	hg19	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	9.245	1.039167	0.19669	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.01	-0.87	0.10646	.	0.391529	0.31721	N	0.007180	T	0.71108	0.3301	L	0.45581	1.43	0.26122	N	0.980535	B	0.18863	0.031	B	0.13407	0.009	T	0.56214	-0.8016	10	0.26408	T	0.33	-15.1449	6.8353	0.23933	0.2316:0.2021:0.5663:0.0	.	711	Q9ULT6	ZNRF3_HUMAN	T	711;611;418;611;611	ENSP00000443824:A711T;ENSP00000328614:A611T;ENSP00000384456:A611T;ENSP00000384553:A611T	ENSP00000328614:A611T	A	+	1	0	ZNRF3	27776300	0.995000	0.38212	0.990000	0.47175	0.411000	0.31082	1.868000	0.39509	0.515000	0.28320	-0.140000	0.14226	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	1	0	0	38	148	0	36	1	5.809434e-01	3	6	0	36	2		0	0	0	0	0	2	1	1	38	144	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNRF3	84133	broad.mit.edu	37	22	29446426	29446426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446426G>A	ENST00000544604.2	+	8	2432	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3			28					GCCCCAGTCAGGAAGCTCCCA	0.657000																								0							SO:0001583	missense			ENST00000544604.2	1	1	hg19	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664858	0.29604	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.07	4.05	0.47172	.	0.507057	0.20123	N	0.098748	T	0.80649	0.4663	L	0.51422	1.61	0.20489	N	0.999896	D	0.61697	0.99	P	0.58780	0.845	T	0.71497	-0.4575	10	0.87932	D	0	-6.7721	9.2661	0.37641	0.1644:0.0:0.8356:0.0	.	753	Q9ULT6	ZNRF3_HUMAN	R	753;653;460;653;653	ENSP00000443824:G753R;ENSP00000328614:G653R;ENSP00000384456:G653R;ENSP00000384553:G653R	ENSP00000328614:G653R	G	+	1	0	ZNRF3	27776426	0.999000	0.42202	0.053000	0.19242	0.075000	0.17131	3.091000	0.50199	1.267000	0.44247	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	1	0	0	50	169	0	54	1	7.037769e-01	3	7	0	54	2		0	0	0	0	0	2	1	1	48	166	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C22orf31	25770	broad.mit.edu	37	22	29455169	29455169	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29455169C>T	ENST00000216071.4	-	3	485	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31			27					ACTTTCTTTACTCTAGCCAGG	0.458000																								0							SO:0001630	splice_region_variant			ENST00000216071.4	0	1	hg19	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768448	0.49680	.	.	ENSG00000100249	ENST00000216071	T	0.37058	1.22	5.64	4.63	0.57726	.	0.427481	0.24094	N	0.041604	T	0.27169	0.0666	L	0.27053	0.805	0.27086	N	0.962966	B	0.19073	0.033	B	0.26202	0.067	T	0.18272	-1.0342	10	0.45353	T	0.12	-2.0501	10.3455	0.43903	0.0:0.9126:0.0:0.0874	.	145	O95567	CV031_HUMAN	N	145	ENSP00000216071:S145N	ENSP00000216071:S145N	S	-	2	0	C22orf31	27785169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.988000	0.40697	1.628000	0.50416	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	0	0	0	18	410	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.999810e-01	18	405	0	78	2								-18.138620	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.520000	0.310000	1.000000	0.490000	0.565928	0.520000	0	4.000000e-01	7.000000e-01
KREMEN1	83999	broad.mit.edu	37	22	29517357	29517357	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29517357T>G	ENST00000407188.1	+	4	359	c.359T>G	c.(358-360)cTt>cGt	p.L120R	KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000400338.2_Missense_Mutation_p.L122R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1			20					CCTGGAAACCTTGGCTGCTAC	0.423000																								0							SO:0001583	missense			ENST00000407188.1	1	1	hg19	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134638	0.77662	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.14	5.14	0.70334	Carbohydrate-binding WSC (2);Kringle (1);Kringle-like fold (1);	0.000000	0.52532	D	0.000065	T	0.74291	0.3697	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.73720	-0.3894	10	0.31617	T	0.26	.	13.2238	0.59903	0.0:0.0:0.0:1.0	.	120;122;122	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	R	122;122;122;120	ENSP00000383189:L122R;ENSP00000383192:L122R;ENSP00000331242:L122R;ENSP00000385431:L120R	ENSP00000331242:L122R	L	+	2	0	KREMEN1	27847357	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.474000	0.81024	2.075000	0.62263	0.460000	0.39030	CTT		TCGA-IB-7651-01A-11D-2154-08	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1	0	0	1	99	414	0	81	1	9.979403e-01	9	32	0	81	2		0	0	0	0	0	2	1	1	99	402	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KREMEN1	83999	broad.mit.edu	37	22	29533635	29533635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29533635G>A	ENST00000407188.1	+	6	931	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000400338.2_Missense_Mutation_p.A313T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1			20					CATCAATCAGGCCCAGGGATT	0.532000																								0							SO:0001583	missense			ENST00000407188.1	1	1	hg19	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	G	31	5.079085	0.94050	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000009	T	0.45617	0.1351	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.87578	0.997;0.998;0.993	T	0.38950	-0.9637	10	0.59425	D	0.04	.	16.1477	0.81583	0.0:0.0:1.0:0.0	.	311;313;313	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	T	313;313;313;311	ENSP00000383189:A313T;ENSP00000383192:A313T;ENSP00000331242:A313T;ENSP00000385431:A311T	ENSP00000331242:A313T	A	+	1	0	KREMEN1	27863635	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.417000	0.97391	2.507000	0.84556	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1	1	0	1	36	172	0	47	1	9.905577e-01	15	22	0	47	2		0	0	0	0	0	2	1	1	36	167	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
EWSR1	2130	broad.mit.edu	37	22	29674083	29674083	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29674083T>G	ENST00000397938.2	+	5	610	c.291T>G	c.(289-291)gcT>gcG	p.A97A	EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000333395.6_Silent_p.A97A|EWSR1_ENST00000332050.6_Silent_p.A97A|EWSR1_ENST00000332035.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	26					GCACTGGTGCTTATGATACCA	0.552000			T	FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1	Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma										Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		L, M	0							SO:0001819	synonymous_variant			ENST00000397938.2	1	1	hg19	CCDS13851.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	1	0	1	49	175	0	39	1	1	131	311	0	39	2		0	0	0	0	0	2	1	1	48	171	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EWSR1	2130	broad.mit.edu	37	22	29678381	29678381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29678381C>T	ENST00000397938.2	+	6	735	c.416C>T	c.(415-417)cCg>cTg	p.P139L	EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L|EWSR1_ENST00000333395.6_Missense_Mutation_p.P139L|EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	26					CCTCTTAGACCGCAGGATGGA	0.423000			T	FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1	Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma										Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		L, M	0							SO:0001583	missense			ENST00000397938.2	0	1	hg19	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351763	0.41700	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395	D;D;D;D;D	0.96967	-3.93;-3.46;-3.63;-4.19;-3.65	5.05	5.05	0.67936	.	0.225469	0.29253	U	0.012683	D	0.96676	0.8915	L	0.31065	0.9	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.913;0.996;0.913;0.96	D	0.97243	0.9892	10	0.52906	T	0.07	.	18.3604	0.90372	0.0:1.0:0.0:0.0	.	139;145;139;139	Q96FE8;Q96MX4;Q01844;Q9BWA2	.;.;EWS_HUMAN;.	L	139;139;146;145;139;140;64;139;145;139	ENSP00000330896:P139L;ENSP00000381031:P139L;ENSP00000385726:P139L;ENSP00000330516:P139L;ENSP00000400142:P145L	ENSP00000330516:P139L	P	+	2	0	EWSR1	28008381	1.000000	0.71417	0.969000	0.41365	0.242000	0.25591	5.583000	0.67484	2.490000	0.84030	0.557000	0.71058	CCG		TCGA-IB-7651-01A-11D-2154-08	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	0	0	1	11	73	0	17	1	1	91	312	0	17	2		0	0	0	0	0	2	1	9.986236e-01	10	73	0	17	2								-8.261610	1	1	121352	4	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.840000	1.000000	1.000000	0.990869	0.990000	1	9.900000e-01	1
AP1B1	162	broad.mit.edu	37	22	29727889	29727889	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29727889C>T	ENST00000405198.1	-	17	2357	c.2326G>A	c.(2326-2328)Gcc>Acc	p.A776T	AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T|AP1B1_ENST00000357586.2_Missense_Mutation_p.A776T|AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit			22					AGGGGGGTGGCGGGGGCCAGG	0.667000																								0							SO:0001583	missense			ENST00000405198.1	1	1	hg19	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842665	0.32606	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.58	3.57	0.40892	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.098822	0.64402	N	0.000001	T	0.48132	0.1483	M	0.76002	2.32	0.80722	D	1	B;B;B;B;B	0.19073	0.028;0.005;0.005;0.033;0.012	B;B;B;B;B	0.19946	0.027;0.013;0.013;0.021;0.013	T	0.49570	-0.8926	10	0.44086	T	0.13	-20.8288	12.3414	0.55095	0.0:0.917:0.0:0.083	.	329;749;769;776;769	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	T	776;769;769;776;749;769;769	ENSP00000350199:A776T;ENSP00000348297:A769T;ENSP00000400065:A769T;ENSP00000384194:A776T;ENSP00000319361:A749T;ENSP00000386071:A769T;ENSP00000387612:A769T	ENSP00000319361:A749T	A	-	1	0	AP1B1	28057889	0.986000	0.35501	1.000000	0.80357	0.013000	0.08279	2.087000	0.41653	1.167000	0.42706	-0.258000	0.10820	GCC		TCGA-IB-7651-01A-11D-2154-08	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	1	0	1	66	248	0	48	1	1	41	364	0	48	2		0	0	0	0	0	2	1	1	67	246	0	45	2								-3.655162	1	0	121398	2	31	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFPL1	5988	broad.mit.edu	37	22	29835141	29835141	+	Missense_Mutation	SNP	C	C	T	rs142648482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29835141C>T	ENST00000354373.2	+	1	570	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1			16					CCCAAGGATGCGGAAGTTCCA	0.517000																								0							SO:0001583	missense			ENST00000354373.2	0	1	hg19	CCDS13857.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	-	12.19	1.864452	0.32977	0.003631	0.0	ENSG00000128250	ENST00000354373	T	0.29397	1.57	1.66	-1.98	0.07480	Concanavalin A-like lectin/glucanase (1);RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.21881	0.0527	L	0.41824	1.3	0.09310	N	1	P	0.38863	0.65	B	0.40565	0.333	T	0.17471	-1.0368	9	0.66056	D	0.02	.	2.496	0.04621	0.2789:0.5142:0.0:0.2068	.	121	O75677	RFPL1_HUMAN	W	121	ENSP00000346342:R121W	ENSP00000346342:R121W	R	+	1	2	RFPL1	28165141	0.000000	0.05858	0.001000	0.08648	0.503000	0.33858	-1.324000	0.02690	-0.584000	0.05913	0.418000	0.28097	CGG		TCGA-IB-7651-01A-11D-2154-08	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	0	0	0	13	642	0	142	0	4.626313e-03	0	5	0	142	2		0	0	0	0	0	2	1	9.994759e-01	13	630	0	139	2								-2.462064	0	1	121412	50	51	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.240000	0.130000	1.000000	0.230000	0.323821	0.240000	0	1.800000e-01	3.600000e-01
NEFH	4744	broad.mit.edu	37	22	29881809	29881809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29881809C>T	ENST00000310624.6	+	3	1214	c.1181C>T	c.(1180-1182)gCt>gTt	p.A394V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide			30					GTCAAGATGGCTCTGGATATA	0.547000																								0							SO:0001583	missense			ENST00000310624.6	1	1	hg19	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793327	0.90453	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.90900	-2.75	5.67	5.67	0.87782	Filament (1);	0.278833	0.25720	N	0.028746	D	0.96728	0.8932	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97172	0.9845	10	0.87932	D	0	.	19.8245	0.96612	0.0:1.0:0.0:0.0	.	394	P12036	NFH_HUMAN	V	394	ENSP00000311997:A394V	ENSP00000311997:A394V	A	+	2	0	NEFH	28211809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.692000	0.91855	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	1	0	1	53	254	0	68	0	8.185007e-02	0	3	0	68	2		0	0	0	0	0	2	1	1	52	244	0	67	2								-3.278972	1	1	121412	2	32	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEFH	4744	broad.mit.edu	37	22	29886650	29886650	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29886650T>A	ENST00000310624.6	+	4	3054	c.3021T>A	c.(3019-3021)ccT>ccA	p.P1007P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide			30					ACAGCAAGCCTCCAGAGAAGG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000310624.6	1	1	hg19	CCDS13858.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	1	0	1	52	176	0	50	0	7.031618e-01	0	10	0	50	2		0	0	0	0	0	2	1	1	49	170	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THOC5	8563	broad.mit.edu	37	22	29913321	29913321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29913321C>A	ENST00000490103.1	-	16	1646	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5			21					GGAAGAGGTACTGGCAATCAC	0.478000																								0							SO:0001583	missense			ENST00000490103.1	1	1	hg19	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957691	0.73902	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.81	3.67	0.42095	.	0.152728	0.64402	N	0.000015	T	0.32971	0.0847	M	0.62723	1.935	0.51482	D	0.999928	D	0.56521	0.976	P	0.49999	0.628	T	0.04229	-1.0967	10	0.44086	T	0.13	-26.8255	9.7427	0.40429	0.0:0.661:0.269:0.07	.	508	Q13769	THOC5_HUMAN	H	508	ENSP00000420306:Q508H;ENSP00000380970:Q508H;ENSP00000380969:Q508H;ENSP00000380971:Q508H	ENSP00000380969:Q508H	Q	-	3	2	THOC5	28243321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.071000	0.41500	0.752000	0.32923	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	1	0	1	28	104	0	35	1	9.999967e-01	14	67	0	35	2		0	0	0	0	0	2	1	1	28	103	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZMAT5	55954	broad.mit.edu	37	22	30144499	30144499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30144499C>T	ENST00000344318.3	-	2	151	c.35G>A	c.(34-36)cGc>cAc	p.R12H	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R12H	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5			3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)		CTGGAAGGAGCGGTCGCAGTA	0.567000																								0							SO:0001583	missense			ENST00000344318.3	0	1	hg19	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320312	0.95682	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.36	5.36	0.76844	Zinc finger, U1-C type (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81127	-0.1074	9	0.72032	D	0.01	-32.7094	16.2369	0.82380	0.0:1.0:0.0:0.0	.	12	Q9UDW3	ZMAT5_HUMAN	H	12	.	ENSP00000344241:R12H	R	-	2	0	ZMAT5	28474499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.664000	0.68045	2.518000	0.84900	0.511000	0.50034	CGC		TCGA-IB-7651-01A-11D-2154-08	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	0	0	1	27	284	1	57	1	8.102336e-01	25	151	1	57	12		0	0	0	0	0	2	1	9.368239e-01	27	283	1	57	18								-9.509459	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.700000	1.000000	1.000000	0.952483	0.990000	1	8.600000e-01	1
ASCC2	84164	broad.mit.edu	37	22	30186501	30186501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30186501C>A	ENST00000397771.2	-	20	2236	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2			18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		TCTGCCTTCTCTCTCAGCACT	0.587000																								0							SO:0001587	stop_gained			ENST00000397771.2	0	1	hg19	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817971	0.98507	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-30.8065	18.5398	0.91023	0.0:1.0:0.0:0.0	.	.	.	.	X	687;687;611	.	ENSP00000305502:E687X	E	-	1	0	ASCC2	28516501	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.714000	0.74692	2.713000	0.92767	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	1	0	1	41	210	0	55	1	1	46	196	0	55	2		0	0	0	0	0	2	1	1	39	209	0	55	2								-2.914721	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ASCC2	84164	broad.mit.edu	37	22	30212055	30212055	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30212055G>T	ENST00000397771.2	-	7	726	c.549C>A	c.(547-549)atC>atA	p.I183I	ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Silent_p.I183I|ASCC2_ENST00000542393.1_Silent_p.I107I			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2			18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		GCTGTGTAAAGATGTTTCCTA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000397771.2	0	1	hg19	CCDS13869.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	1	0	1	9	43	0	12	1	9.999486e-01	40	72	0	12	2		0	0	0	0	0	2	1	9.951997e-01	9	42	0	12	2								-17.704260	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.970000	1.000000	1.000000	0.996362	0.990000	1	9.900000e-01	1
LIF	3976	broad.mit.edu	37	22	30640766	30640766	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30640766G>A	ENST00000249075.3	-	2	331	c.176C>T	c.(175-177)gCc>gTc	p.A59V	RP1-102K2.8_ENST00000608354.1_RNA|LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor			7			Epithelial(10;0.171)		GAGGGCATTGGCACTGCCATT	0.532000																								0							SO:0001583	missense			ENST00000249075.3	1	1	hg19	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735491	0.89482	.	.	ENSG00000128342	ENST00000249075	T	0.80393	-1.37	4.56	4.56	0.56223	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.56097	D	0.000031	D	0.88760	0.6524	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90180	0.4242	10	0.87932	D	0	-38.7843	14.432	0.67257	0.0:0.0:1.0:0.0	.	59	P15018	LIF_HUMAN	V	59	ENSP00000249075:A59V	ENSP00000249075:A59V	A	-	2	0	LIF	28970766	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.574000	0.53863	2.226000	0.72624	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	1	0	1	57	224	0	58	1	9.999664e-01	18	45	0	58	2		0	0	0	0	0	2	1	1	57	223	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D10A	83874	broad.mit.edu	37	22	30689795	30689795	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30689795C>T	ENST00000215790.7	-	8	1060		c.e8-1		RP1-130H16.18_ENST00000447976.1_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site|TBC1D10A_ENST00000403477.3_Splice_Site	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A			23					ATCTTGACCCCTGCATGGGGG	0.612000																								0							SO:0001630	splice_region_variant			ENST00000215790.7	1	1	hg19	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279871	0.80692	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2857	0.90113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBC1D10A;RP1-130H16.18	29019795	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.037000	0.70956	2.746000	0.94184	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	1	0	1	72	334	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1	71	327	0	60	2								-2.983521	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SF3A1	10291	broad.mit.edu	37	22	30735152	30735152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30735152G>A	ENST00000215793.8	-	10	1618	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SF3A1_ENST00000439242.1_Silent_p.I423I	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa			29					CCTCCTCACCGATCTTCTTAC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000215793.8	1	1	hg19	CCDS13875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	1	0	1	142	694	0	145	1	1	89	249	0	145	2		0	0	0	0	0	2	1	1	138	682	0	143	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SF3A1	10291	broad.mit.edu	37	22	30737858	30737858	+	Silent	SNP	G	G	T	rs36085017	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30737858G>T	ENST00000215793.8	-	7	1048	c.894C>A	c.(892-894)ccC>ccA	p.P298P	SF3A1_ENST00000439242.1_Silent_p.P233P	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa			29					CTGGCGTGGTGGGGGGAGGGA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000215793.8	0	1	hg19	CCDS13875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	0	0	0	10	293	0	79	1	9.978923e-01	22	301	0	79	2		0	0	0	0	0	2	1	9.965157e-01	10	284	0	79	2								-2.973759	1	1	121412	80	51	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.420000	0.210000	1.000000	0.380000	0.477979	0.420000	0	3.000000e-01	6.200000e-01
RNF215	200312	broad.mit.edu	37	22	30782666	30782666	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30782666T>C	ENST00000382363.3	-	2	442	c.368A>G	c.(367-369)cAg>cGg	p.Q123R		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215			6					CTGGTGGAACTGGGCCGCCTG	0.637000																								0							SO:0001583	missense			ENST00000382363.3	1	1	hg19	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951642	0.53186	.	.	ENSG00000099999	ENST00000382363;ENST00000431544	T	0.18338	2.22	4.14	1.8	0.24995	.	0.000000	0.31821	N	0.007003	T	0.09024	0.0223	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.20438	-1.0275	10	0.37606	T	0.19	-0.0969	8.0584	0.30619	0.0:0.0:0.4105:0.5895	.	123	Q9Y6U7	RN215_HUMAN	R	123;28	ENSP00000371800:Q123R	ENSP00000371800:Q123R	Q	-	2	0	RNF215	29112666	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	0.145000	0.16157	0.199000	0.20427	0.529000	0.55759	CAG		TCGA-IB-7651-01A-11D-2154-08	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	1	0	1	74	314	0	79	1	9.999436e-01	21	42	0	79	2		0	0	0	0	0	2	1	1	72	308	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC14L2	23541	broad.mit.edu	37	22	30805262	30805262	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30805262C>T	ENST00000312932.9	+	6	770	c.510C>T	c.(508-510)gcC>gcT	p.A170A	RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000403484.1_Silent_p.A96A|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000405717.3_Silent_p.A170A|SEC14L2_ENST00000402592.3_Silent_p.A87A	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)			10				Vitamin E(DB00163)	CTGTGGAGGCCTATggagagg	0.602000																								0							SO:0001819	synonymous_variant			ENST00000312932.9	1	1	hg19	CCDS13876.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	1	0	1	59	198	0	38	1	1	33	74	0	38	2		0	0	0	0	0	2	1	1	58	192	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC14L3	266629	broad.mit.edu	37	22	30856091	30856091	+	Missense_Mutation	SNP	C	C	T	rs142573310	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30856091C>T	ENST00000215812.4	-	12	1210	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000403066.1_Intron	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)			19				Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527000													Esophageal Squamous(108;290 1516 3584 23771 37333)											0							SO:0001583	missense			ENST00000215812.4	1	1	hg19	CCDS13877.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070140	0.36566	2.27E-4	9.3E-4	ENSG00000100012	ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.95	-0.882	0.10604	GOLD (2);	0.273852	0.41396	N	0.000882	T	0.26810	0.0656	N	0.25286	0.73	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08889	-1.0700	10	0.36615	T	0.2	-7.9929	13.8199	0.63313	0.0:0.901:0.0:0.099	.	297;374	E9PE57;Q9UDX4	.;S14L3_HUMAN	T	374;297;315;315;297	ENSP00000215812:A374T;ENSP00000385004:A297T;ENSP00000383896:A315T;ENSP00000444691:A315T;ENSP00000439752:A297T	ENSP00000215812:A374T	A	-	1	0	SEC14L3	29186091	0.001000	0.12720	0.684000	0.30055	0.984000	0.73092	-0.083000	0.11286	0.037000	0.15575	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	1	0	1	67	326	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	67	321	0	93	2								-4.345115	1	1	121412	29	48	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC14L3	266629	broad.mit.edu	37	22	30857366	30857366	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30857366G>A	ENST00000215812.4	-	11	1102	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000403066.1_Missense_Mutation_p.P279S	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)			19				Vitamin E(DB00163)	CGCTGGCTGGGTAGAACATCT	0.607000													Esophageal Squamous(108;290 1516 3584 23771 37333)											0							SO:0001583	missense			ENST00000215812.4	1	1	hg19	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709032	0.30322	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.67	-11.3	0.00108	GOLD (2);	0.636283	0.17380	N	0.176340	T	0.32285	0.0824	M	0.64170	1.965	0.38285	D	0.94253	B;B	0.21147	0.052;0.026	B;B	0.19148	0.024;0.024	T	0.14282	-1.0478	10	0.52906	T	0.07	-0.6816	7.647	0.28325	0.0575:0.4521:0.1795:0.311	.	261;338	E9PE57;Q9UDX4	.;S14L3_HUMAN	S	279;279;338;261;279;279;261	ENSP00000385941:P279S;ENSP00000401864:P279S;ENSP00000215812:P338S;ENSP00000385004:P261S;ENSP00000383896:P279S;ENSP00000444691:P279S;ENSP00000439752:P261S	ENSP00000215812:P338S	P	-	1	0	SEC14L3	29187366	0.000000	0.05858	0.018000	0.16275	0.652000	0.38707	-0.852000	0.04308	-1.970000	0.01003	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	1	0	1	77	359	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	78	354	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC14L4	284904	broad.mit.edu	37	22	30890926	30890926	+	Missense_Mutation	SNP	G	G	A	rs142766376	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30890926G>A	ENST00000255858.7	-	6	529	c.446C>T	c.(445-447)gCg>gTg	p.A149V	SEC14L4_ENST00000392772.2_Missense_Mutation_p.A95V|SEC14L4_ENST00000381982.3_Missense_Mutation_p.A149V|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V|RP4-539M6.14_ENST00000442126.1_RNA|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)			21				Vitamin E(DB00163)	CACCATCAGCGCCATCTCGAT	0.592000																								0							SO:0001583	missense			ENST00000255858.7	1	1	hg19	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	7.980	0.751077	0.15778	0.001135	0.0	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.95	2.8	0.32819	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.516723	0.20813	N	0.085214	T	0.44664	0.1304	N	0.03000	-0.44	0.24522	N	0.994152	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.27400	-1.0075	10	0.13853	T	0.58	-14.846	7.4929	0.27473	0.8194:0.0:0.1806:0.0	.	95;134;149	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	V	149;134;95;149	ENSP00000255858:A149V;ENSP00000440848:A134V;ENSP00000376525:A95V;ENSP00000371412:A149V	ENSP00000255858:A149V	A	-	2	0	SEC14L4	29220926	0.305000	0.24481	0.000000	0.03702	0.048000	0.14542	3.833000	0.55790	0.326000	0.23384	-0.373000	0.07131	GCG		TCGA-IB-7651-01A-11D-2154-08	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	1	0	1	82	330	0	76	1	3.446365e-01	3	3	0	76	2		0	0	0	0	0	2	1	1	82	324	0	74	2								-3.443740	1	1	121412	16	44	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAL3ST1	9514	broad.mit.edu	37	22	30951198	30951198	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951198G>A	ENST00000402321.1	-	3	1331	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N|GAL3ST1_ENST00000402369.1_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000401975.1_Silent_p.N338N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1			21					GCATGCGCTCGTTGGCATGGC	0.716000																								0							SO:0001819	synonymous_variant			ENST00000402321.1	1	1	hg19	CCDS13879.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	1	0	1	49	172	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	1	47	170	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAL3ST1	9514	broad.mit.edu	37	22	30951676	30951676	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951676G>A	ENST00000402321.1	-	3	853	c.536C>T	c.(535-537)cCg>cTg	p.P179L	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1			21					GGGCACCACCGGCCCGAAGTA	0.652000																								0							SO:0001583	missense			ENST00000402321.1	1	1	hg19	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304641	0.23736	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282	T;T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.25	4.02	0.46733	.	0.516617	0.20886	N	0.083911	T	0.04770	0.0129	N	0.02751	-0.505	0.21579	N	0.999634	B	0.06786	0.001	B	0.04013	0.001	T	0.41142	-0.9525	10	0.10636	T	0.68	-13.4125	8.4766	0.33016	0.0979:0.2798:0.6223:0.0	.	179	Q99999	G3ST1_HUMAN	L	179;179;179;179;179;179;179;179;180;179;179	ENSP00000385825:P179L;ENSP00000385735:P179L;ENSP00000384122:P179L;ENSP00000384388:P179L;ENSP00000343234:P179L;ENSP00000385207:P179L;ENSP00000402587:P179L;ENSP00000390545:P179L;ENSP00000395080:P180L;ENSP00000405017:P179L;ENSP00000401426:P179L	ENSP00000343234:P179L	P	-	2	0	GAL3ST1	29281676	0.006000	0.16342	0.044000	0.18714	0.959000	0.62525	1.643000	0.37217	2.462000	0.83206	0.491000	0.48974	CCG		TCGA-IB-7651-01A-11D-2154-08	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	1	0	1	99	423	0	83	1	9.999151e-01	25	35	0	83	2		0	0	0	0	0	2	1	1	99	416	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAL3ST1	9514	broad.mit.edu	37	22	30951867	30951867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951867G>A	ENST00000402321.1	-	3	662	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F|GAL3ST1_ENST00000402369.1_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000401975.1_Silent_p.F115F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1			21					TCGGGTAGTCGAAGTCATTGC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000402321.1	1	1	hg19	CCDS13879.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	1	0	0	53	601	0	118	1	9.817818e-01	17	56	0	118	2		0	0	0	0	0	2	1	1	53	585	0	116	2								-3.318794	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.970000	0.730000	1.000000	1.000000	0.939957	0.970000	1	8.400000e-01	1
PES1	23481	broad.mit.edu	37	22	30980611	30980611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30980611G>A	ENST00000405677.1	-	7	988	c.45C>T	c.(43-45)caC>caT	p.H15H	PES1_ENST00000354694.7_Silent_p.H154H|PES1_ENST00000335214.6_Silent_p.H154H|PES1_ENST00000402284.3_Silent_p.H154H|PES1_ENST00000402281.1_Silent_p.H15H	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1			29					TGGTCTGCACGTGGCACTTGC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000405677.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	1	0	1	31	143	0	33	1	1	75	171	0	33	2		0	0	0	0	0	2	1	1	30	142	0	33	2								-20.000000	1	1	121398	5	36	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TCN2	6948	broad.mit.edu	37	22	31008947	31008947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31008947C>A	ENST00000215838.3	+	3	839	c.345C>A	c.(343-345)aaC>aaA	p.N115K	TCN2_ENST00000405742.3_Missense_Mutation_p.N111K|TCN2_ENST00000407817.3_Splice_Site_p.N115K			P20062	TCO2_HUMAN	transcobalamin II			22				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGAGCCAACTGTGAGTTTG	0.597000																								0							SO:0001583	missense			ENST00000215838.3	1	1	hg19	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784339	0.49997	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.36520	2.62;2.62;1.25	5.41	5.41	0.78517	.	0.252999	0.45867	D	0.000331	T	0.56630	0.1998	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.999	D;D;D	0.70935	0.921;0.971;0.971	T	0.50499	-0.8821	10	0.18276	T	0.48	-35.3893	16.1181	0.81324	0.0:1.0:0.0:0.0	.	115;111;115	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	115;111;115	ENSP00000215838:N115K;ENSP00000385914:N111K;ENSP00000384914:N115K	ENSP00000215838:N115K	N	+	3	2	TCN2	29338947	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	2.753000	0.47524	2.541000	0.85698	0.655000	0.94253	AAC		TCGA-IB-7651-01A-11D-2154-08	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	1	60	255	0	64	1	1	10	191	0	64	2		0	0	0	0	0	2	1	1	59	248	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCN2	6948	broad.mit.edu	37	22	31011441	31011441	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011441G>T	ENST00000215838.3	+	5	1228	c.734G>T	c.(733-735)aGc>aTc	p.S245I	TCN2_ENST00000405742.3_Missense_Mutation_p.S241I|TCN2_ENST00000407817.3_Missense_Mutation_p.S218I			P20062	TCO2_HUMAN	transcobalamin II			22				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTACAGCACCCCATTG	0.597000																								0							SO:0001583	missense			ENST00000215838.3	1	1	hg19	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510442	0.64522	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.49139	0.79;0.79;0.79	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.75505	-0.3294	10	0.87932	D	0	-30.1398	17.0097	0.86403	0.0:0.0:1.0:0.0	.	218;241;245	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	I	245;241;218	ENSP00000215838:S245I;ENSP00000385914:S241I;ENSP00000384914:S218I	ENSP00000215838:S245I	S	+	2	0	TCN2	29341441	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.643000	0.67895	2.756000	0.94617	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	1	39	257	0	70	1	1	16	215	0	70	2		0	0	0	0	0	2	1	1	39	254	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999865	0.990000	1	9.900000e-01	1
TCN2	6948	broad.mit.edu	37	22	31011607	31011607	+	Missense_Mutation	SNP	T	T	A	rs113331651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011607T>A	ENST00000215838.3	+	6	1267	c.773T>A	c.(772-774)aTg>aAg	p.M258K	TCN2_ENST00000405742.3_Missense_Mutation_p.M254K|TCN2_ENST00000407817.3_Missense_Mutation_p.M231K			P20062	TCO2_HUMAN	transcobalamin II			22				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTCCCCCATGCGTGGGGCA	0.577000																								0							SO:0001583	missense			ENST00000215838.3	1	1	hg19	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	T	0.195	-1.050182	0.01981	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.32023	1.47;1.47;1.47	5.31	-7.28	0.01456	.	1.154450	0.05920	N	0.633364	T	0.14830	0.0358	L	0.31294	0.92	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.0	T	0.34775	-0.9815	10	0.06099	T	0.92	0.7059	5.9433	0.19205	0.1018:0.4803:0.1114:0.3065	.	231;254;258	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	258;254;231	ENSP00000215838:M258K;ENSP00000385914:M254K;ENSP00000384914:M231K	ENSP00000215838:M258K	M	+	2	0	TCN2	29341607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.590000	0.01623	-0.441000	0.05720	ATG		TCGA-IB-7651-01A-11D-2154-08	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	1	39	203	0	53	1	1	9	167	0	53	2		0	0	0	0	0	2	1	1	39	201	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TCN2	6948	broad.mit.edu	37	22	31011762	31011762	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011762C>A	ENST00000215838.3	+	6	1422	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	TCN2_ENST00000405742.3_Missense_Mutation_p.L306M|TCN2_ENST00000407817.3_Missense_Mutation_p.L283M			P20062	TCO2_HUMAN	transcobalamin II			22				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAGACTGTCTGGCACCACG	0.532000																								0							SO:0001583	missense			ENST00000215838.3	1	1	hg19	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969362	0.53614	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.35421	1.31;1.31;1.31	5.33	2.1	0.27182	.	0.995000	0.08159	N	0.988829	T	0.29158	0.0725	N	0.22421	0.69	0.49299	D	0.999773	P;B;B	0.49696	0.927;0.436;0.436	P;B;B	0.45343	0.477;0.189;0.189	T	0.08027	-1.0742	10	0.48119	T	0.1	-1.1978	8.6513	0.34035	0.0:0.6047:0.314:0.0813	.	283;306;310	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	M	310;306;283	ENSP00000215838:L310M;ENSP00000385914:L306M;ENSP00000384914:L283M	ENSP00000215838:L310M	L	+	1	2	TCN2	29341762	0.375000	0.25089	0.993000	0.49108	0.850000	0.48378	0.998000	0.29744	0.883000	0.36040	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	0	41	479	0	108	1	1	18	321	0	108	2		0	0	0	0	0	2	1	9.995770e-01	41	468	1	108	17								-11.213450	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.950000	0.690000	1.000000	1.000000	0.921745	0.950000	1	8.100000e-01	1
SLC35E4	339665	broad.mit.edu	37	22	31032960	31032960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31032960G>A	ENST00000343605.4	+	1	1322	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T|SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4			10					CCTGGGGGCCGCCTGCAGCCT	0.682000																								0							SO:0001583	missense			ENST00000343605.4	1	1	hg19	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412306	0.83340	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.16	5.16	0.70880	Drug/metabolite transporter (1);	0.115704	0.64402	D	0.000015	T	0.52581	0.1743	L	0.38175	1.15	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.59056	0.851;0.637	T	0.50524	-0.8818	10	0.44086	T	0.13	-13.2384	12.5429	0.56182	0.0:0.0:0.8333:0.1666	.	175;175	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	T	175;175;175;151	ENSP00000339626:A175T;ENSP00000300385:A175T;ENSP00000384377:A175T;ENSP00000413552:A151T	ENSP00000300385:A175T	A	+	1	0	SLC35E4	29362960	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.155000	0.58131	2.406000	0.81754	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	1	0	1	32	175	0	33	1	9.384536e-01	10	18	0	33	2		0	0	0	0	0	2	1	1	32	171	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
OSBP2	23762	broad.mit.edu	37	22	31091406	31091406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31091406C>T	ENST00000332585.6	+	1	614	c.510C>T	c.(508-510)ggC>ggT	p.G170G	OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000403222.3_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2			19					CGGGGACTGGCACGACCTCCA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000332585.6	1	1	hg19	CCDS43002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	1	0	1	66	304	0	90	1	2.961745e-01	5	1	0	90	2		0	0	0	0	0	2	1	1	65	301	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBP2	23762	broad.mit.edu	37	22	31289171	31289171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31289171G>A	ENST00000332585.6	+	9	2036	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*|OSBP2_ENST00000496575.1_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2			19					GGAGCCTCTGGCAGGAGATCA	0.592000																								0							SO:0001587	stop_gained			ENST00000332585.6	0	1	hg19	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.657238|6.657238	0.97739|0.97739	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|.	.|.	.|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.055783	.|0.85682	.|D	.|0.000000	T|.	0.45377|.	0.1339|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33266|.	-0.9875|.	4|.	.|0.02654	.|T	.|1	-11.9824|-11.9824	17.6971|17.6971	0.88285|0.88285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	316|478;471;644;595;643;277;386;188;275	.|.	.|ENSP00000332576:W644X	G|W	+|+	2|3	0|0	OSBP2|OSBP2	29619171|29619171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.443000|6.443000	0.73447|0.73447	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	1	0	1	45	184	0	48	0	8.220343e-01	0	15	0	48	2		0	0	0	0	0	2	1	1	43	181	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMTN	6525	broad.mit.edu	37	22	31483985	31483985	+	Missense_Mutation	SNP	G	G	A	rs145193216	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31483985G>A	ENST00000347557.2	+	3	304	c.86G>A	c.(85-87)cGc>cAc	p.R29H	SMTN_ENST00000333137.7_Missense_Mutation_p.R29H|SMTN_ENST00000358743.1_Missense_Mutation_p.R29H|SMTN_ENST00000475548.1_3'UTR	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin			25					GAGCGGCGGCGCATCCGCTCA	0.677000																								0							SO:0001583	missense			ENST00000347557.2	1	1	hg19	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190406	0.58017	.	.	ENSG00000183963	ENST00000432777;ENST00000422839;ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.8	3.78	0.43462	.	0.000000	0.35970	N	0.002864	T	0.32645	0.0836	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.23185	0.081;0.081;0.047;0.047;0.047;0.038	B;B;B;B;B;B	0.20384	0.029;0.029;0.029;0.029;0.029;0.017	T	0.18178	-1.0345	10	0.87932	D	0	-7.7084	9.594	0.39563	0.1598:0.0:0.8402:0.0	.	85;83;21;29;29;29	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	H	83;29;83;83;29;29;29;29;21;21	ENSP00000398663:R83H;ENSP00000390453:R29H;ENSP00000399432:R83H;ENSP00000401341:R83H;ENSP00000351593:R29H;ENSP00000328635:R29H;ENSP00000329532:R29H;ENSP00000394637:R21H	ENSP00000329393:R29H	R	+	2	0	SMTN	29813985	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	1.173000	0.42796	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	1	0	1	40	147	0	33	1	9.999995e-01	14	74	0	33	2		0	0	0	0	0	2	1	1	39	145	0	31	2								-20.000000	1	1	121280	2	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMTN	6525	broad.mit.edu	37	22	31484516	31484516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484516C>A	ENST00000347557.2	+	4	436	c.218C>A	c.(217-219)gCt>gAt	p.A73D	SMTN_ENST00000333137.7_Missense_Mutation_p.A73D|SMTN_ENST00000358743.1_Missense_Mutation_p.A73D|SMTN_ENST00000475548.1_3'UTR	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin			25					CAGCGGGAAGCTGAGCAGCGG	0.627000																								0							SO:0001583	missense			ENST00000347557.2	1	1	hg19	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.18|18.18	3.567316|3.567316	0.65651|0.65651	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	T;T;T;T;T;T|.	0.46819|.	0.86;0.88;0.95;0.95;0.95;0.95|.	4.79|4.79	3.66|3.66	0.41972|0.41972	.|.	0.000000|.	0.37761|.	N|.	0.001950|.	T|T	0.40119|0.40119	0.1104|0.1104	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;D;D;P;P|.	0.89917|.	0.999;0.906;1.0;1.0;0.906;0.939|.	D;P;D;D;P;P|.	0.87578|.	0.997;0.628;0.998;0.998;0.628;0.494|.	T|T	0.17228|0.17228	-1.0376|-1.0376	10|5	0.44086|.	T|.	0.13|.	-11.835|-11.835	12.1168|12.1168	0.53870|0.53870	0.251:0.749:0.0:0.0|0.251:0.749:0.0:0.0	.|.	129;127;65;73;73;73|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	D|R	127;127;73;73;73;73;65;65|127	ENSP00000399432:A127D;ENSP00000401341:A127D;ENSP00000351593:A73D;ENSP00000328635:A73D;ENSP00000329532:A73D;ENSP00000394637:A65D|.	ENSP00000329393:A73D|.	A|S	+|+	2|3	0|2	SMTN|SMTN	29814516|29814516	0.705000|0.705000	0.27846|0.27846	0.978000|0.978000	0.43139|0.43139	0.991000|0.991000	0.79684|0.79684	1.138000|1.138000	0.31491|0.31491	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	1	0	0	69	696	0	124	1	9.980405e-01	6	88	0	124	2		0	0	0	0	0	2	1	1	60	637	0	105	2								-18.207290	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.840000	1.000000	1.000000	0.983160	0.990000	1	9.500000e-01	1
SMTN	6525	broad.mit.edu	37	22	31484712	31484712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484712C>T	ENST00000347557.2	+	5	540	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_ENST00000333137.7_Missense_Mutation_p.R108C|SMTN_ENST00000358743.1_Missense_Mutation_p.R108C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin			25					GTATGAGGAGCGCAAGCTGAT	0.642000																								0							SO:0001583	missense			ENST00000347557.2	1	1	hg19	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.233178|4.233178	0.79688|0.79688	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000438223|ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481	.|T;T;T;T;T	.|0.73152	.|-0.72;-0.72;-0.72;-0.72;-0.72	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.38272	.|N	.|0.001743	T|T	0.72835|0.72835	0.3510|0.3510	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.999;0.997;0.999;0.999;0.999	T|T	0.71159|0.71159	-0.4674|-0.4674	5|9	.|.	.|.	.|.	-15.9456|-15.9456	13.2377|13.2377	0.59979|0.59979	0.1589:0.8411:0.0:0.0|0.1589:0.8411:0.0:0.0	.|.	.|164;162;100;108;108;108	.|E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.|.;.;.;.;SMTN_HUMAN;.	V|C	162|108;108;108;108;100;20;100	.|ENSP00000351593:R108C;ENSP00000328635:R108C;ENSP00000329532:R108C;ENSP00000409990:R20C;ENSP00000394637:R100C	.|.	A|R	+|+	2|1	0|0	SMTN|SMTN	29814712|29814712	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	2.703000|2.703000	0.47110|0.47110	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	1	0	1	28	94	0	29	1	1	16	92	0	29	2		0	0	0	0	0	2	1	1	28	94	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMTN	6525	broad.mit.edu	37	22	31494783	31494783	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31494783C>T	ENST00000347557.2	+	17	2508	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	SMTN_ENST00000333137.7_Missense_Mutation_p.R764C|SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000404574.1_Missense_Mutation_p.R287C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin			25					CTCCCAGGCGCGCAAGGCCAT	0.677000																								0							SO:0001583	missense			ENST00000347557.2	0	1	hg19	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626507	0.87560	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;D	0.94376	-0.51;-0.9;-0.9;1.41;-3.41	5.34	5.34	0.76211	.	0.000000	0.38272	N	0.001743	D	0.95306	0.8477	L	0.41492	1.28	0.80722	D	1	P;D;D;D;P;P;P;D	0.89917	0.936;0.971;1.0;1.0;0.828;0.876;0.828;0.962	P;P;D;D;B;P;B;P	0.83275	0.579;0.558;0.996;0.996;0.254;0.579;0.254;0.631	D	0.95709	0.8756	10	0.87932	D	0	-12.395	19.4284	0.94754	0.0:1.0:0.0:0.0	.	820;849;144;287;787;764;764;764	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	C	764;764;764;762;787;165;287;144	ENSP00000351593:R764C;ENSP00000328635:R764C;ENSP00000329532:R764C;ENSP00000392329:R165C;ENSP00000383919:R287C	ENSP00000329393:R762C	R	+	1	0	SMTN	29824783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.438000	0.59961	2.686000	0.91538	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	1	0	0	21	150	0	19	1	9.003532e-01	2	29	0	19	2		0	0	0	0	0	2	1	9.999982e-01	21	148	0	19	2								-20.000000	1	1	121256	3	35	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.950000	1.000000	1.000000	0.996663	0.990000	1	9.900000e-01	1
INPP5J	27124	broad.mit.edu	37	22	31529975	31529975	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31529975G>A	ENST00000331075.5	+	13	2640	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N|INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J			12					GAGGATGACAGCACACTGGAG	0.647000																								0							SO:0001583	missense			ENST00000331075.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716751	0.89205	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	D;D;D;D;D;D;D;D	0.99311	-5.23;-5.21;-5.27;-5.27;-5.26;-5.73;-4.44;-4.44	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	D	0.98902	0.9628	L	0.32530	0.975	0.49687	D	0.999815	D;D;D;D	0.89917	0.999;0.999;1.0;0.993	D;D;D;D	0.69479	0.964;0.922;0.963;0.91	D	0.99927	1.1295	10	0.87932	D	0	.	18.2558	0.90019	0.0:0.0:1.0:0.0	.	497;203;864;496	Q15735-2;B5MCL8;Q15735;Q15735-3	.;.;PI5PA_HUMAN;.	N	864;797;497;497;496;203;229;229	ENSP00000333262:S864N;ENSP00000392924:S797N;ENSP00000383150:S497N;ENSP00000384596:S497N;ENSP00000384534:S496N;ENSP00000385264:S203N;ENSP00000385343:S229N;ENSP00000384540:S229N	ENSP00000333262:S864N	S	+	2	0	INPP5J	29859975	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.493000	0.73658	2.610000	0.88304	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	0	0	0	12	116	0	22	1	6.612500e-01	6	17	0	22	2		0	0	0	0	0	2	1	9.992320e-01	11	116	0	22	2								-18.083580	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.630000	1.000000	1.000000	0.949780	0.990000	1	8.600000e-01	1
PLA2G3	50487	broad.mit.edu	37	22	31531903	31531903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31531903C>T	ENST00000215885.3	-	7	1588	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III			18					ACCCTGATGGCCCTAGGGTCT	0.597000																								0							SO:0001583	missense			ENST00000215885.3	1	1	hg19	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333843	0.60853	.	.	ENSG00000100078	ENST00000215885	T	0.30981	1.51	5.27	5.27	0.74061	Phospholipase A2 (2);	0.201738	0.42682	D	0.000673	T	0.52948	0.1766	M	0.71581	2.175	0.37492	D	0.916428	D	0.89917	1.0	D	0.80764	0.994	T	0.53613	-0.8414	10	0.30854	T	0.27	-9.2791	14.739	0.69440	0.0:1.0:0.0:0.0	.	446	Q9NZ20	PA2G3_HUMAN	T	446	ENSP00000215885:A446T	ENSP00000215885:A446T	A	-	1	0	PLA2G3	29861903	0.999000	0.42202	0.972000	0.41901	0.360000	0.29518	3.589000	0.53972	2.631000	0.89168	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	1	0	1	77	275	0	70	1	7.298074e-01	7	4	0	70	2		0	0	0	0	0	2	1	1	71	271	0	67	2								-20.000000	1	1	121412	22	43	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G3	50487	broad.mit.edu	37	22	31535981	31535981	+	Silent	SNP	C	C	T	rs149748193	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31535981C>T	ENST00000215885.3	-	1	612	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III			18					TCTCCTCAAGCGCTCGGCATG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000215885.3	1	1	hg19	CCDS13889.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	1	0	1	51	217	0	42	1	6.481457e-01	5	6	0	42	2		0	0	0	0	0	2	1	1	51	211	0	41	2								-20.000000	1	1	121410	19	44	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIMK2	3985	broad.mit.edu	37	22	31654314	31654314	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31654314T>C	ENST00000331728.4	+	3	268	c.154T>C	c.(154-156)Tat>Cat	p.Y52H	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2			29					CAACTGGTACTATGAGAAGGA	0.517000																								0							SO:0001583	missense			ENST00000331728.4	1	1	hg19	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799831	0.90538	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.66	5.66	0.87406	Zinc finger, LIM-type (4);	0.059305	0.64402	D	0.000001	D	0.93716	0.7992	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.992;0.995;0.992	D	0.94347	0.7576	10	0.87932	D	0	-19.7958	15.0663	0.71999	0.0:0.0:0.0:1.0	.	84;31;52	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	H	52;31;84;31;31	ENSP00000332687:Y52H;ENSP00000388422:Y31H;ENSP00000330470:Y31H;ENSP00000339916:Y31H	ENSP00000332687:Y52H	Y	+	1	0	LIMK2	29984314	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	7.698000	0.84413	2.154000	0.67381	0.379000	0.24179	TAT		TCGA-IB-7651-01A-11D-2154-08	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	0	0	0	11	403	0	88	0	7.540212e-01	1	99	0	88	2		0	0	0	0	0	2	1	9.982202e-01	11	396	0	87	2								-10.581160	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.330000	0.170000	1.000000	0.320000	0.402911	0.330000	0	2.400000e-01	4.900000e-01
LIMK2	3985	broad.mit.edu	37	22	31669446	31669446	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31669446T>C	ENST00000331728.4	+	14	1681	c.1567T>C	c.(1567-1569)Tat>Cat	p.Y523H	LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2			29					AGGAAAGAGCTATGATGAGAC	0.532000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000331728.4	1	1	hg19	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.261998	0.80358	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.53	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.84846	2.72	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.977	D	0.95049	0.8185	10	0.87932	D	0	-29.6651	12.0303	0.53394	0.0:0.0:0.1445:0.8555	.	555;502;277;523;445	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	H	445;277;523;555;502;502	ENSP00000384602:Y445H;ENSP00000409522:Y277H;ENSP00000332687:Y523H;ENSP00000330470:Y502H;ENSP00000339916:Y502H	ENSP00000332687:Y523H	Y	+	1	0	LIMK2	29999446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	0.904000	0.36572	0.460000	0.39030	TAT		TCGA-IB-7651-01A-11D-2154-08	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	1	0	1	45	203	0	45	1	1	45	155	0	45	2		0	0	0	0	0	2	1	1	43	202	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PATZ1	23598	broad.mit.edu	37	22	31731752	31731752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31731752C>T	ENST00000266269.5	-	3	2062	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1		EWSR1/PATZ1(2)	12					GTATGCTGCCCGCAAGTACTT	0.567000																								0							SO:0001583	missense			ENST00000266269.5	1	1	hg19	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374162	0.95923	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.11169	4.68;2.8;2.85	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.31578	0.945	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.75484	0.979;0.986;0.979	T	0.06303	-1.0834	10	0.15952	T	0.53	-17.0252	18.0252	0.89266	0.0:1.0:0.0:0.0	.	478;478;478	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	Q	478	ENSP00000266269:R478Q;ENSP00000384173:R478Q;ENSP00000337520:R478Q	ENSP00000266269:R478Q	R	-	2	0	PATZ1	30061752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	1	0	1	64	272	0	72	1	9.999895e-01	7	67	0	72	2		0	0	0	0	0	2	1	1	63	265	0	71	2								-2.746718	1	1	121412	1	30	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4ENIF1	56478	broad.mit.edu	37	22	31835923	31835923	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31835923G>A	ENST00000397525.1	-	19	3124	c.2901C>T	c.(2899-2901)ccC>ccT	p.P967P	EIF4ENIF1_ENST00000397523.1_Silent_p.P943P|EIF4ENIF1_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000382180.2_Silent_p.P622P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P|EIF4ENIF1_ENST00000441289.1_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1			36					TGGAGGGCAGGGGTTGCTGTA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000397525.1	1	1	hg19	CCDS13898.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	1	0	1	59	313	0	69	1	9.986819e-01	10	45	0	69	2		0	0	0	0	0	2	1	1	58	311	0	69	2								-2.675680	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4ENIF1	56478	broad.mit.edu	37	22	31844161	31844161	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31844161G>T	ENST00000397525.1	-	13	2049	c.1826C>A	c.(1825-1827)cCc>cAc	p.P609H	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1			36					GGGGCTCATGGGTTTGCGCAT	0.532000																								0							SO:0001583	missense			ENST00000397525.1	1	1	hg19	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880164	0.91740	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	6.16	0.99307	.	0.404947	0.30630	N	0.009207	T	0.66376	0.2783	L	0.38175	1.15	0.42328	D	0.992287	P;D;P;P	0.61080	0.896;0.989;0.797;0.914	P;P;P;P	0.60345	0.694;0.873;0.57;0.726	T	0.66681	-0.5862	9	0.66056	D	0.02	-6.1473	18.0158	0.89239	0.0:0.0:1.0:0.0	.	434;609;434;585	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	434;609;609;585;264;166	.	ENSP00000328103:P609H	P	-	2	0	EIF4ENIF1	30174161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.493000	0.73658	2.937000	0.99478	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	1	0	1	96	502	0	130	1	9.998831e-01	14	56	0	130	2		0	0	0	0	0	2	1	1	93	490	0	130	2								-3.225147	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFI1	9814	broad.mit.edu	37	22	31942888	31942888	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31942888A>C	ENST00000400288.2	+	5	485	c.380A>C	c.(379-381)gAa>gCa	p.E127A	SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000432498.1_Missense_Mutation_p.E127A|SFI1_ENST00000443326.1_Missense_Mutation_p.E45A|SFI1_ENST00000443011.1_Missense_Mutation_p.E45A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)			38					GTCTTCGAAGAATGGAAAGAG	0.413000																								0							SO:0001583	missense			ENST00000400288.2	1	1	hg19	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	6.071	0.381436	0.11524	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.11495	2.98;3.02;2.83;2.77;2.77;2.83;2.99	5.58	1.07	0.20283	.	0.799403	0.11209	N	0.587951	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B;B;D;B;P;P	0.71674	0.027;0.033;0.998;0.056;0.717;0.663	B;B;D;B;B;B	0.72625	0.02;0.034;0.978;0.034;0.352;0.159	T	0.24905	-1.0147	10	0.51188	T	0.08	.	4.3223	0.11023	0.5714:0.1658:0.2628:0.0	.	103;45;45;127;127;103	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	A	127;103;45;103;45;45;45;127	ENSP00000402679:E127A;ENSP00000443025:E103A;ENSP00000416469:E45A;ENSP00000397148:E45A;ENSP00000401199:E45A;ENSP00000383146:E45A;ENSP00000383145:E127A	ENSP00000383145:E127A	E	+	2	0	SFI1	30272888	0.617000	0.27043	0.053000	0.19242	0.270000	0.26580	0.916000	0.28651	-0.116000	0.11893	0.482000	0.46254	GAA		TCGA-IB-7651-01A-11D-2154-08	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	1	0	1	116	462	0	94	1	9.885505e-01	8	22	0	94	2		0	0	0	0	0	2	1	1	114	451	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFI1	9814	broad.mit.edu	37	22	32003945	32003945	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32003945C>A	ENST00000400288.2	+	22	2285	c.2180C>A	c.(2179-2181)gCt>gAt	p.A727D	SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000432498.1_Missense_Mutation_p.A696D|SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)			38					TGGCGGGAAGCTGTGTCAGTG	0.607000																								0							SO:0001583	missense			ENST00000400288.2	1	1	hg19	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644410	0.29246	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16073	2.92;2.92;2.75;2.77;2.77;2.75;2.92;2.37	5.08	1.67	0.24075	.	0.464849	0.24111	N	0.041452	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	P;P;B;P;P	0.46987	0.888;0.773;0.302;0.789;0.573	P;B;B;P;B	0.47915	0.561;0.3;0.109;0.48;0.3	T	0.12268	-1.0554	10	0.62326	D	0.03	.	2.7705	0.05333	0.2125:0.4995:0.0:0.2879	.	672;633;645;696;727	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	D	696;672;645;574;574;645;727;310	ENSP00000402679:A696D;ENSP00000443025:A672D;ENSP00000416469:A645D;ENSP00000397148:A574D;ENSP00000401199:A574D;ENSP00000383146:A645D;ENSP00000383145:A727D;ENSP00000398871:A310D	ENSP00000383145:A727D	A	+	2	0	SFI1	30333945	0.020000	0.18652	0.144000	0.22314	0.059000	0.15707	-0.020000	0.12525	0.138000	0.18790	-1.288000	0.01363	GCT		TCGA-IB-7651-01A-11D-2154-08	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	1	0	1	20	133	0	37	1	9.722260e-01	11	31	0	37	2		0	0	0	0	0	2	1	9.999951e-01	17	129	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.997950	0.990000	1	9.900000e-01	1
SFI1	9814	broad.mit.edu	37	22	32014362	32014362	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32014362C>T	ENST00000400288.2	+	33	3792	c.3687C>T	c.(3685-3687)gcC>gcT	p.A1229A	SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000432498.1_Silent_p.A1198A|SFI1_ENST00000443326.1_Silent_p.A1147A|PISD_ENST00000478893.1_5'Flank|SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000443011.1_Silent_p.A1076A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)			38					CCATTGGCGCCTGCGTTGCCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000400288.2	1	1	hg19	CCDS43004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	1	0	1	22	89	0	19	1	9.168981e-01	3	17	0	19	2		0	0	0	0	0	2	1	9.999994e-01	22	88	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
PISD	23761	broad.mit.edu	37	22	32017820	32017820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32017820G>A	ENST00000439502.2	-	4	596	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PISD_ENST00000397500.1_Missense_Mutation_p.R91C|PISD_ENST00000382151.2_Missense_Mutation_p.R91C|PISD_ENST00000266095.5_Missense_Mutation_p.R91C|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000336566.4_Missense_Mutation_p.R125C			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase			12				Phosphatidylserine(DB00144)	TGATTGAGGCGACCCCAGGCC	0.622000																								0							SO:0001583	missense			ENST00000439502.2	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	24.4	4.531634	0.85706	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000439502;ENST00000336566;ENST00000451635;ENST00000422020	.	.	.	5.62	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.79614	2.46	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.999;0.913	D;P;P;B	0.63703	0.917;0.872;0.838;0.334	T	0.77021	-0.2742	9	0.39692	T	0.17	-43.4371	13.5982	0.62002	0.0745:0.0:0.9255:0.0	.	115;125;91;91	B1AJZ0;Q9UG56;B1AKM6;Q9UG56-2	.;PISD_HUMAN;.;.	C	91;91;91;125;125;91;91	.	ENSP00000266095:R91C	R	-	1	0	PISD	30347820	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.471000	0.97696	1.387000	0.46486	-0.251000	0.11542	CGC		TCGA-IB-7651-01A-11D-2154-08	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4	1	0	1	82	366	0	93	1	9.999982e-01	21	66	0	93	2		0	0	0	0	0	2	1	1	81	359	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEPDC5	9681	broad.mit.edu	37	22	32215144	32215144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32215144C>T	ENST00000382112.3	+	21	1873	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000400246.1_Silent_p.F601F|DEPDC5_ENST00000400248.2_Silent_p.F601F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	p.F601F(3)		63					TTAACCCCTTCGCTCCCTCTC	0.542000																								3	Substitution - coding silent(3)						SO:0001819	synonymous_variant			ENST00000382112.3	1	1	hg19	CCDS46692.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	1	0	1	113	519	1	108	1	8.337302e-01	6	11	1	108	2		0	0	0	0	0	2	1	1	113	506	1	104	20								-3.061231	1	0	120976	3	40	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEPDC5	9681	broad.mit.edu	37	22	32217617	32217617	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32217617C>A	ENST00000382112.3	+	22	2070	c.2000C>A	c.(1999-2001)gCt>gAt	p.A667D	DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000536766.1_Intron	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5			63					CATGAAGCTGCTGGAAGGTGA	0.522000																								0							SO:0001583	missense			ENST00000382112.3	1	1	hg19	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.184099|4.184099	0.78677|0.78677	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24908|.	1.85;1.9;1.83;1.9;1.83;1.9|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.058834|.	0.64402|.	D|.	0.000001|.	T|.	0.53481|.	0.1799|.	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.35272|.	0.418;0.493;0.039;0.181|.	B;B;B;B|.	0.26864|.	0.046;0.074;0.034;0.034|.	T|.	0.46020|.	-0.9221|.	10|.	0.16896|.	T|.	0.51|.	.|.	19.2671|19.2671	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667;667;667;667|.	B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;DEPD5_HUMAN|.	D|X	667|64	ENSP00000266091:A667D;ENSP00000383108:A667D;ENSP00000383105:A667D;ENSP00000371546:A667D;ENSP00000371545:A667D;ENSP00000383107:A667D|.	ENSP00000266091:A667D|.	A|C	+|+	2|3	0|2	DEPDC5|DEPDC5	30547617|30547617	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.999000|0.999000	0.98932|0.98932	5.624000|5.624000	0.67764|0.67764	2.801000|2.801000	0.96364|0.96364	0.655000|0.655000	0.94253|0.94253	GCT|TGC		TCGA-IB-7651-01A-11D-2154-08	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	0	0	1	154	721	1	199	1	7.999316e-01	3	13	1	199	2		0	0	0	0	0	2	1	1	150	703	1	198	16								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEPDC5	9681	broad.mit.edu	37	22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32270272C>A	ENST00000382112.3	+	35	3620	c.3550C>A	c.(3550-3552)Ctg>Atg	p.L1184M	DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1193M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5			63					AGGAGTCCAGCTGCTCTCTGA	0.572000																								0							SO:0001583	missense			ENST00000382112.3	1	1	hg19	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985187|3.985187	0.74474|0.74474	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T;T	.|0.37915	.|2.35;2.35;2.35;2.35;1.17;2.35;2.35;2.35;2.35	4.92|4.92	3.88|3.88	0.44766|0.44766	.|DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.998;0.999;0.999	T|T	0.34925|0.34925	-0.9809|-0.9809	5|10	.|0.16420	.|T	.|0.52	.|.	12.9143|12.9143	0.58197|0.58197	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|1193;1093;579;1171;1184;1162	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	D|M	568|1093;1171;1162;1093;1193;1115;1184;1193;1162;10	.|ENSP00000440210:L1093M;ENSP00000266091:L1171M;ENSP00000383108:L1162M;ENSP00000383105:L1193M;ENSP00000371539:L1115M;ENSP00000371546:L1184M;ENSP00000371545:L1193M;ENSP00000383107:L1162M;ENSP00000446286:L10M	.|ENSP00000266091:L1171M	A|L	+|+	2|1	0|2	DEPDC5|DEPDC5	30600272|30600272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.227000|3.227000	0.51262|0.51262	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	1	0	1	15	50	0	23	1	9.753369e-01	6	18	0	23	2		0	0	0	0	0	2	1	9.999297e-01	15	49	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999935	0.990000	1	9.900000e-01	1
YWHAH	7533	broad.mit.edu	37	22	32352162	32352162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32352162C>T	ENST00000248975.5	+	2	397	c.124C>T	c.(124-126)Cga>Tga	p.R42*	snoU13_ENST00000459049.1_RNA|YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta			4					CAATGAAGATCGAAATCTCCT	0.448000													Ovarian(98;460 2060 9263 44007)											0							SO:0001587	stop_gained			ENST00000248975.5	0	1	hg19	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378687	0.42207	.	.	ENSG00000128245	ENST00000248975;ENST00000420430	.	.	.	5.95	2.6	0.31112	.	0.075854	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0057	9.3128	0.37915	0.4046:0.5275:0.0:0.0679	.	.	.	.	X	42;29	.	ENSP00000248975:R42X	R	+	1	2	YWHAH	30682162	0.267000	0.24122	1.000000	0.80357	0.995000	0.86356	0.191000	0.17076	0.349000	0.23975	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	1	0	1	92	302	0	76	1	1	115	617	0	76	2		0	0	0	0	0	2	1	1	90	297	0	76	2								-4.405415	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A1	6523	broad.mit.edu	37	22	32495260	32495260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32495260G>A	ENST00000266088.4	+	12	1621	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SLC5A1_ENST00000543737.1_Silent_p.Q330Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1			37				Canagliflozin(DB08907)	ATTACATCCAGTCCATCACCA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000266088.4	1	1	hg19	CCDS13902.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	1	0	1	237	987	0	236	1	1	34	65	0	236	2		0	0	0	0	0	2	1	1	236	967	1	234	18								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A1	6523	broad.mit.edu	37	22	32498116	32498116	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32498116G>A	ENST00000266088.4	+	13	1807	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	SLC5A1_ENST00000543737.1_Silent_p.T392T	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1			37				Canagliflozin(DB08907)	ACTGTCCCACGATTATCTGTG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000266088.4	0	1	hg19	CCDS13902.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	0	0	0	9	558	0	97	1	4.302630e-01	8	77	0	97	2		0	0	0	0	0	2	1	9.935376e-01	9	543	0	96	2								-2.676108	1	0	121412	1	32	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.200000	0.090000	1.000000	0.190000	0.283806	0.200000	0	1.400000e-01	3.100000e-01
C22orf42	150297	broad.mit.edu	37	22	32555003	32555003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32555003G>A	ENST00000382097.3	-	1	272	c.200C>T	c.(199-201)cCg>cTg	p.P67L	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42			24					CGGCGTCTTCGGGAGGCTGAG	0.557000																								0							SO:0001583	missense			ENST00000382097.3	1	1	hg19	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	3.665	-0.068624	0.07228	.	.	ENSG00000205856	ENST00000382097	T	0.24723	1.84	.	.	.	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.59546	0.859	T	0.15983	-1.0418	7	0.51188	T	0.08	.	.	.	.	.	67	Q6IC83	CV042_HUMAN	L	67	ENSP00000371529:P67L	ENSP00000371529:P67L	P	-	2	0	C22orf42	30885003	0.003000	0.15002	0.025000	0.17156	0.029000	0.11900	0.226000	0.17776	0.064000	0.16427	0.064000	0.15345	CCG		TCGA-IB-7651-01A-11D-2154-08	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	1	0	1	243	1054	0	234	0	0	0	1	0	234	2		0	0	0	0	0	2	1	1	235	1019	0	228	2								-2.249720	0	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFPL2	10739	broad.mit.edu	37	22	32586765	32586765	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32586765G>T	ENST00000400237.1	-	5	2066	c.1131C>A	c.(1129-1131)gcC>gcA	p.A377A	RFPL2_ENST00000400236.3_Silent_p.A287A|RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2			21					GGGCTTATTTGGCCTCCCCAG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000400237.1	1	1	hg19	CCDS43009.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	0	0	1	96	510	1	139		0	0	0	1	139	2		0	0	0	0	0	2	1	1	90	477	1	144	15								-3.223986	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFPL3	10738	broad.mit.edu	37	22	32754256	32754256	+	Silent	SNP	G	G	A	rs61729170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3			15					GCATCAATTCGCTGCAGAAGG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000249007.4	1	0	hg19	CCDS43011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	1	0	1	101	407	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	98	402	0	99	2								-2.492283	0	1	121412	52	47	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO7	25793	broad.mit.edu	37	22	32875113	32875113	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875113T>C	ENST00000266087.7	+	2	595	c.268T>C	c.(268-270)Tcc>Ccc	p.S90P	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7			19					TATACCTTCATCCACAGATTC	0.443000																								0							SO:0001583	missense			ENST00000266087.7	1	1	hg19	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291808	0.40594	.	.	ENSG00000100225	ENST00000266087	T	0.41065	1.01	5.45	4.41	0.53225	.	0.118284	0.64402	D	0.000011	T	0.29061	0.0722	L	0.42529	1.33	0.80722	D	1	B	0.20368	0.044	B	0.14023	0.01	T	0.13548	-1.0505	10	0.22109	T	0.4	-20.8168	4.9583	0.14054	0.0:0.2026:0.0:0.7974	.	90	Q9Y3I1	FBX7_HUMAN	P	90	ENSP00000266087:S90P	ENSP00000266087:S90P	S	+	1	0	FBXO7	31205113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.616000	0.36933	2.065000	0.61736	0.454000	0.30748	TCC		TCGA-IB-7651-01A-11D-2154-08	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1	1	0	1	172	754	0	147	1	1	89	230	0	147	2		0	0	0	0	0	2	1	1	167	739	0	146	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO7	25793	broad.mit.edu	37	22	32875119	32875119	+	Missense_Mutation	SNP	G	G	T	rs139135860	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875119G>T	ENST00000266087.7	+	2	601	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7			19					TTCATCCACAGATTCAGAGCA	0.433000																								0							SO:0001583	missense			ENST00000266087.7	0	1	hg19	CCDS13907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061175|3.061175	0.55432|0.55432	.|.	.|.	ENSG00000100225|ENSG00000100225	ENST00000452138;ENST00000382058|ENST00000266087	.|T	.|0.56941	.|0.43	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.341251	.|0.31697	.|N	.|0.007220	.|T	.|0.57021	.|0.2025	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|P	.|0.52316	.|0.952	.|P	.|0.47645	.|0.553	.|T	.|0.61676	.|-0.7014	.|10	.|0.52906	.|T	.|0.07	.|-13.235	9.1792|9.1792	0.37131|0.37131	0.0:0.1374:0.6345:0.228|0.0:0.1374:0.6345:0.228	.|.	.|92	.|Q9Y3I1	.|FBX7_HUMAN	.|Y	-1|92	.|ENSP00000266087:D92Y	.|ENSP00000266087:D92Y	.|D	+|+	.|1	.|0	FBXO7|FBXO7	31205119|31205119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.211000|2.211000	0.42825|0.42825	2.553000|2.553000	0.86117|0.86117	0.555000|0.555000	0.69702|0.69702	.|GAT		TCGA-IB-7651-01A-11D-2154-08	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1	1	0	1	196	688	0	142	1	1	81	241	0	142	2		0	0	0	0	0	2	1	1	190	670	0	141	2								-3.342002	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO7	25793	broad.mit.edu	37	22	32894330	32894330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32894330T>C	ENST00000266087.7	+	9	1709	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T|FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7			19					GGAGACCCAATCAGTTCACTC	0.552000																								0							SO:0001583	missense			ENST00000266087.7	1	1	hg19	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620332	0.46736	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.73258	-0.73;-0.18;-0.16	5.93	5.93	0.95920	.	0.358855	0.29558	N	0.011814	T	0.69260	0.3091	M	0.66939	2.045	0.35874	D	0.828461	B;B;B	0.29862	0.165;0.259;0.165	B;B;B	0.22753	0.027;0.041;0.027	T	0.74996	-0.3473	10	0.54805	T	0.06	-4.8952	16.3798	0.83452	0.0:0.0:0.0:1.0	.	461;382;461	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	T	461;382;347	ENSP00000266087:I461T;ENSP00000371490:I382T;ENSP00000380571:I347T	ENSP00000266087:I461T	I	+	2	0	FBXO7	31224330	.	.	0.064000	0.19789	0.984000	0.73092	.	.	2.271000	0.75665	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1	1	0	1	104	446	0	127	1	1	139	447	0	127	2		0	0	0	0	0	2	1	1	101	434	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYN3	8224	broad.mit.edu	37	22	32992713	32992713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32992713G>A	ENST00000358763.2	-	7	963	c.721C>T	c.(721-723)Cca>Tca	p.P241S	SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III			33					GGGAAGTGTGGGGCTGTGACC	0.512000																								0							SO:0001583	missense			ENST00000358763.2	1	1	hg19	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303253	0.40795	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.32272	1.46;1.46	5.05	5.05	0.67936	ATP-grasp fold, subdomain 1 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.55990	1.75	0.45366	D	0.998351	D;D;D	0.59357	0.985;0.985;0.985	D;D;D	0.70487	0.969;0.969;0.969	T	0.29397	-1.0013	10	0.30854	T	0.27	.	13.9058	0.63834	0.0:0.0:1.0:0.0	.	240;241;241	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	S	241	ENSP00000351614:P241S;ENSP00000330219:P241S	ENSP00000330219:P241S	P	-	1	0	SYN3	31322713	1.000000	0.71417	0.999000	0.59377	0.730000	0.41778	2.611000	0.46334	2.340000	0.79590	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4	1	0	1	33	177	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	33	170	0	43	2								-2.803463	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
TIMP3	7078	broad.mit.edu	37	22	33255181	33255181	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33255181C>T	ENST00000266085.6	+	5	754	c.453C>T	c.(451-453)taC>taT	p.Y151Y	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3			7					AGTCCTGCTACTACCTGCCTT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000266085.6	1	1	hg19	CCDS13911.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	1	0	1	69	375	0	79	0	1	0	1276	0	79	2		0	0	0	0	0	2	1	1	68	367	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYN3	8224	broad.mit.edu	37	22	33265005	33265005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33265005G>T	ENST00000358763.2	-	5	811	c.569C>A	c.(568-570)cCt>cAt	p.P190H	SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III			33					GTTGACAGCAGGCAGCCCTCC	0.607000																								0							SO:0001583	missense			ENST00000358763.2	1	1	hg19	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319821	0.60634	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.067659	0.64402	D	0.000014	T	0.42268	0.1195	M	0.70275	2.135	0.80722	D	1	P;B;P	0.44260	0.83;0.434;0.83	B;B;B	0.34536	0.185;0.131;0.185	T	0.51356	-0.8716	10	0.72032	D	0.01	-3.5917	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	189;190;190	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	190	ENSP00000351614:P190H;ENSP00000330219:P190H	ENSP00000330219:P190H	P	-	2	0	SYN3	31595005	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.538000	0.82048	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4	1	0	1	27	152	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	27	148	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999895	0.990000	1	9.900000e-01	1
SYN3	8224	broad.mit.edu	37	22	33402568	33402568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33402568C>T	ENST00000358763.2	-	2	322	c.80G>A	c.(79-81)cGc>cAc	p.R27H	SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III			33					GCTATCTGGGCGTTGCAGGTC	0.592000																								0							SO:0001583	missense			ENST00000358763.2	1	1	hg19	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620197	0.66787	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.39229	1.09;1.09	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.63450	0.2512	M	0.62723	1.935	0.47547	D	0.999454	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.971;0.98	T	0.65932	-0.6048	10	0.66056	D	0.02	-4.6075	18.8654	0.92290	0.0:1.0:0.0:0.0	.	27;27;27	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	27	ENSP00000351614:R27H;ENSP00000330219:R27H	ENSP00000330219:R27H	R	-	2	0	SYN3	31732568	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.908000	0.69916	2.509000	0.84616	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4	1	0	1	116	584	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1	114	566	0	135	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARGE	9215	broad.mit.edu	37	22	33960892	33960892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33960892C>T	ENST00000354992.2	-	7	1300	c.729G>A	c.(727-729)acG>acA	p.T243T	LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000402320.1_Silent_p.T243T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase			51		Lung NSC(1;0.219)			AGGTGATATCCGTGTCAAGGA	0.478000													Colon(70;397 1175 4573 19089 45288)											0							SO:0001819	synonymous_variant			ENST00000354992.2	1	1	hg19	CCDS13912.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	1	0	1	78	342	0	103	0	9.989305e-01	1	46	0	103	2		0	0	0	0	0	2	1	1	75	336	0	101	2								-2.371204	0	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ISX	91464	broad.mit.edu	37	22	35478605	35478605	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35478605C>T	ENST00000308700.6	+	2	1276	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ISX_ENST00000404699.2_Silent_p.D108D	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox			26					ACTACCCAGACGTTCACATCC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000308700.6	1	1	hg19	CCDS33640.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	1	0	1	63	330	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	61	318	0	73	2								-20.000000	1	1	121412	5	38	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMGXB4	10042	broad.mit.edu	37	22	35680005	35680005	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35680005C>T	ENST00000216106.5	+	6	1394	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	HMGXB4_ENST00000444518.2_Silent_p.R313R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4			19					AAGAGTATCGCGTGACCATTG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000216106.5	1	1	hg19	CCDS33641.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	1	0	1	66	293	0	74	1	9.999999e-01	23	85	0	74	2		0	0	0	0	0	2	1	1	66	287	0	74	2								-20.000000	1	1	121412	5	40	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM5	4174	broad.mit.edu	37	22	35808506	35808506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35808506G>A	ENST00000216122.4	+	8	1077	c.923G>A	c.(922-924)cGc>cAc	p.R308H	MCM5_ENST00000382011.5_Missense_Mutation_p.R265H|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5			29					TACCAAGGCCGCAGCTTTGCT	0.632000																								0							SO:0001583	missense			ENST00000216122.4	1	1	hg19	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555671	0.45487	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.03801	4.13;3.8	5.62	4.6	0.57074	.	0.097141	0.64402	D	0.000001	T	0.10423	0.0255	M	0.86028	2.79	0.58432	D	0.999992	B;B;B;B	0.13594	0.008;0.008;0.008;0.008	B;B;B;B	0.12837	0.008;0.008;0.008;0.008	T	0.01545	-1.1328	10	0.56958	D	0.05	-25.5116	11.3088	0.49351	0.1579:0.0:0.8421:0.0	.	308;308;265;308	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	H	308;265;217	ENSP00000216122:R308H;ENSP00000371441:R265H	ENSP00000216122:R308H	R	+	2	0	MCM5	34138506	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	5.437000	0.66544	1.383000	0.46405	-0.258000	0.10820	CGC		TCGA-IB-7651-01A-11D-2154-08	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3	1	0	1	135	502	0	96	1	9.999994e-01	16	61	0	96	2		0	0	0	0	0	2	1	1	133	497	0	94	2								-3.887425	1	1	121346	1	33	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASD2	23551	broad.mit.edu	37	22	35947670	35947670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35947670C>T	ENST00000216127.4	+	3	1034	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2			13					AAGGAGGCGGCGGAGCTGCCC	0.622000																								0							SO:0001583	missense			ENST00000216127.4	1	1	hg19	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921724	0.17982	0.0	1.16E-4	ENSG00000100302	ENST00000216127	T	0.77358	-1.09	5.72	3.6	0.41247	Small GTP-binding protein domain (1);	0.291299	0.39083	N	0.001465	T	0.58821	0.2149	N	0.04162	-0.26	0.32629	N	0.522231	B	0.12630	0.006	B	0.13407	0.009	T	0.56062	-0.8041	10	0.27082	T	0.32	.	16.9288	0.86184	0.0:0.5053:0.4947:0.0	.	131	Q96D21	RHES_HUMAN	V	131	ENSP00000216127:A131V	ENSP00000216127:A131V	A	+	2	0	RASD2	34277616	0.844000	0.29557	0.620000	0.29132	0.949000	0.60115	1.492000	0.35594	0.746000	0.32786	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	1	0	0	33	349	0	72	0	2.208680e-01	0	10	0	72	2		0	0	0	0	0	2	1	1	32	346	0	71	2								-3.318794	1	1	121412	1	32	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.730000	1.000000	1.000000	0.955826	0.990000	1	8.700000e-01	1
APOL5	80831	broad.mit.edu	37	22	36124810	36124810	+	Silent	SNP	G	G	A	rs142361344	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36124810G>A	ENST00000249044.2	+	4	1167	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5			19					TGGAGCACCAGCCTAGGCTGG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000249044.2	1	0	hg19	CCDS13920.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	1	0	1	67	384	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	67	375	0	99	2								-5.227833	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOL3	80833	broad.mit.edu	37	22	36537445	36537445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36537445G>A	ENST00000349314.2	-	3	1049	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	APOL3_ENST00000424878.2_Missense_Mutation_p.R138W|APOL3_ENST00000487423.1_5'Flank|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W|APOL3_ENST00000361710.2_Missense_Mutation_p.R138W	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	p.R338W(1)|p.R267W(1)		5					CTCAGGATCCGGGCTCCTCTG	0.577000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000349314.2	1	1	hg19	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275184	0.59649	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	4.08	0.374	0.16183	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.76170	2.325	0.28874	N	0.894763	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01273	-1.1399	10	0.62326	D	0.03	.	6.8323	0.23917	0.0:0.1585:0.3732:0.4682	.	338;267	O95236;O95236-2	APOL3_HUMAN;.	W	267;138;338;138;138	ENSP00000380461:R267W;ENSP00000415779:R138W;ENSP00000344577:R338W;ENSP00000355164:R138W;ENSP00000380456:R138W	ENSP00000344577:R338W	R	-	1	2	APOL3	34867391	0.252000	0.23972	0.355000	0.25773	0.011000	0.07611	0.390000	0.20768	0.464000	0.27142	0.478000	0.44815	CGG		TCGA-IB-7651-01A-11D-2154-08	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	1	0	1	62	294	0	73	1	1	26	189	0	73	2		0	0	0	0	0	2	1	1	61	288	0	73	2								-2.674520	1	1	121412	3	35	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOL2	23780	broad.mit.edu	37	22	36623483	36623483	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36623483G>T	ENST00000249066.6	-	6	1457	c.981C>A	c.(979-981)atC>atA	p.I327I	APOL2_ENST00000358502.5_Silent_p.I327I|APOL2_ENST00000451256.2_Silent_p.I439I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2			9					GCATCTCATGGATCTTGGTGA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000249066.6	1	1	hg19	CCDS43014.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	1	0	1	91	441	0	99	1	1	144	314	0	99	2		0	0	0	0	0	2	1	1	85	419	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOL2	23780	broad.mit.edu	37	22	36624001	36624001	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36624001G>T	ENST00000249066.6	-	6	939	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	APOL2_ENST00000358502.5_Missense_Mutation_p.L155M|APOL2_ENST00000451256.2_Missense_Mutation_p.L267M	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2			9					GCTGCTCCCAGACCCATGCCA	0.572000																								0							SO:0001583	missense			ENST00000249066.6	1	1	hg19	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340718	0.24339	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.08807	3.05;3.05;3.05	3.66	-0.134	0.13481	.	0.149389	0.44688	D	0.000421	T	0.09992	0.0245	M	0.77486	2.375	0.09310	N	1	P;P	0.36412	0.463;0.552	B;B	0.38428	0.212;0.273	T	0.13072	-1.0523	10	0.54805	T	0.06	.	3.0361	0.06122	0.2466:0.0:0.5428:0.2106	.	267;155	B4E1T5;Q9BQE5	.;APOL2_HUMAN	M	155;155;267	ENSP00000351292:L155M;ENSP00000249066:L155M;ENSP00000403153:L267M	ENSP00000249066:L155M	L	-	1	2	APOL2	34953947	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	-0.260000	0.08708	0.318000	0.23185	0.411000	0.27672	CTG		TCGA-IB-7651-01A-11D-2154-08	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	1	0	1	15	260	0	64	1	9.999980e-01	45	397	0	64	2		0	0	0	0	0	2	1	9.998550e-01	15	252	0	63	2								-17.615350	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.670000	0.390000	1.000000	1.000000	0.703824	0.670000	0	5.100000e-01	9.300000e-01
APOL1	8542	broad.mit.edu	37	22	36651007	36651007	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36651007G>T	ENST00000397278.3	+	2	235	c.6G>T	c.(4-6)gaG>gaT	p.E2D	APOL1_ENST00000440669.2_Missense_Mutation_p.E2D|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000422706.1_Missense_Mutation_p.E2D|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D|APOL1_ENST00000319136.4_Missense_Mutation_p.E18D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1			14					GCGACATGGAGGGAGCTGCTT	0.542000																								0							SO:0001583	missense			ENST00000397278.3	1	1	hg19	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.865132	0.32977	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000438034;ENST00000427990;ENST00000397279;ENST00000433768;ENST00000440669	T;T;T;T;T;T	0.22945	3.53;3.53;3.17;3.48;1.93;3.53	1.83	0.579	0.17397	.	416.553000	0.01513	U	0.018039	T	0.22627	0.0546	N	0.19112	0.55	0.18873	N	0.999982	D;D;D	0.64830	0.989;0.989;0.994	P;B;P	0.49226	0.496;0.399;0.603	T	0.09400	-1.0676	10	0.56958	D	0.05	.	3.2446	0.06793	0.4761:0.0:0.5239:0.0	.	2;2;18	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	2;2;2;18;31;2;2;2;2	ENSP00000380448:E2D;ENSP00000411507:E2D;ENSP00000388477:E2D;ENSP00000317674:E18D;ENSP00000391302:E2D;ENSP00000380449:E2D	ENSP00000317674:E18D	E	+	3	2	APOL1	34980953	0.004000	0.15560	0.009000	0.14445	0.224000	0.24922	-0.005000	0.12855	0.149000	0.19098	0.184000	0.17185	GAG		TCGA-IB-7651-01A-11D-2154-08	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	1	0	1	42	299	0	71	1	1	639	1053	0	71	2		0	0	0	0	0	2	1	1	40	293	0	71	2								-2.879510	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999669	0.990000	1	9.900000e-01	1
APOL1	8542	broad.mit.edu	37	22	36661223	36661223	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36661223C>A	ENST00000397278.3	+	6	570	c.341C>A	c.(340-342)gCt>gAt	p.A114D	APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D|APOL1_ENST00000319136.4_Missense_Mutation_p.A130D|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1			14					CTCCGTAAAGCTCTGGACAAC	0.458000																								0							SO:0001583	missense			ENST00000397278.3	1	1	hg19	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	c	11.47	1.648028	0.29336	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000397279	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	2.52	-4.21	0.03812	.	1.106010	0.06755	N	0.780721	T	0.13628	0.0330	M	0.75615	2.305	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.997	T	0.26467	-1.0102	10	0.54805	T	0.06	.	0.0452	0.00010	0.2944:0.2396:0.1985:0.2676	.	96;114;130	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	114;114;96;130;114;114	ENSP00000380448:A114D;ENSP00000411507:A114D;ENSP00000388477:A96D;ENSP00000317674:A130D;ENSP00000391302:A114D;ENSP00000380449:A114D	ENSP00000317674:A130D	A	+	2	0	APOL1	34991169	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.397000	0.07269	-0.899000	0.03901	0.194000	0.17425	GCT		TCGA-IB-7651-01A-11D-2154-08	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	1	0	1	69	314	0	91	1	1	1087	1794	0	91	2		0	0	0	0	0	2	1	1	66	302	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH9	4627	broad.mit.edu	37	22	36691608	36691608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36691608G>A	ENST00000216181.5	-	26	3658	c.3428C>T	c.(3427-3429)gCt>gTt	p.A1143V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle			86					TGTTTTCAGAGCCTCTAGCTC	0.572000			T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated						Dom	yes		22	22q13.1	4627	myosin, heavy polypeptide 9, non-muscle	yes	L	0							SO:0001583	missense	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	ENST00000216181.5	0	1	hg19	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674146	0.88445	.	.	ENSG00000100345	ENST00000216181	T	0.79247	-1.25	4.56	4.56	0.56223	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.89785	3.06	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	D	0.92210	0.5775	10	0.72032	D	0.01	.	17.6926	0.88272	0.0:0.0:1.0:0.0	.	1143	P35579	MYH9_HUMAN	V	1143	ENSP00000216181:A1143V	ENSP00000216181:A1143V	A	-	2	0	MYH9	35021554	1.000000	0.71417	0.952000	0.39060	0.530000	0.34684	9.813000	0.99286	2.261000	0.74972	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	0	0	0	9	245	0	32	1	1	67	2253	0	32	2		0	0	0	0	0	2	1	9.934600e-01	7	238	0	32	2								-10.278920	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.450000	0.210000	1.000000	0.420000	0.508389	0.450000	0	3.100000e-01	6.800000e-01
MYH9	4627	broad.mit.edu	37	22	36705431	36705431	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36705431T>G	ENST00000216181.5	-	15	1969	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle			86					CTCGTCAGCTTTGTAATCCAC	0.567000			T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated						Dom	yes		22	22q13.1	4627	myosin, heavy polypeptide 9, non-muscle	yes	L	0							SO:0001583	missense	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	ENST00000216181.5	1	1	hg19	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967794	0.74131	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.71341	-0.56	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	N	0.17278	0.47	0.80722	D	1	B	0.29115	0.233	B	0.37267	0.245	T	0.65344	-0.6191	10	0.87932	D	0	.	14.1891	0.65625	0.0:0.0:0.0:1.0	.	580	P35579	MYH9_HUMAN	T	444;580	ENSP00000216181:K580T	ENSP00000216181:K580T	K	-	2	0	MYH9	35035377	1.000000	0.71417	0.984000	0.44739	0.765000	0.43378	8.023000	0.88764	1.904000	0.55121	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	1	0	0	21	222	0	34	1	1	97	1545	0	34	2		0	0	0	0	0	2	1	9.999975e-01	21	216	0	33	2								-8.463218	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.670000	1.000000	1.000000	0.944192	0.990000	1	8.400000e-01	1
EIF3D	8664	broad.mit.edu	37	22	36912757	36912757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36912757C>T	ENST00000216190.8	-	11	1441	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	EIF3D_ENST00000541106.1_Silent_p.A308A|EIF3D_ENST00000405442.1_Silent_p.A357A	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D			15					CCTACCGGTACGCAACAGAGG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000216190.8	1	1	hg19	CCDS13930.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1	1	0	1	157	704	0	177	1	1	264	733	0	177	2		0	0	0	0	0	2	1	1	156	693	0	177	2								-20.000000	1	1	121412	1	37	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSF2RB	1439	broad.mit.edu	37	22	37331398	37331398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37331398C>T	ENST00000403662.3	+	11	1543	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	CSF2RB_ENST00000262825.5_Missense_Mutation_p.P447S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P388S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P447S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)			42				Sargramostim(DB00020)	GGAAGTGCTGCCTATGTGGGT	0.592000																								0							SO:0001583	missense			ENST00000403662.3	0	1	hg19	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195812	0.38806	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92299	-2.5;-2.99;-2.99;-3.01	5.04	4.02	0.46733	.	0.223957	0.23002	N	0.053071	D	0.87597	0.6217	L	0.39566	1.225	0.41067	D	0.985429	B;P	0.47604	0.063;0.898	B;B	0.43575	0.061;0.424	D	0.84699	0.0727	10	0.27082	T	0.32	-19.3553	10.1041	0.42521	0.0:0.9056:0.0:0.0944	.	447;441	P32927-2;P32927	.;IL3RB_HUMAN	S	441;441;447;447;388	ENSP00000384053:P441S;ENSP00000262825:P447S;ENSP00000385271:P447S;ENSP00000440003:P388S	ENSP00000262825:P447S	P	+	1	0	CSF2RB	35661344	0.980000	0.34600	0.827000	0.32855	0.007000	0.05969	1.366000	0.34193	1.448000	0.47680	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	0	0	0	5	209	0	55	0	1.965626e-01	0	29	0	55	2		0	0	0	0	0	2	1	9.375073e-01	5	208	0	55	2								-6.600368	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.310000	0.110000	1.000000	0.280000	0.388481	0.310000	0	1.900000e-01	5.300000e-01
CSF2RB	1439	broad.mit.edu	37	22	37334204	37334204	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37334204T>C	ENST00000403662.3	+	14	2576	c.2354T>C	c.(2353-2355)gTc>gCc	p.V785A	CSF2RB_ENST00000262825.5_Missense_Mutation_p.V791A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)			42				Sargramostim(DB00020)	AACAATCCTGTCCCCCCTGAG	0.642000																								0							SO:0001583	missense			ENST00000403662.3	1	1	hg19	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	0.386	-0.925985	0.02377	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.90788	-2.22;-2.73;-2.73;-2.73	5.38	-1.52	0.08637	.	0.614872	0.14560	N	0.312136	T	0.63628	0.2527	N	0.01048	-1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.004	T	0.61549	-0.7040	10	0.07030	T	0.85	-8.6352	2.1121	0.03705	0.1292:0.458:0.1419:0.2708	.	791;785	P32927-2;P32927	.;IL3RB_HUMAN	A	785;785;791;791;732	ENSP00000384053:V785A;ENSP00000262825:V791A;ENSP00000385271:V791A;ENSP00000440003:V732A	ENSP00000262825:V791A	V	+	2	0	CSF2RB	35664150	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.161000	0.10026	-0.019000	0.14055	-0.375000	0.07067	GTC		TCGA-IB-7651-01A-11D-2154-08	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	1	0	1	77	344	0	65	0	9.989621e-01	0	47	0	65	2		0	0	0	0	0	2	1	1	76	334	0	65	2								-2.814477	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS6	164656	broad.mit.edu	37	22	37462993	37462993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37462993C>A	ENST00000346753.3	-	17	2266	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.S730I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6			40					CAGAGCGTTGCTGATGGGGCC	0.562000																								0							SO:0001583	missense			ENST00000346753.3	1	1	hg19	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647772	0.67358	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.85777	2.775	0.47123	D	0.999323	D;D	0.76494	0.998;0.999	D;D	0.77557	0.952;0.99	D	0.96516	0.9382	10	0.87932	D	0	.	18.1606	0.89707	0.0:1.0:0.0:0.0	.	730;717	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	I	730;717;708;730	ENSP00000371211:S730I;ENSP00000334962:S717I;ENSP00000385453:S708I;ENSP00000384964:S730I	ENSP00000334962:S717I	S	-	2	0	TMPRSS6	35792939	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	3.654000	0.54453	2.267000	0.75376	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	1	0	1	39	188	0	44	0	1.446809e-01	0	4	0	44	2		0	0	0	0	0	2	1	1	39	185	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TMPRSS6	164656	broad.mit.edu	37	22	37471208	37471208	+	Missense_Mutation	SNP	G	G	A	rs117576908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37471208G>A	ENST00000346753.3	-	11	1452	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R437W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R437W|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R437W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6			40					TAGTGCACCCGCACACCGGGC	0.657000																								0							SO:0001583	missense			ENST00000346753.3	1	0	hg19	CCDS13941.1	15	0.006868131868131868	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	11	0.014511873350923483	G	16.85	3.235515	0.58886	0.002497	0.00686	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.27	5.27	0.74061	CUB (4);	0.130546	0.52532	D	0.000064	T	0.10551	0.0258	N	0.08118	0	0.38107	D	0.937454	P;P	0.49447	0.924;0.876	B;B	0.43123	0.409;0.153	T	0.12344	-1.0551	10	0.37606	T	0.19	.	18.8759	0.92334	0.0:0.0:1.0:0.0	.	437;446	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	W	437;446;437;437	ENSP00000371211:R437W;ENSP00000334962:R446W;ENSP00000385453:R437W;ENSP00000384964:R437W	ENSP00000334962:R446W	R	-	1	2	TMPRSS6	35801154	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.205000	0.77881	2.455000	0.83008	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	1	0	0	53	503	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	1	52	477	0	104	2								-3.142702	1	1	121412	1015	63	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.860000	1.000000	1.000000	0.989190	0.990000	1	9.900000e-01	1
TMPRSS6	164656	broad.mit.edu	37	22	37499282	37499282	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37499282G>A	ENST00000346753.3	-	2	319	c.203C>T	c.(202-204)gCg>gTg	p.A68V	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A59V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6			40					TAGCACCCCCGCCGAAGCCAG	0.627000																								0							SO:0001583	missense			ENST00000346753.3	1	1	hg19	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776603	0.00640	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91740	-2.9;-2.9;-2.9;-2.9;-0.88;-2.44	4.39	-3.81	0.04294	.	0.568873	0.16744	N	0.201301	T	0.76371	0.3978	N	0.14661	0.345	0.09310	N	0.999992	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.66822	-0.5826	10	0.05620	T	0.96	.	6.138	0.20243	0.2238:0.3691:0.4071:0.0	.	68;59;68	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	V	59;68;59;59;68;59	ENSP00000371211:A59V;ENSP00000334962:A68V;ENSP00000385453:A59V;ENSP00000384964:A59V;ENSP00000397691:A68V;ENSP00000400317:A59V	ENSP00000334962:A68V	A	-	2	0	TMPRSS6	35829228	0.412000	0.25392	0.426000	0.26672	0.059000	0.15707	0.133000	0.15912	-0.296000	0.08947	-0.362000	0.07510	GCG		TCGA-IB-7651-01A-11D-2154-08	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	1	0	1	81	307	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1	81	299	0	59	2								-3.518017	1	1	121412	11	41	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL2RB	3560	broad.mit.edu	37	22	37524621	37524621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37524621C>T	ENST00000216223.5	-	10	1369	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta			23				Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCATCAGGGTCTTCCTCTGAG	0.607000																								0							SO:0001583	missense			ENST00000216223.5	1	1	hg19	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023888	0.54683	.	.	ENSG00000100385	ENST00000216223	T	0.08546	3.08	4.28	4.28	0.50868	.	1.830200	0.02534	N	0.093949	T	0.08358	0.0208	N	0.14661	0.345	0.23095	N	0.998308	B	0.24721	0.11	B	0.24848	0.056	T	0.29549	-1.0008	10	0.25751	T	0.34	-6.2193	14.3549	0.66730	0.0:1.0:0.0:0.0	.	391	P14784	IL2RB_HUMAN	N	391	ENSP00000216223:D391N	ENSP00000216223:D391N	D	-	1	0	IL2RB	35854567	0.819000	0.29175	0.385000	0.26158	0.003000	0.03518	1.468000	0.35332	2.349000	0.79799	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1	1	0	1	84	284	0	69	0	9.988623e-01	0	37	0	69	2		0	0	0	0	0	2	1	1	82	279	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL2RB	3560	broad.mit.edu	37	22	37531435	37531435	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37531435G>A	ENST00000216223.5	-	8	949	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta			23				Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCGCTGAGGCCCACGAGG	0.582000																								0							SO:0001583	missense			ENST00000216223.5	1	1	hg19	CCDS13942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420112|2.420112	0.42918|0.42918	.|.	.|.	ENSG00000100385|ENSG00000100385	ENST00000216223|ENST00000447922	D|.	0.97303|.	-4.33|.	3.75|3.75	-1.56|-1.56	0.08532|0.08532	.|.	2.483920|.	0.01435|.	N|.	0.014867|.	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D|.	0.55385|.	0.971|.	P|.	0.55055|.	0.767|.	T|T	0.32640|0.32640	-0.9899|-0.9899	10|5	0.87932|.	D|.	0|.	-11.4288|-11.4288	1.9921|1.9921	0.03448|0.03448	0.1071:0.1639:0.3579:0.3712|0.1071:0.1639:0.3579:0.3712	.|.	251|.	P14784|.	IL2RB_HUMAN|.	F|L	251|5	ENSP00000216223:L251F|.	ENSP00000216223:L251F|.	L|P	-|-	1|2	0|0	IL2RB|IL2RB	35861381|35861381	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.003000|0.003000	0.03518|0.03518	-0.235000|-0.235000	0.09016|0.09016	-0.275000|-0.275000	0.09219|0.09219	-0.311000|-0.311000	0.09066|0.09066	CTC|CCT		TCGA-IB-7651-01A-11D-2154-08	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1	1	0	0	46	531	0	78	0	7.044994e-01	0	30	0	78	2		0	0	0	0	0	2	1	1	45	515	0	76	2								-11.698790	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.960000	0.710000	1.000000	1.000000	0.929374	0.960000	1	8.200000e-01	1
C1QTNF6	114904	broad.mit.edu	37	22	37578258	37578258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578258G>A	ENST00000337843.2	-	3	882	c.807C>T	c.(805-807)agC>agT	p.S269S	RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Silent_p.S145S|C1QTNF6_ENST00000397110.2_Silent_p.S269S	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	p.S269S(1)		11					TGAGGTGGCCGCTGAAGGTGA	0.657000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000337843.2	1	1	hg19	CCDS13943.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	1	0	0	44	163	0	39	1	9.999461e-01	7	52	0	39	2		0	0	0	0	0	2	1	1	44	163	0	39	2								-20.000000	1	0	121412	2	36	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1QTNF6	114904	broad.mit.edu	37	22	37578293	37578293	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578293A>G	ENST00000337843.2	-	3	847	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6			11					TCGTTGCTGTAGATGGCGTTC	0.642000																								0							SO:0001583	missense			ENST00000337843.2	1	1	hg19	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063942	0.55432	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.76316	-1.01;-1.01;-1.01	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.73217	2.22	0.58432	D	0.999995	D;D	0.60575	0.959;0.988	P;P	0.61722	0.749;0.893	D	0.83886	0.0282	10	0.31617	T	0.26	.	14.6139	0.68534	1.0:0.0:0.0:0.0	.	258;239	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	H	258;258;134	ENSP00000380299:Y258H;ENSP00000338812:Y258H;ENSP00000255836:Y134H	ENSP00000255836:Y134H	Y	-	1	0	C1QTNF6	35908239	1.000000	0.71417	0.958000	0.39756	0.141000	0.21300	9.326000	0.96389	1.855000	0.53841	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	1	0	1	46	194	0	41	1	9.999962e-01	13	70	0	41	2		0	0	0	0	0	2	1	1	46	193	0	41	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSTR3	6753	broad.mit.edu	37	22	37603573	37603573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37603573G>A	ENST00000328544.3	-	2	803	c.270C>T	c.(268-270)gaC>gaT	p.D90D	SSTR3_ENST00000402501.1_Silent_p.D90D	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3			14				Pasireotide(DB06663)	TGAAGAGCTCGTCGGCCAGCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000328544.3	0	1	hg19	CCDS13944.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1	0	0	0	12	511	0	89	0	1.939669e-03	0	3	0	89	2		0	0	0	0	0	2	1	9.990685e-01	11	506	0	89	2								-3.420223	1	1	121402	5	41	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.290000	0.150000	1.000000	0.270000	0.360163	0.290000	0	2.100000e-01	4.200000e-01
RAC2	5880	broad.mit.edu	37	22	37637646	37637646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37637646C>T	ENST00000249071.6	-	2	209	c.88G>A	c.(88-90)Gga>Aga	p.G30R	RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000401529.3_Missense_Mutation_p.G30R|RAC2_ENST00000405484.1_Missense_Mutation_p.G23R	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)			12				Dextromethorphan(DB00514)	ATGTACTCTCCGGGAAAGGCG	0.617000																								0							SO:0001583	missense			ENST00000249071.6	1	1	hg19	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915662	0.52546	.	.	ENSG00000128340	ENST00000249071;ENST00000405484;ENST00000441619;ENST00000401529	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.62	3.54	0.40534	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	L	0.57130	1.785	0.80722	D	1	P	0.35944	0.529	B	0.35971	0.215	T	0.70539	-0.4844	10	0.87932	D	0	.	11.6402	0.51228	0.0:0.8554:0.0:0.1446	.	30	P15153	RAC2_HUMAN	R	30;23;30;30	ENSP00000249071:G30R;ENSP00000385590:G23R;ENSP00000403778:G30R;ENSP00000385666:G30R	ENSP00000249071:G30R	G	-	1	0	RAC2	35967592	1.000000	0.71417	0.577000	0.28562	0.080000	0.17528	7.548000	0.82154	0.744000	0.32741	-0.136000	0.14681	GGA		TCGA-IB-7651-01A-11D-2154-08	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1	1	0	1	100	426	0	111	1	1	24	341	0	111	2		0	0	0	0	0	2	1	1	98	415	0	110	2								-2.899377	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELFN2	114794	broad.mit.edu	37	22	37769443	37769443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769443C>T	ENST00000402918.2	-	3	2917	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2			35	Melanoma(58;0.0574)				GGCGGGAAAGCTGTGCCGGTG	0.716000																								0							SO:0001583	missense			ENST00000402918.2	0	1	hg19	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303815	0.81136	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.59772	0.24;0.24	4.93	3.88	0.44766	.	0.226336	0.47093	D	0.000245	T	0.70159	0.3192	L	0.60455	1.87	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	T	0.73139	-0.4077	10	0.87932	D	0	-38.5943	11.9074	0.52719	0.0:0.5396:0.4604:0.0	.	711	Q5R3F8	PPR29_HUMAN	N	711	ENSP00000300147:S711N;ENSP00000385277:S711N	ENSP00000300147:S711N	S	-	2	0	ELFN2	36099389	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.265000	0.75225	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	1	0	1	15	73	0	12	1	4.257432e-01	4	4	0	12	2		0	0	0	0	0	2	1	9.998977e-01	14	71	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999429	0.990000	1	9.900000e-01	1
ELFN2	114794	broad.mit.edu	37	22	37769658	37769658	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769658G>A	ENST00000402918.2	-	3	2702	c.1917C>T	c.(1915-1917)agC>agT	p.S639S	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2			35	Melanoma(58;0.0574)				AGACCTTGGCGCTCTTGATGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000402918.2	1	1	hg19	CCDS33642.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	1	0	0	28	109	0	14	0	4.470709e-02	1	1	0	14	2		0	0	0	0	0	2	1	1	27	107	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ELFN2	114794	broad.mit.edu	37	22	37771157	37771157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37771157C>T	ENST00000402918.2	-	3	1203	c.418G>A	c.(418-420)Gag>Aag	p.E140K	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2			35	Melanoma(58;0.0574)				GTCACCACCTCGATGAGGTTG	0.637000																								0							SO:0001583	missense			ENST00000402918.2	1	1	hg19	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197923	0.58126	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.52295	0.67;0.67	4.51	3.49	0.39957	.	0.056392	0.64402	D	0.000002	T	0.53351	0.1791	L	0.33293	1	0.58432	D	0.999997	D	0.69078	0.997	D	0.63283	0.913	T	0.56001	-0.8051	10	0.62326	D	0.03	-24.9669	12.7421	0.57259	0.0:0.9189:0.0:0.0811	.	140	Q5R3F8	PPR29_HUMAN	K	140	ENSP00000300147:E140K;ENSP00000385277:E140K	ENSP00000300147:E140K	E	-	1	0	ELFN2	36101103	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	7.709000	0.84645	1.042000	0.40150	-0.346000	0.07831	GAG		TCGA-IB-7651-01A-11D-2154-08	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	1	0	1	117	484	0	111	0	0	0	1	0	111	2		0	0	0	0	0	2	1	1	115	479	0	111	2								-3.092281	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARD10	29775	broad.mit.edu	37	22	37892461	37892461	+	Missense_Mutation	SNP	G	G	A	rs142113268		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37892461G>A	ENST00000403299.1	-	14	2270	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_ENST00000406271.3_Missense_Mutation_p.S399L|CARD10_ENST00000251973.5_Missense_Mutation_p.S685L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10			17	Melanoma(58;0.0574)				CTTACCCTTCGAGTCCATCAG	0.637000																								0							SO:0001583	missense			ENST00000403299.1	1	1	hg19	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208596	0.09757	2.27E-4	0.0	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.39229	1.09;2.78;1.09;1.57	4.94	-1.77	0.07982	.	1.591350	0.03379	N	0.200117	T	0.22166	0.0534	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.0;0.002	T	0.07654	-1.0761	10	0.13470	T	0.59	-1.7014	2.3847	0.04363	0.1914:0.2315:0.4599:0.1172	.	685;399	Q9BWT7;Q8NC81	CAR10_HUMAN;.	L	685;399;685;326;157	ENSP00000384570:S685L;ENSP00000385799:S399L;ENSP00000251973:S685L;ENSP00000416239:S326L	ENSP00000251973:S685L	S	-	2	0	CARD10	36222407	0.000000	0.05858	0.038000	0.18304	0.719000	0.41307	-0.083000	0.11286	-0.149000	0.11215	0.561000	0.74099	TCG		TCGA-IB-7651-01A-11D-2154-08	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	1	0	1	52	214	0	51	1	1	77	151	0	51	2		0	0	0	0	0	2	1	1	52	211	0	50	2								-20.000000	1	1	121412	2	29	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42EP1	11135	broad.mit.edu	37	22	37962510	37962510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37962510G>A	ENST00000249014.4	+	2	574	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1			15	Melanoma(58;0.0574)				CATGCATGTGGGCCGTGGCGG	0.647000																								0							SO:0001583	missense			ENST00000249014.4	0	1	hg19	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690146	0.88735	.	.	ENSG00000128283	ENST00000249014;ENST00000430687;ENST00000415670	D;D;D	0.94092	-3.35;-3.35;-3.35	4.99	4.99	0.66335	PAK-box/P21-Rho-binding (3);	0.070772	0.56097	D	0.000027	D	0.96552	0.8875	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96980	0.9714	10	0.72032	D	0.01	-31.7756	18.6422	0.91399	0.0:0.0:1.0:0.0	.	52	Q00587	BORG5_HUMAN	S	52	ENSP00000249014:G52S;ENSP00000411682:G52S;ENSP00000405006:G52S	ENSP00000249014:G52S	G	+	1	0	CDC42EP1	36292456	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.828000	0.86729	2.465000	0.83290	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	0	0	0	8	210	0	36	1	9.961951e-01	14	259	0	36	2		0	0	0	0	0	2	1	9.889510e-01	8	206	0	33	2								-9.949141	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.470000	0.210000	1.000000	0.430000	0.526405	0.470000	0	3.200000e-01	7.200000e-01
GGA1	26088	broad.mit.edu	37	22	38019351	38019351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38019351G>T	ENST00000343632.4	+	8	1013	c.627G>T	c.(625-627)gaG>gaT	p.E209D	GGA1_ENST00000406772.1_Missense_Mutation_p.E136D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D|GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000381756.5_Missense_Mutation_p.E226D	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1			10	Melanoma(58;0.0574)				AGCGGATGGAGAAGATCTCGA	0.587000											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000343632.4	1	1	hg19	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256362	0.80246	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.05	0.359	0.16088	GAT (2);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.87180	2.865	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.875	D;D;P	0.91635	0.999;0.995;0.627	T	0.61884	-0.6971	10	0.27082	T	0.32	-29.7801	10.6864	0.45846	0.3379:0.0:0.6621:0.0	.	226;209;209	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	D	209;226;209;176;201;136	ENSP00000341344:E209D;ENSP00000371175:E226D;ENSP00000321288:E209D;ENSP00000338647:E176D;ENSP00000390416:E201D;ENSP00000385287:E136D	ENSP00000321288:E209D	E	+	3	2	GGA1	36349297	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.076000	0.57591	0.159000	0.19401	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	1	0	1	177	983	0	198	1	1	44	99	0	198	2		0	0	0	0	0	2	1	1	177	971	0	197	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3BP1	23616	broad.mit.edu	37	22	38038957	38038957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38038957G>A	ENST00000357436.4	+	5	653	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|SH3BP1_ENST00000599616.1_Missense_Mutation_p.E50K|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1			13	Melanoma(58;0.0574)				CATCCTGGCCGAGTTTGAGAT	0.642000											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000357436.4	1	1	hg19	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099966	0.76983	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.64618	-0.11;-0.11;-0.11	4.51	4.51	0.55191	BAR (2);	0.111773	0.39274	N	0.001419	T	0.70753	0.3260	L	0.43152	1.355	0.42677	D	0.993533	P;D;D;D;D	0.89917	0.763;1.0;0.992;1.0;1.0	B;D;P;D;D	0.69824	0.245;0.966;0.557;0.966;0.966	T	0.68640	-0.5355	10	0.31617	T	0.26	.	15.5694	0.76323	0.0:0.0:1.0:0.0	.	114;28;50;114;28	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	K	114;114;114;28	ENSP00000350018:E114K;ENSP00000337213:E114K;ENSP00000395126:E114K	ENSP00000337213:E114K	E	+	1	0	SH3BP1	36368903	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.545000	0.53648	2.338000	0.79540	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	1	0	1	63	341	0	85	1	9.997710e-01	6	63	0	85	2		0	0	0	0	0	2	1	1	62	331	0	83	2								-2.926536	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3BP1	23616	broad.mit.edu	37	22	38043329	38043329	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043329C>T	ENST00000357436.4	+	12	1405	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	SH3BP1_ENST00000442465.2_Silent_p.L364L|SH3BP1_ENST00000599616.1_Silent_p.L300L|SH3BP1_ENST00000336738.5_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1			13	Melanoma(58;0.0574)				CCTTCGACCTCTATGATGACT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000357436.4	1	1	hg19	CCDS13952.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	0	0	0	23	683	0	142	1	6.378512e-01	2	63	0	142	2		0	0	0	0	0	2	1	9.999992e-01	22	674	0	139	2								-2.707588	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.400000	0.250000	1.000000	0.380000	0.458217	0.400000	0	3.200000e-01	5.200000e-01
SH3BP1	23616	broad.mit.edu	37	22	38043498	38043498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043498G>A	ENST00000357436.4	+	13	1482	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|SH3BP1_ENST00000599616.1_Missense_Mutation_p.R326H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1			13	Melanoma(58;0.0574)				GTGTGCAGCCGCCTACCCCCC	0.701000																								0							SO:0001583	missense			ENST00000357436.4	1	1	hg19	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683971	0.29872	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18960	2.18;2.18;2.18	5.52	3.42	0.39159	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.214766	0.32624	N	0.005850	T	0.36853	0.0982	L	0.53249	1.67	0.09310	N	1	B;D;B;P;D	0.89917	0.043;1.0;0.047;0.919;1.0	B;D;B;B;D	0.74348	0.013;0.983;0.012;0.189;0.983	T	0.04961	-1.0915	10	0.72032	D	0.01	.	9.3123	0.37912	0.2242:0.0:0.7758:0.0	.	390;304;326;390;304	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	H	390;390;390;304	ENSP00000350018:R390H;ENSP00000337213:R390H;ENSP00000395126:R390H	ENSP00000337213:R390H	R	+	2	0	SH3BP1	36373444	0.037000	0.19845	0.997000	0.53966	0.303000	0.27691	1.677000	0.37576	1.353000	0.45828	-0.439000	0.05793	CGC		TCGA-IB-7651-01A-11D-2154-08	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	0	0	0	34	153	0	32	1	9.999143e-01	22	47	0	32	2		0	0	0	0	0	2	1	1	33	146	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TRIOBP	11078	broad.mit.edu	37	22	38120147	38120147	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38120147A>G	ENST00000406386.3	+	7	1839	c.1584A>G	c.(1582-1584)acA>acG	p.T528T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein			12	Melanoma(58;0.0574)				ACCCCAGAACATCCTGCGCCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000406386.3	1	1	hg19	CCDS43015.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	1	0	0	112	861	0	290	0	0	1	0	0	290	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
TRIOBP	11078	broad.mit.edu	37	22	38165063	38165063	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38165063C>T	ENST00000406386.3	+	20	6859	c.6604C>T	c.(6604-6606)Ctg>Ttg	p.L2202L	TRIOBP_ENST00000403663.2_Silent_p.L489L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein			12	Melanoma(58;0.0574)				GAAGCGAGAGCTGCAGGTGCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000406386.3	1	1	hg19	CCDS43015.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	1	0	1	53	290	0	85	1	1	51	91	0	85	2		0	0	0	0	0	2	1	1	53	287	0	85	2								-20.000000	1	1	121336	1	24	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCAT	23464	broad.mit.edu	37	22	38208974	38208974	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38208974C>T	ENST00000248924.6	+	3	464	c.408C>T	c.(406-408)gaC>gaT	p.D136D	GCAT_ENST00000323205.6_Silent_p.D162D|GCAT_ENST00000415371.1_3'UTR	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase			12	Melanoma(58;0.045)			Glycine(DB00145)	GCTGTTATGACGCCAACGCCG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000248924.6	1	1	hg19	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	C	4.950	0.176494	0.09443	.	.	ENSG00000100116	ENST00000451984	.	.	.	5.73	1.01	0.19927	.	.	.	.	.	T	0.56963	0.2021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49466	-0.8937	4	.	.	.	-19.321	8.9862	0.35994	0.0:0.2989:0.0:0.7011	.	.	.	.	M	121	.	.	T	+	2	0	GCAT	36538920	1.000000	0.71417	0.998000	0.56505	0.464000	0.32679	0.826000	0.27407	0.112000	0.17975	-0.290000	0.09829	ACG		TCGA-IB-7651-01A-11D-2154-08	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	1	0	1	67	347	0	81	1	9.997415e-01	26	39	0	81	2		0	0	0	0	0	2	1	1	66	338	0	79	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD54	129138	broad.mit.edu	37	22	38228671	38228671	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38228671G>A	ENST00000215941.4	-	7	993	c.801C>T	c.(799-801)cgC>cgT	p.R267R	ANKRD54_ENST00000406423.1_Silent_p.R147R|ANKRD54_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000609454.1_Silent_p.R74R	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54			1	Melanoma(58;0.045)				TCATCTGCAGGCGGGTGCAGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000215941.4	0	1	hg19	CCDS13959.1	.	.	.	.	.	.	.	.	.	.	G	1.387	-0.581820	0.03827	.	.	ENSG00000100124	ENST00000458278	.	.	.	5.59	0.318	0.15867	.	.	.	.	.	T	0.51346	0.1669	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37686	-0.9695	4	.	.	.	-2.3947	5.602	0.17359	0.1421:0.3334:0.4339:0.0905	.	.	.	.	V	183	.	.	A	-	2	0	ANKRD54	36558617	1.000000	0.71417	0.993000	0.49108	0.085000	0.17905	2.009000	0.40903	0.025000	0.15241	-0.813000	0.03139	GCC		TCGA-IB-7651-01A-11D-2154-08	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	0	0	0	9	377	0	66	1	7.134314e-01	11	93	0	66	2		0	0	0	0	0	2	1	9.937047e-01	9	369	0	65	2								-8.694839	1	1	121412	3	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.300000	0.140000	1.000000	0.280000	0.370063	0.300000	0	2.000000e-01	4.500000e-01
EIF3L	51386	broad.mit.edu	37	22	38273869	38273869	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38273869G>A	ENST00000412331.2	+	11	1848	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	EIF3L_ENST00000406934.1_Silent_p.S324S|EIF3L_ENST00000381683.6_Silent_p.S374S	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L			15					AGTTCCTGTCGCCTGTAGTGC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000412331.2	1	1	hg19	CCDS13960.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	1	0	1	68	340	0	81	1	1	373	1143	0	81	2	1	1	57	233	0	296	2	1	1	66	319	0	82	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MICALL1	85377	broad.mit.edu	37	22	38308394	38308394	+	Missense_Mutation	SNP	G	G	A	rs114708609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308394G>A	ENST00000215957.6	+	3	358	c.232G>A	c.(232-234)Gct>Act	p.A78T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	p.A78T(1)		24	Melanoma(58;0.045)				GGGGATCCCCGCTCTCCTGGA	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000215957.6	1	1	hg19	CCDS13961.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.488600	0.96323	0.001362	1.16E-4	ENSG00000100139	ENST00000215957	D	0.94793	-3.52	4.69	4.69	0.59074	Calponin homology domain (5);	0.310182	0.22740	N	0.056202	D	0.96935	0.8999	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97262	0.9905	10	0.66056	D	0.02	.	18.2487	0.89996	0.0:0.0:1.0:0.0	.	78	Q8N3F8	MILK1_HUMAN	T	78	ENSP00000215957:A78T	ENSP00000215957:A78T	A	+	1	0	MICALL1	36638340	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.604000	0.82830	2.609000	0.88269	0.632000	0.83419	GCT		TCGA-IB-7651-01A-11D-2154-08	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	1	0	1	66	319	0	85	1	9.914076e-01	8	30	0	85	2		0	0	0	0	0	2	1	1	64	313	0	85	2								-3.155154	1	0	121412	33	46	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MICALL1	85377	broad.mit.edu	37	22	38308422	38308422	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308422C>A	ENST00000215957.6	+	3	386	c.260C>A	c.(259-261)tCc>tAc	p.S87Y		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1			24	Melanoma(58;0.045)				GACATGGTCTCCATGAGCGTC	0.592000																								0							SO:0001583	missense			ENST00000215957.6	1	1	hg19	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000656	0.74818	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	T;D	0.94184	-0.82;-3.37	4.81	3.78	0.43462	Calponin homology domain (5);	0.462106	0.18277	N	0.146127	D	0.95529	0.8547	L	0.58302	1.8	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95483	0.8562	10	0.59425	D	0.04	.	15.5965	0.76587	0.0:0.8619:0.138:0.0	.	87	Q8N3F8	MILK1_HUMAN	Y	3;87	ENSP00000404543:S3Y;ENSP00000215957:S87Y	ENSP00000215957:S87Y	S	+	2	0	MICALL1	36638368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.958000	0.49145	1.387000	0.46486	0.632000	0.83419	TCC		TCGA-IB-7651-01A-11D-2154-08	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	1	0	1	89	335	0	89	1	9.981350e-01	5	33	0	89	2		0	0	0	0	0	2	1	1	89	332	0	88	2								-3.856785	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MICALL1	85377	broad.mit.edu	37	22	38308468	38308468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308468G>T	ENST00000215957.6	+	3	432	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1			24	Melanoma(58;0.045)				ATGTGTCCCAGTATTACAACC	0.602000																								0							SO:0001583	missense			ENST00000215957.6	1	1	hg19	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513329	0.85389	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	D;D	0.95377	-2.12;-3.69	4.81	3.78	0.43462	Calponin homology domain (5);	0.563079	0.15342	N	0.267424	D	0.97701	0.9246	M	0.89414	3.03	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.97047	0.9761	10	0.37606	T	0.19	.	13.8851	0.63704	0.0744:0.0:0.9256:0.0	.	102	Q8N3F8	MILK1_HUMAN	H	18;102	ENSP00000404543:Q18H;ENSP00000215957:Q102H	ENSP00000215957:Q102H	Q	+	3	2	MICALL1	36638414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.548000	0.67255	1.395000	0.46643	0.632000	0.83419	CAG		TCGA-IB-7651-01A-11D-2154-08	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	1	0	1	52	381	0	87	1	9.810611e-01	2	46	0	87	2		0	0	0	0	0	2	1	1	51	373	0	87	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999784	0.990000	1	9.900000e-01	1
MICALL1	85377	broad.mit.edu	37	22	38323737	38323737	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38323737G>A	ENST00000215957.6	+	9	1911	c.1785G>A	c.(1783-1785)aaG>aaA	p.K595K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1			24	Melanoma(58;0.045)				AGCCAGCCAAGCCCTGCAGTG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000215957.6	1	1	hg19	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032402	0.07543	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75079	0.3801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73723	-0.3893	4	.	.	.	.	19.1255	0.93382	0.0:0.0:1.0:0.0	.	.	.	.	T	173	.	.	A	+	1	0	MICALL1	36653683	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	3.334000	0.52097	2.513000	0.84729	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	1	0	0	164	714	0	125	1	9.997937e-01	12	43	0	125	2		0	0	0	0	0	2	1	1	161	707	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PICK1	9463	broad.mit.edu	37	22	38470346	38470346	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38470346C>T	ENST00000404072.3	+	12	1214	c.867C>T	c.(865-867)acC>acT	p.T289T	PICK1_ENST00000356976.3_Silent_p.T289T|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1			13	Melanoma(58;0.045)				GGGTGAGCACCGGCAACTATG	0.672000											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000404072.3	1	1	hg19	CCDS13965.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	1	0	0	56	235	0	41	1	9.999997e-01	32	65	0	41	2		0	0	0	0	0	2	1	1	55	227	0	38	2								-3.440681	1	1	121292	1	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAIAP2L2	80115	broad.mit.edu	37	22	38505149	38505149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38505149C>T	ENST00000381669.3	-	2	262	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2			8	Melanoma(58;0.045)				CCGTGGAAGGCACGCAGGTAG	0.637000																								0							SO:0001583	missense			ENST00000381669.3	1	1	hg19	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189363	0.57909	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	5.03	3.97	0.46021	IRSp53/MIM homology domain (IMD) (3);	0.055036	0.64402	D	0.000001	T	0.67173	0.2865	M	0.80616	2.505	0.58432	D	0.999999	P	0.35872	0.525	B	0.39258	0.295	T	0.71573	-0.4552	9	0.66056	D	0.02	-1.8304	14.3751	0.66867	0.1494:0.8506:0.0:0.0	.	40	Q6UXY1	BI2L2_HUMAN	T	40	.	ENSP00000328876:A40T	A	-	1	0	BAIAP2L2	36835095	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.721000	0.54941	1.034000	0.39945	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	1	0	1	47	228	0	69	1	1	135	139	0	69	2		0	0	0	0	0	2	1	1	45	223	0	67	2								-3.278430	1	1	120796	1	24	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G6	8398	broad.mit.edu	37	22	38512102	38512102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38512102C>A	ENST00000332509.3	-	13	2042	c.1859G>T	c.(1858-1860)aGg>aTg	p.R620M	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)			24	Melanoma(58;0.045)			Quinacrine(DB01103)	AGCTGGAGGCCTGAGGTTAAC	0.582000																								0							SO:0001583	missense			ENST00000332509.3	1	1	hg19	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	c	13.60	2.285178	0.40394	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.80480	-1.38;-1.38;-1.38	4.57	-2.08	0.07254	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.372399	0.30771	N	0.008917	T	0.78761	0.4334	M	0.67700	2.07	0.25226	N	0.989869	B;P	0.37176	0.32;0.586	B;P	0.46419	0.176;0.516	T	0.72077	-0.4399	10	0.62326	D	0.03	-17.3447	6.2876	0.21041	0.0:0.3876:0.1364:0.476	.	566;620	O60733-2;O60733	.;PA2G6_HUMAN	M	620;481;566;566	ENSP00000333142:R620M;ENSP00000335149:R566M;ENSP00000386100:R566M	ENSP00000333142:R620M	R	-	2	0	PLA2G6	36842048	0.034000	0.19679	0.497000	0.27552	0.065000	0.16274	0.078000	0.14761	-0.412000	0.07519	-0.258000	0.10820	AGG		TCGA-IB-7651-01A-11D-2154-08	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	1	0	1	53	239	0	64	1	7.510461e-01	3	11	0	64	2		0	0	0	0	0	2	1	1	50	237	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G6	8398	broad.mit.edu	37	22	38516823	38516823	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38516823T>C	ENST00000332509.3	-	12	1868	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G	PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G|PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)			24	Melanoma(58;0.045)			Quinacrine(DB01103)	CTTCAGGAACTCCTCCAGGGG	0.622000																								0							SO:0001583	missense			ENST00000332509.3	1	1	hg19	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641152	0.47153	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.78364	-1.17;-1.17;-1.17	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.164580	0.53938	N	0.000044	D	0.83936	0.5362	L	0.58101	1.795	0.80722	D	1	D;B	0.63880	0.993;0.004	P;B	0.60886	0.88;0.016	D	0.83691	0.0177	10	0.40728	T	0.16	-41.0939	15.5648	0.76281	0.0:0.0:0.0:1.0	.	508;562	O60733-2;O60733	.;PA2G6_HUMAN	G	562;423;508;508	ENSP00000333142:E562G;ENSP00000335149:E508G;ENSP00000386100:E508G	ENSP00000333142:E562G	E	-	2	0	PLA2G6	36846769	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.272000	0.78516	2.071000	0.62044	0.454000	0.30748	GAG		TCGA-IB-7651-01A-11D-2154-08	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	0	0	1	104	603	0	137	1	7.057754e-01	3	13	0	137	2		0	0	0	0	0	2	1	1	104	588	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G6	8398	broad.mit.edu	37	22	38531004	38531004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531004C>A	ENST00000332509.3	-	6	1068	c.885G>T	c.(883-885)aaG>aaT	p.K295N	PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N|PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)			24	Melanoma(58;0.045)			Quinacrine(DB01103)	CCTCTGCGTTCTTGGCCCAGT	0.657000																								0							SO:0001583	missense			ENST00000332509.3	1	1	hg19	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.862454|2.862454	0.51482|0.51482	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.62941|.	-0.01;-0.01;-0.01|.	5.67|5.67	2.51|2.51	0.30379|0.30379	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13098|0.13098	0.295|0.295	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	1.0;1.0;0.993|.	D;D;D|.	0.91635|.	0.999;0.997;0.917|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.25106|.	T|.	0.35|.	-42.4992|-42.4992	8.61|8.61	0.33797|0.33797	0.0:0.6465:0.0:0.3535|0.0:0.6465:0.0:0.3535	.|.	260;295;295|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	N|I	295;156;295;295;223;295;260|100;47;126	ENSP00000333142:K295N;ENSP00000335149:K295N;ENSP00000386100:K295N|.	ENSP00000333142:K295N|.	K|R	-|-	3|2	2|0	PLA2G6|PLA2G6	36860950|36860950	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.453000|0.453000	0.32348|0.32348	0.802000|0.802000	0.27069|0.27069	0.352000|0.352000	0.24053|0.24053	-0.254000|-0.254000	0.11334|0.11334	AAG|AGA		TCGA-IB-7651-01A-11D-2154-08	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	1	0	1	37	164	0	59	1	5.204254e-01	2	7	0	59	2		0	0	0	0	0	2	1	1	35	162	0	58	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G6	8398	broad.mit.edu	37	22	38531055	38531055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531055C>A	ENST00000332509.3	-	6	1017	c.834G>T	c.(832-834)caG>caT	p.Q278H	PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q278H|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q278H	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)			24	Melanoma(58;0.045)			Quinacrine(DB01103)	TGCTGTGGATCTGGCTGCTGT	0.647000																								0							SO:0001583	missense			ENST00000332509.3	0	1	hg19	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.571138|4.571138	0.86542|0.86542	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.64803|.	-0.12;-0.12;-0.12|.	5.67|5.67	4.65|4.65	0.58169|0.58169	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62048|0.62048	0.2396|0.2396	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.91635|.	0.999;0.997;0.94|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|5	0.49607|.	T|.	0.09|.	-36.4843|-36.4843	14.9064|14.9064	0.70724|0.70724	0.0:0.9304:0.0:0.0696|0.0:0.9304:0.0:0.0696	.|.	243;278;278|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	H|I	278;139;278;278;206;278;243|83;30;109	ENSP00000333142:Q278H;ENSP00000335149:Q278H;ENSP00000386100:Q278H|.	ENSP00000333142:Q278H|.	Q|R	-|-	3|2	2|0	PLA2G6|PLA2G6	36861001|36861001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.159000|4.159000	0.58157|0.58157	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	CAG|AGA		TCGA-IB-7651-01A-11D-2154-08	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	0	0	0	7	223	0	63	0	7.641060e-02	0	13	0	63	2		0	0	0	0	0	2	1	9.791932e-01	7	217	0	63	2								-8.429846	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.390000	0.170000	1.000000	0.360000	0.459447	0.390000	0	2.600000e-01	6.200000e-01
MAFF	23764	broad.mit.edu	37	22	38610487	38610487	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610487T>C	ENST00000338483.2	+	3	459	c.97T>C	c.(97-99)Tcg>Ccg	p.S33P	MAFF_ENST00000407965.1_Missense_Mutation_p.S33P|MAFF_ENST00000426621.2_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000538320.1_Missense_Mutation_p.S33P			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F			3	Melanoma(58;0.045)				GATGGGGCTGTCGGTGCGCGA	0.672000																								0							SO:0001583	missense			ENST00000338483.2	1	1	hg19	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644350	0.87859	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	3.92	3.92	0.45320	Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.077114	0.53938	D	0.000044	D	0.95127	0.8421	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93992	0.7268	10	0.32370	T	0.25	-5.0985	12.7691	0.57410	0.0:0.0:0.0:1.0	.	33	Q9ULX9	MAFF_HUMAN	P	33;33;4;4;33;33;33	ENSP00000345393:S33P;ENSP00000442060:S33P;ENSP00000441482:S4P;ENSP00000391589:S4P;ENSP00000416493:S33P;ENSP00000388882:S33P;ENSP00000384094:S33P	ENSP00000345393:S33P	S	+	1	0	MAFF	36940433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.154000	0.71826	1.404000	0.46819	0.374000	0.22700	TCG		TCGA-IB-7651-01A-11D-2154-08	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	1	0	1	19	165	0	26	1	9.999829e-01	56	111	0	26	2		0	0	0	0	0	2	1	9.999912e-01	19	160	0	25	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.780000	1.000000	1.000000	0.981780	0.990000	1	9.900000e-01	1
MAFF	23764	broad.mit.edu	37	22	38610560	38610560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610560G>A	ENST00000338483.2	+	3	532	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MAFF_ENST00000407965.1_Missense_Mutation_p.R57H|MAFF_ENST00000426621.2_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000538320.1_Missense_Mutation_p.R57H			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F			3	Melanoma(58;0.045)				CAGCGGCGCCGCACACTCAAA	0.682000																								0							SO:0001583	missense			ENST00000338483.2	0	1	hg19	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570085	0.96540	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	3.92	3.92	0.45320	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99811	1.1041	10	0.87932	D	0	-9.8937	15.9272	0.79628	0.0:0.0:1.0:0.0	.	57	Q9ULX9	MAFF_HUMAN	H	57;57;28;28;57;57;57	ENSP00000345393:R57H;ENSP00000442060:R57H;ENSP00000441482:R28H;ENSP00000391589:R28H;ENSP00000416493:R57H;ENSP00000388882:R57H;ENSP00000384094:R57H	ENSP00000345393:R57H	R	+	2	0	MAFF	36940506	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.670000	0.98625	1.719000	0.51432	0.455000	0.32223	CGC		TCGA-IB-7651-01A-11D-2154-08	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	1	0	0	21	78	0	12	1	9.999983e-01	44	50	0	12	2		0	0	0	0	0	2	1	9.999988e-01	21	76	0	12	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
TMEM184B	25829	broad.mit.edu	37	22	38643832	38643832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38643832C>T	ENST00000361906.3	-	2	344	c.136G>A	c.(136-138)Gct>Act	p.A46T	TMEM184B_ENST00000361684.4_Missense_Mutation_p.A46T	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B			8	Melanoma(58;0.045)				ATGGCCTGAGCGGCAGTTGTC	0.637000																								0							SO:0001583	missense			ENST00000361906.3	0	1	hg19	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772239	0.90108	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.44083	0.93;0.93	4.66	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.80982	2.52	0.80722	D	1	D	0.61080	0.989	P	0.62491	0.903	T	0.64019	-0.6505	10	0.44086	T	0.13	.	12.9039	0.58141	0.0:0.9207:0.0:0.0793	.	46	Q9Y519	T184B_HUMAN	T	46	ENSP00000355210:A46T;ENSP00000354441:A46T	ENSP00000354441:A46T	A	-	1	0	TMEM184B	36973778	1.000000	0.71417	0.141000	0.22245	0.966000	0.64601	5.569000	0.67391	0.960000	0.38005	0.491000	0.48974	GCT		TCGA-IB-7651-01A-11D-2154-08	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	0	0	0	5	147	0	21	1	9.885793e-01	6	256	0	21	2		0	0	0	0	0	2	1	9.364136e-01	5	145	0	21	2								-7.320361	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.440000	0.160000	1.000000	0.380000	0.501749	0.440000	0	2.700000e-01	7.300000e-01
KCNJ4	3761	broad.mit.edu	37	22	38823648	38823648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823648C>T	ENST00000303592.3	-	2	748	c.490G>A	c.(490-492)Gac>Aac	p.D164N	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4			23	Melanoma(58;0.0286)				ATGAAGGAGTCGATGACGCAG	0.627000																								0							SO:0001583	missense			ENST00000303592.3	1	1	hg19	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398230	0.62177	.	.	ENSG00000168135	ENST00000303592	D	0.93712	-3.27	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93955	0.7235	10	0.26408	T	0.33	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	164	P48050	IRK4_HUMAN	N	164	ENSP00000306497:D164N	ENSP00000306497:D164N	D	-	1	0	KCNJ4	37153594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.071000	0.71229	2.472000	0.83506	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	1	0	1	62	247	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	62	247	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNJ4	3761	broad.mit.edu	37	22	38823876	38823876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823876C>A	ENST00000303592.3	-	2	520	c.262G>T	c.(262-264)Gag>Tag	p.E88*	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4			23	Melanoma(58;0.0286)				GGGCTGGCCTCCAGGTCACCG	0.672000																								0							SO:0001587	stop_gained			ENST00000303592.3	0	1	hg19	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695931	0.96802	.	.	ENSG00000168135	ENST00000303592	.	.	.	4.8	4.8	0.61643	.	13.954000	0.01991	U	0.045513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.7734	0.63039	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000306497:E88X	E	-	1	0	KCNJ4	37153822	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.020000	0.70826	2.392000	0.81423	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	1	0	1	54	232	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	49	218	0	38	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMC1	11144	broad.mit.edu	37	22	38933650	38933650	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38933650G>A	ENST00000216024.2	-	12	1059	c.783C>T	c.(781-783)aaC>aaT	p.N261N	DMC1_ENST00000428462.2_Silent_p.N206N	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1			11	Melanoma(58;0.0286)				AAACAGCCACGTTATATTCTG	0.318000								Homologous recombination																0							SO:0001819	synonymous_variant			ENST00000216024.2	1	1	hg19	CCDS13973.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	1	0	1	63	298	0	49	0	0	1	0	0	49	2		0	0	0	0	0	2	1	1	59	288	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBY1	25776	broad.mit.edu	37	22	39067160	39067160	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39067160C>A	ENST00000216029.3	+	4	404	c.270C>A	c.(268-270)ctC>ctA	p.L90L	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)			4	Melanoma(58;0.04)				AGAACAATCTCTTGCGGCTGA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000216029.3	1	1	hg19	CCDS13974.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	1	0	1	114	447	0	107	1	1	45	99	0	107	2		0	0	0	0	0	2	1	1	114	442	0	104	2								-3.406589	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUN2	25777	broad.mit.edu	37	22	39135889	39135889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39135889G>A	ENST00000405510.1	-	14	1774	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	SUN2_ENST00000405018.1_Silent_p.R493R|RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000406622.1_Silent_p.R472R|RP3-508I15.18_ENST00000420118.1_RNA|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Silent_p.R472R	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2			15					GGAGCCCCACGCGGCCCCCTC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000405510.1	1	1	hg19	CCDS13978.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	1	0	1	150	742	0	164	1	1	100	375	0	164	2		0	0	0	0	0	2	1	1	149	732	0	164	2								-20.000000	1	1	121408	2	35	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUN2	25777	broad.mit.edu	37	22	39141701	39141701	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141701C>T	ENST00000405510.1	-	9	1159	c.801G>A	c.(799-801)tcG>tcA	p.S267S	SUN2_ENST00000405018.1_Silent_p.S288S|RP3-508I15.22_ENST00000607991.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000411587.2_Silent_p.S256S|SUN2_ENST00000406622.1_Silent_p.S267S|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Silent_p.S267S	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2			15					GGAAATGTGGCGATGAGTCTC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000405510.1	0	1	hg19	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.492060	0.01009	2.27E-4	0.0	ENSG00000100242	ENST00000430185	.	.	.	4.76	-0.16	0.13375	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	-6.1881	7.6254	0.28210	0.0:0.2975:0.402:0.3005	.	.	.	.	H	124	.	.	R	-	2	0	SUN2	37471647	0.273000	0.24181	0.002000	0.10522	0.005000	0.04900	0.829000	0.27449	0.100000	0.17581	-1.602000	0.00811	CGC		TCGA-IB-7651-01A-11D-2154-08	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	0	0	0	8	252	0	48	1	9.995627e-01	20	478	0	48	2		0	0	0	0	0	2	1	9.882779e-01	8	244	0	48	2								-3.638271	1	0	121412	5	37	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.400000	0.180000	1.000000	0.360000	0.458926	0.400000	0	2.700000e-01	6.100000e-01
SUN2	25777	broad.mit.edu	37	22	39141735	39141735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141735C>T	ENST00000405510.1	-	9	1125	c.767G>A	c.(766-768)aGg>aAg	p.R256K	SUN2_ENST00000405018.1_Missense_Mutation_p.R277K|RP3-508I15.22_ENST00000607991.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R245K|SUN2_ENST00000406622.1_Missense_Mutation_p.R256K|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2			15					CTCATCCGGCCTCCTGCTGTC	0.567000																								0							SO:0001583	missense			ENST00000405510.1	0	1	hg19	CCDS13978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.702|0.702	-0.790583|-0.790583	0.02884|0.02884	.|.	.|.	ENSG00000100242|ENSG00000100242	ENST00000430185|ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058	.|T;T;T;T;T;T	.|0.30448	.|2.76;2.76;2.78;2.76;2.76;1.53	5.35|5.35	-7.91|-7.91	0.01165|0.01165	.|.	.|1.479880	.|0.04075	.|N	.|0.308683	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.001;0.0	T|T	0.29822|0.29822	-0.9999|-0.9999	5|10	.|0.13470	.|T	.|0.59	-2.6364|-2.6364	10.0122|10.0122	0.41992|0.41992	0.0:0.2353:0.1106:0.6541|0.0:0.2353:0.1106:0.6541	.|.	.|245;291;256;277;256	.|B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.|.;.;.;.;SUN2_HUMAN	S|K	113|256;256;277;256;245;210	.|ENSP00000385740:R256K;ENSP00000216064:R256K;ENSP00000385616:R277K;ENSP00000383992:R256K;ENSP00000395601:R245K;ENSP00000406941:R210K	.|ENSP00000216064:R256K	G|R	-|-	1|2	0|0	SUN2|SUN2	37471681|37471681	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.548000|-0.548000	0.06048|0.06048	-1.264000|-1.264000	0.02452|0.02452	-0.878000|-0.878000	0.02970|0.02970	GGC|AGG		TCGA-IB-7651-01A-11D-2154-08	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	0	0	0	6	203	0	36	1	9.982589e-01	27	426	0	36	2		0	0	0	0	0	2	1	9.629460e-01	5	199	0	35	2								-7.958016	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.380000	0.150000	1.000000	0.330000	0.444972	0.380000	0	2.400000e-01	6.100000e-01
DNAL4	10126	broad.mit.edu	37	22	39176946	39176946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39176946G>T	ENST00000216068.4	-	3	382	c.138C>A	c.(136-138)ttC>ttA	p.F46L	SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L|DNAL4_ENST00000486019.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4			2	Melanoma(58;0.04)				TGTTGTTGGAGAATTTCTCAC	0.557000																								0							SO:0001583	missense			ENST00000216068.4	1	1	hg19	CCDS13979.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310387	0.60414	.	.	ENSG00000100246	ENST00000216068;ENST00000406199	.	.	.	5.21	4.2	0.49525	.	0.193608	0.56097	D	0.000037	T	0.65281	0.2676	M	0.81239	2.535	0.51012	D	0.999905	B	0.21225	0.053	B	0.35353	0.201	T	0.66654	-0.5869	9	0.48119	T	0.1	.	7.6392	0.28284	0.2353:0.0:0.7647:0.0	.	46	O96015	DNAL4_HUMAN	L	46	.	ENSP00000216068:F46L	F	-	3	2	DNAL4	37506892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.204000	0.42761	2.428000	0.82296	0.561000	0.74099	TTC		TCGA-IB-7651-01A-11D-2154-08	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321032.1	1	0	1	37	168	0	51	1	1	31	97	0	51	2		0	0	0	0	0	2	1	1	37	165	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOBEC3B	9582	broad.mit.edu	37	22	39387493	39387493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39387493C>T	ENST00000333467.3	+	6	925	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R294C|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B			13	Melanoma(58;0.04)				CGGGGAAGTGCGTGCGTTCCT	0.582000																								0							SO:0001583	missense			ENST00000333467.3	0	1	hg19	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	3.119	-0.181057	0.06380	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66638	-0.22;-0.22;-0.22	2.0	-3.51	0.04696	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.52125	0.1715	L	0.55743	1.74	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.48352	-0.9043	9	0.72032	D	0.01	.	0.9054	0.01283	0.2574:0.3452:0.2302:0.1673	.	269;294	B0QYD2;Q9UH17	.;ABC3B_HUMAN	C	269;294;294	ENSP00000385068:R269C;ENSP00000385060:R294C;ENSP00000327459:R294C	ENSP00000327459:R294C	R	+	1	0	APOBEC3B	37717439	0.197000	0.23362	0.000000	0.03702	0.000000	0.00434	0.362000	0.20284	-0.801000	0.04427	-1.842000	0.00583	CGT		TCGA-IB-7651-01A-11D-2154-08	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	0	0	0	23	1047	0	190	0	2.477845e-02	0	11	0	190	2		0	0	0	0	0	2	1	9.999977e-01	21	941	0	251	2								-2.820130	1	1	119976	1	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.260000	0.160000	1.000000	0.250000	0.335980	0.260000	0	2.000000e-01	3.500000e-01
APOBEC3D	140564	broad.mit.edu	37	22	39418964	39418964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39418964C>T	ENST00000216099.8	+	2	562	c.155C>T	c.(154-156)aCa>aTa	p.T52I	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D			11	Melanoma(58;0.04)				CTTTGGGACACAGGGGTCTTT	0.493000																								0							SO:0001583	missense			ENST00000216099.8	1	1	hg19	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.849772	0.32699	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.64260	-0.09;-0.09;0.03	2.36	-4.72	0.03269	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.51058	0.1652	L	0.39898	1.24	0.09310	N	1	P;D;P	0.54397	0.684;0.966;0.501	B;P;B	0.48368	0.326;0.575;0.109	T	0.48703	-0.9012	9	0.52906	T	0.07	.	4.8818	0.13683	0.4815:0.2903:0.2282:0.0	.	52;52;52	B2CML4;Q6ICH2;Q96AK3	.;.;ABC3D_HUMAN	I	52	ENSP00000370980:T52I;ENSP00000216099:T52I;ENSP00000388017:T52I	ENSP00000216099:T52I	T	+	2	0	APOBEC3D	37748910	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-3.192000	0.00564	-1.504000	0.01810	0.485000	0.47835	ACA		TCGA-IB-7651-01A-11D-2154-08	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	1	0	1	76	353	0	85	1	6.560791e-01	2	10	0	85	2		0	0	0	0	0	2	1	1	74	341	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOBEC3G	60489	broad.mit.edu	37	22	39482486	39482486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39482486G>A	ENST00000407997.3	+	6	1295	c.938G>A	c.(937-939)cGc>cAc	p.R313H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G			12	Melanoma(58;0.04)				TTCACTGCCCGCATCTATGAT	0.512000																								0							SO:0001583	missense			ENST00000407997.3	1	1	hg19	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.138435	0.37728	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66815	-0.23;-0.23	1.56	1.56	0.23342	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.68577	0.3016	M	0.88906	2.99	0.25718	N	0.985403	B	0.28584	0.216	B	0.25884	0.064	T	0.65685	-0.6108	9	0.72032	D	0.01	.	9.0538	0.36392	0.0:0.0:1.0:0.0	.	313	Q9HC16	ABC3G_HUMAN	H	313	ENSP00000413376:R313H;ENSP00000385057:R313H	ENSP00000385057:R313H	R	+	2	0	APOBEC3G	37812432	1.000000	0.71417	0.743000	0.31040	0.066000	0.16364	5.716000	0.68437	1.168000	0.42723	0.484000	0.47621	CGC		TCGA-IB-7651-01A-11D-2154-08	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	0	0	1	148	739	0	170	1	9.999973e-01	6	84	0	170	2		0	0	0	0	0	2	1	1	147	718	0	169	2								-20.000000	1	1	121412	12	44	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDGFB	5155	broad.mit.edu	37	22	39629477	39629477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39629477G>A	ENST00000331163.6	-	3	1000	c.213C>T	c.(211-213)ggC>ggT	p.G71G	PDGFB_ENST00000381551.4_Silent_p.G56G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide		COL1A1/PDGFB(429)	7	Melanoma(58;0.04)				TCTCCAGCTCGCCTCCAGAGT	0.597000			T	COL1A1	DFSP										Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	0							SO:0001819	synonymous_variant			ENST00000331163.6	1	1	hg19	CCDS13987.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	1	0	0	14	299	0	61	0	7.805095e-01	0	63	0	61	2		0	0	0	0	0	2	1	9.997318e-01	14	292	0	60	2								-3.342863	1	1	121412	6	38	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.560000	0.310000	1.000000	0.530000	0.600182	0.560000	0	4.200000e-01	7.800000e-01
SYNGR1	9145	broad.mit.edu	37	22	39770548	39770548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39770548C>T	ENST00000328933.5	+	2	342	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I|SYNGR1_ENST00000216155.7_Silent_p.I109I	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1			7	Melanoma(58;0.04)				TGTCCGACATCGGTGTCTCGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000328933.5	1	1	hg19	CCDS13989.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	1	0	1	56	270	0	72	1	9.998816e-01	7	60	0	72	2		0	0	0	0	0	2	1	1	56	267	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNGR1	9145	broad.mit.edu	37	22	39777719	39777719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39777719G>T	ENST00000328933.5	+	4	517	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1			7	Melanoma(58;0.04)				GGCTGTGCTGGCCTTCCAGCG	0.652000																								0							SO:0001583	missense			ENST00000328933.5	1	1	hg19	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733179	0.69189	.	.	ENSG00000100321	ENST00000328933	T	0.72282	-0.64	4.52	4.52	0.55395	Marvel (1);	0.159554	0.53938	D	0.000052	T	0.68137	0.2968	M	0.66378	2.025	0.80722	D	1	B	0.34200	0.441	B	0.28553	0.091	T	0.71820	-0.4477	10	0.46703	T	0.11	.	17.4528	0.87597	0.0:0.0:1.0:0.0	.	168	O43759	SNG1_HUMAN	S	168	ENSP00000332287:A168S	ENSP00000332287:A168S	A	+	1	0	SYNGR1	38107665	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.249000	0.95470	2.341000	0.79615	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	1	0	1	77	322	0	70	1	6.045304e-01	5	5	0	70	2		0	0	0	0	0	2	1	1	76	316	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAB1	10454	broad.mit.edu	37	22	39822803	39822803	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39822803C>T	ENST00000216160.6	+	9	1079	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	TAB1_ENST00000331454.3_Silent_p.S339S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1			14					GCATCCACAGCGACACCTTCG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000216160.6	1	1	hg19	CCDS13993.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	0	0	0	129	525	0	115	1	1	23	81	0	115	2		0	0	0	0	0	2	1	1	127	518	0	114	2								-20.000000	1	1	121408	6	40	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGAT3	4248	broad.mit.edu	37	22	39883623	39883623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39883623G>A	ENST00000341184.6	+	2	486	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase			24	Melanoma(58;0.04)				CAAGGCGGCCGAGGAGCTCCA	0.697000																								0							SO:0001583	missense			ENST00000341184.6	1	1	hg19	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089656	0.36855	0.0	1.17E-4	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	4.93	4.93	0.64822	.	0.209294	0.40385	N	0.001102	T	0.48943	0.1528	L	0.27053	0.805	0.38999	D	0.959309	D	0.61080	0.989	P	0.47573	0.55	T	0.56914	-0.7900	9	0.54805	T	0.06	.	18.1411	0.89639	0.0:0.0:1.0:0.0	.	91	Q09327	MGAT3_HUMAN	K	91	.	ENSP00000345270:E91K	E	+	1	0	MGAT3	38213569	1.000000	0.71417	0.790000	0.31976	0.406000	0.30931	5.095000	0.64529	2.281000	0.76405	0.467000	0.42956	GAG		TCGA-IB-7651-01A-11D-2154-08	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	0	0	0	84	345	1	54	1	7.984668e-01	15	12	1	54	4		0	0	0	0	0	2	1	1	85	337	1	51	25								-3.389011	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1I	8911	broad.mit.edu	37	22	39966944	39966944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39966944C>T	ENST00000402142.3	+	1	187	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTCTGCCTGCGACAGACCAC	0.652000																								0							SO:0001587	stop_gained			ENST00000402142.3	0	1	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	38	6.821164	0.97865	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	5.27	4.18	0.49190	.	3.044690	0.01288	N	0.009929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.6336	0.51189	0.3447:0.6553:0.0:0.0	.	.	.	.	X	63	.	ENSP00000337829:R63X	R	+	1	2	CACNA1I	38296890	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.915000	0.63355	2.633000	0.89246	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	1	91	506	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	86	500	0	107	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1I	8911	broad.mit.edu	37	22	40036947	40036947	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40036947G>A	ENST00000402142.3	+	6	816	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000336649.4_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCCCTGTCGGGCGACAATG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000402142.3	1	1	hg19	CCDS46710.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	0	16	155	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	9.999392e-01	16	152	0	36	2								-3.075688	1	1	121016	103	51	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.680000	1.000000	1.000000	0.958639	0.990000	1	8.800000e-01	1
CACNA1I	8911	broad.mit.edu	37	22	40060787	40060787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060787G>A	ENST00000402142.3	+	21	3710	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1243H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGTACCTACGCAGCAGCTGG	0.682000																								0							SO:0001583	missense			ENST00000402142.3	0	1	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381626	0.95967	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.89968	3.075	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.99066	1.0832	10	0.72032	D	0.01	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1202;1237;1202;1237	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	1237;1202;1237;1202;1243;1202	ENSP00000385019:R1237H;ENSP00000384093:R1202H;ENSP00000383887:R1237H;ENSP00000385680:R1202H;ENSP00000337829:R1243H;ENSP00000383028:R1202H	ENSP00000337829:R1243H	R	+	2	0	CACNA1I	38390733	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.541000	0.73865	1.950000	0.56595	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	0	17	130	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999737e-01	17	129	0	30	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.850000	1.000000	1.000000	0.990993	0.990000	1	9.900000e-01	1
CACNA1I	8911	broad.mit.edu	37	22	40060793	40060793	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060793G>T	ENST00000402142.3	+	21	3716	c.3716G>T	c.(3715-3717)aGc>aTc	p.S1239I	CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1245I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTACGCAGCAGCTGGAACGTG	0.677000																								0							SO:0001583	missense			ENST00000402142.3	0	1	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540607	0.85917	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	L	0.49513	1.565	0.52501	D	0.999959	D;D;D;D	0.89917	0.991;1.0;0.998;0.999	P;D;D;D	0.85130	0.883;0.997;0.962;0.997	D	0.99894	1.1142	10	0.87932	D	0	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1204;1239;1204;1239	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1239;1204;1239;1204;1245;1204	ENSP00000385019:S1239I;ENSP00000384093:S1204I;ENSP00000383887:S1239I;ENSP00000385680:S1204I;ENSP00000337829:S1245I;ENSP00000383028:S1204I	ENSP00000337829:S1245I	S	+	2	0	CACNA1I	38390739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.348000	0.73009	1.950000	0.56595	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	0	19	148	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.999918e-01	19	144	0	32	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.860000	1.000000	1.000000	0.991613	0.990000	1	9.900000e-01	1
GRAP2	9402	broad.mit.edu	37	22	40367030	40367030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367030G>A	ENST00000344138.4	+	8	1198	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2			14					TGGACCGGCCGCCTGCACAAC	0.597000																								0							SO:0001583	missense			ENST00000344138.4	1	1	hg19	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975252	0.74360	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.55052	0.54;1.31;0.54;0.54;0.54;0.54	5.27	1.78	0.24846	Src homology-3 domain (5);	0.291746	0.36815	N	0.002393	T	0.51958	0.1705	L	0.39566	1.225	0.18873	N	0.999986	P;P;P;D;P	0.65815	0.884;0.956;0.718;0.995;0.914	B;P;B;P;P	0.58577	0.403;0.636;0.281;0.841;0.515	T	0.38478	-0.9659	10	0.72032	D	0.01	-6.3986	5.0818	0.14661	0.072:0.1274:0.538:0.2626	.	199;312;246;286;312	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	H	312;260;286;246;240;199;312	ENSP00000339186:R312H;ENSP00000446350:R260H;ENSP00000444734:R246H;ENSP00000442195:R240H;ENSP00000382040:R199H;ENSP00000385607:R312H	ENSP00000339186:R312H	R	+	2	0	GRAP2	38696976	0.755000	0.28372	0.932000	0.37286	0.984000	0.73092	3.216000	0.51176	0.569000	0.29329	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	1	0	1	66	304	0	89	0	7.034371e-01	0	13	0	89	2		0	0	0	0	0	2	1	1	66	301	0	88	2								-20.000000	1	0	121412	5	37	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83F	113828	broad.mit.edu	37	22	40417900	40417900	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40417900C>T	ENST00000333407.6	+	4	1480	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	FAM83F_ENST00000473717.1_Silent_p.T294T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F			14					CTGTCTCCACCGAGACCTCTG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000333407.6	1	1	hg19	CCDS14000.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	1	0	1	55	322	0	73	1	9.265617e-01	11	17	0	73	2		0	0	0	0	0	2	1	1	55	322	0	71	2								-2.643753	1	1	121042	4	36	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TNRC6B	23112	broad.mit.edu	37	22	40661292	40661292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40661292C>T	ENST00000454349.2	+	5	1269	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.A353V|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B			1					ATGGAAAATGCGGGTGTTAAT	0.418000																								0							SO:0001583	missense			ENST00000454349.2	1	1	hg19	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.076522|2.076522	0.36662|0.36662	2.61E-4|2.61E-4	2.42E-4|2.42E-4	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.56611|.	0.45;0.45|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.118257|.	0.56097|.	D|.	0.000022|.	T|T	0.56702|0.56702	0.2003|0.2003	L|L	0.29908|0.29908	0.895|0.895	0.37338|0.37338	D|D	0.910273|0.910273	D;P;P|.	0.56968|.	0.978;0.702;0.883|.	B;B;B|.	0.40534|.	0.332;0.073;0.152|.	T|T	0.58418|0.58418	-0.7640|-0.7640	10|5	0.62326|.	D|.	0.03|.	-3.7136|-3.7136	17.4699|17.4699	0.87643|0.87643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	353;353;353|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	V|W	353|96	ENSP00000401946:A353V;ENSP00000338371:A353V|.	ENSP00000338371:A353V|.	A|R	+|+	2|1	0|2	TNRC6B|TNRC6B	38991238|38991238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.997000|1.997000	0.40786|0.40786	2.369000|2.369000	0.80426|0.80426	0.650000|0.650000	0.86243|0.86243	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	14	336	0	80	0	3.189947e-01	0	27	0	80	2		0	0	0	0	0	2	1	9.997381e-01	14	330	0	80	2								-3.012238	1	1	120866	6	39	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.500000	0.280000	1.000000	0.470000	0.548121	0.500000	0	3.700000e-01	7.000000e-01
ADSL	158	broad.mit.edu	37	22	40749110	40749110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40749110C>T	ENST00000216194.7	+	3	447	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ADSL_ENST00000454266.2_Intron|ADSL_ENST00000342312.6_Missense_Mutation_p.L131F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase			19					ACTTGACCTGCTTTTGCCAAA	0.363000													Colon(4;65 130 1097 1516)											0							SO:0001583	missense			ENST00000216194.7	1	1	hg19	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762268	0.89932	.	.	ENSG00000239900	ENST00000216194;ENST00000342312	D;D	0.99784	-6.74;-6.74	5.6	5.6	0.85130	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.76575	0.979;0.988;0.988	D	0.96915	0.9670	10	0.87932	D	0	.	17.4818	0.87674	0.0:1.0:0.0:0.0	.	131;131;131	P30566-2;Q71UA4;P30566	.;.;PUR8_HUMAN	F	131	ENSP00000216194:L131F;ENSP00000341429:L131F	ENSP00000216194:L131F	L	+	1	0	ADSL	39079056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.445000	0.66594	2.818000	0.97014	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	1	0	1	49	176	0	74	1	1	46	113	0	74	2		0	0	0	0	0	2	1	1	46	174	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADSL	158	broad.mit.edu	37	22	40754974	40754974	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40754974G>A	ENST00000216194.7	+	5	645	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ADSL_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000342312.6_Missense_Mutation_p.G197R|ADSL_ENST00000480775.1_3'UTR	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase			19					GCGCTTCCGGGGAGTAAAGGG	0.512000													Colon(4;65 130 1097 1516)											0							SO:0001583	missense			ENST00000216194.7	0	1	hg19	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320746	0.95682	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.99304	-3.66;-3.66;-5.72	6.05	6.05	0.98169	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98178	4.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97465	1.0037	10	0.87932	D	0	-22.601	20.6087	0.99469	0.0:0.0:1.0:0.0	.	211;197;197;197	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	R	197;211;17;197	ENSP00000216194:G197R;ENSP00000390107:G211R;ENSP00000341429:G197R	ENSP00000216194:G197R	G	+	1	0	ADSL	39084920	1.000000	0.71417	0.772000	0.31596	0.992000	0.81027	8.972000	0.93424	2.866000	0.98385	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	0	0	0	7	317	0	66	0	8.811502e-01	1	174	0	66	2		0	0	0	0	0	2	1	9.806886e-01	7	316	0	64	2								-7.210910	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.280000	0.120000	1.000000	0.250000	0.356381	0.280000	0	1.800000e-01	4.500000e-01
MKL1	57591	broad.mit.edu	37	22	40814828	40814828	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40814828C>T	ENST00000355630.3	-	12	2204	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000396617.3_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1			30					GGAGCATGCGCGTCAGCGCCT	0.706000			T	RBM15	acute megakaryocytic leukemia										Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0							SO:0001819	synonymous_variant			ENST00000355630.3	1	1	hg19	CCDS14003.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	1	0	0	42	178	0	21	1	9.874945e-01	5	27	0	21	2		0	0	0	0	0	2	1	1	42	176	0	21	2								-20.000000	1	1	121036	7	39	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKL1	57591	broad.mit.edu	37	22	40817021	40817021	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40817021C>T	ENST00000355630.3	-	10	1301	c.711G>A	c.(709-711)aaG>aaA	p.K237K	MKL1_ENST00000407029.1_Silent_p.K237K|MKL1_ENST00000396617.3_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1			30					ACTGGTGGTACTTGAGCTTCT	0.592000			T	RBM15	acute megakaryocytic leukemia										Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0							SO:0001819	synonymous_variant			ENST00000355630.3	1	1	hg19	CCDS14003.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	1	0	1	71	316	0	84	1	1	25	128	0	84	2		0	0	0	0	0	2	1	1	69	307	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A17	10478	broad.mit.edu	37	22	41166939	41166939	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41166939G>T	ENST00000435456.2	-	9	956	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000402844.3_Missense_Mutation_p.L193M	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17			8					ACTGTCTGCAGCAGTTTGGCT	0.468000																								0							SO:0001583	missense			ENST00000435456.2	1	1	hg19	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225570	0.79576	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.38	4.37	0.52481	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.97	D;D;D	0.74023	0.982;0.926;0.953	D	0.87229	0.2259	10	0.44086	T	0.13	-8.0327	10.5191	0.44907	0.1481:0.0:0.8519:0.0	.	202;238;275	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	M	275;193;238;202	ENSP00000390722:L275M;ENSP00000385303:L193M;ENSP00000438355:L238M;ENSP00000446471:L202M	ENSP00000385303:L193M	L	-	1	2	SLC25A17	39496885	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.771000	0.74996	1.421000	0.47157	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	1	0	1	183	918	0	288	1	1	41	79	0	288	2		0	0	0	0	0	2	1	1	181	894	0	287	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST13	6767	broad.mit.edu	37	22	41252472	41252472	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41252472T>C	ENST00000216218.3	-	1	554	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	XPNPEP3_ENST00000357137.4_5'Flank|XPNPEP3_ENST00000541156.1_5'Flank|XPNPEP3_ENST00000414396.1_5'Flank	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)			6					ATTTCCTCGGTGTGCAGAACG	0.642000																								0							SO:0001583	missense			ENST00000216218.3	1	1	hg19	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529592	0.44969	.	.	ENSG00000100380	ENST00000216218;ENST00000542699;ENST00000401032	T	0.16597	2.33	5.52	4.49	0.54785	.	0.387108	0.32578	N	0.005907	T	0.13970	0.0338	L	0.55743	1.74	0.29955	N	0.819911	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.0	T	0.28586	-1.0039	10	0.08381	T	0.77	.	7.7736	0.29023	0.0:0.162:0.0:0.838	.	25;25	B4E0U6;P50502	.;F10A1_HUMAN	A	25	ENSP00000216218:T25A	ENSP00000216218:T25A	T	-	1	0	ST13	39582418	0.974000	0.33945	1.000000	0.80357	0.985000	0.73830	0.256000	0.18351	1.115000	0.41800	0.460000	0.39030	ACC		TCGA-IB-7651-01A-11D-2154-08	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	0	0	1	92	500	0	97	1	1	190	639	0	97	2		0	0	0	0	0	2	1	1	91	491	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJB7	150353	broad.mit.edu	37	22	41257476	41257476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41257476C>T	ENST00000307221.4	-	1	654	c.523G>A	c.(523-525)Gct>Act	p.A175T	XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7			10					TTATCAAAAGCCAGGGAAGAG	0.338000																								0							SO:0001583	missense			ENST00000307221.4	1	1	hg19	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858335	0.17178	.	.	ENSG00000172404	ENST00000307221	T	0.45668	0.89	4.7	-4.54	0.03452	.	1.106060	0.07028	N	0.827902	T	0.27765	0.0683	L	0.50333	1.59	0.23776	N	0.996874	B	0.33777	0.425	B	0.30572	0.117	T	0.20907	-1.0261	10	0.21540	T	0.41	.	3.4648	0.07545	0.5679:0.1768:0.1058:0.1495	.	175	Q7Z6W7	DNJB7_HUMAN	T	175	ENSP00000307197:A175T	ENSP00000307197:A175T	A	-	1	0	DNAJB7	39587422	0.844000	0.29557	0.002000	0.10522	0.129000	0.20672	1.122000	0.31295	-0.659000	0.05359	-0.282000	0.10007	GCT		TCGA-IB-7651-01A-11D-2154-08	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	1	0	1	113	483	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	112	474	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPNPEP3	63929	broad.mit.edu	37	22	41282489	41282489	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282489A>C	ENST00000357137.4	+	4	846	c.762A>C	c.(760-762)cgA>cgC	p.R254R	XPNPEP3_ENST00000544094.1_Silent_p.R231R|XPNPEP3_ENST00000541156.1_Silent_p.R254R|XPNPEP3_ENST00000414396.1_Silent_p.R254R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative			17					AAATTGAACGAATGCAGATTG	0.522000													Ovarian(145;306 1841 7037 21878 30110)											0							SO:0001819	synonymous_variant			ENST00000357137.4	1	1	hg19	CCDS14007.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	1	0	1	76	337	0	93	1	9.391284e-01	13	10	0	93	2		0	0	0	0	0	2	1	1	75	328	0	93	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPNPEP3	63929	broad.mit.edu	37	22	41282496	41282496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282496A>G	ENST00000357137.4	+	4	853	c.769A>G	c.(769-771)Att>Gtt	p.I257V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative			17					ACGAATGCAGATTGCTGGGAA	0.527000													Ovarian(145;306 1841 7037 21878 30110)											0							SO:0001583	missense			ENST00000357137.4	1	1	hg19	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002692	0.35320	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T	0.76186	-1.0;-1.0	5.74	0.825	0.18824	Peptidase M24, structural domain (3);	0.518896	0.22027	N	0.065658	T	0.52613	0.1745	N	0.16233	0.39	0.26831	N	0.968589	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.004	T	0.37478	-0.9704	10	0.36615	T	0.2	.	6.5065	0.22198	0.6254:0.1244:0.2502:0.0	.	257;257	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	V	257;257;257;234	ENSP00000349658:I257V;ENSP00000441942:I234V	ENSP00000349658:I257V	I	+	1	0	XPNPEP3	39612442	0.889000	0.30405	0.998000	0.56505	0.997000	0.91878	1.347000	0.33975	0.103000	0.17682	0.455000	0.32223	ATT		TCGA-IB-7651-01A-11D-2154-08	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	1	0	1	82	299	0	89	1	9.753258e-01	4	20	0	89	2		0	0	0	0	0	2	1	1	80	291	0	89	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP300	2033	broad.mit.edu	37	22	41513320	41513320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41513320C>T	ENST00000263253.7	+	2	1443	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300			171					CAAGATGCAGCTTCTAAACAT	0.458000			T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome						Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		L, E	0							SO:0001583	missense	Familial Cancer Database	Broad Thumb-Hallux syndrome	ENST00000263253.7	1	1	hg19	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957203	0.92726	.	.	ENSG00000100393	ENST00000263253	D	0.84370	-1.84	5.98	5.98	0.97165	.	0.000000	0.48286	D	0.000193	D	0.89462	0.6722	L	0.55213	1.73	0.58432	D	0.999998	P	0.51147	0.942	P	0.57244	0.816	D	0.86223	0.1632	10	0.30078	T	0.28	-7.1964	20.4581	0.99154	0.0:1.0:0.0:0.0	.	75	Q09472	EP300_HUMAN	V	75	ENSP00000263253:A75V	ENSP00000263253:A75V	A	+	2	0	EP300	39843266	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.074000	0.50065	2.835000	0.97688	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	0	0	1	109	342	0	78	1	9.999758e-01	10	41	0	78	2		0	0	0	0	0	2	1	1	108	339	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP300	2033	broad.mit.edu	37	22	41572357	41572357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41572357C>T	ENST00000263253.7	+	30	6105	c.4886C>T	c.(4885-4887)gCg>gTg	p.A1629V	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	p.A1629V(2)		171					GGTCGGGATGCGTTTCTCACG	0.582000			T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome						Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		L, E	2	Substitution - Missense(2)						SO:0001583	missense	Familial Cancer Database	Broad Thumb-Hallux syndrome	ENST00000263253.7	1	1	hg19	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602581	0.66445	.	.	ENSG00000100393	ENST00000263253	D	0.86366	-2.11	5.03	5.03	0.67393	.	0.000000	0.48286	D	0.000193	D	0.94801	0.8321	M	0.90252	3.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.95684	0.8734	10	0.87932	D	0	-8.2919	18.7274	0.91718	0.0:1.0:0.0:0.0	.	1629	Q09472	EP300_HUMAN	V	1629	ENSP00000263253:A1629V	ENSP00000263253:A1629V	A	+	2	0	EP300	39902303	1.000000	0.71417	0.990000	0.47175	0.701000	0.40568	7.818000	0.86416	2.500000	0.84329	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	1	0	1	112	447	0	110	1	1	70	113	0	110	2		0	0	0	0	0	2	1	1	110	436	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EP300	2033	broad.mit.edu	37	22	41574502	41574502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41574502C>T	ENST00000263253.7	+	31	8006	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300			171					CTATCAGCAGCGACTCCTTCA	0.577000			T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome						Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		L, E	0							SO:0001587	stop_gained	Familial Cancer Database	Broad Thumb-Hallux syndrome	ENST00000263253.7	0	1	hg19	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	52	19.910876	0.99925	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	2.03	0.26663	.	0.000000	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-7.9992	10.9807	0.47492	0.3487:0.5422:0.1091:0.0	.	.	.	.	X	2263	.	ENSP00000263253:R2263X	R	+	1	2	EP300	39904448	0.685000	0.27652	0.997000	0.53966	0.955000	0.61496	0.242000	0.18087	0.671000	0.31185	-0.941000	0.02677	CGA		TCGA-IB-7651-01A-11D-2154-08	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	1	0	0	26	388	0	95	1	9.997594e-01	28	165	0	95	2		0	0	0	0	0	2	1	9.999999e-01	26	379	0	94	2								-7.059047	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.760000	0.500000	1.000000	1.000000	0.782015	0.760000	0	6.200000e-01	9.800000e-01
L3MBTL2	83746	broad.mit.edu	37	22	41620065	41620065	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41620065G>A	ENST00000216237.5	+	9	1142	c.984G>A	c.(982-984)cgG>cgA	p.R328R		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)			24					AGGGCATGCGGCTGGAAGTGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000216237.5	0	1	hg19	CCDS14011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	0	0	0	7	350	1	77	0	1.783149e-02	4	76	1	77	6		0	0	0	0	0	2	0	3.905602e-02	7	343	1	76	16								-6.902569	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.250000	0.100000	1.000000	0.230000	0.332819	0.250000	0	1.700000e-01	4.100000e-01
L3MBTL2	83746	broad.mit.edu	37	22	41621043	41621043	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41621043C>A	ENST00000216237.5	+	11	1482	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)			24					CCCCCTGAATCTGGGCAACAT	0.587000																								0							SO:0001583	missense			ENST00000216237.5	1	1	hg19	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222340	0.79464	.	.	ENSG00000100395	ENST00000216237	T	0.32023	1.47	5.52	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.89095	3.005	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.55823	-0.8080	10	0.34782	T	0.22	.	10.1344	0.42697	0.0:0.7279:0.0:0.2721	.	442;442	Q969R5-3;Q969R5	.;LMBL2_HUMAN	M	442	ENSP00000216237:L442M	ENSP00000216237:L442M	L	+	1	2	L3MBTL2	39950989	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.353000	0.34045	0.312000	0.23038	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	1	0	1	81	376	0	103	1	9.999999e-01	28	84	0	103	2		0	0	0	0	0	2	1	1	80	374	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANGAP1	5905	broad.mit.edu	37	22	41645753	41645753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41645753C>T	ENST00000455915.2	-	13	3021	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1			19					CCCATGTGCACGAGCAGCCTG	0.627000																								0							SO:0001583	missense			ENST00000455915.2	1	1	hg19	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673521	0.47781	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.56611	0.45;0.45;0.45;0.85	5.8	-0.104	0.13605	Ran-GTPase activating protein 1, C-terminal (3);	0.458253	0.25241	N	0.032087	T	0.63189	0.2490	M	0.62723	1.935	0.21147	N	0.999778	D;D	0.76494	0.999;0.995	P;D	0.63488	0.839;0.915	T	0.58912	-0.7552	10	0.87932	D	0	-8.7803	11.557	0.50755	0.0:0.4446:0.0:0.5554	.	463;518	F8W7I9;P46060	.;RAGP1_HUMAN	M	518;518;518;518;463	ENSP00000385866:V518M;ENSP00000348577:V518M;ENSP00000401470:V518M;ENSP00000385354:V463M	ENSP00000348577:V518M	V	-	1	0	RANGAP1	39975699	0.978000	0.34361	0.729000	0.30791	0.083000	0.17756	0.350000	0.20079	-0.048000	0.13401	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	1	0	1	49	226	0	93	1	1	77	197	0	93	2		0	0	0	0	0	2	1	1	48	224	0	92	2								-3.316951	1	1	121412	2	33	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650402C>A	ENST00000455915.2	-	10	2639	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	RANGAP1_ENST00000405486.1_Missense_Mutation_p.E390D|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E390D|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E335D			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	p.E390E(1)		19					cctcctcctcctcttcttcct	0.562000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000455915.2	1	0	hg19	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147037	0.21288	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	4.39	-6.97	0.01616	Armadillo-like helical (1);	0.774989	0.12248	N	0.485859	D	0.87321	0.6148	L	0.56769	1.78	0.43480	D	0.995701	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.002	T	0.63042	-0.6725	10	0.22706	T	0.39	-3.7269	7.3865	0.26884	0.0:0.4191:0.1138:0.4671	.	335;390	F8W7I9;P46060	.;RAGP1_HUMAN	D	390;390;390;390;335	ENSP00000385866:E390D;ENSP00000348577:E390D;ENSP00000401470:E390D;ENSP00000385354:E335D	ENSP00000348577:E390D	E	-	3	2	RANGAP1	39980348	0.000000	0.05858	0.489000	0.27452	0.024000	0.10985	-5.147000	0.00147	-1.197000	0.02673	-1.327000	0.01280	GAG		TCGA-IB-7651-01A-11D-2154-08	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	1	0	1	43	255	0	53	1	1	57	120	0	53	2		0	0	0	0	0	2	1	1	41	247	0	52	2								-1.946389	0	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
RANGAP1	5905	broad.mit.edu	37	22	41650462	41650462	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650462T>C	ENST00000455915.2	-	10	2579	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	RANGAP1_ENST00000405486.1_Silent_p.E370E|RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000407260.4_Silent_p.E315E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1			19					cttcttcctcttctccttcct	0.567000																								0							SO:0001819	synonymous_variant			ENST00000455915.2	1	0	hg19	CCDS14012.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	1	0	1	106	459	0	115	1	1	43	149	0	115	2		0	0	0	0	0	2	1	1	101	440	0	114	2								-3.439335	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H7B	23264	broad.mit.edu	37	22	41723231	41723231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41723231G>T	ENST00000352645.4	+	5	564	c.307G>T	c.(307-309)Gag>Tag	p.E103*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B			38					GAAGGCGCTGGAGGACAGCGA	0.627000																								0							SO:0001587	stop_gained			ENST00000352645.4	0	1	hg19	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.157690	0.97334	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.27	5.27	0.74061	.	0.052170	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-34.2907	18.8953	0.92421	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000263243:E103X	E	+	1	0	ZC3H7B	40053177	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.577000	0.53885	2.457000	0.83068	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	1	0	0	93	439	0	98	1	9.999932e-01	13	69	0	98	2		0	0	0	0	0	2	1	1	91	433	0	97	2								-3.353258	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H7B	23264	broad.mit.edu	37	22	41742154	41742154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41742154G>T	ENST00000352645.4	+	14	1864	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B			38					AAGCGCGGCAGCCTCACCATC	0.647000																								0							SO:0001583	missense			ENST00000352645.4	1	1	hg19	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156390	0.57259	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.22539	1.95;1.95	5.36	4.28	0.50868	.	0.141156	0.64402	D	0.000007	T	0.20088	0.0483	L	0.46157	1.445	0.35808	D	0.823633	B	0.32731	0.382	B	0.35813	0.211	T	0.18461	-1.0336	10	0.56958	D	0.05	-32.0039	9.3375	0.38060	0.0788:0.145:0.7762:0.0	.	536	Q9UGR2-2	.	I	536	ENSP00000345793:S536I;ENSP00000263243:S536I	ENSP00000263243:S536I	S	+	2	0	ZC3H7B	40072100	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.625000	0.46452	2.523000	0.85059	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	1	0	1	91	459	0	97	1	9.999994e-01	3	101	0	97	2		0	0	0	0	0	2	1	1	91	451	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H7B	23264	broad.mit.edu	37	22	41747608	41747608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41747608G>A	ENST00000352645.4	+	17	2249	c.1992G>A	c.(1990-1992)tgG>tgA	p.W664*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B			38					AGAAGTACTGGCAGCAGATGG	0.532000																								0							SO:0001587	stop_gained			ENST00000352645.4	0	1	hg19	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	41	8.652374	0.98901	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.49	5.49	0.81192	.	0.112513	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8488	19.4218	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	664	.	ENSP00000263243:W664X	W	+	3	0	ZC3H7B	40077554	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.413000	0.97351	2.593000	0.87608	0.456000	0.33151	TGG		TCGA-IB-7651-01A-11D-2154-08	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	1	0	1	22	118	0	22	1	9.999972e-01	3	120	0	22	2		0	0	0	0	0	2	1	9.999993e-01	22	117	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999812	0.990000	1	9.900000e-01	1
ZC3H7B	23264	broad.mit.edu	37	22	41753416	41753416	+	Missense_Mutation	SNP	G	G	A	rs140753362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41753416G>A	ENST00000352645.4	+	23	3174	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B			38					TGCTGCCACCGCCACCACTGG	0.662000																								0							SO:0001583	missense			ENST00000352645.4	1	1	hg19	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905514	0.17760	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12039	2.72;2.72	4.48	-8.95	0.00765	.	1.536640	0.03786	N	0.262041	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28202	-1.0051	9	0.15499	T	0.54	-0.9031	6.3307	0.21269	0.5147:0.0:0.2934:0.1919	.	973	Q9UGR2-2	.	T	973	ENSP00000345793:A973T;ENSP00000263243:A973T	ENSP00000263243:A973T	A	+	1	0	ZC3H7B	40083362	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.164000	0.09983	-2.096000	0.00852	-1.842000	0.00583	GCC		TCGA-IB-7651-01A-11D-2154-08	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	1	0	0	145	614	0	90	1	1	3	105	0	90	2		0	0	0	0	0	2	1	1	141	606	0	88	2								-20.000000	1	1	121272	2	39	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEF	7008	broad.mit.edu	37	22	41790200	41790200	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41790200C>T	ENST00000266304.4	+	3	692	c.576C>T	c.(574-576)ctC>ctT	p.L192L	TEF_ENST00000406644.3_Silent_p.L162L	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor			6					ACCTGGTGCTCTCCAGTGTGC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000266304.4	1	1	hg19	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325398	0.24080	.	.	ENSG00000167074	ENST00000413942	.	.	.	5.78	0.71	0.18157	.	.	.	.	.	T	0.65893	0.2735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-30.8495	13.1516	0.59492	0.0988:0.4108:0.4905:0.0	.	.	.	.	F	158	.	.	S	+	2	0	TEF	40120146	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.219000	0.17641	0.374000	0.24650	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	1	0	1	86	496	0	110	1	9.998859e-01	16	61	0	110	2		0	0	0	0	0	2	1	1	83	484	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XRCC6	2547	broad.mit.edu	37	22	42033677	42033677	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42033677G>T	ENST00000359308.4	+	5	1310	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6			31					GTTCTACAGAGATATCATCAG	0.488000								Non-homologous end-joining																0							SO:0001583	missense			ENST00000359308.4	0	1	hg19	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842693	0.91197	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.74	5.74	0.90152	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.983;1.0;0.988	D	0.86954	0.2087	9	0.87932	D	0	-24.6149	19.9357	0.97140	0.0:0.0:1.0:0.0	.	169;219;178;219	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	Y	219;178;86;219;219;219;169	.	ENSP00000352257:D219Y	D	+	1	0	XRCC6	40363623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.209000	0.95087	2.715000	0.92844	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	1	0	1	15	99	0	22	1	1	184	609	0	22	2		0	0	0	0	0	2	1	9.999104e-01	15	99	0	22	2								-19.999940	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.930000	1.000000	1.000000	0.995686	0.990000	1	9.900000e-01	1
MEI1	150365	broad.mit.edu	37	22	42128307	42128307	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128307G>A	ENST00000401548.3	+	10	1195	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	MEI1_ENST00000540833.1_Silent_p.L125L|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1			30					ACATAGAGCTGCACAAGCAGG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000401548.3	1	1	hg19	CCDS46718.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	1	0	1	27	66	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	1	27	66	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEI1	150365	broad.mit.edu	37	22	42128519	42128519	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128519G>T	ENST00000401548.3	+	11	1283	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1			30					CATGTGCAGAGATGCTGGCCG	0.552000																								0							SO:0001583	missense			ENST00000401548.3	1	1	hg19	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460093	0.63401	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.47528	1.83;0.84	5.74	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.576504	0.18549	N	0.137954	T	0.56645	0.1999	L	0.56769	1.78	0.80722	D	1	P;D	0.60575	0.955;0.988	P;P	0.58873	0.66;0.847	T	0.58317	-0.7657	10	0.66056	D	0.02	-6.4029	7.1383	0.25541	0.1467:0.0:0.7135:0.1399	.	415;415	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	Y	415;155	ENSP00000384115:D415Y;ENSP00000444225:D155Y	ENSP00000384115:D415Y	D	+	1	0	MEI1	40458465	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	2.702000	0.47102	1.410000	0.46936	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	1	0	1	42	216	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	40	214	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MEI1	150365	broad.mit.edu	37	22	42154490	42154490	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42154490G>A	ENST00000401548.3	+	18	2113	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	MEI1_ENST00000540880.1_Silent_p.Q9Q|MEI1_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Silent_p.Q59Q	NM_152513.3	NP_689726.3			meiosis inhibitor 1			30					GCCAGAGACAGTACTGCATCC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000401548.3	1	1	hg19	CCDS46718.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	1	0	1	21	119	0	29	0	8.368203e-01	0	21	0	29	2		0	0	0	0	0	2	1	9.999980e-01	21	115	0	29	2								-20.000000	1	1	120992	2	30	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999600	0.990000	1	9.900000e-01	1
CCDC134	79879	broad.mit.edu	37	22	42209411	42209411	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42209411G>A	ENST00000255784.5	+	5	558	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134			6					CCAGACAGGCGTCTTCAACCA	0.597000																								0							SO:0001583	missense			ENST00000255784.5	1	1	hg19	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385119	0.25031	0.0	1.16E-4	ENSG00000100147	ENST00000255784	.	.	.	5.51	3.42	0.39159	.	0.184989	0.47852	N	0.000220	T	0.42494	0.1205	L	0.33485	1.01	0.44000	D	0.996703	B	0.21821	0.061	B	0.14578	0.011	T	0.33059	-0.9883	9	0.36615	T	0.2	-26.7955	9.1116	0.36732	0.2197:0.0:0.7803:0.0	.	152	Q9H6E4	CC134_HUMAN	I	152	.	ENSP00000255784:V152I	V	+	1	0	CCDC134	40539357	1.000000	0.71417	0.914000	0.36105	0.070000	0.16714	3.181000	0.50903	1.466000	0.48025	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	1	0	1	57	249	0	58	1	9.884789e-01	7	26	0	58	2		0	0	0	0	0	2	1	1	56	245	0	57	2								-20.000000	1	1	121412	13	41	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SREBF2	6721	broad.mit.edu	37	22	42266957	42266957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42266957G>A	ENST00000361204.4	+	4	951	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2			38					AAGACAGATGGCAGCCCTGTT	0.537000																								0							SO:0001583	missense			ENST00000361204.4	1	1	hg19	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765744	0.90020	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55760	0.5	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57154	-0.7860	10	0.17369	T	0.5	-32.2682	19.365	0.94458	0.0:0.0:1.0:0.0	.	262	Q12772	SRBP2_HUMAN	D	262	ENSP00000354476:G262D	ENSP00000354476:G262D	G	+	2	0	SREBF2	40596903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.525000	0.73795	2.577000	0.86979	0.455000	0.32223	GGC		TCGA-IB-7651-01A-11D-2154-08	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	1	0	1	177	725	0	204	1	1	101	218	0	204	2		0	0	0	0	0	2	1	1	169	702	0	200	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFRSF13C	115650	broad.mit.edu	37	22	42321490	42321490	+	Missense_Mutation	SNP	G	G	T	rs151243201	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42321490G>T	ENST00000291232.3	-	3	480	c.436C>A	c.(436-438)Cct>Act	p.P146T	MIR378I_ENST00000582688.1_RNA|CTA-250D10.23_ENST00000566575.1_lincRNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C			3					CCAGGAGGAGGCCAGGCAGGA	0.637000																								0							SO:0001583	missense			ENST00000291232.3	1	1	hg19	CCDS14024.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766959	0.69878	.	.	ENSG00000159958	ENST00000291232	T	0.36520	1.25	4.93	3.77	0.43336	.	0.259797	0.26944	N	0.021715	T	0.25606	0.0623	L	0.29908	0.895	0.34237	D	0.677158	P;P	0.40875	0.731;0.731	B;B	0.38428	0.273;0.273	T	0.40459	-0.9562	10	0.51188	T	0.08	0.6656	9.7503	0.40473	0.1094:0.0:0.8906:0.0	.	146;146	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	T	146	ENSP00000291232:P146T	ENSP00000291232:P146T	P	-	1	0	TNFRSF13C	40651436	0.922000	0.31269	0.822000	0.32727	0.704000	0.40688	1.135000	0.31454	1.214000	0.43395	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1	1	0	0	26	338	0	84	0	1.653192e-01	0	10	0	84	2		0	0	0	0	0	2	1	9.999999e-01	26	334	0	83	2								-7.993105	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.870000	0.570000	1.000000	1.000000	0.860696	0.870000	1	7.100000e-01	1
WBP2NL	164684	broad.mit.edu	37	22	42416055	42416055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42416055G>T	ENST00000328823.9	+	4	392	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like			14					CAGAAATGGAGATGCCATTGA	0.428000																								0							SO:0001583	missense			ENST00000328823.9	1	1	hg19	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009860	0.54361	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.30448	1.53;1.53	5.23	5.23	0.72850	WW-domain-binding protein (1);	0.000000	0.46442	D	0.000295	T	0.20170	0.0485	N	0.08118	0	0.27072	N	0.963301	B	0.16603	0.018	B	0.13407	0.009	T	0.24621	-1.0155	10	0.87932	D	0	-5.2897	17.7276	0.88369	0.0:0.0:1.0:0.0	.	121	Q6ICG8	WBP2L_HUMAN	Y	121;47	ENSP00000332983:D121Y;ENSP00000442447:D47Y	ENSP00000332983:D121Y	D	+	1	0	WBP2NL	40746001	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	7.021000	0.76425	2.719000	0.93026	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	1	0	1	130	586	0	124	0	0	0	1	0	124	2		0	0	0	0	0	2	1	1	125	563	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WBP2NL	164684	broad.mit.edu	37	22	42422788	42422788	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42422788C>A	ENST00000328823.9	+	6	564	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P104Q	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like			14					TATGGAGCCCCACCTGCAGGA	0.468000																								0							SO:0001583	missense			ENST00000328823.9	0	1	hg19	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304715	0.40795	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	D;D	0.84370	-1.84;-1.84	4.19	1.97	0.26223	WW-domain-binding protein (1);	.	.	.	.	T	0.81688	0.4875	L	0.59912	1.85	0.26110	N	0.980693	B	0.31910	0.346	B	0.34652	0.187	T	0.70117	-0.4960	9	0.39692	T	0.17	.	9.2072	0.37296	0.4419:0.5581:0.0:0.0	.	178	Q6ICG8	WBP2L_HUMAN	Q	178;104	ENSP00000332983:P178Q;ENSP00000442447:P104Q	ENSP00000332983:P178Q	P	+	2	0	WBP2NL	40752734	0.000000	0.05858	0.015000	0.15790	0.004000	0.04260	-0.055000	0.11807	0.448000	0.26722	-0.291000	0.09656	CCA		TCGA-IB-7651-01A-11D-2154-08	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	0	0	0	16	905	0	190	0	1.061649e-03	0	3	0	190	2		0	0	0	0	0	2	1	9.999123e-01	16	877	0	188	2								-2.333824	0	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.210000	0.120000	1.000000	0.210000	0.293403	0.210000	0	1.600000e-01	3.000000e-01
NDUFA6	4700	broad.mit.edu	37	22	42482233	42482233	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42482233C>A	ENST00000498737.2	-	3	551	c.419G>T	c.(418-420)aGg>aTg	p.R140M	NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M|NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa			5					ATCCTTTGGCCTTGGCGCTTC	0.428000																								0							SO:0001583	missense			ENST00000498737.2	1	1	hg19	CCDS33656.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743576	0.89663	.	.	ENSG00000184983	ENST00000498737	T	0.66280	-0.2	6.17	4.09	0.47781	.	0.085950	0.85682	D	0.000000	T	0.74884	0.3775	M	0.87038	2.855	0.80722	D	1	D	0.54047	0.964	P	0.52856	0.711	T	0.78650	-0.2121	10	0.56958	D	0.05	-24.6463	12.8598	0.57908	0.0:0.8674:0.0:0.1326	.	140	P56556	NDUA6_HUMAN	M	140	ENSP00000418842:R140M	ENSP00000418842:R140M	R	-	2	0	NDUFA6	40812179	1.000000	0.71417	0.949000	0.38748	0.959000	0.62525	3.215000	0.51169	0.938000	0.37419	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	1	0	1	123	506	0	102	1	1	234	504	0	102	2		0	0	0	0	0	2	1	1	122	497	0	100	2								-3.544510	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2D6	1565	broad.mit.edu	37	22	42525823	42525823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42525823G>A	ENST00000360608.5	-	2	383	c.269C>T	c.(268-270)gCg>gTg	p.A90V	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6			21				Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GGTCACCAGCGCCTCGCGCAC	0.716000																								0							SO:0001583	missense			ENST00000360608.5	1	1	hg19	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	g	15.35	2.808652	0.50421	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.61510	0.1;0.1;0.1	3.46	2.44	0.29823	.	0.000000	0.64402	D	0.000001	T	0.50411	0.1614	L	0.43554	1.36	0.58432	D	0.999999	P;P	0.49447	0.734;0.924	P;B	0.47626	0.552;0.313	T	0.40117	-0.9580	10	0.19147	T	0.46	.	10.2971	0.43631	0.1036:0.0:0.8964:0.0	.	90;90	Q6NXU8;Q6NWU0	.;.	V	90;90;39;90;90	ENSP00000353820:A90V;ENSP00000374620:A90V;ENSP00000351927:A90V	ENSP00000351927:A90V	A	-	2	0	CYP2D6	40855767	1.000000	0.71417	0.987000	0.45799	0.254000	0.26022	4.625000	0.61262	1.022000	0.39626	0.484000	0.47621	GCG		TCGA-IB-7651-01A-11D-2154-08	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1	1	0	0	36	193	0	21	0	0	1	0	0	21	2		0	0	0	0	0	2	1	1	36	192	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
TCF20	6942	broad.mit.edu	37	22	42605786	42605786	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42605786G>T	ENST00000359486.3	-	1	5662	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	TCF20_ENST00000404876.1_Silent_p.I143I|TCF20_ENST00000335626.4_Silent_p.I1842I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)			66					GTAGTTCAGGGATTTGTAACT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000359486.3	1	1	hg19	CCDS14033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	0	0	0	34	858	0	231	1	9.081187e-01	8	97	0	231	2		0	0	0	0	0	2	1	1	34	847	0	226	2								-3.902281	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.460000	0.320000	1.000000	0.450000	0.514800	0.460000	0	3.800000e-01	5.800000e-01
TCF20	6942	broad.mit.edu	37	22	42607439	42607439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42607439G>A	ENST00000359486.3	-	1	4009	c.3873C>T	c.(3871-3873)ggC>ggT	p.G1291G	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.G1291G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)			66					CTTTATCAGCGCCTTCTTTTG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000359486.3	1	1	hg19	CCDS14033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1	148	599	0	127	1	1	26	70	0	127	2		0	0	0	0	0	2	1	1	139	593	0	125	2								-20.000000	1	1	121412	2	40	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF20	6942	broad.mit.edu	37	22	42609324	42609324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609324C>T	ENST00000359486.3	-	1	2124	c.1988G>A	c.(1987-1989)aGc>aAc	p.S663N	TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)			66					GTTTCCTTTGCTCCCTCCTCC	0.542000																								0							SO:0001583	missense			ENST00000359486.3	1	1	hg19	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	7.809	0.715375	0.15306	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59502	0.26;0.26	5.65	0.00184	0.14048	.	.	.	.	.	T	0.35566	0.0936	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.07888	-1.0749	9	0.36615	T	0.2	-0.3196	9.0709	0.36491	0.0:0.6288:0.0:0.3712	.	663;663	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	663	ENSP00000352463:S663N;ENSP00000335561:S663N	ENSP00000335561:S663N	S	-	2	0	TCF20	40939268	0.190000	0.23276	0.939000	0.37840	0.976000	0.68499	0.230000	0.17852	0.193000	0.20303	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1	81	376	0	80	1	9.999885e-01	27	51	0	80	2		0	0	0	0	0	2	1	1	80	363	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF20	6942	broad.mit.edu	37	22	42609754	42609754	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609754C>A	ENST00000359486.3	-	1	1694	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)			66					CAGCCTCCATCTAATGACTCT	0.537000																								0							SO:0001583	missense			ENST00000359486.3	1	1	hg19	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573944	0.45902	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35236	1.32;1.32	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.50825	-0.8782	10	0.87932	D	0	-22.0814	20.8794	0.99867	0.0:1.0:0.0:0.0	.	520;520	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	520	ENSP00000352463:D520Y;ENSP00000335561:D520Y	ENSP00000335561:D520Y	D	-	1	0	TCF20	40939698	1.000000	0.71417	0.957000	0.39632	0.560000	0.35617	2.209000	0.42806	2.941000	0.99782	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1	261	1075	0	278	1	9.997539e-01	10	41	0	278	2		0	0	0	0	0	2	1	1	255	1058	0	276	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF20	6942	broad.mit.edu	37	22	42609955	42609955	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609955A>G	ENST00000359486.3	-	1	1493	c.1357T>C	c.(1357-1359)Ttg>Ctg	p.L453L	TCF20_ENST00000335626.4_Silent_p.L453L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)			66					AAACTACTCAACCCAGGATCT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000359486.3	1	1	hg19	CCDS14033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1	38	533	0	111	1	8.956751e-01	12	45	0	111	2		0	0	0	0	0	2	1	1	36	521	0	110	2								-8.786040	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.800000	0.570000	1.000000	1.000000	0.817904	0.800000	0	6.800000e-01	9.900000e-01
TCF20	6942	broad.mit.edu	37	22	42611246	42611246	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42611246G>A	ENST00000359486.3	-	1	202	c.66C>T	c.(64-66)caC>caT	p.H22H	TCF20_ENST00000335626.4_Silent_p.H22H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)			66					GGGATGAGCCGTGTACCTCCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000359486.3	1	1	hg19	CCDS14033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	1	0	1	55	277	0	77	1	9.485708e-01	6	21	0	77	2		0	0	0	0	0	2	1	1	53	268	0	76	2								-3.346449	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERHL2	253190	broad.mit.edu	37	22	42967184	42967184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42967184C>T	ENST00000327678.5	+	10	808	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	SERHL2_ENST00000335879.5_Silent_p.L172L|RRP7B_ENST00000357802.2_RNA|RNU6-513P_ENST00000516104.1_RNA|SERHL2_ENST00000407614.4_Silent_p.L56L|SERHL2_ENST00000340239.4_Silent_p.S197S	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2			8					CATCAGGAAGCTGCAGGCCCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000327678.5	1	1	hg19	CCDS14037.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	1	0	1	49	187	0	62	1	8.916513e-01	5	12	0	62	2		0	0	0	0	0	2	1	1	46	183	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLDIP3	84271	broad.mit.edu	37	22	42988051	42988051	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42988051G>A	ENST00000252115.5	-	7	1035	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Silent_p.L155L|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.L282L	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3			16					GGATGGACCAGTCGAGCTCGC	0.542000													Ovarian(52;967 1128 5875 19997 42537)											0							SO:0001819	synonymous_variant			ENST00000252115.5	1	1	hg19	CCDS14038.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	1	0	1	118	623	0	158	1	1	59	153	0	158	2		0	0	0	0	0	2	1	1	116	612	0	155	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYB5R3	1727	broad.mit.edu	37	22	43032837	43032837	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43032837G>T	ENST00000352397.5	-	2	289	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	CYB5R3_ENST00000407623.3_5'UTR|CYB5R3_ENST00000361740.4_Missense_Mutation_p.L46I|CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000407332.1_5'UTR	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3			6				Flavin adenine dinucleotide(DB03147)	ACTGGGAAGAGCACCATATGG	0.607000																								0							SO:0001583	missense			ENST00000352397.5	1	1	hg19	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198982	0.38806	.	.	ENSG00000100243	ENST00000361740;ENST00000352397	D;D	0.87571	-2.27;-2.2	4.96	2.68	0.31781	.	0.873704	0.10018	N	0.726296	T	0.78381	0.4274	L	0.29908	0.895	0.80722	D	1	B;B	0.15473	0.013;0.002	B;B	0.10450	0.005;0.004	T	0.67616	-0.5625	10	0.21540	T	0.41	-29.9184	8.1457	0.31110	0.0:0.2946:0.5437:0.1617	.	46;13	B7Z7L3;P00387	.;NB5R3_HUMAN	I	46;13	ENSP00000354468:L46I;ENSP00000338461:L13I	ENSP00000338461:L13I	L	-	1	0	CYB5R3	41362781	0.874000	0.30092	0.999000	0.59377	0.861000	0.49209	0.867000	0.27968	1.206000	0.43276	0.467000	0.42956	CTC		TCGA-IB-7651-01A-11D-2154-08	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1	1	0	1	21	142	0	30	1	1	118	433	0	30	2		0	0	0	0	0	2	1	9.999980e-01	20	139	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.997948	0.990000	1	9.900000e-01	1
A4GALT	53947	broad.mit.edu	37	22	43089256	43089256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43089256C>T	ENST00000401850.1	-	2	1191	c.702G>A	c.(700-702)atG>atA	p.M234I	A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I|A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I|A4GALT_ENST00000465765.2_5'Flank			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase			11					CGAAGTCCCGCATGCACAGCG	0.652000																								0							SO:0001583	missense			ENST00000401850.1	0	1	hg19	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786510	0.49997	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.70749	-0.51;-0.51;-0.51	5.13	4.11	0.48088	Alpha 1,4-glycosyltransferase domain (1);	0.082662	0.49916	D	0.000121	T	0.53578	0.1805	N	0.16903	0.455	0.32743	N	0.507462	B	0.10296	0.003	B	0.14023	0.01	T	0.57118	-0.7866	10	0.30078	T	0.28	-9.3769	12.372	0.55260	0.0:0.9157:0.0:0.0843	.	234	Q9NPC4	A4GAT_HUMAN	I	234	ENSP00000384794:M234I;ENSP00000249005:M234I;ENSP00000370678:M234I	ENSP00000249005:M234I	M	-	3	0	A4GALT	41419200	0.995000	0.38212	0.985000	0.45067	0.975000	0.68041	2.988000	0.49386	1.143000	0.42306	0.561000	0.74099	ATG		TCGA-IB-7651-01A-11D-2154-08	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	1	0	0	7	149	0	20	1	9.316547e-01	5	99	0	20	2		0	0	0	0	0	2	1	9.809319e-01	7	148	0	20	2								-10.691990	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.580000	0.250000	1.000000	1.000000	0.620942	0.580000	0	3.900000e-01	9.000000e-01
TTLL1	25809	broad.mit.edu	37	22	43442432	43442432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442432C>T	ENST00000266254.7	-	10	1366	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Missense_Mutation_p.G347S	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1			23		Ovarian(80;0.0694)			TCGTAATTGCCGAGGACTTCC	0.498000																								0							SO:0001583	missense			ENST00000266254.7	1	1	hg19	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210431	0.95069	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.11712	2.75;3.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.78049	2.395	0.80722	D	1	D;P	0.55385	0.971;0.952	P;P	0.52598	0.703;0.577	T	0.01545	-1.1328	10	0.54805	T	0.06	.	19.548	0.95307	0.0:1.0:0.0:0.0	.	347;376	O95922-4;O95922	.;TTLL1_HUMAN	S	347;376	ENSP00000333734:G347S;ENSP00000266254:G376S	ENSP00000266254:G376S	G	-	1	0	TTLL1	41772376	1.000000	0.71417	0.940000	0.37924	0.820000	0.46376	7.740000	0.84986	2.621000	0.88768	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	0	0	0	28	747	0	187	0	4.506360e-01	1	40	0	187	2		0	0	0	0	0	2	1	1	28	732	0	187	2								-2.628833	1	1	121412	4	39	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.440000	0.290000	1.000000	0.430000	0.494977	0.440000	0	3.600000e-01	5.600000e-01
TTLL1	25809	broad.mit.edu	37	22	43442565	43442565	+	Silent	SNP	C	C	T	rs143499869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442565C>T	ENST00000266254.7	-	10	1233	c.993G>A	c.(991-993)ccG>ccA	p.P331P	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Silent_p.P302P	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1			23		Ovarian(80;0.0694)			ACGTGAGAGACGGGGACGCAT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000266254.7	1	1	hg19	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719347	0.15372	0.0	2.33E-4	ENSG00000100271	ENST00000495814	.	.	.	5.54	-2.99	0.05497	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	.	9.4624	0.38792	0.1029:0.5492:0.0:0.3479	.	.	.	.	H	257	.	.	R	-	2	0	TTLL1	41772509	0.000000	0.05858	0.388000	0.26195	0.796000	0.44982	-3.454000	0.00465	-0.266000	0.09339	0.549000	0.68633	CGT		TCGA-IB-7651-01A-11D-2154-08	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	1	0	1	104	401	0	120	1	9.997477e-01	7	42	0	120	2		0	0	0	0	0	2	1	1	99	394	0	120	2								-3.594505	1	1	121412	13	44	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTLL1	25809	broad.mit.edu	37	22	43459836	43459836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43459836C>T	ENST00000266254.7	-	7	970	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	TTLL1_ENST00000331018.7_Missense_Mutation_p.A244T	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1			23		Ovarian(80;0.0694)			TTCTGGATGGCGACGTTGGTG	0.532000																								0							SO:0001583	missense			ENST00000266254.7	1	1	hg19	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910476	0.92107	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05855	3.38;3.38	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.66084	0.778;0.941	T	0.00258	-1.1871	10	0.87932	D	0	.	18.6172	0.91306	0.0:1.0:0.0:0.0	.	244;244	O95922-4;O95922	.;TTLL1_HUMAN	T	244	ENSP00000333734:A244T;ENSP00000266254:A244T	ENSP00000266254:A244T	A	-	1	0	TTLL1	41789780	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	7.458000	0.80787	2.837000	0.97791	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	1	0	1	88	394	0	93	1	9.895325e-01	6	28	0	93	2		0	0	0	0	0	2	1	1	88	387	0	93	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCAT	27349	broad.mit.edu	37	22	43529075	43529075	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43529075G>T	ENST00000290429.6	-	4	1192	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)			11		Ovarian(80;0.0694)			TGAGGGTCCAGGTCCACATGT	0.632000																								0							SO:0001583	missense			ENST00000290429.6	1	1	hg19	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514198	0.27123	.	.	ENSG00000100294	ENST00000290429	T	0.47528	0.84	4.28	-3.24	0.05094	.	2.333530	0.02116	N	0.055174	T	0.20820	0.0501	N	0.02011	-0.69	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.21211	-1.0252	10	0.49607	T	0.09	-23.036	4.6378	0.12534	0.0882:0.4118:0.3598:0.1401	.	383	Q8IVS2	FABD_HUMAN	M	383	ENSP00000290429:L383M	ENSP00000290429:L383M	L	-	1	2	MCAT	41859019	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.101000	0.03336	-0.026000	0.13895	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	1	0	1	97	518	0	164	1	9.999999e-01	37	86	0	164	2		0	0	0	0	0	2	1	1	93	506	0	162	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCUBE1	80274	broad.mit.edu	37	22	43614381	43614381	+	Missense_Mutation	SNP	G	G	A	rs150769460	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43614381G>A	ENST00000360835.4	-	15	1897	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1			31		all_neural(38;0.0414)|Ovarian(80;0.07)			AACTGCTGCCGGCCGATGGAC	0.652000																								0							SO:0001583	missense			ENST00000360835.4	1	0	hg19	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101396	0.76983	0.0	0.002326	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.86297	-2.1	4.29	3.2	0.36748	.	0.162750	0.52532	D	0.000063	D	0.88706	0.6509	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.89037	0.3446	10	0.87932	D	0	.	9.6957	0.40156	0.0:0.0:0.5699:0.4301	.	591	Q8IWY4	SCUB1_HUMAN	W	591;221	ENSP00000354080:R591W	ENSP00000354080:R591W	R	-	1	2	SCUBE1	41944325	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	1.520000	0.35899	2.215000	0.71742	0.558000	0.71614	CGG		TCGA-IB-7651-01A-11D-2154-08	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1	148	767	0	182		0	0	0	0	182	2		0	0	0	0	0	2	1	1	147	759	0	180	2								-3.220133	1	1	121402	117	56	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCUBE1	80274	broad.mit.edu	37	22	43623456	43623456	+	Silent	SNP	G	G	A	rs142424380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43623456G>A	ENST00000360835.4	-	10	1257	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1			31		all_neural(38;0.0414)|Ovarian(80;0.07)			TGGTGTTGACGCAGCCCTGGT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000360835.4	1	1	hg19	CCDS14048.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1	39	151	0	33	0	0	0	1	0	33	2		0	0	0	0	0	2	1	1	39	149	0	32	2								-20.000000	1	1	121378	11	38	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCUBE1	80274	broad.mit.edu	37	22	43634902	43634902	+	Silent	SNP	G	G	A	rs140715405	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43634902G>A	ENST00000360835.4	-	7	912	c.786C>T	c.(784-786)ggC>ggT	p.G262G	Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Silent_p.G292G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1			31		all_neural(38;0.0414)|Ovarian(80;0.07)			TGCATCGCACGCCAGTGGCTG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000360835.4	1	1	hg19	CCDS14048.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.631|1.631	-0.518974|-0.518974	0.04171|0.04171	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000381243|ENST00000449304	.|.	.|.	.|.	5.5|5.5	-9.04|-9.04	0.00734|0.00734	.|.	.|.	.|.	.|.	.|.	T|T	0.32133|0.32133	0.0819|0.0819	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43988|0.43988	-0.9357|-0.9357	5|4	0.37606|.	T|.	0.19|.	.|.	0.8891|0.8891	0.01250|0.01250	0.4082:0.1552:0.1447:0.2919|0.4082:0.1552:0.1447:0.2919	.|.	.|.	.|.	.|.	V|C	55|116	.|.	ENSP00000370642:A55V|.	A|R	-|-	2|1	0|0	SCUBE1|SCUBE1	41964846|41964846	0.001000|0.001000	0.12720|0.12720	0.374000|0.374000	0.26016|0.26016	0.025000|0.025000	0.11179|0.11179	-1.629000|-1.629000	0.02029|0.02029	-1.170000|-1.170000	0.02769|0.02769	-2.103000|-2.103000	0.00360|0.00360	GCG|CGT		TCGA-IB-7651-01A-11D-2154-08	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1	56	188	0	42	0	5.440901e-02	0	2	0	42	2		0	0	0	0	0	2	1	1	53	187	0	42	2								-20.000000	1	1	121342	1	28	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCUBE1	80274	broad.mit.edu	37	22	43687117	43687117	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687117T>G	ENST00000360835.4	-	4	545	c.419A>C	c.(418-420)gAg>gCg	p.E140A	SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1			31		all_neural(38;0.0414)|Ovarian(80;0.07)			GCACTGACACTCGTAGCTGCC	0.547000																								0							SO:0001583	missense			ENST00000360835.4	1	1	hg19	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637175	0.87760	.	.	ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460	D;D	0.96522	-4.04;-4.04	4.97	4.97	0.65823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.975;0.999	D	0.92922	0.6356	10	0.13470	T	0.59	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	140;140	B1AH90;Q8IWY4	.;SCUB1_HUMAN	A	140	ENSP00000354080:E140A;ENSP00000290460:E140A	ENSP00000290460:E140A	E	-	2	0	SCUBE1	42017061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.686000	0.84128	2.077000	0.62373	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1	33	111	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	32	110	0	39	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCUBE1	80274	broad.mit.edu	37	22	43687179	43687179	+	Silent	SNP	G	G	A	rs148070276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687179G>A	ENST00000360835.4	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1			31		all_neural(38;0.0414)|Ovarian(80;0.07)			CCTGACACTCGTCCACATCTG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000360835.4	1	1	hg19	CCDS14048.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1	38	158	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	38	154	0	67	2								-20.000000	1	0	121410	20	44	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB6	64800	broad.mit.edu	37	22	43936061	43936061	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43936061G>A	ENST00000262726.7	-	28	4078	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L	EFCAB6_ENST00000396231.2_Silent_p.L1123L|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6			68		Ovarian(80;0.0247)|all_neural(38;0.025)			TGGGCAATGAGAGGGCAGATC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000262726.7	1	1	hg19	CCDS14049.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1	52	279	0	73	0	3.092715e-01	1	6	0	73	2		0	0	0	0	0	2	1	1	52	275	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB6	64800	broad.mit.edu	37	22	43950755	43950755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43950755G>A	ENST00000262726.7	-	27	3895	c.3642C>T	c.(3640-3642)gaC>gaT	p.D1214D	EFCAB6_ENST00000396231.2_Silent_p.D1062D|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6			68		Ovarian(80;0.0247)|all_neural(38;0.025)			TTACCTGTTCGTCCGTCAGGA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000262726.7	1	1	hg19	CCDS14049.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1	95	402	0	81	1	3.732265e-02	2	0	0	81	2		0	0	0	0	0	2	1	1	91	392	0	79	2								-20.000000	1	1	121412	2	36	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB6	64800	broad.mit.edu	37	22	44028018	44028018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44028018C>A	ENST00000262726.7	-	19	2452	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6			68		Ovarian(80;0.0247)|all_neural(38;0.025)			TAGGGAAAAGCTTCAGGCATT	0.562000																								0							SO:0001583	missense			ENST00000262726.7	1	1	hg19	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457970	0.26161	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15139	2.45;2.45	4.61	-7.35	0.01422	EF-hand-like domain (1);	0.966024	0.08569	N	0.926282	T	0.16257	0.0391	L	0.36672	1.1	0.09310	N	1	P;P	0.48016	0.904;0.698	P;B	0.48227	0.571;0.201	T	0.06789	-1.0807	10	0.18276	T	0.48	-4.4141	15.3777	0.74625	0.0:0.7746:0.0:0.2254	.	581;733	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	N	581;733	ENSP00000379533:K581N;ENSP00000262726:K733N	ENSP00000262726:K733N	K	-	3	2	EFCAB6	42359351	0.000000	0.05858	0.000000	0.03702	0.553000	0.35397	-1.587000	0.02108	-1.767000	0.01300	-0.302000	0.09304	AAG		TCGA-IB-7651-01A-11D-2154-08	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1	121	557	0	118	0	0	0	1	0	118	2		0	0	0	0	0	2	1	1	117	534	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB6	64800	broad.mit.edu	37	22	44074024	44074024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44074024G>A	ENST00000262726.7	-	13	1524	c.1271C>T	c.(1270-1272)aCa>aTa	p.T424I	EFCAB6_ENST00000358439.4_3'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6			68		Ovarian(80;0.0247)|all_neural(38;0.025)			TTCTTCTCTTGTTATCGGTCC	0.343000																								0							SO:0001583	missense			ENST00000262726.7	1	1	hg19	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552644	0.45487	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.86030	-2.06;-2.06	4.96	1.56	0.23342	EF-hand-like domain (1);	0.232653	0.32901	N	0.005510	D	0.89815	0.6824	M	0.87547	2.89	0.09310	N	1	P	0.49090	0.919	P	0.57371	0.819	T	0.81697	-0.0815	10	0.54805	T	0.06	-8.9726	7.7694	0.28999	0.0:0.1602:0.5085:0.3313	.	424	Q5THR3	EFCB6_HUMAN	I	272;424	ENSP00000379533:T272I;ENSP00000262726:T424I	ENSP00000262726:T424I	T	-	2	0	EFCAB6	42405357	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.779000	0.26746	0.320000	0.23234	0.650000	0.86243	ACA		TCGA-IB-7651-01A-11D-2154-08	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1	55	217	0	40	1	1.092825e-01	2	1	0	40	2		0	0	0	0	0	2	1	1	54	213	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB6	64800	broad.mit.edu	37	22	44131843	44131843	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44131843C>T	ENST00000262726.7	-	7	791	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6			68		Ovarian(80;0.0247)|all_neural(38;0.025)			AGCTCAAAGGCTTTCATAACA	0.368000																								0							SO:0001583	missense			ENST00000262726.7	1	1	hg19	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024267	0.54683	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.14	5.14	0.70334	EF-hand-like domain (1);	0.189738	0.31859	N	0.006945	T	0.53190	0.1781	M	0.83118	2.625	0.29855	N	0.828138	D;D;D;P	0.65815	0.976;0.995;0.962;0.851	P;D;P;B	0.64144	0.606;0.922;0.681;0.307	T	0.54642	-0.8263	10	0.20519	T	0.43	-25.4603	6.6988	0.23213	0.2817:0.6351:0.0:0.0833	.	74;74;180;180	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	T	28;180;74;74	ENSP00000379533:A28T;ENSP00000262726:A180T;ENSP00000351219:A74T;ENSP00000348391:A74T	ENSP00000262726:A180T	A	-	1	0	EFCAB6	42463176	0.994000	0.37717	0.875000	0.34327	0.886000	0.51366	1.392000	0.34486	2.835000	0.97688	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1	75	336	0	85	1	3.785652e-01	2	5	0	85	2		0	0	0	0	0	2	1	1	75	333	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SULT4A1	25830	broad.mit.edu	37	22	44234874	44234874	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44234874C>A	ENST00000330884.4	-	4	502		c.e4-1		SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Splice_Site	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1			9		Ovarian(80;0.024)|all_neural(38;0.0416)			TATAGATGACCTGTGGGTGAC	0.582000																								0							SO:0001630	splice_region_variant			ENST00000330884.4	1	1	hg19	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726121	0.69074	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7041	0.85367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT4A1	42566207	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.396000	0.79891	2.175000	0.68902	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	1	0	1	62	263	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	61	258	0	66	2								-3.268735	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMM50	25813	broad.mit.edu	37	22	44364674	44364674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44364674G>A	ENST00000350028.4	+	4	455	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_De_novo_Start_InFrame	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component			22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)			TAGACAAGTGGATGTTTTGAT	0.368000																								0							SO:0001583	missense			ENST00000350028.4	1	1	hg19	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103707	0.37145	.	.	ENSG00000100347	ENST00000350028	T	0.29397	1.57	4.92	4.92	0.64577	.	0.052819	0.85682	D	0.000000	T	0.15609	0.0376	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.08472	-1.0720	10	0.02654	T	1	-35.8104	17.478	0.87666	0.0:0.0:1.0:0.0	.	100	Q9Y512	SAM50_HUMAN	N	100	ENSP00000345445:D100N	ENSP00000345445:D100N	D	+	1	0	SAMM50	42696007	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.813000	0.91963	2.436000	0.82500	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	1	0	1	88	407	0	106	1	9.999997e-01	11	90	0	106	2		0	0	0	0	0	2	1	1	87	401	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMM50	25813	broad.mit.edu	37	22	44368124	44368124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368124G>A	ENST00000350028.4	+	5	488	c.331G>A	c.(331-333)Gca>Aca	p.A111T	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	p.A111S(1)		22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)			AGGTGATGACGCACTTCCAAA	0.363000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000350028.4	0	1	hg19	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178579	0.94846	.	.	ENSG00000100347	ENST00000350028	T	0.48836	0.8	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.71170	-0.4671	10	0.41790	T	0.15	-25.4133	17.1579	0.86796	0.0:0.0:1.0:0.0	.	111	Q9Y512	SAM50_HUMAN	T	111	ENSP00000345445:A111T	ENSP00000345445:A111T	A	+	1	0	SAMM50	42699457	1.000000	0.71417	0.773000	0.31616	0.992000	0.81027	9.500000	0.97977	2.364000	0.80123	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	0	0	0	7	317	0	53	1	7.642908e-01	8	117	0	53	2		0	0	0	0	0	2	1	9.793431e-01	7	310	0	53	2								-3.261571	1	1	121412	2	32	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.280000	0.120000	1.000000	0.250000	0.356381	0.280000	0	1.800000e-01	4.500000e-01
SAMM50	25813	broad.mit.edu	37	22	44368749	44368749	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368749A>C	ENST00000350028.4	+	6	586		c.e6-1		SAMM50_ENST00000493161.1_Splice_Site|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component			22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)			TTCCCCTCCTAGGTACTTGGC	0.403000																								0							SO:0001630	splice_region_variant			ENST00000350028.4	1	0	hg19	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745547	0.69418	.	.	ENSG00000100347	ENST00000350028	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2869	0.66251	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SAMM50	42700082	1.000000	0.71417	0.844000	0.33320	0.856000	0.48823	8.988000	0.93501	1.979000	0.57680	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	1	0	1	111	701	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1	102	654	0	111	2								-3.318794	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARVB	29780	broad.mit.edu	37	22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44559756G>A	ENST00000338758.7	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	p.A355T(1)		25		Ovarian(80;0.0246)|all_neural(38;0.0423)			TGTGTCCTTCGCCTTTGAGCT	0.627000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000338758.7	1	1	hg19	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176810	0.78564	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.71579	-0.58;-0.58;-0.58	5.42	4.41	0.53225	Calponin homology domain (5);	0.050704	0.85682	D	0.000000	D	0.84325	0.5447	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	P;D;D;D	0.71870	0.899;0.959;0.975;0.971	D	0.85234	0.1034	10	0.87932	D	0	-0.2485	6.9974	0.24791	0.0882:0.0:0.7402:0.1716	.	322;285;322;355	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	T	355;322;285	ENSP00000384515:A355T;ENSP00000342492:A322T;ENSP00000384353:A285T	ENSP00000342492:A322T	A	+	1	0	PARVB	42891089	1.000000	0.71417	0.892000	0.35008	0.965000	0.64279	3.890000	0.56220	1.290000	0.44636	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	1	0	1	41	337	0	89	1	9.999999e-01	12	193	0	89	2		0	0	0	0	0	2	1	1	41	331	0	86	2								-15.135550	1	1	121412	6	39	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.950000	1.000000	1.000000	0.997155	0.990000	1	9.900000e-01	1
PARVG	64098	broad.mit.edu	37	22	44583713	44583713	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44583713C>T	ENST00000444313.3	+	5	686	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PARVG_ENST00000415224.1_Silent_p.L68L|PARVG_ENST00000422871.1_Silent_p.L68L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma			17		Ovarian(80;0.024)|all_neural(38;0.0299)			GGTCCGCAGCCTGGAGGAGGA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000444313.3	1	1	hg19	CCDS14057.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	1	0	1	57	264	0	88	0	9.999984e-01	0	94	0	88	2		0	0	0	0	0	2	1	1	56	255	0	86	2								-3.301975	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARVG	64098	broad.mit.edu	37	22	44586501	44586501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44586501C>T	ENST00000444313.3	+	7	943	c.459C>T	c.(457-459)gaC>gaT	p.D153D	PARVG_ENST00000415224.1_Silent_p.D153D|PARVG_ENST00000422871.1_Silent_p.D153D	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma			17		Ovarian(80;0.024)|all_neural(38;0.0299)			TCCAGCCCGACCTCTCCCTCC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000444313.3	1	1	hg19	CCDS14057.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	1	0	1	68	316	0	78	0	1	0	131	0	78	2		0	0	0	0	0	2	1	1	67	311	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARVG	64098	broad.mit.edu	37	22	44602221	44602221	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44602221G>T	ENST00000444313.3	+	14	1395	c.911G>T	c.(910-912)aGc>aTc	p.S304I	PARVG_ENST00000415224.1_Missense_Mutation_p.S304I|PARVG_ENST00000422871.1_Missense_Mutation_p.S304I	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma			17		Ovarian(80;0.024)|all_neural(38;0.0299)			GATGCCAAGAGCACACTGAGG	0.602000																								0							SO:0001583	missense			ENST00000444313.3	1	1	hg19	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090273	0.36855	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.64618	-0.11;-0.11;-0.11	4.0	1.33	0.21861	Calponin homology domain (5);	0.428844	0.24779	N	0.035679	T	0.71500	0.3347	L	0.58810	1.83	0.43777	D	0.996304	D	0.89917	1.0	D	0.85130	0.997	T	0.69323	-0.5175	10	0.39692	T	0.17	-4.3916	11.0206	0.47715	0.0:0.5995:0.4005:0.0	.	304	Q9HBI0	PARVG_HUMAN	I	304	ENSP00000391453:S304I;ENSP00000391583:S304I;ENSP00000416761:S304I	ENSP00000416761:S304I	S	+	2	0	PARVG	42933554	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.476000	0.53143	0.731000	0.32448	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	1	0	1	45	272	0	69	0	9.990770e-01	1	65	0	69	2		0	0	0	0	0	2	1	1	45	269	0	69	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
KIAA1644	85352	broad.mit.edu	37	22	44681381	44681381	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44681381G>A	ENST00000381176.4	-	4	658	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644			9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)			ACGGCCTGTGGGGCTTGTGGC	0.687000																								0							SO:0001583	missense			ENST00000381176.4	1	1	hg19	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	4.343	0.063153	0.08388	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	2.83	0.33086	.	0.164918	0.39407	N	0.001376	T	0.15046	0.0363	N	0.03608	-0.345	0.30181	N	0.800376	B	0.06786	0.001	B	0.10450	0.005	T	0.20974	-1.0259	8	0.10377	T	0.69	-29.3991	5.7321	0.18047	0.1539:0.1923:0.6538:0.0	.	176	Q3SXP7	K1644_HUMAN	S	176	.	ENSP00000370568:P176S	P	-	1	0	KIAA1644	43012714	1.000000	0.71417	0.999000	0.59377	0.357000	0.29423	1.915000	0.39976	2.345000	0.79718	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	1	0	1	108	490	0	106	0	3.325014e-02	0	2	0	106	2		0	0	0	0	0	2	1	1	105	482	0	102	2								-3.199917	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LDOC1L	84247	broad.mit.edu	37	22	44893032	44893032	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893032C>A	ENST00000341255.3	-	2	914	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like			11		Ovarian(80;0.024)|all_neural(38;0.0416)			AGGCCACACGCTCGGCCTCAC	0.627000																								0							SO:0001583	missense			ENST00000341255.3	1	1	hg19	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056134	0.36277	.	.	ENSG00000188636	ENST00000341255	T	0.19105	2.17	3.27	2.24	0.28232	.	0.000000	0.47093	D	0.000258	T	0.11110	0.0271	N	0.24115	0.695	0.27200	N	0.960198	P	0.35745	0.518	B	0.36418	0.224	T	0.19516	-1.0303	10	0.14252	T	0.57	-14.7816	6.5382	0.22365	0.0:0.8664:0.0:0.1336	.	135	Q6ICC9	LDOCL_HUMAN	D	135	ENSP00000340434:E135D	ENSP00000340434:E135D	E	-	3	2	LDOC1L	43271696	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.504000	0.22626	0.956000	0.37904	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	1	0	1	42	182	0	57	1	9.999962e-01	25	61	0	57	2		0	0	0	0	0	2	1	1	41	182	0	57	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LDOC1L	84247	broad.mit.edu	37	22	44893044	44893044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893044C>T	ENST00000341255.3	-	2	902	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like			11		Ovarian(80;0.024)|all_neural(38;0.0416)			CGGCCTCACCCGGGAAGCGGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000341255.3	1	1	hg19	CCDS33662.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	1	0	1	40	203	0	58	1	9.999552e-01	24	56	0	58	2		0	0	0	0	0	2	1	1	40	201	0	58	2								-2.546723	1	0	121412	1	31	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PRR5	55615	broad.mit.edu	37	22	45132743	45132743	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45132743C>T	ENST00000336985.6	+	8	1060	c.783C>T	c.(781-783)aaC>aaT	p.N261N	PRR5_ENST00000403581.1_Silent_p.N284N|PRR5_ENST00000006251.7_Silent_p.N252N|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)			11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)			CTCTGCTGAACCCCGTGCAGG	0.692000																								0							SO:0001819	synonymous_variant			ENST00000336985.6	1	1	hg19	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558343	0.27827	.	.	ENSG00000186654	ENST00000455389	.	.	.	5.41	3.19	0.36642	.	.	.	.	.	T	0.52629	0.1746	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	.	4.884	0.13694	0.1335:0.5366:0.2472:0.0827	.	.	.	.	I	221	.	.	T	+	2	0	PRR5	43511407	0.943000	0.32029	1.000000	0.80357	0.896000	0.52359	0.073000	0.14640	1.267000	0.44247	0.313000	0.20887	ACC		TCGA-IB-7651-01A-11D-2154-08	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	1	0	0	115	418	0	80	1	9.999649e-01	20	36	0	80	2		0	0	0	0	0	2	1	1	112	412	0	80	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP8	23779	broad.mit.edu	37	22	45255624	45255624	+	Silent	SNP	C	C	T	rs144257107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45255624C>T	ENST00000389774.2	+	12	1125	c.984C>T	c.(982-984)agC>agT	p.S328S	ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000336963.4_Intron|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.S507S|ARHGAP8_ENST00000389773.5_Silent_p.S419S	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8			29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)			TGGAGAGCAGCCTGCGTGTCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000389774.2	1	1	hg19	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	C	0.881	-0.728824	0.03135	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.14	0.806	0.18708	.	.	.	.	.	T	0.51958	0.1705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	5.938	0.19177	0.0:0.5978:0.1399:0.2623	.	.	.	.	V	368	.	.	A	+	2	0	PRR5-ARHGAP8	43634288	1.000000	0.71417	0.999000	0.59377	0.049000	0.14656	0.876000	0.28092	0.069000	0.16605	-1.512000	0.00943	GCC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	1	0	0	31	159	0	27	1	9.999846e-01	46	47	0	27	2		0	0	0	0	0	2	1	1	29	153	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
PHF21B	112885	broad.mit.edu	37	22	45309858	45309858	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45309858G>A	ENST00000313237.5	-	5	825	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B			25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)			AGATGCCATggaggggtgaag	0.642000																								0							SO:0001819	synonymous_variant			ENST00000313237.5	1	1	hg19	CCDS14061.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	1	0	0	100	395	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	100	370	0	87	2								-3.434613	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP50	10762	broad.mit.edu	37	22	45567527	45567527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45567527C>A	ENST00000347635.4	+	3	582	c.116C>A	c.(115-117)gCc>gAc	p.A39D	NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D|NUP50_ENST00000425733.2_5'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa			9		Ovarian(80;0.00965)|all_neural(38;0.0244)			AAGAATAGAGCCATAAAGAAA	0.403000																								0							SO:0001583	missense			ENST00000347635.4	1	1	hg19	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342059	0.81911	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000424634;ENST00000430547;ENST00000396096;ENST00000422489	.	.	.	4.82	4.82	0.62117	Nuclear pore complex, NUP2/50/61 (1);	0.115168	0.64402	D	0.000018	T	0.69205	0.3085	M	0.68317	2.08	0.80722	D	1	D	0.61697	0.99	D	0.63703	0.917	T	0.65471	-0.6160	9	0.22109	T	0.4	-14.7002	13.265	0.60128	0.1587:0.8413:0.0:0.0	.	39	Q9UKX7	NUP50_HUMAN	D	39;11;39;39;11;39	.	ENSP00000345895:A39D	A	+	2	0	NUP50	43946191	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.659000	0.74412	2.384000	0.81235	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2	1	0	1	68	375	0	88	1	9.999820e-01	27	62	0	88	2		0	0	0	0	0	2	1	1	68	366	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP50	10762	broad.mit.edu	37	22	45577225	45577225	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45577225A>C	ENST00000347635.4	+	6	1528	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D	NUP50_ENST00000407019.2_Missense_Mutation_p.E326D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D|NUP50_ENST00000425733.2_Missense_Mutation_p.E104D|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa			9		Ovarian(80;0.00965)|all_neural(38;0.0244)			AAGTAAAAGAAGAAGATGCTT	0.418000																								0							SO:0001583	missense			ENST00000347635.4	1	1	hg19	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920281	0.73098	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096;ENST00000422489	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.58	0.41010	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.70275	2.135	0.58432	D	0.999998	D;P	0.60160	0.987;0.919	D;D	0.79108	0.992;0.934	T	0.47018	-0.9149	10	0.20046	T	0.44	-42.6985	9.3837	0.38329	0.7895:0.0:0.2105:0.0	.	104;354	B4E2D3;Q9UKX7	.;NUP50_HUMAN	D	354;326;104;326;133	ENSP00000345895:E354D;ENSP00000385555:E326D;ENSP00000406928:E104D;ENSP00000379403:E326D;ENSP00000416264:E133D	ENSP00000345895:E354D	E	+	3	2	NUP50	43955889	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	0.711000	0.25764	0.422000	0.26005	0.529000	0.55759	GAA		TCGA-IB-7651-01A-11D-2154-08	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2	1	0	1	48	253	0	60	1	9.999999e-01	32	102	0	60	2		0	0	0	0	0	2	1	1	47	248	0	59	2								-19.999970	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMC1B	27127	broad.mit.edu	37	22	45767427	45767427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45767427G>A	ENST00000357450.4	-	14	2236	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B			37		Ovarian(80;0.00965)|all_neural(38;0.0416)			AATACATTGAGACTCAATATT	0.289000																								0							SO:0001583	missense			ENST00000357450.4	1	1	hg19	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634746	0.67130	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79749	-1.3;-1.14	5.66	5.66	0.87406	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000019	D	0.87569	0.6210	L	0.60455	1.87	0.47994	D	0.999563	P;D;P	0.63880	0.543;0.993;0.92	P;D;P	0.65443	0.719;0.935;0.783	D	0.87998	0.2754	10	0.66056	D	0.02	.	17.5125	0.87764	0.0:0.0:1.0:0.0	.	746;746;746	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	F	746	ENSP00000350036:S746F;ENSP00000385902:S746F	ENSP00000350036:S746F	S	-	2	0	SMC1B	44146091	1.000000	0.71417	0.992000	0.48379	0.522000	0.34438	5.567000	0.67378	2.669000	0.90835	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	1	0	1	41	128	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	41	127	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMC1B	27127	broad.mit.edu	37	22	45804686	45804686	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45804686G>A	ENST00000357450.4	-	2	202	c.203C>T	c.(202-204)gCa>gTa	p.A68V	SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B			37		Ovarian(80;0.00965)|all_neural(38;0.0416)			TCCAATATGTGCTCCATGAAT	0.338000																								0							SO:0001583	missense			ENST00000357450.4	1	1	hg19	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236098	0.95240	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.09817	2.94;3.25	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000011	T	0.38931	0.1059	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.15093	-1.0449	10	0.72032	D	0.01	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	68;68	Q8NDV3-2;Q8NDV3-3	.;.	V	68	ENSP00000350036:A68V;ENSP00000385902:A68V	ENSP00000350036:A68V	A	-	2	0	SMC1B	44183350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.066000	0.93949	2.773000	0.95371	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	0	0	0	11	415	0	86	0	0	0	1	0	86	2		0	0	0	0	0	2	1	9.981256e-01	10	405	0	86	2								-3.276303	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.320000	0.160000	1.000000	0.300000	0.394418	0.320000	0	2.300000e-01	4.800000e-01
FBLN1	2192	broad.mit.edu	37	22	45946495	45946495	+	Splice_Site	SNP	C	C	T	rs151076402	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45946495C>T	ENST00000327858.6	+	14	1792	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	FBLN1_ENST00000340923.5_Splice_Site_p.T566I|FBLN1_ENST00000442170.2_Splice_Site_p.T566M|FBLN1_ENST00000262722.7_Splice_Site_p.T566I|FBLN1_ENST00000402984.3_Splice_Site_p.T604I|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000348697.2_Splice_Site_p.T566M	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1			30		Ovarian(80;0.00965)|all_neural(38;0.0416)			TCCGCAGCCACGTAAGTCCCT	0.612000																								0							SO:0001630	splice_region_variant			ENST00000327858.6	1	0	hg19	CCDS14067.1	6|6	0.0027472527472527475|0.0027472527472527475	4|4	0.008130081300813009|0.008130081300813009	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	13.03|13.03	2.115394|2.115394	0.37339|0.37339	0.004539|0.004539	0.0|0.0	ENSG00000077942|ENSG00000077942	ENST00000402984;ENST00000262722;ENST00000340923|ENST00000348697;ENST00000327858;ENST00000442170	D;D;D|D;D;D	0.92805|0.84146	-2.25;-3.11;-1.59|-1.7;-1.81;-1.77	4.78|4.78	3.76|3.76	0.43208|0.43208	.|Epidermal growth factor-like (1);	0.186482|0.186482	0.46145|0.46145	D|D	0.000315|0.000315	T|T	0.81597|0.81597	0.4856|0.4856	L|L	0.35288|0.35288	1.05|1.05	0.42767|0.42767	D|D	0.993825|0.993825	D;D|D;D	0.58268|0.89917	0.982;0.982|0.984;1.0	B;P|P;D	0.44623|0.69654	0.406;0.455|0.873;0.965	T|T	0.82770|0.82770	-0.0293|-0.0293	10|10	0.45353|0.46703	T|T	0.12|0.11	.|.	8.6471|8.6471	0.34011|0.34011	0.0:0.8257:0.0:0.1743|0.0:0.8257:0.0:0.1743	.|.	604;566|566;566	B1AHL2;P23142-4|P23142;B1AHL4	.;.|FBLN1_HUMAN;.	I|M	604;566;566|566	ENSP00000385521:T604I;ENSP00000262722:T566I;ENSP00000342212:T566I|ENSP00000262723:T566M;ENSP00000331544:T566M;ENSP00000393812:T566M	ENSP00000262722:T566I|ENSP00000331544:T566M	T|T	+|+	2|2	0|0	FBLN1|FBLN1	44325159|44325159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	1.699000|1.699000	0.37804|0.37804	2.205000|2.205000	0.71048|0.71048	0.462000|0.462000	0.41574|0.41574	ACC;ACC;ACA|ACG		TCGA-IB-7651-01A-11D-2154-08	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	1	0	1	84	391	0	77	0	1	1	362	0	77	2	0	0	0	1	0	0	2	1	1	83	384	0	76	2								-20.000000	1	1	121412	58	50	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATXN10	25814	broad.mit.edu	37	22	46125440	46125440	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46125440G>A	ENST00000252934.5	+	7	1129	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ATXN10_ENST00000381061.4_Silent_p.K224K	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10			10		Ovarian(80;0.00973)|all_neural(38;0.0417)			CTGTGCTCAAGCTGGCCTCTG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000252934.5	1	1	hg19	CCDS14070.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	1	0	1	79	338	0	77	1	1	29	235	0	77	2		0	0	0	0	0	2	1	1	77	334	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPARA	5465	broad.mit.edu	37	22	46614253	46614253	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46614253T>C	ENST00000396000.2	+	5	728	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H|PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha			15		Ovarian(80;0.00965)|all_neural(38;0.0416)		Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CAAATGCCAGTATTGTCGATT	0.498000																								0							SO:0001583	missense			ENST00000396000.2	1	1	hg19	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369900	0.82573	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	5.67	4.65	0.58169	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.116886	0.64402	D	0.000011	D	0.97173	0.9076	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.66056	D	0.02	.	10.7817	0.46382	0.0:0.0738:0.0:0.9262	.	155;155	F1D8S4;Q07869	.;PPARA_HUMAN	H	155	ENSP00000379322:Y155H;ENSP00000262735:Y155H;ENSP00000385523:Y155H;ENSP00000385246:Y155H;ENSP00000408149:Y155H	ENSP00000262735:Y155H	Y	+	1	0	PPARA	44992917	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.119000	0.71590	0.981000	0.38548	0.482000	0.46254	TAT		TCGA-IB-7651-01A-11D-2154-08	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	1	0	1	131	565	0	118	1	9.997540e-01	19	35	0	118	2		0	0	0	0	0	2	1	1	131	550	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPARA	5465	broad.mit.edu	37	22	46627925	46627925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46627925C>T	ENST00000396000.2	+	7	1213	c.948C>T	c.(946-948)gcC>gcT	p.A316A	PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000262735.5_Silent_p.A316A|PPARA_ENST00000407236.1_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha			15		Ovarian(80;0.00965)|all_neural(38;0.0416)		Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TTTATGAGGCCATATTCGCCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000396000.2	1	1	hg19	CCDS33669.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	0	0	0	18	574	0	122	0	1.458507e-01	0	21	0	122	2		0	0	0	0	0	2	1	9.999779e-01	18	560	0	121	2								-3.050578	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.370000	0.220000	1.000000	0.360000	0.437396	0.370000	0	2.900000e-01	5.100000e-01
PKDREJ	10343	broad.mit.edu	37	22	46653832	46653832	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46653832T>G	ENST00000253255.5	-	1	5387	c.5388A>C	c.(5386-5388)caA>caC	p.Q1796H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly			73		Ovarian(80;0.00965)|all_neural(38;0.0416)			TTGCTCTCACTTGCCTCATCA	0.418000																								0							SO:0001583	missense			ENST00000253255.5	1	1	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672873	0.67928	.	.	ENSG00000130943	ENST00000253255	T	0.74737	-0.87	4.8	-2.72	0.05968	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.52532	D	0.000062	T	0.81987	0.4939	M	0.78637	2.42	0.35820	D	0.824515	D	0.89917	1.0	D	0.77004	0.989	T	0.82853	-0.0252	10	0.87932	D	0	-21.0554	10.1347	0.42699	0.0:0.3969:0.0:0.6031	.	1796	Q9NTG1	PKDRE_HUMAN	H	1796	ENSP00000253255:Q1796H	ENSP00000253255:Q1796H	Q	-	3	2	PKDREJ	45032496	0.656000	0.27385	0.977000	0.42913	0.968000	0.65278	-0.152000	0.10159	-0.478000	0.06823	0.254000	0.18369	CAA		TCGA-IB-7651-01A-11D-2154-08	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1	123	1098	0	239		0	0	0	0	239	2		0	0	0	0	0	2	1	1	119	1078	0	239	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999375	0.990000	1	9.900000e-01	1
PKDREJ	10343	broad.mit.edu	37	22	46655499	46655499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655499G>A	ENST00000253255.5	-	1	3720	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly			73		Ovarian(80;0.00965)|all_neural(38;0.0416)			GACCCCCAACGACTTCCTGTA	0.448000																								0							SO:0001583	missense			ENST00000253255.5	1	1	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030850	0.75504	.	.	ENSG00000130943	ENST00000253255	T	0.65364	-0.15	5.04	5.04	0.67666	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000009	D	0.83179	0.5198	M	0.90198	3.095	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.86768	0.1971	10	0.72032	D	0.01	-23.7677	17.7521	0.88438	0.0:0.0:1.0:0.0	.	1241	Q9NTG1	PKDRE_HUMAN	C	1241	ENSP00000253255:R1241C	ENSP00000253255:R1241C	R	-	1	0	PKDREJ	45034163	1.000000	0.71417	0.977000	0.42913	0.735000	0.41995	4.500000	0.60387	2.520000	0.84964	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1	109	481	0	111	0	0	0	1	0	111	2		0	0	0	0	0	2	1	1	108	474	0	111	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKDREJ	10343	broad.mit.edu	37	22	46655796	46655796	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655796G>A	ENST00000253255.5	-	1	3423	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly			73		Ovarian(80;0.00965)|all_neural(38;0.0416)			CCCAGCTGCCGCCTAGCCCTT	0.507000																								0							SO:0001583	missense			ENST00000253255.5	1	1	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865749	0.32977	.	.	ENSG00000130943	ENST00000253255	T	0.37915	1.17	5.23	4.15	0.48705	GPS domain (1);	1.823990	0.02647	N	0.105979	T	0.57227	0.2039	M	0.64997	1.995	0.09310	N	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.40040	-0.9584	10	0.62326	D	0.03	-22.7006	4.9462	0.13991	0.0848:0.1362:0.6207:0.1583	.	1142	Q9NTG1	PKDRE_HUMAN	W	1142	ENSP00000253255:R1142W	ENSP00000253255:R1142W	R	-	1	2	PKDREJ	45034460	0.009000	0.17119	0.820000	0.32676	0.004000	0.04260	1.203000	0.32284	2.623000	0.88846	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1	129	582	0	140	0	3.335880e-02	1	1	0	140	2		0	0	0	0	0	2	1	1	127	574	0	140	2								-20.000000	1	1	121412	2	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKDREJ	10343	broad.mit.edu	37	22	46655931	46655931	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655931T>C	ENST00000253255.5	-	1	3288	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly			73		Ovarian(80;0.00965)|all_neural(38;0.0416)			AAAATAGAAATTCTCACTAGC	0.473000																								0							SO:0001583	missense			ENST00000253255.5	1	1	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.511945	0.27036	.	.	ENSG00000130943	ENST00000253255	T	0.48522	0.81	5.2	4.16	0.48862	.	0.089619	0.47455	N	0.000232	T	0.37812	0.1017	M	0.65498	2.005	0.09310	N	1	P	0.39181	0.663	B	0.33042	0.157	T	0.28332	-1.0047	10	0.26408	T	0.33	-28.9567	5.6471	0.17596	0.1503:0.0805:0.0:0.7692	.	1097	Q9NTG1	PKDRE_HUMAN	V	1097	ENSP00000253255:I1097V	ENSP00000253255:I1097V	I	-	1	0	PKDREJ	45034595	0.816000	0.29132	0.012000	0.15200	0.102000	0.19082	2.169000	0.42434	0.942000	0.37525	0.374000	0.22700	ATT		TCGA-IB-7651-01A-11D-2154-08	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	0	28	283	0	65	0	8.852079e-03	1	1	0	65	2		0	0	0	0	0	2	1	1	27	278	0	65	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.740000	1.000000	1.000000	0.964343	0.990000	1	9.000000e-01	1
PKDREJ	10343	broad.mit.edu	37	22	46655993	46655993	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655993G>A	ENST00000253255.5	-	1	3226	c.3227C>T	c.(3226-3228)aCt>aTt	p.T1076I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly			73		Ovarian(80;0.00965)|all_neural(38;0.0416)			TATGGATACAGTACAGTGGGG	0.512000																								0							SO:0001583	missense			ENST00000253255.5	1	1	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718557	0.30503	.	.	ENSG00000130943	ENST00000253255	T	0.36878	1.23	4.93	-4.29	0.03721	.	2.079570	0.01985	N	0.045099	T	0.27419	0.0673	L	0.40543	1.245	0.09310	N	1	B	0.26002	0.139	B	0.21546	0.035	T	0.33317	-0.9873	10	0.54805	T	0.06	-0.9435	5.2917	0.15731	0.2422:0.0:0.3316:0.4262	.	1076	Q9NTG1	PKDRE_HUMAN	I	1076	ENSP00000253255:T1076I	ENSP00000253255:T1076I	T	-	2	0	PKDREJ	45034657	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.064000	0.11636	-0.302000	0.08869	0.455000	0.32223	ACT		TCGA-IB-7651-01A-11D-2154-08	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1	30	147	0	33	0	0	1	0	0	33	2		0	0	0	0	0	2	1	1	30	146	0	33	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
PKDREJ	10343	broad.mit.edu	37	22	46656713	46656713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46656713G>T	ENST00000253255.5	-	1	2506	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly			73		Ovarian(80;0.00965)|all_neural(38;0.0416)			GTCTGATAGAGATTCTATTAC	0.353000																								0							SO:0001583	missense			ENST00000253255.5	1	1	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424952	0.43020	.	.	ENSG00000130943	ENST00000253255	T	0.36699	1.24	5.18	3.0	0.34707	Egg jelly receptor, REJ-like (1);	0.806157	0.10979	N	0.612902	T	0.30665	0.0772	L	0.50333	1.59	0.09310	N	1	P	0.42620	0.785	B	0.41691	0.364	T	0.31779	-0.9931	10	0.59425	D	0.04	-10.9169	2.5692	0.04790	0.1803:0.1451:0.5255:0.1492	.	836	Q9NTG1	PKDRE_HUMAN	Y	836	ENSP00000253255:S836Y	ENSP00000253255:S836Y	S	-	2	0	PKDREJ	45035377	0.005000	0.15991	0.003000	0.11579	0.153000	0.21895	0.800000	0.27042	1.260000	0.44134	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	1	0	1	40	160	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	40	160	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKDREJ	10343	broad.mit.edu	37	22	46657717	46657717	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46657717A>G	ENST00000253255.5	-	1	1502	c.1503T>C	c.(1501-1503)ggT>ggC	p.G501G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly			73		Ovarian(80;0.00965)|all_neural(38;0.0416)			ATAGCATCTCACCACCTGAAG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000253255.5	1	1	hg19	CCDS14073.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	0	0	1	237	984	0	251	1	1.718644e-01	3	1	0	251	2		0	0	0	0	0	2	1	1	233	956	0	249	2								-20.000000	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC38	55020	broad.mit.edu	37	22	46685356	46685356	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46685356C>T	ENST00000381031.3	+	12	1216	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TTC38_ENST00000445282.2_Silent_p.C322C	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38			12					TGCCCCTGTGCCAGGCCCTGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000381031.3	1	1	hg19	CCDS43030.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	1	0	1	33	263	0	45	1	9.998409e-01	17	91	0	45	2		0	0	0	0	0	2	1	1	32	261	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.940000	1.000000	1.000000	0.996721	0.990000	1	9.900000e-01	1
GTSE1	51512	broad.mit.edu	37	22	46704391	46704391	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46704391G>T	ENST00000454366.1	+	4	525	c.313G>T	c.(313-315)Gct>Tct	p.A105S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1			27		Ovarian(80;0.00965)|all_neural(38;0.0416)			GTACAAAGAAGCTCACTTACT	0.567000													GBM(153;542 1915 12487 29016 50495)											0							SO:0001583	missense			ENST00000454366.1	1	1	hg19	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757456	0.89843	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.42900	0.96	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72040	-0.4410	10	0.87932	D	0	-27.4575	19.5244	0.95197	0.0:0.0:1.0:0.0	.	86	Q9NYZ3	GTSE1_HUMAN	S	105;65	ENSP00000415430:A105S	ENSP00000354634:A65S	A	+	1	0	GTSE1	45083055	1.000000	0.71417	0.620000	0.29132	0.827000	0.46813	6.511000	0.73733	2.700000	0.92200	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	1	0	1	123	429	0	127	1	9.322830e-01	4	14	0	127	2		0	0	0	0	0	2	1	1	122	423	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTSE1	51512	broad.mit.edu	37	22	46712143	46712143	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46712143G>T	ENST00000454366.1	+	7	1478	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1			27		Ovarian(80;0.00965)|all_neural(38;0.0416)			CCCAACCCCAGACTCCGGAAG	0.597000													GBM(153;542 1915 12487 29016 50495)											0							SO:0001583	missense			ENST00000454366.1	1	1	hg19	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872121	0.17322	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07688	3.17	4.61	3.58	0.41010	.	1.240630	0.05179	N	0.501016	T	0.10252	0.0251	L	0.34521	1.04	0.32355	N	0.558	B;B	0.28208	0.056;0.203	B;B	0.26864	0.029;0.074	T	0.21655	-1.0239	10	0.42905	T	0.14	-0.368	13.7669	0.63002	0.0:0.1554:0.8446:0.0	.	403;382	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	H	422;382	ENSP00000415430:Q422H	ENSP00000354634:Q382H	Q	+	3	2	GTSE1	45090807	0.396000	0.25262	0.114000	0.21550	0.331000	0.28603	1.576000	0.36504	1.281000	0.44480	-0.181000	0.13052	CAG		TCGA-IB-7651-01A-11D-2154-08	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	1	0	1	74	424	0	90	1	7.426284e-01	4	13	0	90	2		0	0	0	0	0	2	1	1	73	416	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELSR1	9620	broad.mit.edu	37	22	46787161	46787161	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46787161C>T	ENST00000262738.3	-	16	6171	c.6172G>A	c.(6172-6174)Gca>Aca	p.A2058T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1			95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)			GCCTCAAATGCTTTGGGACAG	0.607000											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000262738.3	1	1	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384062	0.61845	.	.	ENSG00000075275	ENST00000262738	T	0.68479	-0.33	4.03	4.03	0.46877	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	U	0.000002	T	0.72859	0.3513	L	0.35593	1.075	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.79108	0.992;0.585	T	0.73316	-0.4021	10	0.38643	T	0.18	.	16.1498	0.81605	0.0:1.0:0.0:0.0	.	379;2058	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	T	2058	ENSP00000262738:A2058T	ENSP00000262738:A2058T	A	-	1	0	CELSR1	45165825	0.998000	0.40836	0.604000	0.28916	0.179000	0.23085	3.466000	0.53071	1.964000	0.57103	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1	41	173	0	43	1	9.924414e-01	11	24	0	43	2		0	0	0	0	0	2	1	1	39	167	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELSR1	9620	broad.mit.edu	37	22	46859644	46859644	+	Silent	SNP	G	G	A	rs150510873		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46859644G>A	ENST00000262738.3	-	2	4142	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R	CELSR1_ENST00000395964.1_Silent_p.R1381R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1			95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)			AGCCGCCCTCGCGGCTGCGGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000262738.3	1	1	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	4.939	0.174509	0.09391	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.22	-7.57	0.01318	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41016	-0.9532	4	.	.	.	.	0.9322	0.01338	0.373:0.1609:0.2912:0.1749	.	.	.	.	V	756	.	.	A	-	2	0	CELSR1	45238308	0.209000	0.23505	0.890000	0.34922	0.479000	0.33129	-0.551000	0.06027	-1.286000	0.02384	-2.815000	0.00110	GCG		TCGA-IB-7651-01A-11D-2154-08	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1	20	89	0	28	1	7.200139e-01	5	8	0	28	2		0	0	0	0	0	2	1	9.999972e-01	20	87	0	28	2								-20.000000	1	1	119160	2	29	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
CELSR1	9620	broad.mit.edu	37	22	46930291	46930291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46930291C>T	ENST00000262738.3	-	1	2776	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1			95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)			GTACAGCAGACGCCCATTGGG	0.632000																								0							SO:0001583	missense			ENST00000262738.3	1	1	hg19	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.212976|3.212976	0.58452|0.58452	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.54479|.	0.57;0.57|.	4.42|4.42	4.42|4.42	0.53409|0.53409	Cadherin (4);Cadherin-like (1);|.	0.000000|.	0.64402|.	U|.	0.000012|.	T|T	0.68054|0.68054	0.2959|0.2959	L|L	0.48986|0.48986	1.54|1.54	0.40734|0.40734	D|D	0.982777|0.982777	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.67526|0.67526	-0.5648|-0.5648	10|5	0.72032|.	D|.	0.01|.	.|.	16.8638|16.8638	0.86024|0.86024	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	926|.	Q9NYQ6|.	CELR1_HUMAN|.	H|I	926|301	ENSP00000262738:R926H;ENSP00000379293:R926H|.	ENSP00000262738:R926H|.	R|V	-|-	2|1	0|0	CELSR1|CELSR1	45308955|45308955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.538000|0.538000	0.34931|0.34931	7.376000|7.376000	0.79658|0.79658	2.297000|2.297000	0.77311|0.77311	0.462000|0.462000	0.41574|0.41574	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1	39	220	0	53	1	9.944466e-01	16	32	0	53	2		0	0	0	0	0	2	1	1	39	217	0	53	2								-20.000000	1	1	121368	1	27	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
CELSR1	9620	broad.mit.edu	37	22	46931735	46931735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46931735C>T	ENST00000262738.3	-	1	1332	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1			95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)			TCGATGTACACGGTGGCCGTG	0.672000																								0							SO:0001583	missense			ENST00000262738.3	1	1	hg19	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261258	0.80246	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.33216	1.42;1.42	4.8	4.8	0.61643	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	U	0.000025	T	0.68439	0.3001	H	0.95712	3.71	0.46774	D	0.999194	D	0.89917	1.0	D	0.91635	0.999	T	0.80346	-0.1421	10	0.87932	D	0	.	17.4763	0.87659	0.0:1.0:0.0:0.0	.	445	Q9NYQ6	CELR1_HUMAN	M	445	ENSP00000262738:V445M;ENSP00000379293:V445M	ENSP00000262738:V445M	V	-	1	0	CELSR1	45310399	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.498000	0.81546	2.218000	0.71995	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	1	0	1	71	204	0	39	1	9.773234e-01	8	12	0	39	2		0	0	0	0	0	2	1	1	71	203	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CERK	64781	broad.mit.edu	37	22	47116880	47116880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47116880C>T	ENST00000216264.8	-	2	287	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase			20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)			TCCTCAACGGCGATGATCTCA	0.443000																								0							SO:0001583	missense			ENST00000216264.8	1	1	hg19	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049190	0.19827	.	.	ENSG00000100422	ENST00000216264	T	0.17854	2.25	4.97	-6.69	0.01772	Pleckstrin homology domain (1);	0.773503	0.12547	N	0.459389	T	0.08537	0.0212	N	0.19112	0.55	0.30647	N	0.75581	B	0.18310	0.027	B	0.11329	0.006	T	0.32508	-0.9904	10	0.19590	T	0.45	-12.3365	12.5308	0.56113	0.1105:0.7122:0.0:0.1772	.	59	Q8TCT0	CERK1_HUMAN	T	59	ENSP00000216264:A59T	ENSP00000216264:A59T	A	-	1	0	CERK	45495544	0.456000	0.25744	0.004000	0.12327	0.304000	0.27724	-0.668000	0.05268	-1.512000	0.01791	-0.259000	0.10710	GCC		TCGA-IB-7651-01A-11D-2154-08	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	1	0	1	115	557	0	139	1	9.799150e-01	9	23	0	139	2		0	0	0	0	0	2	1	1	115	543	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D22A	25771	broad.mit.edu	37	22	47193447	47193447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47193447G>A	ENST00000337137.4	+	4	733	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TBC1D22A_ENST00000406733.1_Silent_p.A142A|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000380995.1_Silent_p.A142A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A			22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)			GCAGCTCAGCGCTGAGCGAAA	0.647000											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000337137.4	1	1	hg19	CCDS14078.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	1	0	0	56	229	0	69	1	9.999969e-01	15	65	0	69	2		0	0	0	0	0	2	1	1	55	225	0	68	2								-20.000000	1	1	121408	2	32	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D22A	25771	broad.mit.edu	37	22	47393552	47393552	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47393552C>A	ENST00000337137.4	+	10	1314	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A			22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)			TTTGCCCAACCTGGGATTCAA	0.453000																								0							SO:0001583	missense			ENST00000337137.4	1	1	hg19	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452041	0.84209	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.66	5.66	0.87406	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.995	T	0.58188	-0.7680	10	0.72032	D	0.01	.	18.3283	0.90260	0.0:1.0:0.0:0.0	.	383;305;324;383	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	383;324;305;336	ENSP00000336724:P383H;ENSP00000384036:P324H;ENSP00000347932:P305H;ENSP00000385634:P336H	ENSP00000336724:P383H	P	+	2	0	TBC1D22A	45772216	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	6.423000	0.73361	2.654000	0.90174	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	1	0	1	68	298	0	65	1	1	27	126	0	65	2		0	0	0	0	0	2	1	1	67	295	0	63	2								-3.208770	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D22A	25771	broad.mit.edu	37	22	47569242	47569242	+	Silent	SNP	C	C	T	rs144230848	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47569242C>T	ENST00000337137.4	+	13	1693	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	TBC1D22A_ENST00000406733.1_Silent_p.A462A|TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000407381.3_Silent_p.A450A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A			22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)			TTGCTTTTGCCGACGCCCCCA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000337137.4	1	1	hg19	CCDS14078.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	1	0	1	93	636	0	167	1	9.999904e-01	15	97	0	167	2		0	0	0	0	0	2	1	1	92	630	0	165	2								-3.221884	1	1	121412	2	39	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FAM19A5	25817	broad.mit.edu	37	22	49042475	49042475	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:49042475C>T	ENST00000402357.1	+	2	312	c.179C>T	c.(178-180)aCg>aTg	p.T60M	FAM19A5_ENST00000358295.5_Missense_Mutation_p.T53M|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5			7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)			CCTCGGAGGACGATCGCCCGG	0.692000																								0							SO:0001583	missense			ENST00000402357.1	1	1	hg19	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144798	0.77888	0.0	2.37E-4	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.66636	0.2809	L	0.56769	1.78	0.80722	D	1	P;D	0.60160	0.904;0.987	B;P	0.52758	0.226;0.708	T	0.71224	-0.4656	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	53;60	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	M	60;60;53	.	ENSP00000336812:T60M	T	+	2	0	FAM19A5	47428911	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	1	0	1	31	159	0	35	0	9.999272e-01	1	79	0	35	2		0	0	0	0	0	2	1	1	30	155	0	35	2								-20.000000	1	1	120748	4	35	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
BRD1	23774	broad.mit.edu	37	22	50181041	50181041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50181041C>T	ENST00000216267.8	-	7	2947	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	BRD1_ENST00000342989.5_Missense_Mutation_p.A547T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T|BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000404034.1_Missense_Mutation_p.A821T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1			37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)			CATTTACCTGCGTCCAGGCGC	0.657000																								0							SO:0001583	missense			ENST00000216267.8	1	1	hg19	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	5.178	0.218460	0.09810	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.39	3.26	0.37387	.	0.255709	0.44285	N	0.000467	T	0.03871	0.0109	N	0.00170	-1.935	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25916	-1.0118	10	0.09338	T	0.73	.	9.0563	0.36408	0.0:0.1532:0.0:0.8468	.	952;547;821;952	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	821;821;952;509;547;412	ENSP00000216267:A821T;ENSP00000384076:A821T;ENSP00000385858:A952T;ENSP00000437514:A509T;ENSP00000345886:A547T	ENSP00000216267:A821T	A	-	1	0	BRD1	48567045	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	4.009000	0.57110	0.365000	0.24400	-0.302000	0.09304	GCA		TCGA-IB-7651-01A-11D-2154-08	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	1	0	1	61	270	0	70	1	9.999768e-01	18	54	0	70	2		0	0	0	0	0	2	1	1	60	268	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRD1	23774	broad.mit.edu	37	22	50187865	50187865	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50187865C>T	ENST00000216267.8	-	6	2662	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N|BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000404034.1_Missense_Mutation_p.D726N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1			37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)			CAGGTGAGGTCGAGCATGTCC	0.592000																								0							SO:0001583	missense			ENST00000216267.8	1	1	hg19	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792126	0.90453	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.30981	2.38;2.38;2.18;1.95;1.51;1.6	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.988;0.999	T	0.65578	-0.6134	10	0.49607	T	0.09	.	19.1727	0.93585	0.0:1.0:0.0:0.0	.	726;321;726;726	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	N	726;726;726;726;414;321;186	ENSP00000216267:D726N;ENSP00000384076:D726N;ENSP00000385858:D726N;ENSP00000410042:D726N;ENSP00000437514:D414N;ENSP00000345886:D321N	ENSP00000216267:D726N	D	-	1	0	BRD1	48573869	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.591000	0.82666	2.524000	0.85096	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	1	0	1	71	353	0	99	1	9.995031e-01	14	44	0	99	2		0	0	0	0	0	2	1	1	69	349	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRD1	23774	broad.mit.edu	37	22	50191584	50191584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50191584C>T	ENST00000216267.8	-	5	2453	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H|BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000404034.1_Missense_Mutation_p.R656H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1			37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)			TCCCTGATCGCGCAGCCTCAC	0.577000																								0							SO:0001583	missense			ENST00000216267.8	1	1	hg19	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394432	0.83011	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.29	5.29	0.74685	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	P;D;P;D	0.67900	0.895;0.954;0.756;0.951	T	0.52563	-0.8559	10	0.66056	D	0.02	.	18.9391	0.92598	0.0:1.0:0.0:0.0	.	656;251;656;656	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	H	656;656;656;656;344;251;116	ENSP00000216267:R656H;ENSP00000384076:R656H;ENSP00000385858:R656H;ENSP00000410042:R656H;ENSP00000437514:R344H;ENSP00000345886:R251H	ENSP00000216267:R656H	R	-	2	0	BRD1	48577588	1.000000	0.71417	0.957000	0.39632	0.969000	0.65631	7.549000	0.82163	2.458000	0.83093	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	1	0	1	64	240	0	55	1	9.999924e-01	16	52	0	55	2		0	0	0	0	0	2	1	1	61	234	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBED4	9889	broad.mit.edu	37	22	50277250	50277250	+	Translation_Start_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50277250A>T	ENST00000216268.5	+	0	417					NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4			44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)			GGGGGCACAAATGAGCACTTG	0.373000																								0											ENST00000216268.5	0	1	hg19	CCDS33677.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	0	0	0	25	109	0	30	1	9.746529e-01	10	19	0	30	2		0	0	0	0	0	2	1	9.999999e-01	25	109	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
ZBED4	9889	broad.mit.edu	37	22	50278993	50278993	+	Silent	SNP	G	G	A	rs138599627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50278993G>A	ENST00000216268.5	+	2	2160	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4			44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)			AAAAGACCTCGAAGCTGTGGA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000216268.5	1	1	hg19	CCDS33677.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	0	0	0	15	677	0	112	0	1.864463e-01	0	34	0	112	2		0	0	0	0	0	2	1	9.998565e-01	14	668	0	111	2								-3.129278	1	1	121410	1	40	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.270000	0.150000	1.000000	0.260000	0.342526	0.270000	0	2.000000e-01	3.800000e-01
ZBED4	9889	broad.mit.edu	37	22	50280636	50280636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50280636C>T	ENST00000216268.5	+	2	3803	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4			44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)			CTGAAGAAGGCGTCCTGGCCG	0.582000																								0							SO:0001583	missense			ENST00000216268.5	1	1	hg19	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	3.477	-0.106658	0.06924	.	.	ENSG00000100426	ENST00000216268	T	0.25250	1.81	5.17	4.15	0.48705	HAT dimerisation (1);Ribonuclease H-like (1);	0.666618	0.15432	N	0.262679	T	0.17874	0.0429	N	0.21142	0.635	0.09310	N	1	B	0.27882	0.192	B	0.19946	0.027	T	0.11991	-1.0565	10	0.35671	T	0.21	-4.1212	13.5439	0.61690	0.0:0.9256:0.0:0.0744	.	1109	O75132	ZBED4_HUMAN	V	1109	ENSP00000216268:A1109V	ENSP00000216268:A1109V	A	+	2	0	ZBED4	48666640	1.000000	0.71417	0.002000	0.10522	0.207000	0.24258	5.419000	0.66435	1.416000	0.47057	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	1	0	1	59	253	0	52	1	9.707347e-01	8	18	0	52	2		0	0	0	0	0	2	1	1	58	247	0	50	2								-2.819204	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALG12	79087	broad.mit.edu	37	22	50303569	50303569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50303569C>T	ENST00000330817.6	-	5	910	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase			12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)			GCCGGGACGGCGTGGCGAAGG	0.522000																								0							SO:0001583	missense			ENST00000330817.6	1	1	hg19	CCDS14081.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.8	4.575536	0.86645	.	.	ENSG00000182858	ENST00000330817	T	0.62788	0.0	4.43	4.43	0.53597	.	0.048778	0.85682	D	0.000000	T	0.78400	0.4277	M	0.82056	2.57	0.80722	D	1	D	0.67145	0.996	P	0.62184	0.899	T	0.80986	-0.1137	10	0.49607	T	0.09	-10.9563	18.0056	0.89208	0.0:1.0:0.0:0.0	.	213	Q9BV10	ALG12_HUMAN	T	213	ENSP00000333813:A213T	ENSP00000333813:A213T	A	-	1	0	ALG12	48689573	1.000000	0.71417	0.073000	0.20177	0.004000	0.04260	4.036000	0.57304	2.425000	0.82216	0.644000	0.83932	GCC		TCGA-IB-7651-01A-11D-2154-08	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	1	0	1	38	268	0	48	1	9.993054e-01	23	56	0	48	2		0	0	0	0	0	2	1	1	38	261	0	48	2								-3.222011	1	1	121410	12	39	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999569	0.990000	1	9.900000e-01	1
ALG12	79087	broad.mit.edu	37	22	50307102	50307102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50307102C>A	ENST00000330817.6	-	3	499	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase			12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)			CTGGAGAACACTGCGATCACC	0.572000																								0							SO:0001583	missense			ENST00000330817.6	1	1	hg19	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944639	0.02304	.	.	ENSG00000182858	ENST00000330817	D	0.81996	-1.56	5.34	4.32	0.51571	.	0.435749	0.25341	N	0.031376	T	0.65080	0.2657	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46428	-0.9192	10	0.10377	T	0.69	-10.6288	9.9025	0.41355	0.138:0.7893:0.0:0.0727	.	76	Q9BV10	ALG12_HUMAN	L	76	ENSP00000333813:V76L	ENSP00000333813:V76L	V	-	1	0	ALG12	48693106	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	1.792000	0.38754	1.259000	0.44117	-0.216000	0.12614	GTG		TCGA-IB-7651-01A-11D-2154-08	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	1	0	0	36	356	0	83	1	9.970568e-01	8	82	0	83	2		0	0	0	0	0	2	1	1	36	349	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.790000	1.000000	1.000000	0.975229	0.990000	1	9.300000e-01	1
PIM3	415116	broad.mit.edu	37	22	50356512	50356512	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50356512A>G	ENST00000360612.4	+	5	1227	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase					all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)			GGGTCTCTCCAGGTGCGTGGT	0.677000																								0							SO:0001630	splice_region_variant			ENST00000360612.4	1	0	hg19	CCDS33678.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	1	0	0	13	308	0	43	1	9.999419e-01	10	416	0	43	2		0	0	0	0	0	2	1	9.995018e-01	13	302	0	40	2								-14.456440	1	1	121302	1	31	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.500000	0.270000	1.000000	0.470000	0.555275	0.500000	0	3.700000e-01	7.100000e-01
IL17REL	400935	broad.mit.edu	37	22	50439203	50439203	+	Missense_Mutation	SNP	G	G	A	rs143091006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439203G>A	ENST00000389983.2	-	5	463	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like			6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)			CCCTGCTGCCGGTGGGAGGCC	0.706000																								0							SO:0001583	missense			ENST00000389983.2	1	1	hg19	CCDS33679.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	16.01	3.000076	0.54147	0.005232	0.0	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.16073	2.37;2.37	3.36	1.11	0.20524	.	0.440966	0.17529	U	0.170950	T	0.15522	0.0374	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.53861	0.736	T	0.06338	-1.0832	10	0.59425	D	0.04	.	3.456	0.07515	0.141:0.0:0.6043:0.2547	.	67	Q6ZVW7	I17EL_HUMAN	W	67	ENSP00000374633:R67W;ENSP00000342520:R67W	ENSP00000342520:R67W	R	-	1	2	IL17REL	48781330	0.054000	0.20591	0.119000	0.21687	0.081000	0.17604	1.066000	0.30604	0.495000	0.27882	0.651000	0.88453	CGG		TCGA-IB-7651-01A-11D-2154-08	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	0	0	0	8	127	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.897563e-01	8	126	0	23	2								-8.347727	1	1	121092	64	43	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.750000	0.350000	1.000000	1.000000	0.756006	0.750000	0	5.200000e-01	1
IL17REL	400935	broad.mit.edu	37	22	50439631	50439631	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439631G>A	ENST00000389983.2	-	0	253				IL17REL_ENST00000341280.5_De_novo_Start_OutOfFrame	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like			6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)			GACACGGGGCGTGGCCGGCAG	0.627000																								0											ENST00000389983.2	0	1	hg19	CCDS33679.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	0	0	0	7	40	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.821044e-01	6	40	0	11	2								-14.531190	1	1	120168	1	28	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.790000	1.000000	1.000000	0.987104	0.990000	1	9.900000e-01	1
TTLL8	164714	broad.mit.edu	37	22	50471771	50471771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50471771C>T	ENST00000266182.6	-	10	1142	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	TTLL8_ENST00000440475.1_Silent_p.T361T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8			12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)			TGAGCAGCGGCGTCTCGATGT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000266182.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	14	53	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.998488e-01	14	52	0	28	2								-20.000000	1	1	121076	16	40	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999808	0.990000	1	9.900000e-01	1
TTLL8	164714	broad.mit.edu	37	22	50479664	50479664	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50479664G>T	ENST00000266182.6	-	8	872	c.873C>A	c.(871-873)atC>atA	p.I291I	TTLL8_ENST00000440475.1_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8			12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)			TAACCTTCTGGATTTTGAAGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000266182.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	120	534	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1	119	525	0	149	2								-20.000000	1	1	120890	1	31	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTLL8	164714	broad.mit.edu	37	22	50480200	50480200	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50480200G>A	ENST00000266182.6	-	7	679	c.680C>T	c.(679-681)cCg>cTg	p.P227L	TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8			12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)			AAGCTGCCCCGGGAGGCCCCT	0.632000																								0							SO:0001583	missense			ENST00000266182.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.72	2.618531	0.46736	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.54479	3.53;0.57;0.57	4.66	4.66	0.58398	.	0.667620	0.12772	N	0.440413	T	0.60418	0.2267	L	0.61036	1.89	0.09310	N	0.999999	D	0.71674	0.998	P	0.49597	0.616	T	0.55405	-0.8146	10	0.37606	T	0.19	.	16.4517	0.83993	0.0:0.0:1.0:0.0	.	227	B5MDV0	.	L	227;227;263	ENSP00000266182:P227L;ENSP00000387509:P227L;ENSP00000392252:P263L	ENSP00000266182:P227L	P	-	2	0	TTLL8	48822327	0.859000	0.29813	0.005000	0.12908	0.006000	0.05464	1.942000	0.40243	2.406000	0.81754	0.484000	0.47621	CCG		TCGA-IB-7651-01A-11D-2154-08	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	14	60	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.998398e-01	14	59	0	15	2								-3.280587	1	1	121028	2	31	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999628	0.990000	1	9.900000e-01	1
TTLL8	164714	broad.mit.edu	37	22	50493029	50493029	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50493029A>C	ENST00000266182.6	-	1	26	c.27T>G	c.(25-27)acT>acG	p.T9T	TTLL8_ENST00000440475.1_Silent_p.T9T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8			12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)			agtacctggaagtctgtttcc	0.587000																								0							SO:0001819	synonymous_variant			ENST00000266182.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	7	37	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.822264e-01	7	36	0	12	2								-14.512020	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.820000	1.000000	1.000000	0.989882	0.990000	1	9.900000e-01	1
MOV10L1	54456	broad.mit.edu	37	22	50552182	50552182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50552182G>T	ENST00000262794.5	+	6	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1			67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)			GAACCCTAAAGGAAGGAAGAA	0.398000																								0							SO:0001583	missense			ENST00000262794.5	1	1	hg19	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886462	0.51908	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86497	-1.94;-1.94;-1.53;-2.13	6.17	-3.19	0.05171	.	0.235942	0.50627	N	0.000118	D	0.83216	0.5206	M	0.64997	1.995	0.45791	D	0.99867	D;P;P;P	0.55800	0.973;0.682;0.907;0.948	P;B;B;B	0.51742	0.678;0.376;0.303;0.303	T	0.76361	-0.2987	10	0.26408	T	0.33	-14.8035	2.8453	0.05541	0.5148:0.1095:0.2674:0.1084	.	44;263;283;283	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	N	283;283;283;263	ENSP00000438978:K283N;ENSP00000262794:K283N;ENSP00000379199:K283N;ENSP00000438542:K263N	ENSP00000262794:K283N	K	+	3	2	MOV10L1	48894309	0.184000	0.23200	0.023000	0.16930	0.530000	0.34684	0.109000	0.15417	-0.827000	0.04278	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	1	0	1	75	292	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	71	281	0	86	2								-3.020468	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOV10L1	54456	broad.mit.edu	37	22	50564678	50564678	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50564678G>A	ENST00000262794.5	+	12	1878	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	p.E599K(1)		67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)			ACATGCCATCGAATACATCAG	0.383000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262794.5	1	1	hg19	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690276	0.68271	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85629	-1.82;-1.82;-1.41;-2.01	5.46	5.46	0.80206	.	0.098399	0.64402	D	0.000002	D	0.87083	0.6089	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.98;0.98	P;P;B;B	0.56788	0.806;0.64;0.436;0.436	D	0.83584	0.0119	10	0.17369	T	0.5	-39.1041	12.5473	0.56208	0.0:0.1675:0.8325:0.0	.	360;579;599;599	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	599;599;599;579	ENSP00000438978:E599K;ENSP00000262794:E599K;ENSP00000379199:E599K;ENSP00000438542:E579K	ENSP00000262794:E599K	E	+	1	0	MOV10L1	48906805	1.000000	0.71417	0.890000	0.34922	0.929000	0.56500	4.187000	0.58344	2.542000	0.85734	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	1	0	1	48	225	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	46	222	0	52	2								-3.099200	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PANX2	56666	broad.mit.edu	37	22	50615556	50615556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50615556G>A	ENST00000395842.2	+	2	415	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2			7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)			GTACGTGCCCGCGCTGGGCTG	0.687000																								0							SO:0001583	missense			ENST00000395842.2	0	1	hg19	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465657	0.84425	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.29655	1.56;1.56	4.54	3.5	0.40072	.	0.064589	0.64402	D	0.000008	T	0.22859	0.0552	L	0.36672	1.1	0.58432	D	0.999997	P;P	0.42757	0.597;0.789	B;B	0.37015	0.089;0.239	T	0.08086	-1.0739	10	0.54805	T	0.06	-13.0858	12.2486	0.54585	0.0843:0.0:0.9157:0.0	.	139;139	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	139	ENSP00000159647:A139T;ENSP00000379183:A139T	ENSP00000159647:A139T	A	+	1	0	PANX2	48957683	1.000000	0.71417	0.880000	0.34516	0.988000	0.76386	7.571000	0.82399	2.251000	0.74343	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	1	0	1	13	99	0	16	0	1.206142e-01	0	5	0	16	2		0	0	0	0	0	2	1	9.995965e-01	13	97	0	16	2								-19.841260	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.790000	1.000000	1.000000	0.986069	0.990000	1	9.900000e-01	1
TRABD	80305	broad.mit.edu	37	22	50635949	50635949	+	Silent	SNP	C	C	T	rs139568052	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50635949C>T	ENST00000303434.4	+	7	722	c.603C>T	c.(601-603)atC>atT	p.I201I	TRABD_ENST00000395829.1_Silent_p.I201I|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000380909.4_Silent_p.I201I|TRABD_ENST00000395827.1_Silent_p.I201I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing			7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)			AGAGGGCCATCGCAGCGCTCT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000303434.4	1	1	hg19	CCDS14086.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	1	0	1	93	354	0	80	1	1	67	127	0	80	2		0	0	0	0	0	2	1	1	88	342	0	77	2								-3.638607	1	1	121408	1	35	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SELO	0	broad.mit.edu	37	22	50648614	50648614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50648614C>T	ENST00000380903.2	+	4	1002	c.944C>T	c.(943-945)aCg>aTg	p.T315M	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN						all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)			CCCCAGGTGACGCGGCGCACG	0.662000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000380903.2	1	0	hg19	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260669	0.59431	.	.	ENSG00000073169	ENST00000380903	T	0.41758	0.99	5.19	3.05	0.35203	.	0.211356	0.49305	D	0.000146	T	0.37839	0.1018	L	0.33245	0.995	0.48185	D	0.999602	P;P	0.52577	0.95;0.954	P;B	0.49361	0.608;0.36	T	0.07214	-1.0784	10	0.37606	T	0.19	.	10.5425	0.45041	0.0:0.7939:0.1337:0.0724	.	315;158	Q9BVL4;Q6ICA4	SELO_HUMAN;.	M	315	ENSP00000370288:T315M	ENSP00000370288:T315M	T	+	2	0	RP3-402G11.5	48990741	0.946000	0.32159	0.618000	0.29105	0.700000	0.40528	1.945000	0.40273	0.721000	0.32231	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2	0	0	1	61	201	0	42	1	1	36	111	0	42	2		0	0	0	0	0	2	1	1	58	196	0	42	2								-20.000000	1	1	121078	1	25	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBGCP6	85378	broad.mit.edu	37	22	50664719	50664719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50664719G>A	ENST00000248846.5	-	8	1794	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R564*|TUBGCP6_ENST00000491449.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6			45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CACCTACCTCGGAAGCTGAGG	0.617000																								0							SO:0001587	stop_gained			ENST00000248846.5	0	1	hg19	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	40	8.463773	0.98822	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	5.32	1.49	0.22878	.	0.157011	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9083	0.63850	0.0:0.0:0.3878:0.6122	.	.	.	.	X	564	.	ENSP00000248846:R564X	R	-	1	2	TUBGCP6	49006846	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	2.718000	0.47236	0.313000	0.23062	-0.397000	0.06425	CGA		TCGA-IB-7651-01A-11D-2154-08	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	1	0	0	12	292	0	46	0	3.023292e-01	0	26	0	46	2		0	0	0	0	0	2	1	9.990758e-01	12	287	0	43	2								-13.267290	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.490000	0.260000	1.000000	0.460000	0.545808	0.490000	0	3.600000e-01	7.100000e-01
TUBGCP6	85378	broad.mit.edu	37	22	50671771	50671771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50671771C>T	ENST00000248846.5	-	3	1194	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V364M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6			45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GTGGCAGACACGACCCCAATC	0.642000																								0							SO:0001583	missense			ENST00000248846.5	1	1	hg19	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379591	0.61845	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.07908	3.15;3.15	5.69	3.55	0.40652	.	0.603759	0.17925	N	0.157367	T	0.08670	0.0215	L	0.53249	1.67	0.09310	N	1	P;P	0.49862	0.929;0.929	B;B	0.37198	0.243;0.243	T	0.17167	-1.0378	10	0.48119	T	0.1	.	11.0148	0.47682	0.0:0.7994:0.1299:0.0707	.	364;364	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	364	ENSP00000248846:V364M;ENSP00000397387:V364M	ENSP00000248846:V364M	V	-	1	0	TUBGCP6	49013898	0.836000	0.29430	0.004000	0.12327	0.773000	0.43773	4.750000	0.62162	0.715000	0.32103	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	1	0	1	23	131	0	31	1	8.715726e-01	5	18	0	31	2		0	0	0	0	0	2	1	9.999997e-01	23	131	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999726	0.990000	1	9.900000e-01	1
TUBGCP6	85378	broad.mit.edu	37	22	50682221	50682221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50682221G>A	ENST00000248846.5	-	1	772	c.668C>T	c.(667-669)aCt>aTt	p.T223I	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T223I|MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6			45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CATGTCATAAGTGCGGCTGTG	0.577000																								0							SO:0001583	missense			ENST00000248846.5	1	1	hg19	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564894	0.86439	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.19806	2.46;2.12	4.17	4.17	0.49024	.	0.066129	0.64402	D	0.000014	T	0.44561	0.1299	M	0.69823	2.125	0.54753	D	0.99998	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.66497	0.919;0.918;0.944	T	0.50048	-0.8873	10	0.72032	D	0.01	.	16.2595	0.82533	0.0:0.0:1.0:0.0	.	223;223;223	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	I	223	ENSP00000248846:T223I;ENSP00000397387:T223I	ENSP00000248846:T223I	T	-	2	0	TUBGCP6	49024348	1.000000	0.71417	0.848000	0.33437	0.725000	0.41563	9.236000	0.95360	2.150000	0.67090	0.555000	0.69702	ACT		TCGA-IB-7651-01A-11D-2154-08	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	1	0	1	39	225	0	34	1	9.559351e-01	4	28	0	34	2		0	0	0	0	0	2	1	1	39	214	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
MAPK12	6300	broad.mit.edu	37	22	50695062	50695062	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50695062C>T	ENST00000215659.8	-	6	785	c.470G>A	c.(469-471)gGc>gAc	p.G157D	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12			8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			AGCCAGGTTGCCGGGCTTCAG	0.652000																								0							SO:0001583	missense			ENST00000215659.8	1	1	hg19	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370771	0.82573	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.12879	2.64;2.64	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232365	0.21899	U	0.067461	T	0.20618	0.0496	N	0.13272	0.32	0.80722	D	1	D;D;D	0.60575	0.971;0.988;0.964	P;P;P	0.62885	0.908;0.889;0.851	T	0.17410	-1.0370	10	0.87932	D	0	-29.3733	16.9691	0.86294	0.0:1.0:0.0:0.0	.	67;157;147	B5MDL5;P53778;F6TXG5	.;MK12_HUMAN;.	D	147;67;157	ENSP00000379126:G67D;ENSP00000215659:G157D	ENSP00000215659:G157D	G	-	2	0	MAPK12	49037189	0.593000	0.26840	0.986000	0.45419	0.787000	0.44495	4.173000	0.58249	2.241000	0.73720	0.549000	0.68633	GGC		TCGA-IB-7651-01A-11D-2154-08	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	1	0	1	104	468	0	93	1	9.998664e-01	22	38	0	93	2		0	0	0	0	0	2	1	1	102	465	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK11	5600	broad.mit.edu	37	22	50705581	50705581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50705581G>T	ENST00000330651.6	-	6	570	c.470C>A	c.(469-471)gCt>gAt	p.A157D	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11			6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		Regorafenib(DB08896)	CTCGTTCACAGCCACGTTGCT	0.706000													GBM(9;634 739 50668)											0							SO:0001583	missense			ENST00000330651.6	1	1	hg19	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	g	32	5.128724	0.94473	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.65364	-0.15;-0.15	4.84	3.8	0.43715	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.65015	0.2651	N	0.17082	0.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.988;0.999	T	0.70015	-0.4988	10	0.72032	D	0.01	-12.0188	13.5162	0.61541	0.0:0.0:0.8421:0.1579	.	49;157	B7Z630;Q15759	.;MK11_HUMAN	D	157;49	ENSP00000333685:A157D;ENSP00000406921:A49D	ENSP00000333685:A157D	A	-	2	0	MAPK11	49047708	1.000000	0.71417	0.829000	0.32907	0.990000	0.78478	7.347000	0.79356	1.160000	0.42584	0.537000	0.68136	GCT		TCGA-IB-7651-01A-11D-2154-08	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1	1	0	1	23	109	0	14	1	9.694620e-01	8	22	0	14	2		0	0	0	0	0	2	1	9.999995e-01	22	105	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
PLXNB2	23654	broad.mit.edu	37	22	50719911	50719911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50719911G>A	ENST00000449103.1	-	22	3680	c.3540C>T	c.(3538-3540)cgC>cgT	p.R1180R	PLXNB2_ENST00000359337.4_Silent_p.R1180R|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2			66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GCACCCACTCGCGAGAGCCGA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000449103.1	1	1	hg19	CCDS43035.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1	51	206	0	30	1	1	224	296	0	30	2	1	1	201	911	0	992	2	1	1	51	199	0	30	2								-20.000000	1	1	120828	1	28	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNB2	23654	broad.mit.edu	37	22	50728054	50728054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728054G>A	ENST00000449103.1	-	3	1100	c.960C>T	c.(958-960)caC>caT	p.H320H	PLXNB2_ENST00000359337.4_Silent_p.H320H			O15031	PLXB2_HUMAN	plexin B2			66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CCATCTTGGCGTGCACCTTGT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000449103.1	1	1	hg19	CCDS43035.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1	80	358	0	64	1	1	10	146	0	64	2	1	1	49	331	0	298	2	1	1	78	351	0	63	2								-20.000000	1	1	120706	13	43	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNB2	23654	broad.mit.edu	37	22	50728215	50728215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728215G>A	ENST00000449103.1	-	3	939	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R267W			O15031	PLXB2_HUMAN	plexin B2			66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			TCGGGGTCCCGGCACTGCAGG	0.652000																								0							SO:0001583	missense			ENST00000449103.1	0	1	hg19	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074264	0.36566	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.11169	2.8;2.8;2.8	4.62	2.49	0.30216	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.274000	0.05777	N	0.608001	T	0.17323	0.0416	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.55303	0.773	T	0.26573	-1.0099	10	0.66056	D	0.02	.	7.6582	0.28388	0.0801:0.0:0.5201:0.3998	.	267	O15031	PLXB2_HUMAN	W	267	ENSP00000409171:R267W;ENSP00000352288:R267W;ENSP00000392620:R267W	ENSP00000352288:R267W	R	-	1	2	PLXNB2	49070342	0.004000	0.15560	0.269000	0.24586	0.281000	0.26958	0.030000	0.13688	0.545000	0.28902	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	0	0	0	6	322	0	45	0	9.410419e-01	1	273	0	45	2	1	9.980434e-01	23	672	0	690	2	1	9.636501e-01	7	316	0	45	2								-6.247759	1	0	120860	1	34	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.240000	0.090000	1.000000	0.220000	0.321200	0.240000	0	1.500000e-01	4.000000e-01
PLXNB2	23654	broad.mit.edu	37	22	50728347	50728347	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728347C>T	ENST00000449103.1	-	3	807	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K			O15031	PLXB2_HUMAN	plexin B2			66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GGGCCGTCCTCGAAGGCCGCC	0.622000																								0							SO:0001583	missense			ENST00000449103.1	1	1	hg19	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640349	0.47153	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.04758	3.56;3.56;3.56	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	D	0.000026	T	0.04998	0.0134	L	0.37897	1.145	0.44149	D	0.996942	B	0.29162	0.235	B	0.25140	0.058	T	0.38394	-0.9663	10	0.08837	T	0.75	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	223	O15031	PLXB2_HUMAN	K	223	ENSP00000409171:E223K;ENSP00000352288:E223K;ENSP00000392620:E223K	ENSP00000352288:E223K	E	-	1	0	PLXNB2	49070474	0.950000	0.32346	0.991000	0.47740	0.926000	0.56050	2.585000	0.46111	2.391000	0.81399	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1	61	272	0	64	1	1	105	150	0	64	2	1	1	311	1229	2	1545	8	1	1	60	268	0	61	2								-3.338927	1	1	121050	7	37	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SBF1	6305	broad.mit.edu	37	22	50899987	50899987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50899987C>T	ENST00000390679.3	-	22	2988	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q|SBF1_ENST00000380817.3_Missense_Mutation_p.R935Q			O95248	MTMR5_HUMAN	SET binding factor 1			43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GAAGATGACCCGGTACGTGGT	0.682000																								0							SO:0001583	missense			ENST00000390679.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.423355	0.96111	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86030	-2.06;-2.06;-2.06	3.96	3.96	0.45880	GRAM (2);	0.065333	0.64402	D	0.000018	D	0.92685	0.7675	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.996;0.99	D	0.94148	0.7403	10	0.87932	D	0	.	15.801	0.78453	0.0:1.0:0.0:0.0	.	935;936;935	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	Q	935;936;945;935	ENSP00000370196:R935Q;ENSP00000252027:R936Q;ENSP00000375097:R935Q	ENSP00000336522:R945Q	R	-	2	0	SBF1	49246853	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.492000	0.66893	2.048000	0.60808	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	SBF1-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	10	205	0	41	0	5.731869e-01	1	38	0	41	2		0	0	0	0	0	2	1	9.966317e-01	9	200	0	41	2								-3.103915	1	1	120896	1	25	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.590000	0.290000	1.000000	0.540000	0.627776	0.590000	0	4.200000e-01	8.600000e-01
SBF1	6305	broad.mit.edu	37	22	50903334	50903334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50903334C>T	ENST00000390679.3	-	13	1529	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SBF1_ENST00000348911.6_Missense_Mutation_p.E450K|SBF1_ENST00000380817.3_Missense_Mutation_p.E449K			O95248	MTMR5_HUMAN	SET binding factor 1			43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CTTGCCACCTCGTGGGCCACC	0.642000																								0							SO:0001583	missense			ENST00000390679.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.40	2.225242	0.39300	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86497	-2.13;-2.13;-2.13	3.93	3.93	0.45458	.	0.301834	0.30820	N	0.008819	T	0.80237	0.4586	L	0.53249	1.67	0.44447	D	0.997375	P;B;B	0.37612	0.602;0.414;0.414	B;B;B	0.29440	0.102;0.051;0.051	T	0.78984	-0.1988	10	0.07325	T	0.83	.	15.7463	0.77944	0.0:1.0:0.0:0.0	.	449;450;449	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	K	449;450;460;459;449	ENSP00000370196:E449K;ENSP00000252027:E450K;ENSP00000375097:E449K	ENSP00000336522:E459K	E	-	1	0	SBF1	49250200	0.980000	0.34600	0.970000	0.41538	0.971000	0.66376	2.869000	0.48444	2.038000	0.60285	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	SBF1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	49	254	0	58	1	9.999957e-01	30	68	0	58	2		0	0	0	0	0	2	1	1	49	251	0	56	2								-3.164906	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SBF1	6305	broad.mit.edu	37	22	50904432	50904432	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50904432C>T	ENST00000390679.3	-	9	1153	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SBF1_ENST00000348911.6_Silent_p.L324L|SBF1_ENST00000380817.3_Silent_p.L323L			O95248	MTMR5_HUMAN	SET binding factor 1			43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GTGGCTCTGGCAAGGGTGGAA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000390679.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SBF1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	91	477	0	127	1	9.999491e-01	15	61	0	127	2		0	0	0	0	0	2	1	1	91	471	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SBF1	6305	broad.mit.edu	37	22	50905844	50905844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50905844C>A	ENST00000390679.3	-	5	656	c.472G>T	c.(472-474)Gag>Tag	p.E158*	SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*|SBF1_ENST00000380817.3_Nonsense_Mutation_p.E158*			O95248	MTMR5_HUMAN	SET binding factor 1			43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			TTCAGGCCCTCCACGTGGATG	0.627000																								0							SO:0001587	stop_gained			ENST00000390679.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	39	7.469269	0.98302	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	.	.	.	4.75	4.75	0.60458	.	0.570441	0.17223	N	0.182256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3763	0.55281	0.0:0.9154:0.0:0.0846	.	.	.	.	X	158;159;169;168;158	.	ENSP00000336522:E168X	E	-	1	0	SBF1	49252710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.532000	0.67154	2.467000	0.83353	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	SBF1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	140	520	0	104	1	9.999972e-01	7	62	0	104	2		0	0	0	0	0	2	1	1	137	516	0	102	2								-3.601063	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADM2	79924	broad.mit.edu	37	22	50921212	50921212	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50921212C>A	ENST00000395738.2	+	2	619	c.327C>A	c.(325-327)ggC>ggA	p.G109G	ADM2_ENST00000362068.2_Missense_Mutation_p.A26D|ADM2_ENST00000395737.1_Silent_p.G109G	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2			2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			TGCGAGTGGGCTGTGTGCTGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000395738.2	1	1	hg19	CCDS33682.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128692	0.56721	.	.	ENSG00000128165	ENST00000362068	.	.	.	4.62	3.61	0.41365	.	.	.	.	.	T	0.46964	0.1420	.	.	.	0.24873	N	0.992271	.	.	.	.	.	.	T	0.40232	-0.9574	5	0.87932	D	0	.	10.2761	0.43510	0.0:0.9014:0.0:0.0986	.	.	.	.	D	26	.	ENSP00000354955:A26D	A	+	2	0	ADM2	49268078	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	1.381000	0.34362	0.936000	0.37367	0.448000	0.29417	GCT		TCGA-IB-7651-01A-11D-2154-08	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	0	0	0	22	110	0	22	0	2.764577e-01	1	5	0	22	2		0	0	0	0	0	2	1	9.999993e-01	22	109	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
LMF2	91289	broad.mit.edu	37	22	50944481	50944481	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50944481C>T	ENST00000474879.2	-	5	772	c.757G>A	c.(757-759)Gct>Act	p.A253T	NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.A228T|NCAPH2_ENST00000420993.2_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2			10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)			TAGAAAGCAGCCAAGCGCAGG	0.652000																								0							SO:0001583	missense			ENST00000474879.2	0	1	hg19	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.815|4.815	0.151616|0.151616	0.09185|0.09185	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080|ENST00000487499	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	4.77|4.77	0.0864|0.0864	0.14446|0.14446	.|.	1.011940|.	0.07905|.	N|.	0.973284|.	T|T	0.21841|0.21841	0.0526|0.0526	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.004|.	B;B|.	0.18561|.	0.022;0.006|.	T|T	0.22730|0.22730	-1.0208|-1.0208	10|5	0.17369|.	T|.	0.5|.	-7.0581|-7.0581	1.5665|1.5665	0.02605|0.02605	0.3843:0.3235:0.1292:0.163|0.3843:0.3235:0.1292:0.163	.|.	253;228|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	T|D	253;253;228|259	ENSP00000370173:A253T;ENSP00000424381:A253T;ENSP00000216080:A228T|.	ENSP00000216080:A228T|.	A|G	-|-	1|2	0|0	LMF2|LMF2	49291347|49291347	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.189000|0.189000	0.23516|0.23516	0.424000|0.424000	0.21330|0.21330	-0.065000|-0.065000	0.13021|0.13021	0.650000|0.650000	0.86243|0.86243	GCT|GGC		TCGA-IB-7651-01A-11D-2154-08	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	1	0	1	13	44	0	10	1	1	23	156	0	10	2		0	0	0	0	0	2	1	9.996753e-01	13	42	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999826	0.990000	1	9.900000e-01	1
LMF2	91289	broad.mit.edu	37	22	50945279	50945279	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50945279G>A	ENST00000474879.2	-	2	295	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Silent_p.L94L|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000216080.5_Silent_p.L69L|NCAPH2_ENST00000420993.2_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2			10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)			GGGCTCAGCAGCAGGGCTCCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000474879.2	0	1	hg19	CCDS14093.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	1	0	0	4	68	0	17	1	9.454998e-01	9	87	0	17	2		0	0	0	0	0	2	1	8.890215e-01	4	67	0	17	2								-8.372920	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.740000	0.250000	1.000000	1.000000	0.733025	0.740000	0	4.500000e-01	1
NCAPH2	29781	broad.mit.edu	37	22	50956564	50956564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50956564G>A	ENST00000420993.2	+	7	625	c.503G>A	c.(502-504)cGt>cAt	p.R168H	NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H|NCAPH2_ENST00000395701.3_Missense_Mutation_p.R168H|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2			24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CAGCACAGCCGTCAGGGTGAG	0.627000																								0							SO:0001583	missense			ENST00000420993.2	1	1	hg19	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102033	0.56183	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	5.23	4.22	0.49857	.	0.334684	0.31747	N	0.007121	T	0.48572	0.1507	L	0.43152	1.355	0.27283	N	0.958041	D;D;D;D	0.89917	1.0;0.992;0.993;0.997	P;P;P;P	0.61592	0.891;0.809;0.88;0.754	T	0.39057	-0.9632	9	0.15066	T	0.55	-4.0E-4	12.5423	0.56179	0.0813:0.0:0.9187:0.0	.	168;168;168;168	G3XAG4;Q6IBW4-4;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	H	168;168;168;134;168	.	ENSP00000299821:R168H	R	+	2	0	NCAPH2	49303430	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	2.777000	0.47717	1.217000	0.43442	-0.379000	0.06801	CGT		TCGA-IB-7651-01A-11D-2154-08	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	1	0	0	11	238	0	39	1	8.528649e-01	10	67	0	39	2		0	0	0	0	0	2	1	9.983684e-01	11	236	0	39	2								-12.997800	1	1	121412	1	33	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.560000	0.290000	1.000000	0.510000	0.599929	0.560000	0	4.000000e-01	8.000000e-01
KLHDC7B	113730	broad.mit.edu	37	22	50987929	50987929	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50987929C>A	ENST00000395676.2	+	1	1468	c.1334C>A	c.(1333-1335)gCt>gAt	p.A445D	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B			14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)			GCCCACGAGGCTGTGGCCTGC	0.662000																								0							SO:0001583	missense			ENST00000395676.2	1	1	hg19	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490482	0.84962	.	.	ENSG00000130487	ENST00000395676	T	0.70631	-0.5	5.35	4.31	0.51392	Kelch-type beta propeller (1);	0.000000	0.41294	U	0.000917	D	0.83857	0.5345	M	0.80616	2.505	0.42561	D	0.993145	D	0.89917	1.0	D	0.85130	0.997	D	0.86384	0.1731	10	0.87932	D	0	.	13.6955	0.62578	0.0:0.844:0.156:0.0	.	445	Q96G42	KLD7B_HUMAN	D	445	ENSP00000379034:A445D	ENSP00000379034:A445D	A	+	2	0	KLHDC7B	49334795	1.000000	0.71417	0.885000	0.34714	0.981000	0.71138	4.626000	0.61269	1.234000	0.43709	0.491000	0.48974	GCT		TCGA-IB-7651-01A-11D-2154-08	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	1	0	1	113	523	0	96	1	8.743551e-01	4	15	0	96	2		0	0	0	0	0	2	1	1	110	514	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPT1B	1375	broad.mit.edu	37	22	51009709	51009709	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51009709A>C	ENST00000360719.2	-	15	1890	c.1753T>G	c.(1753-1755)Ttc>Gtc	p.F585V	CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V|CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)			22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GTCAGGCAGAACTTACCCCTG	0.607000													Esophageal Squamous(170;988 1933 25577 30295 48163)											0							SO:0001583	missense			ENST00000360719.2	1	1	hg19	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377009	0.82682	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.82	3.67	0.42095	.	0.048406	0.85682	N	0.000000	D	0.92708	0.7682	M	0.77712	2.385	0.80722	D	1	B;D;D;D	0.89917	0.248;0.979;1.0;1.0	B;D;D;D	0.77004	0.064;0.94;0.989;0.984	D	0.91723	0.5390	10	0.87932	D	0	-29.2963	6.6287	0.22845	0.762:0.1573:0.0807:0.0	.	504;551;380;585	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	585;585;585;551;504;380;585	ENSP00000385486:F585V;ENSP00000312189:F585V;ENSP00000353945:F585V;ENSP00000409342:F551V;ENSP00000414713:F504V;ENSP00000410966:F380V;ENSP00000379011:F585V	ENSP00000312189:F585V	F	-	1	0	CPT1B	49356575	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.868000	0.69605	1.002000	0.39104	0.459000	0.35465	TTC		TCGA-IB-7651-01A-11D-2154-08	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	0	73	229	0	46	1	9.507504e-01	7	11	0	46	2		0	0	0	0	0	2	1	1	69	225	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPT1B	1375	broad.mit.edu	37	22	51011411	51011411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51011411G>A	ENST00000360719.2	-	11	1382	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	CPT1B_ENST00000395650.2_Silent_p.A415A|CPT1B_ENST00000312108.7_Silent_p.A415A|CPT1B_ENST00000440709.1_Intron|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.A212A|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000405237.3_Silent_p.A415A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)			22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CGAAGAAAGCGGCACGCTCGA	0.592000													Esophageal Squamous(170;988 1933 25577 30295 48163)											0							SO:0001819	synonymous_variant			ENST00000360719.2	1	1	hg19	CCDS14098.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	1	130	485	0	119	1	8.279263e-01	7	7	0	119	2		0	0	0	0	0	2	1	1	129	477	0	119	2								-3.480566	1	1	121412	1	30	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPT1B	1375	broad.mit.edu	37	22	51012041	51012041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012041C>A	ENST00000360719.2	-	10	1211	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H|CPT1B_ENST00000440709.1_Intron|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)			22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			TCTCCAGATCCTGAGGCTTGA	0.612000													Esophageal Squamous(170;988 1933 25577 30295 48163)											0							SO:0001583	missense			ENST00000360719.2	1	1	hg19	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245331	0.22796	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;T;T;D	0.89415	-2.51;-2.51;-2.51;-1.37;-1.37;-2.51	5.27	-3.92	0.04155	.	0.547236	0.20178	N	0.097594	T	0.69931	0.3166	N	0.01464	-0.85	0.09310	N	0.999997	B;B;B	0.26775	0.083;0.159;0.159	B;B;B	0.42625	0.043;0.217;0.393	T	0.68021	-0.5519	10	0.14252	T	0.57	-3.961	3.712	0.08423	0.1123:0.1921:0.4703:0.2252	.	324;155;358	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	H	358;358;358;324;155;358	ENSP00000385486:Q358H;ENSP00000312189:Q358H;ENSP00000353945:Q358H;ENSP00000409342:Q324H;ENSP00000410966:Q155H;ENSP00000379011:Q358H	ENSP00000312189:Q358H	Q	-	3	2	CPT1B	49358907	0.000000	0.05858	0.061000	0.19648	0.902000	0.53008	-2.454000	0.01004	-0.741000	0.04797	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	1	57	281	0	55	1	2.732125e-01	2	4	0	55	2		0	0	0	0	0	2	1	1	57	278	0	53	2								-3.178364	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPT1B	1375	broad.mit.edu	37	22	51012062	51012062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012062G>A	ENST00000360719.2	-	10	1190	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CPT1B_ENST00000395650.2_Silent_p.G351G|CPT1B_ENST00000312108.7_Silent_p.G351G|CPT1B_ENST00000440709.1_Silent_p.G351G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.G148G|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000405237.3_Silent_p.G351G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)			22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GCAGACGGGCGCCCTCATAGA	0.612000													Esophageal Squamous(170;988 1933 25577 30295 48163)											0							SO:0001819	synonymous_variant			ENST00000360719.2	1	1	hg19	CCDS14098.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	1	28	249	0	45	1	3.191142e-01	2	9	0	45	2		0	0	0	0	0	2	1	1	28	246	0	45	2								-20.000000	1	0	121404	1	28	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.830000	1.000000	1.000000	0.986844	0.990000	1	9.900000e-01	1
CPT1B	1375	broad.mit.edu	37	22	51014508	51014508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51014508G>A	ENST00000360719.2	-	7	870	c.733C>T	c.(733-735)Cga>Tga	p.R245*	CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	p.R245*(1)		22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CTCCTGCCTCGAAGGTAGATG	0.582000											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Esophageal Squamous(170;988 1933 25577 30295 48163)											1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000360719.2	0	1	hg19	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	36	5.597902	0.96602	0.0	1.16E-4	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	.	.	.	4.81	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4107	9.9502	0.41634	0.0:0.0:0.63:0.37	.	.	.	.	X	245;245;245;211;245;42;245	.	ENSP00000312189:R245X	R	-	1	2	CPT1B	49361374	0.582000	0.26749	0.967000	0.41034	0.997000	0.91878	1.018000	0.30002	1.210000	0.43336	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	1	0	1	75	340	0	81	1	8.379176e-01	5	12	0	81	2		0	0	0	0	0	2	1	1	75	332	0	81	2								-3.401256	1	1	121412	2	36	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPT1B	1375	broad.mit.edu	37	22	51015765	51015765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51015765C>T	ENST00000360719.2	-	3	406	c.269G>A	c.(268-270)tGc>tAc	p.C90Y	CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y|CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)			22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CTGAGGGAGGCATCTCTGGAT	0.617000													Esophageal Squamous(170;988 1933 25577 30295 48163)											0							SO:0001583	missense			ENST00000360719.2	1	1	hg19	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414432	0.01145	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.25	0.368	0.16146	.	0.732438	0.14072	N	0.343293	T	0.32526	0.0832	N	0.00793	-1.18	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40136	-0.9579	10	0.02654	T	1	-2.9602	3.3974	0.07311	0.1851:0.355:0.0:0.4598	.	90;90;90	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	Y	90	ENSP00000385486:C90Y;ENSP00000312189:C90Y;ENSP00000353945:C90Y;ENSP00000409342:C90Y;ENSP00000414713:C90Y;ENSP00000379011:C90Y;ENSP00000406316:C90Y	ENSP00000312189:C90Y	C	-	2	0	CPT1B	49362631	0.000000	0.05858	0.264000	0.24511	0.960000	0.62799	-0.694000	0.05115	0.230000	0.21059	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	0	0	0	11	290	0	58	0	5.976593e-02	0	10	0	58	2		0	0	0	0	0	2	1	9.983237e-01	11	287	0	58	2								-12.016110	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.460000	0.240000	1.000000	0.430000	0.515329	0.460000	0	3.300000e-01	6.700000e-01
MAPK8IP2	23542	broad.mit.edu	37	22	51043397	51043397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51043397G>A	ENST00000399908.2	+	3	1588	c.872G>A	c.(871-873)gGt>gAt	p.G291D	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2			7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CTAGGCGGCGGTCAGGTCTCG	0.672000																								0							SO:0001583	missense			ENST00000399908.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	0.018	-1.485847	0.01018	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T	0.41758	2.31;0.99;1.34;2.31;2.29	4.55	-2.65	0.06095	Src homology-3 domain (1);	1.288170	0.05115	N	0.489545	T	0.23289	0.0563	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15350	-1.0440	9	0.23891	T	0.37	-13.0965	5.0843	0.14673	0.5027:0.2628:0.2345:0.0	.	529;557	E7EQG6;Q13387	.;JIP2_HUMAN	D	291;556;177;291;262	ENSP00000382796:G291D;ENSP00000330572:G556D;ENSP00000340015:G177D;ENSP00000382792:G291D;ENSP00000008876:G262D	ENSP00000008876:G262D	G	+	2	0	MAPK8IP2	49390263	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.607000	0.05648	-0.375000	0.07955	0.462000	0.41574	GGT		TCGA-IB-7651-01A-11D-2154-08	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	0	0	1	54	210	0	27	1	6.396478e-01	3	7	0	27	2		0	0	0	0	0	2	1	1	52	208	0	27	2								-20.000000	1	1	120550	1	25	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARSA	410	broad.mit.edu	37	22	51063696	51063696	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51063696G>A	ENST00000547307.1	-	8	1806	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	ARSA_ENST00000395621.3_Silent_p.D469D|ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000453344.2_Silent_p.D383D|ARSA_ENST00000216124.5_Silent_p.D469D|ARSA_ENST00000610191.1_5'Flank			P15289	ARSA_HUMAN	arylsulfatase A			9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		Micafungin(DB01141)|Suramin(DB04786)	TCACAGCTGCGTCTAACTGGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000547307.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	65	226	0	49	1	1	66	104	0	49	2		0	0	0	0	0	2	1	1	63	221	0	46	2								-20.000000	1	1	121360	7	38	1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHANK3	85358	broad.mit.edu	37	22	51142313	51142313	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51142313G>T	ENST00000414786.2	+	13	1823	c.1596G>T	c.(1594-1596)cgG>cgT	p.R532R	SHANK3_ENST00000262795.3_Silent_p.R562R|SHANK3_ENST00000445220.2_Silent_p.R547R			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3			8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)			GGACGAAGCGGCTCTTTCGGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000414786.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	1	0	1	10	56	0	20	1	9.690244e-01	8	29	0	20	2		0	0	0	0	0	2	1	9.969828e-01	8	55	0	18	2								-18.260800	1	0	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.920000	1.000000	1.000000	0.994875	0.990000	1	9.900000e-01	1
ACR	49	broad.mit.edu	37	22	51182561	51182561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51182561A>C	ENST00000216139.5	+	4	678	c.638A>C	c.(637-639)cAg>cCg	p.Q213P	AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin			7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			AACTCGACCCAGTGGTACAAT	0.567000																								0							SO:0001583	missense			ENST00000216139.5	1	1	hg19	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	15.78	2.933640	0.52866	.	.	ENSG00000100312	ENST00000216139	T	0.59083	0.29	4.48	0.716	0.18191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.999557	0.08091	N	0.999345	T	0.57504	0.2058	N	0.25380	0.74	0.09310	N	1	D	0.57571	0.98	P	0.61070	0.883	T	0.48736	-0.9009	10	0.39692	T	0.17	-2.5812	7.2849	0.26333	0.6744:0.0:0.3256:0.0	.	213	P10323	ACRO_HUMAN	P	213	ENSP00000216139:Q213P	ENSP00000216139:Q213P	Q	+	2	0	ACR	49529427	0.000000	0.05858	0.025000	0.17156	0.985000	0.73830	-0.661000	0.05311	-0.081000	0.12662	0.370000	0.22315	CAG		TCGA-IB-7651-01A-11D-2154-08	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	1	0	1	78	596	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1	76	586	0	149	2								-20.000000	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.990000	1.000000	1.000000	0.999924	0.990000	1	9.900000e-01	1
RABL2B	11158	broad.mit.edu	37	22	51208393	51208393	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51208393T>C	ENST00000395598.3	-	6	560	c.349A>G	c.(349-351)Aca>Gca	p.T117A	RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395595.3_Missense_Mutation_p.T117A|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B			1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			CGAAGCTCTGTATACCAGGTG	0.498000													GBM(148;358 1894 4987 13698 40400)											0							SO:0001583	missense			ENST00000395598.3	1	1	hg19	CCDS14102.1	.	.	.	.	.	.	.	.	.	.	T	0.071	-1.202051	0.01581	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395595	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.9	-5.15	0.02866	Small GTP-binding protein domain (1);	0.643224	0.16329	N	0.219208	T	0.50000	0.1590	N	0.12611	0.24	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.001;0.006;0.003	T	0.29243	-1.0018	10	0.48119	T	0.1	-0.5868	2.8444	0.05539	0.1304:0.1695:0.1294:0.5707	.	117;117;117	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	A	117	ENSP00000401906:T117A;ENSP00000346940:T117A;ENSP00000378958:T117A;ENSP00000378962:T117A;ENSP00000378960:T117A	ENSP00000346940:T117A	T	-	1	0	RABL2B	49555259	0.825000	0.29262	0.007000	0.13788	0.033000	0.12548	0.870000	0.28010	-0.604000	0.05760	-0.467000	0.05162	ACA		TCGA-IB-7651-01A-11D-2154-08	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316606.1	1	0	0	30	316	0	71	1	7.480512e-01	3	27	0	71	2		0	0	0	0	0	2	1	1	26	272	0	121	2								-10.220240	1	1	0	0		1	1	2	3	2.015224	0	0.170000	2.060000	1.783805e-01	0.990000	0.720000	1.000000	1.000000	0.954728	0.990000	1	8.700000e-01	1
EIF5B	9669	broad.mit.edu	37	2	100011029	100011029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100011029A>G	ENST00000289371.6	+	20	3272	c.3070A>G	c.(3070-3072)Atg>Gtg	p.M1024V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B			31					GGCTTCAGTGATGTTGGAACA	0.368000													Colon(162;2388 2567 2705 3444)											0							SO:0001583	missense			ENST00000289371.6	1	1	hg19	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247902	0.80024	.	.	ENSG00000158417	ENST00000289371	T	0.40476	1.03	5.68	5.68	0.88126	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.59473	0.2196	L	0.58302	1.8	0.80722	D	1	D	0.61080	0.989	D	0.65684	0.937	T	0.57866	-0.7737	8	.	.	.	-26.622	15.9398	0.79745	1.0:0.0:0.0:0.0	.	1024	O60841	IF2P_HUMAN	V	1024	ENSP00000289371:M1024V	.	M	+	1	0	EIF5B	99377461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.099000	0.94207	2.152000	0.67230	0.523000	0.50628	ATG		TCGA-IB-7651-01A-11D-2154-08	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	1	0	1	275	800	0	189	1	1	147	227	0	189	2		0	0	0	0	0	2	1	1	269	787	0	188	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REV1	51455	broad.mit.edu	37	2	100029261	100029261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100029261G>A	ENST00000258428.3	-	13	2332	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P701S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)			39					GTTCGAACTGGTCTATCATCC	0.403000								Direct reversal of damage																0							SO:0001583	missense			ENST00000258428.3	1	1	hg19	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023083	0.93462	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.982;0.999	P;D	0.72075	0.824;0.976	T	0.53365	-0.8449	10	0.32370	T	0.25	.	19.3712	0.94488	0.0:0.0:1.0:0.0	.	702;701	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	S	701;702	ENSP00000377091:P701S;ENSP00000258428:P702S	ENSP00000258428:P702S	P	-	1	0	REV1	99395693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.035000	0.93752	2.563000	0.86464	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	1	0	1	122	368	0	83	1	9.999995e-01	26	39	0	83	2		0	0	0	0	0	2	1	1	117	361	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF3	3899	broad.mit.edu	37	2	100209827	100209827	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100209827G>T	ENST00000409236.2	-	13	2408	c.2296C>A	c.(2296-2298)Ctc>Atc	p.L766I	AFF3_ENST00000356421.2_Missense_Mutation_p.L791I|AFF3_ENST00000409579.1_Missense_Mutation_p.L791I|AFF3_ENST00000317233.4_Missense_Mutation_p.L766I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3			86					TTGACCCAGAGAGACCTGATC	0.577000																								0							SO:0001583	missense			ENST00000409236.2	1	1	hg19	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245767	0.80024	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.5	5.5	0.81552	.	0.211909	0.32578	N	0.005904	D	0.90068	0.6898	M	0.87180	2.865	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.993;0.999;0.96	D	0.90986	0.4831	10	0.62326	D	0.03	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	919;766;791	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	I	766;791;791;766;766;919	ENSP00000317421:L766I;ENSP00000348793:L791I;ENSP00000386834:L791I;ENSP00000387207:L766I	ENSP00000317421:L766I	L	-	1	0	AFF3	99576259	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.829000	0.75314	2.596000	0.87737	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1	56	302	0	55	0	2.529805e-02	0	2	0	55	2		0	0	0	0	0	2	1	1	56	296	0	55	2								-3.230427	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF3	3899	broad.mit.edu	37	2	100210030	100210030	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210030G>A	ENST00000409236.2	-	13	2205	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	AFF3_ENST00000356421.2_Missense_Mutation_p.A723V|AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000317233.4_Missense_Mutation_p.A698V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3			86					GGAGGCAGAGGCAGCCACGGT	0.617000																								0							SO:0001583	missense			ENST00000409236.2	1	1	hg19	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611297	0.14066	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	3.87	3.87	0.44632	.	1.118960	0.06955	N	0.815285	T	0.51075	0.1653	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30851	0.297;0.017;0.069	B;B;B	0.32342	0.144;0.026;0.025	T	0.38134	-0.9675	10	0.25106	T	0.35	.	12.7151	0.57111	0.0:0.0:1.0:0.0	.	851;698;723	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	698;723;723;698;698;851;723	ENSP00000317421:A698V;ENSP00000348793:A723V;ENSP00000386834:A723V;ENSP00000387207:A698V	ENSP00000317421:A698V	A	-	2	0	AFF3	99576462	0.219000	0.23619	0.002000	0.10522	0.221000	0.24807	3.346000	0.52190	1.672000	0.50884	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1	159	451	0	114	0	3.912241e-01	0	5	0	114	2		0	0	0	0	0	2	1	1	157	445	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF3	3899	broad.mit.edu	37	2	100210308	100210308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210308G>A	ENST00000409236.2	-	13	1927	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	AFF3_ENST00000356421.2_Silent_p.P630P|AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000317233.4_Silent_p.P605P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3			86					CGGGCTCCTCGGGCCGGTGGC	0.751000																								0							SO:0001819	synonymous_variant			ENST00000409236.2	1	1	hg19	CCDS42723.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	0	56	133	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1	56	129	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF3	3899	broad.mit.edu	37	2	100266103	100266103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100266103C>T	ENST00000409236.2	-	11	1281	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	AFF3_ENST00000356421.2_Missense_Mutation_p.R415H|AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000317233.4_Missense_Mutation_p.R390H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3			86					AGAGAGAGCGCGGAGAGCCGT	0.363000																								0							SO:0001583	missense			ENST00000409236.2	1	1	hg19	CCDS42723.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.31	2.198071	0.38806	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	6.07	3.05	0.35203	.	0.160493	0.29594	N	0.011704	T	0.53916	0.1826	L	0.36672	1.1	0.31696	N	0.641262	B;B;B	0.19583	0.037;0.004;0.003	B;B;B	0.15052	0.012;0.005;0.002	T	0.51482	-0.8700	10	0.41790	T	0.15	.	3.4607	0.07532	0.2012:0.5685:0.0:0.2302	.	543;390;415	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	H	390;415;415;390;390;543;415	ENSP00000317421:R390H;ENSP00000348793:R415H;ENSP00000386834:R415H;ENSP00000387207:R390H	ENSP00000317421:R390H	R	-	2	0	AFF3	99632535	0.918000	0.31147	0.991000	0.47740	0.900000	0.52787	1.550000	0.36223	0.319000	0.23209	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1	92	446	0	89	0	1.403661e-01	0	4	0	89	2		0	0	0	0	0	2	1	1	92	437	0	89	2								-20.000000	1	1	121412	3	39	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF1B	9014	broad.mit.edu	37	2	10045080	10045080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10045080C>A	ENST00000263663.5	+	9	1088	c.900C>A	c.(898-900)tgC>tgA	p.C300*	TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa			14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CTGAAGACTGCTATCTTCATC	0.388000																								0							SO:0001587	stop_gained			ENST00000263663.5	0	1	hg19	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576971	0.97676	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	.	.	.	5.67	4.69	0.59074	.	0.183950	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1512	9.6841	0.40087	0.0:0.8161:0.0:0.1839	.	.	.	.	X	300;45	.	.	C	+	3	2	TAF1B	9962531	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.293000	0.33353	2.673000	0.90976	0.467000	0.42956	TGC		TCGA-IB-7651-01A-11D-2154-08	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	1	0	1	86	399	0	101	1	9.910274e-01	3	33	0	101	2		0	0	0	0	0	2	1	1	84	393	0	101	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF3	3899	broad.mit.edu	37	2	100453987	100453987	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100453987C>A	ENST00000409236.2	-	6	986		c.e6-1		AFF3_ENST00000356421.2_Splice_Site|AFF3_ENST00000409579.1_Splice_Site|AFF3_ENST00000317233.4_Splice_Site			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3			86					ATCTACTCTCCTGAAAGCAAA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000409236.2	1	1	hg19	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561482	0.65538	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.787	0.57512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFF3	99820419	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.194000	0.58393	2.450000	0.82876	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	0	23	309	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.999993e-01	23	303	0	48	2								-3.075794	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.890000	0.580000	1.000000	1.000000	0.871966	0.890000	1	7.200000e-01	1
TAF1B	9014	broad.mit.edu	37	2	10051681	10051681	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10051681A>G	ENST00000263663.5	+	11	1363	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa			14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GAAAAGAACAAAAAAGGTATT	0.249000																								0							SO:0001583	missense			ENST00000263663.5	1	1	hg19	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851969	0.32699	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.15017	2.65;2.46	4.94	3.73	0.42828	.	0.556803	0.20552	N	0.090085	T	0.13884	0.0336	L	0.41824	1.3	0.29256	N	0.871621	B;B	0.18461	0.028;0.011	B;B	0.16289	0.01;0.015	T	0.13872	-1.0493	9	.	.	.	-6.2759	10.5333	0.44990	0.9209:0.0:0.0791:0.0	.	392;392	Q53T94;Q53T94-2	TAF1B_HUMAN;.	R	392;137	ENSP00000263663:K392R;ENSP00000379542:K137R	.	K	+	2	0	TAF1B	9969132	1.000000	0.71417	0.509000	0.27700	0.952000	0.60782	1.432000	0.34936	0.684000	0.31448	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	1	0	1	22	115	0	30	1	9.957320e-01	3	46	0	30	2		0	0	0	0	0	2	1	9.999992e-01	22	113	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
AFF3	3899	broad.mit.edu	37	2	100623808	100623808	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100623808T>C	ENST00000409236.2	-	4	401	c.289A>G	c.(289-291)Aaa>Gaa	p.K97E	AFF3_ENST00000356421.2_Missense_Mutation_p.K122E|AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000317233.4_Missense_Mutation_p.K97E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3			86					ACCCCAGGTTTGGGAACTCCA	0.438000																								0							SO:0001583	missense			ENST00000409236.2	1	1	hg19	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264756	0.80358	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.21	5.21	0.72293	.	0.065008	0.64402	D	0.000017	T	0.71651	0.3365	L	0.28115	0.83	0.31583	N	0.654829	D;D;D;D;D	0.76494	0.998;0.998;0.999;0.994;0.988	D;D;D;D;P	0.81914	0.965;0.941;0.995;0.926;0.852	T	0.74441	-0.3664	10	0.40728	T	0.16	.	15.3723	0.74573	0.0:0.0:0.0:1.0	.	251;251;97;97;122	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	E	97;122;122;97;97;251;122;97;97;97;97;97	ENSP00000317421:K97E;ENSP00000348793:K122E;ENSP00000386834:K122E;ENSP00000387207:K97E;ENSP00000406484:K97E;ENSP00000396582:K97E;ENSP00000399795:K97E;ENSP00000411383:K97E;ENSP00000395068:K97E	ENSP00000317421:K97E	K	-	1	0	AFF3	99990240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.043000	0.49823	2.085000	0.62840	0.477000	0.44152	AAA		TCGA-IB-7651-01A-11D-2154-08	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	1	0	1	125	368	0	78	0	2.698140e-01	0	4	0	78	2		0	0	0	0	0	2	1	1	121	361	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF1B	9014	broad.mit.edu	37	2	10073915	10073915	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10073915T>C	ENST00000263663.5	+	15	1757	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	RP11-95D17.1_ENST00000602458.1_lincRNA|TAF1B_ENST00000396242.3_Silent_p.Y268Y	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa			14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CTTCTAGCTATTGTACACATG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000263663.5	1	1	hg19	CCDS33143.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	1	0	1	71	195	0	47	1	9.999914e-01	18	33	0	47	2		0	0	0	0	0	2	1	1	69	191	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LONRF2	164832	broad.mit.edu	37	2	100903511	100903511	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100903511C>A	ENST00000393437.3	-	11	2574	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2			34					GTTCTTCATACTCTGGACCCT	0.488000																								0							SO:0001583	missense			ENST00000393437.3	1	1	hg19	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232343	0.09969	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86562	-1.99;-2.14	4.95	1.78	0.24846	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.356504	0.31031	N	0.008395	T	0.77916	0.4202	L	0.35288	1.05	0.34150	D	0.667401	B	0.22541	0.071	B	0.29785	0.107	T	0.69030	-0.5253	10	0.14656	T	0.56	-6.4393	8.2426	0.31669	0.0:0.5979:0.1406:0.2615	.	645	Q1L5Z9	LONF2_HUMAN	D	645;402	ENSP00000377086:E645D;ENSP00000386823:E402D	ENSP00000377086:E645D	E	-	3	2	LONRF2	100269943	0.230000	0.23740	0.173000	0.22940	0.351000	0.29236	-0.455000	0.06762	0.390000	0.25115	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	1	0	1	49	167	0	37	1	8.273353e-01	6	7	0	37	2		0	0	0	0	0	2	1	1	48	160	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST10	9486	broad.mit.edu	37	2	101010006	101010006	+	Missense_Mutation	SNP	C	C	T	rs3748932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101010006C>T	ENST00000264249.3	-	7	1157	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CHST10_ENST00000542617.1_Missense_Mutation_p.D306N|CHST10_ENST00000409701.1_Missense_Mutation_p.D258N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10			16					ATGATGTGGTCCCCAAACTGA	0.547000																								0							SO:0001583	missense			ENST00000264249.3	1	1	hg19	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	36	5.781912	0.96929	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	6.06	0.98353	.	0.084712	0.85682	D	0.000000	T	0.70859	0.3272	L	0.37750	1.13	0.80722	D	1	P	0.43231	0.801	B	0.43225	0.412	T	0.65668	-0.6112	10	0.23302	T	0.38	-38.744	20.6208	0.99490	0.0:1.0:0.0:0.0	rs3748932;rs3748932	258	O43529	CHSTA_HUMAN	N	258;306;258	ENSP00000264249:D258N;ENSP00000438869:D306N;ENSP00000387309:D258N	ENSP00000264249:D258N	D	-	1	0	CHST10	100376438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	1	0	1	154	814	0	149	1	9.712847e-01	5	27	0	149	2		0	0	0	0	0	2	1	1	153	804	0	147	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRHL1	29841	broad.mit.edu	37	2	10101440	10101440	+	Missense_Mutation	SNP	C	C	T	rs141487705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10101440C>T	ENST00000324907.9	+	4	680	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GRHL1_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)			17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GCCCACTGAGCGGGTGGTGGT	0.542000																								0							SO:0001583	missense			ENST00000324907.9	1	1	hg19	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181082	0.78677	0.0	1.16E-4	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.13420	2.59;2.6	5.5	5.5	0.81552	.	0.100619	0.64402	D	0.000002	T	0.24470	0.0593	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.52343	0.696	T	0.00287	-1.1846	10	0.39692	T	0.17	.	14.258	0.66065	0.1489:0.8511:0.0:0.0	.	182	Q9NZI5	GRHL1_HUMAN	W	182	ENSP00000384209:R182W;ENSP00000324693:R182W	ENSP00000324693:R182W	R	+	1	2	GRHL1	10018891	1.000000	0.71417	0.902000	0.35471	0.942000	0.58702	4.218000	0.58554	2.594000	0.87642	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	1	0	1	115	572	0	110	1	7.747034e-01	3	13	0	110	2		0	0	0	0	0	2	1	1	115	564	0	110	2								-3.325837	1	1	121412	1	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDCL3	79031	broad.mit.edu	37	2	101186141	101186141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101186141C>T	ENST00000264254.6	+	4	704	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3			12					GTTACCAAAGCTGGCGAGGGC	0.428000																								0							SO:0001583	missense			ENST00000264254.6	1	1	hg19	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	28.1	4.892454	0.91889	.	.	ENSG00000115539	ENST00000264254;ENST00000416255	T;T	0.42513	0.97;0.97	4.77	4.77	0.60923	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.87547	2.89	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.74639	-0.3598	10	0.72032	D	0.01	-21.0203	18.1468	0.89659	0.0:1.0:0.0:0.0	.	109	Q9H2J4	PDCL3_HUMAN	V	109;59	ENSP00000264254:A109V;ENSP00000413936:A59V	ENSP00000264254:A109V	A	+	2	0	PDCL3	100552573	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	7.469000	0.80959	2.347000	0.79759	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	1	0	1	42	509	0	107	1	9.996122e-01	17	124	0	107	2		0	0	0	0	0	2	1	1	42	496	0	110	2								-10.777600	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.970000	0.710000	1.000000	1.000000	0.935195	0.970000	1	8.300000e-01	1
NPAS2	4862	broad.mit.edu	37	2	101584767	101584767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101584767C>T	ENST00000335681.5	+	11	1217	c.932C>T	c.(931-933)tCg>tTg	p.S311L	NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2			29					AAAGGGAAGTCGTGTTGCTAC	0.443000																								0							SO:0001583	missense			ENST00000335681.5	1	1	hg19	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599798	0.96614	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.24538	1.85;1.85	5.76	5.76	0.90799	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45716	-0.9242	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	376;311	F5H027;Q99743	.;NPAS2_HUMAN	L	311;376	ENSP00000338283:S311L;ENSP00000438428:S376L	ENSP00000338283:S311L	S	+	2	0	NPAS2	100951199	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.886000	0.69743	2.882000	0.98803	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3	1	0	1	96	423	0	73	1	1	48	73	0	73	2		0	0	0	0	0	2	1	1	96	416	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPAS2	4862	broad.mit.edu	37	2	101587499	101587499	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101587499A>G	ENST00000335681.5	+	12	1388	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2			29					GCTCTGGAAGACCCGCCATCC	0.557000																								0							SO:0001583	missense			ENST00000335681.5	1	1	hg19	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468956	0.84533	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05447	3.46;3.44	5.85	4.63	0.57726	.	0.146336	0.64402	D	0.000013	T	0.11452	0.0279	L	0.59436	1.845	0.46298	D	0.998977	P;P	0.48640	0.913;0.858	P;B	0.47044	0.535;0.334	T	0.01108	-1.1449	10	0.54805	T	0.06	.	11.9491	0.52944	0.87:0.0:0.0:0.13	.	433;368	F5H027;Q99743	.;NPAS2_HUMAN	G	368;433	ENSP00000338283:D368G;ENSP00000438428:D433G	ENSP00000338283:D368G	D	+	2	0	NPAS2	100953931	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.884000	0.63135	2.233000	0.73108	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3	1	0	1	111	314	0	60	1	1	69	80	0	60	2		0	0	0	0	0	2	1	1	105	305	0	60	2								-5.401221	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPAS2	4862	broad.mit.edu	37	2	101606760	101606760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101606760G>T	ENST00000335681.5	+	18	2155	c.1870G>T	c.(1870-1872)Ggc>Tgc	p.G624C	NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2			29					GCAGAGCAGCGGCCGCTCTGG	0.572000																								0							SO:0001583	missense			ENST00000335681.5	1	1	hg19	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.160|8.160	0.789285|0.789285	0.16258|0.16258	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000433408	T;T|.	0.05025|.	3.53;3.51|.	4.66|4.66	-0.419|-0.419	0.12340|0.12340	.|.	1.028670|.	0.07683|.	N|.	0.937489|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;D|.	0.76494|.	0.999;0.993|.	P;P|.	0.60415|.	0.874;0.672|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|5	0.38643|.	T|.	0.18|.	.|.	5.7997|5.7997	0.18408|0.18408	0.331:0.0:0.5374:0.1316|0.331:0.0:0.5374:0.1316	.|.	689;624|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	C|L	624;689|122	ENSP00000338283:G624C;ENSP00000438428:G689C|.	ENSP00000338283:G624C|.	G|R	+|+	1|2	0|0	NPAS2|NPAS2	100973192|100973192	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.028000|0.028000	0.11728|0.11728	-1.072000|-1.072000	0.03434|0.03434	-0.092000|-0.092000	0.12417|0.12417	-0.463000|-0.463000	0.05309|0.05309	GGC|CGG		TCGA-IB-7651-01A-11D-2154-08	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3	0	0	1	124	427	0	105	1	1	50	38	0	105	2		0	0	0	0	0	2	1	1	120	417	0	103	2								-4.387011	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D8	11138	broad.mit.edu	37	2	101624596	101624596	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624596G>T	ENST00000376840.4	-	20	3109	c.3110C>A	c.(3109-3111)tCt>tAt	p.S1037Y	RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.S1052Y			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)			32					GCAGCTTCCAGAGCTGCTGCC	0.582000																								0							SO:0001583	missense			ENST00000376840.4	1	1	hg19	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465430	0.63513	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03301	3.98;3.98	5.33	5.33	0.75918	.	0.128230	0.37136	N	0.002237	T	0.05410	0.0143	L	0.40543	1.245	0.32090	N	0.591968	P	0.49090	0.919	P	0.49708	0.62	T	0.01715	-1.1289	10	0.05351	T	0.99	-16.2886	12.818	0.57677	0.0849:0.0:0.9151:0.0	.	1037	O95759	TBCD8_HUMAN	Y	1037;1052	ENSP00000366036:S1037Y;ENSP00000386856:S1052Y	ENSP00000366036:S1037Y	S	-	2	0	TBC1D8	100991028	0.982000	0.34865	0.946000	0.38457	0.902000	0.53008	1.889000	0.39718	2.454000	0.82982	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	1	0	1	58	148	0	27	1	1	80	104	0	27	2		0	0	0	0	0	2	1	1	56	144	0	27	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D8	11138	broad.mit.edu	37	2	101624689	101624689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624689T>C	ENST00000376840.4	-	20	3016	c.3017A>G	c.(3016-3018)gAa>gGa	p.E1006G	RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.E1021G			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)			32					TTCTGGATCTTCATGGAACAT	0.468000																								0							SO:0001583	missense			ENST00000376840.4	1	1	hg19	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676379	0.29783	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03358	3.97;3.96	5.29	5.29	0.74685	.	0.090866	0.47455	D	0.000223	T	0.03477	0.0100	L	0.31804	0.96	0.23809	N	0.996785	B	0.06786	0.001	B	0.08055	0.003	T	0.39375	-0.9617	10	0.31617	T	0.26	-12.8241	9.7618	0.40537	0.0:0.0771:0.0:0.9229	.	1006	O95759	TBCD8_HUMAN	G	1006;1021	ENSP00000366036:E1006G;ENSP00000386856:E1021G	ENSP00000366036:E1006G	E	-	2	0	TBC1D8	100991121	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	2.879000	0.48522	1.984000	0.57885	0.529000	0.55759	GAA		TCGA-IB-7651-01A-11D-2154-08	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	1	0	1	43	108	0	25	1	1	95	127	0	25	2		0	0	0	0	0	2	1	1	42	107	0	25	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF149	284996	broad.mit.edu	37	2	101905443	101905443	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101905443C>T	ENST00000295317.3	-	4	962	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149			12					ACTTGCATGGCAGAATTCTAA	0.279000													Colon(25;331 612 6521 7355 31028)											0							SO:0001819	synonymous_variant			ENST00000295317.3	1	1	hg19	CCDS2051.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	1	0	0	13	189	0	62	1	9.999912e-01	22	313	0	62	2		0	0	0	0	0	2	1	9.995590e-01	13	187	0	62	2								-5.769375	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.830000	0.470000	1.000000	1.000000	0.822755	0.830000	0	6.300000e-01	1
KLF11	8462	broad.mit.edu	37	2	10192541	10192541	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10192541C>A	ENST00000305883.1	+	4	1608	c.1446C>A	c.(1444-1446)atC>atA	p.I482I	KLF11_ENST00000535335.1_Silent_p.I465I|RP11-254F7.3_ENST00000607181.1_RNA|KLF11_ENST00000540845.1_Silent_p.I465I	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11			16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CCAAGAAGATCCCAGGCTGGC	0.612000													Melanoma(56;431 1507 23687 50789)											0							SO:0001819	synonymous_variant			ENST00000305883.1	1	1	hg19	CCDS1668.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	1	0	1	73	209	0	47	1	1	22	64	0	47	2		0	0	0	0	0	2	1	1	73	206	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL1R2	7850	broad.mit.edu	37	2	102641091	102641091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102641091G>A	ENST00000332549.3	+	7	1077	c.848G>A	c.(847-849)aGc>aAc	p.S283N	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N|IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II			28					CACATAGAGAGCGCCTACCCG	0.582000													Pancreas(106;189 1628 2302 5133 12295)											0							SO:0001583	missense			ENST00000332549.3	1	1	hg19	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726765	0.15439	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.22945	1.93;1.93;1.93	5.86	-11.7	0.00046	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.387270	0.00966	N	0.003179	T	0.05410	0.0143	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	10	0.16420	T	0.52	.	1.5337	0.02541	0.3941:0.2197:0.0787:0.3074	.	283	P27930	IL1R2_HUMAN	N	283	ENSP00000330959:S283N;ENSP00000377066:S283N;ENSP00000414611:S283N	ENSP00000330959:S283N	S	+	2	0	IL1R2	102007523	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.162000	0.01277	-3.249000	0.00205	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	1	0	1	61	325	0	53	0	9.861633e-01	0	38	0	53	2		0	0	0	0	0	2	1	1	61	320	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL1RL2	8808	broad.mit.edu	37	2	102818144	102818144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102818144C>T	ENST00000264257.2	+	5	744	c.618C>T	c.(616-618)taC>taT	p.Y206Y	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.Y89Y|IL1RL2_ENST00000539491.1_Silent_p.Y206Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2			26					GGAAGCAGTACGAGGTTTTAA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000264257.2	1	1	hg19	CCDS2056.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	1	0	1	34	188	0	34	0	1.779502e-01	0	5	0	34	2		0	0	0	0	0	2	1	1	33	183	0	34	2								-20.000000	1	1	121400	5	33	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
IL18R1	8809	broad.mit.edu	37	2	103013310	103013310	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103013310C>T	ENST00000409599.1	+	12	1946	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	IL18R1_ENST00000233957.1_Silent_p.D530D			Q13478	IL18R_HUMAN	interleukin 18 receptor 1			34					CAGGTAGAGACGAACCGGAAG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000409599.1	1	1	hg19	CCDS2060.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	1	0	0	15	331	0	59	0	1.205224e-01	0	13	0	59	2		0	0	0	0	0	2	1	9.998628e-01	15	325	0	59	2								-16.140250	1	1	121406	3	36	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.560000	0.320000	0.860000	0.540000	0.581017	0.560000	0	4.300000e-01	7.200000e-01
IL18RAP	8807	broad.mit.edu	37	2	103068334	103068334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103068334T>C	ENST00000264260.2	+	12	2082	c.1493T>C	c.(1492-1494)gTg>gCg	p.V498A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V356A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein			37					CAAGCAGCAGTGAATCTTGCC	0.393000																								0							SO:0001583	missense			ENST00000264260.2	1	1	hg19	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969215	0.74246	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09445	2.98;2.98	6.02	4.86	0.63082	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.097526	0.44688	N	0.000424	T	0.30947	0.0781	M	0.82056	2.57	0.34843	D	0.740879	D	0.64830	0.994	P	0.62298	0.9	T	0.49986	-0.8880	10	0.62326	D	0.03	.	11.8534	0.52423	0.0:0.0677:0.0:0.9323	.	498	O95256	I18RA_HUMAN	A	498;356	ENSP00000264260:V498A;ENSP00000387201:V356A	ENSP00000264260:V498A	V	+	2	0	IL18RAP	102434766	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.227000	0.58612	1.105000	0.41606	0.528000	0.53228	GTG		TCGA-IB-7651-01A-11D-2154-08	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	1	0	1	105	467	0	82	0	3.436449e-02	0	2	0	82	2		0	0	0	0	0	2	1	1	101	459	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC9A4	389015	broad.mit.edu	37	2	103095444	103095444	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103095444C>A	ENST00000295269.4	+	2	860	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4			43					CCTGTATCTCCTGCCACCCAT	0.612000																								0							SO:0001583	missense			ENST00000295269.4	1	1	hg19	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111165	0.77210	.	.	ENSG00000180251	ENST00000295269	T	0.25912	1.77	5.92	5.92	0.95590	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	H	0.94808	3.585	0.54753	D	0.999989	D	0.89917	1.0	D	0.83275	0.996	T	0.72187	-0.4366	10	0.87932	D	0	.	14.4691	0.67504	0.0:0.9302:0.0:0.0698	.	135	Q6AI14	SL9A4_HUMAN	M	135	ENSP00000295269:L135M	ENSP00000295269:L135M	L	+	1	2	SLC9A4	102461876	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	3.996000	0.57009	2.804000	0.96469	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	0	0	0	13	469	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.995051e-01	12	465	0	77	2								-3.704707	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.350000	0.190000	0.560000	0.340000	0.366736	0.350000	0	2.600000e-01	4.600000e-01
SLC9A4	389015	broad.mit.edu	37	2	103141507	103141507	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103141507C>A	ENST00000295269.4	+	10	2300	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4			43					CAAATACAACCTCAAACCCCA	0.488000																								0							SO:0001583	missense			ENST00000295269.4	1	1	hg19	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488560	0.44249	.	.	ENSG00000180251	ENST00000295269	T	0.47528	0.84	5.84	4.03	0.46877	.	0.268148	0.37530	N	0.002059	T	0.64238	0.2580	M	0.75264	2.295	0.32570	N	0.529854	D	0.63046	0.992	D	0.63703	0.917	T	0.74355	-0.3692	10	0.54805	T	0.06	.	12.1068	0.53818	0.0:0.8556:0.0:0.1444	.	615	Q6AI14	SL9A4_HUMAN	I	615	ENSP00000295269:L615I	ENSP00000295269:L615I	L	+	1	0	SLC9A4	102507939	1.000000	0.71417	0.956000	0.39512	0.001000	0.01503	3.026000	0.49689	1.481000	0.48307	-0.152000	0.13540	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	1	0	1	348	1062	0	255		0	0	0	0	255	2		0	0	0	0	0	2	1	1	345	1042	0	254	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC9A2	6549	broad.mit.edu	37	2	103300642	103300642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103300642G>A	ENST00000233969.2	+	5	1414	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2			42					CCATTCCCCTGACCTTTAAGG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000233969.2	1	1	hg19	CCDS2062.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2	1	0	0	51	516	0	91	0	0	0	1	0	91	2		0	0	0	0	0	2	1	1	51	505	0	89	2								-14.663730	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.989695	0.990000	1	9.900000e-01	1
MFSD9	84804	broad.mit.edu	37	2	103353247	103353247	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103353247T>C	ENST00000258436.5	-	1	66	c.23A>G	c.(22-24)gAc>gGc	p.D8G	TMEM182_ENST00000409528.1_5'Flank|TMEM182_ENST00000409173.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9			20					CGAGTTCATGTCCCAGTGACC	0.721000																								0							SO:0001583	missense			ENST00000258436.5	1	1	hg19	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235011	0.05983	.	.	ENSG00000135953	ENST00000258436	T	0.64991	-0.13	4.24	-4.59	0.03400	.	1.454500	0.04609	N	0.399982	T	0.30135	0.0755	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.08381	T	0.77	-4.4032	3.5159	0.07725	0.4053:0.2354:0.0:0.3594	.	8	Q8NBP5	MFSD9_HUMAN	G	8	ENSP00000258436:D8G	ENSP00000258436:D8G	D	-	2	0	MFSD9	102719679	0.312000	0.24545	0.000000	0.03702	0.002000	0.02628	0.000000	0.12993	-0.778000	0.04566	-1.589000	0.00846	GAC		TCGA-IB-7651-01A-11D-2154-08	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	1	0	0	28	292	0	40	1	7.680055e-01	3	28	0	40	2		0	0	0	0	0	2	1	1	27	290	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.760000	1.000000	1.000000	0.972967	0.990000	1	9.300000e-01	1
TMEM182	130827	broad.mit.edu	37	2	103378707	103378707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103378707G>T	ENST00000412401.2	+	1	236	c.31G>T	c.(31-33)Gct>Tct	p.A11S	TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182			11					CTTCTTTGGAGCTCTCTTTGG	0.368000																								0							SO:0001583	missense			ENST00000412401.2	0	1	hg19	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314998	0.81358	.	.	ENSG00000170417	ENST00000412401	T	0.55413	0.52	6.02	6.02	0.97574	.	0.045126	0.85682	D	0.000000	T	0.38878	0.1057	N	0.22421	0.69	0.30613	N	0.759332	P	0.37781	0.608	B	0.29862	0.108	T	0.51679	-0.8675	10	0.66056	D	0.02	-15.8891	16.7888	0.85582	0.0:0.0:0.8707:0.1293	.	11	Q6ZP80	TM182_HUMAN	S	11	ENSP00000394178:A11S	ENSP00000394178:A11S	A	+	1	0	TMEM182	102745139	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	4.570000	0.60872	2.865000	0.98341	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	0	0	0	77	330	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	76	322	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM182	130827	broad.mit.edu	37	2	103414328	103414328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103414328G>A	ENST00000412401.2	+	4	543	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182			11					CCAGTTTACCGTGGTTTCTGG	0.463000																								0							SO:0001583	missense			ENST00000412401.2	1	1	hg19	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032092	0.93575	4.54E-4	1.16E-4	ENSG00000170417	ENST00000454536;ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.69040	-0.37;-0.37;-0.37	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83688	0.0175	10	0.87932	D	0	-17.6232	19.1731	0.93588	0.0:0.0:1.0:0.0	.	113;70	Q6ZP80;B8ZZ71	TM182_HUMAN;.	H	70;17;70;113	ENSP00000387258:R17H;ENSP00000387184:R70H;ENSP00000394178:R113H	ENSP00000387184:R70H	R	+	2	0	TMEM182	102780760	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	8.939000	0.92951	2.613000	0.88420	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	1	0	1	136	358	0	81	1	9.990196e-01	15	15	0	81	2		0	0	0	0	0	2	1	1	131	352	0	81	2								-20.000000	1	1	121412	6	39	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM182	130827	broad.mit.edu	37	2	103431254	103431254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103431254G>A	ENST00000412401.2	+	5	722	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182			11					CTGGGTCCAGGCAGTGGCTGA	0.468000																								0							SO:0001583	missense			ENST00000412401.2	1	1	hg19	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925589	0.52759	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.68479	-0.33;-0.33;-0.33	6.16	5.27	0.74061	.	0.229666	0.46145	D	0.000306	T	0.69424	0.3109	L	0.44542	1.39	0.42575	D	0.993199	P;P	0.41784	0.643;0.762	P;P	0.50378	0.639;0.639	T	0.67829	-0.5569	10	0.33141	T	0.24	-3.7239	15.7838	0.78286	0.0:0.1353:0.8647:0.0	.	173;130	Q6ZP80;B8ZZ71	TM182_HUMAN;.	T	77;130;173	ENSP00000387258:A77T;ENSP00000387184:A130T;ENSP00000394178:A173T	ENSP00000387184:A130T	A	+	1	0	TMEM182	102797686	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.473000	0.53122	1.583000	0.49898	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	1	0	1	43	136	0	31	1	9.996131e-01	17	25	0	31	2		0	0	0	0	0	2	1	1	43	129	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf48	348738	broad.mit.edu	37	2	10350578	10350578	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10350578T>C	ENST00000381786.3	+	4	624	c.335T>C	c.(334-336)tTc>tCc	p.F112S		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48			8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CGACCCTGTTTCAGAATGAAG	0.572000																								0							SO:0001583	missense			ENST00000381786.3	1	1	hg19	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	T	7.417	0.635880	0.14386	.	.	ENSG00000163009	ENST00000381786	T	0.46451	0.87	1.51	-0.013	0.13986	.	.	.	.	.	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.13656	-1.0501	9	0.87932	D	0	.	3.5676	0.07905	0.5114:0.0:0.0:0.4886	.	112	Q96LS8	CB048_HUMAN	S	112	ENSP00000371205:F112S	ENSP00000371205:F112S	F	+	2	0	C2orf48	10268029	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.390000	0.07332	-0.033000	0.13736	0.448000	0.29417	TTC		TCGA-IB-7651-01A-11D-2154-08	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	1	0	1	95	381	0	82	0	0	0	1	0	82	2		0	0	0	0	0	2	1	1	95	375	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGFBRAP1	9392	broad.mit.edu	37	2	105915065	105915065	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105915065C>T	ENST00000393359.2	-	3	1212	c.786G>A	c.(784-786)gcG>gcA	p.A262A	TGFBRAP1_ENST00000258449.1_Silent_p.A262A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	p.A262A(1)		31					CGTCATCGAGCGCTATGACGT	0.542000													Esophageal Squamous(183;794 2019 9730 21801 48859)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000393359.2	1	1	hg19	CCDS2067.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	1	0	1	126	352	0	95	1	9.999936e-01	5	46	0	95	2		0	0	0	0	0	2	1	1	125	350	0	95	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGFBRAP1	9392	broad.mit.edu	37	2	105924245	105924245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105924245C>T	ENST00000393359.2	-	2	940	c.514G>A	c.(514-516)Gct>Act	p.A172T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1			31					ACAGCCACAGCGAGGGGCTGC	0.562000													Esophageal Squamous(183;794 2019 9730 21801 48859)											0							SO:0001583	missense			ENST00000393359.2	1	1	hg19	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952985	0.73902	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04406	3.63;3.63	5.32	5.32	0.75619	Citron-like (2);	0.053757	0.64402	D	0.000001	T	0.06554	0.0168	L	0.47716	1.5	0.80722	D	1	P	0.47841	0.901	B	0.40677	0.337	T	0.48801	-0.9003	10	0.10636	T	0.68	-20.6955	19.1899	0.93660	0.0:1.0:0.0:0.0	.	172	Q8WUH2	TGFA1_HUMAN	T	172	ENSP00000377027:A172T;ENSP00000258449:A172T	ENSP00000258449:A172T	A	-	1	0	TGFBRAP1	105290677	1.000000	0.71417	0.590000	0.28732	0.869000	0.49853	7.313000	0.78978	2.760000	0.94817	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	1	0	1	175	859	0	157	1	9.948929e-01	6	35	0	157	2		0	0	0	0	0	2	1	1	173	839	0	155	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FHL2	2274	broad.mit.edu	37	2	105977891	105977891	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105977891C>T	ENST00000409807.1	-	6	1023	c.689G>A	c.(688-690)gGa>gAa	p.G230E	FHL2_ENST00000322142.8_Splice_Site_p.G230E|FHL2_ENST00000344213.4_Splice_Site_p.G340E|FHL2_ENST00000358129.4_Splice_Site_p.G230E|FHL2_ENST00000393353.3_Splice_Site_p.G230E|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Splice_Site_p.G230E|FHL2_ENST00000409177.1_Splice_Site_p.G346E|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393352.3_Splice_Site_p.G230E			Q14192	FHL2_HUMAN	four and a half LIM domains 2			9					GCCACCAAGTCCTGTTAACAG	0.443000																								0							SO:0001630	splice_region_variant			ENST00000409807.1	1	0	hg19	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238043	0.95240	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	T;T;T;T;T;T;T;T	0.61158	0.2;0.13;0.2;0.2;0.2;0.2;0.2;0.2	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.052402	0.85682	D	0.000000	T	0.74313	0.3700	L	0.60067	1.865	0.80722	D	1	P;P;D;P	0.76494	0.698;0.92;0.999;0.698	P;P;D;P	0.81914	0.58;0.742;0.995;0.58	T	0.76195	-0.3048	10	0.87932	D	0	.	19.3931	0.94592	0.0:1.0:0.0:0.0	.	230;230;340;230	Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	E	230;340;230;230;230;230;230;230	ENSP00000386892:G230E;ENSP00000344266:G340E;ENSP00000377021:G230E;ENSP00000377020:G230E;ENSP00000322909:G230E;ENSP00000350846:G230E;ENSP00000386665:G230E;ENSP00000386633:G230E	ENSP00000322909:G230E	G	-	2	0	FHL2	105344323	1.000000	0.71417	0.949000	0.38748	0.976000	0.68499	5.914000	0.69964	2.634000	0.89283	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1	1	0	1	56	303	0	60	1	1	27	656	0	60	2		0	0	0	0	0	2	1	1	55	298	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCK2	8440	broad.mit.edu	37	2	106471526	106471526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106471526G>A	ENST00000233154.4	+	3	449	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.E3K	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2			5					AAAGATGACAGAAGAAGTTAT	0.483000																								0							SO:0001583	missense			ENST00000233154.4	1	1	hg19	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565474	0.96527	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.73152	-0.72;1.72;1.47;1.72;1.46;-0.72	5.84	5.84	0.93424	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.35854	1.095	0.80722	D	1	D;P	0.67145	0.996;0.944	P;P	0.60286	0.872;0.581	T	0.78897	-0.2023	10	0.87932	D	0	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	3;3	E7ERP6;O43639	.;NCK2_HUMAN	K	3	ENSP00000233154:E3K;ENSP00000410428:E3K;ENSP00000377017:E3K;ENSP00000431109:E3K;ENSP00000408040:E3K;ENSP00000377018:E3K	ENSP00000233154:E3K	E	+	1	0	NCK2	105837958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.433000	0.97501	2.763000	0.94921	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	1	0	1	34	203	0	48	1	1	27	151	0	48	2		0	0	0	0	0	2	1	1	34	200	0	47	2								-3.325040	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
NCK2	8440	broad.mit.edu	37	2	106498449	106498449	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106498449G>A	ENST00000233154.4	+	4	1334	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2			5					GGCCGAGTGCGCCCTCAACGA	0.672000																								0							SO:0001583	missense			ENST00000233154.4	1	1	hg19	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147208	0.57151	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.63255	-0.03;-0.03	5.36	5.36	0.76844	SH2 motif (5);	0.158749	0.53938	D	0.000046	T	0.58293	0.2112	L	0.37507	1.11	0.80722	D	1	P	0.39060	0.657	B	0.39840	0.311	T	0.61143	-0.7122	10	0.52906	T	0.07	-20.2399	19.4433	0.94836	0.0:0.0:1.0:0.0	.	298	O43639	NCK2_HUMAN	T	298	ENSP00000233154:A298T;ENSP00000377018:A298T	ENSP00000233154:A298T	A	+	1	0	NCK2	105864881	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	4.867000	0.63013	2.681000	0.91329	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	1	0	1	24	226	0	31	1	9.999988e-01	25	194	0	31	2		0	0	0	0	0	2	1	9.999997e-01	24	222	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.810000	1.000000	1.000000	0.985666	0.990000	1	9.900000e-01	1
NCK2	8440	broad.mit.edu	37	2	106509467	106509467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106509467G>A	ENST00000233154.4	+	5	1420	c.978G>A	c.(976-978)gcG>gcA	p.A326A	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2			5					CCCTTAAAGCGTCAGGGAAGA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000233154.4	1	1	hg19	CCDS33266.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	1	0	1	86	233	0	79	1	1	49	161	0	79	2		0	0	0	0	0	2	1	1	85	228	0	78	2								-20.000000	1	1	121412	3	38	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf40	84417	broad.mit.edu	37	2	106690369	106690369	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106690369C>T	ENST00000238044.3	+	3	264	c.155C>T	c.(154-156)gCc>gTc	p.A52V	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Missense_Mutation_p.A16V	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40			8					ACTAAAGTGGCCGTTGATGAG	0.522000																								0							SO:0001583	missense			ENST00000238044.3	1	1	hg19	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591305	0.46214	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.54479	0.57;0.57;0.57	5.62	5.62	0.85841	.	0.116585	0.64402	D	0.000016	T	0.62036	0.2395	L	0.51422	1.61	0.40866	D	0.983874	P	0.49559	0.925	P	0.52159	0.691	T	0.63042	-0.6725	10	0.52906	T	0.07	-18.6853	19.6614	0.95875	0.0:1.0:0.0:0.0	.	52	Q9H1Z8	AUGN_HUMAN	V	16;52;54	ENSP00000386421:A16V;ENSP00000238044:A52V;ENSP00000388664:A54V	ENSP00000238044:A52V	A	+	2	0	C2orf40	106056801	0.991000	0.36638	0.932000	0.37286	0.105000	0.19272	3.048000	0.49862	2.633000	0.89246	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	1	0	1	143	844	0	184	0	5.827539e-01	0	13	0	184	2		0	0	0	0	0	2	1	1	141	833	0	184	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf40	84417	broad.mit.edu	37	2	106694297	106694297	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106694297G>A	ENST00000238044.3	+	4	471	c.362G>A	c.(361-363)cGt>cAt	p.R121H	C2orf40_ENST00000409944.1_Missense_Mutation_p.R85H	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40			8					TACTACCAACGTCACTATGAT	0.453000																								0							SO:0001583	missense			ENST00000238044.3	1	1	hg19	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	G	4.996	0.184997	0.09495	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.39997	1.05;1.05;1.05	5.31	4.44	0.53790	.	0.055536	0.64402	D	0.000001	T	0.21227	0.0511	N	0.16656	0.425	0.35120	D	0.76693	B	0.14012	0.009	B	0.13407	0.009	T	0.17992	-1.0351	10	0.07813	T	0.8	-8.5573	6.519	0.22264	0.3126:0.0:0.6874:0.0	.	121	Q9H1Z8	AUGN_HUMAN	H	85;121;123	ENSP00000386421:R85H;ENSP00000238044:R121H;ENSP00000388664:R123H	ENSP00000238044:R121H	R	+	2	0	C2orf40	106060729	1.000000	0.71417	0.994000	0.49952	0.783000	0.44284	3.886000	0.56190	1.231000	0.43661	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	1	0	1	109	314	0	87	0	9.894148e-01	1	22	0	87	2		0	0	0	0	0	2	1	1	107	309	0	86	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UXS1	80146	broad.mit.edu	37	2	106739525	106739525	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106739525A>G	ENST00000409501.3	-	9	702	c.645T>C	c.(643-645)agT>agC	p.S215S	UXS1_ENST00000409032.1_Silent_p.S47S|UXS1_ENST00000428048.2_Silent_p.S59S|UXS1_ENST00000283148.7_Silent_p.S220S|UXS1_ENST00000540130.1_Silent_p.S158S			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1			17					AGTAATCCTCACTTTGAGGGT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000409501.3	1	1	hg19	CCDS46378.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	1	0	0	73	340	0	94	1	1	33	117	0	94	2		0	0	0	0	0	2	1	1	71	334	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UXS1	80146	broad.mit.edu	37	2	106781241	106781241	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106781241C>A	ENST00000409501.3	-	3	180		c.e3-1		UXS1_ENST00000428048.2_Intron|UXS1_ENST00000283148.7_Missense_Mutation_p.R46M|UXS1_ENST00000540130.1_Intron			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1			17					CTGGATAGACCTGTTGAGTAG	0.328000																								0							SO:0001630	splice_region_variant			ENST00000409501.3	0	1	hg19	CCDS46378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.74|19.74	3.883523|3.883523	0.72410|0.72410	.|.	.|.	ENSG00000115652|ENSG00000115652	ENST00000409501|ENST00000283148	.|D	.|0.96396	.|-4.0	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.94941	.|0.8364	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.36315	.|0.547	.|B	.|0.37346	.|0.247	.|D	.|0.94890	.|0.8047	.|9	.|0.62326	.|D	.|0.03	.|-12.3826	16.61|16.61	0.84880|0.84880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|46	.|Q8NBZ7-2	.|.	.|M	-1|46	.|ENSP00000283148:R46M	.|ENSP00000283148:R46M	.|R	-|-	.|2	.|0	UXS1|UXS1	106147673|106147673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.292000|5.292000	0.65673|0.65673	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	.|AGG		TCGA-IB-7651-01A-11D-2154-08	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	1	0	1	8	31	0	11	0	7.390063e-01	0	12	0	11	2		0	0	0	0	0	2	1	9.920095e-01	8	31	0	11	2								-16.924800	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999120	0.990000	1	9.900000e-01	1
NOL10	79954	broad.mit.edu	37	2	10712235	10712235	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10712235G>T	ENST00000381685.5	-	21	2134	c.2029C>A	c.(2029-2031)Ctg>Atg	p.L677M	NOL10_ENST00000538384.1_Missense_Mutation_p.L651M|NOL10_ENST00000345985.3_Missense_Mutation_p.L627M|NOL10_ENST00000542668.1_Missense_Mutation_p.L627M	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10				Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				CTTGACTTCAGGTGTCCGGCC	0.473000																								0							SO:0001583	missense			ENST00000381685.5	1	1	hg19	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617780	0.66787	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.51071	0.72;1.36;1.36;1.36	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.74258	2.255	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.97;0.97;0.976	T	0.67711	-0.5600	10	0.49607	T	0.09	-12.1252	11.6934	0.51529	0.1419:0.0:0.8581:0.0	.	651;677;627	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	M	627;677;627;651	ENSP00000263837:L627M;ENSP00000371101:L677M;ENSP00000437625:L627M;ENSP00000439663:L651M	ENSP00000263837:L627M	L	-	1	2	NOL10	10629686	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.564000	0.45931	1.420000	0.47138	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	1	0	1	308	857	0	157	1	1	107	167	0	157	2		0	0	0	0	0	2	1	1	304	837	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST6GAL2	84620	broad.mit.edu	37	2	107459861	107459861	+	Silent	SNP	G	G	A	rs146192357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107459861G>A	ENST00000409382.3	-	2	1183	c.573C>T	c.(571-573)gaC>gaT	p.D191D	ST6GAL2_ENST00000409087.3_Silent_p.D191D|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.D191D	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2			65					GCCTGTCGCCGTCGTCGCCCT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000409382.3	1	0	hg19	CCDS2073.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	1	0	0	25	580	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	9.999998e-01	26	575	0	85	2								-4.555259	1	1	121412	317	57	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.530000	0.350000	0.750000	0.520000	0.543817	0.530000	0	4.300000e-01	6.400000e-01
SLC5A7	60482	broad.mit.edu	37	2	108609485	108609485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609485C>T	ENST00000264047.2	+	4	626	c.350C>T	c.(349-351)cCg>cTg	p.P117L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7			49				Choline(DB00122)	ATGTTAGACCCGTTTCAGCAA	0.423000																								0							SO:0001583	missense			ENST00000264047.2	1	1	hg19	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	35	5.509118	0.96386	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.86030	-2.06;-2.06;-2.06	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93150	0.6549	10	0.34782	T	0.22	-2.5788	20.8598	0.99761	0.0:1.0:0.0:0.0	.	117	Q9GZV3	SC5A7_HUMAN	L	117;12;117	ENSP00000387346:P117L;ENSP00000445351:P12L;ENSP00000264047:P117L	ENSP00000264047:P117L	P	+	2	0	SLC5A7	107975917	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1	1	0	1	182	510	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	178	502	0	96	2								-6.892112	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC5A7	60482	broad.mit.edu	37	2	108622641	108622641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108622641C>A	ENST00000264047.2	+	7	1154	c.878C>A	c.(877-879)gCc>gAc	p.A293D	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7			49				Choline(DB00122)	CTCATTGGGGCCATTGGAGCA	0.537000																								0							SO:0001583	missense			ENST00000264047.2	1	1	hg19	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023063	0.75275	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88201	-2.35;-2.35;-2.35	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95437	0.8522	10	0.45353	T	0.12	-21.0254	19.8703	0.96847	0.0:1.0:0.0:0.0	.	293	Q9GZV3	SC5A7_HUMAN	D	293;188;293	ENSP00000387346:A293D;ENSP00000445351:A188D;ENSP00000264047:A293D	ENSP00000264047:A293D	A	+	2	0	SLC5A7	107989073	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	7.773000	0.85462	2.770000	0.95276	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1	1	0	0	37	482	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	34	470	0	71	2								-3.221883	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.910000	0.650000	1.000000	1.000000	0.896160	0.910000	1	7.700000e-01	1
SLC5A7	60482	broad.mit.edu	37	2	108626966	108626966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108626966C>T	ENST00000264047.2	+	9	1668	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7			49				Choline(DB00122)	TCTACCCTGGCTATTACCCTG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000264047.2	1	1	hg19	CCDS2074.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1	1	0	1	73	425	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	1	71	416	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SULT1C4	27233	broad.mit.edu	37	2	108998883	108998883	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108998883A>G	ENST00000272452.2	+	3	664	c.338A>G	c.(337-339)aAa>aGa	p.K113R	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4			12					CGGATCCTGAAAACACATCTT	0.388000																								0							SO:0001583	missense			ENST00000272452.2	1	1	hg19	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630609	0.87660	.	.	ENSG00000198075	ENST00000272452	T	0.02763	4.17	4.44	4.44	0.53790	Sulfotransferase domain (1);	0.000000	0.53938	D	0.000055	T	0.10766	0.0263	M	0.76938	2.355	0.80722	D	1	P	0.47191	0.891	P	0.53988	0.739	T	0.01039	-1.1472	10	0.49607	T	0.09	.	13.3112	0.60380	1.0:0.0:0.0:0.0	.	113	O75897	ST1C4_HUMAN	R	113	ENSP00000272452:K113R	ENSP00000272452:K113R	K	+	2	0	SULT1C4	108365315	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.839000	0.62810	1.986000	0.57962	0.496000	0.49642	AAA		TCGA-IB-7651-01A-11D-2154-08	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	1	0	1	235	1093	0	232	0	0	0	1	0	232	2		0	0	0	0	0	2	1	1	231	1075	0	230	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCC2	9648	broad.mit.edu	37	2	109088536	109088536	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109088536A>G	ENST00000309863.6	+	6	3465	c.2751A>G	c.(2749-2751)gaA>gaG	p.E917E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2			54					AACAAAAAGAATTACGAGATA	0.284000																								0							SO:0001819	synonymous_variant			ENST00000309863.6	1	1	hg19	CCDS33268.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	1	0	1	71	237	0	74	1	1	32	132	0	74	2		0	0	0	0	0	2	1	1	69	232	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCC2	9648	broad.mit.edu	37	2	109109236	109109236	+	Silent	SNP	G	G	A	rs73954367	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109109236G>A	ENST00000309863.6	+	19	5151	c.4437G>A	c.(4435-4437)ccG>ccA	p.P1479P		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2			54					AGAATGAACCGACCACAAGAA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000309863.6	1	0	hg19	CCDS33268.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	1	0	0	14	211	0	40	1	9.993101e-01	13	177	0	40	2		0	0	0	0	0	2	1	9.997611e-01	14	208	0	40	2								-3.315569	1	1	121412	635	58	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.800000	0.460000	1.000000	1.000000	0.803754	0.800000	0	6.200000e-01	1
ATP6V1C2	245973	broad.mit.edu	37	2	10912016	10912016	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10912016C>T	ENST00000272238.4	+	7	631	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ATP6V1C2_ENST00000381661.3_Silent_p.F174F|RP11-791G15.2_ENST00000606907.1_lincRNA	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	p.F174L(2)		19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				AAGAGGACTTCGTGCTGGATT	0.532000													NSCLC(188;1042 2136 10807 16813 47705)											2	Substitution - Missense(2)						SO:0001819	synonymous_variant			ENST00000272238.4	1	1	hg19	CCDS42653.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	1	0	1	240	707	0	123	1	7.632801e-01	7	3	0	123	2		0	0	0	0	0	2	1	1	236	697	0	123	2								-7.753162	1	1	121412	1	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6V1C2	245973	broad.mit.edu	37	2	10918751	10918751	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10918751G>T	ENST00000272238.4	+	12	1126	c.1017G>T	c.(1015-1017)tgG>tgT	p.W339C	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.W293C	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2			19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				TCATTGCCTGGATCCACATCA	0.622000													NSCLC(188;1042 2136 10807 16813 47705)											0							SO:0001583	missense			ENST00000272238.4	1	1	hg19	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419227	0.83559	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.51325	0.71;0.71	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.89601	3.045	0.80722	D	1	B;D	0.76494	0.172;0.999	B;D	0.70935	0.19;0.971	T	0.80120	-0.1515	10	0.72032	D	0.01	-8.0036	19.9204	0.97084	0.0:0.0:1.0:0.0	.	293;339	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	C	339;293	ENSP00000272238:W339C;ENSP00000371077:W293C	ENSP00000272238:W339C	W	+	3	0	ATP6V1C2	10836202	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.773000	0.98989	2.721000	0.93114	0.491000	0.48974	TGG		TCGA-IB-7651-01A-11D-2154-08	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	1	0	1	92	320	0	85	1	2.203587e-01	3	1	0	85	2		0	0	0	0	0	2	1	1	88	317	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDIA6	10130	broad.mit.edu	37	2	10931982	10931982	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10931982G>T	ENST00000272227.3	-	6	670	c.523C>A	c.(523-525)Ctg>Atg	p.L175M	PDIA6_ENST00000404371.2_Missense_Mutation_p.L227M|PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M|PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6			18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				TCACTGTCCAGAACATTCTTA	0.398000													GBM(73;509 1219 34219 41343 41551)											0							SO:0001583	missense			ENST00000272227.3	1	1	hg19	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845266	0.51164	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9	5.63	5.63	0.86233	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.062970	0.64402	D	0.000003	T	0.14527	0.0351	M	0.67700	2.07	0.80722	D	1	B;B;B;P	0.40476	0.313;0.197;0.079;0.718	P;B;P;P	0.61132	0.579;0.397;0.448;0.884	T	0.00007	-1.2496	10	0.66056	D	0.02	.	10.7576	0.46245	0.0694:0.0:0.7977:0.1329	.	172;223;227;175	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	M	175;227;223;172;180	ENSP00000272227:L175M;ENSP00000385385:L227M;ENSP00000384459:L223M;ENSP00000438778:L172M;ENSP00000371024:L180M	ENSP00000272227:L175M	L	-	1	2	PDIA6	10849433	0.988000	0.35896	0.552000	0.28243	0.471000	0.32888	1.670000	0.37502	2.826000	0.97356	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	1	0	1	108	270	0	56	1	1	904	1382	0	56	2	0	0	1	0	0	1	2	1	1	108	269	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANBP2	5903	broad.mit.edu	37	2	109352168	109352168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109352168G>T	ENST00000283195.6	+	5	712	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2		RANBP2/ALK(34)	129					GAGGAACATAGCTTTGCGTTC	0.433000																								0							SO:0001583	missense			ENST00000283195.6	1	1	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974458	0.53720	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	5.0	5.0	0.66597	.	.	.	.	.	T	0.30262	0.0759	M	0.61703	1.905	0.23661	N	0.997177	B	0.21381	0.055	B	0.18561	0.022	T	0.12656	-1.0539	9	0.21014	T	0.42	-13.8792	10.8541	0.46789	0.0:0.1481:0.7165:0.1353	.	196	P49792	RBP2_HUMAN	S	196	ENSP00000283195:A196S	ENSP00000283195:A196S	A	+	1	0	RANBP2	108718600	0.001000	0.12720	0.925000	0.36789	0.967000	0.64934	0.027000	0.13621	2.498000	0.84270	0.455000	0.32223	GCT		TCGA-IB-7651-01A-11D-2154-08	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	0	1	460	1216	0	432	1	9.996259e-01	3	30	0	432	2		0	0	0	0	0	2	1	1	235	636	1	467	9								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANBP2	5903	broad.mit.edu	37	2	109367806	109367806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109367806C>T	ENST00000283195.6	+	10	1486	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2		RANBP2/ALK(34)	129					ACCTGGAATCCGAAAATGGCT	0.388000																								0							SO:0001587	stop_gained			ENST00000283195.6	0	1	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	38	7.129996	0.98085	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	4.97	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3898	15.8284	0.78733	0.0:0.8639:0.1361:0.0	.	.	.	.	X	454	.	ENSP00000283195:R454X	R	+	1	2	RANBP2	108734238	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	2.491000	0.45303	1.211000	0.43351	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	1	0	0	196	603	0	195	0	9.891126e-01	1	23	0	195	2		0	0	0	0	0	2	1	1	51	163	0	249	2								-6.409076	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANBP2	5903	broad.mit.edu	37	2	109380402	109380402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109380402G>A	ENST00000283195.6	+	20	3533	c.3407G>A	c.(3406-3408)gGt>gAt	p.G1136D		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2		RANBP2/ALK(34)	129					ACTTTCCATGGTCCAGGGAAA	0.423000																								0							SO:0001583	missense			ENST00000283195.6	1	1	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442717	0.25987	.	.	ENSG00000153201	ENST00000283195	T	0.28069	1.63	5.44	4.55	0.56014	.	.	.	.	.	T	0.24160	0.0585	L	0.38953	1.18	0.19775	N	0.999955	B	0.10296	0.003	B	0.08055	0.003	T	0.05131	-1.0904	9	0.48119	T	0.1	-13.12	8.3245	0.32149	0.1773:0.0:0.8227:0.0	.	1136	P49792	RBP2_HUMAN	D	1136	ENSP00000283195:G1136D	ENSP00000283195:G1136D	G	+	2	0	RANBP2	108746834	0.832000	0.29368	0.996000	0.52242	0.199000	0.23934	3.153000	0.50685	2.537000	0.85549	0.557000	0.71058	GGT		TCGA-IB-7651-01A-11D-2154-08	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	0	1	118	561	0	121	1	9.999998e-01	36	67	0	121	2		0	0	0	0	0	2	1	1	115	545	0	121	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANBP2	5903	broad.mit.edu	37	2	109383227	109383227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109383227G>T	ENST00000283195.6	+	20	6358	c.6232G>T	c.(6232-6234)Gaa>Taa	p.E2078*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2		RANBP2/ALK(34)	129					GATGCGAAGAGAACAAGTACT	0.423000																								0							SO:0001587	stop_gained			ENST00000283195.6	0	1	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	47	13.207144	0.99727	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.982	19.718	0.96131	0.0:0.0:1.0:0.0	.	.	.	.	X	1102;2078	.	ENSP00000283195:E2078X	E	+	1	0	RANBP2	108749659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.653000	0.90120	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	1	0	0	506	1414	0	425	1	1	7	84	0	425	2		0	0	0	0	0	2	1	1	411	1190	0	505	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANBP2	5903	broad.mit.edu	37	2	109389383	109389383	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109389383A>C	ENST00000283195.6	+	23	8299	c.8173A>C	c.(8173-8175)Aaa>Caa	p.K2725Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2		RANBP2/ALK(34)	129					AGAGAAGGCAAAAGCAGATAC	0.353000																								0							SO:0001583	missense			ENST00000283195.6	1	1	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213182	0.79352	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.31769	1.48	5.98	5.98	0.97165	Nup358/RanBP2 E3 ligase domain (1);	.	.	.	.	T	0.29061	0.0722	N	0.24115	0.695	0.25469	N	0.987849	D	0.54772	0.968	P	0.50934	0.654	T	0.11717	-1.0576	9	0.23302	T	0.38	-28.6269	11.4836	0.50339	0.9287:0.0:0.0713:0.0	.	2725	P49792	RBP2_HUMAN	Q	1749;2725	ENSP00000283195:K2725Q	ENSP00000283195:K2725Q	K	+	1	0	RANBP2	108755815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.793000	0.62474	2.289000	0.77006	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	1	0	0	19	195	0	36	1	9.999825e-01	7	188	0	36	2		0	0	0	0	0	2	1	9.999891e-01	18	187	0	36	2								-8.102389	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.720000	1.000000	1.000000	0.966074	0.990000	1	9.100000e-01	1
CCDC138	165055	broad.mit.edu	37	2	109473334	109473334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109473334C>A	ENST00000295124.4	+	13	1661	c.1601C>A	c.(1600-1602)gCt>gAt	p.A534D	CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138			14					GAGTATCAGGCTGTTCCAGTA	0.373000																								0							SO:0001583	missense			ENST00000295124.4	1	1	hg19	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	c	18.97	3.735870	0.69189	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	T;T	0.46451	0.87;0.92	5.52	5.52	0.82312	.	0.137949	0.47852	D	0.000207	T	0.64136	0.2571	M	0.69823	2.125	0.40120	D	0.976589	D;D	0.89917	0.992;1.0	P;D	0.76575	0.9;0.988	T	0.67971	-0.5532	10	0.87932	D	0	-11.4975	15.6841	0.77396	0.0:0.8627:0.1373:0.0	.	534;534	Q96M89-2;Q96M89	.;CC138_HUMAN	D	534	ENSP00000411800:A534D;ENSP00000295124:A534D	ENSP00000295124:A534D	A	+	2	0	CCDC138	108839766	1.000000	0.71417	0.966000	0.40874	0.858000	0.48976	3.941000	0.56607	2.605000	0.88082	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	1	0	1	182	510	0	143	1	6.637690e-01	5	3	0	143	2		0	0	0	0	0	2	1	1	181	506	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EDAR	10913	broad.mit.edu	37	2	109524431	109524431	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109524431C>A	ENST00000258443.2	-	10	1278	c.848G>T	c.(847-849)aGc>aTc	p.S283I	EDAR_ENST00000376651.1_Missense_Mutation_p.S315I|EDAR_ENST00000409271.1_Missense_Mutation_p.S315I	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor			16					ACTGTCGACGCTCCGGCTCAG	0.632000																								0							SO:0001583	missense			ENST00000258443.2	1	1	hg19	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641763	0.67244	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94650	-3.48;-3.29;-3.48	5.64	5.64	0.86602	.	0.114476	0.85682	D	0.000000	D	0.97185	0.9080	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	D	0.97461	1.0034	10	0.87932	D	0	-30.4742	19.7084	0.96083	0.0:1.0:0.0:0.0	.	315;283	E9PC98;Q9UNE0	.;EDAR_HUMAN	I	315;283;315	ENSP00000386371:S315I;ENSP00000258443:S283I;ENSP00000365839:S315I	ENSP00000258443:S283I	S	-	2	0	EDAR	108890863	1.000000	0.71417	0.960000	0.40013	0.152000	0.21847	7.209000	0.77916	2.648000	0.89879	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1	1	0	1	81	189	0	46	1	7.436494e-01	7	1	0	46	2		0	0	0	0	0	2	1	1	81	185	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3RF3	344558	broad.mit.edu	37	2	109964294	109964294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109964294C>T	ENST00000309415.6	+	2	738	c.738C>T	c.(736-738)agC>agT	p.S246S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3			18					TCCCAGCCAGCTATATCCAGT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000309415.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	48	109	0	28	0	9.994700e-01	1	29	0	28	2		0	0	0	0	0	2	1	1	47	105	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3RF3	344558	broad.mit.edu	37	2	110036048	110036048	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110036048G>A	ENST00000309415.6	+	5	1353	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3			18					GGGCTGCCTCGGTGTCTGGAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000309415.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	4	44	0	11	0	7.803559e-01	0	33	0	11	2		0	0	0	0	0	2	1	8.932228e-01	4	44	0	11	2								-8.985604	1	1	120728	5	31	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.400000	1.000000	1.000000	0.893964	0.990000	1	6.900000e-01	1
SH3RF3	344558	broad.mit.edu	37	2	110065683	110065683	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110065683G>A	ENST00000309415.6	+	8	1886	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3			18					TCACCCCTGCGCACCCAGAAC	0.662000																								0							SO:0001583	missense			ENST00000309415.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.14	3.557727	0.65425	4.63E-4	0.0	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.58940	0.3;2.08	5.15	5.15	0.70609	.	0.053596	0.85682	D	0.000000	T	0.67795	0.2931	.	.	.	0.54753	D	0.999989	D	0.69078	0.997	P	0.56088	0.791	T	0.64011	-0.6507	9	0.30078	T	0.28	-29.9474	18.8174	0.92081	0.0:0.0:1.0:0.0	.	629	Q8TEJ3	SH3R3_HUMAN	H	629	ENSP00000414997:R629H;ENSP00000309186:R629H	ENSP00000309186:R629H	R	+	2	0	SH3RF3	109432115	1.000000	0.71417	0.970000	0.41538	0.027000	0.11550	6.664000	0.74437	2.680000	0.91292	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	12	131	0	24	0	8.436490e-01	0	39	0	24	2		0	0	0	0	0	2	1	9.991073e-01	12	127	0	24	2								-17.163930	1	1	121182	13	38	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.600000	1.000000	1.000000	0.936377	0.990000	1	8.200000e-01	1
SEPT10	151011	broad.mit.edu	37	2	110323436	110323436	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110323436C>A	ENST00000397712.2	-	7	1141	c.763G>T	c.(763-765)Gga>Tga	p.G255*	SEPT10_ENST00000356688.4_Splice_Site_p.G255*|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000545389.1_Splice_Site_p.G88*|SEPT10_ENST00000415095.1_Splice_Site_p.G255*|SEPT10_ENST00000397714.2_Splice_Site_p.G232*|SEPT10_ENST00000334001.6_Splice_Site_p.G122*|SEPT10_ENST00000437928.1_Splice_Site_p.G240*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10			18					GGCAACTGTCCCTGAAAAAGA	0.388000																								0							SO:0001630	splice_region_variant			ENST00000397712.2	0	1	hg19	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289347	0.80914	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000493445;ENST00000423520	.	.	.	5.25	5.25	0.73442	.	0.267610	0.31922	N	0.006845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7996	0.92010	0.0:1.0:0.0:0.0	.	.	.	.	X	213;255;255;232;122;240;88;255;62;88	.	ENSP00000334234:G122X	G	-	1	0	SEPT10	109680725	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.338000	0.79269	2.600000	0.87896	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	0	0	0	54	547	0	135	0	9.999994e-01	1	209	0	135	2		0	0	0	0	0	2	1	1	54	534	0	135	2								-2.774725	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.990348	0.990000	1	9.900000e-01	1
KCNF1	3754	broad.mit.edu	37	2	11052960	11052960	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11052960G>T	ENST00000295082.1	+	1	898	c.408G>T	c.(406-408)gaG>gaT	p.E136D		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1			19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				AGAAGCGCGAGGAGCTGGAGG	0.642000																								0							SO:0001583	missense			ENST00000295082.1	1	1	hg19	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282346	0.23392	.	.	ENSG00000162975	ENST00000295082	D	0.94457	-3.43	5.19	4.06	0.47325	BTB/POZ fold (2);	1.515580	0.04082	N	0.309783	D	0.90497	0.7023	N	0.20685	0.6	0.44492	D	0.99743	B	0.09022	0.002	B	0.06405	0.002	T	0.70234	-0.4928	10	0.34782	T	0.22	.	12.4587	0.55718	0.1157:0.0:0.8843:0.0	.	136	Q9H3M0	KCNF1_HUMAN	D	136	ENSP00000295082:E136D	ENSP00000295082:E136D	E	+	3	2	KCNF1	10970411	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.634000	0.24614	2.564000	0.86499	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	1	0	1	50	402	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	49	395	0	56	2								-3.318794	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999656	0.990000	1	9.900000e-01	1
NPHP1	4867	broad.mit.edu	37	2	110936030	110936030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110936030G>T	ENST00000393272.3	-	4	396	c.299C>A	c.(298-300)gCt>gAt	p.A100D	NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000316534.4_Missense_Mutation_p.A100D	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)			24					TATTGTCACAGCAAGGCCCTG	0.363000																								0							SO:0001583	missense			ENST00000393272.3	1	1	hg19	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258482	0.39896	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000417665;ENST00000418527	T;T;T;T	0.62364	0.03;0.06;0.03;0.06	5.57	5.57	0.84162	.	0.210292	0.38959	N	0.001519	T	0.76723	0.4027	M	0.61703	1.905	0.42839	D	0.994045	P;P;D;P;P;D	0.71674	0.664;0.947;0.998;0.933;0.773;0.96	B;B;D;B;B;P	0.71656	0.231;0.344;0.974;0.357;0.408;0.56	T	0.76572	-0.2910	10	0.51188	T	0.08	-15.4178	17.4116	0.87487	0.0:0.0:1.0:0.0	.	100;100;100;100;100;100	B4DQY0;C9JNM7;C9J082;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	D	100	ENSP00000313169:A100D;ENSP00000389879:A100D;ENSP00000376953:A100D;ENSP00000402176:A100D	ENSP00000313169:A100D	A	-	2	0	NPHP1	110293319	0.944000	0.32072	0.795000	0.32087	0.182000	0.23217	4.441000	0.59981	2.780000	0.95670	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	1	0	1	120	338	0	76	1	9.999274e-01	20	22	0	76	2		0	0	0	0	0	2	1	1	118	328	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BUB1	699	broad.mit.edu	37	2	111398943	111398943	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111398943C>A	ENST00000302759.6	-	22	2842	c.2724G>T	c.(2722-2724)gtG>gtT	p.V908V	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Intron|BUB1_ENST00000535254.1_Silent_p.V888V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase			45		Ovarian(717;0.0822)			CACAGTCATGCACTTGCTCAA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000302759.6	1	1	hg19	CCDS33273.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	1	0	1	120	565	0	141	1	9.871680e-01	16	18	0	141	2		0	0	0	0	0	2	1	1	119	558	0	141	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACOXL	55289	broad.mit.edu	37	2	111551244	111551244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111551244G>A	ENST00000389811.4	+	4	401	c.177G>A	c.(175-177)tgG>tgA	p.W59*	ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*|ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like			21					TAATTTATTGGCTATTTGGTG	0.413000																								0							SO:0001587	stop_gained			ENST00000389811.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.708355	0.96821	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561;ENST00000448863	.	.	.	5.24	5.24	0.73138	.	0.417998	0.22554	N	0.058543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-21.1242	16.3486	0.83191	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000343717:W59X	W	+	3	0	ACOXL	111267715	1.000000	0.71417	0.984000	0.44739	0.766000	0.43426	2.240000	0.43088	2.459000	0.83118	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	1	0	1	106	641	0	127	0	1.522932e-01	0	5	0	127	2		0	0	0	0	0	2	1	1	105	634	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACOXL	55289	broad.mit.edu	37	2	111559251	111559251	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111559251G>A	ENST00000389811.4	+	8	794	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ACOXL_ENST00000340561.4_Silent_p.G190G|ACOXL_ENST00000439055.1_Silent_p.G190G			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like			21					TGGACAATGGGATATTAATAT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000389811.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	1	0	1	87	302	0	83	0	2.210845e-01	0	4	0	83	2		0	0	0	0	0	2	1	1	86	296	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANAPC1	64682	broad.mit.edu	37	2	112601003	112601003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112601003C>T	ENST00000341068.3	-	17	2798	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1			49					CTAGTCCATGCTAAGCGGTCT	0.353000																								0							SO:0001583	missense			ENST00000341068.3	1	1	hg19	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.884|6.884	0.532519|0.532519	0.13127|0.13127	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|.	0.48201|.	0.82|.	4.51|4.51	3.63|3.63	0.41609|0.41609	.|.	0.375961|.	0.17661|.	N|.	0.166306|.	T|T	0.26340|0.26340	0.0643|0.0643	N|N	0.17631|0.17631	0.505|0.505	0.30186|0.30186	N|N	0.79999|0.79999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.13853|.	T|.	0.58|.	-8.0213|-8.0213	4.8761|4.8761	0.13656|0.13656	0.2894:0.5447:0.0:0.1659|0.2894:0.5447:0.0:0.1659	.|.	676|.	Q9H1A4|.	APC1_HUMAN|.	T|N	676|210	ENSP00000339109:A676T|.	ENSP00000339109:A676T|.	A|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112317474|112317474	0.983000|0.983000	0.35010|0.35010	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	0.399000|0.399000	0.20916|0.20916	0.875000|0.875000	0.35847|0.35847	0.446000|0.446000	0.29264|0.29264	GCA|AGC		TCGA-IB-7651-01A-11D-2154-08	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	1	0	1	49	214	0	44	1	9.988987e-01	18	30	0	44	2		0	0	0	0	0	2	1	1	47	196	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANAPC1	64682	broad.mit.edu	37	2	112638284	112638284	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112638284C>T	ENST00000341068.3	-	2	891	c.119G>A	c.(118-120)cGc>cAc	p.R40H	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1			49					CTGCAGCTGGCGAAGTTGAAG	0.493000																								0							SO:0001583	missense			ENST00000341068.3	1	1	hg19	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964728	0.92791	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.83	4.96	0.65561	.	0.000000	0.44483	U	0.000442	T	0.53932	0.1827	L	0.48362	1.52	0.53005	D	0.999967	P;B	0.49559	0.925;0.167	B;B	0.43052	0.406;0.018	T	0.57653	-0.7774	9	0.51188	T	0.08	-15.8115	14.8488	0.70281	0.0:0.9309:0.0:0.0691	.	40;40	F8WAS1;Q9H1A4	.;APC1_HUMAN	H	40	.	ENSP00000339109:R40H	R	-	2	0	ANAPC1	112354755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.222000	0.78025	1.453000	0.47775	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	1	0	1	51	210	0	38	1	9.875764e-01	4	27	0	38	2		0	0	0	0	0	2	1	1	50	202	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MERTK	10461	broad.mit.edu	37	2	112722774	112722774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112722774C>T	ENST00000295408.4	+	5	1021	c.764C>T	c.(763-765)aCg>aTg	p.T255M	MERTK_ENST00000421804.2_Missense_Mutation_p.T255M|MERTK_ENST00000409780.1_Missense_Mutation_p.T79M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase			46					CCAGGCCTGACGGAGATGGCG	0.483000																								0							SO:0001583	missense			ENST00000295408.4	1	1	hg19	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696541	0.30142	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.13657	2.57;2.57;2.57	5.6	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34460	U	0.003950	T	0.29524	0.0736	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.64506	0.926	T	0.07966	-1.0745	10	0.87932	D	0	-16.4748	9.1185	0.36773	0.2841:0.592:0.1239:0.0	.	255	Q12866	MERTK_HUMAN	M	255;255;79	ENSP00000295408:T255M;ENSP00000389152:T255M;ENSP00000387277:T79M	ENSP00000295408:T255M	T	+	2	0	MERTK	112439245	0.875000	0.30112	0.609000	0.28983	0.053000	0.15095	1.785000	0.38684	1.308000	0.44962	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2	1	0	1	55	267	0	70	1	9.999962e-01	2	90	0	70	2		0	0	0	0	0	2	1	1	55	261	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf50	130813	broad.mit.edu	37	2	11273597	11273597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11273597G>A	ENST00000381585.3	+	1	419	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y|AC062028.1_ENST00000396164.1_lincRNA			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50			3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)				GCTGGTGGCTGCCAGGCCCCC	0.711000																								0							SO:0001583	missense			ENST00000381585.3	1	1	hg19	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	G	9.229	1.035269	0.19590	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	3.35	-0.0478	0.13841	.	0.865809	0.09677	N	0.770278	T	0.26991	0.0661	N	0.22421	0.69	0.09310	N	1	B	0.33288	0.406	B	0.31245	0.126	T	0.15780	-1.0425	9	0.24483	T	0.36	5.7794	11.1446	0.48424	0.0:0.5472:0.4528:0.0	.	46	Q96LR7	CB050_HUMAN	Y	46	.	ENSP00000370997:C46Y	C	+	2	0	C2orf50	11191048	0.000000	0.05858	0.003000	0.11579	0.111000	0.19643	-0.850000	0.04317	-0.026000	0.13895	0.472000	0.43445	TGC		TCGA-IB-7651-01A-11D-2154-08	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	1	0	1	33	106	0	19	0	5.943462e-02	1	1	0	19	2		0	0	0	0	0	2	1	1	33	105	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MERTK	10461	broad.mit.edu	37	2	112766019	112766019	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112766019G>T	ENST00000295408.4	+	14	2184	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y|MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase			46					GTGCATGAAAGACTTCAGCCA	0.478000																								0							SO:0001583	missense			ENST00000295408.4	1	1	hg19	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628837	0.87560	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	D;D;D	0.82984	-1.67;-1.67;-1.67	5.96	5.96	0.96718	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33553	U	0.004800	D	0.88503	0.6454	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88800	0.3284	10	0.87932	D	0	-41.4143	19.1828	0.93630	0.0:0.0:1.0:0.0	.	643	Q12866	MERTK_HUMAN	Y	643;643;285;467	ENSP00000295408:D643Y;ENSP00000389152:D643Y;ENSP00000387277:D467Y	ENSP00000295408:D643Y	D	+	1	0	MERTK	112482490	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.582000	0.90791	2.829000	0.97493	0.579000	0.79373	GAC		TCGA-IB-7651-01A-11D-2154-08	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2	1	0	1	68	244	0	74	1	1	8	155	0	74	2		0	0	0	0	0	2	1	1	65	242	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MERTK	10461	broad.mit.edu	37	2	112779036	112779036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112779036G>A	ENST00000295408.4	+	17	2484	c.2227G>A	c.(2227-2229)Ggc>Agc	p.G743S	MERTK_ENST00000421804.2_Missense_Mutation_p.G743S|MERTK_ENST00000409780.1_Missense_Mutation_p.G567S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase			46					TGCGGACTTCGGCCTCTCTAA	0.483000																								0							SO:0001583	missense			ENST00000295408.4	1	1	hg19	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794592	0.96952	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34156	U	0.004202	D	0.97356	0.9135	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98130	1.0430	10	0.87932	D	0	-27.087	19.012	0.92877	0.0:0.0:1.0:0.0	.	743	Q12866	MERTK_HUMAN	S	743;743;379;567;67	ENSP00000295408:G743S;ENSP00000389152:G743S;ENSP00000387277:G567S;ENSP00000412660:G67S	ENSP00000295408:G743S	G	+	1	0	MERTK	112495507	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.657000	0.98554	2.724000	0.93272	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2	1	0	1	84	417	0	93	1	9.999998e-01	2	109	0	93	2		0	0	0	0	0	2	1	1	83	411	0	92	2								-2.982487	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBLN7	129804	broad.mit.edu	37	2	112942917	112942917	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112942917G>A	ENST00000331203.2	+	7	1218		c.e7+1		FBLN7_ENST00000409903.1_Splice_Site|FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409450.3_Splice_Site	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7			17					CGTCTCCATTGTGAGTATCTC	0.572000																								0							SO:0001630	splice_region_variant			ENST00000331203.2	1	1	hg19	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507593	0.64410	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7029	0.91627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN7	112659388	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.268000	0.95675	2.513000	0.84729	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	1	0	0	19	323	0	64	0	3.538928e-03	1	1	0	64	2		0	0	0	0	0	2	1	9.999907e-01	19	319	0	63	2								-19.974220	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.710000	0.440000	1.000000	1.000000	0.730077	0.710000	0	5.700000e-01	8.900000e-01
FBLN7	129804	broad.mit.edu	37	2	112944947	112944947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112944947A>G	ENST00000331203.2	+	8	1455	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7			17					CAGACTGGGGATCTGATCCTT	0.647000																								0							SO:0001583	missense			ENST00000331203.2	1	1	hg19	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265622	0.40095	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	N	0.08118	0	0.27037	N	0.964119	B;B;B	0.24368	0.001;0.001;0.102	B;B;B	0.20577	0.005;0.007;0.03	T	0.12451	-1.0547	10	0.31617	T	0.26	-26.3332	15.451	0.75274	1.0:0.0:0.0:0.0	.	261;349;395	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	G	395;261;349;217	ENSP00000331411:D395G;ENSP00000386822:D261G;ENSP00000387000:D349G;ENSP00000272559:D217G	ENSP00000272559:D217G	D	+	2	0	FBLN7	112661418	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	8.861000	0.92277	2.056000	0.61249	0.454000	0.30748	GAT		TCGA-IB-7651-01A-11D-2154-08	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	0	0	1	159	560	0	106	1	9.986768e-01	2	35	0	106	2		0	0	0	0	0	2	1	1	157	553	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H6	376940	broad.mit.edu	37	2	113088934	113088934	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113088934C>T	ENST00000409871.1	+	12	2840	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	ZC3H6_ENST00000343936.4_Silent_p.G813G|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6			35					CAAATGCTGGCACTAATGTCA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000409871.1	1	1	hg19	CCDS46393.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	1	0	1	85	456	0	106	1	7.983500e-01	3	15	0	106	2		0	0	0	0	0	2	1	1	84	451	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR1B	84172	broad.mit.edu	37	2	113309541	113309541	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113309541T>C	ENST00000263331.5	+	6	1532	c.952T>C	c.(952-954)Tac>Cac	p.Y318H	POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H|POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa			42					TCCTGACTGGTACCCAAATGA	0.438000													Ovarian(16;256 576 9537 23969 41147)											0							SO:0001583	missense			ENST00000263331.5	1	1	hg19	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065246	0.55432	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.03	5.03	0.67393	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.178498	0.51477	D	0.000095	T	0.75583	0.3869	M	0.74258	2.255	0.51482	D	0.999925	P;D;B;P	0.76494	0.51;0.999;0.058;0.566	B;D;B;B	0.72982	0.149;0.979;0.086;0.315	T	0.72981	-0.4126	10	0.16420	T	0.52	-10.5154	14.0384	0.64660	0.0:0.0:0.0:1.0	.	356;318;262;318	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	H	318;356;318;107;262	ENSP00000263331:Y318H;ENSP00000444136:Y356H;ENSP00000387143:Y318H;ENSP00000437914:Y107H;ENSP00000405358:Y262H	ENSP00000263331:Y318H	Y	+	1	0	POLR1B	113026012	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	6.223000	0.72257	2.025000	0.59659	0.482000	0.46254	TAC		TCGA-IB-7651-01A-11D-2154-08	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	1	0	1	110	333	0	102	1	9.999935e-01	24	31	0	102	2		0	0	0	0	0	2	1	1	108	329	0	102	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR1B	84172	broad.mit.edu	37	2	113315647	113315647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113315647G>A	ENST00000263331.5	+	8	1899	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H|POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa			42					GGGAATCTGCGTTCTAAAACA	0.343000													Ovarian(16;256 576 9537 23969 41147)											0							SO:0001583	missense			ENST00000263331.5	1	1	hg19	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937416	0.73557	0.0	1.16E-4	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	6.04	6.04	0.98038	.	0.264671	0.44688	D	0.000436	D	0.82370	0.5022	L	0.61387	1.9	0.44702	D	0.997695	D;P;D	0.57899	0.981;0.561;0.968	P;B;B	0.50617	0.646;0.052;0.365	T	0.81236	-0.1024	10	0.42905	T	0.14	-19.4875	19.3507	0.94384	0.0:0.0:1.0:0.0	.	478;384;440	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	H	440;478;229;384	ENSP00000263331:R440H;ENSP00000444136:R478H;ENSP00000437914:R229H;ENSP00000405358:R384H	ENSP00000263331:R440H	R	+	2	0	POLR1B	113032118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.406000	0.59748	2.873000	0.98535	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	1	0	1	24	189	0	37	1	9.946507e-01	18	50	0	37	2		0	0	0	0	0	2	1	9.999998e-01	25	186	0	37	2								-11.102520	1	1	121268	2	38	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.960000	1.000000	1.000000	0.997151	0.990000	1	9.900000e-01	1
POLR1B	84172	broad.mit.edu	37	2	113333196	113333196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113333196C>T	ENST00000263331.5	+	15	3878	c.3298C>T	c.(3298-3300)Ctg>Ttg	p.L1100L	POLR1B_ENST00000537335.1_Silent_p.L889L|POLR1B_ENST00000541869.1_Silent_p.L1138L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000417433.2_Silent_p.L1044L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa			42					CAACTGTACTCTGTGTAGTCG	0.458000													Ovarian(16;256 576 9537 23969 41147)											0							SO:0001819	synonymous_variant			ENST00000263331.5	1	1	hg19	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	4.802	0.149075	0.09185	.	.	ENSG00000125630	ENST00000536096	.	.	.	5.37	-3.41	0.04839	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.38933	D	0.957993	.	.	.	.	.	.	T	0.64592	-0.6371	5	0.87932	D	0	-6.2206	8.4804	0.33038	0.0848:0.1293:0.6273:0.1586	.	.	.	.	F	458	.	ENSP00000441192:S458F	S	+	2	0	POLR1B	113049667	0.003000	0.15002	0.000000	0.03702	0.962000	0.63368	0.042000	0.13949	-0.551000	0.06175	-0.262000	0.10625	TCT		TCGA-IB-7651-01A-11D-2154-08	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	1	0	0	140	367	0	85	1	1	32	44	0	85	2		0	0	0	0	0	2	1	1	140	359	0	85	2								-7.658458	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROCK2	9475	broad.mit.edu	37	2	11337362	11337362	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11337362T>C	ENST00000315872.6	-	27	3840	c.3392A>G	c.(3391-3393)gAt>gGt	p.D1131G	ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2			43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				ACTGGAACTATCCAGACCAAT	0.433000																								0							SO:0001583	missense			ENST00000315872.6	1	1	hg19	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885433	0.91814	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64991	-0.13;0.9	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.74881	2.28	0.80722	D	1	D	0.56035	0.974	P	0.53062	0.717	T	0.74447	-0.3662	10	0.42905	T	0.14	.	16.0084	0.80380	0.0:0.0:0.0:1.0	.	1131	O75116	ROCK2_HUMAN	G	1131;888;489	ENSP00000317985:D1131G;ENSP00000385509:D888G	ENSP00000317985:D1131G	D	-	2	0	ROCK2	11254813	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.842000	0.86851	2.180000	0.69256	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3	1	0	1	141	346	0	66	1	1	37	88	0	66	2		0	0	0	0	0	2	1	1	139	343	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC20A1	6574	broad.mit.edu	37	2	113416788	113416788	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416788G>A	ENST00000272542.3	+	8	1595	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1			28					TAGGTGCAGTGCAGTTGCCTA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000272542.3	1	1	hg19	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234197	0.01505	.	.	ENSG00000144136	ENST00000433924	.	.	.	5.57	1.5	0.22942	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	T	0.45659	-0.9246	4	.	.	.	-12.5585	7.6007	0.28075	0.0769:0.0:0.5076:0.4154	.	.	.	.	T	136	.	.	A	+	1	0	SLC20A1	113133259	0.991000	0.36638	0.997000	0.53966	0.220000	0.24768	0.475000	0.22164	0.300000	0.22699	-0.182000	0.12963	GCA		TCGA-IB-7651-01A-11D-2154-08	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	1	0	1	112	372	0	100	1	1	60	169	0	100	2		0	0	0	0	0	2	1	1	111	363	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC20A1	6574	broad.mit.edu	37	2	113416903	113416903	+	Missense_Mutation	SNP	C	C	A	rs11552050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416903C>A	ENST00000272542.3	+	8	1710	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1			28					GTACAAAGAGCTACTCCATAA	0.478000																								0							SO:0001583	missense			ENST00000272542.3	1	1	hg19	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.864962|3.864962	0.71949|0.71949	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000433924|ENST00000272542;ENST00000409095	.|D	.|0.92249	.|-3.0	5.33|5.33	4.26|4.26	0.50523|0.50523	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94092|0.94092	0.8106|0.8106	L|L	0.56124|0.56124	1.755|1.755	0.51767|0.51767	D|D	0.999936|0.999936	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	D|D	0.93439|0.93439	0.6792|0.6792	5|10	.|0.51188	.|T	.|0.08	-44.6552|-44.6552	12.1642|12.1642	0.54120|0.54120	0.0:0.9016:0.0:0.0984|0.0:0.9016:0.0:0.0984	.|.	.|391;391	.|A7LNJ1;Q8WUM9	.|.;S20A1_HUMAN	D|I	174|391;203	.|ENSP00000272542:L391I	.|ENSP00000272542:L391I	A|L	+|+	2|1	0|2	SLC20A1|SLC20A1	113133374|113133374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.720000|2.720000	0.47252|0.47252	2.517000|2.517000	0.84864|0.84864	0.655000|0.655000	0.94253|0.94253	GCT|CTA		TCGA-IB-7651-01A-11D-2154-08	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	1	0	1	101	476	0	136	1	1	25	264	0	136	2		0	0	0	0	0	2	1	1	101	469	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CKAP2L	150468	broad.mit.edu	37	2	113513898	113513898	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113513898G>A	ENST00000302450.6	-	4	1128	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	CKAP2L_ENST00000541405.1_Silent_p.N185N|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like			28					CTTGCTTGATGTTTGGATGTC	0.433000																								0							SO:0001819	synonymous_variant			ENST00000302450.6	1	1	hg19	CCDS2100.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	1	0	0	177	519	0	137	1	9.033046e-01	2	12	0	137	2		0	0	0	0	0	2	1	1	172	505	0	137	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CKAP2L	150468	broad.mit.edu	37	2	113514322	113514322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113514322G>A	ENST00000302450.6	-	4	704	c.626C>T	c.(625-627)cCa>cTa	p.P209L	CKAP2L_ENST00000541405.1_Missense_Mutation_p.P44L|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like			28					GTCAGTCTTTGGCTTACTTCT	0.353000																								0							SO:0001583	missense			ENST00000302450.6	1	1	hg19	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891306	0.52014	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.17854	2.25;3.2	5.0	5.0	0.66597	.	0.526312	0.17617	N	0.167865	T	0.23133	0.0559	M	0.73598	2.24	0.47994	D	0.999565	P	0.44044	0.825	P	0.44897	0.463	T	0.07809	-1.0753	10	0.02654	T	1	-1.9767	14.5097	0.67776	0.0:0.0:1.0:0.0	.	209	Q8IYA6	CKP2L_HUMAN	L	44;209	ENSP00000438763:P44L;ENSP00000305204:P209L	ENSP00000305204:P209L	P	-	2	0	CKAP2L	113230793	0.044000	0.20184	0.812000	0.32479	0.175000	0.22909	2.232000	0.43018	2.705000	0.92388	0.585000	0.79938	CCA		TCGA-IB-7651-01A-11D-2154-08	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	1	0	1	37	217	0	73	1	7.015263e-01	6	10	0	73	2		0	0	0	0	0	2	1	1	36	214	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
IL1B	3553	broad.mit.edu	37	2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113588108G>A	ENST00000263341.2	-	7	850	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta			12				Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AAGACAAATCGCTTTTCCATC	0.423000																								0							SO:0001587	stop_gained			ENST00000263341.2	0	1	hg19	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234989	0.97399	.	.	ENSG00000125538	ENST00000263341	.	.	.	5.39	4.5	0.54988	.	0.059451	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9562	11.2899	0.49244	0.0:0.0:0.8182:0.1818	.	.	.	.	X	214	.	ENSP00000263341:R214X	R	-	1	2	IL1B	113304579	0.863000	0.29885	0.944000	0.38274	0.999000	0.98932	0.985000	0.29578	1.492000	0.48499	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	1	0	1	87	616	0	109	0	1	1	212	0	109	2		0	0	0	0	0	2	1	1	87	608	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSD4	23550	broad.mit.edu	37	2	113940351	113940351	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940351C>A	ENST00000245796.6	+	2	513	c.318C>A	c.(316-318)ccC>ccA	p.P106P	PSD4_ENST00000441564.3_Silent_p.P106P|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4			29					ATGCTCCTCCCTGGGGCTCCG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000245796.6	1	1	hg19	CCDS33276.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	1	0	1	100	215	0	54	1	9.999920e-01	11	30	0	54	2		0	0	0	0	0	2	1	1	98	210	0	54	2								-9.663124	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSD4	23550	broad.mit.edu	37	2	113940800	113940800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940800G>A	ENST00000245796.6	+	2	962	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	PSD4_ENST00000441564.3_Missense_Mutation_p.C256Y	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4			29					GCGAGTCCTTGCTCAGAGAAC	0.597000																								0							SO:0001583	missense			ENST00000245796.6	1	1	hg19	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623347	0.28889	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09911	2.96;2.93	5.83	-3.81	0.04294	.	0.734366	0.13127	N	0.411733	T	0.05547	0.0146	L	0.29908	0.895	0.23361	N	0.997835	B;B	0.17667	0.023;0.013	B;B	0.20384	0.029;0.013	T	0.39187	-0.9626	9	.	.	.	.	2.9831	0.05960	0.2146:0.3227:0.3571:0.1056	.	256;256	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	Y	256	ENSP00000245796:C256Y;ENSP00000413997:C256Y	.	C	+	2	0	PSD4	113657271	0.000000	0.05858	0.470000	0.27216	0.678000	0.39670	-1.117000	0.03283	-0.380000	0.07894	-0.964000	0.02622	TGC		TCGA-IB-7651-01A-11D-2154-08	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	1	0	1	92	404	0	104	1	9.987809e-01	5	41	0	104	2		0	0	0	0	0	2	1	1	88	394	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSD4	23550	broad.mit.edu	37	2	113955353	113955353	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955353G>T	ENST00000245796.6	+	14	2682	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	PSD4_ENST00000441564.3_Missense_Mutation_p.E800D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4			29					TGGAGGGGGAGAGCTTGGTGG	0.627000																								0							SO:0001583	missense			ENST00000245796.6	1	1	hg19	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	7.974	0.749789	0.15778	.	.	ENSG00000125637	ENST00000245796;ENST00000441564;ENST00000409378	T;T	0.10382	2.88;2.9	4.67	1.74	0.24563	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.986040	0.08314	N	0.964991	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25772	0.045;0.134;0.012;0.134	B;B;B;B	0.38755	0.103;0.281;0.037;0.281	T	0.51865	-0.8651	10	0.35671	T	0.21	.	8.0802	0.30739	0.091:0.4703:0.4387:0.0	.	59;486;800;829	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	D	829;800;42	ENSP00000245796:E829D;ENSP00000413997:E800D	ENSP00000245796:E829D	E	+	3	2	PSD4	113671824	0.962000	0.33011	0.713000	0.30519	0.360000	0.29518	1.057000	0.30492	0.040000	0.15660	-0.379000	0.06801	GAG		TCGA-IB-7651-01A-11D-2154-08	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	0	0	0	11	358	0	69	0	4.418503e-01	1	46	0	69	2		0	0	0	0	0	2	1	9.982385e-01	11	352	0	67	2								-10.997210	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.390000	0.200000	0.640000	0.390000	0.409238	0.390000	0	2.800000e-01	5.200000e-01
PSD4	23550	broad.mit.edu	37	2	113955419	113955419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955419G>A	ENST00000245796.6	+	14	2748	c.2553G>A	c.(2551-2553)acG>acA	p.T851T	PSD4_ENST00000441564.3_Silent_p.T822T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	p.T851T(1)		29					CCCCCGCCACGCATTACACCA	0.652000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000245796.6	1	1	hg19	CCDS33276.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	1	0	1	43	222	0	45	1	9.957305e-01	9	37	0	45	2		0	0	0	0	0	2	1	1	29	206	0	41	2								-20.000000	1	0	121412	1	30	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAX8	7849	broad.mit.edu	37	2	114004419	114004419	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114004419C>T	ENST00000429538.3	-	3	297	c.103G>A	c.(103-105)Gta>Ata	p.V35I	AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8		PAX8/PPARG(117)	20					GCCAGGTCTACGATGCGCTGG	0.612000			T	PPARG	follicular thyroid		Thyroid dysgenesis						Ovarian(188;7 2067 9084 29802 29892)		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	0		GRCh37	CM065372	PAX8	M		SO:0001583	missense			ENST00000429538.3	1	1	hg19	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965967	0.92855	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99483	-5.99;-5.99;-5.99;-5.99;-5.99	5.1	5.1	0.69264	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	L	0.48986	1.54	0.80722	D	1	P;D;D;D;D	0.89917	0.787;1.0;0.993;0.992;0.968	P;D;D;P;P	0.78314	0.613;0.991;0.96;0.566;0.767	D	0.99387	1.0924	10	0.87932	D	0	.	16.0313	0.80579	0.0:1.0:0.0:0.0	.	35;35;35;35;35	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	I	35	ENSP00000263335:V35I;ENSP00000380768:V35I;ENSP00000314750:V35I;ENSP00000395498:V35I;ENSP00000263334:V35I	ENSP00000263334:V35I	V	-	1	0	PAX8	113720889	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	7.763000	0.85283	2.382000	0.81193	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5	1	0	1	54	263	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	1	52	259	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABL2A	11159	broad.mit.edu	37	2	114391779	114391779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114391779G>T	ENST00000393167.3	+	4	412	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S|RABL2A_ENST00000409875.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A			9					CAAGCACACAGCCACGGTAGA	0.552000																								0							SO:0001583	missense			ENST00000393167.3	1	1	hg19	CCDS2118.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374341	0.42105	.	.	ENSG00000144134	ENST00000393167;ENST00000409842;ENST00000413545;ENST00000393165;ENST00000393166;ENST00000409875;ENST00000376439	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.05;-1.36;-1.36;-1.36;-1.36	4.13	3.25	0.37280	Small GTP-binding protein domain (1);	0.308233	0.40640	N	0.001055	T	0.80166	0.4573	M	0.65975	2.015	0.21762	N	0.999553	P;P;P;D	0.53312	0.633;0.589;0.633;0.959	P;P;P;P	0.53689	0.507;0.507;0.507;0.732	T	0.68492	-0.5394	10	0.08179	T	0.78	.	8.0718	0.30693	0.2026:0.0:0.7974:0.0	.	63;63;63;63	Q6IC14;A0AUY0;Q9UBK7;B7ZBD5	.;.;RBL2A_HUMAN;.	S	63	ENSP00000376872:A63S;ENSP00000386460:A63S;ENSP00000388944:A63S;ENSP00000376870:A63S;ENSP00000376871:A63S;ENSP00000387229:A63S;ENSP00000365622:A63S	ENSP00000365622:A63S	A	+	1	0	RABL2A	114108249	0.951000	0.32395	0.257000	0.24404	0.476000	0.33039	1.826000	0.39092	0.966000	0.38159	-0.369000	0.07265	GCC		TCGA-IB-7651-01A-11D-2154-08	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2	1	0	1	13	90	0	27	1	9.389246e-01	5	31	0	27	2		0	0	0	0	0	2	1	9.994819e-01	13	84	0	34	2								-19.958890	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.930000	1.000000	1.000000	0.995416	0.990000	1	9.900000e-01	1
RABL2A	11159	broad.mit.edu	37	2	114398497	114398497	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114398497C>A	ENST00000393167.3	+	6	549	c.324C>A	c.(322-324)acC>acA	p.T108T	RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000409875.1_Silent_p.T108T|RABL2A_ENST00000393165.3_Silent_p.T108T	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A			9					GGAAAGTCACCTATAGGAACC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000393167.3	1	1	hg19	CCDS2118.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2	0	0	1	57	347	0	82	0	8.149279e-01	1	20	0	82	2		0	0	0	0	0	2	1	9.999999e-01	57	324	1	94	15								-3.018296	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35F5	80255	broad.mit.edu	37	2	114476770	114476770	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114476770C>A	ENST00000245680.2	-	14	1870	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	SLC35F5_ENST00000470204.2_5'UTR|MIR4782_ENST00000577987.1_RNA	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5			20					AGCAAATATTCTTCTGATTCC	0.313000																								0							SO:0001583	missense			ENST00000245680.2	1	1	hg19	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001974|4.001974	0.74932|0.74932	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000420066|ENST00000245680;ENST00000409106	.|T;T	.|0.47177	.|0.85;0.85	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.56761	.|0.2007	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.75484	.|0.986	.|T	.|0.58493	.|-0.7627	.|10	.|0.46703	.|T	.|0.11	-16.8411|-16.8411	19.592|19.592	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|486	.|Q8WV83	.|S35F5_HUMAN	X|I	18|486;480	.|ENSP00000245680:R486I;ENSP00000386754:R480I	.|ENSP00000245680:R486I	E|R	-|-	1|2	0|0	SLC35F5|SLC35F5	114193240|114193240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.601000|7.601000	0.82783|0.82783	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GAA|AGA		TCGA-IB-7651-01A-11D-2154-08	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	1	0	1	37	254	0	81	1	1	58	231	0	81	2		0	0	0	0	0	2	1	1	37	249	0	79	2								-16.402480	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999905	0.990000	1	9.900000e-01	1
SLC35F5	80255	broad.mit.edu	37	2	114501313	114501313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114501313C>A	ENST00000245680.2	-	6	952	c.539G>T	c.(538-540)aGc>aTc	p.S180I	SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5			20					AATGTTTGTGCTCTCAGGTTT	0.343000																								0							SO:0001583	missense			ENST00000245680.2	1	1	hg19	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202722	0.38905	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.48522	0.81;0.81	5.35	4.41	0.53225	.	0.509245	0.23142	N	0.051441	T	0.28499	0.0705	N	0.14661	0.345	0.40549	D	0.981104	B;B;B	0.26876	0.162;0.015;0.037	B;B;B	0.28553	0.091;0.009;0.026	T	0.10941	-1.0608	10	0.36615	T	0.2	-3.8121	6.8013	0.23752	0.0:0.7491:0.0:0.2509	.	180;174;180	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	I	180;174;174	ENSP00000245680:S180I;ENSP00000386754:S174I	ENSP00000245680:S180I	S	-	2	0	SLC35F5	114217783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.340000	0.33896	1.327000	0.45338	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	1	0	1	157	616	0	208	1	1	85	187	0	208	2		0	0	0	0	0	2	1	1	157	614	0	208	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
E2F6	1876	broad.mit.edu	37	2	11597324	11597324	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11597324T>C	ENST00000381525.3	-	2	413	c.144A>G	c.(142-144)gtA>gtG	p.V48V	E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000546212.1_Intron|E2F6_ENST00000362009.4_Silent_p.V48V|E2F6_ENST00000307236.4_Silent_p.V16V	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6			8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				ACACATATTGTACATTATCTT	0.249000																								0							SO:0001819	synonymous_variant			ENST00000381525.3	1	1	hg19	CCDS1680.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	1	0	1	43	114	0	37	1	9.915757e-01	10	13	0	37	2		0	0	0	0	0	2	1	1	43	112	0	37	2								-20.000000	1	1	120738	1	26	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP10	57628	broad.mit.edu	37	2	116066831	116066831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116066831G>A	ENST00000410059.1	+	2	557	c.77G>A	c.(76-78)aGc>aAc	p.S26N	DPP10_ENST00000310323.8_Missense_Mutation_p.S19N|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)			101					GGAAGTAACAGCCCTCCACAG	0.408000																								0							SO:0001583	missense			ENST00000410059.1	1	1	hg19	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136495	0.06711	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	N	0.25245	0.725	0.43267	D	0.995217	B;B;B;B	0.18610	0.029;0.0;0.008;0.014	B;B;B;B	0.23018	0.043;0.002;0.013;0.013	T	0.08472	-1.0720	10	0.02654	T	1	-1.0384	13.8543	0.63517	0.0735:0.0:0.9265:0.0	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	26;22;30;19	ENSP00000386565:S26N;ENSP00000376854:S22N;ENSP00000376855:S30N;ENSP00000309066:S19N	ENSP00000309066:S19N	S	+	2	0	DPP10	115783301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.471000	0.45127	1.375000	0.46248	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	1	54	183	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	54	179	0	47	2								-20.000000	1	1	121410	1	28	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP10	57628	broad.mit.edu	37	2	116101424	116101424	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101424G>A	ENST00000410059.1	+	3	687	c.207G>A	c.(205-207)ttG>ttA	p.L69L	DPP10_ENST00000310323.8_Silent_p.L62L|DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000393147.2_Silent_p.L73L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)			101					AAACCAGATTGTCTTTGGAAG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000410059.1	1	1	hg19	CCDS46400.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	1	73	321	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	71	318	0	66	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP10	57628	broad.mit.edu	37	2	116101463	116101463	+	Silent	SNP	C	C	T	rs143448690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101463C>T	ENST00000410059.1	+	3	726	c.246C>T	c.(244-246)caC>caT	p.H82H	DPP10_ENST00000310323.8_Silent_p.H75H|DPP10_ENST00000409163.1_Silent_p.H32H|DPP10_ENST00000393147.2_Silent_p.H86H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)			101					TTGTGCTTCACGATCCAGAGG	0.333000																								0							SO:0001819	synonymous_variant			ENST00000410059.1	1	1	hg19	CCDS46400.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	1	64	275	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1	63	271	0	57	2								-20.000000	1	0	121406	27	43	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP10	57628	broad.mit.edu	37	2	116283483	116283483	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116283483A>G	ENST00000410059.1	+	5	856	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)			101					GGTAACCTTCAAAGCATCAAG	0.279000																								0							SO:0001583	missense			ENST00000410059.1	1	1	hg19	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070143	0.76301	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;D;T;T;D	0.95724	1.61;1.61;-3.79;1.61;1.61;-3.79	4.99	4.99	0.66335	.	0.252077	0.38837	N	0.001546	D	0.95573	0.8561	M	0.69823	2.125	0.38306	D	0.94311	P;P;P;P	0.51791	0.936;0.919;0.948;0.895	P;B;P;P	0.52217	0.693;0.3;0.63;0.496	D	0.94845	0.8008	10	0.23891	T	0.37	-30.62	12.5691	0.56326	1.0:0.0:0.0:0.0	.	119;130;122;126	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	126;76;122;130;119;76;76	ENSP00000386565:K126E;ENSP00000387038:K76E;ENSP00000376854:K122E;ENSP00000376855:K130E;ENSP00000309066:K119E;ENSP00000402499:K76E	ENSP00000309066:K119E	K	+	1	0	DPP10	115999953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.357000	0.73051	2.084000	0.62774	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	1	55	192	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	1	53	189	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP10	57628	broad.mit.edu	37	2	116520160	116520160	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116520160A>G	ENST00000410059.1	+	12	1567	c.1087A>G	c.(1087-1089)Aca>Gca	p.T363A	DPP10_ENST00000310323.8_Missense_Mutation_p.T356A|DPP10_ENST00000409163.1_Missense_Mutation_p.T313A|DPP10_ENST00000393147.2_Missense_Mutation_p.T367A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)			101					ATATGAGATGACATCAGATAC	0.353000																								0							SO:0001583	missense			ENST00000410059.1	0	1	hg19	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	8.327	0.825688	0.16749	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.99	3.83	0.44106	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.499086	0.21341	N	0.076137	T	0.09686	0.0238	N	0.01250	-0.93	0.29987	N	0.817178	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.15484	0.008;0.002;0.013;0.013	T	0.08932	-1.0698	10	0.33940	T	0.23	-1.6217	4.4942	0.11828	0.6423:0.1833:0.1744:0.0	.	356;367;359;363	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	A	363;313;367;356;313	ENSP00000386565:T363A;ENSP00000387038:T313A;ENSP00000376855:T367A;ENSP00000309066:T356A	ENSP00000309066:T356A	T	+	1	0	DPP10	116236630	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.676000	0.54612	0.927000	0.37143	0.454000	0.30748	ACA		TCGA-IB-7651-01A-11D-2154-08	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	0	0	0	12	589	0	120	0	4.997090e-04	0	2	0	120	2		0	0	0	0	0	2	1	9.990514e-01	12	581	0	119	2								-3.056907	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.290000	0.140000	1.000000	0.260000	0.436541	0.290000	0	2.000000e-01	1
GREB1	9687	broad.mit.edu	37	2	11733252	11733252	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11733252G>A	ENST00000381486.2	+	11	1996	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	GREB1_ENST00000234142.5_Splice_Site_p.G566R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1			30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CGCCGTCACCGGTGAGCTCTG	0.657000													Ovarian(39;850 945 2785 23371 33093)											0							SO:0001630	splice_region_variant			ENST00000381486.2	1	0	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475001	0.84640	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.61742	2.45;2.45;0.08	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80306	-0.1438	10	0.87932	D	0	.	18.3141	0.90213	0.0:0.0:1.0:0.0	.	200;566	C9JIG0;Q4ZG55	.;GREB1_HUMAN	R	566;566;200	ENSP00000370896:G566R;ENSP00000234142:G566R;ENSP00000403886:G200R	ENSP00000234142:G566R	G	+	1	0	GREB1	11650703	1.000000	0.71417	0.987000	0.45799	0.387000	0.30353	9.306000	0.96204	2.332000	0.79248	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1	21	81	0	20	0	0	0	1	0	20	2		0	0	0	0	0	2	1	9.999987e-01	21	79	0	20	2								-3.713241	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
GREB1	9687	broad.mit.edu	37	2	11738934	11738934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11738934C>T	ENST00000381486.2	+	15	2581	c.2281C>T	c.(2281-2283)Ccg>Tcg	p.P761S	GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1			30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CTTCCAGAACCCGCATACACT	0.433000													Ovarian(39;850 945 2785 23371 33093)											0							SO:0001583	missense			ENST00000381486.2	1	1	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126189	0.20959	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.48522	3.14;3.14;0.81	5.04	5.04	0.67666	.	0.208574	0.42821	D	0.000660	T	0.65883	0.2734	L	0.60845	1.875	0.58432	D	0.999997	P;D	0.89917	0.884;1.0	B;D	0.87578	0.292;0.998	T	0.63804	-0.6554	10	0.36615	T	0.2	-49.1598	18.3867	0.90469	0.0:1.0:0.0:0.0	.	395;761	C9JIG0;Q4ZG55	.;GREB1_HUMAN	S	761;761;395	ENSP00000370896:P761S;ENSP00000234142:P761S;ENSP00000403886:P395S	ENSP00000234142:P761S	P	+	1	0	GREB1	11656385	1.000000	0.71417	0.543000	0.28128	0.044000	0.14063	4.476000	0.60216	2.344000	0.79699	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1	179	501	0	180	0	6.651985e-01	0	8	0	180	2		0	0	0	0	0	2	1	1	172	488	0	177	2								-7.843152	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GREB1	9687	broad.mit.edu	37	2	11756779	11756779	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11756779C>T	ENST00000381486.2	+	21	3645	c.3345C>T	c.(3343-3345)agC>agT	p.S1115S	GREB1_ENST00000234142.5_Silent_p.S1115S|GREB1_ENST00000396123.1_Silent_p.S113S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1			30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				AGAAGAGAAGCCCCATGAAAA	0.547000													Ovarian(39;850 945 2785 23371 33093)											0							SO:0001819	synonymous_variant			ENST00000381486.2	1	1	hg19	CCDS42655.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1	156	1135	0	240	0	1.482600e-02	0	2	0	240	2		0	0	0	0	0	2	1	1	154	1120	0	239	2								-20.000000	1	1	120944	1	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GREB1	9687	broad.mit.edu	37	2	11777873	11777873	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11777873C>T	ENST00000381486.2	+	31	5678	c.5378C>T	c.(5377-5379)gCc>gTc	p.A1793V	GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V|GREB1_ENST00000396123.1_Missense_Mutation_p.A791V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1			30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GTCGTGCCGGCCCAGTACATC	0.657000													Ovarian(39;850 945 2785 23371 33093)											0							SO:0001583	missense			ENST00000381486.2	1	1	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953873	0.18431	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.22134	3.29;3.29;1.97	4.75	3.87	0.44632	.	0.253826	0.39210	N	0.001434	T	0.14700	0.0355	N	0.25647	0.755	0.37633	D	0.921731	B	0.06786	0.001	B	0.12837	0.008	T	0.09552	-1.0669	10	0.27785	T	0.31	-18.3019	12.3092	0.54920	0.0:0.9176:0.0:0.0823	.	1793	Q4ZG55	GREB1_HUMAN	V	1793;1793;791	ENSP00000370896:A1793V;ENSP00000234142:A1793V;ENSP00000379429:A791V	ENSP00000234142:A1793V	A	+	2	0	GREB1	11695324	1.000000	0.71417	0.991000	0.47740	0.830000	0.47004	4.544000	0.60691	2.186000	0.69663	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1	58	347	0	68	0	4.343577e-01	0	10	0	68	2		0	0	0	0	0	2	1	1	59	346	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX18	8886	broad.mit.edu	37	2	118582670	118582670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118582670C>T	ENST00000263239.2	+	9	1489	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18			25					CCCGTCTTGGCCATTCATGTA	0.388000																								0							SO:0001583	missense			ENST00000263239.2	1	1	hg19	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784446	0.49997	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.74526	-0.85;-0.85	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.046893	0.85682	N	0.000000	T	0.69753	0.3146	N	0.21508	0.67	0.80722	D	1	P	0.38167	0.621	P	0.44897	0.463	T	0.67473	-0.5662	10	0.30078	T	0.28	.	19.0359	0.92978	0.0:1.0:0.0:0.0	.	454	Q9NVP1	DDX18_HUMAN	V	454;193;118	ENSP00000263239:A454V;ENSP00000415604:A118V	ENSP00000263239:A454V	A	+	2	0	DDX18	118299140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	2.583000	0.87209	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	1	0	1	63	550	0	112	1	1	35	260	0	112	2		0	0	0	0	0	2	1	1	61	536	0	112	2								-19.294250	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	0.999698	0.990000	1	9.900000e-01	1
DDX18	8886	broad.mit.edu	37	2	118583136	118583136	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118583136C>T	ENST00000263239.2	+	10	1610	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18			25					TTCCTGAAGTCGACTGGATTG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000263239.2	1	1	hg19	CCDS2120.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	1	0	1	43	405	0	91	1	9.999998e-01	31	191	0	91	2		0	0	0	0	0	2	1	9.998378e-01	44	397	1	91	17								-3.075755	1	1	121412	1	34	1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.940000	1.000000	1.000000	0.996887	0.990000	1	9.900000e-01	1
CCDC93	54520	broad.mit.edu	37	2	118758448	118758448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118758448C>A	ENST00000376300.2	-	4	449	c.312G>T	c.(310-312)gaG>gaT	p.E104D	RP11-98C1.2_ENST00000591103.1_RNA|RP11-98C1.1_ENST00000588733.1_RNA|AC009303.1_ENST00000590516.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93			29					TCTGGTGGGGCTCCAGCTGGT	0.453000																								0							SO:0001583	missense			ENST00000376300.2	1	1	hg19	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126002	0.77436	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.49432	0.78;0.78	5.01	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.80508	2.5	0.50813	D	0.999895	D	0.89917	1.0	D	0.83275	0.996	T	0.70163	-0.4947	10	0.44086	T	0.13	-23.1679	12.5642	0.56300	0.0:0.918:0.0:0.082	.	104	Q567U6	CCD93_HUMAN	D	104	ENSP00000365477:E104D;ENSP00000324135:E104D	ENSP00000324135:E104D	E	-	3	2	CCDC93	118474918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.082000	0.30803	1.480000	0.48289	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	1	0	0	17	240	0	50	1	7.657586e-01	4	37	0	50	2		0	0	0	0	0	2	1	9.999668e-01	17	237	0	50	2								-6.359293	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.950000	0.550000	1.000000	1.000000	0.887247	0.950000	1	7.200000e-01	1
LPIN1	23175	broad.mit.edu	37	2	11922524	11922524	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11922524G>T	ENST00000256720.2	+	7	1140	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1			45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				AAGACCTGGAGACCTTAGGAG	0.522000																								0							SO:0001583	missense			ENST00000256720.2	1	1	hg19	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269071	0.23221	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.5	5.5	0.81552	.	0.518813	0.22091	N	0.064743	T	0.65015	0.2651	L	0.58810	1.83	0.80722	D	1	B;B;B	0.16166	0.016;0.002;0.011	B;B;B	0.17979	0.02;0.006;0.019	T	0.58399	-0.7643	10	0.25106	T	0.35	-25.3093	11.3028	0.49316	0.0708:0.1284:0.8008:0.0	.	434;349;391	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	D	434;391;391;355;349;79	ENSP00000397908:E434D;ENSP00000379405:E391D;ENSP00000379406:E391D;ENSP00000401522:E355D;ENSP00000256720:E349D;ENSP00000379404:E79D	ENSP00000256720:E349D	E	+	3	2	LPIN1	11839975	1.000000	0.71417	0.847000	0.33407	0.018000	0.09664	3.696000	0.54757	2.757000	0.94681	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	1	0	1	87	275	0	68	1	1	29	65	0	68	2		0	0	0	0	0	2	1	1	85	266	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPIN1	23175	broad.mit.edu	37	2	11955257	11955257	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11955257A>C	ENST00000256720.2	+	17	2278	c.2185A>C	c.(2185-2187)Atg>Ctg	p.M729L	LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1			45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				TGCCATCGGGATGGCGGACAT	0.542000																								0							SO:0001583	missense			ENST00000256720.2	1	1	hg19	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886297	0.91814	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.95	4.95	0.65309	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	L	0.41573	1.285	0.80722	D	1	P;D;B	0.67145	0.853;0.996;0.096	P;D;B	0.80764	0.717;0.994;0.345	T	0.81385	-0.0957	10	0.49607	T	0.09	-35.1722	14.6363	0.68692	1.0:0.0:0.0:0.0	.	230;814;729	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	814;771;735;729;459;230	ENSP00000397908:M814L;ENSP00000379406:M771L;ENSP00000401522:M735L;ENSP00000256720:M729L;ENSP00000379404:M459L;ENSP00000386120:M230L	ENSP00000256720:M729L	M	+	1	0	LPIN1	11872708	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.780000	0.91799	1.860000	0.53959	0.460000	0.39030	ATG		TCGA-IB-7651-01A-11D-2154-08	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	0	0	0	8	295	0	47	1	5.114385e-01	2	58	0	47	2		0	0	0	0	0	2	1	9.891867e-01	8	292	0	45	2								-3.568846	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.350000	0.160000	0.620000	0.330000	0.372623	0.350000	0	2.400000e-01	4.900000e-01
MARCO	8685	broad.mit.edu	37	2	119699912	119699912	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119699912C>A	ENST00000327097.4	+	1	171	c.36C>A	c.(34-36)ctC>ctA	p.L12L	MARCO_ENST00000541757.1_De_novo_Start_OutOfFrame	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	p.L12L(1)		70					AGGACGAGCTCTTGAGTGAGA	0.438000													GBM(8;18 374 7467 11269 32796)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000327097.4	1	0	hg19	CCDS2124.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	1	0	1	105	266	0	59	0	1	0	73	0	59	2		0	0	0	0	0	2	1	1	102	265	0	59	2								-7.577295	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARCO	8685	broad.mit.edu	37	2	119727762	119727762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119727762G>T	ENST00000327097.4	+	3	407	c.272G>T	c.(271-273)aGc>aTc	p.S91I	MARCO_ENST00000541757.1_Missense_Mutation_p.S13I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure			70					GCTGAGGACAGCCCGTCCTTC	0.607000													GBM(8;18 374 7467 11269 32796)											0							SO:0001583	missense			ENST00000327097.4	1	1	hg19	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691316	0.30052	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.90324	-2.65;-2.61	4.22	-4.57	0.03421	.	1.340110	0.04576	N	0.394204	T	0.80555	0.4645	N	0.24115	0.695	0.09310	N	1	P	0.35982	0.531	B	0.33690	0.168	T	0.70699	-0.4800	9	.	.	.	.	5.8173	0.18500	0.5132:0.2672:0.2196:0.0	.	91	Q9UEW3	MARCO_HUMAN	I	91;91;13;13	ENSP00000318916:S91I;ENSP00000441769:S13I	.	S	+	2	0	MARCO	119444232	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.076000	0.03420	-1.039000	0.03275	-0.258000	0.10820	AGC		TCGA-IB-7651-01A-11D-2154-08	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	1	0	1	42	332	0	78	0	9.997081e-01	0	98	0	78	2		0	0	0	0	0	2	1	1	42	326	0	78	2								-20.000000	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	0.999742	0.990000	1	9.900000e-01	1
C1QL2	165257	broad.mit.edu	37	2	119914429	119914429	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119914429G>A	ENST00000272520.3	-	2	1432	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2			7					TGTTATTATTGCCTCCGTGAG	0.612000										HNSCC(49;0.14)														0							SO:0001819	synonymous_variant			ENST00000272520.3	1	1	hg19	CCDS42737.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	1	0	0	71	785	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1	71	771	0	176	2								-16.644140	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.860000	1.000000	1.000000	0.988246	0.990000	1	9.800000e-01	1
STEAP3	55240	broad.mit.edu	37	2	120003362	120003362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120003362C>T	ENST00000354888.5	+	3	794	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase			17					GAGCACTACTCTTCACTGTGC	0.572000																								0							SO:0001583	missense			ENST00000354888.5	1	1	hg19	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077011	0.55753	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.96	4.96	0.65561	NAD(P)-binding domain (1);	0.134765	0.51477	D	0.000091	T	0.62024	0.2394	M	0.78285	2.405	0.43118	D	0.994833	D;P;B	0.63880	0.993;0.952;0.296	D;P;B	0.64506	0.926;0.766;0.13	T	0.64373	-0.6423	9	.	.	.	-31.4585	13.1501	0.59484	0.0:0.8398:0.1602:0.0	.	97;107;97	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	F	97;97;97;107;97;97;97;97	ENSP00000376820:S97F;ENSP00000346961:S97F;ENSP00000396873:S97F;ENSP00000376822:S107F;ENSP00000376818:S97F;ENSP00000386510:S97F;ENSP00000376819:S97F;ENSP00000396214:S97F	.	S	+	2	0	STEAP3	119719832	0.999000	0.42202	0.986000	0.45419	0.631000	0.37964	3.669000	0.54561	2.576000	0.86940	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	1	0	1	63	149	0	37	1	9.999997e-01	14	44	0	37	2		0	0	0	0	0	2	1	1	62	148	0	36	2								-20.000000	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STEAP3	55240	broad.mit.edu	37	2	120005630	120005630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120005630C>T	ENST00000354888.5	+	4	1372	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase			17					CAAGTACCAGCGCTTCCCCGA	0.667000																								0							SO:0001583	missense			ENST00000354888.5	1	1	hg19	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276574	0.80580	0.0	1.16E-4	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	4.49	3.61	0.41365	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.993	D	0.94122	0.7380	9	.	.	.	-30.3131	13.0605	0.59003	0.1616:0.8383:0.0:0.0	.	290;300;290	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	290;290;290;300;290;290;290;290	ENSP00000376820:R290C;ENSP00000346961:R290C;ENSP00000396873:R290C;ENSP00000376822:R300C;ENSP00000376818:R290C;ENSP00000386510:R290C;ENSP00000376819:R290C;ENSP00000396214:R290C	.	R	+	1	0	STEAP3	119722100	1.000000	0.71417	0.836000	0.33094	0.963000	0.63663	4.725000	0.61979	1.107000	0.41642	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	0	0	0	11	332	0	54	0	3.416194e-01	1	34	0	54	2		0	0	0	0	0	2	1	9.983470e-01	12	329	0	50	2								-11.522040	1	1	121276	8	39	1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.480000	0.230000	1.000000	0.430000	0.570100	0.480000	0	3.300000e-01	1
PCDP1	0	broad.mit.edu	37	2	120362359	120362359	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120362359G>T	ENST00000413369.3	+	9	990	c.903G>T	c.(901-903)caG>caT	p.Q301H	PCDP1_ENST00000602047.1_Missense_Mutation_p.Q15H|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978							Colorectal(110;0.196)				CGAAGCCTCAGAAGGTGAAGG	0.453000																								0							SO:0001583	missense			ENST00000413369.3	1	0	hg19	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436252	0.25813	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20200	2.09	5.41	-1.3	0.09259	.	0.785958	0.11282	N	0.580161	T	0.13329	0.0323	L	0.34521	1.04	0.09310	N	1	B;B	0.20261	0.043;0.032	B;B	0.20955	0.032;0.013	T	0.27123	-1.0083	10	0.45353	T	0.12	-0.0024	4.6372	0.12530	0.4275:0.3016:0.2709:0.0	.	145;301	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	H	15;301	ENSP00000393222:Q301H	ENSP00000295220:Q15H	Q	+	3	2	AC069154.2	120078829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.360000	0.08138	-0.302000	0.09304	CAG		TCGA-IB-7651-01A-11D-2154-08	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1	0	0	1	115	280	0	79	0	9.024836e-01	0	12	0	79	2		0	0	0	0	0	2	1	1	114	272	0	79	2								-20.000000	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDP1	0	broad.mit.edu	37	2	120397378	120397378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120397378C>T	ENST00000413369.3	+	21	2242	c.2155C>T	c.(2155-2157)Cac>Tac	p.H719Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.H433Y	NM_001271049.1	NP_001257978							Colorectal(110;0.196)				CGGAATAATGCACTGGAAAAG	0.468000																								0							SO:0001583	missense			ENST00000413369.3	1	0	hg19	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375058	0.24857	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.13778	2.56	5.31	-2.63	0.06133	.	0.986712	0.08280	N	0.970138	T	0.07999	0.0200	N	0.14661	0.345	0.80722	D	1	P	0.45902	0.868	B	0.40134	0.32	T	0.37979	-0.9682	10	0.52906	T	0.07	-6.2867	9.6969	0.40163	0.7274:0.191:0.0:0.0816	.	719	Q4G0U5	PCDP1_HUMAN	Y	433;719	ENSP00000393222:H719Y	ENSP00000295220:H433Y	H	+	1	0	AC069154.2	120113848	0.747000	0.28283	0.977000	0.42913	0.208000	0.24298	-0.334000	0.07883	-0.266000	0.09339	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1	0	0	1	51	160	0	60	0	6.139664e-01	0	8	0	60	2		0	0	0	0	0	2	1	1	51	158	0	59	2								-4.352404	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM177	80775	broad.mit.edu	37	2	120439135	120439135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120439135G>A	ENST00000424086.1	+	2	1179	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177			13	Colorectal(110;0.196)				CCGCCGCACGGCCTCCCTCTC	0.617000																								0							SO:0001583	missense			ENST00000424086.1	1	1	hg19	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414262	0.62511	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.51574	0.7;0.7;0.7	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75357	-0.3346	10	0.87932	D	0	-1.1583	15.7392	0.77876	0.0:0.0:1.0:0.0	.	236	Q53S58	TM177_HUMAN	T	236;236;236;203	ENSP00000385966:A236T;ENSP00000402661:A236T;ENSP00000272521:A236T	ENSP00000272521:A236T	A	+	1	0	TMEM177	120155605	1.000000	0.71417	0.482000	0.27366	0.050000	0.14768	9.037000	0.93765	2.402000	0.81655	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	1	0	1	38	339	0	95	1	9.439901e-01	14	31	0	95	2		0	0	0	0	0	2	1	1	37	332	0	93	2								-20.000000	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.970000	1.000000	1.000000	0.997944	0.990000	1	9.900000e-01	1
PTPN4	5775	broad.mit.edu	37	2	120692377	120692377	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692377C>T	ENST00000263708.2	+	15	1969	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	PTPN4_ENST00000544261.1_Splice_Site_p.R33*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)			30				Alendronate(DB00630)	TTTATTTAGTCGAAATTCTAC	0.368000																								0							SO:0001630	splice_region_variant			ENST00000263708.2	0	1	hg19	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167818	0.94768	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	.	.	.	5.77	5.77	0.91146	.	0.187463	0.45126	D	0.000395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	400;33;26	.	ENSP00000263708:R400X	R	+	1	2	PTPN4	120408847	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.444000	0.66587	2.890000	0.99128	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2	0	0	0	17	188	0	35	0	9.073578e-01	0	48	0	35	2		0	0	0	0	0	2	1	9.999548e-01	16	178	0	35	2								-19.997820	1	0	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.690000	1.000000	1.000000	0.962413	0.990000	1	9.000000e-01	1
PTPN4	5775	broad.mit.edu	37	2	120692461	120692461	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692461C>T	ENST00000263708.2	+	15	2053	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)			30				Alendronate(DB00630)	TCATACTTCCCCAAGCGAAGT	0.413000																								0							SO:0001583	missense			ENST00000263708.2	1	1	hg19	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317165	0.81469	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.56103	0.48;0.48;0.48	5.75	3.88	0.44766	.	0.046193	0.85682	D	0.000000	T	0.42268	0.1195	L	0.34521	1.04	0.50171	D	0.99985	B	0.25667	0.131	B	0.25140	0.058	T	0.26916	-1.0089	10	0.45353	T	0.12	.	13.0295	0.58835	0.129:0.747:0.1239:0.0	.	428	P29074	PTN4_HUMAN	S	428;61;54	ENSP00000263708:P428S;ENSP00000445841:P61S;ENSP00000387457:P54S	ENSP00000263708:P428S	P	+	1	0	PTPN4	120408931	0.999000	0.42202	0.756000	0.31282	0.979000	0.70002	4.104000	0.57790	0.828000	0.34709	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2	1	0	1	96	248	0	51	1	9.963535e-01	5	20	0	51	2		0	0	0	0	0	2	1	1	95	243	0	51	2								-6.093464	1	0	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN4	5775	broad.mit.edu	37	2	120718447	120718447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120718447C>A	ENST00000263708.2	+	23	2969	c.2198C>A	c.(2197-2199)aCt>aAt	p.T733N	PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)			30				Alendronate(DB00630)	TTACCACACACTTGTACAGAT	0.388000																								0							SO:0001583	missense			ENST00000263708.2	1	1	hg19	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978412|4.978412	0.92982|0.92982	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	T|D;D	0.14022|0.89552	2.54|-2.53;-2.53	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97660|0.97660	0.9233|0.9233	H|H	0.99811|0.99811	4.8|4.8	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	D|D	0.99081|0.99081	1.0837|1.0837	7|10	0.72032|0.87932	D|D	0.01|0	.|.	20.0119|20.0119	0.97458|0.97458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|733	.|P29074	.|PTN4_HUMAN	Q|N	16|733;366	ENSP00000394706:H16Q|ENSP00000263708:T733N;ENSP00000445841:T366N	ENSP00000394706:H16Q|ENSP00000263708:T733N	H|T	+|+	3|2	2|0	PTPN4|PTPN4	120434917|120434917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.734000|7.734000	0.84928|0.84928	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	CAC|ACT		TCGA-IB-7651-01A-11D-2154-08	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2	1	0	1	63	520	0	113	1	9.718532e-01	7	42	0	113	2		0	0	0	0	0	2	1	1	62	512	0	113	2								-19.956050	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	0.999906	0.990000	1	9.900000e-01	1
EPB41L5	57669	broad.mit.edu	37	2	120903862	120903862	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120903862A>G	ENST00000263713.5	+	20	2004	c.1790A>G	c.(1789-1791)aAc>aGc	p.N597S	EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5			26					GCTGCCACAAACAGGTACAGT	0.318000																								0							SO:0001583	missense			ENST00000263713.5	1	1	hg19	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	7.201	0.593401	0.13875	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	T;T;T	0.80738	-1.4;-1.41;-1.4	4.9	2.35	0.29111	.	0.412471	0.25132	N	0.032889	T	0.68403	0.2997	L	0.46157	1.445	0.26220	N	0.979165	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.51252	-0.8729	10	0.20519	T	0.43	.	4.7015	0.12828	0.7389:0.0:0.0943:0.1668	.	597;597;597	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	S	597	ENSP00000263713:N597S;ENSP00000393856:N597S;ENSP00000390439:N597S	ENSP00000263713:N597S	N	+	2	0	EPB41L5	120620332	0.825000	0.29262	0.974000	0.42286	0.797000	0.45037	0.573000	0.23699	0.359000	0.24239	0.397000	0.26171	AAC		TCGA-IB-7651-01A-11D-2154-08	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	1	0	0	8	140	0	29	0	4.907046e-02	0	6	0	29	2		0	0	0	0	0	2	1	9.891153e-01	8	137	0	29	2								-12.053600	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.820000	0.360000	1.000000	1.000000	0.796909	0.820000	0	5.500000e-01	1
RALB	5899	broad.mit.edu	37	2	121047235	121047235	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121047235C>T	ENST00000272519.5	+	4	673	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RALB_ENST00000404963.3_Missense_Mutation_p.R156W|RALB_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.R135W	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B			15		Prostate(154;0.122)			CCTAGAGGAGCGGAGGCAGGT	0.547000																								0							SO:0001583	missense			ENST00000272519.5	1	1	hg19	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757807	0.89843	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.4	4.48	0.54585	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	L	0.56769	1.78	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.68765	0.96;0.948;0.942	D	0.85333	0.1091	10	0.87932	D	0	.	13.5281	0.61607	0.274:0.726:0.0:0.0	.	157;156;135	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	W	157;157;135;135;156;135	ENSP00000402866:R157W;ENSP00000438764:R157W;ENSP00000272519:R135W;ENSP00000414224:R135W;ENSP00000384328:R156W;ENSP00000398162:R135W	ENSP00000272519:R135W	R	+	1	2	RALB	120763705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.589000	0.61006	2.813000	0.96785	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	1	0	0	63	521	0	106	1	1	34	386	0	106	2		0	0	0	0	0	2	1	1	63	504	0	104	2								-19.864060	1	1	121412	1	32	1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	0.999902	0.990000	1	9.900000e-01	1
GLI2	2736	broad.mit.edu	37	2	121742107	121742107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121742107C>T	ENST00000452319.1	+	12	1804	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	GLI2_ENST00000361492.4_Missense_Mutation_p.R582W|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.R254W					GLI family zinc finger 2			64	Renal(3;0.0496)	Prostate(154;0.0623)			CAGCTCTCTCCGGAAGCATGT	0.577000																								0							SO:0001583	missense			ENST00000452319.1	1	1	hg19	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169755	0.78452	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.53640	0.61;0.61;0.61	4.48	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.52905	1.665	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	T	0.62450	-0.6852	10	0.87932	D	0	.	9.9524	0.41647	0.4156:0.5844:0.0:0.0	.	582;565;237;237;254	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	W	582;582;254	ENSP00000390436:R582W;ENSP00000354586:R582W;ENSP00000312694:R254W	ENSP00000312694:R254W	R	+	1	2	GLI2	121458577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.261000	0.58841	2.309000	0.77851	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	1	0	1	125	990	0	240	1	9.410955e-01	4	35	0	240	2		0	0	0	0	0	2	1	1	122	969	0	237	2								-2.690405	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLI2	2736	broad.mit.edu	37	2	121743937	121743937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121743937C>T	ENST00000452319.1	+	13	2100	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	GLI2_ENST00000361492.4_Silent_p.G680G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.G352G					GLI family zinc finger 2			64	Renal(3;0.0496)	Prostate(154;0.0623)			ATGACAGTGGCGTGGAGATGC	0.711000																								0							SO:0001819	synonymous_variant			ENST00000452319.1	1	1	hg19	CCDS33283.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	1	0	0	19	347	0	67	0	3.936509e-01	1	24	0	67	2		0	0	0	0	0	2	1	9.999906e-01	19	343	0	66	2								-19.829470	1	1	121390	4	35	1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.740000	0.440000	1.000000	1.000000	0.766914	0.740000	0	5.700000e-01	1
GLI2	2736	broad.mit.edu	37	2	121744055	121744055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121744055C>T	ENST00000452319.1	+	13	2218	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_ENST00000361492.4_Missense_Mutation_p.R720C|GLI2_ENST00000314490.11_Missense_Mutation_p.R392C					GLI family zinc finger 2			64	Renal(3;0.0496)	Prostate(154;0.0623)			CCTCCAGCTGCGCAAACACAT	0.657000																								0							SO:0001583	missense			ENST00000452319.1	1	1	hg19	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030883	0.75504	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18960	2.18;2.18;2.19	4.97	4.97	0.65823	.	0.052506	0.64402	D	0.000001	T	0.50820	0.1638	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.99;0.977	T	0.57579	-0.7787	10	0.87932	D	0	.	13.2166	0.59863	0.1984:0.8016:0.0:0.0	.	720;375;375;392	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	720;720;392	ENSP00000390436:R720C;ENSP00000354586:R720C;ENSP00000312694:R392C	ENSP00000312694:R392C	R	+	1	0	GLI2	121460525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.359000	0.44142	2.578000	0.87016	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	1	0	0	18	243	0	40	0	5.739272e-01	1	26	0	40	2		0	0	0	0	0	2	1	9.999817e-01	18	239	0	39	2								-19.995610	1	1	121412	2	33	1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.580000	1.000000	1.000000	0.905607	0.990000	1	7.500000e-01	1
TFCP2L1	29842	broad.mit.edu	37	2	122005784	122005784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122005784C>T	ENST00000263707.5	-	5	557	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1			22	Renal(3;0.01)				CACAAAAACTCGACTGCATTC	0.547000																								0							SO:0001583	missense			ENST00000263707.5	1	1	hg19	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743314	0.89663	.	.	ENSG00000115112	ENST00000263707	T	0.18502	2.21	4.96	4.96	0.65561	CP2 transcription factor (1);	0.116475	0.56097	N	0.000024	T	0.48132	0.1483	M	0.88377	2.95	0.80722	D	1	B;D	0.60160	0.035;0.987	B;D	0.65874	0.137;0.939	T	0.53542	-0.8424	10	0.39692	T	0.17	.	18.6315	0.91361	0.0:1.0:0.0:0.0	.	154;154	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	K	154	ENSP00000263707:E154K	ENSP00000263707:E154K	E	-	1	0	TFCP2L1	121722254	1.000000	0.71417	0.914000	0.36105	0.473000	0.32948	7.748000	0.85085	2.459000	0.83118	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	1	0	1	13	138	0	25	1	9.979922e-01	24	92	0	25	2		0	0	0	0	0	2	1	9.994167e-01	13	129	0	25	2								-3.142837	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.670000	1.000000	1.000000	0.963536	0.990000	1	9.100000e-01	1
CLASP1	23332	broad.mit.edu	37	2	122220119	122220119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122220119G>A	ENST00000263710.4	-	10	1317	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1			47	Renal(3;0.0496)				TGTACTACAGGTACATCATCA	0.313000																								0							SO:0001583	missense			ENST00000263710.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.8	4.459774	0.84317	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T;T	0.66099	-0.15;1.96;1.97;1.94;0.65;1.97;0.5;-0.19	5.13	5.13	0.70059	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.77486	2.375	0.80722	D	1	P;P;P;P	0.49559	0.877;0.925;0.9;0.917	B;P;B;P	0.47075	0.335;0.536;0.412;0.521	T	0.76274	-0.3019	10	0.87932	D	0	-0.6289	17.2951	0.87168	0.0:0.0:1.0:0.0	.	310;310;310;310	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	S	310;310;310;310;79;310;78;79;79	ENSP00000263710:P310S;ENSP00000389372:P310S;ENSP00000380717:P310S;ENSP00000441625:P310S;ENSP00000441770:P79S;ENSP00000386442:P310S;ENSP00000392886:P79S;ENSP00000402101:P79S	ENSP00000263710:P310S	P	-	1	0	CLASP1	121936589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.990000	0.76225	2.824000	0.97209	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	22	46	0	13	1	9.998483e-01	10	26	0	13	2		0	0	0	0	0	2	1	9.999997e-01	22	44	0	13	2								-20.000000	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKI67IP	0	broad.mit.edu	37	2	122489716	122489716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122489716G>T	ENST00000285814.4	-	3	380	c.308C>A	c.(307-309)gCt>gAt	p.A103D		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN				12					CATTGTTTCAGCAACTATTTT	0.463000																								0							SO:0001583	missense			ENST00000285814.4	1	1	hg19	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165049	0.78339	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000451734	T;T	0.16457	2.34;2.34	5.14	4.25	0.50352	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048198	0.85682	D	0.000000	T	0.51415	0.1673	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63528	-0.6617	10	0.87932	D	0	-17.7292	11.7232	0.51693	0.0:0.1781:0.8219:0.0	.	103;103	B4DSM4;Q9BYG3	.;MK67I_HUMAN	D	103;103;71	ENSP00000285814:A103D;ENSP00000398116:A71D	ENSP00000285814:A103D	A	-	2	0	MKI67IP	122206186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.265000	0.65519	1.153000	0.42468	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2	1	0	1	28	342	0	87	1	9.998955e-01	32	143	0	87	2		0	0	0	0	0	2	1	1	27	331	0	86	2								-8.568205	1	1	121410	2	35	1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.690000	1.000000	1.000000	0.948437	0.990000	1	8.500000e-01	1
TSN	7247	broad.mit.edu	37	2	122522723	122522723	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122522723T>C	ENST00000389682.3	+	6	714	c.467T>C	c.(466-468)gTc>gCc	p.V156A	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Silent_p.C129C|TSN_ENST00000409193.1_Missense_Mutation_p.V151A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin			12		Ovarian(717;0.0563)|Prostate(154;0.116)			AGGCTGTCTGTCAACAGCGTG	0.512000																								0							SO:0001583	missense			ENST00000389682.3	1	1	hg19	CCDS33284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436439|4.436439	0.83885|0.83885	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Translin, C-terminal (1);	.|0.055540	.|0.64402	.|D	.|0.000001	D|D	0.84750|0.84750	0.5541|0.5541	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.81914	.|0.99;0.995	D|D	0.87835|0.87835	0.2647|0.2647	5|9	.|0.72032	.|D	.|0.01	-3.0948|-3.0948	15.3851|15.3851	0.74691|0.74691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|109;156	.|B3KRM8;Q15631	.|.;TSN_HUMAN	P|A	162|156;122;151	.|.	.|ENSP00000374332:V156A	S|V	+|+	1|2	0|0	TSN|TSN	122239193|122239193	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.766000|0.766000	0.43426|0.43426	7.675000|7.675000	0.84002|0.84002	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	TCA|GTC		TCGA-IB-7651-01A-11D-2154-08	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	1	0	1	160	1485	0	308	1	1	45	262	0	308	2		0	0	0	0	0	2	1	1	159	1458	0	305	2								-20.000000	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
SNTG2	54221	broad.mit.edu	37	2	1243543	1243543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1243543G>A	ENST00000308624.5	+	11	1012	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2			52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)			CTCTCCTTCCGACCAGGTAGG	0.473000																								0							SO:0001583	missense			ENST00000308624.5	1	1	hg19	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988159	0.35036	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69040	1.6;-0.37	4.77	4.77	0.60923	.	0.106304	0.64402	D	0.000007	T	0.66117	0.2757	M	0.70595	2.14	0.58432	D	0.999992	B;B	0.28667	0.219;0.14	B;B	0.23716	0.048;0.009	T	0.67047	-0.5769	10	0.42905	T	0.14	.	16.9182	0.86157	0.0:0.0:1.0:0.0	.	168;295	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	295;168	ENSP00000311837:D295N;ENSP00000385020:D168N	ENSP00000311837:D295N	D	+	1	0	SNTG2	1226094	1.000000	0.71417	0.964000	0.40570	0.041000	0.13682	3.705000	0.54823	2.338000	0.79540	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	1	0	1	18	93	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999878e-01	18	91	0	19	2								-12.026820	1	1	121006	1	26	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999882	0.990000	1	9.900000e-01	1
CNTNAP5	129684	broad.mit.edu	37	2	124783243	124783243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:124783243C>T	ENST00000431078.1	+	1	380	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	AC079154.1_ENST00000438816.1_RNA|CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5			176					TTCTTTACCACGGCTGACCAG	0.552000																								0							SO:0001583	missense			ENST00000431078.1	1	1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707496	0.48412	.	.	ENSG00000155052	ENST00000431078	D	0.88277	-2.36	5.29	-3.8	0.04307	.	1.453780	0.04752	N	0.424658	T	0.81517	0.4839	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65158	-0.6236	10	0.87932	D	0	.	1.4909	0.02456	0.3287:0.3394:0.1712:0.1607	.	6	Q8WYK1	CNTP5_HUMAN	W	6	ENSP00000399013:R6W	ENSP00000399013:R6W	R	+	1	2	CNTNAP5	124499713	0.000000	0.05858	0.818000	0.32626	0.957000	0.61999	-1.557000	0.02166	-0.327000	0.08551	-0.268000	0.10319	CGG		TCGA-IB-7651-01A-11D-2154-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1	36	310	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	35	300	0	49	2								-13.351090	1	1	120918	1	36	1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	0.998495	0.990000	1	9.900000e-01	1
CNTNAP5	129684	broad.mit.edu	37	2	125521605	125521605	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125521605T>G	ENST00000431078.1	+	16	2775	c.2411T>G	c.(2410-2412)tTt>tGt	p.F804C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5			176					TACCTCCACTTTCCTACCTTC	0.413000																								0							SO:0001583	missense			ENST00000431078.1	1	1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.356243	0.82243	.	.	ENSG00000155052	ENST00000431078	T	0.45276	0.9	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.52532	D	0.000074	T	0.69314	0.3097	M	0.93328	3.405	0.80722	D	1	D	0.69078	0.997	P	0.57371	0.819	T	0.78902	-0.2021	10	0.87932	D	0	.	15.5036	0.75719	0.0:0.0:0.0:1.0	.	804	Q8WYK1	CNTP5_HUMAN	C	804	ENSP00000399013:F804C	ENSP00000399013:F804C	F	+	2	0	CNTNAP5	125238075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.927000	0.87577	2.263000	0.75096	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1	137	312	0	68	0	0	0	1	0	68	2		0	0	0	0	0	2	1	1	137	306	0	67	2								-20.000000	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTNAP5	129684	broad.mit.edu	37	2	125530375	125530375	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530375G>A	ENST00000431078.1	+	17	2894		c.e17-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5			176					TCCGGTTTCAGCTCCTTCAGA	0.458000																								0							SO:0001630	splice_region_variant			ENST00000431078.1	1	1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454110	0.84209	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3771	0.90439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125246845	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.304000	0.96190	2.594000	0.87642	0.645000	0.84053	.		TCGA-IB-7651-01A-11D-2154-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1	74	198	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	71	195	0	58	2								-20.000000	1	0	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTNAP5	129684	broad.mit.edu	37	2	125530402	125530402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530402G>A	ENST00000431078.1	+	17	2921	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5			176					CTTTGCCATCGATGTTGGGAA	0.502000																								0							SO:0001583	missense			ENST00000431078.1	1	1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.077372	0.76415	.	.	ENSG00000155052	ENST00000431078	T	0.79554	-1.28	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48767	D	0.000169	D	0.86606	0.5973	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85406	0.1134	10	0.41790	T	0.15	.	18.7016	0.91621	0.0:0.0:1.0:0.0	.	853	Q8WYK1	CNTP5_HUMAN	N	853	ENSP00000399013:D853N	ENSP00000399013:D853N	D	+	1	0	CNTNAP5	125246872	1.000000	0.71417	0.990000	0.47175	0.126000	0.20510	9.697000	0.98697	2.664000	0.90586	0.645000	0.84053	GAT		TCGA-IB-7651-01A-11D-2154-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	1	90	269	0	78	0	0	0	1	0	78	2		0	0	0	0	0	2	1	1	88	265	0	76	2								-5.284640	1	0	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTNAP5	129684	broad.mit.edu	37	2	125555694	125555694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125555694C>A	ENST00000431078.1	+	19	3375	c.3011C>A	c.(3010-3012)gCt>gAt	p.A1004D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5			176					GTTTTTGAGGCTGGCACGTCG	0.428000																								0							SO:0001583	missense			ENST00000431078.1	0	1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427269	0.25726	.	.	ENSG00000155052	ENST00000431078	T	0.78364	-1.17	5.93	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.132089	0.33364	N	0.004998	T	0.61540	0.2355	N	0.21194	0.64	0.09310	N	1	B	0.33583	0.418	B	0.24006	0.05	T	0.53322	-0.8455	10	0.45353	T	0.12	.	11.7401	0.51788	0.0:0.8584:0.0:0.1416	.	1004	Q8WYK1	CNTP5_HUMAN	D	1004	ENSP00000399013:A1004D	ENSP00000399013:A1004D	A	+	2	0	CNTNAP5	125272164	0.057000	0.20700	0.739000	0.30968	0.641000	0.38312	0.819000	0.27308	0.851000	0.35264	-0.136000	0.14681	GCT		TCGA-IB-7651-01A-11D-2154-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	0	31	87	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	1	29	85	0	9	2								-19.999960	1	1	0	0		1	1	3	4	2.010116	1	0.170000	2.060000	2.537313e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP27C1	339761	broad.mit.edu	37	2	127958808	127958808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:127958808C>T	ENST00000335247.7	-	3	408	c.278G>A	c.(277-279)aGc>aAc	p.S93N	CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1			16	Colorectal(110;0.1)				CTTGAACATGCTAAACATGAG	0.562000																								0							SO:0001583	missense			ENST00000335247.7	1	1	hg19	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943301	0.73672	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.69175	-0.38;-0.38	3.74	3.74	0.42951	.	0.047866	0.85682	D	0.000000	T	0.62466	0.2430	N	0.20845	0.615	0.44852	D	0.997866	D	0.56287	0.975	P	0.52856	0.711	T	0.65340	-0.6192	10	0.39692	T	0.17	-15.14	15.8937	0.79322	0.0:1.0:0.0:0.0	.	93	Q4G0S4	C27C1_HUMAN	N	93	ENSP00000334128:S93N;ENSP00000387198:S93N	ENSP00000334128:S93N	S	-	2	0	CYP27C1	127675278	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	6.364000	0.73086	1.797000	0.52628	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	0	0	1	101	542	1	136		0	0	0	1	136	2		0	0	0	0	0	2	1	1	100	536	1	135	17								-20.000000	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERCC3	2071	broad.mit.edu	37	2	128050320	128050320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128050320C>T	ENST00000285398.2	-	3	431	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	ERCC3_ENST00000493187.2_Missense_Mutation_p.V49M	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3			31	Colorectal(110;0.1)				TACTCATGCACATGGGTTGGT	0.507000			Mis, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)		E	0							SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000285398.2	1	1	hg19	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085569	0.36758	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.74002	-0.8;-0.8	4.77	4.77	0.60923	.	0.307501	0.31847	N	0.006968	T	0.56016	0.1957	N	0.21194	0.64	0.33026	D	0.529526	B	0.18461	0.028	B	0.22386	0.039	T	0.57159	-0.7859	10	0.24483	T	0.36	-26.3485	5.6572	0.17648	0.0:0.7656:0.0:0.2344	.	113	P19447	ERCC3_HUMAN	M	113;49	ENSP00000285398:V113M;ENSP00000444796:V49M	ENSP00000285398:V113M	V	-	1	0	ERCC3	127766790	0.416000	0.25424	1.000000	0.80357	0.997000	0.91878	1.073000	0.30691	2.475000	0.83589	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	1	0	1	91	294	0	82	1	1	38	64	0	82	2		0	0	0	0	0	2	1	1	91	291	0	82	2								-20.000000	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K2	10746	broad.mit.edu	37	2	128065219	128065219	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128065219A>G	ENST00000409947.1	-	17	2078	c.1796T>C	c.(1795-1797)gTa>gCa	p.V599A	MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2			7	Colorectal(110;0.1)			Bosutinib(DB06616)	TTTGGCCTCTACAAAAATCCG	0.473000																								0							SO:0001583	missense			ENST00000409947.1	0	1	hg19	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683960	0.47991	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.63744	-0.06;-0.06	5.7	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106321	0.64402	D	0.000006	T	0.49745	0.1575	L	0.42008	1.315	0.39428	D	0.967031	B	0.15473	0.013	B	0.16722	0.016	T	0.40590	-0.9555	10	0.13108	T	0.6	.	9.7683	0.40574	0.8608:0.0:0.1392:0.0	.	599	Q9Y2U5	M3K2_HUMAN	A	599	ENSP00000387246:V599A;ENSP00000343463:V599A	ENSP00000343463:V599A	V	-	2	0	MAP3K2	127781689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.321000	0.65846	1.091000	0.41335	0.528000	0.53228	GTA		TCGA-IB-7651-01A-11D-2154-08	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	1	0	1	11	41	0	11	1	9.999986e-01	29	100	0	11	2		0	0	0	0	0	2	1	9.989461e-01	11	41	0	9	2								-10.665430	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	0.999923	0.990000	1	9.900000e-01	1
MAP3K2	10746	broad.mit.edu	37	2	128088062	128088062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128088062G>A	ENST00000409947.1	-	6	566	c.284C>T	c.(283-285)aCt>aTt	p.T95I	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2			7	Colorectal(110;0.1)			Bosutinib(DB06616)	GTCATCTTGAGTAGTTAATGG	0.383000																								0							SO:0001583	missense			ENST00000409947.1	1	1	hg19	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813786	0.90790	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.23552	1.9;1.9	6.07	6.07	0.98685	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.47716	1.5	0.80722	D	1	P	0.37276	0.589	P	0.45610	0.487	T	0.03630	-1.1018	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	95	Q9Y2U5	M3K2_HUMAN	I	95	ENSP00000387246:T95I;ENSP00000343463:T95I	ENSP00000343463:T95I	T	-	2	0	MAP3K2	127804532	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	7.177000	0.77650	2.890000	0.99128	0.585000	0.79938	ACT		TCGA-IB-7651-01A-11D-2154-08	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	1	0	1	23	82	0	25	1	9.999997e-01	24	78	0	25	2		0	0	0	0	0	2	1	9.999997e-01	23	81	0	24	2								-20.000000	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROC	5624	broad.mit.edu	37	2	128186478	128186478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128186478C>T	ENST00000234071.3	+	9	1429	c.1342C>T	c.(1342-1344)Cac>Tac	p.H448Y	PROC_ENST00000453608.2_Missense_Mutation_p.H503Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000409048.1_Missense_Mutation_p.H482Y	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)			15	Colorectal(110;0.1)			Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GATCCATGGGCACATCAGAGA	0.592000																								0							SO:0001583	missense			ENST00000234071.3	1	1	hg19	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.500767	0.00157	2.27E-4	0.0	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	4.95	2.16	0.27623	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.160062	0.30043	N	0.010543	T	0.78541	0.4299	N	0.16833	0.445	0.22081	N	0.999379	B;B;B;B	0.19200	0.034;0.002;0.003;0.002	B;B;B;B	0.15052	0.012;0.002;0.005;0.002	T	0.62511	-0.6839	10	0.02654	T	1	.	4.0811	0.09927	0.2647:0.5:0.0:0.2353	.	503;504;482;448	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	Y	448;407;503;482;448	ENSP00000234071:H448Y;ENSP00000404030:H503Y;ENSP00000386679:H482Y;ENSP00000409543:H448Y	ENSP00000234071:H448Y	H	+	1	0	PROC	127902948	0.020000	0.18652	0.120000	0.21714	0.004000	0.04260	0.079000	0.14782	0.280000	0.22209	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	1	0	1	185	613	0	149	1	9.131131e-01	11	5	0	149	2		0	0	0	0	0	2	1	1	184	607	0	146	2								-20.000000	1	1	121412	1	15	1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IWS1	55677	broad.mit.edu	37	2	128252466	128252466	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128252466A>G	ENST00000295321.4	-	8	2040	c.1781T>C	c.(1780-1782)gTa>gCa	p.V594A	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)			28	Colorectal(110;0.1)				GTGCATAACTACAGCAGGCAG	0.284000																								0							SO:0001583	missense			ENST00000295321.4	1	1	hg19	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198746	0.79015	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.18016	2.24	5.82	5.82	0.92795	.	0.118708	0.56097	D	0.000027	T	0.38188	0.1031	M	0.71036	2.16	0.80722	D	1	P	0.51537	0.946	P	0.57720	0.826	T	0.11372	-1.0590	10	0.59425	D	0.04	-19.5794	16.1809	0.81898	1.0:0.0:0.0:0.0	.	594	Q96ST2	IWS1_HUMAN	A	594;547	ENSP00000295321:V594A	ENSP00000295321:V594A	V	-	2	0	IWS1	127968936	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.281000	0.95811	2.229000	0.72834	0.383000	0.25322	GTA		TCGA-IB-7651-01A-11D-2154-08	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	1	0	1	34	266	0	55	1	9.999992e-01	37	137	0	55	2		0	0	0	0	0	2	1	1	34	261	0	55	2								-20.000000	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	0.999506	0.990000	1	9.900000e-01	1
MYO7B	4648	broad.mit.edu	37	2	128366289	128366289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128366289C>T	ENST00000409816.2	+	21	2682	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	MYO7B_ENST00000428314.1_Silent_p.L884L|MYO7B_ENST00000389524.4_Silent_p.L884L			Q6PIF6	MYO7B_HUMAN	myosin VIIB			75	Colorectal(110;0.1)				GCAGGCGCCGCTGGTCATCCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000409816.2	1	1	hg19	CCDS46405.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	1	0	1	37	122	0	23	1	7.146554e-01	6	4	0	23	2		0	0	0	0	0	2	1	1	37	121	0	23	2								-20.000000	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO7B	4648	broad.mit.edu	37	2	128380907	128380907	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128380907G>T	ENST00000409816.2	+	27	3730	c.3698G>T	c.(3697-3699)aGc>aTc	p.S1233I	MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Missense_Mutation_p.S1233I|MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I			Q6PIF6	MYO7B_HUMAN	myosin VIIB			75	Colorectal(110;0.1)				CAGGGCCTCAGCGACCACCTG	0.627000																								0							SO:0001583	missense			ENST00000409816.2	1	1	hg19	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025394	0.35701	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	4.82	-5.52	0.02560	Band 4.1 domain (1);FERM domain (1);	0.720633	0.13276	N	0.400116	T	0.61553	0.2356	L	0.53249	1.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52026	-0.8630	10	0.62326	D	0.03	.	6.6697	0.23062	0.4751:0.3805:0.1445:0.0	.	1233	Q6PIF6	MYO7B_HUMAN	I	1233;1233;86;1233;86;86	ENSP00000374175:S1233I;ENSP00000415090:S1233I;ENSP00000386461:S1233I;ENSP00000404927:S86I;ENSP00000386850:S86I	ENSP00000272666:S86I	S	+	2	0	MYO7B	128097377	0.025000	0.19082	0.016000	0.15963	0.778000	0.44026	0.407000	0.21049	-0.967000	0.03582	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	1	0	1	25	132	0	28	1	8.028763e-01	9	9	0	28	2		0	0	0	0	0	2	1	9.999999e-01	23	128	0	27	2								-20.000000	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
MYO7B	4648	broad.mit.edu	37	2	128389839	128389839	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128389839C>A	ENST00000409816.2	+	37	5222	c.5190C>A	c.(5188-5190)ggC>ggA	p.G1730G	MYO7B_ENST00000428314.1_Silent_p.G1730G|MYO7B_ENST00000389524.4_Silent_p.G1731G|MYO7B_ENST00000409090.1_Silent_p.G583G			Q6PIF6	MYO7B_HUMAN	myosin VIIB			75	Colorectal(110;0.1)				AAGAGCGGGGCTGGCAGCTGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000409816.2	0	1	hg19	CCDS46405.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	0	0	0	9	222	0	38	1	3.798192e-01	2	29	0	38	2		0	0	0	0	0	2	1	9.936504e-01	8	216	0	36	2								-11.323240	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.590000	0.270000	1.000000	0.500000	0.649269	0.590000	0	4.000000e-01	1
GPR17	2840	broad.mit.edu	37	2	128408687	128408687	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128408687C>T	ENST00000272644.3	+	3	536	c.462C>T	c.(460-462)agC>agT	p.S154S	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Silent_p.S154S|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17			19	Colorectal(110;0.1)	Ovarian(717;0.15)			CCTGCATCAGCGCCGACCGTT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000272644.3	1	1	hg19	CCDS2148.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1	1	0	0	63	688	0	105	0	0	0	1	0	105	2		0	0	0	0	0	2	1	1	61	673	0	102	2								-15.393410	1	1	121412	2	39	1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.860000	1.000000	1.000000	0.988798	0.990000	1	9.900000e-01	1
LIMS2	55679	broad.mit.edu	37	2	128412001	128412001	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128412001C>T	ENST00000355119.4	-	4	521	c.356G>A	c.(355-357)gGc>gAc	p.G119D	LIMS2_ENST00000409455.1_Missense_Mutation_p.G114D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D|LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2			15	Colorectal(110;0.1)				ACCTCACCTGCCGGCATTCTT	0.632000																								0							SO:0001583	missense			ENST00000355119.4	1	1	hg19	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	19.29	3.799268	0.70567	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.37	5.37	0.77165	Zinc finger, LIM-type (4);	0.106914	0.64402	D	0.000004	D	0.92678	0.7673	M	0.63428	1.95	0.80722	D	1	P;D;D	0.63046	0.875;0.983;0.992	P;P;P	0.59357	0.614;0.836;0.856	D	0.92089	0.5679	10	0.44086	T	0.13	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	141;119;143	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	D	141;119;143;114;114;114;114;141;114	ENSP00000443794:G141D;ENSP00000347240:G119D;ENSP00000326888:G143D;ENSP00000386383:G114D;ENSP00000386637:G114D;ENSP00000387002:G114D	ENSP00000326888:G143D	G	-	2	0	LIMS2	128128471	1.000000	0.71417	0.909000	0.35828	0.102000	0.19082	5.983000	0.70540	2.523000	0.85059	0.609000	0.83330	GGC		TCGA-IB-7651-01A-11D-2154-08	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	1	0	1	90	418	0	88	0	9.999995e-01	0	98	0	88	2		0	0	0	0	0	2	1	1	90	413	0	86	2								-20.000000	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR33	55339	broad.mit.edu	37	2	128471362	128471362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128471362G>A	ENST00000322313.4	-	18	3261	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33			39	Colorectal(110;0.1)				GGTCCTCCTCGCCCCTCAAAT	0.617000																								0							SO:0001587	stop_gained			ENST00000322313.4	0	1	hg19	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	41	9.042449	0.99046	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	4.86	0.63082	.	0.068596	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.982	13.5976	0.62000	0.0:0.0:0.7371:0.2629	.	.	.	.	X	1035	.	ENSP00000325377:R1035X	R	-	1	2	WDR33	128187832	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.170000	0.31883	2.738000	0.93877	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	1	0	1	216	1111	0	208	1	9.999926e-01	2	82	0	208	2		0	0	0	0	0	2	1	1	209	1092	0	207	2								-20.000000	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR33	55339	broad.mit.edu	37	2	128528552	128528552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528552C>T	ENST00000322313.4	-	2	162	c.4G>A	c.(4-6)Gct>Act	p.A2T	WDR33_ENST00000393006.1_Missense_Mutation_p.A2T|WDR33_ENST00000409658.3_Missense_Mutation_p.A2T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33			39	Colorectal(110;0.1)				ATTTCTGTAGCCATGGTGATG	0.408000																								0							SO:0001583	missense			ENST00000322313.4	1	1	hg19	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736203	0.89482	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.54	5.54	0.83059	.	0.101382	0.64402	D	0.000002	T	0.56381	0.1981	N	0.08118	0	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.74674	0.981;0.971;0.984	T	0.67133	-0.5747	10	0.87932	D	0	-10.2911	19.4948	0.95067	0.0:1.0:0.0:0.0	.	2;2;2	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	T	2	ENSP00000325377:A2T;ENSP00000376730:A2T;ENSP00000387186:A2T;ENSP00000386861:A2T	ENSP00000325377:A2T	A	-	1	0	WDR33	128245022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	1	0	1	34	181	0	36	1	9.999987e-01	22	94	0	36	2		0	0	0	0	0	2	1	1	33	178	0	36	2								-20.000000	1	0	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
AMMECR1L	83607	broad.mit.edu	37	2	128622692	128622692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128622692C>T	ENST00000272647.5	-	8	1169	c.909G>A	c.(907-909)ccG>ccA	p.P303P	AMMECR1L_ENST00000393001.1_Silent_p.P303P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like			9	Colorectal(110;0.1)				TGTAGAGGGGCGGGGCATGAA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000272647.5	1	1	hg19	CCDS2152.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	0	0	1	51	604	0	156	1	9.464073e-01	9	50	0	156	2		0	0	0	0	0	2	1	1	48	563	0	147	2								-11.687270	1	0	121412	1	37	1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.780000	1.000000	1.000000	0.968780	0.990000	1	9.100000e-01	1
AMMECR1L	83607	broad.mit.edu	37	2	128627035	128627035	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128627035C>A	ENST00000272647.5	-	6	977	c.717G>T	c.(715-717)aaG>aaT	p.K239N	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like			9	Colorectal(110;0.1)				CACCTTGTTCCTTAGCAACCT	0.408000																								0							SO:0001583	missense			ENST00000272647.5	1	1	hg19	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693364	0.48202	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	4.52	0.55395	AMMECR1 domain (2);	0.063723	0.64402	D	0.000005	T	0.58018	0.2093	M	0.63843	1.955	0.51233	D	0.999914	B	0.23540	0.087	B	0.28784	0.094	T	0.53486	-0.8432	9	0.22109	T	0.4	-4.9988	11.3608	0.49642	0.0:0.8541:0.0:0.1459	.	239	Q6DCA0	AMERL_HUMAN	N	239	.	ENSP00000272647:K239N	K	-	3	2	AMMECR1L	128343505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.779000	0.55379	1.422000	0.47177	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	1	0	1	112	335	0	85	1	9.997355e-01	13	26	0	85	2		0	0	0	0	0	2	1	1	110	329	0	84	2								-5.155553	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMMECR1L	83607	broad.mit.edu	37	2	128628468	128628468	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128628468G>T	ENST00000272647.5	-	5	813	c.553C>A	c.(553-555)Cga>Aga	p.R185R	AMMECR1L_ENST00000393001.1_Silent_p.R185R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	p.R185*(1)		9	Colorectal(110;0.1)				AGCTCCTCTCGGGTCAGGGGG	0.532000																								1	Substitution - Nonsense(1)						SO:0001819	synonymous_variant			ENST00000272647.5	0	1	hg19	CCDS2152.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	0	0	0	7	173	0	23	1	6.164645e-01	2	48	0	23	2		0	0	0	0	0	2	1	9.788194e-01	7	167	0	23	2								-2.892586	1	1	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.600000	0.250000	1.000000	1.000000	0.656843	0.600000	0	3.900000e-01	1
SAP130	79595	broad.mit.edu	37	2	128699597	128699597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128699597G>A	ENST00000259235.3	-	20	3259	c.3130C>T	c.(3130-3132)Cga>Tga	p.R1044*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.R1079*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.R1052*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa			45	Colorectal(110;0.1)				TTTTCCTTTCGCTTCAATTTG	0.428000																								0							SO:0001587	stop_gained			ENST00000259235.3	0	1	hg19	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	.	35	5.482949	0.96307	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	4.22	0.49857	.	0.175533	0.51477	D	0.000088	.	.	.	.	.	.	0.38751	D	0.954104	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4403	12.2802	0.54759	0.0657:0.0:0.7579:0.1764	.	.	.	.	X	1079;1044;1052	.	ENSP00000259234:R1052X	R	-	1	2	SAP130	128416067	1.000000	0.71417	0.998000	0.56505	0.001000	0.01503	5.117000	0.64667	1.632000	0.50472	-0.140000	0.14226	CGA		TCGA-IB-7651-01A-11D-2154-08	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	1	0	1	112	589	0	91	1	9.999999e-01	25	96	0	91	2		0	0	0	0	0	2	1	1	111	573	0	91	2								-20.000000	1	1	121410	1	29	1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAP130	79595	broad.mit.edu	37	2	128747250	128747250	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747250C>T	ENST00000259235.3	-	13	1875	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	SAP130_ENST00000357702.5_Silent_p.Q582Q|SAP130_ENST00000259234.6_Silent_p.Q556Q	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa			45	Colorectal(110;0.1)				GTGGTGCAGGCTGTATCCCTG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000259235.3	1	1	hg19	CCDS2153.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	1	0	1	66	407	0	56	1	9.997622e-01	16	61	0	56	2		0	0	0	0	0	2	1	1	65	397	0	55	2								-20.000000	1	0	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAP130	79595	broad.mit.edu	37	2	128747261	128747261	+	Missense_Mutation	SNP	G	G	A	rs111795237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747261G>A	ENST00000259235.3	-	13	1864	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	SAP130_ENST00000357702.5_Missense_Mutation_p.P579S|SAP130_ENST00000259234.6_Missense_Mutation_p.P553S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa			45	Colorectal(110;0.1)				TGTATCCCTGGGGTCCCAATG	0.572000																								0							SO:0001583	missense			ENST00000259235.3	1	1	hg19	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526128	0.44969	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	4.67	0.58626	.	0.188036	0.52532	N	0.000062	T	0.30070	0.0753	N	0.08118	0	0.35563	D	0.804872	B;B;B;B;B	0.21309	0.023;0.0;0.001;0.054;0.004	B;B;B;B;B	0.20577	0.01;0.0;0.002;0.03;0.022	T	0.27020	-1.0086	9	0.08599	T	0.76	-3.5579	13.5288	0.61611	0.0762:0.0:0.9238:0.0	.	579;552;579;109;217	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	S	579;579;553	.	ENSP00000259234:P553S	P	-	1	0	SAP130	128463731	1.000000	0.71417	0.311000	0.25182	0.867000	0.49689	7.421000	0.80204	1.306000	0.44926	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	1	0	1	62	410	0	72	1	9.992373e-01	12	60	0	72	2		0	0	0	0	0	2	1	1	62	397	0	70	2								-2.744786	1	0	0	0		1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIB2	28951	broad.mit.edu	37	2	12880819	12880819	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:12880819G>A	ENST00000155926.4	+	3	2350	c.931G>A	c.(931-933)Gat>Aat	p.D311N	TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	NM_021643.3	NP_067675.1			tribbles pseudokinase 2			19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GTTTTCTACAGATTTTAGCGT	0.527000																								0							SO:0001583	missense			ENST00000155926.4	1	1	hg19	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312466	0.40895	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.48836	0.82;0.8	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.212067	0.49916	D	0.000128	T	0.33847	0.0877	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.07290	-1.0780	10	0.27785	T	0.31	-21.7034	19.354	0.94404	0.0:0.0:1.0:0.0	.	311	Q92519	TRIB2_HUMAN	N	311;175	ENSP00000155926:D311N;ENSP00000370874:D175N	ENSP00000155926:D311N	D	+	1	0	TRIB2	12798270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.573000	0.82421	2.820000	0.97059	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	1	0	1	87	219	0	65	1	1	28	97	0	65	2		0	0	0	0	0	2	1	1	86	216	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGGT1	56886	broad.mit.edu	37	2	128927887	128927887	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128927887G>T	ENST00000259253.6	+	27	2994	c.2947G>T	c.(2947-2949)Ggg>Tgg	p.G983W	UGGT1_ENST00000375990.3_Missense_Mutation_p.G959W	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1			63					GCCGAAGGAAGGGGAGACATA	0.443000																								0							SO:0001583	missense			ENST00000259253.6	1	1	hg19	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232550	0.79688	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.30448	1.53;1.53	6.17	4.04	0.47022	.	0.204121	0.52532	N	0.000075	T	0.45975	0.1369	L	0.55481	1.735	0.50467	D	0.999876	D;D	0.56035	0.971;0.974	P;D	0.63877	0.649;0.919	T	0.34925	-0.9809	9	.	.	.	.	12.3439	0.55109	0.0698:0.0:0.8083:0.122	.	959;983	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	W	959;983	ENSP00000365158:G959W;ENSP00000259253:G983W	.	G	+	1	0	UGGT1	128644357	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	5.106000	0.64597	1.584000	0.49913	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	1	0	1	35	219	0	47	1	9.999972e-01	19	108	0	47	2		0	0	0	0	0	2	1	1	35	216	0	47	2								-2.622396	1	1	121412	1	29	1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
HS6ST1	9394	broad.mit.edu	37	2	129026007	129026007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026007G>A	ENST00000259241.6	-	2	978	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1			15	Colorectal(110;0.1)				GCCCGCCCGCGTGCTATTGTA	0.602000																								0							SO:0001583	missense			ENST00000259241.6	1	1	hg19	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874780	0.72180	0.0	1.18E-4	ENSG00000136720	ENST00000259241	T	0.76060	-0.99	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.88433	0.6435	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90425	0.4420	9	.	.	.	-1.3832	17.8351	0.88693	0.0:0.0:1.0:0.0	.	322	O60243	H6ST1_HUMAN	M	322	ENSP00000259241:T322M	.	T	-	2	0	HS6ST1	128742477	1.000000	0.71417	0.934000	0.37439	0.537000	0.34900	7.570000	0.82390	2.203000	0.70933	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	1	0	0	66	206	0	39	1	1	32	182	0	39	2		0	0	0	0	0	2	1	1	64	203	0	38	2								-20.000000	1	0	121160	2	35	1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HS6ST1	9394	broad.mit.edu	37	2	129026052	129026052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026052G>A	ENST00000259241.6	-	2	933	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1			15	Colorectal(110;0.1)				GAGGTTGAACGTCCGCTCGAA	0.627000																								0							SO:0001583	missense			ENST00000259241.6	1	1	hg19	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874990	0.72180	2.39E-4	0.0	ENSG00000136720	ENST00000259241	D	0.84589	-1.87	4.78	4.78	0.61160	.	0.047862	0.85682	N	0.000000	D	0.91085	0.7194	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90815	0.4704	9	.	.	.	0.0782	17.8351	0.88693	0.0:0.0:1.0:0.0	.	307	O60243	H6ST1_HUMAN	M	307	ENSP00000259241:T307M	.	T	-	2	0	HS6ST1	128742522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.439000	0.97543	2.203000	0.70933	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	1	0	0	34	141	0	23	1	9.999999e-01	26	85	0	23	2		0	0	0	0	0	2	1	1	32	122	0	30	2								-20.000000	1	0	120978	3	27	1	1	3	4	2.202051	1	0.170000	2.060000	2.548703e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB6C	84084	broad.mit.edu	37	2	130738170	130738170	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130738170A>G	ENST00000410061.2	+	1	936	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family			5	Colorectal(110;0.1)				AAAGCTGGATACAATGTAAAG	0.468000																								0							SO:0001583	missense			ENST00000410061.2	0	1	hg19	CCDS46408.1	.	.	.	.	.	.	.	.	.	.	.	9.317	1.057016	0.19907	.	.	ENSG00000222014	ENST00000410061	T	0.80123	-1.34	0.652	0.652	0.17823	Small GTP-binding protein domain (1);	.	.	.	.	T	0.70159	0.3192	L	0.44542	1.39	0.44508	D	0.997451	B	0.26081	0.141	B	0.27796	0.083	T	0.65792	-0.6082	9	0.72032	D	0.01	-2.6348	5.6347	0.17530	0.9999:0.0:1.0E-4:0.0	.	161	Q9H0N0	RAB6C_HUMAN	C	161	ENSP00000387307:Y161C	ENSP00000387307:Y161C	Y	+	2	0	RAB6C	130454640	1.000000	0.71417	0.011000	0.14972	0.338000	0.28826	3.269000	0.51592	0.537000	0.28751	0.102000	0.15555	TAC		TCGA-IB-7651-01A-11D-2154-08	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	1	0	0	41	377	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	37	325	0	183	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.950000	1.000000	1.000000	0.997373	0.990000	1	9.900000e-01	1
POTEF	728378	broad.mit.edu	37	2	130877873	130877873	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130877873G>A	ENST00000409914.2	-	3	615	c.216C>T	c.(214-216)tgC>tgT	p.C72C	POTEF_ENST00000357462.5_Silent_p.C72C|POTEF_ENST00000361163.4_Silent_p.C72C|POTEF_ENST00000360967.5_Silent_p.C72C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F			53					CACTCCCCCTGCAGCAGGGGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000409914.2	1	1	hg19	CCDS46409.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	0	0	0	55	1315	0	303		0	0	0	0	303	2		0	0	0	0	0	2	1	1	45	1066	0	341	2								-4.461250	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.540000	0.400000	1.000000	0.520000	0.635668	0.540000	0	4.600000e-01	1
SMPD4	55627	broad.mit.edu	37	2	130925111	130925111	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130925111T>G	ENST00000409031.1	-	9	1977	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000473720.1_5'UTR	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)			29	Colorectal(110;0.1)			Phosphatidylserine(DB00144)	ATGTGTCGCTTTAGGAGGCTA	0.557000																								0							SO:0001583	missense			ENST00000409031.1	1	1	hg19	CCDS42751.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	21.6|21.6|21.6	4.170904|4.170904|4.170904	0.78452|0.78452|0.78452	.|.|.	.|.|.	ENSG00000136699|ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000339679;ENST00000451542|ENST00000430682|ENST00000439886	.|.|.	.|.|.	.|.|.	3.87|3.87|3.87	3.87|3.87|3.87	0.44632|0.44632|0.44632	.|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|.	0.70859|0.70859|.	0.3272|0.3272|.	M|M|M	0.75447|0.75447|0.75447	2.3|2.3|2.3	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;P;D|.|.	0.63046|.|.	0.066;0.138;0.026;0.492;0.992|.|.	B;B;B;B;P|.|.	0.59171|.|.	0.044;0.073;0.038;0.245;0.853|.|.	T|T|.	0.71076|0.71076|.	-0.4697|-0.4697|.	9|6|.	0.48119|.|.	T|.|.	0.1|.|.	.|.|.	10.6337|10.6337|10.6337	0.45551|0.45551|0.45551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	204;164;238;238;277|.|.	E7ESA2;B4E0T5;Q9NXE4-2;Q9NXE4;B1PBA3|.|.	.;.;.;NSMA3_HUMAN;.|.|.	Q|T|Y	277;277;204;164;54|66|105	.|.|.	ENSP00000339721:K164Q|.|.	K|K|X	-|-|-	1|2|3	0|0|2	SMPD4|SMPD4|SMPD4	130641581|130641581|130641581	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	7.375000|7.375000|7.375000	0.79646|0.79646|0.79646	1.378000|1.378000|1.378000	0.46305|0.46305|0.46305	0.379000|0.379000|0.379000	0.24179|0.24179|0.24179	AAG|AAA|TAA		TCGA-IB-7651-01A-11D-2154-08	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	1	0	1	34	289	0	52	1	9.999626e-01	23	111	0	52	2		0	0	0	0	0	2	1	1	34	281	0	50	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.998452	0.990000	1	9.900000e-01	1
TUBA3E	112714	broad.mit.edu	37	2	130949639	130949639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130949639C>T	ENST00000312988.7	-	5	1218	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e			28	Colorectal(110;0.1)				GCACACGGCCCGCTGCACCTT	0.607000																								0							SO:0001583	missense			ENST00000312988.7	1	1	hg19	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.562135	0.45590	.	.	ENSG00000152086	ENST00000312988	D	0.84660	-1.88	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.118605	0.29838	U	0.011066	D	0.86012	0.5831	M	0.85299	2.745	0.45015	D	0.998032	B	0.20550	0.046	B	0.26310	0.068	D	0.86632	0.1886	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	373	Q6PEY2	TBA3E_HUMAN	Q	373	ENSP00000318197:R373Q	ENSP00000318197:R373Q	R	-	2	0	TUBA3E	130666109	0.956000	0.32656	1.000000	0.80357	0.910000	0.53928	2.209000	0.42806	1.668000	0.50843	0.455000	0.32223	CGG		TCGA-IB-7651-01A-11D-2154-08	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	1	0	0	71	456	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	54	354	0	110	2								-2.690428	1	1	121382	14	42	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBA3E	112714	broad.mit.edu	37	2	130951729	130951729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951729C>T	ENST00000312988.7	-	4	786	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e			28	Colorectal(110;0.1)				CCCAATCAGGCGATTGAGGTT	0.537000																								0							SO:0001583	missense			ENST00000312988.7	1	1	hg19	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.852325	0.32699	.	.	ENSG00000152086	ENST00000312988	T	0.68331	-0.32	2.92	2.92	0.33932	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.48286	U	0.000197	T	0.66684	0.2814	L	0.31664	0.95	0.44668	D	0.997653	D	0.69078	0.997	P	0.59056	0.851	T	0.70846	-0.4761	10	0.87932	D	0	.	11.6717	0.51406	0.0:1.0:0.0:0.0	.	229	Q6PEY2	TBA3E_HUMAN	H	229	ENSP00000318197:R229H	ENSP00000318197:R229H	R	-	2	0	TUBA3E	130668199	0.884000	0.30299	0.597000	0.28824	0.135000	0.20990	3.087000	0.50167	1.664000	0.50801	0.449000	0.29647	CGC		TCGA-IB-7651-01A-11D-2154-08	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	0	0	0	27	745	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	9.999998e-01	26	657	0	178	2								-3.586521	1	1	121408	2	33	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.490000	0.310000	1.000000	0.460000	0.588099	0.490000	0	3.900000e-01	1
CCDC115	84317	broad.mit.edu	37	2	131096740	131096740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131096740G>A	ENST00000259229.2	-	5	719	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115			7	Colorectal(110;0.1)				TGGAGTCCCCGGAGCTGGCTT	0.612000																								0							SO:0001583	missense			ENST00000259229.2	0	1	hg19	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317111	0.60524	2.27E-4	0.0	ENSG00000136710	ENST00000259229;ENST00000409127	D;D	0.94758	-3.51;-3.51	4.0	2.15	0.27550	.	0.433514	0.22936	N	0.053855	D	0.94315	0.8173	L	0.54323	1.7	0.45415	D	0.998395	D;D	0.71674	0.998;0.998	P;P	0.62491	0.742;0.903	D	0.92059	0.5655	10	0.72032	D	0.01	.	4.775	0.13175	0.1113:0.0:0.6762:0.2125	.	166;161	Q96NT0;B8ZZ99	CC115_HUMAN;.	W	166;161	ENSP00000259229:R166W;ENSP00000387301:R161W	ENSP00000259229:R166W	R	-	1	2	CCDC115	130813210	0.017000	0.18338	0.679000	0.29978	0.920000	0.55202	1.376000	0.34306	0.620000	0.30215	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	0	0	0	7	240	0	59	1	9.937825e-01	12	315	0	59	2		0	0	0	0	0	2	1	9.801833e-01	6	238	0	59	2								-3.115378	1	1	121412	3	35	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.440000	0.180000	1.000000	0.360000	0.544513	0.440000	0	2.800000e-01	1
GPR148	344561	broad.mit.edu	37	2	131486869	131486869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486869C>A	ENST00000309926.4	+	1	227	c.145C>A	c.(145-147)Ctg>Atg	p.L49M		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148			27	Colorectal(110;0.1)				CAGCTCCATGCTGTACTGGCT	0.637000																								0							SO:0001583	missense			ENST00000309926.4	1	1	hg19	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	16.89	3.247744	0.59103	.	.	ENSG00000173302	ENST00000309926	T	0.38401	1.14	2.77	2.77	0.32553	.	0.000000	0.38381	U	0.001712	T	0.35307	0.0927	N	0.08118	0	0.27795	N	0.942698	D	0.89917	1.0	D	0.83275	0.996	T	0.18618	-1.0331	10	0.32370	T	0.25	-4.6591	11.7043	0.51590	0.0:1.0:0.0:0.0	.	49	Q8TDV2	GP148_HUMAN	M	49	ENSP00000308908:L49M	ENSP00000308908:L49M	L	+	1	2	GPR148	131203339	0.990000	0.36364	0.149000	0.22428	0.139000	0.21198	2.612000	0.46343	1.496000	0.48567	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	0	0	1	94	246	1	53	0	0	0	1	1	53	2		0	0	0	0	0	2	1	1	92	242	1	53	20								-20.000000	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR148	344561	broad.mit.edu	37	2	131487621	131487621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131487621G>A	ENST00000309926.4	+	1	979	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148			27	Colorectal(110;0.1)				CTCACACATGGCTCCTGGCAG	0.572000																								0							SO:0001587	stop_gained			ENST00000309926.4	0	1	hg19	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.082396	0.76528	.	.	ENSG00000173302	ENST00000309926	.	.	.	3.17	3.17	0.36434	.	0.000000	0.56097	U	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.9475	12.1529	0.54059	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000308908:W299X	W	+	3	0	GPR148	131204091	1.000000	0.71417	0.890000	0.34922	0.526000	0.34562	4.537000	0.60643	1.506000	0.48736	0.462000	0.41574	TGG		TCGA-IB-7651-01A-11D-2154-08	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	1	0	0	41	402	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	1	40	392	0	97	2								-12.977260	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.900000	1.000000	1.000000	0.994225	0.990000	1	9.900000e-01	1
ARHGEF4	50649	broad.mit.edu	37	2	131797660	131797660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131797660C>T	ENST00000326016.5	+	7	1338	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ARHGEF4_ENST00000355771.3_Silent_p.G202G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000392953.3_Silent_p.G273G|ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000439368.2_3'UTR	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4			29		Prostate(154;0.055)			CGGAGGACGGCGGGGCGGAGG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000326016.5	1	1	hg19	CCDS2165.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4	1	0	1	37	74	0	15	1	9.903160e-01	10	8	0	15	2		0	0	0	0	0	2	1	1	37	71	0	15	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM168B	130074	broad.mit.edu	37	2	131813237	131813237	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131813237G>A	ENST00000409185.1	-	4	293	c.186C>T	c.(184-186)tcC>tcT	p.S62S	FAM168B_ENST00000389915.3_Silent_p.S62S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B			5					TGGGGGAACAGGACACTTTGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000409185.1	1	1	hg19	CCDS42755.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	1	0	1	18	201	0	40	1	9.992097e-01	18	115	0	40	2		0	0	0	0	0	2	1	9.999849e-01	19	199	0	40	2								-19.999880	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.690000	1.000000	1.000000	0.961311	0.990000	1	8.900000e-01	1
POTEE	445582	broad.mit.edu	37	2	131984434	131984434	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131984434A>C	ENST00000356920.5	+	4	943	c.849A>C	c.(847-849)caA>caC	p.Q283H	POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H|RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E								TACATGAGCAAAAACAGCAAG	0.323000																								0							SO:0001583	missense			ENST00000356920.5	0	1	hg19	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249627	0.22880	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.53206	0.63;0.63	1.16	-1.78	0.07957	Ankyrin repeat-containing domain (4);	1.304430	0.06078	U	0.661422	T	0.24736	0.0600	N	0.17082	0.46	0.09310	N	1	P	0.44309	0.832	B	0.34824	0.19	T	0.17018	-1.0383	10	0.87932	D	0	.	3.0083	0.06035	0.3104:0.3972:0.2924:0.0	.	283	Q6S8J3	POTEE_HUMAN	H	283;293	ENSP00000439189:Q283H;ENSP00000443049:Q293H	ENSP00000439189:Q283H	Q	+	3	2	AC131180.1	131700904	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-1.876000	0.01633	-0.490000	0.06707	0.136000	0.15936	CAA		TCGA-IB-7651-01A-11D-2154-08	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	115	594	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1	92	414	0	198	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBA3D	113457	broad.mit.edu	37	2	132237733	132237733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237733G>A	ENST00000321253.6	+	4	574	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d			32					CTCATGGAGCGGCTCTCAGTG	0.587000													Ovarian(137;2059 2432 35543 39401)											0							SO:0001583	missense			ENST00000321253.6	1	1	hg19	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.604006	0.28534	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.71341	-0.56	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46758	U	0.000277	T	0.64670	0.2619	M	0.78801	2.425	0.43740	D	0.996237	P	0.40332	0.713	B	0.31495	0.131	T	0.70949	-0.4733	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	156	Q13748	TBA3C_HUMAN	Q	156	ENSP00000326042:R156Q	ENSP00000326042:R156Q	R	+	2	0	TUBA3D	131954203	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	8.151000	0.89636	1.243000	0.43853	0.194000	0.17425	CGG		TCGA-IB-7651-01A-11D-2154-08	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	1	0	0	191	556	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1	172	508	0	167	2								-6.881325	1	0	121412	1	36	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBA3D	113457	broad.mit.edu	37	2	132237952	132237952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237952G>A	ENST00000321253.6	+	4	793	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d			32					AACCTCAATCGCCTGATTGGG	0.527000													Ovarian(137;2059 2432 35543 39401)											0							SO:0001583	missense			ENST00000321253.6	0	1	hg19	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	6.726	0.502690	0.12822	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.68331	-0.32	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.43416	U	0.000563	T	0.50956	0.1646	L	0.31664	0.95	0.43622	D	0.996002	P	0.35656	0.514	B	0.34093	0.175	T	0.57329	-0.7830	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	229	Q13748	TBA3C_HUMAN	H	229	ENSP00000326042:R229H	ENSP00000326042:R229H	R	+	2	0	TUBA3D	131954422	1.000000	0.71417	0.641000	0.29422	0.156000	0.22039	5.292000	0.65673	1.243000	0.43853	0.194000	0.17425	CGC		TCGA-IB-7651-01A-11D-2154-08	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	0	0	0	28	617	1	110	0	0	0	1	1	110	2		0	0	0	0	0	2	1	9.711862e-01	23	502	1	159	13								-4.566481	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.610000	0.390000	1.000000	0.560000	0.675078	0.610000	0	4.800000e-01	1
CCDC74A	90557	broad.mit.edu	37	2	132287250	132287250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132287250C>T	ENST00000295171.6	+	2	419	c.281C>T	c.(280-282)aCa>aTa	p.T94I	CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I|CCDC74A_ENST00000467992.2_5'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A			19					ATGAATCAGACATCACAGAAG	0.527000																								0							SO:0001583	missense			ENST00000295171.6	1	1	hg19	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	8.521	0.868682	0.17322	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330	T;T;T	0.48836	0.89;0.89;0.8	2.88	1.67	0.24075	.	0.352407	0.22562	U	0.058455	T	0.23532	0.0569	N	0.08118	0	0.80722	D	1	P;B;B	0.41910	0.764;0.131;0.277	B;B;B	0.38500	0.275;0.062;0.143	T	0.03840	-1.0999	10	0.56958	D	0.05	-9.7791	6.0112	0.19578	0.7222:0.2778:0.0:0.0	.	94;94;94	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	I	94;94;89	ENSP00000295171:T94I;ENSP00000387009:T94I;ENSP00000406839:T89I	ENSP00000295171:T94I	T	+	2	0	CCDC74A	132003720	0.973000	0.33851	0.267000	0.24556	0.598000	0.36846	1.220000	0.32491	0.152000	0.19188	0.194000	0.17425	ACA		TCGA-IB-7651-01A-11D-2154-08	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	1	0	0	30	312	0	74	0	9.750861e-01	0	64	0	74	2		0	0	0	0	1	2	1	1	30	303	0	74	2								-10.332960	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.810000	1.000000	1.000000	0.984239	0.990000	1	9.900000e-01	1
CCDC74A	90557	broad.mit.edu	37	2	132289243	132289243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132289243C>T	ENST00000295171.6	+	4	689	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V|CCDC74A_ENST00000467992.2_Missense_Mutation_p.A286V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A			19					CAAGGCAAGGCCAGGCCCCAG	0.577000																								0							SO:0001583	missense			ENST00000295171.6	1	1	hg19	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.100255	0.37048	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.57752	1.7;1.66;0.48;0.38	2.13	1.21	0.21127	.	0.703582	0.12409	N	0.471404	T	0.48205	0.1487	M	0.62723	1.935	0.09310	N	0.999999	P;P	0.46512	0.775;0.879	B;P	0.45167	0.436;0.472	T	0.41592	-0.9500	10	0.51188	T	0.08	-5.0991	4.0344	0.09724	0.0:0.7793:0.0:0.2207	.	118;184	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	V	184;118;113;286	ENSP00000295171:A184V;ENSP00000387009:A118V;ENSP00000406839:A113V;ENSP00000444610:A286V	ENSP00000295171:A184V	A	+	2	0	CCDC74A	132005713	0.099000	0.21834	0.997000	0.53966	0.743000	0.42351	-0.591000	0.05753	1.192000	0.43071	0.194000	0.17425	GCC		TCGA-IB-7651-01A-11D-2154-08	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	1	0	0	54	158	0	54	1	9.999980e-01	16	46	0	54	2		0	0	0	0	0	2	1	1	43	139	0	68	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC74A	90557	broad.mit.edu	37	2	132290261	132290261	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290261C>A	ENST00000295171.6	+	5	921	c.783C>A	c.(781-783)atC>atA	p.I261I	CCDC74A_ENST00000409856.3_Silent_p.I195I|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A			19					CCCCAATGATCCTGCCCCTTC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000295171.6	1	1	hg19	CCDS2167.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	1	0	0	72	738	0	128	1	9.530576e-01	5	48	0	128	2		0	0	0	0	0	2	1	1	70	682	0	144	2								-18.640000	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.930000	1.000000	1.000000	0.995994	0.990000	1	9.900000e-01	1
GPR39	2863	broad.mit.edu	37	2	133402688	133402688	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402688A>G	ENST00000329321.3	+	2	1340	c.871A>G	c.(871-873)Aca>Gca	p.T291A	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39			22					GATTGTTGTGACATTGGCCGT	0.493000																								0							SO:0001583	missense			ENST00000329321.3	1	1	hg19	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	A	4.756	0.140647	0.09083	.	.	ENSG00000183840	ENST00000329321	T	0.71103	-0.54	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.247415	0.41396	D	0.000889	T	0.44993	0.1320	N	0.04245	-0.25	0.80722	D	1	P	0.40282	0.711	B	0.37346	0.247	T	0.55945	-0.8060	10	0.02654	T	1	.	15.4493	0.75259	1.0:0.0:0.0:0.0	.	291	O43194	GPR39_HUMAN	A	291	ENSP00000327417:T291A	ENSP00000327417:T291A	T	+	1	0	GPR39	133119158	1.000000	0.71417	0.986000	0.45419	0.650000	0.38633	5.705000	0.68355	2.237000	0.73441	0.529000	0.55759	ACA		TCGA-IB-7651-01A-11D-2154-08	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1	0	0	0	11	321	0	59	1	8.797459e-01	3	109	0	59	2		0	0	0	0	0	2	1	9.979727e-01	11	307	0	59	2								-3.598175	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.490000	0.240000	1.000000	0.430000	0.583716	0.490000	0	3.400000e-01	1
GPR39	2863	broad.mit.edu	37	2	133402959	133402959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402959C>T	ENST00000329321.3	+	2	1611	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39			22					GCGCACTCCACCACCGACAGC	0.622000																								0							SO:0001583	missense			ENST00000329321.3	1	1	hg19	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566091	0.27915	.	.	ENSG00000183840	ENST00000329321	T	0.64991	-0.13	4.94	2.04	0.26737	.	3.978600	0.00610	N	0.000413	T	0.58250	0.2109	L	0.60455	1.87	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.16482	-1.0401	10	0.21540	T	0.41	.	6.3971	0.21618	0.1186:0.3915:0.4169:0.073	.	381	O43194	GPR39_HUMAN	I	381	ENSP00000327417:T381I	ENSP00000327417:T381I	T	+	2	0	GPR39	133119429	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	0.240000	0.21263	-0.219000	0.12488	ACC		TCGA-IB-7651-01A-11D-2154-08	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1	1	0	1	104	304	0	70	1	1	22	79	0	70	2		0	0	0	0	0	2	1	1	103	300	0	67	2								-20.000000	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR39	2863	broad.mit.edu	37	2	133402986	133402986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402986G>A	ENST00000329321.3	+	2	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39			22					TTTGTGCAGCGCCCGTTGCTC	0.627000																								0							SO:0001583	missense			ENST00000329321.3	1	1	hg19	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626000	0.46840	.	.	ENSG00000183840	ENST00000329321	T	0.65549	-0.16	5.15	5.15	0.70609	.	3.095510	0.01007	N	0.003779	T	0.78534	0.4298	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.65990	-0.6034	10	0.66056	D	0.02	.	18.8727	0.92322	0.0:0.0:1.0:0.0	.	390	O43194	GPR39_HUMAN	H	390	ENSP00000327417:R390H	ENSP00000327417:R390H	R	+	2	0	GPR39	133119456	1.000000	0.71417	0.994000	0.49952	0.018000	0.09664	2.018000	0.40991	2.692000	0.91855	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1	1	0	1	43	385	0	67	1	9.970035e-01	4	77	0	67	2		0	0	0	0	0	2	1	9.985495e-01	42	383	1	65	21								-3.318794	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.998365	0.990000	1	9.900000e-01	1
LYPD1	116372	broad.mit.edu	37	2	133403818	133403818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133403818C>A	ENST00000397463.2	-	3	498	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	GPR39_ENST00000329321.3_3'UTR|GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1			2					ATGAGACAGGCCGCTGATGAT	0.552000																								0							SO:0001583	missense			ENST00000397463.2	1	1	hg19	CCDS42759.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372246	0.95923	.	.	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.86956	-2.19;-2.19	5.7	5.7	0.88788	Ly-6 antigen / uPA receptor -like (1);	0.128766	0.52532	D	0.000077	D	0.89588	0.6758	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91025	0.4860	10	0.87932	D	0	-8.1411	19.8936	0.96942	0.0:1.0:0.0:0.0	.	76;92	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	S	99;76;24	ENSP00000380605:A76S;ENSP00000340563:A24S	ENSP00000340563:A24S	A	-	1	0	LYPD1	133120288	1.000000	0.71417	0.964000	0.40570	0.874000	0.50279	7.601000	0.82783	2.716000	0.92895	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	1	0	0	20	192	0	36	1	9.999184e-01	15	137	0	36	2		0	0	0	0	0	2	1	9.999956e-01	19	189	0	36	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.810000	1.000000	1.000000	0.986465	0.990000	1	9.900000e-01	1
NCKAP5	344148	broad.mit.edu	37	2	133540013	133540013	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540013G>A	ENST00000409261.1	-	14	4744	c.4371C>T	c.(4369-4371)acC>acT	p.T1457T	NCKAP5_ENST00000317721.6_Silent_p.T1457T|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5			118					CATCAGTCGCGGTTGCAGAGG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000409261.1	1	1	hg19	CCDS46418.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	0	0	0	8	231	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.893542e-01	8	229	0	50	2								-3.005669	1	1	120838	4	36	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.510000	0.220000	1.000000	0.430000	0.596437	0.510000	0	3.400000e-01	1
NCKAP5	344148	broad.mit.edu	37	2	133540637	133540637	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540637T>C	ENST00000409261.1	-	14	4120	c.3747A>G	c.(3745-3747)agA>agG	p.R1249R	NCKAP5_ENST00000317721.6_Silent_p.R1249R|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5			118					TTCTCATGGATCTATTATCTA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000409261.1	1	1	hg19	CCDS46418.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	1	0	1	52	490	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	48	472	0	99	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.960000	1.000000	1.000000	0.997868	0.990000	1	9.900000e-01	1
NCKAP5	344148	broad.mit.edu	37	2	133542171	133542171	+	Missense_Mutation	SNP	T	T	C	rs146403790	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133542171T>C	ENST00000409261.1	-	14	2586	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5			118					TTTCTCAGTGTCCTCTTCAGA	0.428000																								0							SO:0001583	missense			ENST00000409261.1	1	1	hg19	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	10.92	1.488547	0.26686	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.41400	1.0;1.0	5.2	4.05	0.47172	.	0.384947	0.18415	U	0.141921	T	0.21674	0.0522	N	0.08118	0	0.20074	N	0.999938	B	0.09022	0.002	B	0.06405	0.002	T	0.13176	-1.0519	10	0.38643	T	0.18	.	7.783	0.29077	0.0:0.1607:0.0:0.8393	.	738	O14513	NCKP5_HUMAN	G	738	ENSP00000387128:D738G;ENSP00000380603:D738G	ENSP00000380603:D738G	D	-	2	0	NCKAP5	133258641	0.966000	0.33281	0.285000	0.24819	0.962000	0.63368	1.727000	0.38095	1.017000	0.39495	0.529000	0.55759	GAC		TCGA-IB-7651-01A-11D-2154-08	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	1	0	0	16	305	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	9.999248e-01	15	298	0	59	2								-17.222770	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.720000	0.400000	1.000000	1.000000	0.749239	0.720000	0	5.400000e-01	1
NCKAP5	344148	broad.mit.edu	37	2	133543008	133543008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133543008C>T	ENST00000409261.1	-	14	1749	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5			118					CTTGCAGGGGCTCCCCAGGTC	0.468000																								0							SO:0001583	missense			ENST00000409261.1	1	1	hg19	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	9.912	1.209740	0.22289	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10573	2.86;2.86	5.38	2.4	0.29515	.	0.181563	0.24942	U	0.034373	T	0.12178	0.0296	L	0.27053	0.805	0.19775	N	0.999957	D	0.58620	0.983	P	0.51453	0.67	T	0.08006	-1.0743	10	0.59425	D	0.04	.	10.4977	0.44788	0.1449:0.4593:0.3958:0.0	.	459	O14513	NCKP5_HUMAN	N	459	ENSP00000387128:S459N;ENSP00000380603:S459N	ENSP00000380603:S459N	S	-	2	0	NCKAP5	133259478	0.002000	0.14202	0.482000	0.27366	0.139000	0.21198	0.826000	0.27407	0.305000	0.22832	0.645000	0.84053	AGC		TCGA-IB-7651-01A-11D-2154-08	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	1	0	0	20	247	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.999950e-01	20	241	0	60	2								-19.999990	1	1	120826	1	27	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.640000	1.000000	1.000000	0.937637	0.990000	1	8.200000e-01	1
MGAT5	4249	broad.mit.edu	37	2	135028024	135028024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135028024G>A	ENST00000409645.1	+	3	561	c.309G>A	c.(307-309)aaG>aaA	p.K103K	MGAT5_ENST00000281923.2_Silent_p.K103K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase			36					TGGAGTCGAAGGTGGACAATC	0.413000																								0							SO:0001819	synonymous_variant			ENST00000409645.1	1	1	hg19	CCDS2171.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	1	0	1	29	264	0	71	1	9.879511e-01	12	54	0	71	2		0	0	0	0	0	2	1	1	29	262	0	71	2								-3.017764	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.910000	1.000000	1.000000	0.995181	0.990000	1	9.900000e-01	1
MGAT5	4249	broad.mit.edu	37	2	135199477	135199477	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135199477A>G	ENST00000409645.1	+	16	2270	c.2018A>G	c.(2017-2019)gAc>gGc	p.D673G	MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase			36					AAGGACAAGGACATGCTGAAG	0.587000																								0							SO:0001583	missense			ENST00000409645.1	1	1	hg19	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858795	0.32884	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.19	5.19	0.71726	.	0.130520	0.64402	D	0.000002	T	0.50137	0.1598	L	0.40543	1.245	0.80722	D	1	B	0.33612	0.419	B	0.38500	0.275	T	0.44636	-0.9315	9	0.22109	T	0.4	-27.4264	12.0579	0.53546	0.8464:0.1536:0.0:0.0	.	673	Q09328	MGT5A_HUMAN	G	673	.	ENSP00000281923:D673G	D	+	2	0	MGAT5	134915947	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.997000	0.76270	2.179000	0.69175	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	1	0	0	49	506	0	126	1	9.853598e-01	4	66	0	126	2		0	0	0	0	0	2	1	1	49	498	0	124	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.880000	1.000000	1.000000	0.991898	0.990000	1	9.900000e-01	1
RAB3GAP1	22930	broad.mit.edu	37	2	135920351	135920351	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135920351T>C	ENST00000264158.8	+	21	2463	c.2420T>C	c.(2419-2421)aTc>aCc	p.I807T	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)			32					GTTAAGAAGATCATAAAGCAG	0.323000																								0							SO:0001583	missense			ENST00000264158.8	1	1	hg19	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	8.614	0.889897	0.17540	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46063	0.88;0.88;0.88	6.06	6.06	0.98353	.	0.199980	0.52532	D	0.000062	T	0.31827	0.0809	L	0.36672	1.1	0.80722	D	1	B;B	0.15719	0.014;0.003	B;B	0.08055	0.003;0.001	T	0.12451	-1.0547	10	0.22109	T	0.4	-21.2019	10.8727	0.46894	0.0:0.0697:0.0:0.9303	.	807;807	C9J837;Q15042	.;RB3GP_HUMAN	T	807;763;807	ENSP00000264158:I807T;ENSP00000444306:I763T;ENSP00000411418:I807T	ENSP00000264158:I807T	I	+	2	0	RAB3GAP1	135636821	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.094000	0.41719	2.324000	0.78689	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	1	0	1	124	304	0	108	1	1	79	112	0	108	2		0	0	0	0	0	2	1	1	122	301	0	108	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZRANB3	84083	broad.mit.edu	37	2	136033212	136033212	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136033212T>G	ENST00000264159.6	-	9	1196	c.1080A>C	c.(1078-1080)gaA>gaC	p.E360D	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D|ZRANB3_ENST00000401392.1_Missense_Mutation_p.E360D	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3			20					ATACCTTATTTTCGATGACTG	0.318000																								0							SO:0001583	missense			ENST00000264159.6	0	1	hg19	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183042	0.57800	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.92699	-3.09;-3.09;-3.09	5.21	2.83	0.33086	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	N	0.21240	0.645	0.44789	D	0.997797	P;P;P	0.47302	0.893;0.802;0.454	B;P;P	0.49477	0.428;0.612;0.465	D	0.84716	0.0737	10	0.52906	T	0.07	3.0918	8.4771	0.33021	0.0:0.3001:0.0:0.6999	.	300;360;360	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	D	360;360;360;300	ENSP00000383979:E360D;ENSP00000264159:E360D;ENSP00000441320:E360D	ENSP00000264159:E360D	E	-	3	2	ZRANB3	135749682	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	1.787000	0.38704	0.309000	0.22966	-0.415000	0.06103	GAA		TCGA-IB-7651-01A-11D-2154-08	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	1	0	1	10	88	0	23	0	3.587653e-02	0	3	0	23	2		0	0	0	0	0	2	1	9.972367e-01	10	87	0	22	2								-16.773760	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.740000	1.000000	1.000000	0.981095	0.990000	1	9.900000e-01	1
R3HDM1	23518	broad.mit.edu	37	2	136399206	136399206	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136399206A>G	ENST00000264160.4	+	15	1690	c.1320A>G	c.(1318-1320)gcA>gcG	p.A440A	R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Silent_p.A384A|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000409606.1_Silent_p.A440A|R3HDM1_ENST00000443537.2_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1			38					CTCATGGCGCACCTGTCGTCT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000264160.4	1	1	hg19	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133237	0.21041	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.76	2.28	0.28536	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	-2.99	5.9648	0.19318	0.5055:0.2359:0.2587:0.0	.	.	.	.	A	129	.	.	T	+	1	0	R3HDM1	136115676	0.888000	0.30383	1.000000	0.80357	0.999000	0.98932	0.057000	0.14279	0.470000	0.27294	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	0	0	0	61	672	1	136	0	1.720463e-01	0	9	1	136	2		0	0	0	0	0	2	1	9.999997e-01	60	660	1	133	19								-14.953650	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.850000	1.000000	1.000000	0.986462	0.990000	1	9.700000e-01	1
R3HDM1	23518	broad.mit.edu	37	2	136409370	136409370	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136409370C>T	ENST00000264160.4	+	17	2061	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P509L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1			38					GGTTCTGACCCTCATGCCGCC	0.502000																								0							SO:0001583	missense			ENST00000264160.4	1	1	hg19	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863531	0.91511	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.42	5.42	0.78866	.	0.061254	0.64402	D	0.000002	T	0.68568	0.3015	M	0.75777	2.31	0.80722	D	1	D;P;D;D	0.61697	0.99;0.937;0.986;0.986	D;B;P;P	0.62955	0.909;0.328;0.674;0.674	T	0.71978	-0.4429	10	0.72032	D	0.01	-9.5794	19.2069	0.93734	0.0:1.0:0.0:0.0	.	436;565;509;564	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	L	436;564;435;509;565	ENSP00000386457:P436L;ENSP00000264160:P564L;ENSP00000331396:P435L;ENSP00000386877:P509L;ENSP00000387010:P565L	ENSP00000264160:P564L	P	+	2	0	R3HDM1	136125840	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.235000	0.58666	2.520000	0.84964	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	1	0	1	250	754	0	191	1	9.999483e-01	21	24	0	191	2		0	0	0	0	0	2	1	1	245	724	0	189	2								-7.368284	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
R3HDM1	23518	broad.mit.edu	37	2	136481790	136481790	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136481790T>C	ENST00000264160.4	+	26	3598	c.3228T>C	c.(3226-3228)gtT>gtC	p.V1076V	R3HDM1_ENST00000329971.3_Silent_p.V947V|R3HDM1_ENST00000410054.1_Silent_p.V1021V|R3HDM1_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000409606.1_Silent_p.V1077V	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	p.V1076V(1)		38					TTAACTCAGTTAACAAGTTTA	0.448000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000264160.4	1	1	hg19	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	T	5.230	0.227914	0.09916	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.74	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9318	8.1282	0.31012	0.0:0.1243:0.4865:0.3891	.	.	.	.	Q	800	.	.	X	+	1	0	R3HDM1	136198260	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.328000	0.19681	0.501000	0.28013	0.459000	0.35465	TAA		TCGA-IB-7651-01A-11D-2154-08	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	1	0	1	15	196	0	43	1	9.554446e-01	15	56	0	43	2		0	0	0	0	0	2	1	9.998774e-01	15	193	0	43	2								-19.292490	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.570000	1.000000	1.000000	0.913672	0.990000	1	7.600000e-01	1
UBXN4	23190	broad.mit.edu	37	2	136513182	136513182	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136513182T>G	ENST00000272638.9	+	5	740	c.429T>G	c.(427-429)acT>acG	p.T143T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4			24					CTAACAACACTTGTGAAAACT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000272638.9	1	1	hg19	CCDS42761.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	1	0	1	91	250	0	80	1	1	179	281	0	80	2		0	0	0	0	0	2	1	1	89	245	0	79	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBXN4	23190	broad.mit.edu	37	2	136533888	136533888	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136533888T>G	ENST00000272638.9	+	10	1331	c.1020T>G	c.(1018-1020)gcT>gcG	p.A340A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4			24					CTTCTGATGCTCCTCTAGAAG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000272638.9	1	1	hg19	CCDS42761.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	1	0	1	75	177	0	61	1	1	145	216	0	61	2		0	0	0	0	0	2	1	1	75	176	0	60	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBXN4	23190	broad.mit.edu	37	2	136540441	136540441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136540441C>T	ENST00000272638.9	+	13	1822	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4			24					AATGGAAATTCCACTCAACAG	0.348000																								0							SO:0001583	missense			ENST00000272638.9	1	1	hg19	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460317	0.84317	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.75050	-0.9	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89257	0.3595	10	0.87932	D	0	.	19.3516	0.94389	0.0:1.0:0.0:0.0	.	504	Q92575	UBXN4_HUMAN	F	504;486	ENSP00000272638:S504F	ENSP00000272638:S504F	S	+	2	0	UBXN4	136256911	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.430000	0.80321	2.557000	0.86248	0.643000	0.83706	TCC		TCGA-IB-7651-01A-11D-2154-08	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	1	0	1	152	383	0	94	1	1	205	347	0	94	2		0	0	0	0	0	2	1	1	151	380	0	94	2								-8.873414	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCT	3938	broad.mit.edu	37	2	136567505	136567505	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136567505G>A	ENST00000264162.2	-	8	2422	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase			124				Vitamin C(DB00126)	GGCCTTCGAAGCCATCAATGA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000264162.2	1	1	hg19	CCDS2178.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	1	127	351	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	126	342	0	65	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCT	3938	broad.mit.edu	37	2	136569955	136569955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136569955C>T	ENST00000264162.2	-	7	2289	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase			124				Vitamin C(DB00126)	TTCACTTTCCCCTATGGGCAT	0.443000																								0							SO:0001583	missense			ENST00000264162.2	1	1	hg19	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571513	0.03882	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.29655	1.56	5.36	1.61	0.23674	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.196938	0.43110	D	0.000601	T	0.11665	0.0284	N	0.12746	0.255	0.38293	D	0.942758	B	0.10296	0.003	B	0.18871	0.023	T	0.25502	-1.0130	10	0.02654	T	1	-13.6472	5.1686	0.15098	0.0:0.4355:0.2938:0.2706	.	760	P09848	LPH_HUMAN	E	760;192	ENSP00000264162:G760E	ENSP00000264162:G760E	G	-	2	0	LCT	136286425	0.931000	0.31567	0.996000	0.52242	0.975000	0.68041	1.299000	0.33424	0.591000	0.29711	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	0	64	647	1	136		0	0	0	1	136	2		0	0	0	0	0	2	1	1	63	632	1	134	18								-2.473695	0	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.930000	1.000000	1.000000	0.996011	0.990000	1	9.900000e-01	1
LCT	3938	broad.mit.edu	37	2	136570077	136570077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136570077C>T	ENST00000264162.2	-	7	2167	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase			124				Vitamin C(DB00126)	AGGATGAGGTCTGGGGCCACA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000264162.2	1	1	hg19	CCDS2178.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	0	39	378	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	38	373	0	98	2								-3.221883	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.900000	1.000000	1.000000	0.994496	0.990000	1	9.900000e-01	1
LCT	3938	broad.mit.edu	37	2	136575093	136575093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136575093C>A	ENST00000264162.2	-	6	1535	c.1525G>T	c.(1525-1527)Gga>Tga	p.G509*	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase			124				Vitamin C(DB00126)	TTCTGCCATCCACCATGATCC	0.577000																								0							SO:0001587	stop_gained			ENST00000264162.2	0	1	hg19	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677799	0.88445	.	.	ENSG00000115850	ENST00000264162	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.8763	19.7399	0.96223	0.0:1.0:0.0:0.0	.	.	.	.	X	509	.	ENSP00000264162:G509X	G	-	1	0	LCT	136291563	1.000000	0.71417	0.752000	0.31206	0.020000	0.10135	7.776000	0.85560	2.736000	0.93811	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	0	42	264	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	42	259	0	57	2								-3.018864	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
LCT	3938	broad.mit.edu	37	2	136594308	136594308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136594308G>A	ENST00000264162.2	-	1	442	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase			124				Vitamin C(DB00126)	CAAAGGCTTCGGTTCTCCGGA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000264162.2	1	1	hg19	CCDS2178.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	1	0	1	80	203	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	77	194	0	59	2								-20.000000	1	1	121412	6	38	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM6	4175	broad.mit.edu	37	2	136602132	136602132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602132G>A	ENST00000264156.2	-	16	2392	c.2332C>T	c.(2332-2334)Cat>Tat	p.H778Y	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6			29					GTGAGTCGATGAATAACTTTC	0.418000													Ovarian(196;141 2104 8848 24991 25939)											0							SO:0001583	missense			ENST00000264156.2	1	1	hg19	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416079	0.42817	.	.	ENSG00000076003	ENST00000264156	T	0.03124	4.04	5.74	3.76	0.43208	.	0.417665	0.30227	N	0.010116	T	0.04092	0.0114	L	0.32530	0.975	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.39461	-0.9613	10	0.56958	D	0.05	-2.0985	12.1062	0.53813	0.1072:0.0:0.8928:0.0	.	778	Q14566	MCM6_HUMAN	Y	778	ENSP00000264156:H778Y	ENSP00000264156:H778Y	H	-	1	0	MCM6	136318602	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.682000	0.61671	0.622000	0.30249	0.650000	0.86243	CAT		TCGA-IB-7651-01A-11D-2154-08	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	1	95	236	0	60	1	1	44	52	0	60	2		0	0	0	0	0	2	1	1	91	230	0	60	2								-7.500804	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM6	4175	broad.mit.edu	37	2	136602208	136602208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602208G>T	ENST00000264156.2	-	16	2316	c.2256C>A	c.(2254-2256)taC>taA	p.Y752*	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6			29					TTTCCTTCAAGTACCAGTTAA	0.368000													Ovarian(196;141 2104 8848 24991 25939)											0							SO:0001587	stop_gained			ENST00000264156.2	0	1	hg19	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611460	0.96637	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.86	4.06	0.47325	.	0.111455	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1339	8.1078	0.30896	0.2921:0.0:0.7079:0.0	.	.	.	.	X	752	.	ENSP00000264156:Y752X	Y	-	3	2	MCM6	136318678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.176000	0.42500	1.488000	0.48433	0.650000	0.86243	TAC		TCGA-IB-7651-01A-11D-2154-08	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	0	40	437	0	102	1	9.994216e-01	4	119	0	102	2		0	0	0	0	0	2	1	1	39	430	0	102	2								-11.709270	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.810000	1.000000	1.000000	0.981603	0.990000	1	9.600000e-01	1
MCM6	4175	broad.mit.edu	37	2	136610461	136610461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610461G>A	ENST00000264156.2	-	12	1711	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6			29					TCTACTATGCGCCTGGCAATG	0.363000													Ovarian(196;141 2104 8848 24991 25939)											0							SO:0001583	missense			ENST00000264156.2	1	1	hg19	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650320	0.87958	.	.	ENSG00000076003	ENST00000264156	T	0.06768	3.26	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.05273	-1.0895	10	0.87932	D	0	-9.537	15.9876	0.80174	0.0:0.0:0.8642:0.1358	.	551	Q14566	MCM6_HUMAN	C	551	ENSP00000264156:R551C	ENSP00000264156:R551C	R	-	1	0	MCM6	136326931	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.573000	0.82421	1.405000	0.46838	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	1	66	196	0	80	1	1	55	49	0	80	2		0	0	0	0	0	2	1	1	65	194	0	80	2								-4.963721	1	0	121408	3	34	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM6	4175	broad.mit.edu	37	2	136610469	136610469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610469A>G	ENST00000264156.2	-	12	1703	c.1643T>C	c.(1642-1644)aTt>aCt	p.I548T	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6			29					GCGCCTGGCAATGGCATAATC	0.368000													Ovarian(196;141 2104 8848 24991 25939)											0							SO:0001583	missense			ENST00000264156.2	1	1	hg19	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457286	0.84317	.	.	ENSG00000076003	ENST00000264156	T	0.09255	3.0	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.91090	3.175	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.54105	-0.8343	10	0.87932	D	0	-18.6403	16.0818	0.81010	1.0:0.0:0.0:0.0	.	548	Q14566	MCM6_HUMAN	T	548	ENSP00000264156:I548T	ENSP00000264156:I548T	I	-	2	0	MCM6	136326939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.904000	0.92590	2.206000	0.71126	0.455000	0.32223	ATT		TCGA-IB-7651-01A-11D-2154-08	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	1	67	201	0	79	1	1	61	54	0	79	2		0	0	0	0	0	2	1	1	66	200	0	79	2								-20.000000	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM6	4175	broad.mit.edu	37	2	136614334	136614334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136614334G>A	ENST00000264156.2	-	11	1650	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6			29					AGAAGAGATCGAATCGGGACA	0.413000													Ovarian(196;141 2104 8848 24991 25939)											0							SO:0001819	synonymous_variant			ENST00000264156.2	1	1	hg19	CCDS2179.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	1	134	283	0	61	1	1	45	48	0	61	2		0	0	0	0	0	2	1	1	132	280	0	61	2								-11.970300	1	1	121412	3	35	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM6	4175	broad.mit.edu	37	2	136627930	136627930	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136627930C>T	ENST00000264156.2	-	3	316	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6			29					TAAGGGTAAACTCTGAAAAAC	0.433000													Ovarian(196;141 2104 8848 24991 25939)											0							SO:0001630	splice_region_variant			ENST00000264156.2	1	0	hg19	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089667	0.55968	.	.	ENSG00000076003	ENST00000264156	T	0.11169	2.8	5.5	5.5	0.81552	Nucleic acid-binding, OB-fold-like (1);	0.055393	0.64402	D	0.000001	T	0.14013	0.0339	L	0.49513	1.565	0.80722	D	1	B	0.17852	0.024	B	0.20767	0.031	T	0.09079	-1.0691	10	0.21014	T	0.42	-21.2407	19.3903	0.94578	0.0:1.0:0.0:0.0	.	86	Q14566	MCM6_HUMAN	I	86	ENSP00000264156:V86I	ENSP00000264156:V86I	V	-	1	0	MCM6	136344400	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.859000	0.62954	2.578000	0.87016	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	1	0	0	220	548	0	128	1	1	28	60	0	128	2		0	0	0	0	0	2	1	1	215	535	0	127	2								-20.000000	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DARS	1615	broad.mit.edu	37	2	136673868	136673868	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136673868C>T	ENST00000264161.4	-	11	1249	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	DARS_ENST00000537273.1_Missense_Mutation_p.R245K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase			15				L-Aspartic Acid(DB00128)	ATATTCTAGTCTTAGAGTTGG	0.368000																								0							SO:0001583	missense			ENST00000264161.4	1	1	hg19	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478771	0.44044	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	D;D;D	0.86865	-1.51;-2.18;-1.51	5.43	5.43	0.79202	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	L	0.49350	1.555	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.78919	-0.2014	10	0.21014	T	0.42	-16.9407	19.6188	0.95647	0.0:1.0:0.0:0.0	.	345	P14868	SYDC_HUMAN	K	345;59;245	ENSP00000264161:R345K;ENSP00000387508:R59K;ENSP00000444192:R245K	ENSP00000264161:R345K	R	-	2	0	DARS	136390338	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.746000	0.68681	2.699000	0.92147	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	1	0	1	45	467	0	89	1	1	58	399	0	89	2		0	0	0	0	0	2	1	1	44	460	0	88	2								-13.017540	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.870000	1.000000	1.000000	0.990390	0.990000	1	9.900000e-01	1
CXCR4	7852	broad.mit.edu	37	2	136872482	136872482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872482G>T	ENST00000241393.3	-	2	1120	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.S343Y	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4			25				Framycetin(DB00452)|Plerixafor(DB06809)	AGTGGAAACAGATGAATGTCC	0.418000																								0							SO:0001583	missense			ENST00000241393.3	1	1	hg19	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091409	0.36855	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.61627	0.09;0.09	5.95	5.95	0.96441	.	0.195409	0.56097	D	0.000035	T	0.64605	0.2613	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.68032	-0.5516	10	0.54805	T	0.06	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	339;343	P61073;P61073-2	CXCR4_HUMAN;.	Y	343;339;209	ENSP00000386884:S343Y;ENSP00000241393:S339Y	ENSP00000241393:S339Y	S	-	2	0	CXCR4	136588952	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1	1	0	1	11	78	0	21	1	1	4	731	0	21	2		0	0	0	0	0	2	1	9.986929e-01	11	78	0	21	2								-18.579590	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.920000	1.000000	1.000000	0.994925	0.990000	1	9.900000e-01	1
CXCR4	7852	broad.mit.edu	37	2	136872944	136872944	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872944A>C	ENST00000241393.3	-	2	658	c.554T>G	c.(553-555)aTc>aGc	p.I185S	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.I189S	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4			25				Framycetin(DB00452)|Plerixafor(DB06809)	GCGGTCACAGATATATCTGTC	0.512000																								0							SO:0001583	missense			ENST00000241393.3	1	1	hg19	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733907	0.30684	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.35973	1.28;1.28	6.17	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.939982	0.09064	N	0.853828	T	0.32406	0.0828	N	0.26162	0.8	0.50467	D	0.999876	B;D	0.57899	0.376;0.981	P;P	0.46110	0.479;0.504	T	0.00867	-1.1534	10	0.24483	T	0.36	.	12.2882	0.54803	0.9345:0.0:0.0655:0.0	.	185;189	P61073;P61073-2	CXCR4_HUMAN;.	S	189;185;55	ENSP00000386884:I189S;ENSP00000241393:I185S	ENSP00000241393:I185S	I	-	2	0	CXCR4	136589414	0.962000	0.33011	0.834000	0.33040	0.470000	0.32858	6.178000	0.71968	1.161000	0.42604	-0.250000	0.11733	ATC		TCGA-IB-7651-01A-11D-2154-08	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1	0	0	0	18	438	0	93	0	9.999985e-01	0	586	0	93	2		0	0	0	0	0	2	1	9.999802e-01	18	431	0	93	2								-18.062560	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.560000	0.320000	1.000000	0.520000	0.640575	0.560000	0	4.300000e-01	1
THSD7B	80731	broad.mit.edu	37	2	137988686	137988686	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:137988686G>A	ENST00000409968.1	+	8	1974	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B			134					ATTCCCTGCCGAATGGACTGT	0.488000																								0							SO:0001583	missense			ENST00000409968.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.19	3.779624	0.70107	2.51E-4	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.89	4.09	0.47781	.	0.705388	0.14196	N	0.334986	T	0.39759	0.1090	L	0.28115	0.83	0.80722	D	1	D;P	0.56746	0.977;0.938	B;B	0.40444	0.329;0.329	T	0.14783	-1.0460	10	0.34782	T	0.22	.	6.6903	0.23167	0.1639:0.2698:0.5663:0.0	.	599;568	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Q	599;599;568	ENSP00000387145:R599Q;ENSP00000272643:R599Q;ENSP00000413841:R568Q	ENSP00000272643:R599Q	R	+	2	0	THSD7B	137705156	0.927000	0.31430	0.992000	0.48379	0.969000	0.65631	4.797000	0.62503	1.503000	0.48686	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	0	0	17	231	0	52	0	8.769364e-02	0	7	0	52	2		0	0	0	0	0	2	1	9.999606e-01	17	223	0	52	2								-6.097678	1	1	120922	3	37	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.980000	0.570000	1.000000	1.000000	0.901723	0.980000	1	7.400000e-01	1
THSD7B	80731	broad.mit.edu	37	2	138373804	138373804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:138373804C>A	ENST00000409968.1	+	18	3661	c.3483C>A	c.(3481-3483)aaC>aaA	p.N1161K	THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B			134					CATCACTGAACTCAAGGACTT	0.443000																								0							SO:0001583	missense			ENST00000409968.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	1.846	-0.466125	0.04476	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.18174	2.23;2.23;2.23	5.2	0.0549	0.14312	.	0.564048	0.21965	N	0.066528	T	0.11707	0.0285	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35798	-0.9774	10	0.12103	T	0.63	.	4.6827	0.12743	0.1435:0.4232:0.0:0.4333	.	1133	C9JKN6	.	K	1161;1164;1133	ENSP00000387145:N1161K;ENSP00000272643:N1164K;ENSP00000413841:N1133K	ENSP00000272643:N1164K	N	+	3	2	THSD7B	138090274	0.005000	0.15991	0.089000	0.20774	0.130000	0.20726	0.048000	0.14078	0.049000	0.15920	0.650000	0.86243	AAC		TCGA-IB-7651-01A-11D-2154-08	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	0	0	60	645	0	135	0	2.447882e-01	0	11	0	135	2		0	0	0	0	0	2	1	1	59	634	0	133	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.870000	1.000000	1.000000	0.989771	0.990000	1	9.900000e-01	1
SPOPL	339745	broad.mit.edu	37	2	139318378	139318378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:139318378C>T	ENST00000280098.4	+	8	1097	c.718C>T	c.(718-720)Cga>Tga	p.R240*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like			21					ATATCAGAATCGAGTGGAAAT	0.313000																								0							SO:0001587	stop_gained			ENST00000280098.4	0	1	hg19	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	C	40	8.236883	0.98719	.	.	ENSG00000144228	ENST00000280098	.	.	.	5.15	5.15	0.70609	.	0.192219	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.6407	13.8908	0.63738	0.1525:0.8475:0.0:0.0	.	.	.	.	X	240	.	.	R	+	1	2	SPOPL	139034848	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.890000	0.69774	2.554000	0.86153	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1	1	0	0	23	213	0	45	1	9.686596e-01	2	53	0	45	2		0	0	0	0	0	2	1	9.999995e-01	23	209	0	45	2								-9.877018	1	1	121404	2	28	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.860000	1.000000	1.000000	0.991580	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	140990894	140990894	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:140990894G>A	ENST00000389484.3	-	91	14632	c.13661C>T	c.(13660-13662)cCa>cTa	p.P4554L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			GTAATTTGTTGGCTGAAGGAG	0.328000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001630	splice_region_variant			ENST00000389484.3	1	0	hg19	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.080957|4.080957	0.76528|0.76528	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.49720|.	0.77|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|.	0.71117|.	0.3302|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P|.	0.45986|.	0.87|.	B|.	0.41571|.	0.36|.	T|.	0.66396|.	-0.5934|.	10|.	0.87932|.	D|.	0|.	.|.	19.8102|19.8102	0.96543|0.96543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4554|.	Q9NZR2|.	LRP1B_HUMAN|.	L|X	4554;4492|753	ENSP00000374135:P4554L|.	ENSP00000374135:P4554L|.	P|Q	-|-	2|1	0|0	LRP1B|LRP1B	140707364|140707364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	6.398000|6.398000	0.73244|0.73244	2.682000|2.682000	0.91365|0.91365	0.585000|0.585000	0.79938|0.79938	CCA|CAA		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	19	195	0	37	0	0	0	1	0	37	2		0	0	0	0	0	2	1	6.057369e-01	19	191	1	37	18								-20.000000	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.750000	1.000000	1.000000	0.977484	0.990000	1	9.700000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141032124	141032124	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141032124A>C	ENST00000389484.3	-	85	13982	c.13011T>G	c.(13009-13011)atT>atG	p.I4337M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			CATCATCCCCAATGGTACATG	0.413000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.269|6.269	0.417832|0.417832	0.11870|0.11870	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90133|.	-2.62|.	5.36|5.36	-2.75|-2.75	0.05914|0.05914	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.189986|.	0.35320|.	U|.	0.003299|.	T|T	0.14960|0.14960	0.0361|0.0361	N|N	0.11427|0.11427	0.14|0.14	0.27396|0.27396	N|N	0.954992|0.954992	P|.	0.40476|.	0.718|.	B|.	0.33690|.	0.168|.	T|T	0.29822|0.29822	-0.9999|-0.9999	10|5	0.42905|.	T|.	0.14|.	.|.	3.9768|3.9768	0.09478|0.09478	0.492:0.0:0.2697:0.2383|0.492:0.0:0.2697:0.2383	.|.	4337|.	Q9NZR2|.	LRP1B_HUMAN|.	M|W	4337;4275|569;69	ENSP00000374135:I4337M|.	ENSP00000374135:I4337M|.	I|L	-|-	3|2	3|0	LRP1B|LRP1B	140748594|140748594	0.927000|0.927000	0.31430|0.31430	0.982000|0.982000	0.44146|0.44146	0.986000|0.986000	0.74619|0.74619	0.135000|0.135000	0.15952|0.15952	-0.221000|-0.221000	0.09973|0.09973	-0.333000|-0.333000	0.08304|0.08304	ATT|TTG		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	25	318	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	9.999998e-01	25	312	0	61	2								-7.907533	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.650000	1.000000	1.000000	0.932237	0.990000	1	8.100000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141113963	141113963	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141113963G>T	ENST00000389484.3	-	75	12449	c.11478C>A	c.(11476-11478)ttC>ttA	p.F3826L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			TACAGCGACAGAAAACAGATG	0.343000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.83|12.83	2.056885|2.056885	0.36277|0.36277	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.27557|.	1.66|.	5.83|5.83	4.93|4.93	0.64822|0.64822	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.405864|.	0.24373|.	N|.	0.039086|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.29908|0.29908	0.895|0.895	0.30927|0.30927	N|N	0.727314|0.727314	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.33214|0.33214	-0.9877|-0.9877	10|5	0.12766|.	T|.	0.61|.	.|.	5.3529|5.3529	0.16045|0.16045	0.2398:0.1613:0.5989:0.0|0.2398:0.1613:0.5989:0.0	.|.	3826|.	Q9NZR2|.	LRP1B_HUMAN|.	L|Y	3826;3764|58	ENSP00000374135:F3826L|.	ENSP00000374135:F3826L|.	F|S	-|-	3|2	2|0	LRP1B|LRP1B	140830433|140830433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.148000|1.148000	0.31614|0.31614	1.402000|1.402000	0.46780|0.46780	0.655000|0.655000	0.94253|0.94253	TTC|TCT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	97	288	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	97	285	0	77	2								-5.549639	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			GACACTCACCGCAGTTGGCCT	0.448000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001630	splice_region_variant			ENST00000389484.3	1	0	hg19	CCDS2182.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	115	284	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	114	279	0	75	2								-8.183288	1	1	121410	1	33	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141208170	141208170	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141208170A>G	ENST00000389484.3	-	63	10995	c.10024T>C	c.(10024-10026)Tgt>Cgt	p.C3342R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			CCATCACCACAGTCATCCACG	0.358000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704899	0.88924	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.51	5.51	0.81932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96100	0.9068	10	0.87932	D	0	.	15.9059	0.79430	1.0:0.0:0.0:0.0	.	3342	Q9NZR2	LRP1B_HUMAN	R	3342;3280	ENSP00000374135:C3342R	ENSP00000374135:C3342R	C	-	1	0	LRP1B	140924640	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.245000	0.95431	2.225000	0.72522	0.477000	0.44152	TGT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	128	310	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	126	301	0	68	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141215049	141215049	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141215049G>T	ENST00000389484.3	-	61	10768	c.9797C>A	c.(9796-9798)tCt>tAt	p.S3266Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			TTGTCTATAAGAATGATACAC	0.363000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353362	0.82132	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91577	-2.87	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.080321	0.52532	U	0.000066	D	0.91798	0.7405	M	0.63428	1.95	0.49915	D	0.999831	P	0.52842	0.956	P	0.48030	0.564	D	0.92527	0.6030	10	0.66056	D	0.02	.	19.3152	0.94208	0.0:0.0:1.0:0.0	.	3266	Q9NZR2	LRP1B_HUMAN	Y	3266;3204	ENSP00000374135:S3266Y	ENSP00000374135:S3266Y	S	-	2	0	LRP1B	140931519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.550000	0.86006	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	144	372	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	142	363	0	106	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141242946	141242946	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141242946A>T	ENST00000389484.3	-	59	10362	c.9391T>A	c.(9391-9393)Ttt>Att	p.F3131I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			TCTCTGGGAAACTTCAGCCTT	0.348000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374570	0.61735	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93488	-3.23	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.139448	0.47852	D	0.000201	D	0.84750	0.5541	N	0.11427	0.14	0.30025	N	0.813992	P	0.42827	0.791	B	0.37650	0.255	D	0.83385	0.0014	10	0.40728	T	0.16	.	11.7383	0.51778	0.8528:0.1472:0.0:0.0	.	3131	Q9NZR2	LRP1B_HUMAN	I	3131;3069	ENSP00000374135:F3131I	ENSP00000374135:F3131I	F	-	1	0	LRP1B	140959416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.153000	0.64888	2.178000	0.69098	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1	88	228	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	88	222	0	63	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141253268	141253268	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141253268A>C	ENST00000389484.3	-	56	9871	c.8900T>G	c.(8899-8901)gTa>gGa	p.V2967G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			ATCAATGTCTACACATGTTTT	0.413000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328978	0.60743	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95622	-3.76	5.73	5.73	0.89815	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.174205	0.37623	N	0.002007	D	0.92753	0.7696	N	0.12961	0.28	0.80722	D	1	P	0.51147	0.942	P	0.54759	0.76	D	0.91102	0.4915	10	0.23302	T	0.38	.	11.9202	0.52787	0.9304:0.0:0.0696:0.0	.	2967	Q9NZR2	LRP1B_HUMAN	G	2967;2905	ENSP00000374135:V2967G	ENSP00000374135:V2967G	V	-	2	0	LRP1B	140969738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.195000	0.70347	0.477000	0.44152	GTA		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	71	131	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	67	128	0	45	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141259311	141259311	+	Missense_Mutation	SNP	C	C	A	rs139867739		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141259311C>A	ENST00000389484.3	-	55	9766	c.8795G>T	c.(8794-8796)aGt>aTt	p.S2932I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			GACTTTCTTACTCAAACATTC	0.403000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	0	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275321	0.80580	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87491	-2.26	5.71	5.71	0.89125	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.058264	0.64402	U	0.000002	T	0.80008	0.4545	N	0.04116	-0.275	0.40241	D	0.977951	D	0.56521	0.976	P	0.47864	0.559	T	0.81662	-0.0831	10	0.30854	T	0.27	.	19.8494	0.96733	0.0:1.0:0.0:0.0	.	2932	Q9NZR2	LRP1B_HUMAN	I	2932;2870	ENSP00000374135:S2932I	ENSP00000374135:S2932I	S	-	2	0	LRP1B	140975781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.939000	0.70179	2.705000	0.92388	0.585000	0.79938	AGT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	0	10	354	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	9.966662e-01	8	349	0	67	2								-10.085010	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.410000	0.190000	1.000000	0.360000	0.524959	0.410000	0	2.800000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141283540	141283540	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141283540G>A	ENST00000389484.3	-	49	8870	c.7899C>T	c.(7897-7899)ttC>ttT	p.F2633F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			CAAGCTTATAGAAATGTGTGC	0.393000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001819	synonymous_variant			ENST00000389484.3	1	1	hg19	CCDS2182.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	15	266	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.998551e-01	15	258	0	56	2								-3.147955	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.770000	0.430000	1.000000	1.000000	0.784168	0.770000	0	5.700000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141359166	141359166	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141359166T>C	ENST00000389484.3	-	42	7813	c.6842A>G	c.(6841-6843)gAt>gGt	p.D2281G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			GTACAGTGTATCCCAGGCTCT	0.453000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639947	0.87760	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88586	-2.4	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.128995	0.49916	D	0.000131	D	0.93802	0.8018	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.93964	0.7243	10	0.51188	T	0.08	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2281	Q9NZR2	LRP1B_HUMAN	G	2281;2219	ENSP00000374135:D2281G	ENSP00000374135:D2281G	D	-	2	0	LRP1B	141075636	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	7.949000	0.87791	2.015000	0.59207	0.459000	0.35465	GAT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	15	190	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.998731e-01	15	186	0	41	2								-6.402675	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.590000	1.000000	1.000000	0.923801	0.990000	1	7.800000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141526881	141526881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141526881C>T	ENST00000389484.3	-	35	6630	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			CTGATTCCTTCATGAACAGAG	0.403000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775521	0.90195	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	L	0.33485	1.01	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.87270	0.2285	10	0.08381	T	0.77	.	19.5947	0.95530	0.0:1.0:0.0:0.0	.	1887	Q9NZR2	LRP1B_HUMAN	K	1887;1825	ENSP00000374135:E1887K	ENSP00000374135:E1887K	E	-	1	0	LRP1B	141243351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.636000	0.89361	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1	27	232	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	27	230	0	45	2								-3.142712	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.950000	1.000000	1.000000	0.996889	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141533752	141533752	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141533752T>G	ENST00000389484.3	-	33	6386	c.5415A>C	c.(5413-5415)aaA>aaC	p.K1805N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			TTCCGTCTCTTTTGCTGCAGG	0.383000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532527	0.64972	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91843	-2.92	5.69	4.54	0.55810	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.94101	3.495	0.46096	D	0.998861	D	0.76494	0.999	D	0.80764	0.994	D	0.96344	0.9253	10	0.56958	D	0.05	.	11.3858	0.49785	0.0:0.0704:0.0:0.9296	.	1805	Q9NZR2	LRP1B_HUMAN	N	1805;1743	ENSP00000374135:K1805N	ENSP00000374135:K1805N	K	-	3	2	LRP1B	141250222	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.091000	0.41691	1.010000	0.39314	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	31	358	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	31	348	0	57	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.740000	1.000000	1.000000	0.965382	0.990000	1	9.000000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141607868	141607868	+	Missense_Mutation	SNP	C	C	T	rs148341635	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141607868C>T	ENST00000389484.3	-	29	5713	c.4742G>A	c.(4741-4743)cGt>cAt	p.R1581H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			GATTTCAGAACGTCTTGCATA	0.318000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	C	14.46	2.542902	0.45280	0.001816	0.0	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91631	-2.88;1.47	5.54	2.73	0.32206	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.88388	0.6423	L	0.56199	1.76	0.42541	D	0.993077	D;B	0.69078	0.997;0.001	D;B	0.64595	0.927;0.001	D	0.88028	0.2773	10	0.62326	D	0.03	.	8.6756	0.34176	0.0:0.6986:0.0:0.3014	.	764;1581	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1581;1519;726	ENSP00000374135:R1581H;ENSP00000413239:R726H	ENSP00000374135:R1581H	R	-	2	0	LRP1B	141324338	0.059000	0.20769	0.942000	0.38095	0.710000	0.40934	0.493000	0.22451	0.283000	0.22279	-0.657000	0.03884	CGT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	16	171	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	9.999383e-01	16	168	0	42	2								-19.995720	1	1	121406	34	45	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.700000	1.000000	1.000000	0.967079	0.990000	1	9.200000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141641588	141641588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141641588C>T	ENST00000389484.3	-	25	4938	c.3967G>A	c.(3967-3969)Gtc>Atc	p.V1323I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			ATGGCACTGACACCTACAAAA	0.453000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177576	0.21787	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96265	-2.79;-3.96	5.54	5.54	0.83059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.93455	0.7912	N	0.25144	0.715	0.52501	D	0.999953	B;D	0.53312	0.277;0.959	B;B	0.43950	0.145;0.437	D	0.92742	0.6209	10	0.33940	T	0.23	.	19.8426	0.96695	0.0:1.0:0.0:0.0	.	506;1323	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1323;1261;468	ENSP00000374135:V1323I;ENSP00000413239:V468I	ENSP00000374135:V1323I	V	-	1	0	LRP1B	141358058	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.728000	0.68531	2.751000	0.94390	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	35	351	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	34	344	0	86	2								-20.000000	1	1	121398	1	28	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.860000	1.000000	1.000000	0.990635	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141660727	141660727	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141660727A>G	ENST00000389484.3	-	23	4499	c.3528T>C	c.(3526-3528)tgT>tgC	p.C1176C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			TGTTCAGCGAACACTCATCTA	0.393000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001819	synonymous_variant			ENST00000389484.3	1	1	hg19	CCDS2182.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	0	7	257	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	9.793636e-01	7	251	0	61	2								-8.624247	1	1	121402	11	41	1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.410000	0.170000	1.000000	0.340000	0.524210	0.410000	0	2.600000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141665573	141665573	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141665573A>G	ENST00000389484.3	-	22	4364	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			AGAAACTGTCACAGTCATCTT	0.448000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001819	synonymous_variant			ENST00000389484.3	1	1	hg19	CCDS2182.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	126	298	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	122	293	0	72	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141747212	141747212	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141747212G>A	ENST00000389484.3	-	17	3630	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			TGATCATCAGGACAGCTATGA	0.383000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815714	0.70912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95001	-3.58	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.91399	0.7286	N	0.21508	0.67	0.52501	D	0.999958	P	0.45672	0.864	P	0.48368	0.575	D	0.87747	0.2589	10	0.02654	T	1	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	887	Q9NZR2	LRP1B_HUMAN	S	887;825	ENSP00000374135:P887S	ENSP00000374135:P887S	P	-	1	0	LRP1B	141463682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.748000	0.85085	2.840000	0.97914	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	38	454	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	37	439	0	89	2								-10.491080	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.740000	1.000000	1.000000	0.960164	0.990000	1	8.800000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141806690	141806690	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141806690T>C	ENST00000389484.3	-	11	2625	c.1654A>G	c.(1654-1656)Ata>Gta	p.I552V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			AGATTTTCTATGGGGATCATG	0.423000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477058	0.26511	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.93158	0.7821	L	0.55481	1.735	0.50632	D	0.999882	D	0.59357	0.985	D	0.67548	0.952	D	0.91523	0.5236	10	0.24483	T	0.36	.	15.592	0.76537	0.0:0.0:0.0:1.0	.	552	Q9NZR2	LRP1B_HUMAN	V	552;490	ENSP00000374135:I552V	ENSP00000374135:I552V	I	-	1	0	LRP1B	141523160	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.929000	0.87595	2.074000	0.62210	0.460000	0.39030	ATA		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	0	73	823	0	145	0	6.874751e-03	0	2	0	145	2		0	0	0	0	0	2	1	1	72	811	0	143	2								-17.077590	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.850000	1.000000	1.000000	0.984804	0.990000	1	9.600000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141986788	141986788	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141986788C>T	ENST00000389484.3	-	6	1785	c.814G>A	c.(814-816)Gat>Aat	p.D272N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			GTCCATTCATCTGTTAATCCT	0.318000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	1	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936743	0.73557	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90676	-2.71	5.2	4.31	0.51392	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.270481	0.30930	U	0.008597	D	0.83317	0.5228	L	0.29908	0.895	0.30447	N	0.775605	B	0.09022	0.002	B	0.06405	0.002	T	0.72676	-0.4221	10	0.13470	T	0.59	.	13.7859	0.63110	0.0:0.9233:0.0:0.0767	.	272	Q9NZR2	LRP1B_HUMAN	N	272;210	ENSP00000374135:D272N	ENSP00000374135:D272N	D	-	1	0	LRP1B	141703258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.482000	0.45224	2.440000	0.82611	0.585000	0.79938	GAT		TCGA-IB-7651-01A-11D-2154-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	0	12	365	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.990622e-01	12	359	0	77	2								-3.328370	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.470000	0.240000	1.000000	0.410000	0.567754	0.470000	0	3.300000e-01	1
KYNU	8942	broad.mit.edu	37	2	143685260	143685260	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143685260C>A	ENST00000410015.2	+	4	413	c.323C>A	c.(322-324)cCt>cAt	p.P108H	KYNU_ENST00000375773.2_Missense_Mutation_p.P108H|KYNU_ENST00000409512.1_Missense_Mutation_p.P108H|KYNU_ENST00000264170.4_Missense_Mutation_p.P108H					kynureninase			36					GGGAAGCGTCCTTGGATTACA	0.363000																								0							SO:0001583	missense			ENST00000410015.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.3	4.134064	0.77662	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	T;T;T	0.54675	0.56;0.56;0.56	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.92970	3.365	0.48135	D	0.999597	D;D	0.89917	0.998;1.0	D;D	0.91635	0.969;0.999	D	0.83707	0.0185	10	0.72032	D	0.01	.	16.9558	0.86259	0.0:1.0:0.0:0.0	.	108;108	Q16719;Q9BVW3	KYNU_HUMAN;.	H	108	ENSP00000264170:P108H;ENSP00000364928:P108H;ENSP00000386731:P108H	ENSP00000264170:P108H	P	+	2	0	KYNU	143401730	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.831000	0.62752	2.792000	0.96026	0.557000	0.71058	CCT		TCGA-IB-7651-01A-11D-2154-08	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	1	0	1	212	476	0	112	1	1	23	57	0	112	2		0	0	0	0	0	2	1	1	207	472	0	111	2								-13.787740	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KYNU	8942	broad.mit.edu	37	2	143742745	143742745	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143742745C>A	ENST00000264170.4	+	9	1080	c.822C>A	c.(820-822)tcC>tcA	p.S274S	KYNU_ENST00000375773.2_Silent_p.S274S|KYNU_ENST00000409512.1_Silent_p.S274S	NM_003937.2	NP_003928.1			kynureninase			36					GCTGGTGTTCCTACAAGGTAC	0.393000																								0							SO:0001819	synonymous_variant			ENST00000264170.4	1	1	hg19	CCDS2183.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	1	0	0	33	402	0	65	1	9.901680e-01	6	84	0	65	2		0	0	0	0	0	2	1	1	32	397	0	64	2								-2.642100	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.710000	1.000000	1.000000	0.951702	0.990000	1	8.600000e-01	1
ARHGAP15	55843	broad.mit.edu	37	2	143959710	143959710	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143959710G>T	ENST00000295095.6	+	3	340	c.173G>T	c.(172-174)aGa>aTa	p.R58I	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.R58I	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15			34					CAGATATCCAGACACAGAAGG	0.303000																								0							SO:0001583	missense			ENST00000295095.6	1	1	hg19	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612348	0.87258	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08282	3.11	5.61	5.61	0.85477	.	0.068772	0.64402	D	0.000014	T	0.19087	0.0458	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.71184	0.972;0.495	T	0.02064	-1.1220	10	0.27082	T	0.32	.	17.8083	0.88608	0.0:0.0:1.0:0.0	.	58;58	B4E0R3;Q53QZ3	.;RHG15_HUMAN	I	58	ENSP00000295095:R58I	ENSP00000295095:R58I	R	+	2	0	ARHGAP15	143676180	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.321000	0.72881	2.646000	0.89796	0.585000	0.79938	AGA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	1	0	1	57	237	0	96	0	9.980541e-01	0	42	0	96	2		0	0	0	0	0	2	1	1	57	235	0	96	2								-20.000000	1	0	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP15	55843	broad.mit.edu	37	2	143974006	143974006	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143974006G>A	ENST00000295095.6	+	4	455	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ARHGAP15_ENST00000409869.1_Silent_p.K96K	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15			34					ATGGAGGAAAGAAACTAAGGT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000295095.6	1	1	hg19	CCDS2184.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	1	0	0	23	219	0	64	0	8.900119e-01	0	39	0	64	2		0	0	0	0	0	2	1	9.999995e-01	23	219	0	64	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.840000	1.000000	1.000000	0.989438	0.990000	1	9.900000e-01	1
GTDC1	79712	broad.mit.edu	37	2	144764985	144764985	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:144764985A>G	ENST00000392869.2	-	6	791	c.639T>C	c.(637-639)gaT>gaC	p.D213D	GTDC1_ENST00000542155.1_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000463875.2_Silent_p.D84D|GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000409214.1_Silent_p.D213D	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1			25					TCTTCAATAAATCCTCTGAAT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000392869.2	1	1	hg19	CCDS33300.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	1	0	0	35	373	0	68	1	5.556388e-01	2	19	0	68	2		0	0	0	0	0	2	1	1	35	369	0	67	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.810000	1.000000	1.000000	0.983360	0.990000	1	9.800000e-01	1
ZEB2	9839	broad.mit.edu	37	2	145147139	145147139	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145147139T>C	ENST00000558170.2	-	10	4708	c.3524A>G	c.(3523-3525)gAt>gGt	p.D1175G	ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2			107					CGTTTCGGGATCCGTATCCAT	0.493000													Melanoma(33;1235 1264 5755 16332)											0							SO:0001583	missense			ENST00000558170.2	1	1	hg19	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396880	0.83120	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15017	2.49;2.46;2.46	5.51	5.51	0.81932	.	0.091701	0.64402	D	0.000001	T	0.11367	0.0277	N	0.08118	0	0.80722	D	1	B;B;B	0.20780	0.02;0.048;0.048	B;B;B	0.19946	0.027;0.012;0.012	T	0.10800	-1.0614	10	0.87932	D	0	-15.0669	15.9314	0.79663	0.0:0.0:0.0:1.0	.	1151;1174;1175	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	G	1151;1175;1175	ENSP00000443792:D1151G;ENSP00000302501:D1175G;ENSP00000386854:D1175G	ENSP00000302501:D1175G	D	-	2	0	ZEB2	144863609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.217000	0.71921	0.482000	0.46254	GAT		TCGA-IB-7651-01A-11D-2154-08	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	0	96	1085	0	180	0	9.999601e-01	0	159	0	180	2		0	0	0	0	0	2	1	1	93	1060	0	178	2								-19.949440	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.870000	1.000000	1.000000	0.987671	0.990000	1	9.700000e-01	1
ZEB2	9839	broad.mit.edu	37	2	145155993	145155993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145155993G>A	ENST00000558170.2	-	8	3945	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2			107					GGGTATGGTCGTAGCCCAGGA	0.498000													Melanoma(33;1235 1264 5755 16332)											0		GRCh37	CM052018	ZEB2	M		SO:0001587	stop_gained			ENST00000558170.2	0	1	hg19	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	39	7.517277	0.98332	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6124	15.7551	0.78018	0.0:0.0:0.863:0.137	.	.	.	.	X	897;921;921	.	ENSP00000302501:R921X	R	-	1	2	ZEB2	144872463	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.499000	0.53310	2.763000	0.94921	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	0	58	602	0	168	0	9.998947e-01	0	138	0	168	2		0	0	0	0	0	2	1	1	57	594	0	166	2								-15.020920	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.890000	1.000000	1.000000	0.993198	0.990000	1	9.900000e-01	1
ZEB2	9839	broad.mit.edu	37	2	145156911	145156911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145156911G>A	ENST00000558170.2	-	8	3027	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2			107					TCATGAGGCTGCAGGACCGCC	0.443000													Melanoma(33;1235 1264 5755 16332)											0		GRCh37	CM072129	ZEB2	M		SO:0001587	stop_gained			ENST00000558170.2	0	1	hg19	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082755	0.94050	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	.	.	.	5.75	5.75	0.90469	.	0.048076	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.9462	19.9507	0.97198	0.0:0.0:1.0:0.0	.	.	.	.	X	591;615;615;615	.	ENSP00000302501:Q615X	Q	-	1	0	ZEB2	144873381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.872000	0.87187	2.705000	0.92388	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	1	117	244	0	92	0	1	0	124	0	92	2		0	0	0	0	0	2	1	1	117	241	0	91	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZEB2	9839	broad.mit.edu	37	2	145161567	145161567	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145161567A>G	ENST00000558170.2	-	6	1907	c.723T>C	c.(721-723)ttT>ttC	p.F241F	ZEB2_ENST00000303660.4_Silent_p.F241F|ZEB2_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000539609.3_Silent_p.F217F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2			107					GAGGGCAGGAAAAGTTCTCTT	0.562000													Melanoma(33;1235 1264 5755 16332)											0							SO:0001819	synonymous_variant			ENST00000558170.2	1	1	hg19	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	6.344	0.431506	0.12045	.	.	ENSG00000169554	ENST00000419938	T	0.32988	1.43	5.65	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19647	-1.0299	7	0.72032	D	0.01	-9.4435	8.6271	0.33897	0.6345:0.0:0.3655:0.0	.	.	.	.	S	130	ENSP00000394777:F130S	ENSP00000394777:F130S	F	-	2	0	ZEB2	144878037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.639000	0.37176	0.118000	0.18165	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	1	69	603	0	150	0	9.974017e-01	0	79	0	150	2		0	0	0	0	0	2	1	1	66	582	0	145	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	0.999771	0.990000	1	9.900000e-01	1
ZEB2	9839	broad.mit.edu	37	2	145187540	145187540	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145187540T>C	ENST00000558170.2	-	3	1311	c.127A>G	c.(127-129)Aag>Gag	p.K43E	ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2			107					ATATGAAGCTTGTCTTCCTCA	0.488000													Melanoma(33;1235 1264 5755 16332)											0							SO:0001583	missense			ENST00000558170.2	1	1	hg19	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766447	0.69878	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831;ENST00000444559	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.9	5.9	0.94986	.	0.047892	0.85682	D	0.000000	D	0.92512	0.7622	M	0.70595	2.14	0.58432	D	0.999999	P;P;D;B;B	0.67145	0.804;0.622;0.996;0.39;0.39	B;B;P;B;B	0.55923	0.213;0.152;0.787;0.074;0.074	D	0.93282	0.6661	10	0.87932	D	0	-15.9296	16.3291	0.83001	0.0:0.0:0.0:1.0	.	43;43;43;43;43	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315	.;.;.;.;ZEB2_HUMAN	E	38;43;43;43;43;43;43;43;43	ENSP00000443792:K43E;ENSP00000302501:K43E;ENSP00000386854:K43E;ENSP00000395496:K43E;ENSP00000376601:K43E;ENSP00000387256:K43E;ENSP00000400993:K43E;ENSP00000399451:K43E	ENSP00000302501:K43E	K	-	1	0	ZEB2	144904010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.586000	0.82596	2.257000	0.74773	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	1	0	1	99	245	0	73	0	1	0	82	0	73	2		0	0	0	0	0	2	1	1	97	238	0	73	2								-20.000000	1	1	0	0		1	1	3	4	2.004602	1	0.170000	2.060000	2.514430e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPO	7173	broad.mit.edu	37	2	1457548	1457548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1457548C>T	ENST00000345913.4	+	6	656	c.565C>T	c.(565-567)Cga>Tga	p.R189*	TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase			95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGTCAGCCCCGAGGCTGGAA	0.602000																								0							SO:0001587	stop_gained			ENST00000345913.4	0	1	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537771	0.65085	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.	.	.	5.27	-4.71	0.03279	.	0.293852	0.35970	N	0.002873	.	.	.	.	.	.	0.42641	D	0.993417	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.4783	20.418	0.99029	0.2731:0.7269:0.0:0.0	.	.	.	.	X	189;189;189;189;189;189;189;118	.	ENSP00000329869:R189X	R	+	1	2	TPO	1436555	0.006000	0.16342	0.087000	0.20705	0.615000	0.37417	1.309000	0.33539	-1.228000	0.02568	-0.474000	0.04947	CGA		TCGA-IB-7651-01A-11D-2154-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	0	1	118	367	1	76		0	0	0	1	76	2		0	0	0	0	0	2	1	1	116	358	1	72	21								-4.888124	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPO	7173	broad.mit.edu	37	2	1459850	1459850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1459850C>T	ENST00000345913.4	+	7	706	c.615C>T	c.(613-615)gtC>gtT	p.V205V	TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase			95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTACCCAGGTCCGGGAGGTGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000345913.4	1	1	hg19	CCDS1643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1	42	113	0	18	0	3.035584e-01	1	3	0	18	2		0	0	0	0	0	2	1	1	41	108	0	17	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM84A	151354	broad.mit.edu	37	2	14774144	14774144	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774144G>T	ENST00000295092.2	+	2	329	c.41G>T	c.(40-42)aGc>aTc	p.S14I	FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A			10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)		CTCAACTACAGCGAGTTGCCC	0.617000																								0							SO:0001583	missense			ENST00000295092.2	1	1	hg19	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242236	0.79912	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.04119	3.7;3.7	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.01305	-1.1390	10	0.72032	D	0.01	-21.0837	17.3365	0.87282	0.0:0.0:1.0:0.0	.	14	Q96KN4	FA84A_HUMAN	I	14	ENSP00000295092:S14I;ENSP00000330681:S14I	ENSP00000295092:S14I	S	+	2	0	FAM84A	14691595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.900000	0.63252	2.369000	0.80426	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	1	0	1	26	156	0	44	1	9.987320e-01	11	55	0	44	2		0	0	0	0	0	2	1	1	26	155	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
FAM84A	151354	broad.mit.edu	37	2	14774452	14774452	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774452C>A	ENST00000295092.2	+	2	637	c.349C>A	c.(349-351)Cca>Aca	p.P117T	FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A			10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)		CACCGCGCTGCCAGCGCTCTG	0.706000																								0							SO:0001583	missense			ENST00000295092.2	1	1	hg19	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745272|3.745272	0.69418|0.69418	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000295092;ENST00000331243;ENST00000359969	.|T;T	.|0.03635	.|3.86;3.86	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.064498	.|0.64402	.|D	.|0.000007	T|T	0.06962|0.06962	0.0177|0.0177	L|L	0.43152|0.43152	1.355|1.355	0.39240|0.39240	D|D	0.963845|0.963845	.|P	.|0.49447	.|0.924	.|P	.|0.49597	.|0.616	T|T	0.16689|0.16689	-1.0394|-1.0394	6|10	0.87932|0.52906	D|T	0|0.07	-20.9794|-20.9794	11.112|11.112	0.48239|0.48239	0.0:0.9147:0.0:0.0853|0.0:0.9147:0.0:0.0853	.|.	.|117	.|Q96KN4	.|FA84A_HUMAN	D|T	24|117	.|ENSP00000295092:P117T;ENSP00000330681:P117T	ENSP00000443261:A24D|ENSP00000295092:P117T	A|P	+|+	2|1	0|0	FAM84A|FAM84A	14691903|14691903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.210000|3.210000	0.51129|0.51129	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GCC|CCA		TCGA-IB-7651-01A-11D-2154-08	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	1	0	0	18	67	0	16	1	9.972170e-01	7	33	0	16	2		0	0	0	0	0	2	1	9.999909e-01	18	66	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
FAM84A	151354	broad.mit.edu	37	2	14774697	14774697	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774697C>T	ENST00000295092.2	+	2	882	c.594C>T	c.(592-594)ggC>ggT	p.G198G	FAM84A_ENST00000331243.4_Silent_p.G198G|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A			10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)		ACGCCTGCGGCCACCTGGGCC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000295092.2	0	1	hg19	CCDS1684.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	1	0	0	14	30	0	12	1	9.998470e-01	14	27	0	12	2		0	0	0	0	0	2	1	9.998723e-01	13	29	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FAM84A	151354	broad.mit.edu	37	2	14774877	14774877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774877G>A	ENST00000295092.2	+	2	1062	c.774G>A	c.(772-774)agG>agA	p.R258R	FAM84A_ENST00000331243.4_Silent_p.R258R|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A			10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)		ACACCGCCAGGTTTCACAGCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000295092.2	1	1	hg19	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.49|10.49	1.364511|1.364511	0.24684|0.24684	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000359969	.|.	.|.	.|.	4.14|4.14	1.01|1.01	0.19927|0.19927	.|.	.|0.561393	.|0.18805	.|N	.|0.130682	.|T	.|0.48519	.|0.1504	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19224	.|-1.0312	.|6	.|0.10377	.|T	.|0.69	.|-3.1899	13.8597|13.8597	0.63552|0.63552	0.0:0.4444:0.5556:0.0|0.0:0.4444:0.5556:0.0	.|.	.|.	.|.	.|.	.|D	-1|203	.|.	.|ENSP00000353054:G203D	.|G	+|+	.|2	.|0	FAM84A|FAM84A	14692328|14692328	0.982000|0.982000	0.34865|0.34865	0.964000|0.964000	0.40570|0.40570	0.994000|0.994000	0.84299|0.84299	0.211000|0.211000	0.17474|0.17474	0.073000|0.073000	0.16731|0.16731	0.455000|0.455000	0.32223|0.32223	.|GGT		TCGA-IB-7651-01A-11D-2154-08	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	1	0	1	58	134	0	26	1	1	36	30	0	26	2		0	0	0	0	0	2	1	1	57	132	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACVR2A	92	broad.mit.edu	37	2	148680620	148680620	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148680620G>A	ENST00000241416.7	+	9	1792	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N|ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA			45					TTTGAGGATAGATATGTATGC	0.398000																								0							SO:0001583	missense			ENST00000241416.7	1	1	hg19	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804209	0.96967	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.99394	-5.82;-5.82;-5.82	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97380	0.9982	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	386	P27037	AVR2A_HUMAN	N	386;278;386	ENSP00000241416:D386N;ENSP00000439988:D278N;ENSP00000384338:D386N	ENSP00000241416:D386N	D	+	1	0	ACVR2A	148397090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.629000	0.98417	2.941000	0.99782	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	0	0	0	33	973	0	189	0	4.136054e-01	1	41	0	189	2	1	1	21	873	0	722	2	1	1	33	958	0	188	2								-3.292434	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.410000	0.290000	0.570000	0.420000	0.429162	0.410000	0	3.500000e-01	5.000000e-01
MBD5	55777	broad.mit.edu	37	2	149243447	149243447	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149243447G>A	ENST00000407073.1	+	11	3979	c.2982G>A	c.(2980-2982)gcG>gcA	p.A994A	MBD5_ENST00000404807.1_Silent_p.A1227A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	p.A994A(1)		62					ATCTCCAGGCGTTCCAAGGAC	0.458000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000407073.1	1	1	hg19	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371559	0.24771	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.47	-3.25	0.05079	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37267	-0.9713	4	.	.	.	-1.8256	2.4518	0.04520	0.2503:0.4233:0.1571:0.1693	.	.	.	.	H	967	.	.	R	+	2	0	MBD5	148959917	0.710000	0.27896	0.997000	0.53966	0.993000	0.82548	-0.194000	0.09559	-0.164000	0.10927	-0.469000	0.05056	CGT		TCGA-IB-7651-01A-11D-2154-08	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	1	0	1	110	340	0	106	1	9.985808e-01	14	19	0	106	2		0	0	0	0	0	2	1	1	108	327	0	105	2								-5.237775	1	1	121412	4	38	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBD5	55777	broad.mit.edu	37	2	149247325	149247325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149247325C>T	ENST00000407073.1	+	12	4422	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V	MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	p.A1142V(1)		62					GCTGTCAGTGCGGTCATTCAT	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000407073.1	1	1	hg19	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656975	0.67586	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.72;0.8	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.57036	0.2026	N	0.24115	0.695	0.42409	D	0.992599	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.922	T	0.60885	-0.7174	10	0.87932	D	0	-4.5322	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1375;1142	E9PHH0;Q9P267	.;MBD5_HUMAN	V	1142;1375	ENSP00000386049:A1142V;ENSP00000384672:A1375V	ENSP00000384672:A1375V	A	+	2	0	MBD5	148963795	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	5.016000	0.64041	2.894000	0.99253	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	1	0	1	113	288	0	72	0	9.706507e-01	1	16	0	72	2		0	0	0	0	0	2	1	1	112	283	0	72	2								-7.649016	1	1	121412	1	32	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBD5	55777	broad.mit.edu	37	2	149248116	149248116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248116G>T	ENST00000407073.1	+	12	5213	c.4216G>T	c.(4216-4218)Gaa>Taa	p.E1406*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5			62					ATTAGTAAGAGAAGACGACGT	0.403000																								0							SO:0001587	stop_gained			ENST00000407073.1	0	1	hg19	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	50	17.259051	0.99882	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.1386	20.0628	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	X	1406;1639	.	ENSP00000384672:E1639X	E	+	1	0	MBD5	148964586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.195000	0.94971	2.745000	0.94114	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	1	0	0	30	355	0	85	0	5.048950e-01	0	21	0	85	2		0	0	0	0	0	2	1	1	30	345	0	84	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.690000	1.000000	1.000000	0.937442	0.990000	1	8.300000e-01	1
MBD5	55777	broad.mit.edu	37	2	149248121	149248121	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248121C>T	ENST00000407073.1	+	12	5218	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	MBD5_ENST00000404807.1_Silent_p.D1640D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5			62					TAAGAGAAGACGACGTTCACA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000407073.1	1	1	hg19	CCDS33302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	1	0	1	110	273	0	84	1	9.934099e-01	4	18	0	84	2		0	0	0	0	0	2	1	1	109	264	0	83	2								-20.000000	1	0	121412	2	31	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPC2	26122	broad.mit.edu	37	2	149519453	149519453	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149519453A>G	ENST00000258484.6	+	5	803	c.769A>G	c.(769-771)Aca>Gca	p.T257A		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)			13					AAGAGAGAAAACAAAACGAGA	0.343000																								0							SO:0001583	missense			ENST00000258484.6	1	1	hg19	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328373	0.60743	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.6	5.6	0.85130	.	0.115719	0.56097	D	0.000030	T	0.45438	0.1342	N	0.26042	0.785	0.80722	D	1	B	0.26744	0.158	B	0.22880	0.042	T	0.34775	-0.9815	9	0.30854	T	0.27	-4.0144	15.7881	0.78326	1.0:0.0:0.0:0.0	.	257	Q52LR7	EPC2_HUMAN	A	257	.	ENSP00000258484:T257A	T	+	1	0	EPC2	149235923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.309000	0.59135	2.137000	0.66172	0.482000	0.46254	ACA		TCGA-IB-7651-01A-11D-2154-08	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	1	0	1	16	62	0	23	1	9.999525e-01	21	54	0	23	2		0	0	0	0	0	2	1	9.999574e-01	16	60	0	23	2								-12.599580	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
EPC2	26122	broad.mit.edu	37	2	149528914	149528914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528914G>A	ENST00000258484.6	+	10	1712	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)			13					AGTTTCTGCAGCATCTGTAGC	0.373000																								0							SO:0001583	missense			ENST00000258484.6	1	1	hg19	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191585	0.38707	.	.	ENSG00000135999	ENST00000258484	T	0.20598	2.06	5.34	5.34	0.76211	.	0.125508	0.52532	D	0.000061	T	0.10766	0.0263	N	0.03608	-0.345	0.80722	D	1	B	0.20780	0.048	B	0.21708	0.036	T	0.21143	-1.0254	10	0.30854	T	0.27	-4.3089	14.1134	0.65137	0.0:0.1499:0.8501:0.0	.	560	Q52LR7	EPC2_HUMAN	T	560	ENSP00000258484:A560T	ENSP00000258484:A560T	A	+	1	0	EPC2	149245384	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.340000	0.52143	2.646000	0.89796	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	1	0	1	108	504	0	128	1	9.999916e-01	10	69	0	128	2		0	0	0	0	0	2	1	1	108	498	0	127	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPC2	26122	broad.mit.edu	37	2	149528924	149528924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528924C>T	ENST00000258484.6	+	10	1722	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)			13					GCATCTGTAGCTTTATTGAAC	0.368000																								0							SO:0001583	missense			ENST00000258484.6	1	1	hg19	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055286	0.55325	.	.	ENSG00000135999	ENST00000258484	T	0.17054	2.3	5.34	5.34	0.76211	.	0.178765	0.49305	D	0.000151	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.25257	-1.0137	10	0.28530	T	0.3	-3.0814	19.4043	0.94642	0.0:1.0:0.0:0.0	.	563	Q52LR7	EPC2_HUMAN	V	563	ENSP00000258484:A563V	ENSP00000258484:A563V	A	+	2	0	EPC2	149245394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.161000	0.58170	2.646000	0.89796	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	1	0	1	87	514	0	122	1	9.998756e-01	10	68	0	122	2		0	0	0	0	0	2	1	1	84	509	0	122	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPO	7173	broad.mit.edu	37	2	1497599	1497599	+	Silent	SNP	C	C	T	rs141377851	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1497599C>T	ENST00000345913.4	+	11	1885	c.1794C>T	c.(1792-1794)tgC>tgT	p.C598C	TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000337415.3_Silent_p.C598C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.C425C|TPO_ENST00000346956.3_Silent_p.C598C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase			95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGTTCTGCGGCCTGCCTC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000345913.4	1	1	hg19	CCDS1643.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.275	-0.990244	0.02162	0.004993	0.0	ENSG00000115705	ENST00000446278	.	.	.	4.84	-6.83	0.01693	.	.	.	.	.	T	0.63200	0.2491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66752	-0.5844	4	.	.	.	-32.4367	16.0715	0.80940	0.0:0.2598:0.0:0.7402	.	.	.	.	V	73	.	.	A	+	2	0	TPO	1476606	0.956000	0.32656	0.002000	0.10522	0.008000	0.06430	0.013000	0.13310	-1.368000	0.02149	-1.300000	0.01332	GCG		TCGA-IB-7651-01A-11D-2154-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	0	12	174	0	40	0	5.122143e-03	0	2	0	40	2		0	0	0	0	0	2	1	9.991595e-01	12	172	0	40	2								-10.107080	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.840000	0.460000	1.000000	1.000000	0.823368	0.840000	0	6.300000e-01	1
RND3	390	broad.mit.edu	37	2	151326722	151326722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:151326722C>T	ENST00000375734.2	-	5	763	c.514G>A	c.(514-516)Gct>Act	p.A172T	RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Missense_Mutation_p.A43T|RND3_ENST00000263895.4_Missense_Mutation_p.A172T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3			13					ATATAAGTAGCTGCTCCAATC	0.403000																								0							SO:0001583	missense			ENST00000375734.2	1	1	hg19	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952131	0.73787	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.77229	-1.08;-1.08;-1.08	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	N	0.12853	0.265	0.80722	D	1	D;D;D	0.60575	0.988;0.976;0.976	D;P;P	0.73708	0.981;0.625;0.697	T	0.83249	-0.0054	10	0.66056	D	0.02	-3.7331	19.0713	0.93138	0.0:1.0:0.0:0.0	.	35;171;172	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	172;172;43	ENSP00000364886:A172T;ENSP00000263895:A172T;ENSP00000386576:A43T	ENSP00000263895:A172T	A	-	1	0	RND3	151034968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.793000	0.85851	2.751000	0.94390	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	1	0	1	109	304	0	61	1	1	36	111	0	61	2		0	0	0	0	0	2	1	1	107	299	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIF1	55183	broad.mit.edu	37	2	152298469	152298469	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152298469A>G	ENST00000243326.5	+	15	2181	c.1698A>G	c.(1696-1698)tcA>tcG	p.S566S	RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000428287.2_Silent_p.S566S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1			97					TATTAGGTTCACCAGCATATC	0.299000																								0							SO:0001819	synonymous_variant			ENST00000243326.5	1	1	hg19	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	9.222	1.033723	0.19590	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.4	1.14	0.20703	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	-12.2918	6.4219	0.21748	0.5636:0.0:0.0744:0.362	.	.	.	.	A	558	.	.	T	+	1	0	RIF1	152006715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.265000	0.33027	0.361000	0.24292	0.528000	0.53228	ACC		TCGA-IB-7651-01A-11D-2154-08	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	0	0	0	6	237	0	64	1	4.584839e-01	2	54	0	64	2		0	0	0	0	0	2	1	9.636937e-01	6	233	0	64	2								-3.142937	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.330000	0.130000	0.640000	0.310000	0.359821	0.330000	0	2.200000e-01	4.900000e-01
RIF1	55183	broad.mit.edu	37	2	152311610	152311610	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152311610C>A	ENST00000243326.5	+	21	3029	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1			97					TCTTTGCCTTCTATGATCCGA	0.358000																								0							SO:0001583	missense			ENST00000243326.5	1	1	hg19	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.861107|3.861107	0.71949|0.71949	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.|T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32	5.55|5.55	4.68|4.68	0.58851|0.58851	.|.	.|0.189056	.|0.46758	.|D	.|0.000273	T|T	0.79845|0.79845	0.4516|0.4516	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.994;0.999	T|T	0.81998|0.81998	-0.0675|-0.0675	5|10	.|0.72032	.|D	.|0.01	-5.8134|-5.8134	14.3304|14.3304	0.66553|0.66553	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	.|849;849	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	L|Y	840|849	.|ENSP00000390181:S849Y;ENSP00000414615:S849Y;ENSP00000415691:S849Y;ENSP00000243326:S849Y;ENSP00000416123:S849Y	.|ENSP00000243326:S849Y	F|S	+|+	3|2	2|0	RIF1|RIF1	152019856|152019856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.074000|3.074000	0.50065|0.50065	1.349000|1.349000	0.45751|0.45751	0.655000|0.655000	0.94253|0.94253	TTC|TCT		TCGA-IB-7651-01A-11D-2154-08	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	1	0	1	117	523	0	103	1	9.998314e-01	12	46	0	103	2		0	0	0	0	0	2	1	1	116	517	0	102	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIF1	55183	broad.mit.edu	37	2	152320230	152320230	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152320230T>C	ENST00000243326.5	+	29	4679	c.4196T>C	c.(4195-4197)gTa>gCa	p.V1399A	RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A|RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1			97					GATCAAATGGTAAATGAGGAT	0.378000																								0							SO:0001583	missense			ENST00000243326.5	1	1	hg19	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	4.390	0.071927	0.08436	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.31	2.89	0.33648	.	1.118960	0.06579	N	0.749939	T	0.26304	0.0642	L	0.56769	1.78	0.09310	N	1	B;B	0.26081	0.087;0.141	B;B	0.24006	0.022;0.05	T	0.33624	-0.9861	10	0.17832	T	0.49	-4.3188	2.2769	0.04104	0.1508:0.1075:0.1553:0.5865	.	1399;1399	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	1399	ENSP00000390181:V1399A;ENSP00000414615:V1399A;ENSP00000415691:V1399A;ENSP00000243326:V1399A;ENSP00000416123:V1399A	ENSP00000243326:V1399A	V	+	2	0	RIF1	152028476	0.001000	0.12720	0.841000	0.33234	0.287000	0.27160	0.326000	0.19646	0.820000	0.34516	0.455000	0.32223	GTA		TCGA-IB-7651-01A-11D-2154-08	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	1	0	1	142	408	0	117	1	9.999999e-01	24	43	0	117	2		0	0	0	0	0	2	1	1	140	403	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIF1	55183	broad.mit.edu	37	2	152321120	152321120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152321120G>T	ENST00000243326.5	+	29	5569	c.5086G>T	c.(5086-5088)Gaa>Taa	p.E1696*	RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1			97					TAGTTTGGGAGAATCCTCAAA	0.368000																								0							SO:0001587	stop_gained			ENST00000243326.5	0	1	hg19	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	42	9.372762	0.99151	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.21	5.21	0.72293	.	0.650546	0.15593	N	0.254318	.	.	.	.	.	.	0.47949	D	0.999554	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.6011	14.4579	0.67428	0.0:0.0:0.8522:0.1478	.	.	.	.	X	1696	.	ENSP00000243326:E1696X	E	+	1	0	RIF1	152029366	0.915000	0.31059	0.025000	0.17156	0.091000	0.18340	2.565000	0.45939	2.581000	0.87130	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	0	0	0	10	290	0	50	0	7.622969e-01	1	80	0	50	2		0	0	0	0	0	2	1	9.967447e-01	10	285	0	50	2								-11.093100	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.440000	0.220000	0.730000	0.420000	0.459859	0.440000	0	3.200000e-01	5.900000e-01
RIF1	55183	broad.mit.edu	37	2	152322075	152322075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322075C>T	ENST00000243326.5	+	29	6524	c.6041C>T	c.(6040-6042)aCg>aTg	p.T2014M	RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M|RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1			97					TCTGAAGAAACGAATACCAAA	0.398000																								0							SO:0001583	missense			ENST00000243326.5	1	1	hg19	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	4.859	0.159683	0.09287	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.12	1.5	0.22942	.	1.526730	0.03207	N	0.175587	T	0.03305	0.0096	N	0.01352	-0.895	0.18873	N	0.999982	B;B	0.15719	0.008;0.014	B;B	0.08055	0.001;0.003	T	0.34403	-0.9830	10	0.33940	T	0.23	0.8415	4.687	0.12762	0.0:0.1799:0.1638:0.6563	.	2014;2014	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	M	2014	ENSP00000390181:T2014M;ENSP00000414615:T2014M;ENSP00000415691:T2014M;ENSP00000243326:T2014M;ENSP00000416123:T2014M	ENSP00000243326:T2014M	T	+	2	0	RIF1	152030321	0.005000	0.15991	0.010000	0.14722	0.003000	0.03518	0.278000	0.18753	0.106000	0.17784	-0.312000	0.09012	ACG		TCGA-IB-7651-01A-11D-2154-08	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	1	0	1	29	160	0	36	1	9.999283e-01	16	70	0	36	2		0	0	0	0	0	2	1	1	27	158	0	35	2								-20.000000	1	0	121406	4	30	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
RIF1	55183	broad.mit.edu	37	2	152322115	152322115	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322115C>T	ENST00000243326.5	+	29	6564	c.6081C>T	c.(6079-6081)ggC>ggT	p.G2027G	RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000428287.2_Silent_p.G2027G			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1			97					TGATGATCGGCGAGGCAATGG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000243326.5	1	1	hg19	CCDS2194.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	0	0	0	9	209	0	37	1	8.917199e-01	3	91	0	37	2		0	0	0	0	0	2	1	9.936195e-01	9	202	0	35	2								-3.075119	1	0	121412	145	49	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.540000	0.270000	0.930000	0.510000	0.569963	0.540000	0	3.900000e-01	7.400000e-01
NEB	4703	broad.mit.edu	37	2	152346952	152346952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152346952G>A	ENST00000172853.10	-	147	19810	c.19663C>T	c.(19663-19665)Cat>Tat	p.H6555Y	RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y|NEB_ENST00000427231.2_Missense_Mutation_p.H8411Y|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000397345.3_Missense_Mutation_p.H8411Y|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y			P20929	NEBU_HUMAN	nebulin			301					GCTTCTGAATGCTCAGACTTC	0.577000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	5.724	0.318107	0.10845	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	T;T;T;T;T;T;T	0.06768	3.4;3.45;3.45;3.26;3.4;4.01;4.19	5.4	5.4	0.78164	.	0.299172	0.36338	N	0.002656	T	0.10078	0.0247	L	0.34521	1.04	0.32086	N	0.592536	P;P;P;D;B;B	0.56521	0.608;0.586;0.459;0.976;0.09;0.002	B;B;B;P;B;B	0.45232	0.099;0.332;0.162;0.474;0.023;0.015	T	0.09618	-1.0666	10	0.20519	T	0.43	.	18.7735	0.91901	0.0:0.0:1.0:0.0	.	324;386;324;6555;2893;8411	B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.;.;.;NEBU_HUMAN;.;.	Y	6555;8411;8411;2511;2893;6555;386;324	ENSP00000386259:H6555Y;ENSP00000380505:H8411Y;ENSP00000416578:H8411Y;ENSP00000410961:H2893Y;ENSP00000172853:H6555Y;ENSP00000380497:H386Y;ENSP00000427083:H324Y	ENSP00000172853:H6555Y	H	-	1	0	NEB	152055198	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.396000	0.52565	2.526000	0.85167	0.462000	0.41574	CAT		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	17	63	0	12	1	9.600099e-01	9	14	0	12	2		0	0	0	0	0	2	1	9.999836e-01	17	63	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152352790	152352790	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152352790C>T	ENST00000172853.10	-	140	19065	c.18918G>A	c.(18916-18918)tcG>tcA	p.S6306S	RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Splice_Site_p.S8162S|NEB_ENST00000409198.1_Splice_Site_p.S6306S|NEB_ENST00000509223.2_Splice_Site_p.S106S|NEB_ENST00000427231.2_Splice_Site_p.S8162S|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Splice_Site_p.S8162S|NEB_ENST00000397345.3_Splice_Site_p.S8162S|NEB_ENST00000397336.2_Splice_Site_p.S137S			P20929	NEBU_HUMAN	nebulin	p.S8162S(1)		301					CGCCAAGTACCGAGCTAATAT	0.333000																								1	Substitution - coding silent(1)						SO:0001630	splice_region_variant			ENST00000172853.10	1	0	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.339299|2.339299	0.41398|0.41398	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000397337	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.74168|0.74168	0.3681|0.3681	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73307|0.73307	-0.4024|-0.4024	4|4	.|.	.|.	.|.	.|.	18.2919|18.2919	0.90133|0.90133	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|Q	308|296	.|.	.|.	G|R	-|-	1|2	0|0	NEB|NEB	152061036|152061036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.995000|6.995000	0.76257|0.76257	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	GGT|CGG		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	30	95	0	13	1	6.102362e-02	2	0	0	13	2		0	0	0	0	0	2	1	1	29	94	0	13	2								-4.141466	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152364595	152364595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152364595G>A	ENST00000172853.10	-	134	18419	c.18272C>T	c.(18271-18273)tCc>tTc	p.S6091F	NEB_ENST00000603639.1_Missense_Mutation_p.S7792F|NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000509223.2_5'Flank|NEB_ENST00000427231.2_Missense_Mutation_p.S7792F|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000397345.3_Missense_Mutation_p.S7792F			P20929	NEBU_HUMAN	nebulin			301					ATACGACATGGACTTCTCAGC	0.418000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178357|3.178357	0.57692|0.57692	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78	5.35|5.35	0.993|0.993	0.19825|0.19825	.|.	.|0.510406	.|0.20688	.|N	.|0.087515	T|T	0.50871|0.50871	0.1641|0.1641	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.53462	.|0.708;0.96;0.915	.|P;P;P	.|0.54965	.|0.723;0.708;0.765	T|T	0.42292|0.42292	-0.9460|-0.9460	5|10	.|0.23302	.|T	.|0.38	.|.	13.8688|13.8688	0.63605|0.63605	0.0:0.4829:0.4177:0.0994|0.0:0.4829:0.4177:0.0994	.|.	.|6091;7792;2522	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	S|F	378|6091;7792;7792;2140;2522;6091	.|ENSP00000386259:S6091F;ENSP00000380505:S7792F;ENSP00000416578:S7792F;ENSP00000410961:S2522F;ENSP00000172853:S6091F	.|ENSP00000172853:S6091F	P|S	-|-	1|2	0|0	NEB|NEB	152072841|152072841	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	1.737000|1.737000	0.38197|0.38197	0.256000|0.256000	0.21614|0.21614	0.655000|0.655000	0.94253|0.94253	CCA|TCC		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	17	60	0	23	1	7.343561e-01	6	5	0	23	2		0	0	0	0	0	2	1	9.999774e-01	16	58	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152381050	152381050	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152381050C>A	ENST00000172853.10	-	124	17397	c.17250G>T	c.(17248-17250)caG>caT	p.Q5750H	NEB_ENST00000603639.1_Missense_Mutation_p.Q7451H|NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000427231.2_Missense_Mutation_p.Q7451H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000397345.3_Missense_Mutation_p.Q7451H			P20929	NEBU_HUMAN	nebulin			301					GTTTGGCTGCCTGTGTGGCCT	0.512000																								0							SO:0001583	missense			ENST00000172853.10	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.404807|2.404807	0.42613|0.42613	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.47869|.	0.83;1.43;1.43;0.83;0.83|.	5.64|5.64	2.72|2.72	0.32119|0.32119	.|.	0.106358|.	0.64402|.	D|.	0.000003|.	T|T	0.48021|0.48021	0.1477|0.1477	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31383|.	0.006;0.018;0.321|.	B;B;B|.	0.25506|.	0.053;0.043;0.061|.	T|T	0.42882|0.42882	-0.9425|-0.9425	10|5	0.46703|.	T|.	0.11|.	.|.	3.5627|3.5627	0.07888|0.07888	0.1205:0.5605:0.1175:0.2014|0.1205:0.5605:0.1175:0.2014	.|.	5750;7451;2181|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	H|M	5750;7451;7451;1799;2181;5750|74	ENSP00000386259:Q5750H;ENSP00000380505:Q7451H;ENSP00000416578:Q7451H;ENSP00000410961:Q2181H;ENSP00000172853:Q5750H|.	ENSP00000172853:Q5750H|.	Q|R	-|-	3|2	2|0	NEB|NEB	152089296|152089296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.995000|0.995000	0.29706|0.29706	1.376000|1.376000	0.46267|0.46267	0.655000|0.655000	0.94253|0.94253	CAG|AGG		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	33	1037	0	149	1	9.100107e-02	4	12	0	149	2		0	0	0	0	0	2	1	1	30	996	0	148	2								-2.724481	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.390000	0.270000	0.540000	0.390000	0.403618	0.390000	0	3.200000e-01	4.700000e-01
NEB	4703	broad.mit.edu	37	2	152419185	152419185	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152419185C>T	ENST00000172853.10	-	92	13875	c.13728G>A	c.(13726-13728)acG>acA	p.T4576T	NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000427231.2_Silent_p.T6277T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000397345.3_Silent_p.T6277T			P20929	NEBU_HUMAN	nebulin			301					CCAGAAGAGACGTCCACTGGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000172853.10	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	13	72	0	12	0	4.325807e-01	0	9	0	12	2		0	0	0	0	0	2	1	9.996229e-01	13	70	0	12	2								-9.768882	1	1	120848	2	35	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999053	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152466579	152466579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152466579C>T	ENST00000172853.10	-	77	11492	c.11345G>A	c.(11344-11346)aGc>aAc	p.S3782N	NEB_ENST00000603639.1_Missense_Mutation_p.S4025N|NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000427231.2_Missense_Mutation_p.S4025N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000397345.3_Missense_Mutation_p.S4025N			P20929	NEBU_HUMAN	nebulin			301					ATCTTCAATGCTCTGGGCTCC	0.403000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.30	2.791572	0.50102	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10099	3.05;2.98;2.91;3.06	5.36	5.36	0.76844	.	0.136350	0.64402	D	0.000004	T	0.09949	0.0244	L	0.31926	0.97	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.12293	-1.0553	10	0.33940	T	0.23	.	13.2308	0.59943	0.0:0.9171:0.0:0.0829	.	3782	P20929	NEBU_HUMAN	N	3782;4025;4025;3782	ENSP00000386259:S3782N;ENSP00000380505:S4025N;ENSP00000416578:S4025N;ENSP00000172853:S3782N	ENSP00000172853:S3782N	S	-	2	0	NEB	152174825	0.000000	0.05858	0.420000	0.26596	0.994000	0.84299	0.961000	0.29267	2.682000	0.91365	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	49	212	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	49	208	0	37	2								-20.000000	1	1	120838	2	37	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152468847	152468847	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152468847G>A	ENST00000172853.10	-	74	11076	c.10929C>T	c.(10927-10929)ggC>ggT	p.G3643G	NEB_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000427231.2_Silent_p.G3886G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000397345.3_Silent_p.G3886G			P20929	NEBU_HUMAN	nebulin			301					CCTCTACAGAGCCAATGGGAA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000172853.10	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	16	221	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	9.999382e-01	15	220	0	52	2								-19.642830	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.870000	0.520000	1.000000	1.000000	0.851899	0.870000	1	6.800000e-01	1
NEB	4703	broad.mit.edu	37	2	152471039	152471039	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152471039C>A	ENST00000172853.10	-	73	10770	c.10623G>T	c.(10621-10623)aaG>aaT	p.K3541N	NEB_ENST00000603639.1_Missense_Mutation_p.K3784N|NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000427231.2_Missense_Mutation_p.K3784N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000397345.3_Missense_Mutation_p.K3784N			P20929	NEBU_HUMAN	nebulin			301					TCGGGTCATCCTTAATGTTCC	0.458000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.261	1.043255	0.19748	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.41;3.4;3.38;3.41	5.78	-0.992	0.10232	.	0.799704	0.11944	N	0.514403	T	0.02494	0.0076	N	0.14661	0.345	0.80722	D	1	P	0.36412	0.552	B	0.28991	0.097	T	0.55296	-0.8163	10	0.18710	T	0.47	.	3.4418	0.07466	0.1104:0.5012:0.2146:0.1737	.	3541	P20929	NEBU_HUMAN	N	3541;3784;3784;3541	ENSP00000386259:K3541N;ENSP00000380505:K3784N;ENSP00000416578:K3784N;ENSP00000172853:K3541N	ENSP00000172853:K3541N	K	-	3	2	NEB	152179285	0.769000	0.28531	0.506000	0.27664	0.068000	0.16541	0.024000	0.13555	-0.084000	0.12595	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	300	767	0	212	0	0	0	1	0	212	2		0	0	0	0	0	2	1	1	296	756	0	210	2								-13.102860	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152512680	152512680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512680C>T	ENST00000172853.10	-	49	6629	c.6482G>A	c.(6481-6483)cGc>cAc	p.R2161H	NEB_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000427231.2_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000397345.3_Missense_Mutation_p.R2161H			P20929	NEBU_HUMAN	nebulin			301					ACTCTGTATGCGATTCATATT	0.453000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.08	1.830523	0.32329	2.43E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.83	-7.68	0.01268	.	0.892392	0.10007	N	0.727734	T	0.21550	0.0519	L	0.29908	0.895	0.38568	D	0.94988	B	0.02656	0.0	B	0.04013	0.001	T	0.04855	-1.0922	10	0.40728	T	0.16	.	18.2037	0.89847	0.0:0.597:0.0:0.403	.	2161	P20929	NEBU_HUMAN	H	2161	ENSP00000386259:R2161H;ENSP00000380505:R2161H;ENSP00000416578:R2161H;ENSP00000172853:R2161H	ENSP00000172853:R2161H	R	-	2	0	NEB	152220926	0.000000	0.05858	0.578000	0.28575	0.954000	0.61252	-1.351000	0.02622	-1.394000	0.02077	-0.253000	0.11424	CGC		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	251	1381	0	289		0	0	0	0	289	2		0	0	0	0	0	2	1	1	243	1344	1	289	19								-20.000000	1	0	120992	6	45	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152512810	152512810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512810C>T	ENST00000172853.10	-	49	6499	c.6352G>A	c.(6352-6354)Gac>Aac	p.D2118N	NEB_ENST00000603639.1_Missense_Mutation_p.D2118N|NEB_ENST00000409198.1_Missense_Mutation_p.D2118N|NEB_ENST00000427231.2_Missense_Mutation_p.D2118N|NEB_ENST00000604864.1_Missense_Mutation_p.D2118N|NEB_ENST00000397345.3_Missense_Mutation_p.D2118N			P20929	NEBU_HUMAN	nebulin			301					CTGAGCATGTCGGCAGGGGTG	0.473000																								0							SO:0001583	missense			ENST00000172853.10	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	16.60	3.167562	0.57476	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.82	4.04	0.47022	.	0.048902	0.85682	N	0.000000	T	0.48892	0.1525	M	0.80183	2.485	0.80722	D	1	B	0.22003	0.063	B	0.18561	0.022	T	0.49011	-0.8983	10	0.59425	D	0.04	.	9.7389	0.40406	0.0:0.7901:0.0:0.2099	.	2118	P20929	NEBU_HUMAN	N	2118	ENSP00000386259:D2118N;ENSP00000380505:D2118N;ENSP00000416578:D2118N;ENSP00000172853:D2118N	ENSP00000172853:D2118N	D	-	1	0	NEB	152221056	0.996000	0.38824	0.694000	0.30210	0.943000	0.58893	3.361000	0.52306	0.816000	0.34421	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	292	784	0	164	0	0	1	0	0	164	2		0	0	0	0	0	2	1	1	278	748	0	162	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152518831	152518831	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152518831C>T	ENST00000172853.10	-	46	5935	c.5788G>A	c.(5788-5790)Gac>Aac	p.D1930N	NEB_ENST00000603639.1_Missense_Mutation_p.D1930N|NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000427231.2_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000397345.3_Missense_Mutation_p.D1930N			P20929	NEBU_HUMAN	nebulin			301					TTCATGAAGTCAGCATAGTCA	0.418000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.2	4.112924	0.77210	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05925	3.37;3.4;3.4;3.41	5.75	5.75	0.90469	.	0.267158	0.43919	D	0.000508	T	0.03783	0.0107	N	0.01705	-0.755	0.80722	D	1	B	0.21071	0.051	B	0.28305	0.088	T	0.55166	-0.8183	10	0.13108	T	0.6	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	1930	P20929	NEBU_HUMAN	N	1930	ENSP00000386259:D1930N;ENSP00000380505:D1930N;ENSP00000416578:D1930N;ENSP00000172853:D1930N	ENSP00000172853:D1930N	D	-	1	0	NEB	152227077	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.057000	0.41365	2.866000	0.98385	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	15	428	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	9.998554e-01	15	419	0	101	2								-3.459539	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.440000	0.250000	0.680000	0.420000	0.455587	0.440000	0	3.300000e-01	5.600000e-01
NEB	4703	broad.mit.edu	37	2	152520341	152520341	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152520341T>G	ENST00000172853.10	-	45	5631	c.5484A>C	c.(5482-5484)aaA>aaC	p.K1828N	NEB_ENST00000603639.1_Missense_Mutation_p.K1828N|NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000427231.2_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000397345.3_Missense_Mutation_p.K1828N			P20929	NEBU_HUMAN	nebulin			301					TGTGTTTCCCTTTGGCTTGTT	0.448000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	20.4	3.985387	0.74474	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.55	4.39	0.52855	.	0.104362	0.64402	D	0.000003	T	0.74711	0.3752	M	0.74467	2.265	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	T	0.76055	-0.3099	10	0.49607	T	0.09	.	11.1655	0.48541	0.0:0.0721:0.0:0.9279	.	1828	P20929	NEBU_HUMAN	N	1828	ENSP00000386259:K1828N;ENSP00000380505:K1828N;ENSP00000416578:K1828N;ENSP00000172853:K1828N	ENSP00000172853:K1828N	K	-	3	2	NEB	152228587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.756000	0.38390	2.237000	0.73441	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	57	259	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	57	253	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152527556	152527556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152527556T>C	ENST00000172853.10	-	38	4634	c.4487A>G	c.(4486-4488)aAc>aGc	p.N1496S	NEB_ENST00000603639.1_Missense_Mutation_p.N1496S|NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000427231.2_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000397345.3_Missense_Mutation_p.N1496S			P20929	NEBU_HUMAN	nebulin			301					CTGCTTTGTGTTATGCTGAGC	0.468000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	21.4	4.149237	0.78001	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05081	3.52;3.51;3.53;3.5	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.06625	-1.0816	10	0.06099	T	0.92	.	15.7745	0.78204	0.0:0.0:0.0:1.0	.	1496	P20929	NEBU_HUMAN	S	1496	ENSP00000386259:N1496S;ENSP00000380505:N1496S;ENSP00000416578:N1496S;ENSP00000172853:N1496S	ENSP00000172853:N1496S	N	-	2	0	NEB	152235802	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.068000	0.57534	2.174000	0.68829	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	65	182	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	66	180	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152528985	152528985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152528985G>A	ENST00000172853.10	-	37	4344	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_ENST00000603639.1_Silent_p.V1399V|NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000427231.2_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000397345.3_Silent_p.V1399V			P20929	NEBU_HUMAN	nebulin			301					CATTGGTAGCGACATCCTGGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000172853.10	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	94	288	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	92	282	0	63	2								-20.000000	1	1	120996	5	39	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152537333	152537333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152537333G>A	ENST00000172853.10	-	30	3100	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	NEB_ENST00000603639.1_Missense_Mutation_p.R985C|NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000427231.2_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000397345.3_Missense_Mutation_p.R985C			P20929	NEBU_HUMAN	nebulin			301					GGATGTTGGCGATATTTTTTC	0.353000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	27.5	4.840704	0.91197	0.0	1.22E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.13307	2.61;2.69;2.68;2.6	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58312	-0.7658	10	0.87932	D	0	.	18.5478	0.91053	0.0:0.0:1.0:0.0	.	985	P20929	NEBU_HUMAN	C	985	ENSP00000386259:R985C;ENSP00000380505:R985C;ENSP00000416578:R985C;ENSP00000172853:R985C	ENSP00000172853:R985C	R	-	1	0	NEB	152245579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.188000	0.58351	2.684000	0.91462	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	167	549	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1	167	541	0	146	2								-20.000000	1	1	120808	4	41	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152584236	152584236	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152584236T>C	ENST00000172853.10	-	5	410	c.263A>G	c.(262-264)cAc>cGc	p.H88R	NEB_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000427231.2_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000397345.3_Missense_Mutation_p.H88R			P20929	NEBU_HUMAN	nebulin			301					TTTCTGACTGTGTGCAATGTA	0.453000																								0							SO:0001583	missense			ENST00000172853.10	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	22.7	4.329017	0.81690	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.13272	0.32	0.80722	D	1	B	0.33841	0.428	P	0.44921	0.464	T	0.18555	-1.0333	10	0.06365	T	0.9	.	15.3932	0.74767	0.0:0.0:0.0:1.0	.	88	P20929	NEBU_HUMAN	R	88	ENSP00000386259:H88R;ENSP00000380505:H88R;ENSP00000416578:H88R;ENSP00000172853:H88R	ENSP00000172853:H88R	H	-	2	0	NEB	152292482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.010000	0.76353	2.308000	0.77769	0.533000	0.62120	CAC		TCGA-IB-7651-01A-11D-2154-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	39	224	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	38	217	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
STAM2	10254	broad.mit.edu	37	2	152992061	152992061	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152992061T>G	ENST00000263904.4	-	8	1110	c.761A>C	c.(760-762)aAt>aCt	p.N254T		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2			16					TGTTACAAAATTGGATGGGAA	0.303000																								0							SO:0001583	missense			ENST00000263904.4	1	1	hg19	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063769	0.76187	.	.	ENSG00000115145	ENST00000263904	T	0.37411	1.2	5.55	4.36	0.52297	Src homology-3 domain (4);	0.041476	0.85682	D	0.000000	T	0.48390	0.1497	L	0.50919	1.6	0.80722	D	1	D;D	0.60575	0.982;0.988	P;P	0.61070	0.883;0.858	T	0.40997	-0.9533	10	0.48119	T	0.1	-18.2276	11.6591	0.51337	0.0:0.0704:0.0:0.9296	.	254;254	O75886-2;O75886	.;STAM2_HUMAN	T	254	ENSP00000263904:N254T	ENSP00000263904:N254T	N	-	2	0	STAM2	152700307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.762000	0.68809	0.897000	0.36392	0.460000	0.39030	AAT		TCGA-IB-7651-01A-11D-2154-08	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	1	0	1	120	324	0	102	1	1	32	62	0	102	2		0	0	0	0	0	2	1	1	120	320	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBAS	51594	broad.mit.edu	37	2	15307260	15307260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15307260G>A	ENST00000281513.5	-	52	7053	c.7028C>T	c.(7027-7029)gCc>gTc	p.A2343V	NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence			112					GAGAGACCCGGCTTCGGCTTC	0.647000																								0							SO:0001583	missense			ENST00000281513.5	1	1	hg19	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.897598|3.897598	0.72639|0.72639	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283|ENST00000442506	T;T|.	0.35973|.	1.28;1.55|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75354|0.75354	0.3838|0.3838	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.74748|0.74748	-0.3560|-0.3560	10|5	0.87932|.	D|.	0|.	.|.	18.0294|18.0294	0.89278|0.89278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2223;2343|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	2223;2343;156|1391	ENSP00000413201:A2223V;ENSP00000281513:A2343V|.	ENSP00000281513:A2343V|.	A|P	-|-	2|1	0|0	NBAS|NBAS	15224711|15224711	1.000000|1.000000	0.71417|0.71417	0.572000|0.572000	0.28498|0.28498	0.009000|0.009000	0.06853|0.06853	9.190000|9.190000	0.94934|0.94934	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GCC|CCG		TCGA-IB-7651-01A-11D-2154-08	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	1	0	1	82	252	0	58	1	1	63	75	0	58	2		0	0	0	0	0	2	1	1	83	248	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBAS	51594	broad.mit.edu	37	2	15330414	15330414	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15330414A>C	ENST00000281513.5	-	49	6571	c.6546T>G	c.(6544-6546)gcT>gcG	p.A2182A	NBAS_ENST00000441750.1_Silent_p.A2062A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence			112					TAGGTGGCCAAGCTTGCAAAA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000281513.5	1	1	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	6.795	0.515612	0.12944	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.32645	0.0836	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.46247	-0.9205	4	.	.	.	.	2.0951	0.03666	0.1547:0.3135:0.2992:0.2326	.	.	.	.	R	1230	.	.	L	-	2	0	NBAS	15247865	0.004000	0.15560	0.132000	0.22025	0.631000	0.37964	-1.528000	0.02225	-3.487000	0.00154	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	1	0	1	47	273	0	64	1	9.999976e-01	17	98	0	64	2		0	0	0	0	0	2	1	1	44	269	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FMNL2	114793	broad.mit.edu	37	2	153476145	153476145	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153476145G>A	ENST00000288670.9	+	15	2117	c.1750G>A	c.(1750-1752)Gct>Act	p.A584T	FMNL2_ENST00000475377.2_5'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2			23					GACTGTACCAGCTCCTCCCTT	0.642000																								0							SO:0001583	missense			ENST00000288670.9	0	1	hg19	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934621	0.18206	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.17054	2.3	5.37	4.48	0.54585	Actin-binding FH2 (1);	0.314095	0.30177	N	0.010231	T	0.08088	0.0202	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.26573	-1.0099	10	0.23891	T	0.37	.	9.0604	0.36431	0.0979:0.0:0.9021:0.0	.	584;65;584	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	T	584;65	ENSP00000288670:A584T	ENSP00000288670:A584T	A	+	1	0	FMNL2	153184391	0.999000	0.42202	0.999000	0.59377	0.271000	0.26615	2.815000	0.48018	2.516000	0.84829	0.549000	0.68633	GCT		TCGA-IB-7651-01A-11D-2154-08	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	0	0	0	4	99	0	22	1	8.962260e-01	3	102	0	22	2		0	0	0	0	0	2	1	8.822574e-01	4	95	0	21	2								-7.507890	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.540000	0.180000	1.000000	1.000000	0.577053	0.540000	0	3.300000e-01	8.300000e-01
FMNL2	114793	broad.mit.edu	37	2	153484903	153484903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153484903C>T	ENST00000475377.2	+	5	581	c.381C>T	c.(379-381)taC>taT	p.Y127Y	FMNL2_ENST00000288670.9_Silent_p.Y752Y			Q96PY5	FMNL2_HUMAN	formin-like 2			23					TTCGGCTCTACGAGCGGGAAA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000475377.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	1	0	1	79	431	0	88	1	1	56	209	0	88	2		0	0	0	0	0	2	1	1	79	421	0	86	2								-20.000000	1	1	120870	8	42	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	rs140188229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence			112					GAGCTCTTGACGAGTGGCCAA	0.453000																								0							SO:0001583	missense			ENST00000281513.5	1	1	hg19	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.268487|4.268487	0.80469|0.80469	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.33654|.	1.4;1.4|.	5.83|5.83	4.96|4.96	0.65561|0.65561	Secretory pathway Sec39 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.87932|.	D|.	0|.	.|.	14.0714|14.0714	0.64863|0.64863	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	1214;1334|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	1214;1334|382	ENSP00000413201:R1214H;ENSP00000281513:R1334H|.	ENSP00000281513:R1334H|.	R|V	-|-	2|1	0|0	NBAS|NBAS	15411216|15411216	0.998000|0.998000	0.40836|0.40836	0.337000|0.337000	0.25536|0.25536	0.922000|0.922000	0.55478|0.55478	6.351000|6.351000	0.73022|0.73022	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	0	0	1	242	604	0	150	1	1	38	57	0	150	2		0	0	0	0	0	2	1	1	238	589	0	149	2								-20.000000	1	1	121412	7	42	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT13	114805	broad.mit.edu	37	2	154996996	154996996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:154996996C>T	ENST00000392825.3	+	4	856	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	GALNT13_ENST00000409237.1_Silent_p.L97L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13			65					TAATAGAAGTCTGCCAGATGT	0.333000																								0							SO:0001819	synonymous_variant			ENST00000392825.3	1	1	hg19	CCDS2199.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	1	0	1	45	275	0	59	0	5.620260e-02	0	3	0	59	2		0	0	0	0	0	2	1	1	41	270	0	58	2								-3.144189	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
GALNT13	114805	broad.mit.edu	37	2	155102495	155102495	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:155102495G>A	ENST00000392825.3	+	7	1424	c.857G>A	c.(856-858)aGg>aAg	p.R286K	GALNT13_ENST00000409237.1_Splice_Site_p.R286K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13			65					TTACCTGTCAGGTATGTAGAT	0.343000																								0							SO:0001630	splice_region_variant			ENST00000392825.3	1	0	hg19	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788402	0.49997	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.13	4.24	0.50183	Glycosyl transferase, family 2 (1);	0.042624	0.85682	D	0.000000	T	0.54615	0.1869	L	0.58354	1.805	0.80722	D	1	B;B;B;B	0.15719	0.001;0.01;0.014;0.01	B;B;B;B	0.24006	0.006;0.034;0.05;0.034	T	0.51132	-0.8744	10	0.25106	T	0.35	.	15.0273	0.71680	0.0:0.1431:0.8569:0.0	.	286;286;286;286	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	K	286	ENSP00000376570:R286K;ENSP00000387239:R286K	ENSP00000376570:R286K	R	+	2	0	GALNT13	154810741	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.373000	0.73128	1.298000	0.44778	-0.292000	0.09595	AGG		TCGA-IB-7651-01A-11D-2154-08	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	0	0	1	46	172	0	49	0	1.177403e-01	0	3	0	49	2		0	0	0	0	0	2	1	1	42	167	0	47	2								-3.717538	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBAS	51594	broad.mit.edu	37	2	15534373	15534373	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15534373A>G	ENST00000281513.5	-	28	3260	c.3235T>C	c.(3235-3237)Ttg>Ctg	p.L1079L	NBAS_ENST00000441750.1_Silent_p.L959L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence			112					TGCCTCGTCAATCTAACCATC	0.353000																								0							SO:0001819	synonymous_variant			ENST00000281513.5	0	1	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270526	0.23221	.	.	ENSG00000151779	ENST00000429842	.	.	.	5.48	-0.858	0.10689	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53279	-0.8461	4	.	.	.	.	10.5418	0.45037	0.5372:0.0:0.4628:0.0	.	.	.	.	T	176	.	.	I	-	2	0	NBAS	15451824	0.000000	0.05858	0.979000	0.43373	0.996000	0.88848	-0.341000	0.07811	-0.117000	0.11872	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	0	0	0	24	107	0	24	1	9.991529e-01	9	45	0	24	2		0	0	0	0	0	2	1	9.999998e-01	22	105	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NBAS	51594	broad.mit.edu	37	2	15555769	15555769	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15555769C>T	ENST00000281513.5	-	25	2863	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence			112					CCACACCAGGCGACTGTTTCT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000281513.5	1	1	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874693	0.17395	.	.	ENSG00000151779	ENST00000429842	.	.	.	6.16	0.815	0.18763	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.49687	D	0.999817	.	.	.	.	.	.	T	0.22871	-1.0204	4	.	.	.	.	3.1483	0.06479	0.5378:0.1105:0.2501:0.1016	.	.	.	.	T	44	.	.	A	-	1	0	NBAS	15473220	0.667000	0.27484	0.840000	0.33206	0.899000	0.52679	0.235000	0.17948	0.212000	0.20703	-0.271000	0.10264	GCC		TCGA-IB-7651-01A-11D-2154-08	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	1	0	1	136	375	0	97	1	9.999999e-01	21	46	0	97	2		0	0	0	0	0	2	1	1	135	371	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBAS	51594	broad.mit.edu	37	2	15564475	15564475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15564475C>A	ENST00000281513.5	-	23	2566	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H	NBAS_ENST00000441750.1_Missense_Mutation_p.Q847H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	p.Q847H(2)		112					CTGCTCTGGTCTGATACCAGT	0.478000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000281513.5	0	1	hg19	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.481462|2.481462	0.44147|0.44147	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.27256|.	2.29;2.29;1.68|.	5.37|5.37	2.34|2.34	0.29019|0.29019	Secretory pathway Sec39 (1);|.	0.769193|.	0.13456|.	N|.	0.386524|.	T|T	0.31857|0.31857	0.0810|0.0810	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;B|.	0.41569|.	0.755;0.024|.	B;B|.	0.37346|.	0.247;0.057|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.87932|.	D|.	0|.	.|.	7.3536|7.3536	0.26706|0.26706	0.1232:0.6827:0.1198:0.0744|0.1232:0.6827:0.1198:0.0744	.|.	847;847|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	H|I	847;847;14|15	ENSP00000413201:Q847H;ENSP00000281513:Q847H;ENSP00000396501:Q14H|.	ENSP00000281513:Q847H|.	Q|R	-|-	3|2	2|0	NBAS|NBAS	15481926|15481926	0.963000|0.963000	0.33076|0.33076	0.042000|0.042000	0.18584|0.18584	0.982000|0.982000	0.71751|0.71751	1.543000|1.543000	0.36147|0.36147	1.216000|1.216000	0.43427|0.43427	0.655000|0.655000	0.94253|0.94253	CAG|AGA		TCGA-IB-7651-01A-11D-2154-08	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	0	0	0	11	387	0	56	1	5.161220e-01	2	57	0	56	2		0	0	0	0	0	2	1	9.981918e-01	11	379	0	56	2								-3.492181	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.360000	0.190000	0.600000	0.360000	0.379814	0.360000	0	2.600000e-01	4.800000e-01
NBAS	51594	broad.mit.edu	37	2	15601859	15601859	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15601859C>T	ENST00000281513.5	-	20	2179	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	NBAS_ENST00000441750.1_Silent_p.K718K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence			112					TTCTGAATTTCTTAAAGAATT	0.308000																								0							SO:0001819	synonymous_variant			ENST00000281513.5	1	1	hg19	CCDS1685.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	1	0	1	21	103	0	33	1	9.542257e-01	2	26	0	33	2		0	0	0	0	0	2	1	9.999984e-01	21	100	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
NR4A2	4929	broad.mit.edu	37	2	157182425	157182425	+	Missense_Mutation	SNP	T	T	C	rs146388108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157182425T>C	ENST00000339562.4	-	8	1990	c.1628A>G	c.(1627-1629)aAt>aGt	p.N543S	NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000429376.1_Silent_p.Q445Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2			40					CAACCCCCCATTGTTGAAAGT	0.478000																								0							SO:0001583	missense			ENST00000339562.4	1	1	hg19	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	T	0.699	-0.791458	0.02884	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.144766	0.64402	D	0.000006	T	0.19406	0.0466	N	0.00583	-1.355	0.45108	D	0.998122	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	10	0.21014	T	0.42	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	543	P43354	NR4A2_HUMAN	S	543;480;543;554	ENSP00000344479:N543S;ENSP00000389986:N480S;ENSP00000386747:N543S;ENSP00000444925:N554S	ENSP00000344479:N543S	N	-	2	0	NR4A2	156890671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.324000	0.78689	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2	1	0	1	101	279	0	64	1	9.759960e-01	5	14	0	64	2		0	0	0	0	0	2	1	1	97	273	0	62	2								-20.000000	1	1	121412	4	41	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR4A2	4929	broad.mit.edu	37	2	157184947	157184947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157184947C>A	ENST00000339562.4	-	4	1325	c.963G>T	c.(961-963)caG>caT	p.Q321H	NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2			40					CCAGGCACTTCTGAAATCGGC	0.512000																								0							SO:0001583	missense			ENST00000339562.4	1	1	hg19	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.002799|3.002799	0.54254|0.54254	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000406048|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	.|D;D;D;D;D;D	.|0.97430	.|-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	6.07|6.07	4.3|4.3	0.51218|0.51218	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	.|0.053540	.|0.85682	.|D	.|0.000000	.|D	.|0.98102	.|0.9374	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|D	.|0.98019	.|1.0370	.|10	.|0.87932	.|D	.|0	.|.	9.36|9.36	0.38190|0.38190	0.1191:0.7675:0.0:0.1134|0.1191:0.7675:0.0:0.1134	.|.	.|321	.|P43354	.|NR4A2_HUMAN	X|H	103|321;258;321;332;321;258	.|ENSP00000344479:Q321H;ENSP00000389986:Q258H;ENSP00000386747:Q321H;ENSP00000444925:Q332H;ENSP00000386993:Q321H;ENSP00000410952:Q258H	.|ENSP00000344479:Q321H	E|Q	-|-	1|3	0|2	NR4A2|NR4A2	156893193|156893193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.201000|2.201000	0.42734|0.42734	0.909000|0.909000	0.36697|0.36697	0.655000|0.655000	0.94253|0.94253	GAA|CAG		TCGA-IB-7651-01A-11D-2154-08	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2	1	0	1	80	399	0	115	1	7.733919e-01	4	12	0	115	2		0	0	0	0	0	2	1	1	79	394	0	115	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR4A2	4929	broad.mit.edu	37	2	157186485	157186485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157186485C>T	ENST00000339562.4	-	3	576	c.214G>A	c.(214-216)Gac>Aac	p.D72N	NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2			40					GGCTTGACGTCGTAGCCTGTG	0.498000																								0							SO:0001583	missense			ENST00000339562.4	1	1	hg19	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257573|4.257573	0.80246|0.80246	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709|ENST00000406048	D;D;D;D;D;D;D;D|.	0.93076|.	-2.93;-2.96;-2.93;-2.94;-3.16;-3.11;-1.58;-2.39|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.71702|0.71702	0.3371|0.3371	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65140|.	0.932|.	T|T	0.67248|0.67248	-0.5718|-0.5718	9|5	0.46703|.	T|.	0.11|.	.|.	19.4006|19.4006	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	72|.	P43354|.	NR4A2_HUMAN|.	N|Q	72;9;72;83;72;9;72;9|50	ENSP00000344479:D72N;ENSP00000389986:D9N;ENSP00000386747:D72N;ENSP00000444925:D83N;ENSP00000386993:D72N;ENSP00000410952:D9N;ENSP00000406808:D72N;ENSP00000388120:D9N|.	ENSP00000344479:D72N|.	D|R	-|-	1|2	0|0	NR4A2|NR4A2	156894731|156894731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2	0	0	0	14	521	0	92	1	1.957823e-01	2	27	0	92	2		0	0	0	0	0	2	1	9.996892e-01	14	502	0	90	2								-3.033595	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.340000	0.190000	0.540000	0.330000	0.354388	0.340000	0	2.500000e-01	4.400000e-01
GALNT5	11227	broad.mit.edu	37	2	158115418	158115418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115418G>A	ENST00000259056.4	+	1	1309	c.824G>A	c.(823-825)aGt>aAt	p.S275N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5			56					GCCAATACGAGTCTTCCTTTT	0.423000																								0							SO:0001583	missense			ENST00000259056.4	1	1	hg19	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.666637	0.00765	.	.	ENSG00000136542	ENST00000259056	T	0.55413	0.52	5.66	-3.12	0.05282	.	9.801460	0.00166	N	0.000000	T	0.27027	0.0662	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	10	0.10111	T	0.7	.	6.1131	0.20112	0.529:0.2649:0.2061:0.0	.	275	Q7Z7M9	GALT5_HUMAN	N	275	ENSP00000259056:S275N	ENSP00000259056:S275N	S	+	2	0	GALNT5	157823664	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.862000	0.04263	-0.403000	0.07622	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	1	0	1	38	473	0	73	1	9.612339e-01	10	58	0	73	2		0	0	0	0	0	2	1	1	37	464	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.950000	0.680000	1.000000	1.000000	0.920559	0.950000	1	8.100000e-01	1
GALNT5	11227	broad.mit.edu	37	2	158115529	158115529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115529G>A	ENST00000259056.4	+	1	1420	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5			56					GGGGCTCATGGGAAGAAACTC	0.403000																								0							SO:0001583	missense			ENST00000259056.4	1	1	hg19	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554576	0.27739	.	.	ENSG00000136542	ENST00000259056	T	0.56611	0.45	5.66	2.83	0.33086	.	3.644830	0.00687	N	0.000710	T	0.37183	0.0994	N	0.24115	0.695	0.26770	N	0.969815	B	0.25719	0.132	B	0.17098	0.017	T	0.28038	-1.0056	10	0.38643	T	0.18	.	1.5072	0.02489	0.1653:0.1536:0.4248:0.2563	.	312	Q7Z7M9	GALT5_HUMAN	E	312	ENSP00000259056:G312E	ENSP00000259056:G312E	G	+	2	0	GALNT5	157823775	0.996000	0.38824	0.499000	0.27577	0.667000	0.39255	0.943000	0.29030	0.834000	0.34852	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	1	0	1	38	503	0	94	1	9.457419e-01	11	55	0	94	2		0	0	0	0	0	2	1	1	35	492	0	92	2								-2.966611	1	1	116486	1	30	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.890000	0.640000	1.000000	1.000000	0.887400	0.890000	1	7.600000e-01	1
ACVR1C	130399	broad.mit.edu	37	2	158399284	158399284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158399284G>A	ENST00000243349.8	-	6	1394	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC			42					ATGCTTCACAGCCAACCCTAA	0.408000																								0							SO:0001583	missense			ENST00000243349.8	1	1	hg19	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663136	0.96745	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000088	D	0.91023	0.7176	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.92740	0.6207	10	0.87932	D	0	.	19.9422	0.97170	0.0:0.0:1.0:0.0	.	188;265;345	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	V	345;295;188;265	ENSP00000243349:A345V;ENSP00000387168:A295V;ENSP00000335139:A188V;ENSP00000335178:A265V	ENSP00000243349:A345V	A	-	2	0	ACVR1C	158107530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	1	0	1	125	507	0	110	0	1.788706e-01	0	4	0	110	2		0	0	0	0	0	2	1	1	123	499	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UPP2	151531	broad.mit.edu	37	2	158958634	158958634	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158958634T>C	ENST00000005756.4	+	1	253	c.59T>C	c.(58-60)gTt>gCt	p.V20A	UPP2_ENST00000605860.1_Missense_Mutation_p.V77A|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2			31				Fluorouracil(DB00544)	AATACATATGTTGGGTGAGTA	0.353000																								0							SO:0001583	missense			ENST00000005756.4	1	1	hg19	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.917797	0.00503	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.30714	1.52;1.6	5.67	1.66	0.24008	.	0.799265	0.11506	N	0.557199	T	0.16557	0.0398	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.08179	T	0.78	.	5.5721	0.17202	0.1839:0.0:0.2736:0.5425	.	20	O95045	UPP2_HUMAN	A	77;20	ENSP00000387230:V77A;ENSP00000005756:V20A	ENSP00000005756:V20A	V	+	2	0	UPP2	158666880	0.344000	0.24827	0.004000	0.12327	0.089000	0.18198	0.340000	0.19892	0.036000	0.15547	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	1	0	1	107	536	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1	105	525	0	138	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKP4	8502	broad.mit.edu	37	2	159535158	159535158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159535158C>T	ENST00000389759.3	+	21	3434	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W	AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.R1065W	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4			61					ACAAAATAGACGGCTACAGGT	0.403000										HNSCC(62;0.18)														0							SO:0001583	missense			ENST00000389759.3	1	1	hg19	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502554	0.64298	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75821	-0.97;-0.93	5.83	5.83	0.93111	.	0.130249	0.51477	D	0.000096	T	0.61489	0.2351	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46706	0.722;0.617;0.883	B;B;B	0.31101	0.08;0.124;0.117	T	0.69749	-0.5061	10	0.87932	D	0	-14.9775	20.1184	0.97949	0.0:1.0:0.0:0.0	.	1063;1065;1108	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	W	1065;1108	ENSP00000374407:R1065W;ENSP00000374409:R1108W	ENSP00000374407:R1065W	R	+	1	2	PKP4	159243404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.259000	0.65485	2.769000	0.95229	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1	1	0	1	117	351	0	76	1	1	96	147	0	76	2		0	0	0	0	0	2	1	1	109	326	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKP4	8502	broad.mit.edu	37	2	159537009	159537009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159537009G>A	ENST00000389759.3	+	22	3511	c.3399G>A	c.(3397-3399)ttG>ttA	p.L1133L	AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Silent_p.L1090L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4			61					GATTGTATTTGCAGTCTCCTC	0.363000										HNSCC(62;0.18)														0							SO:0001819	synonymous_variant			ENST00000389759.3	1	1	hg19	CCDS33305.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1	1	0	1	147	424	0	88	1	1	143	169	0	88	2		0	0	0	0	0	2	1	1	141	418	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC1	85461	broad.mit.edu	37	2	160019849	160019849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160019849G>A	ENST00000263635.6	+	8	975	c.738G>A	c.(736-738)tgG>tgA	p.W246*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1			77					GTTTGGAATGGAATAAAGATG	0.488000																								0							SO:0001587	stop_gained			ENST00000263635.6	0	1	hg19	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	39	7.336726	0.98221	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.41	0.74911	0.0663:0.0:0.9337:0.0	.	.	.	.	X	140;246	.	ENSP00000263635:W246X	W	+	3	0	TANC1	159728095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.616000	0.98359	1.577000	0.49804	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1	113	315	0	86	1	9.999594e-01	2	42	0	86	2		0	0	0	0	0	2	1	1	112	311	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC1	85461	broad.mit.edu	37	2	160020017	160020017	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160020017C>A	ENST00000263635.6	+	8	1143	c.906C>A	c.(904-906)ggC>ggA	p.G302G	TANC1_ENST00000454300.1_Silent_p.G196G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1			77					ATTCTCAGGGCTCCAGCTCAC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000263635.6	1	1	hg19	CCDS42766.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1	53	228	0	45	1	9.998431e-01	25	34	0	45	2		0	0	0	0	0	2	1	1	51	226	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC1	85461	broad.mit.edu	37	2	160031536	160031536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160031536G>A	ENST00000263635.6	+	12	1813	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1			77					GCACAGCATCGCAGCTTTGCT	0.582000																								0							SO:0001583	missense			ENST00000263635.6	1	1	hg19	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678943	0.88542	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.76968	-1.02;-1.06	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.80616	2.505	0.80722	D	1	P;P;D	0.89917	0.868;0.919;1.0	B;B;D	0.78314	0.132;0.369;0.991	D	0.89947	0.4077	10	0.87932	D	0	.	15.7049	0.77569	0.0:0.0:0.8621:0.1379	.	518;420;526	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	T	420;526	ENSP00000396339:A420T;ENSP00000263635:A526T	ENSP00000263635:A526T	A	+	1	0	TANC1	159739782	1.000000	0.71417	0.329000	0.25429	0.901000	0.52897	7.690000	0.84178	1.325000	0.45301	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1	396	1145	0	297	1	9.999895e-01	6	43	0	297	2		0	0	0	0	0	2	1	1	389	1118	0	292	2								-20.000000	1	1	121042	1	35	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC1	85461	broad.mit.edu	37	2	160043449	160043449	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160043449C>A	ENST00000263635.6	+	16	2893	c.2656C>A	c.(2656-2658)Ctc>Atc	p.L886I	TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1			77					TTCAAGCCATCTCCAAGCCCT	0.537000																								0							SO:0001583	missense			ENST00000263635.6	1	1	hg19	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218434	0.95104	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.75367	-0.89;-0.93	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.985	D;D;P	0.83275	0.991;0.996;0.808	D	0.86007	0.1498	10	0.72032	D	0.01	.	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	878;780;886	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	I	780;886	ENSP00000396339:L780I;ENSP00000263635:L886I	ENSP00000263635:L886I	L	+	1	0	TANC1	159751695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	2.861000	0.98227	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1	71	230	0	51	1	9.999977e-01	8	57	0	51	2		0	0	0	0	0	2	1	1	56	225	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC1	85461	broad.mit.edu	37	2	160074011	160074011	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160074011T>G	ENST00000263635.6	+	20	3485	c.3248T>G	c.(3247-3249)cTg>cGg	p.L1083R	TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1			77					CCTTTAGCCCTGACTGCCGCC	0.562000																								0							SO:0001583	missense			ENST00000263635.6	1	1	hg19	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657482	0.88154	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;D	0.91295	-2.82;-1.58	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99004	1.0812	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	1075;977;1083	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	977;1083	ENSP00000396339:L977R;ENSP00000263635:L1083R	ENSP00000263635:L1083R	L	+	2	0	TANC1	159782257	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.841000	0.86834	2.269000	0.75478	0.533000	0.62120	CTG		TCGA-IB-7651-01A-11D-2154-08	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	0	0	1	191	752	1	186	1	9.990622e-01	6	46	1	186	3		0	0	0	0	0	2	1	1	188	743	1	185	18								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC1	85461	broad.mit.edu	37	2	160084456	160084456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160084456C>T	ENST00000263635.6	+	25	4267	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1			77					CAATTTGTCGCGATGCCGAAG	0.483000																								0							SO:0001587	stop_gained			ENST00000263635.6	0	1	hg19	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	45	11.797480	0.99604	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6244	0.76840	0.3198:0.6802:0.0:0.0	.	.	.	.	X	1238;1344	.	.	R	+	1	2	TANC1	159792702	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	2.467000	0.45093	1.551000	0.49450	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1	113	342	0	94	1	9.999898e-01	3	50	0	94	2		0	0	0	0	0	2	1	1	110	335	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TANC1	85461	broad.mit.edu	37	2	160086401	160086401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160086401C>T	ENST00000263635.6	+	27	4701	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	TANC1_ENST00000454300.1_Silent_p.I1382I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1			77					CCTCATACATCCGAAACCTTC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000263635.6	1	1	hg19	CCDS42766.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1	1	0	1	184	482	0	101	1	1	3	76	0	101	2		0	0	0	0	0	2	1	1	181	473	0	100	2								-9.321355	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDSUB1	151525	broad.mit.edu	37	2	160112844	160112844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160112844C>T	ENST00000409990.3	-	9	1251	c.995G>A	c.(994-996)tGg>tAg	p.W332*	WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1			16					CTCCTCTGACCAATCTTCGGT	0.333000																								0							SO:0001587	stop_gained			ENST00000409990.3	0	1	hg19	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	38	6.809114	0.97853	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9615	0.97252	0.0:1.0:0.0:0.0	.	.	.	.	X	332;240;332;332;332	.	ENSP00000350866:W240X	W	-	2	0	WDSUB1	159821090	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.354000	0.79424	2.713000	0.92767	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	1	0	1	68	229	0	48	1	9.995814e-01	2	40	0	48	2		0	0	0	0	0	2	1	1	68	228	0	47	2								-3.965699	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAZ2B	29994	broad.mit.edu	37	2	160243016	160243016	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160243016A>C	ENST00000392783.2	-	22	3814	c.3319T>G	c.(3319-3321)Ttg>Gtg	p.L1107V	BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B			82					TCAAAGCCCAAAACTTTACCA	0.423000																								0							SO:0001583	missense			ENST00000392783.2	1	1	hg19	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.701099|3.701099	0.68501|0.68501	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.80824	.|-1.42;-1.37;-1.42;-1.39	6.08|6.08	4.95|4.95	0.65309|0.65309	.|DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.|0.000000	.|0.29273	.|U	.|0.012630	D|D	0.86814|0.86814	0.6023|0.6023	M|M	0.76574|0.76574	2.34|2.34	0.47476|0.47476	D|D	0.999432|0.999432	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.996;0.999	D|D	0.87143|0.87143	0.2204|0.2204	5|10	.|0.87932	.|D	.|0	-5.2789|-5.2789	5.7051|5.7051	0.17903|0.17903	0.8223:0.0:0.1777:0.0|0.8223:0.0:0.1777:0.0	.|.	.|1071;1107	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	C|V	167|1071;1107;1073;1007	.|ENSP00000376533:L1071V;ENSP00000376534:L1107V;ENSP00000348087:L1073V;ENSP00000339670:L1007V	.|ENSP00000339670:L1007V	F|L	-|-	2|1	0|2	BAZ2B|BAZ2B	159951262|159951262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.021000|4.021000	0.57196|0.57196	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	TTT|TTG		TCGA-IB-7651-01A-11D-2154-08	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	1	0	1	136	415	0	128	1	9.999577e-01	17	30	0	128	2		0	0	0	0	0	2	1	1	133	403	0	126	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAZ2B	29994	broad.mit.edu	37	2	160287620	160287620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160287620C>A	ENST00000392783.2	-	10	2443	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B			82					TCATCATCATCTTCTTCTTCT	0.323000																								0							SO:0001583	missense			ENST00000392783.2	1	1	hg19	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356178	0.41700	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.08984	3.03;3.03;3.03	5.37	5.37	0.77165	.	0.197372	0.24031	U	0.042184	T	0.12092	0.0294	L	0.29908	0.895	0.80722	D	1	P;P;P	0.50528	0.936;0.936;0.894	P;P;B	0.48141	0.568;0.568;0.365	T	0.01504	-1.1338	10	0.72032	D	0.01	-13.5492	17.2848	0.87138	0.0:1.0:0.0:0.0	.	454;648;650	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	Y	648;650;650	ENSP00000376533:D648Y;ENSP00000376534:D650Y;ENSP00000348087:D650Y	ENSP00000348087:D650Y	D	-	1	0	BAZ2B	159995866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	2.514000	0.84764	0.643000	0.83706	GAT		TCGA-IB-7651-01A-11D-2154-08	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	0	0	1	83	239	1	65	0	9.152302e-01	1	19	1	65	3		0	0	0	0	0	2	1	1	82	237	1	64	17								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAZ2B	29994	broad.mit.edu	37	2	160289445	160289445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160289445C>T	ENST00000392783.2	-	9	2218	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B			82					TGTGTTTTTACTGGGTTTACA	0.428000																								0							SO:0001583	missense			ENST00000392783.2	1	1	hg19	CCDS2209.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.30|10.30|10.30	1.313359|1.313359|1.313359	0.23908|0.23908|0.23908	.|.|.	.|.|.	ENSG00000123636|ENSG00000123636|ENSG00000123636	ENST00000546335|ENST00000441143|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|.|T;T;T;D	.|.|0.85411	.|.|0.85;0.85;0.85;-1.98	5.92|5.92|5.92	3.05|3.05|3.05	0.35203|0.35203|0.35203	.|.|.	.|.|0.605656	.|.|0.12140	.|.|U	.|.|0.495959	.|T|T	.|0.75466|0.75466	.|0.3853|0.3853	N|N|N	0.16478|0.16478|0.16478	0.41|0.41|0.41	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	.|.|P;B;B;B;B	.|.|0.46859	.|.|0.885;0.0;0.0;0.0;0.0	.|.|P;B;B;B;B	.|.|0.47981	.|.|0.563;0.002;0.002;0.003;0.001	.|T|T	.|0.61879|0.61879	.|-0.6972|-0.6972	.|5|10	.|.|0.20046	.|.|T	.|.|0.44	.|-1.6543|-1.6543	5.3963|5.3963|5.3963	0.16271|0.16271|0.16271	0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703|0.1496:0.5351:0.2449:0.0703	.|.|.	.|.|575;379;573;573;575	.|.|Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.|.|.;.;.;.;BAZ2B_HUMAN	.|N|I	-1|6|573;575;575;573	.|.|ENSP00000376533:V573I;ENSP00000376534:V575I;ENSP00000348087:V575I;ENSP00000339670:V573I	.|.|ENSP00000339670:V573I	.|S|V	-|-|-	.|2|1	.|0|0	BAZ2B|BAZ2B|BAZ2B	159997691|159997691|159997691	0.850000|0.850000|0.850000	0.29656|0.29656|0.29656	0.004000|0.004000|0.004000	0.12327|0.12327|0.12327	0.532000|0.532000|0.532000	0.34746|0.34746|0.34746	1.138000|1.138000|1.138000	0.31491|0.31491|0.31491	0.347000|0.347000|0.347000	0.23924|0.23924|0.23924	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|AGT|GTA		TCGA-IB-7651-01A-11D-2154-08	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	1	0	1	183	523	0	153	1	9.999055e-01	20	21	0	153	2		0	0	0	0	0	2	1	1	183	508	0	152	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAZ2B	29994	broad.mit.edu	37	2	160295624	160295624	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160295624C>A	ENST00000392783.2	-	7	1291	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B			82					tctAGATCATCTGAATCACTG	0.373000																								0							SO:0001583	missense			ENST00000392783.2	1	1	hg19	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548459	0.65311	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.51	5.51	0.81932	.	0.000000	0.38164	U	0.001791	T	0.29355	0.0731	M	0.62723	1.935	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.982;0.982;0.96	T	0.00638	-1.1632	10	0.87932	D	0	-16.055	19.4202	0.94719	0.0:1.0:0.0:0.0	.	264;203;266;264;264;266	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Y	264;266;266;264;203	ENSP00000376533:D264Y;ENSP00000376534:D266Y;ENSP00000348087:D266Y;ENSP00000339670:D264Y	ENSP00000339670:D264Y	D	-	1	0	BAZ2B	160003870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.558000	0.86282	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	1	0	1	120	604	0	140	1	9.628881e-01	6	23	0	140	2		0	0	0	0	0	2	1	1	119	589	0	140	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAZ2B	29994	broad.mit.edu	37	2	160304770	160304770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160304770C>T	ENST00000392783.2	-	5	980	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R160Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R162Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B			82					GGGACCATTTCGATTACTTTT	0.353000																								0							SO:0001583	missense			ENST00000392783.2	1	1	hg19	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735337	0.69189	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.68	5.68	0.88126	.	0.000000	0.27289	U	0.020046	T	0.29423	0.0733	L	0.48362	1.52	0.37592	D	0.920207	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.998;0.997	D;D;D;D;D;D	0.83275	0.975;0.996;0.975;0.986;0.986;0.968	T	0.01045	-1.1470	10	0.44086	T	0.13	-6.2343	19.7803	0.96413	0.0:1.0:0.0:0.0	.	160;99;162;160;160;162	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	Q	160;162;162;160;99	ENSP00000376533:R160Q;ENSP00000376534:R162Q;ENSP00000348087:R162Q;ENSP00000339670:R160Q	ENSP00000339670:R160Q	R	-	2	0	BAZ2B	160013016	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.437000	0.52863	2.686000	0.91538	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2	0	0	0	13	347	0	69	1	4.149579e-01	2	35	0	69	2		0	0	0	0	0	2	1	9.994936e-01	13	340	0	69	2								-3.128364	1	1	120798	1	33	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.470000	0.260000	0.750000	0.450000	0.489175	0.470000	0	3.500000e-01	6.100000e-01
PLA2R1	22925	broad.mit.edu	37	2	160825793	160825793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160825793C>T	ENST00000283243.7	-	19	2944	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa		PLA2R1/RBMS1(2)	60					AAAGCCACATCTCTGGCTCTG	0.363000																								0							SO:0001583	missense			ENST00000283243.7	1	1	hg19	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735320	0.48939	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.17370	2.28;2.28	5.8	4.91	0.64330	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.114213	0.64402	D	0.000014	T	0.12347	0.0300	L	0.43757	1.38	0.30810	N	0.738909	B;B;B	0.24618	0.037;0.107;0.051	B;B;B	0.27608	0.038;0.028;0.081	T	0.23084	-1.0198	10	0.05525	T	0.97	.	8.1578	0.31180	0.0:0.7566:0.1605:0.083	.	913;913;913	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	K	913	ENSP00000283243:R913K;ENSP00000376524:R913K	ENSP00000283243:R913K	R	-	2	0	PLA2R1	160534039	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.503000	0.35715	1.415000	0.47037	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1	1	0	0	21	273	0	42	0	5.309578e-01	0	24	0	42	2		0	0	0	0	0	2	1	9.999976e-01	21	269	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.910000	0.590000	1.000000	1.000000	0.887252	0.910000	1	7.400000e-01	1
MYCN	4613	broad.mit.edu	37	2	16085728	16085728	+	Missense_Mutation	SNP	C	C	T	rs144939456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16085728C>T	ENST00000281043.3	+	3	1201	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog			31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)		CATCACTGTGCGTCCCAAGAA	0.582000			A		neuroblastoma										Dom	yes		2	2p24.1	4613	v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)		O	0							SO:0001583	missense			ENST00000281043.3	1	1	hg19	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896675	0.52121	0.0	1.16E-4	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.81908	-1.55	4.94	4.05	0.47172	Transcription regulator Myc, N-terminal (1);	1.323720	0.05292	U	0.521372	D	0.91506	0.7318	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82255	-0.0548	10	0.87932	D	0	-8.6368	14.9038	0.70703	0.1445:0.8555:0.0:0.0	.	302	P04198	MYCN_HUMAN	C	302;220	ENSP00000281043:R302C	ENSP00000281043:R302C	R	+	1	0	MYCN	16003179	1.000000	0.71417	0.862000	0.33874	0.447000	0.32167	2.112000	0.41892	1.203000	0.43233	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	1	0	1	36	181	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1	36	174	0	51	2								-19.610640	1	1	121412	3	37	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB6	3694	broad.mit.edu	37	2	161029111	161029111	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161029111C>A	ENST00000283249.2	-	6	1127	c.890G>T	c.(889-891)aGc>aTc	p.S297I	ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I|ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6			23					TTCATTCTTGCTGTCCAAGTG	0.448000																								0							SO:0001583	missense			ENST00000283249.2	1	1	hg19	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566658	0.45694	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56	5.49	2.16	0.27623	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.596265	0.20136	N	0.098493	D	0.95714	0.8606	L	0.58101	1.795	0.24406	N	0.994683	P;P	0.42337	0.776;0.776	B;B	0.41813	0.367;0.257	D	0.90379	0.4386	10	0.52906	T	0.07	.	8.6805	0.34205	0.0:0.5591:0.0:0.4409	.	255;297	E9PEE8;P18564	.;ITB6_HUMAN	I	297;255;297;297	ENSP00000283249:S297I;ENSP00000408024:S255I;ENSP00000386828:S297I;ENSP00000386367:S297I	ENSP00000283249:S297I	S	-	2	0	ITGB6	160737357	0.967000	0.33354	1.000000	0.80357	0.999000	0.98932	0.172000	0.16704	0.181000	0.19994	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	0	0	0	18	658	0	124	1	9.618384e-01	13	186	0	124	2		0	0	0	0	0	2	1	9.999793e-01	17	649	0	123	2								-3.030632	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.340000	0.200000	0.520000	0.330000	0.355990	0.340000	0	2.700000e-01	4.300000e-01
RBMS1	5937	broad.mit.edu	37	2	161174693	161174693	+	Silent	SNP	C	C	T	rs1430	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161174693C>T	ENST00000348849.3	-	3	727	c.297G>A	c.(295-297)acG>acA	p.T99T	RBMS1_ENST00000409075.1_Silent_p.T66T|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Silent_p.T99T|RBMS1_ENST00000409289.2_Silent_p.T66T|RBMS1_ENST00000409972.1_Silent_p.T66T	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1		PLA2R1/RBMS1(2)						TGCATTTGTTCGTTGTCTTAT	0.284000																								0							SO:0001819	synonymous_variant			ENST00000348849.3	1	0	hg19	CCDS2213.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	0	0	1	57	208	0	34	1	1	31	118	0	34	2		0	0	0	0	0	2	1	1	53	200	0	32	2								-0.436397	0	1	121396	34252	76	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBMS1	5937	broad.mit.edu	37	2	161223761	161223761	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161223761T>C	ENST00000348849.3	-	2	647	c.217A>G	c.(217-219)Acc>Gcc	p.T73A	RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1		PLA2R1/RBMS1(2)						TGGTCGGTGGTGTGGGGAGGC	0.453000																								0							SO:0001583	missense			ENST00000348849.3	1	1	hg19	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	33	5.202186	0.94997	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.38692	1.165	0.80722	D	1	D;P;D;D;D;D	0.64830	0.994;0.938;0.99;0.97;0.973;0.987	D;P;D;D;P;D	0.73380	0.968;0.826;0.98;0.928;0.908;0.932	T	0.03403	-1.1040	10	0.72032	D	0.01	.	15.78	0.78252	0.0:0.0:0.0:1.0	.	40;73;73;40;40;73	D3DPB2;P29558;P29558-2;E7EPF2;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	A	73;40;40;73;40;40	ENSP00000294904:T73A;ENSP00000386347:T40A;ENSP00000386571:T40A;ENSP00000376508:T73A;ENSP00000387280:T40A;ENSP00000389016:T40A	ENSP00000294904:T73A	T	-	1	0	RBMS1	160932007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.255000	0.74692	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	1	0	1	129	375	0	101	1	1	21	88	0	101	2		0	0	0	0	0	2	1	1	124	352	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBR1	10716	broad.mit.edu	37	2	162273024	162273024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273024C>T	ENST00000389554.3	+	1	420	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1			30					GCTTGTCTTGCACGATCATCC	0.468000																								0							SO:0001583	missense			ENST00000389554.3	1	1	hg19	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518173	0.27211	.	.	ENSG00000136535	ENST00000389554	D	0.86497	-2.13	5.15	5.15	0.70609	.	0.346719	0.30446	N	0.009620	T	0.79528	0.4461	L	0.29908	0.895	0.80722	D	1	P	0.35745	0.518	B	0.23150	0.044	T	0.81409	-0.0946	10	0.59425	D	0.04	.	17.7843	0.88533	0.0:1.0:0.0:0.0	.	35	Q16650	TBR1_HUMAN	Y	35	ENSP00000374205:H35Y	ENSP00000374205:H35Y	H	+	1	0	TBR1	161981270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.688000	0.91661	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	1	0	1	65	308	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	62	300	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBR1	10716	broad.mit.edu	37	2	162273383	162273383	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273383C>T	ENST00000389554.3	+	1	779	c.462C>T	c.(460-462)aaC>aaT	p.N154N	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	p.N154N(1)		30					TCATCACCAACGGAGCCTACA	0.672000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000389554.3	1	1	hg19	CCDS33310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	1	0	0	44	967	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	44	944	0	91	2								-3.220113	1	1	121410	2	37	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.550000	0.400000	0.720000	0.550000	0.565218	0.550000	0	4.700000e-01	6.400000e-01
SLC4A10	57282	broad.mit.edu	37	2	162813580	162813580	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162813580G>C	ENST00000446997.1	+	20	2716	c.2623G>C	c.(2623-2625)Gtg>Ctg	p.V875L	SLC4A10_ENST00000375514.5_Missense_Mutation_p.V856L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10			60				Sodium bicarbonate(DB01390)	GCCATGGTTTGTGGCTGCCAC	0.473000																								0							SO:0001583	missense			ENST00000446997.1	0	1	hg19	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168728	0.94768	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.39	5.39	0.77823	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93657	0.6978	10	0.87932	D	0	.	19.1645	0.93548	0.0:0.0:1.0:0.0	.	856;845;875	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	856;845;845;844;875;875;874	ENSP00000364664:V856L;ENSP00000395797:V845L;ENSP00000272716:V845L;ENSP00000393066:V875L;ENSP00000404486:V875L	ENSP00000272716:V845L	V	+	1	0	SLC4A10	162521826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.506000	0.84524	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	1	0	0	8	130	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.894307e-01	8	128	0	11	2								-11.962240	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.760000	0.360000	1.000000	1.000000	0.763865	0.760000	0	5.400000e-01	1
SLC4A10	57282	broad.mit.edu	37	2	162833294	162833294	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833294A>G	ENST00000446997.1	+	25	3345	c.3252A>G	c.(3250-3252)atA>atG	p.I1084M	SLC4A10_ENST00000375514.5_Missense_Mutation_p.I1065M|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10			60				Sodium bicarbonate(DB01390)	TGATCAATATATCTGATGAAA	0.358000																								0							SO:0001583	missense			ENST00000446997.1	1	1	hg19	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669050	0.67814	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	D;D;D;D	0.83163	-1.67;-1.65;-1.66;-1.69	6.03	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.92317	3.295	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.977	D	0.90605	0.4547	10	0.87932	D	0	.	8.317	0.32106	0.1205:0.0646:0.0:0.815	.	1065;1054;1084	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	M	1065;1054;1054;1053;1084;1083	ENSP00000364664:I1065M;ENSP00000395797:I1054M;ENSP00000272716:I1054M;ENSP00000393066:I1084M	ENSP00000272716:I1054M	I	+	3	3	SLC4A10	162541540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.808000	0.38912	0.508000	0.28173	-0.302000	0.09304	ATA		TCGA-IB-7651-01A-11D-2154-08	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	1	0	1	14	42	0	11	0	3.846835e-01	0	5	0	11	2		0	0	0	0	0	2	1	9.998664e-01	13	42	0	11	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
SLC4A10	57282	broad.mit.edu	37	2	162833344	162833344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833344C>T	ENST00000446997.1	+	25	3395	c.3302C>T	c.(3301-3303)gCc>gTc	p.A1101V	SLC4A10_ENST00000375514.5_Missense_Mutation_p.A1082V|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A1071V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10			60				Sodium bicarbonate(DB01390)	CTGATTACTGCCGATAACTCA	0.343000																								0							SO:0001583	missense			ENST00000446997.1	0	1	hg19	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951059	0.53186	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.79554	-1.28;-1.27;-1.27;-1.28	6.03	5.15	0.70609	.	0.288336	0.35291	N	0.003310	T	0.70692	0.3253	N	0.22421	0.69	0.30656	N	0.75494	B;B;B	0.26512	0.053;0.053;0.151	B;B;B	0.28916	0.096;0.096;0.06	T	0.67166	-0.5739	10	0.27785	T	0.31	.	15.1765	0.72916	0.0:0.9327:0.0:0.0673	.	1082;1071;1101	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	V	1082;1071;1071;1070;1101;1100	ENSP00000364664:A1082V;ENSP00000395797:A1071V;ENSP00000272716:A1071V;ENSP00000393066:A1101V	ENSP00000272716:A1071V	A	+	2	0	SLC4A10	162541590	0.997000	0.39634	0.999000	0.59377	0.997000	0.91878	3.943000	0.56621	1.547000	0.49401	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	0	0	0	5	56	0	11	0	2.868590e-02	0	3	0	11	2		0	0	0	0	0	2	1	9.317955e-01	5	53	0	11	2								-9.717433	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.430000	1.000000	1.000000	0.897724	0.990000	1	7.100000e-01	1
SLC4A10	57282	broad.mit.edu	37	2	162834231	162834231	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162834231G>A	ENST00000446997.1	+	26	3437		c.e26-1		SLC4A10_ENST00000375514.5_Splice_Site|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Splice_Site|SLC4A10_ENST00000272716.5_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10			60				Sodium bicarbonate(DB01390)	TTTGTCATAAGCTCCCCTTCC	0.328000																								0							SO:0001630	splice_region_variant			ENST00000446997.1	1	1	hg19	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343284	0.82022	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000446997;ENST00000415711	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.415	0.94690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A10	162542477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.432000	0.66514	2.600000	0.87896	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	1	0	1	66	387	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	65	382	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP4	1803	broad.mit.edu	37	2	162862277	162862277	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162862277T>G	ENST00000360534.3	-	23	2590	c.2030A>C	c.(2029-2031)gAa>gCa	p.E677A	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4			48				Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AAGGTTGTCTTCTGGAGTTGG	0.318000																								0							SO:0001583	missense			ENST00000360534.3	1	1	hg19	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942857	0.34283	.	.	ENSG00000197635	ENST00000360534	T	0.31247	1.5	5.99	5.99	0.97316	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.560335	0.20171	N	0.097723	T	0.20292	0.0488	N	0.16790	0.44	0.35475	D	0.797671	B	0.06786	0.001	B	0.12837	0.008	T	0.21075	-1.0256	10	0.27082	T	0.32	-27.9427	12.3179	0.54969	0.0:0.0674:0.0:0.9326	.	677	P27487	DPP4_HUMAN	A	677	ENSP00000353731:E677A	ENSP00000353731:E677A	E	-	2	0	DPP4	162570523	0.941000	0.31946	1.000000	0.80357	0.884000	0.51177	0.838000	0.27572	2.296000	0.77279	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2	1	0	1	30	131	0	35	1	9.885504e-01	18	16	0	35	2		0	0	0	0	0	2	1	1	30	129	0	32	2								-18.586400	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP4	1803	broad.mit.edu	37	2	162865071	162865071	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162865071C>T	ENST00000360534.3	-	22	2548		c.e22+1		DPP4_ENST00000491591.1_Splice_Site	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4			48				Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAATTACATACCATAGTACTC	0.478000																								0							SO:0001630	splice_region_variant			ENST00000360534.3	1	1	hg19	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018506	0.93404	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP4	162573317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2	1	0	1	76	254	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	76	249	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCG	2641	broad.mit.edu	37	2	163003925	163003925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163003925C>T	ENST00000418842.2	-	3	446	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GCG_ENST00000375497.3_Silent_p.K64K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon			14					AGTCCAGATACTTGCTGTAGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000418842.2	1	1	hg19	CCDS46439.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	1	0	0	290	805	0	199	0	1	1	2554	0	199	2		0	0	0	0	0	2	1	1	286	793	0	198	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAP	2191	broad.mit.edu	37	2	163082066	163082066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163082066G>A	ENST00000188790.4	-	4	419	c.212C>T	c.(211-213)tCt>tTt	p.S71F	FAP_ENST00000443424.1_Missense_Mutation_p.S71F	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha			63					GTTATCTGCAGATTGATGAAG	0.299000																								0							SO:0001583	missense			ENST00000188790.4	1	1	hg19	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074541	0.55646	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T	0.96104	-3.91;1.28	5.68	5.68	0.88126	.	0.496726	0.21739	N	0.069855	D	0.95529	0.8547	M	0.63428	1.95	0.33629	D	0.605844	P;P;P	0.52170	0.732;0.951;0.92	B;P;B	0.49708	0.321;0.62;0.402	D	0.98556	1.0639	10	0.72032	D	0.01	-1.1315	14.4727	0.67526	0.0:0.0:0.8538:0.1462	.	71;71;71	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	F	71;71;50	ENSP00000188790:S71F;ENSP00000411391:S71F	ENSP00000188790:S71F	S	-	2	0	FAP	162790312	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.750000	0.55157	2.675000	0.91044	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2	1	0	1	53	174	0	49	0	1	0	175	0	49	2		0	0	0	0	0	2	1	1	52	170	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFIH1	64135	broad.mit.edu	37	2	163124694	163124694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163124694T>C	ENST00000263642.2	-	14	3105	c.2710A>G	c.(2710-2712)Act>Gct	p.T904A		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1			39					CAAAGGAAAGTTATTAGTGAT	0.363000																								0							SO:0001583	missense			ENST00000263642.2	1	1	hg19	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034499	0.35893	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.43688	0.94	5.31	5.31	0.75309	C-terminal domain of RIG-I (1);	0.350310	0.35291	N	0.003313	T	0.39489	0.1080	M	0.62723	1.935	0.41933	D	0.990576	B	0.27765	0.188	B	0.24006	0.05	T	0.27400	-1.0075	10	0.13470	T	0.59	-0.9591	15.2788	0.73764	0.0:0.0:0.0:1.0	.	904	Q9BYX4	IFIH1_HUMAN	A	904	ENSP00000263642:T904A	ENSP00000263642:T904A	T	-	1	0	IFIH1	162832940	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.717000	0.68446	2.013000	0.59113	0.528000	0.53228	ACT		TCGA-IB-7651-01A-11D-2154-08	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	1	0	1	63	250	0	55	1	1	91	163	0	55	2		0	0	0	0	0	2	1	1	62	244	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFIH1	64135	broad.mit.edu	37	2	163130398	163130398	+	Silent	SNP	G	G	A	rs35677292		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163130398G>A	ENST00000263642.2	-	12	2756	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1			39					CTGTGGTAGCGATAAGCAGAT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000263642.2	1	1	hg19	CCDS2217.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	1	0	1	74	395	0	76	1	1	34	207	0	76	2		0	0	0	0	0	2	1	1	70	382	0	75	2								-20.000000	1	1	121396	15	44	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFIH1	64135	broad.mit.edu	37	2	163134176	163134176	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163134176C>T	ENST00000263642.2	-	10	2188	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1			39					TGCACAAACACGTTCTTTGCG	0.333000																								0							SO:0001583	missense			ENST00000263642.2	1	1	hg19	CCDS2217.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.05	3.537964	0.65085	4.54E-4	0.0	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.06294	3.32	5.66	5.66	0.87406	.	0.048663	0.85682	D	0.000000	T	0.08492	0.0211	M	0.78916	2.43	0.54753	D	0.999983	P	0.39964	0.697	B	0.28991	0.097	T	0.03761	-1.1006	10	0.42905	T	0.14	-13.7346	10.2205	0.43194	0.0:0.8533:0.0:0.1467	.	598	Q9BYX4	IFIH1_HUMAN	H	598	ENSP00000263642:R598H	ENSP00000263642:R598H	R	-	2	0	IFIH1	162842422	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.782000	0.62396	2.665000	0.90641	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	1	0	1	54	260	0	57	1	1	33	186	0	57	2		0	0	0	0	0	2	1	1	54	257	0	57	2								-20.000000	1	1	121374	10	45	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFIH1	64135	broad.mit.edu	37	2	163174679	163174679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163174679G>A	ENST00000263642.2	-	1	534	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	GCA_ENST00000429691.2_5'Flank|IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1			39					ACTGTCCTCTGAATCTGCTCC	0.562000																								0							SO:0001587	stop_gained			ENST00000263642.2	0	1	hg19	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	38	7.112797	0.98070	.	.	ENSG00000115267	ENST00000263642;ENST00000543192;ENST00000421365	.	.	.	5.73	2.7	0.31948	.	1.140500	0.06335	N	0.706983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.5357	9.8127	0.40833	0.0:0.2537:0.4844:0.2619	.	.	.	.	X	47	.	ENSP00000263642:Q47X	Q	-	1	0	IFIH1	162882925	0.023000	0.18921	0.099000	0.21106	0.515000	0.34225	1.142000	0.31540	0.713000	0.32060	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	0	0	0	83	237	0	70	1	1	37	92	0	70	2		0	0	0	0	0	2	1	1	81	234	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH7	90134	broad.mit.edu	37	2	163256740	163256740	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163256740G>T	ENST00000332142.5	-	10	2465	c.2366C>A	c.(2365-2367)tCc>tAc	p.S789Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7			108				Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATTTCAATGGAGCCTCTGGA	0.438000													GBM(196;1492 2208 17507 24132 45496)											0							SO:0001583	missense			ENST00000332142.5	1	1	hg19	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635925	0.87760	.	.	ENSG00000184611	ENST00000332142	D	0.92965	-3.14	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.87617	2.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.96840	0.9617	10	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	789	Q9NS40	KCNH7_HUMAN	Y	789	ENSP00000331727:S789Y	ENSP00000331727:S789Y	S	-	2	0	KCNH7	162964986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.855000	0.99526	2.752000	0.94435	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1	88	486	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	88	479	0	108	2								-3.018740	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH7	90134	broad.mit.edu	37	2	163279902	163279902	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163279902G>A	ENST00000332142.5	-	9	2197	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	p.L700I(1)		108				Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATTCTTCAAGACGTTGCCTC	0.453000													GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000332142.5	1	1	hg19	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206461	0.95033	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96913	-4.17;-4.17	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.98837	1.0753	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	693;700	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	F	700;693	ENSP00000331727:L700F;ENSP00000333781:L693F	ENSP00000333781:L693F	L	-	1	0	KCNH7	162988148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.729000	0.74775	2.824000	0.97209	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1	262	717	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1	256	704	0	175	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH7	90134	broad.mit.edu	37	2	163374395	163374395	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163374395C>T	ENST00000332142.5	-	4	836	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	p.R246Q(1)		108				Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGGGTAGAGTCGGTCCCATTG	0.478000													GBM(196;1492 2208 17507 24132 45496)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000332142.5	1	1	hg19	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096976	0.56075	2.27E-4	0.0	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98617	-5.03;-5.03	5.9	5.9	0.94986	.	0.063150	0.64402	D	0.000004	D	0.95452	0.8523	N	0.19112	0.55	0.39103	D	0.961326	B;B	0.18461	0.01;0.028	B;B	0.12837	0.003;0.008	D	0.92969	0.6396	10	0.23891	T	0.37	.	13.4585	0.61212	0.0:0.9285:0.0:0.0715	.	246;246	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	246	ENSP00000331727:R246Q;ENSP00000333781:R246Q	ENSP00000333781:R246Q	R	-	2	0	KCNH7	163082641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.267000	0.43329	2.791000	0.96007	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1	130	378	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	126	369	0	83	2								-6.019816	1	1	121406	2	41	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH7	90134	broad.mit.edu	37	2	163693155	163693155	+	Missense_Mutation	SNP	C	C	T	rs138091231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163693155C>T	ENST00000332142.5	-	2	298	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7			108				Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGAGAAAGTCGCAGGTGCAT	0.507000													GBM(196;1492 2208 17507 24132 45496)											0							SO:0001583	missense			ENST00000332142.5	1	1	hg19	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479148	0.96307	0.0	1.16E-4	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99563	-6.17;-6.17	5.87	5.87	0.94306	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	L	0.46741	1.465	0.58432	D	0.999997	P;P	0.42483	0.781;0.477	B;P	0.48270	0.307;0.572	D	0.99880	1.1112	10	0.52906	T	0.07	.	19.1942	0.93681	0.0:1.0:0.0:0.0	.	67;67	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	67	ENSP00000331727:D67N;ENSP00000333781:D67N	ENSP00000333781:D67N	D	-	1	0	KCNH7	163401401	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.913000	0.63341	2.785000	0.95823	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	1	72	199	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	70	198	0	55	2								-20.000000	1	1	121412	20	43	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FIGN	55137	broad.mit.edu	37	2	164466940	164466940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164466940G>A	ENST00000333129.3	-	3	1716	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin			47					AGGTCGATGAGGTGCGTGTCA	0.532000																								0							SO:0001583	missense			ENST00000333129.3	1	1	hg19	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832114	0.32421	.	.	ENSG00000182263	ENST00000333129	D	0.93859	-3.3	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.70787	2.145	0.80722	D	1	B	0.25667	0.131	B	0.36808	0.233	D	0.92063	0.5658	10	0.72032	D	0.01	-5.8839	20.2723	0.98479	0.0:0.0:1.0:0.0	.	468	Q5HY92	FIGN_HUMAN	F	468	ENSP00000333836:L468F	ENSP00000333836:L468F	L	-	1	0	FIGN	164175186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.789000	0.69029	2.793000	0.96121	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	1	0	1	62	306	0	63	0	2.713021e-01	0	6	0	63	2		0	0	0	0	0	2	1	1	60	301	0	62	2								-3.106553	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FIGN	55137	broad.mit.edu	37	2	164468186	164468186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164468186G>A	ENST00000333129.3	-	3	470	c.156C>T	c.(154-156)taC>taT	p.Y52Y	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin			47					TCGCCCAGGCGTACTGATAGG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000333129.3	1	1	hg19	CCDS2221.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	1	0	1	132	587	0	102	0	0	0	1	0	102	2		0	0	0	0	0	2	1	1	131	581	0	102	2								-20.000000	1	1	120984	1	39	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXDN	7837	broad.mit.edu	37	2	1647332	1647332	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1647332G>T	ENST00000252804.4	-	19	3810	c.3760C>A	c.(3760-3762)Cct>Act	p.P1254T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			AACACCCCAGGGTTCTCATAC	0.567000																								0							SO:0001583	missense			ENST00000252804.4	1	1	hg19	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093020	0.76756	.	.	ENSG00000130508	ENST00000252804	T	0.75260	-0.92	5.41	5.41	0.78517	.	0.202308	0.43110	D	0.000611	D	0.86855	0.6033	M	0.80616	2.505	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.87931	0.2710	10	0.62326	D	0.03	-19.6271	19.2046	0.93724	0.0:0.0:1.0:0.0	.	1254	Q92626	PXDN_HUMAN	T	1254	ENSP00000252804:P1254T	ENSP00000252804:P1254T	P	-	1	0	PXDN	1626339	1.000000	0.71417	0.991000	0.47740	0.472000	0.32918	7.737000	0.84957	2.525000	0.85131	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	0	0	0	14	369	0	75	0	9.744811e-01	0	163	0	75	2		0	0	0	0	0	2	1	9.997480e-01	14	365	0	73	2								-13.970240	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.470000	0.270000	0.740000	0.460000	0.493083	0.470000	0	3.600000e-01	6.100000e-01
PXDN	7837	broad.mit.edu	37	2	1651965	1651965	+	Missense_Mutation	SNP	T	T	G	rs13398588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1651965T>G	ENST00000252804.4	-	17	3637	c.3587A>C	c.(3586-3588)gAg>gCg	p.E1196A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			CTCCCGGATCTCAGGGTTTTT	0.527000																								0							SO:0001583	missense			ENST00000252804.4	1	1	hg19	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	8.883	0.952195	0.18431	.	.	ENSG00000130508	ENST00000252804	T	0.74632	-0.86	5.48	2.98	0.34508	.	0.670381	0.15817	N	0.243172	T	0.67618	0.2912	L	0.48877	1.53	0.20563	N	0.999887	B	0.19445	0.036	B	0.32928	0.155	T	0.55503	-0.8131	10	0.26408	T	0.33	-25.6379	8.3858	0.32499	0.1346:0.0:0.1331:0.7322	.	1196	Q92626	PXDN_HUMAN	A	1196	ENSP00000252804:E1196A	ENSP00000252804:E1196A	E	-	2	0	PXDN	1630972	0.002000	0.14202	0.851000	0.33527	0.976000	0.68499	0.660000	0.25009	0.332000	0.23536	0.529000	0.55759	GAG		TCGA-IB-7651-01A-11D-2154-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1	153	890	0	161	0	1	0	146	0	161	2		0	0	0	0	0	2	1	1	148	868	0	159	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXDN	7837	broad.mit.edu	37	2	1652088	1652088	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1652088G>A	ENST00000252804.4	-	17	3514	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			GTTGATGGCCGCCAGGTCCAG	0.642000																								0							SO:0001583	missense			ENST00000252804.4	1	1	hg19	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030543	0.93575	.	.	ENSG00000130508	ENST00000252804	T	0.71698	-0.59	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81395	-0.0952	10	0.45353	T	0.12	-31.4364	19.6424	0.95763	0.0:0.0:1.0:0.0	.	1155	Q92626	PXDN_HUMAN	V	1155	ENSP00000252804:A1155V	ENSP00000252804:A1155V	A	-	2	0	PXDN	1631095	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.759000	0.98931	2.645000	0.89757	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	0	46	601	0	90	0	9.963906e-01	0	112	0	90	2		0	0	0	0	0	2	1	1	47	592	0	87	2								-2.920853	1	1	121038	1	35	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.900000	0.670000	1.000000	1.000000	0.897531	0.900000	1	7.800000e-01	1
PXDN	7837	broad.mit.edu	37	2	1653036	1653036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1653036G>A	ENST00000252804.4	-	17	2566	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			GGAGAAGCGTGCCTGGCTCAG	0.652000																								0							SO:0001583	missense			ENST00000252804.4	1	1	hg19	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351801	0.61183	.	.	ENSG00000130508	ENST00000252804	T	0.61392	0.11	5.18	4.28	0.50868	.	0.128490	0.53938	D	0.000048	T	0.51075	0.1653	L	0.41027	1.25	0.53005	D	0.999967	B	0.19445	0.036	B	0.31614	0.133	T	0.42361	-0.9456	10	0.18276	T	0.48	-36.1755	15.2212	0.73313	0.0:0.0:0.8581:0.1419	.	839	Q92626	PXDN_HUMAN	V	839	ENSP00000252804:A839V	ENSP00000252804:A839V	A	-	2	0	PXDN	1632043	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.797000	0.85911	1.276000	0.44395	0.558000	0.71614	GCA		TCGA-IB-7651-01A-11D-2154-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1	43	124	0	23	0	1	0	141	0	23	2		0	0	0	0	0	2	1	1	42	120	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRB14	2888	broad.mit.edu	37	2	165353553	165353553	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165353553A>G	ENST00000263915.3	-	12	1885	c.1347T>C	c.(1345-1347)gcT>gcC	p.A449A	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Silent_p.A362A	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14			32					TCAATCGCTGAGCCTCATCTC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000263915.3	1	1	hg19	CCDS2222.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2	1	0	0	16	296	0	58	0	3.342050e-01	0	22	0	58	2		0	0	0	0	0	2	1	9.999304e-01	16	291	0	58	2								-4.852597	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.660000	0.390000	1.000000	1.000000	0.680900	0.660000	0	5.100000e-01	8.400000e-01
GRB14	2888	broad.mit.edu	37	2	165404219	165404219	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165404219A>G	ENST00000263915.3	-	3	970	c.432T>C	c.(430-432)atT>atC	p.I144I	GRB14_ENST00000543549.1_Silent_p.I57I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14			32					TGTGGTCATCAATGTAATGAT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000263915.3	1	1	hg19	CCDS2222.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2	1	0	1	49	258	0	37	0	2.522772e-01	1	5	0	37	2		0	0	0	0	0	2	1	1	46	255	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COBLL1	22837	broad.mit.edu	37	2	165551408	165551408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165551408C>T	ENST00000392717.2	-	13	2726	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N	COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D832N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1			47					GTGCCAGTGTCTCTTGTCATT	0.448000																								0							SO:0001583	missense			ENST00000392717.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.15	1.850455	0.32699	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	4.28	0.50868	.	0.246856	0.36234	N	0.002708	T	0.50188	0.1601	L	0.60455	1.87	0.09310	N	0.999998	P;P;D	0.69078	0.834;0.834;0.997	B;B;D	0.64410	0.265;0.265;0.925	T	0.41106	-0.9527	9	0.31617	T	0.26	-9.929	4.2721	0.10792	0.2381:0.5568:0.1268:0.0783	.	908;937;870	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	832;870;870;908;937	.	ENSP00000194871:D937N	D	-	1	0	COBLL1	165259654	0.071000	0.21146	0.476000	0.27291	0.111000	0.19643	0.565000	0.23578	1.607000	0.50170	-0.211000	0.12701	GAC		TCGA-IB-7651-01A-11D-2154-08	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	85	479	0	75	1	9.999998e-01	8	117	0	75	2		0	0	0	0	0	2	1	1	85	470	0	74	2								-3.143327	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN3A	6328	broad.mit.edu	37	2	166019220	166019220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166019220G>A	ENST00000360093.3	-	8	1304	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SCN3A_ENST00000283254.7_Silent_p.G271G|SCN3A_ENST00000409101.3_Silent_p.G271G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit			120				Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTCAGATTGCCCATGAACA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000360093.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	121	339	0	79	0	6.984993e-02	0	2	0	79	2		0	0	0	0	0	2	1	1	116	332	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN2A	6326	broad.mit.edu	37	2	166231251	166231251	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231251T>G	ENST00000375437.2	+	22	4319	c.4029T>G	c.(4027-4029)gtT>gtG	p.V1343V	SCN2A_ENST00000357398.3_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V|SCN2A_ENST00000283256.6_Silent_p.V1343V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit			118				Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTTCTGGTTTGTCTGATCT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000375437.2	1	1	hg19	CCDS33314.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	0	0	0	17	600	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	9.999597e-01	17	589	0	79	2								-14.427330	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.350000	0.210000	0.540000	0.360000	0.369229	0.350000	0	2.700000e-01	4.500000e-01
SCN2A	6326	broad.mit.edu	37	2	166231448	166231448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231448G>T	ENST00000375437.2	+	22	4516	c.4226G>T	c.(4225-4227)gGa>gTa	p.G1409V	SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V|SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit			118				Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATAACGTAGGACTTGGATAT	0.348000																								0							SO:0001583	missense			ENST00000375437.2	1	1	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091442	0.55968	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	4.67	4.67	0.58626	Ion transport (1);	0.069003	0.56097	D	0.000037	D	0.98902	0.9628	H	0.95645	3.7	0.80722	D	1	D;P	0.60160	0.987;0.945	D;D	0.68765	0.96;0.933	D	0.99675	1.0997	10	0.87932	D	0	.	17.9467	0.89040	0.0:0.0:1.0:0.0	.	1409;1409	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1409	ENSP00000364586:G1409V;ENSP00000349973:G1409V;ENSP00000283256:G1409V;ENSP00000364576:G1409V	ENSP00000283256:G1409V	G	+	2	0	SCN2A	165939694	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	7.885000	0.87282	2.291000	0.77112	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	1	0	0	48	192	0	49	0	4.132092e-02	0	2	0	49	2		0	0	0	0	0	2	1	1	46	188	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN2A	6326	broad.mit.edu	37	2	166243340	166243340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166243340G>A	ENST00000375437.2	+	26	4926	c.4636G>A	c.(4636-4638)Gtc>Atc	p.V1546I	SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit			118				Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTAACATGGTCACCATGAT	0.373000																								0							SO:0001583	missense			ENST00000375437.2	1	1	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118074	0.56505	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	D	0.93913	0.8052	L	0.28776	0.89	0.80722	D	1	P;B	0.39216	0.664;0.009	B;B	0.35688	0.208;0.02	D	0.93458	0.6808	10	0.33940	T	0.23	.	18.6724	0.91516	0.0:0.0:1.0:0.0	.	1546;1546	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1546	ENSP00000364586:V1546I;ENSP00000349973:V1546I;ENSP00000283256:V1546I;ENSP00000364576:V1546I	ENSP00000283256:V1546I	V	+	1	0	SCN2A	165951586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.418000	0.82041	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	1	0	1	83	219	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	82	218	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSRNP3	80034	broad.mit.edu	37	2	166535367	166535367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166535367C>A	ENST00000342316.4	+	5	1134	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	CSRNP3_ENST00000314499.7_Missense_Mutation_p.L288M|CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3			33					AATCCCCACGCTGAATGGCTG	0.438000																								0							SO:0001583	missense			ENST00000342316.4	1	1	hg19	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274116	0.40194	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.71	5.71	0.89125	.	0.351845	0.29838	N	0.011074	T	0.13286	0.0322	N	0.08118	0	0.38413	D	0.945977	P	0.49447	0.924	P	0.47981	0.563	T	0.18085	-1.0348	10	0.31617	T	0.26	-9.333	14.4442	0.67338	0.0:0.853:0.147:0.0	.	288	Q8WYN3	CSRN3_HUMAN	M	288;295;288;288;320	ENSP00000412081:L288M;ENSP00000318258:L288M;ENSP00000344042:L288M;ENSP00000387195:L320M	ENSP00000318258:L288M	L	+	1	2	CSRNP3	166243613	0.956000	0.32656	0.998000	0.56505	0.943000	0.58893	1.839000	0.39220	2.683000	0.91414	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	1	0	1	113	257	0	60	0	4.843985e-01	1	4	0	60	2		0	0	0	0	0	2	1	1	112	253	0	60	2								-9.413431	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC21B	79809	broad.mit.edu	37	2	166740357	166740357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166740357C>A	ENST00000243344.7	-	26	3768	c.3631G>T	c.(3631-3633)Gca>Tca	p.A1211S	TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B			58					TCATATTTTGCTGATTGAATG	0.368000																								0							SO:0001583	missense			ENST00000243344.7	1	1	hg19	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.668998	0.47677	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.36878	1.23;1.23	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.157596	0.56097	D	0.000038	T	0.19287	0.0463	N	0.03999	-0.3	0.33236	D	0.556598	B	0.16166	0.016	B	0.14023	0.01	T	0.15636	-1.0430	10	0.22109	T	0.4	-9.5148	15.3142	0.74059	0.2025:0.7975:0.0:0.0	.	1211	Q7Z4L5	TT21B_HUMAN	S	149;1211	ENSP00000438692:A149S;ENSP00000243344:A1211S	ENSP00000243344:A1211S	A	-	1	0	TTC21B	166448603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.958000	0.56737	2.774000	0.95407	0.585000	0.79938	GCA		TCGA-IB-7651-01A-11D-2154-08	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	0	0	1	77	303	0	65	1	9.905338e-01	5	26	0	65	2		0	0	0	0	0	2	1	1	76	299	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXDN	7837	broad.mit.edu	37	2	1667419	1667419	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1667419C>A	ENST00000252804.4	-	12	1575	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			TTCTGGGAGCCGATGATGTTG	0.567000																								0							SO:0001583	missense			ENST00000252804.4	1	1	hg19	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012209	0.93346	.	.	ENSG00000130508	ENST00000252804	T	0.50813	0.73	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111519	0.64402	D	0.000009	D	0.83949	0.5365	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90698	0.4618	10	0.87932	D	0	-55.7987	20.0263	0.97523	0.0:1.0:0.0:0.0	.	509;509	Q92626-2;Q92626	.;PXDN_HUMAN	C	509	ENSP00000252804:G509C	ENSP00000252804:G509C	G	-	1	0	PXDN	1646426	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	7.552000	0.82192	2.735000	0.93741	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1	89	512	0	113	0	1	0	147	0	113	2		0	0	0	0	0	2	1	1	89	502	0	112	2								-3.222132	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC21B	79809	broad.mit.edu	37	2	166785764	166785764	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166785764G>T	ENST00000243344.7	-	11	1404	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B			58					TGAGTGTCCAGGACATCATTT	0.303000																								0							SO:0001583	missense			ENST00000243344.7	1	1	hg19	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	g	9.882	1.201929	0.22121	.	.	ENSG00000123607	ENST00000243344	T	0.35421	1.31	5.38	-3.4	0.04853	Tetratricopeptide-like helical (1);	0.139563	0.48767	D	0.000169	T	0.37156	0.0993	L	0.50919	1.6	0.80722	D	1	D;P	0.55605	0.972;0.71	P;B	0.54629	0.757;0.352	T	0.22695	-1.0209	10	0.59425	D	0.04	-2.5633	7.1948	0.25847	0.443:0.1112:0.4458:0.0	.	423;423	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	M	423	ENSP00000243344:L423M	ENSP00000243344:L423M	L	-	1	2	TTC21B	166494010	0.778000	0.28640	0.003000	0.11579	0.311000	0.27955	0.853000	0.27777	-1.009000	0.03400	-0.144000	0.13903	CTG		TCGA-IB-7651-01A-11D-2154-08	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	1	0	1	48	162	0	35	1	9.222187e-01	3	14	0	35	2		0	0	0	0	0	2	1	1	48	160	0	35	2								-3.997685	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC21B	79809	broad.mit.edu	37	2	166805950	166805950	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166805950A>G	ENST00000243344.7	-	3	353	c.216T>C	c.(214-216)tgT>tgC	p.C72C	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B			58					CAAGTAGAGAACAAAGTGATA	0.299000																								0							SO:0001819	synonymous_variant			ENST00000243344.7	1	1	hg19	CCDS33315.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	1	0	0	49	684	0	136	1	3.730566e-01	3	16	0	136	2		0	0	0	0	0	2	1	1	48	676	0	136	2								-9.979269	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.850000	0.640000	1.000000	1.000000	0.855925	0.850000	1	7.400000e-01	9.800000e-01
SCN1A	6323	broad.mit.edu	37	2	166848892	166848892	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848892G>T	ENST00000303395.4	-	26	4892	c.4893C>A	c.(4891-4893)tcC>tcA	p.S1631S	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S1620S|SCN1A_ENST00000409050.1_Silent_p.S1603S|SCN1A_ENST00000423058.2_Silent_p.S1631S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAGGGTAGGGGACACGAAAT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000303395.4	1	1	hg19	CCDS54413.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1	76	444	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1	75	437	0	148	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN1A	6323	broad.mit.edu	37	2	166859067	166859067	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166859067A>G	ENST00000303395.4	-	21	4198	c.4199T>C	c.(4198-4200)aTa>aCa	p.I1400T	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1372T|SCN1A_ENST00000423058.2_Missense_Mutation_p.I1400T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTTCTTTCTATTAGTTTTAG	0.353000																								0							SO:0001583	missense			ENST00000303395.4	1	1	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138074	0.56936	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96136	-3.92;-3.92;-3.87;-3.85	5.54	5.54	0.83059	Ion transport (1);	0.149996	0.48767	D	0.000179	D	0.94666	0.8280	L	0.37800	1.135	0.42774	D	0.99384	D;B;B	0.58620	0.983;0.157;0.078	P;B;B	0.56042	0.79;0.042;0.089	D	0.93124	0.6527	10	0.21014	T	0.42	.	14.5302	0.67920	1.0:0.0:0.0:0.0	.	1389;1372;1400	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	1400;1400;1389;1372	ENSP00000407030:I1400T;ENSP00000303540:I1400T;ENSP00000364554:I1389T;ENSP00000386312:I1372T	ENSP00000303540:I1400T	I	-	2	0	SCN1A	166567313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.324000	0.59228	2.226000	0.72624	0.482000	0.46254	ATA		TCGA-IB-7651-01A-11D-2154-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1	95	270	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	92	264	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN1A	6323	broad.mit.edu	37	2	166900413	166900413	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166900413G>A	ENST00000303395.4	-	11	1808	c.1809C>T	c.(1807-1809)agC>agT	p.S603S	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S603S|SCN1A_ENST00000409050.1_Silent_p.S603S|SCN1A_ENST00000423058.2_Silent_p.S603S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCTCTACGGCTCTCGTTAT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000303395.4	1	1	hg19	CCDS54413.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1	83	370	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	84	366	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN1A	6323	broad.mit.edu	37	2	166908316	166908316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166908316C>A	ENST00000303395.4	-	6	876	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E293*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATATTCTTTTCTATACTATGT	0.358000																								0							SO:0001587	stop_gained			ENST00000303395.4	0	1	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557946	0.65538	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	.	0.454372	0.20978	N	0.082277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.7602	0.78073	0.0:0.7294:0.2706:0.0	.	.	.	.	X	293	.	ENSP00000303540:E293X	E	-	1	0	SCN1A	166616562	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	1.026000	0.30103	2.688000	0.91661	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1	32	197	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	31	195	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
SCN9A	6335	broad.mit.edu	37	2	167085266	167085266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167085266G>A	ENST00000409435.1	-	21	4140	c.4141C>T	c.(4141-4143)Cga>Tga	p.R1381*	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R1382*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R1382*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit			108				Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTCCATCGCACATTTTGA	0.398000																								0							SO:0001587	stop_gained			ENST00000409435.1	0	1	hg19	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	45	12.055428	0.99631	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.23	2.35	0.29111	.	0.000000	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7708	0.69675	0.0:0.0:0.3767:0.6233	.	.	.	.	X	1370;1382;1382;1381	.	ENSP00000304748:R1382X	R	-	1	2	SCN9A	166793512	0.122000	0.22280	0.983000	0.44433	0.988000	0.76386	0.970000	0.29383	0.181000	0.19994	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	1	166	750	0	162	0	4.420267e-01	1	7	0	162	2		0	0	0	0	0	2	1	1	163	743	0	162	2								-20.000000	1	1	120902	3	40	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN9A	6335	broad.mit.edu	37	2	167138288	167138288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167138288G>A	ENST00000409435.1	-	12	2004	c.2005C>T	c.(2005-2007)Cgt>Tgt	p.R669C	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R670C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R670C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit			108				Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAACTACAACGCCTTTTCTTG	0.358000																								0							SO:0001583	missense			ENST00000409435.1	1	1	hg19	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060097	0.19987	0.001339	0.0	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96522	-2.86;-2.86;-2.86;-2.86;-4.04;-2.86	5.71	2.73	0.32206	Domain of unknown function DUF3451 (1);	0.310145	0.27744	N	0.018033	D	0.95037	0.8393	M	0.85710	2.77	0.43417	D	0.995564	B;B;B	0.15719	0.006;0.014;0.001	B;B;B	0.19666	0.016;0.026;0.011	D	0.92168	0.5741	10	0.62326	D	0.03	.	5.7959	0.18387	0.0675:0.1193:0.5719:0.2413	.	658;669;670	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	C	658;670;670;669;523;534	ENSP00000386306:R658C;ENSP00000364536:R670C;ENSP00000304748:R670C;ENSP00000386330:R669C;ENSP00000413212:R523C;ENSP00000393141:R534C	ENSP00000304748:R670C	R	-	1	0	SCN9A	166846534	0.000000	0.05858	0.797000	0.32132	0.058000	0.15608	0.210000	0.17455	0.854000	0.35336	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	0	28	378	0	71	0	2.092972e-01	0	12	0	71	2		0	0	0	0	0	2	1	1	28	372	0	70	2								-7.742641	1	1	120794	15	45	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.880000	0.600000	1.000000	1.000000	0.872086	0.880000	1	7.300000e-01	1
SCN9A	6335	broad.mit.edu	37	2	167145116	167145116	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167145116A>G	ENST00000409435.1	-	9	1144	c.1145T>C	c.(1144-1146)tTt>tCt	p.F382S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S|SCN9A_ENST00000303354.6_Missense_Mutation_p.F383S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F383S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit			108				Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACTACGACAAAGAAGATCAT	0.368000																								0							SO:0001583	missense			ENST00000409435.1	0	1	hg19	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945236	0.92593	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48;-5.48	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.64402	D	0.000005	D	0.99654	0.9872	H	0.99169	4.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97294	0.9926	10	0.87932	D	0	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	382;382;383	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	S	382;383;383;382;247;247	ENSP00000386306:F382S;ENSP00000364536:F383S;ENSP00000304748:F383S;ENSP00000386330:F382S;ENSP00000413212:F247S;ENSP00000393141:F247S	ENSP00000304748:F383S	F	-	2	0	SCN9A	166853362	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.261000	0.95576	2.237000	0.73441	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	0	0	0	7	259	0	65	0	5.659751e-03	0	4	0	65	2		0	0	0	0	0	2	1	9.785096e-01	6	251	0	65	2								-8.687266	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.350000	0.150000	0.650000	0.330000	0.376374	0.350000	0	2.400000e-01	5.000000e-01
SCN9A	6335	broad.mit.edu	37	2	167163471	167163471	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167163471T>C	ENST00000409435.1	-	2	371	c.372A>G	c.(370-372)gtA>gtG	p.V124V	SCN9A_ENST00000409672.1_Silent_p.V124V|SCN9A_ENST00000303354.6_Silent_p.V124V|SCN9A_ENST00000375387.4_Silent_p.V124V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit			108				Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATATGAGTGTACTAAAATCT	0.313000																								0							SO:0001819	synonymous_variant			ENST00000409435.1	1	1	hg19	CCDS46441.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	0	29	66	0	15	0	6.812014e-01	0	7	0	15	2		0	0	0	0	0	2	1	1	28	66	0	15	2								-19.999990	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN7A	6332	broad.mit.edu	37	2	167262289	167262289	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262289G>A	ENST00000409855.1	-	25	4976	c.4850C>T	c.(4849-4851)aCg>aTg	p.T1617M		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit			44				Valproic Acid(DB00313)	CAAAGTAGTCGTAATTGGCTC	0.378000																								0							SO:0001583	missense			ENST00000409855.1	1	1	hg19	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284154	0.59867	0.0	1.22E-4	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97066	-4.23	3.95	3.95	0.45737	.	0.000000	0.56097	D	0.000025	D	0.98118	0.9379	M	0.78049	2.395	0.38018	D	0.934745	D	0.89917	1.0	D	0.85130	0.997	D	0.99880	1.1112	10	0.87932	D	0	.	14.3194	0.66476	0.0:0.0:1.0:0.0	.	1617	Q01118	SCN7A_HUMAN	M	1617	ENSP00000386796:T1617M	ENSP00000259060:T1617M	T	-	2	0	SCN7A	166970535	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.518000	0.60510	2.514000	0.84764	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	1	0	0	33	744	0	159	0	2.172855e-01	0	20	0	159	2		0	0	0	0	0	2	1	1	32	733	0	159	2								-4.399479	1	1	120806	3	40	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.540000	0.370000	0.740000	0.540000	0.554794	0.540000	0	4.500000e-01	6.400000e-01
SCN7A	6332	broad.mit.edu	37	2	167262858	167262858	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262858A>C	ENST00000409855.1	-	25	4407	c.4281T>G	c.(4279-4281)ctT>ctG	p.L1427L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit			44				Valproic Acid(DB00313)	CAACTTGAAAAAGACAGAGCA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000409855.1	1	1	hg19	CCDS46442.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	1	0	1	131	729	0	161	0	7.828151e-01	0	18	0	161	2		0	0	0	0	0	2	1	1	130	719	0	161	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN7A	6332	broad.mit.edu	37	2	167288898	167288898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167288898C>T	ENST00000409855.1	-	15	2648	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit			44				Valproic Acid(DB00313)	ATCAGATTCTCCTGAAGCAAT	0.398000																								0							SO:0001583	missense			ENST00000409855.1	1	1	hg19	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897290	0.33535	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.84146	-1.81;-1.81	5.05	3.13	0.36017	Sodium ion transport-associated (1);	0.249150	0.28624	N	0.014686	T	0.78916	0.4359	L	0.49350	1.555	0.37374	D	0.911766	B	0.24258	0.1	B	0.26202	0.067	T	0.75841	-0.3175	10	0.35671	T	0.21	.	7.6994	0.28613	0.0:0.7388:0.1651:0.0961	.	841	Q01118	SCN7A_HUMAN	E	841	ENSP00000386796:G841E;ENSP00000413699:G841E	ENSP00000259060:G841E	G	-	2	0	SCN7A	166997144	0.071000	0.21146	1.000000	0.80357	0.946000	0.59487	0.996000	0.29719	1.328000	0.45358	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	0	0	0	116	454	0	128	0	3.557595e-01	0	6	0	128	2		0	0	0	0	0	2	1	1	114	449	0	128	2								-3.472479	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN7A	6332	broad.mit.edu	37	2	167328870	167328870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167328870C>T	ENST00000409855.1	-	5	655	c.529G>A	c.(529-531)Ggt>Agt	p.G177S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit			44				Valproic Acid(DB00313)	CATGGATCACCGAGGAAGGAA	0.353000																								0							SO:0001583	missense			ENST00000409855.1	0	1	hg19	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112005	0.77210	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98381	-4.9;-4.9;-4.9	5.37	3.45	0.39498	Ion transport (1);	0.220210	0.32401	N	0.006150	D	0.97025	0.9028	M	0.69823	2.125	0.35514	D	0.800912	D	0.56968	0.978	P	0.47251	0.542	D	0.97354	0.9965	10	0.87932	D	0	.	7.4811	0.27406	0.0:0.5845:0.3221:0.0934	.	177	Q01118	SCN7A_HUMAN	S	177	ENSP00000386796:G177S;ENSP00000413699:G177S;ENSP00000403846:G177S	ENSP00000259060:G177S	G	-	1	0	SCN7A	167037116	0.839000	0.29477	1.000000	0.80357	0.906000	0.53458	1.406000	0.34646	2.675000	0.91044	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1	1	0	1	10	68	0	17	0	3.036705e-01	0	8	0	17	2		0	0	0	0	0	2	1	9.975151e-01	10	68	0	17	2								-7.255237	1	1	120702	2	26	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.992586	0.990000	1	9.900000e-01	1
FAM49A	81553	broad.mit.edu	37	2	16742781	16742781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16742781C>A	ENST00000381323.3	-	7	676	c.456G>T	c.(454-456)caG>caT	p.Q152H	FAM49A_ENST00000355549.2_Missense_Mutation_p.Q152H|FAM49A_ENST00000406434.1_Missense_Mutation_p.Q152H	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A			23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)		TGAAGTCATTCTGAATAGCCG	0.493000																								0							SO:0001583	missense			ENST00000381323.3	1	1	hg19	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599284	0.87055	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.56941	0.43;0.43;0.43	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78178	-0.2305	10	0.87932	D	0	-22.0088	9.8384	0.40985	0.0:0.8495:0.0:0.1505	.	152	Q9H0Q0	FA49A_HUMAN	H	152	ENSP00000370724:Q152H;ENSP00000384771:Q152H;ENSP00000347744:Q152H	ENSP00000347744:Q152H	Q	-	3	2	FAM49A	16606262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.836000	0.39191	2.861000	0.98227	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	0	0	0	9	256	0	40	0	7.907193e-01	0	85	0	40	2		0	0	0	0	0	2	1	9.937162e-01	9	249	0	40	2								-10.130050	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.450000	0.220000	0.770000	0.420000	0.472095	0.450000	0	3.200000e-01	6.100000e-01
PXDN	7837	broad.mit.edu	37	2	1677465	1677465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1677465G>A	ENST00000252804.4	-	9	1018	c.968C>T	c.(967-969)gCc>gTc	p.A323V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			CACCTCTCCGGCCACGTTCTT	0.557000																								0							SO:0001583	missense			ENST00000252804.4	1	1	hg19	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.07|12.07	1.828350|1.828350	0.32329|0.32329	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.66995|.	-0.24|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50069|0.50069	0.1594|0.1594	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.30664|.	0.095;0.289|.	B;B|.	0.40940|.	0.075;0.344|.	T|T	0.43734|0.43734	-0.9373|-0.9373	10|5	0.33141|.	T|.	0.24|.	-21.0506|-21.0506	17.7383|17.7383	0.88400|0.88400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;323|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|S	323|319	ENSP00000252804:A323V|.	ENSP00000252804:A323V|.	A|P	-|-	2|1	0|0	PXDN|PXDN	1656472|1656472	1.000000|1.000000	0.71417|0.71417	0.529000|0.529000	0.27951|0.27951	0.970000|0.970000	0.65996|0.65996	9.691000|9.691000	0.98679|0.98679	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	GCC|CCG		TCGA-IB-7651-01A-11D-2154-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1	204	647	0	179	0	1	0	119	0	179	2		0	0	0	0	0	2	1	1	202	634	0	178	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	167760305	167760305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167760305C>T	ENST00000409728.1	+	2	402	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000409195.1_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	p.R105C(2)		315					GAGCAGTCGGCGCAGGATTGA	0.512000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000409728.1	1	1	hg19	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511643	0.27036	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.82344	-1.58;-1.6;3.79;-1.58;-1.6;3.79	5.12	4.23	0.50019	.	.	.	.	.	T	0.75102	0.3804	.	.	.	0.40273	D	0.978316	P;P	0.46395	0.877;0.877	B;B	0.38562	0.276;0.276	T	0.78661	-0.2117	8	0.87932	D	0	-2.224	8.5532	0.33465	0.0:0.8965:0.0:0.1035	.	105;105	A4UGR9-4;A4UGR9-6	.;.	C	105	ENSP00000386454:R105C;ENSP00000386619:R105C;ENSP00000386840:R105C;ENSP00000386724:R105C;ENSP00000415541:R105C;ENSP00000295237:R105C	ENSP00000295237:R105C	R	+	1	0	XIRP2	167468551	0.964000	0.33143	0.939000	0.37840	0.218000	0.24690	1.551000	0.36233	2.390000	0.81377	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	1	0	1	65	307	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	63	303	0	61	2								-20.000000	1	1	120962	9	40	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168074706	168074706	+	Missense_Mutation	SNP	C	C	A	rs77278822	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168074706C>A	ENST00000409728.1	+	6	942	c.853C>A	c.(853-855)Cct>Act	p.P285T	XIRP2_ENST00000295237.9_Missense_Mutation_p.P252T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P285T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P252T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P30T|XIRP2_ENST00000409195.1_Missense_Mutation_p.P252T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P30T|XIRP2_ENST00000409756.2_Missense_Mutation_p.P252T	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	p.P285S(1)|p.P252S(1)		315					GTGCGCAGTGCCTGGTGGTTT	0.393000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000409728.1	1	0	hg19	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819129	0.71028	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	D;D;T;D;D;T;T;D	0.83506	-1.73;-1.68;3.73;-1.73;-1.68;3.73;3.8;-1.73	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	L	0.55990	1.75	0.49051	D	0.999746	P;D;D;P;P	0.61080	0.839;0.986;0.989;0.876;0.876	P;P;D;P;P	0.63033	0.512;0.88;0.91;0.634;0.634	D	0.87061	0.2153	10	0.41790	T	0.15	-15.5798	14.8258	0.70110	0.0:0.9302:0.0:0.0698	.	77;252;285;77;30	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	T	252;285;252;252;285;252;30;30	ENSP00000386454:P252T;ENSP00000386619:P285T;ENSP00000386840:P252T;ENSP00000386724:P252T;ENSP00000415541:P285T;ENSP00000295237:P252T;ENSP00000387255:P30T;ENSP00000386981:P30T	ENSP00000295237:P252T	P	+	1	0	XIRP2	167782952	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	3.880000	0.56145	1.478000	0.48253	-0.162000	0.13425	CCT		TCGA-IB-7651-01A-11D-2154-08	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	1	0	1	48	296	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	47	292	0	81	2								-4.957389	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PXDN	7837	broad.mit.edu	37	2	1680761	1680761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1680761G>A	ENST00000252804.4	-	8	836	c.786C>T	c.(784-786)acC>acT	p.T262T	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			TGAAGTACACGGTGTTCCCCG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000252804.4	1	1	hg19	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.453|3.453	-0.111536|-0.111536	0.06881|0.06881	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|.	.|.	.|.	4.77|4.77	-9.54|-9.54	0.00572|0.00572	.|.	.|.	.|.	.|.	.|.	T|T	0.30947|0.30947	0.0781|0.0781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39418|0.39418	-0.9615|-0.9615	4|4	.|.	.|.	.|.	-26.0331|-26.0331	0.3493|0.3493	0.00346|0.00346	0.3348:0.2419:0.1617:0.2616|0.3348:0.2419:0.1617:0.2616	.|.	.|.	.|.	.|.	L|C	258|186	.|.	.|.	P|R	-|-	2|1	0|0	PXDN|PXDN	1659768|1659768	0.000000|0.000000	0.05858|0.05858	0.500000|0.500000	0.27589|0.27589	0.539000|0.539000	0.34962|0.34962	-3.664000|-3.664000	0.00399|0.00399	-2.386000|-2.386000	0.00590|0.00590	-1.553000|-1.553000	0.00894|0.00894	CCG|CGT		TCGA-IB-7651-01A-11D-2154-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1	13	79	0	17	0	9.999897e-01	0	145	0	17	2		0	0	0	0	0	2	1	9.996146e-01	13	77	0	17	2								-9.038931	1	1	120918	1	20	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998146	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168100760	168100760	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168100760A>C	ENST00000409195.1	+	9	2947	c.2858A>C	c.(2857-2859)gAa>gCa	p.E953A	XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					CATATCTTTGAATCAAACAAT	0.343000																								0							SO:0001583	missense			ENST00000409195.1	1	1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.373911	0.61624	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.15139	2.49;2.49;2.45	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.43212	-0.9405	10	0.72032	D	0.01	-24.7473	16.3053	0.82846	1.0:0.0:0.0:0.0	.	778;778;731	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	953;953;731	ENSP00000386840:E953A;ENSP00000295237:E953A;ENSP00000387255:E731A	ENSP00000295237:E953A	E	+	2	0	XIRP2	167809006	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1	41	252	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	40	248	0	49	2								-18.905940	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168102034	168102034	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102034G>T	ENST00000409195.1	+	9	4221	c.4132G>T	c.(4132-4134)Gac>Tac	p.D1378Y	XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					CACACAAGAAGACATTCAGAA	0.363000																								0							SO:0001583	missense			ENST00000409195.1	1	1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816694	0.90790	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.06608	3.29;3.29;3.28	5.78	5.78	0.91487	.	0.105878	0.64402	D	0.000006	T	0.30103	0.0754	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.00984	-1.1491	10	0.87932	D	0	-17.2332	19.6068	0.95584	0.0:0.0:1.0:0.0	.	1203;1203;1156	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1378;1378;1156	ENSP00000386840:D1378Y;ENSP00000295237:D1378Y;ENSP00000387255:D1156Y	ENSP00000295237:D1378Y	D	+	1	0	XIRP2	167810280	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.652000	0.83633	2.744000	0.94065	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1	61	325	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	61	319	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168102560	168102560	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102560A>C	ENST00000409195.1	+	9	4747	c.4658A>C	c.(4657-4659)aAa>aCa	p.K1553T	XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					AAGAGCATTAAAGAAACCTTA	0.358000																								0							SO:0001583	missense			ENST00000409195.1	1	1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868527	0.51588	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03094	4.05;4.05;4.05	5.56	5.56	0.83823	.	0.051031	0.85682	D	0.000000	T	0.14743	0.0356	L	0.56769	1.78	0.48040	D	0.999574	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.963;0.983;0.99	T	0.00409	-1.1757	10	0.48119	T	0.1	-27.2337	14.6939	0.69107	1.0:0.0:0.0:0.0	.	1378;1378;1331	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1553;1553;1331	ENSP00000386840:K1553T;ENSP00000295237:K1553T;ENSP00000387255:K1331T	ENSP00000295237:K1553T	K	+	2	0	XIRP2	167810806	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.966000	0.63715	2.122000	0.65172	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1	94	301	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	94	297	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168103174	168103174	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103174C>A	ENST00000409195.1	+	9	5361	c.5272C>A	c.(5272-5274)Ctg>Atg	p.L1758M	XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					TTTGGATTATCTGAAACAACT	0.373000																								0							SO:0001583	missense			ENST00000409195.1	1	1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845636	0.51164	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.11385	2.8;2.8;2.78	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.77103	2.36	0.58432	D	0.999991	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.963;0.983;0.983	T	0.06661	-1.0814	10	0.66056	D	0.02	-7.2269	18.3299	0.90264	0.0:1.0:0.0:0.0	.	1583;1583;1536	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	M	1758;1758;1536	ENSP00000386840:L1758M;ENSP00000295237:L1758M;ENSP00000387255:L1536M	ENSP00000295237:L1758M	L	+	1	2	XIRP2	167811420	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.764000	0.68826	2.633000	0.89246	0.637000	0.83480	CTG		TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1	94	268	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	93	266	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168103993	168103993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103993G>T	ENST00000409195.1	+	9	6180	c.6091G>T	c.(6091-6093)Gat>Tat	p.D2031Y	XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					GATTGTCATAGATCGTGAACA	0.388000																								0							SO:0001583	missense			ENST00000409195.1	1	1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165017	0.38217	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.23147	1.92;1.92;1.92	5.73	4.85	0.62838	.	0.574989	0.19405	N	0.115071	T	0.43678	0.1258	M	0.63428	1.95	0.37711	D	0.924572	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69479	0.921;0.964;0.964	T	0.49818	-0.8899	10	0.72032	D	0.01	-17.3679	7.9073	0.29769	0.2391:0.0:0.7609:0.0	.	1856;1856;1809	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2031;2031;1809	ENSP00000386840:D2031Y;ENSP00000295237:D2031Y;ENSP00000387255:D1809Y	ENSP00000295237:D2031Y	D	+	1	0	XIRP2	167812239	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.304000	0.43655	1.441000	0.47550	-0.145000	0.13849	GAT		TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1	72	250	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	71	246	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168104995	168104995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168104995C>T	ENST00000409195.1	+	9	7182	c.7093C>T	c.(7093-7095)Ccg>Tcg	p.P2365S	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2365S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2143S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					GATGTTTCTGCCGCCTCCTCC	0.473000																								0							SO:0001583	missense			ENST00000409195.1	1	0	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690793	0.29962	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04275	3.67;3.67;3.66	6.02	5.14	0.70334	.	0.385337	0.27554	N	0.018848	T	0.12220	0.0297	M	0.67953	2.075	0.43099	D	0.994784	D;D;D	0.58620	0.972;0.983;0.983	P;P;P	0.56865	0.647;0.808;0.808	T	0.25398	-1.0133	10	0.15952	T	0.53	-2.9885	9.7499	0.40470	0.1427:0.7846:0.0:0.0726	.	2190;2190;2143	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2365;2365;2143	ENSP00000386840:P2365S;ENSP00000295237:P2365S;ENSP00000387255:P2143S	ENSP00000295237:P2365S	P	+	1	0	XIRP2	167813241	0.478000	0.25917	0.052000	0.19188	0.331000	0.28603	3.341000	0.52151	1.543000	0.49345	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	0	0	1	199	509	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	1	190	488	0	150	2								-10.210880	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168107754	168107754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168107754G>A	ENST00000409195.1	+	9	9941	c.9852G>A	c.(9850-9852)gtG>gtA	p.V3284V	XIRP2_ENST00000295237.9_Silent_p.V3284V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					ATCACATGGTGCCCGACACTG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000409195.1	1	1	hg19	CCDS42769.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1	176	470	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	175	462	0	98	2								-8.401916	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168108246	168108246	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108246C>T	ENST00000409195.1	+	9	10433	c.10344C>T	c.(10342-10344)ggC>ggT	p.G3448G	XIRP2_ENST00000295237.9_Silent_p.G3448G|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G3226G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					GCAAATCTGGCTGTGACTTCA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000409195.1	1	1	hg19	CCDS42769.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1	71	236	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	71	229	0	58	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP2	129446	broad.mit.edu	37	2	168108257	168108257	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108257A>C	ENST00000409195.1	+	9	10444	c.10355A>C	c.(10354-10356)aAg>aCg	p.K3452T	XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					TGTGACTTCAAGCATGCCCCA	0.403000																								0							SO:0001583	missense			ENST00000409195.1	1	1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114071	0.77210	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03496	3.92;3.92;3.91	6.16	6.16	0.99307	.	0.184931	0.49916	D	0.000125	T	0.18087	0.0434	M	0.71581	2.175	0.49213	D	0.999768	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.964	T	0.00035	-1.2259	10	0.72032	D	0.01	-20.7223	15.7887	0.78332	1.0:0.0:0.0:0.0	.	3277;3277;3230	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3452;3452;3230;866	ENSP00000386840:K3452T;ENSP00000295237:K3452T;ENSP00000387255:K3230T	ENSP00000295237:K3452T	K	+	2	0	XIRP2	167816503	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.501000	0.45389	2.367000	0.80283	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	1	0	1	65	251	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	65	244	0	55	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXDN	7837	broad.mit.edu	37	2	1687462	1687462	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1687462C>A	ENST00000252804.4	-	6	576	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			TTAAATGTCCCTGGAACTAAA	0.308000																								0							SO:0001583	missense			ENST00000252804.4	1	1	hg19	CCDS46221.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.82|18.82|18.82	3.706140|3.706140|3.706140	0.68615|0.68615|0.68615	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.55413|.|.	0.52;0.92|.|.	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	.|.|.	0.057139|.|.	0.64402|.|.	D|.|.	0.000001|.|.	D|D|D	0.83792|0.83792|0.83792	0.5331|0.5331|0.5331	M|M|M	0.87269|0.87269|0.87269	2.87|2.87|2.87	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.97110|.|.	0.999;1.0|.|.	D|D|D	0.85695|0.85695|0.85695	0.1309|0.1309|0.1309	10|5|5	0.87932|.|.	D|.|.	0|.|.	-32.4813|-32.4813|-32.4813	19.2505|19.2505|19.2505	0.93923|0.93923|0.93923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	176;176|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	W|H|M	176;152|171|99	ENSP00000252804:G176W;ENSP00000398363:G152W|.|.	ENSP00000252804:G176W|.|.	G|Q|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1666469|1666469|1666469	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.428000|0.428000|0.428000	0.26697|0.26697|0.26697	0.491000|0.491000|0.491000	0.33493|0.33493|0.33493	7.505000|7.505000|7.505000	0.81655|0.81655|0.81655	2.542000|2.542000|2.542000	0.85734|0.85734|0.85734	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGG|CAG|AGG		TCGA-IB-7651-01A-11D-2154-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1	11	51	0	22	0	9.997846e-01	0	80	0	22	2		0	0	0	0	0	2	1	9.986111e-01	10	50	0	22	2								-3.083832	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999441	0.990000	1	9.900000e-01	1
SPC25	57405	broad.mit.edu	37	2	169730185	169730185	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169730185A>C	ENST00000282074.2	-	6	601	c.460T>G	c.(460-462)Ttg>Gtg	p.L154V		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component			9					ATAAACTGCAATTTCTCACCT	0.353000																								0							SO:0001583	missense			ENST00000282074.2	1	1	hg19	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699704	0.68501	.	.	ENSG00000152253	ENST00000282074	.	.	.	5.85	0.289	0.15723	.	0.000000	0.64402	D	0.000001	T	0.67107	0.2858	M	0.62154	1.92	0.51767	D	0.99993	D	0.76494	0.999	D	0.77004	0.989	T	0.63980	-0.6514	9	0.49607	T	0.09	-11.3603	8.7529	0.34629	0.5829:0.0:0.4171:0.0	.	154	Q9HBM1	SPC25_HUMAN	V	154	.	ENSP00000282074:L154V	L	-	1	2	SPC25	169438431	0.869000	0.29996	0.997000	0.53966	0.981000	0.71138	0.940000	0.28992	0.124000	0.18369	0.402000	0.26972	TTG		TCGA-IB-7651-01A-11D-2154-08	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	1	0	1	102	313	0	90	1	9.437229e-01	7	10	0	90	2		0	0	0	0	0	2	1	1	101	310	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
G6PC2	57818	broad.mit.edu	37	2	169757900	169757900	+	Missense_Mutation	SNP	G	G	A	rs143670077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169757900G>A	ENST00000375363.3	+	1	151	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q|G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2			13					AAGGACTACCGAGCTTACTAC	0.358000																								0							SO:0001583	missense			ENST00000375363.3	1	1	hg19	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	G	0.343	-0.949068	0.02304	2.27E-4	0.0	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.82344	-0.88;-0.88;-1.6	5.62	2.87	0.33458	.	.	.	.	.	T	0.64864	0.2637	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.46442	-0.9191	9	0.09338	T	0.73	-6.0633	7.1564	0.25639	0.1678:0.0:0.7092:0.123	.	20;20	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	Q	20	ENSP00000364512:R20Q;ENSP00000396939:R20Q;ENSP00000392183:R20Q	ENSP00000282075:R20Q	R	+	2	0	G6PC2	169466146	0.992000	0.36948	0.861000	0.33841	0.704000	0.40688	1.761000	0.38440	0.323000	0.23307	-0.782000	0.03352	CGA		TCGA-IB-7651-01A-11D-2154-08	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	1	0	1	129	446	0	90	0	9.809121e-01	0	24	0	90	2		0	0	0	0	0	2	1	1	126	440	0	89	2								-4.123209	1	1	121412	1	37	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCB11	8647	broad.mit.edu	37	2	169792891	169792891	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169792891A>G	ENST00000263817.6	-	22	2787	c.2663T>C	c.(2662-2664)gTg>gCg	p.V888A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11			57				Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GATCATGGCCACAGTGACGTT	0.502000																								0							SO:0001583	missense			ENST00000263817.6	1	1	hg19	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217062	0.39201	.	.	ENSG00000073734	ENST00000263817	D	0.88975	-2.45	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	N	0.04297	-0.235	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.20955	0.032;0.032	T	0.72171	-0.4371	10	0.12430	T	0.62	.	15.6231	0.76824	1.0:0.0:0.0:0.0	.	330;888	B4DZQ8;O95342	.;ABCBB_HUMAN	A	888	ENSP00000263817:V888A	ENSP00000263817:V888A	V	-	2	0	ABCB11	169501137	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.734000	0.47368	2.096000	0.63516	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	1	0	1	97	301	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	97	294	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCB11	8647	broad.mit.edu	37	2	169869852	169869852	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169869852A>G	ENST00000263817.6	-	5	443	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11			57				Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTATTCACACATGCTTTTCCT	0.393000																								0							SO:0001583	missense			ENST00000263817.6	1	1	hg19	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398189	0.62177	.	.	ENSG00000073734	ENST00000263817	D	0.86366	-2.11	5.41	5.41	0.78517	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.089899	0.85682	D	0.000000	D	0.89581	0.6756	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.88189	0.2876	10	0.30078	T	0.28	-13.8408	15.4475	0.75243	1.0:0.0:0.0:0.0	.	107	O95342	ABCBB_HUMAN	R	107	ENSP00000263817:C107R	ENSP00000263817:C107R	C	-	1	0	ABCB11	169578098	1.000000	0.71417	0.988000	0.46212	0.790000	0.44656	8.305000	0.89960	2.043000	0.60533	0.454000	0.30748	TGT		TCGA-IB-7651-01A-11D-2154-08	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	1	0	1	270	865	0	215	0	0	1	0	0	215	2		0	0	0	0	0	2	1	1	264	845	0	214	2								-20.000000	1	1	120834	1	32	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP2	4036	broad.mit.edu	37	2	170027155	170027155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170027155G>A	ENST00000263816.3	-	59	11571	c.11286C>T	c.(11284-11286)agC>agT	p.S3762S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2			315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATCGAAACTCGCTCTCTGTGC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000263816.3	1	1	hg19	CCDS2232.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	1	141	370	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	139	365	0	89	2								-8.107975	1	1	121412	1	30	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP2	4036	broad.mit.edu	37	2	170038097	170038097	+	Missense_Mutation	SNP	C	C	T	rs137983840	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170038097C>T	ENST00000263816.3	-	52	10315	c.10030G>A	c.(10030-10032)Gca>Aca	p.A3344T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2			315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCAATGTATGCGCGGTGACCC	0.483000																								0							SO:0001583	missense			ENST00000263816.3	1	1	hg19	CCDS2232.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.25	3.341348	0.60963	0.00522	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.97811	-4.55	5.66	4.76	0.60689	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.170562	0.52532	D	0.000080	D	0.98327	0.9445	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	D	0.96079	0.9052	10	0.59425	D	0.04	.	16.2936	0.82761	0.0:0.7787:0.2213:0.0	.	3344	P98164	LRP2_HUMAN	T	3344;39	ENSP00000263816:A3344T	ENSP00000263816:A3344T	A	-	1	0	LRP2	169746343	0.991000	0.36638	0.788000	0.31933	0.219000	0.24729	2.604000	0.46274	2.661000	0.90470	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	1	73	211	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	72	210	0	66	2								-2.923119	1	1	121412	65	50	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP2	4036	broad.mit.edu	37	2	170058137	170058137	+	Splice_Site	SNP	C	C	T	rs80338748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170058137C>T	ENST00000263816.3	-	44	8738		c.e44+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2			315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GATAAACTTACGGCAATTTTT	0.338000																								0		GRCh37	CS073498	LRP2	S	rs80338748	SO:0001630	splice_region_variant			ENST00000263816.3	1	1	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242369	0.95272	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169766383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.701000	0.84566	2.794000	0.96219	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	0	25	304	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	9.999998e-01	24	300	0	64	2								-8.220048	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.970000	0.650000	1.000000	1.000000	0.921804	0.970000	1	8.000000e-01	1
FASTKD1	79675	broad.mit.edu	37	2	170428255	170428255	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170428255A>G	ENST00000453153.2	-	2	631	c.285T>C	c.(283-285)caT>caC	p.H95H	FASTKD1_ENST00000453929.2_Silent_p.H95H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1			37					GAAATTGAGGATGGTCTCTGA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000453153.2	0	1	hg19	CCDS33318.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	0	0	0	6	269	0	29	0	1.446911e-01	1	25	0	29	2		0	0	0	0	0	2	1	9.646469e-01	6	267	0	29	2								-7.454208	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.290000	0.120000	0.570000	0.270000	0.318764	0.290000	0	1.900000e-01	4.300000e-01
PPIG	9360	broad.mit.edu	37	2	170493717	170493717	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493717A>G	ENST00000260970.3	+	14	2169	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	PPIG_ENST00000409714.3_Missense_Mutation_p.K635R|PPIG_ENST00000448752.2_Missense_Mutation_p.K650R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)			43				L-Proline(DB00172)	CAAGAGAGTAAGAGCTCACAC	0.388000																								0							SO:0001583	missense			ENST00000260970.3	1	1	hg19	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	6.780	0.512835	0.12944	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.16196	2.36;2.36;2.36	5.51	1.83	0.25207	.	0.288558	0.31963	N	0.006783	T	0.09069	0.0224	N	0.14661	0.345	0.30690	N	0.751441	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14144	-1.0483	10	0.34782	T	0.22	-6.7652	8.7238	0.34456	0.6299:0.0:0.3701:0.0	.	635;635;650	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	R	650;635;650	ENSP00000260970:K650R;ENSP00000386245:K635R;ENSP00000407083:K650R	ENSP00000260970:K650R	K	+	2	0	PPIG	170201963	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	1.112000	0.31172	0.070000	0.16634	0.482000	0.46254	AAG		TCGA-IB-7651-01A-11D-2154-08	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2	1	0	1	37	166	0	63	1	1	66	240	0	63	2		0	0	0	0	0	2	1	1	37	165	0	63	2								-19.989950	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPIG	9360	broad.mit.edu	37	2	170493763	170493763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493763C>T	ENST00000260970.3	+	14	2215	c.1995C>T	c.(1993-1995)taC>taT	p.Y665Y	PPIG_ENST00000409714.3_Silent_p.Y650Y|PPIG_ENST00000448752.2_Silent_p.Y665Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)			43				L-Proline(DB00172)	AAAGAATGTACTCTAAAAGTC	0.358000																								0							SO:0001819	synonymous_variant			ENST00000260970.3	1	1	hg19	CCDS2235.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2	1	0	0	77	193	0	76	1	1	85	165	0	76	2		0	0	0	0	0	2	1	1	77	189	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPIG	9360	broad.mit.edu	37	2	170493870	170493870	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493870T>C	ENST00000260970.3	+	14	2322	c.2102T>C	c.(2101-2103)tTa>tCa	p.L701S	PPIG_ENST00000409714.3_Missense_Mutation_p.L686S|PPIG_ENST00000448752.2_Missense_Mutation_p.L701S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)			43				L-Proline(DB00172)	GACAATGAATTAAAGTCCTCC	0.353000																								0							SO:0001583	missense			ENST00000260970.3	1	1	hg19	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	T	7.578	0.668229	0.14776	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.15718	2.4;2.4;2.4	5.63	4.49	0.54785	.	0.469985	0.18759	N	0.131954	T	0.09598	0.0236	N	0.04508	-0.205	0.22610	N	0.998939	B;D;B	0.54964	0.0;0.969;0.0	B;P;B	0.50352	0.0;0.638;0.0	T	0.15178	-1.0446	10	0.23302	T	0.38	-0.3466	4.3681	0.11233	0.161:0.1378:0.0:0.7013	.	686;686;701	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	S	701;686;701	ENSP00000260970:L701S;ENSP00000386245:L686S;ENSP00000407083:L701S	ENSP00000260970:L701S	L	+	2	0	PPIG	170202116	0.997000	0.39634	0.999000	0.59377	0.788000	0.44548	1.770000	0.38532	2.152000	0.67230	0.482000	0.46254	TTA		TCGA-IB-7651-01A-11D-2154-08	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2	1	0	1	35	182	0	49	1	1	44	161	0	49	2		0	0	0	0	0	2	1	1	35	177	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KLHL23	151230	broad.mit.edu	37	2	170606212	170606212	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170606212T>A	ENST00000392647.2	+	4	1891	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	KLHL23_ENST00000602521.1_Silent_p.S56S|KLHL23_ENST00000272797.4_Silent_p.S549S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23			16					CCATGCGGTCTCATGGGTGTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000392647.2	1	1	hg19	CCDS2236.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	1	0	0	56	824	0	129	1	3.255710e-01	4	14	0	129	2		0	0	0	0	0	2	1	1	55	797	0	129	2								-10.023350	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.810000	0.620000	1.000000	1.000000	0.819189	0.810000	0	7.100000e-01	9.200000e-01
UBR3	130507	broad.mit.edu	37	2	170815035	170815035	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170815035T>G	ENST00000272793.5	+	24	3683	c.3633T>G	c.(3631-3633)gtT>gtG	p.V1211V	UBR3_ENST00000418381.1_Splice_Site_p.V1211V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)			33					CAATGGATGTTGGTAAGTCAA	0.353000																								0							SO:0001630	splice_region_variant			ENST00000272793.5	1	0	hg19		.	.	.	.	.	.	.	.	.	.	T	15.05	2.717807	0.48622	.	.	ENSG00000144357	ENST00000392632	.	.	.	6.04	4.86	0.63082	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62784	-0.6781	4	.	.	.	.	12.414	0.55483	0.0:0.066:0.0:0.9339	.	.	.	.	W	269	.	.	L	+	2	0	UBR3	170523281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.746000	0.47467	1.066000	0.40716	0.523000	0.50628	TTG		TCGA-IB-7651-01A-11D-2154-08	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	1	0	0	65	363	0	61	1	9.671536e-01	5	28	0	61	2		0	0	0	0	0	2	1	1	63	358	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBR3	130507	broad.mit.edu	37	2	170917646	170917646	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170917646C>T	ENST00000272793.5	+	34	4893	c.4843C>T	c.(4843-4845)Cta>Tta	p.L1615L	UBR3_ENST00000418381.1_Silent_p.L1615L|UBR3_ENST00000392631.1_Silent_p.L436L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)			33					GATAAGTGAACTATTTAAAGG	0.313000																								0							SO:0001819	synonymous_variant			ENST00000272793.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	1	0	1	49	355	0	73	1	9.993446e-01	15	66	0	73	2		0	0	0	0	0	2	1	1	48	350	0	73	2								-19.332970	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999946	0.990000	1	9.900000e-01	1
MYO3B	140469	broad.mit.edu	37	2	171070913	171070913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171070913G>A	ENST00000408978.4	+	4	489	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MYO3B_ENST00000334231.6_Missense_Mutation_p.E125K|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB			59					CTCAGTCACTGAGCTTGTCAA	0.453000																								0							SO:0001583	missense			ENST00000408978.4	1	1	hg19	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713704	0.89112	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155107	0.56097	D	0.000028	T	0.60196	0.2250	L	0.33093	0.98	0.58432	D	0.999998	P;P;P;P	0.39131	0.609;0.661;0.604;0.661	B;B;B;B	0.42593	0.287;0.217;0.108;0.392	T	0.64153	-0.6474	10	0.72032	D	0.01	.	19.4119	0.94677	0.0:0.0:1.0:0.0	.	116;116;116;116	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	K	116;116;115;125;125	ENSP00000386497:E116K;ENSP00000386213:E116K;ENSP00000446237:E125K;ENSP00000335100:E125K	ENSP00000314213:E115K	E	+	1	0	MYO3B	170779159	1.000000	0.71417	0.931000	0.37212	0.980000	0.70556	9.378000	0.97191	2.596000	0.87737	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	1	0	1	61	306	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	60	299	0	71	2								-3.100315	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO3B	140469	broad.mit.edu	37	2	171225744	171225744	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171225744G>T	ENST00000408978.4	+	9	971	c.828G>T	c.(826-828)aaG>aaT	p.K276N	MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000334231.6_Missense_Mutation_p.K285N|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB			59					GTCTTATTAAGGATTTTGAAA	0.413000																								0							SO:0001583	missense			ENST00000408978.4	1	1	hg19	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.99|18.99	3.740166|3.740166	0.69304|0.69304	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.15718	.|2.4;2.4;2.4;2.4	6.06|6.06	2.85|2.85	0.33270|0.33270	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.45856	.|0.1363	M|M	0.89840|0.89840	3.065|3.065	0.44862|0.44862	D|D	0.997871|0.997871	.|D;D;D;D	.|0.89917	.|0.991;0.997;1.0;0.997	.|P;D;D;D	.|0.97110	.|0.86;0.942;1.0;0.914	.|T	.|0.46693	.|-0.9173	.|10	.|0.87932	.|D	.|0	.|.	10.1377|10.1377	0.42717|0.42717	0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0	.|.	.|276;276;276;276	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	X|N	276|276;276;275;285;285	.|ENSP00000386497:K276N;ENSP00000386213:K276N;ENSP00000446237:K285N;ENSP00000335100:K285N	.|ENSP00000314213:K275N	G|K	+|+	1|3	0|2	MYO3B|MYO3B	170933990|170933990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.400000|2.400000	0.44504|0.44504	0.272000|0.272000	0.22027|0.22027	-0.145000|-0.145000	0.13849|0.13849	GGA|AAG		TCGA-IB-7651-01A-11D-2154-08	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	1	0	1	92	267	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	90	261	0	55	2								-5.142567	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO3B	140469	broad.mit.edu	37	2	171243770	171243770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171243770G>T	ENST00000408978.4	+	14	1672	c.1529G>T	c.(1528-1530)aGa>aTa	p.R510I	MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000334231.6_Missense_Mutation_p.R519I|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB			59					ATGGGGGCAAGAATCTCTGAA	0.438000																								0							SO:0001583	missense			ENST00000408978.4	1	1	hg19	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875148	0.51695	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.9	4.92	0.64577	Myosin head, motor domain (2);	0.041372	0.85682	D	0.000000	D	0.83644	0.5299	L	0.37466	1.105	0.58432	D	0.999998	P;B;P	0.44380	0.801;0.108;0.834	P;B;P	0.52598	0.476;0.061;0.703	T	0.79688	-0.1699	10	0.27785	T	0.31	.	3.9069	0.09186	0.3188:0.0:0.6812:0.0	.	510;510;510	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	I	510;510;509;519;519	ENSP00000386497:R510I;ENSP00000386213:R510I;ENSP00000446237:R519I;ENSP00000335100:R519I	ENSP00000314213:R509I	R	+	2	0	MYO3B	170952016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.470000	0.66756	2.793000	0.96121	0.563000	0.77884	AGA		TCGA-IB-7651-01A-11D-2154-08	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	1	0	1	88	439	0	114	0	0	0	1	0	114	2		0	0	0	0	0	2	1	1	84	427	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO3B	140469	broad.mit.edu	37	2	171248064	171248064	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171248064T>C	ENST00000408978.4	+	15	1755	c.1612T>C	c.(1612-1614)Tat>Cat	p.Y538H	MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000334231.6_Missense_Mutation_p.Y547H|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB			59					TTACTATATTTATGCTGGTCT	0.343000																								0							SO:0001583	missense			ENST00000408978.4	1	1	hg19	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562697	0.86335	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.88979	2.995	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.997;0.981;0.998	D	0.95283	0.8388	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	538;538;538	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	H	538;538;537;547;547	ENSP00000386497:Y538H;ENSP00000386213:Y538H;ENSP00000446237:Y547H;ENSP00000335100:Y547H	ENSP00000314213:Y537H	Y	+	1	0	MYO3B	170956310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.499000	0.81566	2.371000	0.80710	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1	0	0	0	7	249	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	9.796209e-01	7	244	0	44	2								-8.919699	1	0	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.360000	0.160000	0.670000	0.340000	0.390764	0.360000	0	2.500000e-01	5.200000e-01
GAD1	2571	broad.mit.edu	37	2	171675171	171675171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171675171C>A	ENST00000358196.3	+	2	620	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	AC007405.8_ENST00000418106.1_RNA|AC007405.8_ENST00000451730.1_RNA|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M|AC007405.8_ENST00000455988.1_RNA|GAD1_ENST00000344257.5_Missense_Mutation_p.L24M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)			35					TACCACTAACCTGCGCCCCAC	0.622000																								0							SO:0001583	missense			ENST00000358196.3	1	1	hg19	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850212	0.71719	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	D;D;T;T;T;T;T	0.90504	-1.75;-2.68;2.23;0.35;0.35;-1.38;-1.23	5.67	5.67	0.87782	.	0.183599	0.39083	N	0.001470	D	0.93252	0.7850	L	0.51422	1.61	0.44825	D	0.997839	D;D	0.71674	0.997;0.998	D;D	0.69142	0.942;0.962	D	0.93093	0.6501	10	0.54805	T	0.06	-8.7481	14.9773	0.71283	0.0:0.9299:0.0:0.0701	.	24;24	Q99259;Q99259-3	DCE1_HUMAN;.	M	24	ENSP00000402366:L24M;ENSP00000394948:L24M;ENSP00000350928:L24M;ENSP00000364421:L24M;ENSP00000341167:L24M;ENSP00000405917:L24M;ENSP00000394255:L24M	ENSP00000341167:L24M	L	+	1	2	GAD1	171383417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.625000	0.37029	2.667000	0.90743	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	1	138	433	0	105	1	7.364304e-01	3	7	0	105	2		0	0	0	0	0	2	1	1	133	425	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAD1	2571	broad.mit.edu	37	2	171678658	171678658	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171678658C>T	ENST00000358196.3	+	3	694	c.144C>T	c.(142-144)tgC>tgT	p.C48C	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Splice_Site_p.C48C|GAD1_ENST00000344257.5_Splice_Site_p.C48C	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)			35					TCAAGATCTGCGGTAAGTGAC	0.657000																								0							SO:0001630	splice_region_variant			ENST00000358196.3	0	0	hg19	CCDS2239.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	1	16	97	0	10	1	2.785809e-01	5	2	0	10	2		0	0	0	0	0	2	1	9.999198e-01	14	91	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999106	0.990000	1	9.900000e-01	1
GAD1	2571	broad.mit.edu	37	2	171686050	171686050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171686050C>T	ENST00000358196.3	+	4	761	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*|GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)			35					CAAGGAGAGGCAATCCTCCAA	0.542000																								0							SO:0001587	stop_gained			ENST00000358196.3	0	1	hg19	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113533	0.94339	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	.	.	.	5.37	5.37	0.77165	.	0.152297	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-4.5418	19.1006	0.93272	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000341167:Q71X	Q	+	1	0	GAD1	171394296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.948000	0.49066	2.483000	0.83821	0.542000	0.68232	CAA		TCGA-IB-7651-01A-11D-2154-08	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	0	169	529	0	120	0	5.327734e-01	0	7	0	120	2		0	0	0	0	0	2	1	1	168	519	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAD1	2571	broad.mit.edu	37	2	171702066	171702066	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702066T>C	ENST00000358196.3	+	8	1352	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)			35					CTACAAGTACTTCCCGGAAGT	0.517000																								0							SO:0001583	missense			ENST00000358196.3	1	1	hg19	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634935	0.47049	.	.	ENSG00000128683	ENST00000358196	T	0.35236	1.32	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.49571	1.57	0.80722	D	1	P	0.49862	0.929	P	0.50049	0.629	T	0.43442	-0.9391	10	0.66056	D	0.02	-17.3573	15.91	0.79467	0.0:0.0:0.0:1.0	.	268	Q99259	DCE1_HUMAN	L	268	ENSP00000350928:F268L	ENSP00000350928:F268L	F	+	1	0	GAD1	171410312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.141000	0.66446	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	1	87	437	0	122	0	2.825376e-02	0	2	0	122	2		0	0	0	0	0	2	1	1	83	431	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GORASP2	26003	broad.mit.edu	37	2	171804913	171804913	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171804913T>G	ENST00000234160.4	+	2	932	c.117T>G	c.(115-117)ttT>ttG	p.F39L	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa			14					TCTTTGATTTTATTGTTTCTA	0.328000																								0							SO:0001583	missense			ENST00000234160.4	1	1	hg19	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583517	0.86748	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.27402	1.67;1.67	5.73	5.73	0.89815	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.67421	-0.5675	10	0.72032	D	0.01	-19.5199	16.3265	0.82983	0.0:0.0:0.0:1.0	.	51;39	B4DKT0;Q9H8Y8	.;GORS2_HUMAN	L	39;51	ENSP00000234160:F39L;ENSP00000410208:F51L	ENSP00000234160:F39L	F	+	3	2	GORASP2	171513159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.518000	0.35877	2.313000	0.78055	0.455000	0.32223	TTT		TCGA-IB-7651-01A-11D-2154-08	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2	1	0	1	36	224	0	50	1	1	73	223	0	50	2		0	0	0	0	0	2	1	1	35	221	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
CYBRD1	79901	broad.mit.edu	37	2	172411148	172411148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172411148G>A	ENST00000321348.4	+	4	870	c.672G>A	c.(670-672)tgG>tgA	p.W224*	CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*|CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1			10					GACCGCAATGGAAACGTCCTA	0.498000																								0							SO:0001587	stop_gained			ENST00000321348.4	0	1	hg19	CCDS2244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230925|4.230925	0.79688|0.79688	.|.	.|.	ENSG00000071967|ENSG00000071967	ENST00000375252|ENST00000409484;ENST00000321348	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46580|.	0.1400|.	.|.	.|.	.|.	0.38973|0.38973	D|D	0.958784|0.958784	D|.	0.63046|.	0.992|.	P|.	0.61592|.	0.891|.	T|.	0.40496|.	-0.9560|.	7|.	0.87932|0.02654	D|T	0|1	-0.5167|-0.5167	18.6553|18.6553	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155|.	Q53TN4-2|.	.|.	K|X	155|166;224	.|.	ENSP00000364401:E155K|ENSP00000319141:W224X	E|W	+|+	1|3	0|0	CYBRD1|CYBRD1	172119394|172119394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.495000|8.495000	0.90481|0.90481	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	GAA|TGG		TCGA-IB-7651-01A-11D-2154-08	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	1	0	0	66	183	0	48	1	1	163	648	0	48	2		0	0	0	0	0	2	1	1	66	181	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A12	8604	broad.mit.edu	37	2	172648089	172648089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172648089G>A	ENST00000422440.2	-	15	1494	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12			23			OV - Ovarian serous cystadenocarcinoma(117;0.216)	L-Aspartic Acid(DB00128)	GAGGAAACACGCTTTGGCACC	0.448000																								0							SO:0001583	missense			ENST00000422440.2	1	1	hg19	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449200	0.96205	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79352	-1.26;-1.26	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89034	0.3444	10	0.87932	D	0	-10.5306	20.6593	0.99626	0.0:0.0:1.0:0.0	.	379;486	B3KR64;O75746	.;CMC1_HUMAN	V	486;379	ENSP00000388658:A486V;ENSP00000376371:A379V	ENSP00000376371:A379V	A	-	2	0	SLC25A12	172356335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.824000	0.99380	2.885000	0.99019	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	1	0	1	100	265	0	81	1	1	20	59	0	81	2		0	0	0	0	0	2	1	1	99	260	0	80	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA6	3655	broad.mit.edu	37	2	173368845	173368845	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173368845C>T	ENST00000264106.6	+	26	3461	c.3258C>T	c.(3256-3258)taC>taT	p.Y1086Y	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000264107.7_3'UTR|ITGA6_ENST00000409080.1_Silent_p.Y1047Y|ITGA6_ENST00000375221.2_3'UTR|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000343713.4_3'UTR			P23229	ITA6_HUMAN	integrin, alpha 6			44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)		GCTCTAGGTACGATGACAGTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000264106.6	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ITGA6-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	16	48	0	11	1	1	661	663	0	11	2		0	0	0	0	0	2	1	9.999677e-01	16	47	0	10	2								-14.534200	1	1	120738	13	38	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PDK1	5163	broad.mit.edu	37	2	173457694	173457694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173457694G>A	ENST00000282077.3	+	10	1270	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H|PDK1_ENST00000410055.1_Missense_Mutation_p.R363H|PDK1_ENST00000543905.1_Missense_Mutation_p.R287H			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1			16			OV - Ovarian serous cystadenocarcinoma(117;0.12)		CCCATATCACGTCTTTACGCA	0.383000									Autosomal Dominant Polycystic Kidney Disease															0							SO:0001583	missense	Familial Cancer Database	ADPKD	ENST00000282077.3	1	1	hg19	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740561	0.96873	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.8	5.8	0.92144	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.099648	0.64402	D	0.000001	T	0.79992	0.4542	H	0.94620	3.56	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.61477	0.889;0.874	D	0.85090	0.0951	10	0.87932	D	0	-3.439	20.1182	0.97944	0.0:0.0:1.0:0.0	.	363;383	Q15118;E9PD65	PDK1_HUMAN;.	H	287;208;363;383;363	ENSP00000438567:R287H;ENSP00000437502:R208H;ENSP00000282077:R363H;ENSP00000376352:R383H;ENSP00000386985:R363H	ENSP00000282077:R363H	R	+	2	0	PDK1	173165940	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.775000	0.98995	2.775000	0.95449	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	1	0	1	123	347	0	97	1	1	14	73	0	97	2		0	0	0	0	0	2	1	1	121	341	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF4	11069	broad.mit.edu	37	2	173830410	173830410	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173830410C>T	ENST00000397081.3	+	9	962	c.819C>T	c.(817-819)caC>caT	p.H273H	RAPGEF4_ENST00000535187.1_Splice_Site_p.H53H|RAPGEF4_ENST00000264111.6_Splice_Site_p.H272H|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273H|RAPGEF4_ENST00000397087.3_Splice_Site_p.H129H|RAPGEF4_ENST00000539331.1_Splice_Site_p.H120H|RAPGEF4_ENST00000538974.1_Splice_Site_p.H102H|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120H	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4			47			OV - Ovarian serous cystadenocarcinoma(117;0.194)		TTCTCAACCACGGTAAGATGA	0.483000																								0							SO:0001630	splice_region_variant			ENST00000397081.3	0	1	hg19	CCDS42775.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	0	0	0	14	430	0	78	0	4.428855e-02	0	10	0	78	2		0	0	0	0	0	2	1	9.997301e-01	14	422	0	78	2								-13.102160	1	1	120984	4	37	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.410000	0.230000	0.640000	0.390000	0.426164	0.410000	0	3.100000e-01	5.300000e-01
RAPGEF4	11069	broad.mit.edu	37	2	173848280	173848280	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173848280T>G	ENST00000397081.3	+	11	1204	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.I353S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4			47			OV - Ovarian serous cystadenocarcinoma(117;0.194)		CTTCTTCATATTAAAGCCTTA	0.388000																								0							SO:0001583	missense			ENST00000397081.3	1	1	hg19	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940936	0.73557	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	M	0.79926	2.475	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.919;0.531;0.999	D;D;P;P;D	0.87578	0.989;0.997;0.771;0.466;0.998	D	0.93435	0.6789	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	181;183;210;354;354	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	S	353;354;354;210;183;201;201;181;134	ENSP00000264111:I353S;ENSP00000380271:I354S;ENSP00000387104:I354S;ENSP00000380276:I210S;ENSP00000440135:I183S;ENSP00000440250:I201S;ENSP00000437384:I201S;ENSP00000438011:I134S	ENSP00000264111:I353S	I	+	2	0	RAPGEF4	173556526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	2.333000	0.79357	0.482000	0.46254	ATT		TCGA-IB-7651-01A-11D-2154-08	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	1	0	1	96	478	0	79	0	5.733900e-01	1	10	0	79	2		0	0	0	0	0	2	1	1	93	467	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF4	11069	broad.mit.edu	37	2	173891399	173891399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173891399T>C	ENST00000397081.3	+	24	2496	c.2353T>C	c.(2353-2355)Tgg>Cgg	p.W785R	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.W784R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4			47			OV - Ovarian serous cystadenocarcinoma(117;0.194)		AATTTATGATTGGGAACTCTT	0.438000																								0							SO:0001583	missense			ENST00000397081.3	1	1	hg19	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216318	0.79352	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.42	5.42	0.78866	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.87456	2.885	0.80722	D	1	D;D	0.58268	0.982;0.97	P;D	0.68765	0.799;0.96	T	0.68580	-0.5371	10	0.87932	D	0	.	15.7539	0.78009	0.0:0.0:0.0:1.0	.	641;785	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	R	784;785;785;641;614;632;632;565;16	ENSP00000264111:W784R;ENSP00000380271:W785R;ENSP00000387104:W785R;ENSP00000380276:W641R;ENSP00000440135:W614R;ENSP00000440250:W632R;ENSP00000437384:W632R;ENSP00000438011:W565R;ENSP00000380274:W16R	ENSP00000264111:W784R	W	+	1	0	RAPGEF4	173599645	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.655000	0.83696	2.189000	0.69895	0.533000	0.62120	TGG		TCGA-IB-7651-01A-11D-2154-08	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	1	0	1	89	381	0	90	0	8.057220e-01	0	15	0	90	2		0	0	0	0	0	2	1	1	89	376	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF4	11069	broad.mit.edu	37	2	173916387	173916387	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173916387T>C	ENST00000397081.3	+	31	3071	c.2928T>C	c.(2926-2928)gcT>gcC	p.A976A	RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000264111.6_Silent_p.A975A|RAPGEF4_ENST00000409036.1_Silent_p.A908A|RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000538974.1_Silent_p.A805A|RAPGEF4_ENST00000540783.1_Silent_p.A823A	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4			47			OV - Ovarian serous cystadenocarcinoma(117;0.194)		CAGCTCAAGCTAATAAGAACC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000397081.3	1	1	hg19	CCDS42775.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	1	0	1	49	223	0	50	1	6.663916e-01	2	10	0	50	2		0	0	0	0	0	2	1	1	49	217	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR155	151556	broad.mit.edu	37	2	175300962	175300962	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175300962C>T	ENST00000392552.2	-	16	2733	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	GPR155_ENST00000295500.4_Missense_Mutation_p.R832K|GPR155_ENST00000392551.2_Missense_Mutation_p.R832K|GPR155_ENST00000459996.1_5'Flank	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155			26					TTGAAGAAATCTGTAAAACAA	0.433000																								0							SO:0001583	missense			ENST00000392552.2	1	1	hg19	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500226	0.85176	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.26518	1.73;1.73;1.73	6.17	6.17	0.99709	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.107097	0.64402	D	0.000005	T	0.48333	0.1494	M	0.78223	2.4	0.58432	D	0.999997	D	0.58268	0.982	P	0.54401	0.751	T	0.23655	-1.0182	10	0.35671	T	0.21	-20.6633	20.8794	0.99867	0.0:1.0:0.0:0.0	.	832	Q7Z3F1	GP155_HUMAN	K	832	ENSP00000376335:R832K;ENSP00000376334:R832K;ENSP00000295500:R832K	ENSP00000295500:R832K	R	-	2	0	GPR155	175009208	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.623000	0.74238	2.941000	0.99782	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	0	0	1	160	775	0	159	1	9.909491e-01	6	31	0	159	2		0	0	0	0	0	2	1	1	160	754	0	159	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WIPF1	7456	broad.mit.edu	37	2	175439979	175439979	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175439979A>G	ENST00000392547.2	-	4	410	c.311T>C	c.(310-312)tTc>tCc	p.F104S	AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1			32					TCCAGCCTGGAACAATCCTCC	0.592000																								0							SO:0001583	missense			ENST00000392547.2	1	1	hg19	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977920	0.92982	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117	D;D;D;D;D;D;T;T	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;2.58;2.58	5.55	5.55	0.83447	.	0.054881	0.64402	D	0.000001	D	0.93726	0.7995	M	0.84326	2.69	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.997;0.996;0.997;0.994	D	0.94433	0.7651	10	0.66056	D	0.02	.	15.7042	0.77565	1.0:0.0:0.0:0.0	.	104;104;104;104	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	104;104;104;104;104;104;104;101;104	ENSP00000376330:F104S;ENSP00000272746:F104S;ENSP00000352802:F104S;ENSP00000376329:F104S;ENSP00000386431:F104S;ENSP00000387150:F104S;ENSP00000391785:F101S;ENSP00000386757:F104S	ENSP00000272746:F104S	F	-	2	0	WIPF1	175148225	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.123000	0.89586	2.113000	0.64589	0.379000	0.24179	TTC		TCGA-IB-7651-01A-11D-2154-08	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	1	0	1	300	748	0	160	1	1	2	152	0	160	2		0	0	0	0	0	2	1	1	295	720	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WIPF1	7456	broad.mit.edu	37	2	175440090	175440090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175440090G>A	ENST00000392547.2	-	4	299	c.200C>T	c.(199-201)gCt>gTt	p.A67V	AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1			32					accgcctccagcaccaGCTCC	0.597000																								0							SO:0001583	missense			ENST00000392547.2	0	1	hg19	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901958	0.33535	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;2.3;1.57;1.57	4.36	1.47	0.22746	.	1.527220	0.04604	N	0.399003	T	0.75466	0.3853	L	0.40543	1.245	0.27310	N	0.957345	B;B;B;B	0.24186	0.069;0.099;0.069;0.049	B;B;B;B	0.21917	0.037;0.016;0.037;0.016	T	0.62048	-0.6936	10	0.59425	D	0.04	.	10.3513	0.43937	0.0855:0.5787:0.3358:0.0	.	67;67;67;67	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	V	67;67;67;67;67;67;67;64;67;67	ENSP00000376330:A67V;ENSP00000272746:A67V;ENSP00000352802:A67V;ENSP00000376329:A67V;ENSP00000386431:A67V;ENSP00000387150:A67V;ENSP00000391785:A64V;ENSP00000386757:A67V;ENSP00000388454:A67V	ENSP00000272746:A67V	A	-	2	0	WIPF1	175148336	0.872000	0.30054	0.190000	0.23270	0.109000	0.19521	0.978000	0.29488	0.183000	0.20059	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	0	0	0	22	1077	0	189	0	4.927333e-01	0	80	0	189	2		0	0	0	0	0	2	1	9.999980e-01	21	1039	0	189	2								-2.631427	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.250000	0.160000	0.380000	0.250000	0.265862	0.250000	0	2.000000e-01	3.200000e-01
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175614714C>T	ENST00000261007.5	-	8	1103	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.R321H	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	p.R346L(2)		37				Galantamine(DB00674)	GCTGGGTGAGCGGTGGTGTGT	0.557000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000261007.5	1	1	hg19	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499947	0.85176	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049415	0.85682	D	0.000000	D	0.94466	0.8219	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94813	0.7980	10	0.87932	D	0	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	321;346	Q53SH4;P02708	.;ACHA_HUMAN	H	321;346;239;321	ENSP00000261008:R321H;ENSP00000261007:R346H;ENSP00000387026:R239H;ENSP00000386611:R321H	ENSP00000261007:R346H	R	-	2	0	CHRNA1	175322960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.815000	0.86186	2.527000	0.85204	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1	1	0	1	49	307	0	77	0	5.545054e-01	0	13	0	77	2		0	0	0	0	0	2	1	1	49	303	0	75	2								-19.974610	1	1	121412	2	34	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CHRNA1	1134	broad.mit.edu	37	2	175624353	175624353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175624353C>T	ENST00000261007.5	-	2	118	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V18I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	p.V18F(1)		37				Galantamine(DB00674)	GAGCCCAGGACGAGGCCAGCT	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000261007.5	1	1	hg19	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445994	0.43429	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;D;T;T	0.83163	-1.16;-1.28;-1.69;-1.45;-0.79	5.92	3.12	0.35913	.	0.188846	0.45606	D	0.000347	T	0.72953	0.3525	L	0.33189	0.99	0.32774	N	0.50346	B;B;B	0.13145	0.007;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.002	T	0.74241	-0.3729	10	0.37606	T	0.19	.	11.4068	0.49902	0.0:0.8099:0.0:0.1901	.	18;18;18	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	18	ENSP00000261008:V18I;ENSP00000261007:V18I;ENSP00000387026:V18I;ENSP00000386611:V18I;ENSP00000386684:V18I	ENSP00000261007:V18I	V	-	1	0	CHRNA1	175332599	0.885000	0.30320	0.996000	0.52242	0.981000	0.71138	1.785000	0.38684	1.503000	0.48686	0.467000	0.42956	GTC		TCGA-IB-7651-01A-11D-2154-08	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1	1	0	0	82	445	0	79	0	0	0	1	0	79	2		0	0	0	0	0	2	1	1	81	439	0	78	2								-20.000000	1	1	121412	3	42	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP5G3	518	broad.mit.edu	37	2	176043125	176043125	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176043125G>T	ENST00000284727.4	-	5	3344	c.320C>A	c.(319-321)cCt>cAt	p.P107H	Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H|ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)			5			OV - Ovarian serous cystadenocarcinoma(117;0.147)		CTTCAGCGAAGGGTTTCTAAA	0.363000													GBM(30;387 605 18606 28805 47989)											0							SO:0001583	missense			ENST00000284727.4	1	1	hg19	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101759	0.76983	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.70164	-0.46;-0.46;-0.46	5.93	5.06	0.68205	ATPase, F0/V0 complex, subunit C (3);	0.045788	0.85682	D	0.000000	D	0.90463	0.7013	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95152	0.8273	10	0.87932	D	0	-12.4168	17.3342	0.87275	0.0:0.1249:0.8751:0.0	.	107	P48201	AT5G3_HUMAN	H	107	ENSP00000284727:P107H;ENSP00000387317:P107H;ENSP00000376324:P107H	ENSP00000284727:P107H	P	-	2	0	ATP5G3	175751371	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.808000	0.99193	1.525000	0.49052	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	1	0	1	37	373	0	81	1	1	258	1889	0	81	2		0	0	0	0	0	2	1	1	37	372	0	81	2								-2.716734	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.830000	1.000000	1.000000	0.984969	0.990000	1	9.800000e-01	1
ATP5G3	518	broad.mit.edu	37	2	176046212	176046212	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176046212C>A	ENST00000409194.1	-	2	55		c.e2-1		ATP5G3_ENST00000284727.4_Intron|ATP5G3_ENST00000392541.3_5'UTR			P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)			5			OV - Ovarian serous cystadenocarcinoma(117;0.147)		GGAAAAGAGGCTTAAGGTCAA	0.657000													GBM(30;387 605 18606 28805 47989)											0							SO:0001630	splice_region_variant			ENST00000409194.1	0	1	hg19	CCDS2263.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP5G3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334493.1	0	0	0	12	47	0	9	0	1.214525e-01	0	3	0	9	2		0	0	0	0	0	2	1	9.994551e-01	12	47	0	8	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999878	0.990000	1	9.900000e-01	1
KIAA1715	80856	broad.mit.edu	37	2	176802174	176802174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176802174G>T	ENST00000272748.4	-	12	1199	c.952C>A	c.(952-954)Cct>Act	p.P318T	KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T|KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715			20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)		CTAAACTCAGGAAGTCTTGGA	0.423000																								0							SO:0001583	missense			ENST00000272748.4	1	1	hg19	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926957	0.34002	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.61	5.61	0.85477	.	0.049239	0.85682	D	0.000000	T	0.78065	0.4225	M	0.61703	1.905	0.53005	D	0.999968	D;P;D;D	0.76494	0.999;0.93;0.997;0.973	D;P;P;P	0.71656	0.974;0.496;0.879;0.614	T	0.79296	-0.1862	9	0.87932	D	0	-4.2995	19.6271	0.95682	0.0:0.0:1.0:0.0	.	320;349;315;318	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	T	318;320;195;349;243	.	ENSP00000272748:P318T	P	-	1	0	KIAA1715	176510420	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	6.299000	0.72770	2.645000	0.89757	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	1	0	1	60	332	0	54	1	9.995340e-01	6	59	0	54	2		0	0	0	0	0	2	1	1	59	331	0	52	2								-3.322967	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1715	80856	broad.mit.edu	37	2	176812408	176812408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176812408C>T	ENST00000272748.4	-	9	753	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q|KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715			20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)		AGCTGCAGTTCGCTGACGAAT	0.403000																								0							SO:0001583	missense			ENST00000272748.4	1	1	hg19	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729288	0.89390	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.69463	2.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;0.995	D;B;D;P	0.91635	0.999;0.36;0.996;0.629	T	0.79631	-0.1723	9	0.87932	D	0	-8.9298	20.5407	0.99260	0.0:1.0:0.0:0.0	.	171;169;166;169	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	169;171;46;169;94	.	ENSP00000272748:R169Q	R	-	2	0	KIAA1715	176520654	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.769000	0.74985	2.865000	0.98341	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	1	0	0	26	310	0	63	1	9.742638e-01	6	66	0	63	2		0	0	0	0	0	2	1	9.999999e-01	26	302	0	62	2								-8.518037	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.660000	1.000000	1.000000	0.930839	0.990000	1	8.100000e-01	1
KIAA1715	80856	broad.mit.edu	37	2	176844565	176844565	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176844565A>C	ENST00000272748.4	-	5	536	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715			20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)		TTGGAAAAGAAGAAAATAATT	0.274000																								0							SO:0001583	missense			ENST00000272748.4	1	1	hg19	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398115	0.42512	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	5.31	4.12	0.48240	.	0.250174	0.43416	D	0.000579	T	0.48642	0.1511	L	0.55481	1.735	0.44652	D	0.997638	P;B;D;B	0.54601	0.898;0.284;0.967;0.212	B;B;B;B	0.43950	0.429;0.059;0.437;0.048	T	0.51482	-0.8700	9	0.87932	D	0	-2.4999	9.3517	0.38142	0.8403:0.0:0.0:0.1597	.	99;97;94;97	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	97;99;97;22;92	.	ENSP00000272748:F97V	F	-	1	0	KIAA1715	176552811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.229000	0.42990	0.913000	0.36797	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	1	0	1	14	80	0	27	1	9.974961e-01	11	51	0	27	2		0	0	0	0	0	2	1	9.998208e-01	13	80	0	27	2								-9.804354	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999093	0.990000	1	9.900000e-01	1
HOXD13	3239	broad.mit.edu	37	2	176959324	176959324	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176959324T>G	ENST00000392539.3	+	2	898	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13			6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)		CATTAACAAATTCATTAACAA	0.478000			T	NUP98	AML*										Dom	yes		2	2q31-q32	3239	homeo box D13		L	0							SO:0001583	missense			ENST00000392539.3	1	1	hg19	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384994	0.82792	.	.	ENSG00000128714	ENST00000392539	D	0.96011	-3.88	4.99	4.99	0.66335	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.97999	0.9341	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99050	1.0827	10	0.87932	D	0	.	15.1492	0.72684	0.0:0.0:0.0:1.0	.	300	P35453	HXD13_HUMAN	V	300	ENSP00000376322:F300V	ENSP00000376322:F300V	F	+	1	0	HOXD13	176667570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.825000	0.86693	2.234000	0.73211	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1	1	0	0	21	278	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	9.999974e-01	21	272	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.900000	0.580000	1.000000	1.000000	0.878173	0.900000	1	7.200000e-01	1
HOXD12	3238	broad.mit.edu	37	2	176964670	176964670	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964670C>T	ENST00000406506.2	+	1	213	c.141C>T	c.(139-141)ggC>ggT	p.G47G	HOXD12_ENST00000404162.2_Silent_p.G47G			P35452	HXD12_HUMAN	homeobox D12			10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)		ACCCGCGCGGCGCGCTGCCCT	0.711000																								0							SO:0001819	synonymous_variant			ENST00000406506.2	1	1	hg19	CCDS46456.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	1	0	0	135	281	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	130	276	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXD12	3238	broad.mit.edu	37	2	176964901	176964901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964901C>T	ENST00000406506.2	+	1	444	c.372C>T	c.(370-372)agC>agT	p.S124S	HOXD12_ENST00000404162.2_Silent_p.S124S			P35452	HXD12_HUMAN	homeobox D12			10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)		CCGAGTCTAGCCTGGCTCCTG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000406506.2	1	1	hg19	CCDS46456.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	1	0	0	34	131	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	34	128	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXD12	3238	broad.mit.edu	37	2	176965333	176965333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176965333G>A	ENST00000406506.2	+	2	730	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q			P35452	HXD12_HUMAN	homeobox D12			10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)		GTTGGAGAACGAATTCCTCGT	0.567000																								0							SO:0001583	missense			ENST00000406506.2	1	1	hg19	CCDS46456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.512092|3.512092	0.64522|0.64522	.|.	.|.	ENSG00000170178|ENSG00000170178	ENST00000406506|ENST00000404162	D|.	0.96365|.	-3.99|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83413|0.83413	0.5249|0.5249	M|M	0.82132|0.82132	2.575|2.575	0.39921|0.39921	D|D	0.974155|0.974155	D|D	0.89917|0.89917	1.0|1.0	D|D	0.91635|0.83275	0.999|0.996	D|D	0.86338|0.86338	0.1703|0.1703	10|8	0.87932|0.87932	D|D	0|0	.|.	18.9681|18.9681	0.92704|0.92704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|229	P35452|B5MCD3	HXD12_HUMAN|.	K|Q	220|229	ENSP00000385586:E220K|.	ENSP00000385586:E220K|ENSP00000385132:R229Q	E|R	+|+	1|2	0|0	HOXD12|HOXD12	176673579|176673579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	GAA|CGA		TCGA-IB-7651-01A-11D-2154-08	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	1	0	1	21	99	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.999984e-01	21	96	0	13	2								-20.000000	1	1	120876	1	32	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
RAD51AP2	729475	broad.mit.edu	37	2	17697531	17697531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17697531C>T	ENST00000399080.2	-	1	2175	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2			49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				TCCACATTCACAACTTGTTGA	0.318000																								0							SO:0001583	missense			ENST00000399080.2	1	1	hg19	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	6.638	0.486189	0.12641	.	.	ENSG00000214842	ENST00000399080	T	0.23552	1.9	4.42	-3.24	0.05094	.	.	.	.	.	T	0.08088	0.0202	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	9	0.26408	T	0.33	0.3519	5.3879	0.16227	0.0:0.2282:0.2636:0.5082	.	718	Q09MP3	R51A2_HUMAN	M	718	ENSP00000382030:V718M	ENSP00000382030:V718M	V	-	1	0	RAD51AP2	17561012	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.789000	0.04609	-0.656000	0.05380	-0.383000	0.06682	GTG		TCGA-IB-7651-01A-11D-2154-08	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	1	0	1	98	317	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	94	314	0	80	2								-20.000000	1	1	120790	5	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD51AP2	729475	broad.mit.edu	37	2	17698100	17698100	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698100C>T	ENST00000399080.2	-	1	1606	c.1583G>A	c.(1582-1584)aGt>aAt	p.S528N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2			49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				GGTTAAAATACTATTATCTTT	0.239000																								0							SO:0001583	missense			ENST00000399080.2	0	1	hg19	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	2.349	-0.349205	0.05173	.	.	ENSG00000214842	ENST00000399080	T	0.24538	1.85	4.69	-1.83	0.07833	.	.	.	.	.	T	0.12561	0.0305	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.17433	0.018	T	0.27938	-1.0059	9	0.48119	T	0.1	0.6513	6.2097	0.20621	0.0:0.3851:0.1301:0.4848	.	528	Q09MP3	R51A2_HUMAN	N	528	ENSP00000382030:S528N	ENSP00000382030:S528N	S	-	2	0	RAD51AP2	17561581	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.121000	0.10643	-0.266000	0.09339	0.563000	0.77884	AGT		TCGA-IB-7651-01A-11D-2154-08	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	1	0	1	10	50	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.974950e-01	10	49	0	15	2								-19.248180	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998709	0.990000	1	9.900000e-01	1
RAD51AP2	729475	broad.mit.edu	37	2	17698488	17698488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698488C>T	ENST00000399080.2	-	1	1218	c.1195G>A	c.(1195-1197)Gtt>Att	p.V399I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2			49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				ATATGTCTAACGTTACAGTCC	0.328000																								0							SO:0001583	missense			ENST00000399080.2	1	1	hg19	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.788986	0.02884	.	.	ENSG00000214842	ENST00000399080	T	0.25912	1.77	4.22	0.373	0.16178	.	.	.	.	.	T	0.06600	0.0169	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39354	-0.9618	9	0.05620	T	0.96	.	5.0445	0.14477	0.0:0.3547:0.1593:0.486	.	399	Q09MP3	R51A2_HUMAN	I	399	ENSP00000382030:V399I	ENSP00000382030:V399I	V	-	1	0	RAD51AP2	17561969	0.001000	0.12720	0.001000	0.08648	0.054000	0.15201	0.865000	0.27940	0.245000	0.21373	-0.440000	0.05779	GTT		TCGA-IB-7651-01A-11D-2154-08	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	1	0	1	46	258	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	46	254	0	64	2								-19.997280	1	1	120776	2	30	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXD9	3235	broad.mit.edu	37	2	176987568	176987568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176987568G>A	ENST00000249499.6	+	1	481	c.72G>A	c.(70-72)tcG>tcA	p.S24S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9			10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)		ACGTGGACTCGCTTATAGGCC	0.687000													GBM(47;924 952 7959 9248 12176)											0							SO:0001819	synonymous_variant			ENST00000249499.6	1	1	hg19	CCDS2267.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4	1	0	0	28	147	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	1	28	147	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
HOXD8	3234	broad.mit.edu	37	2	176995386	176995386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176995386G>A	ENST00000313173.4	+	1	919	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000450510.2_Missense_Mutation_p.G98R|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8			9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)		CCACCCCGGCGGGGGCAGCCC	0.796000																								0							SO:0001583	missense			ENST00000313173.4	0	1	hg19	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925318	0.52759	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	D;D;D	0.91631	-2.88;-2.76;-2.76	3.8	2.91	0.33838	.	0.227351	0.28841	N	0.013975	T	0.80518	0.4638	N	0.08118	0	0.27208	N	0.959996	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.68334	-0.5436	10	0.30078	T	0.28	.	8.0588	0.30621	0.2098:0.0:0.7902:0.0	.	98;98	Q8IXZ1;P13378	.;HXD8_HUMAN	R	98	ENSP00000315949:G98R;ENSP00000437431:G98R;ENSP00000409026:G98R	ENSP00000315949:G98R	G	+	1	0	HOXD8	176703632	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.658000	0.37376	0.729000	0.32403	0.442000	0.29010	GGG		TCGA-IB-7651-01A-11D-2154-08	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1	0	0	0	7	377	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	9.676593e-01	7	323	0	40	2								-7.012735	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.240000	0.100000	0.450000	0.240000	0.262312	0.240000	0	1.600000e-01	3.500000e-01
HOXD4	3233	broad.mit.edu	37	2	177016490	177016490	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:177016490C>T	ENST00000306324.3	+	1	541	c.129C>T	c.(127-129)ggC>ggT	p.G43G	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4			9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)		GCGCGCAGGGCGCAGACTTCC	0.716000																								0							SO:0001819	synonymous_variant			ENST00000306324.3	0	1	hg19	CCDS2269.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2	0	0	0	45	202	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	44	195	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VSNL1	7447	broad.mit.edu	37	2	17773500	17773500	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17773500G>A	ENST00000406397.1	+	2	684	c.159G>A	c.(157-159)gtG>gtA	p.V53V	VSNL1_ENST00000295156.4_Silent_p.V53V|VSNL1_ENST00000404666.2_Silent_p.V53V			P62760	VISL1_HUMAN	visinin-like 1			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				AGCTCTATGTGAAGGTAAGTT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000406397.1	1	1	hg19	CCDS1689.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	1	0	0	57	673	0	106	0	2.757164e-01	1	12	0	106	2		0	0	0	0	0	2	1	1	56	659	0	106	2								-13.195170	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.760000	1.000000	1.000000	0.952757	0.990000	1	8.700000e-01	1
TTC30B	150737	broad.mit.edu	37	2	178415760	178415760	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178415760G>A	ENST00000408939.3	-	1	1982	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B			23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		TCTGTTCCCAGCTTTTTGTTG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000408939.3	1	1	hg19	CCDS42784.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	0	0	0	283	868	0	218	1	9.959506e-01	10	18	0	218	2		0	0	0	0	0	2	1	1	279	851	0	214	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC30A	92104	broad.mit.edu	37	2	178482197	178482197	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178482197C>A	ENST00000355689.5	-	1	1497	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A			30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		CATTCACTGCCTTTTTGATAG	0.428000																								0							SO:0001583	missense			ENST00000355689.5	1	1	hg19	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241587	0.10077	.	.	ENSG00000197557	ENST00000355689	T	0.38722	1.12	5.91	0.404	0.16355	Tetratricopeptide-like helical (1);	0.042836	0.85682	D	0.000000	T	0.44540	0.1298	M	0.70275	2.135	0.48571	D	0.999674	P	0.52842	0.956	P	0.50754	0.649	T	0.26710	-1.0095	10	0.38643	T	0.18	.	5.8059	0.18440	0.121:0.4448:0.0:0.4342	.	411	Q86WT1	TT30A_HUMAN	N	411	ENSP00000347915:K411N	ENSP00000347915:K411N	K	-	3	2	TTC30A	178190443	0.995000	0.38212	0.418000	0.26571	0.130000	0.20726	0.333000	0.19768	-0.209000	0.10156	-0.194000	0.12790	AAG		TCGA-IB-7651-01A-11D-2154-08	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	1	0	0	245	918	0	214	1	9.784938e-01	8	17	0	214	2		0	0	0	0	0	2	1	1	240	908	0	241	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC30A	92104	broad.mit.edu	37	2	178483101	178483101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483101G>A	ENST00000355689.5	-	1	593	c.329C>T	c.(328-330)gCc>gTc	p.A110V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A			30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		GCTGTGGTAGGCGGGGTTATC	0.637000																								0							SO:0001583	missense			ENST00000355689.5	0	1	hg19	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300224	0.40694	.	.	ENSG00000197557	ENST00000355689	T	0.78816	-1.21	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.311741	0.39083	N	0.001467	T	0.75191	0.3816	L	0.48642	1.525	0.47862	D	0.999533	B	0.17268	0.021	B	0.20767	0.031	T	0.66917	-0.5802	10	0.32370	T	0.25	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	110	Q86WT1	TT30A_HUMAN	V	110	ENSP00000347915:A110V	ENSP00000347915:A110V	A	-	2	0	TTC30A	178191347	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.468000	0.53086	2.868000	0.98415	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	0	0	0	16	354	0	66	0	1.505107e-01	0	15	0	66	2		0	0	0	0	0	2	1	9.999217e-01	16	344	0	65	2								-17.047700	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.560000	0.330000	0.850000	0.540000	0.577963	0.560000	0	4.300000e-01	7.100000e-01
TTC30A	92104	broad.mit.edu	37	2	178483364	178483364	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483364G>T	ENST00000355689.5	-	1	330	c.66C>A	c.(64-66)atC>atA	p.I22I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A			30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		GGGCATCGCGGATGAGCCGGT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000355689.5	0	1	hg19	CCDS2276.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	1	0	1	11	75	0	21	0	5.243446e-02	1	2	0	21	2		0	0	0	0	0	2	1	9.986124e-01	11	74	0	21	2								-18.756020	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.890000	1.000000	1.000000	0.993875	0.990000	1	9.900000e-01	1
PDE11A	50940	broad.mit.edu	37	2	178592804	178592804	+	Missense_Mutation	SNP	G	G	A	rs142279060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178592804G>A	ENST00000286063.6	-	11	2202	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A			58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)	Caffeine(DB00201)|Tadalafil(DB00820)	ATGAACATCCGGAGAGCAGCT	0.468000									Primary Pigmented Nodular Adrenocortical Disease, Familial															0							SO:0001583	missense	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	ENST00000286063.6	1	1	hg19	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376199	0.82682	2.27E-4	0.0	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.54	5.54	0.83059	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.979	D	0.89515	0.3774	10	0.87932	D	0	.	19.4884	0.95039	0.0:0.0:1.0:0.0	.	379;629	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	W	629;379;271;185;271	ENSP00000286063:R629W;ENSP00000351232:R379W;ENSP00000386539:R271W;ENSP00000374333:R185W;ENSP00000390599:R271W	ENSP00000286063:R629W	R	-	1	2	PDE11A	178301050	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.344000	0.59354	2.609000	0.88269	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2	1	0	1	97	202	0	42	1	6.290969e-01	3	3	0	42	2		0	0	0	0	0	2	1	1	96	200	0	42	2								-9.288366	1	1	121412	18	45	1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM45	129831	broad.mit.edu	37	2	178977542	178977542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178977542G>A	ENST00000286070.5	+	1	361	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45			27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		CATGGCCAGTGCCTCGGCCCC	0.657000																								0							SO:0001583	missense			ENST00000286070.5	1	1	hg19	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187412	0.57909	.	.	ENSG00000155636	ENST00000286070	D	0.85556	-2.0	4.73	2.9	0.33743	.	0.230414	0.43919	N	0.000503	T	0.74122	0.3675	N	0.03983	-0.305	0.44595	D	0.997569	D	0.54207	0.965	P	0.51135	0.66	T	0.77517	-0.2558	10	0.66056	D	0.02	-5.4128	9.7539	0.40492	0.169:0.0:0.831:0.0	.	90	Q8IUH3-3	.	Y	90	ENSP00000286070:C90Y	ENSP00000286070:C90Y	C	+	2	0	RBM45	178685788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.216000	0.58540	1.122000	0.41944	0.563000	0.77884	TGC		TCGA-IB-7651-01A-11D-2154-08	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	1	0	0	23	332	0	81	1	5.958753e-01	4	26	0	81	2		0	0	0	0	0	2	1	9.999993e-01	23	327	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.830000	0.540000	1.000000	1.000000	0.830988	0.830000	0	6.700000e-01	1
OSBPL6	114880	broad.mit.edu	37	2	179192982	179192982	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179192982G>A	ENST00000190611.4	+	5	571		c.e5-1		OSBPL6_ENST00000477097.1_Splice_Site|OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6			46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		TTTTCTCTCAGGAAGCTGACA	0.393000																								0							SO:0001630	splice_region_variant			ENST00000190611.4	1	1	hg19	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248864	0.80024	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSBPL6	178901228	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.350000	0.97070	2.577000	0.86979	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	1	0	1	94	510	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	91	498	0	106	2								-2.967848	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL6	114880	broad.mit.edu	37	2	179248841	179248841	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179248841G>T	ENST00000190611.4	+	18	2327	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6			46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		ATTCAACCCAGTCCTTGGGGA	0.448000																								0							SO:0001583	missense			ENST00000190611.4	1	1	hg19	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955235	0.92726	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.91	5.91	0.95273	.	0.056980	0.64402	D	0.000001	T	0.61311	0.2337	M	0.87328	2.875	0.80722	D	1	B;P;D;D;P	0.56287	0.272;0.551;0.975;0.969;0.837	B;B;P;P;B	0.61070	0.209;0.283;0.883;0.613;0.435	T	0.65088	-0.6253	10	0.62326	D	0.03	-13.4894	20.2985	0.98592	0.0:0.0:1.0:0.0	.	620;655;615;676;651	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	F	676;615;620;651;615;655	ENSP00000376293:V676F;ENSP00000352713:V615F;ENSP00000387248:V620F;ENSP00000190611:V651F;ENSP00000386885:V615F;ENSP00000318723:V655F	ENSP00000190611:V651F	V	+	1	0	OSBPL6	178957087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.247000	0.65416	2.793000	0.96121	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	1	0	1	238	1253	0	309	1	6.793237e-01	6	8	0	309	2		0	0	0	0	0	2	1	1	236	1230	0	306	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL6	114880	broad.mit.edu	37	2	179253867	179253867	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179253867T>C	ENST00000190611.4	+	21	2664	c.2288T>C	c.(2287-2289)cTc>cCc	p.L763P	OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6			46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		ATTTGCAAACTCACATTTGTC	0.338000																								0							SO:0001583	missense			ENST00000190611.4	1	1	hg19	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577262	0.86645	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.65	5.65	0.86999	.	0.059218	0.64402	D	0.000001	T	0.72867	0.3514	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.76494	0.966;0.992;0.966;0.999;0.992	P;D;P;D;D	0.69479	0.894;0.921;0.894;0.964;0.915	T	0.81095	-0.1088	10	0.87932	D	0	-11.915	16.1778	0.81874	0.0:0.0:0.0:1.0	.	732;767;727;788;763	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	P	788;727;732;763;727;767	ENSP00000376293:L788P;ENSP00000352713:L727P;ENSP00000387248:L732P;ENSP00000190611:L763P;ENSP00000386885:L727P;ENSP00000318723:L767P	ENSP00000190611:L763P	L	+	2	0	OSBPL6	178962113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	CTC		TCGA-IB-7651-01A-11D-2154-08	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	1	0	0	65	148	0	42	1	9.372340e-01	6	7	0	42	2		0	0	0	0	0	2	1	1	62	143	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.176613	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DFNB59	494513	broad.mit.edu	37	2	179318256	179318256	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179318256G>A	ENST00000409117.3	+	2	476	c.120G>A	c.(118-120)aaG>aaA	p.K40K	DFNB59_ENST00000375129.4_Silent_p.K40K|PRKRA_ENST00000432031.2_5'Flank|PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000325748.4_5'Flank|PRKRA_ENST00000487082.1_5'Flank|PRKRA_ENST00000438687.3_5'Flank	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59			18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		TGGTAAAAAAGAAGCGATGCT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000409117.3	1	0	hg19	CCDS42787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1	1	0	1	74	212	0	48	0	6.848328e-02	0	2	0	48	2		0	0	0	0	0	2	1	1	66	211	0	48	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
FKBP7	51661	broad.mit.edu	37	2	179341872	179341872	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179341872T>G	ENST00000424785.2	-	2	348	c.290A>C	c.(289-291)gAc>gCc	p.D97A	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7			8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		CATAGCAATGTCTAGGCCTTT	0.398000													Melanoma(26;682 927 5286 17599 46613)											0							SO:0001583	missense			ENST00000424785.2	1	1	hg19	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677742	0.88445	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.58797	0.31;0.31	5.82	5.82	0.92795	.	0.042037	0.85682	D	0.000000	T	0.81394	0.4813	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.959;0.998	D	0.85766	0.1352	10	0.87932	D	0	-2.8742	16.19	0.81981	0.0:0.0:0.0:1.0	.	97;97;97	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	A	97	ENSP00000413152:D97A;ENSP00000415486:D97A	ENSP00000233092:D97A	D	-	2	0	FKBP7	179050118	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.698000	0.84413	2.225000	0.72522	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	0	0	0	13	491	0	67	0	7.106367e-01	1	93	0	67	2		0	0	0	0	0	2	1	9.995308e-01	13	489	0	65	2								-3.150998	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.340000	0.180000	1.000000	0.320000	0.405760	0.340000	0	2.500000e-01	4.900000e-01
TTN	7273	broad.mit.edu	37	2	179393838	179393838	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179393838G>T	ENST00000591111.1	-	310	101941	c.101717C>A	c.(101716-101718)tCt>tAt	p.S33906Y	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35547Y|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AATTTCTTCAGACCTTAGGGC	0.393000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.95	2.689384	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;0.14;0.12;0.11	5.54	5.54	0.83059	Ribonuclease H-like (1);	.	.	.	.	T	0.70334	0.3212	N	0.19112	0.55	0.39804	D	0.972609	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	D;D;D;D	0.71656	0.974;0.974;0.974;0.974	T	0.75431	-0.3320	9	0.87932	D	0	.	14.9955	0.71428	0.0:0.0:1.0:0.0	.	26482;26607;26674;33906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	32979;26482;26674;26607;26479	ENSP00000343764:S32979Y;ENSP00000434586:S26482Y;ENSP00000340554:S26674Y;ENSP00000352154:S26607Y	ENSP00000340554:S26674Y	S	-	2	0	TTN	179102084	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.390000	0.66261	2.607000	0.88179	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	43	130	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	43	128	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179395508	179395508	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179395508C>T	ENST00000591111.1	-	308	101135	c.100911G>A	c.(100909-100911)caG>caA	p.Q33637Q	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.Q35278Q|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTGGGAGGTGCTGAACTTTCT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	10	203	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.966298e-01	10	197	0	30	2								-4.446827	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.630000	0.320000	1.000000	1.000000	0.665780	0.630000	0	4.500000e-01	9.200000e-01
TTN	7273	broad.mit.edu	37	2	179396193	179396193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396193C>A	ENST00000591111.1	-	308	100450	c.100226G>T	c.(100225-100227)aGa>aTa	p.R33409I	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R35050I|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GAAAACAGATCTGGGGACCTC	0.473000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.08	2.129850	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;0.2;0.17;0.22	5.45	2.63	0.31362	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.44095	0.1277	N	0.19112	0.55	0.36256	D	0.854247	B;B;B;B	0.18166	0.026;0.026;0.026;0.026	B;B;B;B	0.22386	0.015;0.015;0.029;0.039	T	0.41124	-0.9526	9	0.87932	D	0	.	5.9207	0.19080	0.0:0.6427:0.1392:0.2181	.	25985;26110;26177;33409	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	32482;25985;26177;26110;25982	ENSP00000343764:R32482I;ENSP00000434586:R25985I;ENSP00000340554:R26177I;ENSP00000352154:R26110I	ENSP00000340554:R26177I	R	-	2	0	TTN	179104439	0.568000	0.26635	0.800000	0.32199	0.836000	0.47400	0.994000	0.29693	0.253000	0.21552	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	107	326	0	93	1	6.927791e-01	2	7	0	93	2		0	0	0	0	0	2	1	1	102	321	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179396844	179396844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396844G>A	ENST00000591111.1	-	308	99799	c.99575C>T	c.(99574-99576)gCg>gTg	p.A33192V	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A34833V|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TAGTCTAGACGCAGATGAGGA	0.453000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	3.741	-0.053536	0.07362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.6;0.58;0.57	5.55	3.04	0.35103	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.28665	0.0710	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22800	-1.0206	9	0.87932	D	0	.	7.9077	0.29771	0.6567:0.0:0.3433:0.0	.	25768;25893;25960;33192	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32265;25768;25960;25893;25765	ENSP00000343764:A32265V;ENSP00000434586:A25768V;ENSP00000340554:A25960V;ENSP00000352154:A25893V	ENSP00000340554:A25960V	A	-	2	0	TTN	179105090	0.860000	0.29831	0.051000	0.19133	0.336000	0.28762	1.809000	0.38922	0.334000	0.23590	-0.355000	0.07637	GCG		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	25	213	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	9.999998e-01	24	206	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.900000	1.000000	1.000000	0.994426	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179401007	179401007	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179401007A>G	ENST00000591111.1	-	307	95768	c.95544T>C	c.(95542-95544)tcT>tcC	p.S31848S	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.S33489S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN_ENST00000359218.5_Silent_p.S24549S|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTGGGACATCAGATTTGGGAG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	35	98	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	34	97	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179403534	179403534	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403534G>A	ENST00000591111.1	-	304	94323	c.94099C>T	c.(94099-94101)Ctt>Ttt	p.L31367F	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33008F|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GATATTGAAAGAATCTCAAGT	0.373000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.40	2.821590	0.50633	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57681	0.2070	L	0.53729	1.69	0.31624	N	0.649877	P;P;P;D	0.54397	0.934;0.934;0.934;0.966	P;P;P;P	0.49637	0.617;0.617;0.617;0.617	T	0.66288	-0.5961	9	0.87932	D	0	.	13.2697	0.60153	0.0:0.0:0.7415:0.2584	.	23943;24068;24135;31367	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30440;23943;24135;24068;23940	ENSP00000343764:L30440F;ENSP00000434586:L23943F;ENSP00000340554:L24135F;ENSP00000352154:L24068F	ENSP00000340554:L24135F	L	-	1	0	TTN	179111780	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.343000	0.59348	2.878000	0.98634	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	161	407	0	123	1	9.518329e-01	7	8	0	123	2		0	0	0	0	0	2	1	1	161	391	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179403774	179403774	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403774A>C	ENST00000591111.1	-	303	94189	c.93965T>G	c.(93964-93966)gTt>gGt	p.V31322G	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32963G|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGCATCGGGAACAAGCCCTGT	0.488000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.22	3.060845	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70902	0.3277	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68483	0.958;0.958;0.958;0.958	T	0.73672	-0.3909	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	23898;24023;24090;31322	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	30395;23898;24090;24023;23895	ENSP00000343764:V30395G;ENSP00000434586:V23898G;ENSP00000340554:V24090G;ENSP00000352154:V24023G	ENSP00000340554:V24090G	V	-	2	0	TTN	179112020	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.440000	0.80464	2.324000	0.78689	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	16	338	0	48	0	2.121495e-01	0	18	0	48	2		0	0	0	0	0	2	1	9.999317e-01	16	334	0	48	2								-4.398827	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.600000	0.350000	1.000000	0.570000	0.633813	0.600000	0	4.600000e-01	8.100000e-01
TTN	7273	broad.mit.edu	37	2	179407472	179407472	+	Missense_Mutation	SNP	G	G	T	rs146098114	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179407472G>T	ENST00000591111.1	-	298	92410	c.92186C>A	c.(92185-92187)aCt>aAt	p.T30729N	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T32370N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATCTCTGATAGTGGTTTCACG	0.393000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.40	3.819888	0.71028	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75591	0.3870	L	0.31120	0.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.77822	-0.2445	9	0.87932	D	0	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	23305;23430;23497;30729	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	29802;23305;23497;23430;23302	ENSP00000343764:T29802N;ENSP00000434586:T23305N;ENSP00000340554:T23497N;ENSP00000352154:T23430N	ENSP00000340554:T23497N	T	-	2	0	TTN	179115718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.903000	0.87398	2.677000	0.91161	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	155	756	0	150	0	1.381942e-01	0	4	0	150	2		0	0	0	0	0	2	1	1	154	747	0	148	2								-20.000000	1	1	120842	6	42	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179411070	179411070	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179411070G>T	ENST00000591111.1	-	292	90289	c.90065C>A	c.(90064-90066)tCt>tAt	p.S30022Y	TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31663Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATACTGCAAAGAGACTTTTTC	0.448000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.58	3.424982	0.62733	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82646	0.5082	M	0.75447	2.3	0.46521	D	0.999088	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	D	0.83925	0.0303	9	0.87932	D	0	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	22598;22723;22790;30022	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	29095;22598;22790;22723;22595	ENSP00000343764:S29095Y;ENSP00000434586:S22598Y;ENSP00000340554:S22790Y;ENSP00000352154:S22723Y	ENSP00000340554:S22790Y	S	-	2	0	TTN	179119316	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.545000	0.73883	2.657000	0.90304	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	184	547	0	119	0	1.593256e-01	1	2	0	119	2		0	0	0	0	0	2	1	1	181	536	0	118	2								-6.737663	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179412905	179412905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179412905G>A	ENST00000591111.1	-	289	88749	c.88525C>T	c.(88525-88527)Ctt>Ttt	p.L29509F	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L31150F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTCATTTCAAGCAGGTAGCCA	0.463000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.45	2.538536	0.45176	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.65	4.76	0.60689	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66723	0.2818	M	0.70595	2.14	0.38867	D	0.956614	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.51777	0.679;0.679;0.679;0.628	T	0.73830	-0.3859	9	0.87932	D	0	.	13.6656	0.62393	0.0:0.0:0.7186:0.2814	.	22085;22210;22277;29509	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	28582;22085;22277;22210;22082	ENSP00000343764:L28582F;ENSP00000434586:L22085F;ENSP00000340554:L22277F;ENSP00000352154:L22210F	ENSP00000340554:L22277F	L	-	1	0	TTN	179121151	1.000000	0.71417	0.926000	0.36857	0.991000	0.79684	2.820000	0.48057	1.354000	0.45846	-0.182000	0.12963	CTT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	284	843	0	173	0	0	0	1	0	173	2		0	0	0	0	0	2	1	1	278	826	0	173	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179414764	179414764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179414764C>A	ENST00000591111.1	-	287	87102	c.86878G>T	c.(86878-86880)Gcc>Tcc	p.A28960S	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30601S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GCATTTTTGGCTTCCACTGTG	0.383000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	25.2	4.611908	0.87258	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92299	0.7557	H	0.95539	3.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.93650	0.6972	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	21536;21661;21728;28960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28033;21536;21728;21661;21533	ENSP00000343764:A28033S;ENSP00000434586:A21536S;ENSP00000340554:A21728S;ENSP00000352154:A21661S	ENSP00000340554:A21728S	A	-	1	0	TTN	179123010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	12	436	1	66	0	0	0	1	1	66	2		0	0	0	0	0	2	0	6.394845e-02	12	422	1	65	21								-3.371940	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.360000	0.190000	1.000000	0.340000	0.419462	0.360000	0	2.600000e-01	5.100000e-01
TTN	7273	broad.mit.edu	37	2	179417271	179417271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179417271G>A	ENST00000591111.1	-	285	85657	c.85433C>T	c.(85432-85434)cCa>cTa	p.P28478L	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30119L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CACTGTAATTGGCCCAATAGT	0.438000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.32	3.088870	0.55968	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.06;-0.11;-0.09	5.76	5.76	0.90799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85239	0.5651	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	P;P;P;D	0.69307	0.905;0.905;0.905;0.963	D	0.86867	0.2033	9	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	21054;21179;21246;28478	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27551;21054;21246;21179;21051	ENSP00000343764:P27551L;ENSP00000434586:P21054L;ENSP00000340554:P21246L;ENSP00000352154:P21179L	ENSP00000340554:P21246L	P	-	2	0	TTN	179125517	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.956000	0.87863	2.882000	0.98803	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	32	171	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	33	166	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179418655	179418655	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418655G>A	ENST00000591111.1	-	283	84484	c.84260C>T	c.(84259-84261)gCt>gTt	p.A28087V	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29728V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGGATCAGCAGCTTTGTAGAA	0.398000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.8	4.673021	0.88445	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.61	5.61	0.85477	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70491	0.3230	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.71331	-0.4625	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20663;20788;20855;28087	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	27160;20663;20855;20788;20660	ENSP00000343764:A27160V;ENSP00000434586:A20663V;ENSP00000340554:A20855V;ENSP00000352154:A20788V	ENSP00000340554:A20855V	A	-	2	0	TTN	179126901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.793000	0.96121	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	41	191	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	40	187	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179418886	179418886	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418886G>T	ENST00000591111.1	-	283	84253	c.84029C>A	c.(84028-84030)aCt>aAt	p.T28010N	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T29651N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CCATACAACAGTCATCGAATT	0.418000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.1	4.105073	0.77096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78483	0.4290	M	0.78285	2.405	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.79907	-0.1605	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20586;20711;20778;28010	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	27083;20586;20778;20711;20583	ENSP00000343764:T27083N;ENSP00000434586:T20586N;ENSP00000340554:T20778N;ENSP00000352154:T20711N	ENSP00000340554:T20778N	T	-	2	0	TTN	179127132	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	4.842000	0.62831	2.793000	0.96121	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	20	684	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	9.999943e-01	19	674	0	119	2								-3.282568	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.370000	0.220000	1.000000	0.360000	0.430194	0.370000	0	2.900000e-01	4.900000e-01
TTN	7273	broad.mit.edu	37	2	179419371	179419371	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419371T>C	ENST00000591111.1	-	282	84004	c.83780A>G	c.(83779-83781)cAc>cGc	p.H27927R	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H29568R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CACAATGTAGTGAGTGATTTT	0.468000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	18.85	3.710933	0.68730	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64832	0.2634	L	0.37897	1.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.67848	-0.5564	9	0.87932	D	0	.	16.1819	0.81915	0.0:0.0:0.0:1.0	.	20503;20628;20695;27927	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	27000;20503;20695;20628;20500	ENSP00000343764:H27000R;ENSP00000434586:H20503R;ENSP00000340554:H20695R;ENSP00000352154:H20628R	ENSP00000340554:H20695R	H	-	2	0	TTN	179127617	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	CAC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	181	401	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	178	392	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179419672	179419672	+	Missense_Mutation	SNP	C	C	T	rs143193258	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419672C>T	ENST00000591111.1	-	281	83815	c.83591G>A	c.(83590-83592)cGc>cAc	p.R27864H	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29505H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ACTATTAAGGCGATCGGCATC	0.428000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.48	3.633142	0.67015	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65101	0.2659	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65389	-0.6180	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20440;20565;20632;27864	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	26937;20440;20632;20565;20437	ENSP00000343764:R26937H;ENSP00000434586:R20440H;ENSP00000340554:R20632H;ENSP00000352154:R20565H	ENSP00000340554:R20632H	R	-	2	0	TTN	179127918	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	46	167	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	46	165	0	32	2								-20.000000	1	1	120842	6	34	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179422791	179422791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179422791G>A	ENST00000591111.1	-	278	82591	c.82367C>T	c.(82366-82368)gCt>gTt	p.A27456V	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29097V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CAGGTTCTCAGCAGTAATTTC	0.433000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.7	4.329266	0.81690	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42921	0.1224	N	0.25332	0.735	0.53005	D	0.999964	P;P;P;D	0.53619	0.925;0.925;0.925;0.961	P;P;P;P	0.48270	0.572;0.572;0.572;0.572	T	0.40608	-0.9554	9	0.87932	D	0	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	20032;20157;20224;27456	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	26529;20032;20224;20157;20029	ENSP00000343764:A26529V;ENSP00000434586:A20032V;ENSP00000340554:A20224V;ENSP00000352154:A20157V	ENSP00000340554:A20224V	A	-	2	0	TTN	179131037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	156	464	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	153	459	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179425926	179425926	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179425926G>A	ENST00000591111.1	-	276	80234	c.80010C>T	c.(80008-80010)taC>taT	p.Y26670Y	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.Y28311Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTACTTCAAAGTATGTTTCTT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	64	276	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	63	268	0	48	2								-20.000000	1	1	120856	1	27	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179430078	179430078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430078G>A	ENST00000591111.1	-	276	76082	c.75858C>T	c.(75856-75858)aaC>aaT	p.N25286N	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.N26927N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN_ENST00000359218.5_Silent_p.N17987N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTTCTTCAACGTTTACTCTTG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	190	451	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	1	189	445	0	142	2								-20.000000	1	1	120816	1	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179430453	179430453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430453C>A	ENST00000591111.1	-	276	75707	c.75483G>T	c.(75481-75483)gaG>gaT	p.E25161D	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26802D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GTTCAGGTTTCTCCCACATAA	0.493000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.529	1.110340	0.20714	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.72	3.9	0.45041	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39279	0.1072	L	0.37850	1.14	0.40100	D	0.976354	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.31308	-0.9948	9	0.87932	D	0	.	5.4379	0.16492	0.1388:0.6031:0.0:0.2582	.	17737;17862;17929;25161	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	24234;17737;17929;17862;17735	ENSP00000343764:E24234D;ENSP00000434586:E17737D;ENSP00000340554:E17929D;ENSP00000352154:E17862D	ENSP00000340554:E17929D	E	-	3	2	TTN	179138699	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.217000	0.17603	0.747000	0.32809	0.484000	0.47621	GAG		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	285	693	0	168	0	8.520546e-02	0	2	0	168	2		0	0	0	0	0	2	1	1	277	682	0	168	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179433050	179433050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433050C>T	ENST00000591111.1	-	276	73110	c.72886G>A	c.(72886-72888)Gta>Ata	p.V24296I	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25937I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ACATCCCATACTGTGGTGGTT	0.393000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.41	1.341799	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.64	2.59	0.31030	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41926	0.1180	L	0.33485	1.01	0.25217	N	0.989934	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	T	0.42766	-0.9432	9	0.87932	D	0	.	10.9367	0.47249	0.0:0.6307:0.2998:0.0695	.	16872;16997;17064;24296	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23369;16872;17064;16997;16870	ENSP00000343764:V23369I;ENSP00000434586:V16872I;ENSP00000340554:V17064I;ENSP00000352154:V16997I	ENSP00000340554:V17064I	V	-	1	0	TTN	179141296	0.690000	0.27699	1.000000	0.80357	0.987000	0.75469	1.222000	0.32515	1.356000	0.45884	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	66	209	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	64	207	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179433683	179433683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433683C>T	ENST00000591111.1	-	276	72477	c.72253G>A	c.(72253-72255)Ggt>Agt	p.G24085S	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G25726S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTACTGCCACCATCATGTTCA	0.413000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.73	2.921098	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80099	0.4561	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83892	0.0285	9	0.87932	D	0	.	19.8963	0.96963	0.0:1.0:0.0:0.0	.	16661;16786;16853;24085	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23158;16661;16853;16786;16659	ENSP00000343764:G23158S;ENSP00000434586:G16661S;ENSP00000340554:G16853S;ENSP00000352154:G16786S	ENSP00000340554:G16853S	G	-	1	0	TTN	179141929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	118	693	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	1	115	678	0	156	2								-3.221898	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179433938	179433938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433938G>A	ENST00000591111.1	-	276	72222	c.71998C>T	c.(71998-72000)Cgt>Tgt	p.R24000C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25641C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GTGGCTTCACGTTTCTCAACA	0.378000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.60	1.986746	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.83	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78097	0.4230	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73380	0.98;0.98;0.98;0.98	T	0.82444	-0.0454	9	0.87932	D	0	.	16.8246	0.85927	0.0:0.1288:0.8712:0.0	.	16576;16701;16768;24000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	23073;16576;16768;16701;16574	ENSP00000343764:R23073C;ENSP00000434586:R16576C;ENSP00000340554:R16768C;ENSP00000352154:R16701C	ENSP00000340554:R16768C	R	-	1	0	TTN	179142184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.720000	0.74723	1.415000	0.47037	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	328	962	0	243		0	0	0	0	243	2		0	0	0	0	0	2	1	1	326	944	0	242	2								-9.069192	1	1	120798	2	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179434671	179434671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179434671G>T	ENST00000591111.1	-	276	71489	c.71265C>A	c.(71263-71265)taC>taA	p.Y23755*	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y25396*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AAGCCTTTTGGTAAGCAGAAG	0.433000																								0							SO:0001587	stop_gained			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	63	75.056652	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.03	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4014	0.16299	0.2655:0.0:0.6036:0.1309	.	.	.	.	X	22828;16331;16523;16456;16329	.	ENSP00000340554:Y16523X	Y	-	3	2	TTN	179142917	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.980000	0.49321	0.422000	0.26005	0.655000	0.94253	TAC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	46	244	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	42	240	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179442498C>T	ENST00000591111.1	-	273	63956	c.63732G>A	c.(63730-63732)tcG>tcA	p.S21244S	RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.S22885S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCCAAGACTTCGAAGGTAGAT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	99	234	0	62	0	0	1	0	0	62	2		0	0	0	0	0	2	1	1	99	231	0	62	2								-8.217628	1	1	120844	1	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179444459	179444459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179444459C>T	ENST00000591111.1	-	269	62766	c.62542G>A	c.(62542-62544)Gat>Aat	p.D20848N	RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22489N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GTCAGGAAATCAACTACATAT	0.413000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.41	2.826684	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.38	5.38	0.77491	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62344	0.2420	L	0.39898	1.24	0.54753	D	0.999988	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.56278	0.739;0.739;0.739;0.795	T	0.64575	-0.6375	9	0.87932	D	0	.	19.4705	0.94961	0.0:1.0:0.0:0.0	.	13424;13549;13616;20848	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19921;13424;13616;13549;13422	ENSP00000343764:D19921N;ENSP00000434586:D13424N;ENSP00000340554:D13616N;ENSP00000352154:D13549N	ENSP00000340554:D13616N	D	-	1	0	TTN	179152705	1.000000	0.71417	0.981000	0.43875	0.862000	0.49288	7.729000	0.84864	2.666000	0.90696	0.462000	0.41574	GAT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	47	370	0	80	1	1.450661e-01	2	4	0	80	2		0	0	0	0	0	2	1	1	47	363	0	80	2								-17.691190	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999669	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179446443	179446443	+	Silent	SNP	G	G	A	rs146502705	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179446443G>A	ENST00000591111.1	-	266	61853	c.61629C>T	c.(61627-61629)ggC>ggT	p.G20543G	TTN-AS1_ENST00000590743.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.G19616G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.G13119G|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.G22184G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.G13311G|TTN_ENST00000359218.5_Silent_p.G13244G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TAGGGCTGCCGCCGTCATAGG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	20	81	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999967e-01	20	77	0	17	2								-14.807250	1	0	120622	2	31	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179454805	179454805	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454805G>T	ENST00000591111.1	-	254	56948	c.56724C>A	c.(56722-56724)atC>atA	p.I18908I	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.I11484I|TTN_ENST00000589042.1_Silent_p.I20549I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN_ENST00000359218.5_Silent_p.I11609I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCTTAGCTGAGATGATATACT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	37	372	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	37	369	0	83	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.830000	1.000000	1.000000	0.985325	0.990000	1	9.800000e-01	1
TTN	7273	broad.mit.edu	37	2	179454840	179454840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454840C>A	ENST00000591111.1	-	254	56913	c.56689G>T	c.(56689-56691)Gaa>Taa	p.E18897*	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E20538*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTAACAGCTTCTTTAATTTGT	0.448000																								0							SO:0001587	stop_gained			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	61	54.036070	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5172	0.39113	0.1431:0.7861:0.0:0.0708	.	.	.	.	X	17970;11473;11665;11598;11471	.	ENSP00000340554:E11665X	E	-	1	0	TTN	179163086	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.784000	0.62411	2.844000	0.97970	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	155	338	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	155	332	0	95	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179455352	179455352	+	Missense_Mutation	SNP	C	C	T	rs141973925	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179455352C>T	ENST00000591111.1	-	254	56401	c.56177G>A	c.(56176-56178)cGg>cAg	p.R18726Q	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11302Q|TTN_ENST00000589042.1_Missense_Mutation_p.R20367Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494Q|TTN_ENST00000359218.5_Missense_Mutation_p.R11427Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTTGATGGGCCGGCAAGCTTT	0.433000																								0							SO:0001583	missense			ENST00000591111.1	1	0	hg19		3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	15.40	2.821552	0.50633	0.001326	0.004255	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	6.11	6.11	0.99139	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60818	0.2298	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.59101	-0.7517	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11302;11427;11494;18726	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17799;11302;11494;11427;11300	ENSP00000343764:R17799Q;ENSP00000434586:R11302Q;ENSP00000340554:R11494Q;ENSP00000352154:R11427Q	ENSP00000340554:R11494Q	R	-	2	0	TTN	179163598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.976000	0.70484	2.906000	0.99361	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	106	524	1	119		0	0	0	1	119	2		0	0	0	0	0	2	1	1	104	510	1	118	18								-3.121529	1	1	120840	461	60	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179456819	179456819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179456819C>T	ENST00000591111.1	-	252	55113	c.54889G>A	c.(54889-54891)Gct>Act	p.A18297T	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN_ENST00000589042.1_Missense_Mutation_p.A19938T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGATGCTTAGCGAAGTGACTC	0.473000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563683	0.45694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70046	0.3179	L	0.55017	1.72	0.58432	D	0.999994	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.67103	0.909;0.909;0.909;0.949	T	0.69734	-0.5065	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10873;10998;11065;18297	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17370;10873;11065;10998;10871	ENSP00000343764:A17370T;ENSP00000434586:A10873T;ENSP00000340554:A11065T;ENSP00000352154:A10998T	ENSP00000340554:A11065T	A	-	1	0	TTN	179165065	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.059000	0.57470	2.868000	0.98415	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	32	150	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	32	149	0	38	2								-20.000000	1	1	120790	1	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179457732	179457732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179457732C>T	ENST00000591111.1	-	250	54415	c.54191G>A	c.(54190-54192)cGt>cAt	p.R18064H	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN_ENST00000589042.1_Missense_Mutation_p.R19705H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ACCATCATGACGTGGTGGCTG	0.418000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.71	2.018629	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69824	0.3154	L	0.58428	1.81	0.50632	D	0.999883	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62491	0.903;0.903;0.903;0.903	T	0.69183	-0.5212	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10640;10765;10832;18064	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	17137;10640;10832;10765;10638	ENSP00000343764:R17137H;ENSP00000434586:R10640H;ENSP00000340554:R10832H;ENSP00000352154:R10765H	ENSP00000340554:R10832H	R	-	2	0	TTN	179165978	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	2.937000	0.99478	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	239	600	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	1	236	595	0	161	2								-20.000000	1	1	120856	3	40	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179458402	179458402	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458402G>A	ENST00000591111.1	-	248	53926	c.53702C>T	c.(53701-53703)tCt>tTt	p.S17901F	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN_ENST00000589042.1_Missense_Mutation_p.S19542F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AAGTAGTTTAGAAACTTTGCA	0.368000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.45	2.239923	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63651	0.2529	L	0.47078	1.49	0.39337	D	0.965512	B;B;B;B	0.30793	0.295;0.295;0.295;0.295	B;B;B;B	0.41299	0.22;0.22;0.353;0.353	T	0.63976	-0.6515	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	10477;10602;10669;17901	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16974;10477;10669;10602;10475	ENSP00000343764:S16974F;ENSP00000434586:S10477F;ENSP00000340554:S10669F;ENSP00000352154:S10602F	ENSP00000340554:S10669F	S	-	2	0	TTN	179166648	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.769000	0.98969	2.857000	0.98124	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	13	318	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.995021e-01	13	312	0	40	2								-13.769510	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.520000	0.280000	1.000000	0.490000	0.568559	0.520000	0	3.900000e-01	7.300000e-01
TTN	7273	broad.mit.edu	37	2	179458929	179458929	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458929C>T	ENST00000591111.1	-	247	53492	c.53268G>A	c.(53266-53268)acG>acA	p.T17756T	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T10332T|TTN_ENST00000589042.1_Silent_p.T19397T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN_ENST00000359218.5_Silent_p.T10457T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CAACTCGAATCGTGAGCTTAT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	53	253	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	52	250	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179462481	179462481	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462481T>A	ENST00000591111.1	-	244	52629	c.52405A>T	c.(52405-52407)Atc>Ttc	p.I17469F	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16542F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10045F|TTN_ENST00000589042.1_Missense_Mutation_p.I19110F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I10237F|TTN_ENST00000359218.5_Missense_Mutation_p.I10170F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATGATTCGGATCACCCCTCCA	0.453000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	18.04	3.535285	0.64972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62672	0.2447	L	0.57130	1.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.64639	-0.6360	9	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	10045;10170;10237;17469	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16542;10045;10237;10170;10043	ENSP00000343764:I16542F;ENSP00000434586:I10045F;ENSP00000340554:I10237F;ENSP00000352154:I10170F	ENSP00000340554:I10237F	I	-	1	0	TTN	179170726	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.980000	0.88113	2.326000	0.78906	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	51	250	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1	51	248	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179462653	179462653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462653C>T	ENST00000591111.1	-	243	52545	c.52321G>A	c.(52321-52323)Gaa>Aaa	p.E17441K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN_ENST00000589042.1_Missense_Mutation_p.E19082K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCCTTCATTTCAATGACATCT	0.373000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.12	3.307995	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.87	5.87	0.94306	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44371	0.1290	N	0.11313	0.125	0.58432	D	0.999994	D;D;D;D	0.58620	0.966;0.966;0.966;0.983	P;P;P;P	0.51016	0.505;0.505;0.505;0.656	T	0.51841	-0.8654	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	10017;10142;10209;17441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	16514;10017;10209;10142;10015	ENSP00000343764:E16514K;ENSP00000434586:E10017K;ENSP00000340554:E10209K;ENSP00000352154:E10142K	ENSP00000340554:E10209K	E	-	1	0	TTN	179170898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.904000	0.69886	2.941000	0.99782	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	83	405	0	92	0	0	1	0	0	92	2		0	0	0	0	0	2	1	1	82	396	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179463744	179463744	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179463744C>T	ENST00000591111.1	-	241	51994	c.51770G>A	c.(51769-51771)cGt>cAt	p.R17257H	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN_ENST00000589042.1_Missense_Mutation_p.R18898H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CATGGAGTTACGAGTCACGCT	0.418000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.34	1.908815	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41650	0.1168	L	0.27053	0.805	0.27011	N	0.964683	B;B;B;B	0.18863	0.031;0.031;0.031;0.031	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.32693	-0.9897	9	0.87932	D	0	.	10.7507	0.46207	0.0:0.8595:0.0:0.1405	.	9833;9958;10025;17257	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16330;9833;10025;9958;9831	ENSP00000343764:R16330H;ENSP00000434586:R9833H;ENSP00000340554:R10025H;ENSP00000352154:R9958H	ENSP00000340554:R10025H	R	-	2	0	TTN	179171989	0.955000	0.32602	1.000000	0.80357	0.996000	0.88848	1.826000	0.39092	2.843000	0.97960	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	28	253	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	27	251	0	32	2								-11.139490	1	1	120690	3	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.870000	1.000000	1.000000	0.992144	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	C	T	rs35647804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179465822C>T	ENST00000591111.1	-	238	51110	c.50886G>A	c.(50884-50886)ccG>ccA	p.P16962P	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN_ENST00000589042.1_Silent_p.P18603P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CATCATTCTTCGGGGGTTTCC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	81	385	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	1	81	379	0	75	2								-20.000000	1	1	120816	3	40	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179466617	179466617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179466617C>T	ENST00000591111.1	-	235	50595	c.50371G>A	c.(50371-50373)Gat>Aat	p.D16791N	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN_ENST00000589042.1_Missense_Mutation_p.D18432N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		aCCTGTGCATCTTCGGGTATG	0.308000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.16	1.557858	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69242	0.3089	M	0.63843	1.955	0.44247	D	0.997092	B;B;B;B	0.21606	0.026;0.026;0.026;0.058	B;B;B;B	0.24394	0.053;0.053;0.053;0.043	T	0.65290	-0.6204	9	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	9367;9492;9559;16791	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	15864;9367;9559;9492;9367	ENSP00000343764:D15864N;ENSP00000434586:D9367N;ENSP00000340554:D9559N;ENSP00000352154:D9492N	ENSP00000340554:D9559N	D	-	1	0	TTN	179174862	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.015000	0.57152	2.885000	0.99019	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	44	265	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	1	41	259	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179469867	179469867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179469867C>T	ENST00000591111.1	-	230	49338	c.49114G>A	c.(49114-49116)Gca>Aca	p.A16372T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN_ENST00000589042.1_Missense_Mutation_p.A18013T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATCTGAAGTGCATCAGTGGGT	0.478000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.40	2.226034	0.39300	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.74	4.86	0.63082	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29945	0.0749	N	0.13003	0.285	0.35599	D	0.807743	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.28459	-1.0043	9	0.87932	D	0	.	15.2041	0.73165	0.0:0.9315:0.0:0.0685	.	8948;9073;9140;16372	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15445;8948;9140;9073;8948	ENSP00000343764:A15445T;ENSP00000434586:A8948T;ENSP00000340554:A9140T;ENSP00000352154:A9073T	ENSP00000340554:A9140T	A	-	1	0	TTN	179178112	0.998000	0.40836	0.956000	0.39512	0.934000	0.57294	2.314000	0.43743	1.400000	0.46741	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	53	337	0	84	0	0	0	1	0	84	2		0	0	0	0	0	2	1	1	51	329	0	84	2								-19.999540	1	1	120796	11	41	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179474270	179474270	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474270C>A	ENST00000591111.1	-	223	47068	c.46844G>T	c.(46843-46845)aGc>aTc	p.S15615I	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN_ENST00000589042.1_Missense_Mutation_p.S17256I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CACTTCTAGGCTTGTTCTCAG	0.323000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.34	1.908248	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.85	4.93	0.64822	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52468	0.1736	L	0.61036	1.89	0.41827	D	0.99005	P;P;P;P	0.38677	0.642;0.642;0.642;0.642	P;P;P;P	0.48425	0.577;0.577;0.577;0.577	T	0.56147	-0.8027	9	0.87932	D	0	.	13.7731	0.63038	0.0:0.8119:0.1204:0.0677	.	8191;8316;8383;15615	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14688;8191;8383;8316;8191	ENSP00000343764:S14688I;ENSP00000434586:S8191I;ENSP00000340554:S8383I;ENSP00000352154:S8316I	ENSP00000340554:S8383I	S	-	2	0	TTN	179182515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.870000	0.56070	2.753000	0.94483	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	79	399	0	133	0	7.464998e-02	1	2	0	133	2		0	0	0	0	0	2	1	1	75	395	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179474468	179474468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474468C>T	ENST00000591111.1	-	222	46983	c.46759G>A	c.(46759-46761)Gcg>Acg	p.A15587T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN_ENST00000589042.1_Missense_Mutation_p.A17228T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTAATACCCGCGGCGTTCTCT	0.468000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.09	3.545804	0.65198	2.67E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76285	0.3966	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78091	-0.2339	9	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	8163;8288;8355;15587	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14660;8163;8355;8288;8163	ENSP00000343764:A14660T;ENSP00000434586:A8163T;ENSP00000340554:A8355T;ENSP00000352154:A8288T	ENSP00000340554:A8355T	A	-	1	0	TTN	179182713	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	312	951	0	232	1	2.572331e-01	2	2	0	232	2		0	0	0	0	0	2	1	1	308	932	0	229	2								-20.000000	1	0	120820	24	49	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179474553	179474553	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474553T>C	ENST00000591111.1	-	222	46898	c.46674A>G	c.(46672-46674)gaA>gaG	p.E15558E	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.E8134E|TTN_ENST00000589042.1_Silent_p.E17199E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN_ENST00000359218.5_Silent_p.E8259E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GTACCAGGTGTTCATTGCATC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	208	1997	0	408	0	9.006669e-03	0	2	0	408	2		0	0	0	0	0	2	1	1	209	1959	0	405	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179478614	179478614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179478614C>T	ENST00000591111.1	-	213	44697	c.44473G>A	c.(44473-44475)Gca>Aca	p.A14825T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN_ENST00000589042.1_Missense_Mutation_p.A16466T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGAGTCACTGCGTCTTTAGTG	0.428000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.86	2.660471	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.07	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35799	0.0944	N	0.11106	0.095	0.45502	D	0.998463	P;P;P;P	0.49862	0.929;0.929;0.929;0.929	B;B;B;B	0.42361	0.385;0.385;0.385;0.385	T	0.37220	-0.9715	9	0.87932	D	0	.	12.6162	0.56578	0.3127:0.6873:0.0:0.0	.	7401;7526;7593;14825	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13898;7401;7593;7526;7401	ENSP00000343764:A13898T;ENSP00000434586:A7401T;ENSP00000340554:A7593T;ENSP00000352154:A7526T	ENSP00000340554:A7593T	A	-	1	0	TTN	179186859	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.200000	0.42724	2.885000	0.99019	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	165	492	0	135	0	0	0	1	0	135	2		0	0	0	0	0	2	1	1	164	489	0	135	2								-20.000000	1	1	120888	2	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179481272	179481272	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481272A>C	ENST00000591111.1	-	207	43547	c.43323T>G	c.(43321-43323)gaT>gaG	p.D14441E	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN_ENST00000589042.1_Missense_Mutation_p.D16082E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GACTTCCTCCATCATCATCAG	0.423000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.31	1.601281	0.28534	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.91	4.75	0.60458	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69178	0.3082	M	0.86343	2.81	0.42975	D	0.99444	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.55011	0.766;0.766;0.766;0.766	T	0.75016	-0.3466	9	0.87932	D	0	.	11.6649	0.51368	0.9305:0.0:0.0695:0.0	.	7017;7142;7209;14441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13514;7017;7209;7142;7017	ENSP00000343764:D13514E;ENSP00000434586:D7017E;ENSP00000340554:D7209E;ENSP00000352154:D7142E	ENSP00000340554:D7209E	D	-	3	2	TTN	179189517	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.093000	0.50217	1.061000	0.40601	-0.256000	0.11100	GAT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	149	456	0	99	1	6.137280e-02	2	0	0	99	2		0	0	0	0	0	2	1	1	144	444	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179481716	179481716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481716G>A	ENST00000591111.1	-	206	43201	c.42977C>T	c.(42976-42978)gCa>gTa	p.A14326V	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN_ENST00000589042.1_Missense_Mutation_p.A15967V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATCTTTAAATGCACTTAAATC	0.408000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.12	1.842310	0.32513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.21;0.2;0.21	5.91	3.94	0.45596	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64405	0.2595	M	0.62723	1.935	0.37973	D	0.933336	B;B;B;P	0.35493	0.22;0.22;0.22;0.505	B;B;B;B	0.42319	0.119;0.119;0.207;0.383	T	0.72200	-0.4362	9	0.87932	D	0	.	12.2373	0.54522	0.0:0.0999:0.6366:0.2635	.	6902;7027;7094;14326	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13399;6902;7094;7027;6902	ENSP00000343764:A13399V;ENSP00000434586:A6902V;ENSP00000340554:A7094V;ENSP00000352154:A7027V	ENSP00000340554:A7094V	A	-	2	0	TTN	179189961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.597000	0.61062	1.483000	0.48342	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	103	550	0	145	0	2.533690e-02	1	1	0	145	2		0	0	0	0	0	2	1	1	103	538	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179485295	179485295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485295G>A	ENST00000591111.1	-	198	41254	c.41030C>T	c.(41029-41031)tCt>tTt	p.S13677F	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN_ENST00000589042.1_Missense_Mutation_p.S15318F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GAATGTGACAGATTTCTTCTC	0.358000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.45	2.240404	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55386	0.1917	M	0.65677	2.01	0.44221	D	0.997059	B;B;B;B	0.31274	0.171;0.317;0.317;0.171	B;B;B;B	0.36418	0.09;0.13;0.224;0.207	T	0.56709	-0.7934	9	0.87932	D	0	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	6253;6378;6445;13677	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	12750;6253;6445;6378;6253	ENSP00000343764:S12750F;ENSP00000434586:S6253F;ENSP00000340554:S6445F;ENSP00000352154:S6378F	ENSP00000340554:S6445F	S	-	2	0	TTN	179193540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.632000	0.67819	2.793000	0.96121	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	88	223	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	87	221	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179497134	179497134	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179497134C>A	ENST00000591111.1	-	186	38788	c.38564G>T	c.(38563-38565)cGg>cTg	p.R12855L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN_ENST00000589042.1_Missense_Mutation_p.R14496L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GAATTTGAGCCGGATTCCTAT	0.343000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.20	1.866084	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	6.1	6.1	0.99115	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86690	0.5993	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	D	0.86400	0.1741	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	5431;5556;5623;12855	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11928;5431;5623;5556;5431	ENSP00000343764:R11928L;ENSP00000434586:R5431L;ENSP00000340554:R5623L;ENSP00000352154:R5556L	ENSP00000340554:R5623L	R	-	2	0	TTN	179205379	1.000000	0.71417	0.978000	0.43139	0.408000	0.30992	7.768000	0.85345	2.902000	0.99343	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	20	55	0	14	0	1.859786e-01	0	3	0	14	2		0	0	0	0	0	2	1	9.999977e-01	19	53	0	14	2								-17.430550	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179500957	179500957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179500957G>A	ENST00000591111.1	-	176	36642	c.36418C>T	c.(36418-36420)Cgt>Tgt	p.R12140C	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN_ENST00000589042.1_Missense_Mutation_p.R13781C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN_ENST00000359218.5_Missense_Mutation_p.R4841C			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTTACAAAACGCACAGGAAGT	0.358000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.32	1.901701	0.33535	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.62	5.62	0.85841	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50514	0.1620	L	0.57536	1.79	0.50171	D	0.999854	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;P;P;P	0.47528	0.549;0.549;0.549;0.549	T	0.55477	-0.8135	9	0.87932	D	0	.	19.6536	0.95828	0.0:0.0:1.0:0.0	.	4716;4841;4908;12140	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	11213;4716;4908;4841;4716	ENSP00000343764:R11213C;ENSP00000434586:R4716C;ENSP00000340554:R4908C;ENSP00000352154:R4841C	ENSP00000340554:R4908C	R	-	1	0	TTN	179209202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.924000	0.70054	2.652000	0.90054	0.585000	0.79938	CGT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	20	63	0	15	0	6.320109e-02	0	2	0	15	2		0	0	0	0	0	2	1	9.999978e-01	20	61	0	15	2								-20.000000	1	1	120394	1	20	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179507020	179507020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179507020C>T	ENST00000591111.1	-	169	35803	c.35579G>A	c.(35578-35580)cGc>cAc	p.R11860H	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN_ENST00000589042.1_Missense_Mutation_p.R13501H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|TTN_ENST00000359218.5_Missense_Mutation_p.R4561H			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AAGTAATTTGCGAACTTTCTT	0.323000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.90	3.502075	0.64298	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.67345	-0.26;0.17;0.16;0.15	5.55	4.67	0.58626	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59307	0.2184	L	0.46157	1.445	0.36310	D	0.857617	B;B;B;B;B	0.31640	0.014;0.014;0.014;0.014;0.333	B;B;B;B;B	0.25506	0.005;0.005;0.005;0.005;0.061	T	0.67715	-0.5599	9	0.87932	D	0	.	14.1448	0.65344	0.0:0.928:0.0:0.072	.	4436;4561;4628;11860;10627	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	H	10933;4436;4628;4561;4436;822;160	ENSP00000343764:R10933H;ENSP00000434586:R4436H;ENSP00000340554:R4628H;ENSP00000352154:R4561H	ENSP00000340554:R4628H	R	-	2	0	TTN	179215265	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.528000	0.53524	1.344000	0.45657	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	6	45	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.681381e-01	6	45	0	11	2								-11.914440	1	1	120098	28	39	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.670000	1.000000	1.000000	0.974818	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179516866	179516866	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179516866C>T	ENST00000591111.1	-	159	34955	c.34731G>A	c.(34729-34731)gtG>gtA	p.V11577V	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V13084V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TAGCTTCAGGCACCTTCTTTT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	128	461	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	127	449	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GEN1	348654	broad.mit.edu	37	2	17954522	17954522	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17954522G>A	ENST00000381254.2	+	10	1241	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	GEN1_ENST00000317402.7_Missense_Mutation_p.V343M|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease			16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				GGATAAATTGGTGAAGGTTAT	0.274000								Homologous recombination																0							SO:0001583	missense			ENST00000381254.2	1	1	hg19	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476207	0.26511	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.42900	0.96;0.96;0.96	5.66	1.63	0.23807	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	1.197160	0.06327	N	0.705530	T	0.38348	0.1037	L	0.57536	1.79	0.09310	N	1	P	0.47106	0.89	B	0.42522	0.39	T	0.26121	-1.0112	10	0.44086	T	0.13	-0.1524	2.6399	0.04968	0.238:0.1369:0.5007:0.1244	.	343	Q17RS7	GEN_HUMAN	M	343;343;114	ENSP00000318977:V343M;ENSP00000370653:V343M;ENSP00000431542:V114M	ENSP00000318977:V343M	V	+	1	0	GEN1	17818003	0.134000	0.22483	0.131000	0.22000	0.868000	0.49771	0.403000	0.20982	0.264000	0.21851	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	1	0	1	12	83	0	22	1	3.432435e-01	3	6	0	22	2		0	0	0	0	0	2	1	9.993272e-01	12	83	0	21	2								-19.519740	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.910000	1.000000	1.000000	0.994505	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179547466G>A	ENST00000591111.1	-	133	32325	c.32101C>T	c.(32101-32103)Cgg>Tgg	p.R10701W	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11018W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	p.R9774W(1)		1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCATACTCCCGCTCCTCGTAT	0.358000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.966	0.748107	0.15710	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.70516	-0.49;-0.13	5.45	4.55	0.56014	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54615	0.1869	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	0.87932	D	0	.	11.0493	0.47878	0.1365:0.0:0.8635:0.0	.	10701;10437	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	W	9774;632	ENSP00000343764:R9774W;ENSP00000401501:R632W	ENSP00000343764:R9774W	R	-	1	2	TTN	179255711	0.009000	0.17119	0.011000	0.14972	0.004000	0.04260	1.371000	0.34250	2.725000	0.93324	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	209	716	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	204	701	0	153	2								-20.000000	1	1	120826	4	42	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179550287	179550287	+	Silent	SNP	G	G	A	rs72650029	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179550287G>A	ENST00000591111.1	-	126	31623	c.31399C>T	c.(31399-31401)Ctg>Ttg	p.L10467L	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L9540L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.L10784L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATAATGTGCAGCTTTTCTTCC	0.348000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	28	105	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	28	103	0	30	2								-2.645466	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179567333	179567333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179567333G>A	ENST00000591111.1	-	105	29554	c.29330C>T	c.(29329-29331)tCt>tTt	p.S9777F	TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S10094F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AAAGGTGGCAGACTGATGCTC	0.408000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.69	3.451783	0.63290	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88081	0.6341	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.89989	0.4106	9	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	9777	Q8WZ42	TITIN_HUMAN	F	8850	ENSP00000343764:S8850F	ENSP00000343764:S8850F	S	-	2	0	TTN	179275578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.704000	0.92352	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	14	487	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	9.996942e-01	14	470	0	80	2								-3.584689	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.370000	0.200000	1.000000	0.350000	0.430401	0.370000	0	2.800000e-01	5.200000e-01
TTN	7273	broad.mit.edu	37	2	179568946	179568946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179568946G>A	ENST00000591111.1	-	104	29424	c.29200C>T	c.(29200-29202)Cga>Tga	p.R9734*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R10051*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCTTCTGCTCGAACATCTGCA	0.423000																								0							SO:0001587	stop_gained			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	60	43.287529	0.99986	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.07	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0665	0.64834	0.0:0.0:0.7462:0.2538	.	.	.	.	X	8807	.	ENSP00000343764:R8807X	R	-	1	2	TTN	179277191	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	5.542000	0.67218	2.885000	0.99019	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	193	512	0	137		0	0	0	0	137	2		0	0	0	0	0	2	1	1	189	503	0	135	2								-9.280140	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179569378	179569378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179569378G>T	ENST00000591111.1	-	103	29094	c.28870C>A	c.(28870-28872)Ctg>Atg	p.L9624M	TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L9941M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTGGGTTCCAGTTTTTCAGTT	0.343000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.96	1.497968	0.26861	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.93	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82282	0.5003	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83671	0.0166	9	0.87932	D	0	.	9.1462	0.36935	0.2633:0.0:0.7367:0.0	.	9624	Q8WZ42	TITIN_HUMAN	M	8697	ENSP00000343764:L8697M	ENSP00000343764:L8697M	L	-	1	2	TTN	179277623	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.691000	0.54720	1.529000	0.49120	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	8	99	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	9.881633e-01	8	94	0	14	2								-12.752480	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.470000	1.000000	1.000000	0.890012	0.990000	1	7.000000e-01	1
TTN	7273	broad.mit.edu	37	2	179575601	179575601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179575601G>T	ENST00000591111.1	-	96	27496	c.27272C>A	c.(27271-27273)gCt>gAt	p.A9091D	TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9408D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	p.A8164V(1)		1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCCCACCACAGCATCCACAGG	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.24	2.176958	0.38413	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.06	4.24	0.50183	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74928	0.3781	M	0.86268	2.805	0.80722	D	1	P	0.51933	0.949	P	0.52386	0.697	T	0.78006	-0.2373	9	0.87932	D	0	.	7.2784	0.26297	0.2053:0.1317:0.663:0.0	.	9091	Q8WZ42	TITIN_HUMAN	D	8164	ENSP00000343764:A8164D	ENSP00000343764:A8164D	A	-	2	0	TTN	179283846	0.982000	0.34865	0.997000	0.53966	0.980000	0.70556	2.270000	0.43355	1.565000	0.49641	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	60	384	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	1	60	375	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179577471	179577471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179577471C>T	ENST00000591111.1	-	92	26554	c.26330G>A	c.(26329-26331)aGc>aAc	p.S8777N	TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9094N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGCTTCATTGCTAACTATGCA	0.393000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.939	1.217070	0.22373	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.48	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73087	0.3542	M	0.81802	2.56	0.09310	N	0.999999	B	0.25048	0.117	B	0.33196	0.159	T	0.69331	-0.5173	9	0.87932	D	0	.	17.1553	0.86790	0.0:0.5105:0.4895:0.0	.	8777	Q8WZ42	TITIN_HUMAN	N	7850	ENSP00000343764:S7850N	ENSP00000343764:S7850N	S	-	2	0	TTN	179285716	0.000000	0.05858	0.387000	0.26183	0.986000	0.74619	0.215000	0.17562	0.746000	0.32786	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	53	280	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	53	275	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179584922	179584922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179584922G>A	ENST00000591111.1	-	79	22720	c.22496C>T	c.(22495-22497)gCc>gTc	p.A7499V	TTN_ENST00000342992.6_Missense_Mutation_p.A6572V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7816V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTCCACTATGGCCCGTAACTC	0.428000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.240	0.601000	0.13939	.	.	ENSG00000155657	ENST00000342992	T	0.39056	1.1	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52821	0.1758	L	0.43923	1.385	0.80722	D	1	D	0.69078	0.997	P	0.54346	0.749	T	0.53450	-0.8437	9	0.87932	D	0	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	7499	Q8WZ42	TITIN_HUMAN	V	6572	ENSP00000343764:A6572V	ENSP00000343764:A6572V	A	-	2	0	TTN	179293167	0.198000	0.23374	0.585000	0.28666	0.075000	0.17131	2.688000	0.46984	2.721000	0.93114	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	79	226	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	76	219	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179589098	179589098	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179589098T>C	ENST00000591111.1	-	70	20277	c.20053A>G	c.(20053-20055)Atc>Gtc	p.I6685V	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I7002V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AAGGAAGAGATTTTGTTGTAG	0.443000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.39	1.625350	0.28889	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.02	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38719	0.1051	N	0.02665	-0.54	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14643	-1.0465	9	0.87932	D	0	.	7.861	0.29509	0.0:0.6856:0.0:0.3144	.	6685	Q8WZ42	TITIN_HUMAN	V	5758	ENSP00000343764:I5758V	ENSP00000343764:I5758V	I	-	1	0	TTN	179297343	0.965000	0.33210	1.000000	0.80357	0.993000	0.82548	0.739000	0.26173	0.192000	0.20272	-0.274000	0.10170	ATC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	60	281	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	1	56	276	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GEN1	348654	broad.mit.edu	37	2	17959282	17959282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17959282C>T	ENST00000381254.2	+	12	1430	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease			16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				TGTTAAGACTCGAATCAGAAA	0.269000								Homologous recombination																0							SO:0001587	stop_gained			ENST00000381254.2	0	1	hg19	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	38	6.665361	0.97747	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	.	.	.	5.21	3.34	0.38264	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2737	12.8916	0.58073	0.4272:0.5728:0.0:0.0	.	.	.	.	X	406;406;177;43	.	ENSP00000318977:R406X	R	+	1	2	GEN1	17822763	0.979000	0.34478	0.687000	0.30102	0.853000	0.48598	2.467000	0.45093	0.637000	0.30526	-0.181000	0.13052	CGA		TCGA-IB-7651-01A-11D-2154-08	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	1	0	1	69	263	0	77	0	3.679959e-01	1	5	0	77	2		0	0	0	0	0	2	1	1	69	260	0	75	2								-3.542534	1	1	121334	1	32	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179593619	179593619	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179593619T>G	ENST00000591111.1	-	63	18419	c.18195A>C	c.(18193-18195)caA>caC	p.Q6065H	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.Q5138H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Splice_Site_p.Q6382H|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTTACAAACCTTGTACTAAAA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000591111.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	T	12.02	1.811439	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.41758	0.99	5.63	5.63	0.86233	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55752	0.1940	L	0.43757	1.38	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.58364	-0.7649	9	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	6065	Q8WZ42	TITIN_HUMAN	H	5138	ENSP00000343764:Q5138H	ENSP00000343764:Q5138H	Q	-	3	2	TTN	179301864	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	CAA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	60	148	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	59	145	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179598068	179598068	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598068G>T	ENST00000591111.1	-	52	15225	c.15001C>A	c.(15001-15003)Ctc>Atc	p.L5001I	TTN_ENST00000342992.6_Missense_Mutation_p.L4074I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L5318I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TAAAATTTGAGCTGGGCAACA	0.448000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.22	1.872505	0.33069	.	.	ENSG00000155657	ENST00000342992	T	0.72167	-0.63	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85927	0.5811	M	0.92317	3.295	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	D	0.88744	0.3245	9	0.87932	D	0	.	14.3531	0.66716	0.0704:0.0:0.9296:0.0	.	5001	Q8WZ42	TITIN_HUMAN	I	4074	ENSP00000343764:L4074I	ENSP00000343764:L4074I	L	-	1	0	TTN	179306313	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	2.844000	0.48246	2.765000	0.95021	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	76	420	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	74	415	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179598373	179598373	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598373C>T	ENST00000591111.1	-	51	15016	c.14792G>A	c.(14791-14793)aGc>aAc	p.S4931N	TTN_ENST00000342992.6_Missense_Mutation_p.S4004N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S5248N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGATGTTTGGCTTCCAGCTTC	0.363000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.84	2.057724	0.36277	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71333	0.3327	L	0.53561	1.675	0.80722	D	1	D	0.53312	0.959	P	0.47603	0.551	T	0.73914	-0.3832	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	4931	Q8WZ42	TITIN_HUMAN	N	4004	ENSP00000343764:S4004N	ENSP00000343764:S4004N	S	-	2	0	TTN	179306618	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.024000	0.49674	2.836000	0.97738	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	159	438	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	155	426	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179598615	179598615	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598615A>G	ENST00000591111.1	-	51	14774	c.14550T>C	c.(14548-14550)ccT>ccC	p.P4850P	TTN_ENST00000342992.6_Silent_p.P3923P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.P5167P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CAAAGGTTGGAGGTTCTAGTT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	73	194	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	72	187	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179604158	179604158	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179604158A>G	ENST00000591111.1	-	46	13075	c.12851T>C	c.(12850-12852)aTc>aCc	p.I4284T	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN_ENST00000589042.1_Missense_Mutation_p.I4601T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T|TTN_ENST00000359218.5_Missense_Mutation_p.I4363T			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATCCTCTTTGATTAAGCCACC	0.438000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	0.990	-0.694352	0.03303	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61274	0.16;0.13;0.12	5.65	-2.18	0.07037	.	.	.	.	.	T	0.24736	0.0600	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.15292	-1.0442	9	0.87932	D	0	.	2.8061	0.05428	0.2567:0.2422:0.392:0.1091	.	4238;4363;4430	D3DPF9;E7EQE6;E7ET18	.;.;.	T	4238;4430;4363;4238	ENSP00000434586:I4238T;ENSP00000340554:I4430T;ENSP00000352154:I4363T	ENSP00000340554:I4430T	I	-	2	0	TTN	179312403	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.167000	0.09940	-0.296000	0.08947	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	9	380	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	9.937819e-01	9	372	0	63	2								-9.121766	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.310000	0.150000	1.000000	0.290000	0.381215	0.310000	0	2.200000e-01	4.700000e-01
TTN	7273	broad.mit.edu	37	2	179606156	179606156	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179606156G>T	ENST00000591111.1	-	46	11077	c.10853C>A	c.(10852-10854)cCt>cAt	p.P3618H	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN_ENST00000589042.1_Missense_Mutation_p.P3935H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H|TTN_ENST00000359218.5_Missense_Mutation_p.P3697H			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGGAGGACAAGGACCTCCCAG	0.458000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.504	1.103928	0.20632	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61742	0.15;0.09;0.08	5.87	5.87	0.94306	.	.	.	.	.	T	0.53562	0.1804	L	0.49126	1.545	0.27352	N	0.956201	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.49862	-0.8894	9	0.87932	D	0	.	12.6639	0.56830	0.0764:0.0:0.9236:0.0	.	3572;3697;3764	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3572;3764;3697;3572	ENSP00000434586:P3572H;ENSP00000340554:P3764H;ENSP00000352154:P3697H	ENSP00000340554:P3764H	P	-	2	0	TTN	179314401	1.000000	0.71417	0.995000	0.50966	0.441000	0.31987	4.209000	0.58493	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	126	720	0	174		0	0	0	0	174	2		0	0	0	0	0	2	1	1	126	705	0	174	2								-3.221914	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYT1L	23040	broad.mit.edu	37	2	1796203	1796203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1796203C>T	ENST00000399161.2	-	24	4057	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	MYT1L_ENST00000407844.1_Missense_Mutation_p.E102K|MYT1L_ENST00000428368.2_Missense_Mutation_p.E1102K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like			97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)			TTCTCCTCTTCGATGGTCTTC	0.552000																								0							SO:0001583	missense			ENST00000399161.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.553889	0.96501	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.56611	0.45;1.98;0.45	5.5	5.5	0.81552	.	0.044994	0.85682	D	0.000000	T	0.68952	0.3057	M	0.72894	2.215	0.80722	D	1	D;D;D	0.71674	0.972;0.997;0.998	B;P;P	0.57548	0.367;0.67;0.823	T	0.70828	-0.4766	10	0.54805	T	0.06	-36.3414	19.3812	0.94536	0.0:1.0:0.0:0.0	.	102;1104;1102	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	K	1104;1050;102;158;1102	ENSP00000382114:E1104K;ENSP00000382111:E158K;ENSP00000396103:E1102K	ENSP00000295067:E1050K	E	-	1	0	MYT1L	1775210	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.977000	0.70492	2.572000	0.86782	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	0	0	0	5	128	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.362573e-01	5	126	0	25	2								-3.808946	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.510000	0.200000	1.000000	1.000000	0.548538	0.510000	0	3.300000e-01	7.600000e-01
TTN	7273	broad.mit.edu	37	2	179631200	179631200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179631200C>T	ENST00000591111.1	-	41	9835	c.9611G>A	c.(9610-9612)cGa>cAa	p.R3204Q	TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN_ENST00000589042.1_Missense_Mutation_p.R3204Q|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GATAAACATTCGGTGGATTCT	0.418000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419283	0.62622	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77512	0.4141	L	0.58810	1.83	0.26641	N	0.972283	D;D;D;D;D	0.76494	0.997;0.997;0.997;0.997;0.999	P;P;P;P;D	0.63793	0.778;0.778;0.778;0.778;0.918	T	0.70799	-0.4774	9	0.87932	D	0	.	13.7635	0.62981	0.0:0.9263:0.0:0.0737	.	3158;3158;3158;3204;3204	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	3204;3158;3158;3158;3158;3204	ENSP00000343764:R3204Q;ENSP00000434586:R3158Q;ENSP00000340554:R3158Q;ENSP00000352154:R3158Q;ENSP00000354117:R3204Q	ENSP00000340554:R3158Q	R	-	2	0	TTN	179339445	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.659000	0.61504	2.625000	0.88918	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	91	506	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	91	497	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179636087	179636087	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179636087C>T	ENST00000591111.1	-	34	8191	c.7967G>A	c.(7966-7968)gGc>gAc	p.G2656D	TTN_ENST00000360870.5_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN_ENST00000589042.1_Missense_Mutation_p.G2656D|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D|TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TAGGTGTTTGCCATCCCTCAA	0.458000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043155	0.55003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	6.17	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19525	0.0469	M	0.80183	2.485	0.41668	D	0.989228	B;B;B;B;P	0.37573	0.315;0.315;0.315;0.315;0.6	B;B;B;B;B	0.42319	0.214;0.214;0.214;0.214;0.383	T	0.01356	-1.1376	9	0.87932	D	0	.	15.8705	0.79117	0.0:0.9354:0.0:0.0646	.	2610;2610;2610;2656;2656	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2656;2610;2610;2610;2610;2656	ENSP00000343764:G2656D;ENSP00000434586:G2610D;ENSP00000340554:G2610D;ENSP00000352154:G2610D;ENSP00000354117:G2656D	ENSP00000340554:G2610D	G	-	2	0	TTN	179344332	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.087000	0.71362	1.631000	0.50456	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	8	339	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.889350e-01	8	334	0	40	2								-3.064543	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.320000	0.140000	1.000000	0.290000	0.383332	0.320000	0	2.100000e-01	4.800000e-01
TTN	7273	broad.mit.edu	37	2	179638990	179638990	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179638990C>A	ENST00000591111.1	-	30	7225	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN_ENST00000589042.1_Missense_Mutation_p.G2334V|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GCTGTATTCTCCCTGGTCCTC	0.438000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.49	2.551960	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91375	0.7279	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92903	0.6341	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334V;ENSP00000434586:G2288V;ENSP00000340554:G2288V;ENSP00000352154:G2288V;ENSP00000354117:G2334V	ENSP00000340554:G2288V	G	-	2	0	TTN	179347235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	134	429	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	134	423	0	77	2								-4.923758	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179640548	179640548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179640548C>T	ENST00000591111.1	-	28	6267	c.6043G>A	c.(6043-6045)Gct>Act	p.A2015T	TTN_ENST00000360870.5_Missense_Mutation_p.A2015T|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN_ENST00000589042.1_Missense_Mutation_p.A2015T|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGCTCCACAGCGGTAATGGCT	0.453000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.34	1.907980	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.15;0.13;0.12;0.29	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.71676	0.3368	L	0.32530	0.975	0.33807	D	0.627368	D;D;D;D;D	0.89917	0.994;0.994;0.994;0.994;1.0	P;P;P;P;D	0.71414	0.603;0.603;0.603;0.603;0.973	T	0.79699	-0.1694	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1969;1969;1969;2015;2015	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2015;1969;1969;1969;1969;2015	ENSP00000343764:A2015T;ENSP00000434586:A1969T;ENSP00000340554:A1969T;ENSP00000352154:A1969T;ENSP00000354117:A2015T	ENSP00000340554:A1969T	A	-	1	0	TTN	179348793	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	5.837000	0.69381	2.387000	0.81309	0.609000	0.83330	GCT		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	152	774	0	147	0	0	0	1	0	147	2		0	0	0	0	0	2	1	1	148	762	0	147	2								-20.000000	1	1	121410	1	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179647028	179647028	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647028C>A	ENST00000591111.1	-	20	3515	c.3291G>T	c.(3289-3291)ggG>ggT	p.G1097G	TTN_ENST00000360870.5_Silent_p.G1097G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.G1097G|TTN_ENST00000460472.2_Silent_p.G1051G|TTN_ENST00000589042.1_Silent_p.G1097G|TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000359218.5_Silent_p.G1051G			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ACACCACGCTCCCACCTTCCA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	71	330	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	69	329	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179647624	179647624	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647624G>T	ENST00000591111.1	-	18	3233	c.3009C>A	c.(3007-3009)cgC>cgA	p.R1003R	TTN_ENST00000360870.5_Silent_p.R1003R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.R1003R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000589042.1_Silent_p.R1003R|TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000359218.5_Silent_p.R957R			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CAAATGCTTCGCGAATCATAA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	26	370	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.999999e-01	25	367	0	70	2								-7.129032	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.850000	0.560000	1.000000	1.000000	0.849131	0.850000	1	6.900000e-01	1
TTN	7273	broad.mit.edu	37	2	179654143	179654143	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179654143T>C	ENST00000591111.1	-	13	2244	c.2020A>G	c.(2020-2022)Aga>Gga	p.R674G	TTN_ENST00000360870.5_Missense_Mutation_p.R674G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000589042.1_Missense_Mutation_p.R674G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000359218.5_Missense_Mutation_p.R628G			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCTCTAGTTCTCAGTATTGTT	0.368000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.20	1.866839	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.9	5.9	0.94986	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45438	0.1342	L	0.58810	1.83	0.23657	N	0.997182	B;B;B;B;B	0.21606	0.001;0.001;0.001;0.001;0.058	B;B;B;B;B	0.18561	0.007;0.007;0.007;0.007;0.022	T	0.44251	-0.9340	9	0.87932	D	0	.	10.0642	0.42292	0.0:0.0751:0.0:0.9249	.	628;628;628;674;674	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	674;628;628;628;628;674;178	ENSP00000343764:R674G;ENSP00000434586:R628G;ENSP00000340554:R628G;ENSP00000352154:R628G;ENSP00000354117:R674G;ENSP00000405517:R178G	ENSP00000340554:R628G	R	-	1	2	TTN	179362388	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	2.431000	0.44775	2.266000	0.75297	0.528000	0.53228	AGA		TCGA-IB-7651-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	79	440	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	78	433	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC141	285025	broad.mit.edu	37	2	179701780	179701780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701780C>T	ENST00000420890.2	-	23	4283	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141			78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		AATCTCTTCTCGAGGAACCAT	0.498000																								0							SO:0001583	missense			ENST00000420890.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	7.640	0.680651	0.14907	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.46063	0.88;1.54;1.54	6.17	-12.3	0.00002	.	1.416120	0.04518	N	0.384078	T	0.18759	0.0450	N	0.13235	0.315	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.002	T	0.29579	-1.0007	10	0.02654	T	1	5.3443	13.1713	0.59599	0.0:0.6227:0.1503:0.227	.	814;814	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	Q	1389;833;814	ENSP00000395995:R1389Q;ENSP00000344627:R833Q;ENSP00000295723:R814Q	ENSP00000295723:R814Q	R	-	2	0	CCDC141	179410025	0.001000	0.12720	0.001000	0.08648	0.189000	0.23516	-2.550000	0.00929	-2.824000	0.00342	-0.982000	0.02568	CGA		TCGA-IB-7651-01A-11D-2154-08	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	57	166	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	1	56	162	0	39	2								-5.035518	1	0	121398	2	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC141	285025	broad.mit.edu	37	2	179701839	179701839	+	Silent	SNP	G	G	A	rs13031147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701839G>A	ENST00000420890.2	-	23	4224	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F794F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141			78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		TGAGGCCCGAGAATGCATCAG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000420890.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	56	153	0	33	0	1.807768e-01	0	3	0	33	2		0	0	0	0	0	2	1	1	56	150	0	33	2								-20.000000	1	0	121390	1	27	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC141	285025	broad.mit.edu	37	2	179714776	179714776	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179714776C>T	ENST00000420890.2	-	21	3474	c.3357G>A	c.(3355-3357)aaG>aaA	p.K1119K	CCDC141_ENST00000295723.5_Splice_Site_p.K544K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141			78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		AAGAAATTACCTTCAGTTTTT	0.313000																								0							SO:0001630	splice_region_variant			ENST00000420890.2	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	53	283	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	1	53	280	0	35	2								-2.853399	1	1	121406	1	29	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC141	285025	broad.mit.edu	37	2	179720079	179720079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179720079C>T	ENST00000420890.2	-	19	3172	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141			78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		AATACCTCTTCTATCACCTCC	0.353000																								0							SO:0001583	missense			ENST00000420890.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.9	4.470620	0.84533	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.36520	1.25;1.25;1.25	5.09	5.09	0.68999	.	0.000000	0.52532	D	0.000061	T	0.44414	0.1292	L	0.34521	1.04	0.35372	D	0.789158	D	0.65815	0.995	P	0.60173	0.87	T	0.52487	-0.8569	10	0.42905	T	0.14	-26.2853	14.1615	0.65450	0.0:0.9256:0.0:0.0744	.	444	Q6ZP82	CC141_HUMAN	K	1019;463;444	ENSP00000395995:E1019K;ENSP00000344627:E463K;ENSP00000295723:E444K	ENSP00000295723:E444K	E	-	1	0	CCDC141	179428324	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	3.896000	0.56266	2.518000	0.84900	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	39	315	0	67	0	3.568435e-02	0	3	0	67	2		0	0	0	0	0	2	1	1	38	312	0	66	2								-3.318795	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999030	0.990000	1	9.900000e-01	1
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179730620C>A	ENST00000420890.2	-	17	2715	c.2598G>T	c.(2596-2598)aaG>aaT	p.K866N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141			78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		GCTGTAGGTTCTTTGCAGAAA	0.478000																								0							SO:0001583	missense			ENST00000420890.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.0	4.078922	0.76528	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.50277	0.75;1.34;1.34;1.3	6.07	5.19	0.71726	.	0.095181	0.45361	D	0.000364	T	0.56558	0.1993	L	0.34521	1.04	0.31795	N	0.629176	D	0.76494	0.999	D	0.68192	0.956	T	0.62690	-0.6801	10	0.36615	T	0.2	-13.9934	15.2563	0.73588	0.0:0.933:0.0:0.067	.	291	Q6ZP82	CC141_HUMAN	N	866;310;291;866	ENSP00000395995:K866N;ENSP00000344627:K310N;ENSP00000295723:K291N;ENSP00000390190:K866N	ENSP00000295723:K291N	K	-	3	2	CCDC141	179438865	1.000000	0.71417	0.953000	0.39169	0.600000	0.36913	2.727000	0.47311	1.572000	0.49736	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	177	856	0	195	0	0	0	1	0	195	2		0	0	0	0	0	2	1	1	169	841	0	191	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC141	285025	broad.mit.edu	37	2	179736940	179736940	+	Missense_Mutation	SNP	G	G	A	rs146458136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179736940G>A	ENST00000420890.2	-	13	2116	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141			78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		CATGCCAGCCGAAGGAGGCTA	0.468000																								0							SO:0001583	missense			ENST00000420890.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.21	2.170634	0.38315	6.81E-4	0.0	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.44482	0.92;1.53;1.53;1.53	5.51	2.32	0.28847	.	0.306192	0.23682	N	0.045611	T	0.21267	0.0512	N	0.14661	0.345	0.26784	N	0.969549	B	0.20459	0.045	B	0.15052	0.012	T	0.10590	-1.0623	10	0.33141	T	0.24	-3.0752	5.5109	0.16880	0.3894:0.0:0.6106:0.0	.	92	Q6ZP82	CC141_HUMAN	W	667;111;92;667;602	ENSP00000395995:R667W;ENSP00000344627:R111W;ENSP00000295723:R92W;ENSP00000390190:R667W	ENSP00000295723:R92W	R	-	1	2	CCDC141	179445185	0.574000	0.26684	0.278000	0.24718	0.823000	0.46562	0.882000	0.28186	0.684000	0.31448	-0.259000	0.10710	CGG		TCGA-IB-7651-01A-11D-2154-08	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	71	367	0	59	0	2.708720e-02	0	2	0	59	2		0	0	0	0	0	2	1	1	71	359	0	59	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSGN1	343930	broad.mit.edu	37	2	17998000	17998000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998000G>T	ENST00000281047.3	+	1	238	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1			11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				TGTGAGCACGGCGGGGCCAGC	0.622000													Melanoma(127;325 1712 14802 40657 49130)											0							SO:0001583	missense			ENST00000281047.3	1	1	hg19	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266048	0.10294	.	.	ENSG00000151379	ENST00000281047	T	0.16196	2.36	5.25	2.36	0.29203	.	0.451160	0.23656	N	0.045876	T	0.14184	0.0343	L	0.43152	1.355	0.18873	N	0.999986	B	0.29085	0.232	B	0.32533	0.147	T	0.22765	-1.0207	10	0.26408	T	0.33	-4.4513	8.327	0.32162	0.2753:0.0:0.7247:0.0	.	72	A6NI15	MSGN1_HUMAN	V	72	ENSP00000281047:G72V	ENSP00000281047:G72V	G	+	2	0	MSGN1	17861481	0.002000	0.14202	0.000000	0.03702	0.058000	0.15608	1.157000	0.31724	0.316000	0.23135	-0.345000	0.07892	GGC		TCGA-IB-7651-01A-11D-2154-08	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	1	0	1	94	484	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	91	439	0	59	2								-2.807310	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSGN1	343930	broad.mit.edu	37	2	17998323	17998323	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998323G>T	ENST00000281047.3	+	1	561	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1			11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				GGAACTCACAGACCTCCTTAA	0.582000													Melanoma(127;325 1712 14802 40657 49130)											0							SO:0001583	missense			ENST00000281047.3	1	1	hg19	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958390	0.74016	.	.	ENSG00000151379	ENST00000281047	D	0.97710	-4.5	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (3);	0.147023	0.64402	D	0.000012	D	0.96694	0.8921	N	0.19112	0.55	0.53688	D	0.999972	D	0.76494	0.999	P	0.60789	0.879	D	0.96618	0.9457	10	0.66056	D	0.02	-9.2098	13.6054	0.62044	0.0706:0.0:0.9294:0.0	.	180	A6NI15	MSGN1_HUMAN	Y	180	ENSP00000281047:D180Y	ENSP00000281047:D180Y	D	+	1	0	MSGN1	17861804	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.344000	0.72991	2.837000	0.97791	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	1	0	1	48	276	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	47	273	0	61	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF385B	151126	broad.mit.edu	37	2	180307983	180307983	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180307983C>T	ENST00000410066.1	-	10	2013	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000409343.1_Silent_p.P394P|ZNF385B_ENST00000336917.5_Silent_p.P368P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	p.P470P(1)		26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		GACGTTAGTACGGAGCAAAGA	0.552000													Colon(155;204 2491 32774 51842)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000410066.1	1	1	hg19	CCDS33339.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	1	0	1	68	195	0	36	0	4.891939e-01	0	6	0	36	2		0	0	0	0	0	2	1	1	68	191	0	35	2								-5.104588	1	0	121408	14	40	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF385B	151126	broad.mit.edu	37	2	180308082	180308082	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180308082G>T	ENST00000410066.1	-	10	1914	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000409343.1_Silent_p.P361P|ZNF385B_ENST00000336917.5_Silent_p.P335P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B			26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		GCGAGGCAGAGGGCCGGGGTG	0.642000													Colon(155;204 2491 32774 51842)											0							SO:0001819	synonymous_variant			ENST00000410066.1	1	1	hg19	CCDS33339.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	1	0	1	24	154	0	27	0	0	0	1	0	27	2		0	0	0	0	0	2	1	9.999998e-01	24	150	0	26	2								-12.973820	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999685	0.990000	1	9.900000e-01	1
ZNF385B	151126	broad.mit.edu	37	2	180310425	180310425	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180310425C>T	ENST00000410066.1	-	8	1550	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H|ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B			26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		AGCCCCATTACGAGCTTCAAC	0.378000													Colon(155;204 2491 32774 51842)											0							SO:0001583	missense			ENST00000410066.1	1	1	hg19	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464584	0.96257	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.95	5.95	0.96441	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.57312	-0.7833	10	0.44086	T	0.13	-8.0555	20.3748	0.98911	0.0:1.0:0.0:0.0	.	316;240	Q569K4;Q569K4-2	Z385B_HUMAN;.	H	316;214;240;214;214	ENSP00000386845:R316H;ENSP00000338225:R214H;ENSP00000386379:R240H;ENSP00000386507:R214H;ENSP00000394038:R214H	ENSP00000338225:R214H	R	-	2	0	ZNF385B	180018670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	1	0	1	54	331	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	1	52	322	0	70	2								-19.999930	1	1	121412	1	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CWC22	57703	broad.mit.edu	37	2	180815412	180815412	+	Missense_Mutation	SNP	G	G	A	rs17778270	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180815412G>A	ENST00000410053.3	-	19	2266	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	CWC22_ENST00000295749.6_Missense_Mutation_p.A656V	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein			30					TGGTTTCTGCGCCACAATGAC	0.408000																								0							SO:0001583	missense			ENST00000410053.3	1	0	hg19	CCDS46465.1	31	0.014194139194139194	0	0.0	7	0.019337016574585635	0	0.0	24	0.0316622691292876	G	18.43	3.621466	0.66787	0.005023	0.032254	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.26223	1.75;1.75;1.84	6.16	5.29	0.74685	.	0.046327	0.85682	D	0.000000	T	0.10895	0.0266	L	0.50333	1.59	0.42933	D	0.994326	D	0.58268	0.982	P	0.44561	0.453	T	0.01081	-1.1458	10	0.42905	T	0.14	-11.9034	14.7713	0.69681	0.0686:0.0:0.9314:0.0	rs17778270;rs52835939;rs17778270	656	Q9HCG8	CWC22_HUMAN	V	656	ENSP00000387006:A656V;ENSP00000295749:A656V;ENSP00000384159:A656V	ENSP00000295749:A656V	A	-	2	0	CWC22	180523657	1.000000	0.71417	0.939000	0.37840	0.974000	0.67602	9.476000	0.97823	1.626000	0.50381	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	0	0	1	70	412	0	66	1	1	48	120	0	66	2		0	0	0	0	0	2	1	1	68	407	0	65	2								-3.048230	1	1	120936	2939	68	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CWC22	57703	broad.mit.edu	37	2	180817221	180817221	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180817221T>C	ENST00000410053.3	-	17	2093	c.1794A>G	c.(1792-1794)aaA>aaG	p.K598K	CWC22_ENST00000295749.6_Silent_p.K598K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein			30					TTGCATTAAGTTTAGGAAGAC	0.353000																								0							SO:0001819	synonymous_variant			ENST00000410053.3	0	1	hg19	CCDS46465.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	1	0	1	5	34	0	11	1	9.977589e-01	41	59	0	11	2		0	0	0	0	0	2	1	9.419266e-01	5	34	0	11	2								-11.508570	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.670000	1.000000	1.000000	0.976747	0.990000	1	9.900000e-01	1
CWC22	57703	broad.mit.edu	37	2	180837941	180837941	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180837941C>T	ENST00000410053.3	-	8	1082	c.783G>A	c.(781-783)gcG>gcA	p.A261A	CWC22_ENST00000295749.6_Silent_p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	p.A261A(1)		30					TAATAAGATGCGCCACAAATT	0.358000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000410053.3	0	1	hg19	CCDS46465.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	1	0	1	11	56	0	11	1	9.983123e-01	12	51	0	11	2		0	0	0	0	0	2	1	9.984559e-01	11	53	0	10	2								-8.836604	1	1	120702	16	40	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.998993	0.990000	1	9.900000e-01	1
CWC22	57703	broad.mit.edu	37	2	180842944	180842944	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180842944A>G	ENST00000410053.3	-	6	853	c.554T>C	c.(553-555)cTt>cCt	p.L185P	CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein			30					TTCTTGAAGAAGCTCTTGAAT	0.308000																								0							SO:0001583	missense			ENST00000410053.3	1	1	hg19	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410899	0.83340	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.34667	1.35;1.35;1.35	5.87	5.87	0.94306	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.060030	0.64402	D	0.000002	T	0.71676	0.3368	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81057	-0.1105	10	0.87932	D	0	-11.607	15.4442	0.75216	1.0:0.0:0.0:0.0	.	185	Q9HCG8	CWC22_HUMAN	P	185	ENSP00000387006:L185P;ENSP00000295749:L185P;ENSP00000384159:L185P	ENSP00000295749:L185P	L	-	2	0	CWC22	180551189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.051000	0.93849	2.239000	0.73571	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	1	0	1	25	79	0	19	1	9.998035e-01	18	30	0	19	2		0	0	0	0	0	2	1	1	25	79	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNS3	3790	broad.mit.edu	37	2	18112762	18112762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18112762C>T	ENST00000403915.1	+	3	938	c.487C>T	c.(487-489)Cga>Tga	p.R163*	KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3			32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				TGACACACTGCGATTTGGTCA	0.498000																								0							SO:0001587	stop_gained			ENST00000403915.1	0	1	hg19	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995490	0.54147	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	.	.	.	5.88	0.769	0.18492	.	0.362862	0.30602	N	0.009277	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7012	0.12828	0.4916:0.2703:0.0:0.2381	.	.	.	.	X	163	.	ENSP00000305824:R163X	R	+	1	2	KCNS3	17976243	1.000000	0.71417	0.139000	0.22197	0.009000	0.06853	2.131000	0.42074	-0.144000	0.11314	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	1	0	0	30	298	0	62	1	9.995851e-01	6	115	0	62	2		0	0	0	0	0	2	1	1	28	290	0	62	2								-3.318794	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.810000	1.000000	1.000000	0.983117	0.990000	1	9.700000e-01	1
KCNS3	3790	broad.mit.edu	37	2	18113720	18113720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18113720C>T	ENST00000403915.1	+	3	1896	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3			32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				ATTTGTAACACCACCTCCTTG	0.453000																								0							SO:0001583	missense			ENST00000403915.1	1	1	hg19	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	2.457	-0.325134	0.05350	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97041	-4.22;-4.22	5.91	1.86	0.25419	.	1.066720	0.07169	N	0.852063	D	0.94456	0.8216	L	0.51422	1.61	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	D	0.85296	0.1070	10	0.38643	T	0.18	.	6.756	0.23514	0.0:0.7048:0.1209:0.1743	.	482	Q9BQ31	KCNS3_HUMAN	I	482	ENSP00000385968:T482I;ENSP00000305824:T482I	ENSP00000305824:T482I	T	+	2	0	KCNS3	17977201	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	0.290000	0.18975	0.052000	0.16007	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	1	0	1	115	286	0	74	1	1	20	121	0	74	2		0	0	0	0	0	2	1	1	114	282	0	74	2								-20.000000	1	1	121412	2	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBE2E3	10477	broad.mit.edu	37	2	181846774	181846774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:181846774C>T	ENST00000410062.4	+	2	398	c.5C>T	c.(4-6)tCc>tTc	p.S2F	UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F|AC104076.3_ENST00000428080.1_RNA|UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3			11					ACCAAGATGTCCAGTGATAGG	0.478000																								0							SO:0001583	missense			ENST00000410062.4	1	1	hg19	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866090	0.71949	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000409513;ENST00000426294;ENST00000409247;ENST00000409596	T;T	0.66995	-0.24;-0.24	5.15	3.33	0.38152	.	0.084010	0.51477	D	0.000093	T	0.65396	0.2687	L	0.54323	1.7	0.58432	D	0.999996	B	0.27229	0.172	B	0.37387	0.248	T	0.65043	-0.6264	10	0.87932	D	0	.	10.7273	0.46077	0.0:0.7957:0.1325:0.0718	.	2	Q969T4	UB2E3_HUMAN	F	2	ENSP00000376215:S2F;ENSP00000386788:S2F	ENSP00000376215:S2F	S	+	2	0	UBE2E3	181555019	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.246000	0.78247	0.668000	0.31126	-0.175000	0.13238	TCC		TCGA-IB-7651-01A-11D-2154-08	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	1	0	1	68	263	0	70	1	1	41	79	0	70	2		0	0	0	0	0	2	1	1	67	258	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CERKL	375298	broad.mit.edu	37	2	182413296	182413296	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182413296T>G	ENST00000339098.5	-	9	1186	c.1187A>C	c.(1186-1188)aAc>aCc	p.N396T	CERKL_ENST00000410087.3_Missense_Mutation_p.N370T|CERKL_ENST00000374970.2_Missense_Mutation_p.N301T|CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T			Q49MI3	CERKL_HUMAN	ceramide kinase-like			32			OV - Ovarian serous cystadenocarcinoma(117;0.088)		ATCAGAGCTGTTAAATGGTAA	0.303000																								0							SO:0001583	missense			ENST00000339098.5	1	1	hg19	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813822	0.32053	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30714	2.33;2.56;1.55;2.56;1.52	5.58	0.573	0.17363	.	1.269650	0.04866	N	0.445003	T	0.20373	0.0490	L	0.34521	1.04	0.09310	N	1	B;P;B;B;B	0.38195	0.212;0.622;0.152;0.199;0.126	B;B;B;B;B	0.36092	0.055;0.217;0.116;0.117;0.035	T	0.15321	-1.0441	10	0.13470	T	0.59	.	4.6924	0.12786	0.1415:0.3046:0.0:0.5539	.	352;257;301;370;396	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	T	370;352;257;396;301	ENSP00000386725:N370T;ENSP00000387080:N352T;ENSP00000364108:N257T;ENSP00000341159:N396T;ENSP00000364109:N301T	ENSP00000341159:N396T	N	-	2	0	CERKL	182121541	0.000000	0.05858	0.012000	0.15200	0.977000	0.68977	0.544000	0.23253	0.071000	0.16664	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1	1	0	1	27	146	0	32	1	7.675980e-01	5	12	0	32	2		0	0	0	0	0	2	1	1	27	146	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
NEUROD1	4760	broad.mit.edu	37	2	182542881	182542881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182542881C>T	ENST00000295108.3	-	2	1164	c.707G>A	c.(706-708)aGc>aAc	p.S236N	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1			25			OV - Ovarian serous cystadenocarcinoma(117;0.088)		GACATGGGAGCTGTCCATGGT	0.627000											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)												0							SO:0001583	missense			ENST00000295108.3	1	1	hg19	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.841010	0.32513	.	.	ENSG00000162992	ENST00000295108	T	0.65364	-0.15	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.130034	0.64402	D	0.000002	T	0.52853	0.1760	L	0.31420	0.93	0.47123	D	0.999328	B	0.32968	0.392	B	0.33960	0.173	T	0.45659	-0.9246	10	0.18276	T	0.48	-24.2673	19.1109	0.93315	0.0:1.0:0.0:0.0	.	236	Q13562	NDF1_HUMAN	N	236	ENSP00000295108:S236N	ENSP00000295108:S236N	S	-	2	0	NEUROD1	182251126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.688000	0.46984	2.850000	0.98022	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	1	0	1	105	538	0	102	0	6.930174e-01	0	14	0	102	2		0	0	0	0	0	2	1	1	103	527	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEUROD1	4760	broad.mit.edu	37	2	182543157	182543157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182543157C>T	ENST00000295108.3	-	2	888	c.431G>A	c.(430-432)cGc>cAc	p.R144H	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	p.R144L(1)		25			OV - Ovarian serous cystadenocarcinoma(117;0.088)		CTTGGCCAAGCGCAGAGTCTC	0.567000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000295108.3	1	1	hg19	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133671	0.77662	.	.	ENSG00000162992	ENST00000295108	D	0.98249	-4.82	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	-7.4311	19.4236	0.94732	0.0:1.0:0.0:0.0	.	144	Q13562	NDF1_HUMAN	H	144	ENSP00000295108:R144H	ENSP00000295108:R144H	R	-	2	0	NEUROD1	182251402	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	1	0	1	49	437	0	77	0	5.582326e-01	0	18	0	77	2		0	0	0	0	1	2	1	1	49	429	0	77	2								-15.837090	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.970000	1.000000	1.000000	0.997889	0.990000	1	9.900000e-01	1
SSFA2	6744	broad.mit.edu	37	2	182781011	182781011	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781011G>T	ENST00000431877.2	+	11	2823	c.2644G>T	c.(2644-2646)Gct>Tct	p.A882S	SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S|SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S|SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2			38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)		TAGTGCCTTCGCTTCCCCTTT	0.517000																								0							SO:0001583	missense			ENST00000431877.2	1	1	hg19	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.857345	0.00558	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.55	-11.1	0.00147	.	2.062670	0.01651	N	0.024554	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.006;0.006;0.006;0.006	B;B;B;B;B	0.13407	0.003;0.009;0.003;0.003;0.003	T	0.09207	-1.0685	10	0.16420	T	0.52	5.4602	5.474	0.16686	0.163:0.2509:0.4531:0.133	.	729;391;882;882;882	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	S	882;882;882;729;391	ENSP00000388731:A882S;ENSP00000314669:A882S;ENSP00000387319:A882S;ENSP00000409867:A729S;ENSP00000386916:A391S	ENSP00000314669:A882S	A	+	1	0	SSFA2	182489256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.891000	0.01611	-3.744000	0.00112	-0.136000	0.14681	GCT		TCGA-IB-7651-01A-11D-2154-08	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	1	0	1	116	371	0	66	1	1	171	115	0	66	2		0	0	0	0	0	2	1	1	114	361	0	66	2								-5.069180	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSFA2	6744	broad.mit.edu	37	2	182781142	182781142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781142G>T	ENST00000431877.2	+	11	2954	c.2775G>T	c.(2773-2775)caG>caT	p.Q925H	SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2			38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)		ACTCACTGCAGAATCTTTCAC	0.393000																								0							SO:0001583	missense			ENST00000431877.2	1	1	hg19	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529694	0.64860	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.95	5.95	0.96441	.	0.099627	0.64402	D	0.000001	T	0.64724	0.2624	M	0.74881	2.28	0.52099	D	0.99994	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997	T	0.65796	-0.6081	10	0.62326	D	0.03	-7.6063	14.5295	0.67915	0.0694:0.0:0.9306:0.0	.	772;434;925;925;925	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	H	925;925;925;772;434	ENSP00000388731:Q925H;ENSP00000314669:Q925H;ENSP00000387319:Q925H;ENSP00000409867:Q772H;ENSP00000386916:Q434H	ENSP00000314669:Q925H	Q	+	3	2	SSFA2	182489387	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.660000	0.68018	2.824000	0.97209	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	1	0	1	50	247	0	68	1	1	27	336	0	68	2		0	0	0	0	0	2	1	1	49	243	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSFA2	6744	broad.mit.edu	37	2	182783536	182783536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182783536C>T	ENST00000431877.2	+	13	3099	c.2920C>T	c.(2920-2922)Caa>Taa	p.Q974*	SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2			38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)		GTTTAGAACACAAATGATGGA	0.363000																								0							SO:0001587	stop_gained			ENST00000431877.2	0	1	hg19	CCDS46467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.729520|9.729520	0.99249|0.99249	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	.|.	.|.	.|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.051759|.	0.85682|.	D|.	0.000000|.	.|D	.|0.83440	.|0.5255	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.83973	.|0.0328	.|4	0.32370|0.87932	T|D	0.25|0	-15.6619|-15.6619	20.7342|20.7342	0.99715|0.99715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	974;974;974;821;483|12	.|.	ENSP00000314669:Q974X|ENSP00000390457:T12I	Q|T	+|+	1|2	0|0	SSFA2|SSFA2	182491781|182491781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.538000|6.538000	0.73852|0.73852	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CAA|ACA		TCGA-IB-7651-01A-11D-2154-08	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	1	0	1	51	251	0	35	1	1	13	247	0	35	2		0	0	0	0	0	2	1	1	51	248	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE1A	5136	broad.mit.edu	37	2	183387083	183387083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183387083C>T	ENST00000410103.1	-	2	104	c.21G>A	c.(19-21)gaG>gaA	p.E7E	PDE1A_ENST00000358139.2_Silent_p.E7E|PDE1A_ENST00000536095.1_5'Flank|PDE1A_ENST00000456212.1_Silent_p.E7E|PDE1A_ENST00000435564.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent			35			OV - Ovarian serous cystadenocarcinoma(117;0.061)	Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ATTCTTCAATCTCTGTGGCAC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000410103.1	1	1	hg19	CCDS33344.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1	1	0	1	93	492	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	92	482	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRZB	2487	broad.mit.edu	37	2	183699691	183699691	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183699691C>T	ENST00000295113.4	-	6	1472	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein			21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		CATATCCCAGCGCTGTGAAAT	0.428000																								0							SO:0001630	splice_region_variant			ENST00000295113.4	1	0	hg19	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447749	0.84101	2.27E-4	0.0	ENSG00000162998	ENST00000295113	T	0.25579	1.79	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.34453	-0.9828	10	0.72032	D	0.01	.	19.628	0.95687	0.0:1.0:0.0:0.0	.	288	Q92765	SFRP3_HUMAN	H	288	ENSP00000295113:R288H	ENSP00000295113:R288H	R	-	2	0	FRZB	183407936	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.359000	0.66074	2.648000	0.89879	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	1	0	1	110	329	0	65	0	1	0	243	0	65	2		0	0	0	0	0	2	1	1	109	322	0	65	2								-5.574040	1	1	121404	3	34	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCKAP1	10787	broad.mit.edu	37	2	183791578	183791578	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183791578C>A	ENST00000361354.4	-	30	3608	c.3236G>T	c.(3235-3237)aGa>aTa	p.R1079I	NCKAP1_ENST00000478449.1_5'Flank|NCKAP1_ENST00000360982.2_Missense_Mutation_p.R1085I	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1			45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		TTCTCTATTTCTTGTTGTAGT	0.313000																								0							SO:0001583	missense			ENST00000361354.4	1	1	hg19	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162703	0.94727	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34859	1.34;1.34	5.36	5.36	0.76844	.	0.046284	0.85682	D	0.000000	T	0.56775	0.2008	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61800	0.894;0.83	T	0.59118	-0.7514	10	0.66056	D	0.02	-11.3828	19.0627	0.93099	0.0:1.0:0.0:0.0	.	1079;1085	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	I	1079;1085	ENSP00000355348:R1079I;ENSP00000354251:R1085I	ENSP00000354251:R1085I	R	-	2	0	NCKAP1	183499823	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.578000	0.82498	2.487000	0.83934	0.585000	0.79938	AGA		TCGA-IB-7651-01A-11D-2154-08	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1	77	223	0	57	1	1	78	472	0	57	2		0	0	0	0	0	2	1	1	77	221	0	57	2								-5.437750	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCKAP1	10787	broad.mit.edu	37	2	183793529	183793529	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183793529A>G	ENST00000361354.4	-	28	3424	c.3052T>C	c.(3052-3054)Tac>Cac	p.Y1018H	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.Y1024H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1			45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		GCAGGGCTGTACTGAGACATC	0.363000																								0							SO:0001583	missense			ENST00000361354.4	1	1	hg19	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113469	0.77210	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.51071	0.72;0.72	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.983	T	0.77611	-0.2523	10	0.87932	D	0	-11.5344	15.8359	0.78796	1.0:0.0:0.0:0.0	.	1018;1024	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	1018;1024	ENSP00000355348:Y1018H;ENSP00000354251:Y1024H	ENSP00000354251:Y1024H	Y	-	1	0	NCKAP1	183501774	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	9.229000	0.95273	2.206000	0.71126	0.383000	0.25322	TAC		TCGA-IB-7651-01A-11D-2154-08	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1	76	261	0	69	1	1	54	337	0	69	2		0	0	0	0	0	2	1	1	75	253	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCKAP1	10787	broad.mit.edu	37	2	183800055	183800055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183800055G>A	ENST00000361354.4	-	25	3116	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.S921F	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1			45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		TGATCGGAAGGATAAAATTAC	0.333000																								0							SO:0001583	missense			ENST00000361354.4	1	1	hg19	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047969	0.93740	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67103	0.949;0.916	T	0.60052	-0.7338	10	0.32370	T	0.25	-7.4815	19.2877	0.94085	0.0:0.0:1.0:0.0	.	915;921	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	F	915;921	ENSP00000355348:S915F;ENSP00000354251:S921F	ENSP00000354251:S921F	S	-	2	0	NCKAP1	183508300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.638000	0.89438	0.585000	0.79938	TCC		TCGA-IB-7651-01A-11D-2154-08	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1	66	223	0	85	1	1	61	464	0	85	2		0	0	0	0	0	2	1	1	64	217	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCKAP1	10787	broad.mit.edu	37	2	183850942	183850942	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183850942T>C	ENST00000361354.4	-	10	1333	c.961A>G	c.(961-963)Att>Gtt	p.I321V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I327V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1			45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		ATGTCATTAATACGTTTATTA	0.313000																								0							SO:0001583	missense			ENST00000361354.4	1	1	hg19	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	9.687	1.150960	0.21371	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.51	5.51	0.81932	.	0.045134	0.85682	D	0.000000	T	0.17323	0.0416	N	0.13327	0.33	0.58432	D	0.999997	B;B	0.18166	0.026;0.012	B;B	0.17979	0.02;0.012	T	0.06023	-1.0850	10	0.05721	T	0.95	-12.7699	14.7984	0.69894	0.0:0.0:0.0:1.0	.	321;327	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	321;327	ENSP00000355348:I321V;ENSP00000354251:I327V	ENSP00000354251:I327V	I	-	1	0	NCKAP1	183559187	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.654000	0.61469	2.106000	0.64143	0.402000	0.26972	ATT		TCGA-IB-7651-01A-11D-2154-08	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	1	32	156	0	16	1	1	102	186	0	16	2		0	0	0	0	0	2	1	1	32	153	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NCKAP1	10787	broad.mit.edu	37	2	183867735	183867735	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183867735A>G	ENST00000361354.4	-	4	708	c.336T>C	c.(334-336)aaT>aaC	p.N112N	NCKAP1_ENST00000360982.2_Silent_p.N118N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1			45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		CGTCAATAGTATTCAGCAATT	0.308000																								0							SO:0001819	synonymous_variant			ENST00000361354.4	1	1	hg19	CCDS2287.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	1	0	0	8	149	0	52	1	9.981077e-01	8	218	0	52	2		0	0	0	0	0	2	1	9.885271e-01	8	144	0	52	2								-11.632480	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.700000	0.320000	1.000000	1.000000	0.714390	0.700000	0	4.800000e-01	1
ZNF804A	91752	broad.mit.edu	37	2	185802746	185802746	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185802746T>G	ENST00000302277.6	+	4	3217	c.2623T>G	c.(2623-2625)Tta>Gta	p.L875V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A			146					AACAAACCAATTAAGAAACAA	0.363000																								0							SO:0001583	missense			ENST00000302277.6	1	1	hg19	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.259109	0.00021	.	.	ENSG00000170396	ENST00000302277	T	0.05786	3.39	5.42	1.27	0.21489	.	1.099100	0.07006	N	0.824313	T	0.01940	0.0061	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45542	-0.9254	10	0.06625	T	0.88	-1.0291	1.7147	0.02899	0.1615:0.1326:0.4125:0.2934	.	875	Q7Z570	Z804A_HUMAN	V	875	ENSP00000303252:L875V	ENSP00000303252:L875V	L	+	1	2	ZNF804A	185510991	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.345000	0.19979	0.234000	0.21139	-0.452000	0.05504	TTA		TCGA-IB-7651-01A-11D-2154-08	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	1	0	0	40	451	0	79	0	1.998351e-02	0	3	0	79	2		0	0	0	0	0	2	1	1	39	444	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.750000	1.000000	1.000000	0.962161	0.990000	1	8.900000e-01	1
ZNF804A	91752	broad.mit.edu	37	2	185803264	185803264	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185803264A>G	ENST00000302277.6	+	4	3735	c.3141A>G	c.(3139-3141)gtA>gtG	p.V1047V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A			146					TCAAAAATGTACCATGTGAGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000302277.6	1	1	hg19	CCDS2291.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	1	0	1	146	437	0	90	0	6.346373e-02	0	2	0	90	2		0	0	0	0	0	2	1	1	144	427	0	90	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSIP2	401024	broad.mit.edu	37	2	186671080	186671080	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671080A>G	ENST00000424728.1	+	17	17047	c.17047A>G	c.(17047-17049)Aat>Gat	p.N5683D	FSIP2_ENST00000343098.5_Missense_Mutation_p.N5772D			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2			69					TGTCATTGAAAATATTTTTGA	0.378000																								0							SO:0001583	missense			ENST00000424728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	12.34	1.909852	0.33721	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.50548	0.74;0.74	5.21	5.21	0.72293	.	.	.	.	.	T	0.45418	0.1341	L	0.32530	0.975	0.29107	N	0.881129	.	.	.	.	.	.	T	0.47849	-0.9085	7	0.56958	D	0.05	.	11.3864	0.49787	1.0:0.0:0.0:0.0	.	.	.	.	D	5772;5683	ENSP00000344403:N5772D;ENSP00000401306:N5683D	ENSP00000344403:N5772D	N	+	1	0	FSIP2	186379325	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.007000	0.57093	2.175000	0.68902	0.482000	0.46254	AAT		TCGA-IB-7651-01A-11D-2154-08	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1	78	341	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	76	337	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSIP2	401024	broad.mit.edu	37	2	186671708	186671708	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671708C>A	ENST00000424728.1	+	17	17675	c.17675C>A	c.(17674-17676)cCt>cAt	p.P5892H	FSIP2_ENST00000343098.5_Missense_Mutation_p.P5981H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2			69					AAAATGCCACCTATGCATAAA	0.343000																								0							SO:0001583	missense			ENST00000424728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.542692	0.00934	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.94	4.52	1.24	0.21308	.	.	.	.	.	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19844	-1.0293	7	0.44086	T	0.13	.	6.0926	0.20003	0.3565:0.5258:0.1177:0.0	.	.	.	.	H	5981;5892	ENSP00000344403:P5981H;ENSP00000401306:P5892H	ENSP00000344403:P5981H	P	+	2	0	FSIP2	186379953	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.154000	0.10130	0.020000	0.15106	-0.479000	0.04858	CCT		TCGA-IB-7651-01A-11D-2154-08	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1	53	285	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	53	283	0	76	2								-3.028143	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSIP2	401024	broad.mit.edu	37	2	186671858	186671858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671858G>A	ENST00000424728.1	+	17	17825	c.17825G>A	c.(17824-17826)gGa>gAa	p.G5942E	FSIP2_ENST00000343098.5_Missense_Mutation_p.G6031E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2			69					AACAGTAATGGAGAAAATTTA	0.318000																								0							SO:0001583	missense			ENST00000424728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.44	1.938612	0.34189	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.55413	0.52;0.53	4.8	2.01	0.26516	.	0.701833	0.13045	N	0.418241	T	0.43389	0.1245	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.30995	-0.9959	8	0.38643	T	0.18	.	6.7008	0.23225	0.2981:0.0:0.7019:0.0	.	.	.	.	E	6031;5942	ENSP00000344403:G6031E;ENSP00000401306:G5942E	ENSP00000344403:G6031E	G	+	2	0	FSIP2	186380103	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	0.567000	0.23608	0.232000	0.21100	0.491000	0.48974	GGA		TCGA-IB-7651-01A-11D-2154-08	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1	79	378	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	78	374	0	86	2								-3.110506	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSIP2	401024	broad.mit.edu	37	2	186672574	186672574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186672574G>T	ENST00000424728.1	+	17	18541	c.18541G>T	c.(18541-18543)Gaa>Taa	p.E6181*	FSIP2_ENST00000343098.5_Nonsense_Mutation_p.E6270*			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2			69					CATAATAGAAGAAATTGCTGT	0.303000																								0							SO:0001587	stop_gained			ENST00000424728.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	57	29.478575	0.99975	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	4.96	3.11	0.35812	.	0.364751	0.23740	N	0.045026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.3689	0.16129	0.1048:0.0:0.6956:0.1996	.	.	.	.	X	6270;6181	.	ENSP00000344403:E6270X	E	+	1	0	FSIP2	186380819	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.229000	0.51278	0.645000	0.30675	0.484000	0.47621	GAA		TCGA-IB-7651-01A-11D-2154-08	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1	66	170	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	65	166	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSIP2	401024	broad.mit.edu	37	2	186673515	186673515	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186673515A>G	ENST00000424728.1	+	17	19482	c.19482A>G	c.(19480-19482)gaA>gaG	p.E6494E	FSIP2_ENST00000343098.5_Silent_p.E6583E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2			69					AGGCCCAAGAACATGCTTTTA	0.323000																								0							SO:0001819	synonymous_variant			ENST00000424728.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	0	0	0	17	437	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	9.999626e-01	17	431	0	85	2								-3.913082	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.490000	0.290000	1.000000	0.470000	0.540611	0.490000	0	3.800000e-01	6.700000e-01
FSIP2	401024	broad.mit.edu	37	2	186678279	186678279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186678279C>T	ENST00000424728.1	+	18	19835	c.19835C>T	c.(19834-19836)gCt>gTt	p.A6612V	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6701V			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2			69					CAGGCCGTTGCTAGAAATTCA	0.284000																								0							SO:0001583	missense			ENST00000424728.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.96	1.498684	0.26861	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47528	0.84;0.84	5.28	4.4	0.53042	.	0.657980	0.14932	N	0.290028	T	0.38453	0.1041	N	0.22421	0.69	0.18873	N	0.999984	.	.	.	.	.	.	T	0.25047	-1.0143	8	0.29301	T	0.29	.	11.9003	0.52680	0.0:0.1782:0.8218:0.0	.	.	.	.	V	6701;6612	ENSP00000344403:A6701V;ENSP00000401306:A6612V	ENSP00000344403:A6701V	A	+	2	0	FSIP2	186386524	1.000000	0.71417	0.196000	0.23383	0.000000	0.00434	3.393000	0.52544	1.462000	0.47948	-0.280000	0.10049	GCT		TCGA-IB-7651-01A-11D-2154-08	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	1	0	1	24	82	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999999e-01	23	80	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3H15	55854	broad.mit.edu	37	2	187370212	187370212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187370212C>T	ENST00000337859.6	+	7	979	c.752C>T	c.(751-753)aCt>aTt	p.T251I	AC018867.2_ENST00000595956.1_5'Flank|ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15			15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		ACCAAAATCACTCTAGAATCT	0.368000																								0							SO:0001583	missense			ENST00000337859.6	1	1	hg19	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096806	0.94197	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.58797	0.31	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84774	0.0769	10	0.87932	D	0	-7.9277	20.8794	0.99867	0.0:1.0:0.0:0.0	.	251	Q8WU90	ZC3HF_HUMAN	I	251;46;251	ENSP00000338788:T251I	ENSP00000338788:T251I	T	+	2	0	ZC3H15	187078457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.941000	0.99782	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	1	0	1	71	255	0	41	1	1	69	232	0	41	2		0	0	0	0	0	2	1	1	70	251	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGAV	3685	broad.mit.edu	37	2	187455135	187455135	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187455135C>A	ENST00000261023.3	+	1	344	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V			47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	Antithymocyte globulin(DB00098)	CTCGGGACTCCTGCTACCTCT	0.672000													Melanoma(58;108 1995 6081)											0							SO:0001583	missense			ENST00000261023.3	1	1	hg19	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515380	0.44763	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	D;D	0.85411	-1.98;-1.98	4.18	3.25	0.37280	.	0.974764	0.08378	N	0.954986	D	0.85204	0.5643	M	0.71036	2.16	0.80722	D	1	D;P	0.54207	0.965;0.94	P;B	0.47981	0.563;0.36	T	0.78478	-0.2188	10	0.36615	T	0.2	.	4.9857	0.14189	0.0:0.5721:0.2921:0.1358	.	24;24	P06756-2;P06756	.;ITAV_HUMAN	M	24	ENSP00000261023:L24M;ENSP00000364042:L24M	ENSP00000261023:L24M	L	+	1	2	ITGAV	187163380	0.050000	0.20438	0.997000	0.53966	0.938000	0.57974	0.460000	0.21924	0.853000	0.35312	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	1	0	0	73	247	0	41	1	9.999999e-01	8	76	0	41	2		0	0	0	0	0	2	1	1	72	245	0	40	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGAV	3685	broad.mit.edu	37	2	187503034	187503034	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503034G>T	ENST00000261023.3	+	9	1107	c.833G>T	c.(832-834)aGg>aTg	p.R278M	ITGAV_ENST00000374907.3_Missense_Mutation_p.R242M|ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V			47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	Antithymocyte globulin(DB00098)	AGAGCAGCAAGGACTTTGGGA	0.333000													Melanoma(58;108 1995 6081)											0							SO:0001583	missense			ENST00000261023.3	0	1	hg19	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707136	0.68615	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.68025	-0.3;-0.3;-0.3	5.43	5.43	0.79202	.	0.146549	0.64402	D	0.000008	T	0.65112	0.2660	N	0.17594	0.5	0.44036	D	0.996766	D;B;D	0.62365	0.991;0.082;0.991	P;B;P	0.62491	0.903;0.037;0.903	T	0.63382	-0.6650	10	0.30854	T	0.27	.	12.5628	0.56293	0.076:0.0:0.924:0.0	.	232;242;278	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	M	278;278;242;232	ENSP00000261023:R278M;ENSP00000364042:R242M;ENSP00000404291:R232M	ENSP00000261023:R278M	R	+	2	0	ITGAV	187211279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.040000	0.57333	2.548000	0.85928	0.643000	0.83706	AGG		TCGA-IB-7651-01A-11D-2154-08	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	0	0	0	8	260	0	54	1	9.986118e-01	9	404	0	54	2		0	0	0	0	0	2	1	9.884855e-01	8	253	0	54	2								-3.119411	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.410000	0.180000	1.000000	0.380000	0.468350	0.410000	0	2.800000e-01	6.200000e-01
ITGAV	3685	broad.mit.edu	37	2	187503186	187503186	+	Silent	SNP	C	C	T	rs140473956		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503186C>T	ENST00000261023.3	+	10	1171	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ITGAV_ENST00000374907.3_Silent_p.G263G|ITGAV_ENST00000433736.2_Silent_p.G253G|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V			47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	Antithymocyte globulin(DB00098)	ATTTTACTGGCGAGCAGGTAT	0.333000													Melanoma(58;108 1995 6081)											0							SO:0001819	synonymous_variant			ENST00000261023.3	1	1	hg19	CCDS2292.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	1	0	1	58	286	0	50	1	1	27	297	0	50	2		0	0	0	0	0	2	1	1	56	281	0	50	2								-3.177324	1	1	121400	1	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGAV	3685	broad.mit.edu	37	2	187531458	187531458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187531458C>T	ENST00000261023.3	+	22	2468	c.2194C>T	c.(2194-2196)Cac>Tac	p.H732Y	ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y|ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V			47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	Antithymocyte globulin(DB00098)	TTTCAGTGTGCACCAGCAGTC	0.318000													Melanoma(58;108 1995 6081)											0							SO:0001583	missense			ENST00000261023.3	1	1	hg19	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463354	0.84425	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.44881	0.91;0.91;0.91	5.67	5.67	0.87782	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.62723	1.935	0.80722	D	1	P;P;P	0.47910	0.902;0.659;0.902	P;P;P	0.54270	0.747;0.5;0.747	T	0.56589	-0.7954	10	0.51188	T	0.08	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	686;696;732	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	Y	732;696;686	ENSP00000261023:H732Y;ENSP00000364042:H696Y;ENSP00000404291:H686Y	ENSP00000261023:H732Y	H	+	1	0	ITGAV	187239703	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.907000	0.56348	2.664000	0.90586	0.557000	0.71058	CAC		TCGA-IB-7651-01A-11D-2154-08	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	1	0	1	56	331	0	56	1	1	67	402	0	56	2		0	0	0	0	0	2	1	1	56	327	0	55	2								-19.999990	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSWIM2	151112	broad.mit.edu	37	2	187694554	187694554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187694554G>A	ENST00000295131.2	-	8	1034	c.995C>T	c.(994-996)aCt>aTt	p.T332I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2			52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		ACTATTCTTAGTAATCAGTTG	0.388000																								0							SO:0001583	missense			ENST00000295131.2	1	1	hg19	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717424	0.68844	.	.	ENSG00000163012	ENST00000295131	T	0.67523	-0.27	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000026	T	0.71710	0.3372	L	0.47190	1.495	0.34588	D	0.715199	D	0.67145	0.996	P	0.56612	0.802	T	0.79766	-0.1665	10	0.72032	D	0.01	-15.1682	13.4258	0.61024	0.0:0.1572:0.8428:0.0	.	332	Q8NEG5	ZSWM2_HUMAN	I	332	ENSP00000295131:T332I	ENSP00000295131:T332I	T	-	2	0	ZSWIM2	187402799	1.000000	0.71417	0.620000	0.29132	0.859000	0.49053	4.432000	0.59922	2.873000	0.98535	0.563000	0.77884	ACT		TCGA-IB-7651-01A-11D-2154-08	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	1	0	1	108	475	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	108	467	0	87	2								-20.000000	1	1	121410	1	31	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFPI	7035	broad.mit.edu	37	2	188332545	188332545	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188332545C>T	ENST00000233156.3	-	7	1037	c.743G>A	c.(742-744)aGt>aAt	p.S248N	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)			9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)	Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CCCACATCCACTGTACTTAAA	0.408000																								0							SO:0001583	missense			ENST00000233156.3	1	1	hg19	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355321	0.61293	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055	T;T;T	0.58060	0.36;0.36;0.36	5.44	3.54	0.40534	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.204893	0.49916	D	0.000130	T	0.54367	0.1854	M	0.71581	2.175	0.29044	N	0.884898	P	0.52842	0.956	P	0.46049	0.502	T	0.54516	-0.8282	10	0.33141	T	0.24	.	12.2335	0.54500	0.0:0.6561:0.3439:0.0	.	248	P10646	TFPI1_HUMAN	N	248	ENSP00000376172:S248N;ENSP00000233156:S248N;ENSP00000397248:S248N	ENSP00000233156:S248N	S	-	2	0	TFPI	188040790	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.230000	0.42999	0.694000	0.31654	0.557000	0.71058	AGT		TCGA-IB-7651-01A-11D-2154-08	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	1	0	1	130	440	0	90	1	1	40	181	0	90	2		0	0	0	0	0	2	1	1	129	436	0	90	2								-20.000000	1	1	121408	1	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFPI	7035	broad.mit.edu	37	2	188361643	188361643	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188361643T>G	ENST00000233156.3	-	3	578	c.284A>C	c.(283-285)gAa>gCa	p.E95A	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.E95A|TFPI_ENST00000339091.4_Missense_Mutation_p.E95A|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)			9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)	Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTCCAGACTTTCAAATCGATT	0.363000																								0							SO:0001583	missense			ENST00000233156.3	1	1	hg19	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095576	0.36952	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.62	1.51	0.23008	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	1.051830	0.07336	N	0.879995	T	0.44767	0.1309	L	0.44542	1.39	0.09310	N	1	P;B	0.34955	0.477;0.277	B;B	0.37731	0.115;0.257	T	0.29579	-1.0007	10	0.14656	T	0.56	.	9.0121	0.36148	0.5555:0.0:0.0:0.4445	.	95;95	P10646-2;P10646	.;TFPI1_HUMAN	A	95	ENSP00000376172:E95A;ENSP00000233156:E95A;ENSP00000397248:E95A;ENSP00000409177:E95A;ENSP00000386344:E95A;ENSP00000342306:E95A;ENSP00000388159:E95A;ENSP00000408170:E95A;ENSP00000394185:E95A	ENSP00000233156:E95A	E	-	2	0	TFPI	188069888	0.000000	0.05858	0.170000	0.22879	0.926000	0.56050	0.101000	0.15251	0.355000	0.24131	0.477000	0.44152	GAA		TCGA-IB-7651-01A-11D-2154-08	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	1	0	1	77	367	0	96	1	1	30	263	0	96	2		0	0	0	0	0	2	1	1	75	356	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYT1L	23040	broad.mit.edu	37	2	1893190	1893190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1893190C>T	ENST00000399161.2	-	16	3090	c.2343G>A	c.(2341-2343)agG>agA	p.R781R	MYT1L_ENST00000428368.2_Silent_p.R779R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like			97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)			TGTCCCGCGGCCTCTGCTTGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000399161.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	1	66	314	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	64	308	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIRC1	116093	broad.mit.edu	37	2	189599453	189599453	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189599453G>A	ENST00000308100.4	-	2	465	c.195C>T	c.(193-195)tgC>tgT	p.C65C	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1			7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		GTTTATAAAAGCATGTGTCTG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000308100.4	1	1	hg19	CCDS2296.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	1	0	0	170	524	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	162	511	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL3A1	1281	broad.mit.edu	37	2	189862066	189862066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189862066C>T	ENST00000304636.3	+	26	1990	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1			126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	Collagenase(DB00048)	TTTTAGGGTCCTCCTGGAAAG	0.433000																								0							SO:0001583	missense			ENST00000304636.3	1	1	hg19	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	9.056	0.993368	0.19043	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93659	-3.26;-3.26	6.03	4.98	0.66077	.	0.298232	0.23977	N	0.042719	D	0.87569	0.6210	L	0.35723	1.085	0.19300	N	0.999971	B	0.06786	0.001	B	0.15870	0.014	T	0.68625	-0.5359	10	0.07482	T	0.82	.	12.5333	0.56128	0.0:0.86:0.0:0.14	.	607	P02461	CO3A1_HUMAN	L	607	ENSP00000304408:P607L;ENSP00000315243:P607L	ENSP00000304408:P607L	P	+	2	0	COL3A1	189570311	0.001000	0.12720	0.999000	0.59377	0.440000	0.31957	0.303000	0.19210	2.868000	0.98415	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	1	0	1	78	373	0	108	1	1	2	7526	0	108	2		0	0	0	0	0	2	1	1	72	366	0	108	2								-3.111508	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL3A1	1281	broad.mit.edu	37	2	189872614	189872614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189872614C>T	ENST00000304636.3	+	46	3537	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1			126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	Collagenase(DB00048)	TTTCCAGGGCCCTGCTGGTCA	0.483000																								0							SO:0001583	missense			ENST00000304636.3	1	1	hg19	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634509	0.14322	.	.	ENSG00000168542	ENST00000304636	D	0.92397	-3.03	5.5	1.43	0.22495	.	0.499804	0.17163	N	0.184617	D	0.85427	0.5694	L	0.41415	1.275	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.70371	-0.4890	10	0.23302	T	0.38	.	7.5953	0.28044	0.1163:0.3413:0.475:0.0674	.	1123	P02461	CO3A1_HUMAN	S	1123	ENSP00000304408:P1123S	ENSP00000304408:P1123S	P	+	1	0	COL3A1	189580859	0.000000	0.05858	0.969000	0.41365	0.943000	0.58893	-0.751000	0.04803	0.263000	0.21812	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	1	0	1	112	345	0	70	0	1	0	7497	0	70	2		0	0	0	0	0	2	1	1	110	341	0	69	2								-5.295904	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A2	1290	broad.mit.edu	37	2	189901341	189901341	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189901341C>T	ENST00000374866.3	-	52	4388		c.e52+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2			95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		TATTAAATTACCTGAGACCCT	0.328000																								0							SO:0001630	splice_region_variant			ENST00000374866.3	1	1	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832870	0.91036	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189609586	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1	48	153	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	47	151	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A2	1290	broad.mit.edu	37	2	189914108	189914108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189914108C>T	ENST00000374866.3	-	44	3386	c.3112G>A	c.(3112-3114)Ggc>Agc	p.G1038S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2			95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		CCATTGGAGCCTGGGGGCCCC	0.453000																								0							SO:0001583	missense			ENST00000374866.3	1	1	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505796	0.85282	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99607	-6.27	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000040	D	0.99829	0.9923	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97011	0.9736	9	.	.	.	.	19.8749	0.96865	0.0:1.0:0.0:0.0	.	678;1038	Q5PR22;P05997	.;CO5A2_HUMAN	S	1038;678	ENSP00000364000:G1038S	.	G	-	1	0	COL5A2	189622353	1.000000	0.71417	0.738000	0.30950	0.718000	0.41266	7.376000	0.79658	2.932000	0.99384	0.644000	0.83932	GGC		TCGA-IB-7651-01A-11D-2154-08	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1	26	96	0	22	0	1	1	1017	0	22	2		0	0	0	0	0	2	1	1	26	95	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A2	1290	broad.mit.edu	37	2	189917698	189917698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189917698C>T	ENST00000374866.3	-	39	2874	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2			95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		TCCCTTCTGTCCTGGCTCTCC	0.433000																								0							SO:0001583	missense			ENST00000374866.3	1	1	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371237	0.82573	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.3	5.3	0.74995	.	0.000000	0.49916	D	0.000127	D	0.99775	0.9907	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	D	0.97205	0.9867	9	.	.	.	.	19.3175	0.94220	0.0:1.0:0.0:0.0	.	507;867	Q5PR22;P05997	.;CO5A2_HUMAN	E	867;507	ENSP00000364000:G867E	.	G	-	2	0	COL5A2	189625943	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.770000	0.85390	2.631000	0.89168	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1	30	171	0	45	0	1	1	1343	0	45	2		0	0	0	0	0	2	1	1	29	171	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
COL5A2	1290	broad.mit.edu	37	2	189922062	189922062	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189922062C>A	ENST00000374866.3	-	34	2595	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2			95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		ACCCTTGGGGCCAGGAGTTCC	0.443000																								0							SO:0001583	missense			ENST00000374866.3	0	1	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045916	0.75846	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99186	-5.53	5.92	5.92	0.95590	.	0.000000	0.52532	D	0.000077	D	0.99588	0.9851	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98080	1.0403	9	.	.	.	.	20.3151	0.98650	0.0:1.0:0.0:0.0	.	414;774	Q5PR22;P05997	.;CO5A2_HUMAN	V	774;414	ENSP00000364000:G774V	.	G	-	2	0	COL5A2	189630307	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GGC		TCGA-IB-7651-01A-11D-2154-08	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	0	0	0	13	345	0	61	0	1	0	1372	0	61	2		0	0	0	0	0	2	1	9.994643e-01	14	334	0	60	2								-13.338850	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.480000	0.260000	1.000000	0.460000	0.533007	0.480000	0	3.600000e-01	6.800000e-01
COL5A2	1290	broad.mit.edu	37	2	189929383	189929383	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189929383T>G	ENST00000374866.3	-	25	1892		c.e25-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2			95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		TTGAGCACCCTGTACCGAGGC	0.478000																								0							SO:0001630	splice_region_variant			ENST00000374866.3	1	1	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663826	0.88251	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0612	0.80839	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189637628	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.438000	0.80431	2.250000	0.74265	0.477000	0.44152	.		TCGA-IB-7651-01A-11D-2154-08	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1	50	328	0	66	0	1.375155e-01	0	5	0	66	2		0	0	0	0	0	2	1	1	50	326	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
COL5A2	1290	broad.mit.edu	37	2	189975161	189975161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189975161C>A	ENST00000374866.3	-	2	386	c.112G>T	c.(112-114)Gaa>Taa	p.E38*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2			95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		CAGGCTATTTCTTCACCATAT	0.383000																								0							SO:0001587	stop_gained			ENST00000374866.3	0	1	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	38	7.219777	0.98143	.	.	ENSG00000204262	ENST00000374866	.	.	.	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6133	0.95618	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	.	E	-	1	0	COL5A2	189683406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.702000	0.92279	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	1	0	1	43	237	0	42	0	1	1	1099	0	42	2		0	0	0	0	0	2	1	1	43	232	0	42	2								-3.087332	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLC40A1	30061	broad.mit.edu	37	2	190426914	190426914	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190426914A>G	ENST00000261024.2	-	8	1832	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1			14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		AAAGGACCAAAGACCtataat	0.284000																								0							SO:0001583	missense			ENST00000261024.2	1	1	hg19	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920082	0.73098	.	.	ENSG00000138449	ENST00000261024	D	0.97016	-4.21	5.92	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);	0.053633	0.85682	N	0.000000	D	0.98049	0.9357	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98278	1.0507	10	0.87932	D	0	-12.7045	11.7231	0.51693	0.9315:0.0:0.0685:0.0	.	469	Q9NP59	S40A1_HUMAN	P	469	ENSP00000261024:L469P	ENSP00000261024:L469P	L	-	2	0	SLC40A1	190135159	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.339000	0.96797	1.078000	0.41014	0.477000	0.44152	CTT		TCGA-IB-7651-01A-11D-2154-08	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2	1	0	0	41	121	0	22	1	1	634	801	0	22	2		0	0	0	0	0	2	1	1	40	120	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASNSD1	54529	broad.mit.edu	37	2	190531602	190531602	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190531602G>A	ENST00000260952.4	+	4	1157	c.744G>A	c.(742-744)ttG>ttA	p.L248L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1			25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		ATATGATGTTGCCACAAGCTG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000260952.4	1	1	hg19	CCDS2300.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	1	0	1	102	511	0	102	1	1	29	128	0	102	2		0	0	0	0	0	2	1	1	103	501	0	102	2								-3.326949	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKAR	150709	broad.mit.edu	37	2	190593005	190593005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190593005G>A	ENST00000520309.1	+	14	2978	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing			46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		ATTTCAAATAGATGTTAAGGA	0.284000																								0							SO:0001583	missense			ENST00000520309.1	1	1	hg19	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810057	0.32053	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412;ENST00000374838	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.87	3.95	0.45737	.	0.323646	0.23347	N	0.049164	T	0.24967	0.0606	L	0.44542	1.39	0.33538	D	0.594462	B	0.13145	0.007	B	0.16289	0.015	T	0.28332	-1.0047	10	0.66056	D	0.02	-26.6452	8.5771	0.33605	0.0923:0.1685:0.7392:0.0	.	40	E9PHS9	.	N	964;964;964;893;739;40	ENSP00000427882:D964N;ENSP00000313513:D964N;ENSP00000397243:D964N;ENSP00000393043:D893N;ENSP00000281412:D739N	ENSP00000281412:D739N	D	+	1	0	ANKAR	190301250	0.460000	0.25776	1.000000	0.80357	0.763000	0.43281	0.868000	0.27982	2.510000	0.84645	0.467000	0.42956	GAT		TCGA-IB-7651-01A-11D-2154-08	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	1	0	1	57	168	0	22	1	8.073817e-01	4	7	0	22	2		0	0	0	0	0	2	1	1	57	161	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMS1	5378	broad.mit.edu	37	2	190728551	190728551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190728551C>T	ENST00000441310.2	+	10	2172	c.1939C>T	c.(1939-1941)Cta>Tta	p.L647L	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000409823.3_Silent_p.L608L|PMS1_ENST00000432292.3_Silent_p.L471L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		ACAAATGTCACTAAAAGATGG	0.358000			Mis, N			colorectal, endometrial, ovarian		Direct reversal of damage;Mismatch excision repair (MMR)						yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0							SO:0001819	synonymous_variant			ENST00000441310.2	1	1	hg19	CCDS2302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2	1	0	1	150	461	0	111	1	9.966406e-01	14	15	0	111	2		0	0	0	0	0	2	1	1	147	450	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMS1	5378	broad.mit.edu	37	2	190742119	190742119	+	Missense_Mutation	SNP	G	G	A	rs147566508	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190742119G>A	ENST00000441310.2	+	13	2989	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	PMS1_ENST00000447232.2_Missense_Mutation_p.R757H|PMS1_ENST00000418224.3_Missense_Mutation_p.R743H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		GTTCATGGTCGCCCATTTTTT	0.328000			Mis, N			colorectal, endometrial, ovarian		Direct reversal of damage;Mismatch excision repair (MMR)						yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0							SO:0001583	missense			ENST00000441310.2	1	1	hg19	CCDS2302.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.78	3.472864	0.63737	4.54E-4	0.0	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593	D;D;D;D;D;D	0.97752	-2.89;-2.69;-3.08;-3.29;-2.69;-4.52	5.76	5.76	0.90799	.	0.101764	0.64402	D	0.000001	D	0.96568	0.8880	L	0.47190	1.495	0.45216	D	0.998228	B;D;D;D;D	0.57257	0.066;0.977;0.979;0.978;0.963	B;P;B;B;B	0.48654	0.01;0.585;0.363;0.299;0.363	D	0.96294	0.9216	10	0.87932	D	0	-6.5663	13.5255	0.61593	0.0713:0.0:0.9287:0.0	.	235;542;880;757;919	Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;PMS1_HUMAN	H	919;743;880;757;743;542	ENSP00000406490:R919H;ENSP00000404492:R743H;ENSP00000387125:R880H;ENSP00000401064:R757H;ENSP00000398378:R743H;ENSP00000387169:R542H	ENSP00000387169:R542H	R	+	2	0	PMS1	190450364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.657000	0.67996	2.882000	0.98803	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2	1	0	1	59	171	0	43	1	9.998606e-01	12	30	0	43	2		0	0	0	0	0	2	1	1	57	170	0	42	2								-20.000000	1	1	121412	1	41	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSTN	2660	broad.mit.edu	37	2	190924940	190924940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190924940C>A	ENST00000260950.4	-	2	727	c.595G>T	c.(595-597)Ggc>Tgc	p.G199C	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin			12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		ATACCAGTGCCTGGGTTCATG	0.408000																								0							SO:0001583	missense			ENST00000260950.4	1	1	hg19	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846205	0.71603	.	.	ENSG00000138379	ENST00000260950	T	0.71817	-0.6	5.76	4.83	0.62350	Transforming growth factor-beta, N-terminal (1);	1.956010	0.03705	U	0.249212	D	0.86121	0.5857	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.73959	-0.3818	10	0.87932	D	0	-9.579	16.2783	0.82656	0.0:0.8676:0.1324:0.0	.	199	O14793	GDF8_HUMAN	C	199	ENSP00000260950:G199C	ENSP00000260950:G199C	G	-	1	0	MSTN	190633185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.668000	0.46816	2.718000	0.92993	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	1	0	1	143	657	0	130	0	0	0	1	0	130	2		0	0	0	0	0	2	1	1	143	642	0	129	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf88	84281	broad.mit.edu	37	2	191064772	191064772	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191064772A>G	ENST00000340623.4	+	2	597	c.186A>G	c.(184-186)gcA>gcG	p.A62A	C2orf88_ENST00000409870.1_Silent_p.A62A|C2orf88_ENST00000443551.2_Silent_p.A62A|C2orf88_ENST00000396974.2_Silent_p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88			3					TGGAATATGCACACCGCCTGT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000340623.4	1	1	hg19	CCDS42792.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	1	0	1	149	818	0	166	1	1	30	224	0	166	2		0	0	0	0	0	2	1	1	147	805	0	166	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPP1	3628	broad.mit.edu	37	2	191224927	191224927	+	Silent	SNP	C	C	T	rs2067404	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191224927C>T	ENST00000322522.4	+	2	555	c.99C>T	c.(97-99)atC>atT	p.I33I	INPP1_ENST00000392329.2_Silent_p.I33I|INPP1_ENST00000541441.1_Silent_p.I33I|INPP1_ENST00000417336.1_3'UTR	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase			11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		AGCTGCTGATCGAAGAAAAGA	0.478000													Melanoma(130;184 1743 2185 19805 38428)											0							SO:0001819	synonymous_variant			ENST00000322522.4	1	0	hg19	CCDS2305.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2	1	0	1	46	268	0	59	1	1	105	212	0	59	2		0	0	0	0	0	2	1	1	46	263	0	59	2								-4.246681	1	1	121412	1050	60	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MFSD6	54842	broad.mit.edu	37	2	191301736	191301736	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191301736G>A	ENST00000392328.1	+	3	1305	c.981G>A	c.(979-981)caG>caA	p.Q327Q	MFSD6_ENST00000281416.7_Silent_p.Q327Q	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6			23					ATGGGTTGCAGCGCATGTGGG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000392328.1	1	1	hg19	CCDS2306.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1	1	0	1	209	577	0	136	1	1	51	91	0	136	2		0	0	0	0	0	2	1	1	207	569	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLS	2744	broad.mit.edu	37	2	191769834	191769834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191769834G>A	ENST00000320717.3	+	6	1178	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase			16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)	L-Glutamine(DB00130)	TATGTGCATCGATATGTTGGA	0.353000																								0							SO:0001583	missense			ENST00000320717.3	1	1	hg19	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490238	0.64074	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.39787	1.06;1.06	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	N	0.03115	-0.41	0.80722	D	1	B;B	0.29531	0.046;0.247	B;B	0.14578	0.01;0.011	T	0.19224	-1.0312	10	0.06494	T	0.89	-9.0891	20.3429	0.98773	0.0:0.0:1.0:0.0	.	307;307	O94925;O94925-3	GLSK_HUMAN;.	Q	307	ENSP00000317379:R307Q;ENSP00000340689:R307Q	ENSP00000317379:R307Q	R	+	2	0	GLS	191478079	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.881000	0.98747	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2	1	0	1	53	239	0	46	1	1	14	185	0	46	2		0	0	0	0	0	2	1	1	52	235	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAT1	6772	broad.mit.edu	37	2	191840588	191840588	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191840588G>A	ENST00000361099.3	-	23	2472	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	STAT1_ENST00000392322.3_Silent_p.G695G|STAT1_ENST00000409465.1_Silent_p.G695G|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.G697G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa			39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		TTCCTTTAGGGCCATCAAGTT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000361099.3	1	1	hg19	CCDS2309.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	1	0	1	51	162	0	36	1	1	484	1854	0	36	2		0	0	0	0	0	2	1	1	50	159	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAT1	6772	broad.mit.edu	37	2	191850364	191850364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191850364G>T	ENST00000361099.3	-	15	1631	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	STAT1_ENST00000392322.3_Missense_Mutation_p.A415D|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa			39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		TCTGGTGCCAGCATTTTTCTG	0.413000																								0							SO:0001583	missense			ENST00000361099.3	1	1	hg19	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904513	0.72868	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.11	5.11	0.69529	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.054833	0.64402	D	0.000001	D	0.89722	0.6797	M	0.69248	2.105	0.80722	D	1	P;P	0.44734	0.842;0.622	P;B	0.51615	0.675;0.222	D	0.90598	0.4542	10	0.87932	D	0	-18.3653	12.9372	0.58322	0.0792:0.0:0.9208:0.0	.	415;415	P42224-2;P42224	.;STAT1_HUMAN	D	415;415;415;417	ENSP00000354394:A415D;ENSP00000386244:A415D;ENSP00000376136:A415D;ENSP00000376137:A417D	ENSP00000354394:A415D	A	-	2	0	STAT1	191558609	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	6.286000	0.72665	2.535000	0.85469	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	1	0	1	74	221	0	42	1	1	347	1197	0	42	2		0	0	0	0	0	2	1	1	73	214	0	42	2								-4.902628	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAT4	6775	broad.mit.edu	37	2	191905836	191905836	+	Silent	SNP	C	C	T	rs145312304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191905836C>T	ENST00000392320.2	-	15	1604	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.T430T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4			42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		GTGTTTCAAACGTTATGGAAT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000392320.2	1	1	hg19	CCDS2310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	1	0	1	125	409	0	85	1	8.425962e-01	2	11	0	85	2		0	0	0	0	0	2	1	1	122	404	0	85	2								-20.000000	1	1	121410	4	42	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1B	4430	broad.mit.edu	37	2	192225372	192225372	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192225372C>A	ENST00000392318.3	+	8	825	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB			55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		TTAGAGAAATCTCGGGTTGTT	0.388000																								0							SO:0001583	missense			ENST00000392318.3	1	1	hg19	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712950	0.89112	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98855	1.0760	10	0.87932	D	0	.	18.0408	0.89318	0.0:1.0:0.0:0.0	.	193;193	O43795;O43795-2	MYO1B_HUMAN;.	Y	193	ENSP00000341903:S193Y;ENSP00000376132:S193Y;ENSP00000306382:S193Y;ENSP00000388140:S193Y;ENSP00000376130:S193Y	ENSP00000306382:S193Y	S	+	2	0	MYO1B	191933617	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.073000	0.76784	2.681000	0.91329	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	1	0	0	54	909	0	164	0	9.881792e-01	0	116	0	164	2		0	0	0	0	0	2	1	1	52	879	0	164	2								-7.955782	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.720000	0.540000	1.000000	0.700000	0.743616	0.720000	0	6.200000e-01	8.600000e-01
MYO1B	4430	broad.mit.edu	37	2	192234334	192234334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192234334C>T	ENST00000392318.3	+	12	1346	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	p.R367*(2)		55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		GTTGGTAAATCGAATCAATGA	0.318000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000392318.3	0	1	hg19	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	37	6.255787	0.97417	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2594	0.54642	0.2139:0.7861:0.0:0.0	.	.	.	.	X	367	.	ENSP00000306382:R367X	R	+	1	2	MYO1B	191942579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.934000	0.48956	2.565000	0.86533	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	1	0	1	39	374	0	57	0	9.998149e-01	0	125	0	57	2		0	0	0	0	0	2	1	1	37	367	0	57	2								-3.221883	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.870000	1.000000	1.000000	0.991607	0.990000	1	9.900000e-01	1
MYO1B	4430	broad.mit.edu	37	2	192267420	192267420	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192267420T>G	ENST00000392318.3	+	24	2779	c.2532T>G	c.(2530-2532)atT>atG	p.I844M	MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M|MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000339514.4_Intron	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB			55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		TTGCTGTCATTTGGGCTTACT	0.448000																								0							SO:0001583	missense			ENST00000392318.3	1	1	hg19	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314215	0.81358	.	.	ENSG00000128641	ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;T;T	0.88354	-2.37;-2.37;-1.28;-1.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	N	0.08118	0	0.54753	D	0.999982	D;D	0.59357	0.985;0.98	P;D	0.66979	0.724;0.948	D	0.90115	0.4195	10	0.56958	D	0.05	.	14.5673	0.68185	0.0:0.0:0.0:1.0	.	89;844	E7EPB4;O43795	.;MYO1B_HUMAN	M	844;844;815;89	ENSP00000376132:I844M;ENSP00000306382:I844M;ENSP00000376130:I815M;ENSP00000391442:I89M	ENSP00000306382:I844M	I	+	3	3	MYO1B	191975665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.628000	0.67791	2.180000	0.69256	0.459000	0.35465	ATT		TCGA-IB-7651-01A-11D-2154-08	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	0	0	1	51	116	0	24	1	9.999807e-01	2	40	0	24	2		0	0	0	0	0	2	1	1	52	112	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1B	4430	broad.mit.edu	37	2	192288586	192288586	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192288586A>G	ENST00000392318.3	+	31	3558	c.3311A>G	c.(3310-3312)gAc>gGc	p.D1104G	MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G|MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G|MYO1B_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB			55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		TTCAGACAGGACAAAGTATGT	0.358000																								0							SO:0001583	missense			ENST00000392318.3	0	1	hg19	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225845	0.39300	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.78	5.78	0.91487	Myosin tail 2 (1);	0.048029	0.85682	D	0.000000	T	0.29093	0.0723	N	0.16166	0.38	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.006;0.003	D;B;B	0.91635	0.999;0.012;0.007	T	0.05784	-1.0864	10	0.02654	T	1	.	14.6915	0.69091	1.0:0.0:0.0:0.0	.	349;1104;1046	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	G	1046;1104;1104;1075;349	ENSP00000341903:D1046G;ENSP00000376132:D1104G;ENSP00000306382:D1104G;ENSP00000376130:D1075G;ENSP00000391442:D349G	ENSP00000306382:D1104G	D	+	2	0	MYO1B	191996831	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	8.458000	0.90364	2.205000	0.71048	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	0	0	0	15	651	0	98	1	9.563735e-01	3	227	0	98	2		0	0	0	0	0	2	1	9.998460e-01	15	635	0	97	2								-2.951106	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.300000	0.160000	1.000000	0.290000	0.363658	0.300000	0	2.200000e-01	4.100000e-01
MYT1L	23040	broad.mit.edu	37	2	1926559	1926559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926559C>A	ENST00000399161.2	-	10	1729	c.982G>T	c.(982-984)Gag>Tag	p.E328*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like			97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)			CTCAAACACTCCAGACTGCTC	0.512000																								0							SO:0001587	stop_gained			ENST00000399161.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	44	10.777064	0.99466	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.75	4.88	0.63580	.	0.056711	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-42.0681	14.6267	0.68626	0.0:0.9303:0.0:0.0697	.	.	.	.	X	328;276;328	.	ENSP00000295067:E276X	E	-	1	0	MYT1L	1905566	1.000000	0.71417	0.984000	0.44739	0.651000	0.38670	7.685000	0.84117	1.442000	0.47568	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	0	116	330	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	113	310	0	70	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYT1L	23040	broad.mit.edu	37	2	1926671	1926671	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926671C>T	ENST00000399161.2	-	10	1617	c.870G>A	c.(868-870)tcG>tcA	p.S290S	MYT1L_ENST00000428368.2_Silent_p.S290S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like			97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)			TGTCTTGCTGCGACATGCTGT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000399161.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	1	136	870	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1	134	855	0	156	2								-20.000000	1	1	121032	6	42	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDPR	8436	broad.mit.edu	37	2	192711348	192711348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711348T>C	ENST00000304141.4	-	1	633	c.304A>G	c.(304-306)Aag>Gag	p.K102E	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response			23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		GCCTGGTACTTGGAGAGCTTG	0.597000																								0							SO:0001583	missense			ENST00000304141.4	1	1	hg19	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188182	0.57909	.	.	ENSG00000168497	ENST00000304141	T	0.64991	-0.13	4.62	3.46	0.39613	.	0.135593	0.48767	N	0.000174	T	0.62816	0.2459	M	0.77313	2.365	0.42605	D	0.993296	P	0.38827	0.649	B	0.41510	0.359	T	0.65043	-0.6264	10	0.72032	D	0.01	-26.7125	7.3259	0.26555	0.0:0.0811:0.1555:0.7634	.	102	O95810	SDPR_HUMAN	E	102	ENSP00000305675:K102E	ENSP00000305675:K102E	K	-	1	0	SDPR	192419593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.051000	0.57412	0.904000	0.36572	0.397000	0.26171	AAG		TCGA-IB-7651-01A-11D-2154-08	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	1	0	1	46	234	0	45	0	9.983281e-01	0	52	0	45	2		0	0	0	0	0	2	1	1	44	228	0	45	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDPR	8436	broad.mit.edu	37	2	192711440	192711440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711440G>T	ENST00000304141.4	-	1	541	c.212C>A	c.(211-213)gCt>gAt	p.A71D	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response			23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		CTCCTGCACAGCGTCTAGCAT	0.567000																								0							SO:0001583	missense			ENST00000304141.4	1	1	hg19	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013014	0.35511	.	.	ENSG00000168497	ENST00000304141	T	0.59772	0.24	4.62	2.81	0.32909	.	0.896645	0.09759	N	0.759491	T	0.53158	0.1779	M	0.61703	1.905	0.09310	N	1	P	0.42203	0.773	B	0.36766	0.232	T	0.40646	-0.9552	10	0.49607	T	0.09	-2.8248	10.7159	0.46013	0.1554:0.0:0.8446:0.0	.	71	O95810	SDPR_HUMAN	D	71	ENSP00000305675:A71D	ENSP00000305675:A71D	A	-	2	0	SDPR	192419685	0.276000	0.24211	0.431000	0.26735	0.965000	0.64279	3.132000	0.50523	0.674000	0.31244	0.484000	0.47621	GCT		TCGA-IB-7651-01A-11D-2154-08	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	1	0	1	82	253	0	50	0	9.999986e-01	0	64	0	50	2		0	0	0	0	0	2	1	1	81	246	0	50	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSR1	130497	broad.mit.edu	37	2	19553022	19553022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:19553022C>T	ENST00000272223.2	-	2	889	c.545G>A	c.(544-546)cGc>cAc	p.R182H	OSR1_ENST00000536433.1_Missense_Mutation_p.R182H	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1			8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)			GGTGAAGTGGCGGCCACAGAA	0.567000																								0							SO:0001583	missense			ENST00000272223.2	1	1	hg19	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914406	0.92178	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.03920	3.76;3.76	5.68	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	M	0.75615	2.305	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.00051	-1.2195	9	.	.	.	-30.0324	13.7771	0.63059	0.0:0.9258:0.0:0.0742	.	182	Q8TAX0	OSR1_HUMAN	H	182	ENSP00000272223:R182H;ENSP00000441801:R182H	.	R	-	2	0	OSR1	19416503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.058000	0.71126	2.685000	0.91497	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	1	0	0	61	632	0	96	0	9.418253e-02	0	6	0	96	2		0	0	0	0	0	2	1	1	60	611	0	92	2								-1.976371	0	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.870000	1.000000	1.000000	0.989072	0.990000	1	9.900000e-01	1
DNAH7	56171	broad.mit.edu	37	2	196741347	196741347	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196741347G>T	ENST00000312428.6	-	37	6138	c.6038C>A	c.(6037-6039)gCt>gAt	p.A2013D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7			205					CTGAGTTTGAGCTGCTGTAGT	0.323000																								0							SO:0001583	missense			ENST00000312428.6	1	1	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298407	0.60195	.	.	ENSG00000118997	ENST00000312428	T	0.43688	0.94	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);	0.055211	0.64402	D	0.000001	T	0.50411	0.1614	L	0.58510	1.815	0.80722	D	1	B	0.29270	0.24	B	0.39771	0.309	T	0.40720	-0.9548	10	0.36615	T	0.2	.	19.28	0.94050	0.0:0.0:1.0:0.0	.	2013	Q8WXX0	DYH7_HUMAN	D	2013	ENSP00000311273:A2013D	ENSP00000311273:A2013D	A	-	2	0	DNAH7	196449592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.890000	0.99128	0.585000	0.79938	GCT		TCGA-IB-7651-01A-11D-2154-08	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	1	0	0	38	440	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	1	37	435	0	65	2								-3.318794	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.730000	1.000000	1.000000	0.952461	0.990000	1	8.600000e-01	1
DNAH7	56171	broad.mit.edu	37	2	196746544	196746544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746544C>T	ENST00000312428.6	-	36	6036	c.5936G>A	c.(5935-5937)gGa>gAa	p.G1979E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7			205					TTTCCCAGTTCCTGTTGGTCC	0.368000																								0							SO:0001583	missense			ENST00000312428.6	1	1	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506106	0.85282	.	.	ENSG00000118997	ENST00000312428	D	0.90620	-2.7	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98479	1.0604	10	0.87932	D	0	.	18.2971	0.90150	0.0:1.0:0.0:0.0	.	1979	Q8WXX0	DYH7_HUMAN	E	1979	ENSP00000311273:G1979E	ENSP00000311273:G1979E	G	-	2	0	DNAH7	196454789	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.237000	0.78164	2.665000	0.90641	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	0	1	85	505	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	1	82	494	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH7	56171	broad.mit.edu	37	2	196746672	196746672	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746672A>G	ENST00000312428.6	-	36	5908	c.5808T>C	c.(5806-5808)gcT>gcC	p.A1936A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7			205					GAATTGGAGGAGCTTCTTTCA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000312428.6	0	1	hg19	CCDS42794.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	0	1	44	288	1	53		0	0	0	1	53	2		0	0	0	0	0	2	1	9.994696e-01	43	286	1	53	20								-19.172830	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
DNAH7	56171	broad.mit.edu	37	2	196788367	196788367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196788367G>A	ENST00000312428.6	-	23	3877	c.3777C>T	c.(3775-3777)agC>agT	p.S1259S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7			205					CAGAGTCATCGCTAATATTTT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000312428.6	1	1	hg19	CCDS42794.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	1	0	1	51	277	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	51	274	0	74	2								-19.999980	1	1	120860	2	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW2	57520	broad.mit.edu	37	2	197143304	197143304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197143304G>A	ENST00000260983.3	-	15	3265	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	HECW2_ENST00000409111.1_Missense_Mutation_p.A672V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					ATGAACCAGCGCACTTGTGGG	0.537000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320375	0.23994	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84298	-1.83;-1.83	5.28	5.28	0.74379	.	0.129557	0.53938	D	0.000045	T	0.68943	0.3056	N	0.14661	0.345	0.42479	D	0.992858	P	0.43938	0.822	B	0.30716	0.119	T	0.71922	-0.4446	10	0.28530	T	0.3	.	13.9925	0.64376	0.0:0.0:0.8487:0.1513	.	1028	Q9P2P5	HECW2_HUMAN	V	672;1028	ENSP00000386775:A672V;ENSP00000260983:A1028V	ENSP00000260983:A1028V	A	-	2	0	HECW2	196851549	1.000000	0.71417	0.565000	0.28409	0.083000	0.17756	5.769000	0.68865	2.745000	0.94114	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	0	18	352	0	79	0	1.078672e-01	0	11	0	79	2		0	0	0	0	0	2	1	9.999803e-01	18	345	0	79	2								-4.761495	1	1	121412	2	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.640000	0.380000	1.000000	0.610000	0.671633	0.640000	0	5.000000e-01	8.500000e-01
HECW2	57520	broad.mit.edu	37	2	197157417	197157417	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197157417G>A	ENST00000260983.3	-	14	3054	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	RN7SL820P_ENST00000583941.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.R602W	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					GTGTCCCTCCGGACTTTGGTG	0.493000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771237	0.90108	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85339	-1.97;-1.97	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91818	0.5465	10	0.87932	D	0	.	18.5859	0.91189	0.0:0.0:1.0:0.0	.	958	Q9P2P5	HECW2_HUMAN	W	602;958	ENSP00000386775:R602W;ENSP00000260983:R958W	ENSP00000260983:R958W	R	-	1	2	HECW2	196865662	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.238000	0.95380	2.617000	0.88574	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1	50	255	0	48	0	3.286817e-01	0	7	0	48	2		0	0	0	0	0	2	1	1	49	251	0	47	2								-2.947956	1	1	121412	1	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW2	57520	broad.mit.edu	37	2	197183767	197183767	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197183767G>T	ENST00000260983.3	-	9	2029	c.1847C>A	c.(1846-1848)cCc>cAc	p.P616H	HECW2_ENST00000409111.1_Missense_Mutation_p.P260H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					AGGATCACTGGGTTCTGTTTC	0.587000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516234	0.44763	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32515	1.45;1.46	5.4	5.4	0.78164	.	1.163250	0.06052	N	0.656663	T	0.27798	0.0684	N	0.14661	0.345	0.39650	D	0.970454	D	0.52996	0.957	P	0.45998	0.5	T	0.04767	-1.0928	10	0.38643	T	0.18	.	13.4478	0.61151	0.0:0.0:0.8336:0.1664	.	616	Q9P2P5	HECW2_HUMAN	H	260;616	ENSP00000386775:P260H;ENSP00000260983:P616H	ENSP00000260983:P616H	P	-	2	0	HECW2	196892012	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.361000	0.52306	2.813000	0.96785	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1	63	140	0	38	0	8.962761e-01	0	11	0	38	2		0	0	0	0	0	2	1	1	60	138	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW2	57520	broad.mit.edu	37	2	197184558	197184558	+	Silent	SNP	G	G	A	rs61752163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197184558G>A	ENST00000260983.3	-	9	1238	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					CCTCGTCATCGGAAGGGCTAC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000260983.3	1	1	hg19	CCDS33354.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1	56	274	0	55	0	4.100271e-01	0	8	0	55	2		0	0	0	0	0	2	1	1	55	270	0	55	2								-2.847558	1	1	121412	1	40	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW2	57520	broad.mit.edu	37	2	197297957	197297957	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197297957C>T	ENST00000260983.3	-	2	373	c.191G>A	c.(190-192)aGc>aAc	p.S64N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					CTCGTACATGCTGGCAGTTAA	0.547000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915329	0.92178	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.40756	1.02;1.02;1.02	5.27	5.27	0.74061	.	0.105732	0.64402	D	0.000003	T	0.65606	0.2707	M	0.76328	2.33	0.48288	D	0.999629	P	0.49090	0.919	D	0.64321	0.924	T	0.67875	-0.5557	10	0.87932	D	0	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	64	Q9P2P5	HECW2_HUMAN	N	64	ENSP00000260983:S64N;ENSP00000409918:S64N;ENSP00000395770:S64N	ENSP00000260983:S64N	S	-	2	0	HECW2	197006202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.216000	0.72212	2.736000	0.93811	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1	127	329	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	1	126	325	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW2	57520	broad.mit.edu	37	2	197298094	197298094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197298094C>A	ENST00000260983.3	-	2	236	c.54G>T	c.(52-54)caG>caT	p.Q18H		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					TGTACCGCATCTGGGGATTTC	0.592000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	8.308	0.821395	0.16678	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.35973	1.28;1.28;1.28	5.27	3.43	0.39272	.	0.219450	0.41001	N	0.000968	T	0.17746	0.0426	N	0.08118	0	0.29858	N	0.827875	B	0.02656	0.0	B	0.04013	0.001	T	0.09465	-1.0673	10	0.38643	T	0.18	.	8.2327	0.31608	0.1562:0.7657:0.0:0.0782	.	18	Q9P2P5	HECW2_HUMAN	H	18	ENSP00000260983:Q18H;ENSP00000409918:Q18H;ENSP00000395770:Q18H	ENSP00000260983:Q18H	Q	-	3	2	HECW2	197006339	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.697000	0.37784	0.758000	0.33059	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	0	0	0	13	443	0	58	0	2.927340e-03	0	3	0	58	2		0	0	0	0	0	2	1	9.994513e-01	12	431	0	57	2								-11.944720	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.380000	0.200000	1.000000	0.360000	0.438716	0.380000	0	2.800000e-01	5.400000e-01
CCDC150	284992	broad.mit.edu	37	2	197596779	197596779	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197596779C>A	ENST00000389175.4	+	27	3227	c.3092C>A	c.(3091-3093)gCt>gAt	p.A1031D	CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D|CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150			33					CTGGAAGAAGCTCATCGCTGG	0.393000																								0							SO:0001583	missense			ENST00000389175.4	1	1	hg19	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769785	0.31320	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.57907	0.37	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000020	T	0.67011	0.2848	L	0.50333	1.59	0.80722	D	1	D;P	0.89917	1.0;0.865	D;B	0.87578	0.998;0.301	T	0.65928	-0.6049	10	0.48119	T	0.1	-6.3465	15.6931	0.77469	0.0:1.0:0.0:0.0	.	678;1031	B4DZ03;Q8NCX0	.;CC150_HUMAN	D	678;1031;518	ENSP00000373827:A1031D	ENSP00000272831:A678D	A	+	2	0	CCDC150	197305024	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	2.822000	0.48073	2.679000	0.91253	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	1	0	1	70	205	0	68	1	2.731228e-01	3	1	0	68	2		0	0	0	0	0	2	1	1	69	202	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTF3C3	9330	broad.mit.edu	37	2	197631301	197631301	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197631301T>C	ENST00000263956.3	-	17	2615	c.2526A>G	c.(2524-2526)ccA>ccG	p.P842P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa			33					CTACCACAAGTGGAGGGAGCT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000263956.3	1	1	hg19	CCDS2316.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1	0	0	0	15	401	0	79	1	9.012986e-01	7	103	0	79	2		0	0	0	0	0	2	1	9.998725e-01	15	399	0	78	2								-14.871960	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.480000	0.270000	1.000000	0.460000	0.526622	0.480000	0	3.600000e-01	6.600000e-01
GTF3C3	9330	broad.mit.edu	37	2	197654005	197654005	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197654005A>G	ENST00000263956.3	-	6	905	c.816T>C	c.(814-816)gaT>gaC	p.D272D	GTF3C3_ENST00000409364.3_Silent_p.D272D|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa			33					GCCTATAACCATCCATGGCCA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000263956.3	1	1	hg19	CCDS2316.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1	1	0	1	90	231	0	42	1	9.999999e-01	27	38	0	42	2		0	0	0	0	0	2	1	1	88	231	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf66	401027	broad.mit.edu	37	2	197672174	197672174	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197672174T>C	ENST00000342506.2	-	2	1235	c.347A>G	c.(346-348)aAa>aGa	p.K116R		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66			9					CTTTCAGCCTTTGAGATAATT	0.378000																								0							SO:0001583	missense			ENST00000342506.2	0	1	hg19	CCDS2317.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294898	0.23564	.	.	ENSG00000187944	ENST00000342506	.	.	.	4.62	-0.661	0.11417	.	0.528444	0.17118	N	0.186352	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.20174	-1.0283	9	0.24483	T	0.36	-0.8599	5.9745	0.19371	0.0:0.3126:0.1355:0.5519	.	116	Q6UXQ4	CB066_HUMAN	R	116	.	ENSP00000339384:K116R	K	-	2	0	C2orf66	197380419	0.241000	0.23857	0.245000	0.24217	0.299000	0.27559	0.232000	0.17891	-0.011000	0.14247	-0.374000	0.07098	AAA		TCGA-IB-7651-01A-11D-2154-08	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	0	0	0	10	400	0	88	0	7.757587e-04	0	2	0	88	2		0	0	0	0	0	2	1	9.966847e-01	10	393	0	86	2								-9.852347	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.330000	0.160000	1.000000	0.310000	0.394192	0.330000	0	2.300000e-01	4.900000e-01
PGAP1	80055	broad.mit.edu	37	2	197767389	197767389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197767389C>A	ENST00000354764.4	-	5	841	c.727G>T	c.(727-729)Gga>Tga	p.G243*	PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1			40					TCCCGGAATCCTCCAGCTACA	0.363000																								0							SO:0001587	stop_gained			ENST00000354764.4	0	1	hg19	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947838	0.97134	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3279	18.3984	0.90507	0.0:1.0:0.0:0.0	.	.	.	.	X	243;243;201	.	ENSP00000346809:G243X	G	-	1	0	PGAP1	197475634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.144000	0.64832	2.573000	0.86826	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	1	0	0	17	406	0	48	0	6.629226e-02	0	10	0	48	2		0	0	0	0	0	2	1	9.999619e-01	17	399	0	48	2								-2.707273	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.530000	0.310000	1.000000	0.500000	0.573269	0.530000	0	4.100000e-01	7.100000e-01
HSPD1	3329	broad.mit.edu	37	2	198361910	198361910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198361910G>A	ENST00000388968.3	-	3	648	c.381C>T	c.(379-381)ggC>ggT	p.G127G	HSPD1_ENST00000345042.2_Silent_p.G127G|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000544407.1_Silent_p.G127G|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)			17			Epithelial(96;0.225)		TCTTCTCGAAGCCTTCCTTGG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000388968.3	1	1	hg19	CCDS33357.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	1	0	1	81	379	0	76	1	1	288	940	0	76	2		0	0	0	0	0	2	1	1	80	369	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPD1	3329	broad.mit.edu	37	2	198363459	198363459	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363459G>T	ENST00000388968.3	-	2	381	c.114C>A	c.(112-114)gcC>gcA	p.A38A	HSPD1_ENST00000345042.2_Silent_p.A38A|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000544407.1_Silent_p.A38A|HSPE1_ENST00000409468.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	p.A38A(1)		17			Epithelial(96;0.225)		GAAGCATTAAGGCTCGGGCAT	0.458000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000388968.3	0	1	hg19	CCDS33357.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	1	0	0	20	502	0	128	0	1	0	1121	0	128	2		0	0	0	0	0	2	1	9.999731e-01	7	428	0	126	2								-3.571436	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.500000	0.310000	1.000000	0.490000	0.547957	0.500000	0	3.900000e-01	6.600000e-01
HSPD1	3329	broad.mit.edu	37	2	198363569	198363569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363569G>A	ENST00000388968.3	-	2	271	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F|HSPE1_ENST00000409468.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)			17			Epithelial(96;0.225)		GGTAACCGAAGCATTTCTGGG	0.512000																								0							SO:0001583	missense			ENST00000388968.3	1	1	hg19	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962992	0.53507	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605;ENST00000418022	T;T;T;T;T;T;T;T;T	0.77358	-0.45;-0.45;-0.1;-0.1;-0.1;-0.83;-1.07;-1.07;-1.09	4.87	4.87	0.63330	.	0.059874	0.64402	D	0.000002	T	0.59824	0.2222	N	0.04724	-0.175	0.53688	D	0.999974	B;B;B;B	0.13145	0.007;0.001;0.001;0.002	B;B;B;B	0.15052	0.012;0.005;0.005;0.003	T	0.55866	-0.8073	10	0.15952	T	0.53	-4.9447	18.3608	0.90374	0.0:0.0:1.0:0.0	.	2;2;2;2	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	F	2;2;2;2;2;44;2;2;2	ENSP00000373620:L2F;ENSP00000340019:L2F;ENSP00000393670:L2F;ENSP00000412717:L2F;ENSP00000441296:L2F;ENSP00000414446:L44F;ENSP00000396460:L2F;ENSP00000402478:L2F;ENSP00000412227:L2F	ENSP00000340019:L2F	L	-	1	0	HSPD1	198071814	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.311000	0.72835	2.414000	0.81942	0.585000	0.79938	CTT		TCGA-IB-7651-01A-11D-2154-08	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	0	0	1	37	174	1	45	1	1	305	757	1	45	58		0	0	0	0	0	2	1	1	36	172	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFTN2	130132	broad.mit.edu	37	2	198460774	198460774	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460774T>C	ENST00000295049.4	-	8	1710	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2			30					ACGATCTGCTTTGTAGCCAAA	0.328000																								0							SO:0001583	missense			ENST00000295049.4	1	1	hg19	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085166	0.36758	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.43688	0.94;0.94	5.34	4.16	0.48862	.	0.277824	0.40222	N	0.001152	T	0.61375	0.2342	M	0.74647	2.275	0.44995	D	0.99801	D	0.89917	1.0	D	0.85130	0.997	T	0.64007	-0.6508	10	0.87932	D	0	-24.6818	9.6555	0.39923	0.1552:0.0:0.0:0.8448	.	392	Q52LD8	RFTN2_HUMAN	E	392;74	ENSP00000295049:K392E;ENSP00000387459:K74E	ENSP00000295049:K392E	K	-	1	0	RFTN2	198169019	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	4.844000	0.62846	1.126000	0.42016	-0.344000	0.07964	AAG		TCGA-IB-7651-01A-11D-2154-08	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	1	0	1	38	218	0	55	0	7.679959e-01	0	18	0	55	2		0	0	0	0	0	2	1	1	38	218	0	54	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
RFTN2	130132	broad.mit.edu	37	2	198511301	198511301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198511301C>T	ENST00000295049.4	-	2	765	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2			30					TGAATAGCCCCGACAATATAT	0.378000																								0							SO:0001583	missense			ENST00000295049.4	1	1	hg19	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442193	0.83993	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.32023	1.47;1.47	5.39	4.5	0.54988	.	0.474569	0.23536	N	0.047134	T	0.47358	0.1441	L	0.51422	1.61	0.39911	D	0.974022	D	0.89917	1.0	D	0.72338	0.977	T	0.47315	-0.9127	10	0.87932	D	0	-13.4825	12.182	0.54218	0.0:0.9205:0.0:0.0795	.	77	Q52LD8	RFTN2_HUMAN	R	77	ENSP00000295049:G77R;ENSP00000398128:G77R	ENSP00000295049:G77R	G	-	1	0	RFTN2	198219546	0.387000	0.25188	0.999000	0.59377	0.943000	0.58893	2.256000	0.43231	2.687000	0.91594	0.585000	0.79938	GGG		TCGA-IB-7651-01A-11D-2154-08	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	0	0	0	14	430	0	80	0	1.825304e-01	0	23	0	80	2		0	0	0	0	0	2	1	9.997166e-01	14	419	0	77	2								-2.191049	0	1	121412	4	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.420000	0.230000	1.000000	0.400000	0.473707	0.420000	0	3.100000e-01	5.800000e-01
RFTN2	130132	broad.mit.edu	37	2	198540075	198540075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198540075G>A	ENST00000295049.4	-	1	644	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2			30					ATACATATTCGTAAGCAAATT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000295049.4	1	1	hg19	CCDS2323.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	1	0	0	60	683	1	123	0	1.950888e-01	0	10	1	123	2		0	0	0	0	0	2	1	9.999987e-01	59	668	1	122	20								-13.878970	1	1	121412	1	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.790000	1.000000	1.000000	0.967245	0.990000	1	9.000000e-01	1
MARS2	92935	broad.mit.edu	37	2	198570573	198570573	+	Silent	SNP	G	G	A	rs138238210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198570573G>A	ENST00000282276.6	+	1	487	c.444G>A	c.(442-444)caG>caA	p.Q148Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial			22				L-Methionine(DB00134)	TGGCTGTGCAGCACTTCTGGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000282276.6	1	1	hg19	CCDS33358.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	0	0	1	143	357	0	87	1	9.993316e-01	12	18	0	87	2		0	0	0	0	0	2	1	1	136	352	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCL1	5334	broad.mit.edu	37	2	198949647	198949647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198949647G>A	ENST00000428675.1	+	2	1804	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	p.R371Q(1)		80				Quinacrine(DB01103)	GTTTCCTTTCGAAGTGTCATA	0.403000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000428675.1	1	1	hg19	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414630	0.25465	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.65178	-0.14;-0.14	5.94	1.98	0.26296	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.650704	0.14405	N	0.321604	T	0.46073	0.1374	L	0.48642	1.525	0.42717	D	0.993666	B;B	0.32604	0.377;0.254	B;B	0.28232	0.087;0.055	T	0.23619	-1.0183	9	.	.	.	.	2.9874	0.05972	0.2537:0.1133:0.5166:0.1164	.	469;395	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	469;371	ENSP00000402861:R469Q;ENSP00000414138:R371Q	.	R	+	2	0	PLCL1	198657892	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	2.506000	0.45433	0.083000	0.17047	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1	51	165	0	35	0	3.432192e-01	0	5	0	35	2		0	0	0	0	0	2	1	1	50	163	0	35	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCL1	5334	broad.mit.edu	37	2	198950755	198950755	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950755C>T	ENST00000428675.1	+	2	2912	c.2514C>T	c.(2512-2514)caC>caT	p.H838H	PLCL1_ENST00000437704.2_Silent_p.H740H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	p.H740H(2)|p.H838H(1)		80				Quinacrine(DB01103)	TCATGGAGCACGTAACCCTTT	0.458000																								3	Substitution - coding silent(3)						SO:0001819	synonymous_variant			ENST00000428675.1	1	1	hg19	CCDS2326.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1	99	261	0	63	0	9.276471e-01	0	14	0	63	2		0	0	0	0	0	2	1	1	99	254	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCL1	5334	broad.mit.edu	37	2	198950910	198950910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950910C>T	ENST00000428675.1	+	2	3067	c.2669C>T	c.(2668-2670)gCg>gTg	p.A890V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1			80				Quinacrine(DB01103)	TTTAAAATAGCGGTTCATCCA	0.423000																								0							SO:0001583	missense			ENST00000428675.1	1	1	hg19	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234223	0.79688	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.22539	1.95;2.01	5.41	5.41	0.78517	.	0.089994	0.48767	D	0.000176	T	0.45558	0.1348	M	0.83012	2.62	0.80722	D	1	D;D	0.69078	0.997;0.989	P;P	0.55055	0.767;0.593	T	0.44498	-0.9324	9	.	.	.	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	890;816	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	890;792	ENSP00000402861:A890V;ENSP00000414138:A792V	.	A	+	2	0	PLCL1	198659155	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.641000	0.83368	2.814000	0.96858	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1	47	199	0	42	0	7.774542e-01	0	14	0	42	2		0	0	0	0	0	2	1	1	45	197	0	41	2								-3.531216	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCL1	5334	broad.mit.edu	37	2	198968628	198968628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198968628G>A	ENST00000428675.1	+	5	3471	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1			80				Quinacrine(DB01103)	CAAAGCAACTGAGAGCTTTGC	0.408000																								0							SO:0001583	missense			ENST00000428675.1	1	1	hg19	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031692	0.93575	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.25912	1.77;1.87	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.53158	0.1779	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.987	T	0.52902	-0.8513	9	.	.	.	.	17.572	0.87937	0.0:0.0:1.0:0.0	.	1025;951	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	1025;927	ENSP00000402861:E1025K;ENSP00000414138:E927K	.	E	+	1	0	PLCL1	198676873	1.000000	0.71417	0.967000	0.41034	0.949000	0.60115	8.595000	0.90840	2.679000	0.91253	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1	58	198	0	38	0	9.562084e-01	0	20	0	38	2		0	0	0	0	0	2	1	1	59	196	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCL1	5334	broad.mit.edu	37	2	199011668	199011668	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:199011668G>A	ENST00000428675.1	+	6	3668	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	PLCL1_ENST00000437704.2_Silent_p.E992E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1			80				Quinacrine(DB01103)	AAAGTAGTGAGGAGAATGGGA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000428675.1	1	1	hg19	CCDS2326.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	1	0	1	31	148	0	42	0	8.403877e-01	0	18	0	42	2		0	0	0	0	0	2	1	1	30	146	0	40	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SATB2	23314	broad.mit.edu	37	2	200137033	200137033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137033G>A	ENST00000417098.1	-	11	2919	c.2103C>T	c.(2101-2103)aaC>aaT	p.N701N	SATB2_ENST00000443023.1_Silent_p.N642N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000260926.5_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2			62					CCTCGCTGTCGTTCTCCTCTG	0.552000													Colon(30;262 767 11040 24421 36230)											0							SO:0001819	synonymous_variant			ENST00000417098.1	1	1	hg19	CCDS2327.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	1	0	1	115	496	0	82	1	9.941512e-01	8	28	0	82	2		0	0	0	0	0	2	1	1	114	484	0	80	2								-20.000000	1	1	121412	4	40	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SATB2	23314	broad.mit.edu	37	2	200137137	200137137	+	Missense_Mutation	SNP	G	G	A	rs139677384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137137G>A	ENST00000417098.1	-	11	2815	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	SATB2_ENST00000443023.1_Missense_Mutation_p.R608W|SATB2_ENST00000457245.1_Missense_Mutation_p.R667W|SATB2_ENST00000260926.5_Missense_Mutation_p.R667W|SATB2_ENST00000428695.1_Missense_Mutation_p.R549W	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2			62					ACGTGGTACCGCTGGTTCTGG	0.562000													Colon(30;262 767 11040 24421 36230)											0							SO:0001583	missense			ENST00000417098.1	0	1	hg19	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827751	0.71143	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51	5.5	2.55	0.30701	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.98188	1.0461	10	0.87932	D	0	-17.9892	14.6014	0.68443	0.0:0.0:0.6084:0.3916	.	549;667	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	W	667;608;667;549;667	ENSP00000401112:R667W;ENSP00000388764:R608W;ENSP00000260926:R667W;ENSP00000388581:R549W;ENSP00000405420:R667W	ENSP00000260926:R667W	R	-	1	2	SATB2	199845382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.612000	0.61169	0.294000	0.22547	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	0	0	0	16	646	0	95	1	1.989488e-01	3	29	0	95	2		0	0	0	0	0	2	1	9.999253e-01	15	638	0	94	2								-2.526034	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.320000	0.180000	1.000000	0.310000	0.382578	0.320000	0	2.400000e-01	4.400000e-01
SATB2	23314	broad.mit.edu	37	2	200137187	200137187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137187G>A	ENST00000417098.1	-	11	2765	c.1949C>T	c.(1948-1950)gCt>gTt	p.A650V	SATB2_ENST00000443023.1_Missense_Mutation_p.A591V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000260926.5_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2			62					ATCCAGCTGAGCCGAAAGAGT	0.542000													Colon(30;262 767 11040 24421 36230)											0							SO:0001583	missense			ENST00000417098.1	1	1	hg19	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698599	0.88830	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.983;0.992	D	0.97639	1.0147	10	0.72032	D	0.01	-14.0989	19.762	0.96323	0.0:0.0:1.0:0.0	.	532;650	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	V	650;591;650;532;650	ENSP00000401112:A650V;ENSP00000388764:A591V;ENSP00000260926:A650V;ENSP00000388581:A532V;ENSP00000405420:A650V	ENSP00000260926:A650V	A	-	2	0	SATB2	199845432	1.000000	0.71417	0.341000	0.25589	0.936000	0.57629	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	1	0	1	89	472	0	95	1	9.403024e-01	5	22	0	95	2		0	0	0	0	0	2	1	1	86	465	0	93	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SATB2	23314	broad.mit.edu	37	2	200173513	200173513	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200173513G>A	ENST00000417098.1	-	10	2526	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	SATB2_ENST00000443023.1_Silent_p.H511H|SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000260926.5_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	p.H570H(2)		62					GCTGGACCACGTGTTGCATGC	0.607000													Colon(30;262 767 11040 24421 36230)											2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000417098.1	1	1	hg19	CCDS2327.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	1	0	0	110	524	0	98	1	8.827914e-01	5	15	0	98	2		0	0	0	0	0	2	1	1	110	515	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf69	205327	broad.mit.edu	37	2	200790131	200790131	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200790131C>T	ENST00000319974.5	+	2	863	c.680C>T	c.(679-681)aCg>aTg	p.T227M	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69			11					TCTCATACTACGAATGGTTGC	0.368000																								0							SO:0001583	missense			ENST00000319974.5	1	1	hg19	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117427	0.56505	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.32	4.45	0.53987	.	0.377447	0.20781	N	0.085794	T	0.65811	0.2727	L	0.39898	1.24	0.37250	D	0.906511	D	0.76494	0.999	D	0.63033	0.91	T	0.72890	-0.4155	9	0.72032	D	0.01	-9.0066	14.2091	0.65753	0.0:0.816:0.184:0.0	.	227	Q8N8R5	CB069_HUMAN	M	227	.	ENSP00000312770:T227M	T	+	2	0	C2orf69	200498376	0.816000	0.29132	0.993000	0.49108	0.959000	0.62525	2.848000	0.48278	1.467000	0.48044	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	1	0	1	25	281	0	68	1	9.924596e-01	13	76	0	68	2		0	0	0	0	0	2	1	9.999998e-01	25	275	0	68	2								-8.781776	1	1	120796	3	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.700000	1.000000	1.000000	0.952124	0.990000	1	8.600000e-01	1
C2orf47	79568	broad.mit.edu	37	2	200824039	200824039	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200824039T>C	ENST00000392290.1	+	2	695	c.499T>C	c.(499-501)Ttg>Ctg	p.L167L	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Silent_p.L167L			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47			9					ATTTGATCTGTTGGAAGAACT	0.308000																								0							SO:0001819	synonymous_variant			ENST00000392290.1	1	1	hg19	CCDS2329.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	0	0	0	14	493	0	78	1	9.021144e-01	4	140	0	78	2		0	0	0	0	0	2	1	9.997276e-01	14	485	0	78	2								-3.473210	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.360000	0.200000	1.000000	0.350000	0.426402	0.360000	0	2.700000e-01	5.100000e-01
WDR35	57539	broad.mit.edu	37	2	20133266	20133266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20133266C>T	ENST00000345530.3	-	23	2702	c.2587G>A	c.(2587-2589)Gca>Aca	p.A863T	WDR35_ENST00000281405.4_Missense_Mutation_p.A852T|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35			43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				AACATTTGTGCTATTTCCTGT	0.353000																								0							SO:0001583	missense			ENST00000345530.3	1	1	hg19	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567960	0.65651	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.30448	1.53;1.53	5.29	5.29	0.74685	.	0.058201	0.64402	D	0.000002	T	0.55737	0.1939	M	0.80422	2.495	0.80722	D	1	D;D	0.62365	0.987;0.991	P;P	0.58820	0.843;0.846	T	0.61618	-0.7026	10	0.87932	D	0	-13.325	18.2704	0.90066	0.0:1.0:0.0:0.0	.	852;863	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	863;852	ENSP00000314444:A863T;ENSP00000281405:A852T	ENSP00000281405:A852T	A	-	1	0	WDR35	19996747	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.450000	0.80656	2.635000	0.89317	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	1	0	1	73	190	0	48	1	9.981748e-01	9	19	0	48	2		0	0	0	0	0	2	1	1	72	189	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD18	130535	broad.mit.edu	37	2	201355148	201355148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355148C>T	ENST00000359878.3	-	7	1466	c.956G>A	c.(955-957)cGc>cAc	p.R319H	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18			15					TGCCTTTCTGCGGCTACCACT	0.632000																								0							SO:0001583	missense			ENST00000359878.3	1	1	hg19	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932449	0.18131	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.34275	1.37;1.37	3.3	-0.435	0.12279	.	3.470240	0.00839	N	0.001735	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08722	-1.0708	10	0.25751	T	0.34	-0.0013	2.148	0.03792	0.2456:0.3222:0.0:0.4322	.	319	Q6PI47	KCD18_HUMAN	H	319	ENSP00000352941:R319H;ENSP00000386751:R319H	ENSP00000352941:R319H	R	-	2	0	KCTD18	201063393	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.366000	0.07563	-0.199000	0.10317	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	1	0	1	101	274	0	43	1	1	26	60	0	43	2		0	0	0	0	0	2	1	1	98	267	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD18	130535	broad.mit.edu	37	2	201355283	201355283	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355283T>G	ENST00000359878.3	-	7	1331	c.821A>C	c.(820-822)aAg>aCg	p.K274T	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18			15					TCTAACTGGCTTAGGACCAGT	0.463000																								0							SO:0001583	missense			ENST00000359878.3	1	1	hg19	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198727	0.58126	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.54479	0.57;0.57	5.09	3.91	0.45181	.	0.086833	0.49916	N	0.000137	T	0.39489	0.1080	L	0.32530	0.975	0.35781	D	0.821628	P	0.43169	0.8	B	0.36534	0.227	T	0.54410	-0.8298	10	0.87932	D	0	-20.859	11.6997	0.51564	0.0:0.0:0.1484:0.8516	.	274	Q6PI47	KCD18_HUMAN	T	274	ENSP00000352941:K274T;ENSP00000386751:K274T	ENSP00000352941:K274T	K	-	2	0	KCTD18	201063528	1.000000	0.71417	0.976000	0.42696	0.924000	0.55760	3.977000	0.56874	0.925000	0.37094	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	1	0	1	93	253	0	52	1	1	38	68	0	52	2		0	0	0	0	0	2	1	1	93	246	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AOX1	316	broad.mit.edu	37	2	201469468	201469468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201469468G>T	ENST00000374700.2	+	9	960	c.719G>T	c.(718-720)aGa>aTa	p.R240I		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1			81				Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCAGTGAGAGAATGATGTGG	0.468000																								0							SO:0001583	missense			ENST00000374700.2	1	1	hg19	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594960	0.86953	.	.	ENSG00000138356	ENST00000374700	T	0.23950	1.88	5.27	5.27	0.74061	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);Molybdopterin dehydrogenase, FAD-binding (1);	0.047834	0.85682	D	0.000000	T	0.59088	0.2168	M	0.90814	3.15	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.67304	-0.5704	10	0.87932	D	0	-52.8732	19.0885	0.93215	0.0:0.0:1.0:0.0	.	240	Q06278	ADO_HUMAN	I	240	ENSP00000363832:R240I	ENSP00000363832:R240I	R	+	2	0	AOX1	201177713	1.000000	0.71417	0.109000	0.21407	0.003000	0.03518	5.971000	0.70440	2.758000	0.94735	0.561000	0.74099	AGA		TCGA-IB-7651-01A-11D-2154-08	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	1	0	1	85	517	0	113	0	6.100621e-01	0	14	0	113	2		0	0	0	0	0	2	1	1	84	508	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AOX1	316	broad.mit.edu	37	2	201477379	201477379	+	Silent	SNP	G	G	A	rs146899961	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201477379G>A	ENST00000374700.2	+	14	1552	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1			81				Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGAGAATGCGCTAGCGATAG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000374700.2	1	1	hg19	CCDS33360.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	0	0	0	18	564	0	86	0	2.200629e-01	0	27	0	86	2		0	0	0	0	0	2	1	9.999798e-01	18	556	0	85	2								-2.968727	1	1	121412	1	41	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.400000	0.240000	1.000000	0.380000	0.461818	0.400000	0	3.100000e-01	5.500000e-01
CLK1	1195	broad.mit.edu	37	2	201722536	201722536	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722536A>C	ENST00000321356.4	-	7	872	c.737T>G	c.(736-738)cTt>cGt	p.L246R	CLK1_ENST00000409769.2_Missense_Mutation_p.L69R|CLK1_ENST00000434813.2_Missense_Mutation_p.L288R	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1			33					GTAAGTACTAAGTCCCAATAG	0.363000																								0							SO:0001583	missense			ENST00000321356.4	1	1	hg19	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.411233	0.62399	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.20200	2.09;2.09;2.09	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	N	0.16098	0.37	0.80722	D	1	P;P;P;D	0.89917	0.524;0.929;0.524;1.0	B;B;P;D	0.97110	0.406;0.406;0.51;1.0	T	0.11616	-1.0580	10	0.33141	T	0.24	.	15.0306	0.71705	1.0:0.0:0.0:0.0	.	288;216;246;69	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	R	246;216;69;288	ENSP00000326830:L246R;ENSP00000386358:L69R;ENSP00000394734:L288R	ENSP00000326830:L246R	L	-	2	0	CLK1	201430781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.091000	0.63221	0.460000	0.39030	CTT		TCGA-IB-7651-01A-11D-2154-08	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2	1	0	1	51	292	0	93	1	9.999969e-01	22	88	0	93	2		0	0	0	0	0	2	1	1	50	291	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLK1	1195	broad.mit.edu	37	2	201722711	201722711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722711T>C	ENST00000321356.4	-	6	785	c.650A>G	c.(649-651)gAc>gGc	p.D217G	CLK1_ENST00000409769.2_Missense_Mutation_p.D40G|CLK1_ENST00000434813.2_Missense_Mutation_p.D259G|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1			33					ACTGTTGGGGTCTGTTGTATT	0.358000																								0							SO:0001583	missense			ENST00000321356.4	1	1	hg19	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978869	0.74360	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.64085	-0.08;-0.08;-0.08	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	L	0.48935	1.535	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.998;1.0	T	0.76680	-0.2870	10	0.87932	D	0	.	15.4044	0.74866	0.0:0.0:0.0:1.0	.	259;187;217;40	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	G	217;187;40;259	ENSP00000326830:D217G;ENSP00000386358:D40G;ENSP00000394734:D259G	ENSP00000326830:D217G	D	-	2	0	CLK1	201430956	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.997000	0.88414	2.178000	0.69098	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2	1	0	1	72	453	0	103	1	9.999999e-01	31	116	0	103	2		0	0	0	0	0	2	1	1	70	446	0	103	2								-20.000000	1	0	121412	2	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLK1	1195	broad.mit.edu	37	2	201722796	201722796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722796C>A	ENST00000321356.4	-	6	700	c.565G>T	c.(565-567)Gca>Tca	p.A189S	CLK1_ENST00000409769.2_Missense_Mutation_p.A12S|CLK1_ENST00000434813.2_Missense_Mutation_p.A231S|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1			33					ATTTTTACTGCTACATGTCTA	0.378000																								0							SO:0001583	missense			ENST00000321356.4	1	1	hg19	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780641	0.90195	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.56275	0.47;0.47;0.47	5.6	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.85491	0.1185	10	0.87932	D	0	.	15.5631	0.76266	0.1385:0.8615:0.0:0.0	.	231;159;189;12	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	S	189;159;12;231	ENSP00000326830:A189S;ENSP00000386358:A12S;ENSP00000394734:A231S	ENSP00000326830:A189S	A	-	1	0	CLK1	201431041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.626000	0.88956	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2	1	0	1	71	415	0	75	1	1	22	151	0	75	2		0	0	0	0	0	2	1	1	70	410	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM126B	285172	broad.mit.edu	37	2	201887576	201887576	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201887576A>C	ENST00000418596.3	-	4	318	c.131T>G	c.(130-132)gTt>gGt	p.V44G	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B			16					ATCTTGAATAACTTTATAGAG	0.328000																								0							SO:0001583	missense			ENST00000418596.3	1	1	hg19	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627956	0.66901	.	.	ENSG00000155744	ENST00000418596;ENST00000452799;ENST00000453765;ENST00000446678	T;T;T;D	0.85955	-1.25;-1.25;-1.25;-2.05	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93478	0.6825	10	0.87932	D	0	-12.7992	15.9596	0.79918	1.0:0.0:0.0:0.0	.	44	Q8IXS8	F126B_HUMAN	G	44	ENSP00000393667:V44G;ENSP00000401905:V44G;ENSP00000408374:V44G;ENSP00000412139:V44G	ENSP00000286181:V44G	V	-	2	0	FAM126B	201595821	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.860000	0.92272	2.220000	0.72140	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	1	0	1	61	332	0	79	1	9.771509e-01	12	23	0	79	2		0	0	0	0	0	2	1	1	58	328	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CFLAR	8837	broad.mit.edu	37	2	201994608	201994608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994608A>G	ENST00000309955.3	+	2	535	c.20A>G	c.(19-21)cAt>cGt	p.H7R	CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R|CFLAR_ENST00000395148.2_Missense_Mutation_p.H7R|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator			13					GAAGTCATCCATCAGGTTGAA	0.493000													Pancreas(16;548 657 22190 32864 42338)											0							SO:0001583	missense			ENST00000309955.3	1	1	hg19	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358134	0.41801	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.72;0.82;0.82;3.59;4.0;0.86;3.72;0.82;3.59	5.9	3.44	0.39384	DEATH-like (2);Death effector (3);	0.383959	0.31221	N	0.008038	T	0.60534	0.2276	M	0.66939	2.045	0.38335	D	0.943914	P;D;D;D;P;D;P	0.76494	0.899;0.999;0.999;0.999;0.876;0.967;0.899	P;D;D;D;P;P;P	0.70716	0.834;0.95;0.95;0.97;0.794;0.744;0.901	T	0.59016	-0.7533	10	0.22109	T	0.4	-10.5801	10.0593	0.42263	0.7312:0.0:0.0:0.2688	.	7;7;7;7;7;7;7	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	R	7	ENSP00000312455:H7R;ENSP00000339335:H7R;ENSP00000347757:H7R;ENSP00000339326:H7R;ENSP00000345807:H7R;ENSP00000342809:H7R;ENSP00000399420:H7R;ENSP00000406775:H7R;ENSP00000411535:H7R	ENSP00000312455:H7R	H	+	2	0	CFLAR	201702853	1.000000	0.71417	0.990000	0.47175	0.091000	0.18340	3.037000	0.49775	0.434000	0.26340	0.460000	0.39030	CAT		TCGA-IB-7651-01A-11D-2154-08	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	1	0	1	187	613	0	129	1	1	401	271	0	129	2		0	0	0	0	0	2	1	1	184	606	0	129	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CFLAR	8837	broad.mit.edu	37	2	201994684	201994684	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994684G>A	ENST00000309955.3	+	2	611	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000342795.5_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000341222.6_Silent_p.V32V|CFLAR_ENST00000395148.2_Silent_p.V32V|CFLAR_ENST00000355558.4_Silent_p.V32V	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator			13					CTATAGATGTGGTTCCACCTA	0.478000													Pancreas(16;548 657 22190 32864 42338)											0							SO:0001819	synonymous_variant			ENST00000309955.3	1	1	hg19	CCDS2337.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	1	0	1	216	678	0	155	1	1	743	486	0	155	2		0	0	0	0	0	2	1	1	211	664	0	154	2								-5.932683	1	0	121412	5	42	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CFLAR	8837	broad.mit.edu	37	2	202005146	202005146	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202005146C>A	ENST00000309955.3	+	5	1105	c.590C>A	c.(589-591)cCt>cAt	p.P197H	CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H|RNU7-45P_ENST00000459460.1_RNA|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator			13					CTCAAGGATCCTTCAAATAAC	0.398000													Pancreas(16;548 657 22190 32864 42338)											0							SO:0001583	missense			ENST00000309955.3	1	1	hg19	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.086986	0.07097	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000342795;ENST00000423241;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T;T	0.48522	3.71;3.71;0.81;0.81;3.58;3.93;0.87;3.71;0.81;3.58	4.69	1.81	0.25067	.	0.885835	0.10210	N	0.702195	T	0.36690	0.0976	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B	0.30973	0.095;0.021;0.241;0.127;0.155;0.302;0.127	B;B;B;B;B;B;B	0.32624	0.032;0.016;0.103;0.075;0.048;0.149;0.075	T	0.30357	-0.9981	10	0.38643	T	0.18	0.0436	4.1779	0.10360	0.1818:0.6268:0.0:0.1914	.	101;197;197;197;197;197;197	O15519-3;C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2	.;.;.;.;CFLAR_HUMAN;.;.	H	197;101;197;197;197;101;197;197;197;197;197	ENSP00000312455:P197H;ENSP00000413270:P101H;ENSP00000339335:P197H;ENSP00000347757:P197H;ENSP00000339326:P197H;ENSP00000345807:P197H;ENSP00000342809:P197H;ENSP00000399420:P197H;ENSP00000406775:P197H;ENSP00000411535:P197H	ENSP00000312455:P197H	P	+	2	0	CFLAR	201713391	0.010000	0.17322	0.015000	0.15790	0.043000	0.13939	0.479000	0.22228	0.405000	0.25532	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	1	0	1	115	335	0	82	1	1	498	334	0	82	2		0	0	0	0	0	2	1	1	111	328	0	81	2								-5.415438	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CFLAR	8837	broad.mit.edu	37	2	202025276	202025276	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202025276C>T	ENST00000309955.3	+	9	1430	c.915C>T	c.(913-915)taC>taT	p.Y305Y	CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000479953.2_Silent_p.Y209Y|CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000443227.1_Silent_p.Y209Y|CFLAR_ENST00000457277.1_Silent_p.Y305Y|CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Intron	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator			13					ACCGAGACTACGACAGCTTTG	0.532000													Pancreas(16;548 657 22190 32864 42338)											0							SO:0001819	synonymous_variant			ENST00000309955.3	1	1	hg19	CCDS2337.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	0	0	1	74	793	1	168	1	9.997966e-01	26	246	1	168	8		0	0	0	0	0	2	1	1	74	775	1	167	18								-17.637340	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.860000	1.000000	1.000000	0.985931	0.990000	1	9.700000e-01	1
CASP10	843	broad.mit.edu	37	2	202050562	202050562	+	Missense_Mutation	SNP	G	G	A	rs140813639	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202050562G>A	ENST00000272879.5	+	2	246	c.62G>A	c.(61-63)cGt>cAt	p.R21H	CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H|CASP10_ENST00000286186.6_Missense_Mutation_p.R21H	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase			27					GTGAGCTTTCGTGAGAAGCTT	0.463000																								0							SO:0001583	missense			ENST00000272879.5	1	1	hg19	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591814	0.46214	0.0	4.65E-4	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.13	3.29	0.37713	DEATH-like (2);Death effector (3);	0.912306	0.09231	N	0.830544	D	0.88994	0.6589	M	0.62266	1.93	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.76071	0.978;0.975;0.987;0.98;0.968;0.984	T	0.76027	-0.3109	10	0.72032	D	0.01	.	9.6803	0.40065	0.1771:0.0:0.8229:0.0	.	21;21;21;21;21;21	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	H	21	ENSP00000286186:R21H;ENSP00000353250:R21H;ENSP00000272879:R21H;ENSP00000363781:R21H;ENSP00000237865:R21H;ENSP00000314599:R21H;ENSP00000396835:R21H	ENSP00000272879:R21H	R	+	2	0	CASP10	201758807	0.201000	0.23410	0.021000	0.16686	0.036000	0.12997	0.779000	0.26746	1.286000	0.44565	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	1	0	1	135	419	0	99	1	9.999923e-01	11	44	0	99	2		0	0	0	0	0	2	1	1	131	410	1	99	19								-20.000000	1	1	121412	7	41	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP8	841	broad.mit.edu	37	2	202149924	202149924	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202149924G>A	ENST00000432109.2	+	9	1377	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000358485.4_Silent_p.E455E|CASP8_ENST00000323492.7_Silent_p.E381E|CASP8_ENST00000264275.5_Silent_p.E413E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase			52					TCCCGGATGAGGCTGACTTTC	0.463000										HNSCC(4;0.00038)			Melanoma(82;831 1348 20716 36952 40159)											0							SO:0001819	synonymous_variant			ENST00000432109.2	1	1	hg19	CCDS2342.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	1	0	0	87	247	0	57	1	9.999996e-01	18	45	0	57	2		0	0	0	0	0	2	1	1	85	242	0	56	2								-20.000000	1	1	121412	2	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202150030C>T	ENST00000432109.2	+	9	1483	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R491*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	p.R449*(2)|p.R491*(2)		52					CCTGAGAGAGCGATGTCCTCG	0.507000										HNSCC(4;0.00038)			Melanoma(82;831 1348 20716 36952 40159)											4	Substitution - Nonsense(4)						SO:0001587	stop_gained			ENST00000432109.2	0	1	hg19	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854011	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	-0.0641	0.13774	.	0.491720	0.23362	N	0.049019	.	.	.	.	.	.	0.33432	D	0.581203	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7959	0.08738	0.4714:0.3404:0.0731:0.1151	.	.	.	.	X	417;348;432;449;491;417;211	.	ENSP00000264274:R348X	R	+	1	2	CASP8	201858275	0.981000	0.34729	0.997000	0.53966	0.724000	0.41520	0.848000	0.27710	0.348000	0.23949	-0.314000	0.08810	CGA		TCGA-IB-7651-01A-11D-2154-08	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	1	0	1	97	299	0	77	1	9.999999e-01	18	55	0	77	2		0	0	0	0	0	2	1	1	94	292	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAK2	66008	broad.mit.edu	37	2	202254168	202254168	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202254168A>G	ENST00000332624.3	-	12	1680	c.1252T>C	c.(1252-1254)Tct>Cct	p.S418P		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2			23					AATGAGATAGAGCGGCCCCGT	0.483000																								0							SO:0001583	missense			ENST00000332624.3	1	1	hg19	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226869	0.39399	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.48201	0.82	5.9	2.16	0.27623	Trafficking kinesin-binding protein domain (1);	0.319626	0.30193	N	0.010189	T	0.44623	0.1302	M	0.69823	2.125	0.80722	D	1	B	0.14012	0.009	B	0.22386	0.039	T	0.30621	-0.9972	10	0.48119	T	0.1	.	8.0029	0.30308	0.6399:0.1238:0.0:0.2363	.	418	O60296	TRAK2_HUMAN	P	418;324	ENSP00000328875:S418P	ENSP00000328875:S418P	S	-	1	0	TRAK2	201962413	0.996000	0.38824	0.477000	0.27303	0.521000	0.34408	2.190000	0.42630	0.121000	0.18284	0.528000	0.53228	TCT		TCGA-IB-7651-01A-11D-2154-08	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	0	0	1	64	383	0	55	1	1	16	139	0	55	2		0	0	0	0	0	2	1	1	64	374	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAK2	66008	broad.mit.edu	37	2	202257678	202257678	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202257678G>T	ENST00000332624.3	-	10	1495	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2			23					ATGAGCAGTAGGGCCAGATCT	0.368000																								0							SO:0001583	missense			ENST00000332624.3	1	1	hg19	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237315	0.79800	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.13778	2.56	4.78	4.78	0.61160	.	0.067807	0.64402	D	0.000011	T	0.30947	0.0781	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	T	0.02391	-1.1166	10	0.87932	D	0	.	12.5152	0.56028	0.0:0.0:0.8338:0.1662	.	356	O60296	TRAK2_HUMAN	H	356;262	ENSP00000328875:P356H	ENSP00000328875:P356H	P	-	2	0	TRAK2	201965923	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	6.501000	0.73691	2.631000	0.89168	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	1	0	1	39	150	0	29	1	9.999960e-01	12	66	0	29	2		0	0	0	0	0	2	1	1	39	149	0	28	2								-19.999990	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAK2	66008	broad.mit.edu	37	2	202272137	202272137	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202272137A>T	ENST00000332624.3	-	3	703	c.275T>A	c.(274-276)tTc>tAc	p.F92Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2			23					CATGTAACGGAAAGTCTCTTC	0.388000																								0							SO:0001583	missense			ENST00000332624.3	1	1	hg19	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803037	0.90623	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.18174	2.23;2.23	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.987;0.995	T	0.08472	-1.0720	10	0.72032	D	0.01	.	15.2183	0.73288	1.0:0.0:0.0:0.0	.	92;92	E7EV21;O60296	.;TRAK2_HUMAN	Y	92	ENSP00000328875:F92Y;ENSP00000409333:F92Y	ENSP00000328875:F92Y	F	-	2	0	TRAK2	201980382	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	8.194000	0.89721	2.180000	0.69256	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	1	0	0	55	140	0	37	1	1	25	68	0	37	2		0	0	0	0	0	2	1	1	54	140	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRADB	55437	broad.mit.edu	37	2	202339474	202339474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202339474C>T	ENST00000194530.3	+	6	785	c.420C>T	c.(418-420)gcC>gcT	p.A140A	STRADB_ENST00000392249.2_Silent_p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta			13					CATTTATGGCCTATGGTAAGA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000194530.3	1	1	hg19	CCDS2348.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	1	0	1	111	329	0	88	1	9.953215e-01	4	23	0	88	2		0	0	0	0	0	2	1	1	108	323	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPP4	58538	broad.mit.edu	37	2	202520927	202520927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202520927G>T	ENST00000409474.3	-	17	1501	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I	MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000315506.7_Missense_Mutation_p.L388I|MPP4_ENST00000428900.2_Missense_Mutation_p.L408I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)			12					ATACCCATGAGCACTATGAGG	0.537000																								0							SO:0001583	missense			ENST00000409474.3	0	1	hg19	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315542	0.81469	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.076523	0.53938	D	0.000049	T	0.65165	0.2665	L	0.46947	1.48	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.971;0.999;0.999;0.999;0.999;0.999;1.0	T	0.66060	-0.6017	10	0.87932	D	0	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	374;357;408;401;388;425;432;397	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	I	432;388;357;432;397;361;408;374;425	ENSP00000387278:L432I;ENSP00000319363:L388I;ENSP00000353047:L432I;ENSP00000416781:L408I;ENSP00000387293:L374I;ENSP00000406160:L425I	ENSP00000319363:L388I	L	-	1	0	MPP4	202229172	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.790000	0.75115	2.676000	0.91093	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2	1	0	1	6	48	0	16	0	0	0	1	0	16	2		0	0	0	0	0	2	1	9.659657e-01	6	47	0	16	2								-12.248030	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.630000	1.000000	1.000000	0.968579	0.990000	1	9.900000e-01	1
ALS2	57679	broad.mit.edu	37	2	202622146	202622146	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202622146G>T	ENST00000264276.6	-	5	1822	c.1450C>A	c.(1450-1452)Ctc>Atc	p.L484I		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)			72					AATCCAGGGAGGGAGAGTCTT	0.418000																								0							SO:0001583	missense			ENST00000264276.6	1	1	hg19	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835620	0.71373	.	.	ENSG00000003393	ENST00000264276	T	0.58652	0.32	5.9	5.9	0.94986	.	0.064498	0.64402	D	0.000006	T	0.63581	0.2523	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.986	D;P;P	0.83275	0.996;0.872;0.744	T	0.59064	-0.7524	10	0.29301	T	0.29	.	14.4356	0.67279	0.07:0.0:0.93:0.0	.	484;484;484	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	I	484	ENSP00000264276:L484I	ENSP00000264276:L484I	L	-	1	0	ALS2	202330391	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.789000	0.69029	2.786000	0.95864	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	1	0	0	32	410	0	84	1	7.188802e-01	4	29	0	84	2		0	0	0	0	0	2	1	1	32	406	0	84	2								-2.505881	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.930000	0.650000	1.000000	1.000000	0.906697	0.930000	1	7.800000e-01	1
ALS2	57679	broad.mit.edu	37	2	202625825	202625825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202625825C>A	ENST00000264276.6	-	4	1264	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)			72					ACAGACTGATCATTTGCTACA	0.458000																								0							SO:0001583	missense			ENST00000264276.6	1	1	hg19	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184637	0.38609	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.57907	0.37;0.72	6.17	3.3	0.37823	.	1.271760	0.05014	N	0.471553	T	0.38772	0.1053	N	0.22421	0.69	0.20873	N	0.999837	P;B;B;B	0.37636	0.603;0.091;0.016;0.0	B;B;B;B	0.33042	0.157;0.029;0.009;0.0	T	0.35425	-0.9789	10	0.66056	D	0.02	.	6.7842	0.23664	0.0:0.6066:0.2313:0.1621	.	298;298;298;298	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	Y	298	ENSP00000264276:D298Y;ENSP00000429223:D298Y	ENSP00000264276:D298Y	D	-	1	0	ALS2	202334070	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.189000	0.32114	0.951000	0.37770	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	1	0	1	188	601	0	112	1	9.999249e-01	21	25	0	112	2		0	0	0	0	0	2	1	1	182	587	0	112	2								-5.552555	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALS2	57679	broad.mit.edu	37	2	202632036	202632036	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202632036T>G	ENST00000264276.6	-	3	463	c.91A>C	c.(91-93)Aca>Cca	p.T31P	ALS2_ENST00000467448.1_Missense_Mutation_p.T31P|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)			72					CTCTCTGGTGTTATGGGAAAG	0.473000																								0							SO:0001583	missense			ENST00000264276.6	1	1	hg19	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719253	0.68844	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	6.07	4.92	0.64577	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.265070	0.42682	D	0.000678	D	0.89076	0.6612	M	0.74258	2.255	0.42157	D	0.99158	D;D;D;P	0.76494	0.999;0.98;0.974;0.944	D;P;P;P	0.69142	0.962;0.731;0.548;0.462	D	0.88998	0.3419	10	0.59425	D	0.04	.	9.9432	0.41593	0.0:0.1356:0.0:0.8644	.	31;31;31;31	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	P	31	ENSP00000264276:T31P;ENSP00000429223:T31P;ENSP00000386384:T31P;ENSP00000386948:T31P	ENSP00000264276:T31P	T	-	1	0	ALS2	202340281	0.931000	0.31567	0.807000	0.32361	0.997000	0.91878	1.289000	0.33307	1.114000	0.41781	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	1	0	1	71	176	0	44	1	1	42	31	0	44	2		0	0	0	0	0	2	1	1	71	175	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK15	65061	broad.mit.edu	37	2	202744776	202744776	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744776G>T	ENST00000374598.4	+	12	1084	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000450471.2_Missense_Mutation_p.D362Y			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15			26				Adenosine triphosphate(DB00171)	TGAAGCTGAAGACCTGGCCTC	0.498000																								0							SO:0001583	missense			ENST00000374598.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.3	3.966716	0.74131	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.96	5.96	0.96718	.	0.055265	0.64402	D	0.000001	T	0.79358	0.4432	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	D	0.83988	0.0336	10	0.87932	D	0	-16.011	15.4778	0.75497	0.0677:0.0:0.9323:0.0	.	362	F8W6H8	.	Y	311;311;362;362;362	ENSP00000386901:D311Y;ENSP00000260967:D311Y;ENSP00000406472:D362Y;ENSP00000412775:D362Y;ENSP00000363726:D362Y	ENSP00000260967:D311Y	D	+	1	0	CDK15	202453021	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.404000	0.66344	2.828000	0.97474	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2	1	0	0	15	211	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.998764e-01	16	207	0	52	2								-18.866610	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.880000	0.500000	1.000000	1.000000	0.850863	0.880000	1	6.700000e-01	1
CDK15	65061	broad.mit.edu	37	2	202744820	202744820	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744820C>A	ENST00000374598.4	+	12	1128	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000410091.3_Silent_p.V325V|CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000450471.2_Silent_p.V376V			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15			26				Adenosine triphosphate(DB00171)	GAGACCGCGTCTCCGCCCAGG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000374598.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2	1	0	1	57	212	0	53	0	4.642392e-02	0	2	0	53	2		0	0	0	0	0	2	1	9.999999e-01	57	205	1	53	17								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD7	8324	broad.mit.edu	37	2	202900483	202900483	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900483C>T	ENST00000286201.1	+	1	1174	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7			31					AGTGGGGCCACGAGGCCATCG	0.627000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000286201.1	1	1	hg19	CCDS2351.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	0	0	0	16	409	0	70	1	7.548699e-01	2	69	0	70	2		0	0	0	0	0	2	1	9.999225e-01	16	399	0	69	2								-15.713330	1	1	121412	1	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.500000	0.290000	1.000000	0.470000	0.544252	0.500000	0	3.800000e-01	6.800000e-01
FZD7	8324	broad.mit.edu	37	2	202900639	202900639	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900639C>T	ENST00000286201.1	+	1	1330	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7			31					CGCTGCGGGGCTTCGTGCTGG	0.617000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000286201.1	1	1	hg19	CCDS2351.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	1	0	1	126	388	0	82	1	9.999999e-01	20	53	0	82	2		0	0	0	0	0	2	1	1	125	383	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOP58	51602	broad.mit.edu	37	2	203139885	203139885	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203139885T>G	ENST00000264279.5	+	2	321	c.95T>G	c.(94-96)tTt>tGt	p.F32C	NOP58_ENST00000467734.1_Intron|SNORD70_ENST00000391007.1_RNA|SNORD70_ENST00000391232.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein			16					TGGAAAGAATTTGAAACTCCA	0.284000																								0							SO:0001583	missense			ENST00000264279.5	0	1	hg19	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096477	0.76870	.	.	ENSG00000055044	ENST00000264279	T	0.62941	-0.01	5.06	5.06	0.68205	NOP5, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.88640	2.97	0.80722	D	1	P;B	0.46706	0.883;0.228	P;B	0.52823	0.71;0.289	T	0.81929	-0.0708	10	0.59425	D	0.04	1.9211	14.6402	0.68717	0.0:0.0:0.0:1.0	.	32;32	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	C	32	ENSP00000264279:F32C	ENSP00000264279:F32C	F	+	2	0	NOP58	202848130	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.017000	0.76399	2.126000	0.65437	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	0	0	0	4	133	0	39	1	9.126041e-01	8	143	0	39	2		0	0	0	0	0	2	1	8.897761e-01	4	132	0	39	2								-7.073265	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.430000	0.140000	1.000000	0.360000	0.492350	0.430000	0	2.500000e-01	7.400000e-01
NOP58	51602	broad.mit.edu	37	2	203149180	203149180	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203149180C>T	ENST00000264279.5	+	5	636	c.410C>T	c.(409-411)gCt>gTt	p.A137V	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein			16					GAAATGGCAGCTATGTGTCTT	0.378000																								0							SO:0001583	missense			ENST00000264279.5	1	1	hg19	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710497	0.89018	.	.	ENSG00000055044	ENST00000264279	T	0.61392	0.11	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.76328	2.33	0.80722	D	1	D;P	0.54601	0.967;0.648	P;B	0.54346	0.749;0.36	T	0.70189	-0.4940	10	0.35671	T	0.21	-3.5345	19.2052	0.93728	0.0:1.0:0.0:0.0	.	137;137	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	V	137	ENSP00000264279:A137V	ENSP00000264279:A137V	A	+	2	0	NOP58	202857425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.591000	0.87537	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	0	0	0	12	508	0	93	1	8.191981e-01	13	122	0	93	2		0	0	0	0	0	2	1	9.990348e-01	12	499	0	92	2								-2.237180	0	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.310000	0.160000	1.000000	0.290000	0.374170	0.310000	0	2.200000e-01	4.400000e-01
BMPR2	659	broad.mit.edu	37	2	203395674	203395674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203395674C>T	ENST00000374580.4	+	8	1664	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	BMPR2_ENST00000374574.2_Silent_p.S375S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)			42					CAGCCATAAGCGAGGTGAGTG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000374580.4	1	1	hg19	CCDS33361.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	1	0	0	19	225	0	54	1	9.999080e-01	25	160	0	54	2		0	0	0	0	0	2	1	9.999877e-01	19	213	0	54	2								-3.318820	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.630000	1.000000	1.000000	0.928182	0.990000	1	8.000000e-01	1
BMPR2	659	broad.mit.edu	37	2	203417590	203417590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203417590C>T	ENST00000374580.4	+	11	2104	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	BMPR2_ENST00000374574.2_Missense_Mutation_p.S522F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)			42					AATCCAATGTCTACTGCTATG	0.418000																								0							SO:0001583	missense			ENST00000374580.4	0	1	hg19	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922814	0.73213	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.89746	-2.56;-2.47	5.48	4.6	0.57074	.	0.345366	0.34802	N	0.003680	D	0.88355	0.6414	L	0.27053	0.805	0.43007	D	0.994533	P;D	0.60160	0.917;0.987	P;P	0.56216	0.603;0.794	D	0.89690	0.3897	10	0.66056	D	0.02	.	14.4135	0.67132	0.0:0.9286:0.0:0.0714	.	522;522	Q13161;Q13873	.;BMPR2_HUMAN	F	522	ENSP00000363708:S522F;ENSP00000363702:S522F	ENSP00000363702:S522F	S	+	2	0	BMPR2	203125835	1.000000	0.71417	0.764000	0.31436	0.897000	0.52465	5.706000	0.68362	1.308000	0.44962	0.491000	0.48974	TCT		TCGA-IB-7651-01A-11D-2154-08	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	0	0	0	9	404	0	83	1	9.004455e-01	2	183	0	83	2		0	0	0	0	0	2	1	9.935905e-01	9	393	0	83	2								-3.320721	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.290000	0.140000	1.000000	0.270000	0.364451	0.290000	0	2.000000e-01	4.500000e-01
BMPR2	659	broad.mit.edu	37	2	203420850	203420850	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203420850C>T	ENST00000374580.4	+	12	3001	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)			42					TCCCATGCTGCCACAACCCAA	0.458000																								0							SO:0001583	missense			ENST00000374580.4	1	1	hg19	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269427	0.40095	.	.	ENSG00000204217	ENST00000374580	D	0.89485	-2.52	5.97	5.97	0.96955	.	0.329198	0.36778	N	0.002408	T	0.79511	0.4458	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73506	-0.3961	10	0.45353	T	0.12	.	10.7522	0.46216	0.0:0.7854:0.1427:0.0719	.	821	Q13873	BMPR2_HUMAN	V	821	ENSP00000363708:A821V	ENSP00000363708:A821V	A	+	2	0	BMPR2	203129095	0.784000	0.28713	1.000000	0.80357	0.986000	0.74619	1.333000	0.33816	2.836000	0.97738	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	0	0	1	58	277	0	66	1	1	33	133	0	66	2		0	0	0	0	0	2	1	1	56	274	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMPR2	659	broad.mit.edu	37	2	203424527	203424527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203424527C>T	ENST00000374580.4	+	13	3514	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)			42					TGGGTCATCTCCACTGAATCG	0.483000																								0							SO:0001583	missense			ENST00000374580.4	1	1	hg19	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574230	0.65878	.	.	ENSG00000204217	ENST00000374580	D	0.91894	-2.93	5.65	5.65	0.86999	.	0.100576	0.64402	D	0.000001	D	0.88470	0.6445	L	0.27053	0.805	0.80722	D	1	P	0.42123	0.771	B	0.39617	0.305	D	0.89783	0.3962	10	0.87932	D	0	.	19.7342	0.96195	0.0:1.0:0.0:0.0	.	992	Q13873	BMPR2_HUMAN	F	992	ENSP00000363708:S992F	ENSP00000363708:S992F	S	+	2	0	BMPR2	203132772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.663000	0.83820	2.686000	0.91538	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	1	0	0	12	260	0	47	1	9.945957e-01	18	176	0	47	2		0	0	0	0	0	2	1	9.991159e-01	12	257	0	47	2								-13.620100	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.590000	0.310000	1.000000	0.550000	0.628174	0.590000	0	4.300000e-01	8.300000e-01
NBEAL1	65065	broad.mit.edu	37	2	204016309	204016309	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204016309C>T	ENST00000449802.1	+	34	5830	c.5497C>T	c.(5497-5499)Ctg>Ttg	p.L1833L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1			37					GAGAGATAATCTGGGTGAGTT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000449802.1	1	1	hg19	CCDS46495.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	1	0	1	34	233	0	45	1	7.670839e-01	5	16	0	45	2		0	0	0	0	0	2	1	1	34	225	0	44	2								-14.883860	1	1	120812	1	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999848	0.990000	1	9.900000e-01	1
NBEAL1	65065	broad.mit.edu	37	2	204032000	204032000	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204032000C>A	ENST00000449802.1	+	37	6160	c.5827C>A	c.(5827-5829)Ctc>Atc	p.L1943I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1			37					AGAGATTCATCTCCGGCGTTA	0.363000																								0							SO:0001583	missense			ENST00000449802.1	1	1	hg19	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734574	0.69189	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56275	0.47	5.29	-1.69	0.08186	PH-BEACH domain (1);	0.144540	0.46758	D	0.000266	T	0.67268	0.2875	M	0.81497	2.545	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.66200	-0.5983	10	0.26408	T	0.33	.	12.7381	0.57236	0.0:0.2437:0.0:0.7563	.	1943;1932	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	I	1943	ENSP00000399903:L1943I	ENSP00000344985:L1943I	L	+	1	0	NBEAL1	203740245	0.839000	0.29477	0.359000	0.25824	0.897000	0.52465	0.416000	0.21198	-0.285000	0.09089	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	1	0	1	95	482	0	96	1	9.814551e-01	6	28	0	96	2		0	0	0	0	0	2	1	1	93	479	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20405117G>A	ENST00000254351.4	-	2	379	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SDC1_ENST00000403076.1_Silent_p.S45S|SDC1_ENST00000381150.1_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1			21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CACCTGAGCCGGAGAAGTTGT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000254351.4	1	1	hg19	CCDS1697.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	1	0	0	71	673	0	142	1	1	100	604	0	142	2		0	0	0	0	0	2	1	1	69	666	0	141	2								-2.429492	0	1	121412	3	40	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.960000	1.000000	1.000000	0.997884	0.990000	1	9.900000e-01	1
CYP20A1	57404	broad.mit.edu	37	2	204111546	204111546	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204111546G>T	ENST00000356079.4	+	3	314	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	p.R64I(1)		11					TTGCATGAGAGATATGGGCCT	0.428000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000356079.4	0	1	hg19	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.939281	0.73557	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.69561	-0.41;-0.41;-0.41	5.36	4.49	0.54785	.	0.285799	0.39210	N	0.001432	T	0.68622	0.3021	L	0.47716	1.5	0.36984	D	0.89446	D;P	0.55800	0.973;0.769	P;P	0.54815	0.761;0.544	T	0.75124	-0.3428	10	0.87932	D	0	-7.0928	9.1118	0.36732	0.2098:0.0:0.7902:0.0	.	64;64	E9PHG5;Q6UW02	.;CP20A_HUMAN	I	64	ENSP00000348380:R64I;ENSP00000407860:R64I;ENSP00000411341:R64I	ENSP00000348380:R64I	R	+	2	0	CYP20A1	203819791	1.000000	0.71417	0.969000	0.41365	0.912000	0.54170	4.114000	0.57858	1.285000	0.44548	-0.213000	0.12676	AGA		TCGA-IB-7651-01A-11D-2154-08	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	0	0	0	18	1209	0	179	0	1.607789e-01	0	46	0	179	2		0	0	0	0	0	2	1	9.999754e-01	18	1174	0	176	2								-2.879631	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.190000	0.110000	1.000000	0.180000	0.266650	0.190000	0	1.400000e-01	2.600000e-01
CYP20A1	57404	broad.mit.edu	37	2	204131313	204131313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204131313G>A	ENST00000356079.4	+	5	632	c.509G>A	c.(508-510)gGt>gAt	p.G170D	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.G170D	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1			11					CATATGCTTGGTTTTGCTATG	0.433000																								0							SO:0001583	missense			ENST00000356079.4	1	1	hg19	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504620	0.85176	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.67345	-0.26;-0.26;-0.26	5.19	5.19	0.71726	.	0.168452	0.51477	D	0.000082	T	0.75474	0.3854	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.62365	0.991;0.732	P;B	0.61070	0.883;0.377	T	0.75485	-0.3301	10	0.45353	T	0.12	-13.052	18.708	0.91645	0.0:0.0:1.0:0.0	.	170;170	E9PHG5;Q6UW02	.;CP20A_HUMAN	D	170	ENSP00000348380:G170D;ENSP00000407860:G170D;ENSP00000411341:G170D	ENSP00000348380:G170D	G	+	2	0	CYP20A1	203839558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.123000	0.89586	2.383000	0.81215	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	1	0	1	191	531	0	127	1	9.999288e-01	17	23	0	127	2		0	0	0	0	0	2	1	1	185	512	0	126	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP20A1	57404	broad.mit.edu	37	2	204156990	204156990	+	Silent	SNP	C	C	T	rs149090400	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204156990C>T	ENST00000356079.4	+	11	1212	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.L371L	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1			11					CACAGACCCTCGTCCTTTATG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000356079.4	1	1	hg19	CCDS2357.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	1	0	1	92	596	0	93	1	9.985469e-01	17	46	0	93	2		0	0	0	0	0	2	1	1	89	584	0	92	2								-3.221885	1	1	121412	5	41	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABI2	10152	broad.mit.edu	37	2	204231708	204231708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204231708C>A	ENST00000261016.6	+	2	346	c.15C>A	c.(13-15)tgC>tgA	p.C5*	ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000295851.5_Missense_Mutation_p.L76M|ABI2_ENST00000422511.2_Missense_Mutation_p.L76M|ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M			Q9NYB9	ABI2_HUMAN	abl-interactor 2			15					CCTGCAGATGCTGGATATCCA	0.443000																								0							SO:0001587	stop_gained			ENST00000261016.6	0	0	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715171|4.715171	0.89112|0.89112	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000261016|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000417864;ENST00000422511	.|D;D;D;D;D;D	.|0.92858	.|-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.42|5.42	3.29|3.29	0.37713|0.37713	.|Target SNARE coiled-coil domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.93746	.|0.8001	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.988;0.971	.|D;P;D	.|0.70716	.|0.965;0.864;0.97	.|D	.|0.92531	.|0.6033	.|10	0.45353|0.42905	T|T	0.12|0.14	-8.6106|-8.6106	10.4872|10.4872	0.44729|0.44729	0.0:0.7672:0.0:0.2328|0.0:0.7672:0.0:0.2328	.|.	.|76;76;76	.|Q9NYB9-4;Q9NYB9;Q9NYB9-2	.|.;ABI2_HUMAN;.	X|M	5|76	.|ENSP00000295851:L76M;ENSP00000261017:L76M;ENSP00000408898:L76M;ENSP00000391433:L76M;ENSP00000414703:L76M;ENSP00000396249:L76M	ENSP00000261016:C5X|ENSP00000261017:L76M	C|L	+|+	3|1	2|2	ABI2|ABI2	203939953|203939953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.708000|2.708000	0.47152|0.47152	1.293000|1.293000	0.44690|0.44690	0.655000|0.655000	0.94253|0.94253	TGC|CTG		TCGA-IB-7651-01A-11D-2154-08	ABI2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	61	261	0	51	1	9.999987e-01	26	62	0	51	2		0	0	0	0	0	2	1	1	60	258	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPH1	65059	broad.mit.edu	37	2	204313471	204313471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204313471C>T	ENST00000319170.5	-	11	1801	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H|RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1			32					CTTTGCAATGCGGATCCCATT	0.373000																								0							SO:0001583	missense			ENST00000319170.5	1	1	hg19	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029621	0.93518	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.2	5.2	0.72013	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.41194	D	0.000930	D	0.88819	0.6540	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.90902	0.4769	10	0.87932	D	0	-13.2136	18.7336	0.91746	0.0:1.0:0.0:0.0	.	553;553;501	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	H	501;501;553;528;526;553;526;501;528;553;526;501;528	ENSP00000392854:R501H;ENSP00000316543:R501H;ENSP00000363617:R553H;ENSP00000363613:R528H;ENSP00000363612:R526H;ENSP00000311293:R553H;ENSP00000411138:R526H;ENSP00000390578:R501H;ENSP00000397751:R528H;ENSP00000406662:R553H;ENSP00000396711:R501H	ENSP00000311293:R553H	R	-	2	0	RAPH1	204021716	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.770000	0.85390	2.427000	0.82271	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	1	0	1	96	332	0	77	1	9.999961e-01	25	40	0	77	2		0	0	0	0	0	2	1	1	98	325	0	77	2								-4.320786	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPH1	65059	broad.mit.edu	37	2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204320201G>A	ENST00000319170.5	-	9	1560	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1			32					CCAGATGCTCGCAAGAGAAAA	0.383000																								0							SO:0001587	stop_gained			ENST00000319170.5	0	1	hg19	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804315	0.90623	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	.	.	.	5.55	-0.0397	0.13875	.	0.000000	0.40222	N	0.001153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3466	15.9791	0.80094	0.0:0.0:0.4223:0.5777	.	.	.	.	X	421;421;473;448;446;473;446;421;448;473;446;421;448	.	ENSP00000311293:R473X	R	-	1	2	RAPH1	204028446	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	2.501000	0.45389	0.052000	0.16007	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	0	0	0	15	767	0	129	0	5.201654e-01	0	87	0	129	2		0	0	0	0	0	2	1	9.998515e-01	17	751	0	128	2								-2.266641	0	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.250000	0.140000	1.000000	0.240000	0.323184	0.250000	0	1.900000e-01	3.500000e-01
CTLA4	1493	broad.mit.edu	37	2	204737463	204737463	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204737463C>A	ENST00000302823.3	+	4	757	c.600C>A	c.(598-600)gtC>gtA	p.V200V	CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I|CTLA4_ENST00000427473.2_Missense_Mutation_p.L127I	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4			9				Ipilimumab(DB06186)	CAACAGGGGTCTATGTGAAAA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000302823.3	1	1	hg19	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062914	0.55432	.	.	ENSG00000163599	ENST00000295854;ENST00000472206;ENST00000427473	T;T	0.50277	0.75;1.48	5.72	4.82	0.62117	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.25026	N	0.991305	P	0.41041	0.736	B	0.38500	0.275	T	0.37384	-0.9708	8	0.87932	D	0	0.2161	13.2854	0.60241	0.1584:0.8416:0.0:0.0	.	69	P16410-4	.	I	164;69;127	ENSP00000295854:L164I;ENSP00000417779:L69I	ENSP00000295854:L164I	L	+	1	2	CTLA4	204445708	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.129000	0.42055	1.354000	0.45846	0.561000	0.74099	CTA		TCGA-IB-7651-01A-11D-2154-08	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	1	0	0	33	340	0	61	0	6.866262e-01	0	26	0	61	2		0	0	0	0	0	2	1	1	33	334	0	61	2								-2.920854	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.800000	1.000000	1.000000	0.979268	0.990000	1	9.500000e-01	1
PUM2	23369	broad.mit.edu	37	2	20511261	20511261	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20511261T>G	ENST00000361078.2	-	4	534	c.512A>C	c.(511-513)gAt>gCt	p.D171A	PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2			42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TTACTTAAAATCTTTGCAATC	0.323000																								0							SO:0001583	missense			ENST00000361078.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	25.8	4.672316	0.88348	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.21361	2.3;2.57;2.52;2.01;2.3;2.27	5.84	5.84	0.93424	.	0.041485	0.85682	D	0.000000	T	0.41534	0.1163	L	0.58101	1.795	0.80722	D	1	P;B;D	0.65815	0.944;0.295;0.995	P;B;P	0.62014	0.698;0.091;0.897	T	0.19712	-1.0297	10	0.62326	D	0.03	-6.8791	16.2055	0.82126	0.0:0.0:0.0:1.0	.	115;171;171	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	A	171;171;171;62;171;115;171	ENSP00000338173:D171A;ENSP00000354370:D171A;ENSP00000326746:D171A;ENSP00000409905:D62A;ENSP00000385992:D171A;ENSP00000440093:D115A	ENSP00000326746:D171A	D	-	2	0	PUM2	20374742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.220000	0.72140	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	28	209	0	38	1	9.999958e-01	35	116	0	38	2		0	0	0	0	0	2	1	1	27	203	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998993	0.990000	1	9.900000e-01	1
PARD3B	117583	broad.mit.edu	37	2	205983693	205983693	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205983693G>A	ENST00000406610.2	+	7	936	c.729G>A	c.(727-729)aaG>aaA	p.K243K	PARD3B_ENST00000349953.3_Silent_p.K243K|PARD3B_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000351153.1_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta			65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)			GCAGGTCCAAGCGGGAGGGAC	0.333000																								0							SO:0001819	synonymous_variant			ENST00000406610.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1	70	336	0	78	1	9.872359e-01	4	31	0	78	2		0	0	0	0	0	2	1	1	69	330	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARD3B	117583	broad.mit.edu	37	2	206110532	206110532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206110532C>T	ENST00000406610.2	+	16	2378	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	p.A662V(1)|p.A724V(1)|p.A663V(1)		65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)			CACTCATTGGCTGGACAAAAA	0.393000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000406610.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.32	1.603768	0.28534	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.31247	1.54;1.54;1.5;1.54	5.85	4.97	0.65823	.	0.164519	0.40728	N	0.001039	T	0.24236	0.0587	L	0.39633	1.23	0.35627	D	0.80992	P;B;B;P;B	0.39181	0.663;0.282;0.063;0.532;0.007	B;B;B;B;B	0.35607	0.206;0.102;0.026;0.175;0.013	T	0.21895	-1.0232	10	0.30854	T	0.27	.	12.6935	0.56990	0.0:0.9246:0.0:0.0754	.	724;724;724;662;724	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	724;662;724;724	ENSP00000385848:A724V;ENSP00000351618:A662V;ENSP00000317261:A724V;ENSP00000340280:A724V	ENSP00000340280:A724V	A	+	2	0	PARD3B	205818777	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.570000	0.45981	2.768000	0.95171	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1	107	310	0	69	1	9.999863e-01	9	41	0	69	2		0	0	0	0	0	2	1	1	105	306	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARD3B	117583	broad.mit.edu	37	2	206165326	206165326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206165326C>T	ENST00000406610.2	+	17	2465	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta			65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)			CTGCAGACTGCAGTGGCCGAG	0.532000																								0							SO:0001583	missense			ENST00000406610.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	26.1	4.704456	0.88924	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.34472	1.36;1.36;1.36	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.62233	0.2411	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.59643	-0.7416	10	0.46703	T	0.11	.	19.9376	0.97146	0.0:1.0:0.0:0.0	.	753;691;753	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	V	753;691;753	ENSP00000385848:A753V;ENSP00000351618:A691V;ENSP00000340280:A753V	ENSP00000340280:A753V	A	+	2	0	PARD3B	205873571	1.000000	0.71417	0.182000	0.23118	0.772000	0.43724	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1	121	618	0	115	0	9.860333e-01	0	36	0	115	2		0	0	0	0	0	2	1	1	118	612	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARD3B	117583	broad.mit.edu	37	2	206166414	206166414	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206166414C>T	ENST00000406610.2	+	18	2826	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	PARD3B_ENST00000349953.3_Silent_p.G873G|PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000351153.1_Silent_p.G804G|PARD3B_ENST00000358768.2_Silent_p.G811G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta			65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)			aggGCTTCGGCGCCATGCTGA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000406610.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1	51	221	0	59	1	9.999909e-01	7	71	0	59	2		0	0	0	0	0	2	1	1	49	214	0	57	2								-3.488731	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRP2	8828	broad.mit.edu	37	2	206590675	206590675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206590675C>T	ENST00000357785.5	+	6	890	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	NRP2_ENST00000360409.3_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W|NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000412873.2_Missense_Mutation_p.R287W			Q99435	NELL2_HUMAN	neuropilin 2			52					GGAGTCTGGCCGGATTGCTAA	0.547000																								0							SO:0001583	missense			ENST00000357785.5	1	1	hg19	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650759	0.67472	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	6.07	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.047005	0.85682	D	0.000000	D	0.97294	0.9115	L	0.56124	1.755	0.51012	D	0.999905	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.74023	0.963;0.963;0.982;0.98;0.98;0.919	D	0.96444	0.9329	10	0.66056	D	0.02	-15.2974	12.0479	0.53491	0.3823:0.5536:0.0:0.064	.	287;287;287;287;287;287	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	W	287	ENSP00000353582:R287W;ENSP00000439658:R287W;ENSP00000439261:R287W;ENSP00000347238:R287W;ENSP00000387519:R287W;ENSP00000349632:R287W;ENSP00000350432:R287W;ENSP00000407626:R287W;ENSP00000272849:R287W	ENSP00000272849:R287W	R	+	1	2	NRP2	206298920	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	1.166000	0.31834	0.387000	0.25024	-0.136000	0.14681	CGG		TCGA-IB-7651-01A-11D-2154-08	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	0	25	301	0	66	1	9.999916e-01	21	208	0	66	2		0	0	0	0	0	2	1	9.999999e-01	24	301	0	66	2								-2.806912	1	1	121412	1	34	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.650000	1.000000	1.000000	0.928792	0.990000	1	8.100000e-01	1
NRP2	8828	broad.mit.edu	37	2	206592644	206592644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206592644G>A	ENST00000357785.5	+	7	1051	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	NRP2_ENST00000360409.3_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T			Q99435	NELL2_HUMAN	neuropilin 2	p.T340T(1)		52					CCATGCTCACGGCCATCGCAA	0.502000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000357785.5	1	1	hg19	CCDS46496.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1	37	121	0	34	1	1	80	169	0	34	2		0	0	0	0	0	2	1	1	37	116	0	33	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRP2	8828	broad.mit.edu	37	2	206608031	206608031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206608031C>T	ENST00000357785.5	+	9	1427	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	NRP2_ENST00000360409.3_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C|NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000412873.2_Missense_Mutation_p.R466C			Q99435	NELL2_HUMAN	neuropilin 2			52					CAGTGCAGCCCGCCTGGTTAG	0.617000																								0							SO:0001583	missense			ENST00000357785.5	1	1	hg19	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432000	0.83776	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98619	1.0666	10	0.87932	D	0	-30.6319	20.3928	0.98949	0.0:1.0:0.0:0.0	.	466;466;466;466;466;466	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	466	ENSP00000353582:R466C;ENSP00000439658:R466C;ENSP00000439261:R466C;ENSP00000347238:R466C;ENSP00000387519:R466C;ENSP00000349632:R466C;ENSP00000350432:R466C;ENSP00000407626:R466C;ENSP00000272849:R466C	ENSP00000272849:R466C	R	+	1	0	NRP2	206316276	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.910000	0.56371	2.813000	0.96785	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1	287	875	0	169	1	1	66	199	0	169	2		0	0	0	0	0	2	1	1	286	853	0	160	2								-7.107024	1	1	121410	2	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRP2	8828	broad.mit.edu	37	2	206641143	206641143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206641143G>A	ENST00000357118.4	+	16	2630	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000412873.2_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2			52					CAAGAAGACCGATCACTCCAT	0.632000											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000357118.4	1	1	hg19	CCDS46498.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818869	0.71028	.	.	ENSG00000118257	ENST00000357118;ENST00000272849	D;D	0.87571	-2.26;-2.27	5.56	5.56	0.83823	.	.	.	.	.	D	0.85656	0.5747	.	.	.	0.80722	D	1	B;B	0.27765	0.188;0.188	B;B	0.26693	0.072;0.072	D	0.83503	0.0076	8	0.66056	D	0.02	.	19.5306	0.95228	0.0:0.0:1.0:0.0	.	867;872	O60462-4;O60462-5	.;.	N	867;872	ENSP00000349632:D867N;ENSP00000272849:D872N	ENSP00000272849:D872N	D	+	1	0	NRP2	206349388	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	5.299000	0.65716	2.609000	0.88269	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1	1	0	1	155	728	0	159	1	9.999927e-01	9	70	0	159	2		0	0	0	0	0	2	1	1	155	717	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRP2	8828	broad.mit.edu	37	2	206657010	206657010	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206657010G>A	ENST00000357785.5	+	16	2507		c.e16+1		NRP2_ENST00000360409.3_Splice_Site|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Splice_Site|NRP2_ENST00000412873.2_Intron			Q99435	NELL2_HUMAN	neuropilin 2			52					GAAATTGATGGTGAGTACTGT	0.333000																								0							SO:0001630	splice_region_variant			ENST00000357785.5	0	1	hg19	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787777	0.70337	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000357785	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRP2	206365255	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.542000	0.53625	2.941000	0.99782	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	0	0	0	10	452	0	93	1	1.165736e-02	6	1	0	93	2		0	0	0	0	0	2	1	9.965126e-01	11	439	0	93	2								-3.307563	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.290000	0.140000	1.000000	0.270000	0.360234	0.290000	0	2.000000e-01	4.300000e-01
NRP2	8828	broad.mit.edu	37	2	206659526	206659526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659526C>A	ENST00000357785.5	+	17	2556	c.2525C>A	c.(2524-2526)tCt>tAt	p.S842Y	NRP2_ENST00000360409.3_Missense_Mutation_p.S847Y|NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y			Q99435	NELL2_HUMAN	neuropilin 2			52					ACCTCAGGGTCTGGCGCCCCC	0.542000																								0							SO:0001583	missense			ENST00000357785.5	1	1	hg19	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630746	0.14322	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.88046	-2.2;-2.22;-2.29;-2.26;-2.33	5.93	5.93	0.95920	.	0.331275	0.31624	N	0.007325	T	0.75384	0.3842	N	0.08118	0	0.49915	D	0.999834	P;B;B	0.39282	0.666;0.205;0.14	B;B;B	0.36608	0.229;0.107;0.197	T	0.79274	-0.1871	10	0.59425	D	0.04	-6.0122	13.5312	0.61623	0.0:0.9294:0.0:0.0706	.	825;842;847	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	847;842;825;842;825	ENSP00000353582:S847Y;ENSP00000439658:S842Y;ENSP00000439261:S825Y;ENSP00000350432:S842Y;ENSP00000407626:S825Y	ENSP00000350432:S842Y	S	+	2	0	NRP2	206367771	0.915000	0.31059	0.406000	0.26421	0.046000	0.14306	2.831000	0.48144	2.826000	0.97356	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1	114	501	0	89	1	1	31	182	0	89	2		0	0	0	0	0	2	1	1	113	494	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRP2	8828	broad.mit.edu	37	2	206659634	206659634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659634G>A	ENST00000357785.5	+	17	2664	c.2633G>A	c.(2632-2634)tGt>tAt	p.C878Y	NRP2_ENST00000360409.3_Missense_Mutation_p.C883Y|NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y|NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y			Q99435	NELL2_HUMAN	neuropilin 2			52					GGGGCCACCTGTGCAGGCCTC	0.592000																								0							SO:0001583	missense			ENST00000357785.5	1	1	hg19	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123578	0.77436	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.94000	-2.98;-2.98;-3.33;-3.03;-3.28	6.17	6.17	0.99709	Neuropilin-1, C-terminal (1);	0.283286	0.45867	D	0.000335	D	0.96445	0.8840	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96002	0.8994	10	0.87932	D	0	-20.5075	20.8794	0.99867	0.0:0.0:1.0:0.0	.	861;878;883	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	Y	883;878;861;878;861	ENSP00000353582:C883Y;ENSP00000439658:C878Y;ENSP00000439261:C861Y;ENSP00000350432:C878Y;ENSP00000407626:C861Y	ENSP00000350432:C878Y	C	+	2	0	NRP2	206367879	1.000000	0.71417	0.917000	0.36280	0.669000	0.39330	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGT		TCGA-IB-7651-01A-11D-2154-08	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1	1	0	1	97	497	0	100	1	1	29	129	0	100	2		0	0	0	0	0	2	1	1	97	478	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INO80D	54891	broad.mit.edu	37	2	206869669	206869669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206869669G>A	ENST00000403263.1	-	11	2911	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D			26					GTAGGGAGACGGCACATGCTC	0.507000																								0							SO:0001583	missense			ENST00000403263.1	0	1	hg19	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525585	0.64860	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.38560	1.13	5.91	5.02	0.67125	.	0.166320	0.53938	D	0.000043	T	0.31575	0.0801	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	B	0.40285	0.325	T	0.04522	-1.0945	10	0.27785	T	0.31	.	17.0934	0.86627	0.0:0.1268:0.8732:0.0	.	836	Q53TQ3-2	.	L	836	ENSP00000384198:P836L	ENSP00000233270:P836L	P	-	2	0	INO80D	206577914	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.230000	0.95299	1.482000	0.48325	-0.175000	0.13238	CCG		TCGA-IB-7651-01A-11D-2154-08	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	0	0	0	17	999	0	175	0	6.484673e-03	0	7	0	175	2		0	0	0	0	0	2	1	9.999563e-01	16	977	0	172	2								-1.822541	0	1	121170	2	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.220000	0.120000	1.000000	0.210000	0.292085	0.220000	0	1.600000e-01	3.000000e-01
INO80D	54891	broad.mit.edu	37	2	206870181	206870181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206870181G>A	ENST00000403263.1	-	11	2399	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D			26					TCAGGCACTCGAGAGAAGTTA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000403263.1	1	1	hg19	CCDS46500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	1	0	1	53	241	0	60	1	3.018875e-01	2	4	0	60	2		0	0	0	0	0	2	1	1	52	237	0	60	2								-2.878869	1	1	120906	4	40	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFS1	4719	broad.mit.edu	37	2	207012502	207012502	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207012502T>C	ENST00000233190.6	-	6	661	c.395A>G	c.(394-396)gAc>gGc	p.D132G	NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)			38					ACCTCCCTGGTCACAAATAGG	0.363000																								0							SO:0001583	missense			ENST00000233190.6	1	1	hg19	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698959	0.88830	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.76	4.76	0.60689	NADH:ubiquinone oxidoreductase, 75kDa subunit, conserved site (1);NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding (2);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93671	0.6990	10	0.87932	D	0	-15.8477	14.5723	0.68220	0.0:0.0:0.0:1.0	.	21;96;146;132	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	G	132;75;16;96;146;132;21	ENSP00000233190:D132G;ENSP00000397760:D75G;ENSP00000400976:D16G;ENSP00000409766:D96G;ENSP00000392709:D146G;ENSP00000399912:D132G;ENSP00000409689:D21G	ENSP00000233190:D132G	D	-	2	0	NDUFS1	206720747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.890000	0.54733	0.482000	0.46254	GAC		TCGA-IB-7651-01A-11D-2154-08	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	1	0	1	156	407	0	113	1	1	90	131	0	113	2		0	0	0	0	0	2	1	1	153	395	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZDBF2	57683	broad.mit.edu	37	2	207169653	207169653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207169653G>A	ENST00000374423.3	+	5	787	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2			95					GTTTCAGTTCGACCATCAGTT	0.443000																								0							SO:0001583	missense			ENST00000374423.3	1	1	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040714	0.75732	.	.	ENSG00000204186	ENST00000374423	T	0.17854	2.25	5.16	4.28	0.50868	.	0.000000	0.29745	N	0.011318	T	0.25269	0.0614	L	0.53249	1.67	0.09310	N	1	D	0.61697	0.99	P	0.58331	0.837	T	0.14924	-1.0455	10	0.48119	T	0.1	.	3.991	0.09537	0.0872:0.2749:0.4964:0.1415	.	134	Q9HCK1	ZDBF2_HUMAN	Q	134	ENSP00000363545:R134Q	ENSP00000363545:R134Q	R	+	2	0	ZDBF2	206877898	0.012000	0.17670	0.811000	0.32455	0.976000	0.68499	0.947000	0.29082	2.402000	0.81655	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1	51	118	0	26	0	7.430712e-01	0	8	0	26	2		0	0	0	0	0	2	1	1	51	117	0	26	2								-6.479365	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZDBF2	57683	broad.mit.edu	37	2	207170780	207170780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207170780C>T	ENST00000374423.3	+	5	1914	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2			95					TGACTACCCCCAACAATCTGT	0.413000																								0							SO:0001587	stop_gained			ENST00000374423.3	0	1	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735202	0.96865	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.06	-0.121	0.13535	.	1.033700	0.07765	N	0.950725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.6918	0.17833	0.4899:0.4142:0.0:0.0959	.	.	.	.	X	510	.	ENSP00000363545:Q510X	Q	+	1	0	ZDBF2	206879025	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.100000	0.10990	-0.034000	0.13713	0.585000	0.79938	CAA		TCGA-IB-7651-01A-11D-2154-08	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1	39	236	0	68	0	3.800931e-01	0	9	0	68	2		0	0	0	0	0	2	1	1	39	232	0	68	2								-2.844841	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
ZDBF2	57683	broad.mit.edu	37	2	207172649	207172649	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172649G>T	ENST00000374423.3	+	5	3783	c.3397G>T	c.(3397-3399)Gta>Tta	p.V1133L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2			95					TCAACCCAAAGTAGCTATTAA	0.338000																								0							SO:0001583	missense			ENST00000374423.3	1	1	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706449	0.15239	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	4.25	-0.683	0.11335	.	.	.	.	.	T	0.25269	0.0614	N	0.24115	0.695	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.19257	-1.0311	9	0.16896	T	0.51	.	4.1078	0.10045	0.416:0.1852:0.3989:0.0	.	1133	Q9HCK1	ZDBF2_HUMAN	L	1133	ENSP00000363545:V1133L	ENSP00000363545:V1133L	V	+	1	0	ZDBF2	206880894	0.006000	0.16342	0.000000	0.03702	0.020000	0.10135	0.088000	0.14979	-0.149000	0.11215	0.650000	0.86243	GTA		TCGA-IB-7651-01A-11D-2154-08	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1	28	144	0	22	0	7.564935e-02	0	3	0	22	2		0	0	0	0	0	2	1	1	28	142	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ZDBF2	57683	broad.mit.edu	37	2	207172773	207172773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172773G>A	ENST00000374423.3	+	5	3907	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2			95					ATAGTCAATCGACCTCAAATA	0.373000																								0							SO:0001583	missense			ENST00000374423.3	1	1	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258166	0.10239	.	.	ENSG00000204186	ENST00000374423	T	0.42513	0.97	4.1	0.625	0.17665	.	.	.	.	.	T	0.13628	0.0330	N	0.02247	-0.625	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.28299	-1.0048	9	0.11794	T	0.64	.	3.4928	0.07644	0.4411:0.3476:0.2114:0.0	.	1174	Q9HCK1	ZDBF2_HUMAN	Q	1174	ENSP00000363545:R1174Q	ENSP00000363545:R1174Q	R	+	2	0	ZDBF2	206881018	0.102000	0.21896	0.081000	0.20488	0.046000	0.14306	0.242000	0.18087	0.089000	0.17243	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1	69	322	0	76	0	4.285006e-01	0	8	0	76	2		0	0	0	0	0	2	1	1	68	319	0	76	2								-4.029596	1	1	120814	26	46	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZDBF2	57683	broad.mit.edu	37	2	207175371	207175371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207175371G>A	ENST00000374423.3	+	5	6505	c.6119G>A	c.(6118-6120)cGg>cAg	p.R2040Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2			95					AATGATATTCGGTTTATATGC	0.353000																								0							SO:0001583	missense			ENST00000374423.3	1	1	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	4.347	0.063834	0.08388	.	.	ENSG00000204186	ENST00000374423	T	0.41065	1.01	5.79	-10.1	0.00402	.	.	.	.	.	T	0.12646	0.0307	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14392	-1.0474	9	0.11485	T	0.65	.	5.8344	0.18599	0.2615:0.1874:0.4593:0.0918	.	2040	Q9HCK1	ZDBF2_HUMAN	Q	2040	ENSP00000363545:R2040Q	ENSP00000363545:R2040Q	R	+	2	0	ZDBF2	206883616	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.302000	0.02746	-2.191000	0.00756	-1.155000	0.01812	CGG		TCGA-IB-7651-01A-11D-2154-08	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	1	12	76	0	23	0	2.697473e-01	0	7	0	23	2		0	0	0	0	0	2	1	9.993447e-01	12	76	0	23	2								-3.352871	1	1	120750	2	33	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.980000	1.000000	1.000000	0.996931	0.990000	1	9.900000e-01	1
ADAM23	8745	broad.mit.edu	37	2	207424741	207424741	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207424741G>A	ENST00000264377.3	+	11	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_ENST00000374416.1_Silent_p.K356K|ADAM23_ENST00000374415.3_Silent_p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23			51					GGACTGAGAAGGATCAGATTG	0.507000													Melanoma(194;1127 2130 19620 24042 27855)											0							SO:0001819	synonymous_variant			ENST00000264377.3	1	1	hg19	CCDS2369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	1	0	1	45	203	0	32	0	7.840148e-01	0	15	0	32	2		0	0	0	0	0	2	1	1	45	199	0	32	2								-3.143047	1	1	121412	2	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDH1B	130752	broad.mit.edu	37	2	207604335	207604335	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207604335T>C	ENST00000374412.3	-	11	1785	c.1510A>G	c.(1510-1512)Agt>Ggt	p.S504G	MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G|MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)			34					AACTCAAGACTCTGTGGCTTT	0.348000													Pancreas(76;29 1355 28675 37177 51207)											0							SO:0001583	missense			ENST00000374412.3	1	1	hg19	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965573	0.34659	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.34275	1.4;1.37;1.39	3.73	-0.204	0.13200	.	0.471361	0.15781	U	0.244910	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.25140	0.058;0.026	T	0.14504	-1.0470	10	0.87932	D	0	.	6.2416	0.20793	0.0:0.3261:0.0:0.6739	.	503;504	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	G	504;406;503	ENSP00000363533:S504G;ENSP00000416577:S406G;ENSP00000389916:S503G	ENSP00000363533:S504G	S	-	1	0	MDH1B	207312580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.117000	0.11872	-0.509000	0.04479	AGT		TCGA-IB-7651-01A-11D-2154-08	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	1	0	1	29	186	0	32	0	1.965924e-02	0	2	0	32	2		0	0	0	0	0	2	1	1	29	185	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999871	0.990000	1	9.900000e-01	1
MDH1B	130752	broad.mit.edu	37	2	207620181	207620181	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207620181G>A	ENST00000374412.3	-	5	737	c.462C>T	c.(460-462)ggC>ggT	p.G154G	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.G154G|MDH1B_ENST00000449792.1_Silent_p.G56G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)			34					CAAACACTTCGCCACTCGTCA	0.443000													Pancreas(76;29 1355 28675 37177 51207)											0							SO:0001819	synonymous_variant			ENST00000374412.3	1	1	hg19	CCDS33365.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	1	0	1	44	287	0	65	0	1.850031e-02	0	2	0	65	2		0	0	0	0	0	2	1	1	43	281	0	63	2								-3.222254	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
FASTKD2	22868	broad.mit.edu	37	2	207631704	207631704	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631704G>T	ENST00000236980.6	+	2	635	c.287G>T	c.(286-288)aGc>aTc	p.S96I	FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2			21					AAGGGCATAAGCACTCTAACA	0.338000																								0							SO:0001583	missense			ENST00000236980.6	1	1	hg19	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157315	0.21454	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.50548	2.38;0.74;2.38;2.38	4.92	1.03	0.20045	.	1.697270	0.02974	N	0.144720	T	0.34687	0.0906	L	0.33485	1.01	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.19666	0.026;0.012	T	0.20306	-1.0279	10	0.49607	T	0.09	0.102	0.461	0.00516	0.2458:0.1419:0.3209:0.2914	.	96;96	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	I	96	ENSP00000236980:S96I;ENSP00000409927:S96I;ENSP00000385990:S96I;ENSP00000384929:S96I	ENSP00000236980:S96I	S	+	2	0	FASTKD2	207339949	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.093000	0.15086	0.012000	0.14892	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	1	0	1	22	140	0	33	1	9.972327e-01	12	51	0	33	2		0	0	0	0	0	2	1	9.999991e-01	22	137	0	33	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999585	0.990000	1	9.900000e-01	1
FASTKD2	22868	broad.mit.edu	37	2	207631743	207631743	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631743C>T	ENST00000236980.6	+	2	674	c.326C>T	c.(325-327)gCt>gTt	p.A109V	FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2			21					CTACTTTATGCTAAAAGACTG	0.343000																								0							SO:0001583	missense			ENST00000236980.6	1	1	hg19	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251448	0.22880	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.48201	2.44;0.82;2.44;2.44	5.07	5.07	0.68467	.	0.870625	0.09920	N	0.738585	T	0.40767	0.1130	L	0.36672	1.1	0.09310	N	1	B;B	0.21225	0.053;0.031	B;B	0.18561	0.022;0.01	T	0.22941	-1.0202	10	0.66056	D	0.02	-5.462	10.885	0.46962	0.0:0.913:0.0:0.087	.	109;109	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	V	109	ENSP00000236980:A109V;ENSP00000409927:A109V;ENSP00000385990:A109V;ENSP00000384929:A109V	ENSP00000236980:A109V	A	+	2	0	FASTKD2	207339988	0.020000	0.18652	0.626000	0.29213	0.007000	0.05969	0.415000	0.21181	2.639000	0.89480	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	1	0	1	16	169	0	33	1	9.986007e-01	16	102	0	33	2		0	0	0	0	0	2	1	9.999326e-01	16	164	0	33	2								-19.996020	1	0	121408	1	29	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.670000	1.000000	1.000000	0.956155	0.990000	1	8.800000e-01	1
FASTKD2	22868	broad.mit.edu	37	2	207636969	207636969	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207636969G>A	ENST00000236980.6	+	6	1527	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	FASTKD2_ENST00000402774.3_Silent_p.Q393Q|FASTKD2_ENST00000403094.3_Silent_p.Q393Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2			21					AAGACCTCCAGTACCATAATT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000236980.6	0	1	hg19	CCDS2371.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	0	0	0	9	307	0	67	1	8.466203e-01	7	111	0	67	2		0	0	0	0	0	2	1	9.943114e-01	9	306	0	66	2								-9.781381	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.390000	0.180000	1.000000	0.360000	0.447585	0.390000	0	2.700000e-01	5.800000e-01
FASTKD2	22868	broad.mit.edu	37	2	207655375	207655375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207655375C>T	ENST00000236980.6	+	11	2326	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2			21					TATGAAAATGCGGCATTTGAA	0.368000																								0							SO:0001583	missense			ENST00000236980.6	1	1	hg19	CCDS2371.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.255743	0.80135	2.27E-4	0.0	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.54866	0.55;0.55;0.55	5.96	5.04	0.67666	RAP domain (3);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.83118	2.625	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.75596	-0.3263	10	0.87932	D	0	-5.9807	11.5783	0.50877	0.2574:0.7426:0.0:0.0	.	660	Q9NYY8	FAKD2_HUMAN	W	660	ENSP00000236980:R660W;ENSP00000385990:R660W;ENSP00000384929:R660W	ENSP00000236980:R660W	R	+	1	2	FASTKD2	207363620	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	0.806000	0.27126	2.832000	0.97577	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	1	0	1	85	631	0	136	1	9.999999e-01	39	124	0	136	2		0	0	0	0	0	2	1	1	83	621	0	136	2								-20.000000	1	1	121412	3	39	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CPO	130749	broad.mit.edu	37	2	207823081	207823081	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207823081C>T	ENST00000272852.3	+	4	370	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O			14					GTGGAATTCACGCCAGAGAAT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000272852.3	1	1	hg19	CCDS2372.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	1	0	0	40	985	0	186		0	0	0	0	186	2		0	0	0	0	0	2	1	1	40	969	0	186	2								-3.953157	1	1	121412	30	50	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.500000	0.350000	1.000000	0.490000	0.547648	0.500000	0	4.200000e-01	6.200000e-01
CPO	130749	broad.mit.edu	37	2	207824432	207824432	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824432T>C	ENST00000272852.3	+	5	496	c.450T>C	c.(448-450)ctT>ctC	p.L150L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O			14					TTCCAGTTCTTAACATAGATG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000272852.3	1	1	hg19	CCDS2372.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	0	0	0	7	272	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	9.802170e-01	7	270	0	67	2								-8.488920	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.350000	0.150000	1.000000	0.320000	0.413171	0.350000	0	2.300000e-01	5.400000e-01
CCNYL1	151195	broad.mit.edu	37	2	208589556	208589556	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208589556C>T	ENST00000295414.3	+	2	464	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S|CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1			5					TTCTGACCATCCAAGGGCAAG	0.368000																								0							SO:0001583	missense			ENST00000295414.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.1	3.937146	0.73557	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	T;T;T	0.48201	1.2;1.78;0.82	4.7	4.7	0.59300	.	0.129554	0.52532	U	0.000068	T	0.71169	0.3308	M	0.82823	2.61	0.42683	D	0.993554	D;D	0.71674	0.998;0.996	D;D	0.70487	0.969;0.931	T	0.77413	-0.2597	10	0.72032	D	0.01	.	17.5865	0.87983	0.0:1.0:0.0:0.0	.	85;85	Q8N7R7-2;Q8N7R7	.;CCYL1_HUMAN	S	15;85;85	ENSP00000376045:P15S;ENSP00000295414:P85S;ENSP00000342344:P85S	ENSP00000295414:P85S	P	+	1	0	CCNYL1	208297801	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	3.083000	0.50136	2.321000	0.78463	0.555000	0.69702	CCA		TCGA-IB-7651-01A-11D-2154-08	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	1	0	1	25	116	0	29	1	9.986341e-01	5	47	0	29	2		0	0	0	0	0	2	1	9.999999e-01	24	114	0	29	2								-3.459044	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
GDF7	151449	broad.mit.edu	37	2	20871120	20871120	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20871120G>A	ENST00000272224.3	+	2	1864	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7			7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTACATCGACGCCGCCAACAA	0.662000																								0							SO:0001583	missense			ENST00000272224.3	1	1	hg19	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164266	0.78339	.	.	ENSG00000143869	ENST00000272224	D	0.83992	-1.79	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.102833	0.38272	U	0.001750	D	0.83166	0.5195	L	0.27975	0.815	0.35487	D	0.798625	D	0.71674	0.998	D	0.65010	0.931	D	0.87335	0.2327	10	0.66056	D	0.02	.	11.3575	0.49623	0.0:0.0:0.706:0.294	.	430	Q7Z4P5	GDF7_HUMAN	T	430	ENSP00000272224:A430T	ENSP00000272224:A430T	A	+	1	0	GDF7	20734601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.357000	0.44125	2.187000	0.69744	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	1	0	1	28	168	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	28	166	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
PLEKHM3	389072	broad.mit.edu	37	2	208725853	208725853	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208725853G>T	ENST00000427836.2	-	7	2573	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695H	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3			19					ATCCTCAAAAGGGTAGAGGAT	0.398000																								0							SO:0001583	missense			ENST00000427836.2	0	1	hg19	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549105	0.86127	.	.	ENSG00000178385	ENST00000427836;ENST00000389247	D;D	0.87412	-2.23;-2.25	5.06	5.06	0.68205	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95942	0.8947	10	0.87932	D	0	.	18.9822	0.92758	0.0:0.0:1.0:0.0	.	695	Q6ZWE6	PKHM3_HUMAN	H	695	ENSP00000417003:P695H;ENSP00000373899:P695H	ENSP00000373899:P695H	P	-	2	0	PLEKHM3	208434098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.597000	0.98273	2.763000	0.94921	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	0	0	0	11	622	0	152	0	3.359366e-02	0	15	0	152	2		0	0	0	0	0	2	1	9.982136e-01	11	613	0	150	2								-2.132828	0	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.230000	0.110000	1.000000	0.230000	0.305621	0.230000	0	1.600000e-01	3.400000e-01
PLEKHM3	389072	broad.mit.edu	37	2	208811193	208811193	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208811193C>T	ENST00000427836.2	-	4	2079	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	PLEKHM3_ENST00000457206.1_Silent_p.V530V|PLEKHM3_ENST00000389247.4_Silent_p.V530V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3			19					TGTAGTTGCACACCTTGGCTT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000427836.2	1	1	hg19	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269919	0.23221	.	.	ENSG00000178385	ENST00000447645	D	0.83992	-1.79	6.04	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90716	0.4631	7	0.66056	D	0.02	.	16.2164	0.82224	0.0:0.7491:0.2509:0.0	.	.	.	.	M	282	ENSP00000395354:V282M	ENSP00000395354:V282M	V	-	1	0	PLEKHM3	208519438	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.857000	0.27831	1.528000	0.49103	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	1	0	1	156	503	0	112	1	9.003274e-01	9	6	0	112	2		0	0	0	0	0	2	1	1	155	498	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHM3	389072	broad.mit.edu	37	2	208841720	208841720	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208841720G>T	ENST00000427836.2	-	3	1690	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.P401T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P401T	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3			19					CTCAACAGTGGATCCTCGTCT	0.507000																								0							SO:0001583	missense			ENST00000427836.2	0	1	hg19	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.370651|3.370651	0.61624|0.61624	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	T;T;T|.	0.15834|.	2.39;2.39;2.39|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69106|0.69106	0.3074|0.3074	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.63075|0.63075	-0.6718|-0.6718	10|5	0.59425|.	D|.	0.04|.	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	401;401|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	T|Y	401|152	ENSP00000417003:P401T;ENSP00000373899:P401T;ENSP00000400150:P401T|.	ENSP00000373899:P401T|.	P|S	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208549965|208549965	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.347000|0.347000	0.29111|0.29111	7.103000|7.103000	0.77014|0.77014	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CCA|TCC		TCGA-IB-7651-01A-11D-2154-08	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	0	0	0	8	244	0	56	0	4.097858e-02	0	9	0	56	2		0	0	0	0	0	2	1	9.893490e-01	8	242	0	56	2								-3.775287	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.440000	0.200000	1.000000	0.400000	0.491881	0.440000	0	3.000000e-01	6.600000e-01
CRYGD	1421	broad.mit.edu	37	2	208986578	208986578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208986578C>T	ENST00000264376.4	-	3	371	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D			5					GAAGCGGAAGCGGTCCTGAAG	0.562000																								0							SO:0001583	missense			ENST00000264376.4	1	1	hg19	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528104	0.44969	.	.	ENSG00000118231	ENST00000264376	T	0.75704	-0.96	4.25	3.34	0.38264	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.065041	0.64402	D	0.000007	T	0.70029	0.3177	M	0.78223	2.4	0.40858	D	0.983814	B	0.16396	0.017	B	0.17433	0.018	T	0.66221	-0.5978	10	0.40728	T	0.16	.	5.9174	0.19063	0.0:0.7564:0.0:0.2436	.	115	P07320	CRGD_HUMAN	H	115	ENSP00000264376:R115H	ENSP00000264376:R115H	R	-	2	0	CRYGD	208694823	0.093000	0.21703	1.000000	0.80357	0.990000	0.78478	0.550000	0.23345	0.947000	0.37659	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	1	0	1	109	495	0	123	0	0	1	0	0	123	2		0	0	0	0	0	2	1	1	105	489	0	121	2								-3.374514	1	1	121412	3	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRYGC	1420	broad.mit.edu	37	2	208994239	208994239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208994239G>A	ENST00000282141.3	-	2	215	c.178C>T	c.(178-180)Cga>Tga	p.R60*		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C			9					TACTCCCCTCGCCGCAGCAAG	0.567000																								0							SO:0001587	stop_gained			ENST00000282141.3	0	1	hg19	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067463	0.55539	.	.	ENSG00000163254	ENST00000282141	.	.	.	4.98	1.9	0.25705	.	0.230620	0.30575	N	0.009330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9314	0.63998	0.0:0.0:0.5404:0.4596	.	.	.	.	X	60	.	ENSP00000282141:R60X	R	-	1	2	CRYGC	208702484	0.000000	0.05858	0.987000	0.45799	0.293000	0.27360	0.281000	0.18810	0.211000	0.20683	-2.048000	0.00412	CGA		TCGA-IB-7651-01A-11D-2154-08	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	1	0	1	195	507	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	195	498	0	132	2								-20.000000	1	1	121412	1	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRYGB	1419	broad.mit.edu	37	2	209010739	209010739	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209010739A>G	ENST00000260988.4	-	2	58	c.11T>C	c.(10-12)aTc>aCc	p.I4T		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B			14					GTAGAAGGTGATCTGAAAAAT	0.562000																								0							SO:0001630	splice_region_variant			ENST00000260988.4	1	0	hg19	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985896	0.74589	.	.	ENSG00000182187	ENST00000260988	D	0.82255	-1.59	4.62	4.62	0.57501	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96008	0.8999	10	0.87932	D	0	.	12.2776	0.54744	1.0:0.0:0.0:0.0	.	4	P07316	CRGB_HUMAN	T	4	ENSP00000260988:I4T	ENSP00000260988:I4T	I	-	2	0	CRYGB	208718984	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.107000	0.94261	2.065000	0.61736	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	1	0	1	109	322	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	107	311	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IDH1	3417	broad.mit.edu	37	2	209113362	209113362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209113362G>A	ENST00000415913.1	-	4	526	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	IDH1_ENST00000345146.2_Missense_Mutation_p.R49C|IDH1_ENST00000446179.1_Missense_Mutation_p.R49C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble			4887					GTGGCATCACGATTCTCTATG	0.398000			Mis		gliobastoma								Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	isocitrate dehydrogenase 1 (NADP+), soluble		O	0							SO:0001583	missense			ENST00000415913.1	1	1	hg19	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759019	0.69763	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282;ENST00000417583;ENST00000451391	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.4	4.51	0.55191	Isopropylmalate dehydrogenase-like domain (2);	0.047279	0.85682	D	0.000000	T	0.81375	0.4809	H	0.99347	4.525	0.80722	D	1	B	0.18166	0.026	B	0.14578	0.011	T	0.82853	-0.0252	10	0.87932	D	0	-30.6508	15.4143	0.74952	0.0:0.0:0.8597:0.1403	.	49	O75874	IDHC_HUMAN	C	49	ENSP00000260985:R49C;ENSP00000410513:R49C;ENSP00000390265:R49C;ENSP00000391075:R49C;ENSP00000409045:R49C;ENSP00000396787:R49C	ENSP00000260985:R49C	R	-	1	0	IDH1	208821607	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	6.406000	0.73276	1.246000	0.43901	0.555000	0.69702	CGT		TCGA-IB-7651-01A-11D-2154-08	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1	1	0	1	99	279	0	54	1	1	111	321	0	54	2		0	0	0	0	0	2	1	1	99	275	0	53	2								-5.943906	1	1	121412	1	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIKFYVE	200576	broad.mit.edu	37	2	209180055	209180055	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209180055G>T	ENST00000264380.4	+	15	2123	c.1965G>T	c.(1963-1965)caG>caT	p.Q655H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing			107					TCAAGAACCAGGATGATGACA	0.448000																								0							SO:0001583	missense			ENST00000264380.4	1	1	hg19	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397805	0.42512	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.13901	2.55;2.55	5.85	4.0	0.46444	.	0.217092	0.37623	N	0.002001	T	0.10809	0.0264	L	0.27053	0.805	0.80722	D	1	B;B	0.30793	0.196;0.295	B;B	0.38156	0.183;0.266	T	0.15150	-1.0447	10	0.45353	T	0.12	-5.7273	5.2577	0.15555	0.1663:0.0:0.6435:0.1902	.	655;599	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	H	655;231;599	ENSP00000264380:Q655H;ENSP00000405736:Q599H	ENSP00000264380:Q655H	Q	+	3	2	PIKFYVE	208888300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.472000	0.35376	1.403000	0.46800	0.585000	0.79938	CAG		TCGA-IB-7651-01A-11D-2154-08	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	0	0	0	9	277	0	58	1	3.039718e-01	3	29	0	58	2		0	0	0	0	0	2	1	9.939492e-01	8	273	0	57	2								-3.336904	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.430000	0.200000	1.000000	0.400000	0.484476	0.430000	0	3.000000e-01	6.400000e-01
C2orf43	60526	broad.mit.edu	37	2	20939749	20939749	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20939749A>C	ENST00000237822.3	-	5	764	c.685T>G	c.(685-687)Tta>Gta	p.L229V	C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43			6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				AATGGTTCTAATATATTCAAT	0.343000																								0							SO:0001583	missense			ENST00000237822.3	1	1	hg19	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368363	0.24771	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.47869	0.83;1.56;0.83	5.76	-2.53	0.06326	.	0.579646	0.16566	N	0.208842	T	0.41236	0.1150	L	0.47716	1.5	0.21627	N	0.999619	P;P;B;P	0.47677	0.846;0.899;0.197;0.786	B;P;B;P	0.47941	0.34;0.514;0.378;0.562	T	0.45366	-0.9266	10	0.20046	T	0.44	-1.5435	11.3086	0.49351	0.3846:0.0:0.6154:0.0	.	187;181;229;229	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	V	99;229;229;181;99;99	ENSP00000384267:L99V;ENSP00000388635:L181V;ENSP00000440570:L99V	ENSP00000237822:L229V	L	-	1	2	C2orf43	20803230	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.023000	0.12456	-0.259000	0.09432	-0.297000	0.09499	TTA		TCGA-IB-7651-01A-11D-2154-08	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	1	0	1	126	357	0	82	1	9.972893e-01	9	19	0	82	2		0	0	0	0	0	2	1	1	126	349	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP2	4133	broad.mit.edu	37	2	210559824	210559824	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559824C>T	ENST00000360351.4	+	7	3436	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2			124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAGAACATGCCAAGAAAACT	0.393000													Pancreas(27;423 979 28787 29963)											0							SO:0001583	missense			ENST00000360351.4	1	1	hg19	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440411	0.25900	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25579	1.79;1.79	5.79	3.0	0.34707	MAP2/Tau projection (1);	0.609412	0.15636	N	0.252128	T	0.17365	0.0417	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.22730	-1.0208	10	0.34782	T	0.22	-1.6898	4.7164	0.12898	0.1255:0.6122:0.1215:0.1408	.	973;977	P11137-3;P11137	.;MAP2_HUMAN	V	977;973	ENSP00000353508:A977V;ENSP00000392164:A973V	ENSP00000353508:A977V	A	+	2	0	MAP2	210268069	0.009000	0.17119	0.042000	0.18584	0.780000	0.44128	0.870000	0.28010	0.361000	0.24292	-0.894000	0.02916	GCC		TCGA-IB-7651-01A-11D-2154-08	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	1	0	1	87	373	0	77	0	4.673266e-01	1	7	0	77	2		0	0	0	0	0	2	1	1	86	370	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPE	6120	broad.mit.edu	37	2	210880820	210880820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210880820G>A	ENST00000359429.6	+	3	423	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase			9					AAAGACATTCGGGAGAATGGG	0.438000																								0							SO:0001583	missense			ENST00000359429.6	1	1	hg19	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154513	0.57259	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000453724;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.42	5.42	0.78866	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.177006	0.48767	D	0.000162	T	0.72120	0.3421	M	0.74881	2.28	0.58432	D	0.999994	B;D;P;B;B	0.55800	0.377;0.973;0.751;0.322;0.259	B;P;B;B;B	0.50352	0.199;0.638;0.179;0.063;0.122	T	0.72497	-0.4275	9	0.39692	T	0.17	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	109;96;83;109;109	B4E016;B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;.;RPE_HUMAN;.	Q	109;41;41;41;41;41;109;41;41;41;41;109;41;41;109;83	.	ENSP00000346501:R83Q	R	+	2	0	RPE	210589065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.282000	0.72639	2.691000	0.91804	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	1	0	1	78	217	0	64	1	1	37	108	0	64	2		0	0	0	0	0	2	1	1	75	214	0	64	2								-5.007506	1	0	121412	1	23	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPE	6120	broad.mit.edu	37	2	210882204	210882204	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210882204G>T	ENST00000359429.6	+	5	582	c.485G>T	c.(484-486)tGg>tTg	p.W162L	RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000540255.1_Intron|RPE_ENST00000452025.1_Missense_Mutation_p.W162L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase			9					TAGGTTCACTGGTTGAGGACC	0.453000																								0							SO:0001583	missense			ENST00000359429.6	1	1	hg19	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007901	0.35415	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.34	5.34	0.76211	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	N	0.24115	0.695	0.80722	D	1	D;B;B;B	0.60160	0.987;0.002;0.001;0.001	P;B;B;B	0.61275	0.886;0.01;0.006;0.003	T	0.51434	-0.8706	9	0.11182	T	0.66	.	19.0147	0.92889	0.0:0.0:1.0:0.0	.	132;154;162;162	B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	L	162;112;94;112;112;112;94;94;94;162;94;94;162;154	.	ENSP00000346501:W154L	W	+	2	0	RPE	210590449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.438000	0.97539	2.654000	0.90174	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	1	0	1	70	287	0	73	1	1	41	169	0	73	2		0	0	0	0	0	2	1	1	70	280	0	71	2								-3.224172	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACADL	33	broad.mit.edu	37	2	211074960	211074960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211074960G>A	ENST00000233710.3	-	5	790	c.563C>T	c.(562-564)gCt>gTt	p.A188V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain			14		Renal(323;0.202)			ATCCTTTTTAGCATTTGTTTT	0.303000																								0							SO:0001583	missense			ENST00000233710.3	1	1	hg19	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064141	0.93898	.	.	ENSG00000115361	ENST00000233710	D	0.99814	-6.89	5.33	5.33	0.75918	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97008	0.9734	10	0.87932	D	0	.	19.0113	0.92874	0.0:0.0:1.0:0.0	.	188	P28330	ACADL_HUMAN	V	188	ENSP00000233710:A188V	ENSP00000233710:A188V	A	-	2	0	ACADL	210783205	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.176000	0.94839	2.497000	0.84241	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	1	0	1	183	579	0	117	0	3.479163e-01	1	4	0	117	2		0	0	0	0	0	2	1	1	181	569	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LANCL1	10314	broad.mit.edu	37	2	211319832	211319832	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211319832G>A	ENST00000443314.1	-	3	748	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	LANCL1_ENST00000233714.4_Splice_Site_p.R136W|LANCL1_ENST00000450366.2_Splice_Site_p.R136W|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Splice_Site_p.R136W|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Splice_Site_p.R136W			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)			12					CATGATTACCGTGTGATGCAA	0.413000																								0							SO:0001630	splice_region_variant			ENST00000443314.1	1	0	hg19	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129799	0.37630	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.64	1.57	0.23409	Six-hairpin glycosidase-like (1);	0.098347	0.64402	D	0.000001	T	0.61048	0.2316	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	T	0.63915	-0.6529	10	0.87932	D	0	.	9.3467	0.38113	0.0647:0.0:0.4569:0.4783	.	136	O43813	LANC1_HUMAN	W	136	ENSP00000388713:R136W;ENSP00000393323:R136W;ENSP00000393597:R136W;ENSP00000233714:R136W;ENSP00000397646:R136W;ENSP00000396518:R136W	ENSP00000233714:R136W	R	-	1	2	LANCL1	211028077	0.990000	0.36364	0.641000	0.29422	0.121000	0.20230	1.256000	0.32921	0.406000	0.25560	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	1	0	1	90	295	0	66	1	1	56	81	0	66	2		0	0	0	0	0	2	1	1	88	291	0	66	2								-20.000000	1	1	121394	2	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPS1	1373	broad.mit.edu	37	2	211454881	211454881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211454881G>A	ENST00000233072.5	+	8	959	c.763G>A	c.(763-765)Gag>Aag	p.E255K	CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial			142				Carglumic Acid(DB06775)	CACCAAGATGGAGTATGATGG	0.443000																								0							SO:0001583	missense			ENST00000233072.5	1	1	hg19	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571917	0.65765	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.89875	-2.58;-2.58	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.150178	0.64402	D	0.000018	D	0.85796	0.5780	L	0.37897	1.145	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.79225	-0.1891	10	0.38643	T	0.18	-1.1782	20.2885	0.98538	0.0:0.0:1.0:0.0	.	265;255	Q59HF8;P31327	.;CPSM_HUMAN	K	261;263;255;255	ENSP00000402608:E261K;ENSP00000233072:E255K	ENSP00000233072:E255K	E	+	1	0	CPS1	211163126	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.500000	0.81588	2.791000	0.96007	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	0	0	1	309	1045	0	292	0	5.231696e-02	1	1	0	292	2		0	0	0	0	0	2	1	1	304	1023	0	291	2								-20.000000	1	1	121412	2	39	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPS1	1373	broad.mit.edu	37	2	211481151	211481151	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211481151T>A	ENST00000233072.5	+	21	2769	c.2573T>A	c.(2572-2574)aTt>aAt	p.I858N	CPS1_ENST00000430249.2_Missense_Mutation_p.I864N|CPS1_ENST00000451903.2_Missense_Mutation_p.I407N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial			142				Carglumic Acid(DB06775)	TGGCAGGCCATTGATGACAAC	0.358000																								0							SO:0001583	missense			ENST00000233072.5	1	1	hg19	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786943	0.49997	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96940	-4.18;-4.18;-4.18	5.41	5.41	0.78517	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.354656	0.29900	N	0.010913	D	0.95178	0.8437	M	0.62088	1.915	0.34698	D	0.726462	P;P	0.43477	0.808;0.537	B;B	0.40285	0.325;0.325	D	0.99694	1.1002	10	0.87932	D	0	-3.1683	15.7337	0.77825	0.0:0.0:0.0:1.0	.	868;858	Q59HF8;P31327	.;CPSM_HUMAN	N	864;866;858;407	ENSP00000402608:I864N;ENSP00000233072:I858N;ENSP00000406136:I407N	ENSP00000233072:I858N	I	+	2	0	CPS1	211189396	0.999000	0.42202	0.603000	0.28903	0.669000	0.39330	7.400000	0.79949	2.169000	0.68431	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	1	0	1	87	470	0	89	0	1.199546e-01	0	4	0	89	2		0	0	0	0	0	2	1	1	85	461	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPS1	1373	broad.mit.edu	37	2	211502491	211502491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211502491C>A	ENST00000233072.5	+	22	2949	c.2753C>A	c.(2752-2754)tCa>tAa	p.S918*	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*|CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial			142				Carglumic Acid(DB06775)	AAGCAGATTTCAAAATGCCTT	0.438000																								0							SO:0001587	stop_gained			ENST00000233072.5	0	1	hg19	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	40	8.056447	0.98632	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.47	5.47	0.80525	.	0.110943	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.9867	14.2331	0.65906	0.0:0.7351:0.2649:0.0	.	.	.	.	X	924;926;918;467	.	ENSP00000233072:S918X	S	+	2	0	CPS1	211210736	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.994000	0.70623	2.708000	0.92522	0.650000	0.86243	TCA		TCGA-IB-7651-01A-11D-2154-08	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	1	0	0	83	338	0	79	0	7.568874e-01	0	13	0	79	2		0	0	0	0	0	2	1	1	83	334	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPS1	1373	broad.mit.edu	37	2	211521337	211521337	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211521337G>A	ENST00000233072.5	+	30	3843	c.3647G>A	c.(3646-3648)aGc>aAc	p.S1216N	CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N|CPS1_ENST00000451903.2_Missense_Mutation_p.S765N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial			142				Carglumic Acid(DB06775)	CAAACCATCAGCCAAGGGGCC	0.408000																								0							SO:0001583	missense			ENST00000233072.5	1	1	hg19	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380057	0.24944	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97161	-4.27;-4.27;-4.27	6.08	6.08	0.98989	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.63843	1.955	0.58432	D	0.999998	P;P	0.37141	0.584;0.584	B;B	0.39971	0.315;0.315	D	0.93651	0.6973	10	0.02654	T	1	-10.9857	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1226;1216	Q59HF8;P31327	.;CPSM_HUMAN	N	1222;1224;1216;765	ENSP00000402608:S1222N;ENSP00000233072:S1216N;ENSP00000406136:S765N	ENSP00000233072:S1216N	S	+	2	0	CPS1	211229582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.894000	0.99253	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	1	0	1	81	230	0	54	0	5.782668e-01	0	7	0	54	2		0	0	0	0	0	2	1	1	79	222	0	54	2								-5.683313	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPS1	1373	broad.mit.edu	37	2	211533008	211533008	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211533008G>A	ENST00000233072.5	+	34	4297	c.4101G>A	c.(4099-4101)caG>caA	p.Q1367Q	CPS1_ENST00000430249.2_Splice_Site_p.Q1373Q|CPS1_ENST00000451903.2_Splice_Site_p.Q916Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial			142				Carglumic Acid(DB06775)	TAGGCATCCAGGTAAGTGGTT	0.473000																								0							SO:0001630	splice_region_variant			ENST00000233072.5	1	0	hg19	CCDS2393.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	1	0	1	95	248	0	85	0	6.962888e-01	1	7	0	85	2		0	0	0	0	0	2	1	1	92	244	0	84	2								-6.415793	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21224719	21224719	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21224719A>C	ENST00000233242.1	-	29	13702	c.13575T>G	c.(13573-13575)atT>atG	p.I4525M	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GGTAGTTTTGAATGGACAGGT	0.378000																								0							SO:0001583	missense			ENST00000233242.1	1	1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384456	0.61845	.	.	ENSG00000084674	ENST00000233242	T	0.37058	1.22	5.68	2.93	0.34026	.	0.218872	0.31884	N	0.006919	T	0.28797	0.0714	L	0.60455	1.87	0.80722	D	1	P	0.44429	0.835	B	0.40864	0.342	T	0.18241	-1.0343	10	0.72032	D	0.01	.	1.1843	0.01852	0.5206:0.1313:0.1521:0.1959	.	4525	P04114	APOB_HUMAN	M	4525	ENSP00000233242:I4525M	ENSP00000233242:I4525M	I	-	3	3	APOB	21078224	0.994000	0.37717	1.000000	0.80357	0.938000	0.57974	0.387000	0.20718	0.957000	0.37930	0.482000	0.46254	ATT		TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0	0	0	27	808	0	160	0	0	0	1	0	160	2		0	0	0	0	0	2	1	9.999999e-01	26	791	0	158	2								-19.994190	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.410000	0.270000	0.580000	0.420000	0.425351	0.410000	0	3.400000e-01	5.000000e-01
ERBB4	2066	broad.mit.edu	37	2	212251629	212251629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212251629C>A	ENST00000342788.4	-	27	3740	c.3430G>T	c.(3430-3432)Gag>Tag	p.E1144*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	TCATCCAGCTCTCCTCGTGGG	0.527000										TSP Lung(8;0.080)														0							SO:0001587	stop_gained			ENST00000342788.4	0	1	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	40	8.171377	0.98688	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.6	5.6	0.85130	.	0.174945	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.6171	0.95638	0.0:1.0:0.0:0.0	.	.	.	.	X	1144;1128;1134	.	ENSP00000342235:E1144X	E	-	1	0	ERBB4	211959874	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.396000	0.66297	2.638000	0.89438	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	0	39	459	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	38	453	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.720000	1.000000	1.000000	0.947163	0.990000	1	8.500000e-01	1
APOB	338	broad.mit.edu	37	2	21226159	21226159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21226159G>A	ENST00000233242.1	-	29	12262	c.12135C>T	c.(12133-12135)gtC>gtT	p.V4045V	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CAGATTCCCGGACCCTCAACT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000233242.1	1	1	hg19	CCDS1703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1	275	1543	0	360		0	0	0	0	360	2		0	0	0	0	0	2	1	1	269	1511	0	358	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB4	2066	broad.mit.edu	37	2	212285171	212285171	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285171T>C	ENST00000342788.4	-	25	3440	c.3130A>G	c.(3130-3132)Aat>Gat	p.N1044D	ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D|ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	CTTACCCTATTCGAGTCAATT	0.343000										TSP Lung(8;0.080)														0							SO:0001583	missense			ENST00000342788.4	1	1	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176860	0.57692	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74737	-0.87;-0.87;-0.87	5.88	5.88	0.94601	.	0.047923	0.85682	D	0.000000	T	0.61098	0.2320	N	0.08118	0	0.58432	D	0.999992	P;B;P;P	0.41848	0.763;0.03;0.763;0.651	B;B;B;B	0.42361	0.385;0.049;0.385;0.214	T	0.66460	-0.5918	10	0.42905	T	0.14	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	1034;1034;1044;1044	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	1044;1044;1034	ENSP00000342235:N1044D;ENSP00000403204:N1044D;ENSP00000385565:N1034D	ENSP00000342235:N1044D	N	-	1	0	ERBB4	211993416	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.668000	0.83897	2.243000	0.73865	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1	36	114	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	36	113	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB4	2066	broad.mit.edu	37	2	212285274	212285274	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285274A>G	ENST00000342788.4	-	25	3337	c.3027T>C	c.(3025-3027)gaT>gaC	p.D1009D	ERBB4_ENST00000402597.1_Silent_p.D999D|ERBB4_ENST00000436443.1_Silent_p.D1009D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	AATCCTCTTCATCCAAGAGAT	0.428000										TSP Lung(8;0.080)														0							SO:0001819	synonymous_variant			ENST00000342788.4	1	1	hg19	CCDS2394.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	0	59	182	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	58	180	0	50	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB4	2066	broad.mit.edu	37	2	212285328	212285328	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285328A>G	ENST00000342788.4	-	25	3283	c.2973T>C	c.(2971-2973)gaT>gaC	p.D991D	ERBB4_ENST00000402597.1_Silent_p.D981D|ERBB4_ENST00000436443.1_Silent_p.D991D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	GCTTCATACGATCATCACCCT	0.363000										TSP Lung(8;0.080)														0							SO:0001819	synonymous_variant			ENST00000342788.4	1	1	hg19	CCDS2394.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1	72	193	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	71	190	0	51	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	p.R3558H(1)		305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GGAATATATGCGTTGGAGTGT	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000233242.1	1	1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852750	0.51270	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79454	-1.27	5.85	3.74	0.42951	.	0.000000	0.64402	D	0.000016	D	0.86727	0.6002	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.41790	T	0.15	.	13.4888	0.61382	0.0:0.8527:0.0:0.1473	.	3558	P04114	APOB_HUMAN	H	3558	ENSP00000233242:R3558H	ENSP00000233242:R3558H	R	-	2	0	APOB	21082572	0.839000	0.29477	0.956000	0.39512	0.530000	0.34684	1.707000	0.37888	1.478000	0.48253	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0	0	1	135	322	0	80	0	0	0	1	0	80	2		0	0	0	0	0	2	1	1	133	318	0	79	2								-20.000000	1	0	121412	2	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21229127	21229127	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229127A>C	ENST00000233242.1	-	26	10740	c.10613T>G	c.(10612-10614)aTt>aGt	p.I3538S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GATATCATCAATTTTGGAAGT	0.433000																								0							SO:0001583	missense			ENST00000233242.1	1	1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.456899	0.26161	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.78595	-1.19	5.85	4.64	0.57946	.	0.838313	0.10117	N	0.713988	T	0.65883	0.2734	N	0.22421	0.69	0.34222	D	0.675498	B	0.29378	0.243	B	0.25987	0.065	T	0.67264	-0.5714	10	0.87932	D	0	.	8.7714	0.34735	0.7795:0.0:0.2205:0.0	.	3538	P04114	APOB_HUMAN	S	3538	ENSP00000233242:I3538S	ENSP00000233242:I3538S	I	-	2	0	APOB	21082632	0.000000	0.05858	0.010000	0.14722	0.345000	0.29048	0.656000	0.24948	0.964000	0.38108	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1	173	550	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1	173	538	0	126	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21233266	21233266	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233266A>G	ENST00000233242.1	-	26	6601	c.6474T>C	c.(6472-6474)atT>atC	p.I2158I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CATCTAATGCAATTTGTATAT	0.299000																								0							SO:0001819	synonymous_variant			ENST00000233242.1	1	1	hg19	CCDS1703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1	32	78	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	1	30	77	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21233848	21233848	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233848A>G	ENST00000233242.1	-	26	6019	c.5892T>C	c.(5890-5892)ctT>ctC	p.L1964L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTTTGTGTTCAAGAGCTGCAC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000233242.1	1	1	hg19	CCDS1703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1	197	491	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	193	483	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21236120	21236120	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21236120G>A	ENST00000233242.1	-	25	4255	c.4128C>T	c.(4126-4128)ggC>ggT	p.G1376G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TGCTGGTGTTGCCACCACTGT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000233242.1	1	1	hg19	CCDS1703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1	239	725	0	202		0	0	0	0	202	2		0	0	0	0	0	2	1	1	237	717	0	201	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21238318	21238318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21238318G>A	ENST00000233242.1	-	22	3559	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GAAGCAGTTTGGCAGGCGACC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000233242.1	1	1	hg19	CCDS1703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1	68	344	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	67	343	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21245781	21245781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21245781G>T	ENST00000233242.1	-	18	2865	c.2738C>A	c.(2737-2739)gCt>gAt	p.A913D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GGCAACATGAGCCTCCAGACC	0.498000																								0							SO:0001583	missense			ENST00000233242.1	1	1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780221	0.70222	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19669	2.13	5.51	3.72	0.42706	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.321319	0.26474	N	0.024168	T	0.40546	0.1121	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.22138	-1.0225	10	0.87932	D	0	.	7.7883	0.29106	0.1421:0.1333:0.7247:0.0	.	913	P04114	APOB_HUMAN	D	913	ENSP00000233242:A913D	ENSP00000233242:A913D	A	-	2	0	APOB	21099286	1.000000	0.71417	0.619000	0.29118	0.916000	0.54674	3.676000	0.54612	0.823000	0.34589	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	0	27	280	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	26	276	0	48	2								-9.690214	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.760000	1.000000	1.000000	0.973230	0.990000	1	9.300000e-01	1
ERBB4	2066	broad.mit.edu	37	2	212488760	212488760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212488760G>A	ENST00000342788.4	-	18	2399	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	GGAGTTAATGGTTCCACCAAC	0.458000										TSP Lung(8;0.080)														0							SO:0001583	missense			ENST00000342788.4	1	1	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027476	0.93518	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.76316	-0.99;-0.99;-1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.998	D;D;P;P	0.85130	0.911;0.997;0.863;0.861	D	0.88800	0.3284	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	687;687;697;697	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	697;697;687	ENSP00000342235:P697S;ENSP00000403204:P697S;ENSP00000385565:P687S	ENSP00000342235:P697S	P	-	1	0	ERBB4	212197005	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.837000	0.99465	2.805000	0.96524	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1	60	277	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	59	271	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB4	2066	broad.mit.edu	37	2	212495251	212495251	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212495251G>T	ENST00000342788.4	-	17	2325	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D|ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	AACATAAACAGCAAATGTCAG	0.403000										TSP Lung(8;0.080)														0							SO:0001583	missense			ENST00000342788.4	1	1	hg19	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.021134|5.021134	0.93462|0.93462	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.76186|.	-0.99;-1.0;-1.0|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76478|0.76478	0.3993|0.3993	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	1.0;0.996;0.529;1.0;1.0|.	D;P;B;D;D|.	0.77004|.	0.989;0.888;0.304;0.989;0.976|.	T|T	0.74642|0.74642	-0.3597|-0.3597	10|5	0.72032|.	D|.	0.01|.	.|.	19.6599|19.6599	0.95861|0.95861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	662;662;531;672;672|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	D|M	672;672;662|662	ENSP00000342235:A672D;ENSP00000403204:A672D;ENSP00000385565:A662D|.	ENSP00000342235:A672D|.	A|L	-|-	2|1	0|2	ERBB4|ERBB4	212203496|212203496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.471000|9.471000	0.97696|0.97696	2.657000|2.657000	0.90304|0.90304	0.585000|0.585000	0.79938|0.79938	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1	113	369	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	1	112	365	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APOB	338	broad.mit.edu	37	2	21250864	21250864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21250864G>A	ENST00000233242.1	-	14	2030	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	APOB_ENST00000399256.4_Missense_Mutation_p.R635W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	p.R635W(1)		305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TGATAGTTCCGAGAGAATTTT	0.368000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000233242.1	1	1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827089	0.71143	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.23950	1.88;1.88	5.85	4.0	0.46444	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);Vitellinogen, superhelical (2);	0.163734	0.38492	N	0.001671	T	0.52025	0.1709	M	0.81239	2.535	0.39492	D	0.96806	D	0.89917	1.0	D	0.67103	0.949	T	0.62172	-0.6910	10	0.87932	D	0	.	15.4125	0.74937	0.0:0.0:0.746:0.254	.	635	P04114	APOB_HUMAN	W	635	ENSP00000233242:R635W;ENSP00000382200:R635W	ENSP00000233242:R635W	R	-	1	2	APOB	21104369	0.987000	0.35691	1.000000	0.80357	0.706000	0.40770	2.281000	0.43452	0.892000	0.36259	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	1	134	641	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	134	629	0	108	2								-20.000000	1	1	121412	4	44	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB4	2066	broad.mit.edu	37	2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212615400G>A	ENST00000342788.4	-	5	896	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	CCCCAGCAACGGCCAGTACAG	0.453000										TSP Lung(8;0.080)														0							SO:0001583	missense			ENST00000342788.4	1	1	hg19	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206073	0.79127	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.30182	1.54;1.54;1.54	5.58	4.67	0.58626	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.056132	0.64402	D	0.000001	T	0.59729	0.2215	M	0.85945	2.785	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;0.959;1.0;1.0	D;D;P;D;D	0.91635	0.998;0.952;0.737;0.998;0.999	T	0.64093	-0.6488	10	0.51188	T	0.08	.	15.8781	0.79182	0.0:0.0:0.8639:0.136	.	196;196;55;196;196	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	C	196	ENSP00000342235:R196C;ENSP00000403204:R196C;ENSP00000385565:R196C	ENSP00000342235:R196C	R	-	1	0	ERBB4	212323645	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.332000	0.59279	2.625000	0.88918	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1	53	252	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	53	248	0	64	2								-2.942343	1	1	121412	1	28	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IKZF2	22807	broad.mit.edu	37	2	213872294	213872294	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213872294G>T	ENST00000434687.1	-	9	1680	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000374327.4_Silent_p.I312I|IKZF2_ENST00000421754.2_Silent_p.I383I|IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000457361.1_Silent_p.I457I			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)			23		Esophageal squamous(248;0.0559)|Renal(323;0.218)			AGACCTTGTAGATGTCCTTCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000434687.1	1	1	hg19	CCDS2395.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	0	0	1	231	672	0	162	0	2.722199e-01	0	4	0	162	2		0	0	0	0	0	2	1	1	226	663	0	162	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IKZF2	22807	broad.mit.edu	37	2	213878658	213878658	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213878658A>G	ENST00000434687.1	-	8	1022	c.713T>C	c.(712-714)gTa>gCa	p.V238A	IKZF2_ENST00000342002.2_Splice_Site_p.V244A|IKZF2_ENST00000374327.4_Splice_Site_p.V93A|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374319.4_Splice_Site_p.V212A|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Splice_Site_p.V166A|IKZF2_ENST00000457361.1_Splice_Site_p.V238A			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)			23		Esophageal squamous(248;0.0559)|Renal(323;0.218)			CATAGGAGGTACTATACAAAA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000434687.1	1	0	hg19	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585743	0.28268	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.13307	3.32;3.28;3.32;3.33;3.31;2.6	5.4	5.4	0.78164	.	0.169511	0.40818	N	0.001012	T	0.25005	0.0607	L	0.47716	1.5	0.80722	D	1	D;B;B;B;P	0.61697	0.99;0.0;0.001;0.002;0.877	D;B;B;B;P	0.73380	0.98;0.001;0.003;0.001;0.728	T	0.03852	-1.0998	10	0.02654	T	1	.	14.2769	0.66187	1.0:0.0:0.0:0.0	.	166;93;212;238;16	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	A	238;244;238;212;166;93	ENSP00000410447:V238A;ENSP00000342876:V244A;ENSP00000412869:V238A;ENSP00000363439:V212A;ENSP00000395203:V166A;ENSP00000363447:V93A	ENSP00000342876:V244A	V	-	2	0	IKZF2	213586903	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.779000	0.62375	2.171000	0.68590	0.459000	0.35465	GTA		TCGA-IB-7651-01A-11D-2154-08	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	0	0	1	60	325	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	1	56	323	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPAG16	79582	broad.mit.edu	37	2	214354799	214354799	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:214354799A>C	ENST00000331683.5	+	10	1150	c.1055A>C	c.(1054-1056)gAa>gCa	p.E352A	SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16			56		Renal(323;0.00461)			AGACTCCATGAACTTCCAGTG	0.323000																								0							SO:0001583	missense			ENST00000331683.5	1	1	hg19	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408981	0.25378	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.62941	-0.01;-0.01;-0.01	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.207947	0.37095	N	0.002242	T	0.66177	0.2763	M	0.72479	2.2	0.30218	N	0.797086	P;P;B;P	0.51449	0.945;0.631;0.137;0.856	P;B;B;P	0.48454	0.578;0.229;0.115;0.492	T	0.67122	-0.5750	10	0.22706	T	0.39	.	12.7704	0.57417	1.0:0.0:0.0:0.0	.	258;203;292;352	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	A	352;258;38	ENSP00000332592:E352A;ENSP00000363428:E258A;ENSP00000416600:E38A	ENSP00000332592:E352A	E	+	2	0	SPAG16	214063044	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.663000	0.61532	2.269000	0.75478	0.454000	0.30748	GAA		TCGA-IB-7651-01A-11D-2154-08	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	1	0	1	40	192	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	39	189	0	57	2								-19.996370	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BARD1	580	broad.mit.edu	37	2	215610503	215610503	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215610503G>T	ENST00000260947.4	-	8	1887	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1			35		Renal(323;0.0243)			AGCTCACTGAGCATTTTCTGT	0.403000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome															0							SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	ENST00000260947.4	1	1	hg19	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418594	0.62622	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	D;D;D	0.83075	-1.68;-1.68;-1.68	5.2	5.2	0.72013	BRCT (4);	0.000000	0.64402	D	0.000002	D	0.87597	0.6217	L	0.39397	1.21	0.47949	D	0.99955	D;P	0.61697	0.99;0.953	D;D	0.71870	0.975;0.958	D	0.86382	0.1730	10	0.38643	T	0.18	-5.8897	19.0931	0.93235	0.0:0.0:1.0:0.0	.	441;585	E7EUI3;Q99728	.;BARD1_HUMAN	I	585;441;134	ENSP00000260947:L585I;ENSP00000406752:L441I;ENSP00000392245:L134I	ENSP00000260947:L585I	L	-	1	0	BARD1	215318748	1.000000	0.71417	0.997000	0.53966	0.419000	0.31324	6.474000	0.73578	2.576000	0.86940	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	1	0	1	141	708	0	130	1	6.621725e-01	2	11	0	130	2		0	0	0	0	0	2	1	1	140	688	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BARD1	580	broad.mit.edu	37	2	215646005	215646005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215646005G>A	ENST00000260947.4	-	4	727	c.593C>T	c.(592-594)gCt>gTt	p.A198V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.A54V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1			35		Renal(323;0.0243)			TCTTGCAGAAGCCTTTTTAGC	0.388000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome															0							SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	ENST00000260947.4	1	1	hg19	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081057	0.08533	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72725	-0.68;-0.1	5.75	1.71	0.24356	.	0.813362	0.11148	N	0.594411	T	0.57051	0.2027	L	0.50333	1.59	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.13407	0.009;0.003	T	0.39210	-0.9625	10	0.12766	T	0.61	-3.1363	4.3336	0.11075	0.1329:0.2206:0.5298:0.1167	.	54;198	E7EUI3;Q99728	.;BARD1_HUMAN	V	198;54	ENSP00000260947:A198V;ENSP00000406752:A54V	ENSP00000260947:A198V	A	-	2	0	BARD1	215354250	0.289000	0.24334	0.020000	0.16555	0.033000	0.12548	1.470000	0.35354	0.878000	0.35920	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	1	0	1	60	361	0	69	1	6.148765e-01	3	11	0	69	2		0	0	0	0	0	2	1	1	57	343	0	68	2								-20.000000	1	1	121404	1	29	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA12	26154	broad.mit.edu	37	2	215815605	215815605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815605C>A	ENST00000272895.7	-	45	7069	c.6850G>T	c.(6850-6852)Gag>Tag	p.E2284*	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			TTTCTTACCTCTCCAGCAGGT	0.373000													Ovarian(66;664 1488 5121 34295)											0							SO:0001587	stop_gained			ENST00000272895.7	0	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	47	13.600953	0.99752	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.61	5.61	0.85477	.	0.082820	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	.	.	.	X	2284;1966	.	ENSP00000272895:E2284X	E	-	1	0	ABCA12	215523850	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.978000	0.76147	2.639000	0.89480	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	0	23	424	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	9.999992e-01	22	415	0	78	2								-3.221435	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.670000	0.430000	1.000000	0.640000	0.699800	0.670000	0	5.400000e-01	8.700000e-01
ABCA12	26154	broad.mit.edu	37	2	215815716	215815716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815716C>T	ENST00000272895.7	-	45	6958	c.6739G>A	c.(6739-6741)Ggt>Agt	p.G2247S	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			TCAGCTGCACCACTCTCAACT	0.378000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057706	0.76074	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89270	-2.49;-2.45	5.61	5.61	0.85477	.	0.374382	0.25768	N	0.028440	D	0.92795	0.7709	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	D	0.93225	0.6612	10	0.87932	D	0	.	19.6562	0.95842	0.0:1.0:0.0:0.0	.	2247;1929	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2247;1929	ENSP00000272895:G2247S;ENSP00000374312:G1929S	ENSP00000272895:G2247S	G	-	1	0	ABCA12	215523961	1.000000	0.71417	0.909000	0.35828	0.181000	0.23173	7.031000	0.76491	2.639000	0.89480	0.555000	0.69702	GGT		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1	133	742	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1	133	717	0	146	2								-3.017825	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA12	26154	broad.mit.edu	37	2	215820074	215820074	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215820074A>G	ENST00000272895.7	-	43	6464	c.6245T>C	c.(6244-6246)tTt>tCt	p.F2082S	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			CATCCAGGAAAATGTTGCATA	0.438000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718292	0.89205	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82803	-1.65;-1.65	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.90150	0.6922	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.974	D	0.90896	0.4765	10	0.66056	D	0.02	.	16.2002	0.82067	1.0:0.0:0.0:0.0	.	2082;1764	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	2082;1764	ENSP00000272895:F2082S;ENSP00000374312:F1764S	ENSP00000272895:F2082S	F	-	2	0	ABCA12	215528319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.285000	0.76669	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1	92	280	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	90	273	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA12	26154	broad.mit.edu	37	2	215838750	215838750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215838750C>A	ENST00000272895.7	-	36	5704	c.5485G>T	c.(5485-5487)Gac>Tac	p.D1829Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			TCCAGACTGTCTTTGTTTAAA	0.373000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113260	0.20795	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89123	-2.47;-2.46	5.51	-1.58	0.08479	.	1.268040	0.05120	N	0.490566	D	0.86188	0.5873	N	0.24115	0.695	0.09310	N	1	P;P	0.45240	0.854;0.744	P;P	0.49999	0.628;0.495	T	0.76833	-0.2813	10	0.66056	D	0.02	.	9.9501	0.41634	0.0:0.5154:0.0:0.4846	.	1829;1511	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1829;1511	ENSP00000272895:D1829Y;ENSP00000374312:D1511Y	ENSP00000272895:D1829Y	D	-	1	0	ABCA12	215546995	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.124000	0.15728	-0.409000	0.07553	0.557000	0.71058	GAC		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1	50	247	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	50	242	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA12	26154	broad.mit.edu	37	2	215845305	215845305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215845305C>T	ENST00000272895.7	-	31	4861	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			TCCAGGAAGGCGATGCGGTCA	0.512000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809464	0.96975	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.76060	-0.99;-0.99	5.95	5.95	0.96441	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000001	D	0.86698	0.5995	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86705	0.1932	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	1548;1230	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1548;1230	ENSP00000272895:A1548T;ENSP00000374312:A1230T	ENSP00000272895:A1548T	A	-	1	0	ABCA12	215553550	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	0	21	313	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	1	9.999974e-01	21	307	0	71	2								-6.363954	1	1	121412	1	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.820000	0.520000	1.000000	1.000000	0.822663	0.820000	0	6.500000e-01	1
ABCA12	26154	broad.mit.edu	37	2	215847042	215847042	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215847042A>G	ENST00000272895.7	-	30	4667	c.4448T>C	c.(4447-4449)aTg>aCg	p.M1483T	ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			CTTCCTCTTCATGCCTCCTGA	0.383000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151331	0.57151	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93811	-3.29;-3.29	5.65	5.65	0.86999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.066415	0.64402	D	0.000004	D	0.96125	0.8737	M	0.79123	2.44	0.80722	D	1	D;B	0.61697	0.99;0.2	P;B	0.61940	0.896;0.142	D	0.96337	0.9248	10	0.62326	D	0.03	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1483;1165	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1483;1165	ENSP00000272895:M1483T;ENSP00000374312:M1165T	ENSP00000272895:M1483T	M	-	2	0	ABCA12	215555287	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1	90	451	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	88	446	0	107	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA12	26154	broad.mit.edu	37	2	215862523	215862523	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215862523T>G	ENST00000272895.7	-	23	3409	c.3190A>C	c.(3190-3192)Agt>Cgt	p.S1064R	ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			TAAGAGACACTGGTTAGGAAG	0.363000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054625	0.75960	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87256	-2.23;-2.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.962	D	0.93109	0.6515	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1064;746	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	1064;746	ENSP00000272895:S1064R;ENSP00000374312:S746R	ENSP00000272895:S1064R	S	-	1	0	ABCA12	215570768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.596000	0.67570	2.371000	0.80710	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1	57	268	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	56	262	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA12	26154	broad.mit.edu	37	2	215876354	215876354	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215876354C>T	ENST00000272895.7	-	17	2360	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			TGTGTTCATTCGGTTGCTTCT	0.403000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421623	0.11928	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88354	-2.37;-2.37	5.28	3.43	0.39272	.	0.976699	0.08381	N	0.954575	T	0.78201	0.4246	N	0.19112	0.55	0.18873	N	0.999988	B;B	0.30741	0.293;0.085	B;B	0.26517	0.021;0.07	T	0.64071	-0.6493	10	0.11182	T	0.66	.	7.853	0.29466	0.0:0.7415:0.1669:0.0915	.	714;396	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	714;396	ENSP00000272895:R714Q;ENSP00000374312:R396Q	ENSP00000272895:R714Q	R	-	2	0	ABCA12	215584599	0.058000	0.20735	0.006000	0.13384	0.359000	0.29487	0.249000	0.18216	1.352000	0.45808	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1	112	581	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	112	565	0	112	2								-3.224223	1	1	121410	1	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA12	26154	broad.mit.edu	37	2	215928871	215928871	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215928871C>A	ENST00000272895.7	-	3	454	c.235G>T	c.(235-237)Gac>Tac	p.D79Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			CATTTAGAGTCTGTGTCACAG	0.433000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816495	0.70912	.	.	ENSG00000144452	ENST00000272895	D	0.98512	-4.97	5.65	4.77	0.60923	.	0.596143	0.16633	N	0.205982	D	0.98277	0.9429	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.98008	1.0364	10	0.66056	D	0.02	.	11.6926	0.51525	0.0:0.9166:0.0:0.0834	.	79	Q86UK0	ABCAC_HUMAN	Y	79	ENSP00000272895:D79Y	ENSP00000272895:D79Y	D	-	1	0	ABCA12	215637116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	1.372000	0.46190	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	1	0	1	87	486	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	86	476	0	103	2								-3.222613	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATIC	471	broad.mit.edu	37	2	216191624	216191624	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216191624T>C	ENST00000236959.9	+	7	937	c.611T>C	c.(610-612)aTg>aCg	p.M204T	ATIC_ENST00000540518.1_Missense_Mutation_p.M145T|ATIC_ENST00000435675.1_Missense_Mutation_p.M203T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		ATIC/ALK(24)	8		Renal(323;0.229)		Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GTATCTCAGATGCCCTTGAGA	0.473000			T	ALK	ALCL										Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0							SO:0001583	missense			ENST00000236959.9	0	1	hg19	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779289	0.49891	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.86	5.86	0.93980	Cytidine deaminase-like (1);	0.250429	0.47852	D	0.000213	T	0.73024	0.3534	L	0.37466	1.105	0.48395	D	0.999647	B;B	0.20671	0.027;0.047	B;B	0.37550	0.142;0.253	T	0.70371	-0.4890	10	0.51188	T	0.08	-9.2562	15.9283	0.79639	0.0:0.0:0.0:1.0	.	203;204	E9PBU3;P31939	.;PUR9_HUMAN	T	204;145;203;145	ENSP00000236959:M204T;ENSP00000440523:M145T;ENSP00000415935:M203T;ENSP00000402393:M145T	ENSP00000236959:M204T	M	+	2	0	ATIC	215899869	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	7.903000	0.87398	2.240000	0.73641	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	0	0	0	13	800	0	136	1	7.619820e-01	6	164	0	136	2		0	0	0	0	0	2	1	9.994873e-01	13	789	0	135	2								-3.021231	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.210000	0.110000	1.000000	0.200000	0.286131	0.210000	0	1.500000e-01	3.000000e-01
ATIC	471	broad.mit.edu	37	2	216211553	216211553	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216211553T>G	ENST00000236959.9	+	14	1718	c.1392T>G	c.(1390-1392)taT>taG	p.Y464*	ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*|ATIC_ENST00000435675.1_Nonsense_Mutation_p.Y463*	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		ATIC/ALK(24)	8		Renal(323;0.229)		Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	AGGCAAACTATTGGTGGCTTA	0.453000			T	ALK	ALCL										Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0							SO:0001587	stop_gained			ENST00000236959.9	0	1	hg19	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.53|16.53	3.149877|3.149877	0.57151|0.57151	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000446622;ENST00000426233|ENST00000236959;ENST00000540518;ENST00000435675	.|.	.|.	.|.	5.8|5.8	-2.44|-2.44	0.06502|0.06502	.|.	.|0.889155	.|0.09970	.|N	.|0.732367	T|.	0.56949|.	0.2020|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65713|.	-0.6101|.	3|.	.|0.46703	.|T	.|0.11	5.5651|5.5651	14.3989|14.3989	0.67029|0.67029	0.0:0.6062:0.0:0.3938|0.0:0.6062:0.0:0.3938	.|.	.|.	.|.	.|.	V|X	158;133|464;405;463	.|.	.|ENSP00000236959:Y464X	L|Y	+|+	1|3	2|2	ATIC|ATIC	215919798|215919798	0.001000|0.001000	0.12720|0.12720	0.010000|0.010000	0.14722|0.14722	0.864000|0.864000	0.49448|0.49448	-0.106000|-0.106000	0.10890|0.10890	-0.576000|-0.576000	0.05974|0.05974	-0.280000|-0.280000	0.10049|0.10049	TTG|TAT		TCGA-IB-7651-01A-11D-2154-08	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	1	0	1	182	439	0	98	1	1	16	197	0	98	2		0	0	0	0	0	2	1	1	181	435	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FN1	2335	broad.mit.edu	37	2	216240026	216240026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216240026C>T	ENST00000359671.1	-	37	6060	c.5795G>A	c.(5794-5796)gGc>gAc	p.G1932D	FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000354785.4_Missense_Mutation_p.G2023D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	GATGATGTAGCCGGTAATCCT	0.552000																								0							SO:0001583	missense			ENST00000359671.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	26.7	4.765785	0.90020	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.80265	0.4591	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82780	-0.0288	10	0.87932	D	0	.	19.7012	0.96054	0.0:1.0:0.0:0.0	.	1723;1932;1933;2023;1842;1842;1932;1932;1933;1842;1842;2023;1932	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	1842;2023;1932;1842;2023;1933;1932;1932;1932;1932;1932;1842;1933;1842;649;51	ENSP00000394423:G1842D;ENSP00000323534:G2023D;ENSP00000338200:G1932D;ENSP00000350534:G1842D;ENSP00000346839:G2023D;ENSP00000352696:G1932D;ENSP00000265312:G1932D;ENSP00000273049:G1932D;ENSP00000349509:G1932D;ENSP00000410422:G1932D;ENSP00000415018:G1842D;ENSP00000399538:G1933D;ENSP00000348285:G1842D;ENSP00000416139:G649D;ENSP00000392565:G51D	ENSP00000265313:G1933D	G	-	2	0	FN1	215948271	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	6.040000	0.70980	2.637000	0.89404	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	0	20	383	0	75	0	1	0	6355	0	75	2		0	0	0	0	0	2	1	9.999952e-01	20	380	0	75	2								-19.939560	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.650000	0.400000	1.000000	0.630000	0.681028	0.650000	0	5.100000e-01	8.600000e-01
FN1	2335	broad.mit.edu	37	2	216249593	216249593	+	Silent	SNP	G	G	A	rs147150819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216249593G>A	ENST00000359671.1	-	28	4711	c.4446C>T	c.(4444-4446)taC>taT	p.Y1482Y	FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000336916.4_Silent_p.Y1482Y|FN1_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000354785.4_Silent_p.Y1573Y|FN1_ENST00000443816.1_Silent_p.Y1482Y			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	CTGTCTCTCCGTAAGTGATCC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000359671.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		0	0	1	40	243	1	67	0	1	1	5646	1	67	186		0	0	0	0	0	2	1	9.998857e-01	38	241	1	67	15								-18.812600	1	1	121412	12	41	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
FN1	2335	broad.mit.edu	37	2	216251446	216251446	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216251446C>T	ENST00000359671.1	-	27	4570	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000356005.4_Silent_p.E1435E|FN1_ENST00000323926.6_Silent_p.E1526E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000354785.4_Silent_p.E1526E|FN1_ENST00000443816.1_Silent_p.E1435E			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	AGGGACTTTCCTCTCTGCCAT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000359671.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	0	16	245	0	53	0	1	0	6487	0	53	2		0	0	0	0	0	2	1	9.999192e-01	16	235	0	53	2								-3.018924	1	1	121412	3	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.810000	0.470000	1.000000	1.000000	0.807913	0.810000	0	6.200000e-01	1
FN1	2335	broad.mit.edu	37	2	216292951	216292951	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216292951C>A	ENST00000359671.1	-	6	1061	c.796G>T	c.(796-798)Gga>Tga	p.G266*	FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*|FN1_ENST00000354785.4_Nonsense_Mutation_p.G266*			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	TTCCACTCTCCTCGGCCGTTG	0.552000																								0							SO:0001587	stop_gained			ENST00000359671.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	41	9.094722	0.99064	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	266	.	ENSP00000265313:G266X	G	-	1	0	FN1	216001196	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	0	78	346	0	101	0	1	0	3769	0	101	2		0	0	0	0	0	2	1	1	78	337	0	99	2								-3.248734	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XRCC5	7520	broad.mit.edu	37	2	216977824	216977824	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216977824A>G	ENST00000392133.3	+	4	568	c.107A>G	c.(106-108)aAg>aGg	p.K36R	XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)			24		Renal(323;0.0328)			CAAGCAAAGAAGGTGATAACC	0.438000								Non-homologous end-joining																0							SO:0001583	missense			ENST00000392133.3	1	1	hg19	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486462	0.26686	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.29917	1.55;1.55	5.12	5.12	0.69794	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.69248	2.105	0.80722	D	1	B	0.27625	0.183	B	0.29353	0.101	T	0.12400	-1.0549	10	0.36615	T	0.2	.	14.249	0.66007	1.0:0.0:0.0:0.0	.	36	P13010	XRCC5_HUMAN	R	36;36;23	ENSP00000375978:K36R;ENSP00000375977:K36R	ENSP00000375977:K36R	K	+	2	0	XRCC5	216686069	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	6.704000	0.74639	2.150000	0.67090	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	0	0	1	73	372	0	81	1	1	186	730	0	81	2		0	0	0	0	0	2	1	1	73	360	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XRCC5	7520	broad.mit.edu	37	2	217002842	217002842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217002842G>A	ENST00000392133.3	+	14	1743	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)			24		Renal(323;0.0328)			GCCTTTCATGGAAGACTTGCG	0.363000								Non-homologous end-joining																0							SO:0001583	missense			ENST00000392133.3	1	1	hg19	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	36	5.668745	0.96754	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80696	-0.1267	10	0.72032	D	0.01	.	18.51	0.90913	0.0:0.0:1.0:0.0	.	428	P13010	XRCC5_HUMAN	K	428	ENSP00000375978:E428K;ENSP00000375977:E428K	ENSP00000375977:E428K	E	+	1	0	XRCC5	216711087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.333000	0.96459	2.606000	0.88127	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	1	0	1	51	285	0	58	1	1	196	741	0	58	2		0	0	0	0	0	2	1	1	51	280	0	56	2								-3.148436	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARCH4	57574	broad.mit.edu	37	2	217234861	217234861	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217234861G>T	ENST00000273067.4	-	1	1889	c.123C>A	c.(121-123)cgC>cgA	p.R41R		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase			20		Renal(323;0.0854)			GCATGCGGCAGCGGCACTTGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000273067.4	1	1	hg19	CCDS33376.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	1	0	1	23	79	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.999997e-01	23	77	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCAL1	50485	broad.mit.edu	37	2	217279897	217279897	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217279897C>T	ENST00000357276.4	+	3	800	c.470C>T	c.(469-471)aCa>aTa	p.T157I	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1			42		Renal(323;0.0458)			ATCAGGTTCACACCCTTTGCT	0.507000									Schimke Immuno-Osseous Dysplasia															0							SO:0001583	missense	Familial Cancer Database	SIOD	ENST00000357276.4	1	1	hg19	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144706	0.21288	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	T;T;T;D	0.87103	1.95;1.95;1.27;-2.21	4.69	1.94	0.25998	.	0.444855	0.22869	N	0.054653	T	0.74574	0.3734	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63825	-0.6549	10	0.52906	T	0.07	.	9.1742	0.37100	0.0:0.7637:0.0:0.2363	.	157	Q9NZC9	SMAL1_HUMAN	I	157;157;56;21	ENSP00000349823:T157I;ENSP00000350940:T157I;ENSP00000392997:T56I;ENSP00000375974:T21I	ENSP00000349823:T157I	T	+	2	0	SMARCAL1	216988142	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.432000	0.21461	0.234000	0.21139	-0.137000	0.14449	ACA		TCGA-IB-7651-01A-11D-2154-08	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	1	0	1	147	433	0	141	1	9.999999e-01	32	37	0	141	2		0	0	0	0	0	2	1	1	148	430	1	140	15								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCAL1	50485	broad.mit.edu	37	2	217285059	217285059	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285059G>A	ENST00000357276.4	+	5	1230	c.900G>A	c.(898-900)caG>caA	p.Q300Q	SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1			42		Renal(323;0.0458)			TCAACCTGCAGCCTCTGGAAT	0.547000									Schimke Immuno-Osseous Dysplasia															0							SO:0001819	synonymous_variant	Familial Cancer Database	SIOD	ENST00000357276.4	1	1	hg19	CCDS2403.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	1	0	1	16	194	0	30	1	9.801095e-01	9	72	0	30	2		0	0	0	0	0	2	1	9.999395e-01	16	192	0	30	2								-19.968190	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.590000	1.000000	1.000000	0.915378	0.990000	1	7.700000e-01	1
SMARCAL1	50485	broad.mit.edu	37	2	217285073	217285073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285073C>T	ENST00000357276.4	+	5	1244	c.914C>T	c.(913-915)gCc>gTc	p.A305V	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1			42		Renal(323;0.0458)			CTGGAATGGGCCTATGGCAGC	0.557000									Schimke Immuno-Osseous Dysplasia															0							SO:0001583	missense	Familial Cancer Database	SIOD	ENST00000357276.4	1	1	hg19	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275953	0.23307	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	D;D;T;D;T	0.85339	-1.97;-1.97;1.56;-1.97;0.72	4.64	2.32	0.28847	.	0.819538	0.11443	N	0.563539	T	0.74733	0.3755	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55860	-0.8074	10	0.15499	T	0.54	-5.0496	4.8631	0.13594	0.1799:0.6625:0.0:0.1575	.	305	Q9NZC9	SMAL1_HUMAN	V	305;305;204;169;25	ENSP00000349823:A305V;ENSP00000350940:A305V;ENSP00000392997:A204V;ENSP00000375974:A169V;ENSP00000390248:A25V	ENSP00000349823:A305V	A	+	2	0	SMARCAL1	216993318	0.000000	0.05858	0.006000	0.13384	0.235000	0.25334	-0.040000	0.12104	0.327000	0.23409	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	1	0	1	52	170	0	33	1	9.999989e-01	23	48	0	33	2		0	0	0	0	0	2	1	1	50	169	0	33	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCAL1	50485	broad.mit.edu	37	2	217315692	217315692	+	Missense_Mutation	SNP	C	C	T	rs148893764		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217315692C>T	ENST00000357276.4	+	12	2305	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1			42		Renal(323;0.0458)			TGCCAAGCAGCGCAAGATAGT	0.587000									Schimke Immuno-Osseous Dysplasia															0							SO:0001583	missense	Familial Cancer Database	SIOD	ENST00000357276.4	1	1	hg19	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126659	0.94429	2.27E-4	0.0	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.92858	-3.12;-3.12;-0.99	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97898	1.0301	10	0.87932	D	0	-5.1217	18.3269	0.90258	0.0:1.0:0.0:0.0	.	659	Q9NZC9	SMAL1_HUMAN	C	659;659;501	ENSP00000349823:R659C;ENSP00000350940:R659C;ENSP00000375974:R501C	ENSP00000349823:R659C	R	+	1	0	SMARCAL1	217023937	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.897000	0.69831	2.559000	0.86315	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	1	0	1	88	260	0	55	1	1	61	99	0	55	2		0	0	0	0	0	2	1	1	86	255	0	55	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCAL1	50485	broad.mit.edu	37	2	217341855	217341855	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217341855C>T	ENST00000357276.4	+	16	2781	c.2451C>T	c.(2449-2451)cgC>cgT	p.R817R	SMARCAL1_ENST00000358207.5_Silent_p.R817R|AC098820.3_ENST00000453157.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1			42		Renal(323;0.0458)			CTGAGGACCGCGTGCACCGCA	0.567000									Schimke Immuno-Osseous Dysplasia															0							SO:0001819	synonymous_variant	Familial Cancer Database	SIOD	ENST00000357276.4	0	1	hg19	CCDS2403.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2	0	0	1	6	26	0	11	1	9.999348e-01	30	96	0	11	2		0	0	0	0	0	2	1	9.669426e-01	6	25	0	11	2								-13.399720	1	1	121010	3	26	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.996242	0.990000	1	9.900000e-01	1
IGFBP2	3485	broad.mit.edu	37	2	217526595	217526595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217526595G>A	ENST00000233809.4	+	3	816	c.687G>A	c.(685-687)caG>caA	p.Q229Q	IGFBP2_ENST00000456764.1_Silent_p.Q85Q	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa			5		Renal(323;0.0458)			CCTGCCAACAGGAACTGGACC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000233809.4	1	0	hg19	CCDS42815.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733021	0.48939	.	.	ENSG00000115457	ENST00000436812	.	.	.	4.6	0.0849	0.14439	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64296	-0.6441	5	0.87932	D	0	-4.1961	9.88	0.41227	0.2733:0.0:0.7267:0.0	.	.	.	.	K	52	.	ENSP00000400308:R52K	R	+	2	0	IGFBP2	217234840	1.000000	0.71417	0.846000	0.33378	0.969000	0.65631	5.169000	0.64984	-0.102000	0.12197	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	0	0	1	42	163	0	54	1	1	54	1144	0	54	2		0	0	0	0	0	2	1	1	42	162	0	54	2								-3.615448	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGFBP5	3488	broad.mit.edu	37	2	217543756	217543756	+	Silent	SNP	G	G	A	rs146074282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217543756G>A	ENST00000233813.4	-	2	1133	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5			5		Renal(323;0.0822)			AGGTCTCCTCGGCCATCTCAG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000233813.4	1	1	hg19	CCDS2405.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	1	0	0	28	394	0	76	0	1	1	2040	0	76	2		0	0	0	0	0	2	1	1	28	388	0	75	2								-3.142677	1	1	121412	5	42	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.860000	0.580000	1.000000	1.000000	0.855831	0.860000	1	7.000000e-01	1
IGFBP5	3488	broad.mit.edu	37	2	217559274	217559274	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217559274G>T	ENST00000233813.4	-	1	974	c.225C>A	c.(223-225)gcC>gcA	p.A75A	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5			5		Renal(323;0.0822)			GCAGCCCCTGGGCGCAGCGCT	0.726000																								0							SO:0001819	synonymous_variant			ENST00000233813.4	0	1	hg19	CCDS2405.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	1	0	0	10	37	0	8	0	9.999748e-01	0	94	0	8	2		0	0	0	0	0	2	1	9.973920e-01	9	36	0	8	2								-19.999990	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999748	0.990000	1	9.900000e-01	1
TNS1	7145	broad.mit.edu	37	2	218713723	218713723	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218713723G>A	ENST00000171887.4	-	17	1594	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.A381V|TNS1_ENST00000430930.1_Missense_Mutation_p.A381V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1			79		Renal(207;0.0483)|Lung NSC(271;0.213)			GGCATTAACAGCCCCGGTGCT	0.602000																								0							SO:0001583	missense			ENST00000171887.4	1	1	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342895	0.24339	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554	D;D;D;D;D	0.95949	-2.97;-2.96;-2.97;-3.44;-3.86	5.17	2.34	0.29019	.	0.976044	0.08411	N	0.949829	D	0.93109	0.7806	L	0.54323	1.7	0.21652	N	0.999606	B;B;B;B;B	0.17667	0.002;0.006;0.023;0.003;0.003	B;B;B;B;B	0.18263	0.003;0.011;0.021;0.002;0.002	D	0.85020	0.0911	10	0.62326	D	0.03	.	8.059	0.30623	0.144:0.1316:0.7243:0.0	.	381;435;381;381;381	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	381;381;381;506;449	ENSP00000171887:A381V;ENSP00000408724:A381V;ENSP00000406016:A381V;ENSP00000405460:A506V;ENSP00000400383:A449V	ENSP00000171887:A381V	A	-	2	0	TNS1	218421968	0.942000	0.31987	0.110000	0.21437	0.824000	0.46624	3.924000	0.56476	0.318000	0.23185	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	1	0	1	199	986	0	210	1	1	5	201	0	210	2		0	0	0	0	0	2	1	1	195	963	0	202	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNS1	7145	broad.mit.edu	37	2	218749800	218749800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218749800C>T	ENST00000171887.4	-	14	1281	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	TNS1_ENST00000419504.1_Missense_Mutation_p.G277R|TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000430930.1_Missense_Mutation_p.G277R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1			79		Renal(207;0.0483)|Lung NSC(271;0.213)			AAGACAACCCCCAGGTCATGG	0.587000																								0							SO:0001583	missense			ENST00000171887.4	1	1	hg19	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.533073|1.533073	0.27387|0.27387	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.84146	.|-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.83|4.83	3.96|3.96	0.45880|0.45880	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|.	.|.	.|.	.|.	D|D	0.83238|0.83238	0.5211|0.5211	N|N	0.16130|0.16130	0.375|0.375	0.43977|0.43977	D|D	0.996663|0.996663	.|P;B;B;D;D;D	.|0.69078	.|0.9;0.036;0.02;0.994;0.991;0.997	.|P;B;B;D;D;D	.|0.69824	.|0.493;0.105;0.038;0.966;0.93;0.955	T|T	0.79356|0.79356	-0.1837|-0.1837	5|9	.|0.17369	.|T	.|0.5	.|.	13.0506|13.0506	0.58952|0.58952	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	.|277;331;308;277;277;277	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	E|R	52|277;277;277;402;345;308	.|ENSP00000171887:G277R;ENSP00000408724:G277R;ENSP00000406016:G277R;ENSP00000405460:G402R;ENSP00000400383:G345R;ENSP00000308321:G308R	.|ENSP00000171887:G277R	G|G	-|-	2|1	0|0	TNS1|TNS1	218458045|218458045	0.467000|0.467000	0.25831|0.25831	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	2.458000|2.458000	0.45014|0.45014	1.249000|1.249000	0.43950|0.43950	0.563000|0.563000	0.77884|0.77884	GGG|GGG		TCGA-IB-7651-01A-11D-2154-08	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	1	0	1	79	311	0	86	1	1	4	234	0	86	2		0	0	0	0	0	2	1	1	79	302	0	85	2								-3.287485	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNS1	7145	broad.mit.edu	37	2	218757686	218757686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218757686C>A	ENST00000171887.4	-	9	844	c.392G>T	c.(391-393)aGc>aTc	p.S131I	TNS1_ENST00000419504.1_Missense_Mutation_p.S131I|TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000430930.1_Missense_Mutation_p.S131I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1			79		Renal(207;0.0483)|Lung NSC(271;0.213)			AGAAATGTTGCTGTAGTGCAT	0.542000																								0							SO:0001583	missense			ENST00000171887.4	1	1	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179967	0.78564	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	4.5	4.5	0.54988	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	L	0.48642	1.525	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.994;0.902;1.0;0.998;0.998	D;D;P;D;D;P	0.85130	0.963;0.92;0.696;0.997;0.991;0.878	D	0.99816	1.1044	10	0.87932	D	0	.	17.3447	0.87307	0.0:1.0:0.0:0.0	.	131;185;162;131;131;131	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	I	131;131;131;256;199;162	ENSP00000171887:S131I;ENSP00000408724:S131I;ENSP00000406016:S131I;ENSP00000405460:S256I;ENSP00000400383:S199I;ENSP00000308321:S162I	ENSP00000171887:S131I	S	-	2	0	TNS1	218465931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.563000	0.60823	2.486000	0.83907	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	1	0	1	53	227	0	80	1	1	3	213	0	80	2		0	0	0	0	0	2	1	1	52	223	0	80	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CXCR2	3579	broad.mit.edu	37	2	219000157	219000157	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219000157A>G	ENST00000318507.2	+	3	1060	c.633A>G	c.(631-633)ttA>ttG	p.L211L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2			22					GGATGCTGTTACGGATCCTGC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000318507.2	1	1	hg19	CCDS2408.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	0	0	0	55	720	0	121	0	2.862612e-02	0	4	0	121	2		0	0	0	0	0	2	1	1	54	711	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.910000	0.690000	1.000000	1.000000	0.902122	0.910000	1	7.900000e-01	1
CXCR1	3577	broad.mit.edu	37	2	219029240	219029240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029240G>A	ENST00000295683.2	-	2	815	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1			13				Ketoprofen(DB01009)	CCCCATGTGGGCCTTAAACAG	0.562000																								0							SO:0001583	missense			ENST00000295683.2	1	1	hg19	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615895	0.46631	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.38560	1.13	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.108387	0.64402	D	0.000006	T	0.44871	0.1314	L	0.59436	1.845	0.24168	N	0.995634	P	0.38745	0.645	P	0.46419	0.516	T	0.44360	-0.9333	10	0.59425	D	0.04	.	6.8765	0.24149	0.0959:0.18:0.7241:0.0	.	232	P25024	CXCR1_HUMAN	V	232;176	ENSP00000295683:A232V	ENSP00000295683:A232V	A	-	2	0	CXCR1	218737485	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	6.300000	0.72776	2.210000	0.71456	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	1	0	1	174	604	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1	168	595	0	135	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARPC2	10109	broad.mit.edu	37	2	219099092	219099092	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219099092C>T	ENST00000295685.10	+	4	501	c.240C>T	c.(238-240)taC>taT	p.Y80Y	ARPC2_ENST00000315717.5_Silent_p.Y80Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa			6		Renal(207;0.0474)			AGAGGGTGTACGGGAGTTTCT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000295685.10	1	1	hg19	CCDS2410.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	1	0	0	126	412	0	99	1	1	410	1425	0	99	2		0	0	0	0	0	2	1	1	125	406	0	99	2								-20.000000	1	1	121412	1	23	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARPC2	10109	broad.mit.edu	37	2	219103454	219103454	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219103454A>C	ENST00000295685.10	+	5	597	c.336A>C	c.(334-336)caA>caC	p.Q112H	ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa			6		Renal(207;0.0474)			TTGTGCATCAAGCTGGCATGT	0.403000																								0							SO:0001583	missense			ENST00000295685.10	1	1	hg19	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437524	0.43224	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.45137	1.4	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35201	-0.9798	9	0.52906	T	0.07	.	8.7287	0.34485	0.3803:0.0:0.6197:0.0	.	112	O15144	ARPC2_HUMAN	H	112	.	ENSP00000295685:Q112H	Q	+	3	2	ARPC2	218811699	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.991000	0.49409	0.325000	0.23359	-0.376000	0.06991	CAA		TCGA-IB-7651-01A-11D-2154-08	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	1	0	1	239	692	0	165	1	1	573	1837	0	165	2		0	0	0	0	0	2	1	1	234	667	0	163	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VIL1	7429	broad.mit.edu	37	2	219295496	219295496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219295496C>T	ENST00000248444.5	+	10	1085	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1			41		Renal(207;0.0474)			GGTGGAGGTGCAGAATGATGG	0.577000																								0							SO:0001587	stop_gained			ENST00000248444.5	0	1	hg19	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401785	0.62288	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000440053	.	.	.	4.13	4.13	0.48395	.	0.173549	0.36303	N	0.002661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.7601	11.3415	0.49535	0.0:0.6425:0.3575:0.0	.	.	.	.	X	333;22;333	.	ENSP00000248444:Q333X	Q	+	1	0	VIL1	219003740	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.972000	0.49256	2.154000	0.67381	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	1	0	0	20	340	0	60	0	3.223636e-01	0	20	0	60	2		0	0	0	0	0	2	1	9.999936e-01	20	326	0	60	2								-19.994580	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.730000	0.450000	1.000000	1.000000	0.747926	0.730000	0	5.700000e-01	9.600000e-01
USP37	57695	broad.mit.edu	37	2	219374752	219374752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219374752C>T	ENST00000258399.3	-	11	1387	c.975G>A	c.(973-975)tgG>tgA	p.W325*	USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*|USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*|USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37			35		Renal(207;0.0915)			TTGGTTTATTCCAGCCAGTGT	0.423000																								0							SO:0001587	stop_gained			ENST00000258399.3	0	1	hg19	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	39	7.418739	0.98272	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6154	20.0951	0.97834	0.0:1.0:0.0:0.0	.	.	.	.	X	325;325;253;325	.	ENSP00000258399:W325X	W	-	3	0	USP37	219082996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.108000	0.64609	2.753000	0.94483	0.467000	0.42956	TGG		TCGA-IB-7651-01A-11D-2154-08	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	1	0	0	44	493	0	85	0	3.273668e-01	0	14	0	85	2		0	0	0	0	0	2	1	1	44	482	0	84	2								-2.920853	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.770000	1.000000	1.000000	0.966015	0.990000	1	9.000000e-01	1
PLCD4	84812	broad.mit.edu	37	2	219494329	219494329	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219494329G>A	ENST00000450993.2	+	8	1401	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000432688.1_Silent_p.L354L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4			23		Renal(207;0.0915)			GACACACCCTGACCTCCCGCA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000450993.2	1	1	hg19	CCDS46516.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1	1	0	0	14	167	0	33	0	0	0	1	0	33	2		0	0	0	0	0	2	1	9.997662e-01	14	164	0	33	2								-18.912620	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.580000	1.000000	1.000000	0.917593	0.990000	1	7.700000e-01	1
PLCD4	84812	broad.mit.edu	37	2	219497008	219497008	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219497008G>A	ENST00000450993.2	+	10	1761	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	PLCD4_ENST00000417849.1_Silent_p.Q474Q|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Silent_p.Q474Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4			23		Renal(207;0.0915)			CCCAGGAGCAGAACCTTCAGA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000450993.2	1	1	hg19	CCDS46516.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1	1	0	1	31	62	0	21	0	1.157895e-01	0	2	0	21	2		0	0	0	0	0	2	1	1	30	60	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCD4	84812	broad.mit.edu	37	2	219498467	219498467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219498467G>A	ENST00000450993.2	+	11	1928	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.R562H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4			23		Renal(207;0.0915)			AAGGCCAAGCGCCTCATCAAG	0.498000																								0							SO:0001583	missense			ENST00000450993.2	1	1	hg19	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730324	0.30684	0.0	2.43E-4	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.54279	0.58;0.58;0.58	5.53	1.16	0.20824	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.519476	0.23340	N	0.049252	T	0.46600	0.1401	M	0.62723	1.935	0.25396	N	0.988486	B	0.12013	0.005	B	0.04013	0.001	T	0.46679	-0.9174	10	0.87932	D	0	.	9.4467	0.38701	0.6826:0.0:0.3174:0.0	.	530	Q9BRC7	PLCD4_HUMAN	H	530;530;530;562	ENSP00000388631:R530H;ENSP00000396942:R530H;ENSP00000396185:R562H	ENSP00000251959:R530H	R	+	2	0	PLCD4	219206711	1.000000	0.71417	0.960000	0.40013	0.395000	0.30598	2.229000	0.42990	0.011000	0.14865	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1	1	0	1	57	128	0	34	1	9.998501e-01	13	21	0	34	2		0	0	0	0	0	2	1	1	57	125	0	34	2								-20.000000	1	1	120844	14	42	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF142	7701	broad.mit.edu	37	2	219506771	219506771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219506771C>T	ENST00000449707.1	-	8	4889	c.4468G>A	c.(4468-4470)Gct>Act	p.A1490T	ZNF142_ENST00000411696.2_Missense_Mutation_p.A1490T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142			38		Renal(207;0.0474)			GAGGGATCAGCACAGGCATAG	0.532000													Colon(170;867 1942 8995 15834 18053)											0							SO:0001583	missense			ENST00000449707.1	1	1	hg19	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048747	0.75846	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14516	2.5;2.5	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.148988	0.64402	D	0.000010	T	0.18759	0.0450	N	0.04669	-0.19	0.47009	D	0.999286	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.41520	-0.9504	10	0.22109	T	0.4	-17.3075	19.8797	0.96891	0.0:1.0:0.0:0.0	.	1490;1327	P52746;A8MWU9	ZN142_HUMAN;.	T	1490	ENSP00000408643:A1490T;ENSP00000398798:A1490T	ENSP00000398798:A1490T	A	-	1	0	ZNF142	219215015	0.981000	0.34729	1.000000	0.80357	0.924000	0.55760	2.299000	0.43611	2.933000	0.99390	0.645000	0.84053	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	1	0	1	101	310	0	65	1	9.999996e-01	24	44	0	65	2		0	0	0	0	0	2	1	1	98	308	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF142	7701	broad.mit.edu	37	2	219513829	219513829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219513829G>T	ENST00000449707.1	-	6	1223	c.802C>A	c.(802-804)Cta>Ata	p.L268I	ZNF142_ENST00000411696.2_Missense_Mutation_p.L268I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142			38		Renal(207;0.0474)			TGCTCCTTTAGGGCCTGGCTG	0.582000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Colon(170;867 1942 8995 15834 18053)											0							SO:0001583	missense			ENST00000449707.1	1	1	hg19	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160812	0.78226	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.21031	2.03;2.03	5.06	5.06	0.68205	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.83312	2.635	0.42258	D	0.992001	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.58120	-0.7692	10	0.87932	D	0	-26.1267	18.9909	0.92791	0.0:0.0:1.0:0.0	.	268;105	P52746;A8MWU9	ZN142_HUMAN;.	I	268	ENSP00000408643:L268I;ENSP00000398798:L268I	ENSP00000398798:L268I	L	-	1	2	ZNF142	219222073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.797000	0.62503	2.797000	0.96272	0.563000	0.77884	CTA		TCGA-IB-7651-01A-11D-2154-08	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	0	0	1	53	198	0	43	1	9.994284e-01	12	33	0	43	2		0	0	0	0	0	2	1	1	52	194	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCS1L	617	broad.mit.edu	37	2	219525923	219525923	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525923T>C	ENST00000431802.1	+	2	912	c.213T>C	c.(211-213)agT>agC	p.S71S	BCS1L_ENST00000439945.1_Silent_p.S71S|BCS1L_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000412366.1_Silent_p.S71S|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S|BCS1L_ENST00000392109.1_Silent_p.S71S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like			8		Renal(207;0.0474)			CCCGCCACAGTACCCGTACTC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000431802.1	1	1	hg19	CCDS2419.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	1	0	0	55	811	0	159	1	9.242483e-01	6	60	0	159	2		0	0	0	0	0	2	1	1	45	732	0	132	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.810000	0.610000	1.000000	1.000000	0.827794	0.810000	0	7.000000e-01	9.700000e-01
BCS1L	617	broad.mit.edu	37	2	219525943	219525943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525943G>A	ENST00000431802.1	+	2	932	c.233G>A	c.(232-234)aGt>aAt	p.S78N	BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N|BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like			8		Renal(207;0.0474)			CAGCACCTCAGTGTCGAGACT	0.532000																								0							SO:0001583	missense			ENST00000431802.1	1	1	hg19	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195845	0.94960	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.46	5.46	0.80206	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.85777	2.775	0.80722	D	1	P	0.50443	0.935	P	0.53760	0.734	D	0.97782	1.0233	10	0.51188	T	0.08	-25.7679	19.3096	0.94182	0.0:0.0:1.0:0.0	.	78	Q9Y276	BCS1_HUMAN	N	78	ENSP00000398957:S78N;ENSP00000395440:S78N;ENSP00000352219:S78N;ENSP00000375957:S78N;ENSP00000375958:S78N;ENSP00000397293:S78N;ENSP00000375959:S78N;ENSP00000406494:S78N;ENSP00000404999:S78N;ENSP00000413908:S78N	ENSP00000352219:S78N	S	+	2	0	BCS1L	219234187	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.845000	0.99498	2.542000	0.85734	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	1	0	1	54	849	0	173	1	9.592505e-01	10	73	0	173	2		0	0	0	0	0	2	1	1	47	792	0	158	2								-8.842186	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.760000	0.570000	1.000000	0.750000	0.786404	0.760000	0	6.600000e-01	9.100000e-01
BCS1L	617	broad.mit.edu	37	2	219526526	219526526	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219526526T>C	ENST00000431802.1	+	4	1204	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like			8		Renal(207;0.0474)			GACCGTGATGTACACAGCTGT	0.527000																								0							SO:0001583	missense			ENST00000431802.1	1	1	hg19	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189675	0.57909	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.33	2.96	0.34315	BCS1, N-terminal (1);	0.115428	0.64402	N	0.000009	D	0.97986	0.9337	M	0.86651	2.83	0.80722	D	1	B	0.26635	0.155	B	0.39935	0.314	D	0.96434	0.9321	10	0.51188	T	0.08	-19.5542	9.5157	0.39104	0.0:0.1425:0.0:0.8575	.	169	Q9Y276	BCS1_HUMAN	H	169;169;49;169;169;169;169;169;169;169	ENSP00000398957:Y169H;ENSP00000395440:Y169H;ENSP00000412729:Y49H;ENSP00000352219:Y169H;ENSP00000375957:Y169H;ENSP00000375958:Y169H;ENSP00000375959:Y169H;ENSP00000406494:Y169H;ENSP00000404999:Y169H;ENSP00000413908:Y169H	ENSP00000352219:Y169H	Y	+	1	0	BCS1L	219234770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.931000	0.63469	0.478000	0.27488	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	1	0	1	38	170	0	44	1	9.999990e-01	20	81	0	44	2		0	0	0	0	0	2	1	1	38	169	0	44	2								-19.998140	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCS1L	617	broad.mit.edu	37	2	219527252	219527252	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219527252C>T	ENST00000431802.1	+	6	1438	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000465706.1_Intron			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like			8		Renal(207;0.0474)			GGCTGGGGAACTGGAGCACAG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000431802.1	1	1	hg19	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833932	0.16820	.	.	ENSG00000074582	ENST00000426649	.	.	.	5.1	3.32	0.38043	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51949	-0.8640	4	.	.	.	-17.5927	7.9752	0.30151	0.0:0.691:0.0:0.309	.	.	.	.	I	28	.	.	T	+	2	0	BCS1L	219235496	0.998000	0.40836	0.995000	0.50966	0.973000	0.67179	0.985000	0.29578	0.753000	0.32945	-0.266000	0.10368	ACT		TCGA-IB-7651-01A-11D-2154-08	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	1	0	1	55	387	0	80	1	9.999873e-01	39	78	0	80	2		0	0	0	0	0	2	1	1	54	380	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
RNF25	64320	broad.mit.edu	37	2	219528785	219528785	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219528785G>T	ENST00000295704.2	-	10	1715	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25			24		Renal(207;0.0474)			CGGGTGTCCGGCCTTTAGAGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000295704.2	1	1	hg19	CCDS2420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	1	0	1	303	732	0	132	1	1	21	70	0	132	2		0	0	0	0	0	2	1	1	299	716	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTLL4	9654	broad.mit.edu	37	2	219602420	219602420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602420G>A	ENST00000392102.1	+	3	361	c.21G>A	c.(19-21)caG>caA	p.Q7Q	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.Q7Q|TTLL4_ENST00000258398.4_Silent_p.Q7Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4			39		Renal(207;0.0915)			CAGGAACACAGCACTATAGTA	0.587000													GBM(172;1818 2053 15407 20943 49753)											0							SO:0001819	synonymous_variant			ENST00000392102.1	1	1	hg19	CCDS2422.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	1	0	1	45	292	0	76	1	8.296654e-01	4	19	0	76	2		0	0	0	0	0	2	1	1	44	287	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
TTLL4	9654	broad.mit.edu	37	2	219602698	219602698	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602698G>A	ENST00000392102.1	+	3	639	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4			39		Renal(207;0.0915)			GCAGGCCACAGCAGTTCCTGT	0.562000													GBM(172;1818 2053 15407 20943 49753)											0							SO:0001583	missense			ENST00000392102.1	1	1	hg19	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.072001	0.20147	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.72	4.72	0.59763	.	0.309004	0.28515	N	0.015069	T	0.16727	0.0402	N	0.24115	0.695	0.23720	N	0.99703	B;B	0.23058	0.079;0.079	B;B	0.20955	0.032;0.021	T	0.11203	-1.0597	10	0.56958	D	0.05	.	8.7699	0.34726	0.1007:0.0:0.8993:0.0	.	100;100	E7EX20;Q14679	.;TTLL4_HUMAN	N	100	ENSP00000411228:S100N;ENSP00000375951:S100N;ENSP00000391342:S100N;ENSP00000396555:S100N;ENSP00000405485:S100N;ENSP00000258398:S100N	ENSP00000258398:S100N	S	+	2	0	TTLL4	219310942	0.006000	0.16342	0.911000	0.35937	0.494000	0.33585	1.061000	0.30542	2.441000	0.82636	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	1	0	1	178	493	0	124	1	9.989568e-01	16	15	0	124	2		0	0	0	0	0	2	1	1	176	480	0	122	2								-7.927045	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKAG3	53632	broad.mit.edu	37	2	219691782	219691782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219691782C>T	ENST00000529249.1	-	10	1352	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H|PRKAG3_ENST00000439262.2_Missense_Mutation_p.R321H|PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit			20		Renal(207;0.0474)		Acetylsalicylic acid(DB00945)	TTGGATAGTGCGGTAGAGGAA	0.597000																								0							SO:0001583	missense			ENST00000529249.1	1	1	hg19	CCDS2424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.689197|3.689197	0.68271|0.68271	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000392098|ENST00000439262;ENST00000545803;ENST00000529249	T|D;D;D	0.62232|0.91407	0.04|-2.84;-2.84;-2.84	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.102960	.|0.64402	.|D	.|0.000005	D|D	0.91153|0.91153	0.7214|0.7214	L|L	0.36672|0.36672	1.1|1.1	0.23798|0.23798	N|N	0.996819|0.996819	.|D	.|0.89917	.|1.0	.|D	.|0.67382	.|0.951	D|D	0.84430|0.84430	0.0576|0.0576	7|10	0.87932|0.66056	D|D	0|0.02	-12.6988|-12.6988	8.475|8.475	0.33007|0.33007	0.0:0.8359:0.0:0.1641|0.0:0.8359:0.0:0.1641	.|.	.|346	.|Q9UGI9	.|AAKG3_HUMAN	T|H	331|321;162;346	ENSP00000375947:A331T|ENSP00000397133:R321H;ENSP00000444536:R162H;ENSP00000436068:R346H	ENSP00000375947:A331T|ENSP00000233944:R346H	A|R	-|-	1|2	0|0	PRKAG3|PRKAG3	219400026|219400026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.096000|2.096000	0.41738|0.41738	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1	0	0	0	28	968	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	27	941	0	143	2								-2.246333	0	1	121412	7	43	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.360000	0.240000	1.000000	0.350000	0.422783	0.360000	0	2.900000e-01	4.700000e-01
PRKAG3	53632	broad.mit.edu	37	2	219692564	219692564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219692564G>A	ENST00000529249.1	-	7	1127	c.812C>T	c.(811-813)aCc>aTc	p.T271I	PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I|PRKAG3_ENST00000439262.2_Missense_Mutation_p.T246I|PRKAG3_ENST00000392098.3_Intron			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit			20		Renal(207;0.0474)		Acetylsalicylic acid(DB00945)	ACCCCTCCAGGTCTCAATCTT	0.552000																								0							SO:0001583	missense			ENST00000529249.1	1	1	hg19	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187793	0.78789	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.91945	-2.94;-2.94;-2.94	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97857	1.0278	10	0.72032	D	0.01	-24.4549	16.1833	0.81925	0.0:0.0:1.0:0.0	.	271	Q9UGI9	AAKG3_HUMAN	I	246;87;271	ENSP00000397133:T246I;ENSP00000444536:T87I;ENSP00000436068:T271I	ENSP00000233944:T271I	T	-	2	0	PRKAG3	219400808	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.234000	0.95347	2.283000	0.76528	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1	1	0	1	30	207	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	29	200	0	46	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999703	0.990000	1	9.900000e-01	1
WNT6	7475	broad.mit.edu	37	2	219738522	219738522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219738522G>A	ENST00000233948.3	+	4	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6			4		Renal(207;0.0474)			GCGTAGTACAGTGCCACCGCT	0.697000																								0							SO:0001819	synonymous_variant			ENST00000233948.3	1	1	hg19	CCDS2425.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	1	0	0	16	69	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999553e-01	16	67	0	21	2								-20.000000	1	1	119048	1	25	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999955	0.990000	1	9.900000e-01	1
WNT10A	80326	broad.mit.edu	37	2	219757865	219757865	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219757865T>C	ENST00000258411.3	+	4	1759	c.1126T>C	c.(1126-1128)Tgc>Cgc	p.C376R		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A			12		Renal(207;0.0474)			CGGCAGCATGTGCTGCGGCCG	0.701000																								0							SO:0001583	missense			ENST00000258411.3	0	1	hg19	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577249	0.45902	.	.	ENSG00000135925	ENST00000258411	D	0.91686	-2.89	4.87	4.87	0.63330	.	0.111087	0.64402	D	0.000002	D	0.97626	0.9222	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98813	1.0744	10	0.87932	D	0	.	13.8041	0.63220	0.0:0.0:0.0:1.0	.	376	Q9GZT5	WN10A_HUMAN	R	376	ENSP00000258411:C376R	ENSP00000258411:C376R	C	+	1	0	WNT10A	219466109	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.907000	0.69908	2.046000	0.60703	0.459000	0.35465	TGC		TCGA-IB-7651-01A-11D-2154-08	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	0	0	0	14	128	0	19	0	1.632301e-01	1	6	0	19	2		0	0	0	0	0	2	1	9.997954e-01	14	127	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.740000	1.000000	1.000000	0.977643	0.990000	1	9.800000e-01	1
CCDC108	255101	broad.mit.edu	37	2	219870946	219870946	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219870946C>A	ENST00000341552.5	-	31	4803		c.e31-1		CCDC108_ENST00000441968.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Splice_Site	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108			80		Renal(207;0.0915)			GAGGCAGTGTCTTTGGGAAGG	0.602000																								0							SO:0001630	splice_region_variant			ENST00000341552.5	1	1	hg19	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255038	0.39896	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.862	0.79032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC108	219579190	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.724000	0.61972	2.466000	0.83321	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	1	0	1	69	357	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	67	350	0	86	2								-3.232877	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC108	255101	broad.mit.edu	37	2	219874743	219874743	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219874743C>T	ENST00000341552.5	-	27	4456	c.4373G>A	c.(4372-4374)cGc>cAc	p.R1458H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108			80		Renal(207;0.0915)			GAAGAGCAGGCGGCTGCACTT	0.522000																								0							SO:0001583	missense			ENST00000341552.5	1	1	hg19	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	33	5.231706	0.95207	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.11169	2.8;2.8;2.8	5.8	5.8	0.92144	.	0.000000	0.46442	D	0.000293	T	0.21962	0.0529	M	0.72894	2.215	0.80722	D	1	P	0.49961	0.93	P	0.45343	0.477	T	0.00611	-1.1645	10	0.87932	D	0	-29.3898	19.6518	0.95819	0.0:1.0:0.0:0.0	.	1458	Q6ZU64	CC108_HUMAN	H	1458	ENSP00000340776:R1458H;ENSP00000413377:R1458H;ENSP00000409117:R1458H	ENSP00000340776:R1458H	R	-	2	0	CCDC108	219582987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.827000	0.62723	2.752000	0.94435	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	1	0	1	40	178	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	1	39	174	0	43	2								-3.852412	1	1	121310	43	45	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC108	255101	broad.mit.edu	37	2	219884315	219884315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219884315C>T	ENST00000341552.5	-	20	3469	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108			80		Renal(207;0.0915)			AGAGAAGAGGCGCCACAGGTG	0.612000																								0							SO:0001583	missense			ENST00000341552.5	1	1	hg19	CCDS2430.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.035950|2.035950	0.35893|0.35893	.|.	.|.	ENSG00000181378|ENSG00000181378	ENST00000413871|ENST00000341552;ENST00000441968;ENST00000453220	.|T;T;T	.|0.05139	.|3.49;3.49;3.49	5.04|5.04	-1.92|-1.92	0.07618|0.07618	.|.	.|0.958231	.|0.08607	.|N	.|0.920538	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.14661|0.14661	0.345|0.345	0.37377|0.37377	D|D	0.911878|0.911878	.|B	.|0.26147	.|0.143	.|B	.|0.19391	.|0.025	T|T	0.35919|0.35919	-0.9769|-0.9769	5|10	.|0.39692	.|T	.|0.17	-5.0064|-5.0064	11.4139|11.4139	0.49941|0.49941	0.0:0.4375:0.0:0.5625|0.0:0.4375:0.0:0.5625	.|.	.|1129	.|Q6ZU64	.|CC108_HUMAN	T|H	38|1129	.|ENSP00000340776:R1129H;ENSP00000413377:R1129H;ENSP00000409117:R1129H	.|ENSP00000340776:R1129H	A|R	-|-	1|2	0|0	CCDC108|CCDC108	219592559|219592559	0.005000|0.005000	0.15991|0.15991	0.960000|0.960000	0.40013|0.40013	0.982000|0.982000	0.71751|0.71751	-0.237000|-0.237000	0.08990|0.08990	-0.636000|-0.636000	0.05524|0.05524	0.561000|0.561000	0.74099|0.74099	GCC|CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	1	0	1	55	161	0	41	0	0	1	0	0	41	2		0	0	0	0	0	2	1	1	53	160	0	41	2								-4.968029	1	1	121412	2	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC108	255101	broad.mit.edu	37	2	219894360	219894360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219894360A>G	ENST00000341552.5	-	11	1498	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CCDC108_ENST00000441968.1_Missense_Mutation_p.V472A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108			80		Renal(207;0.0915)			GCTGAAGTTGACACAGTAGTG	0.572000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000341552.5	1	1	hg19	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412452	0.42817	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.09817	3.23;3.23;3.23;2.94;2.95	5.18	5.18	0.71444	.	0.348102	0.20722	N	0.086883	T	0.26376	0.0644	M	0.74881	2.28	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.53035	0.716;0.716	T	0.01757	-1.1280	10	0.66056	D	0.02	-18.9174	15.1942	0.73071	1.0:0.0:0.0:0.0	.	461;472	E9PG25;Q6ZU64	.;CC108_HUMAN	A	472;472;472;461;407;406	ENSP00000340776:V472A;ENSP00000413377:V472A;ENSP00000409117:V472A;ENSP00000386945:V461A;ENSP00000386258:V407A	ENSP00000340776:V472A	V	-	2	0	CCDC108	219602604	0.884000	0.30299	0.296000	0.24974	0.007000	0.05969	6.267000	0.72546	2.172000	0.68678	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	0	0	0	13	512	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	9.994168e-01	12	494	0	101	2								-11.322520	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.330000	0.170000	1.000000	0.320000	0.393217	0.330000	0	2.400000e-01	4.700000e-01
SLC23A3	151295	broad.mit.edu	37	2	220033556	220033556	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220033556C>A	ENST00000409878.3	-	5	525		c.e5-1		SLC23A3_ENST00000455516.2_Splice_Site|SLC23A3_ENST00000295738.7_Splice_Site|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3			11		Renal(207;0.0474)			CCCCGGACACCTGGTAGAAGA	0.577000																								0							SO:0001630	splice_region_variant			ENST00000409878.3	1	1	hg19	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589338	0.46214	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	.	.	.	4.85	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6874	0.56956	0.0:0.9197:0.0:0.0803	.	.	.	.	.	-1	.	.	.	-	.	.	SLC23A3	219741800	1.000000	0.71417	0.994000	0.49952	0.779000	0.44077	3.472000	0.53114	1.277000	0.44412	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	0	0	0	6	159	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.631323e-01	6	155	0	32	2								-8.530726	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.510000	0.210000	1.000000	0.460000	0.560664	0.510000	0	3.300000e-01	8.100000e-01
ABCB6	10058	broad.mit.edu	37	2	220075733	220075733	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220075733A>G	ENST00000265316.3	-	15	2382	c.2066T>C	c.(2065-2067)gTc>gCc	p.V689A	ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)			34		Renal(207;0.0474)			CCCAGCTGTGACACGGCCGTA	0.542000																								0							SO:0001583	missense			ENST00000265316.3	1	1	hg19	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.14|14.14	2.447439|2.447439	0.43429|0.43429	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.90261	.|-2.64;-2.64	4.7|4.7	3.54|3.54	0.40534|0.40534	.|ATPase, AAA+ type, core (1);ABC transporter-like (2);	.|0.266329	.|0.37530	.|N	.|0.002060	T|T	0.78220|0.78220	0.4249|0.4249	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.18263	.|0.007;0.021	T|T	0.67818|0.67818	-0.5572|-0.5572	5|10	.|0.15066	.|T	.|0.55	-7.5861|-7.5861	10.1721|10.1721	0.42915|0.42915	0.92:0.0:0.08:0.0|0.92:0.0:0.08:0.0	.|.	.|643;689	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	P|A	537|689;643	.|ENSP00000265316:V689A;ENSP00000394333:V643A	.|ENSP00000265316:V689A	S|V	-|-	1|2	0|0	ABCB6|ABCB6	219783977|219783977	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.876000|0.876000	0.50452|0.50452	4.887000|4.887000	0.63156|0.63156	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	TCA|GTC		TCGA-IB-7651-01A-11D-2154-08	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	1	0	1	54	332	0	55	1	9.999585e-01	30	63	0	55	2		0	0	0	0	0	2	1	1	53	323	0	54	2								-19.999920	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ABCB6	10058	broad.mit.edu	37	2	220077786	220077786	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220077786G>A	ENST00000265316.3	-	13	2123	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	ABCB6_ENST00000439002.2_Splice_Site_p.R557W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)			34		Renal(207;0.0474)			AGAGTCTCCCGCCTGCAAGGA	0.602000																								0							SO:0001630	splice_region_variant			ENST00000265316.3	1	0	hg19	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165506	0.38217	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.90844	-2.74;-2.74	4.69	2.81	0.32909	ABC transporter-like (1);	0.261056	0.36893	N	0.002359	D	0.91287	0.7253	M	0.81614	2.55	0.80722	D	1	D;D	0.61697	0.989;0.99	P;B	0.47015	0.534;0.43	D	0.90771	0.4672	10	0.87932	D	0	-15.4509	12.1891	0.54257	0.0:0.0:0.3671:0.6329	.	557;603	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	W	603;557	ENSP00000265316:R603W;ENSP00000394333:R557W	ENSP00000265316:R603W	R	-	1	2	ABCB6	219786030	0.974000	0.33945	0.906000	0.35671	0.279000	0.26890	3.221000	0.51215	0.528000	0.28580	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	1	0	1	14	105	0	29	1	9.812746e-01	9	44	0	29	2		0	0	0	0	0	2	1	9.997928e-01	14	103	0	28	2								-8.478268	1	1	121408	4	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.880000	1.000000	1.000000	0.993464	0.990000	1	9.900000e-01	1
ATG9A	79065	broad.mit.edu	37	2	220088899	220088899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220088899G>A	ENST00000409618.1	-	8	1633	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000396761.2_Silent_p.D398D|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Silent_p.D337D|ATG9A_ENST00000361242.4_Silent_p.D398D			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A			13		Renal(207;0.0474)			ACACATCTTCGTCATAAATGG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000409618.1	1	1	hg19	CCDS42820.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	1	0	0	241	1066	0	285	1	1	24	129	0	285	2		0	0	0	0	0	2	1	1	238	1047	0	283	2								-20.000000	1	1	121108	4	41	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKZF1	55139	broad.mit.edu	37	2	220100035	220100035	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100035G>A	ENST00000323348.5	+	10	1865		c.e10+1		ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1			23		Renal(207;0.0474)			CCACTGTGCAGTGAGTAAAGG	0.522000																								0							SO:0001630	splice_region_variant			ENST00000323348.5	0	1	hg19	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424284	0.43020	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.245	0.65983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKZF1	219808279	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	5.630000	0.67805	2.746000	0.94184	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	0	0	0	10	568	0	129	1	1.270855e-02	2	7	0	129	2		0	0	0	0	0	2	1	9.968125e-01	10	564	0	129	2								-7.919783	1	1	120854	1	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.230000	0.110000	1.000000	0.220000	0.306288	0.230000	0	1.600000e-01	3.500000e-01
ANKZF1	55139	broad.mit.edu	37	2	220100257	220100257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100257C>T	ENST00000323348.5	+	11	1927	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*|ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1			23		Renal(207;0.0474)			TAATGAGTTCCGAAGGTTCAT	0.488000																								0							SO:0001587	stop_gained			ENST00000323348.5	0	1	hg19	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	40	8.291588	0.98745	0.0	1.21E-4	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4972	19.5125	0.95148	0.0:1.0:0.0:0.0	.	.	.	.	X	585;375;585	.	ENSP00000321617:R585X	R	+	1	2	ANKZF1	219808501	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.100000	0.64560	2.840000	0.97914	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	1	0	1	90	359	0	88	1	9.999998e-01	4	87	0	88	2		0	0	0	0	0	2	1	1	90	347	0	88	2								-2.634284	1	1	120884	1	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLB1L	79411	broad.mit.edu	37	2	220102328	220102328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220102328G>T	ENST00000295759.7	-	16	1908	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H|GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like			22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)			AGGAGCTTGAGGATATGGCCA	0.458000																								0							SO:0001583	missense			ENST00000295759.7	1	1	hg19	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136592	0.09032	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.09	1.17	0.20885	Galactose-binding domain-like (1);	0.645122	0.15254	N	0.272188	D	0.89146	0.6632	L	0.38175	1.15	0.09310	N	1	B;P	0.50943	0.001;0.94	B;P	0.50192	0.003;0.634	T	0.80580	-0.1319	10	0.44086	T	0.13	-0.3405	1.9772	0.03418	0.2197:0.1138:0.4649:0.2016	.	442;532	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	H	532;442;532;442	ENSP00000295759:P532H;ENSP00000386354:P442H;ENSP00000375939:P532H;ENSP00000348628:P442H	ENSP00000295759:P532H	P	-	2	0	GLB1L	219810572	0.070000	0.21116	0.018000	0.16275	0.438000	0.31896	0.519000	0.22862	0.735000	0.32537	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	1	0	1	124	404	0	90	1	9.999182e-01	10	37	0	90	2		0	0	0	0	0	2	1	1	120	396	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLB1L	79411	broad.mit.edu	37	2	220107551	220107551	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220107551G>T	ENST00000295759.7	-	4	642	c.329C>A	c.(328-330)gCt>gAt	p.A110D	GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D|STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000409638.3_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D|GLB1L_ENST00000497855.1_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like			22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)			GTTCGCTAGAGCTGCCTCATT	0.507000																								0							SO:0001583	missense			ENST00000295759.7	1	1	hg19	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.28|10.28	1.307833|1.307833	0.23821|0.23821	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427|ENST00000440853	D;D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68;-4.68|.	6.17|6.17	5.28|5.28	0.74379|0.74379	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.431035|.	0.27048|.	N|.	0.021181|.	T|T	0.45094|0.45094	0.1325|0.1325	L|L	0.45285|0.45285	1.41|1.41	0.09310|0.09310	N|N	1|1	B;B|.	0.31548|.	0.328;0.004|.	B;B|.	0.27380|.	0.079;0.009|.	T|T	0.34850|0.34850	-0.9812|-0.9812	10|5	0.30854|.	T|.	0.27|.	0.3606|0.3606	14.0998|14.0998	0.65046|0.65046	0.0:0.0:0.6995:0.3005|0.0:0.0:0.6995:0.3005	.|.	110;110|.	Q6UWU2-2;Q6UWU2|.	.;GLB1L_HUMAN|.	D|I	110|43	ENSP00000295759:A110D;ENSP00000386354:A110D;ENSP00000375939:A110D;ENSP00000348628:A110D;ENSP00000400738:A110D|.	ENSP00000295759:A110D|.	A|L	-|-	2|1	0|0	GLB1L|GLB1L	219815795|219815795	0.338000|0.338000	0.24775|0.24775	0.057000|0.057000	0.19452|0.19452	0.869000|0.869000	0.49853|0.49853	3.374000|3.374000	0.52402|0.52402	1.564000|1.564000	0.49628|0.49628	0.655000|0.655000	0.94253|0.94253	GCT|CTC		TCGA-IB-7651-01A-11D-2154-08	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	1	0	1	140	417	0	109	1	9.998548e-01	8	33	0	109	2		0	0	0	0	0	2	1	1	139	414	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBA4A	7277	broad.mit.edu	37	2	220115518	220115518	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220115518C>T	ENST00000248437.4	-	4	1076	c.903G>A	c.(901-903)caG>caA	p.Q301Q	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q286Q|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a			20		Renal(207;0.0474)		Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ACTTTACCATCTGGTTGGCAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000248437.4	1	1	hg19	CCDS2438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	0	0	1	210	544	0	154	1	1	386	393	0	154	2		0	0	0	0	0	2	1	1	203	537	0	151	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBA4A	7277	broad.mit.edu	37	2	220116407	220116407	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220116407C>T	ENST00000248437.4	-	3	428	c.255G>A	c.(253-255)caG>caA	p.Q85Q	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.Q70Q|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a			20		Renal(207;0.0474)		Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GGTGGAAGAGCTGTCGGTATG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000248437.4	1	1	hg19	CCDS2438.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	1	0	1	55	265	0	50	1	1	261	426	0	50	2		0	0	0	0	0	2	1	1	55	257	0	50	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRN	5798	broad.mit.edu	37	2	220162015	220162015	+	Silent	SNP	C	C	T	rs17847406	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162015C>T	ENST00000295718.2	-	14	2268	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.P586P|PTPRN_ENST00000409251.3_Silent_p.P647P	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N			65		Renal(207;0.0474)			CGCACCAGGACGGGGTGCTGC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000295718.2	1	0	hg19	CCDS2440.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	1	73	391	0	84	0	9.999945e-01	0	95	0	84	2		0	0	0	0	0	2	1	1	71	384	0	84	2								-2.375370	0	1	121410	10328	72	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRN	5798	broad.mit.edu	37	2	220162648	220162648	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162648C>T	ENST00000295718.2	-	13	2086	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R|PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N			65		Renal(207;0.0474)			CCCTCAGGCCCCAGGGCTGCC	0.647000																								0							SO:0001583	missense			ENST00000295718.2	1	1	hg19	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819837	0.71028	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05382	3.73;3.46;3.45	4.76	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.23370	0.0565	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.961	T	0.00975	-1.1494	10	0.87932	D	0	.	12.4672	0.55766	0.0:0.9188:0.0:0.0812	.	587;616	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	587;616;587;526	ENSP00000386638:G587R;ENSP00000295718:G616R;ENSP00000444244:G526R	ENSP00000295718:G616R	G	-	1	0	PTPRN	219870892	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.002000	0.63952	1.229000	0.43630	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	0	32	113	0	19	0	9.999971e-01	0	77	0	19	2		0	0	0	0	0	2	1	1	31	112	0	19	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRN	5798	broad.mit.edu	37	2	220162710	220162710	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162710G>T	ENST00000295718.2	-	13	2024	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N			65		Renal(207;0.0474)			CAGAGCCACAGCCAGAGCCAC	0.657000																								0							SO:0001583	missense			ENST00000295718.2	1	1	hg19	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781120	0.70222	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.04015	3.85;3.73;3.73	4.76	4.76	0.60689	.	0.138904	0.49916	D	0.000134	T	0.11110	0.0271	L	0.40543	1.245	0.49130	D	0.999755	D;P	0.67145	0.996;0.885	P;B	0.59115	0.852;0.446	T	0.00926	-1.1512	10	0.66056	D	0.02	.	12.0899	0.53719	0.0836:0.0:0.9164:0.0	.	566;595	Q6NSL1;Q16849	.;PTPRN_HUMAN	D	566;595;566;505	ENSP00000386638:A566D;ENSP00000295718:A595D;ENSP00000444244:A505D	ENSP00000295718:A595D	A	-	2	0	PTPRN	219870954	0.974000	0.33945	0.984000	0.44739	0.887000	0.51463	3.587000	0.53957	2.468000	0.83385	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	0	72	243	0	45	0	9.999918e-01	0	61	0	45	2		0	0	0	0	0	2	1	1	71	237	0	45	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRN	5798	broad.mit.edu	37	2	220167053	220167053	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220167053G>A	ENST00000295718.2	-	6	1040	c.800C>T	c.(799-801)cCt>cTt	p.P267L	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L|PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N			65		Renal(207;0.0474)			GGCAGGTGAAGGCCCTGGAAG	0.637000																								0							SO:0001583	missense			ENST00000295718.2	1	1	hg19	CCDS2440.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.91	1.781115	0.31502	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03386	3.95;3.98;3.98	4.85	3.97	0.46021	.	0.435749	0.21121	N	0.079803	T	0.03871	0.0109	N	0.24115	0.695	0.39568	D	0.969238	P;B	0.49090	0.919;0.007	P;B	0.47015	0.534;0.004	T	0.53563	-0.8421	10	0.52906	T	0.07	.	6.2459	0.20818	0.2543:0.0:0.7457:0.0	.	267;267	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	267;267;267;177	ENSP00000386638:P267L;ENSP00000295718:P267L;ENSP00000444244:P177L	ENSP00000295718:P267L	P	-	2	0	PTPRN	219875297	0.998000	0.40836	0.997000	0.53966	0.899000	0.52679	2.115000	0.41921	1.266000	0.44231	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	1	31	149	0	23	0	9.996154e-01	0	62	0	23	2		0	0	0	0	0	2	1	1	31	147	0	22	2								-20.000000	1	1	121404	1	27	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DES	1674	broad.mit.edu	37	2	220286186	220286186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220286186G>A	ENST00000373960.3	+	6	1234	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin			18		Renal(207;0.0183)			GAGATGGCCCGCCATCTGCGC	0.607000																								0							SO:0001583	missense			ENST00000373960.3	1	1	hg19	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516165	0.96402	.	.	ENSG00000175084	ENST00000373960	D	0.90261	-2.64	5.12	5.12	0.69794	Filament (1);	0.000000	0.46442	D	0.000298	D	0.95840	0.8646	M	0.86028	2.79	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	D	0.96252	0.9184	10	0.87932	D	0	.	18.3699	0.90403	0.0:0.0:1.0:0.0	.	383	P17661	DESM_HUMAN	H	383	ENSP00000363071:R383H	ENSP00000363071:R383H	R	+	2	0	DES	219994430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.519000	0.98025	2.646000	0.89796	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	1	0	1	95	312	0	72	1	9.630554e-01	13	7	0	72	2		0	0	0	0	0	2	1	1	94	307	0	71	2								-4.425205	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEG	10290	broad.mit.edu	37	2	220336654	220336654	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220336654C>T	ENST00000312358.7	+	14	3912	c.3780C>T	c.(3778-3780)agC>agT	p.S1260S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus			100		Renal(207;0.0183)			TCTACAAGAGCGTCATTGCCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000312358.7	1	1	hg19	CCDS42824.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	1	41	199	0	51	1	2.108471e-01	2	3	0	51	2		0	0	0	0	0	2	1	1	40	197	0	50	2								-20.000000	1	1	121202	3	32	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEG	10290	broad.mit.edu	37	2	220338459	220338459	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220338459G>T	ENST00000312358.7	+	18	4413	c.4281G>T	c.(4279-4281)ggG>ggT	p.G1427G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus			100		Renal(207;0.0183)			GCTGCCGAGGGGCCCTCCTAG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000312358.7	1	1	hg19	CCDS42824.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	1	167	907	0	151	0	0	1	0	0	151	2		0	0	0	0	0	2	1	1	163	890	0	151	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEG	10290	broad.mit.edu	37	2	220347984	220347984	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220347984C>T	ENST00000312358.7	+	30	5931	c.5799C>T	c.(5797-5799)ccC>ccT	p.P1933P	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus			100		Renal(207;0.0183)			AAGAGCTGCCCTCAGTGCCCC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000312358.7	0	1	hg19	CCDS42824.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	0	9	114	0	13	0	2.210151e-01	1	10	0	13	2		0	0	0	0	0	2	1	9.941519e-01	9	111	0	12	2								-13.749750	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.980000	0.480000	1.000000	1.000000	0.885128	0.980000	1	7.000000e-01	1
SPEG	10290	broad.mit.edu	37	2	220348005	220348005	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220348005G>A	ENST00000312358.7	+	30	5952	c.5820G>A	c.(5818-5820)caG>caA	p.Q1940Q	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus			100		Renal(207;0.0183)			GCCCACTGCAGCCCGAGTTCT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000312358.7	1	1	hg19	CCDS42824.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	1	31	75	0	12	1	8.988018e-01	8	4	0	12	2		0	0	0	0	0	2	1	1	30	73	0	12	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEG	10290	broad.mit.edu	37	2	220355360	220355360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220355360C>A	ENST00000312358.7	+	37	9283	c.9151C>A	c.(9151-9153)Ctc>Atc	p.L3051I	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus			100		Renal(207;0.0183)			CCTCTGTGGGCTCAGTGACAG	0.617000																								0							SO:0001583	missense			ENST00000312358.7	0	1	hg19	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863706	0.51482	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.34	4.34	0.51931	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.36665	N	0.002461	T	0.62295	0.2416	N	0.20357	0.565	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	T	0.57957	-0.7721	10	0.25751	T	0.34	.	7.4991	0.27507	0.1681:0.7426:0.0:0.0893	.	3051	Q15772	SPEG_HUMAN	I	3051	ENSP00000311684:L3051I	ENSP00000265327:L3051I	L	+	1	0	SPEG	220063604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.910000	0.56371	2.417000	0.82017	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	0	0	0	10	356	0	70	0	6.708039e-02	1	13	0	70	2		0	0	0	0	0	2	1	9.965230e-01	9	347	0	69	2								-9.836284	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.370000	0.180000	1.000000	0.350000	0.430351	0.370000	0	2.600000e-01	5.400000e-01
SPEG	10290	broad.mit.edu	37	2	220356957	220356957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220356957C>T	ENST00000312358.7	+	40	9718	c.9586C>T	c.(9586-9588)Cga>Tga	p.R3196*	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	p.R3196*(1)		100		Renal(207;0.0183)			CCTCTTCTTGCGAAAGGTTCT	0.607000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000312358.7	0	1	hg19	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.842842|4.842842	0.91197|0.91197	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000412982|ENST00000312358;ENST00000265327	.|.	.|.	.|.	4.44|4.44	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.33401	.|N	.|0.004949	T|.	0.34571|.	0.0902|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	.|.	13.0031|13.0031	0.58687|0.58687	0.1683:0.8317:0.0:0.0|0.1683:0.8317:0.0:0.0	.|.	.|.	.|.	.|.	V|X	43|3196	.|.	.|ENSP00000265327:R3196X	A|R	+|+	2|1	0|2	SPEG|SPEG	220065201|220065201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	2.403000|2.403000	0.44530|0.44530	1.033000|1.033000	0.39918|0.39918	0.467000|0.467000	0.42956|0.42956	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	0	105	295	0	88	1	9.119149e-01	8	6	0	88	2		0	0	0	0	0	2	1	1	100	282	0	87	2								-6.180212	1	1	121000	1	25	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GMPPA	29926	broad.mit.edu	37	2	220366724	220366724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220366724C>T	ENST00000358215.3	+	5	763	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A			20		Renal(207;0.0183)			AGCCCACCGACGCCAGCGTCA	0.592000																								0							SO:0001583	missense			ENST00000358215.3	1	1	hg19	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197552	0.38806	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	D;D;D;D;T;T;D	0.94330	-3.4;-3.4;-3.4;-3.4;-0.75;-0.75;-3.4	4.89	0.823	0.18812	Nucleotidyl transferase (1);	0.667620	0.15013	N	0.285472	D	0.86847	0.6031	L	0.33339	1.005	0.39447	D	0.967333	B;B	0.13145	0.003;0.007	B;B	0.15484	0.003;0.013	T	0.77803	-0.2451	10	0.45353	T	0.12	-18.2	6.5315	0.22330	0.0:0.651:0.1293:0.2197	.	132;132	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	C	132;132;132;132;132;97;132;62	ENSP00000315925:R132C;ENSP00000363027:R132C;ENSP00000350949:R132C;ENSP00000363016:R132C;ENSP00000392465:R132C;ENSP00000411060:R97C;ENSP00000340760:R132C	ENSP00000315925:R132C	R	+	1	0	GMPPA	220074968	0.985000	0.35326	0.982000	0.44146	0.641000	0.38312	1.580000	0.36547	0.143000	0.18926	-0.291000	0.09656	CGC		TCGA-IB-7651-01A-11D-2154-08	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	1	0	1	108	1149	0	221	1	1	51	299	0	221	2		0	0	0	0	0	2	1	1	106	1127	0	218	2								-19.999980	1	1	121412	44	50	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.900000	1.000000	1.000000	0.991762	0.990000	1	9.900000e-01	1
GMPPA	29926	broad.mit.edu	37	2	220367140	220367140	+	Missense_Mutation	SNP	G	G	A	rs138077680	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220367140G>A	ENST00000358215.3	+	6	835	c.466G>A	c.(466-468)Gtt>Att	p.V156I	GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I|GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A			20		Renal(207;0.0183)			CGGCTGCATCGTTGAGAATCC	0.567000																								0							SO:0001583	missense			ENST00000358215.3	1	0	hg19	CCDS2441.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.3	4.997176	0.93167	0.0	2.33E-4	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.46	4.46	0.54185	Nucleotidyl transferase (1);	0.070922	0.56097	D	0.000035	T	0.79387	0.4437	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.62184	0.837;0.899	T	0.81547	-0.0883	10	0.56958	D	0.05	-19.0138	16.7265	0.85423	0.0:0.0:1.0:0.0	.	156;156	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	I	156;156;156;156;156;121;156;86	ENSP00000315925:V156I;ENSP00000363027:V156I;ENSP00000350949:V156I;ENSP00000363016:V156I;ENSP00000392465:V156I;ENSP00000411060:V121I;ENSP00000340760:V156I	ENSP00000315925:V156I	V	+	1	0	GMPPA	220075384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.046000	0.60703	0.561000	0.74099	GTT		TCGA-IB-7651-01A-11D-2154-08	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	1	0	1	22	147	0	32	1	1	110	243	0	32	2		0	0	0	0	0	2	1	9.999992e-01	22	147	0	31	2								-5.107075	1	1	121412	66	47	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999299	0.990000	1	9.900000e-01	1
GMPPA	29926	broad.mit.edu	37	2	220370767	220370767	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220370767C>A	ENST00000358215.3	+	11	1335	c.966C>A	c.(964-966)agC>agA	p.S322R	GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A			20		Renal(207;0.0183)			TCCGGGAGAGCATCGTCCTCC	0.637000																								0							SO:0001583	missense			ENST00000358215.3	1	1	hg19	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846470	0.51164	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	3.93	2.06	0.26882	Hexapeptide transferase, conserved site (1);	0.176776	0.49916	D	0.000126	D	0.94614	0.8264	M	0.85630	2.765	0.58432	D	0.999999	P;B	0.35493	0.505;0.391	B;B	0.41691	0.364;0.119	D	0.92854	0.6300	10	0.72032	D	0.01	5.0339	10.2762	0.43512	0.0:0.8438:0.0:0.1562	.	375;322	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	R	322;375;322;322;322	ENSP00000315925:S322R;ENSP00000363027:S375R;ENSP00000350949:S322R;ENSP00000363016:S322R;ENSP00000340760:S322R	ENSP00000315925:S322R	S	+	3	2	GMPPA	220079011	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.844000	0.48246	0.402000	0.25451	0.552000	0.68991	AGC		TCGA-IB-7651-01A-11D-2154-08	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	1	0	1	14	59	0	14	1	1	80	155	0	14	2		0	0	0	0	0	2	1	9.998238e-01	13	58	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999915	0.990000	1	9.900000e-01	1
CHPF	79586	broad.mit.edu	37	2	220404532	220404532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220404532G>T	ENST00000243776.6	-	4	2149	c.1901C>A	c.(1900-1902)tCc>tAc	p.S634Y	CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor			21		Renal(207;0.0183)			CTGCCAGCCGGAGATGGCATG	0.652000																								0							SO:0001583	missense			ENST00000243776.6	1	1	hg19	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945595	0.53079	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16457	2.34;2.34	4.62	4.62	0.57501	.	0.291280	0.34200	N	0.004164	T	0.33818	0.0876	L	0.61218	1.895	0.33336	D	0.569161	D	0.56521	0.976	P	0.62649	0.905	T	0.43861	-0.9365	10	0.56958	D	0.05	-17.1883	11.0376	0.47811	0.0:0.0:0.6841:0.3159	.	634	Q8IZ52	CHSS2_HUMAN	Y	634;472	ENSP00000243776:S634Y;ENSP00000445571:S472Y	ENSP00000243776:S634Y	S	-	2	0	CHPF	220112776	0.994000	0.37717	0.973000	0.42090	0.976000	0.68499	2.469000	0.45110	2.563000	0.86464	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	0	0	1	68	847	1	142	1	1	198	1528	1	142	35		0	0	0	0	0	2	1	9.999999e-01	68	839	1	140	21								-3.142702	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.950000	0.740000	1.000000	1.000000	0.931730	0.950000	1	8.400000e-01	1
TMEM198	130612	broad.mit.edu	37	2	220409581	220409581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220409581G>A	ENST00000344458.2	+	3	717	c.132G>A	c.(130-132)atG>atA	p.M44I	RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000243776.6_5'Flank|CHPF_ENST00000373891.2_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I|CHPF_ENST00000535926.1_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198			16		Renal(207;0.0376)			TCTGCATCATGTGCTGTTTGT	0.597000																								0							SO:0001583	missense			ENST00000344458.2	1	1	hg19	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058557	0.55325	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883;ENST00000451952	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.42686	1.345	0.48762	D	0.999707	P	0.47841	0.901	P	0.46208	0.507	T	0.48387	-0.9040	9	0.11485	T	0.65	-32.5733	16.4838	0.84179	0.0:0.0:1.0:0.0	.	44	Q66K66	TM198_HUMAN	I	44;44;44;130	.	ENSP00000343507:M44I	M	+	3	0	TMEM198	220117825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.573000	0.67417	2.305000	0.77605	0.555000	0.69702	ATG		TCGA-IB-7651-01A-11D-2154-08	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	1	81	424	0	74	1	9.960952e-01	15	31	0	74	2		0	0	0	0	0	2	1	1	81	418	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM198	130612	broad.mit.edu	37	2	220412347	220412347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412347G>A	ENST00000344458.2	+	4	871	c.286G>A	c.(286-288)Gcg>Acg	p.A96T	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T			Q66K66	TM198_HUMAN	transmembrane protein 198			16		Renal(207;0.0376)			TGGGGCGAGCGCGGGCATCGC	0.652000																								0							SO:0001583	missense			ENST00000344458.2	1	1	hg19	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871742	0.91587	0.0	1.16E-4	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.071196	0.56097	D	0.000021	T	0.72447	0.3461	M	0.71581	2.175	0.46279	D	0.998965	D	0.67145	0.996	P	0.56163	0.793	T	0.74003	-0.3804	9	0.37606	T	0.19	-26.0437	16.3706	0.83357	0.0:0.0:1.0:0.0	.	96	Q66K66	TM198_HUMAN	T	96	.	ENSP00000343507:A96T	A	+	1	0	TMEM198	220120591	1.000000	0.71417	0.786000	0.31890	0.668000	0.39293	9.472000	0.97709	2.253000	0.74438	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	1	215	1121	0	163	1	9.032119e-01	10	13	0	163	2		0	0	0	0	0	2	1	1	212	1095	0	159	2								-20.000000	1	0	120062	7	43	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM198	130612	broad.mit.edu	37	2	220412405	220412405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412405G>A	ENST00000344458.2	+	4	929	c.344G>A	c.(343-345)aGc>aAc	p.S115N	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N			Q66K66	TM198_HUMAN	transmembrane protein 198			16		Renal(207;0.0376)			CTAGTGCGCAGCGTGGGCCTC	0.701000																								0							SO:0001583	missense			ENST00000344458.2	1	1	hg19	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743012	0.69418	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.084192	0.85682	D	0.000000	T	0.74512	0.3726	M	0.79475	2.455	0.43777	D	0.996302	D	0.59767	0.986	P	0.59012	0.85	T	0.73487	-0.3967	9	0.22706	T	0.39	-15.4832	16.3706	0.83357	0.0:0.0:1.0:0.0	.	115	Q66K66	TM198_HUMAN	N	115	.	ENSP00000343507:S115N	S	+	2	0	TMEM198	220120649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.496000	0.81526	2.253000	0.74438	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	1	111	567	0	63	1	5.606269e-01	7	4	0	63	2		0	0	0	0	0	2	1	1	109	556	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSL1	23363	broad.mit.edu	37	2	220419272	220419272	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220419272G>A	ENST00000404537.1	-	15	4856	c.4800C>T	c.(4798-4800)ggC>ggT	p.G1600G	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.G1508G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1					Renal(207;0.0376)			CCAGGCCCAGGCCATTGAGTA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000404537.1	1	1	hg19	CCDS46520.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	1	0	0	9	216	0	38	1	2.769970e-02	2	4	0	38	2		0	0	0	0	0	2	1	9.941439e-01	9	213	0	38	2								-11.096510	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.540000	0.260000	1.000000	0.490000	0.588283	0.540000	0	3.800000e-01	8.000000e-01
OBSL1	23363	broad.mit.edu	37	2	220424002	220424002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220424002G>A	ENST00000404537.1	-	9	3227	c.3171C>T	c.(3169-3171)ggC>ggT	p.G1057G	OBSL1_ENST00000265318.4_Silent_p.G1057G|OBSL1_ENST00000603926.1_Silent_p.G1057G|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Silent_p.G48G|OBSL1_ENST00000373876.1_Silent_p.G1057G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	p.G1057G(1)				Renal(207;0.0376)			ATACAAACTCGCCCCCGTCCT	0.627000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000404537.1	1	1	hg19	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	0.360	-0.939949	0.02322	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.34	0.0779	0.14410	.	.	.	.	.	T	0.57946	0.2088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52094	-0.8621	4	.	.	.	.	10.546	0.45060	0.0:0.34:0.4822:0.1779	.	.	.	.	V	51	.	.	A	-	2	0	OBSL1	220132246	0.958000	0.32768	0.997000	0.53966	0.051000	0.14879	0.087000	0.14958	-0.098000	0.12285	-2.717000	0.00132	GCG		TCGA-IB-7651-01A-11D-2154-08	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	1	0	1	133	685	0	133	0	9.735714e-01	1	31	0	133	2		0	0	0	0	0	2	1	1	131	667	0	133	2								-20.000000	1	1	121296	1	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OBSL1	23363	broad.mit.edu	37	2	220431577	220431577	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220431577C>A	ENST00000404537.1	-	5	2165	c.2109G>T	c.(2107-2109)caG>caT	p.Q703H	OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1					Renal(207;0.0376)			CAGCTGAGTCCTGCACGCCGG	0.597000																								0							SO:0001583	missense			ENST00000404537.1	1	1	hg19	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874794	0.17395	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.23	2.3	0.28687	.	.	.	.	.	T	0.30634	0.0771	L	0.33485	1.01	0.34611	D	0.717528	B;B;B;B	0.15719	0.014;0.002;0.009;0.014	B;B;B;B	0.24701	0.022;0.007;0.005;0.055	T	0.31251	-0.9950	9	0.44086	T	0.13	.	7.1136	0.25405	0.0:0.6768:0.1574:0.1658	.	704;703;290;703	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	H	703;703;703;703;290	ENSP00000265318:Q703H;ENSP00000385636:Q703H;ENSP00000362983:Q703H;ENSP00000362980:Q703H;ENSP00000289656:Q290H	ENSP00000265318:Q703H	Q	-	3	2	OBSL1	220139821	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.762000	0.26503	0.776000	0.33473	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	1	0	1	74	344	0	70	1	1	17	105	0	70	2		0	0	0	0	0	2	1	1	72	338	0	68	2								-3.134830	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK11IP	114790	broad.mit.edu	37	2	220473436	220473436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473436C>T	ENST00000456909.1	+	15	1825	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R590*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein			23		Renal(207;0.0183)			CACCTTGGAGCGACTGGAGCT	0.657000																								0							SO:0001587	stop_gained			ENST00000456909.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	38	6.930152	0.97944	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	.	.	.	4.21	3.32	0.38043	.	0.164085	0.36482	N	0.002580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8113	9.2282	0.37421	0.3935:0.6065:0.0:0.0	.	.	.	.	X	579;558;590	.	ENSP00000295641:R590X	R	+	1	2	STK11IP	220181680	0.991000	0.36638	0.935000	0.37517	0.769000	0.43574	2.815000	0.48018	0.961000	0.38030	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	1	0	0	10	139	0	21	0	8.114895e-01	0	44	0	21	2		0	0	0	0	0	2	1	9.965408e-01	10	133	0	21	2								-14.364710	1	1	120836	4	33	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.900000	0.460000	1.000000	1.000000	0.851143	0.900000	1	6.500000e-01	1
STK11IP	114790	broad.mit.edu	37	2	220473895	220473895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473895G>A	ENST00000456909.1	+	16	1976	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein			23		Renal(207;0.0183)			CAGTTGCGTCGCTATTTGGTG	0.647000																								0							SO:0001583	missense			ENST00000456909.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.6	4.439158	0.83885	0.0	1.19E-4	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05996	3.36;3.36	5.0	5.0	0.66597	.	0.486615	0.20714	N	0.087027	T	0.19046	0.0457	L	0.60455	1.87	0.34520	D	0.708063	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.62014	0.897;0.897;0.855	T	0.04178	-1.0971	10	0.46703	T	0.11	-12.346	15.3457	0.74334	0.0:0.0:1.0:0.0	.	608;640;640	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	H	629;608;640	ENSP00000389383:R629H;ENSP00000295641:R640H	ENSP00000295641:R640H	R	+	2	0	STK11IP	220182139	0.994000	0.37717	0.991000	0.47740	0.982000	0.71751	2.394000	0.44450	2.595000	0.87683	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	1	0	1	17	51	0	11	1	9.998414e-01	20	31	0	11	2		0	0	0	0	0	2	1	9.999862e-01	17	51	0	10	2								-14.779350	1	1	120840	5	31	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
STK11IP	114790	broad.mit.edu	37	2	220479906	220479906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479906C>A	ENST00000456909.1	+	24	3050	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	STK11IP_ENST00000295641.10_Missense_Mutation_p.S998Y			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein			23		Renal(207;0.0183)			GCAGAGCCCTCTCCTCCAGCA	0.652000																								0							SO:0001583	missense			ENST00000456909.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.315|9.315	1.056601|1.056601	0.19907|0.19907	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000447191|ENST00000456909;ENST00000295641	.|T;T	.|0.05513	.|3.43;3.43	4.63|4.63	0.678|0.678	0.17969|0.17969	.|.	.|0.798511	.|0.11322	.|N	.|0.575908	T|T	0.04092|0.04092	0.0114|0.0114	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.16603	.|0.018	.|B	.|0.17722	.|0.019	T|T	0.43458|0.43458	-0.9390|-0.9390	5|10	.|0.66056	.|D	.|0.02	-0.0309|-0.0309	1.5459|1.5459	0.02565|0.02565	0.1706:0.4752:0.1656:0.1887|0.1706:0.4752:0.1656:0.1887	.|.	.|998	.|Q8N1F8	.|S11IP_HUMAN	I|Y	87|987;998	.|ENSP00000389383:S987Y;ENSP00000295641:S998Y	.|ENSP00000295641:S998Y	L|S	+|+	1|2	0|0	STK11IP|STK11IP	220188150|220188150	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	1.195000|1.195000	0.32186|0.32186	-0.055000|-0.055000	0.13244|0.13244	-0.291000|-0.291000	0.09656|0.09656	CTC|TCT		TCGA-IB-7651-01A-11D-2154-08	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	0	0	0	5	54	0	22	1	9.430127e-01	2	58	0	22	2		0	0	0	0	0	2	1	9.403762e-01	5	54	0	22	2								-10.800800	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.450000	1.000000	1.000000	0.912451	0.990000	1	7.500000e-01	1
STK11IP	114790	broad.mit.edu	37	2	220479972	220479972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479972G>A	ENST00000456909.1	+	24	3116	c.3026G>A	c.(3025-3027)cGt>cAt	p.R1009H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein			23		Renal(207;0.0183)			CCTGCTGTGCGTGTCAGGGAG	0.652000																								0							SO:0001583	missense			ENST00000456909.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.291|3.291	-0.144925|-0.144925	0.06627|0.06627	.|.	.|.	ENSG00000144589|ENSG00000144589	ENST00000456909;ENST00000295641|ENST00000447191	T;T|.	0.04917|.	3.54;3.53|.	4.53|4.53	0.362|0.362	0.16113|0.16113	.|.	1.300970|.	0.04990|.	N|.	0.467081|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.29305|0.29305	-1.0016|-1.0016	10|5	0.30854|.	T|.	0.27|.	1.988|1.988	6.9002|6.9002	0.24279|0.24279	0.4374:0.0:0.5626:0.0|0.4374:0.0:0.5626:0.0	.|.	1020|.	Q8N1F8|.	S11IP_HUMAN|.	H|M	1009;1020|109	ENSP00000389383:R1009H;ENSP00000295641:R1020H|.	ENSP00000295641:R1020H|.	R|V	+|+	2|1	0|0	STK11IP|STK11IP	220188216|220188216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.210000|-0.210000	0.09345|0.09345	0.125000|0.125000	0.18397|0.18397	0.561000|0.561000	0.74099|0.74099	CGT|GTG		TCGA-IB-7651-01A-11D-2154-08	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	1	0	1	16	81	0	16	1	9.991832e-01	21	44	0	16	2		0	0	0	0	0	2	1	9.999478e-01	15	79	0	16	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999814	0.990000	1	9.900000e-01	1
SLC4A3	6508	broad.mit.edu	37	2	220496996	220496996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496996C>T	ENST00000358055.3	+	8	1485	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Silent_p.L352L|SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000373760.2_Silent_p.L325L|SLC4A3_ENST00000317151.3_Silent_p.L325L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3			51		Renal(207;0.0183)			GTTCGTGGAGCTGAACGAGCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000358055.3	1	1	hg19	CCDS2445.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	1	0	1	53	216	0	46	1	8.726677e-01	5	12	0	46	2		0	0	0	0	0	2	1	1	52	211	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC4A3	6508	broad.mit.edu	37	2	220497695	220497695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220497695G>A	ENST00000358055.3	+	9	1753	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3			51		Renal(207;0.0183)			CCGGAGGACAGGGCCAGCGTC	0.647000																								0							SO:0001583	missense			ENST00000358055.3	1	1	hg19	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758539	0.89843	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.72	4.72	0.59763	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	L	0.53780	1.695	0.80722	D	1	D;D	0.63880	0.975;0.993	D;D	0.65323	0.934;0.916	T	0.74942	-0.3492	10	0.31617	T	0.26	.	17.71	0.88319	0.0:0.0:1.0:0.0	.	414;441	P48751;P48751-3	B3A3_HUMAN;.	K	414;414;441;441;414;216	ENSP00000350756:R414K;ENSP00000362865:R414K;ENSP00000273063:R441K;ENSP00000362867:R441K;ENSP00000314006:R414K;ENSP00000414722:R216K	ENSP00000273063:R441K	R	+	2	0	SLC4A3	220205939	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.859000	0.99545	2.163000	0.67991	0.643000	0.83706	AGG		TCGA-IB-7651-01A-11D-2154-08	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	1	0	1	40	230	0	51	1	8.352088e-01	5	16	0	51	2		0	0	0	0	0	2	1	1	40	228	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SLC4A3	6508	broad.mit.edu	37	2	220504209	220504209	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220504209T>G	ENST00000358055.3	+	20	3541	c.3029T>G	c.(3028-3030)aTc>aGc	p.I1010S	SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3			51		Renal(207;0.0183)			TGCAGGCTTATCGTCAGCCAG	0.662000																								0							SO:0001583	missense			ENST00000358055.3	1	1	hg19	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703605	0.68501	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.38	4.38	0.52667	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.96060	0.9038	10	0.87932	D	0	.	14.0874	0.64968	0.0:0.0:0.0:1.0	.	714;1010;1037	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	S	1010;1010;1037;1037;270;1010	ENSP00000350756:I1010S;ENSP00000362865:I1010S;ENSP00000273063:I1037S;ENSP00000362867:I1037S;ENSP00000314006:I1010S	ENSP00000273063:I1037S	I	+	2	0	SLC4A3	220212453	1.000000	0.71417	0.932000	0.37286	0.580000	0.36256	7.699000	0.84547	1.968000	0.57251	0.440000	0.28878	ATC		TCGA-IB-7651-01A-11D-2154-08	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	1	0	1	85	480	0	87	1	9.773079e-01	7	29	0	87	2		0	0	0	0	0	2	1	1	80	448	0	78	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA4	2043	broad.mit.edu	37	2	222294720	222294720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222294720C>T	ENST00000281821.2	-	15	2689	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H	EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R883H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4			49		Renal(207;0.0183)			GTTGGGGTTGCGGATGAGTTT	0.512000																								0							SO:0001583	missense			ENST00000281821.2	1	1	hg19	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994878	0.93167	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.89	5.89	0.94794	Protein kinase-like domain (1);	0.097095	0.64402	D	0.000001	T	0.76737	0.4029	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76366	-0.2985	10	0.66056	D	0.02	.	20.3344	0.98733	0.0:1.0:0.0:0.0	.	883	P54764	EPHA4_HUMAN	H	883;883;883;832	ENSP00000281821:R883H;ENSP00000386276:R883H;ENSP00000386829:R883H;ENSP00000375923:R832H	ENSP00000281821:R883H	R	-	2	0	EPHA4	222002964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.087000	0.71362	2.822000	0.97130	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3	1	0	1	126	739	0	120	0	5.838995e-02	0	3	0	120	2		0	0	0	0	0	2	1	1	125	731	0	120	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA4	2043	broad.mit.edu	37	2	222428879	222428879	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222428879T>C	ENST00000281821.2	-	3	436	c.395A>G	c.(394-396)gAc>gGc	p.D132G	EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G|EPHA4_ENST00000409854.1_Missense_Mutation_p.D132G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4			49		Renal(207;0.0183)			ACGCTCTTTGTCGTTGTCTGA	0.443000																								0							SO:0001583	missense			ENST00000281821.2	1	1	hg19	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373050	0.61624	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.71581	2.175	0.80722	D	1	P	0.36712	0.566	B	0.40702	0.338	T	0.00443	-1.1736	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	132	P54764	EPHA4_HUMAN	G	132;132;132;81;73;132	ENSP00000281821:D132G;ENSP00000386276:D132G;ENSP00000386829:D132G;ENSP00000375923:D81G;ENSP00000410158:D73G;ENSP00000444085:D132G	ENSP00000281821:D132G	D	-	2	0	EPHA4	222137123	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.289000	0.72696	2.371000	0.80710	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3	1	0	0	28	695	0	117	0	2.211023e-02	0	6	0	117	2		0	0	0	0	0	2	1	1	28	691	0	117	2								-3.793843	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.500000	0.330000	1.000000	0.490000	0.547911	0.500000	0	4.100000e-01	6.400000e-01
FARSB	10056	broad.mit.edu	37	2	223496342	223496342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223496342G>A	ENST00000281828.6	-	8	1030	c.767C>T	c.(766-768)aCg>aTg	p.T256M	FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	p.T256M(1)		24		Renal(207;0.0183)		L-Phenylalanine(DB00120)	GTCAGTTCCCGTGCATTCAAT	0.299000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000281828.6	1	1	hg19	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818072	0.71028	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.32515	1.45;1.45	5.35	5.35	0.76521	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.046696	0.85682	D	0.000000	T	0.73140	0.3549	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.85097	0.0955	10	0.87932	D	0	-11.8711	17.3077	0.87199	0.0:0.0:1.0:0.0	.	256;256	A8K666;Q9NSD9	.;SYFB_HUMAN	M	256;157	ENSP00000281828:T256M;ENSP00000442950:T157M	ENSP00000281828:T256M	T	-	2	0	FARSB	223204586	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.814000	0.86154	2.502000	0.84385	0.585000	0.79938	ACG		TCGA-IB-7651-01A-11D-2154-08	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	1	0	1	92	316	0	105	1	1	53	114	0	105	2		0	0	0	0	0	2	1	1	89	310	0	105	2								-20.000000	1	1	121386	5	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSL3	2181	broad.mit.edu	37	2	223773626	223773626	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223773626G>A	ENST00000357430.3	+	4	667	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	p.E46*(2)		22		Renal(207;0.0183)		Icosapent(DB00159)	TTTTTTCTCCGAGTCAAGACA	0.299000			T	ETV1	prostate										Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Nonsense(2)						SO:0001583	missense			ENST00000357430.3	1	1	hg19	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611047	0.46631	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.33216	1.42;1.42	5.22	5.22	0.72569	.	0.319425	0.34362	N	0.004030	T	0.17365	0.0417	N	0.05078	-0.115	0.41100	D	0.985667	B	0.24483	0.104	B	0.15870	0.014	T	0.09058	-1.0692	10	0.19590	T	0.45	-18.1443	18.9699	0.92711	0.0:0.0:1.0:0.0	.	46	O95573	ACSL3_HUMAN	K	46	ENSP00000350012:E46K;ENSP00000375918:E46K	ENSP00000350012:E46K	E	+	1	0	ACSL3	223481870	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.483000	0.60264	2.703000	0.92315	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	1	0	1	95	495	0	114	1	1	27	122	0	114	2		0	0	0	0	0	2	1	1	94	487	0	113	2								-3.322515	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSL3	2181	broad.mit.edu	37	2	223783810	223783810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223783810G>A	ENST00000357430.3	+	7	1226	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	p.R232Q(2)		22		Renal(207;0.0183)		Icosapent(DB00159)	CCACGCCTGCGGCACATCATC	0.483000			T	ETV1	prostate										Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Missense(2)						SO:0001583	missense			ENST00000357430.3	1	1	hg19	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196268	0.58126	0.0	1.16E-4	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.41400	2.81;2.81;1.0	5.65	4.77	0.60923	AMP-dependent synthetase/ligase (1);	0.118921	0.64402	D	0.000015	T	0.25457	0.0619	N	0.08118	0	0.48511	D	0.999661	B	0.23316	0.083	B	0.19148	0.024	T	0.04781	-1.0927	10	0.46703	T	0.11	-10.7174	14.5474	0.68041	0.0702:0.0:0.9298:0.0	.	232	O95573	ACSL3_HUMAN	Q	232;232;80	ENSP00000350012:R232Q;ENSP00000375918:R232Q;ENSP00000441643:R80Q	ENSP00000350012:R232Q	R	+	2	0	ACSL3	223492054	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.937000	0.70162	1.402000	0.46780	-0.136000	0.14681	CGG		TCGA-IB-7651-01A-11D-2154-08	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	1	0	0	67	219	0	43	1	1	64	132	0	43	2		0	0	0	0	0	2	1	1	67	218	0	43	2								-4.033103	1	1	121412	3	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSL3	2181	broad.mit.edu	37	2	223786120	223786120	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223786120G>T	ENST00000357430.3	+	8	1459	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3			22		Renal(207;0.0183)		Icosapent(DB00159)	TGGTATAACTGGGATGGCAGA	0.368000			T	ETV1	prostate										Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0							SO:0001583	missense			ENST00000357430.3	1	1	hg19	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792366	0.90453	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	T;T;T	0.43688	2.84;2.84;0.94	5.11	5.11	0.69529	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78349	-0.2238	10	0.87932	D	0	-13.1041	18.5621	0.91104	0.0:0.0:1.0:0.0	.	310	O95573	ACSL3_HUMAN	W	310;310;80	ENSP00000350012:G310W;ENSP00000375918:G310W;ENSP00000404182:G80W	ENSP00000350012:G310W	G	+	1	0	ACSL3	223494364	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	9.869000	0.99810	2.374000	0.81015	0.591000	0.81541	GGG		TCGA-IB-7651-01A-11D-2154-08	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	0	0	1	172	564	0	155	1	1	98	161	0	155	2		0	0	0	0	0	2	1	1	169	554	0	155	2								-4.560555	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNE4	23704	broad.mit.edu	37	2	223917882	223917882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223917882G>A	ENST00000281830.3	+	2	818	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4			10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)			CGTGGCGCCCGCGCTGTCCTG	0.672000																								0							SO:0001583	missense			ENST00000281830.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.29	3.592390	0.66219	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.24	0.73138	.	0.120024	0.64402	D	0.000014	T	0.27349	0.0671	N	0.14661	0.345	0.38093	D	0.937028	P	0.48998	0.918	B	0.35510	0.204	T	0.21724	-1.0237	9	0.48119	T	0.1	-7.5564	12.892	0.58076	0.0:0.1159:0.7509:0.1332	.	112	Q8WWG9	KCNE4_HUMAN	T	112	.	ENSP00000281830:A112T	A	+	1	0	KCNE4	223626126	1.000000	0.71417	0.972000	0.41901	1.000000	0.99986	3.571000	0.53841	2.937000	0.99478	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	1	0	1	108	268	0	54	0	9.999957e-01	0	48	0	54	2		0	0	0	0	0	2	1	1	108	265	0	53	2								-20.000000	1	1	121406	1	20	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCG2	7857	broad.mit.edu	37	2	224463355	224463355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463355G>A	ENST00000305409.2	-	2	878	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II			44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)			ATCCTCTCACGTTTCTGGTTG	0.423000																								0							SO:0001583	missense			ENST00000305409.2	1	1	hg19	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.190095	0.21954	2.27E-4	0.0	ENSG00000171951	ENST00000305409	T	0.02369	4.32	5.74	4.86	0.63082	.	0.176089	0.45361	D	0.000371	T	0.12902	0.0313	M	0.66939	2.045	0.51767	D	0.999934	D	0.89917	1.0	D	0.76575	0.988	T	0.00280	-1.1852	10	0.87932	D	0	.	13.072	0.59068	0.0:0.0:0.5598:0.4402	.	216	P13521	SCG2_HUMAN	C	216	ENSP00000304133:R216C	ENSP00000304133:R216C	R	-	1	0	SCG2	224171599	0.994000	0.37717	0.998000	0.56505	0.105000	0.19272	2.047000	0.41269	1.406000	0.46857	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	1	0	1	153	766	0	143	0	1	1	222	0	143	2		0	0	0	0	0	2	1	1	146	748	0	142	2								-20.000000	1	0	121412	3	42	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCG2	7857	broad.mit.edu	37	2	224463404	224463404	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463404T>A	ENST00000305409.2	-	2	829	c.597A>T	c.(595-597)gaA>gaT	p.E199D		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II			44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)			GGAAGACAGATTCCAATGTAG	0.423000																								0							SO:0001583	missense			ENST00000305409.2	1	1	hg19	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201959	0.58234	.	.	ENSG00000171951	ENST00000305409	T	0.01745	4.66	5.65	-0.275	0.12906	.	0.199090	0.45361	D	0.000371	T	0.06142	0.0159	L	0.60455	1.87	0.36118	D	0.845319	D	0.71674	0.998	D	0.67725	0.953	T	0.11991	-1.0565	10	0.62326	D	0.03	.	12.1782	0.54198	0.0:0.5511:0.0:0.4489	.	199	P13521	SCG2_HUMAN	D	199	ENSP00000304133:E199D	ENSP00000304133:E199D	E	-	3	2	SCG2	224171648	0.216000	0.23585	0.999000	0.59377	0.990000	0.78478	-0.391000	0.07323	0.146000	0.19002	0.477000	0.44152	GAA		TCGA-IB-7651-01A-11D-2154-08	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	1	0	1	146	690	0	122	0	1	1	149	0	122	2		0	0	0	0	0	2	1	1	145	682	0	122	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINE2	5270	broad.mit.edu	37	2	224856691	224856691	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224856691C>A	ENST00000258405.4	-	4	756	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	SERPINE2_ENST00000409840.3_Missense_Mutation_p.D172Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y|SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2			17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)			TCAATAAGATCTGGGGACAGC	0.488000																								0							SO:0001583	missense			ENST00000258405.4	1	1	hg19	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498938	0.64298	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	T;T;T;T;T	0.76060	1.82;-0.99;1.82;1.82;1.82	5.8	3.03	0.35002	Serpin domain (3);	0.255713	0.44902	D	0.000417	D	0.86965	0.6060	M	0.92833	3.35	0.58432	D	0.999991	D;D	0.60160	0.987;0.987	D;P	0.66084	0.941;0.904	D	0.86978	0.2102	10	0.87932	D	0	.	10.199	0.43071	0.0:0.7855:0.0:0.2145	.	184;172	B4DIF2;P07093	.;GDN_HUMAN	Y	172;172;172;184;172	ENSP00000386412:D172Y;ENSP00000258405:D172Y;ENSP00000386969:D172Y;ENSP00000415786:D184Y;ENSP00000408452:D172Y	ENSP00000258405:D172Y	D	-	1	0	SERPINE2	224564935	0.993000	0.37304	0.012000	0.15200	0.982000	0.71751	3.012000	0.49575	0.364000	0.24374	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	1	0	1	36	139	0	30	1	1	51	158	0	30	2		0	0	0	0	0	2	1	1	36	138	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINE2	5270	broad.mit.edu	37	2	224866571	224866571	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224866571G>T	ENST00000258405.4	-	2	289	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SERPINE2_ENST00000409840.3_Missense_Mutation_p.P16H|SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H|SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2			17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)			GCAGATGGAAGGCAGCGTCAC	0.483000																								0							SO:0001583	missense			ENST00000258405.4	1	1	hg19	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982535	0.18889	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;T;D	0.84730	-1.88;-0.89;-1.88;-1.89;-1.48;-1.61	5.17	4.28	0.50868	Serpin domain (1);	0.803013	0.11963	N	0.512566	T	0.68997	0.3062	N	0.08118	0	0.09310	N	1	P;P	0.35923	0.528;0.528	B;B	0.33521	0.165;0.165	T	0.55515	-0.8129	10	0.15066	T	0.55	.	10.7667	0.46297	0.0706:0.0:0.7983:0.1311	.	28;16	B4DIF2;P07093	.;GDN_HUMAN	H	16;16;16;28;16;16;16	ENSP00000386412:P16H;ENSP00000258405:P16H;ENSP00000386969:P16H;ENSP00000415786:P28H;ENSP00000408452:P16H;ENSP00000399655:P16H	ENSP00000258405:P16H	P	-	2	0	SERPINE2	224574815	0.995000	0.38212	0.228000	0.23943	0.098000	0.18820	3.601000	0.54059	1.269000	0.44280	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	1	0	1	80	474	0	83	1	9.999989e-01	29	88	0	83	2		0	0	0	0	0	2	1	1	78	463	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM124B	79843	broad.mit.edu	37	2	225266170	225266170	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225266170G>T	ENST00000409685.3	-	1	581	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	FAM124B_ENST00000243806.2_Missense_Mutation_p.L106M|FAM124B_ENST00000389874.3_Missense_Mutation_p.L106M	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B			16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)			TAGGGACACAGCCTTCCCCGA	0.597000																								0							SO:0001583	missense			ENST00000409685.3	1	1	hg19	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601680	0.28534	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44083	0.93;0.93;0.93	5.69	0.361	0.16107	.	1.078210	0.07017	N	0.826143	T	0.39253	0.1071	L	0.36672	1.1	0.09310	N	1	P;B	0.47253	0.892;0.429	P;B	0.50537	0.643;0.323	T	0.31194	-0.9952	10	0.29301	T	0.29	-2.5578	5.3943	0.16261	0.3452:0.0:0.4768:0.1779	.	106;106	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	M	106	ENSP00000374524:L106M;ENSP00000386895:L106M;ENSP00000243806:L106M	ENSP00000243806:L106M	L	-	1	2	FAM124B	224974414	0.787000	0.28750	0.004000	0.12327	0.552000	0.35366	1.063000	0.30567	0.325000	0.23359	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	1	0	0	15	205	1	38	0	2.954551e-02	0	4	1	38	2		0	0	0	0	0	2	1	9.998724e-01	15	201	0	36	2								-19.313970	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.900000	0.520000	1.000000	1.000000	0.864460	0.900000	1	6.900000e-01	1
CUL3	8452	broad.mit.edu	37	2	225362504	225362504	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225362504T>C	ENST00000264414.4	-	12	2011	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	CUL3_ENST00000344951.4_Missense_Mutation_p.D492G|CUL3_ENST00000409096.1_Missense_Mutation_p.D534G|CUL3_ENST00000409777.1_Missense_Mutation_p.D534G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3			46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)			GGCATTGAGATCTGCAGAACC	0.358000																								0							SO:0001583	missense			ENST00000264414.4	1	1	hg19	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	34	5.371427	0.95923	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.71674	0.993;0.994;0.993;0.998	P;D;P;D	0.68353	0.888;0.932;0.888;0.957	D	0.91128	0.4935	10	0.51188	T	0.08	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	492;536;534;558	Q13618-3;Q53S54;Q13618-2;Q13618	.;.;.;CUL3_HUMAN	G	558;492;534;534	ENSP00000264414:D558G;ENSP00000343601:D492G;ENSP00000387200:D534G;ENSP00000386525:D534G	ENSP00000264414:D558G	D	-	2	0	CUL3	225070748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.023000	0.88764	2.367000	0.80283	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2	0	0	1	85	322	1	79	1	1	90	258	1	79	16		0	0	0	0	0	2	1	1	81	316	1	78	17								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK10	55619	broad.mit.edu	37	2	225637950	225637950	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225637950A>C	ENST00000258390.7	-	53	6195	c.6128T>G	c.(6127-6129)cTt>cGt	p.L2043R	DOCK10_ENST00000409592.3_Missense_Mutation_p.L2037R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10			87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)			AAGCTGATTAAGCTCAGAAAC	0.458000																								0							SO:0001583	missense			ENST00000258390.7	1	1	hg19	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722240	0.89298	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.39592	1.07;1.07	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.80625	-0.1299	10	0.87932	D	0	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	2043;2037;705	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	R	2037;2043;550	ENSP00000386694:L2037R;ENSP00000258390:L2043R	ENSP00000258390:L2043R	L	-	2	0	DOCK10	225346194	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	8.962000	0.93254	2.145000	0.66743	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	1	0	1	52	174	0	39	0	9.999650e-01	0	55	0	39	2		0	0	0	0	0	2	1	1	51	173	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK10	55619	broad.mit.edu	37	2	225639794	225639794	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225639794G>A	ENST00000258390.7	-	52	5908	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I	DOCK10_ENST00000409592.3_Silent_p.I1941I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10			87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)			AGGTCACCTGGATGTAGGCAT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000258390.7	1	1	hg19	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278103	0.23307	.	.	ENSG00000135905	ENST00000535663	.	.	.	5.48	4.59	0.56863	.	.	.	.	.	T	0.63129	0.2485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61628	-0.7024	4	.	.	.	.	11.8314	0.52297	0.148:0.0:0.852:0.0	.	.	.	.	S	97	.	.	P	-	1	0	DOCK10	225348038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.350000	0.52224	1.413000	0.46997	0.563000	0.77884	CCA		TCGA-IB-7651-01A-11D-2154-08	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	1	0	1	46	151	0	39	0	9.999870e-01	0	60	0	39	2		0	0	0	0	0	2	1	1	46	147	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK10	55619	broad.mit.edu	37	2	225651780	225651780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651780G>A	ENST00000258390.7	-	50	5681	c.5614C>T	c.(5614-5616)Cgg>Tgg	p.R1872W	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1866W	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10			87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)			CCAAACAGCCGCTTCTCCGAA	0.433000																								0							SO:0001583	missense			ENST00000258390.7	1	1	hg19	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.045660|4.045660	0.75846|0.75846	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000535663|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.33865	.|1.39;1.39	5.99|5.99	4.15|4.15	0.48705|0.48705	.|.	.|0.111909	.|0.56097	.|D	.|0.000022	T|T	0.68815|0.68815	0.3042|0.3042	M|M	0.93328|0.93328	3.405|3.405	0.47737|0.47737	D|D	0.999502|0.999502	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.999	T|T	0.77456|0.77456	-0.2581|-0.2581	5|10	.|0.87932	.|D	.|0	.|.	14.1883|14.1883	0.65620|0.65620	0.0:0.0:0.6072:0.3928|0.0:0.0:0.6072:0.3928	.|.	.|1872;693;1866;534	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	V|W	19|1866;1872;377	.|ENSP00000386694:R1866W;ENSP00000258390:R1872W	.|ENSP00000258390:R1872W	A|R	-|-	2|1	0|2	DOCK10|DOCK10	225360024|225360024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.115000|3.115000	0.50391|0.50391	0.822000|0.822000	0.34565|0.34565	0.655000|0.655000	0.94253|0.94253	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	1	0	1	154	431	0	109	0	9.999979e-01	0	55	0	109	2		0	0	0	0	0	2	1	1	152	424	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRS1	3667	broad.mit.edu	37	2	227660982	227660982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227660982G>A	ENST00000305123.5	-	1	3493	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1			69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)			CTGGGCTCCAGCCTAGCCCCG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000305123.5	1	1	hg19	CCDS2463.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	1	0	0	49	641	0	93	1	9.855523e-01	7	81	0	93	2		0	0	0	0	0	2	1	1	46	633	0	93	2								-10.932950	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.910000	0.680000	1.000000	1.000000	0.901411	0.910000	1	7.800000e-01	1
RHBDD1	84236	broad.mit.edu	37	2	227771551	227771551	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227771551A>G	ENST00000341329.3	+	4	851	c.609A>G	c.(607-609)ctA>ctG	p.L203L	RHBDD1_ENST00000392062.2_Silent_p.L203L|RHBDD1_ENST00000409053.1_Silent_p.L37L	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1			19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)			TTGTTGGACTAATGTACACTC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000341329.3	1	1	hg19	CCDS2464.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2	1	0	1	146	395	0	104	1	1	46	66	0	104	2		0	0	0	0	0	2	1	1	142	389	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL4A4	1286	broad.mit.edu	37	2	227945157	227945157	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227945157A>G	ENST00000396625.3	-	24	2011		c.e24+1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4			98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)			AATTCTACATACTGGAGGTCC	0.448000																								0							SO:0001630	splice_region_variant			ENST00000396625.3	1	1	hg19	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242599	0.22796	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8654	0.35282	0.9169:0.0:0.0831:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A4	227653401	1.000000	0.71417	0.960000	0.40013	0.030000	0.12068	5.234000	0.65343	2.269000	0.75478	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	1	97	521	0	123	1	1.207526e-01	4	0	0	123	2		0	0	0	0	0	2	1	1	96	516	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL4A4	1286	broad.mit.edu	37	2	227963476	227963476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227963476C>A	ENST00000396625.3	-	19	1345	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4			98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)			TCCCCTGTTTCTCCATAGCGG	0.527000																								0							SO:0001587	stop_gained			ENST00000396625.3	0	1	hg19	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	38	7.188080	0.98121	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.3395	0.74284	0.0:1.0:0.0:0.0	.	.	.	.	X	380	.	ENSP00000328553:E380X	E	-	1	0	COL4A4	227671720	1.000000	0.71417	0.988000	0.46212	0.461000	0.32589	4.035000	0.57297	2.701000	0.92244	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	0	23	313	0	71	0	6.589124e-01	0	32	0	71	2		0	0	0	0	0	2	1	9.999993e-01	23	307	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.890000	0.570000	1.000000	1.000000	0.872033	0.890000	1	7.200000e-01	1
COL4A4	1286	broad.mit.edu	37	2	227966227	227966227	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227966227C>A	ENST00000396625.3	-	17	1229	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4			98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)			TACCTTTGGGCCAATTAATCC	0.328000																								0							SO:0001583	missense			ENST00000396625.3	1	1	hg19	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016752	0.54468	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.54	5.54	0.83059	.	.	.	.	.	D	0.99606	0.9857	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97902	1.0303	9	0.87932	D	0	.	15.3403	0.74290	0.0:1.0:0.0:0.0	.	341	P53420	CO4A4_HUMAN	V	341	ENSP00000379866:G341V;ENSP00000328553:G341V	ENSP00000328553:G341V	G	-	2	0	COL4A4	227674471	0.995000	0.38212	0.988000	0.46212	0.423000	0.31445	3.739000	0.55075	2.779000	0.95612	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	1	17	108	0	31	1	9.755357e-01	20	22	0	31	2		0	0	0	0	0	2	1	9.999755e-01	17	107	0	30	2								-10.532790	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.998917	0.990000	1	9.900000e-01	1
COL4A4	1286	broad.mit.edu	37	2	228004944	228004944	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228004944T>G	ENST00000396625.3	-	4	332	c.125A>C	c.(124-126)aAa>aCa	p.K42T	COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4			98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)			ACCAATGTATTTCTTTCCACT	0.408000																								0							SO:0001583	missense			ENST00000396625.3	1	1	hg19	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079944	0.76528	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.91124	-2.79;-2.76	5.91	5.91	0.95273	.	.	.	.	.	D	0.90844	0.7124	N	0.19112	0.55	0.32287	N	0.566803	D	0.89917	1.0	D	0.85130	0.997	D	0.90618	0.4557	9	0.37606	T	0.19	.	12.7401	0.57246	0.0:0.0:0.0:1.0	.	42	P53420	CO4A4_HUMAN	T	42	ENSP00000379866:K42T;ENSP00000328553:K42T	ENSP00000328553:K42T	K	-	2	0	COL4A4	227713188	1.000000	0.71417	0.987000	0.45799	0.926000	0.56050	2.456000	0.44997	2.254000	0.74563	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	1	0	0	21	240	0	42	1	4.163050e-01	2	15	0	42	2		0	0	0	0	0	2	1	9.999973e-01	20	234	0	40	2								-8.073746	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.660000	1.000000	1.000000	0.942558	0.990000	1	8.400000e-01	1
COL4A3	1285	broad.mit.edu	37	2	228145242	228145242	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228145242T>C	ENST00000396578.3	+	30	2472	c.2310T>C	c.(2308-2310)atT>atC	p.I770I	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)			55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)			ATGGAGAAATTGGACTCCCTG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000396578.3	1	1	hg19	CCDS42829.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	1	0	1	137	381	0	121	1	2.882628e-01	3	1	0	121	2		0	0	0	0	0	2	1	1	135	376	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL4A3	1285	broad.mit.edu	37	2	228158022	228158022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228158022C>T	ENST00000396578.3	+	38	3488	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)			55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)			CCTGGAAGTCCTGGCCTCCCA	0.507000																								0							SO:0001583	missense			ENST00000396578.3	1	1	hg19	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159271	0.38119	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699;ENST00000304990	D;D	0.96885	-4.09;-4.16	5.73	4.81	0.61882	.	0.356519	0.24180	N	0.040801	D	0.96895	0.8986	M	0.80183	2.485	0.50039	D	0.999844	D;D;P;P	0.57257	0.979;0.979;0.944;0.954	P;P;P;P	0.52109	0.675;0.675;0.646;0.69	D	0.96731	0.9539	10	0.72032	D	0.01	.	13.3166	0.60411	0.0:0.841:0.159:0.0	.	1109;1109;1109;1109	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	1109;1109;1109;1109;1109;146	ENSP00000379823:P1109L;ENSP00000302781:P146L	ENSP00000302781:P146L	P	+	2	0	COL4A3	227866266	0.751000	0.28327	0.997000	0.53966	0.967000	0.64934	1.995000	0.40767	2.868000	0.98415	0.557000	0.71058	CCT		TCGA-IB-7651-01A-11D-2154-08	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	1	0	1	56	179	0	38	1	3.473281e-01	2	3	0	38	2		0	0	0	0	0	2	1	1	54	177	0	36	2								-4.392682	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFF	56947	broad.mit.edu	37	2	228195439	228195439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228195439C>T	ENST00000353339.3	+	4	577	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*|MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor			21					CATTAGTCAGCGAATGAGGGT	0.463000																								0							SO:0001587	stop_gained			ENST00000353339.3	0	1	hg19	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138563	0.97315	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	.	.	.	5.8	4.87	0.63330	.	0.108684	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5244	13.5124	0.61519	0.3271:0.6729:0.0:0.0	.	.	.	.	X	20;20;46;20;20;20;20;20;20;20;46;20;46	.	ENSP00000304898:R20X	R	+	1	2	MFF	227903683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.257000	0.32932	2.741000	0.93983	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	1	0	1	82	240	0	46	1	1	18	191	0	46	2		0	0	0	0	0	2	1	1	83	239	0	46	2								-5.260734	1	1	121412	2	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFF	56947	broad.mit.edu	37	2	228197205	228197205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228197205C>T	ENST00000353339.3	+	5	771	c.330C>T	c.(328-330)ccC>ccT	p.P110P	MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000476924.1_3'UTR	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor			21					CCTTTAAACCCCTGGCACTGA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000353339.3	1	1	hg19	CCDS2465.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	1	0	1	386	1235	0	323	1	1	30	323	0	323	2		0	0	0	0	0	2	1	1	381	1215	0	319	2								-7.417710	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFF	56947	broad.mit.edu	37	2	228205077	228205077	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228205077C>T	ENST00000353339.3	+	6	940	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000354503.6_Silent_p.L141L|MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000304593.9_Silent_p.L141L|MFF_ENST00000349901.7_Silent_p.L141L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor			21					AAATGGACAGCTGGTCAGAAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000353339.3	1	1	hg19	CCDS2465.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	1	0	0	47	149	0	36	1	1	22	288	0	36	2		0	0	0	0	0	2	1	1	46	146	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TM4SF20	79853	broad.mit.edu	37	2	228230946	228230946	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228230946T>G	ENST00000304568.3	-	3	301	c.264A>C	c.(262-264)tcA>tcC	p.S88S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20			10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)			CACTGAAAAGTGATGAAAGAA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000304568.3	1	1	hg19	CCDS2466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	1	0	1	73	192	0	54	1	1	147	0	0	54	2		0	0	0	0	0	2	1	1	73	190	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGFG1	3267	broad.mit.edu	37	2	228401620	228401620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228401620C>T	ENST00000310078.8	+	10	1549	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M|AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M|AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1			18					TTTAAAGCTACGCCTTCCACA	0.333000																								0							SO:0001583	missense			ENST00000310078.8	1	1	hg19	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595158	0.46318	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.24908	1.88;1.9;1.84;1.83;1.9	5.97	5.97	0.96955	.	0.264991	0.43416	D	0.000579	T	0.24084	0.0583	N	0.22421	0.69	0.38870	D	0.956668	P;P;D;D	0.54772	0.945;0.954;0.968;0.968	B;P;B;B	0.45449	0.36;0.481;0.197;0.132	T	0.01352	-1.1377	10	0.33940	T	0.23	-0.4976	18.6134	0.91294	0.0:1.0:0.0:0.0	.	390;430;454;430	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	M	454;439;430;409;390;430	ENSP00000387282:T454M;ENSP00000312059:T430M;ENSP00000387154:T409M;ENSP00000362775:T390M;ENSP00000387218:T430M	ENSP00000312059:T430M	T	+	2	0	AGFG1	228109864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.826000	0.62715	2.838000	0.97847	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	1	0	1	60	331	0	56	1	1	77	193	0	56	2		0	0	0	0	0	2	1	1	60	329	0	55	2								-20.000000	1	1	121412	3	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPHKAP	80309	broad.mit.edu	37	2	228846450	228846450	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228846450G>T	ENST00000392056.3	-	12	5132	c.5086C>A	c.(5086-5088)Ctc>Atc	p.L1696I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing			185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			AGTTCCAAGAGCCAGTCAAAG	0.438000																								0							SO:0001583	missense			ENST00000392056.3	1	1	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488035	0.84854	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14516	2.5;2.5	5.85	5.85	0.93711	A-kinase anchor 110kDa, C-terminal (1);	0.064498	0.64402	D	0.000011	T	0.37571	0.1008	M	0.64260	1.97	0.54753	D	0.999989	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.909	T	0.00945	-1.1505	10	0.48119	T	0.1	.	19.1516	0.93491	0.0:0.0:1.0:0.0	.	1696;1667	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	1696;1667	ENSP00000375909:L1696I;ENSP00000339886:L1667I	ENSP00000339886:L1667I	L	-	1	0	SPHKAP	228554694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	2.773000	0.95371	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1	64	301	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	64	295	0	66	2								-3.377722	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPHKAP	80309	broad.mit.edu	37	2	228881170	228881170	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881170T>A	ENST00000392056.3	-	7	4446	c.4400A>T	c.(4399-4401)gAt>gTt	p.D1467V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing			185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			TCTCACCACATCTGGGATGTT	0.512000																								0							SO:0001583	missense			ENST00000392056.3	1	1	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502609	0.26949	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13420	2.59;2.59	5.66	2.01	0.26516	.	0.779472	0.12553	N	0.458917	T	0.11665	0.0284	L	0.60455	1.87	0.21719	N	0.999572	B;P;B	0.47409	0.059;0.895;0.216	B;B;B	0.37943	0.013;0.261;0.049	T	0.20140	-1.0284	10	0.36615	T	0.2	.	5.2171	0.15348	0.0:0.1549:0.1519:0.6932	.	498;1467;1467	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1467	ENSP00000375909:D1467V;ENSP00000339886:D1467V	ENSP00000339886:D1467V	D	-	2	0	SPHKAP	228589414	0.633000	0.27181	0.006000	0.13384	0.007000	0.05969	1.138000	0.31491	0.403000	0.25479	-1.209000	0.01634	GAT		TCGA-IB-7651-01A-11D-2154-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1	213	575	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	210	565	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPHKAP	80309	broad.mit.edu	37	2	228881439	228881439	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881439G>A	ENST00000392056.3	-	7	4177	c.4131C>T	c.(4129-4131)acC>acT	p.T1377T	SPHKAP_ENST00000344657.5_Silent_p.T1377T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing			185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			GTTTACATTCGGTAACAGAGT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000392056.3	1	1	hg19	CCDS46537.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1	101	506	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	101	497	0	75	2								-2.567495	1	1	121412	7	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPHKAP	80309	broad.mit.edu	37	2	228881731	228881731	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881731G>A	ENST00000392056.3	-	7	3885	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing			185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			GGATGAGGACGCGCTACTGAC	0.512000																								0							SO:0001583	missense			ENST00000392056.3	1	1	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.597112	0.00857	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42900	0.96;0.96	6.08	3.98	0.46160	.	0.362355	0.31381	N	0.007752	T	0.25232	0.0613	L	0.33137	0.985	0.09310	N	0.999992	B;B;B	0.17465	0.007;0.014;0.022	B;B;B	0.11329	0.002;0.001;0.006	T	0.12319	-1.0552	10	0.15499	T	0.54	.	4.4234	0.11492	0.4415:0.0:0.5585:0.0	.	311;1280;1280	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1280	ENSP00000375909:A1280V;ENSP00000339886:A1280V	ENSP00000339886:A1280V	A	-	2	0	SPHKAP	228589975	0.002000	0.14202	0.045000	0.18777	0.002000	0.02628	1.742000	0.38248	1.503000	0.48686	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	0	37	384	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	36	376	0	75	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.810000	1.000000	1.000000	0.980225	0.990000	1	9.500000e-01	1
SPHKAP	80309	broad.mit.edu	37	2	228882946	228882946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228882946G>A	ENST00000392056.3	-	7	2670	c.2624C>T	c.(2623-2625)gCt>gTt	p.A875V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	p.A875D(2)		185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			ACTCTCCTCAGCCTCCTGGGA	0.507000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000392056.3	1	1	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	6.036	0.374956	0.11409	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.91	0.762	0.18454	.	0.872320	0.10307	N	0.690431	T	0.10208	0.0250	L	0.54323	1.7	0.09310	N	1	B;P	0.39424	0.03;0.673	B;B	0.33254	0.008;0.16	T	0.25537	-1.0129	10	0.33940	T	0.23	0.2528	2.6393	0.04966	0.1281:0.2277:0.4097:0.2346	.	875;875	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	875	ENSP00000375909:A875V;ENSP00000339886:A875V	ENSP00000339886:A875V	A	-	2	0	SPHKAP	228591190	0.003000	0.15002	0.000000	0.03702	0.054000	0.15201	1.011000	0.29911	0.105000	0.17753	-0.175000	0.13238	GCT		TCGA-IB-7651-01A-11D-2154-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1	179	878	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	1	174	858	0	165	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPHKAP	80309	broad.mit.edu	37	2	228884503	228884503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228884503G>A	ENST00000392056.3	-	7	1113	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing			185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			CACAGCACATGCAGAAGGTAC	0.433000																								0							SO:0001583	missense			ENST00000392056.3	1	1	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005323	0.02112	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.10960	2.82;2.82	5.79	2.54	0.30619	.	0.779787	0.12023	N	0.506731	T	0.05410	0.0143	N	0.16066	0.365	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.002;0.009	T	0.44922	-0.9296	10	0.15066	T	0.55	.	4.9752	0.14136	0.3529:0.1553:0.4918:0.0	.	356;356	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	356	ENSP00000375909:A356V;ENSP00000339886:A356V	ENSP00000339886:A356V	A	-	2	0	SPHKAP	228592747	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.351000	0.20096	0.755000	0.32990	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1	216	545	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	215	533	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPHKAP	80309	broad.mit.edu	37	2	228996712	228996712	+	Missense_Mutation	SNP	A	A	G	rs77015733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228996712A>G	ENST00000392056.3	-	2	168	c.122T>C	c.(121-123)aTc>aCc	p.I41T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing			185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			ACAGGCTGTGATGGAGTTCCC	0.473000																								0							SO:0001583	missense			ENST00000392056.3	1	1	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129324	0.37630	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.36340	1.26;1.26	5.63	5.63	0.86233	.	0.151419	0.44483	D	0.000459	T	0.27524	0.0676	N	0.14661	0.345	0.39407	D	0.966687	P;P	0.47762	0.839;0.9	B;P	0.44990	0.276;0.466	T	0.14062	-1.0486	10	0.59425	D	0.04	-12.1023	12.5296	0.56106	1.0:0.0:0.0:0.0	.	41;41	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	41	ENSP00000375909:I41T;ENSP00000339886:I41T	ENSP00000339886:I41T	I	-	2	0	SPHKAP	228704956	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.777000	0.62361	2.281000	0.76405	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1	56	368	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	56	361	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
DNER	92737	broad.mit.edu	37	2	230231694	230231694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230231694C>T	ENST00000341772.4	-	12	2131	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing			63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)			GTATTCAATGCGGCTGATGCG	0.542000																								0							SO:0001583	missense			ENST00000341772.4	1	1	hg19	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595384	0.96602	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86097	-2.07	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87291	0.2299	10	0.39692	T	0.17	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	666	Q8NFT8	DNER_HUMAN	H	666;384	ENSP00000345229:R666H	ENSP00000345229:R666H	R	-	2	0	DNER	229939938	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	CGC		TCGA-IB-7651-01A-11D-2154-08	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	1	0	0	21	221	0	49	0	7.787303e-01	0	32	0	49	2		0	0	0	0	0	2	1	9.999980e-01	21	220	0	49	2								-3.221883	1	1	121412	14	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.720000	1.000000	1.000000	0.964485	0.990000	1	9.000000e-01	1
TRIP12	9320	broad.mit.edu	37	2	230636293	230636293	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230636293C>A	ENST00000283943.5	-	38	5703	c.5525G>T	c.(5524-5526)aGa>aTa	p.R1842I	TRIP12_ENST00000389045.3_Missense_Mutation_p.R1572I|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12			87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)			AAATCCATCTCTGAACGAATC	0.368000																								0							SO:0001583	missense			ENST00000283943.5	1	1	hg19	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292648	0.95546	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.8;0.8;0.8	5.85	5.85	0.93711	HECT (4);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	L	0.41961	1.31	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.64715	-0.6342	10	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1572;1890;1842	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	1842;1572;1890	ENSP00000283943:R1842I;ENSP00000373697:R1572I;ENSP00000373696:R1890I	ENSP00000283943:R1842I	R	-	2	0	TRIP12	230344537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.767000	0.95098	0.563000	0.77884	AGA		TCGA-IB-7651-01A-11D-2154-08	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	1	0	1	59	254	0	71	1	1	88	353	0	71	2		0	0	0	0	0	2	1	1	55	247	0	71	2								-2.977471	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIP12	9320	broad.mit.edu	37	2	230667001	230667001	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230667001C>A	ENST00000283943.5	-	20	3126	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	TRIP12_ENST00000389045.3_Missense_Mutation_p.S713I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12			87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)			ATCATCCCTGCTGTGCTGCAA	0.488000																								0							SO:0001583	missense			ENST00000283943.5	1	1	hg19	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311983	0.81358	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.48836	0.81;1.19;0.8	5.42	5.42	0.78866	.	0.041280	0.85682	D	0.000000	T	0.32793	0.0841	N	0.22421	0.69	0.80722	D	1	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.28784	0.094;0.094;0.094	T	0.15093	-1.0449	10	0.37606	T	0.19	.	17.379	0.87399	0.0:1.0:0.0:0.0	.	713;1031;983	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	983;713;1031	ENSP00000283943:S983I;ENSP00000373697:S713I;ENSP00000373696:S1031I	ENSP00000283943:S983I	S	-	2	0	TRIP12	230375245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.410000	0.66381	2.521000	0.84997	0.585000	0.79938	AGC		TCGA-IB-7651-01A-11D-2154-08	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	1	0	1	84	207	0	52	1	1	79	132	0	52	2		0	0	0	0	0	2	1	1	84	202	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO36	130888	broad.mit.edu	37	2	230875544	230875544	+	Missense_Mutation	SNP	C	C	T	rs139190280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230875544C>T	ENST00000283946.3	+	4	529	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	FBXO36_ENST00000373652.3_Missense_Mutation_p.R140W|FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36			7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)			CCAGCTCCAGCGGCAGCTCCG	0.552000																								0							SO:0001583	missense			ENST00000283946.3	1	1	hg19	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644135	0.67244	0.0	2.33E-4	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T;T	0.22743	1.94;1.94;1.94	4.86	3.95	0.45737	F-box domain, Skp2-like (1);	0.622148	0.14637	N	0.307472	T	0.22085	0.0532	L	0.56769	1.78	0.34736	D	0.730262	D;D	0.69078	0.997;0.994	P;P	0.44477	0.451;0.451	T	0.31861	-0.9928	10	0.40728	T	0.16	-6.2447	6.8825	0.24181	0.1827:0.7261:0.0:0.0912	.	140;171	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	W	140;171;151	ENSP00000362756:R140W;ENSP00000283946:R171W;ENSP00000386673:R151W	ENSP00000283946:R171W	R	+	1	2	FBXO36	230583788	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.779000	0.26746	0.964000	0.38108	0.511000	0.50034	CGG		TCGA-IB-7651-01A-11D-2154-08	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	1	0	0	15	149	0	41	1	5.183075e-01	5	13	0	41	2		0	0	0	0	0	2	1	9.998923e-01	15	148	0	41	2								-19.971870	1	1	121410	1	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.700000	1.000000	1.000000	0.966858	0.990000	1	9.200000e-01	1
SLC16A14	151473	broad.mit.edu	37	2	230911293	230911293	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230911293G>A	ENST00000295190.4	-	4	1007	c.549C>T	c.(547-549)tgC>tgT	p.C183C		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14			28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)			CGTACTCTGCGCACAGGTACT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000295190.4	1	1	hg19	CCDS2473.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	1	0	1	103	522	0	127	0	1.952204e-01	0	5	0	127	2		0	0	0	0	0	2	1	1	104	517	0	126	2								-3.324735	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP110	3431	broad.mit.edu	37	2	231077540	231077540	+	Silent	SNP	C	C	T	rs114550400	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231077540C>T	ENST00000358662.4	-	4	597	c.519G>A	c.(517-519)tcG>tcA	p.S173S	SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000258381.6_Silent_p.S173S|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein			29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)			ATGGGCTGGGCGACTCACTCA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000358662.4	1	1	hg19	CCDS2474.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	0	0	1	147	781	0	159	1	1	42	178	0	159	2		0	0	0	0	0	2	1	1	137	759	0	158	2								-3.319069	1	1	121412	20	48	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP140	11262	broad.mit.edu	37	2	231174738	231174738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231174738C>T	ENST00000392045.3	+	23	2272	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	SP140_ENST00000343805.6_Missense_Mutation_p.P660S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000420434.3_Missense_Mutation_p.P693S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein			12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)			TCACATCCCGCCTGTGGAAGC	0.547000																								0							SO:0001583	missense			ENST00000392045.3	1	1	hg19	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	9.802	1.180769	0.21787	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	2.91	0.963	0.19649	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	D	0.86990	0.6066	L	0.52126	1.63	0.09310	N	1	D;D;D;P	0.89917	1.0;0.993;0.996;0.757	D;D;D;P	0.83275	0.996;0.968;0.986;0.457	T	0.73871	-0.3846	9	0.44086	T	0.13	-1.6218	4.0335	0.09719	0.0:0.6115:0.2464:0.1421	.	693;606;660;720	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	644;589;720;606;660;693	ENSP00000440107:P644S;ENSP00000345846:P589S;ENSP00000375899:P720S;ENSP00000342096:P660S;ENSP00000398210:P693S	ENSP00000342096:P660S	P	+	1	0	SP140	230882982	0.000000	0.05858	0.070000	0.20053	0.074000	0.17049	0.115000	0.15540	0.255000	0.21593	0.456000	0.33151	CCT		TCGA-IB-7651-01A-11D-2154-08	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	1	0	0	33	378	0	58	0	2.598562e-01	0	12	0	58	2		0	0	0	0	0	2	1	1	32	365	0	57	2								-9.998329	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.720000	1.000000	1.000000	0.952948	0.990000	1	8.600000e-01	1
SP140L	93349	broad.mit.edu	37	2	231235641	231235641	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231235641C>T	ENST00000415673.2	+	6	628	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SP140L_ENST00000243810.6_Missense_Mutation_p.P181L|SP140L_ENST00000396563.4_Missense_Mutation_p.P181L|SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000444636.1_Missense_Mutation_p.P181L	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like			20					CCAGAAAGCCCGGAAGCAAGG	0.532000																								0							SO:0001583	missense			ENST00000415673.2	1	1	hg19	CCDS46538.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.96	1.498004	0.26861	2.53E-4	4.81E-4	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.83914	-1.58;-1.22;-1.58;-1.78;0.79	2.26	-2.5	0.06384	.	.	.	.	.	T	0.66655	0.2811	L	0.40543	1.245	0.09310	N	1	B;B	0.26809	0.017;0.16	B;B	0.22753	0.006;0.041	T	0.52396	-0.8581	9	0.07325	T	0.83	.	4.1643	0.10300	0.2946:0.5149:0.0:0.1905	.	94;181	Q9H930-3;Q9H930-4	.;.	L	181;181;181;181;94	ENSP00000395195:P181L;ENSP00000397911:P181L;ENSP00000243810:P181L;ENSP00000379811:P181L;ENSP00000395223:P94L	ENSP00000243810:P181L	P	+	2	0	SP140L	230943885	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.520000	0.02241	-0.549000	0.06191	0.313000	0.20887	CCG		TCGA-IB-7651-01A-11D-2154-08	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	1	25	114	0	29	1	1	22	144	0	29	2		0	0	0	0	0	2	1	9.999999e-01	24	111	0	29	2								-3.229561	1	1	120930	38	46	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SP140L	93349	broad.mit.edu	37	2	231256917	231256917	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231256917C>T	ENST00000415673.2	+	12	1166	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	SP140L_ENST00000243810.6_Silent_p.G360G|SP140L_ENST00000396563.4_Silent_p.G325G|SP140L_ENST00000444636.1_Silent_p.G360G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like			20					TGCGCTGTGGCGGGTGGCCCC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000415673.2	1	0	hg19	CCDS46538.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	1	87	327	0	75	1	9.999972e-01	37	35	0	75	2		0	0	0	0	0	2	1	1	84	284	0	62	2								-1.806322	0	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP140L	93349	broad.mit.edu	37	2	231264881	231264881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264881G>A	ENST00000415673.2	+	15	1323	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	SP140L_ENST00000243810.6_Missense_Mutation_p.G413R|SP140L_ENST00000396563.4_Missense_Mutation_p.G378R|SP140L_ENST00000444636.1_Missense_Mutation_p.G413R	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	p.G413W(2)		20					CCGGGACGGAGGGGAGCTGTT	0.522000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000415673.2	1	1	hg19	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848324	0.51164	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	3.5	2.61	0.31194	.	.	.	.	.	D	0.94611	0.8263	M	0.93062	3.375	0.09310	N	1	D;D	0.89917	1.0;0.994	D;D	0.80764	0.994;0.962	D	0.85800	0.1373	9	0.87932	D	0	.	6.6587	0.23002	0.1347:0.0:0.8653:0.0	.	378;413	Q9H930-2;Q9H930-4	.;.	R	413;413;413;378	ENSP00000395195:G413R;ENSP00000397911:G413R;ENSP00000243810:G413R;ENSP00000379811:G378R	ENSP00000243810:G413R	G	+	1	0	SP140L	230973125	0.965000	0.33210	0.012000	0.15200	0.175000	0.22909	2.883000	0.48554	0.806000	0.34183	0.491000	0.48974	GGG		TCGA-IB-7651-01A-11D-2154-08	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	1	104	405	0	107	1	9.999992e-01	46	34	0	107	2		0	0	0	0	0	2	1	1	102	400	0	106	2								-3.291654	1	0	121082	1	31	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP140L	93349	broad.mit.edu	37	2	231264950	231264950	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264950A>G	ENST00000415673.2	+	15	1392	c.1306A>G	c.(1306-1308)Agt>Ggt	p.S436G	SP140L_ENST00000243810.6_Missense_Mutation_p.S436G|SP140L_ENST00000396563.4_Missense_Mutation_p.S401G|SP140L_ENST00000444636.1_Missense_Mutation_p.S436G	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like			20					ACCTGTGGAAAGTGAGAAGTA	0.527000																								0							SO:0001583	missense			ENST00000415673.2	1	1	hg19	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	a	8.272	0.813488	0.16537	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.85339	-1.64;-1.97;-1.64;-1.76	2.8	-4.25	0.03766	.	.	.	.	.	T	0.76976	0.4063	L	0.46819	1.47	0.09310	N	1	B;B	0.19331	0.035;0.03	B;B	0.23716	0.048;0.043	T	0.64411	-0.6414	9	0.66056	D	0.02	.	5.9102	0.19025	0.1977:0.0:0.6305:0.1718	.	401;436	Q9H930-2;Q9H930-4	.;.	G	436;436;436;401	ENSP00000395195:S436G;ENSP00000397911:S436G;ENSP00000243810:S436G;ENSP00000379811:S401G	ENSP00000243810:S436G	S	+	1	0	SP140L	230973194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.530000	0.02221	-0.912000	0.03837	-2.382000	0.00231	AGT		TCGA-IB-7651-01A-11D-2154-08	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	1	0	0	57	242	0	66	1	9.999737e-01	11	58	0	66	2		0	0	0	0	0	2	1	9.999999e-01	55	239	1	65	16								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP100	6672	broad.mit.edu	37	2	231308927	231308927	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231308927T>C	ENST00000264052.5	+	4	660	c.305T>C	c.(304-306)gTa>gCa	p.V102A	SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000409897.1_Missense_Mutation_p.V67A|SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000341950.4_Missense_Mutation_p.V102A	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen			25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)			CTGGTCCCTGTACAGAGAGTG	0.398000																								0							SO:0001583	missense			ENST00000264052.5	1	1	hg19	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729837	0.30684	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	3.89	3.89	0.44902	Sp100 (2);	.	.	.	.	D	0.97059	0.9039	M	0.79123	2.44	0.09310	N	0.999999	D;D;D;D;D;D;P;D	0.76494	0.993;0.996;0.995;0.993;0.999;0.979;0.955;0.998	P;D;D;P;D;P;P;D	0.72625	0.907;0.932;0.944;0.775;0.978;0.779;0.858;0.948	D	0.91134	0.4940	9	0.87932	D	0	.	9.3921	0.38378	0.0:0.0:0.0:1.0	.	77;102;67;102;102;102;77;102	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	A	102;77;77;77;102;102;102;102;67	ENSP00000264052:V102A;ENSP00000399389:V77A;ENSP00000391616:V77A;ENSP00000387311:V77A;ENSP00000386404:V102A;ENSP00000386427:V102A;ENSP00000343023:V102A;ENSP00000342729:V102A;ENSP00000386998:V67A	ENSP00000264052:V102A	V	+	2	0	SP100	231017171	0.896000	0.30565	0.350000	0.25708	0.016000	0.09150	2.865000	0.48412	1.997000	0.58415	0.455000	0.32223	GTA		TCGA-IB-7651-01A-11D-2154-08	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	0	0	1	100	476	1	99	1	1	31	292	1	99	13		0	0	0	0	0	2	1	1	100	470	1	99	19								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP100	6672	broad.mit.edu	37	2	231379934	231379934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231379934C>T	ENST00000264052.5	+	25	2574	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen			25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)			ATGGCAAAGGCGGACAAGGCC	0.408000																								0							SO:0001583	missense			ENST00000264052.5	1	1	hg19	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466350	0.26335	.	.	ENSG00000067066	ENST00000264052	T	0.15139	2.45	0.158	0.158	0.14942	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.14270	0.0345	L	0.54908	1.71	0.80722	D	1	B	0.23377	0.084	B	0.13407	0.009	T	0.06899	-1.0801	9	0.59425	D	0.04	.	6.0348	0.19702	0.0:0.9995:0.0:5.0E-4	.	740	P23497	SP100_HUMAN	V	740	ENSP00000264052:A740V	ENSP00000264052:A740V	A	+	2	0	SP100	231088178	0.770000	0.28543	0.015000	0.15790	0.015000	0.08874	0.844000	0.27654	0.202000	0.20498	0.205000	0.17691	GCG		TCGA-IB-7651-01A-11D-2154-08	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	1	0	0	82	432	0	86	0	8.677038e-01	1	20	0	86	2		0	0	0	0	0	2	1	1	79	424	0	86	2								-20.000000	1	1	121404	2	33	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP100	6672	broad.mit.edu	37	2	231406637	231406637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231406637C>T	ENST00000340126.4	+	28	2465	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen			25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)			CCCACAGAAGCCCATGTGGTT	0.458000																								0							SO:0001583	missense			ENST00000340126.4	1	1	hg19	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.06|14.06	2.421720|2.421720	0.43020|0.43020	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|D	.|0.82255	.|-1.59	4.13|4.13	-1.34|-1.34	0.09143|0.09143	.|.	.|.	.|.	.|.	.|.	T|T	0.79828|0.79828	0.4513|0.4513	M|M	0.74389|0.74389	2.26|2.26	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.20550	.|0.021;0.046	.|B;B	.|0.21360	.|0.012;0.034	T|T	0.69702|0.69702	-0.5074|-0.5074	5|9	.|0.62326	.|D	.|0.03	.|.	7.852|7.852	0.29459|0.29459	0.0:0.393:0.0:0.607|0.0:0.393:0.0:0.607	.|.	.|282;812	.|E9PHN1;P23497-4	.|.;.	V|S	185|812;282	.|ENSP00000343023:P812S	.|ENSP00000343023:P812S	A|P	+|+	2|1	0|0	SP100|SP100	231114881|231114881	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.073000|0.073000	0.16967|0.16967	0.029000|0.029000	0.13666|0.13666	-0.279000|-0.279000	0.09167|0.09167	-0.136000|-0.136000	0.14681|0.14681	GCC|CCC		TCGA-IB-7651-01A-11D-2154-08	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	1	0	1	55	250	0	65	1	9.999999e-01	47	63	0	65	2		0	0	0	0	0	2	1	1	54	247	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAB39	51719	broad.mit.edu	37	2	231657983	231657983	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231657983C>T	ENST00000258418.5	+	4	764	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CAB39_ENST00000409788.3_Missense_Mutation_p.T112M|CAB39_ENST00000410084.3_Missense_Mutation_p.T112M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39			3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)			CAAATTGGTACGAGAACTCCT	0.328000																								0							SO:0001583	missense			ENST00000258418.5	1	1	hg19	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895363	0.91962	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.30714	1.52;1.52;1.52	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88105	2.93	0.80722	D	1	D	0.63880	0.993	P	0.53450	0.726	T	0.63866	-0.6540	10	0.72032	D	0.01	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	112	Q9Y376	CAB39_HUMAN	M	112	ENSP00000258418:T112M;ENSP00000386238:T112M;ENSP00000386642:T112M	ENSP00000258418:T112M	T	+	2	0	CAB39	231366227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.873000	0.98535	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	1	0	0	28	340	0	109	1	9.999994e-01	26	257	0	109	2		0	0	0	0	0	2	1	1	28	333	0	108	2								-3.221882	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.980000	0.660000	1.000000	1.000000	0.927967	0.980000	1	8.100000e-01	1
GPR55	9290	broad.mit.edu	37	2	231775371	231775371	+	Missense_Mutation	SNP	C	C	T	rs80290067	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231775371C>T	ENST00000392040.1	-	2	499	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Missense_Mutation_p.V103I	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55			23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)			TACATGCTGACGAAGTAAAGG	0.597000																								0							SO:0001583	missense			ENST00000392040.1	1	0	hg19	CCDS2480.1	53	0.024267399267399268	49	0.09959349593495935	4	0.011049723756906077	0	0.0	0	0.0	c	0.687	-0.795929	0.02862	0.096005	5.81E-4	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.72835	-0.69;-0.69;-0.69	5.38	-5.31	0.02730	GPCR, rhodopsin-like superfamily (1);	0.408961	0.25774	N	0.028383	T	0.01254	0.0041	N	0.12569	0.235	0.24899	N	0.992118	B	0.17465	0.022	B	0.15870	0.014	T	0.13442	-1.0509	10	0.02654	T	1	-33.6109	12.2542	0.54615	0.0:0.5177:0.0:0.4823	.	103	Q9Y2T6	GPR55_HUMAN	I	103	ENSP00000375894:V103I;ENSP00000375893:V103I;ENSP00000412768:V103I	ENSP00000375893:V103I	V	-	1	0	GPR55	231483615	0.000000	0.05858	0.728000	0.30774	0.241000	0.25554	-0.686000	0.05161	-0.943000	0.03691	-1.598000	0.00824	GTC		TCGA-IB-7651-01A-11D-2154-08	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	1	0	1	50	216	0	48	0	3.678633e-02	0	2	0	48	2		0	0	0	0	0	2	1	1	50	210	0	48	2								-2.294371	0	1	121410	1068	60	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD1	5707	broad.mit.edu	37	2	231927223	231927223	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927223G>A	ENST00000308696.6	+	4	300	c.138G>A	c.(136-138)gaG>gaA	p.E46E	PSMD1_ENST00000373635.4_Silent_p.E46E|PSMD1_ENST00000409643.1_Silent_p.E46E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1			31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Bortezomib(DB00188)	CTTTCAGAGAGGTTTTATACG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000308696.6	1	1	hg19	CCDS2482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	1	0	1	75	422	0	75	1	1	38	146	0	75	2		0	0	0	0	0	2	1	1	73	415	0	74	2								-3.143883	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD1	5707	broad.mit.edu	37	2	231927275	231927275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927275G>A	ENST00000308696.6	+	4	352	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T|PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1			31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Bortezomib(DB00188)	AGCCTTAGTGGCATCTAAAGT	0.418000																								0							SO:0001583	missense			ENST00000308696.6	1	1	hg19	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640935	0.96693	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.32515	1.45;1.45;1.45	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.78637	2.42	0.80722	D	1	P;D	0.58268	0.691;0.982	B;P	0.47470	0.259;0.548	T	0.45249	-0.9274	10	0.48119	T	0.1	-5.3206	20.6634	0.99662	0.0:0.0:1.0:0.0	.	64;64	Q99460;Q99460-2	PSMD1_HUMAN;.	T	64	ENSP00000309474:A64T;ENSP00000362738:A64T;ENSP00000386932:A64T	ENSP00000309474:A64T	A	+	1	0	PSMD1	231635519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	1	0	1	146	438	0	82	1	1	81	157	0	82	2		0	0	0	0	0	2	1	1	145	434	0	81	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR2B	3357	broad.mit.edu	37	2	231974067	231974067	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231974067T>G	ENST00000258400.3	-	4	1122	c.610A>C	c.(610-612)Aat>Cat	p.N204H	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled			11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	CAAGTGATATTGTTTGGGTTG	0.418000													Ovarian(155;1331 1891 12853 14038 34991)											0							SO:0001583	missense			ENST00000258400.3	1	1	hg19	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257398	0.80246	.	.	ENSG00000135914	ENST00000258400	T	0.32988	1.43	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.080696	0.85682	D	0.000000	T	0.51381	0.1671	L	0.53729	1.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.98;0.986	T	0.48725	-0.9010	10	0.49607	T	0.09	.	16.0174	0.80450	0.0:0.0:0.0:1.0	.	19;204	B3VRC5;P41595	.;5HT2B_HUMAN	H	204	ENSP00000258400:N204H	ENSP00000258400:N204H	N	-	1	0	HTR2B	231682311	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.484000	0.81180	2.186000	0.69663	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	1	0	1	102	284	0	82	1	1	36	55	0	82	2		0	0	0	0	0	2	1	1	101	274	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD1	5707	broad.mit.edu	37	2	232011056	232011056	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232011056A>C	ENST00000308696.6	+	18	2263	c.2101A>C	c.(2101-2103)Atc>Ctc	p.I701L	PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L|PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1			31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Bortezomib(DB00188)	GCAGACTGAAATCACTTGTCC	0.423000																								0							SO:0001583	missense			ENST00000308696.6	1	1	hg19	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955218	0.53293	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.054170	0.85682	D	0.000000	T	0.18257	0.0438	N	0.08118	0	0.52501	D	0.999955	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.04053	-1.0981	10	0.48119	T	0.1	-12.4273	14.2797	0.66202	1.0:0.0:0.0:0.0	.	701;701	Q99460;Q99460-2	PSMD1_HUMAN;.	L	701	ENSP00000309474:I701L;ENSP00000362738:I701L;ENSP00000386932:I701L	ENSP00000309474:I701L	I	+	1	0	PSMD1	231719300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.706000	0.54830	2.073000	0.62155	0.454000	0.30748	ATC		TCGA-IB-7651-01A-11D-2154-08	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	1	0	1	133	429	0	96	1	1	93	210	0	96	2		0	0	0	0	0	2	1	1	130	422	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMD1	5707	broad.mit.edu	37	2	232030716	232030716	+	Silent	SNP	C	C	T	rs149102064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232030716C>T	ENST00000308696.6	+	23	2862	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	PSMD1_ENST00000373635.4_Silent_p.Y869Y|PSMD1_ENST00000409643.1_Silent_p.Y869Y	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1			31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Bortezomib(DB00188)	CCTGTAGATACCAGCCTTTCA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000308696.6	1	1	hg19	CCDS2482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	0	0	0	37	447	1	92	1	9.996872e-01	82	636	1	92	24		0	0	0	0	0	2	1	9.967837e-01	37	438	1	91	18								-16.502390	1	1	121412	27	46	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.980000	0.700000	1.000000	1.000000	0.935808	0.980000	1	8.300000e-01	1
ARMC9	80210	broad.mit.edu	37	2	232104717	232104717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232104717G>A	ENST00000349938.4	+	9	1036	c.842G>A	c.(841-843)aGc>aAc	p.S281N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9			22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)			ATGCGGCAGAGCCTGGCGCAT	0.557000																								0							SO:0001583	missense			ENST00000349938.4	0	1	hg19	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338376	0.60963	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T	0.19806	2.12	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.45581	1.43	0.47862	D	0.999537	P	0.49090	0.919	P	0.48704	0.587	T	0.01238	-1.1409	10	0.25106	T	0.35	-6.727	13.8461	0.63468	0.0:0.1525:0.8475:0.0	.	281	Q7Z3E5	ARMC9_HUMAN	N	281;281;35	ENSP00000258417:S281N	ENSP00000258417:S281N	S	+	2	0	ARMC9	231812961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.563000	0.60823	2.309000	0.77851	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	0	0	0	5	141	0	28	1	8.283594e-01	2	91	0	28	2		0	0	0	0	0	2	1	9.386392e-01	5	141	0	26	2								-7.662131	1	1	121410	13	40	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.490000	0.180000	1.000000	0.430000	0.543657	0.490000	0	3.100000e-01	8.000000e-01
B3GNT7	93010	broad.mit.edu	37	2	232263043	232263043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232263043C>T	ENST00000287590.5	+	2	874	c.613C>T	c.(613-615)Cag>Tag	p.Q205*		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7			17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)			CGACATCCTGCAGTGGGGCTT	0.602000																								0							SO:0001587	stop_gained			ENST00000287590.5	0	1	hg19	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	38	6.822400	0.97865	.	.	ENSG00000156966	ENST00000287590	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	17.7321	0.88380	0.0:1.0:0.0:0.0	.	.	.	.	X	205	.	ENSP00000287590:Q205X	Q	+	1	0	B3GNT7	231971287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.431000	0.82371	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	1	0	0	186	459	0	122	1	1	44	30	0	122	2		0	0	0	0	0	2	1	1	180	449	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NMUR1	10316	broad.mit.edu	37	2	232392906	232392906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232392906C>A	ENST00000305141.4	-	2	959	c.826G>T	c.(826-828)Gca>Tca	p.A276S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1			24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)			GACCTGGCTGCTGCAGAGCCC	0.637000																								0							SO:0001583	missense			ENST00000305141.4	1	1	hg19	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	C	1.751	-0.489353	0.04352	.	.	ENSG00000171596	ENST00000305141	T	0.34859	1.34	2.43	-2.21	0.06973	GPCR, rhodopsin-like superfamily (1);	485.990000	0.01751	U	0.029957	T	0.19927	0.0479	N	0.25992	0.78	0.09310	N	1	B	0.31949	0.348	B	0.27380	0.079	T	0.05632	-1.0873	10	0.09084	T	0.74	.	3.722	0.08460	0.0:0.2798:0.4085:0.3117	.	276	Q9HB89	NMUR1_HUMAN	S	276	ENSP00000305877:A276S	ENSP00000305877:A276S	A	-	1	0	NMUR1	232101150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.635000	0.24629	-0.320000	0.08640	-0.390000	0.06520	GCA		TCGA-IB-7651-01A-11D-2154-08	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	1	0	0	12	256	0	34	0	4.343595e-02	0	7	0	34	2		0	0	0	0	0	2	1	9.991561e-01	12	255	0	34	2								-13.948290	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.600000	0.320000	1.000000	0.550000	0.635874	0.600000	0	4.400000e-01	8.400000e-01
C2orf57	165100	broad.mit.edu	37	2	232458282	232458282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232458282C>A	ENST00000313965.2	+	1	708	c.620C>A	c.(619-621)gCt>gAt	p.A207D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57			19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)			CACCCTGAAGCTGAAGCTTTA	0.577000																								0							SO:0001583	missense			ENST00000313965.2	1	1	hg19	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	c	13.26	2.185264	0.38609	.	.	ENSG00000177673	ENST00000313965	T	0.20069	2.1	3.96	-1.64	0.08318	.	2.133630	0.02561	N	0.096744	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	P	0.38020	0.615	B	0.34779	0.189	T	0.07046	-1.0793	10	0.62326	D	0.03	.	0.3447	0.00339	0.2795:0.2725:0.2342:0.2138	.	207	Q53QW1	CB057_HUMAN	D	207	ENSP00000315557:A207D	ENSP00000315557:A207D	A	+	2	0	C2orf57	232166526	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.142000	0.16096	-0.509000	0.06532	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	1	0	1	186	392	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1	182	384	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPP	250	broad.mit.edu	37	2	233244473	233244473	+	Splice_Site	SNP	G	G	T	rs1130343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244473G>T	ENST00000392027.2	+	5	753		c.e5-1		AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental			22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			GACACCCTTAGGGAAGTCAGT	0.617000																								0							SO:0001630	splice_region_variant			ENST00000392027.2	1	1	hg19	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017697	0.19355	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPP	232952717	1.000000	0.71417	0.871000	0.34182	0.139000	0.21198	5.970000	0.70431	1.289000	0.44618	0.298000	0.19748	.		TCGA-IB-7651-01A-11D-2154-08	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	1	0	1	58	175	0	46	1	1.586318e-01	2	1	0	46	2		0	0	0	0	0	2	1	1	58	173	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPP	250	broad.mit.edu	37	2	233244614	233244614	+	Missense_Mutation	SNP	G	G	A	rs138033708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244614G>A	ENST00000392027.2	+	5	894	c.625G>A	c.(625-627)Gct>Act	p.A209T	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental			22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			CCAGGACATCGCTACGCAGCT	0.682000																								0							SO:0001583	missense			ENST00000392027.2	1	1	hg19	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449547	0.43531	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.31	1.36	0.22044	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.88842	2.985	0.53005	D	0.999963	D	0.89917	1.0	D	0.70016	0.967	D	0.96819	0.9602	10	0.66056	D	0.02	.	9.4929	0.38971	0.0:0.0:0.6243:0.3757	.	209	P05187	PPB1_HUMAN	T	209	ENSP00000375881:A209T	ENSP00000375881:A209T	A	+	1	0	ALPP	232952858	0.743000	0.28239	0.326000	0.25389	0.024000	0.10985	0.952000	0.29149	0.266000	0.21894	0.298000	0.19748	GCT		TCGA-IB-7651-01A-11D-2154-08	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	1	0	0	23	483	0	101	0	0	0	1	0	101	2		0	0	0	0	0	2	1	9.999993e-01	23	477	0	98	2								-3.211232	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.590000	0.380000	1.000000	0.580000	0.629894	0.590000	0	4.700000e-01	7.700000e-01
ALPPL2	251	broad.mit.edu	37	2	233274394	233274394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274394G>A	ENST00000295453.3	+	11	1463	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2			13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Amifostine(DB01143)	GGTTCACGGCGTGCAGGAGCA	0.721000																								0							SO:0001583	missense			ENST00000295453.3	0	1	hg19	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937348	0.52972	.	.	ENSG00000163286	ENST00000295453	D	0.96334	-3.98	2.54	2.54	0.30619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	M	0.88241	2.94	0.54753	D	0.999984	D	0.89917	1.0	D	0.77004	0.989	D	0.98374	1.0555	10	0.87932	D	0	.	12.4169	0.55498	0.0:0.0:1.0:0.0	.	471	P10696	PPBN_HUMAN	M	471	ENSP00000295453:V471M	ENSP00000295453:V471M	V	+	1	0	ALPPL2	232982638	1.000000	0.71417	0.996000	0.52242	0.269000	0.26545	6.982000	0.76173	1.410000	0.46936	0.205000	0.17691	GTG		TCGA-IB-7651-01A-11D-2154-08	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	0	0	0	33	124	0	20	0	4.677673e-02	1	1	0	20	2		0	0	0	0	0	2	1	1	25	108	0	24	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPPL2	251	broad.mit.edu	37	2	233274417	233274417	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274417G>A	ENST00000295453.3	+	11	1486	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2			13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Amifostine(DB01143)	CCTTCATAGCGCACGTCATGG	0.751000																								0							SO:0001819	synonymous_variant			ENST00000295453.3	0	1	hg19	CCDS2491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	1	0	0	44	135	0	24	0	0	1	0	0	24	2		0	0	0	0	0	2	1	1	35	123	0	28	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274433G>A	ENST00000295453.3	+	11	1502	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2			13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Amifostine(DB01143)	CATGGCCTTCGCCGCCTGCCT	0.751000																								0							SO:0001583	missense			ENST00000295453.3	0	1	hg19	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873294	0.51695	.	.	ENSG00000163286	ENST00000295453	D	0.97455	-4.39	2.54	1.59	0.23543	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	H	0.95745	3.715	0.47949	D	0.999555	D	0.89917	1.0	D	0.91635	0.999	D	0.98316	1.0526	10	0.87932	D	0	.	10.0883	0.42432	0.0:0.2075:0.7925:0.0	.	484	P10696	PPBN_HUMAN	T	484	ENSP00000295453:A484T	ENSP00000295453:A484T	A	+	1	0	ALPPL2	232982677	1.000000	0.71417	0.802000	0.32245	0.032000	0.12392	7.116000	0.77119	0.345000	0.23873	0.205000	0.17691	GCC		TCGA-IB-7651-01A-11D-2154-08	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	1	0	0	46	118	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	1	39	113	0	23	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPI	248	broad.mit.edu	37	2	233321075	233321075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321075G>A	ENST00000295463.3	+	2	161	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal			24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			AGGAGAACCCGGCCTTCTGGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000295463.3	1	1	hg19	CCDS2492.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	1	0	1	65	344	0	89	0	2.611438e-02	1	1	0	89	2		0	0	0	0	0	2	1	1	63	341	0	86	2								-20.000000	1	1	121412	3	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPI	248	broad.mit.edu	37	2	233321314	233321314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321314C>T	ENST00000295463.3	+	3	286	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal			24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			ACGGTGACAGCCACCAGGATC	0.627000																								0							SO:0001583	missense			ENST00000295463.3	1	1	hg19	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111299	0.77210	.	.	ENSG00000163295	ENST00000295463	D	0.97772	-4.53	5.7	5.7	0.88788	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.108147	0.64402	D	0.000007	D	0.99184	0.9717	H	0.95745	3.715	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	.	18.8019	0.92022	0.0:1.0:0.0:0.0	.	70	P09923	PPBI_HUMAN	V	70	ENSP00000295463:A70V	ENSP00000295463:A70V	A	+	2	0	ALPI	233029558	1.000000	0.71417	0.758000	0.31321	0.178000	0.23041	7.441000	0.80485	2.861000	0.98227	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	1	0	1	26	145	0	28	0	1.195211e-01	0	4	0	28	2		0	0	0	0	0	2	1	1	26	143	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
ALPI	248	broad.mit.edu	37	2	233321938	233321938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321938G>A	ENST00000295463.3	+	5	631	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal			24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			ACAGTGAACCGCAACTGGTAC	0.607000																								0							SO:0001583	missense			ENST00000295463.3	1	1	hg19	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013703	0.93404	.	.	ENSG00000163295	ENST00000295463	D	0.98876	-5.2	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99884	4.89	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	D	0.97130	0.9817	10	0.87932	D	0	.	18.7561	0.91833	0.0:0.0:1.0:0.0	.	185	P09923	PPBI_HUMAN	H	185	ENSP00000295463:R185H	ENSP00000295463:R185H	R	+	2	0	ALPI	233030182	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.552000	0.82192	2.757000	0.94681	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	1	0	1	101	513	0	126	0	2.609486e-01	1	5	0	126	2		0	0	0	0	0	2	1	1	100	499	0	125	2								-3.081704	1	1	121412	6	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECEL1	9427	broad.mit.edu	37	2	233346332	233346332	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346332A>G	ENST00000304546.1	-	14	2083	c.1873T>C	c.(1873-1875)Tat>Cat	p.Y625H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1			23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			GAGCGGTCATACTGGCCCCCT	0.647000																								0							SO:0001583	missense			ENST00000304546.1	1	1	hg19	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992763	0.74703	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.84070	-1.8;-1.8;-1.8	5.48	4.29	0.51040	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.061993	0.64402	D	0.000002	D	0.92355	0.7574	M	0.92317	3.295	0.53688	D	0.999975	D;D	0.76494	0.999;0.999	D;D	0.75020	0.931;0.985	D	0.93309	0.6683	10	0.87932	D	0	0.4595	12.7306	0.57195	0.8626:0.1374:0.0:0.0	.	623;625	O95672-2;O95672	.;ECEL1_HUMAN	H	40;625;623	ENSP00000412683:Y40H;ENSP00000302051:Y625H;ENSP00000386333:Y623H	ENSP00000302051:Y625H	Y	-	1	0	ECEL1	233054576	1.000000	0.71417	0.904000	0.35570	0.965000	0.64279	7.440000	0.80464	0.988000	0.38734	0.456000	0.33151	TAT		TCGA-IB-7651-01A-11D-2154-08	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	0	0	0	52	228	1	36	0	6.771224e-01	0	18	1	36	3		0	0	0	0	0	2	1	9.998694e-01	51	223	1	35	23								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECEL1	9427	broad.mit.edu	37	2	233346501	233346501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346501C>T	ENST00000304546.1	-	13	2065	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1			23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			CCCCAGTCGTCGTAGCCGTGG	0.667000																								0							SO:0001583	missense			ENST00000304546.1	1	1	hg19	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304761	0.95601	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.89939	-2.59;-2.59;-2.59	5.54	5.54	0.83059	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.049237	0.85682	D	0.000000	D	0.97216	0.9090	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.98643	1.0676	10	0.87932	D	0	-5.4806	19.5428	0.95281	0.0:1.0:0.0:0.0	.	617;619	O95672-2;O95672	.;ECEL1_HUMAN	N	34;619;617	ENSP00000412683:D34N;ENSP00000302051:D619N;ENSP00000386333:D617N	ENSP00000302051:D619N	D	-	1	0	ECEL1	233054745	1.000000	0.71417	0.921000	0.36526	0.925000	0.55904	7.704000	0.84595	2.615000	0.88500	0.558000	0.71614	GAC		TCGA-IB-7651-01A-11D-2154-08	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	1	0	1	130	423	0	86	1	9.717518e-01	4	17	0	86	2		0	0	0	0	0	2	1	1	128	410	0	85	2								-20.000000	1	1	121410	1	39	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECEL1	9427	broad.mit.edu	37	2	233349192	233349192	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233349192T>C	ENST00000304546.1	-	6	1384	c.1174A>G	c.(1174-1176)Aca>Gca	p.T392A	ECEL1_ENST00000409941.1_Missense_Mutation_p.T392A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1			23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			CGGTGGGGTGTGGAGCGGATG	0.587000																								0							SO:0001583	missense			ENST00000304546.1	0	1	hg19	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613340	0.66672	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.77750	-1.12;-1.12	5.73	4.55	0.56014	Peptidase M13 (1);	0.210096	0.48767	N	0.000178	D	0.83769	0.5326	M	0.76727	2.345	0.58432	D	0.999999	D;B	0.58268	0.982;0.271	P;B	0.55087	0.768;0.207	D	0.84668	0.0710	10	0.59425	D	0.04	-11.6338	13.0361	0.58873	0.0:0.0:0.1346:0.8654	.	392;392	O95672-2;O95672	.;ECEL1_HUMAN	A	392	ENSP00000302051:T392A;ENSP00000386333:T392A	ENSP00000302051:T392A	T	-	1	0	ECEL1	233057436	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.327000	0.65881	0.980000	0.38523	0.456000	0.33151	ACA		TCGA-IB-7651-01A-11D-2154-08	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	0	0	0	13	971	0	163	0	5.663021e-03	0	8	0	163	2		0	0	0	0	0	2	1	9.994451e-01	14	946	0	162	2								-8.342064	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.170000	0.090000	1.000000	0.170000	0.252040	0.170000	0	1.200000e-01	2.500000e-01
CHRND	1144	broad.mit.edu	37	2	233394759	233394759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233394759C>T	ENST00000258385.3	+	7	762	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CHRND_ENST00000536614.1_Missense_Mutation_p.P207L|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Missense_Mutation_p.R229C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)			34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Galantamine(DB00674)	CATCATCCGCCGCAAGCCCCT	0.612000																								0							SO:0001583	missense			ENST00000258385.3	1	1	hg19	CCDS2494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940607|3.940607	0.73557|0.73557	0.0|0.0	1.16E-4|1.16E-4	ENSG00000135902|ENSG00000135902	ENST00000536614|ENST00000543200;ENST00000258385	T|D;D	0.75050|0.96830	-0.9|-4.14;-4.14	5.18|5.18	4.26|4.26	0.50523|0.50523	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.048932	.|0.85682	.|D	.|0.000000	D|D	0.98896|0.98896	0.9626|0.9626	H|H	0.98577|0.98577	4.27|4.27	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.98858|0.98858	1.0761|1.0761	7|10	0.56958|0.87932	D|D	0.05|0	.|.	15.7298|15.7298	0.77792|0.77792	0.1366:0.8634:0.0:0.0|0.1366:0.8634:0.0:0.0	.|.	.|229;244;244	.|B4DT92;A8K661;Q07001	.|.;.;ACHD_HUMAN	L|C	207|229;244	ENSP00000437740:P207L|ENSP00000438380:R229C;ENSP00000258385:R244C	ENSP00000408819:P207L|ENSP00000258385:R244C	P|R	+|+	2|1	0|0	CHRND|CHRND	233103003|233103003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.975000|1.975000	0.40569|0.40569	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	CCG|CGC		TCGA-IB-7651-01A-11D-2154-08	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2	1	0	1	131	539	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	129	509	0	93	2								-2.997085	1	1	121412	2	39	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNJ13	3769	broad.mit.edu	37	2	233635952	233635952	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233635952G>A	ENST00000233826.3	-	2	260	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13			9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)			GCATCTCGAAGATATGCAAGA	0.483000																								0							SO:0001583	missense			ENST00000233826.3	1	1	hg19	CCDS2498.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.589267|3.589267	0.66105|0.66105	.|.	.|.	ENSG00000115474|ENSG00000115474	ENST00000233826;ENST00000409779;ENST00000410029|ENST00000444142	D;D;D|.	0.96200|.	-3.94;-3.94;-3.94|.	5.54|5.54	4.66|4.66	0.58398|0.58398	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71204|0.71204	0.3312|0.3312	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.981|.	D;P|.	0.75020|.	0.985;0.88|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.48119|.	T|.	0.1|.	.|.	14.3369|14.3369	0.66598|0.66598	0.0713:0.0:0.9287:0.0|0.0713:0.0:0.9287:0.0	.|.	41;41|.	O60928;A0PGH1|.	IRK13_HUMAN;.|.	F|F	41|8	ENSP00000233826:L41F;ENSP00000386408:L41F;ENSP00000386251:L41F|.	ENSP00000233826:L41F|.	L|S	-|-	1|2	0|0	KCNJ13|KCNJ13	233344196|233344196	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.957000|0.957000	0.61999|0.61999	4.747000|4.747000	0.62141|0.62141	1.338000|1.338000	0.45544|0.45544	-0.136000|-0.136000	0.14681|0.14681	CTT|TCT		TCGA-IB-7651-01A-11D-2154-08	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	0	0	1	93	279	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	93	272	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIGYF2	26058	broad.mit.edu	37	2	233715097	233715097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233715097C>T	ENST00000409547.1	+	30	4121	c.3810C>T	c.(3808-3810)gtC>gtT	p.V1270V	GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|GIGYF2_ENST00000373566.3_Silent_p.V1292V|GIGYF2_ENST00000373563.4_Silent_p.V1270V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2			63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)			AGAAGATGGTCCGAGCAGATC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000409547.1	1	1	hg19	CCDS33401.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	1	0	0	10	285	0	35	1	9.665277e-01	7	162	0	35	2		0	0	0	0	0	2	1	9.966863e-01	10	279	0	35	2								-3.778053	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.460000	0.230000	1.000000	0.430000	0.510981	0.460000	0	3.300000e-01	6.700000e-01
INPP5D	3635	broad.mit.edu	37	2	234085994	234085994	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234085994T>C	ENST00000359570.5	+	20	2035		c.e20+2		INPP5D_ENST00000538935.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site|INPP5D_ENST00000450745.1_Splice_Site			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa			2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)			AGTCTTATGGTGAGTTCAAAC	0.488000													NSCLC(82;1215 1426 16163 20348 41018)											0							SO:0001630	splice_region_variant			ENST00000359570.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.64	2.894186	0.52121	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9446	0.71020	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5D	233750733	1.000000	0.71417	0.996000	0.52242	0.414000	0.31173	7.652000	0.83633	1.930000	0.55929	0.374000	0.22700	.		TCGA-IB-7651-01A-11D-2154-08	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	112	331	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	111	325	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGKD	8527	broad.mit.edu	37	2	234299129	234299129	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234299129G>A	ENST00000264057.2	+	3	360	c.348G>A	c.(346-348)acG>acA	p.T116T	AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Splice_Site_p.T72T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa			38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Phosphatidylserine(DB00144)	ACAGTTTTACGGTAAGATTCC	0.398000																								0							SO:0001630	splice_region_variant			ENST00000264057.2	1	0	hg19	CCDS2504.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	1	0	1	64	183	0	45	1	9.932036e-01	3	22	0	45	2		0	0	0	0	0	2	1	1	64	180	0	44	2								-4.662620	1	1	121412	4	38	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGKD	8527	broad.mit.edu	37	2	234343475	234343475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234343475G>A	ENST00000264057.2	+	5	526	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa			38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Phosphatidylserine(DB00144)	CTGTTCCCACGCGAGGCCGAC	0.562000																								0							SO:0001583	missense			ENST00000264057.2	1	1	hg19	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017608	0.93404	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	D;D;T;D	0.92805	-3.11;-3.11;1.52;-3.11	4.92	4.92	0.64577	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.075139	0.53938	D	0.000043	D	0.92215	0.7531	N	0.12961	0.28	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.878	D;D;D;B	0.83275	0.969;0.989;0.996;0.288	D	0.92313	0.5859	10	0.39692	T	0.17	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	56;108;128;172	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	T	172;108;142;128	ENSP00000264057:A172T;ENSP00000407938:A108T;ENSP00000395530:A142T;ENSP00000386455:A128T	ENSP00000264057:A172T	A	+	1	0	DGKD	234008214	1.000000	0.71417	0.915000	0.36163	0.909000	0.53808	9.125000	0.94402	2.724000	0.93272	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	1	0	1	229	626	0	162	1	9.999666e-01	22	21	0	162	2		0	0	0	0	0	2	1	1	223	615	0	161	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP40	55230	broad.mit.edu	37	2	234407224	234407224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234407224G>T	ENST00000427112.2	-	22	2717	c.2682C>A	c.(2680-2682)tgC>tgA	p.C894*	USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*|USP40_ENST00000251722.6_Nonsense_Mutation_p.C894*|USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40			30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)			CAGCTTCATAGCACCAATCCA	0.353000																								0							SO:0001587	stop_gained			ENST00000427112.2	0	1	hg19	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.785296|7.785296	0.98489|0.98489	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|.	.|.	.|.	5.14|5.14	1.29|1.29	0.21616|0.21616	.|.	.|0.120079	.|0.85682	.|D	.|0.000000	T|.	0.17152|.	0.0412|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38308|.	-0.9667|.	3|.	.|0.02654	.|T	.|1	.|.	8.245|8.245	0.31682|0.31682	0.3141:0.0:0.6859:0.0|0.3141:0.0:0.6859:0.0	.|.	.|.	.|.	.|.	D|X	70|906;894;894;70	.|.	.|ENSP00000251722:C894X	A|C	-|-	2|3	0|2	USP40|USP40	234071963|234071963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.069000|1.069000	0.30641|0.30641	0.273000|0.273000	0.22049|0.22049	0.555000|0.555000	0.69702|0.69702	GCT|TGC		TCGA-IB-7651-01A-11D-2154-08	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	1	0	1	36	111	0	39	1	9.999306e-01	4	46	0	39	2		0	0	0	0	0	2	1	1	35	110	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP40	55230	broad.mit.edu	37	2	234436099	234436099	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234436099A>C	ENST00000427112.2	-	12	1711	c.1676T>G	c.(1675-1677)tTt>tGt	p.F559C	USP40_ENST00000251722.6_Missense_Mutation_p.F559C|USP40_ENST00000450966.1_Missense_Mutation_p.F571C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40			30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)			TCTTTTATCAAAGGTCAAATC	0.433000																								0							SO:0001583	missense			ENST00000427112.2	1	1	hg19	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086059	0.76642	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.06068	3.35;3.36;3.36	4.96	3.75	0.43078	.	1.937410	0.01882	N	0.037909	T	0.25344	0.0616	M	0.62723	1.935	0.42061	D	0.991161	D;D	0.76494	0.999;0.999	P;D	0.66716	0.885;0.946	T	0.00009	-1.2467	10	0.87932	D	0	.	10.947	0.47306	0.8595:0.0:0.0:0.1405	.	559;571	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	C	571;559;559	ENSP00000415434:F571C;ENSP00000251722:F559C;ENSP00000387898:F559C	ENSP00000251722:F559C	F	-	2	0	USP40	234100838	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.814000	0.69208	0.788000	0.33755	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	1	0	1	55	157	0	41	1	9.999670e-01	3	45	0	41	2		0	0	0	0	0	2	1	1	55	156	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGT1A1	54658	broad.mit.edu	37	2	234526586	234526586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526586C>T	ENST00000373450.4	+	1	296	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	p.S78*(1)		30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AAGACTTACTCAACCTCATAC	0.463000																								1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000373450.4	1	0	hg19	CCDS33402.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.12	1.544877	0.27652	.	.	ENSG00000242366	ENST00000373450	T	0.60797	0.16	3.96	-2.22	0.06952	.	.	.	.	.	T	0.52677	0.1749	M	0.71581	2.175	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.013;0.013	T	0.54337	-0.8309	9	0.72032	D	0.01	.	8.6158	0.33831	0.5213:0.4042:0.0:0.0746	.	78;78	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	L	78	ENSP00000362549:S78L	ENSP00000362549:S78L	S	+	2	0	UGT1A8	234191325	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.735000	0.26115	-0.191000	0.10448	-0.558000	0.04189	TCA		TCGA-IB-7651-01A-11D-2154-08	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1	1	0	1	138	624	0	166		0	0	0	0	166	2		0	0	0	0	0	2	1	1	135	613	0	166	2								-3.267582	1	1	121412	1	34	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGT1A1	54658	broad.mit.edu	37	2	234526745	234526745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526745G>A	ENST00000373450.4	+	1	455	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	p.R131Q(1)		30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTAATGACCGAAAATTAGTA	0.358000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373450.4	1	0	hg19	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	1.545	-0.540686	0.04053	0.0	1.16E-4	ENSG00000242366	ENST00000373450	T	0.59906	0.23	3.96	-7.92	0.01160	.	.	.	.	.	T	0.28333	0.0700	N	0.11756	0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11036	-1.0604	9	0.28530	T	0.3	.	3.6313	0.08133	0.2058:0.2713:0.3809:0.142	.	131;131	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	Q	131	ENSP00000362549:R131Q	ENSP00000362549:R131Q	R	+	2	0	UGT1A8	234191484	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.510000	0.06328	-2.963000	0.00289	-1.358000	0.01219	CGA		TCGA-IB-7651-01A-11D-2154-08	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1	1	0	0	67	879	2	156		0	0	0	2	156	2		0	0	0	0	0	2	1	9.999923e-01	67	864	2	156	27								-12.485390	1	0	121412	2	34	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.900000	0.700000	1.000000	1.000000	0.902471	0.900000	1	8.000000e-01	1
UGT1A4	54657	broad.mit.edu	37	2	234627942	234627942	+	Missense_Mutation	SNP	C	C	T	rs148565852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234627942C>T	ENST00000373409.3	+	1	519	c.476C>T	c.(475-477)gCg>gTg	p.A159V	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4			26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTCTGTGGGGCGGTGCTGGCT	0.488000													Melanoma(99;1011 1962 13201 26492)											0							SO:0001583	missense			ENST00000373409.3	1	1	hg19	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452340	0.01080	6.81E-4	0.0	ENSG00000244474	ENST00000373409	T	0.61040	0.14	4.31	2.51	0.30379	.	.	.	.	.	T	0.31040	0.0784	N	0.04245	-0.25	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.21360	0.004;0.034	T	0.18967	-1.0320	9	0.39692	T	0.17	.	3.9952	0.09554	0.2919:0.4551:0.0:0.253	.	159;159	B8K288;P22310	.;UD14_HUMAN	V	159	ENSP00000362508:A159V	ENSP00000362508:A159V	A	+	2	0	UGT1A4	234292681	0.000000	0.05858	0.022000	0.16811	0.000000	0.00434	-0.418000	0.07080	0.299000	0.22661	-1.537000	0.00914	GCG		TCGA-IB-7651-01A-11D-2154-08	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	1	0	1	300	906	0	217		0	0	0	0	217	2		0	0	0	0	0	2	1	1	296	884	0	218	2								-20.000000	1	1	121412	4	43	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM8	79054	broad.mit.edu	37	2	234891813	234891813	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234891813G>A	ENST00000324695.4	+	20	2746	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	TRPM8_ENST00000433712.2_Silent_p.S480S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8			66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Menthol(DB00825)	TATTCCGTTCGGTCATCTACG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000324695.4	1	1	hg19	CCDS33407.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	1	0	0	27	649	0	133	0	9.971075e-03	0	4	0	133	2		0	0	0	0	0	2	1	9.999999e-01	27	638	0	132	2								-2.550461	1	1	121412	2	36	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.520000	0.340000	1.000000	0.500000	0.562653	0.520000	0	4.200000e-01	6.600000e-01
ARL4C	10123	broad.mit.edu	37	2	235404671	235404671	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235404671T>G	ENST00000390645.2	-	1	1026	c.560A>C	c.(559-561)aAg>aCg	p.K187T	ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C			4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)			CTTCTTCTGCTTGAGGGACTT	0.577000													Esophageal Squamous(157;1837 2534 13028 22831)											0							SO:0001583	missense			ENST00000390645.2	1	1	hg19	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557128	0.65425	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	T;T	0.69040	-0.37;-0.35	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.52905	1.665	0.47994	D	0.999565	P;D	0.57899	0.947;0.981	P;D	0.65140	0.727;0.932	T	0.78196	-0.2298	10	0.87932	D	0	-13.7263	12.4319	0.55578	0.0:0.0:0.0:1.0	.	187;187	P56559;Q4A519	ARL4C_HUMAN;.	T	187	ENSP00000375057:K187T;ENSP00000339754:K187T	ENSP00000339754:K187T	K	-	2	0	ARL4C	235069410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.993000	0.70616	1.679000	0.50963	0.455000	0.32223	AAG		TCGA-IB-7651-01A-11D-2154-08	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1	1	0	1	54	257	0	51	1	1	12	182	0	51	2		0	0	0	0	0	2	1	1	54	253	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3BP4	23677	broad.mit.edu	37	2	235961352	235961352	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235961352C>T	ENST00000409212.1	+	5	3132	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	SH3BP4_ENST00000392011.2_Silent_p.Y875Y|SH3BP4_ENST00000344528.4_Silent_p.Y875Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4			44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)			TGGACGCCTACGAGTCTCCCC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000409212.1	0	1	hg19	CCDS2513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1	1	0	1	9	56	0	18	1	9.999974e-01	35	180	0	18	2		0	0	0	0	0	2	1	9.953389e-01	9	56	0	17	2								-16.590520	1	1	121226	2	22	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.910000	1.000000	1.000000	0.994298	0.990000	1	9.900000e-01	1
AGAP1	116987	broad.mit.edu	37	2	236626223	236626223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236626223G>T	ENST00000304032.8	+	3	825	c.245G>T	c.(244-246)aGc>aTc	p.S82I	AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I|AGAP1_ENST00000409538.1_Missense_Mutation_p.S347I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1			41					AACTTGGCCAGCGGCAAGTCT	0.478000																								0							SO:0001583	missense			ENST00000304032.8	1	1	hg19	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182524	0.94885	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.0	5.0	0.66597	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.62105	-0.6924	10	0.87932	D	0	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	82;82	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	82;82;82;29;347	ENSP00000387174:S82I;ENSP00000307634:S82I;ENSP00000338378:S82I;ENSP00000385492:S29I;ENSP00000386897:S347I	ENSP00000307634:S82I	S	+	2	0	AGAP1	236290962	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.685000	0.98661	2.488000	0.83962	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	0	0	1	64	267	1	68	1	9.891731e-01	33	25	1	68	5		0	0	0	0	0	2	1	1	63	261	1	67	17								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGAP1	116987	broad.mit.edu	37	2	236945321	236945321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236945321C>A	ENST00000304032.8	+	14	2342	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	RNU7-127P_ENST00000458845.1_RNA|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L800M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1			41					GAGCCAGATCCTGGCCAGCCT	0.612000																								0							SO:0001583	missense			ENST00000304032.8	1	1	hg19	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.322237|3.322237	0.60634|0.60634	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025;ENST00000418654	T;T;T;T|.	0.18502|.	2.21;2.21;2.21;2.21|.	4.75|4.75	3.87|3.87	0.44632|0.44632	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.57533|0.57533	0.2060|0.2060	L|L	0.50333|0.50333	1.59|1.59	0.50467|0.50467	D|D	0.999879|0.999879	D;D|.	0.76494|.	0.994;0.999|.	D;D|.	0.74674|.	0.984;0.959|.	T|T	0.53542|0.53542	-0.8424|-0.8424	10|5	0.48119|.	T|.	0.1|.	.|.	8.9764|8.9764	0.35939|0.35939	0.0:0.7657:0.0:0.2343|0.0:0.7657:0.0:0.2343	.|.	535;588|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	M|H	588;535;800;427|246;140	ENSP00000307634:L588M;ENSP00000338378:L535M;ENSP00000386897:L800M;ENSP00000411824:L427M|.	ENSP00000307634:L588M|.	L|P	+|+	1|2	2|0	AGAP1|AGAP1	236610060|236610060	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.953000|0.953000	0.61014|0.61014	2.640000|2.640000	0.46579|0.46579	1.140000|1.140000	0.42260|0.42260	-0.136000|-0.136000	0.14681|0.14681	CTG|CCT		TCGA-IB-7651-01A-11D-2154-08	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	1	0	1	57	678	0	129	1	9.694058e-01	7	61	0	129	2		0	0	0	0	0	2	1	1	57	664	0	128	2								-2.744762	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.750000	1.000000	1.000000	0.950317	0.990000	1	8.600000e-01	1
GBX2	2637	broad.mit.edu	37	2	237076102	237076102	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076102C>A	ENST00000306318.4	-	1	910	c.513G>T	c.(511-513)caG>caT	p.Q171H	GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2			7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)			CGAGCGAAGCCTGCACCGTCT	0.756000																								0							SO:0001583	missense			ENST00000306318.4	1	1	hg19	CCDS2515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.376234|1.376234	0.24857|0.24857	.|.	.|.	ENSG00000233611|ENSG00000168505	ENST00000415226|ENST00000306318;ENST00000551105	.|D	.|0.91996	.|-2.95	4.28|4.28	2.41|2.41	0.29592|0.29592	.|.	.|0.246616	.|0.34088	.|N	.|0.004272	T|T	0.80423|0.80423	0.4620|0.4620	N|N	0.08118|0.08118	0|0	0.26482|0.26482	N|N	0.975095|0.975095	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.68777|0.68777	-0.5319|-0.5319	5|10	.|0.33940	.|T	.|0.23	-14.2715|-14.2715	7.5684|7.5684	0.27894|0.27894	0.0:0.7251:0.0:0.2749|0.0:0.7251:0.0:0.2749	.|.	.|171;171	.|F8VY47;P52951	.|.;GBX2_HUMAN	M|H	5|171	.|ENSP00000302251:Q171H	.|ENSP00000302251:Q171H	L|Q	+|-	1|3	2|2	AC079135.1|GBX2	236740841|236740841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	0.786000|0.786000	0.26844|0.26844	0.761000|0.761000	0.33130|0.33130	0.462000|0.462000	0.41574|0.41574	CTG|CAG		TCGA-IB-7651-01A-11D-2154-08	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	1	0	0	24	117	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999998e-01	24	117	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
GBX2	2637	broad.mit.edu	37	2	237076320	237076320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076320C>T	ENST00000306318.4	-	1	692	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	GBX2_ENST00000551105.1_Missense_Mutation_p.A99T|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2			7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)			GAGGTGAGCGCCATGCCCTGC	0.746000																								0							SO:0001583	missense			ENST00000306318.4	1	1	hg19	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478753	0.84747	.	.	ENSG00000168505	ENST00000306318;ENST00000551105	D	0.92446	-3.04	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	N	0.19112	0.55	0.58432	D	0.999999	D;B	0.76494	0.999;0.024	D;B	0.74023	0.982;0.007	D	0.88360	0.2987	10	0.15952	T	0.53	-13.0501	14.1461	0.65351	0.0:0.8486:0.1513:0.0	.	99;99	F8VY47;P52951	.;GBX2_HUMAN	T	99	ENSP00000302251:A99T	ENSP00000302251:A99T	A	-	1	0	GBX2	236741059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.450000	0.44943	2.176000	0.68965	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	1	0	0	22	120	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.999993e-01	22	119	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999928	0.990000	1	9.900000e-01	1
IQCA1	79781	broad.mit.edu	37	2	237272537	237272537	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237272537G>T	ENST00000409907.3	-	15	2029	c.1755C>A	c.(1753-1755)gtC>gtA	p.V585V	IQCA1_ENST00000309507.5_Silent_p.V582V|IQCA1_ENST00000431676.2_Silent_p.V544V	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1			26					AGATGGCATGGACCAGCATTT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000409907.3	1	1	hg19	CCDS46549.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	1	0	1	136	385	0	73	0	6.589236e-01	0	8	0	73	2		0	0	0	0	0	2	1	1	135	377	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQCA1	79781	broad.mit.edu	37	2	237406070	237406070	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237406070C>A	ENST00000409907.3	-	2	346	c.72G>T	c.(70-72)gaG>gaT	p.E24D	IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D|IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1			26					TCTTCTGAGGCTCTTTATCGA	0.383000																								0							SO:0001583	missense			ENST00000409907.3	1	1	hg19	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.487286|2.487286	0.44249|0.44249	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.95205	.|-3.5;-3.46;-3.64	5.52|5.52	2.71|2.71	0.32032|0.32032	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	D|D	0.95802|0.95802	0.8634|0.8634	L|L	0.56280|0.56280	1.765|1.765	0.34624|0.34624	D|D	0.718933|0.718933	.|D;D;D	.|0.89917	.|0.965;1.0;0.965	.|P;D;P	.|0.91635	.|0.523;0.999;0.523	D|D	0.96316|0.96316	0.9232|0.9232	5|10	.|0.56958	.|D	.|0.05	.|.	12.8231|12.8231	0.57704|0.57704	0.0:0.7967:0.0:0.2033|0.0:0.7967:0.0:0.2033	.|.	.|24;31;24	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	S|D	43|24;31;20;24;20	.|ENSP00000387347:E24D;ENSP00000311951:E20D;ENSP00000407213:E24D	.|ENSP00000254653:E24D	A|E	-|-	1|3	0|2	IQCA1|IQCA1	237070809|237070809	0.356000|0.356000	0.24930|0.24930	0.991000|0.991000	0.47740|0.47740	0.487000|0.487000	0.33371|0.33371	0.131000|0.131000	0.15870|0.15870	0.036000|0.036000	0.15547|0.15547	-0.797000|-0.797000	0.03246|0.03246	GCC|GAG		TCGA-IB-7651-01A-11D-2154-08	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	1	0	0	10	147	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	9.970827e-01	10	146	0	31	2								-14.020690	1	1	120794	1	24	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.860000	0.430000	1.000000	1.000000	0.826553	0.860000	1	6.100000e-01	1
COPS8	10920	broad.mit.edu	37	2	237998518	237998518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237998518T>C	ENST00000354371.2	+	4	865	c.212T>C	c.(211-213)cTt>cCt	p.L71P	COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8			4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)			AATTCTGAACTTGGGGGAATT	0.408000																								0							SO:0001583	missense			ENST00000354371.2	1	1	hg19	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167928	0.78339	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409334;ENST00000409629	.	.	.	5.37	5.37	0.77165	.	0.063904	0.64402	D	0.000009	T	0.78470	0.4288	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.81758	-0.0786	9	0.87932	D	0	.	14.5789	0.68271	0.0:0.0:0.0:1.0	.	71;71	B8ZZP3;Q99627	.;CSN8_HUMAN	P	71;22;71;71	.	ENSP00000346340:L71P	L	+	2	0	COPS8	237663257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.043000	0.60533	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	1	0	1	66	364	0	74	1	1	87	348	0	74	2		0	0	0	0	0	2	1	1	62	356	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL6A3	1293	broad.mit.edu	37	2	238249523	238249523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238249523C>T	ENST00000295550.4	-	38	8488	c.8036G>A	c.(8035-8037)aGc>aAc	p.S2679N	COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3			217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)			AGGTGGCATGCTGGCATTGTC	0.582000																								0							SO:0001583	missense			ENST00000295550.4	1	1	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	4.441	0.081634	0.08533	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88586	-2.4;-2.39;-2.37;-2.37;-2.37;-2.36	5.16	5.16	0.70880	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.92821	0.7717	L	0.55481	1.735	0.41280	D	0.986903	D;D;D	0.76494	0.997;0.996;0.999	D;P;D	0.85130	0.939;0.899;0.997	D	0.90740	0.4649	10	0.25106	T	0.35	.	19.0071	0.92856	0.0:1.0:0.0:0.0	.	2072;2473;2679	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2679;2478;2473;2072;2473;2479	ENSP00000295550:S2679N;ENSP00000315609:S2478N;ENSP00000315873:S2473N;ENSP00000418285:S2072N;ENSP00000386844:S2473N;ENSP00000295546:S2479N	ENSP00000295550:S2679N	S	-	2	0	COL6A3	237914262	0.985000	0.35326	0.653000	0.29593	0.037000	0.13140	2.573000	0.46007	2.536000	0.85505	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	0	0	1	62	289	0	69	1	1	2	1889	0	69	2		0	0	0	0	0	2	1	1	61	284	0	69	2								-20.000000	1	1	121412	3	28	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL6A3	1293	broad.mit.edu	37	2	238253142	238253142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238253142G>T	ENST00000295550.4	-	36	7971	c.7519C>A	c.(7519-7521)Cta>Ata	p.L2507I	COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3			217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)			TTCCTCATTAGGAATCCGTTC	0.522000																								0							SO:0001583	missense			ENST00000295550.4	1	1	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	8.214	0.800919	0.16397	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.87	3.99	0.46301	von Willebrand factor, type A (3);	0.000000	0.44285	D	0.000475	D	0.89312	0.6679	M	0.76574	2.34	0.51482	D	0.999924	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.83275	0.972;0.936;0.953;0.996	D	0.87282	0.2293	10	0.24483	T	0.36	.	13.4122	0.60948	0.0763:0.0:0.9237:0.0	.	1900;1900;2301;2507	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	I	2507;2306;2301;1900;2301;2307	ENSP00000295550:L2507I;ENSP00000315609:L2306I;ENSP00000315873:L2301I;ENSP00000418285:L1900I;ENSP00000386844:L2301I;ENSP00000295546:L2307I	ENSP00000295550:L2507I	L	-	1	2	COL6A3	237917881	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	6.486000	0.73629	1.171000	0.42768	0.655000	0.94253	CTA		TCGA-IB-7651-01A-11D-2154-08	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	1	0	1	201	582	0	130	1	1	2	2507	0	130	2		0	0	0	0	0	2	1	1	198	577	0	128	2								-7.414100	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL6A3	1293	broad.mit.edu	37	2	238283139	238283139	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238283139G>C	ENST00000295550.4	-	8	4047	c.3595C>G	c.(3595-3597)Cag>Gag	p.Q1199E	COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3			217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)			GAGATGACCTGTTGGACGGTC	0.617000																								0							SO:0001583	missense			ENST00000295550.4	1	1	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442636	0.43326	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.97	4.97	0.65823	von Willebrand factor, type A (2);	0.000000	0.49916	D	0.000138	T	0.62245	0.2412	L	0.38649	1.16	0.54753	D	0.999981	D;B;P;D;P	0.55172	0.97;0.107;0.594;0.963;0.592	D;B;P;P;B	0.63877	0.919;0.062;0.547;0.867;0.306	T	0.58047	-0.7705	10	0.30854	T	0.27	.	18.6288	0.91352	0.0:0.0:1.0:0.0	.	592;792;993;993;1199	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1199;998;993;592;993;999;993;792	ENSP00000295550:Q1199E;ENSP00000315609:Q998E;ENSP00000315873:Q993E;ENSP00000418285:Q592E;ENSP00000386844:Q993E;ENSP00000295546:Q999E;ENSP00000375861:Q993E;ENSP00000375860:Q792E	ENSP00000295550:Q1199E	Q	-	1	0	COL6A3	237947878	1.000000	0.71417	0.941000	0.38009	0.510000	0.34073	4.218000	0.58554	2.477000	0.83638	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	1	0	1	91	288	0	73	0	1	0	923	0	73	2		0	0	0	0	0	2	1	1	90	282	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL6A3	1293	broad.mit.edu	37	2	238285711	238285711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238285711C>T	ENST00000295550.4	-	7	3226	c.2774G>A	c.(2773-2775)aGg>aAg	p.R925K	COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3			217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)			AAAAATGTACCTCTGTGCATA	0.542000																								0							SO:0001583	missense			ENST00000295550.4	1	1	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286726	0.40494	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	4.67	0.58626	von Willebrand factor, type A (3);	0.103753	0.41396	D	0.000884	T	0.82144	0.4973	N	0.25426	0.745	0.19575	N	0.999968	B;P;B;B;P;B	0.50943	0.09;0.94;0.149;0.291;0.866;0.201	B;P;B;P;P;B	0.57548	0.13;0.823;0.314;0.491;0.591;0.13	T	0.73483	-0.3968	10	0.22706	T	0.39	.	14.6055	0.68475	0.0:0.9293:0.0:0.0707	.	725;318;518;719;719;925	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	K	925;724;719;318;719;725;719;518	ENSP00000295550:R925K;ENSP00000315609:R724K;ENSP00000315873:R719K;ENSP00000418285:R318K;ENSP00000386844:R719K;ENSP00000295546:R725K;ENSP00000375861:R719K;ENSP00000375860:R518K	ENSP00000295550:R925K	R	-	2	0	COL6A3	237950450	0.001000	0.12720	0.005000	0.12908	0.365000	0.29674	1.221000	0.32503	1.335000	0.45486	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	1	0	1	81	372	0	86	0	1	1	1332	0	86	2		0	0	0	0	0	2	1	1	79	364	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLPH	79083	broad.mit.edu	37	2	238449001	238449001	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238449001C>A	ENST00000264605.3	+	10	1409	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	MLPH_ENST00000409373.1_Missense_Mutation_p.A304D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.A372D|MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000410032.1_Missense_Mutation_p.A229D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin			25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)			GGTCTAGGTGCTGGAGTGCGC	0.632000																								0							SO:0001583	missense			ENST00000264605.3	1	1	hg19	CCDS2518.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.66|14.66|14.66	2.602683|2.602683|2.602683	0.46423|0.46423|0.46423	.|.|.	.|.|.	ENSG00000115648|ENSG00000115648|ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373;ENST00000437893|ENST00000415753|ENST00000436965	T;T;T;T;T;T|.|.	0.26810|.|.	1.95;2.11;1.95;1.92;1.71;1.87|.|.	4.34|4.34|4.34	-1.32|-1.32|-1.32	0.09201|0.09201|0.09201	.|.|.	1.852170|.|.	0.04248|.|.	N|.|.	0.338191|.|.	T|.|T	0.26774|.|0.26774	0.0655|.|0.0655	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;D;D;P;D;P;P;B|.|.	0.57571|.|.	0.158;0.98;0.974;0.839;0.958;0.9;0.883;0.102|.|.	B;P;P;B;P;P;P;B|.|.	0.51657|.|.	0.028;0.601;0.676;0.347;0.587;0.549;0.482;0.037|.|.	T|.|T	0.28586|.|0.28586	-1.0039|.|-1.0039	10|.|5	0.10377|.|.	T|.|.	0.69|.|.	-2.1634|-2.1634|-2.1634	2.0399|2.0399|2.0399	0.03548|0.03548|0.03548	0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891|0.1362:0.3652:0.3095:0.1891	.|.|.	33;372;228;344;304;344;372;229|.|.	Q53QV8;B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5|.|.	.;.;.;.;.;.;MELPH_HUMAN;.|.|.	D|X|M	229;372;372;344;304;132|59|93	ENSP00000386338:A229D;ENSP00000264605:A372D;ENSP00000414849:A372D;ENSP00000341845:A344D;ENSP00000386780:A304D;ENSP00000412438:A132D|.|.	ENSP00000264605:A372D|.|.	A|C|L	+|+|+	2|3|1	0|2|2	MLPH|MLPH|MLPH	238113740|238113740|238113740	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.003000|0.003000|0.003000	0.03518|0.03518|0.03518	0.487000|0.487000|0.487000	0.22356|0.22356|0.22356	-0.248000|-0.248000|-0.248000	0.09583|0.09583|0.09583	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|TGC|CTG		TCGA-IB-7651-01A-11D-2154-08	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	1	0	1	60	149	0	34	1	1	293	234	0	34	2		0	0	0	0	0	2	1	1	60	146	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRFIP1	9208	broad.mit.edu	37	2	238688109	238688109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238688109C>T	ENST00000308482.9	+	24	1926	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1			29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)			AGGTGAGCAACGGCCACTTAG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000308482.9	1	1	hg19	CCDS46551.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	1	0	1	46	119	0	53	1	1	8	87	0	53	2		0	0	0	0	0	2	1	1	45	119	0	53	2								-20.000000	1	1	120384	2	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM44	375316	broad.mit.edu	37	2	238726960	238726960	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238726960G>A	ENST00000409864.1	+	3	1655	c.1401G>A	c.(1399-1401)caG>caA	p.Q467Q	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Silent_p.Q467Q			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44			33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)			CAATTAATCAGACAGTGGACG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000409864.1	1	1	hg19	CCDS46554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	1	0	1	78	221	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	77	217	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCLY	51540	broad.mit.edu	37	2	238990418	238990418	+	Missense_Mutation	SNP	C	C	T	rs140009501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990418C>T	ENST00000555827.1	+	5	617	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	SCLY_ENST00000254663.6_Missense_Mutation_p.R193C|SCLY_ENST00000409736.2_Missense_Mutation_p.R185C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C			Q96I15	SCLY_HUMAN	selenocysteine lyase			22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			CGCGGCAGTCCGCCCGACCAC	0.577000													Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)											0							SO:0001583	missense			ENST00000555827.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026472|3.026472	0.54683|0.54683	2.27E-4|2.27E-4	0.0|0.0	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;D;T;T;T	.|0.87334	.|1.87;1.87;1.45;-2.24;1.45;1.87;1.45	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91078|0.91078	0.7192|0.7192	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.45283	.|0.855;0.745;0.833	.|B;B;B	.|0.40410	.|0.188;0.328;0.17	D|D	0.93015|0.93015	0.6435|0.6435	5|10	.|0.87932	.|D	.|0	-17.0765|-17.0765	18.9105|18.9105	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;185;185	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	L|C	28|193;185;103;99;185;91;15	.|ENSP00000254663:R193C;ENSP00000450613:R185C;ENSP00000362429:R103C;ENSP00000414165:R99C;ENSP00000387162:R185C;ENSP00000416865:R91C;ENSP00000414053:R15C	.|ENSP00000254663:R185C	P|R	+|+	2|1	0|0	SCLY|SCLY	238655157|238655157	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.064000|0.064000	0.16182|0.16182	3.095000|3.095000	0.50235|0.50235	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	CCG|CGC		TCGA-IB-7651-01A-11D-2154-08	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	66	328	0	65	1	9.997149e-01	15	47	0	65	2		0	0	0	0	0	2	1	1	66	325	0	65	2								-2.904305	1	1	121412	11	39	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCLY	51540	broad.mit.edu	37	2	238990750	238990750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990750C>A	ENST00000555827.1	+	6	741	c.677C>A	c.(676-678)cCt>cAt	p.P226H	SCLY_ENST00000254663.6_Missense_Mutation_p.P234H|SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.P144H|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H			Q96I15	SCLY_HUMAN	selenocysteine lyase			22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			GCTGGGCTACCTCCCATCCTC	0.587000													Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)											0							SO:0001583	missense			ENST00000555827.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.355000|2.355000	0.41700|0.41700	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000431487|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;T;T;T;T	.|0.32988	.|1.85;1.85;1.43;1.44;1.87;1.85;1.48	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58595|0.58595	0.2133|0.2133	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.99	.|D;D;D	.|0.76575	.|0.983;0.988;0.94	T|T	0.61964|0.61964	-0.6954|-0.6954	5|10	.|0.62326	.|D	.|0.03	-14.5538|-14.5538	17.9223|17.9223	0.88970|0.88970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|132;226;226	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	I|H	72|234;226;144;140;226;132;56	.|ENSP00000254663:P234H;ENSP00000450613:P226H;ENSP00000362429:P144H;ENSP00000414165:P140H;ENSP00000387162:P226H;ENSP00000416865:P132H;ENSP00000414053:P56H	.|ENSP00000254663:P226H	L|P	+|+	1|2	0|0	SCLY|SCLY	238655489|238655489	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.017000|0.017000	0.09413|0.09413	5.615000|5.615000	0.67702|0.67702	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	CTC|CCT		TCGA-IB-7651-01A-11D-2154-08	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	88	423	0	89	1	9.989640e-01	9	42	0	89	2		0	0	0	0	0	2	1	1	88	420	0	87	2								-3.248903	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESPNL	339768	broad.mit.edu	37	2	239009107	239009107	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239009107C>T	ENST00000343063.3	+	1	310	c.47C>T	c.(46-48)gCg>gTg	p.A16V	ESPNL_ENST00000409169.1_Missense_Mutation_p.A16V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like			13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			GGGGATGTGGCGACGTTGGAG	0.701000																								0							SO:0001583	missense			ENST00000343063.3	0	1	hg19	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789962	0.31685	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.65364	-0.05;-0.15	4.37	4.37	0.52481	Ankyrin repeat-containing domain (4);	0.453640	0.20101	N	0.099224	T	0.52141	0.1716	L	0.45137	1.4	0.42923	D	0.994297	D	0.57571	0.98	P	0.44394	0.448	T	0.49969	-0.8882	10	0.30078	T	0.28	-19.4228	7.7596	0.28944	0.1819:0.6414:0.1767:0.0	.	16	Q6ZVH7	ESPNL_HUMAN	V	16	ENSP00000339115:A16V;ENSP00000386577:A16V	ENSP00000339115:A16V	A	+	2	0	ESPNL	238673846	0.001000	0.12720	0.980000	0.43619	0.037000	0.13140	-0.055000	0.11807	1.988000	0.58038	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	1	0	0	12	85	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.991766e-01	12	82	0	9	2								-19.609060	1	1	120294	3	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.890000	1.000000	1.000000	0.993768	0.990000	1	9.900000e-01	1
ESPNL	339768	broad.mit.edu	37	2	239016582	239016582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239016582C>T	ENST00000343063.3	+	4	1086	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like			13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			TGGGACCCCCCTCCACGACGC	0.642000																								0							SO:0001583	missense			ENST00000343063.3	1	1	hg19	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388675	0.82902	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;D	0.81996	-1.3;-1.56	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.49916	U	0.000140	D	0.90933	0.7150	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.91720	0.5388	10	0.72032	D	0.01	-31.9858	16.3304	0.83010	0.0:1.0:0.0:0.0	.	275;275	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	F	275	ENSP00000339115:L275F;ENSP00000386577:L275F	ENSP00000339115:L275F	L	+	1	0	ESPNL	238681321	1.000000	0.71417	0.317000	0.25265	0.941000	0.58515	5.079000	0.64431	2.580000	0.87095	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	1	0	1	41	123	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	41	123	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESPNL	339768	broad.mit.edu	37	2	239040166	239040166	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239040166G>T	ENST00000343063.3	+	9	3074	c.2811G>T	c.(2809-2811)acG>acT	p.T937T	ESPNL_ENST00000409169.1_Silent_p.T893T|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Silent_p.T569T	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like			13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			CCTGGGATACGGAGCCTGGCC	0.726000																								0							SO:0001819	synonymous_variant			ENST00000343063.3	1	1	hg19	CCDS2525.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	1	0	1	34	146	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	33	145	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL30	377007	broad.mit.edu	37	2	239049856	239049856	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239049856C>A	ENST00000409223.1	+	2	568	c.461C>A	c.(460-462)gCc>gAc	p.A154D	KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D			Q0D2K2	KLH30_HUMAN	kelch-like family member 30			4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			GCTGCCAAGGCCTGGGCCTTC	0.657000																								0							SO:0001583	missense			ENST00000409223.1	1	1	hg19	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	c	29.7	5.027365	0.93518	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.73469	-0.75;-0.75	5.65	5.65	0.86999	BTB/Kelch-associated (2);	0.056170	0.64402	D	0.000001	D	0.90147	0.6921	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92233	0.5794	10	0.87932	D	0	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	154	Q0D2K2	KLH30_HUMAN	D	154;136	ENSP00000386389:A154D;ENSP00000302386:A136D	ENSP00000302386:A136D	A	+	2	0	KLHL30	238714595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.647000	0.83462	2.671000	0.90904	0.651000	0.88453	GCC		TCGA-IB-7651-01A-11D-2154-08	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	1	0	1	34	157	0	24	0	3.330690e-02	1	1	0	24	2		0	0	0	0	0	2	1	1	34	156	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL30	377007	broad.mit.edu	37	2	239054470	239054470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239054470G>A	ENST00000409223.1	+	5	1254	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30			4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			CTACGTTATCGGCGGTGAGGC	0.657000																								0							SO:0001583	missense			ENST00000409223.1	1	1	hg19	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838659	0.71373	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.98792	-5.14;-5.14	4.62	4.62	0.57501	Kelch-type beta propeller (1);	0.065440	0.64402	D	0.000010	D	0.99275	0.9747	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	16.2395	0.82399	0.0:0.0:1.0:0.0	.	383	Q0D2K2	KLH30_HUMAN	S	383;365	ENSP00000386389:G383S;ENSP00000302386:G365S	ENSP00000302386:G365S	G	+	1	0	KLHL30	238719209	1.000000	0.71417	0.096000	0.21009	0.173000	0.22820	9.781000	0.99029	2.113000	0.64589	0.542000	0.68232	GGC		TCGA-IB-7651-01A-11D-2154-08	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	1	0	1	25	50	0	13	0	2.677955e-01	1	2	0	13	2		0	0	0	0	0	2	1	1	24	50	0	13	2								-19.999580	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL30	377007	broad.mit.edu	37	2	239056536	239056536	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239056536C>T	ENST00000409223.1	+	6	1319	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	KLHL30_ENST00000305959.4_Silent_p.P386P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30			4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			GCTGGACGCCCGTCAGCCCGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000409223.1	1	1	hg19	CCDS46555.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	1	0	0	25	134	0	23	0	2.691511e-02	0	2	0	23	2		0	0	0	0	0	2	1	9.999999e-01	24	133	0	23	2								-3.119995	1	1	120378	2	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
KLHL30	377007	broad.mit.edu	37	2	239059487	239059487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239059487C>T	ENST00000409223.1	+	8	1625	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	KLHL30_ENST00000305959.4_Silent_p.G488G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30			4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)			ATGAGAATGGCGCGCTGGTGC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000409223.1	0	1	hg19	CCDS46555.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	1	0	1	18	36	0	10	0	2.709360e-01	0	3	0	10	2		0	0	0	0	0	2	1	9.999937e-01	17	35	0	10	2								-20.000000	1	1	119890	2	35	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HES6	55502	broad.mit.edu	37	2	239147804	239147804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239147804C>T	ENST00000409160.3	-	3	706	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409182.1_Silent_p.T84T|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000409574.1_Missense_Mutation_p.R100H	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2			hes family bHLH transcription factor 6			2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)			TGGCCTGGCACGTGGACACGA	0.672000																								0							SO:0001583	missense			ENST00000409160.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.26|18.26	3.583903|3.583903	0.65992|0.65992	.|.	.|.	ENSG00000144485|ENSG00000144485	ENST00000409574|ENST00000409160	T|T	0.74421|0.76448	-0.84|-1.02	3.56|3.56	2.56|2.56	0.30785|0.30785	.|.	.|.	.|.	.|.	.|.	T|T	0.80544|0.80544	0.4643|0.4643	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.57468	.|0.821	T|T	0.80643|0.80643	-0.1291|-0.1291	6|8	0.62326|0.87932	D|D	0.03|0	.|.	5.4746|5.4746	0.16688|0.16688	0.1954:0.5149:0.2897:0.0|0.1954:0.5149:0.2897:0.0	.|.	.|192	.|Q96HZ4-2	.|.	H|M	100|192	ENSP00000387008:R100H|ENSP00000387215:V192M	ENSP00000387008:R100H|ENSP00000387215:V192M	R|V	-|-	2|1	0|0	HES6|HES6	238812543|238812543	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.481000|0.481000	0.22260|0.22260	1.771000|1.771000	0.52183|0.52183	0.290000|0.290000	0.19541|0.19541	CGT|GTG		TCGA-IB-7651-01A-11D-2154-08	HES6-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328359.1	0	0	0	23	238	0	27	0	2.660699e-01	0	11	0	27	2		0	0	0	0	0	2	1	9.999995e-01	23	236	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.740000	1.000000	1.000000	0.970351	0.990000	1	9.200000e-01	1
PER2	8864	broad.mit.edu	37	2	239159221	239159221	+	Silent	SNP	G	G	A	rs140643763	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239159221G>A	ENST00000254657.3	-	21	3717	c.3438C>T	c.(3436-3438)agC>agT	p.S1146S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2			37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)			TCATCATGACGCTGCTGTCCG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000254657.3	0	1	hg19	CCDS2528.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	0	0	0	5	120	0	19	0	6.274631e-01	0	49	0	19	2		0	0	0	0	0	2	1	9.348216e-01	5	118	0	19	2								-3.765513	1	1	121410	17	44	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.570000	0.210000	1.000000	1.000000	0.612241	0.570000	0	3.600000e-01	9.300000e-01
PER2	8864	broad.mit.edu	37	2	239161789	239161789	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161789G>T	ENST00000254657.3	-	19	3154	c.2875C>A	c.(2875-2877)Cca>Aca	p.P959T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2			37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)			CAAGCACATGGCTGTCTGGGG	0.667000																								0							SO:0001583	missense			ENST00000254657.3	1	1	hg19	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220607	0.06061	.	.	ENSG00000132326	ENST00000254657	T	0.11821	2.74	4.24	2.43	0.29744	.	3.118280	0.01951	U	0.042658	T	0.20251	0.0487	M	0.75264	2.295	0.09310	N	0.999999	B;B	0.30068	0.267;0.164	B;B	0.28139	0.086;0.06	T	0.26292	-1.0107	10	0.38643	T	0.18	-9.1142	6.8517	0.24018	0.3024:0.0:0.6976:0.0	.	959;959	B4DH14;O15055	.;PER2_HUMAN	T	959	ENSP00000254657:P959T	ENSP00000254657:P959T	P	-	1	0	PER2	238826528	0.035000	0.19736	0.002000	0.10522	0.034000	0.12701	1.910000	0.39927	0.514000	0.28300	-0.126000	0.14955	CCA		TCGA-IB-7651-01A-11D-2154-08	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	0	0	1	123	373	0	77	1	9.999952e-01	11	45	0	77	2		0	0	0	0	0	2	1	1	120	357	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PER2	8864	broad.mit.edu	37	2	239161903	239161903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161903G>A	ENST00000254657.3	-	19	3040	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2			37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)			AAGGCCTGGGGCAGGTTTGGG	0.627000																								0							SO:0001583	missense			ENST00000254657.3	1	1	hg19	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	5.974	0.363685	0.11296	.	.	ENSG00000132326	ENST00000254657	T	0.12569	2.67	3.89	3.89	0.44902	.	0.717806	0.10729	U	0.640805	T	0.11153	0.0272	L	0.38838	1.175	0.31370	N	0.680264	B;B	0.34290	0.447;0.192	B;B	0.28638	0.092;0.033	T	0.05194	-1.0900	10	0.14656	T	0.56	-28.9827	14.1684	0.65493	0.0:0.0:1.0:0.0	.	921;921	B4DH14;O15055	.;PER2_HUMAN	S	921	ENSP00000254657:P921S	ENSP00000254657:P921S	P	-	1	0	PER2	238826642	0.997000	0.39634	0.939000	0.37840	0.168000	0.22595	2.642000	0.46596	2.102000	0.63906	0.549000	0.68633	CCC		TCGA-IB-7651-01A-11D-2154-08	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	1	0	1	75	388	0	78	1	9.997585e-01	12	53	0	78	2		0	0	0	0	0	2	1	1	75	378	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PER2	8864	broad.mit.edu	37	2	239180010	239180010	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239180010A>G	ENST00000254657.3	-	6	994	c.715T>C	c.(715-717)Ttc>Ctc	p.F239L	PER2_ENST00000254658.3_Missense_Mutation_p.F239L|PER2_ENST00000440245.1_Missense_Mutation_p.F239L|PER2_ENST00000355768.2_Missense_Mutation_p.F239L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2			37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)			AAACTGTGGAACACGCCCACA	0.537000																								0							SO:0001583	missense			ENST00000254657.3	1	1	hg19	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987642	0.74589	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.58210	2.42;0.35;1.66;0.35	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;0.982;1.0;0.999	D;D;D;D	0.91635	0.997;0.952;0.999;0.998	T	0.77520	-0.2557	10	0.52906	T	0.07	-35.2439	13.0997	0.59212	1.0:0.0:0.0:0.0	.	239;239;239;239	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	L	239	ENSP00000254657:F239L;ENSP00000254658:F239L;ENSP00000397516:F239L;ENSP00000348013:F239L	ENSP00000254657:F239L	F	-	1	0	PER2	238844749	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	8.995000	0.93534	2.043000	0.60533	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	1	0	1	127	478	0	133	1	8.978955e-01	2	15	0	133	2		0	0	0	0	0	2	1	1	127	473	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAF3IP1	26146	broad.mit.edu	37	2	239234548	239234548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239234548G>A	ENST00000373327.4	+	3	513	c.291G>A	c.(289-291)gcG>gcA	p.A97A	TRAF3IP1_ENST00000391994.2_Silent_p.A97A|TRAF3IP1_ENST00000391993.3_Silent_p.A97A	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1			23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)			GAATCGTGGCGGGGCATGAGC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000373327.4	1	1	hg19	CCDS33415.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	1	0	1	76	217	0	68	1	1	31	54	0	68	2		0	0	0	0	0	2	1	1	74	213	0	67	2								-5.059833	1	1	121412	12	41	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAF3IP1	26146	broad.mit.edu	37	2	239306131	239306131	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306131A>C	ENST00000373327.4	+	16	1943	c.1721A>C	c.(1720-1722)aAg>aCg	p.K574T	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1			23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)			GCATGGAAGAAGGAGAAGGAC	0.552000																								0							SO:0001583	missense			ENST00000373327.4	1	1	hg19	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447268	0.84101	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.16457	2.34;2.34;2.34	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.61387	1.9	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72338	0.977;0.937	T	0.12218	-1.0556	10	0.72032	D	0.01	-44.9473	11.4061	0.49898	0.9275:0.0:0.0724:0.0	.	508;574	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	T	508;574;574;508	ENSP00000375851:K508T;ENSP00000362424:K574T;ENSP00000375852:K574T	ENSP00000362424:K574T	K	+	2	0	TRAF3IP1	238970870	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.663000	0.61532	2.062000	0.61559	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	1	0	1	115	392	0	115	1	1	35	62	0	115	2		0	0	0	0	0	2	1	1	114	387	0	114	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAF3IP1	26146	broad.mit.edu	37	2	239306183	239306183	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306183G>T	ENST00000373327.4	+	16	1995	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1			23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)			CGTCCATCCAGACCCTGTGCA	0.542000																								0							SO:0001583	missense			ENST00000373327.4	1	1	hg19	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983062	0.93044	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.59502	0.26;0.26;0.26	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83168	-0.0095	10	0.87932	D	0	-46.5263	19.0814	0.93185	0.0:0.0:1.0:0.0	.	525;591	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	H	525;591;591;525	ENSP00000375851:Q525H;ENSP00000362424:Q591H;ENSP00000375852:Q591H	ENSP00000362424:Q591H	Q	+	3	2	TRAF3IP1	238970922	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.262000	0.78410	2.514000	0.84764	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	1	0	1	90	319	0	96	1	9.999937e-01	26	38	0	96	2		0	0	0	0	0	2	1	1	88	315	0	95	2								-20.000000	1	0	121400	1	29	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATAD2B	54454	broad.mit.edu	37	2	23977640	23977640	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:23977640A>C	ENST00000238789.5	-	26	4426	c.4083T>G	c.(4081-4083)gcT>gcG	p.A1361A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B			1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TTACTTTAGAAGCACCTATAA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000238789.5	1	1	hg19	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270175	0.23221	.	.	ENSG00000119778	ENST00000381024	.	.	.	5.39	1.7	0.24286	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38908	-0.9639	4	.	.	.	.	4.9134	0.13833	0.496:0.3372:0.1669:0.0	.	.	.	.	R	637	.	.	L	-	2	0	ATAD2B	23831144	0.984000	0.35163	1.000000	0.80357	0.949000	0.60115	0.076000	0.14712	0.434000	0.26340	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	1	0	1	64	185	0	63	1	7.700446e-01	4	6	0	63	2		0	0	0	0	0	2	1	1	63	183	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDAC4	9759	broad.mit.edu	37	2	239988511	239988511	+	Silent	SNP	G	G	A	rs61735640	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239988511G>A	ENST00000345617.3	-	24	3686	c.2895C>T	c.(2893-2895)ggC>ggT	p.G965G	AC017028.9_ENST00000581111.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.6_ENST00000577291.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.3_ENST00000584260.1_RNA|AC017028.10_ENST00000579161.1_RNA|HDAC4_ENST00000543185.1_Silent_p.G549G|AC017028.5_ENST00000582834.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4			62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)			CAATCCGGCCGCCAGCCAGGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000345617.3	1	0	hg19	CCDS2529.1	32	0.014652014652014652	30	0.06097560975609756	2	0.0055248618784530384	0	0.0	0	0.0	G	10.78	1.445630	0.25987	0.056767	3.49E-4	ENSG00000068024	ENST00000430200	.	.	.	4.21	-1.94	0.07571	.	.	.	.	.	T	0.05686	0.0149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15435	-1.0437	4	.	.	.	.	1.2023	0.01887	0.1858:0.2069:0.3754:0.232	.	.	.	.	V	56	.	.	A	-	2	0	HDAC4	239653448	0.000000	0.05858	0.996000	0.52242	0.980000	0.70556	-3.259000	0.00536	-0.238000	0.09724	-0.423000	0.05987	GCG		TCGA-IB-7651-01A-11D-2154-08	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	1	0	0	65	232	0	39	1	6.791388e-01	2	8	0	39	2		0	0	0	0	0	2	1	1	66	229	0	39	2								-2.027503	0	1	121404	642	58	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDAC4	9759	broad.mit.edu	37	2	240029793	240029793	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240029793T>C	ENST00000345617.3	-	15	2841	c.2050A>G	c.(2050-2052)Agc>Ggc	p.S684G	HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G|HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4			62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)			GACCAGATGCTCTGGATCCTC	0.682000																								0							SO:0001583	missense			ENST00000345617.3	1	1	hg19	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518191	0.85495	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.70986	-0.53;-0.53;-0.53	4.01	4.01	0.46588	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.998;1.0;1.0;0.999	P;D;D;D;D;D	0.85130	0.741;0.997;0.988;0.997;0.988;0.987	D	0.87265	0.2282	10	0.87932	D	0	.	13.2665	0.60137	0.0:0.0:0.0:1.0	.	684;567;658;658;652;684	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	G	684;572;268;658;567	ENSP00000264606:S684G;ENSP00000440481:S268G;ENSP00000443057:S658G	ENSP00000264606:S684G	S	-	1	0	HDAC4	239694730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	1.598000	0.50083	0.460000	0.39030	AGC		TCGA-IB-7651-01A-11D-2154-08	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	0	0	1	54	164	0	30	1	8.322539e-01	4	8	0	30	2		0	0	0	0	0	2	1	1	54	157	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDAC4	9759	broad.mit.edu	37	2	240033255	240033255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240033255G>A	ENST00000345617.3	-	14	2721	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*|HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4			62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)			GGGGGCTCCTGCACAGACACG	0.701000																								0							SO:0001587	stop_gained			ENST00000345617.3	0	1	hg19	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	39	7.730069	0.98456	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	.	.	.	4.15	4.15	0.48705	.	0.567018	0.18426	N	0.141592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	16.8141	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	644;532;228;618;527	.	ENSP00000264606:Q644X	Q	-	1	0	HDAC4	239698192	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	8.974000	0.93433	2.038000	0.60285	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	0	0	0	9	132	0	23	1	4.713681e-01	2	21	0	23	2		0	0	0	0	0	2	1	9.945254e-01	9	131	0	22	2								-12.802380	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.860000	0.420000	1.000000	1.000000	0.826751	0.860000	1	6.100000e-01	1
HDAC4	9759	broad.mit.edu	37	2	240048328	240048328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240048328G>A	ENST00000345617.3	-	12	2133	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W|HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4			62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)			GGGGACACCCGGTCTGCACCA	0.637000																								0							SO:0001583	missense			ENST00000345617.3	1	1	hg19	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766312	0.69878	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.69685	0.06;-0.42;1.22	4.46	3.55	0.40652	.	0.096845	0.43110	D	0.000618	T	0.80199	0.4579	M	0.78456	2.415	0.44880	D	0.99789	D;D;P;D;D;D	0.89917	0.999;1.0;0.803;1.0;0.999;0.998	D;D;B;D;P;P	0.79784	0.952;0.985;0.164;0.993;0.739;0.784	T	0.80888	-0.1181	9	.	.	.	.	12.9074	0.58160	0.0:0.0:0.6027:0.3973	.	448;331;422;422;416;448	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	W	448;336;32;422;331	ENSP00000264606:R448W;ENSP00000440481:R32W;ENSP00000443057:R422W	.	R	-	1	2	HDAC4	239713265	0.427000	0.25514	0.960000	0.40013	0.979000	0.70002	1.296000	0.33389	0.956000	0.37904	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	1	0	1	85	241	0	52	1	9.788888e-01	7	13	0	52	2		0	0	0	0	0	2	1	1	83	236	0	50	2								-5.299554	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATAD2B	54454	broad.mit.edu	37	2	24033200	24033200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24033200C>A	ENST00000238789.5	-	18	2783	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B			1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GCACATGATTCCTCAGGTGTT	0.398000																								0							SO:0001587	stop_gained			ENST00000238789.5	0	1	hg19	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.798718|10.798718	0.99470|0.99470	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000381024	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.546240|.	0.19494|.	N|.	0.112908|.	.|T	.|0.79747	.|0.4499	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77713	.|-0.2485	.|3	0.36615|.	T|.	0.2|.	.|.	19.7937|19.7937	0.96469|0.96469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	814|94	.|.	ENSP00000238789:E814X|.	E|R	-|-	1|3	0|2	ATAD2B|ATAD2B	23886704|23886704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GAA|AGG		TCGA-IB-7651-01A-11D-2154-08	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	1	0	1	33	207	0	42	1	3.127592e-01	2	6	0	42	2		0	0	0	0	0	2	1	1	31	203	0	41	2								-3.224948	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
NDUFA10	4705	broad.mit.edu	37	2	240929543	240929543	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240929543T>A	ENST00000252711.2	-	9	1047	c.947A>T	c.(946-948)gAa>gTa	p.E316V	NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E346V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa			16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			AATGGTGACTTCCGGGAGAAA	0.443000																								0							SO:0001583	missense			ENST00000252711.2	1	1	hg19	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247391	0.39697	.	.	ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000448880;ENST00000307300	D;D;D;D	0.87729	-1.91;-2.06;-2.1;-2.29	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.93527	0.6866	10	0.87932	D	0	-27.0026	11.0376	0.47811	0.0:0.0:0.0:1.0	.	346;316	Q8WXC9;O95299	.;NDUAA_HUMAN	V	81;316;316;316;220;79;346	ENSP00000252711:E316V;ENSP00000385697:E316V;ENSP00000411527:E220V;ENSP00000302321:E346V	ENSP00000252711:E316V	E	-	2	0	NDUFA10	240578216	0.478000	0.25917	0.721000	0.30653	0.018000	0.09664	3.088000	0.50175	1.937000	0.56155	0.460000	0.39030	GAA		TCGA-IB-7651-01A-11D-2154-08	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	1	0	1	118	324	0	80	1	1	141	285	0	80	2		0	0	0	0	0	2	1	1	115	316	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFA10	4705	broad.mit.edu	37	2	240960761	240960761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240960761C>T	ENST00000252711.2	-	3	413	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A105T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa			16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			TAGTCGGTGGCGAGGGGCTTC	0.488000											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000252711.2	1	1	hg19	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892791	0.17613	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	T;T;T;T;T	0.77489	-1.1;-1.1;-1.06;-1.08;-1.06	4.25	1.38	0.22167	.	0.804462	0.11893	N	0.519457	T	0.61211	0.2329	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.002	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.44817	-0.9303	10	0.27785	T	0.31	-16.1577	4.4684	0.11700	0.0:0.4281:0.3652:0.2067	.	105;105;110;105	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	T	105	ENSP00000252711:A105T;ENSP00000385697:A105T;ENSP00000411527:A105T;ENSP00000302321:A105T;ENSP00000383975:A105T	ENSP00000252711:A105T	A	-	1	0	NDUFA10	240609434	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.501000	0.22578	0.496000	0.27904	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	1	0	1	73	210	0	45	1	1	196	322	0	45	2		0	0	0	0	0	2	1	1	70	204	0	43	2								-5.418392	1	1	121412	3	34	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6B2	389090	broad.mit.edu	37	2	240969775	240969775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240969775C>T	ENST00000402971.2	-	1	131	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2			15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)			AGAGCAGGTACTGCAGCCCTG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000402971.2	1	1	hg19	CCDS46559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	1	0	1	97	242	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	88	220	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYEOV2	150678	broad.mit.edu	37	2	241073376	241073376	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073376T>G	ENST00000607357.1	-	2	128	c.110A>C	c.(109-111)aAg>aCg	p.K37T	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.K68T	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2			7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)			ATGAACGGCCTTTTCATTGGC	0.483000																								0							SO:0001583	missense			ENST00000607357.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	22.4	4.280652	0.80692	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.77705	0.4170	.	.	.	0.80722	D	1	D;D	0.67145	0.968;0.996	D;D	0.75484	0.969;0.986	T	0.80828	-0.1208	8	0.87932	D	0	-11.1793	12.1591	0.54093	0.0:0.0:0.0:1.0	.	37;68	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	T	68;58	.	ENSP00000304147:K68T	K	-	2	0	MYEOV2	240722049	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.262000	0.72514	1.817000	0.53016	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	1	0	1	82	482	0	94	1	1	137	484	0	94	2		0	0	0	0	0	2	1	1	81	473	0	93	2								-20.000000	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYEOV2	150678	broad.mit.edu	37	2	241073406	241073406	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073406C>T	ENST00000607357.1	-	2	98	c.80G>A	c.(79-81)gGg>gAg	p.G27E	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.G58E	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2			7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)			CATCAAGAGCCCGGTGCTGCC	0.498000																								0							SO:0001583	missense			ENST00000607357.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.8	4.457887	0.84317	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.78842	0.4347	.	.	.	0.80722	D	1	P;D	0.89917	0.476;1.0	B;D	0.79108	0.219;0.992	T	0.82311	-0.0520	8	0.87932	D	0	-2.6468	15.1841	0.72986	0.0:1.0:0.0:0.0	.	27;58	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	E	58;48	.	ENSP00000304147:G58E	G	-	2	0	MYEOV2	240722079	0.998000	0.40836	0.998000	0.56505	0.975000	0.68041	4.459000	0.60102	2.240000	0.73641	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	0	0	0	12	522	0	80	1	9.994393e-01	22	551	0	80	2		0	0	0	0	0	2	1	9.990249e-01	11	513	0	78	2								-2.731377	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.300000	0.150000	1.000000	0.290000	0.366767	0.300000	0	2.200000e-01	4.300000e-01
ANKMY1	51281	broad.mit.edu	37	2	241468599	241468599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241468599G>A	ENST00000272972.3	-	4	755	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.P181S|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1			30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			CTTGTCATGGGCAGGTGGTCA	0.468000																								0							SO:0001583	missense			ENST00000272972.3	1	1	hg19	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.064013|3.064013	0.55432|0.55432	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000443318|ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	.|T;T;T;T	.|0.39997	.|1.05;1.05;1.05;1.05	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.075541	.|0.52532	.|D	.|0.000066	T|T	0.65770|0.65770	0.2723|0.2723	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.988;0.988	T|T	0.69308|0.69308	-0.5179|-0.5179	5|10	.|0.62326	.|D	.|0.03	-6.3456|-6.3456	16.267|16.267	0.82593|0.82593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|181;181	.|Q4ZFV3;Q9P2S6	.|.;ANKY1_HUMAN	V|S	125|181;181;270;181;181	.|ENSP00000272972:P181S;ENSP00000375847:P181S;ENSP00000385887:P270S;ENSP00000407015:P181S	.|ENSP00000272972:P181S	A|P	-|-	2|1	0|0	ANKMY1|ANKMY1	241117272|241117272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.019000|0.019000	0.09904|0.09904	4.237000|4.237000	0.58681|0.58681	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GCC|CCC		TCGA-IB-7651-01A-11D-2154-08	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	1	0	1	108	392	0	71	1	2.984028e-01	3	2	0	71	2		0	0	0	0	0	2	1	1	108	386	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKMY1	51281	broad.mit.edu	37	2	241492362	241492362	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241492362C>A	ENST00000272972.3	-	3	396	c.182G>T	c.(181-183)gGc>gTc	p.G61V	ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V|ANKMY1_ENST00000391987.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V|ANKMY1_ENST00000462004.1_5'UTR	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1			30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			GTACATGGTGCCGTAGCCTTC	0.557000																								0							SO:0001583	missense			ENST00000272972.3	0	1	hg19	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779807	0.49891	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002;ENST00000539830;ENST00000441168;ENST00000418708;ENST00000418505	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.63;0.53;0.53;0.53;0.53;0.53;0.53	4.87	4.87	0.63330	.	0.301070	0.30347	N	0.009840	T	0.81645	0.4866	H	0.96889	3.9	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.984;1.0;1.0;1.0;1.0;1.0;0.998	D	0.88007	0.2760	10	0.87932	D	0	.	15.849	0.78912	0.0:1.0:0.0:0.0	.	61;61;103;61;150;150;150;61	Q4ZFV3;C9J176;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;.;ANKY1_HUMAN	V	150;150;61;150;61;61;229;150;103;150;61;61;103;61;61	ENSP00000362415:G150V;ENSP00000384555:G150V;ENSP00000272972:G61V;ENSP00000355097:G150V;ENSP00000375847:G61V;ENSP00000362417:G61V;ENSP00000383968:G229V;ENSP00000385887:G150V;ENSP00000444707:G103V;ENSP00000385635:G150V;ENSP00000385145:G61V;ENSP00000405938:G103V;ENSP00000407015:G61V;ENSP00000412094:G61V	ENSP00000272972:G61V	G	-	2	0	ANKMY1	241141035	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	4.299000	0.59073	2.437000	0.82529	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	0	0	0	7	287	0	68	1	1.596985e-01	3	23	0	68	2		0	0	0	0	0	2	1	9.786996e-01	8	277	0	67	2								-7.817648	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.330000	0.140000	1.000000	0.290000	0.396933	0.330000	0	2.200000e-01	5.200000e-01
AQP12B	653437	broad.mit.edu	37	2	241622183	241622183	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241622183G>T	ENST00000407834.3	-	1	134	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	p.A24A(1)		13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			GGGCCTTGGAGGCCCGCCTGG	0.672000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000407834.3	1	1	hg19	CCDS46560.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1	1	0	0	16	382	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	9.999268e-01	16	375	0	72	2								-16.533740	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.530000	0.310000	1.000000	0.500000	0.574690	0.530000	0	4.000000e-01	7.200000e-01
KIF1A	547	broad.mit.edu	37	2	241656817	241656817	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241656817C>A	ENST00000320389.7	-	47	5195	c.5037G>T	c.(5035-5037)aaG>aaT	p.K1679N	KIF1A_ENST00000498729.2_Missense_Mutation_p.K1780N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			TTCTGGAGAGCTTGGACCTGC	0.662000																								0							SO:0001583	missense			ENST00000320389.7	1	1	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086776	0.76642	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.75154	-0.83;-0.91	4.47	3.57	0.40892	.	0.114821	0.56097	U	0.000025	D	0.82806	0.5117	M	0.70275	2.135	0.47214	D	0.999357	D;D	0.76494	0.984;0.999	P;D	0.78314	0.844;0.991	D	0.84048	0.0368	10	0.87932	D	0	.	9.8734	0.41189	0.0:0.8329:0.0:0.1671	.	1780;1679	F5H045;Q12756	.;KIF1A_HUMAN	N	1679;1780;1788	ENSP00000322791:K1679N;ENSP00000438388:K1780N	ENSP00000322791:K1679N	K	-	3	2	KIF1A	241305490	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.958000	0.40402	2.189000	0.69895	0.563000	0.77884	AAG		TCGA-IB-7651-01A-11D-2154-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1	106	391	0	78	0	6.041332e-01	0	9	0	78	2		0	0	0	0	0	2	1	1	105	378	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF1A	547	broad.mit.edu	37	2	241666339	241666339	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241666339C>A	ENST00000320389.7	-	37	3881	c.3723G>T	c.(3721-3723)gaG>gaT	p.E1241D	KIF1A_ENST00000498729.2_Missense_Mutation_p.E1342D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			CCCACGCAGCCTCAAATTGGT	0.527000																								0							SO:0001583	missense			ENST00000320389.7	1	1	hg19	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425037|3.425037	0.62733|0.62733	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000431776	T;T;T|.	0.75589|.	-0.81;-0.89;-0.95|.	4.62|4.62	-0.146|-0.146	0.13432|0.13432	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.78456|0.78456	2.415|2.415	0.45227|0.45227	D|D	0.998237|0.998237	B;B;P|.	0.43431|.	0.149;0.05;0.807|.	B;B;B|.	0.41946|.	0.109;0.041;0.371|.	T|T	0.67593|0.67593	-0.5631|-0.5631	10|5	0.46703|.	T|.	0.11|.	.|.	9.9148|9.9148	0.41427|0.41427	0.0:0.5485:0.0:0.4515|0.0:0.5485:0.0:0.4515	.|.	1342;1350;1241|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	D|M	1241;1342;1350;1350|174	ENSP00000322791:E1241D;ENSP00000438388:E1342D;ENSP00000384231:E1350D|.	ENSP00000322791:E1241D|.	E|R	-|-	3|2	2|0	KIF1A|KIF1A	241315012|241315012	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.756000|0.756000	0.42949|0.42949	1.795000|1.795000	0.38784|0.38784	0.056000|0.056000	0.16144|0.16144	-0.237000|-0.237000	0.12165|0.12165	GAG|AGG		TCGA-IB-7651-01A-11D-2154-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1	22	69	0	17	0	8.196741e-01	0	12	0	17	2		0	0	0	0	0	2	1	9.999995e-01	21	68	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF1A	547	broad.mit.edu	37	2	241697877	241697877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241697877C>T	ENST00000320389.7	-	25	2613	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A828T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			ACCTCTGCAGCGCGGTCGTAC	0.662000																								0							SO:0001583	missense			ENST00000320389.7	1	1	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813877	0.96975	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76968	-1.06;-1.06;-1.06	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	D	0.85128	0.5626	L	0.60455	1.87	0.80722	D	1	P;D;D	0.89917	0.879;1.0;1.0	P;D;D	0.79784	0.559;0.97;0.993	T	0.80826	-0.1209	10	0.15952	T	0.53	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	828;828;819	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	819;828;828;828	ENSP00000322791:A819T;ENSP00000438388:A828T;ENSP00000384231:A828T	ENSP00000322791:A819T	A	-	1	0	KIF1A	241346550	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	7.571000	0.82399	2.473000	0.83533	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1	11	94	0	26	0	1.842569e-01	0	7	0	26	2		0	0	0	0	0	2	1	9.986351e-01	11	94	0	26	2								-17.787170	1	1	121196	1	27	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.740000	1.000000	1.000000	0.979346	0.990000	1	9.900000e-01	1
KIF1A	547	broad.mit.edu	37	2	241709069	241709069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241709069G>A	ENST00000320389.7	-	15	1527	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R466W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			GCTTCTGTCCGCCGCAGCTTC	0.627000																								0							SO:0001583	missense			ENST00000320389.7	1	1	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851725	0.71719	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.63;-0.71;-0.78	4.39	-0.253	0.12996	.	0.200297	0.36066	U	0.002811	D	0.83225	0.5208	M	0.76170	2.325	0.53688	D	0.999971	D;D;D	0.89917	0.998;1.0;0.987	D;D;P	0.75484	0.963;0.986;0.76	D	0.84476	0.0602	10	0.87932	D	0	.	13.2152	0.59856	0.0:0.0:0.3248:0.6752	.	466;466;457	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	457;466;466;466	ENSP00000322791:R457W;ENSP00000438388:R466W;ENSP00000384231:R466W	ENSP00000322791:R457W	R	-	1	2	KIF1A	241357742	0.394000	0.25246	0.995000	0.50966	0.977000	0.68977	0.811000	0.27198	0.295000	0.22570	0.585000	0.79938	CGG		TCGA-IB-7651-01A-11D-2154-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1	28	137	0	37	0	4.150914e-01	0	8	0	37	2		0	0	0	0	0	2	1	1	28	136	0	37	2								-3.229784	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
KIF1A	547	broad.mit.edu	37	2	241737164	241737164	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241737164G>A	ENST00000320389.7	-	2	164	c.6C>T	c.(4-6)gcC>gcT	p.A2A	KIF1A_ENST00000498729.2_Silent_p.A2A	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			CCGAAGCCCCGGCCATCTCTG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000320389.7	0	1	hg19	CCDS46561.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	0	0	0	5	82	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	9.375449e-01	5	81	0	15	2								-9.065865	1	1	120618	3	31	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.810000	0.310000	1.000000	1.000000	0.778417	0.810000	0	5.100000e-01	1
AGXT	189	broad.mit.edu	37	2	241808766	241808766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241808766C>T	ENST00000307503.3	+	2	732	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase			18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CCGTGGACATCGGGGAGCGCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000307503.3	1	1	hg19	CCDS2543.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	1	0	1	60	344	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	59	324	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGXT	189	broad.mit.edu	37	2	241814608	241814608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241814608G>A	ENST00000307503.3	+	7	1150	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase			18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GGGCTGTGACGACCAGCCCAG	0.602000																								0							SO:0001583	missense			ENST00000307503.3	1	1	hg19	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296783	0.23650	.	.	ENSG00000172482	ENST00000307503	D	0.87809	-2.3	3.79	2.61	0.31194	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.360637	0.30260	N	0.010038	T	0.78444	0.4284	L	0.29908	0.895	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.68450	-0.5405	10	0.40728	T	0.16	-15.842	11.0699	0.47997	0.1204:0.0:0.8796:0.0	.	255	P21549	SPYA_HUMAN	N	255	ENSP00000302620:D255N	ENSP00000302620:D255N	D	+	1	0	AGXT	241463281	0.714000	0.27936	0.291000	0.24904	0.339000	0.28857	3.413000	0.52686	1.674000	0.50907	0.639000	0.83563	GAC		TCGA-IB-7651-01A-11D-2154-08	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	0	0	0	14	355	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	9.997331e-01	14	348	0	61	2								-3.389382	1	1	121412	4	37	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.500000	0.280000	1.000000	0.470000	0.550742	0.500000	0	3.800000e-01	7.000000e-01
C2orf54	79919	broad.mit.edu	37	2	241829557	241829557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241829557C>T	ENST00000388934.4	-	3	917	c.759G>A	c.(757-759)ctG>ctA	p.L253L	C2orf54_ENST00000402775.2_Silent_p.L85L|C2orf54_ENST00000307486.8_Silent_p.L104L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54			6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			GCCTCGTGAGCAGGTAGTCAG	0.682000																								0							SO:0001819	synonymous_variant			ENST00000388934.4	1	1	hg19	CCDS42839.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	1	0	1	54	281	0	53	1	4.441862e-01	4	5	0	53	2		0	0	0	0	0	2	1	1	53	275	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBXN2A	165324	broad.mit.edu	37	2	24194191	24194191	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24194191A>G	ENST00000309033.4	+	3	331	c.87A>G	c.(85-87)caA>caG	p.Q29Q	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000535786.1_Silent_p.Q29Q	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A			11					GTAATAATCAACAATCAAATT	0.333000																								0							SO:0001819	synonymous_variant			ENST00000309033.4	1	1	hg19	CCDS1704.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	1	0	1	153	374	0	106	1	9.992413e-01	6	23	0	106	2		0	0	0	0	0	2	1	1	150	369	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNED1	25992	broad.mit.edu	37	2	241988103	241988103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241988103G>A	ENST00000310397.8	+	10	1424	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.R475H	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1			24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)			TGTGAGTGCCGCAACGGAGGC	0.637000																								0							SO:0001583	missense			ENST00000310397.8	1	1	hg19	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626007|2.626007	0.46840|0.46840	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.|T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03	4.81|4.81	3.01|3.01	0.34805|0.34805	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.56097	.|D	.|0.000038	T|T	0.74344|0.74344	0.3704|0.3704	M|M	0.78801|0.78801	2.425|2.425	0.33775|0.33775	D|D	0.623493|0.623493	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.76984|0.76984	-0.2756|-0.2756	5|10	.|0.20046	.|T	.|0.44	.|.	10.5754|10.5754	0.45225|0.45225	0.16:0.0:0.84:0.0|0.16:0.0:0.84:0.0	.|.	.|475	.|Q8TER0	.|SNED1_HUMAN	T|H	133|475	.|ENSP00000384871:R475H;ENSP00000386007:R475H;ENSP00000308893:R475H;ENSP00000342992:R475H	.|ENSP00000308893:R475H	A|R	+|+	1|2	0|0	SNED1|SNED1	241636776|241636776	0.913000|0.913000	0.31002|0.31002	0.525000|0.525000	0.27900|0.27900	0.212000|0.212000	0.24457|0.24457	1.302000|1.302000	0.33459|0.33459	0.455000|0.455000	0.26910|0.26910	0.563000|0.563000	0.77884|0.77884	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	1	0	1	29	81	0	13	1	9.999923e-01	9	50	0	13	2		0	0	0	0	0	2	1	1	29	78	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PASK	23178	broad.mit.edu	37	2	242051830	242051830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242051830G>A	ENST00000405260.1	-	15	4056	c.3358C>T	c.(3358-3360)Cgc>Tgc	p.R1120C	PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000539818.1_Missense_Mutation_p.R904C|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C|PASK_ENST00000234040.4_Missense_Mutation_p.R1120C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	p.R1120C(2)		53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			TCCTTCAAGCGCAGGTATCCC	0.458000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000405260.1	1	1	hg19	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158454	0.57368	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236607	0.29730	N	0.011349	T	0.73776	0.3630	L	0.37697	1.125	0.47737	D	0.999505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.979;0.979;0.991	T	0.75121	-0.3429	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	1085;934;1127;1120	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	C	1120;934;1120;1127;904	ENSP00000234040:R1120C;ENSP00000441374:R934C;ENSP00000384016:R1120C;ENSP00000351475:R1127C;ENSP00000443083:R904C	ENSP00000234040:R1120C	R	-	1	0	PASK	241700503	1.000000	0.71417	0.926000	0.36857	0.043000	0.13939	7.039000	0.76544	2.744000	0.94065	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	1	57	162	0	38	1	8.838429e-01	2	11	0	38	2		0	0	0	0	0	2	1	1	55	160	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PASK	23178	broad.mit.edu	37	2	242062165	242062165	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242062165G>A	ENST00000405260.1	-	12	3752	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	PASK_ENST00000403638.3_Silent_p.D1018D|PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000539818.1_Silent_p.D802D|PASK_ENST00000358649.4_Silent_p.D1018D|PASK_ENST00000234040.4_Silent_p.D1018D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase			53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			TTTTTTCCTTGTCCACAGCAG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000405260.1	1	1	hg19	CCDS2545.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	0	51	597	0	118	0	2.795150e-01	0	13	0	118	2		0	0	0	0	0	2	1	1	48	584	0	116	2								-12.405900	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.750000	1.000000	1.000000	0.954525	0.990000	1	8.700000e-01	1
PASK	23178	broad.mit.edu	37	2	242079416	242079416	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242079416G>A	ENST00000405260.1	-	4	1182	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PASK_ENST00000403638.3_Silent_p.L162L|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Silent_p.L162L|PASK_ENST00000234040.4_Silent_p.L162L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase			53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			TGGCCAATCAGGTCCTGGCTG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000405260.1	1	1	hg19	CCDS2545.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	1	38	174	0	35	1	5.050897e-01	2	7	0	35	2		0	0	0	0	0	2	1	1	38	172	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PASK	23178	broad.mit.edu	37	2	242080137	242080137	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242080137T>C	ENST00000405260.1	-	3	926	c.228A>G	c.(226-228)tcA>tcG	p.S76S	PASK_ENST00000403638.3_Silent_p.S76S|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Silent_p.S76S|PASK_ENST00000234040.4_Silent_p.S76S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase			53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			GGGCAGCCAGTGATGATAGAC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000405260.1	1	1	hg19	CCDS2545.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	1	58	243	0	37	1	3.317632e-01	2	4	0	37	2		0	0	0	0	0	2	1	1	57	241	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R7	5510	broad.mit.edu	37	2	242122122	242122122	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242122122C>A	ENST00000234038.6	+	10	1441	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7			23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)			AGCCAGGAGCCTGGAGACAGT	0.597000													NSCLC(62;446 1299 5417 11238 27640)											0							SO:0001583	missense			ENST00000234038.6	1	1	hg19	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.410388|4.410388	0.83340|0.83340	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038|ENST00000415769	T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.81394|0.81394	0.4813|0.4813	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.80764|.	0.992;0.982;0.994|.	D|D	0.85414|0.85414	0.1139|0.1139	10|5	0.66056|.	D|.	0.02|.	-9.5125|-9.5125	11.7306|11.7306	0.51735|0.51735	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	264;280;323|.	C9J177;Q15435-2;Q15435|.	.;.;PP1R7_HUMAN|.	M|H	264;323;280;323|44	ENSP00000412092:L264M;ENSP00000385657:L323M;ENSP00000272983:L280M;ENSP00000234038:L323M|.	ENSP00000234038:L323M|.	L|P	+|+	1|2	2|0	PPP1R7|PPP1R7	241770795|241770795	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.917000|0.917000	0.54804|0.54804	4.465000|4.465000	0.60141|0.60141	2.417000|2.417000	0.82017|0.82017	0.467000|0.467000	0.42956|0.42956	CTG|CCT		TCGA-IB-7651-01A-11D-2154-08	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	1	0	0	17	414	0	77	1	9.987260e-01	6	259	0	77	2		0	0	0	0	0	2	1	9.999627e-01	17	408	0	77	2								-16.723420	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.520000	0.300000	1.000000	0.490000	0.564401	0.520000	0	4.000000e-01	7.000000e-01
ANO7	50636	broad.mit.edu	37	2	242149899	242149899	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242149899G>A	ENST00000274979.8	+	15	1740	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7			32					CGCATCGCCAGCCTCACGGGG	0.647000																								0							SO:0001583	missense			ENST00000274979.8	1	1	hg19	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325705	0.24080	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.65364	-0.15;-0.15	3.49	-0.713	0.11223	.	0.271180	0.33534	N	0.004817	T	0.45915	0.1366	L	0.37897	1.145	0.28974	N	0.889087	B	0.22080	0.064	B	0.29942	0.109	T	0.36383	-0.9750	10	0.16420	T	0.52	.	8.2936	0.31971	0.5136:0.0:0.4864:0.0	.	546	Q6IWH7	ANO7_HUMAN	N	546;545	ENSP00000274979:S546N;ENSP00000385418:S545N	ENSP00000274979:S546N	S	+	2	0	ANO7	241798572	0.520000	0.26250	0.053000	0.19242	0.273000	0.26683	0.728000	0.26013	-0.134000	0.11516	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	1	0	1	83	388	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	82	384	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO7	50636	broad.mit.edu	37	2	242155543	242155543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242155543G>A	ENST00000274979.8	+	19	2127	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7			32					TTCCGGCTTCGCTCCAAGAAG	0.577000																								0							SO:0001583	missense			ENST00000274979.8	1	1	hg19	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067185	0.20067	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64260	-0.09;-0.09	3.2	-1.18	0.09617	.	.	.	.	.	T	0.53238	0.1784	M	0.66506	2.035	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47522	-0.9111	9	0.44086	T	0.13	.	4.0495	0.09788	0.3427:0.343:0.3142:0.0	.	675	Q6IWH7	ANO7_HUMAN	H	675;674	ENSP00000274979:R675H;ENSP00000385418:R674H	ENSP00000274979:R675H	R	+	2	0	ANO7	241804216	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	-1.133000	0.03232	-0.258000	0.09446	-0.363000	0.07495	CGC		TCGA-IB-7651-01A-11D-2154-08	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	1	0	1	89	397	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	89	392	0	68	2								-20.000000	1	1	121382	3	34	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDLBP	3069	broad.mit.edu	37	2	242173318	242173318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242173318C>T	ENST00000391975.1	-	24	3432	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	p.G1069W(1)		44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			CCCTTTCTCCCGATAATCTTG	0.473000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000391975.1	1	1	hg19	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902790|3.902790	0.72754|0.72754	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41|.	5.56|5.56	5.56|5.56	0.83823|0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87233|0.87233	0.6126|0.6126	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90091|0.90091	0.4177|0.4177	10|5	0.87932|.	D|.	0|.	-32.9522|-32.9522	19.5308|19.5308	0.95228|0.95228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;1069|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|Q	1069;1069;1069;1036|877	ENSP00000375836:G1069R;ENSP00000375837:G1069R;ENSP00000312042:G1069R;ENSP00000399139:G1036R|.	ENSP00000312042:G1069R|.	G|R	-|-	1|2	0|0	HDLBP|HDLBP	241821991|241821991	1.000000|1.000000	0.71417|0.71417	0.140000|0.140000	0.22221|0.22221	0.229000|0.229000	0.25112|0.25112	7.721000|7.721000	0.84768|0.84768	2.630000|2.630000	0.89119|0.89119	0.563000|0.563000	0.77884|0.77884	GGG|CGG		TCGA-IB-7651-01A-11D-2154-08	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	0	0	0	13	472	0	99	1	1	86	1652	0	99	2		0	0	0	0	0	2	1	9.994700e-01	13	461	0	99	2								-2.177644	0	1	121412	1	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.360000	0.190000	1.000000	0.340000	0.418034	0.360000	0	2.600000e-01	5.000000e-01
HDLBP	3069	broad.mit.edu	37	2	242189280	242189280	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242189280C>A	ENST00000391975.1	-	12	1715	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein			44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			GCTCCAGCAGCTCTCGCTTGG	0.597000																								0							SO:0001583	missense			ENST00000391975.1	1	1	hg19	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.99|19.99	3.929068|3.929068	0.73327|0.73327	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87	5.76|5.76	0.977|0.977	0.19733|0.19733	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47266|0.47266	0.1436|0.1436	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28378	.|0.032;0.209	.|B;B	.|0.40477	.|0.33;0.248	T|T	0.45891|0.45891	-0.9230|-0.9230	5|10	.|0.56958	.|D	.|0.05	-44.6837|-44.6837	10.083|10.083	0.42401|0.42401	0.0:0.6771:0.0:0.3229|0.0:0.6771:0.0:0.3229	.|.	.|463;496	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	S|D	305|496;496;496;463	.|ENSP00000375836:E496D;ENSP00000375837:E496D;ENSP00000312042:E496D;ENSP00000399139:E463D	.|ENSP00000312042:E496D	A|E	-|-	1|3	0|2	HDLBP|HDLBP	241837953|241837953	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.971000|0.971000	0.66376|0.66376	2.634000|2.634000	0.46528|0.46528	-0.029000|-0.029000	0.13827|0.13827	0.655000|0.655000	0.94253|0.94253	GCT|GAG		TCGA-IB-7651-01A-11D-2154-08	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	1	0	1	113	310	0	71	1	1	494	992	0	71	2		0	0	0	0	0	2	1	1	112	307	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDLBP	3069	broad.mit.edu	37	2	242192398	242192398	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242192398T>C	ENST00000391975.1	-	11	1573	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R|HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R|HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000476807.1_5'Flank	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein			44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			CCCAATGAGGTGCCTGTGGAA	0.572000																								0							SO:0001583	missense			ENST00000391975.1	1	1	hg19	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.0|28.0	4.885819|4.885819	0.91814|0.91814	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141	T;T;T;T|.	0.25579|.	1.79;1.79;1.79;1.79|.	5.49|5.49	5.49|5.49	0.81192|0.81192	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59211|0.59211	0.2177|0.2177	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.81914|.	0.995;0.988|.	T|T	0.56177|0.56177	-0.8022|-0.8022	10|5	0.72032|.	D|.	0.01|.	-31.8082|-31.8082	14.4589|14.4589	0.67435|0.67435	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	416;449|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|A	449;449;449;416|327	ENSP00000375836:H449R;ENSP00000375837:H449R;ENSP00000312042:H449R;ENSP00000399139:H416R|.	ENSP00000312042:H449R|.	H|T	-|-	2|1	0|0	HDLBP|HDLBP	241841071|241841071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.247000|7.247000	0.78257|0.78257	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CAC|ACC		TCGA-IB-7651-01A-11D-2154-08	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	1	0	1	128	353	0	97	1	1	441	826	0	97	2		0	0	0	0	0	2	1	1	128	349	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEPT2	4735	broad.mit.edu	37	2	242282453	242282453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242282453C>A	ENST00000391973.2	+	8	1169	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2			12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			TATCACTTACCTGATGCAGAA	0.348000																								0							SO:0001583	missense			ENST00000391973.2	1	1	hg19	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261942	0.95368	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.79554	0.51;0.51;0.51;0.51;0.51;-1.28;0.51;-1.28	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.975;0.985	D	0.95128	0.8252	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	249;174;214	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	H	214;174;214;214;224;174;214;249;69	ENSP00000375834:P214H;ENSP00000397195:P174H;ENSP00000353157:P214H;ENSP00000375832:P214H;ENSP00000385109:P224H;ENSP00000384525:P174H;ENSP00000385172:P214H;ENSP00000408296:P69H	ENSP00000353157:P214H	P	+	2	0	SEPT2	241931126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.782000	0.95742	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	1	0	1	86	477	0	135	1	1	158	689	0	135	2		0	0	0	0	0	2	1	1	85	461	0	135	2								-2.880416	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFSD2B	388931	broad.mit.edu	37	2	24236237	24236237	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24236237C>A	ENST00000406420.3	+	2	195	c.179C>A	c.(178-180)gCc>gAc	p.A60D	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A60D	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B			10					GCCTCCAGCGCCACAGCCTTT	0.557000																								0							SO:0001583	missense			ENST00000406420.3	1	1	hg19	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510031	0.85282	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.81739	-1.53;-1.53	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	U	0.000000	D	0.90055	0.6894	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91059	0.4884	10	0.87932	D	0	-23.2717	16.9131	0.86144	0.0:1.0:0.0:0.0	.	60	A6NFX1	MFS2B_HUMAN	D	60	ENSP00000385527:A60D;ENSP00000342501:A60D	ENSP00000342501:A60D	A	+	2	0	MFSD2B	24089741	1.000000	0.71417	0.990000	0.47175	0.674000	0.39518	6.388000	0.73195	2.677000	0.91161	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	0	0	1	23	67	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.999997e-01	20	67	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFSD2B	388931	broad.mit.edu	37	2	24239035	24239035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239035G>A	ENST00000406420.3	+	3	248	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A78T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B			10					GATCCCTGCCGCCCAGGTGTC	0.612000																								0							SO:0001583	missense			ENST00000406420.3	1	1	hg19	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152068	0.38021	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.89617	-2.54;-2.54	5.42	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);	1.084960	0.07103	U	0.840727	D	0.83459	0.5259	L	0.34521	1.04	0.27780	N	0.943183	B	0.32829	0.386	B	0.26202	0.067	T	0.74890	-0.3510	10	0.66056	D	0.02	-23.4313	10.9067	0.47084	0.0:0.0:0.7049:0.2951	.	78	A6NFX1	MFS2B_HUMAN	T	78	ENSP00000385527:A78T;ENSP00000342501:A78T	ENSP00000342501:A78T	A	+	1	0	MFSD2B	24092539	0.956000	0.32656	1.000000	0.80357	0.129000	0.20672	2.539000	0.45718	2.721000	0.93114	0.511000	0.50034	GCC		TCGA-IB-7651-01A-11D-2154-08	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	1	0	1	41	286	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	39	282	0	58	2								-2.841774	1	1	120872	2	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999928	0.990000	1	9.900000e-01	1
MFSD2B	388931	broad.mit.edu	37	2	24239805	24239805	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239805G>A	ENST00000406420.3	+	4	454	c.438G>A	c.(436-438)acG>acA	p.T146T	MFSD2B_ENST00000338315.4_Silent_p.T146T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B			10					TCTGGTACACGACTTTCTACT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000406420.3	1	1	hg19	CCDS46228.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	1	0	1	55	312	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	54	309	0	63	2								-20.000000	1	0	120948	2	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FARP2	9855	broad.mit.edu	37	2	242415374	242415374	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242415374G>A	ENST00000264042.3	+	19	2404	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D	MIR3133_ENST00000583157.1_RNA	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2			43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)			GACCTGGTGGGCATAGAGAAC	0.498000																								0							SO:0001583	missense			ENST00000264042.3	1	1	hg19	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025654	0.75390	.	.	ENSG00000006607	ENST00000264042	T	0.51574	0.7	5.3	5.3	0.74995	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	18.9488	0.92632	0.0:0.0:1.0:0.0	.	745	O94887	FARP2_HUMAN	D	745	ENSP00000264042:G745D	ENSP00000264042:G745D	G	+	2	0	FARP2	242064047	1.000000	0.71417	0.629000	0.29254	0.404000	0.30871	9.081000	0.94049	2.485000	0.83878	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1	1	0	1	35	205	0	49	1	8.297181e-01	6	15	0	49	2		0	0	0	0	0	2	1	1	32	198	0	49	2								-17.783970	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
STK25	10494	broad.mit.edu	37	2	242438508	242438508	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242438508C>T	ENST00000316586.4	-	7	1016	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	STK25_ENST00000405585.1_Missense_Mutation_p.V146I|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25			10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)			AGGAACAGGACGCGCATGGGG	0.612000													NSCLC(99;1100 1566 7679 28647 48345)											0							SO:0001583	missense			ENST00000316586.4	1	1	hg19	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987877	0.74589	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	N	0.10629	0.01	0.80722	D	1	D;D;D;D	0.71674	0.998;0.979;0.979;0.998	D;D;D;D	0.69824	0.966;0.934;0.935;0.935	T	0.73487	-0.3967	10	0.87932	D	0	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	149;146;223;129	B4DVS7;A8K6Z3;O00506;B4E185	.;.;STK25_HUMAN;.	I	223;223;223;146;129;146;129;129;129;127;129;129	ENSP00000325748:V223I;ENSP00000384162:V223I;ENSP00000385687:V223I;ENSP00000384444:V146I;ENSP00000385541:V146I;ENSP00000444886:V129I;ENSP00000446008:V129I;ENSP00000399212:V129I;ENSP00000417020:V127I;ENSP00000403607:V129I;ENSP00000395104:V129I	ENSP00000325748:V223I	V	-	1	0	STK25	242087181	1.000000	0.71417	0.624000	0.29186	0.046000	0.14306	7.583000	0.82559	2.637000	0.89404	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	1	0	1	83	270	0	45	1	1	148	245	0	45	2		0	0	0	0	0	2	1	1	80	264	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK25	10494	broad.mit.edu	37	2	242441007	242441007	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242441007C>T	ENST00000316586.4	-	3	496	c.147G>A	c.(145-147)aaG>aaA	p.K49K	STK25_ENST00000405585.1_Intron|STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25			10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)			GGTCGATGATCTTGATGGCCA	0.567000													NSCLC(99;1100 1566 7679 28647 48345)											0							SO:0001819	synonymous_variant			ENST00000316586.4	1	1	hg19	CCDS2549.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	1	0	0	79	335	0	61	1	1	49	237	0	61	2		0	0	0	0	0	2	1	1	78	333	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THAP4	51078	broad.mit.edu	37	2	242572459	242572459	+	Silent	SNP	G	G	A	rs149294304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572459G>A	ENST00000407315.1	-	2	1544	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4			9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)			TCTTCAGCTCGCCGTTCTTCT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000407315.1	1	1	hg19	CCDS2551.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	1	0	1	40	165	0	48	1	1	68	235	0	48	2		0	0	0	0	0	2	1	1	38	163	0	47	2								-20.000000	1	1	121410	1	30	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THAP4	51078	broad.mit.edu	37	2	242572744	242572744	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572744G>A	ENST00000407315.1	-	2	1259	c.828C>T	c.(826-828)ccC>ccT	p.P276P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4			9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)			GGCCCTTGTCGGGTCCCAGGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000407315.1	1	1	hg19	CCDS2551.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	1	0	1	192	553	0	99	1	1	112	172	0	99	2		0	0	0	0	0	2	1	1	189	544	0	98	2								-6.609832	1	1	121412	16	45	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THAP4	51078	broad.mit.edu	37	2	242573285	242573285	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242573285C>T	ENST00000407315.1	-	2	718	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4			9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)			GCGGCCATGGCCTCCAGCCCC	0.647000																								0							SO:0001583	missense			ENST00000407315.1	1	1	hg19	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491997	0.26774	.	.	ENSG00000176946	ENST00000407315	D	0.95518	-3.73	4.93	4.02	0.46733	.	4.361770	0.00654	N	0.000576	D	0.90854	0.7127	N	0.19112	0.55	0.20926	N	0.999825	B	0.10296	0.003	B	0.08055	0.003	T	0.80037	-0.1550	10	0.27785	T	0.31	-16.158	5.5193	0.16923	0.0:0.6659:0.2012:0.1329	.	96	Q8WY91	THAP4_HUMAN	D	96	ENSP00000385006:G96D	ENSP00000385006:G96D	G	-	2	0	THAP4	242221958	0.964000	0.33143	0.122000	0.21767	0.989000	0.77384	1.921000	0.40035	1.142000	0.42291	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	1	0	1	238	598	0	140	1	1	92	123	0	140	2		0	0	0	0	0	2	1	1	238	588	0	137	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf44	80304	broad.mit.edu	37	2	24261218	24261218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24261218C>A	ENST00000295148.4	-	2	1204	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	C2orf44_ENST00000406895.3_Nonsense_Mutation_p.E383*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44		C2orf44/ALK(2)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TCAGTGTTCTCTAATCGAATT	0.373000			T	ALK	NSCLC										Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0							SO:0001587	stop_gained			ENST00000295148.4	0	1	hg19	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728379	0.89390	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	.	.	.	5.38	5.38	0.77491	.	0.101360	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.6847	19.5062	0.95116	0.0:1.0:0.0:0.0	.	.	.	.	X	383	.	ENSP00000295148:E383X	E	-	1	0	C2orf44	24114722	1.000000	0.71417	0.882000	0.34594	0.688000	0.40055	4.782000	0.62396	2.701000	0.92244	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	1	0	1	127	576	0	102	0	9.825671e-01	1	30	0	102	2		0	0	0	0	0	2	1	1	123	567	0	101	2								-2.968557	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ING5	84289	broad.mit.edu	37	2	242648728	242648728	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242648728G>T	ENST00000313552.6	+	3	233	c.207G>T	c.(205-207)caG>caT	p.Q69H	ING5_ENST00000406941.1_Missense_Mutation_p.Q69H|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5			3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			AGAAGATCCAGAACGCCTACA	0.577000																								0							SO:0001583	missense			ENST00000313552.6	1	1	hg19	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497018	0.85069	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.74	5.74	0.90152	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.968	D	0.87282	0.2293	9	0.72032	D	0.01	-2.5677	19.9111	0.97025	0.0:0.0:1.0:0.0	.	69;69	Q8WYH8;B7Z6R2	ING5_HUMAN;.	H	69	.	ENSP00000322142:Q69H	Q	+	3	2	ING5	242297401	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.745000	0.55119	2.722000	0.93159	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	1	0	1	228	596	0	159	1	9.997162e-01	9	25	0	159	2		0	0	0	0	0	2	1	1	223	585	0	159	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ING5	84289	broad.mit.edu	37	2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5			3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			CTCCGGAGGGCGAGGGTTAAA	0.398000																								0							SO:0001587	stop_gained			ENST00000313552.6	0	1	hg19	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009933	0.75046	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.83	3.83	0.44106	.	0.118397	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-17.5543	16.4987	0.84252	0.2498:0.7502:0.0:0.0	.	.	.	.	X	126	.	ENSP00000322142:R126X	R	+	1	2	ING5	242299564	0.956000	0.32656	0.056000	0.19401	0.828000	0.46876	2.195000	0.42677	1.460000	0.47911	-0.181000	0.13052	CGA		TCGA-IB-7651-01A-11D-2154-08	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	1	0	1	119	442	0	146	0	9.920536e-01	0	30	0	146	2		0	0	0	0	0	2	1	1	116	427	0	146	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
D2HGDH	728294	broad.mit.edu	37	2	242681954	242681954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242681954G>A	ENST00000321264.4	+	4	664	c.455G>A	c.(454-456)cGc>cAc	p.R152H	D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase			16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			TCCACTGCCCGCATGAACCGG	0.642000																								0							SO:0001583	missense			ENST00000321264.4	1	1	hg19	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196304	0.38806	2.27E-4	0.0	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.01	5.06	3.89	0.44902	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.069723	0.64402	D	0.000014	D	0.94515	0.8234	M	0.75264	2.295	0.35735	D	0.818244	P	0.36144	0.539	B	0.32762	0.152	D	0.93942	0.7224	10	0.37606	T	0.19	.	12.0727	0.53626	0.0:0.0:0.1466:0.8534	.	152	Q8N465	D2HDH_HUMAN	H	152;152;18;152;36;22	ENSP00000442796:R152H;ENSP00000315351:R152H;ENSP00000384723:R18H;ENSP00000339536:R152H;ENSP00000412511:R36H;ENSP00000404596:R22H	ENSP00000315351:R152H	R	+	2	0	D2HGDH	242330627	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	4.589000	0.61006	0.776000	0.33473	-0.425000	0.05940	CGC		TCGA-IB-7651-01A-11D-2154-08	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	1	0	1	51	260	0	53	1	9.989325e-01	14	41	0	53	2		0	0	0	0	0	2	1	1	50	256	0	53	2								-3.044101	1	1	121412	5	43	1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
D2HGDH	728294	broad.mit.edu	37	2	242689694	242689694	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242689694G>A	ENST00000321264.4	+	7	1191	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.A194T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase			16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			TCTCCACCTGGCCAGCCCGGT	0.632000																								0							SO:0001583	missense			ENST00000321264.4	0	1	hg19	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.019|6.019	0.371815|0.371815	0.11409|0.11409	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000321264;ENST00000403782|ENST00000432449	T;T|.	0.78481|.	-1.18;-1.18|.	4.63|4.63	-1.65|-1.65	0.08291|0.08291	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	0.870325|.	0.10087|.	N|.	0.717627|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.01168|0.01168	-0.975|-0.975	0.33050|0.33050	D|D	0.532612|0.532612	B|.	0.02656|.	0.0|.	B|.	0.11329|.	0.006|.	T|T	0.35450|0.35450	-0.9788|-0.9788	10|5	0.16420|.	T|.	0.52|.	-1.4511|-1.4511	4.8409|4.8409	0.13489|0.13489	0.4608:0.0:0.1949:0.3443|0.4608:0.0:0.1949:0.3443	.|.	328|.	Q8N465|.	D2HDH_HUMAN|.	T|D	328;194|81	ENSP00000315351:A328T;ENSP00000384723:A194T|.	ENSP00000315351:A328T|.	A|G	+|+	1|2	0|0	D2HGDH|D2HGDH	242338367|242338367	0.000000|0.000000	0.05858|0.05858	0.810000|0.810000	0.32431|0.32431	0.501000|0.501000	0.33797|0.33797	-1.055000|-1.055000	0.03493|0.03493	-0.177000|-0.177000	0.10690|0.10690	0.491000|0.491000	0.48974|0.48974	GCC|GGC		TCGA-IB-7651-01A-11D-2154-08	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	0	0	0	9	432	0	63	1	4.070455e-01	2	61	0	63	2		0	0	0	0	0	2	1	9.935610e-01	7	423	0	63	2								-2.842951	1	0	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.280000	0.130000	1.000000	0.260000	0.347170	0.280000	0	1.900000e-01	4.200000e-01
D2HGDH	728294	broad.mit.edu	37	2	242695421	242695421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242695421G>A	ENST00000321264.4	+	9	1507	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	D2HGDH_ENST00000486953.1_3'UTR|AC114730.7_ENST00000417267.1_RNA|D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase			16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			GTGGGCTATGGCCACCTTGGT	0.701000																								0							SO:0001583	missense			ENST00000321264.4	1	1	hg19	CCDS33426.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.8|24.8|24.8	4.572822|4.572822|4.572822	0.86542|0.86542|0.86542	.|.|.	.|.|.	ENSG00000180902|ENSG00000180902|ENSG00000180902	ENST00000445308|ENST00000321264;ENST00000403782;ENST00000542211|ENST00000432449	.|D;D|.	.|0.86694|.	.|-2.16;-2.16|.	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	.|0.125811|.	.|0.53938|.	.|D|.	.|0.000052|.	D|D|.	0.90345|0.90345|.	0.6979|0.6979|.	H|H|H	0.97732|0.97732|0.97732	4.065|4.065|4.065	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	D|D|.	0.93703|0.93703|.	0.7017|0.7017|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	0.004|0.004|0.004	18.9757|18.9757|18.9757	0.92735|0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|433|.	.|Q8N465|.	.|D2HDH_HUMAN|.	T|D|X	232|433;299;53|186	.|ENSP00000315351:G433D;ENSP00000384723:G299D|.	.|ENSP00000315351:G433D|.	A|G|W	+|+|+	1|2|3	0|0|0	D2HGDH|D2HGDH|D2HGDH	242344094|242344094|242344094	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.464000|0.464000|0.464000	0.32679|0.32679|0.32679	8.597000|8.597000|8.597000	0.90847|0.90847|0.90847	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	GCC|GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	1	0	0	72	337	0	47	1	9.917690e-01	4	33	0	47	2		0	0	0	0	0	2	1	1	72	332	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEU4	129807	broad.mit.edu	37	2	242755732	242755732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242755732G>T	ENST00000391969.2	+	3	762	c.51G>T	c.(49-51)agG>agT	p.R17S	NEU4_ENST00000405370.1_Missense_Mutation_p.R17S|NEU4_ENST00000407683.1_Missense_Mutation_p.R17S|NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|AC114730.3_ENST00000420272.2_RNA	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4			15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			AGCGGGAGAGGACGGGCCTGA	0.692000																								0							SO:0001583	missense			ENST00000391969.2	1	1	hg19	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.375|0.375	-0.932103|-0.932103	0.02359|0.02359	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000472793|ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	.|T;D;T;T;T;T;T;D;D;T;T	.|0.83992	.|3.12;-1.79;3.12;3.12;3.12;3.12;3.12;-1.79;-1.79;3.12;3.12	3.76|3.76	-0.00139|-0.00139	0.14034|0.14034	.|Neuraminidase (2);	.|0.632273	.|0.15467	.|U	.|0.260836	T|T	0.60958|0.60958	0.2309|0.2309	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25169	.|0.073;0.119;0.069	.|B;B;B	.|0.20955	.|0.011;0.026;0.032	T|T	0.44862|0.44862	-0.9300|-0.9300	6|10	0.66056|0.13108	D|T	0.02|0.6	-18.7405|-18.7405	4.3633|4.3633	0.11213|0.11213	0.4027:0.398:0.1992:0.0|0.4027:0.398:0.1992:0.0	.|.	.|29;29;17	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	Y|S	41|17;17;17;17;29;17;30;17;29;17;58	.|ENSP00000385402:R17S;ENSP00000397167:R17S;ENSP00000384804:R17S;ENSP00000397860:R17S;ENSP00000385149:R29S;ENSP00000375830:R17S;ENSP00000320318:R30S;ENSP00000398571:R17S;ENSP00000406678:R29S;ENSP00000388707:R17S;ENSP00000396197:R58S	ENSP00000441629:D41Y|ENSP00000320318:R30S	D|R	+|+	1|3	0|2	NEU4|NEU4	242404405|242404405	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.152000|0.152000	0.21847|0.21847	-0.128000|-0.128000	0.10531|0.10531	0.100000|0.100000	0.17581|0.17581	0.443000|0.443000	0.29094|0.29094	GAC|AGG		TCGA-IB-7651-01A-11D-2154-08	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	1	0	1	63	241	0	32	0	0	0	1	0	32	2		0	0	0	0	0	2	1	1	62	238	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDCD1	5133	broad.mit.edu	37	2	242794943	242794943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242794943G>A	ENST00000334409.5	-	2	335	c.266C>T	c.(265-267)cCc>cTc	p.P89L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1			8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)			GTCCTGGCCGGGCTGGCTGCG	0.642000																								0							SO:0001583	missense			ENST00000334409.5	1	1	hg19	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.439872	0.43326	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.17854	2.25	3.01	-0.0193	0.13960	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.180690	0.06298	N	0.700368	T	0.27900	0.0687	M	0.79805	2.47	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.50708	0.648;0.648	T	0.19484	-1.0304	10	0.66056	D	0.02	-2.1115	1.7204	0.02910	0.1259:0.2057:0.4576:0.2109	.	89;89	Q8IX89;Q15116	.;PDCD1_HUMAN	L	89	ENSP00000335062:P89L	ENSP00000335062:P89L	P	-	2	0	PDCD1	242443616	0.041000	0.20044	0.001000	0.08648	0.685000	0.39939	0.153000	0.16323	-0.013000	0.14199	0.457000	0.33378	CCC		TCGA-IB-7651-01A-11D-2154-08	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	1	0	1	37	218	0	28	0	9.032919e-01	0	26	0	28	2		0	0	0	0	0	2	1	1	39	216	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.111737	1	0.170000	2.060000	2.283735e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ITSN2	50618	broad.mit.edu	37	2	24471562	24471562	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24471562G>A	ENST00000355123.4	-	27	3667	c.3224C>T	c.(3223-3225)gCa>gTa	p.A1075V	ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V|ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2			61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTGTCCTGGTGCAAGGCTAAG	0.343000																								0							SO:0001583	missense			ENST00000355123.4	1	1	hg19	CCDS1710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.559103|3.559103	0.65538|0.65538	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921|ENST00000416160	T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Src homology-3 domain (4);|.	0.000000|.	0.31721|.	U|.	0.007178|.	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.29908|0.29908	0.895|0.895	0.46631|0.46631	D|D	0.999137|0.999137	P;P;P|.	0.47484|.	0.873;0.873;0.896|.	P;P;P|.	0.48952|.	0.461;0.461;0.596|.	T|T	0.50972|0.50972	-0.8764|-0.8764	10|5	0.62326|.	D|.	0.03|.	.|.	20.3312|20.3312	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1075;1048;1075|.	Q9NZM3-3;Q9NZM3-2;Q9NZM3|.	.;.;ITSN2_HUMAN|.	V|Y	1048;1075;1048;1075|3	ENSP00000354561:A1048V;ENSP00000347244:A1075V;ENSP00000370250:A1048V;ENSP00000384499:A1075V|.	ENSP00000347244:A1075V|.	A|H	-|-	2|1	0|0	ITSN2|ITSN2	24325066|24325066	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.334000|4.334000	0.59291|0.59291	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAC		TCGA-IB-7651-01A-11D-2154-08	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	1	0	1	29	247	0	37	1	9.905520e-01	11	54	0	37	2		0	0	0	0	0	2	1	1	30	247	0	36	2								-20.000000	1	1	121386	1	27	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.930000	1.000000	1.000000	0.995970	0.990000	1	9.900000e-01	1
ITSN2	50618	broad.mit.edu	37	2	24484038	24484038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24484038C>T	ENST00000355123.4	-	22	3062	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2			61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				ATTTTTTCTGCCATGATGTAT	0.368000																								0							SO:0001587	stop_gained			ENST00000355123.4	0	1	hg19	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	42	9.288940	0.99127	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	5.27	5.27	0.74061	.	0.000000	0.35870	U	0.002921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.2658	0.93984	0.0:1.0:0.0:0.0	.	.	.	.	X	846;873;846;873	.	ENSP00000347244:W873X	W	-	3	0	ITSN2	24337542	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.841000	0.55850	2.650000	0.89964	0.555000	0.69702	TGG		TCGA-IB-7651-01A-11D-2154-08	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	1	0	1	35	231	0	59	1	9.980433e-01	3	63	0	59	2		0	0	0	0	0	2	1	1	35	230	0	58	2								-16.395180	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999932	0.990000	1	9.900000e-01	1
ITSN2	50618	broad.mit.edu	37	2	24533163	24533163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24533163C>A	ENST00000355123.4	-	7	1086	c.643G>T	c.(643-645)Gga>Tga	p.G215*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000407704.1_5'Flank	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2			61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTACTAGATCCTAAATCAATC	0.343000																								0							SO:0001587	stop_gained			ENST00000355123.4	0	1	hg19	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	35	5.438748	0.96168	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	4.97	4.09	0.47781	.	0.000000	0.32372	U	0.006187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.4601	0.61223	0.1566:0.8434:0.0:0.0	.	.	.	.	X	215;215;215;214;215;215	.	ENSP00000347244:G215X	G	-	1	0	ITSN2	24386667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.378000	0.66190	1.207000	0.43291	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	1	0	1	221	1295	0	360	1	9.980222e-01	2	53	0	360	2		0	0	0	0	0	2	1	1	215	1274	0	358	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA1	8648	broad.mit.edu	37	2	24905930	24905930	+	Silent	SNP	C	C	T	rs143048201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24905930C>T	ENST00000406961.1	+	8	1117	c.465C>T	c.(463-465)agC>agT	p.S155S	NCOA1_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000405141.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1		PAX3/NCOA1(8)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TGAATACGAGCGTCTACAGCA	0.368000			T	PAX3	alveolar rhadomyosarcoma										Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0							SO:0001819	synonymous_variant			ENST00000406961.1	1	1	hg19	CCDS1712.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	1	0	1	55	330	0	50	1	9.998688e-01	10	71	0	50	2		0	0	0	0	0	2	1	1	54	324	0	50	2								-19.999990	1	1	121412	6	39	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA1	8648	broad.mit.edu	37	2	24952420	24952420	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24952420G>A	ENST00000406961.1	+	17	3589	c.2937G>A	c.(2935-2937)acG>acA	p.T979T	NCOA1_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000405141.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1		PAX3/NCOA1(8)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				AACAAGCAACGCCACCTTTGA	0.428000			T	PAX3	alveolar rhadomyosarcoma										Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0							SO:0001819	synonymous_variant			ENST00000406961.1	1	1	hg19	CCDS1712.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	1	0	1	212	558	0	110	1	1	50	79	0	110	2		0	0	0	0	0	2	1	1	207	545	1	110	22								-20.000000	1	1	121412	2	38	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA1	8648	broad.mit.edu	37	2	24991146	24991146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24991146C>T	ENST00000406961.1	+	23	4864	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G	NCOA1_ENST00000348332.3_Silent_p.G1404G|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	p.G1404G(1)	PAX3/NCOA1(8)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				ATCTGGTAGGCGGGGACCCTT	0.557000			T	PAX3	alveolar rhadomyosarcoma										Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000406961.1	1	1	hg19	CCDS1712.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	1	0	1	95	510	0	117	1	9.999998e-01	16	101	0	117	2		0	0	0	0	0	2	1	1	94	498	0	117	2								-3.320413	1	1	121412	2	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY3	109	broad.mit.edu	37	2	25042948	25042948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042948G>A	ENST00000260600.5	-	21	4139	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.Y683Y	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				AGCGGAAGCCGTACTCTCGGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000260600.5	1	1	hg19	CCDS1715.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1	35	205	0	67	1	9.999999e-01	18	141	0	67	2		0	0	0	0	0	2	1	1	33	198	0	65	2								-2.928586	1	0	121294	1	28	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
ADCY3	109	broad.mit.edu	37	2	25042959	25042959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042959G>T	ENST00000260600.5	-	21	4128	c.3277C>A	c.(3277-3279)Ctc>Atc	p.L1093I	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				TACTCTCGGAGGATGACTTGG	0.612000																								0							SO:0001583	missense			ENST00000260600.5	1	1	hg19	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935156	0.92458	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	D;D	0.86097	-2.07;-2.07	5.68	5.68	0.88126	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	L	0.59436	1.845	0.52501	D	0.999958	D;D;P	0.76494	0.984;0.999;0.546	D;D;P	0.97110	0.981;1.0;0.803	D	0.90900	0.4768	10	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	1094;1093;680	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	1093;680;1068	ENSP00000260600:L1093I;ENSP00000384484:L680I	ENSP00000260600:L1093I	L	-	1	0	ADCY3	24896463	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.526000	0.81920	2.838000	0.97847	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1	54	187	0	63	1	1	43	130	0	63	2		0	0	0	0	0	2	1	1	52	179	0	62	2								-4.106002	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY3	109	broad.mit.edu	37	2	25046192	25046192	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25046192T>C	ENST00000260600.5	-	17	3620	c.2769A>G	c.(2767-2769)ggA>ggG	p.G923G	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Silent_p.G510G	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				CAAACATGACTCCAATCTCAT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000260600.5	1	1	hg19	CCDS1715.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	0	0	1	21	225	0	58	1	9.995779e-01	16	120	0	58	2		0	0	0	0	0	2	1	9.999976e-01	21	220	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.700000	1.000000	1.000000	0.959066	0.990000	1	8.800000e-01	1
ADCY3	109	broad.mit.edu	37	2	25050811	25050811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25050811C>T	ENST00000260600.5	-	13	3243	c.2392G>A	c.(2392-2394)Gtc>Atc	p.V798I	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				TCATCAAAGACGGGACGCCAG	0.577000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000260600.5	1	1	hg19	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675471	0.03378	0.0	1.16E-4	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.38	-0.709	0.11237	.	0.251516	0.42964	N	0.000624	T	0.25938	0.0632	N	0.00677	-1.265	0.29688	N	0.841193	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.15952	T	0.53	.	13.8019	0.63206	0.0:0.1043:0.0:0.8957	.	798;798;385	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	I	798;385;773;137;141	ENSP00000260600:V798I;ENSP00000384484:V385I;ENSP00000402008:V137I;ENSP00000410972:V141I	ENSP00000260600:V798I	V	-	1	0	ADCY3	24904315	1.000000	0.71417	0.926000	0.36857	0.006000	0.05464	2.103000	0.41806	-0.280000	0.09154	-1.910000	0.00522	GTC		TCGA-IB-7651-01A-11D-2154-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1	95	338	0	83	1	1	35	110	0	83	2		0	0	0	0	0	2	1	1	94	336	0	82	2								-4.147297	1	1	121412	2	40	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY3	109	broad.mit.edu	37	2	25057670	25057670	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25057670C>T	ENST00000260600.5	-	9	2649	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	ADCY3_ENST00000450524.1_5'Flank|ADCY3_ENST00000405392.1_Missense_Mutation_p.A233T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				TACACTTGGGCGGACTCTCGC	0.637000																								0							SO:0001583	missense			ENST00000260600.5	1	1	hg19	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397356	0.62177	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.261189	0.37095	N	0.002250	T	0.18002	0.0432	N	0.08118	0	0.40094	D	0.976298	P;P;P	0.44776	0.751;0.843;0.751	B;B;B	0.24394	0.037;0.037;0.053	T	0.15896	-1.0421	10	0.14252	T	0.57	.	17.2636	0.87078	0.0:1.0:0.0:0.0	.	600;600;233	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	T	600;233;575	ENSP00000260600:A600T;ENSP00000384484:A233T	ENSP00000260600:A600T	A	-	1	0	ADCY3	24911174	0.999000	0.42202	0.943000	0.38184	0.969000	0.65631	4.132000	0.57977	2.413000	0.81919	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	0	0	0	13	368	0	70	1	8.190833e-01	3	88	0	70	2		0	0	0	0	0	2	1	9.995204e-01	13	364	0	68	2								-3.006078	1	1	121412	6	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.440000	0.240000	0.710000	0.430000	0.462606	0.440000	0	3.300000e-01	5.800000e-01
ADCY3	109	broad.mit.edu	37	2	25095498	25095498	+	Missense_Mutation	SNP	G	G	T	rs114534287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25095498G>T	ENST00000260600.5	-	2	1617	c.766C>A	c.(766-768)Ctg>Atg	p.L256M		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				CGGGCCTCCAGGAAGGCCTTG	0.632000																								0							SO:0001583	missense			ENST00000260600.5	1	1	hg19	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852307	0.71719	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000427849;ENST00000433852	D;D;D	0.83419	-1.72;-1.61;-1.51	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91272	0.5045	10	0.66056	D	0.02	.	17.3652	0.87362	0.0:0.0:1.0:0.0	.	256;256	B7ZLX9;O60266	.;ADCY3_HUMAN	M	256;231;22;34	ENSP00000260600:L256M;ENSP00000399275:L22M;ENSP00000401455:L34M	ENSP00000260600:L256M	L	-	1	2	ADCY3	24949002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.323000	0.59221	2.430000	0.82344	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1	179	768	0	130	1	1	19	97	0	130	2		0	0	0	0	0	2	1	1	177	753	0	128	2								-2.639724	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY3	109	broad.mit.edu	37	2	25141381	25141381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141381A>G	ENST00000260600.5	-	1	1327	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				GGCACGCGCGAAGTTCAGGCC	0.622000																								0							SO:0001583	missense			ENST00000260600.5	1	1	hg19	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019731	0.35606	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135	T;T	0.81078	-1.45;-1.09	4.38	4.38	0.52667	.	0.062532	0.64402	D	0.000005	T	0.73961	0.3654	L	0.51422	1.61	0.80722	D	1	B;B	0.17852	0.024;0.024	B;B	0.17433	0.018;0.018	T	0.68599	-0.5366	10	0.21540	T	0.41	.	12.5861	0.56419	1.0:0.0:0.0:0.0	.	159;159	B7ZLX9;O60266	.;ADCY3_HUMAN	S	159;134;159	ENSP00000260600:F159S;ENSP00000389799:F159S	ENSP00000260600:F159S	F	-	2	0	ADCY3	24994885	1.000000	0.71417	0.885000	0.34714	0.655000	0.38815	6.454000	0.73493	1.842000	0.53543	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	1	153	423	0	114	1	1	38	86	0	114	2		0	0	0	0	0	2	1	1	152	419	0	112	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY3	109	broad.mit.edu	37	2	25141705	25141705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141705C>T	ENST00000260600.5	-	1	1003	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3			44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)				CCGCATGAAGCGAGGCAGGCA	0.637000																								0							SO:0001583	missense			ENST00000260600.5	1	1	hg19	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403834	0.62288	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80738	-1.41;-1.02;0.65	4.27	3.37	0.38596	.	0.198405	0.45126	D	0.000381	T	0.72011	0.3408	L	0.51422	1.61	0.80722	D	1	P;P	0.40332	0.713;0.713	B;B	0.35114	0.182;0.196	T	0.74312	-0.3706	10	0.44086	T	0.13	.	11.2568	0.49058	0.0:0.907:0.0:0.0929	.	51;51	B7ZLX9;O60266	.;ADCY3_HUMAN	H	51;26;51;51	ENSP00000260600:R51H;ENSP00000389799:R51H;ENSP00000406153:R51H	ENSP00000260600:R51H	R	-	2	0	ADCY3	24995209	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.815000	0.48018	2.211000	0.71520	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	1	0	0	22	319	0	54	1	9.571039e-01	3	75	0	54	2		0	0	0	0	0	2	1	9.999989e-01	22	319	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.830000	0.530000	1.000000	1.000000	0.828048	0.830000	0	6.700000e-01	1
POMC	5443	broad.mit.edu	37	2	25384073	25384073	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25384073G>T	ENST00000405623.1	-	3	1136	c.681C>A	c.(679-681)cgC>cgA	p.R227R	POMC_ENST00000264708.3_Silent_p.R227R|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000380794.1_Silent_p.R227R			P01189	COLI_HUMAN	proopiomelanocortin			12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Loperamide(DB00836)	GGCTGCCCCAGCGGAAGTGCT	0.652000													Colon(110;1515 1566 8452 10082 43216)											0							SO:0001819	synonymous_variant			ENST00000405623.1	1	1	hg19	CCDS1717.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	1	0	1	37	227	0	47	0	3.747259e-01	0	9	0	47	2		0	0	0	0	0	2	1	1	36	224	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
DNMT3A	1788	broad.mit.edu	37	2	25462038	25462038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25462038C>A	ENST00000264709.3	-	20	2706	c.2369G>T	c.(2368-2370)aGg>aTg	p.R790M	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha			1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GTAGCGGGCCCTGTGTGCAGC	0.562000			Mis, F, N, S		AML										Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0							SO:0001583	missense			ENST00000264709.3	1	1	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187538	0.94923	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96	5.64	5.64	0.86602	.	0.084554	0.85682	D	0.000000	D	0.99846	0.9929	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.87932	D	0	-14.0906	17.206	0.86918	0.0:1.0:0.0:0.0	.	790;601	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	M	601;790;790;567	ENSP00000370122:R601M;ENSP00000324375:R790M;ENSP00000264709:R790M;ENSP00000384237:R567M	ENSP00000264709:R790M	R	-	2	0	DNMT3A	25315542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.681000	0.91329	0.561000	0.74099	AGG		TCGA-IB-7651-01A-11D-2154-08	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	1	0	0	34	139	0	35	0	9.957900e-01	1	37	0	35	2		0	0	0	0	0	2	1	1	34	136	0	35	2								-3.430817	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNMT3A	1788	broad.mit.edu	37	2	25467030	25467030	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25467030C>A	ENST00000264709.3	-	15	2182	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha			1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TCACAAATTCCTGGTCGTGGT	0.637000			Mis, F, N, S		AML										Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0							SO:0001583	missense			ENST00000264709.3	1	1	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789743	0.70337	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.71036	2.16	0.80722	D	1	B;D	0.71674	0.353;0.998	B;D	0.79784	0.106;0.993	T	0.81015	-0.1124	10	0.33141	T	0.24	-9.0995	8.0965	0.30831	0.0:0.762:0.0:0.238	.	615;426	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	426;615;615;392	ENSP00000370122:Q426H;ENSP00000324375:Q615H;ENSP00000264709:Q615H;ENSP00000384237:Q392H	ENSP00000264709:Q615H	Q	-	3	2	DNMT3A	25320534	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.644000	0.24766	2.354000	0.79902	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	1	0	1	113	261	0	67	1	9.999514e-01	10	27	0	67	2		0	0	0	0	0	2	1	1	113	258	0	67	2								-9.081131	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNMT3A	1788	broad.mit.edu	37	2	25469575	25469575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25469575G>A	ENST00000264709.3	-	10	1530	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha			1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CACCTCCACGGCCTTGGCAGT	0.642000			Mis, F, N, S		AML										Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0							SO:0001583	missense			ENST00000264709.3	1	1	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696275	0.48202	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.87	4.87	0.63330	.	0.138248	0.49305	D	0.000144	D	0.90587	0.7049	N	0.08118	0	0.80722	D	1	B;B	0.21225	0.002;0.053	B;B	0.08055	0.0;0.003	D	0.87477	0.2418	10	0.54805	T	0.06	-5.7502	15.5438	0.76077	0.0:0.0:1.0:0.0	.	398;209	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	209;398;398;175	ENSP00000370122:A209V;ENSP00000324375:A398V;ENSP00000264709:A398V;ENSP00000384237:A175V	ENSP00000264709:A398V	A	-	2	0	DNMT3A	25323079	1.000000	0.71417	0.957000	0.39632	0.978000	0.69477	4.409000	0.59768	2.535000	0.85469	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	1	0	0	56	729	0	114	1	7.240957e-01	2	33	0	114	2		0	0	0	0	0	2	1	1	56	719	0	111	2								-11.675800	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.900000	0.690000	1.000000	1.000000	0.902123	0.900000	1	7.900000e-01	1
DTNB	1838	broad.mit.edu	37	2	25650421	25650421	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25650421G>T	ENST00000406818.3	-	15	1786	c.1537C>A	c.(1537-1539)Ctg>Atg	p.L513M	DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000288642.8_Missense_Mutation_p.L513M|DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000405222.1_Missense_Mutation_p.L483M|AC104699.1_ENST00000352271.6_RNA|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000407038.3_Missense_Mutation_p.L483M	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta			11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				AACTTCATCAGCTCTTCCAGC	0.562000																								0							SO:0001583	missense			ENST00000406818.3	0	1	hg19	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013511	0.54468	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T;T;T	0.73152	0.7;0.81;0.54;0.87;0.55;0.7;0.66;0.57;-0.72	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	L	0.61218	1.895	0.53688	D	0.999971	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;0.999;0.997;0.991;0.999;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.988;0.973;0.988;0.998;0.984;0.953;0.953;0.972;0.984;0.978;0.995;0.988;0.999;0.972	D	0.83885	0.0281	10	0.87932	D	0	-13.0937	16.7198	0.85407	0.0693:0.0:0.9307:0.0	.	513;309;456;513;513;513;456;483;483;483;513;513;513;513	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;Q1I0L3;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	M	456;513;513;513;483;483;483;513;309	ENSP00000444463:L456M;ENSP00000384084:L513M;ENSP00000385482:L513M;ENSP00000385193:L513M;ENSP00000384767:L483M;ENSP00000384787:L483M;ENSP00000385784:L483M;ENSP00000288642:L513M;ENSP00000444961:L309M	ENSP00000288642:L513M	L	-	1	2	DTNB	25503925	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.385000	0.66231	0.806000	0.34183	-0.797000	0.03246	CTG		TCGA-IB-7651-01A-11D-2154-08	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	0	0	0	7	309	0	40	1	3.274932e-01	2	45	0	40	2		0	0	0	0	0	2	1	9.790729e-01	7	301	0	40	2								-7.680177	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.290000	0.130000	0.550000	0.270000	0.317823	0.290000	0	2.000000e-01	4.200000e-01
DTNB	1838	broad.mit.edu	37	2	25861906	25861906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25861906C>T	ENST00000406818.3	-	3	374	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta			11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TTGTACAAATCGTAATTTGCA	0.343000																								0							SO:0001583	missense			ENST00000406818.3	0	1	hg19	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244952	0.95272	.	.	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.96	5.96	0.96718	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	M	0.75150	2.29	0.80722	D	1	D;P;D;D;D;D;P;P	0.89917	0.995;0.884;0.998;1.0;1.0;1.0;0.916;0.875	P;P;P;D;D;D;P;B	0.81914	0.823;0.473;0.899;0.995;0.98;0.99;0.493;0.383	T	0.81745	-0.0792	10	0.54805	T	0.06	-7.3487	17.1412	0.86754	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42;42;42	O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	Q	42	ENSP00000384084:R42Q;ENSP00000385482:R42Q;ENSP00000385193:R42Q;ENSP00000384767:R42Q;ENSP00000384787:R42Q;ENSP00000385784:R42Q;ENSP00000288642:R42Q;ENSP00000306529:R42Q;ENSP00000340957:R42Q	ENSP00000288642:R42Q	R	-	2	0	DTNB	25715410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.479000	0.73600	2.832000	0.97577	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	0	0	1	7	47	0	18	1	9.818762e-01	12	41	0	18	2		0	0	0	0	0	2	1	9.805682e-01	7	45	0	17	2								-13.750340	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.770000	1.000000	1.000000	0.986209	0.990000	1	9.900000e-01	1
ASXL2	55252	broad.mit.edu	37	2	25965233	25965233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25965233G>A	ENST00000435504.4	-	13	4266	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S|ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2			33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTATAGCTTGGCCCTATCTGG	0.532000																								0							SO:0001583	missense			ENST00000435504.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.12	2.141906	0.37825	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18657	2.24;2.24;2.2;2.2	6.03	5.14	0.70334	.	0.166625	0.53938	D	0.000047	T	0.36552	0.0971	L	0.55103	1.725	0.25005	N	0.991446	D;B	0.89917	1.0;0.162	D;B	0.87578	0.998;0.055	T	0.18209	-1.0344	10	0.22706	T	0.39	-10.6364	9.4576	0.38764	0.0746:0.1453:0.7801:0.0	.	808;1325	Q76L83-2;Q76L83	.;ASXL2_HUMAN	S	1325;1297;808;808	ENSP00000391447:P1325S;ENSP00000337250:P1297S;ENSP00000383920:P808S;ENSP00000272341:P808S	ENSP00000272341:P808S	P	-	1	0	ASXL2	25818737	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.564000	0.36375	1.524000	0.49035	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	1	0	1	26	138	0	28	1	9.922491e-01	6	37	0	28	2		0	0	0	0	0	2	1	9.999999e-01	26	135	0	28	2								-20.000000	1	1	120862	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
ASXL2	55252	broad.mit.edu	37	2	25973170	25973170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25973170G>A	ENST00000435504.4	-	12	1548	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F	ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F|ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2			33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				ATTCTGATAAGAGAGGCCTCT	0.438000																								0							SO:0001583	missense			ENST00000435504.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.66	1.412728	0.25465	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.79	3.93	0.45458	.	0.556047	0.19778	N	0.106299	T	0.09069	0.0224	N	0.08118	0	0.22305	N	0.999212	B;P	0.44877	0.379;0.845	B;B	0.41619	0.082;0.361	T	0.11717	-1.0576	10	0.45353	T	0.12	-0.6765	8.2328	0.31608	0.082:0.0:0.7593:0.1587	.	159;419	Q76L83-2;Q76L83	.;ASXL2_HUMAN	F	419;391;159;159	ENSP00000391447:L419F;ENSP00000337250:L391F;ENSP00000383920:L159F;ENSP00000272341:L159F	ENSP00000272341:L159F	L	-	1	0	ASXL2	25826674	0.394000	0.25246	0.851000	0.33527	0.251000	0.25915	2.011000	0.40922	1.381000	0.46364	0.591000	0.81541	CTT		TCGA-IB-7651-01A-11D-2154-08	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	1	0	1	237	1079	0	214	1	9.996675e-01	11	43	0	214	2		0	0	0	0	0	2	1	1	234	1052	0	214	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF3C	3797	broad.mit.edu	37	2	26203981	26203981	+	Missense_Mutation	SNP	G	G	A	rs150389136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26203981G>A	ENST00000264712.3	-	1	1385	c.806C>T	c.(805-807)tCg>tTg	p.S269L	KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C			29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				accgccaccCGAGGATGGTGT	0.632000																								0							SO:0001583	missense			ENST00000264712.3	1	1	hg19	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	1.286	-0.608905	0.03690	0.0	1.17E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72725	-0.68;-0.68	5.67	2.92	0.33932	Kinesin, motor domain (3);	1.216860	0.05796	N	0.611221	T	0.58192	0.2105	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50154	-0.8861	10	0.72032	D	0.01	.	7.063	0.25137	0.2702:0.0:0.7298:0.0	.	269;269	B7ZM25;O14782	.;KIF3C_HUMAN	L	269;75;269	ENSP00000264712:S269L;ENSP00000385030:S269L	ENSP00000264712:S269L	S	-	2	0	KIF3C	26057485	0.112000	0.22096	0.001000	0.08648	0.012000	0.07955	2.075000	0.41538	0.761000	0.33130	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1	1	0	1	56	302	0	50	1	7.958471e-01	5	13	0	50	2		0	0	0	0	0	2	1	1	55	287	0	45	2								-20.000000	1	1	121392	21	44	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB10	10890	broad.mit.edu	37	2	26350742	26350742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26350742G>A	ENST00000264710.4	+	5	940	c.441G>A	c.(439-441)agG>agA	p.R147R	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family			3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				ATGGTATTAGGTTTTTTGAGA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000264710.4	0	1	hg19	CCDS1720.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	0	0	0	11	501	0	83	1	9.998711e-01	58	709	0	83	2		0	0	0	0	0	2	1	9.982145e-01	11	493	0	83	2								-2.332587	0	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.280000	0.140000	0.470000	0.270000	0.296114	0.280000	0	2.000000e-01	3.800000e-01
HADHA	3030	broad.mit.edu	37	2	26437387	26437387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26437387C>A	ENST00000380649.3	-	9	972	c.843G>T	c.(841-843)caG>caT	p.Q281H	HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit			30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TTTTGTAAACCTGTTGCCTGA	0.363000																								0							SO:0001583	missense			ENST00000380649.3	1	1	hg19	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053627	0.36277	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.72051	-0.62;-0.62	5.64	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.80982	2.52	0.53005	D	0.99996	P;P;P	0.45011	0.848;0.844;0.844	P;P;P	0.51055	0.652;0.657;0.657	T	0.65340	-0.6192	10	0.27785	T	0.31	-21.0299	4.6841	0.12750	0.138:0.4851:0.0:0.377	.	194;281;281	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	H	281;194	ENSP00000370023:Q281H;ENSP00000405344:Q194H	ENSP00000370023:Q281H	Q	-	3	2	HADHA	26290891	0.719000	0.27986	0.264000	0.24511	0.980000	0.70556	0.215000	0.17562	-0.075000	0.12798	-0.143000	0.13931	CAG		TCGA-IB-7651-01A-11D-2154-08	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	1	0	1	126	322	0	75	1	1	236	479	0	75	2		0	0	0	0	0	2	1	1	125	318	0	73	2								-7.630525	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HADHB	3032	broad.mit.edu	37	2	26501526	26501526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501526G>A	ENST00000317799.5	+	8	591	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	HADHB_ENST00000537713.1_Missense_Mutation_p.G148S|HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit			19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GATCGTGGCAGGTGGTGTTGA	0.433000																								0							SO:0001583	missense			ENST00000317799.5	1	1	hg19	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465686	0.96257	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822;ENST00000425035	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.44	5.44	0.79542	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.98302	1.0519	9	.	.	.	-19.9874	18.186	0.89793	0.0:0.0:1.0:0.0	.	148;141;163	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	S	163;148;141;163	ENSP00000325136:G163S;ENSP00000444295:G148S;ENSP00000442665:G141S;ENSP00000404633:G163S	.	G	+	1	0	HADHB	26355030	1.000000	0.71417	0.995000	0.50966	0.704000	0.40688	9.759000	0.98931	2.708000	0.92522	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	1	0	1	53	455	0	78	1	1	77	354	0	78	2		0	0	0	0	0	2	1	1	49	435	0	78	2								-3.017764	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999132	0.990000	1	9.900000e-01	1
HADHB	3032	broad.mit.edu	37	2	26501669	26501669	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501669G>T	ENST00000317799.5	+	8	734	c.630G>T	c.(628-630)gaG>gaT	p.E210D	HADHB_ENST00000537713.1_Splice_Site_p.E195D|HADHB_ENST00000545822.1_Splice_Site_p.E188D|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit			19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TAGCACCTGAGGTAAGGCTTG	0.418000																								0							SO:0001630	splice_region_variant			ENST00000317799.5	1	0	hg19	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845401	0.71603	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.93426	-3.21;-3.22;-3.2	5.06	5.06	0.68205	Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	L	0.52573	1.65	0.80722	D	1	P;B;B	0.35944	0.529;0.337;0.337	B;B;B	0.37943	0.248;0.261;0.261	D	0.89801	0.3975	9	.	.	.	-22.557	17.5149	0.87770	0.0:0.0:1.0:0.0	.	195;188;210	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	D	210;195;188	ENSP00000325136:E210D;ENSP00000444295:E195D;ENSP00000442665:E188D	.	E	+	3	2	HADHB	26355173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.495000	0.97964	2.788000	0.95919	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	1	0	1	100	488	0	81	0	1	0	501	0	81	2		0	0	0	0	0	2	1	1	99	475	0	80	2								-3.091417	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR113	165082	broad.mit.edu	37	2	26534302	26534302	+	Missense_Mutation	SNP	G	G	A	rs116030611	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26534302G>A	ENST00000311519.1	-	11	2293	c.2294C>T	c.(2293-2295)cCg>cTg	p.P765L	GPR113_ENST00000333478.6_Missense_Mutation_p.P566L|GPR113_ENST00000541401.1_Missense_Mutation_p.P368L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.P696L	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113			24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GGGTTCTTCCGGAACAGTGTG	0.627000																								0							SO:0001583	missense			ENST00000311519.1	1	0	hg19	CCDS46239.1	23	0.010531135531135532	17	0.034552845528455285	1	0.0027624309392265192	4	0.006993006993006993	1	0.0013192612137203166	G	10.27	1.303444	0.23736	0.024512	2.33E-4	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.33654	1.42;1.42;1.44;1.4	5.85	3.1	0.35709	.	.	.	.	.	T	0.20007	0.0481	M	0.63843	1.955	0.19945	N	0.999947	P;P;P;D	0.60160	0.807;0.931;0.886;0.987	B;B;B;P	0.53224	0.265;0.354;0.253;0.721	T	0.11743	-1.0575	9	0.54805	T	0.06	-4.4339	5.0572	0.14539	0.154:0.0:0.5522:0.2938	.	696;566;765;368	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	L	368;566;696;765	ENSP00000445729:P368L;ENSP00000327396:P566L;ENSP00000388537:P696L;ENSP00000307831:P765L	ENSP00000307831:P765L	P	-	2	0	GPR113	26387806	0.271000	0.24162	0.006000	0.13384	0.001000	0.01503	2.436000	0.44819	0.406000	0.25560	-0.141000	0.14075	CCG		TCGA-IB-7651-01A-11D-2154-08	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	1	0	1	177	479	0	123	0	0	0	1	0	123	2		0	0	0	0	0	2	1	1	177	467	0	122	2								-2.352653	0	1	121408	361	59	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR113	165082	broad.mit.edu	37	2	26535831	26535831	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26535831G>T	ENST00000311519.1	-	10	1632	c.1633C>A	c.(1633-1635)Ctt>Att	p.L545I	GPR113_ENST00000333478.6_Missense_Mutation_p.L346I|GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.L476I	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113			24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTGCGGTCAAGCTGTATTCTG	0.617000																								0							SO:0001583	missense			ENST00000311519.1	0	1	hg19	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433745	0.62955	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.52	5.52	0.82312	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.25044	0.0608	M	0.66939	2.045	0.80722	D	1	B;P;B;B	0.36110	0.236;0.537;0.392;0.094	B;B;B;B	0.44224	0.444;0.316;0.444;0.234	T	0.00589	-1.1656	9	0.56958	D	0.05	-17.2314	15.283	0.73801	0.0:0.0:1.0:0.0	.	476;346;545;148	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	I	148;346;476;545	ENSP00000445729:L148I;ENSP00000327396:L346I;ENSP00000388537:L476I;ENSP00000307831:L545I	ENSP00000307831:L545I	L	-	1	0	GPR113	26389335	0.990000	0.36364	0.118000	0.21660	0.225000	0.24961	4.891000	0.63185	2.761000	0.94854	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	0	0	0	7	116	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.810604e-01	7	115	0	18	2								-10.733610	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.750000	0.340000	1.000000	1.000000	0.754823	0.750000	0	5.200000e-01	1
OTOF	9381	broad.mit.edu	37	2	26698861	26698861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26698861C>A	ENST00000272371.2	-	24	3038	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_ENST00000402415.3_Missense_Mutation_p.S281I|OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin			106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GGCAAAGAGGCTGCGGGCCTG	0.652000													GBM(102;732 1451 20652 24062 31372)											0							SO:0001583	missense			ENST00000272371.2	1	1	hg19	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877370	0.91664	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.72576	2.205	0.80722	D	1	D;P;D;D	0.89917	1.0;0.916;1.0;0.995	D;P;D;D	0.77004	0.989;0.583;0.988;0.974	T	0.81174	-0.1053	10	0.46703	T	0.11	-41.4175	18.7824	0.91939	0.0:1.0:0.0:0.0	.	971;224;281;224	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	224;224;281;971;971	ENSP00000345137:S224I;ENSP00000344521:S224I;ENSP00000383906:S281I;ENSP00000272371:S971I;ENSP00000385255:S971I	ENSP00000272371:S971I	S	-	2	0	OTOF	26552365	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.017000	0.70805	2.546000	0.85860	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	1	0	1	38	113	0	27	0	6.620830e-02	1	1	0	27	2		0	0	0	0	0	2	1	1	35	112	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTOF	9381	broad.mit.edu	37	2	26705280	26705280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26705280C>T	ENST00000272371.2	-	14	1699	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin			106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TGACCTTTGTCTCCGTCATTA	0.572000													GBM(102;732 1451 20652 24062 31372)											0							SO:0001583	missense			ENST00000272371.2	1	1	hg19	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272530	0.95429	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80738	-1.41;-1.41	5.13	5.13	0.70059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.049114	0.85682	D	0.000000	D	0.89536	0.6743	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88357	0.2985	10	0.33940	T	0.23	-40.0469	18.1792	0.89772	0.0:1.0:0.0:0.0	.	525	Q9HC10	OTOF_HUMAN	N	525	ENSP00000272371:D525N;ENSP00000385255:D525N	ENSP00000272371:D525N	D	-	1	0	OTOF	26558784	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.770000	0.85390	2.396000	0.81511	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	1	0	1	92	295	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	91	286	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTOF	9381	broad.mit.edu	37	2	26724644	26724644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26724644G>A	ENST00000272371.2	-	8	869	c.743C>T	c.(742-744)gCt>gTt	p.A248V	OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin			106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GGGCCGCCCAGCACTTGGCTC	0.552000													GBM(102;732 1451 20652 24062 31372)											0							SO:0001583	missense			ENST00000272371.2	1	1	hg19	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248471	0.80024	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80824	-1.42;-1.42	5.81	5.81	0.92471	C2 membrane targeting protein (1);	0.048531	0.85682	D	0.000000	T	0.78629	0.4313	L	0.47716	1.5	0.54753	D	0.999984	P	0.46395	0.877	B	0.43360	0.417	T	0.76421	-0.2965	10	0.30078	T	0.28	-14.7144	18.6464	0.91411	0.0:0.0:1.0:0.0	.	248	Q9HC10	OTOF_HUMAN	V	248	ENSP00000272371:A248V;ENSP00000385255:A248V	ENSP00000272371:A248V	A	-	2	0	OTOF	26578148	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	9.471000	0.97696	2.746000	0.94184	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	1	0	1	46	268	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	44	260	0	67	2								-19.992220	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C2orf70	339778	broad.mit.edu	37	2	26798779	26798779	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26798779C>T	ENST00000329615.3	+	2	115	c.84C>T	c.(82-84)ggC>ggT	p.G28G	C2orf70_ENST00000409392.1_Missense_Mutation_p.P16S	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70			13					GGTACCAGGGCCACGTCCCCA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000329615.3	0	1	hg19	CCDS42661.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257120	0.10239	.	.	ENSG00000173557	ENST00000409392	.	.	.	4.5	3.6	0.41247	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.23036	N	0.998398	.	.	.	.	.	.	T	0.40117	-0.9580	5	0.87932	D	0	-27.9536	11.0531	0.47903	0.0:0.8991:0.0:0.1009	.	.	.	.	S	16	.	ENSP00000386615:P16S	P	+	1	0	C2orf70	26652283	1.000000	0.71417	0.985000	0.45067	0.036000	0.12997	0.379000	0.20585	2.196000	0.70406	0.462000	0.41574	CCA		TCGA-IB-7651-01A-11D-2154-08	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	0	0	0	14	356	0	55	0	4.978951e-03	0	3	0	55	2		0	0	0	0	0	2	1	9.997002e-01	14	344	0	54	2								-3.390538	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.490000	0.280000	0.770000	0.480000	0.510138	0.490000	0	3.700000e-01	6.300000e-01
KCNK3	3777	broad.mit.edu	37	2	26916011	26916011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26916011G>A	ENST00000302909.3	+	1	393	c.268G>A	c.(268-270)Gtc>Atc	p.V90I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3			14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Doxapram(DB00561)|Halothane(DB01159)	CGCCATCACCGTCATCACCAC	0.746000													GBM(80;1457 1631 27100 45946)											0							SO:0001583	missense			ENST00000302909.3	1	1	hg19	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419167	0.83559	.	.	ENSG00000171303	ENST00000302909	T	0.24908	1.83	3.15	3.15	0.36227	Ion transport 2 (1);	0.000000	0.64402	D	0.000006	T	0.43211	0.1237	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.41840	-0.9486	10	0.87932	D	0	.	11.793	0.52080	0.0:0.0:1.0:0.0	.	90	O14649	KCNK3_HUMAN	I	90	ENSP00000306275:V90I	ENSP00000306275:V90I	V	+	1	0	KCNK3	26769515	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.776000	0.91776	1.625000	0.50366	0.305000	0.20034	GTC		TCGA-IB-7651-01A-11D-2154-08	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	0	0	0	129	267	1	59	0	1.072405e-01	0	2	1	59	2		0	0	0	0	0	2	1	1	123	251	1	58	20								-12.000080	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK3	3777	broad.mit.edu	37	2	26950699	26950699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950699C>T	ENST00000302909.3	+	2	573	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3			14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Doxapram(DB00561)|Halothane(DB01159)	GCTGGGCATGCGGCGCGCCGA	0.652000													GBM(80;1457 1631 27100 45946)											0							SO:0001583	missense			ENST00000302909.3	1	1	hg19	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754335	0.69648	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22945	1.93	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	M	0.83483	2.645	0.47511	D	0.999448	D	0.76494	0.999	D	0.67548	0.952	T	0.55860	-0.8074	10	0.87932	D	0	.	11.7912	0.52070	0.1755:0.8245:0.0:0.0	.	150	O14649	KCNK3_HUMAN	W	27;150	ENSP00000306275:R150W	ENSP00000306275:R150W	R	+	1	2	KCNK3	26804203	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.560000	0.23500	2.619000	0.88677	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	1	105	482	0	62	0	7.047611e-01	0	13	0	62	2		0	0	0	0	0	2	1	1	103	474	0	59	2								-2.792925	1	1	121402	1	25	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK3	3777	broad.mit.edu	37	2	26950898	26950898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950898C>T	ENST00000302909.3	+	2	772	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3			14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Doxapram(DB00561)|Halothane(DB01159)	GCCCTGCAGACGCAGCCGCAG	0.607000													GBM(80;1457 1631 27100 45946)											0							SO:0001583	missense			ENST00000302909.3	1	1	hg19	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	c	17.25	3.341845	0.61073	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.25250	1.81	4.72	4.72	0.59763	Ion transport 2 (1);	0.255913	0.36893	N	0.002358	T	0.36441	0.0967	L	0.38175	1.15	0.46044	D	0.99883	P	0.50272	0.933	P	0.56788	0.806	T	0.11991	-1.0565	10	0.62326	D	0.03	.	15.5289	0.75936	0.0:1.0:0.0:0.0	.	216	O14649	KCNK3_HUMAN	M	93;216	ENSP00000306275:T216M	ENSP00000306275:T216M	T	+	2	0	KCNK3	26804402	0.971000	0.33674	1.000000	0.80357	0.994000	0.84299	1.475000	0.35409	2.303000	0.77524	0.556000	0.70494	ACG		TCGA-IB-7651-01A-11D-2154-08	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	1	42	218	0	40	0	4.468108e-01	0	9	0	40	2		0	0	0	0	0	2	1	1	42	217	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK3	3777	broad.mit.edu	37	2	26951010	26951010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951010C>T	ENST00000302909.3	+	2	884	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3			14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Doxapram(DB00561)|Halothane(DB01159)	ACGCCGAGGACGAGAAGCGCG	0.682000													GBM(80;1457 1631 27100 45946)											0							SO:0001819	synonymous_variant			ENST00000302909.3	0	1	hg19	CCDS1727.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	0	31	48	0	9	0	8.768737e-01	0	8	0	9	2		0	0	0	0	0	2	1	1	31	48	0	9	2								-20.000000	1	1	120744	3	24	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNK3	3777	broad.mit.edu	37	2	26951339	26951339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951339G>A	ENST00000302909.3	+	2	1213	c.1088G>A	c.(1087-1089)tGc>tAc	p.C363Y		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3			14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Doxapram(DB00561)|Halothane(DB01159)	CGCTGCCTGTGCAGCGGGGCG	0.716000													GBM(80;1457 1631 27100 45946)											0							SO:0001583	missense			ENST00000302909.3	1	1	hg19	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202469	0.58234	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.22134	1.97	3.35	3.35	0.38373	.	1.338500	0.04478	N	0.377265	T	0.34571	0.0902	L	0.55481	1.735	0.51482	D	0.999926	D	0.69078	0.997	P	0.60682	0.878	T	0.54289	-0.8316	10	0.02654	T	1	.	10.5589	0.45133	0.0:0.0:1.0:0.0	.	363	O14649	KCNK3_HUMAN	Y	240;363	ENSP00000306275:C363Y	ENSP00000306275:C363Y	C	+	2	0	KCNK3	26804843	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.760000	0.62235	2.198000	0.70561	0.555000	0.69702	TGC		TCGA-IB-7651-01A-11D-2154-08	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	0	14	40	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.998702e-01	14	39	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
DPYSL5	56896	broad.mit.edu	37	2	27154526	27154526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27154526C>T	ENST00000288699.6	+	6	846	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5			27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TGAAGCCACTCATCGTGTTAT	0.502000																								0							SO:0001583	missense			ENST00000288699.6	1	1	hg19	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267448	0.40095	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89746	-2.56;-2.56	6.08	6.08	0.98989	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	N	0.20483	0.58	0.54753	D	0.999989	B	0.13594	0.008	B	0.20577	0.03	T	0.74819	-0.3535	10	0.05351	T	0.99	-23.087	19.4436	0.94836	0.0:1.0:0.0:0.0	.	230	Q9BPU6	DPYL5_HUMAN	Y	230	ENSP00000288699:H230Y;ENSP00000385549:H230Y	ENSP00000288699:H230Y	H	+	1	0	DPYSL5	27008030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	2.894000	0.99253	0.591000	0.81541	CAT		TCGA-IB-7651-01A-11D-2154-08	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	1	0	1	80	243	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	79	229	0	60	2								-5.006820	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPRE3	22924	broad.mit.edu	37	2	27247044	27247044	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27247044C>T	ENST00000233121.2	+	4	546	c.348C>T	c.(346-348)gaC>gaT	p.D116D	MAPRE3_ENST00000405074.3_Silent_p.D116D|MAPRE3_ENST00000402218.1_Silent_p.D116D			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				AATTCTTTGACGCAAACTATG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000233121.2	1	1	hg19	CCDS1731.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	0	0	0	11	354	0	54	1	5.244390e-01	2	53	0	54	2		0	0	0	0	0	2	1	9.982650e-01	11	349	0	53	2								-11.038350	1	1	121412	3	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.390000	0.200000	0.650000	0.390000	0.413657	0.390000	0	2.900000e-01	5.200000e-01
TMEM214	54867	broad.mit.edu	37	2	27256991	27256991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27256991C>T	ENST00000238788.9	+	2	270	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	TMEM214_ENST00000404032.3_Missense_Mutation_p.R70W	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214			18					TATCATGAAGCGGCAGAATAA	0.532000																								0							SO:0001583	missense			ENST00000238788.9	1	1	hg19	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217661	0.79352	.	.	ENSG00000119777	ENST00000238788;ENST00000535207;ENST00000404032	D;D	0.86627	-2.15;-2.15	5.07	1.71	0.24356	.	0.312621	0.28712	N	0.014400	D	0.84602	0.5508	L	0.36672	1.1	0.27877	N	0.939838	D;D	0.69078	0.997;0.995	P;P	0.50708	0.648;0.639	T	0.79567	-0.1750	10	0.72032	D	0.01	-9.5612	12.3636	0.55217	0.543:0.4569:0.0:0.0	.	70;70	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	W	70	ENSP00000238788:R70W;ENSP00000384417:R70W	ENSP00000238788:R70W	R	+	1	2	TMEM214	27110495	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	1.689000	0.37700	0.455000	0.26910	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	0	0	0	18	516	0	101	1	9.643841e-01	3	157	0	101	2		0	0	0	0	0	2	1	9.999802e-01	18	509	0	101	2								-3.603942	1	1	120874	2	32	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.430000	0.260000	0.650000	0.420000	0.449726	0.430000	0	3.400000e-01	5.500000e-01
TMEM214	54867	broad.mit.edu	37	2	27258519	27258519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258519C>T	ENST00000238788.9	+	4	622	c.560C>T	c.(559-561)gCg>gTg	p.A187V	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214			18					GGGCTGCTGGCGAAGGCAGCA	0.567000																								0							SO:0001583	missense			ENST00000238788.9	1	1	hg19	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596600	0.46318	.	.	ENSG00000119777	ENST00000238788	T	0.44482	0.92	5.67	3.83	0.44106	.	0.332353	0.32273	N	0.006326	T	0.27419	0.0673	N	0.19112	0.55	0.58432	D	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.05370	-1.0889	10	0.29301	T	0.29	-0.2477	12.3036	0.54889	0.0:0.7561:0.1646:0.0794	.	187	Q6NUQ4	TM214_HUMAN	V	187	ENSP00000238788:A187V	ENSP00000238788:A187V	A	+	2	0	TMEM214	27112023	0.073000	0.21202	0.046000	0.18839	0.990000	0.78478	0.348000	0.20031	1.392000	0.46585	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	1	0	0	52	564	0	106	1	1	11	306	0	106	2		0	0	0	0	0	2	1	1	52	553	0	106	2								-13.256160	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.810000	1.000000	1.000000	0.977842	0.990000	1	9.400000e-01	1
TMEM214	54867	broad.mit.edu	37	2	27258869	27258869	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258869C>T	ENST00000238788.9	+	5	731	c.669C>T	c.(667-669)atC>atT	p.I223I	TMEM214_ENST00000404032.3_Silent_p.I178I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	p.I223I(1)		18					GCATCTGTATCCAGGCCATCC	0.512000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000238788.9	0	1	hg19	CCDS42664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	0	0	0	6	216	0	40	1	9.933555e-01	2	350	0	40	2		0	0	0	0	0	2	1	9.630609e-01	6	211	0	40	2								-3.439560	1	0	121110	1	28	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.360000	0.150000	0.690000	0.330000	0.393007	0.360000	0	2.400000e-01	5.300000e-01
TMEM214	54867	broad.mit.edu	37	2	27262629	27262629	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27262629C>A	ENST00000238788.9	+	14	1608	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I	TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214			18					TGGCCGGTTGCTTCGATCATC	0.597000																								0							SO:0001583	missense			ENST00000238788.9	1	1	hg19	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937911	0.73557	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135	T;T;T	0.52983	0.64;0.64;0.64	5.59	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.76328	2.33	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.67975	-0.5531	10	0.72032	D	0.01	-12.0634	10.6416	0.45596	0.0:0.8766:0.0:0.1234	.	471;516	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	I	516;471;256;176	ENSP00000238788:L516I;ENSP00000384417:L471I;ENSP00000392442:L176I	ENSP00000238788:L516I	L	+	1	0	TMEM214	27116133	0.996000	0.38824	0.998000	0.56505	0.965000	0.64279	1.541000	0.36126	2.640000	0.89533	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	1	0	1	146	432	0	115	1	1	37	235	0	115	2		0	0	0	0	0	2	1	1	145	421	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM214	54867	broad.mit.edu	37	2	27263359	27263359	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27263359A>G	ENST00000238788.9	+	16	2000	c.1938A>G	c.(1936-1938)gcA>gcG	p.A646A	TMEM214_ENST00000404032.3_Silent_p.A601A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214			18					GCCATGAGGCATGCAGGTGAG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000238788.9	1	1	hg19	CCDS42664.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	1	0	1	98	271	0	61	1	1	72	269	0	61	2		0	0	0	0	0	2	1	1	97	268	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGBL5	60509	broad.mit.edu	37	2	27282095	27282095	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27282095C>T	ENST00000360131.4	+	11	2071	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	AGBL5-IT1_ENST00000411862.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5			28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CACCTTGAGTCGGGCACGAAG	0.532000																								0							SO:0001583	missense			ENST00000360131.4	1	1	hg19	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002345	0.74932	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.18657	2.3;2.2	5.76	4.89	0.63831	.	0.110266	0.64402	D	0.000005	T	0.39009	0.1062	L	0.53249	1.67	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.19160	-1.0314	10	0.87932	D	0	-29.0721	9.6109	0.39663	0.14:0.7885:0.0:0.0715	.	638;638	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	W	638	ENSP00000323681:R638W;ENSP00000353249:R638W	ENSP00000323681:R638W	R	+	1	2	AGBL5	27135599	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	1.550000	0.36223	1.436000	0.47453	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	1	0	1	169	761	0	169	1	1	58	124	0	169	2		0	0	0	0	0	2	1	1	167	754	0	165	2								-20.000000	1	1	121412	3	40	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD1	84696	broad.mit.edu	37	2	27352776	27352776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27352776C>T	ENST00000316470.4	+	6	886	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1			5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CACTGCTGGGCTCTGCCAACT	0.562000																								0							SO:0001583	missense			ENST00000316470.4	1	1	hg19	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131254	0.56828	.	.	ENSG00000143994	ENST00000316470	T	0.71222	-0.55	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000008	D	0.88005	0.6321	M	0.93808	3.46	0.48762	D	0.9997	D	0.89917	1.0	D	0.87578	0.998	D	0.90798	0.4692	10	0.87932	D	0	-15.2943	16.0869	0.81060	0.0:1.0:0.0:0.0	.	258	Q96SE0	ABHD1_HUMAN	F	258	ENSP00000326491:L258F	ENSP00000326491:L258F	L	+	1	0	ABHD1	27206280	0.986000	0.35501	0.962000	0.40283	0.262000	0.26303	2.752000	0.47516	2.655000	0.90218	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	1	0	1	41	187	0	39	1	4.427711e-01	3	5	0	39	2		0	0	0	0	0	2	1	1	39	181	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF23	150921	broad.mit.edu	37	2	27372993	27372993	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27372993C>T	ENST00000296096.5	+	2	355	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23			14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTGTGCAGAGCGAGGCCAGTC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000296096.5	1	1	hg19	CCDS33163.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	0	0	0	12	439	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.990785e-01	12	434	0	76	2								-3.444152	1	1	121314	4	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.340000	0.180000	0.560000	0.330000	0.363675	0.340000	0	2.500000e-01	4.600000e-01
CAD	790	broad.mit.edu	37	2	27447894	27447894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27447894G>A	ENST00000403525.1	+	11	1547	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	CAD_ENST00000264705.4_Missense_Mutation_p.R468H			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	p.R468H(1)		92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CGTAATGAACGCCCCGATGGT	0.552000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000403525.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	27.0	4.791593	0.90367	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95447	-3.71;-3.71	5.13	5.13	0.70059	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.98423	1.0578	10	0.72032	D	0.01	-1.0777	17.111	0.86674	0.0:0.0:1.0:0.0	.	468;468	F8VPD4;P27708	.;PYR1_HUMAN	H	468	ENSP00000264705:R468H;ENSP00000384510:R468H	ENSP00000264705:R468H	R	+	2	0	CAD	27301398	1.000000	0.71417	0.951000	0.38953	0.816000	0.46133	9.229000	0.95273	2.383000	0.81215	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	1	45	245	1	53	1	8.926488e-01	15	35	1	53	5		0	0	0	0	0	2	1	1	45	240	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAD	790	broad.mit.edu	37	2	27449826	27449826	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27449826C>T	ENST00000403525.1	+	14	2238	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	CAD_ENST00000264705.4_Silent_p.S761S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase			92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GCATGAAGAGCGTTGGTGAGA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000403525.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	0	84	483	0	125	1	9.954091e-01	13	36	0	125	2		0	0	0	0	0	2	1	1	82	476	0	124	2								-3.222235	1	1	121412	4	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAD	790	broad.mit.edu	37	2	27454442	27454442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27454442C>T	ENST00000403525.1	+	15	2349	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	CAD_ENST00000264705.4_Silent_p.S798S|CAD_ENST00000464159.1_3'UTR			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase			92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				AACCAGTCAGCGATATGGTAA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000403525.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	0	32	149	0	29	1	9.952611e-01	10	32	0	29	2		0	0	0	0	0	2	1	1	30	145	0	29	2								-3.436670	1	1	121412	1	21	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAD	790	broad.mit.edu	37	2	27455960	27455960	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27455960C>T	ENST00000403525.1	+	18	2898	c.2754C>T	c.(2752-2754)acC>acT	p.T918T	CAD_ENST00000264705.4_Silent_p.T981T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase			92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CAGTCAGCACCGACTATGACA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000403525.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	0	11	310	0	51	0	6.074938e-01	1	56	0	51	2		0	0	0	0	0	2	1	9.981990e-01	11	303	0	51	2								-2.497141	0	1	121412	3	31	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.450000	0.230000	0.740000	0.430000	0.469392	0.450000	0	3.300000e-01	6.000000e-01
CAD	790	broad.mit.edu	37	2	27456554	27456554	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27456554C>A	ENST00000403525.1	+	20	3232	c.3088C>A	c.(3088-3090)Ctg>Atg	p.L1030M	CAD_ENST00000264705.4_Missense_Mutation_p.L1093M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase			92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTCCTATGTGCTGAGCGGTGC	0.592000																								0							SO:0001583	missense			ENST00000403525.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	28.9	4.956543	0.92726	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97976	-4.64;-4.64	5.95	5.95	0.96441	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98818	1.0746	10	0.87932	D	0	-1.0788	18.9357	0.92584	0.0:1.0:0.0:0.0	.	1030;1093	F8VPD4;P27708	.;PYR1_HUMAN	M	1093;1030	ENSP00000264705:L1093M;ENSP00000384510:L1030M	ENSP00000264705:L1093M	L	+	1	2	CAD	27310058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.908000	0.48750	2.826000	0.97356	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	0	0	1	79	354	1	82	1	9.968404e-01	12	67	1	82	6		0	0	0	0	0	2	1	1	79	350	1	82	18								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAD	790	broad.mit.edu	37	2	27460626	27460626	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27460626T>G	ENST00000403525.1	+	28	4559	c.4415T>G	c.(4414-4416)cTt>cGt	p.L1472R	CAD_ENST00000264705.4_Missense_Mutation_p.L1535R			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase			92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GCGCTATTCCTTGGGGCCTCG	0.617000																								0							SO:0001583	missense			ENST00000403525.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378391|3.378391	0.61735|0.61735	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	T;T|D	0.47869|0.89196	0.83;0.83|-2.48	4.62|4.62	3.45|3.45	0.39498|0.39498	Amidohydrolase 1 (1);|.	0.290888|0.290888	0.33199|0.33199	N|N	0.005177|0.005177	D|D	0.84179|0.84179	0.5415|0.5415	L|L	0.51422|0.51422	1.61|1.61	0.41139|0.41139	D|D	0.985948|0.985948	B;B|.	0.33044|.	0.078;0.395|.	B;B|.	0.39805|.	0.106;0.31|.	T|T	0.75019|0.75019	-0.3465|-0.3465	10|8	0.87932|0.02654	D|T	0|1	0.1571|0.1571	9.2306|9.2306	0.37434|0.37434	0.0:0.0881:0.0:0.9119|0.0:0.0881:0.0:0.9119	.|.	1472;1535|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	R|V	1535;1472|187	ENSP00000264705:L1535R;ENSP00000384510:L1472R|ENSP00000414742:L187V	ENSP00000264705:L1535R|ENSP00000414742:L187V	L|L	+|+	2|1	0|2	CAD|CAD	27314130|27314130	1.000000|1.000000	0.71417|0.71417	0.124000|0.124000	0.21820|0.21820	0.800000|0.800000	0.45204|0.45204	5.808000|5.808000	0.69165|0.69165	0.616000|0.616000	0.30141|0.30141	0.374000|0.374000	0.22700|0.22700	CTT|TTG		TCGA-IB-7651-01A-11D-2154-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	0	0	0	10	415	0	62	0	5.234890e-01	1	69	0	62	2		0	0	0	0	0	2	1	9.965253e-01	10	404	0	61	2								-9.502966	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.310000	0.150000	0.520000	0.300000	0.326317	0.310000	0	2.200000e-01	4.200000e-01
CAD	790	broad.mit.edu	37	2	27464813	27464813	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464813G>C	ENST00000403525.1	+	38	5873	c.5729G>C	c.(5728-5730)aGc>aCc	p.S1910T	CAD_ENST00000264705.4_Missense_Mutation_p.S1973T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase			92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TATGAAGTGAGCACACGGACC	0.592000																								0							SO:0001583	missense			ENST00000403525.1	0	1	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.2|26.2|26.2	4.718715|4.718715|4.718715	0.89205|0.89205|0.89205	.|.|.	.|.|.	ENSG00000084774|ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000456311|ENST00000264705;ENST00000403525	.|.|D;D	.|.|0.99784	.|.|-6.74;-6.74	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.99906|0.99906|0.99906	0.9955|0.9955|0.9955	H|H|H	0.99800|0.99800|0.99800	4.79|4.79|4.79	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.89917	.|.|1.0;0.997	.|.|D;D	.|.|0.97110	.|.|1.0;0.992	D|D|D	0.95862|0.95862|0.95862	0.8884|0.8884|0.8884	5|5|10	.|.|0.87932	.|.|D	.|.|0	-9.1427|-9.1427|-9.1427	16.9473|16.9473|16.9473	0.86232|0.86232|0.86232	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|1910;1973	.|.|F8VPD4;P27708	.|.|.;PYR1_HUMAN	P|D|T	9|277|1973;1910	.|.|ENSP00000264705:S1973T;ENSP00000384510:S1910T	.|.|ENSP00000264705:S1973T	A|E|S	+|+|+	1|3|2	0|2|0	CAD|CAD|CAD	27318317|27318317|27318317	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	9.249000|9.249000|9.249000	0.95470|0.95470|0.95470	2.347000|2.347000|2.347000	0.79759|0.79759|0.79759	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GCA|GAG|AGC		TCGA-IB-7651-01A-11D-2154-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	0	0	0	8	245	0	45	1	8.535084e-01	6	103	0	45	2		0	0	0	0	0	2	1	9.896891e-01	8	245	0	45	2								-9.167559	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.420000	0.190000	0.740000	0.390000	0.444649	0.420000	0	2.900000e-01	5.800000e-01
CAD	790	broad.mit.edu	37	2	27464907	27464907	+	Silent	SNP	C	C	T	rs61737366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464907C>T	ENST00000403525.1	+	38	5967	c.5823C>T	c.(5821-5823)ggC>ggT	p.G1941G	CAD_ENST00000264705.4_Silent_p.G2004G			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase			92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TCCAGAAGGGCGAATCCCTGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000403525.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	8.492	0.862142	0.17178	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.2	-6.68	0.01778	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41556	-0.9502	4	.	.	.	-9.1727	3.1304	0.06421	0.1408:0.3731:0.0805:0.4056	rs61737366	.	.	.	V	40	.	.	A	+	2	0	CAD	27318411	0.008000	0.16893	0.454000	0.27019	0.797000	0.45037	-1.082000	0.03400	-1.083000	0.03097	-0.424000	0.05967	GCG		TCGA-IB-7651-01A-11D-2154-08	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	1	0	1	89	266	0	65	1	1	34	44	0	65	2		0	0	0	0	0	2	1	1	87	265	0	64	2								-20.000000	1	0	121410	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC30A3	7781	broad.mit.edu	37	2	27479733	27479733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27479733C>A	ENST00000233535.4	-	6	1158	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3			20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GAGGAAGGTGCTGATGGGGTC	0.562000																								0							SO:0001583	missense			ENST00000233535.4	1	1	hg19	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135643	0.77662	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351	T;T;T	0.61392	0.11;0.11;0.11	5.34	5.34	0.76211	.	0.087859	0.85682	D	0.000000	T	0.37544	0.1007	N	0.01454	-0.855	0.49389	D	0.999782	B;B	0.26577	0.126;0.153	B;B	0.34346	0.113;0.18	T	0.49204	-0.8964	10	0.87932	D	0	-16.6047	16.9157	0.86150	0.0:1.0:0.0:0.0	.	264;269	F5H3B7;Q99726	.;ZNT3_HUMAN	I	269;264;206;220	ENSP00000233535:S269I;ENSP00000415226:S264I;ENSP00000414320:S220I	ENSP00000233535:S269I	S	-	2	0	SLC30A3	27333237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.605000	0.82844	2.663000	0.90544	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2	0	0	1	67	155	0	36	0	9.309524e-02	0	2	0	36	2		0	0	0	0	0	2	1	1	64	151	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC30A3	7781	broad.mit.edu	37	2	27480182	27480182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27480182C>T	ENST00000233535.4	-	5	969	c.617G>A	c.(616-618)aGc>aAc	p.S206N	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3			20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				AGACCCGTGGCTGTGGGGGGG	0.662000																								0							SO:0001583	missense			ENST00000233535.4	1	1	hg19	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018026	0.75275	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351;ENST00000426924	T;T;T;T	0.80033	-0.38;-0.37;-1.31;-1.33	5.23	5.23	0.72850	.	0.258927	0.43919	D	0.000511	D	0.83064	0.5173	M	0.63428	1.95	0.48395	D	0.999647	P;P	0.45634	0.863;0.774	P;P	0.49953	0.614;0.627	T	0.79848	-0.1630	10	0.21540	T	0.41	-15.5946	16.6802	0.85290	0.0:1.0:0.0:0.0	.	201;206	F5H3B7;Q99726	.;ZNT3_HUMAN	N	206;201;143;157;193	ENSP00000233535:S206N;ENSP00000415226:S201N;ENSP00000414320:S157N;ENSP00000393545:S193N	ENSP00000233535:S206N	S	-	2	0	SLC30A3	27333686	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.237000	0.51344	2.605000	0.88082	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2	1	0	1	20	144	0	32	0	0	1	0	0	32	2		0	0	0	0	0	2	1	9.999959e-01	20	140	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998009	0.990000	1	9.900000e-01	1
DNAJC5G	285126	broad.mit.edu	37	2	27500629	27500629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27500629G>A	ENST00000296097.3	+	4	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	DNAJC5G_ENST00000406962.1_Intron|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000404433.1_Intron	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma			10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CAGCCATTCCGCATTGCTTCC	0.498000																								0							SO:0001583	missense			ENST00000296097.3	1	1	hg19	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439068	0.25900	.	.	ENSG00000163793	ENST00000296097;ENST00000402462	T;T	0.36878	1.23;1.23	4.23	-0.292	0.12839	Heat shock protein DnaJ, N-terminal (3);	4.417190	0.01975	N	0.044361	T	0.32912	0.0845	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.16289	0.015	T	0.46414	-0.9193	10	0.66056	D	0.02	.	13.6002	0.62015	0.0:0.3233:0.6767:0.0	.	41	Q8N7S2	DNJ5G_HUMAN	T	41	ENSP00000296097:A41T;ENSP00000384305:A41T	ENSP00000296097:A41T	A	+	1	0	DNAJC5G	27354133	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.233000	0.09041	0.116000	0.18110	-0.387000	0.06579	GCA		TCGA-IB-7651-01A-11D-2154-08	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	1	0	1	149	391	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	143	382	0	127	2								-8.327317	1	1	121412	6	46	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM54	57159	broad.mit.edu	37	2	27528685	27528685	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27528685G>T	ENST00000380075.2	+	5	1183	c.843G>T	c.(841-843)caG>caT	p.Q281H	TRIM54_ENST00000296098.4_Splice_Site_p.Q323H	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TGTATCTCCAGGTGGGCTCTA	0.607000																								0							SO:0001630	splice_region_variant			ENST00000380075.2	0	0	hg19	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694982	0.68386	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.54675	0.94;0.56	4.85	4.85	0.62838	COS domain (1);	0.067207	0.64402	D	0.000009	T	0.45478	0.1344	L	0.34521	1.04	0.80722	D	1	B;B	0.23735	0.017;0.09	B;B	0.26202	0.047;0.067	T	0.47787	-0.9090	10	0.87932	D	0	-20.6728	15.4542	0.75299	0.0:0.0:1.0:0.0	.	281;323	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	H	281;102;323	ENSP00000369415:Q281H;ENSP00000296098:Q323H	ENSP00000296098:Q323H	Q	+	3	2	TRIM54	27382189	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.555000	0.98123	2.235000	0.73313	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	1	0	1	8	56	0	10	0	2.035278e-02	0	2	0	10	2		0	0	0	0	0	2	1	9.889494e-01	7	54	0	10	2								-15.233330	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.780000	1.000000	1.000000	0.986901	0.990000	1	9.900000e-01	1
GTF3C2	2976	broad.mit.edu	37	2	27551397	27551397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27551397C>T	ENST00000359541.2	-	16	2623	c.2194G>A	c.(2194-2196)Gct>Act	p.A732T	MPV17_ENST00000357186.6_5'Flank|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa			38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GGTAATATAGCAGCAATGAGC	0.423000																								0							SO:0001583	missense			ENST00000359541.2	1	1	hg19	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.77|19.77	3.889692|3.889692	0.72524|0.72524	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098	T;T|.	0.73469|.	-0.75;-0.75|.	5.23|5.23	5.23|5.23	0.72850|0.72850	WD40 repeat-like-containing domain (1);|.	0.331763|.	0.32935|.	N|.	0.005470|.	T|T	0.32882|0.32882	0.0844|0.0844	N|N	0.12182|0.12182	0.205|0.205	0.35012|0.35012	D|D	0.757022|0.757022	D|.	0.57257|.	0.979|.	P|.	0.51777|.	0.679|.	T|T	0.40794|0.40794	-0.9544|-0.9544	10|5	0.14252|.	T|.	0.57|.	-11.2681|-11.2681	10.1613|10.1613	0.42853|0.42853	0.0:0.9092:0.0:0.0908|0.0:0.9092:0.0:0.0908	.|.	732|.	Q8WUA4|.	TF3C2_HUMAN|.	T|Y	732|25	ENSP00000352536:A732T;ENSP00000264720:A732T|.	ENSP00000264720:A732T|.	A|C	-|-	1|2	0|0	GTF3C2|GTF3C2	27404901|27404901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.393000|4.393000	0.59665|0.59665	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GCT|TGC		TCGA-IB-7651-01A-11D-2154-08	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2	0	0	1	112	309	0	69	1	1	67	113	0	69	2		0	0	0	0	0	2	1	1	108	303	0	68	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTF3C2	2976	broad.mit.edu	37	2	27565074	27565074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27565074G>A	ENST00000359541.2	-	4	1025	c.596C>T	c.(595-597)gCt>gTt	p.A199V	AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa			38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GAGCTCTTCAGCCAGTTCCTG	0.562000																								0							SO:0001583	missense			ENST00000359541.2	1	1	hg19	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908321	0.92107	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	D;D	0.82984	-1.67;-1.67	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	N	0.24115	0.695	0.51482	D	0.999922	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.80764	0.994;0.978;0.994	D	0.86109	0.1561	10	0.48119	T	0.1	-11.8481	16.7685	0.85529	0.0:0.0:1.0:0.0	.	199;199;199	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	V	199	ENSP00000352536:A199V;ENSP00000264720:A199V	ENSP00000264720:A199V	A	-	2	0	GTF3C2	27418578	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.583000	0.67484	2.570000	0.86706	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2	0	0	1	75	179	0	49	1	1	48	81	0	49	2		0	0	0	0	0	2	1	1	75	176	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX17	9784	broad.mit.edu	37	2	27598482	27598482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27598482G>A	ENST00000233575.2	+	10	1106	c.884G>A	c.(883-885)aGt>aAt	p.S295N	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|SNX17_ENST00000542478.1_Missense_Mutation_p.S81N|SNX17_ENST00000537606.1_Missense_Mutation_p.S270N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17			14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GCGGGCAACAGTGAGCTCAGC	0.632000																								0							SO:0001583	missense			ENST00000233575.2	1	1	hg19	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307244	0.23821	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.28069	2.05;1.69;1.63;1.69	5.84	4.91	0.64330	.	0.077057	0.85682	D	0.000000	T	0.04452	0.0122	N	0.00062	-2.325	0.45390	D	0.998378	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43669	-0.9377	10	0.05436	T	0.98	-6.7693	5.6777	0.17757	0.1522:0.1736:0.6742:0.0	.	270;283;275;295	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	N	295;81;270;81	ENSP00000233575:S295N;ENSP00000441779:S81N;ENSP00000439208:S270N;ENSP00000442567:S81N	ENSP00000233575:S295N	S	+	2	0	SNX17	27451986	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.715000	0.61909	2.768000	0.95171	0.561000	0.74099	AGT		TCGA-IB-7651-01A-11D-2154-08	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	0	0	1	113	583	1	123	1	1	209	671	1	123	23		0	0	0	0	0	2	1	1	111	574	1	121	19								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPM1G	5496	broad.mit.edu	37	2	27605361	27605361	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27605361A>T	ENST00000344034.4	-	8	1577	c.1313T>A	c.(1312-1314)aTt>aAt	p.I438N	ZNF513_ENST00000407879.1_5'Flank|ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G			19	Acute lymphoblastic leukemia(172;0.155)				ATCACAGGCAATGACCATGAA	0.478000																								0							SO:0001583	missense			ENST00000344034.4	1	1	hg19	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943702	0.73672	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.19806	2.12;2.12	5.64	5.64	0.86602	Protein phosphatase 2C-like (5);	0.049370	0.85682	D	0.000000	T	0.55955	0.1953	M	0.93150	3.385	0.80722	D	1	D;D	0.69078	0.997;0.986	D;P	0.67725	0.953;0.876	T	0.68640	-0.5355	10	0.87932	D	0	-6.7713	14.697	0.69129	1.0:0.0:0.0:0.0	.	239;438	Q59GB2;O15355	.;PPM1G_HUMAN	N	438;438;421;239	ENSP00000342778:I438N;ENSP00000264714:I438N	ENSP00000342778:I438N	I	-	2	0	PPM1G	27458865	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.072000	0.93986	2.155000	0.67459	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	1	0	1	230	621	0	159	1	1	95	196	0	159	2		0	0	0	0	0	2	1	1	224	612	0	158	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRBP1	29959	broad.mit.edu	37	2	27659651	27659651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27659651G>A	ENST00000233557.3	+	9	1525	c.693G>A	c.(691-693)aaG>aaA	p.K231K	NRBP1_ENST00000379852.3_Silent_p.K231K|NRBP1_ENST00000379863.3_Silent_p.K239K			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1			19	Acute lymphoblastic leukemia(172;0.155)				ATCATGTGAAGACTTGTCGAG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000233557.3	1	1	hg19	CCDS1753.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	1	0	0	82	243	0	78	1	1	260	512	0	78	2		0	0	0	0	0	2	1	1	80	234	0	78	2								-5.331955	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRBP1	29959	broad.mit.edu	37	2	27664444	27664444	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27664444C>T	ENST00000233557.3	+	18	2290	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379852.3_Silent_p.I486I|NRBP1_ENST00000379863.3_Silent_p.I494I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1			19	Acute lymphoblastic leukemia(172;0.155)				ATGAGAATATCCCCGAGTTGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000233557.3	1	1	hg19	CCDS1753.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	0	0	0	205	639	0	156	1	1	253	496	0	156	2		0	0	0	0	0	2	1	1	197	617	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT172	26160	broad.mit.edu	37	2	27670790	27670790	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27670790C>A	ENST00000260570.3	-	41	4532		c.e41-1			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172			43	Acute lymphoblastic leukemia(172;0.155)				TATTGAAGTTCTAGAGGTAGA	0.493000																								0							SO:0001630	splice_region_variant			ENST00000260570.3	1	1	hg19	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034579	0.75617	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6508	0.88163	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27524294	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.616000	0.61197	2.524000	0.85096	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	0	0	0	73	251	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	73	240	1	69	16								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT172	26160	broad.mit.edu	37	2	27677000	27677000	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27677000G>T	ENST00000260570.3	-	33	3663	c.3560C>A	c.(3559-3561)gCt>gAt	p.A1187D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172			43	Acute lymphoblastic leukemia(172;0.155)				CACACGCTGAGCTGCCTCCCA	0.592000																								0							SO:0001583	missense			ENST00000260570.3	1	1	hg19	CCDS1755.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.404703|5.404703	0.96051|0.96051	.|.	.|.	ENSG00000138002|ENSG00000138002	ENST00000260570|ENST00000443889	T|.	0.55760|.	0.5|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86564|0.86564	0.5963|0.5963	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89274|0.89274	0.3607|0.3607	10|5	0.87932|.	D|.	0|.	-8.8992|-8.8992	18.3852|18.3852	0.90464|0.90464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1187|.	Q9UG01|.	IF172_HUMAN|.	D|R	1187|55	ENSP00000260570:A1187D|.	ENSP00000260570:A1187D|.	A|S	-|-	2|3	0|2	IFT172|IFT172	27530504|27530504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.053000|9.053000	0.93860|0.93860	2.693000|2.693000	0.91896|0.91896	0.462000|0.462000	0.41574|0.41574	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	1	0	1	157	791	1	139	1	7.687470e-01	3	13	1	139	2		0	0	0	0	0	2	1	1	155	784	1	139	22								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT172	26160	broad.mit.edu	37	2	27680845	27680845	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27680845T>C	ENST00000260570.3	-	28	3079		c.e28-2			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172			43	Acute lymphoblastic leukemia(172;0.155)				ACATATAGCCTGGGGAAGGAG	0.542000																								0							SO:0001630	splice_region_variant			ENST00000260570.3	1	1	hg19	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701772	0.48307	.	.	ENSG00000138002	ENST00000260570	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.467	0.75409	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27534349	1.000000	0.71417	0.990000	0.47175	0.378000	0.30076	7.447000	0.80620	2.330000	0.79161	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	1	0	1	122	346	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	120	340	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT172	26160	broad.mit.edu	37	2	27684682	27684682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27684682C>T	ENST00000260570.3	-	21	2240	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172			43	Acute lymphoblastic leukemia(172;0.155)				TGGTACATGCCCATGGCCTCC	0.517000																								0							SO:0001583	missense			ENST00000260570.3	1	1	hg19	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185459	0.38609	.	.	ENSG00000138002	ENST00000260570	T	0.20738	2.05	5.46	1.68	0.24146	Tetratricopeptide-like helical (1);	0.542765	0.22378	N	0.060846	T	0.09949	0.0244	N	0.12746	0.255	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.24584	-1.0156	10	0.19147	T	0.46	-3.4826	8.2106	0.31481	0.0:0.6061:0.0:0.3939	.	713	Q9UG01	IF172_HUMAN	S	713	ENSP00000260570:G713S	ENSP00000260570:G713S	G	-	1	0	IFT172	27538186	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.139000	0.31504	0.032000	0.15435	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	1	0	1	58	193	0	67	0	8.636953e-01	1	13	0	67	2		0	0	0	0	0	2	1	1	58	188	0	67	2								-3.679282	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCKR	2646	broad.mit.edu	37	2	27728602	27728602	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27728602C>T	ENST00000264717.2	+	10	831	c.768C>T	c.(766-768)ggC>ggT	p.G256G	GCKR_ENST00000424318.2_Silent_p.G66G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator			29	Acute lymphoblastic leukemia(172;0.155)				GTCTCAGCGGCTCCTCCCGGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000264717.2	1	1	hg19	CCDS1757.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	1	0	0	34	333	0	86	1	8.438689e-01	9	26	0	86	2		0	0	0	0	0	2	1	1	34	330	0	85	2								-3.318794	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.840000	1.000000	1.000000	0.987365	0.990000	1	9.900000e-01	1
GCKR	2646	broad.mit.edu	37	2	27729396	27729396	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27729396C>A	ENST00000264717.2	+	11	981	c.918C>A	c.(916-918)acC>acA	p.T306T	GCKR_ENST00000424318.2_Silent_p.T116T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator			29	Acute lymphoblastic leukemia(172;0.155)				ATCAGGTGACCTACAGCCAAA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000264717.2	1	1	hg19	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	2.471	-0.321828	0.05386	.	.	ENSG00000084734	ENST00000411584	.	.	.	4.66	2.87	0.33458	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51880	-0.8649	4	.	.	.	-4.4669	8.7283	0.34483	0.0:0.8131:0.0:0.1869	.	.	.	.	H	7	.	.	P	+	2	0	GCKR	27582900	1.000000	0.71417	0.970000	0.41538	0.338000	0.28826	1.012000	0.29924	0.579000	0.29504	-0.251000	0.11542	CCT		TCGA-IB-7651-01A-11D-2154-08	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	1	0	1	59	280	0	52	1	9.804411e-01	3	29	0	52	2		0	0	0	0	0	2	1	1	59	272	0	49	2								-3.075029	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCKR	2646	broad.mit.edu	37	2	27730853	27730853	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27730853C>G	ENST00000264717.2	+	15	1313	c.1250C>G	c.(1249-1251)aCg>aGg	p.T417R	GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator			29	Acute lymphoblastic leukemia(172;0.155)				GACAACCTCACGGAGGTGCAG	0.587000																								0							SO:0001583	missense			ENST00000264717.2	1	1	hg19	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.050|0.050	-1.253246|-1.253246	0.01457|0.01457	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000411584|ENST00000264717;ENST00000424318	.|D;D	.|0.83163	.|-1.69;-1.69	4.22|4.22	-5.34|-5.34	0.02705|0.02705	.|Sugar isomerase (SIS) (1);	.|1.403430	.|0.04249	.|N	.|0.338374	T|T	0.67477|0.67477	0.2897|0.2897	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.15141	.|0.01;0.012;0.01	.|B;B;B	.|0.15870	.|0.006;0.014;0.01	T|T	0.51450|0.51450	-0.8704|-0.8704	5|10	.|0.25106	.|T	.|0.35	0.8822|0.8822	4.6676|4.6676	0.12673|0.12673	0.2519:0.2608:0.0:0.4873|0.2519:0.2608:0.0:0.4873	.|.	.|227;415;417	.|F5H1P6;A8K731;Q14397	.|.;.;GCKR_HUMAN	G|R	118|417;227	.|ENSP00000264717:T417R;ENSP00000409109:T227R	.|ENSP00000264717:T417R	R|T	+|+	1|2	2|0	GCKR|GCKR	27584357|27584357	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-1.289000|-1.289000	0.02780|0.02780	-1.548000|-1.548000	0.01712|0.01712	-1.648000|-1.648000	0.00760|0.00760	CGG|ACG		TCGA-IB-7651-01A-11D-2154-08	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	1	0	1	28	164	0	43	1	9.969146e-01	4	52	0	43	2		0	0	0	0	0	2	1	1	28	158	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
C2orf16	84226	broad.mit.edu	37	2	27801528	27801528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801528G>A	ENST00000408964.2	+	1	2140	c.2089G>A	c.(2089-2091)Gtt>Att	p.V697I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16			47	Acute lymphoblastic leukemia(172;0.155)				GCCTCCTAAAGTTATGGAAAC	0.408000																								0							SO:0001583	missense			ENST00000408964.2	1	1	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	3.289	-0.145322	0.06627	.	.	ENSG00000221843	ENST00000408964	T	0.07567	3.18	4.27	1.33	0.21861	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.23419	0.046	T	0.46624	-0.9178	9	0.19590	T	0.45	.	2.6937	0.05128	0.1072:0.1794:0.5284:0.185	.	697	Q68DN1	CB016_HUMAN	I	697	ENSP00000386190:V697I	ENSP00000386190:V697I	V	+	1	0	C2orf16	27655032	0.556000	0.26538	0.135000	0.22099	0.102000	0.19082	0.941000	0.29005	0.277000	0.22141	-0.264000	0.10439	GTT		TCGA-IB-7651-01A-11D-2154-08	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1	70	475	0	87	1	2.790647e-01	4	4	0	87	2		0	0	0	0	0	2	1	1	67	467	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C2orf16	84226	broad.mit.edu	37	2	27801881	27801881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801881G>T	ENST00000408964.2	+	1	2493	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16			47	Acute lymphoblastic leukemia(172;0.155)				CATGTCCTGAGATTCTAGGAG	0.398000																								0							SO:0001583	missense			ENST00000408964.2	1	1	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538403	0.45176	.	.	ENSG00000221843	ENST00000408964	T	0.09630	2.96	5.14	2.19	0.27852	.	.	.	.	.	T	0.16769	0.0403	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.10132	-1.0643	9	0.87932	D	0	.	5.7705	0.18251	0.1875:0.1622:0.6503:0.0	.	814	Q68DN1	CB016_HUMAN	D	814	ENSP00000386190:E814D	ENSP00000386190:E814D	E	+	3	2	C2orf16	27655385	0.137000	0.22531	0.546000	0.28166	0.510000	0.34073	0.660000	0.25009	0.685000	0.31468	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	0	0	0	43	1118	0	208	0	1.462623e-03	0	2	0	208	2		0	0	0	0	0	2	1	1	43	1098	0	208	2								-4.106525	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.470000	0.340000	0.620000	0.480000	0.481576	0.470000	0	4.000000e-01	5.500000e-01
C2orf16	84226	broad.mit.edu	37	2	27802900	27802900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27802900G>A	ENST00000408964.2	+	1	3512	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16			47	Acute lymphoblastic leukemia(172;0.155)				CACCTTGTACGCACTCCTGAA	0.468000																								0							SO:0001583	missense			ENST00000408964.2	1	1	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395537	0.62066	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	5.19	3.37	0.38596	.	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.22779	N	0.998746	P	0.38110	0.618	B	0.27380	0.079	T	0.40646	-0.9552	9	0.54805	T	0.06	.	6.8869	0.24208	0.2046:0.0:0.7954:0.0	.	1154	Q68DN1	CB016_HUMAN	H	1154	ENSP00000386190:R1154H	ENSP00000386190:R1154H	R	+	2	0	C2orf16	27656404	0.998000	0.40836	1.000000	0.80357	0.708000	0.40852	1.947000	0.40293	1.177000	0.42855	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1	190	471	0	112	1	6.435725e-01	3	4	0	112	2		0	0	0	0	0	2	1	1	188	463	0	109	2								-20.000000	1	1	120978	2	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf16	84226	broad.mit.edu	37	2	27803149	27803149	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803149G>A	ENST00000408964.2	+	1	3761	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16			47	Acute lymphoblastic leukemia(172;0.155)				CGAGGACAACGCAGCAGGCCT	0.478000																								0							SO:0001583	missense			ENST00000408964.2	1	1	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159046	0.01686	0.001061	0.0	ENSG00000221843	ENST00000408964	T	0.05786	3.39	5.05	-1.97	0.07503	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48305	-0.9047	9	0.15499	T	0.54	.	6.9067	0.24313	0.2042:0.2035:0.5923:0.0	.	1237	Q68DN1	CB016_HUMAN	H	1237	ENSP00000386190:R1237H	ENSP00000386190:R1237H	R	+	2	0	C2orf16	27656653	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.725000	0.04942	-0.296000	0.08947	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1	137	651	0	160	0	1.430348e-01	0	4	0	160	2		0	0	0	0	0	2	1	1	135	639	0	158	2								-4.693741	1	1	120836	18	46	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf16	84226	broad.mit.edu	37	2	27803687	27803687	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803687G>A	ENST00000408964.2	+	1	4299	c.4248G>A	c.(4246-4248)acG>acA	p.T1416T	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16			47	Acute lymphoblastic leukemia(172;0.155)				ACAAGCTAACGCCAGCAGGCT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000408964.2	1	1	hg19	CCDS42666.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	0	50	568	0	127	0	6.887954e-03	1	1	0	127	2		0	0	0	0	0	2	1	1	49	563	0	127	2								-12.880700	1	1	120950	2	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.780000	1.000000	1.000000	0.964176	0.990000	1	8.900000e-01	1
C2orf16	84226	broad.mit.edu	37	2	27804403	27804403	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27804403G>A	ENST00000408964.2	+	1	5015	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16			47	Acute lymphoblastic leukemia(172;0.155)				AGAAGCCATCGCAGTCCCTCA	0.572000																								0							SO:0001583	missense			ENST00000408964.2	1	1	hg19	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823735	0.32237	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.39	-4.4	0.03600	.	.	.	.	.	T	0.05593	0.0147	L	0.56769	1.78	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.41360	-0.9513	9	0.48119	T	0.1	.	1.1788	0.01841	0.3834:0.2679:0.2131:0.1356	.	1655	Q68DN1	CB016_HUMAN	H	1655	ENSP00000386190:R1655H	ENSP00000386190:R1655H	R	+	2	0	C2orf16	27657907	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.704000	0.00822	-1.327000	0.02264	-0.657000	0.03884	CGC		TCGA-IB-7651-01A-11D-2154-08	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	1	0	1	391	1064	0	319	0	5.095110e-01	1	5	0	319	2		0	0	0	0	0	2	1	1	349	1384	0	386	2								-12.940710	1	1	120822	16	45	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPN1	11321	broad.mit.edu	37	2	27858050	27858050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27858050C>T	ENST00000610189.1	+	7	480	c.473C>T	c.(472-474)tCg>tTg	p.S158L	GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_Missense_Mutation_p.S172L	NM_007266.3	NP_009197.2			GPN-loop GTPase 1			14					ATGGACACATCGAGAAGTACC	0.448000																								0							SO:0001583	missense			ENST00000610189.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173807	0.78452	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.96	5.96	0.96718	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.46885	1.475	0.58432	D	0.999999	B;P;B;P	0.48503	0.163;0.911;0.386;0.64	B;P;B;B	0.47206	0.046;0.541;0.108;0.265	T	0.00271	-1.1859	9	.	.	.	-16.5273	17.1122	0.86679	0.0:1.0:0.0:0.0	.	158;172;63;146	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	L	79;63;63;79;146;172	ENSP00000424678:S79L;ENSP00000427269:S63L;ENSP00000412170:S63L;ENSP00000398115:S79L;ENSP00000384255:S146L;ENSP00000264718:S172L	.	S	+	2	0	GPN1	27711554	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	7.061000	0.76699	2.820000	0.97059	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	1	0	1	87	448	0	90	1	1	55	185	0	90	2		0	0	0	0	0	2	1	1	83	429	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC4A1AP	22950	broad.mit.edu	37	2	27886811	27886811	+	Silent	SNP	C	C	A	rs139689483	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27886811C>A	ENST00000326019.6	+	1	474	c.192C>A	c.(190-192)acC>acA	p.T64T	SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000464789.2_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein			23	Acute lymphoblastic leukemia(172;0.155)				AGTCAGAGACCCTGGCGTCGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000326019.6	1	1	hg19	CCDS33166.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	1	0	1	100	593	0	115	1	9.999996e-01	33	89	0	115	2		0	0	0	0	0	2	1	1	100	581	0	112	2								-2.841708	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBKS	64080	broad.mit.edu	37	2	28050516	28050516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28050516G>A	ENST00000302188.3	-	7	1465	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase			7	Acute lymphoblastic leukemia(172;0.155)				ACATCCTTCAGCCCCTAAGGT	0.498000																								0							SO:0001583	missense			ENST00000302188.3	1	1	hg19	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669094	0.47677	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.77750	-1.12;-1.12	5.73	4.84	0.62591	Carbohydrate/purine kinase (1);	0.385463	0.32015	N	0.006714	T	0.77961	0.4209	M	0.74647	2.275	0.36951	D	0.892843	P;P	0.50272	0.873;0.933	B;B	0.43754	0.189;0.43	T	0.82997	-0.0179	10	0.54805	T	0.06	-4.4051	11.6494	0.51279	0.0:0.1345:0.7256:0.1399	.	238;238	B4DV96;Q9H477	.;RBSK_HUMAN	V	238	ENSP00000306817:A238V;ENSP00000413232:A238V	ENSP00000306817:A238V	A	-	2	0	RBKS	27904020	0.952000	0.32445	0.115000	0.21578	0.683000	0.39861	3.493000	0.53266	1.392000	0.46585	0.491000	0.48974	GCT		TCGA-IB-7651-01A-11D-2154-08	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	1	0	1	110	310	0	88	1	1	38	42	0	88	2		0	0	0	0	0	2	1	1	108	304	0	88	2								-6.342826	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBKS	64080	broad.mit.edu	37	2	28081321	28081321	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28081321C>T	ENST00000302188.3	-	2	959	c.207G>A	c.(205-207)acG>acA	p.T69T	RBKS_ENST00000444339.2_Silent_p.T69T	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase			7	Acute lymphoblastic leukemia(172;0.155)				ACACCATGGACGTCATTGCTC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000302188.3	1	1	hg19	CCDS1762.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	1	0	1	22	309	0	56	1	9.602971e-01	15	62	0	56	2		0	0	0	0	0	2	1	9.999984e-01	21	299	0	55	2								-6.808113	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.850000	0.550000	1.000000	1.000000	0.846693	0.850000	1	6.900000e-01	1
FOSL2	2355	broad.mit.edu	37	2	28634796	28634796	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28634796G>T	ENST00000264716.4	+	4	1325		c.e4-1		FOSL2_ENST00000379619.1_Missense_Mutation_p.Q146H|FOSL2_ENST00000545753.1_Splice_Site	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2			14	Acute lymphoblastic leukemia(172;0.155)				TTCCGTGGCAGGAGACAGAGG	0.542000																								0							SO:0001630	splice_region_variant			ENST00000264716.4	0	1	hg19	CCDS1766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.789324|3.789324	0.70337|0.70337	.|.	.|.	ENSG00000075426|ENSG00000075426	ENST00000264716;ENST00000436647;ENST00000545753|ENST00000379619	.|T	.|0.76709	.|-1.04	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86698	.|0.5995	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86468	.|0.1783	.|6	.|0.49607	.|T	.|0.09	.|.	19.3591|19.3591	0.94428|0.94428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|146	.|ENSP00000368939:Q146H	.|ENSP00000368939:Q146H	.|Q	+|+	.|3	.|2	FOSL2|FOSL2	28488300|28488300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	9.649000|9.649000	0.98487|0.98487	2.746000|2.746000	0.94184|0.94184	0.650000|0.650000	0.86243|0.86243	.|CAG		TCGA-IB-7651-01A-11D-2154-08	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	0	0	0	8	337	0	65	1	9.811343e-02	14	6	0	65	2		0	0	0	0	0	2	1	9.883877e-01	8	328	0	62	2								-3.683400	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.310000	0.140000	0.550000	0.300000	0.327955	0.310000	0	2.100000e-01	4.300000e-01
FOSL2	2355	broad.mit.edu	37	2	28635000	28635000	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28635000A>T	ENST00000264716.4	+	4	1529	c.666A>T	c.(664-666)aaA>aaT	p.K222N	FOSL2_ENST00000379619.1_Missense_Mutation_p.K214N|FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2			14	Acute lymphoblastic leukemia(172;0.155)				TAGTGGTGAAACAGGAGCCCC	0.672000																								0							SO:0001583	missense			ENST00000264716.4	1	1	hg19	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577826	0.45902	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	D;T;T;T	0.81499	-1.5;-0.4;-1.36;-1.39	5.05	-5.02	0.02982	.	0.900315	0.08935	U	0.872467	T	0.78304	0.4262	M	0.66378	2.025	0.58432	D	0.999998	B	0.24043	0.096	B	0.18263	0.021	T	0.59440	-0.7454	10	0.66056	D	0.02	-18.8801	17.6979	0.88286	0.1005:0.0:0.8995:0.0	.	222	P15408	FOSL2_HUMAN	N	214;222;183;183	ENSP00000368939:K214N;ENSP00000264716:K222N;ENSP00000396497:K183N;ENSP00000439303:K183N	ENSP00000264716:K222N	K	+	3	2	FOSL2	28488504	0.203000	0.23435	0.741000	0.31004	0.960000	0.62799	-0.018000	0.12568	-1.543000	0.01723	-0.411000	0.06167	AAA		TCGA-IB-7651-01A-11D-2154-08	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	0	0	1	78	418	0	78	1	1	46	134	0	78	2		0	0	0	0	0	2	1	1	77	408	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLB1	151056	broad.mit.edu	37	2	28748771	28748771	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28748771G>A	ENST00000327757.5	+	6	328		c.e6-1		PLB1_ENST00000422425.2_Splice_Site	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1			69	Acute lymphoblastic leukemia(172;0.155)				TCTACCTGCAGGACTGAAAGG	0.532000																								0							SO:0001630	splice_region_variant			ENST00000327757.5	0	1	hg19	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812568	0.50527	.	.	ENSG00000163803	ENST00000416713;ENST00000327757;ENST00000422425;ENST00000404858	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3317	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLB1	28602275	1.000000	0.71417	0.907000	0.35723	0.068000	0.16541	4.141000	0.58038	2.779000	0.95612	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2	0	0	0	7	227	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.804737e-01	7	225	0	40	2								-3.450173	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.400000	0.170000	0.730000	0.390000	0.426608	0.400000	0	2.700000e-01	5.700000e-01
PPP1CB	5500	broad.mit.edu	37	2	29004680	29004680	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29004680G>T	ENST00000395366.2	+	4	764	c.492G>T	c.(490-492)gtG>gtT	p.V164V	PPP1CB_ENST00000358506.2_Silent_p.V164V|PPP1CB_ENST00000296122.6_Silent_p.V164V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme			9	Acute lymphoblastic leukemia(172;0.155)				CAGCCATTGTGGATGAGAAGA	0.318000																								0							SO:0001819	synonymous_variant			ENST00000395366.2	1	1	hg19	CCDS33169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1	1	0	1	80	336	0	56	1	1	159	613	0	56	2		0	0	0	0	0	2	1	1	79	327	0	55	2								-2.914194	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRMT61B	55006	broad.mit.edu	37	2	29092543	29092543	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092543G>T	ENST00000306108.5	-	1	624	c.601C>A	c.(601-603)Ctg>Atg	p.L201M		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)			13					GAACTCCTCAGTATCTGGCCG	0.468000																								0							SO:0001583	missense			ENST00000306108.5	1	1	hg19	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277361	0.59758	.	.	ENSG00000171103	ENST00000306108	T	0.27402	1.67	5.5	2.6	0.31112	.	0.482216	0.18300	N	0.145454	T	0.44008	0.1273	L	0.54323	1.7	0.09310	N	1	P;D	0.65815	0.809;0.995	P;D	0.64595	0.66;0.927	T	0.11012	-1.0605	10	0.54805	T	0.06	1.1401	8.9325	0.35680	0.1226:0.128:0.7494:0.0	.	201;201	F8WDR2;Q9BVS5	.;TR61B_HUMAN	M	201	ENSP00000302801:L201M	ENSP00000302801:L201M	L	-	1	2	TRMT61B	28946047	0.000000	0.05858	0.004000	0.12327	0.905000	0.53344	0.067000	0.14510	1.259000	0.44117	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	1	0	1	133	747	0	140	1	9.998035e-01	17	53	0	140	2		0	0	0	0	0	2	1	1	131	740	0	140	2								-6.564617	1	1	121412	50	52	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRMT61B	55006	broad.mit.edu	37	2	29092664	29092664	+	Missense_Mutation	SNP	C	C	A	rs140115429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092664C>A	ENST00000306108.5	-	1	503	c.480G>T	c.(478-480)gaG>gaT	p.E160D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)			13					CCTCCCCAGTCTCAGCTAAAA	0.498000																								0							SO:0001583	missense			ENST00000306108.5	1	1	hg19	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230419	0.58777	0.0	2.33E-4	ENSG00000171103	ENST00000306108	T	0.22134	1.97	5.24	4.35	0.52113	.	0.318671	0.27764	N	0.017947	T	0.16811	0.0404	N	0.10707	0.03	0.35303	D	0.783195	B;P	0.48589	0.002;0.912	B;P	0.49708	0.008;0.62	T	0.21109	-1.0255	10	0.37606	T	0.19	.	14.0724	0.64868	0.0:0.9259:0.0:0.0741	.	160;160	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	160	ENSP00000302801:E160D	ENSP00000302801:E160D	E	-	3	2	TRMT61B	28946168	0.335000	0.24748	0.063000	0.19743	0.290000	0.27261	1.435000	0.34969	2.459000	0.83118	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	1	0	1	53	246	0	63	1	9.999823e-01	19	59	0	63	2		0	0	0	0	0	2	1	1	53	244	0	62	2								-20.000000	1	1	121412	5	37	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRMT61B	55006	broad.mit.edu	37	2	29093040	29093040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29093040G>T	ENST00000306108.5	-	1	127	c.104C>A	c.(103-105)gCt>gAt	p.A35D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)			13					CAGTGACCGAGCTCCCTCGAA	0.622000																								0							SO:0001583	missense			ENST00000306108.5	1	1	hg19	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433373	0.62844	.	.	ENSG00000171103	ENST00000306108	T	0.55234	0.53	5.44	1.62	0.23740	.	0.418594	0.21374	N	0.075591	T	0.46521	0.1397	L	0.29908	0.895	0.09310	N	1	D;P	0.53462	0.96;0.933	P;P	0.53649	0.731;0.542	T	0.34153	-0.9840	10	0.72032	D	0.01	-5.5275	5.127	0.14890	0.2511:0.1498:0.599:0.0	.	35;35	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	35	ENSP00000302801:A35D	ENSP00000302801:A35D	A	-	2	0	TRMT61B	28946544	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	1.109000	0.31135	0.090000	0.17273	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	1	0	1	66	183	0	33	1	9.998818e-01	14	27	0	33	2		0	0	0	0	0	2	1	1	66	177	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR43	23160	broad.mit.edu	37	2	29135533	29135533	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29135533G>A	ENST00000407426.3	+	4	619	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	SNORD92_ENST00000585078.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43			20	Acute lymphoblastic leukemia(172;0.155)				TCAGCTGGTCGAACAATCAAA	0.378000																								0							SO:0001583	missense			ENST00000407426.3	1	1	hg19	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784285	0.90282	.	.	ENSG00000163811	ENST00000407426;ENST00000440983;ENST00000296126	T;T;T	0.70869	-0.01;-0.01;-0.52	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.256459	0.37348	N	0.002124	T	0.72914	0.3520	L	0.43923	1.385	0.43559	D	0.995872	D	0.60160	0.987	P	0.49597	0.616	T	0.71784	-0.4488	10	0.41790	T	0.15	-7.3855	20.0896	0.97814	0.0:0.0:1.0:0.0	.	188	Q15061	WDR43_HUMAN	Q	188;99;7	ENSP00000384302:R188Q;ENSP00000415355:R99Q;ENSP00000296126:R7Q	ENSP00000296126:R7Q	R	+	2	0	WDR43	28989037	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.796000	0.69080	2.741000	0.93983	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	1	0	1	93	264	0	76	1	1	48	106	0	76	2		0	0	0	0	0	2	1	1	91	260	0	76	2								-5.571499	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR43	23160	broad.mit.edu	37	2	29152515	29152515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29152515C>T	ENST00000407426.3	+	11	1432	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA|Y_RNA_ENST00000410292.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	p.T502M(1)		20	Acute lymphoblastic leukemia(172;0.155)				GACCTCCAGACGAATAGCTTT	0.353000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000407426.3	1	1	hg19	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525409	0.44969	.	.	ENSG00000163811	ENST00000407426	T	0.75704	-0.96	5.81	4.94	0.65067	.	0.146333	0.64402	N	0.000009	T	0.67353	0.2884	M	0.65975	2.015	0.50467	D	0.999879	P	0.37525	0.598	B	0.21917	0.037	T	0.71076	-0.4697	10	0.66056	D	0.02	-8.4749	12.1851	0.54234	0.0:0.8621:0.0:0.1378	.	459	Q15061	WDR43_HUMAN	M	459	ENSP00000384302:T459M	ENSP00000384302:T459M	T	+	2	0	WDR43	29006019	0.992000	0.36948	0.890000	0.34922	0.890000	0.51754	3.080000	0.50112	1.459000	0.47892	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	1	0	1	55	141	0	33	1	1	111	140	0	33	2		0	0	0	0	0	2	1	1	55	138	0	32	2								-20.000000	1	1	120796	2	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM179A	165186	broad.mit.edu	37	2	29258407	29258407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29258407G>A	ENST00000379558.4	+	17	2654	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A			26					GAGCAGCTACGGGAGCTGACA	0.662000																								0							SO:0001583	missense			ENST00000379558.4	0	1	hg19	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138539	0.56936	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.13901	2.55;2.55	4.74	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.231983	0.29307	N	0.012538	T	0.23210	0.0561	L	0.60455	1.87	0.29437	N	0.859426	D;D;D	0.71674	0.991;0.998;0.998	P;P;P	0.59115	0.69;0.75;0.852	T	0.02805	-1.1108	10	0.45353	T	0.12	.	6.4891	0.22105	0.2624:0.0:0.7376:0.0	.	713;768;66	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	Q	768;713	ENSP00000368876:R768Q;ENSP00000384699:R713Q	ENSP00000368876:R768Q	R	+	2	0	FAM179A	29111911	1.000000	0.71417	0.995000	0.50966	0.142000	0.21351	3.093000	0.50217	2.196000	0.70406	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	1	0	1	13	35	0	9	1	7.912533e-01	5	5	0	9	2		0	0	0	0	0	2	1	9.997453e-01	12	35	0	8	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
FAM179A	165186	broad.mit.edu	37	2	29259479	29259479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29259479G>A	ENST00000379558.4	+	18	2842	c.2491G>A	c.(2491-2493)Gcc>Acc	p.A831T	FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A			26					GGAGTCCTTCGCCAAGATGAT	0.498000																								0							SO:0001583	missense			ENST00000379558.4	1	1	hg19	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	g	6.373	0.436969	0.12104	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14144	2.53;2.53	6.04	1.22	0.21188	Armadillo-like helical (1);Armadillo-type fold (1);	0.266535	0.32802	N	0.005625	T	0.08044	0.0201	L	0.50333	1.59	0.09310	N	1	B;B;P	0.36249	0.179;0.034;0.545	B;B;B	0.22386	0.024;0.003;0.039	T	0.34403	-0.9830	10	0.13853	T	0.58	.	6.7617	0.23544	0.1701:0.0:0.6081:0.2218	.	776;831;129	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	T	831;776	ENSP00000368876:A831T;ENSP00000384699:A776T	ENSP00000368876:A831T	A	+	1	0	FAM179A	29112983	0.000000	0.05858	0.439000	0.26833	0.203000	0.24098	0.488000	0.22371	0.461000	0.27071	-0.217000	0.12591	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	1	0	1	90	231	1	74	1	9.482496e-01	3	12	1	74	2		0	0	0	0	0	2	1	1	89	227	1	74	15								-6.766390	1	1	121408	11	41	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2orf71	388939	broad.mit.edu	37	2	29293566	29293566	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29293566G>T	ENST00000331664.5	-	1	3561	c.3562C>A	c.(3562-3564)Cct>Act	p.P1188T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71			60					CTGAGGAAAGGCAGAGGGTTG	0.632000																								0							SO:0001583	missense			ENST00000331664.5	1	1	hg19	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631712	0.87660	.	.	ENSG00000179270	ENST00000331664	T	0.36340	1.26	5.52	5.52	0.82312	.	0.071002	0.56097	D	0.000028	T	0.61502	0.2352	M	0.65498	2.005	0.46609	D	0.999124	D	0.89917	1.0	D	0.91635	0.999	T	0.63598	-0.6601	10	0.87932	D	0	-12.6592	19.4741	0.94979	0.0:0.0:1.0:0.0	.	1188	A6NGG8	CB071_HUMAN	T	1188	ENSP00000332809:P1188T	ENSP00000332809:P1188T	P	-	1	0	C2orf71	29147070	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.587000	0.82613	2.595000	0.87683	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	1	0	1	58	308	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	56	300	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP4	79745	broad.mit.edu	37	2	29356571	29356571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29356571G>A	ENST00000320081.5	+	5	673	c.418G>A	c.(418-420)Gca>Aca	p.A140T	CLIP4_ENST00000404424.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4			26	Acute lymphoblastic leukemia(172;0.155)				TGACCTGGGAGCAGACATTAG	0.358000																								0							SO:0001583	missense			ENST00000320081.5	1	1	hg19	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454407	0.84209	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000438819;ENST00000530644	T;T;T;T;T;T	0.70869	0.07;-0.52;0.07;0.07;0.07;0.07	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.051964	0.85682	D	0.000000	T	0.80549	0.4644	M	0.76328	2.33	0.80722	D	1	P;P	0.50528	0.936;0.84	P;P	0.51945	0.685;0.596	T	0.82924	-0.0216	10	0.87932	D	0	.	19.5055	0.95113	0.0:0.0:1.0:0.0	.	140;140	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	T	140;33;140;140;140;141;140;33;122	ENSP00000384242:A140T;ENSP00000385148:A33T;ENSP00000385594:A140T;ENSP00000327009:A140T;ENSP00000393354:A140T;ENSP00000392296:A33T	ENSP00000327009:A140T	A	+	1	0	CLIP4	29210075	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	9.799000	0.99117	2.604000	0.88044	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	0	0	0	9	269	0	31	1	8.240813e-01	5	93	0	31	2		0	0	0	0	0	2	1	9.939450e-01	9	264	0	31	2								-10.051150	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.430000	0.210000	0.730000	0.420000	0.450498	0.430000	0	3.000000e-01	5.800000e-01
CLIP4	79745	broad.mit.edu	37	2	29397296	29397296	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29397296G>T	ENST00000320081.5	+	15	2036	c.1781G>T	c.(1780-1782)aGa>aTa	p.R594I	CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4			26	Acute lymphoblastic leukemia(172;0.155)				ATTAACAGAAGAAATGCTTTT	0.348000																								0							SO:0001583	missense			ENST00000320081.5	1	1	hg19	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524429	0.85600	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.07	6.07	0.98685	Cytoskeleton-associated protein, Gly-rich domain (1);	0.095372	0.64402	D	0.000001	T	0.46698	0.1406	L	0.27053	0.805	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.36335	-0.9752	10	0.38643	T	0.18	.	17.8153	0.88630	0.0:0.0:1.0:0.0	.	594	Q8N3C7	CLIP4_HUMAN	I	594;487;594;596;594;612;554	ENSP00000384242:R594I;ENSP00000385148:R487I;ENSP00000385594:R594I;ENSP00000327009:R594I	ENSP00000327009:R594I	R	+	2	0	CLIP4	29250800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.806000	0.55583	2.885000	0.99019	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	1	0	0	35	256	0	57	1	9.998832e-01	7	96	0	57	2		0	0	0	0	0	2	1	1	34	251	0	57	2								-15.219440	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999670	0.990000	1	9.900000e-01	1
ALK	238	broad.mit.edu	37	2	30142927	30142927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30142927C>T	ENST00000389048.3	-	1	1505	c.599G>A	c.(598-600)aGa>aAa	p.R200K	ALK_ENST00000431873.1_Missense_Mutation_p.R200K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	340	Acute lymphoblastic leukemia(172;0.155)			Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCTTCCCTCTCTGCCCACTTC	0.622000			T, Mis, A	NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22	ALCL, NSCLC, Neuroblastoma	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		L, E, M	0							SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	ENST00000389048.3	1	1	hg19	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805230	0.70682	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.79454	-1.27;2.77	5.33	5.33	0.75918	.	.	.	.	.	T	0.67571	0.2907	N	0.24115	0.695	0.28441	N	0.916784	B	0.19583	0.037	B	0.14023	0.01	T	0.53865	-0.8378	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	200	Q9UM73	ALK_HUMAN	K	200	ENSP00000373700:R200K;ENSP00000414027:R200K	.	R	-	2	0	ALK	29996431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.041000	0.49807	2.652000	0.90054	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	1	0	1	90	221	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	1	89	216	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LBH	81606	broad.mit.edu	37	2	30480460	30480460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30480460G>T	ENST00000395323.3	+	3	499	c.291G>T	c.(289-291)gaG>gaT	p.E97D	LBH_ENST00000404397.1_Intron|LBH_ENST00000401506.1_Missense_Mutation_p.E103D|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.E80D|LBH_ENST00000406087.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development			5	Acute lymphoblastic leukemia(172;0.155)				ACTGCGAAGAGACAGCGAAAG	0.547000																								0							SO:0001583	missense			ENST00000395323.3	1	1	hg19	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233031	0.39498	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.78	-1.56	0.08532	.	0.611981	0.18007	N	0.154682	T	0.20740	0.0499	N	0.19112	0.55	0.28153	N	0.929308	B	0.02656	0.0	B	0.04013	0.001	T	0.06935	-1.0799	9	0.42905	T	0.14	-9.1529	3.5822	0.07958	0.2088:0.4269:0.2568:0.1075	.	97	Q53QV2	LBH_HUMAN	D	97;103;80	.	ENSP00000378733:E97D	E	+	3	2	LBH	30333964	0.726000	0.28059	0.909000	0.35828	0.947000	0.59692	-0.144000	0.10280	-0.194000	0.10399	0.549000	0.68633	GAG		TCGA-IB-7651-01A-11D-2154-08	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	1	0	0	36	219	0	46	1	1	27	647	0	46	2		0	0	0	0	0	2	1	1	36	213	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
LCLAT1	253558	broad.mit.edu	37	2	30756073	30756073	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30756073G>A	ENST00000309052.4	+	4	580	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1			19					ATGAACCATCGGACAAGAATG	0.413000																								0							SO:0001583	missense			ENST00000309052.4	1	1	hg19	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938400	0.73557	.	.	ENSG00000172954	ENST00000466477;ENST00000465200;ENST00000379509;ENST00000444270;ENST00000319406;ENST00000488144;ENST00000465538;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038;ENST00000497423;ENST00000476535	D;D;D;D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.41	3.61	0.41365	Phospholipid/glycerol acyltransferase (2);	0.101779	0.64402	D	0.000001	D	0.92397	0.7587	L	0.38649	1.16	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.91635	0.965;0.999	D	0.88787	0.3275	10	0.19590	T	0.45	-12.3911	11.7451	0.51815	0.1428:0.0:0.8572:0.0	.	124;124	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	Q	86;86;86;86;124;86;86;124;124;86;86;124;86	ENSP00000419966:R86Q;ENSP00000420481:R86Q;ENSP00000368823:R86Q;ENSP00000368826:R124Q;ENSP00000417951:R86Q;ENSP00000417565:R86Q;ENSP00000310551:R124Q;ENSP00000352406:R124Q;ENSP00000442857:R86Q;ENSP00000419646:R86Q;ENSP00000417875:R124Q;ENSP00000419444:R86Q	ENSP00000310551:R124Q	R	+	2	0	LCLAT1	30609577	1.000000	0.71417	0.995000	0.50966	0.287000	0.27160	9.554000	0.98121	0.771000	0.33359	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	1	0	1	192	844	0	182	1	9.792491e-01	12	17	0	182	2		0	0	0	0	0	2	1	1	188	827	0	182	2								-2.515512	1	1	121412	2	39	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPN13	92291	broad.mit.edu	37	2	31010077	31010077	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31010077T>G	ENST00000295055.8	-	2	291	c.115A>C	c.(115-117)Aca>Cca	p.T39P	CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13			30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)				GCAGGGAATGTCTCATCCTTA	0.542000																								0							SO:0001583	missense			ENST00000295055.8	1	1	hg19	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203808	0.38905	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87650	-2.28;-2.28	5.91	3.46	0.39613	Peptidase C2, calpain, catalytic domain (3);	0.296884	0.36815	N	0.002391	D	0.90549	0.7038	M	0.81239	2.535	0.33205	D	0.552634	D	0.69078	0.997	D	0.67548	0.952	D	0.89689	0.3896	10	0.33940	T	0.23	.	4.8091	0.13335	0.1652:0.0869:0.0:0.7479	.	39	Q6MZZ7	CAN13_HUMAN	P	39	ENSP00000295055:T39P;ENSP00000431298:T39P	ENSP00000295055:T39P	T	-	1	0	CAPN13	30863581	0.609000	0.26975	0.990000	0.47175	0.135000	0.20990	1.198000	0.32223	2.266000	0.75297	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	1	0	1	16	58	0	13	0	5.228982e-02	0	2	0	13	2		0	0	0	0	0	2	1	9.999588e-01	16	56	0	12	2								-13.457370	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
EHD3	30845	broad.mit.edu	37	2	31457609	31457609	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31457609G>A	ENST00000322054.5	+	1	407	c.122G>A	c.(121-123)cGc>cAc	p.R41H	EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	p.R41L(1)		33	Acute lymphoblastic leukemia(172;0.155)				GAGCATTACCGCTTCCACGAG	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000322054.5	1	1	hg19	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563703	0.65651	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	T;T	0.32753	1.44;2.18	5.0	5.0	0.66597	.	0.047335	0.85682	D	0.000000	T	0.30355	0.0762	M	0.71036	2.16	0.42300	D	0.992178	B;B	0.11235	0.004;0.002	B;B	0.08055	0.001;0.003	T	0.33317	-0.9873	10	0.66056	D	0.02	-24.0634	5.9496	0.19237	0.2233:0.0:0.7767:0.0	.	41;41	B4DFR5;Q9NZN3	.;EHD3_HUMAN	H	41	ENSP00000440685:R41H;ENSP00000327116:R41H	ENSP00000327116:R41H	R	+	2	0	EHD3	31311113	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.609000	0.67661	2.600000	0.87896	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1	149	426	0	105	1	9.997169e-01	2	35	0	105	2		0	0	0	0	0	2	1	1	149	422	0	104	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHD3	30845	broad.mit.edu	37	2	31467303	31467303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31467303G>A	ENST00000322054.5	+	2	676	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3			33	Acute lymphoblastic leukemia(172;0.155)				CTTTGGCAACGCCTTCTTGAA	0.537000																								0							SO:0001583	missense			ENST00000322054.5	1	1	hg19	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989006	0.74589	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	D;D	0.95588	-3.75;-3.75	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	L	0.44542	1.39	0.80722	D	1	B;B	0.29835	0.207;0.258	B;B	0.32393	0.074;0.145	D	0.91218	0.5004	10	0.38643	T	0.18	-18.8688	19.8471	0.96713	0.0:0.0:1.0:0.0	.	131;131	B4DFR5;Q9NZN3	.;EHD3_HUMAN	T	131	ENSP00000440685:A131T;ENSP00000327116:A131T	ENSP00000327116:A131T	A	+	1	0	EHD3	31320807	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.688000	0.91661	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1	72	187	0	47	1	9.999833e-01	4	42	0	47	2		0	0	0	0	0	2	1	1	69	184	0	47	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHD3	30845	broad.mit.edu	37	2	31483495	31483495	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483495A>C	ENST00000322054.5	+	4	907	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3			33	Acute lymphoblastic leukemia(172;0.155)				CAAAGCCCTCAAGAACCACGA	0.552000																								0							SO:0001583	missense			ENST00000322054.5	1	1	hg19	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988500	0.74589	.	.	ENSG00000013016	ENST00000322054	D	0.97016	-4.21	5.15	3.98	0.46160	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	M	0.62209	1.925	0.80722	D	1	P	0.48764	0.915	P	0.55161	0.77	D	0.95728	0.8772	10	0.59425	D	0.04	-38.4058	11.4487	0.50138	0.865:0.0:0.0:0.135	.	208	Q9NZN3	EHD3_HUMAN	Q	208	ENSP00000327116:K208Q	ENSP00000327116:K208Q	K	+	1	0	EHD3	31336999	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.179000	0.77665	0.957000	0.37930	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1	74	202	0	43	0	9.999418e-01	0	43	0	43	2		0	0	0	0	0	2	1	1	74	199	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHD3	30845	broad.mit.edu	37	2	31483688	31483688	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483688A>C	ENST00000322054.5	+	4	1100	c.815A>C	c.(814-816)gAg>gCg	p.E272A	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3			33	Acute lymphoblastic leukemia(172;0.155)				AAGCTCTTTGAGGCTGAGGAA	0.587000																								0							SO:0001583	missense			ENST00000322054.5	1	1	hg19	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728124	0.69074	.	.	ENSG00000013016	ENST00000322054	D	0.95885	-3.84	4.97	4.97	0.65823	.	0.094049	0.64402	D	0.000001	D	0.97145	0.9067	M	0.83223	2.63	0.80722	D	1	D	0.57899	0.981	P	0.58454	0.839	D	0.97595	1.0119	10	0.62326	D	0.03	-46.8045	14.8417	0.70230	1.0:0.0:0.0:0.0	.	272	Q9NZN3	EHD3_HUMAN	A	272	ENSP00000327116:E272A	ENSP00000327116:E272A	E	+	2	0	EHD3	31337192	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.139000	0.94554	2.090000	0.63153	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	0	44	569	0	121	0	9.037284e-01	1	53	0	121	2		0	0	0	0	0	2	1	1	43	567	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.910000	0.670000	1.000000	1.000000	0.902867	0.910000	1	7.900000e-01	1
EHD3	30845	broad.mit.edu	37	2	31484505	31484505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31484505G>A	ENST00000322054.5	+	5	1291	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3			33	Acute lymphoblastic leukemia(172;0.155)				CAACAACCTGGCCGAGATCTA	0.562000																								0							SO:0001583	missense			ENST00000322054.5	1	1	hg19	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784436	0.31593	.	.	ENSG00000013016	ENST00000322054	T	0.17213	2.29	6.04	6.04	0.98038	.	0.090843	0.85682	D	0.000000	T	0.09423	0.0232	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.22109	T	0.4	-6.2235	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	336	Q9NZN3	EHD3_HUMAN	T	336	ENSP00000327116:A336T	ENSP00000327116:A336T	A	+	1	0	EHD3	31338009	1.000000	0.71417	0.973000	0.42090	0.105000	0.19272	6.685000	0.74543	2.873000	0.98535	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	1	149	482	0	148	1	9.822670e-01	3	20	0	148	2		0	0	0	0	0	2	1	1	149	472	0	146	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHD3	30845	broad.mit.edu	37	2	31489251	31489251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31489251C>T	ENST00000322054.5	+	6	1574	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3			33	Acute lymphoblastic leukemia(172;0.155)				GGGGAGGGGGCTGGAGAAGGT	0.622000																								0							SO:0001583	missense			ENST00000322054.5	1	1	hg19	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140960	0.56936	.	.	ENSG00000013016	ENST00000322054	T	0.17691	2.26	5.84	5.84	0.93424	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.39020	1.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09907	-1.0653	10	0.15952	T	0.53	-19.4475	20.1432	0.98067	0.0:1.0:0.0:0.0	.	430	Q9NZN3	EHD3_HUMAN	V	430	ENSP00000327116:A430V	ENSP00000327116:A430V	A	+	2	0	EHD3	31342755	1.000000	0.71417	0.971000	0.41717	0.918000	0.54935	5.940000	0.70187	2.769000	0.95229	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	1	0	0	19	189	0	30	0	7.415646e-01	0	28	0	30	2		0	0	0	0	0	2	1	9.999901e-01	18	183	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.740000	1.000000	1.000000	0.972127	0.990000	1	9.300000e-01	1
XDH	7498	broad.mit.edu	37	2	31560588	31560588	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31560588G>A	ENST00000379416.3	-	35	3918	c.3870C>T	c.(3868-3870)aaC>aaT	p.N1290N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase			74	Acute lymphoblastic leukemia(172;0.155)			Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTTCCTTCACGTTATTACCTG	0.562000													Colon(66;682 1445 30109 40147)											0							SO:0001819	synonymous_variant			ENST00000379416.3	1	1	hg19	CCDS1775.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	0	110	351	0	83	1	6.036258e-01	3	5	0	83	2		0	0	0	0	0	2	1	1	106	349	0	83	2								-20.000000	1	1	121412	1	39	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XDH	7498	broad.mit.edu	37	2	31570487	31570487	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31570487G>A	ENST00000379416.3	-	29	3225	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase			74	Acute lymphoblastic leukemia(172;0.155)			Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AAATCTTAGAGGTGGGGATTT	0.542000													Colon(66;682 1445 30109 40147)											0							SO:0001819	synonymous_variant			ENST00000379416.3	1	1	hg19	CCDS1775.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1	124	379	0	94	1	3.609578e-01	3	2	0	94	2		0	0	0	0	0	2	1	1	124	372	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XDH	7498	broad.mit.edu	37	2	31571782	31571782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31571782C>T	ENST00000379416.3	-	27	3082	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase			74	Acute lymphoblastic leukemia(172;0.155)			Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AGAAAAGGAACTGTAAAGCTT	0.388000													Colon(66;682 1445 30109 40147)											0							SO:0001583	missense			ENST00000379416.3	1	1	hg19	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	8.416	0.845221	0.16963	.	.	ENSG00000158125	ENST00000379416	T	0.43294	0.95	5.85	-11.0	0.00169	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.594745	0.19170	N	0.120946	T	0.25865	0.0630	L	0.47016	1.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11494	-1.0585	10	0.16896	T	0.51	.	14.4795	0.67570	0.0:0.2955:0.5407:0.1638	.	1012	P47989	XDH_HUMAN	I	1012	ENSP00000368727:V1012I	ENSP00000368727:V1012I	V	-	1	0	XDH	31425286	0.000000	0.05858	0.000000	0.03702	0.847000	0.48162	-4.438000	0.00234	-2.268000	0.00685	-3.099000	0.00064	GTT		TCGA-IB-7651-01A-11D-2154-08	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1	53	161	0	42	1	6.286770e-01	4	4	0	42	2		0	0	0	0	0	2	1	1	53	158	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31573079C>T	ENST00000379416.3	-	25	2690	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	p.R881Q(1)		74	Acute lymphoblastic leukemia(172;0.155)			Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAATAAAGCTCGTTCCATAAT	0.498000													Colon(66;682 1445 30109 40147)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000379416.3	1	1	hg19	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167243	0.38315	.	.	ENSG00000158125	ENST00000379416	T	0.38887	1.11	5.85	4.98	0.66077	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.75150	2.29	0.80722	D	1	P	0.36315	0.547	B	0.33690	0.168	T	0.46911	-0.9157	10	0.46703	T	0.11	.	14.6649	0.68901	0.0:0.9297:0.0:0.0703	.	881	P47989	XDH_HUMAN	Q	881	ENSP00000368727:R881Q	ENSP00000368727:R881Q	R	-	2	0	XDH	31426583	0.996000	0.38824	0.837000	0.33122	0.024000	0.10985	3.984000	0.56923	1.485000	0.48380	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1	97	444	0	64	1	4.373433e-01	4	4	0	64	2		0	0	0	0	0	2	1	1	94	434	0	64	2								-2.897201	1	1	121412	4	35	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XDH	7498	broad.mit.edu	37	2	31588402	31588402	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31588402C>T	ENST00000379416.3	-	23	2513	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase			74	Acute lymphoblastic leukemia(172;0.155)			Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TCGCACAGGGCGGCCGGTCCT	0.557000													Colon(66;682 1445 30109 40147)											0							SO:0001583	missense			ENST00000379416.3	1	1	hg19	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910494	0.33721	.	.	ENSG00000158125	ENST00000379416	T	0.57436	0.4	6.17	5.25	0.73442	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.206565	0.50627	N	0.000113	T	0.60143	0.2246	M	0.86343	2.81	0.58432	D	0.999997	B	0.22800	0.075	B	0.23852	0.049	T	0.60193	-0.7311	10	0.39692	T	0.17	.	14.7869	0.69810	0.0:0.9275:0.0:0.0725	.	822	P47989	XDH_HUMAN	H	822	ENSP00000368727:R822H	ENSP00000368727:R822H	R	-	2	0	XDH	31441906	0.103000	0.21917	0.817000	0.32601	0.180000	0.23129	1.648000	0.37271	1.515000	0.48885	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1	106	483	0	105	1	1.529791e-01	2	2	0	105	2		0	0	0	0	0	2	1	1	103	474	0	101	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XDH	7498	broad.mit.edu	37	2	31593326	31593326	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31593326T>G	ENST00000379416.3	-	18	1923	c.1875A>C	c.(1873-1875)gaA>gaC	p.E625D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase			74	Acute lymphoblastic leukemia(172;0.155)			Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTTCTTAGCTTCTGATGTAT	0.478000													Colon(66;682 1445 30109 40147)											0							SO:0001583	missense			ENST00000379416.3	1	1	hg19	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102553	0.37145	.	.	ENSG00000158125	ENST00000379416	T	0.13089	2.62	6.17	2.51	0.30379	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.430804	0.29253	N	0.012683	T	0.21022	0.0506	M	0.66939	2.045	0.44985	D	0.998004	B	0.24317	0.101	B	0.39152	0.292	T	0.02877	-1.1099	10	0.54805	T	0.06	.	9.2083	0.37302	0.0:0.2166:0.0:0.7834	.	625	P47989	XDH_HUMAN	D	625	ENSP00000368727:E625D	ENSP00000368727:E625D	E	-	3	2	XDH	31446830	1.000000	0.71417	0.995000	0.50966	0.355000	0.29361	0.639000	0.24690	0.197000	0.20387	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	1	37	143	0	22	1	8.414246e-01	7	8	0	22	2		0	0	0	0	0	2	1	1	37	141	0	22	2								-19.999930	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XDH	7498	broad.mit.edu	37	2	31624144	31624144	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31624144A>G	ENST00000379416.3	-	4	296	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase			74	Acute lymphoblastic leukemia(172;0.155)			Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGTCACTGCAACATGGTGCAA	0.507000													Colon(66;682 1445 30109 40147)											0							SO:0001583	missense			ENST00000379416.3	1	1	hg19	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.256555	0.00265	.	.	ENSG00000158125	ENST00000379416	T	0.21031	2.03	6.07	2.41	0.29592	Xanthine dehydrogenase, small subunit (1);Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.716909	0.14120	N	0.340128	T	0.03263	0.0095	N	0.00094	-2.165	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.40459	-0.9562	10	0.02654	T	1	.	8.6268	0.33895	0.7144:0.0:0.2856:0.0	.	83	P47989	XDH_HUMAN	A	83	ENSP00000368727:V83A	ENSP00000368727:V83A	V	-	2	0	XDH	31477648	0.096000	0.21769	0.003000	0.11579	0.002000	0.02628	2.968000	0.49224	0.179000	0.19938	-0.256000	0.11100	GTT		TCGA-IB-7651-01A-11D-2154-08	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	1	0	0	16	264	0	50	0	2.100763e-02	0	4	0	50	2		0	0	0	0	0	2	1	9.999266e-01	16	257	0	50	2								-18.729740	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.740000	0.440000	1.000000	1.000000	0.750422	0.740000	0	5.700000e-01	9.300000e-01
SRD5A2	6716	broad.mit.edu	37	2	31805971	31805971	+	RNA	SNP	G	G	A	rs61748132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31805971G>A	ENST00000405650.1	-	0	165							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)				Acute lymphoblastic leukemia(172;0.155)			Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AACCTGCATCGCGCCGTGTTC	0.701000																								0											ENST00000405650.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	0	0	0	52	150	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	51	148	0	31	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRD5A2	6716	broad.mit.edu	37	2	31806019	31806019	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31806019G>A	ENST00000405650.1	-	0	117							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)				Acute lymphoblastic leukemia(172;0.155)			Azelaic Acid(DB00548)|Dutasteride(DB01126)|Finasteride(DB01216)|Spironolactone(DB00421)	AGAGAGCGCGGCCCCCGCAAC	0.716000																								0											ENST00000405650.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SRD5A2-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000325124.1	0	0	0	28	95	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	1	26	94	0	12	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSSC1	7260	broad.mit.edu	37	2	3196197	3196197	+	Missense_Mutation	SNP	C	C	T	rs143356052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3196197C>T	ENST00000382125.4	-	8	1169	c.977G>A	c.(976-978)cGt>cAt	p.R326H	TSSC1_ENST00000398659.4_Missense_Mutation_p.R353H|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1			18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)			CTCTTCAGAACGGTGGTCCTC	0.562000													Colon(140;1261 1762 4183 34270 49743)											0							SO:0001583	missense			ENST00000382125.4	1	1	hg19	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439519	0.04636	4.54E-4	8.14E-4	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	D;D;T	0.83673	-1.69;-1.75;-1.22	5.55	0.785	0.18584	WD40/YVTN repeat-like-containing domain (1);	0.480333	0.26773	N	0.022580	T	0.49813	0.1579	N	0.00926	-1.1	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.39692	T	0.17	-0.7685	1.0524	0.01582	0.165:0.3348:0.1688:0.3314	.	326	Q53HC9	TSSC1_HUMAN	H	326;353;175	ENSP00000371559:R326H;ENSP00000381652:R353H;ENSP00000393350:R175H	ENSP00000371559:R326H	R	-	2	0	TSSC1	3175204	0.737000	0.28175	0.020000	0.16555	0.346000	0.29079	1.064000	0.30579	-0.083000	0.12618	-0.471000	0.05019	CGT		TCGA-IB-7651-01A-11D-2154-08	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	0	0	1	34	150	0	40	1	1	48	129	0	40	2		0	0	0	0	0	2	1	1	32	148	0	40	2								-3.363227	1	1	121406	82	49	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRC4	58484	broad.mit.edu	37	2	32475213	32475213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32475213C>A	ENST00000404025.2	-	5	2208	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4			16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)				GCTTCAAATTCTTGGCTCAGG	0.378000																								0							SO:0001587	stop_gained			ENST00000404025.2	0	1	hg19	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081780	0.76528	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.0	2.11	0.27256	.	0.396359	0.19831	N	0.105084	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.6055	0.39630	0.0:0.8875:0.0:0.1125	.	.	.	.	X	574	.	ENSP00000354159:E574X	E	-	1	0	NLRC4	32328717	1.000000	0.71417	0.575000	0.28536	0.001000	0.01503	4.069000	0.57541	0.853000	0.35312	-0.300000	0.09419	GAA		TCGA-IB-7651-01A-11D-2154-08	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	1	0	1	69	418	0	96	0	5.270375e-01	0	12	0	96	2		0	0	0	0	0	2	1	1	67	414	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLRC4	58484	broad.mit.edu	37	2	32476155	32476155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476155C>A	ENST00000404025.2	-	5	1266	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4			16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)				GCTTCGATTTCTGGGCAGTTC	0.507000																								0							SO:0001587	stop_gained			ENST00000404025.2	0	1	hg19	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	37	6.210687	0.97380	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.27	3.27	0.37495	.	0.000000	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.4282	13.7957	0.63168	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000354159:E260X	E	-	1	0	NLRC4	32329659	1.000000	0.71417	0.937000	0.37676	0.911000	0.54048	2.663000	0.46774	1.836000	0.53414	0.543000	0.68304	GAA		TCGA-IB-7651-01A-11D-2154-08	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	1	0	0	51	630	0	122	0	3.173351e-01	0	15	0	122	2		0	0	0	0	0	2	1	1	51	618	0	121	2								-11.585270	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.950000	0.720000	1.000000	1.000000	0.929914	0.950000	1	8.300000e-01	1
NLRC4	58484	broad.mit.edu	37	2	32476650	32476650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476650C>T	ENST00000404025.2	-	5	771	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K|NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4			16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)				AAGTCTCCTTCTGATGTCTGA	0.408000																								0							SO:0001583	missense			ENST00000404025.2	1	1	hg19	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564640	0.45694	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.55052	0.54;0.54;0.54	3.46	2.56	0.30785	.	0.119241	0.33572	N	0.004778	T	0.35624	0.0938	L	0.29908	0.895	0.32029	N	0.599757	P	0.40000	0.698	B	0.32724	0.151	T	0.53337	-0.8453	9	0.66056	D	0.02	-5.2439	11.191	0.48685	0.1858:0.8142:0.0:0.0	.	95	Q9NPP4	NLRC4_HUMAN	K	95	ENSP00000354159:E95K;ENSP00000385428:E95K;ENSP00000385090:E95K	ENSP00000354159:E95K	E	-	1	0	NLRC4	32330154	0.070000	0.21116	0.080000	0.20451	0.123000	0.20343	0.143000	0.16115	0.772000	0.33382	0.543000	0.68304	GAA		TCGA-IB-7651-01A-11D-2154-08	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	0	0	0	20	488	0	100	0	6.283554e-02	0	10	0	100	2		0	0	0	0	0	2	1	9.999949e-01	20	482	0	99	2								-4.260508	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.500000	0.310000	0.740000	0.510000	0.522235	0.500000	0	4.000000e-01	6.300000e-01
TSSC1	7260	broad.mit.edu	37	2	3261074	3261074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3261074C>A	ENST00000382125.4	-	4	604	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S|TSSC1_ENST00000398659.4_Missense_Mutation_p.A165S|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1			18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)			TCCTACCAGGCCATGTTGCCA	0.557000													Colon(140;1261 1762 4183 34270 49743)											0							SO:0001583	missense			ENST00000382125.4	1	1	hg19	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441202	0.43326	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.12774	2.65;2.65;2.65	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);	0.049431	0.85682	D	0.000000	T	0.10121	0.0248	L	0.28115	0.83	0.80722	D	1	B	0.28258	0.205	B	0.20955	0.032	T	0.09357	-1.0678	10	0.06891	T	0.86	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	138	Q53HC9	TSSC1_HUMAN	S	138;165;138	ENSP00000371559:A138S;ENSP00000381652:A165S;ENSP00000389080:A138S	ENSP00000371559:A138S	A	-	1	0	TSSC1	3240081	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.634000	0.61325	2.626000	0.88956	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	1	0	1	51	208	0	58	1	1	68	67	0	58	2		0	0	0	0	0	2	1	1	50	205	0	58	2								-3.297829	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BIRC6	57448	broad.mit.edu	37	2	32673919	32673919	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673919G>T	ENST00000421745.2	+	22	4675	c.4541G>T	c.(4540-4542)gGc>gTc	p.G1514V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6			172	Acute lymphoblastic leukemia(172;0.155)				GAGATGAGTGGCTCTTCTTGT	0.338000													Pancreas(94;175 1509 16028 18060 45422)											0							SO:0001583	missense			ENST00000421745.2	1	1	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359955	0.61403	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.61	5.61	0.85477	.	0.132026	0.50627	D	0.000106	T	0.78181	0.4243	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70510	-0.4852	10	0.02654	T	1	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	1514	Q9NR09	BIRC6_HUMAN	V	1514	ENSP00000393596:G1514V	ENSP00000393596:G1514V	G	+	2	0	BIRC6	32527423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	GGC		TCGA-IB-7651-01A-11D-2154-08	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	0	18	334	0	62	1	4.418230e-01	2	26	0	62	2		0	0	0	0	0	2	1	9.999808e-01	18	328	0	62	2								-5.091001	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.660000	0.400000	0.980000	1.000000	0.676795	0.660000	0	5.200000e-01	8.200000e-01
BIRC6	57448	broad.mit.edu	37	2	32673997	32673997	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673997G>A	ENST00000421745.2	+	22	4752		c.e22+1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6			172	Acute lymphoblastic leukemia(172;0.155)				GTCCTTTCAGGTAGTGATTTC	0.318000													Pancreas(94;175 1509 16028 18060 45422)											0							SO:0001630	splice_region_variant			ENST00000421745.2	1	1	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145565	0.77888	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2619	0.87072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32527501	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.754000	0.98908	2.574000	0.86865	0.585000	0.79938	.		TCGA-IB-7651-01A-11D-2154-08	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	1	67	189	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	67	186	0	47	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BIRC6	57448	broad.mit.edu	37	2	32702455	32702455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32702455G>A	ENST00000421745.2	+	35	7006	c.6872G>A	c.(6871-6873)cGt>cAt	p.R2291H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6			172	Acute lymphoblastic leukemia(172;0.155)				GATTTAATTCGTTTACGTCGG	0.328000													Pancreas(94;175 1509 16028 18060 45422)											0							SO:0001583	missense			ENST00000421745.2	1	1	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	33	5.261329	0.95368	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.71	5.71	0.89125	.	0.139716	0.48767	D	0.000174	D	0.83533	0.5275	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.83807	0.0239	10	0.62326	D	0.03	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	2291	Q9NR09	BIRC6_HUMAN	H	2291	ENSP00000393596:R2291H	ENSP00000393596:R2291H	R	+	2	0	BIRC6	32555959	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.727000	0.98787	2.694000	0.91930	0.585000	0.79938	CGT		TCGA-IB-7651-01A-11D-2154-08	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	1	116	346	0	71	1	9.999535e-01	6	40	0	71	2		0	0	0	0	0	2	1	1	115	338	0	71	2								-20.000000	1	1	121412	5	39	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BIRC6	57448	broad.mit.edu	37	2	32740700	32740700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32740700G>A	ENST00000421745.2	+	55	11346	c.11212G>A	c.(11212-11214)Gca>Aca	p.A3738T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6			172	Acute lymphoblastic leukemia(172;0.155)				ACAGACCAGTGCAAGATCAGC	0.448000													Pancreas(94;175 1509 16028 18060 45422)											0							SO:0001583	missense			ENST00000421745.2	1	1	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.777582	0.00640	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.5	-1.67	0.08238	.	0.665993	0.14546	N	0.312976	T	0.58708	0.2141	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	10	0.24483	T	0.36	.	6.0668	0.19868	0.4489:0.0:0.4343:0.1168	.	3738	Q9NR09	BIRC6_HUMAN	T	3738	ENSP00000393596:A3738T	ENSP00000393596:A3738T	A	+	1	0	BIRC6	32594204	0.999000	0.42202	0.016000	0.15963	0.164000	0.22412	0.596000	0.24044	-0.365000	0.08076	-0.224000	0.12420	GCA		TCGA-IB-7651-01A-11D-2154-08	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	1	55	351	0	96	1	9.997138e-01	31	48	0	96	2		0	0	0	0	0	2	1	1	54	345	0	96	2								-19.999830	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TTC27	55622	broad.mit.edu	37	2	33036232	33036232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33036232C>T	ENST00000317907.4	+	17	2371	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27			38					AATCTGGAGGCTGTATGCCCA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000317907.4	1	1	hg19	CCDS33176.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	1	0	1	50	231	0	46	1	9.999425e-01	24	46	0	46	2		0	0	0	0	0	2	1	1	50	227	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASGRP3	25780	broad.mit.edu	37	2	33783327	33783327	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783327C>A	ENST00000403687.3	+	16	2369	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	RASGRP3_ENST00000402538.3_Silent_p.A543A|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Silent_p.A542A	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)			11	all_hematologic(175;0.115)				TGGTTCTGGCCTGCAGGAGAT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000403687.3	1	1	hg19	CCDS46256.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	1	0	1	23	89	0	23	1	9.900125e-01	2	30	0	23	2		0	0	0	0	0	2	1	9.999996e-01	23	85	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RASGRP3	25780	broad.mit.edu	37	2	33783829	33783829	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783829G>A	ENST00000403687.3	+	17	2536	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)			11	all_hematologic(175;0.115)				GGCTCTTCTCGCAAGATCTCT	0.592000																								0							SO:0001583	missense			ENST00000403687.3	1	1	hg19	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922374	0.52653	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.78481	-1.18;-1.18;-1.18	5.45	4.57	0.56435	.	0.268189	0.36703	N	0.002459	T	0.60547	0.2277	L	0.27053	0.805	0.32515	N	0.537021	P;P	0.43633	0.813;0.813	B;B	0.32864	0.154;0.154	T	0.69003	-0.5260	10	0.39692	T	0.17	-5.3184	10.9647	0.47406	0.1982:0.0:0.8018:0.0	.	598;599	D6W583;Q8IV61	.;GRP3_HUMAN	H	599;599;598	ENSP00000385886:R599H;ENSP00000384192:R599H;ENSP00000383917:R598H	ENSP00000385886:R599H	R	+	2	0	RASGRP3	33637333	0.988000	0.35896	0.998000	0.56505	0.997000	0.91878	3.486000	0.53215	1.278000	0.44430	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	1	0	0	15	325	0	66	0	5.997884e-01	0	44	0	66	2		0	0	0	0	0	2	1	9.998689e-01	15	321	0	66	2								-4.583258	1	1	120900	1	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.570000	0.330000	0.880000	0.570000	0.591005	0.570000	0	4.400000e-01	7.300000e-01
COLEC11	78989	broad.mit.edu	37	2	3660908	3660908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3660908G>A	ENST00000349077.4	+	3	241	c.138G>A	c.(136-138)gcG>gcA	p.A46A	COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000236693.7_Missense_Mutation_p.R17Q|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000418971.2_Silent_p.A60A|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000403096.3_Silent_p.A20A	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11			22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)				CAGGGGATGCGGGAGAGAAGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000349077.4	1	1	hg19	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930456	0.34096	.	.	ENSG00000118004	ENST00000236693	T	0.05081	3.5	4.62	-4.24	0.03777	.	.	.	.	.	T	0.03178	0.0093	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.43475	-0.9389	8	0.33940	T	0.23	-1.1399	0.8773	0.01227	0.193:0.3053:0.1738:0.3279	.	17	Q9BWP8-9	.	Q	17	ENSP00000236693:R17Q	ENSP00000236693:R17Q	R	+	2	0	COLEC11	3638783	0.714000	0.27936	0.810000	0.32431	0.817000	0.46193	0.010000	0.13242	-0.790000	0.04492	-1.099000	0.02127	CGG		TCGA-IB-7651-01A-11D-2154-08	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	1	0	1	17	78	0	15	0	1	0	174	0	15	2		0	0	0	0	0	2	1	9.999791e-01	17	77	0	15	2								-12.266950	1	1	121268	1	19	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
CRIM1	51232	broad.mit.edu	37	2	36691752	36691752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	p.G315G(1)		45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)			TCTCTCGTGGCGATGGGACAC	0.502000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000280527.2	1	1	hg19	CCDS1783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	1	0	1	153	821	0	152	1	1	44	232	0	152	2		0	0	0	0	0	2	1	1	149	798	0	151	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRIM1	51232	broad.mit.edu	37	2	36704168	36704168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36704168C>T	ENST00000280527.2	+	6	1495	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)			45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)			AGATAAACTGCGAGAGGTACT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000280527.2	1	1	hg19	CCDS1783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	1	0	0	129	348	0	70	1	1	52	166	0	70	2		0	0	0	0	0	2	1	1	127	347	0	69	2								-7.354223	1	1	121412	2	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VIT	5212	broad.mit.edu	37	2	36982186	36982186	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36982186T>G	ENST00000389975.3	+	5	700	c.398T>G	c.(397-399)tTt>tGt	p.F133C	VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000401530.1_Missense_Mutation_p.F133C|VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Missense_Mutation_p.F133C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin			57		all_hematologic(82;0.248)			AGAGAATCCTTTATCGTCTTA	0.443000																								0							SO:0001583	missense			ENST00000389975.3	1	1	hg19	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815856	0.70912	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.63	5.63	0.86233	LCCL (4);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.983;0.971;0.989;0.989;0.999	D	0.97115	0.9807	10	0.87932	D	0	-22.4825	15.5314	0.75964	0.0:0.0:0.0:1.0	.	133;133;133;133;133;133	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	C	133;133;133;133;111;133;133	ENSP00000368544:F133C;ENSP00000374625:F133C;ENSP00000393561:F133C;ENSP00000384154:F111C;ENSP00000368543:F133C;ENSP00000385658:F133C	ENSP00000368543:F133C	F	+	2	0	VIT	36835690	1.000000	0.71417	0.905000	0.35620	0.637000	0.38172	6.394000	0.73223	2.145000	0.66743	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	46	223	0	54	0	3.060560e-02	0	2	0	54	2		0	0	0	0	0	2	1	1	45	217	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VIT	5212	broad.mit.edu	37	2	36994315	36994315	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36994315C>A	ENST00000389975.3	+	7	868	c.566C>A	c.(565-567)gCt>gAt	p.A189D	VIT_ENST00000379241.3_Missense_Mutation_p.A189D|VIT_ENST00000401530.1_Missense_Mutation_p.A189D|VIT_ENST00000404084.1_Missense_Mutation_p.A167D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Missense_Mutation_p.A189D	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin			57		all_hematologic(82;0.248)			CAGCTTCTGGCTGTCACTGTA	0.552000																								0							SO:0001583	missense			ENST00000389975.3	1	1	hg19	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744730	0.30865	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T	0.68765	-0.35;-0.28;-0.25;-0.19;-0.25	5.55	1.8	0.24995	.	0.653797	0.15080	N	0.281690	T	0.44953	0.1318	N	0.22421	0.69	0.09310	N	1	B;B;B;P	0.39782	0.094;0.302;0.201;0.688	B;B;B;B	0.36134	0.037;0.075;0.051;0.218	T	0.22347	-1.0219	10	0.30854	T	0.27	1.337	5.1502	0.15005	0.0:0.4925:0.2127:0.2948	.	189;189;189;189	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	D	189;189;167;189;189	ENSP00000368544:A189D;ENSP00000374625:A189D;ENSP00000384154:A167D;ENSP00000368543:A189D;ENSP00000385658:A189D	ENSP00000368543:A189D	A	+	2	0	VIT	36847819	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.630000	0.24553	0.051000	0.15978	-0.145000	0.13849	GCT		TCGA-IB-7651-01A-11D-2154-08	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	44	176	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	41	174	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VIT	5212	broad.mit.edu	37	2	37035781	37035781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37035781G>T	ENST00000389975.3	+	14	1813	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	VIT_ENST00000379241.3_Missense_Mutation_p.S482I|VIT_ENST00000401530.1_Missense_Mutation_p.S483I|VIT_ENST00000404084.1_Missense_Mutation_p.S456I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000379242.3_Missense_Mutation_p.S519I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin			57		all_hematologic(82;0.248)			GACGGCTCCAGCAGTGTGGGG	0.612000																								0							SO:0001583	missense			ENST00000389975.3	1	1	hg19	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916504	0.73098	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90202	0.4258	10	0.72032	D	0.01	-25.2816	18.9114	0.92487	0.0:0.0:1.0:0.0	.	483;482;504;519	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	519;504;173;456;482;483	ENSP00000368544:S519I;ENSP00000374625:S504I;ENSP00000417874:S173I;ENSP00000384154:S456I;ENSP00000368543:S482I;ENSP00000385658:S483I	ENSP00000368543:S482I	S	+	2	0	VIT	36889285	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.827000	0.99397	2.461000	0.83175	0.557000	0.71058	AGC		TCGA-IB-7651-01A-11D-2154-08	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	103	329	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	102	326	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRN	6801	broad.mit.edu	37	2	37082439	37082439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37082439C>T	ENST00000263918.4	-	15	1902	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T	STRN_ENST00000379213.2_Missense_Mutation_p.A583T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein			33		Ovarian(717;0.0129)|all_hematologic(82;0.21)			CTGAATGATGCTACCATATGG	0.388000																								0							SO:0001583	missense			ENST00000263918.4	1	1	hg19	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213098	0.39102	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.26810	1.71;1.71	5.21	3.4	0.38934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.172324	0.53938	D	0.000053	T	0.16599	0.0399	N	0.26092	0.79	0.48040	D	0.999572	B;B	0.19817	0.028;0.039	B;B	0.20577	0.03;0.027	T	0.06232	-1.0838	10	0.15952	T	0.53	-14.2069	11.193	0.48696	0.0:0.8504:0.0:0.1496	.	583;632	O43815-2;O43815	.;STRN_HUMAN	T	632;607;583	ENSP00000263918:A632T;ENSP00000368513:A583T	ENSP00000263918:A632T	A	-	1	0	STRN	36935943	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.429000	0.34903	0.577000	0.29470	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1	1	0	1	43	207	0	68	1	9.999997e-01	29	86	0	68	2		0	0	0	0	0	2	1	1	42	202	0	68	2								-19.999800	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR5B	54497	broad.mit.edu	37	2	37208886	37208886	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37208886T>C	ENST00000233099.5	-	36	6058	c.5963A>G	c.(5962-5964)gAt>gGt	p.D1988G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B			77		all_hematologic(82;0.21)			AGAATTTTCATCCAGCAGGTA	0.358000																								0							SO:0001583	missense			ENST00000233099.5	1	1	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136813	0.77662	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.51817	0.76;0.69	5.61	5.61	0.85477	Armadillo-type fold (1);	0.049812	0.85682	D	0.000000	T	0.63117	0.2484	M	0.75615	2.305	0.34128	D	0.664921	P;P	0.41624	0.53;0.757	P;P	0.51866	0.571;0.682	T	0.75193	-0.3404	10	0.54805	T	0.06	-21.388	16.1025	0.81194	0.0:0.0:0.0:1.0	.	1988;1988	Q9P2D3;B9EK47	HTR5B_HUMAN;.	G	1988;1899	ENSP00000233099:D1988G;ENSP00000346531:D1899G	ENSP00000233099:D1988G	D	-	2	0	HEATR5B	37062390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.254000	0.74563	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1	127	358	0	83	1	9.999999e-01	26	42	0	83	2		0	0	0	0	0	2	1	1	126	349	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR5B	54497	broad.mit.edu	37	2	37215952	37215952	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37215952A>G	ENST00000233099.5	-	35	5843	c.5748T>C	c.(5746-5748)aaT>aaC	p.N1916N	HEATR5B_ENST00000354531.2_Silent_p.N1827N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B			77		all_hematologic(82;0.21)			AAAGGGCACGATTGGAATGCT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000233099.5	1	1	hg19	CCDS33181.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1	88	320	0	105	1	9.999997e-01	32	49	0	105	2		0	0	0	0	0	2	1	1	88	310	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR5B	54497	broad.mit.edu	37	2	37232786	37232786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37232786C>T	ENST00000233099.5	-	30	4989	c.4894G>A	c.(4894-4896)Gca>Aca	p.A1632T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B			77		all_hematologic(82;0.21)			TGATCTTCTGCAATATGGACT	0.403000																								0							SO:0001583	missense			ENST00000233099.5	1	1	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629953	0.67015	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.52295	0.67;0.67	5.63	5.63	0.86233	Armadillo-type fold (1);	0.056422	0.64402	D	0.000001	T	0.32466	0.0830	N	0.10874	0.06	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.08493	-1.0719	10	0.22706	T	0.39	-17.3207	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1632	Q9P2D3	HTR5B_HUMAN	T	1632	ENSP00000233099:A1632T;ENSP00000346531:A1632T	ENSP00000233099:A1632T	A	-	1	0	HEATR5B	37086290	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.594000	0.82698	2.652000	0.90054	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1	70	350	0	95	1	9.998379e-01	11	55	0	95	2		0	0	0	0	0	2	1	1	68	346	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR5B	54497	broad.mit.edu	37	2	37268381	37268381	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37268381A>G	ENST00000233099.5	-	19	2846	c.2751T>C	c.(2749-2751)ggT>ggC	p.G917G	HEATR5B_ENST00000354531.2_Silent_p.G917G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B			77		all_hematologic(82;0.21)			GATGCAAACAACCAAGAGCCA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000233099.5	1	1	hg19	CCDS33181.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1	134	410	0	74	1	9.999080e-01	18	26	0	74	2		0	0	0	0	0	2	1	1	128	400	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALLC	55821	broad.mit.edu	37	2	3727504	3727504	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3727504G>A	ENST00000252505.3	+	5	380	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase			30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)			GGAGTCATCCGGGGCTTCGAC	0.552000										HNSCC(21;0.051)														0							SO:0001583	missense			ENST00000252505.3	1	1	hg19	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357656	0.41801	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	2.92	0.33932	Allantoicase domain (1);Galactose-binding domain-like (1);	0.384865	0.29572	N	0.011780	T	0.34135	0.0887	L	0.55743	1.74	0.31510	N	0.663645	B	0.30021	0.265	B	0.24155	0.051	T	0.29731	-1.0002	9	0.28530	T	0.3	-16.8036	3.8873	0.09103	0.2449:0.0:0.5818:0.1733	.	92	Q8N6M5	ALLC_HUMAN	Q	73	.	ENSP00000252505:R73Q	R	+	2	0	ALLC	3705379	0.993000	0.37304	0.953000	0.39169	0.496000	0.33645	1.576000	0.36504	0.865000	0.35603	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1	1	0	1	139	461	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	136	453	0	93	2								-4.041544	1	1	121104	7	40	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR5B	54497	broad.mit.edu	37	2	37283632	37283632	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37283632A>C	ENST00000233099.5	-	16	2445	c.2350T>G	c.(2350-2352)Tct>Gct	p.S784A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B			77		all_hematologic(82;0.21)			AGGGCCACAGAAGCATCAATG	0.408000																								0							SO:0001583	missense			ENST00000233099.5	1	1	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	8.025	0.760378	0.15914	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.58652	0.32;0.32	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	N	0.13168	0.305	0.58432	D	0.999998	B	0.09022	0.002	B	0.15052	0.012	T	0.31052	-0.9957	10	0.02654	T	1	-18.8094	15.5924	0.76543	1.0:0.0:0.0:0.0	.	784	Q9P2D3	HTR5B_HUMAN	A	784	ENSP00000233099:S784A;ENSP00000346531:S784A	ENSP00000233099:S784A	S	-	1	0	HEATR5B	37137136	1.000000	0.71417	0.661000	0.29709	0.879000	0.50718	9.287000	0.95975	2.086000	0.62901	0.482000	0.46254	TCT		TCGA-IB-7651-01A-11D-2154-08	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	0	0	1	144	442	0	121	1	9.999936e-01	26	29	0	121	2		0	0	0	0	0	2	1	1	144	432	0	121	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR5B	54497	broad.mit.edu	37	2	37286131	37286131	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37286131C>T	ENST00000233099.5	-	13	1945		c.e13-1		HEATR5B_ENST00000354531.2_Splice_Site	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B			77		all_hematologic(82;0.21)			CTCCTCATGGCTAGATAAAAT	0.328000																								0							SO:0001630	splice_region_variant			ENST00000233099.5	0	1	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304176	0.81136	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	6.13	6.13	0.99165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR5B	37139635	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.979000	0.70508	2.932000	0.99384	0.644000	0.83932	.		TCGA-IB-7651-01A-11D-2154-08	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1	29	196	0	24	1	1.840756e-01	5	1	0	24	2		0	0	0	0	0	2	1	1	29	196	0	24	2								-14.003480	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999750	0.990000	1	9.900000e-01	1
HEATR5B	54497	broad.mit.edu	37	2	37296066	37296066	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37296066A>G	ENST00000233099.5	-	8	1030	c.935T>C	c.(934-936)gTt>gCt	p.V312A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B			77		all_hematologic(82;0.21)			CACAAAAACAACATACGCCTG	0.423000																								0							SO:0001583	missense			ENST00000233099.5	1	1	hg19	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370946	0.82573	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07800	3.16;3.16	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00731	-1.1590	10	0.34782	T	0.22	-25.8704	16.1819	0.81915	1.0:0.0:0.0:0.0	.	312	Q9P2D3	HTR5B_HUMAN	A	312	ENSP00000233099:V312A;ENSP00000346531:V312A	ENSP00000233099:V312A	V	-	2	0	HEATR5B	37149570	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.182000	0.94881	2.279000	0.76181	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	1	0	1	51	132	0	38	1	9.996566e-01	16	19	0	38	2		0	0	0	0	0	2	1	1	49	130	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF2AK2	5610	broad.mit.edu	37	2	37365484	37365484	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37365484C>A	ENST00000233057.4	-	8	938	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2			22		all_hematologic(82;0.248)			GAGAAGTCACCTTCAGATGAT	0.343000																								0							SO:0001583	missense			ENST00000233057.4	1	1	hg19	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161239	0.21538	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.75821	-0.92;-0.92;-0.97	3.68	1.3	0.21679	.	0.813962	0.10845	N	0.627788	T	0.53965	0.1829	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.43392	0.805;0.805;0.805;0.805	B;B;B;B	0.39185	0.293;0.285;0.285;0.198	T	0.46386	-0.9195	10	0.62326	D	0.03	-6.8153	5.5406	0.17036	0.0:0.2286:0.0:0.7714	.	206;206;206;206	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	C	206	ENSP00000233057:G206C;ENSP00000378559:G206C;ENSP00000385014:G206C	ENSP00000233057:G206C	G	-	1	0	EIF2AK2	37218988	0.006000	0.16342	0.009000	0.14445	0.001000	0.01503	0.034000	0.13776	0.267000	0.21916	-0.416000	0.06073	GGT		TCGA-IB-7651-01A-11D-2154-08	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	1	0	1	63	322	0	62	1	1	43	197	0	62	2		0	0	0	0	0	2	1	9.999999e-01	62	320	1	61	20								-2.615543	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SULT6B1	391365	broad.mit.edu	37	2	37410602	37410602	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37410602T>G	ENST00000535679.1	-	3	367	c.368A>C	c.(367-369)aAa>aCa	p.K123T	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T|SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1			12		all_hematologic(82;0.248)			CCCAGGTAATTTGTCATAGTG	0.358000																								0							SO:0001583	missense			ENST00000535679.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.41	1.630608	0.28978	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.10960	2.82;2.82;2.82	4.73	3.59	0.41128	Sulfotransferase domain (1);	0.363897	0.29198	N	0.012846	T	0.11922	0.0290	L	0.39147	1.195	0.27889	N	0.939396	P	0.34615	0.459	B	0.42959	0.403	T	0.15292	-1.0442	10	0.22706	T	0.39	.	9.2246	0.37398	0.0:0.0873:0.0:0.9127	.	123	Q6IMI4	ST6B1_HUMAN	T	123;85;85	ENSP00000444081:K123T;ENSP00000260637:K85T;ENSP00000384950:K85T	ENSP00000260637:K85T	K	-	2	0	SULT6B1	37264106	0.768000	0.28519	0.991000	0.47740	0.980000	0.70556	0.641000	0.24720	0.843000	0.35070	0.477000	0.44152	AAA		TCGA-IB-7651-01A-11D-2154-08	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	146	341	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	141	331	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SULT6B1	391365	broad.mit.edu	37	2	37415634	37415634	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37415634G>T	ENST00000535679.1	-	1	149	c.150C>A	c.(148-150)acC>acA	p.T50T	SULT6B1_ENST00000379149.2_Silent_p.T50T|SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000407963.1_Silent_p.T12T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1			12		all_hematologic(82;0.248)			TGGCTTCGAAGGTGTCCAGCG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000535679.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	13	539	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	9.995000e-01	12	533	0	92	2								-2.688569	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.300000	0.160000	0.490000	0.300000	0.320672	0.300000	0	2.300000e-01	4.000000e-01
ALLC	55821	broad.mit.edu	37	2	3745013	3745013	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3745013A>C	ENST00000252505.3	+	10	979	c.817A>C	c.(817-819)Act>Cct	p.T273P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase			30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)			TGGAGTAATAACTCGAATTGA	0.368000										HNSCC(21;0.051)														0							SO:0001583	missense			ENST00000252505.3	1	1	hg19	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683681	0.29872	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.6	4.46	0.54185	Allantoicase domain (1);Galactose-binding domain-like (1);	0.292757	0.41001	D	0.000968	T	0.70159	0.3192	M	0.80746	2.51	0.39878	D	0.973603	D	0.58970	0.984	P	0.57846	0.828	T	0.72890	-0.4155	9	0.52906	T	0.07	-29.0378	9.3331	0.38034	0.9157:0.0:0.0843:0.0	.	292	Q8N6M5	ALLC_HUMAN	P	273	.	ENSP00000252505:T273P	T	+	1	0	ALLC	3722888	1.000000	0.71417	0.417000	0.26559	0.085000	0.17905	6.896000	0.75665	0.972000	0.38314	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1	1	0	1	64	426	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	62	415	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CEBPZ	10153	broad.mit.edu	37	2	37454709	37454709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454709G>A	ENST00000234170.5	-	2	1772	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta			28		all_hematologic(82;0.21)			GTGTAATATCGATCCGATATT	0.378000																								0							SO:0001587	stop_gained			ENST00000234170.5	0	1	hg19	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	39	7.375508	0.98245	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7983	0.63184	0.0:0.0:0.7444:0.2555	.	.	.	.	X	543	.	ENSP00000234170:R543X	R	-	1	2	CEBPZ	37308213	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	5.836000	0.69375	2.694000	0.91930	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	1	0	1	181	509	0	115	1	1	7	93	0	115	2		0	0	0	0	0	2	1	1	180	503	0	112	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEBPZ	10153	broad.mit.edu	37	2	37454764	37454764	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454764G>T	ENST00000234170.5	-	2	1717	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta			28		all_hematologic(82;0.21)			TTAAAGCCTGGACACTGGTAT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000234170.5	1	1	hg19	CCDS1787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	1	0	1	113	522	0	106	1	9.999900e-01	16	61	0	106	2		0	0	0	0	0	2	1	1	111	515	0	106	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKD3	23683	broad.mit.edu	37	2	37509721	37509721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509721G>A	ENST00000379066.1	-	7	1714	c.952C>T	c.(952-954)Cca>Tca	p.P318S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S			O94806	KPCD3_HUMAN	protein kinase D3			33		all_hematologic(82;0.21)			CAGTCTCTTGGTACTTTTGAT	0.318000													Melanoma(80;621 1355 8613 11814 51767)											0							SO:0001583	missense			ENST00000379066.1	1	1	hg19	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320904	0.95682	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.92911	-3.13;-3.13	5.62	5.62	0.85841	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.988;0.994	D	0.95794	0.8827	10	0.87932	D	0	-14.6863	20.024	0.97514	0.0:0.0:1.0:0.0	.	318;318	O94806-2;O94806	.;KPCD3_HUMAN	S	318	ENSP00000368356:P318S;ENSP00000234179:P318S	ENSP00000234179:P318S	P	-	1	0	PRKD3	37363225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.809000	0.96659	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	0	0	1	105	326	0	74	0	9.999994e-01	1	66	0	74	2		0	0	0	0	0	2	1	1	105	322	0	73	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKD3	23683	broad.mit.edu	37	2	37509738	37509738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509738C>T	ENST00000379066.1	-	7	1697	c.935G>A	c.(934-936)cGc>cAc	p.R312H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H			O94806	KPCD3_HUMAN	protein kinase D3			33		all_hematologic(82;0.21)			TGATGCACAGCGTTTATGGCA	0.313000													Melanoma(80;621 1355 8613 11814 51767)											0							SO:0001583	missense			ENST00000379066.1	1	1	hg19	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579135	0.96565	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.93604	-3.25;-3.25	5.51	5.51	0.81932	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.83275	0.847;0.996	D	0.96357	0.9263	10	0.87932	D	0	-14.1888	19.7654	0.96337	0.0:1.0:0.0:0.0	.	312;312	O94806-2;O94806	.;KPCD3_HUMAN	H	312	ENSP00000368356:R312H;ENSP00000234179:R312H	ENSP00000234179:R312H	R	-	2	0	PRKD3	37363242	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	1	0	1	99	317	0	71	0	9.999997e-01	1	71	0	71	2		0	0	0	0	0	2	1	1	99	312	0	70	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKD3	23683	broad.mit.edu	37	2	37520372	37520372	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37520372G>T	ENST00000379066.1	-	3	1093	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I			O94806	KPCD3_HUMAN	protein kinase D3			33		all_hematologic(82;0.21)			TGGCGAAAGAGAAGAATTTTG	0.373000													Melanoma(80;621 1355 8613 11814 51767)											0							SO:0001583	missense			ENST00000379066.1	1	1	hg19	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804090	0.90623	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.90261	-0.82;-0.82;-2.64	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	D	0.94650	0.8275	M	0.78916	2.43	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.99;0.992	D	0.94648	0.7836	10	0.66056	D	0.02	-9.5135	12.6994	0.57022	0.0755:0.0:0.9245:0.0	.	111;111	O94806-2;O94806	.;KPCD3_HUMAN	I	111;111;7	ENSP00000368356:L111I;ENSP00000234179:L111I;ENSP00000401839:L7I	ENSP00000234179:L111I	L	-	1	0	PRKD3	37373876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.634000	0.89283	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	1	0	1	47	315	0	61	0	9.971976e-01	0	62	0	61	2		0	0	0	0	0	2	1	1	47	313	0	61	2								-19.669590	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
QPCT	25797	broad.mit.edu	37	2	37586768	37586768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37586768G>A	ENST00000338415.3	+	3	471	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase			17		Ovarian(717;0.051)|all_hematologic(82;0.21)			CTGGGTCTTGGAAATAGACAC	0.423000																								0							SO:0001583	missense			ENST00000338415.3	1	1	hg19	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445183	0.83993	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.28255	1.62;1.62;1.62	5.53	5.53	0.82687	.	0.098347	0.64402	D	0.000001	T	0.57344	0.2047	M	0.85462	2.755	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.57152	0.561;0.814	T	0.64019	-0.6505	10	0.66056	D	0.02	-11.9925	19.4608	0.94916	0.0:0.0:1.0:0.0	.	56;105	Q16769-2;Q16769	.;QPCT_HUMAN	K	105;56;56	ENSP00000344829:E105K;ENSP00000385391:E56K;ENSP00000441606:E56K	ENSP00000344829:E105K	E	+	1	0	QPCT	37440272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.119000	0.71590	2.587000	0.87381	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2	1	0	1	71	340	0	67	0	9.999914e-01	0	83	0	67	2		0	0	0	0	0	2	1	1	70	337	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP1B1	1545	broad.mit.edu	37	2	38298132	38298132	+	Silent	SNP	G	G	A	rs139251365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298132G>A	ENST00000260630.3	-	3	1766	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	CYP1B1_ENST00000407341.1_Silent_p.D455D|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1			13		all_hematologic(82;0.21)		Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TGCTGGTCAGGTCCTTGTTGA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000260630.3	1	1	hg19	CCDS1793.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	1	0	1	58	273	0	61	0	1	1	143	0	61	2		0	0	0	0	0	2	1	1	57	271	0	61	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP1B1	1545	broad.mit.edu	37	2	38298319	38298319	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298319C>A	ENST00000260630.3	-	3	1579	c.1178G>T	c.(1177-1179)aGc>aTc	p.S393I	CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1			13		all_hematologic(82;0.21)		Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	AGGCACAAAGCTGGAGAAGCG	0.547000																								0							SO:0001583	missense			ENST00000260630.3	1	1	hg19	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240725	0.79912	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.80033	-1.33;-1.33	5.85	4.97	0.65823	.	0.255155	0.50627	D	0.000108	D	0.90109	0.6910	M	0.85859	2.78	0.45250	D	0.99825	D	0.76494	0.999	D	0.76575	0.988	D	0.91609	0.5301	10	0.87932	D	0	.	14.1707	0.65508	0.1509:0.8491:0.0:0.0	.	393	Q53TK1	.	I	393	ENSP00000260630:S393I;ENSP00000384972:S393I	ENSP00000260630:S393I	S	-	2	0	CYP1B1	38151823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.720000	0.61944	1.461000	0.47929	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	1	0	1	66	192	0	49	0	1	0	122	0	49	2		0	0	0	0	0	2	1	1	61	186	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GEMIN6	79833	broad.mit.edu	37	2	39008821	39008821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39008821G>T	ENST00000281950.3	+	3	407	c.291G>T	c.(289-291)gaG>gaT	p.E97D	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6			5		all_hematologic(82;0.21)			ACAGCCCAGAGGATCTGGAAG	0.493000																								0							SO:0001583	missense			ENST00000281950.3	0	1	hg19	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413864	0.42817	.	.	ENSG00000152147	ENST00000281950	T	0.52057	0.68	5.78	4.9	0.64082	.	0.096259	0.64402	D	0.000001	T	0.46151	0.1378	L	0.48362	1.52	0.80722	D	1	P	0.38745	0.645	P	0.44623	0.455	T	0.44251	-0.9340	10	0.49607	T	0.09	-23.839	8.9799	0.35959	0.2233:0.0:0.7767:0.0	.	97	Q8WXD5	GEMI6_HUMAN	D	97	ENSP00000281950:E97D	ENSP00000281950:E97D	E	+	3	2	GEMIN6	38862325	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	2.425000	0.44723	1.459000	0.47892	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3	0	0	0	9	309	0	57	1	9.196268e-01	10	144	0	57	2		0	0	0	0	0	2	1	9.934138e-01	8	299	0	55	2								-9.667054	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.370000	0.180000	0.640000	0.360000	0.394818	0.370000	0	2.600000e-01	5.100000e-01
DHX57	90957	broad.mit.edu	37	2	39030003	39030003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39030003G>A	ENST00000295373.6	-	23	3997	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57			62		all_hematologic(82;0.248)			ATGAATACTCGACTAGTTTTT	0.473000													Melanoma(191;1090 2095 4375 23729 47341)											0							SO:0001587	stop_gained			ENST00000295373.6	0	1	hg19	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.309689|5.309689	0.95629|0.95629	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|T	.|0.05717	.|3.4	5.64|5.64	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.48767|.	D|.	0.000166|.	.|T	.|0.18257	.|0.0438	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10520	.|-1.0626	.|5	0.06625|0.87932	T|D	0.88|0	.|.	14.431|14.431	0.67251|0.67251	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	.|.	.|.	.|.	X|L	1291|569	.|ENSP00000397841:S569L	ENSP00000295373:R1291X|ENSP00000397841:S569L	R|S	-|-	1|2	2|0	DHX57|DHX57	38883507|38883507	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.159000|0.159000	0.22180|0.22180	7.860000|7.860000	0.86993|0.86993	1.381000|1.381000	0.46364|0.46364	0.455000|0.455000	0.32223|0.32223	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	0	0	1	126	624	0	151	0	9.996580e-01	0	59	0	151	2		0	0	0	0	0	2	1	1	125	613	0	148	2								-3.227985	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX57	90957	broad.mit.edu	37	2	39033740	39033740	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39033740A>G	ENST00000295373.6	-	22	3903	c.3777T>C	c.(3775-3777)gaT>gaC	p.D1259D		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57			62		all_hematologic(82;0.248)			GTACATATCCATCGTTCTTGG	0.423000													Melanoma(191;1090 2095 4375 23729 47341)											0							SO:0001819	synonymous_variant			ENST00000295373.6	1	1	hg19	CCDS1800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	1	0	0	45	485	0	120	1	9.706629e-01	10	53	0	120	2		0	0	0	0	0	2	1	1	43	471	0	120	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.800000	1.000000	1.000000	0.976415	0.990000	1	9.300000e-01	1
DHX57	90957	broad.mit.edu	37	2	39053104	39053104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39053104G>A	ENST00000295373.6	-	16	3025	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57			62		all_hematologic(82;0.248)			GATGCAACACGGCCTGCTCGG	0.428000													Melanoma(191;1090 2095 4375 23729 47341)											0							SO:0001583	missense			ENST00000295373.6	1	1	hg19	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185001|5.185001	0.94885|0.94885	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	.|D	.|0.94793	.|-3.52	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Helicase, C-terminal (3);	.|0.000000	.|0.56097	.|D	.|0.000036	D|D	0.98551|0.98551	0.9516|0.9516	H|H	0.98155|0.98155	4.16|4.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99379|0.99379	1.0922|1.0922	5|10	.|0.87932	.|D	.|0	.|.	19.7628|19.7628	0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967;359	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	L|C	290|967	.|ENSP00000295373:R967C	.|ENSP00000295373:R967C	P|R	-|-	2|1	0|0	DHX57|DHX57	38906608|38906608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.338000|9.338000	0.96553|0.96553	2.672000|2.672000	0.90937|0.90937	0.555000|0.555000	0.69702|0.69702	CCG|CGT		TCGA-IB-7651-01A-11D-2154-08	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	1	0	1	115	316	0	77	1	9.986436e-01	13	17	0	77	2		0	0	0	0	0	2	1	1	115	312	0	76	2								-6.413752	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX57	90957	broad.mit.edu	37	2	39082360	39082360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39082360G>T	ENST00000295373.6	-	8	1870	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57			62		all_hematologic(82;0.248)			GAATCATCCAGAATAAACTGC	0.413000													Melanoma(191;1090 2095 4375 23729 47341)											0							SO:0001583	missense			ENST00000295373.6	1	1	hg19	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564249	0.65651	.	.	ENSG00000163214	ENST00000295373	T	0.07688	3.17	5.26	4.38	0.52667	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.40728	N	0.001022	T	0.24353	0.0590	M	0.74546	2.27	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00862	-1.1536	10	0.66056	D	0.02	.	6.7108	0.23276	0.3053:0.0:0.6947:0.0	.	582;582;582	Q6P158-2;Q6P158;B4DKW2	.;DHX57_HUMAN;.	M	582	ENSP00000295373:L582M	ENSP00000295373:L582M	L	-	1	2	DHX57	38935864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	1.350000	0.45770	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	1	0	1	204	605	0	157	1	9.992559e-01	15	19	0	157	2	1	1	142	715	0	675	2	1	1	201	595	0	154	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOS1	6654	broad.mit.edu	37	2	39249909	39249909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39249909G>A	ENST00000426016.1	-	11	1746	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F	SOS1_ENST00000402219.2_Missense_Mutation_p.L554F|SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000395038.2_Missense_Mutation_p.L554F			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)			75		all_hematologic(82;0.21)			GTTACATCAAGCATCCTTTCC	0.398000									Noonan syndrome															0							SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	ENST00000426016.1	1	1	hg19	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539986	0.65085	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.88431	-2.38;-2.38;-2.38	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93779	0.7082	10	0.87932	D	0	.	7.5761	0.27937	0.195:0.0:0.805:0.0	.	286;554	F5GX06;Q07889	.;SOS1_HUMAN	F	554;554;286;554;554	ENSP00000387784:L554F;ENSP00000384675:L554F;ENSP00000378479:L554F	ENSP00000263879:L554F	L	-	1	0	SOS1	39103413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.019000	0.49635	2.722000	0.93159	0.557000	0.71058	CTT		TCGA-IB-7651-01A-11D-2154-08	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	1	0	1	140	402	0	84	1	1	32	42	0	84	2		0	0	0	0	0	2	1	1	139	395	0	84	2								-20.000000	1	1	121410	1	31	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOS1	6654	broad.mit.edu	37	2	39285830	39285830	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39285830A>T	ENST00000426016.1	-	4	415	c.329T>A	c.(328-330)aTt>aAt	p.I110N	SOS1_ENST00000402219.2_Missense_Mutation_p.I110N|SOS1_ENST00000428721.2_Missense_Mutation_p.I53N|SOS1_ENST00000395038.2_Missense_Mutation_p.I110N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)			75		all_hematologic(82;0.21)			TAAAGGATGAATTTTTTCTAC	0.343000									Noonan syndrome															0							SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	ENST00000426016.1	1	1	hg19	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612252	0.87258	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.9	5.9	0.94986	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	110	Q07889	SOS1_HUMAN	N	110;110;110;110;53;53	ENSP00000387784:I110N;ENSP00000384675:I110N;ENSP00000378479:I110N;ENSP00000399992:I53N;ENSP00000393899:I53N	ENSP00000263879:I110N	I	-	2	0	SOS1	39139334	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.210000	0.95106	2.251000	0.74343	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	1	0	1	104	534	0	71	1	9.992506e-01	6	50	0	71	2		0	0	0	0	0	2	1	1	104	529	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDKL4	344387	broad.mit.edu	37	2	39406330	39406330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39406330G>A	ENST00000395035.3	-	8	924	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CDKL4_ENST00000378803.1_Nonsense_Mutation_p.Q309*			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4			12		all_hematologic(82;0.248)			GGAAGTACCTGTTGGCGTCTT	0.393000																								0							SO:0001587	stop_gained			ENST00000395035.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.77	2.337558	0.41398	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	.	.	.	5.43	5.43	0.79202	.	0.411149	0.20810	N	0.085268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-4.6979	14.7501	0.69519	0.0:0.0:1.0:0.0	.	.	.	.	X	91;309;309	.	ENSP00000368080:Q309X	Q	-	1	0	CDKL4	39259834	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	4.229000	0.58625	2.560000	0.86352	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	1	0	0	48	624	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	47	617	0	107	2								-10.577110	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.910000	0.680000	1.000000	1.000000	0.901032	0.910000	1	7.900000e-01	1
CDKL4	344387	broad.mit.edu	37	2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39440588C>T	ENST00000395035.3	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000378803.1_Missense_Mutation_p.V106I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4			12		all_hematologic(82;0.248)			TGCCATAATACGCTTTTGATC	0.338000																								0							SO:0001583	missense			ENST00000395035.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.681	1.149388	0.21288	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.62639	0.01;0.01	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000418	T	0.37293	0.0998	N	0.03084	-0.415	0.30363	N	0.783641	B;B	0.18610	0.029;0.0	B;B	0.19148	0.024;0.004	T	0.28427	-1.0044	10	0.21540	T	0.41	-6.6072	13.0982	0.59206	0.0:1.0:0.0:0.0	.	106;106	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	106	ENSP00000368080:V106I;ENSP00000378476:V106I	ENSP00000368080:V106I	V	-	1	0	CDKL4	39294092	0.996000	0.38824	0.997000	0.53966	0.984000	0.73092	0.885000	0.28227	2.147000	0.66899	0.561000	0.74099	GTA		TCGA-IB-7651-01A-11D-2154-08	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	1	0	0	29	401	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	29	395	0	91	2								-7.419782	1	1	121410	2	35	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.860000	0.590000	1.000000	1.000000	0.858507	0.860000	1	7.200000e-01	1
CDKL4	344387	broad.mit.edu	37	2	39452999	39452999	+	Missense_Mutation	SNP	G	G	T	rs61744520	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39452999G>T	ENST00000395035.3	-	2	270	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDKL4_ENST00000378803.1_Missense_Mutation_p.L91M			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4			12		all_hematologic(82;0.248)			TTTCTTTCCAGCTCATTTAAA	0.343000																								0							SO:0001583	missense			ENST00000395035.3	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	18.08	3.543965	0.65198	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.51817	0.69;0.69	5.9	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000603	T	0.55737	0.1939	L	0.45285	1.41	0.54753	D	0.999984	D;P	0.71674	0.998;0.93	D;D	0.75020	0.985;0.97	T	0.50709	-0.8796	10	0.11182	T	0.66	-12.4399	12.7028	0.57043	0.0789:0.0:0.9211:0.0	.	91;91	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	M	91	ENSP00000368080:L91M;ENSP00000378476:L91M	ENSP00000368080:L91M	L	-	1	2	CDKL4	39306503	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.081000	0.71309	1.502000	0.48669	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	1	0	1	24	110	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	9.999998e-01	24	109	0	29	2								-2.886314	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
MAP4K3	8491	broad.mit.edu	37	2	39494335	39494335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39494335C>T	ENST00000263881.3	-	27	2351	c.2027G>A	c.(2026-2028)tGt>tAt	p.C676Y	MAP4K3_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3			44		all_hematologic(82;0.211)			CTTACCAACACAACACTTCTG	0.383000																								0							SO:0001583	missense			ENST00000263881.3	0	1	hg19	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332204	0.81801	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.42	5.42	0.78866	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.983;1.0	T	0.02553	-1.1142	10	0.66056	D	0.02	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	655;676	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	Y	676;592;655;229	ENSP00000263881:C676Y;ENSP00000416958:C592Y;ENSP00000345434:C655Y;ENSP00000440580:C229Y	ENSP00000263881:C676Y	C	-	2	0	MAP4K3	39347839	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.267000	0.78462	2.691000	0.91804	0.655000	0.94253	TGT		TCGA-IB-7651-01A-11D-2154-08	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	0	0	0	13	516	0	84	1	5.671579e-01	4	70	0	84	2		0	0	0	0	0	2	1	9.994931e-01	13	508	0	83	2								-3.460893	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.320000	0.170000	0.510000	0.310000	0.334476	0.320000	0	2.400000e-01	4.200000e-01
MAP4K3	8491	broad.mit.edu	37	2	39583458	39583458	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39583458C>A	ENST00000263881.3	-	3	501	c.177G>T	c.(175-177)caG>caT	p.Q59H	MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H|MAP4K3_ENST00000437545.1_5'UTR|MAP4K3_ENST00000484274.1_Missense_Mutation_p.Q59H	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3			44		all_hematologic(82;0.211)			TAATTTCTTGCTGCACAACTG	0.303000																								0							SO:0001583	missense			ENST00000263881.3	1	1	hg19	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398983	0.83120	.	.	ENSG00000011566	ENST00000263881;ENST00000341681	T;T	0.66460	-0.21;-0.21	5.48	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	L	0.52759	1.655	0.80722	D	1	P;P	0.49307	0.922;0.707	P;P	0.54924	0.764;0.655	T	0.68792	-0.5315	9	.	.	.	.	12.6098	0.56544	0.0:0.9184:0.0:0.0816	.	59;59	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	H	59	ENSP00000263881:Q59H;ENSP00000345434:Q59H	.	Q	-	3	2	MAP4K3	39436962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.236000	0.58675	2.563000	0.86464	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	1	0	1	90	496	0	129	1	9.980252e-01	7	46	0	129	2		0	0	0	0	0	2	1	1	90	491	0	129	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC8A1	6546	broad.mit.edu	37	2	40655686	40655686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:40655686C>A	ENST00000403092.1	-	2	1768	c.1735G>T	c.(1735-1737)Ggg>Tgg	p.G579W	SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G579W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1			100				Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGGCAGTCCCTTCGATGGTT	0.428000																								0							SO:0001583	missense			ENST00000403092.1	0	1	hg19	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471845	0.63737	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.87	5.87	0.94306	Na-Ca exchanger/integrin-beta4 (2);	0.042921	0.85682	D	0.000000	T	0.80879	0.4708	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0	D	0.86691	0.1923	10	0.87932	D	0	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	579;579;579;579;579	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	W	579	ENSP00000383886:G579W;ENSP00000440727:G579W;ENSP00000384763:G579W;ENSP00000385678:G579W;ENSP00000385188:G579W;ENSP00000385535:G579W;ENSP00000332931:G579W;ENSP00000384908:G579W;ENSP00000385811:G579W;ENSP00000443515:G579W	ENSP00000332931:G579W	G	-	1	0	SLC8A1	40509190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	0	0	0	10	499	0	76	0	2.377953e-01	0	42	0	76	2		0	0	0	0	0	2	1	9.961724e-01	10	477	0	76	2								-2.907878	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.250000	0.120000	0.440000	0.240000	0.273020	0.250000	0	1.800000e-01	3.500000e-01
EML4	27436	broad.mit.edu	37	2	42513424	42513424	+	Missense_Mutation	SNP	G	G	A	rs146370925	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42513424G>A	ENST00000318522.5	+	10	1289	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	EML4_ENST00000401738.3_Missense_Mutation_p.V354I|EML4_ENST00000402711.2_Missense_Mutation_p.V285I	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4		EML4/ALK(543)	12					ACAACCCCACGTCAGAGTGTG	0.438000			T	ALK	NSCLC										Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0							SO:0001583	missense			ENST00000318522.5	1	1	hg19	CCDS1807.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.7	4.851680	0.91355	0.0	2.33E-4	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57752	0.38;0.38;0.38	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	L	0.32530	0.975	0.80722	D	1	D;P;D	0.76494	0.975;0.764;0.999	B;B;D	0.77557	0.353;0.391;0.99	T	0.53648	-0.8409	10	0.14252	T	0.57	-11.591	18.5327	0.90999	0.0:0.0:1.0:0.0	.	285;354;343	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	I	343;285;354	ENSP00000320663:V343I;ENSP00000385059:V285I;ENSP00000384939:V354I	ENSP00000320663:V343I	V	+	1	0	EML4	42366928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.438000	0.82558	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	1	0	1	95	261	0	71	1	1	27	66	0	71	2		0	0	0	0	0	2	1	1	95	257	1	71	17								-20.000000	1	1	121412	9	42	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNG3	170850	broad.mit.edu	37	2	42720251	42720251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720251C>T	ENST00000306078.1	-	1	986	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3			6					ACGCCCGGCTCGTCGGCCGAG	0.736000																								0							SO:0001583	missense			ENST00000306078.1	1	1	hg19	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929283	0.52759	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.97553	-4.32;-4.43	3.95	3.95	0.45737	.	0.481267	0.20652	N	0.088195	D	0.92368	0.7578	L	0.42245	1.32	0.53688	D	0.999971	P;P	0.40398	0.716;0.628	B;B	0.25759	0.041;0.063	D	0.91555	0.5260	10	0.42905	T	0.14	.	9.9485	0.41626	0.0:0.9055:0.0:0.0945	.	131;131	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	K	131	ENSP00000304127:E131K;ENSP00000378424:E131K	ENSP00000304127:E131K	E	-	1	0	KCNG3	42573755	0.999000	0.42202	0.830000	0.32933	0.594000	0.36715	4.229000	0.58625	2.024000	0.59613	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	1	0	0	16	78	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.999484e-01	16	75	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999871	0.990000	1	9.900000e-01	1
KCNG3	170850	broad.mit.edu	37	2	42720563	42720563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720563G>T	ENST00000306078.1	-	1	674	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	KCNG3_ENST00000394973.4_Missense_Mutation_p.L27M|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3			6					AAGTCCTTCAGCAGCTCCCGG	0.726000																								0							SO:0001583	missense			ENST00000306078.1	1	1	hg19	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268667	0.40095	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	T;T	0.69561	-0.41;-0.41	3.31	1.22	0.21188	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.355130	0.27730	N	0.018099	T	0.59878	0.2226	M	0.76727	2.345	0.28499	N	0.914113	B;B	0.30763	0.294;0.115	B;B	0.29942	0.109;0.046	T	0.59343	-0.7472	10	0.87932	D	0	.	4.8286	0.13428	0.2219:0.0:0.6048:0.1734	.	27;27	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	M	27	ENSP00000304127:L27M;ENSP00000378424:L27M	ENSP00000304127:L27M	L	-	1	2	KCNG3	42574067	0.998000	0.40836	0.970000	0.41538	0.996000	0.88848	1.124000	0.31320	0.583000	0.29574	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	1	0	0	20	40	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.999990e-01	20	40	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAAO	23498	broad.mit.edu	37	2	43015685	43015685	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43015685A>T	ENST00000294973.6	-	2	198	c.143T>A	c.(142-144)aTc>aAc	p.I48N		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase			11					ACCCTCTTCGATGTGATAGTC	0.597000																								0							SO:0001583	missense			ENST00000294973.6	1	1	hg19	CCDS33187.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	21.6	4.174278	0.78452	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.33654	1.4;1.4	5.44	5.44	0.79542	Cupin, RmlC-type (1);	0.068157	0.56097	D	0.000034	T	0.66406	0.2786	M	0.90650	3.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74216	-0.3737	10	0.87932	D	0	.	13.4538	0.61187	1.0:0.0:0.0:0.0	.	48	P46952	3HAO_HUMAN	N	48;14	ENSP00000294973:I48N;ENSP00000412601:I14N	ENSP00000294973:I48N	I	-	2	0	HAAO	42869189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.083000	0.76859	2.065000	0.61736	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2	0	0	0	13	440	0	73	0	3.249909e-01	0	38	0	73	2		0	0	0	0	0	2	1	9.994174e-01	13	423	0	71	2								-3.623475	1	1	121412	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.370000	0.200000	0.600000	0.360000	0.389942	0.370000	0	2.800000e-01	4.900000e-01
ZFP36L2	678	broad.mit.edu	37	2	43451467	43451467	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43451467G>A	ENST00000282388.3	-	2	1769	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2			15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)			CTCAGTCGTCGGAGATGGAGA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000282388.3	1	1	hg19	CCDS1811.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	1	0	0	18	59	0	17	1	1	203	724	0	17	2		0	0	0	0	0	2	1	9.998580e-01	14	41	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZFP36L2	678	broad.mit.edu	37	2	43453409	43453409	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43453409A>G	ENST00000282388.3	-	1	339	c.46T>C	c.(46-48)Tgc>Cgc	p.C16R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2			15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)			CCTACCTTGCACAAGAAGTCG	0.662000																								0							SO:0001583	missense			ENST00000282388.3	0	1	hg19	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857535	0.51376	.	.	ENSG00000152518	ENST00000282388	T	0.44881	0.91	5.28	5.28	0.74379	Tis11B-like protein, N-terminal (1);	0.082085	0.53938	D	0.000041	T	0.48572	0.1507	L	0.43152	1.355	0.80722	D	1	P	0.48998	0.918	P	0.52267	0.694	T	0.49725	-0.8909	10	0.59425	D	0.04	-9.141	14.8955	0.70642	1.0:0.0:0.0:0.0	.	16	P47974	TISD_HUMAN	R	16	ENSP00000282388:C16R	ENSP00000282388:C16R	C	-	1	0	ZFP36L2	43306913	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.274000	0.72587	1.998000	0.58463	0.533000	0.62120	TGC		TCGA-IB-7651-01A-11D-2154-08	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	0	0	0	4	38	0	15	1	9.999199e-01	73	266	0	15	2		0	0	0	0	0	2	1	8.936202e-01	4	38	0	15	2								-9.356712	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.450000	1.000000	1.000000	0.924911	0.990000	1	7.900000e-01	1
THADA	63892	broad.mit.edu	37	2	43625219	43625219	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43625219A>C	ENST00000405006.4	-	29	4469	c.4118T>G	c.(4117-4119)tTt>tGt	p.F1373C	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated			66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)			TATCATAACAAATGGGACCAA	0.473000																								0							SO:0001583	missense			ENST00000405006.4	1	1	hg19	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.944723|3.944723	0.73672|0.73672	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72455|0.72455	0.3462|0.3462	M|M	0.70275|0.70275	2.135|2.135	0.47994|0.47994	D|D	0.999564|0.999564	D;D;D;D|.	0.76494|.	0.996;0.999;0.987;0.964|.	P;D;P;P|.	0.64506|.	0.889;0.926;0.717;0.541|.	T|T	0.73069|0.73069	-0.4099|-0.4099	10|5	0.39692|.	T|.	0.17|.	.|.	14.0046|14.0046	0.64456|0.64456	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1052;1300;1054;1373|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	C|V	1373;1300;1054;1373|613	ENSP00000386088:F1373C;ENSP00000416048:F1054C;ENSP00000385995:F1373C|.	ENSP00000349464:F1300C|.	F|L	-|-	2|1	0|2	THADA|THADA	43478723|43478723	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.982000|0.982000	0.71751|0.71751	5.562000|5.562000	0.67346|0.67346	1.943000|1.943000	0.56356|0.56356	0.528000|0.528000	0.53228|0.53228	TTT|TTG		TCGA-IB-7651-01A-11D-2154-08	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1	134	397	0	102	1	9.998198e-01	10	30	0	102	2		0	0	0	0	0	2	1	1	134	389	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THADA	63892	broad.mit.edu	37	2	43768414	43768414	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43768414G>T	ENST00000405006.4	-	21	3499	c.3148C>A	c.(3148-3150)Ctg>Atg	p.L1050M	THADA_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated			66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)			CAACATACCAGCACCATCTGC	0.403000																								0							SO:0001583	missense			ENST00000405006.4	1	1	hg19	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.763218|3.763218	0.69763|0.69763	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.72277	.|0.3440	M|M	0.62154|0.62154	1.92|1.92	0.51012|0.51012	D|D	0.999901|0.999901	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	.|T	.|0.73544	.|-0.3949	.|10	.|0.87932	.|D	.|0	.|.	19.7706|19.7706	0.96363|0.96363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|760;1051;760;1050	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	X|M	363|760;1050;1051;760;1050	.|ENSP00000331105:L760M;ENSP00000386088:L1050M;ENSP00000416048:L760M;ENSP00000385995:L1050M	.|ENSP00000331105:L760M	C|L	-|-	3|1	2|2	THADA|THADA	43621918|43621918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.992000|3.992000	0.56980|0.56980	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGC|CTG		TCGA-IB-7651-01A-11D-2154-08	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1	148	974	0	214	1	9.886613e-01	11	36	0	214	2		0	0	0	0	0	2	1	1	146	952	0	213	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THADA	63892	broad.mit.edu	37	2	43801511	43801511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43801511C>T	ENST00000405006.4	-	11	2044	c.1693G>A	c.(1693-1695)Gta>Ata	p.V565I	THADA_ENST00000403856.1_Missense_Mutation_p.V565I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I|THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated			66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)			AGAATCTTTACCATGTACTGT	0.299000																								0							SO:0001583	missense			ENST00000405006.4	1	1	hg19	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870952	0.33069	2.77E-4	0.0	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.64438	1.59;1.59;1.59;1.59;-0.1;-0.1;1.59	5.94	5.94	0.96194	Armadillo-type fold (1);	0.138436	0.48767	D	0.000176	T	0.44265	0.1285	L	0.39397	1.21	0.34512	D	0.707249	P;B;P;B;P	0.38020	0.597;0.319;0.566;0.431;0.615	B;B;B;B;B	0.33568	0.166;0.069;0.138;0.065;0.1	T	0.51888	-0.8648	10	0.12430	T	0.62	-0.738	5.7072	0.17915	0.1707:0.6832:0.0:0.1461	.	565;565;565;275;565	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	I	275;565;565;275;565;565;565;565	ENSP00000331105:V275I;ENSP00000386088:V565I;ENSP00000416048:V275I;ENSP00000385995:V565I;ENSP00000385441:V565I;ENSP00000384266:V565I;ENSP00000385469:V565I	ENSP00000331105:V275I	V	-	1	0	THADA	43655015	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.380000	0.52448	2.816000	0.96949	0.561000	0.74099	GTA		TCGA-IB-7651-01A-11D-2154-08	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1	14	54	0	20	1	9.990071e-01	21	30	0	20	2		0	0	0	0	0	2	1	9.998295e-01	14	52	0	20	2								-12.075370	1	1	120698	7	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
THADA	63892	broad.mit.edu	37	2	43805724	43805724	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43805724C>T	ENST00000405006.4	-	9	1095	c.744G>A	c.(742-744)caG>caA	p.Q248Q	THADA_ENST00000403856.1_Silent_p.Q248Q|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000330266.7_5'Flank	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated			66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)			CAGATGTGCTCTGTACAGTCT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000405006.4	1	1	hg19	CCDS46268.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1	45	175	0	32	1	9.430170e-01	10	11	0	32	2		0	0	0	0	0	2	1	1	45	170	0	32	2								-3.310962	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THADA	63892	broad.mit.edu	37	2	43814082	43814082	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43814082C>T	ENST00000405006.4	-	5	713	c.362G>A	c.(361-363)cGt>cAt	p.R121H	THADA_ENST00000403856.1_Missense_Mutation_p.R121H|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000402360.2_Missense_Mutation_p.R121H	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated			66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)			TTCCTGAAGACGAGAAGTAAA	0.348000																								0							SO:0001583	missense			ENST00000405006.4	1	1	hg19	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107737	0.37242	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.64803	2.95;2.95;-0.12;-0.12;1.5	4.62	3.68	0.42216	.	0.172595	0.50627	N	0.000101	T	0.44644	0.1303	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.15473	0.013;0.003;0.002;0.003	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.31081	-0.9956	10	0.34782	T	0.22	-7.7899	9.4071	0.38469	0.0:0.8861:0.0:0.1139	.	121;121;121;121	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	H	121	ENSP00000386088:R121H;ENSP00000385995:R121H;ENSP00000385441:R121H;ENSP00000384266:R121H;ENSP00000385469:R121H	ENSP00000349464:R121H	R	-	2	0	THADA	43667586	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.857000	0.39399	1.164000	0.42652	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1	22	156	0	37	1	9.784196e-01	8	39	0	37	2		0	0	0	0	0	2	1	9.999989e-01	22	151	0	37	2								-11.249500	1	1	120774	10	37	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998723	0.990000	1	9.900000e-01	1
PLEKHH2	130271	broad.mit.edu	37	2	43922354	43922354	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43922354A>G	ENST00000282406.4	+	6	603	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			AATGCAGTCAAAACTACAAGG	0.308000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863972	0.71949	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.58	5.58	0.84498	.	0.109197	0.64402	D	0.000007	T	0.57242	0.2040	L	0.43152	1.355	0.40111	D	0.976488	P;P	0.47034	0.524;0.889	B;P	0.51170	0.095;0.661	T	0.59418	-0.7458	10	0.48119	T	0.1	-20.5962	15.7573	0.78043	1.0:0.0:0.0:0.0	.	165;165	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	E	165	ENSP00000282406:K165E	ENSP00000282406:K165E	K	+	1	0	PLEKHH2	43775858	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	5.168000	0.64978	2.120000	0.65058	0.477000	0.44152	AAA		TCGA-IB-7651-01A-11D-2154-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1	19	48	0	17	1	9.270453e-01	5	9	0	17	2		0	0	0	0	0	2	1	9.999956e-01	19	45	0	17	2								-17.463960	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHH2	130271	broad.mit.edu	37	2	43924345	43924345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43924345C>A	ENST00000282406.4	+	7	648	c.538C>A	c.(538-540)Cta>Ata	p.L180I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			TGTCTCTACACTAAAGCTTTC	0.383000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247779	0.10130	.	.	ENSG00000152527	ENST00000282406	T	0.52057	0.68	5.04	1.11	0.20524	.	0.772541	0.12600	N	0.454790	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.18871	0.0;0.023	T	0.22521	-1.0214	10	0.18276	T	0.48	0.731	4.2415	0.10650	0.1307:0.6025:0.1261:0.1407	.	180;180	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	I	180	ENSP00000282406:L180I	ENSP00000282406:L180I	L	+	1	2	PLEKHH2	43777849	0.034000	0.19679	0.001000	0.08648	0.697000	0.40408	2.367000	0.44213	-0.083000	0.12618	-0.312000	0.09012	CTA		TCGA-IB-7651-01A-11D-2154-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1	64	642	0	126	0	3.031319e-01	1	11	0	126	2		0	0	0	0	0	2	1	1	63	633	0	125	2								-17.037950	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.900000	1.000000	1.000000	0.993475	0.990000	1	9.900000e-01	1
PLEKHH2	130271	broad.mit.edu	37	2	43939382	43939382	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43939382A>G	ENST00000282406.4	+	15	2430	c.2320A>G	c.(2320-2322)Aca>Gca	p.T774A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			TGAAAAACACACATACTATCT	0.383000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897967	0.72639	.	.	ENSG00000152527	ENST00000282406	T	0.15017	2.46	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.110415	0.64402	D	0.000007	T	0.34687	0.0906	M	0.83692	2.655	0.44201	D	0.997028	P;B	0.46327	0.876;0.4	P;B	0.49252	0.604;0.173	T	0.28554	-1.0040	10	0.56958	D	0.05	-20.575	14.981	0.71311	1.0:0.0:0.0:0.0	.	774;211	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	A	774	ENSP00000282406:T774A	ENSP00000282406:T774A	T	+	1	0	PLEKHH2	43792886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.179000	0.58290	1.935000	0.56089	0.377000	0.23210	ACA		TCGA-IB-7651-01A-11D-2154-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1	98	492	0	101	1	9.118923e-01	6	17	0	101	2		0	0	0	0	0	2	1	1	96	483	0	101	2								-20.000000	1	1	121412	12	42	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHH2	130271	broad.mit.edu	37	2	43953531	43953531	+	Missense_Mutation	SNP	G	G	A	rs146823531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43953531G>A	ENST00000282406.4	+	17	2772	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			TTATACTATCGTTATCCATCC	0.398000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764779	0.31228	0.0	2.33E-4	ENSG00000152527	ENST00000282406	T	0.22539	1.95	5.57	4.68	0.58851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.253763	0.38959	N	0.001506	T	0.22551	0.0544	L	0.53617	1.68	0.21802	N	0.99954	B;B	0.19935	0.04;0.017	B;B	0.20184	0.028;0.004	T	0.11817	-1.0572	10	0.38643	T	0.18	-6.5994	13.539	0.61662	0.0757:0.0:0.9243:0.0	.	888;325	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	I	888	ENSP00000282406:V888I	ENSP00000282406:V888I	V	+	1	0	PLEKHH2	43807035	0.998000	0.40836	0.020000	0.16555	0.472000	0.32918	4.963000	0.63694	1.307000	0.44944	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1	68	291	0	54	1	8.055416e-01	3	12	0	54	2		0	0	0	0	0	2	1	1	64	288	0	54	2								-20.000000	1	1	121412	7	42	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHH2	130271	broad.mit.edu	37	2	43965632	43965632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43965632G>A	ENST00000282406.4	+	20	3206	c.3096G>A	c.(3094-3096)caG>caA	p.Q1032Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			GACGAAGACAGCCACAGAATC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000282406.4	1	1	hg19	CCDS1812.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1	131	337	0	84	1	9.698489e-01	7	10	0	84	2		0	0	0	0	0	2	1	1	130	332	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHH2	130271	broad.mit.edu	37	2	43970029	43970029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43970029C>T	ENST00000282406.4	+	22	3481	c.3371C>T	c.(3370-3372)cCt>cTt	p.P1124L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			TTTAGTATACCTGTGCACTTC	0.413000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805841	0.90623	.	.	ENSG00000152527	ENST00000282406	T	0.74526	-0.85	5.3	5.3	0.74995	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89272	0.3605	10	0.72032	D	0.01	-20.4487	18.9515	0.92643	0.0:1.0:0.0:0.0	.	1124	Q8IVE3	PKHH2_HUMAN	L	1124	ENSP00000282406:P1124L	ENSP00000282406:P1124L	P	+	2	0	PLEKHH2	43823533	1.000000	0.71417	0.872000	0.34217	0.872000	0.50106	7.487000	0.81328	2.459000	0.83118	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	0	0	14	424	0	90	1	2.355907e-01	2	25	0	90	2		0	0	0	0	0	2	1	9.997470e-01	14	420	0	89	2								-2.486837	0	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.410000	0.230000	0.650000	0.400000	0.431931	0.410000	0	3.100000e-01	5.400000e-01
PLEKHH2	130271	broad.mit.edu	37	2	43973084	43973084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43973084G>A	ENST00000282406.4	+	24	3745	c.3635G>A	c.(3634-3636)cGt>cAt	p.R1212H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			AGGACTGTTCGTCTGACATAC	0.373000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102805	0.76983	.	.	ENSG00000152527	ENST00000282406	T	0.54279	0.58	5.74	5.74	0.90152	Band 4.1 domain (1);FERM domain (1);	0.052470	0.85682	D	0.000000	T	0.74107	0.3673	M	0.74258	2.255	0.58432	D	0.999995	D	0.89917	1.0	D	0.75020	0.985	T	0.75345	-0.3350	10	0.66056	D	0.02	-19.9695	19.9186	0.97074	0.0:0.0:1.0:0.0	.	1212	Q8IVE3	PKHH2_HUMAN	H	1212	ENSP00000282406:R1212H	ENSP00000282406:R1212H	R	+	2	0	PLEKHH2	43826588	1.000000	0.71417	0.933000	0.37362	0.688000	0.40055	5.197000	0.65141	2.716000	0.92895	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1	34	137	0	37	1	9.716463e-01	3	23	0	37	2		0	0	0	0	0	2	1	1	34	136	0	37	2								-19.987070	1	1	121410	6	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCG5	64240	broad.mit.edu	37	2	44051455	44051455	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44051455T>A	ENST00000260645.1	-	8	1160	c.1021A>T	c.(1021-1023)Aat>Tat	p.N341Y	ABCG5_ENST00000405322.1_Missense_Mutation_p.N170Y|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5			33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)		Ezetimibe(DB00973)	CTTTCAATATTCTTCAAAGTT	0.388000																								0							SO:0001583	missense			ENST00000260645.1	1	1	hg19	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646928	0.47258	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;T	0.90563	-2.69;-1.3	5.61	3.28	0.37604	.	3.690330	0.00597	N	0.000373	D	0.85492	0.5709	N	0.19112	0.55	0.80722	D	1	D;P	0.57899	0.981;0.845	B;B	0.42062	0.374;0.36	T	0.73107	-0.4087	10	0.62326	D	0.03	.	8.2634	0.31799	0.0:0.2363:0.0:0.7637	.	170;341	E7EX35;Q9H222	.;ABCG5_HUMAN	Y	341;170	ENSP00000260645:N341Y;ENSP00000384513:N170Y	ENSP00000260645:N341Y	N	-	1	0	ABCG5	43904959	0.060000	0.20803	0.738000	0.30950	0.601000	0.36947	0.565000	0.23578	0.520000	0.28426	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	1	0	1	154	698	0	103	0	2.256471e-01	0	5	0	103	2		0	0	0	0	0	2	1	1	153	689	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRPPRC	10128	broad.mit.edu	37	2	44121724	44121724	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44121724A>G	ENST00000260665.7	-	36	4002	c.3945T>C	c.(3943-3945)aaT>aaC	p.N1315N	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing			41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			CTTCCTTTTCATTTAATTCAG	0.269000																								0							SO:0001819	synonymous_variant			ENST00000260665.7	1	1	hg19	CCDS33189.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	1	0	1	44	295	0	61	1	1	87	243	0	61	2		0	0	0	0	0	2	1	1	44	288	0	61	2								-18.997790	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
LRPPRC	10128	broad.mit.edu	37	2	44132886	44132886	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44132886G>A	ENST00000260665.7	-	31	3366	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing			41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			TGGCAGCATCGTTCAGTGTGA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000260665.7	1	1	hg19	CCDS33189.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	1	0	1	112	224	0	69	1	1	149	196	0	69	2		0	0	0	0	0	2	1	1	112	220	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC3A1	6519	broad.mit.edu	37	2	44502742	44502742	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44502742G>T	ENST00000260649.6	+	1	144	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1			26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)		L-Cystine(DB00138)	ACAAACAACGGGTTTGTCCAT	0.517000																								0							SO:0001583	missense			ENST00000260649.6	1	1	hg19	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078546	0.55753	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99719	-5.95;-6.52;-6.03;-6.41;-6.51	5.39	5.39	0.77823	.	0.114768	0.64402	D	0.000014	D	0.99658	0.9873	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.97981	1.0349	10	0.87932	D	0	-20.3066	19.1557	0.93509	0.0:0.0:1.0:0.0	.	23;23;23;23;23	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	V	23	ENSP00000260649:G23V;ENSP00000387308:G23V;ENSP00000387337:G23V;ENSP00000386954:G23V;ENSP00000386620:G23V	ENSP00000260649:G23V	G	+	2	0	SLC3A1	44356246	1.000000	0.71417	0.967000	0.41034	0.147000	0.21601	5.153000	0.64888	2.517000	0.84864	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	1	0	1	30	123	0	36	1	9.999994e-01	2	100	0	36	2		0	0	0	0	0	2	1	1	30	120	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC3A1	6519	broad.mit.edu	37	2	44508543	44508543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44508543G>A	ENST00000260649.6	+	3	704	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1			26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)		L-Cystine(DB00138)	ATTAATCATCGATTTCATACC	0.348000																								0							SO:0001583	missense			ENST00000260649.6	1	1	hg19	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907315	0.72868	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99960	-9.19;-9.19;-7.36;-9.19;-9.19	4.19	4.19	0.49359	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.054621	0.64402	N	0.000001	D	0.99971	0.9990	H	0.98701	4.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.998	D	0.96864	0.9634	10	0.62326	D	0.03	-12.8222	17.147	0.86768	0.0:0.0:1.0:0.0	.	210;210;210;210;210	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	N	210;210;146;210;210;210;210	ENSP00000260649:D210N;ENSP00000387308:D210N;ENSP00000387337:D210N;ENSP00000386954:D210N;ENSP00000386620:D210N	ENSP00000260649:D210N	D	+	1	0	SLC3A1	44362047	1.000000	0.71417	0.952000	0.39060	0.467000	0.32768	9.024000	0.93689	2.323000	0.78572	0.551000	0.68910	GAT		TCGA-IB-7651-01A-11D-2154-08	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	1	0	1	65	237	0	64	0	9.999999e-01	1	88	0	64	2		0	0	0	0	0	2	1	1	61	229	0	64	2								-3.765114	1	1	121412	1	26	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC3A1	6519	broad.mit.edu	37	2	44547732	44547732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44547732G>A	ENST00000260649.6	+	10	2088	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1			26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)		L-Cystine(DB00138)	GTTTCCAATCGAGCATGCTAT	0.418000																								0							SO:0001583	missense			ENST00000260649.6	1	1	hg19	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347062	0.82022	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99129	-5.46;-4.86;-4.55	5.99	0.529	0.17095	.	0.164236	0.52532	N	0.000062	D	0.96772	0.8946	M	0.68317	2.08	0.58432	D	0.999999	P	0.50066	0.931	B	0.36378	0.223	D	0.93093	0.6501	10	0.66056	D	0.02	-4.4218	8.1944	0.31387	0.6839:0.0:0.3161:0.0	.	671	Q07837	SLC31_HUMAN	Q	671;607;393;302	ENSP00000260649:R671Q;ENSP00000386709:R393Q;ENSP00000386677:R302Q	ENSP00000260649:R671Q	R	+	2	0	SLC3A1	44401236	1.000000	0.71417	0.010000	0.14722	0.823000	0.46562	3.321000	0.51999	0.146000	0.19002	-0.768000	0.03414	CGA		TCGA-IB-7651-01A-11D-2154-08	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	1	0	0	41	272	0	56	1	1	38	276	0	56	2		0	0	0	0	0	2	1	1	41	270	0	56	2								-2.966975	1	1	121410	3	35	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
SIX3	6496	broad.mit.edu	37	2	45169609	45169609	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169609C>T	ENST00000260653.3	+	1	708	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3			11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			CCGGGGCGTGCGAGGCCATCA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000260653.3	0	1	hg19	CCDS1821.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	0	0	0	6	186	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	9.621663e-01	6	180	0	29	2								-8.336727	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.420000	0.170000	0.800000	0.390000	0.452403	0.420000	0	2.800000e-01	6.100000e-01
SIX3	6496	broad.mit.edu	37	2	45169644	45169644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169644C>T	ENST00000260653.3	+	1	743	c.401C>T	c.(400-402)gCg>gTg	p.A134V	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3			11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			ATCCTGCGCGCGCGCGCCGTG	0.667000																								0							SO:0001583	missense			ENST00000260653.3	0	1	hg19	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548820	0.65311	.	.	ENSG00000138083	ENST00000260653	D	0.97209	-4.29	3.03	3.03	0.35002	.	0.000000	0.64402	U	0.000002	D	0.98061	0.9361	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	D	0.98487	1.0608	10	0.62326	D	0.03	.	13.7481	0.62887	0.0:1.0:0.0:0.0	.	134	O95343	SIX3_HUMAN	V	134	ENSP00000260653:A134V	ENSP00000260653:A134V	A	+	2	0	SIX3	45023148	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.354000	0.79424	1.509000	0.48786	0.484000	0.47621	GCG		TCGA-IB-7651-01A-11D-2154-08	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	0	0	0	7	169	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.827482e-01	7	173	0	26	2								-9.785880	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.530000	0.240000	0.960000	1.000000	0.560421	0.530000	0	3.600000e-01	7.500000e-01
SRBD1	55133	broad.mit.edu	37	2	45645577	45645577	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45645577G>T	ENST00000263736.4	-	18	2322	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1			49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		TTTGGGCCCAGCCCTTTCACT	0.423000																								0							SO:0001583	missense			ENST00000263736.4	1	1	hg19	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337017	0.60963	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.36340	1.57;1.26	5.96	5.08	0.68730	Tex RuvX-like domain (1);	0.200635	0.42964	N	0.000623	T	0.46776	0.1410	L	0.49699	1.58	0.40511	D	0.98073	D	0.53312	0.959	P	0.56960	0.81	T	0.50224	-0.8853	10	0.87932	D	0	.	10.3659	0.44024	0.0739:0.0:0.7898:0.1363	.	754	Q8N5C6	SRBD1_HUMAN	M	754;273	ENSP00000263736:L754M;ENSP00000441272:L273M	ENSP00000263736:L754M	L	-	1	2	SRBD1	45499081	1.000000	0.71417	0.807000	0.32361	0.798000	0.45092	2.663000	0.46774	1.520000	0.48965	-0.195000	0.12781	CTG		TCGA-IB-7651-01A-11D-2154-08	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	1	0	1	181	455	0	106	1	9.999996e-01	13	43	0	106	2		0	0	0	0	0	2	1	1	178	445	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRBD1	55133	broad.mit.edu	37	2	45715393	45715393	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45715393T>G	ENST00000263736.4	-	15	2014	c.1952A>C	c.(1951-1953)aAt>aCt	p.N651T	SRBD1_ENST00000535761.1_Missense_Mutation_p.N170T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1			49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		ACTTCTCAAATTAGGGTCCAG	0.413000																								0							SO:0001583	missense			ENST00000263736.4	0	1	hg19	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950353	0.73787	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.28454	2.03;1.61	4.92	4.92	0.64577	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.03281	-0.365	0.47737	D	0.999508	D	0.76494	0.999	D	0.66602	0.945	T	0.35101	-0.9802	10	0.45353	T	0.12	.	12.1702	0.54155	0.0:0.0:0.0:1.0	.	651	Q8N5C6	SRBD1_HUMAN	T	651;170	ENSP00000263736:N651T;ENSP00000441272:N170T	ENSP00000263736:N651T	N	-	2	0	SRBD1	45568897	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.617000	0.74210	2.074000	0.62210	0.482000	0.46254	AAT		TCGA-IB-7651-01A-11D-2154-08	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	0	0	0	12	300	0	64	1	5.982695e-01	2	48	0	64	2	0	0	0	1	0	0	2	1	9.990760e-01	12	295	0	64	2								-13.312370	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.500000	0.270000	0.810000	0.480000	0.522807	0.500000	0	3.700000e-01	6.600000e-01
PRKCE	5581	broad.mit.edu	37	2	46234679	46234679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46234679C>T	ENST00000306156.3	+	9	1469	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	PRKCE_ENST00000394874.1_Missense_Mutation_p.S104F	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon		MBOAT2/PRKCE(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)	Tamoxifen(DB00675)	GCAGCATCGTCTCCTGATGGC	0.542000																								0							SO:0001583	missense			ENST00000306156.3	1	1	hg19	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901205	0.17760	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.69926	-0.44;0.28	5.53	3.7	0.42460	.	0.437979	0.26518	N	0.023936	T	0.46073	0.1374	N	0.08118	0	0.24205	N	0.995496	B	0.32010	0.351	B	0.25506	0.061	T	0.38929	-0.9638	10	0.51188	T	0.08	.	16.0086	0.80380	0.0:0.7317:0.2683:0.0	.	381	Q02156	KPCE_HUMAN	F	381;104	ENSP00000306124:S381F;ENSP00000378341:S104F	ENSP00000306124:S381F	S	+	2	0	PRKCE	46088183	0.977000	0.34250	0.006000	0.13384	0.007000	0.05969	3.915000	0.56409	0.838000	0.34948	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2	1	0	1	108	311	0	78	1	9.976121e-01	4	25	0	78	2		0	0	0	0	0	2	1	1	106	306	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPAS1	2034	broad.mit.edu	37	2	46603819	46603819	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46603819G>T	ENST00000263734.3	+	9	1686	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1			39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)		TATTCACCAAGCTAAAGGAGG	0.562000																								0							SO:0001583	missense			ENST00000263734.3	1	1	hg19	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586851	0.46110	.	.	ENSG00000116016	ENST00000263734	T	0.53640	0.61	5.38	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.82193	2.58	0.49213	D	0.999769	B	0.21225	0.053	B	0.21917	0.037	T	0.51631	-0.8681	10	0.72032	D	0.01	.	8.7763	0.34765	0.3083:0.0:0.6917:0.0	.	392	Q99814	EPAS1_HUMAN	N	392	ENSP00000263734:K392N	ENSP00000263734:K392N	K	+	3	2	EPAS1	46457323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.883000	0.28200	0.628000	0.30357	0.462000	0.41574	AAG		TCGA-IB-7651-01A-11D-2154-08	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1	107	772	0	127	1	1	27	232	0	127	2		0	0	0	0	0	2	1	1	106	767	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPAS1	2034	broad.mit.edu	37	2	46605085	46605085	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605085G>A	ENST00000263734.3	+	10	1812	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1			39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)		TCCTGCCCCCGAGCCAGCCAT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000263734.3	0	1	hg19	CCDS1825.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	0	0	0	8	18	0	10	1	1	52	164	0	10	2		0	0	0	0	0	2	1	9.933180e-01	8	18	0	9	2								-10.266230	1	1	116936	2	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999878	0.990000	1	9.900000e-01	1
EPAS1	2034	broad.mit.edu	37	2	46605830	46605830	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605830A>G	ENST00000263734.3	+	11	1988	c.1478A>G	c.(1477-1479)gAt>gGt	p.D493G		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1			39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)		ACATCTTTGGATAACGACCTG	0.517000																								0							SO:0001583	missense			ENST00000263734.3	1	1	hg19	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512374	0.27036	.	.	ENSG00000116016	ENST00000263734	T	0.52526	0.66	5.54	1.95	0.26073	.	0.700275	0.14954	N	0.288729	T	0.37461	0.1004	L	0.40543	1.245	0.43540	D	0.995834	B	0.09022	0.002	B	0.10450	0.005	T	0.21518	-1.0243	10	0.66056	D	0.02	.	8.9887	0.36010	0.7974:0.0:0.2026:0.0	.	493	Q99814	EPAS1_HUMAN	G	493	ENSP00000263734:D493G	ENSP00000263734:D493G	D	+	2	0	EPAS1	46459334	1.000000	0.71417	0.007000	0.13788	0.082000	0.17680	2.229000	0.42990	0.410000	0.25675	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	0	21	390	0	82	1	9.946839e-01	4	152	0	82	2		0	0	0	0	0	2	1	9.999973e-01	21	383	0	81	2								-19.998740	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.650000	0.420000	0.950000	0.660000	0.673426	0.650000	0	5.300000e-01	8.100000e-01
EPAS1	2034	broad.mit.edu	37	2	46607801	46607801	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46607801G>T	ENST00000263734.3	+	12	2500	c.1990G>T	c.(1990-1992)Gca>Tca	p.A664S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1			39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)		GTTCTTGGGAGCAGCGCCGTT	0.602000																								0							SO:0001583	missense			ENST00000263734.3	1	1	hg19	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	2.045	-0.419044	0.04766	.	.	ENSG00000116016	ENST00000263734	T	0.44881	0.91	4.69	-2.69	0.06022	.	0.753997	0.11622	N	0.545664	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32214	-0.9915	10	0.02654	T	1	.	5.9118	0.19033	0.478:0.2604:0.2616:0.0	.	664	Q99814	EPAS1_HUMAN	S	664	ENSP00000263734:A664S	ENSP00000263734:A664S	A	+	1	0	EPAS1	46461305	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	-0.243000	0.08915	-0.482000	0.06782	0.585000	0.79938	GCA		TCGA-IB-7651-01A-11D-2154-08	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1	128	706	0	144	1	1	34	215	0	144	2		0	0	0	0	0	2	1	1	127	694	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPAS1	2034	broad.mit.edu	37	2	46608739	46608739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46608739G>A	ENST00000263734.3	+	13	2560	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1			39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)		TGGCAGGTCTGCAAAGGGTTT	0.582000																								0							SO:0001583	missense			ENST00000263734.3	1	1	hg19	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396695	0.25205	.	.	ENSG00000116016	ENST00000263734	T	0.47869	0.83	5.19	4.31	0.51392	.	1.793810	0.02489	N	0.089240	T	0.27832	0.0685	N	0.08118	0	0.09310	N	0.999996	B	0.26258	0.145	B	0.21546	0.035	T	0.28933	-1.0028	10	0.22706	T	0.39	.	3.7445	0.08542	0.09:0.1778:0.5723:0.1599	.	684	Q99814	EPAS1_HUMAN	T	684	ENSP00000263734:A684T	ENSP00000263734:A684T	A	+	1	0	EPAS1	46462243	0.988000	0.35896	1.000000	0.80357	0.889000	0.51656	0.675000	0.25232	2.416000	0.81992	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1	85	249	0	58	1	1	53	232	0	58	2		0	0	0	0	0	2	1	1	81	243	0	56	2								-5.383052	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPAS1	2034	broad.mit.edu	37	2	46609140	46609140	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46609140A>G	ENST00000263734.3	+	14	2709	c.2199A>G	c.(2197-2199)tcA>tcG	p.S733S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1			39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)		GCAGCACCTCACATTTGATGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000263734.3	1	1	hg19	CCDS1825.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	1	0	1	58	179	0	49	1	1	77	262	0	49	2		0	0	0	0	0	2	1	1	58	175	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOCS5	9655	broad.mit.edu	37	2	46986474	46986474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46986474C>T	ENST00000306503.5	+	2	977	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5			22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)		AGAGAGAAGGCGGCTTAGTAT	0.408000																								0							SO:0001583	missense			ENST00000306503.5	1	1	hg19	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264813	0.40095	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.38401	1.14;1.14	5.43	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.66939	2.045	0.50467	D	0.999877	D	0.89917	1.0	D	0.81914	0.995	T	0.52351	-0.8587	10	0.72032	D	0.01	-11.791	7.3985	0.26950	0.4338:0.4875:0.0:0.0787	.	269	O75159	SOCS5_HUMAN	W	269	ENSP00000305133:R269W;ENSP00000378330:R269W	ENSP00000305133:R269W	R	+	1	2	SOCS5	46839978	0.995000	0.38212	0.795000	0.32087	0.936000	0.57629	3.253000	0.51469	0.824000	0.34613	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2	1	0	0	15	342	0	55	1	9.167685e-01	6	94	0	55	2		0	0	0	0	0	2	1	9.998504e-01	15	332	0	55	2								-4.193464	1	1	121412	1	26	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.540000	0.310000	0.840000	0.540000	0.563511	0.540000	0	4.200000e-01	6.900000e-01
SOCS5	9655	broad.mit.edu	37	2	46987060	46987060	+	Missense_Mutation	SNP	C	C	T	rs149307689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46987060C>T	ENST00000306503.5	+	2	1563	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	p.S464L(3)		22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)		GATCCCAGTTCGTGCATGTTT	0.438000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000306503.5	1	1	hg19	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781752	0.70222	2.27E-4	0.0	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32272	1.46;1.46	5.43	4.55	0.56014	SH2 motif (3);	0.055880	0.64402	D	0.000001	T	0.13072	0.0317	N	0.01352	-0.895	0.53005	D	0.999961	B	0.19583	0.037	B	0.12837	0.008	T	0.07252	-1.0782	10	0.41790	T	0.15	-20.7869	15.4335	0.75125	0.1399:0.8601:0.0:0.0	.	464	O75159	SOCS5_HUMAN	L	464	ENSP00000305133:S464L;ENSP00000378330:S464L	ENSP00000305133:S464L	S	+	2	0	SOCS5	46840564	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.651000	0.83577	1.514000	0.48869	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2	0	0	0	19	691	0	98	1	7.590796e-01	3	98	0	98	2		0	0	0	0	0	2	1	9.999880e-01	18	674	0	98	2								-2.792006	1	1	121412	2	38	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.340000	0.210000	0.510000	0.330000	0.356915	0.340000	0	2.700000e-01	4.300000e-01
TTC7A	57217	broad.mit.edu	37	2	47221507	47221507	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47221507G>T	ENST00000319190.5	+	7	1223	c.855G>T	c.(853-855)aaG>aaT	p.K285N	TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A			25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		TGGCGGCCAAGCACCTGGCGG	0.617000																								0							SO:0001583	missense			ENST00000319190.5	1	1	hg19	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275418	0.59649	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.32023	1.88;1.88;1.47	4.63	2.82	0.32997	.	0.346876	0.29205	N	0.012822	T	0.25082	0.0609	L	0.36672	1.1	0.80722	D	1	D;P;P;P;P	0.53619	0.961;0.57;0.835;0.651;0.696	B;B;B;B;B	0.43360	0.417;0.096;0.272;0.122;0.196	T	0.02975	-1.1087	10	0.72032	D	0.01	-23.2989	9.8632	0.41127	0.1717:0.0:0.8283:0.0	.	285;251;285;113;251	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	N	251;285;285;112	ENSP00000386307:K251N;ENSP00000316699:K285N;ENSP00000378320:K285N	ENSP00000316699:K285N	K	+	3	2	TTC7A	47075011	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.442000	0.35046	0.679000	0.31345	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	0	0	0	33	939	1	155	1	3.740313e-01	6	109	1	155	5		0	0	0	0	0	2	1	9.575492e-01	32	921	1	154	21								-3.607113	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.430000	0.300000	0.590000	0.430000	0.444094	0.430000	0	3.600000e-01	5.200000e-01
MSH2	4436	broad.mit.edu	37	2	47693796	47693796	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47693796G>T	ENST00000233146.2	+	10	1733		c.e10-1		MSH2_ENST00000543555.1_Splice_Site|MSH2_ENST00000406134.1_Splice_Site	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	p.0?(2)|p.?(2)		112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		TGATTATCAAGGCTTGGACCC	0.308000			D, Mis, N, F, S		colorectal, endometrial, ovarian	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)						SO:0001630	splice_region_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000233146.2	1	1	hg19	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982568	0.74474	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000413880	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH2	47547300	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.947000	0.93000	2.873000	0.98535	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3	1	0	1	64	371	0	76		0	0	0	0	76	2	1	1	23	175	0	113	2	1	1	64	365	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSH6	2956	broad.mit.edu	37	2	48018178	48018178	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48018178A>T	ENST00000234420.5	+	2	525	c.373A>T	c.(373-375)Aaa>Taa	p.K125*	MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	p.0?(2)		229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		CGAGAAAGGGAAATCAGTCCG	0.478000			Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)						SO:0001587	stop_gained	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000234420.5	0	1	hg19	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165162	0.94768	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	.	.	.	5.77	5.77	0.91146	.	0.170355	0.51477	D	0.000100	.	.	.	.	.	.	0.47009	D	0.999281	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9904	16.0985	0.81148	1.0:0.0:0.0:0.0	.	.	.	.	X	125;123;125;26;26;26	.	ENSP00000234420:K125X	K	+	1	0	MSH6	47871682	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	6.657000	0.74402	2.197000	0.70478	0.455000	0.32223	AAA		TCGA-IB-7651-01A-11D-2154-08	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	1	0	1	150	380	0	96	1	9.999899e-01	3	42	0	96	2	1	1	183	658	0	697	2	1	1	146	367	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSH6	2956	broad.mit.edu	37	2	48026622	48026622	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48026622A>C	ENST00000234420.5	+	4	1652	c.1500A>C	c.(1498-1500)gcA>gcC	p.A500A	MSH6_ENST00000538136.1_Silent_p.A198A|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	p.0?(2)		229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		GAAAGATGGCACATATATCCA	0.473000			Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)						SO:0001819	synonymous_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000234420.5	1	1	hg19	CCDS1836.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	1	0	1	57	197	0	38	1	9.999979e-01	6	65	0	38	2	1	1	173	479	0	563	2	1	1	57	194	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSH6	2956	broad.mit.edu	37	2	48030670	48030670	+	Missense_Mutation	SNP	G	G	A	rs63750253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48030670G>A	ENST00000234420.5	+	5	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	MSH6_ENST00000538136.1_Missense_Mutation_p.R793H|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	p.0?(2)|p.R1095H(2)		229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		AAAGGATCACGCCATCCTTGC	0.458000			Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	4	Substitution - Missense(2)|Whole gene deletion(2)	GRCh37	CM030237	MSH6	M	rs63750253	SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000234420.5	1	1	hg19	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804382	0.90623	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.87334	-2.24;-2.24;-2.24	5.38	5.38	0.77491	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.978	D	0.97321	0.9944	10	0.51188	T	0.08	-10.4918	19.1221	0.93367	0.0:0.0:1.0:0.0	rs63750253	965;1095	B4DF41;P52701	.;MSH6_HUMAN	H	1095;63;965;793	ENSP00000234420:R1095H;ENSP00000446475:R965H;ENSP00000438580:R793H	ENSP00000234420:R1095H	R	+	2	0	MSH6	47884174	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	9.835000	0.99442	2.528000	0.85240	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	1	0	1	82	285	0	73	1	1	11	93	0	73	2	1	1	443	1266	1	1456	7	1	1	81	282	0	72	2								-20.000000	1	1	121412	4	38	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSH6	2956	broad.mit.edu	37	2	48033396	48033396	+	Nonsense_Mutation	SNP	G	G	T	rs35717727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48033396G>T	ENST00000234420.5	+	8	3852	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	p.0?(2)		229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		AGTTGTTAAAGAACTTGCTGA	0.343000			Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)						SO:0001587	stop_gained	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000234420.5	0	1	hg19	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	47	13.267563	0.99731	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.5	5.5	0.81552	.	0.091222	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-22.6663	19.5916	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	1234;200;1104;932	.	ENSP00000234420:E1234X	E	+	1	0	MSH6	47886900	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.376000	0.97181	2.861000	0.98227	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	1	0	1	54	221	0	58	1	9.999967e-01	5	75	0	58	2	1	9.997668e-01	6	48	0	49	2	1	1	53	220	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO11	80204	broad.mit.edu	37	2	48037464	48037464	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48037464A>G	ENST00000403359.3	-	19	2401	c.2329T>C	c.(2329-2331)Ttt>Ctt	p.F777L	FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000405808.1_5'Flank|FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L|FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	p.0?(2)		26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		CCTGCGGCAAATCCATCAAAT	0.333000			Mis, F, D		DLBCL										Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)						SO:0001583	missense			ENST00000403359.3	1	1	hg19	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691405	0.48097	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	N	0.04245	-0.25	0.80722	D	1	B	0.29862	0.259	P	0.55871	0.786	T	0.76547	-0.2919	10	0.27785	T	0.31	-2.8193	16.8061	0.85666	1.0:0.0:0.0:0.0	.	201	B3KUR1	.	L	693;777;693;201	ENSP00000385398:F693L;ENSP00000384823:F777L;ENSP00000323822:F693L;ENSP00000397359:F201L	ENSP00000323822:F693L	F	-	1	0	FBXO11	47890968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.367000	0.80283	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	1	0	0	26	150	0	27	1	1	32	143	0	27	2		0	0	0	0	0	2	1	9.999999e-01	25	147	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999947	0.990000	1	9.900000e-01	1
STON1	11037	broad.mit.edu	37	2	48808368	48808368	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808368A>G	ENST00000406226.1	+	3	791	c.596A>G	c.(595-597)gAc>gGc	p.D199G	STON1_ENST00000404752.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1_ENST00000309835.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1			37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		TTCACCCTTGACCCACCAGGA	0.408000																								0							SO:0001583	missense			ENST00000406226.1	1	1	hg19	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	6.936	0.542363	0.13250	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.11277	2.8;2.8;2.8;2.8;2.79;2.8;2.8;2.96	4.42	4.42	0.53409	.	0.526218	0.20876	N	0.084092	T	0.18509	0.0444	L	0.53249	1.67	0.09310	N	1	D;P;D	0.76494	0.999;0.651;0.999	D;B;D	0.72338	0.977;0.115;0.913	T	0.36768	-0.9734	10	0.19147	T	0.46	.	1.4856	0.02446	0.5238:0.1531:0.0883:0.2347	.	199;199;199	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	G	199	ENSP00000385273:D199G;ENSP00000384615:D199G;ENSP00000310969:D199G;ENSP00000385499:D199G;ENSP00000385701:D199G;ENSP00000378236:D199G;ENSP00000311493:D199G;ENSP00000378234:D199G	ENSP00000310969:D199G	D	+	2	0	STON1-GTF2A1L;STON1	48661872	0.159000	0.22864	0.386000	0.26170	0.293000	0.27360	0.993000	0.29680	2.209000	0.71365	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	1	0	0	108	311	0	79	0	9.894239e-01	0	23	0	79	2		0	0	0	0	0	2	1	1	106	304	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STON1	11037	broad.mit.edu	37	2	48808780	48808780	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808780G>T	ENST00000406226.1	+	3	1203	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	STON1_ENST00000404752.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1_ENST00000309835.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1			37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		CCAAGGTTGAGAACTTCAGTG	0.368000																								0							SO:0001583	missense			ENST00000406226.1	1	1	hg19	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911921	0.52439	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.12039	2.75;2.75;2.75;2.73;2.72;2.73;2.73;2.91	5.45	3.66	0.41972	Stonin homology (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.63428	1.95	0.41356	D	0.987397	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.997;0.963;0.994	T	0.03000	-1.1084	10	0.72032	D	0.01	.	10.8338	0.46675	0.2089:0.0:0.7911:0.0	.	336;336;336	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	D	336	ENSP00000385273:E336D;ENSP00000384615:E336D;ENSP00000310969:E336D;ENSP00000385499:E336D;ENSP00000385701:E336D;ENSP00000378236:E336D;ENSP00000311493:E336D;ENSP00000378234:E336D	ENSP00000310969:E336D	E	+	3	2	STON1-GTF2A1L;STON1	48662284	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.632000	0.37102	0.870000	0.35726	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	1	0	0	117	558	0	157	0	9.525382e-01	1	25	0	157	2		0	0	0	0	0	2	1	1	116	554	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STON1	11037	broad.mit.edu	37	2	48809668	48809668	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48809668A>G	ENST00000406226.1	+	3	2091	c.1896A>G	c.(1894-1896)gtA>gtG	p.V632V	STON1_ENST00000404752.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1_ENST00000309835.3_Silent_p.V632V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1			37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		AGGCAGTGGTATGGAAGATAG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000406226.1	1	1	hg19	CCDS1841.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	1	0	0	56	226	0	45	0	9.842373e-01	0	29	0	45	2		0	0	0	0	0	2	1	1	56	220	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LHCGR	3973	broad.mit.edu	37	2	48921388	48921388	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48921388C>A	ENST00000294954.7	-	10	943	c.922G>T	c.(922-924)Gta>Tta	p.V308L	LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L|LHCGR_ENST00000405626.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor			56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTTCCTTACTGTGCTTTCA	0.338000																								0							SO:0001583	missense			ENST00000294954.7	0	1	hg19	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588934	0.28357	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000403273;ENST00000401907	T;T;T;T	0.79247	-0.87;-0.79;-1.25;-1.0	5.39	5.39	0.77823	.	0.699661	0.15057	N	0.282989	T	0.60117	0.2244	N	0.13235	0.315	0.27726	N	0.944958	B	0.06786	0.001	B	0.04013	0.001	T	0.46992	-0.9151	9	.	.	.	.	9.5701	0.39422	0.0:0.9001:0.0:0.0999	.	308	P22888	LSHR_HUMAN	L	246;308;308;308	ENSP00000344301:V246L;ENSP00000294954:V308L;ENSP00000385847:V308L;ENSP00000385406:V308L	.	V	-	1	0	LHCGR	48774892	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.451000	0.35145	2.521000	0.84997	0.563000	0.77884	GTA		TCGA-IB-7651-01A-11D-2154-08	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	1	0	1	7	69	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.814467e-01	7	68	0	20	2								-12.656270	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.550000	1.000000	1.000000	0.940675	0.990000	1	8.300000e-01	1
FSHR	2492	broad.mit.edu	37	2	49195960	49195960	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:49195960A>G	ENST00000406846.2	-	9	850	c.731T>C	c.(730-732)cTg>cCg	p.L244P	FSHR_ENST00000304421.4_Missense_Mutation_p.L218P|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor			73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CCTGGCCCTCAGCTTCTTAAG	0.438000									Gonadal Dysgenesis, 46 XX															0							SO:0001583	missense	Familial Cancer Database		ENST00000406846.2	0	1	hg19	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492369	0.84962	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	D;D	0.82711	-1.64;-1.64	5.45	5.45	0.79879	.	0.082955	0.50627	D	0.000101	D	0.93324	0.7872	H	0.94620	3.56	0.80722	D	1	D;D	0.76494	0.975;0.999	D;D	0.75484	0.916;0.986	D	0.94962	0.8109	9	.	.	.	.	14.8487	0.70281	1.0:0.0:0.0:0.0	.	218;244	Q05AH0;P23945	.;FSHR_HUMAN	P	244;218	ENSP00000384708:L244P;ENSP00000306780:L218P	.	L	-	2	0	FSHR	49049464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.288000	0.76882	0.533000	0.62120	CTG		TCGA-IB-7651-01A-11D-2154-08	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2	0	0	0	7	322	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	9.793609e-01	6	316	0	66	2								-7.713866	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.280000	0.120000	0.530000	0.270000	0.305465	0.280000	0	1.900000e-01	4.100000e-01
NRXN1	9378	broad.mit.edu	37	2	50149333	50149333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50149333G>A	ENST00000406316.2	-	22	5659	c.4183C>T	c.(4183-4185)Cgg>Tgg	p.R1395W	NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1465W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1			58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		CTGGACTCCCGGATCACTTCT	0.537000																								0							SO:0001583	missense			ENST00000406316.2	1	1	hg19	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.115777|4.115777	0.77323|0.77323	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.73789	.|0.74;1.97;-0.08;-0.09;-0.78;-0.67;-0.38;-0.23	5.95|5.95	5.04|5.04	0.67666|0.67666	.|.	.|0.000000	.|0.48286	.|U	.|0.000200	D|D	0.85230|0.85230	0.5649|0.5649	M|M	0.72118|0.72118	2.19|2.19	0.49483|0.49483	D|D	0.999792|0.999792	.|D;D;D;D;D;D	.|0.89917	.|0.995;1.0;0.999;0.999;0.999;0.999	.|P;D;D;D;D;D	.|0.78314	.|0.802;0.963;0.991;0.932;0.918;0.967	D|D	0.86372|0.86372	0.1724|0.1724	5|10	.|0.87932	.|D	.|0	.|.	16.6034|16.6034	0.84822|0.84822	0.0:0.0:0.8694:0.1306|0.0:0.0:0.8694:0.1306	.|.	.|60;1465;360;1395;1414;57	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	L|W	61|360;314;413;1465;1395;1417;1425;1466;1417;1395	.|ENSP00000341184:R360W;ENSP00000385580:R413W;ENSP00000385142:R1465W;ENSP00000384311:R1395W;ENSP00000434015:R1417W;ENSP00000385017:R1425W;ENSP00000385434:R1417W;ENSP00000385681:R1395W	.|ENSP00000341184:R360W	P|R	-|-	2|1	0|2	NRXN1|NRXN1	50002837|50002837	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.987000|0.987000	0.75469|0.75469	8.001000|8.001000	0.88508|0.88508	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CCG|CGG		TCGA-IB-7651-01A-11D-2154-08	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	1	45	243	0	36	0	6.843471e-02	0	3	0	36	2		0	0	0	0	0	2	1	1	45	241	0	36	2								-3.157003	1	1	121412	1	28	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRXN1	9378	broad.mit.edu	37	2	50724826	50724826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50724826G>A	ENST00000406316.2	-	14	4000	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000406859.3_Silent_p.L842L|NRXN1_ENST00000404971.1_Silent_p.L882L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000402717.3_Silent_p.L834L|NRXN1_ENST00000405472.3_Silent_p.L834L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1			58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		TGGAACTCCAGCCTAGTATGA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000406316.2	1	1	hg19	CCDS54360.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	1	53	265	0	62	0	2.891355e-02	0	2	0	62	2		0	0	0	0	0	2	1	1	53	258	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRXN1	9378	broad.mit.edu	37	2	51255063	51255063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255063C>T	ENST00000406316.2	-	2	1825	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000404971.1_Missense_Mutation_p.V117M|NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1			58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		CGGATGCGCACGCTGTGCCAG	0.667000																								0							SO:0001583	missense			ENST00000406316.2	1	1	hg19	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527919	0.85706	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.24547	U	0.037600	D	0.94823	0.8328	M	0.90483	3.12	0.49915	D	0.99983	D;D;D	0.89917	0.997;1.0;0.969	D;D;B	0.91635	0.964;0.999;0.379	D	0.95756	0.8796	10	0.72032	D	0.01	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	117;117;117	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	M	117	ENSP00000385142:V117M;ENSP00000384311:V117M;ENSP00000434015:V117M;ENSP00000385017:V117M;ENSP00000385434:V117M;ENSP00000385681:V117M;ENSP00000385310:V117M	ENSP00000385017:V117M	V	-	1	0	NRXN1	51108567	1.000000	0.71417	0.987000	0.45799	0.861000	0.49209	4.863000	0.62983	2.293000	0.77203	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	0	29	179	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	1	29	175	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999929	0.990000	1	9.900000e-01	1
NRXN1	9378	broad.mit.edu	37	2	51255298	51255298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255298G>A	ENST00000406316.2	-	2	1590	c.114C>T	c.(112-114)ggC>ggT	p.G38G	NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000406859.3_Silent_p.G38G|NRXN1_ENST00000404971.1_Silent_p.G38G|NRXN1_ENST00000401669.2_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G|NRXN1_ENST00000405472.3_Silent_p.G38G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1			58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		GCGTCCATTGGCCCTCGGCGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000406316.2	0	1	hg19	CCDS54360.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	1	0	0	23	32	0	8	0	0	0	1	0	8	2		0	0	0	0	0	2	1	9.999999e-01	21	32	0	8	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSME4	23198	broad.mit.edu	37	2	54117259	54117259	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54117259A>G	ENST00000404125.1	-	37	4333	c.4278T>C	c.(4276-4278)gcT>gcC	p.A1426A	PSME4_ENST00000421748.2_Silent_p.A570A|PSME4_ENST00000476586.1_5'Flank	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4			60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		TTGCTATACAAGCTCCCCAGT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000404125.1	1	1	hg19	CCDS33197.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1	150	475	0	151	1	1	45	62	0	151	2		0	0	0	0	0	2	1	1	147	472	0	148	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSME4	23198	broad.mit.edu	37	2	54127092	54127092	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54127092G>A	ENST00000404125.1	-	29	3403	c.3348C>T	c.(3346-3348)aaC>aaT	p.N1116N	PSME4_ENST00000421748.2_Silent_p.N260N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4			60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		GCAATATCTGGTTGATAGAGG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000404125.1	1	1	hg19	CCDS33197.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1	122	616	0	100	1	1	12	151	0	100	2		0	0	0	0	0	2	1	1	117	598	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSME4	23198	broad.mit.edu	37	2	54133798	54133798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54133798G>A	ENST00000404125.1	-	26	2935	c.2880C>T	c.(2878-2880)taC>taT	p.Y960Y	PSME4_ENST00000421748.2_Silent_p.Y104Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4			60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		GTATCTTTTTGTATTCACAAC	0.358000																								0							SO:0001819	synonymous_variant			ENST00000404125.1	1	1	hg19	CCDS33197.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	0	70	342	0	79	1	9.999978e-01	13	81	0	79	2		0	0	0	0	0	2	1	1	68	340	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSME4	23198	broad.mit.edu	37	2	54159848	54159848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54159848C>T	ENST00000404125.1	-	9	1062	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4			60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		AGATGTGATGCTGTTAAACAA	0.383000																								0							SO:0001583	missense			ENST00000404125.1	1	1	hg19	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113838	0.77210	.	.	ENSG00000068878	ENST00000404125	T	0.04809	3.55	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	M	0.66939	2.045	0.80722	D	1	P	0.35656	0.514	B	0.29176	0.099	T	0.16482	-1.0401	10	0.33141	T	0.24	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	336	Q14997	PSME4_HUMAN	N	336	ENSP00000384211:S336N	ENSP00000374643:S336N	S	-	2	0	PSME4	54013352	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.939000	0.70179	2.865000	0.98341	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1	99	337	0	92	1	1	36	55	0	92	2		0	0	0	0	0	2	1	1	98	325	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSPYL6	388951	broad.mit.edu	37	2	54483194	54483194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54483194G>A	ENST00000317802.7	-	1	215	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6			20					TACCTCTGTCGCCTTGCTCTT	0.622000																								0							SO:0001583	missense			ENST00000317802.7	0	1	hg19	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	G	9.139	1.013240	0.19277	5.12E-4	1.21E-4	ENSG00000178021	ENST00000317802	T	0.28454	1.61	1.1	-1.96	0.07525	.	.	.	.	.	T	0.21801	0.0525	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	B	0.40410	0.328	T	0.14587	-1.0467	9	0.87932	D	0	.	1.7299	0.02929	0.289:0.0:0.4038:0.3072	.	32	Q8N831	TSYL6_HUMAN	V	32	ENSP00000417919:A32V	ENSP00000417919:A32V	A	-	2	0	TSPYL6	54336698	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.741000	0.04855	-0.705000	0.05035	0.467000	0.42956	GCG		TCGA-IB-7651-01A-11D-2154-08	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	0	0	0	16	776	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	9.999241e-01	17	764	0	109	2								-2.881768	1	1	120892	25	48	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.260000	0.150000	0.400000	0.270000	0.272173	0.260000	0	2.000000e-01	3.400000e-01
SPTBN1	6711	broad.mit.edu	37	2	54753662	54753662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54753662C>T	ENST00000356805.4	+	2	388	c.107C>T	c.(106-108)tCt>tTt	p.S36F	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1			82			Lung(47;0.24)		GAGAACAGCTCTGCGCGGCTT	0.537000																								0							SO:0001583	missense			ENST00000356805.4	1	1	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394759	0.96009	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.27402	1.67;1.67	5.77	5.77	0.91146	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57522	-0.7797	10	0.87932	D	0	.	20.0007	0.97408	0.0:1.0:0.0:0.0	.	36	Q01082	SPTB2_HUMAN	F	36	ENSP00000349259:S36F;ENSP00000374630:S36F	ENSP00000349259:S36F	S	+	2	0	SPTBN1	54607166	1.000000	0.71417	0.963000	0.40424	0.964000	0.63967	7.794000	0.85869	2.726000	0.93360	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3	1	0	1	64	321	0	80	1	9.999998e-01	3	113	0	80	2		0	0	0	0	0	2	1	1	61	313	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTBN1	6711	broad.mit.edu	37	2	54856651	54856651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54856651G>A	ENST00000356805.4	+	14	2661	c.2380G>A	c.(2380-2382)Gcc>Acc	p.A794T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A781T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1			82			Lung(47;0.24)		GGAAGAGATCGCCAATTACAG	0.597000																								0							SO:0001583	missense			ENST00000356805.4	1	1	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987641	0.35036	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.53640	0.61;0.61	5.78	3.87	0.44632	.	0.312640	0.34088	N	0.004274	T	0.40645	0.1125	L	0.50333	1.59	0.33051	D	0.532808	B;B	0.28713	0.037;0.22	B;B	0.33568	0.103;0.166	T	0.47911	-0.9080	10	0.25751	T	0.34	.	7.98	0.30177	0.0894:0.0:0.7519:0.1587	.	781;794	Q01082-3;Q01082	.;SPTB2_HUMAN	T	794;781	ENSP00000349259:A794T;ENSP00000334156:A781T	ENSP00000334156:A781T	A	+	1	0	SPTBN1	54710155	0.927000	0.31430	1.000000	0.80357	0.661000	0.39034	1.759000	0.38420	0.670000	0.31165	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3	1	0	1	98	456	0	118	1	1	153	496	0	118	2		0	0	0	0	0	2	1	1	97	452	0	116	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTBN1	6711	broad.mit.edu	37	2	54874327	54874327	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54874327G>T	ENST00000356805.4	+	24	5207	c.4926G>T	c.(4924-4926)gaG>gaT	p.E1642D	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1629D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1			82			Lung(47;0.24)		AAGCTGTGGAGGACTATGCAG	0.557000																								0							SO:0001583	missense			ENST00000356805.4	1	1	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664028	0.47572	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.51574	0.7;0.7	5.93	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	L	0.43923	1.385	0.37954	D	0.932739	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.21381	-1.0247	10	0.40728	T	0.16	.	4.0883	0.09957	0.3414:0.0:0.4919:0.1666	.	1629;1642	Q01082-3;Q01082	.;SPTB2_HUMAN	D	1642;1629	ENSP00000349259:E1642D;ENSP00000334156:E1629D	ENSP00000334156:E1629D	E	+	3	2	SPTBN1	54727831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.723000	0.54955	0.850000	0.35239	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3	1	0	1	90	449	0	110	1	1	227	580	0	110	2		0	0	0	0	0	2	1	1	90	440	0	108	2								-2.978895	1	1	121412	1	35	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTN4	57142	broad.mit.edu	37	2	55252338	55252338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55252338C>T	ENST00000337526.6	-	3	3140	c.2897G>A	c.(2896-2898)aGc>aAc	p.S966N	RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000404909.1_Missense_Mutation_p.S760N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4			36					TTTAACTATGCTCTCTATCTC	0.403000																								0							SO:0001583	missense			ENST00000337526.6	1	1	hg19	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583026	0.13749	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.20738	2.05;2.05;2.06;2.05;2.05;2.07	5.7	4.81	0.61882	.	5.311810	0.00166	N	0.000000	T	0.28200	0.0696	M	0.64997	1.995	0.21355	N	0.999716	B	0.09022	0.002	B	0.09377	0.004	T	0.40627	-0.9553	10	0.22109	T	0.4	-0.0342	10.6257	0.45506	0.0:0.7981:0.1317:0.0702	.	966	Q9NQC3	RTN4_HUMAN	N	760;760;966;760;760;734	ENSP00000384471:S760N;ENSP00000349944:S760N;ENSP00000337838:S966N;ENSP00000378109:S760N;ENSP00000385650:S760N;ENSP00000346465:S734N	ENSP00000337838:S966N	S	-	2	0	RTN4	55105842	0.939000	0.31865	0.316000	0.25252	0.007000	0.05969	1.391000	0.34475	1.370000	0.46153	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1	1	0	0	41	458	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	41	445	0	96	2								-11.727550	1	1	121410	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.760000	1.000000	1.000000	0.964980	0.990000	1	9.000000e-01	1
RTN4	57142	broad.mit.edu	37	2	55253303	55253303	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55253303A>G	ENST00000337526.6	-	3	2175	c.1932T>C	c.(1930-1932)gtT>gtC	p.V644V	RTN4_ENST00000405240.1_Silent_p.V438V|RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Silent_p.V438V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4			36					TTTCATAATTAACTGAAGAAG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000337526.6	1	1	hg19	CCDS42684.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1	1	0	1	36	165	0	34	0	3.395151e-02	0	2	0	34	2		0	0	0	0	0	2	1	1	34	165	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC88A	55704	broad.mit.edu	37	2	55589552	55589552	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55589552C>T	ENST00000436346.1	-	7	1360	c.519G>A	c.(517-519)ctG>ctA	p.L173L	CCDC88A_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000413716.2_Silent_p.L173L|CCDC88A_ENST00000263630.8_Silent_p.L173L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A			69					CCATCCATTGCAGGTCAAACA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000436346.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	36	130	0	36	1	9.983093e-01	14	25	0	36	2		0	0	0	0	0	2	1	1	36	128	0	36	2								-19.999930	1	1	121396	1	23	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC104	0	broad.mit.edu	37	2	55756108	55756108	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55756108G>A	ENST00000349456.4	+	4	525	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q			Q96G28	CFA36_HUMAN		p.R126Q(1)		14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		CAAGCCATTCGAATAATTCAA	0.333000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000349456.4	1	1	hg19	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829275	0.71258	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.30714	2.22;1.52;2.24;2.29;1.52	6.17	5.3	0.74995	.	0.058328	0.64402	D	0.000002	T	0.28034	0.0691	L	0.34521	1.04	0.48236	D	0.999614	P;D	0.58620	0.874;0.983	B;B	0.44315	0.117;0.446	T	0.02070	-1.1219	10	0.33141	T	0.24	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	126;151	Q96G28;Q96G28-2	CC104_HUMAN;.	Q	151;126;126;126;126	ENSP00000342699:R151Q;ENSP00000385400:R126Q;ENSP00000295117:R126Q;ENSP00000385376:R126Q;ENSP00000385972:R126Q	ENSP00000342699:R151Q	R	+	2	0	CCDC104	55609612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.873000	0.63057	1.620000	0.50308	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2	1	0	0	17	211	0	50	1	9.999936e-01	17	252	0	50	2		0	0	0	0	0	2	1	9.999687e-01	17	209	0	50	2								-3.142622	1	1	121410	1	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.960000	0.580000	1.000000	1.000000	0.903333	0.960000	1	7.500000e-01	1
CCDC104	0	broad.mit.edu	37	2	55761032	55761032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55761032G>A	ENST00000349456.4	+	5	569	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N			Q96G28	CFA36_HUMAN				14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		CTGCTTAACCGATGGCTCTGA	0.358000																								0							SO:0001583	missense			ENST00000349456.4	1	1	hg19	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873600	0.72180	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.34859	2.03;1.35;2.03;2.12;1.34	6.16	6.16	0.99307	.	0.145792	0.64402	D	0.000009	T	0.23210	0.0561	N	0.12961	0.28	0.58432	D	0.999998	D;P	0.55172	0.97;0.535	B;B	0.37650	0.255;0.09	T	0.02860	-1.1101	10	0.26408	T	0.33	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	141;166	Q96G28;Q96G28-2	CC104_HUMAN;.	N	166;141;141;141;141	ENSP00000342699:D166N;ENSP00000385400:D141N;ENSP00000295117:D141N;ENSP00000385376:D141N;ENSP00000385972:D141N	ENSP00000342699:D166N	D	+	1	0	CCDC104	55614536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.667000	0.54547	2.937000	0.99478	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2	1	0	1	82	310	0	48	1	1	69	150	0	48	2		0	0	0	0	0	2	1	1	81	307	0	48	2								-3.529098	1	1	121412	3	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMEK2	57223	broad.mit.edu	37	2	55825881	55825881	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825881T>C	ENST00000345102.5	-	4	893	c.592A>G	c.(592-594)Att>Gtt	p.I198V	SMEK2_ENST00000272313.5_Missense_Mutation_p.I198V|SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)			16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		ATTCCTCTAATAATTTCATAC	0.383000																								0							SO:0001583	missense			ENST00000345102.5	1	1	hg19	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591840	0.28357	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.40225	1.04;1.04;1.04	5.74	4.56	0.56223	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.148187	0.64402	D	0.000010	T	0.24470	0.0593	N	0.16307	0.4	0.44789	D	0.997791	B;B;B;B	0.13594	0.0;0.004;0.001;0.008	B;B;B;B	0.20384	0.001;0.029;0.003;0.013	T	0.05835	-1.0861	10	0.06494	T	0.89	-7.5148	12.0855	0.53695	0.129:0.0:0.0:0.871	.	198;198;198;198	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	V	198	ENSP00000272313:I198V;ENSP00000385912:I198V;ENSP00000339769:I198V	ENSP00000272313:I198V	I	-	1	0	SMEK2	55679385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.134000	0.57990	0.953000	0.37825	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	1	0	1	97	229	0	56	1	1	28	113	0	56	2		0	0	0	0	0	2	1	1	95	225	0	55	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMEK2	57223	broad.mit.edu	37	2	55825941	55825941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825941G>A	ENST00000345102.5	-	4	833	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SMEK2_ENST00000272313.5_Silent_p.L178L|SMEK2_ENST00000407823.3_Silent_p.L178L	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)			16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		GCTTGGAACAGCTGCAATAGT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000345102.5	1	1	hg19	CCDS46289.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	1	0	1	58	303	0	72	1	1	48	85	0	72	2		0	0	0	0	0	2	1	1	59	297	0	71	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPT1	87178	broad.mit.edu	37	2	55871818	55871818	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55871818A>T	ENST00000447944.2	-	23	1946	c.1860T>A	c.(1858-1860)ttT>ttA	p.F620L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1			27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		CAGGTCCAACAAATTTTGCTC	0.333000																								0							SO:0001583	missense			ENST00000447944.2	1	1	hg19	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	6.372	0.436695	0.12104	.	.	ENSG00000138035	ENST00000447944	T	0.22134	1.97	5.97	3.64	0.41730	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	N	0.11427	0.14	0.53005	D	0.999963	B	0.14012	0.009	B	0.23716	0.048	T	0.07809	-1.0753	10	0.87932	D	0	-27.5943	8.8176	0.35004	0.7663:0.0:0.2337:0.0	.	620	Q8TCS8	PNPT1_HUMAN	L	620	ENSP00000400646:F620L	ENSP00000393953:F620L	F	-	3	2	PNPT1	55725322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.121000	0.50438	0.531000	0.28639	-0.250000	0.11733	TTT		TCGA-IB-7651-01A-11D-2154-08	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	1	0	1	56	318	0	51	1	9.999971e-01	18	90	0	51	2		0	0	0	0	0	2	1	1	53	311	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPT1	87178	broad.mit.edu	37	2	55874502	55874502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55874502G>A	ENST00000447944.2	-	19	1668	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1			27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		GTCAGCAAACGATAATCTTCT	0.313000																								0							SO:0001583	missense			ENST00000447944.2	1	1	hg19	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486391	0.63962	.	.	ENSG00000138035	ENST00000447944	T	0.44083	0.93	5.54	5.54	0.83059	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.55481	1.735	0.80722	D	1	P	0.44090	0.826	B	0.43701	0.428	T	0.50206	-0.8855	10	0.66056	D	0.02	-5.3929	19.831	0.96636	0.0:0.0:1.0:0.0	.	528	Q8TCS8	PNPT1_HUMAN	C	528	ENSP00000400646:R528C	ENSP00000386075:R528C	R	-	1	0	PNPT1	55728006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.755000	0.94549	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	1	0	1	79	478	0	72	1	9.999998e-01	30	103	0	72	2		0	0	0	0	0	2	1	1	79	468	0	71	2								-3.318884	1	0	121412	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFEMP1	2202	broad.mit.edu	37	2	56094228	56094228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094228C>T	ENST00000394555.2	-	11	1897	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1			28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		AATGGCCCCACTATTATTGTC	0.383000													GBM(92;934 1319 7714 28760 40110)											0							SO:0001583	missense			ENST00000394555.2	1	1	hg19	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408195	0.83340	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.88818	-2.43;-2.43;-1.95;-2.43	5.27	5.27	0.74061	.	0.000000	0.53938	D	0.000053	D	0.94241	0.8151	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.94553	0.7755	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	350;488	B4DW75;Q12805	.;FBLN3_HUMAN	M	488;488;344;350;488	ENSP00000378058:V488M;ENSP00000378057:V488M;ENSP00000399145:V350M;ENSP00000347596:V488M	ENSP00000347596:V488M	V	-	1	0	EFEMP1	55947732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.623000	0.88846	0.585000	0.79938	GTG		TCGA-IB-7651-01A-11D-2154-08	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	1	139	455	0	111	0	1	0	249	0	111	2		0	0	0	0	0	2	1	1	134	452	0	111	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFEMP1	2202	broad.mit.edu	37	2	56094325	56094325	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094325T>C	ENST00000394555.2	-	11	1800	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L	EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000424836.2_Silent_p.L317L|EFEMP1_ENST00000394554.1_Silent_p.L455L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1			28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		TTGGTCCTGATAATGACTTCA	0.403000													GBM(92;934 1319 7714 28760 40110)											0							SO:0001819	synonymous_variant			ENST00000394555.2	1	1	hg19	CCDS1857.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	1	93	275	0	57	0	1	0	343	0	57	2		0	0	0	0	0	2	1	1	91	273	0	57	2								-20.000000	1	0	121410	1	30	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFEMP1	2202	broad.mit.edu	37	2	56098049	56098049	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56098049G>A	ENST00000394555.2	-	10	1561	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	EFEMP1_ENST00000355426.3_Splice_Site_p.R376*|EFEMP1_ENST00000424836.2_Splice_Site_p.R238*|EFEMP1_ENST00000394554.1_Splice_Site_p.R376*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1			28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		CAAACACATCGGCTGCAGAGA	0.433000													GBM(92;934 1319 7714 28760 40110)											0							SO:0001630	splice_region_variant			ENST00000394555.2	0	0	hg19	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	38	6.821538	0.97865	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	376;376;232;238;376	.	ENSP00000347596:R376X	R	-	1	2	EFEMP1	55951553	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.939000	0.87685	2.824000	0.97209	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	1	99	241	0	63	0	1	0	440	0	63	2		0	0	0	0	0	2	1	1	100	234	0	60	2								-7.666535	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFEMP1	2202	broad.mit.edu	37	2	56144918	56144918	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144918G>A	ENST00000394555.2	-	4	834	c.399C>T	c.(397-399)ggC>ggT	p.G133G	EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000424836.2_Silent_p.G75G|EFEMP1_ENST00000394554.1_Silent_p.G133G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1			28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		AGTTATTTCGGCCAGTCTGCA	0.597000													GBM(92;934 1319 7714 28760 40110)											0							SO:0001819	synonymous_variant			ENST00000394555.2	1	1	hg19	CCDS1857.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	1	105	316	0	88	0	1	0	288	0	88	2		0	0	0	0	0	2	1	1	105	313	0	88	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFEMP1	2202	broad.mit.edu	37	2	56144958	56144958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144958G>A	ENST00000394555.2	-	4	794	c.359C>T	c.(358-360)gCc>gTc	p.A120V	EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1			28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		AGCAGCACTGGCCACAAAACC	0.597000													GBM(92;934 1319 7714 28760 40110)											0							SO:0001583	missense			ENST00000394555.2	1	1	hg19	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306055	0.81247	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	D;D;T;D;T	0.83755	-1.76;-1.76;-1.28;-1.76;-1.18	4.58	3.69	0.42338	.	0.000000	0.47852	D	0.000203	T	0.61085	0.2319	N	0.08118	0	0.24765	N	0.992903	B;B	0.18310	0.027;0.002	B;B	0.11329	0.006;0.003	T	0.44832	-0.9302	10	0.13470	T	0.59	.	6.5096	0.22214	0.0963:0.1837:0.72:0.0	.	62;120	B4DW75;Q12805	.;FBLN3_HUMAN	V	120;120;62;120;120	ENSP00000378058:A120V;ENSP00000378057:A120V;ENSP00000399145:A62V;ENSP00000347596:A120V;ENSP00000392055:A120V	ENSP00000347596:A120V	A	-	2	0	EFEMP1	55998462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.089000	0.41672	1.522000	0.49001	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2	1	0	1	81	376	0	71	0	1	1	285	0	71	2		0	0	0	0	0	2	1	1	79	369	0	70	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC85A	114800	broad.mit.edu	37	2	56420013	56420013	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420013G>T	ENST00000407595.2	+	2	1180	c.678G>T	c.(676-678)aaG>aaT	p.K226N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A			38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		ACCACCACAAGCACCACGCGA	0.687000																								0							SO:0001583	missense			ENST00000407595.2	1	1	hg19	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663758	0.47572	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	1.86	0.25419	.	0.250691	0.45867	D	0.000333	T	0.34571	0.0902	L	0.29908	0.895	0.80722	D	1	P	0.36027	0.533	B	0.34590	0.186	T	0.04976	-1.0914	9	0.22706	T	0.39	0.196	8.7085	0.34369	0.4288:0.0:0.5712:0.0	.	226	Q96PX6	CC85A_HUMAN	N	226	.	ENSP00000384040:K226N	K	+	3	2	CCDC85A	56273517	0.997000	0.39634	0.993000	0.49108	0.898000	0.52572	0.477000	0.22196	0.554000	0.29061	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	1	0	1	70	250	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	68	246	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC85A	114800	broad.mit.edu	37	2	56420234	56420234	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420234G>T	ENST00000407595.2	+	2	1401	c.899G>T	c.(898-900)aGc>aTc	p.S300I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A			38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		CATCCAGGGAGCAGCCCCGAA	0.637000																								0							SO:0001583	missense			ENST00000407595.2	1	1	hg19	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148388	0.37923	.	.	ENSG00000055813	ENST00000407595	T	0.47869	0.83	5.35	4.47	0.54385	.	0.425405	0.29053	N	0.013291	T	0.39009	0.1062	L	0.34521	1.04	0.80722	D	1	P	0.48162	0.906	B	0.41619	0.361	T	0.28902	-1.0029	10	0.49607	T	0.09	-47.9685	14.0689	0.64849	0.073:0.0:0.927:0.0	.	300	Q96PX6	CC85A_HUMAN	I	300	ENSP00000384040:S300I	ENSP00000384040:S300I	S	+	2	0	CCDC85A	56273738	1.000000	0.71417	0.993000	0.49108	0.642000	0.38348	5.460000	0.66691	1.260000	0.44134	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	1	0	0	42	617	0	115	0	1.238435e-02	0	3	0	115	2		0	0	0	0	0	2	1	1	41	613	0	114	2								-8.774224	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.810000	0.590000	1.000000	1.000000	0.820895	0.810000	0	6.900000e-01	9.400000e-01
CCDC85A	114800	broad.mit.edu	37	2	56420278	56420278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420278G>T	ENST00000407595.2	+	2	1445	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A			38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		TGGGAGCCCGGAACACTTCCA	0.642000																								0							SO:0001587	stop_gained			ENST00000407595.2	0	1	hg19	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	43	10.239125	0.99366	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.2501	19.0598	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	X	315	.	ENSP00000384040:E315X	E	+	1	0	CCDC85A	56273782	1.000000	0.71417	0.115000	0.21578	0.935000	0.57460	6.664000	0.74437	2.507000	0.84556	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	1	0	0	39	558	0	101	0	2.481733e-02	0	4	0	101	2		0	0	0	0	0	2	1	1	37	554	0	101	2								-8.630281	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.830000	0.600000	1.000000	1.000000	0.838693	0.830000	0	7.100000e-01	9.700000e-01
SOX11	6664	broad.mit.edu	37	2	5832882	5832882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832882C>T	ENST00000322002.3	+	1	84	c.29C>T	c.(28-30)gCg>gTg	p.A10V	AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				AGCTTGGAAGCGGAGAGCAAC	0.697000																								0							SO:0001583	missense			ENST00000322002.3	1	1	hg19	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	c	15.48	2.845208	0.51164	.	.	ENSG00000176887	ENST00000322002	D	0.97831	-4.56	3.18	2.15	0.27550	.	0.438607	0.17017	U	0.190244	D	0.90038	0.6889	N	0.08118	0	0.24184	N	0.995577	P	0.35155	0.487	B	0.24155	0.051	D	0.85314	0.1080	10	0.37606	T	0.19	.	6.8925	0.24236	0.0:0.629:0.2562:0.1147	.	10	P35716	SOX11_HUMAN	V	10	ENSP00000322568:A10V	ENSP00000322568:A10V	A	+	2	0	SOX11	5750333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.976000	0.40579	1.455000	0.47813	0.472000	0.43445	GCG		TCGA-IB-7651-01A-11D-2154-08	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	1	0	0	14	113	0	27	0	3.921943e-02	0	3	0	27	2		0	0	0	0	0	2	1	9.997639e-01	14	109	0	25	2								-8.129703	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.830000	1.000000	1.000000	0.989177	0.990000	1	9.900000e-01	1
SOX11	6664	broad.mit.edu	37	2	5832971	5832971	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832971G>T	ENST00000322002.3	+	1	173	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				GAGCGACCCAGACTGGTGCAA	0.632000																								0							SO:0001583	missense			ENST00000322002.3	0	1	hg19	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.515638	0.85389	.	.	ENSG00000176887	ENST00000322002	D	0.93811	-3.29	3.11	3.11	0.35812	High mobility group, superfamily (1);	0.000000	0.56097	U	0.000023	D	0.95351	0.8491	M	0.68593	2.085	0.53688	D	0.999976	D	0.64830	0.994	D	0.66351	0.943	D	0.95090	0.8221	10	0.49607	T	0.09	.	14.1887	0.65623	0.0:0.0:1.0:0.0	.	40	P35716	SOX11_HUMAN	Y	40	ENSP00000322568:D40Y	ENSP00000322568:D40Y	D	+	1	0	SOX11	5750422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.351000	0.73022	1.445000	0.47624	0.466000	0.42574	GAC		TCGA-IB-7651-01A-11D-2154-08	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	1	0	0	8	166	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	9.886013e-01	8	161	0	26	2								-11.329730	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.610000	0.290000	1.000000	1.000000	0.633788	0.610000	0	4.300000e-01	8.400000e-01
SOX11	6664	broad.mit.edu	37	2	5833253	5833253	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5833253G>A	ENST00000322002.3	+	1	455	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				CAAGCCCAGCGCCAGCCAGAG	0.706000																								0							SO:0001583	missense			ENST00000322002.3	1	1	hg19	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169174	0.57584	.	.	ENSG00000176887	ENST00000322002	D	0.97850	-4.57	2.82	2.82	0.32997	.	.	.	.	.	D	0.94159	0.8126	L	0.52011	1.625	0.39897	D	0.973855	B	0.25850	0.136	B	0.11329	0.006	D	0.90695	0.4616	9	0.13108	T	0.6	.	8.7744	0.34753	0.0:0.0:0.7743:0.2257	.	134	P35716	SOX11_HUMAN	T	134	ENSP00000322568:A134T	ENSP00000322568:A134T	A	+	1	0	SOX11	5750704	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	2.399000	0.44495	1.552000	0.49463	0.478000	0.44815	GCC		TCGA-IB-7651-01A-11D-2154-08	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	1	0	0	31	129	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	31	128	0	30	2								-20.000000	1	1	120550	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL11A	53335	broad.mit.edu	37	2	60688136	60688136	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688136C>T	ENST00000335712.6	-	4	2138	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	BCL11A_ENST00000538214.1_Silent_p.K603K|BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.K637K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)			59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		CCTTCTCGAGCTTGATGCGCT	0.687000			T	IGH@	B-CLL										Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0							SO:0001819	synonymous_variant			ENST00000335712.6	1	1	hg19	CCDS1862.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	1	0	0	74	261	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	74	253	0	45	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCL11A	53335	broad.mit.edu	37	2	60688595	60688595	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688595G>A	ENST00000335712.6	-	4	1679	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	BCL11A_ENST00000538214.1_Silent_p.D450D|BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.D484D	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)			59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		cttcctcctcgtccccgttct	0.632000			T	IGH@	B-CLL										Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0							SO:0001819	synonymous_variant			ENST00000335712.6	1	1	hg19	CCDS1862.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	1	0	1	34	98	0	22	0	6.965174e-02	0	2	0	22	2		0	0	0	0	0	2	1	1	34	98	0	21	2								-20.000000	1	1	121374	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REL	5966	broad.mit.edu	37	2	61145657	61145657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61145657G>A	ENST00000295025.8	+	7	1089	c.769G>A	c.(769-771)Gta>Ata	p.V257I	REL_ENST00000394479.3_Missense_Mutation_p.V257I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog			16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		CACAGAACCCGTAACAGTAAA	0.408000			A		Hodgkin Lymphoma										Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0							SO:0001583	missense			ENST00000295025.8	1	1	hg19	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575881	0.45902	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.54071	0.59;0.59	5.78	5.78	0.91487	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.055514	0.64402	D	0.000001	T	0.41373	0.1156	L	0.48935	1.535	0.48571	D	0.999678	P;P	0.34864	0.473;0.473	B;B	0.17722	0.019;0.019	T	0.34329	-0.9833	10	0.38643	T	0.18	-1.8014	12.7968	0.57564	0.1158:0.0:0.8842:0.0	.	257;257	Q17RU2;Q04864	.;REL_HUMAN	I	257	ENSP00000295025:V257I;ENSP00000377989:V257I	ENSP00000295025:V257I	V	+	1	0	REL	60999161	1.000000	0.71417	0.711000	0.30485	0.846000	0.48090	3.530000	0.53539	2.730000	0.93505	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	1	0	1	164	439	0	84	1	9.997941e-01	17	19	0	84	2		0	0	0	0	0	2	1	1	160	431	0	84	2								-20.000000	1	1	121412	2	40	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX13	5194	broad.mit.edu	37	2	61258998	61258998	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61258998T>A	ENST00000295030.5	+	2	575	c.537T>A	c.(535-537)ttT>ttA	p.F179L	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13			10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		CAAAAGTGTTTTCAGCTTTTG	0.413000																								0							SO:0001583	missense			ENST00000295030.5	0	1	hg19	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425331	0.25639	.	.	ENSG00000162928	ENST00000295030	T	0.70749	-0.51	5.85	3.48	0.39840	Peroxin 13, N-terminal (1);	0.050181	0.85682	D	0.000000	T	0.44008	0.1273	N	0.05383	-0.06	0.80722	D	1	B	0.18461	0.028	B	0.24701	0.055	T	0.32771	-0.9894	10	0.02654	T	1	-20.9736	8.4584	0.32912	0.0:0.21:0.0:0.79	.	179	Q92968	PEX13_HUMAN	L	179	ENSP00000295030:F179L	ENSP00000295030:F179L	F	+	3	2	PEX13	61112502	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.914000	0.28624	0.472000	0.27344	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	0	0	0	15	698	0	95	0	7.739810e-01	1	132	0	95	2		0	0	0	0	0	2	1	9.998582e-01	15	690	0	94	2								-11.477930	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.270000	0.150000	0.430000	0.270000	0.284337	0.270000	0	2.000000e-01	3.500000e-01
KIAA1841	84542	broad.mit.edu	37	2	61304140	61304140	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61304140A>G	ENST00000402291.1	+	6	758	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841			25			Epithelial(17;0.193)		GATATCAGAAATGAAGTACTT	0.383000																								0							SO:0001583	missense			ENST00000402291.1	1	1	hg19	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473755	0.84640	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	M	0.87900	2.915	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.61710	-0.7007	10	0.87932	D	0	-20.5762	16.013	0.80417	1.0:0.0:0.0:0.0	.	173;173;173	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	V	173	ENSP00000385579:M173V;ENSP00000295031:M173V;ENSP00000349154:M173V;ENSP00000416795:M173V	ENSP00000295031:M173V	M	+	1	0	KIAA1841	61157644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.183000	0.69458	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	1	0	1	91	458	0	94	1	9.232892e-01	10	14	0	94	2		0	0	0	0	0	2	1	1	91	451	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1841	84542	broad.mit.edu	37	2	61336419	61336419	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61336419T>C	ENST00000402291.1	+	16	1973	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P	KIAA1841_ENST00000356719.2_Missense_Mutation_p.S578P|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S578P	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841			25			Epithelial(17;0.193)		AGAAGAAGTATCCAAGAAACA	0.353000																								0							SO:0001583	missense			ENST00000402291.1	0	1	hg19	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573965	0.45902	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.5	-1.11	0.09840	.	0.235442	0.43919	D	0.000513	T	0.38612	0.1047	L	0.56769	1.78	0.36252	D	0.853974	P;P	0.42993	0.797;0.472	B;B	0.41135	0.348;0.132	T	0.41395	-0.9511	10	0.45353	T	0.12	-3.3521	7.2753	0.26281	0.2444:0.0:0.2038:0.5518	.	578;578	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	P	578	ENSP00000385579:S578P;ENSP00000295031:S578P;ENSP00000349154:S578P;ENSP00000416795:S578P	ENSP00000295031:S578P	S	+	1	0	KIAA1841	61189923	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.045000	0.41250	0.005000	0.14708	0.477000	0.44152	TCC		TCGA-IB-7651-01A-11D-2154-08	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	0	0	0	11	480	0	121	0	4.054156e-02	0	13	0	121	2		0	0	0	0	0	2	1	9.981272e-01	10	469	0	119	2								-2.902269	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.290000	0.150000	0.490000	0.280000	0.308643	0.290000	0	2.100000e-01	3.900000e-01
KIAA1841	84542	broad.mit.edu	37	2	61343134	61343134	+	Missense_Mutation	SNP	A	A	C	rs146888479	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61343134A>C	ENST00000402291.1	+	17	2006	c.1765A>C	c.(1765-1767)Aag>Cag	p.K589Q	KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q|KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841			25			Epithelial(17;0.193)		GAAGCCAAAGAAGTTCACTAG	0.383000																								0							SO:0001583	missense			ENST00000402291.1	1	1	hg19	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863708	0.71949	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.35	5.35	0.76521	.	0.166361	0.56097	D	0.000040	T	0.46946	0.1419	M	0.64997	1.995	0.50632	D	0.999884	D;P	0.54601	0.967;0.905	P;P	0.50490	0.642;0.462	T	0.46679	-0.9174	10	0.48119	T	0.1	-12.7431	15.3031	0.73969	1.0:0.0:0.0:0.0	.	589;589	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	Q	589	ENSP00000385579:K589Q;ENSP00000295031:K589Q;ENSP00000349154:K589Q;ENSP00000416795:K589Q	ENSP00000295031:K589Q	K	+	1	0	KIAA1841	61196638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.388000	0.73195	2.151000	0.67156	0.460000	0.39030	AAG		TCGA-IB-7651-01A-11D-2154-08	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	1	0	1	64	229	0	64	1	8.100531e-01	4	9	0	64	2		0	0	0	0	0	2	1	1	61	224	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1841	84542	broad.mit.edu	37	2	61344641	61344641	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61344641C>A	ENST00000402291.1	+	19	2146	c.1905C>A	c.(1903-1905)tcC>tcA	p.S635S	KIAA1841_ENST00000356719.2_Silent_p.S635S|KIAA1841_ENST00000295031.5_Silent_p.S635S|KIAA1841_ENST00000453873.1_Silent_p.S635S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841			25			Epithelial(17;0.193)		CCACAAGATCCTTGAGATTCA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000402291.1	1	1	hg19	CCDS46296.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	1	0	1	70	346	0	48	1	6.703817e-01	4	9	0	48	2		0	0	0	0	0	2	1	1	69	343	0	48	2								-2.799230	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP34	9736	broad.mit.edu	37	2	61575613	61575613	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61575613T>G	ENST00000398571.2	-	15	1753	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34			138			Epithelial(17;0.229)		CCTGCATGGATTCCTGTATTT	0.378000																								0							SO:0001583	missense			ENST00000398571.2	1	1	hg19	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293336	0.80914	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03889	3.77	6.07	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	L	0.36672	1.1	0.47094	D	0.99931	B	0.32918	0.39	B	0.32211	0.142	T	0.51849	-0.8653	10	0.22109	T	0.4	.	10.0399	0.42151	0.0:0.1917:0.0:0.8083	.	559	Q70CQ2	UBP34_HUMAN	D	407;407;559	ENSP00000381577:E559D	ENSP00000263989:E407D	E	-	3	2	USP34	61429117	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.796000	0.26986	0.548000	0.28955	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4	1	0	1	116	512	0	83	1	9.999959e-01	18	61	0	83	2		0	0	0	0	0	2	1	1	111	503	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPO1	7514	broad.mit.edu	37	2	61715367	61715367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61715367C>T	ENST00000401558.2	-	19	2973	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q|XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	p.R749Q(1)		39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		TTTTACAGTTCGCATACTTCT	0.363000			Mis		CLL									-'	Dom	yes		2	2p15	7514	exportin 1 (CRM1 homolog, yeast)		L	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000401558.2	1	1	hg19	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761877	0.96906	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.92970	3.365	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.65874	0.925;0.939	D	0.86494	0.1799	9	0.40728	T	0.16	-11.0536	19.6691	0.95903	0.0:1.0:0.0:0.0	.	396;749	B3KWD0;O14980	.;XPO1_HUMAN	Q	749	.	ENSP00000384863:R749Q	R	-	2	0	XPO1	61568871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.767000	0.85331	2.721000	0.93114	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	1	0	1	79	499	0	115	1	1	55	269	0	115	2		0	0	0	0	0	2	1	1	77	490	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM161A	84140	broad.mit.edu	37	2	62066556	62066556	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62066556C>A	ENST00000405894.3	-	3	1684	c.1583G>T	c.(1582-1584)aGa>aTa	p.R528I	FAM161A_ENST00000404929.1_Splice_Site_p.R528M	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A			25					ACTTACTTACCTTACGGCTTG	0.463000																								0							SO:0001630	splice_region_variant			ENST00000405894.3	1	0	hg19	CCDS42687.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.119840|4.119840	0.77323|0.77323	.|.	.|.	ENSG00000170264|ENSG00000170264	ENST00000405894|ENST00000404929	T|T	0.25912|0.26067	1.77|1.76	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58524|0.58524	0.2128|0.2128	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	T|T	0.60495|0.60495	-0.7252|-0.7252	9|9	.|.	.|.	.|.	.|.	19.6789|19.6789	0.95950|0.95950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	528|528	Q3B820|Q3B820-3	F161A_HUMAN|.	I|M	528|528	ENSP00000385893:R528I|ENSP00000385158:R528M	.|.	R|R	-|-	2|2	0|0	FAM161A|FAM161A	61920060|61920060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.227000|0.227000	0.25037|0.25037	6.295000|6.295000	0.72744|0.72744	2.736000|2.736000	0.93811|0.93811	0.643000|0.643000	0.83706|0.83706	AGA|AGG		TCGA-IB-7651-01A-11D-2154-08	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	1	0	1	64	290	0	56	0	8.377964e-01	0	17	0	56	2		0	0	0	0	0	2	1	1	59	274	0	50	2								-2.759859	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM161A	84140	broad.mit.edu	37	2	62067069	62067069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067069G>A	ENST00000405894.3	-	3	1171	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	FAM161A_ENST00000404929.1_Missense_Mutation_p.A357V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A			25					AATGGGTCTGGCTTTAAATCG	0.418000																								0							SO:0001583	missense			ENST00000405894.3	1	1	hg19	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	34	5.304321	0.95601	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	.	0.050451	0.85682	D	0.000000	T	0.70518	0.3233	M	0.85373	2.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74469	-0.3655	10	0.72032	D	0.01	-14.9161	19.3967	0.94610	0.0:0.0:1.0:0.0	.	357;357	Q3B820;Q3B820-3	F161A_HUMAN;.	V	357	ENSP00000385158:A357V;ENSP00000385893:A357V	ENSP00000385158:A357V	A	-	2	0	FAM161A	61920573	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.973000	0.93428	2.665000	0.90641	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	1	0	0	70	771	0	105	0	2.041351e-01	1	9	0	105	2		0	0	0	0	0	2	1	1	68	762	0	105	2								-16.668230	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.830000	1.000000	1.000000	0.979618	0.990000	1	9.400000e-01	1
FAM161A	84140	broad.mit.edu	37	2	62067278	62067278	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067278A>T	ENST00000405894.3	-	3	962	c.861T>A	c.(859-861)gtT>gtA	p.V287V	FAM161A_ENST00000404929.1_Silent_p.V287V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A			25					CAGATGCAGGAACTGGATTGG	0.403000																								0							SO:0001819	synonymous_variant			ENST00000405894.3	1	1	hg19	CCDS42687.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	1	0	1	155	792	0	139	1	8.410696e-01	5	14	0	139	2		0	0	0	0	0	2	1	1	153	766	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COMMD1	150684	broad.mit.edu	37	2	62132863	62132863	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62132863A>C	ENST00000311832.5	+	1	82	c.50A>C	c.(49-51)aAt>aCt	p.N17T	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1			9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		GGGCTGCTGAATGCGCTGGCC	0.692000																								0							SO:0001583	missense			ENST00000311832.5	1	1	hg19	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099746	0.20552	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.10573	2.86;2.86	5.6	-3.72	0.04411	.	0.441952	0.26927	N	0.021794	T	0.10723	0.0262	L	0.61218	1.895	0.24354	N	0.994901	B	0.25486	0.127	B	0.36418	0.224	T	0.29971	-0.9994	10	0.72032	D	0.01	.	2.5888	0.04837	0.4597:0.1174:0.3032:0.1197	.	17	Q8N668	COMD1_HUMAN	T	17	ENSP00000308236:N17T;ENSP00000438961:N17T	ENSP00000308236:N17T	N	+	2	0	COMMD1	61986367	0.923000	0.31300	0.114000	0.21550	0.008000	0.06430	-0.100000	0.10990	-0.831000	0.04256	-0.912000	0.02778	AAT		TCGA-IB-7651-01A-11D-2154-08	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	1	0	1	33	64	0	25	1	1	88	168	0	25	2		0	0	0	0	0	2	1	1	32	63	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B3GNT2	10678	broad.mit.edu	37	2	62449557	62449557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62449557C>T	ENST00000301998.4	+	2	454	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2			18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		GAAGCTGAACCGGCAGTACAA	0.512000																								0							SO:0001583	missense			ENST00000301998.4	1	1	hg19	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913331	0.17907	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.29655	1.56;1.56	5.75	1.85	0.25348	.	0.860794	0.10728	N	0.640914	T	0.33904	0.0879	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38607	-0.9653	10	0.66056	D	0.02	.	15.42	0.75003	0.462:0.538:0.0:0.0	.	68	Q9NY97	B3GN2_HUMAN	W	68	ENSP00000305595:R68W;ENSP00000384692:R68W	ENSP00000305595:R68W	R	+	1	2	B3GNT2	62303061	0.000000	0.05858	0.449000	0.26957	0.907000	0.53573	-0.074000	0.11450	0.431000	0.26258	-0.262000	0.10625	CGG		TCGA-IB-7651-01A-11D-2154-08	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	1	0	1	610	1672	1	395	1	1	53	95	1	395	3		0	0	0	0	0	2	1	1	604	1645	0	388	2								-17.228290	1	1	121412	4	41	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTX1	5013	broad.mit.edu	37	2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63281286C>T	ENST00000282549.2	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1			20	Lung NSC(7;0.121)|all_lung(7;0.211)				CATCTTCATGCGGGAGGAGGT	0.662000																								0							SO:0001583	missense			ENST00000282549.2	1	1	hg19	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791066	0.70452	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.97505	-4.41;-4.41	5.09	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98005	1.0362	10	0.87932	D	0	.	14.0454	0.64702	0.151:0.849:0.0:0.0	.	68	P32242	OTX1_HUMAN	W	68	ENSP00000355631:R68W;ENSP00000282549:R68W	ENSP00000282549:R68W	R	+	1	2	OTX1	63134790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.230000	0.42999	2.638000	0.89438	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	1	0	1	114	483	0	102	1	4.711229e-01	3	5	0	102	2		0	0	0	0	0	2	1	1	113	475	0	101	2								-3.299891	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTX1	5013	broad.mit.edu	37	2	63282778	63282778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63282778C>A	ENST00000282549.2	+	5	668	c.392C>A	c.(391-393)gCt>gAt	p.A131D	OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1			20	Lung NSC(7;0.121)|all_lung(7;0.211)				ACGCCGCCAGCTGTGTCCAGC	0.677000																								0							SO:0001583	missense			ENST00000282549.2	1	1	hg19	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838312	0.71373	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90676	-2.71;-2.71	3.69	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	L	0.54323	1.7	0.58432	D	0.999999	P	0.42757	0.789	B	0.42882	0.401	D	0.88174	0.2866	10	0.35671	T	0.21	.	14.6986	0.69139	0.0:1.0:0.0:0.0	.	131	P32242	OTX1_HUMAN	D	131	ENSP00000355631:A131D;ENSP00000282549:A131D	ENSP00000282549:A131D	A	+	2	0	OTX1	63136282	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	4.706000	0.61845	2.062000	0.61559	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	1	0	1	87	269	0	49	1	9.099770e-01	11	4	0	49	2		0	0	0	0	0	2	1	1	85	265	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTX1	5013	broad.mit.edu	37	2	63283061	63283061	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283061C>T	ENST00000282549.2	+	5	951	c.675C>T	c.(673-675)taC>taT	p.Y225Y	OTX1_ENST00000366671.3_Silent_p.Y225Y	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1			20	Lung NSC(7;0.121)|all_lung(7;0.211)				CCATGTCCTACGGCCAGGGCG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000282549.2	1	1	hg19	CCDS1873.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	1	0	1	105	337	0	74	0	2.433912e-01	1	3	0	74	2		0	0	0	0	0	2	1	1	102	334	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTX1	5013	broad.mit.edu	37	2	63283199	63283199	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283199C>A	ENST00000282549.2	+	5	1089	c.813C>A	c.(811-813)tcC>tcA	p.S271S	OTX1_ENST00000366671.3_Silent_p.S271S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1			20	Lung NSC(7;0.121)|all_lung(7;0.211)				CACCCTCCTCCATGGCGGGCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000282549.2	1	1	hg19	CCDS1873.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	1	0	1	255	791	0	155	1	9.108506e-01	4	11	0	155	2		0	0	0	0	0	2	1	1	245	760	0	150	2								-6.920111	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGP2	7360	broad.mit.edu	37	2	64109652	64109652	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64109652C>T	ENST00000337130.5	+	4	784	c.308C>T	c.(307-309)tCc>tTc	p.S103F	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Missense_Mutation_p.S112F	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2			18					AATATATCTTCCGTGTTGAAC	0.403000																								0							SO:0001583	missense			ENST00000337130.5	1	1	hg19	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337641	0.81911	.	.	ENSG00000169764	ENST00000394417;ENST00000482668;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.77	5.77	0.91146	.	0.270254	0.42682	D	0.000663	T	0.34424	0.0897	L	0.61036	1.89	0.80722	D	1	P;P	0.41710	0.76;0.64	P;P	0.45474	0.482;0.482	T	0.04579	-1.0941	10	0.72032	D	0.01	-6.8018	19.9915	0.97366	0.0:1.0:0.0:0.0	.	112;103	E7EUC7;Q16851	.;UGPA_HUMAN	F	92;92;92;103;92;95;112;92;92;92	ENSP00000377939:S92F;ENSP00000419548:S92F;ENSP00000420793:S92F;ENSP00000338703:S103F;ENSP00000419442:S92F;ENSP00000420131:S95F;ENSP00000411803:S112F;ENSP00000419335:S92F;ENSP00000420342:S92F;ENSP00000419238:S92F	ENSP00000338703:S103F	S	+	2	0	UGP2	63963156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.035000	0.49759	2.723000	0.93209	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	1	0	1	90	527	0	102	1	1	65	365	0	102	2		0	0	0	0	0	2	1	1	90	519	0	101	2								-3.075879	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFTPH	54812	broad.mit.edu	37	2	64779021	64779021	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779021T>G	ENST00000422803.1	+	2	727	c.413T>G	c.(412-414)gTg>gGg	p.V138G	AFTPH_ENST00000238856.4_Missense_Mutation_p.V138G|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G|AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G			Q6ULP2	AFTIN_HUMAN	aftiphilin			35					AATAAAGTAGTGGAGCAGAGA	0.358000																								0							SO:0001583	missense			ENST00000422803.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917286	0.02415	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.35	1.38	0.22167	.	1.620940	0.03161	N	0.169284	T	0.20659	0.0497	N	0.16478	0.41	0.09310	N	0.999995	B;B;P;P	0.42203	0.001;0.001;0.773;0.773	B;B;B;B	0.41894	0.001;0.002;0.369;0.369	T	0.11372	-1.0590	10	0.38643	T	0.18	6.6229	2.3047	0.04171	0.2423:0.0768:0.1397:0.5412	.	138;138;138;138	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	G	138	ENSP00000238856:V138G;ENSP00000397726:V138G;ENSP00000238855:V138G;ENSP00000387071:V138G	ENSP00000238855:V138G	V	+	2	0	AFTPH	64632525	0.906000	0.30813	0.039000	0.18376	0.810000	0.45777	0.543000	0.23237	0.422000	0.26005	0.482000	0.46254	GTG		TCGA-IB-7651-01A-11D-2154-08	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	57	306	0	72	1	1	33	105	0	72	2		0	0	0	0	0	2	1	1	56	303	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFTPH	54812	broad.mit.edu	37	2	64779607	64779607	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779607G>T	ENST00000422803.1	+	2	1313	c.999G>T	c.(997-999)aaG>aaT	p.K333N	AFTPH_ENST00000238856.4_Missense_Mutation_p.K333N|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N|AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N			Q6ULP2	AFTIN_HUMAN	aftiphilin			35					TTCAGTCAAAGGCTTGGAGTT	0.383000																								0							SO:0001583	missense			ENST00000422803.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457507	0.04508	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.47	3.55	0.40652	.	0.943333	0.08875	N	0.880981	T	0.14743	0.0356	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.26809	0.001;0.001;0.001;0.16	B;B;B;B	0.24701	0.001;0.001;0.001;0.055	T	0.31392	-0.9945	10	0.17832	T	0.49	1.9068	3.7104	0.08417	0.1505:0.0:0.5355:0.314	.	333;333;333;333	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	N	333	ENSP00000238856:K333N;ENSP00000397726:K333N;ENSP00000238855:K333N;ENSP00000387071:K333N	ENSP00000238855:K333N	K	+	3	2	AFTPH	64633111	0.986000	0.35501	0.317000	0.25265	0.965000	0.64279	1.792000	0.38754	1.405000	0.46838	0.585000	0.79938	AAG		TCGA-IB-7651-01A-11D-2154-08	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	72	487	0	103	1	9.999871e-01	19	90	0	103	2		0	0	0	0	0	2	1	1	71	477	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SERTAD2	9792	broad.mit.edu	37	2	64863365	64863365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863365C>A	ENST00000313349.3	-	2	938	c.641G>T	c.(640-642)aGc>aTc	p.S214I	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2			12					ATCTGCGCGGCTCTCTTGAGG	0.567000																								0							SO:0001583	missense			ENST00000313349.3	1	1	hg19	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883156	0.17467	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.63	5.63	0.86233	.	0.574803	0.20833	N	0.084854	T	0.46367	0.1389	L	0.27053	0.805	0.51482	D	0.999923	B	0.34103	0.437	B	0.23852	0.049	T	0.48917	-0.8992	9	0.56958	D	0.05	0.7719	19.6719	0.95915	0.0:1.0:0.0:0.0	.	214	Q14140	SRTD2_HUMAN	I	214	.	ENSP00000326933:S214I	S	-	2	0	SERTAD2	64716869	0.996000	0.38824	0.995000	0.50966	0.285000	0.27093	2.509000	0.45459	2.647000	0.89833	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	1	0	1	105	446	0	83	1	9.999920e-01	13	60	0	83	2		0	0	0	0	0	2	1	1	104	439	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERTAD2	9792	broad.mit.edu	37	2	64863673	64863673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863673C>T	ENST00000313349.3	-	2	630	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2			12					AGGACGGGGACGCCAGGTGGC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000313349.3	1	1	hg19	CCDS33210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	1	0	1	84	205	0	43	1	1	23	54	0	43	2		0	0	0	0	0	2	1	1	80	196	0	42	2								-20.000000	1	1	121364	3	30	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERTAD2	9792	broad.mit.edu	37	2	64863943	64863943	+	Silent	SNP	G	G	A	rs78389198	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863943G>A	ENST00000313349.3	-	2	360	c.63C>T	c.(61-63)atC>atT	p.I21I	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2			12					AGGGAGACACGATTTTGCCTT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000313349.3	1	0	hg19	CCDS33210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	1	0	0	132	588	0	105	1	9.997651e-01	8	48	0	105	2		0	0	0	0	0	2	1	1	131	578	0	104	2								-2.987520	1	0	121412	220	58	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC1A4	6509	broad.mit.edu	37	2	65243637	65243637	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65243637C>T	ENST00000234256.3	+	5	1107	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4			13				L-Alanine(DB00160)	AAGACATCATCGTGCTGGTGA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000234256.3	1	1	hg19	CCDS1879.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	1	0	0	66	663	0	107	0	9.975718e-01	1	90	0	107	2		0	0	0	0	0	2	1	1	65	655	0	104	2								-16.913270	1	1	121412	8	45	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.900000	1.000000	1.000000	0.993668	0.990000	1	9.900000e-01	1
CEP68	23177	broad.mit.edu	37	2	65296585	65296585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65296585C>T	ENST00000377990.2	+	2	210	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000546106.1_Silent_p.L3L|CEP68_ENST00000260569.4_Silent_p.L3L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa			32					CTCAATGGCCCTGGGTGAAGA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000377990.2	1	1	hg19	CCDS1880.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	1	0	1	86	561	0	143	1	9.771487e-01	3	38	0	143	2		0	0	0	0	0	2	1	1	85	550	0	143	2								-2.841674	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP68	23177	broad.mit.edu	37	2	65298745	65298745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65298745G>A	ENST00000377990.2	+	3	718	c.515G>A	c.(514-516)aGc>aAc	p.S172N	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|CEP68_ENST00000260569.4_Missense_Mutation_p.S172N	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa			32					CAGCCTCACAGCTCAGGTCTC	0.562000																								0							SO:0001583	missense			ENST00000377990.2	1	1	hg19	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467144	0.26335	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.13778	2.56;2.56;2.56	5.8	-3.97	0.04094	.	1.223130	0.05650	N	0.584966	T	0.05090	0.0136	N	0.08118	0	0.26175	N	0.979806	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.002;0.001;0.001;0.003	T	0.38286	-0.9668	10	0.23302	T	0.38	1.135	1.0509	0.01579	0.1817:0.2118:0.3139:0.2926	.	160;172;172;172;172	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	N	172;172;172;160	ENSP00000367229:S172N;ENSP00000438306:S172N;ENSP00000260569:S172N	ENSP00000260569:S172N	S	+	2	0	CEP68	65152249	0.000000	0.05858	0.037000	0.18230	0.657000	0.38888	-0.854000	0.04299	-0.389000	0.07786	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	1	0	1	95	267	0	91	1	9.999949e-01	12	41	0	91	2		0	0	0	0	0	2	1	1	94	262	0	89	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPRED2	200734	broad.mit.edu	37	2	65540683	65540683	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540683G>A	ENST00000356388.4	-	6	1398	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	SPRED2_ENST00000443619.2_Silent_p.C400C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2			34					ACATCACTCCGCAGTGGTAGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000356388.4	1	1	hg19	CCDS33211.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1	1	0	0	67	408	0	70	1	9.999777e-01	12	84	0	70	2		0	0	0	0	0	2	1	1	67	398	0	68	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPRED2	200734	broad.mit.edu	37	2	65540906	65540906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540906G>A	ENST00000356388.4	-	6	1175	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2			34					GGAGTCGGGCGCGTCCTGGCA	0.642000																								0							SO:0001583	missense			ENST00000356388.4	1	1	hg19	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139092	0.94560	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88075	0.2803	10	0.87932	D	0	-13.311	14.8468	0.70267	0.0687:0.0:0.9313:0.0	.	326;329	E9PEP0;Q7Z698	.;SPRE2_HUMAN	V	329;326;344;211	ENSP00000348753:A329V;ENSP00000393697:A326V;ENSP00000390595:A344V;ENSP00000407627:A211V	ENSP00000348753:A329V	A	-	2	0	SPRED2	65394410	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.869000	0.99810	1.444000	0.47605	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1	1	0	1	221	605	0	127	1	1	18	50	0	127	2		0	0	0	0	0	2	1	1	221	599	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ETAA1	54465	broad.mit.edu	37	2	67630386	67630386	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67630386T>G	ENST00000272342.5	+	5	702	c.572T>G	c.(571-573)cTt>cGt	p.L191R	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1			33					GAAGAAGAACTTATGAAACTG	0.264000																								0							SO:0001583	missense			ENST00000272342.5	1	1	hg19	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719812	0.68844	.	.	ENSG00000143971	ENST00000272342	T	0.35973	1.28	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.73962	2.25	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	T	0.65154	-0.6237	10	0.87932	D	0	-27.5494	15.9872	0.80168	0.0:0.0:0.0:1.0	.	191	Q9NY74	ETAA1_HUMAN	R	191	ENSP00000272342:L191R	ENSP00000272342:L191R	L	+	2	0	ETAA1	67483890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.783000	0.68982	2.367000	0.80283	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	1	0	1	34	189	0	31	1	9.911707e-01	11	33	0	31	2		0	0	0	0	0	2	1	1	34	189	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ETAA1	54465	broad.mit.edu	37	2	67631862	67631862	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67631862C>T	ENST00000272342.5	+	5	2178	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1			33					TTTGCTATATCTAAACAAGGA	0.353000																								0							SO:0001583	missense			ENST00000272342.5	1	1	hg19	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835227	0.71373	.	.	ENSG00000143971	ENST00000272342	T	0.26810	1.71	5.7	4.83	0.62350	.	0.550372	0.19256	N	0.118798	T	0.28300	0.0699	L	0.59436	1.845	0.25308	N	0.989222	B	0.27140	0.169	B	0.28553	0.091	T	0.23476	-1.0187	10	0.72032	D	0.01	-0.3088	11.9379	0.52884	0.0:0.9203:0.0:0.0797	.	683	Q9NY74	ETAA1_HUMAN	F	683	ENSP00000272342:S683F	ENSP00000272342:S683F	S	+	2	0	ETAA1	67485366	0.998000	0.40836	0.817000	0.32601	0.075000	0.17131	1.646000	0.37249	1.415000	0.47037	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	1	0	1	79	354	0	82	1	9.998230e-01	16	43	0	82	2		0	0	0	0	0	2	1	1	78	352	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C1D	10438	broad.mit.edu	37	2	68274319	68274319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68274319C>T	ENST00000355848.3	-	2	171	c.124G>A	c.(124-126)Gag>Aag	p.E42K	C1D_ENST00000470189.2_5'Flank|C1D_ENST00000407324.1_Missense_Mutation_p.E81K|C1D_ENST00000410067.3_Missense_Mutation_p.E42K|C1D_ENST00000409302.1_Missense_Mutation_p.E42K			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor			3					TGCAACAACTCATTTCTAGAA	0.328000																								0							SO:0001583	missense			ENST00000355848.3	1	1	hg19	CCDS1883.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066926	0.93898	.	.	ENSG00000197223	ENST00000355848;ENST00000407324;ENST00000410067;ENST00000409302	T;T;T;T	0.52754	0.68;0.65;0.68;0.68	5.29	5.29	0.74685	.	0.091917	0.85682	D	0.000000	T	0.59059	0.2166	M	0.80982	2.52	0.80722	D	1	P	0.43938	0.822	P	0.45276	0.475	T	0.61496	-0.7051	10	0.37606	T	0.19	-21.2335	19.2911	0.94100	0.0:1.0:0.0:0.0	.	42	Q13901	C1D_HUMAN	K	42;81;42;42	ENSP00000348107:E42K;ENSP00000384304:E81K;ENSP00000386468:E42K;ENSP00000386779:E42K	ENSP00000348107:E42K	E	-	1	0	C1D	68127823	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.129000	0.64739	2.651000	0.90000	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	1	0	1	41	263	0	66	1	1	66	180	0	66	2		0	0	0	0	0	2	1	1	41	258	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
WDR92	116143	broad.mit.edu	37	2	68361924	68361924	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68361924T>G	ENST00000295121.6	-	7	892	c.776A>C	c.(775-777)aAa>aCa	p.K259T	WDR92_ENST00000406245.2_Missense_Mutation_p.K158T|RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92			12					CACAGTAGATTTATGAGCCTA	0.473000																								0							SO:0001583	missense			ENST00000295121.6	1	1	hg19	CCDS1884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.25|17.25	3.341843|3.341843	0.61073|0.61073	.|.	.|.	ENSG00000243667|ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164|ENST00000457114	D;T;T|.	0.90563|.	-2.69;1.63;-0.13|.	5.65|5.65	5.65|5.65	0.86999|0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61986|0.61986	0.2391|0.2391	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	B|.	0.31931|.	0.347|.	B|.	0.31686|.	0.134|.	T|T	0.59532|0.59532	-0.7437|-0.7437	10|5	0.26408|.	T|.	0.33|.	.|.	14.4531|14.4531	0.67399|0.67399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259|.	Q96MX6|.	WDR92_HUMAN|.	T|H	259;158;259|63	ENSP00000295121:K259T;ENSP00000384518:K158T;ENSP00000386746:K259T|.	ENSP00000295121:K259T|.	K|N	-|-	2|1	0|0	WDR92|WDR92	68215428|68215428	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.909000|0.909000	0.53808|0.53808	8.040000|8.040000	0.89188|0.89188	2.155000|2.155000	0.67459|0.67459	0.533000|0.533000	0.62120|0.62120	AAA|AAT		TCGA-IB-7651-01A-11D-2154-08	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	1	0	1	62	292	0	53	1	9.898263e-01	11	25	0	53	2		0	0	0	0	0	2	1	1	57	282	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNO1	56902	broad.mit.edu	37	2	68385624	68385624	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68385624T>C	ENST00000263657.2	+	2	411	c.320T>C	c.(319-321)aTa>aCa	p.I107T	WDR92_ENST00000406245.2_5'Flank|WDR92_ENST00000295121.6_5'Flank|RP11-474G23.1_ENST00000406334.3_Intron|WDR92_ENST00000409164.1_5'Flank|WDR92_ENST00000492039.2_5'Flank	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)			4					GGACTTCAGATACGCTTTAAC	0.383000													NSCLC(83;642 1410 13044 32832 40058)											0							SO:0001583	missense			ENST00000263657.2	0	1	hg19	CCDS1885.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718664	0.89205	.	.	ENSG00000115946	ENST00000263657	T	0.46819	0.86	6.02	6.02	0.97574	.	0.045125	0.85682	D	0.000000	T	0.66896	0.2836	M	0.78344	2.41	0.80722	D	1	D	0.58620	0.983	P	0.58721	0.844	T	0.71351	-0.4619	10	0.87932	D	0	-13.3743	16.542	0.84395	0.0:0.0:0.0:1.0	.	107	Q9NRX1	PNO1_HUMAN	T	107	ENSP00000263657:I107T	ENSP00000263657:I107T	I	+	2	0	PNO1	68239128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.882000	0.87258	2.304000	0.77564	0.528000	0.53228	ATA		TCGA-IB-7651-01A-11D-2154-08	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	0	0	0	11	401	0	80	1	9.025293e-01	10	140	0	80	2		0	0	0	0	0	2	1	9.982915e-01	10	398	0	79	2								-11.081400	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.350000	0.180000	0.580000	0.330000	0.367073	0.350000	0	2.500000e-01	4.700000e-01
FBXO48	554251	broad.mit.edu	37	2	68691350	68691350	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68691350C>T	ENST00000377957.3	-	4	866	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48			4					CTTATCTTTCCAGTTCTGCTT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000377957.3	1	1	hg19	CCDS33213.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	1	0	0	78	910	0	210	0	3.973368e-01	0	17	0	210	2		0	0	0	0	0	2	1	1	75	900	0	210	2								-15.856210	1	1	121412	3	40	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.800000	1.000000	1.000000	0.963498	0.990000	1	9.000000e-01	1
APLF	200558	broad.mit.edu	37	2	68753207	68753207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68753207G>A	ENST00000303795.4	+	6	808	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor			25					TGTAATCCAGGGAAGTGGAAA	0.308000																								0							SO:0001583	missense			ENST00000303795.4	1	1	hg19	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	g	1.081	-0.666915	0.03428	.	.	ENSG00000169621	ENST00000303795	T	0.22743	1.94	4.29	-0.604	0.11626	.	1.283240	0.04864	N	0.444746	T	0.12902	0.0313	L	0.28274	0.84	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.001	T	0.29119	-1.0022	10	0.07030	T	0.85	.	7.258	0.26187	0.5238:0.0:0.4762:0.0	.	213;213	F8WET0;Q8IW19	.;APLF_HUMAN	R	213	ENSP00000307004:G213R	ENSP00000307004:G213R	G	+	1	0	APLF	68606711	0.010000	0.17322	0.050000	0.19076	0.897000	0.52465	0.484000	0.22308	-0.120000	0.11809	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	1	0	1	70	224	0	65	1	9.821088e-01	11	12	0	65	2		0	0	0	0	0	2	1	1	68	224	0	65	2								-4.381730	1	1	121412	1	25	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROKR1	10887	broad.mit.edu	37	2	68873141	68873141	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68873141T>C	ENST00000303786.3	+	2	608	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1			35					GCTGCCAAGATTGTCATTGGG	0.507000																								0							SO:0001583	missense			ENST00000303786.3	1	1	hg19	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495363	0.64186	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38240	1.15;1.15	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.67397	2.05	0.58432	D	0.999993	P	0.38250	0.624	B	0.40864	0.342	T	0.27971	-1.0058	10	0.36615	T	0.2	.	13.3807	0.60766	0.0:0.0:0.0:1.0	.	63	Q8TCW9	PKR1_HUMAN	T	63	ENSP00000303775:I63T;ENSP00000377874:I63T	ENSP00000303775:I63T	I	+	2	0	PROKR1	68726645	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.539000	0.67199	2.330000	0.79161	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2	1	0	1	223	608	0	129	0	7.237324e-02	1	1	0	129	2		0	0	0	0	0	2	1	1	221	598	0	129	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP25	9938	broad.mit.edu	37	2	69002461	69002461	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002461G>T	ENST00000295381.3	+	2	589	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25			52					AAGAAGCAGAGGTCCATCGTG	0.582000																								0							SO:0001583	missense			ENST00000295381.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.9	4.346716	0.82022	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048467	0.64402	D	0.000001	T	0.41949	0.1181	M	0.88450	2.955	0.44562	D	0.997521	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D	0.77004	0.989;0.97;0.983;0.983;0.983;0.963;0.989	T	0.41574	-0.9501	10	0.59425	D	0.04	.	11.5985	0.50988	0.0822:0.0:0.9178:0.0	.	57;31;57;50;50;50;57	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	M	31;57;57;57;50;50;50;50;50	ENSP00000439917:R31M;ENSP00000295381:R57M;ENSP00000386911:R57M;ENSP00000420583:R57M;ENSP00000386863:R50M;ENSP00000386241:R50M;ENSP00000417139:R50M	ENSP00000295381:R57M	R	+	2	0	ARHGAP25	68855965	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.672000	0.83956	2.613000	0.88420	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	271	732	0	214	0	9.999131e-01	0	39	0	214	2		0	0	0	0	0	2	1	1	269	719	0	211	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP25	9938	broad.mit.edu	37	2	69046363	69046363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69046363C>T	ENST00000295381.3	+	9	1528	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25			52					AAAAATGACCCCAAGAAAGCT	0.512000																								0							SO:0001583	missense			ENST00000295381.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.50|13.50	2.254697|2.254697	0.39896|0.39896	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T;T|T	0.18016|0.15487	2.7;2.7;2.43;2.7;2.7;2.61;2.24|2.42	5.12|5.12	3.29|3.29	0.37713|0.37713	.|.	0.757438|0.757438	0.13147|0.13147	N|N	0.410145|0.410145	T|T	0.07052|0.07052	0.0179|0.0179	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.28933|.	0.029;0.178;0.178;0.178;0.228;0.016|.	B;B;B;B;B;B|.	0.27796|.	0.01;0.036;0.058;0.058;0.083;0.003|.	T|T	0.16719|0.16719	-1.0393|-1.0393	10|8	0.11485|0.06365	T|T	0.65|0.9	.|.	6.1119|6.1119	0.20106|0.20106	0.3332:0.5798:0.0:0.0869|0.3332:0.5798:0.0:0.0869	.|.	331;371;364;363;364;370|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;RHG25_HUMAN|.	L|S	370;371;331;363;364;364;364;355;64|230	ENSP00000295381:P370L;ENSP00000386911:P371L;ENSP00000420583:P331L;ENSP00000386863:P363L;ENSP00000386241:P364L;ENSP00000417139:P364L;ENSP00000417467:P64L|ENSP00000417818:P230S	ENSP00000295381:P370L|ENSP00000417818:P230S	P|P	+|+	2|1	0|0	ARHGAP25|ARHGAP25	68899867|68899867	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	0.766000|0.766000	0.26560|0.26560	0.825000|0.825000	0.34637|0.34637	0.563000|0.563000	0.77884|0.77884	CCC|CCA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1	114	706	0	151	0	9.983488e-01	0	60	0	151	2		0	0	0	0	0	2	1	1	111	691	0	148	2								-3.075757	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFPT1	2673	broad.mit.edu	37	2	69553337	69553337	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69553337G>T	ENST00000357308.4	-	20	2262	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	GFPT1_ENST00000361060.5_Missense_Mutation_p.S677Y	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1			12					TACAGTCACAGATTTGGCAAG	0.333000																								0							SO:0001583	missense			ENST00000357308.4	1	1	hg19	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743510	0.89663	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.74315	-0.83;-0.83	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.92867	0.7731	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95518	0.8592	10	0.87932	D	0	-17.7389	18.5783	0.91163	0.0:0.0:1.0:0.0	.	677	Q06210-2	.	Y	695;677	ENSP00000349860:S695Y;ENSP00000354347:S677Y	ENSP00000349860:S695Y	S	-	2	0	GFPT1	69406841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.596000	0.98267	2.854000	0.98071	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	32	102	0	35	1	1	162	271	0	35	2		0	0	0	0	0	2	1	1	32	95	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNRNP27	11017	broad.mit.edu	37	2	70123668	70123668	+	Missense_Mutation	SNP	C	C	T	rs142136097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70123668C>T	ENST00000244227.3	+	3	681	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)			11					gaGCAAAGAACGGCAGATTAC	0.328000																								0							SO:0001583	missense			ENST00000244227.3	0	1	hg19	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696442	0.48202	0.002046	0.0	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.31247	1.5;1.5	5.28	5.28	0.74379	Domain of unknown function DUF1777 (1);	0.162035	0.56097	D	0.000034	T	0.50171	0.1600	L	0.55990	1.75	0.49915	D	0.999831	D;D	0.89917	1.0;0.997	D;P	0.79784	0.993;0.898	T	0.46624	-0.9178	10	0.66056	D	0.02	.	14.285	0.66240	0.0:1.0:0.0:0.0	.	86;86	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	W	86	ENSP00000244227:R86W;ENSP00000386608:R86W	ENSP00000244227:R86W	R	+	1	2	SNRNP27	69977172	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.920000	0.40025	2.750000	0.94351	0.585000	0.79938	CGG		TCGA-IB-7651-01A-11D-2154-08	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	0	0	1	29	151	0	20	1	1	97	455	0	20	2		0	0	0	0	0	2	1	1	28	151	0	20	2								-20.000000	1	1	121262	16	40	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
MXD1	4084	broad.mit.edu	37	2	70165302	70165302	+	Silent	SNP	C	C	T	rs148753961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70165302C>T	ENST00000264444.2	+	6	812	c.552C>T	c.(550-552)agC>agT	p.S184S	MXD1_ENST00000465446.1_3'UTR|MXD1_ENST00000540449.1_Silent_p.S174S	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1			7					GCAGTGTGAGCGACTCTGACG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000264444.2	1	1	hg19	CCDS1896.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	1	0	1	111	303	0	87	1	9.999882e-01	11	37	0	87	2		0	0	0	0	0	2	1	1	110	295	0	87	2								-6.758828	1	1	121412	4	41	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPRV1	151516	broad.mit.edu	37	2	70188262	70188262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70188262C>T	ENST00000320256.4	-	1	1135	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1			14					TTGGCAAAGACGATCTCTTTG	0.602000																								0							SO:0001583	missense			ENST00000320256.4	1	1	hg19	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	9.858	1.195561	0.22037	2.27E-4	1.16E-4	ENSG00000244617	ENST00000320256	T	0.49139	0.79	5.35	-1.79	0.07932	.	0.374473	0.18098	N	0.151771	T	0.26340	0.0643	L	0.27053	0.805	0.21782	N	0.999542	P	0.38504	0.634	B	0.25884	0.064	T	0.08534	-1.0717	10	0.36615	T	0.2	-15.2616	13.0216	0.58791	0.1264:0.2544:0.6192:0.0	.	187	Q53RT3	APRV1_HUMAN	I	187	ENSP00000315383:V187I	ENSP00000315383:V187I	V	-	1	0	ASPRV1	70041766	0.044000	0.20184	0.980000	0.43619	0.998000	0.95712	-1.908000	0.01587	-0.321000	0.08627	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	1	0	1	72	365	0	71	1	3.935539e-01	5	3	0	71	2		0	0	0	0	0	2	1	1	72	360	0	70	2								-20.000000	1	1	121412	33	46	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RSAD2	91543	broad.mit.edu	37	2	7027154	7027154	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7027154C>T	ENST00000382040.3	+	3	733	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RSAD2_ENST00000541728.1_Silent_p.N92N	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2			20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GAAAGAAGAACCATGTGGAAA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000382040.3	1	1	hg19	CCDS1656.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	1	0	1	69	264	0	71	1	1	29	167	0	71	2		0	0	0	0	0	2	1	1	69	260	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCBP1	5093	broad.mit.edu	37	2	70315123	70315123	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315123T>G	ENST00000303577.5	+	1	539	c.248T>G	c.(247-249)aTc>aGc	p.I83S	PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1			12					GAGGAAGATATCAACAGCTCC	0.592000													Colon(85;1146 1307 3484 18706 25380)											0							SO:0001583	missense			ENST00000303577.5	1	1	hg19	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251377	0.59212	.	.	ENSG00000169564	ENST00000303577	T	0.41065	1.01	4.16	3.01	0.34805	.	0.000000	0.85682	U	0.000000	T	0.30885	0.0779	L	0.37466	1.105	0.58432	D	0.999999	B	0.21071	0.051	B	0.30179	0.112	T	0.05599	-1.0875	10	0.19590	T	0.45	.	8.1495	0.31132	0.0:0.098:0.0:0.902	.	83	Q15365	PCBP1_HUMAN	S	83	ENSP00000305556:I83S	ENSP00000305556:I83S	I	+	2	0	PCBP1	70168627	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.890000	0.69774	0.954000	0.37851	-0.361000	0.07541	ATC		TCGA-IB-7651-01A-11D-2154-08	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	0	0	1	254	765	0	132	1	1	655	955	0	132	2		0	0	0	0	0	2	1	1	250	752	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCBP1	5093	broad.mit.edu	37	2	70315305	70315305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315305C>T	ENST00000303577.5	+	1	721	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1			12					CTCCACCGAGCGGGCCATCAC	0.622000													Colon(85;1146 1307 3484 18706 25380)											0							SO:0001583	missense			ENST00000303577.5	1	1	hg19	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025764	0.35701	.	.	ENSG00000169564	ENST00000303577	T	0.36340	1.26	4.03	2.21	0.28008	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.49133	0.1539	M	0.91717	3.235	0.80722	D	1	P	0.40000	0.698	P	0.44394	0.448	T	0.54153	-0.8336	10	0.87932	D	0	.	7.5355	0.27708	0.0:0.7348:0.1689:0.0963	.	144	Q15365	PCBP1_HUMAN	W	144	ENSP00000305556:R144W	ENSP00000305556:R144W	R	+	1	2	PCBP1	70168809	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.719000	0.25881	0.660000	0.30964	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	1	0	1	111	308	0	61	1	1	1103	1709	0	61	2		0	0	0	0	0	2	1	1	110	302	0	59	2								-6.251872	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCBP1	5093	broad.mit.edu	37	2	70315942	70315942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315942G>T	ENST00000303577.5	+	1	1358	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1			12					ATGGGGTGCAGCTAGAACAGT	0.463000													Colon(85;1146 1307 3484 18706 25380)											0							SO:0001583	missense			ENST00000303577.5	1	1	hg19	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334018	0.60853	.	.	ENSG00000169564	ENST00000303577	T	0.30182	1.54	3.88	3.88	0.44766	.	0.053625	0.64402	D	0.000001	T	0.42988	0.1227	L	0.57536	1.79	0.40620	D	0.981757	P	0.49862	0.929	P	0.53313	0.723	T	0.48151	-0.9060	10	0.87932	D	0	.	14.1379	0.65300	0.0:0.0:1.0:0.0	.	356	Q15365	PCBP1_HUMAN	I	356	ENSP00000305556:S356I	ENSP00000305556:S356I	S	+	2	0	PCBP1	70169446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.917000	0.48821	2.464000	0.83262	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	1	0	1	36	117	0	40	1	1	930	1222	0	40	2		0	0	0	0	0	2	1	1	36	115	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCYOX1	51449	broad.mit.edu	37	2	70502729	70502729	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70502729G>T	ENST00000433351.2	+	5	818	c.790G>T	c.(790-792)Gca>Tca	p.A264S	PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S|PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S|PCYOX1_ENST00000264441.5_Missense_Mutation_p.A264S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1			15					GCTTCTGCAGGCATCCAAAAG	0.438000																								0							SO:0001583	missense			ENST00000433351.2	1	1	hg19	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506898	0.26949	.	.	ENSG00000116005	ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000545138	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.3	2.28	0.28536	Prenylcysteine lyase (1);	0.195793	0.53938	D	0.000050	T	0.08537	0.0212	L	0.34521	1.04	0.33521	D	0.592328	B;B	0.25667	0.037;0.131	B;B	0.25405	0.06;0.038	T	0.24368	-1.0162	10	0.07644	T	0.81	-9.6889	9.1513	0.36965	0.0775:0.0:0.6513:0.2712	.	246;264	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	S	187;187;264;264;186	ENSP00000441566:A187S;ENSP00000413178:A187S;ENSP00000387654:A264S;ENSP00000264441:A264S;ENSP00000439916:A186S	ENSP00000264441:A264S	A	+	1	0	PCYOX1	70356233	1.000000	0.71417	0.704000	0.30370	0.914000	0.54420	2.088000	0.41663	0.803000	0.34113	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	1	0	1	108	240	0	60	1	1	106	192	0	60	2		0	0	0	0	0	2	1	1	105	235	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADD2	119	broad.mit.edu	37	2	70901918	70901918	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70901918T>C	ENST00000264436.4	-	14	2077	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	ADD2_ENST00000407644.2_Missense_Mutation_p.T545A|ADD2_ENST00000355733.3_Missense_Mutation_p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)			36					TCGTCTTTGGTATCCTCGTCT	0.547000																								0							SO:0001583	missense			ENST00000264436.4	1	1	hg19	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	7.622	0.677089	0.14841	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596	T;T;T;T	0.21543	3.47;3.47;3.32;2.0	5.73	4.57	0.56435	.	0.306452	0.35585	N	0.003104	T	0.14874	0.0359	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.07986	-1.0744	10	0.18710	T	0.47	-21.5161	9.9387	0.41567	0.0:0.0805:0.0:0.9195	.	545;545;545;545	P35612-4;Q05DK5;P35612;P35612-3	.;.;ADDB_HUMAN;.	A	545;545;297;545;239;545;239	ENSP00000264436:T545A;ENSP00000384677:T545A;ENSP00000347972:T545A;ENSP00000430243:T239A	ENSP00000264436:T545A	T	-	1	0	ADD2	70755426	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	0.699000	0.25586	1.000000	0.39049	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	1	154	423	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	150	413	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADD2	119	broad.mit.edu	37	2	70904002	70904002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70904002G>A	ENST00000264436.4	-	13	1963	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*|ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)			36					ACATCTTGTCGGTTTTGTTCT	0.612000																								0							SO:0001587	stop_gained			ENST00000264436.4	0	1	hg19	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	43	9.987657	0.99312	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.2811	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;507;201;507;201;507;523	.	ENSP00000264436:R507X	R	-	1	2	ADD2	70757510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	1	88	368	0	66	0	9.923236e-02	0	3	0	66	2		0	0	0	0	0	2	1	1	86	357	0	64	2								-3.043158	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADD2	119	broad.mit.edu	37	2	70918003	70918003	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70918003T>C	ENST00000264436.4	-	8	1208	c.764A>G	c.(763-765)gAc>gGc	p.D255G	ADD2_ENST00000407644.2_Missense_Mutation_p.D255G|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G|ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)			36					ATAGGCCATGTCCCCCACCAG	0.562000																								0							SO:0001583	missense			ENST00000264436.4	1	1	hg19	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798004	0.90538	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.43	5.43	0.79202	Class II aldolase/adducin, N-terminal (3);	0.099608	0.64402	D	0.000002	T	0.44705	0.1306	L	0.56280	1.765	0.58432	D	0.999995	D;B;B;D	0.60575	0.988;0.313;0.363;0.969	D;B;B;P	0.66979	0.948;0.087;0.217;0.69	T	0.38351	-0.9665	10	0.87932	D	0	-37.6637	13.4827	0.61345	0.0:0.0:0.0:1.0	.	271;255;255;255	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	G	255;255;255;255;255;255;271	ENSP00000264436:D255G;ENSP00000384677:D255G;ENSP00000347972:D255G;ENSP00000388072:D255G;ENSP00000398112:D271G	ENSP00000264436:D255G	D	-	2	0	ADD2	70771511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.879000	0.63100	2.277000	0.76020	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	1	37	318	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	1	36	311	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.960000	1.000000	1.000000	0.997505	0.990000	1	9.900000e-01	1
ADD2	119	broad.mit.edu	37	2	70933384	70933384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933384G>A	ENST00000264436.4	-	3	601	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ADD2_ENST00000407644.2_Missense_Mutation_p.R53C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C|ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000413157.2_Missense_Mutation_p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)			36					ATGGTGACGCGCTTCTTCTGC	0.642000																								0							SO:0001583	missense			ENST00000264436.4	1	1	hg19	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389532	0.82902	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.89	2.93	0.34026	.	0.148312	0.41605	D	0.000847	T	0.58004	0.2092	M	0.88105	2.93	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.991;0.999;0.974;0.999;0.999;0.975	T	0.65393	-0.6179	10	0.87932	D	0	-16.7794	10.5275	0.44957	0.0:0.0:0.5433:0.4567	.	69;53;53;53;53;53	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	53;53;53;53;53;53;53;53;53;69;53;53	ENSP00000264436:R53C;ENSP00000384677:R53C;ENSP00000347972:R53C;ENSP00000430243:R53C;ENSP00000388072:R53C;ENSP00000398112:R69C;ENSP00000412357:R53C;ENSP00000412681:R53C	ENSP00000264436:R53C	R	-	1	0	ADD2	70786892	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.883000	0.39658	1.385000	0.46445	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	0	16	353	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	9.999315e-01	16	348	0	53	2								-16.319960	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.560000	0.330000	0.850000	0.540000	0.579496	0.560000	0	4.300000e-01	7.100000e-01
ADD2	119	broad.mit.edu	37	2	70933444	70933444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933444G>A	ENST00000264436.4	-	3	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C|ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)			36					TTGCGAAGGCGCATGTACTCG	0.647000																								0							SO:0001583	missense			ENST00000264436.4	1	1	hg19	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706310	0.68615	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000264439;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.89	3.05	0.35203	.	0.070702	0.56097	D	0.000029	T	0.54382	0.1855	M	0.82630	2.6	0.45150	D	0.998168	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.996	D;D;P;D;P;P	0.65684	0.937;0.928;0.854;0.937;0.902;0.653	T	0.60490	-0.7253	10	0.87932	D	0	-10.9604	12.008	0.53270	0.0:0.0:0.6865:0.3135	.	49;33;33;33;33;33	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	C	33;33;33;33;33;33;33;33;33;49;33;33	ENSP00000264436:R33C;ENSP00000384677:R33C;ENSP00000347972:R33C;ENSP00000430243:R33C;ENSP00000388072:R33C;ENSP00000398112:R49C;ENSP00000412357:R33C;ENSP00000412681:R33C	ENSP00000264436:R33C	R	-	1	0	ADD2	70786952	1.000000	0.71417	0.918000	0.36340	0.548000	0.35241	4.820000	0.62671	0.735000	0.32537	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	1	0	1	140	347	1	71	0	0	0	1	1	71	2		0	0	0	0	0	2	1	1	139	344	1	69	22								-8.646893	1	0	121408	1	26	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC4F	165530	broad.mit.edu	37	2	71043855	71043855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71043855C>A	ENST00000272367.2	-	4	734	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.E220*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F			37					TTTGCATTTTCTAAGCCTCTG	0.413000													Colon(107;10 2157 6841 26035)											0							SO:0001587	stop_gained			ENST00000272367.2	0	1	hg19	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322102	0.41096	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	.	.	.	2.42	1.52	0.23074	.	0.343745	0.21127	N	0.079714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.3439	0.15998	0.0:0.8318:0.0:0.1682	.	.	.	.	X	220	.	ENSP00000272367:E220X	E	-	1	0	CLEC4F	70897363	0.002000	0.14202	0.110000	0.21437	0.340000	0.28889	0.282000	0.18829	0.575000	0.29434	0.313000	0.20887	GAA		TCGA-IB-7651-01A-11D-2154-08	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	1	0	0	16	283	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.999306e-01	15	280	0	60	2								-5.319823	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.690000	0.410000	1.000000	1.000000	0.708121	0.690000	0	5.400000e-01	8.700000e-01
CLEC4F	165530	broad.mit.edu	37	2	71046523	71046523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71046523C>T	ENST00000272367.2	-	3	308	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D78N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F			37					GTAATGTTGTCTCCCAGAATT	0.532000													Colon(107;10 2157 6841 26035)											0							SO:0001583	missense			ENST00000272367.2	1	1	hg19	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816019	0.50527	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01963	4.58;4.53	3.59	-0.488	0.12056	.	1.740840	0.03574	N	0.229119	T	0.02012	0.0063	L	0.43152	1.355	0.09310	N	1	B;B	0.21821	0.061;0.061	B;B	0.13407	0.009;0.009	T	0.45220	-0.9276	10	0.06757	T	0.87	.	1.0895	0.01660	0.1798:0.4327:0.1751:0.2124	.	78;78	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	N	78	ENSP00000272367:D78N;ENSP00000390581:D78N	ENSP00000272367:D78N	D	-	1	0	CLEC4F	70900031	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	-0.508000	0.06344	-0.103000	0.12175	0.305000	0.20034	GAC		TCGA-IB-7651-01A-11D-2154-08	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	0	0	1	74	247	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	68	235	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD207	50489	broad.mit.edu	37	2	71060782	71060782	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71060782C>T	ENST00000410009.3	-	3	605	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin			20					CTTACTTTGTCGTTTGAGCAA	0.483000																								0							SO:0001583	missense			ENST00000410009.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.958792	0.00465	.	.	ENSG00000116031	ENST00000410009	T	0.28454	1.61	4.01	0.32	0.15878	.	0.885835	0.09699	N	0.767266	T	0.09774	0.0240	N	0.02315	-0.6	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33574	-0.9863	10	0.17832	T	0.49	.	2.4971	0.04624	0.2028:0.2341:0.0:0.5631	.	187	Q9UJ71	CLC4K_HUMAN	Q	187	ENSP00000386378:R187Q	ENSP00000386378:R187Q	R	-	2	0	CD207	70914290	0.005000	0.15991	0.036000	0.18154	0.022000	0.10575	-0.415000	0.07106	0.043000	0.15746	-1.087000	0.02190	CGA		TCGA-IB-7651-01A-11D-2154-08	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	1	0	1	28	56	0	13	0	2.669133e-01	1	2	0	13	2		0	0	0	0	0	2	1	1	26	56	0	13	2								-20.000000	1	1	120834	8	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD207	50489	broad.mit.edu	37	2	71062649	71062649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062649C>T	ENST00000410009.3	-	2	208	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin			20					AGGACGGAGGCGACCAGGACC	0.597000																								0							SO:0001583	missense			ENST00000410009.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.32	1.317390	0.23908	.	.	ENSG00000116031	ENST00000410009	T	0.04156	3.69	4.87	-2.16	0.07080	.	0.407067	0.21670	N	0.070893	T	0.01730	0.0055	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.43861	-0.9365	10	0.12430	T	0.62	.	1.0347	0.01546	0.1653:0.2023:0.1641:0.4684	.	55	Q9UJ71	CLC4K_HUMAN	T	55	ENSP00000386378:A55T	ENSP00000386378:A55T	A	-	1	0	CD207	70916157	0.001000	0.12720	0.002000	0.10522	0.055000	0.15305	-0.664000	0.05292	-0.119000	0.11830	-0.175000	0.13238	GCC		TCGA-IB-7651-01A-11D-2154-08	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	0	0	0	5	207	0	30	0	8.397490e-03	0	5	0	30	2		0	0	0	0	0	2	1	9.334879e-01	5	201	0	30	2								-6.599350	1	0	121114	4	36	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.320000	0.120000	0.650000	0.300000	0.352382	0.320000	0	2.000000e-01	4.800000e-01
CD207	50489	broad.mit.edu	37	2	71062889	71062889	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062889C>A	ENST00000410009.3	-	1	63	c.18G>T	c.(16-18)gaG>gaT	p.E6D		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin			20					CATCAGGGGCCTCCTTCTCCA	0.562000																								0							SO:0001583	missense			ENST00000410009.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.42	1.634852	0.29068	.	.	ENSG00000116031	ENST00000410009	T	0.04706	3.57	4.24	2.42	0.29668	.	0.132092	0.34676	N	0.003765	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.21655	-1.0239	10	0.36615	T	0.2	.	5.8743	0.18820	0.0:0.7655:0.0:0.2345	.	6	Q9UJ71	CLC4K_HUMAN	D	6	ENSP00000386378:E6D	ENSP00000386378:E6D	E	-	3	2	CD207	70916397	0.062000	0.20869	0.201000	0.23476	0.052000	0.14988	0.268000	0.18571	1.114000	0.41781	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	0	0	0	5	95	0	18	0	0	1	0	0	18	2		0	0	0	0	0	2	1	9.341350e-01	4	94	0	18	2								-9.013785	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.680000	0.260000	1.000000	1.000000	0.693558	0.680000	0	4.400000e-01	9.900000e-01
NAGK	55577	broad.mit.edu	37	2	71305565	71305565	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71305565G>T	ENST00000244204.6	+	10	1024	c.962G>T	c.(961-963)aGg>aTg	p.R321M	NAGK_ENST00000443938.2_Missense_Mutation_p.R317M|NAGK_ENST00000443872.2_Missense_Mutation_p.R173M|NAGK_ENST00000455662.2_Missense_Mutation_p.R367M|NAGK_ENST00000418807.3_Missense_Mutation_p.R270M			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase			18				N-Acetyl-D-glucosamine(DB00141)	CTAGGGGCCAGGCACATCGGG	0.617000																								0							SO:0001583	missense			ENST00000244204.6	0	1	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.91|18.91|18.91	3.723219|3.723219|3.723219	0.68959|0.68959|0.68959	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000524537|ENST00000244204;ENST00000455662;ENST00000418807	.|.|T;T;T	.|.|0.48201	.|.|1.41;1.38;0.82	4.82|4.82|4.82	0.615|0.615|0.615	0.17608|0.17608|0.17608	.|.|.	.|.|0.352887	.|.|0.31834	.|.|N	.|.|0.006984	T|T|T	0.39200|0.39200|0.39200	0.1069|0.1069|0.1069	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.49687|0.49687|0.49687	D|D|D	0.99981|0.99981|0.99981	.|.|B	.|.|0.30439	.|.|0.279	.|.|B	.|.|0.32022	.|.|0.139	T|T|T	0.30534|0.30534|0.30534	-0.9975|-0.9975|-0.9975	5|5|10	.|.|0.66056	.|.|D	.|.|0.02	-13.0177|-13.0177|-13.0177	4.3929|4.3929|4.3929	0.11350|0.11350|0.11350	0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617|0.3032:0.0:0.5351:0.1617	.|.|.	.|.|321	.|.|Q9UJ70	.|.|NAGK_HUMAN	C|H|M	339|85|321;367;270	.|.|ENSP00000244204:R321M;ENSP00000389087:R367M;ENSP00000396070:R270M	.|.|ENSP00000244204:R321M	G|Q|R	+|+|+	1|3|2	0|2|0	NAGK|NAGK|NAGK	71159073|71159073|71159073	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	0.697000|0.697000|0.697000	0.25556|0.25556|0.25556	0.559000|0.559000|0.559000	0.29153|0.29153|0.29153	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGC|CAG|AGG		TCGA-IB-7651-01A-11D-2154-08	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1	1	0	1	35	125	0	19	1	1	81	219	0	19	2		0	0	0	0	0	2	1	1	34	120	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCEE	84693	broad.mit.edu	37	2	71351596	71351596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71351596C>A	ENST00000244217.5	-	2	135	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase			9					CACACAGAACCTGTCACTTGA	0.468000																								0							SO:0001583	missense			ENST00000244217.5	1	1	hg19	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854643	0.51376	.	.	ENSG00000124370	ENST00000244217	T	0.65178	-0.14	5.33	2.44	0.29823	.	0.727471	0.13510	N	0.382552	T	0.65312	0.2679	M	0.65975	2.015	0.09310	N	1	D	0.63046	0.992	P	0.52856	0.711	T	0.56050	-0.8043	10	0.66056	D	0.02	-25.9894	4.5436	0.12071	0.0:0.5656:0.1631:0.2713	.	40	Q96PE7	MCEE_HUMAN	C	40	ENSP00000244217:G40C	ENSP00000244217:G40C	G	-	1	0	MCEE	71205104	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.288000	0.08377	0.284000	0.22305	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	1	0	1	241	661	0	159	1	1	67	60	0	159	2		0	0	0	0	0	2	1	1	238	651	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF638	27332	broad.mit.edu	37	2	71625864	71625864	+	Missense_Mutation	SNP	C	C	T	rs141861784	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71625864C>T	ENST00000409544.1	+	12	3092	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ZNF638_ENST00000264447.4_Missense_Mutation_p.T821M|ZNF638_ENST00000355812.3_Missense_Mutation_p.T821M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638			63					TCTGTGGTAACGGTAGCTGTT	0.323000																								0							SO:0001583	missense			ENST00000409544.1	1	0	hg19	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025369	0.75390	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.57436	0.4;1.43;1.43	5.22	5.22	0.72569	.	0.342010	0.25244	N	0.032067	T	0.59404	0.2191	N	0.24115	0.695	0.35668	D	0.813052	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.926	T	0.68420	-0.5413	10	0.66056	D	0.02	-8.3712	14.1517	0.65389	0.0:1.0:0.0:0.0	.	821;821;821;821	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	M	400;821;821;821	ENSP00000348066:T821M;ENSP00000264447:T821M;ENSP00000386433:T821M	ENSP00000264447:T821M	T	+	2	0	ZNF638	71479372	0.765000	0.28485	1.000000	0.80357	0.947000	0.59692	2.060000	0.41394	2.701000	0.92244	0.585000	0.79938	ACG		TCGA-IB-7651-01A-11D-2154-08	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	1	0	0	67	817	0	155	1	9.870153e-01	6	77	0	155	2		0	0	0	0	0	2	1	1	66	801	0	154	2								-13.959200	1	1	121410	250	59	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.960000	0.750000	1.000000	1.000000	0.941182	0.960000	1	8.500000e-01	1
ZNF638	27332	broad.mit.edu	37	2	71654323	71654323	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71654323T>G	ENST00000409544.1	+	24	5954	c.5324T>G	c.(5323-5325)gTt>gGt	p.V1775G	ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638			63					CTTAATTTTGTTACTGTTGAT	0.368000																								0							SO:0001583	missense			ENST00000409544.1	1	1	hg19	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821830	0.71028	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.50813	0.73;0.73;1.13	5.71	5.71	0.89125	.	0.000000	0.47093	D	0.000259	T	0.54464	0.1860	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.56962	-0.7892	10	0.49607	T	0.09	-14.1295	13.9308	0.63994	0.0:0.0:0.0:1.0	.	1775;1775	Q14966-3;Q14966	.;ZN638_HUMAN	G	1775;1775;715	ENSP00000264447:V1775G;ENSP00000386433:V1775G;ENSP00000386813:V715G	ENSP00000264447:V1775G	V	+	2	0	ZNF638	71507831	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.904000	0.69886	2.169000	0.68431	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	1	0	1	127	579	0	113	1	1	51	134	0	113	2		0	0	0	0	0	2	1	1	124	561	0	110	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF144A	9781	broad.mit.edu	37	2	7170280	7170280	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7170280C>T	ENST00000320892.6	+	8	1123	c.681C>T	c.(679-681)taC>taT	p.Y227Y	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A			25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)			TGATACACTACGATAAGGGAC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000320892.6	1	1	hg19	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	c	7.981	0.751179	0.15778	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.09	-7.49	0.01355	.	.	.	.	.	T	0.62600	0.2441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67998	-0.5525	4	.	.	.	.	15.9038	0.79403	0.0:0.5952:0.0:0.4048	.	.	.	.	M	223	.	.	T	+	2	0	RNF144A	7087731	0.009000	0.17119	0.845000	0.33349	0.840000	0.47671	-1.079000	0.03410	-1.083000	0.03097	-0.619000	0.04042	ACG		TCGA-IB-7651-01A-11D-2154-08	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	1	0	0	30	486	0	76	1	7.572411e-01	3	43	0	76	2		0	0	0	0	0	2	1	1	30	471	0	75	2								-6.534183	1	1	121412	2	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.740000	0.510000	1.000000	1.000000	0.756274	0.740000	0	6.200000e-01	8.900000e-01
DYSF	8291	broad.mit.edu	37	2	71797772	71797772	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71797772G>A	ENST00000258104.3	+	29	3352	c.3075G>A	c.(3073-3075)aaG>aaA	p.K1025K	DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000409366.1_Silent_p.K1026K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000410041.1_Silent_p.K1043K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin			111					GGAAGCCGAAGCACTGGGTCC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000258104.3	1	1	hg19	CCDS1918.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	1	0	1	39	154	0	36	0	9.871176e-01	0	30	0	36	2		0	0	0	0	0	2	1	1	39	153	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYSF	8291	broad.mit.edu	37	2	71825816	71825816	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71825816G>A	ENST00000258104.3	+	33	3920	c.3643G>A	c.(3643-3645)Gcc>Acc	p.A1215T	DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin			111					TGGCGAGCCGGCCACAGTTGC	0.592000																								0							SO:0001583	missense			ENST00000258104.3	1	1	hg19	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573708	0.28092	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.66	1.54	0.23209	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.929726	0.09356	N	0.813410	T	0.68274	0.2983	N	0.26130	0.795	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16802	0.015;0.015;0.002;0.015;0.004;0.004;0.004;0.002;0.015;0.001;0.001;0.009;0.015;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.25759	0.038;0.038;0.009;0.038;0.038;0.038;0.038;0.038;0.038;0.009;0.009;0.038;0.038;0.063	T	0.54899	-0.8224	10	0.27785	T	0.31	-4.3415	7.2742	0.26275	0.1531:0.2606:0.5864:0.0	.	1247;1233;1216;1202;1233;1202;1232;1201;1246;1232;1215;1201;1216;1215	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	T	1246;1232;1232;1215;1215;1247;1216;1202;1216;1233;1233	ENSP00000407046:A1246T;ENSP00000387137:A1232T;ENSP00000386547:A1232T;ENSP00000398305:A1215T;ENSP00000258104:A1215T;ENSP00000386683:A1247T;ENSP00000377678:A1216T;ENSP00000386285:A1202T;ENSP00000386512:A1216T;ENSP00000386881:A1233T;ENSP00000386617:A1233T	ENSP00000258104:A1215T	A	+	1	0	DYSF	71679324	0.050000	0.20438	0.039000	0.18376	0.359000	0.29487	0.816000	0.27267	0.749000	0.32854	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	0	0	11	333	0	66	0	2.165449e-01	0	25	0	66	2		0	0	0	0	0	2	1	9.981755e-01	11	325	0	65	2								-3.784171	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.420000	0.220000	0.690000	0.400000	0.438516	0.420000	0	3.100000e-01	5.600000e-01
DYSF	8291	broad.mit.edu	37	2	71883410	71883410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71883410G>T	ENST00000258104.3	+	42	4905	c.4628G>T	c.(4627-4629)gGt>gTt	p.G1543V	DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin			111					TCTGTGATTGGTGAATTTAAG	0.517000																								0		GRCh37	CM074150	DYSF	M		SO:0001583	missense			ENST00000258104.3	1	1	hg19	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967841	0.74131	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90788	-2.73;-2.69;-2.69;-2.69;-2.72;-2.73;-2.72;-2.67;-2.69;-2.69;-2.69	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.220575	0.47093	D	0.000249	D	0.96291	0.8790	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.997;0.998;1.0;0.998;1.0;0.999;0.998;1.0;0.995;0.997;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.988;0.962;0.978;0.988;0.962;0.991;0.993;0.991;0.997;0.978;0.993;0.993;0.962;0.962;0.917	D	0.96680	0.9503	10	0.72032	D	0.01	-37.0403	16.7046	0.85368	0.0:0.0:1.0:0.0	.	307;1575;1582;1565;1530;1561;1551;1560;1550;1574;1581;1564;1529;1544;1543	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1574;1560;1581;1564;1543;1575;1544;1551;1565;1582;1561	ENSP00000407046:G1574V;ENSP00000387137:G1560V;ENSP00000386547:G1581V;ENSP00000398305:G1564V;ENSP00000258104:G1543V;ENSP00000386683:G1575V;ENSP00000377678:G1544V;ENSP00000386285:G1551V;ENSP00000386512:G1565V;ENSP00000386881:G1582V;ENSP00000386617:G1561V	ENSP00000258104:G1543V	G	+	2	0	DYSF	71736918	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.524000	0.98036	2.804000	0.96469	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	1	0	1	396	1149	0	336	0	9.995461e-01	1	33	0	336	2		0	0	0	0	0	2	1	1	387	1136	0	333	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP26B1	56603	broad.mit.edu	37	2	72371142	72371142	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371142G>A	ENST00000001146.2	-	2	608	c.405C>T	c.(403-405)ggC>ggT	p.G135G	CYP26B1_ENST00000546307.1_Intron|CYP26B1_ENST00000412253.1_5'Flank	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1			28					GGTGGATGTCGCCAATGGAAT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000001146.2	1	1	hg19	CCDS1919.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	1	0	0	24	380	0	77	0	3.423507e-02	0	5	0	77	2		0	0	0	0	0	2	1	9.999996e-01	24	373	0	76	2								-6.255896	1	1	121410	1	32	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.760000	0.500000	1.000000	1.000000	0.773032	0.760000	0	6.200000e-01	9.200000e-01
CYP26B1	56603	broad.mit.edu	37	2	72371289	72371289	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371289C>T	ENST00000001146.2	-	2	461	c.258G>A	c.(256-258)acG>acA	p.T86T	CYP26B1_ENST00000546307.1_Intron|CYP26B1_ENST00000412253.1_5'Flank	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1			28					CCAACAAATGCGTCTTGAACA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000001146.2	1	1	hg19	CCDS1919.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	1	0	1	101	498	0	107	0	1.363780e-01	0	4	0	107	2		0	0	0	0	0	2	1	1	100	489	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EMX1	2016	broad.mit.edu	37	2	73145311	73145311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73145311G>A	ENST00000258106.6	+	1	708	c.330G>A	c.(328-330)tcG>tcA	p.S110S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1			6					cgggccgcTCGCTCTACGGTG	0.771000																								0							SO:0001819	synonymous_variant			ENST00000258106.6	1	1	hg19	CCDS1921.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3	1	0	0	44	80	0	13	0	0	1	0	0	13	2		0	0	0	0	0	2	1	1	43	80	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFXN5	94097	broad.mit.edu	37	2	73198789	73198789	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73198789G>A	ENST00000272433.2	-	11	781	c.651C>T	c.(649-651)gtC>gtT	p.V217V	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5			9					ACCGCATCAGGACCACATTGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000272433.2	1	1	hg19	CCDS1922.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	1	0	0	19	211	0	45	0	2.452336e-01	0	11	0	45	2		0	0	0	0	0	2	1	9.999908e-01	19	206	0	45	2								-19.999990	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.660000	1.000000	1.000000	0.946308	0.990000	1	8.400000e-01	1
SMYD5	10322	broad.mit.edu	37	2	73449901	73449901	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73449901C>T	ENST00000389501.4	+	7	706	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5			13					GGAACTTCTGCGGAGACTCTT	0.587000																								0							SO:0001583	missense			ENST00000389501.4	0	1	hg19	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905965	0.72868	.	.	ENSG00000135632	ENST00000389501	T	0.47869	0.83	4.6	2.59	0.31030	SET domain (2);	0.180314	0.48767	D	0.000175	T	0.62392	0.2424	M	0.77103	2.36	0.39539	D	0.968782	D	0.71674	0.998	P	0.60886	0.88	T	0.66152	-0.5995	10	0.35671	T	0.21	-9.9667	12.5013	0.55957	0.2975:0.7025:0.0:0.0	.	221	Q6GMV2	SMYD5_HUMAN	W	221	ENSP00000374152:R221W	ENSP00000374152:R221W	R	+	1	2	SMYD5	73303409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.396000	0.44468	1.242000	0.43836	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	1	0	1	13	91	0	23	1	9.999002e-01	16	108	0	23	2		0	0	0	0	0	2	1	9.995468e-01	13	87	0	23	2								-19.934340	1	1	121410	2	33	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.920000	1.000000	1.000000	0.995064	0.990000	1	9.900000e-01	1
SMYD5	10322	broad.mit.edu	37	2	73450209	73450209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73450209A>G	ENST00000389501.4	+	8	796	c.751A>G	c.(751-753)Acc>Gcc	p.T251A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5			13					TCTTGTTGGGACCAATGGCCA	0.483000																								0							SO:0001583	missense			ENST00000389501.4	1	1	hg19	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838105	0.91117	.	.	ENSG00000135632	ENST00000389501	T	0.80653	-1.4	4.39	4.39	0.52855	SET domain (2);	0.094256	0.64402	D	0.000001	D	0.86276	0.5894	M	0.78049	2.395	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.83964	0.0323	10	0.14252	T	0.57	-18.4045	12.8616	0.57915	1.0:0.0:0.0:0.0	.	251	Q6GMV2	SMYD5_HUMAN	A	251	ENSP00000374152:T251A	ENSP00000374152:T251A	T	+	1	0	SMYD5	73303717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.175000	0.89684	1.995000	0.58328	0.402000	0.26972	ACC		TCGA-IB-7651-01A-11D-2154-08	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	1	0	1	221	617	0	149	1	1	59	51	0	149	2		0	0	0	0	0	2	1	1	215	610	0	148	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCT7	10574	broad.mit.edu	37	2	73470188	73470188	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73470188G>A	ENST00000258091.5	+	4	465	c.324G>A	c.(322-324)gtG>gtA	p.V108V	CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000539919.1_Silent_p.V64V	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)			7					TGAAGCAGGTGAAACCCTATG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000258091.5	1	1	hg19	CCDS46336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2	1	0	1	65	332	0	76	1	1	134	630	0	76	2		0	0	0	0	0	2	1	1	65	322	0	74	2								-3.334811	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCT7	10574	broad.mit.edu	37	2	73471724	73471724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73471724C>A	ENST00000258091.5	+	6	640	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000539919.1_Missense_Mutation_p.L123M	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)			7					GAGCTCCAAGCTGATCTCCCA	0.488000																								0							SO:0001583	missense			ENST00000258091.5	1	1	hg19	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017429	0.75161	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	4.89	4.02	0.46733	.	0.149169	0.45867	D	0.000322	D	0.87034	0.6077	M	0.85542	2.76	0.80722	D	1	D;P;P;P;P	0.57899	0.981;0.728;0.682;0.73;0.692	P;P;B;P;P	0.56648	0.803;0.451;0.397;0.612;0.5	D	0.87435	0.2391	10	0.46703	T	0.11	-14.8483	11.3016	0.49309	0.0:0.9111:0.0:0.0889	.	80;39;67;125;167	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;Q99832	.;.;.;.;TCPH_HUMAN	M	80;123;167;67;39;125	ENSP00000442058:L80M;ENSP00000437824:L123M;ENSP00000258091:L167M;ENSP00000444379:L67M;ENSP00000438462:L39M	ENSP00000258091:L167M	L	+	1	2	CCT7	73325232	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.223000	0.51231	1.431000	0.47355	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2	1	0	1	25	121	0	34	1	1	353	511	0	34	2		0	0	0	0	0	2	1	9.999999e-01	23	121	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
CCT7	10574	broad.mit.edu	37	2	73476192	73476192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73476192C>T	ENST00000258091.5	+	8	998	c.857C>T	c.(856-858)gCc>gTc	p.A286V	CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000539919.1_Missense_Mutation_p.A242V	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)			7					CATTCTGGAGCCAAAGTTGTC	0.483000																								0							SO:0001583	missense			ENST00000258091.5	1	1	hg19	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514495	0.85389	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	M	0.71920	2.185	0.80722	D	1	P;D;P;D;B;D	0.61697	0.495;0.971;0.845;0.99;0.02;0.963	B;P;B;P;B;P	0.62014	0.209;0.668;0.399;0.897;0.046;0.809	D	0.86972	0.2098	10	0.59425	D	0.04	-18.3614	16.9294	0.86186	0.0:1.0:0.0:0.0	.	199;158;186;244;82;286	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	V	199;242;286;82;186;158;244	ENSP00000442058:A199V;ENSP00000437824:A242V;ENSP00000258091:A286V;ENSP00000381456:A82V;ENSP00000444379:A186V;ENSP00000438462:A158V	ENSP00000258091:A286V	A	+	2	0	CCT7	73329700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.599000	0.82757	2.671000	0.90904	0.455000	0.32223	GCC		TCGA-IB-7651-01A-11D-2154-08	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2	0	0	0	10	276	0	53	1	9.999978e-01	17	826	0	53	2		0	0	0	0	0	2	1	9.968561e-01	10	273	0	53	2								-3.750903	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.460000	0.230000	0.770000	0.450000	0.481900	0.460000	0	3.300000e-01	6.200000e-01
FBXO41	150726	broad.mit.edu	37	2	73486119	73486119	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73486119G>A	ENST00000521871.1	-	13	3034	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	FBXO41_ENST00000295133.5_Silent_p.G934G|FBXO41_ENST00000520530.2_Silent_p.G873G			Q8TF61	FBX41_HUMAN	F-box protein 41			13					GTTAGCAGCCGCCTTCCACCT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000521871.1	0	1	hg19	CCDS46337.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1	1	0	0	19	38	0	10	0	9.338166e-01	0	12	0	10	2		0	0	0	0	0	2	1	9.999979e-01	19	38	0	10	2								-20.000000	1	1	120082	3	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGR4	1961	broad.mit.edu	37	2	73519155	73519155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519155G>A	ENST00000545030.1	-	2	1274	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	EGR4_ENST00000436467.2_Silent_p.S297S	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4			11					CGCCGTCGCCGCTACTCCCTC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000545030.1	0	1	hg19	CCDS1925.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	12	109	0	18	0	3.293470e-02	0	3	0	18	2		0	0	0	0	0	2	1	9.991573e-01	12	106	0	18	2								-18.417760	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.710000	1.000000	1.000000	0.973478	0.990000	1	9.600000e-01	1
EGR4	1961	broad.mit.edu	37	2	73519670	73519670	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519670G>A	ENST00000545030.1	-	2	759	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	EGR4_ENST00000436467.2_Silent_p.L126L	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4			11					GGGGCATCCAGCGGGGATCTG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000545030.1	0	1	hg19	CCDS1925.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	4	94	0	12	0	2.585810e-02	1	4	0	12	2		0	0	0	0	0	2	1	8.918578e-01	4	94	0	12	2								-8.123860	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.570000	0.190000	1.000000	1.000000	0.601234	0.570000	0	3.500000e-01	8.700000e-01
ALMS1	7840	broad.mit.edu	37	2	73675536	73675536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73675536C>T	ENST00000264448.6	+	8	1990	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S|ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1			147					TAGAGAGAAGCCTGGTACTTT	0.473000																								0							SO:0001583	missense			ENST00000264448.6	1	1	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497604	0.04291	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17691	3.14;3.13;2.26	4.08	0.202	0.15190	.	1.540760	0.03657	N	0.242053	T	0.12433	0.0302	L	0.38175	1.15	0.09310	N	1	P;P;B	0.35401	0.499;0.499;0.307	B;B;B	0.26416	0.069;0.069;0.069	T	0.26052	-1.0114	10	0.34782	T	0.22	.	6.1427	0.20269	0.0:0.5246:0.0:0.4754	.	627;585;627	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	585;627;627	ENSP00000386627:P585S;ENSP00000264448:P627S;ENSP00000366944:P627S	ENSP00000264448:P627S	P	+	1	0	ALMS1	73529044	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.079000	0.03410	0.016000	0.14998	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	1	189	662	0	180	1	7.364896e-01	4	7	0	180	2		0	0	0	0	0	2	1	1	186	652	0	177	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALMS1	7840	broad.mit.edu	37	2	73718408	73718408	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73718408G>T	ENST00000264448.6	+	10	9430	c.9319G>T	c.(9319-9321)Gca>Tca	p.A3107S	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1			147					TAAACCTGTAGCACAGGATCA	0.393000																								0							SO:0001583	missense			ENST00000264448.6	1	1	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059890	0.55325	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06849	3.25;3.25	4.0	3.12	0.35913	.	0.624751	0.14322	N	0.326937	T	0.13286	0.0322	L	0.48642	1.525	0.80722	D	1	P;P;P	0.37636	0.603;0.603;0.603	P;P;P	0.48368	0.575;0.575;0.575	T	0.05386	-1.0888	10	0.48119	T	0.1	.	7.6443	0.28311	0.1148:0.0:0.8852:0.0	.	3107;3065;3107	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	3065;3107	ENSP00000386627:A3065S;ENSP00000264448:A3107S	ENSP00000264448:A3107S	A	+	1	0	ALMS1	73571916	0.990000	0.36364	0.978000	0.43139	0.961000	0.63080	0.899000	0.28417	1.279000	0.44446	0.580000	0.79431	GCA		TCGA-IB-7651-01A-11D-2154-08	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	0	18	463	0	111	0	2.728236e-01	1	25	0	111	2		0	0	0	0	0	2	1	9.999802e-01	18	456	0	109	2								-17.078430	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.480000	0.290000	0.720000	0.480000	0.498734	0.480000	0	3.800000e-01	6.100000e-01
ALMS1	7840	broad.mit.edu	37	2	73762007	73762007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73762007C>T	ENST00000264448.6	+	12	9946	c.9835C>T	c.(9835-9837)Cca>Tca	p.P3279S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3237S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1			147					GTATTATGTTCCACAATTAAG	0.348000																								0							SO:0001583	missense			ENST00000264448.6	1	1	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576900	0.45902	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08282	3.11;3.11	4.76	3.88	0.44766	.	0.191887	0.25881	N	0.027690	T	0.11665	0.0284	L	0.36672	1.1	0.80722	D	1	P;P;D;P	0.56521	0.873;0.946;0.976;0.873	B;P;P;B	0.52424	0.412;0.509;0.698;0.412	T	0.03139	-1.1068	10	0.54805	T	0.06	.	8.7908	0.34850	0.0:0.8977:0.0:0.1023	.	3279;3279;3237;3279	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	S	3237;3279	ENSP00000386627:P3237S;ENSP00000264448:P3279S	ENSP00000264448:P3279S	P	+	1	0	ALMS1	73615515	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	2.662000	0.46766	1.229000	0.43630	0.491000	0.48974	CCA		TCGA-IB-7651-01A-11D-2154-08	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	0	0	0	25	729	0	134	1	3.629840e-01	2	35	0	134	2		0	0	0	0	0	2	1	9.999998e-01	25	714	0	132	2								-2.941920	1	1	120784	1	32	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.420000	0.280000	0.600000	0.420000	0.437104	0.420000	0	3.400000e-01	5.200000e-01
ALMS1	7840	broad.mit.edu	37	2	73828501	73828501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73828501G>A	ENST00000264448.6	+	19	12160	c.12049G>A	c.(12049-12051)Gca>Aca	p.A4017T	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1			147					GGGCTACCTGGCAGGCCCAGG	0.572000																								0							SO:0001583	missense			ENST00000264448.6	1	1	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374355	0.61735	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06449	3.3;3.3	5.17	2.11	0.27256	.	0.704599	0.12773	N	0.440361	T	0.13500	0.0327	L	0.43152	1.355	0.09310	N	0.999998	P;D	0.60575	0.746;0.988	B;P	0.60236	0.33;0.871	T	0.12656	-1.0539	10	0.51188	T	0.08	.	9.7807	0.40647	0.0:0.2824:0.5721:0.1455	.	3975;4017	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	T	3975;4017	ENSP00000386627:A3975T;ENSP00000264448:A4017T	ENSP00000264448:A4017T	A	+	1	0	ALMS1	73682009	0.009000	0.17119	0.001000	0.08648	0.094000	0.18550	1.680000	0.37607	0.689000	0.31550	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	0	122	350	0	65	1	9.999999e-01	21	47	0	65	2		0	0	0	0	0	2	1	1	120	345	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALMS1	7840	broad.mit.edu	37	2	73829384	73829384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73829384G>A	ENST00000264448.6	+	20	12295	c.12184G>A	c.(12184-12186)Gtc>Atc	p.V4062I	ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1			147					GAAGTTAATAGTCCAGGAGAG	0.502000																								0							SO:0001583	missense			ENST00000264448.6	1	1	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330713	0.81690	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07327	3.2;3.2	5.38	4.43	0.53597	.	0.377452	0.25436	N	0.030696	T	0.19846	0.0477	L	0.46157	1.445	0.80722	D	1	P;D	0.64830	0.835;0.994	P;D	0.72982	0.685;0.979	T	0.00038	-1.2247	10	0.62326	D	0.03	.	10.8552	0.46794	0.0971:0.0:0.9029:0.0	.	4020;4062	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	I	4020;4062	ENSP00000386627:V4020I;ENSP00000264448:V4062I	ENSP00000264448:V4062I	V	+	1	0	ALMS1	73682892	0.529000	0.26322	1.000000	0.80357	0.998000	0.95712	2.785000	0.47782	2.793000	0.96121	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	1	81	217	0	67	1	9.999994e-01	23	37	0	67	2		0	0	0	0	0	2	1	1	81	211	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTG2	72	broad.mit.edu	37	2	74146577	74146577	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74146577C>T	ENST00000409624.1	+	10	1649	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W|ACTG2_ENST00000409731.3_Missense_Mutation_p.R293W			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric			18					TCCCCCAGAGCGGAAGTACTC	0.507000																								0							SO:0001583	missense			ENST00000409624.1	1	1	hg19	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924572	0.52653	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.96365	-3.99;-3.99;-3.99	4.95	4.05	0.47172	.	0.400763	0.20589	N	0.089385	D	0.99227	0.9731	H	0.99991	5.33	0.45452	D	0.998427	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.97857	1.0278	10	0.87932	D	0	.	13.8071	0.63238	0.1546:0.8453:0.0:0.0	.	293;336	E9PG30;P63267	.;ACTH_HUMAN	W	293;336;336	ENSP00000386929:R293W;ENSP00000295137:R336W;ENSP00000386857:R336W	ENSP00000295137:R336W	R	+	1	2	ACTG2	74000085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.107000	0.50329	1.395000	0.46643	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	1	0	1	68	401	0	86	0	9.850040e-01	0	41	0	86	2		0	0	0	0	0	2	1	1	67	393	0	84	2								-3.222392	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TET3	200424	broad.mit.edu	37	2	74273825	74273825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74273825G>A	ENST00000409262.3	+	1	376	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3			34					GACGGCCCTGGCCCTCGCGCG	0.627000																								0							SO:0001583	missense			ENST00000409262.3	1	1	hg19	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676362	0.67928	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.28895	1.59;2.5	5.31	5.31	0.75309	.	.	.	.	.	T	0.25419	0.0618	N	0.24115	0.695	0.37515	D	0.917294	B	0.27853	0.191	B	0.26770	0.073	T	0.13683	-1.0500	9	0.56958	D	0.05	.	17.9029	0.88910	0.0:0.0:1.0:0.0	.	126	O43151	TET3_HUMAN	T	168;126;126	ENSP00000307803:A168T;ENSP00000386869:A126T	ENSP00000233310:A126T	A	+	1	0	TET3	74127333	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.283000	0.58977	2.768000	0.95171	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4	1	0	1	128	335	0	98	1	8.092605e-01	2	8	0	98	2		0	0	0	0	0	2	1	1	126	332	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TET3	200424	broad.mit.edu	37	2	74274777	74274777	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74274777A>T	ENST00000409262.3	+	1	1328	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3			34					CCCAAGGAGAAGAAGAAGAAG	0.592000																								0							SO:0001583	missense			ENST00000409262.3	0	1	hg19	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826483	0.50739	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.27890	1.64;2.52	5.55	5.55	0.83447	.	.	.	.	.	T	0.33876	0.0878	L	0.29908	0.895	0.30441	N	0.776174	D	0.62365	0.991	P	0.54270	0.747	T	0.28996	-1.0026	9	0.59425	D	0.04	.	9.2408	0.37495	0.9181:0.0:0.0819:0.0	.	443	O43151	TET3_HUMAN	M	485;443;443	ENSP00000307803:K485M;ENSP00000386869:K443M	ENSP00000233310:K443M	K	+	2	0	TET3	74128285	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.545000	0.53648	2.115000	0.64714	0.482000	0.46254	AAG		TCGA-IB-7651-01A-11D-2154-08	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4	1	0	0	11	133	0	15	0	4.339319e-01	1	17	0	15	2		0	0	0	0	0	2	1	9.984870e-01	11	132	0	15	2								-16.399230	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.530000	1.000000	1.000000	0.901095	0.990000	1	7.400000e-01	1
MTHFD2	10797	broad.mit.edu	37	2	74435776	74435776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74435776C>T	ENST00000394053.2	+	4	570	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase			6				Tetrahydrofolic acid(DB00116)	TAATGTAGGACGAATGTGTTT	0.418000																								0							SO:0001587	stop_gained			ENST00000394053.2	0	1	hg19	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402043	0.83120	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000409601	.	.	.	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9483	0.47315	0.3401:0.6599:0.0:0.0	.	.	.	.	X	164;62;123	.	ENSP00000264090:R62X	R	+	1	2	MTHFD2	74289284	0.942000	0.31987	0.935000	0.37517	0.914000	0.54420	1.619000	0.36965	1.200000	0.43188	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2	1	0	1	308	820	0	188	1	1	9	219	0	188	2		0	0	0	0	0	2	1	1	302	811	0	188	2								-20.000000	1	1	120902	1	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCTN1	1639	broad.mit.edu	37	2	74595911	74595911	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74595911C>A	ENST00000361874.3	-	16	2115	c.1798G>T	c.(1798-1800)Ggt>Tgt	p.G600C	DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C|DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1			45					TGGTCCCCACCTGGCCGAAGG	0.522000																								0							SO:0001583	missense			ENST00000361874.3	1	1	hg19	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038934	0.75617	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;D;T;T	0.82255	-1.16;-1.32;-1.12;-1.13;-1.59;-1.35;-1.37	5.65	4.78	0.61160	.	0.000000	0.44285	D	0.000480	D	0.90188	0.6933	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;0.997	D;D;D;D;D;P	0.97110	0.999;1.0;0.922;0.999;0.982;0.873	D	0.91352	0.5105	10	0.87932	D	0	-7.756	13.7048	0.62631	0.0:0.9255:0.0:0.0745	.	580;563;600;593;466;466	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	C	600;593;583;466;466;563;583;580	ENSP00000354791:G600C;ENSP00000377571:G593C;ENSP00000384844:G466C;ENSP00000387270:G466C;ENSP00000386406:G563C;ENSP00000387327:G583C;ENSP00000386843:G580C	ENSP00000354791:G600C	G	-	1	0	DCTN1	74449419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.309000	0.65774	1.636000	0.50526	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	1	0	1	52	385	0	96	1	1	83	264	0	96	2		0	0	0	0	0	2	1	1	52	373	0	96	2								-3.075757	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
INO80B	83444	broad.mit.edu	37	2	74682672	74682672	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74682672G>T	ENST00000233331.7	+	2	292	c.198G>T	c.(196-198)aaG>aaT	p.K66N	INO80B_ENST00000409917.1_Missense_Mutation_p.K66N|WBP1_ENST00000409737.1_5'Flank|INO80B_ENST00000469849.1_Intron|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B			13					CCCCTGCCAAGCCTCAGCTCA	0.507000																								0							SO:0001583	missense			ENST00000233331.7	1	1	hg19	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841789	0.51057	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.50001	0.77;0.76;0.78;0.76	5.56	3.7	0.42460	.	0.242001	0.40469	N	0.001081	T	0.34513	0.0900	L	0.39898	1.24	0.36444	D	0.865667	B;B;B;B	0.32245	0.361;0.037;0.037;0.022	B;B;B;B	0.29942	0.109;0.017;0.017;0.037	T	0.36720	-0.9736	10	0.31617	T	0.26	-18.2847	8.6538	0.34051	0.0806:0.0:0.7685:0.1508	.	84;66;66;66	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	N	66;66;66;71	ENSP00000233331:K66N;ENSP00000389887:K66N;ENSP00000387267:K66N;ENSP00000386937:K71N	ENSP00000233331:K66N	K	+	3	2	INO80B	74536180	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.354000	0.34056	1.353000	0.45828	0.563000	0.77884	AAG		TCGA-IB-7651-01A-11D-2154-08	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	0	0	0	11	343	0	54	1	9.965458e-01	19	286	0	54	2		0	0	0	0	0	2	1	9.982363e-01	11	337	0	50	2								-3.643952	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.400000	0.210000	0.670000	0.390000	0.426317	0.400000	0	3.000000e-01	5.400000e-01
MOGS	7841	broad.mit.edu	37	2	74689272	74689272	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74689272G>T	ENST00000233616.4	-	4	1806	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.L442L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase			23					GGCTCTGATGGAGCCAGGAAA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000233616.4	1	1	hg19	CCDS42700.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	1	0	1	133	705	0	108	1	1	119	274	0	108	2		0	0	0	0	0	2	1	1	131	685	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOGS	7841	broad.mit.edu	37	2	74691694	74691694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74691694T>C	ENST00000233616.4	-	2	670	c.508A>G	c.(508-510)Act>Gct	p.T170A	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A|MOGS_ENST00000535045.1_Intron	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase			23					ACGAACTCAGTGGTGAGCCTT	0.627000																								0							SO:0001583	missense			ENST00000233616.4	1	1	hg19	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794219	0.90453	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000409065;ENST00000448666;ENST00000414701	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.82323	2.585	0.80722	D	1	P	0.48089	0.905	P	0.54401	0.751	T	0.64698	-0.6346	10	0.51188	T	0.08	-12.3794	13.3999	0.60876	0.0:0.0:0.0:1.0	.	170	Q13724	MOGS_HUMAN	A	170;64;170;64;51	ENSP00000233616:T170A;ENSP00000388201:T64A;ENSP00000386493:T170A;ENSP00000410992:T64A;ENSP00000396298:T51A	ENSP00000233616:T170A	T	-	1	0	MOGS	74545202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.711000	0.74675	2.254000	0.74563	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	1	0	1	88	469	0	102	1	1	70	175	0	102	2		0	0	0	0	0	2	1	1	88	461	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC142	84865	broad.mit.edu	37	2	74702391	74702391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74702391G>A	ENST00000393965.3	-	7	2153	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	MRPL53_ENST00000409710.1_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V|MRPL53_ENST00000258105.7_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142			16					GTCAAGCCAGGCACCCACGAT	0.582000																								0							SO:0001583	missense			ENST00000393965.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709332	0.68615	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.69993	0.3173	M	0.72118	2.19	0.43652	D	0.996062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.73078	-0.4096	10	0.72032	D	0.01	-10.8696	13.081	0.59114	0.0:0.0:1.0:0.0	.	586;579;586	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	V	586;579	ENSP00000377537:A586V;ENSP00000290418:A579V	ENSP00000290418:A579V	A	-	2	0	CCDC142	74555899	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.209000	0.72171	2.472000	0.83506	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	1	0	0	30	635	0	153	0	2.039058e-01	0	18	0	153	2		0	0	0	0	0	2	1	1	31	618	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.570000	0.390000	0.790000	0.570000	0.590351	0.570000	0	4.800000e-01	6.900000e-01
TTC31	64427	broad.mit.edu	37	2	74719130	74719130	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74719130G>T	ENST00000233623.5	+	9	883		c.e9-1		TTC31_ENST00000410003.1_Splice_Site|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31			9					CCTATCCCCAGGCATCTCCGG	0.542000																								0							SO:0001630	splice_region_variant			ENST00000233623.5	1	1	hg19	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920848	0.17982	.	.	ENSG00000115282	ENST00000410003;ENST00000233623;ENST00000414247	.	.	.	4.12	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4006	0.26962	0.1197:0.0:0.8803:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC31	74572638	0.978000	0.34361	0.250000	0.24296	0.357000	0.29423	2.111000	0.41883	0.954000	0.37851	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	1	0	1	59	272	0	84	1	9.679512e-01	24	4	0	84	2		0	0	0	0	0	2	1	1	58	268	0	84	2								-20.000000	1	1	120916	2	37	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DQX1	165545	broad.mit.edu	37	2	74749838	74749838	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74749838T>C	ENST00000404568.3	-	8	1583	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Missense_Mutation_p.D455G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1			18					CAGGTCCCCATCATCATCCAG	0.527000																								0							SO:0001583	missense			ENST00000404568.3	1	1	hg19	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530676	0.64860	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.32023	1.47;1.47	4.57	4.57	0.56435	Helicase-associated domain (2);	0.000000	0.64402	D	0.000001	T	0.42245	0.1194	M	0.77712	2.385	0.45704	D	0.998615	P	0.40360	0.714	P	0.45195	0.473	T	0.47661	-0.9100	10	0.72032	D	0.01	-13.8644	11.9275	0.52827	0.0:0.0:0.0:1.0	.	455	Q8TE96	DQX1_HUMAN	G	455	ENSP00000377523:D455G;ENSP00000384621:D455G	ENSP00000377523:D455G	D	-	2	0	DQX1	74603346	0.999000	0.42202	0.294000	0.24946	0.973000	0.67179	6.075000	0.71261	1.925000	0.55765	0.454000	0.30748	GAT		TCGA-IB-7651-01A-11D-2154-08	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	1	0	0	64	1430	0	285	0	5.834202e-01	1	44	0	285	2		0	0	0	0	0	2	1	1	63	1403	0	282	2								-5.941032	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.540000	0.420000	0.680000	0.540000	0.553410	0.540000	0	4.800000e-01	6.200000e-01
DQX1	165545	broad.mit.edu	37	2	74751381	74751381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74751381C>T	ENST00000404568.3	-	4	704	c.485G>A	c.(484-486)gGa>gAa	p.G162E	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.G162E	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1			18					GCCCCAGGCTCCAGTGCCTCG	0.592000																								0							SO:0001583	missense			ENST00000404568.3	1	1	hg19	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815377	0.02776	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.06068	4.82;4.82;3.35	4.59	4.59	0.56863	DEAD-like helicase (2);	0.144069	0.47093	D	0.000254	T	0.03390	0.0098	N	0.05383	-0.06	0.36377	D	0.861658	B	0.24618	0.107	B	0.22386	0.039	T	0.28396	-1.0045	10	0.06365	T	0.9	-15.8456	14.9166	0.70801	0.0:1.0:0.0:0.0	.	162	Q8TE96	DQX1_HUMAN	E	162;162;44	ENSP00000377523:G162E;ENSP00000384621:G162E;ENSP00000392969:G44E	ENSP00000377523:G162E	G	-	2	0	DQX1	74604889	0.994000	0.37717	1.000000	0.80357	0.600000	0.36913	2.215000	0.42862	2.374000	0.81015	0.609000	0.83330	GGA		TCGA-IB-7651-01A-11D-2154-08	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	0	0	0	18	701	0	104	1	3.591056e-01	3	45	0	104	2		0	0	0	0	0	2	1	9.999753e-01	18	677	0	101	2								-3.145654	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.320000	0.190000	0.490000	0.330000	0.334855	0.320000	0	2.500000e-01	4.100000e-01
HTRA2	27429	broad.mit.edu	37	2	74757547	74757547	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74757547G>A	ENST00000258080.3	+	1	1044	c.414G>A	c.(412-414)ccG>ccA	p.P138P	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P138P|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2			12					TCCCTAGCCCGCCGCCCGCTT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000258080.3	1	1	hg19	CCDS1951.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	1	0	0	31	86	0	15	1	9.999998e-01	28	52	0	15	2		0	0	0	0	0	2	1	1	30	84	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LOXL3	84695	broad.mit.edu	37	2	74762766	74762766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74762766G>A	ENST00000264094.3	-	8	1436	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000393937.2_Silent_p.A310A|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3			30					AGGCCACCATGGCCTCCAGGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000264094.3	1	1	hg19	CCDS1953.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	1	0	1	298	703	0	189	1	9.999570e-01	4	33	0	189	2		0	0	0	0	0	2	1	1	292	694	0	186	2								-16.033380	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HK2	3099	broad.mit.edu	37	2	75094762	75094762	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75094762G>T	ENST00000290573.2	+	3	826		c.e3-1		HK2_ENST00000409174.1_Splice_Site	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2			43					TTTCTCTGCAGAACACGGAGA	0.488000																								0							SO:0001630	splice_region_variant			ENST00000290573.2	1	1	hg19	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554873	0.86231	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5892	0.84760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HK2	74948270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	1	0	1	315	1495	0	335	1	2.817854e-01	6	0	0	335	2		0	0	0	0	0	2	1	1	313	1474	0	335	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HK2	3099	broad.mit.edu	37	2	75105841	75105841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75105841G>A	ENST00000290573.2	+	9	1658	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	HK2_ENST00000409174.1_Missense_Mutation_p.R325H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2			43					CGGAAGGCCCGTGAGGTCCTG	0.632000																								0							SO:0001583	missense			ENST00000290573.2	0	1	hg19	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782262	0.31502	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96651	-4.08;-4.08	4.65	-3.72	0.04411	Hexokinase, C-terminal (1);	0.722806	0.14247	N	0.331688	D	0.91078	0.7192	L	0.55834	1.745	0.09310	N	1	B	0.27656	0.184	B	0.27076	0.076	T	0.81217	-0.1033	10	0.13108	T	0.6	-1.6936	4.6862	0.12758	0.5194:0.0:0.2105:0.2701	.	353	P52789	HXK2_HUMAN	H	353;353;325	ENSP00000290573:R353H;ENSP00000387140:R325H	ENSP00000290573:R353H	R	+	2	0	HK2	74959349	0.000000	0.05858	0.043000	0.18650	0.971000	0.66376	0.535000	0.23114	-0.466000	0.06943	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	1	0	1	24	46	0	11	1	1	40	93	0	11	2		0	0	0	0	0	2	1	1	24	46	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1			24				Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498000													Pancreas(64;62 1268 3653 14826 43765)											0							SO:0001583	missense			ENST00000305249.5	1	1	hg19	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	TACR1	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	1	0	1	62	384	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1	60	381	0	112	2								-3.222087	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACR1	6869	broad.mit.edu	37	2	75425831	75425831	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425831G>A	ENST00000305249.5	-	1	995	c.230C>T	c.(229-231)gCg>gTg	p.A77V	TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1			24				Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGGCCTCCGCGAAGGCCAG	0.502000													Pancreas(64;62 1268 3653 14826 43765)											0							SO:0001583	missense			ENST00000305249.5	1	1	hg19	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172573	0.94807	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.79454	-1.27;-1.27	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91616	0.5307	10	0.87932	D	0	.	16.9498	0.86242	0.0:0.0:1.0:0.0	.	77	P25103	NK1R_HUMAN	V	77	ENSP00000303522:A77V;ENSP00000386448:A77V	ENSP00000303522:A77V	A	-	2	0	TACR1	75279339	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	9.595000	0.98260	2.854000	0.98071	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	1	0	1	52	292	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	50	287	0	96	2								-19.999970	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRTM4	80059	broad.mit.edu	37	2	77745858	77745858	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:77745858C>A	ENST00000409093.1	-	3	1473	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.Q379H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4			64					TCAGAGGTTTCTGGGGAGTTT	0.483000																								0							SO:0001583	missense			ENST00000409093.1	0	1	hg19	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872152	0.17322	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.68	4.79	0.61399	.	0.553031	0.20134	N	0.098526	T	0.58595	0.2133	N	0.22421	0.69	0.35920	D	0.831742	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.59048	-0.7527	10	0.29301	T	0.29	.	8.8148	0.34989	0.0:0.7684:0.1525:0.0791	.	380;379;379	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	380;379;379;379;380	ENSP00000387228:Q380H;ENSP00000387297:Q379H;ENSP00000386357:Q379H;ENSP00000386236:Q379H;ENSP00000386286:Q380H	ENSP00000386236:Q379H	Q	-	3	2	LRRTM4	77599366	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	0.732000	0.26072	1.353000	0.45828	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	0	0	0	6	222	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.641154e-01	6	219	0	26	2								-7.487333	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.350000	0.140000	0.680000	0.330000	0.382922	0.350000	0	2.300000e-01	5.200000e-01
REG3G	130120	broad.mit.edu	37	2	79253879	79253879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79253879C>A	ENST00000272324.5	+	3	301	c.117C>A	c.(115-117)agC>agA	p.S39R	REG3G_ENST00000409471.1_Missense_Mutation_p.S39R|REG3G_ENST00000393897.2_Missense_Mutation_p.S39R	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma			38					CACGGATCAGCTGTCCCAAAG	0.527000																								0							SO:0001583	missense			ENST00000272324.5	1	1	hg19	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151243	0.21371	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.17528	4.2;4.2;2.27	5.05	0.0749	0.14397	C-type lectin-like (1);	0.501906	0.20367	N	0.093738	T	0.12603	0.0306	L	0.48642	1.525	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.007;0.004	T	0.18967	-1.0320	10	0.45353	T	0.12	.	4.9812	0.14166	0.0:0.4397:0.3079:0.2524	.	39;39	Q3SYE6;Q6UW15	.;REG3G_HUMAN	R	39	ENSP00000377475:S39R;ENSP00000272324:S39R;ENSP00000387105:S39R	ENSP00000272324:S39R	S	+	3	2	REG3G	79107387	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.550000	0.06034	-0.090000	0.12462	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	0	0	1	58	183	0	50	0	1	0	560	0	50	2		0	0	0	0	0	2	1	1	53	171	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REG1A	5967	broad.mit.edu	37	2	79347941	79347941	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79347941G>A	ENST00000233735.1	+	2	57		c.e2-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha			39					TTCTCCTATAGAGATTGTTGA	0.458000																								0							SO:0001630	splice_region_variant			ENST00000233735.1	1	1	hg19	CCDS1964.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	1	0	0	8	177	0	35	0	5.910880e-01	0	43	0	35	2		0	0	0	0	0	2	1	9.891428e-01	8	174	0	35	2								-10.638370	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.570000	0.270000	1.000000	1.000000	0.599685	0.570000	0	4.000000e-01	7.900000e-01
REG1A	5967	broad.mit.edu	37	2	79348758	79348758	+	Silent	SNP	C	C	A	rs11557479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79348758C>A	ENST00000233735.1	+	3	238	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha			39					CCTATCGCTCCTACTGCTACT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000233735.1	1	1	hg19	CCDS1964.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	0	0	0	33	1284	0	215	1	1	2	7292	0	215	2		0	0	0	0	0	2	1	1	30	1258	0	212	2								-2.147970	0	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.310000	0.210000	0.440000	0.330000	0.328221	0.310000	0	2.600000e-01	3.800000e-01
REG1A	5967	broad.mit.edu	37	2	79350005	79350005	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79350005C>A	ENST00000233735.1	+	5	463	c.360C>A	c.(358-360)tcC>tcA	p.S120S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha			39					CCCTGGTCTCCTACAAGTCCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000233735.1	1	1	hg19	CCDS1964.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	1	0	1	106	636	0	148	1	1	7	7558	0	148	2		0	0	0	0	0	2	1	1	106	622	0	147	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNA2	1496	broad.mit.edu	37	2	80085159	80085159	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80085159T>G	ENST00000402739.4	+	3	324	c.319T>G	c.(319-321)Tcc>Gcc	p.S107A	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2			78					GCGGATCGCCTCCTCCGAGTT	0.572000																								0							SO:0001583	missense			ENST00000402739.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	8.425	0.847206	0.17034	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.67	5.67	0.87782	.	0.065157	0.64402	N	0.000005	T	0.21022	0.0506	N	0.16166	0.38	0.51767	D	0.999934	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.15484	0.013;0.005;0.008	T	0.08617	-1.0713	10	0.02654	T	1	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	107;107;107	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	A	107;107;107;141;107;107;107	ENSP00000418191:S107A;ENSP00000419295:S107A;ENSP00000387073:S107A;ENSP00000355398:S141A;ENSP00000384638:S107A;ENSP00000444675:S107A;ENSP00000441705:S107A	ENSP00000355398:S141A	S	+	1	0	CTNNA2	79938667	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.186000	0.72026	2.164000	0.68074	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	0	0	1	86	504	0	120	0	0	0	1	0	120	2		0	0	0	0	0	2	1	1	81	490	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNA2	1496	broad.mit.edu	37	2	80101316	80101316	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80101316G>A	ENST00000402739.4	+	5	705	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2			78					CCCAGATGTCGCCGCTACGAG	0.577000																								0							SO:0001583	missense			ENST00000402739.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.0	4.086571	0.76642	0.0	1.18E-4	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.75777	2.31	0.80722	D	1	D;D;D	0.63880	0.989;0.993;0.993	P;P;P	0.55999	0.789;0.684;0.768	T	0.53301	-0.8458	10	0.19147	T	0.46	.	19.8448	0.96704	0.0:0.0:1.0:0.0	.	234;234;234	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	234;234;268;234;234;234	ENSP00000418191:A234T;ENSP00000419295:A234T;ENSP00000355398:A268T;ENSP00000384638:A234T;ENSP00000444675:A234T;ENSP00000441705:A234T	ENSP00000355398:A268T	A	+	1	0	CTNNA2	79954824	1.000000	0.71417	0.742000	0.31022	0.816000	0.46133	9.869000	0.99810	2.686000	0.91538	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	1	0	1	78	300	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	78	294	0	78	2								-3.665347	1	1	121042	1	28	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRTM1	347730	broad.mit.edu	37	2	80529833	80529833	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80529833C>A	ENST00000295057.3	-	2	1768	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1			63					CAGGTGGCCGCTGGTGGGCTC	0.726000										HNSCC(69;0.2)														0							SO:0001583	missense			ENST00000295057.3	1	1	hg19	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111276	0.37242	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42131	0.98;0.98	5.32	5.32	0.75619	.	0.181583	0.47093	U	0.000241	T	0.26085	0.0636	N	0.08118	0	0.50813	D	0.999893	B	0.16396	0.017	B	0.12837	0.008	T	0.08513	-1.0718	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	371	Q86UE6	LRRT1_HUMAN	I	371	ENSP00000295057:S371I;ENSP00000386646:S371I	.	S	-	2	0	LRRTM1	80383344	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.825000	0.69286	2.452000	0.82932	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	1	0	1	51	163	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	50	160	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRTM1	347730	broad.mit.edu	37	2	80530750	80530750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530750G>A	ENST00000295057.3	-	2	851	c.195C>T	c.(193-195)tcC>tcT	p.S65S	LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1			63					CCAGCAGGCCGGACAGGTTGT	0.692000										HNSCC(69;0.2)														0							SO:0001819	synonymous_variant			ENST00000295057.3	1	1	hg19	CCDS1966.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	1	0	0	117	316	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	116	313	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRTM1	347730	broad.mit.edu	37	2	80530896	80530896	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530896G>A	ENST00000295057.3	-	2	705	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1			63					ACCCCCGAGGGCCTCCTCAGC	0.632000										HNSCC(69;0.2)														0							SO:0001583	missense			ENST00000295057.3	1	1	hg19	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988266	0.18966	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.53857	1.1;1.1;0.77;0.6;1.56	4.46	3.57	0.40892	.	0.070231	0.56097	U	0.000023	T	0.37073	0.0990	L	0.38175	1.15	0.52501	D	0.999957	P	0.38788	0.647	B	0.28553	0.091	T	0.12785	-1.0534	9	.	.	.	.	13.6624	0.62374	0.0:0.0:0.8437:0.1562	.	17	Q86UE6	LRRT1_HUMAN	S	17	ENSP00000295057:P17S;ENSP00000386646:P17S;ENSP00000415368:P17S;ENSP00000389473:P17S;ENSP00000404557:P17S	.	P	-	1	0	LRRTM1	80384407	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.979000	0.88103	0.847000	0.35167	0.185000	0.17295	CCC		TCGA-IB-7651-01A-11D-2154-08	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	1	0	0	76	225	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	74	217	0	62	2								-5.243973	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNA2	1496	broad.mit.edu	37	2	80646714	80646714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80646714C>T	ENST00000402739.4	+	8	1283	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000496558.1_Silent_p.N426N|CTNNA2_ENST00000466387.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000541047.1_Silent_p.N426N	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	p.N426K(3)		78					AGCATGCCAACAAACTGGTAG	0.433000																								3	Substitution - Missense(3)						SO:0001819	synonymous_variant			ENST00000402739.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	1	0	0	20	311	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	9.999944e-01	19	303	0	67	2								-19.999250	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.770000	0.490000	1.000000	1.000000	0.785339	0.770000	0	6.200000e-01	9.600000e-01
CTNNA2	1496	broad.mit.edu	37	2	80874927	80874927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80874927G>A	ENST00000402739.4	+	18	2797	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	p.G932A(1)|p.R883P(1)		78					CGAGTTCGACGAGGTTCTCAG	0.438000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000402739.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.439588	0.96168	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.51574	0.86;0.86;0.82;0.7;0.86;0.74;2.09	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.65637	0.2710	L	0.54323	1.7	0.58432	D	0.999994	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.68353	0.794;0.957;0.956;0.956	T	0.59799	-0.7386	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	515;931;838;883	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	883;883;917;931;883;838;562	ENSP00000418191:R883Q;ENSP00000419295:R883Q;ENSP00000355398:R917Q;ENSP00000384638:R931Q;ENSP00000444675:R883Q;ENSP00000441705:R838Q;ENSP00000341500:R562Q	.	R	+	2	0	CTNNA2	80728438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	1	0	1	143	783	0	170	0	0	0	1	0	170	2		0	0	0	0	0	2	1	1	142	771	0	168	2								-3.142789	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUCLG1	8802	broad.mit.edu	37	2	84668499	84668499	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668499C>A	ENST00000393868.2	-	4	613	c.403G>T	c.(403-405)Gca>Tca	p.A135S		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit			10				Succinic acid(DB00139)	GGAATTTCTGCCTCAATAGCT	0.473000													Ovarian(48;203 1101 37206 40305 50790)											0							SO:0001583	missense			ENST00000393868.2	1	1	hg19	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633051	0.87660	.	.	ENSG00000163541	ENST00000393868	D	0.85484	-1.99	5.59	5.59	0.84812	CoA-binding (2);NAD(P)-binding domain (1);	0.048024	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82823	2.61	0.80722	D	1	D;D	0.65815	0.995;0.965	D;D	0.87578	0.998;0.955	D	0.93114	0.6519	10	0.62326	D	0.03	4.4456	17.4491	0.87587	0.0:1.0:0.0:0.0	.	135;135	B7Z438;P53597	.;SUCA_HUMAN	S	135	ENSP00000377446:A135S	ENSP00000377446:A135S	A	-	1	0	SUCLG1	84522010	1.000000	0.71417	0.982000	0.44146	0.434000	0.31775	7.769000	0.85360	2.793000	0.96121	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	1	0	0	16	372	0	64	1	9.999170e-01	33	344	0	64	2		0	0	0	0	0	2	1	9.999355e-01	16	371	0	62	2								-16.130400	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.530000	0.310000	0.810000	0.520000	0.551644	0.530000	0	4.100000e-01	6.800000e-01
SUCLG1	8802	broad.mit.edu	37	2	84668576	84668576	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668576T>G	ENST00000393868.2	-	4	536	c.326A>C	c.(325-327)gAa>gCa	p.E109A		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit			10				Succinic acid(DB00139)	TCCTGTCTGTTCTTTGGCCTG	0.378000													Ovarian(48;203 1101 37206 40305 50790)											0							SO:0001583	missense			ENST00000393868.2	0	1	hg19	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613566	0.28712	.	.	ENSG00000163541	ENST00000393868	D	0.82893	-1.66	5.89	4.72	0.59763	CoA-binding (2);NAD(P)-binding domain (1);	0.143560	0.64402	N	0.000007	T	0.68265	0.2982	N	0.16201	0.385	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.005;0.007	T	0.59558	-0.7432	10	0.17832	T	0.49	-12.6	11.4718	0.50272	0.0:0.0:0.1508:0.8492	.	109;109	B7Z438;P53597	.;SUCA_HUMAN	A	109	ENSP00000377446:E109A	ENSP00000377446:E109A	E	-	2	0	SUCLG1	84522087	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	4.131000	0.57970	1.027000	0.39758	0.459000	0.35465	GAA		TCGA-IB-7651-01A-11D-2154-08	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	1	0	0	27	168	0	25	1	1	95	270	0	25	2		0	0	0	0	0	2	1	1	26	166	0	25	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999882	0.990000	1	9.900000e-01	1
TMSB10	9168	broad.mit.edu	37	2	85133188	85133188	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85133188C>T	ENST00000233143.4	+	2	156	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10			1					TTCGATAAGGCCAAGCTGAAG	0.582000																								0							SO:0001583	missense			ENST00000233143.4	1	1	hg19	CCDS1970.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516068	0.64634	.	.	ENSG00000034510	ENST00000233143	T	0.47177	0.85	5.3	5.3	0.74995	.	0.158802	0.40908	D	0.000995	T	0.43590	0.1254	.	.	.	0.40631	D	0.981859	P	0.38300	0.626	B	0.37650	0.255	T	0.42999	-0.9418	9	0.42905	T	0.14	.	16.4497	0.83976	0.0:1.0:0.0:0.0	.	16	P63313	TYB10_HUMAN	V	16	ENSP00000233143:A16V	ENSP00000233143:A16V	A	+	2	0	TMSB10	84986699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.760000	0.55235	2.486000	0.83907	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TMSB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252302.2	1	0	1	27	213	0	56	1	1	1955	5628	0	56	2		0	0	0	0	0	2	1	1	25	210	0	56	2								-3.221970	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.980000	1.000000	1.000000	0.997886	0.990000	1	9.900000e-01	1
TCF7L1	83439	broad.mit.edu	37	2	85532507	85532507	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85532507C>A	ENST00000282111.3	+	8	1245	c.970C>A	c.(970-972)Ctg>Atg	p.L324M		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)			18					ACCCCCCAGCCTGAGCCCTGC	0.652000																								0							SO:0001583	missense			ENST00000282111.3	1	1	hg19	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	6.159	0.397591	0.11638	.	.	ENSG00000152284	ENST00000282111	D	0.98280	-4.84	5.18	4.22	0.49857	.	0.260583	0.36519	N	0.002558	D	0.93119	0.7809	N	0.08118	0	0.28925	N	0.891913	B	0.10296	0.003	B	0.06405	0.002	D	0.87903	0.2692	10	0.46703	T	0.11	.	9.6936	0.40143	0.3492:0.6508:0.0:0.0	.	324	Q9HCS4	TF7L1_HUMAN	M	324	ENSP00000282111:L324M	ENSP00000282111:L324M	L	+	1	2	TCF7L1	85386018	0.915000	0.31059	1.000000	0.80357	0.043000	0.13939	0.246000	0.18160	2.401000	0.81631	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	0	0	0	12	274	0	43	1	5.293087e-01	2	38	0	43	2		0	0	0	0	0	2	1	9.989693e-01	12	264	0	41	2								-13.807030	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.540000	0.300000	0.880000	0.540000	0.569031	0.540000	0	4.100000e-01	7.200000e-01
TCF7L1	83439	broad.mit.edu	37	2	85536398	85536398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85536398C>T	ENST00000282111.3	+	12	1855	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)			18					TCGGCTAAGGCTGCAGCCTCC	0.692000																								0							SO:0001583	missense			ENST00000282111.3	1	1	hg19	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688751	0.48097	.	.	ENSG00000152284	ENST00000282111	D	0.98567	-5.0	5.36	3.56	0.40772	.	0.976044	0.08419	N	0.948663	D	0.95762	0.8621	L	0.40543	1.245	0.37249	D	0.906489	B	0.18310	0.027	B	0.08055	0.003	D	0.91369	0.5118	10	0.33141	T	0.24	.	9.1199	0.36780	0.0:0.7715:0.1479:0.0806	.	527	Q9HCS4	TF7L1_HUMAN	V	527	ENSP00000282111:A527V	ENSP00000282111:A527V	A	+	2	0	TCF7L1	85389909	1.000000	0.71417	0.777000	0.31699	0.606000	0.37113	6.588000	0.74076	0.829000	0.34733	-0.136000	0.14681	GCT		TCGA-IB-7651-01A-11D-2154-08	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	1	0	1	88	259	0	50	1	9.999350e-01	14	31	0	50	2		0	0	0	0	0	2	1	1	87	251	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RETSAT	54884	broad.mit.edu	37	2	85570385	85570385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85570385C>T	ENST00000295802.4	-	11	1925	c.1813G>A	c.(1813-1815)Gca>Aca	p.A605T	RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)			30				Vitamin A(DB00162)	TTCTTCTGTGCCCGGATCCTA	0.512000																								0							SO:0001583	missense			ENST00000295802.4	1	1	hg19	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	0.733	-0.779182	0.02929	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.22945	1.94;1.93	4.79	3.0	0.34707	.	0.908581	0.09485	N	0.795783	T	0.26412	0.0645	M	0.73598	2.24	0.09310	N	0.999998	B;B;B	0.19445	0.036;0.036;0.021	B;B;B	0.14023	0.01;0.01;0.008	T	0.39035	-0.9633	10	0.15499	T	0.54	-1.6443	6.3913	0.21589	0.0:0.7056:0.0:0.2944	.	544;544;605	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	T	605;544	ENSP00000295802:A605T;ENSP00000405040:A544T	ENSP00000295802:A605T	A	-	1	0	RETSAT	85423896	0.068000	0.21057	0.140000	0.22221	0.035000	0.12851	0.503000	0.22610	0.634000	0.30469	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	1	0	1	57	570	0	118	1	1	76	305	0	118	2		0	0	0	0	0	2	1	1	56	561	0	117	2								-15.625630	1	1	121412	2	31	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.890000	1.000000	1.000000	0.992475	0.990000	1	9.900000e-01	1
RETSAT	54884	broad.mit.edu	37	2	85578815	85578815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85578815C>T	ENST00000295802.4	-	2	455	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)			30				Vitamin A(DB00162)	GTGTCAAATTCAAGGCCATTC	0.507000																								0							SO:0001583	missense			ENST00000295802.4	1	1	hg19	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690342	0.96793	.	.	ENSG00000042445	ENST00000295802;ENST00000263854	T;T	0.58506	0.33;0.33	5.38	5.38	0.77491	.	0.056021	0.64402	D	0.000001	T	0.55986	0.1955	N	0.10945	0.07	0.80722	D	1	P	0.48503	0.911	P	0.57244	0.816	T	0.63857	-0.6542	10	0.62326	D	0.03	-13.4847	16.6368	0.85061	0.0:1.0:0.0:0.0	.	115	Q6NUM9	RETST_HUMAN	K	115	ENSP00000295802:E115K;ENSP00000263854:E115K	ENSP00000263854:E115K	E	-	1	0	RETSAT	85432326	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.637000	0.83313	2.532000	0.85374	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	0	0	1	166	473	0	107	1	1	168	233	0	107	2		0	0	0	0	0	2	1	1	163	447	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELMOD3	84173	broad.mit.edu	37	2	85598230	85598230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85598230C>T	ENST00000409890.2	+	9	1049	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000315658.7_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*|RN7SL113P_ENST00000497900.2_RNA			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3			12					GCCAACTATTCGAAGGACTGG	0.547000																								0							SO:0001587	stop_gained			ENST00000409890.2	0	1	hg19	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	42	9.801465	0.99267	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	.	.	.	5.82	5.82	0.92795	.	0.188144	0.46442	D	0.000292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-7.6175	17.5939	0.88005	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000318264:R128X	R	+	1	2	ELMOD3	85451741	1.000000	0.71417	0.983000	0.44433	0.954000	0.61252	6.823000	0.75282	2.760000	0.94817	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	0	0	0	38	1023	0	184	1	6.688153e-01	5	58	0	184	2		0	0	0	0	0	2	1	1	38	1004	0	184	2								-3.371590	1	1	121412	3	38	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.450000	0.320000	0.610000	0.450000	0.466883	0.450000	0	3.800000e-01	5.400000e-01
GGCX	2677	broad.mit.edu	37	2	85780133	85780133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85780133G>A	ENST00000233838.4	-	9	1296	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	GGCX_ENST00000430215.3_Missense_Mutation_p.R349C|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase			15				Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TGGTGGGAGCGGGAGTGCACC	0.542000																								0							SO:0001583	missense			ENST00000233838.4	1	1	hg19	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359350	0.82353	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.93488	-3.23;-3.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.76071	0.987;0.905;0.964	D	0.96178	0.9128	10	0.56958	D	0.05	-17.0852	16.974	0.86309	0.0:0.0:1.0:0.0	.	349;245;406	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	406;349	ENSP00000233838:R406C;ENSP00000408045:R349C	ENSP00000233838:R406C	R	-	1	0	GGCX	85633644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.033000	0.93741	2.601000	0.87937	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	1	0	1	99	540	0	114	1	9.999949e-01	28	67	0	114	2		0	0	0	0	0	2	1	1	97	533	0	114	2								-2.288213	0	1	121412	1	37	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM150A	129303	broad.mit.edu	37	2	85826704	85826704	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85826704G>T	ENST00000409668.1	-	6	985	c.518C>A	c.(517-519)gCt>gAt	p.A173D	TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D|TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D			Q86TG1	T150A_HUMAN	transmembrane protein 150A			7					ATAGGCCACAGCCAGGTCCAG	0.612000																								0							SO:0001583	missense			ENST00000409668.1	1	1	hg19	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784993	0.31593	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668	T;T;T	0.44083	0.93;0.93;0.93	5.23	4.35	0.52113	.	0.105109	0.64402	D	0.000002	T	0.32285	0.0824	L	0.47716	1.5	0.26903	N	0.967064	P;B	0.39404	0.672;0.154	B;B	0.35073	0.195;0.124	T	0.13072	-1.0523	10	0.18710	T	0.47	-31.071	11.5548	0.50741	0.0878:0.0:0.9122:0.0	.	120;173	Q86TG1-2;Q86TG1	.;T150A_HUMAN	D	120;173;173	ENSP00000302715:A120D;ENSP00000334708:A173D;ENSP00000387292:A173D	ENSP00000302715:A120D	A	-	2	0	TMEM150A	85680215	0.923000	0.31300	0.960000	0.40013	0.986000	0.74619	1.599000	0.36751	1.200000	0.43188	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	1	0	1	112	317	0	92	1	1	41	113	0	92	2		0	0	0	0	0	2	1	1	109	313	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM150A	129303	broad.mit.edu	37	2	85827121	85827121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85827121G>A	ENST00000409668.1	-	5	756	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	TMEM150A_ENST00000306353.3_Missense_Mutation_p.R44C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.R97C			Q86TG1	T150A_HUMAN	transmembrane protein 150A			7					TGCCCGTAGCGCAGGAGGCAG	0.652000																								0							SO:0001583	missense			ENST00000409668.1	0	1	hg19	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195609	0.78902	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668;ENST00000425160	T;T;T	0.51817	0.69;0.69;0.69	5.79	5.79	0.91817	.	0.048755	0.85682	D	0.000000	T	0.72930	0.3522	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.68943	0.629;0.961	T	0.78545	-0.2163	10	0.87932	D	0	-40.4071	12.4743	0.55803	0.0:0.0:0.8329:0.1671	.	44;97	Q86TG1-2;Q86TG1	.;T150A_HUMAN	C	44;97;97;44	ENSP00000302715:R44C;ENSP00000334708:R97C;ENSP00000387292:R97C	ENSP00000302715:R44C	R	-	1	0	TMEM150A	85680632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.736000	0.93811	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	0	0	0	9	329	0	49	1	6.156481e-01	2	72	0	49	2		0	0	0	0	0	2	1	9.937253e-01	9	321	0	48	2								-3.680646	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.350000	0.170000	0.610000	0.330000	0.371823	0.350000	0	2.500000e-01	4.800000e-01
SFTPB	6439	broad.mit.edu	37	2	85890797	85890797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85890797G>A	ENST00000519937.2	-	7	865	c.846C>T	c.(844-846)agC>agT	p.S282S	SFTPB_ENST00000393822.3_Silent_p.S294S|SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000342375.3_Silent_p.S282S			P07988	PSPB_HUMAN	surfactant protein B			16					TTGGGCCAGCGCTGTCATCCA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000519937.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.191	0.034165	0.08101	.	.	ENSG00000168878	ENST00000428225	.	.	.	5.24	1.4	0.22301	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	2.0E-4	4.0805	0.09924	0.2665:0.0:0.571:0.1625	.	.	.	.	C	279	.	.	R	-	1	0	SFTPB	85744308	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.400000	0.20932	-0.020000	0.14032	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	1	0	1	31	62	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1	29	60	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR1A	25885	broad.mit.edu	37	2	86266459	86266459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86266459G>T	ENST00000263857.6	-	26	4245	c.3867C>A	c.(3865-3867)tgC>tgA	p.C1289*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa			63					CCTCCCCCAAGCACACCCTGG	0.537000																								0							SO:0001587	stop_gained			ENST00000263857.6	0	1	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	45	11.307215	0.99545	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-24.0429	14.2295	0.65882	0.0724:0.0:0.9276:0.0	.	.	.	.	X	1289	.	ENSP00000263857:C1289X	C	-	3	2	POLR1A	86119970	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.664000	0.54525	1.373000	0.46208	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	1	0	1	199	1066	0	225	1	9.970336e-01	2	46	0	225	2		0	0	0	0	0	2	1	1	197	1043	0	222	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR1A	25885	broad.mit.edu	37	2	86281383	86281383	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86281383G>T	ENST00000263857.6	-	15	2466	c.2088C>A	c.(2086-2088)atC>atA	p.I696I	POLR1A_ENST00000409681.1_Silent_p.I696I|POLR1A_ENST00000483538.1_5'UTR			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa			63					GGTCCTCTGGGATTATATTTA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000263857.6	1	1	hg19	CCDS42706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	1	0	1	42	145	0	44	1	9.974790e-01	2	33	0	44	2		0	0	0	0	0	2	1	1	42	143	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR1A	25885	broad.mit.edu	37	2	86302248	86302248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86302248C>T	ENST00000263857.6	-	12	1894	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A506T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa			63					GCGCTCAGGGCTGTGCGGCTG	0.602000																								0							SO:0001583	missense			ENST00000263857.6	0	1	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513454	0.44660	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.65916	-0.18;-0.18	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.221836	0.46758	D	0.000277	T	0.46658	0.1404	N	0.17474	0.49	0.32586	N	0.527869	P	0.36086	0.536	B	0.42738	0.396	T	0.52396	-0.8581	10	0.14252	T	0.57	-23.0664	8.9405	0.35727	0.0:0.8361:0.0:0.1639	.	506	O95602	RPA1_HUMAN	T	506	ENSP00000263857:A506T;ENSP00000386300:A506T	ENSP00000263857:A506T	A	-	1	0	POLR1A	86155759	0.994000	0.37717	0.947000	0.38551	0.872000	0.50106	2.731000	0.47343	2.606000	0.88127	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	0	0	0	7	141	0	22	0	2.505930e-01	0	18	0	22	2		0	0	0	0	0	2	1	9.809576e-01	7	140	0	22	2								-10.393040	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.630000	0.280000	1.000000	1.000000	0.654005	0.630000	0	4.300000e-01	8.800000e-01
POLR1A	25885	broad.mit.edu	37	2	86310237	86310237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86310237C>T	ENST00000263857.6	-	7	1163	c.785G>A	c.(784-786)cGc>cAc	p.R262H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa			63					AAGGTGTTCGCGGGCACTGGT	0.453000																								0							SO:0001583	missense			ENST00000263857.6	1	1	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450496	0.63290	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68331	-0.32;-0.32	5.87	2.42	0.29668	RNA polymerase Rpb1, domain 1 (1);	0.328020	0.31660	N	0.007274	T	0.77370	0.4120	M	0.77616	2.38	0.37966	D	0.933144	D;D	0.76494	0.999;0.995	D;D	0.67900	0.954;0.924	T	0.76828	-0.2815	10	0.52906	T	0.07	-2.0575	8.4647	0.32949	0.0:0.4019:0.0:0.5981	.	262;262	B9ZVN9;O95602	.;RPA1_HUMAN	H	262	ENSP00000263857:R262H;ENSP00000386300:R262H	ENSP00000263857:R262H	R	-	2	0	POLR1A	86163748	0.591000	0.26824	0.563000	0.28383	0.945000	0.59286	0.222000	0.17699	0.151000	0.19162	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	1	0	1	70	222	0	61	1	9.942901e-01	10	18	0	61	2		0	0	0	0	0	2	1	1	69	217	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLR1A	25885	broad.mit.edu	37	2	86325797	86325797	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86325797C>T	ENST00000263857.6	-	3	747	c.369G>A	c.(367-369)caG>caA	p.Q123Q	POLR1A_ENST00000409681.1_Silent_p.Q123Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa			63					GAACCCTCAGCTGGCAGAGTA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000263857.6	1	1	hg19	CCDS42706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	1	0	1	207	917	0	213	1	9.312172e-01	2	20	0	213	2		0	0	0	0	0	2	1	1	203	898	0	209	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTCD3	55037	broad.mit.edu	37	2	86354302	86354302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86354302G>A	ENST00000254630.7	+	13	1036	c.970G>A	c.(970-972)Gtt>Att	p.V324I	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3			22					AAGACACATGGTTGCACAGAA	0.368000																								0							SO:0001583	missense			ENST00000254630.7	1	1	hg19	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503453	0.44558	.	.	ENSG00000132300	ENST00000254630	T	0.30714	1.52	6.17	3.38	0.38709	.	0.778290	0.13001	N	0.421650	T	0.21550	0.0519	L	0.35341	1.055	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.03829	-1.1000	10	0.21014	T	0.42	-3.1906	8.4877	0.33082	0.1352:0.0:0.7394:0.1253	.	324	Q96EY7	PTCD3_HUMAN	I	324	ENSP00000254630:V324I	ENSP00000254630:V324I	V	+	1	0	PTCD3	86207813	0.996000	0.38824	0.978000	0.43139	0.963000	0.63663	2.311000	0.43717	0.922000	0.37019	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	1	0	1	33	271	0	54	1	9.995821e-01	26	74	0	54	2		0	0	0	0	0	2	1	1	33	269	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.980000	1.000000	1.000000	0.998080	0.990000	1	9.900000e-01	1
IMMT	10989	broad.mit.edu	37	2	86371725	86371725	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86371725A>G	ENST00000410111.3	-	15	2330	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	IMMT_ENST00000449247.2_Missense_Mutation_p.I637T|IMMT_ENST00000254636.5_Missense_Mutation_p.I549T|IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000409051.2_Missense_Mutation_p.I601T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial			30					GGTTTCATCAATCATTGCTAC	0.532000																								0							SO:0001583	missense			ENST00000410111.3	1	1	hg19	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894088	0.52121	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.39	4.24	0.50183	.	0.094982	0.64402	N	0.000001	T	0.58779	0.2146	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.994;0.995;0.991;0.982;0.995	T	0.62685	-0.6802	10	0.87932	D	0	-7.5923	11.2772	0.49174	0.9289:0.0:0.0711:0.0	.	601;636;637;616;648	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891	.;.;.;.;IMMT_HUMAN	T	549;637;648;647;601;637;616;262;549	ENSP00000254636:I549T;ENSP00000396899:I637T;ENSP00000387262:I648T;ENSP00000407788:I647T;ENSP00000387227:I601T	ENSP00000254636:I549T	I	-	2	0	IMMT	86225236	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	9.139000	0.94554	1.075000	0.40932	0.529000	0.55759	ATT		TCGA-IB-7651-01A-11D-2154-08	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	1	0	1	93	541	0	122	1	1	65	272	0	122	2		0	0	0	0	0	2	1	1	92	529	0	121	2								-20.000000	1	1	120860	1	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REEP1	65055	broad.mit.edu	37	2	86459903	86459903	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86459903C>A	ENST00000165698.5	-	6	583	c.440G>T	c.(439-441)aGa>aTa	p.R147I	REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I|REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000538924.1_Missense_Mutation_p.R154I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1			13					GCTCCGCAGTCTCTCCGATAA	0.667000																								0							SO:0001583	missense			ENST00000165698.5	1	1	hg19	CCDS1989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765722|4.765722	0.90020|0.90020	.|.	.|.	ENSG00000068615|ENSG00000068615	ENST00000541910;ENST00000437769|ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231;ENST00000428491	D;D|D;D;D;D;D;D	0.93604|0.88664	-3.25;-3.22|-2.39;-2.41;-1.56;-1.56;-2.38;-1.67	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.045059	.|0.85682	.|D	.|0.000000	D|D	0.91895|0.91895	0.7434|0.7434	M|M	0.61703|0.61703	1.905|1.905	0.54753|0.54753	D|D	0.999988|0.999988	D|P;D;P	0.61080|0.52996	0.989|0.928;0.957;0.928	P|P;P;P	0.55667|0.56960	0.781|0.65;0.81;0.753	D|D	0.89980|0.89980	0.4100|0.4100	9|10	0.87932|0.32370	D|T	0|0.25	.|.	17.0395|17.0395	0.86484|0.86484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69|120;126;147	B7Z4D7|B7Z5R9;F5H7Z9;Q9H902	.|.;.;REEP1_HUMAN	Y|I	69|147;154;120;126;154;120	ENSP00000442681:D69Y;ENSP00000401140:D69Y|ENSP00000165698:R147I;ENSP00000438346:R154I;ENSP00000437567:R120I;ENSP00000443831:R126I;ENSP00000392197:R154I;ENSP00000400607:R120I	ENSP00000401140:D69Y|ENSP00000165698:R147I	D|R	-|-	1|2	0|0	REEP1|REEP1	86313414|86313414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.875000|3.875000	0.56108|0.56108	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAC|AGA		TCGA-IB-7651-01A-11D-2154-08	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	1	0	1	61	161	0	41	1	9.963661e-01	16	10	0	41	2		0	0	0	0	0	2	1	1	61	161	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM3A	55818	broad.mit.edu	37	2	86716673	86716673	+	Missense_Mutation	SNP	C	C	A	rs149432098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86716673C>A	ENST00000409556.1	+	24	3829	c.3464C>A	c.(3463-3465)tCt>tAt	p.S1155Y	KDM3A_ENST00000542128.1_Missense_Mutation_p.S1103Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A			47					GATGGAGATTCTGACGAACTC	0.438000													NSCLC(96;1150 1523 6936 46253 49736)											0							SO:0001583	missense			ENST00000409556.1	1	1	hg19	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982435	0.74474	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.4	4.47	0.54385	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.166790	0.42682	D	0.000664	T	0.74566	0.3733	N	0.19112	0.55	0.43377	D	0.995473	D;D	0.58970	0.984;0.984	P;P	0.61592	0.891;0.861	T	0.75439	-0.3317	10	0.42905	T	0.14	.	15.8767	0.79170	0.0:0.8649:0.1351:0.0	.	1103;1155	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Y	1155;1155;1155;1155;1103	ENSP00000386660:S1155Y;ENSP00000323659:S1155Y;ENSP00000386516:S1155Y;ENSP00000438324:S1103Y	ENSP00000323659:S1155Y	S	+	2	0	KDM3A	86570184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.604000	0.61112	2.692000	0.91855	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	0	0	0	12	316	0	50	1	9.653049e-01	4	148	0	50	2		0	0	0	0	0	2	1	9.990588e-01	11	311	0	50	2								-12.756730	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.470000	0.260000	0.770000	0.460000	0.497801	0.470000	0	3.500000e-01	6.300000e-01
RNF103	7844	broad.mit.edu	37	2	86831267	86831267	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831267C>A	ENST00000237455.4	-	4	2725	c.1757G>T	c.(1756-1758)aGc>aTc	p.S586I	AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'Flank|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103			25					TTCACATGGGCTGGTCTGACA	0.423000																								0							SO:0001583	missense			ENST00000237455.4	1	1	hg19	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	7.136	0.580949	0.13686	.	.	ENSG00000239305	ENST00000237455	T	0.45668	0.89	5.51	4.63	0.57726	.	0.566379	0.20534	N	0.090448	T	0.29028	0.0721	N	0.22421	0.69	0.35951	D	0.833929	B	0.19583	0.037	B	0.17433	0.018	T	0.25882	-1.0119	10	0.49607	T	0.09	-1.1683	9.7379	0.40399	0.0:0.8259:0.0:0.1741	.	586	O00237	RN103_HUMAN	I	586	ENSP00000237455:S586I	ENSP00000237455:S586I	S	-	2	0	RNF103	86684778	0.861000	0.29849	0.998000	0.56505	0.363000	0.29612	1.594000	0.36697	1.329000	0.45376	0.460000	0.39030	AGC		TCGA-IB-7651-01A-11D-2154-08	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	1	0	1	284	837	0	212	1	1	133	186	0	212	2		0	0	0	0	0	2	1	1	277	826	0	211	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF103	7844	broad.mit.edu	37	2	86831816	86831816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831816G>T	ENST00000237455.4	-	4	2176	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103			25					TACCCATGAAGCCAGTGTGGT	0.398000																								0							SO:0001583	missense			ENST00000237455.4	1	1	hg19	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882521	0.72294	.	.	ENSG00000239305	ENST00000237455	T	0.50277	0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70193	-0.4939	10	0.87932	D	0	-14.2447	19.5934	0.95525	0.0:0.0:1.0:0.0	.	403	O00237	RN103_HUMAN	D	403	ENSP00000237455:A403D	ENSP00000237455:A403D	A	-	2	0	RNF103	86685327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.490000	0.97952	2.641000	0.89580	0.460000	0.39030	GCT		TCGA-IB-7651-01A-11D-2154-08	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	1	0	1	65	317	0	65	1	1	73	184	0	65	2		0	0	0	0	0	2	1	1	65	312	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RMND5A	64795	broad.mit.edu	37	2	87000470	87000470	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:87000470G>A	ENST00000283632.4	+	9	1607		c.e9-1		RMND5A_ENST00000472843.1_Splice_Site	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)			17					TTTGTCTTTAGATTAAAATGT	0.328000																								0							SO:0001630	splice_region_variant			ENST00000283632.4	1	1	hg19	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338521	0.41398	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.28	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1808	0.65574	0.0725:0.0:0.9275:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RMND5A	86853981	1.000000	0.71417	0.981000	0.43875	0.677000	0.39632	9.468000	0.97676	1.377000	0.46286	-0.251000	0.11542	.		TCGA-IB-7651-01A-11D-2154-08	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	1	0	1	46	252	0	54	1	5.776365e-01	12	0	0	54	2		0	0	0	0	0	2	1	1	45	248	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRCC1	51315	broad.mit.edu	37	2	88328012	88328012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328012G>A	ENST00000347055.3	-	4	464	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1			7					TAAGCCTCTGGCTTTCTGTAC	0.378000																								0							SO:0001583	missense			ENST00000347055.3	1	1	hg19	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	25.2	4.613043	0.87258	.	.	ENSG00000172086	ENST00000347055	T	0.54479	0.57	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.72070	0.3415	M	0.69463	2.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73538	-0.3951	10	0.87932	D	0	-1.79	17.6132	0.88060	0.0:0.0:1.0:0.0	.	24	Q9NPI7	KRCC1_HUMAN	V	24	ENSP00000340083:A24V	ENSP00000340083:A24V	A	-	2	0	KRCC1	88109127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.961000	0.76042	2.759000	0.94783	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	1	0	1	73	264	0	45	1	1	50	102	0	45	2		0	0	0	0	0	2	1	1	73	253	0	45	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRCC1	51315	broad.mit.edu	37	2	88328060	88328060	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328060T>C	ENST00000347055.3	-	4	416	c.23A>G	c.(22-24)tAt>tGt	p.Y8C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1			7					AAAAGAGTCATATGTCTTCTT	0.363000																								0							SO:0001583	missense			ENST00000347055.3	1	1	hg19	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	15.72	2.915994	0.52546	.	.	ENSG00000172086	ENST00000347055	T	0.38560	1.13	5.99	1.73	0.24493	.	0.366091	0.24720	N	0.036157	T	0.57110	0.2031	M	0.75777	2.31	0.44995	D	0.998013	D	0.89917	1.0	D	0.66497	0.944	T	0.57283	-0.7838	10	0.72032	D	0.01	.	8.1035	0.30872	0.1264:0.0:0.2328:0.6408	.	8	Q9NPI7	KRCC1_HUMAN	C	8	ENSP00000340083:Y8C	ENSP00000340083:Y8C	Y	-	2	0	KRCC1	88109175	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.751000	0.38339	0.477000	0.27464	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	1	0	1	54	217	0	43	1	1	39	68	0	43	2		0	0	0	0	0	2	1	1	52	207	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMYD1	150572	broad.mit.edu	37	2	88383924	88383924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88383924G>A	ENST00000419482.2	+	2	312	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR|MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000444564.2_Missense_Mutation_p.R76H	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1			41					TACTGCGACCGCACCTGCCAG	0.522000																								0							SO:0001583	missense			ENST00000419482.2	1	1	hg19	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173281	0.94807	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.15718	2.4;2.4;2.4	5.63	5.63	0.86233	SET domain (2);Zinc finger, MYND-type (3);	0.057799	0.64402	D	0.000002	T	0.46268	0.1384	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65773	0.938;0.91	T	0.45145	-0.9281	10	0.56958	D	0.05	-22.6217	18.6665	0.91492	0.0:0.0:1.0:0.0	.	76;76	Q8NB12;C9JUP3	SMYD1_HUMAN;.	H	76	ENSP00000393453:R76H;ENSP00000407888:R76H;ENSP00000387482:R76H	ENSP00000393453:R76H	R	+	2	0	SMYD1	88165039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.655000	0.90218	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	1	0	1	98	371	0	92	0	4.434371e-02	0	2	0	92	2		0	0	0	0	0	2	1	1	98	364	0	92	2								-3.269091	1	1	121412	2	34	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMYD1	150572	broad.mit.edu	37	2	88387540	88387540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88387540G>A	ENST00000419482.2	+	3	559	c.474G>A	c.(472-474)tgG>tgA	p.W158*	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Nonsense_Mutation_p.W158*	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1			41					TGCAGTACTGGCCGCCGCAGA	0.607000																								0							SO:0001587	stop_gained			ENST00000419482.2	0	1	hg19	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	37	6.020194	0.97211	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5508	17.7216	0.88353	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000393453:W158X	W	+	3	0	SMYD1	88168655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.481000	0.83766	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	1	0	1	95	299	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	95	291	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMYD1	150572	broad.mit.edu	37	2	88405903	88405903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88405903C>T	ENST00000419482.2	+	8	1126	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.N334N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1			41					CTGACACCAACATCTACATGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000419482.2	1	1	hg19	CCDS33240.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	1	0	1	46	233	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	45	227	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THNSL2	55258	broad.mit.edu	37	2	88474333	88474333	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88474333G>A	ENST00000324166.5	+	2	2090	c.399G>A	c.(397-399)aaG>aaA	p.K133K	THNSL2_ENST00000358591.2_Silent_p.K133K|THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Silent_p.K133K|THNSL2_ENST00000449349.1_Silent_p.K101K|THNSL2_ENST00000402102.1_Silent_p.K133K	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)			27					AGAGGGAGAAGCACGTCACTG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000324166.5	1	1	hg19	CCDS2002.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	1	0	1	102	327	0	84	0	9.929041e-01	0	27	0	84	2		0	0	0	0	0	2	1	1	100	317	0	84	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THNSL2	55258	broad.mit.edu	37	2	88482594	88482594	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88482594T>G	ENST00000324166.5	+	6	2768		c.e6+2		THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Splice_Site	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)			27					CACAGCAAGGTCAGTCACTAC	0.527000																								0							SO:0001630	splice_region_variant			ENST00000324166.5	1	1	hg19	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319031	0.41096	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2669	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	THNSL2	88263709	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	6.965000	0.76067	2.210000	0.71456	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	1	0	1	43	166	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	1	43	164	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THNSL2	55258	broad.mit.edu	37	2	88485522	88485522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88485522G>A	ENST00000324166.5	+	8	3026	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	THNSL2_ENST00000358591.2_Silent_p.E445E|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000449349.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)			27					TAGCCCTGGAGCACAAGGAGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000324166.5	1	1	hg19	CCDS2002.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	1	0	1	24	67	0	23	0	9.955928e-01	0	28	0	23	2		0	0	0	0	0	2	1	9.999999e-01	23	66	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIDINS220	57498	broad.mit.edu	37	2	8871069	8871069	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000427284.1_Silent_p.F1680F|KIDINS220_ENST00000473731.1_Silent_p.F1680F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa			60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CCATCTCATCGAAATTTTGAT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000256707.3	1	1	hg19	CCDS42650.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	0	85	254	0	58	1	1	47	143	0	58	2		0	0	0	0	0	2	1	1	85	245	0	57	2								-20.000000	1	1	120864	9	41	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIDINS220	57498	broad.mit.edu	37	2	8871237	8871237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871237C>T	ENST00000256707.3	-	30	5110	c.4929G>A	c.(4927-4929)atG>atA	p.M1643I	KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa			60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				AACAAATGGACATCCGAGCTA	0.493000																								0							SO:0001583	missense			ENST00000256707.3	1	1	hg19	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891470	0.91889	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.69685	-0.41;-0.41;-0.42;-0.41	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.60575	0.979;0.964;0.988	D;D;D	0.73708	0.981;0.968;0.981	T	0.77169	-0.2686	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1544;1643;497	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	I	1643;1624;1544;1624	ENSP00000256707:M1643I;ENSP00000411849:M1624I;ENSP00000414923:M1544I;ENSP00000418974:M1624I	ENSP00000256707:M1643I	M	-	3	0	KIDINS220	8788688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.283000	0.78640	2.861000	0.98227	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1	68	317	0	63	1	1	26	160	0	63	2		0	0	0	0	0	2	1	1	66	314	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIDINS220	57498	broad.mit.edu	37	2	8871626	8871626	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871626G>A	ENST00000256707.3	-	30	4721	c.4540C>T	c.(4540-4542)Ctg>Ttg	p.L1514L	KIDINS220_ENST00000418530.1_Silent_p.L1415L|KIDINS220_ENST00000427284.1_Silent_p.L1495L|KIDINS220_ENST00000473731.1_Silent_p.L1495L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa			60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				TGATAGCGCAGCCCACTTCCC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000256707.3	1	1	hg19	CCDS42650.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1	60	315	0	58	1	1	31	152	0	58	2		0	0	0	0	0	2	1	1	58	306	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF2AK3	9451	broad.mit.edu	37	2	88857381	88857381	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88857381G>T	ENST00000303236.3	-	17	3525	c.3224C>A	c.(3223-3225)gCt>gAt	p.A1075D	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A924D|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3			3					CTCAAATACAGCATTTTCAAT	0.413000													GBM(138;671 1851 16235 39058 45249)											0							SO:0001583	missense			ENST00000303236.3	0	1	hg19	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505624	0.64410	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73897	2.11;2.11;-0.79	5.65	5.65	0.86999	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.251518	0.39909	N	0.001238	T	0.57902	0.2085	N	0.08118	0	0.45791	D	0.998673	B	0.15930	0.015	B	0.12156	0.007	T	0.53143	-0.8480	10	0.15952	T	0.53	-9.8721	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1075	Q9NZJ5	E2AK3_HUMAN	D	924;1075;924;954	ENSP00000408325:A924D;ENSP00000307235:A1075D;ENSP00000412076:A954D	ENSP00000307235:A1075D	A	-	2	0	EIF2AK3	88638496	1.000000	0.71417	0.185000	0.23176	0.697000	0.40408	7.825000	0.86693	2.824000	0.97209	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	0	0	0	19	759	0	126	1	8.620706e-01	7	136	0	126	2		0	0	0	0	0	2	1	9.999898e-01	19	753	0	125	2								-2.847827	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.310000	0.190000	0.470000	0.300000	0.325929	0.310000	0	2.400000e-01	4.000000e-01
EIF2AK3	9451	broad.mit.edu	37	2	88874373	88874373	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874373C>A	ENST00000303236.3	-	13	2929	c.2628G>T	c.(2626-2628)caG>caT	p.Q876H	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3			3					GTGAACTGGGCTGGAGTTTTT	0.408000													GBM(138;671 1851 16235 39058 45249)											0							SO:0001583	missense			ENST00000303236.3	1	1	hg19	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443500	0.43429	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74842	-0.76;-0.7;-0.88	5.56	4.68	0.58851	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.446433	0.24662	N	0.036625	T	0.44871	0.1314	N	0.01576	-0.805	0.41466	D	0.988071	B	0.11235	0.004	B	0.09377	0.004	T	0.37663	-0.9696	10	0.13853	T	0.58	-10.8257	11.0365	0.47804	0.1293:0.8023:0.0:0.0684	.	876	Q9NZJ5	E2AK3_HUMAN	H	725;876;725;755	ENSP00000408325:Q725H;ENSP00000307235:Q876H;ENSP00000412076:Q755H	ENSP00000307235:Q876H	Q	-	3	2	EIF2AK3	88655488	0.967000	0.33354	1.000000	0.80357	0.994000	0.84299	0.032000	0.13732	1.344000	0.45657	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	0	0	0	24	896	0	156	1	9.656483e-01	17	189	0	156	2		0	0	0	0	0	2	1	9.999995e-01	24	873	0	154	2								-2.682838	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.330000	0.210000	0.480000	0.330000	0.344888	0.330000	0	2.700000e-01	4.100000e-01
EIF2AK3	9451	broad.mit.edu	37	2	88874864	88874864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874864C>A	ENST00000303236.3	-	13	2438	c.2137G>T	c.(2137-2139)Gct>Tct	p.A713S	EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3			3					GGTGAAGGAGCTATGATTTCA	0.448000													GBM(138;671 1851 16235 39058 45249)											0							SO:0001583	missense			ENST00000303236.3	1	1	hg19	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685924	0.47991	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.73469	-0.63;-0.57;-0.75	6.06	6.06	0.98353	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159141	0.56097	D	0.000022	T	0.59376	0.2189	L	0.28740	0.885	0.47737	D	0.999505	B	0.18741	0.03	B	0.15484	0.013	T	0.53387	-0.8446	10	0.10902	T	0.67	-23.204	10.8679	0.46866	0.0:0.8611:0.0:0.1389	.	713	Q9NZJ5	E2AK3_HUMAN	S	562;713;562;592	ENSP00000408325:A562S;ENSP00000307235:A713S;ENSP00000412076:A592S	ENSP00000307235:A713S	A	-	1	0	EIF2AK3	88655979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.988000	0.29616	2.882000	0.98803	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	0	0	1	265	756	1	184	1	1	30	96	1	184	5		0	0	0	0	0	2	1	1	264	739	1	181	19								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF2AK3	9451	broad.mit.edu	37	2	88890358	88890358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88890358C>T	ENST00000303236.3	-	5	1281	c.980G>A	c.(979-981)gGa>gAa	p.G327E	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3			3					TTCCAGATGTCCTCCCTTCTT	0.433000													GBM(138;671 1851 16235 39058 45249)											0							SO:0001583	missense			ENST00000303236.3	1	1	hg19	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972414	0.34848	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.049969	0.85682	D	0.000000	T	0.79793	0.4507	L	0.56396	1.775	0.54753	D	0.999985	D	0.89917	1.0	D	0.74348	0.983	T	0.74922	-0.3499	10	0.31617	T	0.26	-28.1707	20.2147	0.98293	0.0:1.0:0.0:0.0	.	327	Q9NZJ5	E2AK3_HUMAN	E	176;327;176;206	ENSP00000408325:G176E;ENSP00000307235:G327E;ENSP00000412076:G206E	ENSP00000307235:G327E	G	-	2	0	EIF2AK3	88671473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.284000	0.58983	2.785000	0.95823	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	1	0	0	43	524	0	97	1	9.975538e-01	8	104	0	97	2		0	0	0	0	0	2	1	1	41	514	0	97	2								-10.644060	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.960000	0.710000	1.000000	1.000000	0.933169	0.960000	1	8.300000e-01	1
KIDINS220	57498	broad.mit.edu	37	2	8910878	8910878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8910878C>T	ENST00000256707.3	-	22	3114	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa			60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CCATGAAGTCCGGTATGGCCA	0.398000																								0							SO:0001583	missense			ENST00000256707.3	1	1	hg19	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436799	0.96168	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.80566	-0.31;-1.39;-1.32;-1.17;-1.32;-1.32;-1.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.91635	0.921;0.999;0.999;0.997	D	0.92224	0.5787	10	0.87932	D	0	.	19.2476	0.93908	0.0:1.0:0.0:0.0	.	979;979;936;978	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Q	725;662;978;978;936;978;979;979	ENSP00000420364:R725Q;ENSP00000256707:R978Q;ENSP00000411849:R978Q;ENSP00000414923:R936Q;ENSP00000418974:R978Q;ENSP00000419964:R979Q;ENSP00000319947:R979Q	ENSP00000256707:R978Q	R	-	2	0	KIDINS220	8828329	1.000000	0.71417	0.814000	0.32528	0.955000	0.61496	7.334000	0.79224	2.531000	0.85337	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1	101	247	0	46	1	1	26	109	0	46	2		0	0	0	0	0	2	1	1	99	243	0	45	2								-7.244131	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIDINS220	57498	broad.mit.edu	37	2	8926341	8926341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926341G>T	ENST00000256707.3	-	16	2115	c.1934C>A	c.(1933-1935)aCt>aAt	p.T645N	KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa			60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				CCTACCCTGAGTATCTTCAGT	0.423000																								0							SO:0001583	missense			ENST00000256707.3	1	0	hg19	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554050	0.45487	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.96	5.07	0.68467	KAP P-loop (1);	0.483087	0.25283	N	0.031782	T	0.32763	0.0840	L	0.34521	1.04	0.19300	N	0.999978	B;B;B;B	0.18610	0.029;0.025;0.02;0.025	B;B;B;B	0.34779	0.081;0.189;0.095;0.121	T	0.35400	-0.9790	10	0.51188	T	0.08	.	17.024	0.86440	0.0:0.1274:0.8726:0.0	.	646;646;603;645	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	N	392;329;645;645;603;645;646;646	ENSP00000420364:T392N;ENSP00000256707:T645N;ENSP00000411849:T645N;ENSP00000414923:T603N;ENSP00000418974:T645N;ENSP00000419964:T646N;ENSP00000319947:T646N	ENSP00000256707:T645N	T	-	2	0	KIDINS220	8843792	0.989000	0.36119	0.077000	0.20336	0.960000	0.62799	5.320000	0.65841	1.488000	0.48433	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1	184	561	0	137	1	1	17	72	0	137	2		0	0	0	0	0	2	1	1	181	549	0	137	2								-2.966961	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIDINS220	57498	broad.mit.edu	37	2	8926424	8926424	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926424C>T	ENST00000256707.3	-	16	2032	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa			60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GGGTTGCAATCATTTCAGCCA	0.383000																								0							SO:0001583	missense			ENST00000256707.3	1	1	hg19	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834841	0.91036	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.07	6.07	0.98685	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.76494	0.969;0.999;0.979;0.983	D;D;D;D	0.91635	0.968;0.999;0.986;0.992	T	0.22277	-1.0221	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	618;618;575;617	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	I	364;301;617;617;575;617;618;618	ENSP00000420364:M364I;ENSP00000256707:M617I;ENSP00000411849:M617I;ENSP00000414923:M575I;ENSP00000418974:M617I;ENSP00000419964:M618I;ENSP00000319947:M618I	ENSP00000256707:M617I	M	-	3	0	KIDINS220	8843875	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.885000	0.99019	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	0	68	888	0	165	1	9.819167e-01	4	79	0	165	2		0	0	0	0	0	2	1	1	64	870	0	164	2								-12.758860	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.900000	0.710000	1.000000	1.000000	0.902229	0.900000	1	8.000000e-01	1
KIDINS220	57498	broad.mit.edu	37	2	8936988	8936988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8936988C>T	ENST00000256707.3	-	11	1192	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000319688.5_Silent_p.T338T|KIDINS220_ENST00000473731.1_Silent_p.T337T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa			60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				TTATAAGTGGCGTTTCACCAT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000256707.3	0	1	hg19	CCDS42650.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	0	0	0	15	640	0	107	0	6.496548e-01	1	93	0	107	2		0	0	0	0	0	2	1	9.998493e-01	15	626	0	106	2								-2.643365	1	1	120914	1	35	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.290000	0.170000	0.460000	0.300000	0.309314	0.290000	0	2.200000e-01	3.800000e-01
KIDINS220	57498	broad.mit.edu	37	2	8957806	8957806	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8957806T>C	ENST00000256707.3	-	4	429	c.248A>G	c.(247-249)cAt>cGt	p.H83R	KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa			60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GATGTGCACATGCCCTTCTTT	0.343000																								0							SO:0001583	missense			ENST00000256707.3	1	1	hg19	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584883	0.65992	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.65732	-0.12;-0.12;-0.17;-0.12;-0.12;-0.12	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	N	0.26162	0.8	0.80722	D	1	D;D;D	0.89917	0.968;0.999;1.0	D;D;D	0.91635	0.969;0.999;0.999	T	0.73094	-0.4091	10	0.72032	D	0.01	.	15.0783	0.72093	0.0:0.0:0.0:1.0	.	83;41;83	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	R	83;83;41;83;83;83	ENSP00000256707:H83R;ENSP00000411849:H83R;ENSP00000414923:H41R;ENSP00000418974:H83R;ENSP00000419964:H83R;ENSP00000319947:H83R	ENSP00000256707:H83R	H	-	2	0	KIDINS220	8875257	1.000000	0.71417	0.915000	0.36163	0.446000	0.32137	6.861000	0.75478	2.199000	0.70637	0.533000	0.62120	CAT		TCGA-IB-7651-01A-11D-2154-08	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	1	0	1	156	489	0	105	1	9.999999e-01	14	61	0	105	2		0	0	0	0	0	2	1	1	152	484	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASAP2	8853	broad.mit.edu	37	2	9463281	9463281	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9463281G>A	ENST00000281419.3	+	6	842	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2			36					AAAGGAACACGCCAAGCTCCA	0.493000																								0							SO:0001583	missense			ENST00000281419.3	1	1	hg19	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649500	0.96714	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.04551	3.6;3.6	5.21	5.21	0.72293	.	0.109197	0.64402	D	0.000006	T	0.22589	0.0545	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.954	T	0.00162	-1.1971	10	0.51188	T	0.08	.	18.5624	0.91105	0.0:0.0:1.0:0.0	.	168;168	O43150-2;O43150	.;ASAP2_HUMAN	T	168	ENSP00000281419:A168T;ENSP00000316404:A168T	ENSP00000281419:A168T	A	+	1	0	ASAP2	9380732	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	9.342000	0.97044	2.702000	0.92279	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	1	0	1	74	703	0	144	1	9.999999e-01	32	191	0	144	2		0	0	0	0	0	2	1	1	74	688	0	142	2								-3.142702	1	1	121412	1	19	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.960000	1.000000	1.000000	0.998011	0.990000	1	9.900000e-01	1
ASAP2	8853	broad.mit.edu	37	2	9541430	9541430	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9541430G>A	ENST00000281419.3	+	27	3191	c.2851G>A	c.(2851-2853)Gcg>Acg	p.A951T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2			36					GCGGGTGAAAGCGCTCTATAA	0.592000																								0							SO:0001583	missense			ENST00000281419.3	1	1	hg19	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387495	0.61956	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.69685	-0.42;-0.42	5.66	5.66	0.87406	Src homology-3 domain (4);	0.049976	0.85682	D	0.000000	D	0.85177	0.5637	M	0.90019	3.08	0.58432	D	0.999999	D;B	0.71674	0.998;0.008	D;B	0.81914	0.995;0.106	D	0.84036	0.0362	10	0.30078	T	0.28	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	906;951	O43150-2;O43150	.;ASAP2_HUMAN	T	951;906	ENSP00000281419:A951T;ENSP00000316404:A906T	ENSP00000281419:A951T	A	+	1	0	ASAP2	9458881	1.000000	0.71417	0.979000	0.43373	0.730000	0.41778	9.452000	0.97615	2.669000	0.90835	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	0	0	1	61	356	0	99	1	1	81	208	0	99	2		0	0	0	0	0	2	1	1	61	349	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEKT4	150483	broad.mit.edu	37	2	95537600	95537600	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537600C>T	ENST00000295201.4	+	1	413	c.276C>T	c.(274-276)ggC>ggT	p.G92G	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.G92G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4			28					GCACAGTGGGCGAGCGACTGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000295201.4	1	1	hg19	CCDS2005.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	1	0	1	47	86	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1	46	85	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEKT4	150483	broad.mit.edu	37	2	95537712	95537712	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537712C>A	ENST00000295201.4	+	1	525	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4			28					GGAGCGCGCCCTGGACGCCAC	0.657000																								0							SO:0001583	missense			ENST00000295201.4	0	1	hg19	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.077103	0.36662	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.04406	3.63;3.63	1.84	1.84	0.25277	.	0.000000	0.64402	D	0.000002	T	0.17577	0.0422	M	0.85462	2.755	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.00638	-1.1632	10	0.56958	D	0.05	-0.3095	4.3788	0.11284	0.0:0.7866:0.0:0.2134	.	130	Q8WW24	TEKT4_HUMAN	M	130	ENSP00000295201:L130M;ENSP00000407596:L130M	ENSP00000295201:L130M	L	+	1	2	TEKT4	94901439	0.968000	0.33430	0.996000	0.52242	0.156000	0.22039	1.976000	0.40579	1.015000	0.39444	0.456000	0.33151	CTG		TCGA-IB-7651-01A-11D-2154-08	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	1	0	1	16	71	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999586e-01	16	70	0	11	2								-20.000000	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
MAL	4118	broad.mit.edu	37	2	95715347	95715347	+	Missense_Mutation	SNP	G	G	A	rs11553832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95715347G>A	ENST00000309988.4	+	3	392	c.283G>A	c.(283-285)Gct>Act	p.A95T	AC103563.9_ENST00000442200.1_RNA|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Missense_Mutation_p.A39T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein			10					CCACTGCACCGCTGCCCTCTT	0.622000																								0							SO:0001583	missense			ENST00000309988.4	0	1	hg19	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478948	0.44044	.	.	ENSG00000172005	ENST00000309988;ENST00000354078	T	0.27557	1.66	5.59	4.7	0.59300	Marvel (1);MARVEL-like domain (1);	0.252264	0.45606	D	0.000360	T	0.29126	0.0724	L	0.49126	1.545	0.80722	D	1	P;P	0.49783	0.487;0.928	B;B	0.42343	0.137;0.384	T	0.05225	-1.0898	10	0.51188	T	0.08	.	10.7323	0.46104	0.089:0.0:0.911:0.0	.	39;95	P21145-3;P21145	.;MAL_HUMAN	T	95;39	ENSP00000310880:A95T	ENSP00000310880:A95T	A	+	1	0	MAL	95079074	1.000000	0.71417	0.367000	0.25926	0.249000	0.25844	6.214000	0.72200	1.347000	0.45714	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	0	0	0	15	837	0	167	0	1.101881e-03	0	3	0	167	2		0	0	0	0	0	2	1	9.998485e-01	16	819	0	166	2								-2.409292	0	1	121412	1	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.220000	0.120000	0.360000	0.220000	0.238234	0.220000	0	1.700000e-01	3.000000e-01
ZNF514	84874	broad.mit.edu	37	2	95818951	95818951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95818951C>T	ENST00000295208.2	-	3	510	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ZNF514_ENST00000411425.1_Silent_p.G16G	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514			11					GGTTCAGCTGCCCCCACTCCC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000295208.2	1	1	hg19	CCDS2011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	1	0	0	42	396	0	75	1	5.617320e-01	2	17	0	75	2		0	0	0	0	0	2	1	1	41	385	0	75	2								-13.882720	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.900000	1.000000	1.000000	0.994026	0.990000	1	9.900000e-01	1
ZNF2	7549	broad.mit.edu	37	2	95847399	95847399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95847399C>T	ENST00000340539.5	+	5	1288	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y|ZNF2_ENST00000398107.2_Missense_Mutation_p.H234Y	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2			12		Ovarian(717;0.00768)			CCTTACTCGACACCAGAGAAT	0.453000																								0							SO:0001583	missense			ENST00000340539.5	1	1	hg19	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562794	0.86335	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.16	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000076	D	0.95799	0.8633	H	0.96777	3.88	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.96945	0.9690	10	0.87932	D	0	-22.5568	16.1933	0.82006	0.0:1.0:0.0:0.0	.	238;234;275	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	Y	234;276;196;238;289	ENSP00000381178:H234Y;ENSP00000345392:H276Y;ENSP00000406017:H196Y;ENSP00000295210:H238Y;ENSP00000411051:H289Y	ENSP00000295210:H238Y	H	+	1	0	ZNF2	95211126	1.000000	0.71417	0.945000	0.38365	0.978000	0.69477	5.881000	0.69706	2.696000	0.92011	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	1	0	1	93	473	0	90	1	9.403533e-01	4	22	0	90	2		0	0	0	0	0	2	1	1	92	466	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROM2	150696	broad.mit.edu	37	2	95941711	95941711	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95941711G>A	ENST00000317620.9	+	3	461	c.328G>A	c.(328-330)Gct>Act	p.A110T	PROM2_ENST00000542147.1_Missense_Mutation_p.A110T|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T|PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2			32					CGTGGTATGCGCTGTGATCGC	0.687000																								0							SO:0001583	missense			ENST00000317620.9	1	1	hg19	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633838	0.47049	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.77	3.82	0.43975	.	0.000000	0.64402	D	0.000013	T	0.64091	0.2567	M	0.77616	2.38	0.09310	N	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.25106	T	0.35	-9.3479	10.0963	0.42478	0.0:0.2043:0.7957:0.0	.	110	Q8N271	PROM2_HUMAN	T	110	ENSP00000385716:A110T;ENSP00000318520:A110T;ENSP00000318270:A110T;ENSP00000442542:A110T	ENSP00000318270:A110T	A	+	1	0	PROM2	95305438	0.154000	0.22792	0.447000	0.26932	0.008000	0.06430	2.125000	0.42016	2.176000	0.68965	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	1	0	1	39	116	0	19	0	3.771243e-01	0	5	0	19	2		0	0	0	0	0	2	1	1	39	114	0	19	2								-20.000000	1	1	121354	1	23	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROM2	150696	broad.mit.edu	37	2	95944794	95944794	+	Silent	SNP	G	G	A	rs149982705	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95944794G>A	ENST00000317620.9	+	10	1309	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	PROM2_ENST00000542147.1_Silent_p.P392P|PROM2_ENST00000317668.4_Silent_p.P392P|PROM2_ENST00000403131.2_Silent_p.P392P	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2			32					AAGGGTTCCCGGGCTTGGAGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000317620.9	1	0	hg19	CCDS2012.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	1	0	1	71	239	0	46	1	5.043735e-01	2	5	0	46	2		0	0	0	0	0	2	1	1	70	236	0	45	2								-2.695300	1	1	121404	148	51	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROM2	150696	broad.mit.edu	37	2	95945719	95945719	+	Silent	SNP	C	C	T	rs140258551	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95945719C>T	ENST00000317620.9	+	11	1534	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	PROM2_ENST00000542147.1_Silent_p.G467G|PROM2_ENST00000317668.4_Silent_p.G467G|PROM2_ENST00000403131.2_Silent_p.G467G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	p.G467G(1)		32					AAGCCAAGGGCGAGGCTGGAG	0.627000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000317620.9	1	1	hg19	CCDS2012.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	1	0	1	62	239	0	58	0	5.841963e-01	0	9	0	58	2		0	0	0	0	0	2	1	1	59	238	0	58	2								-3.523851	1	1	121204	19	43	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROM2	150696	broad.mit.edu	37	2	95952933	95952933	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95952933C>A	ENST00000317620.9	+	19	2280	c.2147C>A	c.(2146-2148)cCt>cAt	p.P716H	PROM2_ENST00000542147.1_Missense_Mutation_p.P667H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H|PROM2_ENST00000403131.2_Missense_Mutation_p.P716H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2			32					GGAGAGCTGCCTGCCTGGGCA	0.597000																								0							SO:0001583	missense			ENST00000317620.9	0	1	hg19	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449748	0.63290	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.98	4.1	0.47936	.	0.173678	0.40908	D	0.000983	T	0.60196	0.2250	M	0.76574	2.34	0.38292	D	0.942739	D	0.89917	1.0	D	0.87578	0.998	T	0.64002	-0.6509	10	0.45353	T	0.12	-7.114	9.033	0.36271	0.0:0.9003:0.0:0.0997	.	716	Q8N271	PROM2_HUMAN	H	716;716;716;667	ENSP00000385716:P716H;ENSP00000318520:P716H;ENSP00000318270:P716H;ENSP00000442542:P667H	ENSP00000318270:P716H	P	+	2	0	PROM2	95316660	0.756000	0.28383	0.844000	0.33320	0.988000	0.76386	1.608000	0.36847	1.313000	0.45069	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	0	0	0	7	198	0	39	0	4.822877e-02	0	9	0	39	2		0	0	0	0	0	2	1	9.790302e-01	6	193	0	39	2								-9.009530	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.460000	0.200000	0.830000	0.420000	0.484987	0.460000	0	3.100000e-01	6.400000e-01
KCNIP3	30818	broad.mit.edu	37	2	96040138	96040138	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96040138G>A	ENST00000295225.5	+	3	411	c.276G>A	c.(274-276)gaG>gaA	p.E92E	KCNIP3_ENST00000360990.3_Silent_p.E92E|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.E66E	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin			16					CCAAGAAGGAGCTGCAGTCTC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000295225.5	1	1	hg19	CCDS2013.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	1	0	1	61	242	0	59	0	4.185149e-02	1	1	0	59	2		0	0	0	0	0	2	1	1	61	235	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IAH1	285148	broad.mit.edu	37	2	9621566	9621566	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9621566C>T	ENST00000497473.1	+	4	472	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000470914.1_Silent_p.C32C|IAH1_ENST00000482918.1_Silent_p.C32C	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)			8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				AAGAACAGTGCATCATACAAG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000497473.1	1	1	hg19	CCDS42651.1	.	.	.	.	.	.	.	.	.	.	C	5.483	0.274065	0.10403	.	.	ENSG00000134330	ENST00000481367	.	.	.	5.38	2.56	0.30785	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54761	-0.8245	4	.	.	.	-28.454	10.0625	0.42284	0.0:0.657:0.0:0.343	.	.	.	.	V	125	.	.	A	+	2	0	IAH1	9539017	0.047000	0.20315	0.040000	0.18447	0.035000	0.12851	0.441000	0.21611	0.753000	0.32945	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	1	0	1	31	159	0	33	1	1	80	330	0	33	2		0	0	0	0	0	2	1	1	28	158	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ADAM17	6868	broad.mit.edu	37	2	9658104	9658104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9658104C>T	ENST00000310823.3	-	10	1299	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17			28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				TTCTTCCCAACTGGGCTATAA	0.289000																								0							SO:0001583	missense			ENST00000310823.3	1	1	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	7.942	0.742956	0.15642	.	.	ENSG00000151694	ENST00000310823	D	0.86432	-2.12	6.17	-2.53	0.06326	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	1.724310	0.02114	N	0.055067	T	0.73321	0.3572	N	0.16266	0.395	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56757	-0.7926	10	0.27082	T	0.32	.	0.8013	0.01075	0.2124:0.162:0.3155:0.31	.	373;373	B2RNB2;P78536	.;ADA17_HUMAN	I	373	ENSP00000309968:V373I	ENSP00000309968:V373I	V	-	1	0	ADAM17	9575555	0.000000	0.05858	0.031000	0.17742	0.954000	0.61252	-1.130000	0.03241	-0.426000	0.07360	-0.137000	0.14449	GTT		TCGA-IB-7651-01A-11D-2154-08	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	1	0	1	111	360	0	87	1	1	33	78	0	87	2		0	0	0	0	0	2	1	1	109	357	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPAT2	150763	broad.mit.edu	37	2	96688928	96688928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688928C>T	ENST00000434632.1	-	20	2534	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	GPAT2_ENST00000453542.1_Missense_Mutation_p.R621H|GPAT2_ENST00000359548.4_Missense_Mutation_p.R692H|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Intron			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial			16					GCTGAGCAGGCGGCAGAGGAA	0.652000																								0							SO:0001583	missense			ENST00000434632.1	0	1	hg19	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	17.52	3.411002	0.62399	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.80123	-1.34;-1.34;-0.36	5.44	5.44	0.79542	.	0.381151	0.27411	N	0.019488	D	0.87807	0.6270	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.89917	1.0;0.965;0.953;0.999	D;B;B;D	0.70716	0.97;0.374;0.267;0.957	D	0.87059	0.2152	10	0.44086	T	0.13	-11.9956	16.7485	0.85479	0.0:1.0:0.0:0.0	.	621;698;692;621	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	H	692;692;621	ENSP00000352547:R692H;ENSP00000389395:R692H;ENSP00000393770:R621H	ENSP00000352547:R692H	R	-	2	0	GPAT2	96052655	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.011000	0.49567	2.569000	0.86673	0.637000	0.83480	CGC		TCGA-IB-7651-01A-11D-2154-08	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	1	0	0	6	93	0	16	1	6.207648e-01	2	30	0	16	2		0	0	0	0	0	2	1	9.451875e-01	3	81	0	22	2								-4.581217	1	0	120140	3	29	1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.810000	0.340000	1.000000	1.000000	0.786634	0.810000	0	5.400000e-01	1
GPAT2	150763	broad.mit.edu	37	2	96688941	96688941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688941G>A	ENST00000434632.1	-	20	2521	c.2062C>T	c.(2062-2064)Ctt>Ttt	p.L688F	GPAT2_ENST00000453542.1_Missense_Mutation_p.L617F|GPAT2_ENST00000359548.4_Missense_Mutation_p.L688F|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Intron			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial			16					CAGAGGAAAAGAAAGAAATCT	0.662000																								0							SO:0001583	missense			ENST00000434632.1	0	1	hg19	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	15.40	2.822033	0.50739	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.77229	-1.08;-1.08;-0.07	5.44	4.54	0.55810	.	0.218476	0.39544	N	0.001334	T	0.79811	0.4510	L	0.38531	1.155	0.80722	D	1	D;B;D;D	0.71674	0.998;0.155;0.959;0.995	D;B;P;D	0.66351	0.943;0.038;0.734;0.919	T	0.79729	-0.1681	10	0.56958	D	0.05	-24.6156	9.0082	0.36124	0.0:0.1622:0.6697:0.168	.	617;694;688;617	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	F	688;688;617	ENSP00000352547:L688F;ENSP00000389395:L688F;ENSP00000393770:L617F	ENSP00000352547:L688F	L	-	1	0	GPAT2	96052668	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.859000	0.39418	1.267000	0.44247	0.637000	0.83480	CTT		TCGA-IB-7651-01A-11D-2154-08	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	0	0	0	6	88	0	10	1	6.870393e-01	2	33	0	10	2		0	0	0	0	0	2	1	9.373946e-01	5	71	0	15	2								-10.680510	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.850000	0.360000	1.000000	1.000000	0.810616	0.850000	1	5.700000e-01	1
GPAT2	150763	broad.mit.edu	37	2	96691710	96691710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96691710C>A	ENST00000434632.1	-	13	1665	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D|GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D|GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial			16					GCAGTAGCTGCTCCAGGGTCT	0.617000																								0							SO:0001583	missense			ENST00000434632.1	1	1	hg19	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	17.06	3.293477	0.60086	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.80214	-1.35;-1.35;-0.39;-1.34	4.7	1.81	0.25067	.	0.065530	0.64402	D	0.000008	D	0.83156	0.5193	M	0.65498	2.005	0.29525	N	0.853173	D;D;D;D;P	0.69078	0.971;0.997;0.991;0.997;0.565	P;P;P;P;P	0.61201	0.79;0.885;0.798;0.885;0.569	T	0.75803	-0.3189	10	0.40728	T	0.16	-15.498	5.8985	0.18953	0.0:0.6541:0.0:0.3459	.	331;402;402;402;331	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	D	402;402;331;402	ENSP00000352547:E402D;ENSP00000389395:E402D;ENSP00000393770:E331D;ENSP00000366341:E402D	ENSP00000352547:E402D	E	-	3	2	GPAT2	96055437	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.403000	0.34612	0.383000	0.24910	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	1	0	1	58	229	0	49	0	1.882375e-01	1	3	0	49	2		0	0	0	0	0	2	1	1	57	226	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM17	6868	broad.mit.edu	37	2	9676016	9676016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9676016C>T	ENST00000310823.3	-	4	579	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ADAM17_ENST00000497134.1_Missense_Mutation_p.D133N	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17			28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				ACATCATCATCTCTTATGTGG	0.299000																								0							SO:0001583	missense			ENST00000310823.3	1	1	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684898	0.88639	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.67698	1.92;-0.28	5.33	5.33	0.75918	Peptidase M12B, propeptide (1);	0.226724	0.43260	D	0.000593	T	0.79822	0.4512	L	0.54908	1.71	0.58432	D	0.999997	D;P;D;P	0.89917	1.0;0.605;1.0;0.605	D;B;D;B	0.97110	1.0;0.264;1.0;0.264	T	0.80214	-0.1475	10	0.59425	D	0.04	.	19.3847	0.94551	0.0:1.0:0.0:0.0	.	133;133;133;133	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	N	133	ENSP00000309968:D133N;ENSP00000418728:D133N	ENSP00000309968:D133N	D	-	1	0	ADAM17	9593467	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.452000	0.52971	2.642000	0.89623	0.557000	0.71058	GAT		TCGA-IB-7651-01A-11D-2154-08	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	1	0	0	14	196	0	37	1	9.551604e-01	3	73	0	37	2		0	0	0	0	0	2	1	9.997626e-01	14	193	0	37	2								-3.319639	1	1	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.860000	0.500000	1.000000	1.000000	0.843100	0.860000	1	6.600000e-01	1
ADRA2B	151	broad.mit.edu	37	2	96781645	96781645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781645G>A	ENST00000409345.3	-	1	339	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B			16				Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACCACGTGCGCCGGAAGTAC	0.657000																								0							SO:0001583	missense			ENST00000409345.3	1	1	hg19	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889619	0.52014	.	.	ENSG00000222040	ENST00000409345	T	0.73469	-0.75	4.48	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.84835	0.5560	M	0.92691	3.335	0.32577	N	0.52904	D	0.67145	0.996	P	0.58970	0.849	D	0.86428	0.1759	9	0.72032	D	0.01	.	5.7559	0.18172	0.0986:0.0:0.7108:0.1905	.	82	P18089	ADA2B_HUMAN	C	82	ENSP00000387281:R82C	ENSP00000387281:R82C	R	-	1	0	ADRA2B	96145372	0.001000	0.12720	0.991000	0.47740	0.742000	0.42306	1.279000	0.33191	1.133000	0.42147	-0.365000	0.07479	CGC		TCGA-IB-7651-01A-11D-2154-08	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1	0	0	1	42	124	0	32	0	6.663849e-02	0	2	0	32	2		0	0	0	0	0	2	1	1	42	122	0	31	2								-20.000000	1	0	0	0		1						0.170000	2.060000									0	0
ADRA2B	151	broad.mit.edu	37	2	96781656	96781656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781656C>T	ENST00000409345.3	-	1	328	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B			16				Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGGAAGTACCAGTAGCCCAG	0.652000																								0							SO:0001587	stop_gained			ENST00000409345.3	0	1	hg19	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141515	0.94560	.	.	ENSG00000222040	ENST00000409345	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7699	0.69668	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000387281:W78X	W	-	2	0	ADRA2B	96145383	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.651000	0.83577	2.337000	0.79520	0.456000	0.33151	TGG		TCGA-IB-7651-01A-11D-2154-08	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1	0	0	0	5	167	0	31	0	1.379310e-03	0	2	0	31	2		0	0	0	0	0	2	1	9.365407e-01	5	165	0	30	2								-7.342055	1	0	0	0		1						0.170000	2.060000									0	0
ADRA2B	151	broad.mit.edu	37	2	96781849	96781849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781849C>T	ENST00000409345.3	-	1	135	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B			16				Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCGCTATGGCCGCTGTGGCC	0.672000																								0							SO:0001583	missense			ENST00000409345.3	0	1	hg19	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696581	0.48202	.	.	ENSG00000222040	ENST00000409345	T	0.37584	1.19	4.28	4.28	0.50868	.	.	.	.	.	T	0.41534	0.1163	L	0.48986	1.54	0.48762	D	0.999704	P	0.52842	0.956	P	0.50825	0.651	T	0.14896	-1.0456	9	0.25751	T	0.34	.	14.3119	0.66422	0.0:1.0:0.0:0.0	.	14	P18089	ADA2B_HUMAN	T	14	ENSP00000387281:A14T	ENSP00000387281:A14T	A	-	1	0	ADRA2B	96145576	0.939000	0.31865	0.966000	0.40874	0.374000	0.29953	2.044000	0.41241	2.213000	0.71641	0.456000	0.33151	GCC		TCGA-IB-7651-01A-11D-2154-08	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1	0	0	0	4	101	0	16	0	2.596054e-03	0	2	0	16	2		0	0	0	0	0	2	1	8.895200e-01	4	100	0	16	2								-7.245548	1	0	0	0		1						0.170000	2.060000									0	0
ASTL	431705	broad.mit.edu	37	2	96789973	96789973	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96789973C>T	ENST00000342380.2	-	9	911	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)			30					ATAGGGAGGCCGGAGCGGGGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000342380.2	1	0	hg19	CCDS33249.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1	0	0	1	36	162	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	35	160	0	36	2								-2.509481	1	1	116184	585	55	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNRNP200	23020	broad.mit.edu	37	2	96944327	96944327	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96944327C>A	ENST00000323853.5	-	38	5523	c.5446G>T	c.(5446-5448)Ggc>Tgc	p.G1816C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)			90					GCGATCATGCCTAGGTTCAGA	0.582000																								0							SO:0001583	missense			ENST00000323853.5	1	1	hg19	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079152	0.76528	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.84589	-1.87	5.62	5.62	0.85841	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.88704	2.975	0.80722	D	1	P	0.45768	0.866	P	0.54924	0.764	D	0.92921	0.6355	10	0.62326	D	0.03	-16.916	18.7951	0.91991	0.0:1.0:0.0:0.0	.	1816	O75643	U520_HUMAN	C	1816;275;399	ENSP00000317123:G1816C	ENSP00000317123:G1816C	G	-	1	0	SNRNP200	96308054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.531000	0.81973	2.804000	0.96469	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	1	0	1	44	460	0	83	1	1	72	403	0	83	2		0	0	0	0	0	2	1	1	44	454	0	83	2								-12.984940	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.820000	1.000000	1.000000	0.982219	0.990000	1	9.600000e-01	1
SNRNP200	23020	broad.mit.edu	37	2	96953626	96953626	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96953626G>T	ENST00000323853.5	-	25	3417	c.3340C>A	c.(3340-3342)Ctc>Atc	p.L1114I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)			90					ATCTTGCAGAGGTTCAGGGTC	0.537000																								0							SO:0001583	missense			ENST00000323853.5	0	1	hg19	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131324	0.77549	.	.	ENSG00000144028	ENST00000323853	T	0.71103	-0.54	5.3	5.3	0.74995	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.68728	2.09	0.80722	D	1	B	0.31485	0.325	P	0.44696	0.458	T	0.77877	-0.2424	10	0.54805	T	0.06	-17.238	17.8872	0.88861	0.0:0.0:1.0:0.0	.	1114	O75643	U520_HUMAN	I	1114	ENSP00000317123:L1114I	ENSP00000317123:L1114I	L	-	1	0	SNRNP200	96317353	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.550000	0.98110	2.755000	0.94549	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	0	0	0	11	530	0	108	1	9.539326e-01	13	242	0	108	2		0	0	0	0	0	2	1	9.982187e-01	11	522	0	108	2								-2.681922	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.260000	0.130000	0.440000	0.270000	0.280394	0.260000	0	1.900000e-01	3.600000e-01
ADAM17	6868	broad.mit.edu	37	2	9695662	9695662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9695662C>T	ENST00000310823.3	-	1	255	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	RP11-214N9.1_ENST00000607241.1_lincRNA|ADAM17_ENST00000497134.1_Missense_Mutation_p.G25S	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17			28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GGGCCGAAGCCCGGGTCATCC	0.652000											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000310823.3	0	1	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	3.655	-0.070722	0.07228	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.61859	2.18;0.07	4.36	2.52	0.30459	.	0.486110	0.22687	N	0.056878	T	0.35998	0.0951	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16166	0.016;0.001;0.016;0.001	B;B;B;B	0.15870	0.007;0.001;0.014;0.001	T	0.17930	-1.0353	10	0.30854	T	0.27	.	8.9281	0.35652	0.0:0.7999:0.0:0.2001	.	25;25;25;25	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	S	25	ENSP00000309968:G25S;ENSP00000418728:G25S	ENSP00000309968:G25S	G	-	1	0	ADAM17	9613113	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	1.044000	0.30329	0.585000	0.29608	-0.797000	0.03246	GGC		TCGA-IB-7651-01A-11D-2154-08	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	1	0	1	11	58	0	13	1	9.997340e-01	23	65	0	13	2		0	0	0	0	0	2	1	9.987994e-01	11	58	0	13	2								-19.852520	1	0	0	0		1	1	2	3	2.183349	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.998744	0.990000	1	9.900000e-01	1
ITPRIPL1	150771	broad.mit.edu	37	2	96992435	96992435	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96992435T>C	ENST00000439118.2	+	3	317	c.66T>C	c.(64-66)gtT>gtC	p.V22V	ITPRIPL1_ENST00000536814.1_Silent_p.V14V|ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000361124.4_Silent_p.V30V	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1			27					TGATGTATGTTGTTCACCACC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000439118.2	1	1	hg19	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	T	6.629	0.484444	0.12641	.	.	ENSG00000198885	ENST00000420728	.	.	.	4.89	-4.61	0.03380	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-6.2416	9.4413	0.38670	0.0:0.1531:0.6099:0.237	.	.	.	.	S	54	.	.	L	+	2	0	ITPRIPL1	96356162	0.000000	0.05858	0.896000	0.35187	0.999000	0.98932	-4.207000	0.00274	-1.018000	0.03363	0.533000	0.62120	TTG		TCGA-IB-7651-01A-11D-2154-08	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	1	0	1	94	417	0	100	0	9.073242e-02	0	3	0	100	2		0	0	0	0	0	2	1	1	94	412	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPH	23397	broad.mit.edu	37	2	97007618	97007618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97007618C>T	ENST00000240423.4	+	2	301	c.258C>T	c.(256-258)gcC>gcT	p.A86A	NCAPH_ENST00000455200.1_Silent_p.A75A|NCAPH_ENST00000427946.1_Intron	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H			28		Ovarian(717;0.0221)			GCTTATTGGCCTCCCCCTCCA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000240423.4	1	1	hg19	CCDS2021.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	1	0	1	97	497	0	71	1	6.527672e-01	4	9	0	71	2		0	0	0	0	0	2	1	1	97	483	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPH	23397	broad.mit.edu	37	2	97009891	97009891	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97009891A>C	ENST00000240423.4	+	6	687	c.644A>C	c.(643-645)aAg>aCg	p.K215T	NCAPH_ENST00000455200.1_Missense_Mutation_p.K204T|NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H			28		Ovarian(717;0.0221)			GTAAAGCCAAAGAAGAAGCAC	0.438000																								0							SO:0001583	missense			ENST00000240423.4	1	1	hg19	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304597	0.60305	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.43	4.29	0.51040	.	0.151158	0.64402	D	0.000018	T	0.71151	0.3306	M	0.75264	2.295	0.44547	D	0.997506	P;P;P;P	0.51653	0.89;0.89;0.947;0.89	P;P;P;P	0.56751	0.636;0.636;0.805;0.636	T	0.70263	-0.4920	10	0.41790	T	0.15	-18.9547	8.7826	0.34800	0.9065:0.0:0.0935:0.0	.	191;204;204;215	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	T	215;79;204;204	ENSP00000240423:K215T;ENSP00000400774:K79T;ENSP00000405237:K204T;ENSP00000407308:K204T	ENSP00000240423:K215T	K	+	2	0	NCAPH	96373618	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.687000	0.54692	1.034000	0.39945	0.524000	0.50904	AAG		TCGA-IB-7651-01A-11D-2154-08	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	1	0	1	62	254	0	53	1	9.833960e-01	9	20	0	53	2		0	0	0	0	0	2	1	1	62	251	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPH	23397	broad.mit.edu	37	2	97026333	97026333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97026333C>T	ENST00000240423.4	+	12	1515	c.1472C>T	c.(1471-1473)aCt>aTt	p.T491I	NCAPH_ENST00000455200.1_Missense_Mutation_p.T480I|NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H			28		Ovarian(717;0.0221)			TAGGCTGCTACTATTCTGACC	0.403000																								0							SO:0001583	missense			ENST00000240423.4	1	1	hg19	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434742	0.62955	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.3	4.42	0.53409	.	0.046684	0.85682	N	0.000000	T	0.59622	0.2207	M	0.72479	2.2	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77004	0.987;0.989;0.973	T	0.57476	-0.7805	10	0.23891	T	0.37	-12.9561	12.2103	0.54375	0.0:0.9161:0.0:0.0839	.	467;480;491	B4DRG7;E9PHA2;Q15003	.;.;CND2_HUMAN	I	491;355;480;480	ENSP00000240423:T491I;ENSP00000400774:T355I;ENSP00000405237:T480I;ENSP00000407308:T480I	ENSP00000240423:T491I	T	+	2	0	NCAPH	96390060	1.000000	0.71417	0.926000	0.36857	0.896000	0.52359	3.934000	0.56553	1.373000	0.46208	-0.150000	0.13652	ACT		TCGA-IB-7651-01A-11D-2154-08	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	0	0	1	195	597	0	155	1	9.726143e-01	11	9	0	155	2		0	0	0	0	0	2	1	1	192	588	0	154	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNNM4	26504	broad.mit.edu	37	2	97427765	97427765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427765G>T	ENST00000377075.2	+	1	1127	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4			20					AGCTGATGGAGATGTTGAAGG	0.498000																								0							SO:0001583	missense			ENST00000377075.2	1	1	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206442	0.58343	.	.	ENSG00000158158	ENST00000377075	D	0.88741	-2.42	5.03	3.25	0.37280	Domain of unknown function DUF21 (1);	0.183995	0.46758	D	0.000264	D	0.90954	0.7156	M	0.84511	2.7	0.80722	D	1	P	0.36110	0.537	P	0.45406	0.479	D	0.88804	0.3287	10	0.59425	D	0.04	-18.7157	8.2718	0.31849	0.2505:0.0:0.7495:0.0	.	343	Q6P4Q7	CNNM4_HUMAN	D	343	ENSP00000366275:E343D	ENSP00000366275:E343D	E	+	3	2	CNNM4	96791492	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.509000	0.53386	0.538000	0.28769	-0.749000	0.03505	GAG		TCGA-IB-7651-01A-11D-2154-08	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	1	0	1	98	320	0	89	1	1	58	53	0	89	2		0	0	0	0	0	2	1	1	98	314	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNNM4	26504	broad.mit.edu	37	2	97427930	97427930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427930G>A	ENST00000377075.2	+	1	1292	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	p.S398S(1)		20					ACACCATGTCGGAGATAATGG	0.502000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000377075.2	1	1	hg19	CCDS2024.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	1	0	1	86	399	0	94	1	1	34	87	0	94	2		0	0	0	0	0	2	1	1	84	386	0	93	2								-2.610402	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNNM4	26504	broad.mit.edu	37	2	97427977	97427977	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427977A>C	ENST00000377075.2	+	1	1339	c.1241A>C	c.(1240-1242)gAg>gCg	p.E414A		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4			20					TTCGAAGACGAGCAGTCCAAT	0.507000																								0							SO:0001583	missense			ENST00000377075.2	1	1	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193286	0.58017	.	.	ENSG00000158158	ENST00000377075	T	0.77489	-1.1	5.05	5.05	0.67936	Cystathionine beta-synthase, core (1);	0.118012	0.56097	D	0.000032	D	0.87724	0.6249	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.89117	0.3500	10	0.62326	D	0.03	-6.8455	13.8067	0.63236	1.0:0.0:0.0:0.0	.	414	Q6P4Q7	CNNM4_HUMAN	A	414	ENSP00000366275:E414A	ENSP00000366275:E414A	E	+	2	0	CNNM4	96791704	1.000000	0.71417	0.993000	0.49108	0.469000	0.32828	9.281000	0.95811	1.909000	0.55274	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	1	0	1	155	535	0	142	1	9.999996e-01	29	45	0	142	2		0	0	0	0	0	2	1	1	153	523	0	141	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNNM3	26505	broad.mit.edu	37	2	97493533	97493533	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97493533A>G	ENST00000305510.3	+	4	1613	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3			13					GAAGCATCCCAGTGTCAACCA	0.552000																								0							SO:0001583	missense			ENST00000305510.3	1	1	hg19	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717725	0.48622	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90844	-2.47;-2.74	5.93	5.93	0.95920	.	0.049764	0.85682	D	0.000000	D	0.82912	0.5140	N	0.25890	0.77	0.80722	D	1	B;B	0.22346	0.068;0.005	B;B	0.22386	0.039;0.01	T	0.77117	-0.2706	10	0.19590	T	0.45	-3.8148	9.8058	0.40792	0.9227:0.0:0.0773:0.0	.	481;529	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	G	481;481;529	ENSP00000366260:S481G;ENSP00000305449:S529G	ENSP00000305449:S529G	S	+	1	0	CNNM3	96857260	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.403000	0.66338	2.271000	0.75665	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	1	0	1	56	364	0	63	1	9.999987e-01	40	90	0	63	2		0	0	0	0	0	2	1	1	54	360	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ANKRD23	200539	broad.mit.edu	37	2	97506535	97506535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97506535C>T	ENST00000318357.4	-	4	456	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000476975.1_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23			9					TTGTCATGGGCATTGGGGTCC	0.597000																								0							SO:0001583	missense			ENST00000318357.4	1	1	hg19	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078512	0.36662	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	T;T	0.66995	-0.24;-0.24	5.03	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.000000	0.39274	N	0.001404	T	0.65375	0.2685	L	0.55743	1.74	0.80722	D	1	P	0.48089	0.905	P	0.50490	0.642	T	0.60875	-0.7176	10	0.17832	T	0.49	-14.3014	9.5251	0.39160	0.0:0.9046:0.0:0.0954	.	139	Q86SG2	ANR23_HUMAN	T	139	ENSP00000321679:A139T;ENSP00000398987:A139T	ENSP00000321679:A139T	A	-	1	0	ANKRD23	96870262	0.302000	0.24454	0.965000	0.40720	0.881000	0.50899	0.725000	0.25970	1.361000	0.45981	-0.224000	0.12420	GCC		TCGA-IB-7651-01A-11D-2154-08	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	1	0	1	162	502	0	133	1	5.400624e-01	3	4	0	133	2		0	0	0	0	0	2	1	1	156	491	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA4C	54910	broad.mit.edu	37	2	97527040	97527040	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97527040G>T	ENST00000305476.5	-	15	1957	c.1825C>A	c.(1825-1827)Ctc>Atc	p.L609I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C			17					AGGGCCTGGAGCCGGGCATCG	0.692000																								0							SO:0001583	missense			ENST00000305476.5	1	1	hg19	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498736	0.44455	.	.	ENSG00000168758	ENST00000305476	T	0.04758	3.56	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.150600	0.45606	D	0.000351	T	0.15998	0.0385	L	0.51422	1.61	0.58432	D	0.999996	B;P;D	0.69078	0.382;0.638;0.997	B;B;D	0.72625	0.133;0.212;0.978	T	0.01118	-1.1446	10	0.37606	T	0.19	.	16.5234	0.84322	0.0:0.0:1.0:0.0	.	609;319;150	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	I	609	ENSP00000306844:L609I	ENSP00000306844:L609I	L	-	1	0	SEMA4C	96890767	0.998000	0.40836	0.961000	0.40146	0.964000	0.63967	3.308000	0.51896	2.417000	0.82017	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	1	0	0	17	308	0	27	1	9.636594e-01	4	98	0	27	2		0	0	0	0	0	2	1	9.999619e-01	17	301	0	27	2								-19.256350	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.670000	0.410000	1.000000	1.000000	0.692419	0.670000	0	5.300000e-01	8.500000e-01
SEMA4C	54910	broad.mit.edu	37	2	97529765	97529765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97529765G>A	ENST00000305476.5	-	11	1360	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	p.R410C(1)		17					AGCAGGGGGCGGCTCCACCGA	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000305476.5	1	1	hg19	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528016	0.85706	.	.	ENSG00000168758	ENST00000305476	T	0.34072	1.38	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.106709	0.64402	D	0.000004	T	0.67515	0.2901	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.63283	0.913;0.913	T	0.75328	-0.3356	10	0.87932	D	0	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	410;120	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	C	410	ENSP00000306844:R410C	ENSP00000306844:R410C	R	-	1	0	SEMA4C	96893492	0.599000	0.26891	1.000000	0.80357	0.981000	0.71138	2.829000	0.48128	2.667000	0.90743	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	1	0	1	37	182	0	33	1	9.999927e-01	16	77	0	33	2		0	0	0	0	0	2	1	1	37	180	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZAP70	7535	broad.mit.edu	37	2	98340826	98340826	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340826G>A	ENST00000264972.5	+	3	542	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa			29					CGGGCCTCGAGCCGCAGCCGG	0.711000																								0							SO:0001819	synonymous_variant			ENST00000264972.5	0	1	hg19	CCDS33254.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	0	8	48	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.880143e-01	8	44	0	8	2								-16.126390	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.890000	1.000000	1.000000	0.993556	0.990000	1	9.900000e-01	1
ZAP70	7535	broad.mit.edu	37	2	98340886	98340886	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340886G>T	ENST00000264972.5	+	3	602	c.387G>T	c.(385-387)caG>caT	p.Q129H	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa			29					ACGTGCGCCAGACGTGGAAGC	0.701000																								0							SO:0001583	missense			ENST00000264972.5	0	1	hg19	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730690	0.48939	.	.	ENSG00000115085	ENST00000264972	T	0.25912	1.77	4.9	4.9	0.64082	Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain (1);	0.000000	0.47852	D	0.000211	T	0.25344	0.0616	L	0.45137	1.4	0.80722	D	1	B;B	0.16396	0.017;0.003	B;B	0.12837	0.008;0.002	T	0.03673	-1.1014	10	0.54805	T	0.06	.	15.9444	0.79782	0.0:0.0:1.0:0.0	.	129;129	B4E0E2;P43403	.;ZAP70_HUMAN	H	129	ENSP00000264972:Q129H	ENSP00000264972:Q129H	Q	+	3	2	ZAP70	97707318	1.000000	0.71417	0.991000	0.47740	0.917000	0.54804	1.599000	0.36751	2.449000	0.82847	0.467000	0.42956	CAG		TCGA-IB-7651-01A-11D-2154-08	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	0	10	44	0	8	0	2.589481e-01	0	5	0	8	2		0	0	0	0	0	2	1	9.977981e-01	10	44	0	8	2								-19.381470	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999377	0.990000	1	9.900000e-01	1
ZAP70	7535	broad.mit.edu	37	2	98350016	98350016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98350016C>T	ENST00000264972.5	+	8	1062	c.847C>T	c.(847-849)Cga>Tga	p.R283*	ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa			29					GCCTCAGAGACGAATCGACAC	0.612000																								0							SO:0001587	stop_gained			ENST00000264972.5	0	1	hg19	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677893	0.68042	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	.	.	.	4.43	2.47	0.30058	.	0.517370	0.15567	N	0.255631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2272	0.15401	0.2:0.6941:0.0:0.1058	.	.	.	.	X	283;157	.	ENSP00000264972:R283X	R	+	1	2	ZAP70	97716448	0.836000	0.29430	0.973000	0.42090	0.794000	0.44872	0.509000	0.22707	1.202000	0.43218	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	0	39	458	0	73	0	3.698985e-01	0	16	0	73	2		0	0	0	0	0	2	1	1	39	454	0	73	2								-3.318794	1	1	121412	1	30	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.720000	1.000000	1.000000	0.946724	0.990000	1	8.500000e-01	1
ZAP70	7535	broad.mit.edu	37	2	98351789	98351789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98351789G>A	ENST00000264972.5	+	10	1374	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa			29					GATGCGCGAGGCGCAGATCAT	0.652000																								0							SO:0001583	missense			ENST00000264972.5	1	1	hg19	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541711	0.85917	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.63913	-0.07;-0.07;-0.07	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000136	T	0.74512	0.3726	M	0.70787	2.145	0.80722	D	1	D;D	0.63046	0.992;0.965	P;P	0.55545	0.741;0.778	T	0.77035	-0.2737	10	0.87932	D	0	.	17.5952	0.88010	0.0:0.0:1.0:0.0	.	261;387	P43403-3;P43403	.;ZAP70_HUMAN	T	387;261;80	ENSP00000264972:A387T;ENSP00000411141:A261T;ENSP00000400475:A80T	ENSP00000264972:A387T	A	+	1	0	ZAP70	97718221	1.000000	0.71417	0.989000	0.46669	0.199000	0.23934	9.823000	0.99369	2.844000	0.97970	0.643000	0.83706	GCG		TCGA-IB-7651-01A-11D-2154-08	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	1	233	610	0	132	0	8.090533e-01	0	10	0	132	2		0	0	0	0	0	2	1	1	230	605	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZAP70	7535	broad.mit.edu	37	2	98354262	98354262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98354262G>A	ENST00000264972.5	+	12	1740	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa			29					GTACGCACCCGAATGCATCAA	0.637000																								0							SO:0001583	missense			ENST00000264972.5	1	1	hg19	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512702	0.96402	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.84370	-1.84;-1.84;-1.84	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000170	D	0.96081	0.8723	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97885	1.0294	10	0.87932	D	0	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	383;509	P43403-3;P43403	.;ZAP70_HUMAN	K	509;383;202	ENSP00000264972:E509K;ENSP00000411141:E383K;ENSP00000400475:E202K	ENSP00000264972:E509K	E	+	1	0	ZAP70	97720694	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	7.956000	0.87863	2.610000	0.88304	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1	1	0	1	194	958	0	166	0	6.695237e-01	0	13	0	166	2		0	0	0	0	0	2	1	1	192	939	0	164	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM131	23505	broad.mit.edu	37	2	98373767	98373767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373767G>A	ENST00000186436.5	-	41	5675	c.5447C>T	c.(5446-5448)gCc>gTc	p.A1816V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131			57					GAAGGGAAGGGCGCTGCTAAG	0.592000																								0							SO:0001583	missense			ENST00000186436.5	1	1	hg19	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044813	0.36085	.	.	ENSG00000075568	ENST00000186436	T	0.35973	1.28	5.47	4.56	0.56223	.	0.550760	0.21063	N	0.080790	T	0.23532	0.0569	N	0.14661	0.345	0.41406	D	0.987701	B;B	0.22414	0.005;0.069	B;B	0.24701	0.01;0.055	T	0.07233	-1.0783	10	0.56958	D	0.05	-0.0624	10.5944	0.45329	0.0:0.2379:0.6324:0.1297	.	1816;196	Q92545;Q0P631	TM131_HUMAN;.	V	1816	ENSP00000186436:A1816V	ENSP00000186436:A1816V	A	-	2	0	TMEM131	97740199	0.994000	0.37717	0.253000	0.24343	0.984000	0.73092	2.242000	0.43106	1.487000	0.48415	0.637000	0.83480	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	1	68	286	0	72	1	1	40	179	0	72	2		0	0	0	0	0	2	1	1	68	279	0	72	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM131	23505	broad.mit.edu	37	2	98373796	98373796	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373796G>T	ENST00000186436.5	-	41	5646	c.5418C>A	c.(5416-5418)agC>agA	p.S1806R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131			57					ACCAAATGGAGCTGCTGAATG	0.602000																								0							SO:0001583	missense			ENST00000186436.5	1	1	hg19	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304642	0.60305	.	.	ENSG00000075568	ENST00000186436	T	0.38077	1.16	5.48	2.51	0.30379	.	0.294098	0.46758	D	0.000266	T	0.24624	0.0597	L	0.32530	0.975	0.80722	D	1	B;P	0.41188	0.058;0.741	B;B	0.39258	0.03;0.295	T	0.02676	-1.1125	10	0.46703	T	0.11	-1.3683	7.3311	0.26584	0.4024:0.0:0.5976:0.0	.	1806;186	Q92545;Q0P631	TM131_HUMAN;.	R	1806	ENSP00000186436:S1806R	ENSP00000186436:S1806R	S	-	3	2	TMEM131	97740228	0.956000	0.32656	0.852000	0.33557	0.931000	0.56810	1.564000	0.36375	0.874000	0.35823	0.643000	0.83706	AGC		TCGA-IB-7651-01A-11D-2154-08	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	1	91	298	0	79	1	1	58	135	0	79	2		0	0	0	0	0	2	1	1	88	292	0	79	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM131	23505	broad.mit.edu	37	2	98422056	98422056	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98422056T>C	ENST00000186436.5	-	20	2394	c.2166A>G	c.(2164-2166)ttA>ttG	p.L722L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131			57					TATTGCCCCGTAATCGTTTAT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000186436.5	1	1	hg19	CCDS46368.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	0	269	921	0	236	1	1	20	69	0	236	2		0	0	0	0	0	2	1	1	267	899	0	236	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM131	23505	broad.mit.edu	37	2	98429173	98429173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98429173C>T	ENST00000186436.5	-	16	1885	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131			57					ACTCCAAAATCTATGAAACGT	0.299000																								0							SO:0001583	missense			ENST00000186436.5	1	1	hg19	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385078	0.82792	0.0	1.23E-4	ENSG00000075568	ENST00000186436	T	0.41400	1.0	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.52653	-0.8547	10	0.44086	T	0.13	-19.9906	18.0982	0.89497	0.0:1.0:0.0:0.0	.	553	Q92545	TM131_HUMAN	N	553	ENSP00000186436:D553N	ENSP00000186436:D553N	D	-	1	0	TMEM131	97795605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.540000	0.73861	2.785000	0.95823	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	0	11	236	0	52	1	7.707681e-01	3	59	0	52	2		0	0	0	0	0	2	1	9.983310e-01	11	233	0	52	2								-4.457248	1	0	120758	1	29	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.580000	0.310000	0.950000	0.570000	0.605233	0.580000	0	4.300000e-01	7.700000e-01
TMEM131	23505	broad.mit.edu	37	2	98430750	98430750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98430750G>A	ENST00000186436.5	-	14	1622	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	p.A352V(1)		57					AATGAGGATCGCAAAACTGAA	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000186436.5	1	1	hg19	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097924	0.94197	.	.	ENSG00000075568	ENST00000186436	T	0.33216	1.42	5.31	5.31	0.75309	.	0.053675	0.64402	D	0.000001	T	0.42063	0.1186	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.32798	-0.9893	10	0.59425	D	0.04	-12.5872	19.3411	0.94342	0.0:0.0:1.0:0.0	.	465	Q92545	TM131_HUMAN	V	465	ENSP00000186436:A465V	ENSP00000186436:A465V	A	-	2	0	TMEM131	97797182	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.047000	0.93823	2.631000	0.89168	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	1	0	1	58	272	0	55	1	9.998589e-01	13	51	0	55	2		0	0	0	0	0	2	1	1	58	265	0	55	2								-3.210506	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VWA3B	200403	broad.mit.edu	37	2	98709695	98709695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98709695G>A	ENST00000477737.1	+	2	344	c.140G>A	c.(139-141)aGc>aAc	p.S47N	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B			70					GGGCTTAAGAGCAACAAATTG	0.448000																								0							SO:0001583	missense			ENST00000477737.1	1	1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469179	0.26423	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.38887	1.11;1.11	5.52	1.49	0.22878	.	0.364292	0.30446	N	0.009620	T	0.21103	0.0508	N	0.17474	0.49	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.16289	0.003;0.015	T	0.04347	-1.0958	10	0.25751	T	0.34	.	4.8174	0.13374	0.2586:0.3219:0.4195:0.0	.	47;47	Q502W6;Q502W6-8	VWA3B_HUMAN;.	N	47	ENSP00000401959:S47N;ENSP00000417955:S47N	ENSP00000411168:S47N	S	+	2	0	VWA3B	98076127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.157000	0.31724	0.419000	0.25927	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	0	58	569	0	120	1	2.764384e-01	4	7	0	120	2		0	0	0	0	0	2	1	1	59	552	0	119	2								-16.653980	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.910000	1.000000	1.000000	0.994397	0.990000	1	9.900000e-01	1
VWA3B	200403	broad.mit.edu	37	2	98750321	98750321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750321G>T	ENST00000477737.1	+	7	1111	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B			70					AGAGTGTGTAGAATTTCCTGC	0.458000																								0							SO:0001587	stop_gained			ENST00000477737.1	0	1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440653	0.83993	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	5.66	2.81	0.32909	.	1.314060	0.04874	N	0.446518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	7.8642	0.29528	0.0754:0.0:0.6401:0.2844	.	.	.	.	X	303;303;153	.	ENSP00000411168:E303X	E	+	1	0	VWA3B	98116753	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	1.226000	0.32563	0.290000	0.22444	-0.169000	0.13324	GAA		TCGA-IB-7651-01A-11D-2154-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	0	201	955	0	194	0	2.814481e-01	0	6	0	194	2		0	0	0	0	0	2	1	1	194	939	0	193	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VWA3B	200403	broad.mit.edu	37	2	98750327	98750327	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750327C>A	ENST00000477737.1	+	7	1117	c.913C>A	c.(913-915)Cct>Act	p.P305T	VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	p.P305S(1)		70					TGTAGAATTTCCTGCATTCTC	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000477737.1	1	1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629337	0.28978	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.22336	1.96;3.4;2.49	5.66	2.84	0.33178	.	0.306720	0.28219	N	0.016155	T	0.18718	0.0449	L	0.59436	1.845	0.09310	N	1	B;B;B	0.23442	0.04;0.085;0.066	B;B;B	0.19946	0.012;0.02;0.027	T	0.17592	-1.0364	10	0.24483	T	0.36	.	8.7159	0.34411	0.0:0.7487:0.0:0.2513	.	155;305;305	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	T	305;305;155	ENSP00000401959:P305T;ENSP00000417955:P305T;ENSP00000389463:P155T	ENSP00000411168:P305T	P	+	1	0	VWA3B	98116759	0.001000	0.12720	0.112000	0.21494	0.007000	0.05969	0.480000	0.22244	0.730000	0.32425	-0.140000	0.14226	CCT		TCGA-IB-7651-01A-11D-2154-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	1	188	935	0	190	0	3.973919e-01	0	8	0	190	2		0	0	0	0	0	2	1	1	181	918	0	189	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VWA3B	200403	broad.mit.edu	37	2	98853155	98853155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98853155G>A	ENST00000477737.1	+	19	2839	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	p.V879F(1)		70					CTATGTTCCCGTCCTGGACAA	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000477737.1	1	1	hg19	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.788127|-1.788127	0.00628|0.00628	2.46E-4|2.46E-4	2.38E-4|2.38E-4	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.04603	.|3.59	4.93|4.93	-5.54|-5.54	0.02544|0.02544	.|.	.|0.860524	.|0.09978	.|N	.|0.731380	T|T	0.01353|0.01353	0.0044|0.0044	N|N	0.01505|0.01505	-0.83|-0.83	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B;B	.|0.15719	.|0.007;0.014;0.005;0.005	.|B;B;B;B	.|0.11329	.|0.004;0.004;0.006;0.002	T|T	0.43360|0.43360	-0.9396|-0.9396	5|10	.|0.02654	.|T	.|1	.|.	8.9965|8.9965	0.36055|0.36055	0.3303:0.0:0.5651:0.1046|0.3303:0.0:0.5651:0.1046	.|.	.|271;879;879;879	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	H|I	289|879	.|ENSP00000417955:V879I	.|ENSP00000417955:V879I	R|V	+|+	2|1	0|0	VWA3B|VWA3B	98219587|98219587	0.014000|0.014000	0.17966|0.17966	0.000000|0.000000	0.03702|0.03702	0.082000|0.082000	0.17680|0.17680	0.010000|0.010000	0.13242|0.13242	-1.438000|-1.438000	0.01965|0.01965	-0.218000|-0.218000	0.12543|0.12543	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	1	138	813	0	157	0	2.131482e-02	1	1	0	157	2		0	0	0	0	0	2	1	1	136	803	0	153	2								-20.000000	1	1	120938	13	46	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VWA3B	200403	broad.mit.edu	37	2	98928393	98928393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98928393C>T	ENST00000477737.1	+	27	3837	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B			70					AAAAGAGGCCCGCCAAGCAGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000477737.1	1	1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	1.014	-0.687052	0.03328	.	.	ENSG00000168658	ENST00000473149	.	.	.	3.89	-6.28	0.02020	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	13.2536	0.60066	0.0:0.1782:0.0:0.8218	.	.	.	.	C	622	.	.	R	+	1	0	VWA3B	98294825	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	-1.161000	0.03144	-1.552000	0.01704	-0.339000	0.08088	CGC		TCGA-IB-7651-01A-11D-2154-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	1	31	62	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	1	31	58	0	9	2								-6.313370	1	1	120172	1	30	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNGA3	1261	broad.mit.edu	37	2	99008415	99008415	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99008415C>A	ENST00000272602.2	+	6	694	c.655C>A	c.(655-657)Ctt>Att	p.L219I	CNGA3_ENST00000393504.1_Missense_Mutation_p.L219I|CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I|CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3			49					CTTGGATGTGCTTGTACGAGC	0.597000																								0							SO:0001583	missense			ENST00000272602.2	1	1	hg19	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	1.982	-0.433896	0.04669	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	5.28	3.46	0.39613	Ion transport (1);	0.120714	0.56097	D	0.000022	D	0.93481	0.7920	N	0.13327	0.33	0.25395	N	0.988493	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17098	0.013;0.013;0.017	D	0.85723	0.1326	10	0.22706	T	0.39	.	9.4971	0.38995	0.0:0.772:0.0:0.228	.	223;201;219	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	I	219;201;219;223	ENSP00000377140:L219I;ENSP00000410070:L201I;ENSP00000272602:L219I;ENSP00000386761:L223I	ENSP00000272602:L219I	L	+	1	0	CNGA3	98374847	0.015000	0.18098	0.997000	0.53966	0.084000	0.17831	0.298000	0.19120	1.473000	0.48159	-0.137000	0.14449	CTT		TCGA-IB-7651-01A-11D-2154-08	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	1	0	1	62	279	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1	60	273	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNGA3	1261	broad.mit.edu	37	2	99012701	99012701	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99012701C>A	ENST00000272602.2	+	7	1107	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	CNGA3_ENST00000393504.1_Silent_p.L356L|CNGA3_ENST00000409937.1_Silent_p.L360L|CNGA3_ENST00000436404.2_Silent_p.L338L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3			49					TTTACAGTCTCTACTGGTCCA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000272602.2	1	1	hg19	CCDS2034.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	0	0	1	83	387	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	82	379	0	82	2								-3.271346	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNGA3	1261	broad.mit.edu	37	2	99013655	99013655	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99013655C>T	ENST00000272602.2	+	7	2061	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	CNGA3_ENST00000393504.1_Silent_p.D674D|CNGA3_ENST00000409937.1_Silent_p.D678D|CNGA3_ENST00000436404.2_Silent_p.D656D			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3			49					GTGGTGGGGACAAGCCCCTGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000272602.2	1	1	hg19	CCDS2034.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	1	0	1	67	197	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	1	66	197	0	61	2								-4.970528	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPP4A	3631	broad.mit.edu	37	2	99185040	99185040	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99185040C>T	ENST00000523221.1	+	21	2442	c.2442C>T	c.(2440-2442)ggC>ggT	p.G814G	INPP4A_ENST00000545415.1_Silent_p.G775G|INPP4A_ENST00000409851.3_Silent_p.G809G|INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000409016.4_Silent_p.G775G|INPP4A_ENST00000074304.5_Silent_p.G814G			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa			43					CAAGGTTTGGCGATACGTCTT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000523221.1	0	1	hg19	CCDS46369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	0	0	0	8	49	0	8	1	9.942852e-01	4	58	0	8	2		0	0	0	0	0	2	1	9.889172e-01	8	46	0	8	2								-7.031560	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.880000	1.000000	1.000000	0.992906	0.990000	1	9.900000e-01	1
UNC50	25972	broad.mit.edu	37	2	99226382	99226382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226382C>T	ENST00000357765.2	+	2	312	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	COA5_ENST00000483527.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.L71F|UNC50_ENST00000409975.1_Missense_Mutation_p.L71F|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)			10					CTGGCAGATGCTCTACCTGTT	0.488000																								0							SO:0001583	missense			ENST00000357765.2	1	1	hg19	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823659	0.50739	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.126220	0.56097	D	0.000040	T	0.45013	0.1321	N	0.20685	0.6	0.80722	D	1	B	0.25007	0.116	B	0.28638	0.092	T	0.32508	-0.9904	9	0.16420	T	0.52	-20.4457	18.0646	0.89387	0.0:1.0:0.0:0.0	.	54	Q53HI1	UNC50_HUMAN	F	54;71;71	.	ENSP00000350409:L54F	L	+	1	0	UNC50	98592814	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.511000	0.60462	2.505000	0.84491	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	1	0	1	108	547	0	127	1	1	56	260	0	127	2		0	0	0	0	0	2	1	1	105	536	0	125	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC50	25972	broad.mit.edu	37	2	99226447	99226447	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226447C>T	ENST00000357765.2	+	2	377	c.225C>T	c.(223-225)gaC>gaT	p.D75D	COA5_ENST00000483527.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Silent_p.D92D|UNC50_ENST00000409975.1_Silent_p.D92D|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)			10					AGACGAAGGACCAGTGGGCCA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000357765.2	1	1	hg19	CCDS2035.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	1	0	1	95	241	0	61	1	1	93	189	0	61	2		0	0	0	0	0	2	1	1	93	235	0	61	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSGA10	80705	broad.mit.edu	37	2	99681453	99681453	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99681453C>A	ENST00000393483.3	-	16	2197	c.1353G>T	c.(1351-1353)gaG>gaT	p.E451D	TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10			34					ATCTGTTACCCTCTGCCTCAG	0.373000																								0							SO:0001583	missense			ENST00000393483.3	1	1	hg19	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391315	0.62066	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46	5.3	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.24736	0.0600	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.02244	-1.1189	10	0.34782	T	0.22	-13.7504	8.0984	0.30842	0.0:0.8223:0.0:0.1777	.	451	Q9BZW7	TSG10_HUMAN	D	451	ENSP00000377123:E451D;ENSP00000386956:E451D;ENSP00000347161:E451D;ENSP00000444419:E451D;ENSP00000386508:E451D;ENSP00000377122:E451D	ENSP00000347161:E451D	E	-	3	2	TSGA10	99047885	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.021000	0.41020	1.476000	0.48215	0.585000	0.79938	GAG		TCGA-IB-7651-01A-11D-2154-08	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	1	0	1	71	347	0	68	0	0	0	1	0	68	2		0	0	0	0	0	2	1	1	70	338	0	67	2								-2.773657	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSGA10	80705	broad.mit.edu	37	2	99722093	99722093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99722093G>A	ENST00000393483.3	-	8	1122	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M|TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	p.T93M(1)		34					AGCATGTGCCGTTGTTGATTT	0.413000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000393483.3	1	1	hg19	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271194	0.80469	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.75;0.73	4.99	4.99	0.66335	.	0.104336	0.42821	D	0.000649	T	0.61085	0.2319	L	0.44542	1.39	0.39356	D	0.965848	D;D	0.89917	1.0;1.0	D;D	0.71870	0.96;0.975	T	0.62364	-0.6870	10	0.49607	T	0.09	-14.2659	17.049	0.86513	0.0:0.0:1.0:0.0	.	93;93	B7Z925;Q9BZW7	.;TSG10_HUMAN	M	93	ENSP00000377123:T93M;ENSP00000386956:T93M;ENSP00000347161:T93M;ENSP00000444419:T93M;ENSP00000386508:T93M;ENSP00000377122:T93M	ENSP00000347161:T93M	T	-	2	0	TSGA10	99088525	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.481000	0.81124	2.601000	0.87937	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	1	0	1	262	767	0	164	1	9.242184e-01	6	9	0	164	2		0	0	0	0	0	2	1	1	260	754	0	164	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MITD1	129531	broad.mit.edu	37	2	99786049	99786049	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99786049C>A	ENST00000289359.2	-	6	694	c.618G>T	c.(616-618)aaG>aaT	p.K206N	MITD1_ENST00000466880.1_5'Flank|MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1			6					CCCTTCCAATCTTAATCATCC	0.289000																								0							SO:0001583	missense			ENST00000289359.2	1	1	hg19	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852900	0.71719	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T	0.53640	0.61;0.64	5.64	2.41	0.29592	.	0.188632	0.53938	D	0.000050	T	0.68458	0.3003	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.68157	-0.5483	10	0.54805	T	0.06	-6.5332	8.9691	0.35894	0.0:0.7264:0.0:0.2736	.	206	Q8WV92	MITD1_HUMAN	N	188;206;177	ENSP00000289359:K206N;ENSP00000387316:K177N	ENSP00000289359:K206N	K	-	3	2	MITD1	99152481	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.449000	0.21744	0.297000	0.22615	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	1	0	1	99	330	0	98	1	1	44	98	0	98	2		0	0	0	0	0	2	1	1	98	327	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MITD1	129531	broad.mit.edu	37	2	99797352	99797352	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99797352A>G	ENST00000289359.2	-	1	169	c.93T>C	c.(91-93)taT>taC	p.Y31Y	MITD1_ENST00000466880.1_5'Flank|C2orf15_ENST00000512183.2_5'Flank|MRPL30_ENST00000338148.3_5'Flank|MRPL30_ENST00000409145.1_5'Flank|MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1			6					GAGCCTGCGGATACCGCGACT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000289359.2	1	1	hg19	CCDS2040.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	1	0	1	142	422	0	101	1	1	51	67	0	101	2		0	0	0	0	0	2	1	1	140	405	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYG2	254773	broad.mit.edu	37	2	99858877	99858877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99858877C>T	ENST00000409238.1	-	5	609	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000333017.2_Missense_Mutation_p.V197I			Q86SG7	LYG2_HUMAN	lysozyme G-like 2			12					ATATCATTGACGAAGTCATTG	0.463000																								0							SO:0001583	missense			ENST00000409238.1	1	1	hg19	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534530	0.27475	0.0	1.16E-4	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.22	1.12	0.20585	Lysozyme-like domain (1);	0.831283	0.10545	N	0.662243	T	0.35189	0.0923	M	0.68317	2.08	0.09310	N	1	B	0.21147	0.052	B	0.11329	0.006	T	0.31166	-0.9953	8	.	.	.	-11.8698	3.2272	0.06736	0.1853:0.513:0.0:0.3017	.	197	Q86SG7	LYG2_HUMAN	I	197	.	.	V	-	1	0	LYG2	99225309	0.039000	0.19947	0.001000	0.08648	0.521000	0.34408	0.511000	0.22739	0.353000	0.24079	0.563000	0.77884	GTC		TCGA-IB-7651-01A-11D-2154-08	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	1	0	1	126	617	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1	124	603	0	134	2								-20.000000	1	1	121412	14	44	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYG2	254773	broad.mit.edu	37	2	99863270	99863270	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99863270G>A	ENST00000409238.1	-	2	77	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LYG2_ENST00000409679.1_Silent_p.G19G|LYG2_ENST00000423800.1_Silent_p.G19G|LYG2_ENST00000333017.2_Silent_p.G19G			Q86SG7	LYG2_HUMAN	lysozyme G-like 2			12					AGGGGTATGAGCCCCTGGAAG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000409238.1	1	1	hg19	CCDS2042.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	0	0	1	69	340	1	85	0	1.372937e-01	0	4	1	85	2		0	0	0	0	0	2	1	1	67	334	1	85	16								-20.000000	1	1	121412	1	28	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYG1	129530	broad.mit.edu	37	2	99907721	99907721	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99907721G>A	ENST00000409448.1	-	6	628	c.312C>T	c.(310-312)ggC>ggT	p.G104G	LYG1_ENST00000308528.4_Silent_p.G104G			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1			7					TAGTCCTATCGCCCATGTTGA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000409448.1	1	1	hg19	CCDS2043.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	1	88	277	0	86	1	3.514673e-01	2	3	0	86	2		0	0	0	0	0	2	1	1	85	271	0	85	2								-4.925135	1	1	121412	2	35	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYG1	129530	broad.mit.edu	37	2	99909020	99909020	+	Missense_Mutation	SNP	G	G	A	rs149258901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909020G>A	ENST00000409448.1	-	5	443	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LYG1_ENST00000308528.4_Missense_Mutation_p.R43C			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1			7					AGGCCGTGACGTCTTCCAATC	0.512000																								0							SO:0001583	missense			ENST00000409448.1	1	1	hg19	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256644	0.10185	6.81E-4	1.16E-4	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	5.07	-0.638	0.11500	Lysozyme-like domain (1);	0.951849	0.08712	N	0.904759	T	0.29850	0.0746	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29243	-1.0018	8	.	.	.	-2.7594	1.3392	0.02151	0.2605:0.1757:0.4246:0.1392	.	43	Q8N1E2	LYG1_HUMAN	C	43	.	.	R	-	1	0	LYG1	99275452	0.152000	0.22762	0.007000	0.13788	0.007000	0.05969	1.098000	0.31000	0.013000	0.14918	-0.742000	0.03525	CGT		TCGA-IB-7651-01A-11D-2154-08	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	1	80	383	0	85	0	1.427302e-01	1	3	0	85	2		0	0	0	0	0	2	1	1	79	379	0	84	2								-20.000000	1	0	121412	43	49	1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYG1	129530	broad.mit.edu	37	2	99909057	99909057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909057G>A	ENST00000409448.1	-	5	406	c.90C>T	c.(88-90)agC>agT	p.S30S	LYG1_ENST00000308528.4_Silent_p.S30S			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1			7					GGGTGTCCAGGCTTTGGATGT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000409448.1	1	1	hg19	CCDS2043.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	0	126	323	0	96	0	0	0	1	0	96	2		0	0	0	0	0	2	1	1	124	318	0	94	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYG1	129530	broad.mit.edu	37	2	99909097	99909097	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909097G>T	ENST00000409448.1	-	5	366	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1			7					GCTGCTTTCAGACAAGTCTAC	0.423000																								0							SO:0001583	missense			ENST00000409448.1	1	1	hg19	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972393	0.34848	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.8	3.92	0.45320	.	0.526107	0.17509	N	0.171684	T	0.31040	0.0784	N	0.22421	0.69	0.24994	N	0.99152	P	0.43701	0.815	P	0.48840	0.592	T	0.06752	-1.0809	8	.	.	.	-6.9946	8.8058	0.34936	0.102:0.0:0.898:0.0	.	17	Q8N1E2	LYG1_HUMAN	Y	17	.	.	S	-	2	0	LYG1	99275529	0.872000	0.30054	0.663000	0.29738	0.167000	0.22549	2.662000	0.46766	1.251000	0.43983	-0.136000	0.14681	TCT		TCGA-IB-7651-01A-11D-2154-08	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	0	59	272	0	71	0	1.521465e-01	0	4	0	71	2		0	0	0	0	0	2	1	1	56	264	0	69	2								-20.000000	1	0	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF5B	9669	broad.mit.edu	37	2	99980843	99980843	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99980843G>T	ENST00000289371.6	+	6	1449	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B			31					AGAGAAGCCAGAGCCAGAGCC	0.398000													Colon(162;2388 2567 2705 3444)											0							SO:0001583	missense			ENST00000289371.6	1	1	hg19	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617668	0.87359	.	.	ENSG00000158417	ENST00000289371	T	0.51071	0.72	5.9	4.06	0.47325	.	.	.	.	.	T	0.51244	0.1663	M	0.79926	2.475	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.58070	-0.7701	8	.	.	.	-10.0582	12.1601	0.54099	0.0656:0.1197:0.8148:0.0	.	416	O60841	IF2P_HUMAN	I	416	ENSP00000289371:R416I	.	R	+	2	0	EIF5B	99347275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.325000	0.65869	1.488000	0.48433	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	1	0	1	101	558	0	169	1	1	98	303	0	169	2		0	0	0	0	0	2	1	1	101	546	0	169	2								-20.000000	1	1	0	0		1	1	2	3	2.195803	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOMM70A	9868	broad.mit.edu	37	3	100092477	100092477	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100092477G>T	ENST00000284320.5	-	8	1688	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)			32					ACTTGATCAAGGAGTATTTTC	0.358000																								0							SO:0001583	missense			ENST00000284320.5	1	1	hg19	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085829	0.76642	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.64991	-0.13	5.89	5.89	0.94794	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.76938	2.355	0.80722	D	1	P	0.51791	0.948	P	0.50570	0.644	T	0.74182	-0.3748	10	0.56958	D	0.05	-8.5736	13.4529	0.61182	0.0712:0.0:0.9288:0.0	.	414	O94826	TOM70_HUMAN	I	414;307	ENSP00000284320:L414I	ENSP00000284320:L414I	L	-	1	0	TOMM70A	101575167	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.954000	0.70298	2.783000	0.95769	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2	1	0	1	63	291	0	61	1	1	55	173	0	61	2		0	0	0	0	0	2	1	1	62	289	0	60	2								-2.996473	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOMM70A	9868	broad.mit.edu	37	3	100103350	100103350	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100103350T>A	ENST00000284320.5	-	4	1156	c.708A>T	c.(706-708)ggA>ggT	p.G236G		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)			32					CTTTCTCTTTTCCAAGGAGTT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000284320.5	1	1	hg19	CCDS33807.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2	1	0	1	68	333	0	67	1	1	54	185	0	67	2		0	0	0	0	0	2	1	1	69	328	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LNP1	348801	broad.mit.edu	37	3	100170652	100170652	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100170652A>G	ENST00000383693.3	+	3	1526	c.246A>G	c.(244-246)gtA>gtG	p.V82V	LNP1_ENST00000489752.1_Silent_p.V95V	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1			6					GTAGCCACGTACGGGATTACA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000383693.3	1	1	hg19	CCDS43120.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1	1	0	1	76	314	0	74	1	9.799761e-01	2	26	0	74	2		0	0	0	0	0	2	1	1	77	313	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM45A	55076	broad.mit.edu	37	3	100287799	100287799	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100287799C>A	ENST00000323523.4	+	5	1035	c.722C>A	c.(721-723)gCt>gAt	p.A241D	TMEM45A_ENST00000403410.1_Missense_Mutation_p.A257D	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A			11					ATGAATTATGCTTTCATTACC	0.353000																								0							SO:0001583	missense			ENST00000323523.4	1	1	hg19	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642226	0.29157	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.46819	0.86;0.86	5.81	1.73	0.24493	.	0.392722	0.31061	N	0.008325	T	0.52533	0.1740	M	0.75447	2.3	0.20563	N	0.999889	D	0.55800	0.973	P	0.52856	0.711	T	0.44143	-0.9347	10	0.36615	T	0.2	-2.4107	6.2562	0.20876	0.0:0.5907:0.1208:0.2885	.	241	Q9NWC5	TM45A_HUMAN	D	241;257	ENSP00000319009:A241D;ENSP00000385089:A257D	ENSP00000319009:A241D	A	+	2	0	TMEM45A	101770489	0.332000	0.24722	0.012000	0.15200	0.057000	0.15508	0.324000	0.19610	0.032000	0.15435	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	1	0	1	168	748	1	171	1	1	14	198	1	171	7		0	0	0	0	0	2	1	1	164	738	1	168	19								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR128	84873	broad.mit.edu	37	3	100378676	100378676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100378676G>A	ENST00000273352.3	+	14	2236	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q	GPR128_ENST00000475887.1_Silent_p.Q361Q|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128			56					AGAATAACCAGAACCTGACAA	0.438000													Pancreas(87;185 1975 7223 18722)											0							SO:0001819	synonymous_variant			ENST00000273352.3	1	1	hg19	CCDS2938.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1	1	0	1	48	258	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	47	255	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TFG	10342	broad.mit.edu	37	3	100432536	100432536	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100432536G>A	ENST00000240851.4	+	2	347	c.7G>A	c.(7-9)Gga>Aga	p.G3R	TFG_ENST00000490574.1_Missense_Mutation_p.G3R|TFG_ENST00000418917.2_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	p.G3*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	8					CACCATGAACGGACAGTTGGA	0.353000			T	NTRK1, ALK	papillary thyroid, ALCL, NSCLC										Dom	yes		3	3q11-q12	10342	TRK-fused gene		E, L	1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000240851.4	1	1	hg19	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102352	0.94245	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58880	-0.7558	10	0.62326	D	0.03	-10.1794	20.2985	0.98592	0.0:0.0:1.0:0.0	.	3;3	G5E9V1;Q92734	.;TFG_HUMAN	R	3	ENSP00000397182:G3R;ENSP00000419960:G3R;ENSP00000240851:G3R;ENSP00000419559:G3R;ENSP00000417952:G3R;ENSP00000419504:G3R;ENSP00000420797:G3R	ENSP00000240851:G3R	G	+	1	0	TFG	101915226	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.167000	0.94773	2.793000	0.96121	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	1	0	1	86	322	0	76	1	1	50	101	0	76	2		0	0	0	0	0	2	1	1	85	319	0	76	2								-3.014581	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFG	10342	broad.mit.edu	37	3	100447675	100447675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100447675G>T	ENST00000240851.4	+	4	728	c.388G>T	c.(388-390)Gga>Tga	p.G130*	TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*|TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	8					TGGAGAACCAGGACCTTCCAC	0.373000			T	NTRK1, ALK	papillary thyroid, ALCL, NSCLC										Dom	yes		3	3q11-q12	10342	TRK-fused gene		E, L	0							SO:0001587	stop_gained			ENST00000240851.4	0	1	hg19	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505062	0.85282	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	.	.	.	5.14	5.14	0.70334	.	0.047579	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.7445	18.9749	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	130	.	ENSP00000240851:G130X	G	+	1	0	TFG	101930365	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.133000	0.94460	2.527000	0.85204	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	1	0	0	83	384	0	134	1	1	3	312	0	134	2		0	0	0	0	0	2	1	1	83	379	0	133	2								-2.976683	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABI3BP	25890	broad.mit.edu	37	3	100484701	100484701	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100484701G>T	ENST00000284322.5	-	30	2810	c.2701C>A	c.(2701-2703)Ctg>Atg	p.L901M	ABI3BP_ENST00000471714.1_Missense_Mutation_p.L1603M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein			50					TTTGGTTTCAGATTTTCTACT	0.368000																								0							SO:0001583	missense			ENST00000284322.5	1	1	hg19	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514097	0.85389	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	D;D;D	0.84873	-1.91;-1.91;-1.91	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.95046	0.8182	10	0.87932	D	0	-11.0298	20.2963	0.98556	0.0:0.0:1.0:0.0	.	855;901;1603;610	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	M	1603;901;610;312;855	ENSP00000420524:L1603M;ENSP00000284322:L901M;ENSP00000373189:L855M	ENSP00000284322:L901M	L	-	1	2	ABI3BP	101967391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.566000	0.60843	2.813000	0.96785	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	1	0	1	16	53	0	17	1	9.999987e-01	2	95	0	17	2		0	0	0	0	0	2	1	9.999695e-01	16	53	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
ABI3BP	25890	broad.mit.edu	37	3	100493516	100493516	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100493516T>G	ENST00000284322.5	-	28	2440	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ABI3BP_ENST00000471714.1_Splice_Site_p.E1479D|ABI3BP_ENST00000383691.4_Splice_Site_p.E731D	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein			50					CAGTTATATTTTCTGAGAATG	0.333000																								0							SO:0001630	splice_region_variant			ENST00000284322.5	0	1	hg19	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.291|9.291	1.050645|1.050645	0.19827|0.19827	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000495591	T;T;T|.	0.23950|.	2.25;1.88;1.88|.	5.54|5.54	0.522|0.522	0.17053|0.17053	.|.	0.388069|.	0.29565|.	N|.	0.011793|.	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.02539|0.02539	-0.55|-0.55	0.23673|0.23673	N|N	0.997144|0.997144	B;B;B;B|.	0.15719|.	0.0;0.0;0.014;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.001|.	T|T	0.32455|0.32455	-0.9906|-0.9906	10|5	0.13108|.	T|.	0.6|.	.|.	4.9816|4.9816	0.14168|0.14168	0.6554:0.0:0.2149:0.1298|0.6554:0.0:0.2149:0.1298	.|.	731;777;1479;486|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	D|T	1479;777;486;188;731;189|833	ENSP00000420524:E1479D;ENSP00000284322:E777D;ENSP00000373189:E731D|.	ENSP00000284322:E777D|.	E|K	-|-	3|2	2|0	ABI3BP|ABI3BP	101976206|101976206	0.945000|0.945000	0.32115|0.32115	0.611000|0.611000	0.29010|0.29010	0.845000|0.845000	0.48019|0.48019	1.347000|1.347000	0.33975|0.33975	0.071000|0.071000	0.16664|0.16664	-0.710000|-0.710000	0.03640|0.03640	GAA|AAA		TCGA-IB-7651-01A-11D-2154-08	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	0	0	0	9	20	0	9	1	9.999862e-01	11	60	0	9	2		0	0	0	0	0	2	1	9.960654e-01	8	20	0	9	2								-19.898920	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999524	0.990000	1	9.900000e-01	1
ABI3BP	25890	broad.mit.edu	37	3	100565266	100565266	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100565266G>T	ENST00000284322.5	-	18	1656	c.1547C>A	c.(1546-1548)tCt>tAt	p.S516Y	ABI3BP_ENST00000471714.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000383691.4_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein			50					AGGTTTCAGAGAAATAAATTG	0.333000																								0							SO:0001583	missense			ENST00000284322.5	0	1	hg19	CCDS46880.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.82|14.82|14.82	2.650312|2.650312|2.650312	0.47362|0.47362|0.47362	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000466947|ENST00000495591;ENST00000528490;ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|.|T;T;T	.|.|0.59224	.|.|0.28;0.28;0.28	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|.|.	.|.|0.864209	.|.|0.10324	.|.|N	.|.|0.688353	T|T|T	0.60314|0.60314|0.60314	0.2259|0.2259|0.2259	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P	.|.|0.58620	.|.|0.983;0.94	.|.|P;P	.|.|0.58873	.|.|0.847;0.548	T|T|T	0.49143|0.49143|0.49143	-0.8970|-0.8970|-0.8970	5|5|10	.|.|0.02654	.|.|T	.|.|1	-0.434|-0.434|-0.434	12.4487|12.4487|12.4487	0.55666|0.55666|0.55666	0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0	.|.|.	.|.|565;516	.|.|Q5JPC9;Q7Z7G0	.|.|.;TARSH_HUMAN	L|I|Y	3|3;33;194|565;516;565	.|.|ENSP00000420524:S565Y;ENSP00000284322:S516Y;ENSP00000433993:S565Y	.|.|ENSP00000284322:S516Y	F|L|S	-|-|-	3|1|2	2|0|0	ABI3BP|ABI3BP|ABI3BP	102047956|102047956|102047956	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.925000|0.925000|0.925000	0.55904|0.55904|0.55904	3.106000|3.106000|3.106000	0.50322|0.50322|0.50322	2.787000|2.787000|2.787000	0.95880|0.95880|0.95880	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	TTC|CTC|TCT		TCGA-IB-7651-01A-11D-2154-08	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	0	0	1	4	34	0	14	1	9.802507e-01	9	63	0	14	2		0	0	0	0	0	2	1	8.939601e-01	4	34	0	14	2								-9.480615	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.450000	1.000000	1.000000	0.920563	0.990000	1	7.700000e-01	1
ABI3BP	25890	broad.mit.edu	37	3	100569529	100569529	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100569529A>G	ENST00000284322.5	-	14	1384	c.1275T>C	c.(1273-1275)acT>acC	p.T425T	ABI3BP_ENST00000471714.1_Silent_p.T474T|ABI3BP_ENST00000495063.1_Silent_p.T474T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein			50					GCTGTTCAAGAGTTCTAGAAG	0.353000																								0							SO:0001819	synonymous_variant			ENST00000284322.5	1	1	hg19	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.425|9.425	1.084092|1.084092	0.20309|0.20309	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000459682	.|.	.|.	.|.	5.87|5.87	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|T	0.60314|0.60314	0.2259|0.2259	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57505|0.57505	-0.7800|-0.7800	4|4	.|.	.|.	.|.	-11.1312|-11.1312	10.663|10.663	0.45712|0.45712	0.7473:0.0:0.0:0.2526|0.7473:0.0:0.0:0.2526	.|.	.|.	.|.	.|.	P|P	103|51	.|.	.|.	L|S	-|-	2|1	0|0	ABI3BP|ABI3BP	102052219|102052219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.996000|2.996000	0.49449|0.49449	1.131000|1.131000	0.42111|0.42111	0.533000|0.533000	0.62120|0.62120	CTC|TCT		TCGA-IB-7651-01A-11D-2154-08	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	0	0	1	53	268	1	59	1	9.494827e-01	10	53	1	59	6		0	0	0	0	0	2	1	9.999968e-01	53	262	1	59	18								-3.249642	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABI3BP	25890	broad.mit.edu	37	3	100645275	100645275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100645275G>A	ENST00000284322.5	-	2	260	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ABI3BP_ENST00000471714.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000532144.1_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein			50					AACTTCAAGAGGATGGAGTCA	0.448000																								0							SO:0001583	missense			ENST00000284322.5	1	1	hg19	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250444	0.22880	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.24538	2.05;1.85	5.55	-1.72	0.08107	.	0.439683	0.23856	N	0.043881	T	0.12178	0.0296	N	0.14661	0.345	0.51012	D	0.999903	B;B;B	0.11235	0.004;0.0;0.003	B;B;B	0.11329	0.006;0.002;0.004	T	0.11494	-1.0585	10	0.35671	T	0.21	-0.1114	8.3435	0.32258	0.5828:0.1163:0.3009:0.0	.	44;51;51	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	F	51	ENSP00000420524:L51F;ENSP00000284322:L51F	ENSP00000284322:L51F	L	-	1	0	ABI3BP	102127965	0.991000	0.36638	0.840000	0.33206	0.930000	0.56654	0.214000	0.17541	-0.757000	0.04697	-0.808000	0.03180	CTC		TCGA-IB-7651-01A-11D-2154-08	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1	1	0	1	43	196	0	45	0	9.986997e-01	1	48	0	45	2		0	0	0	0	0	2	1	1	43	191	0	44	2								-3.192799	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IMPG2	50939	broad.mit.edu	37	3	100976376	100976376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100976376T>C	ENST00000193391.7	-	10	1337	c.1150A>G	c.(1150-1152)Aat>Gat	p.N384D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2			64				Hyaluronan(DB08818)	AACTCACCATTGATAAGCTGC	0.373000																								0							SO:0001583	missense			ENST00000193391.7	1	1	hg19	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509095	0.64410	.	.	ENSG00000081148	ENST00000193391	T	0.27256	1.68	5.51	3.14	0.36123	.	0.396828	0.25984	N	0.027048	T	0.19167	0.0460	L	0.32530	0.975	0.28038	N	0.933874	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.12218	-1.0556	10	0.48119	T	0.1	.	10.4698	0.44629	0.0:0.089:0.0:0.911	.	384;384	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	D	384	ENSP00000193391:N384D	ENSP00000193391:N384D	N	-	1	0	IMPG2	102459066	1.000000	0.71417	0.931000	0.37212	0.975000	0.68041	2.900000	0.48687	0.397000	0.25310	0.379000	0.24179	AAT		TCGA-IB-7651-01A-11D-2154-08	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3	1	0	1	127	596	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	126	589	0	143	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP7	57337	broad.mit.edu	37	3	101047326	101047326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047326G>A	ENST00000394095.2	-	22	2913	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	p.R888*(2)		44					ACTTACTCTCGTAAATTCTGA	0.318000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000394095.2	0	1	hg19	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	39	7.580735	0.98371	0.0	1.16E-4	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	.	.	.	5.42	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8682	0.57951	0.0:0.0:0.752:0.248	.	.	.	.	X	954;889;888;790;790;142;921	.	ENSP00000313624:R888X	R	-	1	2	SENP7	102530016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.086000	0.30853	2.543000	0.85770	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1	80	354	0	121	1	9.916404e-01	4	31	0	121	2		0	0	0	0	0	2	1	1	78	351	0	121	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP7	57337	broad.mit.edu	37	3	101047522	101047522	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047522C>T	ENST00000394095.2	-	21	2816	c.2763G>A	c.(2761-2763)tcG>tcA	p.S921S	SENP7_ENST00000348610.3_Silent_p.S888S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000394091.1_Silent_p.S757S|SENP7_ENST00000394085.3_Silent_p.S109S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7			44					CTGACATATTCGACTCGGTAC	0.274000																								0							SO:0001819	synonymous_variant			ENST00000394095.2	1	1	hg19	CCDS2941.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1	27	101	0	37	1	9.970791e-01	6	32	0	37	2		0	0	0	0	0	2	1	1	27	100	0	37	2								-3.535185	1	1	121296	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FANCD2	2177	broad.mit.edu	37	3	10107141	10107141	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10107141G>A	ENST00000419585.1	+	24	2393	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000287647.3_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2			51					TGGAGAGACAGCATAACGGAA	0.428000			D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia D2	3	3p26	2177	Fanconi anemia, complementation group D2		L	0							SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000419585.1	1	1	hg19	CCDS33696.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	1	0	0	101	455	0	112	0	5.068308e-01	1	8	0	112	2		0	0	0	0	0	2	1	1	99	448	0	111	2								-3.290866	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP7	57337	broad.mit.edu	37	3	101085608	101085608	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101085608T>C	ENST00000394095.2	-	9	1037	c.984A>G	c.(982-984)aaA>aaG	p.K328K	SENP7_ENST00000348610.3_Silent_p.K295K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000394091.1_Silent_p.K164K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7			44					CATCTTCTTGTTTTTTCTAAA	0.274000																								0							SO:0001819	synonymous_variant			ENST00000394095.2	1	1	hg19	CCDS2941.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	0	21	214	0	27	0	6.938102e-01	1	25	0	27	2		0	0	0	0	0	2	1	9.999977e-01	21	210	0	27	2								-3.318796	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.680000	1.000000	1.000000	0.951075	0.990000	1	8.600000e-01	1
SENP7	57337	broad.mit.edu	37	3	101090890	101090890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101090890T>G	ENST00000394095.2	-	7	811	c.758A>C	c.(757-759)gAt>gCt	p.D253A	SENP7_ENST00000348610.3_Missense_Mutation_p.D220A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000394091.1_Missense_Mutation_p.D89A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7			44					AGAAATGCCATCATCCTTTCT	0.338000																								0							SO:0001583	missense			ENST00000394095.2	1	1	hg19	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	7.814	0.716243	0.15306	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.20598	2.06;2.08;2.09;2.07;2.07;2.07	5.1	1.29	0.21616	.	0.413140	0.20689	N	0.087483	T	0.16685	0.0401	L	0.56769	1.78	0.09310	N	1	P;B;B;B	0.42296	0.775;0.4;0.4;0.068	B;B;B;B	0.39660	0.306;0.173;0.124;0.009	T	0.12268	-1.0554	10	0.27082	T	0.32	-3.139	4.088	0.09957	0.0:0.1866:0.1797:0.6336	.	89;187;220;253	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	A	253;188;187;89;89;220	ENSP00000377655:D253A;ENSP00000377654:D188A;ENSP00000313624:D187A;ENSP00000377651:D89A;ENSP00000350936:D89A;ENSP00000342159:D220A	ENSP00000313624:D187A	D	-	2	0	SENP7	102573580	0.005000	0.15991	0.035000	0.18076	0.016000	0.09150	-0.050000	0.11904	0.044000	0.15775	0.477000	0.44152	GAT		TCGA-IB-7651-01A-11D-2154-08	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1	53	298	0	43	1	9.264719e-01	5	22	0	43	2		0	0	0	0	0	2	1	1	52	293	0	42	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SENP7	57337	broad.mit.edu	37	3	101136544	101136544	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101136544A>C	ENST00000394095.2	-	5	428	c.375T>G	c.(373-375)tgT>tgG	p.C125W	SENP7_ENST00000348610.3_Missense_Mutation_p.C92W|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000394091.1_Intron	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7			44					TGTTGGCATCACATAAATTAG	0.398000																								0							SO:0001583	missense			ENST00000394095.2	1	1	hg19	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	A	17.67	3.445967	0.63178	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	T;T;T	0.49432	0.78;0.78;0.78	5.52	3.06	0.35304	.	0.305274	0.28871	N	0.013865	T	0.58206	0.2106	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.962	T	0.56001	-0.8051	10	0.66056	D	0.02	-1.7906	7.2869	0.26344	0.7807:0.1453:0.074:0.0	.	92;125	Q9BQF6-2;Q9BQF6	.;SENP7_HUMAN	W	125;125;92	ENSP00000377655:C125W;ENSP00000377654:C125W;ENSP00000342159:C92W	ENSP00000342159:C92W	C	-	3	2	SENP7	102619234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.026000	0.57232	0.440000	0.26502	0.528000	0.53228	TGT		TCGA-IB-7651-01A-11D-2154-08	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	1	0	1	102	437	0	114	1	9.727017e-01	2	25	0	114	2		0	0	0	0	0	2	1	1	101	429	0	114	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FANCD2	2177	broad.mit.edu	37	3	10116274	10116274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10116274C>T	ENST00000419585.1	+	29	2937	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	FANCD2_ENST00000287647.3_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2			51					TGCTTTTTTCCGAGAGCTGGA	0.398000			D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia D2	3	3p26	2177	Fanconi anemia, complementation group D2		L	0							SO:0001587	stop_gained	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000419585.1	0	1	hg19	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	42	9.551584	0.99202	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6161	0.88068	0.0:1.0:0.0:0.0	.	.	.	.	X	926	.	ENSP00000287647:R926X	R	+	1	2	FANCD2	10091274	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.974000	0.63771	2.749000	0.94314	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	0	0	0	8	304	0	56	0	4.046276e-02	0	11	0	56	2		0	0	0	0	0	2	1	9.891889e-01	8	301	0	55	2								-2.886632	1	1	121412	2	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.320000	0.150000	1.000000	0.300000	0.371224	0.320000	0	2.200000e-01	4.700000e-01
ZBTB11	27107	broad.mit.edu	37	3	101373562	101373562	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101373562G>T	ENST00000312938.4	-	8	2875	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11			37					TACAATGATAGCCTCGAACCT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000312938.4	1	1	hg19	CCDS2943.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	1	0	1	83	425	0	80	1	9.965976e-01	13	33	0	80	2		0	0	0	0	0	2	1	1	83	410	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB11	27107	broad.mit.edu	37	3	101383834	101383834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101383834C>T	ENST00000312938.4	-	4	2177	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11			37					TTGGGAACGGCTTTCCGTTTC	0.408000																								0							SO:0001583	missense			ENST00000312938.4	1	1	hg19	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965285	0.34659	.	.	ENSG00000066422	ENST00000312938	T	0.11385	2.78	5.87	5.0	0.66597	.	0.316831	0.38663	N	0.001614	T	0.05914	0.0154	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.30078	T	0.28	-2.5424	7.5694	0.27898	0.0:0.7063:0.1389:0.1548	.	533	O95625	ZBT11_HUMAN	T	533	ENSP00000326200:A533T	ENSP00000326200:A533T	A	-	1	0	ZBTB11	102866524	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.273000	0.33121	1.496000	0.48567	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	1	0	1	136	553	0	135	1	9.999017e-01	13	43	0	135	2		0	0	0	0	0	2	1	1	135	541	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP97	79598	broad.mit.edu	37	3	101476949	101476949	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101476949G>A	ENST00000341893.3	+	9	2251	c.1499G>A	c.(1498-1500)aGt>aAt	p.S500N	CEP97_ENST00000327230.4_Missense_Mutation_p.S500N|CEP97_ENST00000494050.1_Missense_Mutation_p.S441N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa			29					GATAACCACAGTCTTACATTT	0.358000																								0							SO:0001583	missense			ENST00000341893.3	1	1	hg19	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	8.850	0.944259	0.18356	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.56103	0.62;0.58;0.48	4.85	0.626	0.17670	.	0.866657	0.10574	N	0.658817	T	0.33789	0.0875	L	0.32530	0.975	0.09310	N	1	B;B;B	0.15719	0.014;0.005;0.001	B;B;B	0.17979	0.02;0.007;0.003	T	0.22417	-1.0217	10	0.27082	T	0.32	-2.515	1.1628	0.01809	0.4022:0.1579:0.2951:0.1448	.	441;500;500	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	N	500;500;441	ENSP00000342510:S500N;ENSP00000325881:S500N;ENSP00000418185:S441N	ENSP00000325881:S500N	S	+	2	0	CEP97	102959639	0.000000	0.05858	0.334000	0.25495	0.709000	0.40893	-0.022000	0.12480	0.212000	0.20703	0.305000	0.20034	AGT		TCGA-IB-7651-01A-11D-2154-08	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	0	0	0	19	574	1	108	1	8.966794e-02	3	28	1	108	3		0	0	0	0	0	2	1	9.999880e-01	18	559	0	107	2								-16.497560	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.390000	0.230000	1.000000	0.370000	0.428394	0.390000	0	3.000000e-01	5.000000e-01
CEP97	79598	broad.mit.edu	37	3	101481366	101481366	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101481366T>A	ENST00000341893.3	+	10	2607	c.1855T>A	c.(1855-1857)Ttt>Att	p.F619I	CEP97_ENST00000327230.4_Missense_Mutation_p.F619I|CEP97_ENST00000494050.1_Missense_Mutation_p.F560I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	p.F619I(1)		29					TATTAAAAAATTTGTACAAGA	0.333000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000341893.3	1	1	hg19	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935430	0.52866	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.49720	0.86;0.81;0.77	5.56	-2.14	0.07123	.	0.301981	0.37136	N	0.002226	T	0.31857	0.0810	L	0.57536	1.79	0.28846	N	0.896345	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.09596	-1.0667	10	0.34782	T	0.22	-0.8876	0.957	0.01387	0.367:0.1601:0.3182:0.1548	.	560;619	E9PG22;Q8IW35	.;CEP97_HUMAN	I	619;619;560	ENSP00000342510:F619I;ENSP00000325881:F619I;ENSP00000418185:F560I	ENSP00000325881:F619I	F	+	1	0	CEP97	102964056	0.983000	0.35010	0.643000	0.29450	0.989000	0.77384	0.369000	0.20416	-0.252000	0.09528	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	1	0	1	81	276	0	53	1	9.917822e-01	8	20	0	53	2		0	0	0	0	0	2	1	1	79	271	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFKBIZ	64332	broad.mit.edu	37	3	101570965	101570965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101570965G>A	ENST00000326172.5	+	2	441	c.326G>A	c.(325-327)gGc>gAc	p.G109D	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta			24					CAGCAGAGAGGCCCCTTTCAA	0.433000																								0							SO:0001583	missense			ENST00000326172.5	1	1	hg19	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066465	0.76187	.	.	ENSG00000144802	ENST00000461724;ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;D;T	0.83163	-1.34;-1.39;-1.69;-1.39	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	D	0.87581	0.6213	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.88539	0.3108	10	0.66056	D	0.02	-22.1952	19.0279	0.92941	0.0:0.0:1.0:0.0	.	109;109	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	D	109;9;9;109;109;9	ENSP00000419800:G9D;ENSP00000377618:G9D;ENSP00000325593:G109D;ENSP00000325663:G109D	ENSP00000325593:G109D	G	+	2	0	NFKBIZ	103053655	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.314000	0.78988	2.584000	0.87258	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	1	0	1	130	503	0	117	0	6.400129e-01	0	10	0	117	2		0	0	0	0	0	2	1	1	128	494	0	117	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TATDN2	9797	broad.mit.edu	37	3	10291033	10291033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10291033G>T	ENST00000287652.4	+	2	1200	c.149G>T	c.(148-150)aGc>aTc	p.S50I	RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2			28					GGAGGGCCCAGCAGCCCCAAG	0.667000																								0							SO:0001583	missense			ENST00000287652.4	1	1	hg19	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596076	0.28445	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.25250	1.81;1.81	4.16	4.16	0.48862	.	.	.	.	.	T	0.28863	0.0716	L	0.57536	1.79	0.28926	N	0.891843	B	0.32693	0.38	B	0.34180	0.177	T	0.24048	-1.0171	9	0.87932	D	0	-5.437	12.1708	0.54157	0.0:0.0:1.0:0.0	.	50	Q93075	TATD2_HUMAN	I	50	ENSP00000287652:S50I;ENSP00000408736:S50I	ENSP00000287652:S50I	S	+	2	0	TATDN2	10266033	0.805000	0.28982	0.883000	0.34634	0.029000	0.11900	1.465000	0.35299	2.304000	0.77564	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	1	0	1	140	619	0	128	1	9.999998e-01	16	80	0	128	2		0	0	0	0	0	2	1	1	137	614	0	123	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TATDN2	9797	broad.mit.edu	37	3	10312335	10312335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10312335G>A	ENST00000287652.4	+	4	2520	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2			28					CTGGAGCCAAGCCTAGAGGAG	0.498000																								0							SO:0001583	missense			ENST00000287652.4	1	1	hg19	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495864	0.26774	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.23950	1.88;1.88	5.0	2.21	0.28008	.	1.020500	0.07845	N	0.963704	T	0.17023	0.0409	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28808	-1.0032	10	0.54805	T	0.06	-3.2363	3.5254	0.07757	0.2796:0.0:0.5426:0.1779	.	490	Q93075	TATD2_HUMAN	N	490	ENSP00000287652:S490N;ENSP00000408736:S490N	ENSP00000287652:S490N	S	+	2	0	TATDN2	10287335	0.012000	0.17670	0.117000	0.21633	0.411000	0.31082	0.275000	0.18698	0.638000	0.30545	0.644000	0.83932	AGC		TCGA-IB-7651-01A-11D-2154-08	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	1	0	1	66	273	0	62	1	9.999998e-01	13	85	0	62	2		0	0	0	0	0	2	1	1	65	267	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC13	6396	broad.mit.edu	37	3	10342953	10342953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10342953C>T	ENST00000350697.3	-	9	1086	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SEC13_ENST00000383801.2_Missense_Mutation_p.E367K|SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000492602.1_Intron|SEC13_ENST00000397117.1_Intron	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)			17					TGTCACTGCTCGTTCTGCTGG	0.607000																								0							SO:0001583	missense			ENST00000350697.3	1	1	hg19	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616837	0.87359	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	T;T;T;T	0.68479	0.93;-0.21;-0.33;-0.33	5.23	5.23	0.72850	.	0.102103	0.64402	D	0.000002	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;B	0.38827	0.649;0.203	B;B	0.28991	0.097;0.012	T	0.65869	-0.6063	10	0.62326	D	0.03	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	367;321	B4DXJ1;P55735	.;SEC13_HUMAN	K	307;324;321;367	ENSP00000380298:E307K;ENSP00000336566:E324K;ENSP00000312122:E321K;ENSP00000373312:E367K	ENSP00000336566:E324K	E	-	1	0	SEC13	10317953	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3	1	0	1	88	346	0	89	1	1	195	564	0	89	2		0	0	0	0	0	2	1	1	87	339	0	86	2								-3.390273	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC13	6396	broad.mit.edu	37	3	10354403	10354403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10354403G>T	ENST00000350697.3	-	4	301	c.176C>A	c.(175-177)cCt>cAt	p.P59H	SEC13_ENST00000383801.2_Missense_Mutation_p.P105H|SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000397109.3_Missense_Mutation_p.P45H|SEC13_ENST00000397117.1_Missense_Mutation_p.P45H	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)			17					TTGCCACACAGGACCCTCATG	0.537000																								0							SO:0001583	missense			ENST00000350697.3	1	1	hg19	CCDS2599.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672335	0.88348	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105;ENST00000431352	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.67569	2.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80303	-0.1439	10	0.87932	D	0	.	15.6632	0.77206	0.0:0.0:1.0:0.0	.	59;59;45;105;59	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	H	45;62;59;45;105;59;62	ENSP00000380298:P45H;ENSP00000336566:P62H;ENSP00000312122:P59H;ENSP00000380306:P45H;ENSP00000373312:P105H;ENSP00000401368:P62H	ENSP00000336566:P62H	P	-	2	0	SEC13	10329403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.715000	0.98748	2.276000	0.75962	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3	0	0	1	81	377	1	89	1	1	136	465	1	89	22		0	0	0	0	0	2	1	1	79	369	1	88	17								-3.371160	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2B2	491	broad.mit.edu	37	3	10400486	10400486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10400486G>A	ENST00000352432.4	-	13	2094	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	ATP2B2_ENST00000397077.1_Silent_p.A630A|ATP2B2_ENST00000383800.4_Silent_p.A630A|ATP2B2_ENST00000360273.2_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2			74					AGTCGCGGTAGGCCACGCAGA	0.632000													Ovarian(125;1619 1709 15675 19819 38835)											0							SO:0001819	synonymous_variant			ENST00000352432.4	1	1	hg19	CCDS33701.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	1	0	1	62	256	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	63	253	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2B2	491	broad.mit.edu	37	3	10401761	10401761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10401761G>A	ENST00000352432.4	-	12	1775	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.T524M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2			74					GCCGCACTCCGTCTTGTTGCC	0.647000													Ovarian(125;1619 1709 15675 19819 38835)											0							SO:0001583	missense			ENST00000352432.4	1	1	hg19	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897289	0.91962	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.93	4.93	0.64822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90614	0.4554	10	0.87932	D	0	-23.7022	18.1486	0.89667	0.0:0.0:1.0:0.0	.	504;536;569	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	569;524;524;569;555;504;425;569	ENSP00000324172:T569M;ENSP00000373311:T524M;ENSP00000380267:T524M;ENSP00000353414:T569M;ENSP00000344677:T555M;ENSP00000414854:T425M	ENSP00000342954:T569M	T	-	2	0	ATP2B2	10376761	1.000000	0.71417	0.955000	0.39395	0.995000	0.86356	9.860000	0.99555	2.272000	0.75746	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	1	0	1	81	344	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	79	337	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBLB	868	broad.mit.edu	37	3	105572504	105572504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:105572504C>T	ENST00000264122.4	-	3	494	c.173G>A	c.(172-174)aGa>aAa	p.R58K	CBLB_ENST00000394027.3_Missense_Mutation_p.R80K|CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000403724.1_Missense_Mutation_p.R58K|CBLB_ENST00000545639.1_Missense_Mutation_p.R80K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase			49					TTGGCACAGTCTTACCTAAAA	0.274000			Mis S		AML								GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0							SO:0001583	missense			ENST00000264122.4	1	1	hg19	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432187	0.43122	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.83	5.83	0.93111	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	N	0.04355	-0.22	0.80722	D	1	P;P;B	0.49696	0.927;0.911;0.044	D;D;B	0.67725	0.953;0.921;0.161	T	0.81371	-0.0963	10	0.87932	D	0	-20.2561	20.126	0.97982	0.0:1.0:0.0:0.0	.	80;58;58	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	K	58;80;58;58;80;80;58;58	ENSP00000264122:R58K;ENSP00000377595:R80K;ENSP00000384816:R58K;ENSP00000384938:R58K;ENSP00000446116:R80K;ENSP00000409750:R80K;ENSP00000400949:R58K;ENSP00000393906:R58K	ENSP00000264122:R58K	R	-	2	0	CBLB	107055194	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.272000	0.78516	2.749000	0.94314	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	1	0	1	44	169	0	38	1	9.999988e-01	13	71	0	38	2		0	0	0	0	0	2	1	1	44	166	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT57	55081	broad.mit.edu	37	3	107885720	107885720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107885720G>A	ENST00000264538.3	-	8	1209	c.962C>T	c.(961-963)gCt>gTt	p.A321V	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57			14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		CTGGGCTTGAGCTGCACGATA	0.368000																								0							SO:0001583	missense			ENST00000264538.3	1	1	hg19	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185475	0.09495	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.48	4.59	0.56863	.	0.152367	0.64402	D	0.000019	T	0.42108	0.1188	N	0.25426	0.745	0.50171	D	0.999854	B	0.15930	0.015	B	0.18561	0.022	T	0.24835	-1.0149	9	0.30854	T	0.27	.	10.3105	0.43706	0.1468:0.0:0.8532:0.0	.	321	Q9NWB7	IFT57_HUMAN	V	321	.	ENSP00000264538:A321V	A	-	2	0	IFT57	109368410	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	4.848000	0.62874	2.735000	0.93741	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	1	0	1	46	183	0	46	1	1	63	199	0	46	2		0	0	0	0	0	2	1	1	44	181	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH15	22989	broad.mit.edu	37	3	108133184	108133184	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108133184G>T	ENST00000273353.3	-	31	4156	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15			105					GTGCAGCTCAGCCTTGACCTC	0.507000																								0							SO:0001583	missense			ENST00000273353.3	1	1	hg19	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072263	0.55646	.	.	ENSG00000144821	ENST00000273353	T	0.78707	-1.2	5.26	1.22	0.21188	Myosin tail (1);	.	.	.	.	T	0.81235	0.4780	M	0.76838	2.35	0.39373	D	0.966114	P	0.37276	0.589	P	0.47786	0.557	T	0.79276	-0.1870	9	0.87932	D	0	.	8.4031	0.32599	0.1342:0.2374:0.6284:0.0	.	1367	Q9Y2K3	MYH15_HUMAN	D	1367	ENSP00000273353:A1367D	ENSP00000273353:A1367D	A	-	2	0	MYH15	109615874	0.589000	0.26807	0.024000	0.17045	0.616000	0.37450	1.068000	0.30629	0.004000	0.14682	-0.150000	0.13652	GCT		TCGA-IB-7651-01A-11D-2154-08	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	1	33	242	0	43	0	7.755868e-02	1	3	0	43	2		0	0	0	0	0	2	1	1	32	239	0	42	2								-14.594460	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998647	0.990000	1	9.900000e-01	1
MYH15	22989	broad.mit.edu	37	3	108183499	108183499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108183499G>A	ENST00000273353.3	-	16	1833	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15			105					CCTGCATAATGGACAAGTTCA	0.413000																								0							SO:0001583	missense			ENST00000273353.3	1	1	hg19	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829857	0.71258	.	.	ENSG00000144821	ENST00000273353	D	0.97066	-4.23	5.53	4.66	0.58398	Myosin head, motor domain (2);	.	.	.	.	D	0.99354	0.9773	H	0.99981	5.2	0.51233	D	0.999912	D	0.89917	1.0	D	0.97110	1.0	D	0.97639	1.0147	9	0.87932	D	0	.	14.1231	0.65203	0.0722:0.0:0.9278:0.0	.	593	Q9Y2K3	MYH15_HUMAN	Y	593	ENSP00000273353:H593Y	ENSP00000273353:H593Y	H	-	1	0	MYH15	109666189	1.000000	0.71417	0.326000	0.25389	0.809000	0.45718	7.441000	0.80485	1.344000	0.45657	0.655000	0.94253	CAT		TCGA-IB-7651-01A-11D-2154-08	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	1	145	648	0	189		0	0	0	0	189	2		0	0	0	0	0	2	1	1	144	640	0	188	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH15	22989	broad.mit.edu	37	3	108214643	108214643	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214643T>C	ENST00000273353.3	-	8	811	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15			105					AGAGGAGTTGTCATTTCTCAG	0.348000																								0							SO:0001583	missense			ENST00000273353.3	1	1	hg19	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408928	0.83340	.	.	ENSG00000144821	ENST00000273353	D	0.88975	-2.45	5.03	5.03	0.67393	Myosin head, motor domain (3);	.	.	.	.	D	0.97090	0.9049	H	0.99368	4.535	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.98720	1.0708	9	0.87932	D	0	.	14.7471	0.69496	0.0:0.0:0.0:1.0	.	252	Q9Y2K3	MYH15_HUMAN	G	252	ENSP00000273353:D252G	ENSP00000273353:D252G	D	-	2	0	MYH15	109697333	1.000000	0.71417	0.717000	0.30585	0.983000	0.72400	3.912000	0.56386	2.027000	0.59764	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	1	17	102	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	9.999761e-01	17	101	0	25	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998312	0.990000	1	9.900000e-01	1
MYH15	22989	broad.mit.edu	37	3	108214691	108214691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214691G>A	ENST00000273353.3	-	8	763	c.707C>T	c.(706-708)gCg>gTg	p.A236V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15			105					GATAGTATTCGCTTGCATGAT	0.383000																								0							SO:0001583	missense			ENST00000273353.3	1	1	hg19	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093275	0.20471	.	.	ENSG00000144821	ENST00000273353	T	0.73047	-0.71	4.84	-1.61	0.08399	Myosin head, motor domain (2);	.	.	.	.	T	0.66557	0.2801	M	0.74881	2.28	0.28598	N	0.909315	B	0.27192	0.171	B	0.24541	0.054	T	0.60747	-0.7202	9	0.52906	T	0.07	.	10.1362	0.42708	0.4652:0.0:0.5348:0.0	.	236	Q9Y2K3	MYH15_HUMAN	V	236	ENSP00000273353:A236V	ENSP00000273353:A236V	A	-	2	0	MYH15	109697381	0.649000	0.27322	0.002000	0.10522	0.060000	0.15804	2.968000	0.49224	-0.219000	0.10003	-1.099000	0.02127	GCG		TCGA-IB-7651-01A-11D-2154-08	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	1	0	1	24	70	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.999999e-01	24	67	0	32	2								-19.332150	1	0	120806	3	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KIAA1524	57650	broad.mit.edu	37	3	108308205	108308205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108308205G>T	ENST00000295746.8	-	1	94	c.18C>A	c.(16-18)tgC>tgA	p.C6*	KIAA1524_ENST00000487834.1_5'UTR|DZIP3_ENST00000361582.3_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524			38					AGGACTTCAAGCAGGCAGTGG	0.602000																								0							SO:0001587	stop_gained			ENST00000295746.8	0	1	hg19	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202310	0.79127	.	.	ENSG00000163507	ENST00000295746	.	.	.	5.14	3.34	0.38264	.	0.161155	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8924	9.5041	0.39035	0.2272:0.0:0.7728:0.0	.	.	.	.	X	6	.	ENSP00000295746:C6X	C	-	3	2	KIAA1524	109790895	0.956000	0.32656	1.000000	0.80357	0.359000	0.29487	0.586000	0.23894	1.531000	0.49152	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	1	0	1	27	92	0	27	1	8.253344e-01	2	11	0	27	2		0	0	0	0	0	2	1	1	27	91	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DZIP3	9666	broad.mit.edu	37	3	108335411	108335411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108335411G>A	ENST00000361582.3	+	5	512	c.282G>A	c.(280-282)caG>caA	p.Q94Q	DZIP3_ENST00000463306.1_Silent_p.Q94Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3			45					CTAACAGCCAGAATGGTGAGG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000361582.3	1	1	hg19	CCDS2952.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	1	0	1	76	350	0	96	1	9.076736e-01	8	13	0	96	2		0	0	0	0	0	2	1	1	74	345	0	96	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DZIP3	9666	broad.mit.edu	37	3	108363438	108363438	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108363438G>A	ENST00000361582.3	+	14	1799	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	DZIP3_ENST00000463306.1_Silent_p.E523E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3			45					GTCTCACTGAGTCACAGTTCA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000361582.3	1	1	hg19	CCDS2952.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	0	0	0	16	476	0	98	0	1.763752e-01	1	21	0	98	2		0	0	0	0	0	2	1	9.999206e-01	16	464	0	97	2								-3.821728	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.390000	0.230000	1.000000	0.390000	0.436632	0.390000	0	3.000000e-01	5.200000e-01
DZIP3	9666	broad.mit.edu	37	3	108366893	108366893	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108366893A>C	ENST00000361582.3	+	16	2126	c.1896A>C	c.(1894-1896)gaA>gaC	p.E632D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3			45					AGTTTGCAGAAATTAATAAAG	0.348000																								0							SO:0001583	missense			ENST00000361582.3	1	1	hg19	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380981	0.61845	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.33216	1.42;1.42;1.42	5.09	3.89	0.44902	.	0.000000	0.64402	D	0.000020	T	0.42787	0.1218	L	0.47716	1.5	0.29496	N	0.855292	D;D;D	0.67145	0.984;0.996;0.993	D;D;D	0.75484	0.956;0.986;0.967	T	0.27806	-1.0063	10	0.36615	T	0.2	-17.6589	7.8465	0.29428	0.9054:0.0:0.0946:0.0	.	250;632;632	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	D	632	ENSP00000355028:E632D;ENSP00000418115:E632D;ENSP00000419981:E632D	ENSP00000355028:E632D	E	+	3	2	DZIP3	109849583	0.999000	0.42202	1.000000	0.80357	0.721000	0.41392	0.708000	0.25719	0.919000	0.36945	0.524000	0.50904	GAA		TCGA-IB-7651-01A-11D-2154-08	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	1	0	1	96	413	0	100	1	9.987591e-01	17	28	0	100	2		0	0	0	0	0	2	1	1	95	405	0	100	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DZIP3	9666	broad.mit.edu	37	3	108381086	108381086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108381086G>A	ENST00000361582.3	+	21	2635	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	p.G802E(1)		45					GTTGCTTTTGGAATCAATAAG	0.333000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000361582.3	1	1	hg19	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659901	0.67586	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83419	-1.72;-1.72	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000085	D	0.86760	0.6010	L	0.47716	1.5	0.40099	D	0.976346	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.83365	0.0004	10	0.20519	T	0.43	-18.2322	13.8682	0.63600	0.0:0.0:1.0:0.0	.	420;802	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	802	ENSP00000355028:G802E;ENSP00000419981:G802E	ENSP00000355028:G802E	G	+	2	0	DZIP3	109863776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.235000	0.58666	2.644000	0.89710	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	1	0	1	16	108	0	23	1	9.658616e-01	10	31	0	23	2		0	0	0	0	0	2	1	9.999507e-01	16	107	0	23	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.920000	1.000000	1.000000	0.995285	0.990000	1	9.900000e-01	1
RETNLB	84666	broad.mit.edu	37	3	108474713	108474713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474713C>T	ENST00000295755.6	-	3	446	c.248G>A	c.(247-249)gGt>gAt	p.G83D	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta			16					ATCCCACGAACCACAGCCATA	0.577000																								0							SO:0001583	missense			ENST00000295755.6	0	1	hg19	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177731	0.57692	.	.	ENSG00000163515	ENST00000295755	T	0.69561	-0.41	4.14	4.14	0.48551	.	0.000000	0.47455	D	0.000233	T	0.80470	0.4629	M	0.76170	2.325	0.41702	D	0.989409	D	0.89917	1.0	D	0.97110	1.0	D	0.83644	0.0152	10	0.87932	D	0	-12.9978	13.9194	0.63921	0.0:1.0:0.0:0.0	.	83	Q9BQ08	RETNB_HUMAN	D	83	ENSP00000295755:G83D	ENSP00000295755:G83D	G	-	2	0	RETNLB	109957403	1.000000	0.71417	0.952000	0.39060	0.381000	0.30169	3.772000	0.55325	2.128000	0.65567	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1	0	0	0	10	399	0	92	1	7.316916e-03	2	3	0	92	2		0	0	0	0	0	2	1	9.966423e-01	10	391	0	90	2								-9.836571	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.300000	0.150000	1.000000	0.290000	0.351396	0.300000	0	2.100000e-01	4.300000e-01
RETNLB	84666	broad.mit.edu	37	3	108474750	108474750	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474750T>C	ENST00000295755.6	-	3	409	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta			16					GTGACAGCCATCCCTGCATGA	0.547000																								0							SO:0001583	missense			ENST00000295755.6	1	1	hg19	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	T	7.784	0.710092	0.15239	.	.	ENSG00000163515	ENST00000295755	T	0.41758	0.99	3.7	0.923	0.19413	.	1.356200	0.05180	N	0.501095	T	0.37598	0.1009	L	0.43923	1.385	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.40156	-0.9578	10	0.52906	T	0.07	-1.0885	7.1581	0.25649	0.3937:0.0:0.0:0.6063	.	71	Q9BQ08	RETNB_HUMAN	V	71	ENSP00000295755:M71V	ENSP00000295755:M71V	M	-	1	0	RETNLB	109957440	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	0.404000	0.20999	0.475000	0.27415	0.459000	0.35465	ATG		TCGA-IB-7651-01A-11D-2154-08	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1	0	0	0	13	332	0	92	0	9.808066e-03	1	3	0	92	2		0	0	0	0	0	2	1	9.995121e-01	13	327	0	91	2								-13.898380	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.460000	0.250000	1.000000	0.440000	0.500449	0.460000	0	3.400000e-01	6.300000e-01
GUCA1C	9626	broad.mit.edu	37	3	108634989	108634989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108634989C>T	ENST00000261047.3	-	3	559	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N|GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	p.D143Y(1)		14					TTGTTTATATCGATCTTATGG	0.418000													NSCLC(157;1360 1999 30631 40189 44208)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000261047.3	1	1	hg19	CCDS2954.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179294	0.57800	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	D;D;D	0.90955	-2.76;-2.76;-2.76	4.32	0.218	0.15270	EF-hand-like domain (1);	0.272597	0.40385	N	0.001114	D	0.95705	0.8603	H	0.97158	3.95	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.811	D	0.88836	0.3309	10	0.87932	D	0	.	5.8719	0.18809	0.0:0.5256:0.2963:0.1781	.	143;143	C9JNI2;O95843	.;GUC1C_HUMAN	N	143	ENSP00000377535:D143N;ENSP00000261047:D143N;ENSP00000417761:D143N	ENSP00000261047:D143N	D	-	1	0	GUCA1C	110117679	0.668000	0.27493	0.000000	0.03702	0.792000	0.44763	1.525000	0.35953	-0.203000	0.10251	0.651000	0.88453	GAT		TCGA-IB-7651-01A-11D-2154-08	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	1	0	1	86	404	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1	84	400	0	113	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MORC1	27136	broad.mit.edu	37	3	108703566	108703566	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108703566T>C	ENST00000483760.1	-	22	2301	c.2258A>G	c.(2257-2259)aAa>aGa	p.K753R	MORC1_ENST00000232603.5_Missense_Mutation_p.K774R					MORC family CW-type zinc finger 1			105					CACTCACCTTTTCCAGCTAGG	0.338000																								0							SO:0001583	missense			ENST00000483760.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.23	2.174800	0.38413	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.07688	3.21;3.17	5.49	4.35	0.52113	.	2.220440	0.01806	N	0.033169	T	0.08582	0.0213	N	0.24115	0.695	0.21967	N	0.999446	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.26677	-1.0096	10	0.46703	T	0.11	.	7.8604	0.29506	0.0:0.0906:0.0:0.9094	.	753;774	E7ERX1;Q86VD1	.;MORC1_HUMAN	R	774;753	ENSP00000232603:K774R;ENSP00000417282:K753R	ENSP00000232603:K774R	K	-	2	0	MORC1	110186256	0.922000	0.31269	0.817000	0.32601	0.753000	0.42808	1.323000	0.33701	1.116000	0.41820	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	1	43	143	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	42	143	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MORC1	27136	broad.mit.edu	37	3	108724083	108724083	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108724083G>A	ENST00000483760.1	-	18	1827	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	MORC1_ENST00000232603.5_Missense_Mutation_p.A616V					MORC family CW-type zinc finger 1			105					TCTACGGCTCGCTGAAAGCTC	0.363000																								0							SO:0001583	missense			ENST00000483760.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196536	0.01594	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05649	3.46;3.41	4.36	-0.911	0.10507	.	1.681880	0.03430	N	0.207656	T	0.02119	0.0066	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39761	-0.9598	10	0.09843	T	0.71	2.5591	3.2697	0.06878	0.5113:0.0:0.2992:0.1894	.	595;616	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	616;595	ENSP00000232603:A616V;ENSP00000417282:A595V	ENSP00000232603:A616V	A	-	2	0	MORC1	110206773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.416000	0.21198	-0.141000	0.11374	-0.295000	0.09555	GCG		TCGA-IB-7651-01A-11D-2154-08	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	0	15	306	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	9.998783e-01	14	306	0	42	2								-1.594721	0	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.570000	0.330000	1.000000	0.540000	0.600905	0.570000	0	4.300000e-01	7.500000e-01
MORC1	27136	broad.mit.edu	37	3	108778706	108778706	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108778706C>A	ENST00000483760.1	-	12	1021	c.978G>T	c.(976-978)caG>caT	p.Q326H	MORC1_ENST00000232603.5_Missense_Mutation_p.Q326H					MORC family CW-type zinc finger 1			105					CCAAAGCTCTCTGTAATACAT	0.353000																								0							SO:0001583	missense			ENST00000483760.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.56	1.673784	0.29693	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06218	3.33;3.34	5.02	1.29	0.21616	.	0.730120	0.11841	N	0.524317	T	0.15132	0.0365	M	0.63428	1.95	0.27887	N	0.93948	D;D	0.67145	0.996;0.99	P;P	0.58820	0.846;0.827	T	0.10359	-1.0633	10	0.45353	T	0.12	0.2174	7.7351	0.28810	0.0:0.6924:0.0:0.3076	.	326;326	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	326	ENSP00000232603:Q326H;ENSP00000417282:Q326H	ENSP00000232603:Q326H	Q	-	3	2	MORC1	110261396	1.000000	0.71417	0.573000	0.28510	0.944000	0.59088	1.231000	0.32624	0.053000	0.16036	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	1	28	194	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	28	188	0	56	2								-3.222913	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998826	0.990000	1	9.900000e-01	1
MORC1	27136	broad.mit.edu	37	3	108818260	108818260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108818260G>A	ENST00000483760.1	-	6	411	c.368C>T	c.(367-369)aCg>aTg	p.T123M	MORC1_ENST00000232603.5_Missense_Mutation_p.T123M|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1			105					ACAGGTCATCGTTTCTTCCTT	0.343000																								0							SO:0001583	missense			ENST00000483760.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.58	3.161618	0.57368	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95001	-3.58;-3.58	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (3);	0.000000	0.50627	D	0.000108	D	0.96917	0.8993	M	0.78916	2.43	0.29482	N	0.856305	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.93587	0.6918	10	0.66056	D	0.02	-13.7836	15.6854	0.77405	0.0:0.0:1.0:0.0	.	123;123	E7ERX1;Q86VD1	.;MORC1_HUMAN	M	123	ENSP00000232603:T123M;ENSP00000417282:T123M	ENSP00000232603:T123M	T	-	2	0	MORC1	110300950	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	4.018000	0.57174	2.643000	0.89663	0.555000	0.69702	ACG		TCGA-IB-7651-01A-11D-2154-08	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	1	41	190	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	39	187	0	59	2								-19.999630	1	1	121404	1	19	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPPA2	151871	broad.mit.edu	37	3	109026937	109026937	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:109026937C>A	ENST00000478945.1	-	6	846	c.600G>T	c.(598-600)aaG>aaT	p.K200N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	p.K200K(1)		32					AATTCAAAGCCTTAGGCTGAA	0.463000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000478945.1	1	1	hg19	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502876	0.44558	.	.	ENSG00000163530	ENST00000478945	T	0.58358	0.34	4.43	2.29	0.28610	.	0.205916	0.34460	N	0.003947	T	0.58278	0.2111	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	D	0.63793	0.918	T	0.47586	-0.9106	10	0.66056	D	0.02	-10.1475	4.4885	0.11801	0.0:0.6333:0.2128:0.1539	.	200	Q7Z7J5	DPPA2_HUMAN	N	200	ENSP00000417710:K200N	ENSP00000417710:K200N	K	-	3	2	DPPA2	110509627	0.000000	0.05858	0.013000	0.15412	0.163000	0.22366	0.097000	0.15168	0.589000	0.29677	0.555000	0.69702	AAG		TCGA-IB-7651-01A-11D-2154-08	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	1	0	1	64	264	0	56	0	3.927492e-02	1	1	0	56	2		0	0	0	0	0	2	1	1	62	261	0	54	2								-3.390027	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A11	6538	broad.mit.edu	37	3	10953823	10953823	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10953823C>A	ENST00000254488.2	+	7	1006	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11			35				Clobazam(DB00349)	TGCCATTTGCCTGGGCTGTCT	0.493000																								0							SO:0001583	missense			ENST00000254488.2	1	1	hg19	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718187	0.68844	.	.	ENSG00000132164	ENST00000254488	T	0.76839	-1.05	4.78	3.89	0.44902	.	0.000000	0.64402	D	0.000002	T	0.81721	0.4882	M	0.73372	2.23	0.80722	D	1	P	0.43701	0.815	P	0.50537	0.643	D	0.84237	0.0470	10	0.72032	D	0.01	.	12.3503	0.55144	0.0:0.9177:0.0:0.0822	.	314	P48066	S6A11_HUMAN	M	314	ENSP00000254488:L314M	ENSP00000254488:L314M	L	+	1	2	SLC6A11	10928823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.717000	0.47227	2.189000	0.69895	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	1	0	1	143	650	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1	139	637	0	132	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A11	6538	broad.mit.edu	37	3	10970960	10970960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10970960C>T	ENST00000254488.2	+	10	1372	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11			35				Clobazam(DB00349)	GGGTTACCGGCGGGAGCTGCT	0.552000																								0							SO:0001583	missense			ENST00000254488.2	1	1	hg19	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772455	0.69992	.	.	ENSG00000132164	ENST00000254488	D	0.82167	-1.58	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95915	0.8926	10	0.87932	D	0	.	13.2142	0.59849	0.3593:0.6407:0.0:0.0	.	436	P48066	S6A11_HUMAN	W	436	ENSP00000254488:R436W	ENSP00000254488:R436W	R	+	1	2	SLC6A11	10945960	0.203000	0.23435	1.000000	0.80357	0.995000	0.86356	0.322000	0.19576	2.376000	0.81061	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	1	0	1	211	827	0	214	0	0	0	1	0	214	2		0	0	0	0	0	2	1	1	205	758	0	197	2								-2.523205	1	1	121412	1	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A11	6538	broad.mit.edu	37	3	10974869	10974869	+	Silent	SNP	C	C	A	rs139042454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10974869C>A	ENST00000254488.2	+	11	1470	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11			35				Clobazam(DB00349)	TCTTTGACTCCTATGCCGCCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000254488.2	1	1	hg19	CCDS2602.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	1	0	1	92	486	0	77	0	2.585304e-02	1	1	0	77	2		0	0	0	0	0	2	1	1	91	475	0	77	2								-2.882346	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A11	6538	broad.mit.edu	37	3	10976731	10976731	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10976731T>G	ENST00000254488.2	+	13	1658	c.1592T>G	c.(1591-1593)tTc>tGc	p.F531C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11			35				Clobazam(DB00349)	TTCATCTTCTTCTTGATCAAG	0.582000																								0							SO:0001583	missense			ENST00000254488.2	1	1	hg19	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927541	0.52759	.	.	ENSG00000132164	ENST00000254488	T	0.74526	-0.85	4.05	4.05	0.47172	.	0.184815	0.47093	D	0.000249	T	0.72653	0.3487	L	0.29908	0.895	0.80722	D	1	B	0.33266	0.404	P	0.49637	0.617	T	0.74127	-0.3765	10	0.66056	D	0.02	.	8.2501	0.31712	0.0:0.09:0.0:0.91	.	531	P48066	S6A11_HUMAN	C	531	ENSP00000254488:F531C	ENSP00000254488:F531C	F	+	2	0	SLC6A11	10951731	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.595000	0.36708	1.840000	0.53500	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	1	0	1	120	533	0	144	1	3.073064e-01	2	4	0	144	2		0	0	0	0	0	2	1	1	120	522	0	144	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A1	6529	broad.mit.edu	37	3	11067953	11067953	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11067953G>A	ENST00000287766.4	+	10	1407	c.986G>A	c.(985-987)tGc>tAc	p.C329Y	SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1			26		Ovarian(110;0.0392)		Clobazam(DB00349)|Tiagabine(DB00906)	ATCAATTCGTGCACCAGCATG	0.577000																								0							SO:0001583	missense			ENST00000287766.4	1	1	hg19	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381368	0.61845	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74002	-0.8;-0.8	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.81856	0.4911	M	0.84948	2.725	0.47737	D	0.999504	P	0.45348	0.856	P	0.47470	0.548	D	0.84761	0.0762	10	0.72032	D	0.01	.	15.4803	0.75521	0.0:0.138:0.862:0.0	.	329	P30531	SC6A1_HUMAN	Y	329;151	ENSP00000287766:C329Y;ENSP00000445171:C151Y	ENSP00000287766:C329Y	C	+	2	0	SLC6A1	11042953	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	2.582000	0.46085	2.813000	0.96785	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	1	0	1	136	568	0	139	0	4.065289e-01	0	7	0	139	2		0	0	0	0	0	2	1	1	130	551	0	139	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB2	90102	broad.mit.edu	37	3	111603011	111603011	+	Silent	SNP	C	C	T	rs147548065	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603011C>T	ENST00000431670.2	+	2	498	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PHLDB2_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000393925.3_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000412622.1_Silent_p.N29N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2			55					CTGTTGAGAACGATTCCCAAA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000431670.2	1	1	hg19	CCDS46886.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	1	0	0	129	705	0	179	0	9.146015e-01	0	25	0	179	2		0	0	0	0	0	2	1	1	127	697	0	177	2								-20.000000	1	0	121412	8	45	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB2	90102	broad.mit.edu	37	3	111603040	111603040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603040G>A	ENST00000431670.2	+	2	527	c.116G>A	c.(115-117)aGc>aAc	p.S39N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2			55					GAGAGCCTCAGCCCAAAGAAA	0.433000																								0							SO:0001583	missense			ENST00000431670.2	1	1	hg19	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	5.779	0.328165	0.10956	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.30182	1.54;1.54;1.56;1.56;1.54;1.56	5.87	4.06	0.47325	.	0.327773	0.38058	N	0.001831	T	0.14399	0.0348	N	0.11560	0.145	0.24589	N	0.99384	B;B;B;B;B	0.10296	0.0;0.003;0.001;0.0;0.0	B;B;B;B;B	0.11329	0.0;0.006;0.004;0.001;0.001	T	0.20773	-1.0265	10	0.16420	T	0.52	.	8.4181	0.32683	0.2311:0.0:0.7689:0.0	.	39;39;39;39;66	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	66;66;39;39;39;39;39;39;39	ENSP00000377500:S66N;ENSP00000405405:S39N;ENSP00000405292:S39N;ENSP00000418296:S39N;ENSP00000377502:S39N;ENSP00000418319:S39N	ENSP00000352764:S66N	S	+	2	0	PHLDB2	113085730	0.998000	0.40836	0.999000	0.59377	0.724000	0.41520	1.185000	0.32065	1.631000	0.50456	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	0	0	1	127	663	0	154	0	9.577909e-01	1	28	0	154	2		0	0	0	0	0	2	1	1	124	653	0	154	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB2	90102	broad.mit.edu	37	3	111603154	111603154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603154C>T	ENST00000431670.2	+	2	641	c.230C>T	c.(229-231)aCc>aTc	p.T77I	PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2			55					CCTTTGGGAACCAGTGTCAGA	0.458000																								0							SO:0001583	missense			ENST00000431670.2	1	1	hg19	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261057	0.23051	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34275	1.37;1.42;1.39;1.39;1.42;1.39	5.87	4.08	0.47627	.	0.919733	0.09484	N	0.795949	T	0.34366	0.0895	N	0.22421	0.69	0.09310	N	1	B;B;P;B;P	0.49090	0.09;0.053;0.919;0.145;0.493	B;B;P;B;B	0.48704	0.069;0.032;0.587;0.146;0.146	T	0.17228	-1.0376	10	0.72032	D	0.01	.	9.8179	0.40865	0.0:0.7857:0.1395:0.0748	.	77;77;77;77;104	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	104;104;77;77;77;77;77;77;77	ENSP00000377500:T104I;ENSP00000405405:T77I;ENSP00000405292:T77I;ENSP00000418296:T77I;ENSP00000377502:T77I;ENSP00000418319:T77I	ENSP00000352764:T104I	T	+	2	0	PHLDB2	113085844	0.030000	0.19436	0.378000	0.26068	0.462000	0.32619	1.447000	0.35101	0.932000	0.37266	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	0	0	1	174	890	1	229	0	9.912506e-01	0	39	1	229	2		0	0	0	0	0	2	1	1	171	870	1	228	17								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB2	90102	broad.mit.edu	37	3	111603559	111603559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603559G>A	ENST00000431670.2	+	2	1046	c.635G>A	c.(634-636)aGc>aAc	p.S212N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2			55					AGGAAAATGAGCATTCAGGAC	0.512000																								0							SO:0001583	missense			ENST00000431670.2	1	1	hg19	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.721857	0.03182	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31510	1.52;1.53;1.53;1.49;1.53;1.53	5.61	-1.59	0.08453	.	0.612468	0.19263	N	0.118609	T	0.04770	0.0129	N	0.00436	-1.5	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.001	T	0.34104	-0.9842	10	0.06099	T	0.92	.	1.8583	0.03184	0.2687:0.158:0.417:0.1562	.	212;212;212;212;239	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	239;239;212;212;212;212;212;212;212	ENSP00000377500:S239N;ENSP00000405405:S212N;ENSP00000405292:S212N;ENSP00000418296:S212N;ENSP00000377502:S212N;ENSP00000418319:S212N	ENSP00000352764:S239N	S	+	2	0	PHLDB2	113086249	0.853000	0.29707	0.375000	0.26029	0.952000	0.60782	1.298000	0.33412	-0.076000	0.12775	-0.345000	0.07892	AGC		TCGA-IB-7651-01A-11D-2154-08	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	1	0	1	81	284	0	77	0	9.958155e-01	1	31	0	77	2		0	0	0	0	0	2	1	1	79	276	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB2	90102	broad.mit.edu	37	3	111639200	111639200	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111639200G>A	ENST00000431670.2	+	5	2346	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	PHLDB2_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000495180.1_Silent_p.E231E|PHLDB2_ENST00000393925.3_Silent_p.E645E|PHLDB2_ENST00000412622.1_Silent_p.E645E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2			55					AGGAGAAGGAGATTTTGGATC	0.353000																								0							SO:0001819	synonymous_variant			ENST00000431670.2	1	1	hg19	CCDS46886.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	1	0	1	62	338	0	52	1	9.972837e-01	2	49	0	52	2		0	0	0	0	0	2	1	1	62	331	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB2	90102	broad.mit.edu	37	3	111658364	111658364	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658364C>A	ENST00000431670.2	+	7	2584	c.2173C>A	c.(2173-2175)Ctg>Atg	p.L725M	PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.L311M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2			55					CTTTGAAGACCTGGAGTTCCA	0.428000																								0							SO:0001583	missense			ENST00000431670.2	1	1	hg19	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613049	0.66672	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.60672	0.54;0.17;0.55;0.64;0.17;0.55;1.44	5.53	1.7	0.24286	.	0.000000	0.64402	D	0.000007	T	0.67720	0.2923	M	0.64567	1.98	0.43430	D	0.995596	D;D;D;D	0.76494	0.989;0.998;0.999;0.984	P;D;D;D	0.68039	0.78;0.95;0.955;0.926	T	0.65705	-0.6103	10	0.62326	D	0.03	.	9.5472	0.39288	0.0:0.7006:0.0:0.2994	.	311;725;682;709	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	M	709;709;725;682;682;725;682;311	ENSP00000377500:L709M;ENSP00000405405:L725M;ENSP00000405292:L682M;ENSP00000418296:L682M;ENSP00000377502:L725M;ENSP00000418319:L682M;ENSP00000420303:L311M	ENSP00000352764:L709M	L	+	1	2	PHLDB2	113141054	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.150000	0.31639	0.090000	0.17273	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	1	0	1	85	377	0	92	1	9.837194e-01	3	28	0	92	2		0	0	0	0	0	2	1	1	84	370	0	91	2								-2.790454	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHLDB2	90102	broad.mit.edu	37	3	111693325	111693325	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111693325T>C	ENST00000431670.2	+	18	4088	c.3677T>C	c.(3676-3678)aTg>aCg	p.M1226T	PHLDB2_ENST00000495180.1_Missense_Mutation_p.M717T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2			55					ATCTATTATATGGTAGCCCCA	0.398000																								0							SO:0001583	missense			ENST00000431670.2	0	1	hg19	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534413	0.45073	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	6.17	6.17	0.99709	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.036996	0.85682	D	0.000000	D	0.86900	0.6044	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.971;0.996;1.0;0.997	D;D;D;D;D	0.85130	0.985;0.926;0.965;0.997;0.991	D	0.88373	0.2996	10	0.87932	D	0	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	338;717;1226;1183;1210	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	T	1210;1226;1183;1226;1183;717	ENSP00000377500:M1210T;ENSP00000405405:M1226T;ENSP00000405292:M1183T;ENSP00000377502:M1226T;ENSP00000418319:M1183T;ENSP00000420303:M717T	ENSP00000377500:M1210T	M	+	2	0	PHLDB2	113176015	1.000000	0.71417	0.990000	0.47175	0.016000	0.09150	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	0	0	0	10	467	0	90	0	2.598971e-01	0	43	0	90	2		0	0	0	0	0	2	1	9.964075e-01	10	452	0	90	2								-9.008213	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.260000	0.130000	1.000000	0.250000	0.309846	0.260000	0	1.800000e-01	3.700000e-01
TMPRSS7	344805	broad.mit.edu	37	3	111782371	111782371	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111782371G>T	ENST00000452346.2	+	12	1450		c.e12-1		TMPRSS7_ENST00000419127.1_Splice_Site			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7			34					GTTGCCCATAGCCTGCCCTGT	0.413000																								0							SO:0001630	splice_region_variant			ENST00000452346.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.11	3.030445	0.54790	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6344	0.85042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMPRSS7	113265061	1.000000	0.71417	0.995000	0.50966	0.611000	0.37282	6.145000	0.71769	2.670000	0.90874	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	1	0	1	160	679	0	188		0	0	0	0	188	2		0	0	0	0	0	2	1	1	158	663	0	188	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35A5	55032	broad.mit.edu	37	3	112299496	112299496	+	Missense_Mutation	SNP	C	C	T	rs144280370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112299496C>T	ENST00000492406.1	+	6	815	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	p.R178S(1)		11					CTTGGCAGGACGTGGATTTCA	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000492406.1	1	1	hg19	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289704	0.59976	0.0	1.16E-4	ENSG00000138459	ENST00000492406	T	0.47177	0.85	5.76	5.76	0.90799	.	0.314260	0.39475	N	0.001341	T	0.33089	0.0851	N	0.08118	0	0.38054	D	0.935873	P	0.47762	0.9	B	0.43575	0.424	T	0.22034	-1.0228	9	.	.	.	-12.1866	18.1556	0.89689	0.0:1.0:0.0:0.0	.	178	Q9BS91	S35A5_HUMAN	C	178	ENSP00000417654:R178C	.	R	+	1	0	SLC35A5	113782186	0.997000	0.39634	1.000000	0.80357	0.539000	0.34962	3.555000	0.53727	2.724000	0.93272	0.585000	0.79938	CGT		TCGA-IB-7651-01A-11D-2154-08	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	1	0	1	68	352	0	80	1	1	49	130	0	80	2		0	0	0	0	0	2	1	1	66	344	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC80	151887	broad.mit.edu	37	3	112358493	112358493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112358493C>T	ENST00000206423.3	-	2	1213	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80			51					CTCTGTTGGGCGAGCTAGTCT	0.602000																								0							SO:0001583	missense			ENST00000206423.3	1	1	hg19	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755273	0.15846	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.44881	0.91;0.91	5.35	-5.15	0.02866	.	1.257190	0.05262	N	0.515973	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12016	-1.0564	10	0.15499	T	0.54	-0.0491	1.9051	0.03275	0.1164:0.2021:0.2475:0.434	.	98;87;87	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	87	ENSP00000206423:R87H;ENSP00000411814:R87H	ENSP00000206423:R87H	R	-	2	0	CCDC80	113841183	0.000000	0.05858	0.000000	0.03702	0.603000	0.37013	-1.306000	0.02735	-1.383000	0.02106	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	1	0	0	58	568	0	103	0	1	0	262	0	103	2		0	0	0	0	0	2	1	1	58	553	0	100	2								-16.559010	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.840000	1.000000	1.000000	0.984415	0.990000	1	9.600000e-01	1
C3orf17	25871	broad.mit.edu	37	3	112729539	112729539	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112729539T>G	ENST00000314400.5	-	7	1117	c.926A>C	c.(925-927)gAa>gCa	p.E309A	C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A|C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17			13					CACATCAAATTCTGATGACTC	0.363000																								0							SO:0001583	missense			ENST00000314400.5	1	1	hg19	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	8.710	0.911758	0.17907	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000393857	T;T;T	0.18174	2.49;2.49;2.23	5.87	0.443	0.16587	.	0.932998	0.09236	N	0.829848	T	0.12433	0.0302	L	0.60455	1.87	0.23657	N	0.997183	B;B;B;B	0.33171	0.004;0.017;0.228;0.4	B;B;B;B	0.30855	0.007;0.012;0.121;0.121	T	0.31971	-0.9924	10	0.16896	T	0.51	-9.1912	0.7962	0.01067	0.1596:0.2222:0.164:0.4543	.	198;106;239;309	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	A	309;239;173	ENSP00000320251:E309A;ENSP00000373173:E239A;ENSP00000377438:E173A	ENSP00000320251:E309A	E	-	2	0	C3orf17	114212229	0.998000	0.40836	0.997000	0.53966	0.915000	0.54546	0.216000	0.17585	0.463000	0.27118	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	1	0	1	41	185	0	47	1	9.999989e-01	22	77	0	47	2		0	0	0	0	0	2	1	1	39	182	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf17	25871	broad.mit.edu	37	3	112736342	112736342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736342T>G	ENST00000314400.5	-	2	405	c.214A>C	c.(214-216)Aat>Cat	p.N72H	C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|C3orf17_ENST00000393857.2_Intron	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17			13					CTGTTGTGATTGCTGTAAAGG	0.468000																								0							SO:0001583	missense			ENST00000314400.5	1	1	hg19	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585739	0.28268	.	.	ENSG00000163608	ENST00000314400;ENST00000383675	T;T	0.47177	0.85;0.85	5.61	3.1	0.35709	.	0.359775	0.32287	N	0.006308	T	0.36193	0.0958	L	0.54323	1.7	0.80722	D	1	P;B	0.35174	0.488;0.197	B;B	0.35240	0.198;0.058	T	0.07347	-1.0777	10	0.15066	T	0.55	-15.9227	6.1807	0.20470	0.1489:0.0:0.353:0.4982	.	72;72	Q6NW34-2;Q6NW34	.;CC017_HUMAN	H	72	ENSP00000320251:N72H;ENSP00000373173:N72H	ENSP00000320251:N72H	N	-	1	0	C3orf17	114219032	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.705000	0.37867	0.946000	0.37632	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	1	0	1	84	326	0	65	1	9.998009e-01	11	40	0	65	2		0	0	0	0	0	2	1	1	82	325	0	65	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf17	25871	broad.mit.edu	37	3	112736400	112736400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736400C>T	ENST00000314400.5	-	2	347	c.156G>A	c.(154-156)tcG>tcA	p.S52S	C3orf17_ENST00000383675.2_Silent_p.S52S|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|C3orf17_ENST00000393857.2_Intron	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17			13					GGCTCTTCAGCGACAGTATGA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000314400.5	1	1	hg19	CCDS33824.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	1	0	1	108	550	0	105	0	9.783774e-01	1	32	0	105	2		0	0	0	0	0	2	1	1	106	535	0	101	2								-20.000000	1	0	121412	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BOC	91653	broad.mit.edu	37	3	112993336	112993336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112993336G>A	ENST00000495514.1	+	9	2053	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000355385.3_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated			68			Epithelial(53;0.227)		GCGCTCCCCAGACCCCCAACG	0.667000																								0							SO:0001583	missense			ENST00000495514.1	1	1	hg19	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	2.811	-0.246972	0.05867	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57752	0.38;0.38;0.38	5.08	1.1	0.20463	.	0.391327	0.25747	N	0.028573	T	0.25938	0.0632	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	8.127	0.31005	0.519:0.0:0.481:0.0	.	450;450	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	450	ENSP00000418663:R450K;ENSP00000273395:R450K;ENSP00000347546:R450K	ENSP00000273395:R450K	R	+	2	0	BOC	114476026	0.914000	0.31030	0.000000	0.03702	0.014000	0.08584	0.500000	0.22562	0.132000	0.18615	0.563000	0.77884	AGA		TCGA-IB-7651-01A-11D-2154-08	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	1	0	1	59	289	0	64	0	9.999151e-01	0	70	0	64	2		0	0	0	0	0	2	1	1	58	281	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BOC	91653	broad.mit.edu	37	3	112998114	112998114	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112998114G>T	ENST00000495514.1	+	12	2536	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000355385.3_Missense_Mutation_p.R611M|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated			68			Epithelial(53;0.227)		GCTCCCGACAGGCCCACCATC	0.587000																								0							SO:0001583	missense			ENST00000495514.1	1	1	hg19	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402861	0.83230	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57907	0.37;0.37;0.37	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.116716	0.64402	D	0.000017	T	0.74764	0.3759	M	0.78285	2.405	0.48236	D	0.999612	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.75473	-0.3305	10	0.51188	T	0.08	.	19.4878	0.95037	0.0:0.0:1.0:0.0	.	612;611	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	M	611;612;611	ENSP00000418663:R611M;ENSP00000273395:R612M;ENSP00000347546:R611M	ENSP00000273395:R612M	R	+	2	0	BOC	114480804	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.240000	0.78192	2.596000	0.87737	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	1	0	1	40	243	0	63	0	9.994814e-01	0	72	0	63	2		0	0	0	0	0	2	1	1	38	237	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
WDR52	0	broad.mit.edu	37	3	113115561	113115561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113115561C>T	ENST00000295868.2	-	14	1745	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	WDR52_ENST00000393845.2_Missense_Mutation_p.G528E|WDR52_ENST00000475568.1_5'UTR	NM_018338.3	NP_060808.2						49					AATTTGTGCTCCAGTGAAGTT	0.338000																								0							SO:0001583	missense			ENST00000295868.2	1	1	hg19	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582463	0.65992	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.71934	-0.61;0.38	5.49	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.81809	0.4901	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	D	0.84547	0.0642	9	0.87932	D	0	.	16.5094	0.84280	0.0:0.8692:0.1308:0.0	.	528	Q96MT7	WDR52_HUMAN	E	528	ENSP00000377428:G528E;ENSP00000295868:G528E	ENSP00000295868:G528E	G	-	2	0	WDR52	114598251	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	3.648000	0.54410	1.434000	0.47414	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3	1	0	1	38	172	0	40	0	3.454690e-02	0	2	0	40	2		0	0	0	0	0	2	1	1	36	171	0	40	2								-3.355917	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR52	0	broad.mit.edu	37	3	113120491	113120491	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113120491A>G	ENST00000295868.2	-	10	1428	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	WDR52_ENST00000393845.2_Silent_p.N422N|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2						49					AGAGATTCACATTCTTGTCTA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000295868.2	1	1	hg19	CCDS2972.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3	1	0	1	40	175	0	44	0	9.490933e-02	0	3	0	44	2		0	0	0	0	0	2	1	1	39	171	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA2018	205717	broad.mit.edu	37	3	113374605	113374605	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113374605G>A	ENST00000478658.1	-	5	5941	c.5924C>T	c.(5923-5925)cCc>cTc	p.P1975L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1975L			Q68DE3	K2018_HUMAN	KIAA2018			80					TGATCTCTGGGGAACTGAAGA	0.493000																								0							SO:0001583	missense			ENST00000478658.1	1	1	hg19	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	g	12.16	1.855688	0.32791	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.12984	2.63;2.63	5.86	4.97	0.65823	.	0.406622	0.27270	N	0.020135	T	0.09423	0.0232	N	0.08118	0	0.37637	D	0.921903	B	0.20887	0.049	B	0.16722	0.016	T	0.12889	-1.0530	10	0.66056	D	0.02	-0.8651	16.9128	0.86144	0.0:0.1281:0.8719:0.0	.	1975	Q68DE3	K2018_HUMAN	L	1975	ENSP00000320794:P1975L;ENSP00000420721:P1975L	ENSP00000320794:P1975L	P	-	2	0	KIAA2018	114857295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.066000	0.57520	1.443000	0.47586	0.558000	0.71614	CCC		TCGA-IB-7651-01A-11D-2154-08	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	1	0	1	8	128	0	39	1	5.980156e-01	8	24	0	39	2		0	0	0	0	0	2	1	9.891033e-01	8	125	0	38	2								-4.716119	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.730000	0.340000	1.000000	1.000000	0.738359	0.730000	0	5.100000e-01	1
KIAA2018	205717	broad.mit.edu	37	3	113375352	113375352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113375352G>T	ENST00000478658.1	-	5	5194	c.5177C>A	c.(5176-5178)gCc>gAc	p.A1726D	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.A1726D			Q68DE3	K2018_HUMAN	KIAA2018			80					GATATCTGAGGCCACAGTATG	0.408000																								0							SO:0001583	missense			ENST00000478658.1	1	1	hg19	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	9.415	1.081650	0.20309	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.6	4.73	0.59995	.	0.444083	0.24134	N	0.041223	T	0.09598	0.0236	N	0.19112	0.55	0.19300	N	0.999979	B	0.27559	0.181	B	0.24155	0.051	T	0.21518	-1.0243	10	0.36615	T	0.2	-0.136	5.2305	0.15420	0.0798:0.1796:0.6145:0.1261	.	1726	Q68DE3	K2018_HUMAN	D	1726	ENSP00000320794:A1726D;ENSP00000420721:A1726D	ENSP00000320794:A1726D	A	-	2	0	KIAA2018	114858042	0.919000	0.31177	0.917000	0.36280	0.950000	0.60333	3.053000	0.49901	1.368000	0.46115	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	1	0	1	119	525	0	114	1	9.504671e-01	7	17	0	114	2		0	0	0	0	0	2	1	1	118	514	0	114	2								-3.402419	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATG7	10533	broad.mit.edu	37	3	11340278	11340278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340278G>A	ENST00000354449.3	+	2	134	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ATG7_ENST00000446450.2_Missense_Mutation_p.E37K|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7			34					GAAGCTGAACGAGTATCGGCT	0.453000																								0							SO:0001583	missense			ENST00000354449.3	1	1	hg19	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161692	0.78226	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	6.17	6.17	0.99709	.	0.055781	0.64402	D	0.000001	T	0.29491	0.0735	L	0.33485	1.01	0.80722	D	1	P;B;B	0.46952	0.887;0.373;0.162	B;B;B	0.34242	0.178;0.073;0.033	T	0.16247	-1.0409	10	0.07325	T	0.83	-30.8945	20.4745	0.99168	0.0:0.0:1.0:0.0	.	37;37;37	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	K	37	ENSP00000415223:E37K;ENSP00000390547:E37K;ENSP00000411880:E37K;ENSP00000389996:E37K;ENSP00000412580:E37K;ENSP00000347042:E37K;ENSP00000346437:E37K;ENSP00000408303:E37K;ENSP00000416644:E37K	ENSP00000346437:E37K	E	+	1	0	ATG7	11315278	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.382000	0.79729	2.941000	0.99782	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	1	0	1	130	680	0	194	1	9.999984e-01	23	75	0	194	2		0	0	0	0	0	2	1	1	125	668	0	193	2								-2.967565	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7			34					AGGACATTAAGGGTTATTACT	0.428000																								0							SO:0001583	missense			ENST00000354449.3	1	1	hg19	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492548	0.44352	.	.	ENSG00000197548	ENST00000451513;ENST00000435760;ENST00000451830;ENST00000444619;ENST00000446450;ENST00000354956;ENST00000354449;ENST00000419112;ENST00000423116	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	L	0.52905	1.665	0.52099	D	0.999946	B;B;B	0.33266	0.215;0.404;0.282	B;B;B	0.32677	0.07;0.15;0.072	T	0.10730	-1.0617	10	0.13853	T	0.58	-24.377	14.969	0.71217	0.0693:0.0:0.9307:0.0	.	48;48;48	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	N	48	ENSP00000415223:K48N;ENSP00000390547:K48N;ENSP00000411880:K48N;ENSP00000389996:K48N;ENSP00000412580:K48N;ENSP00000347042:K48N;ENSP00000346437:K48N;ENSP00000408303:K48N;ENSP00000416644:K48N	ENSP00000346437:K48N	K	+	3	2	ATG7	11315313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.722000	0.47269	2.941000	0.99782	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	1	0	1	104	647	0	164	1	9.996573e-01	13	59	0	164	2		0	0	0	0	0	2	1	1	101	636	0	164	2								-2.879464	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRAMD1C	54762	broad.mit.edu	37	3	113563463	113563463	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113563463T>A	ENST00000358160.4	+	2	633	c.141T>A	c.(139-141)aaT>aaA	p.N47K	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C			26					AGGGGCCAAATTTACATAATT	0.368000																								0							SO:0001583	missense			ENST00000358160.4	1	1	hg19	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246325	0.22796	.	.	ENSG00000178075	ENST00000358160	T	0.29397	1.57	5.58	3.25	0.37280	.	0.928783	0.08833	N	0.887002	T	0.16727	0.0402	N	0.24115	0.695	0.20489	N	0.999892	B	0.15141	0.012	B	0.16289	0.015	T	0.34354	-0.9832	10	0.02654	T	1	.	6.0	0.19515	0.0:0.2034:0.0:0.7966	.	47	Q8IYS0	GRM1C_HUMAN	K	47	ENSP00000350881:N47K	ENSP00000350881:N47K	N	+	3	2	GRAMD1C	115046153	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.635000	0.24629	0.970000	0.38263	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	0	0	0	15	584	0	111	0	4.060012e-02	1	11	0	111	2		0	0	0	0	0	2	1	9.998645e-01	15	579	0	110	2								-12.637470	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.300000	0.170000	1.000000	0.290000	0.350914	0.300000	0	2.300000e-01	4.100000e-01
GRAMD1C	54762	broad.mit.edu	37	3	113623099	113623099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113623099G>A	ENST00000358160.4	+	8	1261	c.769G>A	c.(769-771)Gat>Aat	p.D257N	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C			26					AGAGTCATTCGATGGAAATTC	0.348000																								0							SO:0001583	missense			ENST00000358160.4	1	1	hg19	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362379	0.24684	0.0	1.16E-4	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.45668	1.47;0.89;0.94	5.72	3.74	0.42951	.	1.651810	0.04538	N	0.387595	T	0.30386	0.0763	N	0.20807	0.61	0.20074	N	0.999931	B;B	0.16396	0.017;0.006	B;B	0.11329	0.006;0.001	T	0.21724	-1.0237	10	0.35671	T	0.21	.	6.3123	0.21171	0.24:0.0:0.76:0.0	.	90;257	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	N	257;90;52;52	ENSP00000350881:D257N;ENSP00000419132:D90N;ENSP00000408135:D52N	ENSP00000350881:D257N	D	+	1	0	GRAMD1C	115105789	0.935000	0.31712	0.013000	0.15412	0.698000	0.40448	1.780000	0.38634	0.693000	0.31634	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	1	0	1	56	285	0	64	1	8.386104e-01	4	15	0	64	2		0	0	0	0	0	2	1	1	54	278	0	64	2								-3.165562	1	1	121412	2	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1407	57577	broad.mit.edu	37	3	113697720	113697720	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113697720G>A	ENST00000295878.3	-	15	2591	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407			40					GCCAGCTCTGGATGACTCTCT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000295878.3	1	1	hg19	CCDS2977.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	1	0	0	168	694	0	180	1	9.219109e-01	7	13	0	180	2		0	0	0	0	0	2	1	1	165	676	0	179	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1407	57577	broad.mit.edu	37	3	113720481	113720481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113720481C>A	ENST00000295878.3	-	13	2270	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407			40					TTCTTTCAAGCTGTGCCTCCT	0.443000																								0							SO:0001583	missense			ENST00000295878.3	1	1	hg19	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125908	0.56721	.	.	ENSG00000163617	ENST00000295878	T	0.35048	1.33	5.19	-1.44	0.08856	.	0.303015	0.36200	N	0.002729	T	0.47893	0.1470	M	0.72118	2.19	0.50813	D	0.999891	D	0.69078	0.997	P	0.60473	0.875	T	0.45220	-0.9276	10	0.42905	T	0.14	.	9.9535	0.41653	0.0:0.3164:0.0:0.6836	.	708	Q8NCU4	K1407_HUMAN	H	708	ENSP00000295878:Q708H	ENSP00000295878:Q708H	Q	-	3	2	KIAA1407	115203171	0.796000	0.28864	0.651000	0.29564	0.985000	0.73830	-0.007000	0.12810	-0.159000	0.11021	-0.355000	0.07637	CAG		TCGA-IB-7651-01A-11D-2154-08	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	1	0	1	64	792	0	159	1	6.129190e-01	7	20	0	159	2		0	0	0	0	0	2	1	1	63	762	0	157	2								-13.636690	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.890000	0.690000	1.000000	1.000000	0.888742	0.890000	1	7.800000e-01	1
DRD3	1814	broad.mit.edu	37	3	113858410	113858410	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113858410C>A	ENST00000460779.1	-	6	949	c.660G>T	c.(658-660)cgG>cgT	p.R220R	DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000383673.2_Silent_p.R220R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3			36				Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000460779.1	1	1	hg19	CCDS2978.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	1	0	1	162	674	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	1	159	662	0	158	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF80	7634	broad.mit.edu	37	3	113955909	113955909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113955909G>A	ENST00000482457.2	-	1	516	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	p.R5>?(1)		32		Lung NSC(201;0.0233)|all_neural(597;0.0837)			AACCCATCGCGTTTAGGGCTC	0.542000													GBM(23;986 1114 21716)											1	Complex(1)						SO:0001583	missense			ENST00000482457.2	1	1	hg19	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134667	0.09032	.	.	ENSG00000174255	ENST00000482457	T	0.22743	1.94	2.44	-1.91	0.07641	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40098	-0.9581	9	0.02654	T	1	.	8.0728	0.30699	0.7061:0.0:0.2939:0.0	.	5	P51504	ZNF80_HUMAN	C	5	ENSP00000417192:R5C	ENSP00000309812:R5C	R	-	1	0	ZNF80	115438599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.760000	0.00786	-0.552000	0.06167	-0.355000	0.07637	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	1	0	1	102	389	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	1	98	386	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIGIT	201633	broad.mit.edu	37	3	114018494	114018494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114018494G>A	ENST00000486257.1	+	4	699	c.442G>A	c.(442-444)Gcg>Acg	p.A148T	TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T|TIGIT_ENST00000481065.1_Missense_Mutation_p.A215T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains			17					AGCCATGGCCGCGACGCTGGT	0.582000																								0							SO:0001583	missense			ENST00000486257.1	1	1	hg19	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.340308	0.01277	0.0	1.16E-4	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.56611	0.51;0.45;0.49;0.49;0.51	4.09	-8.19	0.01049	.	1.743640	0.02883	N	0.133134	T	0.29190	0.0726	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.29882	-0.9997	10	0.07813	T	0.8	4.6473	8.6741	0.34167	0.1485:0.0:0.5321:0.3194	.	148	Q495A1	TIGIT_HUMAN	T	127;215;148;148;127	ENSP00000418917:A127T;ENSP00000420552:A215T;ENSP00000419085:A148T;ENSP00000373167:A148T;ENSP00000419706:A127T	ENSP00000373167:A148T	A	+	1	0	TIGIT	115501184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.907000	0.00700	-2.557000	0.00476	-1.140000	0.01884	GCG		TCGA-IB-7651-01A-11D-2154-08	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	1	0	1	39	216	0	61	0	9.568110e-01	1	30	0	61	2		0	0	0	0	0	2	1	1	38	212	0	61	2								-3.332352	1	1	121412	3	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
ZBTB20	26137	broad.mit.edu	37	3	114058034	114058034	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114058034C>T	ENST00000474710.1	-	5	2222	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20			48					CTGTGCAGGGCCACGTGTCGC	0.647000													NSCLC(69;748 1344 9802 11203 30933)											0							SO:0001583	missense			ENST00000474710.1	1	1	hg19	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409447	0.83340	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.60068	0.868	T	0.55444	-0.8140	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	682	Q9HC78	ZBT20_HUMAN	T	609;609;609;609;682;609;609	ENSP00000420324:A609T;ENSP00000377375:A609T;ENSP00000418092:A609T;ENSP00000419902:A609T;ENSP00000419153:A682T;ENSP00000349803:A609T;ENSP00000417307:A609T	ENSP00000349803:A609T	A	-	1	0	ZBTB20	115540724	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.842000	0.69417	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1	85	414	0	81	0	2.756278e-01	0	6	0	81	2		0	0	0	0	0	2	1	1	83	406	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB20	26137	broad.mit.edu	37	3	114069698	114069698	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069698G>A	ENST00000474710.1	-	4	1405	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.P336P|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000357258.3_Silent_p.P336P|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.P336P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20			48					CAGCCTGCTCGGGTTGGGTGG	0.637000													NSCLC(69;748 1344 9802 11203 30933)											0							SO:0001819	synonymous_variant			ENST00000474710.1	1	1	hg19	CCDS54626.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1	89	416	0	63	0	2.897973e-01	0	6	0	63	2		0	0	0	0	0	2	1	1	87	409	0	63	2								-2.408055	0	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB20	26137	broad.mit.edu	37	3	114069836	114069836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069836G>A	ENST00000474710.1	-	4	1267	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.A290A|ZBTB20_ENST00000481632.1_Silent_p.A290A|ZBTB20_ENST00000357258.3_Silent_p.A290A|ZBTB20_ENST00000464560.1_Silent_p.A290A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.A290A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20			48					CGGTGCCCTCGGCCTGGTCTG	0.602000													NSCLC(69;748 1344 9802 11203 30933)											0							SO:0001819	synonymous_variant			ENST00000474710.1	1	1	hg19	CCDS54626.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1	82	282	0	46	0	4.097675e-01	1	5	0	46	2		0	0	0	0	0	2	1	1	82	273	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB20	26137	broad.mit.edu	37	3	114070337	114070337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070337G>A	ENST00000474710.1	-	4	766	c.588C>T	c.(586-588)aaC>aaT	p.N196N	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.N123N|ZBTB20_ENST00000481632.1_Silent_p.N123N|ZBTB20_ENST00000357258.3_Silent_p.N123N|ZBTB20_ENST00000464560.1_Silent_p.N123N|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.N123N	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20			48					CATCGCCCACGTTCTGTGACA	0.647000													NSCLC(69;748 1344 9802 11203 30933)											0							SO:0001819	synonymous_variant			ENST00000474710.1	1	1	hg19	CCDS54626.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1	56	331	0	62	0	2.741492e-01	0	7	0	62	2		0	0	0	0	0	2	1	1	56	329	0	62	2								-20.000000	1	1	121410	1	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZBTB20	26137	broad.mit.edu	37	3	114070553	114070553	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070553G>A	ENST00000474710.1	-	4	550	c.372C>T	c.(370-372)gcC>gcT	p.A124A	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.A51A|ZBTB20_ENST00000481632.1_Silent_p.A51A|ZBTB20_ENST00000357258.3_Silent_p.A51A|ZBTB20_ENST00000464560.1_Silent_p.A51A|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.A51A	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20			48					AGGGGCTGCCGGCTGCCAGCA	0.607000													NSCLC(69;748 1344 9802 11203 30933)											0							SO:0001819	synonymous_variant			ENST00000474710.1	1	1	hg19	CCDS54626.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1	45	223	0	47	0	1.383792e-01	1	3	0	47	2		0	0	0	0	0	2	1	1	38	248	0	51	2								-20.000000	1	0	121406	3	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB20	26137	broad.mit.edu	37	3	114070695	114070695	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070695C>T	ENST00000474710.1	-	4	408	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	p.R4H(1)		48					GCTGTGAATGCGCTCGGTCAT	0.537000													NSCLC(69;748 1344 9802 11203 30933)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000474710.1	0	1	hg19	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893482	0.91889	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.46819	2.67;2.67;2.67;2.67;2.78;2.67;2.67;0.86	6.1	6.1	0.99115	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.65249	-0.6214	10	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	77	Q9HC78	ZBT20_HUMAN	H	4;4;4;4;77;4;4;4	ENSP00000420324:R4H;ENSP00000377375:R4H;ENSP00000418092:R4H;ENSP00000419902:R4H;ENSP00000419153:R77H;ENSP00000349803:R4H;ENSP00000417307:R4H;ENSP00000420684:R4H	ENSP00000349803:R4H	R	-	2	0	ZBTB20	115553385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.902000	0.99343	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	1	0	1	38	315	1	58	0	1.227457e-02	0	2	1	58	2		0	0	0	0	0	2	1	9.965133e-01	38	309	1	58	19								-3.318794	1	1	121192	1	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.920000	1.000000	1.000000	0.995821	0.990000	1	9.900000e-01	1
GAP43	2596	broad.mit.edu	37	3	115395064	115395064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395064G>A	ENST00000305124.6	+	2	601	c.235G>A	c.(235-237)Gag>Aag	p.E79K	GAP43_ENST00000393780.3_Missense_Mutation_p.E115K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	p.E79Q(1)		32					CGATGGGGTGGAGAAGAAGGG	0.537000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000305124.6	1	1	hg19	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602679	0.46423	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60672	0.17;0.17	4.62	4.62	0.57501	Neuromodulin (GAP-43), C-terminal (1);	0.205951	0.42548	D	0.000698	T	0.54481	0.1861	M	0.63843	1.955	0.39176	D	0.962681	B;B	0.31153	0.31;0.065	B;B	0.32465	0.146;0.033	T	0.60667	-0.7218	10	0.52906	T	0.07	-7.7158	11.4995	0.50428	0.0825:0.0:0.9175:0.0	.	115;79	A8K0Y4;P17677	.;NEUM_HUMAN	K	79;115	ENSP00000305010:E79K;ENSP00000377372:E115K	ENSP00000305010:E79K	E	+	1	0	GAP43	116877754	0.987000	0.35691	0.830000	0.32933	0.857000	0.48899	3.281000	0.51685	2.547000	0.85894	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	1	0	1	60	297	0	77	0	7.764046e-01	0	16	0	77	2		0	0	0	0	0	2	1	1	60	292	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAP43	2596	broad.mit.edu	37	3	115395285	115395285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395285G>A	ENST00000305124.6	+	2	822	c.456G>A	c.(454-456)ccG>ccA	p.P152P	GAP43_ENST00000393780.3_Silent_p.P188P	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43			32					ATAACTCGCCGTCCTCCAAGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000305124.6	1	1	hg19	CCDS33830.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	1	0	1	53	201	0	57	0	7.871614e-01	0	13	0	57	2		0	0	0	0	0	2	1	1	53	197	0	56	2								-3.686698	1	1	121400	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LSAMP	4045	broad.mit.edu	37	3	115805293	115805293	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115805293C>T	ENST00000490035.2	-	2	765	c.266G>A	c.(265-267)cGc>cAc	p.R89H	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein			31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)			CAGAGAATGGCGTTTCTCCAG	0.512000																								0							SO:0001583	missense			ENST00000490035.2	1	1	hg19	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164072	0.78339	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053914	0.64402	D	0.000001	T	0.58061	0.2096	N	0.14661	0.345	0.46954	D	0.999262	D;B	0.54207	0.965;0.425	P;P	0.49922	0.615;0.626	T	0.59705	-0.7404	10	0.39692	T	0.17	-10.0134	13.7134	0.62682	0.1536:0.8463:0.0:0.0	.	89;89	B2RCU8;Q13449	.;LSAMP_HUMAN	H	73;89;86;123	ENSP00000328455:R73H;ENSP00000419000:R89H;ENSP00000443429:R86H;ENSP00000418506:R123H	ENSP00000328455:R73H	R	-	2	0	LSAMP	117287983	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.955000	0.49121	2.668000	0.90789	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	0	0	1	50	204	0	57	0	9.999607e-01	0	65	0	57	2		0	0	0	0	0	2	1	1	48	203	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATG7	10533	broad.mit.edu	37	3	11596299	11596299	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11596299C>T	ENST00000354449.3	+	19	2119	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ATG7_ENST00000446450.2_Silent_p.S618S|ATG7_ENST00000354956.5_Silent_p.S671S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7			34					GGGACATGAGCGATGATGAGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000354449.3	0	1	hg19	CCDS2605.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	0	0	0	35	159	1	43	1	9.845603e-01	17	79	1	43	9		0	0	0	0	0	2	1	9.987712e-01	34	151	1	43	15								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ARHGAP31	57514	broad.mit.edu	37	3	119084170	119084170	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084170C>T	ENST00000264245.4	+	2	640	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					TAGTTCCATACGTTTTGAAGA	0.363000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001819	synonymous_variant			ENST00000264245.4	1	1	hg19	CCDS43135.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	1	45	220	0	59	1	9.167041e-01	3	20	0	59	2		0	0	0	0	0	2	1	1	45	216	0	59	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP31	57514	broad.mit.edu	37	3	119084190	119084190	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084190A>C	ENST00000264245.4	+	2	660	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					AGCTGTGCAGAATTTATAGAG	0.358000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001583	missense			ENST00000264245.4	1	1	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787608	0.49997	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.20200	2.09;2.09	5.65	5.65	0.86999	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.070936	0.53938	D	0.000057	T	0.33876	0.0878	L	0.52126	1.63	0.80722	D	1	P	0.37083	0.581	P	0.49502	0.613	T	0.03212	-1.1060	10	0.51188	T	0.08	.	14.8532	0.70313	1.0:0.0:0.0:0.0	.	43	Q2M1Z3	RHG31_HUMAN	A	43;43;14	ENSP00000264245:E43A;ENSP00000418429:E14A	ENSP00000264245:E43A	E	+	2	0	ARHGAP31	120566880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	1	53	235	0	64	0	9.551797e-01	0	25	0	64	2		0	0	0	0	0	2	1	1	53	229	0	64	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP31	57514	broad.mit.edu	37	3	119128481	119128481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119128481G>A	ENST00000264245.4	+	11	2316	c.1784G>A	c.(1783-1785)aGc>aAc	p.S595N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					AGCTCCTTGAGCTCTCAACAT	0.567000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001583	missense			ENST00000264245.4	0	1	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.268380	0.01433	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06687	3.27	5.27	3.44	0.39384	.	0.625587	0.15216	N	0.274181	T	0.05364	0.0142	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.40961	-0.9535	10	0.26408	T	0.33	.	6.9468	0.24522	0.0926:0.1758:0.7316:0.0	.	595	Q2M1Z3	RHG31_HUMAN	N	595	ENSP00000264245:S595N	ENSP00000264245:S595N	S	+	2	0	ARHGAP31	120611171	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.240000	0.18042	0.757000	0.33036	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	0	0	0	5	142	0	28	0	3.084946e-01	0	28	0	28	2		0	0	0	0	0	2	1	9.340263e-01	5	138	0	27	2								-7.812473	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.440000	0.160000	1.000000	0.390000	0.490576	0.440000	0	2.800000e-01	6.900000e-01
ARHGAP31	57514	broad.mit.edu	37	3	119132980	119132980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119132980G>A	ENST00000264245.4	+	12	2736	c.2204G>A	c.(2203-2205)aGc>aAc	p.S735N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					ACAGCAGCCAGCAGAGAGAAG	0.592000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001583	missense			ENST00000264245.4	1	1	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	2.576	-0.298530	0.05532	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06218	3.33	5.3	-5.78	0.02362	.	0.804525	0.11439	N	0.564024	T	0.01695	0.0054	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49113	-0.8973	10	0.11485	T	0.65	.	9.6946	0.40150	0.2901:0.0:0.5885:0.1214	.	735	Q2M1Z3	RHG31_HUMAN	N	735	ENSP00000264245:S735N	ENSP00000264245:S735N	S	+	2	0	ARHGAP31	120615670	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.413000	0.07123	-0.783000	0.04534	-0.290000	0.09829	AGC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	1	96	407	0	104	0	9.954277e-01	0	37	0	104	2		0	0	0	0	0	2	1	1	94	402	0	103	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP31	57514	broad.mit.edu	37	3	119133927	119133927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119133927G>T	ENST00000264245.4	+	12	3683	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31			67					GACACACCTGGGGCACAGCAG	0.602000													Pancreas(7;176 297 5394 51128 51241)											0							SO:0001583	missense			ENST00000264245.4	1	1	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709532	0.30322	.	.	ENSG00000031081	ENST00000264245	T	0.06608	3.28	5.39	1.34	0.21922	.	0.947823	0.08777	N	0.895302	T	0.04363	0.0120	N	0.24115	0.695	0.09310	N	1	P	0.52463	0.953	B	0.39971	0.315	T	0.39035	-0.9633	10	0.66056	D	0.02	.	3.8652	0.09013	0.1481:0.2452:0.4921:0.1147	.	1051	Q2M1Z3	RHG31_HUMAN	W	1051	ENSP00000264245:G1051W	ENSP00000264245:G1051W	G	+	1	0	ARHGAP31	120616617	0.001000	0.12720	0.000000	0.03702	0.842000	0.47809	0.926000	0.28804	0.376000	0.24707	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	1	0	1	89	807	0	163	0	9.526535e-01	1	46	0	163	2		0	0	0	0	0	2	1	1	89	782	0	159	2								-2.879461	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.950000	1.000000	1.000000	0.997531	0.990000	1	9.900000e-01	1
TMEM39A	55254	broad.mit.edu	37	3	119156786	119156786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119156786G>A	ENST00000319172.5	-	6	1160	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	p.S247L(1)		13					TTCTTTTAGCGACTCCAGCAA	0.483000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000319172.5	1	1	hg19	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967277	0.53507	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.46819	0.86	5.5	4.61	0.57282	.	0.215456	0.48767	D	0.000173	T	0.30603	0.0770	N	0.22421	0.69	0.47905	D	0.999546	P	0.51653	0.947	B	0.36808	0.233	T	0.04946	-1.0916	10	0.23302	T	0.38	-6.975	15.2941	0.73891	0.0:0.1406:0.8594:0.0	.	247	Q9NV64	TM39A_HUMAN	L	247;93	ENSP00000326063:S247L	ENSP00000326063:S247L	S	-	2	0	TMEM39A	120639476	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.825000	0.62708	1.289000	0.44618	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	1	0	1	66	251	0	60	1	1	17	97	0	60	2		0	0	0	0	0	2	1	1	64	242	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM39A	55254	broad.mit.edu	37	3	119171296	119171296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119171296C>A	ENST00000319172.5	-	4	838	c.418G>T	c.(418-420)Gag>Tag	p.E140*	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A			13					ACTGTTACCTCTGAGATGAGA	0.383000																								0							SO:0001587	stop_gained			ENST00000319172.5	0	1	hg19	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	37	6.526548	0.97637	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-9.7115	17.331	0.87264	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000326063:E140X	E	-	1	0	TMEM39A	120653986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.559000	0.86315	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	1	0	0	14	153	0	42	1	9.992504e-01	7	131	0	42	2		0	0	0	0	0	2	1	9.997782e-01	14	151	0	42	2								-3.221975	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.580000	1.000000	1.000000	0.916410	0.990000	1	7.700000e-01	1
CD80	941	broad.mit.edu	37	3	119263445	119263445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119263445C>A	ENST00000264246.3	-	3	732	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	CD80_ENST00000383668.3_Missense_Mutation_p.D124Y|CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule			12				Abatacept(DB01281)|Belatacept(DB06681)	TTGAAAGCGTCTTTTTCATAC	0.463000													Melanoma(132;135 1764 1806 5833 14593)											0							SO:0001583	missense			ENST00000264246.3	1	1	hg19	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564544	0.45694	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.13	2.34	0.29019	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616448	0.14576	N	0.311191	T	0.48519	0.1504	N	0.02751	-0.505	0.09310	N	1	D;D;D;D	0.64830	0.994;0.984;0.992;0.992	P;P;P;P	0.53146	0.719;0.565;0.707;0.707	T	0.37407	-0.9707	10	0.72032	D	0.01	-3.8667	4.979	0.14155	0.0:0.6393:0.1739:0.1869	.	124;124;124;124	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	Y	124	ENSP00000264246:D124Y;ENSP00000418364:D124Y;ENSP00000373165:D124Y;ENSP00000373164:D124Y	ENSP00000264246:D124Y	D	-	1	0	CD80	120746135	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.302000	0.19192	0.318000	0.23185	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	1	0	1	87	392	0	96	0	6.220820e-01	0	11	0	96	2		0	0	0	0	0	2	1	1	85	387	0	96	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POPDC2	64091	broad.mit.edu	37	3	119379151	119379151	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119379151G>T	ENST00000264231.3	-	1	286	c.120C>A	c.(118-120)ggC>ggA	p.G40G	POPDC2_ENST00000468801.1_Silent_p.G40G|POPDC2_ENST00000538678.1_Silent_p.G40G|POPDC2_ENST00000493094.1_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2			13					CCCCCATGAAGCCCAGGAGTA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000264231.3	1	1	hg19	CCDS2992.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	1	0	1	45	219	0	63	0	5.335943e-01	0	10	0	63	2		0	0	0	0	0	2	1	1	43	213	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COX17	10063	broad.mit.edu	37	3	119394074	119394074	+	Silent	SNP	G	G	A	rs143622776	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119394074G>A	ENST00000261070.2	-	2	206	c.114C>T	c.(112-114)atC>atT	p.I38I	COX17_ENST00000497116.1_Silent_p.I38I|COX17_ENST00000484810.1_Silent_p.I73I	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone			3					CTCCTTTCTCGATGATACTAT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000261070.2	1	1	hg19	CCDS2993.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355297.2	1	0	1	44	240	0	60	1	1	140	419	0	60	2		0	0	0	0	0	2	1	1	44	234	0	61	2								-19.991640	1	1	121410	23	45	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
NR1I2	8856	broad.mit.edu	37	3	119533866	119533866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119533866G>A	ENST00000337940.4	+	6	1000	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	NR1I2_ENST00000393716.2_Missense_Mutation_p.A279T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2			23				Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCTGAAGGGGGCCGCTTTCGA	0.612000																								0							SO:0001583	missense			ENST00000337940.4	1	1	hg19	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437170	0.62955	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95918	-3.85;-3.85;-3.85	4.31	4.31	0.51392	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.169319	0.52532	D	0.000078	D	0.96408	0.8828	M	0.78344	2.41	0.41774	D	0.989785	P;D;P	0.65815	0.956;0.995;0.69	B;P;B	0.58077	0.384;0.832;0.394	D	0.96231	0.9168	10	0.72032	D	0.01	.	9.8161	0.40853	0.0:0.0:0.795:0.205	.	279;318;265	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	T	279;242;318	ENSP00000377319:A279T;ENSP00000420297:A242T;ENSP00000336528:A318T	ENSP00000336528:A318T	A	+	1	0	NR1I2	121016556	0.075000	0.21258	0.975000	0.42487	0.346000	0.29079	2.305000	0.43664	2.393000	0.81446	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1	1	0	1	54	245	0	65	1	9.585037e-01	10	16	0	65	2		0	0	0	0	0	2	1	1	54	242	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR1I2	8856	broad.mit.edu	37	3	119536008	119536008	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119536008C>T	ENST00000337940.4	+	9	1419	c.1371C>T	c.(1369-1371)caC>caT	p.H457H	NR1I2_ENST00000393716.2_Silent_p.H418H|NR1I2_ENST00000466380.1_Silent_p.H381H	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2			23				Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGGACATACACCCCTTTGCTA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000337940.4	1	1	hg19	CCDS2995.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1	1	0	1	61	401	0	100	1	9.259732e-01	17	14	0	100	2		0	0	0	0	0	2	1	1	59	392	0	100	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
GSK3B	2932	broad.mit.edu	37	3	119812208	119812208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119812208C>T	ENST00000264235.8	-	1	1056	c.74G>A	c.(73-75)aGc>aAc	p.S25N	RP11-18H7.1_ENST00000469070.1_lincRNA|GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta			18				Lithium(DB01356)	AACTTTCATGCTGCCAAAAGC	0.468000																								0							SO:0001583	missense			ENST00000264235.8	0	1	hg19	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006165	0.19199	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.59906	0.23;0.28	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	N	0.19112	0.55	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25082	-1.0142	10	0.20046	T	0.44	-7.0844	15.0088	0.71533	0.0:1.0:0.0:0.0	.	25;25	P49841;P49841-2	GSK3B_HUMAN;.	N	25	ENSP00000264235:S25N;ENSP00000324806:S25N	ENSP00000264235:S25N	S	-	2	0	GSK3B	121294898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.014000	0.76380	2.118000	0.64928	0.551000	0.68910	AGC		TCGA-IB-7651-01A-11D-2154-08	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2	0	0	1	77	428	1	90	1	9.960318e-01	14	70	1	90	5		0	0	0	0	0	2	1	1	75	417	1	87	19								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFB4	4710	broad.mit.edu	37	3	120315332	120315332	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120315332G>A	ENST00000184266.2	+	1	177	c.126G>A	c.(124-126)caG>caA	p.Q42Q	NDUFB4_ENST00000485064.1_Silent_p.Q42Q|NDUFB4_ENST00000492739.1_Silent_p.Q42Q	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa			5					TAAGAGCCCAGCTGAAACGAG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000184266.2	1	1	hg19	CCDS2999.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	1	0	1	24	115	0	34	1	1	339	1124	0	34	2		0	0	0	0	0	2	1	9.999998e-01	24	112	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
HGD	3081	broad.mit.edu	37	3	120360511	120360511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120360511C>T	ENST00000283871.5	-	11	1263	c.804G>A	c.(802-804)tgG>tgA	p.W268*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase			25					AATTCCCGTGCCAGGCCACAA	0.433000																								0							SO:0001587	stop_gained			ENST00000283871.5	0	1	hg19	CCDS3000.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	5.999160|5.999160|5.999160	0.97189|0.97189|0.97189	.|.|.	.|.|.	ENSG00000113924|ENSG00000113924|ENSG00000113924	ENST00000475447|ENST00000494453|ENST00000283871	.|.|.	.|.|.	.|.|.	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|.|0.254500	.|.|0.42964	.|.|D	.|.|0.000639	T|T|.	0.46288|0.46288|.	0.1385|0.1385|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.34129|0.34129|.	-0.9841|-0.9841|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-16.2027|-16.2027|-16.2027	18.3691|18.3691|18.3691	0.90401|0.90401|0.90401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	T|D|X	78|75|268	.|.|.	.|.|ENSP00000283871:W268X	A|G|W	-|-|-	1|2|3	0|0|0	HGD|HGD|HGD	121843201|121843201|121843201	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	7.278000|7.278000|7.278000	0.78587|0.78587|0.78587	2.885000|2.885000|2.885000	0.99019|0.99019|0.99019	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1	1	0	0	63	345	0	96	1	9.981756e-01	2	52	0	96	2		0	0	0	0	0	2	1	1	62	337	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HGD	3081	broad.mit.edu	37	3	120365164	120365164	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120365164A>G	ENST00000283871.5	-	9	1058	c.599T>C	c.(598-600)aTc>aCc	p.I200T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase			25					GACCTCCAAGATGTAGCCCCT	0.478000																								0							SO:0001583	missense			ENST00000283871.5	1	1	hg19	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968412|3.968412	0.74131|0.74131	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000283871|ENST00000475447;ENST00000494453	D|.	0.99259|.	-5.64|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Cupin, RmlC-type (1);|.	0.155094|.	0.56097|.	D|.	0.000028|.	T|T	0.80215|0.80215	0.4582|0.4582	M|M	0.89414|0.89414	3.03|3.03	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.50443|.	0.935|.	D|.	0.71414|.	0.973|.	D|D	0.83610|0.83610	0.0133|0.0133	10|5	0.87932|.	D|.	0|.	-4.2769|-4.2769	13.9693|13.9693	0.64230|0.64230	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	200|.	Q93099|.	HGD_HUMAN|.	T|P	200|44;7	ENSP00000283871:I200T|.	ENSP00000283871:I200T|.	I|S	-|-	2|1	0|0	HGD|HGD	121847854|121847854	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.763000|0.763000	0.43281|0.43281	8.353000|8.353000	0.90077|0.90077	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	ATC|TCT		TCGA-IB-7651-01A-11D-2154-08	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1	1	0	1	61	307	0	78	1	9.983983e-01	39	12	0	78	2		0	0	0	0	0	2	1	1	61	305	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABL3	285282	broad.mit.edu	37	3	120428633	120428633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120428633C>T	ENST00000273375.3	-	3	291	c.262G>A	c.(262-264)Gta>Ata	p.V88I	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.V88I	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3			17					TTACCATTTACGGAGTTGTAG	0.383000																								0							SO:0001583	missense			ENST00000273375.3	1	1	hg19	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103688	0.08731	0.0	1.16E-4	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.74526	-0.85;-0.85	5.72	3.94	0.45596	.	0.171115	0.50627	N	0.000107	T	0.42517	0.1206	N	0.02697	-0.525	0.42127	D	0.99145	B	0.12013	0.005	B	0.08055	0.003	T	0.12915	-1.0529	10	0.15952	T	0.53	-3.7258	2.9984	0.06005	0.1445:0.5599:0.1399:0.1558	.	88	Q5HYI8	RABL3_HUMAN	I	88	ENSP00000273375:V88I;ENSP00000419986:V88I	ENSP00000273375:V88I	V	-	1	0	RABL3	121911323	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	2.196000	0.42686	0.766000	0.33244	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	1	0	0	22	268	0	45	0	8.438786e-01	0	43	0	45	2		0	0	0	0	0	2	1	9.999990e-01	22	268	0	45	2								-3.221886	1	1	121408	1	26	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.910000	0.580000	1.000000	1.000000	0.883496	0.910000	1	7.300000e-01	1
GTF2E1	2960	broad.mit.edu	37	3	120469705	120469705	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120469705G>A	ENST00000283875.5	+	2	399	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa			22					TTGTTAATGTGGTAAAATATA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000283875.5	1	1	hg19	CCDS3002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	1	0	1	56	282	0	82	1	8.968977e-01	6	16	0	82	2		0	0	0	0	0	2	1	1	56	278	1	82	15								-2.743605	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTF2E1	2960	broad.mit.edu	37	3	120499984	120499984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120499984G>T	ENST00000283875.5	+	5	1080	c.987G>T	c.(985-987)gaG>gaT	p.E329D		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa			22					TCATTCACGAGAAAAAGACTT	0.567000																								0							SO:0001583	missense			ENST00000283875.5	1	1	hg19	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779073	0.70107	.	.	ENSG00000153767	ENST00000283875	T	0.55413	0.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74671	-0.3587	10	0.56958	D	0.05	0.0028	11.6981	0.51554	0.0797:0.0:0.9203:0.0	.	329	P29083	T2EA_HUMAN	D	329	ENSP00000283875:E329D	ENSP00000283875:E329D	E	+	3	2	GTF2E1	121982674	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.137000	0.71710	2.814000	0.96858	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	1	0	1	53	259	0	52	1	9.966602e-01	16	29	0	52	2		0	0	0	0	0	2	1	1	52	250	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP5L	9515	broad.mit.edu	37	3	120941850	120941850	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120941850C>T	ENST00000273666.6	+	11	1228	c.957C>T	c.(955-957)agC>agT	p.S319S	STXBP5L_ENST00000497029.1_Splice_Site_p.S319S|STXBP5L_ENST00000492541.1_Splice_Site_p.S319S|STXBP5L_ENST00000471454.1_Splice_Site_p.S319S|STXBP5L_ENST00000472879.1_Splice_Site_p.S319S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like			68					TCCTATGTAGCGAACCATTCA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000273666.6	1	0	hg19	CCDS43137.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1	58	404	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1	57	392	0	118	2								-3.221890	1	1	120800	5	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999947	0.990000	1	9.900000e-01	1
STXBP5L	9515	broad.mit.edu	37	3	120976165	120976165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120976165G>A	ENST00000273666.6	+	17	2088	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like			68					ACAAAGGACAGTATTCCATGC	0.373000																								0							SO:0001583	missense			ENST00000273666.6	1	1	hg19	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	8.995	0.978561	0.18812	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.34275	2.04;2.04;1.84;1.37;1.85;2.04	5.33	5.33	0.75918	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	N	0.25380	0.74	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.72338	0.977;0.977	T	0.19451	-1.0305	10	0.16896	T	0.51	-20.4634	19.3771	0.94514	0.0:0.0:1.0:0.0	.	606;606	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	606	ENSP00000273666:S606N;ENSP00000420019:S606N;ENSP00000419627:S606N;ENSP00000420287:S606N;ENSP00000420666:S606N;ENSP00000420167:S606N	ENSP00000273666:S606N	S	+	2	0	STXBP5L	122458855	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.514000	0.73746	2.647000	0.89833	0.460000	0.39030	AGT		TCGA-IB-7651-01A-11D-2154-08	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1	103	418	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	100	410	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP5L	9515	broad.mit.edu	37	3	121126092	121126092	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126092A>G	ENST00000273666.6	+	24	2933	c.2662A>G	c.(2662-2664)Aca>Gca	p.T888A	STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like			68					TTTTATAGGTACATTCCTCTC	0.363000																								0							SO:0001583	missense			ENST00000273666.6	1	1	hg19	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790740	0.31685	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.13	3.98	0.46160	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.164164	0.56097	D	0.000040	T	0.19886	0.0478	L	0.51853	1.615	0.40957	D	0.98459	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	T	0.07673	-1.0760	10	0.20046	T	0.44	-12.4704	6.2561	0.20874	0.7843:0.0:0.0748:0.1409	.	864;888	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	A	888;864;864;862;888;831	ENSP00000273666:T888A;ENSP00000420019:T864A;ENSP00000419627:T864A;ENSP00000420287:T862A;ENSP00000420666:T888A;ENSP00000420167:T831A	ENSP00000273666:T888A	T	+	1	0	STXBP5L	122608782	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.672000	0.54583	0.997000	0.38969	0.449000	0.29647	ACA		TCGA-IB-7651-01A-11D-2154-08	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1	34	221	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	33	219	0	45	2								-20.000000	1	1	120652	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999758	0.990000	1	9.900000e-01	1
STXBP5L	9515	broad.mit.edu	37	3	121126378	121126378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126378C>T	ENST00000273666.6	+	24	3219	c.2948C>T	c.(2947-2949)gCa>gTa	p.A983V	STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like			68					ATACTGCAAGCAAATGTGGTG	0.403000																								0							SO:0001583	missense			ENST00000273666.6	1	1	hg19	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345014	0.95807	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.59906	1.82;1.33;1.33;1.33;1.33;0.23	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.69335	-0.5172	10	0.21014	T	0.42	-19.0912	19.3769	0.94514	0.0:1.0:0.0:0.0	.	959;983	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	983;959;959;957;983;926	ENSP00000273666:A983V;ENSP00000420019:A959V;ENSP00000419627:A959V;ENSP00000420287:A957V;ENSP00000420666:A983V;ENSP00000420167:A926V	ENSP00000273666:A983V	A	+	2	0	STXBP5L	122609068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.660000	0.90430	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	0	0	0	17	457	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	9.999646e-01	17	454	0	86	2								-15.947940	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.430000	0.260000	1.000000	0.430000	0.474134	0.430000	0	3.400000e-01	5.700000e-01
STXBP5L	9515	broad.mit.edu	37	3	121132069	121132069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121132069C>T	ENST00000273666.6	+	25	3356	c.3085C>T	c.(3085-3087)Cga>Tga	p.R1029*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like			68					GAGGATAGCACGAACATTTTG	0.383000																								0							SO:0001587	stop_gained			ENST00000273666.6	0	1	hg19	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	39	7.524871	0.98339	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	.	.	.	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7142	16.6818	0.85294	0.1308:0.8692:0.0:0.0	.	.	.	.	X	1029;1005;972	.	ENSP00000273666:R1029X	R	+	1	2	STXBP5L	122614759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.153000	0.50685	1.549000	0.49425	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1	81	344	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1	80	337	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP5L	9515	broad.mit.edu	37	3	121137938	121137938	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121137938A>C	ENST00000273666.6	+	28	3826	c.3555A>C	c.(3553-3555)caA>caC	p.Q1185H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like			68					AATGGTACCAATTCTGACTTC	0.368000																								0							SO:0001583	missense			ENST00000273666.6	1	1	hg19	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443462	0.63067	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.30714	1.52;1.53;1.57	5.84	2.25	0.28309	.	0.054083	0.85682	D	0.000000	T	0.51975	0.1706	M	0.82323	2.585	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.50915	-0.8771	10	0.87932	D	0	-9.0245	6.5322	0.22334	0.4146:0.0:0.5854:0.0	.	1161;1185	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	1185;1161;1128	ENSP00000273666:Q1185H;ENSP00000420019:Q1161H;ENSP00000420167:Q1128H	ENSP00000273666:Q1185H	Q	+	3	2	STXBP5L	122620628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.832000	0.48152	0.498000	0.27948	0.459000	0.35465	CAA		TCGA-IB-7651-01A-11D-2154-08	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1	77	320	0	79	0	3.860902e-02	0	2	0	79	2		0	0	0	0	0	2	1	1	76	313	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLQ	10721	broad.mit.edu	37	3	121256050	121256050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121256050C>T	ENST00000264233.5	-	5	765	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta			120					TCCACAACCACCATTCCTAAA	0.363000								DNA polymerases (catalytic subunits)					Pancreas(152;907 1925 26081 31236 36904)											0							SO:0001583	missense			ENST00000264233.5	1	1	hg19	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628850	0.67015	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.18338	2.22	4.92	4.92	0.64577	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.180534	0.48286	D	0.000190	T	0.38295	0.1035	M	0.82132	2.575	0.47862	D	0.999533	D	0.55172	0.97	P	0.60415	0.874	T	0.18840	-1.0324	10	0.49607	T	0.09	.	11.5968	0.50979	0.0:0.9176:0.0:0.0824	.	213	O75417	DPOLQ_HUMAN	M	213;348	ENSP00000264233:V213M	ENSP00000264233:V213M	V	-	1	0	POLQ	122738740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.514000	0.67043	2.259000	0.74868	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	1	0	1	49	258	0	77	0	7.053210e-02	1	2	0	77	2		0	0	0	0	0	2	1	1	48	257	0	77	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLQ	10721	broad.mit.edu	37	3	121258312	121258312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121258312C>T	ENST00000264233.5	-	4	727	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	p.R333H(1)		120					CTCTATGAGGCGATTGATCAG	0.383000								DNA polymerases (catalytic subunits)					Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264233.5	1	1	hg19	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426896	0.96131	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.15603	2.41	5.97	5.97	0.96955	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.141423	0.64402	D	0.000008	T	0.41994	0.1183	M	0.67700	2.07	0.80722	D	1	D	0.62365	0.991	D	0.63381	0.914	T	0.08785	-1.0705	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	200	O75417	DPOLQ_HUMAN	H	200;335	ENSP00000264233:R200H	ENSP00000264233:R200H	R	-	2	0	POLQ	122741002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.738000	0.68613	2.828000	0.97474	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	1	0	1	66	349	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	64	342	0	87	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO40	51725	broad.mit.edu	37	3	121341875	121341875	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341875A>G	ENST00000338040.4	+	3	2013	c.1599A>G	c.(1597-1599)aaA>aaG	p.K533K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40			46					AAAAGGCAAAAGTAATCTATA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000338040.4	1	1	hg19	CCDS33835.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	1	0	1	50	223	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	48	218	0	47	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGB1	2804	broad.mit.edu	37	3	121386347	121386347	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121386347G>T	ENST00000340645.5	-	20	9640	c.9515C>A	c.(9514-9516)tCt>tAt	p.S3172Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S3182Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1			119					CTCGGCCACAGAGAGAGCATT	0.498000																								0							SO:0001583	missense			ENST00000340645.5	1	1	hg19	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937865	0.34189	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15603	2.41;2.41	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000013	T	0.24699	0.0599	L	0.27053	0.805	0.30771	N	0.742987	D;D;P	0.60575	0.988;0.988;0.496	P;P;B	0.58331	0.837;0.837;0.261	T	0.02588	-1.1137	10	0.66056	D	0.02	.	14.1868	0.65609	0.0:0.0:1.0:0.0	.	3182;3182;3172	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Y	3172;3182	ENSP00000341848:S3172Y;ENSP00000377275:S3182Y	ENSP00000341848:S3172Y	S	-	2	0	GOLGB1	122869037	0.029000	0.19370	0.245000	0.24217	0.249000	0.25844	0.946000	0.29069	2.740000	0.93945	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1	83	331	0	77	1	1	143	280	0	77	2		0	0	0	0	0	2	1	1	79	328	0	76	2								-3.187495	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGB1	2804	broad.mit.edu	37	3	121400548	121400548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121400548C>T	ENST00000340645.5	-	15	8969	c.8844G>A	c.(8842-8844)gaG>gaA	p.E2948E	GOLGB1_ENST00000393667.3_Silent_p.E2953E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1			119					GCTGATGCAGCTCATGCTGCC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000340645.5	1	1	hg19	CCDS3004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	0	110	500	0	135	1	1	79	195	0	135	2		0	0	0	0	0	2	1	1	106	497	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGB1	2804	broad.mit.edu	37	3	121410400	121410400	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121410400T>G	ENST00000340645.5	-	14	7921	c.7796A>C	c.(7795-7797)gAt>gCt	p.D2599A	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2604A	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1			119					TTTAGATAAATCTTGTTTCTC	0.373000																								0							SO:0001583	missense			ENST00000340645.5	1	1	hg19	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	0.592	-0.832790	0.02713	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13657	2.57;2.57	5.25	-1.15	0.09709	.	0.970057	0.08526	N	0.932793	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B;B;B	0.16396	0.01;0.017;0.01	B;B;B	0.16289	0.006;0.015;0.006	T	0.43798	-0.9369	10	0.13108	T	0.6	.	1.989	0.03442	0.1214:0.398:0.239:0.2416	.	2604;2604;2599	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	A	2599;2604	ENSP00000341848:D2599A;ENSP00000377275:D2604A	ENSP00000341848:D2599A	D	-	2	0	GOLGB1	122893090	0.000000	0.05858	0.562000	0.28370	0.588000	0.36517	0.043000	0.13971	0.061000	0.16311	-0.242000	0.12053	GAT		TCGA-IB-7651-01A-11D-2154-08	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1	77	329	0	83	1	1	74	139	0	83	2		0	0	0	0	0	2	1	1	77	324	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGB1	2804	broad.mit.edu	37	3	121414124	121414124	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414124G>T	ENST00000340645.5	-	13	5356	c.5231C>A	c.(5230-5232)tCt>tAt	p.S1744Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1749Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	p.S1744C(1)		119					AGACATTAAAGACTGAAACTT	0.383000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000340645.5	1	1	hg19	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864786	0.00547	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15139	2.45;2.45	5.62	0.644	0.17776	.	0.851473	0.10173	N	0.706812	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	P;P;P;B	0.38711	0.643;0.643;0.643;0.4	B;B;B;B	0.34301	0.179;0.179;0.179;0.169	T	0.24154	-1.0168	10	0.62326	D	0.03	.	1.697	0.02864	0.1462:0.2559:0.3346:0.2633	.	1669;1749;1749;1744	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Y	1744;1749	ENSP00000341848:S1744Y;ENSP00000377275:S1749Y	ENSP00000341848:S1744Y	S	-	2	0	GOLGB1	122896814	0.004000	0.15560	0.023000	0.16930	0.006000	0.05464	0.999000	0.29757	-0.175000	0.10725	-0.309000	0.09137	TCT		TCGA-IB-7651-01A-11D-2154-08	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	0	25	513	0	111	1	9.679436e-01	4	113	0	111	2		0	0	0	0	0	2	1	9.999998e-01	25	507	0	111	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.560000	0.360000	1.000000	0.540000	0.589080	0.560000	0	4.500000e-01	7.000000e-01
GOLGB1	2804	broad.mit.edu	37	3	121414270	121414270	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414270C>T	ENST00000340645.5	-	13	5210	c.5085G>A	c.(5083-5085)gaG>gaA	p.E1695E	GOLGB1_ENST00000393667.3_Silent_p.E1700E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1			119					GCCGGTCATTCTCTTCTTCCA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000340645.5	1	1	hg19	CCDS3004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1	188	940	0	191	1	1	77	118	0	191	2		0	0	0	0	0	2	1	1	184	919	0	191	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGB1	2804	broad.mit.edu	37	3	121417334	121417334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121417334G>A	ENST00000340645.5	-	13	2146	c.2021C>T	c.(2020-2022)gCt>gTt	p.A674V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A679V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1			119					ATCTGGTACAGCAGAAAGGGA	0.363000																								0							SO:0001583	missense			ENST00000340645.5	1	1	hg19	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	6.489	0.458457	0.12342	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23552	2.49;2.49;1.9	4.36	-0.732	0.11147	.	0.415295	0.22857	N	0.054782	T	0.14485	0.0350	L	0.38838	1.175	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.003;0.0;0.001;0.0	B;B;B;B;B	0.13407	0.002;0.009;0.002;0.007;0.002	T	0.13872	-1.0493	10	0.31617	T	0.26	.	3.3697	0.07216	0.2961:0.0:0.3445:0.3594	.	599;638;679;679;674	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	674;679;638;486	ENSP00000341848:A674V;ENSP00000377275:A679V;ENSP00000418231:A638V	ENSP00000341848:A674V	A	-	2	0	GOLGB1	122900024	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	0.123000	0.15708	-0.039000	0.13602	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	1	0	1	33	367	0	51	1	9.958984e-01	10	86	0	51	2		0	0	0	0	0	2	1	1	32	363	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.980000	0.690000	1.000000	1.000000	0.933646	0.980000	1	8.200000e-01	1
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1			30					GGCCTGCTTGGCCTTGGCTGC	0.502000																								0							SO:0001583	missense			ENST00000310864.6	1	1	hg19	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675748	0.88445	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	L	0.61218	1.895	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.88294	0.2945	10	0.87932	D	0	-5.2747	14.7509	0.69525	0.0:0.0:1.0:0.0	.	549;416	Q15051;Q15051-2	IQCB1_HUMAN;.	V	549;416	ENSP00000311505:A549V;ENSP00000323756:A416V	ENSP00000311505:A549V	A	-	2	0	IQCB1	122972033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.165000	0.71891	2.857000	0.98124	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	1	0	1	172	826	0	220	1	9.998907e-01	7	57	0	220	2		0	0	0	0	0	2	1	1	170	815	0	218	2								-3.325023	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQCB1	9657	broad.mit.edu	37	3	121509063	121509063	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121509063C>A	ENST00000310864.6	-	11	1201		c.e11-1		IQCB1_ENST00000349820.6_Splice_Site	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1			30					TCGTTTGGATCTGTGATGGAA	0.318000																								0							SO:0001630	splice_region_variant			ENST00000310864.6	1	1	hg19	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667687	0.47677	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0225	0.64565	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQCB1	122991753	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.337000	0.52120	2.757000	0.94681	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	1	0	1	148	667	0	137	1	3.344276e-02	2	0	0	137	2		0	0	0	0	0	2	1	1	147	660	0	136	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD86	942	broad.mit.edu	37	3	121810499	121810499	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121810499T>C	ENST00000330540.2	+	2	180		c.e2+2		CD86_ENST00000264468.5_Splice_Site|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000469710.1_Intron|CD86_ENST00000393627.2_Splice_Site	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule			23				Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGCTCTCTGGTAAGAACCTTT	0.438000													GBM(67;1379 1389 36064 39806)											0							SO:0001630	splice_region_variant			ENST00000330540.2	1	1	hg19	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	T	8.352	0.831086	0.16820	.	.	ENSG00000114013	ENST00000493101;ENST00000330540;ENST00000264468;ENST00000482356;ENST00000393627;ENST00000478741	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3554	0.43960	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD86	123293189	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	3.066000	0.50002	2.216000	0.71823	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	0	0	1	258	1134	0	210	0	3.448018e-02	0	2	0	210	2	1	1	133	704	0	744	2	1	1	253	1113	0	208	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASR	846	broad.mit.edu	37	3	121980530	121980530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980530C>T	ENST00000490131.1	+	4	1020	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_ENST00000296154.5_Silent_p.D216D|CASR_ENST00000498619.1_Silent_p.D216D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	p.D216D(1)		84				Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000490131.1	1	1	hg19	CCDS3010.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	1	0	1	164	728	0	176	0	3.802720e-01	0	7	0	176	2		0	0	0	0	0	2	1	1	159	711	0	175	2								-20.000000	1	1	121412	1	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASR	846	broad.mit.edu	37	3	121980656	121980656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980656G>A	ENST00000490131.1	+	4	1146	c.774G>A	c.(772-774)gtG>gtA	p.V258V	CASR_ENST00000296154.5_Silent_p.V258V|CASR_ENST00000498619.1_Silent_p.V258V	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor			84				Cinacalcet(DB01012)	TGGTAGAGGTGATTCAAAATT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000490131.1	1	1	hg19	CCDS3010.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	1	0	1	193	734	0	155	0	2.806088e-01	0	5	0	155	2		0	0	0	0	0	2	1	1	191	722	0	155	2								-3.812187	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASR	846	broad.mit.edu	37	3	122002933	122002933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002933C>T	ENST00000490131.1	+	7	2504	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	CASR_ENST00000296154.5_Missense_Mutation_p.P711L|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.P721L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor			84				Cinacalcet(DB01012)	GCCAAGATCCCCACCAGCTTC	0.572000																								0							SO:0001583	missense			ENST00000490131.1	1	1	hg19	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373344	0.82573	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87729	-2.29;-2.29;-2.29	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95423	0.8509	10	0.87932	D	0	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	721;711	E7ENE0;P41180	.;CASR_HUMAN	L	711;721;711	ENSP00000418685:P711L;ENSP00000420194:P721L;ENSP00000296154:P711L	ENSP00000296154:P711L	P	+	2	0	CASR	123485623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	1	0	1	66	292	0	50	0	7.923179e-01	0	15	0	50	2		0	0	0	0	0	2	1	1	66	286	0	48	2								-2.963333	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASR	846	broad.mit.edu	37	3	122003168	122003168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122003168C>T	ENST00000490131.1	+	7	2739	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	CASR_ENST00000296154.5_Silent_p.F789F|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Silent_p.F799F	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor			84				Cinacalcet(DB01012)	TCTGCTTCTTCTTTGCCTTCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000490131.1	1	1	hg19	CCDS3010.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	1	0	0	12	240	0	48	0	2.495758e-02	0	5	0	48	2		0	0	0	0	0	2	1	9.991185e-01	12	237	0	48	2								-14.376170	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.580000	0.310000	1.000000	0.550000	0.616035	0.580000	0	4.300000e-01	8.000000e-01
FAM162A	26355	broad.mit.edu	37	3	122126163	122126163	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122126163G>A	ENST00000477892.1	+	4	383	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q|FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A			6					AACAAGATGCGAGTGAAGATC	0.423000																								0							SO:0001583	missense			ENST00000477892.1	1	1	hg19	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378827	0.61735	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.61742	0.08;0.08;0.08	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.89095	3.005	0.41776	D	0.989797	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.971	T	0.82564	-0.0394	10	0.72032	D	0.01	.	14.8533	0.70316	0.0:0.0:1.0:0.0	.	100;100	E9PH05;Q96A26	.;F162A_HUMAN	Q	90;100;100;99	ENSP00000232125:R90Q;ENSP00000419088:R100Q;ENSP00000419491:R100Q	ENSP00000232125:R90Q	R	+	2	0	FAM162A	123608853	0.996000	0.38824	0.797000	0.32132	0.005000	0.04900	6.467000	0.73547	2.880000	0.98712	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	1	0	1	26	257	0	75	1	1	127	752	0	75	2		0	0	0	0	0	2	1	9.999999e-01	26	253	0	75	2								-2.559126	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.730000	1.000000	1.000000	0.965057	0.990000	1	9.000000e-01	1
WDR5B	54554	broad.mit.edu	37	3	122134224	122134224	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122134224G>T	ENST00000330689.4	-	1	658	c.152C>A	c.(151-153)cCt>cAt	p.P51H	RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B			13					TTCTCCATTAGGACTAAACTT	0.413000																								0							SO:0001583	missense			ENST00000330689.4	1	1	hg19	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934146	0.52866	.	.	ENSG00000196981	ENST00000330689	T	0.70516	-0.49	4.78	3.89	0.44902	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.78456	2.415	0.80722	D	1	P	0.40180	0.705	B	0.38921	0.285	T	0.75528	-0.3286	10	0.72032	D	0.01	.	12.3839	0.55322	0.0:0.0:0.8302:0.1698	.	51	Q86VZ2	WDR5B_HUMAN	H	51	ENSP00000330381:P51H	ENSP00000330381:P51H	P	-	2	0	WDR5B	123616914	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.334000	0.90028	1.354000	0.45846	-0.311000	0.09066	CCT		TCGA-IB-7651-01A-11D-2154-08	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	1	0	1	186	925	0	179	1	9.457477e-01	6	20	0	179	2		0	0	0	0	0	2	1	1	184	908	0	179	2								-2.808236	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP9	83666	broad.mit.edu	37	3	122274783	122274783	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122274783G>T	ENST00000360356.2	-	4	567	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	PARP9_ENST00000477522.2_Missense_Mutation_p.L79M|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000462315.1_Missense_Mutation_p.L79M	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9			34					CTAGGAGTCAGCATTTTTCTG	0.473000																								0							SO:0001583	missense			ENST00000360356.2	1	1	hg19	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522233	0.44866	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315;ENST00000466126	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.4	4.45	0.53987	Appr-1-p processing (1);	0.000000	0.42420	D	0.000709	T	0.49064	0.1535	M	0.85630	2.765	0.48632	D	0.999689	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.77004	0.957;0.988;0.989	T	0.49399	-0.8944	10	0.51188	T	0.08	.	6.7817	0.23650	0.15:0.0:0.85:0.0	.	79;114;79	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	M	114;79;79;37;79;92	ENSP00000353512:L114M;ENSP00000419506:L79M;ENSP00000419001:L79M;ENSP00000418894:L79M;ENSP00000419626:L92M	ENSP00000353512:L114M	L	-	1	2	PARP9	123757473	0.895000	0.30542	0.532000	0.27989	0.141000	0.21300	1.443000	0.35057	2.818000	0.97014	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	1	0	1	50	179	0	40	1	1	74	198	0	40	2		0	0	0	0	0	2	1	1	49	175	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DTX3L	151636	broad.mit.edu	37	3	122288313	122288313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122288313C>T	ENST00000296161.4	+	3	1566	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase			24					AGTCTTTGGGCAAGGAGAGAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000296161.4	1	1	hg19	CCDS3015.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	1	0	1	105	531	0	143	1	1	55	174	0	143	2		0	0	0	0	0	2	1	1	105	524	0	142	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP15	165631	broad.mit.edu	37	3	122353966	122353966	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122353966T>G	ENST00000464300.2	+	11	1738	c.1672T>G	c.(1672-1674)Ttc>Gtc	p.F558V	PARP15_ENST00000310366.4_Missense_Mutation_p.F324V|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V|PARP15_ENST00000483793.1_Missense_Mutation_p.F363V	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15			24					GAGACTCCTCTTCCATGGGAC	0.418000																								0							SO:0001583	missense			ENST00000464300.2	1	1	hg19	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128775	0.77549	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.83	3.83	0.44106	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.62660	0.2446	H	0.97103	3.94	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.989;0.999;0.998	T	0.74592	-0.3614	9	0.87932	D	0	.	11.5636	0.50792	0.0:0.0:0.0:1.0	.	255;324;305;363;536	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	V	558;363;305;324;255	ENSP00000417214:F558V;ENSP00000417785:F363V;ENSP00000308436:F324V;ENSP00000419488:F255V	ENSP00000308436:F324V	F	+	1	0	PARP15	123836656	1.000000	0.71417	0.924000	0.36721	0.989000	0.77384	7.617000	0.83032	1.609000	0.50190	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	1	0	1	59	231	0	49	0	4.372317e-01	0	7	0	49	2		0	0	0	0	0	2	1	1	59	226	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP14	54625	broad.mit.edu	37	3	122405935	122405935	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122405935G>A	ENST00000474629.2	+	3	596	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14			50					AGGAATCCAAGACCAAAGAAG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000474629.2	0	1	hg19	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.849109	0.02651	.	.	ENSG00000173193	ENST00000494811	.	.	.	5.05	2.18	0.27775	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	3.4574	0.07521	0.0919:0.1566:0.5622:0.1894	.	.	.	.	N	119	.	.	D	+	1	0	PARP14	123888625	0.394000	0.25246	0.033000	0.17914	0.408000	0.30992	0.663000	0.25053	0.267000	0.21916	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	0	5	51	0	8	1	9.996965e-01	34	194	0	8	2		0	0	0	0	0	2	1	9.376105e-01	5	50	0	7	2								-10.273830	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.430000	1.000000	1.000000	0.896273	0.990000	1	7.100000e-01	1
PARP14	54625	broad.mit.edu	37	3	122411328	122411328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122411328A>C	ENST00000474629.2	+	4	802	c.536A>C	c.(535-537)gAc>gCc	p.D179A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14			50					TCTAATGATGACTTTCAAGTG	0.373000																								0							SO:0001583	missense			ENST00000474629.2	1	1	hg19	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563013	0.27915	.	.	ENSG00000173193	ENST00000474629	T	0.71934	-0.61	5.5	5.5	0.81552	.	.	.	.	.	T	0.70535	0.3235	M	0.70275	2.135	0.45261	D	0.998264	B	0.20887	0.049	B	0.19666	0.026	T	0.69239	-0.5197	9	0.54805	T	0.06	.	14.5787	0.68271	1.0:0.0:0.0:0.0	.	179	Q460N5	PAR14_HUMAN	A	179	ENSP00000418194:D179A	ENSP00000420649:D20A	D	+	2	0	PARP14	123894018	0.999000	0.42202	0.595000	0.28798	0.005000	0.04900	3.070000	0.50033	2.308000	0.77769	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	1	38	136	0	28	1	1	66	139	0	28	2		0	0	0	0	0	2	1	1	38	135	0	28	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP14	54625	broad.mit.edu	37	3	122420074	122420074	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122420074G>A	ENST00000474629.2	+	6	2939	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14			50					ATGAGGCCCCGAGGTGTGTGT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000474629.2	1	1	hg19	CCDS46894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	1	21	97	0	24	1	1	62	174	0	24	2		0	0	0	0	0	2	1	9.999986e-01	21	95	0	24	2								-20.000000	1	1	120868	2	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999926	0.990000	1	9.900000e-01	1
PARP14	54625	broad.mit.edu	37	3	122422767	122422767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122422767G>A	ENST00000474629.2	+	7	3526	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14			50					CTGGACTGTCGCTATGTGCTT	0.537000																								0							SO:0001583	missense			ENST00000474629.2	1	1	hg19	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292300	0.40594	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.24350	1.86	5.71	-8.83	0.00806	Appr-1-p processing (3);	3.195390	0.00424	N	0.000074	T	0.28067	0.0692	M	0.75884	2.315	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.06405	0.001;0.002	T	0.37197	-0.9716	10	0.49607	T	0.09	.	10.8773	0.46919	0.2551:0.2042:0.5407:0.0	.	1087;1087	Q460N5-4;Q460N5	.;PAR14_HUMAN	H	1087;1006;83	ENSP00000418194:R1087H	ENSP00000381224:R83H	R	+	2	0	PARP14	123905457	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.031000	0.03578	-1.404000	0.02050	-0.793000	0.03317	CGC		TCGA-IB-7651-01A-11D-2154-08	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	1	109	437	0	115	1	1	68	196	0	115	2		0	0	0	0	0	2	1	1	108	429	0	115	2								-20.000000	1	1	121016	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP14	54625	broad.mit.edu	37	3	122433238	122433238	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122433238A>C	ENST00000474629.2	+	12	4228	c.3962A>C	c.(3961-3963)aAa>aCa	p.K1321T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14			50					TGTGAAAAAAAAAATTACTCA	0.433000																								0							SO:0001583	missense			ENST00000474629.2	1	0	hg19	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	7.706	0.694120	0.15039	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.24908	1.83	5.51	-1.77	0.07982	Appr-1-p processing (3);	1.276660	0.05270	N	0.517289	T	0.24736	0.0600	L	0.49126	1.545	0.09310	N	1	B;B	0.24317	0.007;0.101	B;B	0.35770	0.002;0.21	T	0.41251	-0.9519	10	0.15499	T	0.54	.	5.7315	0.18042	0.2248:0.0:0.2059:0.5693	.	1321;1321	Q460N5-4;Q460N5	.;PAR14_HUMAN	T	1321;1240;317	ENSP00000418194:K1321T	ENSP00000381224:K317T	K	+	2	0	PARP14	123915928	0.000000	0.05858	0.018000	0.16275	0.327000	0.28475	-0.784000	0.04633	-0.101000	0.12219	-0.337000	0.08149	AAA		TCGA-IB-7651-01A-11D-2154-08	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	1	0	1	24	166	0	44	1	1	107	236	0	44	2		0	0	0	0	0	2	1	9.999998e-01	24	165	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998114	0.990000	1	9.900000e-01	1
PARP14	54625	broad.mit.edu	37	3	122446723	122446723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122446723C>T	ENST00000474629.2	+	16	5272	c.5006C>T	c.(5005-5007)gCc>gTc	p.A1669V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14			50					ACTATGGATGCCAAGAATGGC	0.453000																								0							SO:0001583	missense			ENST00000474629.2	1	1	hg19	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160607	0.38119	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.10477	2.87	5.69	0.605	0.17553	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.769194	0.11796	N	0.528684	T	0.09423	0.0232	L	0.60845	1.875	0.09310	N	1	P	0.36183	0.542	B	0.24006	0.05	T	0.20672	-1.0268	10	0.30078	T	0.28	.	10.1445	0.42755	0.6142:0.3129:0.0:0.0729	.	1669	Q460N5	PAR14_HUMAN	V	1669;1588;665	ENSP00000418194:A1669V	ENSP00000381224:A665V	A	+	2	0	PARP14	123929413	0.000000	0.05858	0.997000	0.53966	0.990000	0.78478	-1.492000	0.02300	0.159000	0.19401	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	0	0	1	38	147	0	46	1	1	120	320	0	46	2		0	0	0	0	0	2	1	1	37	146	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPBAP1	79663	broad.mit.edu	37	3	122459627	122459627	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459627G>T	ENST00000306103.2	-	8	1175	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1			16					TCAGTGCTTGGATTTCTACTA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000306103.2	1	1	hg19	CCDS3017.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	0	0	1	148	703	0	151	1	9.995640e-01	16	39	0	151	2		0	0	0	0	0	2	1	1	147	699	0	151	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPBAP1	79663	broad.mit.edu	37	3	122459673	122459673	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459673A>C	ENST00000306103.2	-	8	1129	c.986T>G	c.(985-987)gTt>gGt	p.V329G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1			16					AAATGCAGAAACAGCTGCATT	0.388000																								0							SO:0001583	missense			ENST00000306103.2	1	1	hg19	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907393	0.72868	.	.	ENSG00000169087	ENST00000306103	T	0.41758	0.99	5.38	5.38	0.77491	Cupin, JmjC-type (1);	0.694163	0.14446	N	0.319061	T	0.54431	0.1858	M	0.65498	2.005	0.80722	D	1	D	0.54047	0.964	P	0.52267	0.694	T	0.57464	-0.7807	10	0.87932	D	0	.	13.2584	0.60091	1.0:0.0:0.0:0.0	.	329	Q96EW2	HBAP1_HUMAN	G	329	ENSP00000302562:V329G	ENSP00000302562:V329G	V	-	2	0	HSPBAP1	123942363	0.983000	0.35010	0.092000	0.20876	0.984000	0.73092	3.869000	0.56062	2.264000	0.75181	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	0	0	0	23	580	0	96	1	5.176209e-01	3	41	0	96	2		0	0	0	0	0	2	1	9.999992e-01	23	567	0	95	2								-4.305570	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.460000	0.290000	1.000000	0.440000	0.495590	0.460000	0	3.700000e-01	5.800000e-01
HSPBAP1	79663	broad.mit.edu	37	3	122474183	122474183	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122474183A>C	ENST00000306103.2	-	5	808	c.665T>G	c.(664-666)gTt>gGt	p.V222G	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1			16					AGGATTGACAACATTGATTTT	0.393000																								0							SO:0001583	missense			ENST00000306103.2	1	1	hg19	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576601	0.86645	.	.	ENSG00000169087	ENST00000306103	T	0.25749	1.78	5.24	5.24	0.73138	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.056069	0.64402	D	0.000001	T	0.51907	0.1702	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.56251	-0.8010	10	0.59425	D	0.04	.	14.3887	0.66963	1.0:0.0:0.0:0.0	.	222	Q96EW2	HBAP1_HUMAN	G	222	ENSP00000302562:V222G	ENSP00000302562:V222G	V	-	2	0	HSPBAP1	123956873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.569000	0.90744	1.994000	0.58287	0.473000	0.43528	GTT		TCGA-IB-7651-01A-11D-2154-08	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	1	0	0	25	258	0	47	1	7.412766e-01	3	26	0	47	2		0	0	0	0	0	2	1	9.999998e-01	25	253	0	46	2								-9.156934	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.952475	0.990000	1	8.600000e-01	1
SEMA5B	54437	broad.mit.edu	37	3	122629748	122629748	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122629748T>C	ENST00000357599.3	-	22	3622	c.3236A>G	c.(3235-3237)cAt>cGt	p.H1079R	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B			55					GTAGTGCAAATGGTTGGGGGT	0.532000																								0							SO:0001583	missense			ENST00000357599.3	1	1	hg19	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.088454|4.088454	0.76756|0.76756	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000357599;ENST00000418793;ENST00000451055;ENST00000393583|ENST00000451541	T;T;T|.	0.33865|.	1.39;1.45;1.48|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52256|0.52256	0.1723|0.1723	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.59357|.	0.982;0.985|.	P;P|.	0.59889|.	0.865;0.84|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.15066|.	T|.	0.55|.	.|.	13.7969|13.7969	0.63177|0.63177	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	985;1079|.	D3YTI7;Q9P283|.	.;SEM5B_HUMAN|.	R|V	1079;985;1133;1079|125	ENSP00000350215:H1079R;ENSP00000389588:H1133R;ENSP00000377208:H1079R|.	ENSP00000350215:H1079R|.	H|I	-|-	2|1	0|0	SEMA5B|SEMA5B	124112438|124112438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.309000|7.309000	0.78937|0.78937	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	CAT|ATT		TCGA-IB-7651-01A-11D-2154-08	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	0	32	406	0	79	0	5.782313e-03	0	2	0	79	2		0	0	0	0	0	2	1	1	32	385	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.870000	0.610000	1.000000	1.000000	0.867547	0.870000	1	7.300000e-01	1
SEMA5B	54437	broad.mit.edu	37	3	122631763	122631763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122631763C>T	ENST00000357599.3	-	18	3038	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E	SEMA5B_ENST00000195173.4_Silent_p.E883E|SEMA5B_ENST00000451055.2_Silent_p.E938E	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B			55					CGTTGCGGGGCTCCGGGTTAG	0.706000																								0							SO:0001819	synonymous_variant			ENST00000357599.3	1	1	hg19	CCDS35491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	1	88	355	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	88	343	0	52	2								-3.611684	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA5B	54437	broad.mit.edu	37	3	122634371	122634371	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122634371C>T	ENST00000357599.3	-	14	2290	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R635Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B			55					GGATCGAGCTCGACACAGGCA	0.622000																								0							SO:0001583	missense			ENST00000357599.3	1	1	hg19	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626479	0.66901	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.88	3.97	0.46021	.	0.056769	0.64402	N	0.000001	T	0.69269	0.3092	M	0.87381	2.88	0.58432	D	0.999992	D;B;B	0.89917	1.0;0.088;0.088	D;B;B	0.97110	1.0;0.05;0.05	T	0.71344	-0.4621	10	0.45353	T	0.12	.	10.3826	0.44121	0.0:0.8989:0.0:0.1011	.	577;635;635	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	635;635;577;689;635	ENSP00000350215:R635Q;ENSP00000195173:R635Q;ENSP00000389588:R689Q;ENSP00000377208:R635Q	ENSP00000195173:R635Q	R	-	2	0	SEMA5B	124117061	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.785000	0.62418	1.180000	0.42898	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	1	54	216	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1	52	213	0	56	2								-20.000000	1	0	121412	2	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA5B	54437	broad.mit.edu	37	3	122642572	122642572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122642572G>A	ENST00000357599.3	-	10	1550	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_ENST00000195173.4_Silent_p.C388C|SEMA5B_ENST00000451055.2_Silent_p.C442C	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	p.C388C(1)|p.C442C(1)		55					GGTTGAAGGCGCAGACAGCAG	0.592000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000357599.3	1	1	hg19	CCDS35491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	1	95	464	0	106	0	0	0	1	0	106	2		0	0	0	0	0	2	1	1	93	453	0	105	2								-3.092872	1	1	121412	3	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA5B	54437	broad.mit.edu	37	3	122646797	122646797	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122646797G>T	ENST00000357599.3	-	8	1076	c.690C>A	c.(688-690)ccC>ccA	p.P230P	SEMA5B_ENST00000195173.4_Silent_p.P230P|AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Silent_p.P284P	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B			55					GTGGGTCATAGGGGCAGCGGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000357599.3	1	1	hg19	CCDS35491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	1	65	339	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	1	64	334	0	76	2								-2.931768	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC22A	26984	broad.mit.edu	37	3	122978426	122978426	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122978426G>A	ENST00000309934.4	+	5	1609	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	SEC22A_ENST00000481965.2_Missense_Mutation_p.A80T|SEC22A_ENST00000492595.1_Missense_Mutation_p.C238Y	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)			10					ACAGCAGCCTGCCTTTACCAG	0.333000																								0							SO:0001583	missense			ENST00000309934.4	0	1	hg19	CCDS3021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432005|3.432005	0.62844|0.62844	.|.	.|.	ENSG00000121542|ENSG00000121542	ENST00000481965|ENST00000492595;ENST00000473494;ENST00000309934	.|T;T;T	.|0.20069	.|2.1;2.11;2.1	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34890|0.34890	0.0913|0.0913	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.36733	.|0.567	.|B	.|0.42343	.|0.384	T|T	0.18650|0.18650	-1.0330|-1.0330	6|10	0.30854|0.87932	T|D	0.27|0	1.1136|1.1136	14.4762|14.4762	0.67548|0.67548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|238	.|Q96IW7	.|SC22A_HUMAN	T|Y	80|238	.|ENSP00000417972:C238Y;ENSP00000420343:C238Y;ENSP00000310521:C238Y	ENSP00000420128:A80T|ENSP00000310521:C238Y	A|C	+|+	1|2	0|0	SEC22A|SEC22A	124461116|124461116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.568000|6.568000	0.73987|0.73987	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	GCC|TGC		TCGA-IB-7651-01A-11D-2154-08	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	0	0	0	5	123	0	30	1	9.291568e-01	8	113	0	30	2		0	0	0	0	0	2	1	9.348647e-01	5	120	0	30	2								-3.937916	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.510000	0.190000	1.000000	1.000000	0.549734	0.510000	0	3.200000e-01	7.900000e-01
ADCY5	111	broad.mit.edu	37	3	123008674	123008674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123008674G>A	ENST00000462833.1	-	19	4667	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A810V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5			60					GGCAAAGTCGGCCAGTGCCTT	0.552000																								0							SO:0001583	missense			ENST00000462833.1	1	1	hg19	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500461	0.96355	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.25579	1.79;1.79;1.79	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	L	0.39566	1.225	0.80722	D	1	P;D	0.89917	0.752;1.0	P;D	0.79108	0.531;0.992	T	0.04537	-1.0944	10	0.07644	T	0.81	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	1152;810	O95622;B3KWA8	ADCY5_HUMAN;.	V	1152;810;802	ENSP00000419361:A1152V;ENSP00000418537:A810V;ENSP00000308685:A802V	ENSP00000308685:A802V	A	-	2	0	ADCY5	124491364	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	9.650000	0.98490	2.662000	0.90505	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1	103	429	0	89	0	9.941680e-01	0	35	0	89	2		0	0	0	0	0	2	1	1	101	427	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY5	111	broad.mit.edu	37	3	123044174	123044174	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123044174G>A	ENST00000462833.1	-	8	3295	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R328W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5			60					CTCACCATCCGCTTCATCTCC	0.627000																								0							SO:0001583	missense			ENST00000462833.1	1	1	hg19	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930897	0.73327	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.23	3.23	0.37069	.	0.000000	0.64402	D	0.000001	D	0.82449	0.5039	L	0.55481	1.735	0.54753	D	0.999987	P;D	0.76494	0.797;0.999	B;P	0.61658	0.102;0.892	D	0.84288	0.0498	10	0.72032	D	0.01	.	12.8138	0.57654	0.0:0.0:0.6016:0.3984	.	695;328	O95622;B3KWA8	ADCY5_HUMAN;.	W	695;328;345;254	ENSP00000419361:R695W;ENSP00000418537:R328W;ENSP00000308685:R345W;ENSP00000420082:R254W	ENSP00000308685:R345W	R	-	1	2	ADCY5	124526864	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.795000	0.47861	1.377000	0.46286	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1	95	375	0	102	0	7.713797e-01	0	13	0	102	2		0	0	0	0	0	2	1	1	92	368	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY5	111	broad.mit.edu	37	3	123047580	123047580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123047580G>A	ENST00000462833.1	-	6	2928	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000491190.1_Silent_p.C205C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5			60					CAAGGACACCGCAGTGTACTC	0.592000											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000462833.1	1	1	hg19	CCDS3022.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1	80	354	0	105	0	9.988686e-01	0	47	0	105	2		0	0	0	0	0	2	1	1	77	347	0	103	2								-3.426336	1	1	121412	36	46	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY5	111	broad.mit.edu	37	3	123049816	123049816	+	Silent	SNP	G	G	A	rs148753023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123049816G>A	ENST00000462833.1	-	5	2778	c.1566C>T	c.(1564-1566)tgC>tgT	p.C522C	ADCY5_ENST00000309879.5_Silent_p.C172C|ADCY5_ENST00000491190.1_Silent_p.C155C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5			60					GCCCCGAGACGCAGTAATAAC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000462833.1	1	1	hg19	CCDS3022.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1	52	210	0	35	0	9.364573e-01	0	21	0	35	2		0	0	0	0	0	2	1	1	51	207	0	35	2								-3.619807	1	1	121412	21	44	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY5	111	broad.mit.edu	37	3	123051430	123051430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123051430C>T	ENST00000462833.1	-	4	2711	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R133H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5			60					CTTGTCAAAGCGGGCGAAGAG	0.632000																								0							SO:0001583	missense			ENST00000462833.1	1	1	hg19	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206509	0.95033	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.77	4.77	0.60923	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.92153	0.7512	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.94048	0.7315	10	0.87932	D	0	.	17.9877	0.89159	0.0:1.0:0.0:0.0	.	500;133	O95622;B3KWA8	ADCY5_HUMAN;.	H	500;133;150;59;59	ENSP00000419361:R500H;ENSP00000418537:R133H;ENSP00000308685:R150H;ENSP00000420082:R59H;ENSP00000420252:R59H	ENSP00000308685:R150H	R	-	2	0	ADCY5	124534120	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.651000	0.83577	2.485000	0.83878	0.484000	0.47621	CGC		TCGA-IB-7651-01A-11D-2154-08	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1	29	100	0	24	0	4.977134e-01	0	7	0	24	2		0	0	0	0	0	2	1	1	28	99	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPLB	201562	broad.mit.edu	37	3	123219521	123219521	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123219521G>T	ENST00000383657.5	-	6	680	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b			2					ATTGGGTACAGCACAATGAAA	0.418000																								0							SO:0001583	missense			ENST00000383657.5	1	1	hg19	CCDS46895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291939|3.291939	0.59976|0.59976	.|.	.|.	ENSG00000206527|ENSG00000206527	ENST00000493515|ENST00000383657;ENST00000469317	.|T;T	.|0.53423	.|0.62;0.62	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68760|0.68760	0.3036|0.3036	M|M	0.85041|0.85041	2.73|2.73	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.71674	.|0.998	.|D	.|0.73380	.|0.98	T|T	0.71603|0.71603	-0.4543|-0.4543	5|10	.|0.66056	.|D	.|0.02	-7.5737|-7.5737	10.5981|10.5981	0.45349|0.45349	0.2203:0.0:0.7797:0.0|0.2203:0.0:0.7797:0.0	.|.	.|175	.|Q6Y1H2	.|HACD2_HUMAN	D|M	7|175;64	.|ENSP00000373153:L175M;ENSP00000419237:L64M	.|ENSP00000373153:L175M	A|L	-|-	2|1	0|2	PTPLB|PTPLB	124702211|124702211	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	4.086000|4.086000	0.57664|0.57664	0.847000|0.847000	0.35167|0.35167	-0.140000|-0.140000	0.14226|0.14226	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3	1	0	1	25	155	0	46	1	9.999991e-01	51	98	0	46	2		0	0	0	0	0	2	1	9.999999e-01	25	152	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999476	0.990000	1	9.900000e-01	1
MYLK	4638	broad.mit.edu	37	3	123337592	123337592	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123337592C>T	ENST00000475616.1	-	30	5393	c.5394G>A	c.(5392-5394)gaG>gaA	p.E1798E	MYLK_ENST00000354792.5_Silent_p.E598E|MYLK_ENST00000360772.3_Silent_p.E1747E|MYLK_ENST00000359169.1_Silent_p.E1747E|MYLK_ENST00000418370.2_Silent_p.E38E|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_Silent_p.E37E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Silent_p.E1798E			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			CAGCAACAGCCTCAAGGAAAG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000475616.1	1	1	hg19	CCDS46896.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	0	75	347	0	98	0	1	0	347	0	98	2		0	0	0	0	0	2	1	1	74	340	0	98	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK	4638	broad.mit.edu	37	3	123339123	123339123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123339123G>T	ENST00000475616.1	-	29	5298	c.5299C>A	c.(5299-5301)Ctc>Atc	p.L1767I	MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK_ENST00000360772.3_Missense_Mutation_p.L1716I|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			CTGCCACTGAGCCCTGAGATC	0.517000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629067	0.46944	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.67345	-0.19;-0.26;-0.19;0.16;-0.25;-0.02;-0.26	5.24	5.24	0.73138	Protein kinase-like domain (1);	.	.	.	.	T	0.50429	0.1615	N	0.12182	0.205	0.33631	D	0.60607	B;P;B;P;B;B	0.43578	0.295;0.811;0.259;0.68;0.195;0.012	B;B;B;B;B;B	0.40534	0.132;0.332;0.099;0.21;0.062;0.002	T	0.62348	-0.6873	9	0.36615	T	0.2	.	14.8475	0.70270	0.0:0.0:0.8475:0.1524	.	1767;1647;1716;1698;1767;80	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	I	1716;1767;1716;7;1698;567;1767	ENSP00000354004:L1716I;ENSP00000353452:L1767I;ENSP00000352088:L1716I;ENSP00000428967:L7I;ENSP00000320622:L1698I;ENSP00000346846:L567I;ENSP00000418335:L1767I	ENSP00000320622:L1698I	L	-	1	0	MYLK	124821813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.449000	0.52950	2.720000	0.93068	0.557000	0.71058	CTC		TCGA-IB-7651-01A-11D-2154-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	202	924	0	219	1	1	4	426	0	219	2		0	0	0	0	0	2	1	1	196	893	0	216	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK	4638	broad.mit.edu	37	3	123348342	123348342	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123348342T>G	ENST00000475616.1	-	27	5092	c.5093A>C	c.(5092-5094)aAt>aCt	p.N1698T	MYLK_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.N1698T			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			CTTCAGCAGATTGCTGATGAA	0.493000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800906	0.50315	.	.	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.65	-3.02	0.05446	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.60235	0.2253	N	0.13043	0.29	0.24979	N	0.991617	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.962;0.938;0.969	T	0.59579	-0.7428	9	0.44086	T	0.13	.	13.1719	0.59604	0.0:0.542:0.0:0.458	.	1698;1629;1698	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	T	1698;1629;498;1698	ENSP00000353452:N1698T;ENSP00000320622:N1629T;ENSP00000346846:N498T;ENSP00000418335:N1698T	ENSP00000320622:N1629T	N	-	2	0	MYLK	124831032	0.841000	0.29509	0.016000	0.15963	0.503000	0.33858	0.656000	0.24948	-0.692000	0.05128	-0.904000	0.02843	AAT		TCGA-IB-7651-01A-11D-2154-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	69	281	0	60	1	1	9	290	0	60	2		0	0	0	0	0	2	1	1	69	278	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK	4638	broad.mit.edu	37	3	123367851	123367851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123367851G>A	ENST00000475616.1	-	23	4381	c.4382C>T	c.(4381-4383)tCt>tTt	p.S1461F	MYLK_ENST00000354792.5_Missense_Mutation_p.S261F|MYLK_ENST00000360772.3_Missense_Mutation_p.S1461F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			GTAGAAGTCAGATACTTTTTG	0.512000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506591	0.64410	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	4.82	4.82	0.62117	Protein kinase-like domain (1);	.	.	.	.	T	0.32406	0.0828	N	0.14661	0.345	0.36762	D	0.883317	P;D;P;P;P	0.53885	0.828;0.963;0.895;0.936;0.736	P;P;P;P;B	0.46940	0.532;0.528;0.532;0.528;0.332	T	0.17561	-1.0365	9	0.12766	T	0.61	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1461;1392;1461;1392;1461	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	F	1461;1461;1461;1392;261;1461	ENSP00000354004:S1461F;ENSP00000353452:S1461F;ENSP00000352088:S1461F;ENSP00000320622:S1392F;ENSP00000346846:S261F;ENSP00000418335:S1461F	ENSP00000320622:S1392F	S	-	2	0	MYLK	124850541	0.994000	0.37717	0.999000	0.59377	0.908000	0.53690	4.640000	0.61368	2.370000	0.80446	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	0	1	113	486	0	123	0	1	1	391	0	123	2		0	0	0	0	0	2	1	1	109	482	0	123	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK	4638	broad.mit.edu	37	3	123411611	123411611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123411611G>A	ENST00000475616.1	-	16	3535	c.3536C>T	c.(3535-3537)gCg>gTg	p.A1179V	MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.A1179V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			GGAGCACTCCGCCTGGCCAGC	0.602000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	40	0.018315018315018316	14	0.028455284552845527	1	0.0027624309392265192	11	0.019230769230769232	14	0.018469656992084433	G	32	5.185768	0.94885	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51635	0.1686	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.991;0.992;0.997;0.997;0.996	P;P;P;P;D;D	0.65874	0.857;0.639;0.704;0.857;0.939;0.932	T	0.62886	-0.6759	9	0.07813	T	0.8	.	15.8618	0.79032	0.0:0.0:1.0:0.0	.	1179;257;1110;1179;1110;1179	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	V	1179;1179;1179;1110;1179	ENSP00000354004:A1179V;ENSP00000353452:A1179V;ENSP00000352088:A1179V;ENSP00000320622:A1110V;ENSP00000418335:A1179V	ENSP00000320622:A1110V	A	-	2	0	MYLK	124894301	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	6.439000	0.73430	2.514000	0.84764	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	65	282	0	60	0	1	1	257	0	60	2		0	0	0	0	0	2	1	1	65	278	1	60	19								-20.000000	1	1	121412	2	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK	4638	broad.mit.edu	37	3	123427586	123427586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123427586C>T	ENST00000475616.1	-	12	2098	c.2099G>A	c.(2098-2100)aGc>aAc	p.S700N	MYLK_ENST00000360772.3_Missense_Mutation_p.S700N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N|MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000360304.3_Missense_Mutation_p.S700N			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			CTCTCCAGCGCTGTTCCAGGC	0.602000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865819	0.71949	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	4.46	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65984	0.2744	M	0.69463	2.115	0.80722	D	1	P;P;P;P;P	0.50443	0.734;0.806;0.837;0.935;0.775	B;B;B;P;P	0.46825	0.373;0.425;0.373;0.528;0.507	T	0.65533	-0.6145	9	0.36615	T	0.2	.	8.9041	0.35512	0.0:0.8614:0.0:0.1386	.	700;631;700;631;700	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	700;700;700;631;700	ENSP00000354004:S700N;ENSP00000353452:S700N;ENSP00000352088:S700N;ENSP00000320622:S631N;ENSP00000418335:S700N	ENSP00000320622:S631N	S	-	2	0	MYLK	124910276	1.000000	0.71417	0.952000	0.39060	0.957000	0.61999	4.971000	0.63749	2.453000	0.82957	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	70	335	0	91	1	8.617135e-01	2	17	0	91	2		0	0	0	0	0	2	1	1	69	330	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK	4638	broad.mit.edu	37	3	123440981	123440981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123440981C>T	ENST00000475616.1	-	10	1797	c.1798G>A	c.(1798-1800)Gtc>Atc	p.V600I	MYLK_ENST00000360772.3_Missense_Mutation_p.V600I|MYLK_ENST00000359169.1_Missense_Mutation_p.V600I|MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000360304.3_Missense_Mutation_p.V600I			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			CTACCATGGACGGTGACCCAG	0.582000																								0							SO:0001583	missense			ENST00000475616.1	0	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	8.070	0.770011	0.15983	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.53	2.83	0.33086	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83972	0.5370	M	0.83118	2.625	0.44485	D	0.997425	B;D;D;B;B	0.76494	0.204;0.999;0.994;0.432;0.243	B;D;P;B;B	0.79784	0.049;0.993;0.685;0.1;0.081	T	0.80509	-0.1351	9	0.25751	T	0.34	.	10.3436	0.43893	0.0:0.7826:0.0:0.2174	.	600;531;600;531;600	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	600;600;600;531;600	ENSP00000354004:V600I;ENSP00000353452:V600I;ENSP00000352088:V600I;ENSP00000320622:V531I;ENSP00000418335:V600I	ENSP00000320622:V531I	V	-	1	0	MYLK	124923671	0.937000	0.31787	0.064000	0.19789	0.143000	0.21401	1.837000	0.39201	0.324000	0.23333	-0.995000	0.02519	GTC		TCGA-IB-7651-01A-11D-2154-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	0	0	4	28	0	9	0	5.874047e-01	1	13	0	9	2		0	0	0	0	0	2	1	8.870950e-01	4	27	0	9	2								-10.136150	1	1	118192	2	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.510000	1.000000	1.000000	0.945908	0.990000	1	8.800000e-01	1
MYLK	4638	broad.mit.edu	37	3	123452821	123452821	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123452821G>T	ENST00000475616.1	-	7	1021	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	MYLK_ENST00000360772.3_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N|MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000360304.3_Missense_Mutation_p.T341N			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			GGAGCTGGAAGTCTTCTGAAG	0.622000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322766	0.41096	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.26;-0.2;-0.26;-0.3;-0.2	5.43	4.55	0.56014	.	.	.	.	.	T	0.60340	0.2261	L	0.29908	0.895	0.80722	D	1	P;B;P;B;P	0.48407	0.91;0.288;0.91;0.288;0.855	P;B;P;B;P	0.50791	0.65;0.22;0.65;0.22;0.448	T	0.54866	-0.8229	9	0.16896	T	0.51	.	11.3941	0.49832	0.0844:0.0:0.9156:0.0	.	341;341;341;341;341	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	341	ENSP00000354004:T341N;ENSP00000353452:T341N;ENSP00000352088:T341N;ENSP00000320622:T341N;ENSP00000418335:T341N	ENSP00000320622:T341N	T	-	2	0	MYLK	124935511	1.000000	0.71417	0.996000	0.52242	0.137000	0.21094	3.146000	0.50631	1.520000	0.48965	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	0	51	621	0	110	0	5.794822e-01	0	25	0	110	2		0	0	0	0	0	2	1	1	51	609	0	110	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.900000	0.680000	1.000000	1.000000	0.896489	0.900000	1	7.800000e-01	1
CCDC14	64770	broad.mit.edu	37	3	123665936	123665936	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123665936T>C	ENST00000488653.2	-	8	1149	c.1059A>G	c.(1057-1059)acA>acG	p.T353T	CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000433542.2_Silent_p.T312T|CCDC14_ENST00000485727.1_Silent_p.T153T|CCDC14_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14			21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)			GAGACAAATATGTTTGAATAC	0.413000																								0							SO:0001819	synonymous_variant			ENST00000488653.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	96	511	0	135	1	9.652498e-01	4	27	0	135	2		0	0	0	0	0	2	1	1	94	496	0	134	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROPN1	54763	broad.mit.edu	37	3	123699239	123699239	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123699239C>T	ENST00000184183.4	-	3	430	c.90G>A	c.(88-90)ccG>ccA	p.P30P	ROPN1_ENST00000484329.1_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000479867.1_Silent_p.P30P|ROPN1_ENST00000495093.1_Silent_p.P30P|ROPN1_ENST00000405845.3_Silent_p.P30P	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1			4					TGAGGTCCTGCGGCTGCACCC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000184183.4	1	1	hg19	CCDS3026.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	0	0	0	11	435	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	9.980855e-01	11	422	0	81	2								-3.115955	1	1	121412	2	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.300000	0.150000	1.000000	0.290000	0.351921	0.300000	0	2.200000e-01	4.300000e-01
KALRN	8997	broad.mit.edu	37	3	124053224	124053224	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124053224T>C	ENST00000240874.3	+	9	1680	c.1523T>C	c.(1522-1524)cTg>cCg	p.L508P	KALRN_ENST00000460856.1_Missense_Mutation_p.L508P|KALRN_ENST00000360013.3_Missense_Mutation_p.L508P	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					CACCAGGTGCTGGACGTGGTG	0.627000																								0							SO:0001583	missense			ENST00000240874.3	1	1	hg19	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.102396|4.102396	0.76983|0.76983	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.62105|.	0.05;0.05;0.05|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.74574|0.74574	0.3734|0.3734	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.81914|.	0.961;0.995;0.983|.	T|T	0.75693|0.75693	-0.3229|-0.3229	10|5	0.48119|.	T|.	0.1|.	.|.	15.1227|15.1227	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	508;508;508|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	P|R	508|486	ENSP00000418611:L508P;ENSP00000240874:L508P;ENSP00000353109:L508P|.	ENSP00000240874:L508P|.	L|W	+|+	2|1	0|0	KALRN|KALRN	125535914|125535914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.719000|0.719000	0.41307|0.41307	7.825000|7.825000	0.86693|0.86693	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	CTG|TGG		TCGA-IB-7651-01A-11D-2154-08	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	1	0	1	100	517	0	95	0	5.000283e-01	1	8	0	95	2	1	1	203	957	0	1103	2	1	1	101	509	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KALRN	8997	broad.mit.edu	37	3	124117671	124117671	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124117671C>A	ENST00000240874.3	+	13	2450	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M	KALRN_ENST00000460856.1_Missense_Mutation_p.L765M|KALRN_ENST00000360013.3_Missense_Mutation_p.L765M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					GAAGATCAAGCTGGACATCTT	0.597000																								0							SO:0001583	missense			ENST00000240874.3	1	1	hg19	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.038179|5.038179	0.93630|0.93630	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	D;D;D|.	0.89681|.	-2.55;-2.55;-2.55|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.73877|0.73877	0.3643|0.3643	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.989;0.994;1.0|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|5	0.48119|.	T|.	0.1|.	.|.	19.1727|19.1727	0.93585|0.93585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	765;111;765;765|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	M|R	765|742	ENSP00000418611:L765M;ENSP00000240874:L765M;ENSP00000353109:L765M|.	ENSP00000240874:L765M|.	L|S	+|+	1|3	2|2	KALRN|KALRN	125600361|125600361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.651000|7.651000	0.83577|0.83577	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CTG|AGC		TCGA-IB-7651-01A-11D-2154-08	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	1	0	1	76	326	0	89	0	8.780995e-01	0	18	0	89	2	1	1	195	969	0	1183	2	1	1	74	315	0	88	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KALRN	8997	broad.mit.edu	37	3	124149506	124149506	+	Silent	SNP	C	C	T	rs138919966	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124149506C>T	ENST00000240874.3	+	16	2864	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L	KALRN_ENST00000460856.1_Silent_p.L903L|KALRN_ENST00000360013.3_Silent_p.L903L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					TCCCTAGGTTCTGGGATGGAT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000240874.3	1	1	hg19	CCDS3027.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	1	0	0	25	223	0	41	0	2.400948e-01	1	8	0	41	2	1	1	80	558	0	522	2	1	9.999999e-01	25	220	0	41	2								-3.318794	1	1	121412	72	49	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.982942	0.990000	1	9.800000e-01	1
KALRN	8997	broad.mit.edu	37	3	124211723	124211723	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124211723G>T	ENST00000240874.3	+	32	4977	c.4820G>T	c.(4819-4821)aGt>aTt	p.S1607I	KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I|KALRN_ENST00000360013.3_Missense_Mutation_p.S1607I	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					AGGAACAATAGTAAGAGGTAA	0.507000																								0							SO:0001583	missense			ENST00000240874.3	1	1	hg19	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.680189|2.680189	0.47886|0.47886	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.22945|.	1.93;1.93;1.93|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Pleckstrin homology-type (1);|.	0.049843|.	0.85682|.	D|.	0.000000|.	T|T	0.59142|0.59142	0.2172|0.2172	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;P|.	0.46512|.	0.042;0.421;0.879|.	B;B;B|.	0.43103|.	0.016;0.079;0.408|.	T|T	0.50857|0.50857	-0.8778|-0.8778	10|5	0.49607|.	T|.	0.09|.	.|.	19.6941|19.6941	0.96016|0.96016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1598;1607;1607|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	I|L	1598;1607;1607|1576	ENSP00000418611:S1598I;ENSP00000240874:S1607I;ENSP00000353109:S1607I|.	ENSP00000240874:S1607I|.	S|V	+|+	2|1	0|0	KALRN|KALRN	125694413|125694413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.087000|5.087000	0.64480|0.64480	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	AGT|GTA		TCGA-IB-7651-01A-11D-2154-08	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	1	0	1	69	256	0	68	0	9.311675e-01	0	19	0	68	2	1	1	68	230	0	252	2	1	1	68	249	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KALRN	8997	broad.mit.edu	37	3	124281736	124281736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124281736C>T	ENST00000393496.1	+	2	259	c.95C>T	c.(94-96)gCg>gTg	p.A32V	KALRN_ENST00000360013.3_Missense_Mutation_p.A1659V			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					GACTTCAGTGCGGGCCACAGC	0.637000																								0							SO:0001583	missense			ENST00000393496.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.399885|3.399885	0.62177|0.62177	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496|ENST00000354186	T;T|.	0.73047|.	-0.71;0.29|.	4.84|4.84	3.95|3.95	0.45737|0.45737	Src homology-3 domain (3);|.	0.316165|.	0.28317|.	N|.	0.015790|.	T|T	0.70395|0.70395	0.3219|0.3219	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.969|.	D;B|.	0.66716|.	0.946;0.413|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.87932|.	D|.	0|.	.|.	15.1527|15.1527	0.72713|0.72713	0.0:0.8582:0.1418:0.0|0.0:0.8582:0.1418:0.0	.|.	32;1659|.	O60229-5;O60229|.	.;KALRN_HUMAN|.	V|W	1659;32|1628	ENSP00000353109:A1659V;ENSP00000377134:A32V|.	ENSP00000353109:A1659V|.	A|R	+|+	2|1	0|2	KALRN|KALRN	125764426|125764426	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.212000|0.212000	0.24457|0.24457	7.606000|7.606000	0.82863|0.82863	1.236000|1.236000	0.43740|0.43740	0.563000|0.563000	0.77884|0.77884	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	KALRN-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000258840.2	1	0	1	33	131	0	28	0	6.831350e-01	1	10	0	28	2	1	1	239	1004	3	1238	9	1	1	31	129	0	27	2								-3.361097	1	1	120986	3	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KALRN	8997	broad.mit.edu	37	3	124380766	124380766	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124380766G>A	ENST00000291478.5	+	12	1405	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	KALRN_ENST00000459915.1_Silent_p.Q203Q|KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000360013.3_Silent_p.Q2111Q|KALRN_ENST00000393496.1_Silent_p.Q452Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					GACGTCTGCAGGGCTTTGAGG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000291478.5	1	1	hg19	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	5.100	0.204068	0.09704	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.29	2.42	0.29668	.	.	.	.	.	T	0.61502	0.2352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55042	-0.8202	4	.	.	.	.	11.6186	0.51104	0.3065:0.0:0.6935:0.0	.	.	.	.	K	2080	.	.	R	+	2	0	KALRN	125863456	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	2.303000	0.43646	0.072000	0.16694	-1.945000	0.00491	AGG		TCGA-IB-7651-01A-11D-2154-08	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	1	0	0	94	467	0	107	1	9.984809e-01	13	37	0	107	2	1	1	193	830	1	1002	6	1	1	93	458	0	106	2								-2.853827	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KALRN	8997	broad.mit.edu	37	3	124413187	124413187	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413187G>T	ENST00000291478.5	+	20	2486	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.E2472*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					AGTGGCCCCAGAATTCCTTGT	0.458000																								0							SO:0001587	stop_gained			ENST00000291478.5	0	1	hg19	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.291176|9.291176	0.99127|0.99127	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76300	.|0.3968	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73366	.|-0.4005	.|3	0.07175|.	T|.	0.84|.	.|.	18.8398|18.8398	0.92177|0.92177	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	2472;775;743|2440	.|.	ENSP00000291478:E775X|.	E|Q	+|+	1|3	0|2	KALRN|KALRN	125895877|125895877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	8.739000|8.739000	0.91574|0.91574	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|CAG		TCGA-IB-7651-01A-11D-2154-08	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	0	0	0	12	524	0	104	0	5.935240e-03	0	5	0	104	2	1	9.988408e-01	8	503	0	495	2	1	9.990139e-01	12	513	0	104	2								-2.629855	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.270000	0.140000	1.000000	0.260000	0.323406	0.270000	0	2.000000e-01	3.800000e-01
KALRN	8997	broad.mit.edu	37	3	124413317	124413317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413317A>C	ENST00000291478.5	+	20	2616	c.2453A>C	c.(2452-2454)gAt>gCt	p.D818A	KALRN_ENST00000360013.3_Missense_Mutation_p.D2515A|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Missense_Mutation_p.D786A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					CTTGACACTGATAACAGCTCA	0.537000																								0							SO:0001583	missense			ENST00000291478.5	1	1	hg19	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.529633|4.529633	0.85706|0.85706	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.63255|.	-0.03;0.02;0.0|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.119778|.	0.56097|.	D|.	0.000030|.	T|T	0.46054|0.46054	0.1373|0.1373	N|N	0.16368|0.16368	0.405|0.405	0.34787|0.34787	D|D	0.735332|0.735332	B;B|.	0.25441|.	0.126;0.033|.	B;B|.	0.31946|.	0.138;0.042|.	T|T	0.55366|0.55366	-0.8152|-0.8152	10|5	0.54805|.	T|.	0.06|.	.|.	16.6406|16.6406	0.85098|0.85098	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	818;2514|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	A|L	2515;818;786|2484	ENSP00000353109:D2515A;ENSP00000291478:D818A;ENSP00000402419:D786A|.	ENSP00000291478:D818A|.	D|I	+|+	2|1	0|0	KALRN|KALRN	125896007|125896007	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.968000|0.968000	0.65278|0.65278	4.526000|4.526000	0.60566|0.60566	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATA		TCGA-IB-7651-01A-11D-2154-08	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	1	0	1	71	385	0	97	0	1.197992e-01	0	4	0	97	2	1	1	105	499	0	599	2	1	1	71	380	0	96	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UMPS	7372	broad.mit.edu	37	3	124454055	124454055	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124454055T>C	ENST00000232607.2	+	2	378	c.272T>C	c.(271-273)aTt>aCt	p.I91T	UMPS_ENST00000538242.1_Intron|UMPS_ENST00000413078.2_Intron|MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000536109.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase			16				Fluorouracil(DB00544)	ACCAATCAAATTCCAATGCTT	0.348000																								0							SO:0001583	missense			ENST00000232607.2	1	1	hg19	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121934	0.56613	.	.	ENSG00000114491	ENST00000232607	T	0.72725	-0.68	5.22	5.22	0.72569	Phosphoribosyltransferase (1);	0.350832	0.30260	N	0.010038	T	0.62221	0.2410	L	0.35854	1.095	0.80722	D	1	B	0.24186	0.099	B	0.25405	0.06	T	0.58301	-0.7660	10	0.29301	T	0.29	-22.7445	15.253	0.73561	0.0:0.0:0.0:1.0	.	91	P11172	UMPS_HUMAN	T	91	ENSP00000232607:I91T	ENSP00000232607:I91T	I	+	2	0	UMPS	125936745	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.114000	0.64648	2.178000	0.69098	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	1	0	1	26	146	0	40	1	9.998917e-01	25	60	0	40	2		0	0	0	0	0	2	1	9.999999e-01	26	143	0	39	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999855	0.990000	1	9.900000e-01	1
UMPS	7372	broad.mit.edu	37	3	124456949	124456949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124456949C>T	ENST00000232607.2	+	3	951	c.845C>T	c.(844-846)aCt>aTt	p.T282I	UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000413078.2_Missense_Mutation_p.T104I|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.T190I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase			16				Fluorouracil(DB00544)	ATGCTGAAGACTCATGTAGAT	0.413000																								0							SO:0001583	missense			ENST00000232607.2	1	1	hg19	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651757	0.67472	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.33	3.56	0.40772	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.049005	0.85682	N	0.000000	T	0.73984	0.3657	M	0.66560	2.04	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.946;0.87	D;D;D	0.77004	0.989;0.925;0.919	T	0.73487	-0.3967	10	0.52906	T	0.07	-13.1542	10.057	0.42250	0.0:0.8464:0.0:0.1536	.	104;104;282	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	I	282;190;104;104	ENSP00000232607:T282I;ENSP00000443577:T190I;ENSP00000444988:T104I;ENSP00000397965:T104I	ENSP00000232607:T282I	T	+	2	0	UMPS	125939639	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.322000	0.65852	0.836000	0.34901	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	1	0	1	73	403	0	90	1	9.999940e-01	30	67	0	90	2		0	0	0	0	0	2	1	1	72	392	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB5	3693	broad.mit.edu	37	3	124527965	124527965	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124527965C>A	ENST00000296181.4	-	9	1463	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5			30					GATCCTCAGGCTGATCCCAGA	0.483000																								0							SO:0001583	missense			ENST00000296181.4	1	1	hg19	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870481|1.870481	0.33069|0.33069	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000496703|ENST00000296181	.|T	.|0.63255	.|-0.03	5.63|5.63	3.7|3.7	0.42460|0.42460	.|Integrin beta subunit, N-terminal (2);	.|0.444750	.|0.23612	.|N	.|0.046324	T|T	0.37919|0.37919	0.1021|0.1021	N|N	0.08118|0.08118	0|0	0.38473|0.38473	D|D	0.947511|0.947511	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.39692	.|T	.|0.17	.|.	8.5238|8.5238	0.33293|0.33293	0.1398:0.5011:0.3591:0.0|0.1398:0.5011:0.3591:0.0	.|.	.|389	.|P18084	.|ITB5_HUMAN	S|H	156|389	.|ENSP00000296181:Q389H	.|ENSP00000296181:Q389H	A|Q	-|-	1|3	0|2	ITGB5|ITGB5	126010655|126010655	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.138000|0.138000	0.16016|0.16016	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCC|CAG		TCGA-IB-7651-01A-11D-2154-08	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	1	0	1	91	411	0	119	1	1	148	792	0	119	2		0	0	0	0	0	2	1	1	86	405	0	119	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB5	3693	broad.mit.edu	37	3	124536539	124536539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124536539G>A	ENST00000296181.4	-	8	1353	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5			30					GTTGTTCCAGGTATCAGGGCT	0.383000																								0							SO:0001583	missense			ENST00000296181.4	1	1	hg19	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967283	0.92855	.	.	ENSG00000082781	ENST00000296181	D	0.97598	-4.45	5.91	5.91	0.95273	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.057286	0.64402	D	0.000001	D	0.98353	0.9453	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98908	1.0779	10	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	353	P18084	ITB5_HUMAN	S	353	ENSP00000296181:P353S	ENSP00000296181:P353S	P	-	1	0	ITGB5	126019229	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.693000	0.98684	2.813000	0.96785	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	1	0	1	40	211	0	41	1	1	131	855	0	41	2		0	0	0	0	0	2	1	1	36	207	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ITGB5	3693	broad.mit.edu	37	3	124578178	124578178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124578178C>A	ENST00000296181.4	-	3	568	c.272G>T	c.(271-273)aGc>aTc	p.S91I		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5			30					GAGGGGCAGGCTCCTCAGGAC	0.597000																								0							SO:0001583	missense			ENST00000296181.4	1	1	hg19	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881265	0.51801	.	.	ENSG00000082781	ENST00000296181	D	0.92752	-3.1	5.26	2.26	0.28386	Integrin beta subunit, N-terminal (2);	0.194739	0.56097	D	0.000035	D	0.90584	0.7048	L	0.55990	1.75	0.36569	D	0.872868	P	0.48016	0.904	P	0.51266	0.664	D	0.89985	0.4103	10	0.87932	D	0	.	5.305	0.15799	0.0:0.4619:0.0:0.5381	.	91	P18084	ITB5_HUMAN	I	91	ENSP00000296181:S91I	ENSP00000296181:S91I	S	-	2	0	ITGB5	126060868	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	0.793000	0.26944	0.776000	0.33473	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	1	0	1	82	330	0	67	1	1	144	590	0	67	2		0	0	0	0	0	2	1	1	82	326	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPARG	5468	broad.mit.edu	37	3	12458305	12458305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12458305C>T	ENST00000287820.6	+	6	1043	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397010.2_Missense_Mutation_p.R280C|PPARG_ENST00000309576.6_Missense_Mutation_p.R280C|PPARG_ENST00000397026.2_Missense_Mutation_p.R286C	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma		PAX8/PPARG(117)	20				Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	GGTGGCCATCCGCATCTTTCA	0.463000			T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension								Dom	yes		3	3p25	5468	peroxisome proliferative activated receptor, gamma	yes	E	0							SO:0001583	missense			ENST00000287820.6	1	1	hg19	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615982	0.66672	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.13	6.13	0.99165	Nuclear hormone receptor, ligand-binding (2);	0.147023	0.64402	D	0.000006	T	0.74313	0.3700	M	0.74881	2.28	0.80722	D	1	B	0.23540	0.087	B	0.21360	0.034	T	0.70132	-0.4956	10	0.62326	D	0.03	.	20.8599	0.99761	0.0:1.0:0.0:0.0	.	308	P37231	PPARG_HUMAN	C	280;280;280;280;286;308	ENSP00000380205:R280C;ENSP00000312472:R280C;ENSP00000380210:R280C;ENSP00000380207:R280C;ENSP00000380221:R286C;ENSP00000287820:R308C	ENSP00000287820:R308C	R	+	1	0	PPARG	12433305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.684000	0.61686	2.937000	0.99478	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	1	0	0	13	272	0	60	1	8.913990e-01	4	80	0	60	2		0	0	0	0	0	2	1	9.995235e-01	13	268	0	59	2								-2.727234	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.560000	0.310000	1.000000	0.540000	0.591483	0.560000	0	4.200000e-01	7.500000e-01
HEG1	57493	broad.mit.edu	37	3	124739746	124739746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124739746G>A	ENST00000311127.4	-	4	1209	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1			47					GTTTCTTCTCGATTCCACTGC	0.473000																								0							SO:0001583	missense			ENST00000311127.4	1	1	hg19	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.128058	0.20959	2.6E-4	0.0	ENSG00000173706	ENST00000311127	T	0.42900	0.96	5.02	-1.67	0.08238	.	.	.	.	.	T	0.20414	0.0491	N	0.12746	0.255	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.06405	0.002;0.001	T	0.15521	-1.0434	9	0.34782	T	0.22	.	5.4471	0.16541	0.437:0.1444:0.4187:0.0	.	381;381	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	381	ENSP00000311502:S381L	ENSP00000311502:S381L	S	-	2	0	HEG1	126222436	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.359000	0.07632	-0.588000	0.05882	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	1	0	1	48	156	0	52	0	9.999925e-01	0	62	0	52	2		0	0	0	0	0	2	1	1	47	155	0	52	2								-4.331869	1	1	120872	4	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEG1	57493	broad.mit.edu	37	3	124746246	124746246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124746246G>A	ENST00000311127.4	-	3	783	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1			47					CAGCCCCATCGCCCTCTCTGT	0.537000																								0							SO:0001583	missense			ENST00000311127.4	1	1	hg19	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888195	0.17540	.	.	ENSG00000173706	ENST00000311127	T	0.42900	0.96	4.66	-7.15	0.01521	.	.	.	.	.	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15464	-1.0436	9	0.39692	T	0.17	.	3.2358	0.06763	0.1064:0.1681:0.4252:0.3003	.	239;239	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	V	239	ENSP00000311502:A239V	ENSP00000311502:A239V	A	-	2	0	HEG1	126228936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.919000	0.00334	-1.802000	0.01244	-2.159000	0.00328	GCG		TCGA-IB-7651-01A-11D-2154-08	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	1	0	1	26	193	0	42	0	9.996348e-01	0	95	0	42	2		0	0	0	0	0	2	1	9.999999e-01	26	189	0	42	2								-11.798690	1	1	120904	2	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.950000	1.000000	1.000000	0.996948	0.990000	1	9.900000e-01	1
HEG1	57493	broad.mit.edu	37	3	124748188	124748188	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124748188G>A	ENST00000311127.4	-	2	528	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1			47					TGGAGCATCCGAAGCAGCATG	0.483000																								0							SO:0001583	missense			ENST00000311127.4	1	1	hg19	CCDS46898.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.12	1.546652	0.27652	.	.	ENSG00000173706	ENST00000311127	T	0.51817	0.69	5.65	2.74	0.32292	.	.	.	.	.	T	0.30262	0.0759	N	0.20986	0.625	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.003	T	0.16958	-1.0385	9	0.27082	T	0.32	.	6.6872	0.23152	0.2865:0.0:0.7135:0.0	.	154;154	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	154	ENSP00000311502:S154L	ENSP00000311502:S154L	S	-	2	0	HEG1	126230878	0.088000	0.21588	0.065000	0.19835	0.001000	0.01503	0.541000	0.23207	0.963000	0.38082	-0.122000	0.15005	TCG		TCGA-IB-7651-01A-11D-2154-08	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	1	0	1	45	197	0	43	0	9.953125e-01	0	39	0	43	2		0	0	0	0	0	2	1	9.998991e-01	45	191	1	43	18								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL11	114885	broad.mit.edu	37	3	125266388	125266388	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125266388G>T	ENST00000296220.5	-	10	1992	c.1703C>A	c.(1702-1704)cCc>cAc	p.P568H		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11			27					ATATGCACAGGGTAGAGAAAA	0.418000																								0							SO:0001583	missense			ENST00000296220.5	1	1	hg19	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563636	0.86335	.	.	ENSG00000144909	ENST00000296220	T	0.45668	0.89	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82238	-0.0556	10	0.87932	D	0	-14.7118	18.1718	0.89747	0.0:0.0:1.0:0.0	.	568	Q9BXB4	OSB11_HUMAN	H	568	ENSP00000296220:P568H	ENSP00000296220:P568H	P	-	2	0	OSBPL11	126749078	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.318000	0.96334	2.524000	0.85096	0.467000	0.42956	CCC		TCGA-IB-7651-01A-11D-2154-08	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	1	0	1	67	321	0	75	1	9.997573e-01	15	46	0	75	2		0	0	0	0	0	2	1	1	66	321	0	75	2								-2.963812	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL11	114885	broad.mit.edu	37	3	125286413	125286413	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125286413T>C	ENST00000296220.5	-	6	982	c.693A>G	c.(691-693)caA>caG	p.Q231Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11			27					TTAAGTCTCTTTGTTGTCCTT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000296220.5	1	1	hg19	CCDS3033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	1	0	0	36	323	0	68	1	9.744871e-01	3	52	0	68	2		0	0	0	0	0	2	1	1	35	316	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.850000	1.000000	1.000000	0.989011	0.990000	1	9.900000e-01	1
TSEN2	80746	broad.mit.edu	37	3	12570396	12570396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12570396G>A	ENST00000284995.6	+	9	1496	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|TSEN2_ENST00000444864.1_Missense_Mutation_p.R344Q	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit			19					GTGCTATATCGGAAAGGCCCT	0.338000																								0							SO:0001583	missense			ENST00000284995.6	1	1	hg19	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038279	0.75617	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.57436	0.4;0.53;0.49;0.46;0.45;0.45;0.49;0.53	5.92	5.92	0.95590	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	0.060440	0.64402	D	0.000004	T	0.48429	0.1499	L	0.38649	1.16	0.80722	D	1	B;B;B;B	0.25850	0.136;0.022;0.072;0.052	B;B;B;B	0.29176	0.099;0.064;0.079;0.043	T	0.33163	-0.9879	10	0.36615	T	0.2	-23.2315	19.0928	0.93235	0.0:0.0:1.0:0.0	.	344;370;344;311	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	Q	370;344;311;353;370;370;344;343;344	ENSP00000406238:R370Q;ENSP00000323188:R344Q;ENSP00000392029:R311Q;ENSP00000373307:R353Q;ENSP00000385976:R370Q;ENSP00000284995:R370Q;ENSP00000407974:R344Q;ENSP00000416510:R344Q	ENSP00000284995:R370Q	R	+	2	0	TSEN2	12545396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.489000	0.73641	2.810000	0.96702	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	1	0	1	73	352	0	54	0	7.563538e-01	1	14	0	54	2		0	0	0	0	0	2	1	1	72	344	0	54	2								-3.052221	1	1	121412	2	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC41A3	54946	broad.mit.edu	37	3	125725380	125725380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725380G>T	ENST00000315891.6	-	12	1632	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3			18					TCTTGGCACAGCAGCAGTGTG	0.507000																								0							SO:0001583	missense			ENST00000315891.6	1	1	hg19	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842629	0.16963	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34667	1.35;1.35	3.69	-6.75	0.01738	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17653	-1.0362	9	0.49607	T	0.09	-16.7887	0.8389	0.01145	0.1802:0.2234:0.3116:0.2848	.	429;465	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	429;465	ENSP00000264471:A429D;ENSP00000326070:A465D	ENSP00000326070:A465D	A	-	2	0	SLC41A3	127208070	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.509000	0.06336	-1.735000	0.01353	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	1	0	1	34	160	0	51	1	9.999999e-01	31	98	0	51	2		0	0	0	0	0	2	1	1	34	159	0	51	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SLC41A3	54946	broad.mit.edu	37	3	125725383	125725383	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725383G>T	ENST00000315891.6	-	12	1629	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D	SLC41A3_ENST00000383598.2_3'UTR|SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3			18					TGGCACAGCAGCAGTGTGGCC	0.507000																								0							SO:0001583	missense			ENST00000315891.6	1	1	hg19	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489118	0.12641	.	.	ENSG00000114544	ENST00000346785;ENST00000315891	T;T	0.34472	1.36;1.36	3.69	-0.323	0.12709	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B;B	0.22414	0.069;0.041	B;B	0.18871	0.023;0.015	T	0.30238	-0.9985	9	0.05525	T	0.97	-3.3093	3.513	0.07714	0.2091:0.0:0.5062:0.2847	.	428;464	Q96GZ6-3;Q96GZ6	.;S41A3_HUMAN	D	428;464	ENSP00000264471:A428D;ENSP00000326070:A464D	ENSP00000326070:A464D	A	-	2	0	SLC41A3	127208073	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.395000	0.07287	-0.081000	0.12662	-0.948000	0.02665	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	1	0	1	37	154	0	50	1	1	45	89	0	50	2		0	0	0	0	0	2	1	1	37	153	0	50	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC41A3	54946	broad.mit.edu	37	3	125735601	125735601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125735601G>T	ENST00000315891.6	-	7	1101	c.863C>A	c.(862-864)cCa>cAa	p.P288Q	SLC41A3_ENST00000383598.2_Missense_Mutation_p.P262Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3			18					CAGGATGATTGGGAACCAGCC	0.607000																								0							SO:0001583	missense			ENST00000315891.6	1	1	hg19	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962747	0.92791	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	T	0.69942	-0.5008	10	0.72032	D	0.01	2.0573	16.9045	0.86123	0.0:0.0:1.0:0.0	.	171;288;288;252;288;262	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	Q	288;252;262;279;288;171	ENSP00000353533:P288Q;ENSP00000264471:P252Q;ENSP00000373092:P262Q;ENSP00000326070:P288Q;ENSP00000427409:P171Q	ENSP00000326070:P288Q	P	-	2	0	SLC41A3	127218291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.600000	0.90860	2.596000	0.87737	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	1	0	1	60	296	0	68	1	1	36	119	0	68	2		0	0	0	0	0	2	1	1	60	292	0	67	2								-2.953499	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH1L1	10840	broad.mit.edu	37	3	125824589	125824589	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125824589G>T	ENST00000393434.2	-	22	2982	c.2633C>A	c.(2632-2634)tCt>tAt	p.S878Y	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1			52				Tetrahydrofolic acid(DB00116)	GCCAAATCCAGACTGTTTGAA	0.493000																								0							SO:0001583	missense			ENST00000393434.2	1	1	hg19	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443470	0.83993	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	4.53	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.99937	4.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98922	1.0784	10	0.87932	D	0	.	14.7775	0.69740	0.0:0.0:1.0:0.0	.	777;413;878	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	Y	888;878;777;878	ENSP00000273450:S888Y;ENSP00000420293:S878Y;ENSP00000395881:S777Y;ENSP00000377083:S878Y	ENSP00000273450:S888Y	S	-	2	0	ALDH1L1	127307279	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.304000	0.96190	2.329000	0.79093	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	1	0	1	98	425	0	130	1	9.996033e-01	28	24	0	130	2		0	0	0	0	0	2	1	1	94	418	0	126	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH1L1	10840	broad.mit.edu	37	3	125833403	125833403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125833403C>A	ENST00000393434.2	-	18	2428	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q703H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1			52				Tetrahydrofolic acid(DB00116)	CCCTCACCATCTGCACAGCCT	0.597000																								0							SO:0001583	missense			ENST00000393434.2	1	1	hg19	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045867	0.36085	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	3.82	1.0	0.19881	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.212560	0.40554	N	0.001072	T	0.09949	0.0244	L	0.38531	1.155	0.80722	D	1	D;D;P	0.59767	0.973;0.986;0.707	P;P;P	0.54889	0.71;0.763;0.5	T	0.19257	-1.0311	10	0.72032	D	0.01	.	2.8212	0.05471	0.2024:0.4583:0.0:0.3393	.	592;228;693	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	H	703;693;592;693	ENSP00000273450:Q703H;ENSP00000420293:Q693H;ENSP00000395881:Q592H;ENSP00000377083:Q693H	ENSP00000273450:Q703H	Q	-	3	2	ALDH1L1	127316093	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	1.044000	0.30329	0.407000	0.25591	-0.339000	0.08088	CAG		TCGA-IB-7651-01A-11D-2154-08	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	1	0	1	74	318	0	74	1	9.993274e-01	19	30	0	74	2		0	0	0	0	0	2	1	1	74	311	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH1L1	10840	broad.mit.edu	37	3	125854451	125854451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125854451C>T	ENST00000393434.2	-	12	1748	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1			52				Tetrahydrofolic acid(DB00116)	TCCTTGGCTGCGGCCACTGCC	0.602000																								0							SO:0001583	missense			ENST00000393434.2	0	1	hg19	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882415	0.33255	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.16	3.29	0.37713	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.200686	0.40640	N	0.001053	D	0.82903	0.5138	M	0.88031	2.925	0.80722	D	1	P;P;B	0.52577	0.954;0.592;0.363	B;B;B	0.44085	0.44;0.244;0.1	D	0.84958	0.0875	10	0.72032	D	0.01	.	10.254	0.43385	0.0:0.9007:0.0:0.0993	.	366;519;467	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	T	477;467;366;467;467	ENSP00000273450:A477T;ENSP00000420293:A467T;ENSP00000395881:A366T;ENSP00000377083:A467T;ENSP00000377081:A467T	ENSP00000273450:A477T	A	-	1	0	ALDH1L1	127337141	0.998000	0.40836	0.351000	0.25721	0.004000	0.04260	3.988000	0.56951	1.125000	0.41998	-0.368000	0.07277	GCA		TCGA-IB-7651-01A-11D-2154-08	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	0	0	0	9	301	0	58	0	4.523380e-01	0	49	0	58	2		0	0	0	0	0	2	1	9.942286e-01	9	300	0	58	2								-9.223255	1	1	121398	4	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.360000	0.170000	1.000000	0.340000	0.408486	0.360000	0	2.500000e-01	5.200000e-01
ALDH1L1	10840	broad.mit.edu	37	3	125873462	125873462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125873462C>T	ENST00000393434.2	-	6	1004	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A229T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1			52				Tetrahydrofolic acid(DB00116)	TTGTGAATGGCCTCTGCCGGC	0.617000																								0							SO:0001583	missense			ENST00000393434.2	1	1	hg19	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185578	0.57909	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.77750	0.95;0.95;-1.12;0.95;0.95;0.95	4.64	3.76	0.43208	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.124005	0.52532	D	0.000065	T	0.68622	0.3021	L	0.51853	1.615	0.48452	D	0.999652	P;B;B;B;B	0.36959	0.575;0.345;0.037;0.401;0.037	B;B;B;B;B	0.33799	0.153;0.17;0.034;0.14;0.034	T	0.64521	-0.6388	10	0.22706	T	0.39	.	11.9136	0.52753	0.1752:0.8248:0.0:0.0	.	44;118;271;124;219	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	T	229;219;118;219;219;44	ENSP00000273450:A229T;ENSP00000420293:A219T;ENSP00000395881:A118T;ENSP00000377083:A219T;ENSP00000377081:A219T;ENSP00000414126:A44T	ENSP00000273450:A229T	A	-	1	0	ALDH1L1	127356152	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.263000	0.51546	1.148000	0.42385	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	1	0	1	86	355	0	87	1	9.990240e-01	24	21	0	87	2		0	0	0	0	0	2	1	1	85	349	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLF15	28999	broad.mit.edu	37	3	126062615	126062615	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126062615C>T	ENST00000296233.3	-	3	1436	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15			12					GGAAGCGGTGCACCTTGATGT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000296233.3	0	1	hg19	CCDS3036.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	1	0	0	13	271	0	24	0	4.282169e-01	0	30	0	24	2		0	0	0	0	0	2	1	9.994886e-01	13	264	0	24	2								-4.613925	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.560000	0.310000	1.000000	0.540000	0.593305	0.560000	0	4.200000e-01	7.600000e-01
MKRN2	23609	broad.mit.edu	37	3	12613662	12613662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12613662G>A	ENST00000170447.7	+	4	569	c.432G>A	c.(430-432)ccG>ccA	p.P144P	MKRN2_ENST00000448482.1_Silent_p.P142P|MKRN2_ENST00000411987.1_Silent_p.P101P	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2			16					AGATGAAGCCGCATTCCTACC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000170447.7	1	1	hg19	CCDS33702.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	1	0	1	54	247	0	66	1	1	42	136	0	66	2		0	0	0	0	0	2	1	1	54	244	0	64	2								-3.239131	1	1	121412	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC37	348807	broad.mit.edu	37	3	126138556	126138556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138556G>T	ENST00000352312.1	+	9	907	c.808G>T	c.(808-810)Gag>Tag	p.E270*	CCDC37_ENST00000393425.1_Nonsense_Mutation_p.E271*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37			23					GTCGCCCAAGGAGTGGCTTGA	0.493000																								0							SO:0001587	stop_gained			ENST00000352312.1	0	1	hg19	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	37	6.350566	0.97498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-30.7575	14.9376	0.70970	0.0:0.0:1.0:0.0	.	.	.	.	X	270;271;271	.	ENSP00000344749:E270X	E	+	1	0	CCDC37	127621246	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.465000	0.90383	2.379000	0.81126	0.467000	0.42956	GAG		TCGA-IB-7651-01A-11D-2154-08	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	0	0	0	15	436	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	9.998372e-01	14	421	0	103	2								-3.103184	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.400000	0.230000	1.000000	0.390000	0.446330	0.400000	0	3.100000e-01	5.400000e-01
CCDC37	348807	broad.mit.edu	37	3	126138953	126138953	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138953G>T	ENST00000352312.1	+	11	1062	c.963G>T	c.(961-963)caG>caT	p.Q321H	CCDC37_ENST00000393425.1_Missense_Mutation_p.Q322H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37			23					CAGAGGGTCAGGGTACAAAGA	0.642000																								0							SO:0001583	missense			ENST00000352312.1	1	1	hg19	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562646	0.13498	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32753	1.44;1.44;1.44	3.37	-2.18	0.07037	.	1.302360	0.05056	N	0.479042	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	1	B;B	0.32425	0.371;0.254	B;B	0.24701	0.055;0.025	T	0.16867	-1.0388	10	0.46703	T	0.11	-3.6099	3.9837	0.09506	0.3427:0.3519:0.3054:0.0	.	322;321	Q494V2-2;Q494V2	.;CCD37_HUMAN	H	321;322;322	ENSP00000344749:Q321H;ENSP00000377076:Q322H;ENSP00000423046:Q322H	ENSP00000344749:Q321H	Q	+	3	2	CCDC37	127621643	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.407000	0.07178	-0.500000	0.06614	0.491000	0.48974	CAG		TCGA-IB-7651-01A-11D-2154-08	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	1	0	1	40	141	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	40	140	0	27	2								-3.973710	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC37	348807	broad.mit.edu	37	3	126154401	126154401	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126154401G>T	ENST00000352312.1	+	16	1727		c.e16-1		CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000393425.1_Splice_Site|CCDC37_ENST00000505024.1_Splice_Site	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37			23					TTGCCACCCAGACTTCGAGAA	0.572000																								0							SO:0001630	splice_region_variant			ENST00000352312.1	1	1	hg19	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900877	0.33535	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8516	0.70300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC37	127637091	1.000000	0.71417	0.930000	0.37139	0.256000	0.26092	6.572000	0.74005	2.162000	0.67917	0.491000	0.48974	.		TCGA-IB-7651-01A-11D-2154-08	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	1	0	1	34	141	0	35	1	3.999238e-02	2	0	0	35	2		0	0	0	0	0	2	1	1	34	138	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKRN2	23609	broad.mit.edu	37	3	12616471	12616471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12616471C>T	ENST00000170447.7	+	5	960	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W|MKRN2_ENST00000411987.1_Missense_Mutation_p.R232W	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2			16					CCGGCAGTGGCGGTGTGCCAA	0.473000																								0							SO:0001583	missense			ENST00000170447.7	1	1	hg19	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458241	0.84317	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.67865	-0.29;0.97;-0.29	5.91	-3.06	0.05379	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81134	-0.1071	10	0.87932	D	0	-6.668	22.9923	0.99978	0.1948:0.8052:0.0:0.0	.	232;273;275	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	W	275;232;273	ENSP00000170447:R275W;ENSP00000396340:R232W;ENSP00000397983:R273W	ENSP00000170447:R275W	R	+	1	2	MKRN2	12591471	0.989000	0.36119	0.986000	0.45419	0.996000	0.88848	0.385000	0.20685	-0.390000	0.07774	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	1	0	1	45	215	1	57	1	9.993969e-01	42	115	1	57	11		0	0	0	0	0	2	1	9.999765e-01	43	212	1	55	16								-2.949808	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZXDC	79364	broad.mit.edu	37	3	126185060	126185060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126185060C>T	ENST00000389709.3	-	5	1432	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C			17					GGTGAAGAGTCTGTTGCAGGT	0.577000																								0							SO:0001583	missense			ENST00000389709.3	1	1	hg19	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607080	0.28623	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.35789	1.29;1.29	5.23	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056668	0.64402	D	0.000003	T	0.15392	0.0371	N	0.13043	0.29	0.28752	N	0.90137	B;B	0.20368	0.035;0.044	B;B	0.20577	0.017;0.03	T	0.33292	-0.9874	10	0.02654	T	1	-20.3099	5.432	0.16458	0.0:0.7589:0.0:0.2411	.	460;460	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	K	460	ENSP00000374359:R460K;ENSP00000337694:R460K	ENSP00000337694:R460K	R	-	2	0	ZXDC	127667750	1.000000	0.71417	0.716000	0.30569	0.648000	0.38561	5.981000	0.70524	2.593000	0.87608	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	1	0	0	16	328	0	69	1	8.539981e-01	2	70	0	69	2		0	0	0	0	0	2	1	9.999250e-01	16	320	0	69	2								-3.333463	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.560000	0.330000	1.000000	0.540000	0.597102	0.560000	0	4.300000e-01	7.400000e-01
UROC1	131669	broad.mit.edu	37	3	126208217	126208217	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126208217G>A	ENST00000290868.2	-	17	1663	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	UROC1_ENST00000383579.3_Splice_Site_p.A597V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1			39					GACCACCGGCGCCTGTGCATG	0.592000																								0							SO:0001630	splice_region_variant			ENST00000290868.2	1	0	hg19	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902816	0.72754	4.54E-4	0.0	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.55930	0.49;0.49	4.59	4.59	0.56863	Urocanase domain (2);	0.052993	0.85682	D	0.000000	T	0.77096	0.4080	H	0.94462	3.54	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.66979	0.867;0.948	T	0.82884	-0.0236	10	0.87932	D	0	-21.838	11.2004	0.48739	0.0:0.1864:0.8136:0.0	.	597;537	E9PE13;Q96N76	.;HUTU_HUMAN	V	537;597	ENSP00000290868:A537V;ENSP00000373073:A597V	ENSP00000290868:A537V	A	-	2	0	UROC1	127690907	1.000000	0.71417	0.962000	0.40283	0.717000	0.41224	6.627000	0.74258	2.247000	0.74100	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	1	0	1	68	347	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	9.999988e-01	68	343	2	70	26								-20.000000	1	1	121412	5	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UROC1	131669	broad.mit.edu	37	3	126211352	126211352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126211352C>T	ENST00000290868.2	-	16	1570	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1			39					TGCCTGGGAGCCCACCACCTG	0.602000																								0							SO:0001583	missense			ENST00000290868.2	1	1	hg19	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593557	0.86953	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.72725	-0.68;-0.68	4.79	4.79	0.61399	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	H	0.97918	4.105	0.80722	D	1	D;D	0.56035	0.965;0.974	P;D	0.68192	0.866;0.956	D	0.93392	0.6752	10	0.87932	D	0	-20.383	15.3337	0.74234	0.0:1.0:0.0:0.0	.	566;506	E9PE13;Q96N76	.;HUTU_HUMAN	D	506;566	ENSP00000290868:G506D;ENSP00000373073:G566D	ENSP00000290868:G506D	G	-	2	0	UROC1	127694042	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.942000	0.75928	2.189000	0.69895	0.484000	0.47621	GGC		TCGA-IB-7651-01A-11D-2154-08	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	1	0	1	27	94	0	39	0	0	1	0	0	39	2		0	0	0	0	0	2	1	1	27	94	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RAF1	5894	broad.mit.edu	37	3	12626108	12626108	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12626108G>T	ENST00000251849.4	-	17	2291	c.1852C>A	c.(1852-1854)Cgg>Agg	p.R618R	RAF1_ENST00000442415.2_Silent_p.R638R|RAF1_ENST00000534997.1_Silent_p.R403R|RAF1_ENST00000542177.1_Silent_p.R537R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	32				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAAGCGCTCCGGTTGATCTTC	0.532000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome						Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0							SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	ENST00000251849.4	1	1	hg19	CCDS2612.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	1	0	1	64	341	0	89	1	1	102	294	0	89	2		0	0	0	0	0	2	1	1	63	326	0	89	2								-2.974097	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA1	5361	broad.mit.edu	37	3	126710388	126710388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126710388G>A	ENST00000393409.2	+	2	1356	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	PLXNA1_ENST00000251772.4_Silent_p.T429T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					TCGCCGGCACGCGAAGTGGCC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000393409.2	1	1	hg19	CCDS33847.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	0	0	0	101	152	0	49	1	1	41	53	0	49	2		0	0	0	0	0	2	1	1	98	148	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA1	5361	broad.mit.edu	37	3	126733350	126733350	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126733350C>T	ENST00000393409.2	+	12	2634	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PLXNA1_ENST00000251772.4_Silent_p.G855G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					CGAGGCAGGGCGGCACGCGGC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000393409.2	1	1	hg19	CCDS33847.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	0	46	175	0	33	1	9.994835e-01	12	35	0	33	2		0	0	0	0	0	2	1	1	47	170	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA1	5361	broad.mit.edu	37	3	126735415	126735415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735415G>A	ENST00000393409.2	+	15	3070	c.3070G>A	c.(3070-3072)Gct>Act	p.A1024T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1001T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					CCCTGGCAGCGCTCCCATCAT	0.637000																								0							SO:0001583	missense			ENST00000393409.2	1	1	hg19	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702763	0.30232	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76448	-1.02;-1.02	3.84	2.96	0.34315	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.400014	0.23164	N	0.051205	T	0.66733	0.2819	L	0.46157	1.445	0.33196	D	0.551453	B	0.15930	0.015	B	0.20184	0.028	T	0.63171	-0.6697	10	0.22706	T	0.39	.	6.7254	0.23353	0.0995:0.0:0.6776:0.2228	.	1024	Q9UIW2	PLXA1_HUMAN	T	1024;1001	ENSP00000377061:A1024T;ENSP00000251772:A1001T	ENSP00000251772:A1001T	A	+	1	0	PLXNA1	128218105	0.863000	0.29885	0.928000	0.36995	0.689000	0.40095	2.159000	0.42339	0.836000	0.34901	-0.339000	0.08088	GCT		TCGA-IB-7651-01A-11D-2154-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1	80	415	0	76	1	9.999931e-01	24	66	0	76	2		0	0	0	0	0	2	1	1	79	408	0	75	2								-20.000000	1	1	121410	1	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA1	5361	broad.mit.edu	37	3	126735821	126735821	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735821C>A	ENST00000393409.2	+	16	3217	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1050M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					AGGCACCAACCTGGCCACTGT	0.642000																								0							SO:0001583	missense			ENST00000393409.2	1	1	hg19	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330291	0.60743	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	D;D	0.81499	-1.5;-1.5	4.08	3.21	0.36854	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000078	D	0.89663	0.6780	M	0.90870	3.155	0.46725	D	0.99917	D	0.89917	1.0	D	0.97110	1.0	D	0.88768	0.3262	10	0.87932	D	0	.	6.8375	0.23945	0.0:0.6852:0.1465:0.1683	.	1073	Q9UIW2	PLXA1_HUMAN	M	1073;1050	ENSP00000377061:L1073M;ENSP00000251772:L1050M	ENSP00000251772:L1050M	L	+	1	2	PLXNA1	128218511	0.996000	0.38824	1.000000	0.80357	0.824000	0.46624	1.916000	0.39986	0.935000	0.37341	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1	53	298	0	68	1	9.999991e-01	33	85	0	68	2		0	0	0	0	0	2	1	1	53	289	0	68	2								-3.323304	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PLXNA1	5361	broad.mit.edu	37	3	126736699	126736699	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126736699C>T	ENST00000393409.2	+	18	3624	c.3624C>T	c.(3622-3624)tgC>tgT	p.C1208C	PLXNA1_ENST00000251772.4_Silent_p.C1185C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					AACTGCTGTGCGAGGCGCCCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000393409.2	1	1	hg19	CCDS33847.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1	55	315	0	62	1	9.997014e-01	11	60	0	62	2		0	0	0	0	0	2	1	1	55	306	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PLXNA1	5361	broad.mit.edu	37	3	126741028	126741028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741028G>A	ENST00000393409.2	+	21	4139	c.4139G>A	c.(4138-4140)aGc>aAc	p.S1380N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1357N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					GCACAGCGCAGCTTCTCCATG	0.617000																								0							SO:0001583	missense			ENST00000393409.2	1	1	hg19	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641026	0.67244	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12039	2.72;2.72	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.165437	0.42053	D	0.000771	T	0.28830	0.0715	L	0.60067	1.865	0.47778	D	0.999519	P	0.46578	0.88	P	0.58660	0.843	T	0.02797	-1.1109	10	0.33940	T	0.23	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1380	Q9UIW2	PLXA1_HUMAN	N	1380;1357	ENSP00000377061:S1380N;ENSP00000251772:S1357N	ENSP00000251772:S1357N	S	+	2	0	PLXNA1	128223718	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.254000	0.78329	2.177000	0.69029	0.467000	0.42956	AGC		TCGA-IB-7651-01A-11D-2154-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1	27	127	0	38	1	9.999899e-01	33	59	0	38	2		0	0	0	0	0	2	1	1	27	125	0	37	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
PLXNA1	5361	broad.mit.edu	37	3	126741119	126741119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741119G>T	ENST00000393409.2	+	21	4230	c.4230G>T	c.(4228-4230)caG>caT	p.Q1410H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q1387H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					TGCTCAAGCAGCTGCTTTCCG	0.642000																								0							SO:0001583	missense			ENST00000393409.2	1	1	hg19	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950038	0.53186	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17691	2.26;2.26	3.36	3.36	0.38483	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.098879	0.43919	D	0.000501	T	0.19525	0.0469	L	0.39467	1.215	0.80722	D	1	B	0.21309	0.054	B	0.33254	0.16	T	0.14755	-1.0461	10	0.52906	T	0.07	.	16.0072	0.80372	0.0:0.0:1.0:0.0	.	1410	Q9UIW2	PLXA1_HUMAN	H	1410;1387	ENSP00000377061:Q1410H;ENSP00000251772:Q1387H	ENSP00000251772:Q1387H	Q	+	3	2	PLXNA1	128223809	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.379000	0.66196	2.177000	0.69029	0.467000	0.42956	CAG		TCGA-IB-7651-01A-11D-2154-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	0	0	1	32	157	0	43	1	9.999981e-01	32	75	0	43	2		0	0	0	0	0	2	1	1	32	153	0	43	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
PLXNA1	5361	broad.mit.edu	37	3	126752801	126752801	+	Missense_Mutation	SNP	C	C	T	rs149124469	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126752801C>T	ENST00000393409.2	+	31	5632	c.5632C>T	c.(5632-5634)Cgg>Tgg	p.R1878W	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1855W	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					GCAGGCGCGGCGGCAGCGGCT	0.657000																								0							SO:0001583	missense			ENST00000393409.2	1	0	hg19	CCDS33847.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.11	3.764796	0.69878	4.55E-4	0.0	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11063	2.81;2.81	4.02	0.523	0.17060	.	0.000000	0.50627	D	0.000103	T	0.23766	0.0575	M	0.68317	2.08	0.44762	D	0.997768	D;D	0.69078	0.997;0.99	P;P	0.61132	0.884;0.834	T	0.02437	-1.1159	10	0.87932	D	0	.	11.4945	0.50400	0.7252:0.2748:0.0:0.0	.	492;1878	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	W	1878;1855	ENSP00000377061:R1878W;ENSP00000251772:R1855W	ENSP00000251772:R1855W	R	+	1	2	PLXNA1	128235491	1.000000	0.71417	0.995000	0.50966	0.736000	0.42039	1.457000	0.35212	0.287000	0.22375	0.313000	0.20887	CGG		TCGA-IB-7651-01A-11D-2154-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	1	0	1	12	61	0	16	1	9.999440e-01	27	76	0	16	2		0	0	0	0	0	2	1	9.992763e-01	11	60	0	15	2								-9.841339	1	0	120832	2	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.997934	0.990000	1	9.900000e-01	1
TPRA1	131601	broad.mit.edu	37	3	127295733	127295733	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127295733G>T	ENST00000355552.3	-	5	725	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M|TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M|TPRA1_ENST00000465915.1_5'Flank	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1			9					ATCTCCCACAGGATCTGCACG	0.672000																								0							SO:0001583	missense			ENST00000355552.3	1	1	hg19	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834041	0.71373	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643	.	.	.	4.51	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68678	-0.5345	9	0.72032	D	0.01	-11.9186	10.4878	0.44733	0.1617:0.0:0.8383:0.0	.	117;117	Q86W33-3;Q86W33	.;TPRA1_HUMAN	M	117	.	ENSP00000296210:L117M	L	-	1	2	TPRA1	128778423	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.232000	0.58645	1.006000	0.39211	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	1	0	1	55	221	0	50	1	1	47	119	0	50	2		0	0	0	0	0	2	1	1	55	219	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM2	4171	broad.mit.edu	37	3	127318161	127318161	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127318161G>A	ENST00000265056.7	+	2	251	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2			6					TCTCTTGCAGGAATCATCGGA	0.572000																								0							SO:0001630	splice_region_variant			ENST00000265056.7	1	0	hg19	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192676	0.78902	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02301	4.35	5.2	5.2	0.72013	.	1.521000	0.04101	N	0.312860	T	0.02649	0.0080	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52403	-0.8580	10	0.59425	D	0.04	-21.1968	15.9144	0.79500	0.0:0.0:1.0:0.0	.	3	P49736	MCM2_HUMAN	K	3	ENSP00000265056:E3K	ENSP00000265056:E3K	E	+	1	0	MCM2	128800851	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.119000	0.71590	2.417000	0.82017	0.585000	0.79938	GAA		TCGA-IB-7651-01A-11D-2154-08	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1	1	0	1	270	1194	0	265	1	9.999961e-01	20	57	0	265	2		0	0	0	0	0	2	1	1	266	1178	0	261	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM2	4171	broad.mit.edu	37	3	127339940	127339940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127339940C>T	ENST00000265056.7	+	15	2717	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	p.R825W(1)		6					CCTTTCATTCCGGCGTGACAA	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000265056.7	1	1	hg19	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935240	0.73442	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02525	4.26	5.38	4.5	0.54988	.	0.103066	0.64402	D	0.000007	T	0.12347	0.0300	M	0.76002	2.32	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.99;0.975	D;P;P	0.72625	0.978;0.586;0.582	T	0.00235	-1.1892	10	0.87932	D	0	-21.8525	9.0803	0.36547	0.2869:0.5936:0.1195:0.0	.	875;695;825	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	W	825;729;875	ENSP00000265056:R825W	ENSP00000265056:R825W	R	+	1	2	MCM2	128822630	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	1.833000	0.39161	1.240000	0.43803	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1	1	0	1	170	771	0	187	1	9.998953e-01	15	46	0	187	2		0	0	0	0	0	2	1	1	170	753	0	183	2								-2.911483	1	1	121412	3	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABTB1	80325	broad.mit.edu	37	3	127394818	127394818	+	Missense_Mutation	SNP	C	C	T	rs147002334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127394818C>T	ENST00000232744.8	+	4	267	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1			10					CCCAGGAGCCCGCTGCGAGGC	0.637000																								0							SO:0001583	missense			ENST00000232744.8	1	1	hg19	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.939283	0.34189	.	.	ENSG00000114626	ENST00000361019;ENST00000232744	D	0.86366	-2.11	4.71	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.055368	0.64402	D	0.000003	D	0.87916	0.6298	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65773	0.938;0.93	D	0.87236	0.2263	10	0.51188	T	0.08	-5.7025	9.9066	0.41379	0.4822:0.5178:0.0:0.0	.	61;36	Q969K4;Q969K4-3	ABTB1_HUMAN;.	C	34;61	ENSP00000232744:R61C	ENSP00000232744:R61C	R	+	1	0	ABTB1	128877508	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.608000	0.74168	2.156000	0.67533	0.457000	0.33378	CGC		TCGA-IB-7651-01A-11D-2154-08	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	1	0	1	17	108	0	22	1	1	111	165	0	22	2		0	0	0	0	0	2	1	9.999771e-01	16	109	0	22	2								-20.000000	1	1	121334	2	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.980000	1.000000	1.000000	0.997417	0.990000	1	9.900000e-01	1
MGLL	11343	broad.mit.edu	37	3	127500698	127500698	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127500698C>T	ENST00000434178.2	-	3	1062	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	MGLL_ENST00000453507.2_Missense_Mutation_p.G66S|MGLL_ENST00000398104.1_Missense_Mutation_p.G56S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S			Q99685	MGLL_HUMAN	monoglyceride lipase			6					TCATAGCGGCCACTGTGCTCT	0.642000																								0							SO:0001583	missense			ENST00000434178.2	0	1	hg19	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474237	0.84640	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000494830	T;T;T;T	0.66460	-0.21;-0.21;-0.21;0.98	5.19	5.19	0.71726	.	0.049669	0.85682	D	0.000000	T	0.78515	0.4295	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.64830	0.994;0.982;0.99;0.994	D;D;D;D	0.70716	0.966;0.945;0.97;0.968	T	0.79647	-0.1716	10	0.56958	D	0.05	-9.3992	14.2186	0.65809	0.0:1.0:0.0:0.0	.	66;56;56;66	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	S	56;66;56;66;66;56	ENSP00000402798:G56S;ENSP00000265052:G66S;ENSP00000381176:G56S;ENSP00000417489:G56S	ENSP00000265052:G66S	G	-	1	0	MGLL	128983388	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	6.278000	0.72614	2.411000	0.81874	0.467000	0.42956	GGC		TCGA-IB-7651-01A-11D-2154-08	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	0	0	0	10	392	0	87	1	9.982429e-01	35	410	0	87	2		0	0	0	0	0	2	1	9.965516e-01	10	382	0	83	2								-9.573845	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.310000	0.150000	1.000000	0.290000	0.356457	0.310000	0	2.200000e-01	4.400000e-01
KBTBD12	166348	broad.mit.edu	37	3	127646814	127646814	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127646814G>A	ENST00000405109.1	+	3	1745	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	KBTBD12_ENST00000407609.3_Silent_p.L33L|KBTBD12_ENST00000405256.1_Silent_p.L426L|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12			13					CACTGCAATTGGCATGTCATG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000405109.1	1	1	hg19	CCDS33848.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	1	0	1	60	237	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	57	233	0	50	2								-3.429809	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC61A1	29927	broad.mit.edu	37	3	127775659	127775659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127775659G>A	ENST00000243253.3	+	5	512	c.328G>A	c.(328-330)Gct>Act	p.A110T	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)			21					AAAAGACCGAGCTCTCTTCAA	0.408000																								0							SO:0001583	missense			ENST00000243253.3	1	1	hg19	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893797	0.72639	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000481210	.	.	.	5.79	5.79	0.91817	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.82517	2.595	0.80722	D	1	B	0.18166	0.026	B	0.34991	0.193	T	0.74518	-0.3639	9	0.36615	T	0.2	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	110	P61619	S61A1_HUMAN	T	116;110;57	.	ENSP00000243253:A110T	A	+	1	0	SEC61A1	129258349	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.869000	0.99810	2.731000	0.93534	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	0	0	1	27	316	0	61	1	1	83	638	0	61	2		0	0	0	0	0	2	1	9.999999e-01	27	305	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.940000	0.630000	1.000000	1.000000	0.906752	0.940000	1	7.700000e-01	1
EEFSEC	60678	broad.mit.edu	37	3	127965783	127965783	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127965783C>A	ENST00000254730.6	+	2	475	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific			25					CTGCCAGAAGCTGGTCGTGGT	0.488000																								0							SO:0001583	missense			ENST00000254730.6	1	1	hg19	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	9.424	1.083757	0.20309	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.71817	-0.6;-0.6	4.95	3.0	0.34707	Protein synthesis factor, GTP-binding (2);	0.047246	0.85682	D	0.000000	T	0.43743	0.1261	N	0.10707	0.03	0.43036	D	0.994618	B;B	0.33171	0.4;0.05	B;B	0.34779	0.189;0.136	T	0.24333	-1.0163	10	0.10377	T	0.69	-7.6761	6.5504	0.22431	0.3495:0.5574:0.0:0.0931	.	141;141	C9J8T0;P57772	.;SELB_HUMAN	M	141	ENSP00000254730:L141M;ENSP00000417660:L141M	ENSP00000254730:L141M	L	+	1	2	EEFSEC	129448473	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.824000	0.55723	1.053000	0.40415	0.313000	0.20887	CTG		TCGA-IB-7651-01A-11D-2154-08	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	1	0	1	215	964	0	252	1	9.994926e-01	16	35	0	252	2		0	0	0	0	0	2	1	1	210	949	0	251	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EEFSEC	60678	broad.mit.edu	37	3	128126977	128126977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128126977C>T	ENST00000254730.6	+	7	1720	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific			25					CCGGGCTGGCCGTGGGGAGGC	0.647000																								0							SO:0001583	missense			ENST00000254730.6	1	1	hg19	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081652	0.20309	.	.	ENSG00000132394	ENST00000254730	T	0.51071	0.72	4.8	2.74	0.32292	.	0.390062	0.27460	N	0.019265	T	0.27098	0.0664	N	0.22421	0.69	0.26590	N	0.973224	P	0.51653	0.947	B	0.34452	0.183	T	0.20042	-1.0287	10	0.72032	D	0.01	-9.3772	10.2348	0.43277	0.5808:0.4192:0.0:0.0	.	556	P57772	SELB_HUMAN	C	556	ENSP00000254730:R556C	ENSP00000254730:R556C	R	+	1	0	EEFSEC	129609667	0.981000	0.34729	0.106000	0.21319	0.066000	0.16364	0.969000	0.29370	0.980000	0.38523	0.467000	0.42956	CGT		TCGA-IB-7651-01A-11D-2154-08	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	1	0	1	10	205	0	36	1	9.574384e-01	10	104	0	36	2		0	0	0	0	0	2	1	9.967904e-01	10	201	0	35	2								-12.489350	1	1	121392	4	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.570000	0.290000	1.000000	0.540000	0.608377	0.570000	0	4.100000e-01	8.000000e-01
DNAJB8	165721	broad.mit.edu	37	3	128181722	128181722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128181722G>A	ENST00000469083.1	-	2	2924	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8			11					CGGCCACCACGGTCACTATTG	0.582000																								0							SO:0001583	missense			ENST00000469083.1	1	1	hg19	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	A	0.198	-1.046853	0.01997	0.0	1.16E-4	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.73575	-0.76;-0.76	3.92	-0.192	0.13248	.	0.000000	0.32578	U	0.005905	T	0.54367	0.1854	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34800	-0.9814	10	0.38643	T	0.18	.	2.1147	0.03711	0.2071:0.1389:0.512:0.142	.	123	Q8NHS0	DNJB8_HUMAN	C	123	ENSP00000417418:R123C;ENSP00000316053:R123C	ENSP00000316053:R123C	R	-	1	0	DNAJB8	129664412	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.734000	0.26101	-0.869000	0.04052	-4.048000	0.00012	CGT		TCGA-IB-7651-01A-11D-2154-08	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	1	0	1	59	321	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	59	317	0	80	2								-2.972837	1	1	121410	8	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GATA2	2624	broad.mit.edu	37	3	128204709	128204709	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128204709G>A	ENST00000341105.2	-	3	1063	c.732C>T	c.(730-732)caC>caT	p.H244H	GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2			79					TGGGGATGGGGTGGTGTGTAG	0.642000			Mis		AML(CML blast transformation)										Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0							SO:0001819	synonymous_variant			ENST00000341105.2	1	1	hg19	CCDS3049.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	1	0	0	17	230	0	48	1	6.325720e-01	2	28	0	48	2		0	0	0	0	0	2	1	9.999646e-01	16	226	0	46	2								-19.957180	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.830000	0.500000	1.000000	1.000000	0.825775	0.830000	0	6.500000e-01	1
RAB7A	7879	broad.mit.edu	37	3	128514202	128514202	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128514202G>A	ENST00000265062.3	+	2	238		c.e2-1		RAB7A_ENST00000485280.1_5'UTR|RAB7A_ENST00000482525.1_Splice_Site	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family			8					TCCCCCTTTAGTTTGAAGGAT	0.453000											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000265062.3	1	1	hg19	CCDS3052.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1	1	0	1	67	330	0	76	0	7.793167e-02	0	3	0	76	2		0	0	0	0	0	2	1	1	67	326	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAND2	23066	broad.mit.edu	37	3	12854865	12854865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12854865G>T	ENST00000456430.2	+	7	1025	c.984G>T	c.(982-984)gaG>gaT	p.E328D	CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)			37					TGGAGACAGAGGATAGTGAAT	0.537000													GBM(43;676 868 1633 6395 37496)											0							SO:0001583	missense			ENST00000456430.2	1	1	hg19	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922797	0.18056	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.07021	3.23;3.23	4.67	-0.724	0.11177	Armadillo-type fold (1);	0.190310	0.35970	N	0.002877	T	0.05640	0.0148	N	0.02420	-0.555	0.80722	D	1	B;D	0.56035	0.002;0.974	B;D	0.70487	0.006;0.969	T	0.49062	-0.8978	10	0.10111	T	0.7	-10.9144	5.4665	0.16646	0.3542:0.1424:0.5033:0.0	.	328;235	O75155;O75155-2	CAND2_HUMAN;.	D	235;328	ENSP00000295989:E235D;ENSP00000387641:E328D	ENSP00000295989:E235D	E	+	3	2	CAND2	12829865	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	0.983000	0.29552	0.023000	0.15187	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	1	0	1	36	137	0	45	0	2.846927e-01	0	5	0	45	2		0	0	0	0	0	2	1	1	35	136	0	45	2								-3.656870	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAND2	23066	broad.mit.edu	37	3	12856659	12856659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12856659C>T	ENST00000456430.2	+	8	1067	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	CAND2_ENST00000295989.5_Silent_p.S249S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)			37					ACGAGTACAGCGATGACGATG	0.612000													GBM(43;676 868 1633 6395 37496)											0							SO:0001819	synonymous_variant			ENST00000456430.2	1	1	hg19	CCDS54554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	1	0	0	71	306	0	82	0	5.277462e-01	0	9	0	82	2		0	0	0	0	0	2	1	1	70	296	0	82	2								-20.000000	1	1	121182	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAND2	23066	broad.mit.edu	37	3	12858054	12858054	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12858054C>A	ENST00000456430.2	+	10	1664	c.1623C>A	c.(1621-1623)gcC>gcA	p.A541A	CAND2_ENST00000295989.5_Silent_p.A448A	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)			37					CAGCCGAGGCCCTGGTGGTGC	0.617000													GBM(43;676 868 1633 6395 37496)											0							SO:0001819	synonymous_variant			ENST00000456430.2	1	1	hg19	CCDS54554.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	0	0	9	255	0	46	0	2.060493e-02	0	6	0	46	2		0	0	0	0	0	2	1	9.943452e-01	9	254	0	45	2								-10.622500	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.420000	0.200000	1.000000	0.390000	0.468347	0.420000	0	3.000000e-01	6.100000e-01
ACAD9	28976	broad.mit.edu	37	3	128621399	128621399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128621399G>A	ENST00000308982.7	+	9	967	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9			30					CCTGCAGGTGGCCATGAACAT	0.607000																								0							SO:0001583	missense			ENST00000308982.7	1	1	hg19	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.578975	0.96565	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.96913	-4.17	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99533	1.0961	10	0.87932	D	0	.	16.1964	0.82029	0.0:0.0:1.0:0.0	.	173;246;296	Q9H9W4;Q59FN3;Q9H845	.;.;ACAD9_HUMAN	T	296;163	ENSP00000312618:A296T	ENSP00000312618:A296T	A	+	1	0	ACAD9	130104089	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.018000	0.93657	2.412000	0.81896	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	1	0	1	71	334	0	78	1	1	28	91	0	78	2		0	0	0	0	0	2	1	1	69	328	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1257	57501	broad.mit.edu	37	3	128706495	128706495	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128706495C>T	ENST00000265068.5	-	4	798	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	p.G211C(1)		14					TCTGTGAAGCCGGCAGTCTTT	0.393000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000265068.5	1	1	hg19	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110812	0.37242	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	1.18	0.20946	.	1.276940	0.05705	N	0.594801	T	0.18215	0.0437	N	0.19112	0.55	0.09310	N	1	B;B	0.34181	0.44;0.44	B;B	0.25405	0.06;0.06	T	0.15809	-1.0424	9	0.13108	T	0.6	-1.7784	4.2781	0.10818	0.1632:0.5601:0.0:0.2768	.	211;211	Q9ULG3;D6RH05	K1257_HUMAN;.	S	211;211;99	.	ENSP00000265068:G211S	G	-	1	0	KIAA1257	130189185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.417000	0.07088	0.258000	0.21686	-0.225000	0.12378	GGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	1	0	1	72	331	0	94	1	4.363892e-01	2	6	0	94	2		0	0	0	0	0	2	1	1	71	328	0	94	2								-2.877848	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1257	57501	broad.mit.edu	37	3	128711980	128711980	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128711980C>A	ENST00000265068.5	-	2	335	c.168G>T	c.(166-168)gaG>gaT	p.E56D	KIAA1257_ENST00000515659.1_5'Flank|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257			14					CAGATGAGGACTCGATGCTGC	0.597000																								0							SO:0001583	missense			ENST00000265068.5	1	1	hg19	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926960	0.34002	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	4.37	-3.11	0.05299	.	.	.	.	.	T	0.13841	0.0335	N	0.24115	0.695	0.09310	N	0.999999	P;P	0.37330	0.59;0.59	B;B	0.31614	0.133;0.133	T	0.14200	-1.0481	8	0.51188	T	0.08	-2.8392	2.5278	0.04695	0.4419:0.2146:0.2505:0.0929	.	56;56	Q9ULG3;D6RH05	K1257_HUMAN;.	D	56	.	ENSP00000265068:E56D	E	-	3	2	KIAA1257	130194670	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.763000	0.04740	-0.451000	0.07097	-1.398000	0.01145	GAG		TCGA-IB-7651-01A-11D-2154-08	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	1	0	0	118	492	0	109	0	3.806417e-02	0	2	0	109	2		0	0	0	0	0	2	1	1	117	486	0	109	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAND2	23066	broad.mit.edu	37	3	12875277	12875277	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12875277G>T	ENST00000456430.2	+	15	3548	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H|RP11-767C1.2_ENST00000606447.1_RNA	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)			37					CTGTGAAGCAGGAGTTTGAAA	0.547000													GBM(43;676 868 1633 6395 37496)											0							SO:0001583	missense			ENST00000456430.2	1	1	hg19	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317076	0.60524	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.99	3.05	0.35203	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.984	D	0.85285	0.1064	10	0.87932	D	0	-32.9031	5.4587	0.16604	0.3121:0.0:0.6879:0.0	.	1169;1052	O75155;O75155-2	CAND2_HUMAN;.	H	1052;1169	ENSP00000295989:Q1052H;ENSP00000387641:Q1169H	ENSP00000295989:Q1052H	Q	+	3	2	CAND2	12850277	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.214000	0.42853	1.328000	0.45358	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	0	0	1	99	407	1	98	0	8.714266e-01	0	17	1	98	2		0	0	0	0	0	2	1	1	97	394	1	98	17								-3.116507	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GP9	2815	broad.mit.edu	37	3	128780850	128780850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780850G>A	ENST00000307395.4	+	3	490	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)			6				Quinine(DB00468)	CTGGCACTGTGACTGCAGCCT	0.682000																								0							SO:0001583	missense			ENST00000307395.4	1	1	hg19	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291792	0.80914	.	.	ENSG00000169704	ENST00000307395	D	0.91068	-2.78	4.17	4.17	0.49024	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.91723	0.7383	M	0.69185	2.1	0.45791	D	0.998672	D	0.63880	0.993	P	0.52309	0.695	D	0.91489	0.5210	10	0.42905	T	0.14	-34.9611	13.9974	0.64411	0.0:0.0:1.0:0.0	.	90	P14770	GPIX_HUMAN	N	90	ENSP00000303942:D90N	ENSP00000303942:D90N	D	+	1	0	GP9	130263540	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.765000	0.55272	2.120000	0.65058	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1	1	0	1	61	304	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	59	301	0	59	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GP9	2815	broad.mit.edu	37	3	128780912	128780912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780912G>T	ENST00000307395.4	+	3	552	c.330G>T	c.(328-330)caG>caT	p.Q110H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)			6				Quinine(DB00468)	CCCTGCTGCAGGTCCGCTGTG	0.701000																								0							SO:0001583	missense			ENST00000307395.4	1	1	hg19	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233487	0.22626	.	.	ENSG00000169704	ENST00000307395	D	0.90133	-2.62	4.17	-7.05	0.01573	Cysteine-rich flanking region, C-terminal (1);	2.023410	0.02760	N	0.118489	T	0.82116	0.4967	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68557	-0.5377	10	0.30078	T	0.28	0.4949	8.6414	0.33978	0.0:0.1345:0.4621:0.4033	.	110	P14770	GPIX_HUMAN	H	110	ENSP00000303942:Q110H	ENSP00000303942:Q110H	Q	+	3	2	GP9	130263602	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.946000	0.00328	-1.210000	0.02627	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1	1	0	0	21	173	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999979e-01	20	170	0	25	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.830000	1.000000	1.000000	0.988219	0.990000	1	9.900000e-01	1
CNBP	7555	broad.mit.edu	37	3	128889940	128889940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128889940G>A	ENST00000422453.2	-	4	558	c.398C>T	c.(397-399)aCc>aTc	p.T133I	CNBP_ENST00000446936.2_Missense_Mutation_p.T128I|CNBP_ENST00000451728.2_Missense_Mutation_p.T134I|CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein			5					CTTCACTTTGGTGCAGTCTTT	0.433000																								0							SO:0001583	missense			ENST00000422453.2	1	1	hg19	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792571	0.50102	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	5.74	5.74	0.90152	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.152074	0.64402	D	0.000015	T	0.74275	0.3695	M	0.72576	2.205	0.51233	D	0.999914	P;D;P	0.54964	0.955;0.969;0.908	P;P;P	0.55785	0.784;0.675;0.776	T	0.74777	-0.3550	9	0.49607	T	0.09	-4.9209	17.4245	0.87522	0.0:0.0:1.0:0.0	.	116;126;133	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	I	126;133;134;128;116;123;135	.	ENSP00000410619:T133I	T	-	2	0	CNBP	130372630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.013000	0.76373	2.732000	0.93576	0.591000	0.81541	ACC		TCGA-IB-7651-01A-11D-2154-08	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	1	0	1	55	293	0	65	1	1	345	1177	0	65	2		0	0	0	0	0	2	1	1	54	289	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNBP	7555	broad.mit.edu	37	3	128890570	128890570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890570G>A	ENST00000422453.2	-	2	191	c.31C>T	c.(31-33)Cga>Tga	p.R11*	CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein			5					TGGCCAGATCGTCCACACTTG	0.463000																								0							SO:0001587	stop_gained			ENST00000422453.2	0	1	hg19	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	37	6.241875	0.97403	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626;ENST00000512338	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6404	0.88135	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000410619:R11X	R	-	1	2	CNBP	130373260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.254000	0.72460	2.779000	0.95612	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	0	0	1	49	182	1	51	1	1	204	655	1	51	44		0	0	0	0	0	2	1	9.999990e-01	48	180	1	50	15								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNBP	7555	broad.mit.edu	37	3	128890615	128890615	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890615C>A	ENST00000422453.2	-	2	147		c.e2-1		CNBP_ENST00000446936.2_Splice_Site|CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000500450.2_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000502976.1_Splice_Site	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein			5					GCAGTCAGATCTTTGAAATAT	0.413000																								0							SO:0001630	splice_region_variant			ENST00000422453.2	1	1	hg19	CCDS3056.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	1	0	0	18	185	0	44	0	8.998342e-03	0	2	0	44	2		0	0	0	0	0	2	1	9.999852e-01	18	184	0	44	2								-19.999980	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.650000	1.000000	1.000000	0.943934	0.990000	1	8.400000e-01	1
IFT122	55764	broad.mit.edu	37	3	129238491	129238491	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238491G>T	ENST00000348417.2	+	29	3629	c.3552G>T	c.(3550-3552)aaG>aaT	p.K1184N	IFT122_ENST00000440957.2_Missense_Mutation_p.K975N|IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000296266.3_Missense_Mutation_p.K1235N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122			52					TCCTCATCAAGCGATGGCCCC	0.652000																								0							SO:0001583	missense			ENST00000348417.2	1	1	hg19	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561673	0.27915	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.61510	0.75;0.1;0.24;0.29;0.9;0.89;0.74;0.31	5.97	4.2	0.49525	.	0.043465	0.85682	D	0.000000	T	0.68805	0.3041	M	0.70595	2.14	0.80722	D	1	D;D;D;P;P;P;P;P;D;D	0.67145	0.989;0.992;0.993;0.93;0.791;0.69;0.69;0.793;0.981;0.996	P;D;P;P;B;B;B;P;P;P	0.64687	0.787;0.928;0.738;0.615;0.335;0.335;0.335;0.536;0.617;0.866	T	0.65516	-0.6149	10	0.21014	T	0.42	-25.1101	10.6061	0.45394	0.2547:0.0:0.7453:0.0	.	975;510;1177;572;1061;1026;1074;1125;1184;1235	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	N	1125;1235;1177;1034;1061;1074;1184;1026;975	ENSP00000323973:K1125N;ENSP00000296266:K1235N;ENSP00000425536:K1177N;ENSP00000410946:K1034N;ENSP00000422179:K1061N;ENSP00000324165:K1074N;ENSP00000324005:K1184N;ENSP00000401569:K975N	ENSP00000296266:K1235N	K	+	3	2	IFT122	130721181	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	0.995000	0.29706	0.881000	0.35993	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	1	0	1	72	329	0	101	1	9.999003e-01	19	45	0	101	2		0	0	0	0	0	2	1	1	72	323	0	100	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT122	55764	broad.mit.edu	37	3	129238526	129238526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238526G>A	ENST00000348417.2	+	29	3664	c.3587G>A	c.(3586-3588)cGc>cAc	p.R1196H	IFT122_ENST00000440957.2_Missense_Mutation_p.R987H|IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000296266.3_Missense_Mutation_p.R1247H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122			52					CAATACTTCCGCTCACTGCTG	0.622000																								0							SO:0001583	missense			ENST00000348417.2	1	1	hg19	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423331	0.83559	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.63417	0.61;-0.04;0.1;0.15;0.76;0.75;0.6;0.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.83275	0.996;0.97;0.991;0.955;0.941;0.941;0.927;0.967;0.991;0.996	D	0.83452	0.0049	10	0.87932	D	0	-23.4214	20.428	0.99075	0.0:0.0:1.0:0.0	.	987;522;1189;584;1073;1038;1086;1137;1196;1247	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	1137;1247;1189;1046;1073;1086;1196;1038;987	ENSP00000323973:R1137H;ENSP00000296266:R1247H;ENSP00000425536:R1189H;ENSP00000410946:R1046H;ENSP00000422179:R1073H;ENSP00000324165:R1086H;ENSP00000324005:R1196H;ENSP00000401569:R987H	ENSP00000296266:R1247H	R	+	2	0	IFT122	130721216	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	9.792000	0.99085	2.837000	0.97791	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	1	0	1	81	422	0	131	1	9.997149e-01	16	48	0	131	2		0	0	0	0	0	2	1	1	81	415	0	130	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXND1	23129	broad.mit.edu	37	3	129281956	129281956	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129281956T>C	ENST00000324093.4	-	26	4827	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	PLXND1_ENST00000393239.1_Missense_Mutation_p.N1550S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1		PLXND1/TMCC1(4)	72					GGCCTCGATGTTCTCCCGCAG	0.642000													Ovarian(97;366 1484 3738 22084 39045)											0							SO:0001583	missense			ENST00000324093.4	1	1	hg19	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038040	0.75617	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.10668	2.85;2.85	5.25	5.25	0.73442	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.167597	0.51477	D	0.000094	T	0.18923	0.0454	N	0.16790	0.44	0.58432	D	0.999999	P;D	0.89917	0.945;1.0	P;D	0.87578	0.511;0.998	T	0.08554	-1.0716	10	0.42905	T	0.14	.	15.1774	0.72924	0.0:0.0:0.0:1.0	.	145;1550	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	S	1550	ENSP00000317128:N1550S;ENSP00000376931:N1550S	ENSP00000317128:N1550S	N	-	2	0	PLXND1	130764646	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.830000	0.86741	1.988000	0.58038	0.379000	0.24179	AAC		TCGA-IB-7651-01A-11D-2154-08	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	1	0	1	53	203	0	35	1	1	12	261	0	35	2		0	0	0	0	0	2	1	1	52	198	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXND1	23129	broad.mit.edu	37	3	129284287	129284287	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129284287C>T	ENST00000324093.4	-	25	4595	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1473T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1		PLXND1/TMCC1(4)	72					GCGGCCGAGGCGTCAATGAGG	0.592000													Ovarian(97;366 1484 3738 22084 39045)											0							SO:0001583	missense			ENST00000324093.4	1	1	hg19	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885735	0.33255	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11712	2.75;2.75	4.96	4.96	0.65561	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.142434	0.46442	D	0.000293	T	0.19644	0.0472	L	0.36672	1.1	0.44807	D	0.997812	P;D	0.69078	0.572;0.997	B;P	0.59424	0.09;0.857	T	0.00443	-1.1736	10	0.72032	D	0.01	.	13.2338	0.59958	0.1589:0.8411:0.0:0.0	.	68;1473	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1473	ENSP00000317128:A1473T;ENSP00000376931:A1473T	ENSP00000317128:A1473T	A	-	1	0	PLXND1	130766977	0.996000	0.38824	1.000000	0.80357	0.132000	0.20833	3.060000	0.49955	2.294000	0.77228	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	1	0	1	79	325	0	78	1	1	10	176	0	78	2	0	0	1	0	0	1	2	1	1	79	323	0	78	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXND1	23129	broad.mit.edu	37	3	129305525	129305525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129305525C>T	ENST00000324093.4	-	3	1704	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R509Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1		PLXND1/TMCC1(4)	72					AGTCACCACCCGCCTGCTCAC	0.612000													Ovarian(97;366 1484 3738 22084 39045)											0							SO:0001583	missense			ENST00000324093.4	0	1	hg19	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589062	0.28357	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.10477	2.87;2.87;3.59	4.22	0.67	0.17923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.517808	0.18328	N	0.144595	T	0.04724	0.0128	N	0.12182	0.205	0.09310	N	1	B	0.33940	0.433	B	0.27796	0.083	T	0.38520	-0.9657	10	0.37606	T	0.19	.	7.5175	0.27608	0.0:0.4374:0.0:0.5626	.	509	Q9Y4D7	PLXD1_HUMAN	Q	509;509;72	ENSP00000317128:R509Q;ENSP00000376931:R509Q;ENSP00000426241:R72Q	ENSP00000317128:R509Q	R	-	2	0	PLXND1	130788215	0.033000	0.19621	0.016000	0.15963	0.772000	0.43724	0.364000	0.20325	0.225000	0.20959	0.407000	0.27541	CGG		TCGA-IB-7651-01A-11D-2154-08	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	1	0	1	8	28	0	8	0	9.999721e-01	1	99	0	8	2		0	0	0	0	0	2	1	9.912302e-01	7	28	0	8	2								-17.132700	1	1	121080	4	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.997655	0.990000	1	9.900000e-01	1
TMCC1	23023	broad.mit.edu	37	3	129373889	129373889	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373889G>A	ENST00000393238.3	-	5	1909	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TMCC1_ENST00000329333.5_Silent_p.I344I|TMCC1_ENST00000426664.2_Silent_p.I409I|TMCC1_ENST00000432054.2_Silent_p.I199I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1		PLXND1/TMCC1(4)	25					TCAAGTTCAAGATTTCATTCT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000393238.3	1	1	hg19	CCDS33855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	1	0	1	102	375	0	87	1	1	21	74	0	87	2		0	0	0	0	0	2	1	1	100	371	0	87	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMCC1	23023	broad.mit.edu	37	3	129389812	129389812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129389812G>A	ENST00000393238.3	-	4	1212	c.872C>T	c.(871-873)aCt>aTt	p.T291I	TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I|TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1		PLXND1/TMCC1(4)	25					CTGGAGGATAGTTTGGGCAGA	0.502000																								0							SO:0001583	missense			ENST00000393238.3	1	1	hg19	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360066	0.61403	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.49139	0.79;0.79;0.79	5.56	5.56	0.83823	.	0.133374	0.64402	N	0.000002	T	0.65450	0.2692	M	0.65975	2.015	0.52099	D	0.999945	D;D	0.61080	0.989;0.96	D;P	0.71656	0.974;0.761	T	0.63247	-0.6680	10	0.42905	T	0.14	-16.8923	14.6945	0.69110	0.0:0.0:0.8549:0.1451	.	112;291	B4DE04;O94876	.;TMCC1_HUMAN	I	291;177;112	ENSP00000376930:T291I;ENSP00000389892:T177I;ENSP00000327349:T112I	ENSP00000327349:T112I	T	-	2	0	TMCC1	130872502	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.208000	0.65203	2.778000	0.95560	0.591000	0.81541	ACT		TCGA-IB-7651-01A-11D-2154-08	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	1	0	1	148	609	0	122	1	9.999999e-01	18	74	0	122	2		0	0	0	0	0	2	1	1	147	598	0	122	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQSEC1	9922	broad.mit.edu	37	3	12957129	12957129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12957129G>A	ENST00000273221.4	-	7	2383	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1			24					TCCACCTTCTGCACCTGGGAC	0.602000																								0							SO:0001587	stop_gained			ENST00000273221.4	0	1	hg19	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.136507|8.136507	0.98672|0.98672	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.51702|.	0.1690|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48410|.	-0.9038|.	3|.	.|0.08599	.|T	.|0.76	.|.	17.6453|17.6453	0.88147|0.88147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	723|723;709;709	.|.	.|ENSP00000273221:Q723X	A|Q	-|-	2|1	0|0	IQSEC1|IQSEC1	12932129|12932129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.823000|7.823000	0.86660|0.86660	2.229000|2.229000	0.72834|0.72834	0.655000|0.655000	0.94253|0.94253	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	1	0	1	84	358	0	75	0	1	1	131	0	75	2		0	0	0	0	0	2	1	1	84	353	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQSEC1	9922	broad.mit.edu	37	3	12962091	12962091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12962091C>T	ENST00000273221.4	-	6	2117	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1			24					GATGCAGTAGCGCTGGCTGCG	0.632000																								0							SO:0001583	missense			ENST00000273221.4	1	1	hg19	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063487	0.93898	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.57907	0.37;0.37	4.59	4.59	0.56863	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	.	.	.	0.80722	D	1	P;D;P	0.89917	0.9;1.0;0.951	P;D;P	0.97110	0.765;1.0;0.818	T	0.78028	-0.2364	9	0.62326	D	0.03	.	17.3729	0.87383	0.0:1.0:0.0:0.0	.	620;620;634	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	634;620;620	ENSP00000273221:R634H;ENSP00000402299:R620H	ENSP00000273221:R634H	R	-	2	0	IQSEC1	12937091	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	7.721000	0.84768	2.104000	0.64026	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	1	0	1	77	383	0	89	1	1	10	114	0	89	2		0	0	0	0	0	2	1	1	73	380	0	89	2								-20.000000	1	1	121412	2	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRH	7200	broad.mit.edu	37	3	129695746	129695746	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129695746G>A	ENST00000302649.3	+	3	943	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TRH_ENST00000507066.1_Missense_Mutation_p.R135Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone			14					CATCCTGGCCGGCGCTCCCCC	0.632000													Esophageal Squamous(60;321 1330 17401 41911)											0							SO:0001583	missense			ENST00000302649.3	1	1	hg19	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924578	0.52653	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.51071	0.72;0.72	4.55	2.71	0.32032	.	0.175624	0.48767	D	0.000173	T	0.62816	0.2459	M	0.82323	2.585	0.37560	D	0.919025	D	0.89917	1.0	P	0.62560	0.904	T	0.65721	-0.6099	10	0.59425	D	0.04	-13.5612	6.7371	0.23415	0.1006:0.1783:0.7211:0.0	.	139	P20396	TRH_HUMAN	Q	139;135	ENSP00000303452:R139Q;ENSP00000426522:R135Q	ENSP00000303452:R139Q	R	+	2	0	TRH	131178436	0.974000	0.33945	1.000000	0.80357	0.284000	0.27059	1.012000	0.29924	0.440000	0.26502	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	1	0	1	83	396	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	83	392	0	71	2								-3.352671	1	1	121412	1	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQSEC1	9922	broad.mit.edu	37	3	12978092	12978092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12978092G>A	ENST00000273221.4	-	3	682	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1			24					CTGCGCAAGCGCTCGAAGTTC	0.577000																								0							SO:0001583	missense			ENST00000273221.4	1	1	hg19	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094182|4.094182	0.76870|0.76870	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.63417	.|-0.04;-0.04	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80497|0.80497	0.4634|0.4634	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.997;0.998	D|D	0.83975|0.83975	0.0329|0.0329	4|9	.|0.87932	.|D	.|0	.|.	17.558|17.558	0.87898|0.87898	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;156	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	V|C	156|156;142;142	.|ENSP00000273221:R156C;ENSP00000402299:R142C	.|ENSP00000273221:R156C	A|R	-|-	2|1	0|0	IQSEC1|IQSEC1	12953092|12953092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.317000|6.317000	0.72862|0.72862	2.366000|2.366000	0.80165|0.80165	0.462000|0.462000	0.41574|0.41574	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	1	0	1	23	134	0	37	1	9.997900e-01	2	81	0	37	2		0	0	0	0	0	2	1	9.999996e-01	23	133	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999605	0.990000	1	9.900000e-01	1
COL6A5	256076	broad.mit.edu	37	3	130095372	130095372	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130095372C>A	ENST00000432398.2	+	3	854	c.360C>A	c.(358-360)acC>acA	p.T120T	COL6A5_ENST00000265379.6_Silent_p.T120T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5			44					CTCATAGGACCTACTTCTCTG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000432398.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	21	58	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999993e-01	21	58	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
COL6A6	131873	broad.mit.edu	37	3	130285742	130285742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130285742C>A	ENST00000358511.6	+	4	1510	c.1479C>A	c.(1477-1479)taC>taA	p.Y493*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6			134					TCAATAAATACTCCAACAAGC	0.488000																								0							SO:0001587	stop_gained			ENST00000358511.6	0	1	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822826	0.96989	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.18	1.37	0.22104	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.033	0.36271	0.0:0.6915:0.0:0.3085	.	.	.	.	X	493	.	ENSP00000351310:Y493X	Y	+	3	2	COL6A6	131768432	0.091000	0.21658	0.011000	0.14972	0.541000	0.35023	0.641000	0.24720	-0.033000	0.13736	-0.254000	0.11334	TAC		TCGA-IB-7651-01A-11D-2154-08	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	1	108	436	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	107	425	0	127	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL6A6	131873	broad.mit.edu	37	3	130287198	130287198	+	Silent	SNP	C	C	T	rs72992282	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130287198C>T	ENST00000358511.6	+	5	2182	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	COL6A6_ENST00000453409.2_Silent_p.G717G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6			134					CCACCAAGGGCGCCCGGCCCA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000358511.6	1	1	hg19	CCDS46911.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	1	75	416	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1	75	408	0	122	2								-20.000000	1	1	120856	32	47	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL6A6	131873	broad.mit.edu	37	3	130292992	130292992	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130292992T>C	ENST00000358511.6	+	7	3201	c.3170T>C	c.(3169-3171)tTc>tCc	p.F1057S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6			134					CTGGGAACTTTCATAGGTGAA	0.453000																								0							SO:0001583	missense			ENST00000358511.6	1	1	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	0.928	-0.713765	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83673	-1.75;-1.75	5.15	-0.485	0.12067	von Willebrand factor, type A (3);	0.310046	0.28161	N	0.016375	T	0.71459	0.3342	M	0.64676	1.99	0.09310	N	1	B	0.25850	0.136	B	0.21151	0.033	T	0.53464	-0.8435	10	0.10636	T	0.68	.	4.4914	0.11815	0.4938:0.1419:0.0:0.3644	.	1057	A6NMZ7	CO6A6_HUMAN	S	1057	ENSP00000351310:F1057S;ENSP00000399236:F1057S	ENSP00000351310:F1057S	F	+	2	0	COL6A6	131775682	0.004000	0.15560	0.000000	0.03702	0.021000	0.10359	0.469000	0.22067	-0.240000	0.09696	-0.496000	0.04628	TTC		TCGA-IB-7651-01A-11D-2154-08	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	1	55	181	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	55	180	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3R4	30849	broad.mit.edu	37	3	130405110	130405110	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130405110C>T	ENST00000356763.3	-	15	3977	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4			77					TGAGGCCCGACTTTAAATCAT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000356763.3	1	1	hg19	CCDS3067.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	1	0	1	56	244	0	67	1	9.999112e-01	20	43	0	67	2		0	0	0	0	0	2	1	1	56	239	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3R4	30849	broad.mit.edu	37	3	130425901	130425901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130425901A>G	ENST00000356763.3	-	11	3169	c.2612T>C	c.(2611-2613)aTg>aCg	p.M871T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4			77					GGCCTGTGGCATGTTTGGTGG	0.438000																								0							SO:0001583	missense			ENST00000356763.3	0	1	hg19	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	A	5.512	0.279403	0.10458	.	.	ENSG00000196455	ENST00000356763	T	0.39056	1.1	5.22	4.07	0.47477	.	0.595751	0.18439	N	0.141191	T	0.21468	0.0517	N	0.08118	0	0.23076	N	0.998338	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.15066	T	0.55	-0.4871	10.7844	0.46397	0.9252:0.0:0.0748:0.0	.	871	Q99570	PI3R4_HUMAN	T	871	ENSP00000349205:M871T	ENSP00000349205:M871T	M	-	2	0	PIK3R4	131908591	0.959000	0.32827	0.072000	0.20136	0.684000	0.39900	4.342000	0.59341	0.837000	0.34925	0.377000	0.23210	ATG		TCGA-IB-7651-01A-11D-2154-08	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	0	0	0	6	207	0	31	0	6.470558e-01	1	72	0	31	2		0	0	0	0	0	2	1	9.624289e-01	6	201	0	31	2								-7.925361	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.360000	0.140000	1.000000	0.320000	0.411535	0.360000	0	2.300000e-01	5.500000e-01
PIK3R4	30849	broad.mit.edu	37	3	130435274	130435274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130435274G>A	ENST00000356763.3	-	9	2854	c.2297C>T	c.(2296-2298)gCc>gTc	p.A766V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4			77					CTGTGCTATGGCAGGATCCTC	0.418000																								0							SO:0001583	missense			ENST00000356763.3	1	1	hg19	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276871	0.59758	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.50548	0.94;0.91;0.78;0.74	5.21	5.21	0.72293	.	0.101966	0.64402	D	0.000002	T	0.45736	0.1357	L	0.54323	1.7	0.58432	D	0.999997	B	0.33883	0.43	B	0.30943	0.122	T	0.42327	-0.9458	10	0.37606	T	0.19	-7.1737	18.7681	0.91881	0.0:0.0:1.0:0.0	.	766	Q99570	PI3R4_HUMAN	V	766;125;125;125	ENSP00000349205:A766V;ENSP00000427302:A125V;ENSP00000424274:A125V;ENSP00000422767:A125V	ENSP00000349205:A766V	A	-	2	0	PIK3R4	131917964	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.659000	0.83766	2.439000	0.82584	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	1	0	1	73	377	0	98	1	9.991082e-01	2	54	0	98	2		0	0	0	0	0	2	1	1	72	365	0	97	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3R4	30849	broad.mit.edu	37	3	130454718	130454718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130454718C>A	ENST00000356763.3	-	3	1419	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4			77					GTTACCAATTCTCTGATACTG	0.318000																								0							SO:0001587	stop_gained			ENST00000356763.3	0	1	hg19	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	43	9.832098	0.99275	.	.	ENSG00000196455	ENST00000356763	.	.	.	5.48	5.48	0.80851	.	0.262537	0.42964	D	0.000632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-16.9242	15.2285	0.73369	0.0:0.8598:0.1402:0.0	.	.	.	.	X	288	.	ENSP00000349205:E288X	E	-	1	0	PIK3R4	131937408	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.138000	0.50570	2.732000	0.93576	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	1	0	1	67	295	0	83	0	9.993986e-01	1	50	0	83	2		0	0	0	0	0	2	1	1	66	293	0	83	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2C1	27032	broad.mit.edu	37	3	130656302	130656302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130656302G>A	ENST00000510168.1	+	6	905	c.355G>A	c.(355-357)Gtt>Att	p.V119I	ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1			39				Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTTGCCTTTGTTCAGGTAAG	0.333000									Hailey-Hailey disease				Esophageal Squamous(99;456 1443 27647 34099 42636)											0							SO:0001583	missense	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	ENST00000510168.1	0	1	hg19	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200581	0.58126	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000505072;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.38;-2.84;-2.84;-2.84;-2.84	5.94	5.94	0.96194	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	N	0.20766	0.605	0.58432	D	0.999995	P;P;B;P;B;B;P	0.40578	0.675;0.722;0.096;0.675;0.096;0.421;0.476	B;B;B;B;B;B;B	0.41946	0.254;0.371;0.196;0.254;0.163;0.163;0.252	T	0.82504	-0.0424	10	0.12430	T	0.62	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	153;114;153;119;153;119;119	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	I	103;64;103;153;114;119;119;103;103;119;119;119;119;119;118	ENSP00000423774:V103I;ENSP00000425320:V64I;ENSP00000421326:V103I;ENSP00000376914:V153I;ENSP00000432956:V114I;ENSP00000427461:V119I;ENSP00000424783:V119I;ENSP00000423330:V103I;ENSP00000422872:V103I;ENSP00000427625:V119I;ENSP00000329664:V119I;ENSP00000395809:V119I;ENSP00000352665:V119I;ENSP00000402677:V119I	ENSP00000329664:V119I	V	+	1	0	ATP2C1	132138992	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.386000	0.73186	2.816000	0.96949	0.561000	0.74099	GTT		TCGA-IB-7651-01A-11D-2154-08	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	0	0	0	5	193	0	38	1	9.687960e-01	10	243	0	38	2		0	0	0	0	0	2	1	9.349588e-01	5	189	0	38	2								-6.744593	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.330000	0.120000	1.000000	0.300000	0.383028	0.330000	0	2.100000e-01	5.200000e-01
ATP2C1	27032	broad.mit.edu	37	3	130675022	130675022	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130675022A>C	ENST00000510168.1	+	11	1381	c.831A>C	c.(829-831)atA>atC	p.I277I	ATP2C1_ENST00000504381.1_Splice_Site_p.I222I|ATP2C1_ENST00000428331.2_Splice_Site_p.I277I|ATP2C1_ENST00000328560.8_Splice_Site_p.I277I|ATP2C1_ENST00000359644.3_Splice_Site_p.I277I|ATP2C1_ENST00000507488.2_Splice_Site_p.I261I|ATP2C1_ENST00000504948.1_Splice_Site_p.I261I|ATP2C1_ENST00000513801.1_Splice_Site_p.I261I|ATP2C1_ENST00000505330.1_Splice_Site_p.I261I|ATP2C1_ENST00000508532.1_Splice_Site_p.I277I|ATP2C1_ENST00000393221.4_Splice_Site_p.I311I|ATP2C1_ENST00000422190.2_Splice_Site_p.I277I|ATP2C1_ENST00000533801.2_Splice_Site_p.I272I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1			39				Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGGTATAATAGGTAAGAGAA	0.338000									Hailey-Hailey disease				Esophageal Squamous(99;456 1443 27647 34099 42636)											0							SO:0001630	splice_region_variant	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	ENST00000510168.1	1	0	hg19	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578922	0.46006	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9621	0.53015	0.8702:0.0:0.0:0.1298	.	.	.	.	S	231	.	.	X	+	2	0	ATP2C1	132157712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.428000	0.34892	2.250000	0.74265	0.533000	0.62120	TAG		TCGA-IB-7651-01A-11D-2154-08	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	1	0	1	52	171	0	39	1	1	58	191	0	39	2		0	0	0	0	0	2	1	1	52	167	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2C1	27032	broad.mit.edu	37	3	130716497	130716497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130716497G>A	ENST00000510168.1	+	25	2841	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H	ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1			39				Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAACCTCCTCGCAACTGGAAA	0.343000									Hailey-Hailey disease				Esophageal Squamous(99;456 1443 27647 34099 42636)											0							SO:0001583	missense	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	ENST00000510168.1	1	1	hg19	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.566092|5.566092	0.96540|0.96540	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97791	.|-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.87|5.87	5.87|5.87	0.94306|0.94306	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99217|0.99217	0.9728|0.9728	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;0.999;1.0;1.0	D|D	0.98977|0.98977	1.0803|1.0803	5|10	.|0.72032	.|D	.|0.01	.|.	20.1991|20.1991	0.98252|0.98252	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|798;759;798;764;798;764;764	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	T|H	718;282|748;709;748;798;759;764;764;748;748;764;764;764;764;763	.|ENSP00000423774:R748H;ENSP00000425320:R709H;ENSP00000421326:R748H;ENSP00000376914:R798H;ENSP00000432956:R759H;ENSP00000427461:R764H;ENSP00000424783:R764H;ENSP00000423330:R748H;ENSP00000422872:R748H;ENSP00000329664:R764H;ENSP00000395809:R764H;ENSP00000352665:R764H;ENSP00000402677:R764H	.|ENSP00000329664:R764H	A|R	+|+	1|2	0|0	ATP2C1|ATP2C1	132199187|132199187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.861000|9.861000	0.99562|0.99562	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	1	0	1	90	467	0	98	1	1	66	325	0	98	2		0	0	0	0	0	2	1	1	89	464	0	98	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEK11	79858	broad.mit.edu	37	3	130851590	130851590	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130851590A>G	ENST00000510769.1	+	5	710	c.457A>G	c.(457-459)Agg>Ggg	p.R153G	NEK11_ENST00000510688.1_Splice_Site_p.R153G|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000383366.4_Splice_Site_p.R153G|NEK11_ENST00000507910.1_Splice_Site_p.R153G|NEK11_ENST00000412440.2_Splice_Site_p.R5G|NEK11_ENST00000511262.1_Splice_Site_p.R153G|NEK11_ENST00000356918.4_Splice_Site_p.R153G|NEK11_ENST00000429253.2_Splice_Site_p.R153G|NEK11_ENST00000508196.1_Splice_Site_p.R153G					NIMA-related kinase 11			33					CTTTTGTAGGAGGATACTTCA	0.274000																								0							SO:0001630	splice_region_variant			ENST00000510769.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	A	16.34	3.094369	0.56075	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;3.18;1.4;1.4	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236288	0.28964	N	0.013571	T	0.19087	0.0458	N	0.00885	-1.115	0.52099	D	0.999945	B;P;B;B;B;B;B	0.47762	0.242;0.9;0.304;0.284;0.096;0.117;0.02	B;P;B;B;B;B;B	0.47645	0.093;0.553;0.114;0.175;0.042;0.071;0.028	T	0.46005	-0.9222	10	0.62326	D	0.03	.	13.7638	0.62981	1.0:0.0:0.0:0.0	.	153;153;5;153;153;153;153	Q8NG66-3;E9PHI8;B4DDN2;B4DM56;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;.;.;NEK11_HUMAN;.	G	153;153;153;153;153;153;5;153;153	ENSP00000421549:R153G;ENSP00000397180:R153G;ENSP00000349389:R153G;ENSP00000423458:R153G;ENSP00000425114:R153G;ENSP00000372857:R153G;ENSP00000411888:R5G;ENSP00000426662:R153G;ENSP00000421851:R153G	ENSP00000349389:R153G	R	+	1	2	NEK11	132334280	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.431000	0.34925	2.202000	0.70862	0.528000	0.53228	AGG		TCGA-IB-7651-01A-11D-2154-08	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	0	0	1	6	42	0	22	1	5.730361e-01	8	6	0	22	2		0	0	0	0	0	2	1	9.637814e-01	6	40	0	22	2								-6.048444	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.630000	1.000000	1.000000	0.966489	0.990000	1	9.700000e-01	1
NEK11	79858	broad.mit.edu	37	3	130871281	130871281	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130871281G>A	ENST00000383366.4	+	8	990	c.697G>A	c.(697-699)Gct>Act	p.A233T	NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000412440.2_Missense_Mutation_p.A85T|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T|NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T	NM_024800.4	NP_079076.3			NIMA-related kinase 11	p.A233P(1)		33					TCATGCATTCGCTGGCTCCAA	0.358000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000383366.4	1	1	hg19	CCDS3069.1	.	.	.	.	.	.	.	.	.	.	G	3.217	-0.160429	0.06502	.	.	ENSG00000114670	ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.91	-3.99	0.04069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.524667	0.17378	N	0.176402	T	0.27731	0.0682	N	0.05031	-0.125	0.26347	N	0.977277	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.001	T	0.25950	-1.0117	10	0.10377	T	0.69	.	4.8796	0.13672	0.4074:0.0:0.2913:0.3013	.	233;85;233;233;233	Q8NG66-3;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	T	233;233;233;233;233;85;233;233	ENSP00000397180:A233T;ENSP00000349389:A233T;ENSP00000423458:A233T;ENSP00000425114:A233T;ENSP00000372857:A233T;ENSP00000411888:A85T;ENSP00000426662:A233T;ENSP00000421851:A233T	ENSP00000349389:A233T	A	+	1	0	NEK11	132353971	0.005000	0.15991	0.281000	0.24762	0.055000	0.15305	-0.415000	0.07106	-1.039000	0.03275	-0.787000	0.03339	GCT		TCGA-IB-7651-01A-11D-2154-08	NEK11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356755.1	1	0	1	114	439	0	75	1	7.817318e-01	3	10	0	75	2		0	0	0	0	0	2	1	1	113	435	0	75	2								-20.000000	1	1	121410	9	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEK11	79858	broad.mit.edu	37	3	130992362	130992362	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130992362A>C	ENST00000510769.1	+	13	1600	c.1347A>C	c.(1345-1347)ccA>ccC	p.P449P	NEK11_ENST00000429253.2_Silent_p.P554P|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000412440.2_Silent_p.P370P|NEK11_ENST00000383366.4_Silent_p.P554P|NEK11_ENST00000508196.1_Silent_p.P554P					NIMA-related kinase 11			33					ACATGTCCCCAGGACCACCAA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000510769.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	1	0	1	36	202	0	46	1	4.132463e-01	4	5	0	46	2		0	0	0	0	0	2	1	1	34	200	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
NUDT16	131870	broad.mit.edu	37	3	131102014	131102014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131102014C>T	ENST00000521288.1	+	3	448	c.417C>T	c.(415-417)ggC>ggT	p.G139G	RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000359850.3_Silent_p.G106G|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000537561.1_Silent_p.G93G			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16			7					AGGTGCTGGGCCTGGTGCGAG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000521288.1	1	1	hg19	CCDS3070.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	1	0	1	76	360	0	69	1	1	44	168	0	69	2		0	0	0	0	0	2	1	1	75	351	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPNE4	131034	broad.mit.edu	37	3	131261625	131261625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131261625G>T	ENST00000512055.1	-	19	3441	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M|CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M|CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M			Q96A23	CPNE4_HUMAN	copine IV			39					AGGATCAGCAGGATGAAGTAT	0.552000																								0							SO:0001583	missense			ENST00000512055.1	1	1	hg19	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537760	0.65085	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.19	5.19	0.71726	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.81807	-0.0763	10	0.87932	D	0	-12.4491	11.784	0.52032	0.1271:0.0:0.8729:0.0	.	457;439	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	439;439;457;439;457	ENSP00000421705:L439M;ENSP00000411904:L439M;ENSP00000424853:L457M;ENSP00000423811:L439M;ENSP00000421646:L457M	ENSP00000411904:L439M	L	-	1	2	CPNE4	132744315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.661000	0.61518	2.437000	0.82529	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	1	0	1	58	210	0	68	0	4.838048e-02	0	2	0	68	2		0	0	0	0	0	2	1	1	58	209	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPNE4	131034	broad.mit.edu	37	3	131274360	131274360	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131274360C>A	ENST00000512055.1	-	16	3223	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M|CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M			Q96A23	CPNE4_HUMAN	copine IV			39					TGGAGGTATCCTGGCGCCAAA	0.418000																								0							SO:0001583	missense			ENST00000512055.1	1	1	hg19	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916781	0.73098	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.51	5.51	0.81932	von Willebrand factor, type A (1);Copine (1);	0.198870	0.53938	D	0.000053	T	0.55289	0.1911	M	0.90019	3.08	0.50313	D	0.999867	P;D	0.58268	0.745;0.982	P;P	0.56788	0.747;0.806	T	0.65582	-0.6133	10	0.87932	D	0	-26.6481	18.1887	0.89800	0.0:1.0:0.0:0.0	.	384;366	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	366;366;384;366;384	ENSP00000421705:R366M;ENSP00000411904:R366M;ENSP00000424853:R384M;ENSP00000423811:R366M;ENSP00000421646:R384M	ENSP00000411904:R366M	R	-	2	0	CPNE4	132757050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.207000	0.42788	2.580000	0.87095	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	1	0	1	22	107	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	9.999990e-01	22	102	0	35	2								-2.775803	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999913	0.990000	1	9.900000e-01	1
DNAJC13	23317	broad.mit.edu	37	3	132169692	132169692	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132169692G>A	ENST00000260818.6	+	6	785		c.e6+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13			34					TAGTAGATTGGTAAGTACTAT	0.303000																								0							SO:0001630	splice_region_variant			ENST00000260818.6	1	1	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540277	0.85917	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133652382	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.593000	0.98250	2.734000	0.93682	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	1	0	1	55	231	0	35	0	0	0	1	0	35	2		0	0	0	0	0	2	1	1	55	225	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJC13	23317	broad.mit.edu	37	3	132180039	132180039	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132180039A>C	ENST00000260818.6	+	15	1951	c.1703A>C	c.(1702-1704)aAa>aCa	p.K568T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13			34					ACCCTTTTTAAACTTTTTCAG	0.393000																								0							SO:0001583	missense			ENST00000260818.6	1	1	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324850	0.81580	.	.	ENSG00000138246	ENST00000260818	T	0.37584	1.19	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.77103	2.36	0.58432	D	0.999998	P;P	0.47302	0.893;0.759	B;B	0.43536	0.423;0.202	T	0.54563	-0.8275	10	0.62326	D	0.03	.	15.7657	0.78126	1.0:0.0:0.0:0.0	.	568;568	A7E2Y5;O75165	.;DJC13_HUMAN	T	568	ENSP00000260818:K568T	ENSP00000260818:K568T	K	+	2	0	DNAJC13	133662729	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.526000	0.81920	2.187000	0.69744	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	1	0	1	78	363	0	79	1	9.999636e-01	14	57	0	79	2		0	0	0	0	0	2	1	1	77	358	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAD11	84129	broad.mit.edu	37	3	132277901	132277901	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132277901C>A	ENST00000264990.6	-	20	3228	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S|ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11			36					GGTCCATCTGCTAAACGCAAA	0.458000																								0							SO:0001583	missense			ENST00000264990.6	1	1	hg19	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972384	0.74246	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96168	-3.93;-3.93;-3.93	5.39	5.39	0.77823	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98485	0.9495	H	0.95645	3.7	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.99282	1.0896	9	0.59425	D	0.04	.	17.9556	0.89068	0.0:1.0:0.0:0.0	.	753	Q709F0	ACD11_HUMAN	S	649;753;278	ENSP00000347636:A649S;ENSP00000264990:A753S;ENSP00000446263:A278S	ENSP00000264990:A753S	A	-	1	0	ACAD11	133760591	1.000000	0.71417	0.961000	0.40146	0.087000	0.18053	6.602000	0.74141	2.537000	0.85549	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	1	0	1	58	202	0	47	0	9.615196e-01	1	20	0	47	2		0	0	0	0	0	2	1	1	58	198	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAD11	84129	broad.mit.edu	37	3	132294689	132294689	+	Missense_Mutation	SNP	G	G	A	rs147225179		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132294689G>A	ENST00000264990.6	-	17	2899	c.1928C>T	c.(1927-1929)gCg>gTg	p.A643V	ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11			36					AGCGCGTTCCGCCAAACCTAC	0.463000																								0							SO:0001583	missense			ENST00000264990.6	1	1	hg19	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.493939	0.96339	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.97186	-4.28;-4.28	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98748	0.9579	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99701	1.1004	9	0.87932	D	0	.	18.353	0.90344	0.0:0.0:1.0:0.0	.	643	Q709F0	ACD11_HUMAN	V	643;168	ENSP00000264990:A643V;ENSP00000446263:A168V	ENSP00000264990:A643V	A	-	2	0	ACAD11	133777379	1.000000	0.71417	0.831000	0.32960	0.967000	0.64934	9.033000	0.93741	2.615000	0.88500	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	0	0	1	73	279	1	73	0	8.967492e-01	1	23	1	73	3		0	0	0	0	0	2	1	1	73	274	1	73	16								-3.236097	1	1	121412	3	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAD11	84129	broad.mit.edu	37	3	132358437	132358437	+	Silent	SNP	G	G	A	rs144758147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132358437G>A	ENST00000264990.6	-	5	1572	c.601C>T	c.(601-603)Cta>Tta	p.L201L	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Silent_p.L201L|ACAD11_ENST00000355458.3_Silent_p.L201L	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11			36					CACTCCGATAGCTGTTGCATG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000264990.6	1	1	hg19	CCDS3074.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	1	0	1	47	217	0	64	1	6.597076e-01	3	9	0	64	2		0	0	0	0	0	2	1	1	46	212	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBA5	79876	broad.mit.edu	37	3	132394147	132394147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132394147G>T	ENST00000356232.4	+	9	1940	c.868G>T	c.(868-870)Gat>Tat	p.D290Y	UBA5_ENST00000264991.4_Missense_Mutation_p.D234Y|UBA5_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y|UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5			16					TGCAATGCAGGATTTTTTTCC	0.323000																								0							SO:0001583	missense			ENST00000356232.4	1	1	hg19	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745354	0.89663	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.78	5.78	0.91487	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.091169	0.64402	D	0.000001	T	0.69070	0.3070	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76293	-0.3012	10	0.54805	T	0.06	-31.1863	19.994	0.97377	0.0:0.0:1.0:0.0	.	290;290	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	Y	234;290;290;290;234	ENSP00000264991:D234Y;ENSP00000348565:D290Y;ENSP00000417879:D290Y;ENSP00000424984:D290Y;ENSP00000418807:D234Y	ENSP00000264991:D234Y	D	+	1	0	UBA5	133876837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.397000	0.97276	2.716000	0.92895	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	0	0	0	11	282	0	61	1	9.094997e-01	9	101	0	61	2		0	0	0	0	0	2	1	9.983566e-01	11	280	0	59	2								-4.071371	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.460000	0.240000	1.000000	0.440000	0.502984	0.460000	0	3.400000e-01	6.400000e-01
NPHP3	27031	broad.mit.edu	37	3	132423136	132423136	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132423136A>C	ENST00000337331.5	-	9	1516	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	NPHP3_ENST00000476742.1_5'Flank|NPHP3_ENST00000326682.8_Missense_Mutation_p.F477C	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)			42					AACATCACCAAAATCATCTTC	0.413000																								0							SO:0001583	missense			ENST00000337331.5	1	1	hg19	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246680	0.59103	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91577	-2.87;-2.75	5.77	1.57	0.23409	.	0.342467	0.35151	N	0.003406	D	0.82861	0.5129	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.73023	-0.4113	10	0.34782	T	0.22	-13.3143	6.0096	0.19567	0.7074:0.0:0.1372:0.1554	.	477	Q7Z494	NPHP3_HUMAN	C	477	ENSP00000319909:F477C;ENSP00000338766:F477C	ENSP00000319909:F477C	F	-	2	0	NPHP3	133905826	0.997000	0.39634	0.333000	0.25482	0.987000	0.75469	2.987000	0.49378	0.548000	0.28955	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	1	0	1	240	1058	0	253	1	9.203964e-01	4	17	0	253	2		0	0	0	0	0	2	1	1	236	1034	0	253	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BFSP2	8419	broad.mit.edu	37	3	133118967	133118967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133118967G>A	ENST00000302334.2	+	1	129	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin			13					GCCCACCAGTGCCAGCTCCAG	0.617000																								0							SO:0001583	missense			ENST00000302334.2	1	1	hg19	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402705	0.25291	.	.	ENSG00000170819	ENST00000302334	D	0.83250	-1.7	5.28	-8.74	0.00838	.	1.046730	0.07509	N	0.908564	T	0.62974	0.2472	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48352	-0.9043	10	0.30854	T	0.27	-0.3133	0.5744	0.00701	0.3791:0.1489:0.203:0.269	.	14	Q13515	BFSP2_HUMAN	T	14	ENSP00000304987:A14T	ENSP00000304987:A14T	A	+	1	0	BFSP2	134601657	0.000000	0.05858	0.001000	0.08648	0.575000	0.36095	-1.234000	0.02931	-1.352000	0.02194	-0.379000	0.06801	GCC		TCGA-IB-7651-01A-11D-2154-08	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1	1	0	1	99	449	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	96	441	0	98	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BFSP2	8419	broad.mit.edu	37	3	133119358	133119358	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133119358C>A	ENST00000302334.2	+	1	520	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin			13					GAGAGCAAAGCCACACGCTCG	0.612000																								0							SO:0001583	missense			ENST00000302334.2	0	1	hg19	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251923	0.80135	.	.	ENSG00000170819	ENST00000302334	D	0.89343	-2.5	5.84	4.96	0.65561	Filament (1);	0.201932	0.34906	N	0.003600	D	0.90920	0.7146	L	0.47190	1.495	0.43766	D	0.996284	D	0.58620	0.983	P	0.61658	0.892	D	0.88294	0.2945	10	0.16896	T	0.51	-15.2148	16.8975	0.86104	0.0:0.8717:0.1283:0.0	.	144	Q13515	BFSP2_HUMAN	D	144	ENSP00000304987:A144D	ENSP00000304987:A144D	A	+	2	0	BFSP2	134602048	1.000000	0.71417	0.203000	0.23512	0.944000	0.59088	6.969000	0.76092	1.454000	0.47793	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1	0	0	0	43	163	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	42	161	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOPBP1	11073	broad.mit.edu	37	3	133320197	133320197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133320197G>A	ENST00000260810.5	-	28	4597	c.4466C>T	c.(4465-4467)gCt>gTt	p.A1489V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1			40					AAATGAAATAGCTTCTGGTAG	0.313000								Other conserved DNA damage response genes					Ovarian(21;193 658 4424 15423 17362)											0							SO:0001583	missense			ENST00000260810.5	0	1	hg19	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032347	0.75504	.	.	ENSG00000163781	ENST00000260810	T	0.13657	2.57	5.6	5.6	0.85130	.	0.098068	0.64402	D	0.000001	T	0.13927	0.0337	L	0.48642	1.525	0.58432	D	0.999997	P	0.46987	0.888	B	0.33568	0.166	T	0.02617	-1.1133	10	0.49607	T	0.09	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	1489	Q92547	TOPB1_HUMAN	V	1489	ENSP00000260810:A1489V	ENSP00000260810:A1489V	A	-	2	0	TOPBP1	134802887	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	6.952000	0.75989	2.627000	0.88993	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	0	0	0	20	53	0	11	1	9.999974e-01	20	49	0	11	2		0	0	0	0	0	2	1	9.999986e-01	20	53	0	11	2								-17.783960	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TOPBP1	11073	broad.mit.edu	37	3	133337217	133337217	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133337217A>G	ENST00000260810.5	-	21	3563	c.3432T>C	c.(3430-3432)atT>atC	p.I1144I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1			40					GGTCATCCCAAATGATCTGTT	0.458000								Other conserved DNA damage response genes					Ovarian(21;193 658 4424 15423 17362)											0							SO:0001819	synonymous_variant			ENST00000260810.5	1	1	hg19	CCDS46919.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	1	0	1	126	466	0	121	1	9.999674e-01	15	42	0	121	2		0	0	0	0	0	2	1	1	126	459	0	121	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOPBP1	11073	broad.mit.edu	37	3	133341974	133341974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133341974C>T	ENST00000260810.5	-	19	3270	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1			40					TTTGATGGTGCTGACTCTTTA	0.274000								Other conserved DNA damage response genes					Ovarian(21;193 658 4424 15423 17362)											0							SO:0001583	missense			ENST00000260810.5	0	1	hg19	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	0.731	-0.779765	0.02929	.	.	ENSG00000163781	ENST00000260810	T	0.11495	2.77	5.6	2.83	0.33086	.	0.688503	0.15591	N	0.254401	T	0.08537	0.0212	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.43718	-0.9374	10	0.12430	T	0.62	.	6.0027	0.19529	0.0:0.6363:0.1375:0.2262	.	960;1047	A0AV47;Q92547	.;TOPB1_HUMAN	T	1047	ENSP00000260810:A1047T	ENSP00000260810:A1047T	A	-	1	0	TOPBP1	134824664	0.000000	0.05858	0.014000	0.15608	0.030000	0.12068	0.298000	0.19120	0.300000	0.22699	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	1	0	1	23	179	0	20	1	9.928179e-01	12	52	0	20	2		0	0	0	0	0	2	1	9.999994e-01	22	175	0	20	2								-11.059060	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.890000	1.000000	1.000000	0.993707	0.990000	1	9.900000e-01	1
TOPBP1	11073	broad.mit.edu	37	3	133375563	133375563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133375563G>T	ENST00000260810.5	-	5	633	c.502C>A	c.(502-504)Ctt>Att	p.L168I	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1			40					CAAGAGGGAAGCAAAATAGGT	0.323000								Other conserved DNA damage response genes					Ovarian(21;193 658 4424 15423 17362)											0							SO:0001583	missense			ENST00000260810.5	1	1	hg19	CCDS46919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195804|4.195804	0.78902|0.78902	.|.	.|.	ENSG00000163781|ENSG00000163781	ENST00000508524|ENST00000260810	.|T	.|0.79247	.|-1.25	5.33|5.33	5.33|5.33	0.75918|0.75918	.|BRCT (4);	.|0.071226	.|0.56097	.|D	.|0.000021	.|D	.|0.87071	.|0.6086	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.99999|0.99999	.|D	.|0.71674	.|0.998	.|D	.|0.68765	.|0.96	.|D	.|0.85799	.|0.1372	.|10	.|0.37606	.|T	.|0.19	.|.	19.0309|19.0309	0.92957|0.92957	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168	.|Q92547	.|TOPB1_HUMAN	X|I	12|168	.|ENSP00000260810:L168I	.|ENSP00000260810:L168I	C|L	-|-	3|1	2|0	TOPBP1|TOPBP1	134858253|134858253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.582000|5.582000	0.67477|0.67477	2.496000|2.496000	0.84212|0.84212	0.563000|0.563000	0.77884|0.77884	TGC|CTT		TCGA-IB-7651-01A-11D-2154-08	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	0	0	1	87	374	0	87	1	9.879896e-01	11	21	0	87	2		0	0	0	0	0	2	1	1	86	366	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TF	7018	broad.mit.edu	37	3	133473446	133473446	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133473446G>A	ENST00000402696.3	+	4	918	c.433G>A	c.(433-435)Gct>Act	p.A145T	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.A18T	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin			49				Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AGGCAGGTCCGCTGGGTGGAA	0.527000																								0							SO:0001583	missense			ENST00000402696.3	1	0	hg19	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561710	0.65538	.	.	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.40225	1.14;1.04;1.14	5.25	3.44	0.39384	.	0.092655	0.85682	D	0.000000	T	0.67135	0.2861	H	0.96970	3.915	0.51767	D	0.999938	D	0.56287	0.975	P	0.54590	0.756	T	0.74093	-0.3776	10	0.72032	D	0.01	-22.3783	9.3828	0.38325	0.0762:0.0:0.7801:0.1437	.	145	P02787	TRFE_HUMAN	T	145;18;18	ENSP00000385834:A145T;ENSP00000419338:A18T;ENSP00000264998:A18T	ENSP00000264998:A18T	A	+	1	0	TF	134956136	1.000000	0.71417	0.099000	0.21106	0.398000	0.30690	5.236000	0.65354	0.777000	0.33496	-0.254000	0.11334	GCT		TCGA-IB-7651-01A-11D-2154-08	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	0	0	1	210	933	2	196		0	0	0	2	196	2		0	0	0	0	0	2	1	1	208	921	2	195	27								-20.000000	1	0	121412	3	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB6B	51560	broad.mit.edu	37	3	133547691	133547691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133547691C>T	ENST00000285208.4	-	8	917	c.568G>A	c.(568-570)Gac>Aac	p.D190N	RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family			11					AGCTTGATGTCGATCACTGCA	0.602000																								0							SO:0001583	missense			ENST00000285208.4	1	1	hg19	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945765	0.73672	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858	T;T;T	0.61627	0.09;0.09;0.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.29908	0.895	0.80722	D	1	B;B	0.22541	0.03;0.071	B;B	0.17098	0.014;0.017	T	0.33548	-0.9864	10	0.36615	T	0.2	-26.509	19.1662	0.93559	0.0:1.0:0.0:0.0	.	177;190	B7Z337;Q9NRW1	.;RAB6B_HUMAN	N	190;190;177	ENSP00000285208:D190N;ENSP00000437797:D190N;ENSP00000419381:D177N	ENSP00000285208:D190N	D	-	1	0	RAB6B	135030381	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	4.380000	0.59581	2.831000	0.97527	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1	1	0	1	207	941	0	178	1	9.999793e-01	22	48	0	178	2		0	0	0	0	0	2	1	1	205	927	0	176	2								-20.000000	1	1	121408	2	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP210	23225	broad.mit.edu	37	3	13361358	13361358	+	Missense_Mutation	SNP	G	G	A	rs145275394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13361358G>A	ENST00000254508.5	-	37	5370	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa			66	all_neural(104;0.187)				CAGGGTAGTGGACAGAGGCCC	0.612000																								0							SO:0001583	missense			ENST00000254508.5	1	1	hg19	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953438	0.53293	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.66	4.79	0.61399	.	0.064020	0.64402	D	0.000005	T	0.11153	0.0272	M	0.72118	2.19	0.53005	D	0.999968	P	0.35656	0.514	B	0.34590	0.186	T	0.01786	-1.1274	10	0.66056	D	0.02	-31.8634	14.5805	0.68284	0.0699:0.0:0.9301:0.0	.	1763	Q8TEM1	PO210_HUMAN	F	1763	ENSP00000254508:S1763F	ENSP00000254508:S1763F	S	-	2	0	NUP210	13336358	1.000000	0.71417	0.997000	0.53966	0.729000	0.41735	8.986000	0.93492	1.400000	0.46741	-0.136000	0.14681	TCC		TCGA-IB-7651-01A-11D-2154-08	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	1	0	1	59	304	0	63	1	9.997336e-01	7	58	0	63	2		0	0	0	0	0	2	1	1	58	299	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO2A1	6578	broad.mit.edu	37	3	133654654	133654654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133654654G>A	ENST00000310926.4	-	13	2051	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A517V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1			30				Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GTAGGCGCAGGCCCCTCGCCT	0.597000																								0							SO:0001583	missense			ENST00000310926.4	1	1	hg19	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	1.617	-0.522622	0.04141	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.44881	0.91;0.91	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.205268	0.50627	D	0.000101	T	0.56790	0.2009	M	0.78344	2.41	0.45704	D	0.998616	D;D	0.59767	0.978;0.986	P;P	0.58077	0.832;0.765	T	0.52041	-0.8628	10	0.14656	T	0.56	.	13.5921	0.61966	0.076:0.0:0.924:0.0	.	517;593	E7EU40;Q92959	.;SO2A1_HUMAN	V	593;517	ENSP00000311291:A593V;ENSP00000418893:A517V	ENSP00000311291:A593V	A	-	2	0	SLCO2A1	135137344	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.218000	0.58554	2.802000	0.96397	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	1	0	1	26	139	0	42	0	9.993770e-01	0	66	0	42	2		0	0	0	0	0	2	1	1	25	138	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999917	0.990000	1	9.900000e-01	1
SLCO2A1	6578	broad.mit.edu	37	3	133674026	133674026	+	Missense_Mutation	SNP	G	G	A	rs141264634	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133674026G>A	ENST00000310926.4	-	4	682	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Intron	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1			30				Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GCCTGCAAGCGGCTGTTGTTC	0.632000																								0							SO:0001583	missense			ENST00000310926.4	1	1	hg19	CCDS3084.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.88	1.770573	0.31320	.	.	ENSG00000174640	ENST00000310926	T	0.39997	1.05	5.5	-1.39	0.08997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.303740	0.01346	N	0.011720	T	0.24122	0.0584	N	0.02539	-0.55	0.24042	N	0.996072	P	0.52170	0.951	P	0.47645	0.553	T	0.07751	-1.0756	10	0.56958	D	0.05	.	4.404	0.11400	0.0672:0.2301:0.3555:0.3473	.	137	Q92959	SO2A1_HUMAN	C	137	ENSP00000311291:R137C	ENSP00000311291:R137C	R	-	1	0	SLCO2A1	135156716	0.022000	0.18835	0.035000	0.18076	0.028000	0.11728	0.087000	0.14958	-0.253000	0.09514	-0.502000	0.04539	CGC		TCGA-IB-7651-01A-11D-2154-08	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	1	0	1	42	163	0	26	0	9.994881e-01	0	48	0	26	2		0	0	0	0	0	2	1	1	41	159	0	26	2								-20.000000	1	1	121412	8	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP210	23225	broad.mit.edu	37	3	13381381	13381381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13381381C>A	ENST00000254508.5	-	25	3526	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa			66	all_neural(104;0.187)				ccttgccGGTCTCTGCATCCA	0.592000																								0							SO:0001583	missense			ENST00000254508.5	1	1	hg19	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140653	0.21205	.	.	ENSG00000132182	ENST00000254508	T	0.43688	0.94	5.19	3.38	0.38709	Bacterial Ig-like, group 2 (2);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.28740	0.885	0.50313	D	0.999862	D	0.69078	0.997	D	0.66497	0.944	T	0.35699	-0.9778	10	0.11794	T	0.64	-27.8704	5.6999	0.17877	0.0:0.6331:0.1434:0.2235	.	1148	Q8TEM1	PO210_HUMAN	D	1148	ENSP00000254508:E1148D	ENSP00000254508:E1148D	E	-	3	2	NUP210	13356381	1.000000	0.71417	0.880000	0.34516	0.450000	0.32258	0.943000	0.29030	0.574000	0.29417	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	1	0	1	192	605	0	138	1	9.997833e-01	8	33	0	138	2		0	0	0	0	0	2	1	1	188	596	0	137	2								-5.981383	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMOTL2	51421	broad.mit.edu	37	3	134080624	134080624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134080624C>T	ENST00000422605.2	-	6	1471	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	AMOTL2_ENST00000513145.1_Silent_p.E435E|AMOTL2_ENST00000249883.5_Silent_p.E435E|AMOTL2_ENST00000514516.1_Silent_p.E493E			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2			19					GCTCCAGCTTCTCTTGCTCCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000422605.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	1	0	1	11	50	0	14	1	9.797455e-01	7	27	0	14	2		0	0	0	0	0	2	1	9.987443e-01	11	49	0	14	2								-19.969820	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998312	0.990000	1	9.900000e-01	1
AMOTL2	51421	broad.mit.edu	37	3	134084677	134084677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134084677C>T	ENST00000422605.2	-	5	1427	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000514516.1_Missense_Mutation_p.A479T|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T|AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2			19					AGCAGCTTGGCCACCATGTCC	0.567000																								0							SO:0001583	missense			ENST00000422605.2	1	1	hg19		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.6	4.311178	0.81358	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.76	4.76	0.60689	.	0.123656	0.56097	D	0.000030	T	0.31702	0.0805	L	0.52573	1.65	0.58432	D	0.99999	D;D;D	0.56521	0.975;0.975;0.976	P;P;P	0.49799	0.591;0.591;0.622	T	0.01904	-1.1250	10	0.39692	T	0.17	-17.4922	12.9886	0.58606	0.1614:0.8386:0.0:0.0	.	421;421;479	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	T	421;421;479;421	ENSP00000249883:A421T;ENSP00000409999:A421T;ENSP00000424765:A479T;ENSP00000425475:A421T	ENSP00000249883:A421T	A	-	1	0	AMOTL2	135567367	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.032000	0.64140	2.465000	0.83290	0.455000	0.32223	GCC		TCGA-IB-7651-01A-11D-2154-08	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	1	0	1	80	430	0	104	1	9.999283e-01	23	53	0	104	2		0	0	0	0	0	2	1	1	80	422	0	103	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP210	23225	broad.mit.edu	37	3	13419017	13419017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13419017C>T	ENST00000254508.5	-	9	1173	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa			66	all_neural(104;0.187)				TTCATACAGGCGGCCGGTCTC	0.567000																								0							SO:0001583	missense			ENST00000254508.5	1	1	hg19	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804583	0.31869	.	.	ENSG00000132182	ENST00000254508	T	0.05649	3.41	4.93	4.04	0.47022	.	0.111045	0.64402	N	0.000013	T	0.08179	0.0204	M	0.62016	1.91	0.51482	D	0.999925	B;B	0.32128	0.131;0.357	B;B	0.23716	0.042;0.048	T	0.08994	-1.0695	10	0.51188	T	0.08	.	12.0113	0.53289	0.0:0.9134:0.0:0.0866	.	364;364	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	H	364	ENSP00000254508:R364H	ENSP00000254508:R364H	R	-	2	0	NUP210	13394017	1.000000	0.71417	0.993000	0.49108	0.029000	0.11900	5.529000	0.67135	1.040000	0.40099	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	1	0	1	136	744	0	185	1	9.780675e-01	6	29	0	185	2		0	0	0	0	0	2	1	1	135	730	0	183	2								-20.000000	1	1	121412	73	51	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP63	80254	broad.mit.edu	37	3	134226043	134226043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134226043G>A	ENST00000337090.3	+	3	310	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000383229.3_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000606977.1_Missense_Mutation_p.R46H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa			27					TGGGAAGGACGTACACATGCT	0.388000																								0							SO:0001583	missense			ENST00000337090.3	1	1	hg19	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993294	0.54041	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.24538	1.93;1.93;1.93;1.93;1.93;1.85;1.93	5.25	2.9	0.33743	.	0.127443	0.53938	D	0.000052	T	0.11367	0.0277	N	0.08118	0	0.21499	N	0.999661	P;P;B;P	0.50272	0.916;0.933;0.098;0.567	B;B;B;B	0.38428	0.273;0.265;0.04;0.102	T	0.11012	-1.0605	10	0.72032	D	0.01	-7.3674	8.4607	0.32925	0.835:0.0:0.165:0.0	.	46;46;46;46	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	H	46	ENSP00000328382:R46H;ENSP00000346432:R46H;ENSP00000424626:R46H;ENSP00000336524:R46H;ENSP00000372716:R46H;ENSP00000423225:R46H;ENSP00000426129:R46H	ENSP00000328382:R46H	R	+	2	0	CEP63	135708733	1.000000	0.71417	0.983000	0.44433	0.840000	0.47671	4.443000	0.59994	0.416000	0.25844	-0.302000	0.09304	CGT		TCGA-IB-7651-01A-11D-2154-08	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	1	0	1	81	334	0	68	1	9.999950e-01	21	54	0	68	2		0	0	0	0	0	2	1	1	81	319	0	68	2								-3.318794	1	1	121412	10	44	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KY	339855	broad.mit.edu	37	3	134322952	134322952	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322952G>A	ENST00000423778.2	-	11	1516	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	KY_ENST00000508956.1_Silent_p.S464S|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase			21					CCTCCTCCACGCTGAAGCTGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000423778.2	1	1	hg19	CCDS46920.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	1	0	1	21	95	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.999983e-01	20	92	0	18	2								-20.000000	1	0	120998	5	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999938	0.990000	1	9.900000e-01	1
KY	339855	broad.mit.edu	37	3	134322979	134322979	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322979G>A	ENST00000423778.2	-	11	1489	c.1428C>T	c.(1426-1428)agC>agT	p.S476S	KY_ENST00000508956.1_Silent_p.S455S|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase			21					AGCGCCCGTCGCTGGTGTGGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000423778.2	0	1	hg19	CCDS46920.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	1	0	1	10	89	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.970820e-01	10	87	0	16	2								-16.849140	1	0	120944	1	23	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.630000	1.000000	1.000000	0.956282	0.990000	1	8.900000e-01	1
KY	339855	broad.mit.edu	37	3	134362215	134362215	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134362215A>G	ENST00000423778.2	-	3	266	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KY_ENST00000508956.1_Intron|KY_ENST00000503669.1_Silent_p.L69L	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase			21					TTCTCCACCAAGTTTTCTATT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000423778.2	1	1	hg19	CCDS46920.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	1	0	1	31	130	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	31	128	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PPP2R3A	5523	broad.mit.edu	37	3	135721855	135721855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135721855C>A	ENST00000264977.3	+	2	2132	c.1515C>A	c.(1513-1515)agC>agA	p.S505R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha			31					ATTCCAGTAGCCAGGAAGAGA	0.343000																								0							SO:0001583	missense			ENST00000264977.3	1	1	hg19	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534559	0.04082	.	.	ENSG00000073711	ENST00000264977	T	0.05513	3.43	5.29	1.53	0.23141	.	0.437967	0.27627	N	0.018532	T	0.05090	0.0136	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37596	-0.9699	10	0.35671	T	0.21	.	7.1396	0.25548	0.0:0.4198:0.0:0.5802	.	505	Q06190	P2R3A_HUMAN	R	505	ENSP00000264977:S505R	ENSP00000264977:S505R	S	+	3	2	PPP2R3A	137204545	1.000000	0.71417	0.992000	0.48379	0.335000	0.28730	0.642000	0.24735	0.373000	0.24621	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	1	0	1	71	312	0	78	1	7.219069e-01	2	11	0	78	2		0	0	0	0	0	2	1	1	71	309	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R3A	5523	broad.mit.edu	37	3	135722249	135722249	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135722249T>G	ENST00000264977.3	+	2	2526	c.1909T>G	c.(1909-1911)Tta>Gta	p.L637V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha			31					CCAGGCCAATTTATCAGTCTG	0.418000																								0							SO:0001583	missense			ENST00000264977.3	1	1	hg19	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	0.428	-0.904797	0.02453	.	.	ENSG00000073711	ENST00000264977	T	0.05717	3.4	5.57	-1.4	0.08968	.	1.303650	0.05116	N	0.489740	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44651	-0.9314	10	0.19147	T	0.46	.	0.2744	0.00236	0.2782:0.1742:0.286:0.2616	.	637	Q06190	P2R3A_HUMAN	V	637	ENSP00000264977:L637V	ENSP00000264977:L637V	L	+	1	2	PPP2R3A	137204939	0.000000	0.05858	0.507000	0.27676	0.939000	0.58152	-0.008000	0.12788	-0.146000	0.11274	0.460000	0.39030	TTA		TCGA-IB-7651-01A-11D-2154-08	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	1	0	1	78	335	0	97	1	7.349788e-01	4	9	0	97	2		0	0	0	0	0	2	1	1	76	329	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R3A	5523	broad.mit.edu	37	3	135822208	135822208	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135822208C>T	ENST00000264977.3	+	12	3829	c.3212C>T	c.(3211-3213)gCg>gTg	p.A1071V	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V|PPP2R3A_ENST00000469270.1_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha			31					GATCCCTTTGCGGTCCAGAAG	0.413000																								0							SO:0001583	missense			ENST00000264977.3	1	1	hg19	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928315	0.92389	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.25414	3.19;1.8;2.11	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.62382	0.796;0.901	T	0.18524	-1.0334	10	0.51188	T	0.08	.	18.4735	0.90783	0.0:1.0:0.0:0.0	.	450;1071	Q06190-2;Q06190	.;P2R3A_HUMAN	V	1071;335;450	ENSP00000264977:A1071V;ENSP00000419344:A335V;ENSP00000334748:A450V	ENSP00000264977:A1071V	A	+	2	0	PPP2R3A	137304898	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.776000	0.85560	2.677000	0.91161	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	1	0	1	63	237	0	46	1	9.936420e-01	12	20	0	46	2		0	0	0	0	0	2	1	1	63	236	0	45	2								-3.383522	1	0	121408	2	25	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSL2	55167	broad.mit.edu	37	3	135870542	135870542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135870542G>A	ENST00000309993.2	-	2	1913	c.1181C>T	c.(1180-1182)aCa>aTa	p.T394I	MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)			18					GATTTTAGGTGTTGTGCCTCC	0.428000																								0							SO:0001583	missense			ENST00000309993.2	1	1	hg19	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	5.834	0.338085	0.11013	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.84	4.06	0.47325	.	0.408916	0.26796	N	0.022447	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.14531	-1.0469	9	0.19590	T	0.45	-1.9985	11.9761	0.53091	0.14:0.0:0.86:0.0	.	394	Q9HCI7	MSL2_HUMAN	I	394;320	.	ENSP00000311827:T394I	T	-	2	0	MSL2	137353232	0.998000	0.40836	0.016000	0.15963	0.876000	0.50452	5.843000	0.69424	0.818000	0.34468	0.551000	0.68910	ACA		TCGA-IB-7651-01A-11D-2154-08	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	1	0	1	91	389	0	97	1	9.999684e-01	11	55	0	97	2		0	0	0	0	0	2	1	1	87	384	0	96	2								-20.000000	1	1	121412	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAG1	10274	broad.mit.edu	37	3	136068110	136068110	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136068110G>A	ENST00000383202.2	-	29	3417	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	STAG1_ENST00000434713.2_Missense_Mutation_p.T794I|STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000536929.1_Missense_Mutation_p.T638I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1			58					TTCACCCCCAGTGACTAATGA	0.418000																								0							SO:0001583	missense			ENST00000383202.2	1	1	hg19	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073453	0.76415	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.31510	1.9;1.9;1.9;1.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.40543	1.245	0.80722	D	1	B;B	0.26708	0.007;0.157	B;B	0.22601	0.009;0.04	T	0.02064	-1.1220	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1054;1054	Q6P275;Q8WVM7	.;STAG1_HUMAN	I	1054;1054;794;638	ENSP00000372689:T1054I;ENSP00000236698:T1054I;ENSP00000404396:T794I;ENSP00000445787:T638I	ENSP00000236698:T1054I	T	-	2	0	STAG1	137550800	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	1	0	1	101	368	0	96	1	9.999999e-01	19	70	0	96	2		0	0	0	0	0	2	1	1	99	365	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAG1	10274	broad.mit.edu	37	3	136082224	136082224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136082224A>G	ENST00000383202.2	-	26	3027	c.2771T>C	c.(2770-2772)aTt>aCt	p.I924T	STAG1_ENST00000434713.2_Intron|STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000536929.1_Missense_Mutation_p.I508T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1			58					CAAACTGAGAATGAGAGTCTT	0.358000																								0							SO:0001583	missense			ENST00000383202.2	1	1	hg19	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144665	0.77888	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000536929	T;T;T	0.33865	1.8;1.83;1.39	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.74881	2.28	0.80722	D	1	D;P	0.63046	0.992;0.786	P;B	0.60949	0.881;0.368	T	0.58482	-0.7629	10	0.42905	T	0.14	.	15.2501	0.73539	1.0:0.0:0.0:0.0	.	924;924	Q6P275;Q8WVM7	.;STAG1_HUMAN	T	924;924;508	ENSP00000372689:I924T;ENSP00000236698:I924T;ENSP00000445787:I508T	ENSP00000236698:I924T	I	-	2	0	STAG1	137564914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.006000	0.58801	0.454000	0.30748	ATT		TCGA-IB-7651-01A-11D-2154-08	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	1	0	1	38	191	0	43	1	9.999062e-01	15	59	0	43	2		0	0	0	0	0	2	1	1	37	186	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
STAG1	10274	broad.mit.edu	37	3	136087969	136087969	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136087969G>A	ENST00000383202.2	-	24	2782	c.2526C>T	c.(2524-2526)gaC>gaT	p.D842D	STAG1_ENST00000434713.2_Silent_p.D616D|STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000536929.1_Silent_p.D426D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1			58					GGTTCTCCTCGTCTTGGTCAA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000383202.2	1	1	hg19	CCDS3090.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	1	0	0	21	213	0	39	1	9.756687e-01	6	57	0	39	2		0	0	0	0	0	2	1	9.999979e-01	20	212	0	39	2								-20.000000	1	1	121404	55	46	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.690000	1.000000	1.000000	0.952374	0.990000	1	8.600000e-01	1
FBLN2	2199	broad.mit.edu	37	3	13660486	13660486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13660486G>A	ENST00000295760.7	+	7	2091	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000404922.3_Silent_p.P674P|FBLN2_ENST00000535798.1_Silent_p.P700P	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2			24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		ACACCATCCCGCTGCCACTGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000295760.7	1	1	hg19	CCDS46762.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	1	0	1	16	77	0	24	0	1	0	188	0	24	2	1	1	297	1212	1	1422	6	1	9.999437e-01	15	74	0	24	2								-2.664464	1	1	120882	428	52	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999544	0.990000	1	9.900000e-01	1
NCK1	4690	broad.mit.edu	37	3	136664506	136664506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664506G>A	ENST00000481752.1	+	3	472	c.308G>A	c.(307-309)cGt>cAt	p.R103H	NCK1_ENST00000288986.2_Missense_Mutation_p.R103H|NCK1_ENST00000469404.1_Missense_Mutation_p.R39H			P16333	NCK1_HUMAN	NCK adaptor protein 1			13					CCAGGGGAACGTCTCTATGAC	0.418000																								0							SO:0001583	missense			ENST00000481752.1	1	1	hg19	CCDS3092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.808386|3.808386	0.70797|0.70797	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911|ENST00000496489	T;T;T;T;T;T;T|.	0.69306|.	-0.34;-0.34;1.3;1.09;2.29;-0.39;2.29|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Src homology-3 domain (1);|.	0.055856|.	0.64402|.	D|.	0.000001|.	T|T	0.75019|0.75019	0.3793|0.3793	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.915|.	D;B|.	0.72625|.	0.978;0.21|.	T|T	0.71646|0.71646	-0.4530|-0.4530	10|5	0.21014|.	T|.	0.42|.	-23.5168|-23.5168	18.3537|18.3537	0.90348|0.90348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39;103|.	B7Z751;P16333|.	.;NCK1_HUMAN|.	H|I	103;103;103;103;103;39;39|91	ENSP00000288986:R103H;ENSP00000417273:R103H;ENSP00000419302:R103H;ENSP00000419677:R103H;ENSP00000417729:R103H;ENSP00000419631:R39H;ENSP00000418060:R39H|.	ENSP00000288986:R103H|.	R|V	+|+	2|1	0|0	NCK1|NCK1	138147196|138147196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.367000|9.367000	0.97148|0.97148	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	1	0	1	31	425	0	94	1	9.998146e-01	21	158	0	94	2		0	0	0	0	0	2	1	1	30	416	0	93	2								-8.243186	1	0	121412	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.810000	0.560000	1.000000	1.000000	0.821062	0.810000	0	6.700000e-01	9.900000e-01
NCK1	4690	broad.mit.edu	37	3	136664529	136664529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664529G>A	ENST00000481752.1	+	3	495	c.331G>A	c.(331-333)Gct>Act	p.A111T	NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000469404.1_Missense_Mutation_p.A47T			P16333	NCK1_HUMAN	NCK adaptor protein 1			13					CAACATGCCCGCTTATGTGAA	0.438000																								0							SO:0001583	missense			ENST00000481752.1	1	1	hg19	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183921	0.78677	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000488930;ENST00000469404;ENST00000467911	T;T;T;T;T;T;T	0.40756	1.37;1.37;1.05;1.02;2.09;1.37;2.09	6.16	6.16	0.99307	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.65088	-0.6253	10	0.66056	D	0.02	-14.2769	18.3537	0.90348	0.0:0.0:1.0:0.0	.	47;111	B7Z751;P16333	.;NCK1_HUMAN	T	111;111;111;111;111;47;47	ENSP00000288986:A111T;ENSP00000417273:A111T;ENSP00000419302:A111T;ENSP00000419677:A111T;ENSP00000417729:A111T;ENSP00000419631:A47T;ENSP00000418060:A47T	ENSP00000288986:A111T	A	+	1	0	NCK1	138147219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.937000	0.99478	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	1	0	1	107	438	0	107	1	1	46	135	0	107	2		0	0	0	0	0	2	1	1	105	430	0	106	2								-3.388296	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCK1	4690	broad.mit.edu	37	3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136667191C>T	ENST00000481752.1	+	4	1194	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000469404.1_Missense_Mutation_p.R280C			P16333	NCK1_HUMAN	NCK adaptor protein 1			13					CATTGGGCAGCGTAAATTCAG	0.348000																								0							SO:0001583	missense			ENST00000481752.1	1	1	hg19	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198929	0.79015	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.81	4.93	0.64822	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.87097	2.86	0.80722	D	1	D;P	0.53151	0.958;0.939	P;P	0.50537	0.635;0.643	T	0.79279	-0.1869	10	0.87932	D	0	.	13.1657	0.59569	0.0:0.9208:0.0:0.0792	.	280;344	B7Z751;P16333	.;NCK1_HUMAN	C	344;344;280;147	ENSP00000288986:R344C;ENSP00000417273:R344C;ENSP00000419631:R280C;ENSP00000418060:R147C	ENSP00000288986:R344C	R	+	1	0	NCK1	138149881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	2.756000	0.94617	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	1	0	1	58	265	0	71	1	1	42	172	0	71	2		0	0	0	0	0	2	1	1	58	257	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBLN2	2199	broad.mit.edu	37	3	13672837	13672837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13672837G>A	ENST00000295760.7	+	15	3022	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E1032K|FBLN2_ENST00000404922.3_Missense_Mutation_p.E1032K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E1011K	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2			24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		AGACATCGACGAGTGTGCTCA	0.617000																								0							SO:0001583	missense			ENST00000295760.7	0	1	hg19	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333528	0.81801	0.0	1.18E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79	5.39	5.39	0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	D	0.96565	0.9418	10	0.87932	D	0	.	19.1574	0.93517	0.0:0.0:1.0:0.0	.	985;1032;1011	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	K	1011;1032;985;1032	ENSP00000445705:E1011K;ENSP00000384169:E1032K;ENSP00000295760:E985K;ENSP00000420042:E1032K	ENSP00000295760:E985K	E	+	1	0	FBLN2	13647838	1.000000	0.71417	0.990000	0.47175	0.103000	0.19146	9.782000	0.99034	2.525000	0.85131	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	0	0	0	4	58	0	9	0	9.991354e-01	0	285	0	9	2	1	9.998697e-01	100	891	1	879	6	1	8.887677e-01	4	57	0	9	2								-8.530274	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.830000	0.280000	1.000000	1.000000	0.780398	0.830000	0	5.000000e-01	1
DZIP1L	199221	broad.mit.edu	37	3	137783593	137783593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137783593C>T	ENST00000327532.2	-	15	2381	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like			35					TTTTGACCATCGACTGCACCA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000327532.2	1	1	hg19	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281852	0.01398	.	.	ENSG00000158163	ENST00000486487	.	.	.	4.93	-9.57	0.00562	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.30303	N	0.789263	.	.	.	.	.	.	T	0.33266	-0.9875	4	.	.	.	-4.4106	9.158	0.37005	0.0:0.1371:0.3222:0.5406	.	.	.	.	N	43	.	.	D	-	1	0	DZIP1L	139266283	0.002000	0.14202	0.059000	0.19551	0.067000	0.16453	-2.142000	0.01298	-1.733000	0.01357	-0.794000	0.03295	GAT		TCGA-IB-7651-01A-11D-2154-08	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	1	0	1	227	1076	0	251	0	7.636230e-01	0	15	0	251	2		0	0	0	0	0	2	1	1	222	1050	0	249	2								-20.000000	1	1	121392	4	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DZIP1L	199221	broad.mit.edu	37	3	137787054	137787054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787054C>T	ENST00000327532.2	-	13	2133	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like			35					GGGCGTGGAGCGGGGGCGGAC	0.697000																								0							SO:0001583	missense			ENST00000327532.2	1	1	hg19	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	6.214	0.407542	0.11754	.	.	ENSG00000158163	ENST00000327532	T	0.38560	1.13	4.91	-0.64	0.11493	.	0.988360	0.08252	N	0.974395	T	0.17746	0.0426	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.24483	T	0.36	0.5692	7.6678	0.28441	0.0:0.3723:0.0:0.6277	.	591	Q8IYY4	DZI1L_HUMAN	T	591	ENSP00000332148:A591T	ENSP00000332148:A591T	A	-	1	0	DZIP1L	139269744	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.192000	0.03052	-0.198000	0.10333	-0.300000	0.09419	GCT		TCGA-IB-7651-01A-11D-2154-08	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	1	0	1	77	295	0	66	1	6.969266e-01	2	9	0	66	2		0	0	0	0	0	2	1	1	73	290	0	66	2								-3.775232	1	1	121372	2	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DZIP1L	199221	broad.mit.edu	37	3	137787193	137787193	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787193G>A	ENST00000327532.2	-	13	1994	c.1632C>T	c.(1630-1632)agC>agT	p.S544S	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like			35					TGACCAGTGTGCTCTGCTGGC	0.562000											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000327532.2	1	1	hg19	CCDS3096.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	1	0	1	62	273	0	61	0	7.613238e-01	0	14	0	61	2		0	0	0	0	0	2	1	1	60	267	0	61	2								-3.451570	1	1	121312	1	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DBR1	51163	broad.mit.edu	37	3	137893465	137893465	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137893465T>C	ENST00000260803.4	-	1	326	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1			15					CATGTGACGATACTTGGGCGG	0.687000																								0							SO:0001583	missense			ENST00000260803.4	1	1	hg19	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837797	0.91117	.	.	ENSG00000138231	ENST00000260803	T	0.34667	1.35	5.26	5.26	0.73747	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81529	-0.0891	10	0.87932	D	0	-14.0475	13.1814	0.59657	0.0:0.0:0.0:1.0	.	58	Q9UK59	DBR1_HUMAN	C	58	ENSP00000260803:Y58C	ENSP00000260803:Y58C	Y	-	2	0	DBR1	139376155	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.523000	0.81856	2.213000	0.71641	0.455000	0.32223	TAT		TCGA-IB-7651-01A-11D-2154-08	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	1	0	1	23	72	0	21	1	9.997546e-01	17	30	0	21	2		0	0	0	0	0	2	1	9.999998e-01	23	72	0	21	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ARMC8	25852	broad.mit.edu	37	3	138007892	138007892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138007892C>T	ENST00000469044.1	+	20	2095	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	NME9_ENST00000341790.5_Intron|ARMC8_ENST00000491704.1_Silent_p.G566G|ARMC8_ENST00000538260.1_Silent_p.G577G|NME9_ENST00000536478.1_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000485396.1_Silent_p.G535G|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000393058.3_Silent_p.G598G|ARMC8_ENST00000461822.1_Silent_p.G541G|ARMC8_ENST00000481646.1_Silent_p.G594G|NME9_ENST00000317876.4_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8			16					ATTAATAGGGCCATTCACATG	0.338000																								0							SO:0001819	synonymous_variant			ENST00000469044.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	0	0	0	21	98	1	27	0	7.413940e-01	7	47	1	27	8		0	0	0	0	0	2	1	9.039764e-01	21	93	1	27	14								-13.780250	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999919	0.990000	1	9.900000e-01	1
ESYT3	83850	broad.mit.edu	37	3	138191410	138191410	+	Missense_Mutation	SNP	G	G	A	rs147770352	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138191410G>A	ENST00000389567.4	+	18	2132	c.1946G>A	c.(1945-1947)aGt>aAt	p.S649N		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3			25					ACCACCACCAGTGCTACCACC	0.557000																								0							SO:0001583	missense			ENST00000389567.4	1	1	hg19	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	2.209	-0.381065	0.05000	.	.	ENSG00000158220	ENST00000389567	T	0.38887	1.11	3.35	2.35	0.29111	.	2.072220	0.02129	N	0.056260	T	0.35278	0.0926	L	0.36672	1.1	0.19575	N	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.18710	T	0.47	-0.1719	9.3357	0.38049	0.0:0.0:0.7719:0.2281	.	649	A0FGR9	ESYT3_HUMAN	N	649	ENSP00000374218:S649N	ENSP00000374218:S649N	S	+	2	0	ESYT3	139674100	0.143000	0.22626	0.094000	0.20943	0.717000	0.41224	0.770000	0.26618	1.713000	0.51359	0.462000	0.41574	AGT		TCGA-IB-7651-01A-11D-2154-08	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	1	0	1	138	599	0	175	1	2.388652e-01	2	3	0	175	2		0	0	0	0	0	2	1	1	134	585	0	175	2								-3.469501	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESYT3	83850	broad.mit.edu	37	3	138192394	138192394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138192394C>T	ENST00000389567.4	+	19	2440	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3			25					GGACCTCAGGCGACGGCAGCT	0.557000																								0							SO:0001587	stop_gained			ENST00000389567.4	0	1	hg19	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	38	7.071072	0.98044	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.83	1.96	0.26148	.	1.153470	0.06567	N	0.747700	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-21.8153	8.2911	0.31958	0.4533:0.3999:0.1468:0.0	.	.	.	.	X	752	.	ENSP00000374218:R752X	R	+	1	2	ESYT3	139675084	0.050000	0.20438	0.001000	0.08648	0.012000	0.07955	0.631000	0.24568	0.314000	0.23086	-0.127000	0.14921	CGA		TCGA-IB-7651-01A-11D-2154-08	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	1	0	1	118	613	0	153	1	4.413705e-01	2	7	0	153	2		0	0	0	0	0	2	1	1	117	593	0	153	2								-20.000000	1	1	121004	7	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESYT3	83850	broad.mit.edu	37	3	138195085	138195085	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138195085T>C	ENST00000389567.4	+	21	2675	c.2489T>C	c.(2488-2490)aTg>aCg	p.M830T	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3			25					TTTGTTCCCATGGAAGAAGTA	0.358000																								0							SO:0001583	missense			ENST00000389567.4	1	1	hg19	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191359	0.38707	.	.	ENSG00000158220	ENST00000389567	T	0.68479	-0.33	5.16	5.16	0.70880	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.261920	0.24681	U	0.036474	T	0.50531	0.1621	L	0.28740	0.885	0.80722	D	1	B	0.23128	0.08	B	0.27262	0.078	T	0.42799	-0.9430	10	0.13108	T	0.6	-8.2165	8.355	0.32324	0.1749:0.0:0.0:0.8251	.	830	A0FGR9	ESYT3_HUMAN	T	830	ENSP00000374218:M830T	ENSP00000374218:M830T	M	+	2	0	ESYT3	139677775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.088000	0.64486	2.173000	0.68751	0.374000	0.22700	ATG		TCGA-IB-7651-01A-11D-2154-08	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	0	0	1	66	275	0	91	0	1.003932e-01	0	3	0	91	2		0	0	0	0	0	2	1	1	64	269	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf72	0	broad.mit.edu	37	3	138669185	138669185	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669185G>A	ENST00000383165.3	+	3	430	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN				4					GGGAAGCGTCGCGGCTGCTCT	0.682000																								0							SO:0001583	missense			ENST00000383165.3	1	1	hg19	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	G	6.161	0.397971	0.11696	.	.	ENSG00000206262	ENST00000383165	.	.	.	1.79	-1.45	0.08828	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.16867	-1.0388	8	0.54805	T	0.06	.	4.1627	0.10291	0.1688:0.3982:0.433:0.0	.	100	Q6ZUU3	CC072_HUMAN	H	100	.	ENSP00000372651:R100H	R	+	2	0	C3orf72	140151875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.418000	0.07080	-0.475000	0.06852	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1	1	0	0	51	191	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	50	188	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf72	0	broad.mit.edu	37	3	138669383	138669383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669383C>T	ENST00000383165.3	+	3	628	c.497C>T	c.(496-498)gCt>gTt	p.A166V		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN				4					CGGTGCTTGGCTAGCAAAGGG	0.612000																								0							SO:0001583	missense			ENST00000383165.3	1	1	hg19	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	6.740	0.505377	0.12822	.	.	ENSG00000206262	ENST00000383165	.	.	.	3.79	-3.56	0.04626	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.18713	-1.0328	8	0.87932	D	0	.	0.1327	0.00075	0.2483:0.2598:0.1865:0.3054	.	166	Q6ZUU3	CC072_HUMAN	V	166	.	ENSP00000372651:A166V	A	+	2	0	C3orf72	140152073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-1.077000	0.03121	-1.184000	0.01707	GCT		TCGA-IB-7651-01A-11D-2154-08	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1	1	0	1	103	395	0	85	0	0	0	1	0	85	2		0	0	0	0	0	2	1	1	101	390	0	83	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COPB2	9276	broad.mit.edu	37	3	139097937	139097937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139097937G>A	ENST00000333188.5	-	4	488	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	COPB2_ENST00000510491.1_5'UTR|COPB2_ENST00000507777.1_Missense_Mutation_p.R74C	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	p.R103C(1)		24					GCAATACAGCGAATGTAGTCT	0.383000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000333188.5	1	1	hg19	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085074	0.94100	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000515006;ENST00000512153;ENST00000513274;ENST00000512242;ENST00000514508	T;T;D;T;T;T;D	0.81821	0.06;0.06;-1.54;0.06;0.06;0.06;-1.54	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91052	0.4879	10	0.87932	D	0	-21.7541	20.0639	0.97700	0.0:0.0:1.0:0.0	.	103;103	B4E2C9;P35606	.;COPB2_HUMAN	C	103;74;103;74;74;74;74	ENSP00000329419:R103C;ENSP00000422295:R74C;ENSP00000423271:R103C;ENSP00000422547:R74C;ENSP00000424144:R74C;ENSP00000427185:R74C;ENSP00000422469:R74C	ENSP00000329419:R103C	R	-	1	0	COPB2	140580627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.817000	0.96982	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	1	0	1	48	242	0	58	1	1	95	284	0	58	2		0	0	0	0	0	2	1	1	45	239	0	58	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBP2	5948	broad.mit.edu	37	3	139195235	139195235	+	Missense_Mutation	SNP	C	C	T	rs147339826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139195235C>T	ENST00000232217.2	-	1	123	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	p.A23S(1)		12				Vitamin A(DB00162)	TTACCCAGGGCCTTCATGTAG	0.547000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000232217.2	1	1	hg19	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212263	0.79240	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.08984	3.03;3.03	5.34	5.34	0.76211	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.100250	0.64402	D	0.000002	T	0.23249	0.0562	M	0.65498	2.005	0.80722	D	1	D	0.64830	0.994	P	0.56916	0.809	T	0.00121	-1.2029	10	0.72032	D	0.01	.	16.5562	0.84485	0.0:1.0:0.0:0.0	.	23	P50120	RET2_HUMAN	T	23	ENSP00000232217:A23T;ENSP00000424333:A23T	ENSP00000232217:A23T	A	-	1	0	RBP2	140677925	1.000000	0.71417	0.999000	0.59377	0.429000	0.31625	5.020000	0.64066	2.659000	0.90383	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	1	0	1	66	256	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	64	245	0	51	2								-3.726807	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139297773G>A	ENST00000296202.7	-	4	615	c.234C>T	c.(232-234)atC>atT	p.I78I	NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406164.1_Silent_p.I41I|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_Silent_p.I41I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000512391.1_Silent_p.I78I			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	p.I41I(1)		9					GGTCCACCCGGATCCAGTCGG	0.587000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000296202.7	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	1	0	1	38	217	0	52	1	8.391128e-01	5	16	0	52	2		0	0	0	0	0	2	1	1	38	217	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
CNTN6	27255	broad.mit.edu	37	3	1394015	1394015	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1394015C>A	ENST00000446702.2	+	12	1999	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I|CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I			Q9UQ52	CNTN6_HUMAN	contactin 6			90		all_cancers(2;0.000164)|all_epithelial(2;0.107)			TAGAATATTTCTCTTGGAGGA	0.323000																								0							SO:0001583	missense			ENST00000446702.2	1	1	hg19	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158095	0.01686	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.65364	-0.15;-0.15;-0.15	5.68	0.44	0.16572	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.322819	0.22167	N	0.063700	T	0.21590	0.0520	N	0.02158	-0.66	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.22626	-1.0211	10	0.02654	T	1	.	0.6072	0.00755	0.4032:0.2267:0.1564:0.2138	.	458	Q9UQ52	CNTN6_HUMAN	I	458;386;458	ENSP00000407822:L458I;ENSP00000442791:L386I;ENSP00000341882:L458I	ENSP00000341882:L458I	L	+	1	0	CNTN6	1369015	0.012000	0.17670	0.005000	0.12908	0.785000	0.44390	0.046000	0.14035	0.385000	0.24970	0.585000	0.79938	CTC		TCGA-IB-7651-01A-11D-2154-08	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	1	0	1	35	184	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	35	179	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
CLSTN2	64084	broad.mit.edu	37	3	140277580	140277580	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140277580A>C	ENST00000458420.3	+	12	2112	c.1922A>C	c.(1921-1923)gAc>gCc	p.D641A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2			87					CGGGGCACAGACCACTTCTGG	0.572000										HNSCC(16;0.037)			GBM(45;858 913 3709 36904 37282)											0							SO:0001583	missense			ENST00000458420.3	1	1	hg19	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	8.256	0.810116	0.16537	.	.	ENSG00000158258	ENST00000458420	T	0.28895	1.59	5.27	5.27	0.74061	.	0.374526	0.32301	N	0.006290	T	0.25568	0.0622	L	0.41710	1.295	0.35741	D	0.818657	P	0.49090	0.919	B	0.40256	0.324	T	0.32025	-0.9922	9	.	.	.	-22.7113	13.1571	0.59524	1.0:0.0:0.0:0.0	.	641	Q9H4D0	CSTN2_HUMAN	A	641	ENSP00000402460:D641A	.	D	+	2	0	CLSTN2	141760270	1.000000	0.71417	0.104000	0.21259	0.750000	0.42670	9.339000	0.96797	1.990000	0.58119	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	1	0	1	60	305	0	78	0	5.115692e-01	0	9	0	78	2		0	0	0	0	0	2	1	1	60	303	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A36	55186	broad.mit.edu	37	3	140692672	140692672	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140692672G>T	ENST00000324194.6	+	6	735	c.567G>T	c.(565-567)gaG>gaT	p.E189D	RP11-231L11.3_ENST00000513802.1_RNA|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E189D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36			6					GTATATCAGAGACTGTTATCC	0.353000																								0							SO:0001583	missense			ENST00000324194.6	1	1	hg19	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335840	0.81801	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78246	-1.16;-1.16;-1.16	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.996	D	0.92087	0.5677	10	0.54805	T	0.06	-7.1033	11.2987	0.49292	0.0818:0.0:0.9182:0.0	.	163;189;189	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	D	189;189;163	ENSP00000401938:E189D;ENSP00000320688:E189D;ENSP00000391521:E163D	ENSP00000320688:E189D	E	+	3	2	SLC25A36	142175362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.264000	0.58859	2.861000	0.98227	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	1	0	1	48	228	0	35	1	9.996266e-01	6	53	0	35	2		0	0	0	0	0	2	1	1	47	226	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPSB4	92369	broad.mit.edu	37	3	140785480	140785480	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785480C>T	ENST00000310546.2	+	2	1278	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4			4					ACTCGCTGCTCGTGGTGCTGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000310546.2	1	1	hg19	CCDS3115.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	1	0	1	22	98	0	23	0	3.678529e-02	0	2	0	23	2		0	0	0	0	0	2	1	9.999994e-01	22	97	0	22	2								-20.000000	1	0	121346	15	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
SPSB4	92369	broad.mit.edu	37	3	140785540	140785540	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785540C>T	ENST00000310546.2	+	2	1338	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4			4					AGTACCTGGGCGTGGCCTTCC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000310546.2	1	1	hg19	CCDS3115.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	1	0	1	28	183	0	47	0	1.908648e-02	0	2	0	47	2		0	0	0	0	0	2	1	1	28	180	0	47	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999402	0.990000	1	9.900000e-01	1
SPSB4	92369	broad.mit.edu	37	3	140785571	140785571	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785571C>T	ENST00000310546.2	+	2	1369	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4			4					GGGCAAGAAGCTGTACCCGGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000310546.2	1	1	hg19	CCDS3115.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	1	0	0	13	247	0	57	0	3.047630e-03	0	2	0	57	2		0	0	0	0	0	2	1	9.994996e-01	12	242	0	57	2								-15.200930	1	0	121402	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.610000	0.340000	1.000000	0.590000	0.640708	0.610000	0	4.600000e-01	8.200000e-01
ZBTB38	253461	broad.mit.edu	37	3	141163088	141163088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163088G>T	ENST00000514251.1	+	4	2137	c.1858G>T	c.(1858-1860)Gat>Tat	p.D620Y	ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y					zinc finger and BTB domain containing 38			41					GAATTTCCAAGATACTGTAAA	0.443000																								0							SO:0001583	missense			ENST00000514251.1	1	1	hg19	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146053	0.37923	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.09163	3.47;3.01;3.01;3.01	5.55	2.76	0.32466	.	0.461992	0.22355	N	0.061147	T	0.08044	0.0201	L	0.44542	1.39	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.23419	0.046;0.046	T	0.32161	-0.9917	9	.	.	.	-4.1212	6.2002	0.20571	0.2194:0.3343:0.4463:0.0	.	621;620	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Y	620;620;620;621	ENSP00000424254:D620Y;ENSP00000426387:D620Y;ENSP00000406955:D620Y;ENSP00000372635:D621Y	.	D	+	1	0	ZBTB38	142645778	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	1.371000	0.34250	0.292000	0.22492	-0.898000	0.02899	GAT		TCGA-IB-7651-01A-11D-2154-08	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	1	73	390	0	103	1	1	37	137	0	103	2		0	0	0	0	0	2	1	1	73	387	0	103	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB38	253461	broad.mit.edu	37	3	141163405	141163405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163405G>A	ENST00000514251.1	+	4	2454	c.2175G>A	c.(2173-2175)tcG>tcA	p.S725S	ZBTB38_ENST00000441582.2_Silent_p.S725S|ZBTB38_ENST00000321464.5_Silent_p.S726S					zinc finger and BTB domain containing 38			41					AGTTTTCATCGGTGATCATGC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000514251.1	1	1	hg19	CCDS43157.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	1	88	328	0	82	1	1	32	131	0	82	2		0	0	0	0	0	2	1	1	85	323	0	81	2								-2.981122	1	1	121002	2	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB38	253461	broad.mit.edu	37	3	141163589	141163589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163589G>A	ENST00000514251.1	+	4	2638	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K					zinc finger and BTB domain containing 38			41					TACCAGGGGAGAAATACCGGA	0.428000																								0							SO:0001583	missense			ENST00000514251.1	1	1	hg19	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241111	0.39598	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09255	3.0;3.0;3.0	5.33	5.33	0.75918	.	0.507348	0.19173	N	0.120890	T	0.12987	0.0315	L	0.57536	1.79	0.49389	D	0.99978	P;P	0.43094	0.799;0.799	B;B	0.32980	0.156;0.156	T	0.10109	-1.0644	9	.	.	.	-11.7549	19.0314	0.92959	0.0:0.0:1.0:0.0	.	788;787	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	787;787;788	ENSP00000426387:E787K;ENSP00000406955:E787K;ENSP00000372635:E788K	.	E	+	1	0	ZBTB38	142646279	1.000000	0.71417	0.555000	0.28281	0.428000	0.31595	6.996000	0.76263	2.497000	0.84241	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	1	30	181	0	49	1	1	42	144	0	49	2		0	0	0	0	0	2	1	1	29	174	0	49	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999837	0.990000	1	9.900000e-01	1
ZBTB38	253461	broad.mit.edu	37	3	141163596	141163596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163596C>T	ENST00000514251.1	+	4	2645	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L					zinc finger and BTB domain containing 38			41					GGAGAAATACCGGAGGAGTCA	0.428000																								0							SO:0001583	missense			ENST00000514251.1	1	1	hg19	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.027271	0.02045	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08370	3.1;3.1;3.1	5.33	3.29	0.37713	.	1.066810	0.07311	N	0.875850	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40040	-0.9584	9	.	.	.	-0.1081	8.7571	0.34652	0.0:0.7163:0.0:0.2837	.	790;789	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	789;789;790	ENSP00000426387:P789L;ENSP00000406955:P789L;ENSP00000372635:P790L	.	P	+	2	0	ZBTB38	142646286	0.006000	0.16342	0.265000	0.24526	0.304000	0.27724	1.585000	0.36600	1.255000	0.44051	-0.143000	0.13931	CCG		TCGA-IB-7651-01A-11D-2154-08	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2	1	0	1	43	169	0	53	1	1	25	150	0	53	2		0	0	0	0	0	2	1	1	40	163	0	53	2								-3.171253	1	0	120804	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASA2	5922	broad.mit.edu	37	3	141291549	141291549	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141291549A>C	ENST00000452898.1	+	12	1303	c.1268A>C	c.(1267-1269)aAa>aCa	p.K423T	RASA2_ENST00000286364.3_Missense_Mutation_p.K423T	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2			34					GTAACATTAAAACCTATTCTT	0.373000																								0							SO:0001583	missense			ENST00000452898.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	24.9	4.583093	0.86748	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.56769	1.78	0.80722	D	1	P;D;D;D	0.56746	0.867;0.977;0.972;0.977	P;D;D;D	0.69824	0.836;0.966;0.943;0.966	T	0.25363	-1.0134	10	0.56958	D	0.05	.	16.0916	0.81094	1.0:0.0:0.0:0.0	.	15;423;423;423	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	T	423;423;15	ENSP00000286364:K423T;ENSP00000391677:K423T	ENSP00000286364:K423T	K	+	2	0	RASA2	142774239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.186000	0.69663	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	RASA2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	55	244	0	63	1	9.970627e-01	5	37	0	63	2		0	0	0	0	0	2	1	1	54	240	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN6	27255	broad.mit.edu	37	3	1414156	1414156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1414156G>T	ENST00000446702.2	+	13	2293	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*			Q9UQ52	CNTN6_HUMAN	contactin 6			90		all_cancers(2;0.000164)|all_epithelial(2;0.107)			AAGGATTGGAGGAGTAAGTTA	0.348000																								0							SO:0001587	stop_gained			ENST00000446702.2	0	1	hg19	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	44	11.096650	0.99515	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	14.9318	0.70919	0.0706:0.0:0.9294:0.0	.	.	.	.	X	556;484;556	.	ENSP00000341882:G556X	G	+	1	0	CNTN6	1389156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.376000	0.79658	2.732000	0.93576	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	1	0	1	50	221	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	49	217	0	47	2								-3.285716	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRK7	131890	broad.mit.edu	37	3	141497440	141497440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141497440C>T	ENST00000264952.2	+	1	451	c.314C>T	c.(313-315)gCg>gTg	p.A105V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7			26					AAAGACAGCGCGCTGCAGGGG	0.672000																								0							SO:0001583	missense			ENST00000264952.2	1	1	hg19	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717074	0.15372	.	.	ENSG00000114124	ENST00000264952	T	0.02015	4.5	4.37	-3.86	0.04230	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	2.007550	0.02149	N	0.057872	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	P	0.42248	0.774	B	0.28784	0.094	T	0.44711	-0.9310	10	0.52906	T	0.07	2.9895	5.7512	0.18148	0.0:0.3545:0.2322:0.4132	.	105	Q8WTQ7	GRK7_HUMAN	V	105	ENSP00000264952:A105V	ENSP00000264952:A105V	A	+	2	0	GRK7	142980130	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.252000	0.08806	-0.921000	0.03794	-0.471000	0.05019	GCG		TCGA-IB-7651-01A-11D-2154-08	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	1	0	0	12	273	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	9.990549e-01	12	267	0	61	2								-13.567680	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.520000	0.280000	1.000000	0.500000	0.553408	0.520000	0	3.800000e-01	7.100000e-01
GRK7	131890	broad.mit.edu	37	3	141499500	141499500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141499500G>T	ENST00000264952.2	+	2	1034	c.897G>T	c.(895-897)caG>caT	p.Q299H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7			26					ACTCGGCCCAGATAGCCTGTG	0.547000																								0							SO:0001583	missense			ENST00000264952.2	1	1	hg19	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196994	0.79015	.	.	ENSG00000114124	ENST00000264952	T	0.34667	1.35	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63462	-0.6632	10	0.87932	D	0	-21.6541	18.5075	0.90902	0.0:0.0:1.0:0.0	.	299	Q8WTQ7	GRK7_HUMAN	H	299	ENSP00000264952:Q299H	ENSP00000264952:Q299H	Q	+	3	2	GRK7	142982190	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.304000	0.65744	2.357000	0.79964	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	1	0	1	50	218	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	47	214	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRK7	131890	broad.mit.edu	37	3	141526556	141526556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526556T>C	ENST00000264952.2	+	3	1257	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7			26					TCCTGTGGACTGGTTTGCCAT	0.418000																								0							SO:0001583	missense			ENST00000264952.2	1	1	hg19	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246655	0.80024	.	.	ENSG00000114124	ENST00000264952	T	0.24723	1.84	4.93	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74731	-0.3566	10	0.87932	D	0	-9.2897	14.5933	0.68386	0.0:0.0:0.0:1.0	.	374	Q8WTQ7	GRK7_HUMAN	R	374	ENSP00000264952:W374R	ENSP00000264952:W374R	W	+	1	0	GRK7	143009246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	1.847000	0.53656	0.528000	0.53228	TGG		TCGA-IB-7651-01A-11D-2154-08	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	1	0	1	93	444	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	92	440	0	88	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHCHD4	131474	broad.mit.edu	37	3	14154654	14154654	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14154654T>C	ENST00000396914.3	-	3	343	c.162A>G	c.(160-162)ccA>ccG	p.P54P	CHCHD4_ENST00000295767.5_Silent_p.P67P	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4			5					CCCCAAGGCATGGGCAGTTCC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000396914.3	1	1	hg19	CCDS43054.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	1	0	1	64	295	0	88	1	9.999988e-01	41	53	0	88	2		0	0	0	0	0	2	1	1	62	288	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP1B3	483	broad.mit.edu	37	3	141644374	141644374	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141644374T>C	ENST00000286371.3	+	7	859	c.671T>C	c.(670-672)gTt>gCt	p.V224A	ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Splice_Site_p.V34A|ATP1B3_ENST00000539728.1_3'UTR	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide			4					TATTGCCAGGTTGGGTATCTA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000286371.3	1	0	hg19	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	T	7.279	0.608812	0.14066	.	.	ENSG00000069849	ENST00000286371;ENST00000462082	T;T	0.29142	1.58;1.58	5.58	0.0747	0.14396	.	0.662303	0.16266	N	0.222039	T	0.21590	0.0520	M	0.65975	2.015	0.40735	D	0.982782	B;B	0.19200	0.034;0.034	B;B	0.22152	0.022;0.038	T	0.14699	-1.0463	10	0.07482	T	0.82	-6.4638	1.5542	0.02581	0.1219:0.1728:0.2729:0.4324	.	210;224	D3DNF9;P54709	.;AT1B3_HUMAN	A	224;34	ENSP00000286371:V224A;ENSP00000418353:V34A	ENSP00000286371:V224A	V	+	2	0	ATP1B3	143127064	0.957000	0.32711	0.226000	0.23910	0.093000	0.18481	0.330000	0.19715	0.064000	0.16427	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	1	0	1	131	560	0	101	1	1	127	478	0	101	2		0	0	0	0	0	2	1	1	129	554	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPC	7508	broad.mit.edu	37	3	14190179	14190179	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190179G>T	ENST00000285021.7	-	13	2517	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.P731H|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C			22					ACAGCCAATAGGCATCATGCT	0.582000			Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0							SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000285021.7	0	1	hg19	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056570	0.93793	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	D;D	0.91577	-2.87;-2.61	5.79	5.79	0.91817	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97465	1.0037	10	0.87932	D	0	-19.3044	20.0207	0.97499	0.0:0.0:1.0:0.0	.	731;768	E9PH69;Q01831	.;XPC_HUMAN	H	768;731	ENSP00000285021:P768H;ENSP00000404002:P731H	ENSP00000285021:P768H	P	-	2	0	XPC	14165180	1.000000	0.71417	0.965000	0.40720	0.915000	0.54546	9.607000	0.98328	2.739000	0.93911	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	0	0	1	18	192	1	49	1	6.953965e-01	21	137	1	49	12		0	0	0	0	0	2	1	7.476617e-01	17	190	1	48	15								-19.999940	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.630000	1.000000	1.000000	0.932458	0.990000	1	8.100000e-01	1
XPC	7508	broad.mit.edu	37	3	14190224	14190224	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190224C>A	ENST00000285021.7	-	13	2472	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.R716L|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C			22					AAACTCGTTCCGGGGCACCTG	0.602000			Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0							SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000285021.7	1	1	hg19	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904535	0.92035	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.41400	1.0;1.04	5.65	5.65	0.86999	DNA repair protein Rad4, DNA-binding domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.77281	-0.2646	10	0.87932	D	0	-25.7765	19.7205	0.96142	0.0:1.0:0.0:0.0	.	716;753	E9PH69;Q01831	.;XPC_HUMAN	L	753;716	ENSP00000285021:R753L;ENSP00000404002:R716L	ENSP00000285021:R753L	R	-	2	0	XPC	14165225	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	7.617000	0.83032	2.671000	0.90904	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	1	0	1	39	157	0	39	1	1	27	114	0	39	2		0	0	0	0	0	2	1	9.994385e-01	36	156	1	36	17								-3.389322	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPC	7508	broad.mit.edu	37	3	14207064	14207064	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14207064C>A	ENST00000285021.7	-	6	857	c.643G>T	c.(643-645)Gca>Tca	p.A215S	XPC_ENST00000449060.2_Missense_Mutation_p.A178S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C			22					AAGCCATTTGCTAGCAGGCAG	0.527000			Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0							SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000285021.7	1	1	hg19	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164672	0.78339	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.65178	-0.14;-0.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.73598	2.24	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.56042	0.73;0.79	T	0.76130	-0.3072	10	0.45353	T	0.12	-17.5158	19.5002	0.95091	0.0:1.0:0.0:0.0	.	178;215	E9PH69;Q01831	.;XPC_HUMAN	S	215;178	ENSP00000285021:A215S;ENSP00000404002:A178S	ENSP00000285021:A215S	A	-	1	0	XPC	14182068	1.000000	0.71417	0.895000	0.35142	0.123000	0.20343	6.688000	0.74557	2.604000	0.88044	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	1	0	1	21	76	0	15	1	9.999987e-01	20	74	0	15	2		0	0	0	0	0	2	1	9.999989e-01	20	76	0	15	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
XRN1	54464	broad.mit.edu	37	3	142095328	142095328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142095328T>C	ENST00000264951.4	-	24	2941	c.2824A>G	c.(2824-2826)Agg>Ggg	p.R942G	XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1			61					TACTTTCTCCTAGATCCTCTT	0.308000																								0							SO:0001583	missense			ENST00000264951.4	1	1	hg19	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971976	0.74246	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.32272	1.46;1.46	5.53	5.53	0.82687	.	0.054497	0.85682	D	0.000000	T	0.31702	0.0805	L	0.56280	1.765	0.80722	D	1	B;B;B	0.18166	0.026;0.016;0.002	B;B;B	0.15484	0.008;0.013;0.002	T	0.04664	-1.0935	10	0.34782	T	0.22	-14.6321	15.6489	0.77076	0.0:0.0:0.0:1.0	.	803;942;942	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	G	942	ENSP00000264951:R942G;ENSP00000376707:R942G	ENSP00000264951:R942G	R	-	1	2	XRN1	143578018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.112000	0.64535	0.482000	0.46254	AGG		TCGA-IB-7651-01A-11D-2154-08	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	1	0	0	38	142	0	27	1	9.995580e-01	17	31	0	27	2		0	0	0	0	0	2	1	1	36	140	0	27	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPC	7508	broad.mit.edu	37	3	14209881	14209881	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14209881C>T	ENST00000285021.7	-	4	627		c.e4-1		XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C			22					TCACTAAGTTCTATCAACAAG	0.423000			Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	xeroderma pigmentosum, complementation group C		E	0							SO:0001630	splice_region_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000285021.7	0	1	hg19	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536607	0.27475	.	.	ENSG00000154767	ENST00000285021;ENST00000511155	.	.	.	5.46	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0672	0.64837	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	XPC	14184885	1.000000	0.71417	0.938000	0.37757	0.167000	0.22549	5.845000	0.69437	1.304000	0.44892	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	0	0	0	8	199	0	58	0	2.050581e-03	0	2	0	58	2		0	0	0	0	0	2	1	9.893700e-01	8	197	0	57	2								-3.402605	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.480000	0.220000	1.000000	0.440000	0.525648	0.480000	0	3.300000e-01	7.000000e-01
ATR	545	broad.mit.edu	37	3	142168272	142168272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142168272C>T	ENST00000350721.4	-	47	8055	c.7934G>A	c.(7933-7935)tGa>tAa	p.*2645*	XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000392981.2_5'Flank|ATR_ENST00000383101.3_Silent_p.*2581*|XRN1_ENST00000465074.1_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					AATTTCATTTCACATATATGG	0.313000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000350721.4	0	1	hg19	CCDS3124.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1	61	264	0	44	1	9.751220e-01	7	21	0	44	2		0	0	0	0	0	2	1	1	61	260	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATR	545	broad.mit.edu	37	3	142186836	142186836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142186836C>T	ENST00000350721.4	-	39	6748	c.6627G>A	c.(6625-6627)gaG>gaA	p.E2209E	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Silent_p.E2145E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					CAACAAACTTCTCTAAGGATT	0.353000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000350721.4	1	1	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	8.292	0.817999	0.16607	.	.	ENSG00000175054	ENST00000513291	T	0.13538	2.58	5.84	1.08	0.20341	.	0.150804	0.64402	D	0.000014	T	0.08133	0.0203	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18935	-1.0321	7	0.07030	T	0.85	-23.6448	9.963	0.41708	0.0:0.3146:0.0:0.6854	.	.	.	.	K	56	ENSP00000424355:E56K	ENSP00000424355:E56K	E	-	1	0	ATR	143669526	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.663000	0.25053	0.491000	0.27793	-0.229000	0.12294	GAA		TCGA-IB-7651-01A-11D-2154-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	0	29	376	0	84	1	8.765277e-01	6	44	0	84	2		0	0	0	0	0	2	1	1	29	374	0	84	2								-7.822428	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.860000	0.580000	1.000000	1.000000	0.854130	0.860000	1	7.100000e-01	1
ATR	545	broad.mit.edu	37	3	142212021	142212021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142212021C>T	ENST00000350721.4	-	35	6152	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K	ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					GCTGTTTCTTCCATAAATCGG	0.353000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000350721.4	1	1	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	36	5.767804	0.96914	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.69806	-0.43;-0.43	5.71	5.71	0.89125	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78976	-0.1991	10	0.29301	T	0.29	-7.6986	19.8635	0.96793	0.0:1.0:0.0:0.0	.	2011	Q13535	ATR_HUMAN	K	2011;1947	ENSP00000343741:E2011K;ENSP00000372581:E1947K	ENSP00000343741:E2011K	E	-	1	0	ATR	143694711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	2.700000	0.92200	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	0	1	51	210	0	61	1	9.852667e-01	4	26	0	61	2		0	0	0	0	0	2	1	1	49	205	0	61	2								-3.402940	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATR	545	broad.mit.edu	37	3	142232395	142232395	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142232395G>T	ENST00000350721.4	-	26	4710	c.4589C>A	c.(4588-4590)cCa>cAa	p.P1530Q	ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					CAGAATATGTGGAAGAAGATA	0.358000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000350721.4	1	1	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669772	0.88348	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.39056	1.1;1.1	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74842	-0.3527	10	0.87932	D	0	-13.4082	18.397	0.90502	0.0:0.0:1.0:0.0	.	1530	Q13535	ATR_HUMAN	Q	1530;1466	ENSP00000343741:P1530Q;ENSP00000372581:P1466Q	ENSP00000343741:P1530Q	P	-	2	0	ATR	143715085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.415000	0.81967	0.491000	0.48974	CCA		TCGA-IB-7651-01A-11D-2154-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1	57	281	0	91	1	9.523281e-01	3	24	0	91	2		0	0	0	0	0	2	1	1	56	276	0	90	2								-2.701243	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATR	545	broad.mit.edu	37	3	142241618	142241618	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142241618C>T	ENST00000350721.4	-	23	4339	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	ATR_ENST00000383101.3_Silent_p.A1342A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					TATCAGCATACGCAAGGTAAG	0.363000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000350721.4	1	1	hg19	CCDS3124.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	0	1	44	480	0	98	1	7.763303e-01	7	26	0	98	2		0	0	0	0	0	2	1	1	43	468	0	97	2								-11.731710	1	0	121412	3	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.730000	1.000000	1.000000	0.947878	0.990000	1	8.600000e-01	1
ATR	545	broad.mit.edu	37	3	142242863	142242863	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142242863T>C	ENST00000350721.4	-	22	4245	c.4124A>G	c.(4123-4125)gAa>gGa	p.E1375G	ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					TCCTTGAGTTTCAGTTGTTGA	0.393000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000350721.4	1	1	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027794	0.54790	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.05925	3.37;3.85	5.39	5.39	0.77823	Armadillo-like helical (1);	0.285567	0.39475	N	0.001353	T	0.05823	0.0152	N	0.24115	0.695	0.49051	D	0.999744	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.23891	T	0.37	-9.1976	15.69	0.77442	0.0:0.0:0.0:1.0	.	1375	Q13535	ATR_HUMAN	G	1375;1311	ENSP00000343741:E1375G;ENSP00000372581:E1311G	ENSP00000343741:E1375G	E	-	2	0	ATR	143725553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.812000	0.69194	2.150000	0.67090	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	0	0	17	534	0	134	0	2.899755e-01	0	33	0	134	2		0	0	0	0	0	2	1	9.999619e-01	17	528	0	131	2								-3.724358	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.370000	0.220000	1.000000	0.370000	0.416382	0.370000	0	2.900000e-01	4.900000e-01
ATR	545	broad.mit.edu	37	3	142269047	142269047	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142269047C>A	ENST00000350721.4	-	14	3024	c.2903G>T	c.(2902-2904)aGa>aTa	p.R968I	ATR_ENST00000383101.3_Missense_Mutation_p.R904I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					AGCCATTTCTCTCTGGTGAGC	0.403000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000350721.4	1	1	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571103	0.65765	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.70282	-0.47;-0.47	5.47	4.41	0.53225	Armadillo-like helical (1);Armadillo-type fold (1);	0.052909	0.85682	D	0.000000	T	0.53302	0.1788	N	0.24115	0.695	0.80722	D	1	P	0.39216	0.664	B	0.34242	0.178	T	0.53027	-0.8496	10	0.17832	T	0.49	-18.6483	15.1389	0.72595	0.0:0.9203:0.0:0.0797	.	968	Q13535	ATR_HUMAN	I	968;904	ENSP00000343741:R968I;ENSP00000372581:R904I	ENSP00000343741:R968I	R	-	2	0	ATR	143751737	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.959000	0.70339	2.561000	0.86390	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1	74	375	0	82	1	9.483823e-01	5	22	0	82	2		0	0	0	0	0	2	1	1	69	368	0	82	2								-2.855637	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATR	545	broad.mit.edu	37	3	142281779	142281779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142281779G>T	ENST00000350721.4	-	4	586	c.465C>A	c.(463-465)gaC>gaA	p.D155E	ATR_ENST00000383101.3_Missense_Mutation_p.D155E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					GGTAAACCAAGTCTTCAAAAA	0.353000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000350721.4	1	1	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546167	0.45383	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66099	-0.19;-0.19	5.78	-2.14	0.07123	Armadillo-type fold (1);	0.051870	0.64402	D	0.000001	T	0.50616	0.1626	M	0.63428	1.95	0.26028	N	0.981785	B	0.33857	0.429	B	0.27608	0.081	T	0.46317	-0.9200	10	0.23891	T	0.37	-14.3611	13.4513	0.61172	0.6071:0.0:0.3929:0.0	.	155	Q13535	ATR_HUMAN	E	155	ENSP00000343741:D155E;ENSP00000372581:D155E	ENSP00000343741:D155E	D	-	3	2	ATR	143764469	0.998000	0.40836	0.990000	0.47175	0.974000	0.67602	0.455000	0.21843	-0.237000	0.09739	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1	85	468	0	122	0	6.578065e-01	1	13	0	122	2		0	0	0	0	0	2	1	1	85	465	0	121	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLS1	5357	broad.mit.edu	37	3	142408575	142408575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142408575C>T	ENST00000337777.3	+	10	1310	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V	PLS1_ENST00000457734.2_Missense_Mutation_p.A366V|PLS1_ENST00000497002.1_Missense_Mutation_p.A366V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1			27					CTTAATTTAGCTTTTGTAGCT	0.408000																								0							SO:0001583	missense			ENST00000337777.3	1	1	hg19	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370985	0.95923	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95272	-3.66;-3.66;-3.66	5.73	5.73	0.89815	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.94847	3.59	0.80722	D	1	D	0.61080	0.989	P	0.48982	0.597	D	0.97934	1.0322	10	0.87932	D	0	-14.021	19.8966	0.96963	0.0:1.0:0.0:0.0	.	366	Q14651	PLSI_HUMAN	V	366	ENSP00000387890:A366V;ENSP00000336831:A366V;ENSP00000418700:A366V	ENSP00000336831:A366V	A	+	2	0	PLS1	143891265	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.748000	0.85085	2.700000	0.92200	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	1	0	1	83	350	0	60	1	1	68	108	0	60	2		0	0	0	0	0	2	1	1	82	344	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLS1	5357	broad.mit.edu	37	3	142430842	142430842	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142430842T>C	ENST00000337777.3	+	16	2096	c.1883T>C	c.(1882-1884)aTa>aCa	p.I628T	PLS1_ENST00000457734.2_Missense_Mutation_p.I628T|PLS1_ENST00000497002.1_Missense_Mutation_p.I628T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1			27					CTGAACAGAATAAAATAATCA	0.373000																								0							SO:0001583	missense			ENST00000337777.3	1	1	hg19	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486437	0.44147	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	T;T;T	0.51071	0.72;0.72;0.72	5.69	5.69	0.88448	.	0.492528	0.25701	N	0.028867	T	0.34687	0.0906	N	0.14661	0.345	0.32581	N	0.528457	B	0.09022	0.002	B	0.08055	0.003	T	0.44574	-0.9319	10	0.87932	D	0	-4.7218	15.9507	0.79835	0.0:0.0:0.0:1.0	.	628	Q14651	PLSI_HUMAN	T	628	ENSP00000387890:I628T;ENSP00000336831:I628T;ENSP00000418700:I628T	ENSP00000336831:I628T	I	+	2	0	PLS1	143913532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.051000	0.49885	2.178000	0.69098	0.454000	0.30748	ATA		TCGA-IB-7651-01A-11D-2154-08	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	1	0	1	110	448	0	104	1	1	106	118	0	104	2		0	0	0	0	0	2	1	1	105	440	0	104	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC1	7220	broad.mit.edu	37	3	142443464	142443464	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142443464C>A	ENST00000476941.1	+	1	549	c.63C>A	c.(61-63)tcC>tcA	p.S21S	TRPC1_ENST00000273482.6_Silent_p.S21S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1			37					ccctgccttcctctccatcct	0.642000																								0							SO:0001819	synonymous_variant			ENST00000476941.1	1	1	hg19	CCDS58856.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	1	0	1	32	99	0	26	0	4.594872e-01	1	5	0	26	2		0	0	0	0	0	2	1	1	30	98	0	26	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC1	7220	broad.mit.edu	37	3	142467232	142467232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142467232C>T	ENST00000476941.1	+	4	1048	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	TRPC1_ENST00000273482.6_Missense_Mutation_p.P154S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1			37					TCTACCCAAGCCCCATGCAGT	0.383000																								0							SO:0001583	missense			ENST00000476941.1	1	1	hg19	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038560	0.93630	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;T	0.81499	-1.5;0.66	5.59	5.59	0.84812	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93472	0.6820	10	0.87932	D	0	-24.4598	19.5934	0.95525	0.0:1.0:0.0:0.0	.	188;154	P48995;P48995-2	TRPC1_HUMAN;.	S	188;154	ENSP00000419313:P188S;ENSP00000273482:P154S	ENSP00000273482:P154S	P	+	1	0	TRPC1	143949922	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.461000	0.80834	2.641000	0.89580	0.460000	0.39030	CCC		TCGA-IB-7651-01A-11D-2154-08	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	1	0	1	172	649	0	158	1	9.511276e-01	5	16	0	158	2		0	0	0	0	0	2	1	1	168	641	0	157	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN6	27255	broad.mit.edu	37	3	1424997	1424997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1424997G>T	ENST00000446702.2	+	19	3049	c.2422G>T	c.(2422-2424)Gga>Tga	p.G808*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*			Q9UQ52	CNTN6_HUMAN	contactin 6			90		all_cancers(2;0.000164)|all_epithelial(2;0.107)			GGCCCCAAGGGGAACTTCTCT	0.433000																								0							SO:0001587	stop_gained			ENST00000446702.2	0	1	hg19	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	42	9.272061	0.99120	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.58	3.8	0.43715	.	0.229512	0.30547	N	0.009391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.3055	0.54900	0.1271:0.0:0.8729:0.0	.	.	.	.	X	808;736;808	.	ENSP00000341882:G808X	G	+	1	0	CNTN6	1399997	0.996000	0.38824	0.339000	0.25562	0.227000	0.25037	2.570000	0.45981	0.751000	0.32900	-0.469000	0.05056	GGA		TCGA-IB-7651-01A-11D-2154-08	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	1	0	1	202	957	0	208		0	0	0	0	208	2		0	0	0	0	0	2	1	1	200	942	0	206	2								-2.972779	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC1	7220	broad.mit.edu	37	3	142522866	142522866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142522866C>T	ENST00000476941.1	+	11	2291	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	TRPC1_ENST00000273482.6_Missense_Mutation_p.A568V|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1			37					TTCTCCTTAGCGCATGTGGCA	0.383000																								0							SO:0001583	missense			ENST00000476941.1	1	1	hg19	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115998	0.37339	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98567	-5.0;-5.0	5.33	5.33	0.75918	Ion transport (1);	0.051544	0.85682	D	0.000000	D	0.95906	0.8667	N	0.25789	0.76	0.80722	D	1	D;D;B	0.59767	0.966;0.986;0.132	P;P;B	0.51355	0.575;0.667;0.016	D	0.94098	0.7359	10	0.02654	T	1	-23.4818	14.266	0.66118	0.1489:0.8511:0.0:0.0	.	568;602;568	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	V	602;568;121	ENSP00000419313:A602V;ENSP00000273482:A568V	ENSP00000273482:A568V	A	+	2	0	TRPC1	144005556	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.572000	0.82409	2.654000	0.90174	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	1	0	1	37	181	0	48	0	5.797189e-01	0	11	0	48	2		0	0	0	0	0	2	1	1	37	177	0	48	2								-19.848830	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PCOLCE2	26577	broad.mit.edu	37	3	142537272	142537272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142537272C>T	ENST00000295992.3	-	9	1459	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PCOLCE2_ENST00000485766.1_3'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2			32					CCTCGCCCATCTTCACCTACT	0.353000																								0							SO:0001583	missense			ENST00000295992.3	1	1	hg19	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004047	0.93287	.	.	ENSG00000163710	ENST00000295992	T	0.30981	1.51	5.06	5.06	0.68205	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.099828	0.64402	D	0.000002	T	0.31482	0.0798	L	0.48642	1.525	0.80722	D	1	B	0.19583	0.037	B	0.28305	0.088	T	0.09271	-1.0682	10	0.16420	T	0.52	-22.7218	18.4156	0.90568	0.0:1.0:0.0:0.0	.	385	Q9UKZ9	PCOC2_HUMAN	N	385	ENSP00000295992:D385N	ENSP00000295992:D385N	D	-	1	0	PCOLCE2	144019962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.978000	0.76147	2.351000	0.79841	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	1	0	1	96	356	0	76	1	9.854409e-01	12	15	0	76	2		0	0	0	0	0	2	1	1	95	352	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAQR9	344838	broad.mit.edu	37	3	142681742	142681742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681742G>A	ENST00000340634.3	-	1	436	c.437C>T	c.(436-438)tCg>tTg	p.S146L	RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX			22					CAGACGCAGCGACAGGCAGCT	0.637000																								0							SO:0001583	missense			ENST00000340634.3	1	1	hg19	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225335	0.79576	.	.	ENSG00000188582	ENST00000340634	T	0.37235	1.21	4.62	4.62	0.57501	.	0.095555	0.44285	D	0.000468	T	0.61887	0.2383	M	0.75447	2.3	0.50813	D	0.999891	D	0.89917	1.0	D	0.85130	0.997	T	0.67875	-0.5557	10	0.87932	D	0	-20.5751	17.8396	0.88711	0.0:0.0:1.0:0.0	.	146	Q6ZVX9	PAQR9_HUMAN	L	146	ENSP00000341564:S146L	ENSP00000341564:S146L	S	-	2	0	PAQR9	144164432	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.610000	0.82949	2.277000	0.76020	0.462000	0.41574	TCG		TCGA-IB-7651-01A-11D-2154-08	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	1	0	1	25	167	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	9.999999e-01	25	165	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998841	0.990000	1	9.900000e-01	1
PAQR9	344838	broad.mit.edu	37	3	142681855	142681855	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681855G>A	ENST00000340634.3	-	1	323	c.324C>T	c.(322-324)agC>agT	p.S108S	RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX			22					CGTCGCCGCCGCTCAGGAAGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000340634.3	1	1	hg19	CCDS3128.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	1	0	1	52	171	0	40	0	5.628319e-02	0	2	0	40	2		0	0	0	0	0	2	1	1	50	165	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHST2	9435	broad.mit.edu	37	3	142840537	142840537	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840537G>T	ENST00000309575.3	+	2	2263	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2			22					GTTTCGAGGAGGAGTGCCGCA	0.662000																								0							SO:0001583	missense			ENST00000309575.3	1	1	hg19	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592743	0.66219	.	.	ENSG00000175040	ENST00000309575	D	0.96554	-4.05	4.38	0.464	0.16706	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.96065	0.8718	L	0.53561	1.675	0.39569	D	0.969251	D	0.61080	0.989	D	0.64321	0.924	D	0.93768	0.7072	10	0.45353	T	0.12	-18.7552	8.4754	0.33009	0.3951:0.0:0.6049:0.0	.	293	Q9Y4C5	CHST2_HUMAN	D	293	ENSP00000307911:E293D	ENSP00000307911:E293D	E	+	3	2	CHST2	144323227	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	0.494000	0.22467	0.143000	0.18926	-0.481000	0.04817	GAG		TCGA-IB-7651-01A-11D-2154-08	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	1	0	1	18	57	0	16	1	9.999982e-01	34	52	0	16	2		0	0	0	0	0	2	1	9.999919e-01	17	57	0	16	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
CHST2	9435	broad.mit.edu	37	3	142840749	142840749	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840749A>G	ENST00000309575.3	+	2	2475	c.1091A>G	c.(1090-1092)cAc>cGc	p.H364R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2			22					CCGCGAGCTCACCGCATGCCC	0.701000																								0							SO:0001583	missense			ENST00000309575.3	1	1	hg19	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	A	7.906	0.735448	0.15574	.	.	ENSG00000175040	ENST00000309575	D	0.96073	-3.9	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.077814	0.51477	D	0.000090	D	0.84520	0.5490	N	0.02802	-0.49	0.40449	D	0.980125	B	0.06786	0.001	B	0.09377	0.004	T	0.79374	-0.1830	10	0.10636	T	0.68	-0.7931	8.6097	0.33795	0.9136:0.0:0.0864:0.0	.	364	Q9Y4C5	CHST2_HUMAN	R	364	ENSP00000307911:H364R	ENSP00000307911:H364R	H	+	2	0	CHST2	144323439	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.052000	0.76634	1.882000	0.54519	0.334000	0.21626	CAC		TCGA-IB-7651-01A-11D-2154-08	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	0	0	0	10	250	0	31	1	7.553122e-01	3	66	0	31	2		0	0	0	0	0	2	1	9.965307e-01	10	242	0	30	2								-16.131170	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.480000	0.240000	1.000000	0.440000	0.516328	0.480000	0	3.400000e-01	6.700000e-01
C3orf58	205428	broad.mit.edu	37	3	143691407	143691407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143691407G>A	ENST00000315691.3	+	1	768	c.233G>A	c.(232-234)gGc>gAc	p.G78D	C3orf58_ENST00000441925.2_5'Flank|C3orf58_ENST00000495414.1_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58			21					GAGGCGTGGGGCCGCTTGCGC	0.682000																								0							SO:0001583	missense			ENST00000315691.3	1	1	hg19	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641408	0.67244	.	.	ENSG00000181744	ENST00000315691	T	0.29917	1.55	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.41236	1.265	0.80722	D	1	D	0.54964	0.969	P	0.54431	0.752	T	0.05869	-1.0859	10	0.09590	T	0.72	.	15.8889	0.79276	0.0:0.0:1.0:0.0	.	78	Q8NDZ4	CC058_HUMAN	D	78	ENSP00000320081:G78D	ENSP00000320081:G78D	G	+	2	0	C3orf58	145174097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.437000	0.90302	1.981000	0.57761	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	1	0	1	56	282	0	59	1	7.691304e-01	3	13	0	59	2		0	0	0	0	0	2	1	1	56	280	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf58	205428	broad.mit.edu	37	3	143704517	143704517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704517G>A	ENST00000315691.3	+	2	1325	c.790G>A	c.(790-792)Gct>Act	p.A264T	C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58			21					AGTTGACCTCGCTTGGCAATT	0.418000																								0							SO:0001583	missense			ENST00000315691.3	1	1	hg19	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328449	0.95733	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.58652	0.32	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.982	T	0.80623	-0.1300	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	55;264	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	T	264;55;70;26	ENSP00000320081:A264T	ENSP00000320081:A264T	A	+	1	0	C3orf58	145187207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.392000	0.81423	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	1	0	1	177	755	0	166	1	1	22	103	0	166	2		0	0	0	0	0	2	1	1	173	739	0	164	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf58	205428	broad.mit.edu	37	3	143704586	143704586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704586G>A	ENST00000315691.3	+	2	1394	c.859G>A	c.(859-861)Gac>Aac	p.D287N	C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58			21					CTACCTCCTGGACGTCAGCTT	0.403000																								0							SO:0001583	missense			ENST00000315691.3	1	1	hg19	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281599	0.95489	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.55052	0.54	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.981	T	0.78130	-0.2324	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	78;287	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	N	287;78;93;49	ENSP00000320081:D287N	ENSP00000320081:D287N	D	+	1	0	C3orf58	145187276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	1	0	1	82	820	0	143	1	9.915845e-01	7	67	0	143	2		0	0	0	0	0	2	1	1	82	807	0	143	2								-19.939930	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.985882	0.990000	1	9.600000e-01	1
C3orf58	205428	broad.mit.edu	37	3	143708593	143708593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143708593G>A	ENST00000315691.3	+	3	1738	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Silent_p.E192E	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58			21					TGCTGGATGAGTGTGCCAACC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000315691.3	1	1	hg19	CCDS3130.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	1	0	1	64	296	0	74	1	9.999944e-01	15	69	0	74	2		0	0	0	0	0	2	1	1	63	286	0	73	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A6	6533	broad.mit.edu	37	3	14489097	14489097	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489097C>A	ENST00000454876.2	+	5	701	c.372C>A	c.(370-372)ggC>ggA	p.G124G	SLC6A6_ENST00000360861.3_Silent_p.G124G|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Silent_p.G124G			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6			28					CAGGTATCGGCTATGCCTCCG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000454876.2	1	1	hg19	CCDS33705.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	1	0	1	461	1906	0	524	1	1	16	254	0	524	2		0	0	0	0	0	2	1	1	453	1876	0	515	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A6	6533	broad.mit.edu	37	3	14489241	14489241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489241G>A	ENST00000454876.2	+	5	845	c.516G>A	c.(514-516)atG>atA	p.M172I	SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.M172I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6			28					CTCACTGCATGGAGGACACCA	0.562000																								0							SO:0001583	missense			ENST00000454876.2	0	1	hg19	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408703	0.42715	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.73681	-0.77;-0.77;-0.77	4.89	4.89	0.63831	.	0.422227	0.27518	N	0.019004	T	0.44201	0.1282	N	0.00327	-1.64	0.46396	D	0.999026	B	0.02656	0.0	B	0.04013	0.001	T	0.46857	-0.9161	10	0.35671	T	0.21	.	18.0716	0.89408	0.0:0.0:1.0:0.0	.	172	P31641	SC6A6_HUMAN	I	172	ENSP00000398063:M172I;ENSP00000354107:M172I;ENSP00000401167:M172I	ENSP00000354107:M172I	M	+	3	0	SLC6A6	14464245	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.810000	0.55613	2.268000	0.75426	0.404000	0.27445	ATG		TCGA-IB-7651-01A-11D-2154-08	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	0	0	0	28	753	0	175	1	9.993656e-01	2	299	0	175	2		0	0	0	0	0	2	1	1	26	746	0	174	2								-3.101065	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.430000	0.280000	1.000000	0.430000	0.467139	0.430000	0	3.500000e-01	5.400000e-01
SLC6A6	6533	broad.mit.edu	37	3	14518771	14518771	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518771G>T	ENST00000454876.2	+	11	1597	c.1268G>T	c.(1267-1269)aGg>aTg	p.R423M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6			28					TCCTTCCTAAGGAAGGGTTAT	0.532000																								0							SO:0001583	missense			ENST00000454876.2	1	1	hg19	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325558	0.81580	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.76060	-0.99;-0.99	4.73	4.73	0.59995	.	0.132495	0.64402	D	0.000002	D	0.87313	0.6146	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89565	0.3809	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	423	P31641	SC6A6_HUMAN	M	423	ENSP00000398063:R423M;ENSP00000354107:R423M	ENSP00000354107:R423M	R	+	2	0	SLC6A6	14493775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.325000	0.78763	0.491000	0.48974	AGG		TCGA-IB-7651-01A-11D-2154-08	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	1	0	1	94	380	0	74	1	1	2	329	0	74	2		0	0	0	0	0	2	1	1	93	376	0	74	2								-3.206273	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A6	6533	broad.mit.edu	37	3	14518786	14518786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518786G>A	ENST00000454876.2	+	11	1612	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6			28					GGTTATCGTCGGGAAATCTTC	0.517000																								0							SO:0001583	missense			ENST00000454876.2	1	1	hg19	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526231	0.96431	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	D;D	0.81821	-1.54;-1.54	4.73	4.73	0.59995	.	0.110564	0.64402	D	0.000008	D	0.90442	0.7007	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.92445	0.5965	10	0.87932	D	0	.	18.0768	0.89430	0.0:0.0:1.0:0.0	.	428	P31641	SC6A6_HUMAN	Q	428	ENSP00000398063:R428Q;ENSP00000354107:R428Q	ENSP00000354107:R428Q	R	+	2	0	SLC6A6	14493790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.779000	0.99018	2.325000	0.78763	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	1	0	1	95	346	0	66	1	1	6	338	0	66	2		0	0	0	0	0	2	1	1	94	342	0	66	2								-3.243348	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A6	6533	broad.mit.edu	37	3	14518805	14518805	+	Silent	SNP	C	C	T	rs145506460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518805C>T	ENST00000454876.2	+	11	1631	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	SLC6A6_ENST00000360861.3_Silent_p.F434F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6			28					TCATCGCCTTCGTGTGTAGCA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000454876.2	1	1	hg19	CCDS33705.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	1	0	0	97	368	0	75	1	1	8	209	0	75	2		0	0	0	0	0	2	1	1	97	361	0	75	2								-3.531742	1	0	121412	1	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIP2	80852	broad.mit.edu	37	3	14547207	14547207	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14547207G>A	ENST00000273083.3	-	0	2553							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2			25					CGTCCTCCGGGGCTCGGTGGG	0.682000																								0											ENST00000273083.3	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	0	0	0	12	47	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.993218e-01	11	46	0	9	2								-19.999700	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999393	0.990000	1	9.900000e-01	1
GRIP2	80852	broad.mit.edu	37	3	14548392	14548392	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14548392C>T	ENST00000273083.3	-	0	2379							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2			25					CGGCGAGAAGCGGGCTGCTGG	0.657000																								0											ENST00000273083.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	0	0	0	15	64	0	13	0	0	0	1	0	13	2		0	0	0	0	0	2	1	9.999274e-01	15	64	0	13	2								-20.000000	1	1	120892	5	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999699	0.990000	1	9.900000e-01	1
GRIP2	80852	broad.mit.edu	37	3	14566999	14566999	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14566999C>T	ENST00000273083.3	-	0	267							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2			25					CCATCCTTGTCGGTGCCACCT	0.617000																								0											ENST00000273083.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	0	0	0	34	298	0	55	0	4.355497e-01	1	13	0	55	2		0	0	0	0	0	2	1	1	33	295	0	54	2								-12.666550	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.990533	0.990000	1	9.900000e-01	1
PLSCR4	57088	broad.mit.edu	37	3	145912991	145912991	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145912991C>T	ENST00000354952.2	-	8	1105	c.865G>A	c.(865-867)Gct>Act	p.A289T	PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T|PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4			17					AAATGGTCAGCATCTGCCATT	0.428000																								0							SO:0001583	missense			ENST00000354952.2	1	1	hg19	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960136	0.34565	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.75	3.87	0.44632	.	0.106971	0.41823	D	0.000804	T	0.34221	0.0890	L	0.49640	1.575	0.31693	N	0.641593	P;P	0.49185	0.58;0.92	B;P	0.50860	0.365;0.652	T	0.41466	-0.9507	10	0.46703	T	0.11	.	7.3351	0.26605	0.1703:0.7433:0.0:0.0864	.	199;289	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	T	289;199;184;289;289	ENSP00000347038:A289T;ENSP00000372561:A199T;ENSP00000415605:A184T;ENSP00000399315:A289T;ENSP00000419040:A289T	ENSP00000347038:A289T	A	-	1	0	PLSCR4	147395681	0.591000	0.26824	0.981000	0.43875	0.012000	0.07955	0.804000	0.27098	1.334000	0.45468	-0.282000	0.10007	GCT		TCGA-IB-7651-01A-11D-2154-08	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	1	0	1	69	341	0	59	1	1	27	161	0	59	2		0	0	0	0	0	2	1	1	68	337	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLSCR2	57047	broad.mit.edu	37	3	146173186	146173186	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:146173186A>G	ENST00000497985.1	-	6	819	c.380T>C	c.(379-381)aTt>aCt	p.I127T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2			15					TGCAAAATAAATCCTCTGCCC	0.353000																								0							SO:0001583	missense			ENST00000497985.1	1	1	hg19	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117965	0.77323	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.25912	1.77;1.77;1.77	3.1	3.1	0.35709	.	0.167404	0.24012	U	0.042371	T	0.46964	0.1420	M	0.85462	2.755	0.25922	N	0.983107	P;P	0.46578	0.88;0.772	P;B	0.54544	0.755;0.345	T	0.43228	-0.9404	10	0.87932	D	0	.	12.3575	0.55184	1.0:0.0:0.0:0.0	.	147;54	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	54;146;127;54	ENSP00000338707:I54T;ENSP00000420132:I127T;ENSP00000418444:I54T	ENSP00000338707:I54T	I	-	2	0	PLSCR2	147655876	0.945000	0.32115	0.003000	0.11579	0.862000	0.49288	8.654000	0.91092	1.653000	0.50694	0.455000	0.32223	ATT		TCGA-IB-7651-01A-11D-2154-08	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	1	0	1	89	409	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	89	404	0	97	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC4	84107	broad.mit.edu	37	3	147108745	147108745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108745G>A	ENST00000383075.3	-	4	1489	c.977C>T	c.(976-978)gCg>gTg	p.A326V	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4			57					GGTACGCGCCGCCACCGCCGC	0.706000																								0							SO:0001583	missense			ENST00000383075.3	1	1	hg19	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812991	0.32053	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11930	2.81;2.79;2.73;2.81;2.81;2.76	5.18	2.38	0.29361	.	0.655713	0.12653	N	0.450327	T	0.04724	0.0128	N	0.02765	-0.5	0.30740	N	0.7463139999999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.41502	-0.9505	9	0.02654	T	1	.	9.5086	0.39062	0.2357:0.0:0.7643:0.0	.	376;326	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	V	326;364;376;326;326;120	ENSP00000372553:A326V;ENSP00000397695:A364V;ENSP00000435509:A376V;ENSP00000417855:A326V;ENSP00000420775:A326V;ENSP00000418277:A120V	ENSP00000372553:A326V	A	-	2	0	ZIC4	148591435	0.000000	0.05858	0.835000	0.33067	0.798000	0.45092	0.609000	0.24238	0.190000	0.20209	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0	31	170	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	30	168	0	32	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
ZIC4	84107	broad.mit.edu	37	3	147108773	147108773	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108773A>G	ENST00000383075.3	-	4	1461	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4			57					GCCACCTGGGACTTGTGGCCG	0.711000																								0							SO:0001583	missense			ENST00000383075.3	1	1	hg19	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031833	0.07543	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.11712	2.82;2.78;2.75;2.82;2.82;2.8	5.18	3.34	0.38264	.	0.305498	0.23266	N	0.050073	T	0.03608	0.0103	N	0.03029	-0.43	0.31564	N	0.657196	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34378	-0.9831	9	0.11182	T	0.66	.	6.6134	0.22763	0.1603:0.0:0.6942:0.1455	.	367;317	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	P	317;355;367;317;317;111	ENSP00000372553:S317P;ENSP00000397695:S355P;ENSP00000435509:S367P;ENSP00000417855:S317P;ENSP00000420775:S317P;ENSP00000418277:S111P	ENSP00000372553:S317P	S	-	1	0	ZIC4	148591463	1.000000	0.71417	0.566000	0.28421	0.106000	0.19336	4.339000	0.59322	0.531000	0.28639	-0.366000	0.07423	TCC		TCGA-IB-7651-01A-11D-2154-08	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	1	27	234	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	27	232	0	35	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.830000	1.000000	1.000000	0.987883	0.990000	1	9.900000e-01	1
ZIC4	84107	broad.mit.edu	37	3	147108846	147108846	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108846C>T	ENST00000383075.3	-	4	1388	c.876G>A	c.(874-876)ccG>ccA	p.P292P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000525172.2_Silent_p.P342P|ZIC4_ENST00000491672.1_Silent_p.P86P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4			57					AGCTGGGCGGCGGCGAGCGCC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000383075.3	1	1	hg19	CCDS43160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	1	60	271	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	59	264	0	52	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC4	84107	broad.mit.edu	37	3	147108909	147108909	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108909G>A	ENST00000383075.3	-	4	1325	c.813C>T	c.(811-813)tgC>tgT	p.C271C	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000525172.2_Silent_p.C321C|ZIC4_ENST00000491672.1_Silent_p.C65C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4			57					AGCACTTGTCGCAGCCCCGCA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000383075.3	1	1	hg19	CCDS43160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0	52	211	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	51	207	0	32	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC4	84107	broad.mit.edu	37	3	147113984	147113984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147113984C>T	ENST00000383075.3	-	3	855	c.343G>A	c.(343-345)Gct>Act	p.A115T	ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4			57					CGGAAGAAAGCGCCAGGACCG	0.677000																								0							SO:0001583	missense			ENST00000383075.3	1	1	hg19	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511829	0.96402	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	4.98	4.98	0.66077	.	0.000000	0.45867	D	0.000338	T	0.72203	0.3431	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.77744	-0.2473	10	0.87932	D	0	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	165;115	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	115;153;165;115;115;115	ENSP00000372553:A115T;ENSP00000397695:A153T;ENSP00000435509:A165T;ENSP00000417855:A115T;ENSP00000420775:A115T;ENSP00000420627:A115T	ENSP00000372553:A115T	A	-	1	0	ZIC4	148596674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	1	66	233	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	66	229	0	53	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC4	84107	broad.mit.edu	37	3	147114031	147114031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114031C>T	ENST00000383075.3	-	3	808	c.296G>A	c.(295-297)gGg>gAg	p.G99E	ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4			57					GTTCATGCCCCCGTAGCCATG	0.692000																								0							SO:0001583	missense			ENST00000383075.3	1	1	hg19	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902339	0.92035	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.98	4.98	0.66077	.	0.000000	0.47093	D	0.000258	T	0.59445	0.2194	M	0.68593	2.085	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.57009	0.621;0.811	T	0.64158	-0.6473	10	0.66056	D	0.02	.	18.2471	0.89989	0.0:1.0:0.0:0.0	.	149;99	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	99;137;149;99;99;99	ENSP00000372553:G99E;ENSP00000397695:G137E;ENSP00000435509:G149E;ENSP00000417855:G99E;ENSP00000420775:G99E;ENSP00000420627:G99E	ENSP00000372553:G99E	G	-	2	0	ZIC4	148596721	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.299000	0.77371	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	1	46	159	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	46	157	0	38	2								-20.000000	1	0	121050	1	23	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC4	84107	broad.mit.edu	37	3	147114110	147114110	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114110C>T	ENST00000383075.3	-	3	729	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	ZIC4_ENST00000473123.1_Missense_Mutation_p.A73T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A123T|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4			57					TCCGGCCGCGCGTACATGTCT	0.716000																								0							SO:0001583	missense			ENST00000383075.3	1	1	hg19	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475912	0.63737	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.01	4.13	0.48395	.	0.364730	0.20039	N	0.100557	T	0.26521	0.0648	L	0.27053	0.805	0.80722	D	1	D;B	0.56746	0.977;0.219	P;B	0.44673	0.457;0.013	T	0.01266	-1.1401	10	0.35671	T	0.21	.	9.2434	0.37511	0.0:0.8383:0.0:0.1617	.	123;73	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	T	73;111;123;73;73;73;73	ENSP00000372553:A73T;ENSP00000397695:A111T;ENSP00000435509:A123T;ENSP00000417855:A73T;ENSP00000420775:A73T;ENSP00000420627:A73T	ENSP00000372553:A73T	A	-	1	0	ZIC4	148596800	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.565000	0.36386	2.321000	0.78463	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1	1	0	0	28	107	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	1	28	103	0	14	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZIC1	7545	broad.mit.edu	37	3	147128517	147128517	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1			63					ACATGGCCGCGCATCACGGCG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000282928.4	1	1	hg19	CCDS3136.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	1	63	203	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	1	63	201	0	61	2								-4.516233	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC1	7545	broad.mit.edu	37	3	147128543	147128543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128543G>A	ENST00000282928.4	+	1	1373	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1			63					GCCTTCTTCCGCTACATGCGC	0.617000																								0							SO:0001583	missense			ENST00000282928.4	1	1	hg19	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585394	0.86748	.	.	ENSG00000152977	ENST00000282928	T	0.47869	0.83	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76870	-0.2799	10	0.87932	D	0	.	16.1009	0.81169	0.0:0.0:1.0:0.0	.	215	Q15915	ZIC1_HUMAN	H	215	ENSP00000282928:R215H	ENSP00000282928:R215H	R	+	2	0	ZIC1	148611233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.763000	0.85283	1.847000	0.53656	0.549000	0.68633	CGC		TCGA-IB-7651-01A-11D-2154-08	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	1	48	197	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	1	47	196	0	62	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC1	7545	broad.mit.edu	37	3	147128793	147128793	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1			63					TGCACACGGGCGAGAAGCCCT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000282928.4	1	1	hg19	CCDS3136.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	0	0	0	21	524	1	110	0	0	0	1	1	110	2		0	0	0	0	0	2	1	7.802199e-01	21	516	1	109	17								-2.414638	0	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.460000	0.290000	1.000000	0.460000	0.501315	0.460000	0	3.700000e-01	6.000000e-01
ZIC1	7545	broad.mit.edu	37	3	147131179	147131179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131179G>A	ENST00000282928.4	+	3	1914	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1			63					AGCCTTCGCCGGCCGCCAGCT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000282928.4	1	1	hg19	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311996	0.23821	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.37	-2.35	0.06684	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30208	-0.9986	4	.	.	.	.	3.8539	0.08967	0.1738:0.4747:0.2441:0.1074	.	.	.	.	Q	84	.	.	R	+	2	0	ZIC1	148613869	0.105000	0.21958	0.996000	0.52242	0.964000	0.63967	-0.548000	0.06048	-0.442000	0.07190	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	1	102	455	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	101	443	0	88	2								-3.097595	1	1	121412	5	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZIC1	7545	broad.mit.edu	37	3	147131305	147131305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131305G>A	ENST00000282928.4	+	3	2040	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1			63					GCCACAGTGCGCTCTCTTCCA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000282928.4	1	1	hg19	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	8.581	0.882233	0.17467	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.28	1.38	0.22167	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41342	-0.9514	4	.	.	.	.	7.1105	0.25388	0.0951:0.0:0.7362:0.1687	.	.	.	.	H	126	.	.	R	+	2	0	ZIC1	148613995	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.249000	0.51437	-0.041000	0.13558	-0.448000	0.05591	CGC		TCGA-IB-7651-01A-11D-2154-08	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	1	90	409	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	1	87	402	0	91	2								-3.386169	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf20	84077	broad.mit.edu	37	3	14798938	14798938	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20			40					CAGACTGCCCGCTGGTGCTGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000253697.3	1	1	hg19	CCDS33706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	1	0	1	70	246	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	70	244	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPB1	1360	broad.mit.edu	37	3	148575278	148575278	+	Missense_Mutation	SNP	C	C	A	rs149931188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148575278C>A	ENST00000491148.1	+	11	1350	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|CPB1_ENST00000498639.1_3'UTR			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)			38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		AAAGAACTTGCCTCACTGCAC	0.448000																								0							SO:0001583	missense			ENST00000491148.1	1	1	hg19	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769244	0.49680	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.11277	2.79;2.79	5.89	5.0	0.66597	Peptidase M14, carboxypeptidase A (2);	0.487974	0.24810	N	0.035419	T	0.13114	0.0318	L	0.55103	1.725	0.37101	D	0.899904	P	0.45634	0.863	B	0.41666	0.363	T	0.20338	-1.0278	10	0.17832	T	0.49	.	15.0493	0.71854	0.1431:0.8569:0.0:0.0	.	339	P15086	CBPB1_HUMAN	D	339	ENSP00000417222:A339D;ENSP00000282957:A339D	ENSP00000282957:A339D	A	+	2	0	CPB1	150057968	0.123000	0.22298	0.064000	0.19789	0.366000	0.29705	3.589000	0.53972	1.452000	0.47756	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	1	0	1	37	208	0	43	1	1	2	6217	0	43	2		0	0	0	0	0	2	1	1	37	204	0	43	2								-18.541800	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
FGD5	152273	broad.mit.edu	37	3	14862336	14862336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5			54					TCTCTCTGTCGTGTGTAATTG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000285046.5	1	1	hg19	CCDS46767.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	1	0	1	70	265	0	50	1	9.999908e-01	24	43	0	50	2		0	0	0	0	0	2	1	1	69	262	0	49	2								-20.000000	1	1	120908	2	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HPS3	84343	broad.mit.edu	37	3	148868428	148868428	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148868428A>G	ENST00000296051.2	+	6	1346	c.1206A>G	c.(1204-1206)gcA>gcG	p.A402A	HPS3_ENST00000460120.1_Silent_p.A237A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3			34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		GTGCGGCGGCAGCTCGTGAGG	0.517000									Hermansky-Pudlak syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	ENST00000296051.2	1	1	hg19	CCDS3140.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	1	0	1	56	292	0	60	1	9.999600e-01	9	70	0	60	2		0	0	0	0	0	2	1	1	54	286	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HPS3	84343	broad.mit.edu	37	3	148880586	148880586	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148880586A>G	ENST00000296051.2	+	13	2542	c.2402A>G	c.(2401-2403)aAa>aGa	p.K801R	HPS3_ENST00000460120.1_Missense_Mutation_p.K636R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3			34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		CTCTTTTTCAAACTCACATCA	0.453000									Hermansky-Pudlak syndrome															0							SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	ENST00000296051.2	1	1	hg19	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	3.997	-0.003406	0.07773	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63096	-0.02;-0.02	5.86	5.86	0.93980	.	0.100378	0.64402	D	0.000003	T	0.39911	0.1096	N	0.12746	0.255	0.80722	D	1	B;B	0.22276	0.013;0.067	B;B	0.18263	0.015;0.021	T	0.34453	-0.9828	10	0.10636	T	0.68	-26.16	10.8737	0.46899	0.9213:0.0:0.0787:0.0	.	636;801	G5E9V4;Q969F9	.;HPS3_HUMAN	R	801;636	ENSP00000296051:K801R;ENSP00000418230:K636R	ENSP00000296051:K801R	K	+	2	0	HPS3	150363276	1.000000	0.71417	0.999000	0.59377	0.066000	0.16364	4.735000	0.62051	2.242000	0.73789	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	1	0	1	104	375	0	84	1	1	6	86	0	84	2		0	0	0	0	0	2	1	1	102	367	0	83	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CP	1356	broad.mit.edu	37	3	148895751	148895751	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148895751A>G	ENST00000264613.6	-	17	3156	c.2894T>C	c.(2893-2895)aTg>aCg	p.M965T		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)			44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)	Drotrecogin alfa(DB00055)	GTTTCCAAACATTCTTCCATT	0.343000																								0							SO:0001583	missense			ENST00000264613.6	1	1	hg19	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137328	0.56936	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99784	-6.74;-6.74;-6.74	5.78	5.78	0.91487	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.236543	0.51477	D	0.000095	D	0.98839	0.9608	N	0.16201	0.385	0.51012	D	0.999904	B;P;B;B	0.39404	0.074;0.672;0.158;0.137	B;P;B;B	0.45474	0.096;0.482;0.135;0.276	D	0.99958	1.1678	10	0.33940	T	0.23	-8.8801	16.1149	0.81301	1.0:0.0:0.0:0.0	.	965;965;965;678	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	T	100;965;748	ENSP00000420367:M100T;ENSP00000264613:M965T;ENSP00000420545:M748T	ENSP00000264613:M965T	M	-	2	0	CP	150378441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.317000	0.96327	2.205000	0.71048	0.455000	0.32223	ATG		TCGA-IB-7651-01A-11D-2154-08	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	1	0	1	92	403	0	90	1	1	13	259	0	90	2		0	0	0	0	0	2	1	1	92	393	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CP	1356	broad.mit.edu	37	3	148925405	148925405	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148925405C>A	ENST00000264613.6	-	5	1044		c.e5-1			NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)			44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)	Drotrecogin alfa(DB00055)	CCATTCACAGCTGTAAGTCAA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000264613.6	1	1	hg19	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115059	0.77210	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CP	150408095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.367000	0.79558	2.866000	0.98385	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	0	0	1	42	234	1	68	0	2.439339e-02	1	1	1	68	2		0	0	0	0	0	2	1	9.999798e-01	42	230	1	68	14								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
CP	1356	broad.mit.edu	37	3	148939510	148939510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148939510A>G	ENST00000264613.6	-	1	332	c.70T>C	c.(70-72)Tat>Cat	p.Y24H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)			44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)	Drotrecogin alfa(DB00055)	CCAATGTAATAATGCTTTTCT	0.353000																								0							SO:0001583	missense			ENST00000264613.6	1	1	hg19	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830786	0.71258	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.99735	-5.42;-6.58	5.2	5.2	0.72013	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	L	0.60904	1.88	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98164	1.0448	10	0.62326	D	0.03	-29.6919	14.1762	0.65542	1.0:0.0:0.0:0.0	.	24;24	A8K5A4;P00450	.;CERU_HUMAN	H	24	ENSP00000264613:Y24H;ENSP00000426888:Y24H	ENSP00000264613:Y24H	Y	-	1	0	CP	150422200	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.316000	0.59178	2.097000	0.63578	0.482000	0.46254	TAT		TCGA-IB-7651-01A-11D-2154-08	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	1	0	1	70	280	0	52	1	9.999990e-01	6	77	0	52	2		0	0	0	0	0	2	1	1	68	279	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TM4SF18	116441	broad.mit.edu	37	3	149042779	149042779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149042779C>T	ENST00000296059.2	-	4	563	c.298G>A	c.(298-300)Gga>Aga	p.G100R	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18			3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		AAAGCAATTCCGAGGGAAGAA	0.438000																								0							SO:0001583	missense			ENST00000296059.2	1	1	hg19	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599698	0.87055	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.37235	1.21;1.21;1.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.85777	2.775	0.48571	D	0.999673	D	0.89917	1.0	D	0.97110	1.0	T	0.70403	-0.4881	10	0.87932	D	0	-13.8166	17.8373	0.88701	0.0:1.0:0.0:0.0	.	100	Q96CE8	T4S18_HUMAN	R	100	ENSP00000296059:G100R;ENSP00000419278:G100R;ENSP00000418372:G100R	ENSP00000296059:G100R	G	-	1	0	TM4SF18	150525469	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	4.520000	0.60524	2.745000	0.94114	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	1	0	1	38	166	0	49	0	8.491406e-01	0	17	0	49	2		0	0	0	0	0	2	1	1	37	163	0	49	2								-3.496937	1	1	121412	3	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WWTR1	25937	broad.mit.edu	37	3	149245659	149245659	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149245659G>A	ENST00000465804.1	-	6	1125	c.869C>T	c.(868-870)tCc>tTc	p.S290F	WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F|RNU6-1098P_ENST00000516772.1_RNA|WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1			23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		ATTAGTGATGGATCTCATGTC	0.453000			T	CAMTA1	epitheliod hemangioendothelioma										Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0							SO:0001583	missense			ENST00000465804.1	1	1	hg19	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074916	0.55646	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.50001	0.76;0.76;0.76	5.09	5.09	0.68999	.	0.529823	0.21552	N	0.072719	T	0.37265	0.0997	N	0.17082	0.46	0.34495	D	0.705368	B	0.06786	0.001	B	0.04013	0.001	T	0.46843	-0.9162	10	0.87932	D	0	-13.2046	18.9259	0.92544	0.0:0.0:1.0:0.0	.	290	Q9GZV5	WWTR1_HUMAN	F	290;290;290;148	ENSP00000419465:S290F;ENSP00000353847:S290F;ENSP00000419234:S290F	ENSP00000353847:S290F	S	-	2	0	WWTR1	150728349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.211000	0.77933	2.530000	0.85305	0.644000	0.83932	TCC		TCGA-IB-7651-01A-11D-2154-08	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	0	0	0	34	1049	0	219	1	9.999818e-01	32	467	0	219	2		0	0	0	0	0	2	1	1	32	1022	0	215	2								-3.011177	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.370000	0.260000	1.000000	0.370000	0.414661	0.370000	0	3.100000e-01	4.600000e-01
WWTR1	25937	broad.mit.edu	37	3	149374688	149374688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149374688C>T	ENST00000465804.1	-	3	662	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	WWTR1-AS1_ENST00000479752.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1			23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		TGGCCAGTGGCCGTGAAGGTC	0.647000			T	CAMTA1	epitheliod hemangioendothelioma										Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0							SO:0001583	missense			ENST00000465804.1	1	1	hg19	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640804	0.47153	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.09	4.22	0.49857	WW/Rsp5/WWP (6);	0.229124	0.44483	N	0.000444	T	0.74007	0.3660	L	0.35793	1.09	0.29446	N	0.858803	B	0.06786	0.001	B	0.08055	0.003	T	0.69213	-0.5204	10	0.66056	D	0.02	-13.2993	8.6679	0.34132	0.0:0.634:0.2783:0.0877	.	136	Q9GZV5	WWTR1_HUMAN	T	136	ENSP00000419465:A136T;ENSP00000353847:A136T;ENSP00000419234:A136T;ENSP00000418580:A136T	ENSP00000353847:A136T	A	-	1	0	WWTR1	150857378	0.056000	0.20664	1.000000	0.80357	0.944000	0.59088	0.302000	0.19192	1.135000	0.42183	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	1	0	0	17	190	0	28	1	9.998423e-01	18	149	0	28	2		0	0	0	0	0	2	1	9.999706e-01	17	189	0	28	2								-3.318823	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.600000	1.000000	1.000000	0.914286	0.990000	1	7.700000e-01	1
RNF13	11342	broad.mit.edu	37	3	149589892	149589892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149589892G>A	ENST00000344229.3	+	5	974	c.272G>A	c.(271-273)gGc>gAc	p.G91D	RNF13_ENST00000361785.6_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.G91D	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13			11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		AATTCATCTGGCACTTTCATC	0.308000																								0							SO:0001583	missense			ENST00000344229.3	1	1	hg19	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699002	0.30142	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000490631	T;T;T;T;T;T	0.14391	3.33;3.33;2.51;3.33;3.33;3.33	5.28	5.28	0.74379	Protease-associated domain, PA (1);	0.257441	0.43919	D	0.000519	T	0.13329	0.0323	L	0.56769	1.78	0.44890	D	0.997905	B	0.09022	0.002	B	0.15870	0.014	T	0.07501	-1.0769	10	0.13108	T	0.6	-13.7995	9.7831	0.40660	0.0906:0.0:0.9094:0.0	.	91	O43567	RNF13_HUMAN	D	91	ENSP00000376628:G91D;ENSP00000341361:G91D;ENSP00000420067:G91D;ENSP00000419069:G91D;ENSP00000417655:G91D;ENSP00000417294:G91D	ENSP00000341361:G91D	G	+	2	0	RNF13	151072582	0.033000	0.19621	0.267000	0.24556	0.845000	0.48019	1.079000	0.30766	2.756000	0.94617	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	1	0	1	33	166	0	28	1	1	41	223	0	28	2		0	0	0	0	0	2	1	1	32	165	0	28	2								-3.279328	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
FAM194A	0	broad.mit.edu	37	3	150403768	150403768	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150403768A>G	ENST00000295910.6	-	5	703	c.651T>C	c.(649-651)atT>atC	p.I217I	FAM194A_ENST00000491361.1_Silent_p.I71I	NM_152394.3	NP_689607.2						38					GCTCATATAAAATATTTAGTT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000295910.6	1	1	hg19	CCDS3151.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1	1	0	1	92	389	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	87	382	0	103	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIAH2	6478	broad.mit.edu	37	3	150460089	150460089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460089G>A	ENST00000312960.3	-	2	1341	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2			16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		GTCAATCTCCGCCGGTTCCCA	0.567000																								0							SO:0001583	missense			ENST00000312960.3	1	1	hg19	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039982	0.75732	.	.	ENSG00000181788	ENST00000312960	T	0.27256	1.68	5.81	3.95	0.45737	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.93939	3.475	0.49213	D	0.999767	D	0.89917	1.0	D	0.97110	1.0	T	0.71374	-0.4612	10	0.72032	D	0.01	.	14.2055	0.65732	0.0:0.0:0.4393:0.5607	.	272	O43255	SIAH2_HUMAN	W	272	ENSP00000322457:R272W	ENSP00000322457:R272W	R	-	1	2	SIAH2	151942779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.206000	0.51098	0.726000	0.32339	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	1	0	1	52	255	0	69	1	1	39	162	0	69	2		0	0	0	0	0	2	1	1	51	253	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIAH2	6478	broad.mit.edu	37	3	150460414	150460414	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460414G>A	ENST00000312960.3	-	2	1016	c.489C>T	c.(487-489)taC>taT	p.Y163Y		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2			16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		AGTAGGGACGGTATTCACATA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000312960.3	1	1	hg19	CCDS3152.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	1	0	1	67	278	0	74	1	1	41	102	0	74	2		0	0	0	0	0	2	1	1	65	275	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLRN1	7401	broad.mit.edu	37	3	150645882	150645882	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150645882C>T	ENST00000327047.1	-	3	830	c.540G>A	c.(538-540)acG>acA	p.T180T	CLRN1_ENST00000328863.4_Silent_p.T193T|CLRN1_ENST00000295911.2_Silent_p.T104T|RP11-166N6.2_ENST00000469268.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1			14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		TTTCACTTTGCGTTTTGTAGA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000327047.1	1	1	hg19	CCDS3153.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1	1	0	1	54	220	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	54	219	0	59	2								-20.000000	1	1	121412	3	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR2C2	7182	broad.mit.edu	37	3	15070094	15070094	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15070094C>A	ENST00000425241.1	+	8	1162	c.800C>A	c.(799-801)gCt>gAt	p.A267D	NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000323373.6_Splice_Site_p.A286D|NR2C2_ENST00000393102.3_Splice_Site_p.A267D|NR2C2_ENST00000406272.2_Splice_Site_p.A267D			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2			16					GTTTAATAGGCTGAAACAAGC	0.423000																								0							SO:0001630	splice_region_variant			ENST00000425241.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	15.27	2.783963	0.49891	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.095622	0.85682	D	0.000000	D	0.89663	0.6780	L	0.27053	0.805	0.37836	D	0.928884	B;P	0.40476	0.004;0.718	B;B	0.39299	0.005;0.296	D	0.89087	0.3480	10	0.28530	T	0.3	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	267;286	P49116;F2YGU2	NR2C2_HUMAN;.	D	267;286;267;267	ENSP00000388387:A267D;ENSP00000320447:A286D;ENSP00000376814:A267D;ENSP00000384463:A267D	ENSP00000320447:A286D	A	+	2	0	NR2C2	15045098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.273000	0.43381	2.746000	0.94184	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	1	0	0	8	109	0	34	1	9.068061e-01	10	50	0	34	2		0	0	0	0	0	2	1	9.898348e-01	8	108	0	34	2								-12.547630	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.840000	0.400000	1.000000	1.000000	0.813852	0.840000	0	5.900000e-01	1
MED12L	116931	broad.mit.edu	37	3	150877688	150877688	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877688T>C	ENST00000474524.1	+	7	945	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.S303P|MED12L_ENST00000422248.2_Missense_Mutation_p.S303P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like			128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		CCGGCGTCTTTCCTTGCTGCT	0.557000																								0							SO:0001583	missense			ENST00000474524.1	1	1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552794	0.65425	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.34859	1.34;1.34;1.34	5.41	4.34	0.51931	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.195681	0.44902	D	0.000420	T	0.36936	0.0985	L	0.52573	1.65	0.80722	D	1	B;B;B	0.30361	0.157;0.039;0.277	B;B;B	0.36534	0.14;0.086;0.227	T	0.26744	-1.0094	10	0.87932	D	0	-8.2762	11.1394	0.48394	0.0:0.0:0.4103:0.5897	.	303;303;303	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	P	303	ENSP00000403308:S303P;ENSP00000310760:S303P;ENSP00000417235:S303P	ENSP00000310760:S303P	S	+	1	0	MED12L	152360378	0.991000	0.36638	0.956000	0.39512	0.991000	0.79684	2.493000	0.45320	1.014000	0.39417	0.459000	0.35465	TCC		TCGA-IB-7651-01A-11D-2154-08	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1	203	853	0	193	0	9.746813e-02	0	3	0	193	2		0	0	0	0	0	2	1	1	195	841	0	191	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED12L	116931	broad.mit.edu	37	3	150881752	150881752	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150881752G>T	ENST00000474524.1	+	8	1218	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.G394C|MED12L_ENST00000422248.2_Missense_Mutation_p.G394C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like			128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		CGCAAACCCAGGCTCACCCCT	0.502000																								0							SO:0001583	missense			ENST00000474524.1	0	1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698430	0.88830	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.62941	-0.01;-0.01;-0.01	5.02	5.02	0.67125	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86013	0.1502	10	0.87932	D	0	-15.4266	17.9376	0.89017	0.0:0.0:1.0:0.0	.	394;394;394	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	C	394	ENSP00000403308:G394C;ENSP00000310760:G394C;ENSP00000417235:G394C	ENSP00000310760:G394C	G	+	1	0	MED12L	152364442	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.950000	0.93019	2.317000	0.78254	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	0	0	0	9	333	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	9.937304e-01	9	325	0	59	2								-9.360107	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.330000	0.150000	1.000000	0.310000	0.376135	0.330000	0	2.300000e-01	4.700000e-01
MED12L	116931	broad.mit.edu	37	3	150903146	150903146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150903146G>A	ENST00000474524.1	+	11	1562	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Silent_p.T368T|MED12L_ENST00000309237.4_Silent_p.T508T|MED12L_ENST00000422248.2_Silent_p.T508T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like			128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		CTGTGGTGACGCTGTTATGTG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000474524.1	1	1	hg19	CCDS33876.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1	68	287	0	68	0	0	1	0	0	68	2		0	0	0	0	0	2	1	1	66	278	0	67	2								-3.515782	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR171	29909	broad.mit.edu	37	3	150916725	150916725	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150916725A>C	ENST00000309180.5	-	3	679	c.449T>G	c.(448-450)aTg>aGg	p.M150R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171			15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		GGGAATCATCATATTTGGCAC	0.378000																								0							SO:0001583	missense			ENST00000309180.5	1	1	hg19	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886297	0.72410	.	.	ENSG00000174946	ENST00000309180	T	0.37584	1.19	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.64170	1.965	0.52099	D	0.999944	D	0.76494	0.999	D	0.83275	0.996	T	0.61520	-0.7046	10	0.72032	D	0.01	-34.7026	15.71	0.77620	1.0:0.0:0.0:0.0	.	150	O14626	GP171_HUMAN	R	150	ENSP00000308479:M150R	ENSP00000308479:M150R	M	-	2	0	GPR171	152399415	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	5.406000	0.66357	2.105000	0.64084	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	1	0	1	82	285	0	75	0	9.173105e-01	0	17	0	75	2		0	0	0	0	0	2	1	1	81	284	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY14	9934	broad.mit.edu	37	3	150931407	150931407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931407C>T	ENST00000309170.3	-	3	1010	c.698G>A	c.(697-699)cGc>cAc	p.R233H	P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14			20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		GAATATGTTGCGGCTAGATTT	0.388000																								0							SO:0001583	missense			ENST00000309170.3	1	1	hg19	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263257	0.39995	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.40225	1.04;1.04	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69557	0.3124	M	0.85197	2.74	0.40271	D	0.978282	D	0.89917	1.0	D	0.79108	0.992	T	0.67317	-0.5701	10	0.30854	T	0.27	-24.5079	20.2789	0.98501	0.0:1.0:0.0:0.0	.	233	Q15391	P2Y14_HUMAN	H	233	ENSP00000308361:R233H;ENSP00000408733:R233H	ENSP00000308361:R233H	R	-	2	0	P2RY14	152414097	0.958000	0.32768	1.000000	0.80357	0.496000	0.33645	3.959000	0.56744	2.788000	0.95919	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	1	0	1	109	439	0	102	0	3.428651e-01	0	6	0	102	2		0	0	0	0	0	2	1	1	108	425	0	99	2								-3.515586	1	1	121412	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY14	9934	broad.mit.edu	37	3	150931995	150931995	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931995A>G	ENST00000309170.3	-	3	422	c.110T>C	c.(109-111)aTc>aCc	p.I37T	P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14			20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		ATTGAGTAGGATTCCTGCAAT	0.443000																								0							SO:0001583	missense			ENST00000309170.3	0	1	hg19	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274407	0.23307	.	.	ENSG00000174944	ENST00000309170;ENST00000424796;ENST00000494668	T;T;T	0.40476	1.03;1.03;1.03	5.71	4.55	0.56014	.	0.564366	0.16438	N	0.214433	T	0.25419	0.0618	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.21415	-1.0246	10	0.62326	D	0.03	-9.9284	11.4728	0.50280	0.9299:0.0:0.0701:0.0	.	37	Q15391	P2Y14_HUMAN	T	37	ENSP00000308361:I37T;ENSP00000408733:I37T;ENSP00000418065:I37T	ENSP00000308361:I37T	I	-	2	0	P2RY14	152414685	0.090000	0.21635	0.113000	0.21522	0.470000	0.32858	3.794000	0.55492	0.993000	0.38866	0.477000	0.44152	ATC		TCGA-IB-7651-01A-11D-2154-08	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	0	0	0	14	576	0	117	0	9.467572e-03	0	6	0	117	2		0	0	0	0	0	2	1	9.997126e-01	13	563	0	117	2								-3.126976	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.290000	0.160000	1.000000	0.280000	0.336640	0.290000	0	2.100000e-01	3.900000e-01
GPR87	53836	broad.mit.edu	37	3	151012762	151012762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151012762G>A	ENST00000260843.4	-	3	736	c.272C>T	c.(271-273)aCg>aTg	p.T91M	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87			19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		AAATGTCAGCGTCATTATGAG	0.378000																								0							SO:0001583	missense			ENST00000260843.4	1	1	hg19	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257065	0.39896	.	.	ENSG00000138271	ENST00000260843	T	0.34072	1.38	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.138939	0.49916	D	0.000124	T	0.49150	0.1540	L	0.39020	1.185	0.44373	D	0.997276	D	0.76494	0.999	D	0.68943	0.961	T	0.48768	-0.9006	10	0.87932	D	0	-9.5583	14.5601	0.68130	0.0726:0.0:0.9274:0.0	.	91	Q9BY21	GPR87_HUMAN	M	91	ENSP00000260843:T91M	ENSP00000260843:T91M	T	-	2	0	GPR87	152495452	1.000000	0.71417	0.952000	0.39060	0.331000	0.28603	6.273000	0.72581	2.632000	0.89209	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1	1	0	1	67	292	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	66	291	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY13	53829	broad.mit.edu	37	3	151046196	151046196	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046196A>C	ENST00000325602.5	-	2	667	c.648T>G	c.(646-648)atT>atG	p.I216M	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	p.I195M(1)		14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		CAGTCCAGAAAATAAACTGGC	0.358000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000325602.5	1	1	hg19	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141912	0.57044	.	.	ENSG00000181631	ENST00000325602	T	0.72835	-0.69	5.64	-0.413	0.12363	GPCR, rhodopsin-like superfamily (1);	0.168065	0.52532	D	0.000079	T	0.74703	0.3751	L	0.58969	1.84	0.37738	D	0.925501	D	0.61080	0.989	D	0.71414	0.973	T	0.72184	-0.4367	10	0.45353	T	0.12	-17.9008	6.2401	0.20785	0.3171:0.0:0.5344:0.1485	.	216	Q9BPV8	P2Y13_HUMAN	M	216	ENSP00000320376:I216M	ENSP00000320376:I216M	I	-	3	3	P2RY13	152528886	0.074000	0.21230	0.968000	0.41197	0.958000	0.62258	-0.034000	0.12225	0.112000	0.17975	0.456000	0.33151	ATT		TCGA-IB-7651-01A-11D-2154-08	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	1	0	1	55	244	0	63	0	5.770508e-01	0	10	0	63	2		0	0	0	0	0	2	1	1	52	241	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY13	53829	broad.mit.edu	37	3	151046509	151046509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046509C>T	ENST00000325602.5	-	2	354	c.335G>A	c.(334-336)aGa>aAa	p.R112K	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13			14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		CACAAAAGCTCTGAGCTGCCA	0.453000																								0							SO:0001583	missense			ENST00000325602.5	1	1	hg19	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608147	0.28623	.	.	ENSG00000181631	ENST00000325602	T	0.36520	1.25	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.105580	0.56097	D	0.000035	T	0.20333	0.0489	N	0.12961	0.28	0.09310	N	1	P	0.37083	0.581	B	0.41946	0.371	T	0.31696	-0.9934	10	0.05620	T	0.96	-16.0216	7.5497	0.27788	0.0:0.8056:0.0:0.1944	.	112	Q9BPV8	P2Y13_HUMAN	K	112	ENSP00000320376:R112K	ENSP00000320376:R112K	R	-	2	0	P2RY13	152529199	0.123000	0.22298	0.094000	0.20943	0.688000	0.40055	2.268000	0.43338	2.720000	0.93068	0.557000	0.71058	AGA		TCGA-IB-7651-01A-11D-2154-08	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	1	0	1	79	373	0	88	0	3.568583e-01	0	7	0	88	2		0	0	0	0	0	2	1	1	78	368	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED12L	116931	broad.mit.edu	37	3	151100468	151100468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151100468C>T	ENST00000474524.1	+	31	4548	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like			128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		GAGAGAAGAACGATACCAAGA	0.348000																								0							SO:0001587	stop_gained			ENST00000474524.1	0	1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	45	11.838506	0.99609	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.9	4.05	0.47172	.	0.063424	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7263	13.6449	0.62275	0.4138:0.5862:0.0:0.0	.	.	.	.	X	1504;1364	.	ENSP00000273432:R1364X	R	+	1	2	MED12L	152583158	1.000000	0.71417	0.692000	0.30179	0.958000	0.62258	4.564000	0.60830	0.761000	0.33130	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1	32	153	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	32	151	0	42	2								-18.627570	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
MED12L	116931	broad.mit.edu	37	3	151129262	151129262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151129262C>T	ENST00000474524.1	+	39	6040	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like			128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		CAGCAGGCCTCGCCGTACCTG	0.517000																								0							SO:0001583	missense			ENST00000474524.1	1	1	hg19	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084020	0.55861	.	.	ENSG00000144893	ENST00000474524	T	0.57907	0.37	5.75	5.75	0.90469	Mediator complex, subunit Med12, catenin-binding (1);	0.198038	0.45361	D	0.000371	T	0.45337	0.1337	L	0.29908	0.895	0.80722	D	1	B	0.23591	0.088	B	0.23275	0.045	T	0.36817	-0.9732	10	0.62326	D	0.03	-4.2631	17.7294	0.88373	0.0:1.0:0.0:0.0	.	2001	Q86YW9	MD12L_HUMAN	L	2001	ENSP00000417235:S2001L	ENSP00000417235:S2001L	S	+	2	0	MED12L	152611952	0.197000	0.23362	0.555000	0.28281	0.539000	0.34962	5.434000	0.66526	2.708000	0.92522	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	1	68	413	0	94	0	2.066116e-02	0	2	0	94	2		0	0	0	0	0	2	1	1	66	402	0	93	2								-3.222095	1	1	121412	57	48	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
IGSF10	285313	broad.mit.edu	37	3	151154517	151154517	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151154517A>T	ENST00000282466.3	-	6	7831	c.7832T>A	c.(7831-7833)cTt>cAt	p.L2611H	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10			116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		ATCACTACCAAGTGGGTTCTT	0.383000																								0							SO:0001583	missense			ENST00000282466.3	1	1	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780214	0.70222	.	.	ENSG00000152580	ENST00000282466	T	0.68765	-0.35	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40908	D	0.000993	T	0.70107	0.3186	N	0.20401	0.57	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.969	T	0.71331	-0.4625	10	0.38643	T	0.18	.	15.5146	0.75812	1.0:0.0:0.0:0.0	.	2611;638	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	H	2611	ENSP00000282466:L2611H	ENSP00000282466:L2611H	L	-	2	0	IGSF10	152637207	1.000000	0.71417	0.075000	0.20258	0.984000	0.73092	8.851000	0.92205	2.123000	0.65237	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	0	0	1	122	593	0	128	0	0	1	0	0	128	2		0	0	0	0	0	2	1	1	120	585	0	127	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF10	285313	broad.mit.edu	37	3	151155762	151155762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151155762C>T	ENST00000282466.3	-	6	6586	c.6587G>A	c.(6586-6588)gGg>gAg	p.G2196E	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10			116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		GGTCAAAGACCCATTGGCATG	0.438000																								0							SO:0001583	missense			ENST00000282466.3	1	1	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124812	0.56613	.	.	ENSG00000152580	ENST00000282466	T	0.35421	1.31	5.77	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133232	0.33980	N	0.004362	T	0.65491	0.2696	M	0.85542	2.76	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.969	T	0.73014	-0.4116	10	0.72032	D	0.01	.	16.9292	0.86186	0.0:0.8721:0.1279:0.0	.	2196;223	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	E	2196	ENSP00000282466:G2196E	ENSP00000282466:G2196E	G	-	2	0	IGSF10	152638452	1.000000	0.71417	0.963000	0.40424	0.335000	0.28730	5.731000	0.68554	1.428000	0.47296	0.591000	0.81541	GGG		TCGA-IB-7651-01A-11D-2154-08	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1	80	387	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	78	383	0	94	2								-2.869925	1	1	121412	1	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF10	285313	broad.mit.edu	37	3	151163109	151163109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151163109C>T	ENST00000282466.3	-	4	4659	c.4660G>A	c.(4660-4662)Gca>Aca	p.A1554T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10			116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		GTTGTTAGTGCTGGCATGGGA	0.413000																								0							SO:0001583	missense			ENST00000282466.3	1	1	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725953	0.15439	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68624	-0.34	5.72	1.66	0.24008	.	0.321356	0.21865	N	0.067969	T	0.44138	0.1279	L	0.36672	1.1	0.09310	N	1	B	0.25312	0.123	B	0.24006	0.05	T	0.16070	-1.0415	10	0.07990	T	0.79	.	1.8719	0.03210	0.166:0.4979:0.1608:0.1753	.	1554	Q6WRI0	IGS10_HUMAN	T	1554;181	ENSP00000282466:A1554T	ENSP00000282466:A1554T	A	-	1	0	IGSF10	152645799	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.788000	0.04614	0.333000	0.23563	0.644000	0.83932	GCA		TCGA-IB-7651-01A-11D-2154-08	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1	154	748	0	162	0	7.842338e-02	0	3	0	162	2		0	0	0	0	0	2	1	1	148	734	0	162	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF10	285313	broad.mit.edu	37	3	151165609	151165609	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151165609G>A	ENST00000282466.3	-	4	2159	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10			116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		ATTCCCGATAGTTGTGCCTCT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000282466.3	1	1	hg19	CCDS3160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	0	40	235	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	40	234	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
IGSF10	285313	broad.mit.edu	37	3	151166366	151166366	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151166366A>G	ENST00000282466.3	-	4	1402	c.1403T>C	c.(1402-1404)gTg>gCg	p.V468A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10			116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		TTTGTGTTTCACTGGCCTCAT	0.463000																								0							SO:0001583	missense			ENST00000282466.3	1	1	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019859	0.07634	.	.	ENSG00000152580	ENST00000282466	T	0.67345	-0.26	5.08	-5.93	0.02254	Immunoglobulin-like (1);	0.951725	0.08579	N	0.924933	T	0.34948	0.0915	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.38394	-0.9663	10	0.05620	T	0.96	.	3.7276	0.08481	0.2819:0.4251:0.0666:0.2264	.	468	Q6WRI0	IGS10_HUMAN	A	468	ENSP00000282466:V468A	ENSP00000282466:V468A	V	-	2	0	IGSF10	152649056	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.406000	0.07187	-0.821000	0.04312	0.454000	0.30748	GTG		TCGA-IB-7651-01A-11D-2154-08	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1	116	527	0	137		0	0	0	0	137	2		0	0	0	0	0	2	1	1	116	522	0	137	2								-20.000000	1	1	121412	3	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFYVE20	64145	broad.mit.edu	37	3	15118571	15118571	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15118571G>T	ENST00000253699.3	-	12	1712	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K|ZFYVE20_ENST00000449964.2_5'Flank	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20			26					GGCTTTACCTGCACAAAAAGT	0.478000																								0							SO:0001583	missense			ENST00000253699.3	1	1	hg19	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733087	0.69189	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000418832	T;T	0.58210	0.35;0.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.36672	1.1	0.80722	D	1	P	0.44044	0.825	P	0.45856	0.495	T	0.48490	-0.9031	10	0.41790	T	0.15	-27.1303	20.2704	0.98474	0.0:0.0:1.0:0.0	.	367	Q9H1K0	RBNS5_HUMAN	K	367;367;69	ENSP00000253699:Q367K;ENSP00000422551:Q367K	ENSP00000253699:Q367K	Q	-	1	0	ZFYVE20	15093575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.617000	0.98361	2.793000	0.96121	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	0	0	1	60	264	0	90	1	9.976898e-01	7	36	0	90	2		0	0	0	0	0	2	1	1	57	261	0	88	2								-20.000000	1	1	121412	1	27	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFYVE20	64145	broad.mit.edu	37	3	15127405	15127405	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15127405A>G	ENST00000253699.3	-	6	966	c.353T>C	c.(352-354)gTt>gCt	p.V118A	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20			26					GACTTCCACAACATAGTGGTC	0.358000																								0							SO:0001583	missense			ENST00000253699.3	1	1	hg19	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.411677	0.62399	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.70516	0.79;0.79;-0.49	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	N	0.17901	0.54	0.80722	D	1	D;P	0.76494	0.999;0.911	D;P	0.76071	0.987;0.532	T	0.70117	-0.4960	10	0.20046	T	0.44	-15.8092	16.2526	0.82494	1.0:0.0:0.0:0.0	.	118;118	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	A	118	ENSP00000253699:V118A;ENSP00000422551:V118A;ENSP00000391039:V118A	ENSP00000253699:V118A	V	-	2	0	ZFYVE20	15102409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.543000	0.90651	2.241000	0.73720	0.482000	0.46254	GTT		TCGA-IB-7651-01A-11D-2154-08	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	1	0	1	179	910	0	232	1	9.845252e-01	10	25	0	232	2		0	0	0	0	0	2	1	1	176	902	0	229	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AADACL2	344752	broad.mit.edu	37	3	151451884	151451884	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151451884A>G	ENST00000356517.3	+	1	170	c.61A>G	c.(61-63)Aca>Gca	p.T21A		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2			24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		TCATTTTTACACACCCATGCC	0.383000																								0							SO:0001583	missense			ENST00000356517.3	1	1	hg19	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057794	0.36277	.	.	ENSG00000197953	ENST00000356517	T	0.04502	3.61	5.17	0.0266	0.14151	.	.	.	.	.	T	0.03651	0.0104	L	0.38175	1.15	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.45116	-0.9283	9	0.25751	T	0.34	-1.3311	3.274	0.06892	0.553:0.0:0.2783:0.1687	.	21	Q6P093	ADCL2_HUMAN	A	21	ENSP00000348911:T21A	ENSP00000348911:T21A	T	+	1	0	AADACL2	152934574	0.033000	0.19621	0.002000	0.10522	0.151000	0.21798	0.389000	0.20751	0.442000	0.26555	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	1	0	1	32	180	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	32	177	0	37	2								-17.018490	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
AADACL2	344752	broad.mit.edu	37	3	151458616	151458616	+	Silent	SNP	G	G	A	rs144315490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151458616G>A	ENST00000356517.3	+	2	430	c.321G>A	c.(319-321)gtG>gtA	p.V107V		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2			24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		GGCGAGCTGTGATATATTTTC	0.353000																								0							SO:0001819	synonymous_variant			ENST00000356517.3	1	1	hg19	CCDS3161.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	1	0	1	77	342	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	74	338	0	79	2								-3.424055	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AADACL2	344752	broad.mit.edu	37	3	151475275	151475275	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151475275G>A	ENST00000356517.3	+	5	1208	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2			24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		TGAACATATTGAGGATGGAAT	0.343000																								0							SO:0001583	missense			ENST00000356517.3	1	1	hg19	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389903	0.61956	.	.	ENSG00000197953	ENST00000356517	T	0.60040	0.22	5.15	5.15	0.70609	Alpha/beta hydrolase fold-3 (1);	0.443069	0.25958	N	0.027210	T	0.75155	0.3811	M	0.77486	2.375	0.28532	N	0.912553	D	0.60575	0.988	P	0.61722	0.893	T	0.71807	-0.4481	10	0.62326	D	0.03	-38.0713	18.4096	0.90546	0.0:0.0:1.0:0.0	.	367	Q6P093	ADCL2_HUMAN	K	367	ENSP00000348911:E367K	ENSP00000348911:E367K	E	+	1	0	AADACL2	152957965	0.938000	0.31826	0.362000	0.25862	0.547000	0.35210	1.698000	0.37794	2.683000	0.91414	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	1	0	1	70	355	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	70	352	0	82	2								-2.857223	1	1	121408	2	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUCNR1	56670	broad.mit.edu	37	3	151598717	151598717	+	Missense_Mutation	SNP	G	G	A	rs148906217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151598717G>A	ENST00000362032.5	+	3	491	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1			14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)	Succinic acid(DB00139)	TATCCTTTCCGAGAACACCTT	0.368000																								0							SO:0001583	missense			ENST00000362032.5	1	1	hg19	CCDS3162.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.1	4.494259	0.85069	0.009532	2.33E-4	ENSG00000198829	ENST00000362032	T	0.40756	1.02	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.077402	0.51477	U	0.000095	T	0.49643	0.1569	L	0.56769	1.78	0.36495	D	0.868676	D	0.69078	0.997	P	0.58577	0.841	T	0.60296	-0.7291	10	0.42905	T	0.14	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	129	Q9BXA5	SUCR1_HUMAN	Q	129	ENSP00000355156:R129Q	ENSP00000355156:R129Q	R	+	2	0	SUCNR1	153081407	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	4.085000	0.57657	2.586000	0.87340	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	1	0	1	111	411	0	86	0	0	0	1	0	86	2		0	0	0	0	0	2	1	1	110	405	0	86	2								-2.822135	1	1	121412	114	53	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBNL1	4154	broad.mit.edu	37	3	152150554	152150554	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152150554G>A	ENST00000463374.1	+	3	905	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Missense_Mutation_p.A132T|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T|MBNL1_ENST00000485910.1_Intron	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1			22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		ATCAGCAGCCGCCTTTAATCC	0.473000																								0							SO:0001583	missense			ENST00000463374.1	1	1	hg19	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963689	0.92791	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.46774	D	0.999191	D;P;P;D;B;D;D	0.76494	0.999;0.472;0.556;0.995;0.41;0.994;0.99	P;B;B;P;B;P;P	0.62740	0.906;0.072;0.203;0.838;0.217;0.701;0.819	T	0.63060	-0.6721	10	0.38643	T	0.18	.	18.3327	0.90276	0.0:0.0:1.0:0.0	.	132;132;132;132;75;132;132	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	T	132;132;40;75;132;40;132;132;132;132;132;132;35	ENSP00000282486:A132T;ENSP00000347637:A132T;ENSP00000417741:A40T;ENSP00000419347:A75T;ENSP00000319429:A132T;ENSP00000420680:A40T;ENSP00000420327:A132T;ENSP00000319374:A132T;ENSP00000350064:A132T;ENSP00000418108:A132T;ENSP00000420103:A132T;ENSP00000418876:A132T;ENSP00000418508:A35T	ENSP00000282486:A132T	A	+	1	0	MBNL1	153633244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.876000	0.75556	2.396000	0.81511	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	1	0	1	258	874	0	198	1	1	21	206	0	198	2		0	0	0	0	0	2	1	1	257	855	0	197	2								-20.000000	1	1	121412	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY1	5028	broad.mit.edu	37	3	152554367	152554367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554367C>A	ENST00000305097.3	+	1	1632	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1			23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		AATCATTGTACTGACTGTTTT	0.423000																								0							SO:0001583	missense			ENST00000305097.3	1	1	hg19	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967582	0.34754	.	.	ENSG00000169860	ENST00000305097	T	0.37915	1.17	5.58	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.48295	0.1492	L	0.49778	1.585	0.50039	D	0.999849	D	0.76494	0.999	D	0.91635	0.999	T	0.35525	-0.9785	10	0.37606	T	0.19	.	7.3074	0.26455	0.0:0.6641:0.0:0.3359	.	266	P47900	P2RY1_HUMAN	M	266	ENSP00000304767:L266M	ENSP00000304767:L266M	L	+	1	2	P2RY1	154037057	1.000000	0.71417	0.378000	0.26068	0.476000	0.33039	3.828000	0.55753	0.725000	0.32318	-0.253000	0.11424	CTG		TCGA-IB-7651-01A-11D-2154-08	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	1	0	1	77	345	0	85	1	9.146604e-01	6	15	0	85	2		0	0	0	0	0	2	1	1	77	341	0	85	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY1	5028	broad.mit.edu	37	3	152554451	152554451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554451G>T	ENST00000305097.3	+	1	1716	c.880G>T	c.(880-882)Gca>Tca	p.A294S	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1			23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		TCAGACCCCAGCAATGTGTGC	0.458000																								0							SO:0001583	missense			ENST00000305097.3	1	1	hg19	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912569	0.17907	.	.	ENSG00000169860	ENST00000305097	T	0.66995	-0.24	5.58	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.318404	0.32204	N	0.006426	T	0.40094	0.1103	N	0.04043	-0.29	0.22142	N	0.999337	B	0.12013	0.005	B	0.19391	0.025	T	0.19679	-1.0298	10	0.08381	T	0.77	.	10.687	0.45850	0.0729:0.1321:0.795:0.0	.	294	P47900	P2RY1_HUMAN	S	294	ENSP00000304767:A294S	ENSP00000304767:A294S	A	+	1	0	P2RY1	154037141	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.233000	0.65337	1.360000	0.45960	-0.251000	0.11542	GCA		TCGA-IB-7651-01A-11D-2154-08	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	1	0	1	81	392	0	83	1	9.961799e-01	19	24	0	83	2		0	0	0	0	0	2	1	1	80	382	0	82	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAP2B	5912	broad.mit.edu	37	3	152880895	152880895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152880895G>T	ENST00000323534.2	+	1	867	c.413G>T	c.(412-414)tGg>tTg	p.W138L	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family			7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		GCTGAGGAGTGGAGCTGCCCC	0.632000																								0							SO:0001583	missense			ENST00000323534.2	1	1	hg19	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359132	0.82353	.	.	ENSG00000181467	ENST00000323534	T	0.76839	-1.05	4.43	4.43	0.53597	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.80215	0.4582	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77338	-0.2625	10	0.24483	T	0.36	.	15.7938	0.78394	0.0:0.0:1.0:0.0	.	138	P61225	RAP2B_HUMAN	L	138	ENSP00000319096:W138L	ENSP00000319096:W138L	W	+	2	0	RAP2B	154363585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.294000	0.77228	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	1	0	1	34	157	0	33	1	1	27	152	0	33	2		0	0	0	0	0	2	1	1	34	156	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
C3orf79	152118	broad.mit.edu	37	3	153220229	153220229	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153220229C>A	ENST00000446603.2	+	3	323	c.261C>A	c.(259-261)ggC>ggA	p.G87G	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79			4					TACAGAGAGGCTCCTTTGCAA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000446603.2	1	1	hg19	CCDS46937.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	1	0	1	64	318	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	63	310	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX36	170506	broad.mit.edu	37	3	153995419	153995419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153995419G>A	ENST00000496811.1	-	23	2736	c.2656C>T	c.(2656-2658)Ctt>Ttt	p.L886F	DHX36_ENST00000308361.6_Missense_Mutation_p.L857F|DHX36_ENST00000329463.5_Missense_Mutation_p.L872F|DHX36_ENST00000544526.1_Missense_Mutation_p.L872F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36			35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		TGATAGATAAGCCAGTTGTAG	0.333000																								0							SO:0001583	missense			ENST00000496811.1	1	1	hg19	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830917	0.91036	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.05199	3.67;3.6;3.49;3.48	5.91	5.03	0.67393	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.72624	2.21	0.58432	D	0.999997	D;D;D	0.56746	0.972;0.972;0.977	P;P;P	0.61722	0.785;0.828;0.893	T	0.00036	-1.2257	10	0.48119	T	0.1	.	15.4806	0.75524	0.0674:0.0:0.9326:0.0	.	872;857;886	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	886;857;872;872	ENSP00000417078:L886F;ENSP00000309296:L857F;ENSP00000444247:L872F;ENSP00000330113:L872F	ENSP00000309296:L857F	L	-	1	0	DHX36	155478113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.271000	0.95698	2.794000	0.96219	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	1	0	1	24	130	0	43	1	9.999997e-01	21	127	0	43	2		0	0	0	0	0	2	1	9.999998e-01	23	129	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999848	0.990000	1	9.900000e-01	1
DHX36	170506	broad.mit.edu	37	3	154002724	154002724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154002724C>T	ENST00000496811.1	-	18	2164	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36			35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		AACGGGTAATCGTGCCAAGTG	0.403000																								0							SO:0001583	missense			ENST00000496811.1	1	1	hg19	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715414|4.715414	0.89112|0.89112	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000469977|ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.|T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Helicase-associated domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43662	.|0.608;0.608;0.814	.|B;B;B	.|0.41691	.|0.249;0.358;0.364	T|T	0.01648|0.01648	-1.1304|-1.1304	5|10	.|0.33141	.|T	.|0.24	.|.	19.5978|19.5978	0.95548|0.95548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|681;695;695	.|Q9H2U1-2;Q9H2U1-3;Q9H2U1	.|.;.;DHX36_HUMAN	N|Q	142|695;695;681;681;609	.|ENSP00000417078:R695Q;ENSP00000309296:R695Q;ENSP00000444247:R681Q;ENSP00000330113:R681Q;ENSP00000419862:R609Q	.|ENSP00000309296:R695Q	D|R	-|-	1|2	0|0	DHX36|DHX36	155485418|155485418	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.990000|0.990000	0.78478|0.78478	7.662000|7.662000	0.83803|0.83803	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GAT|CGA		TCGA-IB-7651-01A-11D-2154-08	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	1	0	1	79	369	0	63	1	1	39	100	0	63	2		0	0	0	0	0	2	1	1	77	357	0	63	2								-3.126835	1	1	121412	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR149	344758	broad.mit.edu	37	3	154055600	154055600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154055600G>A	ENST00000389740.2	-	4	2183	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149			47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		CTGCCTGTGTGCTTCTACTGT	0.438000																								0							SO:0001583	missense			ENST00000389740.2	1	1	hg19	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387473	0.82902	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70550	-0.4841	9	0.87932	D	0	-17.2027	20.063	0.97692	0.0:0.0:1.0:0.0	.	695	Q86SP6	GP149_HUMAN	V	695	.	ENSP00000374390:A695V	A	-	2	0	GPR149	155538294	1.000000	0.71417	0.952000	0.39060	0.444000	0.32077	9.455000	0.97625	2.741000	0.93983	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	1	0	1	208	981	0	200		0	0	0	0	200	2		0	0	0	0	0	2	1	1	205	964	0	199	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR149	344758	broad.mit.edu	37	3	154146651	154146651	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154146651A>G	ENST00000389740.2	-	1	853	c.754T>C	c.(754-756)Tcc>Ccc	p.S252P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149			47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		TCCTCTGGGGACAGGGAAACC	0.662000																								0							SO:0001583	missense			ENST00000389740.2	1	1	hg19	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543435	0.27563	.	.	ENSG00000174948	ENST00000389740	T	0.38560	1.13	4.57	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.423870	0.28442	N	0.015327	T	0.25827	0.0629	L	0.31065	0.9	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.14200	-1.0481	10	0.22706	T	0.39	-0.0054	7.4261	0.27100	0.782:0.0:0.0811:0.1369	.	252	Q86SP6	GP149_HUMAN	P	252	ENSP00000374390:S252P	ENSP00000374390:S252P	S	-	1	0	GPR149	155629345	0.000000	0.05858	0.053000	0.19242	0.025000	0.11179	0.099000	0.15210	0.736000	0.32559	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	1	0	1	70	305	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	69	303	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
METTL6	131965	broad.mit.edu	37	3	15466479	15466479	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15466479C>A	ENST00000443029.1	-	3	583	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	METTL6_ENST00000383790.3_Missense_Mutation_p.A115S|EAF1_ENST00000396842.2_5'Flank|EAF1_ENST00000432764.2_5'Flank|METTL6_ENST00000383789.5_Missense_Mutation_p.A115S|METTL6_ENST00000450816.2_Intron			Q8TCB7	METL6_HUMAN	methyltransferase like 6			15					TATTCAATGGCTCTTGGAGAA	0.398000																								0							SO:0001583	missense			ENST00000443029.1	1	1	hg19	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004692	0.74932	.	.	ENSG00000206562	ENST00000383790;ENST00000453819;ENST00000383789	T;T;T	0.04758	3.56;3.56;3.56	5.74	5.74	0.90152	Methyltransferase type 12 (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05241	-1.0897	10	0.87932	D	0	-14.8173	19.5124	0.95148	0.0:1.0:0.0:0.0	.	115;115	Q8TCB7-2;Q8TCB7	.;METL6_HUMAN	S	115;22;115	ENSP00000373300:A115S;ENSP00000412006:A22S;ENSP00000373299:A115S	ENSP00000373299:A115S	A	-	1	0	METTL6	15441483	1.000000	0.71417	0.999000	0.59377	0.260000	0.26232	7.723000	0.84788	2.707000	0.92482	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	1	0	1	95	391	0	80	1	9.920895e-01	5	28	0	80	2		0	0	0	0	0	2	1	1	94	385	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MME	4311	broad.mit.edu	37	3	154832830	154832830	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154832830G>T	ENST00000460393.1	+	4	364	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Missense_Mutation_p.D82Y|MME_ENST00000492661.1_Missense_Mutation_p.D82Y|MME_ENST00000462745.1_Missense_Mutation_p.D82Y|MME_ENST00000493237.1_Missense_Mutation_p.D82Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase			64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)	Candoxatril(DB00616)|Liraglutide(DB06655)	GCCTTGTACAGACTTTTTCAA	0.433000																								0							SO:0001583	missense			ENST00000460393.1	1	1	hg19	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735744	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	D;D;D;D;D;D;D;D;D	0.90676	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.71;-2.11	5.46	4.59	0.56863	Peptidase M13 (1);	0.096412	0.64402	D	0.000001	D	0.95072	0.8404	M	0.86178	2.8	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	D	0.95214	0.8328	10	0.87932	D	0	-26.8909	11.3533	0.49600	0.1454:0.0:0.8546:0.0	.	82	P08473	NEP_HUMAN	Y	82	ENSP00000420389:D82Y;ENSP00000418525:D82Y;ENSP00000420101:D82Y;ENSP00000419653:D82Y;ENSP00000417079:D82Y;ENSP00000353679:D82Y;ENSP00000418791:D82Y;ENSP00000420542:D82Y;ENSP00000417595:D82Y	ENSP00000353679:D82Y	D	+	1	0	MME	156315524	1.000000	0.71417	0.914000	0.36105	0.986000	0.74619	4.263000	0.58853	1.328000	0.45358	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	0	0	0	42	559	1	103	0	1.078532e-01	0	8	1	103	2		0	0	0	0	0	2	1	9.991496e-01	42	552	1	102	19								-9.398417	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.830000	0.600000	1.000000	1.000000	0.840236	0.830000	0	7.100000e-01	9.900000e-01
MME	4311	broad.mit.edu	37	3	154834705	154834705	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154834705A>G	ENST00000460393.1	+	7	704	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	MME_ENST00000360490.2_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_Missense_Mutation_p.Y195C|MME_ENST00000462745.1_Missense_Mutation_p.Y195C|MME_ENST00000493237.1_Missense_Mutation_p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase			64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)	Candoxatril(DB00616)|Liraglutide(DB06655)	AATTCTAAATATGGGAAAAAA	0.294000																								0							SO:0001583	missense			ENST00000460393.1	1	1	hg19	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.734859	0.69189	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	6.17	3.52	0.40303	Peptidase M13 (1);	0.115285	0.64402	D	0.000010	D	0.86142	0.5862	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88017	0.2766	10	0.87932	D	0	-15.7668	12.7345	0.57216	0.7695:0.0:0.0:0.2305	.	195	P08473	NEP_HUMAN	C	195	ENSP00000420389:Y195C;ENSP00000418525:Y195C;ENSP00000420101:Y195C;ENSP00000419653:Y195C;ENSP00000417079:Y195C;ENSP00000353679:Y195C	ENSP00000353679:Y195C	Y	+	2	0	MME	156317399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.540000	0.60664	1.130000	0.42092	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	1	0	1	41	228	0	56	0	1.753248e-01	0	5	0	56	2		0	0	0	0	0	2	1	1	42	219	0	54	2								-20.000000	1	1	121390	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
PLCH1	23007	broad.mit.edu	37	3	155198762	155198762	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155198762G>A	ENST00000340059.7	-	23	5076	c.5077C>T	c.(5077-5079)Ctg>Ttg	p.L1693L	PLCH1_ENST00000460012.1_Silent_p.L1655L|PLCH1_ENST00000414191.1_Silent_p.L1655L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1			107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		ATAATTCACAGTCTCAAAAGA	0.338000																								0							SO:0001819	synonymous_variant			ENST00000340059.7	1	1	hg19	CCDS46939.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	1	0	1	38	236	0	60	1	9.971391e-02	3	1	0	60	2		0	0	0	0	0	2	1	1	37	235	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999932	0.990000	1	9.900000e-01	1
PLCH1	23007	broad.mit.edu	37	3	155199440	155199440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155199440C>A	ENST00000340059.7	-	23	4398	c.4399G>T	c.(4399-4401)Gat>Tat	p.D1467Y	PLCH1_ENST00000460012.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1429Y|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1			107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		ACATGCATATCTTGAGCACTA	0.463000																								0							SO:0001583	missense			ENST00000340059.7	0	1	hg19	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443117	0.12164	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.93	4.05	0.47172	.	1.702460	0.02980	N	0.145486	T	0.35451	0.0932	L	0.47716	1.5	0.09310	N	1	P;P	0.52692	0.955;0.845	P;B	0.47251	0.542;0.254	T	0.32348	-0.9910	10	0.62326	D	0.03	.	11.2881	0.49234	0.3315:0.6685:0.0:0.0	.	1429;1467	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Y	1429;1467;1429;1429	ENSP00000417502:D1429Y;ENSP00000345988:D1467Y;ENSP00000335469:D1429Y;ENSP00000412977:D1429Y	ENSP00000335469:D1429Y	D	-	1	0	PLCH1	156682134	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.315000	0.33608	1.038000	0.40049	-0.302000	0.09304	GAT		TCGA-IB-7651-01A-11D-2154-08	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	0	0	0	10	418	0	88	0	2.229021e-02	0	9	0	88	2		0	0	0	0	0	2	1	9.964853e-01	10	406	0	87	2								-3.352149	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.290000	0.140000	1.000000	0.270000	0.338478	0.290000	0	2.000000e-01	4.100000e-01
PLCH1	23007	broad.mit.edu	37	3	155222376	155222376	+	Nonsense_Mutation	SNP	G	G	A	rs142222970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155222376G>A	ENST00000340059.7	-	12	1635	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1			107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		ATGAGGGATCGTCCATGTGAT	0.313000																								0							SO:0001587	stop_gained			ENST00000340059.7	0	1	hg19	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	40	8.501984	0.98838	2.27E-4	0.0	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.19	5.19	0.71726	.	1.248860	0.05659	N	0.586524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8058	0.57612	0.0:0.0:0.8367:0.1633	.	.	.	.	X	546;528;546;546;528;528	.	ENSP00000335469:R528X	R	-	1	2	PLCH1	156705070	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.425000	0.52771	2.571000	0.86741	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	1	0	1	27	144	0	62	0	2.666667e-02	0	2	0	62	2		0	0	0	0	0	2	1	1	26	143	0	60	2								-15.214440	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
PLCH1	23007	broad.mit.edu	37	3	155286106	155286106	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155286106T>C	ENST00000340059.7	-	6	742	c.743A>G	c.(742-744)aAt>aGt	p.N248S	PLCH1_ENST00000460012.1_Missense_Mutation_p.N230S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N248S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N230S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1			107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		CGTTGTCACATTATTCATCTA	0.318000																								0							SO:0001583	missense			ENST00000340059.7	0	1	hg19	CCDS46939.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.91	2.676056	0.47886	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	5.54	5.54	0.83059	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.207947	0.47455	D	0.000227	T	0.21841	0.0526	L	0.50919	1.6	0.47276	D	0.999376	P;P;B	0.37370	0.537;0.592;0.013	B;B;B	0.41135	0.236;0.348;0.02	T	0.01684	-1.1296	10	0.30854	T	0.27	.	15.6779	0.77341	0.0:0.0:0.0:1.0	.	230;248;248	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	248;230;248;248;230;230	ENSP00000419100:N248S;ENSP00000417502:N230S;ENSP00000402759:N248S;ENSP00000345988:N248S;ENSP00000335469:N230S;ENSP00000412977:N230S	ENSP00000335469:N230S	N	-	2	0	PLCH1	156768800	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.489000	0.60309	2.099000	0.63709	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	0	0	0	5	89	0	33	0	5.435482e-02	0	6	0	33	2		0	0	0	0	0	2	1	9.375384e-01	5	88	0	31	2								-4.398495	1	1	121334	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.680000	0.260000	1.000000	1.000000	0.694643	0.680000	0	4.300000e-01	1
C3orf33	285315	broad.mit.edu	37	3	155481469	155481469	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155481469C>A	ENST00000340171.2	-	5	820	c.722G>T	c.(721-723)aGt>aTt	p.S241I	C3orf33_ENST00000534941.1_Missense_Mutation_p.S198I			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33			8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		TTTTAAAAAACTGTCCTTTTT	0.299000																								0							SO:0001583	missense			ENST00000340171.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.96	1.795647	0.31777	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46063	0.88;0.88	5.13	0.327	0.15913	.	0.942736	0.08977	N	0.866334	T	0.50446	0.1616	L	0.57536	1.79	0.09310	N	0.999999	D	0.53151	0.958	P	0.54312	0.748	T	0.43861	-0.9365	10	0.72032	D	0.01	-5.5109	8.8689	0.35303	0.0:0.5147:0.0:0.4853	.	241	Q6P1S2	CC033_HUMAN	I	198;241;241	ENSP00000445446:S198I;ENSP00000342512:S241I	ENSP00000342512:S241I	S	-	2	0	C3orf33	156964163	0.000000	0.05858	0.308000	0.25141	0.521000	0.34408	-1.494000	0.02296	-0.005000	0.14395	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	1	0	1	22	153	0	33	1	8.643416e-01	8	19	0	33	2		0	0	0	0	0	2	1	9.999989e-01	22	148	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.997436	0.990000	1	9.900000e-01	1
TIPARP	25976	broad.mit.edu	37	3	156413716	156413716	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156413716G>A	ENST00000461166.1	+	4	1737	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I|TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase			23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		GATTTATGATGTGGAATAACC	0.383000													Ovarian(171;276 1987 3319 6837 11197)											0							SO:0001583	missense			ENST00000461166.1	1	1	hg19	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.581|9.581	1.123516|1.123516	0.20959|0.20959	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86;1.86|.	5.47|5.47	5.47|5.47	0.80525|0.80525	WWE domain (1);|.	0.043555|.	0.85682|.	D|.	0.000000|.	T|T	0.30448|0.30448	0.0765|0.0765	N|N	0.22421|0.22421	0.69|0.69	0.31574|0.31574	N|N	0.655986|0.655986	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.49607|.	T|.	0.09|.	.|.	6.1501|6.1501	0.20306|0.20306	0.1552:0.1617:0.6831:0.0|0.1552:0.1617:0.6831:0.0	.|.	383|.	Q7Z3E1|.	PARPT_HUMAN|.	I|M	383|86	ENSP00000418757:M383I;ENSP00000295924:M383I;ENSP00000420612:M383I;ENSP00000419982:M383I;ENSP00000418829:M383I;ENSP00000438345:M383I|.	ENSP00000295924:M383I|.	M|V	+|+	3|1	0|0	TIPARP|TIPARP	157896410|157896410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.996000|0.996000	0.29719|0.29719	2.579000|2.579000	0.87056|0.87056	0.460000|0.460000	0.39030|0.39030	ATG|GTG		TCGA-IB-7651-01A-11D-2154-08	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	1	0	1	101	393	0	84	1	1	16	89	0	84	2		0	0	0	0	0	2	1	1	97	379	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIPARP	25976	broad.mit.edu	37	3	156421357	156421357	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156421357A>G	ENST00000461166.1	+	5	1980	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	TIPARP_ENST00000542783.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q|TIPARP_ENST00000486483.1_Silent_p.Q464Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase			23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		ACTTCATCCAAGTCCCTGTTT	0.383000													Ovarian(171;276 1987 3319 6837 11197)											0							SO:0001819	synonymous_variant			ENST00000461166.1	1	1	hg19	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	A	8.957	0.969552	0.18659	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70601	-0.4827	4	.	.	.	.	14.9953	0.71428	1.0:0.0:0.0:0.0	.	.	.	.	G	167	.	.	S	+	1	0	TIPARP	157904051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.018000	0.59344	0.528000	0.53228	AGT		TCGA-IB-7651-01A-11D-2154-08	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	1	0	1	39	398	0	85	1	9.950908e-01	7	78	0	85	2		0	0	0	0	0	2	1	1	37	385	0	85	2								-20.000000	1	1	121412	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.770000	1.000000	1.000000	0.967023	0.990000	1	9.000000e-01	1
TIPARP	25976	broad.mit.edu	37	3	156422599	156422599	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156422599C>A	ENST00000461166.1	+	6	2241	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	TIPARP_ENST00000542783.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V|TIPARP_ENST00000486483.1_Silent_p.V551V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase			23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		ACCCTCGAGTCTGTGGAAAGC	0.418000													Ovarian(171;276 1987 3319 6837 11197)											0							SO:0001819	synonymous_variant			ENST00000461166.1	1	1	hg19	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376662	0.11466	.	.	ENSG00000163659	ENST00000495891	.	.	.	5.77	4.85	0.62838	.	.	.	.	.	T	0.72252	0.3437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70615	-0.4823	4	.	.	.	.	16.9661	0.86286	0.0:0.7817:0.2183:0.0	.	.	.	.	M	254	.	.	L	+	1	2	TIPARP	157905293	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.415000	0.21181	2.726000	0.93360	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	1	0	1	167	872	0	194	1	9.999948e-01	10	79	0	194	2		0	0	0	0	0	2	1	1	165	855	0	194	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTD	686	broad.mit.edu	37	3	15677047	15677047	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15677047A>G	ENST00000303498.5	+	2	270	c.161A>G	c.(160-162)gAg>gGg	p.E54G	BTD_ENST00000383778.4_Missense_Mutation_p.E34G|BTD_ENST00000437172.1_Missense_Mutation_p.E56G|BTD_ENST00000449107.1_Missense_Mutation_p.E56G|BTD_ENST00000482824.1_3'UTR	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase			18					GACCATCACGAGGCTGAATAT	0.567000																								0							SO:0001583	missense			ENST00000303498.5	1	1	hg19	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	A	4.238	0.043137	0.08196	.	.	ENSG00000169814	ENST00000427382;ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D;D	0.95980	-3.87;-2.55;-2.55;-2.56;-2.29;-2.53	3.24	-2.28	0.06826	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.973243	0.08477	N	0.940113	D	0.85221	0.5647	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.73272	-0.4035	10	0.49607	T	0.09	-6.354	0.1601	0.00102	0.3777:0.1765:0.2144:0.2313	.	56;56;54	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	G	34;56;54;56;34;34	ENSP00000397113:E34G;ENSP00000388212:E56G;ENSP00000306477:E54G;ENSP00000400995:E56G;ENSP00000394277:E34G;ENSP00000373288:E34G	ENSP00000306477:E54G	E	+	2	0	BTD	15652051	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.261000	0.18442	-0.453000	0.07076	0.454000	0.30748	GAG		TCGA-IB-7651-01A-11D-2154-08	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	1	0	1	128	543	0	131	1	9.999999e-01	24	71	0	131	2		0	0	0	0	0	2	1	1	126	530	0	131	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNL1	57018	broad.mit.edu	37	3	156866190	156866190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156866190G>A	ENST00000295926.3	-	11	1539	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1			18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		CTTGCTCTGAGATCGAGAACG	0.453000																								0							SO:0001583	missense			ENST00000295926.3	1	1	hg19	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272501	0.59649	.	.	ENSG00000163660	ENST00000295926	T	0.24350	1.86	4.99	4.99	0.66335	.	0.226724	0.46442	D	0.000294	T	0.34164	0.0888	L	0.55213	1.73	0.80722	D	1	P	0.48911	0.917	P	0.46049	0.502	T	0.15665	-1.0429	10	0.59425	D	0.04	-9.688	18.6886	0.91574	0.0:0.0:1.0:0.0	.	474	Q9UK58	CCNL1_HUMAN	F	474	ENSP00000295926:S474F	ENSP00000295926:S474F	S	-	2	0	CCNL1	158348884	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.015000	0.88690	2.458000	0.83093	0.551000	0.68910	TCT		TCGA-IB-7651-01A-11D-2154-08	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	1	0	1	156	777	0	185	1	1	56	124	0	185	2		0	0	0	0	0	2	1	1	151	755	0	182	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTD	686	broad.mit.edu	37	3	15686733	15686733	+	Missense_Mutation	SNP	T	T	C	rs149690919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15686733T>C	ENST00000303498.5	+	4	1479	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	BTD_ENST00000383778.4_Missense_Mutation_p.V437A|BTD_ENST00000437172.1_Missense_Mutation_p.V459A|BTD_ENST00000449107.1_Missense_Mutation_p.V459A	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase			18					TACATCCAAGTGTGTGCCCTG	0.517000																								0							SO:0001583	missense			ENST00000303498.5	1	1	hg19	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	T	7.844	0.722630	0.15439	2.27E-4	0.0	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.58	1.98	0.26296	.	0.379003	0.29417	N	0.012208	T	0.75236	0.3822	N	0.12471	0.22	0.31840	N	0.623582	B;B;B	0.15719	0.014;0.014;0.008	B;B;B	0.16289	0.015;0.015;0.015	T	0.66921	-0.5801	10	0.26408	T	0.33	-13.3839	7.5132	0.27585	0.0:0.3816:0.0:0.6184	.	459;459;457	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	A	459;457;459;437	ENSP00000388212:V459A;ENSP00000306477:V457A;ENSP00000400995:V459A;ENSP00000373288:V437A	ENSP00000306477:V457A	V	+	2	0	BTD	15661737	0.856000	0.29760	0.015000	0.15790	0.532000	0.34746	1.300000	0.33436	0.420000	0.25954	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	1	0	1	105	425	0	112	1	9.999968e-01	19	56	0	112	2		0	0	0	0	0	2	1	1	105	417	0	111	2								-20.000000	1	1	121412	7	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VEPH1	79674	broad.mit.edu	37	3	157034982	157034982	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157034982T>C	ENST00000362010.2	-	10	2051	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1			48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		ACACAACTTCTCACAGTGTCT	0.378000																								0							SO:0001583	missense			ENST00000362010.2	1	1	hg19	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	7.140	0.581722	0.13749	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08282	3.11;3.13;3.11;3.13	5.46	3.06	0.35304	.	0.222976	0.46758	D	0.000273	T	0.07908	0.0198	L	0.44542	1.39	0.36912	D	0.890968	B;B	0.16396	0.002;0.017	B;B	0.15870	0.004;0.014	T	0.14035	-1.0487	10	0.42905	T	0.14	-7.5471	9.0914	0.36612	0.0:0.1564:0.0:0.8436	.	582;582	Q14D04-2;Q14D04	.;MELT_HUMAN	G	582	ENSP00000376578:R582G;ENSP00000354919:R582G;ENSP00000446258:R582G;ENSP00000376577:R582G	ENSP00000354919:R582G	R	-	1	2	VEPH1	158517676	0.325000	0.24660	0.534000	0.28014	0.603000	0.37013	1.031000	0.30165	0.929000	0.37192	0.533000	0.62120	AGA		TCGA-IB-7651-01A-11D-2154-08	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	0	22	363	0	81	0	7.954663e-02	0	8	0	81	2		0	0	0	0	0	2	1	9.999988e-01	21	360	0	80	2								-5.795237	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.690000	0.440000	1.000000	0.660000	0.710316	0.690000	0	5.500000e-01	8.700000e-01
VEPH1	79674	broad.mit.edu	37	3	157081170	157081170	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157081170T>C	ENST00000362010.2	-	9	2025	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1			48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		GGTACACTGATCAGGGACTGG	0.378000																								0							SO:0001583	missense			ENST00000362010.2	1	1	hg19	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631716	0.46944	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.09163	3.01;3.04;3.01;3.04	5.5	5.5	0.81552	.	0.098590	0.64402	D	0.000002	T	0.14098	0.0341	L	0.34521	1.04	0.80722	D	1	P;P	0.52170	0.951;0.521	P;B	0.47645	0.553;0.142	T	0.01027	-1.1476	10	0.59425	D	0.04	-14.4798	15.6131	0.76744	0.0:0.0:0.0:1.0	.	573;573	Q14D04-2;Q14D04	.;MELT_HUMAN	G	573	ENSP00000376578:D573G;ENSP00000354919:D573G;ENSP00000446258:D573G;ENSP00000376577:D573G	ENSP00000354919:D573G	D	-	2	0	VEPH1	158563864	1.000000	0.71417	0.914000	0.36105	0.999000	0.98932	5.721000	0.68477	2.084000	0.62774	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1	175	704	0	147	0	4.223486e-01	0	7	0	147	2		0	0	0	0	0	2	1	1	174	692	0	146	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VEPH1	79674	broad.mit.edu	37	3	157099043	157099043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157099043G>A	ENST00000362010.2	-	7	1336	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.G343G|VEPH1_ENST00000392833.2_Silent_p.G343G|VEPH1_ENST00000392832.2_Silent_p.G343G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1			48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		TGCTCTGAGGGCCCAAGATTG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000362010.2	1	1	hg19	CCDS3179.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1	121	506	0	104	0	6.574335e-01	0	11	0	104	2		0	0	0	0	0	2	1	1	118	491	0	104	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VEPH1	79674	broad.mit.edu	37	3	157131821	157131821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157131821T>C	ENST00000362010.2	-	6	1062	c.755A>G	c.(754-756)gAc>gGc	p.D252G	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G|VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1			48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		TAGGATGATGTCATTATGGGT	0.418000																								0							SO:0001583	missense			ENST00000362010.2	1	1	hg19	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.421162	0.42918	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.9	5.9	0.94986	.	0.045054	0.85682	D	0.000000	T	0.47284	0.1437	L	0.41236	1.265	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.62089	0.898;0.793	T	0.26395	-1.0104	10	0.25751	T	0.34	-2.4488	14.9032	0.70696	0.0:0.0:0.0:1.0	.	252;252	Q14D04-2;Q14D04	.;MELT_HUMAN	G	252	ENSP00000376578:D252G;ENSP00000354919:D252G;ENSP00000446258:D252G;ENSP00000376577:D252G	ENSP00000354919:D252G	D	-	2	0	VEPH1	158614515	0.994000	0.37717	0.115000	0.21578	0.967000	0.64934	3.823000	0.55715	2.251000	0.74343	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1	47	207	0	66	0	1.631620e-01	0	4	0	66	2		0	0	0	0	0	2	1	1	46	204	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VEPH1	79674	broad.mit.edu	37	3	157188105	157188105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157188105G>A	ENST00000362010.2	-	3	659	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1			48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		TGACATACCTGTAAAATGCAA	0.458000																								0							SO:0001587	stop_gained			ENST00000362010.2	0	1	hg19	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267774	0.97426	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.1046	19.1841	0.93635	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;6;118;118;118;118	.	ENSP00000354919:Q118X	Q	-	1	0	VEPH1	158670799	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.338000	0.96553	2.537000	0.85549	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	0	29	187	0	34	0	4.560179e-01	1	10	0	34	2		0	0	0	0	0	2	1	1	29	185	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999559	0.990000	1	9.900000e-01	1
ANKRD28	23243	broad.mit.edu	37	3	15756164	15756164	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15756164C>T	ENST00000399451.2	-	9	1274		c.e9-1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28			6					CATCTTTACTCTGGGGGGGGA	0.363000																								0							SO:0001630	splice_region_variant			ENST00000399451.2	1	1	hg19	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629505	0.67015	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7519	0.85488	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15731168	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.968000	0.70413	2.446000	0.82766	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	1	0	1	19	94	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999940e-01	19	92	0	25	2								-3.428211	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999766	0.990000	1	9.900000e-01	1
SHOX2	6474	broad.mit.edu	37	3	157816011	157816011	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157816011G>A	ENST00000425436.3	-	5	826	c.801C>T	c.(799-801)caC>caT	p.H267H	SHOX2_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000490689.2_Silent_p.H126H	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2			20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		GCGCGGCCAGGTGCGGATGCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000425436.3	1	1	hg19	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459875	0.63401	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.73705	0.3621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72693	-0.4216	4	.	.	.	.	17.6754	0.88229	0.0:0.0:1.0:0.0	.	.	.	.	I	158	.	.	T	-	2	0	SHOX2	159298705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.527000	0.85204	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2	1	0	0	129	611	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	1	128	604	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RSRC1	51319	broad.mit.edu	37	3	157823784	157823784	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157823784C>A	ENST00000480820.1	+	0	141				SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000490689.2_5'Flank			Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1			18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		GGTCAAAAGACTTGGAGACGA	0.607000																								0											ENST00000480820.1	0	1	hg19	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198165	0.79015	.	.	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	D;D;D	0.97976	-4.64;-4.64;-4.64	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000004	D	0.97757	0.9264	L	0.39245	1.2	0.80722	D	1	B;D;D	0.89917	0.447;1.0;1.0	B;D;D	0.83275	0.075;0.996;0.987	D	0.98883	1.0770	10	0.66056	D	0.02	.	16.0873	0.81065	0.0:1.0:0.0:0.0	.	10;10;10	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	N	10	ENSP00000398704:K10N;ENSP00000374240:K10N;ENSP00000419362:K10N	ENSP00000374240:K10N	K	-	3	2	SHOX2;AC112502.1	159306478	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.458000	0.21892	1.938000	0.56188	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	RSRC1-007	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352156.1	0	0	0	72	292	0	55	0	1.042577e-01	0	3	0	55	2		0	0	0	0	0	2	1	1	72	287	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLF1	4291	broad.mit.edu	37	3	158315917	158315917	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158315917G>T	ENST00000355893.5	+	4	466	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	MLF1_ENST00000469452.1_Intron|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F|MLF1_ENST00000359117.5_Missense_Mutation_p.V85F|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Missense_Mutation_p.V85F|MLF1_ENST00000482628.1_Missense_Mutation_p.V85F|MLF1_ENST00000471745.1_Missense_Mutation_p.V100F	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1			3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		TTCTTCCTCAGTTATGACTTA	0.368000			T	NPM1	AML										Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	0							SO:0001583	missense			ENST00000355893.5	0	1	hg19	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340854	0.60963	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T	0.58797	0.5;0.37;0.45;0.45;0.44;0.31;0.45;0.31;0.4	5.44	2.28	0.28536	.	0.259886	0.33515	N	0.004840	T	0.65719	0.2718	L	0.50333	1.59	0.26948	N	0.966105	D;D	0.71674	0.998;0.995	D;D	0.71414	0.973;0.959	T	0.57100	-0.7869	10	0.37606	T	0.19	-16.2454	10.8672	0.46862	0.3256:0.0:0.6744:0.0	.	141;110	Q8N8F8;P58340	.;MLF1_HUMAN	F	36;110;85;85;65;100;100;85;100;141;125	ENSP00000420410:V36F;ENSP00000348157:V110F;ENSP00000417835:V85F;ENSP00000352025:V85F;ENSP00000419636:V65F;ENSP00000420134:V100F;ENSP00000417141:V85F;ENSP00000417777:V100F;ENSP00000376568:V141F	ENSP00000348157:V110F	V	+	1	0	MLF1	159798611	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	3.451000	0.52964	0.683000	0.31428	0.563000	0.77884	GTT		TCGA-IB-7651-01A-11D-2154-08	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	0	0	0	9	371	0	71	0	4.692394e-01	0	62	0	71	2		0	0	0	0	0	2	1	9.939241e-01	9	365	0	71	2								-8.927488	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.290000	0.140000	1.000000	0.280000	0.344667	0.290000	0	2.100000e-01	4.300000e-01
GFM1	85476	broad.mit.edu	37	3	158364658	158364658	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158364658A>G	ENST00000486715.1	+	4	851	c.494A>G	c.(493-495)tAc>tGc	p.Y165C	GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C|GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1			22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		ATGAAGCGCTACAACGTTCCG	0.493000																								0							SO:0001583	missense			ENST00000486715.1	1	1	hg19	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244912	0.79912	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.74947	-0.89;-0.89;-0.89	5.86	5.86	0.93980	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	H	0.99890	4.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96582	0.9431	10	0.87932	D	0	-16.7381	16.316	0.82928	1.0:0.0:0.0:0.0	.	165;165;165	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	165	ENSP00000419038:Y165C;ENSP00000418755:Y165C;ENSP00000264263:Y165C	ENSP00000264263:Y165C	Y	+	2	0	GFM1	159847352	1.000000	0.71417	0.989000	0.46669	0.641000	0.38312	8.884000	0.92432	2.248000	0.74166	0.524000	0.50904	TAC		TCGA-IB-7651-01A-11D-2154-08	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	0	0	0	7	248	0	48	1	7.411100e-01	3	90	0	48	2		0	0	0	0	0	2	1	9.807491e-01	7	247	0	47	2								-8.455055	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.350000	0.150000	1.000000	0.320000	0.397192	0.350000	0	2.300000e-01	5.200000e-01
GFM1	85476	broad.mit.edu	37	3	158399842	158399842	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158399842G>T	ENST00000486715.1	+	14	2017	c.1660G>T	c.(1660-1662)Ggt>Tgt	p.G554C	GFM1_ENST00000478576.1_Missense_Mutation_p.G554C|GFM1_ENST00000264263.5_Missense_Mutation_p.G573C	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1			22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		AAAAGTAATAGGTGTCCTGGA	0.383000																								0							SO:0001583	missense			ENST00000486715.1	1	1	hg19	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437298	0.83885	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.30182	1.54;1.54;1.54	6.03	5.15	0.70609	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69684	-0.5079	10	0.72032	D	0.01	-22.9342	15.4147	0.74956	0.0664:0.0:0.9336:0.0	.	573;554;554	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	C	554;554;573	ENSP00000419038:G554C;ENSP00000418755:G554C;ENSP00000264263:G573C	ENSP00000264263:G573C	G	+	1	0	GFM1	159882536	1.000000	0.71417	0.945000	0.38365	0.981000	0.71138	9.461000	0.97646	1.561000	0.49584	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	0	0	0	8	202	0	34	1	9.490684e-01	11	124	0	34	2		0	0	0	0	0	2	1	9.884948e-01	8	196	0	34	2								-9.880560	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.480000	0.220000	1.000000	0.440000	0.519213	0.480000	0	3.300000e-01	6.900000e-01
IFT80	57560	broad.mit.edu	37	3	160073820	160073820	+	Missense_Mutation	SNP	C	C	T	rs144738877	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073820C>T	ENST00000326448.7	-	8	1190	c.758G>A	c.(757-759)cGc>cAc	p.R253H	IFT80_ENST00000483465.1_Missense_Mutation_p.R116H|IFT80_ENST00000496589.1_Missense_Mutation_p.R116H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80			36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		ATCACACAAGCGTAAAGTATG	0.423000																								0							SO:0001583	missense			ENST00000326448.7	1	1	hg19	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650169	0.67472	0.0	5.81E-4	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.210664	0.27384	U	0.019619	T	0.73289	0.3568	M	0.84846	2.72	0.80722	D	1	B	0.24368	0.102	B	0.23419	0.046	T	0.73889	-0.3840	10	0.66056	D	0.02	-15.0695	19.1062	0.93296	0.0:1.0:0.0:0.0	.	253	Q9P2H3	IFT80_HUMAN	H	253;116;116;116	ENSP00000312778:R253H;ENSP00000418196:R116H;ENSP00000420646:R116H;ENSP00000418602:R116H	ENSP00000312778:R253H	R	-	2	0	IFT80	161556514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	2.520000	0.84964	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	1	0	1	89	445	0	123	1	9.965873e-01	10	35	0	123	2		0	0	0	0	0	2	1	1	89	437	0	123	2								-20.000000	1	0	121412	17	46	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFT80	57560	broad.mit.edu	37	3	160073860	160073860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073860C>T	ENST00000326448.7	-	8	1150	c.718G>A	c.(718-720)Gat>Aat	p.D240N	IFT80_ENST00000483465.1_Missense_Mutation_p.D103N|IFT80_ENST00000496589.1_Missense_Mutation_p.D103N|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80			36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		AATTCTCCATCTGGAGCCCAG	0.413000																								0							SO:0001583	missense			ENST00000326448.7	1	1	hg19	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517515	0.64634	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.62498	1.3;0.02;0.02;1.37	5.37	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.56097	U	0.000030	T	0.64907	0.2641	L	0.31476	0.935	0.80722	D	1	D	0.56968	0.978	P	0.60473	0.875	T	0.63301	-0.6668	10	0.34782	T	0.22	-12.0688	13.5991	0.62010	0.0:0.9256:0.0:0.0744	.	240	Q9P2H3	IFT80_HUMAN	N	240;103;103;103	ENSP00000312778:D240N;ENSP00000418196:D103N;ENSP00000420646:D103N;ENSP00000418602:D103N	ENSP00000312778:D240N	D	-	1	0	IFT80	161556554	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.422000	0.80217	1.268000	0.44264	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	1	0	0	22	419	0	95	1	7.320909e-01	5	46	0	95	2		0	0	0	0	0	2	1	9.999987e-01	22	414	0	95	2								-5.294046	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.600000	0.380000	1.000000	0.590000	0.629609	0.600000	0	4.800000e-01	7.600000e-01
SMC4	10051	broad.mit.edu	37	3	160149468	160149468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160149468C>A	ENST00000357388.3	+	21	3603	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4			48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		GAAGATAATCCTATTGAAGAG	0.343000																								0							SO:0001583	missense			ENST00000357388.3	1	1	hg19	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013696	0.54468	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77620	-0.84;-1.11;-0.83;-1.11;-0.84	6.06	5.18	0.71444	RecF/RecN/SMC (1);	0.091308	0.85682	N	0.000000	T	0.74496	0.3724	L	0.58510	1.815	0.53688	D	0.99997	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.18871	0.004;0.012;0.016;0.023	T	0.69316	-0.5177	10	0.28530	T	0.3	-6.5535	15.0777	0.72090	0.2585:0.7415:0.0:0.0	.	993;1026;1026;1051	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	1051;993;1026;993;1051;645	ENSP00000349961:P1051H;ENSP00000353225:P993H;ENSP00000417964:P1026H;ENSP00000420734:P993H;ENSP00000341382:P1051H	ENSP00000341382:P1051H	P	+	2	0	SMC4	161632162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.637000	0.54324	1.554000	0.49487	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1	0	0	1	43	215	1	63	1	9.917068e-01	31	70	1	63	8		0	0	0	0	0	2	1	9.999890e-01	43	212	1	63	14								-2.923597	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TRIM59	286827	broad.mit.edu	37	3	160156199	160156199	+	Missense_Mutation	SNP	C	C	T	rs142551772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156199C>T	ENST00000309784.4	-	3	958	c.773G>A	c.(772-774)cGc>cAc	p.R258H	TRIM59_ENST00000543469.1_Missense_Mutation_p.R258H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59			15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		TACATGCTGGCGTACATCATC	0.378000																								0							SO:0001583	missense			ENST00000309784.4	1	1	hg19	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971880	0.53614	0.0	3.49E-4	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.25749	1.99;1.78	5.77	4.89	0.63831	.	0.109676	0.64402	D	0.000014	T	0.18467	0.0443	L	0.33485	1.01	0.33875	D	0.635472	B	0.26041	0.14	B	0.17722	0.019	T	0.14671	-1.0464	9	.	.	.	-13.8692	12.589	0.56434	0.0:0.8694:0.0:0.1306	.	258	Q8IWR1	TRI59_HUMAN	H	258	ENSP00000444313:R258H;ENSP00000311219:R258H	.	R	-	2	0	TRIM59	161638893	0.155000	0.22806	0.804000	0.32291	0.439000	0.31926	1.478000	0.35442	2.724000	0.93272	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	1	0	1	116	526	0	131	1	9.756911e-01	6	23	0	131	2		0	0	0	0	0	2	1	1	116	516	0	130	2								-4.255993	1	1	121410	78	52	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM59	286827	broad.mit.edu	37	3	160156854	160156854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156854C>A	ENST00000309784.4	-	3	303	c.118G>T	c.(118-120)Gca>Tca	p.A40S	TRIM59_ENST00000543469.1_Missense_Mutation_p.A40S|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A40S	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59			15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		TTACCAGATGCCTGAAGAATG	0.358000																								0							SO:0001583	missense			ENST00000309784.4	1	1	hg19	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857260	0.71834	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222;ENST00000471155;ENST00000494486;ENST00000468542	T;T;D;D;D;D;D;D	0.92752	1.11;1.11;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.258560	0.39615	N	0.001303	D	0.83667	0.5304	N	0.10618	0.0049999999999999	0.27882	N	0.939651	B	0.32128	0.357	B	0.38225	0.268	T	0.74562	-0.3624	9	.	.	.	8.2121	10.7133	0.45997	0.1289:0.6954:0.1758:0.0	.	40	Q8IWR1	TRI59_HUMAN	S	40;40;40;40;68;40;40;47	ENSP00000444313:A40S;ENSP00000311219:A40S;ENSP00000417081:A40S;ENSP00000420520:A40S;ENSP00000418856:A68S;ENSP00000418699:A40S;ENSP00000417605:A40S;ENSP00000420451:A47S	.	A	-	1	0	TRIM59	161639548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.655000	0.46707	2.941000	0.99782	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	0	0	0	15	415	0	68	0	2.105387e-01	0	23	0	68	2		0	0	0	0	0	2	1	9.998628e-01	15	409	0	67	2								-14.405580	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.420000	0.240000	1.000000	0.410000	0.465105	0.420000	0	3.200000e-01	5.700000e-01
PPM1L	151742	broad.mit.edu	37	3	160474238	160474238	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160474238A>G	ENST00000498165.1	+	1	243	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	PPM1L_ENST00000497343.1_Missense_Mutation_p.I48V|RP11-16N11.2_ENST00000566372.1_RNA	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L			13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		GGTGAAGACCATCGTGAAGTC	0.567000													Pancreas(86;250 1994 13715 43211)											0							SO:0001583	missense			ENST00000498165.1	0	1	hg19	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917566	0.52546	.	.	ENSG00000163590	ENST00000497343;ENST00000498165	T	0.22336	1.96	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14559	-1.0468	10	0.14252	T	0.57	.	13.3993	0.60872	1.0:0.0:0.0:0.0	.	48	Q5SGD2	PPM1L_HUMAN	V	48	ENSP00000417659:I48V	ENSP00000420354:I48V	I	+	1	0	PPM1L	161956932	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.668000	0.91158	1.775000	0.52247	0.402000	0.26972	ATC		TCGA-IB-7651-01A-11D-2154-08	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	0	0	0	10	355	0	66	1	8.499692e-02	2	14	0	66	2		0	0	0	0	0	2	1	9.966666e-01	9	349	0	66	2								-10.221890	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.340000	0.170000	1.000000	0.320000	0.386377	0.340000	0	2.400000e-01	4.800000e-01
NMD3	51068	broad.mit.edu	37	3	160952621	160952621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160952621C>T	ENST00000460469.1	+	5	919	c.464C>T	c.(463-465)gCt>gTt	p.A155V	NMD3_ENST00000472947.1_Missense_Mutation_p.A155V|NMD3_ENST00000351193.2_Missense_Mutation_p.A155V|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor			25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		TTCTGGAAGGCTGTGATTCAA	0.373000																								0							SO:0001583	missense			ENST00000460469.1	1	1	hg19	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313233	0.95655	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T;T	0.62941	0.45;0.21;0.05;-0.01;0.21;0.35;0.05	4.83	4.83	0.62350	.	0.103596	0.64402	D	0.000003	D	0.85106	0.5621	H	0.95402	3.665	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.72075	0.976;0.96	D	0.90009	0.4120	10	0.87932	D	0	-23.6263	17.2642	0.87081	0.0:1.0:0.0:0.0	.	155;155	C9JA08;Q96D46	.;NMD3_HUMAN	V	155;155;155;155;155;155;155;35	ENSP00000418980:A155V;ENSP00000419030:A155V;ENSP00000307525:A155V;ENSP00000417559:A155V;ENSP00000418908:A155V;ENSP00000419647:A155V;ENSP00000419004:A155V	ENSP00000307525:A155V	A	+	2	0	NMD3	162435315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.376000	0.81061	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	1	0	1	101	531	0	97	1	1	59	145	0	97	2		0	0	0	0	0	2	1	1	100	521	0	96	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OXNAD1	92106	broad.mit.edu	37	3	16343174	16343174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16343174G>A	ENST00000285083.5	+	7	939	c.474G>A	c.(472-474)gaG>gaA	p.E158E	OXNAD1_ENST00000435829.2_Silent_p.E176E|OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000605932.1_Silent_p.E158E|OXNAD1_ENST00000606098.1_Silent_p.E158E	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1			13					TGGGTGGAGAGTTCTTCTTTG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000285083.5	1	1	hg19	CCDS2630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	1	0	1	29	144	0	47	1	9.992451e-01	14	45	0	47	2		0	0	0	0	0	2	1	1	29	141	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
RFTN1	23180	broad.mit.edu	37	3	16419338	16419338	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16419338C>T	ENST00000334133.4	-	5	985	c.713G>A	c.(712-714)aGc>aAc	p.S238N	RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1			38					GGAGGGTGAGCTGGGCTGCTT	0.642000																								0							SO:0001583	missense			ENST00000334133.4	1	1	hg19	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308571	0.40895	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.49720	1.43;1.44;0.77	5.36	2.57	0.30868	.	2.132120	0.01784	N	0.031937	T	0.31136	0.0787	N	0.16307	0.4	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.11329	0.004;0.006	T	0.26467	-1.0102	10	0.02654	T	1	-1.0799	8.8139	0.34985	0.0:0.6756:0.0:0.3244	.	202;238	G3XAJ6;Q14699	.;RFTN1_HUMAN	N	202;238;238	ENSP00000403926:S202N;ENSP00000334153:S238N;ENSP00000403997:S238N	ENSP00000334153:S238N	S	-	2	0	RFTN1	16394342	0.000000	0.05858	0.015000	0.15790	0.471000	0.32888	-0.151000	0.10175	0.640000	0.30582	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	1	0	0	12	272	0	40	0	9.953678e-01	0	209	0	40	2		0	0	0	0	0	2	1	9.990951e-01	12	268	0	40	2								-13.668870	1	1	121412	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.520000	0.280000	1.000000	0.500000	0.555109	0.520000	0	3.800000e-01	7.100000e-01
RFTN1	23180	broad.mit.edu	37	3	16450939	16450939	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450939G>A	ENST00000334133.4	-	4	656	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RFTN1_ENST00000432519.1_Silent_p.C92C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1			38					AGGAGGAACAGCAATCTAATT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000334133.4	1	1	hg19	CCDS33712.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	0	0	0	17	417	0	71	0	9.960097e-01	0	221	0	71	2		0	0	0	0	0	2	1	9.999579e-01	16	406	0	71	2								-4.105498	1	0	121412	2	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.470000	0.280000	1.000000	0.460000	0.512093	0.470000	0	3.700000e-01	6.200000e-01
RFTN1	23180	broad.mit.edu	37	3	16450991	16450991	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450991C>A	ENST00000334133.4	-	4	605		c.e4-1		RFTN1_ENST00000432519.1_Splice_Site	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1			38					TTTCTGAGATCTGAAGAGAAA	0.438000																								0							SO:0001630	splice_region_variant			ENST00000334133.4	1	1	hg19	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488476	0.44249	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1773	0.72924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFTN1	16425995	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	4.084000	0.57650	2.656000	0.90262	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	1	0	0	53	222	0	50	0	3.856842e-02	0	2	0	50	2		0	0	0	0	0	2	1	1	53	216	0	50	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SI	6476	broad.mit.edu	37	3	164735356	164735356	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735356C>A	ENST00000264382.3	-	31	3801	c.3739G>T	c.(3739-3741)Gtg>Ttg	p.V1247L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)			218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)		Acarbose(DB00284)|Scopolamine(DB00747)	TTAGCAGCCACCATAGCGTCA	0.343000										HNSCC(35;0.089)														0							SO:0001583	missense			ENST00000264382.3	1	1	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	3.381	-0.126324	0.06795	.	.	ENSG00000090402	ENST00000264382	D	0.91295	-2.82	5.31	1.04	0.20106	Glycoside hydrolase, superfamily (1);	0.966348	0.08594	N	0.922511	D	0.83681	0.5307	L	0.41906	1.305	0.18873	N	0.999984	B	0.12013	0.005	B	0.21546	0.035	T	0.64892	-0.6300	10	0.11182	T	0.66	.	5.9688	0.19340	0.0:0.502:0.1289:0.3691	.	1247	P14410	SUIS_HUMAN	L	1247	ENSP00000264382:V1247L	ENSP00000264382:V1247L	V	-	1	0	SI	166218050	0.096000	0.21769	0.166000	0.22797	0.012000	0.07955	0.350000	0.20079	0.006000	0.14734	0.591000	0.81541	GTG		TCGA-IB-7651-01A-11D-2154-08	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	1	0	1	34	234	0	25	1	1.722017e-02	2	0	0	25	2		0	0	0	0	0	2	1	1	34	227	0	24	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999466	0.990000	1	9.900000e-01	1
SI	6476	broad.mit.edu	37	3	164735363	164735363	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735363G>A	ENST00000264382.3	-	31	3794	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)			218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)		Acarbose(DB00284)|Scopolamine(DB00747)	CCACCATAGCGTCATATAATT	0.348000										HNSCC(35;0.089)														0							SO:0001819	synonymous_variant			ENST00000264382.3	1	1	hg19	CCDS3196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	1	0	1	28	229	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	1	27	224	0	23	2								-11.939590	1	0	121400	7	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.890000	1.000000	1.000000	0.993280	0.990000	1	9.900000e-01	1
SI	6476	broad.mit.edu	37	3	164748559	164748559	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164748559G>A	ENST00000264382.3	-	25	2895	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)			218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)		Acarbose(DB00284)|Scopolamine(DB00747)	TCTGCATCTGGATAACAATTA	0.328000										HNSCC(35;0.089)														0							SO:0001583	missense			ENST00000264382.3	1	1	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936796	0.52972	.	.	ENSG00000090402	ENST00000264382	T	0.12984	2.63	4.94	4.94	0.65067	P-type trefoil (4);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.89785	3.06	0.48901	D	0.999728	D	0.89917	1.0	D	0.97110	1.0	T	0.54316	-0.8312	10	0.87932	D	0	.	15.0109	0.71550	0.0:0.0:1.0:0.0	.	945	P14410	SUIS_HUMAN	S	945	ENSP00000264382:P945S	ENSP00000264382:P945S	P	-	1	0	SI	166231253	1.000000	0.71417	0.997000	0.53966	0.240000	0.25518	5.498000	0.66931	2.563000	0.86464	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	1	0	1	73	346	0	80	1	8.249189e-02	2	1	0	80	2		0	0	0	0	0	2	1	1	70	339	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK3	22865	broad.mit.edu	37	3	164906516	164906516	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906516G>T	ENST00000475390.1	-	2	2546	c.2103C>A	c.(2101-2103)atC>atA	p.I701I	SLITRK3_ENST00000241274.3_Silent_p.I701I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3			119					ATTGCATTTGGATGCCAGTAA	0.577000										HNSCC(40;0.11)														0							SO:0001819	synonymous_variant			ENST00000475390.1	1	1	hg19	CCDS3197.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	1	0	1	75	296	0	76	0	2.709264e-01	0	5	0	76	2		0	0	0	0	0	2	1	1	72	286	0	75	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK3	22865	broad.mit.edu	37	3	164906549	164906549	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906549G>A	ENST00000475390.1	-	2	2513	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	SLITRK3_ENST00000241274.3_Silent_p.S690S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3			119					CCTGCCGCTTGCTTCTGAAGG	0.562000										HNSCC(40;0.11)														0							SO:0001819	synonymous_variant			ENST00000475390.1	1	1	hg19	CCDS3197.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	1	0	0	57	272	0	74	0	3.525805e-01	0	7	0	74	2		0	0	0	0	0	2	1	1	57	263	0	72	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK3	22865	broad.mit.edu	37	3	164906811	164906811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906811C>T	ENST00000475390.1	-	2	2251	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3			119					CTCAATAGTGCGCACATCACG	0.547000										HNSCC(40;0.11)														0							SO:0001583	missense			ENST00000475390.1	1	1	hg19	CCDS3197.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.60	2.584322	0.46110	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53206	0.63;0.63	5.7	5.7	0.88788	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38436	N	0.001697	T	0.70692	0.3253	M	0.90019	3.08	0.48571	D	0.999676	D	0.76494	0.999	P	0.61722	0.893	T	0.76438	-0.2959	10	0.87932	D	0	-16.8764	13.0864	0.59142	0.0:0.9257:0.0:0.0743	.	603	O94933	SLIK3_HUMAN	H	603	ENSP00000420091:R603H;ENSP00000241274:R603H	ENSP00000241274:R603H	R	-	2	0	SLITRK3	166389505	0.999000	0.42202	0.998000	0.56505	0.383000	0.30230	3.207000	0.51106	2.836000	0.97738	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	1	0	1	47	197	0	45	0	9.976854e-02	0	3	0	45	2		0	0	0	0	0	2	1	1	46	193	0	45	2								-3.548859	1	1	121412	1	22	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCHE	590	broad.mit.edu	37	3	165491178	165491178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165491178C>T	ENST00000264381.3	-	4	1967	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase			55				Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATTAGAGACCCACACAACTT	0.333000																								0							SO:0001583	missense			ENST00000264381.3	1	1	hg19	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187387	0.57909	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.78003	-0.12;-1.14;-1.12	5.18	5.18	0.71444	Acetylcholinesterase, tetramerisation (2);	0.455528	0.22190	N	0.063389	T	0.73233	0.3561	L	0.45581	1.43	0.42790	D	0.993894	B	0.14805	0.011	B	0.18263	0.021	T	0.67530	-0.5647	10	0.25751	T	0.34	.	18.0353	0.89301	0.0:1.0:0.0:0.0	.	601	P06276	CHLE_HUMAN	S	601;131;63	ENSP00000264381:G601S;ENSP00000418325:G131S;ENSP00000443583:G63S	ENSP00000264381:G601S	G	-	1	0	BCHE	166973872	1.000000	0.71417	0.500000	0.27589	0.988000	0.76386	4.683000	0.61679	2.552000	0.86080	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	1	25	97	0	26	0	4.529032e-02	0	2	0	26	2		0	0	0	0	0	2	1	9.999999e-01	24	96	0	26	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
BCHE	590	broad.mit.edu	37	3	165504015	165504015	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165504015C>T	ENST00000264381.3	-	3	1768	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase			55				Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCTTGTTGACTCTGTATTCA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000264381.3	1	1	hg19	CCDS3198.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	1	34	179	0	41	0	3.194299e-01	0	7	0	41	2		0	0	0	0	0	2	1	1	34	173	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
BCHE	590	broad.mit.edu	37	3	165547486	165547486	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165547486A>C	ENST00000264381.3	-	2	1502	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase			55				Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAATAGTAGAAAAAGGCATTA	0.438000																								0							SO:0001583	missense			ENST00000264381.3	1	1	hg19	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	8.862	0.947231	0.18356	.	.	ENSG00000114200	ENST00000264381	T	0.67171	-0.25	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.082823	0.64402	D	0.000001	T	0.50803	0.1637	N	0.13043	0.29	0.80722	D	1	B	0.14438	0.01	B	0.22601	0.04	T	0.45425	-0.9262	10	0.25106	T	0.35	.	14.8209	0.70070	1.0:0.0:0.0:0.0	.	446	P06276	CHLE_HUMAN	V	446	ENSP00000264381:F446V	ENSP00000264381:F446V	F	-	1	0	BCHE	167030180	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.997000	0.49457	2.105000	0.64084	0.482000	0.46254	TTC		TCGA-IB-7651-01A-11D-2154-08	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	1	95	512	0	101	0	3.666898e-01	0	8	0	101	2		0	0	0	0	0	2	1	1	93	500	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBBX	79740	broad.mit.edu	37	3	167031904	167031904	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167031904A>C	ENST00000392766.2	-	16	1615	c.1275T>G	c.(1273-1275)agT>agG	p.S425R	ZBBX_ENST00000392764.1_Splice_Site_p.S396R|ZBBX_ENST00000455345.2_Splice_Site_p.S425R|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000307529.5_Splice_Site_p.S425R|ZBBX_ENST00000392767.2_Splice_Site_p.S425R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing			70					GAAAAGCACAACTTTCACATG	0.279000																								0							SO:0001630	splice_region_variant			ENST00000392766.2	1	0	hg19	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	5.686	0.311074	0.10789	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.15256	2.62;2.62;2.64;2.64;2.44	5.29	4.1	0.47936	.	0.565498	0.19403	N	0.115122	T	0.15478	0.0373	L	0.41824	1.3	0.30198	N	0.798877	P;B	0.39157	0.662;0.21	B;B	0.38655	0.278;0.144	T	0.06391	-1.0829	10	0.87932	D	0	.	9.318	0.37946	0.8187:0.1813:0.0:0.0	.	425;425	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	425;425;425;425;396	ENSP00000376519:S425R;ENSP00000376520:S425R;ENSP00000390232:S425R;ENSP00000305065:S425R;ENSP00000376517:S396R	ENSP00000305065:S425R	S	-	3	2	ZBBX	168514598	0.501000	0.26099	0.643000	0.29450	0.011000	0.07611	0.742000	0.26216	0.911000	0.36747	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	1	0	1	46	222	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	46	218	0	55	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBBX	79740	broad.mit.edu	37	3	167078481	167078481	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167078481G>T	ENST00000392766.2	-	7	644	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing			70					TGTTCCTTCAGCAATTTTAAT	0.254000																								0							SO:0001583	missense			ENST00000392766.2	1	1	hg19	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752272	0.49362	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.40756	2.36;2.36;2.37;2.37;2.19;1.02	5.71	3.92	0.45320	.	.	.	.	.	T	0.59142	0.2172	M	0.66939	2.045	0.32798	N	0.500289	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67647	-0.5617	9	0.66056	D	0.02	-2.8561	8.7091	0.34374	0.1735:0.0:0.8265:0.0	.	102;102	A8MT70-2;A8MT70	.;ZBBX_HUMAN	M	102;102;102;102;73;102	ENSP00000376519:L102M;ENSP00000376520:L102M;ENSP00000390232:L102M;ENSP00000305065:L102M;ENSP00000376517:L73M;ENSP00000419307:L102M	ENSP00000305065:L102M	L	-	1	2	ZBBX	168561175	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.899000	0.56288	0.887000	0.36136	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	1	0	1	21	121	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.999984e-01	21	119	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999467	0.990000	1	9.900000e-01	1
SERPINI2	5276	broad.mit.edu	37	3	167159914	167159914	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167159914C>A	ENST00000476257.1	-	10	1499	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2			41					GAATCTAAATCTCTTCCTTTT	0.323000																								0							SO:0001583	missense			ENST00000476257.1	1	1	hg19	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121718	0.77436	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	6.07	6.07	0.98685	.	0.102307	0.64402	D	0.000004	D	0.90648	0.7067	L	0.54323	1.7	0.45239	D	0.998244	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90775	0.4675	10	0.87932	D	0	.	16.1594	0.81686	0.0:1.0:0.0:0.0	.	401;401	B4DDY9;O75830	.;SPI2_HUMAN	Y	401	ENSP00000420621:D401Y;ENSP00000417692:D401Y;ENSP00000264677:D401Y;ENSP00000419407:D401Y	ENSP00000264677:D401Y	D	-	1	0	SERPINI2	168642608	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.130000	0.57964	2.885000	0.99019	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	1	0	0	11	97	0	27	0	9.277971e-01	0	43	0	27	2		0	0	0	0	0	2	1	9.986260e-01	11	97	0	26	2								-17.383660	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.660000	1.000000	1.000000	0.961433	0.990000	1	9.100000e-01	1
WDR49	151790	broad.mit.edu	37	3	167246892	167246892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167246892C>T	ENST00000308378.3	-	10	1603	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49			50					GGTAAGGTATCGATTCATCTT	0.343000																								0							SO:0001583	missense			ENST00000308378.3	1	1	hg19	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.267|0.267	-0.995346|-0.995346	0.02145|0.02145	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600;ENST00000493061|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.41400	.|1.55;1.29;1.0	5.52|5.52	-3.01|-3.01	0.05463|0.05463	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|1.026120	.|0.07712	.|N	.|0.942286	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.16201|0.16201	0.385|0.385	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B	.|0.18166	.|0.026;0.005	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.35748|0.35748	-0.9776|-0.9776	5|10	.|0.02654	.|T	.|1	.|.	13.1587|13.1587	0.59533|0.59533	0.0:0.2771:0.0:0.7229|0.0:0.2771:0.0:0.7229	.|.	.|497;433	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	N|Q	509;71|433;258;497	.|ENSP00000311343:R433Q;ENSP00000420508:R258Q;ENSP00000410863:R497Q	.|ENSP00000311343:R433Q	D|R	-|-	1|2	0|0	WDR49|WDR49	168729586|168729586	0.671000|0.671000	0.27521|0.27521	0.106000|0.106000	0.21319|0.21319	0.317000|0.317000	0.28152|0.28152	-0.169000|-0.169000	0.09911|0.09911	-0.473000|-0.473000	0.06871|0.06871	-0.253000|-0.253000	0.11424|0.11424	GAT|CGA		TCGA-IB-7651-01A-11D-2154-08	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	1	0	1	54	225	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	54	223	0	63	2								-3.376977	1	1	121368	1	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR49	151790	broad.mit.edu	37	3	167293928	167293928	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167293928G>T	ENST00000308378.3	-	4	569	c.264C>A	c.(262-264)ctC>ctA	p.L88L	WDR49_ENST00000479765.1_Silent_p.L429L|WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000476376.1_5'Flank	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49			50					GAATATCCCAGAGTCTCAAAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000308378.3	1	1	hg19	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	6.982	0.551242	0.13374	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.76	4.89	0.63831	.	.	.	.	.	T	0.64316	0.2587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63120	-0.6708	4	.	.	.	.	12.858	0.57897	0.0757:0.0:0.9243:0.0	.	.	.	.	Y	153	.	.	S	-	2	0	WDR49	168776622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.848000	0.39309	1.472000	0.48140	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	1	0	0	39	166	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	39	161	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINI1	5274	broad.mit.edu	37	3	167508215	167508215	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167508215C>T	ENST00000295777.5	+	3	737	c.306C>T	c.(304-306)agC>agT	p.S102S	SERPINI1_ENST00000446050.2_Silent_p.S102S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1			20					CTAAAGAGAGCCAATATGTGA	0.328000																								0							SO:0001819	synonymous_variant			ENST00000295777.5	1	1	hg19	CCDS3203.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1	1	0	0	53	358	0	73	1	9.748598e-01	2	40	0	73	2		0	0	0	0	0	2	1	1	52	351	0	72	2								-19.988670	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
GOLIM4	27333	broad.mit.edu	37	3	167747014	167747014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167747014C>A	ENST00000470487.1	-	11	2199	c.1510G>T	c.(1510-1512)Gga>Tga	p.G504*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.G476*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4			47					TCACCACCTCCTTCCTCTCCT	0.373000																								0							SO:0001587	stop_gained			ENST00000470487.1	0	1	hg19	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	45	11.814472	0.99605	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	.	0.253136	0.39615	N	0.001302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.2927	0.90136	0.0:1.0:0.0:0.0	.	.	.	.	X	504;476	.	ENSP00000309893:G476X	G	-	1	0	GOLIM4	169229708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.734000	0.68580	2.325000	0.78763	0.549000	0.68633	GGA		TCGA-IB-7651-01A-11D-2154-08	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2	1	0	0	65	234	0	68	1	1	6	360	0	68	2		0	0	0	0	0	2	1	1	64	227	0	67	2								-3.640115	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MECOM	2122	broad.mit.edu	37	3	168806814	168806814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168806814G>T	ENST00000464456.1	-	14	4168	c.2968C>A	c.(2968-2970)Ccg>Acg	p.P990T	MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T|MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					CTGTGTAACGGCTGCTTAAGT	0.388000																								0							SO:0001583	missense			ENST00000464456.1	1	1	hg19	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.399013	0.01165	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.04049	3.78;3.78;3.73;3.88;3.73;3.78;3.72;3.88	5.63	4.75	0.60458	.	0.188744	0.37857	N	0.001913	T	0.02230	0.0069	N	0.03154	-0.405	0.54753	D	0.999988	B;B;B;B;B	0.31193	0.312;0.028;0.208;0.069;0.017	B;B;B;B;B	0.25884	0.064;0.027;0.029;0.043;0.012	T	0.39663	-0.9603	10	0.02654	T	1	-3.2994	16.4979	0.84250	0.0:0.0:0.8684:0.1316	.	1187;991;1178;1064;999	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1064;999;990;1000;1178;999;990;1000	ENSP00000264674:P1064T;ENSP00000376493:P999T;ENSP00000419770:P990T;ENSP00000420048:P1000T;ENSP00000417899:P1178T;ENSP00000419995:P999T;ENSP00000420466:P990T;ENSP00000394302:P1000T	ENSP00000264674:P1064T	P	-	1	0	MECOM	170289508	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	6.803000	0.75180	1.502000	0.48669	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1	64	388	0	100	1	1	68	97	0	100	2		0	0	0	0	0	2	1	1	61	383	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MECOM	2122	broad.mit.edu	37	3	168807822	168807822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168807822C>T	ENST00000464456.1	-	13	3976	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	MECOM_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T|MECOM_ENST00000433243.2_Missense_Mutation_p.A936T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					ATCTCCAGGGCACTGGTTTCT	0.438000																								0							SO:0001583	missense			ENST00000464456.1	1	1	hg19	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	4.050	0.006924	0.07866	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05319	3.5;3.5;3.47;3.6;3.46;3.5;3.47;3.6	5.46	1.75	0.24633	.	1.124900	0.06634	N	0.759856	T	0.07098	0.0180	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.0;0.002;0.001	T	0.42447	-0.9451	10	0.44086	T	0.13	1.011	9.325	0.37988	0.0:0.5529:0.0:0.4471	.	1123;927;1114;1000;935	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	T	1000;935;926;936;1114;935;926;936	ENSP00000264674:A1000T;ENSP00000376493:A935T;ENSP00000419770:A926T;ENSP00000420048:A936T;ENSP00000417899:A1114T;ENSP00000419995:A935T;ENSP00000420466:A926T;ENSP00000394302:A936T	ENSP00000264674:A1000T	A	-	1	0	MECOM	170290516	0.040000	0.19996	0.003000	0.11579	0.000000	0.00434	0.015000	0.13355	0.043000	0.15746	-0.827000	0.03088	GCC		TCGA-IB-7651-01A-11D-2154-08	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1	106	513	0	117	1	1	58	92	0	117	2		0	0	0	0	0	2	1	1	105	503	0	116	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MECOM	2122	broad.mit.edu	37	3	168819903	168819903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168819903G>A	ENST00000464456.1	-	9	3325	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	MECOM_ENST00000472280.1_Missense_Mutation_p.P719S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000494292.1_Missense_Mutation_p.P897S|MECOM_ENST00000433243.2_Missense_Mutation_p.P719S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					AGGGCATTGGGAGGCGCCCTG	0.512000																								0							SO:0001583	missense			ENST00000464456.1	1	1	hg19	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562745	0.13498	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.08282	3.21;3.21;3.12;3.31;3.12;3.21;3.11;3.31	5.45	5.45	0.79879	.	0.088883	0.49916	D	0.000133	T	0.04770	0.0129	N	0.14661	0.345	0.52099	D	0.999948	B;B;B;B;B	0.16166	0.016;0.013;0.005;0.016;0.009	B;B;B;B;B	0.17722	0.019;0.007;0.008;0.01;0.004	T	0.17745	-1.0359	10	0.02654	T	1	-11.5724	12.9639	0.58473	0.074:0.0:0.926:0.0	.	906;710;897;783;718	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	783;718;709;719;897;718;709;719	ENSP00000264674:P783S;ENSP00000376493:P718S;ENSP00000419770:P709S;ENSP00000420048:P719S;ENSP00000417899:P897S;ENSP00000419995:P718S;ENSP00000420466:P709S;ENSP00000394302:P719S	ENSP00000264674:P783S	P	-	1	0	MECOM	170302597	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	6.367000	0.73099	2.730000	0.93505	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1	35	209	0	55	1	9.999579e-01	37	58	0	55	2		0	0	0	0	0	2	1	1	33	204	0	55	2								-3.148409	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
MECOM	2122	broad.mit.edu	37	3	168833312	168833312	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168833312G>T	ENST00000464456.1	-	7	2984	c.1784C>A	c.(1783-1785)gCc>gAc	p.A595D	MECOM_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000494292.1_Missense_Mutation_p.A783D|MECOM_ENST00000433243.2_Missense_Mutation_p.A596D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					TGTCCCACTGGCTCTACTCCT	0.532000																								0							SO:0001583	missense			ENST00000464456.1	1	1	hg19	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814546	0.50527	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.08458	3.38;3.37;3.34;3.48;3.32;3.37;3.33;3.48;3.09	5.61	5.61	0.85477	.	0.343104	0.21326	N	0.076363	T	0.21921	0.0528	L	0.49350	1.555	0.51012	D	0.999901	D;D;D;D;P	0.60575	0.988;0.985;0.98;0.985;0.932	P;P;P;P;P	0.57776	0.827;0.775;0.696;0.775;0.454	T	0.00071	-1.2131	10	0.46703	T	0.11	-9.0053	19.6299	0.95698	0.0:0.0:1.0:0.0	.	783;596;783;660;595	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	660;595;595;596;783;595;595;596;246	ENSP00000264674:A660D;ENSP00000376493:A595D;ENSP00000419770:A595D;ENSP00000420048:A596D;ENSP00000417899:A783D;ENSP00000419995:A595D;ENSP00000420466:A595D;ENSP00000394302:A596D;ENSP00000417506:A246D	ENSP00000264674:A660D	A	-	2	0	MECOM	170316006	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	5.709000	0.68384	2.639000	0.89480	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1	74	274	0	64	1	1	65	84	0	64	2		0	0	0	0	0	2	1	1	65	262	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MECOM	2122	broad.mit.edu	37	3	168834009	168834009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168834009C>T	ENST00000464456.1	-	7	2287	c.1087G>A	c.(1087-1089)Gta>Ata	p.V363I	MECOM_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000494292.1_Missense_Mutation_p.V551I|MECOM_ENST00000433243.2_Missense_Mutation_p.V364I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					TTGTCCCCTACAGATGGGTGT	0.473000																								0							SO:0001583	missense			ENST00000464456.1	1	1	hg19	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851529	0.17034	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05382	3.5;3.5;3.46;3.6;3.45;3.5;3.45;3.6	6.03	5.15	0.70609	.	0.000000	0.44688	D	0.000431	T	0.05960	0.0155	L	0.34521	1.04	0.29860	N	0.827733	B;B;B;B;B	0.13594	0.008;0.002;0.005;0.004;0.0	B;B;B;B;B	0.12156	0.007;0.007;0.003;0.005;0.001	T	0.10337	-1.0634	10	0.37606	T	0.19	-6.5751	9.695	0.40152	0.0:0.7931:0.0:0.2069	.	551;364;551;428;363	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	I	428;363;363;364;551;363;363;364	ENSP00000264674:V428I;ENSP00000376493:V363I;ENSP00000419770:V363I;ENSP00000420048:V364I;ENSP00000417899:V551I;ENSP00000419995:V363I;ENSP00000420466:V363I;ENSP00000394302:V364I	ENSP00000264674:V428I	V	-	1	0	MECOM	170316703	0.995000	0.38212	1.000000	0.80357	0.904000	0.53231	1.131000	0.31406	1.558000	0.49541	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	1	0	1	89	353	0	90	1	9.999995e-01	38	47	0	90	2		0	0	0	0	0	2	1	1	88	345	0	90	2								-20.000000	1	1	121412	16	44	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MECOM	2122	broad.mit.edu	37	3	169381144	169381144	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169381144C>T	ENST00000494292.1	-	1	114	c.17G>A	c.(16-18)aGg>aAg	p.R6K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					TTTCCTTGCCCTGCCTTTGGA	0.532000																								0							SO:0001583	missense			ENST00000494292.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.8	4.338064	0.81911	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T	0.06608	3.28	4.75	4.75	0.60458	.	.	.	.	.	T	0.19087	0.0458	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.83275	0.996;0.953	T	0.00958	-1.1500	9	0.87932	D	0	.	18.135	0.89616	0.0:1.0:0.0:0.0	.	6;6	Q13465;Q03112-3	MDS1_HUMAN;.	K	6	ENSP00000417899:R6K	ENSP00000419537:R6K	R	-	2	0	MECOM	170863838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.959000	0.76031	2.370000	0.80446	0.455000	0.32223	AGG		TCGA-IB-7651-01A-11D-2154-08	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	1	0	1	14	64	0	11	1	9.994004e-01	36	28	0	11	2		0	0	0	0	0	2	1	9.997802e-01	14	60	0	11	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999373	0.990000	1	9.900000e-01	1
MYNN	55892	broad.mit.edu	37	3	169496762	169496762	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169496762T>C	ENST00000349841.5	+	3	1136	c.473T>C	c.(472-474)gTa>gCa	p.V158A	MYNN_ENST00000392733.1_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|MYNN_ENST00000356716.4_Missense_Mutation_p.V158A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin			16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		AAATCAGAAGTATCTACAGAT	0.363000																								0							SO:0001583	missense			ENST00000349841.5	1	1	hg19	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	T	1.054	-0.674914	0.03378	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.09163	3.19;3.19;3.01;3.01	5.35	-1.78	0.07957	.	0.717193	0.13188	N	0.407007	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42716	-0.9435	10	0.09338	T	0.73	.	1.5239	0.02521	0.1183:0.2205:0.2597:0.4016	.	158;158	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	A	158	ENSP00000349150:V158A;ENSP00000326240:V158A;ENSP00000376492:V158A;ENSP00000440637:V158A	ENSP00000326240:V158A	V	+	2	0	MYNN	170979456	0.035000	0.19736	0.322000	0.25334	0.931000	0.56810	0.174000	0.16743	-0.229000	0.09854	0.528000	0.53228	GTA		TCGA-IB-7651-01A-11D-2154-08	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	0	0	0	9	209	0	51	1	7.841236e-01	3	66	0	51	2		0	0	0	0	0	2	1	9.938891e-01	9	205	0	50	2								-11.688380	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.510000	0.250000	1.000000	0.480000	0.552223	0.510000	0	3.600000e-01	7.300000e-01
LRRIQ4	344657	broad.mit.edu	37	3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4			30					GAGCTTCGCCGAGCTCAGGAA	0.607000																								0							SO:0001583	missense			ENST00000340806.6	1	1	hg19	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755540	0.15846	.	.	ENSG00000188306	ENST00000340806	T	0.56275	0.47	5.56	0.0324	0.14175	.	1.620940	0.03327	N	0.192807	T	0.23688	0.0573	N	0.02854	-0.475	0.09310	N	1	B	0.31655	0.334	B	0.20955	0.032	T	0.19257	-1.0311	10	0.05721	T	0.95	.	9.5188	0.39122	0.1905:0.534:0.2755:0.0	.	255	A6NIV6	LRIQ4_HUMAN	K	255	ENSP00000342188:E255K	ENSP00000342188:E255K	E	+	1	0	LRRIQ4	171023166	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.155000	0.16362	-0.357000	0.08175	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	0	0	1	44	192	1	60		0	0	0	1	60	2		0	0	0	0	0	2	1	9.999930e-01	44	187	1	59	14								-3.488497	1	1	120908	5	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRIQ4	344657	broad.mit.edu	37	3	169548369	169548369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169548369C>A	ENST00000340806.6	+	3	1284	c.1284C>A	c.(1282-1284)tgC>tgA	p.C428*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4			30					TTCTTGATTGCCGGCACAATT	0.438000																								0							SO:0001587	stop_gained			ENST00000340806.6	0	1	hg19	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494819	0.96339	.	.	ENSG00000188306	ENST00000340806	.	.	.	5.69	2.04	0.26737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	7.228	0.26026	0.0:0.5221:0.0:0.4779	.	.	.	.	X	428	.	ENSP00000342188:C428X	C	+	3	2	LRRIQ4	171031063	0.877000	0.30153	0.994000	0.49952	0.959000	0.62525	-0.176000	0.09811	0.547000	0.28938	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	1	0	1	22	113	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.999994e-01	22	113	0	23	2								-3.295846	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999855	0.990000	1	9.900000e-01	1
PHC3	80012	broad.mit.edu	37	3	169846869	169846869	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169846869A>C	ENST00000494943.1	-	8	1423	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R	PHC3_ENST00000495893.2_Missense_Mutation_p.L464R|PHC3_ENST00000467570.1_Missense_Mutation_p.L411R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)			26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		ATGGGATGGAAGATTCAACTG	0.522000																								0							SO:0001583	missense			ENST00000494943.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	14.10	2.434475	0.43224	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33865	1.39;1.4	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000023	T	0.47395	0.1443	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.997	D;D;P;D	0.66351	0.943;0.943;0.878;0.943	T	0.27872	-1.0061	10	0.15952	T	0.53	-11.6484	14.6811	0.69017	1.0:0.0:0.0:0.0	.	411;411;452;464	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	R	452;464;411	ENSP00000420271:L452R;ENSP00000420294:L464R	ENSP00000419089:L411R	L	-	2	0	PHC3	171329563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.432000	0.66514	2.039000	0.60335	0.460000	0.39030	CTT		TCGA-IB-7651-01A-11D-2154-08	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	1	0	1	27	88	0	23	1	9.999521e-01	11	46	0	23	2		0	0	0	0	0	2	1	1	27	85	0	23	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHC3	80012	broad.mit.edu	37	3	169890386	169890386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169890386G>A	ENST00000494943.1	-	3	327	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y|PHC3_ENST00000495893.2_Missense_Mutation_p.H99Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)			26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		CTGCTTAAATGCTGCTGCTGA	0.468000																								0							SO:0001583	missense			ENST00000494943.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.93	2.682923	0.47991	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.46451	0.87;0.89	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.64962	0.2646	M	0.69358	2.11	0.58432	D	0.99999	D;D;D;D;D;P;D;D	0.67145	0.989;0.989;0.981;0.989;0.996;0.908;0.989;0.989	D;D;D;D;D;D;D;D	0.78314	0.969;0.979;0.954;0.979;0.991;0.922;0.979;0.979	T	0.62006	-0.6945	9	.	.	.	-12.3087	19.8505	0.96738	0.0:0.0:1.0:0.0	.	99;99;87;99;95;83;99;99	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	Y	87;99;99;99;99;99;83;99;99;95	ENSP00000420271:H87Y;ENSP00000420294:H99Y	.	H	-	1	0	PHC3	171373080	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	8.893000	0.92498	2.688000	0.91661	0.655000	0.94253	CAT		TCGA-IB-7651-01A-11D-2154-08	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	1	0	1	71	251	0	81	1	9.995176e-01	5	38	0	81	2		0	0	0	0	0	2	1	1	71	250	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCI	5584	broad.mit.edu	37	3	169988246	169988246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169988246G>A	ENST00000295797.4	+	6	793	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota			36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)	Tamoxifen(DB00675)	CGAATATGGGGACTTGGACGC	0.418000																								0							SO:0001583	missense			ENST00000295797.4	1	1	hg19	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	33	5.208961	0.95069	.	.	ENSG00000163558	ENST00000295797	D	0.93659	-3.26	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	9	.	.	.	.	19.5412	0.95275	0.0:0.0:1.0:0.0	.	163	P41743	KPCI_HUMAN	E	163	ENSP00000295797:G163E	.	G	+	2	0	PRKCI	171470940	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.847000	0.99503	2.695000	0.91970	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	1	0	1	74	378	0	88	1	9.999201e-01	18	54	0	88	2		0	0	0	0	0	2	1	1	72	369	0	88	2								-3.330741	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCI	5584	broad.mit.edu	37	3	170002313	170002313	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170002313G>A	ENST00000295797.4	+	12	1437	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota			36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)	Tamoxifen(DB00675)	AATTTATAGAGATTTGAAACT	0.308000																								0							SO:0001583	missense			ENST00000295797.4	1	1	hg19	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	33	5.260702	0.95368	.	.	ENSG00000163558	ENST00000295797	D	0.92965	-3.14	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96915	0.9670	9	.	.	.	.	19.4109	0.94671	0.0:0.0:1.0:0.0	.	378	P41743	KPCI_HUMAN	N	378	ENSP00000295797:D378N	.	D	+	1	0	PRKCI	171485007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.368000	0.97152	2.642000	0.89623	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	1	0	1	14	252	0	67	1	8.399190e-01	6	56	0	67	2		0	0	0	0	0	2	1	9.997644e-01	14	250	0	67	2								-3.149666	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.640000	0.360000	1.000000	1.000000	0.668113	0.640000	0	4.900000e-01	8.500000e-01
PRKCI	5584	broad.mit.edu	37	3	170009678	170009678	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170009678T>C	ENST00000295797.4	+	13	1545	c.1240T>C	c.(1240-1242)Tgt>Cgt	p.C414R		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota			36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)	Tamoxifen(DB00675)	CAGCACTTTCTGTGGTACTCC	0.333000																								0							SO:0001583	missense			ENST00000295797.4	1	1	hg19	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157508	0.78114	.	.	ENSG00000163558	ENST00000295797	T	0.66638	-0.22	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86293	0.1675	9	.	.	.	.	15.3646	0.74510	0.0:0.0:0.0:1.0	.	414	P41743	KPCI_HUMAN	R	414	ENSP00000295797:C414R	.	C	+	1	0	PRKCI	171492372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.078000	0.62432	0.482000	0.46254	TGT		TCGA-IB-7651-01A-11D-2154-08	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	1	0	1	40	164	0	59	1	9.999471e-01	18	47	0	59	2		0	0	0	0	0	2	1	1	37	159	0	60	2								-19.999960	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SKIL	6498	broad.mit.edu	37	3	170108126	170108126	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170108126G>A	ENST00000458537.3	+	4	2254	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SKIL_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000426052.2_Silent_p.P495P|SKIL_ENST00000413427.2_Silent_p.P469P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene			25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		CTTCATCTCCGCTTCTTGTGA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000458537.3	1	1	hg19	CCDS33890.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	0	0	0	19	484	0	62	1	9.300460e-01	4	113	0	62	2		0	0	0	0	0	2	1	9.999897e-01	19	477	0	61	2								-3.733883	1	1	121412	9	44	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.450000	0.280000	1.000000	0.440000	0.494178	0.450000	0	3.600000e-01	5.900000e-01
PLCL2	23228	broad.mit.edu	37	3	17052328	17052328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17052328G>A	ENST00000418129.2	+	2	1577	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2			43					ATAGTTTTCCGCAGTGTCATT	0.398000																								0							SO:0001583	missense			ENST00000418129.2	1	1	hg19	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702685|2.702685	0.48307|0.48307	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.66280	.|-0.2;-0.2;-0.2	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.047783	.|0.85682	.|D	.|0.000000	T|T	0.60287|0.60287	0.2257|0.2257	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.38455	.|0.632	.|B	.|0.34779	.|0.189	T|T	0.63629|0.63629	-0.6594|-0.6594	4|9	.|0.66056	.|D	.|0.02	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|497	.|Q9UPR0	.|PLCL2_HUMAN	T|H	115|371;498;371;371	.|ENSP00000409637:R371H;ENSP00000379979:R371H;ENSP00000412836:R371H	.|ENSP00000285094:R498H	A|R	+|+	1|2	0|0	PLCL2|PLCL2	17027332|17027332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	8.062000|8.062000	0.89475|0.89475	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3	1	0	1	70	322	0	74	0	9.683113e-01	1	27	0	74	2		0	0	0	0	0	2	1	1	70	320	0	74	2								-3.148037	1	1	121412	1	21	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL22L1	200916	broad.mit.edu	37	3	170585924	170585924	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170585924C>A	ENST00000295830.8	-	3	418		c.e3-1		RPL22L1_ENST00000463836.1_Splice_Site	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1			4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		GAAATTGCTCCTATTTTAAAA	0.358000																								0							SO:0001630	splice_region_variant			ENST00000295830.8	0	1	hg19	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494590	0.85069	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPL22L1	172068618	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	0	0	1	5	45	0	13	1	9.990777e-01	92	66	0	13	2		0	0	0	0	0	2	1	9.409145e-01	5	45	0	13	2								-5.526893	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.480000	1.000000	1.000000	0.922877	0.990000	1	7.800000e-01	1
TNIK	23043	broad.mit.edu	37	3	170857333	170857333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170857333G>A	ENST00000436636.2	-	14	1689	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase			62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		TCTAACTGTCGCCTGATGTAT	0.468000																								0							SO:0001587	stop_gained			ENST00000436636.2	0	1	hg19	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	42	9.242205	0.99111	.	.	ENSG00000154310	ENST00000436636;ENST00000538048;ENST00000284483;ENST00000460047;ENST00000488470	.	.	.	5.63	4.72	0.59763	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.972	0.80027	0.0:0.0:0.8648:0.1352	.	.	.	.	X	449	.	ENSP00000284483:R449X	R	-	1	2	TNIK	172340027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.035000	0.64158	2.648000	0.89879	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	1	0	1	128	503	0	79	0	4.178689e-02	0	2	0	79	2		0	0	0	0	0	2	1	1	119	487	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNIK	23043	broad.mit.edu	37	3	170858289	170858289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170858289G>A	ENST00000436636.2	-	13	1575	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase			62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		TCCTTCTCTCGCCTTTGTTGC	0.622000																								0							SO:0001587	stop_gained			ENST00000436636.2	0	1	hg19	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142123	0.77775	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	5.55	1.01	0.19927	.	0.062787	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2317	0.43258	0.0:0.0959:0.3853:0.5188	.	.	.	.	X	411	.	ENSP00000284483:R411X	R	-	1	2	TNIK	172340983	0.996000	0.38824	0.942000	0.38095	0.233000	0.25261	1.042000	0.30303	0.243000	0.21327	-0.182000	0.12963	CGA		TCGA-IB-7651-01A-11D-2154-08	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	0	0	0	60	706	1	131	0	8.128012e-01	0	71	1	131	4		0	0	0	0	0	2	1	9.999995e-01	60	697	1	131	19								-3.318794	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.930000	0.710000	1.000000	1.000000	0.918040	0.930000	1	8.100000e-01	1
TNIK	23043	broad.mit.edu	37	3	170928948	170928948	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170928948G>T	ENST00000436636.2	-	4	607	c.263C>A	c.(262-264)gCt>gAt	p.A88D	TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D|TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase			62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		TTTGATAAAAGCACCATAGTA	0.353000																								0							SO:0001583	missense			ENST00000436636.2	1	1	hg19	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314813	0.95655	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.66560	2.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.991;0.997;0.998;0.992;0.997;0.997;0.998;0.998	T	0.81854	-0.0741	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	88;88;88;88;88;88;88;88	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	D	88;88;88;88;88;88;88;88;88;88;62	ENSP00000399511:A88D;ENSP00000358332:A88D;ENSP00000443278:A88D;ENSP00000345352:A88D;ENSP00000284483:A88D;ENSP00000418156:A88D;ENSP00000349880:A88D;ENSP00000418916:A88D;ENSP00000418378:A88D;ENSP00000419990:A88D;ENSP00000417338:A62D	ENSP00000284483:A88D	A	-	2	0	TNIK	172411642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	1	0	1	45	204	0	39	1	9.922888e-01	16	21	0	39	2		0	0	0	0	0	2	1	1	45	201	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D5	9779	broad.mit.edu	37	3	17208310	17208310	+	Silent	SNP	G	G	T	rs143757025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17208310G>T	ENST00000253692.7	-	21	3707	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G	TBC1D5_ENST00000446818.2_Silent_p.G703G|TBC1D5_ENST00000429383.4_Silent_p.G681G|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5			36					CTCGGCCCTGGCCCTGGCCGC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000253692.7	1	1	hg19	CCDS33714.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	1	0	1	65	316	0	61	1	9.999264e-01	16	54	0	61	2		0	0	0	0	0	2	1	1	64	314	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCEH1	57552	broad.mit.edu	37	3	172351691	172351691	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172351691G>A	ENST00000475381.1	-	5	1034	c.801C>T	c.(799-801)atC>atT	p.I267I	NCEH1_ENST00000273512.3_Silent_p.I299I|NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1			15					GATTGTTAACGATCATTGCCT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000475381.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	0.019	-1.457690	0.01071	.	.	ENSG00000144959	ENST00000424772	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.30940	N	0.725957	.	.	.	.	.	.	T	0.15093	-1.0449	4	.	.	.	-6.8028	4.8734	0.13644	0.2386:0.2399:0.4538:0.0677	.	.	.	.	L	298	.	.	S	-	2	0	NCEH1	173834385	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.984000	0.01487	-4.969000	0.00025	-2.032000	0.00423	TCG		TCGA-IB-7651-01A-11D-2154-08	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	1	0	0	17	318	0	50	1	9.831855e-01	11	116	0	50	2		0	0	0	0	0	2	1	9.999648e-01	17	314	0	50	2								-3.073168	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.610000	0.370000	1.000000	0.590000	0.643638	0.610000	0	4.800000e-01	8.000000e-01
NCEH1	57552	broad.mit.edu	37	3	172365723	172365723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365723C>T	ENST00000475381.1	-	2	553	c.320G>A	c.(319-321)cGc>cAc	p.R107H	NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1			15					AACGACGCTGCGTTTCAGTGG	0.562000																								0							SO:0001583	missense			ENST00000475381.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.353719|3.353719	0.61293|0.61293	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512	.|T;T;T	.|0.58940	.|0.3;0.3;0.3	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.098474	.|0.64402	.|D	.|0.000003	T|T	0.73946|0.73946	0.3652|0.3652	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.68483	.|0.958;0.819	T|T	0.76170|0.76170	-0.3057|-0.3057	5|10	.|0.87932	.|D	.|0	-21.2305|-21.2305	13.348|13.348	0.60584|0.60584	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|139;107	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	T|H	130|107;139;139	.|ENSP00000418571:R107H;ENSP00000442464:R139H;ENSP00000273512:R139H	.|ENSP00000273512:R139H	A|R	-|-	1|2	0|0	NCEH1|NCEH1	173848417|173848417	1.000000|1.000000	0.71417|0.71417	0.856000|0.856000	0.33681|0.33681	0.020000|0.020000	0.10135|0.10135	4.529000|4.529000	0.60588|0.60588	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	1	0	1	62	258	0	52	1	1	68	126	0	52	2		0	0	0	0	0	2	1	1	62	251	0	50	2								-20.000000	1	0	121412	1	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCEH1	57552	broad.mit.edu	37	3	172365759	172365759	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365759A>C	ENST00000475381.1	-	2	517	c.284T>G	c.(283-285)tTt>tGt	p.F95C	NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1			15					AGGGCCTTCAAACACTCTGAC	0.517000																								0							SO:0001583	missense			ENST00000475381.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.12|18.12	3.553240|3.553240	0.65425|0.65425	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512|ENST00000424772	T;T;T|.	0.61158|.	0.13;0.13;0.13|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.095705|.	0.64402|.	D|.	0.000001|.	T|T	0.71953|0.71953	0.3401|0.3401	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.942|.	T|T	0.72364|0.72364	-0.4316|-0.4316	10|5	0.87932|.	D|.	0|.	-23.8409|-23.8409	12.1056|12.1056	0.53810|0.53810	0.8715:0.0:0.0:0.1285|0.8715:0.0:0.0:0.1285	.|.	127;95|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	C|V	95;127;127|118	ENSP00000418571:F95C;ENSP00000442464:F127C;ENSP00000273512:F127C|.	ENSP00000273512:F127C|.	F|L	-|-	2|1	0|2	NCEH1|NCEH1	173848453|173848453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.566000|0.566000	0.35808|0.35808	5.542000|5.542000	0.67218|0.67218	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TTT|TTG		TCGA-IB-7651-01A-11D-2154-08	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	0	0	1	54	286	1	66	1	9.995767e-01	46	115	1	66	10		0	0	0	0	0	2	1	9.999989e-01	54	276	1	66	17								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECT2	1894	broad.mit.edu	37	3	172504322	172504322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172504322G>A	ENST00000392692.3	+	18	2041	c.1865G>A	c.(1864-1866)aGc>aAc	p.S622N	ECT2_ENST00000417960.1_Missense_Mutation_p.S590N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N|ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000540509.1_Missense_Mutation_p.S622N	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2			37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		CCAGACAAAAGCACTTTAGAA	0.308000																								0							SO:0001583	missense			ENST00000392692.3	1	1	hg19	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268507	0.23136	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.95	0.592	0.17471	Dbl homology (DH) domain (2);	0.292888	0.43110	N	0.000613	T	0.33789	0.0875	N	0.17345	0.48	0.27977	N	0.936193	B;B;B;B;B	0.11235	0.0;0.001;0.002;0.004;0.001	B;B;B;B;B	0.10450	0.002;0.003;0.005;0.005;0.003	T	0.03818	-1.1001	10	0.19147	T	0.46	-3.4038	0.7728	0.01027	0.3007:0.1087:0.3432:0.2474	.	622;67;622;591;590	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	N	591;622;591;590;591;622	ENSP00000232458:S591N;ENSP00000376457:S622N;ENSP00000401910:S591N;ENSP00000415876:S590N;ENSP00000412259:S591N;ENSP00000443160:S622N	ENSP00000232458:S591N	S	+	2	0	ECT2	173987016	0.832000	0.29368	1.000000	0.80357	0.992000	0.81027	0.481000	0.22260	0.432000	0.26286	-0.145000	0.13849	AGC		TCGA-IB-7651-01A-11D-2154-08	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	1	0	1	21	119	0	42	1	9.998387e-01	38	47	0	42	2		0	0	0	0	0	2	1	9.999985e-01	21	118	0	42	2								-12.743060	1	1	121386	3	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999542	0.990000	1	9.900000e-01	1
ECT2	1894	broad.mit.edu	37	3	172523587	172523587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172523587G>A	ENST00000392692.3	+	21	2349	c.2173G>A	c.(2173-2175)Gct>Act	p.A725T	ECT2_ENST00000417960.1_Missense_Mutation_p.A693T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T|ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000540509.1_Missense_Mutation_p.A725T	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2			37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		CCGACCCCCAGCTTCTCTTAA	0.403000																								0							SO:0001583	missense			ENST00000392692.3	1	1	hg19	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695041|3.695041	0.68386|0.68386	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54;1.54;1.54|.	6.06|6.06	4.28|4.28	0.50868|0.50868	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.145083|.	0.64402|.	D|.	0.000008|.	T|T	0.59649|0.59649	0.2209|0.2209	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	B;B;P;B;B|.	0.36412|.	0.381;0.027;0.552;0.397;0.214|.	B;B;B;B;B|.	0.43990|.	0.103;0.012;0.438;0.199;0.113|.	T|T	0.55270|0.55270	-0.8167|-0.8167	10|5	0.20519|.	T|.	0.43|.	-11.4381|-11.4381	13.062|13.062	0.59012|0.59012	0.0:0.1294:0.747:0.1236|0.0:0.1294:0.747:0.1236	.|.	725;170;725;694;693|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	T|N	694;725;694;693;694;725|64	ENSP00000232458:A694T;ENSP00000376457:A725T;ENSP00000401910:A694T;ENSP00000415876:A693T;ENSP00000412259:A694T;ENSP00000443160:A725T|.	ENSP00000232458:A694T|.	A|S	+|+	1|2	0|0	ECT2|ECT2	174006281|174006281	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	3.275000|3.275000	0.51639|0.51639	0.888000|0.888000	0.36160|0.36160	0.650000|0.650000	0.86243|0.86243	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	1	0	1	46	196	0	57	1	1	48	72	0	57	2		0	0	0	0	0	2	1	1	44	194	0	57	2								-3.521937	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLGN1	22871	broad.mit.edu	37	3	173996663	173996663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996663G>A	ENST00000457714.1	+	6	1301	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1			83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		CTTTTTCAACGAGCAATAGCT	0.358000																								0							SO:0001583	missense			ENST00000457714.1	1	1	hg19	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751325	0.89753	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71698	0.01;0.01;-0.59;0.01;0.01	5.59	5.59	0.84812	.	0.059259	0.64402	D	0.000004	D	0.84786	0.5549	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.69479	0.955;0.964	D	0.85471	0.1173	10	0.66056	D	0.02	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	331;291	D2X2H5;Q8N2Q7-2	.;.	Q	291;291;331;291;331	ENSP00000392500:R291Q;ENSP00000354541:R291Q;ENSP00000410374:R331Q;ENSP00000441108:R291Q;ENSP00000385750:R331Q	ENSP00000354541:R291Q	R	+	2	0	NLGN1	175479357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	1	43	236	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1	43	235	0	50	2								-2.933218	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NLGN1	22871	broad.mit.edu	37	3	173996999	173996999	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996999A>G	ENST00000457714.1	+	6	1637	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G	NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G|NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1			83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		GTAGATAGCGATGATGGTATA	0.333000																								0							SO:0001583	missense			ENST00000457714.1	1	1	hg19	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811455	0.50527	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.62	5.62	0.85841	.	0.106713	0.64402	D	0.000006	T	0.55784	0.1942	N	0.21545	0.675	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.54111	-0.8342	10	0.72032	D	0.01	.	15.837	0.78805	1.0:0.0:0.0:0.0	.	443;403	D2X2H5;Q8N2Q7-2	.;.	G	403;403;403;443	ENSP00000392500:D403G;ENSP00000354541:D403G;ENSP00000441108:D403G;ENSP00000385750:D443G	ENSP00000354541:D403G	D	+	2	0	NLGN1	175479693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.140000	0.66376	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	1	87	400	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	86	393	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLGN1	22871	broad.mit.edu	37	3	173997160	173997160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173997160C>A	ENST00000457714.1	+	6	1798	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M|NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1			83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		AAAGACATTACTGGCTTTGTT	0.448000																								0							SO:0001583	missense			ENST00000457714.1	1	1	hg19	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568022	0.28003	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.89	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.58977	0.2160	L	0.28458	0.855	0.52501	D	0.99995	P;P	0.36712	0.566;0.516	B;B	0.44163	0.403;0.443	T	0.53012	-0.8498	10	0.44086	T	0.13	.	9.8156	0.40851	0.0:0.2601:0.0:0.7399	.	497;457	D2X2H5;Q8N2Q7-2	.;.	M	457;457;457;497	ENSP00000392500:L457M;ENSP00000354541:L457M;ENSP00000441108:L457M;ENSP00000385750:L497M	ENSP00000354541:L457M	L	+	1	2	NLGN1	175479854	0.479000	0.25925	0.985000	0.45067	0.984000	0.73092	0.071000	0.14594	0.164000	0.19529	-0.360000	0.07572	CTG		TCGA-IB-7651-01A-11D-2154-08	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	1	90	399	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	1	90	391	0	97	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLGN1	22871	broad.mit.edu	37	3	173998885	173998885	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173998885G>A	ENST00000457714.1	+	7	2693	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	p.R755Q(1)		83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		GTGGTTCTTCGGACCGCCTGT	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000457714.1	1	1	hg19	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583377	0.96578	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70399	-0.47;-0.47;-0.47;-0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84492	0.5484	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.85217	0.1024	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	755	Q8N2Q7-2	.	Q	755;755;755;795	ENSP00000392500:R755Q;ENSP00000354541:R755Q;ENSP00000441108:R755Q;ENSP00000385750:R795Q	ENSP00000354541:R755Q	R	+	2	0	NLGN1	175481579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.009000	0.88606	2.793000	0.96121	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	1	0	1	71	323	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	71	317	0	80	2								-2.889431	1	1	121412	2	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D5	9779	broad.mit.edu	37	3	17418045	17418045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17418045G>T	ENST00000253692.7	-	10	2337	c.673C>A	c.(673-675)Cta>Ata	p.L225I	TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5			36					CTGGCATGTAGAAAAGCTTGG	0.413000																								0							SO:0001583	missense			ENST00000253692.7	1	1	hg19	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269862	0.40095	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.44482	1.48;1.48;1.48;0.92	4.97	4.08	0.47627	Rab-GAP/TBC domain (4);	0.221938	0.39834	N	0.001255	T	0.36110	0.0955	L	0.29908	0.895	0.33777	D	0.62378	B;P;B	0.37688	0.038;0.605;0.237	B;P;B	0.48334	0.071;0.574;0.292	T	0.47674	-0.9099	10	0.37606	T	0.19	-11.6177	4.6907	0.12780	0.3169:0.0:0.6831:0.0	.	177;225;225	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	I	225;225;225;177	ENSP00000253692:L225I;ENSP00000398127:L225I;ENSP00000402935:L225I;ENSP00000411925:L177I	ENSP00000253692:L225I	L	-	1	2	TBC1D5	17393049	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.804000	0.62554	2.319000	0.78375	0.585000	0.79938	CTA		TCGA-IB-7651-01A-11D-2154-08	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	0	0	1	66	347	1	81	1	9.883837e-01	14	66	1	81	6		0	0	0	0	0	2	1	1	65	340	1	81	17								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAALADL2	254827	broad.mit.edu	37	3	174814871	174814871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:174814871G>A	ENST00000454872.1	+	2	463	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2			49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)		CATTATACACGATCTGCACCA	0.378000																								0							SO:0001583	missense			ENST00000454872.1	1	1	hg19	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357573	0.61293	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.49720	0.77;1.26	5.72	5.72	0.89469	.	0.127766	0.34156	N	0.004212	T	0.55242	0.1908	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.92	T	0.51148	-0.8742	10	0.59425	D	0.04	-24.494	13.4601	0.61223	0.0716:0.0:0.9284:0.0	.	95;112	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	Q	95;112	ENSP00000409858:R95Q;ENSP00000404705:R112Q	ENSP00000409858:R95Q	R	+	2	0	NAALADL2	176297565	0.996000	0.38824	0.971000	0.41717	0.897000	0.52465	5.814000	0.69208	2.850000	0.98022	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	1	0	1	92	343	0	94	0	6.587151e-01	1	9	0	94	2		0	0	0	0	0	2	1	1	90	340	0	93	2								-3.805996	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAALADL2	254827	broad.mit.edu	37	3	175165072	175165072	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:175165072C>A	ENST00000454872.1	+	6	1274	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2			49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)		TGCAGCCCATCTCTGCACCCC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000454872.1	1	1	hg19	CCDS46960.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	1	0	1	9	52	0	23	0	4.235835e-01	0	9	0	23	2		0	0	0	0	0	2	1	9.950406e-01	9	51	0	23	2								-16.764550	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.850000	1.000000	1.000000	0.991491	0.990000	1	9.900000e-01	1
ZMAT3	64393	broad.mit.edu	37	3	178748762	178748762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178748762C>T	ENST00000311417.2	-	3	1037	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3			14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		ATAGTAATTTCGGAGTTTCTT	0.438000																								0							SO:0001583	missense			ENST00000311417.2	1	1	hg19	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598322	0.96614	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.47177	0.85;0.85;0.85	5.47	5.47	0.80525	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.963;0.988	T	0.62048	-0.6936	10	0.56958	D	0.05	-13.3478	19.3366	0.94322	0.0:1.0:0.0:0.0	.	99;99	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	Q	99	ENSP00000311221:R99Q;ENSP00000396506:R99Q;ENSP00000398920:R99Q	ENSP00000311221:R99Q	R	-	2	0	ZMAT3	180231456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.773000	0.62331	2.551000	0.86045	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	1	0	1	63	330	0	71	1	9.998881e-01	8	64	0	71	2		0	0	0	0	0	2	1	1	63	322	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMAT3	64393	broad.mit.edu	37	3	178785445	178785445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785445C>A	ENST00000311417.2	-	2	837	c.96G>T	c.(94-96)caG>caT	p.Q32H	ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3			14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		GTGGTGGAAGCTGCAAGGTTC	0.582000																								0							SO:0001583	missense			ENST00000311417.2	1	1	hg19	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623280	0.46840	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.48201	0.93;0.92;0.82	5.86	4.99	0.66335	.	0.693387	0.14830	N	0.295886	T	0.30885	0.0779	N	0.14661	0.345	0.37288	D	0.908141	P;P	0.42649	0.786;0.681	B;B	0.40066	0.318;0.169	T	0.16630	-1.0396	10	0.32370	T	0.25	-19.4788	9.7286	0.40348	0.0:0.8038:0.0:0.1962	.	32;32	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	H	32	ENSP00000311221:Q32H;ENSP00000396506:Q32H;ENSP00000398920:Q32H	ENSP00000311221:Q32H	Q	-	3	2	ZMAT3	180268139	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.452000	0.35156	1.481000	0.48307	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	1	0	1	125	538	0	109	1	9.999992e-01	15	71	0	109	2		0	0	0	0	0	2	1	1	120	522	0	108	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMAT3	64393	broad.mit.edu	37	3	178785487	178785487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785487C>T	ENST00000311417.2	-	2	795	c.54G>A	c.(52-54)tcG>tcA	p.S18S	ZMAT3_ENST00000432729.1_Silent_p.S18S	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3	p.S18S(1)		14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		ACATAGGAGGCGAGGGTGAGG	0.572000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000311417.2	1	1	hg19	CCDS3224.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	1	0	1	148	606	0	146	1	9.999870e-01	10	57	0	146	2		0	0	0	0	0	2	1	1	147	589	0	146	2								-20.000000	1	0	121412	2	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF639	51193	broad.mit.edu	37	3	179051598	179051598	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179051598C>T	ENST00000326361.3	+	7	1291	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF639_ENST00000496856.1_Silent_p.T282T|ZNF639_ENST00000484866.1_Silent_p.T282T	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639			16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		TTGCAGACACCCATTTTAGTG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000326361.3	1	1	hg19	CCDS3227.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	1	0	1	74	421	0	98	1	9.999976e-01	18	89	0	98	2		0	0	0	0	0	2	1	1	74	414	0	98	2								-2.807835	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFN1	55669	broad.mit.edu	37	3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000263969.5_Missense_Mutation_p.A79T|MFN1_ENST00000280653.7_Missense_Mutation_p.A79T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1			31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		CATGAAGGTGGCATTTTTTGG	0.378000																								0							SO:0001583	missense			ENST00000471841.1	1	1	hg19	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095365	0.76870	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.101398	0.64402	D	0.000003	D	0.98324	0.9444	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.70227	0.968;0.938	D	0.98423	1.0578	10	0.46703	T	0.11	-9.1443	19.0061	0.92851	0.0:0.0:1.0:0.0	.	107;79	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	T	79	ENSP00000420617:A79T;ENSP00000280653:A79T;ENSP00000419134:A79T;ENSP00000263969:A79T	ENSP00000263969:A79T	A	+	1	0	MFN1	180552504	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.366000	0.97143	2.571000	0.86741	0.467000	0.42956	GCA		TCGA-IB-7651-01A-11D-2154-08	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	1	0	1	140	704	0	154	1	1	49	81	0	154	2		0	0	0	0	0	2	1	1	135	690	0	152	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFN1	55669	broad.mit.edu	37	3	179076722	179076722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076722G>A	ENST00000471841.1	+	4	469	c.343G>A	c.(343-345)Gtt>Att	p.V115I	MFN1_ENST00000263969.5_Missense_Mutation_p.V115I|MFN1_ENST00000280653.7_Missense_Mutation_p.V115I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1			31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		CTTCCTAAGTGTTGAAGGAAC	0.388000																								0							SO:0001583	missense			ENST00000471841.1	1	1	hg19	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518764	0.85495	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.86	5.86	0.93980	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97801	0.9278	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.87578	0.962;0.998	D	0.96458	0.9339	10	0.31617	T	0.26	-21.6062	20.5632	0.99335	0.0:0.0:1.0:0.0	.	143;115	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	I	115	ENSP00000420617:V115I;ENSP00000280653:V115I;ENSP00000419134:V115I;ENSP00000263969:V115I	ENSP00000263969:V115I	V	+	1	0	MFN1	180559416	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	1	0	1	75	324	0	77	1	9.999970e-01	28	54	0	77	2		0	0	0	0	0	2	1	1	75	317	0	76	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFN1	55669	broad.mit.edu	37	3	179076766	179076766	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076766A>G	ENST00000471841.1	+	4	513	c.387A>G	c.(385-387)ggA>ggG	p.G129G	MFN1_ENST00000263969.5_Silent_p.G129G|MFN1_ENST00000280653.7_Silent_p.G129G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1			31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		TGACAGAAGGATCAGATGAAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000471841.1	1	1	hg19	CCDS3228.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	1	0	1	65	270	0	53	1	9.999997e-01	33	62	0	53	2		0	0	0	0	0	2	1	1	63	267	0	52	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNB4	59345	broad.mit.edu	37	3	179123034	179123034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179123034G>A	ENST00000232564.3	-	9	1146	c.860C>T	c.(859-861)gCt>gTt	p.A287V	RP11-145M9.5_ENST00000608131.1_RNA|GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4			16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		ATCGTAACCAGCCAACAAGAG	0.403000													Melanoma(105;1405 1491 7265 20440 33721)											0							SO:0001583	missense			ENST00000232564.3	1	1	hg19	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497553	0.96355	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.59906	0.23;0.23	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.094329	0.64402	N	0.000001	T	0.75686	0.3883	M	0.85041	2.73	0.80722	D	1	D	0.58620	0.983	P	0.55545	0.778	T	0.79722	-0.1684	10	0.66056	D	0.02	-28.153	19.5074	0.95125	0.0:0.0:1.0:0.0	.	287	Q9HAV0	GBB4_HUMAN	V	287	ENSP00000232564:A287V;ENSP00000419693:A287V	ENSP00000232564:A287V	A	-	2	0	GNB4	180605728	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	9.721000	0.98766	2.678000	0.91216	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	1	0	1	82	385	0	75	0	9.999998e-01	1	104	0	75	2		0	0	0	0	0	2	1	1	81	377	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL47	57129	broad.mit.edu	37	3	179316509	179316509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179316509G>A	ENST00000476781.1	-	4	385	c.356C>T	c.(355-357)gCc>gTc	p.A119V	MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V|MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47			11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		CTGCCGCTTGGCCTCCTGCTC	0.428000																								0							SO:0001583	missense			ENST00000476781.1	1	1	hg19	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257331	0.95368	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.46451	1.39;1.41;0.87	6.17	6.17	0.99709	.	0.178216	0.48286	D	0.000191	T	0.63873	0.2548	M	0.66439	2.03	0.44562	D	0.997529	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	T	0.52185	-0.8609	10	0.20046	T	0.44	-12.1073	20.4745	0.99168	0.0:0.0:1.0:0.0	.	99;119	Q9HD33-2;Q9HD33	.;RM47_HUMAN	V	119;99;9	ENSP00000417602:A119V;ENSP00000259038:A99V;ENSP00000376427:A9V	ENSP00000259038:A99V	A	-	2	0	MRPL47	180799203	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.610000	0.82949	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	1	0	1	86	349	0	87	1	1	80	228	0	87	2		0	0	0	0	0	2	1	1	85	336	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL47	57129	broad.mit.edu	37	3	179320442	179320442	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179320442G>T	ENST00000476781.1	-	2	271	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	NDUFB5_ENST00000493866.1_5'Flank|MRPL47_ENST00000392659.2_Intron|NDUFB5_ENST00000259037.3_5'Flank|NDUFB5_ENST00000472629.1_5'Flank|MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47			11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		TATCTCACCAGATTTTACTTT	0.398000																								0							SO:0001583	missense			ENST00000476781.1	1	1	hg19	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872083	0.72180	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.33865	1.39;1.42	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.41415	1.275	0.80722	D	1	D;D	0.61080	0.966;0.989	P;D	0.69307	0.831;0.963	T	0.22730	-1.0208	10	0.02654	T	1	-23.0982	17.9188	0.88960	0.0:0.0:1.0:0.0	.	61;81	Q9HD33-2;Q9HD33	.;RM47_HUMAN	Y	81;61	ENSP00000417602:S81Y;ENSP00000259038:S61Y	ENSP00000259038:S61Y	S	-	2	0	MRPL47	180803136	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.879000	0.75572	2.511000	0.84671	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	1	0	0	71	281	0	50	1	1	117	259	0	50	2		0	0	0	0	0	2	1	1	70	267	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFB5	4711	broad.mit.edu	37	3	179336307	179336307	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179336307A>G	ENST00000259037.3	+	5	561	c.447A>G	c.(445-447)ttA>ttG	p.L149L	NDUFB5_ENST00000493866.1_Silent_p.L97L|NDUFB5_ENST00000472629.1_Silent_p.L137L|NDUFB5_ENST00000473500.1_3'UTR	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa			8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		AGGCTGAATTACGGTAGGAAA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000259037.3	1	1	hg19	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557860	0.45590	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.97	4.84	0.62591	.	.	.	.	.	T	0.54159	0.1841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53711	-0.8400	4	.	.	.	-13.992	5.3624	0.16095	0.7091:0.1802:0.1107:0.0	.	.	.	.	C	166	.	.	Y	+	2	0	NDUFB5	180819001	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.831000	0.39141	2.284000	0.76573	0.523000	0.50628	TAC		TCGA-IB-7651-01A-11D-2154-08	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	1	0	1	29	130	0	45	1	1	169	440	0	45	2		0	0	0	0	0	2	1	1	29	123	0	45	2								-18.123050	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
USP13	8975	broad.mit.edu	37	3	179481862	179481862	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179481862C>A	ENST00000263966.3	+	18	2636	c.2165C>A	c.(2164-2166)tCt>tAt	p.S722Y	USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)			46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		TTTGGTGCTTCTGGACTGGAT	0.502000																								0							SO:0001583	missense			ENST00000263966.3	1	1	hg19	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455376	0.63401	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.16196	2.36;2.36	5.87	3.86	0.44501	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);UBA-like (1);	0.417256	0.28488	N	0.015161	T	0.10508	0.0257	N	0.14661	0.345	0.27348	N	0.95632	P	0.35527	0.507	B	0.40038	0.317	T	0.09818	-1.0657	10	0.62326	D	0.03	-3.585	4.3932	0.11350	0.1825:0.5773:0.0:0.2402	.	722	Q92995	UBP13_HUMAN	Y	722;657	ENSP00000263966:S722Y;ENSP00000417146:S657Y	ENSP00000263966:S722Y	S	+	2	0	USP13	180964556	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	0.965000	0.29319	1.495000	0.48549	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1	1	0	1	79	348	0	67	1	3.854055e-01	2	5	0	67	2		0	0	0	0	0	2	1	1	75	337	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP13	8975	broad.mit.edu	37	3	179499528	179499528	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179499528A>G	ENST00000263966.3	+	20	2886	c.2415A>G	c.(2413-2415)acA>acG	p.T805T	USP13_ENST00000496897.1_Splice_Site_p.T740T	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)			46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		CTTTCACAGCATATGAGCTAT	0.378000																								0							SO:0001630	splice_region_variant			ENST00000263966.3	1	0	hg19	CCDS3235.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1	1	0	1	57	252	0	56	1	4.549297e-01	2	6	0	56	2		0	0	0	0	0	2	1	1	56	247	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX5L	51555	broad.mit.edu	37	3	179525504	179525504	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179525504C>A	ENST00000467460.1	-	14	1964	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like			49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		TAGGTTGTATCTGGACCGGAT	0.577000																								0							SO:0001583	missense			ENST00000467460.1	1	1	hg19	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371430	0.95923	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.997;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.94;0.913;0.964	T	0.77429	-0.2591	10	0.87932	D	0	-21.9465	20.6525	0.99598	0.0:1.0:0.0:0.0	.	486;521;437;543;510;545	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	I	545;543;510;543;437;353;502;433;486;437;521	ENSP00000419975:R545I;ENSP00000263962:R543I;ENSP00000418440:R510I;ENSP00000376420:R437I;ENSP00000418665:R353I;ENSP00000420555:R502I;ENSP00000418054:R486I;ENSP00000417270:R437I;ENSP00000419348:R521I	ENSP00000263962:R543I	R	-	2	0	PEX5L	181008198	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	AGA		TCGA-IB-7651-01A-11D-2154-08	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	1	0	1	231	896	0	196		0	0	0	0	196	2		0	0	0	0	0	2	1	1	230	882	0	196	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX5L	51555	broad.mit.edu	37	3	179576866	179576866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179576866G>A	ENST00000467460.1	-	8	1136	c.806C>T	c.(805-807)gCa>gTa	p.A269V	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like			49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		TGCTGCTTTTGCCCTTTCAAA	0.393000																								0							SO:0001583	missense			ENST00000467460.1	1	1	hg19	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875930	0.91664	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.46;-2.4;-2.44;-2.47;-2.47;-2.4;-2.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	L	0.57536	1.79	0.80722	D	1	D;D;P;D;D;D	0.89917	0.993;0.999;0.884;1.0;0.999;0.999	D;D;P;D;D;D	0.85130	0.968;0.986;0.54;0.997;0.996;0.994	D	0.92940	0.6371	10	0.51188	T	0.08	-17.3417	18.8213	0.92099	0.0:0.0:1.0:0.0	.	210;245;161;267;234;269	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	269;267;234;267;161;77;226;157;210;161;245	ENSP00000419975:A269V;ENSP00000263962:A267V;ENSP00000418440:A234V;ENSP00000376420:A161V;ENSP00000418665:A77V;ENSP00000420555:A226V;ENSP00000418054:A210V;ENSP00000417270:A161V;ENSP00000419348:A245V	ENSP00000263962:A267V	A	-	2	0	PEX5L	181059560	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.049000	0.89443	2.754000	0.94517	0.558000	0.71614	GCA		TCGA-IB-7651-01A-11D-2154-08	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	1	0	1	37	241	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	36	237	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999834	0.990000	1	9.900000e-01	1
PEX5L	51555	broad.mit.edu	37	3	179592146	179592146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179592146G>A	ENST00000467460.1	-	7	1025	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L_ENST00000467440.2_5'UTR|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like			49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		CAATTCTGAAGCCGACTCAGA	0.393000																								0							SO:0001583	missense			ENST00000467460.1	1	1	hg19	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975104	0.34848	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.26;-2.24;-2.24;-2.26;-2.27;-2.24;-2.27	5.55	4.66	0.58398	.	0.448650	0.24942	N	0.034377	T	0.74673	0.3747	N	0.08118	0	0.22081	N	0.999371	B;B;B;B;B;B	0.25904	0.049;0.02;0.0;0.082;0.137;0.02	B;B;B;B;B;B	0.21546	0.016;0.011;0.001;0.035;0.035;0.01	T	0.65100	-0.6250	10	0.39692	T	0.17	-2.5038	13.3172	0.60413	0.0744:0.0:0.9256:0.0	.	173;208;124;230;197;232	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	232;230;197;230;124;40;189;120;173;124;208;40	ENSP00000419975:A232V;ENSP00000263962:A230V;ENSP00000418440:A197V;ENSP00000376420:A124V;ENSP00000418665:A40V;ENSP00000420555:A189V;ENSP00000418054:A173V;ENSP00000417270:A124V;ENSP00000419348:A208V	ENSP00000263962:A230V	A	-	2	0	PEX5L	181074840	0.992000	0.36948	0.095000	0.20976	0.592000	0.36648	4.313000	0.59160	1.458000	0.47871	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	1	0	1	62	240	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	61	236	0	58	2								-20.000000	1	1	121412	2	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC14	151613	broad.mit.edu	37	3	180327721	180327721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180327721G>T	ENST00000296015.4	+	12	1836	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.K568N|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14			45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		AGTATGAAAAGACACAGATAA	0.388000																								0							SO:0001583	missense			ENST00000296015.4	1	1	hg19	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385450	0.11524	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.47869	0.83;0.83	5.19	1.29	0.21616	.	0.293840	0.38272	N	0.001747	T	0.26557	0.0649	N	0.16478	0.41	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.16289	0.015;0.002	T	0.03619	-1.1019	10	0.40728	T	0.16	-7.3015	6.0769	0.19921	0.296:0.0:0.5781:0.1259	.	568;568	Q96N46-2;Q96N46	.;TTC14_HUMAN	N	568	ENSP00000296015:K568N;ENSP00000372027:K568N	ENSP00000296015:K568N	K	+	3	2	TTC14	181810415	1.000000	0.71417	0.996000	0.52242	0.519000	0.34347	1.534000	0.36051	0.100000	0.17581	-0.136000	0.14681	AAG		TCGA-IB-7651-01A-11D-2154-08	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	1	0	1	198	827	0	216	1	9.999701e-01	16	47	0	216	2		0	0	0	0	0	2	1	1	197	814	0	215	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC39	339829	broad.mit.edu	37	3	180397253	180397253	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180397253C>T	ENST00000442201.2	-	0	35				CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39			45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		AGCCCAGGCACCTGCACAGTG	0.582000																								0											ENST00000442201.2	0	1	hg19	CCDS46964.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	0	0	0	61	243	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	60	241	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FXR1	8087	broad.mit.edu	37	3	180666195	180666195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666195C>T	ENST00000357559.4	+	5	715	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*|FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1			26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		CACATTTGAACGACTTCGGCC	0.338000																								0							SO:0001587	stop_gained			ENST00000357559.4	0	1	hg19	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	38	6.876758	0.97904	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	.	.	.	5.84	2.92	0.33932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4776	15.6882	0.77426	0.4626:0.5374:0.0:0.0	.	.	.	.	X	26;26;26;111;26;62;26;111;26;98;115	.	ENSP00000307633:R26X	R	+	1	2	FXR1	182148889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.668000	0.46816	0.761000	0.33130	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5	1	0	1	41	215	0	41	1	1	8	149	0	41	2		0	0	0	0	0	2	1	1	41	212	0	40	2								-19.980850	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DNAJC19	131118	broad.mit.edu	37	3	180706014	180706014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180706014T>C	ENST00000382564.2	-	2	177	c.7A>G	c.(7-9)Agt>Ggt	p.S3G	DNAJC19_ENST00000491873.1_Intron|DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19			3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		ACCACTGTACTGGCCTGGTAA	0.448000																								0							SO:0001583	missense			ENST00000382564.2	1	1	hg19	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478437	0.44044	.	.	ENSG00000205981	ENST00000382564	.	.	.	5.37	4.2	0.49525	.	0.162599	0.64402	N	0.000003	T	0.45013	0.1321	L	0.39326	1.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	9	0.32370	T	0.25	-1.0867	8.4651	0.32951	0.0:0.0942:0.0:0.9058	.	3	Q96DA6	TIM14_HUMAN	G	3	.	ENSP00000372005:S3G	S	-	1	0	DNAJC19	182188708	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.615000	0.46368	0.976000	0.38417	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	1	0	1	34	146	0	38	1	1	34	117	0	38	2		0	0	0	0	0	2	1	1	33	140	0	38	2								-19.923540	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SOX2	6657	broad.mit.edu	37	3	181430930	181430930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:181430930C>T	ENST00000325404.1	+	1	1209	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2			10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		TCCTCCCACTCCAGGGCGCCC	0.682000			A		NSCLC, oesophageal squamous carcinoma		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME								Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0							SO:0001583	missense			ENST00000325404.1	1	1	hg19	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738824	0.49045	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.85339	-1.97;-1.97	5.5	5.5	0.81552	.	0.185050	0.48767	D	0.000174	D	0.83797	0.5332	L	0.49126	1.545	0.58432	D	0.999999	P	0.41159	0.74	B	0.39738	0.308	D	0.85853	0.1405	10	0.87932	D	0	.	18.7542	0.91826	0.0:1.0:0.0:0.0	.	261	P48431	SOX2_HUMAN	F	261	ENSP00000439111:S261F;ENSP00000323588:S261F	ENSP00000323588:S261F	S	+	2	0	SOX2	182913624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.457000	0.60088	2.735000	0.93741	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	1	0	1	76	375	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	76	369	0	75	2								-3.340545	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP11B	23200	broad.mit.edu	37	3	182615133	182615133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182615133G>A	ENST00000323116.5	+	27	3351	c.3091G>A	c.(3091-3093)Gtt>Att	p.V1031I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B			41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		CAACCATCTCGTTACCTGGGG	0.303000																								0							SO:0001583	missense			ENST00000323116.5	1	1	hg19	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.145252|5.145252	0.94603|0.94603	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000491699|ENST00000323116	.|T	.|0.39406	.|1.08	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	.|D;P	.|0.76494	.|0.999;0.755	.|D;B	.|0.75020	.|0.985;0.312	T|T	0.58352|0.58352	-0.7651|-0.7651	5|10	.|0.52906	.|T	.|0.07	.|.	19.663|19.663	0.95879|0.95879	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|605;1031	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	H|I	15|1031	.|ENSP00000321195:V1031I	.|ENSP00000321195:V1031I	R|V	+|+	2|1	0|0	ATP11B|ATP11B	184097827|184097827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.348000|9.348000	0.97062|0.97062	2.648000|2.648000	0.89879|0.89879	0.655000|0.655000	0.94253|0.94253	CGT|GTT		TCGA-IB-7651-01A-11D-2154-08	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	1	0	1	175	837	0	151	1	1	38	102	0	151	2		0	0	0	0	0	2	1	1	172	824	0	151	2								-20.000000	1	1	121398	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCCC1	56922	broad.mit.edu	37	3	182755097	182755097	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182755097C>A	ENST00000265594.4	-	13	1649	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000492597.1_Missense_Mutation_p.K392N	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)			40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)	Biotin(DB00121)	TGGCTGCAGCCTTCCGACTGA	0.512000																								0							SO:0001583	missense			ENST00000265594.4	1	1	hg19	CCDS3241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.767|4.767	0.142627|0.142627	0.09083|0.09083	.|.	.|.	ENSG00000078070|ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176|ENST00000448585	D;D;D;D|.	0.95622|.	-3.76;-3.7;-3.58;-3.52|.	5.93|5.93	0.553|0.553	0.17235|0.17235	.|.	0.499217|.	0.25487|.	N|.	0.030329|.	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30584|.	0.259;0.164;0.286|.	B;B;B|.	0.27608|.	0.081;0.052;0.067|.	T|T	0.36744|0.36744	-0.9735|-0.9735	10|6	0.22109|0.51188	T|T	0.4|0.08	.|.	1.9389|1.9389	0.03342|0.03342	0.1317:0.4086:0.1216:0.3381|0.1317:0.4086:0.1216:0.3381	.|.	454;392;501|.	E9PG35;E9PHF7;Q96RQ3|.	.;.;MCCA_HUMAN|.	N|M	501;392;351;366;454|454	ENSP00000265594:K501N;ENSP00000419898:K392N;ENSP00000441253:K366N;ENSP00000420433:K454N|.	ENSP00000265594:K501N|ENSP00000407708:R454M	K|R	-|-	3|2	2|0	MCCC1|MCCC1	184237791|184237791	0.001000|0.001000	0.12720|0.12720	0.209000|0.209000	0.23619|0.23619	0.199000|0.199000	0.23934|0.23934	0.283000|0.283000	0.18846|0.18846	0.398000|0.398000	0.25338|0.25338	0.561000|0.561000	0.74099|0.74099	AAG|AGG		TCGA-IB-7651-01A-11D-2154-08	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	1	0	1	86	242	0	56	1	9.999998e-01	15	51	0	56	2		0	0	0	0	0	2	1	1	84	240	0	56	2								-5.868607	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCCC1	56922	broad.mit.edu	37	3	182810240	182810240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182810240G>A	ENST00000265594.4	-	3	376	c.230C>T	c.(229-231)gCg>gTg	p.A77V	MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)			40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)	Biotin(DB00121)	ACTATAAACCGCCACAGTCTG	0.423000																								0							SO:0001583	missense			ENST00000265594.4	1	1	hg19	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109918	0.94292	.	.	ENSG00000078070	ENST00000265594	D	0.94497	-3.44	5.86	5.86	0.93980	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98043	1.0383	10	0.87932	D	0	.	18.9487	0.92632	0.0:0.0:1.0:0.0	.	77	Q96RQ3	MCCA_HUMAN	V	77	ENSP00000265594:A77V	ENSP00000265594:A77V	A	-	2	0	MCCC1	184292934	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	9.064000	0.93933	2.778000	0.95560	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	1	0	1	78	300	0	79	1	9.931393e-01	6	26	0	79	2		0	0	0	0	0	2	1	1	78	295	0	79	2								-20.000000	1	1	121412	3	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL6	89857	broad.mit.edu	37	3	183209999	183209999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183209999G>A	ENST00000341319.3	-	7	1617	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6			44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		TAGGCGTACAGCGCTCTCATG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000341319.3	1	1	hg19	CCDS3245.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	1	0	0	36	158	0	39	0	9.999868e-01	0	80	0	39	2		0	0	0	0	0	2	1	1	36	154	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL6	89857	broad.mit.edu	37	3	183210391	183210391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183210391C>A	ENST00000341319.3	-	6	1490	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6			44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		AACACTGAGTCTTGTCTGTGG	0.542000																								0							SO:0001583	missense			ENST00000341319.3	1	1	hg19	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510440	0.44660	.	.	ENSG00000172578	ENST00000341319	T	0.79554	-1.28	4.88	2.02	0.26589	Kelch-type beta propeller (1);	0.248378	0.46145	D	0.000308	T	0.70552	0.3237	L	0.28344	0.845	0.40751	D	0.982917	P	0.40909	0.732	P	0.46585	0.521	T	0.67094	-0.5757	10	0.56958	D	0.05	.	4.2404	0.10645	0.1559:0.5404:0.0:0.3037	.	485	Q8WZ60	KLHL6_HUMAN	N	485	ENSP00000341342:K485N	ENSP00000341342:K485N	K	-	3	2	KLHL6	184693085	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.874000	0.28065	0.560000	0.29169	0.591000	0.81541	AAG		TCGA-IB-7651-01A-11D-2154-08	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	1	0	1	54	290	0	66	0	9.999627e-01	0	83	0	66	2		0	0	0	0	0	2	1	1	53	285	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL6	89857	broad.mit.edu	37	3	183225986	183225986	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183225986A>G	ENST00000341319.3	-	3	805	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6			44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		GTTCTCGAGGACATAGGGGAG	0.572000																								0							SO:0001583	missense			ENST00000341319.3	1	1	hg19	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684303	0.68157	.	.	ENSG00000172578	ENST00000341319	T	0.71934	-0.61	5.87	5.87	0.94306	BTB/Kelch-associated (2);	0.625119	0.17099	N	0.187080	T	0.68751	0.3035	L	0.48877	1.53	0.22975	N	0.998485	B	0.25272	0.122	B	0.29524	0.103	T	0.64516	-0.6389	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	257	Q8WZ60	KLHL6_HUMAN	A	257	ENSP00000341342:V257A	ENSP00000341342:V257A	V	-	2	0	KLHL6	184708680	0.968000	0.33430	0.047000	0.18901	0.871000	0.50021	8.678000	0.91211	2.371000	0.80710	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	1	0	1	87	407	0	120	0	9.999696e-01	0	72	0	120	2		0	0	0	0	0	2	1	1	86	400	0	118	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL24	54800	broad.mit.edu	37	3	183390145	183390145	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183390145A>G	ENST00000454652.2	+	8	1861	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R	KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R|KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24			27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		CCAATTGCCAAAAGGTGTATA	0.363000																								0							SO:0001583	missense			ENST00000454652.2	1	1	hg19	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985839	0.53934	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.56103	0.48;0.48;0.48	5.9	5.9	0.94986	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	N	0.04162	-0.26	0.80722	D	1	D;B	0.56035	0.974;0.025	D;B	0.67725	0.953;0.023	T	0.44421	-0.9329	10	0.02654	T	1	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	492;492	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	R	492	ENSP00000242810:K492R;ENSP00000395012:K492R;ENSP00000419010:K492R	ENSP00000242810:K492R	K	+	2	0	KLHL24	184872839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.257000	0.74773	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	1	0	1	81	360	0	77	1	9.999999e-01	25	80	0	77	2		0	0	0	0	0	2	1	1	81	358	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YEATS2	55689	broad.mit.edu	37	3	183476677	183476677	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183476677C>T	ENST00000305135.5	+	13	1775	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2			49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		ATCTCCACGGCTTCTCAGGTC	0.363000																								0							SO:0001583	missense			ENST00000305135.5	1	1	hg19	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999576	0.35320	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30448	1.53	5.13	3.29	0.37713	.	0.457148	0.22061	N	0.065174	T	0.14700	0.0355	N	0.12182	0.205	0.28126	N	0.930405	B	0.06786	0.001	B	0.04013	0.001	T	0.10359	-1.0633	10	0.33141	T	0.24	-4.1989	5.6175	0.17440	0.0:0.6413:0.1918:0.1669	.	527	Q9ULM3	YETS2_HUMAN	V	527	ENSP00000306983:A527V	ENSP00000306983:A527V	A	+	2	0	YEATS2	184959371	0.739000	0.28196	0.954000	0.39281	0.987000	0.75469	1.212000	0.32394	1.146000	0.42352	0.585000	0.79938	GCT		TCGA-IB-7651-01A-11D-2154-08	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	1	0	1	68	427	0	87	1	9.951973e-01	14	39	0	87	2		0	0	0	0	0	2	1	1	69	425	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
YEATS2	55689	broad.mit.edu	37	3	183503951	183503951	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183503951C>T	ENST00000305135.5	+	20	2970	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2			49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		TGAAAATATCCGATAGCACCT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000305135.5	1	1	hg19	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221416	0.22457	.	.	ENSG00000163872	ENST00000432781	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4236	4.9978	0.14249	0.3097:0.4504:0.1031:0.1368	.	.	.	.	X	111	.	.	R	+	1	2	YEATS2	184986645	0.000000	0.05858	0.715000	0.30552	0.996000	0.88848	-3.082000	0.00613	-1.690000	0.01432	-0.290000	0.09829	CGA		TCGA-IB-7651-01A-11D-2154-08	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	1	0	1	44	219	0	88	1	9.997843e-01	17	49	0	88	2		0	0	0	0	0	2	1	1	43	216	0	88	2								-2.710791	1	1	120906	5	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC5	10057	broad.mit.edu	37	3	183689433	183689433	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183689433T>A	ENST00000334444.6	-	11	1919	c.1679A>T	c.(1678-1680)gAa>gTa	p.E560V	ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5			62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TTCTTCCTCTTCGGGACTGGG	0.607000																								0							SO:0001583	missense			ENST00000334444.6	1	1	hg19	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.179968	0.38511	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.92048	-2.74;-2.96	4.94	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);	0.150530	0.44688	D	0.000437	D	0.90099	0.6907	L	0.61036	1.89	0.41621	D	0.988962	B;B	0.18461	0.001;0.028	B;B	0.13407	0.003;0.009	D	0.87123	0.2192	10	0.30078	T	0.28	-10.1008	15.2971	0.73916	0.0:0.0:0.0:1.0	.	560;560	Q86UX3;O15440	.;MRP5_HUMAN	V	560;496;560	ENSP00000333926:E560V;ENSP00000265586:E560V	ENSP00000265586:E560V	E	-	2	0	ABCC5	185172127	0.999000	0.42202	0.805000	0.32314	0.416000	0.31233	3.744000	0.55112	2.155000	0.67459	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	1	0	1	78	366	0	69	1	9.817566e-01	12	20	0	69	2		0	0	0	0	0	2	1	1	77	361	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC5	10057	broad.mit.edu	37	3	183700361	183700361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183700361C>T	ENST00000334444.6	-	7	1117	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5			62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGGCTGCCAACGGCTGCTGCC	0.488000																								0							SO:0001583	missense			ENST00000334444.6	1	1	hg19	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169779	0.38315	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.89485	-2.52;-2.52	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.063143	0.64402	D	0.000007	T	0.81880	0.4916	N	0.16307	0.4	0.58432	D	0.999992	P;B	0.34837	0.472;0.065	B;B	0.25140	0.058;0.032	T	0.81247	-0.1019	10	0.62326	D	0.03	-17.1801	20.8794	0.99867	0.0:1.0:0.0:0.0	.	293;293	Q86UX3;O15440	.;MRP5_HUMAN	I	293;229;293	ENSP00000333926:V293I;ENSP00000265586:V293I	ENSP00000265586:V293I	V	-	1	0	ABCC5	185183055	0.998000	0.40836	0.849000	0.33467	0.981000	0.71138	3.714000	0.54889	2.941000	0.99782	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	1	0	1	54	271	0	78	1	9.711508e-01	15	16	0	78	2		0	0	0	0	0	2	1	1	52	266	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR3D	200909	broad.mit.edu	37	3	183755893	183755893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183755893C>A	ENST00000382489.3	+	6	745	c.745C>A	c.(745-747)Ctc>Atc	p.L249I	HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic			10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	Ergoloid mesylate(DB01049)	CATCGATGCCCTCAGTTTCTA	0.552000																								0							SO:0001583	missense			ENST00000382489.3	1	1	hg19	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629200	0.28978	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	3.29	2.35	0.29111	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.148834	0.45361	D	0.000362	D	0.88588	0.6477	L	0.52126	1.63	0.22401	N	0.999139	P;P;P;P	0.49307	0.726;0.922;0.673;0.922	P;P;B;P	0.55577	0.665;0.615;0.444;0.779	T	0.79322	-0.1851	10	0.41790	T	0.15	-12.8873	7.1909	0.25824	0.0:0.8478:0.0:0.1522	.	249;76;30;76	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	I	76;201;249;30	ENSP00000334315:L76I;ENSP00000405409:L201I;ENSP00000371929:L249I;ENSP00000389268:L30I	ENSP00000334315:L76I	L	+	1	0	HTR3D	185238587	0.998000	0.40836	0.960000	0.40013	0.008000	0.06430	0.707000	0.25704	0.652000	0.30806	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	1	0	0	16	291	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.999305e-01	16	286	0	43	2								-3.227422	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.630000	0.370000	1.000000	0.610000	0.659992	0.630000	0	4.900000e-01	8.300000e-01
HTR3D	200909	broad.mit.edu	37	3	183756362	183756362	+	Missense_Mutation	SNP	C	C	T	rs142947621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183756362C>T	ENST00000382489.3	+	7	1085	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V|HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic			10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	Ergoloid mesylate(DB01049)	TGTCCCACTGCGCCCCAGAAG	0.657000																								0							SO:0001583	missense			ENST00000382489.3	1	1	hg19	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104866	0.20632	2.27E-4	1.16E-4	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	3.53	-2.29	0.06805	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.580121	0.14908	N	0.291438	T	0.55146	0.1902	N	0.20807	0.61	0.09310	N	1	B;B;B;B	0.33807	0.426;0.172;0.025;0.085	B;B;B;B	0.26416	0.069;0.024;0.009;0.031	T	0.46596	-0.9180	10	0.38643	T	0.18	-1.9671	1.0791	0.01639	0.1685:0.2824:0.3314:0.2176	.	362;187;141;187	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	V	187;312;362;141	ENSP00000334315:A187V;ENSP00000405409:A312V;ENSP00000371929:A362V;ENSP00000389268:A141V	ENSP00000334315:A187V	A	+	2	0	HTR3D	185239056	0.000000	0.05858	0.007000	0.13788	0.151000	0.21798	-1.644000	0.02002	-0.276000	0.09206	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	1	0	0	56	223	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	56	219	0	53	2								-20.000000	1	1	121412	17	43	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR3C	170572	broad.mit.edu	37	3	183777407	183777407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777407G>A	ENST00000318351.1	+	7	938	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic			32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)	Ergoloid mesylate(DB01049)	CTTGCTCCCTGCCAGTGGCAC	0.587000																								0							SO:0001583	missense			ENST00000318351.1	1	1	hg19	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	3.979	-0.006760	0.07773	.	.	ENSG00000178084	ENST00000318351	D	0.81908	-1.55	4.09	1.1	0.20463	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.741044	0.12903	N	0.429618	T	0.79458	0.4449	M	0.71581	2.175	0.09310	N	1	B	0.14805	0.011	B	0.29267	0.1	T	0.63857	-0.6542	10	0.22109	T	0.4	.	6.2804	0.21003	0.0929:0.0:0.5624:0.3447	.	302	Q8WXA8	5HT3C_HUMAN	T	302	ENSP00000322617:A302T	ENSP00000322617:A302T	A	+	1	0	HTR3C	185260101	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.477000	0.22196	0.013000	0.14918	-0.274000	0.10170	GCC		TCGA-IB-7651-01A-11D-2154-08	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	1	0	1	171	662	0	172		0	0	0	0	172	2		0	0	0	0	0	2	1	1	168	653	0	169	2								-3.788057	1	1	121412	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR3C	170572	broad.mit.edu	37	3	183777674	183777674	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777674C>T	ENST00000318351.1	+	8	1018	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic			32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)	Ergoloid mesylate(DB01049)	AGACCGTCTTCATTACCTACC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000318351.1	1	1	hg19	CCDS3250.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	1	0	1	93	366	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	87	358	0	96	2								-3.592291	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR3E	285242	broad.mit.edu	37	3	183822576	183822576	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183822576A>G	ENST00000415389.2	+	5	857	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	HTR3E_ENST00000335304.2_Splice_Site_p.M146V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Splice_Site_p.M131V|HTR3E_ENST00000440596.2_Splice_Site_p.M157V|HTR3E_ENST00000425359.2_Splice_Site_p.M116V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic			40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)	Ergoloid mesylate(DB01049)	CTCCTCCAGCATGGATGTGGA	0.438000													Melanoma(7;227 727 6634 44770)											0							SO:0001630	splice_region_variant			ENST00000415389.2	1	0	hg19	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.378657	0.01204	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.01	3.29	2.12	0.27331	Neurotransmitter-gated ion-channel ligand-binding (3);	0.329657	0.24405	U	0.038803	T	0.58366	0.2117	L	0.28192	0.835	0.23506	N	0.997531	B;B;B;B;B	0.17038	0.003;0.003;0.02;0.02;0.002	B;B;B;B;B	0.16289	0.008;0.01;0.015;0.015;0.006	T	0.34900	-0.9810	10	0.11485	T	0.65	.	6.6043	0.22716	0.8775:0.0:0.1225:0.0	.	157;131;131;146;116	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	131;116;146;60;131;157	ENSP00000401444:M131V;ENSP00000401900:M116V;ENSP00000335511:M146V;ENSP00000391254:M60V;ENSP00000395833:M131V;ENSP00000406050:M157V	ENSP00000335511:M146V	M	+	1	0	HTR3E	185305270	0.379000	0.25123	0.070000	0.20053	0.227000	0.25037	0.614000	0.24314	0.479000	0.27511	-0.326000	0.08463	ATG		TCGA-IB-7651-01A-11D-2154-08	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	1	0	0	17	385	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	9.999566e-01	16	373	0	74	2								-17.504380	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.510000	0.300000	1.000000	0.500000	0.547792	0.510000	0	4.000000e-01	6.700000e-01
EIF2B5	8893	broad.mit.edu	37	3	183860674	183860674	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183860674G>T	ENST00000273783.3	+	11	1776	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	EIF2B5_ENST00000444495.1_Splice_Site_p.V552L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa			27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		TGACATCAAAGGTGAGTGGCA	0.507000																								0							SO:0001630	splice_region_variant			ENST00000273783.3	1	0	hg19	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.925822	0.52759	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.83419	-1.72;-1.72	5.78	5.78	0.91487	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	L	0.48174	1.505	0.80722	D	1	B;D	0.54964	0.023;0.969	B;P	0.61275	0.004;0.886	D	0.84377	0.0547	10	0.28530	T	0.3	.	20.0055	0.97434	0.0:0.0:1.0:0.0	.	552;552	E9PC74;Q13144	.;EI2BE_HUMAN	L	552;552;308	ENSP00000273783:V552L;ENSP00000409142:V552L	ENSP00000273783:V552L	V	+	1	0	EIF2B5	185343368	1.000000	0.71417	0.991000	0.47740	0.746000	0.42486	7.329000	0.79170	2.722000	0.93159	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1	1	0	1	25	106	0	18	1	9.999995e-01	5	106	0	18	2		0	0	0	0	0	2	1	9.999999e-01	25	104	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
DVL3	1857	broad.mit.edu	37	3	183873534	183873534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183873534G>A	ENST00000313143.3	+	1	359	c.111G>A	c.(109-111)ttG>ttA	p.L37L	DVL3_ENST00000431765.1_Silent_p.L37L|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3			35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		AGGGCGTTTTGCAGCGACCCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000313143.3	1	1	hg19	CCDS3253.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	1	0	0	74	334	0	71	1	9.999852e-01	16	59	0	71	2		0	0	0	0	0	2	1	1	73	326	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP2M1	1173	broad.mit.edu	37	3	183899752	183899752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183899752C>T	ENST00000292807.5	+	9	1028	c.880C>T	c.(880-882)Cga>Tga	p.R294*	AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|AP2M1_ENST00000382456.3_Nonsense_Mutation_p.R292*	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit			18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		CCCGCTAGTGCGAGAAGTGGG	0.542000																								0							SO:0001587	stop_gained			ENST00000292807.5	0	1	hg19	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	C	37	6.409621	0.97542	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	292;319;294;234;279;292;223	.	ENSP00000292807:R294X	R	+	1	2	AP2M1	185382446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.259000	0.43259	2.793000	0.96121	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	1	0	1	40	154	0	36	1	1	6	939	0	36	2		0	0	0	0	0	2	1	1	40	148	0	36	2								-3.730179	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCF3	55324	broad.mit.edu	37	3	183911153	183911153	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183911153C>T	ENST00000429586.2	+	20	2069	c.1884C>T	c.(1882-1884)tgC>tgT	p.C628C	ABCF3_ENST00000292808.5_Splice_Site_p.C622C|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3			39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		TGCCTTCCAGCCCCAACTTCT	0.522000																								0							SO:0001630	splice_region_variant			ENST00000429586.2	1	0	hg19	CCDS3254.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	1	0	1	96	516	0	114	1	1	51	224	0	114	2		0	0	0	0	0	2	1	1	95	488	0	114	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALG3	10195	broad.mit.edu	37	3	183962463	183962463	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183962463A>G	ENST00000397676.3	-	5	682	c.652T>C	c.(652-654)Tta>Cta	p.L218L	ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000455059.1_Silent_p.L178L|ALG3_ENST00000418734.2_Silent_p.L162L|ALG3_ENST00000445626.2_Silent_p.L170L|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase			9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		AGAAACAGTAACCCAGGGGCG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000397676.3	1	1	hg19	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870045	0.17322	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.26	0.239	0.15484	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.46638	-0.9177	4	.	.	.	-4.4585	8.2378	0.31636	0.5004:0.0:0.4996:0.0	.	.	.	.	A	121	.	.	V	-	2	0	ALG3	185445157	0.970000	0.33590	0.011000	0.14972	0.995000	0.86356	2.013000	0.40942	0.045000	0.15804	0.379000	0.24179	GTT		TCGA-IB-7651-01A-11D-2154-08	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	1	0	1	18	67	0	22	1	1	75	194	0	22	2		0	0	0	0	0	2	1	9.999885e-01	17	65	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
EIF4G1	1981	broad.mit.edu	37	3	184039075	184039075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039075C>T	ENST00000346169.2	+	10	974	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R235W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		TGCAGATGACCGGTCACAGGG	0.557000																								0							SO:0001583	missense			ENST00000346169.2	1	1	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997630	0.54147	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	3.86;3.85;3.78;0.71;2.75;2.75;3.86;2.9;3.67;3.86;3.79;3.86;3.86;3.86;3.85;2.29;3.67;0.66;3.65;0.54;1.28;3.63	5.54	3.73	0.42828	.	0.504049	0.20782	N	0.085777	T	0.55273	0.1910	N	0.24115	0.695	0.41002	D	0.984934	B;D;D;B	0.76494	0.007;0.999;0.999;0.14	B;D;D;B	0.71870	0.002;0.975;0.952;0.015	T	0.59327	-0.7475	10	0.66056	D	0.02	-16.9319	9.9227	0.41474	0.0:0.838:0.0:0.162	.	242;235;235;242	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	W	235;195;148;39;235;242;242;176;71;242;148;235;235;242;195;71;71;39;39;39;39;39	ENSP00000316879:R235W;ENSP00000391935:R195W;ENSP00000376320:R148W;ENSP00000407244:R39W;ENSP00000391412:R235W;ENSP00000413159:R242W;ENSP00000371767:R242W;ENSP00000403269:R176W;ENSP00000317600:R71W;ENSP00000338020:R242W;ENSP00000407682:R148W;ENSP00000343450:R235W;ENSP00000323737:R235W;ENSP00000416255:R242W;ENSP00000395974:R195W;ENSP00000398145:R71W;ENSP00000399858:R71W;ENSP00000411707:R39W;ENSP00000411826:R39W;ENSP00000409545:R39W;ENSP00000399969:R39W;ENSP00000404754:R39W	ENSP00000323737:R235W	R	+	1	2	EIF4G1	185521769	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.261000	0.32980	1.585000	0.49928	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	0	0	0	18	490	0	104	1	9.996711e-01	32	323	0	104	2		0	0	0	0	0	2	1	9.999771e-01	16	477	0	102	2								-2.602727	1	0	121412	9	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.430000	0.260000	1.000000	0.410000	0.468212	0.430000	0	3.300000e-01	5.600000e-01
EIF4G1	1981	broad.mit.edu	37	3	184039152	184039152	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039152G>A	ENST00000346169.2	+	10	1051	c.780G>A	c.(778-780)tcG>tcA	p.S260S	EIF4G1_ENST00000411531.1_Silent_p.S220S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF4G1_ENST00000392537.2_Silent_p.S173S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000350481.5_Silent_p.S96S|EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF4G1_ENST00000435046.2_Silent_p.S64S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000342981.4_Silent_p.S260S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000424196.1_Silent_p.S267S	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		CCCAGCCTTCGTCGCCTTCTC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000346169.2	0	1	hg19	CCDS3259.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	0	0	0	9	524	0	121	1	9.941412e-01	12	518	0	121	2		0	0	0	0	0	2	1	9.931478e-01	9	504	0	119	2								-3.225389	1	0	121412	2	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.210000	0.100000	1.000000	0.200000	0.262784	0.210000	0	1.400000e-01	3.100000e-01
EIF4G1	1981	broad.mit.edu	37	3	184040619	184040619	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184040619G>T	ENST00000346169.2	+	13	2077	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000342981.4_Missense_Mutation_p.K602N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		ATCAGTGGAAGCCTCTAAACC	0.448000																								0							SO:0001583	missense			ENST00000346169.2	1	1	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132163	0.56828	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.4	4.53	0.55603	.	0.048738	0.85682	D	0.000000	T	0.56140	0.1965	M	0.62016	1.91	0.58432	D	0.999993	D;D;D;D	0.56287	0.975;0.975;0.957;0.975	P;P;P;P	0.57468	0.821;0.821;0.65;0.821	T	0.55036	-0.8203	10	0.36615	T	0.2	-16.0527	8.6956	0.34293	0.2243:0.0:0.7757:0.0	.	609;602;602;609	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	602;562;515;602;609;609;543;438;609;515;602;602;609;562;438;438;406;406	ENSP00000316879:K602N;ENSP00000391935:K562N;ENSP00000376320:K515N;ENSP00000391412:K602N;ENSP00000413159:K609N;ENSP00000371767:K609N;ENSP00000403269:K543N;ENSP00000317600:K438N;ENSP00000338020:K609N;ENSP00000407682:K515N;ENSP00000343450:K602N;ENSP00000323737:K602N;ENSP00000416255:K609N;ENSP00000395974:K562N;ENSP00000398145:K438N;ENSP00000399858:K438N;ENSP00000411826:K406N;ENSP00000404754:K406N	ENSP00000323737:K602N	K	+	3	2	EIF4G1	185523313	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.556000	0.45862	1.525000	0.49052	0.563000	0.77884	AAG		TCGA-IB-7651-01A-11D-2154-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1	112	452	0	139	1	1	183	564	0	139	2		0	0	0	0	0	2	1	1	109	447	0	137	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4G1	1981	broad.mit.edu	37	3	184042077	184042077	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184042077A>G	ENST00000346169.2	+	17	2832	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000342981.4_Missense_Mutation_p.D855G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		TTTGAGAAAGACAAAGATGAT	0.443000																								0							SO:0001583	missense			ENST00000346169.2	1	1	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492538	0.84962	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.71	5.71	0.89125	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.042620	0.85682	D	0.000000	T	0.30510	0.0767	N	0.26130	0.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;0.988;0.994	D;D;D;D	0.81914	0.995;0.947;0.934;0.971	T	0.03651	-1.1016	10	0.08381	T	0.77	-19.4074	16.3019	0.82825	1.0:0.0:0.0:0.0	.	861;855;854;861	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	G	854;814;767;862;861;795;690;861;768;855;854;861;815;690;691;659;658	ENSP00000316879:D854G;ENSP00000391935:D814G;ENSP00000376320:D767G;ENSP00000413159:D862G;ENSP00000371767:D861G;ENSP00000403269:D795G;ENSP00000317600:D690G;ENSP00000338020:D861G;ENSP00000407682:D768G;ENSP00000343450:D855G;ENSP00000323737:D854G;ENSP00000416255:D861G;ENSP00000395974:D815G;ENSP00000398145:D690G;ENSP00000399858:D691G;ENSP00000411826:D659G;ENSP00000404754:D658G	ENSP00000323737:D854G	D	+	2	0	EIF4G1	185524771	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.297000	0.96120	2.317000	0.78254	0.459000	0.35465	GAC		TCGA-IB-7651-01A-11D-2154-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1	90	477	0	115	1	1	146	461	0	115	2		0	0	0	0	0	2	1	1	90	468	0	113	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4G1	1981	broad.mit.edu	37	3	184045152	184045152	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184045152C>T	ENST00000346169.2	+	24	3848	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1194W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		AGTGGAGGAGCGGAGTAGAGA	0.672000																								0							SO:0001583	missense			ENST00000346169.2	1	1	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444943	0.83993	0.0	1.16E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04603	3.81;3.8;3.72;3.8;3.62;3.8;3.72;3.79;3.81;3.8;3.8;3.61;3.59;3.59	5.2	4.33	0.51752	.	0.316936	0.33753	N	0.004598	T	0.11281	0.0275	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68765	0.96;0.96;0.96	T	0.02893	-1.1097	10	0.62326	D	0.03	-14.8784	8.8632	0.35269	0.1826:0.7382:0.0:0.0792	.	1200;1194;1193	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	1193;1153;1106;1200;1029;1200;1107;1194;1193;1200;1154;1030;998;997	ENSP00000316879:R1193W;ENSP00000391935:R1153W;ENSP00000376320:R1106W;ENSP00000371767:R1200W;ENSP00000317600:R1029W;ENSP00000338020:R1200W;ENSP00000407682:R1107W;ENSP00000343450:R1194W;ENSP00000323737:R1193W;ENSP00000416255:R1200W;ENSP00000395974:R1154W;ENSP00000399858:R1030W;ENSP00000411826:R998W;ENSP00000404754:R997W	ENSP00000323737:R1193W	R	+	1	2	EIF4G1	185527846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.386000	0.52492	1.422000	0.47177	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1	59	289	0	65	1	1	153	416	0	65	2		0	0	0	0	0	2	1	1	59	278	0	63	2								-3.003770	1	1	121410	7	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4G1	1981	broad.mit.edu	37	3	184046477	184046477	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184046477C>A	ENST00000346169.2	+	27	4283	c.4012C>A	c.(4012-4014)Ctc>Atc	p.L1338I	EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1339I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		CCACGTGTGGCTCTACCTAGC	0.532000																								0							SO:0001583	missense			ENST00000346169.2	1	1	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196356	0.94960	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.69	5.69	0.88448	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.064556	0.64402	D	0.000005	T	0.68284	0.2984	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66416	-0.5929	10	0.38643	T	0.18	-12.891	19.812	0.96551	0.0:1.0:0.0:0.0	.	1345;1339;1338	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	I	1338;1298;1251;1345;1174;1345;1252;1339;1338;1345;1299;1175;1143;1142	ENSP00000316879:L1338I;ENSP00000391935:L1298I;ENSP00000376320:L1251I;ENSP00000371767:L1345I;ENSP00000317600:L1174I;ENSP00000338020:L1345I;ENSP00000407682:L1252I;ENSP00000343450:L1339I;ENSP00000323737:L1338I;ENSP00000416255:L1345I;ENSP00000395974:L1299I;ENSP00000399858:L1175I;ENSP00000411826:L1143I;ENSP00000404754:L1142I	ENSP00000323737:L1338I	L	+	1	0	EIF4G1	185529171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.013000	0.49582	2.685000	0.91497	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1	135	565	0	139	1	1	170	422	0	139	2		0	0	0	0	0	2	1	1	131	558	0	138	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4G1	1981	broad.mit.edu	37	3	184052556	184052556	+	Missense_Mutation	SNP	G	G	A	rs140087596	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184052556G>A	ENST00000346169.2	+	33	4931	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M|FAM131A_ENST00000340957.5_5'Flank|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M|FAM131A_ENST00000450976.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|EIF4G1_ENST00000342981.4_Missense_Mutation_p.V1555M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|FAM131A_ENST00000383847.2_5'Flank|FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		TGACGAGGACGTGGTGAAGGA	0.592000																								0							SO:0001583	missense			ENST00000346169.2	1	1	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280436	0.59758	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.15	2.35	0.29111	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.071082	0.56097	N	0.000034	D	0.91971	0.7457	M	0.89601	3.045	0.49582	D	0.999802	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68943	0.951;0.961;0.961	D	0.91105	0.4917	10	0.87932	D	0	-3.1884	9.4062	0.38462	0.1802:0.0:0.8198:0.0	.	1561;1555;1554	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	M	1554;1514;1467;1561;1390;1561;1468;1555;1554;1561;1515;1391;1359;1358	ENSP00000316879:V1554M;ENSP00000391935:V1514M;ENSP00000376320:V1467M;ENSP00000371767:V1561M;ENSP00000317600:V1390M;ENSP00000338020:V1561M;ENSP00000407682:V1468M;ENSP00000343450:V1555M;ENSP00000323737:V1554M;ENSP00000416255:V1561M;ENSP00000395974:V1515M;ENSP00000399858:V1391M;ENSP00000411826:V1359M;ENSP00000404754:V1358M	ENSP00000323737:V1554M	V	+	1	0	EIF4G1	185535250	1.000000	0.71417	0.568000	0.28447	0.917000	0.54804	7.675000	0.84002	0.409000	0.25649	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	1	0	1	43	418	0	89	1	1	130	743	0	89	2		0	0	0	0	0	2	1	1	44	412	0	89	2								-13.565300	1	1	121412	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.980370	0.990000	1	9.500000e-01	1
FAM131A	131408	broad.mit.edu	37	3	184062357	184062357	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184062357C>T	ENST00000310585.4	+	3	1971	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A			14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		CCGGCCTGTGCGCCAGGGCTC	0.642000																								0							SO:0001583	missense			ENST00000310585.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	18.84	3.709851	0.68730	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.4	5.4	0.78164	.	0.424092	0.24962	N	0.034217	T	0.45438	0.1342	L	0.47716	1.5	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.911;0.995	T	0.18398	-1.0338	10	0.44086	T	0.13	-16.6087	17.3588	0.87344	0.0:1.0:0.0:0.0	.	203;234;111	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	C	149;111;149;149;234;149;203	ENSP00000388551:R149C;ENSP00000414050:R111C;ENSP00000340974:R149C;ENSP00000414913:R149C;ENSP00000373360:R234C;ENSP00000390588:R149C;ENSP00000310135:R203C	ENSP00000310135:R203C	R	+	1	0	FAM131A	185545051	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.204000	0.51082	2.539000	0.85634	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	1	0	1	144	513	0	102	1	9.999995e-01	20	55	0	102	2		0	0	0	0	0	2	1	1	142	504	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLCN2	1181	broad.mit.edu	37	3	184064584	184064584	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184064584C>T	ENST00000265593.4	-	24	2678	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q|CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.R792Q	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2			27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	Lubiprostone(DB01046)	GATGGCCTTCCGGAGCTGGAA	0.612000																								0							SO:0001583	missense			ENST00000265593.4	1	1	hg19	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259738	0.80246	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-1.94	5.51	4.64	0.57946	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.983;0.999;0.99	D	0.92637	0.6121	10	0.25751	T	0.34	-16.6565	14.3172	0.66460	0.0:0.9285:0.0:0.0715	.	792;807;819;836;792	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	Q	836;819;792;807	ENSP00000265593:R836Q;ENSP00000345056:R819Q;ENSP00000400425:R792Q;ENSP00000391928:R807Q	ENSP00000265593:R836Q	R	-	2	0	CLCN2	185547278	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.012000	0.57131	1.340000	0.45581	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1	1	0	1	79	318	0	59	1	9.695753e-01	8	17	0	59	2		0	0	0	0	0	2	1	1	78	312	0	57	2								-3.180500	1	1	121412	4	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLCN2	1181	broad.mit.edu	37	3	184072081	184072081	+	Missense_Mutation	SNP	G	G	A	rs145746859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184072081G>A	ENST00000265593.4	-	15	1700	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V|CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.A466V|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2			27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	Lubiprostone(DB01046)	GTGTGTCACCGCTCCTGCCAG	0.627000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000265593.4	1	1	hg19	CCDS3263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.197962|5.197962	0.94997|0.94997	0.0|0.0	2.33E-4|2.33E-4	ENSG00000114859|ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512|ENST00000423355	D;D;D;D|T	0.95171|0.70399	-3.63;-3.63;-3.63;-3.63|-0.48	5.14|5.14	5.14|5.14	0.70334|0.70334	Chloride channel, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79070|0.79070	0.4384|0.4384	L|L	0.53561|0.53561	1.675|1.675	0.41557|0.41557	D|D	0.988604|0.988604	D;P;P;B;B|.	0.52996|.	0.957;0.558;0.948;0.415;0.204|.	P;B;P;B;B|.	0.48400|.	0.568;0.158;0.576;0.158;0.075|.	T|T	0.81575|0.81575	-0.0870|-0.0870	10|7	0.87932|0.87932	D|D	0|0	-3.6081|-3.6081	18.2333|18.2333	0.89941|0.89941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	466;510;493;510;466|.	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58|.	.;.;.;CLCN2_HUMAN;.|.	V|W	510;493;466;510|126	ENSP00000265593:A510V;ENSP00000345056:A493V;ENSP00000400425:A466V;ENSP00000391928:A510V|ENSP00000412226:R126W	ENSP00000265593:A510V|ENSP00000412226:R126W	A|R	-|-	2|1	0|2	CLCN2|CLCN2	185554775|185554775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.768000|9.768000	0.98965|0.98965	2.391000|2.391000	0.81399|0.81399	0.563000|0.563000	0.77884|0.77884	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1	1	0	1	36	146	0	41	1	9.756338e-01	13	14	0	41	2		0	0	0	0	0	2	1	1	35	139	0	41	2								-19.998370	1	1	121382	5	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLCN2	1181	broad.mit.edu	37	3	184079203	184079203	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184079203A>G	ENST00000265593.4	-	1	235		c.e1+1		POLR2H_ENST00000452961.1_5'Flank|POLR2H_ENST00000429568.1_5'Flank|CLCN2_ENST00000457512.1_Splice_Site|POLR2H_ENST00000456318.1_5'Flank|CLCN2_ENST00000344937.7_Splice_Site|POLR2H_ENST00000296223.3_5'Flank|CLCN2_ENST00000423355.2_Splice_Site|POLR2H_ENST00000430783.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Splice_Site|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000438240.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2			27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)	Lubiprostone(DB01046)	AGCTTCACTTACCAGGGTCTG	0.687000																								0							SO:0001630	splice_region_variant			ENST00000265593.4	1	1	hg19	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	a	9.801	1.180565	0.21787	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2202	0.37373	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLCN2	185561897	0.998000	0.40836	0.998000	0.56505	0.088000	0.18126	1.702000	0.37836	1.742000	0.51746	0.370000	0.22315	.		TCGA-IB-7651-01A-11D-2154-08	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1	1	0	1	64	362	0	59	0	0	1	0	0	59	2		0	0	0	0	0	2	1	1	63	357	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THPO	7066	broad.mit.edu	37	3	184090519	184090519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184090519C>T	ENST00000204615.7	-	6	1058	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	THPO_ENST00000445696.2_Missense_Mutation_p.G278S|THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.R243K	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin			16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		GGCAGGGAGCCTGTGTCTGAT	0.567000																								0							SO:0001583	missense			ENST00000204615.7	1	1	hg19	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090015|3.090015	0.55968|0.55968	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.33654|0.37058	1.4;1.4|1.22	4.3|4.3	2.31|2.31	0.28768|0.28768	Four-helical cytokine, core (1);|.	0.571172|.	0.15959|.	N|.	0.236359|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B|B	0.25563|0.21606	0.129;0.079|0.058	B;B|B	0.20767|0.22601	0.031;0.014|0.04	T|T	0.19386|0.19386	-1.0307|-1.0307	10|9	0.45353|0.26408	T|T	0.12|0.33	-16.674|-16.674	5.3085|5.3085	0.15817|0.15817	0.0:0.7299:0.0:0.2701|0.0:0.7299:0.0:0.2701	.|.	278;282|243	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	S|K	282;278;243|243	ENSP00000204615:G282S;ENSP00000410763:G278S|ENSP00000411704:R243K	ENSP00000204615:G282S|ENSP00000411704:R243K	G|R	-|-	1|2	0|0	THPO|THPO	185573213|185573213	0.009000|0.009000	0.17119|0.17119	0.321000|0.321000	0.25320|0.25320	0.797000|0.797000	0.45037|0.45037	0.824000|0.824000	0.27379|0.27379	1.020000|1.020000	0.39573|0.39573	0.467000|0.467000	0.42956|0.42956	GGC|AGG		TCGA-IB-7651-01A-11D-2154-08	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	1	0	1	196	821	0	180	0	2.493376e-01	0	5	0	180	2		0	0	0	0	0	2	1	1	191	787	0	178	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRD	8646	broad.mit.edu	37	3	184102964	184102964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184102964C>T	ENST00000204604.1	+	14	2002	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	CHRD_ENST00000450923.1_Missense_Mutation_p.L586F|CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.L216F	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin			48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		CACTGCCCACCTCCTTGGGCC	0.592000																								0							SO:0001583	missense			ENST00000204604.1	1	1	hg19	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191675	0.78902	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.29	5.29	0.74685	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.39692	1.235	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.955;1.0	D;D;P;D	0.91635	0.999;0.991;0.817;0.995	T	0.55198	-0.8178	10	0.51188	T	0.08	-22.5074	16.8087	0.85712	0.0:1.0:0.0:0.0	.	216;546;586;586	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	F	586;586;546;216;299	ENSP00000204604:L586F;ENSP00000408972:L586F;ENSP00000334036:L546F;ENSP00000442948:L216F	ENSP00000204604:L586F	L	+	1	0	CHRD	185585658	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.067000	0.64357	2.662000	0.90505	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	1	0	1	150	646	0	122	0	8.567729e-01	0	17	0	122	2		0	0	0	0	0	2	1	1	148	625	0	120	2								-3.424639	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRD	8646	broad.mit.edu	37	3	184104362	184104362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184104362C>T	ENST00000204604.1	+	16	2261	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	CHRD_ENST00000450923.1_Missense_Mutation_p.P672L|CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin			48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		CTGGGGGCTCCGGATACAGCC	0.716000																								0							SO:0001583	missense			ENST00000204604.1	1	1	hg19	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823859	0.32237	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14640	2.73;2.5;2.49	4.58	-5.2	0.02823	.	1.971630	0.02221	N	0.064057	T	0.07908	0.0198	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.15719	0.014;0.0;0.005	B;B;B	0.11329	0.006;0.0;0.003	T	0.25398	-1.0133	10	0.23891	T	0.37	-0.2546	2.0571	0.03583	0.1457:0.3244:0.106:0.424	.	632;672;672	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	L	672;672;632;385	ENSP00000204604:P672L;ENSP00000408972:P672L;ENSP00000334036:P632L	ENSP00000204604:P672L	P	+	2	0	CHRD	185587056	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.745000	0.04834	-0.742000	0.04790	-0.232000	0.12228	CCG		TCGA-IB-7651-01A-11D-2154-08	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	1	0	0	17	74	0	15	0	1.008922e-01	0	3	0	15	2		0	0	0	0	0	2	1	9.999776e-01	17	72	0	14	2								-20.000000	1	1	116712	8	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999830	0.990000	1	9.900000e-01	1
SATB1	6304	broad.mit.edu	37	3	18419793	18419793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18419793C>A	ENST00000338745.6	-	9	3178	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*	SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1			32					CCATTCCTTTCAGTGGCAATA	0.393000																								0							SO:0001587	stop_gained			ENST00000338745.6	0	1	hg19	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	42	9.317731	0.99135	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.9854	19.6513	0.95812	0.0:1.0:0.0:0.0	.	.	.	.	X	482	.	ENSP00000341024:E482X	E	-	1	0	SATB1	18394797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.704000	0.92352	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	0	174	776	0	207	0	9.865462e-01	0	32	0	207	2		0	0	0	0	0	2	1	1	167	763	0	205	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHB3	2049	broad.mit.edu	37	3	184290513	184290513	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290513C>T	ENST00000330394.2	+	3	857	c.405C>T	c.(403-405)taC>taT	p.Y135Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3			51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		TCTTCTACTACGAGGCTGACA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000330394.2	0	1	hg19	CCDS3268.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	0	0	0	8	312	0	58	1	1.667904e-01	2	24	0	58	2		0	0	0	0	0	2	1	9.895993e-01	8	312	0	57	2								-8.360312	1	1	121410	5	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.310000	0.140000	1.000000	0.290000	0.363503	0.310000	0	2.100000e-01	4.600000e-01
EPHB3	2049	broad.mit.edu	37	3	184290757	184290757	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290757G>A	ENST00000330394.2	+	3	1101	c.649G>A	c.(649-651)Gca>Aca	p.A217T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	p.A217T(1)		51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		ATCCACCACCGCAGGCTTCGC	0.632000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000330394.2	1	1	hg19	CCDS3268.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.4	4.638959	0.87760	.	.	ENSG00000182580	ENST00000330394	T	0.73258	-0.73	5.27	5.27	0.74061	.	0.056206	0.64402	D	0.000001	T	0.78824	0.4344	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79706	-0.1691	10	0.52906	T	0.07	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	217	P54753	EPHB3_HUMAN	T	217	ENSP00000332118:A217T	ENSP00000332118:A217T	A	+	1	0	EPHB3	185773451	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	7.872000	0.87187	2.445000	0.82738	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	1	0	1	72	346	0	67	1	9.824361e-01	7	26	0	67	2		0	0	0	0	0	2	1	1	72	343	0	66	2								-3.355915	1	1	121396	8	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHB3	2049	broad.mit.edu	37	3	184297593	184297593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184297593C>T	ENST00000330394.2	+	11	2495	c.2043C>T	c.(2041-2043)agC>agT	p.S681S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3			51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		ACTTCCTAAGCGAGGCCTCCA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000330394.2	1	1	hg19	CCDS3268.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	1	0	1	83	345	0	71	1	9.995804e-01	14	36	0	71	2		0	0	0	0	0	2	1	1	82	330	0	71	2								-20.000000	1	1	121412	4	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHB3	2049	broad.mit.edu	37	3	184298910	184298910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184298910C>T	ENST00000330394.2	+	14	3141	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3			51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		CAAGCTCATCCGCAATGCTGC	0.587000																								0							SO:0001583	missense			ENST00000330394.2	0	1	hg19	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345770	0.61073	.	.	ENSG00000182580	ENST00000330394	T	0.62639	0.01	3.9	3.0	0.34707	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84958	0.0875	10	0.87932	D	0	.	13.1962	0.59740	0.0:0.8382:0.1618:0.0	.	897	P54753	EPHB3_HUMAN	C	897	ENSP00000332118:R897C	ENSP00000332118:R897C	R	+	1	0	EPHB3	185781604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	0.940000	0.37473	0.478000	0.44815	CGC		TCGA-IB-7651-01A-11D-2154-08	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	0	0	0	9	493	0	100	1	2.755331e-01	2	50	0	100	2		0	0	0	0	0	2	1	9.933314e-01	9	476	0	100	2								-2.472695	0	1	121412	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.220000	0.100000	1.000000	0.210000	0.275398	0.220000	0	1.500000e-01	3.200000e-01
EPHB3	2049	broad.mit.edu	37	3	184299391	184299391	+	Missense_Mutation	SNP	C	C	T	rs144473660	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184299391C>T	ENST00000330394.2	+	16	3430	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3			51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		ATGAACCAGACGCTGCCTGTG	0.617000																								0							SO:0001583	missense			ENST00000330394.2	1	1	hg19	CCDS3268.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.94	3.259532	0.59321	.	.	ENSG00000182580	ENST00000330394	T	0.06528	3.29	4.36	4.36	0.52297	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	N	0.16307	0.4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.20519	T	0.43	.	16.7884	0.85580	0.0:1.0:0.0:0.0	.	993	P54753	EPHB3_HUMAN	M	993	ENSP00000332118:T993M	ENSP00000332118:T993M	T	+	2	0	EPHB3	185782085	0.999000	0.42202	0.981000	0.43875	0.946000	0.59487	4.054000	0.57434	2.378000	0.81104	0.643000	0.83706	ACG		TCGA-IB-7651-01A-11D-2154-08	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	1	0	1	26	100	0	29	1	9.992840e-01	12	36	0	29	2		0	0	0	0	0	2	1	1	26	100	0	29	2								-20.000000	1	1	121382	1	26	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SATB1	6304	broad.mit.edu	37	3	18456684	18456684	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18456684G>A	ENST00000338745.6	-	5	2292	c.558C>T	c.(556-558)caC>caT	p.H186H	SATB1_ENST00000454909.2_Silent_p.H186H|SATB1_ENST00000417717.2_Silent_p.H186H|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1			32					TCACTGTGGTGTGCGACCATT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000338745.6	1	1	hg19	CCDS2631.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	0	27	332	0	55	0	7.522772e-01	0	35	0	55	2		0	0	0	0	0	2	1	1	26	325	0	55	2								-8.444536	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.900000	0.600000	1.000000	1.000000	0.882392	0.900000	1	7.400000e-01	1
SATB1	6304	broad.mit.edu	37	3	18457596	18457596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18457596C>A	ENST00000338745.6	-	4	2152	c.418G>T	c.(418-420)Gtt>Ttt	p.V140F	SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|SATB1_ENST00000417717.2_Missense_Mutation_p.V140F|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1			32					GACAGTGGAACTGGATTCCAC	0.393000																								0							SO:0001583	missense			ENST00000338745.6	1	1	hg19	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713023	0.68730	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	L	0.47716	1.5	0.80722	D	1	D;P	0.65815	0.995;0.941	D;P	0.65233	0.933;0.632	D	0.85488	0.1183	10	0.72032	D	0.01	-7.4249	19.7401	0.96223	0.0:1.0:0.0:0.0	.	140;140	Q01826-2;Q01826	.;SATB1_HUMAN	F	140	ENSP00000341024:V140F;ENSP00000399708:V140F;ENSP00000399518:V140F;ENSP00000402982:V140F;ENSP00000406727:V140F;ENSP00000390529:V140F	ENSP00000341024:V140F	V	-	1	0	SATB1	18432600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.727000	0.93392	0.591000	0.81541	GTT		TCGA-IB-7651-01A-11D-2154-08	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	1	78	310	0	76	0	9.960857e-01	0	36	0	76	2		0	0	0	0	0	2	1	1	76	307	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SATB1	6304	broad.mit.edu	37	3	18462353	18462353	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18462353T>C	ENST00000338745.6	-	2	1841	c.107A>G	c.(106-108)aAc>aGc	p.N36S	SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|SATB1_ENST00000417717.2_Missense_Mutation_p.N36S|SATB1_ENST00000493952.2_Missense_Mutation_p.N36S|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1			32					CGGGCTCCCGTTCTGCTCCAG	0.512000																								0							SO:0001583	missense			ENST00000338745.6	1	1	hg19	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699728	0.88924	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509;ENST00000444341	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.74	5.74	0.90152	.	0.044474	0.85682	D	0.000000	T	0.77532	0.4144	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.917	T	0.79708	-0.1690	10	0.87932	D	0	-19.257	16.0363	0.80631	0.0:0.0:0.0:1.0	.	36;36	Q01826-2;Q01826	.;SATB1_HUMAN	S	36	ENSP00000341024:N36S;ENSP00000399708:N36S;ENSP00000399518:N36S;ENSP00000402982:N36S;ENSP00000406727:N36S;ENSP00000390529:N36S;ENSP00000398072:N36S;ENSP00000408871:N36S;ENSP00000391344:N36S	ENSP00000341024:N36S	N	-	2	0	SATB1	18437357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.193000	0.70182	0.460000	0.39030	AAC		TCGA-IB-7651-01A-11D-2154-08	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	1	146	658	0	126	0	9.897554e-01	1	33	0	126	2		0	0	0	0	0	2	1	1	145	649	0	124	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS8	23355	broad.mit.edu	37	3	184766325	184766325	+	Missense_Mutation	SNP	G	G	A	rs16859527	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184766325G>A	ENST00000437079.3	+	47	4286	c.4115G>A	c.(4114-4116)cGt>cAt	p.R1372H	VPS8_ENST00000446204.2_Missense_Mutation_p.R1280H|VPS8_ENST00000436792.2_Missense_Mutation_p.R1370H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1372H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)			54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		CAGCTTTGCCGTCTCTACCGA	0.418000																								0							SO:0001583	missense			ENST00000437079.3	1	0	hg19	CCDS46971.1	17	0.007783882783882784	0	0.0	0	0.0	17	0.02972027972027972	0	0.0	G	14.82	2.650495	0.47362	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	6.08	1.24	0.21308	.	0.363435	0.32015	N	0.006719	T	0.04634	0.0126	L	0.40543	1.245	0.31810	N	0.627244	P;B;P	0.38440	0.631;0.346;0.56	B;B;B	0.33690	0.095;0.168;0.096	T	0.08269	-1.0730	10	0.45353	T	0.12	-26.1371	8.6392	0.33968	0.3793:0.0:0.6207:0.0	rs16859527;rs52799081;rs16859527	1372;1280;1370	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	H	1372;1372;1370;1280	ENSP00000287546:R1372H;ENSP00000397879:R1372H;ENSP00000404704:R1370H;ENSP00000405483:R1280H	ENSP00000287546:R1372H	R	+	2	0	VPS8	186249019	0.608000	0.26966	0.388000	0.26195	0.997000	0.91878	0.587000	0.23909	-0.049000	0.13379	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1	90	395	0	83	1	9.999966e-01	21	60	0	83	2		0	0	0	0	0	2	1	1	87	388	0	83	2								-2.754107	1	1	120804	319	57	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K13	9175	broad.mit.edu	37	3	185183578	185183578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185183578C>T	ENST00000265026.3	+	9	1766	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13	p.R478W(2)|p.R478R(1)		54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		GAAGCTTGAGCGGGCGAATAA	0.478000																								3	Substitution - Missense(2)|Substitution - coding silent(1)						SO:0001583	missense			ENST00000265026.3	1	1	hg19	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873817	0.72180	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.80566	-1.39;-1.35;-1.25;-1.25;-1.35;-1.05	4.97	2.95	0.34219	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.83243	0.5212	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.996;0.997	D	0.84993	0.0895	10	0.72032	D	0.01	.	13.4974	0.61434	0.3171:0.6829:0.0:0.0	.	334;271;478	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	W	271;478;334;334;478;223	ENSP00000411483:R271W;ENSP00000399910:R478W;ENSP00000409325:R334W;ENSP00000439257:R334W;ENSP00000265026:R478W;ENSP00000415712:R223W	ENSP00000265026:R478W	R	+	1	2	MAP3K13	186666272	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.491000	0.22419	2.309000	0.77851	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	1	0	1	143	564	1	156	1	3.508386e-01	2	4	1	156	2		0	0	0	0	0	2	1	1	140	556	1	155	16								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K13	9175	broad.mit.edu	37	3	185200169	185200169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185200169C>T	ENST00000265026.3	+	14	3160	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	MAP3K13_ENST00000424227.1_Silent_p.D942D|MAP3K13_ENST00000446828.1_Silent_p.D735D|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000535426.1_Silent_p.D798D	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13	p.D942D(1)		54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		AAGAATCGGACTGTGACTCTT	0.423000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000265026.3	1	1	hg19	CCDS3270.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	1	0	0	119	468	0	168	0	1.077616e-01	1	2	0	168	2		0	0	0	0	0	2	1	1	113	449	0	166	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM41A	90407	broad.mit.edu	37	3	185209335	185209335	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185209335T>G	ENST00000421852.1	-	5	880	c.785A>C	c.(784-786)aAa>aCa	p.K262T	TMEM41A_ENST00000296254.3_3'UTR|TMEM41A_ENST00000475480.1_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A			4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		TCATGTGTCTTTTCTACTGTG	0.383000																								0							SO:0001583	missense			ENST00000421852.1	1	1	hg19	CCDS3271.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964913	0.53507	.	.	ENSG00000163900	ENST00000421852	.	.	.	5.69	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.70275	2.135	0.80722	D	1	P	0.47106	0.89	B	0.40901	0.343	T	0.58994	-0.7537	9	0.72032	D	0.01	-15.9716	9.7811	0.40649	0.0:0.0774:0.0:0.9226	.	262	Q96HV5	TM41A_HUMAN	T	262	.	ENSP00000406885:K262T	K	-	2	0	TMEM41A	186692029	0.997000	0.39634	0.999000	0.59377	0.499000	0.33736	2.946000	0.49050	2.178000	0.69098	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	1	0	1	55	226	0	50	1	9.999995e-01	18	74	0	50	2		0	0	0	0	0	2	1	1	55	219	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIPH	200879	broad.mit.edu	37	3	185232288	185232288	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185232288A>C	ENST00000296252.4	-	8	1145	c.1004T>G	c.(1003-1005)aTt>aGt	p.I335S	LIPH_ENST00000424591.2_Missense_Mutation_p.I301S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H			20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		CCATGTTATAATATCCACAAA	0.393000																								0							SO:0001583	missense			ENST00000296252.4	1	1	hg19	CCDS3272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.40|12.40	1.927515|1.927515	0.34002|0.34002	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000296252;ENST00000424591|ENST00000435679	D;D|.	0.90504|.	-2.68;-2.58|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.170455|.	0.53938|.	D|.	0.000046|.	T|T	0.64011|0.64011	0.2560|0.2560	M|M	0.72894|0.72894	2.215|2.215	0.32274|0.32274	N|N	0.568493|0.568493	D;D|.	0.63880|.	0.993;0.957|.	P;P|.	0.55455|.	0.776;0.71|.	T|T	0.71820|0.71820	-0.4477|-0.4477	10|5	0.87932|.	D|.	0|.	-13.7778|-13.7778	13.4427|13.4427	0.61123|0.61123	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	301;335|.	A2IBA6;Q8WWY8|.	.;LIPH_HUMAN|.	S|V	335;301|13	ENSP00000296252:I335S;ENSP00000396384:I301S|.	ENSP00000296252:I335S|.	I|L	-|-	2|1	0|2	LIPH|LIPH	186714982|186714982	0.994000|0.994000	0.37717|0.37717	0.969000|0.969000	0.41365|0.41365	0.254000|0.254000	0.26022|0.26022	6.868000|6.868000	0.75516|0.75516	2.044000|2.044000	0.60594|0.60594	0.379000|0.379000	0.24179|0.24179	ATT|TTA		TCGA-IB-7651-01A-11D-2154-08	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1	1	0	1	89	352	0	66	1	1	52	50	0	66	2		0	0	0	0	0	2	1	1	88	345	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP2	59343	broad.mit.edu	37	3	185304209	185304209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185304209G>A	ENST00000296257.5	+	1	248	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SENP2_ENST00000465201.1_Intron|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000427465.2_De_novo_Start_InFrame	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2			12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		GGTATGTACAGATGGCTGGTT	0.657000																								0							SO:0001583	missense			ENST00000296257.5	1	1	hg19	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537215	0.45176	.	.	ENSG00000163904	ENST00000296257;ENST00000437107	T	0.21543	2.0	5.02	1.79	0.24919	.	0.147188	0.32068	N	0.006630	T	0.08802	0.0218	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	10	0.10377	T	0.69	-8.9996	5.2464	0.15498	0.487:0.0:0.513:0.0	.	3	Q9HC62	SENP2_HUMAN	K	3	ENSP00000296257:R3K	ENSP00000296257:R3K	R	+	2	0	SENP2	186786903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.523000	0.22925	0.550000	0.28991	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	1	0	1	192	784	0	189	1	9.996552e-01	18	31	0	189	2		0	0	0	0	0	2	1	1	188	770	0	189	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF2BP2	10644	broad.mit.edu	37	3	185407235	185407235	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185407235C>T	ENST00000382199.2	-	6	680	c.585G>A	c.(583-585)ccG>ccA	p.P195P	IGF2BP2_ENST00000421047.2_Silent_p.P138P|IGF2BP2_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000457616.2_Silent_p.P201P|IGF2BP2_ENST00000494906.1_5'Flank	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2			20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		GGATCCGCAGCGGGAAATCAA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000382199.2	1	1	hg19	CCDS3273.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	1	0	1	118	623	1	131	1	9.957505e-01	21	36	1	131	3		0	0	0	0	0	2	1	1	114	617	1	129	19								-20.000000	1	1	121412	3	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ETV5	2119	broad.mit.edu	37	3	185774871	185774871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185774871G>A	ENST00000306376.5	-	11	1448	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	ETV5_ENST00000537818.1_Missense_Mutation_p.P443L|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.P401L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5			28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		TACCTCTTCCGGTTCTATCAG	0.473000			T	TMPRSS2, SCL45A3	Prostate										Dom	yes		3	3q28	2119	ets variant gene 5		E	0							SO:0001583	missense			ENST00000306376.5	1	1	hg19	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796945	0.90453	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.58652	0.32;0.32;0.32	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.86282	0.1668	10	0.87932	D	0	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	401;443	P41161;B7Z7D7	ETV5_HUMAN;.	L	401;401;443	ENSP00000306894:P401L;ENSP00000413755:P401L;ENSP00000441737:P443L	ENSP00000306894:P401L	P	-	2	0	ETV5	187257565	1.000000	0.71417	0.958000	0.39756	0.857000	0.48899	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	1	0	1	39	194	0	52	1	9.998768e-01	23	48	0	52	2		0	0	0	0	0	2	1	1	37	189	0	51	2								-2.695095	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DGKG	1608	broad.mit.edu	37	3	185986607	185986607	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185986607C>T	ENST00000265022.3	-	12	1638	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	DGKG_ENST00000344484.4_Missense_Mutation_p.V367M|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa			42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	Phosphatidylserine(DB00144)	CGGCACCACACGCAGTGCCGC	0.602000																								0							SO:0001583	missense			ENST00000265022.3	1	1	hg19	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218901	0.79464	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84730	-1.89;-1.89;-1.89	5.16	4.28	0.50868	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.978	D	0.90842	0.4724	10	0.56958	D	0.05	.	15.1375	0.72579	0.0:0.8579:0.1421:0.0	.	367;367	P49619-2;P49619	.;DGKG_HUMAN	M	367;367;118	ENSP00000265022:V367M;ENSP00000339777:V367M;ENSP00000395526:V118M	ENSP00000265022:V367M	V	-	1	0	DGKG	187469301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.755000	0.68750	1.319000	0.45190	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3	1	0	1	36	169	0	35	0	3.265515e-02	0	2	0	35	2		0	0	0	0	0	2	1	1	35	169	0	35	2								-20.000000	1	1	121412	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DGKG	1608	broad.mit.edu	37	3	185993442	185993442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185993442C>T	ENST00000265022.3	-	10	1343	c.804G>A	c.(802-804)ggG>ggA	p.G268G	DGKG_ENST00000344484.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G|DGKG_ENST00000382164.4_Silent_p.G268G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa			42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	Phosphatidylserine(DB00144)	GCCGCCCATCCCCCTTGGAGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000265022.3	0	1	hg19	CCDS3274.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3	0	0	0	6	221	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	9.650919e-01	6	220	0	42	2								-7.668308	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.340000	0.140000	1.000000	0.300000	0.390263	0.340000	0	2.200000e-01	5.200000e-01
CRYGS	1427	broad.mit.edu	37	3	186256636	186256636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186256636G>A	ENST00000392499.2	-	4	725	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CRYGS_ENST00000307944.5_Missense_Mutation_p.S129F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S			11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)		CACCTTACAGGAGTGGATCTC	0.488000																								0							SO:0001583	missense			ENST00000392499.2	0	1	hg19	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944380	0.92593	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	D;D	0.93426	-3.22;-3.22	5.95	5.95	0.96441	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.082064	0.49916	U	0.000131	D	0.98077	0.9366	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98985	1.0806	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	129	P22914	CRBS_HUMAN	F	129	ENSP00000376287:S129F;ENSP00000312099:S129F	ENSP00000312099:S129F	S	-	2	0	CRYGS	187739330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.825000	0.97269	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	0	0	0	6	240	0	58	0	2.199625e-02	0	8	0	58	2		0	0	0	0	0	2	1	9.627653e-01	6	234	0	58	2								-7.170700	1	1	121412	1	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.310000	0.120000	1.000000	0.280000	0.365145	0.310000	0	2.000000e-01	4.800000e-01
TBCCD1	55171	broad.mit.edu	37	3	186272090	186272090	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186272090C>T	ENST00000424280.1	-	6	1976	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Silent_p.Q403Q|TBCCD1_ENST00000338733.5_Silent_p.Q499Q	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1			17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)		TCTGTATCTTCTGTTCTCTTT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000424280.1	1	1	hg19	CCDS3276.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	1	0	1	129	597	0	121	1	9.999845e-01	20	54	0	121	2		0	0	0	0	0	2	1	1	123	582	0	120	2								-3.252770	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJB11	51726	broad.mit.edu	37	3	186299230	186299230	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186299230G>A	ENST00000439351.1	+	6	1456	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11			15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)		CAAGAGATGCGGACCACCCAG	0.517000																								0							SO:0001583	missense			ENST00000439351.1	1	1	hg19	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240637	0.58995	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67865	-0.29;-0.29	5.85	4.98	0.66077	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.33624	1.015	0.80722	D	1	B	0.27765	0.188	B	0.20184	0.028	T	0.49380	-0.8946	10	0.27082	T	0.32	-15.0608	12.9238	0.58247	0.0784:0.0:0.9216:0.0	.	176	Q9UBS4	DJB11_HUMAN	Q	176	ENSP00000414398:R176Q;ENSP00000265028:R176Q	ENSP00000265028:R176Q	R	+	2	0	DNAJB11	187781924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.467000	0.48044	-0.150000	0.13652	CGG		TCGA-IB-7651-01A-11D-2154-08	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1	1	0	1	75	449	0	111	1	1	135	424	0	111	2		0	0	0	0	0	2	1	1	73	440	0	110	2								-3.017947	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJB11	51726	broad.mit.edu	37	3	186302256	186302256	+	Missense_Mutation	SNP	C	C	T	rs139219315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186302256C>T	ENST00000439351.1	+	10	1819	c.890C>T	c.(889-891)gCg>gTg	p.A297V	DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11			15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)		AGGCCAGGAGCGAAGCTATGG	0.448000																								0							SO:0001583	missense			ENST00000439351.1	1	1	hg19	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868128	0.91587	0.0	1.16E-4	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.046875	0.85682	D	0.000000	T	0.55353	0.1915	M	0.85630	2.765	0.80722	D	1	P	0.44946	0.846	B	0.43658	0.426	T	0.60281	-0.7294	10	0.48119	T	0.1	-13.9583	18.1573	0.89696	0.0:1.0:0.0:0.0	.	297	Q9UBS4	DJB11_HUMAN	V	297	ENSP00000414398:A297V;ENSP00000265028:A297V	ENSP00000265028:A297V	A	+	2	0	DNAJB11	187784950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.578000	0.82498	2.894000	0.99253	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1	1	0	0	17	255	0	66	1	1	54	779	0	66	2		0	0	0	0	0	2	1	9.999552e-01	16	244	0	66	2								-19.727630	1	1	121412	7	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.750000	0.450000	1.000000	1.000000	0.768292	0.750000	0	5.900000e-01	9.800000e-01
AHSG	197	broad.mit.edu	37	3	186334294	186334294	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186334294C>T	ENST00000273784.5	+	3	463	c.387C>T	c.(385-387)taC>taT	p.Y129Y	AHSG_ENST00000411641.2_Silent_p.Y129Y	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein			22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)		CCGTGGTATACGCAAAATGTG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000273784.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	1	0	1	32	85	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	1	32	84	0	20	2								-20.000000	1	1	121406	10	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FETUB	26998	broad.mit.edu	37	3	186358424	186358424	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186358424G>C	ENST00000265029.3	+	1	276	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R	FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R|FETUB_ENST00000382136.3_Missense_Mutation_p.G59R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B			20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)		CAGAAAGGATGGCTATGTGCT	0.577000																								0							SO:0001583	missense			ENST00000265029.3	1	1	hg19	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367130	0.82463	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.51817	1.6;1.6;0.69;0.69	5.26	5.26	0.73747	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.000000	0.64402	D	0.000008	T	0.74749	0.3757	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.80025	-0.1555	10	0.87932	D	0	-32.4386	15.109	0.72340	0.0:0.0:1.0:0.0	.	59;59;59	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	59	ENSP00000404288:G59R;ENSP00000265029:G59R;ENSP00000371569:G59R;ENSP00000371571:G59R	ENSP00000265029:G59R	G	+	1	0	FETUB	187841118	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	4.938000	0.63519	2.840000	0.97914	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	1	0	1	229	1018	0	282		0	0	0	0	282	2		0	0	0	0	0	2	1	1	223	1005	0	279	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRG	3273	broad.mit.edu	37	3	186395415	186395415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186395415C>T	ENST00000232003.4	+	7	1401	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein			37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)		CTTAAGAAGGCGAGGCCCAGG	0.552000																								0							SO:0001587	stop_gained			ENST00000232003.4	0	1	hg19	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676245	0.47886	0.0	1.16E-4	ENSG00000113905	ENST00000232003	.	.	.	4.88	2.37	0.29283	.	0.270380	0.26590	N	0.023525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8229	8.8476	0.35179	0.6:0.4:0.0:0.0	.	.	.	.	X	441	.	ENSP00000232003:R441X	R	+	1	2	HRG	187878109	0.002000	0.14202	0.035000	0.18076	0.002000	0.02628	0.913000	0.28611	1.016000	0.39470	-0.410000	0.06199	CGA		TCGA-IB-7651-01A-11D-2154-08	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	1	0	1	77	285	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	76	281	0	66	2								-20.000000	1	1	121412	4	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4A2	1974	broad.mit.edu	37	3	186505616	186505616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186505616G>A	ENST00000323963.5	+	10	1088	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M|SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363548.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2			28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)		TGTGCAACAAGTGTCTTTGGT	0.368000			T	BCL6	NHL										Dom	yes		3	3q27.3	1974	eukaryotic translation initiation factor 4A, isoform 2		L	0							SO:0001583	missense			ENST00000323963.5	1	1	hg19	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759885	0.89932	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.09350	2.99;2.99;2.99	5.43	5.43	0.79202	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	H	0.99249	4.485	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70935	0.965;0.952;0.971	T	0.74140	-0.3761	10	0.87932	D	0	.	17.0851	0.86609	0.0:0.0:1.0:0.0	.	247;343;342	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	M	342;343;247	ENSP00000326381:V342M;ENSP00000398370:V343M;ENSP00000348925:V247M	ENSP00000326381:V342M	V	+	1	0	EIF4A2	187988310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.344000	0.97050	2.709000	0.92574	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	1	0	1	79	304	0	78	1	1	135	878	0	78	2		0	0	0	0	0	2	1	1	77	298	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST6GAL1	6480	broad.mit.edu	37	3	186793412	186793412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186793412C>T	ENST00000169298.3	+	8	1716	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1			7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)		CCCATCCAAGCGCAAGACTGA	0.512000																								0							SO:0001583	missense			ENST00000169298.3	1	1	hg19	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415624	0.83449	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.32988	1.43;1.43;1.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73858	-0.3850	10	0.87932	D	0	-7.2879	17.8009	0.88586	0.0:1.0:0.0:0.0	.	348	P15907	SIAT1_HUMAN	C	348;117;348	ENSP00000169298:R348C;ENSP00000412221:R117C;ENSP00000389337:R348C	ENSP00000169298:R348C	R	+	1	0	ST6GAL1	188276106	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.321000	0.33678	2.884000	0.98904	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	1	0	1	58	249	0	76	1	1	4	217	0	76	2		0	0	0	0	0	2	1	1	58	245	0	76	2								-20.000000	1	1	121412	2	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTP1	132112	broad.mit.edu	37	3	186917808	186917808	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186917808G>A	ENST00000312295.4	+	2	772	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1			22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)		TTGGGCCACGGTCCTGCTGCT	0.597000																								0							SO:0001583	missense			ENST00000312295.4	1	1	hg19	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946158	0.53079	.	.	ENSG00000175077	ENST00000312295	T	0.22539	1.95	5.74	5.74	0.90152	.	0.094831	0.45606	D	0.000347	T	0.15998	0.0385	N	0.24115	0.695	0.28188	N	0.927894	B	0.09022	0.002	B	0.09377	0.004	T	0.08027	-1.0742	10	0.30078	T	0.28	.	15.418	0.74987	0.0:0.0:1.0:0.0	.	248	P59025	RTP1_HUMAN	I	248	ENSP00000311712:V248I	ENSP00000311712:V248I	V	+	1	0	RTP1	188400502	0.851000	0.29673	0.992000	0.48379	0.995000	0.86356	2.129000	0.42055	2.723000	0.93209	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	0	0	0	15	571	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	9.998515e-01	14	560	0	79	2								-3.240031	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.310000	0.170000	1.000000	0.300000	0.357387	0.310000	0	2.300000e-01	4.200000e-01
MASP1	5648	broad.mit.edu	37	3	186968053	186968053	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186968053A>C	ENST00000337774.5	-	8	1465	c.1076T>G	c.(1075-1077)aTt>aGt	p.I359S	MASP1_ENST00000392472.2_Missense_Mutation_p.I246S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S|MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)			60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)		ACAGGTGGGAATCTTGTTACT	0.488000																								0							SO:0001583	missense			ENST00000337774.5	1	1	hg19	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541866	0.45280	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.282017	0.39475	N	0.001342	T	0.57475	0.2056	L	0.47716	1.5	0.37569	D	0.919358	B;B;B;B;B	0.33345	0.062;0.001;0.387;0.409;0.023	B;B;B;B;B	0.35859	0.062;0.026;0.212;0.099;0.073	T	0.60281	-0.7294	10	0.27785	T	0.31	.	15.1457	0.72650	1.0:0.0:0.0:0.0	.	333;359;246;359;359	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	S	359;359;246;246;359;333	ENSP00000336792:I359S;ENSP00000296280:I359S;ENSP00000376264:I246S;ENSP00000169293:I359S;ENSP00000376262:I333S	ENSP00000169293:I359S	I	-	2	0	MASP1	188450747	0.979000	0.34478	0.941000	0.38009	0.983000	0.72400	5.135000	0.64777	2.174000	0.68829	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	1	0	1	143	765	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1	139	750	0	178	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MASP1	5648	broad.mit.edu	37	3	187009414	187009414	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187009414A>G	ENST00000337774.5	-	1	395		c.e1+1		MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Splice_Site	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)			60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)		CCTGGCACGTACCTCATTTTC	0.607000																								0							SO:0001630	splice_region_variant			ENST00000337774.5	1	1	hg19	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353985	0.41700	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392475	.	.	.	5.86	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2095	0.48790	0.8464:0.1536:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MASP1	188492108	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.105000	0.64591	1.020000	0.39573	0.460000	0.39030	.		TCGA-IB-7651-01A-11D-2154-08	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	0	0	1	73	385	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	73	376	0	98	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RTP4	64108	broad.mit.edu	37	3	187088613	187088613	+	Missense_Mutation	SNP	G	G	A	rs142974092	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187088613G>A	ENST00000259030.2	+	2	303	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4			11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)		TTGGGCTTCCGCCCAAGTGCA	0.552000																								0							SO:0001583	missense			ENST00000259030.2	1	1	hg19	CCDS33910.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.44	2.237428	0.39498	0.006128	2.33E-4	ENSG00000136514	ENST00000259030	T	0.24350	1.86	3.89	3.0	0.34707	.	0.167493	0.52532	D	0.000073	T	0.40473	0.1118	M	0.82823	2.61	0.21290	N	0.999739	D	0.89917	1.0	D	0.78314	0.991	T	0.19386	-1.0307	10	0.45353	T	0.12	-19.4826	8.8881	0.35416	0.0:0.0:0.7776:0.2224	.	65	Q96DX8	RTP4_HUMAN	T	65	ENSP00000259030:A65T	ENSP00000259030:A65T	A	+	1	0	RTP4	188571307	0.942000	0.31987	0.177000	0.23020	0.036000	0.12997	5.311000	0.65786	1.213000	0.43380	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	0	0	0	9	155	0	31	1	9.865795e-01	12	121	0	31	2		0	0	0	0	0	2	1	9.943115e-01	9	153	0	31	2								-3.306829	1	1	121402	59	49	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.680000	0.330000	1.000000	1.000000	0.699693	0.680000	0	4.800000e-01	9.600000e-01
SST	6750	broad.mit.edu	37	3	187386922	187386922	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386922C>T	ENST00000287641.3	-	2	389	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin			9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	Cysteamine(DB00847)	GTGCCATAGCCGGGTTTGAGT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000287641.3	1	1	hg19	CCDS3288.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	1	0	1	247	1044	0	296	0	1	0	322	0	296	2		0	0	0	0	0	2	1	1	242	1016	0	296	2								-20.000000	1	0	121412	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SST	6750	broad.mit.edu	37	3	187386950	187386950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386950T>G	ENST00000287641.3	-	2	361	c.254A>C	c.(253-255)gAg>gCg	p.E85A		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin			9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	Cysteamine(DB00847)	TCTCTGCAGCTCAAGCCTCAT	0.517000																								0							SO:0001583	missense			ENST00000287641.3	1	1	hg19	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344256	0.82022	.	.	ENSG00000157005	ENST00000287641	T	0.38887	1.11	5.51	5.51	0.81932	.	0.090474	0.85682	D	0.000000	T	0.66237	0.2769	M	0.79926	2.475	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.71234	-0.4653	10	0.72032	D	0.01	1.252	14.8038	0.69935	0.0:0.0:0.0:1.0	.	85	P61278	SMS_HUMAN	A	85	ENSP00000287641:E85A	ENSP00000287641:E85A	E	-	2	0	SST	188869644	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.698000	0.84413	2.092000	0.63282	0.254000	0.18369	GAG		TCGA-IB-7651-01A-11D-2154-08	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	1	0	1	307	1186	0	307	0	1	0	198	0	307	2		0	0	0	0	0	2	1	1	301	1155	0	307	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SST	6750	broad.mit.edu	37	3	187387999	187387999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187387999C>T	ENST00000287641.3	-	1	188	c.81G>A	c.(79-81)tcG>tcA	p.S27S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin			9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	Cysteamine(DB00847)	GTCTGGGGTCCGAGGGAGCGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000287641.3	1	1	hg19	CCDS3288.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	1	0	1	12	45	0	12	0	1	0	213	0	12	2		0	0	0	0	0	2	1	9.994662e-01	12	45	0	11	2								-11.167380	1	1	121102	1	20	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999496	0.990000	1	9.900000e-01	1
LPP	4026	broad.mit.edu	37	3	188327248	188327248	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188327248T>G	ENST00000312675.4	+	6	975	c.729T>G	c.(727-729)atT>atG	p.I243M	LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000543006.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma		HMGA2/LPP(161)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)			CAGGACAAATTTATGGCTCAG	0.542000			T	HMGA2, MLL, C12orf9	lipoma, leukemia										Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		L, M	0							SO:0001583	missense			ENST00000312675.4	1	1	hg19	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	T	6.607	0.480433	0.12581	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.55052	1.96;0.54;0.54;1.55	5.53	-7.67	0.01272	.	1.058050	0.07175	N	0.853006	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16571	-1.0398	10	0.32370	T	0.25	.	6.1723	0.20424	0.0646:0.2069:0.1644:0.5642	.	243;243	C9JUT4;Q93052	.;LPP_HUMAN	M	243;243;243;80	ENSP00000393602:I243M;ENSP00000318089:I243M;ENSP00000438891:I243M;ENSP00000393008:I80M	ENSP00000318089:I243M	I	+	3	3	LPP	189809942	0.000000	0.05858	0.003000	0.11579	0.708000	0.40852	-1.016000	0.03633	-1.366000	0.02155	-0.747000	0.03512	ATT		TCGA-IB-7651-01A-11D-2154-08	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	1	0	1	73	272	0	58	1	9.997778e-01	13	36	0	58	2		0	0	0	0	0	2	1	1	72	271	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPP	4026	broad.mit.edu	37	3	188584050	188584050	+	Silent	SNP	C	C	T	rs138205223	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188584050C>T	ENST00000312675.4	+	9	1719	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	LPP_ENST00000543006.1_Silent_p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma		HMGA2/LPP(161)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)			TCCGAGCCACCGGGAAGGCCT	0.562000			T	HMGA2, MLL, C12orf9	lipoma, leukemia										Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		L, M	0							SO:0001819	synonymous_variant			ENST00000312675.4	1	1	hg19	CCDS3291.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	1	0	1	53	349	0	77	1	9.994879e-01	10	66	0	77	2		0	0	0	0	0	2	1	1	49	342	0	76	2								-2.642190	1	1	121408	7	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
LPP	4026	broad.mit.edu	37	3	188590548	188590548	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188590548C>T	ENST00000312675.4	+	10	1953	c.1707C>T	c.(1705-1707)tgC>tgT	p.C569C	LPP_ENST00000543006.1_Silent_p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma		HMGA2/LPP(161)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)			GCTACCGATGCGAGGTCTGGT	0.522000			T	HMGA2, MLL, C12orf9	lipoma, leukemia										Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		L, M	0							SO:0001819	synonymous_variant			ENST00000312675.4	1	1	hg19	CCDS3291.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	1	0	0	53	172	0	25	1	9.999993e-01	22	51	0	25	2		0	0	0	0	0	2	1	1	52	170	0	24	2								-20.000000	1	1	121412	4	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPRG1	285386	broad.mit.edu	37	3	189028272	189028272	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189028272A>G	ENST00000345063.3	+	5	744	c.577A>G	c.(577-579)Act>Gct	p.T193A	TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1			16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)		TCCTTATGCTACTTTCACTGA	0.473000																								0							SO:0001583	missense			ENST00000345063.3	1	1	hg19	CCDS3292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.579318|4.579318	0.86645|0.86645	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000345063|ENST00000425670	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75715|0.75715	0.3887|0.3887	M|M	0.77486|0.77486	2.375|2.375	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.76658|0.76658	-0.2878|-0.2878	9|5	0.72032|.	D|.	0.01|.	-19.4379|-19.4379	15.0311|15.0311	0.71708|0.71708	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	193|.	Q6ZUI0|.	TPRG1_HUMAN|.	A|C	193|120	.|.	ENSP00000341031:T193A|.	T|Y	+|+	1|2	0|0	TPRG1|TPRG1	190510966|190510966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.976000|0.976000	0.68499|0.68499	6.849000|6.849000	0.75414|0.75414	2.240000|2.240000	0.73641|0.73641	0.477000|0.477000	0.44152|0.44152	ACT|TAC		TCGA-IB-7651-01A-11D-2154-08	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	0	0	1	75	391	1	82	1	8.096799e-01	6	12	1	82	2		0	0	0	0	0	2	1	1	73	387	1	82	19								-20.000000	1	1	121412	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349364G>T	ENST00000264731.3	+	1	149	c.60G>T	c.(58-60)caG>caT	p.Q20H	TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000392460.3_Missense_Mutation_p.Q20H|TP63_ENST00000320472.5_Missense_Mutation_p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63			61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)		CTTACATCCAGCGGTGAGTTT	0.403000										HNSCC(45;0.13)														0							SO:0001583	missense			ENST00000264731.3	1	1	hg19	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531329	0.27387	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99680	-6.0;-6.27;-6.23;-6.24;-6.0;-6.38	5.72	5.72	0.89469	.	0.411940	0.24076	N	0.041763	D	0.97763	0.9266	N	0.08118	0	0.80722	D	1	P;P;B;P	0.41848	0.763;0.523;0.34;0.523	B;B;B;B	0.41088	0.24;0.24;0.121;0.347	D	0.98181	1.0457	9	.	.	.	-6.671	12.2156	0.54404	0.0772:0.0:0.9228:0.0	.	20;20;20;20	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	H	20	ENSP00000264731:Q20H;ENSP00000407144:Q20H;ENSP00000317510:Q20H;ENSP00000376253:Q20H;ENSP00000394337:Q20H;ENSP00000371495:Q20H	.	Q	+	3	2	TP63	190832058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.350000	0.52224	2.695000	0.91970	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	1	0	1	112	615	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1	107	602	0	152	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LEPREL1	55214	broad.mit.edu	37	3	189702355	189702355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189702355G>A	ENST00000319332.5	-	7	1410	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1			41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATCCTGTCGTCCTCCATAT	0.313000																								0							SO:0001587	stop_gained			ENST00000319332.5	0	1	hg19	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	40	8.249713	0.98727	2.27E-4	0.0	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.87	4.0	0.46444	.	0.167866	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0519	14.1829	0.65586	0.0:0.0:0.7279:0.272	.	.	.	.	X	405;224	.	.	R	-	1	2	LEPREL1	191185049	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.045000	0.49838	1.477000	0.48234	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	0	0	1	50	239	1	110	1	9.420291e-01	2	23	1	110	2		0	0	0	0	0	2	1	1	50	235	1	110	11								-20.000000	1	1	121410	4	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL1RAP	3556	broad.mit.edu	37	3	190326890	190326890	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190326890T>C	ENST00000412504.2	+	4	709	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein			20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)		GTATATAGAATATGGCATTCA	0.378000																								0							SO:0001583	missense			ENST00000412504.2	1	1	hg19	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	T	1.520	-0.547035	0.04024	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	T;T;T;T;T;T;T;T;T	0.08984	5.29;4.99;5.29;5.29;5.29;3.22;3.03;3.22;4.99	5.58	-6.72	0.01755	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.236230	0.05267	N	0.516779	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.003;0.002	T	0.43686	-0.9376	10	0.19147	T	0.46	.	3.3556	0.07168	0.1005:0.3567:0.3054:0.2374	.	12;153;153;153	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;.;IL1AP_HUMAN;.	H	153;153;153;153;153;153;12;153;153	ENSP00000072516:Y153H;ENSP00000408893:Y153H;ENSP00000412053:Y153H;ENSP00000401132:Y153H;ENSP00000390541:Y153H;ENSP00000409352:Y153H;ENSP00000391899:Y12H;ENSP00000387371:Y153H;ENSP00000314807:Y153H	ENSP00000072516:Y153H	Y	+	1	0	IL1RAP	191809584	0.551000	0.26497	0.025000	0.17156	0.060000	0.15804	-0.245000	0.08890	-0.731000	0.04862	-0.263000	0.10527	TAT		TCGA-IB-7651-01A-11D-2154-08	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1	1	0	1	70	335	0	91	1	9.892006e-01	6	30	0	91	2		0	0	0	0	0	2	1	1	70	329	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL1RAP	3556	broad.mit.edu	37	3	190347219	190347219	+	Missense_Mutation	SNP	G	G	A	rs142111398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190347219G>A	ENST00000412504.2	+	8	1235	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein			20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)		GATCTCAAGCGCAGCTATGTC	0.418000																								0							SO:0001583	missense			ENST00000412504.2	1	1	hg19	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.560049|3.560049	0.65538|0.65538	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|T;T;T;T;T;T;T;T;T	.|0.14022	.|2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.7|5.7	4.83|4.83	0.62350|0.62350	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.117788	.|0.64402	.|N	.|0.000018	T|T	0.31199|0.31199	0.0789|0.0789	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.998;0.998;0.987;0.996	T|T	0.11131|0.11131	-1.0600|-1.0600	5|10	.|0.13853	.|T	.|0.58	.|.	12.3332|12.3332	0.55051|0.55051	0.0813:0.0:0.9187:0.0|0.0813:0.0:0.9187:0.0	.|.	.|187;328;328;328	.|C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.|.;.;IL1AP_HUMAN;.	T|H	165|328;328;328;328;328;328;187;328;328	.|ENSP00000072516:R328H;ENSP00000408893:R328H;ENSP00000412053:R328H;ENSP00000401132:R328H;ENSP00000390541:R328H;ENSP00000409352:R328H;ENSP00000391899:R187H;ENSP00000387371:R328H;ENSP00000314807:R328H	.|ENSP00000072516:R328H	A|R	+|+	1|2	0|0	IL1RAP|IL1RAP	191829913|191829913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.030000|3.030000	0.49720|0.49720	1.431000|1.431000	0.47355|0.47355	0.650000|0.650000	0.86243|0.86243	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1	1	0	1	34	125	0	31	1	9.998732e-01	11	44	0	31	2		0	0	0	0	0	2	1	1	32	125	0	31	2								-19.999370	1	1	121412	3	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGF12	2257	broad.mit.edu	37	3	191888348	191888348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:191888348C>T	ENST00000454309.2	-	4	1337	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	FGF12_ENST00000445105.2_Missense_Mutation_p.R109Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q|FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12			30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)		AAACCAAGCTCGGCCTGATTC	0.413000																								0							SO:0001583	missense			ENST00000454309.2	1	1	hg19	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276014	0.95459	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.84773	2.715	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92922	0.6356	10	0.87932	D	0	.	14.6881	0.69065	0.0:0.9307:0.0:0.0693	.	109;171	P61328-2;P61328	.;FGF12_HUMAN	Q	109;109;109;171;66;109;72;85	ENSP00000264730:R109Q;ENSP00000393686:R109Q;ENSP00000413496:R171Q;ENSP00000400948:R66Q;ENSP00000397635:R109Q;ENSP00000410125:R72Q;ENSP00000412904:R85Q	ENSP00000264730:R109Q	R	-	2	0	FGF12	193371042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	1.578000	0.49821	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	1	0	1	239	915	0	211	0	1.922953e-01	0	4	0	211	2		0	0	0	0	0	2	1	1	234	894	0	210	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRASLS	57110	broad.mit.edu	37	3	192973503	192973503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192973503G>A	ENST00000602513.1	+	2	473	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	HRASLS_ENST00000264735.2_Missense_Mutation_p.E127K			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor			10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)		GGACTTGATCGAAGTGTTCCG	0.478000																								0							SO:0001583	missense			ENST00000602513.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.302243	0.95601	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85977	0.1480	9	0.87932	D	0	-1.7689	18.5869	0.91192	0.0:0.0:1.0:0.0	.	22	Q9HDD0	HRSL1_HUMAN	K	22	.	ENSP00000264735:E22K	E	+	1	0	HRASLS	194456197	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.963000	0.93385	2.868000	0.98415	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	133	651	1	144	0	7.763843e-02	1	2	1	144	2		0	0	0	0	0	2	1	1	130	633	1	143	18								-20.000000	1	0	121410	1	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP13A5	344905	broad.mit.edu	37	3	193032832	193032832	+	Missense_Mutation	SNP	C	C	T	rs74478656	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193032832C>T	ENST00000342358.4	-	18	2204	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	ATP13A5_ENST00000495496.1_5'Flank|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5			76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)		TTTTTTCAAGCGATTCTCCAT	0.398000																								0							SO:0001583	missense			ENST00000342358.4	1	0	hg19	CCDS33914.1	11	0.005036630036630037	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	C	20.3	3.962327	0.74016	0.00227	0.008605	ENSG00000187527	ENST00000342358	T	0.70164	-0.46	5.56	4.68	0.58851	ATPase, cation-transporting, domain N (1);HAD-like domain (2);	0.000000	0.64402	D	0.000001	T	0.79540	0.4463	M	0.90145	3.09	0.47065	D	0.999304	D	0.89917	1.0	D	0.77557	0.99	D	0.84977	0.0886	10	0.66056	D	0.02	-8.1514	12.8157	0.57665	0.0:0.9201:0.0:0.0799	.	696	Q4VNC0	AT135_HUMAN	H	696	ENSP00000341942:R696H	ENSP00000341942:R696H	R	-	2	0	ATP13A5	194515526	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.735000	0.47377	1.503000	0.48686	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	0	0	1	115	488	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1	112	476	0	121	2								-2.383027	0	1	121412	539	62	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP13A5	344905	broad.mit.edu	37	3	193036817	193036817	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036817T>C	ENST00000342358.4	-	17	2113	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5			76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)		TTCCCCATCTTTAAGGTTTTG	0.498000																								0							SO:0001583	missense			ENST00000342358.4	1	1	hg19	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.678550	0.00751	.	.	ENSG00000187527	ENST00000342358	T	0.69561	-0.41	5.89	5.89	0.94794	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.607321	0.17170	N	0.184335	T	0.35038	0.0918	N	0.02296	-0.605	0.09310	N	0.999996	B	0.06786	0.001	B	0.11329	0.006	T	0.27938	-1.0059	10	0.02654	T	1	-2.4489	8.7358	0.34528	0.0:0.0835:0.0:0.9165	.	666	Q4VNC0	AT135_HUMAN	E	666	ENSP00000341942:K666E	ENSP00000341942:K666E	K	-	1	0	ATP13A5	194519511	0.372000	0.25064	0.047000	0.18901	0.004000	0.04260	1.395000	0.34520	2.251000	0.74343	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	1	0	1	129	549	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	123	543	0	147	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP13A5	344905	broad.mit.edu	37	3	193036890	193036890	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036890C>A	ENST00000342358.4	-	17	2040	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5			76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)		GTGGGAAATTCTTGGGCACTG	0.483000																								0							SO:0001583	missense			ENST00000342358.4	1	1	hg19	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	6.096	0.385934	0.11524	.	.	ENSG00000187527	ENST00000342358	T	0.70869	-0.52	5.73	1.42	0.22433	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.269670	0.05084	N	0.484003	T	0.55878	0.1948	N	0.25647	0.755	0.22745	N	0.99878	B	0.27264	0.173	B	0.29440	0.102	T	0.39187	-0.9626	10	0.20046	T	0.44	-5.0747	4.883	0.13688	0.0:0.563:0.1789:0.2581	.	641	Q4VNC0	AT135_HUMAN	N	641	ENSP00000341942:K641N	ENSP00000341942:K641N	K	-	3	2	ATP13A5	194519584	0.001000	0.12720	0.848000	0.33437	0.524000	0.34500	-0.266000	0.08631	0.255000	0.21593	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	1	0	1	142	539	0	186		0	0	0	0	186	2		0	0	0	0	0	2	1	1	139	534	0	185	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP13A5	344905	broad.mit.edu	37	3	193096461	193096461	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193096461C>A	ENST00000342358.4	-	1	171	c.54G>T	c.(52-54)gaG>gaT	p.E18D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5			76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)		CCAGTTCATCCTCCTCTCCCT	0.463000																								0							SO:0001583	missense			ENST00000342358.4	1	1	hg19	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567558	0.45694	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.51071	2.2;0.72	4.94	3.98	0.46160	.	0.000000	0.56097	D	0.000028	T	0.30386	0.0763	N	0.25380	0.74	0.33589	D	0.600871	B	0.24618	0.107	B	0.27262	0.078	T	0.26258	-1.0108	10	0.10111	T	0.7	-11.1331	9.829	0.40930	0.2044:0.7956:0.0:0.0	.	18	Q4VNC0	AT135_HUMAN	D	18	ENSP00000341942:E18D;ENSP00000389416:E18D	ENSP00000341942:E18D	E	-	3	2	ATP13A5	194579155	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	0.244000	0.18124	2.678000	0.91216	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	1	0	1	122	535	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	121	527	0	121	2								-3.166262	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP13A4	84239	broad.mit.edu	37	3	193166086	193166086	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166086C>T	ENST00000342695.4	-	18	2383	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	ATP13A4_ENST00000392443.3_Silent_p.G668G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4			71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)		AGATCAGCAGCCCCAGAAATA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000342695.4	1	1	hg19	CCDS3304.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	1	0	1	70	368	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	70	355	0	76	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP13A4	84239	broad.mit.edu	37	3	193171892	193171892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193171892C>T	ENST00000342695.4	-	17	2347	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	ATP13A4_ENST00000392443.3_Silent_p.T656T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4			71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)		CCATTTACCTCGTCAAGGTAG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000342695.4	1	1	hg19	CCDS3304.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	1	0	1	64	220	0	55	0	5.226481e-02	0	2	0	55	2		0	0	0	0	0	2	1	1	63	215	0	54	2								-4.015653	1	1	121412	3	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH8	131096	broad.mit.edu	37	3	19389273	19389273	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19389273G>A	ENST00000328405.2	+	5	893	c.627G>A	c.(625-627)aaG>aaA	p.K209K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	p.K209K(1)		77					ATGCAAAAAAGTCCAAATTCA	0.373000													NSCLC(124;1625 1765 8018 24930 42026)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000328405.2	1	1	hg19	CCDS2632.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	1	0	0	136	500	0	85	1	1.182998e-01	3	0	0	85	2		0	0	0	0	0	2	1	1	134	493	1	84	23								-20.000000	1	1	121404	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPN2	1370	broad.mit.edu	37	3	194061981	194061981	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194061981C>A	ENST00000323830.3	-	2	1540	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2			27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)		CTCGGGGTTGCTGTAGGTGCA	0.662000																								0							SO:0001583	missense			ENST00000323830.3	1	1	hg19	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316294	0.60524	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.56941	0.43;0.43	5.41	5.41	0.78517	.	0.171304	0.28247	N	0.016057	T	0.41213	0.1149	L	0.27053	0.805	0.30440	N	0.77626	P	0.49961	0.93	P	0.44732	0.459	T	0.50634	-0.8805	10	0.62326	D	0.03	.	8.2362	0.31627	0.0:0.758:0.1589:0.0831	.	484	P22792	CPN2_HUMAN	I	484	ENSP00000319464:S484I;ENSP00000402232:S484I	ENSP00000319464:S484I	S	-	2	0	CPN2	195543676	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.647000	0.24812	2.702000	0.92279	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	0	0	0	71	298	1	51		0	0	0	1	51	2		0	0	0	0	0	2	1	1	70	296	1	50	22								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GP5	2814	broad.mit.edu	37	3	194117894	194117894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194117894T>C	ENST00000401815.1	-	1	1189	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S	GP5_ENST00000323007.3_Missense_Mutation_p.N373S			P40197	GPV_HUMAN	glycoprotein V (platelet)			35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)		GCGCAGCCTGTTGCGGCGCAG	0.711000																								0							SO:0001583	missense			ENST00000401815.1	0	1	hg19	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145584	0.37923	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.72615	-0.67;-0.67	4.19	1.64	0.23874	.	0.148584	0.31358	N	0.007783	T	0.76011	0.3928	M	0.92738	3.34	0.20873	N	0.999839	P	0.48834	0.916	P	0.45681	0.49	T	0.69548	-0.5116	10	0.56958	D	0.05	.	7.2592	0.26193	0.0:0.0764:0.2703:0.6533	.	373	P40197	GPV_HUMAN	S	373	ENSP00000383931:N373S;ENSP00000319286:N373S	ENSP00000319286:N373S	N	-	2	0	GP5	195599183	0.997000	0.39634	0.183000	0.23137	0.335000	0.28730	1.930000	0.40124	0.204000	0.20548	-0.478000	0.04885	AAC		TCGA-IB-7651-01A-11D-2154-08	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	1	0	1	12	56	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.994122e-01	12	56	0	14	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998645	0.990000	1	9.900000e-01	1
GP5	2814	broad.mit.edu	37	3	194118727	194118727	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118727A>G	ENST00000401815.1	-	1	356	c.285T>C	c.(283-285)agT>agC	p.S95S	GP5_ENST00000323007.3_Silent_p.S95S			P40197	GPV_HUMAN	glycoprotein V (platelet)			35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)		TTATCAGGTCACTGAAGGTGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000401815.1	1	1	hg19	CCDS3307.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	1	0	0	91	521	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	91	515	0	119	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GP5	2814	broad.mit.edu	37	3	194118876	194118876	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118876G>T	ENST00000401815.1	-	1	207	c.136C>A	c.(136-138)Cta>Ata	p.L46I	GP5_ENST00000323007.3_Missense_Mutation_p.L46I			P40197	GPV_HUMAN	glycoprotein V (platelet)			35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)		GGCAGGCCTAGCGCGGAGATG	0.697000																								0							SO:0001583	missense			ENST00000401815.1	1	1	hg19	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292667	0.40594	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.42131	0.98;0.98	4.72	2.91	0.33838	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.31495	N	0.007541	T	0.43299	0.1241	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.66084	0.941	T	0.18085	-1.0348	10	0.21014	T	0.42	.	8.376	0.32442	0.2441:0.0:0.7559:0.0	.	46	P40197	GPV_HUMAN	I	46	ENSP00000383931:L46I;ENSP00000319286:L46I	ENSP00000319286:L46I	L	-	1	2	GP5	195600165	0.002000	0.14202	0.099000	0.21106	0.162000	0.22319	0.483000	0.22292	1.290000	0.44636	0.561000	0.74099	CTA		TCGA-IB-7651-01A-11D-2154-08	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	1	0	1	71	353	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	70	347	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAP2	23527	broad.mit.edu	37	3	195013054	195013054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195013054G>A	ENST00000326793.6	-	19	2123	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2			27					CCCAGTTCACGTCTGCACCAT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000326793.6	1	1	hg19	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	5.192	0.220917	0.09863	.	.	ENSG00000114331	ENST00000450200	.	.	.	5.43	-1.23	0.09465	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	.	5.4496	0.16556	0.5395:0.0:0.2902:0.1702	.	.	.	.	C	225	.	.	R	-	1	0	ACAP2	196494343	0.926000	0.31397	0.997000	0.53966	0.731000	0.41821	0.075000	0.14686	-0.150000	0.11195	-2.006000	0.00442	CGT		TCGA-IB-7651-01A-11D-2154-08	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	1	0	1	99	498	0	104	1	9.999993e-01	27	75	0	104	2		0	0	0	0	0	2	1	1	96	489	0	104	2								-20.000000	1	1	121412	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAP2	23527	broad.mit.edu	37	3	195022900	195022900	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195022900G>A	ENST00000326793.6	-	14	1350	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2			27					TTCTTATCCAGCTTCTAAAAG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000326793.6	1	1	hg19	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	7.774	0.708055	0.15239	.	.	ENSG00000114331	ENST00000439758	.	.	.	5.65	4.76	0.60689	.	.	.	.	.	T	0.60689	0.2288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58752	-0.7581	4	.	.	.	.	9.7794	0.40639	0.0746:0.1394:0.786:0.0	.	.	.	.	V	248	.	.	A	-	2	0	ACAP2	196504189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.765000	0.68834	1.357000	0.45904	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	0	0	0	28	738	0	124	0	7.527469e-01	0	73	0	124	2		0	0	0	0	0	2	1	1	25	722	0	124	2								-3.784638	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.440000	0.290000	1.000000	0.430000	0.475124	0.440000	0	3.600000e-01	5.500000e-01
MUC4	4585	broad.mit.edu	37	3	195486010	195486010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195486010C>T	ENST00000346145.4	-	16	2302	c.2263G>A	c.(2263-2265)Gac>Aac	p.D755N	MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N|MUC4_ENST00000463781.3_Missense_Mutation_p.D4991N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated			51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)		AGCTCCAAGTCGGTGCAGCTG	0.532000																								0							SO:0001583	missense			ENST00000346145.4	1	1	hg19	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	9.154	1.017007	0.19355	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38560	1.13;1.49;1.48;1.45	4.39	1.54	0.23209	.	1.090690	0.07014	N	0.825628	T	0.32041	0.0816	L	0.52364	1.645	0.09310	N	1	P;P;P;P;P;P	0.49253	0.663;0.469;0.469;0.58;0.58;0.921	B;B;B;B;B;B	0.39217	0.153;0.069;0.069;0.056;0.056;0.294	T	0.24225	-1.0166	10	0.34782	T	0.22	-8.7228	3.1604	0.06518	0.2124:0.5678:0.0:0.2198	.	4863;704;755;4991;4939;1696	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	N	704;755;4991;4939;1491	ENSP00000338109:D704N;ENSP00000304207:D755N;ENSP00000417498:D4991N;ENSP00000420243:D4939N	ENSP00000304207:D755N	D	-	1	0	MUC4	196971681	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.222000	0.17699	0.571000	0.29365	0.450000	0.29827	GAC		TCGA-IB-7651-01A-11D-2154-08	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	1	0	1	280	1208	0	333	1	4.620258e-01	5	3	0	333	2		0	0	0	0	0	2	1	1	270	1182	0	333	2								-20.000000	1	1	121412	1	36	1	0	0	0	1.946969	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC4	4585	broad.mit.edu	37	3	195487809	195487809	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195487809C>T	ENST00000346145.4	-	15	2125	c.2086G>A	c.(2086-2088)Gga>Aga	p.G696R	MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R|MUC4_ENST00000463781.3_Missense_Mutation_p.G4932R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated			51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)		GTGTGAAGTCCGATGCTTGCG	0.552000																								0							SO:0001583	missense			ENST00000346145.4	1	1	hg19	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.765484	0.49574	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.61040	0.14;0.5;0.36;0.35	4.98	4.98	0.66077	.	0.000000	0.51477	D	0.000100	T	0.74772	0.3760	M	0.72894	2.215	0.29535	N	0.852531	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.991;0.995;0.999;0.999;0.998	T	0.73512	-0.3959	10	0.87932	D	0	-12.1818	15.4417	0.75187	0.0:1.0:0.0:0.0	.	4804;645;696;4932;4880;1637	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	R	645;696;4932;4880;1432	ENSP00000338109:G645R;ENSP00000304207:G696R;ENSP00000417498:G4932R;ENSP00000420243:G4880R	ENSP00000304207:G696R	G	-	1	0	MUC4	196973480	0.131000	0.22433	0.062000	0.19696	0.017000	0.09413	2.220000	0.42908	2.333000	0.79357	0.556000	0.70494	GGA		TCGA-IB-7651-01A-11D-2154-08	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	1	0	1	92	357	0	94	1	8.887251e-01	12	5	0	94	2		0	0	0	0	0	2	1	1	88	349	0	94	2								-3.110554	1	1	121412	4	37	1	0	0	0	1.946969	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC4	4585	broad.mit.edu	37	3	195515849	195515849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195515849C>T	ENST00000463781.3	-	2	3061	c.2602G>A	c.(2602-2604)Gtc>Atc	p.V868I	MUC4_ENST00000475231.1_Missense_Mutation_p.V868I|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated			51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)		GTGCCGGGGACGATCGAAGAC	0.592000																								0							SO:0001583	missense			ENST00000463781.3	1	1	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	7.090	0.572023	0.13623	0.0	1.19E-4	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.43294	0.95;0.97	2.78	-2.37	0.06643	.	7.098020	0.00166	N	0.000007	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	P;B	0.35011	0.48;0.313	B;B	0.21151	0.033;0.011	T	0.04413	-1.0953	10	0.38643	T	0.18	-0.0129	0.5162	0.00604	0.1795:0.2872:0.1764:0.3569	.	868;873	E7ESK3;Q99102	.;MUC4_HUMAN	I	868;868;842	ENSP00000417498:V868I;ENSP00000420243:V868I	ENSP00000376209:V842I	V	-	1	0	MUC4	197000244	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-3.563000	0.00430	-0.661000	0.05345	0.579000	0.79373	GTC		TCGA-IB-7651-01A-11D-2154-08	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	1	0	1	25	137	0	37	1	1.229272e-01	4	0	0	37	2		0	0	0	0	0	2	1	9.999999e-01	25	134	0	36	2								-14.355090	1	1	121068	5	33	1	0	0	0	1.946969	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999540	0.990000	1	9.900000e-01	1
MUC4	4585	broad.mit.edu	37	3	195516521	195516521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195516521G>A	ENST00000463781.3	-	2	2389	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q644*|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated			51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)		TGTGTGGTCTGCGGGGCTTGA	0.527000																								0							SO:0001587	stop_gained			ENST00000463781.3	0	1	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	24.6	4.545486	0.86022	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	2.85	-3.41	0.04839	.	4.474510	0.00597	N	0.000360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	1.7516	9.6298	0.39772	0.0:0.6311:0.2212:0.1476	.	.	.	.	X	644;644;618	.	ENSP00000376209:Q618X	Q	-	1	0	MUC4	197000916	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.088000	0.03379	-0.837000	0.04223	-0.184000	0.12912	CAG		TCGA-IB-7651-01A-11D-2154-08	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	1	0	1	151	715	0	168	1	2.130379e-01	5	0	0	168	2		0	0	0	0	0	2	1	1	149	689	0	166	2								-20.000000	1	1	0	0		1	0	0	0	1.946969	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC4	4585	broad.mit.edu	37	3	195517585	195517585	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195517585A>G	ENST00000463781.3	-	2	1325	c.866T>C	c.(865-867)cTt>cCt	p.L289P	MUC4_ENST00000475231.1_Missense_Mutation_p.L289P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated			51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)		GACTGGCATAAGACTTCCAGT	0.458000																								0							SO:0001583	missense			ENST00000463781.3	1	1	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.264	-0.150552	0.06585	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.36520	1.25;1.25	2.84	-1.15	0.09709	.	.	.	.	.	T	0.22205	0.0535	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.001	B;B	0.20767	0.031;0.004	T	0.27331	-1.0077	9	0.25106	T	0.35	.	6.2536	0.20861	0.4505:0.0:0.5495:0.0	.	289;294	E7ESK3;Q99102	.;MUC4_HUMAN	P	289;289;263	ENSP00000417498:L289P;ENSP00000420243:L289P	ENSP00000376209:L263P	L	-	2	0	MUC4	197001980	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.104000	0.03326	-0.195000	0.10382	0.436000	0.28706	CTT		TCGA-IB-7651-01A-11D-2154-08	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	1	0	1	83	296	0	77	1	3.945193e-01	5	1	0	77	2		0	0	0	0	0	2	1	1	83	289	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.946969	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNK2	10188	broad.mit.edu	37	3	195593780	195593780	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593780G>A	ENST00000333602.6	-	14	3707	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000392400.1_Silent_p.S1030S|TNK2_ENST00000381916.2_Silent_p.S1078S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2			29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	Adenosine triphosphate(DB00171)	CAGGGCCCCAGGAGCCCAGAA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000333602.6	0	1	hg19	CCDS33928.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	1	0	1	13	90	0	17	1	9.999923e-01	66	103	0	17	2		0	0	0	0	0	2	1	9.996529e-01	13	90	0	17	2								-19.987850	1	0	0	0		1	0	0	0	1.946969	0	0.170000	2.060000	1.467928e-01	0.990000	0.790000	1.000000	1.000000	0.984568	0.990000	1	9.900000e-01	1
TNK2	10188	broad.mit.edu	37	3	195593856	195593856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593856G>T	ENST00000333602.6	-	14	3631	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2			29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	Adenosine triphosphate(DB00171)	CTCCCCTCTGGGCCGCAGACC	0.677000																								0							SO:0001583	missense			ENST00000333602.6	1	1	hg19	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181629	0.57800	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.74947	-0.82;-0.89;2.94;-0.87;-0.82	5.85	5.85	0.93711	.	0.114465	0.64402	D	0.000013	T	0.81541	0.4844	L	0.36672	1.1	0.80722	D	1	P;D;D;D	0.89917	0.947;0.999;0.976;1.0	P;P;P;D	0.70487	0.628;0.855;0.628;0.969	T	0.82436	-0.0458	10	0.72032	D	0.01	.	18.7512	0.91816	0.0:0.0:1.0:0.0	.	1005;1053;1007;532	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	H	1005;1053;574;1007;1005	ENSP00000329425:P1005H;ENSP00000371341:P1053H;ENSP00000398614:P574H;ENSP00000392546:P1007H;ENSP00000376201:P1005H	ENSP00000329425:P1005H	P	-	2	0	TNK2	197078253	1.000000	0.71417	0.987000	0.45799	0.639000	0.38242	4.289000	0.59013	2.768000	0.95171	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	0	0	0	8	204	0	25	1	9.754894e-01	5	164	0	25	2		0	0	0	0	0	2	1	9.887228e-01	8	199	0	25	2								-10.201650	1	0	0	0		1	0	0	0	1.946969	0	0.170000	2.060000	1.467928e-01	0.440000	0.210000	0.780000	0.420000	0.468008	0.440000	0	3.100000e-01	6.100000e-01
TM4SF19	116211	broad.mit.edu	37	3	196050725	196050725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196050725C>A	ENST00000273695.3	-	5	718	c.593G>T	c.(592-594)aGc>aTc	p.S198I	TM4SF19_ENST00000442633.1_Missense_Mutation_p.S198I|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000446879.1_Missense_Mutation_p.A197S|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000444939.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19			12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		GCCCAGGAGGCTGTTGATGAC	0.547000																								0							SO:0001583	missense			ENST00000273695.3	1	1	hg19	CCDS3316.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.9|21.9|21.9	4.218752|4.218752|4.218752	0.79464|0.79464|0.79464	.|.|.	.|.|.	ENSG00000145107|ENSG00000145107|ENSG00000145107	ENST00000446879|ENST00000440822|ENST00000454715;ENST00000273695	T|.|T;T	0.26660|.|0.32753	1.72|.|1.44;1.44	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|.|.	.|.|0.148706	.|.|0.48767	.|.|D	.|.|0.000169	T|T|T	0.51618|0.51618|0.51618	0.1685|0.1685|0.1685	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.40063|0.40063|0.40063	D|D|D	0.975928|0.975928|0.975928	D|.|D;D	0.76494|.|0.69078	0.999|.|0.997;0.968	D|.|D;P	0.78314|.|0.68621	0.991|.|0.959;0.713	T|T|T	0.55166|0.55166|0.55166	-0.8183|-0.8183|-0.8183	9|5|10	0.15952|.|0.87932	T|.|D	0.53|.|0	-0.2669|-0.2669|-0.2669	14.4827|14.4827|14.4827	0.67594|0.67594|0.67594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	197|.|172;198	C9JCD5|.|E9PH22;Q96DZ7	.|.|.;T4S19_HUMAN	S|H|I	197|64|172;198	ENSP00000395280:A197S|.|ENSP00000387728:S172I;ENSP00000273695:S198I	ENSP00000395280:A197S|.|ENSP00000273695:S198I	A|Q|S	-|-|-	1|3|2	0|2|0	TM4SF19|TM4SF19|TM4SF19	197535122|197535122|197535122	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.943000|0.943000|0.943000	0.58893|0.58893|0.58893	2.774000|2.774000|2.774000	0.47694|0.47694|0.47694	2.485000|2.485000|2.485000	0.83878|0.83878|0.83878	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	1	0	0	19	351	0	66	0	5.219083e-02	1	6	0	66	2		0	0	0	0	0	2	1	9.999887e-01	19	340	0	66	2								-19.858930	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.630000	0.390000	1.000000	0.610000	0.672730	0.630000	0	5.000000e-01	8.700000e-01
RNF168	165918	broad.mit.edu	37	3	196214437	196214437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196214437G>A	ENST00000318037.3	-	3	985	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase			20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		CTGGCCCGTCGCTCTGCCGCC	0.398000																								0							SO:0001587	stop_gained			ENST00000318037.3	0	1	hg19	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	42	9.202635	0.99099	0.0	1.16E-4	ENSG00000163961	ENST00000318037	.	.	.	5.41	2.65	0.31530	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2389	4.4813	0.11767	0.1398:0.1235:0.6091:0.1275	.	.	.	.	X	131	.	ENSP00000320898:R131X	R	-	1	2	RNF168	197698834	1.000000	0.71417	0.991000	0.47740	0.795000	0.44927	2.102000	0.41796	0.409000	0.25649	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	0	0	0	100	418	1	78	1	9.951090e-01	8	55	1	78	5		0	0	0	0	0	2	1	1	96	408	2	77	29								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO45	200933	broad.mit.edu	37	3	196304505	196304505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196304505C>T	ENST00000311630.6	+	2	797	c.500C>T	c.(499-501)aCt>aTt	p.T167I	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45			7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		CCTCTGGGCACTGTGGCAGTG	0.577000																								0							SO:0001583	missense			ENST00000311630.6	1	1	hg19	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688765	0.88639	.	.	ENSG00000174013	ENST00000311630	T	0.60424	0.19	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.098281	0.64402	D	0.000001	D	0.82655	0.5084	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87388	0.2361	10	0.87932	D	0	-20.9781	18.4427	0.90673	0.0:1.0:0.0:0.0	.	167	P0C2W1	FBSP1_HUMAN	I	167	ENSP00000310332:T167I	ENSP00000310332:T167I	T	+	2	0	FBXO45	197788902	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.099000	0.76981	2.608000	0.88229	0.456000	0.33151	ACT		TCGA-IB-7651-01A-11D-2154-08	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2	1	0	1	23	99	0	21	1	9.987846e-01	10	40	0	21	2		0	0	0	0	0	2	1	9.999997e-01	23	97	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
PAK2	5062	broad.mit.edu	37	3	196509633	196509633	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196509633C>A	ENST00000327134.3	+	2	438	c.116C>A	c.(115-117)cCt>cAt	p.P39H	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2			12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		AGTTTGAAACCTTTGCCCTCT	0.473000																								0							SO:0001583	missense			ENST00000327134.3	1	1	hg19	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430706	0.83776	.	.	ENSG00000180370	ENST00000327134	T	0.72505	-0.66	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85194	0.1011	10	0.87932	D	0	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	39	Q13177	PAK2_HUMAN	H	39	ENSP00000314067:P39H	ENSP00000314067:P39H	P	+	2	0	PAK2	197994030	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.228000	0.78079	2.456000	0.83038	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	1	0	0	50	1085	0	216	1	9.969398e-01	7	180	0	216	2		0	0	0	0	0	2	1	1	48	1061	0	214	2								-3.124967	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.530000	0.390000	1.000000	0.520000	0.584087	0.530000	0	4.500000e-01	6.500000e-01
PAK2	5062	broad.mit.edu	37	3	196541366	196541366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196541366C>A	ENST00000327134.3	+	11	1302	c.980C>A	c.(979-981)gCt>gAt	p.A327D		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2			12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		GAATACCTTGCTGGGGGGTCA	0.413000																								0							SO:0001583	missense			ENST00000327134.3	1	1	hg19	CCDS3321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.038673|3.038673	0.55003|0.55003	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000327134|ENST00000426668	T|.	0.12672|.	2.66|.	5.85|5.85	4.97|4.97	0.65823|0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.046739|.	0.85682|.	N|.	0.000000|.	T|T	0.45518|0.45518	0.1346|0.1346	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	P|.	0.37500|.	0.597|.	B|.	0.35899|.	0.213|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|5	0.33141|.	T|.	0.24|.	.|.	16.3062|16.3062	0.82849|0.82849	0.1334:0.8666:0.0:0.0|0.1334:0.8666:0.0:0.0	.|.	327|.	Q13177|.	PAK2_HUMAN|.	D|M	327|70	ENSP00000314067:A327D|.	ENSP00000314067:A327D|.	A|L	+|+	2|1	0|2	PAK2|PAK2	198025763|198025763	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.928000|0.928000	0.56348|0.56348	7.463000|7.463000	0.80869|0.80869	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	1	0	1	150	642	0	163	1	1	76	199	0	163	2		0	0	0	0	0	2	1	1	147	624	0	163	2								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP5	205564	broad.mit.edu	37	3	196613102	196613102	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196613102C>A	ENST00000323460.5	+	2	1299	c.1050C>A	c.(1048-1050)ggC>ggA	p.G350G	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.G350G	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5			32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		AACAGAATGGCAGTGCCACAA	0.488000													Ovarian(47;891 1095 11174 13858 51271)											0							SO:0001819	synonymous_variant			ENST00000323460.5	1	1	hg19	CCDS3322.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	1	0	0	18	256	0	66	1	7.392809e-01	3	36	0	66	2		0	0	0	0	0	2	1	9.999834e-01	18	254	0	65	2								-19.989940	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.810000	0.490000	1.000000	1.000000	0.814184	0.810000	0	6.300000e-01	1
NCBP2	22916	broad.mit.edu	37	3	196666195	196666195	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196666195T>G	ENST00000321256.5	-	2	280	c.187A>C	c.(187-189)Agt>Cgt	p.S63R	NCBP2_ENST00000447325.1_5'UTR|NCBP2_ENST00000467803.1_5'Flank|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000427641.2_Intron|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000422610.1_5'UTR	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa			5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		ATGTCACCACTTTTGCTGAAG	0.338000																								0							SO:0001583	missense			ENST00000321256.5	1	1	hg19	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747173	0.69418	.	.	ENSG00000114503	ENST00000321256;ENST00000452404	T;T	0.74315	-0.83;-0.83	5.6	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.077733	0.85682	D	0.000000	T	0.79118	0.4392	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70487	0.964;0.953;0.969	T	0.80462	-0.1372	10	0.87932	D	0	.	12.4287	0.55561	0.0:0.0:0.1403:0.8597	.	45;82;63	P52298-2;Q7Z3W9;P52298	.;.;NCBP2_HUMAN	R	63;45	ENSP00000326806:S63R;ENSP00000412785:S45R	ENSP00000326806:S63R	S	-	1	0	NCBP2	198150592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.863000	0.39459	1.048000	0.40298	0.459000	0.35465	AGT		TCGA-IB-7651-01A-11D-2154-08	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	1	0	1	61	273	0	82	1	1	96	238	0	82	2		0	0	0	0	0	2	1	1	60	269	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIGZ	80235	broad.mit.edu	37	3	196678897	196678897	+	Silent	SNP	C	C	T	rs139328732		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196678897C>T	ENST00000412723.1	-	2	152	c.6G>A	c.(4-6)caG>caA	p.Q2Q	PIGZ_ENST00000443835.1_Silent_p.Q2Q	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z			14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		ATCCACAGATCTGCATCTGTT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000412723.1	1	1	hg19	CCDS3324.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	1	0	0	26	92	0	25	1	6.840883e-01	3	7	0	25	2		0	0	0	0	0	2	1	1	26	92	0	23	2								-20.000000	1	0	121408	2	29	1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DLG1	1739	broad.mit.edu	37	3	196921409	196921409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196921409G>A	ENST00000419354.1	-	5	656	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000346964.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)			26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		TTTGTGATTTGTGGGGAAATA	0.363000																								0							SO:0001587	stop_gained			ENST00000419354.1	0	1	hg19	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192244	0.58017	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	.	.	.	5.17	4.2	0.49525	.	0.370524	0.28214	N	0.016163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	15.5045	0.75728	0.0:0.0:0.8523:0.1477	.	.	.	.	X	124;124;124;124;124;124;124;124;124;124;28;124;124;124	.	ENSP00000321087:Q124X	Q	-	1	0	DLG1	198405806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.372000	0.59530	2.413000	0.81919	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	1	0	0	40	232	0	44	1	9.998499e-01	7	73	0	44	2		0	0	0	0	0	2	1	1	39	230	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
BDH1	622	broad.mit.edu	37	3	197241204	197241204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197241204C>T	ENST00000392378.2	-	6	803	c.493G>A	c.(493-495)Gca>Aca	p.A165T	BDH1_ENST00000392379.1_Missense_Mutation_p.A165T|BDH1_ENST00000441275.1_Missense_Mutation_p.A78T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1			11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)		TTCACTTCTGCCACCTGCTTG	0.592000																								0							SO:0001583	missense			ENST00000392378.2	1	1	hg19	CCDS3328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.541301|4.541301	0.85917|0.85917	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819|ENST00000455876	D;D;D;D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26|.	5.02|5.02	5.02|5.02	0.67125|0.67125	NAD(P)-binding domain (1);|.	0.055371|.	0.64402|.	D|.	0.000001|.	T|.	0.52837|.	0.1759|.	N|N	0.20986|0.20986	0.625|0.625	0.53688|0.53688	D|D	0.999971|0.999971	P|.	0.46859|.	0.885|.	P|.	0.51297|.	0.665|.	T|.	0.48043|.	-0.9069|.	10|.	0.26408|.	T|.	0.33|.	.|.	16.2301|16.2301	0.82332|0.82332	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	165|.	Q02338|.	BDH_HUMAN|.	T|X	165;165;165;78;78;146;165|21	ENSP00000376183:A165T;ENSP00000350914:A165T;ENSP00000376184:A165T;ENSP00000411014:A78T;ENSP00000387648:A78T;ENSP00000408685:A146T;ENSP00000409849:A165T|.	ENSP00000350914:A165T|.	A|W	-|-	1|3	0|0	BDH1|BDH1	198725601|198725601	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	6.096000|6.096000	0.71446|0.71446	2.509000|2.509000	0.84616|0.84616	0.555000|0.555000	0.69702|0.69702	GCA|TGG		TCGA-IB-7651-01A-11D-2154-08	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	1	0	0	36	336	0	89	1	7.514679e-01	3	24	0	89	2		0	0	0	0	0	2	1	1	36	332	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.830000	1.000000	1.000000	0.985781	0.990000	1	9.900000e-01	1
KIAA0226	9711	broad.mit.edu	37	3	197401903	197401903	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197401903G>T	ENST00000296343.5	-	20	2904	c.2905C>A	c.(2905-2907)Ctg>Atg	p.L969M	KIAA0226_ENST00000273582.5_Missense_Mutation_p.L924M|MIR922_ENST00000401223.1_RNA	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226			31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		GTGGCCTCCAGGACGGCGGCT	0.677000													Esophageal Squamous(3;167 355 3763 15924)											0							SO:0001583	missense			ENST00000296343.5	1	1	hg19	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.564|8.564	0.878353|0.878353	0.17395|0.17395	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343|ENST00000413360	.|.	.|.	.|.	5.32|5.32	0.165|0.165	0.14995|0.14995	.|.	0.577690|.	0.14919|.	N|.	0.290777|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.9999|0.9999	P;P|.	0.45176|.	0.852;0.622|.	P;B|.	0.48400|.	0.576;0.372|.	T|T	0.28038|0.28038	-1.0056|-1.0056	9|5	0.72032|.	D|.	0.01|.	.|.	5.3615|5.3615	0.16091|0.16091	0.3426:0.1396:0.5179:0.0|0.3426:0.1396:0.5179:0.0	.|.	924;969|.	Q92622-2;Q92622|.	.;RUBIC_HUMAN|.	M|H	924;969|930	.|.	ENSP00000273582:L924M|.	L|P	-|-	1|2	2|0	KIAA0226|KIAA0226	198886300|198886300	0.637000|0.637000	0.27216|0.27216	0.071000|0.071000	0.20095|0.20095	0.216000|0.216000	0.24613|0.24613	0.920000|0.920000	0.28705|0.28705	0.032000|0.032000	0.15435|0.15435	0.591000|0.591000	0.81541|0.81541	CTG|CCT		TCGA-IB-7651-01A-11D-2154-08	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1	77	386	0	63	1	8.839049e-01	6	15	0	63	2		0	0	0	0	0	2	1	1	77	381	0	63	2								-3.334569	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0226	9711	broad.mit.edu	37	3	197408002	197408002	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408002G>A	ENST00000296343.5	-	16	2427	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R765W	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226			31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		GGTCTTACCCGGACTTGATTG	0.562000													Esophageal Squamous(3;167 355 3763 15924)											0							SO:0001583	missense			ENST00000296343.5	1	1	hg19	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998210|1.998210	0.35226|0.35226	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	4.55|4.55	2.71|2.71	0.32032|0.32032	.|.	.|0.076684	.|0.53938	.|D	.|0.000042	T|T	0.53610|0.53610	0.1807|0.1807	M|M	0.78916|0.78916	2.43|2.43	0.50171|0.50171	D|D	0.999858|0.999858	.|P;B;P	.|0.38677	.|0.642;0.199;0.557	.|B;B;B	.|0.34652	.|0.187;0.072;0.175	T|T	0.55263|0.55263	-0.8168|-0.8168	5|9	.|0.54805	.|T	.|0.06	.|.	8.942|8.942	0.35736|0.35736	0.072:0.0:0.6657:0.2623|0.072:0.0:0.6657:0.2623	.|.	.|835;765;810	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|W	771|765;810;835	.|.	.|ENSP00000273582:R765W	P|R	-|-	2|1	0|2	KIAA0226|KIAA0226	198892399|198892399	0.912000|0.912000	0.30974|0.30974	0.993000|0.993000	0.49108|0.49108	0.602000|0.602000	0.36980|0.36980	0.994000|0.994000	0.29693|0.29693	0.620000|0.620000	0.30215|0.30215	0.555000|0.555000	0.69702|0.69702	CCG|CGG		TCGA-IB-7651-01A-11D-2154-08	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1	63	260	0	78	1	9.999750e-01	20	47	0	78	2		0	0	0	0	0	2	1	1	61	255	0	75	2								-3.126400	1	1	120932	21	44	1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0226	9711	broad.mit.edu	37	3	197408180	197408180	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408180G>A	ENST00000296343.5	-	16	2249	c.2250C>T	c.(2248-2250)tgC>tgT	p.C750C	KIAA0226_ENST00000389665.5_Silent_p.C775C|KIAA0226_ENST00000273582.5_Silent_p.C705C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	p.C750*(1)|p.C705*(1)		31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		CATTCTCGTGGCAGCACTGGC	0.527000													Esophageal Squamous(3;167 355 3763 15924)											2	Substitution - Nonsense(2)						SO:0001819	synonymous_variant			ENST00000296343.5	1	1	hg19	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.39|10.39	1.337956|1.337956	0.24253|0.24253	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000413360	.|.	.|.	.|.	5.48|5.48	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|T	0.69531|0.69531	0.3121|0.3121	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67325|0.67325	-0.5699|-0.5699	4|4	.|.	.|.	.|.	.|.	14.4957|14.4957	0.67685|0.67685	0.0:0.0:0.8529:0.1471|0.0:0.0:0.8529:0.1471	.|.	.|.	.|.	.|.	V|S	534|712	.|.	.|.	A|P	-|-	2|1	0|0	KIAA0226|KIAA0226	198892577|198892577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.022000|4.022000	0.57203|0.57203	2.742000|2.742000	0.94016|0.94016	0.650000|0.650000	0.86243|0.86243	GCC|CCA		TCGA-IB-7651-01A-11D-2154-08	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1	106	401	0	126	1	9.972151e-01	9	27	0	126	2		0	0	0	0	0	2	1	1	106	396	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0226	9711	broad.mit.edu	37	3	197408739	197408739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408739G>A	ENST00000296343.5	-	15	2157	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R675C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226			31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		CCTGCACAGCGGTAATTCTGC	0.592000													Esophageal Squamous(3;167 355 3763 15924)											0							SO:0001583	missense			ENST00000296343.5	1	1	hg19	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.594923|4.594923	0.86953|0.86953	0.0|0.0	1.18E-4|1.18E-4	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.119767	.|0.64402	.|D	.|0.000019	T|T	0.79293|0.79293	0.4421|0.4421	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.975;0.988	T|T	0.79654|0.79654	-0.1713|-0.1713	5|9	.|0.52906	.|T	.|0.07	.|.	17.798|17.798	0.88579|0.88579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|745;675;720	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	L|C	681|675;720;745	.|.	.|ENSP00000273582:R675C	P|R	-|-	2|1	0|0	KIAA0226|KIAA0226	198893136|198893136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.984000|4.984000	0.63838|0.63838	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCG|CGC		TCGA-IB-7651-01A-11D-2154-08	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1	29	213	0	55	1	9.824181e-01	14	36	0	55	2		0	0	0	0	0	2	1	1	29	213	0	54	2								-2.774993	1	1	121230	5	36	1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	0.998246	0.990000	1	9.900000e-01	1
KIAA0226	9711	broad.mit.edu	37	3	197431544	197431544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431544C>A	ENST00000296343.5	-	4	331	c.332G>T	c.(331-333)aGc>aTc	p.S111I	KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S51I	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226			31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		ATCAGCACTGCTCTGGTCGTT	0.587000													Esophageal Squamous(3;167 355 3763 15924)											0							SO:0001583	missense			ENST00000296343.5	1	1	hg19	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857056|1.857056	0.32791|0.32791	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43	5.95|5.95	1.15|1.15	0.20763|0.20763	.|RUN (2);	.|0.970843	.|0.08567	.|N	.|0.926613	T|T	0.30541|0.30541	0.0768|0.0768	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.55800	.|0.973;0.941;0.973	.|P;P;P	.|0.57846	.|0.828;0.735;0.828	T|T	0.28138|0.28138	-1.0053|-1.0053	5|10	.|0.52906	.|T	.|0.07	.|.	7.7581|7.7581	0.28936|0.28936	0.0:0.5565:0.2097:0.2338|0.0:0.5565:0.2097:0.2338	.|.	.|111;51;111	.|E9PEM3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	D|I	89|51;111;111;111	.|ENSP00000273582:S51I;ENSP00000296343:S111I;ENSP00000374316:S111I;ENSP00000390962:S111I	.|ENSP00000273582:S51I	E|S	-|-	3|2	2|0	KIAA0226|KIAA0226	198915941|198915941	0.021000|0.021000	0.18746|0.18746	0.375000|0.375000	0.26029|0.26029	0.243000|0.243000	0.25628|0.25628	0.065000|0.065000	0.14466|0.14466	0.276000|0.276000	0.22118|0.22118	-0.189000|-0.189000	0.12847|0.12847	GAG|AGC		TCGA-IB-7651-01A-11D-2154-08	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	1	44	232	0	53	1	9.534198e-01	3	25	0	53	2		0	0	0	0	0	2	1	1	44	227	0	53	2								-20.000000	1	0	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KIAA0226	9711	broad.mit.edu	37	3	197431564	197431564	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431564G>A	ENST00000296343.5	-	4	311	c.312C>T	c.(310-312)agC>agT	p.S104S	KIAA0226_ENST00000449205.1_Silent_p.S104S|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000389665.5_Silent_p.S104S|KIAA0226_ENST00000273582.5_Silent_p.S44S	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226			31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		TCTCGTGCACGCTGATGAACT	0.542000													Esophageal Squamous(3;167 355 3763 15924)											0							SO:0001819	synonymous_variant			ENST00000296343.5	1	1	hg19	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	2.423	-0.332689	0.05314	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.84	4.75	0.60458	.	.	.	.	.	T	0.63943	0.2554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61710	-0.7007	4	.	.	.	.	12.2711	0.54706	0.1033:0.0:0.8967:0.0	.	.	.	.	C	83	.	.	R	-	1	0	KIAA0226	198915961	1.000000	0.71417	0.480000	0.27341	0.202000	0.24057	3.885000	0.56182	1.123000	0.41961	0.643000	0.83706	CGT		TCGA-IB-7651-01A-11D-2154-08	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	1	0	0	14	207	0	41	0	7.779167e-01	1	43	0	41	2		0	0	0	0	0	2	1	9.997692e-01	14	205	0	41	2								-5.819751	1	0	121110	2	31	1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.790000	0.440000	1.000000	1.000000	0.793794	0.790000	0	6.000000e-01	1
LRCH3	84859	broad.mit.edu	37	3	197541787	197541787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197541787C>T	ENST00000425562.2	+	2	271	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*|LRCH3_ENST00000438796.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3			29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)		AGACCTGTCGCGAAATCGCCT	0.299000																								0							SO:0001587	stop_gained			ENST00000425562.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	29.5	5.012238	0.93346	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.6	3.73	0.42828	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1685	13.5675	0.61826	0.4031:0.5969:0.0:0.0	.	.	.	.	X	91	.	ENSP00000334375:R91X	R	+	1	2	LRCH3	199026184	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	1.360000	0.45960	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	1	0	1	41	161	0	35	1	9.988867e-01	9	35	0	35	2		0	0	0	0	0	2	1	1	40	161	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRCH3	84859	broad.mit.edu	37	3	197566213	197566213	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197566213G>A	ENST00000425562.2	+	10	1273	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T|LRCH3_ENST00000438796.2_Missense_Mutation_p.A425T|LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3			29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)		AAAGCCAGTAGCCATTAGGGA	0.333000																								0							SO:0001583	missense			ENST00000425562.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.59	1.682980	0.29872	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.44482	2.16;1.53;2.11;2.4;2.18;0.92	5.74	2.91	0.33838	.	0.371383	0.29501	N	0.011961	T	0.23649	0.0572	N	0.14661	0.345	0.22240	N	0.999261	B;B;B;B;B	0.31949	0.054;0.236;0.052;0.054;0.348	B;B;B;B;B	0.32980	0.05;0.05;0.075;0.05;0.156	T	0.19128	-1.0315	10	0.10902	T	0.67	-0.0471	11.7902	0.52065	0.0:0.5848:0.3295:0.0857	.	271;397;425;425;425	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	T	425;271;397;425;425;20	ENSP00000399751:A425T;ENSP00000394609:A271T;ENSP00000394965:A397T;ENSP00000334375:A425T;ENSP00000393579:A425T;ENSP00000439083:A20T	ENSP00000334375:A425T	A	+	1	0	LRCH3	199050610	0.304000	0.24472	0.413000	0.26509	0.581000	0.36288	0.873000	0.28052	0.418000	0.25898	-0.182000	0.12963	GCC		TCGA-IB-7651-01A-11D-2154-08	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	1	0	1	33	153	0	39	1	9.960415e-01	8	35	0	39	2		0	0	0	0	0	2	1	1	33	151	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
IQCG	84223	broad.mit.edu	37	3	197665522	197665522	+	Missense_Mutation	SNP	G	G	A	rs139671579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665522G>A	ENST00000265239.6	-	5	836	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000455191.1_Missense_Mutation_p.R138W|IQCG_ENST00000453254.1_Missense_Mutation_p.R138W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G			21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)		ACAGCGAACCGGCCTCTGTGT	0.428000																								0							SO:0001583	missense			ENST00000265239.6	1	1	hg19	CCDS3331.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.15	2.749213	0.49257	0.0	0.001163	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.45276	0.9;0.9;0.99;0.9	4.32	4.32	0.51571	.	1.640010	0.03032	N	0.152233	T	0.33381	0.0861	N	0.08118	0	0.09310	N	1	D;P	0.62365	0.991;0.914	P;B	0.46975	0.533;0.431	T	0.37979	-0.9682	10	0.72032	D	0.01	-10.3603	9.0042	0.36102	0.1056:0.0:0.8944:0.0	.	138;138	C9JKX8;Q9H095	.;IQCG_HUMAN	W	138;138;138;119	ENSP00000265239:R138W;ENSP00000407736:R138W;ENSP00000389897:R138W;ENSP00000406411:R119W	ENSP00000265239:R138W	R	-	1	2	IQCG	199149919	0.052000	0.20516	0.060000	0.19600	0.004000	0.04260	2.450000	0.44943	2.345000	0.79718	0.558000	0.71614	CGG		TCGA-IB-7651-01A-11D-2154-08	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	0	0	1	288	1392	0	314	1	9.961409e-01	7	35	0	314	2		0	0	0	0	0	2	1	1	281	1359	1	311	19								-5.526276	1	0	121412	145	58	1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQCG	84223	broad.mit.edu	37	3	197665544	197665544	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665544C>T	ENST00000265239.6	-	5	814	c.390G>A	c.(388-390)ttG>ttA	p.L130L	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.L130L|IQCG_ENST00000453254.1_Silent_p.L130L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G			21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)		TGATTTCTGGCAAGTTGGGTC	0.433000																								0							SO:0001819	synonymous_variant			ENST00000265239.6	1	1	hg19	CCDS3331.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	1	0	1	284	1368	0	297	1	9.955671e-01	6	35	0	297	2		0	0	0	0	0	2	1	1	276	1338	0	295	2								-20.000000	1	0	0	0		1	1	2	3	2.021329	0	0.170000	2.060000	1.797608e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFHB	151651	broad.mit.edu	37	3	19924048	19924048	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19924048T>G	ENST00000295824.9	-	12	2483	c.2322A>C	c.(2320-2322)aaA>aaC	p.K774N	EFHB_ENST00000344838.4_Missense_Mutation_p.K644N	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B			26					ATACCTCTTCTTTTGATCTGG	0.299000																								0							SO:0001583	missense			ENST00000295824.9	0	1	hg19	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914093	0.33815	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34275	3.05;1.37	5.55	-0.721	0.11189	.	0.109069	0.64402	D	0.000010	T	0.57519	0.2059	M	0.84683	2.71	0.34471	D	0.702805	D;D	0.89917	0.999;1.0	D;D	0.73708	0.981;0.973	T	0.67902	-0.5550	9	.	.	.	-23.6196	11.0307	0.47772	0.0:0.4452:0.0:0.5548	.	644;774	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	N	774;644	ENSP00000295824:K774N;ENSP00000342263:K644N	.	K	-	3	2	EFHB	19899052	0.911000	0.30947	0.488000	0.27440	0.080000	0.17528	-0.095000	0.11077	-0.056000	0.13221	-0.250000	0.11733	AAA		TCGA-IB-7651-01A-11D-2154-08	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	0	0	0	14	64	0	8	0	3.147565e-01	1	5	0	8	2		0	0	0	0	0	2	1	9.998188e-01	14	62	0	8	2								-11.044030	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999373	0.990000	1	9.900000e-01	1
EFHB	151651	broad.mit.edu	37	3	19925921	19925921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19925921G>A	ENST00000295824.9	-	11	2281	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V	EFHB_ENST00000344838.4_Missense_Mutation_p.A577V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B			26					TCCTACAATTGCATTGATCTC	0.403000																								0							SO:0001583	missense			ENST00000295824.9	1	1	hg19	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590323	0.86851	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.34667	1.35;1.4	5.67	5.67	0.87782	.	0.075009	0.51477	D	0.000086	T	0.57562	0.2062	M	0.77103	2.36	0.40306	D	0.978667	P;D	0.59767	0.925;0.986	P;P	0.55455	0.691;0.776	T	0.59064	-0.7524	9	.	.	.	-13.2516	19.7874	0.96444	0.0:0.0:1.0:0.0	.	577;707	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	V	707;577	ENSP00000295824:A707V;ENSP00000342263:A577V	.	A	-	2	0	EFHB	19900925	0.945000	0.32115	0.019000	0.16419	0.093000	0.18481	5.062000	0.64326	2.685000	0.91497	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	1	0	1	46	148	0	31	0	1.463637e-01	0	3	0	31	2		0	0	0	0	0	2	1	1	45	146	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB5A	5868	broad.mit.edu	37	3	19992405	19992405	+	Silent	SNP	C	C	T	rs111819761	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19992405C>T	ENST00000273047.4	+	2	551	c.15C>T	c.(13-15)ggC>ggT	p.G5G	RAB5A_ENST00000422242.1_Silent_p.G5G	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family			2					CTAGTCGAGGCGCAACAAGAC	0.438000																								0							SO:0001819	synonymous_variant			ENST00000273047.4	1	0	hg19	CCDS2633.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2	1	0	1	64	282	0	56	1	1	65	240	0	56	2		0	0	0	0	0	2	1	1	64	280	0	56	2								-3.509432	1	1	121412	71	48	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KAT2B	8850	broad.mit.edu	37	3	20167396	20167396	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20167396G>T	ENST00000263754.4	+	10	1868		c.e10-1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B			40					TTGCATCTCAGACCAATTTTC	0.468000																								0							SO:0001630	splice_region_variant			ENST00000263754.4	1	1	hg19	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337915	0.60963	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6847	0.95976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT2B	20142400	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	9.813000	0.99286	2.726000	0.93360	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	1	0	1	62	382	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	61	375	0	69	2								-3.222122	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
KAT2B	8850	broad.mit.edu	37	3	20169002	20169002	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20169002G>A	ENST00000263754.4	+	11	2165	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B			40					GATTCACAGAGATTGTCTTCT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000263754.4	1	1	hg19	CCDS2634.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	1	0	0	78	300	0	66	0	9.998644e-01	0	53	0	66	2		0	0	0	0	0	2	1	1	78	298	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF385D	79750	broad.mit.edu	37	3	21462771	21462771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462771G>A	ENST00000281523.2	-	8	1641	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D			46					GGCCGCAGGAGTGCCGGAGGA	0.547000																								0							SO:0001583	missense			ENST00000281523.2	1	1	hg19	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741734	0.49151	.	.	ENSG00000151789	ENST00000281523	T	0.51574	0.7	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.42744	1.35	0.53005	D	0.999964	B	0.28636	0.218	B	0.23150	0.044	T	0.34403	-0.9830	10	0.59425	D	0.04	-29.8816	20.3747	0.98911	0.0:0.0:1.0:0.0	.	375	Q9H6B1	Z385D_HUMAN	F	375	ENSP00000281523:L375F	ENSP00000281523:L375F	L	-	1	0	ZNF385D	21437775	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	4.681000	0.61663	2.819000	0.97034	0.557000	0.71058	CTC		TCGA-IB-7651-01A-11D-2154-08	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	1	0	1	25	150	0	32	0	2.179217e-01	0	6	0	32	2		0	0	0	0	0	2	1	9.999999e-01	25	149	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999632	0.990000	1	9.900000e-01	1
ZNF385D	79750	broad.mit.edu	37	3	21462878	21462878	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462878G>A	ENST00000281523.2	-	8	1534	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D			46					agctgctAGAGGATTTGGTAG	0.458000																								0							SO:0001583	missense			ENST00000281523.2	0	1	hg19	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232462	0.39498	.	.	ENSG00000151789	ENST00000281523	T	0.36340	1.26	6.08	6.08	0.98989	.	0.206063	0.46442	D	0.000292	T	0.37812	0.1017	L	0.45352	1.415	0.49130	D	0.999759	B	0.21225	0.053	B	0.16722	0.016	T	0.11275	-1.0594	10	0.87932	D	0	-23.679	20.6593	0.99626	0.0:0.0:1.0:0.0	.	339	Q9H6B1	Z385D_HUMAN	L	339	ENSP00000281523:P339L	ENSP00000281523:P339L	P	-	2	0	ZNF385D	21437882	0.998000	0.40836	0.243000	0.24186	0.238000	0.25445	2.679000	0.46909	2.887000	0.99086	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	1	0	0	17	150	0	21	0	6.079538e-02	0	4	0	21	2		0	0	0	0	0	2	1	9.999710e-01	17	148	0	19	2								-19.999990	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.740000	1.000000	1.000000	0.975112	0.990000	1	9.600000e-01	1
ZNF385D	79750	broad.mit.edu	37	3	21467002	21467002	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21467002C>T	ENST00000281523.2	-	6	1352	c.834G>A	c.(832-834)tcG>tcA	p.S278S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D			46					GTTGCGTTTCCGAGTTGACGT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000281523.2	0	1	hg19	CCDS2636.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	0	0	0	10	528	0	76	0	1.333840e-03	0	3	0	76	2		0	0	0	0	0	2	1	9.966558e-01	10	519	0	75	2								-2.244286	0	1	121410	5	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.230000	0.110000	1.000000	0.210000	0.281398	0.230000	0	1.600000e-01	3.300000e-01
ZNF385D	79750	broad.mit.edu	37	3	21478500	21478500	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21478500G>T	ENST00000281523.2	-	5	1153	c.635C>A	c.(634-636)gCt>gAt	p.A212D	ZNF385D_ENST00000494118.1_5'Flank	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D			46					AGAGTTGACAGCAACCTTGCA	0.473000																								0							SO:0001583	missense			ENST00000281523.2	1	1	hg19	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215996	0.95104	.	.	ENSG00000151789	ENST00000281523	T	0.21543	2.0	6.09	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.70595	2.14	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.24584	-1.0156	10	0.54805	T	0.06	-9.7885	17.5408	0.87846	0.0:0.1232:0.8768:0.0	.	212	Q9H6B1	Z385D_HUMAN	D	212	ENSP00000281523:A212D	ENSP00000281523:A212D	A	-	2	0	ZNF385D	21453504	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.769000	0.98969	2.891000	0.99171	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	1	0	1	74	412	0	90	0	1.150775e-01	0	4	0	90	2		0	0	0	0	0	2	1	1	73	410	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBE2E1	7324	broad.mit.edu	37	3	23932089	23932089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:23932089G>A	ENST00000306627.3	+	6	793	c.574G>A	c.(574-576)Gct>Act	p.A192T	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T|UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1			7					CAAGAGATACGCTACATAAAT	0.453000																								0							SO:0001583	missense			ENST00000306627.3	1	1	hg19	CCDS2638.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707835	0.89018	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000424381;ENST00000452012	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.86	5.0	0.66597	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	D	0.91506	0.7318	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.94761	0.7936	10	0.87932	D	0	.	15.0642	0.71980	0.0678:0.0:0.9321:0.0	.	192	P51965	UB2E1_HUMAN	T	192;175;159;150	ENSP00000303709:A192T;ENSP00000329113:A175T;ENSP00000411351:A159T;ENSP00000393088:A150T	ENSP00000303709:A192T	A	+	1	0	UBE2E1	23907093	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.869000	0.99810	1.494000	0.48533	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252882.2	1	0	1	30	153	0	63	1	1	51	262	0	63	2		0	0	0	0	0	2	1	1	30	147	0	63	2								-16.507130	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
NR1D2	9975	broad.mit.edu	37	3	24003495	24003495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24003495G>A	ENST00000312521.4	+	5	864	c.545G>A	c.(544-546)cGt>cAt	p.R182H	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2			22					ATTCCTAAGCGTGAAAAACAG	0.338000																								0							SO:0001583	missense			ENST00000312521.4	1	1	hg19	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277576	0.95459	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96396	-4.0	5.98	5.98	0.97165	Nuclear hormone receptor, ligand-binding (1);	0.104396	0.64402	D	0.000004	D	0.97939	0.9322	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98254	1.0495	10	0.87932	D	0	.	20.4447	0.99122	0.0:0.0:1.0:0.0	.	182	Q14995	NR1D2_HUMAN	H	182	ENSP00000310006:R182H	ENSP00000310006:R182H	R	+	2	0	NR1D2	23978499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.396000	0.97270	2.834000	0.97654	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3	1	0	1	34	157	0	40	1	1	16	116	0	40	2		0	0	0	0	0	2	1	1	33	157	0	40	2								-20.000000	1	1	121408	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
THRB	7068	broad.mit.edu	37	3	24231596	24231596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24231596C>A	ENST00000356447.4	-	4	536	c.252G>T	c.(250-252)caG>caT	p.Q84H	THRB_ENST00000396671.2_Missense_Mutation_p.Q84H|THRB_ENST00000416420.1_Missense_Mutation_p.Q84H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta			19				Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTTGGAAGGTCTGGGCACTTG	0.423000													Melanoma(21;896 1043 15021 37958)											0							SO:0001583	missense			ENST00000356447.4	1	1	hg19	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205171	0.58234	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414	D;D;D;D	0.96830	-3.27;-3.27;-3.27;-4.14	6.07	4.26	0.50523	.	.	.	.	.	D	0.91395	0.7285	N	0.24115	0.695	0.24548	N	0.994032	P	0.41041	0.736	B	0.35550	0.205	D	0.83841	0.0257	9	0.46703	T	0.11	.	11.6123	0.51066	0.0:0.8081:0.1256:0.0663	.	84	P10828	THB_HUMAN	H	84;84;84;53;84;84;84;84;84	ENSP00000379904:Q84H;ENSP00000348827:Q84H;ENSP00000414444:Q84H;ENSP00000414100:Q53H	ENSP00000348827:Q84H	Q	-	3	2	THRB	24206600	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	1.411000	0.34702	0.866000	0.35629	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	1	0	0	29	698	0	101	0	1.259748e-01	0	15	0	101	2		0	0	0	0	0	2	1	1	28	686	0	101	2								-3.963931	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.480000	0.320000	1.000000	0.470000	0.512644	0.480000	0	3.900000e-01	5.900000e-01
RARB	5915	broad.mit.edu	37	3	25502706	25502706	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25502706C>A	ENST00000404969.1	+	2	201	c.201C>A	c.(199-201)agC>agA	p.S67R	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.S60R|RARB_ENST00000458646.1_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta			28				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAGCACCAGCTCTGAGGAAC	0.448000																								0							SO:0001583	missense			ENST00000404969.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	26.4	4.730521	0.89390	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92858	-2.9;-3.12;-3.09	5.71	4.73	0.59995	.	0.088824	0.85682	D	0.000000	D	0.92740	0.7692	L	0.56280	1.765	0.53688	D	0.999978	D;D	0.62365	0.991;0.977	D;P	0.68039	0.955;0.905	D	0.91640	0.5326	10	0.72032	D	0.01	.	3.7645	0.08617	0.0:0.667:0.0:0.333	.	67;60	P10826;F1D8S6	RARB_HUMAN;.	R	67;67;67;60	ENSP00000373282:S67R;ENSP00000385865:S67R;ENSP00000332296:S60R	ENSP00000332296:S60R	S	+	3	2	RARB	25477710	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.723000	0.93209	0.644000	0.83932	AGC		TCGA-IB-7651-01A-11D-2154-08	RARB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	68	360	0	125	1	9.999110e-01	25	49	0	125	2		0	0	0	0	0	2	1	1	67	350	0	125	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOP2B	7155	broad.mit.edu	37	3	25660243	25660243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25660243C>T	ENST00000264331.4	-	24	3160	c.3161G>A	c.(3160-3162)cGt>cAt	p.R1054H	TOP2B_ENST00000542520.1_5'UTR|TOP2B_ENST00000475717.1_5'Flank|TOP2B_ENST00000540199.1_5'Flank|TOP2B_ENST00000435706.2_Missense_Mutation_p.R1049H	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa			36				Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCACTCCTTACGTAAACCGTA	0.353000																								0							SO:0001583	missense			ENST00000264331.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	28.1	4.890974	0.91889	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.68903	-0.36;-0.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90894	0.4763	10	0.87932	D	0	-0.216	20.038	0.97570	0.0:1.0:0.0:0.0	.	1049	Q02880-2	.	H	1049;1054;1049	ENSP00000396704:R1049H;ENSP00000264331:R1054H	ENSP00000264331:R1054H	R	-	2	0	TOP2B	25635247	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.737000	0.93849	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	32	107	0	38	1	1	30	181	0	38	2		0	0	0	0	0	2	1	1	29	99	0	36	2								-19.999380	1	1	120786	1	27	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOP2B	7155	broad.mit.edu	37	3	25668286	25668286	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25668286G>A	ENST00000264331.4	-	17	2085	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	TOP2B_ENST00000435706.2_Missense_Mutation_p.R691C	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa			36				Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGTAGCCTACGCTGTCTCCGG	0.388000																								0							SO:0001583	missense			ENST00000264331.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.21	3.574399	0.65878	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.78049	2.395	0.80722	D	1	D	0.53745	0.962	P	0.49192	0.602	T	0.67397	-0.5681	10	0.66056	D	0.02	0.0	19.5213	0.95185	0.0:0.0:1.0:0.0	.	691	Q02880-2	.	C	691;696;691	ENSP00000396704:R691C;ENSP00000264331:R696C	ENSP00000264331:R696C	R	-	1	0	TOP2B	25643290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.316000	0.59178	2.681000	0.91329	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	9	60	0	10	1	9.999827e-01	32	145	0	10	2		0	0	0	0	0	2	1	9.945707e-01	8	59	0	10	2								-7.567301	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.770000	1.000000	1.000000	0.984871	0.990000	1	9.900000e-01	1
TOP2B	7155	broad.mit.edu	37	3	25672321	25672321	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25672321A>G	ENST00000264331.4	-	11	1375	c.1376T>C	c.(1375-1377)aTt>aCt	p.I459T	TOP2B_ENST00000435706.2_Missense_Mutation_p.I454T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa			36				Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CAGTTTGGGAATACCTTTGAT	0.299000																								0							SO:0001583	missense			ENST00000264331.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	22.2	4.259482	0.80246	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48201	0.82;0.82	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	H	0.95402	3.665	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.85031	0.0917	10	0.87932	D	0	-9.7441	15.2768	0.73748	1.0:0.0:0.0:0.0	.	454	Q02880-2	.	T	454;459;454	ENSP00000396704:I454T;ENSP00000264331:I459T	ENSP00000264331:I459T	I	-	2	0	TOP2B	25647325	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.022000	0.59522	0.454000	0.30748	ATT		TCGA-IB-7651-01A-11D-2154-08	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	31	109	0	31	1	1	30	95	0	31	2		0	0	0	0	0	2	1	1	31	106	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NGLY1	55768	broad.mit.edu	37	3	25761000	25761000	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25761000T>C	ENST00000280700.5	-	12	2076	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	NGLY1_ENST00000428257.1_Missense_Mutation_p.D621G|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1			18					TTCTTCATGGTCATTTAAGCT	0.373000																								0							SO:0001583	missense			ENST00000280700.5	1	1	hg19	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107473	0.37145	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.71	5.71	0.89125	Peptide N glycanase, PAW domain (1);Galactose-binding domain-like (1);	0.132657	0.64402	D	0.000003	T	0.20577	0.0495	L	0.41415	1.275	0.80722	D	1	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.13407	0.007;0.009;0.006	T	0.05699	-1.0869	10	0.38643	T	0.18	-19.0564	8.5722	0.33576	0.0:0.1139:0.0:0.8861	.	597;621;639	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	G	621;639;618;597	ENSP00000387430:D621G;ENSP00000280700:D639G;ENSP00000307980:D618G;ENSP00000389888:D597G	ENSP00000280700:D639G	D	-	2	0	NGLY1	25736004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.055000	0.64282	2.188000	0.69820	0.454000	0.30748	GAC		TCGA-IB-7651-01A-11D-2154-08	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2	1	0	1	64	255	0	72	1	1	45	101	0	72	2		0	0	0	0	0	2	1	1	63	252	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEK10	152110	broad.mit.edu	37	3	27326096	27326096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326096C>T	ENST00000429845.2	-	23	2373	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	NEK10_ENST00000341435.5_Missense_Mutation_p.V671I|NEK10_ENST00000357467.2_Missense_Mutation_p.V68I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10			41					TACTTACTAACGGTTACTTTG	0.378000																								0							SO:0001583	missense			ENST00000429845.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.504|5.504	0.277915|0.277915	0.10403|0.10403	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000435584|ENST00000357467;ENST00000341435;ENST00000396636	.|T;T	.|0.34072	.|1.38;1.38	6.02|6.02	4.23|4.23	0.50019|0.50019	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.278543	.|0.34046	.|N	.|0.004303	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.00403|0.00403	-1.54|-1.54	0.35353|0.35353	D|D	0.787516|0.787516	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.12156	.|0.003;0.007	T|T	0.27806|0.27806	-1.0063|-1.0063	5|10	.|0.02654	.|T	.|1	.|.	8.1462|8.1462	0.31113|0.31113	0.0:0.7434:0.0:0.2566|0.0:0.7434:0.0:0.2566	.|.	.|671;68	.|Q6ZWH5;Q8N774	.|NEK10_HUMAN;.	H|I	127|68;671;671	.|ENSP00000350059:V68I;ENSP00000343847:V671I	.|ENSP00000343847:V671I	R|V	-|-	2|1	0|0	NEK10|NEK10	27301100|27301100	0.962000|0.962000	0.33011|0.33011	0.669000|0.669000	0.29828|0.29828	0.956000|0.956000	0.61745|0.61745	1.794000|1.794000	0.38774|0.38774	1.558000|1.558000	0.49541|0.49541	0.650000|0.650000	0.86243|0.86243	CGT|GTT		TCGA-IB-7651-01A-11D-2154-08	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	1	0	0	35	221	0	80	0	1.978022e-02	1	1	0	80	2		0	0	0	0	0	2	1	1	35	216	0	79	2								-3.224064	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999862	0.990000	1	9.900000e-01	1
NEK10	152110	broad.mit.edu	37	3	27326381	27326381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326381C>A	ENST00000429845.2	-	22	2223	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10			41					TGATGTTTTTCCTTCAAAGAA	0.328000																								0							SO:0001587	stop_gained			ENST00000429845.2	0	1	hg19		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	43|43|43	10.472178|10.472178|10.472178	0.99411|0.99411|0.99411	.|.|.	.|.|.	ENSG00000163491|ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435;ENST00000396636|ENST00000435584|ENST00000424275	.|.|.	.|.|.	.|.|.	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|.	0.154036|.|.	0.53938|.|.	D|.|.	0.000041|.|.	.|T|T	.|0.66479|0.66479	.|0.2793|0.2793	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.68827|0.68827	.|-0.5306|-0.5306	.|3|3	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	15.0168|15.0168|15.0168	0.71591|0.71591|0.71591	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.|.	.|.|.	.|.|.	.|.|.	X|V|S	18;621;621|77|107	.|.|.	ENSP00000343847:E621X|.|.	E|G|R	-|-|-	1|2|3	0|0|2	NEK10|NEK10|NEK10	27301385|27301385|27301385	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.781000|0.781000|0.781000	0.44180|0.44180|0.44180	4.519000|4.519000|4.519000	0.60517|0.60517|0.60517	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	GAA|GGA|AGG		TCGA-IB-7651-01A-11D-2154-08	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	1	0	1	79	299	0	68	0	1.150574e-01	0	3	0	68	2		0	0	0	0	0	2	1	1	77	298	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN4	152330	broad.mit.edu	37	3	2908487	2908487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2908487G>A	ENST00000397461.1	+	7	890	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4			61		Ovarian(110;0.156)			CAGGATAATCGCCGCTTTGTT	0.388000																								0							SO:0001583	missense			ENST00000397461.1	1	1	hg19	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305748	0.95601	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	D;D;D	0.81659	-1.52;-1.52;-1.52	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92645	0.6128	10	0.87932	D	0	.	19.0488	0.93034	0.0:0.0:1.0:0.0	.	169;169	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	H	169	ENSP00000396010:R169H;ENSP00000380602:R169H;ENSP00000413642:R169H	ENSP00000380602:R169H	R	+	2	0	CNTN4	2883487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.640000	0.98453	2.489000	0.83994	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	1	99	576	0	114	0	1.070827e-01	0	4	0	114	2		0	0	0	0	0	2	1	1	100	573	0	113	2								-20.000000	1	1	120800	1	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN4	152330	broad.mit.edu	37	3	2928774	2928774	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2928774G>T	ENST00000397461.1	+	9	1190	c.806G>T	c.(805-807)aGg>aTg	p.R269M	CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M|CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4			61		Ovarian(110;0.156)			CCAATAGCAAGGAAAGCCAGA	0.408000																								0							SO:0001583	missense			ENST00000397461.1	1	1	hg19	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511723	0.64522	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.73	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060671	0.64402	D	0.000008	T	0.48750	0.1517	N	0.13198	0.31	0.80722	D	1	P;P	0.49862	0.785;0.929	P;P	0.44518	0.452;0.452	T	0.46373	-0.9196	10	0.51188	T	0.08	.	7.155	0.25632	0.1744:0.1352:0.6904:0.0	.	269;269	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	269;269;269;50	ENSP00000396010:R269M;ENSP00000380602:R269M;ENSP00000413642:R269M;ENSP00000351267:R50M	ENSP00000351267:R50M	R	+	2	0	CNTN4	2903774	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	4.415000	0.59809	0.569000	0.29329	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	1	40	175	0	42	0	2.413449e-01	0	5	0	42	2		0	0	0	0	0	2	1	1	40	174	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBMS3	27303	broad.mit.edu	37	3	29781263	29781263	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:29781263T>G	ENST00000383767.2	+	5	788	c.452T>G	c.(451-453)aTg>aGg	p.M151R	RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R|RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000434693.2_Missense_Mutation_p.M150R			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3			11		Ovarian(412;0.0956)			CCCATTTCTATGGATGAGCAG	0.408000																								0							SO:0001583	missense			ENST00000383767.2	1	1	hg19	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578634	0.86645	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.88979	2.995	0.80722	D	1	D;P;D;D	0.59767	0.982;0.906;0.982;0.986	D;P;D;D	0.70935	0.927;0.888;0.927;0.971	T	0.57069	-0.7874	9	.	.	.	.	15.6346	0.76941	0.0:0.0:0.0:1.0	.	151;151;150;151	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	R	150;151;151;151;151;150;151;151	ENSP00000395592:M150R;ENSP00000379828:M151R;ENSP00000373277:M151R;ENSP00000391934:M151R;ENSP00000273139:M151R;ENSP00000373276:M150R;ENSP00000397926:M151R;ENSP00000400519:M151R	.	M	+	2	0	RBMS3	29756267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.029000	0.88807	2.093000	0.63338	0.460000	0.39030	ATG		TCGA-IB-7651-01A-11D-2154-08	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	1	0	1	173	609	0	163	0	9.690939e-01	0	22	0	163	2		0	0	0	0	0	2	1	1	172	599	0	162	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTN4	152330	broad.mit.edu	37	3	3067840	3067840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3067840G>A	ENST00000397461.1	+	14	1925	c.1541G>A	c.(1540-1542)aGt>aAt	p.S514N	CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N|CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4			61		Ovarian(110;0.156)			GTTGGAGAGAGTATTGTTTTA	0.428000																								0							SO:0001583	missense			ENST00000397461.1	1	1	hg19	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819485	0.50633	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	4.99	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.64260	1.97	0.80722	D	1	P;D;D	0.76494	0.918;0.996;0.999	P;D;D	0.77557	0.835;0.977;0.99	T	0.03287	-1.1052	10	0.18276	T	0.48	.	18.2793	0.90092	0.0:0.0:1.0:0.0	.	514;514;514	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	N	514;514;514;295;186;186	ENSP00000396010:S514N;ENSP00000380602:S514N;ENSP00000413642:S514N;ENSP00000351267:S295N;ENSP00000380600:S186N;ENSP00000392077:S186N	ENSP00000351267:S295N	S	+	2	0	CNTN4	3042840	1.000000	0.71417	0.981000	0.43875	0.155000	0.21991	9.247000	0.95444	2.301000	0.77427	0.561000	0.74099	AGT		TCGA-IB-7651-01A-11D-2154-08	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	1	44	190	0	70	0	3.700923e-02	0	2	0	70	2		0	0	0	0	0	2	1	1	44	188	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGFBR2	7048	broad.mit.edu	37	3	30713754	30713754	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30713754A>C	ENST00000295754.5	+	4	1461	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)			53					GGGATTGCTCACCTCCACAGT	0.602000																								0		GRCh37	CM075033	TGFBR2	M		SO:0001583	missense			ENST00000295754.5	1	1	hg19	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048007	0.75846	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67865	-0.29;-0.29	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87437	0.2392	10	0.87932	D	0	.	14.4331	0.67264	1.0:0.0:0.0:0.0	.	360;385	P37173;D2JYI1	TGFR2_HUMAN;.	P	360;385;190	ENSP00000295754:H360P;ENSP00000351905:H385P	ENSP00000295754:H360P	H	+	2	0	TGFBR2	30688758	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	9.335000	0.96500	1.809000	0.52856	0.528000	0.53228	CAC		TCGA-IB-7651-01A-11D-2154-08	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0	0	1	164	806	1	164	1	1	254	539	1	164	17	1	1	133	536	0	588	2	1	1	162	796	1	163	20								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGFBR2	7048	broad.mit.edu	37	3	30729950	30729950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30729950G>A	ENST00000295754.5	+	6	1853	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)			53					GAAGGACAACGTGTTGAGAGA	0.488000																								0							SO:0001583	missense			ENST00000295754.5	1	1	hg19	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232553	0.95207	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.67345	-0.26;-0.26	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86550	0.1834	10	0.87932	D	0	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	491;516	P37173;D2JYI1	TGFR2_HUMAN;.	M	491;516;321	ENSP00000295754:V491M;ENSP00000351905:V516M	ENSP00000295754:V491M	V	+	1	0	TGFBR2	30704954	1.000000	0.71417	0.802000	0.32245	0.993000	0.82548	9.577000	0.98196	2.682000	0.91365	0.591000	0.81541	GTG		TCGA-IB-7651-01A-11D-2154-08	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	1	0	1	69	324	0	94	1	1	264	611	0	94	2	1	1	162	802	0	864	2	1	1	69	317	0	93	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGFBR2	7048	broad.mit.edu	37	3	30732970	30732970	+	Missense_Mutation	SNP	G	G	A	rs104893815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30732970G>A	ENST00000295754.5	+	7	1965	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	p.R528H(1)		53					CCAGAGGCCCGTCTCACAGCC	0.597000																								1	Substitution - Missense(1)	GRCh37	CM050762	TGFBR2	M	rs104893815	SO:0001583	missense			ENST00000295754.5	1	1	hg19	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592391	0.96590	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99264	-5.65;-5.65	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98507	4.25	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	9	0.87932	D	0	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	528;553	P37173;D2JYI1	TGFR2_HUMAN;.	H	528;553;358	ENSP00000295754:R528H;ENSP00000351905:R553H	ENSP00000295754:R528H	R	+	2	0	TGFBR2	30707974	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	9.869000	0.99810	2.803000	0.96430	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	1	0	1	71	338	0	78	1	1	208	591	0	78	2	1	1	178	654	0	793	2	1	1	70	331	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL10	114884	broad.mit.edu	37	3	31918002	31918002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:31918002C>T	ENST00000396556.2	-	3	582	c.460G>A	c.(460-462)Gct>Act	p.A154T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10			34					TTTGCATCAGCAGCTAAAATA	0.433000																								0							SO:0001583	missense			ENST00000396556.2	1	1	hg19	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564909	0.13498	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.45276	0.9;2.26	5.26	4.37	0.52481	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.361080	0.27956	N	0.017174	T	0.25865	0.0630	N	0.20401	0.57	0.26882	N	0.967524	P;B	0.43578	0.811;0.053	B;B	0.40825	0.341;0.088	T	0.07347	-1.0777	10	0.16896	T	0.51	-6.2716	9.3779	0.38295	0.1528:0.7726:0.0:0.0745	.	154;154	B4E212;Q9BXB5	.;OSB10_HUMAN	T	154	ENSP00000379804:A154T;ENSP00000406124:A154T	ENSP00000379804:A154T	A	-	1	0	OSBPL10	31893006	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.571000	0.36450	1.182000	0.42928	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2	1	0	1	38	205	0	33	1	9.999270e-01	29	52	0	33	2		0	0	0	0	0	2	1	1	38	202	0	33	2								-19.670100	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
CRBN	51185	broad.mit.edu	37	3	3215924	3215924	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3215924C>A	ENST00000231948.4	-	3	218	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	CRBN_ENST00000432408.2_Nonsense_Mutation_p.E65*	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon			11				Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	CCATGAAATTCTTCCATATCA	0.388000																								0							SO:0001587	stop_gained			ENST00000231948.4	0	1	hg19	CCDS2562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.419329|6.419329	0.97550|0.97550	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075|ENST00000424814;ENST00000450014	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77933	.|-0.2402	.|3	0.44086|.	T|.	0.13|.	-28.1735|-28.1735	19.7106|19.7106	0.96095|0.96095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	66;65;3|61	.|.	ENSP00000231948:E66X|.	E|K	-|-	1|3	0|2	CRBN|CRBN	3190924|3190924	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.982000|0.982000	0.71751|0.71751	7.638000|7.638000	0.83328|0.83328	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GAA|AAG		TCGA-IB-7651-01A-11D-2154-08	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	0	0	0	6	287	0	56	1	7.809404e-01	2	135	0	56	2		0	0	0	0	0	2	1	9.627103e-01	6	280	0	54	2								-6.697918	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.260000	0.100000	1.000000	0.230000	0.316665	0.260000	0	1.700000e-01	4.100000e-01
CMTM7	112616	broad.mit.edu	37	3	32483422	32483422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32483422G>A	ENST00000334983.5	+	2	486	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7			4					CACCATTTGCGACTTGATAAT	0.547000																								0							SO:0001583	missense			ENST00000334983.5	1	1	hg19	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210546	0.09757	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.25085	1.82	5.5	3.58	0.41010	Marvel (1);MARVEL-like domain (1);	0.293959	0.35466	N	0.003183	T	0.12433	0.0302	N	0.17674	0.51	0.27806	N	0.942302	B;B	0.21821	0.061;0.011	B;B	0.14578	0.011;0.006	T	0.18681	-1.0329	10	0.23891	T	0.37	.	3.0843	0.06272	0.2612:0.0:0.5303:0.2085	.	84;84	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	N	84;84;40	ENSP00000335605:D84N	ENSP00000335605:D84N	D	+	1	0	CMTM7	32458426	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.887000	0.48586	0.571000	0.29365	-0.229000	0.12294	GAC		TCGA-IB-7651-01A-11D-2154-08	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1	1	0	0	26	611	0	106	1	9.978917e-01	15	209	0	106	2		0	0	0	0	0	2	1	9.999999e-01	24	601	0	106	2								-3.971761	1	1	121412	2	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.490000	0.320000	1.000000	0.480000	0.524439	0.490000	0	4.000000e-01	6.100000e-01
DYNC1LI1	51143	broad.mit.edu	37	3	32571040	32571040	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32571040T>C	ENST00000273130.4	-	11	1401	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.N317S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1			7					ACCTTTCATGTTTGGATCAAT	0.378000																								0							SO:0001583	missense			ENST00000273130.4	1	1	hg19	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479274	0.44044	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.19394	2.15;2.15	6.17	6.17	0.99709	.	0.141137	0.64402	D	0.000007	T	0.19846	0.0477	L	0.48877	1.53	0.50813	D	0.999897	B;B	0.20550	0.046;0.002	B;B	0.22152	0.038;0.005	T	0.05903	-1.0857	10	0.23302	T	0.38	-24.0102	11.794	0.52088	0.0:0.0674:0.0:0.9326	.	317;433	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	433;317	ENSP00000273130:N433S;ENSP00000407279:N317S	ENSP00000273130:N433S	N	-	2	0	DYNC1LI1	32546044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.339000	0.65953	2.371000	0.80710	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	1	0	1	17	88	0	18	1	9.999996e-01	4	153	0	18	2		0	0	0	0	0	2	1	9.999777e-01	16	88	0	18	2								-11.667530	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999431	0.990000	1	9.900000e-01	1
DYNC1LI1	51143	broad.mit.edu	37	3	32572011	32572011	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32572011A>G	ENST00000273130.4	-	9	1185	c.1082T>C	c.(1081-1083)tTt>tCt	p.F361S	DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1			7					CTCATGTACAAACTGAAATGA	0.303000																								0							SO:0001630	splice_region_variant			ENST00000273130.4	1	0	hg19	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437829	0.43326	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.18960	2.18;2.18	5.95	5.95	0.96441	.	0.093290	0.85682	D	0.000000	T	0.14917	0.0360	N	0.12182	0.205	0.58432	D	0.999991	P;B	0.47191	0.891;0.007	B;B	0.43225	0.412;0.013	T	0.11743	-1.0575	10	0.21014	T	0.42	-17.4934	16.4069	0.83677	1.0:0.0:0.0:0.0	.	245;361	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	361;245	ENSP00000273130:F361S;ENSP00000407279:F245S	ENSP00000273130:F361S	F	-	2	0	DYNC1LI1	32547015	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.252000	0.78309	2.272000	0.75746	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	1	0	1	61	226	0	51	1	1	7	118	0	51	2		0	0	0	0	0	2	1	1	60	221	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DYNC1LI1	51143	broad.mit.edu	37	3	32574558	32574558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32574558C>A	ENST00000273130.4	-	8	1103	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1			7					TGTAATATTCCTATTTTCTTA	0.294000																								0							SO:0001587	stop_gained			ENST00000273130.4	0	1	hg19	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	C	39	7.298957	0.98196	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	.	.	.	5.96	5.96	0.96718	.	0.048924	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.6077	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	334;218	.	ENSP00000273130:G334X	G	-	1	0	DYNC1LI1	32549562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	1	0	1	30	157	0	32	1	9.999999e-01	7	137	0	32	2		0	0	0	0	0	2	1	1	30	155	0	31	2								-3.265381	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
CNOT10	25904	broad.mit.edu	37	3	32774973	32774973	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32774973T>C	ENST00000328834.5	+	11	1590	c.1274T>C	c.(1273-1275)gTt>gCt	p.V425A	CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10			23					CAGTCTATTGTTGGTCAAGGC	0.294000																								0							SO:0001583	missense			ENST00000328834.5	1	1	hg19	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686005	0.88639	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.52754	1.25;1.2;0.65;1.17	5.74	5.74	0.90152	.	0.105420	0.64402	D	0.000004	T	0.63686	0.2532	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.63880	0.98;0.993;0.983;0.988	P;P;P;P	0.60789	0.718;0.879;0.826;0.675	T	0.64778	-0.6327	10	0.52906	T	0.07	-24.444	16.3426	0.83092	0.0:0.0:0.0:1.0	.	485;425;424;425	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	A	425;425;325;197;485	ENSP00000329376:V425A;ENSP00000330060:V425A;ENSP00000442552:V197A;ENSP00000399862:V485A	ENSP00000330060:V425A	V	+	2	0	CNOT10	32749977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.317000	0.78254	0.460000	0.39030	GTT		TCGA-IB-7651-01A-11D-2154-08	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	1	0	1	32	155	0	54	1	9.961396e-01	8	37	0	54	2		0	0	0	0	0	2	1	1	32	153	0	54	2								-18.298780	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
TRIM71	131405	broad.mit.edu	37	3	32860298	32860298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32860298G>A	ENST00000383763.5	+	1	789	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	p.P242P(1)		24					AGCGCGGCCCGCCGGGTCCCG	0.721000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000383763.5	1	1	hg19	CCDS43060.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	1	0	0	44	213	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1	44	203	0	20	2								-20.000000	1	1	115836	1	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCR4	1233	broad.mit.edu	37	3	32995192	32995192	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995192C>T	ENST00000330953.5	+	2	446	c.278C>T	c.(277-279)cCt>cTt	p.P93L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4			16					TTTTCCCTCCCTTTTTGGGGC	0.498000																								0							SO:0001583	missense			ENST00000330953.5	1	1	hg19	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934249	0.92458	.	.	ENSG00000183813	ENST00000330953	T	0.72051	-0.62	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000027	D	0.89382	0.6699	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91205	0.4994	10	0.72032	D	0.01	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	93	P51679	CCR4_HUMAN	L	93	ENSP00000332659:P93L	ENSP00000332659:P93L	P	+	2	0	CCR4	32970196	1.000000	0.71417	0.954000	0.39281	0.965000	0.64279	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2	1	0	1	150	638	0	109	0	0	0	1	0	109	2		0	0	0	0	0	2	1	1	144	620	0	109	2								-2.875305	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCR4	1233	broad.mit.edu	37	3	32995580	32995580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995580C>A	ENST00000330953.5	+	2	834	c.666C>A	c.(664-666)taC>taA	p.Y222*		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4			16					TGTTTTGCTACTCCATGATCA	0.483000																								0							SO:0001587	stop_gained			ENST00000330953.5	0	1	hg19	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576924	0.96565	.	.	ENSG00000183813	ENST00000330953	.	.	.	5.95	4.13	0.48395	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4166	0.38525	0.0:0.7773:0.0:0.2227	.	.	.	.	X	222	.	ENSP00000332659:Y222X	Y	+	3	2	CCR4	32970584	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	1.039000	0.30266	1.498000	0.48600	0.655000	0.94253	TAC		TCGA-IB-7651-01A-11D-2154-08	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2	0	0	0	14	413	0	71	0	4.748702e-02	0	10	0	71	2		0	0	0	0	0	2	1	9.997595e-01	14	412	0	71	2								-13.464310	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.400000	0.220000	1.000000	0.390000	0.442175	0.400000	0	3.000000e-01	5.400000e-01
GLB1	2720	broad.mit.edu	37	3	33099761	33099761	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33099761C>A	ENST00000399402.3	-	6	594	c.463G>T	c.(463-465)Gtt>Ttt	p.V155F	GLB1_ENST00000445488.2_Splice_Site_p.V233F|GLB1_ENST00000307363.5_Splice_Site_p.V185F|GLB1_ENST00000307377.8_Intron	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1			21		Melanoma(143;0.104)			TCATTTTCAACCTGTGAGTGA	0.453000																								0							SO:0001630	splice_region_variant			ENST00000399402.3	1	0	hg19	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775302	0.90108	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000415454;ENST00000440656	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.57	5.57	0.84162	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 35, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98516	1.0621	10	0.87932	D	0	-22.4263	19.5175	0.95170	0.0:1.0:0.0:0.0	.	185;185;233	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	F	155;185;233;26;54	ENSP00000382333:V155F;ENSP00000306920:V185F;ENSP00000393377:V233F;ENSP00000411813:V26F;ENSP00000411769:V54F	ENSP00000306920:V185F	V	-	1	0	GLB1	33074765	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.574000	0.67424	2.780000	0.95670	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	1	0	1	30	125	0	31	1	1	2	154	0	31	2		0	0	0	0	0	2	1	1	30	123	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FBXL2	25827	broad.mit.edu	37	3	33415414	33415414	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33415414G>A	ENST00000484457.1	+	9	748		c.e9+1		FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000446237.3_Splice_Site|FBXL2_ENST00000283627.6_Splice_Site	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2			15					GTCCTGCTCAGTAAGTAGCGT	0.498000																								0							SO:0001630	splice_region_variant			ENST00000484457.1	1	1	hg19	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953424	0.73902	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000507198	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8767	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXL2	33390418	1.000000	0.71417	0.996000	0.52242	0.655000	0.38815	9.722000	0.98770	2.873000	0.98535	0.644000	0.83932	.		TCGA-IB-7651-01A-11D-2154-08	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	1	0	1	64	229	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	62	228	0	61	2								-4.014148	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXL2	25827	broad.mit.edu	37	3	33420310	33420310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33420310G>T	ENST00000446237.3	+	14	1182	c.158G>T	c.(157-159)gGg>gTg	p.G53V	FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000542085.1_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000484457.1_Intron					F-box and leucine-rich repeat protein 2			15					AAGCTGTTTGGGTTCTCTTTC	0.393000																								0							SO:0001583	missense			ENST00000446237.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.724	0.134621	0.09032	.	.	ENSG00000153558	ENST00000446237	T	0.16457	2.34	3.39	1.37	0.22104	.	.	.	.	.	T	0.14442	0.0349	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31280	-0.9949	5	.	.	.	.	8.2416	0.31662	0.0:0.0:0.5855:0.4145	.	.	.	.	V	53	ENSP00000389251:G53V	.	G	+	2	0	FBXL2	33395314	0.053000	0.20554	0.004000	0.12327	0.082000	0.17680	0.485000	0.22324	0.171000	0.19730	0.543000	0.68304	GGG		TCGA-IB-7651-01A-11D-2154-08	FBXL2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	34	120	0	22	0	0	0	1	0	22	2		0	0	0	0	0	2	1	1	34	117	0	20	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBP1	7342	broad.mit.edu	37	3	33444367	33444367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33444367G>A	ENST00000283629.3	-	9	1486	c.957C>T	c.(955-957)gcC>gcT	p.A319A	UBP1_ENST00000283628.5_Silent_p.A319A|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Silent_p.A283A	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)			23					TATTCACATAGGCTGTGGGGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000283629.3	0	1	hg19	CCDS2659.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	0	0	1	8	86	0	15	1	9.996721e-01	37	148	0	15	2		0	0	0	0	0	2	1	9.868526e-01	8	79	0	15	2								-13.295740	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.500000	1.000000	1.000000	0.902100	0.990000	1	7.300000e-01	1
UBP1	7342	broad.mit.edu	37	3	33453162	33453162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33453162C>A	ENST00000283629.3	-	5	995	c.466G>T	c.(466-468)Gga>Tga	p.G156*	UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)			23					TCAATTATTCCCACAGACATT	0.333000																								0							SO:0001587	stop_gained			ENST00000283629.3	0	1	hg19	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	41	9.064091	0.99053	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8616	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	X	156	.	ENSP00000283628:G156X	G	-	1	0	UBP1	33428166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.850000	0.98022	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	1	0	1	89	463	0	104	1	1	8	135	0	104	2		0	0	0	0	0	2	1	1	85	460	0	104	2								-2.695202	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLASP2	23122	broad.mit.edu	37	3	33623338	33623338	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33623338A>G	ENST00000468888.2	-	23	2371	c.2325T>C	c.(2323-2325)agT>agC	p.S775S	CLASP2_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000399362.4_Silent_p.S774S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000461133.3_Silent_p.S541S|CLASP2_ENST00000307312.7_Silent_p.S263S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2			48					AGCGAACAGGACTTGTGTCTC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000468888.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	1	0	1	22	78	0	37	1	9.999987e-01	15	75	0	37	2		0	0	0	0	0	2	1	9.999994e-01	22	76	0	36	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
CLASP2	23122	broad.mit.edu	37	3	33729814	33729814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33729814C>T	ENST00000468888.2	-	4	471	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	CLASP2_ENST00000399362.4_Missense_Mutation_p.R142Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.R142Q|CLASP2_ENST00000307312.7_5'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2			48					TTCTCGAGATCGAAAATTCTT	0.284000																								0							SO:0001583	missense			ENST00000468888.2	0	0	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.230980	0.95207	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576	T;T;T	0.38240	1.15;1.15;1.15	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.61602	0.2360	M	0.83483	2.645	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.67138	-0.5746	10	0.62326	D	0.03	-11.3274	15.3439	0.74320	0.0:1.0:0.0:0.0	.	142	F5H604	.	Q	142	ENSP00000419974:R142Q;ENSP00000382297:R142Q;ENSP00000352581:R142Q	ENSP00000352581:R142Q	R	-	2	0	CLASP2	33704818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.526000	0.60566	2.534000	0.85438	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	1	0	1	10	37	0	7	1	9.970679e-01	12	32	0	7	2	0	0	1	0	0	0	2	1	9.979296e-01	10	37	0	7	2								-3.761701	1	0	120454	2	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998878	0.990000	1	9.900000e-01	1
PDCD6IP	10015	broad.mit.edu	37	3	33885712	33885712	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33885712G>T	ENST00000307296.3	+	11	1845	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein			23					GCCTTTAAGAGCAGGTAAAAA	0.338000																								0							SO:0001583	missense			ENST00000307296.3	1	1	hg19	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550891	0.27739	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.28069	1.63;1.63	5.27	4.4	0.53042	.	0.369300	0.31949	N	0.006801	T	0.15305	0.0369	N	0.20766	0.605	0.48632	D	0.999686	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.14578	0.009;0.011;0.005	T	0.07654	-1.0761	10	0.07644	T	0.81	-6.8926	6.2042	0.20593	0.1533:0.0:0.6964:0.1503	.	271;495;490	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	S	490;495	ENSP00000307387:A490S;ENSP00000411825:A495S	ENSP00000307387:A490S	A	+	1	0	PDCD6IP	33860716	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.287000	0.43505	1.238000	0.43771	-0.259000	0.10710	GCA		TCGA-IB-7651-01A-11D-2154-08	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2	1	0	1	53	221	0	58	1	1	164	402	0	58	2		0	0	0	0	0	2	1	1	53	214	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARPP21	10777	broad.mit.edu	37	3	35748539	35748539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:35748539C>T	ENST00000187397.4	+	10	1216	c.760C>T	c.(760-762)Cga>Tga	p.R254*	ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R254*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa			61					TATCTTGAAGCGAGATAACTC	0.378000																								0							SO:0001587	stop_gained			ENST00000187397.4	0	1	hg19	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	41	8.576318	0.98870	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.019	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000187397:R254X	R	+	1	2	ARPP21	35723543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.411000	0.34702	2.880000	0.98712	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	0	0	0	16	416	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	9.999283e-01	16	410	0	65	2								-4.113359	1	1	121412	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.450000	0.260000	1.000000	0.430000	0.488707	0.450000	0	3.400000e-01	6.000000e-01
DCLK3	85443	broad.mit.edu	37	3	36757013	36757013	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36757013C>A	ENST00000416516.2	-	5	2244		c.e5-1		DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3			48					TCTTTAGCAGCTGTTGGAATG	0.473000																								0							SO:0001630	splice_region_variant			ENST00000416516.2	1	1	hg19	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585628	0.86748	.	.	ENSG00000163673	ENST00000416516	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3271	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCLK3	36732017	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.295000	0.78780	2.885000	0.99019	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	1	0	1	56	203	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	55	196	0	56	2								-3.938193	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRANK1	9881	broad.mit.edu	37	3	36872371	36872371	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36872371C>A	ENST00000429976.2	-	21	8818	c.8571G>T	c.(8569-8571)tgG>tgT	p.W2857C	TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C|TRANK1_ENST00000301807.6_Missense_Mutation_p.W2307C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1			73					TACCGCCAGCCCAGGCCTTCC	0.582000																								0							SO:0001583	missense			ENST00000429976.2	1	1	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340832	0.60963	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.62498	0.02;0.43;0.02	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000038	T	0.72463	0.3463	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75425	-0.3322	10	0.87932	D	0	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	2857	O15050	TRNK1_HUMAN	C	2307;2857;2307	ENSP00000416826:W2307C;ENSP00000416168:W2857C;ENSP00000301807:W2307C	ENSP00000301807:W2307C	W	-	3	0	TRANK1	36847375	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.359000	0.66074	2.607000	0.88179	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	56	209	0	41	1	9.999979e-01	4	72	0	41	2		0	0	0	0	0	2	1	1	56	202	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRANK1	9881	broad.mit.edu	37	3	36876271	36876271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36876271G>T	ENST00000429976.2	-	20	5760	c.5513C>A	c.(5512-5514)gCt>gAt	p.A1838D	TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1288D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1			73					TGCAATAGCAGCTTCTTCAAA	0.483000																								0							SO:0001583	missense			ENST00000429976.2	1	1	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604635	0.87157	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.39406	1.08;1.5;1.08	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000017	T	0.56834	0.2012	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.57394	-0.7819	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	1838	O15050	TRNK1_HUMAN	D	1288;1838;1288	ENSP00000416826:A1288D;ENSP00000416168:A1838D;ENSP00000301807:A1288D	ENSP00000301807:A1288D	A	-	2	0	TRANK1	36851275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.778000	0.75043	2.941000	0.99782	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	77	233	0	53	1	9.972743e-01	2	28	0	53	2		0	0	0	0	0	2	1	1	75	230	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRANK1	9881	broad.mit.edu	37	3	36897035	36897035	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897035C>A	ENST00000429976.2	-	12	4293	c.4046G>T	c.(4045-4047)aGc>aTc	p.S1349I	TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I|TRANK1_ENST00000301807.6_Missense_Mutation_p.S799I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1			73					ACTGAAGAGGCTGTAGATCTC	0.483000																								0							SO:0001583	missense			ENST00000429976.2	1	1	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	4.429	0.079359	0.08533	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81996	-1.56;-1.56;-1.56	5.46	-1.71	0.08133	.	1.536190	0.03332	N	0.193583	T	0.74741	0.3756	N	0.24115	0.695	0.09310	N	1	B	0.32939	0.391	B	0.38428	0.273	T	0.64508	-0.6391	10	0.46703	T	0.11	.	7.0783	0.25217	0.0:0.2959:0.1271:0.577	.	1349	O15050	TRNK1_HUMAN	I	799;1349;799	ENSP00000416826:S799I;ENSP00000416168:S1349I;ENSP00000301807:S799I	ENSP00000301807:S799I	S	-	2	0	TRANK1	36872039	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.412000	0.02476	-0.030000	0.13804	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	115	546	0	117	1	9.968050e-01	5	37	0	117	2		0	0	0	0	0	2	1	1	114	539	0	117	2								-20.000000	1	0	120838	1	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRANK1	9881	broad.mit.edu	37	3	36897987	36897987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897987C>T	ENST00000429976.2	-	12	3341	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G482R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1			73					CCACTTCGCCCAATAAGGATG	0.547000																								0							SO:0001583	missense			ENST00000429976.2	1	1	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929489	0.73327	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.90261	-2.64;-2.64;-2.64	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000008	D	0.95265	0.8464	M	0.75777	2.31	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95552	0.8621	10	0.87932	D	0	.	19.0703	0.93130	0.0:1.0:0.0:0.0	.	1032	O15050	TRNK1_HUMAN	R	482;1032;482	ENSP00000416826:G482R;ENSP00000416168:G1032R;ENSP00000301807:G482R	ENSP00000301807:G482R	G	-	1	0	TRANK1	36872991	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.976000	0.70484	2.594000	0.87642	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	83	336	0	97	1	9.848124e-01	4	25	0	97	2		0	0	0	0	0	2	1	1	82	332	0	97	2								-3.163909	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPM2AIP1	9852	broad.mit.edu	37	3	37033662	37033662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37033662C>T	ENST00000322716.5	-	1	1133	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1			27					ACTATCCATTCGGATATGGTA	0.398000																								0							SO:0001583	missense			ENST00000322716.5	1	1	hg19	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	8.266	0.812362	0.16537	.	.	ENSG00000178567	ENST00000322716	D	0.83591	-1.74	4.8	3.91	0.45181	.	.	.	.	.	T	0.54208	0.1844	N	0.02539	-0.55	0.09310	N	1	B	0.33198	0.401	B	0.29785	0.107	T	0.54241	-0.8323	9	0.02654	T	1	4.1946	6.531	0.22326	0.0:0.7191:0.1851:0.0957	.	303	Q7L775	EPMIP_HUMAN	K	303	ENSP00000406027:E303K	ENSP00000406027:E303K	E	-	1	0	EPM2AIP1	37008666	0.632000	0.27172	0.747000	0.31113	0.992000	0.81027	1.580000	0.36547	1.210000	0.43336	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	1	0	0	31	328	0	69	0	5.340079e-01	1	19	0	69	2		0	0	0	0	0	2	1	1	31	324	0	69	2								-3.221884	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.710000	1.000000	1.000000	0.950471	0.990000	1	8.600000e-01	1
MLH1	4292	broad.mit.edu	37	3	37053334	37053334	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37053334T>C	ENST00000231790.2	+	7	785	c.569T>C	c.(568-570)aTt>aCt	p.I190T	MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	p.0?(1)		127					AATGCAGGCATTAGTTTCTCA	0.343000		1	D, Mis, N, F, S		colorectal, endometrial, ovarian, CNS	colorectal, endometrial, ovarian, CNS		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec	yes	Hereditary non-polyposis colorectal cancer, Turcot syndrome	3	3p21.3	4292	E.coli MutL homolog gene		E, O	1	Whole gene deletion(1)						SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000231790.2	1	1	hg19	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580974	0.46006	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176	D;D	0.90620	-2.7;-2.7	5.92	5.92	0.95590	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.118924	0.64402	D	0.000017	D	0.90549	0.7038	M	0.76170	2.325	0.80722	D	1	B;B;B	0.12630	0.003;0.006;0.006	B;B;B	0.17098	0.011;0.011;0.017	D	0.87158	0.2213	10	0.46703	T	0.11	-19.4156	16.3662	0.83325	0.0:0.0:0.0:1.0	.	92;190;190	E9PCU2;Q53GX1;P40692	.;.;MLH1_HUMAN	T	190;156;156;54;92	ENSP00000231790:I190T;ENSP00000402564:I92T	ENSP00000231790:I190T	I	+	2	0	MLH1	37028338	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.294000	0.65687	2.274000	0.75844	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	1	0	1	244	856	0	218	1	9.999969e-01	17	47	0	218	2	1	1	114	621	0	601	2	1	1	239	841	0	216	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VILL	50853	broad.mit.edu	37	3	38047333	38047333	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38047333C>T	ENST00000283713.6	+	17	2267	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	VILL_ENST00000465644.1_Silent_p.A385A|VILL_ENST00000383759.2_Silent_p.A667A			O15195	VILL_HUMAN	villin-like			28					AGGCGGTGGCCTGGGGCCAGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000283713.6	1	1	hg19	CCDS2670.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	0	0	0	17	646	0	97	1	9.983121e-01	25	366	0	97	2		0	0	0	0	0	2	1	9.999577e-01	17	631	0	96	2								-2.838345	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.310000	0.180000	1.000000	0.300000	0.356081	0.310000	0	2.400000e-01	4.100000e-01
VILL	50853	broad.mit.edu	37	3	38048048	38048048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38048048C>T	ENST00000283713.6	+	19	2580	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*|VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*			O15195	VILL_HUMAN	villin-like			28					TGATCTGGTGCGAAGCCCCAA	0.657000																								0							SO:0001587	stop_gained			ENST00000283713.6	0	1	hg19	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730392	0.69074	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	.	.	.	3.14	3.14	0.36123	.	4.268040	0.00846	N	0.001781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	2.6977	10.0336	0.42116	0.0:1.0:0.0:0.0	.	.	.	.	X	772;772;758;490	.	ENSP00000283713:R772X	R	+	1	2	VILL	38023052	0.000000	0.05858	0.032000	0.17829	0.006000	0.05464	-0.079000	0.11357	2.090000	0.63153	0.462000	0.41574	CGA		TCGA-IB-7651-01A-11D-2154-08	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	0	0	0	16	393	0	76	1	9.996563e-01	7	320	0	76	2		0	0	0	0	0	2	1	9.999297e-01	16	388	0	75	2								-3.371861	1	1	121394	1	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.470000	0.280000	1.000000	0.460000	0.512648	0.470000	0	3.600000e-01	6.300000e-01
PLCD1	5333	broad.mit.edu	37	3	38050075	38050075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38050075G>A	ENST00000334661.4	-	12	1998	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	PLCD1_ENST00000463876.1_Silent_p.R613R|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1			24					TGTCCTGGAAGCGGCCCTGGT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000334661.4	1	1	hg19	CCDS2671.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2	1	0	1	41	221	0	60	1	9.894375e-01	5	36	0	60	2		0	0	0	0	0	2	1	1	41	219	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
DLEC1	9940	broad.mit.edu	37	3	38105386	38105386	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38105386T>A	ENST00000308059.6	+	6	1170	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E|DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E					deleted in lung and esophageal cancer 1			51					TTTTCACAGATTATGAAATTG	0.378000																								0							SO:0001583	missense			ENST00000308059.6	1	1	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	14.23	2.471952	0.43942	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06608	3.29;3.28;3.51	4.67	3.52	0.40303	.	0.104304	0.64402	D	0.000006	T	0.07773	0.0195	L	0.53249	1.67	0.42793	D	0.993903	P;P;P;P	0.47604	0.811;0.898;0.735;0.898	B;B;B;B	0.43658	0.331;0.426;0.331;0.426	T	0.31779	-0.9931	10	0.33940	T	0.23	-13.2537	6.7698	0.23587	0.0:0.1057:0.0:0.8943	.	383;383;383;383	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	E	383	ENSP00000308597:D383E;ENSP00000315914:D383E;ENSP00000410427:D383E	ENSP00000308597:D383E	D	+	3	2	DLEC1	38080390	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.526000	0.22971	0.813000	0.34350	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	1	137	598	0	103	0	3.526712e-02	0	2	0	103	2		0	0	0	0	0	2	1	1	134	588	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLEC1	9940	broad.mit.edu	37	3	38139062	38139062	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38139062G>T	ENST00000308059.6	+	17	2520	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H	DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H|DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H					deleted in lung and esophageal cancer 1			51					CCACAAGCCAGGACCTGCTGT	0.582000																								0							SO:0001583	missense			ENST00000308059.6	1	1	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707812	0.30322	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05139	3.51;3.49;3.72	5.06	4.12	0.48240	.	0.751776	0.12452	U	0.467648	T	0.07188	0.0182	L	0.48642	1.525	0.26044	N	0.981565	B;B;B	0.25351	0.124;0.071;0.124	B;B;B	0.21360	0.034;0.03;0.031	T	0.12993	-1.0526	10	0.35671	T	0.21	-6.1338	9.7481	0.40459	0.0:0.1505:0.6946:0.1548	.	833;833;833	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	H	833	ENSP00000308597:Q833H;ENSP00000315914:Q833H;ENSP00000410427:Q833H	ENSP00000308597:Q833H	Q	+	3	2	DLEC1	38114066	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.496000	0.35638	2.357000	0.79964	0.558000	0.71614	CAG		TCGA-IB-7651-01A-11D-2154-08	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	0	22	270	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	9.999987e-01	21	264	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.900000	0.580000	1.000000	1.000000	0.879844	0.900000	1	7.300000e-01	1
DLEC1	9940	broad.mit.edu	37	3	38141888	38141888	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38141888G>A	ENST00000308059.6	+	19	2857	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K					deleted in lung and esophageal cancer 1			51					GACCGTCCTGGAGCTGGAGGT	0.522000																								0							SO:0001583	missense			ENST00000308059.6	1	1	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031665	0.75504	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05786	3.41;3.39;3.63	4.68	3.8	0.43715	.	0.134395	0.48286	D	0.000192	T	0.13798	0.0334	M	0.72894	2.215	0.38794	D	0.95504	P;P;D;P	0.58268	0.897;0.744;0.982;0.897	P;B;P;P	0.55055	0.625;0.196;0.767;0.625	T	0.18241	-1.0343	10	0.06891	T	0.86	-11.375	12.2875	0.54800	0.0861:0.0:0.9139:0.0	.	946;946;946;946	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	K	946	ENSP00000308597:E946K;ENSP00000315914:E946K;ENSP00000410427:E946K	ENSP00000308597:E946K	E	+	1	0	DLEC1	38116892	1.000000	0.71417	0.947000	0.38551	0.747000	0.42532	4.466000	0.60148	1.087000	0.41251	0.467000	0.42956	GAG		TCGA-IB-7651-01A-11D-2154-08	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	1	88	400	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	88	391	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLEC1	9940	broad.mit.edu	37	3	38158136	38158136	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38158136A>C	ENST00000308059.6	+	28	4070	c.4049A>C	c.(4048-4050)gAa>gCa	p.E1350A	DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A|DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A					deleted in lung and esophageal cancer 1			51					TTCAGCCATGAAACTGACTCA	0.627000																								0							SO:0001583	missense			ENST00000308059.6	1	1	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	A	2.900	-0.227715	0.06022	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05447	3.46;3.44;3.68	4.65	0.865	0.19074	.	1.823620	0.02868	N	0.131149	T	0.07143	0.0181	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.44907	-0.9297	10	0.09084	T	0.74	0.0041	6.243	0.20801	0.4328:0.456:0.1112:0.0	.	1353;1350;1350;1350	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	A	1350;1350;1353	ENSP00000308597:E1350A;ENSP00000315914:E1350A;ENSP00000410427:E1353A	ENSP00000308597:E1350A	E	+	2	0	DLEC1	38133140	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.352000	0.20113	0.302000	0.22762	0.260000	0.18958	GAA		TCGA-IB-7651-01A-11D-2154-08	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	1	97	405	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	94	380	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACAA1	30	broad.mit.edu	37	3	38175489	38175489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38175489G>A	ENST00000333167.8	-	3	449	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000544624.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1			9					GCCCCAGGCTGCAGCACATTT	0.512000																								0							SO:0001587	stop_gained			ENST00000333167.8	0	1	hg19	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	37	6.620698	0.97709	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607	.	.	.	5.58	5.58	0.84498	.	0.128735	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-11.4369	19.5262	0.95208	0.0:0.0:1.0:0.0	.	.	.	.	X	93;93;93;25;93	.	ENSP00000301810:Q93X	Q	-	1	0	ACAA1	38150493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.327000	0.79147	2.778000	0.95560	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	1	0	0	61	231	0	60	1	1	7	126	0	60	2		0	0	0	0	0	2	1	1	60	228	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OXSR1	9943	broad.mit.edu	37	3	38292919	38292919	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38292919A>G	ENST00000311806.3	+	16	1773	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E		NM_005109.2	NP_005100.1			oxidative stress responsive 1			1					TCTCTCAGGAACTCATTTCTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000311806.3	1	1	hg19	CCDS2675.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	1	0	0	230	945	0	238	1	1	35	91	0	238	2		0	0	0	0	0	2	1	1	228	931	0	237	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC22A13	9390	broad.mit.edu	37	3	38317516	38317516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38317516G>A	ENST00000311856.4	+	7	1215	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13			20					AGGTTTGGCCGCAAGTGGAGC	0.572000																								0							SO:0001583	missense			ENST00000311856.4	1	0	hg19	CCDS2676.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.2	4.712305	0.89112	.	.	ENSG00000172940	ENST00000311856	D	0.84070	-1.8	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93762	0.8006	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95267	0.8374	10	0.87932	D	0	.	18.0286	0.89276	0.0:0.0:1.0:0.0	.	389;389	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	389	ENSP00000310241:R389H	ENSP00000310241:R389H	R	+	2	0	SLC22A13	38292520	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	5.849000	0.69465	2.582000	0.87167	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	1	0	1	29	148	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	29	146	0	38	2								-2.864948	1	1	121412	8	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
XYLB	9942	broad.mit.edu	37	3	38408309	38408309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38408309G>A	ENST00000207870.3	+	7	608	c.518G>A	c.(517-519)gGg>gAg	p.G173E	XYLB_ENST00000542835.1_Missense_Mutation_p.G36E	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)			24					CGTTTTACAGGGAACCAAATT	0.393000																								0							SO:0001583	missense			ENST00000207870.3	0	1	hg19	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.716084	0.89205	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.48201	0.82;0.82	5.43	5.43	0.79202	Carbohydrate kinase, FGGY, N-terminal (1);	0.061528	0.64402	D	0.000003	T	0.76535	0.4001	M	0.92970	3.365	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82196	-0.0577	10	0.87932	D	0	.	17.1436	0.86760	0.0:0.0:1.0:0.0	.	36;173	B4DDT2;O75191	.;XYLB_HUMAN	E	173;36	ENSP00000207870:G173E;ENSP00000443659:G36E	ENSP00000207870:G173E	G	+	2	0	XYLB	38383313	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.734000	0.84928	2.727000	0.93392	0.550000	0.68814	GGG		TCGA-IB-7651-01A-11D-2154-08	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	0	0	0	49	262	1	59	1	2.473574e-01	2	4	1	59	2		0	0	0	0	0	2	1	9.999909e-01	48	257	1	59	17								-2.934629	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ACVR2B	93	broad.mit.edu	37	3	38524754	38524754	+	Silent	SNP	G	G	A	rs41285127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38524754G>A	ENST00000352511.4	+	11	1942	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB			1	Medulloblastoma(35;0.163)				GCACTACCTCGGACTGTCTCG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000352511.4	1	1	hg19	CCDS2679.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	1	0	1	111	434	0	88	1	8.390408e-01	5	10	0	88	2		0	0	0	0	0	2	1	1	111	425	0	88	2								-2.849633	1	1	121412	4	43	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38595864	38595864	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38595864G>A	ENST00000333535.4	-	27	4868	c.4719C>T	c.(4717-4719)ggC>ggT	p.G1573G	SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000455624.2_Splice_Site|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000414099.2_Silent_p.G1555G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAATACACTCGCCTGTGAAGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000333535.4	1	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028857	0.35797	.	.	ENSG00000183873	ENST00000455624	.	.	.	3.69	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0242	0.09680	0.0946:0.1736:0.5766:0.1552	.	.	.	.	.	-1	.	.	.	-	.	.	SCN5A	38570868	0.398000	0.25279	1.000000	0.80357	0.910000	0.53928	0.158000	0.16422	0.736000	0.32559	0.462000	0.41574	.		TCGA-IB-7651-01A-11D-2154-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	0	1	78	326	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	74	323	0	88	2								-20.000000	1	1	121114	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38603958	38603958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38603958G>A	ENST00000333535.4	-	22	4060	c.3911C>T	c.(3910-3912)aCg>aTg	p.T1304M	SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000413689.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCACGCAGCGTCCGCAGTGA	0.622000																								0		GRCh37	CM992663	SCN5A	M		SO:0001583	missense			ENST00000333535.4	1	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001180	0.54254	2.39E-4	4.72E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.04	4.04	0.47022	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.94503	3.545	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;0.988	D	0.98908	1.0779	10	0.87932	D	0	.	16.4146	0.83729	0.0:0.0:1.0:0.0	.	1250;1303;1304;1304;1304;1303;1304	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1304;1303;1304;1250;1303;1304;1304;1303;1250;1250	ENSP00000398962:T1304M;ENSP00000398266:T1303M;ENSP00000410257:T1304M;ENSP00000388797:T1250M;ENSP00000397915:T1303M;ENSP00000416634:T1304M;ENSP00000328968:T1304M;ENSP00000399524:T1303M;ENSP00000403355:T1250M;ENSP00000413996:T1250M	ENSP00000328968:T1304M	T	-	2	0	SCN5A	38578962	1.000000	0.71417	0.890000	0.34922	0.068000	0.16541	9.657000	0.98554	2.105000	0.64084	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	18	108	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999870e-01	16	108	0	26	2								-4.198417	1	1	121042	25	45	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998618	0.990000	1	9.900000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38616790	38616790	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38616790G>T	ENST00000333535.4	-	20	3813	c.3664C>A	c.(3664-3666)Ctg>Atg	p.L1222M	SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000413689.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGGTACCAGCGCTCCACTG	0.587000																								0							SO:0001583	missense			ENST00000333535.4	1	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900162	0.72754	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49;-4.49	4.21	4.21	0.49690	.	0.165085	0.41938	D	0.000789	D	0.98704	0.9565	M	0.86268	2.805	0.47476	D	0.999433	D;D;P;P;D;D;D	0.76494	0.991;0.994;0.942;0.699;0.999;0.998;0.983	D;P;P;B;D;D;P	0.77557	0.972;0.832;0.805;0.425;0.974;0.99;0.865	D	0.99647	1.0990	10	0.87932	D	0	.	16.7305	0.85433	0.0:0.0:1.0:0.0	.	1168;1221;1222;1222;1222;1221;1222	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1222;1221;1222;1168;1221;1222;1222;1221;1168;1168	ENSP00000398962:L1222M;ENSP00000398266:L1221M;ENSP00000410257:L1222M;ENSP00000388797:L1168M;ENSP00000397915:L1221M;ENSP00000416634:L1222M;ENSP00000328968:L1222M;ENSP00000399524:L1221M;ENSP00000403355:L1168M;ENSP00000413996:L1168M	ENSP00000328968:L1222M	L	-	1	2	SCN5A	38591794	1.000000	0.71417	0.938000	0.37757	0.987000	0.75469	6.586000	0.74067	2.356000	0.79943	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	12	67	0	20	0	2.740139e-02	0	2	0	20	2		0	0	0	0	0	2	1	9.991993e-01	12	64	0	18	2								-19.976740	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.996658	0.990000	1	9.900000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38622571	38622571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622571G>A	ENST00000333535.4	-	17	3228	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W	SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTCAAACCGTGTTTCCTTG	0.667000																								0							SO:0001583	missense			ENST00000333535.4	1	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956688	0.34565	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.12	1.9	0.25705	Sodium ion transport-associated (1);	1.256210	0.05875	N	0.625338	D	0.88916	0.6567	L	0.59436	1.845	0.09310	N	1	B;D;D;D;D;D;D	0.89917	0.027;0.999;1.0;1.0;1.0;0.999;1.0	B;D;D;D;D;P;D	0.81914	0.019;0.96;0.992;0.995;0.981;0.837;0.967	T	0.73116	-0.4084	10	0.72032	D	0.01	.	8.8191	0.35014	0.0748:0.0:0.4916:0.4336	.	1027;1027;1027;1027;1027;1027;1027	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	1027	ENSP00000398962:R1027W;ENSP00000398266:R1027W;ENSP00000410257:R1027W;ENSP00000388797:R1027W;ENSP00000397915:R1027W;ENSP00000416634:R1027W;ENSP00000328968:R1027W;ENSP00000399524:R1027W;ENSP00000403355:R1027W;ENSP00000413996:R1027W	ENSP00000328968:R1027W	R	-	1	2	SCN5A	38597575	0.000000	0.05858	0.484000	0.27391	0.419000	0.31324	0.408000	0.21065	0.529000	0.28599	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	40	136	0	30	0	0	0	1	0	30	2		0	0	0	0	0	2	1	1	40	132	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38622804	38622804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622804G>A	ENST00000333535.4	-	17	2995	c.2846C>T	c.(2845-2847)gCc>gTc	p.A949V	SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCATCAGGGGCTGTGAGGTT	0.582000																								0							SO:0001583	missense			ENST00000333535.4	1	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543967	0.86022	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96716	-4.01;-4.04;-4.04;-4.02;-4.04;-4.01;-4.04;-4.1;-4.02;-4.02	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.999;0.996;1.0	D;D;D;D;D;P;D	0.85130	0.994;0.985;0.997;0.994;0.994;0.834;0.997	D	0.98974	1.0802	10	0.62326	D	0.03	.	17.6188	0.88075	0.0:0.0:1.0:0.0	.	949;949;949;949;949;949;949	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	949	ENSP00000398962:A949V;ENSP00000398266:A949V;ENSP00000410257:A949V;ENSP00000388797:A949V;ENSP00000397915:A949V;ENSP00000416634:A949V;ENSP00000328968:A949V;ENSP00000399524:A949V;ENSP00000403355:A949V;ENSP00000413996:A949V	ENSP00000328968:A949V	A	-	2	0	SCN5A	38597808	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.500000	0.73687	2.399000	0.81585	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	31	92	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1	29	89	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38639378	38639378	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38639378G>A	ENST00000333535.4	-	14	2253	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000413689.1_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GACATCCACAGCGGGCAGCAC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000333535.4	1	1	hg19	CCDS46796.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	0	0	12	472	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	9.990552e-01	12	465	0	98	2								-3.475589	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.300000	0.160000	1.000000	0.290000	0.351761	0.300000	0	2.200000e-01	4.200000e-01
SCN5A	6331	broad.mit.edu	37	3	38645261	38645261	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38645261G>A	ENST00000333535.4	-	12	1981	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A611V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A611V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGGATGTGGCCTCTGGGTC	0.647000																								0							SO:0001583	missense			ENST00000333535.4	0	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919858	0.33908	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.18	4.18	0.49190	Domain of unknown function DUF3451 (1);	0.829884	0.10873	N	0.624714	D	0.87341	0.6153	L	0.34521	1.04	0.35038	D	0.759426	B;P;B;B;P;P;P	0.44627	0.042;0.684;0.137;0.042;0.631;0.688;0.839	B;B;B;B;B;B;B	0.43536	0.062;0.423;0.085;0.098;0.328;0.218;0.423	D	0.85654	0.1284	10	0.18276	T	0.48	.	16.6938	0.85329	0.0:0.0:1.0:0.0	.	611;611;611;611;611;611;611	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	611	ENSP00000398962:A611V;ENSP00000398266:A611V;ENSP00000410257:A611V;ENSP00000388797:A611V;ENSP00000397915:A611V;ENSP00000416634:A611V;ENSP00000328968:A611V;ENSP00000399524:A611V;ENSP00000403355:A611V;ENSP00000413996:A611V	ENSP00000328968:A611V	A	-	2	0	SCN5A	38620265	1.000000	0.71417	0.992000	0.48379	0.667000	0.39255	7.334000	0.79224	2.164000	0.68074	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	0	0	7	391	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	9.797466e-01	7	386	0	64	2								-6.890271	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.220000	0.090000	1.000000	0.210000	0.276608	0.220000	0	1.500000e-01	3.400000e-01
SCN5A	6331	broad.mit.edu	37	3	38647544	38647544	+	Silent	SNP	G	G	A	rs45565936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38647544G>A	ENST00000333535.4	-	10	1385	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000413689.1_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGCCATTGCGACCACGGCCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000333535.4	1	1	hg19	CCDS46796.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	75	236	0	82	0	0	0	1	0	82	2		0	0	0	0	0	2	1	1	75	231	0	82	2								-3.236967	1	1	121004	46	49	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38739804	38739804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739804G>A	ENST00000449082.2	-	27	4906	c.4907C>T	c.(4906-4908)gCt>gTt	p.A1636V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTCGATGCCAGCCTCCCACCT	0.562000																								0							SO:0001583	missense			ENST00000449082.2	1	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696607	0.48202	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	5.27	5.27	0.74061	Ion transport (1);	0.192153	0.42964	D	0.000638	D	0.95689	0.8598	L	0.49640	1.575	0.38361	D	0.944602	P	0.42827	0.791	B	0.40066	0.318	D	0.93623	0.6949	10	0.20519	T	0.43	.	8.7982	0.34892	0.0786:0.0:0.7599:0.1615	.	1636	Q9Y5Y9	SCNAA_HUMAN	V	1636	ENSP00000390600:A1636V	ENSP00000390600:A1636V	A	-	2	0	SCN10A	38714808	0.052000	0.20516	0.985000	0.45067	0.640000	0.38277	0.683000	0.25349	2.742000	0.94016	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1	151	606	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1	146	596	0	151	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCTGAGGATGCGGCCAATTCG	0.522000																								0							SO:0001583	missense			ENST00000449082.2	1	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806931	0.90623	.	.	ENSG00000185313	ENST00000449082	D	0.99591	-6.24	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97103	3.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.97217	0.9875	10	0.87932	D	0	.	19.406	0.94647	0.0:1.0:0.0:0.0	.	1582	Q9Y5Y9	SCNAA_HUMAN	H	1582	ENSP00000390600:R1582H	ENSP00000390600:R1582H	R	-	2	0	SCN10A	38714970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.822000	0.97130	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	0	0	0	23	612	1	100		0	0	0	1	100	2		0	0	0	0	0	2	1	9.999992e-01	22	604	0	97	2								-2.950232	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.430000	0.280000	1.000000	0.430000	0.473660	0.430000	0	3.500000e-01	5.500000e-01
SCN10A	6336	broad.mit.edu	37	3	38752374	38752374	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38752374G>A	ENST00000449082.2	-	23	4103	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTCCATCCAGCCTTTAAAGG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000449082.2	1	1	hg19	CCDS33736.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1	17	104	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.999699e-01	15	102	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998049	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38753722	38753722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38753722C>T	ENST00000449082.2	-	22	4018	c.4019G>A	c.(4018-4020)aGc>aAc	p.S1340N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCAGAAGAAGCTGCCAGTGGA	0.428000																								0							SO:0001583	missense			ENST00000449082.2	1	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522538	0.13066	.	.	ENSG00000185313	ENST00000449082	D	0.98493	-4.96	4.37	-6.51	0.01878	Ion transport (1);	1.098550	0.06870	N	0.800618	D	0.86171	0.5869	N	0.00191	-1.88	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	D	0.83562	0.0107	10	0.21540	T	0.41	.	6.5023	0.22176	0.0:0.2823:0.3314:0.3862	.	1340	Q9Y5Y9	SCNAA_HUMAN	N	1340	ENSP00000390600:S1340N	ENSP00000390600:S1340N	S	-	2	0	SCN10A	38728726	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-1.875000	0.01634	-1.092000	0.03062	-0.378000	0.06908	AGC		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1	82	465	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	81	451	0	104	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38763851	38763851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38763851C>T	ENST00000449082.2	-	19	3404	c.3405G>A	c.(3403-3405)tgG>tgA	p.W1135*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGCCCACATCCCATGGACTCT	0.562000																								0							SO:0001587	stop_gained			ENST00000449082.2	0	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	38	6.873866	0.97901	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.27	3.29	0.37713	.	0.491076	0.21418	N	0.074877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	5.4099	0.16342	0.0:0.635:0.2138:0.1512	.	.	.	.	X	1135	.	ENSP00000390600:W1135X	W	-	3	0	SCN10A	38738855	0.124000	0.22315	0.278000	0.24718	0.150000	0.21749	0.365000	0.20348	2.221000	0.72209	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1	107	488	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	105	477	0	146	2								-2.894478	1	1	121412	2	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38768102	38768102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768102C>A	ENST00000449082.2	-	16	3081	c.3082G>T	c.(3082-3084)Gga>Tga	p.G1028*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTTACCTGTCCTTTGGGGATC	0.542000																								0							SO:0001587	stop_gained			ENST00000449082.2	0	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	38	6.820651	0.97861	.	.	ENSG00000185313	ENST00000449082	.	.	.	3.84	0.00718	0.14070	.	5.998850	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	7.2493	0.26140	0.0:0.4287:0.0:0.5713	.	.	.	.	X	1028	.	ENSP00000390600:G1028X	G	-	1	0	SCN10A	38743106	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	0.116000	0.15561	-0.014000	0.14175	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	0	53	215	0	35	0	0	0	1	0	35	2		0	0	0	0	0	2	1	1	50	211	0	34	2								-3.308369	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38770385	38770385	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38770385A>G	ENST00000449082.2	-	15	2287	c.2288T>C	c.(2287-2289)gTa>gCa	p.V763A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAGCTTGAATACGCGCAGCTG	0.493000																								0							SO:0001583	missense			ENST00000449082.2	1	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234726	0.79800	.	.	ENSG00000185313	ENST00000449082	D	0.98437	-4.93	4.83	4.83	0.62350	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.85630	2.765	0.54753	D	0.999984	P	0.52170	0.951	P	0.48770	0.589	D	0.98897	1.0775	10	0.87932	D	0	.	14.5588	0.68120	1.0:0.0:0.0:0.0	.	763	Q9Y5Y9	SCNAA_HUMAN	A	763	ENSP00000390600:V763A	ENSP00000390600:V763A	V	-	2	0	SCN10A	38745389	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.083000	0.94067	2.028000	0.59812	0.533000	0.62120	GTA		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1	64	277	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	61	270	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38781010	38781010	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781010C>T	ENST00000449082.2	-	14	2275	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CATTACCAAGCGGAAGCTCCG	0.547000																								0							SO:0001583	missense			ENST00000449082.2	1	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016405	0.93404	.	.	ENSG00000185313	ENST00000449082	D	0.98822	-5.16	4.19	4.19	0.49359	Ion transport (1);	0.116150	0.53938	D	0.000044	D	0.99551	0.9839	H	0.99273	4.495	0.49798	D	0.999823	D	0.89917	1.0	D	0.91635	0.999	D	0.97485	1.0050	10	0.87932	D	0	.	16.7073	0.85375	0.0:1.0:0.0:0.0	.	759	Q9Y5Y9	SCNAA_HUMAN	H	759	ENSP00000390600:R759H	ENSP00000390600:R759H	R	-	2	0	SCN10A	38756014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.823000	0.69272	2.174000	0.68829	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1	43	206	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	42	203	0	57	2								-3.390257	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38781150	38781150	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781150C>T	ENST00000449082.2	-	14	2135	c.2136G>A	c.(2134-2136)atG>atA	p.M712I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	p.M712I(1)		150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTTTGAAGACCATTTCAGCAG	0.433000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000449082.2	1	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530513	0.85706	.	.	ENSG00000185313	ENST00000449082	D	0.97186	-4.28	4.19	3.31	0.37934	Ion transport (1);	0.043664	0.85682	N	0.000000	D	0.96207	0.8763	M	0.79123	2.44	0.43798	D	0.996347	P	0.41498	0.752	B	0.41691	0.364	D	0.95374	0.8467	10	0.87932	D	0	.	11.8844	0.52594	0.0:0.9142:0.0:0.0858	.	712	Q9Y5Y9	SCNAA_HUMAN	I	712	ENSP00000390600:M712I	ENSP00000390600:M712I	M	-	3	0	SCN10A	38756154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	0.975000	0.38392	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1	40	233	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	40	231	0	57	2								-2.847387	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38793718	38793718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38793718C>T	ENST00000449082.2	-	11	1746	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCGAGACATCGACAGCTCCA	0.552000																								0							SO:0001583	missense			ENST00000449082.2	1	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546846	0.27652	.	.	ENSG00000185313	ENST00000449082	D	0.95588	-3.75	4.31	4.31	0.51392	.	6.498510	0.00447	N	0.000092	D	0.90707	0.7084	N	0.08118	0	0.20403	N	0.9999	B	0.15930	0.015	B	0.08055	0.003	T	0.76974	-0.2760	10	0.35671	T	0.21	.	12.5849	0.56412	0.0:1.0:0.0:0.0	.	583	Q9Y5Y9	SCNAA_HUMAN	N	583	ENSP00000390600:D583N	ENSP00000390600:D583N	D	-	1	0	SCN10A	38768722	0.452000	0.25713	0.624000	0.29186	0.300000	0.27592	3.018000	0.49625	2.689000	0.91719	0.462000	0.41574	GAT		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	1	0	1	62	350	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	60	346	0	88	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN10A	6336	broad.mit.edu	37	3	38798295	38798295	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38798295T>C	ENST00000449082.2	-	9	1159	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit			150				Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTTGACCAGGTAGAAAGATCC	0.453000																								0							SO:0001583	missense			ENST00000449082.2	0	1	hg19	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232065	0.79688	.	.	ENSG00000185313	ENST00000449082	D	0.98649	-5.05	5.21	5.21	0.72293	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.95365	3.66	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	D	0.98563	1.0642	10	0.87932	D	0	.	15.5441	0.76081	0.0:0.0:0.0:1.0	.	387	Q9Y5Y9	SCNAA_HUMAN	C	387	ENSP00000390600:Y387C	ENSP00000390600:Y387C	Y	-	2	0	SCN10A	38773299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.317000	0.78254	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	0	0	0	14	737	0	173		0	0	0	0	173	2		0	0	0	0	0	2	1	9.997293e-01	14	727	0	173	2								-3.091476	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.220000	0.120000	1.000000	0.220000	0.276965	0.220000	0	1.700000e-01	3.100000e-01
LRRN1	57633	broad.mit.edu	37	3	3888139	3888139	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3888139C>T	ENST00000319331.3	+	2	2575	c.1814C>T	c.(1813-1815)aCt>aTt	p.T605I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1			26					CATCAGCAGACTCAAAAGTCA	0.478000																								0							SO:0001583	missense			ENST00000319331.3	1	1	hg19	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881468	0.51801	.	.	ENSG00000175928	ENST00000319331	T	0.49432	0.78	5.5	5.5	0.81552	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.152121	0.64402	D	0.000014	T	0.39733	0.1089	L	0.38838	1.175	0.58432	D	0.999998	P	0.37122	0.583	B	0.30646	0.118	T	0.24297	-1.0164	10	0.38643	T	0.18	.	19.7663	0.96342	0.0:1.0:0.0:0.0	.	605	Q6UXK5	LRRN1_HUMAN	I	605	ENSP00000314901:T605I	ENSP00000314901:T605I	T	+	2	0	LRRN1	3863139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.741000	0.93983	0.650000	0.86243	ACT		TCGA-IB-7651-01A-11D-2154-08	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	1	0	1	142	593	0	146	0	4.064840e-01	0	7	0	146	2		0	0	0	0	0	2	1	1	142	582	0	144	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN11A	11280	broad.mit.edu	37	3	38888777	38888777	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38888777A>G	ENST00000302328.3	-	26	4982	c.4784T>C	c.(4783-4785)gTt>gCt	p.V1595A	SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit			119				Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTTGACAACAATGAGAAA	0.393000																								0							SO:0001583	missense			ENST00000302328.3	1	1	hg19	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572899	0.86542	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98717	-5.09;-5.09;-5.09	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	M	0.93507	3.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.98781	1.0732	10	0.87932	D	0	.	15.2886	0.73849	1.0:0.0:0.0:0.0	.	1595	Q9UI33	SCNBA_HUMAN	A	1595;1595;1557	ENSP00000307599:V1595A;ENSP00000400945:V1595A;ENSP00000416757:V1557A	ENSP00000307599:V1595A	V	-	2	0	SCN11A	38863781	1.000000	0.71417	0.772000	0.31596	0.988000	0.76386	9.317000	0.96327	2.006000	0.58801	0.362000	0.22060	GTT		TCGA-IB-7651-01A-11D-2154-08	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	1	0	1	102	388	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	1	100	386	0	97	2								-3.650276	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN11A	11280	broad.mit.edu	37	3	38962576	38962576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38962576C>T	ENST00000302328.3	-	6	1081	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit			119				Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATAAGCTTCCGGGTTACTG	0.448000																								0							SO:0001583	missense			ENST00000302328.3	1	1	hg19	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	6.753	0.507760	0.12883	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96396	-4.0;-4.0;-3.95;-3.86	3.66	-7.31	0.01441	Ion transport (1);	2582.250000	0.00166	N	0.000001	D	0.90130	0.6916	L	0.31476	0.935	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	D	0.84111	0.0401	10	0.20519	T	0.43	.	2.0681	0.03607	0.1205:0.1779:0.2383:0.4633	.	295	Q9UI33	SCNBA_HUMAN	K	295	ENSP00000307599:E295K;ENSP00000400945:E295K;ENSP00000416757:E295K;ENSP00000408028:E295K	ENSP00000307599:E295K	E	-	1	0	SCN11A	38937580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.012000	0.03649	-2.422000	0.00563	0.447000	0.29281	GAA		TCGA-IB-7651-01A-11D-2154-08	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	1	0	1	293	1326	0	322		0	0	0	0	322	2		0	0	0	0	0	2	1	1	284	1305	0	316	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR48	57599	broad.mit.edu	37	3	39111170	39111170	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39111170C>A	ENST00000302313.5	+	7	635	c.607C>A	c.(607-609)Cta>Ata	p.L203I	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48			15					ATGTGCAAAACTAATGAAGCT	0.353000																								0							SO:0001583	missense			ENST00000302313.5	1	1	hg19	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830680	0.50845	.	.	ENSG00000114742	ENST00000302313;ENST00000396258;ENST00000441361	T;T;T	0.61859	2.18;2.17;0.07	5.69	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	L	0.28014	0.82	0.80722	D	1	B;B;B	0.18610	0.012;0.029;0.027	B;B;B	0.19666	0.015;0.023;0.026	T	0.14309	-1.0477	10	0.22109	T	0.4	-2.2119	10.1084	0.42548	0.0:0.7781:0.0:0.2219	.	121;194;203	Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	I	203;121;133	ENSP00000307491:L203I;ENSP00000379557:L121I;ENSP00000416900:L133I	ENSP00000307491:L203I	L	+	1	2	WDR48	39086174	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	3.343000	0.52167	0.822000	0.34565	0.655000	0.94253	CTA		TCGA-IB-7651-01A-11D-2154-08	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	1	0	1	87	418	0	87	1	1	37	89	0	87	2		0	0	0	0	0	2	1	1	85	410	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR48	57599	broad.mit.edu	37	3	39116241	39116241	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39116241A>G	ENST00000302313.5	+	8	725	c.697A>G	c.(697-699)Aca>Gca	p.T233A	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A|WDR48_ENST00000544962.1_Missense_Mutation_p.T25A	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48			15					TTCTGATGGGACAATTCGCCT	0.483000																								0							SO:0001583	missense			ENST00000302313.5	1	1	hg19	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	34	5.361411	0.95877	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.69435	-0.4;1.94;-0.4	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	M	0.79475	2.455	0.80722	D	1	D;P;P;P	0.56035	0.974;0.63;0.825;0.791	D;B;B;B	0.67725	0.953;0.287;0.394;0.41	D	0.83733	0.0199	10	0.66056	D	0.02	1.7488	16.2644	0.82568	1.0:0.0:0.0:0.0	.	25;151;224;233	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	A	233;25;151	ENSP00000307491:T233A;ENSP00000445187:T25A;ENSP00000379557:T151A	ENSP00000307491:T233A	T	+	1	0	WDR48	39091245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.244000	0.73946	0.528000	0.53228	ACA		TCGA-IB-7651-01A-11D-2154-08	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	1	0	1	59	269	0	59	1	9.999626e-01	19	52	0	59	2		0	0	0	0	0	2	1	1	58	268	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR48	57599	broad.mit.edu	37	3	39126162	39126162	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39126162T>G	ENST00000302313.5	+	13	1336	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R|WDR48_ENST00000544962.1_Missense_Mutation_p.S161R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48			15					TGGATGAAAGTGATTGTTTTG	0.358000																								0							SO:0001583	missense			ENST00000302313.5	1	1	hg19	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731475	0.69189	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.89343	1.07;-2.5;0.79	5.61	0.0116	0.14088	.	0.040621	0.85682	D	0.000000	D	0.86920	0.6049	L	0.44542	1.39	0.80722	D	1	B;B;D;P	0.54964	0.062;0.205;0.969;0.946	B;B;P;P	0.55455	0.052;0.193;0.668;0.776	T	0.81437	-0.0933	10	0.16420	T	0.52	-12.911	10.3654	0.44021	0.0:0.3182:0.0:0.6818	.	161;354;427;436	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	R	436;161;354	ENSP00000307491:S436R;ENSP00000445187:S161R;ENSP00000379557:S354R	ENSP00000307491:S436R	S	+	3	2	WDR48	39101166	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.315000	0.19451	0.126000	0.18424	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	1	0	1	65	256	0	39	1	1	20	88	0	39	2		0	0	0	0	0	2	1	1	64	254	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC21A	199223	broad.mit.edu	37	3	39170682	39170682	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39170682G>A	ENST00000431162.2	+	15	2171	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	TTC21A_ENST00000440121.1_Silent_p.A631A|TTC21A_ENST00000301819.6_Silent_p.A680A			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A			50					TGGACGTGGCGCTGAACATGC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000431162.2	1	1	hg19	CCDS46800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	1	0	1	64	320	0	100	0	2.668315e-01	0	6	0	100	2		0	0	0	0	0	2	1	1	63	311	0	99	2								-20.000000	1	1	121188	13	44	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC21A	199223	broad.mit.edu	37	3	39178504	39178504	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39178504C>T	ENST00000431162.2	+	24	3365	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	TTC21A_ENST00000440121.1_Silent_p.N1029N|TTC21A_ENST00000301819.6_Silent_p.N1078N|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A			50					ATCCAGACAACGAGGTTGTGG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000431162.2	1	1	hg19	CCDS46800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	1	0	0	29	249	0	70	0	6.026331e-02	1	3	0	70	2		0	0	0	0	0	2	1	1	29	242	0	70	2								-11.691390	1	1	121052	1	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.850000	1.000000	1.000000	0.990007	0.990000	1	9.900000e-01	1
TTC21A	199223	broad.mit.edu	37	3	39180219	39180219	+	Silent	SNP	C	C	T	rs2293313	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39180219C>T	ENST00000431162.2	+	29	4037	c.3903C>T	c.(3901-3903)ccC>ccT	p.P1301P	TTC21A_ENST00000440121.1_Silent_p.P1253P|TTC21A_ENST00000301819.6_Silent_p.P1302P|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	p.P1302P(1)		50					GGGAGCACCCCGACTACCCCA	0.592000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000431162.2	1	0	hg19	CCDS46800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	0	0	1	58	288	0	62	0	4.652487e-01	1	8	0	62	2		0	0	0	0	0	2	1	1	56	284	0	61	2								-2.219431	0	1	120842	4179	67	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSRNP1	64651	broad.mit.edu	37	3	39186588	39186588	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39186588C>T	ENST00000273153.5	-	3	542	c.365G>A	c.(364-366)cGc>cAc	p.R122H	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1			24					CAAAGAGAAGCGACGGCAAGC	0.607000																								0							SO:0001583	missense			ENST00000273153.5	1	1	hg19	CCDS2682.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.953	0.968776	0.18659	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15834	2.39;2.39	5.14	-3.89	0.04193	.	0.872621	0.10310	N	0.690093	T	0.12092	0.0294	L	0.39245	1.2	0.22001	N	0.999423	B	0.21381	0.055	B	0.12156	0.007	T	0.25950	-1.0117	10	0.39692	T	0.17	-14.4598	9.0115	0.36144	0.1108:0.2384:0.0:0.6507	.	122	Q96S65	CSRN1_HUMAN	H	122	ENSP00000273153:R122H;ENSP00000422532:R122H	ENSP00000273153:R122H	R	-	2	0	CSRNP1	39161592	0.137000	0.22531	0.850000	0.33497	0.072000	0.16883	-0.260000	0.08708	-0.815000	0.04346	-0.993000	0.02533	CGC		TCGA-IB-7651-01A-11D-2154-08	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	1	0	1	54	241	1	55	1	9.609855e-01	11	48	1	55	6		0	0	0	0	0	2	1	1	52	236	0	55	2								-20.000000	1	1	121412	15	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP1	165904	broad.mit.edu	37	3	39225970	39225970	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39225970G>T	ENST00000340369.3	-	2	5195	c.4967C>A	c.(4966-4968)cCt>cAt	p.P1656H	XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1			71					AACCCGAGGAGGGCACAAATA	0.527000																								0							SO:0001583	missense			ENST00000340369.3	1	1	hg19	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	4.719	0.133681	0.09032	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.17213	3.98;2.29	4.75	2.33	0.28932	.	1.456000	0.05177	U	0.500616	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.33846	0.171	T	0.24977	-1.0145	10	0.44086	T	0.13	.	6.6259	0.22828	0.801:0.0:0.199:0.0	.	1656	Q702N8	XIRP1_HUMAN	H	1656;339	ENSP00000343140:P1656H;ENSP00000391645:P339H	ENSP00000343140:P1656H	P	-	2	0	XIRP1	39200974	1.000000	0.71417	0.102000	0.21198	0.099000	0.18886	3.498000	0.53302	0.286000	0.22352	-0.294000	0.09567	CCT		TCGA-IB-7651-01A-11D-2154-08	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	0	0	0	19	461	0	81	0	5.254741e-02	0	9	0	81	2		0	0	0	0	0	2	1	9.999879e-01	19	446	0	80	2								-2.975597	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.480000	0.290000	1.000000	0.460000	0.514890	0.480000	0	3.700000e-01	6.200000e-01
XIRP1	165904	broad.mit.edu	37	3	39228903	39228903	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39228903C>T	ENST00000340369.3	-	2	2262	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R678R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1			71					ATCTCACAGGCCGTCTTCCAC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000340369.3	1	1	hg19	CCDS2683.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	1	0	1	69	284	0	46	0	4.868180e-01	0	8	0	46	2		0	0	0	0	0	2	1	1	67	270	0	44	2								-20.000000	1	1	121412	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP1	165904	broad.mit.edu	37	3	39229562	39229562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229562G>A	ENST00000340369.3	-	2	1603	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L459L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1			71					CCATGGGCCAGAACCTCACCC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000340369.3	1	1	hg19	CCDS2683.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	1	0	0	246	1083	0	250	0	2.336660e-01	0	5	0	250	2		0	0	0	0	0	2	1	1	244	1068	0	249	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XIRP1	165904	broad.mit.edu	37	3	39229727	39229727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229727G>A	ENST00000340369.3	-	2	1438	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1			71					GGATCCACTCGCTGTAGGTGA	0.582000																								0							SO:0001587	stop_gained			ENST00000340369.3	0	1	hg19	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	39	7.305397	0.98200	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	.	.	.	5.17	4.27	0.50696	.	0.118422	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.9849	0.47516	0.0:0.0:0.6612:0.3388	.	.	.	.	X	404	.	ENSP00000343140:R404X	R	-	1	2	XIRP1	39204731	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.495000	0.66912	1.279000	0.44446	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	1	0	0	51	1158	0	205	0	4.397136e-02	0	8	0	205	2		0	0	0	0	0	2	1	1	51	1142	0	201	2								-5.011094	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.500000	0.370000	1.000000	0.500000	0.533728	0.500000	0	4.300000e-01	5.900000e-01
XIRP1	165904	broad.mit.edu	37	3	39230603	39230603	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39230603G>A	ENST00000340369.3	-	2	562	c.334C>T	c.(334-336)Cca>Tca	p.P112S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1			71					TTGGCAGCTGGCCTCTCGTGT	0.597000																								0							SO:0001583	missense			ENST00000340369.3	1	1	hg19	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040298	0.08148	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04603	3.59;3.97	4.93	4.93	0.64822	.	0.160135	0.42420	U	0.000714	T	0.08133	0.0203	N	0.24115	0.695	0.80722	D	1	D;P	0.57899	0.981;0.48	P;B	0.52109	0.69;0.28	T	0.20273	-1.0280	10	0.66056	D	0.02	.	16.048	0.80734	0.0:0.0:1.0:0.0	.	112;112	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	112	ENSP00000379550:P112S;ENSP00000343140:P112S	ENSP00000343140:P112S	P	-	1	0	XIRP1	39205607	1.000000	0.71417	0.286000	0.24833	0.165000	0.22458	2.383000	0.44354	2.465000	0.83290	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	1	0	1	78	317	0	89	0	2.611758e-01	0	5	0	89	2		0	0	0	0	0	2	1	1	77	312	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPSA	3921	broad.mit.edu	37	3	39450202	39450202	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39450202G>T	ENST00000301821.6	+	3	348	c.239G>T	c.(238-240)aGg>aTg	p.R80M	SNORA62_ENST00000365493.1_RNA|SNORA6_ENST00000384033.1_RNA|RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Missense_Mutation_p.R80M	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA			7					ATATCCTCCAGGAATACTGGC	0.388000																								0							SO:0001583	missense			ENST00000301821.6	1	1	hg19	CCDS2686.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753442	0.89753	.	.	ENSG00000168028	ENST00000301821;ENST00000458478;ENST00000443003	T;T;T	0.52057	0.68;0.68;0.68	4.53	4.53	0.55603	Ribosomal protein S2, flavodoxin-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80555	0.4645	H	0.99225	4.475	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	D;P	0.65233	0.933;0.895	D	0.89040	0.3448	10	0.87932	D	0	.	15.1272	0.72493	0.0:0.0:1.0:0.0	.	80;80	C9J9K3;P08865	.;RSSA_HUMAN	M	80	ENSP00000346067:R80M;ENSP00000410848:R80M;ENSP00000389351:R80M	ENSP00000346067:R80M	R	+	2	0	RPSA	39425206	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.463000	0.97652	2.220000	0.72140	0.462000	0.41574	AGG		TCGA-IB-7651-01A-11D-2154-08	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	1	0	0	27	470	0	88	1	1	58	1128	0	88	2		0	0	0	0	0	2	1	9.999999e-01	26	462	0	88	2								-2.879085	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.650000	0.430000	1.000000	0.640000	0.676588	0.650000	0	5.300000e-01	8.100000e-01
MYRIP	25924	broad.mit.edu	37	3	40223778	40223778	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40223778C>T	ENST00000302541.6	+	9	1283	c.941C>T	c.(940-942)tCg>tTg	p.S314L	MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L|MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein			34					GAGGCTCCATCGAGGCAGCCA	0.562000																								0							SO:0001583	missense			ENST00000302541.6	1	1	hg19	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887910	0.33348	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.27	3.49	0.39957	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.047200	0.07557	N	0.916394	T	0.15262	0.0368	L	0.40543	1.245	0.09310	N	1	P;B;B	0.37781	0.608;0.335;0.386	B;B;B	0.27608	0.081;0.037;0.039	T	0.21245	-1.0251	9	.	.	.	.	7.2644	0.26222	0.0:0.426:0.46:0.114	.	225;314;314	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	L	314;314;314;225;127	ENSP00000398665:S314L;ENSP00000301972:S314L;ENSP00000389323:S314L;ENSP00000379519:S225L;ENSP00000438297:S127L	.	S	+	2	0	MYRIP	40198782	0.008000	0.16893	0.002000	0.10522	0.006000	0.05464	1.250000	0.32850	0.618000	0.30179	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	0	0	1	91	393	0	86	0	3.184918e-01	0	6	0	86	2		0	0	0	0	0	2	1	1	90	387	0	85	2								-20.000000	1	1	121412	4	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYRIP	25924	broad.mit.edu	37	3	40251388	40251388	+	Missense_Mutation	SNP	G	G	A	rs146905729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40251388G>A	ENST00000302541.6	+	11	2051	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q|MYRIP_ENST00000459828.1_3'UTR|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein			34					AATGAGGCTCGGGATCCCCAG	0.483000																								0							SO:0001583	missense			ENST00000302541.6	1	1	hg19	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092538	0.08632	2.27E-4	6.98E-4	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.54	-11.1	0.00147	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.219430	0.05706	N	0.595052	T	0.05090	0.0136	N	0.02225	-0.63	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.20739	-1.0266	9	.	.	.	.	4.1303	0.10146	0.3183:0.1099:0.4637:0.1081	.	481;570;570	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	Q	570;570;570;481;383	ENSP00000398665:R570Q;ENSP00000301972:R570Q;ENSP00000389323:R570Q;ENSP00000379519:R481Q;ENSP00000438297:R383Q	.	R	+	2	0	MYRIP	40226392	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	0.017000	0.13399	-2.264000	0.00689	-0.794000	0.03295	CGG		TCGA-IB-7651-01A-11D-2154-08	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	1	0	1	76	367	0	109	0	4.144114e-01	0	8	0	109	2		0	0	0	0	0	2	1	1	74	359	0	108	2								-2.190889	0	1	121410	66	50	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYRIP	25924	broad.mit.edu	37	3	40275428	40275428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40275428G>T	ENST00000302541.6	+	12	2326	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein			34					GTTGATAGCAGGATCTACAGG	0.512000																								0							SO:0001587	stop_gained			ENST00000302541.6	0	1	hg19	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	42	9.731632	0.99249	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	.	.	.	5.79	5.79	0.91817	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	X	662;662;573;475	.	.	G	+	1	0	MYRIP	40250432	1.000000	0.71417	0.870000	0.34147	0.944000	0.59088	6.649000	0.74364	2.733000	0.93635	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	1	0	1	32	287	0	71	0	1.085505e-02	0	2	0	71	2		0	0	0	0	0	2	1	1	32	284	0	71	2								-3.142703	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.830000	1.000000	1.000000	0.987070	0.990000	1	9.900000e-01	1
ZNF619	285267	broad.mit.edu	37	3	40524102	40524102	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40524102G>T	ENST00000314686.5	+	4	509	c.104G>T	c.(103-105)aGa>aTa	p.R35I	ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y|ZNF619_ENST00000447116.2_Missense_Mutation_p.D108Y|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y			Q8N2I2	ZN619_HUMAN	zinc finger protein 619			21					CCCCAAACCAGATCTGATATT	0.532000																								0							SO:0001583	missense			ENST00000314686.5	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.442|8.442	0.851048|0.851048	0.17034|0.17034	.|.	.|.	ENSG00000177873|ENSG00000177873	ENST00000447116;ENST00000429348;ENST00000456778;ENST00000521353;ENST00000432264|ENST00000314686;ENST00000522736	T;T;T;T;T|T;T	0.42900|0.08282	3.3;0.96;3.2;3.3;0.96|3.12;3.11	3.4|3.4	1.53|1.53	0.23141|0.23141	.|.	.|.	.|.	.|.	.|.	T|T	0.06690|0.06690	0.0171|0.0171	L|L	0.45581|0.45581	1.43|1.43	0.21897|0.21897	N|N	0.999483|0.999483	P;P;P;P|P;P	0.40476|0.40476	0.561;0.561;0.718;0.718|0.718;0.718	B;B;B;B|B;B	0.34242|0.31245	0.128;0.088;0.124;0.178|0.126;0.126	T|T	0.30822|0.30822	-0.9965|-0.9965	9|9	0.62326|0.72032	D|D	0.03|0.01	.|.	6.2387|6.2387	0.20778|0.20778	0.1161:0.1962:0.6877:0.0|0.1161:0.1962:0.6877:0.0	.|.	24;68;108;10|35;35	B4E271;C9JRN5;E9PCD9;B7Z9B3|Q17RW3;Q8N2I2	.;.;.;.|.;ZN619_HUMAN	Y|I	108;68;24;108;68|35	ENSP00000411132:D108Y;ENSP00000398024:D68Y;ENSP00000397232:D24Y;ENSP00000430705:D108Y;ENSP00000388710:D68Y|ENSP00000322529:R35I;ENSP00000428004:R35I	ENSP00000398024:D68Y|ENSP00000322529:R35I	D|R	+|+	1|2	0|0	ZNF619|ZNF619	40499106|40499106	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.075000|0.075000	0.17131|0.17131	0.160000|0.160000	0.16462|0.16462	0.770000|0.770000	0.33336|0.33336	0.563000|0.563000	0.77884|0.77884	GAT|AGA		TCGA-IB-7651-01A-11D-2154-08	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	1	0	1	135	611	0	131	1	8.132752e-01	3	13	0	131	2		0	0	0	0	0	2	1	1	131	607	0	129	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF619	285267	broad.mit.edu	37	3	40528333	40528333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528333C>T	ENST00000314686.5	+	6	689	c.284C>T	c.(283-285)gCa>gTa	p.A95V	ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V|ZNF619_ENST00000447116.2_Missense_Mutation_p.A151V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V			Q8N2I2	ZN619_HUMAN	zinc finger protein 619			21					GAAAAAACTGCACAGCTAAAC	0.418000																								0							SO:0001583	missense			ENST00000314686.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.29	1.309264	0.23821	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.14516	3.31;3.43;3.61;3.38;2.5;3.43;3.61	2.87	1.86	0.25419	.	.	.	.	.	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.007;0.012;0.012	B;B;B;B;B;B	0.12156	0.004;0.004;0.004;0.004;0.007;0.007	T	0.25606	-1.0127	9	0.45353	T	0.12	.	3.0755	0.06245	0.2657:0.5829:0.0:0.1513	.	67;111;151;53;102;95	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	V	95;151;111;67;102;151;111	ENSP00000322529:A95V;ENSP00000411132:A151V;ENSP00000398024:A111V;ENSP00000397232:A67V;ENSP00000428004:A102V;ENSP00000430705:A151V;ENSP00000388710:A111V	ENSP00000322529:A95V	A	+	2	0	ZNF619	40503337	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-1.304000	0.02741	1.622000	0.50330	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	1	0	1	49	293	0	88	1	2.135469e-01	4	2	0	88	2		0	0	0	0	0	2	1	1	45	288	0	88	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
ZNF619	285267	broad.mit.edu	37	3	40528415	40528415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528415C>T	ENST00000314686.5	+	6	771	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ZNF619_ENST00000521353.1_Silent_p.D178D|ZNF619_ENST00000447116.2_Silent_p.D178D|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.D129D|ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000432264.2_Silent_p.D138D			Q8N2I2	ZN619_HUMAN	zinc finger protein 619			21					AGCACCCTGACTTCAAGGACA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000314686.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	1	0	0	63	297	0	96	0	7.300399e-01	1	13	0	96	2		0	0	0	0	0	2	1	1	62	289	0	94	2								-20.000000	1	0	121412	2	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF619	285267	broad.mit.edu	37	3	40529531	40529531	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40529531C>T	ENST00000314686.5	+	6	1887	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	ZNF619_ENST00000521353.1_Silent_p.C550C|ZNF619_ENST00000447116.2_Silent_p.C550C|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Silent_p.C501C|ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000432264.2_Silent_p.C510C			Q8N2I2	ZN619_HUMAN	zinc finger protein 619			21					AACATACCTGCTCTGCCCTAG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000314686.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	1	0	0	54	263	0	65	1	9.183063e-01	6	17	0	65	2		0	0	0	0	0	2	1	1	53	249	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF620	253639	broad.mit.edu	37	3	40558249	40558249	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40558249C>T	ENST00000314529.6	+	5	1313	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	ZNF620_ENST00000418905.1_Silent_p.G274G	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620			11					TTCACACTGGCGAGAAACCTT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000314529.6	1	1	hg19	CCDS33740.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	1	0	0	23	276	0	71	0	1.309683e-01	1	7	0	71	2		0	0	0	0	0	2	1	9.999993e-01	23	269	0	69	2								-3.318784	1	1	121412	5	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.920000	0.600000	1.000000	1.000000	0.891627	0.920000	1	7.500000e-01	1
ZNF621	285268	broad.mit.edu	37	3	40571782	40571782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40571782C>T	ENST00000339296.5	+	4	686	c.234C>T	c.(232-234)acC>acT	p.T78T	ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000403205.2_Silent_p.T78T|ZNF621_ENST00000310898.1_Silent_p.T78T	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621			21					CCTGGGACACCGAGATTCTGA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000339296.5	1	1	hg19	CCDS2693.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	1	0	1	64	275	0	57	1	9.987922e-01	11	35	0	57	2		0	0	0	0	0	2	1	1	64	265	0	57	2								-2.746798	1	1	121412	6	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHL1	10752	broad.mit.edu	37	3	407729	407729	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:407729A>G	ENST00000256509.2	+	15	2324	c.1682A>G	c.(1681-1683)aAa>aGa	p.K561R	CHL1-AS1_ENST00000608098.1_RNA|CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.K545R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like			93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)			TCACATTTGAAACACAGTTTG	0.358000																								0							SO:0001583	missense			ENST00000256509.2	1	1	hg19	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	4.950	0.176486	0.09443	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.12147	2.71;2.71	5.18	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.267819	0.42821	N	0.000646	T	0.10035	0.0246	L	0.36672	1.1	0.29378	N	0.863517	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.11329	0.006;0.006;0.003	T	0.20571	-1.0271	10	0.25751	T	0.34	.	8.0794	0.30735	0.8376:0.0:0.1624:0.0	.	545;545;561	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	R	561;545	ENSP00000256509:K561R;ENSP00000380628:K545R	ENSP00000256509:K561R	K	+	2	0	CHL1	382729	0.796000	0.28864	0.018000	0.16275	0.433000	0.31745	1.362000	0.34148	0.383000	0.24910	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	1	0	1	73	289	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	72	282	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNB1	1499	broad.mit.edu	37	3	41266622	41266622	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41266622T>A	ENST00000349496.5	+	4	699	c.419T>A	c.(418-420)aTt>aAt	p.I140N	CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	CTNNB1/PLAG1(60)	3893					GTAAACTTGATTAACTATCAA	0.438000		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of				Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	22	Deletion - In frame(16)|Complex - deletion inframe(6)						SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ENST00000349496.5	1	1	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018389	0.75275	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T;T	0.65549	-0.16;0.94;-0.16;-0.16;-0.16;-0.16	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.973	T	0.81586	-0.0865	10	0.62326	D	0.03	-26.5655	15.7251	0.77751	0.0:0.0:0.0:1.0	.	68;140	B4DSW9;P35222	.;CTNB1_HUMAN	N	140;140;140;140;133;140	ENSP00000385604:I140N;ENSP00000412219:I140N;ENSP00000379486:I140N;ENSP00000344456:I140N;ENSP00000411226:I133N;ENSP00000379488:I140N	ENSP00000344456:I140N	I	+	2	0	CTNNB1	41241626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.175000	0.68902	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	1	82	268	0	61	1	1	178	779	0	61	2		0	0	0	0	0	2	1	1	81	262	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNB1	1499	broad.mit.edu	37	3	41275022	41275022	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275022A>C	ENST00000349496.5	+	9	1468	c.1188A>C	c.(1186-1188)gaA>gaC	p.E396D	CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa		CTNNB1/PLAG1(60)	3893					CTCCATAGGAAGGGATGGAAG	0.433000		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of				Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ENST00000349496.5	1	1	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	7.751	0.703292	0.15172	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.86	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.02181	-0.65	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07539	-1.0767	10	0.08179	T	0.78	-10.668	8.4911	0.33100	0.6984:0.0:0.3016:0.0	.	324;396	B4DSW9;P35222	.;CTNB1_HUMAN	D	396;396;396;389;396	ENSP00000385604:E396D;ENSP00000379486:E396D;ENSP00000344456:E396D;ENSP00000411226:E389D;ENSP00000379488:E396D	ENSP00000344456:E396D	E	+	3	2	CTNNB1	41250026	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.379000	0.44318	0.452000	0.26830	0.533000	0.62120	GAA		TCGA-IB-7651-01A-11D-2154-08	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	1	166	631	0	130	1	1	227	1099	0	130	2		0	0	0	0	0	2	1	1	163	625	0	128	2								-20.000000	1	0	121412	6	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNB1	1499	broad.mit.edu	37	3	41275077	41275077	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275077A>C	ENST00000349496.5	+	9	1523	c.1243A>C	c.(1243-1245)Aat>Cat	p.N415H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa		CTNNB1/PLAG1(60)	3893					AGATGATATAAATGTGGTCAC	0.428000		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of				Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ENST00000349496.5	1	1	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.005703	0.54254	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	M	0.79011	2.435	0.80722	D	1	B;B;B	0.14012	0.004;0.009;0.009	B;B;B	0.12837	0.008;0.008;0.008	T	0.62459	-0.6850	10	0.41790	T	0.15	-0.0228	16.255	0.82510	1.0:0.0:0.0:0.0	.	343;408;415	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	H	415;415;415;408;415	ENSP00000385604:N415H;ENSP00000379486:N415H;ENSP00000344456:N415H;ENSP00000411226:N408H;ENSP00000379488:N415H	ENSP00000344456:N415H	N	+	1	0	CTNNB1	41250081	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	1	159	838	0	158	1	1	182	1169	0	158	2		0	0	0	0	0	2	1	1	153	817	0	157	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNB1	1499	broad.mit.edu	37	3	41275096	41275096	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275096C>T	ENST00000349496.5	+	9	1542	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa		CTNNB1/PLAG1(60)	3893					ACCTGTGCAGCTGGAATTCTT	0.453000		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of				Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ENST00000349496.5	1	1	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780016	0.70222	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.74881	2.28	0.80722	D	1	B;B;B	0.26547	0.152;0.078;0.152	B;B;B	0.24394	0.053;0.023;0.032	T	0.61123	-0.7126	10	0.30854	T	0.27	-15.8016	20.1865	0.98220	0.0:1.0:0.0:0.0	.	349;414;421	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	V	421;421;421;414;421	ENSP00000385604:A421V;ENSP00000379486:A421V;ENSP00000344456:A421V;ENSP00000411226:A414V;ENSP00000379488:A421V	ENSP00000344456:A421V	A	+	2	0	CTNNB1	41250100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	1	160	812	0	146	1	1	170	1042	0	146	2		0	0	0	0	0	2	1	1	155	793	0	145	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNB1	1499	broad.mit.edu	37	3	41275730	41275730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275730G>A	ENST00000349496.5	+	10	1905	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa		CTNNB1/PLAG1(60)	3893					TTGCTTGTTCGTGCACATCAG	0.488000		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of				Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ENST00000349496.5	1	1	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528589	0.64860	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.87	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.82132	2.575	0.80722	D	1	B;P	0.36683	0.383;0.565	B;B	0.24974	0.046;0.057	T	0.68735	-0.5330	10	0.72032	D	0.01	-14.329	16.2705	0.82616	0.0:0.0:0.8662:0.1338	.	470;542	B4DSW9;P35222	.;CTNB1_HUMAN	H	542;542;542;535;542	ENSP00000385604:R542H;ENSP00000379486:R542H;ENSP00000344456:R542H;ENSP00000411226:R535H;ENSP00000379488:R542H	ENSP00000344456:R542H	R	+	2	0	CTNNB1	41250734	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	7.961000	0.87903	1.456000	0.47831	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	1	0	1	56	276	0	67	1	1	241	1168	0	67	2		0	0	0	0	0	2	1	1	56	274	0	66	2								-3.355532	1	1	121412	1	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ULK4	54986	broad.mit.edu	37	3	41746752	41746752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746752C>T	ENST00000301831.4	-	26	3142	c.2680G>A	c.(2680-2682)Gcc>Acc	p.A894T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4			22					TCACCTATGGCTCCATCTATG	0.284000																								0							SO:0001583	missense			ENST00000301831.4	1	1	hg19	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575882	0.86645	.	.	ENSG00000168038	ENST00000301831	T	0.64618	-0.11	5.01	5.01	0.66863	Armadillo-type fold (1);	0.180486	0.33938	U	0.004411	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.72110	-0.4389	10	0.42905	T	0.14	.	18.6636	0.91479	0.0:1.0:0.0:0.0	.	894	Q96C45	ULK4_HUMAN	T	894	ENSP00000301831:A894T	ENSP00000301831:A894T	A	-	1	0	ULK4	41721756	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.226000	0.65299	2.480000	0.83734	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	1	0	1	28	276	0	61	0	1.730327e-01	0	8	0	61	2		0	0	0	0	0	2	1	1	28	270	0	61	2								-10.312940	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.750000	1.000000	1.000000	0.967656	0.990000	1	9.100000e-01	1
ULK4	54986	broad.mit.edu	37	3	41746756	41746756	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746756A>G	ENST00000301831.4	-	26	3138	c.2676T>C	c.(2674-2676)gaT>gaC	p.D892D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4			22					CTATGGCTCCATCTATGTTCG	0.274000																								0							SO:0001819	synonymous_variant			ENST00000301831.4	1	1	hg19	CCDS43071.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	0	0	0	12	298	0	61	0	4.310891e-02	0	8	0	61	2		0	0	0	0	0	2	1	9.990573e-01	12	292	0	61	2								-13.255100	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.470000	0.250000	1.000000	0.460000	0.514266	0.470000	0	3.500000e-01	6.500000e-01
ULK4	54986	broad.mit.edu	37	3	41756938	41756938	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41756938C>A	ENST00000301831.4	-	24	3040		c.e24+1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4			22					TACAATAGTACCTGTGAAGTT	0.393000																								0							SO:0001630	splice_region_variant			ENST00000301831.4	1	1	hg19	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383800	0.61845	.	.	ENSG00000168038	ENST00000301831	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8774	0.96884	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK4	41731942	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	6.775000	0.75018	2.703000	0.92315	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	1	0	1	61	276	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	61	271	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ULK4	54986	broad.mit.edu	37	3	41939937	41939937	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41939937T>C	ENST00000301831.4	-	14	1797	c.1335A>G	c.(1333-1335)ctA>ctG	p.L445L	U8_ENST00000390843.2_RNA|ULK4_ENST00000420927.1_Silent_p.L445L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4			22					AATATGTTGGTAGATGCAATA	0.284000																								0							SO:0001819	synonymous_variant			ENST00000301831.4	1	1	hg19	CCDS43071.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	1	0	1	103	378	0	121	0	6.065919e-01	1	8	0	121	2		0	0	0	0	0	2	1	1	102	376	0	121	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAK1	22906	broad.mit.edu	37	3	42167076	42167076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42167076G>A	ENST00000327628.5	+	2	656	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1			22					CCTCACAACCGAGCAAATTGA	0.448000													GBM(44;195 884 22595 31865 41850)											0							SO:0001583	missense			ENST00000327628.5	1	1	hg19	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246109	0.95272	2.56E-4	0.0	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.18338	2.22	5.73	5.73	0.89815	.	0.135083	0.47455	D	0.000222	T	0.40398	0.1115	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.01925	-1.1246	10	0.24483	T	0.36	.	18.8873	0.92383	0.0:0.0:1.0:0.0	.	86;86	B7Z347;Q9UPV9	.;TRAK1_HUMAN	K	86	ENSP00000328998:E86K	ENSP00000328998:E86K	E	+	1	0	TRAK1	42142080	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	9.869000	0.99810	2.708000	0.92522	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	0	0	0	17	566	0	127	1	7.358304e-01	6	82	0	127	2		0	0	0	0	0	2	1	9.999595e-01	17	555	0	127	2								-2.457955	0	1	120884	2	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.350000	0.210000	1.000000	0.340000	0.396816	0.350000	0	2.700000e-01	4.700000e-01
TRAK1	22906	broad.mit.edu	37	3	42226281	42226281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42226281C>T	ENST00000327628.5	+	4	868	c.468C>T	c.(466-468)caC>caT	p.H156H	TRAK1_ENST00000396175.1_Silent_p.H98H|TRAK1_ENST00000449246.1_Silent_p.H82H|TRAK1_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1			22					AGGTGGAACACATCAGGGAGG	0.582000													GBM(44;195 884 22595 31865 41850)											0							SO:0001819	synonymous_variant			ENST00000327628.5	1	1	hg19	CCDS43072.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	0	0	0	21	700	0	131	1	9.879238e-01	15	221	0	131	2		0	0	0	0	0	2	1	9.999970e-01	22	687	0	130	2								-3.443548	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.350000	0.220000	1.000000	0.350000	0.393567	0.350000	0	2.800000e-01	4.500000e-01
TRAK1	22906	broad.mit.edu	37	3	42234671	42234671	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42234671G>A	ENST00000327628.5	+	8	1274	c.874G>A	c.(874-876)Gtt>Att	p.V292I	TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I|TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I|TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1			22					ATCGCAAATAGTTGATTTGCA	0.478000													GBM(44;195 884 22595 31865 41850)											0							SO:0001583	missense			ENST00000327628.5	1	1	hg19	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372768	0.82573	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.47078	0.1426	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.998;0.998;0.996;0.972;1.0	D;D;D;D;P;D	0.83275	0.994;0.996;0.996;0.99;0.899;0.984	T	0.26985	-1.0087	10	0.59425	D	0.04	.	19.2263	0.93819	0.0:0.0:1.0:0.0	.	218;234;292;234;218;292	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	I	292;292;218;234;234;35	ENSP00000328998:V292I;ENSP00000410717:V218I;ENSP00000379478:V234I;ENSP00000340702:V234I;ENSP00000413729:V35I	ENSP00000328998:V292I	V	+	1	0	TRAK1	42209675	1.000000	0.71417	0.116000	0.21606	0.491000	0.33493	9.799000	0.99117	2.779000	0.95612	0.637000	0.83480	GTT		TCGA-IB-7651-01A-11D-2154-08	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	0	0	1	83	307	0	82	1	1	60	136	0	82	2		0	0	0	0	0	2	1	1	81	303	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAK1	22906	broad.mit.edu	37	3	42236404	42236404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42236404C>T	ENST00000327628.5	+	10	1484	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C|TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C|TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1			22					CACGTCTCGGCGCTACCACTC	0.572000													GBM(44;195 884 22595 31865 41850)											0							SO:0001583	missense			ENST00000327628.5	1	1	hg19	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879276	0.91740	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.15834	2.95;2.98;2.96;2.97;2.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;P;P	0.79108	0.959;0.959;0.973;0.992;0.871;0.871	T	0.08126	-1.0737	10	0.42905	T	0.14	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	288;304;362;304;288;362	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	C	362;362;288;304;304;80	ENSP00000328998:R362C;ENSP00000410717:R288C;ENSP00000379478:R304C;ENSP00000340702:R304C;ENSP00000413729:R80C	ENSP00000328998:R362C	R	+	1	0	TRAK1	42211408	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.869000	0.69613	2.882000	0.98803	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	1	0	1	25	85	0	33	1	1	87	212	0	33	2		0	0	0	0	0	2	1	9.999999e-01	25	84	0	33	2								-20.000000	1	1	121412	1	22	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
VIPR1	7433	broad.mit.edu	37	3	42568884	42568884	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42568884G>T	ENST00000325123.4	+	5	512		c.e5-1		VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000433647.1_Splice_Site|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000473575.1_Splice_Site|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000543411.1_Intron|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000602176.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1			18					CCCTCCAACAGCAGCAGACCA	0.617000																								0							SO:0001630	splice_region_variant			ENST00000325123.4	1	1	hg19	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.793086	0.31685	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000439731;ENST00000325123	.	.	.	4.71	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5622	0.50782	0.0:0.3435:0.6565:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VIPR1	42543888	0.213000	0.23551	0.574000	0.28523	0.233000	0.25261	0.192000	0.17096	1.050000	0.40346	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	1	0	1	60	325	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	59	313	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKTR	4820	broad.mit.edu	37	3	42672059	42672059	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42672059C>T	ENST00000232978.8	+	7	584	c.396C>T	c.(394-396)caC>caT	p.H132H	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor			41					CTGCTCCACACCTGGATGGGT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000232978.8	1	1	hg19	CCDS2702.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	1	0	1	62	299	0	90	1	9.087834e-01	5	17	0	90	2		0	0	0	0	0	2	1	1	62	295	0	89	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKTR	4820	broad.mit.edu	37	3	42681067	42681067	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42681067C>T	ENST00000232978.8	+	13	4059	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor			41					AAACCGTAGACCAAGAAATCA	0.428000																								0							SO:0001583	missense			ENST00000232978.8	1	1	hg19	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165595	0.78339	.	.	ENSG00000114857	ENST00000232978	T	0.20069	2.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60229	-0.7304	10	0.87932	D	0	-17.7678	19.4228	0.94729	0.0:1.0:0.0:0.0	.	991;1291	Q6M1B8;P30414	.;NKTR_HUMAN	S	1291	ENSP00000232978:P1291S	ENSP00000232978:P1291S	P	+	1	0	NKTR	42656071	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.663000	0.90544	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	1	0	1	65	289	0	68	1	9.996568e-01	14	41	0	68	2		0	0	0	0	0	2	1	1	65	287	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKTR	4820	broad.mit.edu	37	3	42685488	42685488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42685488C>T	ENST00000232978.8	+	16	4482	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor			41					TTATAATCGGCGGTCCAGGTG	0.527000																								0							SO:0001583	missense			ENST00000232978.8	1	1	hg19	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293489	0.60086	.	.	ENSG00000114857	ENST00000232978	T	0.23950	1.88	5.52	4.64	0.57946	.	0.060738	0.64402	N	0.000004	T	0.26085	0.0636	M	0.72894	2.215	0.80722	D	1	P;P	0.41710	0.76;0.647	B;B	0.34873	0.191;0.048	T	0.09796	-1.0658	10	0.87932	D	0	-3.2097	9.981	0.41813	0.1459:0.7803:0.0:0.0738	.	1132;1432	Q6M1B8;P30414	.;NKTR_HUMAN	W	1432	ENSP00000232978:R1432W	ENSP00000232978:R1432W	R	+	1	2	NKTR	42660492	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.085000	0.30840	1.341000	0.45600	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	1	0	1	24	165	0	43	1	9.193263e-01	6	26	0	43	2		0	0	0	0	0	2	1	9.999998e-01	24	163	0	43	2								-3.144982	1	1	121412	8	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998223	0.990000	1	9.900000e-01	1
ZBTB47	92999	broad.mit.edu	37	3	42705408	42705408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42705408C>T	ENST00000232974.6	+	5	2138	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	ZBTB47_ENST00000505904.1_Silent_p.F165F|ZBTB47_ENST00000457842.3_Silent_p.F243F			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47			13					AGCAGTACTTCGATGAGCACA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000232974.6	1	1	hg19	CCDS46805.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	1	0	0	25	89	0	25	1	9.999997e-01	12	88	0	25	2		0	0	0	0	0	2	1	9.999999e-01	25	88	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CCDC13	152206	broad.mit.edu	37	3	42775003	42775003	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42775003C>T	ENST00000310232.6	-	11	1553	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13			25					CTGCTGAGGCCGGGGACTTGG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000310232.6	1	1	hg19	CCDS2705.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	0	0	1	215	1027	1	219		0	0	0	1	219	2		0	0	0	0	0	2	1	1	213	1007	1	210	20								-3.322554	1	1	121412	11	44	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC13	152206	broad.mit.edu	37	3	42777266	42777266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42777266G>A	ENST00000310232.6	-	10	1387	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13			25					AGCTACCATGGCCTGCAGCTG	0.602000																								0							SO:0001583	missense			ENST00000310232.6	1	1	hg19	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581586	0.28180	.	.	ENSG00000244607	ENST00000310232	T	0.24538	1.85	4.76	3.78	0.43462	.	0.732062	0.12831	N	0.435649	T	0.28300	0.0699	L	0.56769	1.78	0.24385	N	0.994771	P	0.46512	0.879	B	0.43536	0.423	T	0.08229	-1.0732	10	0.30078	T	0.28	.	11.422	0.49987	0.0:0.0:0.7064:0.2935	.	435	Q8IYE1	CCD13_HUMAN	V	435	ENSP00000309836:A435V	ENSP00000309836:A435V	A	-	2	0	CCDC13	42752270	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.925000	0.48884	2.202000	0.70862	0.511000	0.50034	GCC		TCGA-IB-7651-01A-11D-2154-08	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	1	0	1	87	474	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	86	463	0	103	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC13	152206	broad.mit.edu	37	3	42781273	42781273	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42781273C>T	ENST00000310232.6	-	9	1100	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13			25					CAAGCTCTCTCTGGAGGACAT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000310232.6	1	1	hg19	CCDS2705.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	1	0	0	82	371	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	80	365	0	93	2								-3.221107	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACKR2	1238	broad.mit.edu	37	3	42906716	42906716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42906716G>T	ENST00000422265.1	+	3	897	c.722G>T	c.(721-723)aGg>aTg	p.R241M	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R241M|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.R241M	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2								GTGAGGCTGAGGCCCGCAGGC	0.537000																								0							SO:0001583	missense			ENST00000422265.1	0	0	hg19	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077645	0.36662	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.40476	1.03;1.03;1.03	4.49	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.353818	0.19894	N	0.103664	T	0.56978	0.2022	M	0.82630	2.6	0.09310	N	0.999997	D	0.57571	0.98	P	0.58780	0.845	T	0.49513	-0.8932	9	.	.	.	.	7.5575	0.27833	0.2964:0.0:0.7036:0.0	.	241	O00590	CCBP2_HUMAN	M	241	ENSP00000396150:R241M;ENSP00000416996:R241M;ENSP00000273145:R241M	.	R	+	2	0	CCBP2	42881720	0.001000	0.12720	0.988000	0.46212	0.545000	0.35147	-0.247000	0.08866	0.134000	0.18681	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	1	0	1	150	793	0	140	0	3.109210e-01	1	6	0	140	2		0	0	0	0	0	2	1	1	148	772	0	137	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP8B1	1582	broad.mit.edu	37	3	42916392	42916392	+	Missense_Mutation	SNP	C	C	T	rs148690797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42916392C>T	ENST00000316161.4	-	1	1241	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	p.R306Q(1)		23					CCTCACAGCCCGAATAGCTTC	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000316161.4	1	1	hg19	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	4.763	0.141844	0.09083	2.27E-4	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01252	5.1;5.1	5.39	-10.3	0.00346	.	0.685302	0.12927	N	0.427656	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B;B	0.22080	0.064;0.003	B;B	0.16289	0.015;0.009	T	0.43393	-0.9394	10	0.19590	T	0.45	-4.7685	9.862	0.41120	0.0:0.4397:0.0963:0.4639	.	306;306	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	306	ENSP00000404499:R306Q;ENSP00000318867:R306Q	ENSP00000318867:R306Q	R	-	2	0	CYP8B1	42891396	0.005000	0.15991	0.041000	0.18516	0.219000	0.24729	-0.442000	0.06871	-1.750000	0.01328	-1.069000	0.02264	CGG		TCGA-IB-7651-01A-11D-2154-08	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	1	0	1	37	128	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	36	126	0	24	2								-20.000000	1	1	121400	3	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF662	389114	broad.mit.edu	37	3	42956202	42956202	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956202A>C	ENST00000541208.1	+	5	1006	c.637A>C	c.(637-639)Act>Cct	p.T213P	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P|ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P			Q6ZS27	ZN662_HUMAN	zinc finger protein 662			15					ACACCAGAAAACTCATAATGG	0.378000																								0							SO:0001583	missense			ENST00000541208.1	1	1	hg19	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	9.854	1.194592	0.22037	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.20598	2.06;2.06;2.06	3.29	0.801	0.18679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24699	0.0599	M	0.62723	1.935	0.23550	N	0.997432	B;B	0.31859	0.332;0.343	B;B	0.39217	0.148;0.294	T	0.31806	-0.9930	9	0.87932	D	0	.	6.2962	0.21087	0.7706:0.0:0.2294:0.0	.	239;213	F8W7S8;Q6ZS27	.;ZN662_HUMAN	P	213;239;213	ENSP00000405047:T213P;ENSP00000329264:T239P;ENSP00000446208:T213P	ENSP00000329264:T239P	T	+	1	0	ZNF662	42931206	0.000000	0.05858	0.314000	0.25224	0.475000	0.33008	0.550000	0.23345	0.062000	0.16340	0.454000	0.30748	ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	1	0	1	108	438	0	91	0	2.608566e-01	0	5	0	91	2		0	0	0	0	0	2	1	1	106	429	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF662	389114	broad.mit.edu	37	3	42956386	42956386	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956386A>C	ENST00000541208.1	+	5	1190	c.821A>C	c.(820-822)aAa>aCa	p.K274T	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T|ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662			15					ACTGGAGAGAAACCCTTTGAA	0.438000																								0							SO:0001583	missense			ENST00000541208.1	1	1	hg19	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210838	0.39102	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.24908	1.83;1.83;1.83	3.17	3.17	0.36434	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49064	0.1535	M	0.77616	2.38	0.29025	N	0.886078	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	T	0.40327	-0.9569	9	0.87932	D	0	.	9.7081	0.40229	1.0:0.0:0.0:0.0	.	300;274	F8W7S8;Q6ZS27	.;ZN662_HUMAN	T	274;300;274	ENSP00000405047:K274T;ENSP00000329264:K300T;ENSP00000446208:K274T	ENSP00000329264:K300T	K	+	2	0	ZNF662	42931390	0.523000	0.26274	1.000000	0.80357	0.994000	0.84299	1.259000	0.32956	1.468000	0.48064	0.454000	0.30748	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	1	0	1	64	319	0	64	0	2.886751e-02	0	2	0	64	2		0	0	0	0	0	2	1	1	64	312	0	64	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF662	389114	broad.mit.edu	37	3	42956571	42956571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956571G>A	ENST00000541208.1	+	5	1375	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N			Q6ZS27	ZN662_HUMAN	zinc finger protein 662			15					CGAATGTAAGGACTGTGGGAA	0.488000																								0							SO:0001583	missense			ENST00000541208.1	1	1	hg19	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673663	0.47781	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.07327	3.2;3.2;3.2	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.25485	0.75	0.23162	N	0.998194	B;B	0.33919	0.378;0.432	B;B	0.33392	0.101;0.163	T	0.28808	-1.0032	9	0.87932	D	0	.	11.6396	0.51224	0.0:0.0:1.0:0.0	.	362;336	F8W7S8;Q6ZS27	.;ZN662_HUMAN	N	336;362;336	ENSP00000405047:D336N;ENSP00000329264:D362N;ENSP00000446208:D336N	ENSP00000329264:D362N	D	+	1	0	ZNF662	42931575	0.003000	0.15002	0.985000	0.45067	0.969000	0.65631	0.686000	0.25392	1.665000	0.50811	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	1	0	1	62	204	0	72	0	5.915105e-01	0	8	0	72	2		0	0	0	0	0	2	1	1	60	200	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHL1	10752	broad.mit.edu	37	3	433368	433368	+	Silent	SNP	G	G	A	rs140090602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:433368G>A	ENST00000256509.2	+	23	3444	c.2802G>A	c.(2800-2802)caG>caA	p.Q934Q	CHL1_ENST00000397491.2_Silent_p.Q918Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like			93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)			TACCTGAACAGCCAACTTTTC	0.299000																								0							SO:0001819	synonymous_variant			ENST00000256509.2	1	1	hg19	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743787	0.15642	2.27E-4	0.0	ENSG00000134121	ENST00000445697	.	.	.	5.62	-0.555	0.11807	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54323	-0.8311	4	.	.	.	.	10.9911	0.47549	0.5608:0.0:0.4392:0.0	.	.	.	.	N	121	.	.	S	+	2	0	CHL1	408368	0.001000	0.12720	0.997000	0.53966	0.992000	0.81027	-1.298000	0.02756	0.033000	0.15463	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	1	0	1	59	329	0	64	0	2.400157e-02	0	2	0	64	2		0	0	0	0	0	2	1	1	57	327	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNRK	54861	broad.mit.edu	37	3	43344702	43344702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43344702G>T	ENST00000296088.7	+	3	311	c.7G>T	c.(7-9)Gga>Tga	p.G3*	SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*	NM_017719.4	NP_060189.3			SNF related kinase			27					CAGCATGGCAGGATTTAAGCG	0.363000																								0							SO:0001587	stop_gained			ENST00000296088.7	0	1	hg19	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	40	8.126873	0.98667	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	.	.	.	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8493	0.85989	0.0:0.1286:0.8714:0.0	.	.	.	.	X	3	.	ENSP00000296088:G3X	G	+	1	0	SNRK	43319706	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	1.425000	0.47237	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	1	0	0	51	251	0	63	1	9.999965e-01	23	72	0	63	2		0	0	0	0	0	2	1	1	50	247	0	62	2								-2.817451	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNRK	54861	broad.mit.edu	37	3	43389079	43389079	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43389079T>G	ENST00000296088.7	+	7	1632	c.1328T>G	c.(1327-1329)tTc>tGc	p.F443C	SNRK_ENST00000429705.2_Missense_Mutation_p.F443C|SNRK_ENST00000437827.1_Missense_Mutation_p.F237C|RP11-188P20.3_ENST00000607513.1_RNA|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C	NM_017719.4	NP_060189.3			SNF related kinase			27					AAGTGTCTGTTCAGGGTGGAA	0.537000																								0							SO:0001583	missense			ENST00000296088.7	1	1	hg19	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423784	0.62733	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.68479	-0.33;-0.33;-0.33;2.39	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.44542	1.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.68192	0.956	T	0.73751	-0.3884	10	0.39692	T	0.17	.	14.3828	0.66923	0.0:0.0:0.0:1.0	.	443	Q9NRH2	SNRK_HUMAN	C	443;443;443;237	ENSP00000401246:F443C;ENSP00000411375:F443C;ENSP00000296088:F443C;ENSP00000409516:F237C	ENSP00000296088:F443C	F	+	2	0	SNRK	43364083	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.685000	0.68204	1.867000	0.54127	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	1	0	1	44	150	0	42	1	1	44	120	0	42	2		0	0	0	0	0	2	1	1	43	150	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANO10	55129	broad.mit.edu	37	3	43640110	43640110	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43640110T>C	ENST00000292246.3	-	4	556	c.386A>G	c.(385-387)aAa>aGa	p.K129R	ANO10_ENST00000414522.2_Missense_Mutation_p.K129R|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R|ANO10_ENST00000451430.2_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10			29					AAGTTCATGTTTGATAATGAA	0.289000																								0							SO:0001583	missense			ENST00000292246.3	1	1	hg19	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732828	0.89482	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141	T;T;T;T;T;T;D;D;D	0.86030	0.14;-0.74;0.16;0.17;1.98;1.93;-2.06;-2.06;-2.06	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.66297	2.02	0.80722	D	1	P;D;P;P	0.71674	0.897;0.998;0.569;0.897	P;D;B;P	0.80764	0.562;0.994;0.382;0.562	D	0.88224	0.2899	10	0.19147	T	0.46	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	129;129;63;129	C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	R	129;129;63;129;129;129;129;129;129	ENSP00000292246:K129R;ENSP00000327767:K129R;ENSP00000379398:K63R;ENSP00000396990:K129R;ENSP00000406432:K129R;ENSP00000402010:K129R;ENSP00000402845:K129R;ENSP00000399103:K129R;ENSP00000397360:K129R	ENSP00000292246:K129R	K	-	2	0	ANO10	43615114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.054000	0.76649	2.244000	0.73946	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	1	0	1	20	96	0	38	1	9.999598e-01	27	60	0	38	2		0	0	0	0	0	2	1	9.999968e-01	19	94	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999862	0.990000	1	9.900000e-01	1
ZNF445	353274	broad.mit.edu	37	3	44488939	44488939	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44488939A>G	ENST00000396077.2	-	8	2571	c.2224T>C	c.(2224-2226)Tct>Cct	p.S742P	ZNF445_ENST00000425708.2_Missense_Mutation_p.S742P	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445			31					TGACTAAAAGATGGCCCGCCC	0.493000																								0							SO:0001583	missense			ENST00000396077.2	1	1	hg19	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	a	6.331	0.429117	0.11987	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.07114	3.22;3.22	3.49	-1.7	0.08159	.	0.978073	0.08342	N	0.960721	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.42275	-0.9461	10	0.54805	T	0.06	.	4.0757	0.09902	0.5766:0.0:0.2754:0.148	.	730;742	B7ZKX2;P59923	.;ZN445_HUMAN	P	742	ENSP00000413073:S742P;ENSP00000379387:S742P	ENSP00000379387:S742P	S	-	1	0	ZNF445	44463943	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-1.272000	0.02826	-0.315000	0.08703	0.255000	0.18592	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	1	0	1	60	454	0	91	1	8.886526e-01	2	29	0	91	2		0	0	0	0	0	2	1	1	58	449	0	91	2								-19.993560	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999754	0.990000	1	9.900000e-01	1
ZNF445	353274	broad.mit.edu	37	3	44492866	44492866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44492866C>T	ENST00000396077.2	-	4	885	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	ZNF445_ENST00000425708.2_Missense_Mutation_p.G180R	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445			31					AGGTGGTCCCCCAGAGCAGAG	0.587000																								0							SO:0001583	missense			ENST00000396077.2	1	1	hg19	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.319933	0.41096	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.05855	3.38;3.38	4.63	2.73	0.32206	.	0.311846	0.23426	N	0.048304	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	P;P	0.50272	0.933;0.933	P;P	0.45913	0.497;0.497	T	0.30909	-0.9962	10	0.40728	T	0.16	.	7.562	0.27857	0.1891:0.6282:0.1827:0.0	.	180;180	B7ZKX2;P59923	.;ZN445_HUMAN	R	180;180;173;178	ENSP00000413073:G180R;ENSP00000379387:G180R	ENSP00000342436:G173R	G	-	1	0	ZNF445	44467870	0.000000	0.05858	0.140000	0.22221	0.991000	0.79684	0.103000	0.15292	0.625000	0.30304	0.491000	0.48974	GGG		TCGA-IB-7651-01A-11D-2154-08	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	1	0	1	154	622	0	157	1	7.207620e-01	5	7	0	157	2		0	0	0	0	0	2	1	1	148	606	1	157	17								-2.766352	1	1	121412	4	42	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF445	353274	broad.mit.edu	37	3	44497024	44497024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44497024C>T	ENST00000396077.2	-	3	365	c.18G>A	c.(16-18)tgG>tgA	p.W6*	ZNF445_ENST00000425708.2_Nonsense_Mutation_p.W6*	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445			31					AGGCAGCATGCCACCTGCCTG	0.547000																								0							SO:0001587	stop_gained			ENST00000396077.2	0	1	hg19	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876041	0.72180	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	.	.	.	4.02	2.16	0.27623	.	0.195054	0.25935	N	0.027348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.4626	0.44590	0.0:0.6173:0.3827:0.0	.	.	.	.	X	6	.	ENSP00000342436:W6X	W	-	3	0	ZNF445	44472028	0.086000	0.21541	0.614000	0.29051	0.414000	0.31173	0.126000	0.15769	0.621000	0.30232	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	1	0	0	58	281	0	70	1	4.749730e-01	2	7	0	70	2		0	0	0	0	0	2	1	1	58	277	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF660	285349	broad.mit.edu	37	3	44635870	44635870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44635870G>T	ENST00000322734.2	+	3	518	c.185G>T	c.(184-186)aGt>aTt	p.S62I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660			6					TTTAGTCAGAGTGCAAACCTC	0.438000																								0							SO:0001583	missense			ENST00000322734.2	1	1	hg19	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765432	0.49574	.	.	ENSG00000144792	ENST00000322734	T	0.07800	3.16	4.46	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.25332	0.735	0.25836	N	0.984119	B	0.24576	0.106	B	0.23150	0.044	T	0.30060	-0.9991	8	.	.	.	.	5.1292	0.14901	0.1005:0.0:0.5758:0.3236	.	62	Q6AZW8	ZN660_HUMAN	I	62	ENSP00000324605:S62I	.	S	+	2	0	ZNF660	44610874	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.305000	0.08188	2.469000	0.83416	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	1	0	1	77	227	0	69	0	6.559366e-02	0	2	0	69	2		0	0	0	0	0	2	1	1	75	219	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF660	285349	broad.mit.edu	37	3	44636401	44636401	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44636401T>G	ENST00000322734.2	+	3	1049	c.716T>G	c.(715-717)cTt>cGt	p.L239R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660			6					CACCAGAGACTTCATCGTAGA	0.388000																								0							SO:0001583	missense			ENST00000322734.2	0	1	hg19	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454121	0.63290	.	.	ENSG00000144792	ENST00000322734	T	0.13307	2.6	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	N	0.16016	0.355	0.80722	D	1	D	0.55385	0.971	P	0.46144	0.505	T	0.24870	-1.0148	8	.	.	.	.	12.9362	0.58316	0.0:0.0:0.0:1.0	.	239	Q6AZW8	ZN660_HUMAN	R	239	ENSP00000324605:L239R	.	L	+	2	0	ZNF660	44611405	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.376000	0.20535	1.943000	0.56356	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	0	0	0	9	397	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	9.936537e-01	9	387	0	69	2								-8.668026	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.270000	0.130000	1.000000	0.260000	0.326472	0.270000	0	1.900000e-01	4.000000e-01
ZNF35	7584	broad.mit.edu	37	3	44700999	44700999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44700999C>T	ENST00000396056.2	+	4	1379	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35			12		Ovarian(412;0.0228)			TGTACATCAGCGAAGCCATAC	0.468000																								0							SO:0001587	stop_gained			ENST00000396056.2	0	1	hg19	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	C	36	5.886527	0.97068	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	.	.	.	5.29	3.41	0.39046	.	0.000000	0.37669	N	0.001982	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7148	12.6574	0.56795	0.4732:0.5268:0.0:0.0	.	.	.	.	X	382;222	.	ENSP00000379368:R382X	R	+	1	2	ZNF35	44676003	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.397000	0.07269	1.441000	0.47550	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	1	0	1	41	213	0	70	1	9.239532e-01	3	22	0	70	2		0	0	0	0	0	2	1	1	40	212	0	69	2								-3.348300	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZNF502	91392	broad.mit.edu	37	3	44763223	44763223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44763223G>A	ENST00000296091.4	+	4	1170	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q|ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502			19					TCTTCTTTTCGAAAACACTCA	0.408000																								0							SO:0001583	missense			ENST00000296091.4	1	1	hg19	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.531824|2.531824	0.45073|0.45073	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.18338	.|2.22;2.22;2.22	4.27|4.27	2.42|2.42	0.29668|0.29668	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.14570|0.14570	0.0352|0.0352	L|L	0.45698|0.45698	1.435|1.435	0.09310|0.09310	N|N	1|1	.|P	.|0.46987	.|0.888	.|B	.|0.42593	.|0.392	T|T	0.20306|0.20306	-1.0279|-1.0279	6|9	0.33141|0.62326	T|D	0.24|0.03	-0.978|-0.978	2.7889|2.7889	0.05381|0.05381	0.102:0.1842:0.5241:0.1897|0.102:0.1842:0.5241:0.1897	.|.	.|305	.|Q8TBZ5	.|ZN502_HUMAN	K|Q	305|305	.|ENSP00000397390:R305Q;ENSP00000296091:R305Q;ENSP00000406469:R305Q	ENSP00000397812:E305K|ENSP00000296091:R305Q	E|R	+|+	1|2	0|0	ZNF502|ZNF502	44738227|44738227	0.000000|0.000000	0.05858|0.05858	0.261000|0.261000	0.24466|0.24466	0.936000|0.936000	0.57629|0.57629	-0.329000|-0.329000	0.07935|0.07935	0.540000|0.540000	0.28808|0.28808	0.655000|0.655000	0.94253|0.94253	GAA|CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	1	0	1	203	867	0	190	0	3.957556e-01	1	6	0	190	2		0	0	0	0	0	2	1	1	197	850	0	189	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF501	115560	broad.mit.edu	37	3	44776675	44776675	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44776675C>A	ENST00000396048.2	+	3	1199	c.762C>A	c.(760-762)tcC>tcA	p.S254S	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501			11					GTGGGAAATCCTTTAGGCACA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000396048.2	1	1	hg19	CCDS2720.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	1	0	1	58	251	0	60	1	9.086171e-01	2	18	0	60	2		0	0	0	0	0	2	1	1	56	247	0	60	2								-2.761961	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1143	57456	broad.mit.edu	37	3	44803019	44803019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44803019C>T	ENST00000296121.4	-	1	135	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	KIF15_ENST00000326047.4_5'Flank|KIAA1143_ENST00000484437.1_5'Flank	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143			5					TCCCTGTAGCCGACCCGTTCC	0.592000																								0							SO:0001583	missense			ENST00000296121.4	1	1	hg19	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828275	0.96996	.	.	ENSG00000163807	ENST00000296121	T	0.56444	0.46	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78555	-0.2159	9	.	.	.	-14.2314	18.8395	0.92177	0.0:1.0:0.0:0.0	.	26	Q96AT1	K1143_HUMAN	S	26	ENSP00000296121:G26S	.	G	-	1	0	KIAA1143	44778023	1.000000	0.71417	0.982000	0.44146	0.922000	0.55478	5.590000	0.67530	2.762000	0.94881	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	1	0	1	52	212	0	54	1	9.992425e-01	13	34	0	54	2		0	0	0	0	0	2	1	1	52	208	0	53	2								-20.000000	1	1	121410	1	22	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF15	56992	broad.mit.edu	37	3	44867540	44867540	+	Silent	SNP	C	C	T	rs146760782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867540C>T	ENST00000326047.4	+	21	2708	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	KIF15_ENST00000425755.1_Silent_p.N488N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15			36					GGTTAGAAAACGAAAAGCTGC	0.308000																								0							SO:0001819	synonymous_variant			ENST00000326047.4	1	1	hg19	CCDS33744.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2	1	0	1	37	285	0	60	0	7.127896e-02	0	4	0	60	2		0	0	0	0	0	2	1	1	36	283	0	59	2								-15.200900	1	1	121396	4	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.980000	1.000000	1.000000	0.998208	0.990000	1	9.900000e-01	1
KIF15	56992	broad.mit.edu	37	3	44867676	44867676	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867676C>A	ENST00000326047.4	+	21	2844	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15			36					GAAATCTGATCTGAATGTATG	0.368000																								0							SO:0001583	missense			ENST00000326047.4	1	1	hg19	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983609	0.53827	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.59906	0.23;0.23;0.23	5.72	4.85	0.62838	.	0.000000	0.40908	D	0.000998	T	0.70859	0.3272	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.73493	-0.3965	10	0.59425	D	0.04	.	13.7611	0.62966	0.0:0.9248:0.0:0.0752	.	899	Q9NS87	KIF15_HUMAN	M	899;671;898;534	ENSP00000324020:L899M;ENSP00000425499:L671M;ENSP00000389982:L534M	ENSP00000324020:L899M	L	+	1	2	KIF15	44842680	0.712000	0.27916	0.985000	0.45067	0.522000	0.34438	1.053000	0.30442	1.431000	0.47355	0.591000	0.81541	CTG		TCGA-IB-7651-01A-11D-2154-08	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2	0	0	0	21	626	0	156	0	3.509995e-03	0	3	0	156	2		0	0	0	0	0	2	1	9.999969e-01	21	613	0	154	2								-3.090231	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.390000	0.240000	1.000000	0.390000	0.431803	0.390000	0	3.100000e-01	5.000000e-01
KIF15	56992	broad.mit.edu	37	3	44872399	44872399	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44872399C>A	ENST00000326047.4	+	26	3209	c.3060C>A	c.(3058-3060)aaC>aaA	p.N1020K	KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15			36					GCAAATACAACTCTGCTTTGG	0.383000																								0							SO:0001583	missense			ENST00000326047.4	1	1	hg19	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714539	0.48622	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.41065	1.01;1.01	6.06	2.31	0.28768	.	0.222711	0.30791	N	0.008861	T	0.34366	0.0895	M	0.62723	1.935	0.29249	N	0.872134	P	0.42078	0.77	B	0.38803	0.282	T	0.20974	-1.0259	10	0.26408	T	0.33	.	7.2452	0.26117	0.0:0.4867:0.0:0.5133	.	1020	Q9NS87	KIF15_HUMAN	K	1020;1019;655	ENSP00000324020:N1020K;ENSP00000389982:N655K	ENSP00000324020:N1020K	N	+	3	2	KIF15	44847403	0.018000	0.18449	0.989000	0.46669	0.997000	0.91878	0.340000	0.19892	0.442000	0.26555	0.655000	0.94253	AAC		TCGA-IB-7651-01A-11D-2154-08	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2	1	0	1	96	383	0	72	1	4.272598e-01	2	5	0	72	2		0	0	0	0	0	2	1	1	93	373	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGM4	7047	broad.mit.edu	37	3	44929289	44929289	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44929289T>C	ENST00000296125.4	+	3	368		c.e3+2			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4			38				L-Glutamine(DB00130)	GGCAAAGAGGTGAGCACCCAC	0.597000																								0							SO:0001630	splice_region_variant			ENST00000296125.4	1	1	hg19	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	T	6.390	0.440020	0.12104	.	.	ENSG00000163810	ENST00000296125	.	.	.	1.43	0.123	0.14709	.	.	.	.	.	.	.	.	.	.	.	0.23210	N	0.99811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2294	0.10596	0.0:0.0:0.3643:0.6357	.	.	.	.	.	-1	.	.	.	+	.	.	TGM4	44904293	0.905000	0.30787	0.120000	0.21714	0.050000	0.14768	0.458000	0.21892	0.024000	0.15214	0.383000	0.25322	.		TCGA-IB-7651-01A-11D-2154-08	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	1	0	1	38	154	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	37	153	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGM4	7047	broad.mit.edu	37	3	44943361	44943361	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44943361G>A	ENST00000296125.4	+	8	977	c.909G>A	c.(907-909)acG>acA	p.T303T	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	p.T303T(1)		38				L-Glutamine(DB00130)	GGAACCTCACGGTGGACACCT	0.542000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000296125.4	1	1	hg19	CCDS2723.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	1	0	1	46	207	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	43	199	0	52	2								-2.901267	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDCP1	64866	broad.mit.edu	37	3	45160072	45160072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45160072C>T	ENST00000296129.1	-	2	258	c.124G>A	c.(124-126)Gtt>Att	p.V42I	CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1			29					TTTATGAGAACTGTAATGTTG	0.438000																								0							SO:0001583	missense			ENST00000296129.1	1	1	hg19	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635392	0.29068	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.53857	1.83;0.6	5.33	-1.17	0.09648	.	0.485400	0.22915	N	0.054087	T	0.32852	0.0843	L	0.41824	1.3	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.14578	0.007;0.011	T	0.30268	-0.9984	10	0.07813	T	0.8	-4.6003	7.1109	0.25390	0.0:0.3763:0.1189:0.5048	.	42;42	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	I	42	ENSP00000296129:V42I;ENSP00000399342:V42I	ENSP00000296129:V42I	V	-	1	0	CDCP1	45135076	0.000000	0.05858	0.000000	0.03702	0.607000	0.37147	-0.837000	0.04377	-0.434000	0.07275	0.561000	0.74099	GTT		TCGA-IB-7651-01A-11D-2154-08	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	1	0	1	63	323	0	92	1	9.999977e-01	37	62	0	92	2		0	0	0	0	0	2	1	1	63	315	0	90	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARS2	23395	broad.mit.edu	37	3	45459025	45459025	+	Missense_Mutation	SNP	G	G	A	rs150836537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45459025G>A	ENST00000415258.1	+	4	556	c.415G>A	c.(415-417)Gca>Aca	p.A139T	LARS2_ENST00000414984.1_Missense_Mutation_p.A96T|LARS2_ENST00000265537.3_Missense_Mutation_p.A139T			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial			18				L-Leucine(DB00149)	TGAAAATGCCGCAGTCGAGAG	0.398000																								0							SO:0001583	missense			ENST00000415258.1	1	1	hg19	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627418	0.66901	0.0	1.16E-4	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984;ENST00000431023	D;D;D;T	0.81908	-1.55;-1.55;-1.55;1.61	5.74	5.74	0.90152	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.053586	0.64402	D	0.000001	D	0.94013	0.8082	H	0.97918	4.105	0.58432	D	0.999991	D;D	0.64830	0.994;0.994	P;P	0.60789	0.879;0.879	D	0.95830	0.8857	10	0.87932	D	0	-25.8708	16.8525	0.85998	0.0:0.0:1.0:0.0	.	96;139	E9PHM2;Q15031	.;SYLM_HUMAN	T	139;139;96;96	ENSP00000265537:A139T;ENSP00000408576:A139T;ENSP00000412893:A96T;ENSP00000406611:A96T	ENSP00000265537:A139T	A	+	1	0	LARS2	45434029	1.000000	0.71417	0.150000	0.22450	0.247000	0.25773	6.910000	0.75741	2.715000	0.92844	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	1	0	1	102	292	0	65	1	9.992988e-01	9	25	0	65	2		0	0	0	0	0	2	1	1	100	286	0	65	2								-5.464220	1	1	121412	1	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARS2	23395	broad.mit.edu	37	3	45530205	45530205	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45530205C>T	ENST00000415258.1	+	11	1281	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	LARS2_ENST00000414984.1_Silent_p.S337S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Silent_p.S380S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial			18				L-Leucine(DB00149)	CCAGTACTAGCTCAGAGGACA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000415258.1	1	1	hg19	CCDS2728.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	0	0	0	12	272	0	89	1	5.454212e-01	3	38	0	89	2		0	0	0	0	0	2	1	9.990548e-01	11	267	0	89	2								-4.264136	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.520000	0.280000	1.000000	0.500000	0.555109	0.520000	0	3.800000e-01	7.100000e-01
LIMD1	8994	broad.mit.edu	37	3	45636972	45636972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45636972G>A	ENST00000273317.4	+	1	622	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	LIMD1_ENST00000440097.1_Missense_Mutation_p.G201S|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1			10					CCCCAGCATCGGCCTGAGTGT	0.597000																								0							SO:0001583	missense			ENST00000273317.4	1	1	hg19	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	0.593	-0.832142	0.02713	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.56275	0.47;0.67	4.7	0.984	0.19773	.	1.041780	0.07538	N	0.913381	T	0.23611	0.0571	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.20974	-1.0259	10	0.02654	T	1	.	7.038	0.25004	0.7254:0.0:0.2746:0.0	.	201	Q9UGP4	LIMD1_HUMAN	S	201	ENSP00000394537:G201S;ENSP00000273317:G201S	ENSP00000273317:G201S	G	+	1	0	LIMD1	45611976	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.767000	0.26575	-0.067000	0.12976	-0.379000	0.06801	GGC		TCGA-IB-7651-01A-11D-2154-08	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	1	0	1	63	314	0	64	1	9.884698e-01	9	28	0	64	2		0	0	0	0	0	2	1	1	63	311	0	63	2								-3.168421	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIMD1	8994	broad.mit.edu	37	3	45637385	45637385	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45637385G>T	ENST00000273317.4	+	1	1035	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	LIMD1_ENST00000440097.1_Missense_Mutation_p.Q338H|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1			10					CCTGGTTCCAGGATGGGCCCA	0.617000																								0							SO:0001583	missense			ENST00000273317.4	1	1	hg19	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.933986	0.18206	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58940	0.3;0.5	4.73	-1.52	0.08637	.	1.897850	0.02198	N	0.062043	T	0.39200	0.1069	N	0.19112	0.55	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	10	0.38643	T	0.18	.	2.7735	0.05341	0.2436:0.114:0.5113:0.1311	.	338	Q9UGP4	LIMD1_HUMAN	H	338	ENSP00000394537:Q338H;ENSP00000273317:Q338H	ENSP00000273317:Q338H	Q	+	3	2	LIMD1	45612389	0.008000	0.16893	0.753000	0.31225	0.579000	0.36224	-0.313000	0.08103	-0.172000	0.10779	-0.150000	0.13652	CAG		TCGA-IB-7651-01A-11D-2154-08	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	1	0	1	80	398	0	86	1	9.888205e-01	4	33	0	86	2		0	0	0	0	0	2	1	1	80	394	0	86	2								-3.159560	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A20	54716	broad.mit.edu	37	3	45800611	45800611	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45800611G>A	ENST00000358525.4	-	11	1753	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000353278.4_Silent_p.L509L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20			13					CTTTGGTCACGAGCTGGCCCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000358525.4	1	1	hg19	CCDS43077.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	1	0	1	50	197	0	52	1	9.999972e-01	23	56	0	52	2		0	0	0	0	0	2	1	1	48	193	0	52	2								-20.000000	1	1	121412	5	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A20	54716	broad.mit.edu	37	3	45807055	45807055	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45807055C>A	ENST00000358525.4	-	8	1392	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I|SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20			13					GGGCAGGTGGCTGGAGATGAT	0.632000																								0							SO:0001583	missense			ENST00000358525.4	1	1	hg19	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365948	0.41902	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.73897	-0.79;-0.79;-0.79	5.71	3.83	0.44106	.	0.394675	0.27604	N	0.018634	T	0.51024	0.1650	N	0.04297	-0.235	0.28033	N	0.934041	P;P	0.36144	0.483;0.539	B;B	0.40410	0.144;0.328	T	0.45131	-0.9282	10	0.23302	T	0.38	.	6.5329	0.22336	0.0:0.5856:0.2461:0.1682	.	389;426	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	I	389;426;426	ENSP00000296133:S389I;ENSP00000346298:S426I;ENSP00000404310:S426I	ENSP00000296133:S389I	S	-	2	0	SLC6A20	45782059	0.139000	0.22563	0.709000	0.30452	0.970000	0.65996	1.277000	0.33167	1.412000	0.46977	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	1	0	1	28	110	0	32	1	9.999997e-01	42	63	0	32	2		0	0	0	0	0	2	1	1	28	108	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SLC6A20	54716	broad.mit.edu	37	3	45812884	45812884	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45812884G>T	ENST00000358525.4	-	6	875	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M|SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20			13					CCGAAGCCCAGGCCAAGTGAG	0.582000																								0							SO:0001583	missense			ENST00000358525.4	1	1	hg19	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610749	0.66558	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.05	3.22	0.36961	.	0.000000	0.64402	D	0.000003	D	0.88366	0.6417	M	0.88570	2.965	0.38052	D	0.935792	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89369	0.3673	10	0.72032	D	0.01	.	10.8715	0.46885	0.158:0.0:0.842:0.0	.	217;254	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	M	217;254;254;207	ENSP00000296133:L217M;ENSP00000346298:L254M;ENSP00000404310:L254M;ENSP00000395506:L207M	ENSP00000296133:L217M	L	-	1	2	SLC6A20	45787888	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.690000	0.54713	0.499000	0.27970	0.467000	0.42956	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	1	0	1	55	245	0	49	1	9.999765e-01	23	50	0	49	2		0	0	0	0	0	2	1	1	54	233	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCR9	10803	broad.mit.edu	37	3	45942482	45942482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45942482C>A	ENST00000357632.2	+	3	382	c.202C>A	c.(202-204)Ctt>Att	p.L68I	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Silent_p.V96V|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9			20					GGGCAACAGTCTTGTTATCCT	0.473000																								0							SO:0001583	missense			ENST00000357632.2	1	1	hg19	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038359	0.35989	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.77877	-1.13;-1.13;-1.13	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.086825	0.48767	D	0.000176	D	0.86188	0.5873	M	0.82323	2.585	0.48696	D	0.999692	D	0.76494	0.999	D	0.75020	0.985	D	0.87005	0.2119	10	0.72032	D	0.01	.	6.6875	0.23154	0.0:0.7802:0.0:0.2198	.	68	P51686	CCR9_HUMAN	I	68;56;56	ENSP00000350256:L68I;ENSP00000379292:L56I;ENSP00000348260:L56I	ENSP00000348260:L56I	L	+	1	0	CCR9	45917486	0.925000	0.31364	0.943000	0.38184	0.007000	0.05969	1.241000	0.32743	2.392000	0.81423	0.563000	0.77884	CTT		TCGA-IB-7651-01A-11D-2154-08	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2	1	0	1	215	821	0	136	0	0	0	1	0	136	2		0	0	0	0	0	2	1	1	207	797	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FYCO1	79443	broad.mit.edu	37	3	46000959	46000959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46000959G>A	ENST00000296137.2	-	12	3718	c.3513C>T	c.(3511-3513)ctC>ctT	p.L1171L	FYCO1_ENST00000535325.1_Silent_p.L1171L|FYCO1_ENST00000438446.1_5'Flank	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1			54					CTGTGTCTCCGAGCCATCTCT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000296137.2	0	1	hg19	CCDS2734.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	0	0	0	11	417	0	80	1	6.994160e-01	4	88	0	80	2		0	0	0	0	0	2	1	9.981265e-01	10	408	0	77	2								-3.318917	1	1	121412	1	27	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.320000	0.160000	1.000000	0.300000	0.364180	0.320000	0	2.300000e-01	4.400000e-01
FYCO1	79443	broad.mit.edu	37	3	46008354	46008354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008354T>G	ENST00000296137.2	-	8	2677	c.2472A>C	c.(2470-2472)aaA>aaC	p.K824N	FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1			54					GCACAAGGGTTTTGTGCTCCC	0.607000																								0							SO:0001583	missense			ENST00000296137.2	1	1	hg19	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.332887	0.24167	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23552	1.9;1.91	5.66	1.39	0.22231	.	0.532153	0.21892	N	0.067569	T	0.21761	0.0524	L	0.54323	1.7	0.09310	N	1	P;P	0.51653	0.947;0.736	B;B	0.40444	0.329;0.205	T	0.14476	-1.0471	10	0.31617	T	0.26	-25.2254	10.9744	0.47456	0.0:0.6381:0.0:0.3619	.	824;824	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	824	ENSP00000296137:K824N;ENSP00000441178:K824N	ENSP00000296137:K824N	K	-	3	2	FYCO1	45983358	0.015000	0.18098	0.196000	0.23383	0.560000	0.35617	0.498000	0.22530	0.360000	0.24265	-0.132000	0.14878	AAA		TCGA-IB-7651-01A-11D-2154-08	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	1	0	0	31	309	0	67	1	9.911671e-01	7	69	0	67	2		0	0	0	0	0	2	1	1	31	304	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.750000	1.000000	1.000000	0.967566	0.990000	1	9.100000e-01	1
FYCO1	79443	broad.mit.edu	37	3	46008506	46008506	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008506A>G	ENST00000296137.2	-	8	2525	c.2320T>C	c.(2320-2322)Tct>Cct	p.S774P	FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1			54					TGCGCCTGAGACAGGGCTAGC	0.632000																								0							SO:0001583	missense			ENST00000296137.2	1	1	hg19	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209595	0.22289	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21543	2.0;2.0	5.55	-0.343	0.12632	.	0.902870	0.09603	N	0.779956	T	0.17450	0.0419	L	0.43152	1.355	0.09310	N	1	P;B	0.36086	0.536;0.403	B;B	0.37198	0.243;0.086	T	0.26395	-1.0104	10	0.35671	T	0.21	-0.2682	8.0651	0.30657	0.382:0.4815:0.0:0.1365	.	774;774	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	P	774	ENSP00000296137:S774P;ENSP00000441178:S774P	ENSP00000296137:S774P	S	-	1	0	FYCO1	45983510	0.000000	0.05858	0.480000	0.27341	0.566000	0.35808	0.052000	0.14163	0.355000	0.24131	0.533000	0.62120	TCT		TCGA-IB-7651-01A-11D-2154-08	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	1	0	1	82	351	0	104	1	9.950373e-01	10	27	0	104	2		0	0	0	0	0	2	1	1	82	348	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FYCO1	79443	broad.mit.edu	37	3	46009762	46009762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46009762C>T	ENST00000296137.2	-	8	1269	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1			54					CAGTGAGTCCCGTGTGGCCTC	0.602000																								0							SO:0001583	missense			ENST00000296137.2	1	1	hg19	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	6.474	0.455606	0.12283	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.22539	1.97;1.95	5.66	1.48	0.22813	.	0.449418	0.23916	N	0.043297	T	0.18551	0.0445	M	0.63843	1.955	0.09310	N	1	D;D	0.57257	0.979;0.979	B;B	0.42112	0.376;0.333	T	0.23619	-1.0183	10	0.19147	T	0.46	-19.4947	8.2526	0.31735	0.0:0.6544:0.0:0.3456	.	355;355	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	Q	355	ENSP00000296137:R355Q;ENSP00000441178:R355Q	ENSP00000296137:R355Q	R	-	2	0	FYCO1	45984766	0.000000	0.05858	0.017000	0.16124	0.071000	0.16799	-1.523000	0.02235	-0.020000	0.14032	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	1	0	1	148	591	0	133	1	9.999963e-01	8	64	0	133	2		0	0	0	0	0	2	1	1	144	581	0	130	2								-2.551211	1	1	121412	3	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XCR1	2829	broad.mit.edu	37	3	46062946	46062946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46062946G>A	ENST00000309285.3	-	2	850	c.494C>T	c.(493-495)aCc>aTc	p.T165I	XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1			14					GTGGAAGATGGTGTCGAGGAT	0.607000																								0							SO:0001583	missense			ENST00000309285.3	1	1	hg19	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.399	-0.919378	0.02396	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.36520	1.25;1.25	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.773393	0.12567	N	0.457631	T	0.12860	0.0312	N	0.02266	-0.62	0.19575	N	0.999965	B	0.14012	0.009	B	0.13407	0.009	T	0.31724	-0.9933	10	0.02654	T	1	.	7.2787	0.26300	0.2029:0.0:0.7971:0.0	.	165	P46094	XCR1_HUMAN	I	165	ENSP00000310405:T165I;ENSP00000438119:T165I	ENSP00000310405:T165I	T	-	2	0	XCR1	46037950	0.004000	0.15560	0.246000	0.24233	0.005000	0.04900	1.657000	0.37366	2.626000	0.88956	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2	1	0	1	30	153	0	29	0	7.631161e-02	0	3	0	29	2		0	0	0	0	0	2	1	1	30	148	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
XCR1	2829	broad.mit.edu	37	3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1			14					GTTCTCACACGGCTGGCTCTG	0.552000																								0							SO:0001583	missense			ENST00000309285.3	1	1	hg19	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.271567	0.00257	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67523	-0.27;-0.27	5.03	2.58	0.30949	.	1.364650	0.05708	N	0.595466	T	0.43456	0.1248	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.26916	-1.0089	10	0.24483	T	0.36	.	3.3904	0.07287	0.6493:0.0:0.1824:0.1682	.	21	P46094	XCR1_HUMAN	L	21	ENSP00000310405:P21L;ENSP00000438119:P21L	ENSP00000310405:P21L	P	-	2	0	XCR1	46038382	0.021000	0.18746	0.196000	0.23383	0.002000	0.02628	1.001000	0.29783	0.257000	0.21650	-1.144000	0.01866	CCG		TCGA-IB-7651-01A-11D-2154-08	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2	1	0	1	57	281	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	1	56	274	0	71	2								-2.752395	1	1	121412	3	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCR1	1230	broad.mit.edu	37	3	46244850	46244850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46244850G>A	ENST00000296140.3	-	2	1080	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1			17					ACAGCCACACGCCTGTGGAAC	0.592000																								0							SO:0001583	missense			ENST00000296140.3	1	1	hg19	CCDS2737.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.83	2.055942	0.36277	2.27E-4	0.0	ENSG00000163823	ENST00000296140	T	0.37584	1.19	5.31	0.176	0.15049	.	0.974131	0.08385	N	0.953839	T	0.21801	0.0525	N	0.04994	-0.135	0.09310	N	1	D	0.54207	0.965	P	0.48677	0.586	T	0.09862	-1.0655	10	0.51188	T	0.08	.	3.7884	0.08710	0.1929:0.1125:0.5783:0.1163	.	319	P32246	CCR1_HUMAN	C	319	ENSP00000296140:R319C	ENSP00000296140:R319C	R	-	1	0	CCR1	46219854	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-0.181000	0.09740	-0.185000	0.10550	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	1	0	1	53	205	0	53	0	9.999966e-01	0	76	0	53	2		0	0	0	0	0	2	1	1	52	201	0	52	2								-20.000000	1	1	121412	6	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCR1	1230	broad.mit.edu	37	3	46245532	46245532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46245532G>A	ENST00000296140.3	-	2	398	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1			17					ACTTGTAGTCGATCCAGAAGG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000296140.3	1	1	hg19	CCDS2737.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	1	0	1	86	327	0	96	0	9.999796e-01	0	62	0	96	2		0	0	0	0	0	2	1	1	85	320	0	96	2								-3.811984	1	1	121412	2	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCR2	729230	broad.mit.edu	37	3	46399102	46399102	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46399102C>T	ENST00000400888.2	+	1	123	c.84C>T	c.(82-84)taC>taT	p.Y28Y	CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000292301.4_Silent_p.Y28Y			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2			14					ATTATGATTACGGTGCTCCCT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000400888.2	1	1	hg19	CCDS43078.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	1	0	1	109	527	1	136	0	6.804423e-01	0	13	1	136	2		0	0	0	0	0	2	1	1	107	519	1	134	17								-20.000000	1	1	121400	1	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCRL2	9034	broad.mit.edu	37	3	46449860	46449860	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46449860C>A	ENST00000399036.3	+	2	642	c.290C>A	c.(289-291)gCt>gAt	p.A97D	CCRL2_ENST00000357392.4_Missense_Mutation_p.A109D|CCRL2_ENST00000400880.3_Missense_Mutation_p.A97D|CCRL2_ENST00000400882.2_Missense_Mutation_p.A97D|RP11-24F11.2_ENST00000451485.1_RNA	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2			5					TGGGCTCATGCTGGGGGCGAT	0.433000																								0							SO:0001583	missense			ENST00000399036.3	1	1	hg19	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090831	0.36855	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.25	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	3.140400	0.01209	N	0.007788	T	0.29321	0.0730	N	0.17474	0.49	0.09310	N	1	B;B	0.20671	0.038;0.047	B;B	0.19391	0.015;0.025	T	0.30851	-0.9964	10	0.72032	D	0.01	.	8.8988	0.35481	0.1536:0.5197:0.3267:0.0	.	109;97	O00421-2;O00421	.;CCRL2_HUMAN	D	97;109;97;97;97	ENSP00000381994:A97D;ENSP00000349967:A109D;ENSP00000383677:A97D;ENSP00000414957:A97D;ENSP00000383678:A97D	ENSP00000349967:A109D	A	+	2	0	CCRL2	46424864	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	1.614000	0.36911	0.556000	0.29098	0.491000	0.48974	GCT		TCGA-IB-7651-01A-11D-2154-08	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2	1	0	1	64	333	0	69	1	9.837450e-01	9	27	0	69	2		0	0	0	0	0	2	1	1	63	328	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCRL2	9034	broad.mit.edu	37	3	46450274	46450274	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46450274G>A	ENST00000399036.3	+	2	1056	c.704G>A	c.(703-705)aGc>aAc	p.S235N	CCRL2_ENST00000357392.4_Missense_Mutation_p.S247N|CCRL2_ENST00000400880.3_Missense_Mutation_p.S235N|CCRL2_ENST00000400882.2_Missense_Mutation_p.S235N|RP11-24F11.2_ENST00000451485.1_RNA	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2			5					CAGAGGTATAGCCTTTTCAAG	0.388000																								0							SO:0001583	missense			ENST00000399036.3	1	1	hg19	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382199	0.24944	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.49	-4.73	0.03259	GPCR, rhodopsin-like superfamily (1);	2.259790	0.02401	N	0.080709	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.19946	0.016;0.027	T	0.39522	-0.9610	10	0.72032	D	0.01	.	14.0252	0.64582	0.3336:0.0:0.6664:0.0	.	247;235	O00421-2;O00421	.;CCRL2_HUMAN	N	235;247;235;235	ENSP00000381994:S235N;ENSP00000349967:S247N;ENSP00000383677:S235N;ENSP00000383678:S235N	ENSP00000349967:S247N	S	+	2	0	CCRL2	46425278	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.703000	0.05063	-0.747000	0.04759	-0.350000	0.07774	AGC		TCGA-IB-7651-01A-11D-2154-08	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2	1	0	1	252	1144	0	304	1	9.968618e-01	3	38	0	304	2		0	0	0	0	0	2	1	1	246	1115	0	302	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LTF	4057	broad.mit.edu	37	3	46488808	46488808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46488808C>T	ENST00000231751.4	-	10	1589	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LTF_ENST00000417439.1_Missense_Mutation_p.E430K|LTF_ENST00000426532.2_Missense_Mutation_p.E388K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin			40					CTGTAGTTCTCTGCCAGGACA	0.483000																								0							SO:0001583	missense			ENST00000231751.4	1	1	hg19	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963350	0.92791	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.76	4.76	0.60689	.	0.138561	0.64402	D	0.000004	T	0.79604	0.4474	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.86696	0.1926	10	0.87932	D	0	-21.1836	15.6781	0.77344	0.0:1.0:0.0:0.0	.	430;419;432	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	432;388;430;419	ENSP00000231751:E432K;ENSP00000405719:E388K;ENSP00000405546:E430K;ENSP00000397427:E419K	ENSP00000231751:E432K	E	-	1	0	LTF	46463812	1.000000	0.71417	0.955000	0.39395	0.988000	0.76386	6.634000	0.74290	2.646000	0.89796	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	1	0	1	97	500	0	129	0	9.927546e-01	0	41	0	129	2		0	0	0	0	0	2	1	1	94	491	0	128	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC2	79442	broad.mit.edu	37	3	46580536	46580536	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46580536G>A	ENST00000395905.3	-	4	881	c.489C>T	c.(487-489)atC>atT	p.I163I	LRRC2_ENST00000296144.3_Splice_Site_p.I163I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2			17		Ovarian(412;0.0563)			TTGACATACCGATTTCTGCTG	0.453000																								0							SO:0001630	splice_region_variant			ENST00000395905.3	1	0	hg19	CCDS2741.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2	1	0	1	64	311	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	63	308	0	59	2								-20.000000	1	1	121412	5	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALS2CL	259173	broad.mit.edu	37	3	46717749	46717749	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46717749G>T	ENST00000318962.4	-	19	2255	c.2172C>A	c.(2170-2172)ctC>ctA	p.L724L	ALS2CL_ENST00000415953.1_Silent_p.L724L|ALS2CL_ENST00000383742.3_Silent_p.L71L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like			29					AGGCAGCCCAGAGTTCCTGGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000318962.4	1	1	hg19	CCDS2743.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	1	0	1	71	330	0	80	1	9.999887e-01	34	45	0	80	2		0	0	0	0	0	2	1	1	70	326	0	79	2								-3.283787	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPR1	3708	broad.mit.edu	37	3	4683897	4683897	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683897A>C	ENST00000443694.2	+	5	487	c.487A>C	c.(487-489)Att>Ctt	p.I163L	ITPR1_ENST00000302640.8_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1			106				Caffeine(DB00201)	CTGGTTTTATATTCAGCCATT	0.458000																								0							SO:0001583	missense			ENST00000443694.2	1	1	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.262091	0.59431	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.43;-5.43;-5.43;-5.43	5.28	5.28	0.74379	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.88842	2.985	0.40237	D	0.977915	B;B;P;B;B	0.41159	0.066;0.016;0.74;0.008;0.011	B;B;D;B;B	0.69824	0.263;0.419;0.966;0.325;0.192	D	0.98681	1.0692	10	0.62326	D	0.03	.	15.2445	0.73497	1.0:0.0:0.0:0.0	.	163;163;163;163;163	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	L	163	ENSP00000306253:I163L;ENSP00000346595:I163L;ENSP00000405934:I163L;ENSP00000349597:I163L;ENSP00000397885:I163L;ENSP00000440564:I163L;ENSP00000401671:I163L	ENSP00000306253:I163L	I	+	1	0	ITPR1	4658897	1.000000	0.71417	0.818000	0.32626	0.387000	0.30353	7.423000	0.80229	1.997000	0.58415	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	0	15	172	0	29	0	5.989366e-01	1	23	0	29	2		0	0	0	0	0	2	1	9.998842e-01	15	170	0	28	2								-19.923800	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.970000	0.570000	1.000000	1.000000	0.900856	0.970000	1	7.400000e-01	1
ITPR1	3708	broad.mit.edu	37	3	4683914	4683914	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683914G>T	ENST00000443694.2	+	5	504	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ITPR1_ENST00000302640.8_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1			106				Caffeine(DB00201)	CATTCTACAAGCTGCGATCCA	0.468000																								0							SO:0001583	missense			ENST00000443694.2	1	1	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299581	0.60195	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.28	3.48	0.39840	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.93854	3.465	0.37152	D	0.902198	D;P;D;P;P	0.89917	0.977;0.91;1.0;0.885;0.86	D;P;D;P;P	0.97110	0.993;0.795;1.0;0.638;0.505	D	0.99905	1.1178	10	0.87932	D	0	.	9.6978	0.40167	0.2638:0.0:0.7362:0.0	.	168;168;168;168;168	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	N	168	ENSP00000306253:K168N;ENSP00000346595:K168N;ENSP00000405934:K168N;ENSP00000349597:K168N;ENSP00000397885:K168N;ENSP00000440564:K168N;ENSP00000401671:K168N	ENSP00000306253:K168N	K	+	3	2	ITPR1	4658914	0.993000	0.37304	1.000000	0.80357	0.590000	0.36582	0.318000	0.19504	1.223000	0.43536	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	0	17	160	0	27	1	6.703898e-01	2	21	0	27	2		0	0	0	0	0	2	1	9.999674e-01	16	157	0	26	2								-19.999940	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.963718	0.990000	1	9.000000e-01	1
MYL3	4634	broad.mit.edu	37	3	46904811	46904811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46904811C>T	ENST00000395869.1	-	1	121	c.70G>A	c.(70-72)Gca>Aca	p.A24T	MYL3_ENST00000292327.4_Missense_Mutation_p.A24T			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow			3					GGGGGAGGTGCGGGAGCTGGA	0.592000													Melanoma(166;130 1949 2249 18977 46142)											0							SO:0001583	missense			ENST00000395869.1	1	1	hg19	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773711	0.16051	.	.	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84298	-1.83;-1.83	2.95	2.07	0.26955	.	0.492773	0.19873	N	0.104154	T	0.80773	0.4687	M	0.78801	2.425	0.09310	N	1	B	0.19583	0.037	B	0.04013	0.001	T	0.65438	-0.6168	10	0.23891	T	0.37	-12.4256	5.9945	0.19487	0.0:0.8539:0.0:0.1461	.	24	P08590	MYL3_HUMAN	T	24	ENSP00000379210:A24T;ENSP00000292327:A24T	ENSP00000292327:A24T	A	-	1	0	MYL3	46879815	0.899000	0.30636	0.059000	0.19551	0.180000	0.23129	1.459000	0.35234	0.836000	0.34901	-0.258000	0.10820	GCA		TCGA-IB-7651-01A-11D-2154-08	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	0	0	0	21	591	0	113	0	1.238728e-02	0	5	0	113	2		0	0	0	0	0	2	1	9.999968e-01	21	576	0	113	2								-3.453791	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.410000	0.260000	1.000000	0.410000	0.453073	0.410000	0	3.300000e-01	5.300000e-01
CCDC12	151903	broad.mit.edu	37	3	46966960	46966960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46966960G>A	ENST00000546280.1	-	3	277	c.230C>T	c.(229-231)gCc>gTc	p.A77V	CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000425441.1_Missense_Mutation_p.A90V|CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12			3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)			AACCGGTTTGGCCTGGGGCAC	0.562000																								0							SO:0001583	missense			ENST00000546280.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.0	4.077400	0.76528	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	L	0.31752	0.955	0.80722	D	1	D;P	0.89917	1.0;0.875	D;P	0.87578	0.998;0.46	T	0.62158	-0.6913	9	0.32370	T	0.25	-2.9651	17.1908	0.86879	0.0:0.0:1.0:0.0	.	77;77	B4DZZ9;Q8WUD4	.;CCD12_HUMAN	V	90;90;77;90	.	ENSP00000292314:A90V	A	-	2	0	CCDC12	46941964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.404000	0.73268	2.724000	0.93272	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	18	97	0	32	1	1	175	342	0	32	2		0	0	0	0	0	2	1	9.999886e-01	18	96	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999404	0.990000	1	9.900000e-01	1
NBEAL2	23218	broad.mit.edu	37	3	47030423	47030423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47030423G>A	ENST00000450053.3	+	3	411	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2			51		Acute lymphoblastic leukemia(5;0.0534)			CCTGGAGCAAGCCCTCCTGCT	0.602000																								0							SO:0001583	missense			ENST00000450053.3	1	1	hg19	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918185	0.33815	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.60040	0.22;0.24	4.07	2.25	0.28309	.	.	.	.	.	T	0.50257	0.1605	M	0.63843	1.955	0.80722	D	1	B;B	0.16603	0.018;0.002	B;B	0.18561	0.022;0.002	T	0.45673	-0.9245	9	0.54805	T	0.06	.	6.2584	0.20887	0.3197:0.0:0.6803:0.0	.	71;78	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	T	78;78;71	ENSP00000292309:A78T;ENSP00000415034:A78T	ENSP00000292309:A78T	A	+	1	0	NBEAL2	47005427	0.380000	0.25131	0.704000	0.30370	0.708000	0.40852	1.522000	0.35921	0.370000	0.24538	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1	32	188	0	29	1	9.986797e-01	14	49	0	29	2		0	0	0	0	0	2	1	1	31	183	0	29	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999920	0.990000	1	9.900000e-01	1
NBEAL2	23218	broad.mit.edu	37	3	47040450	47040450	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47040450C>T	ENST00000450053.3	+	24	3565	c.3386C>T	c.(3385-3387)gCg>gTg	p.A1129V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2			51		Acute lymphoblastic leukemia(5;0.0534)			CATCCCCAGGCGGTGGGTGCG	0.657000											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000450053.3	1	0	hg19	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	T	0.046	-1.267371	0.01433	.	.	ENSG00000160796	ENST00000450053	T	0.20332	2.08	5.29	2.92	0.33932	.	.	.	.	.	T	0.04272	0.0118	N	0.00436	-1.5	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30563	-0.9974	9	0.05959	T	0.93	.	7.3518	0.26695	0.0:0.2562:0.0:0.7438	.	1129	Q6ZNJ1	NBEL2_HUMAN	V	1129	ENSP00000415034:A1129V	ENSP00000415034:A1129V	A	+	2	0	NBEAL2	47015454	0.954000	0.32549	0.874000	0.34290	0.113000	0.19764	1.301000	0.33447	0.425000	0.26087	-0.361000	0.07541	GCG		TCGA-IB-7651-01A-11D-2154-08	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1	14	48	0	19	1	9.999795e-01	11	67	0	19	2		0	0	0	0	0	2	1	9.998374e-01	14	46	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999856	0.990000	1	9.900000e-01	1
NBEAL2	23218	broad.mit.edu	37	3	47041693	47041693	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47041693C>T	ENST00000450053.3	+	27	4283	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.G1184G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2			51		Acute lymphoblastic leukemia(5;0.0534)			TAGGATCAGGCAACACTGCTG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000450053.3	1	1	hg19	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	2.402	-0.337409	0.05278	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.48	1.16	0.20824	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.22401	N	0.999135	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	.	3.3069	0.07003	0.1209:0.4588:0.262:0.1583	.	.	.	.	V	656	.	.	A	+	2	0	NBEAL2	47016697	0.000000	0.05858	0.058000	0.19502	0.490000	0.33462	-0.017000	0.12590	0.251000	0.21505	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1	102	484	0	100	1	9.999995e-01	42	57	0	100	2		0	0	0	0	0	2	1	1	102	476	0	100	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBEAL2	23218	broad.mit.edu	37	3	47042768	47042768	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47042768G>T	ENST00000450053.3	+	29	4663		c.e29-1		NBEAL2_ENST00000383740.2_Splice_Site|NBEAL2_ENST00000292309.5_Splice_Site	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2			51		Acute lymphoblastic leukemia(5;0.0534)			TCACCCGCCAGCCTCCTGGAG	0.627000																								0							SO:0001630	splice_region_variant			ENST00000450053.3	1	1	hg19	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160308	0.78226	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000416683	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBEAL2	47017772	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.542000	0.98086	2.667000	0.90743	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1	94	403	0	96	1	7.728331e-01	14	0	0	96	2		0	0	0	0	0	2	1	1	94	397	0	96	2								-20.000000	1	1	121102	1	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBEAL2	23218	broad.mit.edu	37	3	47047546	47047546	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47047546C>A	ENST00000450053.3	+	43	7091	c.6912C>A	c.(6910-6912)acC>acA	p.T2304T	NBEAL2_ENST00000383740.2_Silent_p.T583T|NBEAL2_ENST00000292309.5_Silent_p.T2120T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2			51		Acute lymphoblastic leukemia(5;0.0534)			ATTACTGCACCTATGAGGGTG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000450053.3	1	1	hg19	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.020|8.020	0.759396|0.759396	0.15846|0.15846	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.78|4.78	1.31|1.31	0.21738|0.21738	.|.	.|.	.|.	.|.	.|.	T|T	0.45256|0.45256	0.1333|0.1333	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22277|0.22277	-1.0221|-1.0221	4|4	.|.	.|.	.|.	.|.	3.3935|3.3935	0.07298|0.07298	0.3228:0.4439:0.0:0.2333|0.3228:0.4439:0.0:0.2333	.|.	.|.	.|.	.|.	I|H	673|1592	.|.	.|.	L|P	+|+	1|2	2|0	NBEAL2|NBEAL2	47022550|47022550	0.003000|0.003000	0.15002|0.15002	0.997000|0.997000	0.53966|0.53966	0.971000|0.971000	0.66376|0.66376	-1.339000|-1.339000	0.02652|0.02652	0.049000|0.049000	0.15920|0.15920	0.561000|0.561000	0.74099|0.74099	CTA|CCT		TCGA-IB-7651-01A-11D-2154-08	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1	80	337	0	74	1	1	68	75	0	74	2		0	0	0	0	0	2	1	1	79	329	0	74	2								-2.881695	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBEAL2	23218	broad.mit.edu	37	3	47049628	47049628	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47049628C>T	ENST00000450053.3	+	50	7850	c.7671C>T	c.(7669-7671)agC>agT	p.S2557S	NBEAL2_ENST00000383740.2_Silent_p.S806S|NBEAL2_ENST00000292309.5_Silent_p.S2373S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2			51		Acute lymphoblastic leukemia(5;0.0534)			CTGCAGTGAGCTGTGTGGCCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000450053.3	1	1	hg19	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928973	0.18131	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.16	0.958	0.19619	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	.	3.9483	0.09358	0.0:0.4167:0.1761:0.4072	.	.	.	.	V	1845	.	.	A	+	2	0	NBEAL2	47024632	0.003000	0.15002	1.000000	0.80357	0.990000	0.78478	-1.291000	0.02775	0.656000	0.30886	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1	29	167	0	46	1	1	40	152	0	46	2		0	0	0	0	0	2	1	1	29	163	0	46	2								-3.334433	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999893	0.990000	1	9.900000e-01	1
SETD2	29072	broad.mit.edu	37	3	47164118	47164118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164118C>T	ENST00000409792.3	-	3	2050	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2			141		Acute lymphoblastic leukemia(5;0.0169)			ATATTTAATTCTATGGGACAA	0.323000			N, F, S, Mis		clear cell renal carcinoma										Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0							SO:0001583	missense			ENST00000409792.3	1	1	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403533	0.62288	0.0	1.16E-4	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.29	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000025	T	0.80706	0.4674	N	0.24115	0.695	0.37608	D	0.92084	P;P	0.43750	0.816;0.603	B;B	0.36766	0.232;0.232	D	0.85269	0.1055	10	0.87932	D	0	.	12.7337	0.57212	0.0:0.9255:0.0:0.0744	.	670;670	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	670;670;670;626	ENSP00000386759:E670K;ENSP00000416401:E626K	ENSP00000386759:E670K	E	-	1	0	SETD2	47139122	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	3.635000	0.54309	2.828000	0.97474	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	1	0	0	15	331	0	70	1	3.352448e-01	2	24	0	70	2		0	0	0	0	0	2	1	9.998658e-01	15	326	0	70	2								-4.529612	1	1	121408	9	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.530000	0.300000	1.000000	0.500000	0.562473	0.530000	0	4.000000e-01	7.000000e-01
SETD2	29072	broad.mit.edu	37	3	47164368	47164368	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164368A>C	ENST00000409792.3	-	3	1800	c.1758T>G	c.(1756-1758)caT>caG	p.H586Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2			141		Acute lymphoblastic leukemia(5;0.0169)			AACTAAAAGAATGAGACTGTT	0.323000			N, F, S, Mis		clear cell renal carcinoma										Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0							SO:0001583	missense			ENST00000409792.3	1	1	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925895	0.34002	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88201	-2.35;1.5	5.43	5.43	0.79202	.	0.105088	0.42548	D	0.000693	T	0.81422	0.4819	N	0.19112	0.55	0.36693	D	0.879687	P;P	0.42827	0.791;0.791	B;B	0.37650	0.255;0.255	D	0.86994	0.2112	10	0.87932	D	0	.	14.2096	0.65755	1.0:0.0:0.0:0.0	.	586;586	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	586;586;586;542	ENSP00000386759:H586Q;ENSP00000416401:H542Q	ENSP00000386759:H586Q	H	-	3	2	SETD2	47139372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.058000	0.49939	2.277000	0.76020	0.528000	0.53228	CAT		TCGA-IB-7651-01A-11D-2154-08	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	1	0	1	64	275	0	64	1	7.331658e-01	4	9	0	64	2		0	0	0	0	0	2	1	1	63	274	0	63	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF9	64147	broad.mit.edu	37	3	47284645	47284645	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47284645G>T	ENST00000265529.3	-	17	2285	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Silent_p.S535S|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000335044.2_Silent_p.S535S|KIF9_ENST00000444589.2_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9			34		Acute lymphoblastic leukemia(5;0.164)			CATCTTTGGAGGATGGGACCA	0.552000													Colon(44;962 1147 15977 24541)											0							SO:0001819	synonymous_variant			ENST00000265529.3	0	1	hg19	CCDS2752.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2	0	0	0	7	255	0	58	0	1.395982e-02	0	6	0	58	2		0	0	0	0	0	2	1	9.796408e-01	7	250	0	58	2								-3.473841	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.340000	0.140000	1.000000	0.310000	0.388307	0.340000	0	2.300000e-01	5.100000e-01
KIF9	64147	broad.mit.edu	37	3	47299019	47299019	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47299019T>G	ENST00000265529.3	-	11	1693	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000335044.2_Missense_Mutation_p.K338T|KIF9_ENST00000444589.2_Missense_Mutation_p.K338T			Q9HAQ2	KIF9_HUMAN	kinesin family member 9			34		Acute lymphoblastic leukemia(5;0.164)			GGTGACTAGCTTCATCCTGCT	0.507000													Colon(44;962 1147 15977 24541)											0							SO:0001583	missense			ENST00000265529.3	1	1	hg19	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248045	0.80024	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.47	5.47	0.80525	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.69248	2.105	0.52501	D	0.999959	P;D	0.55385	0.856;0.971	P;P	0.50270	0.631;0.636	T	0.82218	-0.0566	10	0.46703	T	0.11	.	14.5097	0.67776	0.0:0.0:0.0:1.0	.	338;338	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	T	338;338;338;338;245	ENSP00000333942:K338T;ENSP00000265529:K338T;ENSP00000414987:K338T;ENSP00000391100:K338T;ENSP00000292334:K245T	ENSP00000265529:K338T	K	-	2	0	KIF9	47274023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.476000	0.60216	2.296000	0.77279	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2	1	0	1	70	361	0	100	0	0	0	1	0	100	2		0	0	0	0	0	2	1	1	69	350	0	100	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL18	23276	broad.mit.edu	37	3	47371497	47371497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47371497C>T	ENST00000232766.5	+	4	478	c.458C>T	c.(457-459)gCt>gTt	p.A153V	KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18			21		Acute lymphoblastic leukemia(5;0.164)			ATGATGTGTGCTGTGCTGTAC	0.493000																								0							SO:0001583	missense			ENST00000232766.5	1	1	hg19	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333086	0.60853	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.69040	-0.37;-0.37	4.94	4.94	0.65067	BTB/Kelch-associated (2);	0.059222	0.64402	D	0.000002	T	0.46054	0.1373	N	0.16066	0.365	0.58432	D	0.999997	P;B;B	0.40534	0.72;0.012;0.137	B;B;B	0.35182	0.197;0.02;0.058	T	0.47598	-0.9105	10	0.09590	T	0.72	.	16.8983	0.86106	0.0:1.0:0.0:0.0	.	4;153;88	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	V	153;41	ENSP00000232766:A153V;ENSP00000405585:A41V	ENSP00000232766:A153V	A	+	2	0	KLHL18	47346501	1.000000	0.71417	0.912000	0.35992	0.993000	0.82548	7.416000	0.80143	2.579000	0.87056	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	1	0	0	33	509	0	106	1	7.582930e-01	3	41	0	106	2		0	0	0	0	0	2	1	1	32	502	0	102	2								-6.870001	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.730000	0.510000	1.000000	0.720000	0.747016	0.730000	0	6.100000e-01	8.800000e-01
PTPN23	25930	broad.mit.edu	37	3	47449834	47449834	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47449834G>T	ENST00000265562.4	+	15	1261		c.e15-1		PTPN23_ENST00000431726.1_Splice_Site	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23			23					GCTCCCCACAGCCAGTTCATG	0.582000																								0							SO:0001630	splice_region_variant			ENST00000265562.4	1	1	hg19	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477482	0.63849	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4941	0.75634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN23	47424838	1.000000	0.71417	0.990000	0.47175	0.727000	0.41649	9.305000	0.96197	2.195000	0.70347	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	1	0	1	57	311	0	97	0	2.492897e-02	1	1	0	97	2		0	0	0	0	0	2	1	1	55	307	1	95	14								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN23	25930	broad.mit.edu	37	3	47450720	47450720	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47450720C>T	ENST00000265562.4	+	17	1787	c.1710C>T	c.(1708-1710)cgC>cgT	p.R570R	PTPN23_ENST00000431726.1_Silent_p.R444R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23			23					GGGACCAGCGCGTGTCCCTGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000265562.4	1	1	hg19	CCDS2754.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	0	0	0	12	349	0	64	0	6.162824e-01	1	59	0	64	2		0	0	0	0	0	2	1	9.991080e-01	11	347	0	63	2								-12.112520	1	1	121410	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.410000	0.220000	1.000000	0.390000	0.450737	0.410000	0	3.000000e-01	5.600000e-01
PTPN23	25930	broad.mit.edu	37	3	47451949	47451949	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47451949C>A	ENST00000265562.4	+	20	2738	c.2661C>A	c.(2659-2661)atC>atA	p.I887I	PTPN23_ENST00000431726.1_Silent_p.I761I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23			23					TAGATAGCATCCAGGCGCCCA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000265562.4	0	1	hg19	CCDS2754.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	1	0	0	20	121	0	18	1	9.987547e-01	23	46	0	18	2		0	0	0	0	0	2	1	9.999964e-01	20	118	0	16	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998995	0.990000	1	9.900000e-01	1
PTPN23	25930	broad.mit.edu	37	3	47452754	47452754	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47452754G>T	ENST00000265562.4	+	20	3543	c.3466G>T	c.(3466-3468)Gcc>Tcc	p.A1156S	PTPN23_ENST00000431726.1_Missense_Mutation_p.A1030S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23			23					TCGGCCGCAGGCCCTGCGGCT	0.687000																								0							SO:0001583	missense			ENST00000265562.4	0	1	hg19	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958074	0.53400	.	.	ENSG00000076201	ENST00000265562	T	0.02682	4.2	4.78	4.78	0.61160	.	0.067857	0.64402	D	0.000018	T	0.03739	0.0106	N	0.24115	0.695	0.45607	D	0.998543	P;P	0.46987	0.888;0.888	P;P	0.44561	0.453;0.453	T	0.60566	-0.7238	10	0.40728	T	0.16	-18.1626	16.7279	0.85428	0.0:0.0:1.0:0.0	.	1030;1156	B4DST5;Q9H3S7	.;PTN23_HUMAN	S	1156	ENSP00000265562:A1156S	ENSP00000265562:A1156S	A	+	1	0	PTPN23	47427758	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	6.895000	0.75660	2.468000	0.83385	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	0	0	0	7	171	0	36	1	6.672709e-01	2	53	0	36	2		0	0	0	0	0	2	1	9.796578e-01	6	168	0	35	2								-9.673564	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.500000	0.220000	1.000000	0.460000	0.538428	0.500000	0	3.300000e-01	7.300000e-01
PTPN23	25930	broad.mit.edu	37	3	47454450	47454450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454450G>A	ENST00000265562.4	+	25	4763	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	PTPN23_ENST00000431726.1_Silent_p.P1436P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23			23					AGGAGGAGCCGCCAGTGCCTG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000265562.4	0	1	hg19	CCDS2754.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	1	0	0	19	112	0	20	1	9.999995e-01	7	159	0	20	2		0	0	0	0	0	2	1	9.999940e-01	19	111	0	20	2								-20.000000	1	0	121158	3	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999020	0.990000	1	9.900000e-01	1
PTPN23	25930	broad.mit.edu	37	3	47454517	47454517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454517C>A	ENST00000265562.4	+	25	4830	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23			23					CTCCTTGACCCCAGAGGCCTT	0.662000																								0							SO:0001583	missense			ENST00000265562.4	1	1	hg19	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802228	0.50315	.	.	ENSG00000076201	ENST00000265562	T	0.08008	3.14	4.72	4.72	0.59763	.	0.080102	0.49916	D	0.000132	T	0.12944	0.0314	L	0.29908	0.895	0.44627	D	0.997603	D	0.60160	0.987	P	0.54544	0.755	T	0.01464	-1.1348	10	0.72032	D	0.01	-10.3634	12.3772	0.55287	0.0:0.8296:0.1704:0.0	.	1585	Q9H3S7	PTN23_HUMAN	T	1585	ENSP00000265562:P1585T	ENSP00000265562:P1585T	P	+	1	0	PTPN23	47429521	0.998000	0.40836	0.695000	0.30226	0.993000	0.82548	4.195000	0.58400	2.146000	0.66826	0.563000	0.77884	CCA		TCGA-IB-7651-01A-11D-2154-08	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	1	0	1	36	150	0	40	1	1	57	87	0	40	2		0	0	0	0	0	2	1	1	34	144	0	40	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAP	22937	broad.mit.edu	37	3	47459949	47459949	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47459949G>A	ENST00000265565.5	-	15	2605	c.2193C>T	c.(2191-2193)cgC>cgT	p.R731R	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.R476R|SCAP_ENST00000545718.1_Silent_p.R339R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone			26					GGCATAGCACGCGGTAGAGGC	0.716000													Pancreas(149;978 1908 29304 37806 46700)											0							SO:0001819	synonymous_variant			ENST00000265565.5	1	1	hg19	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299887	0.05532	4.61E-4	0.0	ENSG00000114650	ENST00000383739	.	.	.	4.22	-6.18	0.02085	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54715	-0.8252	6	0.87932	D	0	-20.461	3.3723	0.07225	0.4167:0.336:0.1566:0.0906	.	.	.	.	C	256	.	ENSP00000373245:R256C	R	-	1	0	SCAP	47434953	0.000000	0.05858	0.607000	0.28956	0.034000	0.12701	-2.562000	0.00920	-1.126000	0.02929	-0.440000	0.05779	CGT		TCGA-IB-7651-01A-11D-2154-08	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	1	0	0	13	52	0	12	1	9.378695e-01	7	15	0	12	2		0	0	0	0	0	2	1	9.997224e-01	13	52	0	12	2								-19.999980	1	1	119184	7	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999550	0.990000	1	9.900000e-01	1
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone			26					CACTGCGGCCGTCCTGAGGGT	0.701000													Pancreas(149;978 1908 29304 37806 46700)											0							SO:0001819	synonymous_variant			ENST00000265565.5	0	1	hg19	CCDS2755.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	1	0	0	12	89	0	20	1	9.932899e-01	11	56	0	20	2		0	0	0	0	0	2	1	9.991189e-01	12	85	0	20	2								-19.595900	1	1	120778	5	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.780000	1.000000	1.000000	0.985017	0.990000	1	9.900000e-01	1
SCAP	22937	broad.mit.edu	37	3	47460857	47460857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460857G>A	ENST00000265565.5	-	13	2313	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P379L|SCAP_ENST00000545718.1_Missense_Mutation_p.P242L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone			26					GAAGAGCGTCGGCCAGTGGCG	0.582000													Pancreas(149;978 1908 29304 37806 46700)											0							SO:0001583	missense			ENST00000265565.5	1	1	hg19	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	33	5.284507	0.95517	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.84800	-1.9;-1.86;0.25	4.48	4.48	0.54585	.	0.057304	0.64402	D	0.000001	D	0.91372	0.7278	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	D	0.92528	0.6031	10	0.87932	D	0	-23.6223	16.9316	0.86191	0.0:0.0:1.0:0.0	.	379;634	F8W921;Q12770	.;SCAP_HUMAN	L	261;634;379;242	ENSP00000265565:P634L;ENSP00000416847:P379L;ENSP00000438956:P242L	ENSP00000265565:P634L	P	-	2	0	SCAP	47435861	1.000000	0.71417	0.934000	0.37439	0.986000	0.74619	9.336000	0.96533	2.316000	0.78162	0.462000	0.41574	CCG		TCGA-IB-7651-01A-11D-2154-08	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	1	0	0	12	329	0	68	1	8.637672e-01	2	98	0	68	2		0	0	0	0	0	2	1	9.990073e-01	13	319	0	68	2								-3.955097	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.430000	0.230000	1.000000	0.410000	0.473440	0.430000	0	3.200000e-01	5.900000e-01
SCAP	22937	broad.mit.edu	37	3	47467101	47467101	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47467101C>T	ENST00000265565.5	-	8	1323	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	SCAP_ENST00000441517.2_Splice_Site_p.R49Q|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone			26					GTCGATCTTCCCTGGAGGGCA	0.652000													Pancreas(149;978 1908 29304 37806 46700)											0							SO:0001630	splice_region_variant			ENST00000265565.5	1	0	hg19	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	37	6.098913	0.97281	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517	D;D	0.93247	-3.19;-3.19	5.42	5.42	0.78866	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	L	0.52364	1.645	0.80722	D	1	P;D	0.54601	0.95;0.967	P;P	0.59288	0.613;0.855	D	0.94139	0.7395	10	0.45353	T	0.12	.	18.9933	0.92803	0.0:1.0:0.0:0.0	.	49;304	F8W921;Q12770	.;SCAP_HUMAN	Q	304;304;49	ENSP00000265565:R304Q;ENSP00000416847:R49Q	ENSP00000265565:R304Q	R	-	2	0	SCAP	47442105	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.413000	0.80104	2.820000	0.97059	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	1	0	1	71	291	0	65	1	1	12	108	0	65	2		0	0	0	0	0	2	1	1	68	285	0	63	2								-3.275610	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPR1	3708	broad.mit.edu	37	3	4747971	4747971	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4747971C>T	ENST00000443694.2	+	34	4733	c.4733C>T	c.(4732-4734)gCc>gTc	p.A1578V	ITPR1_ENST00000354582.6_Missense_Mutation_p.A1593V|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1578V|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1			106				Caffeine(DB00201)	GCCCGCAATGCCGCACGCAGG	0.527000																								0							SO:0001583	missense			ENST00000443694.2	1	1	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868283	0.51588	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.26	5.26	0.73747	.	0.108661	0.64402	D	0.000005	T	0.57475	0.2056	L	0.40543	1.245	0.80722	D	1	B;B	0.25390	0.005;0.125	B;B	0.32624	0.003;0.149	T	0.51826	-0.8656	10	0.14252	T	0.57	.	19.2432	0.93891	0.0:1.0:0.0:0.0	.	1593;1584	Q14643;G5E9P1	ITPR1_HUMAN;.	V	1593;1578;1593;1584;39;1584;1569;1578	ENSP00000306253:A1578V;ENSP00000346595:A1593V;ENSP00000405934:A1584V;ENSP00000349597:A1584V;ENSP00000397885:A1569V;ENSP00000401671:A1578V	ENSP00000306253:A1578V	A	+	2	0	ITPR1	4722971	1.000000	0.71417	0.864000	0.33941	0.356000	0.29392	5.835000	0.69368	2.609000	0.88269	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	1	32	188	0	39	1	9.812681e-01	2	38	0	39	2		0	0	0	0	0	2	1	1	32	185	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999920	0.990000	1	9.900000e-01	1
CSPG5	10675	broad.mit.edu	37	3	47618869	47618869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47618869A>G	ENST00000383738.2	-	2	2745	c.647T>C	c.(646-648)cTg>cCg	p.L216P	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P|CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)			22					CTCACCATCCAGTCCTTCGAA	0.587000																								0							SO:0001583	missense			ENST00000383738.2	1	1	hg19	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935608	0.73442	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.56444	0.46;0.46;0.46	4.41	4.41	0.53225	Chondroitin sulphate attachment (1);	0.238565	0.28544	N	0.014970	T	0.58680	0.2139	L	0.27053	0.805	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.59994	-0.7349	10	0.46703	T	0.11	-9.1734	12.8895	0.58064	1.0:0.0:0.0:0.0	.	216;216	O95196;O95196-2	CSPG5_HUMAN;.	P	78;216;216	ENSP00000392096:L78P;ENSP00000373244:L216P;ENSP00000264723:L216P	ENSP00000264723:L216P	L	-	2	0	CSPG5	47593873	0.947000	0.32204	0.998000	0.56505	0.990000	0.78478	3.974000	0.56852	1.969000	0.57287	0.523000	0.50628	CTG		TCGA-IB-7651-01A-11D-2154-08	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	1	0	1	42	207	0	46	0	2.751311e-01	1	5	0	46	2		0	0	0	0	0	2	1	1	41	203	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CSPG5	10675	broad.mit.edu	37	3	47619042	47619042	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47619042G>A	ENST00000383738.2	-	2	2572	c.474C>T	c.(472-474)ggC>ggT	p.G158G	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.G20G|CSPG5_ENST00000264723.4_Silent_p.G158G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)			22					TCAGCTTGTCGCCGGGGGTGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000383738.2	1	1	hg19	CCDS56253.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	1	0	1	91	358	0	66	1	1.876223e-01	2	2	0	66	2		0	0	0	0	0	2	1	1	89	347	0	62	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCC1	6599	broad.mit.edu	37	3	47651741	47651741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47651741C>T	ENST00000254480.5	-	26	2977	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1			33					CTGTCGTGCTCGTAATTCAGC	0.537000																								0							SO:0001583	missense			ENST00000254480.5	1	1	hg19	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934430	0.52866	.	.	ENSG00000173473	ENST00000254480	T	0.16597	2.33	6.06	5.19	0.71726	.	0.062950	0.64402	D	0.000016	T	0.32882	0.0844	M	0.75447	2.3	0.46078	D	0.99885	D	0.58268	0.982	P	0.51415	0.669	T	0.17992	-1.0351	10	0.87932	D	0	-11.0315	14.4989	0.67707	0.0:0.9302:0.0:0.0698	.	953	Q92922	SMRC1_HUMAN	Q	953	ENSP00000254480:R953Q	ENSP00000254480:R953Q	R	-	2	0	SMARCC1	47626745	1.000000	0.71417	0.868000	0.34077	0.009000	0.06853	4.547000	0.60712	1.571000	0.49722	-0.140000	0.14226	CGA		TCGA-IB-7651-01A-11D-2154-08	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1	0	0	0	47	1108	0	216	1	9.920490e-01	7	167	0	216	2		0	0	0	0	0	2	1	1	47	1081	0	214	2								-3.048194	1	1	121412	4	42	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.480000	0.350000	1.000000	0.480000	0.517468	0.480000	0	4.100000e-01	5.800000e-01
SMARCC1	6599	broad.mit.edu	37	3	47742803	47742803	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47742803A>G	ENST00000254480.5	-	11	1249	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1			33					TATATTGGGTACAGGTGTTGG	0.398000																								0							SO:0001583	missense			ENST00000254480.5	1	1	hg19	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.212239	0.39102	.	.	ENSG00000173473	ENST00000254480	T	0.44881	0.91	5.62	5.62	0.85841	.	0.050986	0.85682	D	0.000000	T	0.44138	0.1279	M	0.64404	1.975	0.38441	D	0.946719	P	0.36753	0.568	B	0.38106	0.265	T	0.46624	-0.9178	10	0.35671	T	0.21	-20.6406	14.9784	0.71293	1.0:0.0:0.0:0.0	.	377	Q92922	SMRC1_HUMAN	A	377	ENSP00000254480:V377A	ENSP00000254480:V377A	V	-	2	0	SMARCC1	47717807	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.188000	0.65093	2.263000	0.75096	0.524000	0.50904	GTA		TCGA-IB-7651-01A-11D-2154-08	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1	1	0	1	61	286	0	62	1	1	47	104	0	62	2		0	0	0	0	0	2	1	1	59	280	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX30	22907	broad.mit.edu	37	3	47868868	47868868	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47868868G>T	ENST00000445061.1	+	5	563	c.156G>T	c.(154-156)caG>caT	p.Q52H	DHX30_ENST00000446256.2_Missense_Mutation_p.Q13H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q24H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30			37					AGTTCCCACAGCCCAAAAATC	0.398000																								0							SO:0001583	missense			ENST00000445061.1	1	1	hg19	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144990	0.37825	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03212	4.03;4.02;4.03;4.01	5.42	3.64	0.41730	.	0.210963	0.40818	N	0.001014	T	0.04003	0.0112	L	0.36672	1.1	0.40277	D	0.978354	B;P;P	0.40032	0.42;0.555;0.699	B;B;B	0.39935	0.119;0.237;0.314	T	0.54642	-0.8263	10	0.37606	T	0.19	.	9.2676	0.37650	0.1633:0.0:0.8367:0.0	.	52;13;80	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	H	13;52;24;80	ENSP00000392601:Q13H;ENSP00000405620:Q52H;ENSP00000343442:Q24H;ENSP00000394682:Q80H	ENSP00000343442:Q24H	Q	+	3	2	DHX30	47843872	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.307000	0.51888	0.677000	0.31305	-0.136000	0.14681	CAG		TCGA-IB-7651-01A-11D-2154-08	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1	31	338	0	87	1	9.990997e-01	21	97	0	87	2		0	0	0	0	0	2	1	1	30	332	0	87	2								-10.020530	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.690000	1.000000	1.000000	0.939880	0.990000	1	8.400000e-01	1
DHX30	22907	broad.mit.edu	37	3	47882405	47882405	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47882405C>T	ENST00000445061.1	+	7	812	c.405C>T	c.(403-405)gaC>gaT	p.D135D	DHX30_ENST00000446256.2_Silent_p.D96D|DHX30_ENST00000348968.4_Silent_p.D107D|DHX30_ENST00000457607.1_Silent_p.D163D	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30			37					AGTTGTTTGACGCAGCCAAAT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000445061.1	1	1	hg19	CCDS2759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1	63	284	0	63	1	1	33	116	0	63	2		0	0	0	0	0	2	1	1	62	279	0	63	2								-20.000000	1	1	121412	3	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX30	22907	broad.mit.edu	37	3	47884644	47884644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47884644C>T	ENST00000445061.1	+	9	1245	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	DHX30_ENST00000446256.2_Missense_Mutation_p.L241F|DHX30_ENST00000348968.4_Missense_Mutation_p.L252F|DHX30_ENST00000457607.1_Missense_Mutation_p.L308F	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30			37					GCTGTCTACACTCACCCTGCT	0.532000																								0							SO:0001583	missense			ENST00000445061.1	1	1	hg19	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705149	0.89018	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04706	3.63;3.6;3.62;3.57	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.19287	0.0463	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.996;0.998	T	0.00137	-1.2004	10	0.51188	T	0.08	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	280;241	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	F	241;280;252;308	ENSP00000392601:L241F;ENSP00000405620:L280F;ENSP00000343442:L252F;ENSP00000394682:L308F	ENSP00000343442:L252F	L	+	1	0	DHX30	47859648	1.000000	0.71417	0.975000	0.42487	0.975000	0.68041	5.579000	0.67457	2.451000	0.82905	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1	102	507	0	107	1	1	70	142	0	107	2		0	0	0	0	0	2	1	1	100	496	0	107	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX30	22907	broad.mit.edu	37	3	47887317	47887317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47887317G>A	ENST00000445061.1	+	10	1474	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	DHX30_ENST00000446256.2_Missense_Mutation_p.R317H|DHX30_ENST00000348968.4_Missense_Mutation_p.R328H|DHX30_ENST00000457607.1_Missense_Mutation_p.R384H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30			37					CCCATCCTCCGCAAGATAGAG	0.597000																								0							SO:0001583	missense			ENST00000445061.1	1	1	hg19	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602048	0.66445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03272	4.0;4.0;4.0;3.99	5.38	4.5	0.54988	.	0.295143	0.36815	N	0.002387	T	0.03136	0.0092	L	0.36672	1.1	0.39684	D	0.970949	P;P	0.47677	0.803;0.899	B;B	0.36030	0.075;0.216	T	0.50906	-0.8772	10	0.49607	T	0.09	.	8.9981	0.36066	0.1622:0.0:0.8378:0.0	.	356;317	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	317;356;328;384	ENSP00000392601:R317H;ENSP00000405620:R356H;ENSP00000343442:R328H;ENSP00000394682:R384H	ENSP00000343442:R328H	R	+	2	0	DHX30	47862321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.898000	0.48672	2.527000	0.85204	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1	61	256	0	77	1	1	40	136	0	77	2		0	0	0	0	0	2	1	1	61	243	0	72	2								-3.356791	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX30	22907	broad.mit.edu	37	3	47891449	47891449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891449C>T	ENST00000445061.1	+	22	3831	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W	DHX30_ENST00000446256.2_Missense_Mutation_p.R1103W|DHX30_ENST00000348968.4_Missense_Mutation_p.R1114W|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30			37					GAAGGAGCTGCGGCGGGCCCT	0.697000											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000445061.1	1	1	hg19	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214897	0.79352	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.10192	2.95;2.92;2.94;2.9	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.03662	-1.1015	10	0.87932	D	0	.	16.6955	0.85334	0.0:1.0:0.0:0.0	.	1142;1103	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	W	1103;1142;1114;1170	ENSP00000392601:R1103W;ENSP00000405620:R1142W;ENSP00000343442:R1114W;ENSP00000394682:R1170W	ENSP00000343442:R1114W	R	+	1	2	DHX30	47866453	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.851000	0.55926	2.160000	0.67779	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1	32	205	0	34	1	9.999972e-01	59	73	0	34	2		0	0	0	0	0	2	1	1	31	201	0	34	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999738	0.990000	1	9.900000e-01	1
DHX30	22907	broad.mit.edu	37	3	47891485	47891485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891485C>T	ENST00000445061.1	+	22	3867	c.3460C>T	c.(3460-3462)Cgc>Tgc	p.R1154C	DHX30_ENST00000446256.2_Missense_Mutation_p.R1115C|DHX30_ENST00000348968.4_Missense_Mutation_p.R1126C|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30			37					GCGGAGCCTGCGCAGCGAGCT	0.692000											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000445061.1	1	1	hg19	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701653	0.30142	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	5.0	5.0	0.66597	.	0.304423	0.35772	N	0.003000	T	0.02342	0.0072	N	0.12182	0.205	0.45056	D	0.998076	B;B	0.17667	0.006;0.023	B;B	0.15484	0.001;0.013	T	0.51896	-0.8647	10	0.41790	T	0.15	.	6.0639	0.19852	0.1895:0.7111:0.0:0.0994	.	1154;1115	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	C	1115;1154;1126;1182	ENSP00000392601:R1115C;ENSP00000405620:R1154C;ENSP00000343442:R1126C;ENSP00000394682:R1182C	ENSP00000343442:R1126C	R	+	1	0	DHX30	47866489	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.043000	0.41231	2.303000	0.77524	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	1	0	1	26	129	0	22	1	9.999142e-01	41	37	0	22	2		0	0	0	0	0	2	1	1	26	128	0	22	2								-20.000000	1	0	121158	1	25	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
MAP4	4134	broad.mit.edu	37	3	47912583	47912583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47912583C>T	ENST00000360240.6	-	13	3097	c.2579G>A	c.(2578-2580)cGc>cAc	p.R860H	MAP4_ENST00000426837.2_Missense_Mutation_p.R2005H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H|MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H|MAP4_ENST00000264724.11_Missense_Mutation_p.R595H|MAP4_ENST00000420772.2_Missense_Mutation_p.R591H	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4			32				Docetaxel(DB01248)|Paclitaxel(DB01229)	GCTCTTTGGGCGACTCAAGTC	0.567000																								0							SO:0001583	missense			ENST00000360240.6	1	1	hg19	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432443	0.83776	0.0	1.16E-4	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.36157	2.82;1.3;2.93;3.09;2.92;2.08;2.0;1.27	5.65	3.88	0.44766	.	.	.	.	.	T	0.57695	0.2071	M	0.72894	2.215	0.25677	N	0.985832	D;D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;1.0;0.066	D;D;D;D;D;B	0.97110	0.995;1.0;1.0;0.999;0.999;0.01	T	0.49707	-0.8911	9	0.66056	D	0.02	-1.0124	11.2513	0.49028	0.0:0.8533:0.0:0.1467	.	591;595;860;860;595;588	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1	.;.;.;MAP4_HUMAN;.;.	H	588;595;860;2005;860;591;226;12;595	ENSP00000373243:R588H;ENSP00000264724:R595H;ENSP00000379083:R860H;ENSP00000407602:R2005H;ENSP00000353375:R860H;ENSP00000409731:R591H;ENSP00000334770:R226H;ENSP00000415130:R12H	ENSP00000264724:R595H	R	-	2	0	MAP4	47887587	1.000000	0.71417	0.705000	0.30386	0.968000	0.65278	4.674000	0.61612	0.754000	0.32968	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	1	0	1	100	414	0	93	1	1	101	405	0	93	2		0	0	0	0	0	2	1	1	98	405	0	93	2								-20.000000	1	1	121412	5	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAMP	820	broad.mit.edu	37	3	48266844	48266844	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266844A>G	ENST00000576243.1	+	4	583	c.443A>G	c.(442-444)aAa>aGa	p.K148R	CAMP_ENST00000296435.2_Missense_Mutation_p.K151R			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide			6					AAGATTGGCAAAGAGTTTAAA	0.468000																								0							SO:0001583	missense			ENST00000576243.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	9.524	1.109045	0.20714	.	.	ENSG00000164047	ENST00000296435	.	.	.	4.43	-7.69	0.01263	Cathelicidin, antimicrobial peptide, C-terminal (1);	1.918670	0.01955	N	0.042902	T	0.15046	0.0363	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	9	0.25106	T	0.35	-0.4611	7.0673	0.25159	0.425:0.0:0.455:0.12	.	148	P49913	CAMP_HUMAN	R	148	.	ENSP00000296435:K148R	K	+	2	0	CAMP	48241848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.654000	0.01984	-1.492000	0.01838	-0.232000	0.12228	AAA		TCGA-IB-7651-01A-11D-2154-08	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	140	674	0	146	0	0	0	1	0	146	2		0	0	0	0	1	2	1	1	135	669	0	146	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPR1	3708	broad.mit.edu	37	3	4836804	4836804	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4836804G>A	ENST00000443694.2	+	50	6819	c.6819G>A	c.(6817-6819)tcG>tcA	p.S2273S	ITPR1_ENST00000354582.6_Silent_p.S2273S|ITPR1_ENST00000357086.4_Silent_p.S2240S|ITPR1_ENST00000423119.2_Silent_p.S2240S|ITPR1_ENST00000456211.2_Silent_p.S2225S|ITPR1_ENST00000302640.8_Silent_p.S2273S|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1			106				Caffeine(DB00201)	GCAGCATTTCGTTTAACCTGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000443694.2	1	1	hg19	CCDS54551.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	0	28	110	0	24	1	9.999805e-01	6	67	0	24	2		0	0	0	0	0	2	1	1	28	109	0	23	2								-20.000000	1	1	121042	4	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PLXNB1	5364	broad.mit.edu	37	3	48451722	48451722	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48451722T>C	ENST00000358536.4	-	31	5857	c.5588A>G	c.(5587-5589)gAt>gGt	p.D1863G	PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1			47					AGGGACATAATCCTGGTTTTC	0.632000																								0							SO:0001583	missense			ENST00000358536.4	1	1	hg19	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824221	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	3.98	3.98	0.46160	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.056764	0.64402	U	0.000002	T	0.29914	0.0748	M	0.64997	1.995	0.80722	D	1	D;B	0.64830	0.994;0.222	D;B	0.69142	0.962;0.199	T	0.02214	-1.1194	10	0.27082	T	0.32	.	12.0712	0.53618	0.0:0.0:0.0:1.0	.	1863;1680	O43157;O43157-2	PLXB1_HUMAN;.	G	1863;1680;1863;474;1680	ENSP00000296440:D1863G;ENSP00000351242:D1680G;ENSP00000351338:D1863G;ENSP00000389320:D474G;ENSP00000414199:D1680G	ENSP00000296440:D1863G	D	-	2	0	PLXNB1	48426726	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.639000	0.83342	1.422000	0.47177	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	1	0	1	28	121	0	35	1	9.996603e-01	17	41	0	35	2		0	0	0	0	0	2	1	1	28	113	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PLXNB1	5364	broad.mit.edu	37	3	48454198	48454198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48454198G>T	ENST00000358536.4	-	25	5076	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1			47					AGCTGCCCCAGCCCTTGCTCC	0.647000																								0							SO:0001583	missense			ENST00000358536.4	1	1	hg19	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339755	0.60963	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	4.11	3.23	0.37069	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.177773	0.38381	N	0.001713	T	0.33000	0.0848	L	0.50919	1.6	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05178	-1.0901	10	0.36615	T	0.2	.	5.5039	0.16844	0.3324:0.0:0.6676:0.0	.	1603;1420	O43157;O43157-2	PLXB1_HUMAN;.	M	1603;1420;1603;214;1420	ENSP00000296440:L1603M;ENSP00000351242:L1420M;ENSP00000351338:L1603M;ENSP00000389320:L214M;ENSP00000414199:L1420M	ENSP00000296440:L1603M	L	-	1	2	PLXNB1	48429202	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.458000	0.45014	1.064000	0.40671	0.551000	0.68910	CTG		TCGA-IB-7651-01A-11D-2154-08	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	1	0	1	52	234	0	57	1	9.999902e-01	32	48	0	57	2		0	0	0	0	0	2	1	1	51	229	0	57	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNB1	5364	broad.mit.edu	37	3	48463136	48463136	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48463136G>T	ENST00000358536.4	-	7	1869	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1			47					GCCACTTGCAGACAGCCCAGC	0.632000																								0							SO:0001583	missense			ENST00000358536.4	1	1	hg19	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826166	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03524	3.9;3.93;3.9;3.93	5.62	2.84	0.33178	.	0.000000	0.64402	D	0.000002	T	0.12433	0.0302	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.00909	-1.1518	10	0.46703	T	0.11	.	10.3248	0.43787	0.2161:0.0:0.7839:0.0	.	534;534	O43157;O43157-2	PLXB1_HUMAN;.	M	534	ENSP00000296440:L534M;ENSP00000351242:L534M;ENSP00000351338:L534M;ENSP00000414199:L534M	ENSP00000296440:L534M	L	-	1	2	PLXNB1	48438140	1.000000	0.71417	0.694000	0.30210	0.174000	0.22865	2.154000	0.42291	0.738000	0.32606	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	1	0	1	54	254	0	68	1	9.921959e-01	10	28	0	68	2		0	0	0	0	0	2	1	1	53	248	0	68	2								-3.388988	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPR1	3708	broad.mit.edu	37	3	4847865	4847865	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4847865C>A	ENST00000443694.2	+	52	7141	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	ITPR1_ENST00000354582.6_Missense_Mutation_p.L2381M|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M|ITPR1_ENST00000302640.8_Missense_Mutation_p.L2381M|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1			106				Caffeine(DB00201)	AGCCATGGTTCTGGATGTTGA	0.453000																								0							SO:0001583	missense			ENST00000443694.2	1	1	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394562	0.04899	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97430	-2.77;-2.77;-2.77;-2.77;-2.77;-4.38;-2.77	5.07	4.2	0.49525	Ion transport (1);	0.176545	0.46442	D	0.000284	D	0.89522	0.6739	N	0.01267	-0.92	0.33300	D	0.564656	B;B;B	0.24963	0.115;0.001;0.002	B;B;B	0.37989	0.262;0.006;0.004	D	0.87271	0.2286	10	0.29301	T	0.29	.	6.6622	0.23020	0.155:0.6874:0.0:0.1575	.	359;2396;2348	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	M	2396;2381;2381;2348;842;2348;2333;359;2381	ENSP00000306253:L2381M;ENSP00000346595:L2381M;ENSP00000405934:L2348M;ENSP00000349597:L2348M;ENSP00000397885:L2333M;ENSP00000440564:L359M;ENSP00000401671:L2381M	ENSP00000306253:L2381M	L	+	1	2	ITPR1	4822865	0.445000	0.25657	0.981000	0.43875	0.971000	0.66376	0.973000	0.29422	1.273000	0.44346	-0.218000	0.12543	CTG		TCGA-IB-7651-01A-11D-2154-08	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	1	61	215	0	37	1	9.999895e-01	4	59	0	37	2		0	0	0	0	0	2	1	1	61	210	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATRIP	84126	broad.mit.edu	37	3	48495698	48495698	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48495698A>C	ENST00000320211.3	+	4	665		c.e4-1		ATRIP_ENST00000412052.1_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000346691.4_Splice_Site	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein			22					TTTGCCTTCCAGCTCCAATCA	0.393000								Other conserved DNA damage response genes																0							SO:0001630	splice_region_variant			ENST00000320211.3	1	1	hg19	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815203	0.70912	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.136	0.65289	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRIP	48470702	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.099000	0.76981	2.222000	0.72286	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	1	0	1	111	687	0	165		0	0	0	0	165	2		0	0	0	0	0	2	1	1	111	675	0	165	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATRIP	84126	broad.mit.edu	37	3	48506304	48506304	+	Silent	SNP	C	C	T	rs3135938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48506304C>T	ENST00000320211.3	+	12	2243	c.2130C>T	c.(2128-2130)acC>acT	p.T710T	TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000444177.1_5'Flank|ATRIP_ENST00000412052.1_Silent_p.T617T|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000296443.9_5'Flank|ATRIP_ENST00000357105.6_Silent_p.T583T|ATRIP_ENST00000346691.4_Silent_p.T683T|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000436480.2_5'Flank|SHISA5_ENST00000465449.1_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein			22					CCCCAAGGACCGACCAGCAGA	0.642000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000320211.3	1	1	hg19	CCDS2768.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	1	0	1	42	183	0	35	1	9.998849e-01	23	40	0	35	2		0	0	0	0	0	2	1	1	42	182	0	35	2								-3.493764	1	1	121410	7	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TREX1	11277	broad.mit.edu	37	3	48508597	48508597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48508597C>T	ENST00000422277.2	+	1	1369	c.708C>T	c.(706-708)agC>agT	p.S236S	TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000456089.1_Silent_p.S42S|TREX1_ENST00000296443.9_Silent_p.S181S|TREX1_ENST00000436480.2_Silent_p.S181S|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000492235.1_3'UTR	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1			9					GCCTAGGCAGCATCTACACTC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000422277.2	1	1	hg19	CCDS43086.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	51	233	0	51	1	1	13	117	0	51	2		0	0	0	0	0	2	1	1	50	225	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPR1	3708	broad.mit.edu	37	3	4852977	4852977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4852977C>T	ENST00000443694.2	+	53	7256	c.7256C>T	c.(7255-7257)aCt>aTt	p.T2419I	ITPR1_ENST00000354582.6_Missense_Mutation_p.T2419I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I|ITPR1_ENST00000302640.8_Missense_Mutation_p.T2419I|ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1			106				Caffeine(DB00201)	AGAGAAGAGACTTTGCTTAAT	0.388000																								0							SO:0001583	missense			ENST00000443694.2	1	1	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003787	0.93287	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.38	5.38	0.77491	Ion transport (1);	0.099034	0.64402	D	0.000001	D	0.99165	0.9711	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99601	1.0978	10	0.51188	T	0.08	.	19.12	0.93358	0.0:1.0:0.0:0.0	.	397;2434;2386	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	I	2434;2419;2419;2386;880;2386;2371;397;2419	ENSP00000306253:T2419I;ENSP00000346595:T2419I;ENSP00000405934:T2386I;ENSP00000349597:T2386I;ENSP00000397885:T2371I;ENSP00000440564:T397I;ENSP00000401671:T2419I	ENSP00000306253:T2419I	T	+	2	0	ITPR1	4827977	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.724000	0.84798	2.509000	0.84616	0.563000	0.77884	ACT		TCGA-IB-7651-01A-11D-2154-08	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	1	30	136	0	25	1	9.982063e-01	3	45	0	25	2		0	0	0	0	0	2	1	1	30	133	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ITPR1	3708	broad.mit.edu	37	3	4856239	4856239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4856239C>T	ENST00000443694.2	+	55	7649	c.7649C>T	c.(7648-7650)tCc>tTc	p.S2550F	ITPR1_ENST00000354582.6_Missense_Mutation_p.S2550F|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2550F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|AC018816.3_ENST00000449914.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1			106				Caffeine(DB00201)	AGGAAGCCGTCCAAAGAGGTA	0.567000																								0							SO:0001583	missense			ENST00000443694.2	0	1	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921796	0.92319	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97831	-2.97;-2.98;-2.97;-2.97;-2.97;-4.56;-2.97	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.996;1.0;0.968	D	0.99858	1.1079	10	0.87932	D	0	.	18.157	0.89694	0.0:1.0:0.0:0.0	.	528;2565;2517	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	F	2565;2550;2550;2517;1011;2517;2502;528;2550	ENSP00000306253:S2550F;ENSP00000346595:S2550F;ENSP00000405934:S2517F;ENSP00000349597:S2517F;ENSP00000397885:S2502F;ENSP00000440564:S528F;ENSP00000401671:S2550F	ENSP00000306253:S2550F	S	+	2	0	ITPR1	4831239	1.000000	0.71417	0.986000	0.45419	0.937000	0.57800	7.414000	0.80117	2.269000	0.75478	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	0	0	0	6	230	0	47	0	5.354728e-01	0	64	0	47	2		0	0	0	0	0	2	1	9.636588e-01	6	226	0	47	2								-7.577315	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.330000	0.130000	1.000000	0.300000	0.377877	0.330000	0	2.100000e-01	5.000000e-01
PFKFB4	5210	broad.mit.edu	37	3	48587583	48587583	+	Missense_Mutation	SNP	C	C	T	rs147977517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48587583C>T	ENST00000232375.3	-	2	294	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4			14					GTTCAGGTATCGAGTCAGCTT	0.562000																								0							SO:0001583	missense			ENST00000232375.3	1	1	hg19	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561027	0.96527	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.89	4.89	0.63831	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.993;0.994;0.997;0.966	D	0.89580	0.3820	9	0.87932	D	0	-5.0995	15.5865	0.76489	0.0:1.0:0.0:0.0	.	50;61;61;61	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	Q	61;50;61;61;27;61;50;27;64	.	ENSP00000232375:R61Q	R	-	2	0	PFKFB4	48562587	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	5.737000	0.68606	2.532000	0.85374	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	1	0	1	48	221	0	61	1	9.674336e-01	4	24	0	61	2		0	0	0	0	0	2	1	1	47	212	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UCN2	90226	broad.mit.edu	37	3	48600466	48600466	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48600466C>T	ENST00000273610.3	-	2	174	c.92G>A	c.(91-93)cGc>cAc	p.R31H	COL7A1_ENST00000470076.1_5'Flank|PFKFB4_ENST00000536104.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2								ATTCTGAGGGCGGAGCTGGAA	0.637000																								0							SO:0001583	missense			ENST00000273610.3	0	1	hg19	CCDS2772.1	.	.	.	.	.	.	.	.	.	.	C	9.062	0.994809	0.19043	.	.	ENSG00000145040	ENST00000273610	.	.	.	5.28	-1.96	0.07525	.	1.516670	0.04388	N	0.361943	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	9	0.46703	T	0.11	-14.0371	1.3254	0.02124	0.3784:0.1599:0.3189:0.1429	.	31	Q96RP3	UCN2_HUMAN	H	31	.	ENSP00000273610:R31H	R	-	2	0	UCN2	48575470	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.038000	0.13862	-0.329000	0.08527	-1.104000	0.02111	CGC		TCGA-IB-7651-01A-11D-2154-08	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257510.1	1	0	1	19	86	0	12	0	9.436299e-02	0	3	0	12	2		0	0	0	0	0	2	1	9.999943e-01	19	84	0	12	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999883	0.990000	1	9.900000e-01	1
COL7A1	1294	broad.mit.edu	37	3	48611968	48611968	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48611968T>C	ENST00000328333.8	-	78	6516	c.6409A>G	c.(6409-6411)Aaa>Gaa	p.K2137E	COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1			137					CGGTCTCCTTTGATGCCTGGC	0.622000																								0							SO:0001583	missense			ENST00000328333.8	1	1	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991386	0.35131	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94280	-3.39;-3.39	4.71	4.71	0.59529	.	0.000000	0.42172	D	0.000743	D	0.95258	0.8462	M	0.79258	2.445	0.29570	N	0.849991	D	0.64830	0.994	D	0.64506	0.926	D	0.90654	0.4585	10	0.10111	T	0.7	.	13.4488	0.61158	0.0:0.0:0.0:1.0	.	2137	Q02388	CO7A1_HUMAN	E	2137;2105	ENSP00000332371:K2137E;ENSP00000412569:K2105E	ENSP00000332371:K2137E	K	-	1	0	COL7A1	48586972	0.983000	0.35010	1.000000	0.80357	0.136000	0.21042	2.066000	0.41452	2.099000	0.63709	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1	47	175	0	59	0	9.994014e-01	1	44	0	59	2		0	0	0	0	0	2	1	1	46	173	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL7A1	1294	broad.mit.edu	37	3	48612815	48612815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48612815C>T	ENST00000328333.8	-	73	6244	c.6137G>A	c.(6136-6138)gGc>gAc	p.G2046D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1			137					CCCAGCCCTGCCTGGGAGCCC	0.721000																								0		GRCh37	CM992849	COL7A1	M		SO:0001583	missense			ENST00000328333.8	1	1	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122614	0.56613	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99353	-5.77;-5.77	5.22	5.22	0.72569	.	0.433234	0.17763	N	0.162822	D	0.99736	0.9896	H	0.99011	4.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97496	1.0057	10	0.72032	D	0.01	.	18.7955	0.91993	0.0:1.0:0.0:0.0	.	2046	Q02388	CO7A1_HUMAN	D	2046;2014	ENSP00000332371:G2046D;ENSP00000412569:G2014D	ENSP00000332371:G2046D	G	-	2	0	COL7A1	48587819	1.000000	0.71417	0.977000	0.42913	0.921000	0.55340	7.570000	0.82390	2.426000	0.82243	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	0	47	213	0	51	0	8.353871e-01	1	16	0	51	2		0	0	0	0	0	2	1	1	45	203	0	50	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL7A1	1294	broad.mit.edu	37	3	48619008	48619008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48619008G>A	ENST00000328333.8	-	49	4887	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1			137					TGATTCACCCGGTCTCCAGGG	0.587000																								0							SO:0001583	missense			ENST00000328333.8	1	1	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454391	0.43634	2.27E-4	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94376	-3.41;-3.41	5.25	-1.97	0.07503	.	0.000000	0.42548	D	0.000689	D	0.95762	0.8621	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92216	0.5780	10	0.72032	D	0.01	.	15.715	0.77661	0.0:0.0:0.2756:0.7244	.	1594	Q02388	CO7A1_HUMAN	W	1594	ENSP00000332371:R1594W;ENSP00000412569:R1594W	ENSP00000332371:R1594W	R	-	1	2	COL7A1	48594012	0.393000	0.25237	0.249000	0.24280	0.176000	0.22953	0.247000	0.18179	-0.359000	0.08150	-0.183000	0.12914	CGG		TCGA-IB-7651-01A-11D-2154-08	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1	94	362	0	79	0	9.791205e-01	0	26	0	79	2		0	0	0	0	0	2	1	1	93	352	0	77	2								-3.140522	1	1	121410	5	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL7A1	1294	broad.mit.edu	37	3	48621004	48621004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621004C>T	ENST00000328333.8	-	40	4493	c.4386G>A	c.(4384-4386)ggG>ggA	p.G1462G	COL7A1_ENST00000454817.1_Silent_p.G1462G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1			137					CACCCGGAGACCCAGGTTGTC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000328333.8	1	1	hg19	CCDS2773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1	45	250	0	62	0	9.444880e-01	1	28	0	62	2		0	0	0	0	0	2	1	1	44	244	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
COL7A1	1294	broad.mit.edu	37	3	48621343	48621343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621343G>A	ENST00000328333.8	-	38	4375	c.4268C>T	c.(4267-4269)cCt>cTt	p.P1423L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1			137					CGGCAGCCCAGGCTCCCCAGG	0.642000																								0							SO:0001583	missense			ENST00000328333.8	1	1	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182693	0.38511	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.89270	-2.47;-2.49	5.2	5.2	0.72013	.	0.000000	0.46758	D	0.000273	D	0.94574	0.8252	M	0.86502	2.82	0.30089	N	0.808516	D	0.89917	1.0	D	0.66716	0.946	D	0.91979	0.5593	10	0.52906	T	0.07	.	15.6004	0.76620	0.0:0.0:1.0:0.0	.	1423	Q02388	CO7A1_HUMAN	L	1423	ENSP00000332371:P1423L;ENSP00000412569:P1423L	ENSP00000332371:P1423L	P	-	2	0	COL7A1	48596347	0.995000	0.38212	0.167000	0.22817	0.408000	0.30992	4.173000	0.58249	2.711000	0.92665	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	1	48	185	0	39	0	8.678611e-01	0	16	0	39	2		0	0	0	0	0	2	1	1	48	181	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL7A1	1294	broad.mit.edu	37	3	48621980	48621980	+	Nonsense_Mutation	SNP	C	C	A	rs149361101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621980C>A	ENST00000328333.8	-	35	4164	c.4057G>T	c.(4057-4059)Gga>Tga	p.G1353*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1			137					ATGACTTGTCCGGGAGCCCCC	0.582000																								0							SO:0001587	stop_gained			ENST00000328333.8	0	1	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	43	10.205791	0.99359	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.33	5.33	0.75918	.	0.000000	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7269	0.77766	0.0:1.0:0.0:0.0	.	.	.	.	X	1353	.	.	G	-	1	0	COL7A1	48596984	0.003000	0.15002	0.987000	0.45799	0.235000	0.25334	0.395000	0.20850	2.489000	0.83994	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	0	0	0	34	830	0	183	0	1.926293e-01	0	20	0	183	2		0	0	0	0	0	2	1	1	34	808	0	178	2								-2.819807	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.470000	0.320000	1.000000	0.460000	0.504929	0.470000	0	3.900000e-01	5.700000e-01
COL7A1	1294	broad.mit.edu	37	3	48631916	48631916	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48631916G>A	ENST00000328333.8	-	2	258	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1			137					AAATTGCTGCGGCCAATGGAT	0.602000																								0		GRCh37	CM063914	COL7A1	M		SO:0001583	missense			ENST00000328333.8	1	1	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.657006	0.47467	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83673	-1.75;-1.75	4.88	4.88	0.63580	von Willebrand factor, type A (3);	0.000000	0.45606	D	0.000358	D	0.91955	0.7452	M	0.90977	3.165	0.52501	D	0.999955	D	0.89917	1.0	D	0.85130	0.997	D	0.92770	0.6231	10	0.62326	D	0.03	.	11.3221	0.49428	0.0:0.0:0.7699:0.2301	.	51	Q02388	CO7A1_HUMAN	C	51	ENSP00000332371:R51C;ENSP00000412569:R51C	ENSP00000332371:R51C	R	-	1	0	COL7A1	48606920	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.687000	0.46976	2.425000	0.82216	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	1	0	0	43	153	0	42	0	9.094025e-01	1	16	0	42	2		0	0	0	0	0	2	1	1	42	150	0	42	2								-20.000000	1	1	121412	3	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A6	65010	broad.mit.edu	37	3	48670685	48670685	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670685C>A	ENST00000395550.2	-	3	368	c.321G>T	c.(319-321)caG>caT	p.Q107H	SLC26A6_ENST00000420764.2_Splice_Site_p.Q107H|SLC26A6_ENST00000383733.3_Splice_Site_p.Q107H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107H|SLC26A6_ENST00000455886.2_Splice_Site_p.Q107H|SLC26A6_ENST00000358747.6_Splice_Site_p.Q86H			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6		SLC26A6/PRKAR2A(2)	19					GTGGCTCACCCTGCGGAAGCT	0.592000													NSCLC(13;369 479 28271 30152 44026)											0							SO:0001630	splice_region_variant			ENST00000395550.2	1	0	hg19	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816124	0.70912	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.95238	-3.17;-3.17;-3.17;-3.65;-3.17;-3.17;-3.17;-3.17	4.84	2.06	0.26882	.	.	.	.	.	D	0.97558	0.9200	H	0.95043	3.615	0.39669	D	0.970724	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;0.999	D	0.96489	0.9362	9	0.87932	D	0	.	8.4616	0.32931	0.0:0.6957:0.0:0.3043	.	107;107;107;107;107;3501	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	H	107;107;107;107;107;86;107;107;107	ENSP00000404684:Q107H;ENSP00000378920:Q107H;ENSP00000373239:Q107H;ENSP00000337648:Q107H;ENSP00000351597:Q86H;ENSP00000401066:Q107H;ENSP00000401813:Q107H;ENSP00000405872:Q107H	ENSP00000307089:Q107H	Q	-	3	2	SLC26A6	48645689	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.877000	0.28106	0.245000	0.21373	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	1	0	1	21	79	0	20	1	9.599087e-01	2	21	0	20	2		0	0	0	0	0	2	1	9.999990e-01	21	79	0	20	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
SLC26A6	65010	broad.mit.edu	37	3	48670820	48670820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670820G>T	ENST00000395550.2	-	3	233	c.186C>A	c.(184-186)tgC>tgA	p.C62*	SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000358747.6_Nonsense_Mutation_p.C41*			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6		SLC26A6/PRKAR2A(2)	19					GAGCACGGGAGCACCTAGGGA	0.617000													NSCLC(13;369 479 28271 30152 44026)											0							SO:0001587	stop_gained			ENST00000395550.2	0	1	hg19	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312981	0.81358	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	.	.	.	4.89	0.825	0.18824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2132	0.37331	0.4019:0.0:0.5981:0.0	.	.	.	.	X	62;62;62;62;62;41;62;62;62	.	ENSP00000307089:C62X	C	-	3	2	SLC26A6	48645824	0.938000	0.31826	0.995000	0.50966	0.226000	0.24999	0.050000	0.14120	0.278000	0.22164	-0.258000	0.10820	TGC		TCGA-IB-7651-01A-11D-2154-08	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	1	0	1	57	217	0	48	1	9.249926e-01	6	13	0	48	2		0	0	0	0	0	2	1	1	57	215	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELSR3	1951	broad.mit.edu	37	3	48677614	48677614	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48677614G>T	ENST00000164024.4	-	34	9684	c.9404C>A	c.(9403-9405)gCt>gAt	p.A3135D	CELSR3_ENST00000544264.1_Missense_Mutation_p.A3140D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					GAAGCGGCCAGCCATGGCGCC	0.687000																								0							SO:0001583	missense			ENST00000164024.4	1	1	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862507	0.32884	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.52	4.81	3.91	0.45181	.	.	.	.	.	T	0.54319	0.1851	N	0.14661	0.345	0.21697	N	0.999586	B;B;B	0.26258	0.145;0.09;0.112	B;B;B	0.27380	0.079;0.036;0.036	T	0.49790	-0.8902	9	0.54805	T	0.06	.	9.9508	0.41638	0.0:0.1512:0.692:0.1568	.	3140;3135;3233	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	D	3135;3140	ENSP00000164024:A3135D;ENSP00000445694:A3140D	ENSP00000164024:A3135D	A	-	2	0	CELSR3	48652618	1.000000	0.71417	0.383000	0.26132	0.720000	0.41350	4.780000	0.62382	0.970000	0.38263	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1	85	310	0	75	1	5.411040e-01	5	3	0	75	2	1	1	139	474	0	534	2	1	1	84	304	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELSR3	1951	broad.mit.edu	37	3	48679431	48679431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48679431C>T	ENST00000164024.4	-	32	8957	c.8677G>A	c.(8677-8679)Gac>Aac	p.D2893N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D2898N|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					CTGTCAGAGTCGGAGTCTGCG	0.562000																								0							SO:0001583	missense			ENST00000164024.4	1	1	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881598	0.72294	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.80393	-1.37;-1.37	5.03	5.03	0.67393	.	.	.	.	.	D	0.90652	0.7068	M	0.82716	2.605	0.80722	D	1	P;P;D	0.89917	0.697;0.571;1.0	B;B;D	0.83275	0.103;0.048;0.996	D	0.91974	0.5589	9	0.87932	D	0	.	18.7191	0.91686	0.0:1.0:0.0:0.0	.	2898;2893;2991	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2893;2898	ENSP00000164024:D2893N;ENSP00000445694:D2898N	ENSP00000164024:D2893N	D	-	1	0	CELSR3	48654435	1.000000	0.71417	0.980000	0.43619	0.670000	0.39368	7.181000	0.77682	2.488000	0.83962	0.511000	0.50034	GAC		TCGA-IB-7651-01A-11D-2154-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1	16	114	0	27	1	2.766650e-01	3	5	0	27	2	1	1	55	238	0	205	2	1	9.999390e-01	16	110	0	27	2								-19.999980	1	1	120940	1	26	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.880000	1.000000	1.000000	0.993166	0.990000	1	9.900000e-01	1
CELSR3	1951	broad.mit.edu	37	3	48682471	48682471	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48682471G>T	ENST00000164024.4	-	25	8249	c.7969C>A	c.(7969-7971)Ctg>Atg	p.L2657M	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2662M|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					CCCTCACCCAGCAGCACAGCA	0.662000																								0							SO:0001583	missense			ENST00000164024.4	1	1	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365189	0.61513	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.47177	0.85;0.85	5.15	2.17	0.27698	GPCR, family 2-like (1);	.	.	.	.	T	0.42944	0.1225	N	0.20986	0.625	0.27077	N	0.963176	D;D	0.64830	0.994;0.988	P;P	0.62491	0.903;0.9	T	0.23619	-1.0183	9	0.36615	T	0.2	.	1.2483	0.01977	0.1901:0.1252:0.4207:0.264	.	2657;2754	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2657;2662	ENSP00000164024:L2657M;ENSP00000445694:L2662M	ENSP00000164024:L2657M	L	-	1	2	CELSR3	48657475	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.228000	0.42981	0.555000	0.29079	-0.339000	0.08088	CTG		TCGA-IB-7651-01A-11D-2154-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1	28	150	0	30	0	1.857396e-01	0	5	0	30	2	1	9.999994e-01	27	106	0	116	2	1	1	28	150	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999946	0.990000	1	9.900000e-01	1
CELSR3	1951	broad.mit.edu	37	3	48696595	48696595	+	Missense_Mutation	SNP	C	C	T	rs61729234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48696595C>T	ENST00000164024.4	-	1	3753	c.3473G>A	c.(3472-3474)cGc>cAc	p.R1158H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1158H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					GTCAACCAGGCGGACGTGCAC	0.532000																								0							SO:0001583	missense			ENST00000164024.4	1	0	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	5.571	0.290134	0.10567	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.51574	0.7;0.7	5.63	4.75	0.60458	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	N	0.20445	0.575	0.32999	D	0.525948	B;B	0.23316	0.083;0.047	B;B	0.25987	0.065;0.012	T	0.33317	-0.9873	9	0.11794	T	0.64	.	6.7548	0.23507	0.0:0.7018:0.0:0.2982	.	1158;1228	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1158	ENSP00000164024:R1158H;ENSP00000445694:R1158H	ENSP00000164024:R1158H	R	-	2	0	CELSR3	48671599	0.988000	0.35896	0.997000	0.53966	0.894000	0.52154	2.409000	0.44583	1.389000	0.46526	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1	83	436	0	92	0	6.987515e-02	0	3	0	92	2	1	1	46	288	0	284	2	1	1	83	426	0	92	2								-3.012515	1	1	121412	119	54	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELSR3	1951	broad.mit.edu	37	3	48698039	48698039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698039C>T	ENST00000164024.4	-	1	2309	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D677N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					TGGTCTGCATCGACTGCCTGA	0.498000																								0							SO:0001583	missense			ENST00000164024.4	1	1	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317535	0.81469	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73152	-0.72;-0.72	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92067	0.7486	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95019	0.8159	9	0.87932	D	0	.	20.1342	0.98015	0.0:1.0:0.0:0.0	.	677;747	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	677	ENSP00000164024:D677N;ENSP00000445694:D677N	ENSP00000164024:D677N	D	-	1	0	CELSR3	48673043	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.767000	0.85331	2.754000	0.94517	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1	57	219	0	64	1	2.810918e-01	2	3	0	64	2	1	1	247	1073	0	1259	2	1	1	55	216	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELSR3	1951	broad.mit.edu	37	3	48698703	48698703	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698703C>T	ENST00000164024.4	-	1	1645	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.L455L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					CAGTGGCACGCAGCTGCAGGA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000164024.4	1	1	hg19	CCDS2775.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	0	58	163	0	41		0	0	0	0	41	2	1	1	238	976	0	1040	2	1	1	58	163	0	38	2								-20.000000	1	1	121344	2	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CELSR3	1951	broad.mit.edu	37	3	48699383	48699383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48699383C>A	ENST00000164024.4	-	1	965	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.A229S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					CGCCGGGGGGCTGTCCTTTCT	0.652000																								0							SO:0001583	missense			ENST00000164024.4	1	1	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339064	0.01287	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69806	-0.43;-0.43	4.06	-1.23	0.09465	.	.	.	.	.	T	0.37210	0.0995	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.16722	0.01;0.016	T	0.17623	-1.0363	9	0.18710	T	0.47	.	2.846	0.05543	0.1907:0.5242:0.1239:0.1611	.	229;299	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	229	ENSP00000164024:A229S;ENSP00000445694:A229S	ENSP00000164024:A229S	A	-	1	0	CELSR3	48674387	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.520000	0.06252	-0.245000	0.09625	0.609000	0.83330	GCC		TCGA-IB-7651-01A-11D-2154-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	0	0	0	26	704	0	121		0	0	0	0	121	2	1	9.999999e-01	28	734	0	604	2	1	9.999999e-01	26	690	0	120	2								-3.761586	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.420000	0.280000	1.000000	0.420000	0.465279	0.420000	0	3.500000e-01	5.400000e-01
NCKIPSD	51517	broad.mit.edu	37	3	48717248	48717248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717248C>T	ENST00000294129.2	-	7	1455	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain			11					TGGTAATAGGCCACCAAGGCC	0.517000																								0							SO:0001583	missense			ENST00000294129.2	1	1	hg19	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.659780|2.659780	0.47572|0.47572	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129|ENST00000415281	T;T;T|.	0.64803|.	0.9;-0.12;-0.12|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.287923|.	0.28706|.	U|.	0.014408|.	T|T	0.70150|0.70150	0.3191|0.3191	L|L	0.51422|0.51422	1.61|1.61	0.39345|0.39345	D|D	0.965654|0.965654	P;P|.	0.38767|.	0.514;0.646|.	B;B|.	0.36608|.	0.115;0.229|.	T|T	0.68780|0.68780	-0.5318|-0.5318	10|5	0.14656|.	T|.	0.56|.	.|.	18.7356|18.7356	0.91753|0.91753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446;439|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	T|D	446;439;446|181	ENSP00000342621:A446T;ENSP00000389059:A439T;ENSP00000294129:A446T|.	ENSP00000294129:A446T|.	A|G	-|-	1|2	0|0	NCKIPSD|NCKIPSD	48692252|48692252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.733000|3.733000	0.55029|0.55029	2.424000|2.424000	0.82194|0.82194	0.563000|0.563000	0.77884|0.77884	GCC|GGC		TCGA-IB-7651-01A-11D-2154-08	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	1	0	1	85	293	0	72	1	9.999117e-01	9	41	0	72	2		0	0	0	0	0	2	1	1	84	285	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCKIPSD	51517	broad.mit.edu	37	3	48717612	48717612	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717612C>T	ENST00000294129.2	-	6	1262	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	NCKIPSD_ENST00000416649.2_Silent_p.R374R|NCKIPSD_ENST00000341520.4_Silent_p.R381R	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain			11					TCACCTCCAGCCTCTGCTGGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000294129.2	1	1	hg19	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	8.256	0.810200	0.16537	.	.	ENSG00000213672	ENST00000415281	.	.	.	4.88	-1.47	0.08772	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44143	-0.9347	4	.	.	.	.	7.2578	0.26187	0.0:0.3798:0.117:0.5032	.	.	.	.	T	117	.	.	A	-	1	0	NCKIPSD	48692616	0.171000	0.23029	0.997000	0.53966	0.907000	0.53573	-0.391000	0.07323	-0.118000	0.11851	-0.244000	0.11960	GCT		TCGA-IB-7651-01A-11D-2154-08	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	1	0	0	49	169	0	45	1	9.999969e-01	10	59	0	45	2		0	0	0	0	0	2	1	1	49	166	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P4HTM	54681	broad.mit.edu	37	3	49042371	49042371	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042371G>A	ENST00000383729.4	+	6	1336	c.965G>A	c.(964-966)gGg>gAg	p.G322E	WDR6_ENST00000415265.2_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.G322E|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000608424.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)			21				Vitamin C(DB00126)	TATGGTGAGGGGGGCCACTAC	0.622000																								0							SO:0001583	missense			ENST00000383729.4	1	1	hg19	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606911	0.87157	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.69175	-0.38	5.29	4.41	0.53225	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.103605	0.64402	D	0.000003	D	0.83922	0.5359	M	0.90595	3.13	0.51482	D	0.999927	D;D	0.64830	0.966;0.994	P;D	0.67900	0.875;0.954	D	0.87471	0.2414	10	0.66056	D	0.02	-3.3372	15.3609	0.74472	0.0:0.0:0.8593:0.1406	.	322;322	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	E	322	ENSP00000373235:G322E	ENSP00000341422:G322E	G	+	2	0	P4HTM	49017375	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.430000	0.97488	1.231000	0.43661	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	1	0	1	99	433	0	113	1	1	44	95	0	113	2		0	0	0	0	0	2	1	1	75	340	0	85	2								-2.988658	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR6	11180	broad.mit.edu	37	3	49049361	49049361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49049361G>T	ENST00000608424.1	+	2	433	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.A162S|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S			Q9NNW5	WDR6_HUMAN	WD repeat domain 6			26					TATAGCCTTGGCCCTGGGCCA	0.582000																								0							SO:0001583	missense			ENST00000608424.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.72	2.621042	0.46736	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.77098	-0.06;-0.06;-1.07	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.055894	0.64402	D	0.000001	T	0.74543	0.3730	L	0.28115	0.83	0.37951	D	0.932645	D;P	0.53312	0.959;0.826	P;B	0.50109	0.631;0.341	T	0.75007	-0.3469	10	0.28530	T	0.3	-21.9638	18.0143	0.89233	0.0:0.0:1.0:0.0	.	132;81	Q9NNW5;E9PDU5	WDR6_HUMAN;.	S	162;164;132;81	ENSP00000378857:A162S;ENSP00000387692:A164S;ENSP00000413432:A81S	ENSP00000346247:A132S	A	+	1	0	WDR6	49024365	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	6.145000	0.71769	2.548000	0.85928	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1	1	0	1	61	275	0	74	1	1	55	129	0	74	2		0	0	0	0	0	2	1	1	61	273	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR6	11180	broad.mit.edu	37	3	49051698	49051698	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051698G>A	ENST00000608424.1	+	3	2677	c.2638G>A	c.(2638-2640)Gct>Act	p.A880T	WDR6_ENST00000415265.2_Missense_Mutation_p.A328T|WDR6_ENST00000395474.3_Missense_Mutation_p.A910T|WDR6_ENST00000448293.1_Missense_Mutation_p.A829T			Q9NNW5	WDR6_HUMAN	WD repeat domain 6			26					CCCCCTTGTGGCTGCAGCCTG	0.587000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000608424.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	36	5.657365	0.96724	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.74737	2.43;-0.87;-0.87	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050208	0.85682	D	0.000000	D	0.83626	0.5295	L	0.56769	1.78	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.942;0.984;0.995	T	0.79794	-0.1653	10	0.25106	T	0.35	-16.8242	18.5456	0.91045	0.0:0.0:1.0:0.0	.	328;880;829	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	T	910;328;829	ENSP00000378857:A910T;ENSP00000412195:A328T;ENSP00000413432:A829T	ENSP00000378857:A910T	A	+	1	0	WDR6	49026702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.130000	0.64745	2.626000	0.88956	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1	0	0	0	12	315	0	66	1	9.974997e-01	19	252	0	66	2		0	0	0	0	0	2	1	9.990588e-01	11	310	0	64	2								-12.760070	1	1	121412	2	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.450000	0.240000	1.000000	0.430000	0.490945	0.450000	0	3.300000e-01	6.200000e-01
NDUFAF3	25915	broad.mit.edu	37	3	49060138	49060138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060138G>A	ENST00000326925.6	+	3	1408	c.274G>A	c.(274-276)Gga>Aga	p.G92R	MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000440857.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3			8					TGCACAGGTGGGATCCCACCA	0.562000																								0							SO:0001583	missense			ENST00000326925.6	1	1	hg19	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876088	0.91664	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	L	0.36672	1.1	0.80722	D	1	D	0.54964	0.969	D	0.63597	0.916	T	0.76069	-0.3094	10	0.15952	T	0.53	-13.5357	18.9288	0.92556	0.0:0.0:1.0:0.0	.	92	Q9BU61	NDUF3_HUMAN	R	35;92;35;35	ENSP00000323003:G35R;ENSP00000323076:G92R;ENSP00000378843:G35R;ENSP00000402465:G35R	ENSP00000323003:G35R	G	+	1	0	NDUFAF3	49035142	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.230000	0.95299	2.567000	0.86603	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	1	0	0	88	1099	0	252	1	1	74	532	0	252	2		0	0	0	0	0	2	1	1	86	1083	0	246	2								-3.075755	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.880000	0.710000	1.000000	1.000000	0.884490	0.880000	1	7.900000e-01	9.900000e-01
NDUFAF3	25915	broad.mit.edu	37	3	49060385	49060385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060385C>T	ENST00000326925.6	+	4	1548	c.414C>T	c.(412-414)ggC>ggT	p.G138G	MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Silent_p.G81G|NDUFAF3_ENST00000451378.2_Silent_p.G81G|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000326912.4_Silent_p.G81G|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000440857.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3			8					GGCAGCGGGGCATTGCTGTGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000326925.6	1	1	hg19	CCDS2784.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	1	0	1	48	535	0	102	1	1	112	599	0	102	2		0	0	0	0	0	2	1	1	46	522	0	98	2								-12.974300	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.980000	0.730000	1.000000	1.000000	0.940895	0.980000	1	8.400000e-01	1
QRICH1	54870	broad.mit.edu	37	3	49084009	49084009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49084009C>T	ENST00000395443.2	-	5	1992	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1			25					CAGCAGTTGGCGCCCTGCAAC	0.512000																								0							SO:0001583	missense			ENST00000395443.2	1	1	hg19	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518919	0.96416	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78607	-0.2138	9	0.66056	D	0.02	-2.5307	20.1663	0.98152	0.0:1.0:0.0:0.0	.	507	Q2TAL8	QRIC1_HUMAN	H	507	.	ENSP00000350094:R507H	R	-	2	0	QRICH1	49059013	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.209000	0.77916	2.773000	0.95371	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	1	0	1	51	255	0	55	1	1	46	119	0	55	2		0	0	0	0	0	2	1	1	50	254	0	54	2								-2.955457	1	1	121408	1	26	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QRICH1	54870	broad.mit.edu	37	3	49094859	49094859	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49094859G>A	ENST00000395443.2	-	3	1246	c.774C>T	c.(772-774)taC>taT	p.Y258Y	QRICH1_ENST00000357496.2_Silent_p.Y258Y|QRICH1_ENST00000424300.1_Silent_p.Y258Y|QRICH1_ENST00000479449.1_Intron	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1			25					CTGAGATGGCGTAGGACACAG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000395443.2	1	1	hg19	CCDS2787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	1	0	0	70	373	0	84	1	1	34	142	0	84	2		0	0	0	0	0	2	1	1	70	366	0	82	2								-20.000000	1	1	121412	13	42	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP19	10869	broad.mit.edu	37	3	49147789	49147789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49147789C>T	ENST00000398888.2	-	25	3875	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000453664.1_Missense_Mutation_p.R1277H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19			38					ATCAAACAAGCGCCAGCCTAC	0.577000																								0							SO:0001583	missense			ENST00000398888.2	1	1	hg19	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238243	0.79800	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046862	0.85682	D	0.000000	T	0.45776	0.1359	N	0.25485	0.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.998;0.955	T	0.33574	-0.9863	10	0.45353	T	0.12	-17.718	19.7629	0.96329	0.0:1.0:0.0:0.0	.	1287;1277;1186;1226;994	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	H	994;1226;1289;1277;1226;1186;1287	ENSP00000381870:R994H;ENSP00000381872:R1226H;ENSP00000395260:R1289H;ENSP00000400090:R1277H;ENSP00000381867:R1226H;ENSP00000381863:R1186H;ENSP00000401197:R1287H	ENSP00000381863:R1186H	R	-	2	0	USP19	49122793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.476000	0.81055	2.666000	0.90696	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	1	0	1	55	265	0	66	1	1	34	114	0	66	2		0	0	0	0	0	2	1	1	54	259	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP19	10869	broad.mit.edu	37	3	49152269	49152269	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49152269C>T	ENST00000398888.2	-	14	2228	c.1910G>A	c.(1909-1911)aGg>aAg	p.R637K	USP19_ENST00000417901.1_Missense_Mutation_p.R740K|USP19_ENST00000453664.1_Missense_Mutation_p.R728K|USP19_ENST00000398896.1_Missense_Mutation_p.R445K|USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19			38					AGAGTCATTCCTCATCTTGTG	0.557000																								0							SO:0001583	missense			ENST00000398888.2	1	1	hg19	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	37	6.013981	0.97200	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.81	5.81	0.92471	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.81942	2.565	0.80722	D	1	D;D;D;P;D	0.61697	0.99;0.99;0.978;0.927;0.978	D;D;D;D;D	0.75484	0.986;0.986;0.978;0.953;0.978	T	0.63963	-0.6518	10	0.87932	D	0	-22.8041	20.0726	0.97729	0.0:1.0:0.0:0.0	.	738;728;637;677;445	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	K	445;677;740;728;677;637;738	ENSP00000381870:R445K;ENSP00000381872:R677K;ENSP00000395260:R740K;ENSP00000400090:R728K;ENSP00000381867:R677K;ENSP00000381863:R637K;ENSP00000401197:R738K	ENSP00000381863:R637K	R	-	2	0	USP19	49127273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.751000	0.85126	2.738000	0.93877	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	0	0	0	10	303	0	76	1	9.219014e-01	4	132	0	76	2		0	0	0	0	0	2	1	9.966941e-01	10	297	0	76	2								-3.024576	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.390000	0.200000	1.000000	0.370000	0.440118	0.390000	0	2.800000e-01	5.600000e-01
USP19	10869	broad.mit.edu	37	3	49153749	49153749	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49153749C>T	ENST00000398888.2	-	8	1334	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000453664.1_Missense_Mutation_p.G430E|USP19_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19			38					GGTGTGGGGCCCACAGCCCGG	0.627000																								0							SO:0001583	missense			ENST00000398888.2	1	1	hg19	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885364	0.72410	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	6.07	6.07	0.98685	Domain of unknown function DUF1872 (1);CS-like domain (1);HSP20-like chaperone (1);	0.098181	0.64402	D	0.000001	T	0.33789	0.0875	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.998;0.981	T	0.00312	-1.1826	10	0.56958	D	0.05	-32.7097	15.6958	0.77494	0.0:0.8637:0.1363:0.0	.	503;440;430;339;377;425;145	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	E	145;377;440;430;377;339;440;425;425	ENSP00000381870:G145E;ENSP00000381872:G377E;ENSP00000395260:G440E;ENSP00000400090:G430E;ENSP00000381867:G377E;ENSP00000381863:G339E;ENSP00000401197:G440E;ENSP00000303503:G425E	ENSP00000303503:G425E	G	-	2	0	USP19	49128753	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.380000	0.66202	2.884000	0.98904	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	1	0	1	50	230	0	53	1	9.999999e-01	35	81	0	53	2		0	0	0	0	0	2	1	1	50	226	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP19	10869	broad.mit.edu	37	3	49154234	49154234	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49154234C>A	ENST00000398888.2	-	6	1067	c.749G>T	c.(748-750)aGc>aTc	p.S250I	USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000453664.1_Missense_Mutation_p.S341I|USP19_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19			38					AGGGTTTCTGCTCCGGACCAT	0.587000																								0							SO:0001583	missense			ENST00000398888.2	1	1	hg19	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	2.613	-0.290237	0.05568	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T;T;T	0.32515	2.11;2.1;2.2;2.19;2.1;2.18;2.2;1.45	5.72	0.438	0.16560	Domain of unknown function DUF1872 (1);	1.260270	0.04631	N	0.403623	T	0.15782	0.0380	N	0.08118	0	0.20821	N	0.999842	B;B;B;B;B;B;B	0.28584	0.045;0.035;0.045;0.178;0.002;0.216;0.003	B;B;B;B;B;B;B	0.26969	0.075;0.055;0.075;0.037;0.008;0.072;0.005	T	0.21245	-1.0251	10	0.48119	T	0.1	-0.357	4.0236	0.09677	0.2608:0.4967:0.0:0.2425	.	414;351;341;250;288;336;56	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	I	56;288;351;341;288;250;351;336;336;98	ENSP00000381870:S56I;ENSP00000381872:S288I;ENSP00000395260:S351I;ENSP00000400090:S341I;ENSP00000381867:S288I;ENSP00000381863:S250I;ENSP00000401197:S351I;ENSP00000303503:S336I	ENSP00000303503:S336I	S	-	2	0	USP19	49129238	0.040000	0.19996	0.108000	0.21378	0.006000	0.05464	-0.227000	0.09126	-0.136000	0.11475	-0.145000	0.13849	AGC		TCGA-IB-7651-01A-11D-2154-08	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	1	0	0	14	250	0	54	1	9.698369e-01	6	101	0	54	2		0	0	0	0	0	2	1	9.997581e-01	14	247	0	54	2								-16.521010	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.640000	0.360000	1.000000	1.000000	0.672450	0.640000	0	4.900000e-01	8.600000e-01
LAMB2	3913	broad.mit.edu	37	3	49159704	49159704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49159704G>A	ENST00000418109.1	-	29	4837	c.4673C>T	c.(4672-4674)gCg>gTg	p.A1558V	LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398898.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)			61					CTCTGCAATCGCACCCGCCAG	0.607000																								0							SO:0001583	missense			ENST00000418109.1	1	1	hg19	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358164	0.41801	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.34859	1.34;1.34	5.27	-5.68	0.02436	.	0.294380	0.35525	N	0.003158	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.27700	0.186	B	0.21151	0.033	T	0.03545	-1.1026	10	0.66056	D	0.02	.	21.1267	0.99946	0.0:0.0:0.1172:0.8828	.	1558	P55268	LAMB2_HUMAN	V	1558;1558;325	ENSP00000388325:A1558V;ENSP00000307156:A1558V	ENSP00000307156:A1558V	A	-	2	0	LAMB2	49134708	0.637000	0.27216	0.000000	0.03702	0.679000	0.39708	1.191000	0.32138	-0.833000	0.04245	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	1	0	1	74	291	0	56	1	1	55	531	0	56	2		0	0	0	0	0	2	1	1	73	289	0	55	2								-3.386743	1	1	121410	2	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB2	3913	broad.mit.edu	37	3	49162549	49162549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49162549C>T	ENST00000418109.1	-	21	2938	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)			61					GGGACAGGGCCGGCACTGGCC	0.607000																								0							SO:0001583	missense			ENST00000418109.1	1	1	hg19	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147415	0.94603	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.62788	0.0;0.0	5.98	5.98	0.97165	EGF-like, laminin (2);	0.058682	0.64402	D	0.000002	T	0.70570	0.3239	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.64506	0.926	T	0.65236	-0.6217	10	0.31617	T	0.26	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	925	P55268	LAMB2_HUMAN	Q	925	ENSP00000388325:R925Q;ENSP00000307156:R925Q	ENSP00000307156:R925Q	R	-	2	0	LAMB2	49137553	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.031000	0.57267	2.847000	0.97988	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	1	0	1	68	275	0	59	1	1	81	415	0	59	2		0	0	0	0	0	2	1	1	66	267	0	58	2								-20.000000	1	1	121400	7	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB2	3913	broad.mit.edu	37	3	49167044	49167044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49167044C>T	ENST00000418109.1	-	12	1675	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)			61					CACCAGGCAGCGGTCACATCC	0.572000																								0							SO:0001583	missense			ENST00000418109.1	1	1	hg19	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045624	0.36085	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.64260	-0.09;-0.09	5.3	-3.26	0.05064	EGF-like, laminin (4);	0.497453	0.21653	N	0.071147	T	0.52419	0.1733	M	0.65975	2.015	0.36992	D	0.894853	B	0.11235	0.004	B	0.06405	0.002	T	0.30090	-0.9990	10	0.51188	T	0.08	.	8.3145	0.32091	0.1225:0.1971:0.0:0.6805	.	504	P55268	LAMB2_HUMAN	H	504	ENSP00000388325:R504H;ENSP00000307156:R504H	ENSP00000307156:R504H	R	-	2	0	LAMB2	49142048	0.889000	0.30405	0.449000	0.26957	0.681000	0.39784	0.853000	0.27777	-0.824000	0.04295	-0.345000	0.07892	CGC		TCGA-IB-7651-01A-11D-2154-08	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	1	0	1	40	182	0	43	1	1	41	238	0	43	2		0	0	0	0	0	2	1	1	39	177	0	43	2								-19.999610	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB2	3913	broad.mit.edu	37	3	49168875	49168875	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168875C>T	ENST00000418109.1	-	7	813	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	LAMB2_ENST00000305544.4_Splice_Site_p.V217I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)			61					CGATAGATGACCTGGAGAAGC	0.597000																								0							SO:0001630	splice_region_variant			ENST00000418109.1	0	1	hg19	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.326127	0.81580	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.76709	-1.04;-1.04;-1.04	4.88	4.88	0.63580	Laminin, N-terminal (3);	0.066361	0.64402	D	0.000017	D	0.82618	0.5076	L	0.49640	1.575	0.58432	D	0.999998	D	0.59357	0.985	P	0.60345	0.873	T	0.79065	-0.1956	10	0.23302	T	0.38	.	17.8259	0.88665	0.0:1.0:0.0:0.0	.	217	P55268	LAMB2_HUMAN	I	217;217;68	ENSP00000388325:V217I;ENSP00000307156:V217I;ENSP00000444751:V68I	ENSP00000307156:V217I	V	-	1	0	LAMB2	49143879	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.858000	0.69532	2.541000	0.85698	0.651000	0.88453	GTC		TCGA-IB-7651-01A-11D-2154-08	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	0	0	0	21	542	0	119	1	9.990780e-01	11	274	0	119	2		0	0	0	0	0	2	1	9.999970e-01	21	531	0	119	2								-19.241950	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.450000	0.280000	1.000000	0.440000	0.487240	0.450000	0	3.600000e-01	5.800000e-01
LAMB2	3913	broad.mit.edu	37	3	49168980	49168980	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168980G>T	ENST00000418109.1	-	6	800	c.636C>A	c.(634-636)tcC>tcA	p.S212S	LAMB2_ENST00000305544.4_Silent_p.S212S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)			61					CGCCTTCAGTGGATGGCTCAA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000418109.1	1	1	hg19	CCDS2789.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	0	0	1	205	1039	0	261	1	1	45	235	0	261	2		0	0	0	0	0	2	1	1	199	1016	0	259	2								-3.319150	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC36	339834	broad.mit.edu	37	3	49293689	49293689	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49293689C>T	ENST00000438782.1	+	8	995	c.759C>T	c.(757-759)gtC>gtT	p.V253V	CCDC36_ENST00000452691.2_Silent_p.V253V|CCDC36_ENST00000296449.5_Silent_p.V253V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36			14					TGCCCAGTGTCCTAGCAGAGC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000438782.1	1	1	hg19	CCDS33755.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	1	0	1	104	335	0	77	0	5.709976e-02	0	2	0	77	2		0	0	0	0	0	2	1	1	102	327	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP4	7375	broad.mit.edu	37	3	49332010	49332010	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49332010G>A	ENST00000265560.4	-	14	1759	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	USP4_ENST00000351842.4_Silent_p.S524S	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)			33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)			AGCCATCCACGGAAGTGCTGC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000265560.4	1	1	hg19	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	1.409	-0.575995	0.03882	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.41	-2.14	0.07123	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	-8.4843	1.608	0.02687	0.4586:0.119:0.2537:0.1686	.	.	.	.	C	310	.	.	R	-	1	0	USP4	49307014	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-0.785000	0.04628	-0.258000	0.09446	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	1	0	1	54	232	0	72	1	1	3	137	0	72	2		0	0	0	0	0	2	1	1	51	224	0	72	2								-3.146287	1	1	121412	2	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP4	7375	broad.mit.edu	37	3	49338072	49338072	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49338072A>G	ENST00000265560.4	-	11	1386	c.1340T>C	c.(1339-1341)aTt>aCt	p.I447T	USP4_ENST00000351842.4_Missense_Mutation_p.I400T|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)			33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)			AGTATCCACAATCACAGAATC	0.468000																								0							SO:0001583	missense			ENST00000265560.4	1	1	hg19	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690655	0.88735	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.38240	1.15;1.15	5.93	5.93	0.95920	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.77496	-0.2566	10	0.87932	D	0	-19.8798	15.2045	0.73169	1.0:0.0:0.0:0.0	.	400;447;447	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	T	400;447	ENSP00000341028:I400T;ENSP00000265560:I447T	ENSP00000265560:I447T	I	-	2	0	USP4	49313076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.283000	0.95860	2.261000	0.74972	0.459000	0.35465	ATT		TCGA-IB-7651-01A-11D-2154-08	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	1	0	1	55	216	0	81	1	1	3	110	0	81	2		0	0	0	0	0	2	1	1	55	205	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP4	7375	broad.mit.edu	37	3	49348051	49348051	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49348051A>G	ENST00000265560.4	-	8	1001		c.e8+1		USP4_ENST00000351842.4_Splice_Site|USP4_ENST00000488520.1_Splice_Site	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)			33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)			TCTCTCCTCTACCTGCAAAGC	0.507000																								0							SO:0001630	splice_region_variant			ENST00000265560.4	1	1	hg19	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869437	0.51588	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000431357	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3007	0.66346	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP4	49323055	1.000000	0.71417	0.992000	0.48379	0.384000	0.30261	9.100000	0.94213	2.059000	0.61396	0.402000	0.26972	.		TCGA-IB-7651-01A-11D-2154-08	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	0	0	1	66	326	1	91	1	3.396459e-01	7	0	1	91	2		0	0	0	0	0	2	1	1	65	322	1	91	15								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NICN1	84276	broad.mit.edu	37	3	49463818	49463818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49463818C>A	ENST00000273598.3	-	2	262	c.176G>T	c.(175-177)aGc>aTc	p.S59I	NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000436744.2_Missense_Mutation_p.S59I|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1			5					GACACGGATGCTCAAAAAAGC	0.517000																								0							SO:0001583	missense			ENST00000273598.3	1	1	hg19	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114469	0.37339	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.23754	1.89;1.89	5.08	2.15	0.27550	.	0.164124	0.51477	D	0.000081	T	0.23572	0.0570	L	0.38175	1.15	0.36469	D	0.867172	B;B	0.17038	0.02;0.02	B;B	0.23574	0.047;0.031	T	0.16958	-1.0385	10	0.72032	D	0.01	-33.9236	15.564	0.76273	0.0:0.3431:0.6568:0.0	.	59;59	B4DX77;Q9BSH3	.;NICN1_HUMAN	I	59	ENSP00000273598:S59I;ENSP00000402335:S59I	ENSP00000273598:S59I	S	-	2	0	NICN1	49438822	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.786000	0.38694	0.124000	0.18369	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	1	0	0	15	226	0	70	0	1.399984e-01	0	10	0	70	2		0	0	0	0	0	2	1	9.998585e-01	14	220	0	69	2								-18.384930	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.750000	0.440000	1.000000	1.000000	0.766309	0.750000	0	5.800000e-01	9.900000e-01
DAG1	1605	broad.mit.edu	37	3	49569067	49569067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49569067G>A	ENST00000539901.1	+	3	1681	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	DAG1_ENST00000541308.1_Missense_Mutation_p.A375T|DAG1_ENST00000538711.1_Missense_Mutation_p.A375T|DAG1_ENST00000545947.1_Missense_Mutation_p.A375T|DAG1_ENST00000308775.2_Missense_Mutation_p.A375T|DAG1_ENST00000515359.2_Missense_Mutation_p.A375T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)			23					GACTCGAGGCGCCATTATTCA	0.592000																								0							SO:0001583	missense			ENST00000539901.1	1	1	hg19	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651398	0.67472	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.74	5.74	0.90152	.	0.152399	0.64402	D	0.000014	T	0.34687	0.0906	L	0.29908	0.895	0.36969	D	0.893748	P	0.36909	0.573	B	0.26693	0.072	T	0.32241	-0.9914	9	.	.	.	-29.9484	18.6912	0.91583	0.0:0.0:1.0:0.0	.	375	Q14118	DAG1_HUMAN	T	375	ENSP00000440705:A375T;ENSP00000312435:A375T;ENSP00000442600:A375T;ENSP00000440590:A375T;ENSP00000439334:A375T;ENSP00000438421:A375T	.	A	+	1	0	DAG1	49544071	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.646000	0.46630	2.702000	0.92279	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1	1	0	1	146	564	0	157	1	1	241	432	0	157	2		0	0	0	0	0	2	1	1	143	554	0	155	2								-3.610519	1	1	121412	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BSN	8927	broad.mit.edu	37	3	49680444	49680444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680444G>A	ENST00000296452.4	+	3	1491	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein			106					AGACCATGCCGAAGGAAAGGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000296452.4	1	1	hg19	CCDS2800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	1	0	1	28	179	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	1	26	176	0	44	2								-20.000000	1	1	121410	5	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999540	0.990000	1	9.900000e-01	1
BSN	8927	broad.mit.edu	37	3	49690192	49690192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690192G>A	ENST00000296452.4	+	5	3317	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein			106					CAGCGCATCCGCAGCACGGCC	0.647000																								0							SO:0001583	missense			ENST00000296452.4	1	1	hg19	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536312	0.45176	.	.	ENSG00000164061	ENST00000296452	T	0.23754	1.89	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	M	0.66939	2.045	0.37678	D	0.923388	D	0.89917	1.0	D	0.68621	0.959	T	0.56613	-0.7950	10	0.66056	D	0.02	.	15.2326	0.73404	0.0:0.1407:0.8593:0.0	.	1068	Q9UPA5	BSN_HUMAN	H	1068	ENSP00000296452:R1068H	ENSP00000296452:R1068H	R	+	2	0	BSN	49665196	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.773000	0.75006	2.357000	0.79964	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	1	0	1	56	249	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	55	242	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BSN	8927	broad.mit.edu	37	3	49690580	49690580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690580G>A	ENST00000296452.4	+	5	3705	c.3591G>A	c.(3589-3591)ctG>ctA	p.L1197L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein			106					AAGCTGAGCTGCTCCAGAGGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000296452.4	0	1	hg19	CCDS2800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	0	0	0	7	202	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.794234e-01	7	197	0	42	2								-9.275877	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.420000	0.180000	1.000000	0.390000	0.469798	0.420000	0	2.800000e-01	6.300000e-01
BSN	8927	broad.mit.edu	37	3	49692063	49692063	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49692063G>A	ENST00000296452.4	+	5	5188	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein			106					TCTTGCTGTGGAAGCGAGGAA	0.587000																								0							SO:0001583	missense			ENST00000296452.4	1	1	hg19	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602687	0.66445	.	.	ENSG00000164061	ENST00000296452	T	0.24350	1.86	5.16	5.16	0.70880	.	0.051936	0.85682	D	0.000000	T	0.49355	0.1552	M	0.64997	1.995	0.58432	D	0.999999	D	0.76494	0.999	D	0.69654	0.965	T	0.47812	-0.9088	10	0.54805	T	0.06	.	18.6541	0.91441	0.0:0.0:1.0:0.0	.	1692	Q9UPA5	BSN_HUMAN	K	1692	ENSP00000296452:E1692K	ENSP00000296452:E1692K	E	+	1	0	BSN	49667067	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.420000	0.82092	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	1	0	1	98	352	0	85	0	0	0	1	0	85	2		0	0	0	0	0	2	1	1	96	345	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BSN	8927	broad.mit.edu	37	3	49693296	49693296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49693296G>A	ENST00000296452.4	+	5	6421	c.6307G>A	c.(6307-6309)Gct>Act	p.A2103T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein			106					TCGCATGTGCGCTGCCCTCAA	0.652000																								0							SO:0001583	missense			ENST00000296452.4	0	1	hg19	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031034	0.54790	.	.	ENSG00000164061	ENST00000296452	T	0.33865	1.39	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.59500	-0.7443	10	0.52906	T	0.07	-8.7787	19.3268	0.94265	0.0:0.0:1.0:0.0	.	2103	Q9UPA5	BSN_HUMAN	T	2103	ENSP00000296452:A2103T	ENSP00000296452:A2103T	A	+	1	0	BSN	49668300	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.855000	0.86950	2.561000	0.86390	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	0	0	0	18	382	1	71	0	0	0	1	1	71	2		0	0	0	0	0	2	0	4.717158e-01	17	375	1	68	19								-18.282180	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.540000	0.330000	1.000000	0.520000	0.577649	0.540000	0	4.200000e-01	7.100000e-01
APEH	327	broad.mit.edu	37	3	49714060	49714060	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49714060G>A	ENST00000296456.5	+	8	1163	c.763G>A	c.(763-765)Gat>Aat	p.D255N	APEH_ENST00000438011.1_Missense_Mutation_p.D255N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase			15					GGCCCCTGGAGATGCTGGTGT	0.607000																								0							SO:0001583	missense			ENST00000296456.5	1	1	hg19	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716078	0.89205	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T;T;T	0.42513	1.0;1.0;0.97;1.0;1.0	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.041945	0.85682	D	0.000000	T	0.57403	0.2051	L	0.58969	1.84	0.80722	D	1	D;P	0.59357	0.985;0.896	P;B	0.56088	0.791;0.334	T	0.56523	-0.7965	10	0.51188	T	0.08	-18.567	19.4536	0.94878	0.0:0.0:1.0:0.0	.	255;255	C9JIF9;P13798	.;ACPH_HUMAN	N	255;154;180;255;206	ENSP00000296456:D255N;ENSP00000414369:D154N;ENSP00000402365:D180N;ENSP00000415862:D255N;ENSP00000410366:D206N	ENSP00000296456:D255N	D	+	1	0	APEH	49689064	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.420000	0.97426	2.618000	0.88619	0.585000	0.79938	GAT		TCGA-IB-7651-01A-11D-2154-08	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2	1	0	1	54	194	0	31	1	1	176	258	0	31	2		0	0	0	0	0	2	1	1	53	188	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF123	63891	broad.mit.edu	37	3	49735349	49735349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735349G>A	ENST00000327697.6	+	6	518	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					GGCACCATCCGCTCTACCACA	0.552000																								0							SO:0001583	missense			ENST00000327697.6	1	1	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133591	0.94517	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.64260	-0.09	5.95	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.163697	0.41712	D	0.000839	D	0.82797	0.5115	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.87548	0.2463	10	0.87932	D	0	-26.426	14.3226	0.66496	0.0706:0.0:0.9294:0.0	.	125	Q5XPI4	RN123_HUMAN	H	125	ENSP00000328287:R125H	ENSP00000328287:R125H	R	+	2	0	RNF123	49710353	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.235000	0.78143	1.536000	0.49237	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	0	0	1	284	1180	1	357	1	9.998253e-01	17	36	1	357	2		0	0	0	0	0	2	1	1	279	1154	1	354	15								-20.000000	1	1	121412	1	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF123	63891	broad.mit.edu	37	3	49740132	49740132	+	Missense_Mutation	SNP	C	C	T	rs146532174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49740132C>T	ENST00000327697.6	+	20	1840	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					CTCTGCCCTGCGCTACTATTG	0.562000																								0							SO:0001583	missense			ENST00000327697.6	1	1	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105078	0.77096	2.27E-4	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.79352	-0.93;-1.26	5.2	3.19	0.36642	.	0.000000	0.64402	D	0.000017	T	0.80082	0.4558	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	T	0.81854	-0.0741	10	0.87932	D	0	-24.0101	12.4462	0.55651	0.3556:0.6444:0.0:0.0	.	420;566	C9J266;Q5XPI4	.;RN123_HUMAN	C	566;566;420	ENSP00000328287:R566C;ENSP00000392443:R420C	ENSP00000328287:R566C	R	+	1	0	RNF123	49715136	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.330000	0.33781	2.441000	0.82636	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1	159	1430	0	297	1	9.878132e-01	6	56	0	297	2		0	0	0	0	0	2	1	1	156	1405	0	295	2								-20.000000	1	1	121412	6	45	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999606	0.990000	1	9.900000e-01	1
RNF123	63891	broad.mit.edu	37	3	49742976	49742976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49742976G>T	ENST00000327697.6	+	24	2312	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					GTTGAAGGCAGCCACTGGAAT	0.642000																								0							SO:0001583	missense			ENST00000327697.6	1	1	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196140	0.38806	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.77098	-0.75;-1.07	5.46	2.71	0.32032	.	0.382752	0.28933	N	0.013663	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P;B	0.41265	0.744;0.089	B;B	0.34038	0.174;0.037	T	0.49011	-0.8983	10	0.40728	T	0.16	-13.4445	5.2758	0.15649	0.3055:0.1404:0.5541:0.0	.	577;723	C9J266;Q5XPI4	.;RN123_HUMAN	I	723;723;577	ENSP00000328287:S723I;ENSP00000392443:S577I	ENSP00000328287:S723I	S	+	2	0	RNF123	49717980	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.783000	0.47766	0.678000	0.31325	-0.258000	0.10820	AGC		TCGA-IB-7651-01A-11D-2154-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1	48	219	0	47	1	9.972627e-01	8	36	0	47	2		0	0	0	0	0	2	1	1	47	214	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF123	63891	broad.mit.edu	37	3	49749963	49749963	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49749963G>A	ENST00000327697.6	+	27	2692	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	RNF123_ENST00000432042.1_Missense_Mutation_p.E704K|RNF123_ENST00000433785.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					GCGGACCATTGAGCACGGTGA	0.582000																								0							SO:0001583	missense			ENST00000327697.6	1	1	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457635	0.84317	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.75704	-0.66;-0.96	5.91	5.91	0.95273	.	0.047408	0.85682	D	0.000000	T	0.80829	0.4698	L	0.38531	1.155	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.75861	-0.3168	10	0.25106	T	0.35	-31.0211	19.2739	0.94023	0.0:0.0:1.0:0.0	.	704;850	C9J266;Q5XPI4	.;RN123_HUMAN	K	850;850;704	ENSP00000328287:E850K;ENSP00000392443:E704K	ENSP00000328287:E850K	E	+	1	0	RNF123	49724967	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	9.298000	0.96132	2.803000	0.96430	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1	59	231	0	56	1	9.999686e-01	13	50	0	56	2		0	0	0	0	0	2	1	1	59	222	0	55	2								-3.599724	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF123	63891	broad.mit.edu	37	3	49753080	49753080	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753080G>T	ENST00000327697.6	+	32	3227	c.3083G>T	c.(3082-3084)aGc>aTc	p.S1028I	RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					GTGGCACCCAGCTTCCTCAAC	0.612000																								0							SO:0001583	missense			ENST00000327697.6	1	1	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299999	0.81136	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.63744	-0.06;-0.06	5.69	5.69	0.88448	.	0.082938	0.85682	D	0.000000	T	0.78342	0.4268	M	0.68952	2.095	0.54753	D	0.999988	D	0.71674	0.998	D	0.75484	0.986	T	0.76966	-0.2763	10	0.45353	T	0.12	-32.0057	18.7944	0.91988	0.0:0.0:1.0:0.0	.	1028	Q5XPI4	RN123_HUMAN	I	1028;1028;140	ENSP00000328287:S1028I;ENSP00000416156:S140I	ENSP00000328287:S1028I	S	+	2	0	RNF123	49728084	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.996000	0.76263	2.679000	0.91253	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1	47	214	0	47	1	9.999831e-01	18	60	0	47	2		0	0	0	0	0	2	1	1	46	210	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF123	63891	broad.mit.edu	37	3	49753586	49753586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753586C>T	ENST00000327697.6	+	34	3535	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					CCTGTTTGATCGTGTGGTCAC	0.582000																								0							SO:0001583	missense			ENST00000327697.6	1	1	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936114	0.73442	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.73152	-0.72	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74665	-0.3589	10	0.41790	T	0.15	-12.8022	13.0939	0.59180	0.2497:0.7503:0.0:0.0	.	1131	Q5XPI4	RN123_HUMAN	C	1131;1131;243	ENSP00000328287:R1131C	ENSP00000328287:R1131C	R	+	1	0	RNF123	49728590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.451000	0.35145	2.884000	0.98904	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1	26	120	0	32	1	9.999628e-01	22	58	0	32	2		0	0	0	0	0	2	1	1	25	118	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
RNF123	63891	broad.mit.edu	37	3	49753836	49753836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753836C>T	ENST00000327697.6	+	35	3570	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_ENST00000433785.1_Silent_p.S254S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					GCCTAGAGAGCGTGGACCACT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000327697.6	1	1	hg19	CCDS33758.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	0	267	1291	0	344	1	9.999677e-01	18	52	0	344	2		0	0	0	0	0	2	1	1	260	1270	0	341	2								-20.000000	1	1	121410	4	43	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF123	63891	broad.mit.edu	37	3	49757969	49757969	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49757969C>A	ENST00000327697.6	+	36	3670	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M	GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000535833.1_De_novo_Start_OutOfFrame|RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|AMIGO3_ENST00000320431.7_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123			38					ATCAGTGCTCCTGGCAGATCC	0.597000																								0							SO:0001583	missense			ENST00000327697.6	1	0	hg19	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331587	0.60853	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.76448	-1.02	4.97	3.03	0.35002	.	0.000000	0.64402	D	0.000008	D	0.82379	0.5024	L	0.55990	1.75	0.47183	D	0.999348	D	0.71674	0.998	D	0.80764	0.994	T	0.82000	-0.0674	10	0.62326	D	0.03	-13.6696	8.1277	0.31008	0.0:0.735:0.0:0.265	.	1176	Q5XPI4	RN123_HUMAN	M	1176;1176;288	ENSP00000328287:L1176M	ENSP00000328287:L1176M	L	+	1	2	RNF123	49732973	0.922000	0.31269	1.000000	0.80357	0.969000	0.65631	1.594000	0.36697	1.331000	0.45412	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	1	0	1	58	240	0	68	1	1	31	107	0	68	2		0	0	0	0	0	2	1	1	56	235	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IP6K1	9807	broad.mit.edu	37	3	49764895	49764895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49764895C>T	ENST00000321599.4	-	6	1287	c.986G>A	c.(985-987)cGc>cAc	p.R329H	IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H|IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1			15					GGAGTAGAAGCGGTAAGAGGC	0.592000																								0							SO:0001583	missense			ENST00000321599.4	1	1	hg19	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420960	0.96111	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.16324	2.35;2.35;2.35	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12066	-1.0562	10	0.54805	T	0.06	-24.2595	20.0953	0.97838	0.0:1.0:0.0:0.0	.	329	Q92551	IP6K1_HUMAN	H	329;164;164	ENSP00000323780:R329H;ENSP00000378659:R164H;ENSP00000420762:R164H	ENSP00000323780:R329H	R	-	2	0	IP6K1	49739899	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	1	0	1	60	273	0	71	1	9.999996e-01	34	66	0	71	2		0	0	0	0	0	2	1	1	60	269	0	70	2								-3.170149	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBA7	7318	broad.mit.edu	37	3	49845353	49845353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49845353C>T	ENST00000333486.3	-	21	2689	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7			33					GCCCACAATTCGCTTGCTCTG	0.612000																								0							SO:0001583	missense			ENST00000333486.3	1	1	hg19	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	5.302	0.241135	0.10077	.	.	ENSG00000182179	ENST00000333486	T	0.38401	1.14	4.95	-3.92	0.04155	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.538297	0.19794	N	0.105901	T	0.14056	0.0340	N	0.12569	0.235	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.10823	-1.0613	10	0.27082	T	0.32	0.055	4.8416	0.13492	0.2254:0.3499:0.0:0.4248	.	844	P41226	UBA7_HUMAN	Q	844	ENSP00000333266:R844Q	ENSP00000333266:R844Q	R	-	2	0	UBA7	49820357	0.009000	0.17119	0.003000	0.11579	0.278000	0.26855	-0.110000	0.10824	-0.715000	0.04968	-0.268000	0.10319	CGA		TCGA-IB-7651-01A-11D-2154-08	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1	46	169	0	50	1	1	55	182	0	50	2		0	0	0	0	0	2	1	1	46	163	0	50	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBA7	7318	broad.mit.edu	37	3	49847012	49847012	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847012C>A	ENST00000333486.3	-	16	2209	c.2051G>T	c.(2050-2052)gGc>gTc	p.G684V	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7			33					CTGTTTGATGCCATAATGAAA	0.567000																								0							SO:0001583	missense			ENST00000333486.3	1	1	hg19	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984739	0.35036	.	.	ENSG00000182179	ENST00000333486	T	0.62788	-0.0	5.92	4.0	0.46444	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.745824	0.14247	N	0.331665	T	0.52008	0.1708	L	0.50333	1.59	0.46279	D	0.998968	B	0.19706	0.038	B	0.23275	0.045	T	0.42310	-0.9459	10	0.31617	T	0.26	-2.5993	4.8671	0.13613	0.0:0.5587:0.1533:0.2879	.	684	P41226	UBA7_HUMAN	V	684	ENSP00000333266:G684V	ENSP00000333266:G684V	G	-	2	0	UBA7	49822016	0.116000	0.22171	0.522000	0.27862	0.938000	0.57974	0.364000	0.20325	0.694000	0.31654	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1	201	888	0	242	1	1	34	158	0	242	2		0	0	0	0	0	2	1	1	198	873	0	241	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBA7	7318	broad.mit.edu	37	3	49847305	49847305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847305C>T	ENST00000333486.3	-	15	2005	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7			33					AAACTCATGCCGGGCCCACTG	0.582000																								0							SO:0001583	missense			ENST00000333486.3	1	1	hg19	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510430	0.85389	.	.	ENSG00000182179	ENST00000333486	T	0.48522	0.81	6.07	-0.683	0.11335	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.301816	0.35525	N	0.003148	T	0.46054	0.1373	L	0.60012	1.86	0.48288	D	0.999623	D	0.59357	0.985	P	0.54499	0.754	T	0.44982	-0.9292	10	0.62326	D	0.03	-12.0257	1.5695	0.02612	0.2615:0.432:0.1277:0.1789	.	616	P41226	UBA7_HUMAN	Q	616	ENSP00000333266:R616Q	ENSP00000333266:R616Q	R	-	2	0	UBA7	49822309	0.565000	0.26610	0.100000	0.21137	0.938000	0.57974	1.465000	0.35299	0.201000	0.20466	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1	68	525	0	147	1	9.999844e-01	17	106	0	147	2		0	0	0	0	0	2	1	1	66	515	0	146	2								-3.017764	1	1	121412	6	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999783	0.990000	1	9.900000e-01	1
UBA7	7318	broad.mit.edu	37	3	49850508	49850508	+	Missense_Mutation	SNP	G	G	A	rs148849452	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49850508G>A	ENST00000333486.3	-	4	612	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7			33					ACGAGGCCCCGGGTGTCAGCC	0.602000																								0							SO:0001583	missense			ENST00000333486.3	1	1	hg19	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943843	0.18281	2.27E-4	0.0	ENSG00000182179	ENST00000333486	T	0.37058	1.22	5.04	2.09	0.27110	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.323101	0.31949	N	0.006812	T	0.25269	0.0614	L	0.50333	1.59	0.49798	D	0.999828	B	0.32507	0.373	B	0.25614	0.062	T	0.06499	-1.0823	10	0.51188	T	0.08	-17.4254	4.8768	0.13660	0.1784:0.0:0.5355:0.2861	.	152	P41226	UBA7_HUMAN	W	152	ENSP00000333266:R152W	ENSP00000333266:R152W	R	-	1	2	UBA7	49825512	0.003000	0.15002	0.964000	0.40570	0.036000	0.12997	0.691000	0.25467	0.648000	0.30732	-0.448000	0.05591	CGG		TCGA-IB-7651-01A-11D-2154-08	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	1	0	1	31	169	0	44	1	9.999896e-01	12	90	0	44	2		0	0	0	0	0	2	1	1	30	167	0	44	2								-2.868172	1	1	121412	2	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
TRAIP	10293	broad.mit.edu	37	3	49885589	49885589	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49885589T>C	ENST00000331456.2	-	2	256	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein			24					GATTCGGCACTGTGGGCAGGT	0.488000																								0							SO:0001583	missense			ENST00000331456.2	1	1	hg19	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664004	0.67700	.	.	ENSG00000183763	ENST00000331456;ENST00000469027;ENST00000482582;ENST00000482243	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.67397	2.05	0.48452	D	0.99965	D;D;D	0.76494	0.984;0.999;0.999	D;D;D	0.83275	0.932;0.996;0.979	T	0.58261	-0.7667	10	0.26408	T	0.33	-18.7394	15.0639	0.71977	0.0:0.0:0.0:1.0	.	48;48;48	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	R	48	ENSP00000328203:Q48R;ENSP00000420085:Q48R;ENSP00000418544:Q48R;ENSP00000419350:Q48R	ENSP00000328203:Q48R	Q	-	2	0	TRAIP	49860593	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.837000	0.75354	2.152000	0.67230	0.533000	0.62120	CAG		TCGA-IB-7651-01A-11D-2154-08	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	1	0	1	44	146	0	35	0	5.884750e-01	1	7	0	35	2		0	0	0	0	0	2	1	1	43	142	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MST1R	4486	broad.mit.edu	37	3	49924980	49924980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49924980C>T	ENST00000296474.3	-	20	3990	c.3963G>A	c.(3961-3963)caG>caA	p.Q1321Q	MST1R_ENST00000344206.4_Silent_p.Q1272Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)			37					CCCAGCATTGCTGCATCACTT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000296474.3	1	1	hg19	CCDS2807.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	0	0	0	13	373	0	75	1	9.854023e-01	7	197	0	75	2		0	0	0	0	0	2	1	9.994860e-01	13	365	0	75	2								-12.683980	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.410000	0.220000	1.000000	0.390000	0.454052	0.410000	0	3.100000e-01	5.600000e-01
MST1R	4486	broad.mit.edu	37	3	49929221	49929221	+	Nonsense_Mutation	SNP	G	G	A	rs150876558	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49929221G>A	ENST00000296474.3	-	15	3349	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)			37					CATTGGATTCGATTCTGGGCC	0.532000																								0							SO:0001587	stop_gained			ENST00000296474.3	0	1	hg19	CCDS2807.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	38	7.213134	0.98139	2.27E-4	3.49E-4	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	5.48	4.6	0.57074	.	0.783895	0.12392	N	0.472947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.1745	4.2179	0.10544	0.0832:0.2301:0.5395:0.1471	.	.	.	.	X	1108;1059	.	ENSP00000296474:R1108X	R	-	1	2	MST1R	49904225	0.869000	0.29996	0.798000	0.32154	0.961000	0.63080	2.280000	0.43443	2.617000	0.88574	0.632000	0.83419	CGA		TCGA-IB-7651-01A-11D-2154-08	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1	157	655	0	149	1	1	38	133	0	149	2		0	0	0	0	0	2	1	1	155	645	0	148	2								-20.000000	1	1	121412	12	47	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MST1R	4486	broad.mit.edu	37	3	49934771	49934771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49934771G>A	ENST00000296474.3	-	7	2152	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	MST1R_ENST00000344206.4_Silent_p.L709L|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)			37					CCTACAGACAGACTCTGGCCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000296474.3	1	1	hg19	CCDS2807.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	0	62	310	0	81	1	9.999999e-01	77	45	0	81	2		0	0	0	0	0	2	1	1	60	309	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MST1R	4486	broad.mit.edu	37	3	49940299	49940299	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940299T>C	ENST00000296474.3	-	1	771	c.744A>G	c.(742-744)gaA>gaG	p.E248E	MST1R_ENST00000344206.4_Silent_p.E248E|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)			37					TGTGCACGTATTCAATACTGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000296474.3	1	1	hg19	CCDS2807.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1	55	267	0	81	1	9.999885e-01	15	69	0	81	2		0	0	0	0	0	2	1	1	54	261	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MST1R	4486	broad.mit.edu	37	3	49940700	49940700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940700G>A	ENST00000296474.3	-	1	370	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	MST1R_ENST00000344206.4_Missense_Mutation_p.P115S|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)			37					GTGTCACCGGGAGGGCCGTGG	0.677000																								0							SO:0001583	missense			ENST00000296474.3	1	1	hg19	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278775	0.05679	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10573	2.86;2.86	4.96	-0.793	0.10922	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.970223	0.08471	N	0.940952	T	0.09024	0.0223	L	0.31578	0.945	0.09310	N	1	B;B;B;B;B	0.31910	0.199;0.008;0.346;0.02;0.001	B;B;B;B;B	0.36244	0.098;0.011;0.22;0.045;0.011	T	0.44982	-0.9292	10	0.23891	T	0.37	-7.214	9.4743	0.38862	0.1899:0.3107:0.4994:0.0	.	115;115;115;115;115	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	S	115	ENSP00000296474:P115S;ENSP00000341325:P115S	ENSP00000296474:P115S	P	-	1	0	MST1R	49915704	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.556000	0.23438	-0.120000	0.11809	-1.598000	0.00824	CCC		TCGA-IB-7651-01A-11D-2154-08	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1	30	558	0	112	1	9.420070e-01	10	80	0	112	2		0	0	0	0	0	2	1	1	29	547	0	110	2								-3.076027	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.610000	0.410000	1.000000	0.600000	0.638166	0.610000	0	5.000000e-01	7.500000e-01
SEMA3F	6405	broad.mit.edu	37	3	50222947	50222947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50222947G>A	ENST00000002829.3	+	14	2012	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F			17					CATGCTGGAGGAGGTGGAGGT	0.627000																								0							SO:0001583	missense			ENST00000002829.3	1	1	hg19	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213343	0.79352	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.29917	1.55;1.55;1.55	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.043661	0.85682	D	0.000000	T	0.51193	0.1660	H	0.96547	3.84	0.58432	D	0.999998	P;B	0.36660	0.564;0.148	B;B	0.35688	0.208;0.133	T	0.68051	-0.5511	10	0.87932	D	0	.	17.0521	0.86521	0.0:0.0:1.0:0.0	.	479;510	C9JQ85;Q13275	.;SEM3F_HUMAN	K	411;510;479	ENSP00000388931:E411K;ENSP00000002829:E510K;ENSP00000409859:E479K	ENSP00000002829:E510K	E	+	1	0	SEMA3F	50197951	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.395000	0.97266	2.575000	0.86900	0.448000	0.29417	GAG		TCGA-IB-7651-01A-11D-2154-08	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	1	0	1	28	122	0	40	1	9.999779e-01	6	73	0	40	2		0	0	0	0	0	2	1	1	28	120	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
GNAT1	2779	broad.mit.edu	37	3	50230697	50230697	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50230697G>T	ENST00000433068.1	+	3	205		c.e3-1		GNAT1_ENST00000232461.3_Splice_Site	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1			17					CTCGGCCTCAGGATTATCCAC	0.612000											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000433068.1	1	1	hg19	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043107	0.75732	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNAT1	50205701	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	9.668000	0.98619	2.573000	0.86826	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	1	0	1	70	354	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	69	347	0	113	2								-3.159081	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BHLHE40	8553	broad.mit.edu	37	3	5025367	5025367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5025367C>T	ENST00000256495.3	+	5	1832	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40			12					AACTTAGAAACCAAAGACTAA	0.468000																								0							SO:0001583	missense			ENST00000256495.3	1	1	hg19	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800971	0.90538	.	.	ENSG00000134107	ENST00000256495	T	0.49432	0.78	5.51	5.51	0.81932	.	0.097328	0.64402	D	0.000001	T	0.57286	0.2043	M	0.63843	1.955	0.80722	D	1	P	0.52061	0.95	P	0.48840	0.592	T	0.61926	-0.6962	10	0.72032	D	0.01	.	19.0124	0.92879	0.0:1.0:0.0:0.0	.	410	O14503	BHE40_HUMAN	I	410	ENSP00000256495:T410I	ENSP00000256495:T410I	T	+	2	0	BHLHE40	5000367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.286000	0.78671	2.589000	0.87451	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	1	0	1	109	504	0	132	1	1	187	593	0	132	2		0	0	0	0	0	2	1	1	100	478	0	131	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A3	10991	broad.mit.edu	37	3	50255260	50255260	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50255260G>A	ENST00000420502.1	+	0	996									solute carrier family 38, member 3			6					GCTACTTCACGCTCAACTCAC	0.592000																								0											ENST00000420502.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	0	0	0	93	356	0	106	0	7.444928e-01	0	12	0	106	2		0	0	0	0	0	2	1	1	92	348	0	105	2								-3.694968	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNAI2	2771	broad.mit.edu	37	3	50290492	50290492	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50290492G>A	ENST00000313601.6	+	4	724	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	p.A114T(2)		16					GTCCTGCACCGCCGAGGAGCA	0.637000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000313601.6	1	1	hg19	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180559	0.78677	0.0	1.16E-4	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.34	5.34	0.76211	G protein alpha subunit, helical insertion (2);	0.049801	0.85682	D	0.000000	T	0.81758	0.4890	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.74884	-0.3512	10	0.29301	T	0.29	.	17.3557	0.87335	0.0:0.0:1.0:0.0	.	77;114;98;98	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	T	98;114;33;114;62;77;98	ENSP00000406871:A98T;ENSP00000312999:A114T;ENSP00000444360:A33T;ENSP00000395736:A62T;ENSP00000406369:A77T;ENSP00000266027:A98T	ENSP00000266027:A98T	A	+	1	0	GNAI2	50265496	1.000000	0.71417	0.768000	0.31515	0.949000	0.60115	6.693000	0.74582	2.884000	0.98904	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	1	0	1	135	764	0	171	1	1	165	1142	0	171	2		0	0	0	0	0	2	1	1	133	755	0	169	2								-20.000000	1	1	121408	5	43	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA3B	7869	broad.mit.edu	37	3	50313010	50313010	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50313010G>A	ENST00000418948.1	+	0	1903							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B			6					GCGGCAAGACGTAAGGAATGG	0.662000																								0											ENST00000418948.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.40	1.628796	0.28978	.	.	ENSG00000012171	ENST00000316347	.	.	.	4.78	-0.282	0.12878	.	0.193005	0.44285	N	0.000473	T	0.24314	0.0589	.	.	.	.	.	.	B;B;B;B	0.18166	0.018;0.026;0.018;0.012	B;B;B;B	0.23150	0.011;0.044;0.011;0.012	T	0.35201	-0.9798	7	0.08837	T	0.75	.	8.4845	0.33063	0.4372:0.0:0.5628:0.0	.	556;306;556;557	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	I	556	.	ENSP00000446262:V556I	V	+	1	0	SEMA3B	50288014	0.465000	0.25815	0.103000	0.21229	0.987000	0.75469	0.713000	0.25794	-0.291000	0.09012	0.514000	0.50259	GTA		TCGA-IB-7651-01A-11D-2154-08	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	0	0	0	90	494	0	121	1	1	73	92	0	121	2		0	0	0	0	0	2	1	1	90	488	0	120	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL3_ENST00000415204.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|NAT6_ENST00000354862.4_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1			11					ATGCTCTTCCGCTCACACCAC	0.552000																								0							SO:0001583	missense			ENST00000266031.4	1	1	hg19	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551292	0.65311	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.31769	2.22;2.22;2.22;1.89;1.48;1.48	5.26	0.865	0.19074	.	0.616045	0.12080	U	0.501421	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	D;D	0.58970	0.979;0.984	B;B	0.43123	0.409;0.061	T	0.17077	-1.0381	10	0.87932	D	0	-0.7613	12.6533	0.56774	0.0:0.0:0.422:0.578	.	401;431	Q12794-2;Q12794	.;HYAL1_HUMAN	W	431;431;431;401;249;172	ENSP00000378576:R431W;ENSP00000266031:R431W;ENSP00000346068:R431W;ENSP00000378575:R401W;ENSP00000393358:R249W;ENSP00000390149:R172W	ENSP00000266031:R431W	R	-	1	2	HYAL1	50312935	0.135000	0.22499	0.153000	0.22517	0.213000	0.24496	0.949000	0.29109	0.142000	0.18901	0.313000	0.20887	CGG		TCGA-IB-7651-01A-11D-2154-08	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1	0	0	1	14	386	0	101	1	9.754521e-01	27	144	0	101	2		0	0	0	0	0	2	1	9.997289e-01	14	378	0	100	2								-3.307751	1	1	121412	4	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.430000	0.240000	1.000000	0.410000	0.467818	0.430000	0	3.200000e-01	5.800000e-01
HYAL1	3373	broad.mit.edu	37	3	50339672	50339672	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50339672C>A	ENST00000266031.4	-	1	1331	c.716G>T	c.(715-717)aGc>aTc	p.S239I	NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|NAT6_ENST00000354862.4_5'Flank|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1			11					GAGGGCACGGCTCTGGCCCCA	0.587000																								0							SO:0001583	missense			ENST00000266031.4	1	1	hg19	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464857	0.63513	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.079607	0.85682	D	0.000000	T	0.67325	0.2881	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76680	-0.2870	10	0.87932	D	0	-32.4736	17.8882	0.88863	0.0:1.0:0.0:0.0	.	239;239;239	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	I	239;239;239;239;57	ENSP00000378576:S239I;ENSP00000266031:S239I;ENSP00000346068:S239I;ENSP00000378575:S239I;ENSP00000393358:S57I	ENSP00000266031:S239I	S	-	2	0	HYAL1	50314676	1.000000	0.71417	0.894000	0.35097	0.412000	0.31113	3.976000	0.56867	2.585000	0.87301	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1	1	0	1	21	237	0	51	1	9.983945e-01	22	96	0	51	2		0	0	0	0	0	2	1	7.895325e-01	20	236	1	50	17								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.980000	0.620000	1.000000	1.000000	0.916386	0.980000	1	7.800000e-01	1
HYAL2	8692	broad.mit.edu	37	3	50357048	50357048	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50357048G>A	ENST00000447092.1	-	1	3165	c.873C>T	c.(871-873)taC>taT	p.Y291Y	HYAL2_ENST00000395139.3_Silent_p.Y291Y|HYAL2_ENST00000357750.4_Silent_p.Y291Y|HYAL2_ENST00000442581.1_Silent_p.Y291Y|TUSC2_ENST00000462137.1_5'Flank			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2			7					GTGTGAAGACGTAGACTGGGA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000447092.1	1	1	hg19	CCDS2818.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	1	0	0	33	132	0	33	1	1	106	492	0	33	2		0	0	0	0	0	2	1	1	33	129	0	33	2								-20.000000	1	1	121388	1	29	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMYND10	51364	broad.mit.edu	37	3	50379568	50379568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50379568G>A	ENST00000231749.3	-	9	2149	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W|ZMYND10_ENST00000490675.1_Intron|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000359365.4_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10			14					AGGAAGGCCCGAAGCTGCAAG	0.612000										TSP Lung(30;0.18)														0							SO:0001583	missense			ENST00000231749.3	1	1	hg19	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721875	0.68959	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	.	.	.	5.31	3.41	0.39046	.	0.107154	0.64402	D	0.000005	T	0.76912	0.4054	M	0.86178	2.8	0.32311	N	0.563782	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.909	D	0.83569	0.0111	9	0.87932	D	0	-9.3558	13.8817	0.63686	0.0:0.0:0.7216:0.2784	.	288;293	O75800-2;O75800	.;ZMY10_HUMAN	W	293;288;250	.	ENSP00000231749:R293W	R	-	1	2	ZMYND10	50354572	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	2.512000	0.45485	0.536000	0.28733	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	1	0	1	66	367	0	85	0	2.402193e-02	0	2	0	85	2		0	0	0	0	0	2	1	1	66	355	0	82	2								-3.078434	1	1	121412	4	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPRL2	10641	broad.mit.edu	37	3	50385985	50385985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385985G>A	ENST00000232501.3	-	7	1131	c.693C>T	c.(691-693)ggC>ggT	p.G231G	ZMYND10_ENST00000360165.3_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_5'UTR|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)			11					GTGTCACAACGCCGTAGTACC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000232501.3	1	1	hg19	CCDS2826.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	1	0	1	68	256	0	87	1	9.999776e-01	18	44	0	87	2		0	0	0	0	0	2	1	1	67	255	0	84	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPRL2	10641	broad.mit.edu	37	3	50385991	50385991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385991G>T	ENST00000232501.3	-	7	1125	c.687C>A	c.(685-687)taC>taA	p.Y229*	ZMYND10_ENST00000360165.3_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|CYB561D2_ENST00000232508.5_5'Flank|NPRL2_ENST00000493465.1_5'UTR|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)			11					CAACGCCGTAGTACCTGAGAG	0.582000																								0							SO:0001587	stop_gained			ENST00000232501.3	0	1	hg19	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	38	6.645978	0.97730	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.65	2.81	0.32909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9752	10.0896	0.42439	0.2228:0.0:0.7772:0.0	.	.	.	.	X	229	.	ENSP00000232501:Y229X	Y	-	3	2	NPRL2	50360995	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.347000	0.52200	0.285000	0.22329	0.655000	0.94253	TAC		TCGA-IB-7651-01A-11D-2154-08	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	0	0	1	59	268	1	81	0	9.895825e-01	4	59	1	81	5		0	0	0	0	0	2	1	1	59	265	1	80	15								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEMK1	51409	broad.mit.edu	37	3	50608542	50608542	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50608542C>A	ENST00000232854.4	+	2	559	c.7C>A	c.(7-9)Ctt>Att	p.L3I	C3orf18_ENST00000449241.1_5'Flank|HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I|HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1			3					AGACATGGAGCTTTGGGGCCG	0.612000																								0							SO:0001583	missense			ENST00000232854.4	1	1	hg19	CCDS2830.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452860	0.43531	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.19806	2.12;2.12;2.12	5.41	3.55	0.40652	.	0.555495	0.16504	N	0.211525	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.25405	0.06	T	0.27297	-1.0078	10	0.33940	T	0.23	-0.1948	9.0888	0.36598	0.0:0.8172:0.0:0.1828	.	3	Q9Y5R4	HEMK1_HUMAN	I	3	ENSP00000404843:L3I;ENSP00000232854:L3I;ENSP00000404334:L3I	ENSP00000232854:L3I	L	+	1	0	HEMK1	50583546	0.001000	0.12720	0.005000	0.12908	0.211000	0.24417	0.129000	0.15830	0.599000	0.29845	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	0	0	1	27	337	0	72	1	9.434896e-01	9	53	0	72	2		0	0	0	0	0	2	1	1	27	330	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.890000	0.600000	1.000000	1.000000	0.874496	0.890000	1	7.300000e-01	1
MAPKAPK3	7867	broad.mit.edu	37	3	50685354	50685354	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50685354G>A	ENST00000446044.1	+	13	1622	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	p.M342I(1)		2					TGGCCACTATGCGGGTAGACT	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000446044.1	1	1	hg19	CCDS2832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.978411|3.978411	0.74360|0.74360	.|.	.|.	ENSG00000114738|ENSG00000114738	ENST00000451680|ENST00000446044;ENST00000357955	.|T;T	.|0.47869	.|0.83;0.83	5.88|5.88	4.99|4.99	0.66335|0.66335	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45538|0.45538	0.1347|0.1347	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|P	.|0.34629	.|0.46	.|B	.|0.28709	.|0.093	T|T	0.43228|0.43228	-0.9404|-0.9404	5|10	.|0.13853	.|T	.|0.58	-32.8874|-32.8874	15.8567|15.8567	0.78983|0.78983	0.0:0.0:0.863:0.137|0.0:0.0:0.863:0.137	.|.	.|342	.|Q16644	.|MAPK3_HUMAN	T|I	57|342	.|ENSP00000396467:M342I;ENSP00000350639:M342I	.|ENSP00000350639:M342I	A|M	+|+	1|3	0|0	MAPKAPK3|MAPKAPK3	50660358|50660358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.916000|7.916000	0.87491|0.87491	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	GCG|ATG		TCGA-IB-7651-01A-11D-2154-08	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	1	0	1	87	430	0	112	1	1	30	113	0	112	2		0	0	0	0	0	2	1	1	86	423	0	110	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK3	1795	broad.mit.edu	37	3	51251556	51251556	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51251556T>G	ENST00000266037.9	+	14	1153	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3			45					TTTGCAGGTCTTATCATTTCT	0.368000																								0							SO:0001583	missense			ENST00000266037.9	1	1	hg19	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412551	0.83340	.	.	ENSG00000088538	ENST00000266037	T	0.09163	3.01	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.48387	-0.9040	10	0.87932	D	0	.	15.6362	0.76953	0.0:0.0:0.0:1.0	.	377	Q8IZD9	DOCK3_HUMAN	R	377	ENSP00000266037:L377R	ENSP00000266037:L377R	L	+	2	0	DOCK3	51226596	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.483000	0.81158	2.155000	0.67459	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	0	10	146	0	32		0	0	0	0	32	2	1	9.999994e-01	20	517	0	391	2	1	9.967779e-01	10	142	0	32	2								-5.409453	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.790000	0.400000	1.000000	1.000000	0.783268	0.790000	0	5.700000e-01	1
DOCK3	1795	broad.mit.edu	37	3	51263178	51263178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51263178C>A	ENST00000266037.9	+	15	1374	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3			45					CATGTATGTGCTTTATGCAGA	0.433000																								0							SO:0001583	missense			ENST00000266037.9	1	1	hg19	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806972	0.90623	.	.	ENSG00000088538	ENST00000266037	T	0.14640	2.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.44542	1.39	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.00948	-1.1504	10	0.22109	T	0.4	.	19.7077	0.96081	0.0:1.0:0.0:0.0	.	451	Q8IZD9	DOCK3_HUMAN	I	451	ENSP00000266037:L451I	ENSP00000266037:L451I	L	+	1	0	DOCK3	51238218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.694000	0.68272	2.733000	0.93635	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	1	88	400	0	95		0	0	0	0	95	2	1	1	46	182	0	197	2	1	1	86	390	0	94	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK3	1795	broad.mit.edu	37	3	51264771	51264771	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51264771C>A	ENST00000266037.9	+	16	1458	c.1435C>A	c.(1435-1437)Ctc>Atc	p.L479I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	p.L468I(1)|p.L479I(1)		45					CTCCTTTGTCCTCTACCACAG	0.478000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000266037.9	1	1	hg19	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152422	0.94645	.	.	ENSG00000088538	ENST00000266037	T	0.14766	2.48	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00501	-1.1702	10	0.19590	T	0.45	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	479	Q8IZD9	DOCK3_HUMAN	I	479	ENSP00000266037:L479I	ENSP00000266037:L479I	L	+	1	0	DOCK3	51239811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	1	145	587	0	167		0	0	0	0	167	2	1	1	86	588	0	519	2	1	1	143	576	0	165	2								-3.111850	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK3	1795	broad.mit.edu	37	3	51394453	51394453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51394453C>T	ENST00000266037.9	+	44	4587	c.4564C>T	c.(4564-4566)Cgc>Tgc	p.R1522C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3			45					CCAGGAGCTACGCTCCCTGAT	0.512000																								0							SO:0001583	missense			ENST00000266037.9	0	1	hg19	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429971	0.83776	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18174	2.23	5.84	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40270	-0.9572	10	0.56958	D	0.05	.	12.2217	0.54437	0.3272:0.6728:0.0:0.0	.	1522	Q8IZD9	DOCK3_HUMAN	C	1522;318	ENSP00000266037:R1522C	ENSP00000266037:R1522C	R	+	1	0	DOCK3	51369493	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.501000	0.60393	2.765000	0.95021	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	0	19	187	1	48	0	0	0	1	1	48	2	1	9.999999e-01	33	291	0	223	2	1	7.940295e-01	19	183	1	47	15								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.690000	1.000000	1.000000	0.957147	0.990000	1	8.800000e-01	1
DOCK3	1795	broad.mit.edu	37	3	51399995	51399995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51399995C>T	ENST00000266037.9	+	49	5206	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3			45					GGCTCAGTCACCAACGTCTCT	0.557000																								0							SO:0001583	missense			ENST00000266037.9	1	1	hg19	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832503	0.50845	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05139	3.49	5.26	5.26	0.73747	.	0.336637	0.33834	N	0.004503	T	0.07863	0.0197	L	0.40543	1.245	0.45427	D	0.998408	B	0.32968	0.392	B	0.31869	0.137	T	0.15350	-1.0440	10	0.56958	D	0.05	.	15.5861	0.76485	0.0:0.862:0.138:0.0	.	1728	Q8IZD9	DOCK3_HUMAN	I	1728;524	ENSP00000266037:T1728I	ENSP00000266037:T1728I	T	+	2	0	DOCK3	51375035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.702000	0.54800	2.605000	0.88082	0.563000	0.77884	ACC		TCGA-IB-7651-01A-11D-2154-08	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	1	0	1	46	197	0	56	0	9.744329e-02	0	3	0	56	2	1	1	233	972	0	1145	2	1	1	46	194	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPRBP	9730	broad.mit.edu	37	3	51457286	51457286	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457286C>T	ENST00000335891.5	-	7	1800	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein			41					AGTTTATTGGCGCTTGCCGCC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000335891.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	118	425	0	102	1	9.999949e-01	12	53	0	102	2		0	0	0	0	0	2	1	1	117	415	0	101	2								-4.144474	1	1	120892	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPRBP	9730	broad.mit.edu	37	3	51457767	51457767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457767G>A	ENST00000335891.5	-	7	1319	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein			41					TGGGGTAAAGGCAGAAGAATG	0.527000																								0							SO:0001583	missense			ENST00000335891.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.24	1.877421	0.33162	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.35048	1.33;1.33	6.07	6.07	0.98685	.	0.263121	0.44688	D	0.000424	T	0.31071	0.0785	L	0.34521	1.04	0.44603	D	0.997579	B	0.29646	0.253	B	0.28305	0.088	T	0.06935	-1.0799	10	0.13470	T	0.59	-12.0272	20.6439	0.99570	0.0:0.0:1.0:0.0	.	886	Q9Y4B6	VPRBP_HUMAN	V	457;437	ENSP00000393183:A457V;ENSP00000338857:A437V	ENSP00000338857:A437V	A	-	2	0	VPRBP	51432807	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.219000	0.78000	2.884000	0.98904	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	66	337	0	83	1	9.999010e-01	26	44	0	83	2		0	0	0	0	0	2	1	1	65	325	0	83	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPRBP	9730	broad.mit.edu	37	3	51458120	51458120	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51458120A>G	ENST00000335891.5	-	7	966	c.957T>C	c.(955-957)agT>agC	p.S319S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein			41					GGACAGTGCTACTGCGAGACA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000335891.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	97	437	0	103	1	9.999901e-01	19	57	0	103	2		0	0	0	0	0	2	1	1	96	431	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM2	2912	broad.mit.edu	37	3	51743024	51743024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743024G>A	ENST00000395052.3	+	2	259	c.25G>A	c.(25-27)Gca>Aca	p.A9T	GRM2_ENST00000442933.2_Missense_Mutation_p.A9T|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2			33					TGCGCTCCTGGCACTGCTGCT	0.632000																								0							SO:0001583	missense			ENST00000395052.3	1	1	hg19	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	9.794	1.178770	0.21787	.	.	ENSG00000164082	ENST00000395052;ENST00000419928;ENST00000442933	D;D;D	0.94232	-2.44;-3.38;-2.54	4.98	1.85	0.25348	.	0.572387	0.10090	U	0.717260	D	0.84424	0.5469	N	0.19112	0.55	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.70428	-0.4874	10	0.22109	T	0.4	.	3.3242	0.07061	0.1657:0.2389:0.4812:0.1143	.	9	Q14416	GRM2_HUMAN	T	9	ENSP00000378492:A9T;ENSP00000404797:A9T;ENSP00000408906:A9T	ENSP00000296479:A9T	A	+	1	0	GRM2	51718064	0.168000	0.22989	0.928000	0.36995	0.922000	0.55478	0.356000	0.20181	0.622000	0.30249	-0.310000	0.09108	GCA		TCGA-IB-7651-01A-11D-2154-08	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1	1	0	1	38	136	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	38	134	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM2	2912	broad.mit.edu	37	3	51743339	51743339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743339G>A	ENST00000395052.3	+	2	574	c.340G>A	c.(340-342)Gct>Act	p.A114T	GRM2_ENST00000442933.2_Missense_Mutation_p.A114T|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2			33					CAGCCGTGGTGCTGATGGCTC	0.597000																								0							SO:0001583	missense			ENST00000395052.3	1	1	hg19	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202368	0.38905	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.143290	0.48286	D	0.000185	T	0.66626	0.2808	N	0.02721	-0.515	0.41098	D	0.985647	B	0.17038	0.02	B	0.21360	0.034	T	0.64037	-0.6501	10	0.14252	T	0.57	.	12.5595	0.56273	0.0758:0.0:0.9242:0.0	.	114	Q14416	GRM2_HUMAN	T	114	ENSP00000378492:A114T;ENSP00000408906:A114T	ENSP00000296479:A114T	A	+	1	0	GRM2	51718379	0.997000	0.39634	0.260000	0.24451	0.952000	0.60782	4.131000	0.57970	2.555000	0.86185	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1	1	0	0	68	289	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	67	285	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM2	2912	broad.mit.edu	37	3	51749343	51749343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51749343C>T	ENST00000395052.3	+	4	1788	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2			33					GCGAAGTCTGCTGCTGGCTCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000395052.3	1	1	hg19	CCDS2834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1	1	0	0	14	191	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	9.997713e-01	14	189	0	50	2								-18.262890	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.830000	0.470000	1.000000	1.000000	0.819685	0.830000	0	6.300000e-01	1
IQCF2	389123	broad.mit.edu	37	3	51897380	51897380	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51897380C>T	ENST00000333127.3	+	3	518	c.489C>T	c.(487-489)aaC>aaT	p.N163N	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2			10					AGATCATCAACTCCTAAGGGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000333127.3	1	1	hg19	CCDS2835.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	1	0	1	91	429	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	90	424	0	133	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQCF1	132141	broad.mit.edu	37	3	51929102	51929102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51929102C>T	ENST00000310914.5	-	4	484	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1			12					ATAGCGTCTGCGGATGCGCCA	0.607000																								0							SO:0001583	missense			ENST00000310914.5	1	1	hg19	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174636	0.21704	.	.	ENSG00000173389	ENST00000310914	T	0.65549	-0.16	4.75	2.96	0.34315	.	0.221444	0.32488	N	0.006039	T	0.47893	0.1470	L	0.39147	1.195	0.09310	N	1	B	0.33379	0.41	B	0.30646	0.118	T	0.40887	-0.9539	10	0.49607	T	0.09	-19.5588	7.7834	0.29078	0.0:0.8196:0.0:0.1804	.	141	Q8N6M8	IQCF1_HUMAN	H	141	ENSP00000307958:R141H	ENSP00000307958:R141H	R	-	2	0	IQCF1	51904142	0.121000	0.22262	0.002000	0.10522	0.429000	0.31625	1.466000	0.35310	0.727000	0.32360	0.549000	0.68633	CGC		TCGA-IB-7651-01A-11D-2154-08	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	1	0	1	94	467	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1	94	461	0	120	2								-20.000000	1	1	121412	4	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR62	118442	broad.mit.edu	37	3	51990245	51990245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990245G>A	ENST00000322241.4	+	1	916	c.577G>A	c.(577-579)Ggc>Agc	p.G193S		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62			5					CGGCGCCTACGGCGGCATCTT	0.746000																								0							SO:0001583	missense			ENST00000322241.4	0	1	hg19	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272912	0.23221	.	.	ENSG00000180929	ENST00000322241	T	0.71817	-0.6	4.21	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.779683	0.10556	N	0.660823	T	0.50922	0.1644	N	0.17631	0.505	0.27682	N	0.946402	B	0.25206	0.12	B	0.21546	0.035	T	0.33727	-0.9857	10	0.20519	T	0.43	-14.668	7.3158	0.26499	0.2858:0.0:0.7142:0.0	.	193	Q9BZJ7	GPR62_HUMAN	S	193	ENSP00000319250:G193S	ENSP00000319250:G193S	G	+	1	0	GPR62	51965285	0.282000	0.24268	0.952000	0.39060	0.802000	0.45316	0.144000	0.16135	-0.033000	0.13736	0.305000	0.20034	GGC		TCGA-IB-7651-01A-11D-2154-08	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1	1	0	0	16	68	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.999455e-01	16	64	0	7	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999793	0.990000	1	9.900000e-01	1
GPR62	118442	broad.mit.edu	37	3	51990621	51990621	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990621C>T	ENST00000322241.4	+	1	1292	c.953C>T	c.(952-954)cCg>cTg	p.P318L		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62			5					GCCTGCACTCCGCAAGCCTGG	0.697000																								0							SO:0001583	missense			ENST00000322241.4	1	1	hg19	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455750	0.12283	.	.	ENSG00000180929	ENST00000322241	T	0.03065	4.06	4.75	0.657	0.17850	.	0.597438	0.12512	U	0.462400	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48525	-0.9028	10	0.16420	T	0.52	-10.3083	7.1624	0.25671	0.0:0.5642:0.0:0.4358	.	318	Q9BZJ7	GPR62_HUMAN	L	318	ENSP00000319250:P318L	ENSP00000319250:P318L	P	+	2	0	GPR62	51965661	0.000000	0.05858	0.010000	0.14722	0.685000	0.39939	0.147000	0.16202	0.058000	0.16222	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1	1	0	0	52	146	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	1	52	140	0	21	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD14A	25864	broad.mit.edu	37	3	52014483	52014483	+	Missense_Mutation	SNP	C	C	T	rs147658919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52014483C>T	ENST00000273596.3	+	4	540	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ACY1_ENST00000494103.1_5'Flank|ABHD14B_ENST00000483233.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000458031.2_Intron|ACY1_ENST00000404366.2_5'Flank|ACY1_ENST00000476854.1_5'Flank|ACY1_ENST00000476351.1_5'Flank|ABHD14A_ENST00000491470.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A			6					GCGGGCGCTGCGGGACCTGGA	0.627000																								0							SO:0001583	missense			ENST00000273596.3	1	1	hg19	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152146	0.38021	0.0	1.16E-4	ENSG00000248487	ENST00000497864;ENST00000273596;ENST00000360889;ENST00000538216	T;T	0.35973	1.28;1.92	5.69	3.86	0.44501	.	0.985990	0.08284	N	0.969485	T	0.49525	0.1562	M	0.81682	2.555	0.51012	D	0.9999	D	0.63880	0.993	P	0.51229	0.663	T	0.44559	-0.9320	10	0.72032	D	0.01	-0.6127	5.0677	0.14591	0.1396:0.6:0.182:0.0784	.	158	Q9BUJ0	ABHEA_HUMAN	W	223;158;116;116	ENSP00000418242:R223W;ENSP00000273596:R158W	ENSP00000273596:R158W	R	+	1	2	ABHD14A	51989523	0.273000	0.24181	0.017000	0.16124	0.110000	0.19582	0.976000	0.29462	0.678000	0.31325	-0.251000	0.11542	CGG		TCGA-IB-7651-01A-11D-2154-08	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	1	0	1	107	393	0	71	1	9.999993e-01	21	56	0	71	2		0	0	0	0	0	2	1	1	105	382	0	70	2								-3.606234	1	1	121408	12	42	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP7	1849	broad.mit.edu	37	3	52087977	52087977	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52087977G>T	ENST00000495880.1	-	2	1114	c.931C>A	c.(931-933)Cct>Act	p.P311T	DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T			Q16829	DUS7_HUMAN	dual specificity phosphatase 7			17					ATGGCCTCAGGGAAGAACTGG	0.612000																								0							SO:0001583	missense			ENST00000495880.1	1	1	hg19	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049044	0.93740	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.86030	-2.06;-2.06;-2.06	5.54	5.54	0.83059	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92917	0.6352	10	0.72032	D	0.01	.	19.4497	0.94862	0.0:0.0:1.0:0.0	.	260;311	Q16829-2;Q16829	.;DUS7_HUMAN	T	311;260;244	ENSP00000417183:P311T;ENSP00000296483:P260T;ENSP00000418566:P244T	ENSP00000296483:P260T	P	-	1	0	DUSP7	52063017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.757000	0.94681	0.643000	0.83706	CCT		TCGA-IB-7651-01A-11D-2154-08	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	1	0	1	84	380	0	93	1	1	21	111	0	93	2		0	0	0	0	0	2	1	1	81	376	0	91	2								-3.094645	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP7	1849	broad.mit.edu	37	3	52088391	52088391	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52088391C>A	ENST00000495880.1	-	2	701		c.e2-1		DUSP7_ENST00000296483.6_Splice_Site			Q16829	DUS7_HUMAN	dual specificity phosphatase 7			17					TTGAAACCACCTGTGTCCAGG	0.597000																								0							SO:0001630	splice_region_variant			ENST00000495880.1	1	0	hg19	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197309	0.79015	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	.	.	.	5.42	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7692	0.63015	0.0:0.9251:0.0:0.0749	.	.	.	.	.	-1	.	.	.	-	.	.	DUSP7	52063431	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.749000	0.85096	1.282000	0.44496	0.549000	0.68633	.		TCGA-IB-7651-01A-11D-2154-08	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	1	0	0	36	168	0	27	1	7.361416e-01	14	0	0	27	2		0	0	0	0	0	2	1	1	36	165	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
POC1A	25886	broad.mit.edu	37	3	52156463	52156463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52156463C>T	ENST00000296484.2	-	9	952	c.913G>A	c.(913-915)Gtt>Att	p.V305I	POC1A_ENST00000474012.1_Missense_Mutation_p.V267I|POC1A_ENST00000394970.2_Missense_Mutation_p.V305I	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A			14					CCATGATCAACAATATCAAAG	0.517000																								0							SO:0001583	missense			ENST00000296484.2	1	1	hg19	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	4.967	0.179576	0.09443	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.58797	0.32;0.31;0.5	4.64	0.836	0.18891	WD40-repeat-containing domain (1);	1.093350	0.06840	N	0.795476	T	0.41305	0.1153	N	0.20807	0.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.25950	-1.0117	10	0.32370	T	0.25	.	8.4839	0.33061	0.0:0.6345:0.0:0.3655	.	305;305	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	I	305;305;267	ENSP00000296484:V305I;ENSP00000378421:V305I;ENSP00000418968:V267I	ENSP00000296484:V305I	V	-	1	0	POC1A	52131503	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.017000	0.12590	0.045000	0.15804	-1.814000	0.00607	GTT		TCGA-IB-7651-01A-11D-2154-08	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	1	0	0	19	251	0	55	1	5.860751e-01	2	25	0	55	2		0	0	0	0	0	2	1	9.999910e-01	18	248	0	55	2								-19.999850	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.850000	0.520000	1.000000	1.000000	0.839612	0.850000	1	6.700000e-01	1
POC1A	25886	broad.mit.edu	37	3	52181054	52181054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52181054C>T	ENST00000296484.2	-	5	552	c.513G>A	c.(511-513)ctG>ctA	p.L171L	POC1A_ENST00000474012.1_Silent_p.L133L|POC1A_ENST00000394970.2_Silent_p.L171L	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A			14					TCTTGTCCCACAGCTTAACAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000296484.2	1	1	hg19	CCDS2846.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	1	0	1	63	334	0	91	1	9.596724e-01	11	19	0	91	2		0	0	0	0	0	2	1	1	61	331	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POC1A	25886	broad.mit.edu	37	3	52185074	52185074	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52185074C>A	ENST00000296484.2	-	2	100	c.61G>T	c.(61-63)Gca>Tca	p.A21S	POC1A_ENST00000474012.1_5'UTR|POC1A_ENST00000394970.2_Missense_Mutation_p.A21S	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A			14					CAGGTAACTGCATCTCGGTGG	0.532000																								0							SO:0001583	missense			ENST00000296484.2	1	1	hg19	CCDS2846.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730235	0.48939	.	.	ENSG00000164087	ENST00000296484;ENST00000394970	T;T	0.59638	0.25;0.25	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.583031	0.18731	N	0.132733	T	0.45617	0.1351	L	0.37507	1.11	0.32886	D	0.51126	B;B	0.25809	0.135;0.078	B;B	0.26310	0.067;0.068	T	0.50642	-0.8804	10	0.17369	T	0.5	.	11.7868	0.52047	0.0:0.9193:0.0:0.0807	.	21;21	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	S	21	ENSP00000296484:A21S;ENSP00000378421:A21S	ENSP00000296484:A21S	A	-	1	0	POC1A	52160114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.263000	0.43293	2.643000	0.89663	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	1	0	1	127	594	0	149	1	7.696531e-01	7	8	0	149	2		0	0	0	0	0	2	1	1	123	585	0	148	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALAS1	211	broad.mit.edu	37	3	52239987	52239987	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52239987G>A	ENST00000394965.2	+	7	1293	c.933G>A	c.(931-933)tcG>tcA	p.S311S	ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000469224.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	p.S311S(1)		23				Glycine(DB00145)	TGTTTTCCTCGTGCTTTGTGG	0.483000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000394965.2	1	1	hg19	CCDS2847.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1	1	0	1	107	324	0	96	1	1	123	250	0	96	2		0	0	0	0	0	2	1	1	105	319	0	95	2								-5.500976	1	1	121412	2	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLR9	54106	broad.mit.edu	37	3	52256063	52256063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256063C>T	ENST00000360658.2	-	2	2902	c.2269G>A	c.(2269-2271)Gta>Ata	p.V757I	TLR9_ENST00000494383.1_Missense_Mutation_p.C910Y|TLR9_ENST00000597542.1_Missense_Mutation_p.V781I	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9			30				Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TTGGCGCTTACATCTAGTATT	0.637000																								0							SO:0001583	missense			ENST00000360658.2	1	1	hg19	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.78|11.78	1.740014|1.740014	0.30865|0.30865	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.56275	.|0.47	5.14|5.14	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.33938	.|N	.|0.004413	T|T	0.26195|0.26195	0.0639|0.0639	N|N	0.03608|0.03608	-0.345|-0.345	0.24419|0.24419	N|N	0.994621|0.994621	.|B;P	.|0.38148	.|0.114;0.62	.|B;B	.|0.36092	.|0.055;0.217	T|T	0.10520|0.10520	-1.0626|-1.0626	5|10	.|0.44086	.|T	.|0.13	.|.	8.2711|8.2711	0.31844|0.31844	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|854;757	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	Y|I	910|757	.|ENSP00000353874:V757I	.|ENSP00000353874:V757I	C|V	-|-	2|1	0|0	RP11-330H6.5|TLR9	52231103|52231103	0.003000|0.003000	0.15002|0.15002	0.255000|0.255000	0.24374|0.24374	0.066000|0.066000	0.16364|0.16364	-0.002000|-0.002000	0.12924|0.12924	2.387000|2.387000	0.81309|0.81309	0.462000|0.462000	0.41574|0.41574	TGT|GTA		TCGA-IB-7651-01A-11D-2154-08	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	1	0	1	76	382	0	96	0	2.819957e-02	0	2	0	96	2		0	0	0	0	0	2	1	1	75	378	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLR9	54106	broad.mit.edu	37	3	52256221	52256221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256221C>T	ENST00000360658.2	-	2	2744	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	TLR9_ENST00000494383.1_Silent_p.P857P|TLR9_ENST00000597542.1_Missense_Mutation_p.R728Q	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9			30				Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	ATCCAGCCTCCGGAGCCGGGT	0.627000																								0							SO:0001583	missense			ENST00000360658.2	1	1	hg19	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138269	0.01742	.	.	ENSG00000239732	ENST00000360658	T	0.58506	0.33	5.03	-4.47	0.03525	.	0.711076	0.11608	N	0.547128	T	0.28896	0.0717	N	0.17674	0.51	0.09310	N	1	B;B	0.20550	0.007;0.046	B;B	0.12837	0.002;0.008	T	0.37079	-0.9721	10	0.02654	T	1	.	6.3756	0.21505	0.1466:0.5007:0.0:0.3527	.	801;704	B4E0A1;Q9NR96	.;TLR9_HUMAN	Q	704	ENSP00000353874:R704Q	ENSP00000353874:R704Q	R	-	2	0	TLR9	52231261	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.632000	0.00870	-0.844000	0.04184	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	0	0	0	36	398	0	77	0	3.919912e-02	0	4	0	77	2		0	0	0	0	0	2	1	1	36	391	0	77	2								-2.841672	1	1	121412	2	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.938074	0.990000	1	8.300000e-01	1
TLR9	54106	broad.mit.edu	37	3	52257562	52257562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52257562C>T	ENST00000360658.2	-	2	1403	c.770G>A	c.(769-771)cGc>cAc	p.R257H	TLR9_ENST00000494383.1_Silent_p.P410P|TLR9_ENST00000597542.1_Missense_Mutation_p.R281H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9			30				Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GTGGTCGCAGCGGCGGCAATT	0.617000																								0							SO:0001583	missense			ENST00000360658.2	1	1	hg19	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622972	0.87460	.	.	ENSG00000239732	ENST00000360658	T	0.19105	2.17	5.38	5.38	0.77491	.	0.000000	0.32548	N	0.005945	T	0.52273	0.1724	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58999	-0.7536	10	0.87932	D	0	.	16.6158	0.84915	0.0:1.0:0.0:0.0	.	354;257	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	257	ENSP00000353874:R257H	ENSP00000353874:R257H	R	-	2	0	TLR9	52232602	1.000000	0.71417	0.990000	0.47175	0.424000	0.31475	7.427000	0.80284	2.521000	0.84997	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	1	0	1	26	143	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	26	141	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999885	0.990000	1	9.900000e-01	1
TLR9	54106	broad.mit.edu	37	3	52258212	52258212	+	Silent	SNP	G	G	A	rs151147353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52258212G>A	ENST00000360658.2	-	2	753	c.120C>T	c.(118-120)caC>caT	p.H40H	TLR9_ENST00000494383.1_Missense_Mutation_p.R194W|TLR9_ENST00000597542.1_Silent_p.H64H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9			30				Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TCACCAGGCCGTGGGGCTGGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000360658.2	1	0	hg19	CCDS2848.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.012	-1.652272	0.00785	9.08E-4	0.0	ENSG00000173366	ENST00000494383	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16958	-1.0385	4	.	.	.	.	3.9338	0.09298	0.235:0.1249:0.4535:0.1866	.	.	.	.	W	194	.	.	R	-	1	2	RP11-330H6.5	52233252	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-6.209000	0.00076	-5.697000	0.00010	-4.451000	0.00005	CGG		TCGA-IB-7651-01A-11D-2154-08	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	1	0	0	32	250	0	43	0	3.819353e-02	0	3	0	43	2		0	0	0	0	0	2	1	1	31	243	0	43	2								-7.470407	1	1	121408	22	45	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.950000	1.000000	1.000000	0.996878	0.990000	1	9.900000e-01	1
TWF2	11344	broad.mit.edu	37	3	52265189	52265189	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52265189G>A	ENST00000305533.5	-	5	680	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TLR9_ENST00000494383.1_Silent_p.P6P|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2			15					CGAGGTCAGCGGGGCAGGTGC	0.617000																								0							SO:0001583	missense			ENST00000305533.5	1	1	hg19	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244418	0.59103	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.31510	1.49;1.49	5.41	5.41	0.78517	.	.	.	.	.	T	0.59649	0.2209	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61422	-0.7066	9	0.35671	T	0.21	.	14.4189	0.67171	0.0733:0.0:0.9267:0.0	.	146;146	D6RG15;Q6IBS0	.;TWF2_HUMAN	L	146	ENSP00000303908:P146L;ENSP00000426464:P146L	ENSP00000303908:P146L	P	-	2	0	TWF2	52240229	1.000000	0.71417	0.953000	0.39169	0.107000	0.19398	5.350000	0.66016	2.527000	0.85204	0.448000	0.29417	CCG		TCGA-IB-7651-01A-11D-2154-08	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2	1	0	1	95	585	0	107	1	1	133	469	0	107	2		0	0	0	0	0	2	1	1	92	575	0	107	2								-2.716744	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TWF2	11344	broad.mit.edu	37	3	52266028	52266028	+	Missense_Mutation	SNP	G	G	A	rs35114109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52266028G>A	ENST00000305533.5	-	3	457	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	TLR9_ENST00000494383.1_5'Flank|TWF2_ENST00000499914.2_Missense_Mutation_p.R72C|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2			15					GAGTCGAGGCGGTAGAGCAGG	0.647000											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000305533.5	1	1	hg19	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035583	0.75617	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.38560	1.13;1.13	5.61	5.61	0.85477	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.71660	0.3366	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.932	T	0.76528	-0.2926	9	0.66056	D	0.02	.	19.6089	0.95594	0.0:0.0:1.0:0.0	rs35114109	72;72	D6RG15;Q6IBS0	.;TWF2_HUMAN	C	72	ENSP00000303908:R72C;ENSP00000426464:R72C	ENSP00000303908:R72C	R	-	1	0	TWF2	52241068	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.880000	0.87243	2.644000	0.89710	0.455000	0.32223	CGC		TCGA-IB-7651-01A-11D-2154-08	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2	1	0	1	76	297	0	75	1	1	80	288	0	75	2		0	0	0	0	0	2	1	1	75	293	0	75	2								-3.406822	1	1	121412	1	42	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52357823	52357823	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357823G>A	ENST00000420323.2	+	3	594		c.e3-1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	p.?(1)		62					TTTGGTTTCAGGAGGTATGTC	0.622000																								1	Unknown(1)						SO:0001630	splice_region_variant			ENST00000420323.2	0	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633947	0.29068	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1855	0.86866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52332863	1.000000	0.71417	0.960000	0.40013	0.038000	0.13279	5.952000	0.70282	2.650000	0.89964	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	6	31	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.694238e-01	6	31	0	14	2								-13.259170	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.760000	1.000000	1.000000	0.985187	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52357834	52357834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357834G>A	ENST00000420323.2	+	3	605	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					GAGGTATGTCGTGGCCCCCGA	0.627000																								0							SO:0001583	missense			ENST00000420323.2	1	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919947	0.17982	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.07	1.11	0.20524	.	1.333110	0.05233	N	0.510691	T	0.14399	0.0348	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.15141	0.012;0.01	B;B	0.08055	0.002;0.003	T	0.26950	-1.0088	10	0.35671	T	0.21	.	5.2573	0.15553	0.2825:0.2603:0.4572:0.0	.	115;115	C9JXH6;Q9P2D7-3	.;.	H	115	ENSP00000401514:R115H	ENSP00000401514:R115H	R	+	2	0	DNAH1	52332874	0.067000	0.21026	0.299000	0.25016	0.005000	0.04900	1.169000	0.31871	0.336000	0.23639	-0.150000	0.13652	CGT		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	11	29	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.991114e-01	11	29	0	14	2								-19.999460	1	0	120616	2	21	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999765	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52357889	52357889	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357889C>T	ENST00000420323.2	+	3	660	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					ACAAGTTCACCCCAAGAGGTC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000420323.2	0	1	hg19	CCDS46842.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	0	0	0	6	27	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.699981e-01	6	27	0	13	2								-13.537950	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.820000	1.000000	1.000000	0.989414	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52360312	52360312	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360312G>A	ENST00000420323.2	+	4	824	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					CAGCATCCTCGCAAGATTGAG	0.642000																								0							SO:0001583	missense			ENST00000420323.2	1	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381376	0.95945	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000133	T	0.67088	0.2856	M	0.69823	2.125	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67608	-0.5627	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	188;188	C9JXH6;Q9P2D7-3	.;.	H	188	ENSP00000401514:R188H	ENSP00000401514:R188H	R	+	2	0	DNAH1	52335352	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.608000	0.90895	2.813000	0.96785	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	0	8	119	0	28	0	5.366726e-03	0	2	0	28	2		0	0	0	0	0	2	1	9.887258e-01	8	115	0	26	2								-11.852460	1	1	121010	3	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.780000	0.370000	1.000000	1.000000	0.773680	0.780000	0	5.400000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52360809	52360809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360809G>A	ENST00000420323.2	+	5	901	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					CCAGGGCATCGACTCCAACAA	0.592000																								0							SO:0001583	missense			ENST00000420323.2	0	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778814	0.49891	0.0	1.18E-4	ENSG00000114841	ENST00000420323	T	0.23950	1.88	5.64	5.64	0.86602	.	0.112641	0.39210	N	0.001427	T	0.20659	0.0497	L	0.35341	1.055	0.44890	D	0.997904	B;B	0.09022	0.001;0.002	B;B	0.10450	0.0;0.005	T	0.04005	-1.0985	10	0.23891	T	0.37	.	13.9344	0.64017	0.0723:0.0:0.9277:0.0	.	214;214	C9JXH6;Q9P2D7-3	.;.	N	214	ENSP00000401514:D214N	ENSP00000401514:D214N	D	+	1	0	DNAH1	52335849	1.000000	0.71417	0.967000	0.41034	0.966000	0.64601	2.950000	0.49081	2.655000	0.90218	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	0	0	0	6	197	0	46	0	3.862904e-03	0	3	0	46	2		0	0	0	0	0	2	1	9.604912e-01	6	188	0	44	2								-3.401536	1	1	121154	10	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.380000	0.150000	1.000000	0.340000	0.428449	0.380000	0	2.500000e-01	5.800000e-01
DNAH1	25981	broad.mit.edu	37	3	52383039	52383039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52383039G>A	ENST00000420323.2	+	13	2503	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					GCAGGCCTACGCCAAGGAGTA	0.582000																								0							SO:0001583	missense			ENST00000420323.2	1	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371925	0.61624	.	.	ENSG00000114841	ENST00000420323	T	0.24151	1.87	5.24	4.33	0.51752	.	0.133352	0.33457	N	0.004882	T	0.38719	0.1051	M	0.83012	2.62	0.43050	D	0.994657	P;D	0.53619	0.668;0.961	B;P	0.48873	0.158;0.593	T	0.39502	-0.9611	10	0.52906	T	0.07	.	10.3996	0.44222	0.0718:0.0:0.7944:0.1338	.	748;748	C9JXH6;Q9P2D7-3	.;.	T	748	ENSP00000401514:A748T	ENSP00000401514:A748T	A	+	1	0	DNAH1	52358079	1.000000	0.71417	0.995000	0.50966	0.521000	0.34408	3.970000	0.56824	2.454000	0.82982	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	58	274	0	94	0	0	1	0	0	94	2		0	0	0	0	0	2	1	1	56	268	0	94	2								-3.137623	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52389063	52389063	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52389063C>A	ENST00000420323.2	+	21	3946	c.3685C>A	c.(3685-3687)Ctg>Atg	p.L1229M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					CAAACTGAAGCTGACCCAGGT	0.577000																								0							SO:0001583	missense			ENST00000420323.2	1	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815470	0.32145	.	.	ENSG00000114841	ENST00000420323	T	0.62498	0.02	5.14	4.27	0.50696	.	0.195600	0.24935	N	0.034437	T	0.51702	0.1690	L	0.39147	1.195	0.34934	D	0.749625	B	0.32382	0.368	B	0.38327	0.271	T	0.59332	-0.7474	10	0.39692	T	0.17	.	5.0893	0.14700	0.2129:0.6141:0.0:0.173	.	1229	C9JXH6	.	M	1229	ENSP00000401514:L1229M	ENSP00000401514:L1229M	L	+	1	2	DNAH1	52364103	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.028000	0.41088	1.164000	0.42652	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	53	227	0	77	1	2.462122e-01	2	3	0	77	2		0	0	0	0	0	2	1	1	52	220	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52393941	52393941	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52393941C>A	ENST00000420323.2	+	27	4678	c.4417C>A	c.(4417-4419)Ctg>Atg	p.L1473M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					GCTCAGTGATCTGGTGGCCCT	0.592000																								0							SO:0001583	missense			ENST00000420323.2	1	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494211	0.44352	.	.	ENSG00000114841	ENST00000420323	T	0.58210	0.35	5.13	3.33	0.38152	.	0.000000	0.42294	D	0.000740	T	0.68952	0.3057	M	0.85777	2.775	0.43808	D	0.996361	D	0.65815	0.995	P	0.61722	0.893	T	0.69658	-0.5086	10	0.46703	T	0.11	.	9.803	0.40775	0.0:0.7571:0.0:0.2429	.	1473	C9JXH6	.	M	1473	ENSP00000401514:L1473M	ENSP00000401514:L1473M	L	+	1	2	DNAH1	52368981	0.787000	0.28750	1.000000	0.80357	0.763000	0.43281	0.671000	0.25172	0.744000	0.32741	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	190	776	0	191	0	1.015372e-01	1	2	0	191	2		0	0	0	0	0	2	1	1	183	764	0	190	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52404631	52404631	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52404631C>T	ENST00000420323.2	+	40	6658	c.6397C>T	c.(6397-6399)Ctc>Ttc	p.L2133F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					CTGGCTAAGGCTCAAGATGGA	0.627000																								0							SO:0001583	missense			ENST00000420323.2	1	1	hg19	CCDS46842.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.69	1.713048	0.30413	.	.	ENSG00000114841	ENST00000420323	T	0.23348	1.91	5.0	-7.62	0.01294	.	2.801390	0.01128	N	0.005936	T	0.16557	0.0398	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.56958	D	0.05	.	1.2459	0.01973	0.2984:0.1958:0.3185:0.1873	.	2133	C9JXH6	.	F	2133	ENSP00000401514:L2133F	ENSP00000401514:L2133F	L	+	1	0	DNAH1	52379671	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.234000	0.09028	-0.885000	0.03971	-1.478000	0.00992	CTC		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	16	87	0	19	0	1.901573e-01	1	4	0	19	2		0	0	0	0	0	2	1	9.999548e-01	16	86	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998958	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52418934	52418934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52418934G>A	ENST00000420323.2	+	53	8716	c.8455G>A	c.(8455-8457)Ggg>Agg	p.G2819R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					CATCCTCATCGGGCAGAAGAA	0.567000											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000420323.2	1	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305031	0.40795	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.42131	0.98	4.38	4.38	0.52667	.	0.122893	0.36740	N	0.002422	T	0.37461	0.1004	L	0.50919	1.6	0.52099	D	0.99994	B	0.25772	0.134	B	0.16722	0.016	T	0.19095	-1.0316	10	0.20519	T	0.43	.	17.1091	0.86670	0.0:0.0:1.0:0.0	.	2819	C9JXH6	.	R	2819	ENSP00000401514:G2819R	ENSP00000401514:G2819R	G	+	1	0	DNAH1	52393974	1.000000	0.71417	0.984000	0.44739	0.950000	0.60333	5.038000	0.64177	2.287000	0.76781	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	23	107	0	22	0	6.113852e-01	0	11	0	22	2		0	0	0	0	0	2	1	9.999995e-01	23	102	0	21	2								-3.220005	1	1	120986	6	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52425296	52425296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52425296C>T	ENST00000420323.2	+	62	10104	c.9843C>T	c.(9841-9843)aaC>aaT	p.N3281N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					TCCTGGAGAACGTGGGCGAGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000420323.2	1	1	hg19	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789874	0.02884	.	.	ENSG00000114841	ENST00000480649	.	.	.	4.46	-7.97	0.01139	.	.	.	.	.	T	0.61223	0.2330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	.	14.9602	0.71151	0.0:0.5399:0.0:0.4601	.	.	.	.	C	93	.	.	R	+	1	0	DNAH1	52400336	0.004000	0.15560	0.845000	0.33349	0.137000	0.21094	-1.529000	0.02223	-1.758000	0.01315	-0.768000	0.03414	CGT		TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	21	78	0	14	1	4.677690e-01	2	5	0	14	2		0	0	0	0	0	2	1	9.999985e-01	20	75	0	14	2								-20.000000	1	1	121220	6	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
DNAH1	25981	broad.mit.edu	37	3	52429072	52429072	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52429072C>T	ENST00000420323.2	+	68	11226	c.10965C>T	c.(10963-10965)ccC>ccT	p.P3655P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					TCATTGAACCCCAGGCAAGTG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000420323.2	1	1	hg19	CCDS46842.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	7	48	0	18	1	4.115515e-01	2	8	0	18	2		0	0	0	0	0	2	1	9.830393e-01	7	48	0	18	2								-13.608680	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.680000	1.000000	1.000000	0.974627	0.990000	1	9.900000e-01	1
PHF7	51533	broad.mit.edu	37	3	52448595	52448595	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52448595T>G	ENST00000327906.3	+	4	838	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	PHF7_ENST00000347025.2_Missense_Mutation_p.F60V|PHF7_ENST00000482327.1_3'UTR	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7			9					CGTGCATTATTTCTGTCTTGT	0.443000																								0							SO:0001583	missense			ENST00000327906.3	1	1	hg19	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.134929|4.134929	0.77662|0.77662	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000454052|ENST00000461861	T;T;T|.	0.69040|.	-0.37;-0.37;-0.37|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.157115|.	0.56097|.	D|.	0.000022|.	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.81341|0.81341	2.54|2.54	0.46458|0.46458	D|D	0.999055|0.999055	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.79108|.	0.992;0.992|.	T|T	0.76721|0.76721	-0.2855|-0.2855	10|5	0.31617|.	T|.	0.26|.	-19.9395|-19.9395	11.9004|11.9004	0.52680|0.52680	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	60;60|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	V|M	60;60;60;25|19	ENSP00000419316:F60V;ENSP00000333024:F60V;ENSP00000246282:F60V|.	ENSP00000333024:F60V|.	F|I	+|+	1|3	0|3	PHF7|PHF7	52423635|52423635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	3.582000|3.582000	0.53921|0.53921	2.071000|2.071000	0.62044|0.62044	0.460000|0.460000	0.39030|0.39030	TTC|ATT		TCGA-IB-7651-01A-11D-2154-08	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	0	0	0	11	361	0	69	1	1.370788e-01	2	18	0	69	2		0	0	0	0	0	2	1	9.982120e-01	11	354	0	68	2								-11.412330	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.360000	0.190000	1.000000	0.350000	0.409769	0.360000	0	2.600000e-01	5.100000e-01
SEMA3G	56920	broad.mit.edu	37	3	52474045	52474045	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52474045G>T	ENST00000231721.2	-	11	1212	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G			18					GCAAACTGCAGCACCTCATCT	0.637000																								0							SO:0001583	missense			ENST00000231721.2	1	1	hg19	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749069	0.69533	.	.	ENSG00000010319	ENST00000231721	T	0.30981	1.51	5.13	3.32	0.38043	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000005	T	0.62282	0.2415	M	0.92507	3.315	0.44024	D	0.996745	D	0.76494	0.999	D	0.83275	0.996	T	0.69921	-0.5014	10	0.87932	D	0	.	11.8658	0.52493	0.1436:0.0:0.8564:0.0	.	405	Q9NS98	SEM3G_HUMAN	M	405	ENSP00000231721:L405M	ENSP00000231721:L405M	L	-	1	2	SEMA3G	52449085	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.265000	0.51561	0.732000	0.32470	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	1	0	1	99	377	0	83	0	7.861846e-01	0	13	0	83	2		0	0	0	0	0	2	1	1	99	371	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA3G	56920	broad.mit.edu	37	3	52475298	52475298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52475298G>A	ENST00000231721.2	-	7	794	c.795C>T	c.(793-795)cgC>cgT	p.R265R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G			18					CGCGGCCCACGCGGCTGACAG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000231721.2	0	1	hg19	CCDS2856.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	0	0	0	7	387	0	80	0	1.795332e-02	0	10	0	80	2		0	0	0	0	0	2	1	9.801085e-01	7	384	0	78	2								-6.799958	1	1	121408	19	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.220000	0.090000	1.000000	0.210000	0.278812	0.220000	0	1.500000e-01	3.400000e-01
TNNC1	7134	broad.mit.edu	37	3	52485422	52485422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485422G>A	ENST00000232975.3	-	5	493	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	p.R147C(1)		6				Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	TAGTCGATGCGGCCGTCGTTG	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000232975.3	1	1	hg19	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071955	0.55646	.	.	ENSG00000114854	ENST00000232975	T	0.72505	-0.66	5.28	4.32	0.51571	EF-hand-like domain (1);	0.045312	0.85682	D	0.000000	T	0.64427	0.2597	L	0.60067	1.865	0.80722	D	1	P	0.47962	0.903	B	0.39771	0.309	T	0.70842	-0.4762	10	0.87932	D	0	.	10.6775	0.45794	0.0:0.0:0.5674:0.4326	.	147	P63316	TNNC1_HUMAN	C	147	ENSP00000232975:R147C	ENSP00000232975:R147C	R	-	1	0	TNNC1	52460462	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.222000	0.51223	2.471000	0.83476	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1	1	0	1	45	228	0	52	1	9.733973e-01	9	23	0	52	2		0	0	0	0	0	2	1	1	42	226	0	52	2								-19.999880	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNNC1	7134	broad.mit.edu	37	3	52485481	52485481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485481G>A	ENST00000232975.3	-	5	434	c.380C>T	c.(379-381)aCc>aTc	p.T127I		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)			6				Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	CTCCGTGATGGTCTCGCCTGT	0.587000																								0							SO:0001583	missense			ENST00000232975.3	1	1	hg19	CCDS2857.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189317	0.57909	.	.	ENSG00000114854	ENST00000232975;ENST00000496590	D;D	0.95171	-3.63;-3.63	5.58	3.76	0.43208	EF-hand-like domain (1);	0.192979	0.56097	N	0.000035	D	0.88735	0.6517	N	0.19112	0.55	0.50813	D	0.999896	B	0.10296	0.003	B	0.13407	0.009	T	0.83351	-0.0003	10	0.87932	D	0	.	10.7971	0.46466	0.0682:0.0:0.8012:0.1306	.	127	P63316	TNNC1_HUMAN	I	127;83	ENSP00000232975:T127I;ENSP00000420596:T83I	ENSP00000232975:T127I	T	-	2	0	TNNC1	52460521	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.917000	0.48821	0.697000	0.31718	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1	1	0	1	61	257	0	56	1	9.965598e-01	10	29	0	56	2		0	0	0	0	0	2	1	1	62	253	0	55	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NISCH	11188	broad.mit.edu	37	3	52514216	52514216	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52514216G>A	ENST00000479054.1	+	14	1505	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	NISCH_ENST00000488380.1_Missense_Mutation_p.R478Q|NISCH_ENST00000345716.4_Missense_Mutation_p.R478Q|NISCH_ENST00000420808.2_Missense_Mutation_p.R478Q			Q9Y2I1	NISCH_HUMAN	nischarin			33				Tizanidine(DB00697)	GAAGACTCCCGGCTCTCAGCT	0.637000																								0							SO:0001583	missense			ENST00000479054.1	0	1	hg19	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291776	0.59976	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.08008	3.14;3.14;3.19;3.15	5.7	4.82	0.62117	.	0.218004	0.38837	N	0.001547	T	0.14874	0.0359	L	0.32530	0.975	0.33533	D	0.593874	D;B	0.76494	0.999;0.123	P;B	0.61275	0.886;0.008	T	0.17228	-1.0376	10	0.31617	T	0.26	-24.7556	11.7287	0.51724	0.1419:0.0:0.8581:0.0	.	478;478	Q9Y2I1;C9J715	NISCH_HUMAN;.	Q	478	ENSP00000418232:R478Q;ENSP00000339958:R478Q;ENSP00000417812:R478Q;ENSP00000392484:R478Q	ENSP00000339958:R478Q	R	+	2	0	NISCH	52489256	1.000000	0.71417	0.990000	0.47175	0.061000	0.15899	2.423000	0.44705	1.424000	0.47217	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	0	0	0	13	615	0	114	1	9.107201e-01	5	196	0	114	2		0	0	0	0	0	2	1	9.994745e-01	13	603	0	114	2								-2.827416	1	1	121412	4	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.250000	0.130000	1.000000	0.250000	0.302222	0.250000	0	1.800000e-01	3.500000e-01
NISCH	11188	broad.mit.edu	37	3	52521339	52521339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521339C>T	ENST00000479054.1	+	17	1903	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	NISCH_ENST00000345716.4_Missense_Mutation_p.R611W			Q9Y2I1	NISCH_HUMAN	nischarin			33				Tizanidine(DB00697)	CACACTGATCCGGCAGGCCAT	0.647000																								0							SO:0001583	missense			ENST00000479054.1	1	1	hg19	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712228	0.30322	.	.	ENSG00000010322	ENST00000479054;ENST00000345716	T;T	0.08370	3.1;3.1	5.57	3.62	0.41486	.	0.591513	0.17374	N	0.176564	T	0.09686	0.0238	N	0.19112	0.55	0.30804	N	0.739515	D	0.89917	1.0	P	0.58577	0.841	T	0.10497	-1.0627	10	0.52906	T	0.07	-16.6294	3.0479	0.06160	0.1943:0.5162:0.1954:0.0941	.	611	Q9Y2I1	NISCH_HUMAN	W	611	ENSP00000418232:R611W;ENSP00000339958:R611W	ENSP00000339958:R611W	R	+	1	2	NISCH	52496379	0.980000	0.34600	0.997000	0.53966	0.030000	0.12068	1.052000	0.30429	1.372000	0.46190	-0.145000	0.13849	CGG		TCGA-IB-7651-01A-11D-2154-08	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	1	0	1	105	508	0	80	1	9.999996e-01	11	90	0	80	2		0	0	0	0	0	2	1	1	104	502	0	78	2								-2.659169	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NISCH	11188	broad.mit.edu	37	3	52521711	52521711	+	Missense_Mutation	SNP	G	G	A	rs145748458	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521711G>A	ENST00000479054.1	+	17	2275	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	NISCH_ENST00000345716.4_Missense_Mutation_p.G735S			Q9Y2I1	NISCH_HUMAN	nischarin			33				Tizanidine(DB00697)	CACCGACTTCGGCATCGCAGT	0.617000																								0							SO:0001583	missense			ENST00000479054.1	1	1	hg19	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044219	0.36085	0.0	6.98E-4	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.06528	3.29;3.29	5.3	5.3	0.74995	.	0.201961	0.41294	D	0.000916	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	P	0.40107	0.703	B	0.23716	0.048	T	0.49153	-0.8969	10	0.16420	T	0.52	-33.4656	9.2809	0.37727	0.0755:0.2673:0.6572:0.0	.	735	Q9Y2I1	NISCH_HUMAN	S	735;735;79	ENSP00000418232:G735S;ENSP00000339958:G735S	ENSP00000339958:G735S	G	+	1	0	NISCH	52496751	0.976000	0.34144	0.990000	0.47175	0.906000	0.53458	2.376000	0.44292	2.499000	0.84300	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	1	0	0	18	405	0	66	1	9.470383e-01	3	110	0	66	2		0	0	0	0	0	2	1	9.999784e-01	17	395	0	66	2								-2.933293	1	1	121412	31	48	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.510000	0.310000	1.000000	0.500000	0.549759	0.510000	0	4.000000e-01	6.700000e-01
NISCH	11188	broad.mit.edu	37	3	52521950	52521950	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521950G>A	ENST00000479054.1	+	17	2514	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	NISCH_ENST00000345716.4_Silent_p.Q814Q			Q9Y2I1	NISCH_HUMAN	nischarin			33				Tizanidine(DB00697)	TTGCACCCCAGCACATGGCCA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000479054.1	1	1	hg19	CCDS33767.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	1	0	1	44	154	0	35	1	1	10	127	0	35	2		0	0	0	0	0	2	1	1	43	150	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NISCH	11188	broad.mit.edu	37	3	52526255	52526255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52526255G>A	ENST00000479054.1	+	22	4344	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q	NISCH_ENST00000345716.4_Silent_p.Q1424Q			Q9Y2I1	NISCH_HUMAN	nischarin			33				Tizanidine(DB00697)	TGGGCTACCAGACCTACCCGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000479054.1	1	1	hg19	CCDS33767.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	0	0	1	237	928	1	194	1	1	21	100	1	194	4		0	0	0	0	0	2	1	1	235	918	1	191	20								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52538065	52538065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52538065G>T	ENST00000321725.6	+	10	1120	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					GGGAAAGCGAGGTGGGGGATG	0.711000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688096	0.29962	.	.	ENSG00000010327	ENST00000321725	T	0.20069	2.1	4.7	2.85	0.33270	FAS1 domain (1);	0.144064	0.46758	D	0.000268	T	0.31482	0.0798	M	0.66939	2.045	0.33620	D	0.604698	P;D	0.56746	0.943;0.977	P;P	0.55749	0.459;0.783	T	0.44436	-0.9328	10	0.46703	T	0.11	.	6.6079	0.22735	0.2166:0.0:0.7834:0.0	.	348;348	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	D	348	ENSP00000312946:E348D	ENSP00000312946:E348D	E	+	3	2	STAB1	52513105	1.000000	0.71417	0.994000	0.49952	0.597000	0.36814	1.692000	0.37731	1.101000	0.41535	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	19	56	0	14	0	9.997811e-01	0	47	0	14	2		0	0	0	0	0	2	1	9.999968e-01	19	56	0	14	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52539356	52539356	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52539356G>A	ENST00000321725.6	+	14	1616	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					ACAGATCCTCGCCTCTACCGA	0.622000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134423	0.56828	.	.	ENSG00000010327	ENST00000321725	T	0.72394	-0.65	5.36	4.47	0.54385	FAS1 domain (3);	0.220722	0.36740	N	0.002428	T	0.71290	0.3322	L	0.50993	1.605	0.37281	D	0.90782	B;D	0.61697	0.394;0.99	B;P	0.51297	0.078;0.665	T	0.73895	-0.3838	10	0.34782	T	0.22	.	12.5123	0.56013	0.0:0.0:0.8324:0.1676	.	514;514	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	T	514	ENSP00000312946:A514T	ENSP00000312946:A514T	A	+	1	0	STAB1	52514396	0.997000	0.39634	0.855000	0.33649	0.462000	0.32619	3.469000	0.53093	1.236000	0.43740	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	35	137	0	41	0	9.997233e-01	0	53	0	41	2		0	0	0	0	0	2	1	1	35	136	0	41	2								-20.000000	1	1	121382	1	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52540865	52540865	+	Splice_Site	SNP	C	C	T	rs150932374	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52540865C>T	ENST00000321725.6	+	18	2064	c.1988C>T	c.(1987-1989)gCg>gTg	p.A663V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					AAGATTGTGGCGGTGAGCCTC	0.647000																								0							SO:0001630	splice_region_variant			ENST00000321725.6	1	0	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375587	0.24857	.	.	ENSG00000010327	ENST00000321725	D	0.84730	-1.89	4.43	-7.21	0.01490	.	1.696930	0.03084	N	0.158847	T	0.68668	0.3026	N	0.14661	0.345	0.80722	D	1	B;B	0.12630	0.001;0.006	B;B	0.08055	0.0;0.003	T	0.43861	-0.9365	10	0.13470	T	0.59	.	8.5153	0.33242	0.1101:0.2287:0.0:0.6612	.	663;663	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	663	ENSP00000312946:A663V	ENSP00000312946:A663V	A	+	2	0	STAB1	52515905	0.000000	0.05858	0.003000	0.11579	0.061000	0.15899	-2.219000	0.01218	-1.598000	0.01607	-0.448000	0.05591	GCG		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	67	264	0	55	0	9.999791e-01	0	65	0	55	2		0	0	0	0	0	2	1	1	65	253	0	53	2								-1.495495	0	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52542317	52542317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52542317G>A	ENST00000321725.6	+	21	2253	c.2177G>A	c.(2176-2178)gGg>gAg	p.G726E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					GGTTTTTTCGGGCCTGACTGC	0.582000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027530	0.93518	.	.	ENSG00000010327	ENST00000321725	D	0.87029	-2.2	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95629	0.8579	M	0.94142	3.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96418	0.9309	10	0.87932	D	0	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	726;726	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	726	ENSP00000312946:G726E	ENSP00000312946:G726E	G	+	2	0	STAB1	52517357	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.247000	0.89830	2.697000	0.92050	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	72	362	0	82	0	9.997409e-01	0	63	0	82	2		0	0	0	0	0	2	1	1	70	356	0	83	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52543325	52543325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52543325C>T	ENST00000321725.6	+	22	2411	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					GCATGGAGAGCAATGCCAGGA	0.577000																								0							SO:0001587	stop_gained			ENST00000321725.6	0	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	36	5.697297	0.96802	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.57	4.68	0.58851	.	0.551778	0.18049	N	0.153326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.8752	0.35340	0.2981:0.5574:0.1445:0.0	.	.	.	.	X	779	.	ENSP00000312946:Q779X	Q	+	1	0	STAB1	52518365	0.995000	0.38212	0.954000	0.39281	0.441000	0.31987	4.142000	0.58044	1.316000	0.45131	0.561000	0.74099	CAA		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	31	150	0	44	0	9.999674e-01	0	82	0	44	2		0	0	0	0	0	2	1	1	30	147	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52550718	52550718	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52550718G>A	ENST00000321725.6	+	41	4373	c.4297G>A	c.(4297-4299)Gac>Aac	p.D1433N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					CTGCGTGCAGGACTCGGCCGG	0.682000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541032	0.00934	.	.	ENSG00000010327	ENST00000321725	T	0.02944	4.1	4.51	1.36	0.22044	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.333636	0.30979	N	0.008492	T	0.01940	0.0061	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.49995	-0.8879	10	0.02654	T	1	.	7.1225	0.25453	0.3219:0.0:0.6781:0.0	.	1433	Q9NY15	STAB1_HUMAN	N	1433	ENSP00000312946:D1433N	ENSP00000312946:D1433N	D	+	1	0	STAB1	52525758	0.005000	0.15991	0.098000	0.21074	0.164000	0.22412	1.182000	0.32029	0.033000	0.15463	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	33	133	0	35	0	9.999956e-01	0	83	0	35	2		0	0	0	0	0	2	1	1	32	130	0	35	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52554039	52554039	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52554039G>A	ENST00000321725.6	+	51	5391	c.5315G>A	c.(5314-5316)cGa>cAa	p.R1772Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					GCCGCCTTTCGAGCTCTGCCT	0.627000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196156	0.01594	0.0	1.16E-4	ENSG00000010327	ENST00000321725	D	0.89617	-2.54	5.67	-8.25	0.01025	FAS1 domain (5);	1.077420	0.07224	N	0.861373	T	0.71056	0.3295	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.65747	-0.6093	10	0.02654	T	1	.	18.2521	0.90007	0.3326:0.0:0.6674:0.0	.	1772	Q9NY15	STAB1_HUMAN	Q	1772	ENSP00000312946:R1772Q	ENSP00000312946:R1772Q	R	+	2	0	STAB1	52529079	0.000000	0.05858	0.023000	0.16930	0.012000	0.07955	-0.792000	0.04594	-1.389000	0.02090	-1.008000	0.02478	CGA		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	36	224	0	61	0	9.999681e-01	0	101	0	61	2		0	0	0	0	0	2	1	1	34	219	0	61	2								-3.224442	1	1	121332	4	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999905	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52556666	52556666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556666G>A	ENST00000321725.6	+	61	6782	c.6706G>A	c.(6706-6708)Gtc>Atc	p.V2236I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					ACAGGGAGCCGTCCTTGCTTC	0.617000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660584	0.47572	0.0	2.33E-4	ENSG00000010327	ENST00000321725	T	0.30714	1.52	5.85	4.93	0.64822	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.903033	0.09601	N	0.780141	T	0.31040	0.0784	L	0.39514	1.22	0.09310	N	1	P;D	0.54772	0.862;0.968	B;P	0.45971	0.176;0.499	T	0.09530	-1.0670	10	0.39692	T	0.17	.	10.4845	0.44713	0.0728:0.1362:0.791:0.0	.	123;2236	B3KSK0;Q9NY15	.;STAB1_HUMAN	I	2236	ENSP00000312946:V2236I	ENSP00000312946:V2236I	V	+	1	0	STAB1	52531706	0.000000	0.05858	0.269000	0.24586	0.376000	0.30014	0.803000	0.27083	2.771000	0.95319	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	120	489	0	103	0	1	0	117	0	103	2		0	0	0	0	0	2	1	1	120	480	0	101	2								-3.573391	1	1	121400	5	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52556948	52556948	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556948G>A	ENST00000321725.6	+	62	6978	c.6902G>A	c.(6901-6903)cGt>cAt	p.R2301H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					TACTGCTTCCGTGTGCAAGGT	0.602000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.1	4.496293	0.85069	.	.	ENSG00000010327	ENST00000321725	T	0.31769	1.48	5.64	5.64	0.86602	C-type lectin fold (1);Link (2);C-type lectin-like (1);FAS1 domain (1);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.86178	2.8	0.49687	D	0.999818	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.67461	-0.5665	10	0.72032	D	0.01	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	188;2301	B3KSK0;Q9NY15	.;STAB1_HUMAN	H	2301	ENSP00000312946:R2301H	ENSP00000312946:R2301H	R	+	2	0	STAB1	52531988	1.000000	0.71417	0.957000	0.39632	0.783000	0.44284	5.696000	0.68287	2.661000	0.90470	0.486000	0.48141	CGT		TCGA-IB-7651-01A-11D-2154-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	78	399	0	96	0	1	0	141	0	96	2		0	0	0	0	0	2	1	1	76	392	0	96	2								-20.000000	1	1	121408	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NT5DC2	64943	broad.mit.edu	37	3	52558576	52558576	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52558576C>T	ENST00000307076.4	-	14	1873	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000459839.1_Silent_p.P503P|NT5DC2_ENST00000422318.2_Silent_p.P528P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2			6					CGTGCTGCAGCGGCGTACGGC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000307076.4	1	1	hg19	CCDS2858.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	1	0	1	83	393	0	80	1	1	45	263	0	80	2		0	0	0	0	0	2	1	1	81	388	0	80	2								-3.260414	1	1	121362	3	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NT5DC2	64943	broad.mit.edu	37	3	52561315	52561315	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52561315G>A	ENST00000307076.4	-	10	1403	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2			6					CTTACCTGCCGATAGATCTTG	0.592000																								0							SO:0001583	missense			ENST00000307076.4	1	1	hg19	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.133453|4.133453	0.77662|0.77662	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839|ENST00000489316	T;T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92;1.92|.	5.45|5.45	5.45|5.45	0.79879|0.79879	HAD-like domain (2);|.	0.052775|.	0.64402|.	D|.	0.000001|.	T|T	0.52661|0.52661	0.1748|0.1748	L|L	0.40543|0.40543	1.245|1.245	0.35708|0.35708	D|D	0.816193|0.816193	D;D;D|.	0.57899|.	0.981;0.981;0.981|.	P;B;B|.	0.56788|.	0.806;0.401;0.401|.	T|T	0.59037|0.59037	-0.7529|-0.7529	10|5	0.38643|.	T|.	0.18|.	-25.4436|-25.4436	12.4633|12.4633	0.55743|0.55743	0.0:0.0:0.7183:0.2817|0.0:0.0:0.7183:0.2817	.|.	347;335;372|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	W|L	276;49;335;372;347|256	ENSP00000306017:R276W;ENSP00000418780:R49W;ENSP00000302468:R335W;ENSP00000406933:R372W;ENSP00000419547:R347W|.	ENSP00000302468:R335W|.	R|S	-|-	1|2	2|0	NT5DC2|NT5DC2	52536355|52536355	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.907000|0.907000	0.53573|0.53573	4.461000|4.461000	0.60115|0.60115	2.580000|2.580000	0.87095|0.87095	0.555000|0.555000	0.69702|0.69702	CGG|TCG		TCGA-IB-7651-01A-11D-2154-08	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	1	0	1	33	185	0	49	1	1	51	291	0	49	2		0	0	0	0	0	2	1	1	33	181	0	47	2								-3.159335	1	1	121396	2	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
NT5DC2	64943	broad.mit.edu	37	3	52568642	52568642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52568642C>A	ENST00000307076.4	-	1	428	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SMIM4_ENST00000477703.1_5'Flank|NT5DC2_ENST00000307092.4_5'Flank|NT5DC2_ENST00000459839.1_5'Flank|SMIM4_ENST00000482728.1_3'UTR|NT5DC2_ENST00000422318.2_5'Flank|SMIM4_ENST00000307106.3_5'Flank|NT5DC2_ENST00000490681.1_5'Flank|SMIM4_ENST00000476842.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2			6					ATTCCTCTTTCCTGCGCAGAA	0.592000																								0							SO:0001587	stop_gained			ENST00000307076.4	0	1	hg19	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477394	0.84640	.	.	ENSG00000168268	ENST00000307076	.	.	.	3.04	-1.54	0.08584	.	6.254030	0.01781	U	0.031789	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.7943	0.23717	0.0:0.3955:0.0:0.6045	.	.	.	.	X	10	.	ENSP00000302468:E10X	E	-	1	0	NT5DC2	52543682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.461000	0.02366	-0.387000	0.07809	-0.253000	0.11424	GAA		TCGA-IB-7651-01A-11D-2154-08	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	1	0	0	219	823	0	166	0	9.297707e-01	0	19	0	166	2		0	0	0	0	0	2	1	1	213	811	0	165	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EDEM1	9695	broad.mit.edu	37	3	5257520	5257520	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5257520C>T	ENST00000256497.4	+	12	2024	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1			22					CTAGTGCAATCGTGTACCTGA	0.443000																								0							SO:0001583	missense			ENST00000256497.4	1	1	hg19	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805026	0.70682	.	.	ENSG00000134109	ENST00000256497	D	0.83755	-1.76	5.25	5.25	0.73442	.	0.097082	0.64402	D	0.000002	T	0.80649	0.4663	L	0.56769	1.78	0.80722	D	1	D	0.61697	0.99	B	0.43575	0.424	T	0.83158	-0.0100	10	0.66056	D	0.02	-13.5861	12.0944	0.53747	0.2923:0.7077:0.0:0.0	.	631	Q92611	EDEM1_HUMAN	C	631	ENSP00000256497:R631C	ENSP00000256497:R631C	R	+	1	0	EDEM1	5232520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.814000	0.48010	2.449000	0.82847	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	1	0	1	66	298	0	75	1	1	22	134	0	75	2		0	0	0	0	0	2	1	1	65	294	0	75	2								-20.000000	1	1	121412	1	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PBRM1	55193	broad.mit.edu	37	3	52620542	52620542	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52620542G>A	ENST00000296302.7	-	20	3287	c.3286C>T	c.(3286-3288)Cgc>Tgc	p.R1096C	PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R1064C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C			Q86U86	PB1_HUMAN	polybromo 1			335					GAGGCCACGCGAACCACAGGC	0.438000			Mis, N, F, S, D, O		clear cell renal carcinoma, breast										Rec	yes		3	3p21	55193	polybromo 1		E	0							SO:0001583	missense			ENST00000296302.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.01	3.743073	0.69418	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.52754	0.8;0.68;0.83;0.83;0.81;0.71;1.27;0.84;0.8;0.65	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.52905	1.665	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.995;0.992;0.995;0.989;0.997;0.995;0.995;0.993	T	0.66803	-0.5831	10	0.87932	D	0	-27.3744	15.1515	0.72703	0.0:0.0:0.8583:0.1417	.	1071;1095;1071;1096;1111;1111;1096;1064;1096	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	1064;1071;1096;1096;1096;1071;1111;1111;1095;1054	ENSP00000349213:R1064C;ENSP00000378307:R1071C;ENSP00000296302:R1096C;ENSP00000338302:R1096C;ENSP00000386593:R1096C;ENSP00000386529:R1071C;ENSP00000386643:R1111C;ENSP00000386601:R1111C;ENSP00000387775:R1095C;ENSP00000397662:R1054C	ENSP00000296302:R1096C	R	-	1	0	PBRM1	52595582	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.608000	0.74168	2.493000	0.84123	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	1	0	1	127	470	0	115	1	9.971652e-01	6	29	0	115	2	1	1	238	1070	0	1277	2	1	1	125	462	0	115	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PBRM1	55193	broad.mit.edu	37	3	52637690	52637690	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52637690G>A	ENST00000296302.7	-	17	2627	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R844C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C			Q86U86	PB1_HUMAN	polybromo 1			335					AGTTCATCACGAATTTTAATA	0.353000			Mis, N, F, S, D, O		clear cell renal carcinoma, breast										Rec	yes		3	3p21	55193	polybromo 1		E	0							SO:0001583	missense			ENST00000296302.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.4	4.149176	0.78001	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.60920	0.16;0.2;0.15;0.16;0.17;0.17;0.63;0.17;0.21;0.28	5.72	5.72	0.89469	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.80529	-0.1342	10	0.87932	D	0	-20.1551	20.2504	0.98404	0.0:0.0:1.0:0.0	.	876;876;876;876;891;891;876;844;876	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	C	844;876;876;876;876;876;891;891;876;835	ENSP00000349213:R844C;ENSP00000378307:R876C;ENSP00000296302:R876C;ENSP00000338302:R876C;ENSP00000386593:R876C;ENSP00000386529:R876C;ENSP00000386643:R891C;ENSP00000386601:R891C;ENSP00000387775:R876C;ENSP00000397662:R835C	ENSP00000296302:R876C	R	-	1	0	PBRM1	52612730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.236000	0.51336	2.850000	0.98022	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	1	0	1	30	159	0	34	0	9.844220e-01	1	37	0	34	2	1	1	154	621	0	566	2	1	1	30	158	0	34	2								-16.860620	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
ITIH1	3697	broad.mit.edu	37	3	52814339	52814339	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52814339T>G	ENST00000273283.2	+	6	652	c.628T>G	c.(628-630)Tct>Gct	p.S210A	ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1			52					TGCCCAGGCCTCTTTCCTGCC	0.483000																								0							SO:0001583	missense			ENST00000273283.2	1	1	hg19	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360543	0.61403	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02369	4.32;4.84;4.72	6.07	-4.65	0.03339	.	0.193262	0.53938	D	0.000043	T	0.03827	0.0108	M	0.69823	2.125	0.80722	D	1	B	0.30542	0.284	B	0.36845	0.234	T	0.33111	-0.9881	10	0.66056	D	0.02	-15.0808	4.8638	0.13598	0.3522:0.3161:0.0:0.3317	.	210	P19827	ITIH1_HUMAN	A	210;210;68	ENSP00000442584:S210A;ENSP00000273283:S210A;ENSP00000443973:S68A	ENSP00000273283:S210A	S	+	1	0	ITIH1	52789379	0.887000	0.30362	0.992000	0.48379	0.710000	0.40934	0.402000	0.20965	-0.299000	0.08909	-0.274000	0.10170	TCT		TCGA-IB-7651-01A-11D-2154-08	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	1	0	1	33	134	0	35	0	0	0	1	0	35	2		0	0	0	0	0	2	1	1	33	129	0	33	2								-19.915880	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITIH3	3699	broad.mit.edu	37	3	52830660	52830660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52830660C>T	ENST00000449956.2	+	3	284	c.278C>T	c.(277-279)aCc>aTc	p.T93I	ITIH3_ENST00000416872.2_Missense_Mutation_p.T93I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3			25					ACCAACTTCACCTTGTGGGTA	0.582000																								0							SO:0001583	missense			ENST00000449956.2	0	1	hg19	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062182	0.76187	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.23950	1.88;1.88	4.79	4.79	0.61399	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.047355	0.85682	D	0.000000	T	0.40719	0.1128	L	0.45470	1.425	0.43242	D	0.995154	D;P	0.61080	0.989;0.902	P;P	0.61003	0.882;0.716	T	0.20739	-1.0266	10	0.66056	D	0.02	-28.0532	14.8603	0.70376	0.0:1.0:0.0:0.0	.	93;93	E7ET33;Q06033	.;ITIH3_HUMAN	I	93;93;88;93;93	ENSP00000413922:T93I;ENSP00000415769:T93I	ENSP00000273291:T88I	T	+	2	0	ITIH3	52805700	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.596000	0.36718	2.478000	0.83669	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	0	0	0	4	107	0	22	0	6.702983e-03	0	3	0	22	2		0	0	0	0	0	2	1	8.873997e-01	4	105	0	22	2								-7.501455	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.480000	0.160000	1.000000	1.000000	0.526188	0.480000	0	2.900000e-01	7.800000e-01
ITIH3	3699	broad.mit.edu	37	3	52831234	52831234	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52831234A>G	ENST00000449956.2	+	5	506	c.500A>G	c.(499-501)tAc>tGc	p.Y167C	ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3			25					AAGGGCAAGTACGAGATGTAC	0.562000																								0							SO:0001583	missense			ENST00000449956.2	0	1	hg19	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353441	0.82243	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.04156	3.69;4.24	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.91561	3.22	0.49389	D	0.999783	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.08411	-1.0723	10	0.72032	D	0.01	-27.3236	13.0967	0.59197	1.0:0.0:0.0:0.0	.	167;167	E7ET33;Q06033	.;ITIH3_HUMAN	C	167;155;162;167;167	ENSP00000413922:Y167C;ENSP00000415769:Y167C	ENSP00000273291:Y162C	Y	+	2	0	ITIH3	52806274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.287000	0.72671	2.279000	0.76181	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	1	0	0	6	67	0	20	0	2.717703e-02	0	3	0	20	2		0	0	0	0	0	2	1	9.656645e-01	6	66	0	20	2								-11.446650	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.430000	1.000000	1.000000	0.879640	0.990000	1	6.700000e-01	1
TMEM110	375346	broad.mit.edu	37	3	52877754	52877754	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877754C>T	ENST00000355083.5	-	6	746	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V201I|TMEM110_ENST00000464769.1_5'Flank	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110			4					AAGAAGGGGACGATCAGCATG	0.507000																								0							SO:0001583	missense			ENST00000355083.5	0	1	hg19	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473451	0.84640	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	5.31	0.75309	.	0.145281	0.45126	U	0.000381	T	0.66790	0.2825	L	0.39692	1.235	0.80722	D	1	P;D	0.76494	0.797;0.999	B;D	0.79784	0.194;0.993	T	0.58752	-0.7581	9	0.09843	T	0.71	-14.7227	18.9788	0.92747	0.0:1.0:0.0:0.0	.	201;201	Q86TL2;A8MSY1	TM110_HUMAN;.	I	201	.	ENSP00000347195:V201I	V	-	1	0	TMEM110-MUSTN1;TMEM110	52852794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.491000	0.84063	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	0	0	0	10	434	0	137	1	7.804074e-01	2	124	0	137	2		0	0	0	0	0	2	1	9.963337e-01	9	419	0	137	2								-3.028101	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.280000	0.140000	1.000000	0.260000	0.328445	0.280000	0	2.000000e-01	4.000000e-01
TMEM110	375346	broad.mit.edu	37	3	52877775	52877775	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877775G>T	ENST00000355083.5	-	6	725	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M|TMEM110_ENST00000464769.1_5'Flank	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110			4					ACGATGGCCAGCTTCAAGTCT	0.532000																								0							SO:0001583	missense			ENST00000355083.5	1	0	hg19	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328120	0.81690	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	4.44	0.53790	.	0.000000	0.64402	U	0.000003	T	0.81074	0.4747	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84463	0.0595	9	0.72032	D	0.01	-7.9897	14.0255	0.64584	0.073:0.0:0.927:0.0	.	194;194	Q86TL2;A8MSY1	TM110_HUMAN;.	M	194	.	ENSP00000347195:L194M	L	-	1	2	TMEM110-MUSTN1;TMEM110	52852815	0.998000	0.40836	0.993000	0.49108	0.994000	0.84299	2.107000	0.41844	1.242000	0.43836	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	1	0	0	79	340	0	135	1	1	31	94	0	135	2		0	0	0	0	0	2	1	1	76	331	0	135	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFMBT1	51460	broad.mit.edu	37	3	52955765	52955765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52955765G>A	ENST00000394752.3	-	11	1596	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I|SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1			24					TGCAGTGATGGTAGCAACACA	0.493000																								0							SO:0001583	missense			ENST00000394752.3	1	1	hg19	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333359	0.81801	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.43	5.43	0.79202	.	0.053289	0.85682	D	0.000000	T	0.77968	0.4210	M	0.93720	3.45	0.58432	D	0.999999	P;D	0.57257	0.948;0.979	P;P	0.58660	0.66;0.843	T	0.83142	-0.0108	10	0.62326	D	0.03	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	405;405	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	I	405	ENSP00000378235:T405I;ENSP00000350789:T405I;ENSP00000296295:T405I;ENSP00000378233:T405I	ENSP00000296295:T405I	T	-	2	0	SFMBT1	52930805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.972000	0.56838	2.824000	0.97209	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	1	0	1	181	780	0	240	1	9.809487e-01	7	22	0	240	2		0	0	0	0	0	2	1	1	178	768	0	237	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKCD	5580	broad.mit.edu	37	3	53220225	53220225	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220225A>G	ENST00000394729.2	+	12	1457	c.1129A>G	c.(1129-1131)Atc>Gtc	p.I377V	PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta			26		Ovarian(412;0.0728)		Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTACTTTGCCATCAAGGCCCT	0.597000																								0							SO:0001583	missense			ENST00000394729.2	1	1	hg19	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.23147	1.92;1.92	5.15	-5.74	0.02391	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.337088	0.34853	N	0.003637	T	0.10594	0.0259	N	0.12611	0.24	0.25272	N	0.989504	B	0.10296	0.003	B	0.12837	0.008	T	0.24584	-1.0156	10	0.06099	T	0.92	.	16.4546	0.84008	0.4405:0.0:0.5595:0.0	.	377	Q05655	KPCD_HUMAN	V	377	ENSP00000378217:I377V;ENSP00000331602:I377V	ENSP00000331602:I377V	I	+	1	0	PRKCD	53195265	0.000000	0.05858	0.005000	0.12908	0.697000	0.40408	-0.023000	0.12456	-1.520000	0.01773	-1.431000	0.01090	ATC		TCGA-IB-7651-01A-11D-2154-08	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	1	0	0	9	185	0	42	1	9.992630e-01	21	264	0	42	2		0	0	0	0	0	2	1	9.933922e-01	8	178	0	42	2								-11.731920	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.580000	0.280000	1.000000	1.000000	0.610042	0.580000	0	4.100000e-01	8.200000e-01
PRKCD	5580	broad.mit.edu	37	3	53220652	53220652	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220652C>T	ENST00000394729.2	+	13	1621	c.1293C>T	c.(1291-1293)aaC>aaT	p.N431N	PRKCD_ENST00000330452.3_Silent_p.N431N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta			26		Ovarian(412;0.0728)		Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGTTCCTCAACGGGGGGGACC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000394729.2	1	0	hg19	CCDS2870.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	1	0	0	268	1329	0	385	1	1	56	151	0	385	2		0	0	0	0	0	2	1	1	263	1291	0	383	2								-2.101553	0	1	121412	7	45	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TKT	7086	broad.mit.edu	37	3	53265481	53265481	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265481G>A	ENST00000462138.1	-	7	922	c.834C>T	c.(832-834)atC>atT	p.I278I	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I286I|TKT_ENST00000423525.2_Silent_p.I278I|TKT_ENST00000296289.6_Silent_p.I231I			P29401	TKT_HUMAN	transketolase			17		Prostate(884;0.0959)			TTTTGCTCTGGATCTGGCTGT	0.552000													Colon(133;1506 2347 35238 42177)											0							SO:0001819	synonymous_variant			ENST00000462138.1	1	1	hg19	CCDS2871.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1	1	0	1	51	223	0	63	1	1	282	598	0	63	2		0	0	0	0	0	2	1	1	49	218	0	63	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TKT	7086	broad.mit.edu	37	3	53265548	53265548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265548G>T	ENST00000462138.1	-	7	855	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y|TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000296289.6_Missense_Mutation_p.S209Y			P29401	TKT_HUMAN	transketolase			17		Prostate(884;0.0959)			CCCATGCCAAGACTCCTTATC	0.562000													Colon(133;1506 2347 35238 42177)											0							SO:0001583	missense			ENST00000462138.1	1	1	hg19	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	4.436	0.080646	0.08533	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.69	2.94	0.34122	Transketolase, N-terminal (1);	1.130530	0.06411	N	0.720678	T	0.39911	0.1096	M	0.70842	2.15	0.09310	N	1	P;B;B	0.36354	0.549;0.014;0.014	B;B;B	0.43478	0.421;0.043;0.027	T	0.37572	-0.9700	10	0.72032	D	0.01	-11.315	4.1666	0.10310	0.0692:0.2428:0.3554:0.3326	.	264;173;256	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	Y	256;256;264;209;90	ENSP00000417773:S256Y;ENSP00000405455:S256Y;ENSP00000391481:S264Y;ENSP00000296289:S209Y	ENSP00000296289:S209Y	S	-	2	0	TKT	53240588	0.959000	0.32827	0.268000	0.24571	0.036000	0.12997	1.633000	0.37113	0.346000	0.23899	-0.122000	0.15005	TCT		TCGA-IB-7651-01A-11D-2154-08	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1	1	0	1	38	197	0	38	1	1	318	694	0	38	2		0	0	0	0	0	2	1	1	36	195	0	38	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CACNA1D	776	broad.mit.edu	37	3	53529248	53529248	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53529248G>A	ENST00000350061.5	+	1	566	c.55G>A	c.(55-57)Gac>Aac	p.D19N	CACNA1D_ENST00000288139.4_Missense_Mutation_p.D19N|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit			90				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCAAGCGGACCACGCGAA	0.587000																								0							SO:0001583	missense			ENST00000350061.5	1	1	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014042	0.75161	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.95853	-3.81;-3.83;-3.83	4.12	4.12	0.48240	.	.	.	.	.	D	0.89684	0.6786	N	0.22421	0.69	0.80722	D	1	B;B;B	0.30889	0.198;0.198;0.299	B;B;B	0.23574	0.021;0.021;0.047	D	0.87873	0.2672	9	0.35671	T	0.21	.	12.0575	0.53544	0.0:0.0:1.0:0.0	.	19;19;19	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	N	19	ENSP00000288133:D19N;ENSP00000288139:D19N;ENSP00000409174:D19N	ENSP00000288139:D19N	D	+	1	0	CACNA1D	53504288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.692000	0.47018	2.286000	0.76751	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	0	0	0	26	562	0	118	0	1.957342e-02	0	5	0	118	2		0	0	0	0	0	2	1	9.999999e-01	26	553	0	116	2								-4.810965	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.530000	0.350000	1.000000	0.520000	0.563047	0.530000	0	4.300000e-01	6.600000e-01
CACNA1D	776	broad.mit.edu	37	3	53684805	53684805	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53684805G>T	ENST00000350061.5	+	4	994		c.e4-1		CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit			90				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTCTTCACAGGAAAAAGTAG	0.358000																								0							SO:0001630	splice_region_variant			ENST00000350061.5	1	1	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.393114	0.83011	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2711	0.90069	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53659845	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.647000	0.98478	2.545000	0.85829	0.436000	0.28706	.		TCGA-IB-7651-01A-11D-2154-08	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	1	0	1	52	360	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	51	348	0	69	2								-2.966632	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999916	0.990000	1	9.900000e-01	1
CACNA1D	776	broad.mit.edu	37	3	53699719	53699719	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53699719G>A	ENST00000350061.5	+	6	1310	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.A267T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit			90				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATTATAAAAGCCATGGTTCC	0.333000																								0							SO:0001583	missense			ENST00000350061.5	1	1	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234915	0.95207	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98512	-4.97;-4.97;-4.97	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98982	0.9653	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.996	D	0.99819	1.1046	10	0.87932	D	0	.	18.6572	0.91458	0.0:0.0:1.0:0.0	.	267;267;267	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	T	267	ENSP00000288133:A267T;ENSP00000288139:A267T;ENSP00000409174:A267T	ENSP00000288139:A267T	A	+	1	0	CACNA1D	53674759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.630000	0.89119	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	1	0	1	83	455	0	124	0	5.269080e-01	0	11	0	124	2		0	0	0	0	0	2	1	1	81	450	0	124	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1D	776	broad.mit.edu	37	3	53700441	53700441	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53700441A>C	ENST00000350061.5	+	7	1506	c.995A>C	c.(994-996)gAa>gCa	p.E332A	CACNA1D_ENST00000288139.4_Missense_Mutation_p.E332A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit			90				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AATGGCACGGAATGTAGGAGT	0.527000																								0							SO:0001583	missense			ENST00000350061.5	1	1	hg19	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.30|15.30	2.791494|2.791494	0.50102|0.50102	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478|ENST00000481085	D;D;D;D|.	0.96200|.	-3.91;-3.94;-3.93;-3.91|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Ion transport (1);|.	0.157207|.	0.44902|.	D|.	0.000420|.	T|T	0.71660|0.71660	0.3366|0.3366	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	P;B;B|.	0.36837|.	0.571;0.068;0.321|.	P;B;B|.	0.46208|.	0.507;0.102;0.281|.	T|T	0.72603|0.72603	-0.4243|-0.4243	10|5	0.32370|.	T|.	0.25|.	.|.	10.5953|10.5953	0.45333|0.45333	0.8565:0.0:0.0:0.1435|0.8565:0.0:0.0:0.1435	.|.	332;332;332|.	B0FYA3;Q01668;Q01668-2|.	.;CAC1D_HUMAN;.|.	A|H	332;332;332;5|18	ENSP00000288133:E332A;ENSP00000288139:E332A;ENSP00000409174:E332A;ENSP00000418014:E5A|.	ENSP00000288139:E332A|.	E|N	+|+	2|1	0|0	CACNA1D|CACNA1D	53675481|53675481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.768000|3.768000	0.55295|0.55295	2.215000|2.215000	0.71742|0.71742	0.533000|0.533000	0.62120|0.62120	GAA|AAT		TCGA-IB-7651-01A-11D-2154-08	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	1	0	1	185	904	0	224	0	2.036239e-01	0	5	0	224	2		0	0	0	0	0	2	1	1	177	868	0	203	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1D	776	broad.mit.edu	37	3	53837449	53837449	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53837449G>A	ENST00000350061.5	+	44	5946		c.e44-1		CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit			90				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCAACTGCAGGTCCGACTCA	0.597000																								0							SO:0001630	splice_region_variant			ENST00000350061.5	1	1	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056143	0.76074	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1563	0.81670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53812489	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	8.308000	0.89966	2.318000	0.78349	0.637000	0.83480	.		TCGA-IB-7651-01A-11D-2154-08	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	1	0	1	135	512	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1	130	505	0	151	2								-3.697148	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHDH	55349	broad.mit.edu	37	3	53853618	53853618	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53853618A>C	ENST00000315251.6	-	7	1641	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase			17		Hepatocellular(537;0.152)		Choline(DB00122)	GATGGCAGGAAATGGAACTGG	0.627000																								0							SO:0001583	missense			ENST00000315251.6	1	1	hg19	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744510	0.89663	.	.	ENSG00000016391	ENST00000315251	T	0.46819	0.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.84585	2.705	0.80722	D	1	P	0.52316	0.952	P	0.55965	0.788	T	0.74426	-0.3669	10	0.87932	D	0	-31.5137	15.4005	0.74838	1.0:0.0:0.0:0.0	.	402	Q8NE62	CHDH_HUMAN	V	402	ENSP00000319851:F402V	ENSP00000319851:F402V	F	-	1	0	CHDH	53828658	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.943000	0.92975	2.063000	0.61619	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	1	0	1	81	292	0	75	1	9.999932e-01	34	31	0	75	2		0	0	0	0	0	2	1	1	81	287	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACTR8	93973	broad.mit.edu	37	3	53907062	53907062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53907062C>T	ENST00000335754.3	-	9	1258	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	ACTR8_ENST00000482349.1_Silent_p.L275L|ACTR8_ENST00000231909.7_Silent_p.L91L|ACTR8_ENST00000488802.1_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)			19					AAGTTACCTGCAGTTTTTCAT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000335754.3	1	1	hg19	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	8.541	0.873383	0.17322	.	.	ENSG00000113812	ENST00000486794	.	.	.	6.08	0.688	0.18027	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-18.7611	4.623	0.12465	0.0736:0.3076:0.4198:0.199	.	.	.	.	Y	140	.	.	C	-	2	0	ACTR8	53882102	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	0.989000	0.29629	0.455000	0.26910	-0.203000	0.12734	TGC		TCGA-IB-7651-01A-11D-2154-08	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	1	0	1	14	58	0	25	1	9.999979e-01	20	99	0	25	2		0	0	0	0	0	2	1	9.998249e-01	12	58	0	25	2								-20.000000	1	1	121396	4	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999633	0.990000	1	9.900000e-01	1
ACTR8	93973	broad.mit.edu	37	3	53911410	53911410	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53911410A>G	ENST00000335754.3	-	5	615	c.515T>C	c.(514-516)tTg>tCg	p.L172S	ACTR8_ENST00000482349.1_Missense_Mutation_p.L61S|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)			19					ATTAACATACAAGGCCTAGAA	0.413000																								0							SO:0001583	missense			ENST00000335754.3	1	1	hg19	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392418	0.83011	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	T;T	0.46819	0.86;0.86	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74945	-0.3491	10	0.35671	T	0.21	-0.0941	15.0492	0.71854	1.0:0.0:0.0:0.0	.	172	Q9H981	ARP8_HUMAN	S	172;61;61	ENSP00000336842:L172S;ENSP00000419429:L61S	ENSP00000336842:L172S	L	-	2	0	ACTR8	53886450	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.923000	0.92808	2.288000	0.76882	0.528000	0.53228	TTG		TCGA-IB-7651-01A-11D-2154-08	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	1	0	1	35	175	0	37	1	9.999013e-01	20	54	0	37	2		0	0	0	0	0	2	1	1	34	171	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
CACNA2D3	55799	broad.mit.edu	37	3	54420803	54420803	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:54420803T>C	ENST00000474759.1	+	4	429		c.e4+2		CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3			59				Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GACTTACAGGTAACTGATTAT	0.383000																								0							SO:0001630	splice_region_variant			ENST00000474759.1	1	1	hg19	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049840	0.75846	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.203	0.54337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA2D3	54395843	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.994000	0.63901	2.199000	0.70637	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	1	18	51	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.999902e-01	18	48	0	10	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
CACNA2D3	55799	broad.mit.edu	37	3	55021769	55021769	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55021769C>T	ENST00000474759.1	+	31	2727	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	CACNA2D3_ENST00000490478.1_Silent_p.G799G|CACNA2D3_ENST00000415676.2_Silent_p.G893G|CACNA2D3_ENST00000288197.5_Silent_p.G893G|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3			59				Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TAACAATGGGCTCCTTTAAAA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000474759.1	1	1	hg19	CCDS54598.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	1	25	120	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	9.999999e-01	25	115	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
CACNA2D3	55799	broad.mit.edu	37	3	55107828	55107828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55107828G>A	ENST00000474759.1	+	37	3173	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3			59				Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AAGTGTGAACGTCTAAAGGCC	0.423000																								0							SO:0001583	missense			ENST00000474759.1	1	1	hg19	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190546	0.94923	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.66378	2.025	0.48236	D	0.999618	D	0.89917	1.0	D	0.91635	0.999	D	0.87183	0.2229	10	0.27082	T	0.32	.	18.0391	0.89314	0.0:0.0:1.0:0.0	.	1042	Q8IZS8	CA2D3_HUMAN	H	1042;1042;1042;948;949	ENSP00000389506:R1042H;ENSP00000419101:R1042H;ENSP00000288197:R1042H;ENSP00000417279:R948H	ENSP00000288197:R1042H	R	+	2	0	CACNA2D3	55082868	1.000000	0.71417	0.942000	0.38095	0.989000	0.77384	9.444000	0.97578	2.694000	0.91930	0.637000	0.83480	CGT		TCGA-IB-7651-01A-11D-2154-08	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1	1	0	1	26	106	0	29	0	0	0	1	0	29	2		0	0	0	0	0	2	1	1	24	105	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
WNT5A	7474	broad.mit.edu	37	3	55508452	55508452	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55508452G>T	ENST00000474267.1	-	5	1118	c.597C>A	c.(595-597)gcC>gcA	p.A199A	WNT5A_ENST00000264634.4_Silent_p.A199A|WNT5A_ENST00000497027.1_Silent_p.A184A			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A			13					CCCGCTCGCGGGCGTCCACGA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000474267.1	1	1	hg19	CCDS46850.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	1	0	0	23	113	0	15	0	9.482118e-01	0	27	0	15	2		0	0	0	0	0	2	1	9.999996e-01	23	111	0	15	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
ERC2	26059	broad.mit.edu	37	3	55768825	55768825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55768825G>A	ENST00000288221.6	-	15	2941	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2			31					TGTACTAGTCGGTCTTTTTCC	0.478000																								0							SO:0001587	stop_gained			ENST00000288221.6	0	1	hg19	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	41	8.845178	0.98976	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.67	3.77	0.43336	.	0.063683	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0675	7.1764	0.25747	0.0853:0.0:0.5892:0.3255	.	.	.	.	X	896	.	ENSP00000288221:R896X	R	-	1	2	ERC2	55743865	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.704000	0.68347	1.394000	0.46624	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	1	0	1	22	141	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999990e-01	20	139	0	31	2								-2.628002	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998801	0.990000	1	9.900000e-01	1
ERC2	26059	broad.mit.edu	37	3	56044551	56044551	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56044551C>T	ENST00000288221.6	-	9	2101	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2			31					CGGAAGGATTCTATCTCTTCT	0.403000																								0							SO:0001583	missense			ENST00000288221.6	1	1	hg19	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430625	0.83776	.	.	ENSG00000187672	ENST00000288221	T	0.50001	0.76	6.02	5.14	0.70334	.	0.094954	0.64402	D	0.000001	T	0.42810	0.1219	L	0.44542	1.39	0.48571	D	0.999677	B	0.26708	0.157	B	0.25140	0.058	T	0.22977	-1.0201	10	0.33940	T	0.23	-21.3003	16.7283	0.85429	0.1304:0.8695:0.0:0.0	.	616	O15083	ERC2_HUMAN	K	616	ENSP00000288221:E616K	ENSP00000288221:E616K	E	-	1	0	ERC2	56019591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.548000	0.49413	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	1	0	1	99	439	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	97	428	0	113	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERC2	26059	broad.mit.edu	37	3	56330455	56330455	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56330455C>A	ENST00000288221.6	-	3	921	c.666G>T	c.(664-666)caG>caT	p.Q222H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2			31					GGATTGTCAACTGTAGGTGCT	0.517000																								0							SO:0001583	missense			ENST00000288221.6	1	1	hg19	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632651	0.47049	.	.	ENSG00000187672	ENST00000288221	T	0.54479	0.57	5.86	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	L	0.53729	1.69	0.44181	D	0.996993	D	0.62365	0.991	D	0.75484	0.986	T	0.60924	-0.7166	10	0.46703	T	0.11	-27.0337	10.2316	0.43258	0.0:0.7198:0.0:0.2802	.	222	O15083	ERC2_HUMAN	H	222	ENSP00000288221:Q222H	ENSP00000288221:Q222H	Q	-	3	2	ERC2	56305495	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.649000	0.46656	0.496000	0.27904	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	1	0	0	57	214	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	54	211	0	42	2								-20.000000	1	1	120946	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERC2	26059	broad.mit.edu	37	3	56468991	56468991	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56468991A>G	ENST00000288221.6	-	2	300	c.45T>C	c.(43-45)ccT>ccC	p.P15P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2			31					GGGATCTGGAAGGGCTACCTT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000288221.6	1	1	hg19	CCDS46851.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	1	0	1	34	188	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	33	183	0	39	2								-17.831660	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
CCDC66	285331	broad.mit.edu	37	3	56653485	56653485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56653485C>T	ENST00000394672.3	+	16	2635	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	CCDC66_ENST00000326595.7_Silent_p.I821I|CCDC66_ENST00000436465.2_Silent_p.I855I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66			12					CAAATGAGATCTATTACCTTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000394672.3	1	1	hg19	CCDS46852.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	1	0	1	92	353	0	88	1	9.246267e-01	6	13	0	88	2		0	0	0	0	0	2	1	1	90	348	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL17RD	54756	broad.mit.edu	37	3	57132156	57132156	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57132156C>T	ENST00000296318.7	-	12	1663	c.1575G>A	c.(1573-1575)acG>acA	p.T525T	IL17RD_ENST00000463523.1_Silent_p.T381T|IL17RD_ENST00000427856.2_Silent_p.T501T|IL17RD_ENST00000320057.5_Silent_p.T381T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D			16					TGCCCTGTCGCGTGTGCTGCC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000296318.7	1	1	hg19	CCDS2880.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	1	0	1	35	167	0	45	0	3.573498e-01	0	7	0	45	2		0	0	0	0	1	2	1	1	35	162	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
HESX1	8820	broad.mit.edu	37	3	57232919	57232919	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57232919G>A	ENST00000295934.3	-	2	255	c.219C>T	c.(217-219)agC>agT	p.S73S	HESX1_ENST00000473921.1_Silent_p.S73S	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1			7					GATCCACCACGCTAGGGAATG	0.393000													Esophageal Squamous(84;267 1272 9034 48993 52677)											0							SO:0001819	synonymous_variant			ENST00000295934.3	1	1	hg19	CCDS2881.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2	1	0	0	277	1197	0	325	1	7.318730e-01	5	8	0	325	2		0	0	0	0	0	2	1	1	276	1185	0	323	2								-20.000000	1	1	121412	2	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APPL1	26060	broad.mit.edu	37	3	57294725	57294725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57294725C>T	ENST00000288266.3	+	19	1912	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1			27					ATTTGTTCTTCGGACATCAAG	0.393000																								0							SO:0001583	missense			ENST00000288266.3	1	1	hg19	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810490	0.90707	.	.	ENSG00000157500	ENST00000288266	T	0.12255	2.7	5.37	5.37	0.77165	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.133459	0.51477	D	0.000085	T	0.30293	0.0760	L	0.54323	1.7	0.52501	D	0.999957	D;D	0.89917	0.999;1.0	P;P	0.62089	0.854;0.898	T	0.00912	-1.1517	10	0.87932	D	0	.	14.9148	0.70789	0.152:0.848:0.0:0.0	.	572;589	B4DQX8;Q9UKG1	.;DP13A_HUMAN	W	589	ENSP00000288266:R589W	ENSP00000288266:R589W	R	+	1	2	APPL1	57269765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.511000	0.84671	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	1	0	1	164	830	0	172	1	1	37	133	0	172	2		0	0	0	0	0	2	1	1	163	820	0	170	2								-3.319937	1	1	121412	2	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH12	201625	broad.mit.edu	37	3	57493472	57493472	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57493472T>G	ENST00000351747.2	-	8	975	c.795A>C	c.(793-795)ccA>ccC	p.P265P	DNAH12_ENST00000389536.4_Silent_p.P265P|DNAH12_ENST00000311202.6_Silent_p.P265P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12			25					TTATAACCTTTGGATACCATG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000351747.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	86	332	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	85	322	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH12	201625	broad.mit.edu	37	3	57494905	57494905	+	Silent	SNP	C	C	T	rs150553536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494905C>T	ENST00000351747.2	-	6	684	c.504G>A	c.(502-504)tcG>tcA	p.S168S	DNAH12_ENST00000389536.4_Silent_p.S168S|DNAH12_ENST00000311202.6_Silent_p.S168S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12			25					CATCTTCAAGCGATTTAACTG	0.308000																								0							SO:0001819	synonymous_variant			ENST00000351747.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	71	328	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	70	322	0	82	2								-3.143060	1	1	121410	1	27	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH12	201625	broad.mit.edu	37	3	57496520	57496520	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57496520A>G	ENST00000351747.2	-	5	646	c.466T>C	c.(466-468)Ttg>Ctg	p.L156L	RNU6-1181P_ENST00000384191.1_RNA|DNAH12_ENST00000389536.4_Silent_p.L156L|DNAH12_ENST00000311202.6_Silent_p.L156L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12			25					TACTTACCCAAATATCTCTTC	0.398000																								0							SO:0001819	synonymous_variant			ENST00000351747.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	45	249	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	45	246	0	46	2								-19.996930	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ARF4	378	broad.mit.edu	37	3	57561333	57561333	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57561333G>T	ENST00000303436.6	-	5	665	c.398C>A	c.(397-399)gCt>gAt	p.A133D	ARF4_ENST00000496292.1_Missense_Mutation_p.A106D|ARF4_ENST00000489843.1_Missense_Mutation_p.A24D	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4			7					GATGGCCATAGCATTTGGCAA	0.383000																								0							SO:0001583	missense			ENST00000303436.6	1	1	hg19	CCDS2884.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608893	0.96637	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	T;T	0.69435	-0.4;-0.4	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.977	D	0.94091	0.7353	10	0.87932	D	0	-11.9416	20.5269	0.99230	0.0:0.0:1.0:0.0	.	106;133	C9JAK5;P18085	.;ARF4_HUMAN	D	133;106	ENSP00000306010:A133D;ENSP00000417501:A106D	ENSP00000306010:A133D	A	-	2	0	ARF4	57536373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.770000	0.98971	2.859000	0.98148	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	1	0	1	65	279	0	70	1	1	580	1511	0	70	2		0	0	0	0	0	2	1	1	65	275	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNB	2317	broad.mit.edu	37	3	58084521	58084521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58084521A>G	ENST00000295956.4	+	8	1396	c.1231A>G	c.(1231-1233)Aac>Gac	p.N411D	FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000357272.4_Missense_Mutation_p.N411D|FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000490882.1_Missense_Mutation_p.N411D|FLNB_ENST00000358537.3_Missense_Mutation_p.N411D|FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000348383.5_Missense_Mutation_p.N411D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta			120					AGACAAAGGAAACCAGGTGTA	0.522000																								0							SO:0001583	missense			ENST00000295956.4	1	1	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	4.688	0.127874	0.08981	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;T;T;D;D;D;T;D	0.89196	-2.48;0.31;0.31;-2.48;-2.48;-2.48;0.31;-2.48	5.28	4.09	0.47781	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.171248	0.64402	D	0.000006	T	0.68559	0.3014	N	0.01431	-0.87	0.40536	D	0.980972	B;B;B;B;B;B	0.16603	0.001;0.001;0.018;0.0;0.003;0.008	B;B;B;B;B;B	0.20184	0.008;0.013;0.028;0.008;0.013;0.02	T	0.64630	-0.6362	10	0.02654	T	1	.	11.6375	0.51213	0.8666:0.0:0.0:0.1334	.	411;411;242;242;411;411	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	D	411;411;411;411;411;411;242;242	ENSP00000295956:N411D;ENSP00000420213:N411D;ENSP00000351339:N411D;ENSP00000415599:N411D;ENSP00000232447:N411D;ENSP00000349819:N411D;ENSP00000418510:N242D;ENSP00000414532:N242D	ENSP00000295956:N411D	N	+	1	0	FLNB	58059561	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.523000	0.53488	0.917000	0.36895	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	0	0	13	468	0	100	1	9.901281e-01	10	268	0	100	2		0	0	0	0	0	2	1	9.994696e-01	13	457	0	100	2								-3.250105	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.330000	0.180000	1.000000	0.320000	0.376491	0.330000	0	2.400000e-01	4.500000e-01
DNASE1L3	1776	broad.mit.edu	37	3	58183663	58183663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58183663C>T	ENST00000394549.2	-	6	905	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V197I|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3			12					TTCTTGGGGACGTAGCTGCAG	0.512000													Esophageal Squamous(96;1069 1424 4841 43466 52325)											0							SO:0001583	missense			ENST00000394549.2	1	1	hg19	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553054	0.86127	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.25	4.38	0.52667	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000003	T	0.73329	0.3573	M	0.90759	3.145	0.49299	D	0.999778	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79964	-0.1581	10	0.72032	D	0.01	.	14.0276	0.64594	0.0:0.9276:0.0:0.0724	.	167;197;197	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	I	167;197;197;197;71;197	ENSP00000419052:V167I;ENSP00000316193:V197I;ENSP00000417047:V197I;ENSP00000417976:V71I;ENSP00000378053:V197I	ENSP00000316193:V197I	V	-	1	0	DNASE1L3	58158703	0.805000	0.28982	0.965000	0.40720	0.994000	0.84299	1.597000	0.36729	1.461000	0.47929	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	1	0	1	43	195	0	56	0	0	0	1	0	56	2		0	0	0	0	0	2	1	1	42	192	0	54	2								-20.000000	1	1	121412	3	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD6	57406	broad.mit.edu	37	3	58252923	58252923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58252923C>T	ENST00000478253.1	+	4	628	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6			16					CAGGTACTGGCGGAGGACATT	0.493000																								0							SO:0001583	missense			ENST00000478253.1	1	1	hg19	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088007	0.76642	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	D;D;D;D	0.91237	-1.5;-1.5;-2.81;-2.81	5.27	4.39	0.52855	.	0.051922	0.85682	D	0.000000	D	0.94660	0.8278	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.74674	0.913;0.984	D	0.95078	0.8210	10	0.87932	D	0	-24.8984	14.9548	0.71104	0.144:0.856:0.0:0.0	.	43;43	Q9BV23;F5H7L1	ABHD6_HUMAN;.	W	43	ENSP00000420315:R43W;ENSP00000295962:R43W;ENSP00000420408:R43W;ENSP00000418934:R43W	ENSP00000295962:R43W	R	+	1	2	ABHD6	58227963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.755000	0.38379	1.202000	0.43218	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	1	0	1	100	454	0	123	1	9.751093e-01	13	16	0	123	2		0	0	0	0	0	2	1	1	97	442	0	122	2								-20.000000	1	1	121412	2	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABHD6	57406	broad.mit.edu	37	3	58260429	58260429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58260429G>T	ENST00000478253.1	+	7	1069	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6			16					ACGGCTCAAAGAACTGCAGGG	0.493000																								0							SO:0001587	stop_gained			ENST00000478253.1	0	1	hg19	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	39	7.357571	0.98235	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756	.	.	.	5.88	4.99	0.66335	.	0.228966	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.5841	15.9067	0.79436	0.0:0.0:0.8635:0.1365	.	.	.	.	X	190	.	ENSP00000295962:E190X	E	+	1	0	ABHD6	58235469	1.000000	0.71417	0.978000	0.43139	0.928000	0.56348	8.955000	0.93058	1.444000	0.47605	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	1	0	1	74	377	0	115	1	9.993188e-01	2	55	0	115	2		0	0	0	0	0	2	1	1	75	372	0	115	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXK	54899	broad.mit.edu	37	3	58383343	58383343	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58383343T>C	ENST00000356151.2	+	11	1105	c.996T>C	c.(994-996)agT>agC	p.S332S	PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000484288.1_Silent_p.S332S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000463280.1_Silent_p.S299S|PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000302779.5_Silent_p.S315S|PXK_ENST00000479241.1_Silent_p.S315S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase			19					CATTGGAAAGTGTGGATGTCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000356151.2	1	1	hg19	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352609	0.24512	.	.	ENSG00000168297	ENST00000479134	.	.	.	5.52	-2.33	0.06724	.	.	.	.	.	T	0.52549	0.1741	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50285	-0.8846	4	.	.	.	-15.6095	8.5718	0.33574	0.0:0.3656:0.104:0.5303	.	.	.	.	A	87	.	.	V	+	2	0	PXK	58358383	0.883000	0.30277	0.998000	0.56505	0.971000	0.66376	-0.103000	0.10940	-0.030000	0.13804	0.460000	0.39030	GTG		TCGA-IB-7651-01A-11D-2154-08	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	0	0	1	167	734	1	188	0	9.980710e-01	0	53	1	188	3		0	0	0	0	0	2	1	1	165	726	1	187	17								-20.000000	1	1	121412	8	44	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXK	54899	broad.mit.edu	37	3	58395340	58395340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58395340C>T	ENST00000356151.2	+	15	1499	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000463280.1_Nonsense_Mutation_p.R431*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase			19					GATTTTAGCTCGAAAGGTAAG	0.418000																								0							SO:0001587	stop_gained			ENST00000356151.2	0	1	hg19	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.792770|7.792770	0.98492|0.98492	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660|ENST00000536750	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65842	.|0.2730	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69135	.|-0.5225	.|3	0.08381|.	T|.	0.77|.	-9.0252|-9.0252	14.5269|14.5269	0.67894|0.67894	0.1458:0.8542:0.0:0.0|0.1458:0.8542:0.0:0.0	.|.	.|.	.|.	.|.	X|L	464;447;431;431;447;464;447;327|326	.|.	ENSP00000305045:R447X|.	R|S	+|+	1|2	2|0	PXK|PXK	58370380|58370380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.316000|2.316000	0.43761|0.43761	2.759000|2.759000	0.94783|0.94783	0.643000|0.643000	0.83706|0.83706	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	1	0	1	28	127	0	35	0	9.975088e-01	1	45	0	35	2		0	0	0	0	0	2	1	1	27	125	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
KCTD6	200845	broad.mit.edu	37	3	58486991	58486991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58486991A>G	ENST00000355076.6	+	2	1329	c.346A>G	c.(346-348)Act>Gct	p.T116A	KCTD6_ENST00000404589.3_Missense_Mutation_p.T116A|KCTD6_ENST00000490264.1_Missense_Mutation_p.T116A	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6			5					TCCCATGGATACTTTTGAAGA	0.418000																								0							SO:0001583	missense			ENST00000355076.6	1	1	hg19	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	A	4.125	0.021343	0.08006	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.59906	0.23;0.23;0.23	5.75	4.59	0.56863	.	0.047779	0.85682	D	0.000000	T	0.33177	0.0854	N	0.08118	0	0.43603	D	0.995964	B	0.06786	0.001	B	0.04013	0.001	T	0.10613	-1.0622	10	0.09084	T	0.74	.	11.8039	0.52143	0.9314:0.0:0.0686:0.0	.	116	Q8NC69	KCTD6_HUMAN	A	116	ENSP00000384948:T116A;ENSP00000417490:T116A;ENSP00000347188:T116A	ENSP00000347188:T116A	T	+	1	0	KCTD6	58462031	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.339000	0.96797	1.002000	0.39104	-0.290000	0.09829	ACT		TCGA-IB-7651-01A-11D-2154-08	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	0	0	0	25	436	0	123	1	9.004044e-01	4	68	0	123	2		0	0	0	0	0	2	1	9.999998e-01	25	432	0	122	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.650000	0.430000	1.000000	0.640000	0.676505	0.650000	0	5.300000e-01	8.100000e-01
KCTD6	200845	broad.mit.edu	37	3	58487184	58487184	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58487184G>A	ENST00000355076.6	+	2	1522	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E|KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6			5					TTTACTTTTGGACCCTGTGAT	0.438000																								0							SO:0001583	missense			ENST00000355076.6	1	1	hg19	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104352	0.56291	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.73681	-0.77;-0.77;-0.77	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	N	0.08118	0	0.80722	D	1	B	0.18741	0.03	B	0.18263	0.021	T	0.54275	-0.8318	10	0.36615	T	0.2	.	19.5251	0.95201	0.0:0.0:1.0:0.0	.	180	Q8NC69	KCTD6_HUMAN	E	180	ENSP00000384948:G180E;ENSP00000417490:G180E;ENSP00000347188:G180E	ENSP00000347188:G180E	G	+	2	0	KCTD6	58462224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.615000	0.88500	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	1	0	1	71	300	0	74	1	9.999876e-01	19	53	0	74	2		0	0	0	0	0	2	1	1	71	297	0	74	2								-3.511053	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACOX2	8309	broad.mit.edu	37	3	58512232	58512232	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58512232T>C	ENST00000302819.5	-	10	1598	c.1307A>G	c.(1306-1308)tAc>tGc	p.Y436C	ACOX2_ENST00000459701.2_Missense_Mutation_p.Y422C	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain			25					CTCACCCTCGTAGGTACAGGA	0.602000																								0							SO:0001583	missense			ENST00000302819.5	1	1	hg19	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794993	0.50208	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.74737	-0.87;-0.87	4.26	3.08	0.35506	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.100654	0.43747	D	0.000538	D	0.88905	0.6564	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.89965	0.4089	10	0.87932	D	0	-24.8706	10.3272	0.43801	0.1475:0.0:0.0:0.8524	.	436	Q99424	ACOX2_HUMAN	C	422;436	ENSP00000418562:Y422C;ENSP00000307697:Y436C	ENSP00000307697:Y436C	Y	-	2	0	ACOX2	58487272	1.000000	0.71417	0.718000	0.30602	0.353000	0.29299	5.629000	0.67798	0.782000	0.33613	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1	1	0	1	35	141	0	41	0	8.267236e-01	0	15	0	41	2		0	0	0	0	0	2	1	1	33	134	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM3D	131177	broad.mit.edu	37	3	58622881	58622881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58622881C>T	ENST00000358781.2	-	8	755	c.445G>A	c.(445-447)Gat>Aat	p.D149N	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D			3					GTCCCTGGATCGTCGTAGGAG	0.507000																								0							SO:0001583	missense			ENST00000358781.2	1	1	hg19	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870487	0.91587	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857	T;T;T	0.50001	1.94;1.13;0.76	5.16	5.16	0.70880	.	0.066529	0.64402	D	0.000010	T	0.74450	0.3718	M	0.90542	3.125	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.80441	-0.1381	10	0.87932	D	0	-50.262	16.5175	0.84304	0.0:1.0:0.0:0.0	.	149	Q96BQ1	FAM3D_HUMAN	N	149;148;112	ENSP00000351632:D149N;ENSP00000417099:D148N;ENSP00000417453:D112N	ENSP00000351632:D149N	D	-	1	0	FAM3D	58597921	1.000000	0.71417	0.970000	0.41538	0.754000	0.42855	6.146000	0.71777	2.559000	0.86315	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	1	0	1	25	105	0	31	1	1	85	77	0	31	2		0	0	0	0	0	2	1	9.999999e-01	25	102	0	31	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
C3orf67	200844	broad.mit.edu	37	3	58739540	58739540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58739540G>A	ENST00000482387.1	-	12	2009	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	C3orf67_ENST00000295966.7_Missense_Mutation_p.P512L			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67			19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)			CTGCTCAGCCGGCTGTTGACT	0.378000																								0							SO:0001583	missense			ENST00000482387.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.641	0.486807	0.12641	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.18016	2.27;2.24	5.77	5.77	0.91146	.	0.402448	0.25138	N	0.032848	T	0.18635	0.0447	L	0.36672	1.1	0.42549	D	0.993106	P;D	0.61080	0.802;0.989	B;P	0.48488	0.274;0.579	T	0.00314	-1.1824	10	0.54805	T	0.06	-4.0276	9.7198	0.40295	0.1216:0.0:0.8784:0.0	.	512;638	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	L	512;638	ENSP00000295966:P512L;ENSP00000417122:P638L	ENSP00000295966:P512L	P	-	2	0	C3orf67	58714580	0.226000	0.23696	0.513000	0.27749	0.514000	0.34195	3.925000	0.56484	2.885000	0.99019	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	1	0	1	37	172	0	46	1	3.673905e-01	2	5	0	46	2		0	0	0	0	0	2	1	1	36	170	0	45	2								-3.074977	1	1	121408	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C3orf67	200844	broad.mit.edu	37	3	58855183	58855183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58855183A>G	ENST00000482387.1	-	5	607	c.511T>C	c.(511-513)Tca>Cca	p.S171P	RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.S91P|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67			19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)			GGCTGGCATGATCGGTTATTT	0.368000																								0							SO:0001583	missense			ENST00000482387.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.48	2.250966	0.39797	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.55052	0.54;0.54;0.54	5.85	3.21	0.36854	.	0.547984	0.17910	N	0.157884	T	0.45337	0.1337	L	0.59436	1.845	0.09310	N	1	B;B	0.22683	0.073;0.004	B;B	0.25884	0.064;0.011	T	0.39683	-0.9602	10	0.44086	T	0.13	-1.7827	5.7794	0.18297	0.7533:0.0:0.0873:0.1594	.	91;171	C9J3M8;Q6ZVT6-2	.;.	P	171;171;91	ENSP00000295966:S171P;ENSP00000417122:S171P;ENSP00000417271:S91P	ENSP00000295966:S171P	S	-	1	0	C3orf67	58830223	0.542000	0.26426	0.003000	0.11579	0.347000	0.29111	2.849000	0.48286	1.044000	0.40200	0.533000	0.62120	TCA		TCGA-IB-7651-01A-11D-2154-08	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	1	0	1	95	314	0	63	1	7.616283e-01	2	9	0	63	2		0	0	0	0	0	2	1	1	92	305	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRG	5793	broad.mit.edu	37	3	61989075	61989075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:61989075C>T	ENST00000474889.1	+	4	800	c.423C>T	c.(421-423)ggC>ggT	p.G141G	PTPRG_ENST00000295874.10_Silent_p.G141G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G			62					GTCTACCTGGCAGATTCAAAG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000474889.1	1	1	hg19	CCDS2895.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	1	0	1	89	344	0	85	1	9.999707e-01	3	58	0	85	2		0	0	0	0	0	2	1	1	89	343	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRG	5793	broad.mit.edu	37	3	62153813	62153813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62153813C>T	ENST00000474889.1	+	8	1386	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G			62					CTTAGAAAACCCACTGGGGAC	0.448000																								0							SO:0001583	missense			ENST00000474889.1	1	1	hg19	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770178	0.90108	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.51071	0.73;0.72	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.963	T	0.69967	-0.5001	10	0.72032	D	0.01	.	19.4228	0.94729	0.0:1.0:0.0:0.0	.	337;337	P23470-2;P23470	.;PTPRG_HUMAN	S	337	ENSP00000418112:P337S;ENSP00000295874:P337S	ENSP00000295874:P337S	P	+	1	0	PTPRG	62128853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.663000	0.90544	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	1	0	1	51	218	0	54	1	9.999155e-01	11	52	0	54	2		0	0	0	0	0	2	1	1	51	208	0	54	2								-3.158234	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRG	5793	broad.mit.edu	37	3	62259478	62259478	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62259478C>T	ENST00000474889.1	+	23	3801	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G			62					CATCCTTATACCAGGAGTAGG	0.393000																								0							SO:0001583	missense			ENST00000474889.1	1	1	hg19	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342343	0.81911	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.52057	0.68;0.68	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.72118	2.19	0.80722	D	1	D;P;D	0.65815	0.995;0.952;0.992	P;P;P	0.62298	0.727;0.65;0.9	T	0.68550	-0.5379	10	0.72032	D	0.01	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	388;1113;1142	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1142;1113	ENSP00000418112:P1142S;ENSP00000295874:P1113S	ENSP00000295874:P1113S	P	+	1	0	PTPRG	62234518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.879000	0.98667	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	1	0	1	84	355	0	86	1	1	13	118	0	86	2		0	0	0	0	0	2	1	1	83	351	1	83	18								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FEZF2	55079	broad.mit.edu	37	3	62356929	62356929	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62356929G>A	ENST00000283268.3	-	4	1377	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	FEZF2_ENST00000475839.1_Silent_p.F361F|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Silent_p.F361F|PTPRG-AS1_ENST00000490916.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2			20		Lung SC(41;0.0262)			ATTCGCAGACGAAGGGCTTGT	0.572000													NSCLC(170;1772 2053 12525 15604 23984)											0							SO:0001819	synonymous_variant			ENST00000283268.3	1	1	hg19	CCDS2897.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	1	0	0	55	476	0	93		0	0	0	0	93	2		0	0	0	0	1	2	1	1	55	468	0	92	2								-3.142702	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.940000	1.000000	1.000000	0.996702	0.990000	1	9.900000e-01	1
FEZF2	55079	broad.mit.edu	37	3	62357998	62357998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62357998C>T	ENST00000283268.3	-	2	840	c.546G>A	c.(544-546)ccG>ccA	p.P182P	FEZF2_ENST00000475839.1_Silent_p.P182P|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Silent_p.P182P|PTPRG-AS1_ENST00000490916.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2			20		Lung SC(41;0.0262)			GGAGCTCAGACGGCGGGTACG	0.662000													NSCLC(170;1772 2053 12525 15604 23984)											0							SO:0001819	synonymous_variant			ENST00000283268.3	1	1	hg19	CCDS2897.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	1	0	0	22	95	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999994e-01	22	94	0	16	2								-20.000000	1	1	121114	2	25	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
CADPS	8618	broad.mit.edu	37	3	62631410	62631410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62631410C>T	ENST00000383710.4	-	6	1661	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	CADPS_ENST00000283269.9_Missense_Mutation_p.A438T|CADPS_ENST00000357948.3_Missense_Mutation_p.A438T|CADPS_ENST00000490353.2_Missense_Mutation_p.A438T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator			92		Lung SC(41;0.0452)			GGTTTAGAAGCCTCGGCCTGA	0.453000																								0							SO:0001583	missense			ENST00000383710.4	1	1	hg19	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910819	0.92178	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.06	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.78801	2.425	0.80722	D	1	D;D;P	0.67145	0.99;0.996;0.877	D;D;B	0.76071	0.94;0.987;0.398	D	0.85985	0.1485	10	0.66056	D	0.02	.	19.6287	0.95691	0.0:1.0:0.0:0.0	.	438;438;438	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	438	ENSP00000373215:A438T;ENSP00000350632:A438T;ENSP00000283269:A438T;ENSP00000418736:A438T	ENSP00000283269:A438T	A	-	1	0	CADPS	62606450	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.710000	0.92621	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	1	0	1	125	575	0	144	0	7.037377e-01	0	13	0	144	2		0	0	0	0	0	2	1	1	125	568	0	143	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNPR	132204	broad.mit.edu	37	3	63600932	63600932	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63600932T>C	ENST00000295894.5	+	5	942	c.573T>C	c.(571-573)gcT>gcC	p.A191A	SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000478300.1_Silent_p.A211A|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.A202A	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin			8					TTCTCTGGGCTGGAAACATAT	0.398000													NSCLC(29;1052 1116 20025 32519)											0							SO:0001819	synonymous_variant			ENST00000295894.5	1	1	hg19	CCDS46860.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1	1	0	1	26	99	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1	25	98	0	25	2								-17.971680	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
THOC7	80145	broad.mit.edu	37	3	63823667	63823667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63823667G>A	ENST00000295899.5	-	4	449	c.337C>T	c.(337-339)Cga>Tga	p.R113*	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)			4					CGATTTTTTCGTATTCGTTTT	0.328000													Colon(48;665 1127 6720 18651)											0							SO:0001587	stop_gained			ENST00000295899.5	0	1	hg19	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611060	0.87258	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.07	4.22	0.49857	.	0.061422	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6777	15.3019	0.73958	0.0:0.0:0.6366:0.3634	.	.	.	.	X	113	.	ENSP00000295899:R113X	R	-	1	2	THOC7	63798707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.828000	0.55753	0.825000	0.34637	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	1	0	1	94	467	0	95	1	1	4	291	0	95	2		0	0	0	0	0	2	1	1	94	462	0	95	2								-20.000000	1	1	121402	1	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATXN7	6314	broad.mit.edu	37	3	63973863	63973863	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63973863G>A	ENST00000295900.6	+	9	1774	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	ATXN7_ENST00000484332.1_Silent_p.P263P|ATXN7_ENST00000398590.3_Silent_p.P408P|ATXN7_ENST00000487717.1_Silent_p.P408P|ATXN7_ENST00000538065.1_Silent_p.P408P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7			35		Prostate(884;0.0181)			AGCAACCACCGCAGCCTCTCA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000295900.6	0	1	hg19	CCDS43102.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	0	0	0	23	1395	0	245	0	1.773698e-01	1	44	0	245	2		0	0	0	0	0	2	1	9.999992e-01	23	1374	0	242	2								-1.481800	0	1	120944	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.190000	0.120000	1.000000	0.190000	0.243998	0.190000	0	1.500000e-01	2.500000e-01
ATXN7	6314	broad.mit.edu	37	3	63981390	63981390	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981390C>T	ENST00000295900.6	+	12	2442	c.1892C>T	c.(1891-1893)gCt>gTt	p.A631V	ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000398590.3_Missense_Mutation_p.A631V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7			35		Prostate(884;0.0181)			CAGCCTGCTGCTTCAGGGGCG	0.542000																								0							SO:0001583	missense			ENST00000295900.6	1	1	hg19	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167233	0.21621	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.16	2.8	0.32819	.	0.627928	0.16530	N	0.210399	T	0.13200	0.0320	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.22730	-1.0208	10	0.42905	T	0.14	4.3154	6.6831	0.23131	0.0:0.5747:0.2973:0.1279	.	486;631;631	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	V	631;631;631;631;486	ENSP00000381590:A631V;ENSP00000295900:A631V;ENSP00000420234:A631V;ENSP00000439585:A631V;ENSP00000428277:A486V	ENSP00000295900:A631V	A	+	2	0	ATXN7	63956430	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	1.181000	0.32017	0.304000	0.22809	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	0	0	1	131	526	1	131	1	9.982913e-01	13	37	1	131	3		0	0	0	0	0	2	1	1	127	511	1	131	17								-20.000000	1	1	121312	3	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATXN7	6314	broad.mit.edu	37	3	63981756	63981756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981756C>T	ENST00000295900.6	+	12	2808	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000398590.3_Missense_Mutation_p.S753F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7			35		Prostate(884;0.0181)			GTAACATCTTCCCATAGCATC	0.557000																								0							SO:0001583	missense			ENST00000295900.6	1	1	hg19	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043594	0.75732	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.18960	2.18;2.22;2.22;2.18;2.2	4.78	4.78	0.61160	.	0.408743	0.27631	N	0.018516	T	0.32406	0.0828	L	0.53249	1.67	0.58432	D	0.99999	P;P;P	0.50617	0.8;0.937;0.895	B;P;B	0.49999	0.424;0.628;0.424	T	0.03259	-1.1055	10	0.40728	T	0.16	-1.2999	18.2362	0.89950	0.0:1.0:0.0:0.0	.	608;753;753	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	F	753;753;753;753;608	ENSP00000381590:S753F;ENSP00000295900:S753F;ENSP00000420234:S753F;ENSP00000439585:S753F;ENSP00000428277:S608F	ENSP00000295900:S753F	S	+	2	0	ATXN7	63956796	1.000000	0.71417	0.973000	0.42090	0.839000	0.47603	7.191000	0.77763	2.383000	0.81215	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	0	0	0	15	441	0	101	1	6.402021e-01	6	58	0	101	2		0	0	0	0	0	2	1	9.998507e-01	15	430	0	100	2								-3.598114	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.400000	0.230000	1.000000	0.390000	0.442110	0.400000	0	3.000000e-01	5.400000e-01
PRICKLE2	166336	broad.mit.edu	37	3	64084844	64084844	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64084844G>A	ENST00000295902.6	-	8	3003	c.2418C>T	c.(2416-2418)agC>agT	p.S806S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S862S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)			32		Lung NSC(201;0.136)			GCAGCTCATCGCTTGTGACGT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000295902.6	1	1	hg19	CCDS2902.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	1	0	1	97	442	0	96	0	9.109556e-01	0	21	0	96	2		0	0	0	0	0	2	1	1	96	436	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRICKLE2	166336	broad.mit.edu	37	3	64085153	64085153	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085153G>A	ENST00000295902.6	-	8	2694	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S759S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)			32		Lung NSC(201;0.136)			CCTCGCGTTCGCTGGCCAGGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000295902.6	1	1	hg19	CCDS2902.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	1	0	1	84	319	0	76	0	9.578889e-01	0	22	0	76	2		0	0	0	0	0	2	1	1	81	313	0	76	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRICKLE2	166336	broad.mit.edu	37	3	64138976	64138976	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64138976G>A	ENST00000295902.6	-	6	1254	c.669C>T	c.(667-669)ttC>ttT	p.F223F	PRICKLE2_ENST00000564377.1_Silent_p.F279F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)			32		Lung NSC(201;0.136)			TCTCACACTCGAAGCAGCAAA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000295902.6	1	1	hg19	CCDS2902.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	0	0	1	122	536	0	137	0	3.852170e-01	0	7	0	137	2		0	0	0	0	0	2	1	1	121	531	0	136	2								-3.406570	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGI1	9223	broad.mit.edu	37	3	65342481	65342481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65342481G>A	ENST00000402939.2	-	23	3960	c.3961C>T	c.(3961-3963)Cgg>Tgg	p.R1321W	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1			51		Lung NSC(201;0.0016)			TCTGGGGACCGCCTCTTGGGG	0.711000																								0							SO:0001583	missense			ENST00000402939.2	1	1	hg19	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495189	0.26774	.	.	ENSG00000151276	ENST00000402939	T	0.14022	2.54	5.31	0.16	0.14972	.	0.351946	0.28784	N	0.014145	T	0.09512	0.0234	L	0.27053	0.805	0.20764	N	0.99985	D	0.60160	0.987	B	0.43123	0.409	T	0.21655	-1.0239	10	0.72032	D	0.01	-8.2417	9.3632	0.38208	0.0:0.069:0.461:0.47	.	1321	Q96QZ7-2	.	W	1321	ENSP00000385450:R1321W	ENSP00000385450:R1321W	R	-	1	2	MAGI1	65317521	0.002000	0.14202	0.004000	0.12327	0.013000	0.08279	0.548000	0.23314	-0.203000	0.10251	-0.181000	0.13052	CGG		TCGA-IB-7651-01A-11D-2154-08	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	0	0	0	15	532	0	70	0	1.690222e-02	0	7	0	70	2		0	0	0	0	0	2	1	9.998507e-01	14	521	0	67	2								-12.677210	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.330000	0.190000	1.000000	0.320000	0.378628	0.330000	0	2.500000e-01	4.500000e-01
MAGI1	9223	broad.mit.edu	37	3	65415781	65415781	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65415781A>C	ENST00000497477.2	-	12	1580	c.1581T>G	c.(1579-1581)gtT>gtG	p.V527V	MAGI1_ENST00000330909.8_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000402939.2_Silent_p.V527V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1			51		Lung NSC(201;0.0016)			TGTGTCCCAAAACACAGGTGT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000497477.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	9.836	1.189706	0.21954	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.92	0.898	0.19264	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-20.2447	6.8542	0.24032	0.3073:0.3707:0.322:0.0	.	.	.	.	C	408	.	.	F	-	2	0	MAGI1	65390821	0.822000	0.29219	0.999000	0.59377	0.996000	0.88848	0.027000	0.13621	0.140000	0.18849	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	1	0	1	32	174	0	44	1	9.805652e-01	15	22	0	44	2		0	0	0	0	0	2	1	1	33	169	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
MAGI1	9223	broad.mit.edu	37	3	65425564	65425564	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65425564C>T	ENST00000497477.2	-	9	1259	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	MAGI1_ENST00000330909.8_Silent_p.Q420Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q420Q|MAGI1_ENST00000402939.2_Silent_p.Q420Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1			51		Lung NSC(201;0.0016)			CTTCTGTctgctgctgctgct	0.557000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000497477.2	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	3.594	-0.082995	0.07141	.	.	ENSG00000151276	ENST00000460329	.	.	.	2.99	-2.95	0.05564	.	.	.	.	.	T	0.26011	0.0634	.	.	.	0.30109	N	0.806727	.	.	.	.	.	.	T	0.34650	-0.9820	4	.	.	.	7.9324	3.5147	0.07721	0.1864:0.3158:0.0:0.4978	.	.	.	.	N	301	.	.	S	-	2	0	MAGI1	65400604	0.069000	0.21087	0.269000	0.24586	0.143000	0.21401	-0.541000	0.06099	-0.549000	0.06191	0.454000	0.30748	AGC		TCGA-IB-7651-01A-11D-2154-08	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	1	0	0	23	483	0	93	1	3.803497e-01	2	26	0	93	2		0	0	0	0	0	2	0	9.999688e-01	1	348	0	56	2								-4.826917	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.550000	0.350000	1.000000	0.540000	0.578774	0.550000	0	4.400000e-01	6.900000e-01
MAGI1	9223	broad.mit.edu	37	3	65479270	65479270	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65479270C>T	ENST00000497477.2	-	3	466	c.467G>A	c.(466-468)gGc>gAc	p.G156D	MAGI1_ENST00000330909.8_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1			51		Lung NSC(201;0.0016)			ATAGTCCACGCCAGGCACTTC	0.478000																								0							SO:0001583	missense			ENST00000497477.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.007034|5.007034	0.93287|0.93287	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477	.|T;T;T;T;T	.|0.76968	.|-1.06;-1.06;-1.06;-1.06;-1.06	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90631|0.90631	0.7062|0.7062	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.995;1.0;1.0;1.0	D|D	0.91138|0.91138	0.4943|0.4943	5|10	.|0.66056	.|D	.|0.02	-22.1782|-22.1782	20.2552|20.2552	0.98417|0.98417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;156;156;156;156;156	.|Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;MAGI1_HUMAN;.;.;.;.	T|D	37|156;156;52;31;156;156	.|ENSP00000385450:G156D;ENSP00000331157:G156D;ENSP00000418177:G31D;ENSP00000420323:G156D;ENSP00000424369:G156D	.|ENSP00000331157:G156D	A|G	-|-	1|2	0|0	MAGI1|MAGI1	65454310|65454310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.089000|6.089000	0.71384|0.71384	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GCG|GGC		TCGA-IB-7651-01A-11D-2154-08	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	1	0	1	26	219	0	58	1	9.086904e-01	8	29	0	58	2		0	0	0	0	0	2	1	9.999999e-01	25	215	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.850000	1.000000	1.000000	0.989973	0.990000	1	9.900000e-01	1
SLC25A26	115286	broad.mit.edu	37	3	66313765	66313765	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66313765G>A	ENST00000413054.1	+	3	225	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	SLC25A26_ENST00000354883.6_Missense_Mutation_p.G139R|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.G51R			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26			8		Lung NSC(201;0.00774)			GGGTATCCAAGGGTTGTATCG	0.388000																								0							SO:0001583	missense			ENST00000413054.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	20.8	4.046055	0.75846	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	D;D	0.83163	-1.69;-1.69	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.103920	0.64402	D	0.000003	D	0.91650	0.7361	M	0.88031	2.925	0.80722	D	1	P;P	0.49253	0.84;0.921	P;P	0.56960	0.622;0.81	D	0.92796	0.6252	10	0.87932	D	0	-15.2225	19.4905	0.95048	0.0:0.0:1.0:0.0	.	139;139	F8WAB8;Q70HW3	.;SAMC_HUMAN	R	139;51	ENSP00000346955:G139R;ENSP00000336801:G51R	ENSP00000336801:G51R	G	+	1	0	SLC25A26	66396455	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	8.689000	0.91265	2.601000	0.87937	0.585000	0.79938	GGG		TCGA-IB-7651-01A-11D-2154-08	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000313895.2	1	0	1	16	72	0	15	1	9.999993e-01	38	96	0	15	2		0	0	0	0	0	2	1	9.999586e-01	16	71	0	15	2								-3.279401	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999705	0.990000	1	9.900000e-01	1
LRIG1	26018	broad.mit.edu	37	3	66431186	66431186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66431186G>A	ENST00000273261.3	-	18	3394	c.2870C>T	c.(2869-2871)gCa>gTa	p.A957V	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A934V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1			42		Lung NSC(201;0.0101)			ACTTGGCTGTGCGCTGTCTCT	0.632000																								0							SO:0001583	missense			ENST00000273261.3	1	1	hg19	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224411	0.09863	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.63744	-0.06;-0.03	5.55	-0.703	0.11261	.	1.630420	0.03007	N	0.148949	T	0.50565	0.1623	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.22626	-1.0211	10	0.29301	T	0.29	.	7.8908	0.29677	0.2123:0.3433:0.4444:0.0	.	934;957;957	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	V	957;934;860	ENSP00000273261:A957V;ENSP00000373208:A934V	ENSP00000273261:A957V	A	-	2	0	LRIG1	66513876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.156000	0.16382	-0.478000	0.06823	-1.316000	0.01300	GCA		TCGA-IB-7651-01A-11D-2154-08	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	1	0	0	21	446	0	86	1	9.824173e-01	8	132	0	86	2		0	0	0	0	0	2	1	9.999969e-01	21	434	0	83	2								-19.952280	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.540000	0.340000	1.000000	0.520000	0.574643	0.540000	0	4.300000e-01	6.900000e-01
LRIG1	26018	broad.mit.edu	37	3	66436706	66436706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66436706C>T	ENST00000273261.3	-	13	2012	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Silent_p.Q520Q	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1			42		Lung NSC(201;0.0101)			GGGTGATGATCTGTGGCTTCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000273261.3	1	1	hg19	CCDS33783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	0	0	0	177	783	0	202	1	1	37	93	0	202	2		0	0	0	0	0	2	1	1	169	766	0	199	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRIG1	26018	broad.mit.edu	37	3	66467583	66467583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66467583C>T	ENST00000273261.3	-	4	997	c.473G>A	c.(472-474)tGc>tAc	p.C158Y	LRIG1_ENST00000383703.3_Missense_Mutation_p.C158Y	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1			42		Lung NSC(201;0.0101)			GTGTGGAAAGCAGGTGTTCCG	0.552000																								0							SO:0001583	missense			ENST00000273261.3	1	1	hg19	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844997	0.51164	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58652	0.32;0.32	5.89	5.89	0.94794	.	0.104215	0.64402	D	0.000002	T	0.43277	0.1240	N	0.16130	0.375	0.50171	D	0.999854	B;B	0.29612	0.251;0.171	B;B	0.30179	0.112;0.105	T	0.37888	-0.9686	10	0.44086	T	0.13	.	15.6916	0.77457	0.0:0.8637:0.1363:0.0	.	158;158	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	Y	158;158;85	ENSP00000273261:C158Y;ENSP00000373208:C158Y	ENSP00000273261:C158Y	C	-	2	0	LRIG1	66550273	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.829000	0.48128	2.792000	0.96026	0.643000	0.83706	TGC		TCGA-IB-7651-01A-11D-2154-08	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	0	0	1	233	961	0	219	1	1	45	82	0	219	2		0	0	0	0	0	2	1	1	230	947	0	218	2								-20.000000	1	1	121412	6	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KBTBD8	84541	broad.mit.edu	37	3	67054530	67054530	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67054530G>T	ENST00000417314.2	+	3	1188	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R354I|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8			20		Lung NSC(201;0.0765)			CTTCGAGCCAGAATAGGCTGC	0.433000																								0							SO:0001583	missense			ENST00000417314.2	1	1	hg19	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530339	0.85706	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.79352	-1.26;-1.26	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.043526	0.85682	D	0.000000	D	0.91088	0.7195	H	0.96269	3.795	0.80722	D	1	D	0.53462	0.96	P	0.57776	0.827	D	0.93569	0.6902	9	.	.	.	.	19.4459	0.94847	0.0:0.0:1.0:0.0	.	380	Q8NFY9	KBTB8_HUMAN	I	354;380	ENSP00000295568:R354I;ENSP00000401878:R380I	.	R	+	2	0	KBTBD8	67137220	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.772000	0.98984	2.676000	0.91093	0.557000	0.71058	AGA		TCGA-IB-7651-01A-11D-2154-08	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	1	0	1	115	477	0	142	1	4.098728e-01	2	5	0	142	2		0	0	0	0	0	2	1	1	114	471	0	141	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KBTBD8	84541	broad.mit.edu	37	3	67058487	67058487	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67058487G>A	ENST00000417314.2	+	4	1533	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R469H|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8			20		Lung NSC(201;0.0765)			AATCATCAACGTATGTTTACT	0.403000																								0							SO:0001583	missense			ENST00000417314.2	1	1	hg19	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684935	0.47991	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.78481	-1.18;-1.18;-1.18	5.47	5.47	0.80525	Kelch-type beta propeller (1);	0.735555	0.13839	N	0.359220	D	0.86251	0.5888	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.80030	-0.1553	10	0.11182	T	0.66	.	19.3339	0.94307	0.0:0.0:1.0:0.0	.	53;495	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	H	469;53;495	ENSP00000295568:R469H;ENSP00000419738:R53H;ENSP00000401878:R495H	ENSP00000295568:R469H	R	+	2	0	KBTBD8	67141177	1.000000	0.71417	0.766000	0.31476	0.950000	0.60333	9.869000	0.99810	2.575000	0.86900	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	1	0	1	91	431	0	125	0	6.465075e-01	1	11	0	125	2		0	0	0	0	0	2	1	1	91	422	0	125	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM7	2917	broad.mit.edu	37	3	6903264	6903264	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903264C>T	ENST00000357716.4	+	1	463	c.189C>T	c.(187-189)agC>agT	p.S63S	GRM7_ENST00000486284.1_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S|GRM7_ENST00000403881.1_Silent_p.S63S|GRM7_ENST00000402647.2_Silent_p.S63S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7			76					AGGGTCCCAGCGGAGTGCCCT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000357716.4	0	1	hg19	CCDS43042.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	1	12	78	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.992916e-01	12	77	0	20	2								-19.814970	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.870000	1.000000	1.000000	0.992535	0.990000	1	9.900000e-01	1
GRM7	2917	broad.mit.edu	37	3	6903328	6903328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903328G>A	ENST00000357716.4	+	1	527	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	GRM7_ENST00000486284.1_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T|GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000402647.2_Missense_Mutation_p.A85T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7			76					GATGCTCTACGCCCTGGACCA	0.632000																								0							SO:0001583	missense			ENST00000357716.4	1	1	hg19	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740907	0.89573	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.95487	0.8534	L	0.56340	1.77	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.85	D;D;B	0.80764	0.99;0.994;0.343	D	0.94407	0.7628	10	0.33141	T	0.24	.	17.462	0.87622	0.0:0.0:1.0:0.0	.	85;85;85	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	T	85	ENSP00000350348:A85T;ENSP00000417536:A85T;ENSP00000373987:A85T;ENSP00000385664:A85T;ENSP00000384585:A85T	ENSP00000350348:A85T	A	+	1	0	GRM7	6878328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.649000	0.98487	2.448000	0.82819	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	1	17	114	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.999766e-01	17	114	0	31	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.940000	1.000000	1.000000	0.996150	0.990000	1	9.900000e-01	1
GRM7	2917	broad.mit.edu	37	3	6903438	6903438	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903438T>G	ENST00000357716.4	+	1	637	c.363T>G	c.(361-363)acT>acG	p.T121T	GRM7_ENST00000486284.1_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T|GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000402647.2_Silent_p.T121T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7			76					AGTCGCTTACTTTCGTCCAGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000357716.4	1	1	hg19	CCDS43042.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	1	62	242	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	62	239	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMF1	7110	broad.mit.edu	37	3	69087861	69087861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69087861C>A	ENST00000398559.2	-	8	2221	c.2005G>T	c.(2005-2007)Gat>Tat	p.D669Y	TMF1_ENST00000543976.1_Missense_Mutation_p.D672Y|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1			22		Lung NSC(201;0.0193)|Prostate(884;0.174)			TTGTGAAGATCAGTAAGTTCT	0.358000																								0							SO:0001583	missense			ENST00000398559.2	1	1	hg19	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421412	0.83559	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.20738	2.05;2.05	5.72	5.72	0.89469	.	0.047409	0.85682	D	0.000000	T	0.42675	0.1213	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.70935	0.971;0.851	T	0.14980	-1.0453	10	0.72032	D	0.01	-21.9043	19.8709	0.96851	0.0:1.0:0.0:0.0	.	672;669	P82094-2;P82094	.;TMF1_HUMAN	Y	669;672;585	ENSP00000381567:D669Y;ENSP00000438706:D672Y	ENSP00000348582:D585Y	D	-	1	0	TMF1	69170551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	2.698000	0.92095	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	1	0	1	100	448	0	98	1	1	20	127	0	98	2		0	0	0	0	0	2	1	1	98	435	0	98	2								-3.394788	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMF1	7110	broad.mit.edu	37	3	69097140	69097140	+	Missense_Mutation	SNP	C	C	T	rs73110228	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69097140C>T	ENST00000398559.2	-	2	932	c.716G>A	c.(715-717)aGc>aAc	p.S239N	TMF1_ENST00000543976.1_Missense_Mutation_p.S239N|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|MIR3136_ENST00000583498.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1			22		Lung NSC(201;0.0193)|Prostate(884;0.174)			AGGTGTATTGCTCTGCCTGTC	0.393000																								0							SO:0001583	missense			ENST00000398559.2	1	0	hg19	CCDS43105.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	C	8.293	0.818176	0.16607	0.00154	0.00446	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.78595	-1.19;-1.19	5.72	4.84	0.62591	.	0.113904	0.85682	D	0.000000	T	0.68659	0.3025	L	0.47190	1.495	0.47245	D	0.999362	B;B	0.24920	0.114;0.069	B;B	0.31946	0.138;0.065	T	0.68488	-0.5395	10	0.33940	T	0.23	-10.1783	16.9045	0.86123	0.0:0.872:0.128:0.0	.	239;239	P82094-2;P82094	.;TMF1_HUMAN	N	239;239;152;239	ENSP00000381567:S239N;ENSP00000438706:S239N	ENSP00000348582:S152N	S	-	2	0	TMF1	69179830	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	3.110000	0.50352	1.417000	0.47077	0.644000	0.83932	AGC		TCGA-IB-7651-01A-11D-2154-08	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	0	0	1	84	405	0	88	1	9.999998e-01	29	79	0	88	2		0	0	0	0	0	2	1	1	83	398	0	86	2								-3.238771	1	1	120878	488	60	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMOD3	56203	broad.mit.edu	37	3	69168087	69168087	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69168087C>T	ENST00000420581.2	-	2	1598	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	LMOD3_ENST00000475434.1_Silent_p.S473S|LMOD3_ENST00000489031.1_Silent_p.S473S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)			13		Lung NSC(201;0.0193)|Prostate(884;0.174)			TCGGGGCCTGCGATGGCTTTT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000420581.2	1	1	hg19	CCDS46862.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	1	0	1	33	150	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	33	146	0	42	2								-20.000000	1	1	121010	2	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
LMOD3	56203	broad.mit.edu	37	3	69169146	69169146	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69169146T>G	ENST00000420581.2	-	2	539	c.360A>C	c.(358-360)aaA>aaC	p.K120N	LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N|LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)			13		Lung NSC(201;0.0193)|Prostate(884;0.174)			TGAGCTTTTCTTTTAAATACT	0.328000																								0							SO:0001583	missense			ENST00000420581.2	1	1	hg19	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	T	8.956	0.969269	0.18659	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.42513	0.97;0.97;0.97	5.43	1.65	0.23941	.	1.267940	0.04832	N	0.438860	T	0.42630	0.1211	L	0.57536	1.79	0.19300	N	0.99997	B	0.32010	0.351	B	0.40329	0.326	T	0.32348	-0.9910	10	0.19590	T	0.45	-30.8145	3.7605	0.08602	0.2288:0.2411:0.0:0.5301	.	120	Q0VAK6	LMOD3_HUMAN	N	120	ENSP00000414670:K120N;ENSP00000417210:K120N;ENSP00000418645:K120N	ENSP00000414670:K120N	K	-	3	2	LMOD3	69251836	0.012000	0.17670	0.999000	0.59377	0.752000	0.42762	0.255000	0.18333	0.363000	0.24346	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	1	0	0	14	69	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.998303e-01	13	69	0	15	2								-10.444750	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999036	0.990000	1	9.900000e-01	1
MITF	4286	broad.mit.edu	37	3	69928347	69928347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69928347G>A	ENST00000448226.2	+	2	294	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000352241.4_Missense_Mutation_p.R56H|MITF_ENST00000328528.6_Missense_Mutation_p.R55H|MITF_ENST00000314589.5_Missense_Mutation_p.R40H			O75030	MITF_HUMAN	microphthalmia-associated transcription factor			30		Lung NSC(201;0.0384)|Prostate(884;0.0526)			ATGACATCACGCATCTTGCTA	0.557000			A		melanoma		Waardenburg syndrome type 2, Tietz syndrome						Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0							SO:0001583	missense			ENST00000448226.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.8	4.571489	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T;T	0.63255	1.27;0.82;0.29;-0.03;0.12;0.59;1.41;0.32	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.98;0.997;0.997;0.997;0.991	T	0.81824	-0.0755	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	4;31;40;55;56	E9PFN0;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.	H	56;56;4;4;4;55;55;40;40;31	ENSP00000295600:R56H;ENSP00000391803:R56H;ENSP00000418845:R4H;ENSP00000391276:R55H;ENSP00000327867:R55H;ENSP00000398639:R40H;ENSP00000324443:R40H;ENSP00000377884:R31H	.	R	+	2	0	MITF	70011037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.814000	0.96858	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	1	0	1	62	239	0	50	0	9.965353e-01	1	35	0	50	2		0	0	0	0	0	2	1	1	60	238	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MITF	4286	broad.mit.edu	37	3	69990401	69990401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69990401C>T	ENST00000448226.2	+	5	808	c.681C>T	c.(679-681)atC>atT	p.I227I	MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000352241.4_Silent_p.I227I|MITF_ENST00000314557.6_Silent_p.I120I|MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000314589.5_Silent_p.I211I			O75030	MITF_HUMAN	microphthalmia-associated transcription factor			30		Lung NSC(201;0.0384)|Prostate(884;0.0526)			ATGATGTAATCGATGACATCA	0.343000			A		melanoma		Waardenburg syndrome type 2, Tietz syndrome						Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0							SO:0001819	synonymous_variant			ENST00000448226.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	1	0	1	39	158	0	32	1	9.988105e-01	2	43	0	32	2		0	0	0	0	0	2	1	1	38	157	0	32	2								-19.999900	1	1	121406	2	37	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MITF	4286	broad.mit.edu	37	3	70014281	70014281	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014281A>G	ENST00000448226.2	+	10	1590	c.1463A>G	c.(1462-1464)gAc>gGc	p.D488G	MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000352241.4_Missense_Mutation_p.D482G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G|MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G			O75030	MITF_HUMAN	microphthalmia-associated transcription factor			30		Lung NSC(201;0.0384)|Prostate(884;0.0526)			CTGATGGACGACACCCTTTCT	0.532000			A		melanoma		Waardenburg syndrome type 2, Tietz syndrome						Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0							SO:0001583	missense			ENST00000448226.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	17.25	3.341746	0.61073	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.84585	2.705	0.58432	D	0.999997	D;D;D;D;D;D;P	0.60575	0.988;0.969;0.969;0.968;0.968;0.968;0.936	D;P;P;P;P;P;P	0.62955	0.909;0.688;0.688;0.734;0.734;0.853;0.693	D	0.86112	0.1563	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	430;381;375;457;466;481;482	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	G	482;488;430;481;466;457;375;381;319	ENSP00000295600:D482G;ENSP00000391803:D488G;ENSP00000418845:D430G;ENSP00000327867:D481G;ENSP00000324443:D466G;ENSP00000377884:D457G;ENSP00000324246:D375G;ENSP00000377880:D381G;ENSP00000435909:D319G	.	D	+	2	0	MITF	70096971	1.000000	0.71417	0.909000	0.35828	0.415000	0.31203	6.073000	0.71245	2.371000	0.80710	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	1	0	1	76	287	0	68	1	9.999988e-01	8	70	0	68	2		0	0	0	0	0	2	1	1	73	282	0	67	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MITF	4286	broad.mit.edu	37	3	70014328	70014328	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014328T>C	ENST00000448226.2	+	10	1637	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000352241.4_Missense_Mutation_p.S498P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P|MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P			O75030	MITF_HUMAN	microphthalmia-associated transcription factor			30		Lung NSC(201;0.0384)|Prostate(884;0.0526)			TTCCTCAGTGTCCCCCGGAGC	0.532000			A		melanoma		Waardenburg syndrome type 2, Tietz syndrome						Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0							SO:0001583	missense			ENST00000448226.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	24.8	4.571044	0.86542	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.994;0.996;0.996;0.994;0.991;0.998	D	0.90812	0.4702	9	.	.	.	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	446;397;391;473;482;497;498	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	P	498;504;446;497;482;473;391;397;335	ENSP00000295600:S498P;ENSP00000391803:S504P;ENSP00000418845:S446P;ENSP00000327867:S497P;ENSP00000324443:S482P;ENSP00000377884:S473P;ENSP00000324246:S391P;ENSP00000377880:S397P;ENSP00000435909:S335P	.	S	+	1	0	MITF	70097018	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	TCC		TCGA-IB-7651-01A-11D-2154-08	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	1	0	1	85	345	0	87	1	9.978551e-01	7	33	0	87	2		0	0	0	0	0	2	1	1	83	338	0	85	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXP1	27086	broad.mit.edu	37	3	71008431	71008431	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71008431G>A	ENST00000318789.4	-	21	2526	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	FOXP1_ENST00000475937.1_Silent_p.Y667Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1			31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)			GTTCATCTTCGTAATCTCTGT	0.478000			T	PAX5	ALL										Dom	yes		3	3p14.1	27086	forkhead box P1		L	0							SO:0001819	synonymous_variant			ENST00000318789.4	1	1	hg19	CCDS2914.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	1	0	0	100	516	0	117	1	1	34	136	0	117	2		0	0	0	0	0	2	1	1	95	506	1	117	18								-20.000000	1	1	121412	9	43	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXP1	27086	broad.mit.edu	37	3	71026839	71026839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71026839G>A	ENST00000318789.4	-	16	1908	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	FOXP1_ENST00000475937.1_Silent_p.N461N|FOXP1_ENST00000498215.1_Silent_p.N461N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000493089.1_Silent_p.N460N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1			31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)			TAACTTCTGCGTTCTTATAAA	0.338000			T	PAX5	ALL										Dom	yes		3	3p14.1	27086	forkhead box P1		L	0							SO:0001819	synonymous_variant			ENST00000318789.4	1	1	hg19	CCDS2914.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	0	0	1	70	303	0	73	1	1	40	138	0	73	2		0	0	0	0	0	2	1	1	69	299	0	72	2								-20.000000	1	1	121412	6	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXP1	27086	broad.mit.edu	37	3	71096168	71096168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71096168G>T	ENST00000318789.4	-	10	1114	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1			31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)			TGCAAAGACAGGAGGTGCTGC	0.517000			T	PAX5	ALL										Dom	yes		3	3p14.1	27086	forkhead box P1		L	0							SO:0001583	missense			ENST00000318789.4	1	1	hg19	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118467	0.77323	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.49139	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.62;0.79	6.03	4.23	0.50019	.	0.226640	0.38959	N	0.001509	T	0.66208	0.2766	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.995;0.995	D;D;D;D	0.78314	0.991;0.986;0.969;0.969	T	0.67612	-0.5626	10	0.54805	T	0.06	.	13.3988	0.60870	0.1291:0.0:0.8709:0.0	.	196;197;121;197	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	M	197;97;197;197;93;199;197;197;121;197;97;97	ENSP00000318902:L197M;ENSP00000419393:L197M;ENSP00000418225:L93M;ENSP00000420736:L199M;ENSP00000418524:L197M;ENSP00000418102:L197M;ENSP00000417857:L121M;ENSP00000418883:L197M;ENSP00000417941:L97M;ENSP00000418784:L97M	ENSP00000318902:L197M	L	-	1	2	FOXP1	71178858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.976000	0.63785	0.855000	0.35359	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	0	0	1	208	722	1	171	1	9.999926e-01	24	45	1	171	3		0	0	0	0	0	2	1	1	205	714	1	170	19								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHQ1	55164	broad.mit.edu	37	3	72890250	72890250	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:72890250C>T	ENST00000325599.8	-	4	571	c.432G>A	c.(430-432)ccG>ccA	p.P144P	SHQ1_ENST00000463369.1_Silent_p.P116P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor			27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)			AGTGGCACTGCGGATTCAAAG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000325599.8	1	1	hg19	CCDS33788.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	1	0	1	112	551	0	129	1	9.978579e-01	15	32	0	129	2		0	0	0	0	0	2	1	1	112	537	0	128	2								-3.152698	1	1	121412	1	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EBLN2	55096	broad.mit.edu	37	3	73111947	73111947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73111947G>A	ENST00000533473.1	+	1	1138	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2			6					TGCAGAATCAGCCATAGGTTG	0.443000																								0							SO:0001583	missense			ENST00000533473.1	1	1	hg19	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810902	0.32053	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.468	0.468	0.16732	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.40498	0.1119	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	D	0.66602	0.945	T	0.22906	-1.0203	7	0.87932	D	0	.	.	.	.	.	239	Q6P2I7	EBLN2_HUMAN	T	239	.	ENSP00000432104:A239T	A	+	1	0	EBLN2	73194637	0.039000	0.19947	0.004000	0.12327	0.004000	0.04260	0.364000	0.20325	0.488000	0.27723	0.491000	0.48974	GCC		TCGA-IB-7651-01A-11D-2154-08	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	0	0	1	144	699	0	186	0	2.961378e-02	0	2	0	186	2		0	0	0	0	0	2	1	1	141	690	0	185	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDZRN3	23024	broad.mit.edu	37	3	73432936	73432936	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73432936G>A	ENST00000263666.4	-	10	2895	c.2781C>T	c.(2779-2781)agC>agT	p.S927S	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000466780.1_Silent_p.S584S|PDZRN3_ENST00000479530.1_Silent_p.S644S|PDZRN3_ENST00000462146.2_Silent_p.S584S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			GCGTCCCGTCGCTGCGGATCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000263666.4	1	1	hg19	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.606|5.606	0.296515|0.296515	0.10622|0.10622	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000416926	.|.	.|.	.|.	5.4|5.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|.	0.58850|.	0.2151|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53809|.	-0.8386|.	4|.	.|0.36615	.|T	.|0.2	.|.	9.4405|9.4405	0.38666|0.38666	0.3016:0.0:0.6984:0.0|0.3016:0.0:0.6984:0.0	.|.	.|.	.|.	.|.	V|X	243|647	.|.	.|ENSP00000392657:R647X	A|R	-|-	2|1	0|2	PDZRN3|PDZRN3	73515626|73515626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	0.602000|0.602000	0.24134|0.24134	0.633000|0.633000	0.30452|0.30452	0.655000|0.655000	0.94253|0.94253	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	0	73	319	0	46	0	9.887349e-01	0	33	0	46	2		0	0	0	0	0	2	1	1	72	311	0	44	2								-20.000000	1	1	121406	1	25	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDZRN3	23024	broad.mit.edu	37	3	73433199	73433199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433199G>A	ENST00000263666.4	-	10	2632	c.2518C>T	c.(2518-2520)Cgg>Tgg	p.R840W	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R557W|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			CTGGCTCTCCGCTCTTTGCTT	0.637000																								0							SO:0001583	missense			ENST00000263666.4	1	1	hg19	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	7.632	0.679032	0.14841	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.11495	2.77;3.48;3.38;3.38;3.49	5.16	-1.19	0.09585	.	3.246850	0.00914	N	0.002509	T	0.31857	0.0810	M	0.70595	2.14	0.20074	N	0.999931	D;D;D;D	0.89917	0.993;0.999;0.995;1.0	P;P;P;D	0.66084	0.84;0.708;0.462;0.941	T	0.38001	-0.9681	10	0.87932	D	0	.	10.5668	0.45177	0.0:0.0834:0.333:0.5836	.	562;557;557;840	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	W	840;562;497;497;557	ENSP00000263666:R840W;ENSP00000442026:R562W;ENSP00000418168:R497W;ENSP00000418484:R497W;ENSP00000418624:R557W	ENSP00000263666:R840W	R	-	1	2	PDZRN3	73515889	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.037000	0.13840	-0.126000	0.11682	-0.175000	0.13238	CGG		TCGA-IB-7651-01A-11D-2154-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1	100	390	0	98	0	9.995885e-01	0	47	0	98	2		0	0	0	0	0	2	1	1	97	380	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDZRN3	23024	broad.mit.edu	37	3	73433317	73433317	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433317G>T	ENST00000263666.4	-	10	2514	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000462146.2_Silent_p.A457A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			CTGGCCCGTAGGCTTCCGTGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000263666.4	0	1	hg19	CCDS33789.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	0	0	7	395	0	59	0	1.103852e-01	0	28	0	59	2		0	0	0	0	0	2	1	9.791942e-01	7	386	0	58	2								-6.971014	1	0	121412	1	24	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.220000	0.090000	1.000000	0.210000	0.274448	0.220000	0	1.400000e-01	3.300000e-01
PDZRN3	23024	broad.mit.edu	37	3	73433639	73433639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433639C>T	ENST00000263666.4	-	10	2192	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R410H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			CTCGATGCTGCGCAGCTCTTC	0.632000																								0							SO:0001583	missense			ENST00000263666.4	1	1	hg19	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189810	0.57909	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.18657	2.2;2.94;2.86;2.86;2.96;2.83	5.01	5.01	0.66863	.	0.053685	0.85682	D	0.000000	T	0.25606	0.0623	L	0.52206	1.635	0.80722	D	1	P;B;B;B	0.45283	0.855;0.163;0.373;0.163	P;B;B;B	0.46144	0.505;0.021;0.066;0.021	T	0.01159	-1.1433	10	0.49607	T	0.09	.	11.4627	0.50219	0.0:0.9168:0.0:0.0832	.	415;410;410;693	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	693;415;350;350;410;391	ENSP00000263666:R693H;ENSP00000442026:R415H;ENSP00000418168:R350H;ENSP00000418484:R350H;ENSP00000418624:R410H;ENSP00000419250:R391H	ENSP00000263666:R693H	R	-	2	0	PDZRN3	73516329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.866000	0.69590	2.324000	0.78689	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1	53	229	0	43	0	9.958579e-01	0	39	0	43	2		0	0	0	0	0	2	1	1	51	228	0	43	2								-20.000000	1	1	121412	1	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDZRN3	23024	broad.mit.edu	37	3	73434832	73434832	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73434832G>A	ENST00000263666.4	-	9	1737	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000466780.1_Silent_p.S198S|PDZRN3_ENST00000479530.1_Silent_p.S258S|PDZRN3_ENST00000462146.2_Silent_p.S198S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			GCTGCAGCACGCTAGCTGTGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000263666.4	1	1	hg19	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092566	0.08632	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.58	-1.85	0.07784	.	.	.	.	.	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51733	-0.8668	4	.	.	.	.	11.2905	0.49247	0.4454:0.0:0.5546:0.0	.	.	.	.	V	138	.	.	A	-	2	0	PDZRN3	73517522	1.000000	0.71417	0.028000	0.17463	0.442000	0.32017	0.853000	0.27777	-0.792000	0.04480	-0.812000	0.03155	GCG		TCGA-IB-7651-01A-11D-2154-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	0	18	432	0	70	0	4.163902e-01	0	34	0	70	2		0	0	0	0	0	2	1	9.999814e-01	18	428	0	69	2								-3.111364	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.480000	0.290000	1.000000	0.460000	0.520575	0.480000	0	3.800000e-01	6.300000e-01
CNTN3	5067	broad.mit.edu	37	3	74418379	74418379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418379G>A	ENST00000263665.6	-	7	934	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)			83		Lung NSC(201;0.138)|Lung SC(41;0.21)			TTTTTTCCTCGTGAATTCTCA	0.398000																								0							SO:0001587	stop_gained			ENST00000263665.6	0	1	hg19	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	36	5.931654	0.97116	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.01	1.64	0.23874	.	0.062472	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1043	0.59239	0.0:0.0:0.4209:0.5791	.	.	.	.	X	303	.	ENSP00000263665:R303X	R	-	1	2	CNTN3	74501069	0.988000	0.35896	0.957000	0.39632	0.991000	0.79684	2.049000	0.41288	0.429000	0.26202	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	1	23	162	0	44	0	8.461914e-02	0	4	0	44	2		0	0	0	0	0	2	1	9.999995e-01	23	159	0	44	2								-11.815810	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.997455	0.990000	1	9.900000e-01	1
CNTN3	5067	broad.mit.edu	37	3	74418390	74418390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418390G>T	ENST00000263665.6	-	7	923	c.896C>A	c.(895-897)gCt>gAt	p.A299D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)			83		Lung NSC(201;0.138)|Lung SC(41;0.21)			TGAATTCTCAGCAATGCATTC	0.428000																								0							SO:0001583	missense			ENST00000263665.6	1	1	hg19	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376990	0.82682	.	.	ENSG00000113805	ENST00000263665	T	0.76968	-1.06	5.05	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.059653	0.64402	D	0.000002	D	0.91831	0.7415	H	0.96861	3.895	0.50467	D	0.999876	D	0.89917	1.0	D	0.80764	0.994	D	0.94446	0.7663	10	0.87932	D	0	.	15.5641	0.76277	0.0:0.1382:0.8618:0.0	.	299	Q9P232	CNTN3_HUMAN	D	299	ENSP00000263665:A299D	ENSP00000263665:A299D	A	-	2	0	CNTN3	74501080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.000000	0.93564	1.117000	0.41842	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	1	26	169	0	51	0	5.249598e-02	0	3	0	51	2		0	0	0	0	0	2	1	9.999999e-01	26	167	0	51	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999250	0.990000	1	9.900000e-01	1
CNTN3	5067	broad.mit.edu	37	3	74420531	74420531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74420531G>A	ENST00000263665.6	-	5	501	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)			83		Lung NSC(201;0.138)|Lung SC(41;0.21)			ATTCATTGAAGATCCAAGCAT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000263665.6	1	1	hg19	CCDS33790.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	1	28	178	0	61	0	5.413008e-02	0	3	0	61	2		0	0	0	0	0	2	1	1	28	174	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999569	0.990000	1	9.900000e-01	1
ROBO2	6092	broad.mit.edu	37	3	75986709	75986709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75986709T>C	ENST00000487694.3	+	2	344	c.65T>C	c.(64-66)aTg>aCg	p.M22T		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)			117					CTGTTGATGATGACTGTGGTG	0.463000																								0							SO:0001583	missense			ENST00000487694.3	1	1	hg19	CCDS54609.1	.	.	.	.	.	.	.	.	.	.	T	0.582	-0.836472	0.02692	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019	T	0.60797	0.16	4.5	3.33	0.38152	.	.	.	.	.	T	0.41351	0.1155	N	0.08118	0	0.19945	N	0.999947	.	.	.	.	.	.	T	0.53725	-0.8398	6	0.87932	D	0	.	9.5773	0.39465	0.0:0.0946:0.0:0.9054	.	.	.	.	T	22	ENSP00000417335:M22T	ENSP00000342509:M22T	M	+	2	0	ROBO2	76069399	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	1.998000	0.40796	0.306000	0.22856	-1.525000	0.00928	ATG		TCGA-IB-7651-01A-11D-2154-08	ROBO2-013	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000467720.1	0	0	0	10	103	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.960909e-01	9	96	0	28	2								-16.208810	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.560000	1.000000	1.000000	0.923008	0.990000	1	7.800000e-01	1
GRM7	2917	broad.mit.edu	37	3	7620460	7620460	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620460G>T	ENST00000357716.4	+	8	2141	c.1867G>T	c.(1867-1869)Gca>Tca	p.A623S	GRM7_ENST00000486284.1_Missense_Mutation_p.A623S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S|GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7			76					CATTGTCCGGGCATCTGGGCG	0.502000																								0							SO:0001583	missense			ENST00000357716.4	1	1	hg19	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076362	0.76415	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94361	0.8187	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.99;0.999;0.992;1.0	D;D;D;D;D	0.97110	0.992;0.98;0.996;0.989;1.0	D	0.93418	0.6774	10	0.46703	T	0.11	.	18.9177	0.92512	0.0:0.0:1.0:0.0	.	623;623;378;623;623	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	S	623	ENSP00000350348:A623S;ENSP00000417536:A623S;ENSP00000373987:A623S;ENSP00000385664:A623S;ENSP00000384585:A623S	ENSP00000350348:A623S	A	+	1	0	GRM7	7595460	1.000000	0.71417	0.988000	0.46212	0.462000	0.32619	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	0	66	676	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1	64	664	1	150	17								-17.161670	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.820000	1.000000	1.000000	0.976873	0.990000	1	9.300000e-01	1
GRM7	2917	broad.mit.edu	37	3	7620618	7620618	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620618G>A	ENST00000357716.4	+	8	2299	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	GRM7_ENST00000486284.1_Silent_p.T675T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.T675T|GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000402647.2_Silent_p.T675T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7			76					CCCTCTTGACGAAAACAAATC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000357716.4	1	1	hg19	CCDS43042.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	0	0	0	36	317	1	71		0	0	0	1	71	2		0	0	0	0	0	2	1	9.972748e-01	36	310	1	70	17								-13.050630	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.870000	1.000000	1.000000	0.990932	0.990000	1	9.900000e-01	1
GRM7	2917	broad.mit.edu	37	3	7620670	7620670	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620670G>A	ENST00000357716.4	+	8	2351	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	GRM7_ENST00000486284.1_Missense_Mutation_p.A693T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T|GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7			76					ATCAGTAACAGCTCCCAGACT	0.438000																								0							SO:0001583	missense			ENST00000357716.4	1	1	hg19	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054986	0.36277	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.43152	1.355	0.51233	D	0.999911	B;P;P;P;P	0.43938	0.151;0.59;0.822;0.643;0.731	B;B;P;P;B	0.53360	0.21;0.282;0.724;0.459;0.438	D	0.89714	0.3914	10	0.48119	T	0.1	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	693;693;448;693;693	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	693	ENSP00000350348:A693T;ENSP00000417536:A693T;ENSP00000373987:A693T;ENSP00000385664:A693T;ENSP00000384585:A693T	ENSP00000350348:A693T	A	+	1	0	GRM7	7595670	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	6.396000	0.73234	2.941000	0.99782	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	1	47	204	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	47	199	0	53	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM7	2917	broad.mit.edu	37	3	7620917	7620917	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620917T>C	ENST00000357716.4	+	8	2598	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	GRM7_ENST00000486284.1_Missense_Mutation_p.I775T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T|GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000402647.2_Missense_Mutation_p.I775T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7			76					GTGTATGCCATCAAGACTCGG	0.433000																								0							SO:0001583	missense			ENST00000357716.4	1	1	hg19	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847396	0.71603	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.65975	2.015	0.58432	D	0.999999	P;D;D;D;P	0.69078	0.621;0.989;0.997;0.968;0.947	P;D;D;D;P	0.80764	0.593;0.985;0.994;0.969;0.747	D	0.94088	0.7350	10	0.87932	D	0	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	775;775;530;775;775	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	T	775	ENSP00000350348:I775T;ENSP00000417536:I775T;ENSP00000373987:I775T;ENSP00000385664:I775T;ENSP00000384585:I775T	ENSP00000350348:I775T	I	+	2	0	GRM7	7595917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	1	0	1	78	287	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1	76	286	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO2	6092	broad.mit.edu	37	3	77147265	77147265	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77147265G>A	ENST00000461745.1	+	2	1062	c.162G>A	c.(160-162)gcG>gcA	p.A54A	ROBO2_ENST00000487694.3_Silent_p.A70A|ROBO2_ENST00000332191.8_Silent_p.A54A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)			117					ACTGCAAGGCGGAGGGCCGGC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000461745.1	1	1	hg19	CCDS43109.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	1	0	0	13	219	0	43	0	1.093881e-02	0	3	0	43	2		0	0	0	0	0	2	1	9.994681e-01	13	211	0	40	2								-3.323781	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.680000	0.380000	1.000000	1.000000	0.705634	0.680000	0	5.100000e-01	9.200000e-01
ROBO2	6092	broad.mit.edu	37	3	77645811	77645811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77645811C>T	ENST00000461745.1	+	19	3664	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S|ROBO2_ENST00000332191.8_Missense_Mutation_p.P922S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)			117					TCCCAGCTATCCATGGCTTGC	0.458000																								0							SO:0001583	missense			ENST00000461745.1	1	1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182120	0.78677	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.67698	-0.28;-0.24;-0.18	6.16	6.16	0.99307	.	0.000000	0.45606	D	0.000341	D	0.83422	0.5251	M	0.76838	2.35	0.32123	N	0.587765	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	T	0.81420	-0.0941	9	0.46703	T	0.11	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	938;922;922	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	938;938;942;922;922	ENSP00000417335:P938S;ENSP00000417164:P922S;ENSP00000327536:P922S	ENSP00000327536:P922S	P	+	1	0	ROBO2	77728501	1.000000	0.71417	0.990000	0.47175	0.906000	0.53458	7.270000	0.78493	2.937000	0.99478	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	1	0	1	133	581	0	124	0	4.577318e-01	0	8	0	124	2		0	0	0	0	0	2	1	1	127	577	0	124	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO2	6092	broad.mit.edu	37	3	77671486	77671486	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77671486C>T	ENST00000461745.1	+	23	4563	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	ROBO2_ENST00000487694.3_Silent_p.A1237A|ROBO2_ENST00000332191.8_Silent_p.A1221A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)			117					ATGATGATGCCGACGACGAAG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000461745.1	1	1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.305500	0.01353	.	.	ENSG00000185008	ENST00000475334	.	.	.	5.56	0.436	0.16549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1656	0.03836	0.1058:0.2915:0.1526:0.4501	.	.	.	.	X	53	.	.	R	+	1	2	ROBO2	77754176	0.971000	0.33674	0.854000	0.33618	0.003000	0.03518	-1.082000	0.03400	-0.148000	0.11234	-1.874000	0.00550	CGA		TCGA-IB-7651-01A-11D-2154-08	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	1	0	1	61	287	0	79	0	7.668212e-01	0	15	0	79	2		0	0	0	0	0	2	1	1	60	278	0	79	2								-2.778498	1	1	120858	2	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO1	6091	broad.mit.edu	37	3	78676482	78676482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78676482C>A	ENST00000464233.1	-	26	3977	c.3864G>T	c.(3862-3864)caG>caT	p.Q1288H	ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000436010.2_Missense_Mutation_p.Q1249H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)			44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)			TCCTGTCGGGCTGGTGCTGCA	0.488000																								0							SO:0001583	missense			ENST00000464233.1	1	1	hg19	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	3.600	-0.081801	0.07141	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.61392	0.13;0.11;0.11;0.13	5.08	-8.7	0.00851	.	0.407517	0.29383	N	0.012309	T	0.33177	0.0854	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.13407	0.0;0.0;0.0;0.0;0.009	T	0.17228	-1.0376	9	.	.	.	.	12.3366	0.55071	0.0979:0.5823:0.0:0.3199	.	1252;1288;1243;1188;1249	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1249;1243;1288;1243;1188;1292	ENSP00000406043:Q1249H;ENSP00000420321:Q1288H;ENSP00000420637:Q1243H;ENSP00000417992:Q1188H	.	Q	-	3	2	ROBO1	78759172	0.000000	0.05858	0.012000	0.15200	0.161000	0.22273	-2.170000	0.01268	-1.238000	0.02535	-0.340000	0.08031	CAG		TCGA-IB-7651-01A-11D-2154-08	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1	12	86	0	23	0	9.727242e-01	0	47	0	23	2		0	0	0	0	0	2	1	9.991756e-01	12	83	0	23	2								-19.502840	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.987476	0.990000	1	9.900000e-01	1
ROBO1	6091	broad.mit.edu	37	3	78680428	78680428	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78680428C>A	ENST00000464233.1	-	25	3622	c.3509G>T	c.(3508-3510)aGa>aTa	p.R1170I	ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1131I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)			44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)			CTTGGGTGTTCTTGCCCCTTT	0.468000																								0							SO:0001583	missense			ENST00000464233.1	1	1	hg19	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998365|4.998365	0.93227|0.93227	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.90410	.|0.6998	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;B;D;P;B	.|0.69078	.|0.997;0.294;0.973;0.883;0.264	.|D;B;P;B;B	.|0.80764	.|0.994;0.171;0.713;0.272;0.196	.|D	.|0.88927	.|0.3370	.|9	.|.	.|.	.|.	.|.	19.484|19.484	0.95022|0.95022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;1170;1125;1070;1131	.|Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.|.;ROBO1_HUMAN;.;.;.	X|I	97|1131;1125;1170;1125;1070;1174	.|ENSP00000406043:R1131I;ENSP00000420321:R1170I;ENSP00000420637:R1125I;ENSP00000417992:R1070I	.|.	E|R	-|-	1|2	0|0	ROBO1|ROBO1	78763118|78763118	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.932000|0.932000	0.56968|0.56968	7.445000|7.445000	0.80570|0.80570	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GAA|AGA		TCGA-IB-7651-01A-11D-2154-08	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1	20	115	0	25	0	9.826068e-01	0	41	0	25	2		0	0	0	0	0	2	1	9.999959e-01	20	110	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999355	0.990000	1	9.900000e-01	1
ROBO1	6091	broad.mit.edu	37	3	78701024	78701024	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78701024A>C	ENST00000464233.1	-	19	2783	c.2670T>G	c.(2668-2670)atT>atG	p.I890M	ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M|ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000436010.2_Missense_Mutation_p.I851M	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)			44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)			CCACATCTGAAATCTGCTGAG	0.498000																								0							SO:0001583	missense			ENST00000464233.1	1	1	hg19	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965960	0.34659	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63255	-0.0;-0.03;-0.01;0.08	5.98	-3.3	0.05003	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	L	0.56769	1.78	0.44221	D	0.997057	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.993	D;D;D;D;D	0.85130	0.994;0.974;0.997;0.95;0.963	T	0.66384	-0.5937	9	.	.	.	.	12.2667	0.54683	0.2272:0.0:0.6642:0.1086	.	854;890;854;854;851	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	M	851;854;890;854;854;894	ENSP00000406043:I851M;ENSP00000420321:I890M;ENSP00000420637:I854M;ENSP00000417992:I854M	.	I	-	3	3	ROBO1	78783714	1.000000	0.71417	0.561000	0.28357	0.019000	0.09904	0.902000	0.28459	-0.923000	0.03785	-1.054000	0.02325	ATT		TCGA-IB-7651-01A-11D-2154-08	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1	117	507	0	143	0	9.998479e-01	0	57	0	143	2		0	0	0	0	0	2	1	1	116	498	0	141	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROBO1	6091	broad.mit.edu	37	3	78711157	78711157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78711157C>T	ENST00000464233.1	-	15	2187	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000436010.2_Missense_Mutation_p.E653K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)			44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)			CAGTGCACTTCGATGGAAGAG	0.463000																								0							SO:0001583	missense			ENST00000464233.1	1	1	hg19	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417834	0.42918	0.0	3.62E-4	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.136555	0.64402	D	0.000003	T	0.41880	0.1178	N	0.19112	0.55	0.40617	D	0.98172	B;B;B;P;B;B	0.45212	0.221;0.066;0.422;0.853;0.066;0.053	B;B;B;B;B;B	0.41271	0.039;0.032;0.19;0.352;0.032;0.031	T	0.30031	-0.9992	9	.	.	.	.	19.2213	0.93797	0.0:1.0:0.0:0.0	.	656;656;692;656;656;653	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	K	653;656;692;656;656;696	ENSP00000406043:E653K;ENSP00000420321:E692K;ENSP00000420637:E656K;ENSP00000417992:E656K	.	E	-	1	0	ROBO1	78793847	0.983000	0.35010	0.983000	0.44433	0.985000	0.73830	2.454000	0.44979	2.516000	0.84829	0.555000	0.69702	GAA		TCGA-IB-7651-01A-11D-2154-08	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1	14	52	0	13	0	9.960382e-01	0	39	0	13	2		0	0	0	0	0	2	1	9.998502e-01	14	51	0	13	2								-3.511522	1	1	120822	16	41	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999789	0.990000	1	9.900000e-01	1
ROBO1	6091	broad.mit.edu	37	3	78719257	78719257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78719257G>A	ENST00000464233.1	-	11	1650	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R474*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)			44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)			TTAGCATATCGGATCTGCAGT	0.443000																								0							SO:0001587	stop_gained			ENST00000464233.1	0	1	hg19	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	37	6.388750	0.97529	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	.	.	.	5.78	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0177	0.71600	0.0:0.0:0.7413:0.2587	.	.	.	.	X	474;477;513;477;477;513;46	.	.	R	-	1	2	ROBO1	78801947	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	3.100000	0.50275	1.405000	0.46838	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	1	10	89	0	34	0	9.195658e-01	0	42	0	34	2		0	0	0	0	0	2	1	9.972326e-01	10	88	0	34	2								-2.809485	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.630000	1.000000	1.000000	0.956282	0.990000	1	8.900000e-01	1
GBE1	2632	broad.mit.edu	37	3	81627222	81627222	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81627222G>A	ENST00000429644.2	-	12	2115	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1			18		Lung NSC(201;0.0117)			CAACCAAAATGCCAGCGACTT	0.358000									Glycogen Storage Disease, type IV															0							SO:0001583	missense	Familial Cancer Database	Andersen Disease, Brancher deficiency	ENST00000429644.2	1	1	hg19	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539408	0.85917	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.85484	-1.99;-1.99	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.101196	0.64402	D	0.000002	D	0.94879	0.8345	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67382	0.811;0.951	D	0.95854	0.8877	10	0.87932	D	0	-12.9944	19.7771	0.96399	0.0:0.0:1.0:0.0	.	450;491	E9PGM4;Q04446	.;GLGB_HUMAN	V	491;542;450;254	ENSP00000410833:A491V;ENSP00000419638:A450V	ENSP00000264326:A542V	A	-	2	0	GBE1	81709912	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.455000	0.97625	2.676000	0.91093	0.585000	0.79938	GCA		TCGA-IB-7651-01A-11D-2154-08	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2	1	0	1	15	56	0	20	1	9.999991e-01	20	95	0	20	2		0	0	0	0	0	2	1	9.999160e-01	15	54	0	20	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999856	0.990000	1	9.900000e-01	1
GBE1	2632	broad.mit.edu	37	3	81699009	81699009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81699009C>T	ENST00000429644.2	-	4	1136	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1			18		Lung NSC(201;0.0117)			CCTTCACGAACCACATACTTT	0.338000									Glycogen Storage Disease, type IV															0							SO:0001583	missense	Familial Cancer Database	Andersen Disease, Brancher deficiency	ENST00000429644.2	1	1	hg19	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056943	0.36277	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.19250	2.16;2.16	5.83	-2.4	0.06583	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.140370	0.06154	N	0.674717	T	0.16811	0.0404	L	0.31157	0.91	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38415	-0.9662	10	0.52906	T	0.07	-0.2979	12.0024	0.53240	0.0:0.4188:0.0:0.5812	.	124;165	E9PGM4;Q04446	.;GLGB_HUMAN	I	165;216;124	ENSP00000410833:V165I;ENSP00000419638:V124I	ENSP00000264326:V216I	V	-	1	0	GBE1	81781699	0.028000	0.19301	0.800000	0.32199	0.881000	0.50899	-0.013000	0.12678	-0.503000	0.06586	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2	1	0	1	32	153	0	40	1	9.999987e-01	20	88	0	40	2		0	0	0	0	0	2	1	1	31	150	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
GBE1	2632	broad.mit.edu	37	3	81810581	81810581	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810581T>C	ENST00000429644.2	-	1	731	c.88A>G	c.(88-90)Aga>Gga	p.R30G	RP11-142L1.1_ENST00000497946.1_lincRNA	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1			18		Lung NSC(201;0.0117)			TCCAGGAGTCTGGCCAGTTCG	0.677000									Glycogen Storage Disease, type IV															0							SO:0001583	missense	Familial Cancer Database	Andersen Disease, Brancher deficiency	ENST00000429644.2	1	1	hg19	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	T	7.770	0.707351	0.15239	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.16897	2.31	3.75	1.78	0.24846	.	0.582540	0.16218	U	0.224159	T	0.06917	0.0176	N	0.11064	0.09	0.21445	N	0.999682	B	0.11235	0.004	B	0.15484	0.013	T	0.41680	-0.9495	10	0.02654	T	1	-7.4281	8.5349	0.33357	0.0:0.0:0.5115:0.4885	.	30	Q04446	GLGB_HUMAN	G	30;81	ENSP00000410833:R30G	ENSP00000264326:R81G	R	-	1	2	GBE1	81893271	0.004000	0.15560	0.010000	0.14722	0.719000	0.41307	0.293000	0.19029	0.284000	0.22305	0.379000	0.24179	AGA		TCGA-IB-7651-01A-11D-2154-08	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2	1	0	1	60	270	0	49	1	9.999818e-01	7	68	0	49	2		0	0	0	0	0	2	1	1	60	265	0	49	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBE1	2632	broad.mit.edu	37	3	81810601	81810601	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810601G>A	ENST00000429644.2	-	1	711	c.68C>T	c.(67-69)gCt>gTt	p.A23V	RP11-142L1.1_ENST00000497946.1_lincRNA	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1			18		Lung NSC(201;0.0117)			GGGCACGTCAGCCAGGGCGGC	0.682000									Glycogen Storage Disease, type IV															0							SO:0001583	missense	Familial Cancer Database	Andersen Disease, Brancher deficiency	ENST00000429644.2	1	1	hg19	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278638	0.23307	.	.	ENSG00000114480	ENST00000429644;ENST00000264326	T	0.17370	2.28	3.42	3.42	0.39159	.	0.197648	0.34002	U	0.004349	T	0.13457	0.0326	L	0.40543	1.245	0.43919	D	0.996564	B	0.02656	0.0	B	0.04013	0.001	T	0.06679	-1.0813	10	0.27785	T	0.31	-2.5332	10.5247	0.44941	0.0:0.0:1.0:0.0	.	23	Q04446	GLGB_HUMAN	V	23;74	ENSP00000410833:A23V	ENSP00000264326:A74V	A	-	2	0	GBE1	81893291	0.069000	0.21087	0.179000	0.23059	0.093000	0.18481	1.010000	0.29898	1.906000	0.55180	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2	1	0	0	52	219	0	36	1	9.999405e-01	10	54	0	36	2		0	0	0	0	0	2	1	1	53	215	0	36	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1			16					AATATAAGAGCGAGGCCCTCG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000157600.3	1	1	hg19	CCDS33688.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	1	0	1	133	591	0	120	1	1	6	218	0	120	2		0	0	0	0	0	2	1	1	132	583	0	119	2								-3.385550	1	1	121412	3	38	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CADM2	253559	broad.mit.edu	37	3	85961642	85961642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:85961642G>A	ENST00000407528.2	+	5	684	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	CADM2_ENST00000405615.2_Missense_Mutation_p.E210K|CADM2_ENST00000383699.3_Missense_Mutation_p.E217K	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2			38		Lung NSC(201;0.0148)			AGTAGATCACGAATCCCTCAA	0.502000																								0							SO:0001583	missense			ENST00000407528.2	1	1	hg19	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156200	0.94686	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76709	-1.04;-1.04;-1.04	5.5	5.5	0.81552	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048239	0.85682	D	0.000000	T	0.77718	0.4172	L	0.27053	0.805	0.58432	D	0.999991	P;D;D	0.64830	0.882;0.979;0.994	B;P;P	0.56163	0.091;0.558;0.793	T	0.73142	-0.4076	10	0.18710	T	0.47	.	19.3937	0.94596	0.0:0.0:1.0:0.0	.	210;217;208	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	K	217;208;210	ENSP00000373200:E217K;ENSP00000384575:E208K;ENSP00000384193:E210K	ENSP00000373200:E217K	E	+	1	0	CADM2	86044332	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	9.261000	0.95576	2.583000	0.87209	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	1	0	1	46	220	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	1	44	216	0	52	2								-19.999990	1	1	121412	1	27	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CADM2	253559	broad.mit.edu	37	3	86010637	86010637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:86010637G>A	ENST00000407528.2	+	7	845	c.783G>A	c.(781-783)tgG>tgA	p.W261*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*|CADM2_ENST00000383699.3_Nonsense_Mutation_p.W270*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2			38		Lung NSC(201;0.0148)			CTGTTTTGTGGACAAAGGATG	0.348000																								0							SO:0001587	stop_gained			ENST00000407528.2	0	1	hg19	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.101767	0.97286	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	.	.	.	X	270;261;263	.	ENSP00000373200:W270X	W	+	3	0	CADM2	86093327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.629000	0.89072	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	1	0	1	119	540	0	135	0	0	0	1	0	135	2		0	0	0	0	0	2	1	1	117	536	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VGLL3	389136	broad.mit.edu	37	3	87017995	87017995	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87017995G>A	ENST00000398399.2	-	3	1045	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	NM_016206.2	NP_057290.2			vestigial-like family member 3	p.R228W(1)		19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)			TGGTGGTGCCGCATGTACACG	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000398399.2	1	1	hg19	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802435|3.802435	0.70682|0.70682	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.46451	.|0.87;0.88	5.81|5.81	4.89|4.89	0.63831|0.63831	.|.	.|0.396637	.|0.23523	.|N	.|0.047269	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.22421|0.22421	0.69|0.69	0.26973|0.26973	N|N	0.965531|0.965531	.|P	.|0.51653	.|0.947	.|B	.|0.41299	.|0.353	T|T	0.15464|0.15464	-1.0436|-1.0436	5|10	.|0.62326	.|D	.|0.03	-10.5859|-10.5859	8.5415|8.5415	0.33395|0.33395	0.0749:0.0:0.7388:0.1863|0.0749:0.0:0.7388:0.1863	.|.	.|228	.|A8MV65	.|VGLL3_HUMAN	V|W	161|228	.|ENSP00000381436:R228W;ENSP00000373199:R228W	.|ENSP00000373199:R228W	A|R	-|-	2|1	0|2	VGLL3|VGLL3	87100685|87100685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.617000|2.617000	0.46385|0.46385	1.291000|1.291000	0.44653|0.44653	0.511000|0.511000	0.50034|0.50034	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	1	0	1	70	337	0	87	0	7.880391e-01	0	16	0	87	2		0	0	0	0	0	2	1	1	66	326	0	86	2								-2.958430	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VGLL3	389136	broad.mit.edu	37	3	87027680	87027680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87027680C>T	ENST00000398399.2	-	2	762	c.399G>A	c.(397-399)tgG>tgA	p.W133*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	NM_016206.2	NP_057290.2			vestigial-like family member 3			19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)			TCTTACCTCGCCATAGGGGGG	0.507000																								0							SO:0001587	stop_gained			ENST00000398399.2	0	1	hg19	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.252520|4.252520	0.80135|0.80135	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.52306|.	0.1726|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43393|.	-0.9394|.	3|.	.|0.07175	.|T	.|0.84	-3.2935|-3.2935	18.901|18.901	0.92443|0.92443	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	67|133	.|.	.|ENSP00000373199:W133X	A|W	-|-	1|3	0|0	VGLL3|VGLL3	87110370|87110370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	5.766000|5.766000	0.68843|0.68843	2.463000|2.463000	0.83235|0.83235	0.561000|0.561000	0.74099|0.74099	GCG|TGG		TCGA-IB-7651-01A-11D-2154-08	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	1	0	1	74	432	0	112	0	5.894264e-01	0	13	0	112	2		0	0	0	0	0	2	1	1	72	417	0	112	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHMP2B	25978	broad.mit.edu	37	3	87294981	87294981	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87294981G>T	ENST00000263780.4	+	3	482	c.244G>T	c.(244-246)Gtt>Ttt	p.V82F	CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B			12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)			AAGTTCAAAAGTTACTTCTAT	0.368000																								0							SO:0001583	missense			ENST00000263780.4	1	1	hg19	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906911	0.92107	.	.	ENSG00000083937	ENST00000471660;ENST00000263780	T;T	0.73363	-0.74;-0.74	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.71581	2.175	0.80722	D	1	D;D	0.58970	0.984;0.984	P;D	0.63877	0.903;0.919	D	0.86798	0.1990	10	0.72032	D	0.01	-5.8634	18.3121	0.90204	0.0:0.0:1.0:0.0	.	41;82	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	F	41;82	ENSP00000419998:V41F;ENSP00000263780:V82F	ENSP00000263780:V82F	V	+	1	0	CHMP2B	87377671	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.471000	0.97696	2.297000	0.77311	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	1	0	1	48	211	0	70	1	1	115	274	0	70	2		0	0	0	0	0	2	1	1	46	205	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OXTR	5021	broad.mit.edu	37	3	8794867	8794867	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8794867G>T	ENST00000316793.3	-	4	1590	c.966C>A	c.(964-966)agC>agA	p.S322R	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor			13				Carbetocin(DB01282)|Oxytocin(DB00107)	GGTTGCAGCAGCTGTTGAGGC	0.592000																								0							SO:0001583	missense			ENST00000316793.3	1	1	hg19	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168596	0.94768	.	.	ENSG00000180914	ENST00000316793	T	0.79653	-1.29	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.078859	0.85682	D	0.000000	D	0.93321	0.7871	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95265	0.8372	10	0.87932	D	0	-42.436	17.3169	0.87227	0.0:0.0:1.0:0.0	.	322	P30559	OXYR_HUMAN	R	322	ENSP00000324270:S322R	ENSP00000324270:S322R	S	-	3	2	OXTR	8769867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.696000	0.84270	2.655000	0.90218	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2	1	0	1	21	328	0	61	1	7.913136e-01	17	31	0	61	2		0	0	0	0	0	2	1	9.999968e-01	21	315	0	61	2								-19.999940	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.720000	0.460000	1.000000	1.000000	0.743241	0.720000	0	5.800000e-01	9.200000e-01
HTR1F	3355	broad.mit.edu	37	3	88040023	88040023	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040023T>C	ENST00000319595.4	+	1	178	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled			25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AACTATCAACTCCCTTGTGAT	0.453000																								0							SO:0001583	missense			ENST00000319595.4	1	1	hg19	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517643	0.64634	.	.	ENSG00000179097	ENST00000319595	T	0.39056	1.1	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.053859	0.85682	D	0.000000	T	0.55832	0.1945	M	0.80982	2.52	0.39807	D	0.972652	D	0.54397	0.966	P	0.50231	0.635	T	0.65401	-0.6177	10	0.66056	D	0.02	.	13.5477	0.61713	0.0:0.0:0.0:1.0	.	42	P30939	5HT1F_HUMAN	P	42	ENSP00000322924:S42P	ENSP00000322924:S42P	S	+	1	0	HTR1F	88122713	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.145000	0.71769	2.100000	0.63781	0.477000	0.44152	TCC		TCGA-IB-7651-01A-11D-2154-08	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	1	0	1	78	668	0	135	0	0	0	1	0	135	2		0	0	0	0	0	2	1	1	78	660	0	132	2								-19.999880	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998868	0.990000	1	9.900000e-01	1
HTR1F	3355	broad.mit.edu	37	3	88040770	88040770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040770G>T	ENST00000319595.4	+	1	925	c.871G>T	c.(871-873)Gca>Tca	p.A291S		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled			25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AGAACGGAAAGCAGCCACTAC	0.368000																								0							SO:0001583	missense			ENST00000319595.4	1	0	hg19	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298939	0.81025	.	.	ENSG00000179097	ENST00000319595	T	0.39787	1.06	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	H	0.94345	3.525	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.82034	-0.0657	10	0.72032	D	0.01	.	16.7988	0.85609	0.0:0.0:1.0:0.0	.	291	P30939	5HT1F_HUMAN	S	291	ENSP00000322924:A291S	ENSP00000322924:A291S	A	+	1	0	HTR1F	88123460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.823000	0.99369	2.577000	0.86979	0.557000	0.71058	GCA		TCGA-IB-7651-01A-11D-2154-08	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	1	0	1	35	197	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	1	34	194	0	47	2								-0.851395	0	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
ZNF654	55279	broad.mit.edu	37	3	88188660	88188660	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88188660C>T	ENST00000309495.5	+	1	407	c.200C>T	c.(199-201)aCt>aTt	p.T67I	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654			12		Lung NSC(201;0.0283)			CAGGAAGTCACTGCTTTGGAA	0.373000																								0							SO:0001583	missense			ENST00000309495.5	1	1	hg19	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173623	0.01646	.	.	ENSG00000175105	ENST00000309495	T	0.10192	2.9	5.43	3.61	0.41365	.	0.482456	0.19907	N	0.103373	T	0.05914	0.0154	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.35671	T	0.21	.	10.8603	0.46823	0.0:0.8662:0.0:0.1338	.	67	Q8IZM8	ZN654_HUMAN	I	67	ENSP00000312141:T67I	ENSP00000312141:T67I	T	+	2	0	ZNF654	88271350	0.002000	0.14202	0.404000	0.26397	0.406000	0.30931	1.473000	0.35387	0.655000	0.30866	0.549000	0.68633	ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	1	0	1	53	206	0	45	1	9.769669e-01	4	22	0	45	2		0	0	0	0	0	2	1	1	53	203	0	44	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf38	285237	broad.mit.edu	37	3	88205397	88205397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205397G>A	ENST00000318887.3	+	3	912	c.602G>A	c.(601-603)cGt>cAt	p.R201H	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38			12		Lung NSC(201;0.17)			GTGAGCCTTCGTTTGCTGTCA	0.423000																								0							SO:0001583	missense			ENST00000318887.3	1	1	hg19	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342840	0.61073	2.27E-4	1.16E-4	ENSG00000179021	ENST00000318887	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.55743	1.74	0.80722	D	1	B	0.34349	0.45	B	0.28465	0.09	T	0.63712	-0.6575	9	0.87932	D	0	-15.7301	18.7992	0.92008	0.0:0.0:1.0:0.0	.	201	Q5JPI3	CC038_HUMAN	H	201	.	ENSP00000322469:R201H	R	+	2	0	C3orf38	88288087	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.873000	0.92357	2.751000	0.94390	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	1	0	1	120	508	0	119	1	9.999983e-01	17	63	0	119	2		0	0	0	0	0	2	1	1	116	499	0	118	2								-20.000000	1	1	121412	6	42	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C3orf38	285237	broad.mit.edu	37	3	88205716	88205716	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205716A>G	ENST00000318887.3	+	3	1231	c.921A>G	c.(919-921)gtA>gtG	p.V307V	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38			12		Lung NSC(201;0.17)			TAATCACTGTATGTGGTACCA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000318887.3	1	1	hg19	CCDS2921.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	1	0	1	35	299	0	88	1	9.960511e-01	14	61	0	88	2		0	0	0	0	0	2	1	1	34	296	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.890000	1.000000	1.000000	0.993091	0.990000	1	9.900000e-01	1
SRGAP3	9901	broad.mit.edu	37	3	9032472	9032472	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9032472G>A	ENST00000383836.3	-	21	3037	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	SRGAP3_ENST00000360413.3_Silent_p.G846G	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3		SRGAP3/RAF1(6)	54					TGTGTGTGTCGCCCCCGCTTC	0.701000			T	RAF1	pilocytic astrocytoma										Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0							SO:0001819	synonymous_variant			ENST00000383836.3	1	1	hg19	CCDS2572.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3	1	0	1	15	87	0	25	0	2.490842e-02	1	1	0	25	2		0	0	0	0	0	2	1	9.999010e-01	15	85	0	25	2								-19.999990	1	1	120704	3	26	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.997962	0.990000	1	9.900000e-01	1
SRGAP3	9901	broad.mit.edu	37	3	9055047	9055047	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9055047G>A	ENST00000383836.3	-	17	2519	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3		SRGAP3/RAF1(6)	54					TCTAGCTCCCGGGGGCTGGGG	0.473000			T	RAF1	pilocytic astrocytoma										Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0							SO:0001583	missense			ENST00000383836.3	1	1	hg19	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002577	0.74932	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.26518	1.73;2.15	5.7	3.73	0.42828	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.68353	0.942;0.957	T	0.23154	-1.0196	10	0.72032	D	0.01	.	13.3197	0.60426	0.0:0.0:0.6146:0.3854	.	674;698	O43295-2;O43295	.;SRGP2_HUMAN	W	698;674	ENSP00000373347:R698W;ENSP00000353587:R674W	ENSP00000353587:R674W	R	-	1	2	SRGAP3	9030047	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.825000	0.48096	1.384000	0.46424	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3	1	0	1	55	251	0	53	0	3.003845e-01	1	5	0	53	2		0	0	0	0	0	2	1	1	53	247	0	53	2								-2.438576	0	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRGAP3	9901	broad.mit.edu	37	3	9101937	9101937	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9101937T>C	ENST00000383836.3	-	6	1206	c.779A>G	c.(778-780)cAt>cGt	p.H260R	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3		SRGAP3/RAF1(6)	54					AGAGACATCATGGATGTAGTA	0.542000			T	RAF1	pilocytic astrocytoma										Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0							SO:0001583	missense			ENST00000383836.3	1	1	hg19	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296143	0.81025	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.13089	2.62;2.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.82323	2.585	0.80722	D	1	D;B;D;D	0.59357	0.985;0.232;0.978;0.963	P;B;P;B	0.50659	0.541;0.135;0.647;0.444	T	0.12243	-1.0555	10	0.42905	T	0.14	.	14.8468	0.70267	0.0:0.0:0.0:1.0	.	260;129;260;260	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	R	260;260;140	ENSP00000373347:H260R;ENSP00000353587:H260R	ENSP00000353587:H260R	H	-	2	0	SRGAP3	9076937	1.000000	0.71417	0.970000	0.41538	0.943000	0.58893	7.810000	0.86072	1.992000	0.58205	0.377000	0.23210	CAT		TCGA-IB-7651-01A-11D-2154-08	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3	1	0	0	22	481	0	82	0	2.838093e-02	0	6	0	82	2		0	0	0	0	0	2	1	9.999985e-01	21	471	0	81	2								-19.992290	1	1	121412	1	28	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.530000	0.330000	1.000000	0.520000	0.559936	0.530000	0	4.200000e-01	6.700000e-01
PROS1	5627	broad.mit.edu	37	3	93611924	93611924	+	Silent	SNP	G	G	A	rs141208672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93611924G>A	ENST00000394236.3	-	10	1324	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	PROS1_ENST00000407433.1_Silent_p.G205G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)			46				Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAGTATCACGCCTTCTGAAT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000394236.3	1	1	hg19	CCDS2923.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	1	0	1	46	173	0	34	1	1	44	173	0	34	2		0	0	0	0	0	2	1	1	46	170	0	33	2								-20.000000	1	1	121410	4	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROS1	5627	broad.mit.edu	37	3	93617301	93617301	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93617301C>A	ENST00000394236.3	-	8	1156	c.840G>T	c.(838-840)aaG>aaT	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)			46				Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCTCACAACTCTTCTGATCTT	0.383000																								0							SO:0001583	missense			ENST00000394236.3	1	1	hg19	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768117	0.15983	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78481	-1.18;-1.18	4.26	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.340285	0.29822	N	0.011111	T	0.57446	0.2054	N	0.17872	0.535	0.33922	D	0.641007	B	0.33694	0.421	B	0.35470	0.203	T	0.58239	-0.7671	10	0.10377	T	0.69	.	5.791	0.18361	0.0:0.6646:0.1611:0.1743	.	280	P07225	PROS_HUMAN	N	280;149	ENSP00000377783:K280N;ENSP00000385794:K149N	ENSP00000377783:K280N	K	-	3	2	PROS1	95099991	0.262000	0.24073	1.000000	0.80357	0.841000	0.47740	0.917000	0.28665	1.150000	0.42419	0.585000	0.79938	AAG		TCGA-IB-7651-01A-11D-2154-08	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	1	0	1	59	253	0	68	1	1	46	183	0	68	2		0	0	0	0	0	2	1	1	58	251	0	69	2								-3.194868	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SETD5	55209	broad.mit.edu	37	3	9486952	9486952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9486952C>T	ENST00000406341.1	+	11	1598	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	SETD5_ENST00000402466.1_Missense_Mutation_p.P372S|SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000407969.1_Missense_Mutation_p.P489S			Q9C0A6	SETD5_HUMAN	SET domain containing 5			47	Medulloblastoma(99;0.227)				ACAAGAAGTTCCAGAAAAAGT	0.468000																								0							SO:0001583	missense			ENST00000406341.1	1	1	hg19	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.184905|3.184905	0.57909|0.57909	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686	D;D;D;D;D|.	0.92647|.	-2.76;-3.08;-2.76;-2.75;-3.08|.	5.63|5.63	4.74|4.74	0.60224|0.60224	.|.	0.113194|.	0.64402|.	D|.	0.000010|.	T|T	0.70631|0.70631	0.3246|0.3246	L|L	0.59436|0.59436	1.845|1.845	0.41185|0.41185	D|D	0.986264|0.986264	B;B;B;B;B|.	0.23377|.	0.009;0.003;0.005;0.084;0.0|.	B;B;B;B;B|.	0.23419|.	0.046;0.004;0.01;0.031;0.001|.	T|T	0.70396|0.70396	-0.4883|-0.4883	10|5	0.66056|.	D|.	0.02|.	-2.1099|-2.1099	16.7691|16.7691	0.85532|0.85532	0.0:0.8709:0.129:0.0|0.0:0.8709:0.129:0.0	.|.	139;372;372;470;489|.	B3KXG4;B3KRD6;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;.;SETD5_HUMAN;.|.	S|F	470;372;470;489;372|137	ENSP00000385852:P470S;ENSP00000384429:P372S;ENSP00000383939:P470S;ENSP00000384114:P489S;ENSP00000302028:P372S|.	ENSP00000302028:P372S|.	P|S	+|+	1|2	0|0	SETD5|SETD5	9461952|9461952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	1.249000|1.249000	0.32839|0.32839	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	CCA|TCC		TCGA-IB-7651-01A-11D-2154-08	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1	22	59	0	17	1	1	30	86	0	17	2		0	0	0	0	0	2	1	9.999996e-01	22	58	0	17	2								-18.766550	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SETD5	55209	broad.mit.edu	37	3	9506325	9506325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9506325C>T	ENST00000406341.1	+	17	2883	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	SETD5_ENST00000402466.1_Missense_Mutation_p.A800V|SETD5_ENST00000402198.1_Missense_Mutation_p.A898V|SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.A917V			Q9C0A6	SETD5_HUMAN	SET domain containing 5			47	Medulloblastoma(99;0.227)				CTTACTACTGCTAGTCGCTGC	0.468000																								0							SO:0001583	missense			ENST00000406341.1	1	1	hg19	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362848	0.82353	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93133	-2.85;-3.17;-2.85;-2.84;-3.17	5.05	5.05	0.67936	.	0.253628	0.38326	N	0.001729	D	0.89853	0.6835	N	0.19112	0.55	0.46954	D	0.999267	P;P;B;P	0.46952	0.887;0.767;0.427;0.884	B;B;B;B	0.43889	0.435;0.273;0.1;0.414	D	0.91383	0.5129	10	0.66056	D	0.02	-16.0861	19.2942	0.94115	0.0:1.0:0.0:0.0	.	567;800;898;917	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	V	898;800;898;917;800	ENSP00000385852:A898V;ENSP00000384429:A800V;ENSP00000383939:A898V;ENSP00000384114:A917V;ENSP00000302028:A800V	ENSP00000302028:A800V	A	+	2	0	SETD5	9481325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.155000	0.71833	2.724000	0.93272	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1	100	498	0	134	1	1	26	100	0	134	2		0	0	0	0	0	2	1	1	99	491	0	134	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SETD5	55209	broad.mit.edu	37	3	9514972	9514972	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9514972C>A	ENST00000406341.1	+	19	3438	c.3248C>A	c.(3247-3249)gCt>gAt	p.A1083D	SETD5_ENST00000402466.1_Missense_Mutation_p.A985D|SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D|SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D			Q9C0A6	SETD5_HUMAN	SET domain containing 5			47	Medulloblastoma(99;0.227)				GAAAATTCTGCTGGTGGGGGA	0.488000																								0							SO:0001583	missense			ENST00000406341.1	1	1	hg19	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937907|1.937907	0.34189|0.34189	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.91792|.	-2.59;-2.91;-2.59;-2.59;-2.91|.	3.96|3.96	0.297|0.297	0.15762|0.15762	.|.	1.176010|.	0.06525|.	N|.	0.740437|.	T|.	0.15955|.	0.0384|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B|.	0.36535|.	0.557;0.403;0.032|.	B;B;B|.	0.30572|.	0.117;0.083;0.011|.	T|.	0.28618|.	-1.0038|.	10|.	0.72032|.	D|.	0.01|.	0.0521|0.0521	5.9021|5.9021	0.18972|0.18972	0.0:0.6:0.1671:0.2328|0.0:0.6:0.1671:0.2328	.|.	752;985;1083|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	D|X	1083;985;1083;1102;985|750;413	ENSP00000385852:A1083D;ENSP00000384429:A985D;ENSP00000383939:A1083D;ENSP00000384114:A1102D;ENSP00000302028:A985D|.	ENSP00000302028:A985D|.	A|C	+|+	2|3	0|2	SETD5|SETD5	9489972|9489972	0.793000|0.793000	0.28825|0.28825	0.898000|0.898000	0.35279|0.35279	0.997000|0.997000	0.91878|0.91878	1.464000|1.464000	0.35288|0.35288	0.152000|0.152000	0.19188|0.19188	0.650000|0.650000	0.86243|0.86243	GCT|TGC		TCGA-IB-7651-01A-11D-2154-08	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1	29	150	0	61	1	9.999982e-01	29	86	0	61	2		0	0	0	0	0	2	1	1	28	146	0	61	2								-3.272968	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
SETD5	55209	broad.mit.edu	37	3	9517250	9517250	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9517250G>T	ENST00000406341.1	+	22	3994	c.3804G>T	c.(3802-3804)caG>caT	p.Q1268H	SETD5_ENST00000402466.1_Missense_Mutation_p.Q1170H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1287H			Q9C0A6	SETD5_HUMAN	SET domain containing 5			47	Medulloblastoma(99;0.227)				ATCCTACACAGTCTCCAGGAT	0.522000																								0							SO:0001583	missense			ENST00000406341.1	0	1	hg19	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705524	0.48412	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92647	-2.74;-3.08;-2.74;-2.74;-3.08	5.57	0.0657	0.14358	.	0.000000	0.64402	D	0.000003	D	0.89298	0.6675	N	0.24115	0.695	0.27653	N	0.947312	D;D;P	0.59767	0.986;0.986;0.94	P;P;P	0.57152	0.814;0.814;0.459	D	0.84108	0.0399	10	0.59425	D	0.04	-4.3563	9.924	0.41481	0.3264:0.0:0.559:0.1146	.	937;1170;1268	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	H	1268;1170;1268;1287;1170	ENSP00000385852:Q1268H;ENSP00000384429:Q1170H;ENSP00000383939:Q1268H;ENSP00000384114:Q1287H;ENSP00000302028:Q1170H	ENSP00000302028:Q1170H	Q	+	3	2	SETD5	9492250	0.122000	0.22280	0.988000	0.46212	0.957000	0.61999	-0.783000	0.04638	-0.529000	0.06358	-0.332000	0.08345	CAG		TCGA-IB-7651-01A-11D-2154-08	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	0	0	0	36	333	1	91	1	9.325276e-01	12	92	1	91	6		0	0	0	0	0	2	1	9.992594e-01	36	328	1	91	15								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.830000	1.000000	1.000000	0.985176	0.990000	1	9.800000e-01	1
EPHA6	285220	broad.mit.edu	37	3	96706372	96706372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706372G>T	ENST00000389672.5	+	3	687	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	EPHA6_ENST00000542517.1_Nonsense_Mutation_p.E123*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.E217*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6			101					GACTTGCAAAGAAACATTTAA	0.398000																								0							SO:0001587	stop_gained			ENST00000389672.5	0	1	hg19	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.798593|4.798593	0.90538|0.90538	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	.|T	.|0.76666	.|0.4019	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74435	.|-0.3666	.|4	0.87932|.	D|.	0|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	217;217;123|161	.|.	ENSP00000374323:E217X|.	E|R	+|+	1|2	0|0	EPHA6|EPHA6	98189062|98189062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAA|AGA		TCGA-IB-7651-01A-11D-2154-08	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	0	0	0	45	563	0	123	0	0	0	1	0	123	2		0	0	0	0	0	2	1	1	45	548	0	123	2								-10.397900	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.880000	0.650000	1.000000	1.000000	0.879118	0.880000	1	7.600000e-01	1
EPHA6	285220	broad.mit.edu	37	3	96706450	96706450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706450G>A	ENST00000389672.5	+	3	765	c.727G>A	c.(727-729)Gac>Aac	p.D243N	EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N|EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6			101					TACAAAGATCGACACAATTGC	0.413000																								0							SO:0001583	missense			ENST00000389672.5	1	1	hg19	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.988862|4.988862	0.93106|0.93106	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.04917|.	3.53;3.53;3.53|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.85375|0.85375	0.5682|0.5682	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.87367|0.87367	0.2348|0.2348	10|5	0.87932|.	D|.	0|.	.|.	18.9232|18.9232	0.92534|0.92534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243;243|.	B3KS12;E7EU71|.	.;.|.	N|Q	243;243;149|187	ENSP00000420598:D243N;ENSP00000374323:D243N;ENSP00000439758:D149N|.	ENSP00000374323:D243N|.	D|R	+|+	1|2	0|0	EPHA6|EPHA6	98189140|98189140	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	1	0	1	206	897	0	222	1	3.135991e-01	4	2	0	222	2		0	0	0	0	0	2	1	1	202	890	0	218	2								-20.000000	1	0	120844	2	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR14	64419	broad.mit.edu	37	3	9726291	9726291	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726291C>T	ENST00000296003.4	+	11	1109	c.987C>T	c.(985-987)caC>caT	p.H329H	MTMR14_ENST00000351233.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H|MTMR14_ENST00000353332.5_Silent_p.H329H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14			21	Medulloblastoma(99;0.227)				TGCTGGTACACTGTATCTCAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000296003.4	1	1	hg19	CCDS43043.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	1	0	0	90	453	0	91	1	1	76	147	0	91	2		0	0	0	0	0	2	1	1	89	447	0	90	2								-20.000000	1	0	120948	1	34	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR14	64419	broad.mit.edu	37	3	9726338	9726338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726338G>A	ENST00000296003.4	+	11	1156	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H|MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14			21	Medulloblastoma(99;0.227)				TCCCTCCTGCGCCTTTCCTTG	0.587000																								0							SO:0001583	missense			ENST00000296003.4	1	1	hg19	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139862	0.94560	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.72	5.72	0.89469	.	0.046924	0.85682	D	0.000000	D	0.95900	0.8665	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;1.0;1.0	D	0.95919	0.8929	10	0.87932	D	0	-2.6883	19.8766	0.96875	0.0:0.0:1.0:0.0	.	99;345;345;345	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	H	345;99;345;345;345;117	ENSP00000323462:R345H;ENSP00000401993:R99H;ENSP00000296003:R345H;ENSP00000334070:R345H;ENSP00000388746:R117H	ENSP00000296003:R345H	R	+	2	0	MTMR14	9701338	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.114000	0.94329	2.698000	0.92095	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	1	0	1	78	355	0	71	1	1	73	153	0	71	2		0	0	0	0	0	2	1	1	77	346	0	71	2								-3.394303	1	0	120874	2	33	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPNE9	151835	broad.mit.edu	37	3	9746668	9746668	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9746668C>T	ENST00000383832.3	+	4	440	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX			16	Medulloblastoma(99;0.227)				GCAAAATCTGCGCTTCGATGT	0.602000																								0							SO:0001583	missense			ENST00000383832.3	1	1	hg19	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037375	0.93630	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.70516	-0.49;-0.49	3.7	3.7	0.42460	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.216690	0.37530	N	0.002044	D	0.87958	0.6309	H	0.96080	3.765	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.92327	0.5870	10	0.87932	D	0	.	15.7034	0.77558	0.0:1.0:0.0:0.0	.	84	Q8IYJ1	CPNE9_HUMAN	C	84	ENSP00000373343:R84C;ENSP00000373342:R84C	ENSP00000373342:R84C	R	+	1	0	CPNE9	9721668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.548000	0.82154	2.082000	0.62665	0.444000	0.29173	CGC		TCGA-IB-7651-01A-11D-2154-08	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	0	0	0	14	69	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	9.998303e-01	14	68	0	18	2								-10.842690	1	1	120792	1	27	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999036	0.990000	1	9.900000e-01	1
CRYBG3	131544	broad.mit.edu	37	3	97596325	97596325	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97596325A>C	ENST00000182096.4	+	1	507	c.443A>C	c.(442-444)gAg>gCg	p.E148A		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3			32					AGCTCACAGGAGGACATTCTA	0.428000																								0							SO:0001583	missense			ENST00000182096.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.8	4.201890	0.79127	.	.	ENSG00000080200	ENST00000182096	T	0.78924	-1.22	5.9	5.9	0.94986	.	0.093992	0.45606	D	0.000355	T	0.77438	0.4130	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	P	0.51895	0.683	T	0.80346	-0.1421	10	0.87932	D	0	.	14.8985	0.70661	1.0:0.0:0.0:0.0	.	148	Q68DQ2	CRBG3_HUMAN	A	148	ENSP00000182096:E148A	ENSP00000182096:E148A	E	+	2	0	CRYBG3	99079015	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.660000	0.68018	2.266000	0.75297	0.528000	0.53228	GAG		TCGA-IB-7651-01A-11D-2154-08	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	1	0	1	90	361	0	105	1	9.141223e-01	2	16	0	105	2		0	0	0	0	0	2	1	1	89	355	0	104	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRYBG3	131544	broad.mit.edu	37	3	97655719	97655719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97655719G>A	ENST00000182096.4	+	16	2692	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3			32					TCAGCAGATGGAAAACAATTG	0.413000																								0							SO:0001587	stop_gained			ENST00000182096.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	39	7.439729	0.98286	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	.	.	.	5.54	5.54	0.83059	.	1.814360	0.02012	N	0.047103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1055	0.93293	0.0:0.0:1.0:0.0	.	.	.	.	X	876;82;83	.	ENSP00000182096:W876X	W	+	3	0	CRYBG3	99138409	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.332000	0.72934	2.609000	0.88269	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	0	0	1	59	267	0	71	1	9.982839e-01	2	44	0	71	2		0	0	0	0	0	2	1	1	59	262	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRR3	200959	broad.mit.edu	37	3	97711701	97711701	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97711701C>A	ENST00000472788.1	-	0	1100					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)			3				Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTACCTTTCCTGTCTTCTTG	0.473000																								0											ENST00000472788.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2	0	0	0	150	687	0	201		0	0	0	0	201	2		0	0	0	0	0	2	1	1	149	674	0	201	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRR3	200959	broad.mit.edu	37	3	97720488	97720488	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97720488C>T	ENST00000472788.1	-	0	879					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)			3				Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AACAGCTCTTCGGTCAATCCA	0.403000																								0											ENST00000472788.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2	0	0	0	45	160	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	45	160	0	48	2								-3.527987	1	1	120812	12	40	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRR3	200959	broad.mit.edu	37	3	97736563	97736563	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97736563G>T	ENST00000472788.1	-	0	243					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)			3				Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGGCACTGGAGACCCTTAAGA	0.353000																								0											ENST00000472788.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2	0	0	0	4	73	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	8.922071e-01	4	73	0	18	2								-7.920937	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.680000	0.230000	1.000000	1.000000	0.688584	0.680000	0	4.100000e-01	1
OR5AC2	81050	broad.mit.edu	37	3	97806194	97806194	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97806194C>T	ENST00000358642.2	+	1	178	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	p.P60F(1)		28					TCTTCATATGCCCATGTACTT	0.433000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000358642.2	1	1	hg19	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694621	0.68386	.	.	ENSG00000196578	ENST00000358642	T	0.02015	4.5	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002513	T	0.18593	0.0446	M	0.92412	3.305	0.41357	D	0.987405	D	0.89917	1.0	D	0.97110	1.0	T	0.02333	-1.1175	10	0.72032	D	0.01	-33.5828	16.4072	0.83684	0.0:1.0:0.0:0.0	.	60	Q9NZP5	O5AC2_HUMAN	S	60	ENSP00000351466:P60S	ENSP00000351466:P60S	P	+	1	0	OR5AC2	99288884	1.000000	0.71417	0.946000	0.38457	0.237000	0.25408	5.592000	0.67543	2.470000	0.83445	0.596000	0.82720	CCC		TCGA-IB-7651-01A-11D-2154-08	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1	0	0	0	33	1073	1	201		0	0	0	1	201	2		0	0	0	0	0	2	1	9.791704e-01	33	1051	1	197	19								-2.616543	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.350000	0.240000	1.000000	0.350000	0.397201	0.350000	0	2.900000e-01	4.400000e-01
BRPF1	7862	broad.mit.edu	37	3	9783725	9783725	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9783725T>A	ENST00000457855.1	+	5	1882	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N|BRPF1_ENST00000424362.1_Missense_Mutation_p.I624N|BRPF1_ENST00000383829.2_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1			49	Medulloblastoma(99;0.227)				GTTCAGCAGATTGCCATGGAG	0.542000																								0							SO:0001583	missense			ENST00000457855.1	1	1	hg19	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407974	0.25378	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.15372	2.43;2.43;3.82;2.43;2.43	5.19	5.19	0.71726	Bromodomain (1);	0.205038	0.51477	D	0.000084	T	0.12220	0.0297	N	0.08118	0	0.39313	D	0.965114	B;B;B;B	0.24186	0.099;0.002;0.001;0.001	B;B;B;B	0.35688	0.208;0.007;0.001;0.003	T	0.29882	-0.9997	10	0.19590	T	0.45	.	15.3474	0.74350	0.0:0.0:0.0:1.0	.	624;624;624;624	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	N	624	ENSP00000402485:I624N;ENSP00000398863:I624N;ENSP00000373340:I624N;ENSP00000306297:I624N;ENSP00000410210:I624N	ENSP00000306297:I624N	I	+	2	0	BRPF1	9758725	1.000000	0.71417	0.982000	0.44146	0.659000	0.38960	5.127000	0.64727	2.074000	0.62210	0.460000	0.39030	ATT		TCGA-IB-7651-01A-11D-2154-08	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	1	0	1	40	221	0	49	1	9.950848e-01	16	32	0	49	2		0	0	0	0	0	2	1	1	39	218	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
OR5H1	26341	broad.mit.edu	37	3	97851957	97851957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97851957G>T	ENST00000354565.2	+	1	416	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1			34					ATGACCAATGGACTGTGCATC	0.393000																								0							SO:0001583	missense			ENST00000354565.2	1	1	hg19	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	0.866	-0.733512	0.03111	.	.	ENSG00000231192	ENST00000354565	T	0.37235	1.21	3.57	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.262517	0.26911	N	0.021867	T	0.24044	0.0582	L	0.33668	1.02	0.09310	N	1	B	0.23806	0.091	B	0.25759	0.063	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.4464	0.16537	0.3814:0.0:0.6186:0.0	.	139	A6NKK0	OR5H1_HUMAN	V	139	ENSP00000346575:G139V	ENSP00000346575:G139V	G	+	2	0	OR5H1	99334647	0.000000	0.05858	0.022000	0.16811	0.037000	0.13140	-0.955000	0.03869	0.197000	0.20387	0.195000	0.17529	GGA		TCGA-IB-7651-01A-11D-2154-08	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	1	0	0	94	541	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	77	499	0	163	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRPF1	7862	broad.mit.edu	37	3	9786068	9786068	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9786068T>G	ENST00000457855.1	+	8	2789	c.2778T>G	c.(2776-2778)agT>agG	p.S926R	BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R|BRPF1_ENST00000424362.1_Missense_Mutation_p.S925R|BRPF1_ENST00000383829.2_Missense_Mutation_p.S932R|BRPF1_ENST00000433861.2_Intron			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1			49	Medulloblastoma(99;0.227)				ACGGAGGCAGTCCTGTGGGGC	0.657000																								0							SO:0001583	missense			ENST00000457855.1	1	1	hg19	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314121	0.60414	.	.	ENSG00000156983	ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T	0.18174	2.23;3.62;2.23;2.23	5.85	2.14	0.27477	.	0.085141	0.85682	D	0.000000	T	0.22244	0.0536	L	0.59436	1.845	0.58432	D	0.999994	D;D;P	0.57899	0.981;0.981;0.818	P;P;B	0.54026	0.74;0.74;0.331	T	0.08166	-1.0735	10	0.19590	T	0.45	.	6.4094	0.21682	0.0:0.5401:0.0:0.4599	.	925;932;926	P55201-3;P55201-2;P55201	.;.;BRPF1_HUMAN	R	925;932;926;926	ENSP00000398863:S925R;ENSP00000373340:S932R;ENSP00000306297:S926R;ENSP00000410210:S926R	ENSP00000306297:S926R	S	+	3	2	BRPF1	9761068	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.545000	0.23268	0.460000	0.27045	0.459000	0.35465	AGT		TCGA-IB-7651-01A-11D-2154-08	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	1	0	1	42	151	0	21	1	9.999167e-01	10	45	0	21	2		0	0	0	0	0	2	1	1	38	142	0	21	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR5H14	403273	broad.mit.edu	37	3	97868310	97868310	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868310G>A	ENST00000437310.1	+	1	141	c.81G>A	c.(79-81)ctG>ctA	p.L27L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14			31					AAATACCCCTGTTCCTGGCAT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000437310.1	0	1	hg19	CCDS33798.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1	1	0	0	102	967	0	222		0	0	0	0	222	2		0	0	0	0	0	2	1	1	67	618	0	330	2								-20.000000	1	1	121404	1	32	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.930000	1.000000	1.000000	0.995595	0.990000	1	9.900000e-01	1
OR5H6	79295	broad.mit.edu	37	3	97983282	97983282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97983282C>A	ENST00000383696.2	+	1	195	c.154C>A	c.(154-156)Ctc>Atc	p.L52I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)			34					GGTAATATATCTCATCACCAT	0.403000																								0							SO:0001583	missense			ENST00000383696.2	1	1	hg19	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	8.244	0.807484	0.16467	.	.	ENSG00000230301	ENST00000383696	T	0.05199	3.48	2.19	1.28	0.21552	.	0.620544	0.13384	N	0.391886	T	0.07548	0.0190	L	0.54908	1.71	0.09310	N	1	B	0.27679	0.185	B	0.31191	0.125	T	0.30679	-0.9970	10	0.42905	T	0.14	.	6.7748	0.23615	0.0:0.8398:0.0:0.1602	.	52	Q8NGV6	OR5H6_HUMAN	I	52	ENSP00000373196:L52I	ENSP00000373196:L52I	L	+	1	0	OR5H6	99465972	0.000000	0.05858	0.010000	0.14722	0.086000	0.17979	-1.962000	0.01514	0.251000	0.21505	0.194000	0.17425	CTC		TCGA-IB-7651-01A-11D-2154-08	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2	0	0	0	143	1431	1	303		0	0	0	1	303	2		0	0	0	0	0	2	1	1	135	1388	1	303	18								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.910000	1.000000	1.000000	0.992454	0.990000	1	9.900000e-01	1
CAMK1	8536	broad.mit.edu	37	3	9807492	9807492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807492G>T	ENST00000256460.3	-	3	343	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000349503.5_Splice_Site|OGG1_ENST00000302036.7_Splice_Site|OGG1_ENST00000383826.5_Splice_Site|OGG1_ENST00000449570.2_Splice_Site	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I			12	Medulloblastoma(99;0.227)				TTGCCCTCCAGGGCCTCCTTG	0.597000																								0							SO:0001583	missense			ENST00000256460.3	0	1	hg19	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.492059|3.492059	0.64074|0.64074	.|.	.|.	ENSG00000114026|ENSG00000134072	ENST00000302036;ENST00000349503;ENST00000302008;ENST00000383826;ENST00000352937|ENST00000256460	.|T	.|0.65549	.|-0.16	4.87|4.87	3.02|3.02	0.34903|0.34903	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.70193	.|0.3196	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.69479	.|0.964	.|T	.|0.68830	.|-0.5305	.|10	.|0.39692	.|T	.|0.17	.|-9.6405	11.8014|11.8014	0.52128|0.52128	0.1533:0.0:0.8467:0.0|0.1533:0.0:0.8467:0.0	.|.	.|56	.|Q14012	.|KCC1A_HUMAN	.|M	-1|56	.|ENSP00000256460:L56M	.|ENSP00000256460:L56M	.|L	+|-	.|1	.|2	OGG1|CAMK1	9782492|9782492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.123000|3.123000	0.50453|0.50453	1.170000|1.170000	0.42753|0.42753	0.455000|0.455000	0.32223|0.32223	.|CTG		TCGA-IB-7651-01A-11D-2154-08	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	1	0	0	36	295	0	60	0	9.971415e-01	1	75	0	60	2		0	0	0	0	0	2	1	1	33	288	0	60	2								-3.075758	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.920000	1.000000	1.000000	0.995896	0.990000	1	9.900000e-01	1
OR5K1	26339	broad.mit.edu	37	3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1			30					ACACACCGTCGGCTTCACACA	0.453000																								0							SO:0001583	missense			ENST00000332650.5	1	1	hg19	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149967	0.21371	2.27E-4	0.0	ENSG00000232382	ENST00000332650	T	0.00583	6.41	5.18	-7.99	0.01131	GPCR, rhodopsin-like superfamily (1);	1.333180	0.05325	N	0.527211	T	0.00384	0.0012	N	0.25031	0.7	0.09310	N	1	B	0.25850	0.136	B	0.14023	0.01	T	0.44375	-0.9332	10	0.25751	T	0.34	1.2397	4.8465	0.13516	0.5597:0.0968:0.2457:0.0978	.	54	Q8NHB7	OR5K1_HUMAN	Q	54	ENSP00000373193:R54Q	ENSP00000373193:R54Q	R	+	2	0	OR5K1	99671271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.050000	0.01404	-1.476000	0.01874	-3.439000	0.00036	CGG		TCGA-IB-7651-01A-11D-2154-08	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1	1	0	1	266	1101	0	275		0	0	0	0	275	2		0	0	0	0	0	2	1	1	262	1070	0	276	2								-20.000000	1	1	121410	23	49	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLDND1	56650	broad.mit.edu	37	3	98235513	98235513	+	Missense_Mutation	SNP	C	C	T	rs147410947	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98235513C>T	ENST00000503004.1	-	5	1631	c.752G>A	c.(751-753)cGt>cAt	p.R251H	CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000508503.1_5'Flank|CLDND1_ENST00000502288.1_Intron			Q9NY35	CLDN1_HUMAN	claudin domain containing 1			9					TCATGCCACACGATATGCCTT	0.398000																								0							SO:0001583	missense			ENST00000503004.1	1	1	hg19	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604808	0.28623	0.0	6.98E-4	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287	T;T;T;T;T;T;T;T;T	0.38077	1.52;1.46;1.52;1.52;1.52;1.52;1.52;1.16;1.52	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.58268	0.982;0.982	P;P	0.44921	0.459;0.464	T	0.08597	-1.0714	10	0.52906	T	0.07	-14.3194	13.1986	0.59754	0.0:0.9234:0.0:0.0766	.	156;251	F2Z2D9;Q9NY35	.;CLDN1_HUMAN	H	251;274;251;251;251;251;251;156;251	ENSP00000340247:R251H;ENSP00000388457:R274H;ENSP00000377734:R251H;ENSP00000421226:R251H;ENSP00000377739:R251H;ENSP00000377735:R251H;ENSP00000423590:R251H;ENSP00000424669:R156H;ENSP00000426869:R251H	ENSP00000340247:R251H	R	-	2	0	CLDND1	99718203	1.000000	0.71417	0.760000	0.31359	0.019000	0.09904	5.644000	0.67902	1.561000	0.49584	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	1	0	1	40	183	0	65	1	1	26	157	0	65	2		0	0	0	0	0	2	1	1	40	176	0	64	2								-3.697654	1	1	121412	18	44	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPOX	1371	broad.mit.edu	37	3	98307569	98307569	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98307569T>G	ENST00000264193.2	-	4	1159	c.941A>C	c.(940-942)aAa>aCa	p.K314T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase			16					TTTTTTAAATTTGGGGTAGAG	0.403000													Esophageal Squamous(75;7 1223 22300 43648 48951)											0							SO:0001583	missense			ENST00000264193.2	1	1	hg19	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121857	0.56613	.	.	ENSG00000080819	ENST00000264193	D	0.93953	-3.32	5.74	4.59	0.56863	.	0.090735	0.85682	D	0.000000	D	0.92130	0.7505	L	0.58354	1.805	0.47737	D	0.999503	P	0.36874	0.572	B	0.42361	0.385	D	0.90848	0.4729	10	0.59425	D	0.04	-16.4938	10.0387	0.42144	0.0:0.0795:0.0:0.9205	.	314	P36551	HEM6_HUMAN	T	314	ENSP00000264193:K314T	ENSP00000264193:K314T	K	-	2	0	CPOX	99790259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.919000	0.56439	1.121000	0.41925	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	0	0	0	13	351	0	85	1	8.545000e-01	3	92	0	85	2		0	0	0	0	0	2	1	9.995030e-01	13	346	0	83	2								-13.544520	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.440000	0.240000	1.000000	0.410000	0.477676	0.440000	0	3.300000e-01	5.900000e-01
DCBLD2	131566	broad.mit.edu	37	3	98518287	98518287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518287G>A	ENST00000326840.6	-	16	2619	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2			25					GTGCTCTGTGGCACCTGGTAC	0.507000																								0							SO:0001583	missense			ENST00000326840.6	1	1	hg19	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103204	0.76983	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.30182	1.54;1.54	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.57142	-0.7862	10	0.51188	T	0.08	-16.0329	18.0345	0.89296	0.0:0.0:1.0:0.0	.	767;753	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	S	753;767	ENSP00000321573:P753S;ENSP00000321646:P767S	ENSP00000321573:P753S	P	-	1	0	DCBLD2	100000977	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	8.608000	0.90895	2.865000	0.98341	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	1	0	1	201	885	0	231	1	1	7	140	0	231	2		0	0	0	0	0	2	1	1	198	869	0	228	2								-20.000000	1	0	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCBLD2	131566	broad.mit.edu	37	3	98518306	98518306	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518306G>A	ENST00000326840.6	-	16	2600	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	DCBLD2_ENST00000326857.9_Silent_p.D760D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	p.D746D(1)		25					ACACCAATTCGTCTGGGGCAG	0.502000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000326840.6	1	1	hg19	CCDS46878.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	1	0	1	191	884	1	232	1	1	7	146	1	232	5		0	0	0	0	0	2	1	1	191	868	1	227	17								-20.000000	1	0	120894	1	39	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCBLD2	131566	broad.mit.edu	37	3	98541110	98541110	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98541110A>C	ENST00000326840.6	-	6	1154	c.792T>G	c.(790-792)taT>taG	p.Y264*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2			25					AACTTTCATAATAGGGGATAC	0.393000																								0							SO:0001587	stop_gained			ENST00000326840.6	0	1	hg19	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	A	37	6.508712	0.97624	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	.	.	.	5.83	4.01	0.46588	.	0.252743	0.42294	D	0.000734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9355	7.1549	0.25632	0.2823:0.0:0.7177:0.0	.	.	.	.	X	264;218;264	.	ENSP00000321573:Y264X	Y	-	3	2	DCBLD2	100023800	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	2.362000	0.44169	0.764000	0.33197	-0.472000	0.04984	TAT		TCGA-IB-7651-01A-11D-2154-08	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	1	0	1	30	130	0	31	1	9.999988e-01	5	96	0	31	2		0	0	0	0	0	2	1	1	30	130	0	29	2								-18.902120	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DCBLD2	131566	broad.mit.edu	37	3	98568340	98568340	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98568340C>A	ENST00000326840.6	-	3	898	c.536G>T	c.(535-537)gGa>gTa	p.G179V	DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V|DCBLD2_ENST00000469648.1_5'UTR	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2			25					GGCCAAAAATCCGCGTCCAGA	0.353000																								0							SO:0001583	missense			ENST00000326840.6	1	1	hg19	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386978	0.82902	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857;ENST00000449482	T;T;T	0.35789	1.29;1.29;1.29	5.62	5.62	0.85841	CUB (5);	0.102412	0.64402	D	0.000002	T	0.78104	0.4231	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87734	0.2581	10	0.87932	D	0	-19.3988	17.1542	0.86785	0.0:1.0:0.0:0.0	.	179;179	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	V	179;133;179;73	ENSP00000321573:G179V;ENSP00000321646:G179V;ENSP00000396803:G73V	ENSP00000321573:G179V	G	-	2	0	DCBLD2	100051030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.231000	0.65327	2.648000	0.89879	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	1	0	1	56	261	0	82	1	9.999583e-01	2	70	0	82	2		0	0	0	0	0	2	1	1	55	255	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTLL3	26140	broad.mit.edu	37	3	9862345	9862345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9862345C>T	ENST00000547186.1	+	7	861	c.645C>T	c.(643-645)atC>atT	p.I215I	ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000430793.1_Silent_p.I3I|TTLL3_ENST00000455274.1_Silent_p.I3I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000383827.1_Silent_p.I3I	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3			26	Medulloblastoma(99;0.227)				ACATGGACATCGACAAGGACC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000547186.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.93	1.490530	0.26686	.	.	ENSG00000214021	ENST00000310252;ENST00000452823	.	.	.	4.87	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5914	0.39548	0.0961:0.3039:0.0:0.6	.	.	.	.	X	171;133	.	.	R	+	1	2	TTLL3	9837345	0.001000	0.12720	0.899000	0.35326	0.993000	0.82548	-2.110000	0.01334	-1.158000	0.02811	-0.254000	0.11334	CGA		TCGA-IB-7651-01A-11D-2154-08	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	98	452	0	113	1	9.634848e-01	4	23	0	113	2		0	0	0	0	0	2	1	1	98	446	1	111	17								-20.000000	1	1	121412	1	30	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTLL3	26140	broad.mit.edu	37	3	9874919	9874919	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9874919C>T	ENST00000547186.1	+	11	1902	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000430793.1_Silent_p.G350G|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000383827.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3			26	Medulloblastoma(99;0.227)				CCCAGCGAGGCTCTGGGGAAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000547186.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	48	169	0	49	0	4.854509e-01	1	6	0	49	2		0	0	0	0	0	2	1	1	48	168	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL8A1	1295	broad.mit.edu	37	3	99514881	99514881	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99514881C>T	ENST00000261037.3	+	5	2516	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	COL8A1_ENST00000273342.4_Silent_p.D712D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1			27					GGCCCGGAGACCGGGTGTTCC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000261037.3	1	1	hg19	CCDS2934.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	1	0	1	51	221	0	58	0	1	0	336	0	58	2		0	0	0	0	0	2	1	1	51	219	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FILIP1L	11259	broad.mit.edu	37	3	99567303	99567303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567303C>T	ENST00000354552.3	-	5	3687	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000331335.5_Missense_Mutation_p.A1073T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like			35					CTGGCTACAGCTTGCATGTAA	0.448000																								0							SO:0001583	missense			ENST00000354552.3	1	1	hg19	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524408	0.27299	.	.	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.24538	2.24;1.92;1.92;2.24;1.92;1.85	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000079	T	0.16171	0.0389	N	0.22421	0.69	0.39866	D	0.973442	B;B	0.31193	0.312;0.208	B;B	0.29524	0.103;0.048	T	0.10965	-1.0607	10	0.11485	T	0.65	-11.442	12.7881	0.57518	0.0:0.9256:0.0:0.0744	.	1073;1073	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	52;1073;649;833;1073;833;819;833	ENSP00000346560:A1073T;ENSP00000417774:A649T;ENSP00000419642:A833T;ENSP00000327880:A1073T;ENSP00000373192:A833T;ENSP00000419874:A833T	ENSP00000327880:A1073T	A	-	1	0	FILIP1L	101049993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.273000	0.43381	2.826000	0.97356	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	1	0	1	167	764	0	173	0	1	1	185	0	173	2		0	0	0	0	0	2	1	1	161	749	0	173	2								-20.000000	1	1	121118	1	35	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FILIP1L	11259	broad.mit.edu	37	3	99567800	99567800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567800G>A	ENST00000354552.3	-	5	3190	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T907I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like			35					ATGGTCTGGAGTAACCTTTAT	0.463000																								0							SO:0001583	missense			ENST00000354552.3	1	1	hg19	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716834	0.48622	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.40756	1.86;1.02;1.53;1.86;1.53;1.57	6.11	5.24	0.73138	.	0.000000	0.53938	D	0.000050	T	0.62502	0.2433	M	0.62723	1.935	0.43824	D	0.996392	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.66143	-0.5997	10	0.72032	D	0.01	-14.1944	15.423	0.75028	0.0661:0.0:0.9339:0.0	.	907;907	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	907;483;667;907;667;653;667	ENSP00000346560:T907I;ENSP00000417774:T483I;ENSP00000419642:T667I;ENSP00000327880:T907I;ENSP00000373192:T667I;ENSP00000419874:T667I	ENSP00000327880:T907I	T	-	2	0	FILIP1L	101050490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	1.605000	0.50152	0.609000	0.83330	ACT		TCGA-IB-7651-01A-11D-2154-08	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	1	0	1	203	888	0	198	0	1	1	184	0	198	2		0	0	0	0	0	2	1	1	199	870	0	195	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL17RC	84818	broad.mit.edu	37	3	9960032	9960032	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9960032G>A	ENST00000295981.3	+	4	725	c.507G>A	c.(505-507)gaG>gaA	p.E169E	IL17RC_ENST00000413608.1_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000498214.1_3'UTR|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000383812.4_Silent_p.E98E|IL17RC_ENST00000455057.1_Silent_p.E98E|IL17RC_ENST00000403601.3_Silent_p.E98E	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C			22					ACTGGGAAGAGCCTGAAGATG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000295981.3	1	1	hg19	CCDS2590.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	1	0	1	11	51	0	14	1	9.999789e-01	21	90	0	14	2		0	0	0	0	0	2	1	9.987373e-01	11	50	0	14	2								-9.786261	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998159	0.990000	1	9.900000e-01	1
IL17RC	84818	broad.mit.edu	37	3	9970068	9970068	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9970068G>A	ENST00000295981.3	+	11	1388	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	IL17RC_ENST00000413608.1_Silent_p.P319P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.P304P|IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000403601.3_Silent_p.P319P	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C			22					TGGACGCACCGTGCTCGCTGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000295981.3	1	1	hg19	CCDS2590.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	1	0	1	109	438	0	86	1	9.999980e-01	25	52	0	86	2		0	0	0	0	0	2	1	1	107	432	0	85	2								-3.619818	1	1	121046	30	45	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL17RC	84818	broad.mit.edu	37	3	9972601	9972601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9972601C>T	ENST00000295981.3	+	16	1792	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000498214.1_3'UTR|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C			22					GACTTGGGAGCGCTATGGGCC	0.512000																								0							SO:0001583	missense			ENST00000295981.3	1	1	hg19	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	0.679	-0.798909	0.02841	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	4.55	2.51	0.30379	.	0.247503	0.28647	N	0.014618	T	0.13286	0.0322	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.29627	0.078;0.054;0.026;0.026;0.04;0.032;0.043;0.231;0.252	B;B;B;B;B;B;B;B;B	0.21151	0.012;0.007;0.005;0.005;0.003;0.003;0.012;0.013;0.033	T	0.27191	-1.0081	10	0.13853	T	0.58	-2.586	7.2918	0.26370	0.0:0.7655:0.0:0.2345	.	439;293;422;437;454;293;439;525;454	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	V	439;525;454;293;422;454	ENSP00000373323:A439V;ENSP00000295981:A525V;ENSP00000384969:A454V;ENSP00000395315:A293V;ENSP00000407894:A422V;ENSP00000396064:A454V	ENSP00000295981:A525V	A	+	2	0	IL17RC	9947601	0.004000	0.15560	0.029000	0.17559	0.314000	0.28054	0.208000	0.17415	0.494000	0.27859	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	1	0	1	139	614	0	184	1	9.999999e-01	26	78	0	184	2		0	0	0	0	0	2	1	1	135	599	0	181	2								-20.000000	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRELD1	78987	broad.mit.edu	37	3	9982689	9982689	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982689G>A	ENST00000383811.3	+	5	1215	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T|CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1			14					AGAACGCAACGCCAGCCATCT	0.642000																								0							SO:0001583	missense			ENST00000383811.3	1	1	hg19	CCDS2593.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	12.35	1.911143	0.33721	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.62364	0.14;0.14;0.14;0.03	5.33	-1.41	0.08941	EGF-like, laminin (1);Growth factor, receptor (1);	0.494060	0.20817	N	0.085124	T	0.22126	0.0533	N	0.05124	-0.11	0.21445	N	0.999681	B;B	0.18013	0.0;0.025	B;B	0.12837	0.0;0.008	T	0.09975	-1.0650	9	.	.	.	.	4.0109	0.09623	0.3124:0.0:0.4295:0.2581	.	206;206	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	T	206	ENSP00000380355:A206T;ENSP00000373322:A206T;ENSP00000393643:A206T;ENSP00000321856:A206T	.	A	+	1	0	CRELD1	9957689	0.552000	0.26505	0.968000	0.41197	0.985000	0.73830	0.141000	0.16076	-0.034000	0.13713	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	1	0	1	82	348	0	81	1	1	27	101	0	81	2		0	0	0	0	0	2	1	1	79	339	0	79	2								-3.284215	1	1	121412	198	54	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRELD1	78987	broad.mit.edu	37	3	9982832	9982832	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982832G>T	ENST00000383811.3	+	6	1274	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D|CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1			14					CAGGACCTGAGGAATCAAACT	0.602000																								0							SO:0001583	missense			ENST00000383811.3	1	1	hg19	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109127	0.37242	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.96	3.11	0.35812	Growth factor, receptor (1);	0.192965	0.43919	D	0.000509	T	0.67353	0.2884	N	0.03608	-0.345	0.39846	D	0.97317	P;B	0.38922	0.651;0.42	B;B	0.35859	0.212;0.099	T	0.63220	-0.6686	9	.	.	.	-11.5993	8.3398	0.32237	0.0873:0.1569:0.7558:0.0	.	225;225	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	D	225	ENSP00000380355:E225D;ENSP00000373322:E225D;ENSP00000393643:E225D;ENSP00000321856:E225D	.	E	+	3	2	CRELD1	9957832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.240000	0.58701	0.637000	0.30526	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	1	0	1	63	322	0	85	1	1	28	134	0	85	2		0	0	0	0	0	2	1	1	62	317	0	85	2								-3.159611	1	1	121412	2	31	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRRT3	285368	broad.mit.edu	37	3	9988167	9988167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9988167G>A	ENST00000412055.1	-	4	2819	c.2690C>T	c.(2689-2691)gCt>gTt	p.A897V	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3			13					AGAAGCCGCAGCGGCTGCCCC	0.692000																								0							SO:0001583	missense			ENST00000412055.1	0	1	hg19	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	4.230	0.041659	0.08196	.	.	ENSG00000163704	ENST00000412055	T	0.15603	2.41	3.27	-0.221	0.13126	.	0.669651	0.12827	N	0.435914	T	0.07324	0.0185	N	0.08118	0	0.43130	D	0.994861	B	0.20671	0.047	B	0.21917	0.037	T	0.34229	-0.9837	9	.	.	.	-0.0266	7.4875	0.27441	0.0:0.5147:0.311:0.1743	.	897	Q5FWE3	PRRT3_HUMAN	V	897	ENSP00000392511:A897V	.	A	-	2	0	PRRT3	9963167	0.009000	0.17119	0.001000	0.08648	0.440000	0.31957	0.593000	0.23999	0.153000	0.19213	0.491000	0.48974	GCT		TCGA-IB-7651-01A-11D-2154-08	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	1	0	0	7	42	0	11	1	8.469990e-01	12	11	0	11	2		0	0	0	0	0	2	1	9.754361e-01	5	39	0	9	2								-14.819920	1	1	0	0		1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.750000	1.000000	1.000000	0.983418	0.990000	1	9.900000e-01	1
PRRT3	285368	broad.mit.edu	37	3	9991052	9991052	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9991052G>A	ENST00000412055.1	-	2	877	c.748C>T	c.(748-750)Cct>Tct	p.P250S	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3			13					CCAACATCAGGGGCTGCTGGA	0.597000																								0							SO:0001583	missense			ENST00000412055.1	1	1	hg19	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	0.466	-0.886714	0.02511	0.0	1.17E-4	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.21734	2.35;1.99	3.52	0.734	0.18294	.	0.471138	0.18199	N	0.148572	T	0.10380	0.0254	N	0.16656	0.425	0.09310	N	1	B;B	0.25563	0.011;0.129	B;B	0.20767	0.018;0.031	T	0.32745	-0.9895	9	.	.	.	-0.9377	8.1237	0.30986	0.3086:0.0:0.6914:0.0	.	250;250	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	S	250	ENSP00000392511:P250S;ENSP00000404512:P250S	.	P	-	1	0	PRRT3	9966052	0.739000	0.28196	0.028000	0.17463	0.001000	0.01503	0.645000	0.24782	-0.071000	0.12886	-0.813000	0.03139	CCT		TCGA-IB-7651-01A-11D-2154-08	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	1	0	1	66	308	0	74	1	8.884239e-01	9	11	0	74	2		0	0	0	0	0	2	1	1	64	301	0	74	2								-2.942735	1	1	121214	3	36	1	1	2	3	1.998468	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADH4	127	broad.mit.edu	37	4	100057801	100057801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100057801G>A	ENST00000265512.7	-	5	472	c.398C>T	c.(397-399)aCc>aTc	p.T133I	ADH4_ENST00000505590.1_Missense_Mutation_p.T152I|ADH4_ENST00000508393.1_Missense_Mutation_p.T152I|ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide			18					AAACCTGCTGGTTTTGTCTTC	0.338000																								0							SO:0001583	missense			ENST00000265512.7	1	1	hg19	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544064	0.65198	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	4.55	3.7	0.42460	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.388495	0.22795	N	0.055556	T	0.31734	0.0806	H	0.95365	3.66	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51601	-0.8685	10	0.87932	D	0	-8.474	14.6936	0.69103	0.0:0.1458:0.8542:0.0	.	152;133	P08319-2;P08319	.;ADH4_HUMAN	I	152;133;152;152;152	ENSP00000424630:T152I;ENSP00000265512:T133I;ENSP00000397939:T152I;ENSP00000425416:T152I;ENSP00000423571:T152I	ENSP00000265512:T133I	T	-	2	0	ADH4	100276824	0.999000	0.42202	0.989000	0.46669	0.900000	0.52787	2.643000	0.46604	1.135000	0.42183	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	1	0	1	63	245	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	62	243	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADH6	130	broad.mit.edu	37	4	100128629	100128629	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100128629C>T	ENST00000237653.7	-	7	1322	c.938G>A	c.(937-939)cGt>cAt	p.R313H	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'Flank|ADH6_ENST00000407820.2_Missense_Mutation_p.R104H|ADH6_ENST00000394899.2_Missense_Mutation_p.R313H|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Intron	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)			20				Abacavir(DB01048)	CTTCAAAGAACGTCCTGAGAA	0.483000																								0							SO:0001583	missense			ENST00000237653.7	1	1	hg19	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945042	0.53079	0.0	1.16E-4	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.8	2.95	0.34219	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.132384	0.48286	D	0.000186	T	0.46210	0.1381	M	0.90198	3.095	0.80722	D	1	D;P;D	0.89917	0.999;0.901;1.0	D;B;D	0.79108	0.949;0.308;0.992	T	0.53697	-0.8402	10	0.87932	D	0	-8.4352	11.3605	0.49640	0.0:0.9083:0.0:0.0917	.	190;313;313	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	H	313;104;313;249	ENSP00000378359:R313H;ENSP00000384997:R104H;ENSP00000237653:R313H;ENSP00000426187:R249H	ENSP00000237653:R313H	R	-	2	0	ADH6	100347652	0.998000	0.40836	0.403000	0.26384	0.171000	0.22731	4.432000	0.59922	0.698000	0.31739	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	1	0	1	72	391	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	68	378	0	83	2								-20.000000	1	1	121412	6	42	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADH6	130	broad.mit.edu	37	4	100140355	100140355	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100140355C>A	ENST00000237653.7	-	0	339				RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_5'Flank|ADH6_ENST00000394899.2_De_novo_Start_OutOfFrame|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_De_novo_Start_OutOfFrame	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)			20				Abacavir(DB01048)	AAGGGAGATCCTGTAGCAACT	0.418000																								0											ENST00000237653.7	0	1	hg19	CCDS3647.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	0	0	0	7	200	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	9.808154e-01	7	199	0	29	2								-3.318793	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.430000	0.190000	1.000000	0.390000	0.473652	0.430000	0	2.900000e-01	6.400000e-01
ADH1A	124	broad.mit.edu	37	4	100205930	100205930	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100205930T>C	ENST00000209668.2	-	4	403	c.290A>G	c.(289-291)cAg>cGg	p.Q97R	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide			25				Ethanol(DB00898)|Fomepizole(DB01213)	TTTTCCACACTGAGGAATAGC	0.403000																								0							SO:0001583	missense			ENST00000209668.2	1	1	hg19	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023259	0.54683	.	.	ENSG00000187758	ENST00000209668	T	0.04758	3.56	3.51	3.51	0.40186	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00670	-1.1617	10	0.87932	D	0	-18.8157	12.3143	0.54946	0.0:0.0:0.0:1.0	.	97	P07327	ADH1A_HUMAN	R	97	ENSP00000209668:Q97R	ENSP00000209668:Q97R	Q	-	2	0	ADH1A	100424953	1.000000	0.71417	0.981000	0.43875	0.348000	0.29142	5.514000	0.67043	1.354000	0.45846	0.377000	0.23210	CAG		TCGA-IB-7651-01A-11D-2154-08	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	0	0	0	10	280	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	9.968556e-01	10	277	0	61	2								-11.096500	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.430000	0.210000	1.000000	0.410000	0.469879	0.430000	0	3.100000e-01	6.000000e-01
ADH1A	124	broad.mit.edu	37	4	100208091	100208091	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100208091C>A	ENST00000209668.2	-	3	288	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide			25				Ethanol(DB00898)|Fomepizole(DB01213)	AGTGGGGTCACCATGGTACCA	0.488000																								0							SO:0001583	missense			ENST00000209668.2	1	1	hg19	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129175	0.08981	.	.	ENSG00000187758	ENST00000209668	T	0.04551	3.6	2.79	-1.21	0.09524	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.209390	0.05695	N	0.593050	T	0.02267	0.0070	N	0.02266	-0.62	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.46091	-0.9216	10	0.87932	D	0	-0.0363	5.046	0.14485	0.1436:0.5154:0.0:0.341	.	59	P07327	ADH1A_HUMAN	L	59	ENSP00000209668:V59L	ENSP00000209668:V59L	V	-	1	0	ADH1A	100427114	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-3.817000	0.00359	-0.258000	0.09446	0.460000	0.39030	GTG		TCGA-IB-7651-01A-11D-2154-08	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	1	0	1	152	596	0	170	1	1.873736e-01	2	2	0	170	2		0	0	0	0	0	2	1	1	147	585	0	169	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADH1B	125	broad.mit.edu	37	4	100231991	100231991	+	Missense_Mutation	SNP	G	G	A	rs147811380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100231991G>A	ENST00000305046.8	-	8	1101	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide			33				Ethanol(DB00898)|Fomepizole(DB01213)	GGTTATTAACGCATCCAGTGA	0.343000																								0							SO:0001583	missense			ENST00000305046.8	1	1	hg19	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207604	0.06180	4.54E-4	0.0	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.06528	3.29;3.29	3.86	2.03	0.26663	GroES-like (1);	0.489617	0.22393	N	0.060641	T	0.05960	0.0155	L	0.49513	1.565	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.34129	-0.9841	10	0.56958	D	0.05	0.8131	3.2959	0.06966	0.0879:0.1493:0.4565:0.3063	.	332;305;345	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	V	345;305;332	ENSP00000306606:A345V;ENSP00000378351:A305V	ENSP00000306606:A345V	A	-	2	0	ADH1B	100451014	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	1.077000	0.30741	0.189000	0.20188	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	1	0	1	106	430	0	151	0	8.951310e-01	0	18	0	151	2		0	0	0	0	0	2	1	1	102	422	0	150	2								-20.000000	1	1	121408	12	43	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADH1B	125	broad.mit.edu	37	4	100232703	100232703	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100232703G>A	ENST00000305046.8	-	7	1006	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ADH1B_ENST00000394887.3_Silent_p.R273R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide			33				Ethanol(DB00898)|Fomepizole(DB01213)	CCTTCCAGGTGCGTCCAGTCA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000305046.8	1	1	hg19	CCDS34033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	1	0	1	166	691	0	160	0	7.070043e-01	0	12	0	160	2		0	0	0	0	0	2	1	1	162	667	0	159	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC2A9	56606	broad.mit.edu	37	4	10027631	10027631	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10027631C>A	ENST00000506583.1	-	3	178		c.e3-1		SLC2A9_ENST00000309065.3_Splice_Site			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9			35				Losartan(DB00678)|Probenecid(DB01032)	GTTATTGTTTCTGAGAAAGAG	0.418000																								0							SO:0001630	splice_region_variant			ENST00000506583.1	1	1	hg19	CCDS3406.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2	1	0	0	55	186	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	53	184	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADH7	131	broad.mit.edu	37	4	100341725	100341725	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341725A>G	ENST00000209665.4	-	6	1066	c.826T>C	c.(826-828)Tac>Cac	p.Y276H	ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000437033.2_Missense_Mutation_p.Y264H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide			19					TCAAAGGTGTATCCCACGTTG	0.443000																								0							SO:0001583	missense			ENST00000209665.4	1	1	hg19	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112927	0.56398	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	3.5	2.25	0.28309	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.434279	0.25202	N	0.032361	T	0.30070	0.0753	M	0.72353	2.195	0.25964	N	0.982585	B	0.31193	0.312	P	0.47346	0.544	T	0.22730	-1.0208	10	0.51188	T	0.08	-26.601	8.9963	0.36055	0.9081:0.0:0.0918:0.0	.	276	P40394	ADH7_HUMAN	H	264;276;207;284	ENSP00000414254:Y264H;ENSP00000209665:Y276H;ENSP00000420613:Y207H;ENSP00000420269:Y284H	ENSP00000209665:Y276H	Y	-	1	0	ADH7	100560748	0.426000	0.25506	0.000000	0.03702	0.281000	0.26958	5.249000	0.65427	0.489000	0.27749	0.460000	0.39030	TAC		TCGA-IB-7651-01A-11D-2154-08	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	55	261	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	53	258	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADH7	131	broad.mit.edu	37	4	100341936	100341936	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341936G>T	ENST00000209665.4	-	6	855	c.615C>A	c.(613-615)tcC>tcA	p.S205S	ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000437033.2_Silent_p.S193S|ADH7_ENST00000482593.1_Silent_p.S136S	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide			19					CGACGCAAGTGGAACCAGGTT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000209665.4	1	1	hg19	CCDS34034.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	35	162	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	34	159	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ADH7	131	broad.mit.edu	37	4	100349765	100349765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349765C>T	ENST00000209665.4	-	3	419	c.179G>A	c.(178-180)cGc>cAc	p.R60H	ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000437033.2_Missense_Mutation_p.R48H|ADH7_ENST00000482593.1_5'UTR	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide			19					GTCATCTGTGCGACAGATTCC	0.413000																								0							SO:0001583	missense			ENST00000209665.4	1	1	hg19	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	C	3.540	-0.093892	0.07053	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.02682	4.2;4.2;4.2	4.02	0.0509	0.14296	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.514876	0.22398	N	0.060597	T	0.00695	0.0023	N	0.00339	-1.615	0.40885	D	0.98402	B	0.22080	0.064	B	0.17722	0.019	T	0.50499	-0.8821	10	0.02654	T	1	-0.7343	8.3891	0.32518	0.0:0.6467:0.0:0.3533	.	60	P40394	ADH7_HUMAN	H	48;60;68	ENSP00000414254:R48H;ENSP00000209665:R60H;ENSP00000420269:R68H	ENSP00000209665:R60H	R	-	2	0	ADH7	100568788	1.000000	0.71417	0.493000	0.27502	0.998000	0.95712	0.598000	0.24074	-0.246000	0.09611	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	41	584	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	40	578	0	128	2								-8.377063	1	0	121408	8	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.780000	0.560000	1.000000	1.000000	0.796434	0.780000	0	6.600000e-01	9.300000e-01
DAPP1	27071	broad.mit.edu	37	4	100761522	100761522	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100761522T>A	ENST00000512369.1	+	3	369	c.301T>A	c.(301-303)Tct>Act	p.S101T	DAPP1_ENST00000296414.7_Missense_Mutation_p.S101T	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides			6					TGAATTCTCATCTTTGAAGGA	0.333000																								0							SO:0001583	missense			ENST00000512369.1	1	1	hg19	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473587	0.43942	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.89681	-2.55;-2.55	5.55	4.32	0.51571	SH2 motif (5);	0.295543	0.34245	N	0.004132	T	0.78394	0.4276	N	0.21194	0.64	0.38763	D	0.954374	B;B;B	0.24426	0.103;0.003;0.001	B;B;B	0.23574	0.047;0.005;0.007	T	0.72265	-0.4344	10	0.15499	T	0.54	1.7998	8.2107	0.31481	0.3907:0.0:0.0:0.6093	.	101;101;101	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	T	101	ENSP00000296414:S101T;ENSP00000423602:S101T	ENSP00000296414:S101T	S	+	1	0	DAPP1	100980545	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.132000	0.50523	2.117000	0.64856	0.533000	0.62120	TCT		TCGA-IB-7651-01A-11D-2154-08	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1	1	0	1	22	97	0	30	0	5.268149e-01	0	9	0	30	2		0	0	0	0	0	2	1	9.999992e-01	21	95	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
WDR1	9948	broad.mit.edu	37	4	10080531	10080531	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10080531A>G	ENST00000499869.2	-	12	1572	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A	MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000382452.2_Missense_Mutation_p.V460A|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A			O75083	WDR1_HUMAN	WD repeat domain 1			12					CCCAATTGCCACCGTGTCCCC	0.597000																								0							SO:0001583	missense			ENST00000499869.2	1	1	hg19	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	A	7.711	0.695137	0.15039	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.54479	0.57;0.57;0.78;0.78	4.65	3.3	0.37823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.238849	0.42172	D	0.000747	T	0.37652	0.1011	L	0.33710	1.025	0.58432	D	0.999998	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.24261	-1.0165	10	0.36615	T	0.2	-18.0285	8.0394	0.30513	0.8561:0.0:0.1439:0.0	.	320;460	O75083-3;O75083	.;WDR1_HUMAN	A	460;460;320;320;295	ENSP00000427687:V460A;ENSP00000371890:V460A;ENSP00000371889:V320A;ENSP00000426725:V320A	ENSP00000371889:V320A	V	-	2	0	WDR1	9689629	0.996000	0.38824	0.986000	0.45419	0.052000	0.14988	2.015000	0.40961	1.864000	0.54056	0.379000	0.24179	GTG		TCGA-IB-7651-01A-11D-2154-08	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1	1	0	1	44	193	0	72	1	1	278	809	0	72	2		0	0	0	0	0	2	1	1	44	187	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
H2AFZ	3015	broad.mit.edu	37	4	100870520	100870520	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870520T>C	ENST00000296417.5	-	3	322	c.105A>G	c.(103-105)cgA>cgG	p.R35R	RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z			5					ATTTTAGGTGTCGATGAATAC	0.483000											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000296417.5	1	1	hg19	CCDS3654.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	1	0	1	26	189	0	65	1	1	308	995	0	65	2		0	0	0	0	0	2	1	9.999999e-01	25	186	0	63	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.997532	0.990000	1	9.900000e-01	1
H2AFZ	3015	broad.mit.edu	37	4	100870530	100870530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870530C>T	ENST00000296417.5	-	3	312	c.95G>A	c.(94-96)cGt>cAt	p.R32H	RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z			5					TCGATGAATACGGCCCACTGG	0.498000											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000296417.5	1	1	hg19	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369968	0.61624	.	.	ENSG00000164032	ENST00000296417	D	0.85258	-1.96	3.62	3.62	0.41486	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	H	0.96111	3.77	0.80722	D	1	B	0.27450	0.179	B	0.13407	0.009	D	0.90583	0.4531	10	0.62326	D	0.03	-3.3569	15.4655	0.75397	0.0:1.0:0.0:0.0	.	32	P0C0S5	H2AZ_HUMAN	H	32	ENSP00000296417:R32H	ENSP00000296417:R32H	R	-	2	0	H2AFZ	101089553	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.107000	0.64603	1.853000	0.53794	0.555000	0.69702	CGT		TCGA-IB-7651-01A-11D-2154-08	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	1	0	1	31	178	0	64	1	1	260	858	0	64	2		0	0	0	0	0	2	1	1	30	175	0	62	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999930	0.990000	1	9.900000e-01	1
H2AFZ	3015	broad.mit.edu	37	4	100870869	100870869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870869C>T	ENST00000296417.5	-	2	249	c.32G>A	c.(31-33)gGa>gAa	p.G11E	RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z			5					CTTGGCCTTTCCGGAGTCCTT	0.587000																								0							SO:0001583	missense			ENST00000296417.5	1	1	hg19	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408380	0.62399	.	.	ENSG00000164032	ENST00000296417	D	0.84730	-1.89	3.09	1.24	0.21308	Histone-fold (2);Histone H2A (1);	0.051378	0.85682	D	0.000000	D	0.83298	0.5224	M	0.83012	2.62	0.54753	D	0.999985	B	0.17038	0.02	B	0.04013	0.001	T	0.79303	-0.1859	10	0.59425	D	0.04	-3.6892	8.7116	0.34387	0.0:0.8018:0.0:0.1982	.	11	P0C0S5	H2AZ_HUMAN	E	11	ENSP00000296417:G11E	ENSP00000296417:G11E	G	-	2	0	H2AFZ	101089892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.959000	0.63666	0.507000	0.28148	0.455000	0.32223	GGA		TCGA-IB-7651-01A-11D-2154-08	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	1	0	1	107	534	0	132	1	1	288	896	0	132	2		0	0	0	0	0	2	1	1	106	523	0	131	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR1	9948	broad.mit.edu	37	4	10099401	10099401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10099401C>T	ENST00000499869.2	-	5	685	c.492G>A	c.(490-492)acG>acA	p.T164T	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_Silent_p.T164T|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1			12					CATCGCTTCCCGTGGCCAGCC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000499869.2	1	1	hg19	CCDS54740.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1	1	0	1	49	203	0	52	1	1	291	930	0	52	2		0	0	0	0	0	2	1	1	47	196	0	51	2								-2.517460	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR1	9948	broad.mit.edu	37	4	10100706	10100706	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10100706T>C	ENST00000499869.2	-	4	480	c.287A>G	c.(286-288)tAt>tGt	p.Y96C	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_Missense_Mutation_p.Y96C|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1			12					CTGGTACTCATACTTCAACAG	0.582000																								0							SO:0001583	missense			ENST00000499869.2	1	1	hg19	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892974	0.72524	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	T;T;T	0.56103	0.48;0.48;0.57	5.91	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059555	0.64402	D	0.000001	T	0.70613	0.3244	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.70821	-0.4768	10	0.39692	T	0.17	-14.3005	11.6533	0.51301	0.1329:0.0:0.0:0.8671	.	96	O75083	WDR1_HUMAN	C	96;96;100	ENSP00000427687:Y96C;ENSP00000371890:Y96C;ENSP00000425481:Y100C	ENSP00000371890:Y96C	Y	-	2	0	WDR1	9709804	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.662000	0.83803	1.017000	0.39495	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1	1	0	1	56	374	0	70	1	1	122	784	0	70	2		0	0	0	0	0	2	1	1	55	366	0	70	2								-20.000000	1	1	120942	10	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
FGFRL1	53834	broad.mit.edu	37	4	1018897	1018897	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1018897G>A	ENST00000398484.2	+	8	1857	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1			13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		GCCCGCGACCGCAGCGGAGAC	0.726000																								0							SO:0001583	missense			ENST00000398484.2	1	1	hg19	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967696	0.34754	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.26	4.26	0.50523	.	0.124081	0.53938	D	0.000042	T	0.56381	0.1981	L	0.33485	1.01	0.58432	D	0.999996	B	0.33694	0.421	B	0.28553	0.091	T	0.55095	-0.8194	10	0.13853	T	0.58	-20.067	15.7273	0.77770	0.0:0.0:1.0:0.0	.	426	Q8N441	FGRL1_HUMAN	H	426;396;426;426;426	ENSP00000381498:R426H;ENSP00000425025:R426H;ENSP00000423091:R426H;ENSP00000264748:R426H	ENSP00000264748:R426H	R	+	2	0	FGFRL1	1008897	0.214000	0.23563	0.659000	0.29680	0.023000	0.10783	1.039000	0.30266	1.943000	0.56356	0.456000	0.33151	CGC		TCGA-IB-7651-01A-11D-2154-08	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	1	0	1	24	126	0	21	1	7.795839e-01	9	8	0	21	2		0	0	0	0	0	2	1	9.999998e-01	24	125	0	20	2								-20.000000	1	1	120308	2	31	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999890	0.990000	1	9.900000e-01	1
PPP3CA	5530	broad.mit.edu	37	4	101947056	101947056	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:101947056T>C	ENST00000394854.3	-	14	2215	c.1532A>G	c.(1531-1533)gAc>gGc	p.D511G	PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme			20					GCCATTGCTGTCCGTGCCGTT	0.458000																								0							SO:0001583	missense			ENST00000394854.3	1	1	hg19	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055917	0.36277	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.47528	0.84;2.42;2.37;2.41;2.18;2.44	6.06	6.06	0.98353	.	0.055071	0.64402	D	0.000001	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P;P;B;B	0.40534	0.455;0.72;0.455;0.59;0.247;0.247	B;B;B;B;B;B	0.43536	0.114;0.423;0.163;0.228;0.125;0.163	T	0.16958	-1.0385	10	0.09843	T	0.71	-11.4256	16.6154	0.84909	0.0:0.0:0.0:1.0	.	511;279;459;501;413;444	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	G	279;511;459;501;413;444	ENSP00000422781:D279G;ENSP00000378323:D511G;ENSP00000320580:D459G;ENSP00000378322:D501G;ENSP00000422990:D413G;ENSP00000429350:D444G	ENSP00000320580:D459G	D	-	2	0	PPP3CA	102166079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.315000	0.78130	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	1	0	1	163	746	0	139	1	1	75	178	0	139	2		0	0	0	0	0	2	1	1	155	714	0	139	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP3CA	5530	broad.mit.edu	37	4	102117166	102117166	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102117166G>A	ENST00000394854.3	-	2	849	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000512215.1_Silent_p.L56L|PPP3CA_ENST00000394853.4_Silent_p.L56L	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme			20					CTCTCTTCCAGCCTTCCCTCC	0.423000																								0							SO:0001819	synonymous_variant			ENST00000394854.3	1	1	hg19	CCDS34037.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	1	0	1	70	321	0	76	1	1	34	111	0	76	2		0	0	0	0	0	2	1	1	68	315	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BANK1	55024	broad.mit.edu	37	4	102751340	102751340	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102751340T>C	ENST00000322953.4	+	2	720	c.446T>C	c.(445-447)gTa>gCa	p.V149A	BANK1_ENST00000504592.1_Missense_Mutation_p.V134A|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.V119A|BANK1_ENST00000428908.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1			44		Hepatocellular(203;0.217)			TACATCTCTGTAATCCAGAGT	0.323000																								0							SO:0001583	missense			ENST00000322953.4	1	1	hg19	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896933	0.33535	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.10005	2.92;2.92;2.92	5.32	5.32	0.75619	.	0.424012	0.20636	N	0.088481	T	0.19446	0.0467	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	T	0.06570	-1.0819	10	0.15499	T	0.54	.	14.4797	0.67573	0.0:0.0:0.0:1.0	.	149;134	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	A	134;149;119	ENSP00000421443:V134A;ENSP00000320509:V149A;ENSP00000388817:V119A	ENSP00000320509:V149A	V	+	2	0	BANK1	102970363	0.923000	0.31300	0.808000	0.32385	0.974000	0.67602	2.253000	0.43205	2.006000	0.58801	0.528000	0.53228	GTA		TCGA-IB-7651-01A-11D-2154-08	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	1	0	1	73	281	0	57	1	9.691440e-01	10	14	0	57	2		0	0	0	0	0	2	1	1	73	277	0	57	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFKB1	4790	broad.mit.edu	37	4	103534584	103534584	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103534584C>A	ENST00000505458.1	+	23	2869	c.2592C>A	c.(2590-2592)gtC>gtA	p.V864V	NFKB1_ENST00000226574.4_Silent_p.V865V|NFKB1_ENST00000600343.1_Silent_p.V684V|NFKB1_ENST00000394820.4_Silent_p.V864V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1			27		Hepatocellular(203;0.217)		Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCTCACAGGTCTCTGGGGGTA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000505458.1	1	1	hg19	CCDS54783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1	1	0	1	46	275	0	69	1	1	45	170	0	69	2		0	0	0	0	0	2	1	1	46	273	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
MANBA	4126	broad.mit.edu	37	4	103611867	103611867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103611867C>A	ENST00000226578.4	-	6	834	c.735G>T	c.(733-735)aaG>aaT	p.K245N	MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal			42		Hepatocellular(203;0.217)			CACCAACTGGCTTTGAGCTGA	0.363000																								0							SO:0001583	missense			ENST00000226578.4	1	1	hg19	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539632	0.27563	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.59224	0.28;0.28	5.02	3.14	0.36123	.	0.329652	0.33327	N	0.005035	T	0.53883	0.1824	M	0.76838	2.35	0.34998	D	0.755714	P;P	0.45902	0.868;0.543	B;B	0.39660	0.306;0.265	T	0.65319	-0.6197	10	0.27785	T	0.31	-20.7191	10.1461	0.42764	0.0:0.8213:0.0:0.1787	.	188;245	E9PFW2;O00462	.;MANBA_HUMAN	N	245;188	ENSP00000226578:K245N;ENSP00000427322:K188N	ENSP00000226578:K245N	K	-	3	2	MANBA	103830915	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	1.643000	0.37217	1.337000	0.45525	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2	1	0	1	147	667	0	152	1	1	27	90	0	152	2		0	0	0	0	0	2	1	1	146	649	0	151	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BDH2	56898	broad.mit.edu	37	4	104003289	104003289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104003289G>A	ENST00000296424.4	-	9	753	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	p.F211F(1)		10		Hepatocellular(203;0.217)			CTGCAGTTGCGAATCTTCCCG	0.463000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000296424.4	1	1	hg19	CCDS3663.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	1	0	1	38	168	0	55	1	1	50	201	0	55	2		0	0	0	0	0	2	1	1	38	167	0	54	2								-3.481098	1	1	121410	6	39	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CENPE	1062	broad.mit.edu	37	4	104041484	104041484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104041484G>A	ENST00000265148.3	-	44	7239	c.7150C>T	c.(7150-7152)Cga>Tga	p.R2384*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.R2263*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa			101					TCCAGCTCTCGAATTTTCTAT	0.328000																								0							SO:0001587	stop_gained			ENST00000265148.3	0	1	hg19	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	46	12.817774	0.99698	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.62	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	10.2376	0.43292	0.0:0.0:0.8017:0.1982	.	.	.	.	X	2384;2263	.	ENSP00000265148:R2384X	R	-	1	2	CENPE	104260933	1.000000	0.71417	0.916000	0.36221	0.067000	0.16453	1.925000	0.40074	1.011000	0.39340	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	24	123	0	31	1	6.950202e-01	3	11	0	31	2		0	0	0	0	0	2	1	9.999998e-01	24	122	0	31	2								-3.387669	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999914	0.990000	1	9.900000e-01	1
CENPE	1062	broad.mit.edu	37	4	104074400	104074400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104074400C>T	ENST00000265148.3	-	25	3130	c.3041G>A	c.(3040-3042)gGc>gAc	p.G1014D	CENPE_ENST00000380026.3_Missense_Mutation_p.G989D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa			101					TTTATCTATGCCAACCATCTA	0.289000																								0							SO:0001583	missense			ENST00000265148.3	1	1	hg19	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475696	0.04414	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.93426	-3.22;-3.22;-3.22	4.08	-8.11	0.01082	.	.	.	.	.	D	0.83797	0.5332	L	0.31294	0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.70447	-0.4869	9	0.06625	T	0.88	.	10.9198	0.47158	0.0:0.1096:0.1993:0.6911	.	989;1014	Q02224-3;Q02224	.;CENPE_HUMAN	D	1014;1014;989;1014	ENSP00000265148:G1014D;ENSP00000369365:G989D;ENSP00000423981:G1014D	ENSP00000265148:G1014D	G	-	2	0	CENPE	104293849	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-3.588000	0.00422	-2.091000	0.00858	-1.051000	0.02340	GGC		TCGA-IB-7651-01A-11D-2154-08	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	25	158	0	29	0	1.496853e-01	0	5	0	29	2		0	0	0	0	0	2	1	9.999999e-01	23	155	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999356	0.990000	1	9.900000e-01	1
ZNF518B	85460	broad.mit.edu	37	4	10445398	10445398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10445398G>A	ENST00000326756.3	-	3	2993	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B			42					GCTACAGACAGCACTCTCTTT	0.458000																								0							SO:0001583	missense			ENST00000326756.3	1	1	hg19	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829330	0.50845	.	.	ENSG00000178163	ENST00000326756	T	0.01613	4.73	6.02	3.3	0.37823	.	0.580762	0.16657	N	0.204927	T	0.01454	0.0047	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.46898	-0.9158	10	0.37606	T	0.19	-3.4808	7.1753	0.25740	0.1424:0.0:0.7213:0.1363	.	852	Q9C0D4	Z518B_HUMAN	V	852	ENSP00000317614:A852V	ENSP00000317614:A852V	A	-	2	0	ZNF518B	10054496	0.002000	0.14202	0.176000	0.23000	0.082000	0.17680	1.124000	0.31320	0.887000	0.36136	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	1	0	1	87	308	0	69	0	5.565378e-01	0	8	0	69	2		0	0	0	0	0	2	1	1	85	303	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACR3	6870	broad.mit.edu	37	4	104577398	104577398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104577398C>A	ENST00000304883.2	-	3	981	c.841G>T	c.(841-843)Gga>Tga	p.G281*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3			51		Hepatocellular(203;0.217)			CAGGTATCTCCTGGGATTTCT	0.403000																								0							SO:0001587	stop_gained			ENST00000304883.2	0	1	hg19	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817814	0.98507	.	.	ENSG00000169836	ENST00000304883	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.7975	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000303325:G281X	G	-	1	0	TACR3	104796847	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.837000	0.75354	2.745000	0.94114	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	1	0	1	98	404	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	93	397	0	83	2								-3.151169	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CXXC4	80319	broad.mit.edu	37	4	105412215	105412215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:105412215G>A	ENST00000426831.1	-	1	252	c.238C>T	c.(238-240)Cca>Tca	p.P80S	CXXC4_ENST00000394767.2_Missense_Mutation_p.P249S|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4			11					ATGACCCCTGGAGGTAATGAG	0.577000																								0							SO:0001583	missense			ENST00000426831.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.96	3.517068	0.64634	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.52	4.52	0.55395	.	0.379473	0.08080	U	1.000000	T	0.56187	0.1968	N	0.08118	0	0.54753	D	0.999983	D	0.63880	0.993	D	0.70227	0.968	T	0.56643	-0.7945	9	0.45353	T	0.12	-5.7325	15.454	0.75299	0.0:0.0:1.0:0.0	.	80	Q9H2H0	CXXC4_HUMAN	S	80	.	ENSP00000378248:P80S	P	-	1	0	CXXC4	105631664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.567000	0.90737	2.241000	0.73720	0.479000	0.44913	CCA		TCGA-IB-7651-01A-11D-2154-08	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	27	608	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	9.999999e-01	26	600	0	122	2								-2.966611	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.510000	0.340000	1.000000	0.500000	0.543312	0.510000	0	4.100000e-01	6.400000e-01
TET2	54790	broad.mit.edu	37	4	106155474	106155474	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106155474C>T	ENST00000540549.1	+	3	1235	c.375C>T	c.(373-375)ttC>ttT	p.F125F	TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F|TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000513237.1_Silent_p.F146F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000545826.1_Silent_p.F125F			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	p.F125fs*3(1)		1314		Myeloproliferative disorder(5;0.0393)			GACGTAACTTCGGGGTAAGCC	0.418000			Mis N, F		MDS										Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)						SO:0001819	synonymous_variant			ENST00000540549.1	1	1	hg19	CCDS47120.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	1	0	0	10	250	0	49	0	1.617933e-01	0	17	0	49	2		0	0	0	0	0	2	1	9.967321e-01	9	246	0	49	2								-3.362402	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.480000	0.240000	1.000000	0.440000	0.516328	0.480000	0	3.400000e-01	6.700000e-01
TET2	54790	broad.mit.edu	37	4	106156867	106156867	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106156867C>A	ENST00000540549.1	+	3	2628	c.1768C>A	c.(1768-1770)Ctt>Att	p.L590I	TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I|TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000513237.1_Missense_Mutation_p.L611I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2			1314		Myeloproliferative disorder(5;0.0393)			GCCATCAATTCTTCAGTATCA	0.463000			Mis N, F		MDS										Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0							SO:0001583	missense			ENST00000540549.1	1	1	hg19	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902755	0.33628	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.59	5.59	0.84812	.	15.888400	0.00166	N	0.000011	T	0.45094	0.1325	L	0.34521	1.04	0.33163	D	0.547245	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.946;0.946;0.982	T	0.38887	-0.9640	10	0.56958	D	0.05	.	17.7861	0.88538	0.0:1.0:0.0:0.0	.	611;590;590	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	590;590;590;611;590;590;590;590	ENSP00000306705:L590I;ENSP00000442788:L590I;ENSP00000442867:L590I;ENSP00000425443:L611I;ENSP00000369351:L590I;ENSP00000378245:L590I;ENSP00000391448:L590I	ENSP00000265149:L590I	L	+	1	0	TET2	106376316	0.996000	0.38824	0.038000	0.18304	0.044000	0.14063	3.588000	0.53964	2.631000	0.89168	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	1	0	0	34	333	0	90	1	5.981357e-01	2	19	0	90	2		0	0	0	0	0	2	1	1	32	326	0	88	2								-3.221883	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.780000	1.000000	1.000000	0.973826	0.990000	1	9.300000e-01	1
GSTCD	79807	broad.mit.edu	37	4	106640301	106640301	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640301A>G	ENST00000515279.1	+	3	731	c.511A>G	c.(511-513)Act>Gct	p.T171A	GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A|GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing			14		Hepatocellular(203;0.217)			CCAGCCCCCAACTATACCTGT	0.423000																								0							SO:0001583	missense			ENST00000515279.1	1	1	hg19	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	0.071	-1.202745	0.01581	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	-10.3	0.00346	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.899655	0.09733	N	0.762952	T	0.18923	0.0454	L	0.28504	0.86	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.002	T	0.17228	-1.0376	9	0.10111	T	0.7	-14.6755	6.6856	0.23144	0.3021:0.0757:0.4727:0.1494	.	84;171	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	A	84;84;171;171;171	.	ENSP00000353695:T171A	T	+	1	0	GSTCD	106859750	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.378000	0.02556	-1.941000	0.01042	-0.417000	0.06048	ACT		TCGA-IB-7651-01A-11D-2154-08	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	1	0	1	144	493	0	138	1	9.853179e-01	11	14	0	138	2		0	0	0	0	0	2	1	1	139	482	0	135	2								-20.000000	1	1	121410	5	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSTCD	79807	broad.mit.edu	37	4	106640462	106640462	+	Missense_Mutation	SNP	G	G	T	rs145276245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640462G>T	ENST00000515279.1	+	3	892	c.672G>T	c.(670-672)caG>caT	p.Q224H	GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H|GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing			14		Hepatocellular(203;0.217)			TCCACACACAGGAAACATCTG	0.483000																								0							SO:0001583	missense			ENST00000515279.1	1	1	hg19	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219458	0.22373	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.0	1.14	0.20703	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	1.077750	0.07016	N	0.825997	T	0.30070	0.0753	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.26573	-1.0099	9	0.42905	T	0.14	-7.8221	4.501	0.11863	0.2714:0.3228:0.4057:0.0	.	137;224	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	H	137;137;224;224;224	.	ENSP00000353695:Q224H	Q	+	3	2	GSTCD	106859911	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	0.497000	0.22514	0.250000	0.21479	0.557000	0.71058	CAG		TCGA-IB-7651-01A-11D-2154-08	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	1	0	1	67	354	0	89	1	8.834630e-01	7	15	0	89	2		0	0	0	0	0	2	1	1	67	344	0	88	2								-2.974425	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF212	285498	broad.mit.edu	37	4	1066789	1066789	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1066789T>C	ENST00000433731.2	-	10	828	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	RNF212_ENST00000382968.5_3'UTR			Q495C1	RN212_HUMAN	ring finger protein 212			10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)		TACCTCAGCATATATTGGAAG	0.527000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000433731.2	1	1	hg19	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	T	1.736	-0.492944	0.04322	.	.	ENSG00000178222	ENST00000433731	T	0.55234	0.53	1.49	-2.98	0.05513	.	.	.	.	.	T	0.28134	0.0694	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.12734	-1.0536	9	0.87932	D	0	.	6.8661	0.24094	0.0:0.3195:0.0:0.6805	.	256	Q495C1	RN212_HUMAN	C	256	ENSP00000389709:Y256C	ENSP00000389709:Y256C	Y	-	2	0	RNF212	1056789	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.213000	0.02991	-1.391000	0.02085	-1.122000	0.02009	TAT		TCGA-IB-7651-01A-11D-2154-08	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	1	0	1	48	229	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	1	47	222	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPNT	255743	broad.mit.edu	37	4	106858269	106858269	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106858269G>A	ENST00000379987.2	+	4	585	c.369G>A	c.(367-369)ccG>ccA	p.P123P	NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000427316.2_Silent_p.P153P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000453617.2_Silent_p.P140P	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin			21		Hepatocellular(203;0.217)			TGCTCATGCCGGATGGTTCCT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000379987.2	1	1	hg19	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901179	0.17760	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.05	-4.08	0.03963	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	1.5229	0.02519	0.4598:0.199:0.1508:0.1904	.	.	.	.	R	100	.	.	G	+	1	0	NPNT	107077718	0.005000	0.15991	0.965000	0.40720	0.970000	0.65996	-1.179000	0.03090	-0.777000	0.04572	-0.165000	0.13383	GGA		TCGA-IB-7651-01A-11D-2154-08	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	1	0	1	121	482	0	97	1	1	109	209	0	97	2		0	0	0	0	0	2	1	1	121	474	0	97	2								-2.788588	1	1	121412	2	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBCK	93627	broad.mit.edu	37	4	107170109	107170109	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107170109G>T	ENST00000273980.5	-	9	1136	c.689C>A	c.(688-690)gCt>gAt	p.A230D	TBCK_ENST00000394706.3_Missense_Mutation_p.A191D|TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000432496.2_Missense_Mutation_p.A230D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D					TBC1 domain containing kinase			25					ATGCTCTTCAGCCAGAACTAT	0.313000																								0							SO:0001583	missense			ENST00000273980.5	1	1	hg19	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714128	0.89112	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094859	0.64402	D	0.000001	T	0.19685	0.0473	L	0.46741	1.465	0.80722	D	1	P;P;P	0.50272	0.933;0.828;0.917	P;B;P	0.58266	0.836;0.394;0.747	T	0.00053	-1.2186	10	0.72032	D	0.01	.	14.8371	0.70192	0.0:0.1436:0.8564:0.0	.	230;191;167	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	D	230;230;167;191;230	ENSP00000273980:A230D;ENSP00000405847:A230D;ENSP00000355338:A167D;ENSP00000378196:A191D;ENSP00000378198:A230D	ENSP00000273980:A230D	A	-	2	0	TBCK	107389558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.180000	0.77674	2.547000	0.85894	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	1	0	1	33	128	0	63	1	9.998299e-01	17	39	0	63	2		0	0	0	0	0	2	1	1	32	124	0	62	2								-3.708959	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AIMP1	9255	broad.mit.edu	37	4	107249377	107249377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107249377C>T	ENST00000442366.1	+	4	420	c.368C>T	c.(367-369)gCg>gTg	p.A123V	AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V|AIMP1_ENST00000394701.4_Missense_Mutation_p.A147V	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1			11					GAAAAGAAAGCGAAAGAGAAA	0.328000																								0							SO:0001583	missense			ENST00000442366.1	1	1	hg19	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749678	0.30955	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	T;T;T;T	0.24723	1.99;1.84;1.84;1.84	5.07	-1.73	0.08081	.	1.072360	0.07135	N	0.846376	T	0.08891	0.0220	N	0.03281	-0.365	0.23056	N	0.998362	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.29397	-1.0013	10	0.35671	T	0.21	-16.5534	0.4856	0.00555	0.3365:0.2794:0.1302:0.2539	.	123;123	B4DNK3;Q12904	.;AIMP1_HUMAN	V	123;123;123;123;147	ENSP00000423681:A123V;ENSP00000405248:A123V;ENSP00000350699:A123V;ENSP00000378191:A147V	ENSP00000350699:A123V	A	+	2	0	AIMP1	107468826	0.879000	0.30193	0.880000	0.34516	0.577000	0.36160	0.166000	0.16583	0.001000	0.14605	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	1	0	1	10	135	0	32	1	9.999974e-01	77	336	0	32	2		0	0	0	0	0	2	1	9.968886e-01	10	132	0	32	2								-5.543283	1	1	121356	3	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.840000	0.430000	1.000000	1.000000	0.821047	0.840000	0	6.100000e-01	1
PAPSS1	9061	broad.mit.edu	37	4	108535481	108535481	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108535481T>G	ENST00000265174.4	-	12	2071	c.1799A>C	c.(1798-1800)aAa>aCa	p.K600T		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1			16		Hepatocellular(203;0.217)			TTCAGGTGGTTTCTGGCCTTC	0.423000																								0							SO:0001583	missense			ENST00000265174.4	1	1	hg19	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854642	0.51376	.	.	ENSG00000138801	ENST00000265174	T	0.30714	1.52	6.16	6.16	0.99307	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.041594	0.85682	D	0.000000	T	0.15696	0.0378	N	0.02368	-0.58	0.46609	D	0.999125	B	0.11235	0.004	B	0.20184	0.028	T	0.18023	-1.0350	10	0.22109	T	0.4	-24.0308	16.8061	0.85666	0.0:0.0:0.0:1.0	.	600	O43252	PAPS1_HUMAN	T	600	ENSP00000265174:K600T	ENSP00000265174:K600T	K	-	2	0	PAPSS1	108754930	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	5.642000	0.67888	2.367000	0.80283	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2	1	0	1	91	365	0	82	0	1	1	258	0	82	2		0	0	0	0	0	2	1	1	90	351	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAPSS1	9061	broad.mit.edu	37	4	108615089	108615089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108615089G>T	ENST00000265174.4	-	3	521	c.249C>A	c.(247-249)tgC>tgA	p.C83*	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1			16		Hepatocellular(203;0.217)			CCAGAGTGTAGCATGGAATAC	0.443000																								0							SO:0001587	stop_gained			ENST00000265174.4	0	1	hg19	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	G	38	6.966792	0.97967	.	.	ENSG00000138801	ENST00000265174	.	.	.	5.67	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.2707	7.7654	0.28976	0.3465:0.0:0.6535:0.0	.	.	.	.	X	83	.	ENSP00000265174:C83X	C	-	3	2	PAPSS1	108834538	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.722000	0.47269	0.633000	0.30452	0.556000	0.70494	TGC		TCGA-IB-7651-01A-11D-2154-08	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2	1	0	1	40	225	0	46	1	1	2	187	0	46	2		0	0	0	0	0	2	1	1	40	223	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
CYP2U1	113612	broad.mit.edu	37	4	108866490	108866490	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108866490G>T	ENST00000332884.6	+	2	1130	c.855G>T	c.(853-855)aaG>aaT	p.K285N	CYP2U1_ENST00000508453.1_Missense_Mutation_p.K76N|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1			10		Hepatocellular(203;0.217)			GACCATTTAAGGAATTAAGAC	0.393000																								0							SO:0001583	missense			ENST00000332884.6	1	1	hg19	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240036	0.58995	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.71103	-0.54;-0.54	5.78	3.04	0.35103	.	0.288881	0.42821	D	0.000641	T	0.57286	0.2043	L	0.41906	1.305	0.52099	D	0.999946	B	0.25719	0.132	B	0.29353	0.101	T	0.39542	-0.9609	10	0.11794	T	0.64	.	9.2284	0.37421	0.3069:0.0:0.6931:0.0	.	285	Q7Z449	CP2U1_HUMAN	N	285;242;76	ENSP00000333212:K285N;ENSP00000423667:K76N	ENSP00000333212:K285N	K	+	3	2	CYP2U1	109085939	1.000000	0.71417	0.437000	0.26809	0.997000	0.91878	1.111000	0.31159	0.319000	0.23209	0.563000	0.77884	AAG		TCGA-IB-7651-01A-11D-2154-08	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	0	0	0	13	359	0	77	0	4.120564e-01	0	38	0	77	2		0	0	0	0	0	2	1	9.995537e-01	13	359	0	75	2								-3.258438	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.430000	0.230000	1.000000	0.410000	0.468769	0.430000	0	3.200000e-01	5.800000e-01
LEF1	51176	broad.mit.edu	37	4	109010379	109010379	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109010379G>A	ENST00000265165.1	-	4	1103	c.449C>T	c.(448-450)gCg>gTg	p.A150V	LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000438313.2_Missense_Mutation_p.A150V|LEF1_ENST00000379951.2_Missense_Mutation_p.A150V|LEF1_ENST00000510624.1_Missense_Mutation_p.A82V	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1			25					AGGATGGACCGCATGGGATGG	0.493000																								0							SO:0001583	missense			ENST00000265165.1	1	1	hg19	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276371	0.59649	0.0	2.33E-4	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99150	-5.49;-5.48;-5.49;-5.47	5.87	5.03	0.67393	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	L	0.50333	1.59	0.52099	D	0.999948	P;D;B;D;P	0.76494	0.904;0.999;0.003;0.994;0.781	B;D;B;P;B	0.77004	0.231;0.989;0.001;0.847;0.183	D	0.99201	1.0873	10	0.20519	T	0.43	-1.1134	14.9854	0.71345	0.0681:0.0:0.9319:0.0	.	82;35;150;150;150	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	V	150;150;150;82;82;82	ENSP00000265165:A150V;ENSP00000369284:A150V;ENSP00000406176:A150V;ENSP00000422840:A82V	ENSP00000265165:A150V	A	-	2	0	LEF1	109229828	1.000000	0.71417	0.589000	0.28718	0.656000	0.38851	5.476000	0.66793	1.501000	0.48654	-0.229000	0.12294	GCG		TCGA-IB-7651-01A-11D-2154-08	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2	1	0	1	63	297	0	80	0	1	0	127	0	80	2		0	0	0	0	0	2	1	1	62	290	0	79	2								-3.075855	1	1	121412	5	42	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL34	6164	broad.mit.edu	37	4	109546294	109546294	+	Missense_Mutation	SNP	G	G	A	rs148986705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109546294G>A	ENST00000394668.2	+	5	346	c.280G>A	c.(280-282)Gct>Act	p.A94T	RPL34_ENST00000502534.1_Missense_Mutation_p.A94T|RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000394665.1_Missense_Mutation_p.A94T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34			4		Hepatocellular(203;0.217)			GATCAAGCGTGCTTTCCTTAT	0.323000																								0							SO:0001583	missense			ENST00000394668.2	1	1	hg19	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025344	0.93518	0.0	1.16E-4	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	H	0.94183	3.505	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.90789	0.4685	9	0.87932	D	0	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	94	P49207	RL34_HUMAN	T	94	.	ENSP00000378160:A94T	A	+	1	0	RPL34	109765743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.364000	0.97136	2.278000	0.76064	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	1	0	1	14	127	0	34	1	1	700	5012	0	34	2		0	0	0	0	0	2	1	9.997849e-01	14	125	0	34	2								-7.887259	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.690000	1.000000	1.000000	0.964684	0.990000	1	9.100000e-01	1
COL25A1	84570	broad.mit.edu	37	4	109769940	109769940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109769940C>A	ENST00000399132.1	-	27	1939	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1			49		Hepatocellular(203;0.217)			TCCTGGGATTCCTGGAGATCC	0.353000																								0							SO:0001583	missense			ENST00000399132.1	1	1	hg19	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172581	0.38315	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99186	-5.53;-5.53;-5.53	5.01	5.01	0.66863	.	0.106996	0.64402	D	0.000006	D	0.99569	0.9845	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.859;0.999	D	0.97804	1.0246	9	.	.	.	-6.4959	16.4954	0.84238	0.0:1.0:0.0:0.0	.	470;470	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	470;472;451;443;470;400	ENSP00000382083:G470V;ENSP00000382078:G443V;ENSP00000382077:G470V	.	G	-	2	0	COL25A1	109989389	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.635000	0.61332	2.494000	0.84150	0.552000	0.68991	GGA		TCGA-IB-7651-01A-11D-2154-08	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	1	0	1	112	431	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	107	420	0	96	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL25A1	84570	broad.mit.edu	37	4	109773399	109773399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109773399C>T	ENST00000399132.1	-	26	1912	c.1382G>A	c.(1381-1383)gGg>gAg	p.G461E	COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E|COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1			49		Hepatocellular(203;0.217)			AACCTTTGGCCCTTGTAGTCC	0.338000																								0							SO:0001583	missense			ENST00000399132.1	1	1	hg19	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406093	0.62288	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99353	-5.77;-5.77;-5.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.97240	3.965	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97499	1.0059	9	.	.	.	-5.6076	19.3463	0.94363	0.0:1.0:0.0:0.0	.	461;461	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	461;463;442;434;461;391	ENSP00000382083:G461E;ENSP00000382078:G434E;ENSP00000382077:G461E	.	G	-	2	0	COL25A1	109992848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.922000	0.70036	2.659000	0.90383	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	1	0	1	38	207	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	38	205	0	45	2								-3.336932	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
SEC24B	10427	broad.mit.edu	37	4	110452568	110452568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110452568C>T	ENST00000265175.5	+	20	3335	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	SEC24B_ENST00000504968.2_Missense_Mutation_p.R1124W|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B			36		Hepatocellular(203;0.217)			TACAAGCACACGGCTGGATGA	0.343000																								0							SO:0001583	missense			ENST00000265175.5	1	1	hg19	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323675	0.81580	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.90133	-2.62;-2.62;-2.62	5.48	4.63	0.57726	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.837;0.998;0.977;0.998;0.999	D	0.96419	0.9310	10	0.87932	D	0	-14.7145	14.6548	0.68825	0.0:0.9288:0.0:0.0712	.	1008;693;1124;1059;1094	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	W	1124;1059;1094	ENSP00000428564:R1124W;ENSP00000382051:R1059W;ENSP00000265175:R1094W	ENSP00000265175:R1094W	R	+	1	2	SEC24B	110672017	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.129000	0.50500	2.579000	0.87056	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2	1	0	1	67	315	0	75	1	1	41	137	0	75	2		0	0	0	0	0	2	1	1	67	308	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G12A	81579	broad.mit.edu	37	4	110639872	110639872	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110639872C>T	ENST00000243501.5	-	2	519	c.252G>A	c.(250-252)ccG>ccA	p.P84P	PLA2G12A_ENST00000502283.1_Silent_p.P84P|PLA2G12A_ENST00000502772.1_5'UTR	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA			4					CACATCCATTCGGTGGGGAGG	0.299000																								0							SO:0001819	synonymous_variant			ENST00000243501.5	1	1	hg19	CCDS3686.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254868.3	1	0	1	34	161	0	30	1	9.998385e-01	2	64	0	30	2		0	0	0	0	0	2	1	1	34	157	0	30	2								-3.173822	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CFI	3426	broad.mit.edu	37	4	110662246	110662246	+	Missense_Mutation	SNP	C	C	T	rs121964918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110662246C>T	ENST00000394634.2	-	13	1762	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	CFI_ENST00000512148.1_Missense_Mutation_p.D512N|CFI_ENST00000394635.3_Missense_Mutation_p.D527N	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I			27		Hepatocellular(203;0.217)			TTACAGGCATCGATGGAACCA	0.448000																								0		GRCh37	CM062508	CFI	M	rs121964918	SO:0001583	missense			ENST00000394634.2	1	1	hg19	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704595	0.88924	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.94687	-3.49;-3.49;-3.49	4.65	4.65	0.58169	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.116409	0.56097	D	0.000028	D	0.97458	0.9168	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.937;0.985;0.982	D	0.98173	1.0453	10	0.72032	D	0.01	-41.0888	15.9685	0.79995	0.0:1.0:0.0:0.0	.	527;512;519	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	N	527;519;512	ENSP00000378131:D527N;ENSP00000378130:D519N;ENSP00000427438:D512N	ENSP00000378130:D519N	D	-	1	0	CFI	110881695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.890000	0.75633	2.433000	0.82419	0.644000	0.83932	GAT		TCGA-IB-7651-01A-11D-2154-08	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	161	779	0	243	1	1	82	406	0	243	2		0	0	0	0	0	2	1	1	157	767	0	242	2								-3.324736	1	1	121412	2	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CFI	3426	broad.mit.edu	37	4	110667516	110667516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110667516C>T	ENST00000394634.2	-	11	1498	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	CFI_ENST00000512148.1_Missense_Mutation_p.A424T|CFI_ENST00000394635.3_Missense_Mutation_p.A439T	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I			27		Hepatocellular(203;0.217)			TCAATCAAAGCGATGTCATTT	0.408000																								0							SO:0001583	missense			ENST00000394634.2	0	1	hg19	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836600	0.71373	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.97976	-4.64;-4.64;-4.64	5.73	5.73	0.89815	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.114120	0.64402	D	0.000015	D	0.99121	0.9697	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.973;0.916;0.993	D	0.99383	1.0923	10	0.87932	D	0	-17.3083	18.1393	0.89634	0.0:1.0:0.0:0.0	.	439;424;431	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	T	439;431;424	ENSP00000378131:A439T;ENSP00000378130:A431T;ENSP00000427438:A424T	ENSP00000378130:A431T	A	-	1	0	CFI	110886965	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.689000	0.74562	2.716000	0.92895	0.558000	0.71614	GCT		TCGA-IB-7651-01A-11D-2154-08	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	0	0	10	439	0	52	1	9.993614e-01	50	546	0	52	2		0	0	0	0	0	2	1	9.967720e-01	10	434	0	52	2								-3.021679	1	1	121412	3	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.270000	0.130000	1.000000	0.260000	0.325454	0.270000	0	1.900000e-01	3.900000e-01
LRIT3	345193	broad.mit.edu	37	4	110791482	110791482	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791482A>G	ENST00000594814.1	+	4	1577	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G	LRIT3_ENST00000327908.3_Missense_Mutation_p.D343G|LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3			16					GGTGGGAAGGACCTGCTGCTG	0.478000																								0							SO:0001583	missense			ENST00000594814.1	1	1	hg19	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752055	0.69533	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.30714	1.52;1.52;1.52	5.16	5.16	0.70880	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.091310	0.85682	D	0.000000	T	0.55689	0.1936	M	0.74647	2.275	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.74674	0.937;0.984	T	0.61342	-0.7082	10	0.87932	D	0	.	15.0075	0.71524	1.0:0.0:0.0:0.0	.	481;343	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	G	343;481;343	ENSP00000328222:D343G;ENSP00000369252:D481G;ENSP00000386734:D343G	ENSP00000328222:D343G	D	+	2	0	LRIT3	111010931	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	6.948000	0.75965	1.943000	0.56356	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	1	0	1	91	441	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	88	437	0	106	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRIT3	345193	broad.mit.edu	37	4	110791701	110791701	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791701T>G	ENST00000594814.1	+	4	1796	c.1796T>G	c.(1795-1797)aTt>aGt	p.I599S	LRIT3_ENST00000327908.3_Missense_Mutation_p.I416S|LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3			16					TTACCATTGATTTGTTTCTTG	0.393000																								0							SO:0001583	missense			ENST00000594814.1	1	1	hg19	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793625	0.70452	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.60040	0.22;0.4;0.22	5.37	5.37	0.77165	.	0.095629	0.64402	D	0.000001	T	0.71126	0.3303	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.62298	0.726;0.9	T	0.74213	-0.3738	10	0.62326	D	0.03	.	15.3813	0.74658	0.0:0.0:0.0:1.0	.	554;416	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	416;554;416	ENSP00000328222:I416S;ENSP00000369252:I554S;ENSP00000386734:I416S	ENSP00000328222:I416S	I	+	2	0	LRIT3	111011150	1.000000	0.71417	0.973000	0.42090	0.776000	0.43924	4.782000	0.62396	2.030000	0.59900	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	1	0	1	64	345	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	63	334	0	94	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGF	1950	broad.mit.edu	37	4	110864531	110864531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110864531C>T	ENST00000265171.5	+	3	894	c.449C>T	c.(448-450)tCc>tTc	p.S150F	EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.S150F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor			50		Hepatocellular(203;0.0893)		Sucralfate(DB00364)	GGAAATAATTCCCACATTCTT	0.303000																								0							SO:0001583	missense			ENST00000265171.5	1	1	hg19	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125930	0.56721	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.36878	1.23;1.23;1.23	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.449029	0.27797	N	0.017801	T	0.56848	0.2013	M	0.78916	2.43	0.26687	N	0.971421	D;D;D	0.71674	0.996;0.998;0.993	P;D;P	0.66716	0.885;0.946;0.885	T	0.54516	-0.8282	10	0.38643	T	0.18	.	11.1892	0.48675	0.1329:0.7219:0.1451:0.0	.	150;150;150	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	F	150	ENSP00000424316:S150F;ENSP00000265171:S150F;ENSP00000421384:S150F	ENSP00000265171:S150F	S	+	2	0	EGF	111083980	0.889000	0.30405	0.749000	0.31150	0.887000	0.51463	2.230000	0.42999	2.640000	0.89533	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1	1	0	1	48	188	0	69	0	1.911326e-01	0	4	0	69	2		0	0	0	0	0	2	1	1	47	178	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGF	1950	broad.mit.edu	37	4	110897320	110897320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110897320C>T	ENST00000265171.5	+	13	2427	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	EGF_ENST00000503392.1_Missense_Mutation_p.A661V|EGF_ENST00000509793.1_Missense_Mutation_p.A619V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor			50		Hepatocellular(203;0.0893)		Sucralfate(DB00364)	TGGTGCGATGCCAAGCAGTCT	0.478000																								0							SO:0001583	missense			ENST00000265171.5	1	1	hg19	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164830	0.78339	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96073	-3.9;-3.9;-3.9	5.77	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.505033	0.23461	N	0.047937	D	0.97133	0.9063	M	0.86864	2.845	0.35014	D	0.757176	P;B;P	0.49358	0.923;0.426;0.923	P;B;P	0.54174	0.744;0.36;0.676	D	0.99968	1.1898	10	0.87932	D	0	.	14.364	0.66792	0.0:0.9298:0.0:0.0702	.	661;619;661	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	V	619;661;661	ENSP00000424316:A619V;ENSP00000265171:A661V;ENSP00000421384:A661V	ENSP00000265171:A661V	A	+	2	0	EGF	111116769	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	2.021000	0.41020	1.440000	0.47531	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1	1	0	1	71	264	0	60	0	1.182848e-01	1	2	0	60	2		0	0	0	0	0	2	1	1	70	259	0	60	2								-20.000000	1	1	121408	1	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELOVL6	79071	broad.mit.edu	37	4	110972708	110972708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110972708G>A	ENST00000394607.3	-	5	747	c.584C>T	c.(583-585)gCc>gTc	p.A195V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6			8					GATGAACATGGCAAACTTCCG	0.537000																								0							SO:0001583	missense			ENST00000394607.3	1	1	hg19	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083593	0.94050	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.24538	1.85;1.85	5.97	5.13	0.70059	.	0.146407	0.64402	N	0.000007	T	0.58652	0.2137	M	0.91038	3.17	0.80722	D	1	D	0.59357	0.985	D	0.68943	0.961	T	0.67669	-0.5611	10	0.49607	T	0.09	-18.8957	15.3016	0.73955	0.0671:0.0:0.9329:0.0	.	195	Q9H5J4	ELOV6_HUMAN	V	195	ENSP00000378105:A195V;ENSP00000304736:A195V	ENSP00000304736:A195V	A	-	2	0	ELOVL6	111192157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.807000	0.99171	1.532000	0.49169	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	1	0	1	61	252	0	74	1	9.827345e-01	9	20	0	74	2		0	0	0	0	0	2	1	1	60	246	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPEP	2028	broad.mit.edu	37	4	111397683	111397683	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111397683G>A	ENST00000265162.5	+	1	455	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)			54		Hepatocellular(203;0.217)			CTTGCCGTGGGCTTGACCAGA	0.602000																								0							SO:0001583	missense			ENST00000265162.5	1	1	hg19	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246617	0.95305	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20739	-1.0266	10	0.36615	T	0.2	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	38	Q07075	AMPE_HUMAN	D	38	ENSP00000265162:G38D	ENSP00000265162:G38D	G	+	2	0	ENPEP	111617132	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.394000	0.97261	2.625000	0.88918	0.313000	0.20887	GGC		TCGA-IB-7651-01A-11D-2154-08	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2	1	0	1	165	706	0	132	0	9.269410e-01	0	21	0	132	2		0	0	0	0	0	2	1	1	161	690	0	129	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPEP	2028	broad.mit.edu	37	4	111431456	111431456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111431456G>A	ENST00000265162.5	+	6	1592	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)			54		Hepatocellular(203;0.217)			CTAAATGAAGGATTTGCTTCT	0.368000																								0							SO:0001583	missense			ENST00000265162.5	1	1	hg19	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098730	0.94197	.	.	ENSG00000138792	ENST00000265162	T	0.24350	1.86	5.4	5.4	0.78164	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85786	0.1364	10	0.87932	D	0	.	19.1557	0.93509	0.0:0.0:1.0:0.0	.	417	Q07075	AMPE_HUMAN	E	417	ENSP00000265162:G417E	ENSP00000265162:G417E	G	+	2	0	ENPEP	111650905	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.810000	0.99221	2.522000	0.85027	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2	1	0	1	77	356	0	100	0	8.044123e-01	0	16	0	100	2		0	0	0	0	0	2	1	1	74	350	0	100	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPEP	2028	broad.mit.edu	37	4	111436590	111436590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111436590G>A	ENST00000265162.5	+	8	1843	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)			54		Hepatocellular(203;0.217)			TTTTCAAAAAGGATGTCAGGT	0.294000																								0							SO:0001583	missense			ENST00000265162.5	1	1	hg19	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876316	0.91664	.	.	ENSG00000138792	ENST00000265162	T	0.06218	3.33	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69202	-0.5207	10	0.87932	D	0	.	19.5811	0.95468	0.0:0.0:1.0:0.0	.	501	Q07075	AMPE_HUMAN	R	501	ENSP00000265162:G501R	ENSP00000265162:G501R	G	+	1	0	ENPEP	111656039	1.000000	0.71417	0.966000	0.40874	0.898000	0.52572	9.452000	0.97615	2.643000	0.89663	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2	1	0	1	27	176	0	77	0	5.406297e-01	0	13	0	77	2		0	0	0	0	0	2	1	1	27	176	0	77	2								-2.845042	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999331	0.990000	1	9.900000e-01	1
TIFA	92610	broad.mit.edu	37	4	113199274	113199274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199274C>T	ENST00000361717.3	-	2	580	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain			6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)			CAGCTCTCTGCTGTCCACGAT	0.418000																								0							SO:0001583	missense			ENST00000361717.3	1	1	hg19	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.057156	0.00390	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	T;T	0.33216	1.42;1.42	5.79	-1.66	0.08265	Forkhead-associated (FHA) domain (4);	0.612544	0.19210	N	0.119945	T	0.04998	0.0134	N	0.00104	-2.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41179	-0.9523	10	0.02654	T	1	-3.6976	11.9285	0.52833	0.0:0.2501:0.0:0.7499	.	100	Q96CG3	TIFA_HUMAN	N	100	ENSP00000354911:S100N;ENSP00000424231:S100N	ENSP00000354911:S100N	S	-	2	0	TIFA	113418723	0.232000	0.23762	0.014000	0.15608	0.021000	0.10359	0.539000	0.23175	-0.544000	0.06232	-0.150000	0.13652	AGC		TCGA-IB-7651-01A-11D-2154-08	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	1	0	1	43	209	0	50	1	9.998187e-01	15	51	0	50	2		0	0	0	0	0	2	1	1	43	204	0	50	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIFA	92610	broad.mit.edu	37	4	113199287	113199287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199287G>A	ENST00000361717.3	-	2	567	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TIFA_ENST00000500655.2_Silent_p.L96L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain			6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)			TCCACGATCAGATTGGTCTTT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000361717.3	1	1	hg19	CCDS34051.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	1	0	1	45	225	0	51	1	9.999560e-01	15	63	0	51	2		0	0	0	0	0	2	1	1	45	221	0	51	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPK1	80216	broad.mit.edu	37	4	113303625	113303625	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113303625A>G	ENST00000458497.1	+	4	472	c.193A>G	c.(193-195)Aag>Gag	p.K65E	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1			53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)			CGTGCCTGAAAAGTGGCAGTA	0.522000																								0							SO:0001583	missense			ENST00000458497.1	1	1	hg19	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406216	0.83230	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.25085	1.82;1.82	5.63	5.63	0.86233	.	0.048760	0.85682	D	0.000000	T	0.49898	0.1584	M	0.73598	2.24	0.80722	D	1	P;D;D	0.69078	0.925;0.997;0.99	P;P;P	0.62740	0.54;0.906;0.768	T	0.54384	-0.8302	10	0.87932	D	0	-26.2083	15.839	0.78831	1.0:0.0:0.0:0.0	.	40;65;65	E7EX13;Q96QP1;B3KUH8	.;ALPK1_HUMAN;.	E	65;65;40	ENSP00000398048:K65E;ENSP00000177648:K65E	ENSP00000177648:K65E	K	+	1	0	ALPK1	113523074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.470000	0.73558	2.130000	0.65690	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	1	0	1	48	220	0	64	1	9.931231e-01	8	30	0	64	2		0	0	0	0	0	2	1	1	43	217	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPK1	80216	broad.mit.edu	37	4	113352444	113352444	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352444A>C	ENST00000458497.1	+	11	2020	c.1741A>C	c.(1741-1743)Agt>Cgt	p.S581R	ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R|ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1			53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)			CCAGACTTCCAGTGCTTGGAG	0.502000																								0							SO:0001583	missense			ENST00000458497.1	1	1	hg19	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548533	0.65311	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02916	4.19;4.19;4.11	5.34	-1.57	0.08506	.	0.809781	0.11477	N	0.560132	T	0.07007	0.0178	M	0.71581	2.175	0.09310	N	1	D;D;P	0.57571	0.98;0.966;0.933	P;P;P	0.54312	0.748;0.564;0.564	T	0.16660	-1.0395	10	0.87932	D	0	-1.4499	4.3225	0.11023	0.5207:0.0:0.2595:0.2198	.	503;503;581	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	581;581;503	ENSP00000398048:S581R;ENSP00000177648:S581R;ENSP00000426044:S503R	ENSP00000177648:S581R	S	+	1	0	ALPK1	113571893	0.034000	0.19679	0.002000	0.10522	0.863000	0.49368	0.264000	0.18497	-0.514000	0.06488	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	1	0	1	63	313	0	87	1	9.993012e-01	10	46	0	87	2		0	0	0	0	0	2	1	1	63	308	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPK1	80216	broad.mit.edu	37	4	113352781	113352781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352781G>A	ENST00000458497.1	+	11	2357	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1			53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)			CTTCTAGAAGGAGCTCCAGAA	0.498000																								0							SO:0001583	missense			ENST00000458497.1	1	1	hg19	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792700	0.31685	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.32;4.32;4.24	4.65	-0.601	0.11638	.	1.614930	0.03874	N	0.276041	T	0.03871	0.0109	L	0.54323	1.7	0.09310	N	1	B;B;B	0.24882	0.033;0.113;0.02	B;B;B	0.27170	0.067;0.077;0.018	T	0.47471	-0.9115	10	0.20046	T	0.44	0.031	4.372	0.11253	0.345:0.0:0.5098:0.1452	.	615;615;693	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	693;693;615	ENSP00000398048:G693E;ENSP00000177648:G693E;ENSP00000426044:G615E	ENSP00000177648:G693E	G	+	2	0	ALPK1	113572230	0.000000	0.05858	0.001000	0.08648	0.380000	0.30137	-0.067000	0.11579	-0.212000	0.10109	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	1	0	1	52	239	0	70	1	9.851690e-01	3	30	0	70	2		0	0	0	0	0	2	1	1	52	235	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALPK1	80216	broad.mit.edu	37	4	113360948	113360948	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113360948A>G	ENST00000458497.1	+	14	3737	c.3458A>G	c.(3457-3459)aAa>aGa	p.K1153R	ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R|ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1			53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)			ACAGAATACAAAGCCACAGAA	0.373000																								0							SO:0001583	missense			ENST00000458497.1	1	1	hg19	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457223	0.63401	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.14144	2.53;2.53;2.53	5.05	3.86	0.44501	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.376195	0.29707	N	0.011410	T	0.20373	0.0490	N	0.17674	0.51	0.25132	N	0.990568	D;D;D	0.89917	0.996;1.0;0.971	D;D;P	0.77004	0.922;0.989;0.855	T	0.04796	-1.0926	10	0.45353	T	0.12	-14.5214	10.6883	0.45856	0.924:0.0:0.076:0.0	.	1075;1075;1153	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	R	1153;1153;1075	ENSP00000398048:K1153R;ENSP00000177648:K1153R;ENSP00000426044:K1075R	ENSP00000177648:K1153R	K	+	2	0	ALPK1	113580397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.589000	0.46145	0.764000	0.33197	0.445000	0.29226	AAA		TCGA-IB-7651-01A-11D-2154-08	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	1	0	0	8	193	0	42	1	6.143435e-01	3	46	0	42	2		0	0	0	0	0	2	1	9.860520e-01	7	179	0	40	2								-4.125986	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.500000	0.230000	1.000000	0.460000	0.539040	0.500000	0	3.400000e-01	7.200000e-01
C4orf21	0	broad.mit.edu	37	4	113502905	113502905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113502905G>T	ENST00000505019.1	-	16	4477	c.4352C>A	c.(4351-4353)aCt>aAt	p.T1451N		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN				45		Ovarian(17;0.156)			AGGATTTACAGTAGTAAACTT	0.289000																								0							SO:0001583	missense			ENST00000505019.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.492	0.458880	0.12342	.	.	ENSG00000138658	ENST00000505019	D	0.81821	-1.54	5.19	1.16	0.20824	.	1.178510	0.06265	N	0.694642	T	0.59252	0.2180	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.47471	-0.9115	10	0.17369	T	0.5	-3.9906	4.3025	0.10932	0.2408:0.0:0.3005:0.4587	.	1451	G5EA02	.	N	1451	ENSP00000424737:T1451N	ENSP00000404365:T349N	T	-	2	0	C4orf21	113722354	0.031000	0.19500	0.001000	0.08648	0.859000	0.49053	0.934000	0.28910	0.640000	0.30582	0.561000	0.74099	ACT		TCGA-IB-7651-01A-11D-2154-08	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	1	0	0	24	110	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.999999e-01	24	110	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
C4orf21	0	broad.mit.edu	37	4	113538718	113538718	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113538718G>A	ENST00000505019.1	-	6	2605	c.2480C>T	c.(2479-2481)tCt>tTt	p.S827F	C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F|C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN				45		Ovarian(17;0.156)			CTTTAAAATAGAAATGGTATT	0.378000																								0							SO:0001583	missense			ENST00000505019.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.52	2.856696	0.51376	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.86956	-2.19;1.34;0.91	5.98	4.2	0.49525	.	0.378963	0.23192	N	0.050884	D	0.89220	0.6653	M	0.71581	2.175	0.09310	N	1	D;D	0.65815	0.995;0.977	P;P	0.56216	0.705;0.794	T	0.81936	-0.0705	10	0.87932	D	0	-0.832	6.088	0.19978	0.073:0.134:0.6544:0.1386	.	827;827	Q86YA3;G5EA02	CD021_HUMAN;.	F	827;827;796	ENSP00000424737:S827F;ENSP00000309095:S827F;ENSP00000390505:S796F	ENSP00000309095:S827F	S	-	2	0	C4orf21	113758167	0.074000	0.21230	0.099000	0.21106	0.962000	0.63368	1.023000	0.30065	0.798000	0.33994	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	1	0	1	50	240	0	53	0	2.127966e-01	0	5	0	53	2		0	0	0	0	0	2	1	1	49	237	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C4orf21	0	broad.mit.edu	37	4	113539394	113539394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113539394T>C	ENST00000505019.1	-	6	1929	c.1804A>G	c.(1804-1806)Aca>Gca	p.T602A	C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A|C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN				45		Ovarian(17;0.156)			ACAGGAAATGTCACTGTAGGT	0.353000																								0							SO:0001583	missense			ENST00000505019.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.77	1.736409	0.30774	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.81996	-1.56;1.94;1.55	4.65	-2.87	0.05700	.	1.612590	0.03166	N	0.170010	T	0.67021	0.2849	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.58918	-0.7551	10	0.02654	T	1	1.7342	6.8986	0.24271	0.0:0.163:0.5016:0.3353	.	602;602	Q86YA3;G5EA02	CD021_HUMAN;.	A	602;602;571	ENSP00000424737:T602A;ENSP00000309095:T602A;ENSP00000390505:T571A	ENSP00000309095:T602A	T	-	1	0	C4orf21	113758843	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	-0.726000	0.04936	-0.560000	0.06102	0.455000	0.32223	ACA		TCGA-IB-7651-01A-11D-2154-08	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1	1	0	1	92	416	0	104	0	0	0	1	0	104	2		0	0	0	0	0	2	1	1	91	407	0	103	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK2	287	broad.mit.edu	37	4	113970914	113970914	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113970914C>T	ENST00000357077.4	+	1	83	c.30C>T	c.(28-30)agC>agT	p.S10S	ANK2_ENST00000264366.6_Silent_p.S10S|RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000394537.3_Silent_p.S10S|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			CTCAGAAAAGCGACAGTGGAG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000357077.4	1	1	hg19	CCDS3702.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	1	25	177	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.999998e-01	24	169	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.980000	1.000000	1.000000	0.997890	0.990000	1	9.900000e-01	1
HS3ST1	9957	broad.mit.edu	37	4	11400937	11400937	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11400937G>A	ENST00000002596.5	-	2	1867	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1			15					GGAACCTCTCGACCTTTTGGA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000002596.5	1	1	hg19	CCDS3408.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	1	0	1	31	188	0	25	1	9.999997e-01	68	82	0	25	2		0	0	0	0	0	2	1	1	31	182	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999853	0.990000	1	9.900000e-01	1
HS3ST1	9957	broad.mit.edu	37	4	11401429	11401429	+	Silent	SNP	C	C	T	rs148222581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11401429C>T	ENST00000002596.5	-	2	1375	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1			15					GCAGTGCGCGCGTGCCGCCCT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000002596.5	1	1	hg19	CCDS3408.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	1	0	1	52	248	0	48	1	9.999845e-01	38	43	0	48	2		0	0	0	0	0	2	1	1	53	241	0	47	2								-20.000000	1	1	121244	3	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK2	287	broad.mit.edu	37	4	114158175	114158175	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158175G>T	ENST00000357077.4	+	6	569	c.516G>T	c.(514-516)caG>caT	p.Q172H	ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			TGGCACTCCAGCAAGGACACA	0.473000																								0							SO:0001583	missense			ENST00000357077.4	1	1	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072752	0.76415	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	T;T;T;T;T;T;T;T	0.65732	-0.17;0.6;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.57	3.79	0.43588	Ankyrin repeat-containing domain (4);	0.000000	0.48767	D	0.000163	T	0.66839	0.2830	L	0.28400	0.85	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;0.999;0.998	D;D;D;D;D	0.87578	0.998;0.917;0.998;0.99;0.953	T	0.69143	-0.5223	10	0.66056	D	0.02	.	10.8166	0.46580	0.2606:0.0:0.7394:0.0	.	172;172;172;151;151	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	151;151;151;187;172;172;172;151;37	ENSP00000423799:Q151H;ENSP00000421011:Q151H;ENSP00000421067:Q151H;ENSP00000424722:Q187H;ENSP00000378044:Q172H;ENSP00000349588:Q172H;ENSP00000264366:Q172H;ENSP00000421059:Q37H	ENSP00000264366:Q172H	Q	+	3	2	ANK2	114377624	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.724000	0.47285	1.453000	0.47775	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	0	92	485	0	131	0	2.491064e-01	0	6	0	131	2		0	0	0	0	0	2	1	1	90	477	0	130	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK2	287	broad.mit.edu	37	4	114158312	114158312	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158312C>A	ENST00000357077.4	+	6	706	c.653C>A	c.(652-654)gCt>gAt	p.A218D	ANK2_ENST00000264366.6_Missense_Mutation_p.A218D|ANK2_ENST00000394537.3_Missense_Mutation_p.A218D|ANK2_ENST00000506722.1_Missense_Mutation_p.A197D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			GACCACAATGCTGACGTACAA	0.488000																								0							SO:0001583	missense			ENST00000357077.4	1	1	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896285	0.91962	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71698	-0.59;-0.13;-0.38;-0.27;-0.59;-0.32;-0.32	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000096	T	0.79851	0.4517	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.922;1.0;0.999;0.998	T	0.80569	-0.1324	10	0.66056	D	0.02	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	218;218;218;197;197	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	D	197;197;197;233;218;218;218;197	ENSP00000423799:A197D;ENSP00000421011:A197D;ENSP00000421067:A197D;ENSP00000424722:A233D;ENSP00000378044:A218D;ENSP00000349588:A218D;ENSP00000264366:A218D	ENSP00000264366:A218D	A	+	2	0	ANK2	114377761	1.000000	0.71417	0.637000	0.29366	0.752000	0.42762	7.776000	0.85560	2.775000	0.95449	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1	105	535	0	124	0	4.512802e-01	0	9	0	124	2		0	0	0	0	0	2	1	1	103	526	0	123	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK2	287	broad.mit.edu	37	4	114161660	114161660	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161660A>G	ENST00000357077.4	+	8	766	c.713A>G	c.(712-714)cAc>cGc	p.H238R	ANK2_ENST00000264366.6_Missense_Mutation_p.H238R|ANK2_ENST00000394537.3_Missense_Mutation_p.H238R|ANK2_ENST00000506722.1_Missense_Mutation_p.H217R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			ACCCCTTTGCACATAGCTGCA	0.433000																								0							SO:0001583	missense			ENST00000357077.4	1	1	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553975	0.86231	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71103	-0.48;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000055	D	0.86847	0.6031	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.984	D	0.89512	0.3772	10	0.72032	D	0.01	.	15.5709	0.76337	1.0:0.0:0.0:0.0	.	238;238;238;217;217	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	217;217;217;253;238;238;238;217	ENSP00000423799:H217R;ENSP00000421011:H217R;ENSP00000421067:H217R;ENSP00000424722:H253R;ENSP00000378044:H238R;ENSP00000349588:H238R;ENSP00000264366:H238R	ENSP00000264366:H238R	H	+	2	0	ANK2	114381109	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.212000	0.71576	0.528000	0.53228	CAC		TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1	67	306	0	76	0	1.523092e-01	0	4	0	76	2		0	0	0	0	0	2	1	1	67	301	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK2	287	broad.mit.edu	37	4	114163362	114163362	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114163362T>C	ENST00000357077.4	+	9	941	c.888T>C	c.(886-888)acT>acC	p.T296T	ANK2_ENST00000264366.6_Silent_p.T296T|ANK2_ENST00000394537.3_Silent_p.T296T|ANK2_ENST00000506722.1_Silent_p.T275T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			ATGCCAAAACTAGGGTGAGTG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000357077.4	1	1	hg19	CCDS3702.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1	48	203	0	55	0	3.292422e-01	1	5	0	55	2		0	0	0	0	0	2	1	1	48	196	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK2	287	broad.mit.edu	37	4	114257193	114257193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114257193C>T	ENST00000357077.4	+	30	3624	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W	ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W|ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	p.R1191W(1)		248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			ACTCACCAAGCGGATCCGCGT	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000357077.4	1	1	hg19	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911636|3.911636	0.72983|0.72983	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T	.|0.74315	.|-0.83;-0.83;-0.83;-0.83;-0.39;-0.4;-0.83	5.27|5.27	1.04|1.04	0.20106|0.20106	.|.	.|0.000000	.|0.44688	.|D	.|0.000439	D|D	0.84311|0.84311	0.5444|0.5444	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D;D;D	.|0.87578	.|0.969;0.994;0.969;0.982;0.998;0.967;0.975	D|D	0.85192|0.85192	0.1010|0.1010	5|9	.|.	.|.	.|.	.|.	16.0621|16.0621	0.80843|0.80843	0.6236:0.3764:0.0:0.0|0.6236:0.3764:0.0:0.0	.|.	.|367;1158;203;1191;1191;1182;1182	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	V|W	203|1104;1182;237;1206;1191;1191;1158;1182;367	.|ENSP00000421011:R1104W;ENSP00000421067:R1182W;ENSP00000424722:R1206W;ENSP00000378044:R1191W;ENSP00000349588:R1191W;ENSP00000264366:R1158W;ENSP00000426944:R367W	.|.	A|R	+|+	2|1	0|2	ANK2|ANK2	114476642|114476642	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	0.448000|0.448000	0.21726|0.21726	0.559000|0.559000	0.29153|0.29153	0.655000|0.655000	0.94253|0.94253	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	0	28	356	0	58	0	1.992776e-01	0	11	0	58	2		0	0	0	0	0	2	1	1	28	353	0	57	2								-8.435488	1	1	121412	2	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.870000	0.590000	1.000000	1.000000	0.864871	0.870000	1	7.200000e-01	1
ANK2	287	broad.mit.edu	37	4	114264287	114264287	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114264287C>T	ENST00000357077.4	+	34	4290	c.4237C>T	c.(4237-4239)Cta>Tta	p.L1413L	ANK2_ENST00000264366.6_Silent_p.L1380L|ANK2_ENST00000509550.1_Silent_p.L589L|ANK2_ENST00000394537.3_Silent_p.L1413L|ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000510275.2_Silent_p.L65L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			TAGACTTCCTCTATTTGTCAA	0.328000																								0							SO:0001819	synonymous_variant			ENST00000357077.4	1	1	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	7.665	0.685802	0.14973	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.5	4.66	0.58398	.	.	.	.	.	T	0.59622	0.2207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	.	9.0002	0.36077	0.0:0.7784:0.0:0.2216	.	.	.	.	F	425	.	.	S	+	2	0	ANK2	114483736	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.770000	0.47662	1.321000	0.45227	-0.143000	0.13931	TCT		TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1	50	229	0	52	0	7.779301e-01	0	15	0	52	2		0	0	0	0	0	2	1	1	49	229	0	52	2								-2.980187	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK2	287	broad.mit.edu	37	4	114279143	114279143	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114279143C>T	ENST00000357077.4	+	38	9422	c.9369C>T	c.(9367-9369)tcC>tcT	p.S3123S	ANK2_ENST00000264366.6_Silent_p.S3090S|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			CCAAAAGGTCCTATGCAGATG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000357077.4	1	1	hg19	CCDS3702.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	1	0	1	47	218	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	43	213	0	46	2								-3.411435	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK2	287	broad.mit.edu	37	4	114282046	114282046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114282046C>A	ENST00000357077.4	+	39	10802	c.10749C>A	c.(10747-10749)agC>agA	p.S3583R	ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R|ANK2_ENST00000509550.1_Missense_Mutation_p.S674R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R|ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			TTGGCTTCAGCTGGACAGGTA	0.463000																								0							SO:0001583	missense			ENST00000357077.4	1	1	hg19	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.15|18.15	3.560749|3.560749	0.65538|0.65538	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|D;D;D;D;D;D;D	.|0.85556	.|-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.52|5.52	4.56|4.56	0.56223|0.56223	.|.	.|0.173471	.|0.40385	.|N	.|0.001109	D|D	0.91331|0.91331	0.7266|0.7266	M|M	0.77313|0.77313	2.365|2.365	0.39653|0.39653	D|D	0.970495|0.970495	.|D;D;D;D;D;D	.|0.89917	.|0.985;0.999;0.985;0.995;1.0;0.975	.|D;D;D;D;D;P	.|0.91635	.|0.914;0.988;0.936;0.975;0.999;0.837	D|D	0.92053|0.92053	0.5650|0.5650	5|10	.|0.62326	.|D	.|0.03	.|.	12.2485|12.2485	0.54585|0.54585	0.0:0.8502:0.0:0.1498|0.0:0.8502:0.0:0.1498	.|.	.|674;533;499;1498;3583;1489	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	M|R	500;151|1489;533;1498;3583;3550;1489;674;150;593	.|ENSP00000421067:S1489R;ENSP00000378044:S1498R;ENSP00000349588:S3583R;ENSP00000264366:S3550R;ENSP00000426944:S674R;ENSP00000421023:S150R;ENSP00000422498:S593R	.|ENSP00000264366:S3550R	L|S	+|+	1|3	2|2	ANK2|ANK2	114501495|114501495	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.604000|0.604000	0.24164|0.24164	2.603000|2.603000	0.88011|0.88011	0.557000|0.557000	0.71058|0.71058	CTG|AGC		TCGA-IB-7651-01A-11D-2154-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	0	8	78	0	24	0	3.836812e-01	0	13	0	24	2		0	0	0	0	0	2	0	2.297448e-01	8	78	1	24	12								-13.502920	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.540000	1.000000	1.000000	0.928187	0.990000	1	7.900000e-01	1
CAMK2D	817	broad.mit.edu	37	4	114430832	114430832	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114430832C>A	ENST00000342666.5	-	13	946		c.e13-1		CAMK2D_ENST00000508738.1_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site|CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000454265.2_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000429180.1_Splice_Site			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta			13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)			CTCTTGGCTGCTGTAAAATGA	0.393000																								0							SO:0001630	splice_region_variant			ENST00000342666.5	1	1	hg19	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027771	0.75390	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000513132;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMK2D	114650281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.102000	0.64572	2.882000	0.98803	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2	1	0	0	22	211	0	31	0	5.166355e-02	0	4	0	31	2		0	0	0	0	0	2	1	9.999989e-01	22	207	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.730000	1.000000	1.000000	0.967307	0.990000	1	9.100000e-01	1
NDST4	64579	broad.mit.edu	37	4	115769425	115769425	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115769425G>C	ENST00000264363.2	-	9	2564	c.1886C>G	c.(1885-1887)aCa>aGa	p.T629R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4			81		Ovarian(17;0.156)			TTCCTCAAATGTCTTTGGACT	0.308000																								0							SO:0001583	missense			ENST00000264363.2	1	1	hg19	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416859	0.83449	.	.	ENSG00000138653	ENST00000264363	D	0.82344	-1.6	5.71	5.71	0.89125	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92289	0.5840	10	0.87932	D	0	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	629	Q9H3R1	NDST4_HUMAN	R	629	ENSP00000264363:T629R	ENSP00000264363:T629R	T	-	2	0	NDST4	115988874	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	9.406000	0.97321	2.687000	0.91594	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	1	0	1	81	290	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	79	285	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDST4	64579	broad.mit.edu	37	4	115856370	115856370	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115856370G>T	ENST00000264363.2	-	6	2206	c.1528C>A	c.(1528-1530)Cta>Ata	p.L510I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4			81		Ovarian(17;0.156)			ACTGGGTTTAGAAGGATTGTG	0.323000																								0							SO:0001583	missense			ENST00000264363.2	1	1	hg19	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356548	0.61293	.	.	ENSG00000138653	ENST00000264363	T	0.38560	1.13	5.12	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.75777	2.31	0.53688	D	0.999978	P	0.38420	0.63	B	0.40602	0.334	T	0.49688	-0.8913	10	0.46703	T	0.11	.	13.4805	0.61332	0.076:0.0:0.924:0.0	.	510	Q9H3R1	NDST4_HUMAN	I	510	ENSP00000264363:L510I	ENSP00000264363:L510I	L	-	1	2	NDST4	116075819	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.918000	0.87506	1.128000	0.42052	0.591000	0.81541	CTA		TCGA-IB-7651-01A-11D-2154-08	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	1	0	1	66	232	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	66	228	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPON2	10417	broad.mit.edu	37	4	1165096	1165096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1165096G>A	ENST00000290902.5	-	3	731	c.399C>T	c.(397-399)acC>acT	p.T133T	SPON2_ENST00000431380.1_Silent_p.T133T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein			9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)		ACGTCTGCCCGGTGCCGCTGG	0.791000																								0							SO:0001819	synonymous_variant			ENST00000290902.5	1	1	hg19	CCDS3347.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2	1	0	0	20	67	0	22	0	9.999996e-01	0	100	0	22	2		0	0	0	0	0	2	1	9.999977e-01	20	65	0	21	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
TRAM1L1	133022	broad.mit.edu	37	4	118006158	118006158	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118006158A>C	ENST00000310754.4	-	1	578	c.392T>G	c.(391-393)tTt>tGt	p.F131C		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1			22					AATACAAGAAAAAAAGTAGAA	0.378000																								0							SO:0001583	missense			ENST00000310754.4	1	1	hg19	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285381	0.23478	.	.	ENSG00000174599	ENST00000310754	D	0.86366	-2.11	4.29	3.1	0.35709	TRAM/LAG1/CLN8 homology domain (3);	0.153083	0.64402	D	0.000015	D	0.87418	0.6172	L	0.36672	1.1	0.37683	D	0.923555	D	0.58620	0.983	D	0.63793	0.918	D	0.87434	0.2390	10	0.56958	D	0.05	-27.7925	8.2484	0.31702	0.9029:0.0:0.0971:0.0	.	131	Q8N609	TR1L1_HUMAN	C	131	ENSP00000309402:F131C	ENSP00000309402:F131C	F	-	2	0	TRAM1L1	118225606	1.000000	0.71417	0.008000	0.14137	0.005000	0.04900	6.273000	0.72581	0.970000	0.38263	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	1	0	1	71	309	0	71	0	4.611523e-01	0	8	0	71	2		0	0	0	0	0	2	1	1	71	304	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDST3	9348	broad.mit.edu	37	4	118975655	118975655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118975655C>T	ENST00000296499.5	+	2	993	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3			54					TGTATTAATCCTCATTCTCCA	0.358000																								0							SO:0001583	missense			ENST00000296499.5	1	1	hg19	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958808	0.53400	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.48836	1.16;0.8	5.07	5.07	0.68467	.	0.052125	0.85682	D	0.000000	T	0.66674	0.2813	M	0.76574	2.34	0.80722	D	1	P;P;D	0.56746	0.863;0.788;0.977	P;P;P	0.58928	0.681;0.848;0.647	T	0.71902	-0.4452	10	0.87932	D	0	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	197;197;197	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	197	ENSP00000296499:P197L;ENSP00000396625:P197L	ENSP00000296499:P197L	P	+	2	0	NDST3	119195103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.346000	0.79739	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	1	0	1	114	557	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	1	113	550	0	122	2								-3.233212	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDST3	9348	broad.mit.edu	37	4	119145758	119145758	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119145758C>T	ENST00000296499.5	+	7	2055	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3			54					CGACTTCAGACTCTGCCTCCA	0.418000																								0							SO:0001583	missense			ENST00000296499.5	1	1	hg19	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032221	0.93575	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47177	1.11;0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	M	0.83692	2.655	0.46823	D	0.999214	D;D	0.89917	0.986;1.0	P;D	0.76575	0.835;0.988	T	0.76085	-0.3088	10	0.66056	D	0.02	.	19.649	0.95793	0.0:1.0:0.0:0.0	.	470;551	B4DI67;O95803	.;NDST3_HUMAN	I	551;470	ENSP00000296499:T551I;ENSP00000396625:T470I	ENSP00000296499:T551I	T	+	2	0	NDST3	119365206	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.694000	0.84235	2.635000	0.89317	0.650000	0.86243	ACT		TCGA-IB-7651-01A-11D-2154-08	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	1	0	1	47	382	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	46	371	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.998071	0.990000	1	9.900000e-01	1
PRSS12	8492	broad.mit.edu	37	4	119203216	119203216	+	Missense_Mutation	SNP	C	C	T	rs139833696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203216C>T	ENST00000296498.3	-	13	2785	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	p.G835R(1)		29					CAGCTCTCTCCGGGCCGTTCA	0.547000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000296498.3	1	1	hg19	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594280	0.66219	2.27E-4	1.16E-4	ENSG00000164099	ENST00000296498	D	0.93366	-3.21	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.394294	0.30338	N	0.009857	D	0.93943	0.8061	L	0.28556	0.865	0.37830	D	0.92869	D	0.89917	1.0	D	0.71656	0.974	D	0.94576	0.7775	10	0.62326	D	0.03	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	835	P56730	NETR_HUMAN	R	835	ENSP00000296498:G835R	ENSP00000296498:G835R	G	-	1	0	PRSS12	119422664	0.997000	0.39634	0.034000	0.17996	0.379000	0.30106	4.465000	0.60141	2.941000	0.99782	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2	1	0	1	80	372	1	99	1	9.969999e-01	17	47	1	99	4		0	0	0	0	0	2	1	1	79	361	1	99	16								-2.995722	1	1	121412	50	47	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS12	8492	broad.mit.edu	37	4	119203366	119203366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203366C>A	ENST00000296498.3	-	13	2635	c.2353G>T	c.(2353-2355)Gcc>Tcc	p.A785S	SNHG8_ENST00000384096.1_lincRNA|PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)			29					AAGGGAATGGCTGCTTGTTGT	0.433000																								0							SO:0001583	missense			ENST00000296498.3	1	1	hg19	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361803	0.24684	.	.	ENSG00000164099	ENST00000296498	D	0.88277	-2.36	6.08	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254753	0.44902	D	0.000414	T	0.69940	0.3167	N	0.01515	-0.825	0.35163	D	0.770848	P	0.36354	0.549	B	0.33295	0.161	T	0.76022	-0.3111	10	0.06757	T	0.87	.	15.609	0.76699	0.0:0.9342:0.0:0.0658	.	785	P56730	NETR_HUMAN	S	785	ENSP00000296498:A785S	ENSP00000296498:A785S	A	-	1	0	PRSS12	119422814	0.936000	0.31750	1.000000	0.80357	0.991000	0.79684	1.336000	0.33850	1.586000	0.49944	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2	1	0	1	84	409	0	86	1	9.989779e-01	29	23	0	86	2		0	0	0	0	0	2	1	1	82	401	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS12	8492	broad.mit.edu	37	4	119234403	119234403	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119234403A>G	ENST00000296498.3	-	7	1724	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)			29					GGCAATGCTAACATCTTCGCG	0.547000																								0							SO:0001583	missense			ENST00000296498.3	1	1	hg19	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.389899	0.25118	.	.	ENSG00000164099	ENST00000296498	T	0.32272	1.46	5.92	4.75	0.60458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.164162	0.53938	N	0.000056	T	0.31638	0.0803	N	0.17872	0.535	0.44424	D	0.997348	D	0.53462	0.96	P	0.57152	0.814	T	0.03374	-1.1043	10	0.22109	T	0.4	.	11.9127	0.52747	0.9322:0.0:0.0678:0.0	.	481	P56730	NETR_HUMAN	A	481	ENSP00000296498:V481A	ENSP00000296498:V481A	V	-	2	0	PRSS12	119453851	0.994000	0.37717	0.205000	0.23548	0.554000	0.35429	6.231000	0.72307	1.061000	0.40601	0.528000	0.53228	GTT		TCGA-IB-7651-01A-11D-2154-08	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2	1	0	1	38	213	0	41	1	9.979822e-01	12	44	0	41	2		0	0	0	0	0	2	1	1	37	209	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
PRSS12	8492	broad.mit.edu	37	4	119253000	119253000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119253000C>T	ENST00000296498.3	-	4	1124	c.842G>A	c.(841-843)cGc>cAc	p.R281H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)			29					TCCAGCAAGGCGAATGATGGG	0.458000																								0							SO:0001583	missense			ENST00000296498.3	1	1	hg19	CCDS3709.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.21	3.574041	0.65765	.	.	ENSG00000164099	ENST00000296498	T	0.53857	0.6	6.04	5.19	0.71726	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	H	0.98883	4.36	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90794	0.4689	10	0.87932	D	0	.	15.8315	0.78757	0.0:0.8652:0.1348:0.0	.	281	P56730	NETR_HUMAN	H	281	ENSP00000296498:R281H	ENSP00000296498:R281H	R	-	2	0	PRSS12	119472448	1.000000	0.71417	0.734000	0.30879	0.017000	0.09413	7.118000	0.77137	1.557000	0.49525	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2	1	0	1	51	262	0	74	1	9.940338e-01	27	16	0	74	2		0	0	0	0	0	2	1	1	51	257	0	72	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC24D	9871	broad.mit.edu	37	4	119736284	119736284	+	Missense_Mutation	SNP	C	C	T	rs73842254	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119736284C>T	ENST00000280551.6	-	6	938	c.700G>A	c.(700-702)Gca>Aca	p.A234T	SEC24D_ENST00000379735.5_Missense_Mutation_p.A235T|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D			37					GACAGTTGTGCGCCTGCCATC	0.512000																								0							SO:0001583	missense			ENST00000280551.6	1	0	hg19	CCDS3710.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	3.583	-0.085222	0.07097	0.010894	0.0	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.77229	2.01;-1.08	5.55	-0.69	0.11309	.	0.583975	0.19166	N	0.121062	T	0.41511	0.1162	L	0.40543	1.245	0.23314	N	0.99793	B;B	0.31459	0.269;0.324	B;B	0.23852	0.049;0.049	T	0.33085	-0.9882	10	0.17369	T	0.5	-0.9193	3.6618	0.08241	0.1253:0.3664:0.3657:0.1426	.	235;234	O94855-2;O94855	.;SC24D_HUMAN	T	234;235	ENSP00000280551:A234T;ENSP00000369059:A235T	ENSP00000280551:A234T	A	-	1	0	SEC24D	119955732	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.474000	0.06607	-0.546000	0.06216	-1.289000	0.01358	GCA		TCGA-IB-7651-01A-11D-2154-08	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4	1	0	1	31	286	0	69	1	9.999998e-01	13	217	0	69	2		0	0	0	0	0	2	1	1	31	281	0	69	2								-8.957620	1	1	121412	147	52	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.982656	0.990000	1	9.700000e-01	1
SYNPO2	171024	broad.mit.edu	37	4	119978917	119978917	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119978917A>G	ENST00000307142.4	+	5	3810	c.3614A>G	c.(3613-3615)aAt>aGt	p.N1205S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2			64					ACAGCCAATAATAATATGTCC	0.433000																								0							SO:0001583	missense			ENST00000307142.4	1	1	hg19	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.961529	0.00465	.	.	ENSG00000172403	ENST00000307142	T	0.06687	3.27	5.76	-7.26	0.01466	.	1.365610	0.05007	N	0.470170	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.43589	-0.9382	9	.	.	.	-1.0E-4	13.3281	0.60471	0.2603:0.0:0.6428:0.0969	.	1205;1205	B9EG60;Q9UMS6-2	.;.	S	1205	ENSP00000306015:N1205S	.	N	+	2	0	SYNPO2	120198365	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.320000	0.19540	-1.144000	0.02862	-0.256000	0.11100	AAT		TCGA-IB-7651-01A-11D-2154-08	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1	1	0	1	90	399	0	114	0	6.298298e-01	0	11	0	114	2		0	0	0	0	0	2	1	1	87	390	0	114	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYOZ2	51778	broad.mit.edu	37	4	120072119	120072119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120072119C>T	ENST00000307128.5	+	3	382	c.169C>T	c.(169-171)Cta>Tta	p.L57L		NM_016599.4	NP_057683.1			myozenin 2			16					TGGTGCCAGGCTATTTAAGAT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000307128.5	1	1	hg19	CCDS3711.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2	1	0	1	79	343	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	1	78	336	0	93	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYOZ2	51778	broad.mit.edu	37	4	120079184	120079184	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120079184T>G	ENST00000307128.5	+	4	467	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_016599.4	NP_057683.1			myozenin 2			16					CAGCACAGTATTGCTATGCAG	0.408000																								0							SO:0001583	missense			ENST00000307128.5	1	1	hg19	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	T	3.262	-0.150916	0.06585	.	.	ENSG00000172399	ENST00000307128	T	0.64438	-0.1	5.7	4.45	0.53987	.	1.093690	0.06764	N	0.782303	T	0.45836	0.1362	L	0.34521	1.04	0.09310	N	1	P	0.35872	0.525	B	0.31101	0.124	T	0.29912	-0.9996	10	0.09590	T	0.72	-2.3569	7.3584	0.26731	0.171:0.0:0.1213:0.7076	.	85	Q9NPC6	MYOZ2_HUMAN	S	85	ENSP00000306997:I85S	ENSP00000306997:I85S	I	+	2	0	MYOZ2	120298632	0.062000	0.20869	0.710000	0.30468	0.918000	0.54935	2.156000	0.42310	2.163000	0.67991	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2	1	0	1	85	412	0	113	0	1.405906e-01	0	4	0	113	2		0	0	0	0	0	2	1	1	83	406	0	113	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYOZ2	51778	broad.mit.edu	37	4	120085546	120085546	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120085546A>G	ENST00000307128.5	+	5	770	c.557A>G	c.(556-558)aAc>aGc	p.N186S		NM_016599.4	NP_057683.1			myozenin 2			16					AGGAGCTTTAACAGGTAATTC	0.398000																								0							SO:0001583	missense			ENST00000307128.5	0	1	hg19	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595357	0.86953	.	.	ENSG00000172399	ENST00000307128	T	0.80480	-1.38	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92076	0.5668	10	0.87932	D	0	-26.911	16.4277	0.83824	1.0:0.0:0.0:0.0	.	186	Q9NPC6	MYOZ2_HUMAN	S	186	ENSP00000306997:N186S	ENSP00000306997:N186S	N	+	2	0	MYOZ2	120304994	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.781000	0.91805	2.279000	0.76181	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2	0	0	0	6	230	0	53	0	2.879646e-03	0	3	0	53	2		0	0	0	0	0	2	1	9.611392e-01	6	221	0	53	2								-7.843953	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.330000	0.130000	1.000000	0.300000	0.377877	0.330000	0	2.100000e-01	5.000000e-01
USP53	54532	broad.mit.edu	37	4	120177606	120177606	+	Missense_Mutation	SNP	G	G	A	rs141895329	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120177606G>A	ENST00000274030.6	+	9	1676	c.497G>A	c.(496-498)cGt>cAt	p.R166H	USP53_ENST00000450251.1_Missense_Mutation_p.R166H	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53			27					TGTGTGTGTCGTAGCTGTGGA	0.333000																								0							SO:0001583	missense			ENST00000274030.6	1	1	hg19	CCDS43265.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.82	3.705380	0.68615	2.65E-4	0.0	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.31510	1.49;1.49	5.6	4.76	0.60689	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.156127	0.64402	N	0.000016	T	0.40372	0.1114	L	0.31065	0.9	0.36361	D	0.860725	D	0.89917	1.0	D	0.79784	0.993	T	0.49113	-0.8973	10	0.52906	T	0.07	-11.342	9.8648	0.41136	0.0731:0.1396:0.7873:0.0	.	166	Q70EK8	UBP53_HUMAN	H	166	ENSP00000274030:R166H;ENSP00000409906:R166H	ENSP00000274030:R166H	R	+	2	0	USP53	120397054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.720000	0.68470	1.354000	0.45846	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	1	0	1	90	388	0	92	1	9.999313e-01	13	49	0	92	2		0	0	0	0	0	2	1	1	88	380	0	92	2								-3.318794	1	1	120828	25	46	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP53	54532	broad.mit.edu	37	4	120190845	120190845	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120190845G>A	ENST00000274030.6	+	15	2467		c.e15-1		USP53_ENST00000450251.1_Splice_Site	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53			27					TTCTTTTACAGCTAAGTTAAG	0.259000																								0							SO:0001630	splice_region_variant			ENST00000274030.6	1	1	hg19	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816201	0.70912	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5008	0.87731	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP53	120410293	1.000000	0.71417	0.716000	0.30569	0.937000	0.57800	7.366000	0.79548	2.567000	0.86603	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	1	0	1	58	241	0	81	0	0	0	1	0	81	2		0	0	0	0	0	2	1	1	58	236	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	p.R577W(1)		27				Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000354960.3	1	1	hg19	CCDS3713.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	18.97	3.734815	0.69189	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.50277	0.75;0.75;0.75	5.06	4.21	0.49690	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.115584	0.64402	D	0.000010	T	0.72961	0.3526	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77991	-0.2379	10	0.72032	D	0.01	.	17.7073	0.88312	0.0:0.0:0.8745:0.1255	.	577;535	O76074;O76074-2	PDE5A_HUMAN;.	W	577;525;535	ENSP00000347046:R577W;ENSP00000377957:R525W;ENSP00000264805:R535W	ENSP00000264805:R535W	R	-	1	2	PDE5A	120666202	1.000000	0.71417	0.991000	0.47740	0.884000	0.51177	8.023000	0.88764	0.543000	0.28864	-0.808000	0.03180	CGG		TCGA-IB-7651-01A-11D-2154-08	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	1	0	1	56	281	0	84	1	9.999939e-01	20	71	0	84	2		0	0	0	0	0	2	1	1	54	277	0	83	2								-20.000000	1	1	121412	5	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE5A	8654	broad.mit.edu	37	4	120463721	120463721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120463721C>T	ENST00000354960.3	-	10	1784	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific			27				Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AGAAACTGTTCGTCATTTCGG	0.438000																								0							SO:0001583	missense			ENST00000354960.3	1	1	hg19	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454552	0.96223	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68624	-0.34;-0.34;-0.34	5.37	5.37	0.77165	GAF (2);	0.050029	0.85682	N	0.000000	D	0.83326	0.5230	M	0.89095	3.005	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.59643	0.529;0.861	D	0.85834	0.1393	10	0.59425	D	0.04	.	19.4801	0.95007	0.0:1.0:0.0:0.0	.	489;447	O76074;O76074-2	PDE5A_HUMAN;.	K	489;437;447	ENSP00000347046:E489K;ENSP00000377957:E437K;ENSP00000264805:E447K	ENSP00000264805:E447K	E	-	1	0	PDE5A	120683169	1.000000	0.71417	0.905000	0.35620	0.991000	0.79684	7.758000	0.85224	2.698000	0.92095	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	1	0	1	22	313	0	80	1	9.253137e-01	7	58	0	80	2		0	0	0	0	0	2	1	9.999984e-01	20	304	0	77	2								-3.221817	1	1	121412	10	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.790000	0.510000	1.000000	1.000000	0.798463	0.790000	0	6.300000e-01	1
PDE5A	8654	broad.mit.edu	37	4	120474867	120474867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120474867C>T	ENST00000354960.3	-	8	1553	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T|PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific			27				Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ACATACTGAGCATACATGTAA	0.343000																								0							SO:0001583	missense			ENST00000354960.3	1	1	hg19	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610356	0.66558	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68331	-0.32;-0.32;-0.32	5.82	5.82	0.92795	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.56340	1.77	0.80722	D	1	B;B	0.26708	0.011;0.157	B;B	0.27380	0.077;0.079	T	0.60677	-0.7216	10	0.36615	T	0.2	.	19.707	0.96076	0.0:1.0:0.0:0.0	.	412;370	O76074;O76074-2	PDE5A_HUMAN;.	T	412;360;370	ENSP00000347046:A412T;ENSP00000377957:A360T;ENSP00000264805:A370T	ENSP00000264805:A370T	A	-	1	0	PDE5A	120694315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.751000	0.94390	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	1	0	1	67	301	0	79	1	9.999592e-01	19	50	0	79	2		0	0	0	0	0	2	1	1	65	294	0	79	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAD2L1	4085	broad.mit.edu	37	4	120981442	120981442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120981442G>A	ENST00000296509.6	-	5	788	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)			9					CAGATCAAATGAACCTAAATT	0.363000																								0							SO:0001583	missense			ENST00000296509.6	0	1	hg19	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821885	0.90873	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	5.13	0.70059	DNA-binding HORMA (4);	0.304482	0.34002	N	0.004354	T	0.75436	0.3849	M	0.77486	2.375	0.58432	D	0.999999	B	0.32800	0.385	B	0.42062	0.374	T	0.77373	-0.2612	9	0.59425	D	0.04	-4.4885	18.9343	0.92579	0.0:0.0:1.0:0.0	.	150	Q13257	MD2L1_HUMAN	L	150	.	ENSP00000296509:S150L	S	-	2	0	MAD2L1	121200890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.265000	0.95647	2.542000	0.85734	0.591000	0.81541	TCA		TCGA-IB-7651-01A-11D-2154-08	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2	1	0	0	10	133	0	25	1	7.808696e-01	4	36	0	25	2		0	0	0	0	0	2	1	9.970008e-01	10	131	0	25	2								-14.480360	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.860000	0.440000	1.000000	1.000000	0.827915	0.860000	1	6.200000e-01	1
PRDM5	11107	broad.mit.edu	37	4	121702388	121702388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702388G>A	ENST00000264808.3	-	12	1593	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	PRDM5_ENST00000428209.2_Silent_p.V420V|PRDM5_ENST00000515109.1_Silent_p.V420V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5			34					GAACCACCTGGACATGAACAT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000264808.3	0	1	hg19	CCDS3716.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	0	0	0	8	302	0	63	0	2.700236e-03	0	3	0	63	2		0	0	0	0	0	2	1	9.893314e-01	8	300	0	61	2								-8.439358	1	0	121386	4	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.320000	0.150000	1.000000	0.300000	0.373214	0.320000	0	2.200000e-01	4.800000e-01
PRDM5	11107	broad.mit.edu	37	4	121702402	121702402	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702402A>G	ENST00000264808.3	-	12	1579	c.1339T>C	c.(1339-1341)Tta>Cta	p.L447L	PRDM5_ENST00000428209.2_Silent_p.L416L|PRDM5_ENST00000515109.1_Silent_p.L416L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5			34					TGAACATTTAATGTATCCTTC	0.398000																								0							SO:0001819	synonymous_variant			ENST00000264808.3	1	1	hg19	CCDS3716.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	1	0	0	45	254	0	60	0	1.702558e-01	0	5	0	60	2		0	0	0	0	0	2	1	1	45	252	0	59	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PRDM5	11107	broad.mit.edu	37	4	121739544	121739544	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121739544C>T	ENST00000264808.3	-	5	854	c.614G>A	c.(613-615)gGg>gAg	p.G205E	PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5			34					GAATTTCTTCCCACAGTTCTT	0.373000																								0							SO:0001583	missense			ENST00000264808.3	1	1	hg19	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876634	0.91664	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.59224	0.28;0.28;0.28	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.39467	1.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.70952	-0.4732	10	0.52906	T	0.07	-30.627	19.0126	0.92879	0.0:1.0:0.0:0.0	.	205;205;205	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	E	205	ENSP00000264808:G205E;ENSP00000422309:G205E;ENSP00000404832:G205E	ENSP00000264808:G205E	G	-	2	0	PRDM5	121958994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.562000	0.60816	2.498000	0.84270	0.555000	0.69702	GGG		TCGA-IB-7651-01A-11D-2154-08	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	1	0	1	46	190	0	40	0	2.584446e-01	0	5	0	40	2		0	0	0	0	0	2	1	1	44	182	0	40	2								-3.099918	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM5	11107	broad.mit.edu	37	4	121774643	121774643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121774643C>T	ENST00000264808.3	-	3	470	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5			34					GTTGGAGTGCCGTGGGTTGGT	0.443000																								0							SO:0001583	missense			ENST00000264808.3	1	1	hg19	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096555	0.94197	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.72	5.72	0.89469	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	N	0.17474	0.49	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.809;0.999	D;D;B;D	0.77557	0.978;0.99;0.252;0.978	T	0.67019	-0.5776	10	0.15499	T	0.54	-4.7371	19.011	0.92872	0.0:1.0:0.0:0.0	.	77;77;77;77	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	Q	77	ENSP00000264808:R77Q;ENSP00000422309:R77Q;ENSP00000404832:R77Q;ENSP00000377955:R77Q	ENSP00000264808:R77Q	R	-	2	0	PRDM5	121994093	1.000000	0.71417	0.900000	0.35374	0.993000	0.82548	5.315000	0.65810	2.857000	0.98124	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2	1	0	1	294	1361	0	352	0	7.005800e-01	0	13	0	352	2		0	0	0	0	0	2	1	1	286	1341	0	350	2								-3.147623	1	1	121412	1	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNIP3	79931	broad.mit.edu	37	4	122075755	122075755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122075755G>A	ENST00000509841.1	-	8	752	c.674C>T	c.(673-675)gCg>gTg	p.A225V	TNIP3_ENST00000454328.1_Missense_Mutation_p.A148V|TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3			24					TTCCTTGTTCGCAAGAGTATT	0.343000																								0							SO:0001583	missense			ENST00000509841.1	1	1	hg19	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.516059	0.00151	0.0	2.33E-4	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.71	-5.17	0.02849	.	1.828580	0.02425	N	0.082965	T	0.28632	0.0709	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18999	-1.0319	10	0.13108	T	0.6	0.2705	6.6311	0.22857	0.5605:0.0:0.2377:0.2018	.	218;148;148	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	V	148;148;218;225	ENSP00000057513:A148V;ENSP00000411817:A148V;ENSP00000427106:A218V;ENSP00000426613:A225V	ENSP00000057513:A148V	A	-	2	0	TNIP3	122295205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.129000	0.10515	-1.090000	0.03069	-2.455000	0.00206	GCG		TCGA-IB-7651-01A-11D-2154-08	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	1	0	1	55	291	0	48	0	1.250458e-01	0	4	0	48	2		0	0	0	0	0	2	1	1	55	282	0	48	2								-3.088324	1	1	121406	4	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNIP3	79931	broad.mit.edu	37	4	122078275	122078275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122078275T>G	ENST00000509841.1	-	7	646	c.568A>C	c.(568-570)Acc>Ccc	p.T190P	TNIP3_ENST00000454328.1_Missense_Mutation_p.T113P|TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3			24					CGGTCCCGGGTCAGGTCGCGC	0.647000																								0							SO:0001583	missense			ENST00000509841.1	1	1	hg19	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698387	0.48307	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	3.79	-7.58	0.01313	.	2.342090	0.01568	N	0.020440	T	0.59390	0.2190	L	0.60455	1.87	0.09310	N	1	B;B;P	0.43094	0.001;0.002;0.799	B;B;P	0.44990	0.002;0.003;0.466	T	0.64343	-0.6430	10	0.72032	D	0.01	10.3068	7.1203	0.25440	0.0:0.3636:0.4254:0.211	.	183;113;113	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	P	113;113;183;190	ENSP00000057513:T113P;ENSP00000411817:T113P;ENSP00000427106:T183P;ENSP00000426613:T190P	ENSP00000057513:T113P	T	-	1	0	TNIP3	122297725	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.672000	0.05244	-1.505000	0.01807	0.397000	0.26171	ACC		TCGA-IB-7651-01A-11D-2154-08	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	0	0	0	70	1619	1	246	0	6.382121e-02	0	10	1	246	2		0	0	0	0	0	2	1	9.999998e-01	69	1604	1	241	23								-5.766448	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.490000	0.380000	1.000000	0.490000	0.523643	0.490000	0	4.300000e-01	5.700000e-01
TNIP3	79931	broad.mit.edu	37	4	122085277	122085277	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122085277C>A	ENST00000509841.1	-	4	313	c.235G>T	c.(235-237)Gca>Tca	p.A79S	TNIP3_ENST00000454328.1_Missense_Mutation_p.A2S|TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3			24					ACAAAATGTGCCATGGAAGCT	0.388000																								0							SO:0001583	missense			ENST00000509841.1	0	1	hg19	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590273	0.66105	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.59364	0.77;0.77;0.28;0.27	4.5	2.71	0.32032	.	0.176081	0.27567	N	0.018781	T	0.51109	0.1655	L	0.57536	1.79	0.09310	N	1	P;P;P	0.46784	0.793;0.884;0.884	B;B;B	0.42738	0.272;0.396;0.256	T	0.49437	-0.8940	10	0.87932	D	0	-4.2012	6.5541	0.22450	0.0:0.7133:0.1842:0.1025	.	72;2;2	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	S	2;2;72;79	ENSP00000057513:A2S;ENSP00000411817:A2S;ENSP00000427106:A72S;ENSP00000426613:A79S	ENSP00000057513:A2S	A	-	1	0	TNIP3	122304727	0.003000	0.15002	0.088000	0.20740	0.334000	0.28698	0.274000	0.18680	0.564000	0.29238	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	0	0	0	8	375	0	75	0	6.024822e-04	0	2	0	75	2		0	0	0	0	0	2	1	9.892014e-01	8	372	0	75	2								-2.645408	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.260000	0.120000	1.000000	0.250000	0.313775	0.260000	0	1.800000e-01	3.900000e-01
EXOSC9	5393	broad.mit.edu	37	4	122732759	122732759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122732759G>A	ENST00000243498.5	+	8	868	c.760G>A	c.(760-762)Gct>Act	p.A254T	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T|EXOSC9_ENST00000512454.1_Missense_Mutation_p.A238T	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9			16					CAGTAAAATCGCTGGTGTGAA	0.308000																								0							SO:0001583	missense			ENST00000243498.5	1	1	hg19	CCDS3722.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.463947|4.463947	0.84425|0.84425	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454|ENST00000511132	T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.046429|.	0.85682|.	D|.	0.000000|.	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	P;D;P|.	0.56746|.	0.939;0.977;0.955|.	B;B;P|.	0.45406|.	0.25;0.35;0.479|.	T|T	0.78723|0.78723	-0.2093|-0.2093	10|5	0.56958|.	D|.	0.05|.	-30.9715|-30.9715	11.4169|11.4169	0.49958|0.49958	0.1138:0.0:0.8862:0.0|0.1138:0.0:0.8862:0.0	.|.	238;254;254|.	D6RIY6;Q06265;Q06265-2|.	.;EXOS9_HUMAN;.|.	T|H	254;254;208;238|89	ENSP00000243498:A254T;ENSP00000368984:A254T;ENSP00000422205:A208T;ENSP00000425782:A238T|.	ENSP00000243498:A254T|.	A|R	+|+	1|2	0|0	EXOSC9|EXOSC9	122952209|122952209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.056000|6.056000	0.71111|0.71111	2.747000|2.747000	0.94245|0.94245	0.655000|0.655000	0.94253|0.94253	GCT|CGC		TCGA-IB-7651-01A-11D-2154-08	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	1	0	1	26	93	0	25	1	1	35	120	0	25	2		0	0	0	0	0	2	1	1	26	90	0	25	2								-18.771410	1	1	121398	1	35	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CCNA2	890	broad.mit.edu	37	4	122740651	122740651	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122740651C>T	ENST00000274026.5	-	5	1181	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2			12					ATGCTCCATTCTCAGAACTTG	0.378000																								0							SO:0001583	missense			ENST00000274026.5	1	1	hg19	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782183	0.70222	.	.	ENSG00000145386	ENST00000274026	T	0.18338	2.22	6.04	6.04	0.98038	Cyclin, N-terminal (1);Cyclin-like (3);	0.045186	0.85682	D	0.000000	T	0.12008	0.0292	N	0.25060	0.705	0.48901	D	0.999726	B	0.16396	0.017	B	0.23852	0.049	T	0.12863	-1.0531	10	0.08837	T	0.75	.	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	293	P20248	CCNA2_HUMAN	K	293	ENSP00000274026:R293K	ENSP00000274026:R293K	R	-	2	0	CCNA2	122960101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.032000	0.70918	2.873000	0.98535	0.561000	0.74099	AGA		TCGA-IB-7651-01A-11D-2154-08	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	1	0	1	40	477	0	104	1	9.287234e-01	10	45	0	104	2		0	0	0	0	0	2	1	1	40	472	0	104	2								-10.385520	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.920000	0.670000	1.000000	1.000000	0.904809	0.920000	1	7.800000e-01	1
CCNA2	890	broad.mit.edu	37	4	122743722	122743722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743722G>A	ENST00000274026.5	-	2	596	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2			12					AATGGTGAACGCAGGCTGTTT	0.418000																								0							SO:0001583	missense			ENST00000274026.5	1	1	hg19	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819230	0.71028	.	.	ENSG00000145386	ENST00000274026	T	0.16743	2.32	5.74	5.74	0.90152	.	0.254375	0.15847	U	0.241726	T	0.18425	0.0442	L	0.49350	1.555	0.37440	D	0.914368	B	0.31752	0.338	B	0.19666	0.026	T	0.09707	-1.0662	10	0.27785	T	0.31	.	18.7072	0.91643	0.0:0.0:1.0:0.0	.	98	P20248	CCNA2_HUMAN	V	98	ENSP00000274026:A98V	ENSP00000274026:A98V	A	-	2	0	CCNA2	122963172	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	4.921000	0.63397	2.715000	0.92844	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	0	0	1	103	433	0	125	1	9.978544e-01	17	24	0	125	2		0	0	0	0	0	2	1	1	103	422	0	125	2								-20.000000	1	0	121412	1	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNA2	890	broad.mit.edu	37	4	122743779	122743779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743779G>T	ENST00000274026.5	-	2	539	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2			12					ATCATTTACAGGAAGATCCTT	0.413000																								0							SO:0001583	missense			ENST00000274026.5	1	1	hg19	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048425	0.55110	.	.	ENSG00000145386	ENST00000274026	T	0.15256	2.44	5.74	3.97	0.46021	.	.	.	.	.	T	0.16342	0.0393	L	0.47716	1.5	0.25614	N	0.986468	B	0.22800	0.075	B	0.21151	0.033	T	0.13737	-1.0498	9	0.59425	D	0.04	.	8.5659	0.33538	0.0798:0.2876:0.6326:0.0	.	79	P20248	CCNA2_HUMAN	H	79	ENSP00000274026:P79H	ENSP00000274026:P79H	P	-	2	0	CCNA2	122963229	0.862000	0.29867	0.990000	0.47175	0.996000	0.88848	1.584000	0.36589	1.392000	0.46585	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	1	0	1	87	396	0	118	1	9.994078e-01	15	37	0	118	2		0	0	0	0	0	2	1	1	86	388	0	116	2								-2.909672	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BBS7	55212	broad.mit.edu	37	4	122782737	122782737	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122782737G>T	ENST00000264499.4	-	4	446	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7			30					TCTAATCTCAGATGCTGCAGC	0.428000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000264499.4	1	1	hg19	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741916	0.89573	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.92099	-2.97;-2.97	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.77103	2.36	0.80722	D	1	D;D	0.62365	0.991;0.98	P;P	0.59643	0.861;0.861	D	0.95737	0.8780	10	0.72032	D	0.01	-14.2789	19.328	0.94270	0.0:0.0:1.0:0.0	.	88;88	Q8IWZ6-2;Q8IWZ6	.;BBS7_HUMAN	Y	88	ENSP00000264499:S88Y;ENSP00000423626:S88Y	ENSP00000264499:S88Y	S	-	2	0	BBS7	123002187	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.443000	0.97568	2.559000	0.86315	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1	1	0	0	19	270	0	56	1	8.034693e-01	3	42	0	56	2		0	0	0	0	0	2	1	9.999909e-01	19	266	0	56	2								-19.999190	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.790000	0.490000	1.000000	1.000000	0.799066	0.790000	0	6.300000e-01	1
KIAA1109	84162	broad.mit.edu	37	4	123130479	123130479	+	Missense_Mutation	SNP	G	G	A	rs72925924	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123130479G>A	ENST00000264501.4	+	18	2291	c.1918G>A	c.(1918-1920)Gtt>Att	p.V640I	KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I			Q2LD37	K1109_HUMAN	KIAA1109			172					ATGGCGCAACGTTACTCAGGA	0.463000																								0							SO:0001583	missense			ENST00000264501.4	1	1	hg19	CCDS43267.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	1.753|1.753	-0.488817|-0.488817	0.04352|0.04352	0.004117|0.004117	0.0|0.0	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.21543	.|2.58;2.58;2.0	4.55|4.55	-1.37|-1.37	0.09056|0.09056	.|.	.|0.432718	.|0.14967	.|N	.|0.288041	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.03324|0.03324	-0.35|-0.35	0.27008|0.27008	N|N	0.964746|0.964746	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.40175|0.40175	-0.9577|-0.9577	5|10	.|0.02654	.|T	.|1	.|.	6.2867|6.2867	0.21037|0.21037	0.44:0.1455:0.4145:0.0|0.44:0.1455:0.4145:0.0	.|.	.|640;640	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	H|I	472|640	.|ENSP00000264501:V640I;ENSP00000373390:V640I;ENSP00000389925:V640I	.|ENSP00000264501:V640I	R|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123349929|123349929	0.997000|0.997000	0.39634|0.39634	0.623000|0.623000	0.29173|0.29173	0.986000|0.986000	0.74619|0.74619	1.381000|1.381000	0.34362|0.34362	-0.330000|-0.330000	0.08514|0.08514	-0.459000|-0.459000	0.05422|0.05422	CGT|GTT		TCGA-IB-7651-01A-11D-2154-08	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	1	0	1	39	168	0	30	0	8.539078e-01	0	17	0	30	2		0	0	0	0	0	2	1	1	37	160	0	30	2								-3.184078	1	1	120866	67	48	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1109	84162	broad.mit.edu	37	4	123249281	123249281	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123249281A>G	ENST00000264501.4	+	66	11391	c.11018A>G	c.(11017-11019)gAc>gGc	p.D3673G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G			Q2LD37	K1109_HUMAN	KIAA1109			172					ACAGAACTGGACCTTTTGTCA	0.318000																								0							SO:0001583	missense			ENST00000264501.4	1	1	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.321035|4.321035	0.81580|0.81580	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.39592|.	2.2;2.2;1.07|.	5.57|5.57	4.37|4.37	0.52481|0.52481	.|.	0.066944|.	0.64402|.	N|.	0.000017|.	T|T	0.35624|0.35624	0.0938|0.0938	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.13594|.	0.008;0.007|.	B;B|.	0.12156|.	0.007;0.005|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.31617|.	T|.	0.26|.	.|.	11.7505|11.7505	0.51845|0.51845	0.9296:0.0:0.0704:0.0|0.9296:0.0:0.0704:0.0	.|.	3672;3673|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	G|A	3673;3673;377|84	ENSP00000264501:D3673G;ENSP00000373390:D3673G;ENSP00000410874:D377G|.	ENSP00000264501:D3673G|.	D|T	+|+	2|1	0|0	KIAA1109|KIAA1109	123468731|123468731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.404000|7.404000	0.79996|0.79996	2.120000|2.120000	0.65058|0.65058	0.383000|0.383000	0.25322|0.25322	GAC|ACC		TCGA-IB-7651-01A-11D-2154-08	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	0	0	1	19	159	1	34	0	3.784161e-01	2	51	1	34	7		0	0	0	0	0	2	1	7.448878e-01	19	157	1	34	16								-9.476609	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.984654	0.990000	1	9.900000e-01	1
KIAA1109	84162	broad.mit.edu	37	4	123258035	123258035	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258035G>A	ENST00000264501.4	+	71	12383		c.e71-1		KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109			172					ATTTTAAACAGCTGTCAGCTC	0.323000																								0							SO:0001630	splice_region_variant			ENST00000264501.4	1	1	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741598	0.69304	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000306802	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4524	0.61178	0.0754:0.0:0.9246:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1109	123477485	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.411000	0.80078	2.530000	0.85305	0.467000	0.42956	.		TCGA-IB-7651-01A-11D-2154-08	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	1	0	1	55	219	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	55	215	0	46	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1109	84162	broad.mit.edu	37	4	123258084	123258084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258084C>A	ENST00000264501.4	+	71	12432	c.12059C>A	c.(12058-12060)cCt>cAt	p.P4020H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H			Q2LD37	K1109_HUMAN	KIAA1109			172					ATACCAGATCCTATGGAAGAA	0.358000																								0							SO:0001583	missense			ENST00000264501.4	1	1	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.601491|2.601491	0.46423|0.46423	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30981	.|2.52;2.52;1.51	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.222299	.|0.39020	.|N	.|0.001488	T|T	0.37320|0.37320	0.0999|0.0999	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46656	.|0.882;0.813	.|P;P	.|0.51615	.|0.675;0.476	T|T	0.02232|0.02232	-1.1191|-1.1191	5|10	.|0.27785	.|T	.|0.31	.|.	15.538|15.538	0.76018|0.76018	0.1385:0.8615:0.0:0.0|0.1385:0.8615:0.0:0.0	.|.	.|4019;4020	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	I|H	396|4020;4020;689	.|ENSP00000264501:P4020H;ENSP00000373390:P4020H;ENSP00000410874:P689H	.|ENSP00000264501:P4020H	L|P	+|+	1|2	2|0	KIAA1109|KIAA1109	123477534|123477534	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.864000|3.864000	0.56024|0.56024	2.530000|2.530000	0.85305|0.85305	0.467000|0.467000	0.42956|0.42956	CTA|CCT		TCGA-IB-7651-01A-11D-2154-08	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	1	0	0	32	320	0	69	1	9.873292e-01	6	65	0	69	2		0	0	0	0	0	2	1	1	31	305	0	69	2								-2.841672	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.760000	1.000000	1.000000	0.967558	0.990000	1	9.100000e-01	1
KIAA1109	84162	broad.mit.edu	37	4	123274089	123274089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123274089C>T	ENST00000264501.4	+	81	14253	c.13880C>T	c.(13879-13881)cCt>cTt	p.P4627L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L			Q2LD37	K1109_HUMAN	KIAA1109			172					CGACACTGGCCTGGAGTATTG	0.433000																								0							SO:0001583	missense			ENST00000264501.4	1	1	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610370	0.87258	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.43294	0.95;0.95;0.95	5.98	5.98	0.97165	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54957	-0.8215	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	4626;4627	Q2LD37-4;Q2LD37	.;K1109_HUMAN	L	4627;4627;1296;228	ENSP00000264501:P4627L;ENSP00000373390:P4627L;ENSP00000410874:P1296L	ENSP00000264501:P4627L	P	+	2	0	KIAA1109	123493539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	0	0	1	95	413	0	117	1	1	23	89	0	117	2		0	0	0	0	0	2	1	1	89	404	0	115	2								-3.440474	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1109	84162	broad.mit.edu	37	4	123277838	123277838	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123277838G>A	ENST00000264501.4	+	84	14936	c.14563G>A	c.(14563-14565)Gtg>Atg	p.V4855M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M			Q2LD37	K1109_HUMAN	KIAA1109			172					CCACATTTGTGTGACTATGGA	0.358000																								0							SO:0001583	missense			ENST00000264501.4	1	1	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379860	0.95945	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.57436	0.4;0.4;0.4	5.9	5.9	0.94986	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.74951	-0.3489	10	0.87932	D	0	.	20.2861	0.98535	0.0:0.0:1.0:0.0	.	4854;4855	Q2LD37-4;Q2LD37	.;K1109_HUMAN	M	4855;4855;1524;456	ENSP00000264501:V4855M;ENSP00000373390:V4855M;ENSP00000410874:V1524M	ENSP00000264501:V4855M	V	+	1	0	KIAA1109	123497288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.800000	0.96347	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	1	0	1	66	328	0	92	1	9.999624e-01	5	71	0	92	2		0	0	0	0	0	2	1	1	66	323	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAD1	132612	broad.mit.edu	37	4	123302264	123302264	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123302264C>T	ENST00000296513.2	+	4	475	c.290C>T	c.(289-291)cCt>cTt	p.P97L	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L|ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)			35					GAGATAAATCCTGTGTCAGCC	0.368000																								0							SO:0001583	missense			ENST00000296513.2	1	1	hg19	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278034	0.80692	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.23	4.37	0.52481	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.058440	0.64402	D	0.000001	D	0.88897	0.6562	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	D	0.90180	0.4242	10	0.87932	D	0	-17.469	13.1832	0.59666	0.0:0.9193:0.0:0.0807	.	97;97	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	97;97;97;97;79	ENSP00000390510:P97L;ENSP00000296513:P97L;ENSP00000397254:P97L;ENSP00000373376:P97L;ENSP00000373377:P79L	ENSP00000296513:P97L	P	+	2	0	ADAD1	123521714	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.958000	0.76025	2.423000	0.82170	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	1	0	1	82	444	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	82	439	0	114	2								-2.923146	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAD1	132612	broad.mit.edu	37	4	123342523	123342523	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123342523C>T	ENST00000296513.2	+	12	1780	c.1595C>T	c.(1594-1596)gCt>gTt	p.A532V	ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V|ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)			35					TTACTTGAAGCTGGTACATAT	0.338000																								0							SO:0001583	missense			ENST00000296513.2	0	1	hg19	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	2.396	-0.338793	0.05243	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93547	-3.24;-3.24;-3.24	4.93	3.15	0.36227	Adenosine deaminase/editase (3);	0.353444	0.30859	N	0.008732	D	0.84620	0.5512	N	0.25485	0.75	0.28122	N	0.930573	B;B	0.25667	0.009;0.131	B;B	0.26310	0.022;0.068	T	0.69982	-0.4997	10	0.13853	T	0.58	-11.4565	5.6847	0.17797	0.1681:0.6553:0.0:0.1766	.	521;532	Q96M93-2;Q96M93	.;ADAD1_HUMAN	V	532;521;514	ENSP00000296513:A532V;ENSP00000373376:A521V;ENSP00000373377:A514V	ENSP00000296513:A532V	A	+	2	0	ADAD1	123561973	0.563000	0.26594	0.999000	0.59377	0.982000	0.71751	1.029000	0.30140	2.277000	0.76020	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	1	0	0	15	180	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.998879e-01	15	179	0	22	2								-19.664770	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.930000	0.540000	1.000000	1.000000	0.882106	0.930000	1	7.100000e-01	1
IL21	59067	broad.mit.edu	37	4	123542063	123542063	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123542063T>C	ENST00000264497.3	-	1	161	c.104A>G	c.(103-105)cAc>cGc	p.H35R	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21			8					TCTAATCATGTGGCGATCTTG	0.398000																								0							SO:0001583	missense			ENST00000264497.3	1	1	hg19	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292013	0.23564	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.63	-1.7	0.08159	.	1.503550	0.03896	N	0.279500	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13072	-1.0523	9	0.23302	T	0.38	0.9318	1.9273	0.03319	0.3357:0.2071:0.0705:0.3867	.	28;28	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	R	35	.	ENSP00000264497:H35R	H	-	2	0	IL21	123761513	0.008000	0.16893	0.794000	0.32065	0.895000	0.52256	0.074000	0.14662	0.048000	0.15891	-0.339000	0.08088	CAC		TCGA-IB-7651-01A-11D-2154-08	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	0	0	0	10	361	0	89	0	0	0	1	0	89	2		0	0	0	0	0	2	1	9.968050e-01	10	357	0	89	2								-3.472806	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.330000	0.160000	1.000000	0.320000	0.381127	0.330000	0	2.400000e-01	4.700000e-01
BBS12	166379	broad.mit.edu	37	4	123663084	123663084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123663084C>A	ENST00000314218.3	+	2	230	c.37C>A	c.(37-39)Cac>Aac	p.H13N	BBS12_ENST00000542236.1_Missense_Mutation_p.H13N	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12			21					CAAAAGAAGACACATGGGACT	0.333000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000314218.3	1	1	hg19	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262943	0.80358	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.69040	-0.37;-0.37;-0.37	4.9	4.9	0.64082	.	0.056728	0.64402	D	0.000002	T	0.80486	0.4632	M	0.66939	2.045	0.48341	D	0.999632	D	0.89917	1.0	D	0.69307	0.963	T	0.82733	-0.0311	10	0.72032	D	0.01	-2.5257	18.47	0.90769	0.0:1.0:0.0:0.0	.	13	Q6ZW61	BBS12_HUMAN	N	13	ENSP00000319062:H13N;ENSP00000438273:H13N;ENSP00000398912:H13N	ENSP00000319062:H13N	H	+	1	0	BBS12	123882534	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.137000	0.64789	2.430000	0.82344	0.585000	0.79938	CAC		TCGA-IB-7651-01A-11D-2154-08	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	1	0	1	57	251	0	75	1	9.394110e-01	5	18	0	75	2		0	0	0	0	0	2	1	1	57	250	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BBS12	166379	broad.mit.edu	37	4	123664001	123664001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664001C>T	ENST00000314218.3	+	2	1147	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BBS12_ENST00000542236.1_Silent_p.C318C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12			21					TTTTCACTTGCTGTCTACCAG	0.378000									Bardet-Biedl syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000314218.3	1	1	hg19	CCDS3728.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	0	0	1	27	140	0	35	1	9.315453e-01	7	19	0	35	2		0	0	0	0	0	2	1	1	27	138	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
BBS12	166379	broad.mit.edu	37	4	123664988	123664988	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664988T>G	ENST00000314218.3	+	2	2134	c.1941T>G	c.(1939-1941)atT>atG	p.I647M	BBS12_ENST00000542236.1_Missense_Mutation_p.I647M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12			21					ATAGTAGAATTTTTAATTCAG	0.378000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000314218.3	0	1	hg19	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731093	0.30684	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.70282	-0.47;-0.47	5.63	3.0	0.34707	.	1.298120	0.05026	N	0.473681	T	0.70369	0.3216	L	0.60455	1.87	0.25110	N	0.990721	B	0.19445	0.036	B	0.22152	0.038	T	0.56697	-0.7936	10	0.37606	T	0.19	-30.0686	12.6001	0.56492	0.0:0.0:0.3882:0.6118	.	647	Q6ZW61	BBS12_HUMAN	M	647	ENSP00000319062:I647M;ENSP00000438273:I647M	ENSP00000319062:I647M	I	+	3	3	BBS12	123884438	0.635000	0.27199	0.825000	0.32803	0.174000	0.22865	0.292000	0.19011	0.934000	0.37316	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	0	0	0	6	260	0	53	0	1.003398e-01	0	20	0	53	2		0	0	0	0	0	2	1	9.642206e-01	6	257	0	52	2								-7.778812	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.290000	0.110000	1.000000	0.260000	0.342476	0.290000	0	1.900000e-01	4.500000e-01
SPATA5	166378	broad.mit.edu	37	4	123848884	123848884	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123848884T>C	ENST00000274008.4	+	2	328	c.259T>C	c.(259-261)Ttg>Ctg	p.L87L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5			24					TCGACCAGTGTTGCTTACTAG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000274008.4	1	1	hg19	CCDS3730.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	0	0	0	16	480	0	92	0	2.961309e-02	0	8	0	92	2		0	0	0	0	0	2	1	9.999220e-01	16	468	0	92	2								-3.453851	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.390000	0.230000	1.000000	0.370000	0.433602	0.390000	0	3.000000e-01	5.200000e-01
SPATA5	166378	broad.mit.edu	37	4	123855775	123855775	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123855775G>T	ENST00000274008.4	+	5	1098	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5			24					ATTCAAAAGAGCAAGACAACC	0.328000																								0							SO:0001583	missense			ENST00000274008.4	1	1	hg19	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	8.890	0.953680	0.18431	.	.	ENSG00000145375	ENST00000274008	D	0.94650	-3.48	4.87	-3.9	0.04181	.	0.467168	0.23496	N	0.047549	D	0.83963	0.5368	L	0.28400	0.85	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71213	-0.4659	10	0.20519	T	0.43	-7.0171	0.6953	0.00898	0.3374:0.277:0.1866:0.1991	.	343;343	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	D	343	ENSP00000274008:E343D	ENSP00000274008:E343D	E	+	3	2	SPATA5	124075225	0.842000	0.29525	0.004000	0.12327	0.944000	0.59088	0.034000	0.13776	-1.054000	0.03214	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	1	0	1	54	209	0	43	1	6.918728e-01	2	9	0	43	2		0	0	0	0	0	2	1	1	52	205	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPATA5	166378	broad.mit.edu	37	4	124177183	124177183	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177183C>T	ENST00000274008.4	+	15	2422	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5			24					TTTGATGCGGCCTGGAAGAAT	0.408000																								0							SO:0001583	missense			ENST00000274008.4	1	1	hg19	CCDS3730.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	19.26	3.794047	0.70452	.	.	ENSG00000145375	ENST00000274008	D	0.95588	-3.75	4.57	4.57	0.56435	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000003	D	0.96824	0.8963	L	0.55103	1.725	0.58432	D	0.999995	D	0.62365	0.991	D	0.70935	0.971	D	0.97492	1.0054	10	0.72032	D	0.01	-19.9527	17.5624	0.87910	0.0:1.0:0.0:0.0	.	785	Q8NB90	SPAT5_HUMAN	S	785	ENSP00000274008:P785S	ENSP00000274008:P785S	P	+	1	0	SPATA5	124396633	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.535000	0.73838	2.369000	0.80426	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	1	0	1	43	284	0	50	1	6.446517e-01	3	12	0	50	2		0	0	0	0	0	2	1	1	43	275	0	50	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999903	0.990000	1	9.900000e-01	1
SPATA5	166378	broad.mit.edu	37	4	124177323	124177323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177323C>A	ENST00000274008.4	+	15	2562	c.2493C>A	c.(2491-2493)taC>taA	p.Y831*		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5			24					CCGACGCATACTCAGGAGCAG	0.448000																								0							SO:0001587	stop_gained			ENST00000274008.4	0	1	hg19	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.648096	0.96714	.	.	ENSG00000145375	ENST00000274008	.	.	.	4.7	0.182	0.15077	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.753	9.981	0.41813	0.0:0.4256:0.0:0.5744	.	.	.	.	X	831	.	ENSP00000274008:Y831X	Y	+	3	2	SPATA5	124396773	0.872000	0.30054	0.972000	0.41901	0.401000	0.30781	-0.155000	0.10115	0.070000	0.16634	0.557000	0.71058	TAC		TCGA-IB-7651-01A-11D-2154-08	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	0	0	1	73	335	1	63	1	7.206213e-01	8	12	1	63	3		0	0	0	0	0	2	1	1	71	331	1	63	20								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD50	57182	broad.mit.edu	37	4	125590747	125590747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125590747G>A	ENST00000504087.1	-	4	4722	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50			55					ATTGACTGTCGACTTCTACTG	0.413000																								0							SO:0001587	stop_gained			ENST00000504087.1	0	1	hg19	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	49	15.225748	0.99827	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.36	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0537	0.58967	0.0:0.0:0.609:0.391	.	.	.	.	X	1229;1050	.	ENSP00000425658:R1229X	R	-	1	2	ANKRD50	125810197	1.000000	0.71417	0.961000	0.40146	0.955000	0.61496	2.587000	0.46128	1.436000	0.47453	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	1	0	1	226	964	0	254	1	9.999792e-01	10	56	0	254	2		0	0	0	0	0	2	1	1	223	945	0	249	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD50	57182	broad.mit.edu	37	4	125592066	125592066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125592066G>A	ENST00000504087.1	-	4	3403	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50			55					ACCCATAGACGCTGCTGCTAA	0.458000																								0							SO:0001583	missense			ENST00000504087.1	1	1	hg19	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184636	0.57909	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.63417	-0.04;-0.04	4.99	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.46819	1.47	0.80722	D	1	D	0.59767	0.986	P	0.57009	0.811	T	0.72367	-0.4315	10	0.56958	D	0.05	.	18.4729	0.90781	0.0:0.0:1.0:0.0	.	789	Q9ULJ7	ANR50_HUMAN	V	789;610	ENSP00000425658:A789V;ENSP00000425355:A610V	ENSP00000425658:A789V	A	-	2	0	ANKRD50	125811516	1.000000	0.71417	0.916000	0.36221	0.746000	0.42486	9.060000	0.93907	2.606000	0.88127	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	1	0	1	91	381	0	100	1	9.992702e-01	8	39	0	100	2		0	0	0	0	0	2	1	1	90	375	0	100	2								-20.000000	1	1	121406	2	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD50	57182	broad.mit.edu	37	4	125599995	125599995	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125599995G>T	ENST00000504087.1	-	3	1615	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50			55					TTCATCAACAGAATCAACAAG	0.438000																								0							SO:0001583	missense			ENST00000504087.1	1	1	hg19	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736369	0.69189	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.71934	1.83;-0.61	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83473	0.0060	10	0.87932	D	0	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	193	Q9ULJ7	ANR50_HUMAN	Y	193;14	ENSP00000425658:S193Y;ENSP00000425355:S14Y	ENSP00000425658:S193Y	S	-	2	0	ANKRD50	125819445	1.000000	0.71417	0.882000	0.34594	0.152000	0.21847	8.836000	0.92105	2.761000	0.94854	0.585000	0.79938	TCT		TCGA-IB-7651-01A-11D-2154-08	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	1	0	1	148	601	0	145	1	9.972377e-01	4	34	0	145	2		0	0	0	0	0	2	1	1	147	588	0	144	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126238257	126238257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126238257C>T	ENST00000394329.3	+	1	704	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					GCCTAAGCGGCGGGGCTACCT	0.597000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019790	0.35606	.	.	ENSG00000196159	ENST00000394329	T	0.53206	0.63	5.13	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.32430	U	0.006116	T	0.54743	0.1877	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.51325	-0.8720	10	0.37606	T	0.19	.	9.1011	0.36669	0.0:0.7744:0.1487:0.0769	.	231	Q6V0I7	FAT4_HUMAN	W	231	ENSP00000377862:R231W	ENSP00000377862:R231W	R	+	1	2	FAT4	126457707	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.299000	0.43611	1.102000	0.41551	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	46	165	0	41	1	5.521859e-01	2	6	0	41	2		0	0	0	0	0	2	1	1	45	160	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126239005	126239005	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239005A>G	ENST00000394329.3	+	1	1452	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					CAGCAAGTGTACAGAGTGAAC	0.542000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511323	0.44660	.	.	ENSG00000196159	ENST00000394329	T	0.57595	0.39	4.66	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.000000	0.31859	U	0.006954	T	0.79034	0.4378	H	0.97465	4.01	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80407	-0.1395	10	0.87932	D	0	.	7.4765	0.27378	0.8343:0.0:0.1657:0.0	.	480	Q6V0I7	FAT4_HUMAN	C	480	ENSP00000377862:Y480C	ENSP00000377862:Y480C	Y	+	2	0	FAT4	126458455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.147000	0.58078	0.831000	0.34780	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	35	153	0	40	0	1.665146e-01	1	3	0	40	2		0	0	0	0	0	2	1	1	35	149	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126239656	126239656	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239656A>G	ENST00000394329.3	+	1	2103	c.2090A>G	c.(2089-2091)cAc>cGc	p.H697R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					TACTTTGCTCACATTAAGGAG	0.478000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	8.298	0.819281	0.16607	.	.	ENSG00000196159	ENST00000394329	T	0.01685	4.69	5.28	2.88	0.33553	Cadherin (3);Cadherin-like (1);	0.000000	0.35436	U	0.003202	T	0.01387	0.0045	N	0.14661	0.345	0.80722	D	1	B	0.23490	0.086	B	0.29077	0.098	T	0.60762	-0.7199	10	0.21540	T	0.41	.	9.1287	0.36833	0.8521:0.0:0.1479:0.0	.	697	Q6V0I7	FAT4_HUMAN	R	697	ENSP00000377862:H697R	ENSP00000377862:H697R	H	+	2	0	FAT4	126459106	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	4.443000	0.59994	0.844000	0.35094	0.533000	0.62120	CAC		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	85	351	0	92	0	5.507129e-01	1	8	0	92	2		0	0	0	0	0	2	1	1	83	339	0	91	2								-20.000000	1	1	120922	1	33	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126240358	126240358	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240358G>T	ENST00000394329.3	+	1	2805	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					GTACTCTATAGTCTGAAGCAA	0.473000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595127	0.46318	.	.	ENSG00000196159	ENST00000394329	T	0.02656	4.21	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.40554	U	0.001073	T	0.17066	0.0410	M	0.81341	2.54	0.80722	D	1	P	0.48230	0.907	D	0.65684	0.937	T	0.00143	-1.1996	10	0.37606	T	0.19	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	931	Q6V0I7	FAT4_HUMAN	I	931	ENSP00000377862:S931I	ENSP00000377862:S931I	S	+	2	0	FAT4	126459808	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.682000	0.84083	2.652000	0.90054	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	45	191	0	45	1	6.492715e-01	5	6	0	45	2		0	0	0	0	0	2	1	1	43	183	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126240893	126240893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240893C>T	ENST00000394329.3	+	1	3340	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					CATTTTACTTCGAAGAAGAGC	0.393000																								0							SO:0001819	synonymous_variant			ENST00000394329.3	1	1	hg19	CCDS3732.3																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	189	760	0	179	1	7.638282e-01	4	9	0	179	2		0	0	0	0	0	2	1	1	188	750	0	179	2								-20.000000	1	1	120812	1	37	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126241875	126241875	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126241875A>G	ENST00000394329.3	+	1	4322	c.4309A>G	c.(4309-4311)Aca>Gca	p.T1437A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					TCCCATCGGTACATCTGTCAT	0.418000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504709	0.26949	.	.	ENSG00000196159	ENST00000394329	T	0.57107	0.42	4.87	3.65	0.41850	Cadherin (3);Cadherin-like (1);	0.297436	0.18242	U	0.147212	T	0.45955	0.1368	M	0.63428	1.95	0.58432	D	0.999995	B	0.06786	0.001	B	0.12156	0.007	T	0.28235	-1.0050	10	0.10902	T	0.67	.	10.863	0.46837	0.8588:0.0:0.0:0.1412	.	1437	Q6V0I7	FAT4_HUMAN	A	1437	ENSP00000377862:T1437A	ENSP00000377862:T1437A	T	+	1	0	FAT4	126461325	0.998000	0.40836	0.034000	0.17996	0.930000	0.56654	5.721000	0.68477	0.850000	0.35239	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	0	60	696	0	146	1	3.117745e-01	2	12	0	146	2		0	0	0	0	0	2	1	1	59	684	0	146	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.940000	0.720000	1.000000	1.000000	0.925738	0.940000	1	8.300000e-01	1
FAT4	79633	broad.mit.edu	37	4	126242165	126242165	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242165C>T	ENST00000394329.3	+	1	4612	c.4599C>T	c.(4597-4599)aaC>aaT	p.N1533N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					TATCACAAAACGCCCTTGCTG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000394329.3	1	1	hg19	CCDS3732.3																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	0	169	754	0	175	1	6.739578e-01	3	9	0	175	2		0	0	0	0	0	2	1	1	165	743	0	175	2								-20.000000	1	0	120906	7	45	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126242264	126242264	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242264G>T	ENST00000394329.3	+	1	4711	c.4698G>T	c.(4696-4698)gaG>gaT	p.E1566D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					TAGAGTATGAGATCATCAATG	0.473000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148265	0.57151	.	.	ENSG00000196159	ENST00000394329	T	0.52526	0.66	4.35	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.000000	0.34411	U	0.003993	T	0.56046	0.1959	L	0.45422	1.42	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.47787	-0.9090	10	0.23891	T	0.37	.	10.7952	0.46455	0.1381:0.0:0.8619:0.0	.	1566	Q6V0I7	FAT4_HUMAN	D	1566	ENSP00000377862:E1566D	ENSP00000377862:E1566D	E	+	3	2	FAT4	126461714	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.768000	0.26590	2.420000	0.82092	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	151	669	0	143	1	7.202870e-01	2	11	0	143	2		0	0	0	0	0	2	1	1	146	654	0	141	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126242553	126242553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242553G>A	ENST00000394329.3	+	1	5000	c.4987G>A	c.(4987-4989)Gtg>Atg	p.V1663M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					TGAGGCCCCAGTGGAGTATTA	0.418000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212870	0.58452	.	.	ENSG00000196159	ENST00000394329	T	0.43294	0.95	4.34	4.34	0.51931	Cadherin (3);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.62171	0.2406	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.68205	-0.5470	10	0.72032	D	0.01	.	17.0734	0.86580	0.0:0.0:1.0:0.0	.	1663	Q6V0I7	FAT4_HUMAN	M	1663	ENSP00000377862:V1663M	ENSP00000377862:V1663M	V	+	1	0	FAT4	126462003	1.000000	0.71417	0.892000	0.35008	0.406000	0.30931	9.392000	0.97252	2.263000	0.75096	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	120	504	0	108	1	9.028389e-01	6	13	0	108	2		0	0	0	0	0	2	1	1	116	495	0	108	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126336699	126336699	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336699T>C	ENST00000394329.3	+	5	6594	c.6581T>C	c.(6580-6582)gTt>gCt	p.V2194A	FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					TATGGCATTGTTAATGGTAAT	0.418000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	3.713	-0.059170	0.07317	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51574	0.7;0.7	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.260892	0.18847	U	0.129510	T	0.39784	0.1091	L	0.35793	1.09	0.09310	N	1	B;B	0.19935	0.022;0.04	B;B	0.27262	0.026;0.078	T	0.23440	-1.0188	10	0.09843	T	0.71	.	15.8	0.78447	0.0:0.0:0.0:1.0	.	492;2194	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	A	2194;492	ENSP00000377862:V2194A;ENSP00000335169:V492A	ENSP00000335169:V492A	V	+	2	0	FAT4	126556149	0.542000	0.26426	0.005000	0.12908	0.057000	0.15508	4.622000	0.61240	2.135000	0.66039	0.455000	0.32223	GTT		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	126	492	0	145	0	8.107328e-01	1	13	0	145	2		0	0	0	0	0	2	1	1	122	486	0	145	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126336858	126336858	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336858T>C	ENST00000394329.3	+	5	6753	c.6740T>C	c.(6739-6741)aTt>aCt	p.I2247T	FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					ACGGTCAGCATTGTTCTACTG	0.423000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228321	0.39399	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61040	0.14;0.14	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.000000	0.34725	U	0.003733	D	0.84019	0.5380	H	0.96604	3.85	0.58432	D	0.999993	D;D	0.89917	0.997;1.0	D;D	0.91635	0.992;0.999	D	0.89618	0.3846	10	0.87932	D	0	.	15.5516	0.76158	0.0:0.0:0.0:1.0	.	545;2247	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2247;545	ENSP00000377862:I2247T;ENSP00000335169:I545T	ENSP00000335169:I545T	I	+	2	0	FAT4	126556308	1.000000	0.71417	0.041000	0.18516	0.002000	0.02628	7.880000	0.87243	2.075000	0.62263	0.460000	0.39030	ATT		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	79	298	0	82	1	8.759026e-01	6	10	0	82	2		0	0	0	0	0	2	1	1	77	292	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126369632	126369632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126369632G>A	ENST00000394329.3	+	9	7474	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_ENST00000335110.5_Silent_p.A785A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					TTGTCTTTGCGGTTACAGTCA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000394329.3	1	1	hg19	CCDS3732.3																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	79	462	0	109	1	7.333652e-01	5	12	0	109	2		0	0	0	0	0	2	1	1	78	452	0	109	2								-2.879748	1	1	121410	1	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126371043	126371043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371043C>T	ENST00000394329.3	+	9	8885	c.8872C>T	c.(8872-8874)Cga>Tga	p.R2958*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					ATCTTCAGATCGAGGTAAACC	0.333000																								0							SO:0001587	stop_gained			ENST00000394329.3	0	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	50	16.322416	0.99860	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.34	4.49	0.54785	.	0.000000	0.30311	U	0.009916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.4453	0.61138	0.2856:0.7144:0.0:0.0	.	.	.	.	X	2958;1256	.	ENSP00000335169:R1256X	R	+	1	2	FAT4	126590493	0.993000	0.37304	0.947000	0.38551	0.929000	0.56500	0.941000	0.29005	1.377000	0.46286	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	56	286	0	61	1	7.917954e-01	2	15	0	61	2		0	0	0	0	0	2	1	1	54	284	0	61	2								-3.039406	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT4	79633	broad.mit.edu	37	4	126371527	126371527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371527C>T	ENST00000394329.3	+	9	9369	c.9356C>T	c.(9355-9357)gCg>gTg	p.A3119V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1417V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					AGAGATGCAGCGATGAATGGC	0.413000																								0							SO:0001583	missense			ENST00000394329.3	0	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303988	0.40795	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.53423	0.62;0.62	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	U	0.004240	T	0.60715	0.2290	L	0.56199	1.76	0.47065	D	0.999304	P;D;D	0.69078	0.948;0.992;0.997	B;P;P	0.55345	0.301;0.689;0.774	T	0.63065	-0.6720	10	0.87932	D	0	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1417;3119;3119	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3119;1417	ENSP00000377862:A3119V;ENSP00000335169:A1417V	ENSP00000335169:A1417V	A	+	2	0	FAT4	126590977	0.997000	0.39634	0.173000	0.22940	0.068000	0.16541	4.202000	0.58446	2.652000	0.90054	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	0	29	309	1	65	0	3.527214e-01	0	14	1	65	2		0	0	0	0	0	2	1	9.739968e-01	29	305	1	65	17								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.946389	0.990000	1	8.500000e-01	1
FAT4	79633	broad.mit.edu	37	4	126412394	126412394	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412394G>A	ENST00000394329.3	+	17	14430	c.14417G>A	c.(14416-14418)tGc>tAc	p.C4806Y	FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					CCAAGTATCTGCAGTGCAGAC	0.522000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478360	0.44044	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75589	-0.75;-0.95	4.87	4.87	0.63330	.	0.000000	0.37761	U	0.001958	D	0.83138	0.5189	L	0.57536	1.79	0.53005	D	0.999967	D;D;D	0.69078	0.997;0.995;0.997	D;P;D	0.66497	0.944;0.88;0.944	D	0.84756	0.0759	10	0.59425	D	0.04	.	17.0284	0.86454	0.0:0.0:1.0:0.0	.	3047;4806;4805	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Y	4806;3047	ENSP00000377862:C4806Y;ENSP00000335169:C3047Y	ENSP00000335169:C3047Y	C	+	2	0	FAT4	126631844	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.135000	0.77276	2.253000	0.74438	0.491000	0.48974	TGC		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	26	376	0	84	1	8.471726e-01	8	43	0	84	2		0	0	0	0	0	2	1	9.999999e-01	26	367	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.770000	0.510000	1.000000	1.000000	0.788397	0.770000	0	6.300000e-01	9.600000e-01
FAT4	79633	broad.mit.edu	37	4	126412738	126412738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412738C>A	ENST00000394329.3	+	17	14774	c.14761C>A	c.(14761-14763)Cta>Ata	p.L4921I	FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					GCCCATGAAGCTAGGGCAGCA	0.557000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375834	0.24857	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75704	-0.79;-0.96	4.67	4.67	0.58626	.	0.000000	0.29508	U	0.011943	T	0.80660	0.4665	L	0.51422	1.61	0.53688	D	0.999976	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.60789	0.879;0.76;0.879	T	0.79398	-0.1820	10	0.36615	T	0.2	.	16.7563	0.85499	0.0:1.0:0.0:0.0	.	3162;4921;4920	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	4921;3162	ENSP00000377862:L4921I;ENSP00000335169:L3162I	ENSP00000335169:L3162I	L	+	1	2	FAT4	126632188	1.000000	0.71417	0.975000	0.42487	0.123000	0.20343	4.446000	0.60014	2.425000	0.82216	0.491000	0.48974	CTA		TCGA-IB-7651-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1	58	228	0	67	1	9.943378e-01	8	26	0	67	2		0	0	0	0	0	2	1	1	58	224	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTU	27152	broad.mit.edu	37	4	128625399	128625399	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128625399A>G	ENST00000335251.6	+	10	1623	c.1520A>G	c.(1519-1521)gAc>gGc	p.D507G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein			43					GATTACTATGACATGAGGCGG	0.313000																								0							SO:0001583	missense			ENST00000335251.6	1	1	hg19	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890620	0.33348	.	.	ENSG00000164066	ENST00000335251	T	0.32515	1.45	5.14	5.14	0.70334	.	0.166700	0.52532	D	0.000064	T	0.22627	0.0546	N	0.21142	0.635	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.03483	-1.1032	10	0.31617	T	0.26	-15.4633	14.7898	0.69830	1.0:0.0:0.0:0.0	.	507	Q9ULD6	PDZD6_HUMAN	G	507	ENSP00000334003:D507G	ENSP00000334003:D507G	D	+	2	0	INTU	128844849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.459000	0.60102	2.158000	0.67659	0.454000	0.30748	GAC		TCGA-IB-7651-01A-11D-2154-08	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	1	0	1	107	371	0	72	0	5.634431e-01	0	8	0	72	2		0	0	0	0	0	2	1	1	105	362	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTU	27152	broad.mit.edu	37	4	128632105	128632105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128632105G>T	ENST00000335251.6	+	14	2510	c.2407G>T	c.(2407-2409)Gtt>Ttt	p.V803F		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein			43					TTTCCACTACGTTGCCTTAGA	0.353000																								0							SO:0001583	missense			ENST00000335251.6	1	1	hg19	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338805	0.60963	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.54	4.68	0.58851	.	0.147144	0.45606	D	0.000357	T	0.68805	0.3041	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	T	0.71388	-0.4608	9	0.72032	D	0.01	-11.6227	4.8369	0.13469	0.0767:0.3001:0.4844:0.1389	.	803	Q9ULD6	PDZD6_HUMAN	F	803	.	ENSP00000334003:V803F	V	+	1	0	INTU	128851555	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	2.508000	0.45450	1.534000	0.49203	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	1	0	1	83	279	0	48	1	7.979482e-01	2	10	0	48	2		0	0	0	0	0	2	1	1	83	266	0	48	2								-4.249912	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A31	83447	broad.mit.edu	37	4	128688339	128688339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128688339C>T	ENST00000281154.4	+	4	765	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31			22					TCATTGTGTACCGAGCCTCTT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000281154.4	1	1	hg19	CCDS3733.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	1	0	0	133	705	0	141		0	0	0	0	141	2		0	0	0	0	0	2	1	1	131	695	0	140	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA4L	22824	broad.mit.edu	37	4	128715243	128715243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128715243C>T	ENST00000296464.4	+	2	530	c.119C>T	c.(118-120)tCa>tTa	p.S40L	HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L|HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like			31					GCCTGTATATCATTGGGATCA	0.328000																								0							SO:0001583	missense			ENST00000296464.4	1	1	hg19	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558041	0.86231	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01599	5.34;5.34;5.34;4.74;5.34	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	M	0.89095	3.005	0.80722	D	1	B;B;B	0.34147	0.438;0.124;0.124	B;B;B	0.41946	0.371;0.068;0.068	T	0.00849	-1.1541	10	0.72032	D	0.01	.	15.7735	0.78190	0.0:1.0:0.0:0.0	.	14;40;40	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	L	40;71;40;40;14	ENSP00000422482:S40L;ENSP00000393926:S71L;ENSP00000296464:S40L;ENSP00000427305:S40L;ENSP00000425645:S14L	ENSP00000296464:S40L	S	+	2	0	HSPA4L	128934693	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.899000	0.75682	2.385000	0.81259	0.561000	0.74099	TCA		TCGA-IB-7651-01A-11D-2154-08	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	0	0	1	118	610	0	127	1	6.879715e-01	6	8	0	127	2		0	0	0	0	0	2	1	1	118	599	0	125	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLK4	10733	broad.mit.edu	37	4	128815033	128815033	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128815033C>A	ENST00000270861.5	+	13	2833	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Silent_p.P821P|PLK4_ENST00000507249.1_Silent_p.P792P|PLK4_ENST00000514379.1_Silent_p.P812P|PLK4_ENST00000515069.1_Silent_p.P775P	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4			31					tccttaatccctctgtaagta	0.388000													Colon(135;508 1718 19061 31832 42879)											0							SO:0001819	synonymous_variant			ENST00000270861.5	1	1	hg19	CCDS3735.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3	0	0	0	37	186	0	53	1	9.650562e-01	11	19	0	53	2		0	0	0	0	0	2	1	1	36	182	0	53	2								-2.715990	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
MFSD8	256471	broad.mit.edu	37	4	128841803	128841803	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128841803A>C	ENST00000296468.3	-	13	1666	c.1539T>G	c.(1537-1539)taT>taG	p.Y513*	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8			23					GAATCCTCCCATATCTTACAG	0.473000																								0							SO:0001587	stop_gained			ENST00000296468.3	0	1	hg19	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	A	35	5.477345	0.96291	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	.	.	.	4.33	3.11	0.35812	.	0.376195	0.29565	N	0.011790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2271	9.9504	0.41636	0.9176:0.0:0.0824:0.0	.	.	.	.	X	513;468	.	ENSP00000296468:Y513X	Y	-	3	2	MFSD8	129061253	1.000000	0.71417	0.915000	0.36163	0.620000	0.37586	1.365000	0.34182	1.830000	0.53286	0.459000	0.35465	TAT		TCGA-IB-7651-01A-11D-2154-08	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	1	0	1	73	337	0	84	1	9.910426e-01	14	21	0	84	2		0	0	0	0	0	2	1	1	72	334	0	83	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFSD8	256471	broad.mit.edu	37	4	128843022	128843022	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128843022C>T	ENST00000296468.3	-	11	1222	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Silent_p.Q320Q	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	p.Q365H(1)		23					TACCTTCCCACTGTATTTTGG	0.373000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000296468.3	0	1	hg19	CCDS3736.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	0	0	0	7	199	0	39	0	2.917151e-01	1	27	0	39	2		0	0	0	0	0	2	1	9.801263e-01	7	196	0	38	2								-9.265859	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.430000	0.190000	1.000000	0.390000	0.475605	0.430000	0	2.900000e-01	6.400000e-01
LARP1B	55132	broad.mit.edu	37	4	128999013	128999013	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128999013A>C	ENST00000326639.6	+	4	324	c.113A>C	c.(112-114)aAg>aCg	p.K38T	LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T|LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B			34					AAGGTTGAAAAGAGAAGTAAC	0.378000																								0							SO:0001583	missense			ENST00000326639.6	0	1	hg19	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.13|16.13	3.034923|3.034923	0.54896|0.54896	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	.|T;T;T;T;T;T;T;T	.|0.51071	.|1.77;1.33;1.37;0.74;0.72;1.78;1.75;1.33	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	0.339622|0.339622	0.30028|0.30028	N|N	0.010591|0.010591	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47910	.|0.704;0.873;0.873;0.902	.|B;P;P;B	.|0.47346	.|0.122;0.544;0.544;0.359	T|T	0.40059|0.40059	-0.9583|-0.9583	6|10	.|0.44086	.|T	.|0.13	.|.	12.9379|12.9379	0.58325|0.58325	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|38;38;38;38	.|Q659C4;G3XAJ5;Q659C4-3;G3V0E9	.|LAR1B_HUMAN;.;.;.	N|T	6|38	.|ENSP00000321997:K38T;ENSP00000422850:K38T;ENSP00000427281:K38T;ENSP00000377829:K38T;ENSP00000390395:K38T;ENSP00000264584:K38T;ENSP00000396521:K38T;ENSP00000403586:K38T	.|ENSP00000264584:K38T	K|K	+|+	3|2	2|0	LARP1B|LARP1B	129218463|129218463	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	4.835000|4.835000	0.62781|0.62781	1.791000|1.791000	0.52520|0.52520	0.386000|0.386000	0.25728|0.25728	AAA|AAG		TCGA-IB-7651-01A-11D-2154-08	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	0	0	0	6	191	0	22	1	9.248425e-01	12	138	0	22	2		0	0	0	0	0	2	1	9.628260e-01	6	186	0	22	2								-3.222692	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.390000	0.160000	1.000000	0.350000	0.439382	0.390000	0	2.500000e-01	6.000000e-01
LARP1B	55132	broad.mit.edu	37	4	129012165	129012165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129012165G>A	ENST00000326639.6	+	6	579	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	p.R123L(2)		34					GGTTGGAAGCGAGATAGAGAA	0.373000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000326639.6	0	1	hg19	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402398	0.25291	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T;T;T	0.46063	1.93;1.48;1.46;0.9;0.88;1.9;1.9;1.49	3.85	3.01	0.34805	.	0.250440	0.35936	N	0.002887	T	0.37348	0.1000	L	0.53249	1.67	0.80722	D	1	P;D;B;B	0.60575	0.459;0.988;0.057;0.116	B;P;B;B	0.48227	0.014;0.571;0.011;0.008	T	0.22730	-1.0208	10	0.13108	T	0.6	.	6.9733	0.24660	0.0895:0.0:0.7395:0.171	.	123;123;123;123	Q659C4;G3XAJ5;Q659C4-3;G3V0E9	LAR1B_HUMAN;.;.;.	Q	123;123;76;123;123;76;123;123	ENSP00000321997:R123Q;ENSP00000422850:R123Q;ENSP00000427281:R76Q;ENSP00000377829:R123Q;ENSP00000390395:R123Q;ENSP00000264584:R76Q;ENSP00000396521:R123Q;ENSP00000403586:R123Q	ENSP00000264584:R76Q	R	+	2	0	LARP1B	129231615	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	3.600000	0.54052	0.963000	0.38082	-0.237000	0.12165	CGA		TCGA-IB-7651-01A-11D-2154-08	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	1	0	0	70	313	0	50	1	9.999999e-01	32	78	0	50	2		0	0	0	0	0	2	1	1	70	307	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARP1B	55132	broad.mit.edu	37	4	129043322	129043322	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129043322A>T	ENST00000326639.6	+	11	1714	c.1503A>T	c.(1501-1503)gaA>gaT	p.E501D	LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D|LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B			34					AAGAAGATGAAAACAAACACA	0.358000																								0							SO:0001583	missense			ENST00000326639.6	1	1	hg19	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.88|15.88	2.962449|2.962449	0.53400|0.53400	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T|.	0.36878|.	1.72;1.23;1.26;1.75;1.71;1.28|.	4.88|4.88	2.36|2.36	0.29203|0.29203	.|.	0.735154|.	0.12853|.	N|.	0.433769|.	T|.	0.55305|.	0.1912|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P;D;B|.	0.60160|.	0.768;0.987;0.031|.	B;P;B|.	0.55455|.	0.418;0.776;0.043|.	T|.	0.49293|.	-0.8955|.	10|.	0.20519|.	T|.	0.43|.	.|.	7.076|7.076	0.25205|0.25205	0.7959:0.0:0.073:0.1311|0.7959:0.0:0.073:0.1311	.|.	454;501;501|.	D6RJB0;Q659C4;G3XAJ5|.	.;LAR1B_HUMAN;.|.	D|X	501;501;454;454;501;501|470	ENSP00000321997:E501D;ENSP00000422850:E501D;ENSP00000427281:E454D;ENSP00000264584:E454D;ENSP00000396521:E501D;ENSP00000403586:E501D|.	ENSP00000264584:E454D|.	E|K	+|+	3|1	2|0	LARP1B|LARP1B	129262772|129262772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.475000|0.475000	0.33008|0.33008	2.360000|2.360000	0.44151|0.44151	0.869000|0.869000	0.35703|0.35703	0.491000|0.491000	0.48974|0.48974	GAA|AAA		TCGA-IB-7651-01A-11D-2154-08	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	1	0	1	77	367	0	92	1	9.983198e-01	17	31	0	92	2		0	0	0	0	0	2	1	1	77	358	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARP1B	55132	broad.mit.edu	37	4	129128500	129128500	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129128500C>A	ENST00000326639.6	+	19	2720	c.2509C>A	c.(2509-2511)Ctc>Atc	p.L837I	LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B			34					TCAGGAATACCTCTGTAGTTT	0.323000																								0							SO:0001583	missense			ENST00000326639.6	0	1	hg19	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759944	0.69763	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.04603	3.59;3.59;3.59	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.78223	2.4	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.998	T	0.02156	-1.1204	10	0.87932	D	0	.	17.0318	0.86463	0.0:1.0:0.0:0.0	.	47;256;837	Q659C4-8;Q659C4-5;Q659C4	.;.;LAR1B_HUMAN	I	837;778;256	ENSP00000321997:L837I;ENSP00000264584:L778I;ENSP00000346444:L256I	ENSP00000264584:L778I	L	+	1	0	LARP1B	129347950	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.602000	0.67612	2.211000	0.71520	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	0	0	0	9	282	0	57	0	3.549384e-01	1	36	0	57	2		0	0	0	0	0	2	1	9.941426e-01	8	280	0	57	2								-2.503522	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.380000	0.180000	1.000000	0.370000	0.430979	0.380000	0	2.700000e-01	5.500000e-01
PHF17	0	broad.mit.edu	37	4	129783239	129783239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129783239G>A	ENST00000226319.6	+	9	1642	c.1362G>A	c.(1360-1362)tgG>tgA	p.W454*	PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*	NM_199320.2	NP_955352.1						29					ACCAGTACTGGAAGTTGAAGA	0.502000																								0							SO:0001587	stop_gained			ENST00000226319.6	0	1	hg19	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	36	5.869016	0.97049	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	.	.	.	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2619	0.60111	0.076:0.0:0.924:0.0	.	.	.	.	X	454;454;442;454;454;454	.	.	W	+	3	0	PHF17	130002689	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.901000	0.92560	1.347000	0.45714	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1	1	0	1	101	353	0	86	1	1	20	71	0	86	2		0	0	0	0	0	2	1	1	98	345	0	85	2								-4.276379	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C4orf33	132321	broad.mit.edu	37	4	130023756	130023756	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130023756G>T	ENST00000281146.5	+	2	712		c.e2-1		C4orf33_ENST00000425929.1_Splice_Site|C4orf33_ENST00000502887.1_Splice_Site	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33			10					TTTTCTTTTAGAGACTTCAGA	0.348000																								0							SO:0001630	splice_region_variant			ENST00000281146.5	0	1	hg19	CCDS3741.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	0	0	0	7	274	0	51	0	2.722490e-02	0	9	0	51	2		0	0	0	0	0	2	1	9.788961e-01	7	266	0	51	2								-7.886626	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.310000	0.130000	1.000000	0.290000	0.366365	0.310000	0	2.100000e-01	4.700000e-01
C4orf33	132321	broad.mit.edu	37	4	130032917	130032917	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130032917C>A	ENST00000281146.5	+	6	1292	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33			10					GGAATCAGACCTGTGGCTAAT	0.328000																								0							SO:0001583	missense			ENST00000281146.5	1	1	hg19	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448617	0.63178	.	.	ENSG00000151470	ENST00000281146;ENST00000425929	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58429	-0.7638	10	0.66056	D	0.02	-42.9836	18.7332	0.91744	0.0:1.0:0.0:0.0	.	191	Q8N1A6	CD033_HUMAN	M	191	ENSP00000281146:L191M;ENSP00000401090:L191M	ENSP00000281146:L191M	L	+	1	2	C4orf33	130252367	1.000000	0.71417	0.999000	0.59377	0.155000	0.21991	2.553000	0.45837	2.722000	0.93159	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	1	0	1	45	226	0	53	1	9.995504e-01	19	42	0	53	2		0	0	0	0	0	2	1	1	45	223	0	53	2								-3.005868	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAEA	10296	broad.mit.edu	37	4	1305803	1305803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1305803G>A	ENST00000303400.4	+	2	169	c.106G>A	c.(106-108)Gct>Act	p.A36T	MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000510794.1_Missense_Mutation_p.A35T|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000452175.2_Missense_Mutation_p.A25T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	p.A36T(1)		18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)	WF10(DB05389)	CTTTCGCGCCGCTCAGAAGAA	0.642000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000303400.4	1	1	hg19	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657007	0.88154	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794	T;T;T;T;T;T;T;T	0.49432	0.87;0.86;0.81;0.86;0.78;0.8;0.84;0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.81614	2.55	0.48696	D	0.99969	P;D;P;P;D;B	0.58268	0.918;0.971;0.914;0.474;0.982;0.41	B;P;P;B;P;B	0.52627	0.391;0.459;0.596;0.126;0.704;0.115	T	0.61491	-0.7052	10	0.30078	T	0.28	-5.4561	20.3775	0.98923	0.0:0.0:1.0:0.0	.	35;36;36;36;36;36	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	T	36;36;36;36;36;36;36;25;36;35	ENSP00000302830:A36T;ENSP00000422215:A36T;ENSP00000421644:A36T;ENSP00000264750:A36T;ENSP00000426903:A36T;ENSP00000411415:A25T;ENSP00000427512:A36T;ENSP00000426807:A35T	ENSP00000264750:A36T	A	+	1	0	MAEA	1295803	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	9.479000	0.97929	2.819000	0.97034	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	1	0	1	52	229	0	53	1	1	61	114	0	53	2		0	0	0	0	0	2	1	1	51	226	0	52	2								-3.367061	1	1	121412	1	29	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB28	9364	broad.mit.edu	37	4	13370206	13370206	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13370206T>G	ENST00000330852.5	-	7	856	c.642A>C	c.(640-642)agA>agC	p.R214S	RAB28_ENST00000288723.4_3'UTR|RAB28_ENST00000338176.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family			8					ACATAGAGCTTCTAGGAGGGT	0.453000																								0							SO:0001583	missense			ENST00000330852.5	1	1	hg19	CCDS33961.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796757	0.50208	.	.	ENSG00000157869	ENST00000330852	T	0.69040	-0.37	6.07	-1.16	0.09678	.	0.111387	0.64402	N	0.000013	T	0.45875	0.1364	L	0.27053	0.805	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.07177	-1.0786	10	0.45353	T	0.12	.	6.2495	0.20837	0.0:0.1625:0.2382:0.5993	.	214	P51157	RAB28_HUMAN	S	214	ENSP00000328551:R214S	ENSP00000328551:R214S	R	-	3	2	RAB28	12979304	0.909000	0.30893	0.916000	0.36221	0.997000	0.91878	-0.038000	0.12144	-0.392000	0.07751	0.533000	0.62120	AGA		TCGA-IB-7651-01A-11D-2154-08	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	1	0	1	50	271	0	62	1	9.996134e-01	16	50	0	62	2		0	0	0	0	0	2	1	1	49	265	0	61	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PCDH10	57575	broad.mit.edu	37	4	134071249	134071249	+	Translation_Start_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071249T>G	ENST00000264360.5	+	0	780				RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					GGGGAGGTGATTGGGTGGCTG	0.448000																								0											ENST00000264360.5	0	1	hg19	CCDS34063.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	0	0	81	334	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	78	314	0	68	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH10	57575	broad.mit.edu	37	4	134071416	134071416	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071416C>A	ENST00000264360.5	+	1	947	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					CGCTGAAGATCTGGGTCTGGA	0.532000																								0							SO:0001583	missense			ENST00000264360.5	1	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640984	0.47153	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.59364	0.27	4.77	3.06	0.35304	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.35436	N	0.003220	T	0.77579	0.4151	M	0.91140	3.18	0.52099	D	0.999947	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.78234	-0.2283	10	0.87932	D	0	.	8.4123	0.32651	0.0:0.7561:0.0:0.2439	.	41;41	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	41	ENSP00000264360:L41M	ENSP00000264360:L41M	L	+	1	2	PCDH10	134290866	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.212000	0.51145	0.617000	0.30160	-0.263000	0.10527	CTG		TCGA-IB-7651-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	0	0	16	588	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	9.999142e-01	15	570	0	135	2								-3.063234	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.320000	0.180000	1.000000	0.310000	0.366794	0.320000	0	2.400000e-01	4.300000e-01
PCDH10	57575	broad.mit.edu	37	4	134071914	134071914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071914G>T	ENST00000264360.5	+	1	1445	c.619G>T	c.(619-621)Gga>Tga	p.G207*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					GGTGGACggaggaggtggggg	0.692000																								0							SO:0001587	stop_gained			ENST00000264360.5	0	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	45	11.398851	0.99556	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.42	4.42	0.53409	.	0.000000	0.36665	N	0.002475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8044	0.85622	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264360:G207X	G	+	1	0	PCDH10	134291364	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.435000	0.90297	2.261000	0.74972	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1	71	255	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	68	243	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH10	57575	broad.mit.edu	37	4	134072528	134072528	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134072528T>G	ENST00000264360.5	+	1	2059	c.1233T>G	c.(1231-1233)aaT>aaG	p.N411K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					CCTTTAAGAATTACTACACCA	0.607000																								0							SO:0001583	missense			ENST00000264360.5	1	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806162	0.50421	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01705	4.68	4.68	0.389	0.16269	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000174	T	0.07593	0.0191	M	0.78223	2.4	0.52501	D	0.999956	D;D	0.76494	0.999;0.975	D;P	0.87578	0.998;0.838	T	0.03619	-1.1019	10	0.51188	T	0.08	.	8.2866	0.31932	0.0:0.6128:0.0:0.3872	.	411;411	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	411	ENSP00000264360:N411K	ENSP00000264360:N411K	N	+	3	2	PCDH10	134291978	0.995000	0.38212	1.000000	0.80357	0.968000	0.65278	0.404000	0.20999	0.110000	0.17919	0.459000	0.35465	AAT		TCGA-IB-7651-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1	248	1189	0	244		0	0	0	0	244	2		0	0	0	0	0	2	1	1	247	1165	0	235	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH10	57575	broad.mit.edu	37	4	134073073	134073073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073073C>T	ENST00000264360.5	+	1	2604	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					CTGCCCCGCTCGGCGGAGCCG	0.657000																								0							SO:0001583	missense			ENST00000264360.5	1	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829921	0.50845	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.39997	1.05	4.5	4.5	0.54988	Cadherin (2);Cadherin-like (1);	0.000000	0.40144	N	0.001165	T	0.34745	0.0908	L	0.41236	1.265	0.49299	D	0.999777	P;B	0.38455	0.632;0.258	B;B	0.34346	0.18;0.076	T	0.19224	-1.0312	10	0.34782	T	0.22	.	17.0032	0.86386	0.0:1.0:0.0:0.0	.	593;593	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	593	ENSP00000264360:S593L	ENSP00000264360:S593L	S	+	2	0	PCDH10	134292523	0.000000	0.05858	1.000000	0.80357	0.413000	0.31143	0.592000	0.23984	2.325000	0.78763	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	0	1	71	278	1	60		0	0	0	1	60	2		0	0	0	0	0	2	1	1	69	273	1	59	19								-20.000000	1	1	119858	1	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH10	57575	broad.mit.edu	37	4	134073339	134073339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073339G>A	ENST00000264360.5	+	1	2870	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					GGTGGATGGCGCCGTGGAGCC	0.716000																								0							SO:0001583	missense			ENST00000264360.5	1	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	1.108	-0.658915	0.03454	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53206	0.63	4.62	3.78	0.43462	Cadherin (1);	0.000000	0.44902	D	0.000401	T	0.24890	0.0604	N	0.19112	0.55	0.35519	D	0.801305	P;P	0.35612	0.491;0.512	B;B	0.26416	0.028;0.069	T	0.27088	-1.0084	10	0.27082	T	0.32	.	6.9938	0.24769	0.0899:0.0:0.7385:0.1716	.	682;682	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	682	ENSP00000264360:A682T	ENSP00000264360:A682T	A	+	1	0	PCDH10	134292789	0.569000	0.26643	0.191000	0.23289	0.012000	0.07955	1.811000	0.38942	1.171000	0.42768	-0.136000	0.14681	GCC		TCGA-IB-7651-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	0	62	226	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	62	223	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH10	57575	broad.mit.edu	37	4	134073477	134073477	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073477A>G	ENST00000264360.5	+	1	3008	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					GGTGTCCTTCATCTTCCTGCT	0.592000																								0							SO:0001583	missense			ENST00000264360.5	1	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470172	0.26423	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	3.29	0.37713	.	0.170949	0.28706	N	0.014403	T	0.28466	0.0704	N	0.13299	0.325	0.51012	D	0.999904	B;B	0.12013	0.005;0.004	B;B	0.19946	0.012;0.027	T	0.04551	-1.0943	10	0.24483	T	0.36	.	9.7391	0.40406	0.9168:0.0:0.0832:0.0	.	728;728	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	728	ENSP00000264360:I728V	ENSP00000264360:I728V	I	+	1	0	PCDH10	134292927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	0.750000	0.32877	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1	100	372	0	81	0	4.575616e-02	0	2	0	81	2		0	0	0	0	0	2	1	1	97	366	0	81	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH10	57575	broad.mit.edu	37	4	134084171	134084171	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134084171C>A	ENST00000264360.5	+	4	3663	c.2837C>A	c.(2836-2838)gCt>gAt	p.A946D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					GAATGTAAAGCTCTGGGCCAC	0.483000																								0							SO:0001583	missense			ENST00000264360.5	1	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889390	0.91889	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.94	4.94	0.65067	.	0.000000	0.36268	N	0.002697	T	0.58821	0.2149	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.59726	-0.7400	10	0.51188	T	0.08	.	18.3154	0.90218	0.0:1.0:0.0:0.0	.	946	Q9P2E7	PCD10_HUMAN	D	946	ENSP00000264360:A946D	ENSP00000264360:A946D	A	+	2	0	PCDH10	134303621	1.000000	0.71417	0.959000	0.39883	0.921000	0.55340	7.278000	0.78587	2.717000	0.92951	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	1	0	1	68	383	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	1	68	376	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH18	54510	broad.mit.edu	37	4	138442595	138442595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138442595G>A	ENST00000344876.4	-	4	3382	c.2996C>T	c.(2995-2997)aCc>aTc	p.T999I	PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I|PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18			86	all_hematologic(180;0.24)				TGATGTGCTGGTATCCCCAGT	0.517000																								0							SO:0001583	missense			ENST00000344876.4	1	1	hg19	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	4.669	0.124348	0.08931	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.53640	0.7;0.7;0.61;1.54;1.53	4.97	2.2	0.27929	.	0.818812	0.10144	N	0.710525	T	0.34745	0.0908	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.16396	0.017;0.001;0.001;0.001	B;B;B;B	0.15484	0.013;0.003;0.005;0.004	T	0.26643	-1.0097	10	0.38643	T	0.18	.	5.217	0.15348	0.0705:0.1278:0.5378:0.2639	.	179;778;998;999	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	I	999;998;778;210;179	ENSP00000355082:T999I;ENSP00000390688:T998I;ENSP00000425903:T778I;ENSP00000424269:T210I;ENSP00000425647:T179I	ENSP00000355082:T999I	T	-	2	0	PCDH18	138662045	0.001000	0.12720	0.019000	0.16419	0.673000	0.39480	0.586000	0.23894	0.118000	0.18165	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1	71	299	0	59	0	9.999544e-01	0	64	0	59	2		0	0	0	0	0	2	1	1	71	291	0	59	2								-20.000000	1	1	121408	2	31	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH18	54510	broad.mit.edu	37	4	138451342	138451342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138451342C>T	ENST00000344876.4	-	1	2287	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18			86	all_hematologic(180;0.24)				GTCACATGATCGTGGATCAAT	0.438000																								0							SO:0001583	missense			ENST00000344876.4	1	1	hg19	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594153	0.28445	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	5.93	2.81	0.32909	Cadherin (4);Cadherin-like (1);	0.249600	0.20560	N	0.089923	T	0.32496	0.0831	L	0.38733	1.17	0.09310	N	0.999995	B;B;B	0.20671	0.023;0.003;0.047	B;B;B	0.17098	0.012;0.003;0.017	T	0.14839	-1.0458	10	0.25106	T	0.35	.	6.8418	0.23967	0.0:0.5662:0.0:0.4338	.	414;634;634	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	Q	634;634;414	ENSP00000355082:R634Q;ENSP00000390688:R634Q;ENSP00000425903:R414Q	ENSP00000355082:R634Q	R	-	2	0	PCDH18	138670792	0.001000	0.12720	0.964000	0.40570	0.992000	0.81027	1.013000	0.29937	0.791000	0.33826	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1	223	909	0	210	0	9.999403e-01	0	58	0	210	2		0	0	0	0	0	2	1	1	217	895	0	210	2								-3.452284	1	1	121410	2	43	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH18	54510	broad.mit.edu	37	4	138452051	138452051	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452051T>C	ENST00000344876.4	-	1	1578	c.1192A>G	c.(1192-1194)Aag>Gag	p.K398E	PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18			86	all_hematologic(180;0.24)				CCATGAAGCTTACAAACTATT	0.343000																								0							SO:0001583	missense			ENST00000344876.4	1	1	hg19	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	9.072	0.997051	0.19043	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51325	0.71;0.71;0.71	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.146640	0.30593	N	0.009295	T	0.29749	0.0743	N	0.03967	-0.31	0.80722	D	1	B;B;B	0.33022	0.108;0.006;0.394	B;B;B	0.37015	0.153;0.016;0.239	T	0.25502	-1.0130	10	0.21540	T	0.41	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	178;398;398	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	E	398;398;178	ENSP00000355082:K398E;ENSP00000390688:K398E;ENSP00000425903:K178E	ENSP00000355082:K398E	K	-	1	0	PCDH18	138671501	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.823000	0.62694	2.313000	0.78055	0.455000	0.32223	AAG		TCGA-IB-7651-01A-11D-2154-08	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1	88	378	0	92	0	9.998875e-01	0	59	0	92	2		0	0	0	0	0	2	1	1	85	372	0	92	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH18	54510	broad.mit.edu	37	4	138452324	138452324	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452324T>G	ENST00000344876.4	-	1	1305	c.919A>C	c.(919-921)Act>Cct	p.T307P	PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18			86	all_hematologic(180;0.24)				TTGAAAAGAGTCAAATGTCCT	0.378000																								0							SO:0001583	missense			ENST00000344876.4	1	1	hg19	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387495	0.42308	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55234	0.53;0.53;0.53	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.000000	0.44688	D	0.000440	T	0.81513	0.4838	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.86612	0.1873	10	0.52906	T	0.07	.	16.3083	0.82859	0.0:0.0:0.0:1.0	.	87;307;307	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	P	307;307;87	ENSP00000355082:T307P;ENSP00000390688:T307P;ENSP00000425903:T87P	ENSP00000355082:T307P	T	-	1	0	PCDH18	138671774	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	6.093000	0.71422	2.250000	0.74265	0.455000	0.32223	ACT		TCGA-IB-7651-01A-11D-2154-08	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1	43	203	0	52	0	9.883998e-01	0	36	0	52	2		0	0	0	0	0	2	1	1	43	201	0	51	2								-19.999900	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC7A11	23657	broad.mit.edu	37	4	139163042	139163042	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:139163042C>A	ENST00000280612.5	-	1	461	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11			18	all_hematologic(180;0.166)			Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GATGAAGATTCCTGCTCCAAT	0.542000																								0							SO:0001583	missense			ENST00000280612.5	1	1	hg19	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240873	0.95272	.	.	ENSG00000151012	ENST00000280612	D	0.92911	-3.13	6.03	6.03	0.97812	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98196	1.0465	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	61	Q9UPY5	XCT_HUMAN	V	61	ENSP00000280612:G61V	ENSP00000280612:G61V	G	-	2	0	SLC7A11	139382492	1.000000	0.71417	0.804000	0.32291	0.976000	0.68499	7.731000	0.84895	2.861000	0.98227	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2	0	0	1	75	334	0	98	1	9.998570e-01	26	34	0	98	2		0	0	0	0	0	2	1	1	74	328	0	97	2								-3.325576	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAA15	80155	broad.mit.edu	37	4	140270711	140270711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140270711G>T	ENST00000296543.5	+	7	1110	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.G263C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit			29					CTATTACAAAGGCTTGGAAAA	0.343000																								0							SO:0001583	missense			ENST00000296543.5	0	1	hg19	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766563	0.90020	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.53857	0.6;0.6	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.113779	0.64402	D	0.000011	T	0.74176	0.3682	M	0.81802	2.56	0.80722	D	1	D	0.59357	0.985	D	0.64687	0.928	T	0.76063	-0.3096	10	0.62326	D	0.03	-5.8465	19.4586	0.94906	0.0:0.0:1.0:0.0	.	263	Q9BXJ9	NAA15_HUMAN	C	263;137;263	ENSP00000296543:G263C;ENSP00000381920:G263C	ENSP00000296543:G263C	G	+	1	0	NAA15	140490161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.112000	0.94314	2.828000	0.97474	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	0	0	0	8	172	0	24	1	9.168857e-01	9	88	0	24	2		0	0	0	0	0	2	1	9.886240e-01	8	167	0	24	2								-10.503360	1	1	120776	1	33	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.550000	0.260000	1.000000	0.520000	0.591983	0.550000	0	3.800000e-01	8.000000e-01
MGST2	4258	broad.mit.edu	37	4	140599697	140599697	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140599697G>A	ENST00000265498.1	+	2	311	c.59G>A	c.(58-60)aGt>aAt	p.S20N	MGST2_ENST00000515137.1_Intron|MGST2_ENST00000506797.1_Splice_Site_p.S20N	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2			2	all_hematologic(180;0.162)			Busulfan(DB01008)|Glutathione(DB00143)	TTACTTGCAGGTTATTTTGCT	0.398000																								0							SO:0001630	splice_region_variant			ENST00000265498.1	1	0	hg19	CCDS3749.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345809	0.41599	.	.	ENSG00000085871	ENST00000265498;ENST00000506797	T;T	0.68765	0.37;-0.35	5.25	-0.316	0.12743	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.228496	0.35646	N	0.003078	T	0.49012	0.1532	L	0.52364	1.645	0.29147	N	0.878651	B	0.12630	0.006	B	0.12156	0.007	T	0.21042	-1.0257	9	.	.	.	.	1.4533	0.02380	0.1712:0.1329:0.4008:0.2952	.	20	Q99735	MGST2_HUMAN	N	20	ENSP00000265498:S20N;ENSP00000424278:S20N	.	S	+	2	0	MGST2	140819147	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	0.295000	0.19065	0.185000	0.20105	0.561000	0.74099	AGT		TCGA-IB-7651-01A-11D-2154-08	MGST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257232.2	1	0	1	31	136	0	40	1	1	58	270	0	40	2		0	0	0	0	0	2	1	1	31	135	0	40	2								-19.280290	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MAML3	55534	broad.mit.edu	37	4	140640600	140640600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140640600G>A	ENST00000509479.2	-	5	4150	c.3294C>T	c.(3292-3294)ggC>ggT	p.G1098G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)			25	all_hematologic(180;0.162)				CAGCTCCGTCGCCACTGTAAT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000509479.2	1	1	hg19	CCDS54805.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2	1	0	1	49	293	0	41	0	8.742973e-01	1	23	0	41	2		0	0	0	0	0	2	1	9.993349e-01	49	291	1	41	24								-3.320457	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
MAML3	55534	broad.mit.edu	37	4	140811481	140811481	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140811481G>T	ENST00000509479.2	-	2	1965	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)			25	all_hematologic(180;0.162)				AGATCCCATGGAGACATGTGC	0.582000																								0							SO:0001583	missense			ENST00000509479.2	1	1	hg19	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642178	0.47153	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.26223	1.75	5.05	5.05	0.67936	.	0.195581	0.43919	D	0.000515	T	0.27169	0.0666	L	0.42245	1.32	0.80722	D	1	P	0.44195	0.828	B	0.40101	0.319	T	0.06972	-1.0797	10	0.62326	D	0.03	.	18.4404	0.90665	0.0:0.0:1.0:0.0	.	370	Q96JK9	MAML3_HUMAN	Y	370;214	ENSP00000421180:S370Y	ENSP00000313316:S214Y	S	-	2	0	MAML3	141030931	1.000000	0.71417	0.945000	0.38365	0.714000	0.41099	6.123000	0.71614	2.318000	0.78349	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2	1	0	1	88	370	0	86	1	8.640067e-01	3	14	0	86	2		0	0	0	0	0	2	1	1	87	360	0	84	2								-3.508440	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLGN	1047	broad.mit.edu	37	4	141310389	141310389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141310389G>A	ENST00000325617.5	-	15	2262	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CLGN_ENST00000414773.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000537281.1_Nonsense_Mutation_p.R608*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin			25	all_hematologic(180;0.162)				TAGTCCTTTCGTACTCTTCTT	0.373000																								0							SO:0001587	stop_gained			ENST00000325617.5	0	1	hg19	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	G	38	6.998730	0.97990	9.08E-4	0.0	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	.	.	.	5.22	4.32	0.51571	.	0.173966	0.37348	N	0.002125	.	.	.	.	.	.	0.31086	N	0.711327	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2011	15.6991	0.77528	0.0:0.0:0.8631:0.1369	.	.	.	.	X	608;608;608;525	.	ENSP00000326699:R608X	R	-	1	2	CLGN	141529839	1.000000	0.71417	0.972000	0.41901	0.839000	0.47603	6.257000	0.72480	2.584000	0.87258	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	0	0	0	16	409	0	61	0	9.478533e-02	1	12	0	61	2		0	0	0	0	0	2	1	9.999296e-01	16	404	0	61	2								-3.092922	1	1	121408	81	50	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.460000	0.270000	1.000000	0.440000	0.495724	0.460000	0	3.500000e-01	6.000000e-01
CLGN	1047	broad.mit.edu	37	4	141316994	141316994	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141316994C>A	ENST00000325617.5	-	10	1568	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	CLGN_ENST00000414773.1_Silent_p.L376L|CLGN_ENST00000537281.1_Silent_p.L376L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin			25	all_hematologic(180;0.162)				GATTATCGACCAGTGGAGGTC	0.378000																								0							SO:0001819	synonymous_variant			ENST00000325617.5	1	1	hg19	CCDS3751.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	1	0	1	60	302	0	54	1	5.162789e-01	5	5	0	54	2		0	0	0	0	0	2	1	1	58	298	0	54	2								-3.342771	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLGN	1047	broad.mit.edu	37	4	141317309	141317309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141317309G>A	ENST00000325617.5	-	9	1375	c.935C>T	c.(934-936)gCt>gTt	p.A312V	CLGN_ENST00000414773.1_Missense_Mutation_p.A312V|CLGN_ENST00000537281.1_Missense_Mutation_p.A312V	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin			25	all_hematologic(180;0.162)				AAGCCAGCCAGCAGGTTTAAC	0.348000																								0							SO:0001583	missense			ENST00000325617.5	1	1	hg19	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.106850	0.56291	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.50277	0.75;0.75;0.75	5.83	3.32	0.38043	Calreticulin/calnexin, P (2);	0.379589	0.31461	N	0.007609	T	0.30103	0.0754	N	0.17345	0.48	0.28319	N	0.922337	B	0.02656	0.0	B	0.10450	0.005	T	0.23119	-1.0197	10	0.56958	D	0.05	-6.4273	9.1602	0.37019	0.1194:0.0:0.1338:0.7468	.	312	O14967	CLGN_HUMAN	V	312;312;312;229	ENSP00000326699:A312V;ENSP00000392782:A312V;ENSP00000439381:A312V	ENSP00000326699:A312V	A	-	2	0	CLGN	141536759	0.998000	0.40836	0.997000	0.53966	0.939000	0.58152	4.223000	0.58587	1.045000	0.40225	-0.422000	0.05995	GCT		TCGA-IB-7651-01A-11D-2154-08	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	0	0	1	195	756	1	145	1	5.797250e-01	5	4	1	145	2		0	0	0	0	0	2	1	1	191	747	0	145	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELMOD2	255520	broad.mit.edu	37	4	141461345	141461345	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2			7	all_hematologic(180;0.162)				TAATGCCCACGAAGAAGTTAA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000323570.3	1	1	hg19	CCDS3752.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	1	0	0	15	305	0	61	1	9.587748e-01	5	106	0	61	2		0	0	0	0	0	2	1	9.998595e-01	15	298	0	61	2								-4.476859	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.570000	0.330000	1.000000	0.540000	0.602558	0.570000	0	4.300000e-01	7.600000e-01
ELMOD2	255520	broad.mit.edu	37	4	141464612	141464612	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141464612C>T	ENST00000323570.3	+	8	740	c.608C>T	c.(607-609)tCt>tTt	p.S203F		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2			7	all_hematologic(180;0.162)				CATAGGTATTCTTATGCAATA	0.328000																								0							SO:0001583	missense			ENST00000323570.3	1	1	hg19	CCDS3752.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855224	0.71719	.	.	ENSG00000179387	ENST00000323570	T	0.30981	1.51	6.16	6.16	0.99307	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48258	-0.9051	10	0.49607	T	0.09	-1.3426	20.8598	0.99761	0.0:1.0:0.0:0.0	.	203	Q8IZ81	ELMD2_HUMAN	F	203	ENSP00000326342:S203F	ENSP00000326342:S203F	S	+	2	0	ELMOD2	141684062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.937000	0.99478	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	1	0	1	84	449	0	141	1	9.999989e-01	26	80	0	141	2		0	0	0	0	0	2	1	1	83	445	0	141	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UCP1	7350	broad.mit.edu	37	4	141483492	141483492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141483492C>T	ENST00000262999.3	-	5	739	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)			16	all_hematologic(180;0.162)				CAAAATCCAGCGATAAGAGCC	0.463000																								0							SO:0001583	missense			ENST00000262999.3	0	1	hg19	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665467	0.88251	.	.	ENSG00000109424	ENST00000262999	D	0.87103	-2.21	5.83	5.83	0.93111	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.94187	0.7437	10	0.62326	D	0.03	.	17.6254	0.88092	0.0:1.0:0.0:0.0	.	221;222	Q4KMT7;P25874	.;UCP1_HUMAN	T	222	ENSP00000262999:A222T	ENSP00000262999:A222T	A	-	1	0	UCP1	141702942	1.000000	0.71417	0.848000	0.33437	0.415000	0.31203	7.333000	0.79214	2.773000	0.95371	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1	0	0	0	10	293	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.968543e-01	10	290	0	50	2								-3.735168	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.410000	0.200000	1.000000	0.390000	0.452517	0.410000	0	2.900000e-01	5.800000e-01
TBC1D9	23158	broad.mit.edu	37	4	141543376	141543376	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543376G>A	ENST00000442267.2	-	21	3848	c.3774C>T	c.(3772-3774)gaC>gaT	p.D1258D		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)			31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)			AGATTTCATAGTCACTGGCCG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000442267.2	1	1	hg19	CCDS47136.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	1	0	1	70	375	0	82	1	9.999942e-01	8	87	0	82	2		0	0	0	0	0	2	1	1	69	363	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D9	23158	broad.mit.edu	37	4	141543813	141543813	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543813G>T	ENST00000442267.2	-	21	3411	c.3337C>A	c.(3337-3339)Ctg>Atg	p.L1113M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)			31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)			CTGGCCGGCAGGGGCTCAACA	0.672000																								0							SO:0001583	missense			ENST00000442267.2	1	1	hg19	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	4.223	0.040286	0.08148	.	.	ENSG00000109436	ENST00000442267	T	0.50813	0.73	4.86	4.01	0.46588	.	.	.	.	.	T	0.36799	0.0980	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.29598	0.104	T	0.31308	-0.9948	9	0.38643	T	0.18	.	4.3356	0.11085	0.2044:0.2051:0.5906:0.0	.	1113	Q6ZT07	TBCD9_HUMAN	M	1113	ENSP00000411197:L1113M	ENSP00000411197:L1113M	L	-	1	2	TBC1D9	141763263	0.965000	0.33210	0.285000	0.24819	0.513000	0.34164	3.633000	0.54295	1.018000	0.39521	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	1	0	1	53	274	0	50	1	9.999938e-01	10	84	0	50	2		0	0	0	0	0	2	1	1	52	267	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D9	23158	broad.mit.edu	37	4	141543992	141543992	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543992G>A	ENST00000442267.2	-	21	3232	c.3158C>T	c.(3157-3159)aCg>aTg	p.T1053M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)			31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)			CACTGCTGCCGTGGCGTGGTA	0.567000																								0							SO:0001583	missense			ENST00000442267.2	0	1	hg19	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721948	0.68959	.	.	ENSG00000109436	ENST00000442267	T	0.66460	-0.21	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.48738	0.588	T	0.74478	-0.3652	10	0.72032	D	0.01	.	18.9312	0.92566	0.0:0.0:1.0:0.0	.	1053	Q6ZT07	TBCD9_HUMAN	M	1053	ENSP00000411197:T1053M	ENSP00000411197:T1053M	T	-	2	0	TBC1D9	141763442	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	8.032000	0.88838	2.461000	0.83175	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	0	0	0	4	87	0	10	1	8.893521e-01	3	87	0	10	2		0	0	0	0	0	2	1	8.893521e-01	4	86	0	10	2								-7.737441	1	1	120904	2	29	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.580000	0.190000	1.000000	1.000000	0.613209	0.580000	0	3.500000e-01	9.300000e-01
TBC1D9	23158	broad.mit.edu	37	4	141578910	141578910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141578910G>A	ENST00000442267.2	-	12	2052	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)			31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)			CAGTCGTACAGCTGTGGGACG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000442267.2	1	1	hg19	CCDS47136.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	1	0	1	145	614	0	183	1	1	6	100	0	183	2		0	0	0	0	0	2	1	1	142	607	0	181	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D9	23158	broad.mit.edu	37	4	141590134	141590134	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141590134G>A	ENST00000442267.2	-	9	1599	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)			31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)			ACCAGCTCCCGCGTTTTCTCT	0.562000																								0							SO:0001583	missense			ENST00000442267.2	1	1	hg19	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325543	0.81580	.	.	ENSG00000109436	ENST00000442267	T	0.05258	3.47	5.61	5.61	0.85477	Rab-GAP/TBC domain (1);	0.106323	0.64402	D	0.000006	T	0.23965	0.0580	M	0.79475	2.455	0.51767	D	0.999934	D	0.76494	0.999	D	0.63957	0.92	T	0.00073	-1.2127	10	0.72032	D	0.01	-8.8656	14.7148	0.69259	0.0:0.0:0.8214:0.1786	.	509	Q6ZT07	TBCD9_HUMAN	W	509	ENSP00000411197:R509W	ENSP00000411197:R509W	R	-	1	2	TBC1D9	141809584	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	3.861000	0.56002	2.793000	0.96121	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	1	0	0	18	179	0	36	1	9.947844e-01	2	86	0	36	2		0	0	0	0	0	2	1	9.999831e-01	18	175	0	35	2								-19.999980	1	1	121216	3	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.670000	1.000000	1.000000	0.952900	0.990000	1	8.600000e-01	1
TBC1D9	23158	broad.mit.edu	37	4	141591969	141591969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141591969G>T	ENST00000442267.2	-	7	1245	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)			31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)			CTCTGCACTAGAAAGTCTCTA	0.453000																								0							SO:0001583	missense			ENST00000442267.2	1	1	hg19	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414502	0.83449	.	.	ENSG00000109436	ENST00000442267	T	0.11169	2.8	5.45	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.79475	2.455	0.80722	D	1	D	0.56035	0.974	P	0.58013	0.831	T	0.02294	-1.1181	10	0.49607	T	0.09	-4.1014	11.3372	0.49511	0.1577:0.0:0.8423:0.0	.	391	Q6ZT07	TBCD9_HUMAN	I	391	ENSP00000411197:L391I	ENSP00000411197:L391I	L	-	1	2	TBC1D9	141811419	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.760000	0.62235	1.333000	0.45449	0.650000	0.86243	CTA		TCGA-IB-7651-01A-11D-2154-08	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	0	0	1	91	444	1	129	1	9.939987e-01	3	47	1	129	3		0	0	0	0	0	2	1	1	90	438	1	127	15								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPP4B	8821	broad.mit.edu	37	4	143003299	143003299	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:143003299T>C	ENST00000513000.1	-	26	2960	c.2527A>G	c.(2527-2529)Aaa>Gaa	p.K843E	INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E|INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa			58	all_hematologic(180;0.158)				TTGGCACTTTTACAACAGGTG	0.418000																								0							SO:0001583	missense			ENST00000513000.1	1	1	hg19	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	30	5.051655	0.93793	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838	T;T;T;T;T;T	0.32023	1.48;1.48;1.48;1.48;1.47;1.51	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71017	-0.4714	10	0.87932	D	0	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	843	O15327	INP4B_HUMAN	E	843;843;843;843;843;658	ENSP00000425487:K843E;ENSP00000262992:K843E;ENSP00000308441:K843E;ENSP00000423954:K843E;ENSP00000422793:K843E;ENSP00000426207:K658E	ENSP00000262992:K843E	K	-	1	0	INPP4B	143222749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.232000	0.73038	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	1	0	1	48	276	0	53	1	1	64	93	0	53	2		0	0	0	0	0	2	1	1	47	276	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
USP38	84640	broad.mit.edu	37	4	144141476	144141476	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144141476C>T	ENST00000307017.4	+	10	3502	c.2996C>T	c.(2995-2997)gCc>gTc	p.A999V		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38			33	all_hematologic(180;0.158)				CGAGCCCGGGCCCTCCAAGCT	0.428000																								0							SO:0001583	missense			ENST00000307017.4	1	1	hg19	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922702	0.92319	.	.	ENSG00000170185	ENST00000307017	T	0.09911	2.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00115	-1.2039	10	0.37606	T	0.19	-10.3075	20.2043	0.98273	0.0:1.0:0.0:0.0	.	999	Q8NB14	UBP38_HUMAN	V	999	ENSP00000303434:A999V	ENSP00000303434:A999V	A	+	2	0	USP38	144360926	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	2.779000	0.95612	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	1	0	1	64	301	0	70	1	9.999998e-01	24	84	0	70	2		0	0	0	0	0	2	1	1	62	295	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCA5	8467	broad.mit.edu	37	4	144449155	144449155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144449155G>A	ENST00000283131.3	+	7	1398	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5		EWSR1/SMARCA5(2)	21	all_hematologic(180;0.158)				AAGCTCACAGGATCAAAAATG	0.264000																								0							SO:0001819	synonymous_variant			ENST00000283131.3	1	1	hg19	CCDS3761.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3	1	0	1	43	183	0	48	1	1	46	134	0	48	2		0	0	0	0	0	2	1	1	42	181	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HHIP	64399	broad.mit.edu	37	4	145573905	145573905	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145573905A>G	ENST00000296575.3	+	2	1083	c.428A>G	c.(427-429)gAc>gGc	p.D143G	HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.D143G|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein			33	all_hematologic(180;0.151)				CTCTGCAAAGACTATTGCAAA	0.393000																								0							SO:0001583	missense			ENST00000296575.3	1	1	hg19	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839939	0.91117	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.78924	-1.22;-1.22	5.83	5.83	0.93111	Folate receptor-like (1);	0.043571	0.85682	D	0.000000	D	0.86781	0.6015	M	0.74881	2.28	0.80722	D	1	D;B	0.61697	0.99;0.291	D;B	0.63113	0.911;0.091	D	0.87923	0.2705	10	0.62326	D	0.03	-27.2646	16.2127	0.82178	1.0:0.0:0.0:0.0	.	143;143	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	G	143	ENSP00000296575:D143G;ENSP00000408587:D143G	ENSP00000296575:D143G	D	+	2	0	HHIP	145793355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.236000	0.73375	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	1	0	1	84	471	0	127	1	6.089937e-01	4	9	0	127	2		0	0	0	0	0	2	1	1	83	468	0	127	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HHIP	64399	broad.mit.edu	37	4	145633201	145633201	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145633201G>T	ENST00000296575.3	+	8	2056	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein			33	all_hematologic(180;0.151)				GAATTCTACAGATAATAAAGG	0.338000																								0							SO:0001583	missense			ENST00000296575.3	1	1	hg19	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460855	0.26248	.	.	ENSG00000164161	ENST00000296575	T	0.05786	3.39	5.74	3.08	0.35506	Six-bladed beta-propeller, TolB-like (1);	0.051730	0.85682	D	0.000000	T	0.05960	0.0155	L	0.51422	1.61	0.80722	D	1	P	0.38788	0.647	B	0.34452	0.183	T	0.41142	-0.9525	10	0.36615	T	0.2	-10.7005	7.1988	0.25868	0.1943:0.0:0.6819:0.1238	.	467	Q96QV1	HHIP_HUMAN	H	467	ENSP00000296575:Q467H	ENSP00000296575:Q467H	Q	+	3	2	HHIP	145852651	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.660000	0.46749	0.769000	0.33313	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	1	0	1	101	462	0	106	0	5.607832e-01	1	9	0	106	2		0	0	0	0	0	2	1	1	100	459	0	106	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HHIP	64399	broad.mit.edu	37	4	145635402	145635402	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145635402C>T	ENST00000296575.3	+	9	2104	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein			33	all_hematologic(180;0.151)				TTTTAGAATTCAAGCCATTCA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000296575.3	1	1	hg19	CCDS3762.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	1	0	1	32	160	0	79	0	2.724200e-01	1	5	0	79	2		0	0	0	0	0	2	1	1	31	156	0	78	2								-3.284957	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
HHIP	64399	broad.mit.edu	37	4	145658990	145658990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145658990C>T	ENST00000296575.3	+	13	2639	c.1984C>T	c.(1984-1986)Ctt>Ttt	p.L662F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein			33	all_hematologic(180;0.151)				AAAAGGATATCTTGGTCCTCA	0.448000																								0							SO:0001583	missense			ENST00000296575.3	1	1	hg19	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111178	0.77210	.	.	ENSG00000164161	ENST00000296575	T	0.66995	-0.24	5.61	5.61	0.85477	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.099589	0.64402	D	0.000020	T	0.43344	0.1243	N	0.02539	-0.55	0.80722	D	1	P	0.46020	0.871	B	0.41723	0.365	T	0.57093	-0.7870	10	0.62326	D	0.03	-14.2584	12.9061	0.58154	0.0:0.9257:0.0:0.0743	.	662	Q96QV1	HHIP_HUMAN	F	662	ENSP00000296575:L662F	ENSP00000296575:L662F	L	+	1	0	HHIP	145878440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.512000	0.60469	2.634000	0.89283	0.585000	0.79938	CTT		TCGA-IB-7651-01A-11D-2154-08	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	0	0	0	13	386	0	106	0	0	0	1	0	106	2		0	0	0	0	0	2	1	9.994782e-01	13	377	0	105	2								-12.765220	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.400000	0.220000	1.000000	0.390000	0.441295	0.400000	0	3.000000e-01	5.400000e-01
ABCE1	6059	broad.mit.edu	37	4	146032209	146032209	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146032209G>A	ENST00000296577.4	+	8	1218	c.703G>A	c.(703-705)Gct>Act	p.A235T	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1			18	all_hematologic(180;0.151)				CATACAGAAAGCTGATATGTA	0.358000																								0							SO:0001583	missense			ENST00000296577.4	1	1	hg19	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826680	0.90955	.	.	ENSG00000164163	ENST00000296577	D	0.85339	-1.97	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	L	0.57130	1.785	0.80722	D	1	B	0.31790	0.34	B	0.38683	0.279	D	0.85299	0.1072	10	0.54805	T	0.06	-38.6729	19.6512	0.95812	0.0:0.0:1.0:0.0	.	235	P61221	ABCE1_HUMAN	T	235	ENSP00000296577:A235T	ENSP00000296577:A235T	A	+	1	0	ABCE1	146251659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.712000	0.92718	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	1	0	1	49	220	0	65	1	1	101	202	0	65	2		0	0	0	0	0	2	1	1	49	213	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCE1	6059	broad.mit.edu	37	4	146044705	146044705	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146044705C>T	ENST00000296577.4	+	16	2108	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1			18	all_hematologic(180;0.151)				TAGCGGATCGCGTCATCGTTT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000296577.4	0	1	hg19	CCDS34071.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	1	0	1	29	134	0	23	1	1	50	128	0	23	2		0	0	0	0	0	2	1	1	29	133	0	23	2								-17.677030	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
OTUD4	54726	broad.mit.edu	37	4	146058757	146058757	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146058757C>T	ENST00000447906.2	-	21	3357	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.G992D			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4			33	all_hematologic(180;0.151)				ACCAGAATAGCCCCAATCACT	0.413000																								0							SO:0001583	missense			ENST00000447906.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.11	1.840269	0.32513	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34667	1.36;1.35	6.17	5.29	0.74685	.	0.324146	0.30859	N	0.008727	T	0.26810	0.0656	L	0.29908	0.895	0.80722	D	1	P;P	0.46512	0.879;0.808	B;B	0.40940	0.344;0.186	T	0.01675	-1.1298	10	0.51188	T	0.08	-5.5415	10.4324	0.44415	0.0:0.7961:0.1351:0.0688	.	1057;1056	G3V0I6;Q01804	.;OTUD4_HUMAN	D	992;1057	ENSP00000409279:G992D;ENSP00000395487:G1057D	ENSP00000395487:G1057D	G	-	2	0	OTUD4	146278207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.756000	0.47549	2.941000	0.99782	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	1	0	1	224	975	0	223	1	1	35	91	0	223	2		0	0	0	0	0	2	1	1	220	956	0	222	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTUD4	54726	broad.mit.edu	37	4	146064545	146064545	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146064545T>G	ENST00000447906.2	-	17	1842	c.1655A>C	c.(1654-1656)aAg>aCg	p.K552T	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.K487T			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4			33	all_hematologic(180;0.151)				GCACTCTAACTTCTTTGACTT	0.373000																								0							SO:0001583	missense			ENST00000447906.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.28	2.786624	0.49997	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.33438	1.42;1.41	5.93	5.93	0.95920	.	0.171326	0.42420	D	0.000705	T	0.25606	0.0623	L	0.32530	0.975	0.80722	D	1	B;B	0.14805	0.011;0.007	B;B	0.19391	0.025;0.011	T	0.03818	-1.1001	10	0.37606	T	0.19	-24.0895	12.7861	0.57507	0.0:0.0:0.0:1.0	.	552;551	G3V0I6;Q01804	.;OTUD4_HUMAN	T	487;552	ENSP00000409279:K487T;ENSP00000395487:K552T	ENSP00000395487:K552T	K	-	2	0	OTUD4	146283995	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.639000	0.37176	2.281000	0.76405	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	0	0	0	9	218	0	42	1	7.922667e-01	3	70	0	42	2		0	0	0	0	0	2	1	9.936412e-01	9	211	0	42	2								-11.113140	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.490000	0.240000	1.000000	0.460000	0.533323	0.490000	0	3.500000e-01	7.000000e-01
C4orf51	646603	broad.mit.edu	37	4	146601532	146601532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601532G>A	ENST00000438731.1	+	1	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51			6					AACTGGACAAGTCCATGTGCA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000438731.1	1	1	hg19	CCDS47140.1	.	.	.	.	.	.	.	.	.	.	G	5.403	0.259618	0.10239	.	.	ENSG00000237136	ENST00000511965	.	.	.	6.02	-2.97	0.05530	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	.	1.6016	0.02675	0.1441:0.2135:0.2632:0.3791	.	.	.	.	N	19	.	.	S	+	2	0	C4orf51	146820982	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.837000	0.04377	-0.094000	0.12374	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	55	255	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	53	245	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF827	152485	broad.mit.edu	37	4	146824292	146824292	+	Missense_Mutation	SNP	G	G	A	rs149206051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146824292G>A	ENST00000508784.1	-	2	346	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827			48	all_hematologic(180;0.151)				TGCTTCTGACGGAGTCTCTGA	0.532000																								0							SO:0001583	missense			ENST00000508784.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.39	3.612703	0.66672	0.0	2.33E-4	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09163	3.01;3.05	5.69	5.69	0.88448	.	0.048635	0.85682	D	0.000000	T	0.21022	0.0506	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.62014	0.791;0.897	T	0.01146	-1.1437	10	0.72032	D	0.01	-16.9029	19.8182	0.96579	0.0:0.0:1.0:0.0	.	40;40	Q17R98;Q17R98-2	ZN827_HUMAN;.	L	40;40;39	ENSP00000421863:P40L;ENSP00000368761:P40L	ENSP00000281318:P39L	P	-	2	0	ZNF827	147043742	1.000000	0.71417	0.956000	0.39512	0.958000	0.62258	5.679000	0.68160	2.700000	0.92200	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	0	0	1	101	415	0	117	0	4.132414e-01	0	7	0	117	2		0	0	0	0	0	2	1	1	98	403	0	117	2								-2.626994	1	1	121412	13	43	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POU4F2	5458	broad.mit.edu	37	4	147561405	147561405	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561405G>T	ENST00000281321.3	+	2	923	c.675G>T	c.(673-675)atG>atT	p.M225I	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2			33	all_hematologic(180;0.151)				TGGCCACCATGAACCCCATGC	0.726000																								0							SO:0001583	missense			ENST00000281321.3	1	1	hg19	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163240	0.38217	.	.	ENSG00000151615	ENST00000281321	D	0.82984	-1.67	5.52	5.52	0.82312	.	0.689044	0.16201	N	0.224911	T	0.74473	0.3721	N	0.19112	0.55	0.58432	D	0.999999	B	0.15719	0.014	B	0.14578	0.011	T	0.66697	-0.5858	10	0.21014	T	0.42	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	225	Q12837	PO4F2_HUMAN	I	225	ENSP00000281321:M225I	ENSP00000281321:M225I	M	+	3	0	POU4F2	147780855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.035000	0.57297	2.609000	0.88269	0.462000	0.41574	ATG		TCGA-IB-7651-01A-11D-2154-08	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	1	0	1	25	85	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999999e-01	24	84	0	21	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
POU4F2	5458	broad.mit.edu	37	4	147561477	147561477	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561477C>T	ENST00000281321.3	+	2	995	c.747C>T	c.(745-747)agC>agT	p.S249S	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2			33	all_hematologic(180;0.151)				GCTGCATGAGCGACGTGGACG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000281321.3	1	1	hg19	CCDS34074.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	1	0	1	30	116	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	30	115	0	35	2								-20.000000	1	0	120744	2	27	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PRMT10	0	broad.mit.edu	37	4	148575447	148575447	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148575447T>G	ENST00000322396.6	-	9	1843	c.1601A>C	c.(1600-1602)cAt>cCt	p.H534P	PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN				28					AAAGCCTTCATGATATGGGAT	0.413000																								0							SO:0001583	missense			ENST00000322396.6	1	1	hg19	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122919	0.77436	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.29917	1.55;1.55	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.64237	0.923	T	0.58763	-0.7579	10	0.72032	D	0.01	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	534	Q6P2P2	ANM10_HUMAN	P	534;421	ENSP00000314396:H534P;ENSP00000439508:H421P	ENSP00000314396:H534P	H	-	2	0	PRMT10	148794897	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.374000	0.79633	2.317000	0.78254	0.459000	0.35465	CAT		TCGA-IB-7651-01A-11D-2154-08	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1	1	0	1	120	495	0	110	1	9.839899e-01	9	20	0	110	2		0	0	0	0	0	2	1	1	117	488	0	110	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP10	79658	broad.mit.edu	37	4	148786101	148786101	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148786101G>A	ENST00000336498.3	+	6	830	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10			33	all_hematologic(180;0.151)	Renal(17;0.0166)			TTGAGTTTGTGGAACCTGTGA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000336498.3	1	1	hg19	CCDS34075.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	1	0	1	52	198	0	48	1	9.999770e-01	5	59	0	48	2		0	0	0	0	0	2	1	1	51	190	0	48	2								-3.594600	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPEB2	132864	broad.mit.edu	37	4	15060083	15060083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15060083C>T	ENST00000507071.1	+	8	1252	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q834*|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2			14					GAGCTCAGTTCAGGCACTCAT	0.378000																								0							SO:0001587	stop_gained			ENST00000507071.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	38	7.145599	0.98092	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.228	19.9533	0.97211	0.0:1.0:0.0:0.0	.	.	.	.	X	834;826;807;389;359;367;362;397;376;42	.	ENSP00000259997:Q397X	Q	+	1	0	CPEB2	14669181	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.725000	0.93324	0.585000	0.79938	CAG		TCGA-IB-7651-01A-11D-2154-08	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	1	0	1	51	281	0	75	1	9.529634e-01	5	25	0	75	2		0	0	0	0	0	2	1	1	50	278	0	75	2								-3.326244	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MAB21L2	10586	broad.mit.edu	37	4	151504454	151504454	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504454C>T	ENST00000317605.4	+	1	1378	c.273C>T	c.(271-273)gaC>gaT	p.D91D	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)			21	all_hematologic(180;0.151)				TCGTGGACGACGGCTCGCTGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000317605.4	1	1	hg19	CCDS3774.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	1	0	1	76	381	0	86	0	2.662693e-01	0	6	0	86	2		0	0	0	0	0	2	1	1	76	375	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAB21L2	10586	broad.mit.edu	37	4	151504591	151504591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504591C>T	ENST00000317605.4	+	1	1515	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)			21	all_hematologic(180;0.151)				ACGCTGGTGGCCCAGGCGGTG	0.602000																								0							SO:0001583	missense			ENST00000317605.4	1	1	hg19	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657904	0.88154	.	.	ENSG00000181541	ENST00000317605	T	0.08634	3.07	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01393	-1.1366	10	0.27082	T	0.32	-11.1366	19.4696	0.94958	0.0:1.0:0.0:0.0	.	137	Q9Y586	MB212_HUMAN	V	137	ENSP00000324701:A137V	ENSP00000324701:A137V	A	+	2	0	MAB21L2	151724041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.590000	0.87494	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	1	0	1	124	466	0	97	0	2.859676e-01	0	5	0	97	2		0	0	0	0	0	2	1	1	121	457	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRBA	987	broad.mit.edu	37	4	151511917	151511917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151511917G>A	ENST00000357115.3	-	40	6417	c.6174C>T	c.(6172-6174)ggC>ggT	p.G2058G	LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000507224.1_Silent_p.G2047G|LRBA_ENST00000535741.1_Silent_p.G2047G	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing			91	all_hematologic(180;0.151)				TATCATCATCGCCTTCCAGGA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000357115.3	1	1	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228041	0.22542	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.85	1.01	0.19927	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	1.6732	0.02816	0.243:0.103:0.4426:0.2113	.	.	.	.	V	700	.	.	A	-	2	0	LRBA	151731367	0.966000	0.33281	0.999000	0.59377	0.988000	0.76386	0.059000	0.14322	0.081000	0.16988	0.557000	0.71058	GCG		TCGA-IB-7651-01A-11D-2154-08	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	1	69	268	0	71	1	9.999999e-01	28	68	0	71	2		0	0	0	0	0	2	1	1	67	265	0	70	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRBA	987	broad.mit.edu	37	4	151682954	151682954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151682954C>T	ENST00000357115.3	-	35	5869	c.5626G>A	c.(5626-5628)Gaa>Aaa	p.E1876K	LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K|LRBA_ENST00000535741.1_Missense_Mutation_p.E1876K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing			91	all_hematologic(180;0.151)				TTGACAAGTTCGATAAAAGCA	0.294000																								0							SO:0001583	missense			ENST00000357115.3	1	1	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632454	0.67015	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63913	0.37;0.52;0.38;-0.07	5.09	5.09	0.68999	.	0.060679	0.64402	D	0.000004	T	0.81269	0.4787	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.452;0.996	T	0.82938	-0.0209	10	0.49607	T	0.09	.	18.5067	0.90900	0.0:1.0:0.0:0.0	.	1876;1876	P50851;P50851-2	LRBA_HUMAN;.	K	1876	ENSP00000446299:E1876K;ENSP00000421552:E1876K;ENSP00000349629:E1876K;ENSP00000422180:E1876K	ENSP00000349629:E1876K	E	-	1	0	LRBA	151902404	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.128000	0.77217	2.352000	0.79861	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	1	64	375	0	78	1	9.999998e-01	40	94	0	78	2		0	0	0	0	0	2	1	1	61	364	0	76	2								-3.143525	1	1	121374	1	27	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRBA	987	broad.mit.edu	37	4	151749384	151749384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151749384C>T	ENST00000357115.3	-	30	5362	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T|LRBA_ENST00000535741.1_Missense_Mutation_p.A1707T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing			91	all_hematologic(180;0.151)				TCACCAAGGGCTCCAAGGCAG	0.453000																								0							SO:0001583	missense			ENST00000357115.3	1	1	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399829	0.25291	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56444	0.88;1.03;0.88;0.46	5.72	2.56	0.30785	.	0.684498	0.14058	N	0.344240	T	0.39226	0.1070	L	0.40543	1.245	0.18873	N	0.999989	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.23119	-1.0197	10	0.13470	T	0.59	.	9.7525	0.40483	0.0:0.7331:0.1203:0.1465	.	1707;1707	P50851;P50851-2	LRBA_HUMAN;.	T	1707	ENSP00000446299:A1707T;ENSP00000421552:A1707T;ENSP00000349629:A1707T;ENSP00000422180:A1707T	ENSP00000349629:A1707T	A	-	1	0	LRBA	151968834	0.207000	0.23482	0.992000	0.48379	0.947000	0.59692	0.518000	0.22847	0.743000	0.32719	0.484000	0.47621	GCC		TCGA-IB-7651-01A-11D-2154-08	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	1	75	429	0	111	1	1	55	91	0	111	2		0	0	0	0	0	2	1	1	74	421	0	109	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRBA	987	broad.mit.edu	37	4	151793872	151793872	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151793872C>A	ENST00000357115.3	-	18	2444	c.2201G>T	c.(2200-2202)gGa>gTa	p.G734V	LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000507224.1_Missense_Mutation_p.G734V|LRBA_ENST00000535741.1_Missense_Mutation_p.G734V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing			91	all_hematologic(180;0.151)				TACCCTGATTCCTTCACTTTT	0.308000																								0							SO:0001583	missense			ENST00000357115.3	0	1	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730606	0.69074	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.070125	0.56097	D	0.000027	T	0.76905	0.4053	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.934	T	0.71530	-0.4565	10	0.30078	T	0.28	.	20.0714	0.97726	0.0:1.0:0.0:0.0	.	734;734	P50851;P50851-2	LRBA_HUMAN;.	V	734	ENSP00000446299:G734V;ENSP00000421552:G734V;ENSP00000349629:G734V;ENSP00000422180:G734V	ENSP00000349629:G734V	G	-	2	0	LRBA	152013322	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.761000	0.55242	2.750000	0.94351	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	0	0	0	12	397	0	83	1	4.996135e-01	6	48	0	83	2		0	0	0	0	0	2	1	9.989906e-01	11	387	0	82	2								-3.304970	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.360000	0.190000	1.000000	0.350000	0.405148	0.360000	0	2.600000e-01	5.000000e-01
LRBA	987	broad.mit.edu	37	4	151837610	151837610	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151837610T>C	ENST00000357115.3	-	7	1080	c.837A>G	c.(835-837)atA>atG	p.I279M	LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M|LRBA_ENST00000535741.1_Missense_Mutation_p.I279M	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing			91	all_hematologic(180;0.151)				CTTTTGACTTTATTGATGTTA	0.343000																								0							SO:0001583	missense			ENST00000357115.3	1	1	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626892	0.28978	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.24	0.50183	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.063284	0.64402	D	0.000006	T	0.64249	0.2581	N	0.03608	-0.345	0.39855	D	0.973295	P;D;P	0.53619	0.934;0.961;0.573	P;D;B	0.63283	0.789;0.913;0.392	T	0.63042	-0.6725	10	0.23302	T	0.38	.	8.4306	0.32755	0.1305:0.0:0.1366:0.733	.	279;279;279	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	M	279	ENSP00000446299:I279M;ENSP00000421552:I279M;ENSP00000349629:I279M;ENSP00000422180:I279M	ENSP00000349629:I279M	I	-	3	3	LRBA	152057060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.715000	0.37971	0.974000	0.38366	0.374000	0.22700	ATA		TCGA-IB-7651-01A-11D-2154-08	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	0	7	155	0	30	1	5.592569e-01	3	37	0	30	2		0	0	0	0	0	2	1	9.791061e-01	7	150	0	30	2								-10.487800	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.540000	0.240000	1.000000	1.000000	0.582745	0.540000	0	3.700000e-01	8.000000e-01
SH3D19	152503	broad.mit.edu	37	4	152069321	152069321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152069321G>T	ENST00000409252.2	-	10	1702	c.995C>A	c.(994-996)aCc>aAc	p.T332N	SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N|SH3D19_ENST00000409598.4_Missense_Mutation_p.T332N|SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19			20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			AGTTGGAATGGTTTTTCCATT	0.438000																								0							SO:0001583	missense			ENST00000409252.2	1	1	hg19	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	6.001	0.368597	0.11352	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.69435	-0.4;0.23;-0.4;-0.4;-0.4;0.23;-0.4	5.57	-0.268	0.12934	.	2.146210	0.02286	N	0.069810	T	0.40719	0.1128	N	0.08118	0	0.09310	N	1	B;B;B;P	0.37176	0.246;0.021;0.006;0.586	B;B;B;B	0.30029	0.06;0.004;0.003;0.11	T	0.27706	-1.0066	10	0.14252	T	0.57	3.4621	6.4763	0.22037	0.6693:0.1355:0.1952:0.0	.	332;332;296;110	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	332;332;332;296;296;332;332	ENSP00000387030:T332N;ENSP00000302913:T332N;ENSP00000416708:T332N;ENSP00000404542:T296N;ENSP00000415694:T296N;ENSP00000386848:T332N;ENSP00000423449:T332N	ENSP00000302913:T332N	T	-	2	0	SH3D19	152288771	0.489000	0.26004	0.009000	0.14445	0.060000	0.15804	1.280000	0.33202	-0.275000	0.09219	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	0	0	1	77	324	1	62	1	9.999973e-01	57	136	1	62	12		0	0	0	0	0	2	1	1	75	313	1	62	20								-3.417698	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3D19	152503	broad.mit.edu	37	4	152096417	152096417	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152096417C>A	ENST00000409252.2	-	6	806	c.99G>T	c.(97-99)aaG>aaT	p.K33N	SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N|SH3D19_ENST00000409598.4_Missense_Mutation_p.K33N|SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19			20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			TTTCTGGTTTCTTGGGCAGTC	0.428000																								0							SO:0001583	missense			ENST00000409252.2	1	1	hg19	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349846	0.61183	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26	6.07	4.36	0.52297	.	1.529900	0.03461	N	0.212118	T	0.18045	0.0433	L	0.54323	1.7	0.31061	N	0.714097	B;P;P	0.41232	0.434;0.57;0.743	B;B;P	0.45232	0.218;0.389;0.474	T	0.17289	-1.0374	10	0.72032	D	0.01	-3.7997	12.0101	0.53282	0.0:0.8089:0.0:0.1911	.	33;33;33	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	N	33	ENSP00000387030:K33N;ENSP00000302913:K33N;ENSP00000416708:K33N;ENSP00000404542:K33N;ENSP00000415694:K33N;ENSP00000386848:K33N;ENSP00000423449:K33N	ENSP00000302913:K33N	K	-	3	2	SH3D19	152315867	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.764000	0.26532	0.900000	0.36469	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	1	0	1	143	645	0	136	1	1	88	216	0	136	2		0	0	0	0	0	2	1	1	141	631	0	133	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXW7	55294	broad.mit.edu	37	4	153250829	153250829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153250829C>T	ENST00000281708.4	-	8	2460	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S|FBXW7_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	p.?(1)		462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)			CTTACTTTGCCTGTGACTGCT	0.343000			Mis, N, D, F		colorectal, endometrial, T-ALL										Rec	yes		4	4q31.3	55294	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)		E, L	1	Unknown(1)						SO:0001583	missense			ENST00000281708.4	1	1	hg19	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005164	0.93287	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.997;0.994;0.994	D	0.84899	0.0841	10	0.62326	D	0.03	-13.4447	20.5568	0.99304	0.0:1.0:0.0:0.0	.	235;411;293;331	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	S	411;293;331;235	ENSP00000281708:G411S;ENSP00000296555:G293S;ENSP00000263981:G331S;ENSP00000377528:G235S	ENSP00000263981:G331S	G	-	1	0	FBXW7	153470279	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1	0	0	0	23	234	0	75	1	9.759126e-01	3	61	0	75	2	1	9.999999e-01	27	258	0	231	2	1	9.999995e-01	23	233	0	74	2								-3.318794	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.954188	0.990000	1	8.700000e-01	1
FBXW7	55294	broad.mit.edu	37	4	153258977	153258977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153258977A>G	ENST00000281708.4	-	5	2067	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|RP11-461L13.2_ENST00000605147.1_RNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	p.?(1)		462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)			AATGAAATGAAGTCTCGTTGA	0.343000			Mis, N, D, F		colorectal, endometrial, T-ALL										Rec	yes		4	4q31.3	55294	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)		E, L	1	Unknown(1)						SO:0001583	missense			ENST00000281708.4	1	1	hg19	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552008	0.86127	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.63	5.63	0.86233	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.094416	0.85682	D	0.000000	T	0.69700	0.3140	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.69131	-0.5226	10	0.40728	T	0.16	-15.5855	15.8279	0.78727	1.0:0.0:0.0:0.0	.	104;280;162;200	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	280;162;200;104	ENSP00000281708:F280L;ENSP00000296555:F162L;ENSP00000263981:F200L;ENSP00000377528:F104L	ENSP00000263981:F200L	F	-	1	0	FBXW7	153478427	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.268000	0.95675	2.133000	0.65898	0.528000	0.53228	TTC		TCGA-IB-7651-01A-11D-2154-08	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1	1	0	1	43	228	0	71	1	9.965844e-01	5	44	0	71	2	1	1	82	457	0	443	2	1	1	43	226	0	71	2								-19.994890	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FHDC1	85462	broad.mit.edu	37	4	153896509	153896509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153896509G>A	ENST00000511601.1	+	12	2254	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1		ARFIP1/FHDC1(2)	43	all_hematologic(180;0.093)				GGTTCCCAGGGCATGGAGGAG	0.622000																								0							SO:0001583	missense			ENST00000511601.1	1	1	hg19	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	0.794	-0.757818	0.03019	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.28069	1.63;1.63	5.29	-1.51	0.08664	.	2.486670	0.01025	N	0.004050	T	0.14960	0.0361	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08106	-1.0738	10	0.13108	T	0.6	.	2.6246	0.04926	0.1748:0.4201:0.1915:0.2136	.	689	Q9C0D6	FHDC1_HUMAN	D	689	ENSP00000427567:G689D;ENSP00000260008:G689D	ENSP00000260008:G689D	G	+	2	0	FHDC1	154115959	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.184000	0.09698	-0.619000	0.05648	-1.098000	0.02139	GGC		TCGA-IB-7651-01A-11D-2154-08	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	1	0	1	62	291	0	68	1	8.482740e-01	12	6	0	68	2		0	0	0	0	0	2	1	1	61	286	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FHDC1	85462	broad.mit.edu	37	4	153897279	153897279	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897279C>T	ENST00000511601.1	+	12	3024	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1		ARFIP1/FHDC1(2)	43	all_hematologic(180;0.093)				GAACTCCGTGCGGAGGGCCTC	0.716000																								0							SO:0001583	missense			ENST00000511601.1	1	1	hg19	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485608	0.44147	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41065	1.01;1.01	5.7	-11.4	0.00090	.	7.299360	0.01545	U	0.019398	T	0.51770	0.1694	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	P	0.56088	0.791	T	0.69363	-0.5165	10	0.62326	D	0.03	.	27.3211	0.99998	0.1909:0.8091:0.0:0.0	.	946	Q9C0D6	FHDC1_HUMAN	W	946	ENSP00000427567:R946W;ENSP00000260008:R946W	ENSP00000260008:R946W	R	+	1	2	FHDC1	154116729	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	-2.584000	0.00460	-1.014000	0.02459	CGG		TCGA-IB-7651-01A-11D-2154-08	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	1	0	1	24	170	0	33	1	2.705108e-01	3	5	0	33	2		0	0	0	0	0	2	1	9.999998e-01	24	169	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.997617	0.990000	1	9.900000e-01	1
FHDC1	85462	broad.mit.edu	37	4	153897796	153897796	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897796C>A	ENST00000511601.1	+	12	3541	c.3353C>A	c.(3352-3354)gCt>gAt	p.A1118D	FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1		ARFIP1/FHDC1(2)	43	all_hematologic(180;0.093)				GCCAGAGGGGCTGGGGAAAGG	0.657000																								0							SO:0001583	missense			ENST00000511601.1	1	1	hg19	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001636	0.35320	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.32515	1.45;1.45	5.42	-1.08	0.09936	.	1.740290	0.02777	N	0.120404	T	0.19846	0.0477	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20009	-1.0288	10	0.45353	T	0.12	.	4.6293	0.12493	0.2264:0.3667:0.0:0.4069	.	1118	Q9C0D6	FHDC1_HUMAN	D	1118	ENSP00000427567:A1118D;ENSP00000260008:A1118D	ENSP00000260008:A1118D	A	+	2	0	FHDC1	154117246	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.058000	0.14301	-0.286000	0.09076	-0.181000	0.13052	GCT		TCGA-IB-7651-01A-11D-2154-08	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	1	0	0	24	76	0	18	1	7.315884e-01	3	7	0	18	2		0	0	0	0	0	2	1	9.999999e-01	24	75	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TRIM2	23321	broad.mit.edu	37	4	154216605	154216605	+	Silent	SNP	C	C	T	rs142242737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216605C>T	ENST00000437508.2	+	6	1047	c.846C>T	c.(844-846)aaC>aaT	p.N282N	TRIM2_ENST00000338700.5_Silent_p.N309N|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2			19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)			AGAAGCTGAACGAGCTGGCCG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000437508.2	1	1	hg19	CCDS47147.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	0	18	198	0	44	1	8.328627e-01	3	35	0	44	2		0	0	0	0	0	2	1	9.999843e-01	19	195	0	44	2								-19.999930	1	1	121412	4	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.610000	1.000000	1.000000	0.921827	0.990000	1	7.900000e-01	1
TRIM2	23321	broad.mit.edu	37	4	154216729	154216729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216729G>A	ENST00000437508.2	+	6	1171	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TRIM2_ENST00000338700.5_Missense_Mutation_p.V351I|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2			19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)			CACCAACGCCGTTGCCTCAGA	0.607000																								0							SO:0001583	missense			ENST00000437508.2	1	1	hg19	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821247	0.32237	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84944	-1.92;-1.92	5.53	4.68	0.58851	.	0.101717	0.64402	D	0.000002	T	0.78349	0.4269	L	0.46885	1.475	0.53688	D	0.999973	P;P	0.42973	0.796;0.646	B;B	0.32090	0.14;0.071	T	0.77800	-0.2452	10	0.33141	T	0.24	-1.7556	15.9934	0.80223	0.0:0.0:0.8641:0.1359	.	351;324	D3DP09;Q9C040	.;TRIM2_HUMAN	I	324;351	ENSP00000415812:V324I;ENSP00000339659:V351I	ENSP00000339659:V351I	V	+	1	0	TRIM2	154436179	1.000000	0.71417	0.860000	0.33809	0.842000	0.47809	7.505000	0.81655	1.443000	0.47586	0.561000	0.74099	GTT		TCGA-IB-7651-01A-11D-2154-08	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	1	58	186	0	50	1	9.999414e-01	21	29	0	50	2		0	0	0	0	0	2	1	1	57	182	0	50	2								-20.000000	1	1	121412	1	28	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM2	23321	broad.mit.edu	37	4	154216846	154216846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216846G>A	ENST00000437508.2	+	6	1288	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	TRIM2_ENST00000338700.5_Missense_Mutation_p.A390T|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2			19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)			AACCGGCAACGCCTACCTCAC	0.617000																								0							SO:0001583	missense			ENST00000437508.2	1	1	hg19	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189461	0.94923	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84589	-1.87;-1.87	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.091921	0.85682	D	0.000000	D	0.93458	0.7913	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.979	D;P	0.80764	0.994;0.525	D	0.92425	0.5949	10	0.33940	T	0.23	-0.104	19.2934	0.94112	0.0:0.0:1.0:0.0	.	390;363	D3DP09;Q9C040	.;TRIM2_HUMAN	T	363;390	ENSP00000415812:A363T;ENSP00000339659:A390T	ENSP00000339659:A390T	A	+	1	0	TRIM2	154436296	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.375000	0.97178	2.641000	0.89580	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	1	40	223	0	52	1	9.948355e-01	23	25	0	52	2		0	0	0	0	0	2	1	1	39	218	0	51	2								-20.000000	1	0	121412	1	26	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
TRIM2	23321	broad.mit.edu	37	4	154216921	154216921	+	Missense_Mutation	SNP	A	A	G	rs111861590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216921A>G	ENST00000437508.2	+	6	1363	c.1162A>G	c.(1162-1164)Acc>Gcc	p.T388A	TRIM2_ENST00000338700.5_Missense_Mutation_p.T415A|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2			19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)			CAAGAACGGCACCTATGAGTT	0.567000																								0							SO:0001583	missense			ENST00000437508.2	1	1	hg19	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426009	0.83667	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.87887	-2.31;-2.31	5.59	5.59	0.84812	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.043072	0.85682	D	0.000000	D	0.94860	0.8339	M	0.92077	3.27	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.74348	0.983;0.983	D	0.95673	0.8725	10	0.59425	D	0.04	-13.6538	15.7668	0.78131	1.0:0.0:0.0:0.0	.	415;388	D3DP09;Q9C040	.;TRIM2_HUMAN	A	388;415	ENSP00000415812:T388A;ENSP00000339659:T415A	ENSP00000339659:T415A	T	+	1	0	TRIM2	154436371	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.867000	0.92314	2.134000	0.65973	0.459000	0.35465	ACC		TCGA-IB-7651-01A-11D-2154-08	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	1	52	301	0	63	1	9.983182e-01	27	31	0	63	2		0	0	0	0	0	2	1	1	52	293	0	63	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TRIM2	23321	broad.mit.edu	37	4	154217082	154217082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154217082G>A	ENST00000437508.2	+	6	1524	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	TRIM2_ENST00000338700.5_Silent_p.P468P|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2			19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)			TTAAGTCCCCGGGGAGCGGCC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000437508.2	1	1	hg19	CCDS47147.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1	1	0	1	45	243	0	65	1	9.994083e-01	23	40	0	65	2		0	0	0	0	0	2	1	9.999878e-01	44	238	1	65	15								-2.634124	1	1	121404	2	35	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
C1QTNF7	114905	broad.mit.edu	37	4	15437372	15437372	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15437372T>G	ENST00000444304.2	+	2	331	c.5T>G	c.(4-6)tTt>tGt	p.F2C	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.F9C|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7			16					CCAAAGATGTTTGTCTTGCTC	0.448000																								0							SO:0001583	missense			ENST00000444304.2	1	1	hg19	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219555	0.58560	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.91843	-2.92;-2.62;-2.79;-2.56;-2.56	5.54	5.54	0.83059	.	0.356883	0.33092	N	0.005299	D	0.86904	0.6045	N	0.24115	0.695	0.34774	D	0.733995	P	0.46277	0.875	B	0.40602	0.334	D	0.91376	0.5123	10	0.52906	T	0.07	.	15.9843	0.80138	0.0:0.0:0.0:1.0	.	2	Q9BXJ2	C1QT7_HUMAN	C	9;9;2;2;2	ENSP00000380812:F9C;ENSP00000295297:F9C;ENSP00000371820:F2C;ENSP00000410722:F2C;ENSP00000388914:F2C	ENSP00000295297:F9C	F	+	2	0	C1QTNF7	15046470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.025000	0.64097	2.228000	0.72767	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2	1	0	0	16	297	0	67	0	2.342059e-01	0	17	0	67	2		0	0	0	0	0	2	1	9.999304e-01	16	292	0	67	2								-4.965303	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.620000	0.360000	1.000000	0.590000	0.648913	0.620000	0	4.800000e-01	8.100000e-01
KIAA0922	23240	broad.mit.edu	37	4	154523409	154523409	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154523409A>G	ENST00000409663.3	+	22	2421	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	KIAA0922_ENST00000440693.1_Missense_Mutation_p.N707S|KIAA0922_ENST00000409959.3_Missense_Mutation_p.N791S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922			63	all_hematologic(180;0.093)	Renal(120;0.118)			AATGGGTATAACTGCCAAGGT	0.383000																								0							SO:0001583	missense			ENST00000409663.3	0	1	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	6.899	0.535347	0.13188	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16597	2.6;2.33;2.6;2.33	5.81	4.62	0.57501	.	0.232813	0.50627	N	0.000115	T	0.07007	0.0178	N	0.10837	0.055	0.29994	N	0.81661	P;B;B	0.34412	0.453;0.021;0.004	B;B;B	0.33196	0.159;0.032;0.006	T	0.21965	-1.0230	10	0.07325	T	0.83	-20.898	6.483	0.22073	0.7169:0.0:0.2831:0.0	.	707;791;790	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	S	790;707;791;568	ENSP00000386574:N790S;ENSP00000409663:N707S;ENSP00000386787:N791S;ENSP00000240487:N568S	ENSP00000240487:N568S	N	+	2	0	KIAA0922	154742859	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	2.583000	0.46094	1.014000	0.39417	-0.290000	0.09829	AAC		TCGA-IB-7651-01A-11D-2154-08	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	0	0	0	17	818	0	135	0	3.656548e-02	0	14	0	135	2		0	0	0	0	0	2	1	9.999611e-01	16	810	0	135	2								-3.100779	1	1	121412	2	39	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.240000	0.140000	1.000000	0.240000	0.294718	0.240000	0	1.900000e-01	3.300000e-01
KIAA0922	23240	broad.mit.edu	37	4	154525552	154525552	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154525552G>T	ENST00000409663.3	+	25	3437	c.3385G>T	c.(3385-3387)Gac>Tac	p.D1129Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y|KIAA0922_ENST00000409959.3_Missense_Mutation_p.D1130Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922			63	all_hematologic(180;0.093)	Renal(120;0.118)			CCACCAGCCAGACTTGCCAGA	0.428000																								0							SO:0001583	missense			ENST00000409663.3	1	1	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463610	0.43736	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.21361	2.29;2.01;2.29;2.02	5.98	5.14	0.70334	.	0.492803	0.23396	N	0.048640	T	0.40372	0.1114	L	0.47716	1.5	0.40617	D	0.98172	D;D;D	0.89917	1.0;0.99;0.983	D;D;P	0.75484	0.986;0.913;0.822	T	0.30851	-0.9964	10	0.72032	D	0.01	-16.3091	14.9496	0.71060	0.0682:0.0:0.9318:0.0	.	1046;1130;1129	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1129;1046;1130;907	ENSP00000386574:D1129Y;ENSP00000409663:D1046Y;ENSP00000386787:D1130Y;ENSP00000240487:D907Y	ENSP00000240487:D907Y	D	+	1	0	KIAA0922	154745002	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.047000	0.64232	1.531000	0.49152	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	1	0	0	55	562	0	122	1	7.612187e-01	3	27	0	122	2		0	0	0	0	0	2	1	1	51	554	0	122	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.974044	0.990000	1	9.200000e-01	1
KIAA0922	23240	broad.mit.edu	37	4	154553974	154553974	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154553974G>A	ENST00000409663.3	+	32	4361	c.4309G>A	c.(4309-4311)Gcc>Acc	p.A1437T	KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T|KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1438T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922			63	all_hematologic(180;0.093)	Renal(120;0.118)			TCAGGAGTCGGCCCCGGTTCA	0.512000																								0							SO:0001583	missense			ENST00000409663.3	1	1	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716702	0.15306	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18174	2.5;2.23;2.5;2.23	5.09	1.23	0.21249	.	0.662406	0.15768	N	0.245617	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	P;B;B	0.35011	0.48;0.035;0.021	B;B;B	0.27715	0.082;0.009;0.004	T	0.32455	-0.9906	10	0.02654	T	1	-0.261	11.6361	0.51204	0.0919:0.4304:0.4776:0.0	.	1354;1438;1437	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	T	1437;1354;1438;1215	ENSP00000386574:A1437T;ENSP00000409663:A1354T;ENSP00000386787:A1438T;ENSP00000240487:A1215T	ENSP00000240487:A1215T	A	+	1	0	KIAA0922	154773424	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.780000	0.26760	-0.099000	0.12263	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	1	0	1	71	295	0	75	1	9.826254e-01	3	25	0	75	2		0	0	0	0	0	2	1	1	70	287	0	75	2								-3.545649	1	1	121412	1	23	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0922	23240	broad.mit.edu	37	4	154557648	154557648	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154557648C>A	ENST00000409663.3	+	35	4802	c.4750C>A	c.(4750-4752)Ctg>Atg	p.L1584M	KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M|KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1585M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922			63	all_hematologic(180;0.093)	Renal(120;0.118)			CTATATGAACCTGGACATATG	0.468000																								0							SO:0001583	missense			ENST00000409663.3	1	1	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766502	0.69878	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.37915	1.43;1.17;1.43;1.19	5.93	5.09	0.68999	.	0.000000	0.64402	D	0.000002	T	0.44644	0.1303	L	0.27053	0.805	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.45629	-0.9248	10	0.87932	D	0	-12.7261	9.5794	0.39479	0.0:0.8025:0.0:0.1975	.	1501;1585;1584	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	1584;1501;1585;1362	ENSP00000386574:L1584M;ENSP00000409663:L1501M;ENSP00000386787:L1585M;ENSP00000240487:L1362M	ENSP00000240487:L1362M	L	+	1	2	KIAA0922	154777098	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.719000	0.47244	1.509000	0.48786	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	0	0	0	16	433	0	80	0	6.029820e-01	1	54	0	80	2		0	0	0	0	0	2	1	9.999282e-01	16	427	0	78	2								-3.172572	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.430000	0.250000	1.000000	0.410000	0.472561	0.430000	0	3.300000e-01	5.700000e-01
TLR2	7097	broad.mit.edu	37	4	154624431	154624431	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154624431T>A	ENST00000260010.6	+	1	1780	c.372T>A	c.(370-372)tcT>tcA	p.S124S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2			29	all_hematologic(180;0.093)	Renal(120;0.117)		OspA lipoprotein(DB00045)	AGCCCCTTTCTTCTTTAACAT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000260010.6	0	1	hg19	CCDS3784.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1	0	0	0	7	267	0	54	0	8.563712e-01	0	136	0	54	2		0	0	0	0	0	2	1	9.802115e-01	7	264	0	54	2								-8.115815	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.320000	0.140000	1.000000	0.300000	0.374104	0.320000	0	2.200000e-01	4.900000e-01
TLR2	7097	broad.mit.edu	37	4	154625213	154625213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154625213C>T	ENST00000260010.6	+	1	2562	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2			29	all_hematologic(180;0.093)	Renal(120;0.117)		OspA lipoprotein(DB00045)	TGTGAGGATGCCTGGCCCTCT	0.348000																								0							SO:0001583	missense			ENST00000260010.6	1	1	hg19	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515517	0.27123	.	.	ENSG00000137462	ENST00000260010	T	0.21932	1.98	6.06	4.33	0.51752	.	0.194642	0.45361	D	0.000372	T	0.26521	0.0648	M	0.70595	2.14	0.38589	D	0.950384	P	0.36660	0.564	B	0.29176	0.099	T	0.23226	-1.0194	10	0.72032	D	0.01	.	18.8242	0.92109	0.0:0.7436:0.2564:0.0	.	385	O60603	TLR2_HUMAN	V	385	ENSP00000260010:A385V	ENSP00000260010:A385V	A	+	2	0	TLR2	154844663	0.001000	0.12720	0.966000	0.40874	0.974000	0.67602	-0.234000	0.09028	0.873000	0.35799	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1	1	0	1	58	196	0	56	0	1	0	120	0	56	2		0	0	0	0	0	2	1	1	56	189	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFRP2	6423	broad.mit.edu	37	4	154702681	154702681	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154702681G>A	ENST00000274063.4	-	3	1094	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2			16	all_hematologic(180;0.093)	Renal(120;0.117)			TCACCGAGGTGATCACCAGCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000274063.4	1	1	hg19	CCDS34082.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1	1	0	1	69	287	0	51	0	1	0	1997	0	51	2		0	0	0	0	0	2	1	1	67	281	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155155914	155155914	+	Missense_Mutation	SNP	G	G	A	rs61746111	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155155914G>A	ENST00000357232.4	-	25	8524	c.8525C>T	c.(8524-8526)cCg>cTg	p.P2842L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			GTTTACTGCCGGCATTCTTGG	0.512000																								0							SO:0001583	missense			ENST00000357232.4	1	0	hg19	CCDS3785.1	20	0.009157509157509158	17	0.034552845528455285	3	0.008287292817679558	0	0.0	0	0.0	G	19.47	3.833634	0.71258	0.040626	1.16E-4	ENSG00000197410	ENST00000357232	T	0.57107	0.42	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.45236	0.1332	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66221	-0.5978	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	2842	Q6V1P9	PCD23_HUMAN	L	2842	ENSP00000349768:P2842L	ENSP00000349768:P2842L	P	-	2	0	DCHS2	155375364	1.000000	0.71417	0.985000	0.45067	0.066000	0.16364	6.741000	0.74837	2.798000	0.96311	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	0	0	1	166	649	1	147	0	1.875830e-01	0	4	1	147	2		0	0	0	0	0	2	1	1	160	629	1	144	19								-2.292112	0	1	121408	437	62	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155156624	155156624	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156624G>A	ENST00000357232.4	-	25	7814	c.7815C>T	c.(7813-7815)aaC>aaT	p.N2605N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			GGACCACCTCGTTACTGCAGT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000357232.4	1	1	hg19	CCDS3785.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	98	479	0	97	0	7.819071e-02	0	3	0	97	2		0	0	0	0	0	2	1	1	94	471	0	97	2								-20.000000	1	0	121412	2	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155156635	155156635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156635C>T	ENST00000357232.4	-	25	7803	c.7804G>A	c.(7804-7806)Gac>Aac	p.D2602N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			TTACTGCAGTCGTCAGTTTTC	0.448000																								0							SO:0001583	missense			ENST00000357232.4	1	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	2.701	-0.271019	0.05716	2.27E-4	0.0	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.6	4.76	0.60689	.	0.640826	0.15264	N	0.271617	T	0.32882	0.0844	L	0.34521	1.04	0.23243	N	0.998056	B	0.26602	0.154	B	0.14023	0.01	T	0.15492	-1.0435	10	0.19147	T	0.46	.	9.2146	0.37339	0.0:0.7928:0.0:0.2072	.	2602	Q6V1P9	PCD23_HUMAN	N	2602	ENSP00000349768:D2602N	ENSP00000349768:D2602N	D	-	1	0	DCHS2	155376085	0.001000	0.12720	0.008000	0.14137	0.043000	0.13939	1.139000	0.31504	1.373000	0.46208	0.467000	0.42956	GAC		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	111	483	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	1	107	476	0	93	2								-20.000000	1	0	121410	2	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155157313	155157313	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157313T>G	ENST00000357232.4	-	25	7125	c.7126A>C	c.(7126-7128)Aca>Cca	p.T2376P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			ATATCCCCTGTCAAAGGGTCA	0.418000																								0							SO:0001583	missense			ENST00000357232.4	1	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244831	0.59103	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.6	4.41	0.53225	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.81029	0.4738	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85767	0.1353	10	0.59425	D	0.04	.	12.3787	0.55295	0.1262:0.0:0.0:0.8737	.	2376	Q6V1P9	PCD23_HUMAN	P	2376	ENSP00000349768:T2376P	ENSP00000349768:T2376P	T	-	1	0	DCHS2	155376763	1.000000	0.71417	0.418000	0.26571	0.755000	0.42902	4.059000	0.57470	1.038000	0.40049	0.460000	0.39030	ACA		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	51	451	0	113	0	1.082823e-02	0	2	0	113	2		0	0	0	0	0	2	1	1	51	444	0	112	2								-16.856880	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.910000	1.000000	1.000000	0.994788	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155157462	155157462	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157462T>G	ENST00000357232.4	-	25	6976	c.6977A>C	c.(6976-6978)aAt>aCt	p.N2326T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			AATAGGCAGATTTTCTGGAAC	0.393000																								0							SO:0001583	missense			ENST00000357232.4	1	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612391	0.46631	.	.	ENSG00000197410	ENST00000357232	T	0.25414	1.8	5.68	5.68	0.88126	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.56688	0.2002	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63778	-0.6560	10	0.72032	D	0.01	.	15.9379	0.79729	0.0:0.0:0.0:1.0	.	2326	Q6V1P9	PCD23_HUMAN	T	2326	ENSP00000349768:N2326T	ENSP00000349768:N2326T	N	-	2	0	DCHS2	155376912	1.000000	0.71417	0.921000	0.36526	0.010000	0.07245	6.287000	0.72671	2.151000	0.67156	0.523000	0.50628	AAT		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	97	443	0	98	0	3.284449e-02	0	2	0	98	2		0	0	0	0	0	2	1	1	96	430	0	98	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155219556	155219556	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155219556A>C	ENST00000357232.4	-	18	4544	c.4545T>G	c.(4543-4545)taT>taG	p.Y1515*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			CAGTCAGAAAATACTCAGTTT	0.478000																								0							SO:0001587	stop_gained			ENST00000357232.4	0	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	43	9.909025	0.99293	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.76	0.333	0.15943	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3991	0.32574	0.5243:0.0:0.4757:0.0	.	.	.	.	X	1515	.	ENSP00000349768:Y1515X	Y	-	3	2	DCHS2	155439006	1.000000	0.71417	0.490000	0.27465	0.763000	0.43281	1.913000	0.39956	0.191000	0.20236	0.528000	0.53228	TAT		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	122	472	0	105	0	1.911652e-01	0	4	0	105	2		0	0	0	0	0	2	1	1	120	462	0	103	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155241935	155241935	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155241935C>A	ENST00000357232.4	-	14	3250	c.3251G>T	c.(3250-3252)gGc>gTc	p.G1084V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			CAAAAAACTGCCGTCATCATC	0.448000																								0							SO:0001583	missense			ENST00000357232.4	1	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722369	0.68959	.	.	ENSG00000197410	ENST00000357232	T	0.61158	0.13	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81168	0.4766	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82794	-0.0281	10	0.52906	T	0.07	.	19.8145	0.96560	0.0:1.0:0.0:0.0	.	1084	Q6V1P9	PCD23_HUMAN	V	1084	ENSP00000349768:G1084V	ENSP00000349768:G1084V	G	-	2	0	DCHS2	155461385	1.000000	0.71417	0.935000	0.37517	0.467000	0.32768	7.487000	0.81328	2.683000	0.91414	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	148	581	0	161	0	4.154105e-02	0	2	0	161	2		0	0	0	0	0	2	1	1	148	574	0	161	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155253943	155253943	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155253943C>T	ENST00000357232.4	-	9	1919	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Silent_p.T1139T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			AAATCCAGCCCGTGTAAGGGC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000357232.4	1	1	hg19	CCDS3785.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	0	0	1	71	253	1	59		0	0	0	1	59	2		0	0	0	0	0	2	1	1	69	249	1	58	18								-3.181372	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155254182	155254182	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254182C>T	ENST00000357232.4	-	9	1680	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			TGAGGATGCACGCCTTGGTCC	0.612000																								0							SO:0001583	missense			ENST00000357232.4	1	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225699	0.39300	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.52057	0.68;0.68	5.73	-2.6	0.06190	Cadherin (4);Cadherin-like (1);	1.191250	0.06159	N	0.675671	T	0.33933	0.0880	L	0.41356	1.27	0.09310	N	0.999999	P;P	0.36110	0.537;0.476	B;B	0.31686	0.125;0.134	T	0.23368	-1.0190	10	0.44086	T	0.13	.	7.315	0.26495	0.0:0.1804:0.3299:0.4897	.	1060;561	E9PC11;Q6V1P9	.;PCD23_HUMAN	M	561;1060;1060	ENSP00000349768:V561M;ENSP00000345062:V1060M	ENSP00000345062:V1060M	V	-	1	0	DCHS2	155473632	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.289000	0.08365	-0.723000	0.04915	-0.136000	0.14681	GTG		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	77	283	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	76	279	0	75	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155254359	155254359	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254359C>T	ENST00000357232.4	-	9	1503	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			TCCGCACGTGCGAGGTACAAG	0.597000																								0							SO:0001583	missense			ENST00000357232.4	1	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048405	0.75846	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.51817	0.69;0.69	5.6	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.198922	0.33005	N	0.005383	T	0.67002	0.2847	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66666	-0.5866	10	0.33141	T	0.24	.	14.2287	0.65877	0.0:0.9285:0.0:0.0715	.	1001;502	E9PC11;Q6V1P9	.;PCD23_HUMAN	T	502;1001;1001	ENSP00000349768:A502T;ENSP00000345062:A1001T	ENSP00000345062:A1001T	A	-	1	0	DCHS2	155473809	1.000000	0.71417	0.020000	0.16555	0.653000	0.38743	6.018000	0.70811	1.366000	0.46076	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	0	25	301	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.999998e-01	25	295	0	51	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.920000	0.610000	1.000000	1.000000	0.891669	0.920000	1	7.500000e-01	1
DCHS2	54798	broad.mit.edu	37	4	155254428	155254428	+	Missense_Mutation	SNP	C	C	A	rs72966167	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254428C>A	ENST00000357232.4	-	9	1434	c.1435G>T	c.(1435-1437)Gcg>Tcg	p.A479S	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A978S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			CTGAGGAACGCTGGGTGGTTG	0.602000																								0							SO:0001583	missense			ENST00000357232.4	1	0	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236531	0.39498	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60920	0.15;0.15	5.63	1.44	0.22558	Cadherin (2);Cadherin-like (1);	1.665360	0.03486	N	0.215819	T	0.42653	0.1212	N	0.12920	0.275	0.19300	N	0.999973	B;B	0.24533	0.025;0.105	B;B	0.21708	0.022;0.036	T	0.28332	-1.0047	10	0.24483	T	0.36	.	10.6812	0.45815	0.0:0.6636:0.0:0.3364	.	978;479	E9PC11;Q6V1P9	.;PCD23_HUMAN	S	479;978;978	ENSP00000349768:A479S;ENSP00000345062:A978S	ENSP00000345062:A978S	A	-	1	0	DCHS2	155473878	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.985000	0.29578	0.341000	0.23771	-0.244000	0.11960	GCG		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	0	20	473	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	9.999948e-01	20	467	0	75	2								-19.187860	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.490000	0.300000	1.000000	0.480000	0.525308	0.490000	0	3.900000e-01	6.300000e-01
DCHS2	54798	broad.mit.edu	37	4	155298572	155298572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155298572C>T	ENST00000357232.4	-	3	258	c.259G>A	c.(259-261)Gga>Aga	p.G87R	DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			CCATAGAGTCCTGAATCTGCA	0.433000																								0							SO:0001583	missense			ENST00000357232.4	1	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649025	0.87958	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.66280	0.47;-0.2	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000010	D	0.87010	0.6071	H	0.96889	3.9	0.80722	D	1	P;D	0.89917	0.889;1.0	P;D	0.85130	0.716;0.997	D	0.90962	0.4813	10	0.87932	D	0	.	19.3129	0.94198	0.0:1.0:0.0:0.0	.	693;87	E9PC11;Q6V1P9	.;PCD23_HUMAN	R	87;693;693	ENSP00000349768:G87R;ENSP00000345062:G693R	ENSP00000345062:G693R	G	-	1	0	DCHS2	155518022	0.981000	0.34729	0.921000	0.36526	0.897000	0.52465	5.216000	0.65246	2.664000	0.90586	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	43	150	0	33	0	5.127940e-02	0	2	0	33	2		0	0	0	0	0	2	1	1	40	147	0	33	2								-3.721180	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CC2D2A	57545	broad.mit.edu	37	4	15534870	15534870	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15534870G>T	ENST00000503292.1	+	15	1701	c.1521G>T	c.(1519-1521)aaG>aaT	p.K507N	CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000424120.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A			32					CATTGCTTAAGACTATCATAA	0.323000																								0							SO:0001583	missense			ENST00000503292.1	0	1	hg19	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631078	0.67015	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	D;D;T;D;D	0.84730	-1.88;-1.88;-0.31;-1.88;-1.89	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.90607	0.7055	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.89871	0.4023	10	0.51188	T	0.08	.	9.6005	0.39601	0.2355:0.0:0.7645:0.0	.	507;458	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	507;507;458;458;507;507;458	ENSP00000403465:K507N;ENSP00000398391:K507N;ENSP00000422875:K507N;ENSP00000421809:K507N;ENSP00000374303:K458N	ENSP00000374303:K458N	K	+	3	2	CC2D2A	15143968	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.636000	0.37144	1.193000	0.43086	0.557000	0.71058	AAG		TCGA-IB-7651-01A-11D-2154-08	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	1	0	0	11	72	0	18	0	5.891756e-01	0	14	0	18	2		0	0	0	0	0	2	1	9.987199e-01	11	72	0	18	2								-18.913150	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.840000	1.000000	1.000000	0.990623	0.990000	1	9.900000e-01	1
PLRG1	5356	broad.mit.edu	37	4	155465619	155465619	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155465619T>C	ENST00000499023.2	-	7	698	c.572A>G	c.(571-573)cAc>cGc	p.H191R	RNU6-1285P_ENST00000363480.1_RNA|PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R|PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1			22	all_hematologic(180;0.215)	Renal(120;0.0854)			CCACGGTGGGTGCCACTGGGG	0.423000																								0							SO:0001583	missense			ENST00000499023.2	1	1	hg19	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667238	0.88251	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.80824	-1.42;-1.42;-1.42	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	L	0.51422	1.61	0.80722	D	1	P;B	0.39404	0.672;0.199	B;P	0.49387	0.283;0.609	D	0.84188	0.0443	10	0.56958	D	0.05	-12.8404	16.5494	0.84464	0.0:0.0:0.0:1.0	.	182;191	O43660-2;O43660	.;PLRG1_HUMAN	R	191;191;182;189	ENSP00000424417:H191R;ENSP00000377483:H191R;ENSP00000303191:H182R	ENSP00000303191:H182R	H	-	2	0	PLRG1	155685069	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	CAC		TCGA-IB-7651-01A-11D-2154-08	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	1	0	1	63	224	0	55	1	1	37	120	0	55	2		0	0	0	0	0	2	1	1	61	218	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGB	2244	broad.mit.edu	37	4	155490440	155490440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490440G>T	ENST00000302068.4	+	6	1002	c.939G>T	c.(937-939)aaG>aaT	p.K313N	FGB_ENST00000509493.1_Missense_Mutation_p.K94N|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain			34	all_hematologic(180;0.215)	Renal(120;0.0458)		Sucralfate(DB00364)	CAGATGGGAAGAATTACTGTG	0.378000													NSCLC(106;1133 1613 21870 46110 52656)											0							SO:0001583	missense			ENST00000302068.4	1	1	hg19	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099002	0.37048	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.81163	-1.46;-1.46	5.67	-2.43	0.06522	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	M	0.78223	2.4	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87404	0.2371	10	0.87932	D	0	.	14.6258	0.68621	0.3111:0.0:0.6889:0.0	.	296;313	B4E1D3;P02675	.;FIBB_HUMAN	N	313;296;94	ENSP00000306099:K313N;ENSP00000426757:K94N	ENSP00000306099:K313N	K	+	3	2	FGB	155709890	0.585000	0.26774	0.512000	0.27736	0.144000	0.21451	-0.021000	0.12504	-0.316000	0.08690	-0.302000	0.09304	AAG		TCGA-IB-7651-01A-11D-2154-08	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	1	0	0	50	578	1	110	0	6.671195e-03	0	2	1	110	2		0	0	0	0	0	2	1	9.999600e-01	49	567	1	110	19								-12.718360	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.950000	0.710000	1.000000	1.000000	0.924572	0.950000	1	8.200000e-01	1
FGB	2244	broad.mit.edu	37	4	155490772	155490772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490772C>A	ENST00000302068.4	+	7	1128	c.1065C>A	c.(1063-1065)caC>caA	p.H355Q	FGB_ENST00000509493.1_Missense_Mutation_p.H136Q|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain			34	all_hematologic(180;0.215)	Renal(120;0.0458)		Sucralfate(DB00364)	TAAAGGCTCACTATGGAGGAT	0.438000													NSCLC(106;1133 1613 21870 46110 52656)											0							SO:0001583	missense			ENST00000302068.4	1	1	hg19	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.347836	0.00219	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.75821	-0.97;-0.97	5.53	-0.582	0.11709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.679797	0.15903	N	0.239000	T	0.31071	0.0785	N	0.00750	-1.22	0.21220	N	0.999751	B;B	0.17038	0.02;0.003	B;B	0.12837	0.008;0.005	T	0.31530	-0.9940	10	0.07990	T	0.79	.	0.5293	0.00626	0.3762:0.1746:0.1239:0.3253	.	338;355	B4E1D3;P02675	.;FIBB_HUMAN	Q	355;338;136	ENSP00000306099:H355Q;ENSP00000426757:H136Q	ENSP00000306099:H355Q	H	+	3	2	FGB	155710222	0.000000	0.05858	0.140000	0.22221	0.075000	0.17131	-1.869000	0.01643	-0.011000	0.14247	-0.961000	0.02630	CAC		TCGA-IB-7651-01A-11D-2154-08	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	1	0	1	79	343	0	96	0	3.914905e-01	1	6	0	96	2		0	0	0	0	0	2	1	1	78	332	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGA	2243	broad.mit.edu	37	4	155505940	155505940	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155505940C>T	ENST00000302053.3	-	6	2015	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain			73	all_hematologic(180;0.215)	Renal(120;0.0458)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTGAAAATGCCACTTTGGGT	0.378000													NSCLC(143;340 1922 20892 22370 48145)											0							SO:0001583	missense			ENST00000302053.3	1	1	hg19	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770217	0.69992	.	.	ENSG00000171560	ENST00000302053	D	0.98987	-5.3	5.46	4.63	0.57726	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044035	0.85682	D	0.000000	D	0.98972	0.9650	M	0.82433	2.59	0.80722	D	1	P	0.46277	0.875	P	0.53988	0.739	D	0.98824	1.0748	10	0.62326	D	0.03	.	14.4471	0.67359	0.0:0.9288:0.0:0.0712	.	646	P02671	FIBA_HUMAN	D	646	ENSP00000306361:G646D	ENSP00000306361:G646D	G	-	2	0	FGA	155725390	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.530000	0.60595	1.304000	0.44892	-0.143000	0.13931	GGC		TCGA-IB-7651-01A-11D-2154-08	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	1	0	1	46	330	0	61	0	4.318095e-02	0	3	0	61	2		0	0	0	0	0	2	1	1	46	324	0	61	2								-3.318812	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999710	0.990000	1	9.900000e-01	1
FGA	2243	broad.mit.edu	37	4	155507398	155507398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155507398G>A	ENST00000302053.3	-	5	1261	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	FGA_ENST00000403106.3_Missense_Mutation_p.P395S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain			73	all_hematologic(180;0.215)	Renal(120;0.0458)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGGCTATCTGGCCTAAAACTT	0.537000													NSCLC(143;340 1922 20892 22370 48145)											0							SO:0001583	missense			ENST00000302053.3	1	1	hg19	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692833	0.68271	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.69685	-0.42;1.61	5.65	4.8	0.61643	.	37.045900	0.00166	N	0.000000	D	0.82393	0.5027	M	0.73962	2.25	0.27372	N	0.955658	P;D	0.89917	0.886;1.0	P;D	0.83275	0.51;0.996	T	0.52779	-0.8530	10	0.46703	T	0.11	.	7.4811	0.27406	0.0832:0.0:0.7497:0.1671	.	395;395	P02671-2;P02671	.;FIBA_HUMAN	S	395	ENSP00000306361:P395S;ENSP00000385981:P395S	ENSP00000306361:P395S	P	-	1	0	FGA	155726848	0.996000	0.38824	0.665000	0.29768	0.944000	0.59088	1.984000	0.40658	1.379000	0.46325	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	1	0	1	102	503	0	102	0	9.992475e-01	0	54	0	102	2		0	0	0	0	0	2	1	1	99	487	0	100	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGA	2243	broad.mit.edu	37	4	155508756	155508756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155508756C>T	ENST00000302053.3	-	4	496	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FGA_ENST00000403106.3_Missense_Mutation_p.V140I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain			73	all_hematologic(180;0.215)	Renal(120;0.0458)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CGCTTCAGGACTTCAATTCTG	0.403000													NSCLC(143;340 1922 20892 22370 48145)											0							SO:0001583	missense			ENST00000302053.3	1	1	hg19	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017251	0.07959	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.84370	-1.84;-1.84	6.16	-0.556	0.11803	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	1.369600	0.04234	N	0.335841	T	0.57902	0.2085	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.59284	-0.7483	10	0.05525	T	0.97	.	6.2462	0.20818	0.1133:0.3299:0.0:0.5568	.	140;140;140	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	I	140	ENSP00000306361:V140I;ENSP00000385981:V140I	ENSP00000306361:V140I	V	-	1	0	FGA	155728206	0.000000	0.05858	0.649000	0.29536	0.771000	0.43674	-0.481000	0.06552	-0.003000	0.14444	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	1	0	1	94	387	0	92	0	9.997839e-01	0	53	0	92	2		0	0	0	0	0	2	1	1	91	382	0	91	2								-20.000000	1	1	121412	1	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGG	2266	broad.mit.edu	37	4	155526150	155526150	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155526150T>G	ENST00000336098.3	-	9	1236	c.1198A>C	c.(1198-1200)Acc>Ccc	p.T400P	FGG_ENST00000404648.3_Missense_Mutation_p.T400P|FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000405164.1_Missense_Mutation_p.T408P	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain			27	all_hematologic(180;0.215)	Renal(120;0.0458)		Sucralfate(DB00364)	TACCACCGGGTTTTCCAAGTG	0.418000																								0							SO:0001583	missense			ENST00000336098.3	1	1	hg19	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.161777	0.38217	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	6.08	-1.2	0.09554	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.788626	0.12680	N	0.448038	T	0.63034	0.2477	N	0.20483	0.58	0.09310	N	1	B;B;B;B;B	0.21381	0.01;0.003;0.055;0.002;0.044	B;B;B;B;B	0.30572	0.074;0.064;0.117;0.006;0.044	T	0.56038	-0.8045	10	0.72032	D	0.01	.	7.9052	0.29757	0.2906:0.2134:0.0:0.4961	.	297;408;400;408;400	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	P	400;408;400;408	ENSP00000384860:T400P;ENSP00000384101:T408P;ENSP00000336829:T400P;ENSP00000384552:T408P	ENSP00000336829:T400P	T	-	1	0	FGG	155745600	0.996000	0.38824	0.787000	0.31911	0.983000	0.72400	0.610000	0.24253	-0.372000	0.07992	-0.360000	0.07572	ACC		TCGA-IB-7651-01A-11D-2154-08	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	1	0	1	102	461	0	91	0	9.922562e-01	0	36	0	91	2		0	0	0	0	0	2	1	1	101	456	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGG	2266	broad.mit.edu	37	4	155528027	155528027	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155528027T>G	ENST00000336098.3	-	8	997	c.959A>C	c.(958-960)gAt>gCt	p.D320A	FGG_ENST00000404648.3_Missense_Mutation_p.D320A|FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000405164.1_Missense_Mutation_p.D328A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain			27	all_hematologic(180;0.215)	Renal(120;0.0458)		Sucralfate(DB00364)	ATCGCCAAAATCAAAGCCATC	0.468000																								0							SO:0001583	missense			ENST00000336098.3	0	1	hg19	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081363	0.55753	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23	5.79	5.79	0.91817	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.043772	0.85682	D	0.000000	D	0.94918	0.8357	N	0.21545	0.675	0.80722	D	1	P;P;P;P;P	0.50710	0.568;0.845;0.938;0.938;0.923	B;P;P;P;P	0.50378	0.251;0.523;0.639;0.639;0.506	D	0.93618	0.6945	10	0.15499	T	0.54	.	16.1223	0.81369	0.0:0.0:0.0:1.0	.	217;328;320;328;320	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	A	320;328;320;328	ENSP00000384860:D320A;ENSP00000384101:D328A;ENSP00000336829:D320A;ENSP00000384552:D328A	ENSP00000336829:D320A	D	-	2	0	FGG	155747477	1.000000	0.71417	0.997000	0.53966	0.600000	0.36913	4.935000	0.63498	2.201000	0.70794	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	0	0	0	14	628	0	129	0	1.811452e-01	0	33	0	129	2		0	0	0	0	0	2	1	9.997085e-01	14	612	0	129	2								-3.380079	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.260000	0.140000	1.000000	0.250000	0.314128	0.260000	0	2.000000e-01	3.600000e-01
RBM46	166863	broad.mit.edu	37	4	155719270	155719270	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155719270G>T	ENST00000281722.3	+	3	694	c.459G>T	c.(457-459)aaG>aaT	p.K153N	RBM46_ENST00000514866.1_Missense_Mutation_p.K153N|RBM46_ENST00000510397.1_Missense_Mutation_p.K153N	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46			26	all_hematologic(180;0.24)	Renal(120;0.0854)			AGGAAAAGAAGAAAGAAGAAA	0.328000																								0							SO:0001583	missense			ENST00000281722.3	1	1	hg19	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354214	0.41700	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.15487	2.42;2.42;2.42	5.79	0.892	0.19230	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.102857	0.64402	D	0.000002	T	0.26702	0.0653	L	0.54323	1.7	0.39437	D	0.967185	B;P;P	0.41569	0.34;0.755;0.578	B;P;P	0.53809	0.215;0.735;0.568	T	0.02617	-1.1133	10	0.48119	T	0.1	-17.5845	10.4173	0.44329	0.5062:0.0:0.4938:0.0	.	153;153;153	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	N	153	ENSP00000424500:K153N;ENSP00000281722:K153N;ENSP00000422813:K153N	ENSP00000281722:K153N	K	+	3	2	RBM46	155938720	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.876000	0.39588	0.189000	0.20188	-0.251000	0.11542	AAG		TCGA-IB-7651-01A-11D-2154-08	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	1	0	1	63	344	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	62	340	0	57	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM46	166863	broad.mit.edu	37	4	155749142	155749142	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155749142T>C	ENST00000281722.3	+	5	1760	c.1525T>C	c.(1525-1527)Tca>Cca	p.S509P	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46			26	all_hematologic(180;0.24)	Renal(120;0.0854)			CTATCCTTTGTCACCAACAAT	0.433000																								0							SO:0001583	missense			ENST00000281722.3	1	1	hg19	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923194	0.52653	.	.	ENSG00000151962	ENST00000281722	T	0.20463	2.07	5.67	4.49	0.54785	.	0.000000	0.43260	D	0.000590	T	0.09291	0.0229	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.15066	T	0.55	-10.9458	7.6213	0.28187	0.1256:0.0701:0.0:0.8043	.	509	Q8TBY0	RBM46_HUMAN	P	509	ENSP00000281722:S509P	ENSP00000281722:S509P	S	+	1	0	RBM46	155968592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.048000	0.49862	1.077000	0.40990	0.533000	0.62120	TCA		TCGA-IB-7651-01A-11D-2154-08	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	1	0	1	171	704	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	168	696	0	156	2								-20.000000	1	1	121412	1	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPY2R	4887	broad.mit.edu	37	4	156135449	156135449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156135449C>T	ENST00000329476.3	+	2	847	c.358C>T	c.(358-360)Cct>Tct	p.P120S	NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2			36	all_hematologic(180;0.24)	Renal(120;0.0854)		Cysteamine(DB00847)	GAAAATGGGTCCTGTCCTGTG	0.517000																								0							SO:0001583	missense			ENST00000329476.3	1	1	hg19	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	0.168	-1.074551	0.01903	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70986	-0.53;-0.53	5.44	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.640222	0.17149	N	0.185139	T	0.29749	0.0743	N	0.00637	-1.305	0.31948	N	0.610021	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	10	0.08179	T	0.78	.	3.4285	0.07420	0.1399:0.5778:0.1353:0.1471	.	120	P49146	NPY2R_HUMAN	S	120	ENSP00000332591:P120S;ENSP00000426366:P120S	ENSP00000332591:P120S	P	+	1	0	NPY2R	156354899	0.018000	0.18449	0.795000	0.32087	0.502000	0.33828	1.493000	0.35605	0.337000	0.23665	-0.163000	0.13421	CCT		TCGA-IB-7651-01A-11D-2154-08	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	1	0	1	39	238	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	39	234	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
NPY2R	4887	broad.mit.edu	37	4	156136031	156136031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156136031G>A	ENST00000329476.3	+	2	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2			36	all_hematologic(180;0.24)	Renal(120;0.0854)		Cysteamine(DB00847)	CCACATCATCGCCATGTGCTC	0.537000																								0							SO:0001583	missense			ENST00000329476.3	1	1	hg19	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668224	0.88348	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.69175	-0.38;-0.38	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87349	0.2336	10	0.87932	D	0	.	19.1661	0.93559	0.0:0.0:1.0:0.0	.	314	P49146	NPY2R_HUMAN	T	314	ENSP00000332591:A314T;ENSP00000426366:A314T	ENSP00000332591:A314T	A	+	1	0	NPY2R	156355481	1.000000	0.71417	0.977000	0.42913	0.722000	0.41435	9.869000	0.99810	2.770000	0.95276	0.643000	0.83706	GCC		TCGA-IB-7651-01A-11D-2154-08	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	1	0	1	51	300	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	51	298	0	82	2								-3.144724	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
MAP9	79884	broad.mit.edu	37	4	156296174	156296174	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156296174C>T	ENST00000311277.4	-	3	339		c.e3-1		AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Splice_Site|MAP9_ENST00000515654.1_Splice_Site	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9			26	all_hematologic(180;0.24)	Renal(120;0.0458)			TTAGCTCATCCTGAAATGAGA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000311277.4	1	1	hg19	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708525	0.68615	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000450097	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2752	0.66175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP9	156515624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	2.428000	0.82296	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	1	0	1	27	222	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	27	219	0	66	2								-2.716765	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.870000	1.000000	1.000000	0.992439	0.990000	1	9.900000e-01	1
GUCY1A3	2982	broad.mit.edu	37	4	156631699	156631699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156631699C>T	ENST00000296518.7	+	6	591	c.382C>T	c.(382-384)Cca>Tca	p.P128S	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3			64	all_hematologic(180;0.24)	Renal(120;0.0854)			TTCAGGAGTTCCAGTGGAGGT	0.388000																								0							SO:0001583	missense			ENST00000296518.7	1	1	hg19	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010766	0.35511	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.38	4.52	0.55395	Heme-NO binding (1);	0.095478	0.46442	D	0.000289	T	0.41143	0.1146	M	0.70275	2.135	0.51012	D	0.999901	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.21546	0.035;0.035;0.035	T	0.43572	-0.9383	10	0.02654	T	1	.	16.267	0.82593	0.0:0.867:0.133:0.0	.	128;128;128	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	S	128	ENSP00000424361:P128S;ENSP00000421493:P128S;ENSP00000426968:P128S;ENSP00000412201:P128S;ENSP00000296518:P128S;ENSP00000426040:P128S	ENSP00000296518:P128S	P	+	1	0	GUCY1A3	156851149	1.000000	0.71417	0.049000	0.19019	0.618000	0.37518	4.260000	0.58835	1.351000	0.45789	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2	1	0	1	46	233	0	62	0	9.999701e-01	0	82	0	62	2		0	0	0	0	0	2	1	1	45	230	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GUCY1B3	2983	broad.mit.edu	37	4	156717528	156717528	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156717528G>T	ENST00000264424.8	+	8	925		c.e8-1		GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3			28	all_hematologic(180;0.24)	Renal(120;0.0854)			GCCTTTTCAAGGAAGGATTGT	0.428000																								0							SO:0001630	splice_region_variant			ENST00000264424.8	1	1	hg19	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105229	0.56291	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2459	0.93902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUCY1B3	156936978	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.308000	0.96247	2.551000	0.86045	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2	1	0	1	49	282	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	48	278	0	62	2								-3.146395	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TDO2	6999	broad.mit.edu	37	4	156840997	156840997	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156840997A>G	ENST00000536354.2	+	12	1140	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase			18	all_hematologic(180;0.24)	Renal(120;0.0854)			AGTGATAGGTACAAGGTATTT	0.303000													Colon(57;928 1036 2595 6946 26094)											0							SO:0001583	missense			ENST00000536354.2	1	1	hg19	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520340	0.64747	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88209	0.2889	9	0.87932	D	0	-20.8017	16.215	0.82206	1.0:0.0:0.0:0.0	.	359	P48775	T23O_HUMAN	C	359	.	ENSP00000281525:Y359C	Y	+	2	0	TDO2	157060447	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	8.768000	0.91737	2.288000	0.76882	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	1	0	1	20	111	0	35	0	7.793649e-01	1	17	0	35	2		0	0	0	0	0	2	1	9.999968e-01	19	110	0	35	2								-12.248510	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999526	0.990000	1	9.900000e-01	1
CTSO	1519	broad.mit.edu	37	4	156849530	156849530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156849530C>T	ENST00000433477.3	-	7	958	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O			16	all_hematologic(180;0.24)	Renal(120;0.0458)			TAACCATCTACTCCCCAAGAA	0.343000													Pancreas(148;2303 2598 8989 35298)											0							SO:0001583	missense			ENST00000433477.3	1	1	hg19	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	3.991	-0.004456	0.07773	.	.	ENSG00000256043	ENST00000433477	T	0.28895	1.59	5.32	1.38	0.22167	Peptidase C1A, papain C-terminal (2);	0.587842	0.18013	N	0.154497	T	0.12475	0.0303	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.22556	-1.0213	10	0.33940	T	0.23	.	5.6985	0.17869	0.0:0.4893:0.1324:0.3784	.	297	P43234	CATO_HUMAN	I	297	ENSP00000414904:V297I	ENSP00000281527:V297I	V	-	1	0	CTSO	157068980	0.017000	0.18338	0.379000	0.26080	0.938000	0.57974	0.020000	0.13466	-0.053000	0.13289	-0.142000	0.14014	GTA		TCGA-IB-7651-01A-11D-2154-08	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	1	0	1	62	299	0	87	1	1	23	238	0	87	2		0	0	0	0	0	2	1	1	61	292	0	87	2								-20.000000	1	1	121412	1	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDGFC	56034	broad.mit.edu	37	4	157689048	157689048	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157689048G>A	ENST00000502773.1	-	5	1288	c.798C>T	c.(796-798)acC>acT	p.T266T	PDGFC_ENST00000541126.1_Silent_p.T103T|PDGFC_ENST00000542208.1_Silent_p.T111T|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C			19	all_hematologic(180;0.24)	Renal(120;0.0458)			AAATGGTATCGGTTCTCTTTA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000502773.1	1	1	hg19	CCDS3795.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1	0	0	0	19	581	0	151	1	9.944168e-01	7	247	0	151	2		0	0	0	0	0	2	1	9.999892e-01	19	571	0	151	2								-2.425801	0	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.380000	0.230000	1.000000	0.370000	0.424095	0.380000	0	3.000000e-01	5.000000e-01
CD38	952	broad.mit.edu	37	4	15780058	15780058	+	Silent	SNP	C	C	T	rs142149974	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15780058C>T	ENST00000226279.3	+	1	158	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule			14					GCGAGTTCAGCCCGGTGTCCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000226279.3	1	1	hg19	CCDS3417.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	0	0	1	125	530	1	97	0	9.763447e-01	0	36	1	97	3		0	0	0	0	0	2	1	1	124	521	1	95	22								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDGFC	56034	broad.mit.edu	37	4	157891977	157891977	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157891977T>C	ENST00000502773.1	-	1	569	c.79A>G	c.(79-81)Agt>Ggt	p.S27G	PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C			19	all_hematologic(180;0.24)	Renal(120;0.0458)			AATTTACTACTCAGGTTGGAT	0.542000											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000502773.1	1	1	hg19	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	T	4.883	0.164081	0.09287	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.15952	2.44;2.38	5.12	3.94	0.45596	.	0.000000	0.64402	D	0.000006	T	0.14056	0.0340	L	0.32530	0.975	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.03807	-1.1002	10	0.87932	D	0	-15.015	10.526	0.44950	0.0:0.076:0.0:0.924	.	27	Q9NRA1	PDGFC_HUMAN	G	27	ENSP00000422464:S27G;ENSP00000410048:S27G	ENSP00000274071:S27G	S	-	1	0	PDGFC	158111427	1.000000	0.71417	0.944000	0.38274	0.010000	0.07245	3.812000	0.55628	0.805000	0.34159	0.377000	0.23210	AGT		TCGA-IB-7651-01A-11D-2154-08	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1	1	0	1	71	299	0	82	1	1	14	297	0	82	2		0	0	0	0	0	2	1	1	69	298	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLRB	2743	broad.mit.edu	37	4	158057850	158057850	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:158057850G>A	ENST00000264428.4	+	5	797	c.527G>A	c.(526-528)aGg>aAg	p.R176K	GLRB_ENST00000509282.1_Splice_Site_p.R176K|GLRB_ENST00000541722.1_Splice_Site_p.R176K|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta			27	all_hematologic(180;0.24)	Renal(120;0.0458)		Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTCAGCATGAGGTACTCTTTT	0.313000																								0							SO:0001630	splice_region_variant			ENST00000264428.4	0	1	hg19	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999186	0.93227	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.80994	-1.44;-1.44;-1.44	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.73430	2.235	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	D	0.90671	0.4598	10	0.87932	D	0	.	19.0435	0.93011	0.0:0.0:1.0:0.0	.	176	P48167	GLRB_HUMAN	K	176	ENSP00000264428:R176K;ENSP00000441873:R176K;ENSP00000427186:R176K	ENSP00000264428:R176K	R	+	2	0	GLRB	158277300	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.807000	0.99171	2.487000	0.83934	0.557000	0.71058	AGG		TCGA-IB-7651-01A-11D-2154-08	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	0	0	0	14	431	0	108	0	2.652891e-01	0	30	0	108	2		0	0	0	0	0	2	1	9.997344e-01	13	425	0	108	2								-2.752916	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.380000	0.210000	1.000000	0.370000	0.426781	0.380000	0	2.900000e-01	5.200000e-01
CD38	952	broad.mit.edu	37	4	15842113	15842113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15842113C>T	ENST00000226279.3	+	7	928	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule			14					GAGCTGGAATCGATTATAAGC	0.333000																								0							SO:0001583	missense			ENST00000226279.3	1	1	hg19	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	C	6.998	0.554245	0.13374	.	.	ENSG00000004468	ENST00000226279	T	0.14516	2.5	5.16	-4.45	0.03546	NAD(P)-binding domain (1);	1.842590	0.02069	N	0.051380	T	0.09069	0.0224	L	0.27053	0.805	0.09310	N	1	B	0.19445	0.036	B	0.10450	0.005	T	0.22800	-1.0206	10	0.27785	T	0.31	2.133	5.4561	0.16592	0.2315:0.2642:0.0:0.5043	.	264	P28907	CD38_HUMAN	L	264	ENSP00000226279:S264L	ENSP00000226279:S264L	S	+	2	0	CD38	15451211	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.692000	0.00391	-1.538000	0.01734	-0.827000	0.03088	TCG		TCGA-IB-7651-01A-11D-2154-08	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	1	0	1	89	483	0	128	0	9.999452e-01	0	78	0	128	2		0	0	0	0	0	2	1	1	86	475	0	128	2								-20.000000	1	1	121410	5	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM198B	51313	broad.mit.edu	37	4	159091641	159091641	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091641C>A	ENST00000296530.8	-	2	1508	c.887G>T	c.(886-888)aGc>aTc	p.S296I	RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I|FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B			26					TGCTTTCCTGCTCACAGACGG	0.502000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000296530.8	1	1	hg19	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658859	0.88154	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.34072	1.38;1.38	5.4	5.4	0.78164	.	0.079566	0.85682	D	0.000000	T	0.61899	0.2384	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.988;0.992;0.978	T	0.64605	-0.6368	10	0.72032	D	0.01	-22.296	19.2318	0.93843	0.0:1.0:0.0:0.0	.	296;296;296	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	I	296	ENSP00000296530:S296I;ENSP00000377396:S296I	ENSP00000296530:S296I	S	-	2	0	FAM198B	159311091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.458000	0.66679	2.536000	0.85505	0.558000	0.71614	AGC		TCGA-IB-7651-01A-11D-2154-08	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	1	0	1	76	377	0	79	0	1	0	175	0	79	2		0	0	0	0	0	2	1	1	76	376	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM198B	51313	broad.mit.edu	37	4	159091910	159091910	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091910C>T	ENST00000296530.8	-	2	1239	c.618G>A	c.(616-618)agG>agA	p.R206R	RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Silent_p.R206R|FAM198B_ENST00000585682.1_Silent_p.R206R|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_Silent_p.R206R|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B			26					CGCTGTAGATCCTAATGTTGC	0.632000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000296530.8	1	1	hg19	CCDS3798.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	0	0	0	14	399	0	85	0	8.067349e-01	0	89	0	85	2		0	0	0	0	0	2	1	9.997339e-01	14	392	0	85	2								-13.621850	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.410000	0.230000	1.000000	0.390000	0.455060	0.410000	0	3.100000e-01	5.600000e-01
FGFBP1	9982	broad.mit.edu	37	4	15937605	15937605	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15937605A>C	ENST00000382333.1	-	3	945	c.651T>G	c.(649-651)acT>acG	p.T217T	FGFBP1_ENST00000259988.2_Silent_p.T217T	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1			10					GAGAGCTCCAAGTCTCTCCAC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000382333.1	1	1	hg19	CCDS3418.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	1	0	1	137	641	0	155	1	8.711522e-01	17	2	0	155	2		0	0	0	0	0	2	1	1	136	634	0	155	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RXFP1	59350	broad.mit.edu	37	4	159566237	159566237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159566237C>T	ENST00000307765.5	+	15	1543	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	RXFP1_ENST00000470033.1_Missense_Mutation_p.P398L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1			49	all_hematologic(180;0.24)	Renal(120;0.0854)			TGCATGCGACCTTATATCAGG	0.378000																								0							SO:0001583	missense			ENST00000307765.5	1	1	hg19	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654980	0.47467	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.76	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.155348	0.64402	D	0.000014	T	0.08223	0.0205	N	0.00991	-1.07	0.50039	D	0.99984	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.001;0.001;0.0;0.002;0.001	T	0.23404	-1.0189	10	0.02654	T	1	.	8.1939	0.31385	0.1294:0.7361:0.0:0.1345	.	442;458;326;383;398;350;301;431	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	350;431;326;383;398;301	ENSP00000423306:P350L;ENSP00000303248:P431L;ENSP00000414885:P326L;ENSP00000345889:P383L;ENSP00000420712:P398L	ENSP00000303248:P431L	P	+	2	0	RXFP1	159785687	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.826000	0.62715	0.767000	0.33267	-0.244000	0.11960	CCT		TCGA-IB-7651-01A-11D-2154-08	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	1	0	1	90	386	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	90	379	0	70	2								-3.028295	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C4orf46	201725	broad.mit.edu	37	4	159592872	159592872	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159592872C>A	ENST00000379205.4	-	1	326	c.82G>T	c.(82-84)Gca>Tca	p.A28S	C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S|ETFDH_ENST00000511912.1_5'Flank|ETFDH_ENST00000307738.5_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46			5					GGGGAAGATGCTGCAGAGGCG	0.672000																								0							SO:0001583	missense			ENST00000379205.4	1	1	hg19	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224322	0.39300	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	4.11	-2.98	0.05513	.	1.353090	0.05058	N	0.479411	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.15350	-1.0440	9	0.23891	T	0.37	.	3.4512	0.07499	0.4545:0.2543:0.0:0.2912	.	28	Q504U0	CD046_HUMAN	S	28	.	ENSP00000368503:A28S	A	-	1	0	C4orf46	159812322	0.070000	0.21116	0.000000	0.03702	0.001000	0.01503	-0.319000	0.08039	-0.435000	0.07264	-0.222000	0.12452	GCA		TCGA-IB-7651-01A-11D-2154-08	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	1	0	1	16	61	0	13	1	9.286905e-01	5	15	0	13	2		0	0	0	0	0	2	1	9.999528e-01	14	60	0	13	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999892	0.990000	1	9.900000e-01	1
ETFDH	2110	broad.mit.edu	37	4	159606330	159606330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159606330G>A	ENST00000511912.1	+	5	897	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	ETFDH_ENST00000307738.5_Missense_Mutation_p.A142T	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase			28	all_hematologic(180;0.24)	Renal(120;0.0458)			ACAAGCAGAAGCCCTTGGTGT	0.358000																								0							SO:0001583	missense			ENST00000511912.1	1	1	hg19	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009916	0.54361	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.95821	-3.77;-3.82;-3.77	5.73	2.97	0.34412	.	0.219823	0.47093	D	0.000260	D	0.93598	0.7956	M	0.77616	2.38	0.39314	D	0.96512	B;B;B	0.23591	0.031;0.012;0.088	B;B;B	0.25405	0.02;0.015;0.06	D	0.90089	0.4176	10	0.39692	T	0.17	-9.9469	7.7272	0.28767	0.0652:0.1201:0.6898:0.1248	.	142;128;189	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	T	189;24;142	ENSP00000426638:A189T;ENSP00000422735:A24T;ENSP00000303552:A142T	ENSP00000303552:A142T	A	+	1	0	ETFDH	159825780	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.621000	0.67743	0.772000	0.33382	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2	1	0	1	107	526	0	84	1	1	40	77	0	84	2		0	0	0	0	0	2	1	1	103	513	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ETFDH	2110	broad.mit.edu	37	4	159627858	159627858	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627858T>G	ENST00000511912.1	+	12	1878	c.1546T>G	c.(1546-1548)Ttt>Gtt	p.F516V	ETFDH_ENST00000307738.5_Missense_Mutation_p.F469V	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase			28	all_hematologic(180;0.24)	Renal(120;0.0458)			ACAGATCAGTTTTGACCTCTT	0.438000																								0							SO:0001583	missense			ENST00000511912.1	1	1	hg19	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055411	0.93793	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94457	-3.43;-3.43	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-20.7069	16.0345	0.80612	0.0:0.0:0.0:1.0	.	469;455;516	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	V	516;469	ENSP00000426638:F516V;ENSP00000303552:F469V	ENSP00000303552:F469V	F	+	1	0	ETFDH	159847308	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.183000	0.69458	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2	1	0	1	184	727	0	198	1	1	42	87	0	198	2		0	0	0	0	0	2	1	1	178	711	0	196	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ETFDH	2110	broad.mit.edu	37	4	159627874	159627874	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627874C>A	ENST00000511912.1	+	12	1894	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	ETFDH_ENST00000307738.5_Missense_Mutation_p.S474Y	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase			28	all_hematologic(180;0.24)	Renal(120;0.0458)			CTCTTGTCATCTGTGGCTCTG	0.438000																								0							SO:0001583	missense			ENST00000511912.1	1	1	hg19	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910147	0.92107	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.95949	-3.86;-3.86	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.99372	1.0920	10	0.87932	D	0	-0.078	19.6878	0.95987	0.0:1.0:0.0:0.0	.	474;460;521	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	Y	521;474	ENSP00000426638:S521Y;ENSP00000303552:S474Y	ENSP00000303552:S474Y	S	+	2	0	ETFDH	159847324	1.000000	0.71417	0.927000	0.36925	0.989000	0.77384	7.818000	0.86416	2.646000	0.89796	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2	1	0	1	163	719	0	194	1	1	51	80	0	194	2		0	0	0	0	0	2	1	1	160	703	0	193	2								-20.000000	1	0	121412	1	39	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGFBP2	83888	broad.mit.edu	37	4	15964245	15964245	+	Missense_Mutation	SNP	C	C	T	rs138174664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964245C>T	ENST00000259989.6	-	1	614	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2			9					CCCAGCTCTTCCATCGAGTCC	0.602000																								0							SO:0001583	missense			ENST00000259989.6	1	1	hg19	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	6.345	0.431820	0.12045	0.0	1.16E-4	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.53	-2.46	0.06461	.	.	.	.	.	T	0.03095	0.0091	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	9	0.02654	T	1	.	7.0495	0.25065	0.0:0.1959:0.0:0.8041	.	170	Q9BYJ0	FGFP2_HUMAN	K	170	ENSP00000259989:E170K	ENSP00000259989:E170K	E	-	1	0	FGFBP2	15573343	0.778000	0.28640	0.001000	0.08648	0.002000	0.02628	0.891000	0.28309	-0.611000	0.05709	-0.302000	0.09304	GAA		TCGA-IB-7651-01A-11D-2154-08	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	1	0	0	57	985	0	158	0	1.734798e-02	1	3	0	158	2		0	0	0	0	0	2	1	1	54	964	0	156	2								-7.659827	1	1	121412	4	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.650000	0.490000	1.000000	0.640000	0.673767	0.650000	0	5.600000e-01	7.600000e-01
FGFBP2	83888	broad.mit.edu	37	4	15964616	15964616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964616C>T	ENST00000259989.6	-	1	243	c.137G>A	c.(136-138)cGt>cAt	p.R46H	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2			9					GCTGCTGGGACGCATAGTGCA	0.597000																								0							SO:0001583	missense			ENST00000259989.6	0	1	hg19	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	4.346	0.063603	0.08388	2.27E-4	0.0	ENSG00000137441	ENST00000259989	T	0.15139	2.45	2.72	0.874	0.19124	.	0.431013	0.19984	U	0.101701	T	0.08980	0.0222	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.20767	0.031	T	0.22800	-1.0206	10	0.49607	T	0.09	-4.2113	4.086	0.09947	0.0:0.5639:0.194:0.2421	.	46	Q9BYJ0	FGFP2_HUMAN	H	46	ENSP00000259989:R46H	ENSP00000259989:R46H	R	-	2	0	FGFBP2	15573714	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	-1.167000	0.03126	0.125000	0.18397	-0.142000	0.14014	CGT		TCGA-IB-7651-01A-11D-2154-08	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	0	0	0	8	280	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.888687e-01	8	275	0	54	2								-8.973038	1	1	121412	2	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.350000	0.160000	1.000000	0.320000	0.396895	0.350000	0	2.400000e-01	5.100000e-01
FNIP2	57600	broad.mit.edu	37	4	159790058	159790058	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159790058T>C	ENST00000264433.6	+	13	2345	c.2270T>C	c.(2269-2271)gTg>gCg	p.V757A	FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2			9	all_hematologic(180;0.24)				GCTGCTGATGTGGCTCAGGAC	0.537000																								0							SO:0001583	missense			ENST00000264433.6	1	1	hg19	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	T	0.493	-0.874454	0.02550	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.21031	2.04;2.03	5.13	-9.77	0.00500	.	3.600100	0.00424	N	0.000068	T	0.09069	0.0224	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	9	.	.	.	.	2.5952	0.04852	0.1927:0.3673:0.0982:0.3418	.	757	Q9P278	FNIP2_HUMAN	A	757;780	ENSP00000264433:V757A;ENSP00000368651:V780A	.	V	+	2	0	FNIP2	160009508	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.317000	0.01122	-2.063000	0.00890	-2.451000	0.00208	GTG		TCGA-IB-7651-01A-11D-2154-08	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	1	0	1	71	337	0	85	1	9.999910e-01	19	63	0	85	2		0	0	0	0	0	2	1	1	70	336	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF2	9693	broad.mit.edu	37	4	160251584	160251584	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160251584T>G	ENST00000264431.4	+	7	1337	c.918T>G	c.(916-918)ctT>ctG	p.L306L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2			70	all_hematologic(180;0.24)				GGACTTTTCTTTCTAGCCCAA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000264431.4	1	1	hg19	CCDS43277.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1	97	458	0	98	1	9.903311e-01	17	19	0	98	2		0	0	0	0	0	2	1	1	96	437	0	97	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF2	9693	broad.mit.edu	37	4	160262774	160262774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160262774G>A	ENST00000264431.4	+	14	2529	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2			70	all_hematologic(180;0.24)				AGATGCTCAGGAGTTGTTGAG	0.398000																								0							SO:0001583	missense			ENST00000264431.4	1	1	hg19	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549779	0.86127	.	.	ENSG00000109756	ENST00000264431	T	0.28666	1.6	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.088202	0.85682	D	0.000000	T	0.44705	0.1306	L	0.60455	1.87	0.80722	D	1	P	0.51057	0.941	P	0.49451	0.611	T	0.35599	-0.9782	10	0.87932	D	0	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	704	Q9Y4G8	RPGF2_HUMAN	K	704	ENSP00000264431:E704K	ENSP00000264431:E704K	E	+	1	0	RAPGEF2	160482224	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.841000	0.99482	2.879000	0.98667	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1	48	253	0	65	1	9.993815e-01	13	48	0	65	2		0	0	0	0	0	2	1	1	48	250	0	65	2								-3.239905	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RAPGEF2	9693	broad.mit.edu	37	4	160273849	160273849	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160273849C>A	ENST00000264431.4	+	21	3814	c.3395C>A	c.(3394-3396)gCt>gAt	p.A1132D		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	p.A1120V(1)		70	all_hematologic(180;0.24)				TATACTTTGGCTCCCAGTGGT	0.373000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264431.4	0	1	hg19	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.93|10.93	1.489606|1.489606	0.26686|0.26686	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000510253	T|.	0.38560|.	1.13|.	6.07|6.07	5.21|5.21	0.72293|0.72293	.|.	0.101183|.	0.64402|.	D|.	0.000002|.	T|T	0.59404|0.59404	0.2191|0.2191	L|L	0.36672|0.36672	1.1|1.1	0.48135|0.48135	D|D	0.999599|0.999599	B|.	0.27068|.	0.167|.	B|.	0.26202|.	0.067|.	T|T	0.55679|0.55679	-0.8103|-0.8103	10|5	0.44086|.	T|.	0.13|.	.|.	17.2077|17.2077	0.86922|0.86922	0.0:0.874:0.126:0.0|0.0:0.874:0.126:0.0	.|.	1132|.	Q9Y4G8|.	RPGF2_HUMAN|.	D|I	1132|189	ENSP00000264431:A1132D|.	ENSP00000264431:A1132D|.	A|L	+|+	2|1	0|0	RAPGEF2|RAPGEF2	160493299|160493299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.546000|1.546000	0.36179|0.36179	1.536000|1.536000	0.49237|0.49237	0.655000|0.655000	0.94253|0.94253	GCT|CTC		TCGA-IB-7651-01A-11D-2154-08	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	0	0	0	10	357	1	72	0	3.177425e-02	0	72	1	72	6		0	0	0	0	0	2	0	1.123722e-01	10	353	1	72	17								-3.279962	1	1	120824	1	31	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.340000	0.170000	1.000000	0.320000	0.384608	0.340000	0	2.400000e-01	4.800000e-01
RAPGEF2	9693	broad.mit.edu	37	4	160275116	160275116	+	Silent	SNP	G	G	A	rs145873578	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160275116G>A	ENST00000264431.4	+	22	4505	c.4086G>A	c.(4084-4086)acG>acA	p.T1362T		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2			70	all_hematologic(180;0.24)				GTAGCCTAACGTCTGTGACTA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000264431.4	1	0	hg19	CCDS43277.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	4.702	0.130582	0.08981	0.002052	0.003719	ENSG00000109756	ENST00000505026	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.23620	N	0.997272	.	.	.	.	.	.	T	0.07558	-1.0766	4	.	.	.	.	3.8129	0.08804	0.1693:0.1463:0.4787:0.2057	.	.	.	.	I	297	.	.	V	+	1	0	RAPGEF2	160494566	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.319000	0.02702	-4.451000	0.00048	-1.814000	0.00607	GTC		TCGA-IB-7651-01A-11D-2154-08	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1	58	226	0	63	1	9.999744e-01	14	50	0	63	2		0	0	0	0	0	2	1	1	58	223	0	63	2								-2.466310	0	1	120844	201	54	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF2	9693	broad.mit.edu	37	4	160277266	160277266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160277266G>A	ENST00000264431.4	+	23	4849	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2			70	all_hematologic(180;0.24)				TCTGACCCGCGCCTCGCCCCC	0.532000																								0							SO:0001583	missense			ENST00000264431.4	1	1	hg19	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259225	0.59321	.	.	ENSG00000109756	ENST00000264431	T	0.39592	1.07	5.05	5.05	0.67936	.	0.078055	0.51477	D	0.000091	T	0.34366	0.0895	L	0.36672	1.1	0.45161	D	0.998174	B	0.09022	0.002	B	0.04013	0.001	T	0.14282	-1.0478	10	0.56958	D	0.05	.	12.8136	0.57652	0.0787:0.0:0.9213:0.0	.	1477	Q9Y4G8	RPGF2_HUMAN	H	1477	ENSP00000264431:R1477H	ENSP00000264431:R1477H	R	+	2	0	RAPGEF2	160496716	1.000000	0.71417	0.970000	0.41538	0.956000	0.61745	4.472000	0.60189	2.330000	0.79161	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	1	0	1	39	157	0	51	1	9.999991e-01	15	76	0	51	2		0	0	0	0	0	2	1	1	39	154	0	51	2								-20.000000	1	1	120980	1	27	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAPT1	202018	broad.mit.edu	37	4	16192999	16192999	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:16192999G>T	ENST00000405303.2	-	4	680	c.597C>A	c.(595-597)atC>atA	p.I199I	TAPT1_ENST00000399920.3_Silent_p.I88I|TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000304584.8_Silent_p.I25I	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1			10					GCATGTTGTAGATGATGTAGA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000405303.2	1	1	hg19	CCDS47030.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	1	0	1	13	41	0	10	1	9.999937e-01	22	64	0	10	2		0	0	0	0	0	2	1	9.997229e-01	13	40	0	9	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999841	0.990000	1	9.900000e-01	1
FSTL5	56884	broad.mit.edu	37	4	162307033	162307033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:162307033C>T	ENST00000306100.5	-	16	2846	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S|FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5			91	all_hematologic(180;0.24)				CCAAACAAGCCACTGTCCTGG	0.443000																								0							SO:0001583	missense			ENST00000306100.5	1	1	hg19	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930608	0.92389	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.73	5.73	0.89815	.	0.044902	0.85682	N	0.000000	T	0.54287	0.1849	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.55198	-0.8178	10	0.72032	D	0.01	.	18.8882	0.92388	0.0:1.0:0.0:0.0	.	794;803;804	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	804;803;794;803	ENSP00000305334:G804S;ENSP00000368462:G803S;ENSP00000389270:G794S;ENSP00000440409:G803S	ENSP00000305334:G804S	G	-	1	0	FSTL5	162526483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.700000	0.92200	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	1	0	1	153	644	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1	153	606	0	116	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPY1R	4886	broad.mit.edu	37	4	164246480	164246480	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246480T>A	ENST00000296533.2	-	3	1661	c.1130A>T	c.(1129-1131)aAc>aTc	p.N377I	NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1			30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)			ATCATCATTGTTGTTGATTTT	0.363000																								0							SO:0001583	missense			ENST00000296533.2	1	1	hg19	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	-	3.699	-0.061899	0.07317	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.70631	-0.5;-0.07	4.7	1.89	0.25635	.	0.953966	0.08718	N	0.903992	T	0.54695	0.1874	N	0.22421	0.69	0.26868	N	0.96781	B	0.22909	0.077	B	0.23018	0.043	T	0.40664	-0.9551	10	0.26408	T	0.33	.	8.1168	0.30948	0.0:0.3237:0.0:0.6763	.	377	P25929	NPY1R_HUMAN	I	377;134	ENSP00000354652:N377I;ENSP00000427284:N134I	ENSP00000354652:N377I	N	-	2	0	NPY1R	164465930	0.426000	0.25506	0.091000	0.20842	0.758000	0.43043	0.555000	0.23422	0.246000	0.21394	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1	1	0	1	89	529	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	1	89	522	0	103	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPY1R	4886	broad.mit.edu	37	4	164246499	164246499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246499C>T	ENST00000296533.2	-	3	1642	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1			30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)			TTTTTAAATGCGACTGGGCTT	0.383000																								0							SO:0001583	missense			ENST00000296533.2	1	1	hg19	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096279	0.20552	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.71103	-0.54;-0.06	5.69	2.95	0.34219	.	0.436137	0.22431	N	0.060155	T	0.43875	0.1267	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20638	-1.0269	10	0.14252	T	0.57	.	7.0591	0.25115	0.1217:0.6822:0.0:0.196	.	371	P25929	NPY1R_HUMAN	T	371;128	ENSP00000354652:A371T;ENSP00000427284:A128T	ENSP00000354652:A371T	A	-	1	0	NPY1R	164465949	0.014000	0.17966	0.201000	0.23476	0.943000	0.58893	0.049000	0.14099	0.722000	0.32252	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1	1	0	1	101	637	1	127	0	1.910800e-02	0	2	1	127	2		0	0	0	0	0	2	1	1	102	629	0	126	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM53A	152877	broad.mit.edu	37	4	1657352	1657352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1657352C>T	ENST00000308132.6	-	4	427	c.235G>A	c.(235-237)Gct>Act	p.A79T	FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T|FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A			10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		ATGGTGTGAGCGGCAGCAGAC	0.667000																								0							SO:0001583	missense			ENST00000308132.6	1	1	hg19	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278835	0.40294	.	.	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884;ENST00000463238	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	2.87	0.913	0.19354	.	1.057190	0.07555	U	0.916117	T	0.36635	0.0974	L	0.46157	1.445	0.09310	N	1	P;D	0.58268	0.951;0.982	B;P	0.44518	0.32;0.452	T	0.20672	-1.0268	10	0.46703	T	0.11	-6.3993	5.2949	0.15747	0.5219:0.3708:0.0:0.1073	.	79;79	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	T	79	ENSP00000310057:A79T;ENSP00000419044:A79T;ENSP00000418243:A79T;ENSP00000426260:A79T;ENSP00000417615:A79T	ENSP00000310057:A79T	A	-	1	0	FAM53A	1627149	0.060000	0.20803	0.001000	0.08648	0.003000	0.03518	0.705000	0.25675	-0.275000	0.09219	-0.490000	0.04691	GCT		TCGA-IB-7651-01A-11D-2154-08	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	1	0	1	20	61	0	17	1	6.294965e-01	3	5	0	17	2		0	0	0	0	0	2	1	9.999976e-01	18	60	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
TRIM60	166655	broad.mit.edu	37	4	165962546	165962546	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:165962546A>G	ENST00000512596.1	+	3	1538	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S|TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60			29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)			TATACTTTTAACGATTGTTTC	0.343000																								0							SO:0001583	missense			ENST00000512596.1	1	1	hg19	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.329548	0.01298	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.66995	-0.24;-0.24;-0.24	2.69	-5.28	0.02755	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.284280	0.06150	N	0.674012	T	0.31979	0.0814	N	0.02685	-0.53	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35773	-0.9775	10	0.05620	T	0.96	.	6.4852	0.22085	0.2125:0.2887:0.4988:0.0	.	441	Q495X7	TRI60_HUMAN	S	441	ENSP00000421142:N441S;ENSP00000426496:N441S;ENSP00000343765:N441S	ENSP00000343765:N441S	N	+	2	0	TRIM60	166181996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.427000	0.06999	-1.292000	0.02366	-0.256000	0.11100	AAC		TCGA-IB-7651-01A-11D-2154-08	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	1	0	1	72	297	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	72	294	0	57	2								-20.000000	1	1	121412	1	29	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM192	201931	broad.mit.edu	37	4	166021946	166021946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166021946T>G	ENST00000306480.6	-	3	418	c.273A>C	c.(271-273)aaA>aaC	p.K91N	TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192			7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)			CCGTCTGAACTTTCAATGGGT	0.388000																								0							SO:0001583	missense			ENST00000306480.6	1	1	hg19	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147221	0.37923	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.31	-0.0997	0.13623	.	0.472269	0.27319	N	0.019914	T	0.41419	0.1158	L	0.57536	1.79	0.33843	D	0.631653	B	0.27351	0.176	B	0.21917	0.037	T	0.44772	-0.9306	9	0.22706	T	0.39	-1.2884	9.3717	0.38258	0.0:0.377:0.0:0.623	.	91	Q8IY95	TM192_HUMAN	N	91;87	.	ENSP00000305069:K91N	K	-	3	2	TMEM192	166241396	0.965000	0.33210	0.994000	0.49952	0.878000	0.50629	-0.079000	0.11357	0.116000	0.18110	0.402000	0.26972	AAA		TCGA-IB-7651-01A-11D-2154-08	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	1	0	1	70	325	0	65	1	9.999387e-01	17	51	0	65	2		0	0	0	0	0	2	1	1	68	318	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPE	1363	broad.mit.edu	37	4	166388932	166388932	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166388932C>T	ENST00000402744.4	+	3	877	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E			26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGATAGTGTACGTGAATGAGA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000402744.4	1	1	hg19	CCDS3810.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	1	0	0	12	282	0	44	0	9.998984e-01	0	403	0	44	2		0	0	0	0	0	2	1	9.989052e-01	12	269	0	44	2								-4.100267	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.500000	0.270000	1.000000	0.480000	0.538586	0.500000	0	3.700000e-01	6.900000e-01
SPOCK3	50859	broad.mit.edu	37	4	167921568	167921568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:167921568G>A	ENST00000357154.3	-	5	428	c.291C>T	c.(289-291)cgC>cgT	p.R97R	SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000504953.1_Silent_p.R94R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3			38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)			ATACTTTATGGCGACTACATT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000357154.3	1	1	hg19	CCDS54817.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1	1	0	1	79	429	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	79	422	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX60	55601	broad.mit.edu	37	4	169194446	169194446	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169194446T>G	ENST00000393743.3	-	18	2849	c.2558A>C	c.(2557-2559)gAt>gCt	p.D853A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60			63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			GTTTAAGGCATCATGACGATA	0.358000																								0							SO:0001583	missense			ENST00000393743.3	1	1	hg19	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381296	0.42207	.	.	ENSG00000137628	ENST00000393743	T	0.14266	2.52	5.53	5.53	0.82687	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.379178	0.24808	N	0.035430	T	0.25791	0.0628	L	0.40543	1.245	0.43308	D	0.995313	D	0.60575	0.988	P	0.60541	0.876	T	0.00597	-1.1652	10	0.36615	T	0.2	.	15.6094	0.76704	0.0:0.0:0.0:1.0	.	853	Q8IY21	DDX60_HUMAN	A	853	ENSP00000377344:D853A	ENSP00000377344:D853A	D	-	2	0	DDX60	169431021	0.989000	0.36119	0.096000	0.21009	0.004000	0.04260	5.030000	0.64128	2.225000	0.72522	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	1	0	1	63	255	0	64	1	9.999993e-01	16	71	0	64	2		0	0	0	0	0	2	1	1	63	253	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX60	55601	broad.mit.edu	37	4	169229212	169229212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169229212C>T	ENST00000393743.3	-	4	500	c.209G>A	c.(208-210)cGc>cAc	p.R70H	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60			63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			CACAAGATAGCGTTCAACCAG	0.338000																								0							SO:0001583	missense			ENST00000393743.3	1	1	hg19	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	3.993	-0.004024	0.07773	.	.	ENSG00000137628	ENST00000393743;ENST00000514995	T	0.20881	2.04	4.87	2.11	0.27256	.	0.916407	0.09361	N	0.812697	T	0.18593	0.0446	L	0.59436	1.845	0.09310	N	1	B	0.25521	0.128	B	0.17098	0.017	T	0.30621	-0.9972	10	0.41790	T	0.15	.	3.359	0.07179	0.1398:0.5734:0.1355:0.1513	.	70	Q8IY21	DDX60_HUMAN	H	70	ENSP00000377344:R70H	ENSP00000377344:R70H	R	-	2	0	DDX60	169465787	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.569000	0.05902	0.314000	0.23086	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	1	0	1	68	324	0	103	1	9.999994e-01	17	85	0	103	2		0	0	0	0	0	2	1	1	67	317	0	103	2								-20.000000	1	1	121408	6	39	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX60L	91351	broad.mit.edu	37	4	169292909	169292909	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169292909G>T	ENST00000511577.1	-	36	5029	c.4782C>A	c.(4780-4782)atC>atA	p.I1594I	DDX60L_ENST00000260184.7_Silent_p.I1594I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like			43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			CTGTGCGCAGGATGACCTGAA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000511577.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1	15	81	0	28	1	9.999928e-01	38	90	0	28	2		0	0	0	0	0	2	1	9.998948e-01	15	78	0	28	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998720	0.990000	1	9.900000e-01	1
DDX60L	91351	broad.mit.edu	37	4	169305771	169305771	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169305771T>C	ENST00000511577.1	-	30	4355	c.4108A>G	c.(4108-4110)Aag>Gag	p.K1370E	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like			43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			ACCTTTGCCTTGGCATCCTCT	0.537000																								0							SO:0001583	missense			ENST00000511577.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	0.034	-1.315678	0.01331	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.17528	2.27;2.27	3.55	-2.16	0.07080	.	.	.	.	.	T	0.07007	0.0178	N	0.17379	0.485	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.42396	-0.9454	9	0.06494	T	0.89	.	4.8972	0.13757	0.0:0.2244:0.2885:0.4871	.	1370	Q5H9U9	DDX6L_HUMAN	E	1370	ENSP00000260184:K1370E;ENSP00000422423:K1370E	ENSP00000260184:K1370E	K	-	1	0	DDX60L	169542346	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-0.047000	0.11963	-0.142000	0.11354	-0.461000	0.05368	AAG		TCGA-IB-7651-01A-11D-2154-08	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1	31	115	0	37	1	9.999730e-01	13	53	0	37	2		0	0	0	0	0	2	1	1	30	110	0	39	2								-19.971700	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX60L	91351	broad.mit.edu	37	4	169312748	169312748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169312748G>A	ENST00000511577.1	-	29	4105	c.3858C>T	c.(3856-3858)tgC>tgT	p.C1286C	DDX60L_ENST00000505890.1_Silent_p.C1287C|DDX60L_ENST00000260184.7_Silent_p.C1286C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like			43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			CAACAGATTTGCATGGCATGT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000511577.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.532	0.658798	0.14645	.	.	ENSG00000181381	ENST00000514580	.	.	.	3.61	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8765	0.24149	0.6716:0.0:0.3284:0.0	.	.	.	.	X	174	.	.	Q	-	1	0	DDX60L	169549323	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	1.312000	0.33574	0.273000	0.22049	-0.373000	0.07131	CAA		TCGA-IB-7651-01A-11D-2154-08	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1	10	64	0	23	1	9.984952e-01	19	62	0	23	2		0	0	0	0	0	2	1	9.973693e-01	11	62	0	23	2								-8.150193	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.830000	1.000000	1.000000	0.989665	0.990000	1	9.900000e-01	1
DDX60L	91351	broad.mit.edu	37	4	169327130	169327130	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327130T>G	ENST00000511577.1	-	24	3431	c.3184A>C	c.(3184-3186)Aat>Cat	p.N1062H	DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H|DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like			43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			TTAATCCAATTTGTCAATTCT	0.303000																								0							SO:0001583	missense			ENST00000511577.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	8.303	0.820426	0.16678	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.18338	2.22;2.22;2.22;2.89	3.83	1.18	0.20946	.	1.533330	0.05234	U	0.510894	T	0.15132	0.0365	L	0.42245	1.32	0.09310	N	1	B;B;B	0.23442	0.085;0.085;0.085	B;B;B	0.22601	0.04;0.027;0.04	T	0.33007	-0.9885	10	0.42905	T	0.14	.	4.1836	0.10387	0.0:0.1978:0.1758:0.6265	.	1062;1062;1062	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	1062;1062;1062;758	ENSP00000260184:N1062H;ENSP00000422423:N1062H;ENSP00000422202:N1062H;ENSP00000421026:N758H	ENSP00000260184:N1062H	N	-	1	0	DDX60L	169563705	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.160000	0.16462	0.343000	0.23821	0.460000	0.39030	AAT		TCGA-IB-7651-01A-11D-2154-08	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1	13	48	0	20	1	9.997623e-01	18	44	0	20	2		0	0	0	0	0	2	1	9.997015e-01	12	48	0	19	2								-11.765630	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999689	0.990000	1	9.900000e-01	1
DDX60L	91351	broad.mit.edu	37	4	169327215	169327215	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327215C>T	ENST00000511577.1	-	24	3346	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	DDX60L_ENST00000505890.1_Silent_p.E1033E|DDX60L_ENST00000260184.7_Silent_p.E1033E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like			43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			GAATGAATTCCTCTGGACACA	0.289000																								0							SO:0001819	synonymous_variant			ENST00000511577.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1	19	102	0	36	1	9.905806e-01	20	24	0	36	2		0	0	0	0	0	2	1	9.999938e-01	19	100	0	36	2								-3.028233	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999547	0.990000	1	9.900000e-01	1
DDX60L	91351	broad.mit.edu	37	4	169343747	169343747	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169343747G>A	ENST00000511577.1	-	16	2419	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	DDX60L_ENST00000505890.1_Silent_p.G724G|DDX60L_ENST00000260184.7_Silent_p.G724G			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like			43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			TCAAGTAATGGCCCATGTATT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000511577.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1	25	103	0	25	1	9.990089e-01	13	36	0	25	2		0	0	0	0	0	2	1	9.999999e-01	25	102	0	25	2								-20.000000	1	1	121226	4	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
PALLD	23022	broad.mit.edu	37	4	169433122	169433122	+	Missense_Mutation	SNP	C	C	T	rs114877850	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433122C>T	ENST00000505667.1	+	2	640	c.467C>T	c.(466-468)aCg>aTg	p.T156M	PALLD_ENST00000261509.6_Missense_Mutation_p.T156M|PALLD_ENST00000333488.4_Missense_Mutation_p.T33M|PALLD_ENST00000335742.7_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein			48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)			AAGCCCAAAACGCCACATCAA	0.522000									Pancreatic Cancer, Familial Clustering of				Esophageal Squamous(109;1482 1532 18347 40239 51172)											0							SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	ENST00000505667.1	1	1	hg19	CCDS54818.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	12.62	1.993785	0.35131	0.0	4.65E-4	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.63255	0.07;0.34;-0.03;-0.0	5.55	2.78	0.32641	.	0.958654	0.08440	U	0.945659	T	0.43875	0.1267	N	0.14661	0.345	0.23346	N	0.997863	B;B	0.15141	0.012;0.012	B;B	0.06405	0.002;0.002	T	0.31971	-0.9924	10	0.45353	T	0.12	.	7.1341	0.25519	0.1355:0.7201:0.0:0.1444	.	156;156	B7ZMM5;B2RTX2	.;.	M	156;156;135;33	ENSP00000261509:T156M;ENSP00000425556:T156M;ENSP00000423063:T135M;ENSP00000328945:T33M	ENSP00000261509:T156M	T	+	2	0	PALLD	169669697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	0.669000	0.31146	-0.198000	0.12761	ACG		TCGA-IB-7651-01A-11D-2154-08	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	0	0	0	13	417	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	9.994887e-01	13	409	0	92	2								-12.306890	1	0	121412	33	48	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.370000	0.200000	1.000000	0.350000	0.413936	0.370000	0	2.700000e-01	5.000000e-01
SH3RF1	57630	broad.mit.edu	37	4	170037775	170037775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170037775G>A	ENST00000284637.9	-	10	2125	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1			31		Prostate(90;0.00267)|Renal(120;0.0183)			CTGGTTGTGCGCTGCAACTAG	0.532000																								0							SO:0001583	missense			ENST00000284637.9	1	1	hg19	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.922011	0.17982	.	.	ENSG00000154447	ENST00000284637	T	0.12465	2.68	5.64	4.68	0.58851	.	0.315261	0.39146	N	0.001448	T	0.09686	0.0238	N	0.25380	0.74	0.20489	N	0.999895	B	0.10296	0.003	B	0.04013	0.001	T	0.14337	-1.0476	10	0.37606	T	0.19	-18.7954	9.7127	0.40256	0.1787:0.0:0.8213:0.0	.	595	Q7Z6J0	SH3R1_HUMAN	V	595	ENSP00000284637:A595V	ENSP00000284637:A595V	A	-	2	0	SH3RF1	170274350	0.984000	0.35163	0.977000	0.42913	0.003000	0.03518	1.641000	0.37197	2.653000	0.90120	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	1	0	1	64	340	0	85	1	1	56	92	0	85	2		0	0	0	0	0	2	1	1	63	335	0	85	2								-3.229821	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3RF1	57630	broad.mit.edu	37	4	170043380	170043380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170043380G>A	ENST00000284637.9	-	7	1558	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1			31		Prostate(90;0.00267)|Renal(120;0.0183)			GACAGTGGCAGCCAGGAGAGG	0.527000																								0							SO:0001583	missense			ENST00000284637.9	0	1	hg19	CCDS34099.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.81	3.481472	0.63849	.	.	ENSG00000154447	ENST00000284637	T	0.13196	2.61	5.39	4.55	0.56014	.	0.327832	0.36167	N	0.002745	T	0.13072	0.0317	L	0.36672	1.1	0.40992	D	0.984865	B	0.10296	0.003	B	0.10450	0.005	T	0.04565	-1.0942	10	0.30078	T	0.28	-9.2068	15.6616	0.77190	0.0:0.0:0.862:0.138	.	406	Q7Z6J0	SH3R1_HUMAN	V	406	ENSP00000284637:A406V	ENSP00000284637:A406V	A	-	2	0	SH3RF1	170279955	1.000000	0.71417	0.979000	0.43373	0.975000	0.68041	3.950000	0.56676	1.250000	0.43966	0.585000	0.79938	GCT		TCGA-IB-7651-01A-11D-2154-08	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	0	0	0	6	123	0	22	1	9.745244e-01	11	131	0	22	2		0	0	0	0	0	2	1	9.617248e-01	6	118	0	22	2								-9.490149	1	1	121350	1	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.590000	0.240000	1.000000	1.000000	0.624257	0.590000	0	3.900000e-01	8.900000e-01
SH3RF1	57630	broad.mit.edu	37	4	170051308	170051308	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170051308C>T	ENST00000284637.9	-	6	1410		c.e6-1		SH3RF1_ENST00000508685.1_Splice_Site	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1			31		Prostate(90;0.00267)|Renal(120;0.0183)			TTATATGAACCTGCCGAGAAA	0.408000																								0							SO:0001630	splice_region_variant			ENST00000284637.9	1	1	hg19	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877903	0.51801	.	.	ENSG00000154447	ENST00000284637	.	.	.	5.49	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2401	0.65952	0.0:0.9284:0.0:0.0716	.	.	.	.	.	-1	.	.	.	-	.	.	SH3RF1	170287883	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.941000	0.75922	1.323000	0.45263	-0.142000	0.14014	.		TCGA-IB-7651-01A-11D-2154-08	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	1	0	0	20	96	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	9.999968e-01	19	94	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999862	0.990000	1	9.900000e-01	1
C4orf27	54969	broad.mit.edu	37	4	170671837	170671837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170671837G>A	ENST00000393381.2	-	3	323	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27			12		Prostate(90;0.00601)|Renal(120;0.0183)			GATATCATAAGGACCAACTAA	0.348000																								0							SO:0001583	missense			ENST00000393381.2	1	1	hg19	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856558	0.71834	.	.	ENSG00000056050	ENST00000393381	T	0.73789	-0.78	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91841	0.5483	10	0.87932	D	0	0.6098	18.4262	0.90610	0.0:0.0:1.0:0.0	.	83	Q9NWY4	CD027_HUMAN	L	83	ENSP00000406598:P83L	ENSP00000406598:P83L	P	-	2	0	C4orf27	170908412	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.263000	0.78421	2.363000	0.80096	0.398000	0.26397	CCT		TCGA-IB-7651-01A-11D-2154-08	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	1	0	1	100	597	0	164	1	9.999788e-01	25	67	0	164	2		0	0	0	0	0	2	1	1	98	584	0	162	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFAP3L	9848	broad.mit.edu	37	4	170912876	170912876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170912876G>A	ENST00000361618.3	-	3	1190	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like			22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)			GAGTCGCTCCGCTTCAGAGAG	0.582000																								0							SO:0001583	missense			ENST00000361618.3	1	1	hg19	CCDS34103.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.62	2.291683	0.40594	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98968	-5.28;-2.39	5.41	4.53	0.55603	.	0.053234	0.85682	D	0.000000	D	0.98551	0.9516	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99323	1.0907	10	0.72032	D	0.01	-15.6816	13.0861	0.59142	0.0:0.0:0.6621:0.3379	.	295	O75121	MFA3L_HUMAN	W	192;295	ENSP00000377307:R192W;ENSP00000354583:R295W	ENSP00000354583:R295W	R	-	1	2	MFAP3L	171149451	1.000000	0.71417	0.990000	0.47175	0.022000	0.10575	3.062000	0.49971	1.154000	0.42482	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	1	0	1	68	280	0	67	1	8.701497e-01	4	13	0	67	2		0	0	0	0	0	2	1	1	67	270	0	65	2								-3.470673	1	1	121412	4	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFAP3L	9848	broad.mit.edu	37	4	170926947	170926947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170926947C>T	ENST00000361618.3	-	2	389	c.82G>A	c.(82-84)Gct>Act	p.A28T	MFAP3L_ENST00000393702.3_Missense_Mutation_p.A28T|MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like			22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)			ACACTCTTAGCGGTGGCTAGA	0.458000																								0							SO:0001583	missense			ENST00000361618.3	1	1	hg19	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491441	0.44249	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.88431	-1.83;-2.38;-2.38;-2.37;-2.05	5.58	4.74	0.60224	.	0.260548	0.38381	N	0.001701	D	0.85137	0.5628	M	0.64997	1.995	0.34562	D	0.712501	P	0.50710	0.938	B	0.35607	0.206	D	0.88835	0.3308	10	0.38643	T	0.18	0.1232	14.6576	0.68844	0.1455:0.8545:0.0:0.0	.	28	O75121	MFA3L_HUMAN	T	28	ENSP00000354583:A28T;ENSP00000377305:A28T;ENSP00000422571:A28T;ENSP00000425303:A28T;ENSP00000426247:A28T	ENSP00000354583:A28T	A	-	1	0	MFAP3L	171163522	1.000000	0.71417	0.143000	0.22291	0.001000	0.01503	3.465000	0.53064	1.487000	0.48415	-0.152000	0.13540	GCT		TCGA-IB-7651-01A-11D-2154-08	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	1	0	0	24	291	0	55	0	2.740788e-01	1	12	0	55	2		0	0	0	0	0	2	1	9.999996e-01	24	282	0	55	2								-3.318786	1	1	121412	1	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.910000	0.600000	1.000000	1.000000	0.887439	0.910000	1	7.400000e-01	1
GALNTL6	442117	broad.mit.edu	37	4	173873248	173873248	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:173873248C>T	ENST00000506823.1	+	10	1867	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6			45					TTACCAGCGGCGGCCGGAGTA	0.512000																								0							SO:0001583	missense			ENST00000506823.1	1	1	hg19	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.387781	0.82902	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68903	-0.36;-0.36	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	T	0.80944	0.4721	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.83486	0.0067	10	0.87932	D	0	.	13.997	0.64409	0.1514:0.8486:0.0:0.0	.	404	Q49A17	GLTL6_HUMAN	W	404;387	ENSP00000423313:R404W;ENSP00000423827:R387W	ENSP00000423313:R404W	R	+	1	2	GALNTL6	174109823	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.742000	0.62103	2.582000	0.87167	0.297000	0.19635	CGG		TCGA-IB-7651-01A-11D-2154-08	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	1	0	1	60	319	0	73	0	0	0	1	0	73	2		0	0	0	0	0	2	1	1	60	305	0	70	2								-2.187056	0	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT7	51809	broad.mit.edu	37	4	174169569	174169569	+	Missense_Mutation	SNP	G	G	A	rs79967711	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174169569G>A	ENST00000265000.4	+	2	648	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	GALNT7_ENST00000512285.1_Missense_Mutation_p.V189I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7			19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)			GGACCGCAGCGTCAATGACTT	0.398000																								0							SO:0001583	missense			ENST00000265000.4	0	1	hg19	CCDS3815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.741	-0.262254	0.05791	0.0	1.16E-4	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.58940	0.3;0.3	5.93	0.628	0.17681	.	0.330029	0.35040	N	0.003483	T	0.28632	0.0709	N	0.05259	-0.085	0.47407	D	0.999412	B	0.09022	0.002	B	0.04013	0.001	T	0.08330	-1.0727	10	0.10111	T	0.7	.	9.7357	0.40386	0.5395:0.0:0.4605:0.0	.	189	Q86SF2	GALT7_HUMAN	I	189	ENSP00000265000:V189I;ENSP00000427050:V189I	ENSP00000265000:V189I	V	+	1	0	GALNT7	174406144	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	1.925000	0.40074	0.139000	0.18822	-0.140000	0.14226	GTC		TCGA-IB-7651-01A-11D-2154-08	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	0	0	0	8	390	0	79	0	3.541164e-01	1	55	0	79	2		0	0	0	0	0	2	1	9.892034e-01	8	387	0	79	2								-3.147864	1	1	121404	16	45	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.250000	0.110000	1.000000	0.230000	0.304215	0.250000	0	1.700000e-01	3.700000e-01
GALNT7	51809	broad.mit.edu	37	4	174235199	174235199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174235199G>A	ENST00000265000.4	+	9	1563	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7			19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)			ACCATATGGGGATATATCGGA	0.373000																								0							SO:0001583	missense			ENST00000265000.4	1	1	hg19	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.444255|5.444255	0.96187|0.96187	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|T	0.66280|0.66995	-0.2|-0.24	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78027|0.78027	0.4219|0.4219	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	D|.	0.59357|.	0.985|.	P|.	0.48921|.	0.595|.	T|T	0.79230|0.79230	-0.1889|-0.1889	10|7	0.46703|0.87932	T|D	0.11|0	.|.	19.605|19.605	0.95577|0.95577	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	494|.	Q86SF2|.	GALT7_HUMAN|.	N|E	494|64	ENSP00000265000:D494N|ENSP00000427341:G64E	ENSP00000265000:D494N|ENSP00000427341:G64E	D|G	+|+	1|2	0|0	GALNT7|GALNT7	174471774|174471774	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.885000|0.885000	0.51271|0.51271	9.869000|9.869000	0.99810|0.99810	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GAT|GGA		TCGA-IB-7651-01A-11D-2154-08	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	0	0	1	85	389	1	77	1	9.953692e-01	11	66	1	77	6		0	0	0	0	0	2	1	1	84	381	2	76	27								-3.382970	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMGB2	3148	broad.mit.edu	37	4	174254339	174254339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174254339C>T	ENST00000296503.5	-	3	1050	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HMGB2_ENST00000446922.2_Silent_p.K59K|HMGB2_ENST00000438704.2_Silent_p.K59K			P26583	HMGB2_HUMAN	high mobility group box 2			14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)			TATCTTCAAACTTCGACTTCT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000296503.5	1	1	hg19	CCDS3816.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	1	0	0	50	501	0	95	1	1	26	392	0	95	2		0	0	0	0	0	2	1	1	49	493	0	95	2								-14.847830	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.976977	0.990000	1	9.300000e-01	1
HAND2	9464	broad.mit.edu	37	4	174450017	174450017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174450017G>A	ENST00000359562.4	-	1	1363	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000508887.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2			13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)			GTGGCCAGGCGCAGGGTCTTG	0.612000																								0							SO:0001583	missense			ENST00000359562.4	1	1	hg19	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574715	0.65878	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.98280	-4.84	4.72	3.87	0.44632	Helix-loop-helix DNA-binding (5);	0.055039	0.64402	D	0.000001	D	0.99180	0.9716	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99218	1.0878	10	0.87932	D	0	-18.2081	14.3353	0.66584	0.0:0.0:0.8507:0.1493	.	142;142	B6ECG9;P61296	.;HAND2_HUMAN	C	142;111;90	ENSP00000352565:R142C	ENSP00000352565:R142C	R	-	1	0	HAND2	174686592	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.410000	0.73294	1.186000	0.42985	-0.314000	0.08810	CGC		TCGA-IB-7651-01A-11D-2154-08	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3	1	0	0	27	617	0	116	0	9.999837e-01	0	391	0	116	2		0	0	0	0	0	2	1	9.999999e-01	26	595	0	115	2								-3.879438	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.500000	0.330000	1.000000	0.500000	0.536570	0.500000	0	4.100000e-01	6.300000e-01
QDPR	5860	broad.mit.edu	37	4	17510920	17510920	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17510920C>T	ENST00000281243.5	-	2	351	c.172G>A	c.(172-174)Gac>Aac	p.D58N	QDPR_ENST00000428702.2_Intron|QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000508623.1_Missense_Mutation_p.D58N	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase			13					GTGAACGAGTCTGTCATTTTA	0.512000																								0							SO:0001583	missense			ENST00000281243.5	1	1	hg19	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992680	0.54041	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000508623	D;D;D	0.95949	-3.46;-3.86;-3.46	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.172007	0.49916	D	0.000135	D	0.93122	0.7810	L	0.45581	1.43	0.58432	D	0.999999	B	0.10296	0.003	B	0.13407	0.009	D	0.89649	0.3868	10	0.17832	T	0.49	-14.759	19.0666	0.93114	0.0:1.0:0.0:0.0	.	58	P09417	DHPR_HUMAN	N	58	ENSP00000422759:D58N;ENSP00000281243:D58N;ENSP00000426377:D58N	ENSP00000281243:D58N	D	-	1	0	QDPR	17120018	1.000000	0.71417	0.914000	0.36105	0.034000	0.12701	6.759000	0.74934	2.585000	0.87301	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	1	0	1	36	170	0	49	1	9.999992e-01	33	75	0	49	2		0	0	0	0	0	2	1	1	34	164	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GLRA3	8001	broad.mit.edu	37	4	175564991	175564991	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175564991G>A	ENST00000274093.3	-	10	1843	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	GLRA3_ENST00000340217.5_Silent_p.Y432Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3			35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AGATAACCCAGTAGAAAATAT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000274093.3	1	1	hg19	CCDS3822.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1	1	0	1	101	537	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	97	522	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLRA3	8001	broad.mit.edu	37	4	175636706	175636706	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175636706A>C	ENST00000274093.3	-	5	1009	c.507T>G	c.(505-507)ctT>ctG	p.L169L	GLRA3_ENST00000340217.5_Silent_p.L169L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3			35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTGGACAGGAAAGTGTTAATG	0.289000																								0							SO:0001819	synonymous_variant			ENST00000274093.3	1	1	hg19	CCDS3822.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1	1	0	1	64	213	0	66	0	5.491551e-02	0	2	0	66	2		0	0	0	0	0	2	1	1	61	208	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAP3	51056	broad.mit.edu	37	4	17583965	17583965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17583965G>A	ENST00000226299.4	+	4	602	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3			20					TGGAATCGACGAACAGGAAAA	0.443000																								0							SO:0001583	missense			ENST00000226299.4	1	1	hg19	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385022	0.42308	.	.	ENSG00000002549	ENST00000226299	T	0.44083	0.93	5.65	4.79	0.61399	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.634572	0.18480	N	0.139980	T	0.36524	0.0970	L	0.37507	1.11	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.27123	-1.0083	10	0.48119	T	0.1	-6.8573	15.4441	0.75216	0.0:0.39:0.61:0.0	.	110	P28838	AMPL_HUMAN	K	110	ENSP00000226299:E110K	ENSP00000226299:E110K	E	+	1	0	LAP3	17193063	0.985000	0.35326	0.104000	0.21259	0.937000	0.57800	2.303000	0.43646	1.485000	0.48380	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1	1	0	1	25	139	0	29	1	1	237	878	0	29	2		0	0	0	0	0	2	1	9.999999e-01	23	137	0	29	2								-3.048688	1	1	121412	1	23	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999840	0.990000	1	9.900000e-01	1
ADAM29	11086	broad.mit.edu	37	4	175898652	175898652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175898652G>T	ENST00000359240.3	+	5	2646	c.1976G>T	c.(1975-1977)gGa>gTa	p.G659V	ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V|ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29			93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			AAAGGCTATGGAGGTAGTGTT	0.398000													Ovarian(140;1727 1835 21805 25838 41440)											0							SO:0001583	missense			ENST00000359240.3	1	1	hg19	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497916	0.44455	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	3.32	3.32	0.38043	.	0.000000	0.34362	U	0.004024	D	0.89022	0.6597	M	0.84219	2.685	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	D	0.89814	0.3984	9	.	.	.	.	12.9119	0.58184	0.0:0.0:1.0:0.0	.	659	Q9UKF5	ADA29_HUMAN	V	659	ENSP00000352177:G659V;ENSP00000414544:G659V;ENSP00000384229:G659V;ENSP00000423517:G659V	.	G	+	2	0	ADAM29	176135227	1.000000	0.71417	0.984000	0.44739	0.355000	0.29361	7.100000	0.76989	2.150000	0.67090	0.643000	0.83706	GGA		TCGA-IB-7651-01A-11D-2154-08	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		1	0	0	20	215	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	9.999955e-01	20	211	0	57	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.640000	1.000000	1.000000	0.933020	0.990000	1	8.100000e-01	1
ADAM29	11086	broad.mit.edu	37	4	175899058	175899058	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175899058G>T	ENST00000359240.3	+	5	3052	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29			93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			CGCCTTCCCAGAGTCAACCTC	0.572000													Ovarian(140;1727 1835 21805 25838 41440)											0							SO:0001583	missense			ENST00000359240.3	1	1	hg19	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	9.694	1.152653	0.21371	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	0.727	0.727	0.18254	.	.	.	.	.	T	0.02012	0.0063	N	0.08118	0	0.22835	N	0.998676	D	0.54964	0.969	P	0.52909	0.713	T	0.52328	-0.8590	8	.	.	.	.	4.5501	0.12108	0.0:0.4193:0.5806:0.0	.	794	Q9UKF5	ADA29_HUMAN	H	794	ENSP00000352177:Q794H;ENSP00000414544:Q794H;ENSP00000384229:Q794H;ENSP00000423517:Q794H	.	Q	+	3	2	ADAM29	176135633	0.001000	0.12720	0.031000	0.17742	0.054000	0.15201	0.177000	0.16801	0.675000	0.31264	0.297000	0.19635	CAG		TCGA-IB-7651-01A-11D-2154-08	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		1	0	1	119	617	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	116	589	0	150	2								-3.019641	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPM6A	2823	broad.mit.edu	37	4	176573004	176573004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:176573004G>T	ENST00000280187.7	-	5	567	c.522C>A	c.(520-522)tgC>tgA	p.C174*	GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A			33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			GAAGGTCCAAGCAGAGATTTG	0.448000																								0							SO:0001587	stop_gained			ENST00000280187.7	0	1	hg19	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.723191	0.96847	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.9161	14.235	0.65919	0.0712:0.0:0.9288:0.0	.	.	.	.	X	174;174;163;167;166;111;111	.	ENSP00000280187:C174X	C	-	3	2	GPM6A	176809998	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	6.327000	0.72910	2.822000	0.97130	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1	1	0	1	60	352	0	92	0	8.093670e-01	0	20	0	92	2		0	0	0	0	0	2	1	1	57	346	0	92	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
WDR17	116966	broad.mit.edu	37	4	177069319	177069319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177069319G>A	ENST00000280190.4	+	14	1958	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y|WDR17_ENST00000393643.2_Missense_Mutation_p.C577Y|WDR17_ENST00000508596.1_Missense_Mutation_p.C577Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17			92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			CAGGATGCTTGCATCAATATT	0.363000																								0							SO:0001583	missense			ENST00000280190.4	1	1	hg19	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471884	0.84533	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.63255	-0.03;-0.03;-0.03	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79497	-0.1779	10	0.49607	T	0.09	-13.2668	19.9915	0.97366	0.0:0.0:1.0:0.0	.	577;601	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	577;577;601;584	ENSP00000422763:C577Y;ENSP00000377258:C577Y;ENSP00000280190:C601Y	ENSP00000280190:C601Y	C	+	2	0	WDR17	177306313	1.000000	0.71417	0.988000	0.46212	0.859000	0.49053	9.085000	0.94083	2.723000	0.93209	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	1	0	1	130	525	0	110	1	4.940144e-01	2	6	0	110	2		0	0	0	0	0	2	1	1	127	522	0	108	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR17	116966	broad.mit.edu	37	4	177073110	177073110	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073110C>A	ENST00000280190.4	+	18	2680	c.2524C>A	c.(2524-2526)Ctt>Att	p.L842I	WDR17_ENST00000507824.2_Missense_Mutation_p.L825I|WDR17_ENST00000393643.2_Missense_Mutation_p.L818I|WDR17_ENST00000508596.1_Missense_Mutation_p.L818I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17			92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			TATGGTTGAACTTGGAGAGGT	0.328000																								0							SO:0001583	missense			ENST00000280190.4	1	1	hg19	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.94|15.94	2.980614|2.980614	0.53827|0.53827	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.60424|.	0.23;0.25;0.19|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71921|0.71921	0.3397|0.3397	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.921;0.999;0.999|.	B;D;D|.	0.77557|.	0.346;0.99;0.99|.	T|T	0.68014|0.68014	-0.5521|-0.5521	10|5	0.33141|.	T|.	0.24|.	-22.248|-22.248	19.5608|19.5608	0.95371|0.95371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	818;818;842|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	I|N	818;818;842;825|84	ENSP00000422763:L818I;ENSP00000377258:L818I;ENSP00000280190:L842I|.	ENSP00000280190:L842I|.	L|T	+|+	1|2	0|0	WDR17|WDR17	177310104|177310104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.398000|7.398000	0.79919|0.79919	2.631000|2.631000	0.89168|0.89168	0.549000|0.549000	0.68633|0.68633	CTT|ACT		TCGA-IB-7651-01A-11D-2154-08	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	1	0	1	44	222	0	50	1	1.349498e-01	2	2	0	50	2		0	0	0	0	0	2	1	1	44	215	0	49	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ASB5	140458	broad.mit.edu	37	4	177138127	177138127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177138127G>A	ENST00000296525.3	-	6	817	c.704C>T	c.(703-705)aCt>aTt	p.T235I	ASB5_ENST00000512254.1_Missense_Mutation_p.T182I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5			34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			ATGTAATGGAGTATCCCAATA	0.388000																								0							SO:0001583	missense			ENST00000296525.3	1	1	hg19	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476462	0.84640	0.0	1.16E-4	ENSG00000164122	ENST00000296525;ENST00000512254	T;D	0.85484	-0.24;-1.99	5.45	4.55	0.56014	Ankyrin repeat-containing domain (4);	0.217812	0.47852	D	0.000203	D	0.92364	0.7577	M	0.87328	2.875	0.58432	D	0.999997	D;D	0.64830	0.989;0.994	P;D	0.63033	0.832;0.91	D	0.93496	0.6840	10	0.87932	D	0	-28.1797	16.0115	0.80406	0.0:0.1344:0.8656:0.0	.	235;182	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	I	235;182	ENSP00000296525:T235I;ENSP00000422877:T182I	ENSP00000296525:T235I	T	-	2	0	ASB5	177375121	1.000000	0.71417	0.966000	0.40874	0.837000	0.47467	7.124000	0.77185	2.712000	0.92718	0.591000	0.81541	ACT		TCGA-IB-7651-01A-11D-2154-08	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1	1	0	1	149	642	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	145	634	0	131	2								-20.000000	1	1	121412	1	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPCS3	60559	broad.mit.edu	37	4	177249379	177249379	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177249379T>G	ENST00000503362.1	+	5	554	c.441T>G	c.(439-441)tcT>tcG	p.S147S	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)			2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)			TGACCCTGTCTTGGAACGTCG	0.363000																								0							SO:0001819	synonymous_variant			ENST00000503362.1	1	1	hg19	CCDS54823.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	0	0	0	9	247	0	47	1	9.995451e-01	17	395	0	47	2		0	0	0	0	0	2	1	9.941432e-01	9	244	0	47	2								-10.678090	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.440000	0.210000	1.000000	0.410000	0.480880	0.440000	0	3.100000e-01	6.300000e-01
NEIL3	55247	broad.mit.edu	37	4	178260982	178260982	+	Missense_Mutation	SNP	A	A	G	rs147943632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178260982A>G	ENST00000264596.3	+	5	791	c.673A>G	c.(673-675)Ata>Gta	p.I225V		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)			29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)			CATGAAAATGATACGTGATTT	0.358000								Base excision repair (BER), DNA glycosylases																0							SO:0001583	missense			ENST00000264596.3	1	1	hg19	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273946	0.23221	2.27E-4	0.0	ENSG00000109674	ENST00000264596	T	0.21191	2.02	5.49	3.01	0.34805	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.561376	0.19738	N	0.107190	T	0.15132	0.0365	L	0.42632	1.34	0.28203	N	0.92729	B	0.11235	0.004	B	0.14023	0.01	T	0.35251	-0.9796	10	0.07325	T	0.83	-0.6797	9.803	0.40775	0.8597:0.0:0.1403:0.0	.	225	Q8TAT5	NEIL3_HUMAN	V	225	ENSP00000264596:I225V	ENSP00000264596:I225V	I	+	1	0	NEIL3	178497976	0.993000	0.37304	0.790000	0.31976	0.987000	0.75469	2.884000	0.48562	0.359000	0.24239	0.455000	0.32223	ATA		TCGA-IB-7651-01A-11D-2154-08	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	1	0	1	48	164	0	28	1	6.990093e-01	2	8	0	28	2		0	0	0	0	0	2	1	1	48	161	0	28	2								-20.000000	1	1	121406	5	39	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEIL3	55247	broad.mit.edu	37	4	178262667	178262667	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178262667A>C	ENST00000264596.3	+	6	858	c.740A>C	c.(739-741)aAg>aCg	p.K247T	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)			29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)			AAACACTATAAGGTTTACAAG	0.408000								Base excision repair (BER), DNA glycosylases																0							SO:0001583	missense			ENST00000264596.3	1	1	hg19	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811025	0.50421	.	.	ENSG00000109674	ENST00000264596	T	0.13657	2.57	5.76	4.6	0.57074	Zinc finger, DNA glycosylase/AP lyase-type (1);Ribosomal protein S13-like, H2TH (1);	0.104491	0.64402	D	0.000004	T	0.34483	0.0899	M	0.75264	2.295	0.49483	D	0.999798	D	0.89917	1.0	D	0.74674	0.984	T	0.05971	-1.0853	10	0.56958	D	0.05	-14.7212	11.2119	0.48804	0.9289:0.0:0.0711:0.0	.	247	Q8TAT5	NEIL3_HUMAN	T	247	ENSP00000264596:K247T	ENSP00000264596:K247T	K	+	2	0	NEIL3	178499661	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.990000	0.56965	2.202000	0.70862	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	1	0	1	65	226	0	52	1	4.041406e-01	2	4	0	52	2		0	0	0	0	0	2	1	1	65	219	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGA	175	broad.mit.edu	37	4	178358577	178358577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178358577G>A	ENST00000264595.2	-	5	731	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase			16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)			TCATGACCACGATCATCTTCT	0.373000																								0							SO:0001583	missense			ENST00000264595.2	1	1	hg19	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560688	0.27827	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.88277	-2.36;-1.92	5.53	-2.69	0.06022	.	0.903450	0.09711	N	0.765684	D	0.87962	0.6310	M	0.74647	2.275	0.09310	N	1	B	0.17465	0.022	B	0.18561	0.022	T	0.76594	-0.2902	10	0.42905	T	0.14	-21.2794	16.0354	0.80625	0.1574:0.0:0.8426:0.0	.	202	P20933	ASPG_HUMAN	C	202;87	ENSP00000264595:R202C;ENSP00000423798:R87C	ENSP00000264595:R202C	R	-	1	0	AGA	178595571	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.352000	0.34033	-0.276000	0.09206	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	1	0	1	32	164	0	51	1	9.999998e-01	17	116	0	51	2		0	0	0	0	0	2	1	1	30	162	0	51	2								-17.728420	1	1	121412	1	27	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
AGA	175	broad.mit.edu	37	4	178360778	178360778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178360778G>A	ENST00000264595.2	-	3	473	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase			16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)			AGTACTTTCCGTGCCACACCA	0.363000																								0							SO:0001583	missense			ENST00000264595.2	1	1	hg19	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923781	0.73213	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.90133	-2.62;-2.45	5.93	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.96592	0.8888	H	0.95470	3.675	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.96986	0.9718	10	0.59425	D	0.04	-20.7211	15.6822	0.77381	0.0:0.0:0.7797:0.2203	.	116	P20933	ASPG_HUMAN	W	116;1	ENSP00000264595:R116W;ENSP00000423798:R1W	ENSP00000264595:R116W	R	-	1	2	AGA	178597772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.024000	0.49674	2.805000	0.96524	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	1	0	1	165	883	0	222	1	9.999997e-01	20	91	0	222	2		0	0	0	0	0	2	1	1	162	863	0	220	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPG	64151	broad.mit.edu	37	4	17844978	17844978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17844978G>A	ENST00000251496.2	+	21	3154	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G			27					CTACCAAGACGAGCCAAAACC	0.363000																								0							SO:0001583	missense			ENST00000251496.2	1	1	hg19	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661373	0.96734	.	.	ENSG00000109805	ENST00000251496	T	0.38560	1.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.66073	-0.6014	10	0.72032	D	0.01	-10.9118	20.8794	0.99867	0.0:0.0:1.0:0.0	.	993	Q9BPX3	CND3_HUMAN	Q	993	ENSP00000251496:R993Q	ENSP00000251496:R993Q	R	+	2	0	NCAPG	17454076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.941000	0.99782	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	1	0	1	100	411	0	110	1	9.999834e-01	13	54	0	110	2		0	0	0	0	0	2	1	1	98	397	0	106	2								-3.255099	1	1	121412	2	33	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCORL	254251	broad.mit.edu	37	4	17910775	17910775	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17910775C>T	ENST00000382226.5	-	5	732	c.624G>A	c.(622-624)gaG>gaA	p.E208E	LCORL_ENST00000539056.1_Silent_p.E121E|LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000326877.4_Silent_p.E208E	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like			4					GGCCTTCCTGCTCTTCCTGAA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000382226.5	1	1	hg19	CCDS54749.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	96	441	0	79	1	9.994779e-01	16	37	0	79	2		0	0	0	0	0	2	1	1	95	433	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCORL	254251	broad.mit.edu	37	4	17963615	17963615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17963615G>A	ENST00000382226.5	-	4	449	c.341C>T	c.(340-342)aCa>aTa	p.T114I	LCORL_ENST00000539056.1_Missense_Mutation_p.T27I|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000326877.4_Missense_Mutation_p.T114I	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like			4					TAGCTCCTCTGTTGGTGTTGA	0.348000																								0							SO:0001583	missense			ENST00000382226.5	1	1	hg19	CCDS54749.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528768	0.85706	.	.	ENSG00000178177	ENST00000326877;ENST00000539056;ENST00000382224;ENST00000382226	.	.	.	5.89	5.89	0.94794	.	0.160650	0.56097	D	0.000028	T	0.74642	0.3743	L	0.40543	1.245	0.51767	D	0.999936	D;D	0.76494	0.997;0.999	D;D	0.85130	0.991;0.997	T	0.74377	-0.3685	9	0.59425	D	0.04	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	27;114	B4DSW0;Q8N3X6-3	.;.	I	114;27;30;114	.	ENSP00000317566:T114I	T	-	2	0	LCORL	17572713	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.159000	0.77483	2.793000	0.96121	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	40	209	0	48	1	9.989040e-01	18	39	0	48	2		0	0	0	0	0	2	1	1	40	205	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FGFR3	2261	broad.mit.edu	37	4	1801214	1801214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1801214C>T	ENST00000260795.2	+	2	445	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000340107.4_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3			3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCGGCTCACGCAGCGCGTACT	0.697000		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome						Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0							SO:0001587	stop_gained	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	ENST00000260795.2	0	1	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	14.20	2.463235	0.43736	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	.	.	.	3.45	3.45	0.39498	.	0.418094	0.24249	N	0.040184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	8.8206	0.35023	0.2245:0.7755:0.0:0.0	.	.	.	.	X	115	.	ENSP00000260795:Q115X	Q	+	1	0	FGFR3	1771012	0.000000	0.05858	0.058000	0.19502	0.197000	0.23852	-0.292000	0.08332	1.855000	0.53841	0.407000	0.27541	CAG		TCGA-IB-7651-01A-11D-2154-08	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	0	0	0	4	53	0	8	0	5.082081e-01	0	21	0	8	2		0	0	0	0	0	2	1	8.927914e-01	4	53	0	8	2								-10.500810	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.890000	0.310000	1.000000	1.000000	0.812058	0.890000	1	5.400000e-01	1
FGFR3	2261	broad.mit.edu	37	4	1805440	1805440	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805440G>A	ENST00000260795.2	+	7	1054	c.952G>A	c.(952-954)Gac>Aac	p.D318N	FGFR3_ENST00000440486.2_Missense_Mutation_p.D318N|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3			3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TAACACCACCGACAAGGAGCT	0.607000		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome						Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0							SO:0001583	missense	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	ENST00000260795.2	1	1	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.433429	0.62844	.	.	ENSG00000068078	ENST00000481110;ENST00000440486;ENST00000260795;ENST00000507588	D;D;D;T	0.96041	-3.89;-3.89;-3.89;-1.33	4.29	3.44	0.39384	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212673	0.48286	D	0.000196	D	0.92149	0.7511	L	0.33792	1.035	0.80722	D	1	P;P;B;P	0.47762	0.9;0.824;0.142;0.558	P;B;B;B	0.46026	0.501;0.336;0.081;0.076	D	0.89021	0.3435	10	0.25106	T	0.35	.	12.1103	0.53836	0.085:0.0:0.915:0.0	.	281;318;318;318	Q8NI15;P22607-4;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	N	318;318;318;104	ENSP00000420533:D318N;ENSP00000414914:D318N;ENSP00000260795:D318N;ENSP00000427289:D104N	ENSP00000260795:D318N	D	+	1	0	FGFR3	1775238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.623000	0.83113	0.908000	0.36671	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	1	0	1	39	186	0	49	0	5.439487e-01	0	10	0	49	2		0	0	0	0	0	2	1	1	39	184	0	48	2								-19.995380	1	1	121346	1	25	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FGFR3	2261	broad.mit.edu	37	4	1805556	1805556	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805556G>A	ENST00000260795.2	+	7	1170	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	FGFR3_ENST00000440486.2_Silent_p.V356V|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3			3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCTGGTGGTGCTGCCAGGTA	0.617000		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome						Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0							SO:0001819	synonymous_variant	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	ENST00000260795.2	1	1	hg19	CCDS3353.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	1	0	1	70	363	0	87	1	7.239940e-01	2	13	0	87	2		0	0	0	0	0	2	1	1	69	356	0	85	2								-4.858570	1	1	121376	8	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGFR3	2261	broad.mit.edu	37	4	1807392	1807392	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1807392G>A	ENST00000260795.2	+	11	1743	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	FGFR3_ENST00000440486.2_Silent_p.Q547Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q|FGFR3_ENST00000340107.4_Silent_p.Q549Q|FGFR3_ENST00000352904.1_Silent_p.Q435Q			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3			3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTGCACGCAGGGCGGTAGGT	0.647000		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome						Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0							SO:0001819	synonymous_variant	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	ENST00000260795.2	1	1	hg19	CCDS3353.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	1	0	1	66	296	0	49	1	9.907680e-01	2	33	0	49	2		0	0	0	0	0	2	1	1	63	289	0	49	2								-3.422876	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGFR3	2261	broad.mit.edu	37	4	1808341	1808341	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1808341T>C	ENST00000260795.2	+	15	2201	c.2099T>C	c.(2098-2100)gTg>gCg	p.V700A	FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A|FGFR3_ENST00000340107.4_Missense_Mutation_p.V702A|FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3			3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)	Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCATCCCTGTGGAGGAGCTC	0.647000		1	Mis, T	IGH@, ETV6	bladder, MM, T-cell lymphoma		Hypochondroplasia, Thanatophoric dysplasia		Saethre-Chotzen syndrome;Muenke syndrome						Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	L, E	0							SO:0001583	missense	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	ENST00000260795.2	1	1	hg19	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.786755	0.70337	.	.	ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78078	0.4227	N	0.04245	-0.25	0.80722	D	1	B;D;B	0.69078	0.206;0.997;0.321	P;D;P	0.80764	0.543;0.994;0.621	D	0.83890	0.0284	9	0.87932	D	0	.	14.0827	0.64934	0.0:0.0:0.0:1.0	.	702;588;700	P22607-2;P22607-3;P22607	.;.;FGFR3_HUMAN	A	702;700;588;700;588	ENSP00000339824:V702A;ENSP00000414914:V700A;ENSP00000412903:V588A;ENSP00000260795:V700A;ENSP00000231803:V588A	ENSP00000260795:V700A	V	+	2	0	FGFR3	1778139	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	7.703000	0.84585	1.790000	0.52503	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	1	0	1	50	174	0	47	0	9.979786e-01	1	34	0	47	2		0	0	0	0	0	2	1	1	50	173	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LETM1	3954	broad.mit.edu	37	4	1824770	1824770	+	Missense_Mutation	SNP	G	G	A	rs139115587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1824770G>A	ENST00000302787.2	-	9	1717	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1			13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		CTGGATGGCCGCCTCCTCCTG	0.657000																								0							SO:0001583	missense			ENST00000302787.2	1	1	hg19	CCDS3355.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.44	2.237076	0.39498	0.0	1.16E-4	ENSG00000168924	ENST00000302787	.	.	.	4.78	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	M	0.65498	2.005	0.53688	D	0.999977	D	0.67145	0.996	B	0.43251	0.413	T	0.58092	-0.7697	9	0.37606	T	0.19	-21.2189	13.297	0.60303	0.0:0.0:0.5072:0.4928	.	474	O95202	LETM1_HUMAN	V	474	.	ENSP00000305653:A474V	A	-	2	0	LETM1	1794568	0.283000	0.24277	0.997000	0.53966	0.836000	0.47400	0.929000	0.28844	0.916000	0.36871	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1	0	0	1	115	419	0	83	1	1	27	83	0	83	2		0	0	0	0	0	2	1	1	114	412	0	83	2								-20.000000	1	1	121410	18	46	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WWC2	80014	broad.mit.edu	37	4	184186218	184186218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184186218C>T	ENST00000403733.3	+	12	2196	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	WWC2_ENST00000504005.1_Missense_Mutation_p.S348F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F|WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2			32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)			TCTGATGAGTCTGTGGCTGGA	0.502000																								0							SO:0001583	missense			ENST00000403733.3	1	1	hg19	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665799	0.88251	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.66137	0.2759	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-15.9818	18.5932	0.91222	0.0:1.0:0.0:0.0	.	666;617	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	F	666;568;617;666;348	ENSP00000384222:S666F;ENSP00000368205:S568F;ENSP00000425054:S617F;ENSP00000398577:S666F;ENSP00000427569:S348F	ENSP00000368205:S568F	S	+	2	0	WWC2	184423212	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	7.011000	0.76359	2.610000	0.88304	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	1	0	0	14	184	0	37	1	9.033294e-01	7	49	0	37	2		0	0	0	0	0	2	1	9.997266e-01	13	178	0	35	2								-18.292590	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.720000	0.420000	0.970000	0.730000	0.724841	0.720000	0	5.600000e-01	8.800000e-01
WWC2	80014	broad.mit.edu	37	4	184192281	184192281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184192281T>C	ENST00000403733.3	+	16	2648	c.2449T>C	c.(2449-2451)Ttc>Ctc	p.F817L	WWC2_ENST00000504005.1_Missense_Mutation_p.F499L|WWC2_ENST00000448232.2_Missense_Mutation_p.F817L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2			32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)			CAGTGAGGTTTTCACTCTATG	0.363000																								0							SO:0001583	missense			ENST00000403733.3	0	1	hg19	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	T	9.951	1.220036	0.22373	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.52	4.35	0.52113	C2 calcium/lipid-binding domain, CaLB (1);	0.313337	0.32204	N	0.006421	T	0.29976	0.0750	L	0.39898	1.24	0.80722	D	1	B;B;B	0.28933	0.228;0.011;0.002	B;B;B	0.30855	0.121;0.017;0.003	T	0.04509	-1.0946	10	0.10377	T	0.69	-14.1055	8.5657	0.33538	0.0:0.146:0.0:0.854	.	817;817;768	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	L	817;768;817;499	ENSP00000384222:F817L;ENSP00000425054:F768L;ENSP00000398577:F817L;ENSP00000427569:F499L	ENSP00000384222:F817L	F	+	1	0	WWC2	184429275	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	3.275000	0.51639	1.121000	0.41925	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	0	0	0	29	123	0	31	1	9.994143e-01	12	41	0	31	2		0	0	0	0	0	2	1	1	29	119	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.960000	0.820000	1.000000	0.990000	0.952110	0.960000	1	9.000000e-01	9.900000e-01
CDKN2AIP	55602	broad.mit.edu	37	4	184367459	184367459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184367459C>T	ENST00000504169.1	+	3	829	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein			6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			TGATGGAGATCGATCTGTTTC	0.507000																								0							SO:0001587	stop_gained			ENST00000504169.1	0	1	hg19	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586677	0.28268	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.44	-6.48	0.01896	.	0.793526	0.10870	N	0.625049	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	2.12	3.8523	0.08960	0.5624:0.1348:0.1711:0.1318	.	.	.	.	X	208	.	ENSP00000427108:R208X	R	+	1	2	CDKN2AIP	184604453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.407000	0.02488	-0.857000	0.04115	-1.014000	0.02459	CGA		TCGA-IB-7651-01A-11D-2154-08	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	1	0	0	19	324	0	79	1	9.648006e-01	7	90	0	79	2		0	0	0	0	0	2	1	9.999889e-01	19	315	0	79	2								-19.929020	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.590000	0.370000	0.850000	0.580000	0.604518	0.590000	0	4.700000e-01	7.300000e-01
CDKN2AIP	55602	broad.mit.edu	37	4	184368400	184368400	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184368400A>T	ENST00000504169.1	+	3	1770	c.1563A>T	c.(1561-1563)gaA>gaT	p.E521D	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein			6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			AAAGCAAAGAAAATGCAAAAG	0.378000																								0							SO:0001583	missense			ENST00000504169.1	1	1	hg19	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253071	0.22965	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.36	1.63	0.23807	Double-stranded RNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.44767	0.1309	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.35276	-0.9795	9	0.38643	T	0.18	-18.9966	8.8164	0.34998	0.6934:0.0:0.3066:0.0	.	521	Q9NXV6	CARF_HUMAN	D	521	.	ENSP00000427108:E521D	E	+	3	2	CDKN2AIP	184605394	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.661000	0.25023	0.482000	0.27582	0.459000	0.35465	GAA		TCGA-IB-7651-01A-11D-2154-08	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	1	0	1	57	354	0	98	1	9.999908e-01	24	82	0	98	2		0	0	0	0	0	2	1	1	56	343	0	98	2								-19.999990	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.960000	0.860000	1.000000	0.990000	0.963916	0.960000	1	9.200000e-01	1
ING2	3622	broad.mit.edu	37	4	184431723	184431723	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184431723G>T	ENST00000302327.3	+	2	663	c.461G>T	c.(460-462)aGg>aTg	p.R154M	ING2_ENST00000434682.2_Missense_Mutation_p.R114M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2			7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)			AGACCCCGCAGGCAGCGGACC	0.463000																								0							SO:0001583	missense			ENST00000302327.3	1	1	hg19	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937902	0.73557	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	.	0.211158	0.45867	D	0.000337	T	0.78941	0.4363	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.76494	0.999;0.998	D;P	0.77557	0.99;0.819	T	0.78871	-0.2033	9	0.62326	D	0.03	-2.902	19.6941	0.96016	0.0:0.0:1.0:0.0	.	114;154	B6ZDS1;Q9H160	.;ING2_HUMAN	M	154;114;114	.	ENSP00000307183:R154M	R	+	2	0	ING2	184668717	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	1	0	1	49	210	0	65	1	9.999997e-01	36	65	0	65	2		0	0	0	0	0	2	1	1	49	207	0	65	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.970000	0.880000	1.000000	0.990000	0.971187	0.970000	1	9.300000e-01	1
STOX2	56977	broad.mit.edu	37	4	184922582	184922582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184922582C>T	ENST00000308497.4	+	2	1706	c.271C>T	c.(271-273)Cct>Tct	p.P91S	STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2			14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)			GGCAAGAAAGCCTGTCACCCA	0.547000																								0							SO:0001583	missense			ENST00000308497.4	1	1	hg19	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355539	0.61293	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.75050	-0.9;-0.9;-0.9	5.93	5.93	0.95920	Storkhead-box protein, winged-helix domain (1);	0.055947	0.64402	D	0.000001	T	0.58623	0.2135	N	0.05124	-0.11	0.80722	D	1	B	0.31705	0.336	B	0.34093	0.175	T	0.56498	-0.7969	9	.	.	.	-16.65	20.3539	0.98825	0.0:1.0:0.0:0.0	.	91	Q9P2F5	STOX2_HUMAN	S	91;91;29	ENSP00000311257:P91S;ENSP00000390127:P91S;ENSP00000425388:P29S	.	P	+	1	0	STOX2	185159576	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.554000	0.45845	2.826000	0.97356	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1	18	144	0	41	0	1.082808e-01	0	5	0	41	2		0	0	0	0	0	2	1	9.999864e-01	18	143	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.890000	0.630000	1.000000	0.990000	0.876273	0.890000	1	7.700000e-01	9.700000e-01
STOX2	56977	broad.mit.edu	37	4	184930594	184930594	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184930594C>T	ENST00000308497.4	+	3	2038	c.603C>T	c.(601-603)tgC>tgT	p.C201C	STOX2_ENST00000438269.1_Silent_p.C201C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2			14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)			CTTGCCACTGCTGCAGAGAAG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000308497.4	1	1	hg19	CCDS47167.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	0	29	332	0	97	0	6.999849e-03	0	2	0	97	2		0	0	0	0	0	2	1	1	29	328	0	96	2								-9.424652	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.810000	0.570000	0.990000	0.840000	0.815478	0.810000	0	6.900000e-01	9.300000e-01
STOX2	56977	broad.mit.edu	37	4	184931469	184931469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931469C>T	ENST00000308497.4	+	3	2913	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2			14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)			AGATCCAGGTCGATGGATAAC	0.572000																								0							SO:0001583	missense			ENST00000308497.4	0	1	hg19	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078638	0.76528	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;D	0.84730	-0.91;-1.89	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.968	D	0.89592	0.3828	10	0.72032	D	0.01	-15.3942	19.9142	0.97043	0.0:1.0:0.0:0.0	.	493;493	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	L	493	ENSP00000311257:S493L;ENSP00000390127:S493L	ENSP00000311257:S493L	S	+	2	0	STOX2	185168463	1.000000	0.71417	0.168000	0.22838	0.844000	0.47949	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1	9	31	0	11	0	0	0	1	0	11	2		0	0	0	0	0	2	1	9.955255e-01	9	30	0	11	2								-18.806890	1	0	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.900000	0.610000	1.000000	0.990000	0.882545	0.900000	1	7.700000e-01	9.800000e-01
STOX2	56977	broad.mit.edu	37	4	184931489	184931489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931489C>T	ENST00000308497.4	+	3	2933	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2			14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)			CTCCAAAGGCCCTCTGGGTGC	0.552000																								0							SO:0001583	missense			ENST00000308497.4	0	1	hg19	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893427	0.72639	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	N	0.20986	0.625	0.80722	D	1	P;D	0.89917	0.518;1.0	B;D	0.80764	0.225;0.994	T	0.80398	-0.1399	10	0.27082	T	0.32	-18.7983	19.9142	0.97043	0.0:1.0:0.0:0.0	.	500;500	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	S	500	ENSP00000311257:P500S;ENSP00000390127:P500S	ENSP00000311257:P500S	P	+	1	0	STOX2	185168483	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.519000	0.53458	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1	6	51	0	11	0	0	0	1	0	11	2		0	0	0	0	0	2	1	9.677842e-01	6	51	0	11	2								-11.983200	1	0	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.790000	0.390000	0.990000	0.990000	0.768589	0.790000	0	5.800000e-01	9.400000e-01
ENPP6	133121	broad.mit.edu	37	4	185038975	185038975	+	Silent	SNP	C	C	T	rs74865283	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185038975C>T	ENST00000296741.2	-	4	753	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6			15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			CTTTCCTCTGCGGAGATGCAG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000296741.2	1	0	hg19	CCDS3834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	1	0	1	79	320	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	77	309	0	91	2								-2.643893	1	1	121412	193	57	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.983518	0.980000	1	9.600000e-01	1
ENPP6	133121	broad.mit.edu	37	4	185074810	185074810	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185074810G>T	ENST00000296741.2	-	2	459	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6			15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			CTTTGTTGACGCCAATGTCAA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000296741.2	1	1	hg19	CCDS3834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	1	0	0	13	244	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	9.994995e-01	13	238	0	48	2								-3.211109	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.540000	0.300000	0.840000	0.530000	0.557727	0.540000	0	4.100000e-01	6.900000e-01
ACSL1	2180	broad.mit.edu	37	4	185678324	185678324	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185678324A>C	ENST00000515030.1	-	21	2377	c.2052T>G	c.(2050-2052)taT>taG	p.Y684*	ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1			38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCGACCTGAAATAGTTCCGCA	0.458000																								0							SO:0001587	stop_gained			ENST00000515030.1	0	1	hg19	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	A	37	6.532420	0.97641	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	6.06	-0.957	0.10350	.	0.448180	0.28600	N	0.014769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0165	7.8838	0.29637	0.4554:0.1186:0.426:0.0	.	.	.	.	X	513;684;280;684;650;513;684;684	.	ENSP00000281455:Y684X	Y	-	3	2	ACSL1	185915318	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	0.666000	0.25097	0.171000	0.19730	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	0	0	0	27	630	0	121	1	9.999946e-01	6	438	0	121	2		0	0	0	0	0	2	1	9.999999e-01	28	622	0	122	2								-4.377871	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.430000	0.290000	0.610000	0.440000	0.450589	0.430000	0	3.600000e-01	5.300000e-01
SLC25A4	291	broad.mit.edu	37	4	186067969	186067969	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186067969C>T	ENST00000281456.6	+	4	873	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4			10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473000																								0							SO:0001630	splice_region_variant			ENST00000281456.6	1	0	hg19	CCDS34114.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	1	0	0	21	191	0	50	1	9.999984e-01	38	175	0	50	2		0	0	0	0	0	2	1	9.999980e-01	21	189	0	48	2								-2.879482	1	1	121412	3	34	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.870000	0.620000	1.000000	0.990000	0.864828	0.870000	1	7.500000e-01	9.700000e-01
KIAA1430	0	broad.mit.edu	37	4	186084022	186084022	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186084022G>A	ENST00000458385.2	-	5	1648	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN				11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)			GGGGTCAACCGCTGATCGCTC	0.438000																								0							SO:0001583	missense			ENST00000458385.2	1	1	hg19	CCDS47168.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.214	0.224956	0.09916	.	.	ENSG00000164323	ENST00000458385	T	0.28666	1.6	4.7	-5.24	0.02789	.	.	.	.	.	T	0.10208	0.0250	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	9	0.15066	T	0.55	0.3863	5.5487	0.17079	0.398:0.2639:0.3381:0.0	.	510	Q9P2B7	K1430_HUMAN	V	510	ENSP00000409964:A510V	ENSP00000409964:A510V	A	-	2	0	KIAA1430	186321016	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.268000	0.08607	-1.005000	0.03417	-0.355000	0.07637	GCG		TCGA-IB-7651-01A-11D-2154-08	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2	1	0	1	12	84	0	25	1	9.997679e-01	12	101	0	25	2		0	0	0	0	0	2	1	9.992302e-01	12	82	0	25	2								-19.344140	1	1	120858	8	39	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.880000	0.580000	1.000000	0.990000	0.860926	0.880000	1	7.400000e-01	9.700000e-01
KIAA1430	0	broad.mit.edu	37	4	186085198	186085198	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186085198G>T	ENST00000458385.2	-	4	1575	c.1456C>A	c.(1456-1458)Caa>Aaa	p.Q486K		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN				11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)			GGGCTATATTGGCCAAGAGTG	0.343000																								0							SO:0001583	missense			ENST00000458385.2	1	1	hg19	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001628	0.35320	.	.	ENSG00000164323	ENST00000458385	T	0.30981	1.51	5.33	5.33	0.75918	.	.	.	.	.	T	0.21509	0.0518	N	0.19112	0.55	0.80722	D	1	P	0.40970	0.734	B	0.40329	0.326	T	0.02661	-1.1127	9	0.07990	T	0.79	-1.5405	17.1773	0.86844	0.0:0.0:1.0:0.0	.	486	Q9P2B7	K1430_HUMAN	K	486	ENSP00000409964:Q486K	ENSP00000409964:Q486K	Q	-	1	0	KIAA1430	186322192	1.000000	0.71417	0.895000	0.35142	0.300000	0.27592	5.747000	0.68689	2.637000	0.89404	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2	1	0	1	37	302	0	58	1	9.999978e-01	19	145	0	58	2		0	0	0	0	0	2	1	1	37	298	0	57	2								-3.142704	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.930000	0.740000	1.000000	0.990000	0.919974	0.930000	1	8.400000e-01	9.900000e-01
KIAA1430	0	broad.mit.edu	37	4	186111392	186111392	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111392G>A	ENST00000458385.2	-	2	1078	c.959C>T	c.(958-960)tCc>tTc	p.S320F	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN				11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)			CGACTTTGAGGAGACATCAGG	0.353000																								0							SO:0001583	missense			ENST00000458385.2	1	1	hg19	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.840766	0.00573	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.42513	1.56;0.97;0.97	4.96	0.873	0.19118	.	0.644381	0.14490	N	0.316429	T	0.21761	0.0524	N	0.22421	0.69	0.09310	N	1	P;B	0.39157	0.662;0.159	B;B	0.33196	0.159;0.024	T	0.12091	-1.0561	10	0.59425	D	0.04	2.7903	3.7265	0.08477	0.1869:0.0:0.477:0.3361	.	320;320	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	F	320	ENSP00000409964:S320F;ENSP00000423312:S320F;ENSP00000296775:S320F	ENSP00000296775:S320F	S	-	2	0	KIAA1430	186348386	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.391000	0.20784	0.320000	0.23234	0.609000	0.83330	TCC		TCGA-IB-7651-01A-11D-2154-08	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2	1	0	1	31	88	0	34	1	1	47	111	0	34	2		0	0	0	0	0	2	1	1	31	85	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.960000	0.850000	1.000000	0.990000	0.963104	0.960000	1	9.200000e-01	1
KIAA1430	0	broad.mit.edu	37	4	186111567	186111567	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111567C>A	ENST00000458385.2	-	2	903	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN				11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)			GGGCTAATGTCTGGAGTTGAT	0.398000																								0							SO:0001583	missense			ENST00000458385.2	1	1	hg19	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777121	0.70107	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.60920	0.7;0.15;0.15	5.55	5.55	0.83447	.	0.065347	0.64402	D	0.000013	T	0.77039	0.4072	M	0.72894	2.215	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78285	-0.2263	10	0.87932	D	0	-15.6196	19.8686	0.96842	0.0:1.0:0.0:0.0	.	262;262	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	Y	262	ENSP00000409964:D262Y;ENSP00000423312:D262Y;ENSP00000296775:D262Y	ENSP00000296775:D262Y	D	-	1	0	KIAA1430	186348561	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.228000	0.72288	2.768000	0.95171	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2	1	0	1	29	95	0	34	1	1	27	85	0	34	2		0	0	0	0	0	2	1	1	29	94	0	34	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.958206	0.960000	1	9.100000e-01	1
SNX25	83891	broad.mit.edu	37	4	186278860	186278860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186278860G>A	ENST00000504273.1	+	16	2422	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	SNX25_ENST00000264694.8_Missense_Mutation_p.V710I|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25			40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)			AATTGCCCTCGTTCAGGTCAC	0.373000																								0							SO:0001583	missense			ENST00000504273.1	1	1	hg19	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546948	0.96488	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.33438	1.41;1.41	5.9	5.9	0.94986	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.83275	0.943;0.909;0.996	T	0.45542	-0.9254	10	0.35671	T	0.21	-22.4775	20.2822	0.98520	0.0:0.0:1.0:0.0	.	426;243;710	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	I	710;710;243	ENSP00000426255:V710I;ENSP00000264694:V710I	ENSP00000264693:V243I	V	+	1	0	SNX25	186515854	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	1	0	1	44	343	0	82	1	9.868357e-01	5	50	0	82	2		0	0	0	0	0	2	1	1	43	331	0	81	2								-16.528900	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.940000	0.780000	1.000000	0.990000	0.935086	0.940000	1	8.700000e-01	9.900000e-01
UFSP2	55325	broad.mit.edu	37	4	186329507	186329507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329507C>T	ENST00000264689.6	-	8	1030	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2			12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			CTGCAGAGATCGATAAGCACA	0.428000																								0							SO:0001583	missense			ENST00000264689.6	1	1	hg19	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.235189|5.235189	0.95207|0.95207	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.41400	.|1.0	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79287|0.79287	0.4420|0.4420	H|H	0.97611|0.97611	4.04|4.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.85593|0.85593	0.1247|0.1247	5|10	.|0.87932	.|D	.|0	-8.9285|-8.9285	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|305;205	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	N|Q	34|305	.|ENSP00000264689:R305Q	.|ENSP00000264689:R305Q	D|R	-|-	1|2	0|0	UFSP2|UFSP2	186566501|186566501	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.712000|0.712000	0.41017|0.41017	7.478000|7.478000	0.81082|0.81082	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CGA		TCGA-IB-7651-01A-11D-2154-08	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	1	0	1	38	382	0	85	1	9.994541e-01	16	99	0	85	2		0	0	0	0	0	2	1	1	37	375	0	83	2								-3.221883	1	0	121412	1	35	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.880000	0.670000	1.000000	0.950000	0.876511	0.880000	1	7.800000e-01	9.700000e-01
UFSP2	55325	broad.mit.edu	37	4	186329545	186329545	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329545C>A	ENST00000264689.6	-	8	992	c.876G>T	c.(874-876)caG>caT	p.Q292H		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2			12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			CTATGCGATCCTGCATATAAT	0.398000																								0							SO:0001583	missense			ENST00000264689.6	1	1	hg19	CCDS3842.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.55|11.55|11.55	1.672574|1.672574|1.672574	0.29693|0.29693|0.29693	.|.|.	.|.|.	ENSG00000109775|ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689|ENST00000509180	.|T|.	.|0.31769|.	.|1.48|.	6.03|6.03|6.03	1.59|1.59|1.59	0.23543|0.23543|0.23543	.|.|.	.|0.132090|.	.|0.64402|.	.|D|.	.|0.000018|.	.|T|T	.|0.74238|0.74238	.|0.3690|0.3690	M|M|M	0.87758|0.87758|0.87758	2.905|2.905|2.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	.|T|T	.|0.71935|0.71935	.|-0.4442|-0.4442	.|10|5	.|0.25751|.	.|T|.	.|0.34|.	.|-3.6114|-3.6114	9.224|9.224|9.224	0.37395|0.37395|0.37395	0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608|0.0:0.5392:0.0:0.4608	.|.|.	.|292|.	.|Q9NUQ7|.	.|UFSP2_HUMAN|.	.|H|M	-1|292|21	.|ENSP00000264689:Q292H|.	.|ENSP00000264689:Q292H|.	.|Q|R	-|-|-	.|3|2	.|2|0	UFSP2|UFSP2|UFSP2	186566539|186566539|186566539	0.952000|0.952000|0.952000	0.32445|0.32445|0.32445	0.981000|0.981000|0.981000	0.43875|0.43875|0.43875	0.444000|0.444000|0.444000	0.32077|0.32077|0.32077	0.132000|0.132000|0.132000	0.15891|0.15891|0.15891	-0.039000|-0.039000|-0.039000	0.13602|0.13602|0.13602	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|CAG|AGG		TCGA-IB-7651-01A-11D-2154-08	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	1	0	1	73	315	0	85	1	9.999999e-01	20	87	0	85	2		0	0	0	0	0	2	1	1	73	311	0	84	2								-3.295116	1	0	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981070	0.980000	1	9.500000e-01	1
UFSP2	55325	broad.mit.edu	37	4	186339802	186339802	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186339802T>G	ENST00000264689.6	-	3	321	c.205A>C	c.(205-207)Aac>Cac	p.N69H	UFSP2_ENST00000502282.1_5'UTR|Y_RNA_ENST00000384502.1_RNA	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2			12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			GGAATGGTGTTTATGTCACTG	0.398000																								0							SO:0001583	missense			ENST00000264689.6	1	1	hg19	CCDS3842.1	.	.	.	.	.	.	.	.	.	.	T	5.020	0.189439	0.09547	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.46451	1.51;0.87	5.87	5.87	0.94306	.	0.300775	0.37136	N	0.002226	T	0.34106	0.0886	L	0.43152	1.355	0.23249	N	0.998048	B	0.29805	0.257	B	0.29176	0.099	T	0.26985	-1.0087	10	0.33940	T	0.23	-14.7842	9.8989	0.41335	0.2584:0.0:0.0:0.7416	.	69	Q9NUQ7	UFSP2_HUMAN	H	69;63	ENSP00000264689:N69H;ENSP00000423108:N63H	ENSP00000264689:N69H	N	-	1	0	UFSP2	186576796	0.989000	0.36119	0.865000	0.33974	0.052000	0.14988	2.247000	0.43151	2.242000	0.73789	0.482000	0.46254	AAC		TCGA-IB-7651-01A-11D-2154-08	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	1	0	1	43	403	0	108	1	9.992744e-01	17	86	0	108	2		0	0	0	0	0	2	1	1	43	399	0	108	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.910000	0.710000	1.000000	0.990000	0.902147	0.910000	1	8.100000e-01	9.800000e-01
CCDC110	256309	broad.mit.edu	37	4	186379534	186379534	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186379534A>T	ENST00000307588.3	-	6	2282	c.2207T>A	c.(2206-2208)aTc>aAc	p.I736N	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N|CCDC110_ENST00000510617.1_Missense_Mutation_p.I736N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110			30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)			AAGTCTACTGATGCTGTTTTC	0.299000																								0							SO:0001583	missense			ENST00000307588.3	0	1	hg19	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758661	0.49468	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.31769	1.48;1.48;1.48	5.54	5.54	0.83059	.	0.108971	0.40640	N	0.001057	T	0.52645	0.1747	M	0.67953	2.075	0.30694	N	0.750976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.56263	-0.8008	10	0.36615	T	0.2	-5.7167	14.1879	0.65617	1.0:0.0:0.0:0.0	.	736;699;736	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	N	699;736;736	ENSP00000377172:I699N;ENSP00000306776:I736N;ENSP00000427246:I736N	ENSP00000306776:I736N	I	-	2	0	CCDC110	186616528	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.306000	0.59117	2.220000	0.72140	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	1	0	0	6	89	0	17	0	3.122239e-02	0	4	0	17	2		0	0	0	0	0	2	1	9.654614e-01	6	88	0	17	2								-10.142580	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.630000	0.280000	0.960000	0.630000	0.640576	0.630000	0	4.300000e-01	8.400000e-01
PDLIM3	27295	broad.mit.edu	37	4	186423604	186423604	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423604C>T	ENST00000284770.5	-	8	1012	c.939G>A	c.(937-939)cgG>cgA	p.R313R	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.R265R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3			17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)			ACTCAGGGTGCCGGTACTTAT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000284770.5	1	1	hg19	CCDS3844.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	1	0	1	85	402	0	88	0	1	0	344	0	88	2		0	0	0	0	0	2	1	1	84	397	0	88	2								-20.000000	1	0	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.920000	1.000000	0.990000	0.982645	0.980000	1	9.500000e-01	1
PDLIM3	27295	broad.mit.edu	37	4	186425686	186425686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425686C>T	ENST00000284770.5	-	7	921	c.848G>A	c.(847-849)gGc>gAc	p.G283D	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3			17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)			GCCTGAACCGCCATGGACTTT	0.532000																								0							SO:0001583	missense			ENST00000284770.5	1	1	hg19	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712702	0.48517	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.36340	1.26;2.13	5.53	4.64	0.57946	.	0.243150	0.49305	D	0.000153	T	0.31670	0.0804	L	0.34521	1.04	0.80722	D	1	B;B	0.25486	0.127;0.078	B;B	0.31751	0.135;0.082	T	0.16958	-1.0385	10	0.72032	D	0.01	-12.4155	13.0657	0.59032	0.0:0.6237:0.3763:0.0	.	235;283	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	D	283;235	ENSP00000284770:G283D;ENSP00000284771:G235D	ENSP00000284770:G283D	G	-	2	0	PDLIM3	186662680	0.799000	0.28903	0.028000	0.17463	0.008000	0.06430	4.880000	0.63107	2.770000	0.95276	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	1	0	1	30	159	0	42	0	1	1	363	0	42	2		0	0	0	0	0	2	1	1	29	153	0	42	2								-20.000000	1	0	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.950000	0.800000	1.000000	0.990000	0.945327	0.950000	1	8.900000e-01	9.900000e-01
PDLIM3	27295	broad.mit.edu	37	4	186456534	186456534	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186456534C>A	ENST00000284770.5	-	1	128	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PDLIM3_ENST00000284767.5_Missense_Mutation_p.G19W|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3			17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)			TCTATGCCCCCTGAGAGCCTG	0.682000																								0							SO:0001583	missense			ENST00000284770.5	1	1	hg19	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833022	0.91036	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.34072	1.38;1.38;1.38	5.56	5.56	0.83823	PDZ/DHR/GLGF (4);	0.098086	0.64402	D	0.000001	T	0.72391	0.3454	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.80670	-0.1279	10	0.87932	D	0	-14.7514	19.1243	0.93376	0.0:1.0:0.0:0.0	.	19;19;19	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	W	19	ENSP00000284770:G19W;ENSP00000284771:G19W;ENSP00000284767:G19W	ENSP00000284767:G19W	G	-	1	0	PDLIM3	186693528	1.000000	0.71417	0.977000	0.42913	0.912000	0.54170	6.262000	0.72514	2.619000	0.88677	0.555000	0.69702	GGG		TCGA-IB-7651-01A-11D-2154-08	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	1	0	0	15	81	0	14	0	9.999881e-01	0	121	0	14	2		0	0	0	0	0	2	1	9.999109e-01	15	80	0	14	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.910000	0.670000	1.000000	0.990000	0.901843	0.910000	1	8.100000e-01	9.800000e-01
SORBS2	8470	broad.mit.edu	37	4	186545525	186545525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186545525G>A	ENST00000284776.7	-	13	1555	c.1046C>T	c.(1045-1047)cCa>cTa	p.P349L	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P349L|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P449L|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2			53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)			AATGGCTCTTGGTGAGTCCCG	0.522000													Esophageal Squamous(153;41 2433 9491 36028)											0							SO:0001583	missense			ENST00000284776.7	1	1	hg19	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	3.587	-0.084326	0.07097	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.33654	1.5;1.5;1.4;1.5	5.87	-2.43	0.06522	.	0.719070	0.14393	N	0.322388	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B;B;B	0.20887	0.013;0.049;0.028	B;B;B	0.12837	0.006;0.008;0.008	T	0.13872	-1.0493	10	0.48119	T	0.1	-1.8135	6.9316	0.24444	0.1099:0.0964:0.6321:0.1616	.	253;449;349	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	L	349;349;253;449	ENSP00000284776:P349L;ENSP00000411764:P349L;ENSP00000397482:P253L;ENSP00000347852:P449L	ENSP00000284776:P349L	P	-	2	0	SORBS2	186782519	0.672000	0.27530	0.002000	0.10522	0.026000	0.11368	0.538000	0.23160	-0.343000	0.08351	-0.538000	0.04264	CCA		TCGA-IB-7651-01A-11D-2154-08	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	1	0	0	34	340	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	34	332	0	80	2								-2.806910	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.880000	0.660000	1.000000	0.960000	0.871993	0.880000	1	7.700000e-01	9.700000e-01
TLR3	7098	broad.mit.edu	37	4	186997978	186997978	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186997978G>A	ENST00000296795.3	+	2	309	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3			29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			ATTACCAGCCGCCAACTTCAC	0.443000																								0							SO:0001583	missense			ENST00000296795.3	1	1	hg19	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509490	0.27036	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.79554	0.42;-1.28	5.47	3.74	0.42951	.	0.523286	0.21012	N	0.081664	T	0.64136	0.2571	N	0.13098	0.295	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.53229	-0.8468	10	0.16420	T	0.52	.	11.372	0.49704	0.0664:0.0:0.8068:0.1268	.	69	O15455	TLR3_HUMAN	T	69	ENSP00000296795:A69T;ENSP00000423386:A69T	ENSP00000296795:A69T	A	+	1	0	TLR3	187234972	0.553000	0.26513	0.993000	0.49108	0.020000	0.10135	3.182000	0.50910	0.776000	0.33473	-0.188000	0.12872	GCC		TCGA-IB-7651-01A-11D-2154-08	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	1	0	1	89	333	0	91	1	9.999975e-01	18	54	0	91	2		0	0	0	0	0	2	1	1	89	328	0	91	2								-3.581404	1	1	121412	2	38	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.986444	0.980000	1	9.600000e-01	1
TLR3	7098	broad.mit.edu	37	4	187000170	187000170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187000170G>A	ENST00000296795.3	+	3	722	c.618G>A	c.(616-618)tcG>tcA	p.S206S	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3			29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			AGTTGTCATCGAATCAAATTA	0.323000																								0							SO:0001819	synonymous_variant			ENST00000296795.3	1	1	hg19	CCDS3846.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	1	0	1	24	106	0	38	1	9.945076e-01	9	31	0	38	2		0	0	0	0	0	2	1	9.999999e-01	24	106	0	37	2								-15.959850	1	1	121346	1	28	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.950000	0.780000	1.000000	0.990000	0.941606	0.950000	1	8.800000e-01	9.900000e-01
TLR3	7098	broad.mit.edu	37	4	187004176	187004176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187004176G>T	ENST00000296795.3	+	4	1440	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*	TLR3_ENST00000504367.1_Nonsense_Mutation_p.E169*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	p.E446*(1)		29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			AATTGGGCAAGAACTCACAGG	0.423000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000296795.3	0	1	hg19	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	37	6.300725	0.97453	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	.	.	.	5.78	2.94	0.34122	.	0.508073	0.24012	N	0.042375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	3.6193	0.08089	0.2006:0.1151:0.5659:0.1184	.	.	.	.	X	446;446;169	.	ENSP00000296795:E446X	E	+	1	0	TLR3	187241170	0.361000	0.24972	0.991000	0.47740	0.946000	0.59487	1.072000	0.30678	0.766000	0.33244	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	1	0	1	51	285	0	76	1	9.999756e-01	7	83	0	76	2		0	0	0	0	0	2	1	1	50	282	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.970000	0.860000	1.000000	0.990000	0.964790	0.970000	1	9.200000e-01	1
FAM149A	25854	broad.mit.edu	37	4	187074871	187074871	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187074871C>T	ENST00000356371.5	+	5	1032	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S|FAM149A_ENST00000514153.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A			25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			CTCCTGCCTCCGCAGTCCACA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000356371.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	200	779	0	186	1	9.983276e-01	15	24	0	186	2		0	0	0	0	0	2	1	1	198	773	0	184	2								-3.112821	1	1	121412	6	41	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.990000	0.960000	1.000000	1.000000	0.994923	0.990000	1	9.800000e-01	1
FAM149A	25854	broad.mit.edu	37	4	187077278	187077278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187077278G>A	ENST00000356371.5	+	7	1381	c.1381G>A	c.(1381-1383)Gtc>Atc	p.V461I	FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	p.V170I(1)		25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			GTTTGATCACGTCTGGACAAA	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000356371.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.974	0.549723	0.13374	2.27E-4	0.0	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.16196	2.42;2.36;2.42;2.42;2.42;2.42	5.46	2.83	0.33086	.	0.777035	0.12119	N	0.497815	T	0.15522	0.0374	M	0.61703	1.905	0.09310	N	1	P;B;B	0.37500	0.597;0.339;0.304	B;B;B	0.26094	0.066;0.018;0.012	T	0.09335	-1.0679	10	0.36615	T	0.2	-12.3057	9.8554	0.41082	0.2838:0.0:0.7162:0.0	.	461;461;170	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	I	170;461;170;170;170;170	ENSP00000426835:V170I;ENSP00000348732:V461I;ENSP00000227065:V170I;ENSP00000427155:V170I;ENSP00000424380:V170I;ENSP00000374005:V170I	ENSP00000227065:V170I	V	+	1	0	FAM149A	187314272	0.036000	0.19791	0.305000	0.25099	0.089000	0.18198	0.262000	0.18460	0.445000	0.26639	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	76	516	0	98	1	9.619739e-01	3	35	0	98	2		0	0	0	0	0	2	1	1	75	512	0	98	2								-20.000000	1	1	121412	15	45	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.970000	0.870000	1.000000	0.990000	0.968399	0.970000	1	9.300000e-01	1
FAM149A	25854	broad.mit.edu	37	4	187078767	187078767	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187078767C>T	ENST00000356371.5	+	8	1496	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L	FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A			25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			AACAGATTTCCGCACGTCCTC	0.512000																								0							SO:0001583	missense			ENST00000356371.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.45	1.353175	0.24512	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.13307	2.63;2.6;2.63;2.63;2.63;2.63	4.77	2.07	0.26955	.	0.475510	0.22929	N	0.053939	T	0.10165	0.0249	L	0.48362	1.52	0.09310	N	1	B;B;B	0.28850	0.054;0.032;0.225	B;B;B	0.17722	0.011;0.006;0.019	T	0.21449	-1.0245	10	0.51188	T	0.08	-2.3135	5.3957	0.16268	0.1608:0.6666:0.0:0.1725	.	499;499;208	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	L	208;499;208;208;208;208	ENSP00000426835:P208L;ENSP00000348732:P499L;ENSP00000227065:P208L;ENSP00000427155:P208L;ENSP00000424380:P208L;ENSP00000374005:P208L	ENSP00000227065:P208L	P	+	2	0	FAM149A	187315761	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.478000	0.22212	0.326000	0.23384	-0.272000	0.10252	CCG		TCGA-IB-7651-01A-11D-2154-08	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	53	314	0	81	1	9.840818e-01	6	35	0	81	2		0	0	0	0	0	2	1	1	53	309	0	81	2								-2.667051	1	1	121412	11	40	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.960000	0.860000	1.000000	0.990000	0.963652	0.960000	1	9.200000e-01	1
FAM149A	25854	broad.mit.edu	37	4	187084635	187084635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187084635G>A	ENST00000356371.5	+	10	1764	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P	FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P|FAM149A_ENST00000514153.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A			25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			CCTCCGCACCGCACAGACTGG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000356371.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	39	305	0	77	1	9.209622e-01	5	31	0	77	2		0	0	0	0	0	2	1	1	39	298	0	77	2								-2.505885	1	1	121412	1	34	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.930000	0.760000	1.000000	0.990000	0.928600	0.930000	1	8.600000e-01	9.900000e-01
FAM149A	25854	broad.mit.edu	37	4	187088339	187088339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187088339C>T	ENST00000356371.5	+	13	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L|FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A			25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			TTCCAGCAGTCGGATACGCCT	0.378000																								0							SO:0001583	missense			ENST00000356371.5	1	1	hg19		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	8.648|8.648	0.897607|0.897607	0.17686|0.17686	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|T;T;T;T;T;T	.|0.14391	.|2.56;2.51;2.56;2.56;2.56;2.56	5.62|5.62	-0.166|-0.166	0.13351|0.13351	.|.	.|0.864286	.|0.10118	.|N	.|0.713851	T|T	0.12603|0.12603	0.0306|0.0306	L|L	0.41824|0.41824	1.3|1.3	0.20403|0.20403	N|N	0.999901|0.999901	.|B;B	.|0.17667	.|0.023;0.017	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.42905	.|T	.|0.14	-0.0171|-0.0171	12.6812|12.6812	0.56922|0.56922	0.0:0.6903:0.0:0.3097|0.0:0.6903:0.0:0.3097	.|.	.|723;724	.|A5PLN7-3;A5PLN7	.|.;F149A_HUMAN	W|L	111|433;724;433;433;433;433	.|ENSP00000426835:S433L;ENSP00000348732:S724L;ENSP00000227065:S433L;ENSP00000427155:S433L;ENSP00000424380:S433L;ENSP00000374005:S433L	.|ENSP00000227065:S433L	R|S	+|+	1|2	2|0	FAM149A|FAM149A	187325333|187325333	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.223000|-0.223000	0.09177|0.09177	-0.404000|-0.404000	0.07610|0.07610	-2.368000|-2.368000	0.00236|0.00236	CGG|TCG		TCGA-IB-7651-01A-11D-2154-08	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	136	452	0	116	1	9.995437e-01	6	34	0	116	2		0	0	0	0	0	2	1	1	134	446	0	115	2								-4.861274	1	1	121412	2	38	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992557	0.990000	1	9.700000e-01	1
CYP4V2	285440	broad.mit.edu	37	4	187130376	187130376	+	Missense_Mutation	SNP	G	G	A	rs149681054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187130376G>A	ENST00000378802.4	+	10	1659	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2			20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			GCACAAGGGCGCCATCCATAT	0.542000																								0							SO:0001583	missense			ENST00000378802.4	1	1	hg19	CCDS34119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.899179|4.899179	0.91962|0.91962	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000164344|ENSG00000145476	ENST00000511608|ENST00000378802;ENST00000274118	.|T	.|0.70869	.|-0.52	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.053681	.|0.64402	.|D	.|0.000001	D|D	0.87293|0.87293	0.6141|0.6141	M|M	0.89030|0.89030	3|3	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.88965|0.88965	0.3396|0.3396	5|10	.|0.87932	.|D	.|0	.|.	19.34|19.34	0.94337|0.94337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|452	.|Q6ZWL3	.|CP4V2_HUMAN	T|H	51|452;430	.|ENSP00000368079:R452H	.|ENSP00000274118:R430H	A|R	+|+	1|2	0|0	KLKB1|CYP4V2	187367370|187367370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.630000|0.630000	0.37929|0.37929	8.847000|8.847000	0.92166|0.92166	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCC|CGC		TCGA-IB-7651-01A-11D-2154-08	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	1	0	0	49	489	0	100	1	9.999991e-01	28	174	0	100	2		0	0	0	0	0	2	1	1	49	480	0	100	2								-3.142702	1	1	121412	15	46	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.890000	0.700000	1.000000	0.960000	0.891673	0.890000	1	8.000000e-01	9.700000e-01
KLKB1	3818	broad.mit.edu	37	4	187178451	187178451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187178451C>T	ENST00000264690.6	+	14	1844	c.1657C>T	c.(1657-1659)Caa>Taa	p.Q553*	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1			40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			GAAAAGATATCAAGATTATAA	0.343000																								0							SO:0001587	stop_gained			ENST00000264690.6	0	1	hg19	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429760	0.43122	.	.	ENSG00000164344	ENST00000264690	.	.	.	5.97	-5.56	0.02529	.	0.771417	0.12142	N	0.495758	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.4025	0.21646	0.1991:0.5394:0.1817:0.0798	.	.	.	.	X	553	.	ENSP00000264690:Q553X	Q	+	1	0	KLKB1	187415445	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	0.460000	0.21924	-0.347000	0.08299	-1.112000	0.02068	CAA		TCGA-IB-7651-01A-11D-2154-08	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	1	0	1	76	334	0	106	0	0	0	1	0	106	2		0	0	0	0	0	2	1	1	75	328	0	106	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981617	0.980000	1	9.500000e-01	1
MTNR1A	4543	broad.mit.edu	37	4	187454932	187454932	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187454932C>T	ENST00000307161.5	-	2	1165	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A			14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TTAGAGCTGTCCACAAAGAAC	0.448000																								0							SO:0001583	missense			ENST00000307161.5	1	1	hg19	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536802	0.27475	.	.	ENSG00000168412	ENST00000307161	T	0.71817	-0.6	4.66	3.7	0.42460	.	0.265700	0.42172	D	0.000753	T	0.67832	0.2935	M	0.63428	1.95	0.40875	D	0.983943	B	0.15141	0.012	B	0.14023	0.01	T	0.65845	-0.6069	10	0.41790	T	0.15	-3.7703	14.9647	0.71182	0.0:0.8057:0.1943:0.0	.	322	P48039	MTR1A_HUMAN	N	322	ENSP00000302811:D322N	ENSP00000302811:D322N	D	-	1	0	MTNR1A	187691926	1.000000	0.71417	0.937000	0.37676	0.114000	0.19823	4.341000	0.59335	0.990000	0.38787	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1	0	0	1	139	525	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1	137	511	0	133	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.990000	0.950000	1.000000	0.990000	0.992075	0.990000	1	9.700000e-01	1
FAT1	2195	broad.mit.edu	37	4	187534419	187534419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187534419C>A	ENST00000441802.2	-	13	9516	c.9307G>T	c.(9307-9309)Gga>Tga	p.G3103*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					AATCTTCCTCCTCCATCTGTG	0.483000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001587	stop_gained			ENST00000441802.2	0	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	50	16.944003	0.99875	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.19	5.19	0.71726	.	0.051105	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	.	.	.	X	3103;3105	.	ENSP00000260147:G3105X	G	-	1	0	FAT1	187771413	1.000000	0.71417	0.984000	0.44739	0.031000	0.12232	7.638000	0.83328	2.712000	0.92718	0.609000	0.83330	GGA		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	0	67	267	0	82	1	1	61	318	0	82	2		0	0	0	0	0	2	1	1	66	261	0	80	2								-3.649135	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.980419	0.980000	1	9.500000e-01	1
FAT1	2195	broad.mit.edu	37	4	187535439	187535439	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187535439G>T	ENST00000441802.2	-	12	9344	c.9135C>A	c.(9133-9135)atC>atA	p.I3045I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					CTGTAGCAGAGATCTGCATGA	0.378000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001819	synonymous_variant			ENST00000441802.2	1	1	hg19	CCDS47177.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	85	319	0	101	1	1	60	233	0	101	2		0	0	0	0	0	2	1	1	84	314	0	100	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.930000	1.000000	0.990000	0.985666	0.980000	1	9.600000e-01	1
FAT1	2195	broad.mit.edu	37	4	187538356	187538356	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187538356C>A	ENST00000441802.2	-	11	9088		c.e11-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					GGATCCCCTCCTATTAAATCA	0.313000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001630	splice_region_variant			ENST00000441802.2	1	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533090	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4566	0.87609	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187775350	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	7.574000	0.82434	2.427000	0.82271	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	19	121	0	26	1	1.508247e-01	5	0	0	26	2		0	0	0	0	0	2	1	9.999942e-01	19	121	0	26	2								-3.234788	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.920000	0.690000	1.000000	0.990000	0.906411	0.920000	1	8.200000e-01	9.800000e-01
FAT1	2195	broad.mit.edu	37	4	187539140	187539140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539140C>T	ENST00000441802.2	-	10	8809	c.8600G>A	c.(8599-8601)gGc>gAc	p.G2867D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					TGTAATCCAGCCTGTTTCCAT	0.418000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001583	missense			ENST00000441802.2	1	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181797	0.78677	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.57273	0.41	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87138	0.2201	10	0.87932	D	0	.	18.5503	0.91062	0.0:1.0:0.0:0.0	.	2867	Q14517	FAT1_HUMAN	D	2867;2869	ENSP00000406229:G2867D	ENSP00000260147:G2869D	G	-	2	0	FAT1	187776134	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.651000	0.83577	2.682000	0.91365	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	53	220	0	58	1	1	65	260	0	58	2		0	0	0	0	0	2	1	1	52	216	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.970000	0.890000	1.000000	0.990000	0.974052	0.970000	1	9.400000e-01	1
FAT1	2195	broad.mit.edu	37	4	187539828	187539828	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539828C>A	ENST00000441802.2	-	10	8121	c.7912G>T	c.(7912-7914)Gac>Tac	p.D2638Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					CTTTCAGAGTCTGCTTCAATG	0.438000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001583	missense			ENST00000441802.2	0	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325419	0.60743	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53857	0.6	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.198717	0.52532	D	0.000070	T	0.66742	0.2820	L	0.60845	1.875	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	T	0.67086	-0.5759	10	0.59425	D	0.04	.	14.8514	0.70300	0.0:0.8568:0.1432:0.0	.	2638	Q14517	FAT1_HUMAN	Y	2638;2640	ENSP00000406229:D2638Y	ENSP00000260147:D2640Y	D	-	1	0	FAT1	187776822	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	5.848000	0.69458	2.861000	0.98227	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	0	0	0	7	173	0	46	1	9.980767e-01	10	299	0	46	2		0	0	0	0	0	2	1	9.774734e-01	6	165	0	45	2								-9.593105	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.420000	0.190000	0.750000	0.400000	0.446569	0.420000	0	2.900000e-01	5.900000e-01
FAT1	2195	broad.mit.edu	37	4	187540331	187540331	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540331C>A	ENST00000441802.2	-	10	7618	c.7409G>T	c.(7408-7410)gGa>gTa	p.G2470V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					TCTAAAAACTCCATCAGACAC	0.448000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001583	missense			ENST00000441802.2	1	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532735	0.64972	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04502	3.61	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58482	-0.7629	10	0.72032	D	0.01	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	2470	Q14517	FAT1_HUMAN	V	2470;2472	ENSP00000406229:G2470V	ENSP00000260147:G2472V	G	-	2	0	FAT1	187777325	1.000000	0.71417	0.984000	0.44739	0.491000	0.33493	7.609000	0.82925	2.810000	0.96702	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	70	903	0	231	1	9.999607e-01	101	83	0	231	2		0	0	0	0	0	2	1	1	70	887	0	227	2								-12.800080	1	0	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.760000	0.600000	0.930000	0.770000	0.773767	0.760000	0	6.800000e-01	8.600000e-01
FAT1	2195	broad.mit.edu	37	4	187540407	187540407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540407C>A	ENST00000441802.2	-	10	7542	c.7333G>T	c.(7333-7335)Ggg>Tgg	p.G2445W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					GTGATAATCCCTGTTGCACTG	0.438000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001583	missense			ENST00000441802.2	1	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.683930	0.47991	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04654	3.58	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70124	-0.4958	10	0.87932	D	0	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	2445	Q14517	FAT1_HUMAN	W	2445;2447	ENSP00000406229:G2445W	ENSP00000260147:G2447W	G	-	1	0	FAT1	187777401	1.000000	0.71417	0.640000	0.29408	0.113000	0.19764	7.609000	0.82925	2.890000	0.99128	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	61	604	0	174	1	1	125	122	0	174	2		0	0	0	0	0	2	1	1	60	591	0	173	2								-2.297604	0	0	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.910000	0.730000	1.000000	0.970000	0.904240	0.910000	1	8.200000e-01	9.800000e-01
FAT1	2195	broad.mit.edu	37	4	187540695	187540695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540695C>A	ENST00000441802.2	-	10	7254	c.7045G>T	c.(7045-7047)Gat>Tat	p.D2349Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					TGCTCGTAATCCAGGGTTCTG	0.498000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001583	missense			ENST00000441802.2	1	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803103	0.50315	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.04275	3.66	5.45	5.45	0.79879	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64909	-0.6296	10	0.87932	D	0	.	19.4782	0.94998	0.0:1.0:0.0:0.0	.	2349	Q14517	FAT1_HUMAN	Y	2349;2351	ENSP00000406229:D2349Y	ENSP00000260147:D2351Y	D	-	1	0	FAT1	187777689	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	47	593	0	156	1	9.999972e-01	122	113	0	156	2		0	0	0	0	0	2	1	1	46	579	0	154	2								-10.581060	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.770000	0.580000	0.960000	0.780000	0.783117	0.770000	0	6.700000e-01	8.900000e-01
FAT1	2195	broad.mit.edu	37	4	187628088	187628088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187628088C>T	ENST00000441802.2	-	2	3103	c.2894G>A	c.(2893-2895)aGc>aAc	p.S965N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					GTCCAGAAGGCTGTATCTCAC	0.473000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001583	missense			ENST00000441802.2	1	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165248	0.21538	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54866	0.55	4.67	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.041576	0.85682	D	0.000000	T	0.58524	0.2128	M	0.67397	2.05	0.58432	D	0.999997	P	0.41159	0.74	P	0.46339	0.513	T	0.61441	-0.7062	10	0.42905	T	0.14	.	14.7591	0.69593	0.0:0.8416:0.1583:0.0	.	965	Q14517	FAT1_HUMAN	N	965	ENSP00000406229:S965N	ENSP00000260147:S965N	S	-	2	0	FAT1	187865082	1.000000	0.71417	0.919000	0.36401	0.012000	0.07955	4.708000	0.61859	1.285000	0.44548	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	75	728	0	183	1	9.999825e-01	84	66	0	183	2		0	0	0	0	0	2	1	1	73	726	0	182	2								-19.807090	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.920000	0.760000	1.000000	0.990000	0.918995	0.920000	1	8.500000e-01	9.800000e-01
FAT1	2195	broad.mit.edu	37	4	187630410	187630410	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187630410C>T	ENST00000441802.2	-	2	781	c.572G>A	c.(571-573)cGa>cAa	p.R191Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1			228					CATATCTGTTCGATCTTTAAA	0.433000										HNSCC(5;0.00058)			Colon(197;1040 2055 4143 4984 49344)											0							SO:0001583	missense			ENST00000441802.2	1	1	hg19	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388905	0.82902	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60299	0.2;0.2	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.123299	0.56097	D	0.000030	T	0.54902	0.1887	N	0.19112	0.55	0.47476	D	0.999434	D	0.59767	0.986	P	0.54590	0.756	T	0.46247	-0.9205	10	0.14252	T	0.57	.	18.5053	0.90894	0.0:1.0:0.0:0.0	.	191	Q14517	FAT1_HUMAN	Q	191	ENSP00000406229:R191Q;ENSP00000423736:R191Q	ENSP00000260147:R191Q	R	-	2	0	FAT1	187867404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.909000	0.56363	2.704000	0.92352	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	1	0	1	62	460	0	121	1	9.998444e-01	45	51	0	121	2		0	0	0	0	0	2	1	1	62	452	0	121	2								-3.142702	1	1	121102	4	38	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.960000	0.830000	1.000000	0.990000	0.955128	0.960000	1	9.000000e-01	9.900000e-01
ZFP42	132625	broad.mit.edu	37	4	188924725	188924725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:188924725G>A	ENST00000326866.4	+	4	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein			27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)			TGCGGAAAGCGCTTCTCTCTG	0.498000																								0							SO:0001583	missense			ENST00000326866.4	1	1	hg19	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180323	0.57800	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.98792	-5.14;-5.14	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063070	0.64402	D	0.000006	D	0.97936	0.9321	L	0.55834	1.745	0.37700	D	0.924187	D	0.89917	1.0	P	0.54759	0.76	D	0.98586	1.0652	10	0.56958	D	0.05	.	10.8275	0.46643	0.0938:0.0:0.9062:0.0	.	255	Q96MM3	ZFP42_HUMAN	H	255	ENSP00000317686:R255H;ENSP00000424662:R255H	ENSP00000317686:R255H	R	+	2	0	ZFP42	189161719	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	7.563000	0.82314	1.443000	0.47586	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	1	0	1	62	189	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	59	185	0	46	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.910000	1.000000	0.990000	0.981781	0.980000	1	9.500000e-01	1
TRIML2	205860	broad.mit.edu	37	4	189012679	189012679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189012679C>T	ENST00000512729.1	-	7	1386	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2			39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)			AGGGACATCTCGGTCACATTG	0.493000																								0							SO:0001583	missense			ENST00000512729.1	1	1	hg19	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519012	0.13005	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.61040	0.14;0.14	5.85	-0.853	0.10709	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.063480	0.07343	N	0.881033	T	0.30759	0.0775	N	0.10972	0.075	0.09310	N	1	B;P	0.34724	0.268;0.465	B;B	0.21151	0.033;0.033	T	0.10917	-1.0609	10	0.39692	T	0.17	.	7.1236	0.25458	0.0:0.5251:0.232:0.2429	.	363;338	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	K	338;363	ENSP00000422581:E338K;ENSP00000317498:E363K	ENSP00000317498:E363K	E	-	1	0	TRIML2	189249673	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.750000	0.04808	-0.136000	0.11475	-0.176000	0.13171	GAG		TCGA-IB-7651-01A-11D-2154-08	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	1	0	1	120	453	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	118	450	0	107	2								-20.000000	1	1	0	0		1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.980000	0.950000	1.000000	0.990000	0.990480	0.980000	1	9.700000e-01	1
TRIML1	339976	broad.mit.edu	37	4	189067986	189067986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189067986G>A	ENST00000332517.3	+	6	1007	c.867G>A	c.(865-867)acG>acA	p.T289T	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1			60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)			CGGAGATAACGCTGGACCCAG	0.473000													Melanoma(31;213 1036 16579 23968 32372)											0							SO:0001819	synonymous_variant			ENST00000332517.3	1	1	hg19	CCDS3851.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	1	0	1	98	872	0	225		0	0	0	0	225	2		0	0	0	0	0	2	1	1	98	850	0	222	2								-20.000000	1	1	112232	1	38	1	0	1	1	1.777321	1	0.170000	2.060000	9.289617e-02	0.950000	0.830000	1.000000	0.990000	0.949409	0.950000	1	9.000000e-01	9.900000e-01
WHSC1	7468	broad.mit.edu	37	4	1918684	1918684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1918684G>A	ENST00000382895.3	+	6	1278	c.847G>A	c.(847-849)Gct>Act	p.A283T	WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000503128.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1			48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)		GAGCCTCGTAGCTTTTGAAGG	0.433000			T	IGH@	MM										Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0							SO:0001583	missense			ENST00000382895.3	1	1	hg19	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586572	0.28268	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.25	3.39	0.38822	PWWP (3);	0.335476	0.25768	N	0.028439	T	0.39517	0.1081	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.10450	0.005;0.003;0.005;0.004	T	0.17930	-1.0353	10	0.25751	T	0.34	.	3.9283	0.09273	0.0897:0.2814:0.4923:0.1366	.	283;283;283;283	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	T	283	ENSP00000423972:A283T;ENSP00000421681:A283T;ENSP00000372347:A283T;ENSP00000372348:A283T;ENSP00000399251:A283T;ENSP00000372351:A283T;ENSP00000425761:A283T;ENSP00000422878:A283T;ENSP00000381311:A283T	ENSP00000308780:A283T	A	+	1	0	WHSC1	1888482	0.952000	0.32445	0.996000	0.52242	0.998000	0.95712	1.515000	0.35845	1.445000	0.47624	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	1	0	1	64	231	0	56	1	9.999993e-01	32	47	0	56	2		0	0	0	0	0	2	1	1	64	226	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT2	9353	broad.mit.edu	37	4	20544182	20544182	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20544182G>T	ENST00000504154.1	+	21	2461	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F	SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)			116					CTTGGATACAGTCGTCCGATG	0.413000																								0							SO:0001583	missense			ENST00000504154.1	1	1	hg19	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783288	0.70222	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	0.962;1.0	B;D	0.87578	0.431;0.998	T	0.47736	-0.9094	10	0.72032	D	0.01	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	729;737	O94813-3;O94813	.;SLIT2_HUMAN	F	729;737;741;733;733	ENSP00000427548:V729F;ENSP00000422591:V737F;ENSP00000273739:V741F;ENSP00000422261:V733F	ENSP00000273739:V741F	V	+	1	0	SLIT2	20153280	1.000000	0.71417	0.213000	0.23690	0.243000	0.25628	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1	259	1099	0	233	1	9.988596e-01	3	41	0	233	2		0	0	0	0	0	2	1	1	255	1071	0	229	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT2	9353	broad.mit.edu	37	4	20550138	20550138	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20550138G>A	ENST00000504154.1	+	23	2625	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	SLIT2_ENST00000273739.5_Silent_p.T795T|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Silent_p.T787T|SLIT2_ENST00000503823.1_Silent_p.T783T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)			116					GAATAAGCACGCTTTCTAATC	0.368000																								0							SO:0001819	synonymous_variant			ENST00000504154.1	1	1	hg19	CCDS3426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1	43	187	0	46	0	9.946215e-01	0	38	0	46	2		0	0	0	0	0	2	1	1	43	184	0	44	2								-3.494900	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT2	9353	broad.mit.edu	37	4	20568888	20568888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20568888C>A	ENST00000504154.1	+	27	2981	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)			116					TTTTCAGGTCCTGTGGATGTC	0.333000																								0							SO:0001583	missense			ENST00000504154.1	1	1	hg19	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418949	0.83559	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	D;D;T;D;D	0.88975	-1.54;-1.56;-1.47;-1.53;-2.45	5.67	5.67	0.87782	.	0.101407	0.64402	D	0.000002	D	0.93562	0.7945	M	0.78637	2.42	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.63381	0.914;0.823	D	0.90823	0.4710	10	0.17369	T	0.5	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	902;910	O94813-3;O94813	.;SLIT2_HUMAN	H	902;910;914;906;906;122	ENSP00000427548:P902H;ENSP00000422591:P910H;ENSP00000273739:P914H;ENSP00000422261:P906H;ENSP00000421975:P122H	ENSP00000273739:P914H	P	+	2	0	SLIT2	20177986	1.000000	0.71417	0.985000	0.45067	0.745000	0.42441	6.071000	0.71229	2.659000	0.90383	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1	151	661	0	157	1	9.912749e-01	2	32	0	157	2		0	0	0	0	0	2	1	1	149	653	0	154	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT2	9353	broad.mit.edu	37	4	20597397	20597397	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20597397A>G	ENST00000504154.1	+	31	3512	c.3260A>G	c.(3259-3261)aAc>aGc	p.N1087S	SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	p.N1087T(1)		116					AAGTGTAAAAACGGAGCCCAC	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000504154.1	0	1	hg19	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532906	0.64972	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.039534	0.85682	D	0.000000	D	0.96315	0.8798	M	0.85197	2.74	0.80722	D	1	P;P	0.40534	0.582;0.72	B;P	0.47941	0.17;0.562	D	0.96586	0.9434	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1079;1087	O94813-3;O94813	.;SLIT2_HUMAN	S	1079;1087;1100;1083;1083	ENSP00000427548:N1079S;ENSP00000422591:N1087S;ENSP00000273739:N1100S;ENSP00000422261:N1083S	ENSP00000273739:N1100S	N	+	2	0	SLIT2	20206495	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	7.048000	0.76606	2.371000	0.80710	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	0	0	0	10	663	0	169	0	1.306789e-01	0	38	0	169	2		0	0	0	0	0	2	1	9.967160e-01	10	655	0	165	2								-3.225726	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.180000	0.090000	1.000000	0.170000	0.236588	0.180000	0	1.300000e-01	2.600000e-01
SLIT2	9353	broad.mit.edu	37	4	20599956	20599956	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20599956C>A	ENST00000504154.1	+	33	3882	c.3630C>A	c.(3628-3630)ctC>ctA	p.L1210L	SLIT2_ENST00000273739.5_Silent_p.L1223L|SLIT2_ENST00000503837.1_Silent_p.L1206L|SLIT2_ENST00000503823.1_Silent_p.L1202L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)			116					CGGTAGAACTCTATCGGGGGC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000504154.1	1	1	hg19	CCDS3426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	1	0	1	126	498	0	124	1	9.998363e-01	5	47	0	124	2		0	0	0	0	0	2	1	1	125	492	0	122	2								-3.502680	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAT8L	339983	broad.mit.edu	37	4	2062757	2062757	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2062757C>T	ENST00000423729.2	+	2	409	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	NAT8L_ENST00000331662.3_5'UTR	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)			2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)		CTCGCTGCTGCTGACGTGCCT	0.746000																								0							SO:0001819	synonymous_variant			ENST00000423729.2	0	1	hg19	CCDS3359.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	13	45	0	13	0	0	0	1	0	13	2		0	0	0	0	0	2	1	9.997431e-01	13	45	0	13	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999766	0.990000	1	9.900000e-01	1
NAT8L	339983	broad.mit.edu	37	4	2065708	2065708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2065708G>A	ENST00000423729.2	+	3	763	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	NAT8L_ENST00000331662.3_Missense_Mutation_p.A87T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)			2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)		CAAGGTGGCCGCCCACAAGCT	0.662000																								0							SO:0001583	missense			ENST00000423729.2	1	1	hg19	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	G	36	5.880837	0.97062	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.37235	1.21;1.21	5.31	5.31	0.75309	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.68796	0.3040	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76323	-0.3001	10	0.87932	D	0	-0.0397	18.5588	0.91093	0.0:0.0:1.0:0.0	.	255	Q8N9F0	NAT8L_HUMAN	T	255;87	ENSP00000413064:A255T;ENSP00000328464:A87T	ENSP00000328464:A87T	A	+	1	0	NAT8L	2035506	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	9.634000	0.98435	2.484000	0.83849	0.457000	0.33378	GCC		TCGA-IB-7651-01A-11D-2154-08	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	29	140	0	34	0	8.316176e-02	0	3	0	34	2		0	0	0	0	0	2	1	1	29	137	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
PACRGL	133015	broad.mit.edu	37	4	20706376	20706376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20706376A>C	ENST00000503585.1	+	3	537	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000360916.5_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A|PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like			10					AGTTCTCCAGAGTCTGCAAGA	0.383000																								0							SO:0001583	missense			ENST00000503585.1	1	1	hg19	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670657	0.67814	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.56	3.07	0.35406	.	0.389405	0.26923	N	0.021802	T	0.29223	0.0727	L	0.54323	1.7	0.29518	N	0.853726	D;P;P;B;B;P	0.54601	0.967;0.605;0.799;0.264;0.104;0.675	P;B;B;B;B;B	0.45971	0.499;0.204;0.272;0.124;0.058;0.298	T	0.12889	-1.0530	9	0.10111	T	0.7	-6.607	4.8074	0.13326	0.7167:0.0:0.1419:0.1414	.	49;49;97;49;49;49	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	A	97;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49;49	.	ENSP00000295290:E49A	E	+	2	0	PACRGL	20315474	0.985000	0.35326	0.766000	0.31476	0.978000	0.69477	2.811000	0.47986	1.006000	0.39211	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	1	0	1	87	423	0	99	1	9.996168e-01	34	24	0	99	2		0	0	0	0	0	2	1	1	83	412	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNIP4	80333	broad.mit.edu	37	4	20751322	20751322	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20751322G>A	ENST00000382152.2	-	5	559	c.392C>T	c.(391-393)gCa>gTa	p.A131V	KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V|KCNIP4_ENST00000382148.3_Missense_Mutation_p.A106V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000382149.4_5'UTR	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4			13		Breast(46;0.134)			TGTATCAAATGCATTGAACAG	0.353000																								0							SO:0001583	missense			ENST00000382152.2	1	1	hg19	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409805	0.83340	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	N	0.21097	0.63	0.80722	D	1	D;D;D;D	0.65815	0.973;0.987;0.987;0.995	P;P;P;P	0.60886	0.741;0.88;0.88;0.842	T	0.01345	-1.1379	10	0.06236	T	0.91	.	18.3716	0.90408	0.0:0.0:1.0:0.0	.	106;110;114;131	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	V	106;97;110;69;131;69;69	ENSP00000371583:A106V;ENSP00000399080:A97V;ENSP00000371585:A110V;ENSP00000371587:A131V;ENSP00000423257:A69V;ENSP00000351892:A69V	ENSP00000351892:A69V	A	-	2	0	KCNIP4	20360420	1.000000	0.71417	0.980000	0.43619	0.884000	0.51177	9.379000	0.97198	2.623000	0.88846	0.585000	0.79938	GCA		TCGA-IB-7651-01A-11D-2154-08	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	1	0	1	36	156	0	42	0	3.716627e-02	1	1	0	42	2		0	0	0	0	0	2	1	1	36	156	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNIP4	80333	broad.mit.edu	37	4	20852254	20852254	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20852254C>A	ENST00000382152.2	-	3	367	c.200G>T	c.(199-201)aGg>aTg	p.R67M	KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R5M|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R42M|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000382149.4_5'UTR	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4			13		Breast(46;0.134)			AGGCCGATGCCTGACGGTGGC	0.483000																								0							SO:0001583	missense			ENST00000382152.2	0	1	hg19	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181768	0.94885	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.73152	-0.72;1.96;-0.72;1.96;-0.69;-0.69	5.42	5.42	0.78866	.	0.205201	0.51477	D	0.000081	T	0.81034	0.4739	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.62365	0.981;0.991;0.991;0.991	P;P;P;P	0.50590	0.591;0.645;0.551;0.645	D	0.84538	0.0637	10	0.72032	D	0.01	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	42;46;50;67	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	M	42;33;46;5;67;5;5	ENSP00000371583:R42M;ENSP00000399080:R33M;ENSP00000371585:R46M;ENSP00000371587:R67M;ENSP00000423257:R5M;ENSP00000351892:R5M	ENSP00000351892:R5M	R	-	2	0	KCNIP4	20461352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.521000	0.84997	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	0	0	0	12	279	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.991138e-01	12	276	0	56	2								-13.555870	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.510000	0.270000	1.000000	0.480000	0.543430	0.510000	0	3.700000e-01	6.900000e-01
POLN	353497	broad.mit.edu	37	4	2130966	2130966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2130966G>A	ENST00000511885.2	-	18	2160	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	POLN_ENST00000382865.1_Missense_Mutation_p.L603F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu			28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)		GAGATCGTGAGAATCTTGTCT	0.388000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000511885.2	1	1	hg19	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475118	0.26511	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	D;D	0.96885	-4.16;-4.16	4.54	-0.924	0.10462	DNA-directed DNA polymerase, family A, palm domain (1);	1.011150	0.07936	N	0.978426	D	0.95446	0.8521	L	0.42686	1.345	0.09310	N	1	D;D;D	0.64830	0.975;0.973;0.994	P;P;D	0.63703	0.702;0.789;0.917	D	0.87240	0.2266	10	0.87932	D	0	-0.0173	1.3165	0.02108	0.2091:0.3282:0.3064:0.1563	.	134;294;603	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	F	603;603;294;134	ENSP00000435506:L603F;ENSP00000372316:L603F	ENSP00000253313:L294F	L	-	1	0	POLN	2100764	0.023000	0.18921	0.001000	0.08648	0.019000	0.09904	0.004000	0.13106	0.098000	0.17522	0.555000	0.69702	CTC		TCGA-IB-7651-01A-11D-2154-08	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	1	0	1	38	210	0	50	0	2.486056e-02	0	2	0	50	2		0	0	0	0	0	2	1	9.994256e-01	36	206	1	50	16								-3.236728	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
GPR125	166647	broad.mit.edu	37	4	22390256	22390256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390256C>A	ENST00000334304.5	-	19	3307	c.3038G>T	c.(3037-3039)gGg>gTg	p.G1013V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125			56		Breast(46;0.198)			AGCCAAAGCCCCAAACATCCA	0.443000																								0							SO:0001583	missense			ENST00000334304.5	1	1	hg19	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404043	0.62288	.	.	ENSG00000152990	ENST00000334304	T	0.65732	-0.17	5.94	5.94	0.96194	GPCR, family 2-like (1);	0.098598	0.64402	D	0.000001	T	0.77916	0.4202	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.75484	0.986;0.852	T	0.76049	-0.3101	10	0.51188	T	0.08	-29.7383	20.3501	0.98811	0.0:1.0:0.0:0.0	.	870;1013	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	1013	ENSP00000334952:G1013V	ENSP00000334952:G1013V	G	-	2	0	GPR125	21999354	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	4.597000	0.61062	2.807000	0.96579	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1	55	264	0	67	1	9.999997e-01	22	88	0	67	2		0	0	0	0	0	2	1	1	55	258	0	67	2								-3.020238	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR125	166647	broad.mit.edu	37	4	22390383	22390383	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390383T>G	ENST00000334304.5	-	19	3180	c.2911A>C	c.(2911-2913)Aat>Cat	p.N971H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125			56		Breast(46;0.198)			TCCTGATGATTTATTTCGCCA	0.433000																								0							SO:0001583	missense			ENST00000334304.5	1	1	hg19	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607184	0.14002	.	.	ENSG00000152990	ENST00000334304	T	0.53206	0.63	5.84	0.449	0.16619	GPCR, family 2-like (1);	0.655837	0.16888	N	0.195424	T	0.27731	0.0682	N	0.19112	0.55	0.09310	N	1	B;B	0.20671	0.003;0.047	B;B	0.19391	0.005;0.025	T	0.13818	-1.0495	10	0.41790	T	0.15	-1.4819	5.9665	0.19328	0.0:0.1913:0.2328:0.5759	.	828;971	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	971	ENSP00000334952:N971H	ENSP00000334952:N971H	N	-	1	0	GPR125	21999481	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.505000	0.22642	-0.118000	0.11851	0.528000	0.53228	AAT		TCGA-IB-7651-01A-11D-2154-08	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1	100	427	0	58	1	9.999876e-01	21	50	0	58	2		0	0	0	0	0	2	1	1	99	417	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR125	166647	broad.mit.edu	37	4	22390718	22390718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390718C>T	ENST00000334304.5	-	18	2985	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	p.A906T(1)		56		Breast(46;0.198)			CACTAGGGTGCGTTTGGCCGA	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000334304.5	1	1	hg19	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850785	0.71719	.	.	ENSG00000152990	ENST00000334304	T	0.53857	0.6	5.85	5.85	0.93711	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.39245	1.2	0.80722	D	1	B;D	0.56746	0.213;0.977	B;P	0.46110	0.064;0.504	T	0.36504	-0.9745	10	0.26408	T	0.33	-13.3325	15.7232	0.77732	0.1373:0.8627:0.0:0.0	.	763;906	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	T	906	ENSP00000334952:A906T	ENSP00000334952:A906T	A	-	1	0	GPR125	21999816	0.997000	0.39634	0.889000	0.34880	0.972000	0.66771	3.633000	0.54295	2.755000	0.94549	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	0	106	1093	0	240	1	9.908943e-01	7	68	0	240	2		0	0	0	0	0	2	1	1	107	1064	0	238	2								-19.999980	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.982822	0.990000	1	9.500000e-01	1
GPR125	166647	broad.mit.edu	37	4	22414813	22414813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414813C>T	ENST00000334304.5	-	14	2493	c.2224G>A	c.(2224-2226)Gtt>Att	p.V742I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125			56		Breast(46;0.198)			ACCATTAAAACTGCATAGTTA	0.353000																								0							SO:0001583	missense			ENST00000334304.5	1	1	hg19	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258243	0.39896	.	.	ENSG00000152990	ENST00000334304	T	0.69435	-0.4	5.49	5.49	0.81192	GPS domain (3);	0.130085	0.52532	D	0.000075	T	0.70124	0.3188	L	0.41492	1.28	0.80722	D	1	P;D	0.57899	0.686;0.981	B;P	0.54499	0.28;0.754	T	0.64782	-0.6326	10	0.22109	T	0.4	-30.6269	19.3671	0.94468	0.0:1.0:0.0:0.0	.	599;742	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	I	742	ENSP00000334952:V742I	ENSP00000334952:V742I	V	-	1	0	GPR125	22023911	0.971000	0.33674	0.850000	0.33497	0.712000	0.41017	2.219000	0.42899	2.555000	0.86185	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	0	0	0	21	863	0	176	0	4.109734e-01	0	57	0	176	2		0	0	0	0	0	2	1	9.999968e-01	21	845	0	173	2								-3.297382	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.280000	0.170000	1.000000	0.280000	0.331754	0.280000	0	2.200000e-01	3.700000e-01
GPR125	166647	broad.mit.edu	37	4	22414965	22414965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414965C>T	ENST00000334304.5	-	14	2341	c.2072G>A	c.(2071-2073)cGt>cAt	p.R691H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125			56		Breast(46;0.198)			TGCAATTCGACGCAGTGTCAC	0.438000																								0							SO:0001583	missense			ENST00000334304.5	1	1	hg19	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434147	0.96150	6.81E-4	3.49E-4	ENSG00000152990	ENST00000334304	T	0.58060	0.36	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75733	-0.3214	10	0.72032	D	0.01	-35.5869	20.1991	0.98252	0.0:1.0:0.0:0.0	.	548;691	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	691	ENSP00000334952:R691H	ENSP00000334952:R691H	R	-	2	0	GPR125	22024063	1.000000	0.71417	0.983000	0.44433	0.679000	0.39708	5.592000	0.67543	2.775000	0.95449	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	1	0	1	90	454	0	101	1	9.968627e-01	13	33	0	101	2		0	0	0	0	0	2	1	1	89	449	0	100	2								-20.000000	1	1	121408	14	44	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAUS3	79441	broad.mit.edu	37	4	2242216	2242216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2242216C>T	ENST00000243706.4	-	2	687	c.458G>A	c.(457-459)gGa>gAa	p.G153E	HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3			22					ATTTAGAATTCCTTGACTCTG	0.353000																								0							SO:0001583	missense			ENST00000243706.4	1	1	hg19	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020179	0.19433	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.39997	1.05;1.05	5.29	2.27	0.28462	.	0.300119	0.28683	U	0.014487	T	0.23410	0.0566	L	0.32530	0.975	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.19946	0.027;0.01	T	0.29088	-1.0023	10	0.02654	T	1	-47.7984	6.0954	0.20017	0.0:0.5297:0.29:0.1803	.	153;153	B4DF64;Q68CZ6	.;HAUS3_HUMAN	E	153	ENSP00000243706:G153E;ENSP00000392903:G153E	ENSP00000243706:G153E	G	-	2	0	HAUS3	2212014	0.000000	0.05858	0.528000	0.27938	0.982000	0.71751	0.596000	0.24044	0.640000	0.30582	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	1	0	1	43	283	0	81	1	9.914294e-01	10	41	0	81	2		0	0	0	0	0	2	1	1	43	278	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999909	0.990000	1	9.900000e-01	1
GPR125	166647	broad.mit.edu	37	4	22422568	22422568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22422568C>A	ENST00000334304.5	-	12	2019	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125			56		Breast(46;0.198)			AGCTGCTTATCCAGGTTTCCC	0.448000																								0							SO:0001583	missense			ENST00000334304.5	1	1	hg19	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070604	0.76301	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.65364	0.42;-0.15	5.1	5.1	0.69264	.	0.106348	0.64402	D	0.000006	T	0.77519	0.4142	M	0.61703	1.905	0.80722	D	1	B;D;D;P	0.76494	0.063;0.999;0.997;0.769	B;D;D;B	0.71414	0.05;0.973;0.923;0.384	T	0.79820	-0.1642	10	0.87932	D	0	-33.5045	18.8818	0.92358	0.0:1.0:0.0:0.0	.	459;584;358;584	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	Y	584;358;584	ENSP00000334952:D584Y;ENSP00000421006:D584Y	ENSP00000334952:D584Y	D	-	1	0	GPR125	22031666	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	6.591000	0.74090	2.515000	0.84797	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3	0	0	0	38	1184	0	253	1	6.916064e-01	7	69	0	253	2		0	0	0	0	0	2	1	1	38	1163	0	252	2								-3.049541	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.370000	0.260000	1.000000	0.370000	0.410439	0.370000	0	3.100000e-01	4.500000e-01
MXD4	10608	broad.mit.edu	37	4	2252274	2252274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2252274C>T	ENST00000337190.2	-	6	940	c.627G>A	c.(625-627)tcG>tcA	p.S209S	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4			6					CACGGGCCTACGAGAGGGCGG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000337190.2	0	1	hg19	CCDS3361.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	0	0	0	8	63	0	13	1	9.070243e-01	18	18	0	13	2		0	0	0	0	0	2	1	9.902230e-01	8	62	0	13	2								-17.943470	1	1	118336	5	29	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.650000	1.000000	1.000000	0.965835	0.990000	1	9.400000e-01	1
MXD4	10608	broad.mit.edu	37	4	2263663	2263663	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2263663G>A	ENST00000337190.2	-	1	358	c.45C>T	c.(43-45)taC>taT	p.Y15Y	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4			6					TGCGCTCCAGGTACTCGGCCG	0.801000																								0							SO:0001819	synonymous_variant			ENST00000337190.2	1	1	hg19	CCDS3361.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	1	0	0	11	42	0	12	1	9.999998e-01	44	119	0	12	2		0	0	0	0	0	2	1	9.989352e-01	11	42	0	12	2								-19.994960	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999177	0.990000	1	9.900000e-01	1
GBA3	57733	broad.mit.edu	37	4	22737808	22737808	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22737808C>T	ENST00000503442.1	+	0	354				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)	p.T88K(1)		33					CCTGATGGGACGACAGGTTTC	0.413000																								1	Substitution - Missense(1)										ENST00000503442.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2	0	0	0	126	538	0	120	0	3.659432e-02	0	2	0	120	2		0	0	0	0	0	2	1	1	126	528	0	120	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBA3	57733	broad.mit.edu	37	4	22749357	22749357	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22749357C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)			33					GACCAGGAAGCTGCTAAAAGA	0.428000																								0											ENST00000503442.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2	0	0	0	118	524	0	117	0	0	0	1	0	117	2		0	0	0	0	0	2	1	1	119	516	0	116	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBA3	57733	broad.mit.edu	37	4	22820391	22820391	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22820391C>T	ENST00000503442.1	+	0	425				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)			33					TGCATGGTCTCTTCTGGATAA	0.413000																								0											ENST00000503442.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2	0	0	0	6	142	0	28	0	0	0	1	0	28	2		0	0	0	0	0	2	1	9.637144e-01	6	139	0	28	2								-9.014527	1	1	120786	2	33	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.520000	0.210000	1.000000	1.000000	0.558554	0.520000	0	3.400000e-01	7.800000e-01
PPARGC1A	10891	broad.mit.edu	37	4	23815376	23815376	+	Missense_Mutation	SNP	G	G	A	rs17847360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815376G>A	ENST00000264867.2	-	8	1849	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha			51		Breast(46;0.0503)			TCGGGAACACGACCTGTGTCG	0.458000													Esophageal Squamous(29;694 744 13796 34866 44181)											0							SO:0001583	missense			ENST00000264867.2	1	1	hg19	CCDS3429.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.23	3.786916	0.70337	0.0	2.33E-4	ENSG00000109819	ENST00000264867	T	0.48201	0.82	6.16	6.16	0.99307	.	0.110926	0.64402	D	0.000005	T	0.72078	0.3416	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.69045	-0.5249	10	0.42905	T	0.14	-3.6221	20.8598	0.99761	0.0:0.0:1.0:0.0	rs17847360	577	Q9UBK2	PRGC1_HUMAN	L	577	ENSP00000264867:S577L	ENSP00000264867:S577L	S	-	2	0	PPARGC1A	23424474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.986000	0.93492	2.937000	0.99478	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	1	0	1	74	255	0	69	1	9.328102e-01	6	12	0	69	2		0	0	0	0	0	2	1	1	74	250	0	68	2								-2.935939	1	1	121408	57	48	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPARGC1A	10891	broad.mit.edu	37	4	23815518	23815518	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815518A>T	ENST00000264867.2	-	8	1707	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha			51		Breast(46;0.0503)			AATGAATAGGATTGCGTGCCA	0.413000													Esophageal Squamous(29;694 744 13796 34866 44181)											0							SO:0001583	missense			ENST00000264867.2	1	1	hg19	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.618834	0.28801	.	.	ENSG00000109819	ENST00000264867	T	0.22539	1.95	6.16	3.67	0.42095	.	0.316917	0.38272	N	0.001760	T	0.15262	0.0368	L	0.55481	1.735	0.80722	D	1	P	0.39782	0.688	B	0.33750	0.169	T	0.08806	-1.0704	10	0.15066	T	0.55	-0.2608	7.3919	0.26915	0.712:0.1518:0.1362:0.0	.	530	Q9UBK2	PRGC1_HUMAN	T	530	ENSP00000264867:S530T	ENSP00000264867:S530T	S	-	1	0	PPARGC1A	23424616	0.469000	0.25846	0.716000	0.30569	0.992000	0.81027	0.998000	0.29744	0.532000	0.28657	0.528000	0.53228	TCC		TCGA-IB-7651-01A-11D-2154-08	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	1	0	1	109	513	0	89	1	8.475781e-01	2	16	0	89	2		0	0	0	0	0	2	1	1	109	502	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPARGC1A	10891	broad.mit.edu	37	4	23833186	23833186	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23833186C>T	ENST00000264867.2	-	3	542	c.423G>A	c.(421-423)ccG>ccA	p.P141P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha			51		Breast(46;0.0503)			TTACTAGAGACGGCTCTTCTG	0.517000													Esophageal Squamous(29;694 744 13796 34866 44181)											0							SO:0001819	synonymous_variant			ENST00000264867.2	1	1	hg19	CCDS3429.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	1	0	0	124	517	0	130	1	8.869579e-01	8	10	0	130	2		0	0	0	0	0	2	1	1	122	509	0	129	2								-20.000000	1	1	121412	3	37	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX15	1665	broad.mit.edu	37	4	24538792	24538792	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24538792T>C	ENST00000336812.4	-	11	1947	c.1791A>G	c.(1789-1791)ccA>ccG	p.P597P	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15			30		Breast(46;0.0503)			CAAAACACTGTGGGACTAAAC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000336812.4	1	1	hg19	CCDS33966.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	1	0	1	28	104	0	28	1	1	67	189	0	28	2		0	0	0	0	0	2	1	1	28	104	0	28	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DHX15	1665	broad.mit.edu	37	4	24543646	24543646	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24543646C>T	ENST00000336812.4	-	8	1492		c.e8-1		DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15			30		Breast(46;0.0503)			GATTGTAGACCTATTGGAATT	0.408000																								0							SO:0001630	splice_region_variant			ENST00000336812.4	1	1	hg19	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275687	0.59649	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX15	24152744	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	1	0	1	40	199	0	67	0	0	1	0	0	67	2		0	0	0	0	0	2	1	1	40	198	0	66	2								-3.069077	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DHX15	1665	broad.mit.edu	37	4	24578221	24578221	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24578221C>T	ENST00000336812.4	-	2	308	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15			30		Breast(46;0.0503)			ctccctctcTCGCTCTCTATC	0.448000																								0							SO:0001583	missense			ENST00000336812.4	1	1	hg19	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507978	0.85282	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.62232	0.04	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.30357	-0.9981	10	0.37606	T	0.19	-21.7171	14.6448	0.68754	0.0:0.9286:0.0:0.0714	.	51	O43143	DHX15_HUMAN	Q	51;40	ENSP00000336741:R51Q	ENSP00000336741:R51Q	R	-	2	0	DHX15	24187319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.632000	0.67819	2.652000	0.90054	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	1	0	1	66	231	0	49	1	1	87	195	0	49	2		0	0	0	0	0	2	1	1	61	225	0	49	2								-4.021166	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC149	91050	broad.mit.edu	37	4	24838984	24838984	+	Silent	SNP	G	G	A	rs58692972	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24838984G>A	ENST00000389609.4	-	7	671	c.528C>T	c.(526-528)gaC>gaT	p.D176D	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000504487.1_Silent_p.D176D	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149			7		Breast(46;0.173)			CCTGAAGCTCGTCCACAGAAG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000389609.4	1	0	hg19	CCDS33967.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	0	0	1	53	269	0	79	0	9.197983e-01	1	23	0	79	2		0	0	0	0	0	2	1	1	52	263	0	76	2								-2.799555	1	1	121412	917	62	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF4	6047	broad.mit.edu	37	4	2502385	2502385	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2502385G>A	ENST00000511600.1	+	4	1639		c.e4-1		RNF4_ENST00000314289.8_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000509258.1_Splice_Site|RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site			P78317	RNF4_HUMAN	ring finger protein 4			5		all_epithelial(65;0.241)			TTCTTTTGAAGCTGGAGATGA	0.398000																								0							SO:0001630	splice_region_variant			ENST00000511600.1	1	1	hg19	CCDS47001.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855263	0.71719	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1961	0.82025	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF4	2472183	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.512000	0.67030	2.676000	0.91093	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1	1	0	0	10	161	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.971490e-01	10	161	0	32	2								-4.957703	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.720000	0.370000	1.000000	1.000000	0.733221	0.720000	0	5.200000e-01	1
ZCCHC4	29063	broad.mit.edu	37	4	25363599	25363599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25363599A>G	ENST00000302874.4	+	9	1154	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4			9		Breast(46;0.0503)			GAAGAAGGGTACAGGTAAGAT	0.383000																								0							SO:0001583	missense			ENST00000302874.4	1	1	hg19	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210568	0.79240	.	.	ENSG00000168228	ENST00000302874	T	0.36520	1.25	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.67612	-0.5626	10	0.87932	D	0	-9.4566	15.0981	0.72250	1.0:0.0:0.0:0.0	.	377	Q9H5U6	ZCHC4_HUMAN	C	377	ENSP00000303468:Y377C	ENSP00000303468:Y377C	Y	+	2	0	ZCCHC4	24972697	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.582000	0.82546	2.266000	0.75297	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1	1	0	0	7	132	0	38	1	2.725855e-01	2	16	0	38	2		0	0	0	0	0	2	1	9.804829e-01	7	130	0	38	2								-10.438740	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.630000	0.280000	1.000000	1.000000	0.659597	0.630000	0	4.300000e-01	9.300000e-01
ZCCHC4	29063	broad.mit.edu	37	4	25370758	25370758	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25370758A>G	ENST00000302874.4	+	13	1538	c.1514A>G	c.(1513-1515)gAa>gGa	p.E505G		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4			9		Breast(46;0.0503)			AAAAGGAGGGAAAGAGCCCAT	0.388000																								0							SO:0001583	missense			ENST00000302874.4	1	1	hg19	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593813	0.46214	.	.	ENSG00000168228	ENST00000302874	T	0.32272	1.46	5.81	3.39	0.38822	.	1.110990	0.06650	N	0.762600	T	0.23330	0.0564	N	0.22421	0.69	0.23144	N	0.998221	B	0.06786	0.001	B	0.04013	0.001	T	0.21827	-1.0234	10	0.59425	D	0.04	3.3457	8.192	0.31374	0.8395:0.0:0.1605:0.0	.	505	Q9H5U6	ZCHC4_HUMAN	G	505	ENSP00000303468:E505G	ENSP00000303468:E505G	E	+	2	0	ZCCHC4	24979856	0.998000	0.40836	0.963000	0.40424	0.930000	0.56654	2.267000	0.43329	1.043000	0.40175	0.482000	0.46254	GAA		TCGA-IB-7651-01A-11D-2154-08	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1	1	0	1	86	302	0	67	1	9.949755e-01	8	23	0	67	2		0	0	0	0	0	2	1	1	86	291	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANAPC4	29945	broad.mit.edu	37	4	25390499	25390499	+	Silent	SNP	C	C	T	rs140263991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25390499C>T	ENST00000315368.3	+	7	652	c.510C>T	c.(508-510)gaC>gaT	p.D170D	ANAPC4_ENST00000510092.1_Silent_p.D170D	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4			27		Breast(46;0.0503)			TCTTGGGAGACGTCAGGTAAA	0.294000																								0							SO:0001819	synonymous_variant			ENST00000315368.3	1	1	hg19	CCDS3434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	1	0	1	29	184	0	36	1	9.910552e-01	14	36	0	36	2		0	0	0	0	0	2	1	1	28	180	0	36	2								-20.000000	1	1	121250	2	28	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999639	0.990000	1	9.900000e-01	1
ANAPC4	29945	broad.mit.edu	37	4	25393972	25393972	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25393972C>A	ENST00000315368.3	+	10	860	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4			27		Breast(46;0.0503)			TGAAACTAATCTGTTGTACTC	0.358000																								0							SO:0001583	missense			ENST00000315368.3	1	1	hg19	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177817	0.57692	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.36878	1.24;1.23	5.72	5.72	0.89469	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.63843	1.955	0.47123	D	0.999326	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.55418	-0.8144	10	0.59425	D	0.04	-12.3556	11.2235	0.48869	0.0:0.859:0.0:0.141	.	240;240;240	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	M	240	ENSP00000318775:L240M;ENSP00000426654:L240M	ENSP00000318775:L240M	L	+	1	2	ANAPC4	25003070	0.929000	0.31497	0.971000	0.41717	0.830000	0.47004	1.862000	0.39448	2.711000	0.92665	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	1	0	1	44	235	0	51	1	9.973536e-01	15	36	0	51	2		0	0	0	0	0	2	1	1	44	232	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ANAPC4	29945	broad.mit.edu	37	4	25418146	25418146	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418146C>A	ENST00000315368.3	+	27	2143	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	ANAPC4_ENST00000510092.1_Silent_p.V668V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4			27		Breast(46;0.0503)			GACTCTTGGTCCAGCTGCCTT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000315368.3	1	1	hg19	CCDS3434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	1	0	1	52	253	0	56	1	9.999890e-01	29	56	0	56	2		0	0	0	0	0	2	1	1	52	251	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANAPC4	29945	broad.mit.edu	37	4	25418162	25418162	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418162T>G	ENST00000315368.3	+	27	2159	c.2017T>G	c.(2017-2019)Tta>Gta	p.L673V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L674V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4			27		Breast(46;0.0503)			GCCTTTGTCTTTAGTATATAA	0.358000																								0							SO:0001583	missense			ENST00000315368.3	0	1	hg19	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	T	8.177	0.792979	0.16327	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.30714	1.52;1.52	5.68	4.4	0.53042	.	0.582512	0.18955	N	0.126564	T	0.16342	0.0393	N	0.19112	0.55	0.24966	N	0.991691	B	0.29716	0.255	B	0.21360	0.034	T	0.19647	-1.0299	10	0.12766	T	0.61	1.9083	9.7585	0.40517	0.0:0.0994:0.0:0.9006	.	673	Q9UJX5	APC4_HUMAN	V	673;674	ENSP00000318775:L673V;ENSP00000426654:L674V	ENSP00000318775:L673V	L	+	1	2	ANAPC4	25027260	0.824000	0.29247	0.509000	0.27700	0.972000	0.66771	1.617000	0.36943	0.852000	0.35287	0.445000	0.29226	TTA		TCGA-IB-7651-01A-11D-2154-08	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	0	0	0	6	324	0	63	0	4.568694e-01	0	76	0	63	2		0	0	0	0	0	2	1	9.646799e-01	6	322	0	62	2								-6.783441	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.230000	0.090000	1.000000	0.210000	0.288010	0.230000	0	1.500000e-01	3.600000e-01
SLC34A2	10568	broad.mit.edu	37	4	25671453	25671453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25671453C>T	ENST00000382051.3	+	7	870	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2		SLC34A2/ROS1(14)	41		Breast(46;0.0503)			CTTCACAAAGCTCATTGTCCA	0.463000			T	ROS1	NSCLC										Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0							SO:0001583	missense			ENST00000382051.3	1	1	hg19	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592077	0.66219	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.26660	1.73;1.72;1.73	5.39	4.53	0.55603	.	0.470827	0.24917	N	0.034573	T	0.48768	0.1518	M	0.85710	2.77	0.39028	D	0.95987	P;B	0.51791	0.948;0.086	P;B	0.56823	0.807;0.036	T	0.55724	-0.8096	10	0.30854	T	0.27	-30.4741	14.7178	0.69284	0.0:0.7251:0.2749:0.0	.	273;274	O95436-2;O95436	.;NPT2B_HUMAN	F	273;274;273	ENSP00000425501:L273F;ENSP00000371483:L274F;ENSP00000423021:L273F	ENSP00000371483:L274F	L	+	1	0	SLC34A2	25280551	1.000000	0.71417	0.956000	0.39512	0.953000	0.61014	1.867000	0.39499	1.372000	0.46190	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	1	124	568	0	142	1	9.989066e-01	16	32	0	142	2		0	0	0	0	0	2	1	1	120	555	0	141	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC34A2	10568	broad.mit.edu	37	4	25672428	25672428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25672428G>A	ENST00000382051.3	+	8	950	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SLC34A2_ENST00000503434.1_Silent_p.K299K|SLC34A2_ENST00000504570.1_Silent_p.K299K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2		SLC34A2/ROS1(14)	41		Breast(46;0.0503)			GTCTTGTCAAGATTTGGTGCA	0.408000			T	ROS1	NSCLC										Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0							SO:0001819	synonymous_variant			ENST00000382051.3	1	1	hg19	CCDS3435.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	1	27	188	0	47	1	9.843961e-01	22	27	0	47	2		0	0	0	0	0	2	1	1	26	186	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998602	0.990000	1	9.900000e-01	1
SLC34A2	10568	broad.mit.edu	37	4	25674748	25674748	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25674748C>A	ENST00000382051.3	+	10	1138	c.1088C>A	c.(1087-1089)gCt>gAt	p.A363D	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2		SLC34A2/ROS1(14)	41		Breast(46;0.0503)			CCGGATCTTGCTGTGGGCACC	0.532000			T	ROS1	NSCLC										Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0							SO:0001583	missense			ENST00000382051.3	1	1	hg19	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168115	0.38315	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.25912	1.77;1.77;1.77	5.28	0.993	0.19825	.	0.197636	0.53938	D	0.000059	T	0.45935	0.1367	M	0.89214	3.015	0.53688	D	0.999974	D;P	0.60160	0.987;0.955	P;P	0.58928	0.848;0.71	T	0.43988	-0.9357	10	0.62326	D	0.03	-4.0036	7.2379	0.26079	0.0:0.6647:0.1176:0.2177	.	362;363	O95436-2;O95436	.;NPT2B_HUMAN	D	362;363;362	ENSP00000425501:A362D;ENSP00000371483:A363D;ENSP00000423021:A362D	ENSP00000371483:A363D	A	+	2	0	SLC34A2	25283846	0.032000	0.19561	0.001000	0.08648	0.024000	0.10985	0.470000	0.22084	0.223000	0.20920	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	0	0	0	14	510	0	105	0	7.104601e-01	0	91	0	105	2		0	0	0	0	0	2	1	9.997280e-01	14	501	0	104	2								-2.988381	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.320000	0.180000	1.000000	0.310000	0.371564	0.320000	0	2.400000e-01	4.400000e-01
SLC34A2	10568	broad.mit.edu	37	4	25677760	25677760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25677760G>A	ENST00000382051.3	+	13	1512	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	p.A488S(1)	SLC34A2/ROS1(14)	41		Breast(46;0.0503)			GTTGCAGATCGCCCTGTGCCA	0.602000			T	ROS1	NSCLC										Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000382051.3	1	1	hg19	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389047	0.82902	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.87179	-2.22;-2.22;-2.22	5.04	4.13	0.48395	.	0.106321	0.64402	D	0.000005	D	0.89396	0.6703	M	0.83483	2.645	0.80722	D	1	P;P	0.49447	0.924;0.869	B;P	0.46208	0.311;0.507	D	0.91155	0.4956	10	0.62326	D	0.03	-35.5842	14.5209	0.67849	0.0:0.0:0.8528:0.1472	.	487;488	O95436-2;O95436	.;NPT2B_HUMAN	T	487;488;487	ENSP00000425501:A487T;ENSP00000371483:A488T;ENSP00000423021:A487T	ENSP00000371483:A488T	A	+	1	0	SLC34A2	25286858	1.000000	0.71417	0.996000	0.52242	0.811000	0.45836	6.559000	0.73946	2.504000	0.84457	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	1	35	197	0	27	1	9.964974e-01	7	45	0	27	2		0	0	0	0	0	2	1	1	34	191	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
SLC34A2	10568	broad.mit.edu	37	4	25678117	25678117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678117G>A	ENST00000382051.3	+	13	1869	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2		SLC34A2/ROS1(14)	41		Breast(46;0.0503)			GGATGCCGTCGTCTCCAAGTT	0.647000			T	ROS1	NSCLC										Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0							SO:0001583	missense			ENST00000382051.3	1	1	hg19	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.718847	0.00700	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20881	2.04;2.04;2.04	5.48	-8.75	0.00834	.	0.547357	0.21007	N	0.081741	T	0.04092	0.0114	N	0.01535	-0.81	0.09310	N	1	B;B	0.20052	0.041;0.004	B;B	0.19391	0.025;0.004	T	0.24693	-1.0153	10	0.02654	T	1	-15.9216	10.1574	0.42831	0.2074:0.0912:0.6111:0.0903	.	606;607	O95436-2;O95436	.;NPT2B_HUMAN	I	606;607;606	ENSP00000425501:V606I;ENSP00000371483:V607I;ENSP00000423021:V606I	ENSP00000371483:V607I	V	+	1	0	SLC34A2	25287215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.738000	0.04871	-1.512000	0.01791	-2.511000	0.00188	GTC		TCGA-IB-7651-01A-11D-2154-08	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	1	93	385	0	76	1	9.999069e-01	28	30	0	76	2		0	0	0	0	0	2	1	1	92	382	0	74	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC34A2	10568	broad.mit.edu	37	4	25678182	25678182	+	Silent	SNP	G	G	A	rs141191689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678182G>A	ENST00000382051.3	+	13	1934	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	SLC34A2_ENST00000503434.1_Silent_p.A627A|SLC34A2_ENST00000504570.1_Silent_p.A627A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2		SLC34A2/ROS1(14)	41		Breast(46;0.0503)			gctgccgcgcgtgctgcttgc	0.657000			T	ROS1	NSCLC										Dom	yes		4	4p15.2	10568	solute carrier family 34 (sodium phosphate), member 2		E	0							SO:0001819	synonymous_variant			ENST00000382051.3	1	1	hg19	CCDS3435.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	1	0	1	53	248	0	42	1	9.601501e-01	16	11	0	42	2		0	0	0	0	0	2	1	1	52	242	0	41	2								-20.000000	1	0	121390	14	42	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEL1L3	23231	broad.mit.edu	37	4	25806207	25806207	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25806207C>A	ENST00000399878.3	-	10	1854	c.1732G>T	c.(1732-1734)Gtc>Ttc	p.V578F	SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)			14					TCATAAAAGACTGCAAGGTAG	0.423000																								0							SO:0001583	missense			ENST00000399878.3	0	1	hg19	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141414	0.57044	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.55234	0.53;0.53;0.53	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.278006	0.40818	N	0.001003	T	0.71256	0.3318	M	0.64997	1.995	0.48762	D	0.999701	D	0.89917	1.0	D	0.83275	0.996	T	0.64466	-0.6401	10	0.29301	T	0.29	-31.0739	20.2822	0.98520	0.0:1.0:0.0:0.0	.	578	Q68CR1	SE1L3_HUMAN	F	578;543;425	ENSP00000382767:V578F;ENSP00000264868:V543F;ENSP00000425438:V425F	ENSP00000264868:V543F	V	-	1	0	SEL1L3	25415305	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.078000	0.57606	2.806000	0.96561	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	1	0	1	15	84	0	18	1	1	202	398	0	18	2		0	0	0	0	0	2	1	9.999165e-01	15	84	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998380	0.990000	1	9.900000e-01	1
SEL1L3	23231	broad.mit.edu	37	4	25831741	25831741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25831741C>T	ENST00000399878.3	-	6	1258	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	SEL1L3_ENST00000513364.1_5'Flank|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)			14					ATTGTGGTAGCTTTTCAAATC	0.403000																								0							SO:0001583	missense			ENST00000399878.3	1	1	hg19	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817053	0.16607	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.22336	1.96;1.96;1.96	5.51	3.7	0.42460	.	0.608051	0.19394	N	0.115339	T	0.11793	0.0287	N	0.22421	0.69	0.22903	N	0.998582	B	0.09022	0.002	B	0.04013	0.001	T	0.33879	-0.9851	10	0.16896	T	0.51	-2.3838	6.5098	0.22216	0.0:0.7152:0.1836:0.1012	.	379	Q68CR1	SE1L3_HUMAN	N	379;344;226	ENSP00000382767:S379N;ENSP00000264868:S344N;ENSP00000425438:S226N	ENSP00000264868:S344N	S	-	2	0	SEL1L3	25440839	0.983000	0.35010	0.431000	0.26735	0.319000	0.28217	1.330000	0.33781	0.611000	0.30052	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	1	0	1	16	74	0	26	1	1	152	338	0	26	2		0	0	0	0	0	2	1	9.999581e-01	16	73	0	26	2								-11.628460	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999648	0.990000	1	9.900000e-01	1
RBPJ	3516	broad.mit.edu	37	4	26417218	26417218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26417218G>T	ENST00000361572.6	+	4	510	c.316G>T	c.(316-318)Gga>Tga	p.G106*	RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.G92*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region			15		Breast(46;0.0503)			TATTGGGATAGGAAATAGTGA	0.413000																								0							SO:0001587	stop_gained			ENST00000361572.6	0	1	hg19	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278968	0.95489	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.5728	19.4292	0.94758	0.0:0.0:1.0:0.0	.	.	.	.	X	92;129;92;106;91;106;106;93;92;71;92;71;92;71;92;92;92;71	.	ENSP00000345206:G106X	G	+	1	0	RBPJ	26026316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.378000	0.97191	2.664000	0.90586	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	1	0	1	144	665	0	167	1	1	2	133	0	167	2		0	0	0	0	0	2	1	1	142	654	0	165	2								-3.249017	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBPJ	3516	broad.mit.edu	37	4	26430396	26430396	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26430396T>G	ENST00000361572.6	+	8	1035	c.841T>G	c.(841-843)Tca>Gca	p.S281A	RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A|RBPJ_ENST00000342320.4_Missense_Mutation_p.S267A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A|RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region			15		Breast(46;0.0503)			TGATCCTGTGTCACAACTCCA	0.313000																								0							SO:0001583	missense			ENST00000361572.6	1	1	hg19	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623780	0.87460	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320;ENST00000504423	T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.51	5.51	0.81932	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.76433	2.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.993;0.989;0.989;0.993	T	0.65952	-0.6043	10	0.87932	D	0	-14.0998	15.6036	0.76646	0.0:0.0:0.0:1.0	.	281;267;268;267;266;281	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	A	266;281;281;268;267;246;267;267;19	ENSP00000305815:S266A;ENSP00000345206:S281A;ENSP00000354528:S281A;ENSP00000339699:S268A;ENSP00000347659:S267A;ENSP00000423907:S246A;ENSP00000423703:S267A;ENSP00000340124:S267A;ENSP00000421804:S19A	ENSP00000345206:S281A	S	+	1	0	RBPJ	26039494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.100000	0.63781	0.533000	0.62120	TCA		TCGA-IB-7651-01A-11D-2154-08	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	1	0	1	36	150	0	34	1	1	4	196	0	34	2		0	0	0	0	0	2	1	1	36	148	0	34	2								-19.994980	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCKAR	886	broad.mit.edu	37	4	26483316	26483316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483316C>A	ENST00000295589.3	-	5	1425	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor			29		Breast(46;0.0503)		Ceruletide(DB00403)	GACAGAGAGGCTCCTGTGGTC	0.667000																								0							SO:0001583	missense			ENST00000295589.3	1	1	hg19	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156622	0.57259	.	.	ENSG00000163394	ENST00000295589	T	0.52754	0.65	5.26	5.26	0.73747	.	0.267689	0.37136	N	0.002234	T	0.59376	0.2189	M	0.74258	2.255	0.37303	D	0.908806	D	0.55605	0.972	P	0.53102	0.718	T	0.60934	-0.7164	10	0.09084	T	0.74	.	18.8577	0.92259	0.0:1.0:0.0:0.0	.	411	P32238	CCKAR_HUMAN	S	411	ENSP00000295589:A411S	ENSP00000295589:A411S	A	-	1	0	CCKAR	26092414	1.000000	0.71417	0.802000	0.32245	0.053000	0.15095	6.257000	0.72480	2.452000	0.82932	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2	0	0	1	91	753	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	87	739	0	127	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999685	0.990000	1	9.900000e-01	1
CCKAR	886	broad.mit.edu	37	4	26483762	26483762	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483762T>G	ENST00000295589.3	-	5	979	c.785A>C	c.(784-786)aAa>aCa	p.K262T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor			29		Breast(46;0.0503)		Ceruletide(DB00403)	GTCCTCATATTTGCCGCTGCT	0.617000																								0							SO:0001583	missense			ENST00000295589.3	1	1	hg19	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	T	1.656	-0.512836	0.04200	.	.	ENSG00000163394	ENST00000295589	T	0.52057	0.68	5.22	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	0.297788	0.35870	N	0.002939	T	0.28400	0.0702	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.15925	-1.0420	10	0.12103	T	0.63	.	2.5809	0.04818	0.1187:0.2967:0.1177:0.4669	.	262	P32238	CCKAR_HUMAN	T	262	ENSP00000295589:K262T	ENSP00000295589:K262T	K	-	2	0	CCKAR	26092860	0.943000	0.32029	0.000000	0.03702	0.023000	0.10783	1.881000	0.39638	-0.333000	0.08476	-0.624000	0.04008	AAA		TCGA-IB-7651-01A-11D-2154-08	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2	1	0	1	107	463	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	104	457	0	93	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCKAR	886	broad.mit.edu	37	4	26491823	26491823	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26491823C>T	ENST00000295589.3	-	1	261	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor			29		Breast(46;0.0503)		Ceruletide(DB00403)	GTCTCATTTTCGAGCCCGAGT	0.483000																								0							SO:0001583	missense			ENST00000295589.3	1	1	hg19	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575313	0.45902	.	.	ENSG00000163394	ENST00000295589	T	0.51071	0.72	5.27	4.42	0.53409	Cholecystokinin A receptor, N-terminal (2);	0.151828	0.43579	D	0.000542	T	0.38585	0.1046	L	0.60455	1.87	0.36322	D	0.858324	B	0.16603	0.018	B	0.12156	0.007	T	0.32052	-0.9921	10	0.07644	T	0.81	.	10.6755	0.45783	0.0:0.913:0.0:0.087	.	23	P32238	CCKAR_HUMAN	K	23	ENSP00000295589:E23K	ENSP00000295589:E23K	E	-	1	0	CCKAR	26100921	0.774000	0.28592	0.115000	0.21578	0.971000	0.66376	1.594000	0.36697	2.477000	0.83638	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2	1	0	1	46	159	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	44	155	0	38	2								-3.769260	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D19	55296	broad.mit.edu	37	4	26638889	26638889	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26638889T>C	ENST00000264866.4	+	5	629	c.351T>C	c.(349-351)agT>agC	p.S117S	AC093807.1_ENST00000580172.1_RNA|TBC1D19_ENST00000511789.1_Silent_p.S52S|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19			17		Breast(46;0.0503)			CTGAACTGAGTATCCCACTGG	0.303000																								0							SO:0001819	synonymous_variant			ENST00000264866.4	1	1	hg19	CCDS3439.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	1	0	1	75	342	0	52	1	8.097913e-01	5	11	0	52	2		0	0	0	0	0	2	1	1	73	335	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNIP2	79155	broad.mit.edu	37	4	2747209	2747209	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2747209C>A	ENST00000315423.7	-	3	707	c.621G>T	c.(619-621)caG>caT	p.Q207H	TNIP2_ENST00000510267.1_Missense_Mutation_p.Q100H|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2			14					GATTTTCTTCCTGCAACTTCT	0.448000																								0							SO:0001583	missense			ENST00000315423.7	1	1	hg19	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927050	0.34002	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.57752	0.4;0.38;0.93	5.07	3.3	0.37823	.	0.519194	0.20701	N	0.087269	T	0.64627	0.2615	M	0.68593	2.085	0.31082	N	0.7118	D;P	0.76494	0.999;0.8	D;B	0.69654	0.965;0.259	T	0.65697	-0.6105	10	0.72032	D	0.01	-11.7897	6.4389	0.21839	0.0:0.6687:0.1531:0.1782	.	207;207	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	H	100;207;207	ENSP00000427613:Q100H;ENSP00000321203:Q207H;ENSP00000426314:Q207H	ENSP00000321203:Q207H	Q	-	3	2	TNIP2	2717007	1.000000	0.71417	0.176000	0.23000	0.011000	0.07611	3.557000	0.53741	0.511000	0.28236	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	1	0	1	25	131	0	21	1	1	76	159	0	21	2		0	0	0	0	0	2	1	9.999999e-01	25	129	0	21	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999916	0.990000	1	9.900000e-01	1
NOP14	8602	broad.mit.edu	37	4	2964855	2964855	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2964855C>T	ENST00000314262.6	-	1	240	c.192G>A	c.(190-192)agG>agA	p.R64R	GRK4_ENST00000504933.1_5'Flank|GRK4_ENST00000442472.2_5'Flank|NOP14_ENST00000416614.2_Silent_p.R64R|NOP14_ENST00000398071.4_Silent_p.R64R|GRK4_ENST00000345167.6_5'Flank|GRK4_ENST00000398052.4_5'Flank|GRK4_ENST00000398051.4_5'Flank|NOP14_ENST00000502735.1_Silent_p.R64R|GRK4_ENST00000503518.2_5'Flank|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein			30					CGCTTACCTTCCTGAGGGCCC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000314262.6	1	1	hg19	CCDS33945.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	1	0	0	76	289	0	56	1	9.999839e-01	15	49	0	56	2		0	0	0	0	0	2	1	1	74	283	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH7	5099	broad.mit.edu	37	4	30723931	30723931	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30723931T>C	ENST00000361762.2	+	1	1895	c.887T>C	c.(886-888)gTc>gCc	p.V296A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7			55					ATCCTACGGGTCCTCATCACC	0.687000																								0							SO:0001583	missense			ENST00000361762.2	0	1	hg19	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329591	0.81690	.	.	ENSG00000169851	ENST00000361762;ENST00000543491	T;T	0.72505	-0.66;-0.66	5.08	5.08	0.68730	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89033	0.6600	H	0.97023	3.925	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.74348	0.971;0.983	D	0.92703	0.6176	9	0.87932	D	0	.	14.8453	0.70257	0.0:0.0:0.0:1.0	.	296;296	F5GWJ1;O60245	.;PCDH7_HUMAN	A	296	ENSP00000355243:V296A;ENSP00000441802:V296A	ENSP00000355243:V296A	V	+	2	0	PCDH7	30333029	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.245000	0.72398	1.897000	0.54924	0.454000	0.30748	GTC		TCGA-IB-7651-01A-11D-2154-08	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	1	0	0	17	73	0	8	1	9.999984e-01	51	65	0	8	2		0	0	0	0	0	2	1	9.999798e-01	17	72	0	8	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999844	0.990000	1	9.900000e-01	1
PCDH7	5099	broad.mit.edu	37	4	30725148	30725148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30725148C>T	ENST00000361762.2	+	1	3112	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7			55					GTCTTTTGACCGGGAACATCA	0.468000																								0							SO:0001583	missense			ENST00000361762.2	1	1	hg19	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.221890|2.221890	0.39300|0.39300	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.60299	.|0.2;0.2	5.25|5.25	2.43|2.43	0.29744|0.29744	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	D|D	0.83440|0.83440	0.5255|0.5255	H|H	0.97291|0.97291	3.975|3.975	0.49130|0.49130	D|D	0.999753|0.999753	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.88153|0.88153	0.2852|0.2852	5|9	.|0.87932	.|D	.|0	.|.	14.7006|14.7006	0.69154|0.69154	0.6418:0.3582:0.0:0.0|0.6418:0.3582:0.0:0.0	.|.	.|702;655;702	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	L|W	391|702;702;655	.|ENSP00000355243:R702W;ENSP00000441802:R702W	.|ENSP00000330302:R655W	P|R	+|+	2|1	0|2	PCDH7|PCDH7	30334246|30334246	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.084000|0.084000	0.14891|0.14891	0.285000|0.285000	0.22329|0.22329	0.655000|0.655000	0.94253|0.94253	CCG|CGG		TCGA-IB-7651-01A-11D-2154-08	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	1	0	1	126	675	0	150	1	1	434	434	0	150	2		0	0	0	0	0	2	1	1	126	665	0	150	2								-2.620287	1	1	121412	1	24	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTT	3064	broad.mit.edu	37	4	3133503	3133503	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3133503G>A	ENST00000355072.5	+	16	2381		c.e16+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin			87		all_epithelial(65;0.18)			GAATACCCTGGTATGTTAAAA	0.403000																								0							SO:0001630	splice_region_variant			ENST00000355072.5	1	1	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734557	0.30774	.	.	ENSG00000197386	ENST00000355072	.	.	.	4.98	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2134	0.59839	0.0767:0.0:0.9233:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3103301	1.000000	0.71417	0.841000	0.33234	0.231000	0.25187	7.012000	0.76366	1.331000	0.45412	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1	87	380	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	87	372	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTT	3064	broad.mit.edu	37	4	3142376	3142376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3142376A>C	ENST00000355072.5	+	22	3083	c.2938A>C	c.(2938-2940)Ata>Cta	p.I980L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin			87		all_epithelial(65;0.18)			CGTCAGCACAATAACCAGGTA	0.443000																								0							SO:0001583	missense			ENST00000355072.5	1	1	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612991	0.28712	.	.	ENSG00000197386	ENST00000355072	T	0.63580	-0.05	4.97	1.25	0.21368	Armadillo-type fold (1);	0.047013	0.85682	D	0.000000	T	0.47728	0.1461	L	0.38175	1.15	0.46078	D	0.998853	B	0.21225	0.053	B	0.20184	0.028	T	0.35500	-0.9786	10	0.42905	T	0.14	.	9.0413	0.36319	0.8028:0.0:0.1972:0.0	.	980	P42858	HD_HUMAN	L	980	ENSP00000347184:I980L	ENSP00000347184:I980L	I	+	1	0	HTT	3112174	0.985000	0.35326	0.569000	0.28460	0.964000	0.63967	2.603000	0.46266	0.337000	0.23665	0.533000	0.62120	ATA		TCGA-IB-7651-01A-11D-2154-08	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1	44	202	0	55	1	9.984351e-01	10	38	0	55	2		0	0	0	0	0	2	1	1	43	201	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTT	3064	broad.mit.edu	37	4	3144596	3144596	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3144596A>G	ENST00000355072.5	+	23	3194	c.3049A>G	c.(3049-3051)Acc>Gcc	p.T1017A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin			87		all_epithelial(65;0.18)			AATCACATCAACCACCAGAGC	0.383000																								0							SO:0001583	missense			ENST00000355072.5	1	1	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042956	0.55003	.	.	ENSG00000197386	ENST00000355072	T	0.05382	3.45	5.24	5.24	0.73138	Armadillo-type fold (1);	0.051878	0.85682	D	0.000000	T	0.09158	0.0226	M	0.62723	1.935	0.50813	D	0.999893	P	0.39940	0.696	B	0.37601	0.254	T	0.02581	-1.1138	10	0.72032	D	0.01	.	10.9659	0.47412	0.8601:0.0:0.0:0.1399	.	1017	P42858	HD_HUMAN	A	1017	ENSP00000347184:T1017A	ENSP00000347184:T1017A	T	+	1	0	HTT	3114394	1.000000	0.71417	0.829000	0.32907	0.989000	0.77384	5.669000	0.68081	1.977000	0.57605	0.528000	0.53228	ACC		TCGA-IB-7651-01A-11D-2154-08	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1	100	494	0	107	1	9.836468e-01	8	26	0	107	2		0	0	0	0	0	2	1	1	97	479	0	105	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTT	3064	broad.mit.edu	37	4	3146887	3146887	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3146887C>T	ENST00000355072.5	+	24	3220	c.3075C>T	c.(3073-3075)tgC>tgT	p.C1025C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin			87		all_epithelial(65;0.18)			AGTTTGGATGCTGTGAAGCTT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000355072.5	1	1	hg19	CCDS43206.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	0	53	546	0	91	1	8.685488e-01	6	33	0	91	2		0	0	0	0	0	2	1	1	52	537	0	91	2								-14.632440	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.790000	1.000000	1.000000	0.971092	0.990000	1	9.100000e-01	1
HTT	3064	broad.mit.edu	37	4	3240630	3240630	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3240630C>T	ENST00000355072.5	+	66	9285	c.9140C>T	c.(9139-9141)gCc>gTc	p.A3047V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin			87		all_epithelial(65;0.18)			ACGCAGAGGGCCCCGGTCGCC	0.642000																								0							SO:0001583	missense			ENST00000355072.5	1	1	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340021	0.60963	.	.	ENSG00000197386	ENST00000355072	T	0.68025	-0.3	5.13	2.22	0.28083	.	0.286284	0.38548	N	0.001646	T	0.46639	0.1403	N	0.08118	0	0.19575	N	0.999967	B	0.18013	0.025	B	0.21151	0.033	T	0.38714	-0.9648	10	0.40728	T	0.16	.	15.0088	0.71533	0.0:0.594:0.406:0.0	.	3047	P42858	HD_HUMAN	V	3047	ENSP00000347184:A3047V	ENSP00000347184:A3047V	A	+	2	0	HTT	3210428	0.999000	0.42202	0.018000	0.16275	0.696000	0.40369	4.057000	0.57455	0.523000	0.28482	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	1	0	1	31	97	0	15	1	9.999999e-01	19	75	0	15	2		0	0	0	0	0	2	1	1	30	94	0	15	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS12	6002	broad.mit.edu	37	4	3317942	3317942	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3317942G>A	ENST00000344733.5	+	2	949	c.45G>A	c.(43-45)ccG>ccA	p.P15P	RGS12_ENST00000382788.3_Silent_p.P15P|RGS12_ENST00000336727.3_Silent_p.P15P|RGS12_ENST00000543385.1_Silent_p.P15P	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12			43					TGCCTGGGCCGTCGCCCCCAA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000344733.5	1	1	hg19	CCDS3366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	1	148	636	0	122	1	9.258186e-01	5	16	0	122	2		0	0	0	0	0	2	1	1	148	629	0	120	2								-20.000000	1	0	121364	6	43	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS12	6002	broad.mit.edu	37	4	3318639	3318639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318639G>A	ENST00000344733.5	+	2	1646	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RGS12_ENST00000382788.3_Missense_Mutation_p.E248K|RGS12_ENST00000336727.3_Missense_Mutation_p.E248K|RGS12_ENST00000543385.1_Missense_Mutation_p.E248K	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12			43					CTCCAACCTGGAGTCCGACAG	0.537000																								0							SO:0001583	missense			ENST00000344733.5	1	1	hg19	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058037	0.76074	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.19394	2.15;2.55;2.55;2.55	4.54	3.69	0.42338	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.941;0.997;0.999	T	0.41805	-0.9488	10	0.39692	T	0.17	-39.8041	13.7741	0.63044	0.0:0.1547:0.8453:0.0	.	248;248;248	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	K	248	ENSP00000440566:E248K;ENSP00000339381:E248K;ENSP00000338509:E248K;ENSP00000372238:E248K	ENSP00000338509:E248K	E	+	1	0	RGS12	3288437	1.000000	0.71417	0.789000	0.31954	0.607000	0.37147	9.493000	0.97960	0.889000	0.36185	0.491000	0.48974	GAG		TCGA-IB-7651-01A-11D-2154-08	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	0	20	382	0	61	0	4.265085e-01	1	27	0	61	2		0	0	0	0	0	2	1	9.999950e-01	19	378	0	61	2								-19.969710	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.600000	0.370000	1.000000	0.590000	0.629614	0.600000	0	4.700000e-01	7.700000e-01
RGS12	6002	broad.mit.edu	37	4	3318679	3318679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318679G>A	ENST00000344733.5	+	2	1686	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RGS12_ENST00000382788.3_Missense_Mutation_p.R261H|RGS12_ENST00000336727.3_Missense_Mutation_p.R261H|RGS12_ENST00000543385.1_Missense_Mutation_p.R261H	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12			43					TGCATGCGGCGCCTGCGGGCA	0.597000																								0							SO:0001583	missense			ENST00000344733.5	1	1	hg19	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244640	0.79912	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.23552	1.9;2.51;2.51;2.51	4.39	4.39	0.52855	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.97;0.988	T	0.62158	-0.6913	10	0.87932	D	0	-30.3977	15.9516	0.79843	0.0:0.0:1.0:0.0	.	261;261;261	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	H	261	ENSP00000440566:R261H;ENSP00000339381:R261H;ENSP00000338509:R261H;ENSP00000372238:R261H	ENSP00000338509:R261H	R	+	2	0	RGS12	3288477	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.417000	0.73337	1.989000	0.58080	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	1	69	267	0	50	1	8.134853e-01	2	12	0	50	2		0	0	0	0	0	2	1	1	67	263	0	48	2								-20.000000	1	0	121412	1	31	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS12	6002	broad.mit.edu	37	4	3432402	3432402	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3432402C>A	ENST00000344733.5	+	17	4738	c.3834C>A	c.(3832-3834)gcC>gcA	p.A1278A	RGS12_ENST00000336727.3_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000338806.4_Silent_p.A630A|RGS12_ENST00000382788.3_Silent_p.A1278A	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12			43					CGGGCTCAGCCTCCAGCCCCC	0.741000																								0							SO:0001819	synonymous_variant			ENST00000344733.5	1	1	hg19	CCDS3366.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	1	18	87	0	18	1	9.980686e-01	15	39	0	18	2		0	0	0	0	0	2	1	9.999844e-01	18	82	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999740	0.990000	1	9.900000e-01	1
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3441290C>A	ENST00000344733.5	+	18	5127	c.4223C>A	c.(4222-4224)gCt>gAt	p.A1408D	RGS12_ENST00000338806.4_Missense_Mutation_p.A760D|HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12			43					GGGGCACAGGCTGGCCCTGGG	0.662000																								0							SO:0001583	missense			ENST00000344733.5	1	1	hg19	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453747	0.26161	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.34859	1.64;1.34	2.59	1.24	0.21308	.	2.890200	0.02424	U	0.082860	T	0.25382	0.0617	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27700	0.16;0.186;0.18	B;B;B	0.32533	0.06;0.147;0.07	T	0.26467	-1.0102	10	0.49607	T	0.09	-0.0458	4.2025	0.10473	0.0:0.699:0.0:0.301	.	750;760;1408	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	D	1408;760	ENSP00000339381:A1408D;ENSP00000342133:A760D	ENSP00000342133:A760D	A	+	2	0	RGS12	3411088	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.755000	0.04782	0.327000	0.23409	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	1	0	0	44	228	0	49	1	9.248389e-01	12	12	0	49	2		0	0	0	0	0	2	1	1	43	224	0	49	2								-19.999330	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HGFAC	3083	broad.mit.edu	37	4	3446679	3446679	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3446679C>T	ENST00000382774.3	+	8	1090	c.975C>T	c.(973-975)ggC>ggT	p.G325G	HGFAC_ENST00000511533.1_Silent_p.G325G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator			22					ACTCCGTGGGCGCCGCGGCCC	0.716000																								0							SO:0001819	synonymous_variant			ENST00000382774.3	1	1	hg19	CCDS3369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3	1	0	0	27	96	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1	27	94	0	25	2								-20.000000	1	1	120038	4	33	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DOK7	285489	broad.mit.edu	37	4	3495172	3495172	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3495172G>T	ENST00000340083.5	+	7	1524	c.1459G>T	c.(1459-1461)Gct>Tct	p.A487S	DOK7_ENST00000389653.2_Missense_Mutation_p.A487S|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7			5					GCCACCCCCGGCTTTCTTTTC	0.692000																								0							SO:0001583	missense			ENST00000340083.5	1	1	hg19	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839279	0.32513	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.68903	-0.36;-0.27	3.77	2.92	0.33932	.	0.149388	0.44688	D	0.000440	T	0.78489	0.4291	M	0.73598	2.24	0.09310	N	0.999996	P;D;B	0.71674	0.713;0.998;0.147	B;D;B	0.80764	0.424;0.994;0.035	T	0.68477	-0.5398	10	0.56958	D	0.05	-9.6516	10.5116	0.44866	0.0958:0.0:0.9042:0.0	.	487;349;487	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	S	487	ENSP00000374304:A487S;ENSP00000344432:A487S	ENSP00000344432:A487S	A	+	1	0	DOK7	3464970	0.998000	0.40836	0.043000	0.18650	0.147000	0.21601	2.799000	0.47892	0.812000	0.34326	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	1	0	0	18	66	0	19	0	5.078856e-02	1	1	0	19	2		0	0	0	0	0	2	1	9.999910e-01	17	66	0	19	2								-20.000000	1	1	119868	6	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999961	0.990000	1	9.900000e-01	1
ARAP2	116984	broad.mit.edu	37	4	36118684	36118684	+	Splice_Site	SNP	C	C	T	rs139889832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:36118684C>T	ENST00000303965.4	-	25	4526	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2			82					AGAACTTACCCGAATTATAAT	0.328000																								0							SO:0001630	splice_region_variant			ENST00000303965.4	1	0	hg19	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660559	0.88154	4.54E-4	4.65E-4	ENSG00000047365	ENST00000303965	T	0.18338	2.22	5.76	5.76	0.90799	Ras-association (2);	0.056391	0.64402	D	0.000002	T	0.28267	0.0698	L	0.28274	0.84	0.42707	D	0.993635	D	0.63046	0.992	P	0.58391	0.838	T	0.00695	-1.1606	10	0.51188	T	0.08	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	1346	Q8WZ64	ARAP2_HUMAN	Q	1346	ENSP00000302895:R1346Q	ENSP00000302895:R1346Q	R	-	2	0	ARAP2	35795079	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.102000	0.50291	2.880000	0.98712	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	1	0	1	19	107	0	30	1	8.222219e-01	6	14	0	30	2		0	0	0	0	0	2	1	9.999941e-01	19	106	0	29	2								-3.008592	1	1	121282	12	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999329	0.990000	1	9.900000e-01	1
ZNF141	7700	broad.mit.edu	37	4	367133	367133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367133C>T	ENST00000240499.7	+	4	1056	c.907C>T	c.(907-909)Cga>Tga	p.R303*	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141			18					CAAACATAAGCGAATTCATAC	0.378000																								0							SO:0001587	stop_gained			ENST00000240499.7	0	0	hg19	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219531	0.79464	.	.	ENSG00000131127	ENST00000240499	.	.	.	1.24	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1529	0.20322	0.5097:0.4902:0.0:0.0	.	.	.	.	X	303	.	.	R	+	1	2	ZNF141	357133	0.000000	0.05858	0.186000	0.23195	0.721000	0.41392	-6.005000	0.00086	-0.384000	0.07845	-0.821000	0.03111	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	1	0	1	65	371	0	120	0	2.241722e-01	1	5	0	120	2		0	0	0	0	0	2	1	1	64	363	0	120	2								-3.019274	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF141	7700	broad.mit.edu	37	4	367319	367319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367319C>T	ENST00000240499.7	+	4	1242	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141			18					TACTGGAGAGCGGCCCTACAA	0.408000																								0							SO:0001583	missense			ENST00000240499.7	1	0	hg19	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212050	0.58452	.	.	ENSG00000131127	ENST00000240499	T	0.20332	2.08	1.24	-0.479	0.12089	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32556	0.0833	M	0.68317	2.08	0.23036	N	0.998398	D	0.56746	0.977	P	0.58780	0.845	T	0.14227	-1.0480	8	.	.	.	.	5.2197	0.15362	0.6988:0.3011:0.0:0.0	.	365	Q15928	ZN141_HUMAN	W	365	ENSP00000240499:R365W	.	R	+	1	2	ZNF141	357319	0.822000	0.29219	0.010000	0.14722	0.560000	0.35617	1.523000	0.35932	-0.405000	0.07599	-0.875000	0.02981	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	1	0	1	72	237	0	60	0	7.154250e-01	0	10	0	60	2		0	0	0	0	0	2	1	1	72	228	0	60	2								-4.075306	1	1	121408	3	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF141	7700	broad.mit.edu	37	4	367647	367647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367647C>A	ENST00000240499.7	+	4	1570	c.1421C>A	c.(1420-1422)aCt>aAt	p.T474N	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141			18					AAAATTCATACTTGAGAGAAA	0.328000																								0							SO:0001583	missense			ENST00000240499.7	1	1	hg19	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004459	0.35320	.	.	ENSG00000131127	ENST00000240499	T	0.07444	3.19	1.24	-0.242	0.13039	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18425	0.0442	L	0.54863	1.705	0.23594	N	0.997339	D	0.76494	0.999	D	0.81914	0.995	T	0.11842	-1.0571	8	.	.	.	.	6.5311	0.22328	0.0:0.6973:0.3027:0.0	.	474	Q15928	ZN141_HUMAN	N	474	ENSP00000240499:T474N	.	T	+	2	0	ZNF141	357647	0.021000	0.18746	0.018000	0.16275	0.226000	0.24999	0.903000	0.28475	0.591000	0.29711	0.313000	0.20887	ACT		TCGA-IB-7651-01A-11D-2154-08	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	1	0	1	72	304	0	105	1	7.007508e-01	2	10	0	105	2		0	0	0	0	0	2	1	1	70	296	1	105	13								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C4orf19	55286	broad.mit.edu	37	4	37592370	37592370	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:37592370G>A	ENST00000284437.6	+	3	871	c.693G>A	c.(691-693)acG>acA	p.T231T	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.T231T|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19			9					GTTTGAATACGCCCTTCTCTG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000284437.6	1	1	hg19	CCDS3442.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	1	0	1	36	177	0	44	1	9.996955e-01	18	45	0	44	2		0	0	0	0	0	2	1	1	36	171	0	44	2								-3.384327	1	1	121412	5	35	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ADRA2C	152	broad.mit.edu	37	4	3768871	3768871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768871G>A	ENST00000330055.5	+	1	747	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C			8				Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTCATCTCGGCCGTCATCTC	0.677000													Esophageal Squamous(12;454 628 4517 14479)											0							SO:0001583	missense			ENST00000330055.5	1	1	hg19	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444253	0.83993	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37584	1.19;1.19	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61489	0.2351	M	0.83223	2.63	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.69771	-0.5055	9	0.87932	D	0	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	180;180	D6RGL0;P18825	.;ADA2C_HUMAN	T	180	ENSP00000426268:A180T;ENSP00000386069:A180T	ENSP00000386069:A180T	A	+	1	0	ADRA2C	3738669	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.710000	0.74670	1.706000	0.51276	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	1	0	0	31	122	0	25	1	9.978104e-01	10	31	0	25	2		0	0	0	0	0	2	1	1	29	120	0	25	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ADRA2C	152	broad.mit.edu	37	4	3768908	3768908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768908G>A	ENST00000330055.5	+	1	784	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C			8				Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGCTCTACCGCCAGCCCGAC	0.667000													Esophageal Squamous(12;454 628 4517 14479)											0							SO:0001583	missense			ENST00000330055.5	1	1	hg19	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722940	0.48728	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37915	1.17;1.17	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.31071	0.0785	L	0.53617	1.68	0.50171	D	0.999851	P;B	0.42584	0.784;0.344	B;B	0.34452	0.183;0.07	T	0.30592	-0.9973	9	0.45353	T	0.12	.	13.8998	0.63797	0.0:0.0:1.0:0.0	.	192;192	D6RGL0;P18825	.;ADA2C_HUMAN	H	192	ENSP00000426268:R192H;ENSP00000386069:R192H	ENSP00000386069:R192H	R	+	2	0	ADRA2C	3738706	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.140000	0.58031	1.706000	0.51276	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	1	0	0	30	107	0	21	1	9.223401e-01	2	16	0	21	2		0	0	0	0	0	2	1	1	29	104	0	19	2								-20.000000	1	0	120914	1	22	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLR1	7096	broad.mit.edu	37	4	38798201	38798201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38798201G>A	ENST00000502213.2	-	3	2481	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.A751V			Q15399	TLR1_HUMAN	toll-like receptor 1			28					AGTCCTCCTGGCCATGAGACT	0.443000													GBM(5;216 373 40795 46382)											0							SO:0001583	missense			ENST00000502213.2	1	1	hg19	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838515	0.32513	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	D;D	0.83419	-1.72;-1.72	5.2	3.44	0.39384	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.292074	0.28135	N	0.016470	D	0.83547	0.5278	M	0.71581	2.175	0.37433	D	0.914121	P	0.41929	0.765	P	0.45794	0.493	D	0.85029	0.0916	10	0.72032	D	0.01	.	10.1212	0.42621	0.0714:0.0:0.7915:0.1371	.	751	Q15399	TLR1_HUMAN	V	751	ENSP00000354932:A751V;ENSP00000421259:A751V	ENSP00000354932:A751V	A	-	2	0	TLR1	38474596	0.270000	0.24152	0.617000	0.29091	0.051000	0.14879	1.387000	0.34430	0.677000	0.31305	-0.251000	0.11542	GCC		TCGA-IB-7651-01A-11D-2154-08	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3	1	0	1	74	316	0	91	0	9.998825e-01	1	58	0	91	2		0	0	0	0	0	2	1	1	73	311	0	91	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLR1	7096	broad.mit.edu	37	4	38800423	38800423	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800423G>T	ENST00000502213.2	-	3	259	c.30C>A	c.(28-30)atC>atA	p.I10I	TLR1_ENST00000308979.2_Silent_p.I10I			Q15399	TLR1_HUMAN	toll-like receptor 1			28					TTAACATGAAGATAATGGCAA	0.343000													GBM(5;216 373 40795 46382)											0							SO:0001819	synonymous_variant			ENST00000502213.2	1	1	hg19	CCDS33973.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3	1	0	0	14	146	0	50	0	3.403922e-01	0	13	0	50	2		0	0	0	0	0	2	1	9.997988e-01	14	146	0	50	2								-7.162592	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.610000	1.000000	1.000000	0.931443	0.990000	1	8.100000e-01	1
TLR6	10333	broad.mit.edu	37	4	38829804	38829804	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38829804C>A	ENST00000381950.1	-	1	1356	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	TLR6_ENST00000436693.2_Missense_Mutation_p.V431L			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6			22					TTTAACACCACTATACTCTCA	0.373000																								0							SO:0001583	missense			ENST00000381950.1	1	1	hg19	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	1.183	-0.637613	0.03557	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.52295	0.67;0.67	5.14	-0.74	0.11115	.	1.929330	0.02338	N	0.074593	T	0.27933	0.0688	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05954	-1.0854	10	0.11794	T	0.64	.	2.4207	0.04447	0.2402:0.4105:0.1997:0.1497	.	431	Q9Y2C9	TLR6_HUMAN	L	431	ENSP00000389600:V431L;ENSP00000371376:V431L	ENSP00000371376:V431L	V	-	1	0	TLR6	38506199	0.000000	0.05858	0.850000	0.33497	0.978000	0.69477	-0.572000	0.05881	-0.071000	0.12886	0.484000	0.47621	GTG		TCGA-IB-7651-01A-11D-2154-08	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1	1	0	1	131	573	0	131	0	2.366271e-01	0	5	0	131	2		0	0	0	0	0	2	1	1	127	565	0	131	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR19	57728	broad.mit.edu	37	4	39191347	39191347	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39191347T>G	ENST00000399820.3	+	4	390	c.236T>G	c.(235-237)aTt>aGt	p.I79S	WDR19_ENST00000288634.7_De_novo_Start_OutOfFrame|WDR19_ENST00000506503.1_Missense_Mutation_p.I79S	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19			1					TCTAGCTGCATTTATCTTTGG	0.358000																								0							SO:0001583	missense			ENST00000399820.3	1	0	hg19	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564276	0.86335	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	T;T;T	0.38560	3.0;1.13;3.0	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043861	0.85682	D	0.000000	T	0.67468	0.2896	M	0.85542	2.76	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64042	0.913;0.921	T	0.73335	-0.4015	10	0.87932	D	0	-21.0613	16.3939	0.83550	0.0:0.0:0.0:1.0	.	79;79	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	S	79;20;79;78	ENSP00000382717:I79S;ENSP00000426918:I20S;ENSP00000423491:I79S	ENSP00000382717:I79S	I	+	2	0	WDR19	38867742	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.670000	0.83925	2.276000	0.75962	0.455000	0.32223	ATT		TCGA-IB-7651-01A-11D-2154-08	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1	1	0	1	41	203	0	43	1	9.342895e-01	5	20	0	43	2		0	0	0	0	0	2	1	1	39	201	0	43	2								-19.997930	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
WDR19	57728	broad.mit.edu	37	4	39219675	39219675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39219675C>T	ENST00000399820.3	+	14	1583	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	WDR19_ENST00000506503.1_Silent_p.A475A|WDR19_ENST00000288634.7_Missense_Mutation_p.R317C	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19			1					TGATAAGTGCCGTATCTTATG	0.368000																								0							SO:0001583	missense			ENST00000399820.3	1	1	hg19	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350198	0.82132	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.96104	-3.91;-3.91	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050040	0.85682	D	0.000000	D	0.95884	0.8660	L	0.61036	1.89	0.58432	D	0.999994	D	0.71674	0.998	P	0.54924	0.764	D	0.95584	0.8649	10	0.59425	D	0.04	-16.209	12.9712	0.58513	0.2828:0.7172:0.0:0.0	.	477	Q8NEZ3	WDR19_HUMAN	C	477;317	ENSP00000382717:R477C;ENSP00000288634:R317C	ENSP00000288634:R317C	R	+	1	0	WDR19	38896070	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.823000	0.55715	2.600000	0.87896	0.491000	0.48974	CGT		TCGA-IB-7651-01A-11D-2154-08	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1	0	0	0	32	973	0	181	1	3.182497e-01	2	33	0	181	2		0	0	0	0	0	2	1	1	31	951	0	179	2								-2.273126	0	1	120860	1	33	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.380000	0.260000	1.000000	0.370000	0.420241	0.380000	0	3.100000e-01	4.700000e-01
RFC1	5981	broad.mit.edu	37	4	39291557	39291557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39291557C>A	ENST00000381897.1	-	24	3407	c.3274G>T	c.(3274-3276)Gat>Tat	p.D1092Y	RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa			16					TATTCCGAATCCAGGGATGGG	0.403000													Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											0							SO:0001583	missense			ENST00000381897.1	1	1	hg19	CCDS56329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.290121|2.290121	0.40494|0.40494	.|.	.|.	ENSG00000035928|ENSG00000035928	ENST00000381897;ENST00000349703|ENST00000514572	T;T|.	0.14144|.	2.53;2.53|.	5.83|5.83	3.8|3.8	0.43715|0.43715	.|.	0.392641|.	0.23591|.	N|.	0.046557|.	T|T	0.58836|0.58836	0.2150|0.2150	L|L	0.47716|0.47716	1.5|1.5	0.42668|0.42668	D|D	0.9935|0.9935	B;D|.	0.58620|.	0.074;0.983|.	B;P|.	0.61940|.	0.031;0.896|.	T|T	0.57087|0.57087	-0.7871|-0.7871	10|5	0.66056|.	D|.	0.02|.	-15.5032|-15.5032	11.9623|11.9623	0.53015|0.53015	0.0:0.7924:0.0:0.2076|0.0:0.7924:0.0:0.2076	.|.	1092;1091|.	P35251;P35251-2|.	RFC1_HUMAN;.|.	Y|V	1092;1091|68	ENSP00000371321:D1092Y;ENSP00000261424:D1091Y|.	ENSP00000261424:D1091Y|.	D|G	-|-	1|2	0|0	RFC1|RFC1	38967952|38967952	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.012000|0.012000	0.07955|0.07955	3.084000|3.084000	0.50143|0.50143	1.480000|1.480000	0.48289|0.48289	0.561000|0.561000	0.74099|0.74099	GAT|GGA		TCGA-IB-7651-01A-11D-2154-08	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	1	0	1	157	650	0	163	1	1	57	145	0	163	2		0	0	0	0	0	2	1	1	156	635	0	162	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFC1	5981	broad.mit.edu	37	4	39310294	39310294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39310294C>T	ENST00000381897.1	-	13	1980	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa			16					TTGCCAGTTTCGGAGCCAGCG	0.438000													Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											0							SO:0001583	missense			ENST00000381897.1	1	1	hg19	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071495	0.36566	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.17370	2.28;2.28	5.91	3.03	0.35002	.	0.309163	0.32416	N	0.006135	T	0.06735	0.0172	N	0.05199	-0.095	0.29184	N	0.876329	B;B	0.16802	0.005;0.019	B;B	0.14023	0.004;0.01	T	0.32640	-0.9899	10	0.15952	T	0.53	-2.8818	6.7029	0.23234	0.0:0.5824:0.0:0.4176	.	616;616	P35251;P35251-2	RFC1_HUMAN;.	Q	616	ENSP00000371321:R616Q;ENSP00000261424:R616Q	ENSP00000261424:R616Q	R	-	2	0	RFC1	38986689	0.208000	0.23494	0.998000	0.56505	0.976000	0.68499	0.502000	0.22594	0.706000	0.31912	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	1	0	1	165	761	0	154	1	1	44	80	0	154	2		0	0	0	0	0	2	1	1	162	739	0	153	2								-20.000000	1	0	121412	1	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFC1	5981	broad.mit.edu	37	4	39322915	39322915	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39322915G>A	ENST00000381897.1	-	8	933	c.800C>T	c.(799-801)cCt>cTt	p.P267L	RFC1_ENST00000349703.2_Missense_Mutation_p.P267L|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa			16					ACCTTTATGAGGATATTTATG	0.323000													Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											0							SO:0001583	missense			ENST00000381897.1	1	1	hg19	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059602	0.36373	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.53640	0.61;0.61	4.81	3.97	0.46021	.	0.901960	0.09779	N	0.756915	T	0.45597	0.1350	L	0.57536	1.79	0.38095	D	0.937084	B;B	0.15141	0.007;0.012	B;B	0.13407	0.003;0.009	T	0.35798	-0.9774	10	0.33940	T	0.23	-7.1936	11.0667	0.47979	0.1565:0.0:0.8435:0.0	.	267;267	P35251;P35251-2	RFC1_HUMAN;.	L	267	ENSP00000371321:P267L;ENSP00000261424:P267L	ENSP00000261424:P267L	P	-	2	0	RFC1	38999310	0.998000	0.40836	0.940000	0.37924	0.732000	0.41865	1.280000	0.33202	1.355000	0.45865	-0.127000	0.14921	CCT		TCGA-IB-7651-01A-11D-2154-08	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	1	0	1	41	243	0	53	1	9.999787e-01	32	67	0	53	2		0	0	0	0	0	2	1	1	41	242	0	52	2								-2.694293	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
KLB	152831	broad.mit.edu	37	4	39436299	39436299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39436299C>T	ENST00000257408.4	+	2	1392	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta			29					GACACCACGGCCATCTACATG	0.398000																								0							SO:0001583	missense			ENST00000257408.4	0	1	hg19	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585018	0.46110	.	.	ENSG00000134962	ENST00000257408	T	0.29397	1.57	6.06	5.22	0.72569	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159988	0.56097	D	0.000034	T	0.26991	0.0661	L	0.57536	1.79	0.36098	D	0.843949	P;P	0.39809	0.689;0.689	B;B	0.34093	0.175;0.175	T	0.37820	-0.9689	10	0.44086	T	0.13	-16.2588	9.5577	0.39348	0.0:0.792:0.0:0.208	.	432;432	B7ZL50;Q86Z14	.;KLOTB_HUMAN	V	432	ENSP00000257408:A432V	ENSP00000257408:A432V	A	+	2	0	KLB	39112694	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.254000	0.51477	1.575000	0.49775	-0.136000	0.14681	GCC		TCGA-IB-7651-01A-11D-2154-08	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	0	0	0	9	395	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	9.937957e-01	9	387	0	74	2								-8.506247	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.280000	0.130000	1.000000	0.260000	0.327790	0.280000	0	1.900000e-01	4.000000e-01
KLB	152831	broad.mit.edu	37	4	39448080	39448080	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39448080T>G	ENST00000257408.4	+	4	1831	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta			29					AATGCACAGATTTTGTAAACA	0.512000																								0							SO:0001583	missense			ENST00000257408.4	1	1	hg19	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984487	0.74474	.	.	ENSG00000134962	ENST00000257408	T	0.29142	1.58	5.68	-0.762	0.11034	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045170	0.85682	D	0.000000	T	0.38401	0.1039	L	0.53617	1.68	0.35765	D	0.820461	D;D	0.56746	0.977;0.977	P;P	0.57283	0.817;0.817	T	0.44050	-0.9353	10	0.42905	T	0.14	-24.6571	10.2208	0.43196	0.0:0.4305:0.0:0.5695	.	569;578	B7ZL50;Q86Z14	.;KLOTB_HUMAN	E	578	ENSP00000257408:D578E	ENSP00000257408:D578E	D	+	3	2	KLB	39124475	0.964000	0.33143	0.915000	0.36163	0.850000	0.48378	0.088000	0.14979	-0.100000	0.12241	0.397000	0.26171	GAT		TCGA-IB-7651-01A-11D-2154-08	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	1	0	1	67	309	0	71	0	3.275118e-02	1	1	0	71	2		0	0	0	0	0	2	1	1	66	306	0	71	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGDH	7358	broad.mit.edu	37	4	39523021	39523021	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39523021T>C	ENST00000316423.6	-	2	454	c.112A>G	c.(112-114)Aat>Gat	p.N38D	UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.N38D|UGDH_ENST00000501493.2_Missense_Mutation_p.N38D|UGDH_ENST00000515398.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase			27					CTTGATTCATTGACATCAACA	0.378000																								0							SO:0001583	missense			ENST00000316423.6	1	1	hg19	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639124	0.67244	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	6.07	6.07	0.98685	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.11284	0.12	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.15052	0.012;0.003	T	0.57894	-0.7732	10	0.25106	T	0.35	-3.6669	15.8218	0.78654	0.0:0.0:0.0:1.0	.	38;38	B3KUU2;O60701	.;UGDH_HUMAN	D	38;38;38;51;38;38;38;38	ENSP00000319501:N38D;ENSP00000422909:N38D;ENSP00000421757:N38D;ENSP00000421954:N51D;ENSP00000425834:N38D;ENSP00000422603:N38D;ENSP00000422565:N38D;ENSP00000427708:N38D	ENSP00000319501:N38D	N	-	1	0	UGDH	39199416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.326000	0.78906	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	1	0	1	98	404	0	84	1	1	27	74	0	84	2		0	0	0	0	0	2	1	1	97	403	0	83	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDS5A	23244	broad.mit.edu	37	4	39839590	39839590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39839590G>A	ENST00000303538.8	-	32	4435	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)			39					ACCCACTGCAGCTCTCTTCCT	0.483000																								0							SO:0001583	missense			ENST00000303538.8	1	1	hg19	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705450	0.48412	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.31	3.52	0.40303	.	0.116081	0.56097	D	0.000023	T	0.40067	0.1102	N	0.24115	0.695	0.80722	D	1	P	0.44816	0.844	B	0.44278	0.445	T	0.08289	-1.0729	8	.	.	.	0.0019	10.4171	0.44329	0.073:0.135:0.792:0.0	.	1299	Q29RF7	PDS5A_HUMAN	V	1299	.	.	A	-	2	0	PDS5A	39515985	0.998000	0.40836	0.426000	0.26672	0.005000	0.04900	2.952000	0.49097	0.567000	0.29293	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	1	0	1	47	174	0	60	1	1	50	151	0	60	2		0	0	0	0	0	2	1	1	46	168	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDS5A	23244	broad.mit.edu	37	4	39910118	39910118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39910118C>T	ENST00000303538.8	-	11	1669	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	PDS5A_ENST00000503396.1_Missense_Mutation_p.R377H	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)			39					GACATCATGACGAATAGCTTC	0.348000																								0							SO:0001583	missense			ENST00000303538.8	1	0	hg19	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228229	0.95173	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.76060	-0.99;-0.99	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87701	0.2560	9	.	.	.	-8.9492	18.3555	0.90356	0.0:1.0:0.0:0.0	.	377;377	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	H	377	ENSP00000303427:R377H;ENSP00000426749:R377H	.	R	-	2	0	PDS5A	39586513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	2.342000	0.79632	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	1	0	0	101	392	0	86	1	1	28	105	0	86	2		0	0	0	0	0	2	1	1	101	386	0	84	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
N4BP2	55728	broad.mit.edu	37	4	40103869	40103869	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40103869A>G	ENST00000261435.6	+	4	820	c.404A>G	c.(403-405)gAc>gGc	p.D135G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2			60					TCATTTTTGGACATGCAGCTA	0.373000																								0							SO:0001583	missense			ENST00000261435.6	1	1	hg19	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541654	0.65085	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80304	-1.36;-1.36	6.08	6.08	0.98989	.	0.549948	0.19174	N	0.120868	T	0.73450	0.3588	L	0.32530	0.975	0.29809	N	0.831763	B;B	0.27997	0.197;0.125	B;B	0.32533	0.147;0.07	T	0.72656	-0.4227	10	0.66056	D	0.02	-8.8579	10.3186	0.43751	0.9245:0.0:0.0755:0.0	.	135;135	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	135;55;55	ENSP00000261435:D135G;ENSP00000422057:D55G	ENSP00000261435:D135G	D	+	2	0	N4BP2	39780264	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	3.636000	0.54317	2.333000	0.79357	0.482000	0.46254	GAC		TCGA-IB-7651-01A-11D-2154-08	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	0	0	1	103	460	1	130	1	6.261161e-01	4	7	1	130	2		0	0	0	0	0	2	1	1	99	455	1	130	15								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
N4BP2	55728	broad.mit.edu	37	4	40104536	40104536	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40104536G>A	ENST00000261435.6	+	4	1487	c.1071G>A	c.(1069-1071)ccG>ccA	p.P357P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2			60					TGCCTCCTCCGCCACCTCCAC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000261435.6	1	1	hg19	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.602319	0.00849	.	.	ENSG00000078177	ENST00000513269	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09618	-1.0666	4	.	.	.	-2.5964	0.9054	0.01283	0.2678:0.2321:0.2979:0.2023	.	.	.	.	T	4	.	.	A	+	1	0	N4BP2	39780931	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-1.413000	0.02473	-1.582000	0.01640	-1.303000	0.01326	GCC		TCGA-IB-7651-01A-11D-2154-08	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	1	95	404	0	97	0	8.074135e-01	1	14	0	97	2		0	0	0	0	0	2	1	1	92	385	0	95	2								-3.128026	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
N4BP2	55728	broad.mit.edu	37	4	40122325	40122325	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122325G>T	ENST00000261435.6	+	9	3010	c.2594G>T	c.(2593-2595)aGc>aTc	p.S865I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2			60					CCACTCAATAGCTATAAATAT	0.398000																								0							SO:0001583	missense			ENST00000261435.6	1	1	hg19	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.638|8.638	0.895275|0.895275	0.17613|0.17613	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19806|.	2.12|.	5.64|5.64	0.519|0.519	0.17035|0.17035	.|.	0.874397|.	0.10375|.	N|.	0.682311|.	T|.	0.36936|.	0.0985|.	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	P;B|.	0.37207|.	0.587;0.451|.	B;B|.	0.36464|.	0.225;0.112|.	T|.	0.32052|.	-0.9921|.	10|.	0.62326|.	D|.	0.03|.	-1.8524|-1.8524	2.9096|2.9096	0.05732|0.05732	0.1304:0.3175:0.3411:0.211|0.1304:0.3175:0.3411:0.211	.|.	865;865|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	865;785|511	ENSP00000261435:S865I|.	ENSP00000261435:S865I|.	S|X	+|+	2|3	0|2	N4BP2|N4BP2	39798720|39798720	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	-0.085000|-0.085000	0.11250|0.11250	0.037000|0.037000	0.15575|0.15575	0.561000|0.561000	0.74099|0.74099	AGC|TAG		TCGA-IB-7651-01A-11D-2154-08	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	1	39	201	0	40	0	3.263605e-01	1	6	0	40	2		0	0	0	0	0	2	1	9.985143e-01	39	192	1	40	18								-19.942030	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
N4BP2	55728	broad.mit.edu	37	4	40122738	40122738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122738C>T	ENST00000261435.6	+	9	3423	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2			60					AGAGCAAATGCCTAAGAGAGA	0.408000																								0							SO:0001583	missense			ENST00000261435.6	1	1	hg19	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.015|0.015	-1.566015|-1.566015	0.00903|0.00903	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.19105	.|2.17	6.02|6.02	-3.81|-3.81	0.04294|0.04294	.|.	.|1.432000	.|0.03800	.|N	.|0.264223	T|T	0.11153|0.11153	0.0272|0.0272	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.11235	.|0.004;0.003	.|B;B	.|0.12156	.|0.007;0.003	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.18276	.|T	.|0.48	0.3197|0.3197	1.666|1.666	0.02802|0.02802	0.2159:0.2675:0.099:0.4175|0.2159:0.2675:0.099:0.4175	.|.	.|1003;1003	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	V|S	649|1003;923	.|ENSP00000261435:P1003S	.|ENSP00000261435:P1003S	A|P	+|+	2|1	0|0	N4BP2|N4BP2	39799133|39799133	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.930000|-0.930000	0.03972|0.03972	-1.381000|-1.381000	0.02112|0.02112	-0.140000|-0.140000	0.14226|0.14226	GCC|CCT		TCGA-IB-7651-01A-11D-2154-08	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	0	29	311	0	56	1	2.511755e-01	2	9	0	56	2		0	0	0	0	0	2	1	1	29	308	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.944169	0.990000	1	8.400000e-01	1
N4BP2	55728	broad.mit.edu	37	4	40138628	40138628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40138628G>A	ENST00000261435.6	+	14	5127	c.4711G>A	c.(4711-4713)Gtt>Att	p.V1571I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2			60					TGTAAAAACAGTTGTAGCCCA	0.338000																								0							SO:0001583	missense			ENST00000261435.6	1	1	hg19	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.676723|4.676723	0.88445|0.88445	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.22134	.|1.97	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.069343	.|0.56097	.|D	.|0.000029	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.32530|0.32530	0.975|0.975	0.48341|0.48341	D|D	0.999636|0.999636	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.80764	.|0.994;0.987	T|T	0.03025|0.03025	-1.1081|-1.1081	5|10	.|0.39692	.|T	.|0.17	-14.4961|-14.4961	17.3733|17.3733	0.87384|0.87384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1571;1571	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	N|I	1217|1571;1491	.|ENSP00000261435:V1571I	.|ENSP00000261435:V1571I	S|V	+|+	2|1	0|0	N4BP2|N4BP2	39815023|39815023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.671000|7.671000	0.83941|0.83941	2.524000|2.524000	0.85096|0.85096	0.563000|0.563000	0.77884|0.77884	AGT|GTT		TCGA-IB-7651-01A-11D-2154-08	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	0	40	226	0	48	0	6.479648e-01	0	14	0	48	2		0	0	0	0	0	2	1	1	40	223	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
N4BP2	55728	broad.mit.edu	37	4	40154517	40154517	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40154517G>T	ENST00000261435.6	+	17	5677	c.5261G>T	c.(5260-5262)aGc>aTc	p.S1754I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2			60					ATAAGCCATAGCTTCAGGTGA	0.408000																								0							SO:0001583	missense			ENST00000261435.6	1	1	hg19	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.611447|3.611447	0.66558|0.66558	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18810|.	2.19|.	5.83|5.83	0.364|0.364	0.16124|0.16124	Smr protein/MutS2 C-terminal (2);|.	0.428284|.	0.26359|.	N|.	0.024835|.	T|.	0.34513|.	0.0900|.	L|L	0.33137|0.33137	0.985|0.985	0.29688|0.29688	N|N	0.84114|0.84114	P;P|.	0.47409|.	0.872;0.895|.	P;P|.	0.57425|.	0.726;0.82|.	T|.	0.35674|.	-0.9779|.	10|.	0.72032|.	D|.	0.01|.	-0.0705|-0.0705	10.509|10.509	0.44851|0.44851	0.5059:0.0:0.4941:0.0|0.5059:0.0:0.4941:0.0	.|.	1737;1754|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	I|Y	1754;1674|1383	ENSP00000261435:S1754I|.	ENSP00000261435:S1754I|.	S|X	+|+	2|3	0|2	N4BP2|N4BP2	39830912|39830912	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.982000|0.982000	0.71751|0.71751	1.585000|1.585000	0.36600|0.36600	0.078000|0.078000	0.16900|0.16900	0.655000|0.655000	0.94253|0.94253	AGC|TAG		TCGA-IB-7651-01A-11D-2154-08	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	1	0	1	47	240	0	48	1	6.556029e-01	2	11	0	48	2		0	0	0	0	0	2	1	1	46	235	0	48	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOH	399	broad.mit.edu	37	4	40245060	40245060	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245060C>A	ENST00000381799.5	+	3	778	c.54C>A	c.(52-54)acC>acA	p.T18T	RHOH_ENST00000505618.1_Silent_p.T18T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H			12					TGGGGAAAACCTCTCTGTTGG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000381799.5	1	1	hg19	CCDS3458.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	1	0	1	58	278	0	77	0	9.848479e-01	0	34	0	77	2		0	0	0	0	0	2	1	1	58	271	0	77	2								-3.273170	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOH	399	broad.mit.edu	37	4	40245403	40245403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245403G>T	ENST00000381799.5	+	3	1121	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H			12					CTGCGTCAATGCCATGGAAGG	0.602000																								0							SO:0001583	missense			ENST00000381799.5	1	1	hg19	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	4.166	0.029282	0.08054	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.76839	-1.05;-1.05	5.92	4.0	0.46444	Small GTP-binding protein domain (1);	0.326387	0.33346	N	0.005007	T	0.54565	0.1866	N	0.05230	-0.09	0.28632	N	0.907628	B	0.02656	0.0	B	0.08055	0.003	T	0.44498	-0.9324	10	0.33940	T	0.23	.	8.8676	0.35296	0.0:0.2369:0.4532:0.3098	.	133	Q15669	RHOH_HUMAN	S	133	ENSP00000425010:A133S;ENSP00000371219:A133S	ENSP00000371219:A133S	A	+	1	0	RHOH	39921798	0.604000	0.26932	0.978000	0.43139	0.164000	0.22412	-0.014000	0.12656	2.810000	0.96702	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	1	0	1	53	276	0	63	0	9.901912e-01	0	40	0	63	2		0	0	0	0	0	2	1	1	52	271	0	61	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNA9	55584	broad.mit.edu	37	4	40351187	40351187	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351187C>T	ENST00000310169.2	+	4	793	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)			33				Galantamine(DB00674)|Nicotine(DB00184)	TCTCCTATGGCTGCTGCTCTG	0.512000													Esophageal Squamous(115;1297 1602 22235 25158 43327)											0							SO:0001819	synonymous_variant			ENST00000310169.2	1	1	hg19	CCDS3459.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1	1	0	1	280	1285	0	316	0	3.216865e-02	0	2	0	316	2		0	0	0	0	0	2	1	1	277	1251	0	311	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNA9	55584	broad.mit.edu	37	4	40351281	40351281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351281C>T	ENST00000310169.2	+	4	887	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)			33				Galantamine(DB00674)|Nicotine(DB00184)	CCCATGCGTCCTCATATCTTT	0.517000													Esophageal Squamous(115;1297 1602 22235 25158 43327)											0							SO:0001583	missense			ENST00000310169.2	1	0	hg19	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425570	0.62733	.	.	ENSG00000174343	ENST00000310169	D	0.91464	-2.85	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.056571	0.64402	D	0.000001	D	0.93900	0.8048	M	0.76838	2.35	0.54753	D	0.999988	D	0.63046	0.992	D	0.73380	0.98	D	0.92735	0.6203	10	0.40728	T	0.16	.	8.2977	0.31995	0.1566:0.7597:0.0:0.0836	.	250	Q9UGM1	ACHA9_HUMAN	F	250	ENSP00000312663:L250F	ENSP00000312663:L250F	L	+	1	0	CHRNA9	40046038	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.650000	0.46665	2.627000	0.88993	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1	1	0	1	406	1935	0	491		0	0	0	0	491	2		0	0	0	0	0	2	1	1	402	1908	1	485	17								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM47	54502	broad.mit.edu	37	4	40440179	40440179	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440179G>A	ENST00000381793.2	-	3	1128	c.732C>T	c.(730-732)acC>acT	p.T244T	RBM47_ENST00000514014.1_Silent_p.T206T|RBM47_ENST00000319592.4_Silent_p.T244T|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.T244T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47			29					GGATCTTCACGGTCTCCATCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000381793.2	1	1	hg19	CCDS43223.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	1	0	1	115	505	0	116	1	1	35	86	0	116	2		0	0	0	0	0	2	1	1	116	498	0	115	2								-2.783008	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM47	54502	broad.mit.edu	37	4	40440380	40440380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440380G>A	ENST00000381793.2	-	3	927	c.531C>T	c.(529-531)ggC>ggT	p.G177G	RBM47_ENST00000514014.1_Silent_p.G139G|RBM47_ENST00000319592.4_Silent_p.G177G|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.G177G			A0AV96	RBM47_HUMAN	RNA binding motif protein 47			29					CGTCCAGCACGCCCTCGGTGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000381793.2	1	1	hg19	CCDS43223.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	1	0	0	34	636	0	124	1	9.066031e-01	7	70	0	124	2		0	0	0	0	0	2	1	1	34	629	0	124	2								-3.075842	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.600000	0.420000	1.000000	0.600000	0.633671	0.600000	0	5.100000e-01	7.400000e-01
RBM47	54502	broad.mit.edu	37	4	40440520	40440520	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440520G>T	ENST00000381793.2	-	3	787	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	RBM47_ENST00000514014.1_Missense_Mutation_p.L93I|RBM47_ENST00000319592.4_Missense_Mutation_p.L131I|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47			29					TAGTTGTTGAGCTCACGCACT	0.627000																								0							SO:0001583	missense			ENST00000381793.2	1	1	hg19	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219834	0.79464	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.57436	1.75;0.4;1.75;0.4;0.4;1.75;0.4;0.4;0.4	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.65975	2.015	0.80722	D	1	D;P	0.61697	0.99;0.933	D;D	0.72982	0.979;0.928	T	0.73414	-0.3990	10	0.59425	D	0.04	-25.2838	19.2511	0.93926	0.0:0.0:1.0:0.0	.	131;131	A0AV96-2;A0AV96	.;RBM47_HUMAN	I	131;131;131;131;93;131;131;131;131	ENSP00000320108:L131I;ENSP00000371212:L131I;ENSP00000371214:L131I;ENSP00000295971:L131I;ENSP00000423243:L93I;ENSP00000422564:L131I;ENSP00000421589:L131I;ENSP00000423527:L131I;ENSP00000426542:L131I	ENSP00000295971:L131I	L	-	1	0	RBM47	40135277	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.888000	0.87302	2.554000	0.86153	0.313000	0.20887	CTC		TCGA-IB-7651-01A-11D-2154-08	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	1	0	0	25	344	0	63	1	9.851757e-01	17	78	0	63	2		0	0	0	0	0	2	1	9.999998e-01	24	343	0	63	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.810000	0.540000	1.000000	1.000000	0.818386	0.810000	0	6.600000e-01	1
RBM47	54502	broad.mit.edu	37	4	40440526	40440526	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440526G>A	ENST00000381793.2	-	3	781	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RBM47_ENST00000514014.1_Missense_Mutation_p.R91C|RBM47_ENST00000319592.4_Missense_Mutation_p.R129C|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47			29					TTGAGCTCACGCACTGCGCGC	0.627000																								0							SO:0001583	missense			ENST00000381793.2	1	1	hg19	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026464	0.54683	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.44	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.62723	1.935	0.80722	D	1	D;B	0.89917	1.0;0.024	D;B	0.63703	0.917;0.075	T	0.06534	-1.0821	10	0.87932	D	0	-17.4793	13.1056	0.59246	0.0:0.0:0.6489:0.3511	.	129;129	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	129;129;129;129;91;129;129;129;129	ENSP00000320108:R129C;ENSP00000371212:R129C;ENSP00000371214:R129C;ENSP00000295971:R129C;ENSP00000423243:R91C;ENSP00000422564:R129C;ENSP00000421589:R129C;ENSP00000423527:R129C;ENSP00000426542:R129C	ENSP00000295971:R129C	R	-	1	0	RBM47	40135283	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.959000	0.56744	2.554000	0.86153	0.313000	0.20887	CGT		TCGA-IB-7651-01A-11D-2154-08	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	1	0	1	64	313	0	64	1	9.999978e-01	38	57	0	64	2		0	0	0	0	0	2	1	1	63	311	0	64	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NSUN7	79730	broad.mit.edu	37	4	40776811	40776811	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776811G>T	ENST00000381782.2	+	6	1164	c.669G>T	c.(667-669)aaG>aaT	p.K223N	NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7			12					ATAATTTGAAGAGAAGAGGCT	0.289000																								0							SO:0001583	missense			ENST00000381782.2	1	1	hg19	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890198	0.52014	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.09911	2.93;2.93	5.27	4.43	0.53597	.	0.255535	0.43416	D	0.000572	T	0.16769	0.0403	L	0.58810	1.83	0.37223	D	0.905312	P;B;P	0.44946	0.846;0.404;0.842	B;B;P	0.45971	0.372;0.376;0.499	T	0.07233	-1.0783	10	0.41790	T	0.15	-11.7078	13.5116	0.61515	0.0758:0.0:0.9242:0.0	.	223;223;223	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	N	223	ENSP00000371201:K223N;ENSP00000319127:K223N	ENSP00000319127:K223N	K	+	3	2	NSUN7	40471568	1.000000	0.71417	0.822000	0.32727	0.942000	0.58702	2.565000	0.45939	1.351000	0.45789	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	1	0	0	27	354	0	85	0	8.922434e-02	0	7	0	85	2		0	0	0	0	0	2	1	1	26	351	0	85	2								-2.966596	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.850000	0.570000	1.000000	1.000000	0.847085	0.850000	1	7.000000e-01	1
NSUN7	79730	broad.mit.edu	37	4	40776916	40776916	+	Silent	SNP	A	A	G	rs145033684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776916A>G	ENST00000381782.2	+	6	1269	c.774A>G	c.(772-774)aaA>aaG	p.K258K	NSUN7_ENST00000316607.5_Silent_p.K258K|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7			12					CTCATCTTAAAAATGATCTTA	0.284000																								0							SO:0001819	synonymous_variant			ENST00000381782.2	1	1	hg19	CCDS3461.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	1	0	0	36	145	0	40	1	1.065919e-01	2	1	0	40	2		0	0	0	0	0	2	1	1	34	141	0	40	2								-3.607153	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APBB2	323	broad.mit.edu	37	4	40832536	40832536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40832536G>A	ENST00000295974.8	-	13	2214	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2			34					GTGTCACATCGAAATACATGA	0.433000													Ovarian(3;20 75 16686 49997)											0							SO:0001587	stop_gained			ENST00000295974.8	0	1	hg19	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.202208|12.202208	0.99646|0.99646	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000512510|ENST00000513611	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.124247|.	0.56097|.	D|.	0.000027|.	.|T	.|0.75102	.|0.3804	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73493	.|-0.3965	.|4	0.02654|.	T|.	1|.	-7.3436|-7.3436	19.2746|19.2746	0.94026|0.94026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	529;528;508;530;508;43|498	.|.	ENSP00000295974:R529X|.	R|S	-|-	1|2	2|0	APBB2|APBB2	40527293|40527293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.565000|2.565000	0.86533|0.86533	0.491000|0.491000	0.48974|0.48974	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	1	0	0	57	331	0	69	0	9.993103e-01	1	64	0	69	2		0	0	0	0	0	2	1	1	55	322	0	69	2								-20.000000	1	1	120864	1	28	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PHOX2B	8929	broad.mit.edu	37	4	41749444	41749444	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:41749444G>A	ENST00000226382.2	-	2	710	c.351C>T	c.(349-351)ttC>ttT	p.F117F	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b			30					GAGTCTCCGCGAAGACCCTTT	0.622000			Mis, F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	0							SO:0001819	synonymous_variant	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	ENST00000226382.2	1	1	hg19	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	3.506	-0.100723	0.06967	.	.	ENSG00000109132	ENST00000510424	.	.	.	5.4	3.64	0.41730	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57423	-0.7814	4	.	.	.	.	9.8978	0.41329	0.2116:0.0:0.7884:0.0	.	.	.	.	L	57	.	.	S	-	2	0	PHOX2B	41444201	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.949000	0.29109	1.503000	0.48686	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2	0	0	1	76	453	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	74	448	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OTOP1	133060	broad.mit.edu	37	4	4228393	4228393	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4228393G>A	ENST00000296358.4	-	1	223	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1			34					AACACGATCAGCCCATACTGG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000296358.4	0	1	hg19	CCDS3372.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	0	0	0	5	98	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	7.789820e-01	4	53	0	5	2								-8.867477	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.620000	0.240000	1.000000	1.000000	0.651023	0.620000	0	4.000000e-01	9.700000e-01
SHISA3	152573	broad.mit.edu	37	4	42403028	42403028	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403028G>T	ENST00000319234.4	+	2	495		c.e2-1			NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3			12					TTGCCTTTTAGAGCCTGTCTA	0.488000																								0							SO:0001630	splice_region_variant			ENST00000319234.4	1	1	hg19	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980950	0.74474	.	.	ENSG00000178343	ENST00000319234	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9622	0.89089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHISA3	42097785	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.657000	0.98554	2.582000	0.87167	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	1	0	1	143	641	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	143	622	0	118	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHISA3	152573	broad.mit.edu	37	4	42403101	42403101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403101C>T	ENST00000319234.4	+	2	568	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3			12					TCTGTAGTGGCTATTTATTGT	0.512000																								0							SO:0001583	missense			ENST00000319234.4	1	1	hg19	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451952	0.84209	.	.	ENSG00000178343	ENST00000319234	T	0.39997	1.05	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.67662	-0.5613	10	0.52906	T	0.07	-5.562	17.9622	0.89089	0.0:1.0:0.0:0.0	.	117	A0PJX4	SHSA3_HUMAN	V	117	ENSP00000326445:A117V	ENSP00000326445:A117V	A	+	2	0	SHISA3	42097858	1.000000	0.71417	0.958000	0.39756	0.399000	0.30720	7.651000	0.83577	2.582000	0.87167	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	1	0	1	297	1182	0	258	0	0	0	1	0	258	2		0	0	0	0	0	2	1	1	291	1155	0	257	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP8A1	10396	broad.mit.edu	37	4	42416721	42416721	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42416721G>A	ENST00000381668.5	-	36	3551	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	p.A1107V(1)|p.A1092V(1)		51				Phosphatidylserine(DB00144)	GAGCAGTTGCGCCCTCTCGGT	0.473000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000381668.5	1	1	hg19	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684706	0.68157	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.61859	0.07;0.07	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.73217	2.22	0.80722	D	1	B;B;P	0.36222	0.181;0.343;0.544	B;B;B	0.21360	0.011;0.034;0.034	T	0.57728	-0.7761	10	0.33940	T	0.23	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1092;1107;1099	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	1107;1092	ENSP00000371084:A1107V;ENSP00000264449:A1092V	ENSP00000264449:A1092V	A	-	2	0	ATP8A1	42111478	1.000000	0.71417	0.985000	0.45067	0.927000	0.56198	8.766000	0.91728	2.636000	0.89361	0.557000	0.71058	GCG		TCGA-IB-7651-01A-11D-2154-08	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	1	88	375	0	85	0	7.731038e-01	0	14	0	85	2		0	0	0	0	0	2	1	1	85	364	0	83	2								-3.481196	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM128	85013	broad.mit.edu	37	4	4242094	4242094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4242094C>T	ENST00000382753.4	-	3	361	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TMEM128_ENST00000254742.2_Missense_Mutation_p.A94T|TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T			Q5BJH2	TM128_HUMAN	transmembrane protein 128			2					GGTATCAAGGCTGGATACTTG	0.368000																								0							SO:0001583	missense			ENST00000382753.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	7.626	0.677821	0.14841	.	.	ENSG00000132406	ENST00000254742;ENST00000382753;ENST00000538516;ENST00000540397	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.48	-10.3	0.00346	.	0.847211	0.10602	N	0.655600	T	0.55816	0.1944	N	0.05351	-0.065	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.003;0.001	B;B;B;B	0.11329	0.006;0.006;0.004;0.004	T	0.45234	-0.9275	10	0.22706	T	0.39	-0.0782	13.3231	0.60444	0.1752:0.7316:0.0:0.0933	.	118;118;118;94	B7Z3K1;Q5BJH2;D3DVS1;Q5BJH2-2	.;TM128_HUMAN;.;.	T	94;118;118;118	ENSP00000254742:A94T;ENSP00000372201:A118T;ENSP00000442300:A118T;ENSP00000439174:A118T	ENSP00000254742:A94T	A	-	1	0	TMEM128	4292995	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.607000	0.05648	-2.754000	0.00373	-0.156000	0.13503	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	1	0	1	27	142	0	23	1	1	30	129	0	23	2		0	0	0	0	0	2	1	1	27	140	0	23	2								-15.577960	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
ATP8A1	10396	broad.mit.edu	37	4	42581869	42581869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42581869G>A	ENST00000381668.5	-	11	1192	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1			51				Phosphatidylserine(DB00144)	GAATGCCTTCGATTCCAAATG	0.343000																								0							SO:0001587	stop_gained			ENST00000381668.5	0	1	hg19	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	39	7.732964	0.98459	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.86	5.02	0.67125	.	0.232071	0.39083	N	0.001465	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	10.6965	0.45903	0.0681:0.1329:0.799:0.0	.	.	.	.	X	321	.	ENSP00000264449:R321X	R	-	1	2	ATP8A1	42276626	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.511000	0.45476	1.604000	0.50143	-0.182000	0.12963	CGA		TCGA-IB-7651-01A-11D-2154-08	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	1	49	201	0	56	0	7.547849e-01	0	13	0	56	2		0	0	0	0	0	2	1	1	48	197	0	56	2								-3.412123	1	1	121412	1	26	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP8A1	10396	broad.mit.edu	37	4	42626570	42626570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42626570C>A	ENST00000381668.5	-	4	577	c.346G>T	c.(346-348)Gag>Tag	p.E116*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1			51				Phosphatidylserine(DB00144)	TCTATTATCTCTTTGATAGCT	0.264000																								0							SO:0001587	stop_gained			ENST00000381668.5	0	1	hg19	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	38	6.813806	0.97857	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8683	0.96840	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000264449:E116X	E	-	1	0	ATP8A1	42321327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.346000	0.79347	2.753000	0.94483	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	1	19	174	0	42	0	1.584628e-01	0	7	0	42	2		0	0	0	0	0	2	1	9.999915e-01	18	171	0	42	2								-3.318834	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.740000	1.000000	1.000000	0.972139	0.990000	1	9.400000e-01	1
GRXCR1	389207	broad.mit.edu	37	4	42895651	42895651	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42895651T>C	ENST00000399770.2	+	1	368	c.368T>C	c.(367-369)tTg>tCg	p.L123S	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1			32					TTTAACAATTTGACCAAAGTA	0.418000																								0							SO:0001583	missense			ENST00000399770.2	1	1	hg19	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.111100	0.56398	.	.	ENSG00000215203	ENST00000399770	T	0.21191	2.02	5.87	5.87	0.94306	.	0.000000	0.56097	U	0.000023	T	0.42108	0.1188	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.09796	-1.0658	10	0.38643	T	0.18	-9.0137	15.4474	0.75240	0.0:0.0:0.0:1.0	.	123	A8MXD5	GRCR1_HUMAN	S	123	ENSP00000382670:L123S	ENSP00000382670:L123S	L	+	2	0	GRXCR1	42590408	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.693000	0.84214	2.247000	0.74100	0.528000	0.53228	TTG		TCGA-IB-7651-01A-11D-2154-08	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	1	0	1	127	546	0	141		0	0	0	0	141	2		0	0	0	0	0	2	1	1	125	531	0	140	2								-20.000000	1	1	120898	1	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STX18	53407	broad.mit.edu	37	4	4421790	4421790	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4421790A>G	ENST00000306200.2	-	11	1042	c.979T>C	c.(979-981)Ttg>Ctg	p.L327L	STX18_ENST00000505286.1_Intron	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18			5					AGGAAGAGCAAGGAGAAGGAG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000306200.2	0	1	hg19	CCDS3377.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1	1	0	1	12	100	0	12	1	9.999996e-01	104	191	0	12	2		0	0	0	0	0	2	1	9.992524e-01	12	99	0	11	2								-19.004680	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.710000	1.000000	1.000000	0.972951	0.990000	1	9.600000e-01	1
KCTD8	386617	broad.mit.edu	37	4	44449580	44449580	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44449580G>A	ENST00000360029.3	-	1	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8			41					GCGAACTTACGGAAGAAAATG	0.662000										HNSCC(17;0.042)														0							SO:0001630	splice_region_variant			ENST00000360029.3	0	1	hg19	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	40	8.116172	0.98662	.	.	ENSG00000183783	ENST00000360029	.	.	.	4.27	3.33	0.38152	.	0.146450	0.42682	D	0.000664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2831	0.37740	0.0:0.0:0.6078:0.3922	.	.	.	.	X	321	.	.	R	-	1	2	KCTD8	44144337	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.944000	0.40263	2.214000	0.71695	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1	0	0	0	20	84	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.999970e-01	19	82	0	15	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
GUF1	60558	broad.mit.edu	37	4	44691943	44691943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44691943C>T	ENST00000281543.5	+	11	1480	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)			19					ATTTTAACAACCCCTACTGTT	0.378000																								0							SO:0001583	missense			ENST00000281543.5	1	1	hg19	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255489	0.59321	.	.	ENSG00000151806	ENST00000281543	T	0.69175	-0.38	5.76	5.76	0.90799	Elongation factor G/III/V (1);	0.159713	0.56097	D	0.000023	T	0.53367	0.1792	N	0.24115	0.695	0.37388	D	0.912331	P	0.36222	0.544	B	0.26517	0.07	T	0.63462	-0.6632	10	0.87932	D	0	-11.5246	19.3309	0.94288	0.0:1.0:0.0:0.0	.	429	Q8N442	GUF1_HUMAN	I	429	ENSP00000281543:T429I	ENSP00000281543:T429I	T	+	2	0	GUF1	44386700	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.649000	0.67936	2.880000	0.98712	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	1	0	1	63	329	0	69	1	9.998354e-01	24	45	0	69	2		0	0	0	0	0	2	1	1	63	327	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRA2	2555	broad.mit.edu	37	4	46252622	46252622	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46252622C>A	ENST00000510861.1	-	10	1233		c.e10-1		GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2			56				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTCTTTTTTCTATTGAAAAA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000510861.1	1	1	hg19	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776042	0.70107	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRA2	45947379	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.647000	0.46639	2.827000	0.97445	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2	1	0	0	58	298	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	58	287	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRA4	2557	broad.mit.edu	37	4	46930768	46930768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930768G>A	ENST00000264318.3	-	9	2121	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4			45				Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGGCATTTGTATTCTGAAA	0.308000													Ovarian(6;283 369 8234 12290 33402)											0							SO:0001583	missense			ENST00000264318.3	1	1	hg19	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536456	0.13188	.	.	ENSG00000109158	ENST00000264318	D	0.85861	-2.04	5.61	3.89	0.44902	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.336666	0.12855	U	0.433617	T	0.78039	0.4221	L	0.40543	1.245	0.30491	N	0.771401	B	0.06786	0.001	B	0.10450	0.005	T	0.67499	-0.5655	10	0.20519	T	0.43	.	9.7323	0.40368	0.1585:0.0:0.8415:0.0	.	380	P48169	GBRA4_HUMAN	I	380	ENSP00000264318:T380I	ENSP00000264318:T380I	T	-	2	0	GABRA4	46625525	1.000000	0.71417	0.015000	0.15790	0.207000	0.24258	2.705000	0.47127	0.744000	0.32741	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1	1	0	0	42	149	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	41	146	0	31	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRA4	2557	broad.mit.edu	37	4	46976326	46976326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46976326G>A	ENST00000264318.3	-	6	1626	c.644C>T	c.(643-645)cCg>cTg	p.P215L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	p.P215L(1)		45				Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGACTCCTTCGGAACTTCAAC	0.393000													Ovarian(6;283 369 8234 12290 33402)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264318.3	1	1	hg19	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118152	0.94385	.	.	ENSG00000109158	ENST00000264318	T	0.78816	-1.21	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85239	0.1037	10	0.62326	D	0.03	.	18.22	0.89898	0.0:0.0:1.0:0.0	.	215	P48169	GBRA4_HUMAN	L	215	ENSP00000264318:P215L	ENSP00000264318:P215L	P	-	2	0	GABRA4	46671083	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.657000	0.98554	2.774000	0.95407	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1	1	0	1	69	309	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	69	304	0	84	2								-2.505003	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRA4	2557	broad.mit.edu	37	4	46979547	46979547	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46979547G>A	ENST00000264318.3	-	4	1356	c.374C>T	c.(373-375)aCg>aTg	p.T125M		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4			45				Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCACACTTTCGTTACCATCAT	0.358000													Ovarian(6;283 369 8234 12290 33402)											0							SO:0001583	missense			ENST00000264318.3	1	1	hg19	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500609	0.64298	.	.	ENSG00000109158	ENST00000264318	T	0.78003	-1.14	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101631	0.64402	D	0.000003	T	0.68632	0.3022	N	0.14661	0.345	0.38479	D	0.947676	P	0.45986	0.87	P	0.46237	0.508	T	0.75755	-0.3206	10	0.87932	D	0	.	13.8844	0.63699	0.0:0.1523:0.8477:0.0	.	125	P48169	GBRA4_HUMAN	M	125	ENSP00000264318:T125M	ENSP00000264318:T125M	T	-	2	0	GABRA4	46674304	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	2.977000	0.49297	2.776000	0.95493	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1	1	0	1	60	247	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	58	243	0	75	2								-3.397054	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRA4	2557	broad.mit.edu	37	4	46995361	46995361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46995361C>T	ENST00000264318.3	-	1	1063	c.81G>A	c.(79-81)gcG>gcA	p.A27A	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4			45				Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCACCAAACCGCCAGGCACA	0.607000													Ovarian(6;283 369 8234 12290 33402)											0							SO:0001819	synonymous_variant			ENST00000264318.3	1	1	hg19	CCDS3473.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1	1	0	1	123	682	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	122	678	0	108	2								-2.841808	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRB1	2560	broad.mit.edu	37	4	47163380	47163380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47163380C>T	ENST00000295454.3	+	4	647	c.355C>T	c.(355-357)Cca>Tca	p.P119S	GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1			44				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACTCTGGGTACCAGACACCTA	0.438000																								0							SO:0001583	missense			ENST00000295454.3	1	1	hg19	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294940	0.81025	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	D;D;D	0.98550	-4.99;-4.99;-4.99	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.080817	0.50627	D	0.000119	D	0.99162	0.9710	H	0.95574	3.69	0.58432	D	0.999999	D;P	0.69078	0.997;0.573	D;B	0.70487	0.969;0.334	D	0.98945	1.0792	10	0.87932	D	0	-9.8015	12.9232	0.58245	0.0:0.9191:0.0:0.0809	.	49;119	F5GXV5;P18505	.;GBRB1_HUMAN	S	86;119;49	ENSP00000426753:P86S;ENSP00000295454:P119S;ENSP00000440330:P49S	ENSP00000295454:P119S	P	+	1	0	GABRB1	46858137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.611000	0.88343	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	1	132	592	0	168	0	0	0	1	0	168	2		0	0	0	0	0	2	1	1	131	588	0	168	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRB1	2560	broad.mit.edu	37	4	47427969	47427969	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47427969C>T	ENST00000295454.3	+	9	1651	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GABRB1_ENST00000538619.1_Silent_p.S383S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1			44				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAAGTGGTCCCGAATGTTTT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000295454.3	1	1	hg19	CCDS3474.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	1	126	762	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1	124	751	0	158	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COMMD8	54951	broad.mit.edu	37	4	47458637	47458637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47458637G>T	ENST00000381571.4	-	3	399	c.332C>A	c.(331-333)gCt>gAt	p.A111D		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8			8					AGAGGAAATAGCAACTATTTC	0.333000																								0							SO:0001583	missense			ENST00000381571.4	1	1	hg19	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	G	2.687	-0.273965	0.05679	.	.	ENSG00000169019	ENST00000381571	T	0.09255	3.0	5.82	-2.66	0.06077	.	0.478103	0.26007	N	0.026901	T	0.04634	0.0126	N	0.16903	0.455	0.30636	N	0.756965	B	0.13594	0.008	B	0.16289	0.015	T	0.45264	-0.9273	10	0.09338	T	0.73	-15.396	9.0728	0.36502	0.0:0.2362:0.544:0.2199	.	111	Q9NX08	COMD8_HUMAN	D	111	ENSP00000370984:A111D	ENSP00000370984:A111D	A	-	2	0	COMMD8	47153394	0.828000	0.29307	0.959000	0.39883	0.793000	0.44817	0.370000	0.20433	-0.359000	0.08150	-0.410000	0.06199	GCT		TCGA-IB-7651-01A-11D-2154-08	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	0	0	0	18	726	0	141	1	8.075615e-01	6	119	0	141	2		0	0	0	0	0	2	1	9.999766e-01	18	706	0	135	2								-2.942423	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.290000	0.170000	1.000000	0.290000	0.338565	0.290000	0	2.200000e-01	3.800000e-01
ATP10D	57205	broad.mit.edu	37	4	47559715	47559715	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47559715A>C	ENST00000273859.3	+	12	2128	c.1859A>C	c.(1858-1860)aAg>aCg	p.K620T	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D			66					TTGCCCATTAAGTCTTTGGAA	0.423000																								0							SO:0001583	missense			ENST00000273859.3	1	1	hg19	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	4.975	0.181158	0.09443	.	.	ENSG00000145246	ENST00000273859	T	0.39406	1.08	5.48	2.82	0.32997	HAD-like domain (1);	0.217737	0.46145	D	0.000317	T	0.23572	0.0570	N	0.25286	0.73	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	T	0.04946	-1.0916	10	0.08179	T	0.78	-19.5022	8.3194	0.32119	0.7755:0.1404:0.0841:0.0	.	620	Q9P241	AT10D_HUMAN	T	620	ENSP00000273859:K620T	ENSP00000273859:K620T	K	+	2	0	ATP10D	47254472	1.000000	0.71417	0.951000	0.38953	0.020000	0.10135	4.235000	0.58666	0.875000	0.35847	-0.366000	0.07423	AAG		TCGA-IB-7651-01A-11D-2154-08	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	1	0	1	61	236	0	43	1	9.993149e-01	8	37	0	43	2		0	0	0	0	0	2	1	1	61	236	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP10D	57205	broad.mit.edu	37	4	47560058	47560058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47560058G>A	ENST00000273859.3	+	12	2471	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D			66					CGGCCTTAGTGTATGCCGCCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000273859.3	1	1	hg19	CCDS3476.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	1	0	1	55	269	0	54	1	9.994891e-01	7	51	0	54	2		0	0	0	0	0	2	1	1	55	264	0	54	2								-3.360689	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP10D	57205	broad.mit.edu	37	4	47563037	47563037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47563037G>A	ENST00000273859.3	+	14	2882	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D			66					TTGACAACAGGGAAGAATTAC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000273859.3	1	1	hg19	CCDS3476.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	0	0	0	114	498	0	123	1	9.999925e-01	10	64	0	123	2		0	0	0	0	0	2	1	1	111	490	0	123	2								-3.067701	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP10D	57205	broad.mit.edu	37	4	47589067	47589067	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47589067G>A	ENST00000273859.3	+	22	4054	c.3785G>A	c.(3784-3786)aGc>aAc	p.S1262N		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D			66					ATCATTGGTAGCATCTTGTCT	0.433000																								0							SO:0001583	missense			ENST00000273859.3	1	1	hg19	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406645	0.62399	.	.	ENSG00000145246	ENST00000273859	T	0.63255	-0.03	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86843	0.6030	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91347	0.5101	10	0.87932	D	0	-6.3784	17.7053	0.88308	0.0:0.0:1.0:0.0	.	1262	Q9P241	AT10D_HUMAN	N	1262	ENSP00000273859:S1262N	ENSP00000273859:S1262N	S	+	2	0	ATP10D	47283824	1.000000	0.71417	0.984000	0.44739	0.005000	0.04900	9.515000	0.98015	2.665000	0.90641	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	1	0	1	89	413	0	95	0	9.996960e-01	1	56	0	95	2		0	0	0	0	0	2	1	1	87	408	0	95	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CORIN	10699	broad.mit.edu	37	4	47645169	47645169	+	Missense_Mutation	SNP	C	C	A	rs143147998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47645169C>A	ENST00000273857.4	-	15	2061	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y	CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase			79					TCACCACAGTCCCATTCATCT	0.478000																								0							SO:0001583	missense			ENST00000273857.4	1	1	hg19	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268349	0.59540	6.81E-4	0.0	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88	6.17	3.55	0.40652	Speract/scavenger receptor-related (1);Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.433392	0.26601	N	0.023478	D	0.96463	0.8846	M	0.67953	2.075	0.43808	D	0.996366	D;D;D	0.76494	0.989;0.992;0.999	P;P;D	0.71870	0.905;0.879;0.975	D	0.94733	0.7911	10	0.46703	T	0.11	.	9.3009	0.37845	0.0:0.7321:0.0:0.2679	.	651;621;688	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	Y	688;549;621;651;651	ENSP00000273857:D688Y;ENSP00000425597:D549Y;ENSP00000424212:D621Y;ENSP00000425401:D651Y;ENSP00000423216:D651Y	ENSP00000273857:D688Y	D	-	1	0	CORIN	47339926	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.339000	0.33885	0.492000	0.27815	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2	1	0	1	47	257	0	75	0	9.874867e-01	0	40	0	75	2		0	0	0	0	0	2	1	1	47	249	0	75	2								-4.938275	1	1	121412	12	42	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CORIN	10699	broad.mit.edu	37	4	47788906	47788906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47788906C>T	ENST00000273857.4	-	3	244	c.245G>A	c.(244-246)aGt>aAt	p.S82N	CORIN_ENST00000504584.1_Missense_Mutation_p.S82N|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000508498.1_De_novo_Start_OutOfFrame|CORIN_ENST00000505909.1_Missense_Mutation_p.S82N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase			79					CAAAGGTTCACTCCCATTTGA	0.348000																								0							SO:0001583	missense			ENST00000273857.4	1	0	hg19	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889134	0.33348	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.93712	-2.74;-2.65;-3.27	4.78	3.93	0.45458	.	0.273464	0.34628	N	0.003803	D	0.89389	0.6701	N	0.20986	0.625	0.32522	N	0.53616	P;P;P	0.48764	0.915;0.888;0.627	B;P;B	0.47102	0.397;0.537;0.196	D	0.91141	0.4945	10	0.62326	D	0.03	.	11.2784	0.49180	0.0:0.8161:0.1839:0.0	.	82;82;82	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	N	82	ENSP00000273857:S82N;ENSP00000425401:S82N;ENSP00000423216:S82N	ENSP00000273857:S82N	S	-	2	0	CORIN	47483663	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	2.087000	0.41653	1.385000	0.46445	0.558000	0.71614	AGT		TCGA-IB-7651-01A-11D-2154-08	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2	1	0	1	33	139	0	27	0	9.606098e-01	0	25	0	27	2		0	0	0	0	0	2	1	1	33	136	0	27	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TEC	7006	broad.mit.edu	37	4	48147173	48147173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48147173C>T	ENST00000381501.3	-	14	1550	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase			31					CTCAGCAGTACGTCTCTACTG	0.478000																								0							SO:0001583	missense			ENST00000381501.3	1	1	hg19	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964254	0.18583	.	.	ENSG00000135605	ENST00000381501	D	0.82433	-1.61	5.61	-6.45	0.01914	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.303290	0.04815	N	0.435902	T	0.65365	0.2684	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52990	-0.8501	10	0.33940	T	0.23	.	11.6645	0.51366	0.0824:0.2632:0.0:0.6544	.	465	P42680	TEC_HUMAN	I	465	ENSP00000370912:V465I	ENSP00000370912:V465I	V	-	1	0	TEC	47841930	0.000000	0.05858	0.010000	0.14722	0.975000	0.68041	-3.266000	0.00534	-1.167000	0.02779	0.491000	0.48974	GTA		TCGA-IB-7651-01A-11D-2154-08	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3	1	0	1	131	601	0	144	1	6.614370e-01	4	8	0	144	2		0	0	0	0	0	2	1	1	129	587	0	143	2								-20.000000	1	1	121412	1	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEC	7006	broad.mit.edu	37	4	48151572	48151572	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48151572A>G	ENST00000381501.3	-	11	1164		c.e11+1		TEC_ENST00000511471.2_Splice_Site	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase			31					CAGCTCACTTACCTGCTGCAT	0.333000																								0							SO:0001630	splice_region_variant			ENST00000381501.3	1	1	hg19	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311049	0.40895	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEC	47846329	1.000000	0.71417	0.981000	0.43875	0.135000	0.20990	9.307000	0.96226	2.227000	0.72691	0.460000	0.39030	.		TCGA-IB-7651-01A-11D-2154-08	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3	1	0	1	46	234	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	45	226	0	58	2								-19.999950	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC10A4	201780	broad.mit.edu	37	4	48486146	48486146	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48486146G>A	ENST00000273861.4	+	1	787	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	p.V190L(1)		6					GTCCCTGCTGGTTGACGGCGA	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000273861.4	1	1	hg19	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953974	0.73902	.	.	ENSG00000145248	ENST00000273861	T	0.11604	2.76	5.83	4.99	0.66335	.	0.111035	0.64402	D	0.000011	T	0.20170	0.0485	M	0.62723	1.935	0.44976	D	0.997994	P	0.41710	0.76	P	0.45538	0.484	T	0.00855	-1.1539	10	0.54805	T	0.06	-23.9258	17.0391	0.86483	0.0:0.1272:0.8728:0.0	.	190	Q96EP9	NTCP4_HUMAN	I	190	ENSP00000273861:V190I	ENSP00000273861:V190I	V	+	1	0	SLC10A4	48180903	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	6.366000	0.73095	1.460000	0.47911	0.491000	0.48974	GTT		TCGA-IB-7651-01A-11D-2154-08	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	1	0	1	67	280	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	67	279	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZAR1	326340	broad.mit.edu	37	4	48496233	48496233	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48496233G>T	ENST00000327939.4	+	4	1287	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1			5					TCCTGTGACAGCACTTTCAGC	0.512000																								0							SO:0001583	missense			ENST00000327939.4	1	1	hg19	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211478	0.58343	.	.	ENSG00000182223	ENST00000327939	.	.	.	5.97	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	L	0.36672	1.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.71490	-0.4577	9	0.87932	D	0	-28.6385	15.234	0.73413	0.0672:0.0:0.9328:0.0	.	416	Q86SH2	ZAR1_HUMAN	I	416	.	ENSP00000329803:S416I	S	+	2	0	ZAR1	48190990	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	6.328000	0.72915	1.542000	0.49330	-0.140000	0.14226	AGC		TCGA-IB-7651-01A-11D-2154-08	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3	1	0	0	40	346	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	39	343	0	65	2								-14.346700	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.900000	1.000000	1.000000	0.993775	0.990000	1	9.900000e-01	1
FRYL	285527	broad.mit.edu	37	4	48501642	48501642	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48501642G>A	ENST00000503238.1	-	61	8838	c.8839C>T	c.(8839-8841)Ctg>Ttg	p.L2947L	FRYL_ENST00000537810.1_Silent_p.L2947L|FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000358350.4_Silent_p.L2947L|FRYL_ENST00000507873.2_Silent_p.L337L			O94915	FRYL_HUMAN	FRY-like			91					ATATGTAACAGTGTCTGTACA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000503238.1	1	1	hg19	CCDS43227.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1	97	349	0	82	1	9.999042e-01	4	47	0	82	2		0	0	0	0	0	2	1	1	95	346	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRYL	285527	broad.mit.edu	37	4	48502115	48502115	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48502115A>C	ENST00000503238.1	-	60	8714	c.8715T>G	c.(8713-8715)atT>atG	p.I2905M	FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000358350.4_Missense_Mutation_p.I2905M|FRYL_ENST00000507873.2_Missense_Mutation_p.I295M			O94915	FRYL_HUMAN	FRY-like			91					TTAAAGAATGAATGGCAGTTT	0.373000																								0							SO:0001583	missense			ENST00000503238.1	1	1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826638	0.71143	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.25579	1.79;1.79;1.79	5.95	2.33	0.28932	.	0.071684	0.53938	U	0.000056	T	0.36303	0.0962	L	0.50333	1.59	0.54753	D	0.999988	P;P;D	0.63880	0.586;0.821;0.993	P;P;P	0.61477	0.602;0.776;0.889	T	0.04885	-1.0920	10	0.52906	T	0.07	.	8.3532	0.32314	0.7613:0.0:0.2387:0.0	.	2905;2905;295	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	M	2905;2905;2905;295;295	ENSP00000426064:I2905M;ENSP00000351113:I2905M;ENSP00000441114:I2905M	ENSP00000264319:I295M	I	-	3	3	FRYL	48196872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.077000	0.50089	0.509000	0.28195	0.402000	0.26972	ATT		TCGA-IB-7651-01A-11D-2154-08	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1	59	278	0	60	1	9.742890e-01	5	25	0	60	2		0	0	0	0	0	2	1	9.999999e-01	59	277	1	60	18								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRYL	285527	broad.mit.edu	37	4	48503735	48503735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48503735G>A	ENST00000503238.1	-	59	8496	c.8497C>T	c.(8497-8499)Cga>Tga	p.R2833*	FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.R2833*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*			O94915	FRYL_HUMAN	FRY-like			91					TATAATCTTCGGCAGAGCTCC	0.303000																								0							SO:0001587	stop_gained			ENST00000503238.1	0	1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	53	20.455387	0.99931	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.45	4.53	0.55603	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8329	0.70162	0.0:0.0:0.8146:0.1854	.	.	.	.	X	2833;2833;2833;223;223	.	ENSP00000264319:R223X	R	-	1	2	FRYL	48198492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.270000	0.78493	1.216000	0.43427	0.484000	0.47621	CGA		TCGA-IB-7651-01A-11D-2154-08	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1	101	464	0	119	1	9.999725e-01	14	57	0	119	2		0	0	0	0	0	2	1	1	100	455	1	119	17								-3.368601	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRYL	285527	broad.mit.edu	37	4	48512134	48512134	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48512134A>T	ENST00000503238.1	-	56	8335	c.8336T>A	c.(8335-8337)gTt>gAt	p.V2779D	FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000358350.4_Missense_Mutation_p.V2779D|FRYL_ENST00000507873.2_Missense_Mutation_p.V175D			O94915	FRYL_HUMAN	FRY-like			91					CAACTCCAAAACACCAAACTT	0.418000																								0							SO:0001583	missense			ENST00000503238.1	1	1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058218	0.76074	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.32515	1.46;1.46;1.45	5.93	5.93	0.95920	.	0.000000	0.64402	U	0.000007	T	0.60612	0.2282	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.992;0.997;1.0	D;D;D	0.91635	0.944;0.975;0.999	T	0.66256	-0.5969	10	0.87932	D	0	.	16.3783	0.83418	1.0:0.0:0.0:0.0	.	2779;2779;175	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	D	2779;2779;2779;175;175	ENSP00000426064:V2779D;ENSP00000351113:V2779D;ENSP00000441114:V2779D	ENSP00000264319:V175D	V	-	2	0	FRYL	48206891	1.000000	0.71417	0.957000	0.39632	0.293000	0.27360	7.065000	0.76727	2.261000	0.74972	0.477000	0.44152	GTT		TCGA-IB-7651-01A-11D-2154-08	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1	41	198	0	65	1	9.995892e-01	20	40	0	65	2		0	0	0	0	0	2	1	1	41	197	0	64	2								-19.998840	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FRYL	285527	broad.mit.edu	37	4	48578084	48578084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48578084G>A	ENST00000503238.1	-	21	2683	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	FRYL_ENST00000507711.1_Missense_Mutation_p.A895V|FRYL_ENST00000537810.1_Missense_Mutation_p.A895V|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.A895V			O94915	FRYL_HUMAN	FRY-like			91					TGGGGTAGACGCCAGCGTCTC	0.448000																								0							SO:0001583	missense			ENST00000503238.1	1	1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967701	0.74131	2.63E-4	0.0	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.68439	0.3001	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.979	D;B	0.65874	0.939;0.359	T	0.70479	-0.4860	10	0.62326	D	0.03	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	895;895	F2Z2S2;O94915	.;FRYL_HUMAN	V	895	ENSP00000426064:A895V;ENSP00000351113:A895V;ENSP00000441114:A895V;ENSP00000421584:A895V	ENSP00000351113:A895V	A	-	2	0	FRYL	48272841	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	7.623000	0.83113	2.430000	0.82344	0.467000	0.42956	GCG		TCGA-IB-7651-01A-11D-2154-08	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1	118	598	0	167	1	9.670570e-01	3	27	0	167	2		0	0	0	0	0	2	1	1	117	586	0	167	2								-20.000000	1	1	120826	2	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRYL	285527	broad.mit.edu	37	4	48604058	48604058	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604058C>A	ENST00000503238.1	-	10	1013	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H|FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.Q338H			O94915	FRYL_HUMAN	FRY-like			91					ACAAACAGTTCTGTAGGAAAA	0.313000																								0							SO:0001583	missense			ENST00000503238.1	1	1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213028	0.58452	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.14;-0.2	5.54	-0.577	0.11727	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000004	T	0.60715	0.2290	N	0.19112	0.55	0.80722	D	1	P;D	0.55605	0.891;0.972	P;P	0.57425	0.601;0.82	T	0.59172	-0.7504	10	0.49607	T	0.09	.	11.0087	0.47651	0.0:0.4995:0.0:0.5004	.	338;338	F2Z2S2;O94915	.;FRYL_HUMAN	H	338;338;338;338;44	ENSP00000426064:Q338H;ENSP00000351113:Q338H;ENSP00000441114:Q338H;ENSP00000421584:Q338H;ENSP00000425592:Q44H	ENSP00000351113:Q338H	Q	-	3	2	FRYL	48298815	0.982000	0.34865	0.997000	0.53966	0.995000	0.86356	0.257000	0.18369	-0.072000	0.12864	-0.140000	0.14226	CAG		TCGA-IB-7651-01A-11D-2154-08	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	1	0	1	39	185	0	63	1	7.630983e-01	2	13	0	63	2		0	0	0	0	0	2	1	1	38	181	0	63	2								-19.995110	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FRYL	285527	broad.mit.edu	37	4	48607807	48607807	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48607807T>G	ENST00000503238.1	-	8	784	c.785A>C	c.(784-786)aAa>aCa	p.K262T	FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.K262T|FRYL_ENST00000537810.1_Missense_Mutation_p.K262T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.K262T			O94915	FRYL_HUMAN	FRY-like			91					AAGTGCATGTTTTATATCTTT	0.308000																								0							SO:0001583	missense			ENST00000503238.1	1	1	hg19	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839186	0.91117	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.2	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.82660	0.5085	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.87578	0.982;0.998	D	0.85140	0.0980	10	0.72032	D	0.01	.	15.8777	0.79178	0.0:0.0:0.0:1.0	.	262;262	F2Z2S2;O94915	.;FRYL_HUMAN	T	262	ENSP00000426064:K262T;ENSP00000351113:K262T;ENSP00000441114:K262T;ENSP00000421584:K262T	ENSP00000351113:K262T	K	-	2	0	FRYL	48302564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.151000	0.67156	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	0	0	0	15	380	0	67	0	2.231449e-01	1	21	0	67	2		0	0	0	0	0	2	1	9.998517e-01	14	371	0	66	2								-15.497350	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.460000	0.260000	1.000000	0.440000	0.500754	0.460000	0	3.500000e-01	6.200000e-01
MSX1	4487	broad.mit.edu	37	4	4864471	4864471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4864471G>A	ENST00000382723.4	+	2	747	c.513G>A	c.(511-513)acG>acA	p.T171T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1			11					AACACAAGACGAACCGTAAGC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000382723.4	1	1	hg19	CCDS3378.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3	1	0	1	200	936	0	145	0	8.002098e-01	0	16	0	145	2		0	0	0	0	0	2	1	1	197	908	1	141	25								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OCIAD1	54940	broad.mit.edu	37	4	48844691	48844691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48844691G>T	ENST00000381473.3	+	4	596	c.178G>T	c.(178-180)Gga>Tga	p.G60*	OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000425583.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1			9					GATTACTCAAGGATTAATTAG	0.284000																								0							SO:0001587	stop_gained			ENST00000381473.3	0	1	hg19	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826178	0.90955	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000509664;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	.	.	.	5.57	5.57	0.84162	.	0.295147	0.36482	N	0.002563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.612	10.8701	0.46879	0.0862:0.0:0.9138:0.0	.	.	.	.	X	60;33;60;33;60;60;60;60;60;60;60;60;60;60;60;6;6;6;6;60;60;60	.	ENSP00000264312:G60X	G	+	1	0	OCIAD1	48539448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.785000	0.95823	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	1	0	1	25	190	0	55	1	1	14	294	0	55	2		0	0	0	0	0	2	1	9.999999e-01	25	187	0	55	2								-2.775040	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.920000	1.000000	1.000000	0.995770	0.990000	1	9.900000e-01	1
OCIAD1	54940	broad.mit.edu	37	4	48850458	48850458	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48850458T>G	ENST00000381473.3	+	5	654	c.236T>G	c.(235-237)cTt>cGt	p.L79R	OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000425583.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1			9					ATCCCTAAACTTATACGTAAG	0.259000																								0							SO:0001583	missense			ENST00000381473.3	1	1	hg19	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280375	0.80692	.	.	ENSG00000109180	ENST00000504654;ENST00000509122;ENST00000505922;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000509246;ENST00000506801;ENST00000503016;ENST00000510824;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.53	5.53	0.82687	.	0.120460	0.56097	D	0.000038	T	0.61899	0.2384	L	0.55481	1.735	0.41182	D	0.98624	D;D;D;D	0.65815	0.995;0.995;0.995;0.991	D;P;P;D	0.64776	0.929;0.861;0.861;0.913	T	0.65467	-0.6161	10	0.72032	D	0.01	-12.937	13.6181	0.62121	0.0:0.0:0.0:1.0	.	52;79;79;79	D6RBN5;Q9NX40-3;Q9NX40-2;Q9NX40	.;.;.;OCAD1_HUMAN	R	79;52;52;79;79;79;79;79;79;79;79;79;79;79;25;25;25;25;79;79;79	ENSP00000423381:L79R;ENSP00000424041:L52R;ENSP00000423126:L52R;ENSP00000423845:L79R;ENSP00000424252:L79R;ENSP00000420917:L79R;ENSP00000264312:L79R;ENSP00000379725:L79R;ENSP00000426386:L79R;ENSP00000426902:L79R;ENSP00000427389:L79R;ENSP00000370882:L79R;ENSP00000399656:L79R;ENSP00000425633:L79R;ENSP00000420881:L25R;ENSP00000427363:L25R;ENSP00000425356:L25R;ENSP00000425968:L25R;ENSP00000416943:L79R;ENSP00000423002:L79R;ENSP00000423909:L79R	ENSP00000264312:L79R	L	+	2	0	OCIAD1	48545215	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.212000	0.65225	2.087000	0.62958	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	1	0	1	38	107	0	37	1	1	63	256	0	37	2		0	0	0	0	0	2	1	1	37	105	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CWH43	80157	broad.mit.edu	37	4	48994109	48994109	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48994109T>C	ENST00000226432.4	+	4	694		c.e4+2		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)			43					TTGGCACAGGTAATACTGTAA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000226432.4	1	1	hg19	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059589	0.36373	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	5.24	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.499	0.39006	0.0:0.0792:0.0:0.9208	.	.	.	.	.	-1	.	.	.	+	.	.	CWH43	48688866	1.000000	0.71417	0.991000	0.47740	0.476000	0.33039	3.095000	0.50235	1.024000	0.39682	0.402000	0.26972	.		TCGA-IB-7651-01A-11D-2154-08	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	1	0	1	49	245	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	49	242	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CWH43	80157	broad.mit.edu	37	4	49000506	49000506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49000506G>A	ENST00000226432.4	+	6	926	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CWH43_ENST00000513409.1_Missense_Mutation_p.G221E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)			43					TTGGCAAGTGGATTGATGCTT	0.413000																								0							SO:0001583	missense			ENST00000226432.4	1	1	hg19	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089447	0.55968	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.52526	1.22;0.66	4.16	4.16	0.48862	.	0.000000	0.47455	D	0.000229	T	0.66839	0.2830	M	0.69823	2.125	0.46437	D	0.999042	D	0.89917	1.0	D	0.97110	1.0	T	0.67573	-0.5636	9	.	.	.	.	15.8982	0.79350	0.0:0.0:1.0:0.0	.	248	Q9H720	PG2IP_HUMAN	E	248;221	ENSP00000226432:G248E;ENSP00000422802:G221E	.	G	+	2	0	CWH43	48695263	1.000000	0.71417	0.997000	0.53966	0.370000	0.29829	5.658000	0.68003	2.618000	0.88619	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	1	0	1	74	422	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	73	415	0	93	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CWH43	80157	broad.mit.edu	37	4	49034600	49034600	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49034600G>A	ENST00000226432.4	+	12	1709	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	CWH43_ENST00000513409.1_Missense_Mutation_p.R482K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)			43					GCTTTGTCAAGATACCCAATT	0.458000																								0							SO:0001583	missense			ENST00000226432.4	1	1	hg19	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764591	0.02996	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.78246	-1.16;-1.16	5.24	5.24	0.73138	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000016	T	0.45955	0.1368	N	0.00652	-1.29	0.38358	D	0.944522	B	0.33022	0.394	B	0.24974	0.057	T	0.58317	-0.7657	9	.	.	.	.	16.7881	0.85579	0.0:0.0:1.0:0.0	.	509	Q9H720	PG2IP_HUMAN	K	509;482	ENSP00000226432:R509K;ENSP00000422802:R482K	.	R	+	2	0	CWH43	48729357	0.998000	0.40836	0.865000	0.33974	0.101000	0.19017	4.487000	0.60293	2.737000	0.93849	0.561000	0.74099	AGA		TCGA-IB-7651-01A-11D-2154-08	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	1	0	1	199	1035	0	282		0	0	0	0	282	2		0	0	0	0	0	2	1	1	194	1020	0	281	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYTL1	54360	broad.mit.edu	37	4	5016925	5016925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5016925C>A	ENST00000307746.4	-	4	390	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1			11					ATTGGGTATTCCAAGGCATTG	0.478000													Colon(15;457 478 29696 43408 47165)											0							SO:0001587	stop_gained			ENST00000307746.4	0	1	hg19	CCDS3379.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.80|11.80|11.80	1.747105|1.747105|1.747105	0.30955|0.30955|0.30955	.|.|.	.|.|.	ENSG00000170891|ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508|ENST00000509419	.|.|.	.|.|.	.|.|.	4.46|4.46|4.46	4.46|4.46|4.46	0.54185|0.54185|0.54185	.|.|.	0.142736|.|.	0.45361|.|.	D|.|.	0.000361|.|.	.|T|T	.|0.64046|0.64046	.|0.2563|0.2563	.|.|.	.|.|.	.|.|.	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.63175|0.63175	.|-0.6696|-0.6696	.|4|4	0.72032|.|.	D|.|.	0.01|.|.	-20.4236|-20.4236|-20.4236	12.6303|12.6303|12.6303	0.56653|0.56653|0.56653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	122|61|77	.|.|.	ENSP00000303550:E122X|.|.	E|G|W	-|-|-	1|2|3	0|0|0	CYTL1|CYTL1|CYTL1	5067826|5067826|5067826	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.809000|0.809000|0.809000	0.32408|0.32408|0.32408	0.101000|0.101000|0.101000	0.19017|0.19017|0.19017	3.648000|3.648000|3.648000	0.54410|0.54410|0.54410	2.022000|2.022000|2.022000	0.59522|0.59522|0.59522	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAA|GGA|TGG		TCGA-IB-7651-01A-11D-2154-08	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	1	0	1	25	109	0	42	0	5.308476e-01	0	9	0	42	2		0	0	0	0	0	2	1	9.999999e-01	24	106	0	42	2								-3.284011	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
PIGG	54872	broad.mit.edu	37	4	524230	524230	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:524230T>G	ENST00000453061.2	+	11	2373	c.2267T>G	c.(2266-2268)aTt>aGt	p.I756S	PIGG_ENST00000383028.4_Missense_Mutation_p.I623S|PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G			39					TTTAGGGGTATTATTGAAGCT	0.378000																								0							SO:0001583	missense			ENST00000453061.2	1	1	hg19	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381845	0.61845	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.12569	2.99;2.99;2.67;2.67	5.62	5.62	0.85841	.	0.143965	0.64402	D	0.000007	T	0.18341	0.0440	M	0.65975	2.015	0.80722	D	1	P;P;P	0.43973	0.702;0.729;0.823	B;B;B	0.42495	0.294;0.218;0.389	T	0.05099	-1.0906	10	0.16420	T	0.52	-14.3867	14.0652	0.64824	0.0:0.0:0.0:1.0	.	623;756;748	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	S	748;756;667;623	ENSP00000311750:I748S;ENSP00000415203:I756S;ENSP00000424800:I667S;ENSP00000372494:I623S	ENSP00000311750:I748S	I	+	2	0	PIGG	514230	1.000000	0.71417	0.027000	0.17364	0.974000	0.67602	5.364000	0.66110	2.263000	0.75096	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	1	0	1	73	391	0	65	1	9.960276e-01	3	44	0	65	2		0	0	0	0	0	2	1	1	71	388	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCUN1D4	23142	broad.mit.edu	37	4	52740484	52740484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740484C>T	ENST00000334635.5	+	4	364	c.184C>T	c.(184-186)Cca>Tca	p.P62S	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000513800.1_3'UTR	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4			9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		TAAAGTGATGCCACCAAGGAA	0.393000																								0							SO:0001583	missense			ENST00000334635.5	1	1	hg19	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.365101	0.82463	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.18	5.18	0.71444	.	0.165490	0.53938	D	0.000041	T	0.62539	0.2436	L	0.39245	1.2	0.53005	D	0.999969	B;D;B	0.58970	0.264;0.984;0.264	B;P;B	0.58780	0.093;0.845;0.178	T	0.56153	-0.8026	9	0.19590	T	0.45	-15.7428	15.8845	0.79232	0.0:1.0:0.0:0.0	.	106;62;62	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	S	62;62;2;106;106	.	ENSP00000334625:P62S	P	+	1	0	DCUN1D4	52435241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.207000	0.72159	2.426000	0.82243	0.651000	0.88453	CCA		TCGA-IB-7651-01A-11D-2154-08	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	1	0	1	73	330	0	82	1	9.988524e-01	13	35	0	82	2		0	0	0	0	0	2	1	1	71	325	0	81	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCUN1D4	23142	broad.mit.edu	37	4	52740552	52740552	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740552G>A	ENST00000334635.5	+	4	431		c.e4+1		DCUN1D4_ENST00000381437.4_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000513800.1_Splice_Site	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4			9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		GACATGATAGGTATGATGTAG	0.403000																								0							SO:0001630	splice_region_variant			ENST00000334635.5	1	1	hg19	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216602	0.58452	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6259	0.76855	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCUN1D4	52435309	1.000000	0.71417	0.998000	0.56505	0.650000	0.38633	7.843000	0.86859	2.366000	0.80165	0.651000	0.88453	.		TCGA-IB-7651-01A-11D-2154-08	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	1	0	1	57	260	0	63	1	8.803632e-02	3	0	0	63	2		0	0	0	0	0	2	1	1	55	256	0	62	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIGG	54872	broad.mit.edu	37	4	527709	527709	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:527709T>C	ENST00000453061.2	+	12	2780	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H|PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G			39					GTTTGGGACGTACGCAGGGCC	0.607000																								0							SO:0001583	missense			ENST00000453061.2	1	1	hg19	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552486	0.86127	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.78	5.78	0.91487	.	0.119076	0.64402	D	0.000016	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.74674	0.945;0.963;0.984	T	0.64516	-0.6389	10	0.87932	D	0	-10.8366	14.3442	0.66649	0.0:0.0:0.0:1.0	.	759;892;884	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	884;892;803;759;48	ENSP00000311750:Y884H;ENSP00000415203:Y892H;ENSP00000424800:Y803H;ENSP00000372494:Y759H	ENSP00000311750:Y884H	Y	+	1	0	PIGG	517709	1.000000	0.71417	0.012000	0.15200	0.844000	0.47949	7.431000	0.80335	2.333000	0.79357	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	1	0	1	52	281	0	67	1	9.999974e-01	62	42	0	67	2		0	0	0	0	0	2	1	1	52	281	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC66	339977	broad.mit.edu	37	4	52861802	52861802	+	Missense_Mutation	SNP	C	C	A	rs141259484	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52861802C>A	ENST00000343457.3	-	4	1392	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66			58					GTGGGTGTGGCTGTGTCACCC	0.577000																								0							SO:0001583	missense			ENST00000343457.3	1	1	hg19	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513089	0.27123	.	.	ENSG00000188993	ENST00000343457	T	0.28255	1.62	2.99	2.14	0.27477	.	0.859774	0.09688	N	0.768846	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	P	0.52316	0.952	B	0.39660	0.306	T	0.10706	-1.0618	10	0.59425	D	0.04	-0.0013	3.7545	0.08579	0.2394:0.6286:0.0:0.132	.	462	Q68CR7	LRC66_HUMAN	H	462	ENSP00000341944:Q462H	ENSP00000341944:Q462H	Q	-	3	2	LRRC66	52556559	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.063000	0.11655	0.834000	0.34852	0.467000	0.42956	CAG		TCGA-IB-7651-01A-11D-2154-08	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	1	0	1	96	404	0	109	1	4.733224e-01	2	6	0	109	2		0	0	0	0	0	2	1	1	91	390	0	108	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC66	339977	broad.mit.edu	37	4	52862271	52862271	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52862271G>A	ENST00000343457.3	-	4	923	c.917C>T	c.(916-918)cCt>cTt	p.P306L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66			58					ATGAATGGGAGGAAGGCGGGT	0.537000																								0							SO:0001583	missense			ENST00000343457.3	1	1	hg19	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719568	0.48728	.	.	ENSG00000188993	ENST00000343457	T	0.36157	1.27	4.24	1.46	0.22682	.	0.353469	0.20919	N	0.083305	T	0.22898	0.0553	N	0.24115	0.695	0.20563	N	0.999881	B	0.25272	0.122	B	0.29267	0.1	T	0.17531	-1.0366	10	0.40728	T	0.16	-2.7327	7.8087	0.29217	0.2827:0.0:0.7173:0.0	.	306	Q68CR7	LRC66_HUMAN	L	306	ENSP00000341944:P306L	ENSP00000341944:P306L	P	-	2	0	LRRC66	52557028	0.933000	0.31639	0.006000	0.13384	0.007000	0.05969	1.398000	0.34554	0.136000	0.18733	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	1	0	1	62	203	0	59	1	1.418113e-01	2	1	0	59	2		0	0	0	0	0	2	1	1	62	202	0	58	2								-4.068645	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGCB	6443	broad.mit.edu	37	4	52899737	52899737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52899737C>A	ENST00000381431.5	-	2	325	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SGCB_ENST00000535450.1_Intron	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)			17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		CTGTTGTGCTCTTTATTGACA	0.408000																								0							SO:0001587	stop_gained			ENST00000381431.5	0	1	hg19	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275395	0.59649	.	.	ENSG00000163069	ENST00000381431	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.921	0.88966	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000370839:E35X	E	-	1	0	SGCB	52594494	1.000000	0.71417	0.997000	0.53966	0.051000	0.14879	7.750000	0.85110	2.476000	0.83614	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2	0	0	0	17	467	0	102	0	8.775867e-01	0	104	0	102	2		0	0	0	0	0	2	1	9.999583e-01	15	457	0	102	2								-2.883377	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.420000	0.250000	1.000000	0.410000	0.465610	0.420000	0	3.300000e-01	5.600000e-01
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	p.K404N(2)		41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		TCAATCCCAAGATTTCATTCC	0.443000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000295213.4	1	1	hg19	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559194	0.65538	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34859	1.34;3.69	5.4	5.4	0.78164	.	0.318068	0.38326	N	0.001736	T	0.52322	0.1727	L	0.55481	1.735	0.43647	D	0.996057	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.51474	-0.8701	10	0.66056	D	0.02	-28.9994	9.989	0.41858	0.089:0.0:0.911:0.0	.	372;404;404	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	404;372	ENSP00000295213:K404N;ENSP00000415309:K372N	ENSP00000295213:K404N	K	+	3	2	SPATA18	52640699	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.347000	0.44036	2.814000	0.96858	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	1	0	1	247	1112	0	213	1	9.730202e-01	2	26	0	213	2		0	0	0	0	0	2	1	1	241	1081	0	205	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPATA18	132671	broad.mit.edu	37	4	52945959	52945959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945959T>C	ENST00000295213.4	+	9	1603	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	SPATA18_ENST00000419395.2_Missense_Mutation_p.V378A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18			41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		TTCCCTCCTGTCGTTGACTTT	0.443000																								0							SO:0001583	missense			ENST00000295213.4	1	1	hg19	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995522	0.35226	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.27720	1.65;4.33	5.55	4.36	0.52297	.	0.153319	0.56097	D	0.000021	T	0.15565	0.0375	N	0.08118	0	0.22827	N	0.998686	B;B;B	0.28258	0.01;0.017;0.205	B;B;B	0.21708	0.009;0.009;0.036	T	0.15378	-1.0439	10	0.56958	D	0.05	-12.8994	9.9848	0.41835	0.8421:0.0:0.0:0.1579	.	378;410;410	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	A	410;378	ENSP00000295213:V410A;ENSP00000415309:V378A	ENSP00000295213:V410A	V	+	2	0	SPATA18	52640716	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	5.017000	0.64047	1.108000	0.41662	-0.339000	0.08088	GTC		TCGA-IB-7651-01A-11D-2154-08	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	0	0	1	138	1188	0	217	0	8.466951e-01	1	30	0	217	2		0	0	0	0	0	2	1	1	132	1163	0	210	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999828	0.990000	1	9.900000e-01	1
USP46	64854	broad.mit.edu	37	4	53468125	53468125	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53468125C>T	ENST00000441222.3	-	7	1002	c.818G>A	c.(817-819)cGt>cAt	p.R273H	USP46_ENST00000508499.1_Missense_Mutation_p.R266H|USP46_ENST00000451218.2_Missense_Mutation_p.R246H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46			12			LUSC - Lung squamous cell carcinoma(32;0.0295)		GAAGACCACACGGTAAGACAG	0.532000																								0							SO:0001583	missense			ENST00000441222.3	1	1	hg19	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628849	0.67015	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32023	1.47;1.47;1.47	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000035	T	0.52354	0.1729	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.75484	0.986;0.971;0.964;0.939	T	0.51663	-0.8677	10	0.59425	D	0.04	-13.6899	18.0298	0.89279	0.0:1.0:0.0:0.0	.	157;261;273;266	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	H	273;246;266	ENSP00000407818:R273H;ENSP00000390102:R246H;ENSP00000423244:R266H	ENSP00000407818:R273H	R	-	2	0	USP46	53162882	1.000000	0.71417	0.937000	0.37676	0.011000	0.07611	7.776000	0.85560	2.559000	0.86315	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	1	0	1	71	244	0	61	1	9.992786e-01	8	32	0	61	2		0	0	0	0	0	2	1	1	70	240	0	60	2								-20.000000	1	1	121048	2	37	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASL11B	65997	broad.mit.edu	37	4	53731794	53731794	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731794T>C	ENST00000248706.3	+	4	787	c.569T>C	c.(568-570)gTc>gCc	p.V190A	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B			9			LUSC - Lung squamous cell carcinoma(32;0.0302)		TATAATGATGTCTACAGCGCC	0.502000																								0							SO:0001583	missense			ENST00000248706.3	1	1	hg19	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.071696	0.55646	.	.	ENSG00000128045	ENST00000248706	D	0.82167	-1.58	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.86573	2.825	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93249	0.6633	10	0.87932	D	0	.	14.9182	0.70815	0.0:0.0:0.0:1.0	.	190	Q9BPW5	RSLBB_HUMAN	A	190	ENSP00000248706:V190A	ENSP00000248706:V190A	V	+	2	0	RASL11B	53426551	1.000000	0.71417	0.996000	0.52242	0.042000	0.13812	7.694000	0.84235	2.099000	0.63709	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	1	0	1	175	822	0	195	0	9.478669e-01	0	25	0	195	2		0	0	0	0	0	2	1	1	173	818	0	194	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASL11B	65997	broad.mit.edu	37	4	53731934	53731934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731934G>T	ENST00000248706.3	+	4	927	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B			9			LUSC - Lung squamous cell carcinoma(32;0.0302)		GTTTAAGCAAGCCCTCTCTGC	0.562000																								0							SO:0001583	missense			ENST00000248706.3	1	1	hg19	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855242	0.91355	.	.	ENSG00000128045	ENST00000248706	T	0.71103	-0.54	5.86	5.86	0.93980	.	0.044956	0.85682	D	0.000000	T	0.76695	0.4023	L	0.58810	1.83	0.80722	D	1	D	0.56968	0.978	P	0.50754	0.649	T	0.77632	-0.2515	10	0.56958	D	0.05	.	19.1747	0.93599	0.0:0.0:1.0:0.0	.	237	Q9BPW5	RSLBB_HUMAN	S	237	ENSP00000248706:A237S	ENSP00000248706:A237S	A	+	1	0	RASL11B	53426691	1.000000	0.71417	0.959000	0.39883	0.832000	0.47134	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	1	0	1	37	194	0	51	0	9.592929e-01	0	30	0	51	2		0	0	0	0	0	2	1	1	36	192	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
SCFD2	152579	broad.mit.edu	37	4	53786923	53786923	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53786923G>A	ENST00000401642.3	-	6	1809	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2			30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		AACATATACAGACTTAAACTG	0.378000																								0							SO:0001583	missense			ENST00000401642.3	1	1	hg19	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553179	0.65425	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78816	-1.11;-1.21	4.81	4.81	0.61882	.	0.053112	0.85682	D	0.000000	D	0.85137	0.5628	M	0.61703	1.905	0.50467	D	0.999871	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	D	0.83956	0.0319	10	0.40728	T	0.16	.	13.5539	0.61749	0.0:0.0:1.0:0.0	.	559;559	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	F	559	ENSP00000384182:S559F;ENSP00000373592:S559F	ENSP00000373592:S559F	S	-	2	0	SCFD2	53481680	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.436000	0.66538	2.659000	0.90383	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	1	0	1	59	284	0	65	1	9.965697e-01	9	35	0	65	2		0	0	0	0	0	2	1	1	60	281	0	65	2								-3.269308	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCFD2	152579	broad.mit.edu	37	4	54231417	54231417	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54231417C>T	ENST00000401642.3	-	1	825	c.692G>A	c.(691-693)gGa>gAa	p.G231E	SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2			30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		CTCCCGTACTCCTAAATGTTC	0.527000																								0							SO:0001583	missense			ENST00000401642.3	1	1	hg19	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732558	0.69189	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	D;D	0.83163	-1.69;-1.69	5.51	5.51	0.81932	.	0.050423	0.85682	D	0.000000	D	0.89298	0.6675	M	0.62723	1.935	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.976	D	0.86623	0.1880	10	0.30854	T	0.27	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	231;231	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	E	231	ENSP00000384182:G231E;ENSP00000373592:G231E	ENSP00000373592:G231E	G	-	2	0	SCFD2	53926174	0.428000	0.25522	0.953000	0.39169	0.317000	0.28152	1.947000	0.40293	2.873000	0.98535	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	1	0	1	93	390	0	111	1	9.991241e-01	10	36	0	111	2		0	0	0	0	0	2	1	1	92	387	0	111	2								-3.112986	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCFD2	152579	broad.mit.edu	37	4	54232059	54232059	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54232059A>G	ENST00000401642.3	-	1	183	c.50T>C	c.(49-51)gTg>gCg	p.V17A	SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2			30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		TTTGGCCAGCACCTGCTCCCA	0.622000																								0							SO:0001583	missense			ENST00000401642.3	1	1	hg19	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432887	0.83776	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.59364	0.29;0.27	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	L	0.51422	1.61	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.978	T	0.72494	-0.4276	10	0.72032	D	0.01	.	13.3568	0.60633	1.0:0.0:0.0:0.0	.	17;17	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	A	17	ENSP00000384182:V17A;ENSP00000373592:V17A	ENSP00000373592:V17A	V	-	2	0	SCFD2	53926816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.218000	0.72224	2.317000	0.78254	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	1	0	1	59	283	2	50	0	5.779635e-01	4	25	2	50	5		0	0	0	0	0	2	1	9.997898e-01	59	281	2	49	29								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FIP1L1	81608	broad.mit.edu	37	4	54265951	54265951	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54265951A>C	ENST00000337488.6	+	10	954	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	FIP1L1_ENST00000507166.1_Missense_Mutation_p.K254Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1			6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		TCCATCTACAAAAGCTGAGTT	0.388000			T	PDGFRA	idiopathic hypereosinophilic syndrome										Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0							SO:0001583	missense			ENST00000337488.6	1	1	hg19	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609676	0.87258	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.48642	1.525	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;0.999;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.996;0.985;0.997;0.999	T	0.54629	-0.8265	10	0.20046	T	0.44	-23.9796	15.6962	0.77502	1.0:0.0:0.0:0.0	.	239;58;239;216;254;239	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	Q	254;239;239;216;254	ENSP00000336752:K254Q;ENSP00000351383:K239Q;ENSP00000425456:K239Q;ENSP00000302993:K216Q;ENSP00000423325:K254Q	ENSP00000302993:K216Q	K	+	1	0	FIP1L1	53960708	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.641000	0.83368	2.168000	0.68352	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	1	0	1	70	354	0	102	1	1	31	174	0	102	2		0	0	0	0	0	2	1	1	66	347	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FIP1L1	81608	broad.mit.edu	37	4	54319276	54319276	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54319276G>T	ENST00000337488.6	+	16	1669	c.1475G>T	c.(1474-1476)aGt>aTt	p.S492I	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1			6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		CGTGATCACAGTCCTACACCA	0.438000			T	PDGFRA	idiopathic hypereosinophilic syndrome										Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0							SO:0001583	missense			ENST00000337488.6	1	1	hg19	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397827	0.83120	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T	0.23348	1.91;1.91;2.44	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.64830	0.994;0.99;0.994;0.99	D;D;D;D	0.71870	0.975;0.944;0.975;0.962	T	0.46762	-0.9168	10	0.87932	D	0	-18.3904	19.2835	0.94061	0.0:0.0:1.0:0.0	.	486;486;418;492	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	I	492;486;418;149	ENSP00000336752:S492I;ENSP00000351383:S486I;ENSP00000302993:S418I	ENSP00000302993:S418I	S	+	2	0	FIP1L1	54014033	1.000000	0.71417	0.965000	0.40720	0.791000	0.44710	7.484000	0.81180	2.641000	0.89580	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	1	0	1	70	310	0	57	1	1	84	178	0	57	2		0	0	0	0	0	2	1	1	70	294	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LNX1	84708	broad.mit.edu	37	4	54343147	54343147	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54343147A>G	ENST00000263925.7	-	9	1979	c.1665T>C	c.(1663-1665)ggT>ggC	p.G555G	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Splice_Site_p.G459G	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase			32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		ACAAAATGTCACCTGATGGCC	0.483000																								0							SO:0001630	splice_region_variant			ENST00000263925.7	1	0	hg19	CCDS47057.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2	1	0	1	97	424	0	116	1	9.920777e-01	17	18	0	116	2		0	0	0	0	0	2	1	1	95	418	0	115	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSX2	170825	broad.mit.edu	37	4	54966712	54966712	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54966712G>A	ENST00000326902.2	+	1	515	c.201G>A	c.(199-201)tcG>tcA	p.S67S	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Silent_p.S67S	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2			6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)		GCGTCACTTCGCACCTGCACT	0.751000																								0							SO:0001819	synonymous_variant			ENST00000326902.2	0	1	hg19	CCDS3494.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	0	0	0	20	71	0	20	0	5.284832e-02	0	2	0	20	2		0	0	0	0	0	2	1	9.999979e-01	20	70	0	19	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
GSX2	170825	broad.mit.edu	37	4	54967769	54967769	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54967769G>T	ENST00000326902.2	+	2	909	c.595G>T	c.(595-597)Gta>Tta	p.V199L	FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_Missense_Mutation_p.R128S	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2			6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)		CGCCAGCCAGGTACCCAATGG	0.587000																								0							SO:0001583	missense			ENST00000326902.2	0	1	hg19	CCDS3494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.120|4.120	0.020448|0.020448	0.08006|0.08006	.|.	.|.	ENSG00000180613|ENSG00000180613	ENST00000503800|ENST00000326902	T|D	0.44881|0.95447	0.91|-3.71	4.9|4.9	3.97|3.97	0.46021|0.46021	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.599177	.|0.17438	.|N	.|0.174220	D|D	0.84763|0.84763	0.5544|0.5544	N|N	0.04508|0.04508	-0.205|-0.205	0.20196|0.20196	N|N	0.99992|0.99992	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.71210|0.71210	-0.4660|-0.4660	7|10	0.23302|0.10902	T|T	0.38|0.67	.|.	6.1955|6.1955	0.20548|0.20548	0.1326:0.1976:0.6698:0.0|0.1326:0.1976:0.6698:0.0	.|.	.|199	.|Q9BZM3	.|GSX2_HUMAN	S|L	128|199	ENSP00000422213:R128S|ENSP00000319118:V199L	ENSP00000422213:R128S|ENSP00000319118:V199L	R|V	+|+	3|1	2|0	GSX2|GSX2	54662526|54662526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.948000|0.948000	0.59901|0.59901	2.792000|2.792000	0.47837|0.47837	2.535000|2.535000	0.85469|0.85469	0.484000|0.484000	0.47621|0.47621	AGG|GTA		TCGA-IB-7651-01A-11D-2154-08	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	0	0	0	11	275	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	9.983583e-01	11	273	0	71	2								-12.281310	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.470000	0.250000	1.000000	0.440000	0.513651	0.470000	0	3.400000e-01	6.600000e-01
PDGFRA	5156	broad.mit.edu	37	4	55140704	55140704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55140704G>A	ENST00000257290.5	+	11	1896	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide			967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)	Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTAGCCCTGCGTTCTGAACTC	0.498000			Mis, O, T	FIP1L1	GIST, idiopathic hypereosinophilic syndrome, paediatric GBM				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	platelet-derived growth factor, alpha-receptor		L, M, O	0							SO:0001583	missense	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	ENST00000257290.5	1	1	hg19	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130862	0.21041	.	.	ENSG00000134853	ENST00000257290	T	0.76186	-1.0	6.07	4.37	0.52481	.	0.000000	0.31542	U	0.007464	T	0.51941	0.1704	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.06405	0.002;0.001	T	0.41520	-0.9504	10	0.10902	T	0.67	.	12.8769	0.57996	0.131:0.0:0.869:0.0	.	522;522	P16234-3;P16234	.;PGFRA_HUMAN	H	522	ENSP00000257290:R522H	ENSP00000257290:R522H	R	+	2	0	PDGFRA	54835461	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	3.232000	0.51302	0.908000	0.36671	-0.150000	0.13652	CGT		TCGA-IB-7651-01A-11D-2154-08	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	1	0	1	101	412	0	78	0	1	0	245	0	78	2		0	0	0	0	0	2	1	1	99	405	0	77	2								-20.000000	1	1	121412	3	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDGFRA	5156	broad.mit.edu	37	4	55156501	55156501	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156501G>A	ENST00000257290.5	+	22	3233	c.2902G>A	c.(2902-2904)Gac>Aac	p.D968N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D728N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide			967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)	Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AATTCACCTGGACTTCCTGAA	0.393000			Mis, O, T	FIP1L1	GIST, idiopathic hypereosinophilic syndrome, paediatric GBM				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	platelet-derived growth factor, alpha-receptor		L, M, O	0							SO:0001583	missense	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	ENST00000257290.5	0	1	hg19	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561135	0.86335	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78003	-1.14;-0.95	5.9	5.05	0.67936	.	0.000000	0.33813	U	0.004525	D	0.82379	0.5024	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.59825	0.864	T	0.79014	-0.1976	10	0.15066	T	0.55	.	17.0757	0.86585	0.0:0.127:0.873:0.0	.	968	P16234	PGFRA_HUMAN	N	728;968	ENSP00000423325:D728N;ENSP00000257290:D968N	ENSP00000423325:D728N	D	+	1	0	FIP1L1;PDGFRA	54851258	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.473000	0.81007	1.495000	0.48549	-0.181000	0.13052	GAC		TCGA-IB-7651-01A-11D-2154-08	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	0	0	0	12	305	0	83	0	9.994273e-01	0	337	0	83	2		0	0	0	0	0	2	1	9.989612e-01	11	295	0	83	2								-12.866560	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.460000	0.250000	1.000000	0.440000	0.504370	0.460000	0	3.400000e-01	6.400000e-01
PDGFRA	5156	broad.mit.edu	37	4	55156639	55156639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156639G>A	ENST00000257290.5	+	22	3371	c.3040G>A	c.(3040-3042)Gct>Act	p.A1014T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	p.A1014_S1016delADS(2)		967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)	Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAGACTGAGCGCTGACAGTGG	0.557000			Mis, O, T	FIP1L1	GIST, idiopathic hypereosinophilic syndrome, paediatric GBM				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	platelet-derived growth factor, alpha-receptor		L, M, O	2	Deletion - In frame(2)						SO:0001583	missense	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	ENST00000257290.5	1	0	hg19	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123092	0.56613	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77229	-1.08;-0.9	5.93	5.08	0.68730	.	0.000000	0.31976	U	0.006774	T	0.60792	0.2296	L	0.36672	1.1	0.80722	D	1	P	0.40360	0.714	B	0.24541	0.054	T	0.62058	-0.6934	10	0.11182	T	0.66	.	14.5376	0.67971	0.0697:0.0:0.9303:0.0	.	1014	P16234	PGFRA_HUMAN	T	774;1014	ENSP00000423325:A774T;ENSP00000257290:A1014T	ENSP00000423325:A774T	A	+	1	0	FIP1L1;PDGFRA	54851396	1.000000	0.71417	0.854000	0.33618	0.934000	0.57294	5.717000	0.68446	2.814000	0.96858	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	0	0	1	104	448	0	91	0	1	0	420	0	91	2		0	0	0	0	0	2	1	1	104	435	0	91	2								-20.000000	1	1	121412	2	37	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIT	3815	broad.mit.edu	37	4	55565810	55565810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55565810C>T	ENST00000288135.5	+	4	731	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog			6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGCTGTGCCTGTTGTGTC	0.388000		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	L, M, O, E	0							SO:0001583	missense	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	ENST00000288135.5	1	1	hg19	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985470	0.53934	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.88124	-2.34;-2.34	5.74	5.74	0.90152	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	D	0.93341	0.7877	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93277	0.6657	10	0.59425	D	0.04	.	18.0955	0.89488	0.0:1.0:0.0:0.0	.	212;212	P10721-2;P10721	.;KIT_HUMAN	S	212	ENSP00000288135:P212S;ENSP00000390987:P212S	ENSP00000288135:P212S	P	+	1	0	KIT	55260567	0.972000	0.33761	0.180000	0.23079	0.237000	0.25408	4.715000	0.61909	2.707000	0.92482	0.557000	0.71058	CCT		TCGA-IB-7651-01A-11D-2154-08	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1	1	0	1	61	302	0	63	0	9.798455e-01	0	33	0	63	2		0	0	0	0	0	2	1	1	60	299	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIT	3815	broad.mit.edu	37	4	55569916	55569916	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55569916C>A	ENST00000288135.5	+	5	880	c.783C>A	c.(781-783)agC>agA	p.S261R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog			6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATATAATAGCTGGCATCACG	0.343000		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	L, M, O, E	0							SO:0001583	missense	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	ENST00000288135.5	1	1	hg19	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893441	0.52121	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.21031	2.03;2.03	5.24	4.41	0.53225	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.076622	0.56097	D	0.000031	T	0.41834	0.1176	M	0.68952	2.095	0.41590	D	0.988792	P;D	0.76494	0.807;0.999	B;D	0.74348	0.206;0.983	T	0.26121	-1.0112	10	0.40728	T	0.16	.	12.3268	0.55015	0.0:0.9225:0.0:0.0775	.	261;261	P10721-2;P10721	.;KIT_HUMAN	R	261	ENSP00000288135:S261R;ENSP00000390987:S261R	ENSP00000288135:S261R	S	+	3	2	KIT	55264673	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	2.267000	0.43329	1.468000	0.48064	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1	1	0	1	33	250	0	66	0	9.588685e-01	0	42	0	66	2		0	0	0	0	0	2	1	1	33	245	0	66	2								-14.150580	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.980000	1.000000	1.000000	0.997987	0.990000	1	9.900000e-01	1
KIT	3815	broad.mit.edu	37	4	55597497	55597497	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55597497C>T	ENST00000288135.5	+	15	2242	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	p.S715del(7)		6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458000		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	L, M, O, E	7	Deletion - In frame(7)						SO:0001819	synonymous_variant	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	ENST00000288135.5	1	1	hg19	CCDS3496.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1	1	0	1	36	184	0	41	0	9.783055e-01	0	34	0	41	2		0	0	0	0	0	2	1	1	36	181	0	41	2								-20.000000	1	1	121412	6	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
KIT	3815	broad.mit.edu	37	4	55602902	55602902	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55602902C>A	ENST00000288135.5	+	19	2709	c.2612C>A	c.(2611-2613)cCt>cAt	p.P871H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog			6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCCTATCCTGGAATGCCG	0.458000		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	L, M, O, E	0							SO:0001583	missense	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	ENST00000288135.5	1	1	hg19	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454276	0.63290	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.90164	0.6926	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90602	0.4545	10	0.87932	D	0	.	19.6056	0.95580	0.0:1.0:0.0:0.0	.	867;871	P10721-2;P10721	.;KIT_HUMAN	H	871;867	ENSP00000288135:P871H;ENSP00000390987:P867H	ENSP00000288135:P871H	P	+	2	0	KIT	55297659	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	5.943000	0.70211	2.625000	0.88918	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1	1	0	1	70	330	0	83	0	9.978847e-01	0	46	0	83	2		0	0	0	0	0	2	1	1	70	324	0	82	2								-2.893120	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVC2	132884	broad.mit.edu	37	4	5564829	5564829	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5564829T>C	ENST00000344408.5	-	22	3726	c.3673A>G	c.(3673-3675)Aca>Gca	p.T1225A	EVC2_ENST00000310917.2_Missense_Mutation_p.T1145A|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2			81					GGGAGACATGTCTTCTTTAAT	0.443000																								0							SO:0001583	missense			ENST00000344408.5	1	1	hg19	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.328128	0.01309	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74106	-0.81;-0.81	5.32	-4.61	0.03380	.	0.635267	0.15377	N	0.265509	T	0.48150	0.1484	L	0.27053	0.805	0.24101	N	0.995872	B	0.15473	0.013	B	0.10450	0.005	T	0.36529	-0.9744	10	0.14252	T	0.57	-1.3604	2.4096	0.04421	0.1119:0.1471:0.3375:0.4035	.	1225	Q86UK5	LBN_HUMAN	A	1145;1225	ENSP00000311683:T1145A;ENSP00000342144:T1225A	ENSP00000311683:T1145A	T	-	1	0	EVC2	5615730	0.005000	0.15991	0.008000	0.14137	0.272000	0.26649	-0.562000	0.05950	-1.038000	0.03279	-1.966000	0.00469	ACA		TCGA-IB-7651-01A-11D-2154-08	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	1	0	1	154	527	0	138	0	7.907163e-01	0	12	0	138	2		0	0	0	0	0	2	1	1	153	520	0	136	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVC2	132884	broad.mit.edu	37	4	5586544	5586544	+	Missense_Mutation	SNP	G	G	A	rs116502852	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5586544G>A	ENST00000344408.5	-	17	2916	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	EVC2_ENST00000310917.2_Missense_Mutation_p.R875W|EVC2_ENST00000344938.1_Missense_Mutation_p.R955W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2			81					GCCTCCATCCGCTGCACTCTC	0.607000																								0							SO:0001583	missense			ENST00000344408.5	1	0	hg19	CCDS3382.2	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	G	15.36	2.809284	0.50421	0.018838	1.16E-4	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74737	-0.87;-0.86;-0.87	4.95	3.12	0.35913	.	0.432330	0.24552	N	0.037551	T	0.50086	0.1595	N	0.19112	0.55	0.31202	N	0.699674	D	0.69078	0.997	P	0.50490	0.642	T	0.63014	-0.6731	10	0.37606	T	0.19	-17.2626	11.6721	0.51408	0.0:0.0:0.6665:0.3335	.	955	Q86UK5	LBN_HUMAN	W	955;875;955	ENSP00000339954:R955W;ENSP00000311683:R875W;ENSP00000342144:R955W	ENSP00000311683:R875W	R	-	1	2	EVC2	5637445	1.000000	0.71417	0.981000	0.43875	0.257000	0.26127	2.253000	0.43205	0.532000	0.28657	-0.399000	0.06403	CGG		TCGA-IB-7651-01A-11D-2154-08	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	0	0	1	59	267	1	64	0	6.197070e-01	0	17	1	64	3		0	0	0	0	0	2	1	9.999999e-01	58	264	1	64	17								-2.895930	1	1	121412	205	54	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDR	3791	broad.mit.edu	37	4	55987321	55987321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55987321C>A	ENST00000263923.4	-	2	399	c.104G>T	c.(103-105)aGc>aTc	p.S35I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)			135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)	Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGTATGCTGAGCCTGGG	0.348000			Mis		NSCLC, angiosarcoma					TSP Lung(20;0.16)					Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0							SO:0001583	missense			ENST00000263923.4	1	1	hg19	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476757	0.44044	.	.	ENSG00000128052	ENST00000263923	T	0.35236	1.32	5.83	4.99	0.66335	Immunoglobulin-like fold (1);	0.086710	0.85682	D	0.000000	T	0.59649	0.2209	M	0.76328	2.33	0.48185	D	0.9996	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.889	T	0.64158	-0.6473	10	0.72032	D	0.01	.	13.211	0.59825	0.0:0.9264:0.0:0.0736	.	35;35	P35968-2;P35968	.;VGFR2_HUMAN	I	35	ENSP00000263923:S35I	ENSP00000263923:S35I	S	-	2	0	KDR	55682078	1.000000	0.71417	0.987000	0.45799	0.320000	0.28249	2.945000	0.49043	1.478000	0.48253	-0.142000	0.14014	AGC		TCGA-IB-7651-01A-11D-2154-08	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1	1	0	1	61	245	0	56	0	9.556325e-01	0	23	0	56	2		0	0	0	0	0	2	1	1	60	241	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVC2	132884	broad.mit.edu	37	4	5620298	5620298	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5620298G>A	ENST00000344408.5	-	15	2666	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	EVC2_ENST00000310917.2_Silent_p.I791I|EVC2_ENST00000344938.1_Silent_p.I871I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2			81					CTCGGGCCCGGATCTTGGGGA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000344408.5	1	1	hg19	CCDS3382.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	1	0	1	34	149	0	38	0	8.688914e-01	0	18	0	38	2		0	0	0	0	0	2	1	1	34	146	0	37	2								-20.000000	1	1	121412	1	31	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SRD5A3	79644	broad.mit.edu	37	4	56236230	56236230	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56236230G>T	ENST00000264228.4	+	5	1157	c.929G>T	c.(928-930)aGg>aTg	p.R310M	SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3			12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)	Spironolactone(DB00421)	CCGAAGCATAGGAAAGCTTTC	0.433000																								0							SO:0001583	missense			ENST00000264228.4	1	1	hg19	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568963	0.65765	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.61158	0.13;0.13	5.69	5.69	0.88448	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89071	0.3469	10	0.87932	D	0	-25.3173	19.8051	0.96529	0.0:0.0:1.0:0.0	.	310	Q9H8P0	PORED_HUMAN	M	310;174	ENSP00000264228:R310M;ENSP00000424714:R174M	ENSP00000264228:R310M	R	+	2	0	SRD5A3	55930987	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	9.624000	0.98398	2.702000	0.92279	0.591000	0.81541	AGG		TCGA-IB-7651-01A-11D-2154-08	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	1	0	1	136	575	0	129	1	1	89	153	0	129	2		0	0	0	0	0	2	1	1	132	560	0	128	2								-2.957160	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM165	55858	broad.mit.edu	37	4	56277926	56277926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56277926C>T	ENST00000381334.5	+	2	586	c.353C>T	c.(352-354)gCc>gTc	p.A118V	Y_RNA_ENST00000459077.1_RNA|TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165			4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		TTTATAGCAGCCATCATGGCA	0.448000																								0							SO:0001583	missense			ENST00000381334.5	1	1	hg19	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366242	0.95900	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.82255	-1.59;-1.59	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.979;1.0	D	0.90158	0.4226	10	0.54805	T	0.06	-16.7347	19.3813	0.94536	0.0:1.0:0.0:0.0	.	55;118	B4DHW1;Q9HC07	.;TM165_HUMAN	V	118;55	ENSP00000370736:A118V;ENSP00000437816:A55V	ENSP00000370736:A118V	A	+	2	0	TMEM165	55972683	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.288000	0.78691	2.798000	0.96311	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	1	0	1	53	201	0	53	1	1	80	191	0	53	2		0	0	0	0	0	2	1	1	53	197	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM165	55858	broad.mit.edu	37	4	56283999	56283999	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56283999G>A	ENST00000381334.5	+	4	872	c.639G>A	c.(637-639)ccG>ccA	p.P213P	TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165			4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		TAAATGGACCGGGAGATGTTG	0.333000																								0							SO:0001819	synonymous_variant			ENST00000381334.5	1	1	hg19	CCDS3499.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	1	0	1	37	148	0	27	1	1	169	519	0	27	2		0	0	0	0	0	2	1	1	37	141	0	27	2								-3.043910	1	1	121412	2	31	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLOCK	9575	broad.mit.edu	37	4	56304679	56304679	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56304679T>C	ENST00000309964.4	-	21	2381	c.2131A>G	c.(2131-2133)Acc>Gcc	p.T711A	CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A|CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator			38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		ACTAATTTGGTCACAAGTTGT	0.408000																								0							SO:0001583	missense			ENST00000309964.4	1	1	hg19	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477432	0.63849	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05447	3.44;3.44;3.44	5.73	5.73	0.89815	.	0.093123	0.85682	D	0.000000	T	0.19525	0.0469	M	0.76574	2.34	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.00356	-1.1793	9	.	.	.	.	16.0255	0.80541	0.0:0.0:0.0:1.0	.	711	O15516	CLOCK_HUMAN	A	711	ENSP00000308741:T711A;ENSP00000370723:T711A;ENSP00000426983:T711A	.	T	-	1	0	CLOCK	55999436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.195000	0.70347	0.477000	0.44152	ACC		TCGA-IB-7651-01A-11D-2154-08	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	1	0	1	32	184	0	67	1	7.413305e-01	2	15	0	67	2		0	0	0	0	0	2	1	1	32	180	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999941	0.990000	1	9.900000e-01	1
CLOCK	9575	broad.mit.edu	37	4	56310933	56310933	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56310933A>C	ENST00000309964.4	-	18	1809	c.1559T>G	c.(1558-1560)tTa>tGa	p.L520*	CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator			38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		CATGGCTCCTAATTGAGCTGA	0.343000																								0							SO:0001587	stop_gained			ENST00000309964.4	0	1	hg19	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	45	11.808693	0.99605	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.93	5.93	0.95920	.	0.317300	0.32533	N	0.005963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	.	.	.	X	520	.	ENSP00000308741:L520X	L	-	2	0	CLOCK	56005690	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	8.730000	0.91510	2.270000	0.75569	0.460000	0.39030	TTA		TCGA-IB-7651-01A-11D-2154-08	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	1	0	0	47	199	0	41	0	9.960549e-01	0	39	0	41	2		0	0	0	0	0	2	1	1	47	198	0	41	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVC2	132884	broad.mit.edu	37	4	5633732	5633732	+	Missense_Mutation	SNP	G	G	A	rs148248777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5633732G>A	ENST00000344408.5	-	11	1551	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	EVC2_ENST00000310917.2_Missense_Mutation_p.R420W|EVC2_ENST00000344938.1_Missense_Mutation_p.R500W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2			81					TGGAGGGTCCGCAGAAGGTTG	0.512000																								0							SO:0001583	missense			ENST00000344408.5	1	1	hg19	CCDS3382.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.34	2.207709	0.39003	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78481	-1.18;-1.18;-1.18	4.79	1.85	0.25348	.	0.170692	0.39985	N	0.001208	D	0.82296	0.5006	L	0.57536	1.79	0.35279	D	0.781174	D	0.89917	1.0	D	0.73708	0.981	D	0.84025	0.0356	10	0.72032	D	0.01	-44.7623	7.5351	0.27706	0.0:0.3201:0.434:0.2458	.	500	Q86UK5	LBN_HUMAN	W	500;420;500	ENSP00000339954:R500W;ENSP00000311683:R420W;ENSP00000342144:R500W	ENSP00000311683:R420W	R	-	1	2	EVC2	5684633	1.000000	0.71417	0.979000	0.43373	0.032000	0.12392	1.242000	0.32755	0.516000	0.28340	0.505000	0.49811	CGG		TCGA-IB-7651-01A-11D-2154-08	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	1	0	1	47	246	0	60	0	6.438098e-01	0	13	0	60	2		0	0	0	0	0	2	1	1	47	243	0	59	2								-3.339654	1	1	121412	4	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CLOCK	9575	broad.mit.edu	37	4	56345083	56345083	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56345083A>C	ENST00000309964.4	-	5	405	c.155T>G	c.(154-156)gTt>gGt	p.V52G	CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G|CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G|CLOCK_ENST00000506923.1_5'UTR	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator			38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		tttaatgagaacattAAATTG	0.299000																								0							SO:0001583	missense			ENST00000309964.4	1	1	hg19	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817389	0.90790	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	D;D;D	0.97831	-4.56;-4.56;-4.56	6.07	6.07	0.98685	Helix-loop-helix DNA-binding (5);	0.165289	0.53938	D	0.000054	D	0.95771	0.8624	L	0.34521	1.04	0.80722	D	1	B	0.28636	0.218	B	0.33121	0.158	D	0.94396	0.7618	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	52	O15516	CLOCK_HUMAN	G	52	ENSP00000308741:V52G;ENSP00000370723:V52G;ENSP00000426983:V52G	ENSP00000308741:V52G	V	-	2	0	CLOCK	56039840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.324000	0.90005	2.326000	0.78906	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	1	0	1	16	67	0	28	1	9.858793e-01	2	31	0	28	2		0	0	0	0	0	2	1	9.999602e-01	16	66	0	28	2								-12.281840	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999811	0.990000	1	9.900000e-01	1
CLOCK	9575	broad.mit.edu	37	4	56348963	56348963	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56348963G>A	ENST00000309964.4	-	0	240				CLOCK_ENST00000381322.1_De_novo_Start_InFrame|CLOCK_ENST00000513440.1_De_novo_Start_InFrame|CLOCK_ENST00000506923.1_5'UTR	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator			38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		AACATACTACGTTTTCGTCTT	0.284000																								0											ENST00000309964.4	0	1	hg19	CCDS3500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	0	0	0	22	91	0	22	1	9.266511e-01	2	19	0	22	2		0	0	0	0	0	2	1	9.999994e-01	22	90	0	22	2								-20.000000	1	1	121384	2	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
EXOC1	55763	broad.mit.edu	37	4	56770575	56770575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56770575C>T	ENST00000381295.2	+	19	2947	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C|EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	p.R867C(1)		35	Glioma(25;0.08)|all_neural(26;0.101)				TTTGATAGCTCGCTGTTATCC	0.383000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000381295.2	1	1	hg19	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927465	0.73327	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.26	5.26	0.73747	.	0.053203	0.64402	D	0.000001	T	0.76364	0.3977	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.66716	0.87;0.946	T	0.79145	-0.1924	9	0.87932	D	0	.	13.7799	0.63077	0.1536:0.8464:0.0:0.0	.	852;867	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	C	867;867;852	.	ENSP00000326514:R867C	R	+	1	0	EXOC1	56465332	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.605000	0.61119	2.437000	0.82529	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	1	0	1	98	399	0	97	1	1	54	126	0	97	2		0	0	0	0	0	2	1	1	98	389	0	96	2								-3.184739	1	1	121404	1	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP135	9662	broad.mit.edu	37	4	56831839	56831839	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56831839C>T	ENST00000257287.4	+	8	982	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa			50	Glioma(25;0.08)|all_neural(26;0.101)				CTAATAAAGACCTGGAGAAGC	0.328000																								0							SO:0001819	synonymous_variant			ENST00000257287.4	1	1	hg19	CCDS33986.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	1	0	1	39	155	0	36	1	6.302389e-01	2	8	0	36	2		0	0	0	0	0	2	1	1	38	151	0	36	2								-19.999960	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP135	9662	broad.mit.edu	37	4	56846364	56846364	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56846364G>A	ENST00000257287.4	+	12	1653	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa			50	Glioma(25;0.08)|all_neural(26;0.101)				GAACTTCAGCGTATGCTAGAA	0.289000																								0							SO:0001583	missense			ENST00000257287.4	1	1	hg19	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	6.379	0.437961	0.12104	2.27E-4	0.0	ENSG00000174799	ENST00000257287	T	0.44881	0.91	5.87	-1.2	0.09554	.	0.926115	0.09460	N	0.799163	T	0.30386	0.0763	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26224	-1.0109	10	0.41790	T	0.15	.	8.4725	0.32993	0.5889:0.1833:0.2278:0.0	.	510	Q66GS9	CP135_HUMAN	H	510	ENSP00000257287:R510H	ENSP00000257287:R510H	R	+	2	0	CEP135	56541121	0.003000	0.15002	0.031000	0.17742	0.916000	0.54674	0.133000	0.15912	-0.254000	0.09500	-0.137000	0.14449	CGT		TCGA-IB-7651-01A-11D-2154-08	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	1	0	1	61	284	0	97	1	4.949571e-01	2	7	0	97	2		0	0	0	0	0	2	1	1	58	280	0	96	2								-20.000000	1	1	121388	3	35	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1211	57482	broad.mit.edu	37	4	57173854	57173854	+	Missense_Mutation	SNP	G	G	A	rs35378328	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57173854G>A	ENST00000504228.1	+	3	379	c.274G>A	c.(274-276)Gca>Aca	p.A92T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A92T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A85T			Q6ZU35	K1211_HUMAN	KIAA1211			65	Glioma(25;0.08)|all_neural(26;0.101)				CCTCTCAGACGCAGAGAACAA	0.522000																								0							SO:0001583	missense			ENST00000504228.1	1	0	hg19	CCDS43230.1	16	0.007326007326007326	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	13	0.017150395778364115	G	0.012	-1.690868	0.00738	0.00383	0.019129	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.10382	2.88;2.88;2.96	5.5	-11.0	0.00169	.	.	.	.	.	T	0.00524	0.0017	N	0.00082	-2.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28681	-1.0036	9	0.02654	T	1	-2.7146	0.9717	0.01417	0.191:0.2667:0.2836:0.2587	rs35378328	85;92	F5H1N7;Q6ZU35	.;K1211_HUMAN	T	92;92;85	ENSP00000264229:A92T;ENSP00000423366:A92T;ENSP00000444006:A85T	ENSP00000264229:A92T	A	+	1	0	KIAA1211	56868611	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.182000	0.09726	-2.486000	0.00520	-2.484000	0.00197	GCA		TCGA-IB-7651-01A-11D-2154-08	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	0	0	1	46	160	0	50	1	9.999936e-01	27	40	0	50	2		0	0	0	0	0	2	1	1	44	155	0	50	2								-1.656651	0	1	120904	1318	61	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1211	57482	broad.mit.edu	37	4	57179456	57179456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179456G>A	ENST00000504228.1	+	5	553	c.448G>A	c.(448-450)Gct>Act	p.A150T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T			Q6ZU35	K1211_HUMAN	KIAA1211			65	Glioma(25;0.08)|all_neural(26;0.101)				CCTGGCCATCGCTCGCCTGGA	0.552000																								0							SO:0001583	missense			ENST00000504228.1	1	1	hg19	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301535	0.60195	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.14640	2.49;2.49;2.52	5.4	3.64	0.41730	.	.	.	.	.	T	0.16471	0.0396	M	0.69823	2.125	0.36295	D	0.856633	P;P;P	0.51653	0.947;0.861;0.861	B;B;B	0.42319	0.383;0.123;0.123	T	0.17837	-1.0356	9	0.52906	T	0.07	-15.0899	7.9937	0.30256	0.1378:0.1383:0.7239:0.0	.	143;143;150	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	150;150;143;60	ENSP00000264229:A150T;ENSP00000423366:A150T;ENSP00000444006:A143T	ENSP00000264229:A150T	A	+	1	0	KIAA1211	56874213	0.999000	0.42202	0.978000	0.43139	0.951000	0.60555	3.380000	0.52448	1.261000	0.44149	0.491000	0.48974	GCT		TCGA-IB-7651-01A-11D-2154-08	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	0	0	1	28	825	0	142	1	7.139829e-01	9	66	0	142	2		0	0	0	0	0	2	1	1	27	814	0	141	2								-2.783022	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.390000	0.260000	1.000000	0.390000	0.432688	0.390000	0	3.200000e-01	4.900000e-01
KIAA1211	57482	broad.mit.edu	37	4	57193927	57193927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57193927G>T	ENST00000504228.1	+	9	3764	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M			Q6ZU35	K1211_HUMAN	KIAA1211			65	Glioma(25;0.08)|all_neural(26;0.101)				TTGGCCAAAAGGAAAGCAAAG	0.532000																								0							SO:0001583	missense			ENST00000504228.1	1	1	hg19	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009568	0.93346	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.78595	-1.19;-1.19;-1.19	5.69	5.69	0.88448	.	.	.	.	.	D	0.87497	0.6192	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87873	0.2672	9	0.87932	D	0	-14.174	19.817	0.96573	0.0:0.0:1.0:0.0	.	1213;1220	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1220;1220;1213	ENSP00000264229:R1220M;ENSP00000423366:R1220M;ENSP00000444006:R1213M	ENSP00000264229:R1220M	R	+	2	0	KIAA1211	56888684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.678000	0.91216	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	0	0	1	160	696	1	167	1	9.998587e-01	32	47	1	167	4		0	0	0	0	0	2	1	1	154	684	1	167	18								-2.828965	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AASDH	132949	broad.mit.edu	37	4	57215710	57215710	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57215710C>G	ENST00000205214.6	-	11	2387	c.2207G>C	c.(2206-2208)tGt>tCt	p.C736S	AASDH_ENST00000451613.1_Missense_Mutation_p.C736S|AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S|AASDH_ENST00000602986.1_Missense_Mutation_p.C583S|AASDH_ENST00000513376.1_Missense_Mutation_p.C636S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase			40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)			TTTTGCAACACAGGATGGATC	0.428000																								0							SO:0001583	missense			ENST00000205214.6	1	1	hg19	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	0.620	-0.821413	0.02755	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.61742	0.08;0.22;2.4;0.66;0.67	4.91	2.05	0.26809	.	0.754197	0.12944	N	0.426341	T	0.44201	0.1282	L	0.46157	1.445	0.20196	N	0.999926	B;B;B;B	0.20261	0.043;0.003;0.006;0.001	B;B;B;B	0.17722	0.019;0.004;0.009;0.001	T	0.26849	-1.0091	10	0.18276	T	0.48	-3.9224	5.9473	0.19225	0.116:0.5845:0.2189:0.0806	.	583;736;736;736	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	S	736;636;251;736;583;736	ENSP00000205214:C736S;ENSP00000423760:C636S;ENSP00000392158:C251S;ENSP00000409656:C736S;ENSP00000421171:C736S	ENSP00000205214:C736S	C	-	2	0	AASDH	56910467	0.000000	0.05858	0.068000	0.19968	0.035000	0.12851	-0.454000	0.06770	0.637000	0.30526	-0.284000	0.09977	TGT		TCGA-IB-7651-01A-11D-2154-08	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	1	0	0	43	561	0	112	0	6.072258e-01	0	28	0	112	2		0	0	0	0	0	2	1	1	43	551	0	112	2								-10.262060	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.850000	0.620000	1.000000	1.000000	0.852969	0.850000	1	7.200000e-01	1
AASDH	132949	broad.mit.edu	37	4	57244420	57244420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57244420G>T	ENST00000205214.6	-	4	742	c.562C>A	c.(562-564)Cta>Ata	p.L188I	AASDH_ENST00000451613.1_Missense_Mutation_p.L188I|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I|AASDH_ENST00000602986.1_Missense_Mutation_p.L35I|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.L88I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase			40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)			CAATGCTTTAGCCTCAGATCC	0.368000																								0							SO:0001583	missense			ENST00000205214.6	1	1	hg19	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	9.060	0.994318	0.19043	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.49432	0.78;1.01;2.85;0.78	5.95	1.76	0.24704	AMP-dependent synthetase/ligase (1);	2.018060	0.02117	N	0.055319	T	0.47414	0.1444	L	0.52011	1.625	0.09310	N	1	B;P;B;B	0.36125	0.279;0.538;0.396;0.45	B;B;B;B	0.35859	0.053;0.178;0.192;0.212	T	0.46610	-0.9179	10	0.37606	T	0.19	2.3294	12.1516	0.54053	0.0746:0.5225:0.4029:0.0	.	35;188;188;188	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	I	188;88;188;35;188	ENSP00000205214:L188I;ENSP00000423760:L88I;ENSP00000409656:L188I;ENSP00000421171:L188I	ENSP00000205214:L188I	L	-	1	2	AASDH	56939177	0.001000	0.12720	0.050000	0.19076	0.453000	0.32348	0.815000	0.27253	0.827000	0.34685	-0.175000	0.13238	CTA		TCGA-IB-7651-01A-11D-2154-08	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	1	0	1	111	437	0	76	1	9.669660e-01	7	17	0	76	2		0	0	0	0	0	2	1	1	108	422	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPAT	5471	broad.mit.edu	37	4	57266984	57266984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57266984G>A	ENST00000264220.2	-	8	1117	c.980C>T	c.(979-981)tCt>tTt	p.S327F	PPAT_ENST00000507648.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase			20	Glioma(25;0.08)|all_neural(26;0.101)			Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	AGGCGTAGCAGATTCTGGAAC	0.458000																								0							SO:0001583	missense			ENST00000264220.2	1	1	hg19	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069123	0.93950	.	.	ENSG00000128059	ENST00000264220	D	0.99418	-5.87	5.64	5.64	0.86602	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.98646	4.29	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.97111	0.9804	10	0.87932	D	0	-20.5507	19.6933	0.96010	0.0:0.0:1.0:0.0	.	327	Q06203	PUR1_HUMAN	F	327	ENSP00000264220:S327F	ENSP00000264220:S327F	S	-	2	0	PPAT	56961741	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.208000	0.95075	2.662000	0.90505	0.637000	0.83480	TCT		TCGA-IB-7651-01A-11D-2154-08	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	1	0	1	144	603	0	146	1	9.992209e-01	18	28	0	146	2		0	0	0	0	0	2	1	1	144	596	0	145	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPAT	5471	broad.mit.edu	37	4	57269561	57269561	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57269561G>A	ENST00000264220.2	-	4	546	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase			20	Glioma(25;0.08)|all_neural(26;0.101)			Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	ATACCATGACGCAGAAGCTAT	0.448000																								0							SO:0001583	missense			ENST00000264220.2	0	1	hg19	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659912	0.67586	.	.	ENSG00000128059	ENST00000264220	T	0.77098	-1.07	5.51	5.51	0.81932	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	P	0.59595	0.86	D	0.88575	0.3132	10	0.62326	D	0.03	-13.6926	19.4001	0.94625	0.0:0.0:1.0:0.0	.	137	Q06203	PUR1_HUMAN	C	137	ENSP00000264220:R137C	ENSP00000264220:R137C	R	-	1	0	PPAT	56964318	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.360000	0.59455	2.593000	0.87608	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	0	0	0	24	235	0	37	1	9.455828e-01	12	38	0	37	2		0	0	0	0	0	2	1	9.999996e-01	24	226	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.730000	1.000000	1.000000	0.965118	0.990000	1	9.000000e-01	1
PAICS	10606	broad.mit.edu	37	4	57325540	57325540	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325540C>A	ENST00000512576.1	+	9	1275	c.1114C>A	c.(1114-1116)Ctt>Att	p.L372I	PAICS_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000514888.1_Missense_Mutation_p.L280I|PAICS_ENST00000264221.2_Missense_Mutation_p.L372I	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase			5	Glioma(25;0.08)|all_neural(26;0.101)			L-Aspartic Acid(DB00128)	ACCAATAGGTCTTGGCTGTTC	0.403000													GBM(53;429 1144 8755 40726)											0							SO:0001583	missense			ENST00000512576.1	1	1	hg19	CCDS47061.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742328	0.49151	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.38401	1.15;1.15;1.14;1.15;1.15	5.05	2.22	0.28083	Phosphoribosylaminoimidazole carboxylase, core (4);	0.194207	0.46145	N	0.000319	T	0.25606	0.0623	N	0.17838	0.53	0.51482	D	0.999922	B;B;B	0.26445	0.149;0.002;0.149	B;B;B	0.33960	0.173;0.009;0.173	T	0.05257	-1.0896	10	0.38643	T	0.18	-5.3966	10.9869	0.47526	0.1347:0.5904:0.2749:0.0	.	372;379;372	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	I	280;372;372;379;372	ENSP00000424907:L280I;ENSP00000264221:L372I;ENSP00000424053:L372I;ENSP00000382595:L379I;ENSP00000421096:L372I	ENSP00000264221:L372I	L	+	1	0	PAICS	57020297	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.515000	0.53429	0.191000	0.20236	0.585000	0.79938	CTT		TCGA-IB-7651-01A-11D-2154-08	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	1	0	1	19	107	0	31	1	1	87	262	0	31	2		0	0	0	0	0	2	1	9.999946e-01	19	107	0	31	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999329	0.990000	1	9.900000e-01	1
PAICS	10606	broad.mit.edu	37	4	57325556	57325556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325556T>C	ENST00000512576.1	+	9	1291	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	PAICS_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000514888.1_Missense_Mutation_p.V285A|PAICS_ENST00000264221.2_Missense_Mutation_p.V377A	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase			5	Glioma(25;0.08)|all_neural(26;0.101)			L-Aspartic Acid(DB00128)	TGTTCAACCGTACTTTCTCCA	0.383000													GBM(53;429 1144 8755 40726)											0							SO:0001583	missense			ENST00000512576.1	1	1	hg19	CCDS47061.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515929	0.44763	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.55413	0.52;0.55;0.56;0.53;0.55	5.05	5.05	0.67936	Phosphoribosylaminoimidazole carboxylase, core (4);	0.319515	0.37304	N	0.002152	T	0.53932	0.1827	M	0.77313	2.365	0.29385	N	0.863062	B;B;B	0.17038	0.02;0.009;0.02	B;B;B	0.27380	0.079;0.025;0.079	T	0.53795	-0.8388	10	0.36615	T	0.2	-11.3974	9.9633	0.41710	0.0:0.0867:0.0:0.9133	.	377;384;377	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	A	285;377;377;384;377	ENSP00000424907:V285A;ENSP00000264221:V377A;ENSP00000424053:V377A;ENSP00000382595:V384A;ENSP00000421096:V377A	ENSP00000264221:V377A	V	+	2	0	PAICS	57020313	0.966000	0.33281	0.990000	0.47175	0.988000	0.76386	5.608000	0.67654	2.036000	0.60181	0.477000	0.44152	GTA		TCGA-IB-7651-01A-11D-2154-08	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	1	0	1	18	109	0	32	1	1	103	192	0	32	2		0	0	0	0	0	2	1	9.999888e-01	18	109	0	32	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998514	0.990000	1	9.900000e-01	1
SRP72	6731	broad.mit.edu	37	4	57366836	57366836	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57366836G>T	ENST00000342756.5	+	18	2534	c.1813G>T	c.(1813-1815)Gca>Tca	p.A605S	SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa			22	Glioma(25;0.08)|all_neural(26;0.101)				GACCCAGGGAGCAACTGCAGG	0.453000																								0							SO:0001583	missense			ENST00000342756.5	1	1	hg19	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234601	0.22626	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.78246	-1.16;-1.14	5.94	4.99	0.66335	.	0.231906	0.43919	D	0.000502	T	0.60612	0.2282	N	0.19112	0.55	0.43091	D	0.994761	B;B	0.21821	0.061;0.008	B;B	0.16289	0.015;0.003	T	0.55717	-0.8097	10	0.23302	T	0.38	.	9.6069	0.39639	0.1236:0.0:0.8764:0.0	.	544;605	G5E9Z8;O76094	.;SRP72_HUMAN	S	605;550;544	ENSP00000342181:A605S;ENSP00000424576:A544S	ENSP00000342181:A605S	A	+	1	0	SRP72	57061593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.681000	0.46926	2.807000	0.96579	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7	1	0	1	43	176	0	56	1	1	150	340	0	56	2		0	0	0	0	0	2	1	1	43	176	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REST	5978	broad.mit.edu	37	4	57776821	57776821	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57776821T>C	ENST00000309042.7	+	2	331	c.17T>C	c.(16-18)aTg>aCg	p.M6T		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor			50	Glioma(25;0.08)|all_neural(26;0.181)				ACCCAGGTAATGGGGCAGTCT	0.448000																								0							SO:0001583	missense			ENST00000309042.7	1	1	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867927	0.72065	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.09255	3.0	5.79	5.79	0.91817	.	0.160766	0.44688	D	0.000440	T	0.10937	0.0267	L	0.44542	1.39	0.39693	D	0.971072	B;P	0.42827	0.066;0.791	B;B	0.35859	0.068;0.212	T	0.03268	-1.1054	10	0.87932	D	0	-22.3791	14.0692	0.64851	0.0:0.0:0.0:1.0	.	6;6	Q13127-2;Q13127	.;REST_HUMAN	T	6	ENSP00000311816:M6T	ENSP00000311816:M6T	M	+	2	0	REST	57471578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.670000	0.74467	2.212000	0.71576	0.459000	0.35465	ATG		TCGA-IB-7651-01A-11D-2154-08	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1	42	156	0	42	1	8.785717e-01	3	13	0	42	2		0	0	0	0	0	2	1	1	42	151	0	42	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REST	5978	broad.mit.edu	37	4	57777141	57777141	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777141A>C	ENST00000309042.7	+	2	651	c.337A>C	c.(337-339)Agt>Cgt	p.S113R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor			50	Glioma(25;0.08)|all_neural(26;0.181)				GGAACTGAGAAGTTTGGAACT	0.433000																								0							SO:0001583	missense			ENST00000309042.7	1	1	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822436	0.32237	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10005	2.92	5.78	0.215	0.15253	.	0.437967	0.23277	N	0.049948	T	0.15305	0.0369	L	0.51422	1.61	0.09310	N	1	P;D	0.63046	0.944;0.992	P;P	0.59487	0.499;0.858	T	0.08722	-1.0708	10	0.66056	D	0.02	-1.9595	1.5661	0.02605	0.5494:0.1094:0.1623:0.179	.	113;113	Q13127-2;Q13127	.;REST_HUMAN	R	113	ENSP00000311816:S113R	ENSP00000311816:S113R	S	+	1	0	REST	57471898	0.008000	0.16893	0.004000	0.12327	0.060000	0.15804	0.307000	0.19296	0.452000	0.26830	-0.250000	0.11733	AGT		TCGA-IB-7651-01A-11D-2154-08	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1	59	325	0	78	1	9.943915e-01	4	42	0	78	2		0	0	0	0	0	2	1	1	56	320	0	78	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REST	5978	broad.mit.edu	37	4	57777432	57777432	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777432G>T	ENST00000309042.7	+	2	942	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor			50	Glioma(25;0.08)|all_neural(26;0.181)				AGAAGAGGGAGATTTCTCCAA	0.493000																								0							SO:0001583	missense			ENST00000309042.7	1	1	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832111	0.71258	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.10099	2.91	6.02	6.02	0.97574	.	0.162464	0.41097	D	0.000954	T	0.33673	0.0871	M	0.61703	1.905	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.72075	0.956;0.976	T	0.00349	-1.1798	10	0.72032	D	0.01	-26.9232	20.1358	0.98028	0.0:0.0:1.0:0.0	.	210;210	Q13127-2;Q13127	.;REST_HUMAN	Y	210	ENSP00000311816:D210Y	ENSP00000311816:D210Y	D	+	1	0	REST	57472189	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.441000	0.97557	2.865000	0.98341	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1	41	281	0	56	1	9.797771e-01	5	40	0	56	2		0	0	0	0	0	2	1	1	41	276	0	56	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999773	0.990000	1	9.900000e-01	1
REST	5978	broad.mit.edu	37	4	57796239	57796239	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796239G>T	ENST00000309042.7	+	4	1529	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor			50	Glioma(25;0.08)|all_neural(26;0.181)				GTAATCTACAGTATCACTTCA	0.388000																								0							SO:0001583	missense			ENST00000309042.7	1	1	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547197	0.65311	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.42900	0.96	5.8	1.01	0.19927	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000008	T	0.43567	0.1253	L	0.54323	1.7	0.53005	D	0.999968	D;P	0.61697	0.99;0.89	P;B	0.52424	0.698;0.286	T	0.28870	-1.0030	10	0.72032	D	0.01	-13.699	6.4542	0.21920	0.3222:0.114:0.5638:0.0	.	382;405	F8WAN5;Q13127	.;REST_HUMAN	H	405;405;382	ENSP00000311816:Q405H	ENSP00000311816:Q405H	Q	+	3	2	REST	57490996	1.000000	0.71417	0.991000	0.47740	0.883000	0.51084	2.740000	0.47418	-0.130000	0.11599	-0.175000	0.13238	CAG		TCGA-IB-7651-01A-11D-2154-08	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1	96	529	0	164	1	9.864646e-01	4	35	0	164	2		0	0	0	0	0	2	1	1	96	522	0	163	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REST	5978	broad.mit.edu	37	4	57796731	57796731	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796731A>C	ENST00000309042.7	+	4	2021	c.1707A>C	c.(1705-1707)aaA>aaC	p.K569N		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor			50	Glioma(25;0.08)|all_neural(26;0.181)				AGGAGAATAAAAAGCAAAATA	0.343000																								0							SO:0001583	missense			ENST00000309042.7	1	1	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931575	0.52866	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.42513	0.97	5.59	-1.26	0.09376	.	0.631179	0.15334	N	0.267877	T	0.56673	0.2001	M	0.71581	2.175	0.47905	D	0.999548	D;D	0.76494	0.999;0.986	D;P	0.68192	0.956;0.843	T	0.58612	-0.7606	10	0.62326	D	0.03	-5.6695	10.1506	0.42791	0.6404:0.0:0.3596:0.0	.	546;569	F8WAN5;Q13127	.;REST_HUMAN	N	569;546	ENSP00000311816:K569N	ENSP00000311816:K569N	K	+	3	2	REST	57491488	0.997000	0.39634	0.279000	0.24732	0.478000	0.33099	0.618000	0.24373	-0.182000	0.10602	-0.366000	0.07423	AAA		TCGA-IB-7651-01A-11D-2154-08	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	0	8	143	0	33	1	8.458927e-01	2	61	0	33	2		0	0	0	0	0	2	1	9.881716e-01	8	137	0	33	2								-11.977030	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.660000	0.310000	1.000000	1.000000	0.682981	0.660000	0	4.600000e-01	9.500000e-01
REST	5978	broad.mit.edu	37	4	57796834	57796834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796834G>A	ENST00000309042.7	+	4	2124	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor			50	Glioma(25;0.08)|all_neural(26;0.181)				TGTTGAGAAGGGATCTGCTCA	0.498000																								0							SO:0001583	missense			ENST00000309042.7	1	1	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738503	0.15574	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06849	3.25	4.23	4.23	0.50019	.	1.495820	0.04005	N	0.297113	T	0.09202	0.0227	N	0.19112	0.55	0.09310	N	0.999993	B;B	0.12013	0.004;0.005	B;B	0.18263	0.021;0.005	T	0.25984	-1.0116	10	0.37606	T	0.19	1.0E-4	14.3745	0.66865	0.0:0.0:1.0:0.0	.	581;604	F8WAN5;Q13127	.;REST_HUMAN	R	604;581	ENSP00000311816:G604R	ENSP00000311816:G604R	G	+	1	0	REST	57491591	0.024000	0.19004	0.011000	0.14972	0.003000	0.03518	1.939000	0.40213	2.273000	0.75805	0.491000	0.48974	GGA		TCGA-IB-7651-01A-11D-2154-08	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	1	0	1	40	170	0	51	1	9.907268e-01	10	24	0	51	2		0	0	0	0	0	2	1	1	40	167	0	51	2								-3.291167	1	1	121320	1	29	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REST	5978	broad.mit.edu	37	4	57797303	57797303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57797303C>A	ENST00000309042.7	+	4	2593	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	p.M753_P768delMEVVQKEPVKIELSPP(1)		50	Glioma(25;0.08)|all_neural(26;0.181)				CAGAAGGAACCTGTTAAGATA	0.557000																								1	Deletion - In frame(1)						SO:0001583	missense			ENST00000309042.7	1	1	hg19	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442522	0.25987	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.08896	3.04	2.6	-0.484	0.12071	.	1.788680	0.03034	N	0.152446	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	D;D	0.61697	0.99;0.983	P;B	0.50192	0.634;0.431	T	0.11155	-1.0599	10	0.27785	T	0.31	0.3888	2.2674	0.04082	0.1999:0.4953:0.1803:0.1245	.	737;760	F8WAN5;Q13127	.;REST_HUMAN	H	760;737	ENSP00000311816:P760H	ENSP00000311816:P760H	P	+	2	0	REST	57492060	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.100000	0.15231	-0.167000	0.10871	-0.479000	0.04858	CCT		TCGA-IB-7651-01A-11D-2154-08	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	0	0	0	48	2092	0	501	0	2.325289e-01	1	39	0	501	2		0	0	0	0	0	2	1	1	47	2054	0	495	2								-2.197096	0	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.260000	0.190000	1.000000	0.270000	0.310825	0.260000	0	2.200000e-01	3.200000e-01
POLR2B	5431	broad.mit.edu	37	4	57876529	57876529	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57876529G>A	ENST00000381227.1	+	12	1820	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	POLR2B_ENST00000431623.2_Silent_p.V394V|POLR2B_ENST00000441246.2_Silent_p.V462V|POLR2B_ENST00000314595.5_Silent_p.V469V|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa			52	Glioma(25;0.08)|all_neural(26;0.181)				TTTTCTAGGTGTTAAACCGCC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000381227.1	1	1	hg19	CCDS3511.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	0	0	0	62	769	0	168	1	9.999999e-01	25	252	0	168	2		0	0	0	0	0	2	1	1	61	755	0	166	2								-13.365730	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.880000	0.680000	1.000000	1.000000	0.887072	0.880000	1	7.800000e-01	1
POLR2B	5431	broad.mit.edu	37	4	57887134	57887134	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57887134G>A	ENST00000381227.1	+	18	2806	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H|POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa			52	Glioma(25;0.08)|all_neural(26;0.181)				ATCATGAATCGTTCAGCTGTA	0.353000																								0							SO:0001583	missense			ENST00000381227.1	1	1	hg19	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306685	0.95629	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.64	5.64	0.86602	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.108661	0.64402	D	0.000005	T	0.77585	0.4152	L	0.49571	1.57	0.80722	D	1	P;P	0.47034	0.889;0.889	P;P	0.44477	0.451;0.451	T	0.80692	-0.1269	10	0.87932	D	0	.	17.8818	0.88842	0.0:0.0:1.0:0.0	.	723;798	C9J4M6;P30876	.;RPB2_HUMAN	H	798;723;791;798	ENSP00000370625:R798H;ENSP00000391096:R723H;ENSP00000391452:R791H;ENSP00000312735:R798H	ENSP00000312735:R798H	R	+	2	0	POLR2B	57581891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.884000	0.87274	2.657000	0.90304	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	1	0	1	80	353	0	73	1	1	57	179	0	73	2		0	0	0	0	0	2	1	1	79	348	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVC	2121	broad.mit.edu	37	4	5803763	5803763	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5803763C>T	ENST00000264956.6	+	16	2575	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	EVC_ENST00000382674.2_Silent_p.I797I	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome			28		Myeloproliferative disorder(84;0.117)			ACCAGCAAATCGGAAGGATCA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000264956.6	1	1	hg19	CCDS3383.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1	1	0	1	34	193	0	50	0	9.902184e-01	0	44	0	50	2		0	0	0	0	0	2	1	1	34	190	0	48	2								-3.331945	1	1	121412	8	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
CRMP1	1400	broad.mit.edu	37	4	5857930	5857930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5857930C>T	ENST00000397890.2	-	4	632	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CRMP1_ENST00000512574.1_Missense_Mutation_p.D138N|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.D254N	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1			36					CTTGTGATGTCCACGTGGAGG	0.552000																								0							SO:0001583	missense			ENST00000397890.2	1	1	hg19	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	c	18.20	3.571960	0.65765	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90004	-2.6;-2.6;-2.6	3.09	3.09	0.35607	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	M	0.64676	1.99	0.51233	D	0.999913	B;B;B;D	0.89917	0.34;0.447;0.226;1.0	B;B;B;D	0.97110	0.232;0.186;0.132;1.0	D	0.92602	0.6092	10	0.52906	T	0.07	-26.4066	13.358	0.60640	0.0:1.0:0.0:0.0	.	254;138;140;77	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	N	254;140;140;138	ENSP00000321606:D254N;ENSP00000380987:D140N;ENSP00000425742:D138N	ENSP00000321606:D254N	D	-	1	0	CRMP1	5908831	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.118000	0.77137	1.577000	0.49804	0.537000	0.68136	GAC		TCGA-IB-7651-01A-11D-2154-08	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	1	0	1	60	226	0	58	0	9.963162e-01	0	35	0	58	2		0	0	0	0	0	2	1	1	60	223	0	57	2								-3.814285	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C4orf50	389197	broad.mit.edu	37	4	5966868	5966868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5966868C>T	ENST00000324058.5	-	6	551	c.462G>A	c.(460-462)caG>caA	p.Q154Q	C4orf50_ENST00000531445.1_Silent_p.Q628Q			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50			15					AGAGGTATGTCTGAGCTGGAA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000324058.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1	39	212	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	39	205	0	62	2								-3.336488	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
C4orf50	389197	broad.mit.edu	37	4	5975525	5975525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5975525C>T	ENST00000324058.5	-	4	358	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C4orf50_ENST00000531445.1_Missense_Mutation_p.R564H			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50			15					GGTGATCAGGCGGTTCCTCTC	0.632000																								0							SO:0001583	missense			ENST00000324058.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.172	-1.070634	0.01918	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.23552	1.9;1.9	4.6	-8.19	0.01049	.	1.351300	0.05126	N	0.491658	T	0.05227	0.0139	N	0.00729	-1.24	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25950	-1.0117	10	0.14656	T	0.56	-2.3071	3.5234	0.07751	0.1109:0.4458:0.1113:0.332	.	90	Q6ZRC1	CD050_HUMAN	H	564;90	ENSP00000437121:R564H;ENSP00000317287:R90H	ENSP00000317287:R90H	R	-	2	0	C4orf50	6026426	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.011000	0.01452	-1.989000	0.00979	-0.254000	0.11334	CGC		TCGA-IB-7651-01A-11D-2154-08	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	16	322	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	9.999319e-01	16	318	0	47	2								-17.296690	1	1	121412	2	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.570000	0.340000	1.000000	0.550000	0.606456	0.570000	0	4.400000e-01	7.600000e-01
C4orf50	389197	broad.mit.edu	37	4	5977679	5977679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5977679C>T	ENST00000324058.5	-	3	261	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	C4orf50_ENST00000531445.1_Missense_Mutation_p.E532K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50			15					TGAAGTTCTTCAAGCTGAAAT	0.428000																								0							SO:0001583	missense			ENST00000324058.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.182	1.023939	0.19433	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.25250	1.81;1.81	3.2	0.226	0.15353	.	1.293370	0.05830	N	0.617356	T	0.19604	0.0471	L	0.43152	1.355	0.09310	N	1	P	0.36535	0.557	B	0.30572	0.117	T	0.23726	-1.0180	10	0.54805	T	0.06	0.1767	5.5477	0.17073	0.0:0.4933:0.3869:0.1198	.	58	Q6ZRC1	CD050_HUMAN	K	532;58	ENSP00000437121:E532K;ENSP00000317287:E58K	ENSP00000317287:E58K	E	-	1	0	C4orf50	6028580	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.081000	0.14823	-0.111000	0.12001	0.455000	0.32223	GAA		TCGA-IB-7651-01A-11D-2154-08	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1	24	215	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	9.159594e-01	23	209	1	47	16								-3.017773	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.790000	1.000000	1.000000	0.981461	0.990000	1	9.800000e-01	1
JAKMIP1	152789	broad.mit.edu	37	4	6080706	6080706	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6080706C>T	ENST00000282924.5	-	8	1747	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R421H|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1			42					CCTTTTGGAGCGCAACAGCCG	0.567000																								0							SO:0001583	missense			ENST00000282924.5	1	1	hg19	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087251	0.55968	.	.	ENSG00000152969	ENST00000409021;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T	0.35048	1.74;1.75;1.75;1.33	5.24	5.24	0.73138	.	0.080268	0.53938	N	0.000057	T	0.49253	0.1546	M	0.73962	2.25	0.43462	D	0.995669	D;B;D;B	0.71674	0.998;0.01;0.994;0.01	P;B;P;B	0.48488	0.579;0.003;0.579;0.003	T	0.55444	-0.8140	10	0.52906	T	0.07	.	17.8446	0.88725	0.0:1.0:0.0:0.0	.	256;421;421;421	B4DHZ8;F2Z2K5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	H	421;421;313;421;421;256	ENSP00000386711:R421H;ENSP00000282924:R421H;ENSP00000386925:R421H;ENSP00000386745:R256H	ENSP00000282924:R421H	R	-	2	0	JAKMIP1	6131607	0.972000	0.33761	0.993000	0.49108	0.960000	0.62799	2.320000	0.43797	2.445000	0.82738	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	1	0	1	49	201	0	44	0	1.795774e-01	0	4	0	44	2		0	0	0	0	0	2	1	1	48	196	0	44	2								-20.000000	1	1	121412	2	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:619547C>T	ENST00000496514.1	+	1	153	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000255622.6_Silent_p.C44C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta			30				Caffeine(DB00201)	CGCCGGACTGCGACAGCCTCC	0.632000													GBM(71;463 1194 9848 25922 46834)											0							SO:0001819	synonymous_variant			ENST00000496514.1	1	1	hg19	CCDS33932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	0	0	0	35	323	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	34	321	0	54	2								-20.000000	1	1	121402	192	53	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.830000	1.000000	1.000000	0.984982	0.990000	1	9.800000e-01	1
LPHN3	23284	broad.mit.edu	37	4	62598530	62598530	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62598530C>T	ENST00000514591.1	+	7	782	c.453C>T	c.(451-453)tcC>tcT	p.S151S	LPHN3_ENST00000511324.1_Silent_p.S219S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000512091.2_Silent_p.S151S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000506746.1_Silent_p.S219S|LPHN3_ENST00000506720.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000504896.1_Silent_p.S151S			Q9HAR2	LPHN3_HUMAN	latrophilin 3			125					TGTTTGAGTCCGACCACCAAT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000514591.1	0	1	hg19	CCDS54768.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1	1	0	0	16	69	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.999505e-01	16	66	0	14	2								-20.000000	1	1	120718	10	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999774	0.990000	1	9.900000e-01	1
LPHN3	23284	broad.mit.edu	37	4	62599163	62599163	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62599163G>A	ENST00000514591.1	+	7	1415	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000512091.2_Silent_p.Q362Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3			125					ATTCATACCAGTACATTGCAG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000514591.1	1	1	hg19	CCDS54768.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1	1	0	1	26	140	0	32	0	2.662722e-02	0	2	0	32	2		0	0	0	0	0	2	1	9.999999e-01	25	133	0	32	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999910	0.990000	1	9.900000e-01	1
WFS1	7466	broad.mit.edu	37	4	6293694	6293694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6293694C>T	ENST00000226760.1	+	6	852	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)			21					GAAGCAGAGGCGCATGCTGGA	0.647000																								0							SO:0001583	missense			ENST00000226760.1	1	1	hg19	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854440	0.71719	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.94966	-3.57;-3.57	4.37	3.46	0.39613	.	0.052887	0.64402	D	0.000001	D	0.95538	0.8550	L	0.54323	1.7	0.49130	D	0.99975	D	0.89917	1.0	D	0.75484	0.986	D	0.94871	0.8030	10	0.54805	T	0.06	-44.9845	11.1008	0.48172	0.3123:0.6877:0.0:0.0	.	228	O76024	WFS1_HUMAN	C	228	ENSP00000423337:R228C;ENSP00000226760:R228C	ENSP00000226760:R228C	R	+	1	0	WFS1	6344595	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.994000	0.49433	2.144000	0.66660	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	1	20	73	0	13	1	9.999717e-01	8	63	0	13	2		0	0	0	0	0	2	1	9.999981e-01	20	73	0	13	2								-3.809386	1	1	121034	3	24	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
WFS1	7466	broad.mit.edu	37	4	6302625	6302625	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6302625G>T	ENST00000226760.1	+	8	1273	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I	WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)			21					TTCCAGGACAGCAAGGCCTGG	0.582000																								0							SO:0001583	missense			ENST00000226760.1	1	1	hg19	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.70|16.70	3.195734|3.195734	0.58126|0.58126	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.90900	.|-2.75;-2.75	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.149328	.|0.56097	.|D	.|0.000026	D|D	0.92028|0.92028	0.7474|0.7474	M|M	0.62723|0.62723	1.935|1.935	0.49483|0.49483	D|D	0.999797|0.999797	.|P	.|0.43633	.|0.813	.|P	.|0.48840	.|0.592	D|D	0.93101|0.93101	0.6508|0.6508	5|10	.|0.72032	.|D	.|0.01	-32.0773|-32.0773	16.9399|16.9399	0.86215|0.86215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|368	.|O76024	.|WFS1_HUMAN	S|I	246|368	.|ENSP00000423337:S368I;ENSP00000226760:S368I	.|ENSP00000226760:S368I	A|S	+|+	1|2	0|0	WFS1|WFS1	6353526|6353526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.765000|0.765000	0.43378|0.43378	7.258000|7.258000	0.78371|0.78371	2.240000|2.240000	0.73641|0.73641	0.556000|0.556000	0.70494|0.70494	GCA|AGC		TCGA-IB-7651-01A-11D-2154-08	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	1	99	515	0	116	1	1	20	114	0	116	2		0	0	0	0	0	2	1	1	98	503	0	113	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WFS1	7466	broad.mit.edu	37	4	6303071	6303071	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303071C>T	ENST00000226760.1	+	8	1719	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)			21					TCTCTTCTTCCGCATGGCACA	0.577000																								0		GRCh37	CD993079	WFS1	D		SO:0001583	missense			ENST00000226760.1	1	1	hg19	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	9.971	1.225411	0.22457	2.27E-4	0.0	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.81821	-1.54;-1.54	4.38	3.45	0.39498	.	0.127040	0.53938	D	0.000044	T	0.75496	0.3857	M	0.61703	1.905	0.53688	D	0.999979	B	0.22414	0.069	B	0.16722	0.016	T	0.76591	-0.2903	10	0.87932	D	0	-51.3577	9.4528	0.38736	0.3831:0.6168:0.0:0.0	.	517	O76024	WFS1_HUMAN	C	517	ENSP00000423337:R517C;ENSP00000226760:R517C	ENSP00000226760:R517C	R	+	1	0	WFS1	6353972	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.007000	0.40883	2.269000	0.75478	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	1	117	528	0	89	1	9.999980e-01	13	72	0	89	2		0	0	0	0	0	2	1	1	116	520	0	89	2								-3.279470	1	1	121412	4	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WFS1	7466	broad.mit.edu	37	4	6303313	6303313	+	Silent	SNP	C	C	T	rs141883293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303313C>T	ENST00000226760.1	+	8	1961	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	WFS1_ENST00000503569.1_Silent_p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)			21					TCACCAAGATCGCAGTCACCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000226760.1	1	1	hg19	CCDS3386.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	0	0	0	23	624	0	118	1	8.181845e-01	5	82	0	118	2		0	0	0	0	0	2	1	9.999993e-01	23	618	0	117	2								-3.426604	1	1	121410	3	43	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.430000	0.270000	1.000000	0.410000	0.465989	0.430000	0	3.400000e-01	5.400000e-01
WFS1	7466	broad.mit.edu	37	4	6303910	6303910	+	Silent	SNP	C	C	T	rs71532868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303910C>T	ENST00000226760.1	+	8	2558	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	WFS1_ENST00000503569.1_Silent_p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)			21					GCGAGGAGGACGACGTCACCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000226760.1	1	1	hg19	CCDS3386.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	1	55	220	0	47	1	9.999887e-01	14	57	0	47	2		0	0	0	0	0	2	1	1	55	219	0	46	2								-20.000000	1	0	121218	4	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WFS1	7466	broad.mit.edu	37	4	6303932	6303932	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303932C>A	ENST00000226760.1	+	8	2580	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M	WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)			21					GGACATCGTGCTGCGGGCCAG	0.652000																								0							SO:0001583	missense			ENST00000226760.1	1	1	hg19	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663252	0.67700	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.95342	-3.68;-3.68	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.95655	0.8587	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.96219	0.9159	10	0.72032	D	0.01	-23.9621	18.573	0.91144	0.0:1.0:0.0:0.0	.	804	O76024	WFS1_HUMAN	M	804;804;182	ENSP00000423337:L804M;ENSP00000226760:L804M	ENSP00000226760:L804M	L	+	1	2	WFS1	6354833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.248000	0.43160	2.636000	0.89361	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1	1	0	1	54	247	0	53	1	9.999917e-01	17	65	0	53	2		0	0	0	0	0	2	1	1	54	247	0	52	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE6B	5158	broad.mit.edu	37	4	649781	649781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:649781G>A	ENST00000496514.1	+	7	1066	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.A349T|PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta			30				Caffeine(DB00201)	AAGCTACGTGGCAGAAAGCGG	0.647000													GBM(71;463 1194 9848 25922 46834)											0							SO:0001583	missense			ENST00000496514.1	1	1	hg19	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098517	0.94197	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000487902;ENST00000429163	T;T;T;T	0.76186	-0.47;-0.47;-1.0;-0.47	4.94	4.94	0.65067	GAF (2);	0.000000	0.85682	D	0.000000	D	0.87920	0.6299	M	0.92555	3.32	0.80722	D	1	P;P	0.50369	0.934;0.919	P;P	0.59643	0.861;0.783	D	0.90962	0.4813	10	0.87932	D	0	.	15.6552	0.77129	0.0:0.0:1.0:0.0	.	349;349	P35913;P35913-2	PDE6B_HUMAN;.	T	349;349;70;70	ENSP00000255622:A349T;ENSP00000420295:A349T;ENSP00000418256:A70T;ENSP00000406334:A70T	ENSP00000255622:A349T	A	+	1	0	PDE6B	639781	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.409000	0.97331	2.275000	0.75901	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	0	0	1	53	243	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	51	241	0	58	2								-3.317217	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE6B	5158	broad.mit.edu	37	4	655986	655986	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:655986C>T	ENST00000496514.1	+	13	1699	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PDE6B_ENST00000255622.6_Missense_Mutation_p.R560C|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.R281C			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta			30				Caffeine(DB00201)	CCACAACTGGCGCCACGGCTT	0.622000													GBM(71;463 1194 9848 25922 46834)											0							SO:0001583	missense			ENST00000496514.1	1	1	hg19	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544052	0.65198	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78816	-1.21;-1.21;-1.21	4.41	3.54	0.40534	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.86343	2.81	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70016	0.967;0.924	D	0.88428	0.3033	10	0.87932	D	0	.	11.1833	0.48642	0.1854:0.8145:0.0:0.0	.	560;560	P35913;P35913-2	PDE6B_HUMAN;.	C	560;560;281	ENSP00000255622:R560C;ENSP00000420295:R560C;ENSP00000406334:R281C	ENSP00000255622:R560C	R	+	1	0	PDE6B	645986	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.559000	0.36320	0.800000	0.34041	0.558000	0.71614	CGC		TCGA-IB-7651-01A-11D-2154-08	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	1	0	1	11	44	0	9	0	1.191670e-01	0	3	0	9	2		0	0	0	0	0	2	1	9.987915e-01	11	43	0	9	2								-19.977330	1	1	120168	3	26	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999011	0.990000	1	9.900000e-01	1
MAN2B2	23324	broad.mit.edu	37	4	6578436	6578436	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6578436C>T	ENST00000285599.3	+	2	306	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MAN2B2_ENST00000504248.1_Silent_p.D90D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2			30					TCGCCTCGGACCAGCAGAAAT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000285599.3	1	1	hg19	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.043348	0.01997	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	3.67	-0.46	0.12175	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	.	7.1801	0.25768	0.0:0.2972:0.4966:0.2062	.	.	.	.	I	89	.	.	T	+	2	0	MAN2B2	6629337	0.000000	0.05858	0.135000	0.22099	0.251000	0.25915	-0.223000	0.09177	-0.768000	0.04626	-1.358000	0.01219	ACC		TCGA-IB-7651-01A-11D-2154-08	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	1	0	1	77	358	0	99	1	1	19	96	0	99	2		0	0	0	0	0	2	1	1	77	352	0	99	2								-20.000000	1	1	121408	2	33	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAN2B2	23324	broad.mit.edu	37	4	6598925	6598925	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6598925C>T	ENST00000285599.3	+	8	1179	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	MAN2B2_ENST00000504248.1_Silent_p.A330A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2			30					TGTTGTATGCCGGGGAGTCCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000285599.3	1	1	hg19	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366790	0.24771	2.27E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	5.13	-9.49	0.00587	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41662	-0.9496	4	.	.	.	-25.9402	2.8042	0.05423	0.347:0.1042:0.0869:0.4619	.	.	.	.	L	380	.	.	P	+	2	0	MAN2B2	6649826	0.001000	0.12720	0.138000	0.22173	0.985000	0.73830	-2.311000	0.01128	-1.699000	0.01416	-0.275000	0.10095	CCG		TCGA-IB-7651-01A-11D-2154-08	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	1	0	1	160	822	0	136	1	1	32	159	0	136	2		0	0	0	0	0	2	1	1	159	812	0	130	2								-3.143410	1	0	121410	3	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAN2B2	23324	broad.mit.edu	37	4	6599013	6599013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6599013C>T	ENST00000285599.3	+	8	1267	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2			30					CCAGCAGCTTCGCTGGGCCGT	0.632000																								0							SO:0001583	missense			ENST00000285599.3	1	1	hg19	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900586	0.72754	2.27E-4	0.0	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.77358	-1.09;-1.09	5.27	4.42	0.53409	Glycoside hydrolase, family 38, central domain (2);	0.171581	0.51477	D	0.000090	D	0.90400	0.6995	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90863	0.4740	10	0.87932	D	0	-28.4917	8.4584	0.32912	0.1536:0.7633:0.0:0.0831	.	360;411;411	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	411;360	ENSP00000285599:R411C;ENSP00000423129:R360C	ENSP00000285599:R411C	R	+	1	0	MAN2B2	6649914	0.907000	0.30839	1.000000	0.80357	0.968000	0.65278	1.407000	0.34657	1.195000	0.43115	0.643000	0.83706	CGC		TCGA-IB-7651-01A-11D-2154-08	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	1	0	0	92	390	0	69	1	1	19	122	0	69	2		0	0	0	0	0	2	1	1	91	385	0	69	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE6B	5158	broad.mit.edu	37	4	661780	661780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:661780G>A	ENST00000496514.1	+	21	2509	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	PDE6B_ENST00000255622.6_Missense_Mutation_p.V830M|PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta			30				Caffeine(DB00201)	GGAGGAGAGGGTGGCAGCCAA	0.552000													GBM(71;463 1194 9848 25922 46834)											0							SO:0001583	missense			ENST00000496514.1	1	1	hg19	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	g	7.518	0.656106	0.14580	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.66280	-0.05;-0.04;-0.2	4.23	-3.38	0.04883	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	1.289310	0.05632	N	0.581881	T	0.34658	0.0905	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.004;0.009	T	0.23154	-1.0196	10	0.48119	T	0.1	.	5.6111	0.17406	0.3723:0.3678:0.2599:0.0	.	830;830	P35913;P35913-2	PDE6B_HUMAN;.	M	830;830;551	ENSP00000255622:V830M;ENSP00000420295:V830M;ENSP00000406334:V551M	ENSP00000255622:V830M	V	+	1	0	PDE6B	651780	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.160000	0.16462	-0.301000	0.08882	-0.856000	0.03024	GTG		TCGA-IB-7651-01A-11D-2154-08	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	1	0	1	108	521	0	107	0	6.365110e-01	0	12	0	107	2		0	0	0	0	0	2	1	1	107	496	0	106	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA5	2044	broad.mit.edu	37	4	66217294	66217294	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66217294A>G	ENST00000273854.3	-	14	2921	c.2321T>C	c.(2320-2322)gTg>gCg	p.V774A	EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A|EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5			142					AAGCTGAATCACAGTGAACTG	0.423000										TSP Lung(17;0.13)														0							SO:0001583	missense			ENST00000273854.3	1	1	hg19	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702208	0.88924	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000103	T	0.62319	0.2418	N	0.05383	-0.06	0.80722	D	1	P;D;P;D	0.63880	0.91;0.992;0.89;0.993	P;D;P;D	0.69142	0.846;0.962;0.761;0.916	T	0.69435	-0.5146	10	0.49607	T	0.09	.	16.0287	0.80560	1.0:0.0:0.0:0.0	.	753;775;752;774	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	774;611;752;775	ENSP00000273854:V774A;ENSP00000389208:V611A;ENSP00000346899:V752A;ENSP00000427638:V775A	ENSP00000273854:V774A	V	-	2	0	EPHA5	65899889	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.497000	0.81536	2.202000	0.70862	0.477000	0.44152	GTG		TCGA-IB-7651-01A-11D-2154-08	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	1	0	1	50	266	0	69	0	2.597962e-02	0	2	0	69	2		0	0	0	0	0	2	1	1	48	264	0	68	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA5	2044	broad.mit.edu	37	4	66280142	66280142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66280142G>A	ENST00000273854.3	-	7	2147	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M|EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5			142					TTTGATAATCGTGTAGCTGGT	0.388000										TSP Lung(17;0.13)														0							SO:0001583	missense			ENST00000273854.3	1	1	hg19	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533607	0.85812	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.74176	0.3682	M	0.72624	2.21	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.97;1.0;0.991	T	0.71556	-0.4557	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	516;516;516;516	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	M	516;352;516;516	ENSP00000273854:T516M;ENSP00000389208:T352M;ENSP00000346899:T516M;ENSP00000427638:T516M	ENSP00000273854:T516M	T	-	2	0	EPHA5	65962737	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.822000	0.86651	2.941000	0.99782	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	1	0	1	69	394	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	68	386	0	102	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA5	2044	broad.mit.edu	37	4	66356119	66356119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356119C>T	ENST00000273854.3	-	5	1978	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5			142					GTTACATTTACAGACACATAC	0.473000										TSP Lung(17;0.13)														0							SO:0001583	missense			ENST00000273854.3	1	1	hg19	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790228	0.50102	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.55234	0.53;0.53;0.53	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.53938	D	0.000049	T	0.60090	0.2242	L	0.46157	1.445	0.42608	D	0.993307	B;B;P;B	0.36330	0.413;0.017;0.548;0.129	B;B;P;B	0.46237	0.311;0.027;0.508;0.026	T	0.52381	-0.8583	10	0.35671	T	0.21	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	460;460;460;460	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	I	460	ENSP00000273854:V460I;ENSP00000346899:V460I;ENSP00000427638:V460I	ENSP00000273854:V460I	V	-	1	0	EPHA5	66038714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.904000	0.56325	2.894000	0.99253	0.591000	0.81541	GTA		TCGA-IB-7651-01A-11D-2154-08	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	1	0	1	59	252	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	57	247	0	68	2								-3.405728	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA5	2044	broad.mit.edu	37	4	66356255	66356255	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356255G>A	ENST00000273854.3	-	5	1842	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	EPHA5_ENST00000511294.1_Silent_p.Y414Y|EPHA5_ENST00000354839.4_Silent_p.Y414Y|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5			142					GCCGGGGAAGGTACCTGACAT	0.493000										TSP Lung(17;0.13)														0							SO:0001819	synonymous_variant			ENST00000273854.3	1	1	hg19	CCDS3513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	1	0	1	54	270	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	1	52	261	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA5	2044	broad.mit.edu	37	4	66361172	66361172	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66361172T>A	ENST00000273854.3	-	4	1600	c.1000A>T	c.(1000-1002)Acc>Tcc	p.T334S	EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5			142					ACACAAGAGGTTGAAGCTTCC	0.478000										TSP Lung(17;0.13)														0							SO:0001583	missense			ENST00000273854.3	1	1	hg19	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018682	0.35606	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97378	1.64;1.64;-4.36	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000036	D	0.95095	0.8411	L	0.33668	1.02	0.29807	N	0.831938	B;B;P;B	0.35507	0.373;0.024;0.506;0.021	B;B;B;B	0.43123	0.232;0.016;0.409;0.012	D	0.90807	0.4698	10	0.15066	T	0.55	.	16.2231	0.82269	0.0:0.0:0.0:1.0	.	334;334;334;334	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	334	ENSP00000273854:T334S;ENSP00000346899:T334S;ENSP00000427638:T334S	ENSP00000273854:T334S	T	-	1	0	EPHA5	66043767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.137000	0.50562	2.235000	0.73313	0.377000	0.23210	ACC		TCGA-IB-7651-01A-11D-2154-08	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	0	0	1	122	556	1	151		0	0	0	1	151	2		0	0	0	0	0	2	1	1	120	547	1	148	16								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFSD7	84179	broad.mit.edu	37	4	676148	676148	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676148C>T	ENST00000404286.2	-	10	1297	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T|MFSD7_ENST00000322224.4_Missense_Mutation_p.A427T|MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T|MFSD7_ENST00000503156.1_Intron	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7			11					CACAGGCCGGCCATCAGCAGC	0.647000																								0							SO:0001583	missense			ENST00000404286.2	1	1	hg19		4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	21.0	4.078096	0.76528	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.26	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);	0.061492	0.64402	D	0.000005	T	0.72542	0.3473	M	0.70275	2.135	0.80722	D	1	D;D;P;D	0.60575	0.988;0.988;0.454;0.976	P;P;B;P	0.61477	0.889;0.889;0.342;0.793	T	0.70260	-0.4921	10	0.28530	T	0.3	-16.8238	12.4069	0.55445	0.0:1.0:0.0:0.0	.	331;309;428;427	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	T	309;427;428;331	ENSP00000307545:A309T;ENSP00000320234:A427T;ENSP00000384616:A428T;ENSP00000423204:A331T	ENSP00000320234:A427T	A	-	1	0	MFSD7	666148	1.000000	0.71417	0.994000	0.49952	0.315000	0.28087	2.147000	0.42226	2.394000	0.81467	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	1	0	1	19	83	0	20	0	9.984150e-01	0	50	0	20	2		0	0	0	0	0	2	1	9.999938e-01	18	81	0	20	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
MFSD7	84179	broad.mit.edu	37	4	676654	676654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676654G>A	ENST00000404286.2	-	9	1195	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	MFSD7_ENST00000515118.1_Silent_p.L297L|MFSD7_ENST00000322224.4_Silent_p.L393L|MFSD7_ENST00000347950.5_Silent_p.L275L|MFSD7_ENST00000503156.1_Silent_p.L329L	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7			11					GTCATTGCCAGCATGATGAGT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000404286.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	1	0	1	19	73	0	19	1	9.999114e-01	11	55	0	19	2		0	0	0	0	0	2	1	9.999954e-01	18	73	0	19	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
UBA6	55236	broad.mit.edu	37	4	68490771	68490771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68490771G>A	ENST00000322244.5	-	29	2712	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6			44					CCAGCTATGCGCTTTGTTTTG	0.373000																								0							SO:0001583	missense			ENST00000322244.5	1	1	hg19	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787040	0.70337	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.46451	0.87	5.52	5.52	0.82312	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.69924	-0.5013	10	0.62326	D	0.03	-13.1519	17.6191	0.88076	0.0:0.0:1.0:0.0	.	885	A0AVT1	UBA6_HUMAN	C	885	ENSP00000313454:R885C	ENSP00000313454:R885C	R	-	1	0	UBA6	68173366	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	5.588000	0.67517	2.566000	0.86566	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	1	0	1	71	264	0	58	1	9.998168e-01	16	34	0	58	2		0	0	0	0	0	2	1	1	70	261	0	57	2								-20.000000	1	1	121410	2	37	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBA6	55236	broad.mit.edu	37	4	68501275	68501275	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68501275G>A	ENST00000322244.5	-	20	1797	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6			44					GCTAAGCAACGACTATTTGAA	0.363000																								0							SO:0001630	splice_region_variant			ENST00000322244.5	0	1	hg19	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558085	0.86231	0.0	1.16E-4	ENSG00000033178	ENST00000322244	T	0.44881	0.91	5.11	5.11	0.69529	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.058855	0.64402	D	0.000002	T	0.65407	0.2688	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.68864	-0.5296	10	0.66056	D	0.02	-19.9923	18.538	0.91018	0.0:0.0:1.0:0.0	.	580	A0AVT1	UBA6_HUMAN	C	580	ENSP00000313454:R580C	ENSP00000313454:R580C	R	-	1	0	UBA6	68183870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.194000	0.94962	2.379000	0.81126	0.460000	0.39030	CGT		TCGA-IB-7651-01A-11D-2154-08	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	0	0	0	11	290	0	37	1	8.193804e-01	3	82	0	37	2		0	0	0	0	0	2	1	9.982920e-01	11	286	0	37	2								-3.415662	1	1	121410	6	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.450000	0.230000	1.000000	0.430000	0.491380	0.450000	0	3.300000e-01	6.300000e-01
GNRHR	2798	broad.mit.edu	37	4	68610471	68610471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68610471C>T	ENST00000226413.4	-	2	581	c.557G>A	c.(556-558)aGc>aAc	p.S186N	SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor			13				Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTGTCCAGAGCTGTCTGCTAG	0.358000																								0							SO:0001583	missense			ENST00000226413.4	1	1	hg19	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020455	0.19433	.	.	ENSG00000109163	ENST00000226413	T	0.37752	1.18	5.29	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.648819	0.14767	N	0.299611	T	0.18509	0.0444	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.20519	T	0.43	1.8215	5.0319	0.14413	0.3642:0.4621:0.0:0.1736	.	186	P30968	GNRHR_HUMAN	N	186	ENSP00000226413:S186N	ENSP00000226413:S186N	S	-	2	0	GNRHR	68293066	0.000000	0.05858	0.001000	0.08648	0.791000	0.44710	-0.042000	0.12063	0.234000	0.21139	0.643000	0.83706	AGC		TCGA-IB-7651-01A-11D-2154-08	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2	1	0	1	102	498	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	99	495	0	110	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0232	9778	broad.mit.edu	37	4	6862743	6862743	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6862743G>T	ENST00000307659.5	+	7	1089	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232			41					ATCATCCACAGCCCCACCAGC	0.463000																								0							SO:0001583	missense			ENST00000307659.5	1	1	hg19	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059173	0.76074	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	5.53	0.82687	.	0.106608	0.64402	D	0.000005	T	0.53818	0.1820	N	0.24115	0.695	0.39144	D	0.962104	P	0.37370	0.592	B	0.42771	0.397	T	0.60791	-0.7193	9	0.72032	D	0.01	-7.13	19.4461	0.94847	0.0:0.0:1.0:0.0	.	212	Q92628	K0232_HUMAN	S	212	.	ENSP00000303928:A212S	A	+	1	0	KIAA0232	6913644	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.409000	0.80053	2.603000	0.88011	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	1	0	1	122	394	0	114	1	9.999997e-01	17	55	0	114	2		0	0	0	0	0	2	1	1	118	381	0	114	2								-4.933671	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0232	9778	broad.mit.edu	37	4	6863883	6863883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6863883G>A	ENST00000307659.5	+	7	2229	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232			41					TCAGTTTTGGGAGTGCTGTTC	0.522000																								0							SO:0001583	missense			ENST00000307659.5	1	1	hg19	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875666	0.72180	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.7	5.7	0.88788	.	0.159069	0.56097	D	0.000028	T	0.61565	0.2357	M	0.64997	1.995	0.80722	D	1	P	0.46142	0.873	B	0.42361	0.385	T	0.66528	-0.5901	9	0.66056	D	0.02	-25.0728	19.8218	0.96599	0.0:0.0:1.0:0.0	.	592	Q92628	K0232_HUMAN	K	592	.	ENSP00000303928:E592K	E	+	1	0	KIAA0232	6914784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.386000	0.97228	2.678000	0.91216	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	1	0	1	86	408	0	98	1	9.999741e-01	25	49	0	98	2		0	0	0	0	0	2	1	1	83	401	0	96	2								-3.178119	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0232	9778	broad.mit.edu	37	4	6864159	6864159	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864159A>G	ENST00000307659.5	+	7	2505	c.2050A>G	c.(2050-2052)Aca>Gca	p.T684A	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232			41					GCTTGGGAAAACACAGTCTAG	0.348000																								0							SO:0001583	missense			ENST00000307659.5	1	1	hg19	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809461	0.70797	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.047140	0.85682	D	0.000000	T	0.66107	0.2756	M	0.62723	1.935	0.54753	D	0.999986	P	0.51147	0.942	P	0.50659	0.647	T	0.70189	-0.4940	9	0.72032	D	0.01	-18.0415	16.0174	0.80450	1.0:0.0:0.0:0.0	.	684	Q92628	K0232_HUMAN	A	684	.	ENSP00000303928:T684A	T	+	1	0	KIAA0232	6915060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.811000	0.91954	2.186000	0.69663	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	1	0	1	36	145	0	41	1	9.999952e-01	19	62	0	41	2		0	0	0	0	0	2	1	1	36	139	0	41	2								-19.998280	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0232	9778	broad.mit.edu	37	4	6865260	6865260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6865260G>A	ENST00000307659.5	+	7	3606	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232			41					ATTTTCACAAGTTCTTCATGT	0.398000																								0							SO:0001583	missense			ENST00000307659.5	1	1	hg19	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710692	0.68730	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	M	0.64997	1.995	0.58432	D	0.999997	D	0.60575	0.988	P	0.59487	0.858	T	0.77571	-0.2538	9	0.87932	D	0	-26.2537	18.8694	0.92306	0.0:0.0:1.0:0.0	.	1051	Q92628	K0232_HUMAN	I	1051	.	ENSP00000303928:V1051I	V	+	1	0	KIAA0232	6916161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.158000	0.77470	2.765000	0.95021	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	1	0	1	72	280	0	72	1	9.999951e-01	17	55	0	72	2		0	0	0	0	0	2	1	1	70	279	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS11D	9407	broad.mit.edu	37	4	68688070	68688070	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68688070T>C	ENST00000283916.6	-	10	1340	c.1242A>G	c.(1240-1242)caA>caG	p.Q414Q	TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D			23					TCCCAGTTTGTTGCCTAATCC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000283916.6	1	1	hg19	CCDS3518.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	1	0	0	147	666	0	140		0	0	0	0	140	2		0	0	0	0	0	2	1	1	142	651	0	140	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS11D	9407	broad.mit.edu	37	4	68725349	68725349	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68725349A>G	ENST00000283916.6	-	2	154	c.56T>C	c.(55-57)gTa>gCa	p.V19A	TMPRSS11D_ENST00000545541.1_Intron|TMPRSS11D_ENST00000509584.1_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D			23					AATGAAACATACTACATATGG	0.388000																								0							SO:0001583	missense			ENST00000283916.6	1	1	hg19	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713069	0.48517	.	.	ENSG00000153802	ENST00000283916	D	0.89050	-2.46	5.19	5.19	0.71726	.	0.542419	0.16615	N	0.206730	D	0.86703	0.5996	M	0.63843	1.955	0.42236	D	0.991915	P	0.46784	0.884	B	0.41466	0.358	D	0.85068	0.0938	10	0.31617	T	0.26	.	11.3687	0.49687	1.0:0.0:0.0:0.0	.	19	O60235	TM11D_HUMAN	A	19	ENSP00000283916:V19A	ENSP00000283916:V19A	V	-	2	0	TMPRSS11D	68407944	0.038000	0.19896	0.005000	0.12908	0.070000	0.16714	4.007000	0.57093	2.184000	0.69523	0.460000	0.39030	GTA		TCGA-IB-7651-01A-11D-2154-08	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	1	0	1	39	204	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	38	202	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
YTHDC1	91746	broad.mit.edu	37	4	69184570	69184570	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69184570C>A	ENST00000344157.4	-	13	2030	c.1695G>T	c.(1693-1695)aaG>aaT	p.K565N	YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N|YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1			30					ATCGTGGATCCTTTAAATACC	0.323000																								0							SO:0001583	missense			ENST00000344157.4	1	1	hg19	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229728	0.58777	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.24350	1.86;1.86	5.64	5.64	0.86602	.	0.158661	0.64402	D	0.000016	T	0.27967	0.0689	N	0.19112	0.55	0.58432	D	0.999995	D;P	0.54964	0.969;0.895	P;P	0.50192	0.634;0.452	T	0.01397	-1.1365	10	0.36615	T	0.2	.	19.7175	0.96129	0.0:1.0:0.0:0.0	.	547;565	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	N	565;547	ENSP00000339245:K565N;ENSP00000347888:K547N	ENSP00000339245:K565N	K	-	3	2	YTHDC1	68867165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.396000	0.59684	2.662000	0.90505	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	1	0	0	28	345	0	64	1	9.999508e-01	6	185	0	64	2		0	0	0	0	0	2	1	1	28	341	0	63	2								-2.920853	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.900000	0.610000	1.000000	1.000000	0.881898	0.900000	1	7.400000e-01	1
YTHDC1	91746	broad.mit.edu	37	4	69197819	69197819	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69197819A>G	ENST00000344157.4	-	7	1458		c.e7+1		YTHDC1_ENST00000579690.1_Splice_Site|YTHDC1_ENST00000355665.3_Splice_Site	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1			30					TGATGCTAATACCTTCGCTTT	0.313000																								0							SO:0001630	splice_region_variant			ENST00000344157.4	1	1	hg19	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167816	0.57476	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3141	0.74059	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YTHDC1	68880414	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.588000	0.74076	2.155000	0.67459	0.528000	0.53228	.		TCGA-IB-7651-01A-11D-2154-08	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	1	0	1	47	181	0	58	1	5.854548e-01	7	2	0	58	2		0	0	0	0	0	2	1	1	44	177	0	58	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YTHDC1	91746	broad.mit.edu	37	4	69202958	69202958	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69202958C>T	ENST00000344157.4	-	4	1005	c.670G>A	c.(670-672)Gag>Aag	p.E224K	YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K|YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1			30					tcatccacctcttcatcttct	0.478000																								0							SO:0001583	missense			ENST00000344157.4	1	1	hg19	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358313	0.61403	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28069	1.65;1.63	5.45	5.45	0.79879	.	0.191891	0.43747	D	0.000523	T	0.18841	0.0452	N	0.14661	0.345	0.52099	D	0.999948	P;P	0.40476	0.718;0.596	B;B	0.35353	0.201;0.099	T	0.05767	-1.0865	10	0.13853	T	0.58	.	18.894	0.92416	0.0:1.0:0.0:0.0	.	224;224	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	K	224	ENSP00000339245:E224K;ENSP00000347888:E224K	ENSP00000339245:E224K	E	-	1	0	YTHDC1	68885553	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.747000	0.74872	2.568000	0.86640	0.460000	0.39030	GAG		TCGA-IB-7651-01A-11D-2154-08	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	1	0	1	19	115	0	22	1	9.999455e-01	44	61	0	22	2		0	0	0	0	0	2	1	9.999880e-01	19	105	0	22	2								-11.640390	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998779	0.990000	1	9.900000e-01	1
YTHDC1	91746	broad.mit.edu	37	4	69203124	69203124	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69203124C>A	ENST00000344157.4	-	4	839	c.504G>T	c.(502-504)caG>caT	p.Q168H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1			30					CCTTAGAAGACTGGCTGGATC	0.448000																								0							SO:0001583	missense			ENST00000344157.4	1	1	hg19	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974390	0.18736	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.31247	1.98;1.5	5.55	-0.464	0.12160	.	0.373282	0.30556	N	0.009378	T	0.07234	0.0183	N	0.01874	-0.695	0.26789	N	0.969434	B;B	0.14438	0.01;0.0	B;B	0.12837	0.008;0.0	T	0.18681	-1.0329	10	0.13108	T	0.6	.	0.0924	0.00041	0.2468:0.2578:0.1973:0.2981	.	168;168	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	168	ENSP00000339245:Q168H;ENSP00000347888:Q168H	ENSP00000339245:Q168H	Q	-	3	2	YTHDC1	68885719	0.346000	0.24844	1.000000	0.80357	0.992000	0.81027	-0.417000	0.07088	0.137000	0.18759	0.460000	0.39030	CAG		TCGA-IB-7651-01A-11D-2154-08	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	1	0	1	86	376	0	90	1	1	41	92	0	90	2		0	0	0	0	0	2	1	1	85	370	0	89	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D14	57533	broad.mit.edu	37	4	6925330	6925330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6925330G>A	ENST00000409757.4	+	2	338	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14			22					TCCTACCCTGGAGATCGGGAA	0.657000																								0							SO:0001583	missense			ENST00000409757.4	1	1	hg19	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	35	5.456469	0.96223	.	.	ENSG00000132405	ENST00000444368;ENST00000448507;ENST00000409757	T;T;T	0.61627	0.09;2.89;2.89	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.69529	-0.5121	10	0.59425	D	0.04	-28.4738	17.0989	0.86644	0.0:0.0:1.0:0.0	.	72	Q9P2M4	TBC14_HUMAN	K	72	ENSP00000414951:E72K;ENSP00000404041:E72K;ENSP00000386921:E72K	ENSP00000386921:E72K	E	+	1	0	TBC1D14	6976231	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.256000	0.89848	2.519000	0.84933	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	1	0	1	83	340	0	76	1	9.999782e-01	14	52	0	76	2		0	0	0	0	0	2	1	1	80	335	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS11E	28983	broad.mit.edu	37	4	69327568	69327568	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69327568T>G	ENST00000305363.4	+	2	105	c.41T>G	c.(40-42)gTt>gGt	p.V14G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E			24					AGGAAAAGAGTTTGTTGGGAA	0.418000																								0							SO:0001583	missense			ENST00000305363.4	1	1	hg19	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	4.731	0.135857	0.09032	.	.	ENSG00000087128	ENST00000305363	D	0.88431	-2.38	6.03	-3.21	0.05140	.	1.765520	0.03708	N	0.249810	T	0.72946	0.3524	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.60151	-0.7319	10	0.23302	T	0.38	.	1.6525	0.02775	0.116:0.3202:0.2232:0.3406	.	14	Q9UL52	TM11E_HUMAN	G	14	ENSP00000307519:V14G	ENSP00000307519:V14G	V	+	2	0	TMPRSS11E	69010163	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.299000	0.02754	-0.480000	0.06803	0.455000	0.32223	GTT		TCGA-IB-7651-01A-11D-2154-08	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	0	0	1	311	1356	0	306	0	0	0	1	0	306	2		0	0	0	0	0	2	1	1	305	1324	0	306	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMPRSS11E	28983	broad.mit.edu	37	4	69344605	69344605	+	Missense_Mutation	SNP	C	C	T	rs138430854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69344605C>T	ENST00000305363.4	+	9	1070	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	p.L336F(1)		24					ACAGGTGACTCTCATAGACGC	0.353000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000305363.4	1	1	hg19	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	7.683	0.689438	0.14973	.	.	ENSG00000087128	ENST00000305363	D	0.90004	-2.6	5.31	0.312	0.15837	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.200210	0.06213	N	0.685374	D	0.87116	0.6097	M	0.76838	2.35	0.09310	N	0.999998	B	0.17667	0.023	B	0.19148	0.024	T	0.72836	-0.4172	10	0.56958	D	0.05	.	3.2715	0.06883	0.2626:0.3631:0.0:0.3743	.	336	Q9UL52	TM11E_HUMAN	F	336	ENSP00000307519:L336F	ENSP00000307519:L336F	L	+	1	0	TMPRSS11E	69027200	0.000000	0.05858	0.093000	0.20910	0.342000	0.28953	-0.337000	0.07852	0.316000	0.23135	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	1	0	1	131	637	0	186	0	7.845003e-02	0	3	0	186	2		0	0	0	0	0	2	1	1	127	616	0	184	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGT2B15	7366	broad.mit.edu	37	4	69519975	69519975	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69519975C>T	ENST00000338206.5	-	5	1103		c.e5-1			NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15							Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TTGGGATGACCTAAAAGTGGA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000338206.5	0	1	hg19	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	.	6.810	0.518474	0.13005	.	.	ENSG00000196620	ENST00000338206	.	.	.	2.57	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2985	0.26408	0.0:0.8554:0.0:0.1446	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2B15	69202570	1.000000	0.71417	0.935000	0.37517	0.127000	0.20565	3.361000	0.52306	0.398000	0.25338	0.455000	0.32223	.		TCGA-IB-7651-01A-11D-2154-08	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	0	0	0	23	611	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	9.999986e-01	21	572	0	136	2								-2.927097	1	1	121406	1	31	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.430000	0.280000	1.000000	0.430000	0.474312	0.430000	0	3.500000e-01	5.500000e-01
UGT2B10	7365	broad.mit.edu	37	4	69682216	69682216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69682216C>T	ENST00000265403.7	+	1	506	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10			29					GAGCTGCTGGCTGAGCTATTT	0.393000													Melanoma(133;755 1763 25578 26334 46021)											0							SO:0001583	missense			ENST00000265403.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	17.94	3.510973	0.64522	.	.	ENSG00000109181	ENST00000265403	T	0.74421	-0.84	2.63	2.63	0.31362	.	0.000000	0.64402	U	0.000009	D	0.84456	0.5476	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	D	0.86687	0.1920	10	0.87932	D	0	.	10.7026	0.45937	0.0:1.0:0.0:0.0	.	160	P36537	UDB10_HUMAN	V	160	ENSP00000265403:A160V	ENSP00000265403:A160V	A	+	2	0	UGT2B10	69716805	1.000000	0.71417	0.275000	0.24674	0.013000	0.08279	6.485000	0.73625	1.309000	0.44985	0.184000	0.17185	GCT		TCGA-IB-7651-01A-11D-2154-08	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	0	0	1	109	564	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1	106	542	0	148	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGT2A3	79799	broad.mit.edu	37	4	69796399	69796399	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69796399C>T	ENST00000251566.4	-	5	1199	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3			36					TATGGGAACTCCCACCATAGG	0.403000																								0							SO:0001583	missense			ENST00000251566.4	1	1	hg19	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533671	0.27387	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.63580	-0.05;3.15	1.99	1.99	0.26369	.	0.060660	0.64402	D	0.000004	D	0.82403	0.5029	H	0.97291	3.975	0.35821	D	0.824608	D	0.89917	1.0	D	0.97110	1.0	D	0.83940	0.0311	10	0.54805	T	0.06	.	5.7269	0.18018	0.318:0.6819:0.0:0.0	.	390	Q6UWM9	UD2A3_HUMAN	E	390;101	ENSP00000251566:G390E;ENSP00000440115:G101E	ENSP00000251566:G390E	G	-	2	0	UGT2A3	69830988	0.959000	0.32827	0.429000	0.26710	0.147000	0.21601	2.751000	0.47508	1.094000	0.41399	0.491000	0.48974	GGA		TCGA-IB-7651-01A-11D-2154-08	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	1	0	0	35	418	0	104	0	5.473685e-01	1	22	0	104	2		0	0	0	0	0	2	1	1	35	414	0	104	2								-3.142702	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.920000	0.650000	1.000000	1.000000	0.901833	0.920000	1	7.700000e-01	1
TBC1D14	57533	broad.mit.edu	37	4	7008409	7008409	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7008409C>T	ENST00000409757.4	+	9	1526	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	TBC1D14_ENST00000410031.1_Silent_p.L240L|TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000448507.1_Silent_p.L468L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14			22					GCTTATTAAACTGGACATTTC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000409757.4	1	1	hg19	CCDS3394.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	1	0	1	45	246	0	63	1	9.999999e-01	30	105	0	63	2		0	0	0	0	0	2	1	1	43	238	0	62	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
UGT2B4	7363	broad.mit.edu	37	4	70360997	70360997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70360997G>A	ENST00000305107.6	-	1	629	c.583C>T	c.(583-585)Cct>Tct	p.P195S	UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4			47				Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ATAACAACAGGCACATAGGAA	0.388000																								0							SO:0001583	missense			ENST00000305107.6	1	1	hg19	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209295	0.58343	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.62941	-0.01;-0.01;2.95	2.4	2.4	0.29515	.	0.000000	0.64402	U	0.000007	D	0.83166	0.5195	H	0.96269	3.795	0.35731	D	0.817919	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.994;0.987;1.0	D	0.89039	0.3447	10	0.87932	D	0	.	10.537	0.45009	0.0:0.0:1.0:0.0	.	59;195;195	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	S	195;195;59	ENSP00000421290:P195S;ENSP00000305221:P195S;ENSP00000370486:P59S	ENSP00000305221:P195S	P	-	1	0	UGT2B4	70395586	1.000000	0.71417	0.029000	0.17559	0.018000	0.09664	6.735000	0.74806	1.338000	0.45544	0.298000	0.19748	CCT		TCGA-IB-7651-01A-11D-2154-08	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	1	0	1	44	272	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	43	268	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
CCDC96	257236	broad.mit.edu	37	4	7044246	7044246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7044246G>T	ENST00000310085.4	-	1	482	c.420C>A	c.(418-420)ttC>ttA	p.F140L	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96			11					GAGAGGCCTGGAACCTGACTT	0.701000																								0							SO:0001583	missense			ENST00000310085.4	1	1	hg19	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898438	0.33535	.	.	ENSG00000173013	ENST00000310085	T	0.47177	0.85	3.43	-2.32	0.06745	.	.	.	.	.	T	0.24586	0.0596	N	0.19112	0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	9	0.27785	T	0.31	-0.006	2.5398	0.04722	0.2174:0.4506:0.2026:0.1294	.	140	Q2M329	CCD96_HUMAN	L	140	ENSP00000309285:F140L	ENSP00000309285:F140L	F	-	3	2	CCDC96	7095147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-0.314000	0.08716	-0.373000	0.07131	TTC		TCGA-IB-7651-01A-11D-2154-08	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	1	0	0	44	219	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	42	213	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SULT1B1	27284	broad.mit.edu	37	4	70599155	70599155	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70599155A>C	ENST00000310613.3	-	6	870	c.573T>G	c.(571-573)ttT>ttG	p.F191L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1			24					CATAGTACAAAAAAAGTATTG	0.343000																								0							SO:0001583	missense			ENST00000310613.3	0	1	hg19	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353006	0.61293	.	.	ENSG00000173597	ENST00000310613	D	0.82344	-1.6	4.42	0.613	0.17597	Sulfotransferase domain (1);	0.436101	0.19435	N	0.114331	D	0.83198	0.5202	M	0.80422	2.495	0.26873	N	0.967719	P	0.49696	0.927	P	0.46796	0.527	T	0.75947	-0.3138	10	0.62326	D	0.03	.	8.0085	0.30340	0.4717:0.0:0.5283:0.0	.	191	O43704	ST1B1_HUMAN	L	191	ENSP00000308770:F191L	ENSP00000308770:F191L	F	-	3	2	SULT1B1	70633744	1.000000	0.71417	0.476000	0.27291	0.794000	0.44872	2.399000	0.44495	0.111000	0.17947	-0.696000	0.03686	TTT		TCGA-IB-7651-01A-11D-2154-08	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	0	0	0	15	747	0	144	0	9.824795e-02	0	25	0	144	2		0	0	0	0	0	2	1	9.998599e-01	15	739	0	143	2								-11.515350	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.240000	0.130000	1.000000	0.230000	0.288336	0.240000	0	1.800000e-01	3.200000e-01
GRPEL1	80273	broad.mit.edu	37	4	7062618	7062618	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062618C>T	ENST00000264954.4	-	4	789	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)			5					CCCACCAGGGCGGGTCTCAGA	0.542000																								0							SO:0001583	missense			ENST00000264954.4	1	1	hg19	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734855	0.96865	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	5.65	0.86999	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89449	0.3729	9	0.87932	D	0	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	209	Q9HAV7	GRPE1_HUMAN	T	209;188	.	ENSP00000264954:A209T	A	-	1	0	GRPEL1	7113519	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.305000	0.78891	2.659000	0.90383	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	0	0	0	46	1061	0	278	1	9.994711e-01	20	233	0	278	2		0	0	0	0	0	2	1	1	47	1035	0	277	2								-4.636711	1	1	121412	1	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.490000	0.360000	1.000000	0.490000	0.527334	0.490000	0	4.200000e-01	5.900000e-01
GRPEL1	80273	broad.mit.edu	37	4	7062915	7062915	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062915C>T	ENST00000264954.4	-	4	492	c.328G>A	c.(328-330)Gac>Aac	p.D110N	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)			5					TCCAACAAGTCCTTGCAGAAG	0.468000																								0							SO:0001583	missense			ENST00000264954.4	1	1	hg19	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162717	0.94727	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.53	5.53	0.82687	GrpE nucleotide exchange factor, coiled-coil (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85677	0.1298	9	0.66056	D	0.02	.	19.4473	0.94852	0.0:1.0:0.0:0.0	.	110	Q9HAV7	GRPE1_HUMAN	N	110;89	.	ENSP00000264954:D110N	D	-	1	0	GRPEL1	7113816	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.312000	0.78968	2.590000	0.87494	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	0	0	0	16	457	0	92	1	9.985931e-01	23	284	0	92	2		0	0	0	0	0	2	1	9.999269e-01	15	451	0	91	2								-3.550012	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.410000	0.240000	1.000000	0.390000	0.451714	0.410000	0	3.100000e-01	5.400000e-01
C4orf40	0	broad.mit.edu	37	4	71024115	71024115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024115C>A	ENST00000344526.5	+	3	335	c.146C>A	c.(145-147)cCt>cAt	p.P49H	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN				12					AATTTACCACCTCCTCTTTAT	0.438000																								0							SO:0001583	missense			ENST00000344526.5	1	1	hg19	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906477	0.33628	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.62639	0.01;0.01	3.24	1.51	0.23008	.	.	.	.	.	T	0.60064	0.2240	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.46652	-0.9176	9	0.37606	T	0.19	-5.0476	5.5143	0.16898	0.0:0.7401:0.0:0.2598	.	49	Q6MZM9	CD040_HUMAN	H	49	ENSP00000426249:P49H;ENSP00000343172:P49H	ENSP00000343172:P49H	P	+	2	0	C4orf40	71058704	0.009000	0.17119	0.001000	0.08648	0.010000	0.07245	1.449000	0.35123	0.397000	0.25310	-0.192000	0.12808	CCT		TCGA-IB-7651-01A-11D-2154-08	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1	1	0	1	128	682	0	186		0	0	0	0	186	2		0	0	0	0	0	2	1	1	126	664	0	184	2								-3.319317	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C4orf40	0	broad.mit.edu	37	4	71024336	71024336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024336G>A	ENST00000344526.5	+	3	556	c.367G>A	c.(367-369)Gca>Aca	p.A123T	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN				12					AGCAGCTGCAGCACCCGCTGC	0.577000																								0							SO:0001583	missense			ENST00000344526.5	1	1	hg19	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648313	0.29336	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32753	1.44;1.44	4.76	2.04	0.26737	.	.	.	.	.	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.59487	0.858	T	0.08743	-1.0707	9	0.40728	T	0.16	-0.1649	6.191	0.20524	0.3191:0.0:0.6809:0.0	.	123	Q6MZM9	CD040_HUMAN	T	123	ENSP00000426249:A123T;ENSP00000343172:A123T	ENSP00000343172:A123T	A	+	1	0	C4orf40	71058925	0.003000	0.15002	0.000000	0.03702	0.078000	0.17371	0.868000	0.27982	0.548000	0.28955	0.609000	0.83330	GCA		TCGA-IB-7651-01A-11D-2154-08	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1	1	0	1	151	715	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	1	151	704	0	157	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C4orf40	0	broad.mit.edu	37	4	71024410	71024410	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024410G>T	ENST00000344526.5	+	3	630	c.441G>T	c.(439-441)gaG>gaT	p.E147D	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN				12					TAGCAGCTGAGCCTGCTGCAG	0.617000																								0							SO:0001583	missense			ENST00000344526.5	1	1	hg19	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803175	0.16397	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32272	1.46;1.46	4.64	-9.27	0.00659	.	.	.	.	.	T	0.11623	0.0283	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18398	-1.0338	9	0.22109	T	0.4	0.2678	5.6229	0.17467	0.5778:0.0866:0.2482:0.0874	.	147	Q6MZM9	CD040_HUMAN	D	147	ENSP00000426249:E147D;ENSP00000343172:E147D	ENSP00000343172:E147D	E	+	3	2	C4orf40	71058999	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.151000	0.10175	-2.808000	0.00349	-2.602000	0.00161	GAG		TCGA-IB-7651-01A-11D-2154-08	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1	1	0	1	87	349	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	86	341	0	67	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ODAM	54959	broad.mit.edu	37	4	71066290	71066290	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71066290A>G	ENST00000396094.2	+	6	548	c.500A>G	c.(499-501)cAa>cGa	p.Q167R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated			20					TCACCTCAACAAACAAGACAG	0.373000																								0							SO:0001583	missense			ENST00000396094.2	1	1	hg19	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308310	0.40895	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.50277	0.75;0.75	5.22	1.05	0.20165	.	0.525126	0.16190	N	0.225453	T	0.33323	0.0859	L	0.50333	1.59	0.09310	N	1	B	0.25390	0.125	B	0.20955	0.032	T	0.19031	-1.0318	10	0.38643	T	0.18	0.1088	2.0449	0.03558	0.5865:0.1654:0.089:0.1591	.	167	A1E959	ODAM_HUMAN	R	167;153;120	ENSP00000379401:Q167R;ENSP00000426106:Q120R	ENSP00000379401:Q167R	Q	+	2	0	ODAM	71100879	0.545000	0.26449	0.034000	0.17996	0.002000	0.02628	1.020000	0.30027	0.406000	0.25560	-0.290000	0.09829	CAA		TCGA-IB-7651-01A-11D-2154-08	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	1	0	1	31	110	0	34	1	1	107	38	0	34	2		0	0	0	0	0	2	1	1	30	105	0	34	2								-19.967200	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMTN	401138	broad.mit.edu	37	4	71384505	71384505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71384505C>T	ENST00000339336.4	+	2	141	c.11C>T	c.(10-12)aCg>aTg	p.T4M	AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin			19			Lung(101;0.235)		ATGAGGAGTACGATTCTACTG	0.338000																								0							SO:0001583	missense			ENST00000339336.4	1	1	hg19	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101948	0.01828	2.27E-4	0.0	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.30714	1.52;1.52	5.76	-6.78	0.01721	.	2.215910	0.01532	N	0.018838	T	0.18551	0.0445	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.25257	-1.0137	10	0.29301	T	0.29	15.6161	16.5503	0.84471	0.0:0.3278:0.0:0.6722	.	4;4	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	M	4	ENSP00000341013:T4M;ENSP00000422452:T4M	ENSP00000341013:T4M	T	+	2	0	AMTN	71419094	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.921000	0.01569	-2.864000	0.00326	-1.814000	0.00607	ACG		TCGA-IB-7651-01A-11D-2154-08	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	1	0	1	83	435	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	83	426	1	70	23								-20.000000	1	1	121404	3	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMTN	401138	broad.mit.edu	37	4	71396761	71396761	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71396761A>C	ENST00000339336.4	+	8	493	c.363A>C	c.(361-363)caA>caC	p.Q121H	AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin			19			Lung(101;0.235)		TCCAGCCACAAATCTTCACGA	0.478000																								0							SO:0001583	missense			ENST00000339336.4	1	1	hg19	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.062974	0.19987	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.70045	-0.45;-0.45	6.01	-3.7	0.04437	.	0.365001	0.24285	N	0.039878	T	0.45736	0.1357	L	0.32530	0.975	0.19300	N	0.999972	B;B	0.27140	0.169;0.169	B;B	0.25884	0.064;0.064	T	0.32107	-0.9919	10	0.51188	T	0.08	-0.0032	6.0287	0.19669	0.32:0.3932:0.2867:0.0	.	120;121	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	H	121;120	ENSP00000341013:Q121H;ENSP00000422452:Q120H	ENSP00000341013:Q121H	Q	+	3	2	AMTN	71431350	0.993000	0.37304	0.090000	0.20809	0.062000	0.15995	0.194000	0.17135	-0.335000	0.08451	-0.321000	0.08615	CAA		TCGA-IB-7651-01A-11D-2154-08	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	1	0	0	42	158	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	1	41	145	0	26	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMBN	258	broad.mit.edu	37	4	71472130	71472130	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71472130A>G	ENST00000322937.6	+	13	1130	c.1027A>G	c.(1027-1029)Aca>Gca	p.T343A	AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)			29			Lung(101;0.235)		AGCTTTCCTTACAGAGCTAGA	0.582000																								0							SO:0001583	missense			ENST00000322937.6	1	1	hg19	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	A	5.295	0.239752	0.10023	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.29917	1.55;1.55	5.7	-8.38	0.00973	.	0.853066	0.10180	N	0.705992	T	0.13286	0.0322	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.24541	0.054	T	0.26121	-1.0112	10	0.56958	D	0.05	1.0762	0.207	0.00152	0.3172:0.1473:0.2035:0.332	.	343	Q9NP70	AMBN_HUMAN	A	343;342;328	ENSP00000313809:T343A;ENSP00000391234:T328A	ENSP00000313809:T343A	T	+	1	0	AMBN	71506719	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-1.646000	0.01998	-2.229000	0.00720	-1.560000	0.00886	ACA		TCGA-IB-7651-01A-11D-2154-08	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	1	0	1	44	184	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	43	180	0	46	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENAM	10117	broad.mit.edu	37	4	71508510	71508510	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71508510G>A	ENST00000396073.3	+	9	1648	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin			6			Lung(101;0.235)		AATCCAACCAGCCCCTGGAGA	0.388000																								0							SO:0001583	missense			ENST00000396073.3	1	1	hg19	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	7.141	0.581836	0.13749	.	.	ENSG00000132464	ENST00000396073	T	0.35973	1.28	5.93	2.02	0.26589	.	0.623927	0.16087	N	0.230252	T	0.19208	0.0461	L	0.33485	1.01	0.09310	N	1	P	0.39940	0.696	B	0.35550	0.205	T	0.08351	-1.0726	10	0.25106	T	0.35	-1.0E-4	1.8656	0.03198	0.1769:0.1605:0.497:0.1656	.	456	Q9NRM1	ENAM_HUMAN	N	456	ENSP00000379383:S456N	ENSP00000379383:S456N	S	+	2	0	ENAM	71727374	0.000000	0.05858	0.235000	0.24058	0.080000	0.17528	0.331000	0.19733	0.388000	0.25054	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	1	0	1	61	227	0	45	0	2.033048e-01	1	3	0	45	2		0	0	0	0	0	2	1	1	60	223	0	45	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENAM	10117	broad.mit.edu	37	4	71510041	71510041	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510041A>C	ENST00000396073.3	+	9	3179	c.2898A>C	c.(2896-2898)caA>caC	p.Q966H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin			6			Lung(101;0.235)		AACTGGGCCAAAAGGAAATTA	0.433000																								0							SO:0001583	missense			ENST00000396073.3	1	1	hg19	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	7.698	0.692445	0.15039	.	.	ENSG00000132464	ENST00000396073	T	0.38240	1.15	5.97	-2.09	0.07232	.	0.520767	0.17726	N	0.164066	T	0.38241	0.1033	M	0.84683	2.71	0.09310	N	1	P	0.43094	0.799	P	0.44946	0.465	T	0.36089	-0.9762	10	0.87932	D	0	-1.4631	1.4747	0.02423	0.3903:0.1475:0.319:0.1432	.	966	Q9NRM1	ENAM_HUMAN	H	966	ENSP00000379383:Q966H	ENSP00000379383:Q966H	Q	+	3	2	ENAM	71728905	0.000000	0.05858	0.016000	0.15963	0.025000	0.11179	-0.121000	0.10643	-0.095000	0.12351	-0.256000	0.11100	CAA		TCGA-IB-7651-01A-11D-2154-08	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	1	0	1	95	312	0	96	0	0	0	1	0	96	2		0	0	0	0	0	2	1	1	95	305	0	96	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENAM	10117	broad.mit.edu	37	4	71510303	71510303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510303C>A	ENST00000396073.3	+	9	3441	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin			6			Lung(101;0.235)		TAACATTCTGCATTTGCCATG	0.458000																								0							SO:0001583	missense			ENST00000396073.3	1	1	hg19	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.472	1.095920	0.20552	.	.	ENSG00000132464	ENST00000396073	T	0.28666	1.6	5.95	0.457	0.16661	.	1.115720	0.06709	N	0.772753	T	0.22322	0.0538	N	0.22421	0.69	0.09310	N	1	B	0.32101	0.356	B	0.33196	0.159	T	0.35151	-0.9800	10	0.59425	D	0.04	0.5967	8.4848	0.33065	0.6254:0.2979:0.0:0.0767	.	1054	Q9NRM1	ENAM_HUMAN	N	1054	ENSP00000379383:H1054N	ENSP00000379383:H1054N	H	+	1	0	ENAM	71729167	0.031000	0.19500	0.080000	0.20451	0.656000	0.38851	0.220000	0.17660	0.265000	0.21872	0.655000	0.94253	CAT		TCGA-IB-7651-01A-11D-2154-08	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	1	0	1	71	325	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	1	70	319	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGJ	3512	broad.mit.edu	37	4	71522187	71522187	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71522187G>T	ENST00000254801.4	-	4	508	c.339C>A	c.(337-339)atC>atA	p.I113I	IGJ_ENST00000543780.1_Silent_p.I129I|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides			7			Lung(101;0.235)		CTTCATCACAGATATTGCTCT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000254801.4	1	1	hg19	CCDS3545.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	1	0	0	69	254	0	63	0	1	1	7369	0	63	2		0	0	0	0	0	2	1	1	69	247	0	62	2								-3.816356	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UTP3	57050	broad.mit.edu	37	4	71555130	71555130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71555130C>T	ENST00000254803.2	+	1	935	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)			18			Lung(101;0.235)		TGAGCTGGAGCCATTGTTAGA	0.438000																								0							SO:0001583	missense			ENST00000254803.2	1	1	hg19	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367264	0.82463	.	.	ENSG00000132467	ENST00000254803	T	0.37584	1.19	5.44	5.44	0.79542	.	0.167126	0.53938	D	0.000054	T	0.64416	0.2596	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65183	-0.6230	10	0.45353	T	0.12	-28.2254	19.2714	0.94011	0.0:1.0:0.0:0.0	.	246	Q9NQZ2	SAS10_HUMAN	S	246	ENSP00000254803:P246S	ENSP00000254803:P246S	P	+	1	0	UTP3	71773994	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.389000	0.73199	2.542000	0.85734	0.603000	0.83216	CCA		TCGA-IB-7651-01A-11D-2154-08	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	1	0	1	78	360	0	83	1	1	55	134	0	83	2		0	0	0	0	0	2	1	1	75	356	0	80	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RUFY3	22902	broad.mit.edu	37	4	71648856	71648856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71648856C>T	ENST00000226328.4	+	9	1506	c.943C>T	c.(943-945)Cga>Tga	p.R315*	RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3			16		all_hematologic(202;0.248)	Lung(101;0.235)		AGAAATGGAACGAGTTAAAGA	0.308000																								0							SO:0001587	stop_gained			ENST00000226328.4	0	1	hg19	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	37	6.280902	0.97440	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-10.6392	14.6544	0.68823	0.1453:0.8547:0.0:0.0	.	.	.	.	X	375;315;315;299;262	.	ENSP00000226328:R315X	R	+	1	2	RUFY3	71867720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.594000	0.36697	2.683000	0.91414	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	1	0	1	27	149	0	34	1	9.964373e-01	2	50	0	34	2		0	0	0	0	0	2	1	1	27	147	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
RUFY3	22902	broad.mit.edu	37	4	71650581	71650581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71650581G>T	ENST00000226328.4	+	10	1619	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D|RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3			16		all_hematologic(202;0.248)	Lung(101;0.235)		TAAAAGAAGAGACACAATTAC	0.338000																								0							SO:0001583	missense			ENST00000226328.4	1	1	hg19	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179929	0.57800	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.75	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.61218	1.895	0.58432	D	0.999993	B;D;D;D	0.89917	0.362;1.0;0.984;0.957	B;D;D;P	0.76071	0.217;0.987;0.935;0.723	T	0.01280	-1.1397	10	0.62326	D	0.03	-28.1233	10.1524	0.42803	0.3772:0.0:0.6228:0.0	.	336;352;352;412	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	D	412;352;352;336;299	ENSP00000399771:E412D;ENSP00000370394:E352D;ENSP00000226328:E352D;ENSP00000443652:E336D;ENSP00000425400:E299D	ENSP00000226328:E352D	E	+	3	2	RUFY3	71869445	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.523000	0.35932	0.460000	0.27045	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	1	0	1	14	70	0	19	0	9.952791e-01	0	49	0	19	2		0	0	0	0	0	2	1	9.998293e-01	14	69	0	19	2								-19.999990	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998952	0.990000	1	9.900000e-01	1
GRSF1	2926	broad.mit.edu	37	4	71693715	71693715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71693715C>T	ENST00000254799.6	-	6	1106	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1			17		all_hematologic(202;0.21)	Lung(101;0.235)		GACATGTGTTCGAACTTCATT	0.353000																								0							SO:0001583	missense			ENST00000254799.6	1	1	hg19	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.323593|5.323593	0.95708|0.95708	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	.|T;T;T;T;T	.|0.06371	.|3.31;3.31;3.31;3.31;3.31	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Nucleotide-binding, alpha-beta plait (1);	.|0.268407	.|0.37857	.|N	.|0.001914	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.24115|0.24115	0.695|0.695	0.50632|0.50632	D|D	0.999887|0.999887	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.92;0.992	T|T	0.29458|0.29458	-1.0011|-1.0011	6|10	0.13108|0.17369	T|T	0.6|0.5	-0.9839|-0.9839	19.424|19.424	0.94734|0.94734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|243;330	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	K|Q	267|330;168;262;303;168;212	.|ENSP00000254799:R330Q;ENSP00000389219:R168Q;ENSP00000427354:R303Q;ENSP00000425430:R168Q;ENSP00000443380:R212Q	ENSP00000427644:E95K|ENSP00000254799:R330Q	E|R	-|-	1|2	0|0	GRSF1|GRSF1	71912579|71912579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.468000|2.468000	0.45102|0.45102	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAA|CGA		TCGA-IB-7651-01A-11D-2154-08	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	1	0	1	67	268	0	66	1	1	138	324	0	66	2		0	0	0	0	0	2	1	1	65	262	0	65	2								-3.542227	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPFFR2	10886	broad.mit.edu	37	4	72897828	72897828	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72897828T>C	ENST00000308744.6	+	1	308	c.210T>C	c.(208-210)agT>agC	p.S70S	NPFFR2_ENST00000344413.5_Silent_p.S70S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2			43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		CTGCGAAAAGTAGCTGGAGCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000308744.6	1	1	hg19	CCDS3551.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	1	0	1	36	161	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	35	157	0	30	2								-20.000000	1	1	121408	1	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NPFFR2	10886	broad.mit.edu	37	4	72994599	72994599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72994599C>A	ENST00000308744.6	+	2	695	c.597C>A	c.(595-597)ttC>ttA	p.F199L	NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2			43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		TTGGCATATTCTGCATGCCTA	0.368000																								0							SO:0001583	missense			ENST00000308744.6	1	1	hg19	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244796	0.59103	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.69175	-0.38;-0.38;-0.38	5.75	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.68366	0.2993	L	0.55743	1.74	0.58432	D	0.999999	P;P	0.50710	0.924;0.938	P;P	0.54372	0.635;0.75	T	0.65063	-0.6259	10	0.29301	T	0.29	.	9.2198	0.37370	0.0:0.7274:0.0:0.2726	.	100;199	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	199;100;97	ENSP00000307822:F199L;ENSP00000379321:F100L;ENSP00000351599:F97L	ENSP00000307822:F199L	F	+	3	2	NPFFR2	73213463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.605000	0.36815	1.362000	0.46000	0.650000	0.86243	TTC		TCGA-IB-7651-01A-11D-2154-08	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	1	0	1	118	522	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	1	116	514	0	141	2								-20.000000	1	1	121410	1	35	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS3	9508	broad.mit.edu	37	4	73161482	73161482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73161482C>A	ENST00000286657.4	-	19	2648	c.2612G>T	c.(2611-2613)gGa>gTa	p.G871V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		CCTACGGCATCCATATTTAGT	0.363000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001583	missense			ENST00000286657.4	1	1	hg19	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053048	0.75960	.	.	ENSG00000156140	ENST00000286657	T	0.59364	0.27	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.67258	0.2874	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60469	-0.7257	10	0.14656	T	0.56	.	18.6029	0.91255	0.0:1.0:0.0:0.0	.	871	O15072	ATS3_HUMAN	V	871	ENSP00000286657:G871V	ENSP00000286657:G871V	G	-	2	0	ADAMTS3	73380346	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	7.776000	0.85560	2.379000	0.81126	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1	81	331	0	89	0	0	0	1	0	89	2		0	0	0	0	0	2	1	1	80	323	0	86	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS3	9508	broad.mit.edu	37	4	73175167	73175167	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73175167T>C	ENST00000286657.4	-	15	2162	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		GCAGTGGGAATTATCTCCTCC	0.433000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001583	missense			ENST00000286657.4	1	1	hg19	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271527	0.59649	.	.	ENSG00000156140	ENST00000286657	T	0.66460	-0.21	5.53	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.71920	2.185	0.49483	D	0.999796	P	0.48911	0.917	B	0.41412	0.356	T	0.67333	-0.5697	10	0.52906	T	0.07	.	11.4011	0.49871	0.0:0.0709:0.0:0.9291	.	709	O15072	ATS3_HUMAN	S	709	ENSP00000286657:N709S	ENSP00000286657:N709S	N	-	2	0	ADAMTS3	73394031	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.938000	0.70170	1.040000	0.40099	0.455000	0.32223	AAT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1	72	337	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	1	69	330	0	94	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS3	9508	broad.mit.edu	37	4	73181645	73181645	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73181645G>T	ENST00000286657.4	-	11	1565	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		GGGATTATCAGGATGGCTACA	0.403000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001583	missense			ENST00000286657.4	1	1	hg19	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426721	0.83667	.	.	ENSG00000156140	ENST00000286657	T	0.65732	-0.17	5.63	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80144	-0.1505	10	0.66056	D	0.02	.	14.4007	0.67044	0.071:0.0:0.929:0.0	.	510	O15072	ATS3_HUMAN	H	510	ENSP00000286657:P510H	ENSP00000286657:P510H	P	-	2	0	ADAMTS3	73400509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	1.377000	0.46286	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1	41	214	0	50	0	2.562503e-01	0	6	0	50	2		0	0	0	0	0	2	1	1	41	209	0	50	2								-2.834688	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ADAMTS3	9508	broad.mit.edu	37	4	73185142	73185142	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73185142G>T	ENST00000286657.4	-	9	1295	c.1259C>A	c.(1258-1260)gCt>gAt	p.A420D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		ACTTCCCATAGCAGTCTCATC	0.488000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001583	missense			ENST00000286657.4	0	1	hg19	CCDS3553.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.27	3.347610	0.61183	.	.	ENSG00000156140	ENST00000286657	D	0.86230	-2.09	5.61	5.61	0.85477	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	N	0.25094	0.71	0.54753	D	0.999983	D	0.60160	0.987	D	0.66497	0.944	D	0.83361	0.0002	10	0.12766	T	0.61	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	420	O15072	ATS3_HUMAN	D	420	ENSP00000286657:A420D	ENSP00000286657:A420D	A	-	2	0	ADAMTS3	73404006	0.928000	0.31464	0.209000	0.23619	0.893000	0.52053	3.955000	0.56715	2.802000	0.96397	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	0	0	0	6	294	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	9.627691e-01	6	288	0	51	2								-6.682810	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.260000	0.100000	1.000000	0.230000	0.310714	0.260000	0	1.600000e-01	4.000000e-01
ADAMTS3	9508	broad.mit.edu	37	4	73188804	73188804	+	Missense_Mutation	SNP	A	A	C	rs61757480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73188804A>C	ENST00000286657.4	-	6	908	c.872T>G	c.(871-873)aTt>aGt	p.I291S	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		ATCATGGTAAATTTCATTCAC	0.358000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001583	missense			ENST00000286657.4	1	1	hg19	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629833	0.87660	.	.	ENSG00000156140	ENST00000286657	T	0.66995	-0.24	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87671	0.2541	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	291	O15072	ATS3_HUMAN	S	291	ENSP00000286657:I291S	ENSP00000286657:I291S	I	-	2	0	ADAMTS3	73407668	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.699000	0.91316	2.324000	0.78689	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	0	133	564	0	171	0	9.656810e-02	0	3	0	171	2		0	0	0	0	0	2	1	1	131	554	0	171	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS3	9508	broad.mit.edu	37	4	73205355	73205355	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73205355C>T	ENST00000286657.4	-	5	753	c.717G>A	c.(715-717)caG>caA	p.Q239Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		CATTCAGCTGCTGGTGGATGT	0.478000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001819	synonymous_variant			ENST00000286657.4	1	1	hg19	CCDS3553.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1	183	814	0	172	0	3.393812e-02	0	2	0	172	2		0	0	0	0	0	2	1	1	181	801	0	170	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS3	9508	broad.mit.edu	37	4	73280626	73280626	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73280626C>T	ENST00000286657.4	-	4	603	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		CTTCCTCCATCTGTTTACCTC	0.378000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001819	synonymous_variant			ENST00000286657.4	1	1	hg19	CCDS3553.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	0	20	273	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	9.999952e-01	20	268	0	70	2								-6.721884	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.820000	0.510000	1.000000	1.000000	0.822064	0.820000	0	6.500000e-01	1
ADAMTS3	9508	broad.mit.edu	37	4	73414462	73414462	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73414462C>T	ENST00000286657.4	-	3	273	c.237G>A	c.(235-237)caG>caA	p.Q79Q	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		TAAAGAACAACTGCTCAGGGT	0.483000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001819	synonymous_variant			ENST00000286657.4	1	1	hg19	CCDS3553.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	0	91	337	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	86	331	0	85	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD17	26057	broad.mit.edu	37	4	73944497	73944497	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73944497G>T	ENST00000358602.4	-	31	7386	c.7270C>A	c.(7270-7272)Cca>Aca	p.P2424T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17			96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		ATAGGGACTGGAACTTTCCTG	0.498000																								0							SO:0001583	missense			ENST00000358602.4	1	1	hg19	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070760	0.76301	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	D;D;D	0.89552	-2.28;-2.29;-2.53	5.9	5.9	0.94986	.	0.090952	0.47455	D	0.000234	D	0.90858	0.7128	L	0.57536	1.79	0.51233	D	0.999918	P;P;P;P	0.44429	0.835;0.835;0.745;0.745	B;P;B;B	0.47645	0.429;0.553;0.247;0.247	D	0.91150	0.4952	10	0.87932	D	0	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	2423;2173;2424;2311	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	2424;1831;2173;2311	ENSP00000351416:P2424T;ENSP00000332265:P2173T;ENSP00000427151:P2311T	ENSP00000332265:P2173T	P	-	1	0	ANKRD17	74163361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.798000	0.96311	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1	33	309	0	58	1	9.999997e-01	28	192	0	58	2		0	0	0	0	0	2	1	1	32	303	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.981626	0.990000	1	9.600000e-01	1
ANKRD17	26057	broad.mit.edu	37	4	73957906	73957906	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73957906T>G	ENST00000358602.4	-	29	5555	c.5439A>C	c.(5437-5439)tcA>tcC	p.S1813S	ANKRD17_ENST00000330838.6_Silent_p.S1562S|ANKRD17_ENST00000509867.2_Silent_p.S1700S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17			96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		TGGAATTTGCTGAGGAGCTTT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000358602.4	1	1	hg19	CCDS34004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1	157	676	0	123	1	1	31	95	0	123	2		0	0	0	0	0	2	1	1	154	654	0	122	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD17	26057	broad.mit.edu	37	4	73964157	73964157	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73964157C>T	ENST00000358602.4	-	26	4770	c.4654G>A	c.(4654-4656)Gca>Aca	p.A1552T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17			96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		TGAGAACCTGCCAAAGTTGTC	0.368000																								0							SO:0001583	missense			ENST00000358602.4	1	1	hg19	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793271	0.31685	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.63913	-0.07;-0.02;-0.04	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	T	0.40743	0.1129	N	0.05078	-0.115	0.40466	D	0.98029	B;B;B;B	0.20550	0.046;0.046;0.027;0.027	B;B;B;B	0.21360	0.034;0.034;0.015;0.006	T	0.44003	-0.9356	10	0.02654	T	1	.	19.7158	0.96119	0.0:1.0:0.0:0.0	.	1551;1301;1552;1439	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	1552;1301;1439	ENSP00000351416:A1552T;ENSP00000332265:A1301T;ENSP00000427151:A1439T	ENSP00000332265:A1301T	A	-	1	0	ANKRD17	74183021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.465000	0.53064	2.669000	0.90835	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1	67	322	0	65	1	9.999998e-01	39	72	0	65	2		0	0	0	0	0	2	1	1	67	316	0	65	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD17	26057	broad.mit.edu	37	4	73986015	73986015	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73986015A>G	ENST00000358602.4	-	21	4005	c.3889T>C	c.(3889-3891)Tat>Cat	p.Y1297H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17			96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		ACCTCCGCATATCCACCAGAG	0.428000																								0							SO:0001583	missense			ENST00000358602.4	1	1	hg19	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480170	0.63849	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.61742	0.08;0.08;0.08	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000011	T	0.46014	0.1371	N	0.00859	-1.14	0.53688	D	0.999977	B;D;D;D;D	0.89917	0.384;0.999;0.999;0.999;1.0	P;D;D;D;D	0.91635	0.808;0.996;0.996;0.998;0.999	T	0.59182	-0.7502	10	0.13108	T	0.6	.	15.9332	0.79683	1.0:0.0:0.0:0.0	.	818;1296;1046;1297;1184	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1297;1046;1184	ENSP00000351416:Y1297H;ENSP00000332265:Y1046H;ENSP00000427151:Y1184H	ENSP00000332265:Y1046H	Y	-	1	0	ANKRD17	74204879	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.164000	0.68074	0.477000	0.44152	TAT		TCGA-IB-7651-01A-11D-2154-08	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1	63	243	0	55	1	1	29	76	0	55	2		0	0	0	0	0	2	1	1	62	238	0	55	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD17	26057	broad.mit.edu	37	4	73990976	73990976	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73990976C>T	ENST00000358602.4	-	17	3404	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	ANKRD17_ENST00000330838.6_Silent_p.E845E|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.E983E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17			96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		GTACCAGTTCCTCGTGGCCAC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000358602.4	1	1	hg19	CCDS34004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	1	107	462	0	75	1	1	36	103	0	75	2		0	0	0	0	0	2	1	1	106	457	0	74	2								-3.200607	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD17	26057	broad.mit.edu	37	4	74124155	74124155	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124155G>A	ENST00000358602.4	-	1	347	c.231C>T	c.(229-231)aaC>aaT	p.N77N	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Silent_p.N77N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17			96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		GGCAAGTCCGGTTACGCTTGG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000358602.4	1	1	hg19	CCDS34004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	0	25	157	0	26	0	7.570767e-01	0	19	0	26	2		0	0	0	0	0	2	1	9.999998e-01	25	147	0	25	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999398	0.990000	1	9.900000e-01	1
ANKRD17	26057	broad.mit.edu	37	4	74124188	74124188	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124188C>T	ENST00000358602.4	-	1	314	c.198G>A	c.(196-198)ccG>ccA	p.P66P	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Silent_p.P66P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17			96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		GCTGCTGCGGCGGCTTCTTCT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000358602.4	1	1	hg19	CCDS34004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	1	0	0	19	80	0	14	1	7.035629e-01	4	8	0	14	2		0	0	0	0	0	2	1	9.999945e-01	19	78	0	12	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999932	0.990000	1	9.900000e-01	1
AFP	174	broad.mit.edu	37	4	74310810	74310810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74310810G>T	ENST00000395792.2	+	7	914	c.814G>T	c.(814-816)Gga>Tga	p.G272*	AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein			22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		CTGTTGCAGAGGAGATGTGCT	0.393000									Alpha-Fetoprotein, Hereditary Persistence of															0							SO:0001587	stop_gained	Familial Cancer Database	HPAFP	ENST00000395792.2	0	1	hg19	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474626	0.63737	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	.	.	.	5.44	5.44	0.79542	.	0.063410	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	.	.	.	X	272	.	ENSP00000226359:G272X	G	+	1	0	AFP	74529674	1.000000	0.71417	0.323000	0.25347	0.280000	0.26924	5.146000	0.64845	2.832000	0.97577	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3	1	0	1	81	391	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	80	380	0	78	2								-2.908200	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFM	173	broad.mit.edu	37	4	74357693	74357693	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74357693C>T	ENST00000226355.3	+	8	1041	c.948C>T	c.(946-948)aaC>aaT	p.N316N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin			32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		GCATAATTAACTCAAACAAAG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000226355.3	1	1	hg19	CCDS3557.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2	1	0	1	104	337	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1	103	333	0	63	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASSF6	166824	broad.mit.edu	37	4	74442353	74442353	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74442353C>A	ENST00000342081.3	-	9	1043	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y|RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y|RASSF6_ENST00000307439.5_Missense_Mutation_p.D273Y	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6			17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		TCTTCTGCATCTTTATCCATG	0.433000																								0							SO:0001583	missense			ENST00000342081.3	1	1	hg19	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643034	0.87859	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.34275	2.19;2.19;1.37;2.19	6.07	6.07	0.98685	Ras-association (2);	0.137026	0.64402	D	0.000005	T	0.65626	0.2709	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.68108	-0.5496	10	0.87932	D	0	-23.6135	18.1378	0.89627	0.0:1.0:0.0:0.0	.	261;239;305	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	Y	273;305;239;261	ENSP00000303877:D273Y;ENSP00000340578:D305Y;ENSP00000379123:D239Y;ENSP00000335582:D261Y	ENSP00000303877:D273Y	D	-	1	0	RASSF6	74661217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.565000	0.53798	2.884000	0.98904	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	1	0	1	154	721	0	146	1	9.999265e-01	25	40	0	146	2		0	0	0	0	0	2	1	1	152	711	0	146	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASSF6	166824	broad.mit.edu	37	4	74447568	74447568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74447568C>A	ENST00000342081.3	-	8	913	c.783G>T	c.(781-783)caG>caT	p.Q261H	RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H|RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H|RASSF6_ENST00000307439.5_Missense_Mutation_p.Q229H	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6			17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		GAGCAAAATCCTGGGGACTAT	0.383000																								0							SO:0001583	missense			ENST00000342081.3	1	1	hg19	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771961	0.31320	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.30714	2.24;2.24;1.52;2.24	5.38	2.71	0.32032	Ras-association (3);	0.521869	0.22492	N	0.059351	T	0.23492	0.0568	L	0.41961	1.31	0.25594	N	0.986662	B;B;B	0.29835	0.11;0.029;0.258	B;B;B	0.31614	0.037;0.032;0.133	T	0.13737	-1.0498	10	0.37606	T	0.19	-8.2678	6.7214	0.23332	0.0:0.7153:0.0:0.2846	.	217;195;261	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	H	229;261;195;217	ENSP00000303877:Q229H;ENSP00000340578:Q261H;ENSP00000379123:Q195H;ENSP00000335582:Q217H	ENSP00000303877:Q229H	Q	-	3	2	RASSF6	74666432	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.290000	0.18975	0.653000	0.30826	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	1	0	1	59	295	0	58	1	9.998437e-01	22	45	0	58	2		0	0	0	0	0	2	1	1	58	289	0	58	2								-3.170092	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PF4	5196	broad.mit.edu	37	4	74846978	74846978	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74846978G>A	ENST00000296029.3	-	3	419	c.249C>T	c.(247-249)tgC>tgT	p.C83C		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4			2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)	Drotrecogin alfa(DB00055)	GCAGGTCCAAGCAAATTTTCC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000296029.3	1	1	hg19	CCDS3562.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1	1	0	1	67	313	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	64	309	0	66	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTHFD2L	441024	broad.mit.edu	37	4	75147231	75147231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75147231G>A	ENST00000395759.2	+	7	922	c.895G>A	c.(895-897)Gga>Aga	p.G299R	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G241R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like			8			all cancers(17;0.0101)|Lung(101;0.196)		TCCAGTGACAGGAAAGACAAA	0.348000																								0							SO:0001583	missense			ENST00000395759.2	1	1	hg19	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290676	0.80914	.	.	ENSG00000163738	ENST00000395759;ENST00000359107;ENST00000325278	T;T;T	0.57752	0.38;0.38;0.38	5.78	4.94	0.65067	.	0.096735	0.64402	N	0.000001	T	0.68035	0.2957	M	0.88450	2.955	0.80722	D	1	P	0.49358	0.923	P	0.53549	0.729	T	0.69756	-0.5059	10	0.21540	T	0.41	-30.5517	12.6067	0.56527	0.0805:0.0:0.9195:0.0	.	299	Q9H903	MTD2L_HUMAN	R	299;241;241	ENSP00000379108:G299R;ENSP00000352012:G241R;ENSP00000321984:G241R	ENSP00000321984:G241R	G	+	1	0	MTHFD2L	75366095	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	6.102000	0.71486	1.459000	0.47892	0.580000	0.79431	GGA		TCGA-IB-7651-01A-11D-2154-08	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	79	256	0	63	1	7.205956e-01	2	8	0	63	2		0	0	0	0	0	2	1	1	78	247	0	62	2								-4.189792	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARM1	25849	broad.mit.edu	37	4	75959104	75959104	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75959104G>A	ENST00000307428.7	+	3	993	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1			8					CAGCATCGCCGCCATTACCGT	0.502000																								0							SO:0001583	missense			ENST00000307428.7	0	1	hg19	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755231	0.89843	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.24908	1.83;1.83	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000034	T	0.40398	0.1115	L	0.29908	0.895	0.44500	D	0.997441	D	0.89917	1.0	D	0.97110	1.0	T	0.19321	-1.0309	10	0.87932	D	0	-32.4485	15.4761	0.75481	0.0:0.0:1.0:0.0	.	261	Q6UWI2	PARM1_HUMAN	T	19;261	ENSP00000424276:A19T;ENSP00000370224:A261T	ENSP00000370224:A261T	A	+	1	0	PARM1	76178128	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.204000	0.65180	2.713000	0.92767	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	1	0	1	8	47	0	11	1	9.994629e-01	4	93	0	11	2		0	0	0	0	0	2	1	9.905174e-01	8	46	0	11	2								-15.200310	1	1	120884	2	24	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.988187	0.990000	1	9.900000e-01	1
PARM1	25849	broad.mit.edu	37	4	75971390	75971390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75971390G>A	ENST00000307428.7	+	4	1078	c.866G>A	c.(865-867)aGa>aAa	p.R289K	PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1			8					TCCTATGGAAGACTTTTGGAC	0.493000																								0							SO:0001583	missense			ENST00000307428.7	1	1	hg19	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581020	0.86748	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.21543	2.0;2.0	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000011	T	0.35364	0.0929	L	0.27053	0.805	0.37882	D	0.930413	D	0.89917	1.0	D	0.83275	0.996	T	0.19614	-1.0300	10	0.87932	D	0	-16.8324	16.9624	0.86275	0.0:0.0:1.0:0.0	.	289	Q6UWI2	PARM1_HUMAN	K	47;289	ENSP00000424276:R47K;ENSP00000370224:R289K	ENSP00000370224:R289K	R	+	2	0	PARM1	76190414	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.093000	0.71422	2.873000	0.98535	0.561000	0.74099	AGA		TCGA-IB-7651-01A-11D-2154-08	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	1	0	0	25	128	0	37	1	9.997947e-01	6	67	0	37	2		0	0	0	0	0	2	1	9.999998e-01	24	120	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
CDKL2	8999	broad.mit.edu	37	4	76523300	76523300	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76523300A>G	ENST00000429927.2	-	8	1684	c.981T>C	c.(979-981)gaT>gaC	p.D327D	CDKL2_ENST00000307465.4_Silent_p.D327D	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)			22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		CTAAGGAATCATCTTTTTCTT	0.274000																								0							SO:0001819	synonymous_variant			ENST00000429927.2	1	1	hg19	CCDS3570.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	1	0	1	37	191	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1	38	191	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
G3BP2	9908	broad.mit.edu	37	4	76582860	76582860	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76582860G>A	ENST00000359707.4	-	4	1017	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	p.R78C(2)		27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		TCCACATGACGAATTTTAGTA	0.393000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000359707.4	1	1	hg19	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001953	0.54254	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745;ENST00000509100;ENST00000511146;ENST00000515457;ENST00000507252;ENST00000511868	T;T;T	0.78595	-1.18;-1.18;-1.19	5.87	5.87	0.94306	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.67953	2.075	0.80722	D	1	D;B	0.69078	0.997;0.149	P;B	0.45406	0.479;0.035	T	0.82991	-0.0182	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	78;78	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	78	ENSP00000379069:R78C;ENSP00000352738:R78C;ENSP00000350518:R78C	ENSP00000350518:R78C	R	-	1	0	G3BP2	76801884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.941000	0.99782	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	1	0	1	134	569	0	141	1	1	93	234	0	141	2		0	0	0	0	0	2	1	1	133	555	0	141	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USO1	8615	broad.mit.edu	37	4	76692258	76692258	+	Missense_Mutation	SNP	C	C	G	rs146437956	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76692258C>G	ENST00000538159.1	+	7	529	c.529C>G	c.(529-531)Cta>Gta	p.L177V	USO1_ENST00000514213.2_Missense_Mutation_p.L160V			O60763	USO1_HUMAN	USO1 vesicle transport factor			24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		GATGGACTTACTAGCGGATTC	0.308000																								0							SO:0001583	missense			ENST00000538159.1	1	1	hg19		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.07	3.295594	0.60086	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.63580	-0.05;-0.05	5.44	-6.59	0.01830	Armadillo-type fold (2);	0.155107	0.42172	D	0.000748	T	0.80369	0.4610	M	0.92169	3.28	0.37146	D	0.901955	D;P	0.76494	0.999;0.755	D;P	0.66716	0.946;0.662	D	0.85201	0.1015	10	0.87932	D	0	.	19.9368	0.97143	0.0:0.7953:0.0:0.2047	.	177;175	F5GYR8;O60763	.;USO1_HUMAN	V	10;177;160;103	ENSP00000440586:L177V;ENSP00000444850:L160V	ENSP00000264904:L103V	L	+	1	2	USO1	76911282	0.006000	0.16342	0.668000	0.29813	0.983000	0.72400	-0.294000	0.08309	-1.434000	0.01975	-0.302000	0.09304	CTA		TCGA-IB-7651-01A-11D-2154-08	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	24	130	0	32	1	1	82	241	0	32	2		0	0	0	0	0	2	1	9.999998e-01	24	128	0	32	2								-20.000000	1	1	120784	1	41	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999848	0.990000	1	9.900000e-01	1
USO1	8615	broad.mit.edu	37	4	76715005	76715005	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76715005G>A	ENST00000538159.1	+	13	1409	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	USO1_ENST00000514213.2_Missense_Mutation_p.G453D			O60763	USO1_HUMAN	USO1 vesicle transport factor			24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		ACAAGTATTGGCAACCCTCCA	0.423000																								0							SO:0001583	missense			ENST00000538159.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480795|4.480795	0.84747|0.84747	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|T	.|0.72394	.|-0.65	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76821|0.76821	0.4041|0.4041	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.49862	.|0.929;0.815	.|P;P	.|0.51487	.|0.614;0.671	T|T	0.78383|0.78383	-0.2225|-0.2225	5|10	.|0.51188	.|T	.|0.08	.|.	18.5297|18.5297	0.90987|0.90987	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|470;468	.|F5GYR8;O60763	.|.;USO1_HUMAN	T|D	137|303;470;453;396	.|ENSP00000444850:G453D	.|ENSP00000264904:G396D	A|G	+|+	1|2	0|0	USO1|USO1	76934029|76934029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.688000|0.688000	0.40055|0.40055	9.102000|9.102000	0.94226|0.94226	2.373000|2.373000	0.80994|0.80994	0.585000|0.585000	0.79938|0.79938	GCA|GGC		TCGA-IB-7651-01A-11D-2154-08	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	6	259	0	51	1	9.703350e-01	5	273	0	51	2		0	0	0	0	0	2	1	9.611051e-01	6	249	0	51	2								-3.180150	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.290000	0.110000	1.000000	0.260000	0.343530	0.290000	0	1.900000e-01	4.500000e-01
USO1	8615	broad.mit.edu	37	4	76733463	76733463	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76733463C>A	ENST00000538159.1	+	24	2761	c.2761C>A	c.(2761-2763)Ctc>Atc	p.L921I	USO1_ENST00000514213.2_Missense_Mutation_p.L897I			O60763	USO1_HUMAN	USO1 vesicle transport factor			24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		TCTCTTGGTGCTCTTGGCCGA	0.333000																								0							SO:0001583	missense			ENST00000538159.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096368|4.096368	0.76870|0.76870	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|.	.|.	.|.	5.78|5.78	4.07|4.07	0.47477|0.47477	.|Uso1/p115-like vesicle tethering protein, C-terminal (1);Armadillo-type fold (1);	.|0.068870	.|0.64402	.|D	.|0.000013	.|T	.|0.75932	.|0.3917	M|M	0.70595|0.70595	2.14|2.14	0.47407|0.47407	D|D	0.999417|0.999417	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.993;0.998	.|T	.|0.74463	.|-0.3657	.|9	.|0.38643	.|T	.|0.18	.|.	12.5974|12.5974	0.56478|0.56478	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	.|921;912	.|F5GYR8;O60763	.|.;USO1_HUMAN	X|I	587|747;921;897;840	.|.	.|ENSP00000264904:L840I	C|L	+|+	3|1	2|0	USO1|USO1	76952487|76952487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.342000|3.342000	0.52159|0.52159	0.813000|0.813000	0.34350|0.34350	-0.157000|-0.157000	0.13467|0.13467	TGC|CTC		TCGA-IB-7651-01A-11D-2154-08	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	7	46	0	17	1	9.999999e-01	112	335	0	17	2		0	0	0	0	0	2	1	9.819048e-01	7	45	0	17	2								-13.797290	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.977873	0.990000	1	9.900000e-01	1
PPEF2	5470	broad.mit.edu	37	4	76811174	76811174	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76811174C>T	ENST00000286719.7	-	5	709	c.353G>A	c.(352-354)cGc>cAc	p.R118H	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2			50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		GAAGGAGAGGCGTGGCCCCGT	0.532000													NSCLC(105;1359 1603 15961 44567 47947)											0							SO:0001583	missense			ENST00000286719.7	1	1	hg19	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622910	0.14193	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.50001	0.76	4.8	-0.925	0.10458	Serine/threonine phosphatase, PPP5 (1);	0.315459	0.35436	N	0.003216	T	0.28333	0.0700	N	0.21097	0.63	0.34531	D	0.709223	B;B	0.16802	0.001;0.019	B;B	0.14023	0.002;0.01	T	0.14448	-1.0472	10	0.33141	T	0.24	-1.5701	9.52	0.39129	0.0:0.4153:0.0:0.5847	.	118;118	O14830-2;O14830	.;PPE2_HUMAN	H	118	ENSP00000286719:R118H	ENSP00000286719:R118H	R	-	2	0	PPEF2	77030198	0.000000	0.05858	0.993000	0.49108	0.365000	0.29674	-1.516000	0.02250	-0.137000	0.11455	-0.657000	0.03884	CGC		TCGA-IB-7651-01A-11D-2154-08	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	1	0	1	111	624	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1	109	609	0	160	2								-20.000000	1	1	121412	2	39	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDAD1	55153	broad.mit.edu	37	4	76895229	76895229	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76895229C>T	ENST00000356260.5	-	7	754	c.636G>A	c.(634-636)aaG>aaA	p.K212K	SDAD1_ENST00000395711.4_Splice_Site_p.K175K|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1			19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		AGGTGCTCACCTTGGTGACCT	0.428000																								0							SO:0001630	splice_region_variant			ENST00000356260.5	1	0	hg19	CCDS3573.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	1	0	0	76	377	0	75	0	9.999811e-01	0	80	0	75	2		0	0	0	0	0	2	1	1	74	369	0	75	2								-3.241629	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP54	53371	broad.mit.edu	37	4	77036596	77036596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77036596C>T	ENST00000264883.3	-	12	1587	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	NUP54_ENST00000342467.6_Missense_Mutation_p.D267N|NUP54_ENST00000458189.2_Missense_Mutation_p.D303N|NUP54_ENST00000514987.1_Missense_Mutation_p.D435N	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa			19					TCTAGATCGTCTTTAATGATG	0.338000																								0							SO:0001583	missense			ENST00000264883.3	1	1	hg19	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346035	0.95807	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.64997	1.995	0.80722	D	1	D;P;D	0.54207	0.965;0.82;0.965	P;B;P	0.55713	0.782;0.446;0.629	T	0.69803	-0.5046	9	0.37606	T	0.19	-17.7676	20.5792	0.99380	0.0:1.0:0.0:0.0	.	435;267;483	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	N	483;267;435;303	.	ENSP00000264883:D483N	D	-	1	0	NUP54	77255620	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.704000	0.68347	2.873000	0.98535	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3	1	0	1	31	206	0	54	1	1	50	157	0	54	2		0	0	0	0	0	2	1	1	31	204	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999513	0.990000	1	9.900000e-01	1
SORCS2	57537	broad.mit.edu	37	4	7705999	7705999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7705999C>T	ENST00000507866.2	+	14	1965	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2			42					GGGGACGAGACGCTGGTCATG	0.662000																								0							SO:0001583	missense			ENST00000507866.2	0	1	hg19	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124635	0.37533	0.0	4.72E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.30981	1.51;1.51	3.52	2.67	0.31697	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.85197	2.74	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60031	-0.7342	10	0.87932	D	0	.	10.0073	0.41964	0.0:0.8942:0.0:0.1058	.	447;619	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	619;447	ENSP00000422185:T619M;ENSP00000329124:T447M	ENSP00000329124:T447M	T	+	2	0	SORCS2	7756899	1.000000	0.71417	0.997000	0.53966	0.108000	0.19459	6.211000	0.72182	0.799000	0.34018	-0.136000	0.14681	ACG		TCGA-IB-7651-01A-11D-2154-08	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1	12	81	0	19	0	3.479571e-01	0	9	0	19	2		0	0	0	0	0	2	1	9.991797e-01	12	79	0	19	2								-19.822250	1	1	121032	80	44	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.840000	1.000000	1.000000	0.990876	0.990000	1	9.900000e-01	1
SCARB2	950	broad.mit.edu	37	4	77084388	77084388	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77084388G>A	ENST00000264896.2	-	11	1737	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	SCARB2_ENST00000452464.2_Missense_Mutation_p.S320F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2			22			Lung(101;0.196)		CTCATCCATGGATCCCTGTCC	0.458000																								0							SO:0001583	missense			ENST00000264896.2	1	1	hg19	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294914	0.40594	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;D	0.90563	-0.32;-2.69	5.87	5.03	0.67393	.	0.439500	0.26899	N	0.021921	D	0.84786	0.5549	L	0.29908	0.895	0.29519	N	0.853613	B;B	0.18310	0.027;0.005	B;B	0.12156	0.007;0.004	T	0.79492	-0.1781	10	0.51188	T	0.08	.	12.2472	0.54576	0.0795:0.0:0.9205:0.0	.	320;463	E7EM68;Q14108	.;SCRB2_HUMAN	F	463;320	ENSP00000264896:S463F;ENSP00000399154:S320F	ENSP00000264896:S463F	S	-	2	0	SCARB2	77303412	0.976000	0.34144	0.992000	0.48379	0.714000	0.41099	2.816000	0.48026	1.489000	0.48450	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	1	0	0	16	365	0	95	1	1	35	1157	0	95	2		0	0	0	0	0	2	1	9.999236e-01	16	356	0	95	2								-4.367405	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.510000	0.300000	1.000000	0.500000	0.545610	0.510000	0	3.900000e-01	6.700000e-01
CCDC158	339965	broad.mit.edu	37	4	77234349	77234349	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77234349C>A	ENST00000388914.3	-	24	3468	c.3316G>T	c.(3316-3318)Gac>Tac	p.D1106Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	p.D1106N(1)		56					TTTTCCTGGTCTTTTACTTTC	0.338000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000388914.3	0	1	hg19	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627052	0.66901	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.38401	1.14	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000060	T	0.43122	0.1233	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11767	-1.0574	10	0.14252	T	0.57	.	12.5383	0.56154	0.0:0.9215:0.0:0.0785	.	1106	Q5M9N0	CD158_HUMAN	Y	1106;526	ENSP00000373566:D1106Y	ENSP00000316815:D526Y	D	-	1	0	CCDC158	77453373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.425000	0.44723	2.753000	0.94483	0.557000	0.71058	GAC		TCGA-IB-7651-01A-11D-2154-08	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	0	0	0	7	129	0	20	0	3.753519e-03	0	2	0	20	2		0	0	0	0	0	2	1	9.799492e-01	6	127	0	20	2								-10.708470	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.650000	0.290000	1.000000	1.000000	0.670833	0.650000	0	4.400000e-01	9.500000e-01
SORCS2	57537	broad.mit.edu	37	4	7725587	7725587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7725587C>T	ENST00000507866.2	+	19	2697	c.2588C>T	c.(2587-2589)gCg>gTg	p.A863V	SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	p.A713V(1)		42					CACGATGAGGCGGTGCTCTTT	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000507866.2	0	1	hg19	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767768	0.31320	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.68903	-0.36;-0.36	2.82	1.97	0.26223	PKD/Chitinase domain (1);PKD domain (3);	0.261105	0.28883	U	0.013831	T	0.62134	0.2403	M	0.65498	2.005	0.44899	D	0.997912	P;D	0.63880	0.895;0.993	B;B	0.43018	0.198;0.405	T	0.62973	-0.6740	10	0.56958	D	0.05	.	9.4847	0.38922	0.0:0.8919:0.0:0.1081	.	691;863	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	863;691	ENSP00000422185:A863V;ENSP00000329124:A691V	ENSP00000329124:A691V	A	+	2	0	SORCS2	7776487	1.000000	0.71417	0.028000	0.17463	0.002000	0.02628	6.946000	0.75953	0.399000	0.25367	-0.373000	0.07131	GCG		TCGA-IB-7651-01A-11D-2154-08	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	0	0	0	6	278	0	53	0	4.857080e-02	0	14	0	53	2		0	0	0	0	0	2	1	9.642604e-01	6	275	0	53	2								-7.293903	1	0	120906	1	37	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.270000	0.110000	1.000000	0.250000	0.324736	0.270000	0	1.700000e-01	4.200000e-01
CCDC158	339965	broad.mit.edu	37	4	77288498	77288498	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77288498A>G	ENST00000388914.3	-	11	1931	c.1779T>C	c.(1777-1779)gcT>gcC	p.A593A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158			56					TCTCCAGTTGAGCTTTTTCTA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000388914.3	1	1	hg19	CCDS43242.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	1	0	1	91	438	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	89	427	0	87	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC158	339965	broad.mit.edu	37	4	77304873	77304873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77304873C>A	ENST00000388914.3	-	6	897	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CCDC158_ENST00000434846.2_Missense_Mutation_p.A249S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158			56					GATTTCAGTGCTTCAAGTTGA	0.363000																								0							SO:0001583	missense			ENST00000388914.3	1	1	hg19	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	7.400	0.632564	0.14322	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.32515	1.55;1.45	5.78	0.505	0.16953	.	0.527792	0.17548	N	0.170298	T	0.08179	0.0204	N	0.02539	-0.55	0.22424	N	0.999117	B;B	0.20052	0.041;0.001	B;B	0.15484	0.013;0.003	T	0.32348	-0.9910	10	0.07030	T	0.85	.	3.4218	0.07396	0.2284:0.2999:0.0:0.4717	.	249;249	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	S	249	ENSP00000373566:A249S;ENSP00000401742:A249S	ENSP00000316815:A249S	A	-	1	0	CCDC158	77523897	0.999000	0.42202	0.997000	0.53966	0.901000	0.52897	0.400000	0.20932	0.132000	0.18615	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	1	0	1	59	328	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	59	325	0	64	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC158	339965	broad.mit.edu	37	4	77305391	77305391	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305391G>A	ENST00000388914.3	-	5	728	c.576C>T	c.(574-576)atC>atT	p.I192I	CCDC158_ENST00000434846.2_Silent_p.I192I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158			56					AGTCAACTAGGATTGACCGGA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000388914.3	1	1	hg19	CCDS43242.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	1	0	1	102	452	0	117		0	0	0	0	117	2		0	0	0	0	0	2	1	1	101	446	0	116	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SORCS2	57537	broad.mit.edu	37	4	7731317	7731317	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7731317A>G	ENST00000507866.2	+	23	3095	c.2986A>G	c.(2986-2988)Acc>Gcc	p.T996A	SORCS2_ENST00000329016.9_Missense_Mutation_p.T824A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2			42					CCCGCAGGAGACCAGCGTCCC	0.627000																								0							SO:0001583	missense			ENST00000507866.2	0	1	hg19	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197626	0.38806	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.18657	2.2;2.26	4.6	4.6	0.57074	.	0.067623	0.64402	D	0.000019	T	0.26011	0.0634	M	0.69358	2.11	0.50632	D	0.999888	P;P	0.47253	0.892;0.651	B;B	0.41466	0.358;0.266	T	0.09574	-1.0668	10	0.66056	D	0.02	.	13.2364	0.59971	1.0:0.0:0.0:0.0	.	824;996	B5MED8;Q96PQ0	.;SORC2_HUMAN	A	996;824	ENSP00000422185:T996A;ENSP00000329124:T824A	ENSP00000329124:T824A	T	+	1	0	SORCS2	7782217	1.000000	0.71417	0.992000	0.48379	0.129000	0.20672	4.535000	0.60629	1.718000	0.51419	0.514000	0.50259	ACC		TCGA-IB-7651-01A-11D-2154-08	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	0	10	43	0	8	0	4.867078e-01	0	8	0	8	2		0	0	0	0	0	2	1	9.973228e-01	10	41	0	8	2								-3.500096	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998063	0.990000	1	9.900000e-01	1
SHROOM3	57619	broad.mit.edu	37	4	77631357	77631357	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77631357C>T	ENST00000296043.6	+	3	1325	c.372C>T	c.(370-372)ttC>ttT	p.F124F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3			60			Lung(101;0.0903)		CCTCTAACTTCGTCAGCCCAG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000296043.6	1	1	hg19	CCDS3579.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1	82	348	0	79	1	1	45	62	0	79	2		0	0	0	0	0	2	1	1	79	332	0	79	2								-3.192661	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHROOM3	57619	broad.mit.edu	37	4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3			60			Lung(101;0.0903)		TACTTCTGCTCGAGGTGGCCT	0.547000																								0							SO:0001587	stop_gained			ENST00000296043.6	0	1	hg19	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	45	11.398115	0.99556	.	.	ENSG00000138771	ENST00000296043	.	.	.	6.17	6.17	0.99709	.	0.389024	0.24334	N	0.039431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8083	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000296043:R292X	R	+	1	2	SHROOM3	77879224	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.624000	0.46444	2.941000	0.99782	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1	46	178	0	68	1	1	75	60	0	68	2		0	0	0	0	0	2	1	1	44	173	0	67	2								-3.369684	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHROOM3	57619	broad.mit.edu	37	4	77661164	77661164	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661164C>T	ENST00000296043.6	+	5	2791	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3			60			Lung(101;0.0903)		GCCTGGCAAGCGGGTGAAGAC	0.562000																								0							SO:0001583	missense			ENST00000296043.6	1	1	hg19	CCDS3579.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.733713|-1.733713	0.00687|0.00687	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000296043|ENST00000380735	T|.	0.17854|.	2.25|.	5.64|5.64	-3.6|-3.6	0.04570|0.04570	.|.	1.549080|.	0.03546|.	N|.	0.224670|.	T|T	0.12774|0.12774	0.0310|0.0310	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12013|.	0.005;0.005;0.002|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|T	0.31806|0.31806	-0.9930|-0.9930	10|6	0.06625|0.72032	T|D	0.88|0.01	-4.4057|-4.4057	8.8457|8.8457	0.35168|0.35168	0.0:0.4991:0.1238:0.3771|0.0:0.4991:0.1238:0.3771	.|.	437;613;391|.	B4E244;Q8TF72;B3KY47|.	.;SHRM3_HUMAN;.|.	V|W	613|153	ENSP00000296043:A613V|.	ENSP00000296043:A613V|ENSP00000370111:R153W	A|R	+|+	2|1	0|2	SHROOM3|SHROOM3	77880188|77880188	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.204000|0.204000	0.24138|0.24138	0.001000|0.001000	0.13038|0.13038	-0.485000|-0.485000	0.06754|0.06754	0.462000|0.462000	0.41574|0.41574	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1	131	673	0	162	1	1	102	97	0	162	2		0	0	0	0	0	2	1	1	129	667	0	160	2								-20.000000	1	1	121408	2	35	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHROOM3	57619	broad.mit.edu	37	4	77661560	77661560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661560C>T	ENST00000296043.6	+	5	3187	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3			60			Lung(101;0.0903)		CCCGAAGAGCCGCCTGCCCCC	0.697000																								0							SO:0001583	missense			ENST00000296043.6	1	1	hg19	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	1.467	-0.560874	0.03939	.	.	ENSG00000138771	ENST00000296043	T	0.30981	1.51	4.93	1.23	0.21249	.	1.031020	0.07679	N	0.936730	T	0.27900	0.0687	L	0.48362	1.52	0.09310	N	1	B;B;B	0.22211	0.066;0.066;0.066	B;B;B	0.14023	0.006;0.01;0.01	T	0.30327	-0.9982	10	0.23302	T	0.38	-2.7222	12.1817	0.54216	0.0:0.6199:0.0:0.3801	.	569;745;523	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	745	ENSP00000296043:P745L	ENSP00000296043:P745L	P	+	2	0	SHROOM3	77880584	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.382000	0.20635	-0.120000	0.11809	-2.041000	0.00417	CCG		TCGA-IB-7651-01A-11D-2154-08	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1	29	289	0	34	1	9.986793e-01	33	71	0	34	2		0	0	0	0	0	2	1	1	29	284	0	32	2								-20.000000	1	1	121178	3	34	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.740000	1.000000	1.000000	0.965935	0.990000	1	9.000000e-01	1
SHROOM3	57619	broad.mit.edu	37	4	77675851	77675851	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675851C>T	ENST00000296043.6	+	7	5168	c.4215C>T	c.(4213-4215)ggC>ggT	p.G1405G	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3			60			Lung(101;0.0903)		GCTGTGAGGGCGATGGCCCAG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000296043.6	1	1	hg19	CCDS3579.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1	36	173	0	28	1	1	44	168	0	28	2		0	0	0	0	0	2	1	1	35	167	0	27	2								-20.000000	1	0	121412	1	21	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SHROOM3	57619	broad.mit.edu	37	4	77675938	77675938	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675938C>T	ENST00000296043.6	+	7	5255	c.4302C>T	c.(4300-4302)gcC>gcT	p.A1434A	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3			60			Lung(101;0.0903)		CAAAGTGGGCCCACGCAGCCA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000296043.6	1	1	hg19	CCDS3579.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	1	0	1	41	172	0	31	1	1	102	87	0	31	2		0	0	0	0	0	2	1	1	41	172	0	31	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNI	10983	broad.mit.edu	37	4	77976531	77976531	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77976531G>A	ENST00000237654.4	-	6	1038	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CCNI_ENST00000504697.1_5'Flank|CCNI_ENST00000537948.1_Silent_p.F140F	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I			9					CAATGGCATGGAACTGAAAAT	0.333000																								0							SO:0001819	synonymous_variant			ENST00000237654.4	0	1	hg19	CCDS3580.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	0	0	0	10	136	0	29	1	1	105	1013	0	29	2		0	0	0	0	0	2	1	9.968881e-01	10	133	0	29	2								-14.347130	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.840000	0.430000	1.000000	1.000000	0.817608	0.840000	0	6.100000e-01	1
CCNG2	901	broad.mit.edu	37	4	78082647	78082647	+	Missense_Mutation	SNP	G	G	A	rs34067647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78082647G>A	ENST00000316355.5	+	5	898	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2			10					GAAATACTGAGCCTTGATAAA	0.333000																								0							SO:0001583	missense			ENST00000316355.5	1	1	hg19	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789230	0.16258	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.79	1.94	0.25998	.	0.206903	0.64402	N	0.000008	T	0.12305	0.0299	N	0.08118	0	0.35924	D	0.832029	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.25606	-1.0127	10	0.07482	T	0.82	-6.0749	9.1384	0.36888	0.5175:0.0:0.4825:0.0	.	181;181	B4DF25;Q16589	.;CCNG2_HUMAN	N	181	ENSP00000315743:S181N;ENSP00000346379:S181N;ENSP00000424665:S181N;ENSP00000379002:S181N;ENSP00000426476:S181N	ENSP00000315743:S181N	S	+	2	0	CCNG2	78301671	0.987000	0.35691	0.933000	0.37362	0.985000	0.73830	1.740000	0.38228	0.311000	0.23014	-0.345000	0.07892	AGC		TCGA-IB-7651-01A-11D-2154-08	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	1	0	1	52	224	0	39	1	1	58	143	0	39	2		0	0	0	0	0	2	1	1	51	220	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNG2	901	broad.mit.edu	37	4	78086953	78086953	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78086953G>A	ENST00000316355.5	+	8	1267		c.e8-1		CCNG2_ENST00000395640.1_Splice_Site|CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000354403.5_Intron	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2			10					TTTCTCTTTAGTGAGGACTCT	0.378000																								0							SO:0001630	splice_region_variant			ENST00000316355.5	1	1	hg19	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794848	0.50102	.	.	ENSG00000138764	ENST00000316355;ENST00000502280;ENST00000395640	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8598	0.86014	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNG2	78305977	1.000000	0.71417	0.989000	0.46669	0.687000	0.40016	9.334000	0.96470	2.407000	0.81776	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	1	0	1	42	205	0	49	1	9.915332e-01	24	15	0	49	2		0	0	0	0	0	2	1	1	41	205	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT6L	246175	broad.mit.edu	37	4	78650044	78650044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650044C>T	ENST00000504123.1	-	10	1346	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like			9					GCACATAGCACCAGCGGGATG	0.428000																								0							SO:0001583	missense			ENST00000504123.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.368717|4.368717	0.82463|0.82463	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|D;D;D;D	.|0.96073	.|-3.9;-3.9;-3.9;-3.9	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97642|0.97642	0.9227|0.9227	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	.|D;P	.|0.65815	.|0.995;0.884	.|D;P	.|0.69654	.|0.965;0.696	D|D	0.98104|0.98104	1.0416|1.0416	5|10	.|0.87932	.|D	.|0	-3.4006|-3.4006	19.5255|19.5255	0.95203|0.95203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379;406	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	D|M	434|406;406;413;181	.|ENSP00000424896:V406M;ENSP00000264903:V406M;ENSP00000425571:V413M;ENSP00000426320:V181M	.|ENSP00000264903:V406M	G|V	-|-	2|1	0|0	CNOT6L|CNOT6L	78869068|78869068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.999000|5.999000	0.70665|0.70665	2.627000|2.627000	0.88993|0.88993	0.563000|0.563000	0.77884|0.77884	GGT|GTG		TCGA-IB-7651-01A-11D-2154-08	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1	1	0	1	88	520	0	114	1	9.959724e-01	8	43	0	114	2		0	0	0	0	0	2	1	1	87	505	0	115	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT6L	246175	broad.mit.edu	37	4	78650176	78650176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650176G>A	ENST00000504123.1	-	10	1214	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like			9					GGGTCCCAATGCATGTGGGCA	0.408000																								0							SO:0001583	missense			ENST00000504123.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.042181|4.042181	0.75732|0.75732	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87297|0.87297	0.6142|0.6142	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.565	.|D;P	.|0.87578	.|0.998;0.77	D|D	0.85435|0.85435	0.1151|0.1151	5|10	.|0.39692	.|T	.|0.17	-4.3727|-4.3727	19.8926|19.8926	0.96935|0.96935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|335;362	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	V|Y	390|362;362;369;137	.|ENSP00000424896:H362Y;ENSP00000264903:H362Y;ENSP00000425571:H369Y;ENSP00000426320:H137Y	.|ENSP00000264903:H362Y	A|H	-|-	2|1	0|0	CNOT6L|CNOT6L	78869200|78869200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.709000|2.709000	0.92574|0.92574	0.563000|0.563000	0.77884|0.77884	GCA|CAT		TCGA-IB-7651-01A-11D-2154-08	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1	0	0	1	93	453	0	123	1	9.993965e-01	21	34	0	123	2		0	0	0	0	0	2	1	1	90	435	0	135	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT6L	246175	broad.mit.edu	37	4	78650217	78650217	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650217G>A	ENST00000504123.1	-	10	1173	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like			9					TTTGTCTGCAGCATGAATAGG	0.393000																								0							SO:0001583	missense			ENST00000504123.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545002	0.45280	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.43688	1.53;1.53;1.68;0.94	5.63	5.63	0.86233	Endonuclease/exonuclease/phosphatase (2);	0.297866	0.37304	N	0.002160	T	0.22742	0.0549	N	0.03154	-0.405	0.40114	D	0.976523	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.14476	-1.0471	10	0.11485	T	0.65	-3.1273	18.444	0.90677	0.0:0.0:1.0:0.0	.	321;348	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	V	348;348;355;123	ENSP00000424896:A348V;ENSP00000264903:A348V;ENSP00000425571:A355V;ENSP00000426320:A123V	ENSP00000264903:A348V	A	-	2	0	CNOT6L	78869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.736000	0.55052	2.653000	0.90120	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1	1	0	1	88	354	0	98	1	9.999489e-01	13	47	0	98	2		0	0	0	0	0	2	1	1	86	334	0	104	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT6L	246175	broad.mit.edu	37	4	78695823	78695823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78695823T>G	ENST00000504123.1	-	3	305	c.175A>C	c.(175-177)Aca>Cca	p.T59P	CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like			9					TGCAGCGCTGTCAAGTGTGTC	0.428000																								0							SO:0001583	missense			ENST00000504123.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.459601|4.459601	0.84317|0.84317	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	.|T;T;T;T	.|0.59224	.|0.28;0.28;0.28;0.28	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72252|0.72252	0.3437|0.3437	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.75761|0.75761	-0.3204|-0.3204	5|10	.|0.72032	.|D	.|0.01	-14.9073|-14.9073	13.7427|13.7427	0.62857|0.62857	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|59;59	.|B4E2S0;Q96LI5	.|.;CNO6L_HUMAN	A|P	87|59;59;66;59	.|ENSP00000424896:T59P;ENSP00000264903:T59P;ENSP00000425571:T66P;ENSP00000426269:T59P	.|ENSP00000264903:T59P	D|T	-|-	2|1	0|0	CNOT6L|CNOT6L	78914847|78914847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.946000|7.946000	0.87746|0.87746	1.685000|1.685000	0.51034|0.51034	0.459000|0.459000	0.35465|0.35465	GAC|ACA		TCGA-IB-7651-01A-11D-2154-08	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1	1	0	1	28	152	0	18	1	9.995120e-01	14	54	0	18	2		0	0	0	0	0	2	1	1	27	151	0	18	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999937	0.990000	1	9.900000e-01	1
MRPL1	65008	broad.mit.edu	37	4	78808417	78808417	+	Missense_Mutation	SNP	T	T	C	rs17855456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78808417T>C	ENST00000315567.8	+	5	859	c.530T>C	c.(529-531)tTt>tCt	p.F177S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1			17					GGAGCTGCATTTGCAGGAGGC	0.328000																								0							SO:0001583	missense			ENST00000315567.8	1	1	hg19	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123426	0.77436	.	.	ENSG00000169288	ENST00000315567;ENST00000538314	T	0.44881	0.91	5.96	3.51	0.40186	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.356101	0.33670	N	0.004665	T	0.48624	0.1510	M	0.74881	2.28	0.36811	D	0.885884	P;P	0.46457	0.673;0.878	B;P	0.49683	0.393;0.619	T	0.54957	-0.8215	10	0.59425	D	0.04	-11.0467	6.1015	0.20049	0.1439:0.0769:0.0:0.7792	rs17855456;rs17855456	155;177	A0PJ79;Q9BYD6	.;RM01_HUMAN	S	177;155	ENSP00000315017:F177S	ENSP00000315017:F177S	F	+	2	0	MRPL1	79027441	1.000000	0.71417	0.875000	0.34327	0.978000	0.69477	4.046000	0.57376	0.498000	0.27948	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	1	0	1	62	295	0	50	1	1	54	96	0	50	2		0	0	0	0	0	2	1	1	59	285	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRAS1	80144	broad.mit.edu	37	4	79367898	79367898	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79367898T>C	ENST00000264895.6	+	43	6314	c.5874T>C	c.(5872-5874)ccT>ccC	p.P1958P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1			103					ACGATGAGCCTCCCAGGATGA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000264895.6	1	1	hg19	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	1.378	-0.584137	0.03827	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.78	-1.45	0.08828	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	.	0.682	0.00876	0.3835:0.2441:0.1189:0.2534	.	.	.	.	P	187	.	.	S	+	1	0	FRAS1	79586922	0.999000	0.42202	0.991000	0.47740	0.106000	0.19336	0.367000	0.20382	-0.432000	0.07297	-1.140000	0.01884	TCC		TCGA-IB-7651-01A-11D-2154-08	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	7	135	0	36	0	1.885321e-02	0	4	0	36	2		0	0	0	0	0	2	1	9.794453e-01	7	131	0	35	2								-4.247716	1	1	120860	1	27	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.620000	0.270000	1.000000	1.000000	0.648641	0.620000	0	4.200000e-01	9.100000e-01
FRAS1	80144	broad.mit.edu	37	4	79403572	79403572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79403572C>T	ENST00000264895.6	+	58	9075	c.8635C>T	c.(8635-8637)Cag>Tag	p.Q2879*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1			103					GGATGACACTCAGTATCCGGT	0.458000																								0							SO:0001587	stop_gained			ENST00000264895.6	0	1	hg19	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.690586|9.690586	0.99240|0.99240	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.059791|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76990	.|0.4065	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74124	.|-0.3766	.|4	0.40728|.	T|.	0.16|.	.|.	20.3088|20.3088	0.98641|0.98641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2879|1107	.|.	ENSP00000264895:Q2879X|.	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79622596|79622596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.529000|7.529000	0.81952|0.81952	2.805000|2.805000	0.96524|0.96524	0.579000|0.579000	0.79373|0.79373	CAG|TCA		TCGA-IB-7651-01A-11D-2154-08	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	192	808	0	220	0	1.698795e-01	0	4	0	220	2		0	0	0	0	0	2	1	1	189	799	0	217	2								-3.360418	1	1	120842	1	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRAS1	80144	broad.mit.edu	37	4	79421054	79421054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79421054C>T	ENST00000264895.6	+	61	9735	c.9295C>T	c.(9295-9297)Cga>Tga	p.R3099*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1			103					CCCAAAGAGCCGAGTCTTGAA	0.483000																								0							SO:0001587	stop_gained			ENST00000264895.6	0	1	hg19	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.057578|9.057578	0.99051|0.99051	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|.	.|.	.|.	5.91|5.91	3.13|3.13	0.36017|0.36017	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.41650|.	0.1168|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21586|.	-1.0241|.	4|.	.|0.02654	.|T	.|1	.|.	14.9947|14.9947	0.71421|0.71421	0.3824:0.6176:0.0:0.0|0.3824:0.6176:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1327|3099	.|.	.|ENSP00000264895:R3099X	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79640078|79640078	0.982000|0.982000	0.34865|0.34865	0.998000|0.998000	0.56505|0.56505	0.505000|0.505000	0.33919|0.33919	1.505000|1.505000	0.35736|0.35736	0.331000|0.331000	0.23511|0.23511	0.655000|0.655000	0.94253|0.94253	CCG|CGA		TCGA-IB-7651-01A-11D-2154-08	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1	101	373	0	135	0	2.925186e-01	0	5	0	135	2		0	0	0	0	0	2	1	1	97	372	0	135	2								-3.486758	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRAS1	80144	broad.mit.edu	37	4	79428591	79428591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79428591T>G	ENST00000264895.6	+	62	9773	c.9333T>G	c.(9331-9333)ttT>ttG	p.F3111L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1			103					ATCATATCTTTTTTAAAGTTG	0.473000																								0							SO:0001583	missense			ENST00000264895.6	1	1	hg19	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.037|9.037	0.988810|0.988810	0.18966|0.18966	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|T	0.28454|0.28895	1.61|1.59	5.25|5.25	-3.37|-3.37	0.04898|0.04898	.|.	0.645296|0.645296	0.14834|0.14834	N|N	0.295696|0.295696	T|T	0.13884|0.13884	0.0336|0.0336	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.22906|0.22906	-1.0203|-1.0203	10|8	0.08837|0.08837	T|T	0.75|0.75	.|.	5.8971|5.8971	0.18945|0.18945	0.1005:0.5096:0.1866:0.2032|0.1005:0.5096:0.1866:0.2032	.|.	3110;3111|.	Q86XX4-2;E9PHH6|.	.;.|.	L|V	3111|1340	ENSP00000264895:F3111L|ENSP00000422834:F1340V	ENSP00000264895:F3111L|ENSP00000422834:F1340V	F|F	+|+	3|1	2|0	FRAS1|FRAS1	79647615|79647615	0.005000|0.005000	0.15991|0.15991	0.964000|0.964000	0.40570|0.40570	0.939000|0.939000	0.58152|0.58152	-1.613000|-1.613000	0.02059|0.02059	-0.507000|-0.507000	0.06549|0.06549	-0.353000|-0.353000	0.07706|0.07706	TTT|TTT		TCGA-IB-7651-01A-11D-2154-08	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	23	124	0	23	0	2.487329e-01	1	5	0	23	2		0	0	0	0	0	2	1	9.999994e-01	19	121	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999818	0.990000	1	9.900000e-01	1
FRAS1	80144	broad.mit.edu	37	4	79461814	79461814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79461814G>A	ENST00000264895.6	+	74	12015	c.11575G>A	c.(11575-11577)Gat>Aat	p.D3859N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1			103					GGTAGAGCCCGATGGCCAGCT	0.537000																								0							SO:0001583	missense			ENST00000264895.6	1	1	hg19	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.470|5.470	0.271699|0.271699	0.10349|0.10349	0.0|0.0	1.2E-4|1.2E-4	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.40756|.	1.02|.	5.55|5.55	4.31|4.31	0.51392|0.51392	.|.	0.453509|.	0.24245|.	N|.	0.040236|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.39692|.	T|.	0.17|.	.|.	5.7709|5.7709	0.18253|0.18253	0.725:0.0:0.1481:0.1269|0.725:0.0:0.1481:0.1269	.|.	3859|.	E9PHH6|.	.|.	N|Q	3859|2087	ENSP00000264895:D3859N|.	ENSP00000264895:D3859N|.	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79680838|79680838	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.003000|0.003000	0.03518|0.03518	1.166000|1.166000	0.31834|0.31834	1.120000|1.120000	0.41904|0.41904	-0.352000|-0.352000	0.07741|0.07741	GAT|CGA		TCGA-IB-7651-01A-11D-2154-08	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1	36	130	1	34	1	7.061867e-01	6	10	1	34	3		0	0	0	0	0	2	1	9.991445e-01	36	128	1	34	16								-20.000000	1	1	120948	2	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP2K	55589	broad.mit.edu	37	4	79832926	79832926	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79832926T>A	ENST00000335016.5	+	16	3391	c.3225T>A	c.(3223-3225)caT>caA	p.H1075Q	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase			13					AGCCCTTCCATTCTCCAGACC	0.537000																								0							SO:0001583	missense			ENST00000335016.5	1	1	hg19	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.759|8.759	0.923117|0.923117	0.18056|0.18056	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000335016	.|T	.|0.47869	.|0.83	5.41|5.41	1.7|1.7	0.24286|0.24286	.|.	.|0.202762	.|0.40469	.|N	.|0.001092	T|T	0.54078|0.54078	0.1836|0.1836	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.55161	.|0.77	T|T	0.53655|0.53655	-0.8408|-0.8408	5|10	.|0.66056	.|D	.|0.02	-14.2633|-14.2633	7.5944|7.5944	0.28039|0.28039	0.0:0.3899:0.0:0.6101|0.0:0.3899:0.0:0.6101	.|.	.|1075	.|Q9NSY1	.|BMP2K_HUMAN	I|Q	768|1075	.|ENSP00000334836:H1075Q	.|ENSP00000334836:H1075Q	F|H	+|+	1|3	0|2	BMP2K|BMP2K	80051950|80051950	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.008000|0.008000	0.06430|0.06430	1.194000|1.194000	0.32174|0.32174	0.357000|0.357000	0.24183|0.24183	0.397000|0.397000	0.26171|0.26171	TTC|CAT		TCGA-IB-7651-01A-11D-2154-08	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	104	377	0	117	1	9.999840e-01	7	53	0	117	2		0	0	0	0	0	2	1	1	100	370	0	115	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GK2	2712	broad.mit.edu	37	4	80328787	80328787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328787C>T	ENST00000358842.3	-	1	585	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2			39					CCTCCATTAACTCCTCCTGTC	0.398000																								0							SO:0001583	missense			ENST00000358842.3	1	1	hg19	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	0.675	-0.800609	0.02841	.	.	ENSG00000196475	ENST00000358842	T	0.57907	0.37	3.76	2.92	0.33932	Carbohydrate kinase, FGGY, N-terminal (1);	0.464515	0.22498	N	0.059269	T	0.36358	0.0964	L	0.38649	1.16	0.09310	N	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.12682	-1.0538	10	0.24483	T	0.36	-16.8897	5.7773	0.18287	0.0:0.766:0.0:0.2339	.	190	Q14410	GLPK2_HUMAN	I	190	ENSP00000351706:V190I	ENSP00000351706:V190I	V	-	1	0	GK2	80547811	0.081000	0.21417	0.539000	0.28077	0.083000	0.17756	1.572000	0.36461	1.185000	0.42971	0.585000	0.79938	GTT		TCGA-IB-7651-01A-11D-2154-08	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	1	0	1	80	423	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	78	417	0	118	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GK2	2712	broad.mit.edu	37	4	80329323	80329323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80329323G>A	ENST00000358842.3	-	1	49	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2			39					TCCCACCAACGGCCCCACAGC	0.572000																								0							SO:0001583	missense			ENST00000358842.3	1	1	hg19	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645546	0.29246	.	.	ENSG00000196475	ENST00000358842	T	0.14640	2.49	3.74	2.89	0.33648	.	0.183018	0.48286	D	0.000186	T	0.19046	0.0457	L	0.56280	1.765	0.80722	D	1	D	0.58970	0.984	P	0.50109	0.631	T	0.01440	-1.1354	10	0.66056	D	0.02	-6.7856	9.5498	0.39304	0.1063:0.0:0.8937:0.0	.	11	Q14410	GLPK2_HUMAN	L	11	ENSP00000351706:P11L	ENSP00000351706:P11L	P	-	2	0	GK2	80548347	1.000000	0.71417	0.904000	0.35570	0.600000	0.36913	5.242000	0.65389	1.160000	0.42584	0.460000	0.39030	CCG		TCGA-IB-7651-01A-11D-2154-08	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	1	0	0	30	191	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	29	188	0	36	2								-20.000000	1	1	121410	1	27	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999676	0.990000	1	9.900000e-01	1
ABLIM2	84448	broad.mit.edu	37	4	8062713	8062713	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8062713G>A	ENST00000341937.5	-	7	808	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G|ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000318888.4_Silent_p.G5G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000296372.8_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2			25					ACATCTCTTCGCCTTCTGCAA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000341937.5	0	1	hg19	CCDS47013.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	1	0	1	7	40	0	9	1	9.771576e-01	16	27	0	9	2		0	0	0	0	0	2	1	9.834786e-01	7	40	0	9	2								-14.041770	1	1	120794	1	17	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.770000	1.000000	1.000000	0.985749	0.990000	1	9.900000e-01	1
ABLIM2	84448	broad.mit.edu	37	4	8089918	8089918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8089918C>T	ENST00000341937.5	-	4	496	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000296372.8_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2			25					GGGACAGGTGCGCGCTGCTGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000341937.5	1	1	hg19	CCDS47013.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	0	0	1	19	121	0	31	1	9.735867e-01	17	24	0	31	2		0	0	0	0	0	2	1	9.999928e-01	19	118	0	30	2								-4.755378	1	1	120948	30	43	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998141	0.990000	1	9.900000e-01	1
ABLIM2	84448	broad.mit.edu	37	4	8108314	8108314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8108314C>T	ENST00000341937.5	-	2	125	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000296372.8_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2			25					CACAGGATCGCCGTGCTGGGC	0.592000																								0							SO:0001583	missense			ENST00000341937.5	1	1	hg19	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768134	0.31320	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.32753	1.59;1.85;1.78;1.59;1.77;1.85;1.78;1.53;1.6;1.44	4.15	3.3	0.37823	.	0.171361	0.40385	N	0.001104	T	0.39759	0.1090	L	0.47716	1.5	0.80722	D	1	P;P;P;P;D;B;D;B	0.63880	0.722;0.716;0.655;0.581;0.993;0.278;0.965;0.446	B;B;B;B;P;B;P;B	0.58172	0.08;0.407;0.165;0.287;0.834;0.15;0.637;0.15	T	0.09228	-1.0684	10	0.27082	T	0.32	.	12.5547	0.56246	0.1678:0.8322:0.0:0.0	.	26;21;21;21;21;21;21;21	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	T	21	ENSP00000354887:A21T;ENSP00000296372:A21T;ENSP00000441255:A21T;ENSP00000444365:A21T;ENSP00000393511:A21T;ENSP00000342813:A21T;ENSP00000355003:A21T;ENSP00000384658:A21T;ENSP00000421283:A21T;ENSP00000389410:A21T	ENSP00000296372:A21T	A	-	1	0	ABLIM2	8159214	0.014000	0.17966	0.957000	0.39632	0.118000	0.20060	1.027000	0.30115	1.079000	0.41038	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	1	0	1	20	76	0	18	1	9.507014e-01	10	12	0	18	2		0	0	0	0	0	2	1	9.999977e-01	20	75	0	17	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
PRDM8	56978	broad.mit.edu	37	4	81123374	81123374	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81123374G>T	ENST00000504452.1	+	8	1597	c.758G>T	c.(757-759)aGc>aTc	p.S253I	PRDM8_ENST00000339711.4_Missense_Mutation_p.S253I|PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8			10					GCCGGCGGCAGCAGCGCGAAG	0.672000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000504452.1	1	1	hg19	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464675	0.12402	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65178	-0.14;0.43;-0.14;-0.14	4.52	0.658	0.17855	.	0.584987	0.17590	U	0.168790	T	0.37679	0.1012	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.14023	0.01	T	0.19516	-1.0303	10	0.56958	D	0.05	.	4.8306	0.13437	0.1974:0.3288:0.4738:0.0	.	253	Q9NQV8	PRDM8_HUMAN	I	253	ENSP00000423985:S253I;ENSP00000425149:S253I;ENSP00000339764:S253I;ENSP00000406998:S253I	ENSP00000339764:S253I	S	+	2	0	PRDM8	81342398	0.124000	0.22315	0.000000	0.03702	0.187000	0.23431	0.082000	0.14847	-0.089000	0.12484	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1	1	0	0	52	306	0	71	1	5.865874e-01	3	10	0	71	2		0	0	0	0	0	2	1	1	49	292	0	69	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
C4orf22	255119	broad.mit.edu	37	4	81504321	81504321	+	Missense_Mutation	SNP	G	G	A	rs150179610	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81504321G>A	ENST00000358105.3	+	3	366	c.317G>A	c.(316-318)cGc>cAc	p.R106H	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22			15					GAAGACAATCGCAGTGGAAAA	0.343000																								0							SO:0001583	missense			ENST00000358105.3	1	1	hg19	CCDS3587.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.08	3.021501	0.54576	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.33654	1.4;1.4	5.55	3.77	0.43336	.	0.207143	0.40222	N	0.001144	T	0.63757	0.2538	M	0.91818	3.245	0.37468	D	0.915485	D;D	0.89917	1.0;1.0	D;D	0.75484	0.981;0.986	T	0.71104	-0.4689	10	0.62326	D	0.03	.	9.1071	0.36705	0.077:0.0:0.7644:0.1587	.	106;106	E7EQ13;Q6V702	.;CD022_HUMAN	H	106	ENSP00000350818:R106H;ENSP00000425786:R106H	ENSP00000350818:R106H	R	+	2	0	C4orf22	81723345	1.000000	0.71417	0.627000	0.29227	0.259000	0.26198	3.675000	0.54605	0.837000	0.34925	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	1	0	1	52	251	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1	52	246	0	63	2								-3.372185	1	1	121408	2	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Missense_Mutation	SNP	C	C	A	rs147415195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967122C>A	ENST00000282701.2	+	2	867	c.547C>A	c.(547-549)Ctg>Atg	p.L183M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3			29					CCTTGGCCATCTGTCAGTGGA	0.438000																								0							SO:0001583	missense			ENST00000282701.2	1	1	hg19	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458660	0.26248	.	.	ENSG00000152785	ENST00000282701	T	0.64438	-0.1	4.84	2.98	0.34508	Transforming growth factor-beta, N-terminal (1);	0.162830	0.56097	D	0.000038	T	0.65270	0.2675	M	0.70275	2.135	0.28301	N	0.923107	D	0.60575	0.988	P	0.55923	0.787	T	0.59473	-0.7448	10	0.40728	T	0.16	.	2.6952	0.05133	0.2072:0.4839:0.0:0.3089	.	183	P12645	BMP3_HUMAN	M	183	ENSP00000282701:L183M	ENSP00000282701:L183M	L	+	1	2	BMP3	82186146	1.000000	0.71417	0.986000	0.45419	0.026000	0.11368	3.579000	0.53900	1.412000	0.46977	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1	1	0	1	138	741	0	165		0	0	0	0	165	2		0	0	0	0	0	2	1	1	137	730	0	164	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP3	651	broad.mit.edu	37	4	81967161	81967161	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967161T>A	ENST00000282701.2	+	2	906	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3			29					AGATATTATGTCCTGGCTGTC	0.443000																								0							SO:0001583	missense			ENST00000282701.2	1	1	hg19	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.663966	0.03428	.	.	ENSG00000152785	ENST00000282701	T	0.65916	-0.18	5.08	-2.37	0.06643	Transforming growth factor-beta, N-terminal (1);	0.315470	0.40064	N	0.001194	T	0.45657	0.1353	M	0.66939	2.045	0.27087	N	0.962947	B	0.11235	0.004	B	0.12156	0.007	T	0.20438	-1.0275	10	0.13470	T	0.59	.	1.5263	0.02526	0.1518:0.1349:0.2093:0.504	.	196	P12645	BMP3_HUMAN	T	196	ENSP00000282701:S196T	ENSP00000282701:S196T	S	+	1	0	BMP3	82186185	0.197000	0.23362	0.056000	0.19401	0.024000	0.10985	0.753000	0.26376	-0.129000	0.11620	-0.313000	0.08912	TCC		TCGA-IB-7651-01A-11D-2154-08	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1	1	0	1	152	736	0	169		0	0	0	0	169	2		0	0	0	0	0	2	1	1	151	722	0	168	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP3	651	broad.mit.edu	37	4	81974600	81974600	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81974600C>A	ENST00000282701.2	+	3	1649	c.1329C>A	c.(1327-1329)tcC>tcA	p.S443S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3			29					AAAAGATGTCCTCACTCAGTA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000282701.2	0	1	hg19	CCDS3588.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1	0	0	0	17	737	0	130	0	0	0	1	0	130	2		0	0	0	0	0	2	1	9.999601e-01	15	728	0	130	2								-2.229127	0	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.270000	0.160000	1.000000	0.270000	0.320159	0.270000	0	2.100000e-01	3.600000e-01
PRKG2	5593	broad.mit.edu	37	4	82065465	82065465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:82065465C>T	ENST00000395578.1	-	10	1290	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S|PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S|PRKG2_ENST00000545647.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	p.G392C(2)		37					TCAAATGTACCGACAGTTTGG	0.378000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000395578.1	1	1	hg19	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711059	0.68730	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.92495	-3.05;-3.05;-3.05	5.31	5.31	0.75309	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.67900	0.924;0.954	D	0.94558	0.7760	10	0.44086	T	0.13	-25.4218	18.9359	0.92584	0.0:1.0:0.0:0.0	.	392;392	E7EPE6;Q13237	.;KGP2_HUMAN	S	392	ENSP00000378945:G392S;ENSP00000264399:G392S;ENSP00000389038:G392S	ENSP00000264399:G392S	G	-	1	0	PRKG2	82284489	1.000000	0.71417	0.962000	0.40283	0.516000	0.34256	7.010000	0.76353	2.640000	0.89533	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	1	0	0	21	446	0	96	0	6.652602e-03	0	3	0	96	2		0	0	0	0	0	2	1	9.999971e-01	20	438	0	96	2								-2.224045	0	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.540000	0.340000	1.000000	0.520000	0.574643	0.540000	0	4.300000e-01	6.900000e-01
SH3TC1	54436	broad.mit.edu	37	4	8221133	8221133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8221133G>A	ENST00000245105.3	+	9	1055	c.988G>A	c.(988-990)Gac>Aac	p.D330N	SH3TC1_ENST00000539824.1_Missense_Mutation_p.D254N	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1			33					CCGAGGTGGCGACCTCATCGA	0.677000													NSCLC(145;2298 2623 35616 37297)											0							SO:0001583	missense			ENST00000245105.3	1	1	hg19	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710603	0.68730	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.27104	1.69;1.69;1.69	4.21	4.21	0.49690	Src homology-3 domain (3);	0.140683	0.45606	D	0.000346	T	0.48295	0.1492	M	0.67397	2.05	0.29588	N	0.848666	D	0.89917	1.0	D	0.87578	0.998	T	0.49744	-0.8907	10	0.87932	D	0	-26.9103	13.7276	0.62767	0.0:0.0:1.0:0.0	.	330	Q8TE82	S3TC1_HUMAN	N	68;330;254;159;139	ENSP00000245105:D330N;ENSP00000441045:D254N;ENSP00000426035:D139N	ENSP00000245105:D330N	D	+	1	0	SH3TC1	8272033	1.000000	0.71417	0.039000	0.18376	0.452000	0.32318	6.722000	0.74735	1.893000	0.54813	0.491000	0.48974	GAC		TCGA-IB-7651-01A-11D-2154-08	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1	102	406	0	76	1	9.985248e-01	4	37	0	76	2		0	0	0	0	0	2	1	1	101	400	1	75	21								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3TC1	54436	broad.mit.edu	37	4	8228996	8228996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8228996G>A	ENST00000245105.3	+	12	1642	c.1575G>A	c.(1573-1575)tgG>tgA	p.W525*	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.W449*	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1			33					CGCTGCCGTGGCTGAGCAGCG	0.677000													NSCLC(145;2298 2623 35616 37297)											0							SO:0001587	stop_gained			ENST00000245105.3	0	1	hg19	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984784	0.35036	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.66	-2.8	0.05823	.	1.420050	0.04144	N	0.320109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.6626	3.8624	0.09002	0.0804:0.3468:0.1596:0.4133	.	.	.	.	X	263;525;449;354	.	ENSP00000245105:W525X	W	+	3	0	SH3TC1	8279896	0.190000	0.23276	0.001000	0.08648	0.018000	0.09664	0.169000	0.16641	-0.229000	0.09854	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	0	17	104	0	20	1	9.852836e-01	4	42	0	20	2		0	0	0	0	0	2	1	9.999720e-01	16	102	0	20	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998049	0.990000	1	9.900000e-01	1
SH3TC1	54436	broad.mit.edu	37	4	8229700	8229700	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229700G>T	ENST00000245105.3	+	12	2346	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	SH3TC1_ENST00000539824.1_Missense_Mutation_p.S684I	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1			33					CAGCCCCACAGCCTCCCTGCC	0.692000													NSCLC(145;2298 2623 35616 37297)											0							SO:0001583	missense			ENST00000245105.3	1	1	hg19	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	1.898	-0.453765	0.04540	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76316	-0.36;-1.01	4.37	1.16	0.20824	.	1.375830	0.04225	N	0.334160	T	0.62636	0.2444	N	0.20986	0.625	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.45220	-0.9276	10	0.31617	T	0.26	-5.0404	1.8949	0.03255	0.1975:0.1081:0.4473:0.247	.	760	Q8TE82	S3TC1_HUMAN	I	498;760;684;589	ENSP00000245105:S760I;ENSP00000441045:S684I	ENSP00000245105:S760I	S	+	2	0	SH3TC1	8280600	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	0.102000	0.15272	0.302000	0.22762	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1	64	274	0	55	1	9.986407e-01	4	41	0	55	2		0	0	0	0	0	2	1	1	63	271	0	54	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3TC1	54436	broad.mit.edu	37	4	8229864	8229864	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229864G>T	ENST00000245105.3	+	12	2510	c.2443G>T	c.(2443-2445)Gcc>Tcc	p.A815S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A739S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1			33					GGCAGTGGAAGCCAGTGCTAT	0.677000													NSCLC(145;2298 2623 35616 37297)											0							SO:0001583	missense			ENST00000245105.3	1	1	hg19	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273038	0.01421	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.72835	-0.69;-0.69	4.32	1.39	0.22231	Tetratricopeptide-like helical (1);	0.563940	0.18719	N	0.133078	T	0.48804	0.1520	L	0.35414	1.06	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15549	-1.0433	10	0.19147	T	0.46	-6.7967	0.7923	0.01059	0.1778:0.2438:0.2871:0.2913	.	815	Q8TE82	S3TC1_HUMAN	S	553;815;739;644	ENSP00000245105:A815S;ENSP00000441045:A739S	ENSP00000245105:A815S	A	+	1	0	SH3TC1	8280764	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.279000	0.08479	0.278000	0.22164	-0.475000	0.04921	GCC		TCGA-IB-7651-01A-11D-2154-08	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1	39	155	0	30	1	9.991114e-01	3	43	0	30	2		0	0	0	0	0	2	1	1	39	151	0	30	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTRA3	94031	broad.mit.edu	37	4	8284228	8284228	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8284228C>T	ENST00000307358.2	+	2	654	c.450C>T	c.(448-450)atC>atT	p.I150I	HTRA3_ENST00000382512.3_Silent_p.I150I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3			18					TGGAGAAGATCGCACCAGCCG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000307358.2	0	1	hg19	CCDS3400.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	0	0	0	6	188	0	35	0	9.992589e-01	0	504	0	35	2		0	0	0	0	0	2	1	9.639860e-01	6	185	0	34	2								-7.860055	1	1	121408	4	37	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.400000	0.160000	1.000000	0.350000	0.445089	0.400000	0	2.600000e-01	6.100000e-01
HTRA3	94031	broad.mit.edu	37	4	8288479	8288479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8288479C>T	ENST00000307358.2	+	3	881	c.677C>T	c.(676-678)tCg>tTg	p.S226L	HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3			18					GACAAGAAGTCGGACATTGCC	0.622000																								0							SO:0001583	missense			ENST00000307358.2	1	1	hg19	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612385	0.28712	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.86030	-2.06;-2.06	4.08	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.64402	D	0.000002	T	0.77758	0.4178	L	0.39692	1.235	0.80722	D	1	B;B	0.19583	0.002;0.037	B;B	0.17098	0.006;0.017	T	0.69435	-0.5146	10	0.27785	T	0.31	-14.0686	11.5947	0.50966	0.0:0.9107:0.0:0.0893	.	226;226	P83110;P83110-2	HTRA3_HUMAN;.	L	226	ENSP00000303766:S226L;ENSP00000371952:S226L	ENSP00000303766:S226L	S	+	2	0	HTRA3	8339379	0.999000	0.42202	0.764000	0.31436	0.731000	0.41821	4.413000	0.59795	0.707000	0.31934	0.462000	0.41574	TCG		TCGA-IB-7651-01A-11D-2154-08	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	1	0	0	12	268	0	46	0	1	1	1054	0	46	2		0	0	0	0	0	2	1	9.991530e-01	12	267	0	46	2								-13.546010	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.520000	0.280000	1.000000	0.500000	0.562029	0.520000	0	3.900000e-01	7.200000e-01
TMEM150C	441027	broad.mit.edu	37	4	83411247	83411247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83411247G>T	ENST00000515780.2	-	7	712	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	TMEM150C_ENST00000449862.2_Missense_Mutation_p.L170M|TMEM150C_ENST00000508701.1_3'UTR			B9EJG8	T150C_HUMAN	transmembrane protein 150C			1					GATGCCGACAGAATAACCCGT	0.453000																								0							SO:0001583	missense			ENST00000515780.2	1	1	hg19	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095722	0.36952	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.53857	0.6;0.6	5.62	4.77	0.60923	.	.	.	.	.	T	0.69459	0.3113	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71144	-0.4678	9	0.56958	D	0.05	-5.2962	8.4395	0.32808	0.292:0.0:0.708:0.0	.	170	B9EJG8	T150C_HUMAN	M	170	ENSP00000403438:L170M;ENSP00000420919:L170M	ENSP00000403438:L170M	L	-	1	2	TMEM150C	83630271	1.000000	0.71417	0.841000	0.33234	0.108000	0.19459	2.295000	0.43576	1.337000	0.45525	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	1	0	1	82	350	0	106	0	8.347385e-01	0	16	0	106	2		0	0	0	0	0	2	1	1	82	346	0	106	2								-3.482735	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC31A	22872	broad.mit.edu	37	4	83742226	83742226	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83742226A>G	ENST00000395310.2	-	26	3629	c.3447T>C	c.(3445-3447)cgT>cgC	p.R1149R	SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000348405.4_Silent_p.R1110R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000448323.1_Silent_p.R1149R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000432794.1_Silent_p.R1162R|SEC31A_ENST00000264405.5_Silent_p.R898R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000355196.2_Silent_p.R1149R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)		SEC31A/ALK(3)|SEC31A/JAK2(4)	1		Hepatocellular(203;0.114)			GAAACTCCAAACGTTTGCTGG	0.338000																								0							SO:0001819	synonymous_variant			ENST00000395310.2	1	1	hg19	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270299	0.23221	.	.	ENSG00000138674	ENST00000503937	.	.	.	5.62	-1.08	0.09936	.	.	.	.	.	T	0.65595	0.2706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-11.6076	13.9446	0.64077	0.1817:0.0:0.8183:0.0	.	.	.	.	A	312	.	.	V	-	2	0	SEC31A	83961250	0.993000	0.37304	0.995000	0.50966	0.983000	0.72400	0.290000	0.18975	-0.129000	0.11620	-0.250000	0.11733	GTT		TCGA-IB-7651-01A-11D-2154-08	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	1	0	1	126	721	0	172	1	1	121	690	0	172	2		0	0	0	0	0	2	1	1	125	706	0	170	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC31A	22872	broad.mit.edu	37	4	83784500	83784500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83784500C>A	ENST00000395310.2	-	12	1662	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)		SEC31A/ALK(3)|SEC31A/JAK2(4)	1		Hepatocellular(203;0.114)			TTTCTGTATCCTAGAAGTTCA	0.308000																								0							SO:0001587	stop_gained			ENST00000395310.2	0	1	hg19	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.624468|7.624468	0.98396|0.98396	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828;ENST00000512664	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.104337|.	0.64402|.	D|.	0.000003|.	.|T	.|0.76579	.|0.4007	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74999	.|-0.3472	.|3	0.87932|.	D|.	0|.	-3.3031|-3.3031	19.4671|19.4671	0.94946|0.94946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	494;494;494;489;494;494;494;494;494;494;494;494;494;266;494;494;95|136;47	.|.	ENSP00000264405:G266X|.	G|R	-|-	1|2	0|0	SEC31A|SEC31A	84003524|84003524	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.945000|0.945000	0.59286|0.59286	7.818000|7.818000	0.86416|0.86416	2.614000|2.614000	0.88457|0.88457	0.467000|0.467000	0.42956|0.42956	GGA|AGG		TCGA-IB-7651-01A-11D-2154-08	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	1	0	0	17	186	0	66	1	1	5	441	0	66	2		0	0	0	0	0	2	1	9.999652e-01	17	182	0	65	2								-3.075693	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.610000	1.000000	1.000000	0.922042	0.990000	1	7.900000e-01	1
SEC31A	22872	broad.mit.edu	37	4	83793159	83793159	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793159C>T	ENST00000395310.2	-	7	902	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000432794.1_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)		SEC31A/ALK(3)|SEC31A/JAK2(4)	1		Hepatocellular(203;0.114)			ACATCTGGATCACTGGTAACC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000395310.2	1	1	hg19	CCDS3596.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	1	0	1	59	202	0	45	1	1	64	325	0	45	2		0	0	0	0	0	2	1	1	59	200	0	44	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC31A	22872	broad.mit.edu	37	4	83793168	83793168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793168C>T	ENST00000395310.2	-	7	893	c.711G>A	c.(709-711)cgG>cgA	p.R237R	SEC31A_ENST00000448323.1_Silent_p.R237R|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000432794.1_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)		SEC31A/ALK(3)|SEC31A/JAK2(4)	1		Hepatocellular(203;0.114)			TCACTGGTAACCGGTCATCCT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000395310.2	1	1	hg19	CCDS3596.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	1	0	1	50	207	0	44	1	1	89	323	0	44	2		0	0	0	0	0	2	1	1	50	205	0	43	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THAP9	79725	broad.mit.edu	37	4	83822022	83822022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83822022C>A	ENST00000302236.5	+	1	118	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	THAP9-AS1_ENST00000503704.1_RNA|THAP9-AS1_ENST00000504792.2_RNA|THAP9-AS1_ENST00000513581.1_RNA|THAP9-AS1_ENST00000504869.1_RNA|SEC31A_ENST00000355196.2_5'Flank|THAP9-AS1_ENST00000505028.1_RNA|THAP9-AS1_ENST00000511271.1_RNA|THAP9-AS1_ENST00000509007.1_RNA|THAP9-AS1_ENST00000504718.1_RNA|THAP9-AS1_ENST00000504520.2_RNA|THAP9-AS1_ENST00000508772.1_RNA|THAP9-AS1_ENST00000507660.1_RNA|THAP9-AS1_ENST00000512932.1_RNA	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9			33		Hepatocellular(203;0.114)			GGAGCGCGGCCTCTCCTTCCA	0.711000																								0							SO:0001583	missense			ENST00000302236.5	1	1	hg19	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172757	0.57584	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.96011	-3.88	4.53	3.62	0.41486	Zinc finger, C2CH-type (3);	0.416196	0.17817	N	0.160983	D	0.84142	0.5407	N	0.02403	-0.565	0.23876	N	0.996598	P	0.38711	0.643	B	0.38378	0.272	T	0.78091	-0.2339	10	0.10377	T	0.69	-0.0427	7.6213	0.28187	0.0:0.8739:0.0:0.1261	.	23	Q9H5L6	THAP9_HUMAN	I	23	ENSP00000305533:L23I	ENSP00000305533:L23I	L	+	1	0	THAP9	84041046	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.418000	0.21230	1.378000	0.46305	0.467000	0.42956	CTC		TCGA-IB-7651-01A-11D-2154-08	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	1	0	0	75	355	0	60	1	7.284394e-01	6	8	0	60	2		0	0	0	0	0	2	1	1	73	348	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THAP9	79725	broad.mit.edu	37	4	83838940	83838940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83838940C>A	ENST00000302236.5	+	5	1626	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	p.N525K(1)		33		Hepatocellular(203;0.114)			ATAGTAGGAACTGTTATGGAA	0.338000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000302236.5	1	1	hg19	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616179	0.14129	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.91011	-2.77	3.87	3.02	0.34903	.	0.362319	0.24052	N	0.041995	D	0.84964	0.5589	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	B	0.37989	0.262	T	0.81258	-0.1014	10	0.12103	T	0.63	-25.1457	9.742	0.40424	0.0:0.9011:0.0:0.0989	.	525	Q9H5L6	THAP9_HUMAN	K	525	ENSP00000305533:N525K	ENSP00000305533:N525K	N	+	3	2	THAP9	84057964	0.717000	0.27966	0.926000	0.36857	0.021000	0.10359	0.538000	0.23160	1.214000	0.43395	-0.140000	0.14226	AAC		TCGA-IB-7651-01A-11D-2154-08	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	1	0	1	108	520	0	117	0	2.781812e-01	1	5	0	117	2		0	0	0	0	0	2	1	1	104	511	0	117	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIN54	132660	broad.mit.edu	37	4	83861050	83861050	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83861050C>T	ENST00000340417.3	-	6	1611	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I	LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component			14		Hepatocellular(203;0.114)			ACTTGTTTGACAGCCTGAGCT	0.343000																								0							SO:0001583	missense			ENST00000340417.3	1	1	hg19	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023735	0.54683	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	6.08	6.08	0.98989	.	0.130770	0.56097	D	0.000021	T	0.40743	0.1129	N	0.08118	0	0.80722	D	1	B;B;B	0.29862	0.023;0.012;0.259	B;B;B	0.22386	0.012;0.004;0.039	T	0.25502	-1.0130	9	0.35671	T	0.21	-13.0846	20.6721	0.99693	0.0:1.0:0.0:0.0	.	323;284;412	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	I	412;323;191;191;191;323;412	.	ENSP00000341947:V412I	V	-	1	0	LIN54	84080074	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.576000	0.60915	2.894000	0.99253	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	1	0	1	143	553	0	120	1	9.934718e-01	4	28	0	120	2		0	0	0	0	0	2	1	1	140	547	0	120	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACOX3	8310	broad.mit.edu	37	4	8390958	8390958	+	Silent	SNP	G	G	A	rs113402127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8390958G>A	ENST00000356406.5	-	13	1556	c.1479C>T	c.(1477-1479)ccC>ccT	p.P493P	ACOX3_ENST00000503233.1_Silent_p.P493P|ACOX3_ENST00000413009.2_Silent_p.P493P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl			42					CAAGGATGCCGGGATAGGCGT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000356406.5	1	1	hg19	CCDS3401.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4	1	0	1	30	108	0	30	1	9.998652e-01	17	38	0	30	2		0	0	0	0	0	2	1	1	29	108	0	30	2								-3.521419	1	1	121410	7	39	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACOX3	8310	broad.mit.edu	37	4	8396442	8396442	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8396442C>T	ENST00000356406.5	-	10	1161	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T|RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl			42					GCGTAGACAGCTGCCAGATAT	0.572000																								0							SO:0001583	missense			ENST00000356406.5	1	1	hg19	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772563	0.49680	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.96104	-3.91;-3.91;-3.91	4.31	4.31	0.51392	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.45581	1.43	0.80722	D	1	D;D;D	0.60575	0.974;0.985;0.988	P;P;P	0.61722	0.677;0.828;0.893	D	0.93855	0.7148	10	0.20519	T	0.43	-22.3756	16.0751	0.80962	0.0:1.0:0.0:0.0	.	362;362;362	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	T	362	ENSP00000413994:A362T;ENSP00000348775:A362T;ENSP00000421625:A362T	ENSP00000348775:A362T	A	-	1	0	ACOX3	8447342	1.000000	0.71417	0.235000	0.24058	0.058000	0.15608	6.375000	0.73137	2.395000	0.81488	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4	1	0	1	35	115	0	34	1	9.999596e-01	16	40	0	34	2		0	0	0	0	0	2	1	1	35	114	0	34	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM175A	84142	broad.mit.edu	37	4	84390190	84390190	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390190T>C	ENST00000321945.7	-	6	699	c.591A>G	c.(589-591)acA>acG	p.T197T	FAM175A_ENST00000506553.1_Silent_p.T148T|FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A			13					CTTACCTGTGTGTTTGTACTG	0.363000																								0							SO:0001819	synonymous_variant			ENST00000321945.7	1	1	hg19	CCDS3605.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	1	0	1	131	473	0	124	1	9.989442e-01	9	30	0	124	2		0	0	0	0	0	2	1	1	130	465	0	123	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM175A	84142	broad.mit.edu	37	4	84390218	84390218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390218G>A	ENST00000321945.7	-	6	671	c.563C>T	c.(562-564)tCc>tTc	p.S188F	FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F|FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A			13					AAAACCAGTGGACATACAGGA	0.363000																								0							SO:0001583	missense			ENST00000321945.7	1	1	hg19	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663703	0.67700	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.45668	0.89;0.89	5.38	4.51	0.55191	.	0.050360	0.85682	D	0.000000	T	0.64000	0.2559	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68349	-0.5432	10	0.87932	D	0	-13.6146	16.1534	0.81640	0.0:0.1331:0.8669:0.0	.	188	Q6UWZ7	F175A_HUMAN	F	188;139	ENSP00000369857:S188F;ENSP00000426763:S139F	ENSP00000369857:S188F	S	-	2	0	FAM175A	84609242	1.000000	0.71417	0.056000	0.19401	0.841000	0.47740	7.142000	0.77339	2.518000	0.84900	0.555000	0.69702	TCC		TCGA-IB-7651-01A-11D-2154-08	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	1	0	1	141	524	0	130	1	9.989600e-01	4	36	0	130	2		0	0	0	0	0	2	1	1	139	516	0	129	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM175A	84142	broad.mit.edu	37	4	84391390	84391390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84391390G>A	ENST00000321945.7	-	5	550	c.442C>T	c.(442-444)Cga>Tga	p.R148*	FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A			13					TGTTCCAGTCGATGAGTAGAG	0.348000																								0							SO:0001587	stop_gained			ENST00000321945.7	0	1	hg19	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	G	37	6.046630	0.97231	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	.	.	.	5.9	2.86	0.33363	.	0.168866	0.49916	D	0.000136	.	.	.	.	.	.	0.51482	D	0.999924	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2989	9.8395	0.40991	0.0788:0.0:0.6061:0.315	.	.	.	.	X	148;99;99	.	ENSP00000369857:R148X	R	-	1	2	FAM175A	84610414	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.988000	0.40697	0.777000	0.33496	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	1	0	1	105	393	0	99	0	9.849349e-01	0	27	0	99	2		0	0	0	0	0	2	1	1	100	388	0	99	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAK	2580	broad.mit.edu	37	4	845593	845593	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845593C>T	ENST00000314167.4	-	25	3563	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	GAK_ENST00000511163.1_Silent_p.S1072S|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	p.S1151S(1)		39					CACTGAAGTTCGAGGCATAGT	0.667000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000314167.4	1	1	hg19	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566622	0.03910	0.0	1.16E-4	ENSG00000178950	ENST00000511980	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.40909	0.1136	.	.	.	0.48452	D	0.999653	.	.	.	.	.	.	T	0.51624	-0.8682	4	.	.	.	-3.5356	4.0179	0.09652	0.142:0.4583:0.1078:0.292	.	.	.	.	Q	307	.	.	R	-	2	0	GAK	835593	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-2.579000	0.00907	-3.608000	0.00133	-1.240000	0.01540	CGA		TCGA-IB-7651-01A-11D-2154-08	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1	78	380	0	70	1	1	56	112	0	70	2		0	0	0	0	0	2	1	1	75	376	0	69	2								-3.344839	1	1	121406	4	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase			39					GGGCGTGGTGGCCGTTTTGGG	0.642000																								0							SO:0001583	missense			ENST00000314167.4	1	1	hg19	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052048|3.052048	0.55218|0.55218	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.78816|.	-0.75;-1.21|.	4.69|4.69	0.642|0.642	0.17765|0.17765	.|.	0.900083|.	0.09447|.	N|.	0.800923|.	T|T	0.32585|0.32585	0.0834|0.0834	L|L	0.39147|0.39147	1.195|1.195	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23442|.	0.085;0.031;0.085;0.038|.	B;B;B;B|.	0.21151|.	0.033;0.006;0.033;0.022|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.51188|.	T|.	0.08|.	-19.6619|-19.6619	4.9436|4.9436	0.13978|0.13978	0.1951:0.3334:0.4715:0.0|0.1951:0.3334:0.4715:0.0	.|.	1012;1031;1110;995|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	V|S	386;1110;1031|266	ENSP00000314499:A1110V;ENSP00000421361:A1031V|.	ENSP00000314499:A1110V|.	A|P	-|-	2|1	0|0	GAK|GAK	835717|835717	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.575000|0.575000	0.23729|0.23729	0.179000|0.179000	0.19938|0.19938	0.561000|0.561000	0.74099|0.74099	GCC|CCA		TCGA-IB-7651-01A-11D-2154-08	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1	43	177	0	30	1	1	66	121	0	30	2		0	0	0	0	0	2	1	1	43	172	0	29	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDFY3	23001	broad.mit.edu	37	4	85600086	85600086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85600086C>T	ENST00000295888.4	-	65	10540	c.10133G>A	c.(10132-10134)aGc>aAc	p.S3378N	WDFY3_ENST00000322366.6_Missense_Mutation_p.S3361N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3			134		Hepatocellular(203;0.114)			TTTCAATCTGCTGTAATTCCG	0.517000																								0							SO:0001583	missense			ENST00000295888.4	1	1	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548834	0.13312	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62941	-0.01;-0.01	4.81	3.88	0.44766	WD40 repeat-like-containing domain (1);	0.325080	0.40554	N	0.001078	T	0.27169	0.0666	N	0.01048	-1.04	0.37895	D	0.930854	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	10	0.10902	T	0.67	.	9.9806	0.41811	0.0:0.8333:0.0:0.1667	.	3378	Q8IZQ1	WDFY3_HUMAN	N	3361;3378	ENSP00000318466:S3361N;ENSP00000295888:S3378N	ENSP00000295888:S3378N	S	-	2	0	WDFY3	85819110	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.453000	0.35167	2.483000	0.83821	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1	92	483	0	83	1	9.992079e-01	13	44	0	83	2		0	0	0	0	0	2	1	1	91	474	0	83	2								-20.000000	1	1	121410	3	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDFY3	23001	broad.mit.edu	37	4	85605150	85605150	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85605150G>A	ENST00000295888.4	-	63	10079	c.9672C>T	c.(9670-9672)aaC>aaT	p.N3224N	WDFY3_ENST00000322366.6_Silent_p.N3207N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3			134		Hepatocellular(203;0.114)			TGTCCCATTCGTTCATCTCCG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000295888.4	1	1	hg19	CCDS3609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1	72	281	0	63	1	9.999852e-01	11	55	0	63	2		0	0	0	0	0	2	1	1	72	278	0	63	2								-3.710512	1	1	121412	7	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDFY3	23001	broad.mit.edu	37	4	85617954	85617954	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85617954C>T	ENST00000295888.4	-	57	9026	c.8619G>A	c.(8617-8619)aaG>aaA	p.K2873K	WDFY3_ENST00000322366.6_Silent_p.K2856K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3			134		Hepatocellular(203;0.114)			CATCTCCAAGCTTGGTGCCAT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000295888.4	1	1	hg19	CCDS3609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1	50	277	0	58	1	9.993287e-01	12	51	0	58	2		0	0	0	0	0	2	1	1	48	274	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
WDFY3	23001	broad.mit.edu	37	4	85715716	85715716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85715716C>T	ENST00000295888.4	-	21	3850	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1148Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3			134		Hepatocellular(203;0.114)			AATCAGAGATCGGTCTTTTGC	0.368000																								0							SO:0001583	missense			ENST00000295888.4	1	1	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152751	0.78001	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.47177	0.85;0.85	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.059441	0.64402	D	0.000002	T	0.38612	0.1047	L	0.53249	1.67	0.80722	D	1	P	0.46395	0.877	B	0.34138	0.176	T	0.39502	-0.9611	10	0.45353	T	0.12	.	12.3958	0.55384	0.0:0.9226:0.0:0.0774	.	1148	Q8IZQ1	WDFY3_HUMAN	Q	1148	ENSP00000318466:R1148Q;ENSP00000295888:R1148Q	ENSP00000295888:R1148Q	R	-	2	0	WDFY3	85934740	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	5.538000	0.67193	2.563000	0.86464	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1	99	700	0	120	1	9.714689e-01	6	36	0	120	2		0	0	0	0	0	2	1	1	98	691	0	119	2								-20.000000	1	1	121412	1	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
WDFY3	23001	broad.mit.edu	37	4	85750255	85750255	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750255A>C	ENST00000295888.4	-	9	1265	c.858T>G	c.(856-858)ctT>ctG	p.L286L	WDFY3_ENST00000322366.6_Silent_p.L286L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3			134		Hepatocellular(203;0.114)			GGAAACAAGAAAGCCCAGCAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000295888.4	1	1	hg19	CCDS3609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1	79	372	0	60	1	8.862149e-01	3	17	0	60	2		0	0	0	0	0	2	1	1	79	369	0	60	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDFY3	23001	broad.mit.edu	37	4	85750273	85750273	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750273G>A	ENST00000295888.4	-	9	1247	c.840C>T	c.(838-840)gtC>gtT	p.V280V	WDFY3_ENST00000322366.6_Silent_p.V280V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	p.V280V(1)		134		Hepatocellular(203;0.114)			CAAACATTTCGACAATTTCTA	0.358000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000295888.4	1	1	hg19	CCDS3609.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1	81	358	0	65	1	9.736052e-01	5	23	0	65	2		0	0	0	0	0	2	1	1	80	351	0	65	2								-3.427077	1	0	121412	2	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDFY3	23001	broad.mit.edu	37	4	85758135	85758135	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85758135T>G	ENST00000295888.4	-	7	930	c.523A>C	c.(523-525)Aat>Cat	p.N175H	WDFY3_ENST00000322366.6_Missense_Mutation_p.N175H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3			134		Hepatocellular(203;0.114)			GGTAGCTCATTCTGTGCACCT	0.453000																								0							SO:0001583	missense			ENST00000295888.4	1	1	hg19	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249306	0.59103	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64991	-0.13;-0.13	5.76	5.76	0.90799	.	0.196716	0.53938	D	0.000047	T	0.43255	0.1239	N	0.08118	0	0.50467	D	0.999871	P;P	0.40107	0.703;0.571	B;B	0.35607	0.206;0.206	T	0.51942	-0.8641	10	0.51188	T	0.08	.	16.0697	0.80914	0.0:0.0:0.0:1.0	.	175;175	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	175	ENSP00000318466:N175H;ENSP00000295888:N175H	ENSP00000295888:N175H	N	-	1	0	WDFY3	85977159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.992000	0.56980	2.190000	0.69967	0.374000	0.22700	AAT		TCGA-IB-7651-01A-11D-2154-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	1	48	223	0	60	1	8.281489e-01	3	14	0	60	2		0	0	0	0	0	2	1	1	46	221	0	60	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAK	2580	broad.mit.edu	37	4	860197	860197	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:860197G>A	ENST00000314167.4	-	22	3108	c.2998C>T	c.(2998-3000)Cac>Tac	p.H1000Y	GAK_ENST00000511163.1_Missense_Mutation_p.H921Y|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase			39					GGAGCACTGTGGGCAGACGGG	0.627000																								0							SO:0001583	missense			ENST00000314167.4	1	1	hg19	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.229|3.229	-0.157847|-0.157847	0.06544|0.06544	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	T;T|.	0.78126|.	-0.7;-1.15|.	5.24|5.24	4.38|4.38	0.52667|0.52667	.|.	0.243165|.	0.40908|.	D|.	0.000991|.	T|T	0.63931|0.63931	0.2553|0.2553	L|L	0.60455|0.60455	1.87|1.87	0.38800|0.38800	D|D	0.955176|0.955176	B;P;B;B|.	0.40578|.	0.262;0.722;0.161;0.263|.	B;B;B;B|.	0.33454|.	0.147;0.164;0.104;0.067|.	T|T	0.64753|0.64753	-0.6333|-0.6333	10|5	0.49607|.	T|.	0.09|.	-30.6063|-30.6063	12.7363|12.7363	0.57225|0.57225	0.0:0.0:0.8341:0.1659|0.0:0.0:0.8341:0.1659	.|.	902;921;1000;885|.	B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;GAK_HUMAN;.|.	Y|L	276;1000;921|119	ENSP00000314499:H1000Y;ENSP00000421361:H921Y|.	ENSP00000314499:H1000Y|.	H|P	-|-	1|2	0|0	GAK|GAK	850197|850197	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.033000|0.033000	0.12548|0.12548	3.085000|3.085000	0.50151|0.50151	1.162000|1.162000	0.42619|0.42619	0.561000|0.561000	0.74099|0.74099	CAC|CCA		TCGA-IB-7651-01A-11D-2154-08	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1	50	269	0	46	1	1	53	149	0	46	2		0	0	0	0	0	2	1	1	50	264	0	46	2								-3.087633	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CPZ	8532	broad.mit.edu	37	4	8616132	8616132	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8616132G>A	ENST00000360986.4	+	9	1584	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	CPZ_ENST00000429646.2_Silent_p.T78T|CPZ_ENST00000315782.6_Silent_p.T459T|CPZ_ENST00000382480.2_Silent_p.T333T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z			46					TTGAGATCACGGTAGAGCTGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000360986.4	1	1	hg19	CCDS33953.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	1	0	1	75	339	0	77	0	1	0	174	0	77	2		0	0	0	0	0	2	1	1	73	336	0	77	2								-2.575222	1	1	121410	11	42	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPZ	8532	broad.mit.edu	37	4	8620238	8620238	+	Missense_Mutation	SNP	G	G	A	rs143243881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8620238G>A	ENST00000360986.4	+	10	1760	c.1586G>A	c.(1585-1587)cGc>cAc	p.R529H	CPZ_ENST00000429646.2_Missense_Mutation_p.R137H|CPZ_ENST00000315782.6_Missense_Mutation_p.R518H|CPZ_ENST00000382480.2_Missense_Mutation_p.R392H	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z			46					AAAGGCATTCGCCACGACATC	0.597000																								0							SO:0001583	missense			ENST00000360986.4	0	1	hg19	CCDS33953.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.03	2.412400	0.42817	4.54E-4	0.0	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.43688	2.54;2.54;2.54;0.94	5.16	4.32	0.51571	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.064294	0.64402	D	0.000008	T	0.54615	0.1869	L	0.49513	1.565	0.47245	D	0.999363	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.965	T	0.55496	-0.8132	10	0.62326	D	0.03	-41.6269	10.4572	0.44557	0.1709:0.0:0.8291:0.0	.	518;529	Q66K79-2;Q66K79	.;CBPZ_HUMAN	H	529;392;518;137	ENSP00000354255:R529H;ENSP00000371920:R392H;ENSP00000315074:R518H;ENSP00000403981:R137H	ENSP00000315074:R518H	R	+	2	0	CPZ	8671138	1.000000	0.71417	0.963000	0.40424	0.068000	0.16541	2.592000	0.46171	1.161000	0.42604	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	0	0	0	6	196	0	36	0	9.907318e-01	0	294	0	36	2		0	0	0	0	0	2	1	9.598384e-01	6	186	0	36	2								-7.724830	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.380000	0.150000	1.000000	0.350000	0.430229	0.380000	0	2.500000e-01	5.800000e-01
ARHGAP24	83478	broad.mit.edu	37	4	86491742	86491742	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86491742G>A	ENST00000395184.1	+	2	514	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24			24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			AAGGCCAAGGGCGGCAGAATG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000395184.1	1	1	hg19	CCDS34025.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	1	0	1	48	205	0	60	0	7.374271e-01	0	13	0	60	2		0	0	0	0	0	2	1	1	47	203	0	59	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP24	83478	broad.mit.edu	37	4	86863294	86863294	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86863294T>C	ENST00000395184.1	+	5	933	c.467T>C	c.(466-468)gTg>gCg	p.V156A	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24			24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			CCGATGTTGGTGGAGCAGTGC	0.473000																								0							SO:0001583	missense			ENST00000395184.1	1	1	hg19	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	T	33	5.205174	0.95033	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.52295	1.77;1.77;0.67;1.77;1.77;1.77;1.77	5.98	5.98	0.97165	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.996;0.999	D	0.84349	0.0531	10	0.72032	D	0.01	.	16.4731	0.84124	0.0:0.0:0.0:1.0	.	61;63;156;156	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	A	156;156;61;61;30;71;63	ENSP00000378611:V156A;ENSP00000423206:V156A;ENSP00000426105:V61A;ENSP00000378610:V61A;ENSP00000424256:V30A;ENSP00000425589:V71A;ENSP00000264343:V63A	ENSP00000264343:V63A	V	+	2	0	ARHGAP24	87082318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.970000	0.88000	2.293000	0.77203	0.528000	0.53228	GTG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	1	0	1	48	218	0	54	1	9.895560e-01	3	32	0	54	2		0	0	0	0	0	2	1	1	48	215	0	53	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP24	83478	broad.mit.edu	37	4	86916302	86916302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86916302C>T	ENST00000395184.1	+	9	1961	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*|ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	p.R406*(1)|p.R499*(1)		24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			CACAAATGTTCGAAACATGAG	0.507000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000395184.1	0	1	hg19	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.547352	0.98352	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	.	.	.	5.87	4.01	0.46588	.	0.171377	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6745	0.68969	0.2643:0.7357:0.0:0.0	.	.	.	.	X	499;404;414;406	.	ENSP00000264343:R406X	R	+	1	2	ARHGAP24	87135326	0.634000	0.27190	0.237000	0.24090	0.097000	0.18754	1.293000	0.33353	1.443000	0.47586	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	1	0	1	86	359	0	101	0	9.998228e-01	0	55	0	101	2		0	0	0	0	0	2	1	1	84	351	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAK	2580	broad.mit.edu	37	4	871406	871406	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:871406A>G	ENST00000314167.4	-	16	1963	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GAK_ENST00000511163.1_Missense_Mutation_p.M539T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase			39					CACTCACCGCATCTTGTCGTA	0.652000																								0							SO:0001583	missense			ENST00000314167.4	1	1	hg19	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192949	0.78902	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.84800	-1.9;-1.9	5.71	5.71	0.89125	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.70487	0.938;0.92;0.969;0.969	D	0.92856	0.6301	10	0.72032	D	0.01	.	13.9333	0.64010	1.0:0.0:0.0:0.0	.	539;539;618;514	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	T	618;539	ENSP00000314499:M618T;ENSP00000421361:M539T	ENSP00000314499:M618T	M	-	2	0	GAK	861406	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	8.619000	0.90938	2.178000	0.69098	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1	47	246	0	47	1	1	80	159	0	47	2		0	0	0	0	0	2	1	1	46	240	0	47	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PTPN13	5783	broad.mit.edu	37	4	87622493	87622493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87622493C>T	ENST00000411767.2	+	7	797	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000436978.1_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)			93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			GGATTTCTGTCCATCAAAGAT	0.368000																								0							SO:0001583	missense			ENST00000411767.2	1	1	hg19	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889809	0.72524	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.55	5.55	0.83447	.	0.150735	0.31010	N	0.008434	T	0.55210	0.1906	L	0.57536	1.79	0.38638	D	0.951532	D;D;D;D	0.64830	0.994;0.991;0.984;0.991	P;P;P;P	0.59643	0.832;0.861;0.73;0.861	T	0.58132	-0.7690	10	0.59425	D	0.04	.	19.5071	0.95124	0.0:1.0:0.0:0.0	.	245;245;245;245	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	F	245;245;245;245;245;213	ENSP00000408368:S245F;ENSP00000394794:S245F;ENSP00000322675:S245F;ENSP00000407249:S245F;ENSP00000426626:S245F	ENSP00000322675:S245F	S	+	2	0	PTPN13	87841517	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.359000	0.66074	2.617000	0.88574	0.557000	0.71058	TCC		TCGA-IB-7651-01A-11D-2154-08	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	0	0	1	15	89	0	26	1	8.401030e-01	6	16	0	26	2		0	0	0	0	0	2	1	9.999076e-01	15	88	0	26	2								-19.999990	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.997634	0.990000	1	9.900000e-01	1
PTPN13	5783	broad.mit.edu	37	4	87637706	87637706	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87637706T>C	ENST00000411767.2	+	8	1282	c.1219T>C	c.(1219-1221)Tat>Cat	p.Y407H	PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000436978.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)			93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			ATACAAAACTTATCATGGTGA	0.323000																								0							SO:0001583	missense			ENST00000411767.2	0	1	hg19	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429610	0.43122	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.59364	0.27;0.31;0.42;0.28;0.31	5.27	4.09	0.47781	.	0.165491	0.28510	N	0.015093	T	0.63581	0.2523	M	0.67953	2.075	0.44042	D	0.996777	P;P;P;P	0.49961	0.828;0.915;0.93;0.915	P;P;P;P	0.53360	0.632;0.724;0.665;0.724	T	0.59794	-0.7387	10	0.22109	T	0.4	.	11.166	0.48543	0.0:0.0728:0.0:0.9272	.	407;407;407;407	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	407;407;407;407;407;375	ENSP00000408368:Y407H;ENSP00000394794:Y407H;ENSP00000322675:Y407H;ENSP00000407249:Y407H;ENSP00000426626:Y407H	ENSP00000322675:Y407H	Y	+	1	0	PTPN13	87856730	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	5.344000	0.65981	0.961000	0.38030	-0.380000	0.06706	TAT		TCGA-IB-7651-01A-11D-2154-08	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	1	0	0	6	40	0	8	1	8.134644e-01	5	18	0	8	2		0	0	0	0	0	2	1	9.637393e-01	6	38	0	8	2								-12.982120	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.650000	1.000000	1.000000	0.970762	0.990000	1	9.900000e-01	1
PTPN13	5783	broad.mit.edu	37	4	87672030	87672030	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87672030A>C	ENST00000411767.2	+	18	3121	c.3058A>C	c.(3058-3060)Aaa>Caa	p.K1020Q	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)			93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			AGGAGTGACAAAACTTAATAA	0.348000																								0							SO:0001583	missense			ENST00000411767.2	1	1	hg19	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523597	0.27299	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.52526	0.66;0.71;0.66;0.71	6.16	4.97	0.65823	.	0.112377	0.39083	N	0.001464	T	0.40222	0.1108	L	0.41236	1.265	0.35504	D	0.800014	B;B;B	0.24618	0.063;0.065;0.107	B;B;B	0.22386	0.039;0.015;0.034	T	0.44802	-0.9304	10	0.37606	T	0.19	.	13.8654	0.63585	0.8731:0.1269:0.0:0.0	.	1020;1020;1020	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	Q	1020;1020;1020;1020;988	ENSP00000408368:K1020Q;ENSP00000394794:K1020Q;ENSP00000407249:K1020Q;ENSP00000426626:K1020Q	ENSP00000349909:K988Q	K	+	1	0	PTPN13	87891054	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.163000	0.64948	1.115000	0.41800	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	1	0	1	17	90	0	25	1	9.868455e-01	6	35	0	25	2		0	0	0	0	0	2	1	9.999755e-01	17	88	0	25	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999330	0.990000	1	9.900000e-01	1
GAK	2580	broad.mit.edu	37	4	877192	877192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:877192G>A	ENST00000314167.4	-	13	1425	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	GAK_ENST00000511163.1_Missense_Mutation_p.R360W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase			39					AGGAACAACCGCACATCTTCG	0.577000																								0							SO:0001583	missense			ENST00000314167.4	1	1	hg19	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029078	0.54790	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98567	-5.0;-5.0	5.34	4.48	0.54585	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.968;0.997;0.995	D	0.99548	1.0965	10	0.87932	D	0	-36.7377	12.9889	0.58608	0.0:0.0:0.8372:0.1628	.	360;360;439;335	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	439;360	ENSP00000314499:R439W;ENSP00000421361:R360W	ENSP00000314499:R439W	R	-	1	2	GAK	867192	1.000000	0.71417	0.451000	0.26982	0.012000	0.07955	3.165000	0.50778	1.208000	0.43306	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1	90	511	0	123	1	1	39	119	0	123	2		0	0	0	0	0	2	1	1	88	505	0	123	2								-3.222247	1	1	121412	4	38	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC10A6	345274	broad.mit.edu	37	4	87752952	87752952	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87752952A>C	ENST00000273905.6	-	3	725	c.578T>G	c.(577-579)aTt>aGt	p.I193S	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6			9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)			CACCTTGAGAATGATTTTGGA	0.473000																								0							SO:0001583	missense			ENST00000273905.6	1	1	hg19	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.406940	0.62399	.	.	ENSG00000145283	ENST00000273905	T	0.11821	2.74	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000008	T	0.35799	0.0944	M	0.75264	2.295	0.36869	D	0.888834	D	0.89917	1.0	D	0.85130	0.997	T	0.43845	-0.9366	10	0.87932	D	0	-18.9054	11.2388	0.48958	1.0:0.0:0.0:0.0	.	193	Q3KNW5	SOAT_HUMAN	S	193	ENSP00000273905:I193S	ENSP00000273905:I193S	I	-	2	0	SLC10A6	87971976	1.000000	0.71417	0.994000	0.49952	0.845000	0.48019	6.311000	0.72835	1.958000	0.56883	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	1	0	1	21	101	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	9.999984e-01	21	98	0	24	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999895	0.990000	1	9.900000e-01	1
C4orf36	132989	broad.mit.edu	37	4	87809352	87809352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87809352C>A	ENST00000473559.1	-	6	805	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E48*|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36			4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			GAAATTTCTTCCAAGAAAGGC	0.418000																								0							SO:0001587	stop_gained			ENST00000473559.1	0	1	hg19	CCDS3615.1	.	.	.	.	.	.	.	.	.	.	C	39	7.514727	0.98332	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	.	.	.	5.13	3.39	0.38822	.	0.351640	0.24592	N	0.037207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.2562	6.992	0.24761	0.0:0.7333:0.1743:0.0925	.	.	.	.	X	48	.	ENSP00000295898:E48X	E	-	1	0	C4orf36	88028376	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.233000	0.32648	0.736000	0.32559	-0.274000	0.10170	GAA		TCGA-IB-7651-01A-11D-2154-08	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2	0	0	0	10	426	0	80	0	1.159357e-01	0	23	0	80	2		0	0	0	0	0	2	1	9.966148e-01	10	418	0	79	2								-3.106391	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.280000	0.140000	1.000000	0.270000	0.333371	0.280000	0	2.000000e-01	4.000000e-01
AFF1	4299	broad.mit.edu	37	4	87968170	87968170	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87968170G>A	ENST00000307808.6	+	3	882	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AFF1_ENST00000395146.4_Silent_p.P161P|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1			3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)			GCGGCCCACCGGACAGCCAGC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000307808.6	1	1	hg19	CCDS3616.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	0	35	385	0	96	1	9.651956e-01	4	58	0	96	2		0	0	0	0	0	2	1	1	35	378	0	94	2								-3.017764	1	1	121412	3	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.939426	0.990000	1	8.400000e-01	1
AFF1	4299	broad.mit.edu	37	4	88035526	88035526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035526C>A	ENST00000307808.6	+	11	1940	c.1520C>A	c.(1519-1521)cCt>cAt	p.P507H	AFF1_ENST00000395146.4_Missense_Mutation_p.P514H|AFF1_ENST00000544085.1_Missense_Mutation_p.P145H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1			3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)			TAGCCTGAGCCTCCAACAACA	0.493000																								0							SO:0001583	missense			ENST00000307808.6	1	1	hg19	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.278086	0.40294	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.70399	-0.48;-0.48;-0.48	5.89	5.89	0.94794	.	0.146689	0.48767	D	0.000163	D	0.86451	0.5936	M	0.83774	2.66	0.50632	D	0.999882	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.87195	0.2237	10	0.87932	D	0	-20.0312	20.2566	0.98424	0.0:1.0:0.0:0.0	.	514;507;507	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	H	514;166;507;145	ENSP00000378578:P514H;ENSP00000305689:P507H;ENSP00000440843:P145H	ENSP00000305689:P507H	P	+	2	0	AFF1	88254550	0.977000	0.34250	1.000000	0.80357	0.439000	0.31926	2.238000	0.43070	2.793000	0.96121	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	0	20	136	0	48	1	9.919584e-01	9	46	0	48	2		0	0	0	0	0	2	1	9.999963e-01	19	134	0	48	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.997245	0.990000	1	9.900000e-01	1
AFF1	4299	broad.mit.edu	37	4	88035561	88035561	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035561C>A	ENST00000307808.6	+	11	1975	c.1555C>A	c.(1555-1557)Ctg>Atg	p.L519M	AFF1_ENST00000395146.4_Missense_Mutation_p.L526M|AFF1_ENST00000544085.1_Missense_Mutation_p.L157M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	p.W525fs*19(2)		3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)			GGACAACTGGCTGACCAAAGT	0.527000																								2	Deletion - Frameshift(2)						SO:0001583	missense			ENST00000307808.6	1	1	hg19	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568193	0.45798	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.74632	-0.86;-0.86;-0.86	5.89	2.85	0.33270	.	0.304358	0.28011	N	0.016958	T	0.78886	0.4354	M	0.75777	2.31	0.37332	D	0.910021	D;D;D	0.63046	0.992;0.992;0.992	P;P;P	0.58077	0.832;0.832;0.832	T	0.76833	-0.2813	10	0.44086	T	0.13	-9.4591	5.0038	0.14277	0.1399:0.6017:0.0:0.2585	.	526;519;519	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	M	526;178;519;157	ENSP00000378578:L526M;ENSP00000305689:L519M;ENSP00000440843:L157M	ENSP00000305689:L519M	L	+	1	2	AFF1	88254585	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	0.673000	0.25203	0.233000	0.21120	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	0	20	147	0	45	1	8.456008e-01	3	24	0	45	2		0	0	0	0	0	2	1	9.999964e-01	20	145	0	44	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.910000	1.000000	1.000000	0.994746	0.990000	1	9.900000e-01	1
AFF1	4299	broad.mit.edu	37	4	88036157	88036157	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88036157C>T	ENST00000307808.6	+	11	2571	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	AFF1_ENST00000395146.4_Silent_p.S724S|AFF1_ENST00000544085.1_Silent_p.S355S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1			3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)			ACAGTGGCAGCGGCAGCAGGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000307808.6	1	1	hg19	CCDS3616.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	0	50	215	0	51	1	9.978010e-01	5	38	0	51	2		0	0	0	0	0	2	1	1	46	204	0	49	2								-2.612738	1	1	121364	1	36	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF1	4299	broad.mit.edu	37	4	88047336	88047336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88047336C>T	ENST00000307808.6	+	13	3058	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S	AFF1_ENST00000395146.4_Missense_Mutation_p.P887S|AFF1_ENST00000544085.1_Missense_Mutation_p.P518S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1			3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)			GCCAGCCAAGCCTGCACTTAA	0.587000																								0							SO:0001583	missense			ENST00000307808.6	1	1	hg19	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	7.894	0.732993	0.15507	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.68624	-0.34;-0.34;-0.34	5.65	0.25	0.15535	.	0.463760	0.20292	N	0.095213	T	0.51669	0.1688	M	0.65975	2.015	0.31347	N	0.682981	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.15052	0.012;0.012;0.012	T	0.37911	-0.9685	10	0.09084	T	0.74	-1.5827	2.1445	0.03783	0.1853:0.4709:0.0986:0.2452	.	887;880;880	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	887;880;518	ENSP00000378578:P887S;ENSP00000305689:P880S;ENSP00000440843:P518S	ENSP00000305689:P880S	P	+	1	0	AFF1	88266360	0.575000	0.26692	0.996000	0.52242	0.291000	0.27294	0.436000	0.21526	0.061000	0.16311	-0.142000	0.14014	CCT		TCGA-IB-7651-01A-11D-2154-08	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	1	0	1	78	424	0	88	1	9.999953e-01	14	83	0	88	2		0	0	0	0	0	2	1	1	78	392	0	78	2								-3.321297	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSD17B13	345275	broad.mit.edu	37	4	88231425	88231425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88231425G>A	ENST00000328546.4	-	6	846	c.782C>T	c.(781-783)tCg>tTg	p.S261L	HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13			8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)			ATTGATATACGATGGAACAAA	0.313000																								0							SO:0001583	missense			ENST00000328546.4	1	1	hg19	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800683	0.31869	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.88741	-2.42;-2.42	5.08	4.23	0.50019	.	0.250955	0.27600	N	0.018643	D	0.89287	0.6672	M	0.83223	2.63	0.35195	D	0.77378	B;B	0.24317	0.101;0.097	B;B	0.26094	0.045;0.066	D	0.88930	0.3372	10	0.28530	T	0.3	.	14.6226	0.68597	0.0:0.1467:0.8533:0.0	.	225;261	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	L	225;261	ENSP00000305438:S225L;ENSP00000333300:S261L	ENSP00000305438:S225L	S	-	2	0	HSD17B13	88450449	0.996000	0.38824	0.717000	0.30585	0.447000	0.32167	2.874000	0.48483	1.126000	0.42016	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	1	0	1	70	270	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1	69	260	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSD17B11	51170	broad.mit.edu	37	4	88261694	88261694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88261694G>A	ENST00000358290.4	-	6	1075	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*|RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11			11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			ATCATCTTCTGCTCAGTCAGA	0.363000																								0							SO:0001587	stop_gained			ENST00000358290.4	0	1	hg19	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483056	0.63962	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.64	-0.742	0.11108	.	0.674135	0.14663	N	0.305856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	10.9414	0.47275	0.0:0.1252:0.3101:0.5647	.	.	.	.	X	254;210	.	ENSP00000351035:Q254X	Q	-	1	0	HSD17B11	88480718	0.021000	0.18746	0.613000	0.29037	0.758000	0.43043	-0.102000	0.10956	-0.556000	0.06134	-0.169000	0.13324	CAG		TCGA-IB-7651-01A-11D-2154-08	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	1	0	1	60	247	0	74	1	1	47	265	0	74	2		0	0	0	0	0	2	1	1	60	243	0	74	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSD17B11	51170	broad.mit.edu	37	4	88278563	88278563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88278563C>T	ENST00000358290.4	-	5	878	c.563G>A	c.(562-564)aGc>aAc	p.S188N	HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11			11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			AGCAAACTTGCTTGAACTGAA	0.388000																								0							SO:0001583	missense			ENST00000358290.4	1	1	hg19	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795814	0.70452	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.90676	-2.71;0.08	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.056065	0.85682	D	0.000000	D	0.97025	0.9028	H	0.98068	4.14	0.40500	D	0.980637	D	0.67145	0.996	D	0.71656	0.974	D	0.98446	1.0589	10	0.87932	D	0	.	14.1698	0.65503	0.0:0.8499:0.1501:0.0	.	188	Q8NBQ5	DHB11_HUMAN	N	188;144	ENSP00000351035:S188N;ENSP00000423775:S144N	ENSP00000351035:S188N	S	-	2	0	HSD17B11	88497587	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.715000	0.47210	2.653000	0.90120	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	1	0	1	22	102	0	22	1	1	95	344	0	22	2		0	0	0	0	0	2	1	9.999992e-01	21	100	0	22	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
NUDT9	53343	broad.mit.edu	37	4	88359522	88359522	+	Silent	SNP	G	G	A	rs115855591	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88359522G>A	ENST00000302174.4	+	3	765	c.441G>A	c.(439-441)ccG>ccA	p.P147P	NUDT9_ENST00000473942.1_Silent_p.P97P	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9			11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			ATGGAAGACCGAGGTAGGTAC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000302174.4	1	1	hg19	CCDS3620.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2	1	0	1	60	253	0	64	1	9.999998e-01	16	84	0	64	2		0	0	0	0	0	2	1	1	60	245	0	63	2								-3.047624	1	0	121412	2	35	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPARCL1	8404	broad.mit.edu	37	4	88400699	88400699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88400699G>A	ENST00000282470.6	-	10	2319	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SPARCL1_ENST00000503414.1_Nonsense_Mutation_p.R492*|SPARCL1_ENST00000418378.1_Nonsense_Mutation_p.R617*	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)			21					AGAGATGCTCGCAGAGGAGCA	0.478000																								0							SO:0001587	stop_gained			ENST00000282470.6	0	1	hg19	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	42	9.575148	0.99208	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	.	.	.	5.11	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0128	12.4782	0.55827	0.0:0.0:0.5959:0.4041	.	.	.	.	X	617;617;492;492	.	ENSP00000282470:R617X	R	-	1	2	SPARCL1	88619723	0.809000	0.29036	1.000000	0.80357	0.973000	0.67179	1.043000	0.30316	1.417000	0.47077	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	1	0	1	78	327	0	85	0	1	0	1019	0	85	2		0	0	0	0	0	2	1	1	78	323	0	85	2								-3.521541	1	1	121412	1	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPARCL1	8404	broad.mit.edu	37	4	88414858	88414858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88414858C>T	ENST00000282470.6	-	4	1564	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	SPARCL1_ENST00000503414.1_Missense_Mutation_p.S240N|SPARCL1_ENST00000418378.1_Missense_Mutation_p.S365N	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)			21					AAAGGCCTGGCTTGGGATGAA	0.478000																								0							SO:0001583	missense			ENST00000282470.6	1	1	hg19	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801181	0.70567	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.90676	-2.71;-2.71;-2.71	4.32	4.32	0.51571	.	0.439796	0.25335	N	0.031403	D	0.91925	0.7443	L	0.36672	1.1	0.25029	N	0.991288	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	D	0.84802	0.0785	10	0.62326	D	0.03	-11.5295	12.6178	0.56586	0.0:1.0:0.0:0.0	.	365;365	Q8N4S1;Q14515	.;SPRL1_HUMAN	N	365;365;240;240	ENSP00000282470:S365N;ENSP00000414856:S365N;ENSP00000422903:S240N	ENSP00000282470:S365N	S	-	2	0	SPARCL1	88633882	0.993000	0.37304	1.000000	0.80357	0.727000	0.41649	0.960000	0.29253	2.689000	0.91719	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	1	0	1	72	274	0	50	0	1	0	1109	0	50	2		0	0	0	0	0	2	1	1	71	270	0	50	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPARCL1	8404	broad.mit.edu	37	4	88415481	88415481	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415481G>T	ENST00000282470.6	-	4	941	c.471C>A	c.(469-471)atC>atA	p.I157I	SPARCL1_ENST00000503414.1_Silent_p.I32I|SPARCL1_ENST00000418378.1_Silent_p.I157I	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)			21					CTCTCTTTGTGATACTTTCTT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000282470.6	1	1	hg19	CCDS3622.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	1	0	0	136	644	0	136	0	1	1	1441	0	136	2		0	0	0	0	0	2	1	1	134	631	0	135	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IBSP	3381	broad.mit.edu	37	4	88731834	88731834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88731834C>A	ENST00000226284.5	+	6	390	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein			21		Hepatocellular(203;0.114)			ACCACACTTTCTGCTACAACA	0.428000																								0							SO:0001583	missense			ENST00000226284.5	1	1	hg19	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048949	0.55110	.	.	ENSG00000029559	ENST00000226284	T	0.16073	2.37	5.23	4.36	0.52297	.	0.450652	0.21382	N	0.075451	T	0.38427	0.1040	M	0.73598	2.24	0.09310	N	1	D	0.63046	0.992	D	0.63877	0.919	T	0.19063	-1.0317	10	0.72032	D	0.01	.	11.8883	0.52615	0.0:0.8238:0.1762:0.0	.	108	P21815	SIAL_HUMAN	Y	108	ENSP00000226284:S108Y	ENSP00000226284:S108Y	S	+	2	0	IBSP	88950858	0.124000	0.22315	0.061000	0.19648	0.132000	0.20833	1.984000	0.40658	1.274000	0.44362	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	1	0	1	104	476	0	101	0	1.516119e-01	0	4	0	101	2		0	0	0	0	0	2	1	1	101	468	0	101	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IBSP	3381	broad.mit.edu	37	4	88732530	88732530	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88732530A>T	ENST00000226284.5	+	7	489	c.422A>T	c.(421-423)aAt>aTt	p.N141I		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein			21		Hepatocellular(203;0.114)			GATATAACAAATAAAGCTACA	0.378000																								0							SO:0001583	missense			ENST00000226284.5	1	1	hg19	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	A	9.778	1.174606	0.21704	.	.	ENSG00000029559	ENST00000226284	T	0.11604	2.76	4.82	-0.215	0.13157	.	1.549700	0.03559	N	0.226805	T	0.13457	0.0326	L	0.43152	1.355	0.09310	N	1	P	0.40731	0.728	B	0.42959	0.403	T	0.34601	-0.9822	10	0.45353	T	0.12	.	7.9182	0.29831	0.6572:0.0:0.3428:0.0	.	141	P21815	SIAL_HUMAN	I	141	ENSP00000226284:N141I	ENSP00000226284:N141I	N	+	2	0	IBSP	88951554	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.062000	0.14389	0.017000	0.15025	-0.346000	0.07831	AAT		TCGA-IB-7651-01A-11D-2154-08	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	1	0	1	45	193	0	39	0	4.698714e-01	0	8	0	39	2		0	0	0	0	0	2	1	1	44	191	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAK	2580	broad.mit.edu	37	4	887739	887739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:887739G>A	ENST00000314167.4	-	8	910	c.800C>T	c.(799-801)gCg>gTg	p.A267V	GAK_ENST00000511163.1_Missense_Mutation_p.A188V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase			39					TCGAAGTTTCGCTCCATCCTC	0.612000																								0							SO:0001583	missense			ENST00000314167.4	1	1	hg19	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772525	0.96922	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.66280	-0.2;-0.2	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050221	0.85682	D	0.000000	T	0.69833	0.3155	L	0.28649	0.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;1.0	T	0.73711	-0.3897	10	0.72032	D	0.01	-19.8381	15.7059	0.77580	0.0:0.0:1.0:0.0	.	188;188;267;163	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	V	267;188	ENSP00000314499:A267V;ENSP00000421361:A188V	ENSP00000314499:A267V	A	-	2	0	GAK	877739	1.000000	0.71417	0.762000	0.31397	0.971000	0.66376	6.812000	0.75226	2.291000	0.77112	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	1	0	1	52	127	0	23	1	1	19	95	0	23	2		0	0	0	0	0	2	1	1	53	126	0	23	2								-20.000000	1	1	121244	1	26	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD2	5311	broad.mit.edu	37	4	88959637	88959637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88959637C>T	ENST00000237596.2	+	4	1144	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)			36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)			TCCCTTTGGGCCCCGAAATGG	0.453000																								0							SO:0001583	missense			ENST00000237596.2	1	1	hg19	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	C	7.583	0.669219	0.14776	.	.	ENSG00000118762	ENST00000237596	T	0.69435	-0.4	5.75	5.75	0.90469	Polycystin cation channel, PKD1/PKD2 (1);	0.163462	0.56097	D	0.000032	T	0.65439	0.2691	L	0.38838	1.175	0.80722	D	1	B	0.25772	0.134	B	0.36885	0.235	T	0.58880	-0.7558	10	0.30854	T	0.27	-8.2264	19.9598	0.97242	0.0:1.0:0.0:0.0	.	360	Q13563	PKD2_HUMAN	S	360	ENSP00000237596:P360S	ENSP00000237596:P360S	P	+	1	0	PKD2	89178661	0.929000	0.31497	0.277000	0.24703	0.970000	0.65996	5.836000	0.69375	2.716000	0.92895	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	1	0	1	72	333	0	71	1	9.999998e-01	5	101	0	71	2		0	0	0	0	0	2	1	1	71	324	0	71	2								-3.287214	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD2	5311	broad.mit.edu	37	4	88968016	88968016	+	Silent	SNP	C	C	T	rs145716012		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88968016C>T	ENST00000237596.2	+	6	1608	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)			36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)			ATGTTGTGATCGTTGTGGTAG	0.363000																								0							SO:0001819	synonymous_variant			ENST00000237596.2	1	1	hg19	CCDS3627.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	0	0	0	86	392	0	75	1	1	3	130	0	75	2		0	0	0	0	0	2	1	1	84	386	0	75	2								-2.812111	1	1	121410	4	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCG2	9429	broad.mit.edu	37	4	89015812	89015812	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89015812C>T	ENST00000237612.3	-	15	2283		c.e15-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)			42		Hepatocellular(203;0.114)		Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCTGCAAAGCCTATAACACAA	0.373000																								0							SO:0001630	splice_region_variant			ENST00000237612.3	1	1	hg19	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011891	0.75046	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5078	0.87750	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCG2	89234836	1.000000	0.71417	0.997000	0.53966	0.832000	0.47134	3.577000	0.53885	2.724000	0.93272	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	0	0	0	10	277	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	9.969118e-01	10	275	0	37	2								-11.066470	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.430000	0.220000	1.000000	0.410000	0.474102	0.430000	0	3.100000e-01	6.100000e-01
ABCG2	9429	broad.mit.edu	37	4	89016716	89016716	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89016716G>A	ENST00000237612.3	-	14	2238	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	ABCG2_ENST00000515655.1_Silent_p.G561G	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)			42		Hepatocellular(203;0.114)		Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	AGCCATGACAGCCAAGATGCA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000237612.3	1	1	hg19	CCDS3628.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	1	0	1	37	228	0	58	1	9.686303e-01	12	25	0	58	2		0	0	0	0	0	2	1	1	37	226	0	58	2								-17.893700	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999930	0.990000	1	9.900000e-01	1
ABCG2	9429	broad.mit.edu	37	4	89020601	89020601	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89020601C>A	ENST00000237612.3	-	12	1913		c.e12-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)			42		Hepatocellular(203;0.114)		Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GTATTCATGTCTATAGAACAA	0.383000																								0							SO:0001630	splice_region_variant			ENST00000237612.3	1	1	hg19	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126719	0.77549	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCG2	89239625	1.000000	0.71417	0.996000	0.52242	0.819000	0.46315	7.467000	0.80930	2.421000	0.82119	0.467000	0.42956	.		TCGA-IB-7651-01A-11D-2154-08	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	1	0	1	53	246	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	53	246	0	73	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCG2	9429	broad.mit.edu	37	4	89034473	89034473	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89034473G>A	ENST00000237612.3	-	9	1721	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	ABCG2_ENST00000515655.1_Silent_p.P392P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)			42		Hepatocellular(203;0.114)		Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TAGAGGCCTGGGGATTACCCA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000237612.3	1	1	hg19	CCDS3628.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	1	0	1	112	457	0	150	1	9.957198e-01	5	31	0	150	2		0	0	0	0	0	2	1	1	108	443	0	150	2								-2.655428	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC6	55008	broad.mit.edu	37	4	89311904	89311904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89311904G>T	ENST00000264346.7	+	4	596	c.537G>T	c.(535-537)gaG>gaT	p.E179D	HERC6_ENST00000273960.3_Missense_Mutation_p.E179D|HERC6_ENST00000380265.5_Missense_Mutation_p.E179D	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6			11		Hepatocellular(203;0.114)			GGTCCCTGGAGGGGATCCCAC	0.627000																								0							SO:0001583	missense			ENST00000264346.7	0	1	hg19	CCDS47098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.574|8.574	0.880806|0.880806	0.17467|0.17467	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346|ENST00000502870	D;D;D|.	0.85484|.	-1.99;-1.99;-1.99|.	4.62|4.62	-1.65|-1.65	0.08291|0.08291	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.516982|.	0.18680|.	N|.	0.134194|.	T|T	0.15998|0.15998	0.0385|0.0385	N|N	0.16478|0.16478	0.41|0.41	0.26412|0.26412	N|N	0.976246|0.976246	B;B|.	0.15719|.	0.014;0.003|.	B;B|.	0.19946|.	0.027;0.015|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.13108|.	T|.	0.6|.	.|.	0.4484|0.4484	0.00497|0.00497	0.3259:0.1176:0.2342:0.3223|0.3259:0.1176:0.2342:0.3223	.|.	179;179|.	Q8IVU3-2;Q8IVU3|.	.;HERC6_HUMAN|.	D|M	179|144	ENSP00000369617:E179D;ENSP00000273960:E179D;ENSP00000264346:E179D|.	ENSP00000264346:E179D|.	E|R	+|+	3|2	2|0	HERC6|HERC6	89530927|89530927	0.536000|0.536000	0.26378|0.26378	0.994000|0.994000	0.49952|0.49952	0.955000|0.955000	0.61496|0.61496	0.131000|0.131000	0.15870|0.15870	-0.175000|-0.175000	0.10725|0.10725	0.447000|0.447000	0.29281|0.29281	GAG|AGG		TCGA-IB-7651-01A-11D-2154-08	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2	0	0	0	8	258	0	49	1	9.113602e-01	6	135	0	49	2		0	0	0	0	0	2	1	9.884824e-01	8	252	0	49	2								-3.547101	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.380000	0.170000	1.000000	0.350000	0.424387	0.380000	0	2.600000e-01	5.500000e-01
HERC6	55008	broad.mit.edu	37	4	89317258	89317258	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89317258G>T	ENST00000264346.7	+	6	910	c.851G>T	c.(850-852)aGa>aTa	p.R284I	HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000380265.5_Missense_Mutation_p.R284I	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6			11		Hepatocellular(203;0.114)			CTTGTGGAAAGAATTGATGGC	0.428000																								0							SO:0001583	missense			ENST00000264346.7	1	1	hg19	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475392	0.43942	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;T;D	0.84146	-1.81;-1.32;-1.81	4.29	2.4	0.29515	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.443550	0.04262	N	0.340499	T	0.75398	0.3844	N	0.17723	0.515	0.09310	N	1	P;B	0.44090	0.826;0.0	B;B	0.40506	0.331;0.002	T	0.67213	-0.5727	10	0.34782	T	0.22	.	5.7191	0.17976	0.1896:0.1643:0.6461:0.0	.	284;284	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	I	284	ENSP00000369617:R284I;ENSP00000273960:R284I;ENSP00000264346:R284I	ENSP00000264346:R284I	R	+	2	0	HERC6	89536281	0.010000	0.17322	0.471000	0.27229	0.853000	0.48598	1.106000	0.31098	1.162000	0.42619	-0.339000	0.08088	AGA		TCGA-IB-7651-01A-11D-2154-08	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2	1	0	1	47	230	0	50	1	1	86	149	0	50	2		0	0	0	0	0	2	1	1	47	226	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC5	51191	broad.mit.edu	37	4	89389501	89389501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89389501C>T	ENST00000264350.3	+	8	1215	c.1062C>T	c.(1060-1062)agC>agT	p.S354S	HERC5_ENST00000508159.1_5'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	p.S354S(1)		53		Hepatocellular(203;0.114)			TTTCAGAAAGCCATACCTCAG	0.343000													Esophageal Squamous(39;887 1012 34045 50514)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000264350.3	1	1	hg19	CCDS3630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	0	0	0	9	365	0	61	1	7.202257e-01	4	98	0	61	2		0	0	0	0	0	2	1	9.940688e-01	9	361	0	61	2								-3.304138	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.300000	0.140000	1.000000	0.280000	0.349218	0.300000	0	2.100000e-01	4.300000e-01
HERC5	51191	broad.mit.edu	37	4	89425454	89425454	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89425454G>A	ENST00000264350.3	+	21	2807	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q	HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5			53		Hepatocellular(203;0.114)			GAAGAATTTCGGAGAGGATTT	0.323000													Esophageal Squamous(39;887 1012 34045 50514)											0							SO:0001583	missense			ENST00000264350.3	1	1	hg19	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217624	0.06101	2.27E-4	0.0	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.49139	0.79;0.79	4.62	3.45	0.39498	HECT (4);	0.316302	0.21246	N	0.077721	T	0.17831	0.0428	N	0.03071	-0.42	0.22581	N	0.998963	B	0.13594	0.008	B	0.14023	0.01	T	0.29822	-0.9999	10	0.02654	T	1	.	7.6934	0.28581	0.896:0.0:0.104:0.0	.	885	Q9UII4	HERC5_HUMAN	Q	885;523	ENSP00000264350:R885Q;ENSP00000424129:R523Q	ENSP00000264350:R885Q	R	+	2	0	HERC5	89644477	0.988000	0.35896	1.000000	0.80357	0.745000	0.42441	4.021000	0.57196	0.819000	0.34492	-0.302000	0.09304	CGG		TCGA-IB-7651-01A-11D-2154-08	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	1	0	1	90	403	0	72	1	1	16	134	0	72	2		0	0	0	0	0	2	1	1	87	394	0	71	2								-2.725963	1	1	121404	3	40	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HERC5	51191	broad.mit.edu	37	4	89426989	89426989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89426989C>T	ENST00000264350.3	+	23	3188	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	HERC5_ENST00000508159.1_Missense_Mutation_p.A650V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5			53		Hepatocellular(203;0.114)			GTTGAAGAAGCGCTTCAAGAA	0.413000													Esophageal Squamous(39;887 1012 34045 50514)											0							SO:0001583	missense			ENST00000264350.3	0	1	hg19	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651724	0.67472	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.42513	0.97;0.97	4.33	4.33	0.51752	HECT (4);	0.181776	0.26808	N	0.022399	T	0.54727	0.1876	L	0.58302	1.8	0.24828	N	0.992545	D	0.61080	0.989	D	0.65323	0.934	T	0.45833	-0.9234	10	0.56958	D	0.05	.	9.5764	0.39461	0.2091:0.7909:0.0:0.0	.	1012	Q9UII4	HERC5_HUMAN	V	1012;650	ENSP00000264350:A1012V;ENSP00000424129:A650V	ENSP00000264350:A1012V	A	+	2	0	HERC5	89646012	0.978000	0.34361	0.955000	0.39395	0.921000	0.55340	2.480000	0.45206	2.240000	0.73641	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	0	0	0	5	127	0	24	1	9.074547e-01	5	107	0	24	2		0	0	0	0	0	2	1	9.349467e-01	5	124	0	24	2								-3.596791	1	1	121412	1	35	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.490000	0.180000	1.000000	1.000000	0.536125	0.490000	0	3.100000e-01	7.700000e-01
HERC3	8916	broad.mit.edu	37	4	89571092	89571092	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89571092G>A	ENST00000402738.1	+	4	567	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HERC3_ENST00000407637.1_Missense_Mutation_p.A110T|HERC3_ENST00000264345.3_Missense_Mutation_p.A110T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3			45					TTCTTGGGGTGCAGGGAGTGA	0.498000																								0							SO:0001583	missense			ENST00000402738.1	1	1	hg19	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770586	0.49680	.	.	ENSG00000138641	ENST00000402738;ENST00000431413;ENST00000407637;ENST00000426683;ENST00000452979;ENST00000264345	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.32	5.32	0.75619	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.054047	0.64402	D	0.000001	D	0.86952	0.6057	L	0.41492	1.28	0.80722	D	1	B;D	0.67145	0.372;0.996	B;P	0.61070	0.216;0.883	D	0.85247	0.1042	9	.	.	.	.	14.0809	0.64922	0.0:0.0:0.8496:0.1504	.	110;110	Q15034;Q8IXX3	HERC3_HUMAN;.	T	110	ENSP00000385684:A110T;ENSP00000405863:A110T;ENSP00000384005:A110T;ENSP00000389991:A110T;ENSP00000406210:A110T;ENSP00000264345:A110T	.	A	+	1	0	HERC3	89790115	0.937000	0.31787	1.000000	0.80357	0.997000	0.91878	2.734000	0.47368	2.772000	0.95346	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	1	0	1	102	438	0	89	1	9.999945e-01	14	62	0	89	2		0	0	0	0	0	2	1	1	100	431	0	89	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM13A	10144	broad.mit.edu	37	4	89708990	89708990	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89708990T>C	ENST00000264344.5	-	10	1392	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000395002.2_Silent_p.G69G|FAM13A_ENST00000513837.1_Silent_p.G41G	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A			55					CTGATAGTGTTCCAGATTCTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000264344.5	1	1	hg19	CCDS34029.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1	1	0	1	79	325	0	52	1	9.971565e-01	12	27	0	52	2		0	0	0	0	0	2	1	1	78	318	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIGD2	166815	broad.mit.edu	37	4	90034783	90034783	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90034783T>G	ENST00000317005.2	+	1	816	c.658T>G	c.(658-660)Tta>Gta	p.L220V	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2			14		Hepatocellular(203;0.114)			TGCCACAGGTTTACACAAACT	0.423000																								0							SO:0001583	missense			ENST00000317005.2	1	1	hg19	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	t	8.260	0.811071	0.16537	.	.	ENSG00000180346	ENST00000317005	T	0.42513	0.97	3.97	2.79	0.32731	.	0.546237	0.13764	U	0.364393	T	0.28632	0.0709	L	0.27053	0.805	0.19575	N	0.999963	B	0.31655	0.334	B	0.37780	0.258	T	0.21280	-1.0250	10	0.30078	T	0.28	-0.4011	3.2543	0.06826	0.2038:0.1127:0.0:0.6836	.	220	Q4W5G0	TIGD2_HUMAN	V	220	ENSP00000317170:L220V	ENSP00000317170:L220V	L	+	1	2	TIGD2	90253806	0.983000	0.35010	0.997000	0.53966	0.983000	0.72400	0.723000	0.25939	0.602000	0.29896	0.446000	0.29264	TTA		TCGA-IB-7651-01A-11D-2154-08	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	0	0	1	63	305	0	82	1	9.485267e-01	11	15	0	82	2		0	0	0	0	0	2	1	1	63	299	0	82	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRIN3	285513	broad.mit.edu	37	4	90169956	90169956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169956C>T	ENST00000609438.1	-	2	1824	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.E436K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3			36		Hepatocellular(203;0.114)			CTCCCATCTTCTTTACACGTA	0.468000																								0							SO:0001583	missense			ENST00000609438.1	1	1	hg19	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613589	0.28712	.	.	ENSG00000185477	ENST00000333209	T	0.10860	2.83	4.82	2.05	0.26809	.	0.481105	0.15476	N	0.260322	T	0.07818	0.0196	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.19946	0.027	T	0.41770	-0.9490	10	0.17369	T	0.5	-8.3944	8.4706	0.32982	0.0:0.6282:0.2928:0.0789	.	436	Q6ZVF9	GRIN3_HUMAN	K	436	ENSP00000328672:E436K	ENSP00000328672:E436K	E	-	1	0	GPRIN3	90388979	0.000000	0.05858	0.003000	0.11579	0.212000	0.24457	0.180000	0.16860	0.211000	0.20683	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	1	0	1	90	446	0	112	0	8.513466e-01	0	19	0	112	2		0	0	0	0	0	2	1	1	89	434	0	110	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRIN3	285513	broad.mit.edu	37	4	90170801	90170801	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90170801G>A	ENST00000609438.1	-	2	979	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S154F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3			36		Hepatocellular(203;0.114)			TCTCATCAGGGAATCTTCAGG	0.512000																								0							SO:0001583	missense			ENST00000609438.1	1	1	hg19	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115217	0.37339	.	.	ENSG00000185477	ENST00000333209	T	0.14144	2.53	4.98	3.27	0.37495	.	1.263240	0.06064	N	0.658931	T	0.12347	0.0300	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.34204	-0.9838	10	0.72032	D	0.01	0.6284	10.0464	0.42188	0.1562:0.0:0.8438:0.0	.	154	Q6ZVF9	GRIN3_HUMAN	F	154	ENSP00000328672:S154F	ENSP00000328672:S154F	S	-	2	0	GPRIN3	90389824	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.839000	0.27586	0.815000	0.34398	-0.145000	0.13849	TCC		TCGA-IB-7651-01A-11D-2154-08	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	1	0	1	119	516	0	121	0	9.234136e-01	1	20	0	121	2		0	0	0	0	0	2	1	1	119	506	0	121	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMRN1	22915	broad.mit.edu	37	4	90856522	90856522	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90856522T>C	ENST00000394980.1	+	7	2010	c.1691T>C	c.(1690-1692)tTt>tCt	p.F564S	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S|MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S			Q13201	MMRN1_HUMAN	multimerin 1			72		Hepatocellular(203;0.114)			CTGCAAATGTTTGAAGATTTG	0.383000																								0							SO:0001583	missense			ENST00000394980.1	1	1	hg19	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	2.832	-0.242392	0.05906	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68765	-0.02;-0.02;-0.35	5.12	-1.87	0.07737	.	0.556954	0.18268	N	0.146411	T	0.44726	0.1307	L	0.31294	0.92	0.09310	N	0.999999	B	0.14805	0.011	B	0.08055	0.003	T	0.17684	-1.0361	10	0.33940	T	0.23	.	4.6722	0.12694	0.2727:0.3577:0.0:0.3696	.	564	Q13201	MMRN1_HUMAN	S	564;564;306	ENSP00000378431:F564S;ENSP00000264790:F564S;ENSP00000426461:F306S	ENSP00000264790:F564S	F	+	2	0	MMRN1	91075545	0.229000	0.23729	0.001000	0.08648	0.052000	0.14988	0.727000	0.25999	-0.075000	0.12798	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	1	0	1	70	290	0	72	0	4.119414e-01	0	7	0	72	2		0	0	0	0	0	2	1	1	69	288	0	72	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMRN1	22915	broad.mit.edu	37	4	90872841	90872841	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90872841A>G	ENST00000394980.1	+	8	3523	c.3204A>G	c.(3202-3204)agA>agG	p.R1068R	MMRN1_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000264790.2_Silent_p.R1068R|MMRN1_ENST00000508372.1_Silent_p.R810R			Q13201	MMRN1_HUMAN	multimerin 1			72		Hepatocellular(203;0.114)			GTGCCTGCAGACATCCTTTTA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000394980.1	1	1	hg19	CCDS3635.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	1	0	1	58	276	0	68	0	6.449603e-01	0	12	0	68	2		0	0	0	0	0	2	1	1	58	269	0	67	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMRN1	22915	broad.mit.edu	37	4	90874186	90874186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90874186G>A	ENST00000394980.1	+	9	3623	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T|MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T			Q13201	MMRN1_HUMAN	multimerin 1			72		Hepatocellular(203;0.114)			ACCCATGGTGGCATTTTTTGC	0.348000																								0							SO:0001583	missense			ENST00000394980.1	1	1	hg19	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347667	0.82022	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.73	4.73	0.59995	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.178274	0.39083	N	0.001472	D	0.91895	0.7434	M	0.73598	2.24	0.34893	D	0.745759	D;D	0.89917	0.996;1.0	D;D	0.91635	0.974;0.999	D	0.94910	0.8064	10	0.72032	D	0.01	.	16.7536	0.85493	0.0:0.0:1.0:0.0	.	405;1102	Q13201-2;Q13201	.;MMRN1_HUMAN	T	1102;1102;405;844	ENSP00000378431:A1102T;ENSP00000264790:A1102T;ENSP00000378432:A405T;ENSP00000426461:A844T	ENSP00000264790:A1102T	A	+	1	0	MMRN1	91093209	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.628000	0.61282	2.569000	0.86673	0.484000	0.47621	GCA		TCGA-IB-7651-01A-11D-2154-08	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	1	0	1	98	460	0	87	0	6.010386e-01	0	11	0	87	2		0	0	0	0	0	2	1	1	98	453	0	87	2								-3.354139	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRID2	2895	broad.mit.edu	37	4	94006190	94006190	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94006190A>G	ENST00000282020.4	+	3	547	c.289A>G	c.(289-291)Att>Gtt	p.I97V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2			100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)			GGTCAGCTCCATTGGCTGCAC	0.512000																								0							SO:0001583	missense			ENST00000282020.4	1	1	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258560	0.59321	.	.	ENSG00000152208	ENST00000282020	D	0.81499	-1.5	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.167972	0.50627	D	0.000117	T	0.77294	0.4109	L	0.34521	1.04	0.80722	D	1	P;P	0.46327	0.589;0.876	B;P	0.47376	0.216;0.545	T	0.77083	-0.2719	10	0.36615	T	0.2	.	15.2094	0.73206	1.0:0.0:0.0:0.0	.	97;38	O43424;B4DYB9	GRID2_HUMAN;.	V	97	ENSP00000282020:I97V	ENSP00000282020:I97V	I	+	1	0	GRID2	94225213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.064000	0.61679	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	0	0	0	12	305	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	9.990761e-01	12	300	0	73	2								-13.077420	1	1	121412	1	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.460000	0.250000	1.000000	0.440000	0.504370	0.460000	0	3.400000e-01	6.400000e-01
GRID2	2895	broad.mit.edu	37	4	94344105	94344105	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94344105G>A	ENST00000282020.4	+	10	1789	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2			100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)			CTTGGTAGGAGAACTTGTCTT	0.368000																								0							SO:0001583	missense			ENST00000282020.4	1	1	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286897	0.95517	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27256	1.68;1.68	5.55	5.55	0.83447	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.87578	0.994;0.998	T	0.53373	-0.8448	10	0.87932	D	0	.	19.4969	0.95077	0.0:0.0:1.0:0.0	.	416;511	E9PH24;O43424	.;GRID2_HUMAN	K	511;416	ENSP00000282020:E511K;ENSP00000421257:E416K	ENSP00000282020:E511K	E	+	1	0	GRID2	94563128	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	9.864000	0.99589	2.611000	0.88343	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	1	0	1	51	205	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1	49	199	0	50	2								-3.533867	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM175	84286	broad.mit.edu	37	4	944245	944245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:944245C>T	ENST00000264771.4	+	4	414	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175			14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		TCTGGCAACACGGATTGCCGT	0.577000																								0							SO:0001583	missense			ENST00000264771.4	1	1	hg19	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381533	0.42207	.	.	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000514546	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.9	3.72	0.42706	.	0.133487	0.48767	D	0.000179	T	0.47488	0.1448	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.45381	-0.9265	10	0.87932	D	0	-9.1519	8.6409	0.33976	0.7942:0.2058:0.0:0.0	.	77	Q9BSA9	TM175_HUMAN	W	76;77;64;77	ENSP00000424746:R76W;ENSP00000264771:R77W;ENSP00000425181:R64W;ENSP00000425763:R77W	ENSP00000264771:R77W	R	+	1	2	TMEM175	934245	1.000000	0.71417	0.411000	0.26484	0.002000	0.02628	6.164000	0.71885	0.740000	0.32651	-0.424000	0.05967	CGG		TCGA-IB-7651-01A-11D-2154-08	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	1	0	1	101	424	0	104	1	9.995695e-01	8	42	0	104	2		0	0	0	0	0	2	1	1	98	414	0	103	2								-3.151536	1	1	121412	3	37	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRID2	2895	broad.mit.edu	37	4	94547517	94547517	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94547517C>A	ENST00000282020.4	+	14	2549	c.2291C>A	c.(2290-2292)aCt>aAt	p.T764N	GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2			100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)			ATTGGAAATACTGTTGCTGAT	0.393000																								0							SO:0001583	missense			ENST00000282020.4	1	1	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803975	0.31869	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11385	2.78;2.78	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.088108	0.85682	D	0.000000	T	0.06645	0.0170	N	0.03154	-0.405	0.42195	D	0.991745	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40608	-0.9554	10	0.38643	T	0.18	.	18.9243	0.92538	0.0:1.0:0.0:0.0	.	669;764	E9PH24;O43424	.;GRID2_HUMAN	N	764;669	ENSP00000282020:T764N;ENSP00000421257:T669N	ENSP00000282020:T764N	T	+	2	0	GRID2	94766540	0.991000	0.36638	0.539000	0.28077	0.966000	0.64601	2.961000	0.49168	2.542000	0.85734	0.484000	0.47621	ACT		TCGA-IB-7651-01A-11D-2154-08	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	1	0	1	106	413	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	102	407	0	99	2								-20.000000	1	1	121412	1	33	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM175	84286	broad.mit.edu	37	4	947071	947071	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:947071C>A	ENST00000264771.4	+	8	741	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175			14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		ACGACACGTCCTGGGCATCGT	0.647000																								0							SO:0001583	missense			ENST00000264771.4	1	1	hg19	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.323824	0.41096	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.56275	1.16;0.47;0.79;0.54	4.93	3.94	0.45596	.	0.000000	0.64402	D	0.000010	T	0.63010	0.2475	M	0.65498	2.005	0.42111	D	0.991389	D;D;D	0.76494	0.991;0.983;0.999	P;P;D	0.67231	0.863;0.863;0.95	T	0.64791	-0.6324	10	0.52906	T	0.07	-0.6814	5.3876	0.16226	0.0:0.8163:0.0:0.1837	.	104;186;104	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	M	186;173;104;104;92;70;104;104	ENSP00000264771:L186M;ENSP00000425181:L173M;ENSP00000427039:L70M;ENSP00000423669:L104M	ENSP00000264771:L186M	L	+	1	2	TMEM175	937071	1.000000	0.71417	0.664000	0.29753	0.013000	0.08279	1.546000	0.36179	2.273000	0.75805	0.574000	0.79327	CTG		TCGA-IB-7651-01A-11D-2154-08	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	1	0	1	56	222	0	42	1	9.999994e-01	21	67	0	42	2		0	0	0	0	0	2	1	1	56	221	0	41	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATOH1	474	broad.mit.edu	37	4	94750764	94750764	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94750764C>T	ENST00000306011.3	+	1	723	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)			11		Hepatocellular(203;0.114)			CGCCTCCAGCCTCCTGCAAAA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000306011.3	1	1	hg19	CCDS3638.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	1	0	1	85	321	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	84	309	0	49	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCAD1	56916	broad.mit.edu	37	4	95174129	95174129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95174129C>T	ENST00000354268.4	+	9	1325	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	SMARCAD1_ENST00000509418.1_5'Flank|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1			44					GATAACAGAACTCCGGCCCTT	0.383000																								0							SO:0001583	missense			ENST00000354268.4	1	1	hg19	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310151	0.60414	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.89196	-2.48;-2.48;-2.47	5.49	5.49	0.81192	.	0.000000	0.44688	D	0.000424	D	0.92071	0.7487	M	0.69823	2.125	0.80722	D	1	P;D	0.55800	0.954;0.973	P;P	0.59889	0.668;0.865	D	0.89337	0.3651	10	0.14656	T	0.56	-7.8768	15.7026	0.77552	0.0:0.8632:0.1368:0.0	.	418;418	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	F	418	ENSP00000351947:L418F;ENSP00000415576:L418F;ENSP00000346217:L418F	ENSP00000346217:L418F	L	+	1	0	SMARCAD1	95393152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.814000	0.55643	2.582000	0.87167	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	1	0	1	130	588	0	113	1	9.999881e-01	3	71	0	113	2		0	0	0	0	0	2	1	1	127	567	0	112	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCAD1	56916	broad.mit.edu	37	4	95204434	95204434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95204434C>A	ENST00000354268.4	+	22	2962	c.2889C>A	c.(2887-2889)tgC>tgA	p.C963*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.C533*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1			44					AAGATAGATGCCATAGAGTAG	0.338000																								0							SO:0001587	stop_gained			ENST00000354268.4	0	1	hg19	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	40	8.211293	0.98706	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.48	3.72	0.42706	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5904	8.1683	0.31239	0.0:0.7039:0.0:0.2961	.	.	.	.	X	965;965;963;533	.	ENSP00000346217:C963X	C	+	3	2	SMARCAD1	95423457	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.457000	0.21875	1.289000	0.44618	0.591000	0.81541	TGC		TCGA-IB-7651-01A-11D-2154-08	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	0	0	1	35	215	1	57	0	9.298169e-01	5	76	1	57	7		0	0	0	0	0	2	1	9.990227e-01	35	211	1	56	15								-17.228070	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999908	0.990000	1	9.900000e-01	1
TMEM175	84286	broad.mit.edu	37	4	952124	952124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:952124A>G	ENST00000264771.4	+	11	1540	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R|TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175			14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		CACCTCATGCAGATCGCCGTG	0.697000																								0							SO:0001583	missense			ENST00000264771.4	1	1	hg19	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292900	0.40594	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.48522	1.43;1.4;0.81	5.05	5.05	0.67936	.	0.069000	0.64402	D	0.000013	T	0.49115	0.1538	M	0.66939	2.045	0.35427	D	0.793693	P;D	0.53151	0.919;0.958	B;P	0.47528	0.395;0.549	T	0.58618	-0.7605	10	0.17832	T	0.49	-4.8199	11.1651	0.48539	1.0:0.0:0.0:0.0	.	370;452	D3DVN5;Q9BSA9	.;TM175_HUMAN	R	452;336;370	ENSP00000264771:Q452R;ENSP00000427039:Q336R;ENSP00000423669:Q370R	ENSP00000264771:Q452R	Q	+	2	0	TMEM175	942124	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	6.677000	0.74503	1.897000	0.54924	0.402000	0.26972	CAG		TCGA-IB-7651-01A-11D-2154-08	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	1	0	1	58	268	0	43	1	9.983091e-01	11	36	0	43	2		0	0	0	0	0	2	1	1	57	264	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HPGDS	27306	broad.mit.edu	37	4	95220672	95220672	+	Missense_Mutation	SNP	C	C	T	rs76328980	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95220672C>T	ENST00000295256.5	-	6	649	c.559G>A	c.(559-561)Gtc>Atc	p.V187I		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase			7				Glutathione(DB00143)	CAGTTAGCGACGGCAGGAATG	0.468000													Colon(86;1802 1843 17863 46794)											0							SO:0001583	missense			ENST00000295256.5	1	0	hg19	CCDS3640.1	30	0.013736263736263736	23	0.046747967479674794	5	0.013812154696132596	0	0.0	2	0.002638522427440633	T	4.640	0.118989	0.08881	0.046074	0.005465	ENSG00000163106	ENST00000295256	T	0.01527	4.8	5.73	5.73	0.89815	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	N	0.000002	T	0.00144	0.0004	N	0.00427	-1.505	0.20074	N	0.999931	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	10	0.02654	T	1	.	11.1331	0.48358	0.0:0.072:0.0:0.928	.	187	O60760	HPGDS_HUMAN	I	187	ENSP00000295256:V187I	ENSP00000295256:V187I	V	-	1	0	HPGDS	95439695	1.000000	0.71417	0.953000	0.39169	0.460000	0.32559	3.540000	0.53611	1.005000	0.39183	-0.254000	0.11334	GTC		TCGA-IB-7651-01A-11D-2154-08	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	0	0	1	68	310	0	64	0	9.976369e-01	0	44	0	64	2		0	0	0	0	0	2	1	1	65	303	0	63	2								-2.551633	1	1	121412	1013	63	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGKQ	1609	broad.mit.edu	37	4	956377	956377	+	Missense_Mutation	SNP	C	C	T	rs140567391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:956377C>T	ENST00000273814.3	-	18	2133	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa			9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		CGCCCCCCAGCGGAGGACTCG	0.652000													Esophageal Squamous(17;537 645 4447 26373)											0							SO:0001583	missense			ENST00000273814.3	1	1	hg19	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.519485|5.519485	0.96416|0.96416	2.27E-4|2.27E-4	0.0|0.0	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.42131	.|0.98	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Diacylglycerol kinase, catalytic domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62183|0.62183	0.2407|0.2407	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.65105|0.65105	-0.6249|-0.6249	5|10	.|0.66056	.|D	.|0.02	.|.	15.9132|15.9132	0.79488|0.79488	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|687;687	.|E9KL49;P52824	.|.;DGKQ_HUMAN	T|H	621|687	.|ENSP00000273814:R687H	.|ENSP00000273814:R687H	A|R	-|-	1|2	0|0	DGKQ|DGKQ	946377|946377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.367000|7.367000	0.79558|0.79558	2.395000|2.395000	0.81488|0.81488	0.655000|0.655000	0.94253|0.94253	GCT|CGC		TCGA-IB-7651-01A-11D-2154-08	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1	1	0	1	45	208	0	40	1	9.952357e-01	8	33	0	40	2		0	0	0	0	0	2	1	1	44	207	0	39	2								-20.000000	1	1	121172	2	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5C	8633	broad.mit.edu	37	4	96104083	96104083	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96104083C>T	ENST00000453304.1	-	14	2764	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)			55		Hepatocellular(203;0.114)			AAGATCTGCCCTTCTCCTTCC	0.522000																								0							SO:0001583	missense			ENST00000453304.1	1	1	hg19	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156487	0.94686	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.50548	0.74	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56547	-0.7961	10	0.25106	T	0.35	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	806	O95185	UNC5C_HUMAN	R	806;765	ENSP00000406022:G806R	ENSP00000328673:G765R	G	-	1	0	UNC5C	96323106	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.792000	0.85828	2.770000	0.95276	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	0	0	1	97	378	1	106	0	1.098877e-01	0	3	1	106	2		0	0	0	0	0	2	1	1	97	370	0	102	2								-3.248407	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5C	8633	broad.mit.edu	37	4	96106260	96106260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96106260G>A	ENST00000453304.1	-	13	2572	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)			55		Hepatocellular(203;0.114)			ATTGACAGGCGCAGGTTGTGG	0.458000																								0							SO:0001583	missense			ENST00000453304.1	1	1	hg19	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132411	0.77662	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.48522	0.81	5.87	5.87	0.94306	.	0.104565	0.64402	D	0.000005	T	0.62624	0.2443	L	0.39467	1.215	0.80722	D	1	P;D	0.89917	0.548;1.0	B;D	0.85130	0.036;0.997	T	0.55224	-0.8174	10	0.33141	T	0.24	.	20.2788	0.98501	0.0:0.0:1.0:0.0	.	742;742	A8K385;O95185	.;UNC5C_HUMAN	C	742;701	ENSP00000406022:R742C	ENSP00000328673:R701C	R	-	1	0	UNC5C	96325283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.024000	0.64090	2.788000	0.95919	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	1	136	531	0	132	0	4.205352e-02	0	2	0	132	2		0	0	0	0	0	2	1	1	133	519	0	131	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5C	8633	broad.mit.edu	37	4	96140199	96140199	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96140199T>C	ENST00000453304.1	-	9	1914	c.1566A>G	c.(1564-1566)ctA>ctG	p.L522L	UNC5C_ENST00000506749.1_Silent_p.L541L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)			55		Hepatocellular(203;0.114)			TCTGCCTTGCTAGACTCTGGT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000453304.1	1	1	hg19	CCDS3643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	1	83	359	0	93	0	3.613726e-02	0	2	0	93	2		0	0	0	0	0	2	1	1	81	352	0	93	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5C	8633	broad.mit.edu	37	4	96163599	96163599	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163599A>C	ENST00000453304.1	-	7	1437	c.1089T>G	c.(1087-1089)acT>acG	p.T363T	UNC5C_ENST00000506749.1_Silent_p.T363T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)			55		Hepatocellular(203;0.114)			AAAGCCCATCAGTGCAGTTCT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000453304.1	1	1	hg19	CCDS3643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	1	48	155	0	36	0	1.454595e-01	0	3	0	36	2		0	0	0	0	0	2	1	1	48	154	0	36	2								-20.000000	1	0	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5C	8633	broad.mit.edu	37	4	96163662	96163662	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163662C>T	ENST00000453304.1	-	7	1374	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	UNC5C_ENST00000506749.1_Silent_p.A342A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)			55		Hepatocellular(203;0.114)			TGGGGGCTGGCGCCGTGCACT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000453304.1	1	1	hg19	CCDS3643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	1	20	101	0	20	0	2.980645e-02	0	2	0	20	2		0	0	0	0	0	2	1	9.999972e-01	20	100	0	20	2								-20.000000	1	0	121412	1	30	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999789	0.990000	1	9.900000e-01	1
UNC5C	8633	broad.mit.edu	37	4	96163682	96163682	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163682G>A	ENST00000453304.1	-	7	1354	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	UNC5C_ENST00000506749.1_Missense_Mutation_p.R336C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)			55		Hepatocellular(203;0.114)			TCCCTCCTGCGCCAGTGGGTG	0.587000																								0							SO:0001583	missense			ENST00000453304.1	0	1	hg19	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345295	0.82022	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.78924	-1.22;-1.22;-1.22	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.99475	4.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.96276	0.9202	10	0.87932	D	0	.	19.0716	0.93140	0.0:0.0:1.0:0.0	.	336;336;336	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	C	336;295;336;336	ENSP00000406022:R336C;ENSP00000426924:R336C;ENSP00000426153:R336C	ENSP00000328673:R295C	R	-	1	0	UNC5C	96382705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.750000	0.68712	2.805000	0.96524	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	1	0	1	13	83	0	21	0	1.020702e-01	0	4	0	21	2		0	0	0	0	0	2	1	9.996360e-01	13	83	0	21	2								-19.986410	1	0	121404	1	25	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.900000	1.000000	1.000000	0.994418	0.990000	1	9.900000e-01	1
DGKQ	1609	broad.mit.edu	37	4	962266	962266	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:962266C>T	ENST00000273814.3	-	4	611		c.e4+1		DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa			9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		GGTACACTCACGTGATCCTGG	0.701000													Esophageal Squamous(17;537 645 4447 26373)											0							SO:0001630	splice_region_variant			ENST00000273814.3	1	1	hg19	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.047660	0.36085	.	.	ENSG00000145214	ENST00000273814;ENST00000509465;ENST00000510286	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7929	0.69857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKQ	952266	1.000000	0.71417	0.854000	0.33618	0.061000	0.15899	5.246000	0.65411	2.052000	0.61016	0.556000	0.70494	.		TCGA-IB-7651-01A-11D-2154-08	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1	1	0	0	14	46	0	19	0	0	1	0	0	19	2		0	0	0	0	0	2	1	9.998594e-01	14	45	0	19	2								-20.000000	1	1	120084	2	27	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999881	0.990000	1	9.900000e-01	1
PDHA2	5161	broad.mit.edu	37	4	96761415	96761415	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96761415A>G	ENST00000295266.4	+	1	177	c.114A>G	c.(112-114)aaA>aaG	p.K38K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2			46		Hepatocellular(203;0.114)			AAATTAAGAAATGTGATCTTT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000295266.4	1	1	hg19	CCDS3644.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1	1	0	1	38	181	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	36	179	0	39	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RAP1GDS1	5910	broad.mit.edu	37	4	99214651	99214651	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99214651G>T	ENST00000408927.3	+	2	210	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1			28					TCTGCTTCAAGCCCTGGCTCA	0.358000			T	NUP98	T-ALL										Dom	yes		4	4q21-q25	5910	RAP1, GTP-GDP dissociation stimulator 1		L	0							SO:0001583	missense			ENST00000408927.3	1	1	hg19	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052140	0.75960	.	.	ENSG00000138698	ENST00000509011;ENST00000380158;ENST00000264572;ENST00000508213;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T;T;T	0.52295	1.58;1.43;1.55;0.67;1.43;1.28;1.43;0.74;1.43;1.44	5.6	4.75	0.60458	Armadillo-like helical (1);	0.132185	0.48767	N	0.000170	T	0.59770	0.2218	L	0.56769	1.78	0.46874	D	0.999235	P;D;D;D;P;P;P	0.76494	0.869;0.996;0.994;0.999;0.822;0.824;0.822	P;D;D;D;P;B;P	0.78314	0.542;0.987;0.97;0.991;0.7;0.348;0.7	T	0.57705	-0.7765	10	0.07990	T	0.79	-0.798	13.7348	0.62811	0.0:0.0:0.8455:0.1544	.	34;33;34;33;34;34;33	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;.;GDS1_HUMAN;.;.;.	S	33;34;34;33;33;33;34;34;33;34	ENSP00000425992:A33S;ENSP00000369503:A34S;ENSP00000264572:A34S;ENSP00000426096:A33S;ENSP00000386153:A33S;ENSP00000424324:A33S;ENSP00000407157:A34S;ENSP00000421599:A34S;ENSP00000386223:A33S;ENSP00000340454:A34S	ENSP00000264572:A34S	A	+	1	0	RAP1GDS1	99433674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	1.328000	0.45358	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	1	0	1	27	117	0	31	1	9.999964e-01	17	76	0	31	2		0	0	0	0	0	2	1	1	27	115	0	33	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
SLC2A9	56606	broad.mit.edu	37	4	9922170	9922170	+	Missense_Mutation	SNP	C	C	T	rs73225891	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9922170C>T	ENST00000264784.3	-	7	894	c.841G>A	c.(841-843)Gac>Aac	p.D281N	SLC2A9_ENST00000309065.3_Missense_Mutation_p.D252N|SLC2A9_ENST00000506583.1_Missense_Mutation_p.D252N|RP13-560N11.1_ENST00000504249.1_RNA	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9			35				Losartan(DB00678)|Probenecid(DB01032)	TGGGAAACGTCTGCTTTACCC	0.577000																								0							SO:0001583	missense			ENST00000264784.3	1	0	hg19	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484875	0.44147	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.76060	-0.99;-0.99;-0.99	5.2	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050418	0.85682	D	0.000000	T	0.81978	0.4937	M	0.67625	2.065	0.43617	D	0.99599	P;P	0.41080	0.692;0.737	P;P	0.55303	0.517;0.773	T	0.80883	-0.1183	9	.	.	.	.	14.7733	0.69696	0.0:0.8548:0.1452:0.0	.	252;281	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	N	252;281;252	ENSP00000422209:D252N;ENSP00000264784:D281N;ENSP00000311383:D252N	.	D	-	1	0	SLC2A9	9531268	0.999000	0.42202	0.012000	0.15200	0.003000	0.03518	4.335000	0.59298	1.167000	0.42706	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1	1	0	1	35	190	0	55	1	8.730828e-01	2	20	0	55	2		0	0	0	0	0	2	1	1	35	185	0	55	2								-2.563878	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
IDUA	3425	broad.mit.edu	37	4	995495	995495	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:995495G>A	ENST00000247933.4	+	6	706	c.618G>A	c.(616-618)tcG>tcA	p.S206S	IDUA_ENST00000514224.1_Silent_p.S74S|IDUA_ENST00000453894.1_Silent_p.S159S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-			12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		ATGCCTGCTCGGAGGGTCTGC	0.716000																								0							SO:0001819	synonymous_variant			ENST00000247933.4	1	1	hg19	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	6.077	0.382540	0.11524	0.0	1.17E-4	ENSG00000127415	ENST00000504568	.	.	.	5.05	-9.97	0.00440	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-18.6917	2.4043	0.04409	0.1133:0.2242:0.3235:0.3391	.	.	.	.	Q	193	.	.	R	+	2	0	IDUA	985495	0.000000	0.05858	0.727000	0.30756	0.515000	0.34225	-3.415000	0.00479	-1.651000	0.01504	-2.577000	0.00169	CGG		TCGA-IB-7651-01A-11D-2154-08	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	1	0	1	28	89	0	16	1	8.161222e-01	3	9	0	16	2		0	0	0	0	0	2	1	8.820639e-01	28	87	1	13	21								-20.000000	1	1	120298	5	32	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF4E	1977	broad.mit.edu	37	4	99823032	99823032	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99823032C>T	ENST00000450253.2	-	2	1644	c.120G>A	c.(118-120)caG>caA	p.Q40Q	EIF4E_ENST00000280892.6_Silent_p.Q60Q|EIF4E_ENST00000504432.1_Silent_p.Q68Q|EIF4E_ENST00000505992.1_Silent_p.Q40Q|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E			13					CTTACCTGTTCTGTAGGGGAT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000450253.2	0	1	hg19	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	C	7.668	0.686326	0.14973	.	.	ENSG00000151247	ENST00000511644	.	.	.	5.85	4.15	0.48705	.	.	.	.	.	T	0.59756	0.2217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56044	-0.8044	4	.	.	.	-15.0647	9.6323	0.39787	0.0:0.7397:0.0:0.2603	.	.	.	.	K	37	.	.	E	-	1	0	EIF4E	100042055	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	0.518000	0.22847	0.948000	0.37687	0.643000	0.83706	GAA		TCGA-IB-7651-01A-11D-2154-08	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	0	0	0	11	679	0	125	1	7.875301e-01	5	176	0	125	2		0	0	0	0	0	2	1	9.981911e-01	11	668	0	125	2								-2.479700	0	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.190000	0.100000	1.000000	0.190000	0.248215	0.190000	0	1.400000e-01	2.800000e-01
METAP1	23173	broad.mit.edu	37	4	99969935	99969935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99969935C>T	ENST00000296411.6	+	9	973	c.839C>T	c.(838-840)gCc>gTc	p.A280V	METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1			17					CAGAAGCATGCCCAAGCAAAT	0.398000																								0							SO:0001583	missense			ENST00000296411.6	1	1	hg19	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676809	0.67928	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133	T;T;T	0.77750	-1.12;-1.12;-1.12	4.4	4.4	0.53042	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	L	0.46567	1.45	0.80722	D	1	P	0.51653	0.947	P	0.55824	0.785	T	0.80301	-0.1440	9	.	.	.	-12.0974	17.5417	0.87850	0.0:1.0:0.0:0.0	.	280	P53582	AMPM1_HUMAN	V	280;230;64	ENSP00000296411:A280V;ENSP00000440993:A230V;ENSP00000423071:A64V	.	A	+	2	0	METAP1	100188958	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.440000	0.82611	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	1	0	1	110	388	0	104	1	1	40	146	0	104	2		0	0	0	0	0	2	1	1	106	379	0	104	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC2A9	56606	broad.mit.edu	37	4	9998463	9998463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9998463C>T	ENST00000264784.3	-	3	405	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T|SLC2A9_ENST00000506583.1_Missense_Mutation_p.A89T	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9			35				Losartan(DB00678)|Probenecid(DB01032)	CCACCGATGGCGAATATGGAC	0.498000																								0							SO:0001583	missense			ENST00000264784.3	1	1	hg19	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348115	0.82132	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;D;T;T	0.81499	-0.84;-1.5;-0.84;-0.84	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.184799	0.47093	D	0.000259	D	0.85008	0.5599	L	0.46885	1.475	0.38926	D	0.95783	P;D	0.62365	0.95;0.991	P;D	0.65684	0.643;0.937	D	0.84646	0.0698	9	.	.	.	.	14.7852	0.69796	0.0:1.0:0.0:0.0	.	89;118	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	T	89;118;89;89	ENSP00000422209:A89T;ENSP00000264784:A118T;ENSP00000311383:A89T;ENSP00000426800:A89T	.	A	-	1	0	SLC2A9	9607561	0.995000	0.38212	0.993000	0.49108	0.958000	0.62258	1.740000	0.38228	2.643000	0.89663	0.644000	0.83932	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1	1	0	1	62	292	0	88	0	9.525800e-01	0	26	0	88	2		0	0	0	0	0	2	1	1	59	283	0	87	2								-20.000000	1	1	121412	1	39	1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADH5	128	broad.mit.edu	37	4	99997895	99997895	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99997895C>T	ENST00000296412.8	-	5	574	c.524G>A	c.(523-525)gGc>gAc	p.G175D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide			13					GGTTGAAATGCCACAACCTAG	0.418000																								0							SO:0001583	missense			ENST00000296412.8	1	1	hg19	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617379	0.87359	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.23348	1.91;1.91	5.1	4.26	0.50523	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	H	0.99815	4.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85057	0.0932	9	.	.	.	-18.4869	14.0279	0.64597	0.0:0.9276:0.0:0.0724	.	175;175;175	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	175;162	ENSP00000296412:G175D;ENSP00000427049:G162D	.	G	-	2	0	ADH5	100216918	0.995000	0.38212	0.991000	0.47740	0.997000	0.91878	3.157000	0.50716	1.535000	0.49220	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	1	0	1	25	136	0	27	1	1	150	627	0	27	2		0	0	0	0	0	2	1	9.999999e-01	24	132	0	27	2								-14.366760	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999873	0.990000	1	9.900000e-01	1
ADH5	128	broad.mit.edu	37	4	99998042	99998042	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99998042C>T	ENST00000296412.8	-	5	427	c.377G>A	c.(376-378)gGt>gAt	p.G126D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide			13					TCTGCTGGTACCATCTGGCAT	0.368000																								0							SO:0001583	missense			ENST00000296412.8	0	1	hg19	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.413953	0.62511	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.03717	3.83;3.83	5.2	4.28	0.50868	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.498508	0.24988	N	0.034012	T	0.15176	0.0366	M	0.88906	2.99	0.58432	D	0.999993	P;P;P	0.43519	0.809;0.809;0.809	P;P;P	0.50825	0.651;0.651;0.651	T	0.00206	-1.1921	9	.	.	.	.	14.3347	0.66581	0.0:0.9184:0.0:0.0816	.	126;126;126	Q5U043;Q6IRT1;P11766	.;.;ADHX_HUMAN	D	126;113	ENSP00000296412:G126D;ENSP00000427049:G113D	.	G	-	2	0	ADH5	100217065	0.002000	0.14202	0.992000	0.48379	0.995000	0.86356	0.281000	0.18810	2.716000	0.92895	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	1	0	0	9	106	0	14	1	9.999994e-01	24	448	0	14	2		0	0	0	0	0	2	1	9.936505e-01	9	101	0	14	2								-14.249640	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.960000	0.470000	1.000000	1.000000	0.875729	0.960000	1	6.800000e-01	1
ST8SIA4	7903	broad.mit.edu	37	5	100191813	100191813	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:100191813A>C	ENST00000231461.5	-	4	1101	c.791T>G	c.(790-792)gTc>gGc	p.V264G		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4			25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)			TTACCCTCTGACAGCATGAAT	0.403000																								0							SO:0001583	missense			ENST00000231461.5	1	1	hg19	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027304	0.75390	.	.	ENSG00000113532	ENST00000231461	T	0.36157	1.27	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.63663	0.2530	M	0.89353	3.025	0.80722	D	1	D	0.63880	0.993	P	0.62813	0.907	T	0.71613	-0.4540	10	0.72032	D	0.01	-8.3466	14.6008	0.68441	1.0:0.0:0.0:0.0	.	264	Q92187	SIA8D_HUMAN	G	264	ENSP00000231461:V264G	ENSP00000231461:V264G	V	-	2	0	ST8SIA4	100219712	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.100000	0.94213	2.220000	0.72140	0.482000	0.46254	GTC		TCGA-IB-7651-01A-11D-2154-08	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	1	0	1	53	242	0	73	0	9.998377e-01	0	62	0	73	2		0	0	0	0	0	2	1	1	53	241	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO4C1	353189	broad.mit.edu	37	5	101583122	101583122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101583122C>T	ENST00000310954.6	-	10	1931	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1			50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)			GTTTTCCTTTCAATACAGGAA	0.299000																								0							SO:0001583	missense			ENST00000310954.6	1	1	hg19	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.006002	0.07866	.	.	ENSG00000173930	ENST00000310954	T	0.38401	1.14	6.17	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.549817	0.18733	N	0.132698	T	0.23054	0.0557	N	0.12961	0.28	0.37272	D	0.907466	B	0.02656	0.0	B	0.11329	0.006	T	0.11665	-1.0578	10	0.06757	T	0.87	.	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	549	Q6ZQN7	SO4C1_HUMAN	K	549	ENSP00000309741:E549K	ENSP00000309741:E549K	E	-	1	0	SLCO4C1	101611021	0.927000	0.31430	0.846000	0.33378	0.157000	0.22087	1.816000	0.38992	1.586000	0.49944	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	1	0	1	95	399	0	78	0	3.777504e-02	0	2	0	78	2		0	0	0	0	0	2	1	1	93	394	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO4C1	353189	broad.mit.edu	37	5	101631905	101631905	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101631905C>T	ENST00000310954.6	-	1	348	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1			50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)			AGACAAGCGGCGCAGGATGTC	0.572000																								0							SO:0001583	missense			ENST00000310954.6	1	1	hg19	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	7.900	0.734184	0.15574	.	.	ENSG00000173930	ENST00000310954	T	0.46451	0.87	4.11	2.32	0.28847	.	2.458350	0.01476	N	0.016471	T	0.35970	0.0950	L	0.42245	1.32	0.21386	N	0.999706	B	0.29432	0.244	B	0.18561	0.022	T	0.19031	-1.0318	10	0.48119	T	0.1	.	6.0552	0.19807	0.0:0.7624:0.0:0.2376	.	21	Q6ZQN7	SO4C1_HUMAN	H	21	ENSP00000309741:R21H	ENSP00000309741:R21H	R	-	2	0	SLCO4C1	101659804	0.640000	0.27243	0.793000	0.32043	0.076000	0.17211	0.117000	0.15583	0.379000	0.24794	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	1	0	1	60	274	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	60	270	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO6A1	133482	broad.mit.edu	37	5	101834238	101834238	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101834238T>C	ENST00000506729.1	-	1	482	c.311A>G	c.(310-312)aAc>aGc	p.N104S	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1			60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)			GCAGCGAATGTTATTGCAACA	0.537000																								0							SO:0001583	missense			ENST00000506729.1	1	1	hg19	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999617	0.35320	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46819	0.93;0.93;0.95;0.86;0.86	3.52	-0.11	0.13580	.	0.406962	0.21428	N	0.074706	T	0.47911	0.1471	L	0.32530	0.975	0.09310	N	1	D;P;D	0.65815	0.995;0.799;0.968	D;B;P	0.66716	0.946;0.12;0.507	T	0.32134	-0.9918	10	0.48119	T	0.1	.	5.7854	0.18331	0.0:0.3383:0.0:0.6617	.	104;104;104	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	104	ENSP00000421339:N104S;ENSP00000369135:N104S;ENSP00000373671:N104S;ENSP00000421990:N104S;ENSP00000369138:N104S	ENSP00000369135:N104S	N	-	2	0	SLCO6A1	101862137	0.001000	0.12720	0.010000	0.14722	0.051000	0.14879	-0.108000	0.10857	-0.017000	0.14103	0.397000	0.26171	AAC		TCGA-IB-7651-01A-11D-2154-08	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	1	0	1	90	422	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	87	419	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAM	5066	broad.mit.edu	37	5	102295657	102295657	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102295657C>A	ENST00000438793.3	+	12	1454	c.984C>A	c.(982-984)acC>acA	p.T328T	PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000455264.2_Silent_p.T328T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase			25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Vitamin C(DB00126)	CTTTCATGACCTGTACCCAGA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000438793.3	1	1	hg19	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143010	0.21205	.	.	ENSG00000145730	ENST00000379799	.	.	.	5.58	2.75	0.32379	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33394	-0.9870	4	.	.	.	.	3.1965	0.06635	0.1252:0.5677:0.1214:0.1858	.	.	.	.	M	101	.	.	L	+	1	2	PAM	102323556	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	0.210000	0.17455	0.733000	0.32492	0.460000	0.39030	CTG		TCGA-IB-7651-01A-11D-2154-08	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	1	0	1	89	369	0	92	1	1	54	434	0	92	2		0	0	0	0	0	2	1	1	88	364	0	92	2								-3.238463	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAM	5066	broad.mit.edu	37	5	102343346	102343346	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102343346A>G	ENST00000438793.3	+	19	2670	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	PAM_ENST00000274392.9_Missense_Mutation_p.I637V|PAM_ENST00000379787.4_Missense_Mutation_p.I114V|PAM_ENST00000304400.7_Missense_Mutation_p.I734V|PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000455264.2_Missense_Mutation_p.I734V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase			25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Vitamin C(DB00126)	TGTATTTGCAATTTCATATAT	0.333000																								0							SO:0001583	missense			ENST00000438793.3	1	1	hg19	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.315|7.315	0.615794|0.615794	0.14129|0.14129	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	D;D;D;T;D;D;D|.	0.89485|.	-2.52;-2.52;-2.52;0.61;-2.52;-2.52;-2.52|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Six-bladed beta-propeller, TolB-like (1);|.	0.097209|.	0.64402|.	D|.	0.000001|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.05306|0.05306	-0.075|-0.075	0.45634|0.45634	D|D	0.998561|0.998561	B;B;B;B;B;B|.	0.14805|.	0.003;0.006;0.003;0.004;0.011;0.011|.	B;B;B;B;B;B|.	0.22880|.	0.042;0.019;0.042;0.01;0.042;0.042|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.02654|.	T|.	1|.	.|.	7.4511|7.4511	0.27240|0.27240	0.838:0.0:0.162:0.0|0.838:0.0:0.162:0.0	.|.	637;734;734;734;734;627|.	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.;.|.	V|S	734;734;627;114;734;637;734|506	ENSP00000396493:I734V;ENSP00000282992:I734V;ENSP00000314638:I627V;ENSP00000369113:I114V;ENSP00000306100:I734V;ENSP00000274392:I637V;ENSP00000403461:I734V|.	ENSP00000274392:I637V|.	I|N	+|+	1|2	0|0	PAM|PAM	102371245|102371245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.422000|3.422000	0.52749|0.52749	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	ATT|AAT		TCGA-IB-7651-01A-11D-2154-08	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	1	0	1	47	169	0	30	1	1	93	550	0	30	2		0	0	0	0	0	2	1	1	46	168	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAM	5066	broad.mit.edu	37	5	102364643	102364643	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102364643C>A	ENST00000438793.3	+	25	3266	c.2796C>A	c.(2794-2796)ggC>ggA	p.G932G	PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000379787.4_Silent_p.G294G|PAM_ENST00000304400.7_Silent_p.G933G|PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000455264.2_Silent_p.G864G	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase			25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Vitamin C(DB00126)	GCCGTAAGGGCTACAGTCGAA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000438793.3	1	1	hg19	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.725|3.725	-0.056777|-0.056777	0.07362|0.07362	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000504691|ENST00000379799	.|.	.|.	.|.	6.03|6.03	0.07|0.07	0.14376|0.14376	.|.	.|.	.|.	.|.	.|.	T|T	0.54208|0.54208	0.1844|0.1844	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42749|0.42749	-0.9433|-0.9433	4|4	.|.	.|.	.|.	.|.	7.9509|7.9509	0.30014|0.30014	0.0959:0.5577:0.0:0.3464|0.0959:0.5577:0.0:0.3464	.|.	.|.	.|.	.|.	D|I	209|638	.|.	.|.	A|L	+|+	2|1	0|2	PAM|PAM	102392542|102392542	0.988000|0.988000	0.35896|0.35896	0.976000|0.976000	0.42696|0.42696	0.733000|0.733000	0.41908|0.41908	0.278000|0.278000	0.18753|0.18753	-0.258000|-0.258000	0.09446|0.09446	-0.797000|-0.797000	0.03246|0.03246	GCT|CTA		TCGA-IB-7651-01A-11D-2154-08	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	1	0	1	53	268	0	54	1	1	122	702	0	54	2		0	0	0	0	0	2	1	1	52	250	0	50	2								-3.249642	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM173B	134145	broad.mit.edu	37	5	10236629	10236629	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10236629C>T	ENST00000511437.1	-	3	417	c.405G>A	c.(403-405)gtG>gtA	p.V135V	FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000510052.1_Intron|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B			16					CAGATCCATGCACACCTTCTC	0.413000																								0							SO:0001819	synonymous_variant			ENST00000511437.1	1	1	hg19	CCDS43301.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	1	0	1	57	330	0	59	1	9.663813e-01	6	28	0	59	2		0	0	0	0	0	2	1	1	56	319	0	58	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FAM173B	134145	broad.mit.edu	37	5	10239412	10239412	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10239412T>G	ENST00000511437.1	-	2	85	c.73A>C	c.(73-75)Agt>Cgt	p.S25R	FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B			16					ACTTCAAAACTTGCAGGTAGA	0.463000																								0							SO:0001583	missense			ENST00000511437.1	1	1	hg19	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616075	0.28801	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.19669	2.13;2.16	5.19	1.41	0.22369	.	1.081510	0.06847	N	0.796684	T	0.20047	0.0482	M	0.61703	1.905	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.10450	0.004;0.005	T	0.35475	-0.9787	10	0.26408	T	0.33	-6.5071	3.1427	0.06461	0.2791:0.2294:0.0:0.4915	.	25;25	E9PBZ4;Q6P4H8	.;F173B_HUMAN	R	25	ENSP00000422338:S25R;ENSP00000420876:S25R	ENSP00000424210:S25R	S	-	1	0	FAM173B	10292412	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	0.040000	0.13905	0.012000	0.14892	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	0	0	1	106	425	0	103	1	9.795626e-01	7	20	0	103	2		0	0	0	0	0	2	1	1	106	420	0	102	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCT5	22948	broad.mit.edu	37	5	10250488	10250488	+	Silent	SNP	T	T	C	rs111848991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10250488T>C	ENST00000280326.4	+	1	456	c.36T>C	c.(34-36)taT>taC	p.Y12Y	CCT5_ENST00000515676.1_5'Flank|FAM173B_ENST00000510047.1_5'Flank|CCT5_ENST00000503026.1_Intron|FAM173B_ENST00000510052.1_5'Flank|CCT5_ENST00000506600.1_5'Flank|FAM173B_ENST00000280330.8_5'Flank|CTD-2256P15.1_ENST00000509915.1_RNA|CCT5_ENST00000515390.1_Silent_p.Y12Y|FAM173B_ENST00000511437.1_5'Flank	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)			26					TCGATGAATATGGGCGCCCTT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000280326.4	1	1	hg19	CCDS3877.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2	1	0	1	35	206	0	63	1	1	107	249	0	63	2		0	0	0	0	0	2	1	1	35	202	0	60	2								-20.000000	1	1	121408	2	31	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999902	0.990000	1	9.900000e-01	1
CCT5	22948	broad.mit.edu	37	5	10256191	10256191	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10256191C>T	ENST00000280326.4	+	4	876	c.456C>T	c.(454-456)agC>agT	p.S152S	CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000503026.1_Silent_p.S131S|CCT5_ENST00000506600.1_Silent_p.S59S|CCT5_ENST00000515390.1_Silent_p.S97S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)			26					ACAAGATCAGCGATAGCGTCC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000280326.4	1	1	hg19	CCDS3877.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2	1	0	1	15	131	0	50	1	1	162	483	0	50	2		0	0	0	0	0	2	1	9.998775e-01	15	127	0	50	2								-3.319273	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.700000	1.000000	1.000000	0.966033	0.990000	1	9.100000e-01	1
CCT5	22948	broad.mit.edu	37	5	10258614	10258614	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10258614C>T	ENST00000280326.4	+	6	1260	c.840C>T	c.(838-840)taC>taT	p.Y280Y	CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000503026.1_Silent_p.Y259Y|CCT5_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515390.1_Silent_p.Y225Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)			26					TTCAGAAATACGAAAAGGAGA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000280326.4	1	1	hg19	CCDS3877.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2	1	0	1	63	353	0	76	1	1	196	580	0	76	2		0	0	0	0	0	2	1	1	62	342	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCT5	22948	broad.mit.edu	37	5	10261800	10261800	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10261800C>T	ENST00000280326.4	+	8	1542	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000503026.1_Silent_p.I353I|CCT5_ENST00000506600.1_Silent_p.I281I|CCT5_ENST00000515390.1_Silent_p.I319I|CTD-2256P15.4_ENST00000606194.1_RNA	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)			26					TGCTGGTCATCGAGCAGTGTA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000280326.4	1	1	hg19	CCDS3877.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2	1	0	1	155	741	0	192	1	1	216	583	0	192	2		0	0	0	0	0	2	1	1	153	723	0	192	2								-3.085238	1	1	121412	1	33	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUDT12	83594	broad.mit.edu	37	5	102887938	102887938	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102887938G>A	ENST00000230792.2	-	6	1354	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	NUDT12_ENST00000507423.1_Missense_Mutation_p.R402C|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12			12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)			GTGAACCAGCGGGCATCCTCT	0.398000																								0							SO:0001583	missense			ENST00000230792.2	1	1	hg19	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492679	0.64074	0.0	1.16E-4	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.09723	2.95;2.95	5.76	5.76	0.90799	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.045576	0.85682	D	0.000000	T	0.26846	0.0657	M	0.85630	2.765	0.80722	D	1	P;D	0.54964	0.908;0.969	B;P	0.50162	0.244;0.633	T	0.02411	-1.1163	10	0.62326	D	0.03	-7.224	14.1623	0.65454	0.0714:0.0:0.9286:0.0	.	402;420	E7EM93;Q9BQG2	.;NUD12_HUMAN	C	420;402	ENSP00000230792:R420C;ENSP00000424521:R402C	ENSP00000230792:R420C	R	-	1	0	NUDT12	102915837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.453000	0.73488	2.724000	0.93272	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	1	0	1	74	376	0	73	1	9.995685e-01	21	39	0	73	2		0	0	0	0	0	2	1	1	71	370	0	73	2								-2.193753	0	1	121410	3	41	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKD2	85409	broad.mit.edu	37	5	1034966	1034966	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1034966C>T	ENST00000296849.5	+	7	751	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000274150.4_Silent_p.T174T	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	p.T174T(1)		14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		TGAAGCTAACCGTCAGCCCTG	0.617000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000296849.5	1	1	hg19	CCDS3859.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	1	0	1	24	121	0	37	0	9.919677e-01	0	42	0	37	2		0	0	0	0	0	2	1	9.999998e-01	23	120	0	36	2								-3.154368	1	1	121012	1	30	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999832	0.990000	1	9.900000e-01	1
MARCH6	10299	broad.mit.edu	37	5	10391791	10391791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10391791G>T	ENST00000274140.5	+	7	846	c.714G>T	c.(712-714)gaG>gaT	p.E238D	MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D|MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase			54					acaatgaggaggaagatgaCG	0.557000																								0							SO:0001583	missense			ENST00000274140.5	1	1	hg19	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657716	0.29425	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.47869	1.84;0.83;1.82	6.02	0.565	0.17309	.	0.147552	0.64402	N	0.000012	T	0.17238	0.0414	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.06041	-1.0849	10	0.12430	T	0.62	-6.7228	4.8495	0.13530	0.243:0.0:0.2982:0.4588	.	133;190;238	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	D	190;133;238	ENSP00000414643:E190D;ENSP00000425930:E133D;ENSP00000274140:E238D	ENSP00000274140:E238D	E	+	3	2	MARCH6	10444791	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.545000	0.36169	0.130000	0.18549	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	1	0	0	11	186	0	33	1	9.970955e-01	14	161	0	33	2		0	0	0	0	0	2	1	9.982431e-01	11	181	0	33	2								-3.326310	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.650000	0.350000	1.000000	1.000000	0.673548	0.650000	0	4.800000e-01	8.600000e-01
SLC12A7	10723	broad.mit.edu	37	5	1052522	1052522	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052522G>T	ENST00000264930.5	-	24	3248	c.3205C>A	c.(3205-3207)Ctc>Atc	p.L1069I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7			32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	Potassium Chloride(DB00761)	CTGACCAGGAGGACTCTGTTC	0.582000																								0							SO:0001583	missense			ENST00000264930.5	1	1	hg19	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005878	0.54254	.	.	ENSG00000113504	ENST00000264930	T	0.57107	0.42	3.88	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.53594	0.1806	M	0.73430	2.235	0.46725	D	0.999177	P	0.41947	0.766	P	0.46144	0.505	T	0.50533	-0.8817	10	0.40728	T	0.16	.	5.193	0.15220	0.1123:0.0:0.6865:0.2012	.	1069	Q9Y666	S12A7_HUMAN	I	1069	ENSP00000264930:L1069I	ENSP00000264930:L1069I	L	-	1	0	SLC12A7	1105522	1.000000	0.71417	0.484000	0.27391	0.990000	0.78478	5.150000	0.64869	0.747000	0.32809	0.491000	0.48974	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	1	0	1	54	590	0	126	1	9.999993e-01	39	183	0	126	2		0	0	0	0	0	2	1	1	51	577	0	121	2								-13.775560	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.960000	0.730000	1.000000	1.000000	0.937751	0.960000	1	8.400000e-01	1
SLC12A7	10723	broad.mit.edu	37	5	1052541	1052541	+	Silent	SNP	G	G	A	rs138980870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052541G>A	ENST00000264930.5	-	24	3229	c.3186C>T	c.(3184-3186)acC>acT	p.T1062T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7			32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	Potassium Chloride(DB00761)	TCAGCCCCTCGGTCAGGACTT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000264930.5	1	1	hg19	CCDS34129.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	1	0	0	33	510	0	104	1	9.999530e-01	36	196	0	104	2		0	0	0	0	0	2	1	1	33	495	0	102	2								-2.559088	1	0	121408	7	43	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.700000	0.490000	0.940000	0.700000	0.714869	0.700000	0	5.900000e-01	8.300000e-01
SLC12A7	10723	broad.mit.edu	37	5	1064240	1064240	+	Silent	SNP	G	G	A	rs137938985	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1064240G>A	ENST00000264930.5	-	19	2608	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7			32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	Potassium Chloride(DB00761)	TGAGCATGCCGCCGTCGTGCA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000264930.5	1	0	hg19	CCDS34129.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.483	0.860238	0.17178	4.55E-4	9.32E-4	ENSG00000113504	ENST00000513223	.	.	.	4.26	-2.24	0.06909	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31806	-0.9930	4	.	.	.	.	2.4554	0.04528	0.1945:0.1736:0.4441:0.1878	.	.	.	.	W	213	.	.	R	-	1	2	SLC12A7	1117240	0.189000	0.23263	0.999000	0.59377	0.657000	0.38888	-0.799000	0.04560	-0.046000	0.13446	0.313000	0.20887	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	1	0	0	12	198	0	31	1	9.995738e-01	24	208	0	31	2		0	0	0	0	0	2	1	9.990993e-01	12	194	0	31	2								-10.733150	1	1	120800	161	51	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.660000	0.360000	1.000000	1.000000	0.686116	0.660000	0	5.000000e-01	8.700000e-01
FBXL17	64839	broad.mit.edu	37	5	107216798	107216798	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107216798G>A	ENST00000542267.1	-	8	2311	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	FBXL17_ENST00000359660.5_Silent_p.A237A|FBXL17_ENST00000496714.1_Silent_p.A237A	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17			6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)			CAATCAGGGTGGCTCCTTGGT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000542267.1	1	1	hg19	CCDS54886.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	52	595	0	114	1	7.956766e-01	2	34	0	114	2		0	0	0	0	0	2	1	1	53	583	0	114	2								-3.017764	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.960000	0.720000	1.000000	1.000000	0.932494	0.960000	1	8.300000e-01	1
FBXL17	64839	broad.mit.edu	37	5	107559841	107559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107559841C>T	ENST00000542267.1	-	5	2001	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	FBXL17_ENST00000359660.5_Missense_Mutation_p.G134E|FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17			6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)			GTGAATGACTCCTTTAGAAGT	0.398000																								0							SO:0001583	missense			ENST00000542267.1	1	1	hg19	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613456	0.87359	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.17213	2.29;4.3;2.29	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.41627	0.1167	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.16719	-1.0393	10	0.72032	D	0.01	.	19.3264	0.94264	0.0:1.0:0.0:0.0	.	532;134	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	E	134;532;134	ENSP00000352683:G134E;ENSP00000437464:G532E;ENSP00000418111:G134E	ENSP00000352683:G134E	G	-	2	0	FBXL17	107587740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.586000	0.87340	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	43	186	0	81	1	9.947740e-01	2	36	0	81	2		0	0	0	0	0	2	1	1	43	183	0	81	2								-3.405807	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FER	2241	broad.mit.edu	37	5	108168620	108168620	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108168620G>T	ENST00000281092.4	+	4	741	c.357G>T	c.(355-357)caG>caT	p.Q119H	FER_ENST00000438717.2_Intron|FER_ENST00000536402.1_Missense_Mutation_p.Q119H|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase			32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)			GTGTTCATCAGCAGATAGAGG	0.383000													Colon(146;1051 1799 9836 27344 47401)											0							SO:0001583	missense			ENST00000281092.4	1	1	hg19	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170539	0.78452	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.44482	0.92;0.92	6.11	3.36	0.38483	.	0.052287	0.85682	D	0.000000	T	0.52158	0.1717	L	0.58101	1.795	0.80722	D	1	D;D	0.62365	0.991;0.976	P;P	0.57324	0.818;0.72	T	0.51309	-0.8722	10	0.66056	D	0.02	-11.7439	10.5961	0.45338	0.2783:0.0:0.7217:0.0	.	119;119	Q6PEJ9;P16591	.;FER_HUMAN	H	119	ENSP00000281092:Q119H;ENSP00000442627:Q119H	ENSP00000281092:Q119H	Q	+	3	2	FER	108196519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.129000	0.57957	0.450000	0.26774	-0.136000	0.14681	CAG		TCGA-IB-7651-01A-11D-2154-08	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1	108	410	0	88	1	9.715516e-01	4	20	0	88	2		0	0	0	0	0	2	1	1	105	401	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FER	2241	broad.mit.edu	37	5	108281903	108281903	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108281903T>G	ENST00000281092.4	+	11	1693	c.1309T>G	c.(1309-1311)Tct>Gct	p.S437A	FER_ENST00000438717.2_Missense_Mutation_p.S262A|FER_ENST00000536402.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase			32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)			GTCTCCAAAATCTGCACTGGG	0.378000													Colon(146;1051 1799 9836 27344 47401)											0							SO:0001583	missense			ENST00000281092.4	1	1	hg19	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	8.595	0.885594	0.17540	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.74737	-0.87;-0.87	5.45	5.45	0.79879	.	0.152771	0.64402	D	0.000011	T	0.74238	0.3690	M	0.70595	2.14	0.42790	D	0.993896	B	0.06786	0.001	B	0.04013	0.001	T	0.72043	-0.4409	10	0.51188	T	0.08	-12.5668	15.7979	0.78424	0.0:0.0:0.0:1.0	.	437	P16591	FER_HUMAN	A	437;262	ENSP00000281092:S437A;ENSP00000394297:S262A	ENSP00000281092:S437A	S	+	1	0	FER	108309802	1.000000	0.71417	0.989000	0.46669	0.655000	0.38815	3.468000	0.53086	2.196000	0.70406	0.402000	0.26972	TCT		TCGA-IB-7651-01A-11D-2154-08	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1	101	404	0	103	0	6.253781e-01	1	9	0	103	2		0	0	0	0	0	2	1	1	100	393	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FER	2241	broad.mit.edu	37	5	108290635	108290635	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108290635T>C	ENST00000281092.4	+	12	1917		c.e12+2		FER_ENST00000438717.2_Splice_Site|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase			32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)			TATGTTGATGTACGTTTCCAG	0.348000													Colon(146;1051 1799 9836 27344 47401)											0							SO:0001630	splice_region_variant			ENST00000281092.4	1	1	hg19	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407503	0.83340	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0679	0.72011	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER	108318534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.012000	0.88631	1.941000	0.56285	0.455000	0.32223	.		TCGA-IB-7651-01A-11D-2154-08	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	0	71	350	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	70	343	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FER	2241	broad.mit.edu	37	5	108294941	108294941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108294941G>A	ENST00000281092.4	+	13	1933	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	FER_ENST00000438717.2_Missense_Mutation_p.E342K|FER_ENST00000536402.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase			32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)			GTATCGATTCGAGGGCACTGG	0.343000													Colon(146;1051 1799 9836 27344 47401)											0							SO:0001583	missense			ENST00000281092.4	1	1	hg19	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588898	0.96590	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.63255	-0.03;-0.03	6.07	6.07	0.98685	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78404	-0.2217	10	0.72032	D	0.01	-23.2857	20.6593	0.99626	0.0:0.0:1.0:0.0	.	517	P16591	FER_HUMAN	K	517;342	ENSP00000281092:E517K;ENSP00000394297:E342K	ENSP00000281092:E517K	E	+	1	0	FER	108322840	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1	59	256	0	62	1	8.922405e-01	5	14	0	62	2		0	0	0	0	0	2	1	1	58	250	0	62	2								-3.233803	1	1	121400	1	28	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A7	10723	broad.mit.edu	37	5	1084037	1084037	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1084037G>A	ENST00000264930.5	-	8	995	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7			32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	Potassium Chloride(DB00761)	TCGAAGCTGCGCCGTGACAGC	0.682000																								0							SO:0001583	missense			ENST00000264930.5	1	1	hg19	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412562	0.42817	2.27E-4	0.0	ENSG00000113504	ENST00000264930	T	0.62941	-0.01	3.68	3.68	0.42216	.	0.203944	0.45361	D	0.000371	T	0.59756	0.2217	M	0.67953	2.075	0.09310	N	0.999996	P	0.44521	0.837	B	0.42522	0.39	T	0.58440	-0.7636	10	0.56958	D	0.05	.	9.8471	0.41034	0.0:0.0:0.7946:0.2054	.	318	Q9Y666	S12A7_HUMAN	C	318	ENSP00000264930:R318C	ENSP00000264930:R318C	R	-	1	0	SLC12A7	1137037	0.002000	0.14202	0.011000	0.14972	0.065000	0.16274	1.214000	0.32419	1.768000	0.52137	0.478000	0.44815	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	0	0	1	50	220	0	41	1	1	97	206	0	41	2		0	0	0	0	0	2	1	1	50	218	0	39	2								-20.000000	1	1	121052	7	37	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FER	2241	broad.mit.edu	37	5	108516459	108516459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516459C>T	ENST00000281092.4	+	18	2444	c.2060C>T	c.(2059-2061)gCa>gTa	p.A687V	FER_ENST00000438717.2_Missense_Mutation_p.A512V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase			32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)			GACCTTGCTGCAAGAAACTGC	0.383000													Colon(146;1051 1799 9836 27344 47401)											0							SO:0001583	missense			ENST00000281092.4	1	1	hg19	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117416	0.94385	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.37058	1.22;1.22	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77755	-0.2469	10	0.87932	D	0	-12.7602	18.8338	0.92153	0.0:1.0:0.0:0.0	.	687	P16591	FER_HUMAN	V	687;512	ENSP00000281092:A687V;ENSP00000394297:A512V	ENSP00000281092:A687V	A	+	2	0	FER	108544358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.434000	0.82447	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1	78	419	0	90	0	9.182680e-01	0	25	0	90	2		0	0	0	0	0	2	1	1	77	411	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FER	2241	broad.mit.edu	37	5	108516585	108516585	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516585C>T	ENST00000281092.4	+	18	2570	c.2186C>T	c.(2185-2187)cCg>cTg	p.P729L	FER_ENST00000438717.2_Missense_Mutation_p.P554L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase			32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)			TGGACAGCACCGGAAGCTCTT	0.368000													Colon(146;1051 1799 9836 27344 47401)											0							SO:0001583	missense			ENST00000281092.4	1	1	hg19	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874551	0.91664	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.79749	-1.3;-1.3	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93461	0.6810	10	0.87932	D	0	-15.3907	19.6891	0.95991	0.0:1.0:0.0:0.0	.	729	P16591	FER_HUMAN	L	729;554	ENSP00000281092:P729L;ENSP00000394297:P554L	ENSP00000281092:P729L	P	+	2	0	FER	108544484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.641000	0.89580	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	1	0	1	70	336	0	61	1	9.888798e-01	5	31	0	61	2		0	0	0	0	0	2	1	1	67	333	0	61	2								-2.455044	0	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAN2A1	4124	broad.mit.edu	37	5	109156033	109156033	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109156033G>T	ENST00000261483.4	+	15	3493	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1			55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)			TTACCTGATGGTAATGCCAAG	0.343000																								0							SO:0001583	missense			ENST00000261483.4	1	1	hg19	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677093	0.68042	.	.	ENSG00000112893	ENST00000261483	D	0.82081	-1.57	5.97	5.97	0.96955	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.356317	0.33272	N	0.005098	D	0.93406	0.7897	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93821	0.7119	10	0.72032	D	0.01	-12.4663	20.0338	0.97549	0.0:0.0:1.0:0.0	.	814	Q16706	MA2A1_HUMAN	V	814	ENSP00000261483:G814V	ENSP00000261483:G814V	G	+	2	0	MAN2A1	109183932	1.000000	0.71417	0.960000	0.40013	0.574000	0.36063	5.563000	0.67352	2.836000	0.97738	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	1	0	1	49	192	0	54	1	1	52	139	0	54	2		0	0	0	0	0	2	1	1	48	190	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAN2A1	4124	broad.mit.edu	37	5	109190997	109190997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109190997G>A	ENST00000261483.4	+	20	4185	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1			55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)			TTTGCCTTGTGACATTCATCT	0.353000																								0							SO:0001583	missense			ENST00000261483.4	1	1	hg19	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283360	0.95489	.	.	ENSG00000112893	ENST00000261483	D	0.82803	-1.65	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.88570	2.965	0.80722	D	1	P	0.50066	0.931	P	0.62649	0.905	D	0.92695	0.6170	10	0.72032	D	0.01	-19.9166	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1045	Q16706	MA2A1_HUMAN	N	1045	ENSP00000261483:D1045N	ENSP00000261483:D1045N	D	+	1	0	MAN2A1	109218896	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.029000	0.88807	2.861000	0.98227	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	0	0	1	34	192	1	44	1	9.979125e-01	56	204	1	44	19		0	0	0	0	0	2	1	9.957544e-01	34	189	1	44	17								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
MAN2A1	4124	broad.mit.edu	37	5	109191007	109191007	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109191007T>C	ENST00000261483.4	+	20	4195	c.3143T>C	c.(3142-3144)cTg>cCg	p.L1048P	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1			55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)			GACATTCATCTGGTTAATTTG	0.358000																								0							SO:0001583	missense			ENST00000261483.4	1	1	hg19	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306901	0.81247	.	.	ENSG00000112893	ENST00000261483	D	0.87334	-2.24	6.03	6.03	0.97812	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.074033	0.56097	D	0.000028	D	0.94503	0.8230	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.95268	0.8375	10	0.87932	D	0	-11.097	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1048	Q16706	MA2A1_HUMAN	P	1048	ENSP00000261483:L1048P	ENSP00000261483:L1048P	L	+	2	0	MAN2A1	109218906	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.560000	0.73950	2.308000	0.77769	0.533000	0.62120	CTG		TCGA-IB-7651-01A-11D-2154-08	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	1	0	1	44	181	0	39	1	1	60	183	0	39	2		0	0	0	0	0	2	1	1	43	178	0	39	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAN2A1	4124	broad.mit.edu	37	5	109202616	109202616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109202616C>T	ENST00000261483.4	+	22	4404	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1			55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)			ATCCTTGATGCATTCACCTCC	0.358000																								0							SO:0001583	missense			ENST00000261483.4	0	1	hg19	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	6.228	0.410203	0.11812	.	.	ENSG00000112893	ENST00000261483	D	0.82893	-1.66	6.03	4.25	0.50352	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.203177	0.44483	D	0.000453	T	0.76821	0.4041	L	0.35487	1.065	0.45662	D	0.998586	B	0.27264	0.173	B	0.35688	0.208	T	0.68777	-0.5319	9	.	.	.	-6.2768	12.481	0.55842	0.0:0.866:0.0:0.134	.	1118	Q16706	MA2A1_HUMAN	Y	1118	ENSP00000261483:H1118Y	.	H	+	1	0	MAN2A1	109230515	1.000000	0.71417	0.964000	0.40570	0.797000	0.45037	4.052000	0.57420	0.881000	0.35993	0.655000	0.94253	CAT		TCGA-IB-7651-01A-11D-2154-08	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	0	0	0	11	416	0	90	1	9.718248e-01	6	224	0	90	2		0	0	0	0	0	2	1	9.981256e-01	11	405	0	89	2								-3.005286	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.320000	0.160000	1.000000	0.310000	0.376849	0.320000	0	2.300000e-01	4.600000e-01
SLC25A46	91137	broad.mit.edu	37	5	110083868	110083868	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110083868C>A	ENST00000355943.3	+	5	593	c.467C>A	c.(466-468)cCt>cAt	p.P156H	SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H|SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P10H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46			10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)			ATTTAGGGACCTAGAGCCCTG	0.358000																								0							SO:0001583	missense			ENST00000355943.3	0	1	hg19	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322865	0.41096	.	.	ENSG00000164209	ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.44	4.57	0.56435	Mitochondrial carrier domain (2);	0.302356	0.36815	N	0.002400	T	0.74245	0.3691	L	0.56769	1.78	0.41757	D	0.989698	P;P	0.51653	0.947;0.947	P;B	0.44561	0.453;0.408	T	0.74743	-0.3562	10	0.45353	T	0.12	-10.1322	10.0431	0.42171	0.0:0.8448:0.0:0.1552	.	65;156	B4DY98;Q96AG3	.;S2546_HUMAN	H	65;156;10;156;10	ENSP00000424136:P65H;ENSP00000348211:P156H;ENSP00000399717:P156H;ENSP00000425708:P10H	ENSP00000348211:P156H	P	+	2	0	SLC25A46	110111767	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.155000	0.58131	1.296000	0.44742	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	0	0	0	20	311	1	67	1	4.016046e-01	14	97	1	67	8		0	0	0	0	0	2	1	7.382345e-01	19	309	1	66	17								-3.319340	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.730000	0.460000	1.000000	1.000000	0.751991	0.730000	0	5.800000e-01	9.500000e-01
TSLP	85480	broad.mit.edu	37	5	110409278	110409278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110409278G>A	ENST00000344895.3	+	3	485	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TSLP_ENST00000379706.4_5'UTR|TSLP_ENST00000420978.2_Missense_Mutation_p.E96K	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	p.E96*(1)		11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)			GCTCGCCAAAGAAATGTTCGC	0.522000																								1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000344895.3	1	1	hg19	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658779	0.47467	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	4.93	0.0754	0.14399	.	1.399250	0.04838	N	0.440053	T	0.17704	0.0425	N	0.08118	0	0.09310	N	0.999999	B	0.27229	0.172	B	0.29598	0.104	T	0.19778	-1.0295	9	0.15952	T	0.53	-3.4937	3.7658	0.08622	0.3711:0.0:0.4641:0.1647	.	96	Q969D9	TSLP_HUMAN	K	96	.	ENSP00000339804:E96K	E	+	1	0	TSLP	110437177	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.322000	0.19576	-0.099000	0.12263	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	1	0	1	182	797	0	208	0	9.659306e-01	0	26	0	208	2	0	0	1	0	0	0	2	1	1	178	777	0	206	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAMK4	814	broad.mit.edu	37	5	110818547	110818547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110818547C>T	ENST00000282356.4	+	10	1291	c.893C>T	c.(892-894)cCg>cTg	p.P298L	CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV			30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)			CTCCAGCATCCGTGGGTCACA	0.408000																								0							SO:0001583	missense			ENST00000282356.4	1	1	hg19	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977222	0.92982	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.56941	0.43;0.43	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86752	0.1961	10	0.87932	D	0	.	19.0311	0.92957	0.0:1.0:0.0:0.0	.	298	Q16566	KCC4_HUMAN	L	298	ENSP00000422634:P298L;ENSP00000282356:P298L	ENSP00000282356:P298L	P	+	2	0	CAMK4	110846446	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	7.388000	0.79795	2.482000	0.83794	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	1	0	1	89	391	0	76	0	5.805327e-01	0	10	0	76	2		0	0	0	0	0	2	1	1	87	387	0	75	2								-2.358860	0	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STARD4	134429	broad.mit.edu	37	5	110835588	110835588	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835588A>G	ENST00000296632.3	-	6	748	c.614T>C	c.(613-615)tTa>tCa	p.L205S	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4			12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)			TGCCTCTCATAAAGCTTTTCG	0.408000																								0							SO:0001583	missense			ENST00000296632.3	1	1	hg19	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912125	0.72983	.	.	ENSG00000164211	ENST00000296632	D	0.92099	-2.97	4.85	4.85	0.62838	Lipid-binding START (1);	0.000000	0.56097	D	0.000021	D	0.95066	0.8402	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95434	0.8519	10	0.87932	D	0	-11.0684	13.4591	0.61217	1.0:0.0:0.0:0.0	.	205	Q96DR4	STAR4_HUMAN	S	205	ENSP00000296632:L205S	ENSP00000296632:L205S	L	-	2	0	STARD4	110863487	0.862000	0.29867	0.005000	0.12908	0.258000	0.26162	3.302000	0.51849	2.173000	0.68751	0.528000	0.53228	TTA		TCGA-IB-7651-01A-11D-2154-08	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	1	0	1	70	300	0	78	1	9.999753e-01	21	48	0	78	2		0	0	0	0	0	2	1	1	70	298	0	78	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STARD4	134429	broad.mit.edu	37	5	110835647	110835647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4			12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)			CTGTATCTACCGCAGACTGAG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000296632.3	1	1	hg19	CCDS4104.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	1	0	1	105	414	0	103	1	9.999950e-01	23	48	0	103	2		0	0	0	0	0	2	1	1	102	409	0	102	2								-2.781724	1	0	121412	4	36	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB41L4A	64097	broad.mit.edu	37	5	111598231	111598231	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111598231T>G	ENST00000261486.5	-	7	878	c.602A>C	c.(601-603)aAa>aCa	p.K201T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A			34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)			CTCCAGGGATTTGGCAGTCCT	0.403000																								0							SO:0001583	missense			ENST00000261486.5	1	1	hg19	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021391	0.75275	.	.	ENSG00000129595	ENST00000261486	T	0.78481	-1.18	5.54	3.16	0.36331	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.101615	0.64402	D	0.000004	D	0.87819	0.6273	M	0.89030	3	0.37051	D	0.897587	D	0.89917	1.0	D	0.77557	0.99	D	0.88791	0.3278	10	0.87932	D	0	.	8.969	0.35894	0.0:0.1533:0.0:0.8467	.	201	Q9HCS5	E41LA_HUMAN	T	201	ENSP00000261486:K201T	ENSP00000261486:K201T	K	-	2	0	EPB41L4A	111626130	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	1.525000	0.35953	0.489000	0.27749	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1	1	0	1	92	413	0	104	1	9.763320e-01	7	22	0	104	2		0	0	0	0	0	2	1	1	90	405	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB41L4A	64097	broad.mit.edu	37	5	111615981	111615981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111615981C>T	ENST00000261486.5	-	3	520	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A			34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)			TTGATCAGTTCTTTGTGTTCA	0.378000																								0							SO:0001583	missense			ENST00000261486.5	1	1	hg19	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455780	0.43634	.	.	ENSG00000129595	ENST00000261486	T	0.75589	-0.95	5.74	5.74	0.90152	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.065340	0.64402	D	0.000005	T	0.52403	0.1732	N	0.00894	-1.105	0.40684	D	0.982336	P	0.47253	0.892	P	0.48488	0.579	T	0.61559	-0.7038	10	0.02654	T	1	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	82	Q9HCS5	E41LA_HUMAN	K	82	ENSP00000261486:E82K	ENSP00000261486:E82K	E	-	1	0	EPB41L4A	111643880	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.005000	0.70716	2.715000	0.92844	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1	1	0	1	218	952	0	265	1	9.915966e-01	9	25	0	265	2		0	0	0	0	0	2	1	1	217	931	0	264	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A			34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)			TGATGGAATACGTGGTCAAGG	0.383000																								0							SO:0001583	missense			ENST00000261486.5	1	1	hg19	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480657	0.44044	.	.	ENSG00000129595	ENST00000261486	D	0.82167	-1.58	5.82	4.77	0.60923	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.215065	0.37809	N	0.001931	T	0.80613	0.4656	M	0.66378	2.025	0.35913	D	0.831215	B	0.30605	0.287	B	0.23574	0.047	D	0.83844	0.0259	10	0.46703	T	0.11	.	15.5137	0.75806	0.0:0.9219:0.0:0.0781	.	45	Q9HCS5	E41LA_HUMAN	I	45	ENSP00000261486:V45I	ENSP00000261486:V45I	V	-	1	0	EPB41L4A	111671053	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	4.392000	0.59659	2.754000	0.94517	0.643000	0.83706	GTA		TCGA-IB-7651-01A-11D-2154-08	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1	1	0	1	40	201	0	56	1	9.772209e-01	10	23	0	56	2		0	0	0	0	0	2	1	1	39	201	0	56	2								-2.966678	1	1	120836	4	36	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
APC	324	broad.mit.edu	37	5	112111375	112111375	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112111375T>C	ENST00000457016.1	+	5	852	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	APC_ENST00000508376.2_Missense_Mutation_p.Y158H|APC_ENST00000257430.4_Missense_Mutation_p.Y158H|RNU6-482P_ENST00000391068.1_RNA			P25054	APC_HUMAN	adenomatous polyposis coli			3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)			AAAAGACTGGTATTACGCTCA	0.289000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	0		GRCh37	CI042641	APC	I		SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ENST00000457016.1	1	1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460506	0.84317	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	L	0.52573	1.65	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.93476	0.6823	10	0.87932	D	0	-14.6976	15.5121	0.75793	0.0:0.0:0.0:1.0	.	160;158	Q4LE70;P25054	.;APC_HUMAN	H	158;168;158;158;158	ENSP00000413133:Y158H;ENSP00000423224:Y168H;ENSP00000257430:Y158H;ENSP00000427089:Y158H;ENSP00000423828:Y158H	ENSP00000257430:Y158H	Y	+	1	0	APC	112139274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.065000	0.61736	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	1	69	324	0	82	1	9.591018e-01	11	16	0	82	2		0	0	0	0	0	2	1	1	68	316	0	82	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APC	324	broad.mit.edu	37	5	112128185	112128185	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112128185C>T	ENST00000457016.1	+	7	1068	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	APC_ENST00000508376.2_Missense_Mutation_p.R230C|APC_ENST00000257430.4_Missense_Mutation_p.R230C			P25054	APC_HUMAN	adenomatous polyposis coli			3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)			GGACATACTTCGTATACGACA	0.308000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ENST00000457016.1	1	1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943797	0.73672	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.19	4.31	0.51392	.	0.107791	0.64402	D	0.000016	D	0.94023	0.8085	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.70716	0.97	D	0.94601	0.7796	10	0.87932	D	0	-13.2275	15.4696	0.75432	0.1399:0.8601:0.0:0.0	.	230	P25054	APC_HUMAN	C	230	ENSP00000413133:R230C;ENSP00000257430:R230C;ENSP00000427089:R230C;ENSP00000423828:R230C	ENSP00000257430:R230C	R	+	1	0	APC	112156084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.859000	0.55987	1.296000	0.44742	-0.175000	0.13238	CGT		TCGA-IB-7651-01A-11D-2154-08	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	1	57	238	0	39	1	9.888146e-01	6	26	0	39	2		0	0	0	0	0	2	1	1	57	235	0	39	2								-3.546317	1	1	121404	1	30	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APC	324	broad.mit.edu	37	5	112154761	112154761	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154761T>C	ENST00000457016.1	+	10	1412	c.1032T>C	c.(1030-1032)tgT>tgC	p.C344C	APC_ENST00000508376.2_Silent_p.C344C|APC_ENST00000257430.4_Silent_p.C344C			P25054	APC_HUMAN	adenomatous polyposis coli			3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)			AAGACAGCTGTATATCCATGC	0.443000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	0							SO:0001819	synonymous_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ENST00000457016.1	1	1	hg19	CCDS4107.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	1	119	446	0	82	1	9.876648e-01	5	23	0	82	2		0	0	0	0	0	2	1	1	119	441	0	80	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APC	324	broad.mit.edu	37	5	112154849	112154849	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154849C>T	ENST00000457016.1	+	10	1500	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	APC_ENST00000508376.2_Missense_Mutation_p.R374W|APC_ENST00000257430.4_Missense_Mutation_p.R374W			P25054	APC_HUMAN	adenomatous polyposis coli			3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)			GGGAAATTCCCGGGGCAGTAA	0.517000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ENST00000457016.1	1	1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272903	0.59649	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93859	-2.6;-3.3;-2.6;-2.6;-2.78	5.94	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	M	0.68317	2.08	0.48288	D	0.999625	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.957	D	0.96078	0.9051	10	0.87932	D	0	-11.186	16.6427	0.85130	0.1303:0.8697:0.0:0.0	.	376;374	Q4LE70;P25054	.;APC_HUMAN	W	374;356;374;374;374	ENSP00000413133:R374W;ENSP00000423224:R356W;ENSP00000257430:R374W;ENSP00000427089:R374W;ENSP00000423828:R374W	ENSP00000257430:R374W	R	+	1	2	APC	112182748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.749000	0.55150	2.832000	0.97577	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	0	0	0	11	256	0	43	1	2.093443e-01	2	17	0	43	2		0	0	0	0	0	2	1	9.982556e-01	11	251	0	43	2								-2.593970	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.510000	0.260000	1.000000	0.480000	0.554348	0.510000	0	3.700000e-01	7.200000e-01
APC	324	broad.mit.edu	37	5	112176129	112176129	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112176129C>A	ENST00000457016.1	+	16	5218	c.4838C>A	c.(4837-4839)cCt>cAt	p.P1613H	APC_ENST00000508376.2_Missense_Mutation_p.P1613H|APC_ENST00000257430.4_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	p.K1192fs*3(1)|p.?(1)		3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)			AGTCAGCTGCCTGTGTACAAA	0.463000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	2	Unknown(1)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ENST00000457016.1	1	1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117024	0.77323	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95853	-3.83;-3.83;-3.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94606	0.7800	9	.	.	.	-19.7075	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1615;1613	Q4LE70;P25054	.;APC_HUMAN	H	1613	ENSP00000413133:P1613H;ENSP00000257430:P1613H;ENSP00000427089:P1613H	.	P	+	2	0	APC	112204028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	1	99	839	0	188	1	8.520994e-01	5	26	0	188	2		0	0	0	0	0	2	1	1	98	815	0	186	2								-3.318794	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999615	0.990000	1	9.900000e-01	1
ZRSR1	7310	broad.mit.edu	37	5	112228631	112228631	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112228631G>T	ENST00000391338.1	+	1	1319	c.1295G>T	c.(1294-1296)aGg>aTg	p.R432M	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1			4					GGAAGAAATAGGCACCGCAGC	0.572000																								0							SO:0001583	missense			ENST00000391338.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.28	2.190893	0.38707	.	.	ENSG00000212643	ENST00000391338	T	0.02579	4.24	1.48	1.48	0.22813	.	0.136890	0.64402	D	0.000012	T	0.05090	0.0136	.	.	.	0.09310	N	1	P	0.50156	0.932	P	0.52881	0.712	T	0.22312	-1.0220	9	0.62326	D	0.03	.	3.8537	0.08967	0.235:0.0:0.765:0.0	.	432	Q15695	U2AFL_HUMAN	M	432	ENSP00000375133:R432M	ENSP00000375133:R432M	R	+	2	0	ZRSR1	112256530	0.988000	0.35896	0.010000	0.14722	0.004000	0.04260	2.106000	0.41835	1.115000	0.41800	0.467000	0.42956	AGG		TCGA-IB-7651-01A-11D-2154-08	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	0	0	0	22	84	0	13	0	8.152846e-01	0	14	0	13	2		0	0	0	0	0	2	1	9.999992e-01	19	83	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
DCP2	167227	broad.mit.edu	37	5	112321682	112321682	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112321682T>C	ENST00000389063.2	+	2	402	c.204T>C	c.(202-204)gcT>gcC	p.A68A	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Splice_Site_p.A68A	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2			10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)			TTGCTAAAGCTGATATCCTTT	0.328000																								0							SO:0001630	splice_region_variant			ENST00000389063.2	1	0	hg19	CCDS34210.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	1	0	1	79	377	0	66	1	9.335891e-01	4	20	0	66	2		0	0	0	0	0	2	1	1	76	375	0	65	2								-20.000000	1	1	121412	3	35	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCC	4163	broad.mit.edu	37	5	112399705	112399705	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112399705C>A	ENST00000302475.4	-	12	2182	c.1619G>T	c.(1618-1620)aGc>aTc	p.S540I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.S730I|MCC_ENST00000515367.2_Missense_Mutation_p.S477I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers			42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)			GGAGGAAAGGCTCTCCCAGGG	0.617000																								0							SO:0001583	missense			ENST00000302475.4	1	1	hg19	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186537	0.78789	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.37752	2.34;2.34;1.18	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.99	D;D;D	0.80764	0.962;0.994;0.944	T	0.47368	-0.9123	10	0.46703	T	0.11	-22.4174	19.638	0.95744	0.0:1.0:0.0:0.0	.	540;730;540	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	I	540;477;730	ENSP00000305617:S540I;ENSP00000421615:S477I;ENSP00000386227:S730I	ENSP00000305617:S540I	S	-	2	0	MCC	112427604	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.147000	0.71783	2.626000	0.88956	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	1	0	1	86	354	0	76	0	9.445297e-01	0	22	0	76	2		0	0	0	0	0	2	1	1	84	348	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCC	4163	broad.mit.edu	37	5	112676295	112676295	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112676295G>T	ENST00000408903.3	-	3	963	c.548C>A	c.(547-549)gCt>gAt	p.A183D	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers			42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)			GTGGAGAGCAGCCTGCTGATG	0.557000																								0							SO:0001583	missense			ENST00000408903.3	0	1	hg19	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	G	4.330	0.060539	0.08339	.	.	ENSG00000171444	ENST00000408903	T	0.39229	1.09	4.2	1.36	0.22044	.	0.642545	0.12646	N	0.450843	T	0.20414	0.0491	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27706	-1.0066	9	0.12430	T	0.62	-0.0083	5.5	0.16823	0.236:0.0:0.6236:0.1404	.	183	P23508-2	.	D	183	ENSP00000386227:A183D	ENSP00000386227:A183D	A	-	2	0	MCC	112704194	0.979000	0.34478	0.000000	0.03702	0.209000	0.24338	3.270000	0.51600	0.134000	0.18681	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	0	0	0	6	287	0	52	0	1.885090e-03	0	3	0	52	2		0	0	0	0	0	2	1	9.638935e-01	6	283	0	52	2								-6.853560	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.260000	0.100000	1.000000	0.230000	0.329417	0.260000	0	1.700000e-01	4.200000e-01
MCC	4163	broad.mit.edu	37	5	112720690	112720690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112720690C>T	ENST00000408903.3	-	2	805	c.390G>A	c.(388-390)tgG>tgA	p.W130*	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers			42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)			TGCTCGTGGGCCAGGAAGCAA	0.473000																								0							SO:0001587	stop_gained			ENST00000408903.3	0	1	hg19	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	40	8.134648	0.98670	.	.	ENSG00000171444	ENST00000408903	.	.	.	4.7	4.7	0.59300	.	0.119002	0.37906	N	0.001900	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.029	17.1098	0.86672	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	ENSP00000386227:W130X	W	-	3	0	MCC	112748589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.417000	0.66423	2.542000	0.85734	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	0	0	0	10	398	0	74	0	7.833363e-04	0	2	0	74	2		0	0	0	0	0	2	1	9.965559e-01	9	389	0	74	2								-3.483807	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.300000	0.150000	1.000000	0.290000	0.364274	0.300000	0	2.200000e-01	4.400000e-01
TSSK1B	83942	broad.mit.edu	37	5	112770312	112770312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112770312G>A	ENST00000390666.3	-	1	416	c.225C>T	c.(223-225)acC>acT	p.T75T	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B			13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)			AGATCTCGTAGGTCTTAATGA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000390666.3	1	1	hg19	CCDS4112.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	1	0	0	56	238	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	56	231	0	59	2								-3.213463	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YTHDC2	64848	broad.mit.edu	37	5	112849636	112849636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112849636G>T	ENST00000161863.4	+	1	257	c.44G>T	c.(43-45)gGc>gTc	p.G15V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G15V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2			43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)			CCGGCTCCTGGCGGTGGCGGA	0.706000																								0							SO:0001583	missense			ENST00000161863.4	1	1	hg19	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	4.005	-0.001738	0.07819	.	.	ENSG00000047188	ENST00000161863;ENST00000515883	T;T	0.08102	4.12;3.13	4.23	1.2	0.21068	.	0.371841	0.19490	N	0.113018	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	10	0.51188	T	0.08	.	5.7402	0.18089	0.1115:0.3936:0.4949:0.0	.	15	Q9H6S0	YTDC2_HUMAN	V	15	ENSP00000161863:G15V;ENSP00000423101:G15V	ENSP00000161863:G15V	G	+	2	0	YTHDC2	112877535	0.976000	0.34144	0.002000	0.10522	0.004000	0.04260	2.975000	0.49281	0.308000	0.22923	-0.502000	0.04539	GGC		TCGA-IB-7651-01A-11D-2154-08	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	1	0	0	37	95	0	13	0	8.192371e-02	0	2	0	13	2		0	0	0	0	0	2	1	1	37	94	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YTHDC2	64848	broad.mit.edu	37	5	112889540	112889540	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112889540G>A	ENST00000161863.4	+	15	2254	c.2041G>A	c.(2041-2043)Gtt>Att	p.V681I	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V681I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2			43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)			ACCTGCAGGTGTTCGAAAAAT	0.284000																								0							SO:0001583	missense			ENST00000161863.4	1	1	hg19	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274031	0.23221	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.75154	-0.91;-0.91	5.51	4.52	0.55395	Helicase, C-terminal (3);	0.121117	0.52532	D	0.000061	T	0.66829	0.2829	M	0.64567	1.98	0.30228	N	0.796184	B	0.06786	0.001	B	0.12837	0.008	T	0.60439	-0.7263	10	0.35671	T	0.21	.	6.275	0.20975	0.3016:0.0:0.6984:0.0	.	681	Q9H6S0	YTDC2_HUMAN	I	681;681;591	ENSP00000161863:V681I;ENSP00000423101:V681I	ENSP00000161863:V681I	V	+	1	0	YTHDC2	112917439	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.406000	0.44557	2.572000	0.86782	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	1	0	1	63	170	0	41	1	9.861479e-01	6	15	0	41	2		0	0	0	0	0	2	1	1	62	169	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNND2	1501	broad.mit.edu	37	5	11346613	11346613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11346613G>A	ENST00000304623.8	-	9	1688	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2			136					GTAGGGGTCCGCGTAATTGGA	0.662000																								0							SO:0001583	missense			ENST00000304623.8	1	1	hg19	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529764	0.85706	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.80393	-1.22;-1.28;-1.25;-1.37;-1.26	5.8	5.8	0.92144	.	0.287190	0.32015	N	0.006716	T	0.73241	0.3562	L	0.44542	1.39	0.58432	D	0.999994	B;B;P	0.48998	0.384;0.196;0.918	B;B;B	0.33799	0.026;0.017;0.17	T	0.75365	-0.3343	10	0.39692	T	0.17	-14.6084	20.1139	0.97919	0.0:0.0:1.0:0.0	.	163;67;500	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	500;500;409;67;163	ENSP00000307134:A500V;ENSP00000352661:A500V;ENSP00000426510:A409V;ENSP00000391155:A67V;ENSP00000426887:A163V	ENSP00000307134:A500V	A	-	2	0	CTNND2	11399613	1.000000	0.71417	0.967000	0.41034	0.976000	0.68499	5.153000	0.64888	2.763000	0.94921	0.585000	0.79938	GCG		TCGA-IB-7651-01A-11D-2154-08	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	1	0	1	70	633	1	105	0	2.668995e-01	0	10	1	105	2		0	0	0	0	0	2	1	1	67	629	1	103	22								-3.017764	1	1	121412	6	39	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.900000	1.000000	1.000000	0.993908	0.990000	1	9.900000e-01	1
CTNND2	1501	broad.mit.edu	37	5	11384844	11384844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384844C>T	ENST00000304623.8	-	7	1299	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.E279E|CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2			136					TGCTGTACTGCTCGGACGCGT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000304623.8	1	1	hg19	CCDS3881.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	1	0	1	27	109	0	16	0	6.242946e-01	0	10	0	16	2		0	0	0	0	0	2	1	1	25	107	0	16	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
CTNND2	1501	broad.mit.edu	37	5	11384997	11384997	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384997G>A	ENST00000304623.8	-	7	1146	c.957C>T	c.(955-957)atC>atT	p.I319I	CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.I228I|CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000495388.2_5'Flank	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2			136					AGGACACGACGATGTTGATGG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000304623.8	1	1	hg19	CCDS3881.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	1	0	0	24	94	0	16	0	2.812342e-01	0	5	0	16	2		0	0	0	0	0	2	1	9.999998e-01	23	89	0	16	2								-17.063350	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
TRIM36	55521	broad.mit.edu	37	5	114462446	114462446	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114462446C>A	ENST00000282369.3	-	10	2062	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N|TRIM36_ENST00000513154.1_Missense_Mutation_p.K635N	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36			37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)			AAGTAGGTGACTTGGGTATAA	0.383000																								0							SO:0001583	missense			ENST00000282369.3	1	1	hg19	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860214	0.32884	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.69175	-0.38;-0.38;-0.38	5.73	3.92	0.45320	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.200438	0.51477	D	0.000087	T	0.71846	0.3388	L	0.59436	1.845	0.80722	D	1	D;P	0.58970	0.984;0.91	P;P	0.57679	0.825;0.676	T	0.67921	-0.5545	10	0.26408	T	0.33	.	11.5858	0.50918	0.0:0.8068:0.1251:0.0681	.	635;647	E9PFI8;Q9NQ86	.;TRI36_HUMAN	N	647;635;492	ENSP00000282369:K647N;ENSP00000423934:K635N;ENSP00000424259:K492N	ENSP00000282369:K647N	K	-	3	2	TRIM36	114490345	0.998000	0.40836	0.992000	0.48379	0.109000	0.19521	0.968000	0.29357	0.850000	0.35239	-0.150000	0.13652	AAG		TCGA-IB-7651-01A-11D-2154-08	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	1	0	1	60	255	0	51	1	9.716722e-02	2	1	0	51	2		0	0	0	0	0	2	1	1	59	252	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM36	55521	broad.mit.edu	37	5	114483023	114483023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114483023C>A	ENST00000282369.3	-	3	488	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.D111Y|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36			37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)			TCTCCAAGATCCACATCATGC	0.443000																								0							SO:0001583	missense			ENST00000282369.3	1	1	hg19	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508975	0.85282	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.87887	-2.31;-2.31;-2.31	5.24	5.24	0.73138	Zinc finger, RING/FYVE/PHD-type (1);	0.098563	0.64402	D	0.000002	D	0.88855	0.6550	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.947	D	0.83406	0.0025	10	0.02654	T	1	.	18.8341	0.92153	0.0:1.0:0.0:0.0	.	111;123	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	123;111;121	ENSP00000282369:D123Y;ENSP00000423934:D111Y;ENSP00000424743:D121Y	ENSP00000282369:D123Y	D	-	1	0	TRIM36	114510922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.380000	0.79704	2.418000	0.82041	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	0	0	1	130	514	0	157	0	3.514598e-01	0	6	0	157	2		0	0	0	0	0	2	1	1	128	501	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM36	55521	broad.mit.edu	37	5	114499317	114499317	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114499317C>A	ENST00000282369.3	-	2	317	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Missense_Mutation_p.D54Y|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36			37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)			TTGAATGAATCATCGAGAGTC	0.458000																								0							SO:0001583	missense			ENST00000282369.3	1	1	hg19	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415762	0.83449	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.55413	0.52;0.64;0.93	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.237750	0.42964	D	0.000625	T	0.74741	0.3756	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.979	T	0.77907	-0.2412	10	0.72032	D	0.01	.	18.9679	0.92704	0.0:1.0:0.0:0.0	.	54;66	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	66;54;54	ENSP00000282369:D66Y;ENSP00000423934:D54Y;ENSP00000424743:D54Y	ENSP00000282369:D66Y	D	-	1	0	TRIM36	114527216	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	7.348000	0.79366	2.468000	0.83385	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	1	0	1	86	374	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	84	371	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM36	55521	broad.mit.edu	37	5	114515703	114515703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114515703C>T	ENST00000282369.3	-	1	153	c.32G>A	c.(31-33)gGc>gAc	p.G11D	TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D|TRIM36_ENST00000514154.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36			37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)			CATGATGTAGCCAAATTCACT	0.557000																								0							SO:0001583	missense			ENST00000282369.3	1	1	hg19	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221520	0.58560	.	.	ENSG00000152503	ENST00000282369;ENST00000379618;ENST00000379617	T	0.54071	0.59	4.38	4.38	0.52667	.	0.224065	0.38492	N	0.001662	T	0.61489	0.2351	L	0.41824	1.3	0.25265	N	0.989568	D;D;P	0.71674	0.998;0.998;0.536	D;D;B	0.72075	0.976;0.943;0.114	T	0.53358	-0.8450	10	0.42905	T	0.14	.	12.7819	0.57483	0.0:1.0:0.0:0.0	.	11;11;11	A6NDD0;Q0P5Z9;Q9NQ86	.;.;TRI36_HUMAN	D	11	ENSP00000282369:G11D	ENSP00000282369:G11D	G	-	2	0	TRIM36	114543602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.017000	0.40981	2.136000	0.66102	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	1	0	1	113	573	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	111	565	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC112	153733	broad.mit.edu	37	5	114604698	114604698	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114604698C>A	ENST00000512261.1	-	10	1596		c.e10-1		CCDC112_ENST00000379611.5_Splice_Site|CCDC112_ENST00000395557.4_Splice_Site|CCDC112_ENST00000506442.1_Splice_Site			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112			20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)			TGTTTTCAACCTGTAATCAGA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000512261.1	1	1	hg19	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.174790	0.78452	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC112	114632597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.215000	0.72206	2.803000	0.96430	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	1	0	1	52	279	0	62	0	0	1	0	0	62	2		0	0	0	0	0	2	1	1	52	273	0	62	2								-2.701714	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC112	153733	broad.mit.edu	37	5	114605433	114605433	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114605433T>G	ENST00000512261.1	-	9	1562	c.1146A>C	c.(1144-1146)caA>caC	p.Q382H	CCDC112_ENST00000379611.5_Missense_Mutation_p.Q465H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H|CCDC112_ENST00000506442.1_Intron			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112			20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)			TTCTTTGTTTTTGTGACTTTT	0.308000																								0							SO:0001583	missense			ENST00000512261.1	1	1	hg19	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705875	0.48412	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000395557	T;T;T	0.18016	2.27;2.24;2.24	5.35	4.17	0.49024	.	0.314007	0.33180	N	0.005185	T	0.09598	0.0236	N	0.08118	0	0.25575	N	0.98685	B;B	0.20052	0.041;0.005	B;B	0.14023	0.01;0.003	T	0.22103	-1.0226	10	0.72032	D	0.01	-8.6957	11.5301	0.50604	0.1346:0.0:0.0:0.8654	.	465;382	Q8NEF3-2;Q8NEF3	.;CC112_HUMAN	H	465;382;382	ENSP00000368931:Q465H;ENSP00000423712:Q382H;ENSP00000378925:Q382H	ENSP00000368931:Q465H	Q	-	3	2	CCDC112	114633332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.247000	0.32815	0.938000	0.37419	0.528000	0.53228	CAA		TCGA-IB-7651-01A-11D-2154-08	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	1	0	1	13	60	0	19	1	9.939493e-01	19	25	0	19	2		0	0	0	0	0	2	1	9.995645e-01	13	56	0	19	2								-19.999940	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999134	0.990000	1	9.900000e-01	1
CCDC112	153733	broad.mit.edu	37	5	114611181	114611181	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114611181C>T	ENST00000512261.1	-	7	817	c.401G>A	c.(400-402)aGc>aAc	p.S134N	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Missense_Mutation_p.S217N|CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N|CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112			20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)			AGGAACTTTGCTTGAGATTGC	0.408000																								0							SO:0001583	missense			ENST00000512261.1	1	1	hg19	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831347	0.50845	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.24538	1.85;2.19;2.19;2.19	5.95	5.95	0.96441	.	0.516231	0.25114	N	0.033025	T	0.27559	0.0677	L	0.43152	1.355	0.29259	N	0.871457	P;P;P	0.38504	0.634;0.634;0.493	B;B;B	0.41894	0.369;0.369;0.206	T	0.10683	-1.0619	10	0.22109	T	0.4	-3.5344	15.6166	0.76773	0.0:0.8531:0.1469:0.0	.	134;217;134	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	N	217;134;134;134	ENSP00000368931:S217N;ENSP00000423712:S134N;ENSP00000424876:S134N;ENSP00000378925:S134N	ENSP00000368931:S217N	S	-	2	0	CCDC112	114639080	0.664000	0.27457	0.851000	0.33527	0.995000	0.86356	1.112000	0.31172	2.810000	0.96702	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	1	0	1	124	530	0	120	1	9.996105e-01	11	40	0	120	2		0	0	0	0	0	2	1	1	122	527	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC112	153733	broad.mit.edu	37	5	114615393	114615393	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114615393A>G	ENST00000512261.1	-	4	479	c.63T>C	c.(61-63)agT>agC	p.S21S	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Silent_p.S104S|CCDC112_ENST00000395557.4_Silent_p.S21S|CCDC112_ENST00000506442.1_Silent_p.S21S			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112			20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)			CTTCTAGCATACTATGCTCAA	0.294000																								0							SO:0001819	synonymous_variant			ENST00000512261.1	1	1	hg19	CCDS4117.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	1	0	1	29	137	0	36	1	9.811656e-01	7	26	0	36	2		0	0	0	0	0	2	1	1	29	136	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
TMED7	51014	broad.mit.edu	37	5	114956247	114956247	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114956247A>C	ENST00000456936.3	-	2	703	c.323T>G	c.(322-324)tTt>tGt	p.F108C	TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|AC010226.4_ENST00000515570.1_RNA|AC010226.4_ENST00000508517.1_RNA	NM_181836.5	NP_861974.1	Q9Y3B3	TMED7_HUMAN	transmembrane emp24 protein transport domain containing 7			6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)			GCTGAAGCAAAATTTGTATGT	0.353000													Pancreas(167;237 2002 3207 14549 49356)											0							SO:0001583	missense			ENST00000456936.3	1	0	hg19	CCDS4120.1	.	.	.	.	.	.	.	.	.	.	a	24.8	4.571078	0.86542	.	.	ENSG00000243414;ENSG00000251201;ENSG00000251201;ENSG00000134970	ENST00000408996;ENST00000282382;ENST00000333314;ENST00000456936	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.92	5.92	0.95590	GOLD (3);	0.097816	0.64402	D	0.000001	T	0.75867	0.3908	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.82096	-0.0626	10	0.72032	D	0.01	-15.079	15.3535	0.74409	1.0:0.0:0.0:0.0	.	108;108	Q9Y3B3;Q6JUT2	TMED7_HUMAN;.	C	108	ENSP00000386341:F108C;ENSP00000282382:F108C;ENSP00000333650:F108C;ENSP00000405926:F108C	ENSP00000405926:F108C	F	-	2	0	TMED7;TICAM2;TMED7-TICAM2	114984146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.267000	0.75376	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	TMED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254990.4	1	0	0	82	368	0	82	1	1	92	305	0	82	2		0	0	0	0	0	2	1	1	82	361	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA6A	57556	broad.mit.edu	37	5	115813812	115813812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115813812C>T	ENST00000343348.6	-	14	2253	c.1466G>A	c.(1465-1467)gGc>gAc	p.G489D	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A			31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)			CAGCTGCATGCCCATGATCCT	0.458000																								0							SO:0001583	missense			ENST00000343348.6	1	1	hg19	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.380670|4.380670	0.82792|0.82792	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000282394;ENST00000510263	.|T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09	5.98|5.98	5.98|5.98	0.97165|0.97165	.|WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	.|0.048510	.|0.85682	.|D	.|0.000000	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.66939|0.66939	2.045|2.045	0.35680|0.35680	D|D	0.814023|0.814023	.|D;P;P;B	.|0.53312	.|0.959;0.698;0.949;0.378	.|P;B;P;B	.|0.58454	.|0.839;0.305;0.79;0.138	T|T	0.50491|0.50491	-0.8822|-0.8822	5|10	.|0.87932	.|D	.|0	.|.	16.595|16.595	0.84794|0.84794	0.0:0.8699:0.1301:0.0|0.0:0.8699:0.1301:0.0	.|.	.|489;33;489;21	.|Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3	.|SEM6A_HUMAN;.;.;.	T|D	59|489;489;21;489	.|ENSP00000345512:G489D;ENSP00000257414:G489D;ENSP00000282394:G21D;ENSP00000424388:G489D	.|ENSP00000257414:G489D	A|G	-|-	1|2	0|0	SEMA6A|SEMA6A	115841711|115841711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.891000|4.891000	0.63185|0.63185	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCA|GGC		TCGA-IB-7651-01A-11D-2154-08	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	1	0	0	63	247	0	73	0	9.031239e-01	0	18	0	73	2		0	0	0	0	0	2	1	1	61	243	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA6A	57556	broad.mit.edu	37	5	115814375	115814375	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115814375C>A	ENST00000343348.6	-	13	2077	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_5'Flank|SEMA6A_ENST00000257414.8_Silent_p.G430G|SEMA6A_ENST00000510263.1_Silent_p.G430G|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A			31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)			TCTGATATGGCCCAGCAGCTG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000343348.6	1	1	hg19	CCDS47256.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	1	0	1	23	129	0	25	1	6.898347e-01	3	12	0	25	2		0	0	0	0	0	2	1	9.999996e-01	23	126	0	24	2								-13.443530	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999745	0.990000	1	9.900000e-01	1
SEMA6A	57556	broad.mit.edu	37	5	115832009	115832009	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115832009T>C	ENST00000343348.6	-	5	1067	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Splice_Site_p.K94E|SEMA6A_ENST00000510263.1_Splice_Site_p.K94E|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A			31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)			catgtcagtttctgcagggat	0.423000																								0							SO:0001630	splice_region_variant			ENST00000343348.6	1	0	hg19	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108165	0.77096	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009;ENST00000509665	T;T;T;T;T	0.29397	2.79;2.79;2.79;1.57;1.57	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.45698	1.435	0.80722	D	1	P;P	0.40266	0.71;0.662	P;B	0.47470	0.548;0.412	T	0.18650	-1.0330	10	0.72032	D	0.01	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	94;94	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	E	94	ENSP00000345512:K94E;ENSP00000257414:K94E;ENSP00000424388:K94E;ENSP00000421935:K94E;ENSP00000425553:K94E	ENSP00000257414:K94E	K	-	1	0	SEMA6A	115859908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	1	0	1	87	342	0	100	0	1.872066e-01	0	4	0	100	2		0	0	0	0	0	2	1	1	87	337	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMXL1	1657	broad.mit.edu	37	5	118469685	118469685	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118469685G>T	ENST00000311085.8	+	12	2146	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1			86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)			CAAAATAAAAGCACTGTTGAC	0.423000																								0							SO:0001583	missense			ENST00000311085.8	1	1	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	6.734	0.504230	0.12822	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01388	4.95;4.95	5.53	2.75	0.32379	WD40/YVTN repeat-like-containing domain (1);	0.491773	0.26075	N	0.026490	T	0.01592	0.0051	L	0.40543	1.245	0.25668	N	0.985924	B;B	0.27853	0.191;0.037	B;B	0.28709	0.093;0.043	T	0.46034	-0.9220	9	.	.	.	-0.7137	10.1344	0.42697	0.2742:0.0:0.7258:0.0	.	689;689	F5H269;Q9Y485	.;DMXL1_HUMAN	I	689	ENSP00000309690:S689I;ENSP00000439479:S689I	.	S	+	2	0	DMXL1	118497584	0.045000	0.20229	0.991000	0.47740	0.398000	0.30690	0.219000	0.17641	0.700000	0.31782	0.460000	0.39030	AGC		TCGA-IB-7651-01A-11D-2154-08	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	0	27	489	0	102	1	3.920939e-01	2	23	0	102	2		0	0	0	0	0	2	1	9.999999e-01	27	481	0	102	2								-5.651566	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.630000	0.420000	1.000000	0.610000	0.661418	0.630000	0	5.100000e-01	7.900000e-01
DMXL1	1657	broad.mit.edu	37	5	118484538	118484538	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118484538G>T	ENST00000311085.8	+	18	3096	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1			86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)			CAGAGTAACAGATGGAGAATC	0.383000																								0							SO:0001583	missense			ENST00000311085.8	1	1	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	4.261	0.047475	0.08243	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01422	4.91;4.91	5.5	-5.91	0.02269	.	2.186180	0.01385	N	0.013067	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.48906	-0.8993	10	0.66056	D	0.02	1.9386	3.4989	0.07665	0.3765:0.3392:0.1976:0.0868	.	1006;1006	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1006	ENSP00000309690:D1006Y;ENSP00000439479:D1006Y	ENSP00000309690:D1006Y	D	+	1	0	DMXL1	118512437	0.000000	0.05858	0.004000	0.12327	0.675000	0.39556	-0.644000	0.05415	-0.804000	0.04410	-0.878000	0.02970	GAT		TCGA-IB-7651-01A-11D-2154-08	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	1	103	452	0	101	1	9.585340e-01	2	23	0	101	2		0	0	0	0	0	2	1	1	102	445	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMXL1	1657	broad.mit.edu	37	5	118485814	118485814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118485814C>T	ENST00000311085.8	+	18	4372	c.4292C>T	c.(4291-4293)aCg>aTg	p.T1431M	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	p.T1431M(1)		86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)			AATGAGAGTACGTTAAGTAAA	0.338000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000311085.8	1	1	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	8.914	0.959535	0.18507	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10192	2.9;2.9	5.43	2.49	0.30216	.	0.861240	0.10758	N	0.637577	T	0.10423	0.0255	L	0.43152	1.355	0.09310	N	1	P;P	0.50272	0.917;0.933	B;P	0.44897	0.333;0.463	T	0.22906	-1.0203	10	0.34782	T	0.22	-0.933	4.1577	0.10268	0.2541:0.447:0.223:0.076	.	1431;1431	F5H269;Q9Y485	.;DMXL1_HUMAN	M	1431	ENSP00000309690:T1431M;ENSP00000439479:T1431M	ENSP00000309690:T1431M	T	+	2	0	DMXL1	118513713	0.001000	0.12720	0.958000	0.39756	0.802000	0.45316	0.504000	0.22626	0.760000	0.33108	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	1	92	335	0	74	1	9.972324e-01	10	25	0	74	2		0	0	0	0	0	2	1	1	91	333	0	73	2								-4.015289	1	1	121404	1	32	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMXL1	1657	broad.mit.edu	37	5	118580057	118580057	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118580057T>G	ENST00000311085.8	+	42	8725	c.8645T>G	c.(8644-8646)tTt>tGt	p.F2882C	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.F2903C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1			86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)			CTTTCAGCATTTACCTGCCAT	0.328000																								0							SO:0001583	missense			ENST00000311085.8	1	0	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733111	0.69189	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01484	4.84;4.84	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.102806	0.64402	D	0.000002	T	0.10465	0.0256	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.972;0.974	T	0.00364	-1.1787	10	0.87932	D	0	-22.8947	15.4002	0.74834	0.0:0.0:0.0:1.0	.	2903;2882	F5H269;Q9Y485	.;DMXL1_HUMAN	C	2882;2903	ENSP00000309690:F2882C;ENSP00000439479:F2903C	ENSP00000309690:F2882C	F	+	2	0	DMXL1	118607956	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.621000	0.83083	2.037000	0.60232	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	0	25	121	0	30	1	9.966446e-01	9	38	0	30	2		0	0	0	0	0	2	1	9.999999e-01	25	121	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
HSD17B4	3295	broad.mit.edu	37	5	118861665	118861665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118861665C>T	ENST00000256216.6	+	19	1760	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R525C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.R568C	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4			25		all_cancers(142;0.0206)|Prostate(80;0.0322)			TTCTGCCAGGCGTGTGTTACA	0.343000													Colon(35;490 801 34689 41394 43344)											0							SO:0001583	missense			ENST00000256216.6	1	1	hg19	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447464	0.84101	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.21	5.21	0.72293	MaoC-like dehydratase (1);	0.140082	0.64402	D	0.000005	T	0.79167	0.4400	N	0.10916	0.065	0.48696	D	0.999692	D;D;D;D;D	0.76494	0.999;0.959;0.994;0.994;0.977	P;P;B;P;B	0.60012	0.825;0.796;0.294;0.867;0.294	D	0.83981	0.0332	10	0.72032	D	0.01	-13.1573	17.5177	0.87779	0.0:1.0:0.0:0.0	.	568;525;519;281;543	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	543;525;519;568;403;406;281	ENSP00000256216:R543C;ENSP00000424613:R525C;ENSP00000424940:R519C;ENSP00000420914:R568C;ENSP00000411960:R403C;ENSP00000425993:R406C;ENSP00000426272:R281C	ENSP00000256216:R543C	R	+	1	0	HSD17B4	118889564	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.714000	0.61902	2.433000	0.82419	0.591000	0.81541	CGT		TCGA-IB-7651-01A-11D-2154-08	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	1	0	1	81	449	0	106	1	1	78	231	0	106	2		0	0	0	0	0	2	1	1	80	445	0	106	2								-20.000000	1	1	121406	1	29	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSD17B4	3295	broad.mit.edu	37	5	118867031	118867031	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118867031T>C	ENST00000256216.6	+	22	2058	c.1925T>C	c.(1924-1926)gTg>gCg	p.V642A	HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V624A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.V667A	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4			25		all_cancers(142;0.0206)|Prostate(80;0.0322)			GGGCCTGAGGTGGTGAAGAAA	0.393000													Colon(35;490 801 34689 41394 43344)											0							SO:0001583	missense			ENST00000256216.6	1	1	hg19	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584128	0.46110	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.49	4.3	0.51218	SCP2 sterol-binding domain (2);	0.123302	0.56097	D	0.000036	T	0.11495	0.0280	N	0.13352	0.335	0.39528	D	0.96862	P;B;B;B;B	0.42692	0.787;0.006;0.01;0.083;0.002	B;B;B;B;B	0.36567	0.228;0.02;0.02;0.06;0.026	T	0.12682	-1.0538	10	0.36615	T	0.2	-2.1711	10.8144	0.46567	0.142:0.0:0.0:0.858	.	667;624;618;380;642	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	A	642;624;618;667;502;505;380	ENSP00000256216:V642A;ENSP00000424613:V624A;ENSP00000424940:V618A;ENSP00000420914:V667A;ENSP00000411960:V502A;ENSP00000425993:V505A;ENSP00000426272:V380A	ENSP00000256216:V642A	V	+	2	0	HSD17B4	118894930	1.000000	0.71417	0.632000	0.29296	0.966000	0.64601	5.241000	0.65384	0.877000	0.35895	0.528000	0.53228	GTG		TCGA-IB-7651-01A-11D-2154-08	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	0	0	1	43	388	0	68	1	1	37	233	0	68	2		0	0	0	0	0	2	1	1	42	379	0	68	2								-14.675730	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.870000	1.000000	1.000000	0.991410	0.990000	1	9.900000e-01	1
PRR16	51334	broad.mit.edu	37	5	119800284	119800284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:119800284G>A	ENST00000407149.2	+	1	312	c.103G>A	c.(103-105)Gag>Aag	p.E35K	PRR16_ENST00000379551.2_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16			28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)		GATCATCGTGGAGGATTTGGA	0.602000																								0							SO:0001583	missense			ENST00000407149.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.14	2.445621	0.43429	.	.	ENSG00000184838	ENST00000407149	T	0.49720	0.77	4.57	3.62	0.41486	.	.	.	.	.	T	0.36193	0.0958	.	.	.	0.80722	D	1	B	0.25904	0.137	B	0.29942	0.109	T	0.13602	-1.0503	7	.	.	.	-8.1888	13.2731	0.60172	0.0:0.1604:0.8396:0.0	.	35	Q569H4	PRR16_HUMAN	K	35	ENSP00000385118:E35K	.	E	+	1	0	PRR16	119828183	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	4.959000	0.63666	2.253000	0.74438	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	0	0	0	8	53	0	9	0	9.660348e-01	1	42	0	9	2		0	0	0	0	0	2	1	9.910344e-01	8	53	0	9	2								-15.682450	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.740000	1.000000	1.000000	0.982456	0.990000	1	9.900000e-01	1
PRR16	51334	broad.mit.edu	37	5	120022128	120022128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:120022128C>A	ENST00000407149.2	+	2	848	c.639C>A	c.(637-639)taC>taA	p.Y213*	PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000379551.2_Nonsense_Mutation_p.Y190*|PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*			Q569H4	LARGN_HUMAN	proline rich 16			28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)		AAGTACAGTACCATGGCTATT	0.488000																								0							SO:0001587	stop_gained			ENST00000407149.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.90	3.721352	0.68959	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	.	.	.	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7253	9.7476	0.40457	0.0:0.8394:0.0:0.1606	.	.	.	.	X	213;190;143;143	.	.	Y	+	3	2	PRR16	120050027	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.677000	0.25262	1.310000	0.45006	-0.143000	0.13931	TAC		TCGA-IB-7651-01A-11D-2154-08	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	1	0	1	40	210	0	57	0	9.951932e-01	0	46	0	57	2		0	0	0	0	0	2	1	1	40	205	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FTMT	94033	broad.mit.edu	37	5	121187676	121187676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187676G>A	ENST00000321339.1	+	1	27	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial			33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		CCTGCTTCAGGCTCCTCTCCA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000321339.1	1	1	hg19	CCDS4128.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	1	0	0	85	376	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	85	375	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FTMT	94033	broad.mit.edu	37	5	121187812	121187812	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187812G>A	ENST00000321339.1	+	1	163	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial			33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		CCTGGCCGCAGCCGCCTCCTC	0.766000																								0							SO:0001583	missense			ENST00000321339.1	1	1	hg19	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599650	0.28534	.	.	ENSG00000181867	ENST00000321339	T	0.63744	-0.06	3.21	1.22	0.21188	.	.	.	.	.	T	0.38852	0.1056	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18555	-1.0333	9	0.11485	T	0.65	.	1.9809	0.03426	0.1191:0.1819:0.4801:0.2189	.	52	Q8N4E7	FTMT_HUMAN	T	52	ENSP00000313691:A52T	ENSP00000313691:A52T	A	+	1	0	FTMT	121215711	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.002000	0.13061	0.295000	0.22570	0.460000	0.39030	GCC		TCGA-IB-7651-01A-11D-2154-08	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	1	0	0	25	119	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.999999e-01	23	118	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
FTMT	94033	broad.mit.edu	37	5	121188106	121188106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121188106C>T	ENST00000321339.1	+	1	457	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial			33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		GAAGCCGGAACAGGACGACTG	0.592000																								0							SO:0001587	stop_gained			ENST00000321339.1	0	1	hg19	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352415	0.61293	.	.	ENSG00000181867	ENST00000321339	.	.	.	3.6	0.63	0.17693	.	0.436377	0.21093	N	0.080300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	5.77	0.18247	0.3134:0.5831:0.0:0.1035	.	.	.	.	X	150	.	ENSP00000313691:Q150X	Q	+	1	0	FTMT	121216005	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	0.807000	0.27140	0.104000	0.17725	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	1	0	1	66	464	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	63	458	0	109	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
SRFBP1	153443	broad.mit.edu	37	5	121362759	121362759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121362759C>T	ENST00000339397.4	+	8	1300	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 1	p.R410*(1)		15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		AAGCAGAAGGCGAAAAGAACA	0.363000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000339397.4	0	1	hg19	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	37	6.268854	0.97426	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	3.98	0.46160	.	0.060687	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7732	10.9237	0.47180	0.1307:0.8022:0.0:0.0671	.	.	.	.	X	410	.	ENSP00000341324:R410X	R	+	1	2	SRFBP1	121390658	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	3.375000	0.52410	0.785000	0.33685	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	1	0	1	39	152	0	40	1	9.963893e-01	8	29	0	40	2		0	0	0	0	0	2	1	1	38	148	0	40	2								-3.701161	1	1	120790	2	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF474	133923	broad.mit.edu	37	5	121488445	121488445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121488445C>T	ENST00000296600.4	+	2	1143	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474			21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		AAATGACCGGCTCCCTGTGGA	0.522000																								0							SO:0001583	missense			ENST00000296600.4	1	1	hg19	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002121	0.35320	.	.	ENSG00000164185	ENST00000296600	T	0.54866	0.55	5.43	5.43	0.79202	.	0.000000	0.38959	U	0.001513	T	0.67683	0.2919	M	0.81497	2.545	0.34481	D	0.703864	D	0.89917	1.0	D	0.75484	0.986	T	0.71820	-0.4477	10	0.15952	T	0.53	-14.7049	8.4188	0.32687	0.0:0.8336:0.0:0.1664	.	254	Q6S9Z5	ZN474_HUMAN	F	254	ENSP00000296600:L254F	ENSP00000296600:L254F	L	+	1	0	ZNF474	121516344	0.950000	0.32346	0.781000	0.31783	0.066000	0.16364	1.862000	0.39448	2.544000	0.85801	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	1	0	1	59	301	0	62	1	7.406958e-02	3	0	0	62	2		0	0	0	0	0	2	1	1	54	291	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNCAIP	9627	broad.mit.edu	37	5	121785597	121785597	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121785597G>A	ENST00000261368.8	+	9	1912	c.1650G>A	c.(1648-1650)caG>caA	p.Q550Q	SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.Q597Q|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.Q490Q|SNCAIP_ENST00000414317.2_Silent_p.Q152Q	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein			39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		TAGAAGCCCAGAAATCAGAGG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000261368.8	1	1	hg19	CCDS4131.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	1	0	0	132	521	0	145	0	5.715478e-01	0	9	0	145	2		0	0	0	0	0	2	1	1	127	511	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNCAIP	9627	broad.mit.edu	37	5	121786740	121786740	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786740T>G	ENST00000261368.8	+	10	2460	c.2198T>G	c.(2197-2199)tTt>tGt	p.F733C	SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.F780C|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein			39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		GGACGCAGGTTTCCTTTCAGC	0.542000																								0							SO:0001583	missense			ENST00000261368.8	1	1	hg19	CCDS4131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.74|13.74	2.327484|2.327484	0.41197|0.41197	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317|ENST00000447854	T;T;T;T;T;T;T;T|.	0.15603|.	4.27;4.81;2.47;2.41;4.8;4.74;2.41;4.48|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.052577|0.052577	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76751|0.76751	0.4031|0.4031	M|M	0.75777|0.75777	2.31|2.31	0.44587|0.44587	D|D	0.99755|0.99755	D;D;B;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.056;1.0;1.0;1.0;0.999;0.999|.	D;D;B;D;D;D;D;D|.	0.87578|.	0.998;0.998;0.117;0.964;0.998;0.964;0.994;0.921|.	T|T	0.79147|0.79147	-0.1923|-0.1923	10|7	0.87932|0.72032	D|D	0|0.01	-23.2289|-23.2289	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	673;361;335;673;367;367;780;733|.	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5|.	.;.;.;.;.;.;.;SNCAP_HUMAN|.	C|V	291;673;733;780;673;367;780;335|356	ENSP00000441681:F291C;ENSP00000422106:F673C;ENSP00000261368:F733C;ENSP00000368848:F780C;ENSP00000368851:F673C;ENSP00000368854:F367C;ENSP00000261367:F780C;ENSP00000394392:F335C|.	ENSP00000261367:F780C|ENSP00000416985:F356V	F|F	+|+	2|1	0|0	SNCAIP|SNCAIP	121814639|121814639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.291000|0.291000	0.27294|0.27294	4.731000|4.731000	0.62022|0.62022	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTT|TTC		TCGA-IB-7651-01A-11D-2154-08	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	1	0	1	54	222	0	67	0	1.029628e-01	0	3	0	67	2		0	0	0	0	0	2	1	1	53	215	0	66	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNCAIP	9627	broad.mit.edu	37	5	121786879	121786879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786879G>T	ENST00000261368.8	+	10	2599	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.Q826H|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein			39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		GTGACCCTCAGCAGCCCAGCC	0.547000																								0							SO:0001583	missense			ENST00000261368.8	1	1	hg19	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228979	0.01518	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.12672	4.47;4.99;2.7;2.66;4.99;4.98;2.66;4.69	5.87	-5.2	0.02823	.	0.665589	0.15287	N	0.270390	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.32507	0.0;0.0;0.001;0.164;0.003;0.164;0.373;0.161	B;B;B;B;B;B;B;B	0.30401	0.0;0.0;0.0;0.115;0.001;0.115;0.09;0.033	T	0.37267	-0.9713	10	0.21014	T	0.42	-0.3089	0.1661	0.00108	0.3158:0.1818:0.2432:0.2593	.	719;407;381;719;413;413;826;779	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	H	337;719;779;826;719;413;826;381	ENSP00000441681:Q337H;ENSP00000422106:Q719H;ENSP00000261368:Q779H;ENSP00000368848:Q826H;ENSP00000368851:Q719H;ENSP00000368854:Q413H;ENSP00000261367:Q826H;ENSP00000394392:Q381H	ENSP00000261367:Q826H	Q	+	3	2	SNCAIP	121814778	0.038000	0.19896	0.224000	0.23877	0.003000	0.03518	-0.023000	0.12456	-0.369000	0.08028	-1.551000	0.00897	CAG		TCGA-IB-7651-01A-11D-2154-08	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	1	0	1	52	202	0	47	0	1.111585e-01	0	3	0	47	2		0	0	0	0	0	2	1	1	52	193	0	45	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX2	6643	broad.mit.edu	37	5	122152613	122152613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122152613C>T	ENST00000379516.2	+	9	910	c.802C>T	c.(802-804)Cct>Tct	p.P268S	SNX2_ENST00000514949.1_Missense_Mutation_p.P151S|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2			19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)		ATTCCAGCTGCCTAGAGCAGT	0.488000																								0							SO:0001583	missense			ENST00000379516.2	1	1	hg19	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532860	0.85812	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.22945	2.0;1.93	5.93	5.93	0.95920	Phox homologous domain (2);	0.102077	0.64402	D	0.000001	T	0.56016	0.1957	M	0.90252	3.1	0.80722	D	1	P	0.51537	0.946	P	0.55260	0.772	T	0.63761	-0.6564	10	0.87932	D	0	-8.4387	20.3334	0.98727	0.0:1.0:0.0:0.0	.	268	O60749	SNX2_HUMAN	S	268;151	ENSP00000368831:P268S;ENSP00000421663:P151S	ENSP00000368831:P268S	P	+	1	0	SNX2	122180512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.818000	0.97014	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	1	0	0	7	115	0	29	1	9.990854e-01	8	233	0	29	2		0	0	0	0	0	2	1	9.816246e-01	7	115	0	29	2								-10.825550	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.720000	0.320000	1.000000	1.000000	0.732729	0.720000	0	4.900000e-01	1
SNX24	28966	broad.mit.edu	37	5	122337670	122337670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122337670G>T	ENST00000261369.4	+	6	598	c.413G>T	c.(412-414)aGg>aTg	p.R138M	SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M|SNX24_ENST00000506996.1_Missense_Mutation_p.R138M	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24			5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)		CTGTTCCTCAGGGATCCATAT	0.483000																								0							SO:0001583	missense			ENST00000261369.4	1	1	hg19	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878300	0.72294	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T	0.64803	-0.08;-0.12;-0.12	5.86	5.86	0.93980	.	0.038056	0.85682	D	0.000000	T	0.73125	0.3547	L	0.39397	1.21	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	P;D	0.66847	0.839;0.947	T	0.69654	-0.5087	10	0.42905	T	0.14	-16.5217	20.5632	0.99335	0.0:0.0:1.0:0.0	.	138;138	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	M	138;138;171;138	ENSP00000261369:R138M;ENSP00000424149:R138M;ENSP00000422535:R138M	ENSP00000261369:R138M	R	+	2	0	SNX24	122365569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.616000	0.90924	2.937000	0.99478	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	0	0	1	25	602	0	118	1	8.811841e-01	12	80	0	118	2		0	0	0	0	0	2	1	9.999998e-01	24	592	0	118	2								-2.396745	0	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.480000	0.310000	1.000000	0.480000	0.523724	0.480000	0	3.900000e-01	6.100000e-01
PPIC	5480	broad.mit.edu	37	5	122361664	122361664	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122361664C>A	ENST00000306442.4	-	4	441		c.e4-1			NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)			6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	L-Proline(DB00172)	ATGCTCACACCTGAGACAAAA	0.453000													Ovarian(99;690 1502 20765 45543 49568)											0							SO:0001630	splice_region_variant			ENST00000306442.4	1	1	hg19	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436279	0.96168	.	.	ENSG00000168938	ENST00000306442	.	.	.	6.02	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.403	0.74855	0.0:0.9335:0.0:0.0665	.	.	.	.	.	-1	.	.	.	-	.	.	PPIC	122389563	1.000000	0.71417	0.408000	0.26446	0.990000	0.78478	7.449000	0.80643	1.565000	0.49641	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	1	0	1	20	117	0	24	1	6.347824e-01	10	4	0	24	2		0	0	0	0	0	2	1	9.999970e-01	20	116	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999288	0.990000	1	9.900000e-01	1
CEP120	153241	broad.mit.edu	37	5	122713160	122713160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122713160G>A	ENST00000306467.5	-	16	2570	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	CEP120_ENST00000306481.6_Missense_Mutation_p.R730C|CEP120_ENST00000328236.5_Missense_Mutation_p.R756C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa			29					TTGGCCCTACGGATAGAGTCC	0.428000																								0							SO:0001583	missense			ENST00000306467.5	1	1	hg19	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392292	0.62066	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.65443	0.935	T	0.76162	-0.3060	10	0.87932	D	0	-14.5195	13.5263	0.61597	0.0:0.0:0.7276:0.2723	.	756	Q8N960	CE120_HUMAN	C	756;756;730;730	ENSP00000303058:R756C;ENSP00000327504:R756C;ENSP00000307419:R730C;ENSP00000421620:R730C	ENSP00000303058:R756C	R	-	1	0	CEP120	122741059	1.000000	0.71417	0.872000	0.34217	0.718000	0.41266	4.425000	0.59875	2.767000	0.95098	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1	131	542	0	113	1	9.999044e-01	8	49	0	113	2		0	0	0	0	0	2	1	1	129	532	0	113	2								-2.464753	0	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP120	153241	broad.mit.edu	37	5	122718760	122718760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122718760C>T	ENST00000306467.5	-	12	2084	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	CEP120_ENST00000306481.6_Missense_Mutation_p.A568T|CEP120_ENST00000328236.5_Missense_Mutation_p.A594T			Q8N960	CE120_HUMAN	centrosomal protein 120kDa			29					GAAAGATCTGCTATCCTGTTA	0.279000																								0							SO:0001583	missense			ENST00000306467.5	1	1	hg19	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099312	0.56183	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.92	3.03	0.35002	.	0.473474	0.22445	N	0.059966	T	0.46483	0.1395	M	0.66939	2.045	0.80722	D	1	B	0.32893	0.389	B	0.34824	0.19	T	0.39921	-0.9590	10	0.56958	D	0.05	-7.3561	10.6681	0.45743	0.1186:0.8029:0.0:0.0785	.	594	Q8N960	CE120_HUMAN	T	594;594;568;568	ENSP00000303058:A594T;ENSP00000327504:A594T;ENSP00000307419:A568T;ENSP00000421620:A568T	ENSP00000303058:A594T	A	-	1	0	CEP120	122746659	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	0.883000	0.28200	0.292000	0.22492	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1	22	103	0	27	1	9.994072e-01	5	55	0	27	2		0	0	0	0	0	2	1	9.999993e-01	22	101	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
CEP120	153241	broad.mit.edu	37	5	122720769	122720769	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122720769C>T	ENST00000306467.5	-	11	1943	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CEP120_ENST00000306481.6_Missense_Mutation_p.G521R|CEP120_ENST00000328236.5_Missense_Mutation_p.G547R			Q8N960	CE120_HUMAN	centrosomal protein 120kDa			29					CTCGCAATTCCCAGAAGTAAA	0.373000																								0							SO:0001583	missense			ENST00000306467.5	1	1	hg19	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047955	0.93740	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.62	5.62	0.85841	.	0.057822	0.64402	D	0.000002	D	0.88566	0.6471	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89155	0.3526	10	0.87932	D	0	-24.5401	19.6568	0.95845	0.0:1.0:0.0:0.0	.	547	Q8N960	CE120_HUMAN	R	547;547;521;521	ENSP00000303058:G547R;ENSP00000327504:G547R;ENSP00000307419:G521R;ENSP00000421620:G521R	ENSP00000303058:G547R	G	-	1	0	CEP120	122748668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.476000	0.81055	2.656000	0.90262	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1	68	248	0	58	1	9.999964e-01	16	54	0	58	2		0	0	0	0	0	2	1	1	68	244	0	58	2								-3.470858	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP120	153241	broad.mit.edu	37	5	122734865	122734865	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122734865A>C	ENST00000306467.5	-	5	881	c.577T>G	c.(577-579)Tca>Gca	p.S193A	CEP120_ENST00000306481.6_Missense_Mutation_p.S167A|CEP120_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000328236.5_Missense_Mutation_p.S193A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa			29					ATGGTCACTGACATAATAAAG	0.428000																								0							SO:0001583	missense			ENST00000306467.5	1	1	hg19	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361882	0.61403	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.52983	1.96;1.96;1.96;0.64	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.66337	-0.5949	10	0.40728	T	0.16	-15.2477	16.0663	0.80878	1.0:0.0:0.0:0.0	.	193	Q8N960	CE120_HUMAN	A	193;193;167;167;193	ENSP00000303058:S193A;ENSP00000327504:S193A;ENSP00000307419:S167A;ENSP00000421620:S167A	ENSP00000303058:S193A	S	-	1	0	CEP120	122762764	1.000000	0.71417	0.847000	0.33407	0.085000	0.17905	9.310000	0.96267	2.201000	0.70794	0.533000	0.62120	TCA		TCGA-IB-7651-01A-11D-2154-08	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1	55	311	0	96	1	9.960710e-01	3	47	0	96	2		0	0	0	0	0	2	1	1	54	307	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CEP120	153241	broad.mit.edu	37	5	122751810	122751810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122751810C>T	ENST00000306467.5	-	3	519	c.215G>A	c.(214-216)cGt>cAt	p.R72H	CEP120_ENST00000306481.6_Missense_Mutation_p.R46H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000328236.5_Missense_Mutation_p.R72H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa			29					GATAGGAGTACGCTGTAGCCT	0.338000																								0							SO:0001583	missense			ENST00000306467.5	1	1	hg19	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603365	0.87157	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.56776	1.76;1.76;1.76;0.44	5.43	5.43	0.79202	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72265	-0.4344	10	0.38643	T	0.18	-13.5642	18.3703	0.90405	0.0:1.0:0.0:0.0	.	72	Q8N960	CE120_HUMAN	H	72;72;46;46;72	ENSP00000303058:R72H;ENSP00000327504:R72H;ENSP00000307419:R46H;ENSP00000421620:R46H	ENSP00000303058:R72H	R	-	2	0	CEP120	122779709	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.807000	0.75201	2.700000	0.92200	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	1	0	1	23	126	0	18	1	9.649495e-01	8	25	0	18	2		0	0	0	0	0	2	1	9.999995e-01	23	122	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999799	0.990000	1	9.900000e-01	1
SLC6A18	348932	broad.mit.edu	37	5	1232923	1232923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1232923C>T	ENST00000324642.3	+	3	482	c.359C>T	c.(358-360)gCg>gTg	p.A120V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18			34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		ACCATCGTGGCGTGGGTGCTG	0.652000																								0							SO:0001583	missense			ENST00000324642.3	1	1	hg19	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583854	0.28268	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.79454	-1.27;-1.27	5.09	-1.09	0.09904	.	1.103530	0.06848	N	0.796804	T	0.76807	0.4039	M	0.82630	2.6	0.09310	N	1	B	0.24258	0.1	B	0.25506	0.061	T	0.65998	-0.6032	10	0.66056	D	0.02	.	5.6151	0.17426	0.0:0.4704:0.1309:0.3987	.	120	Q96N87	S6A18_HUMAN	V	120	ENSP00000323549:A120V;ENSP00000296821:A120V	ENSP00000296821:A120V	A	+	2	0	SLC6A18	1285923	0.004000	0.15560	0.002000	0.10522	0.056000	0.15407	1.822000	0.39052	-0.003000	0.14444	-0.438000	0.05819	GCG		TCGA-IB-7651-01A-11D-2154-08	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	1	0	1	101	429	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	101	420	0	91	2								-20.000000	1	1	121408	12	42	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF608	57507	broad.mit.edu	37	5	123984658	123984658	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:123984658G>T	ENST00000306315.5	-	4	1854	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608			46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)		TGGCATTGAGGCTGCCCCGCC	0.592000																								0							SO:0001583	missense			ENST00000306315.5	1	1	hg19	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158379	0.78114	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.53640	0.64;0.61	5.26	4.36	0.52297	.	0.092629	0.85682	D	0.000000	T	0.45074	0.1324	L	0.45137	1.4	0.44036	D	0.996768	P	0.44429	0.835	B	0.44224	0.444	T	0.47086	-0.9144	10	0.72032	D	0.01	-19.4122	12.8537	0.57873	0.0817:0.0:0.9183:0.0	.	473	Q9ULD9	ZN608_HUMAN	R	46;473;473;473	ENSP00000427657:S46R;ENSP00000307746:S473R	ENSP00000307746:S473R	S	-	3	2	ZNF608	124012557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.743000	0.47442	1.161000	0.42604	0.544000	0.68410	AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	1	0	1	105	485	0	115	1	7.018865e-01	3	10	0	115	2		0	0	0	0	0	2	1	1	100	473	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A18	348932	broad.mit.edu	37	5	1240706	1240706	+	Silent	SNP	C	C	T	rs149285920		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1240706C>T	ENST00000324642.3	+	7	1029	c.906C>T	c.(904-906)taC>taT	p.Y302Y	SLC6A18_ENST00000296821.4_Silent_p.Y297Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18			34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		CCTCCCTGTACGCGTCCATCG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000324642.3	1	1	hg19	CCDS3860.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	1	0	1	87	288	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	85	285	0	73	2								-20.000000	1	1	121412	2	38	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC6A18	348932	broad.mit.edu	37	5	1242833	1242833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1242833G>T	ENST00000324642.3	+	8	1109	c.986G>T	c.(985-987)aGc>aTc	p.S329I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18			34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		AACATCCTCAGCCTCATCAAC	0.587000																								0							SO:0001583	missense			ENST00000324642.3	1	1	hg19	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.306277	0.01353	.	.	ENSG00000164363	ENST00000324642	T	0.74842	-0.88	4.71	-2.25	0.06888	.	0.911571	0.09481	N	0.796400	T	0.44746	0.1308	N	0.10733	0.035	0.09310	N	1	B	0.25772	0.134	B	0.23018	0.043	T	0.21724	-1.0237	10	0.18276	T	0.48	.	1.7053	0.02881	0.1583:0.129:0.3165:0.3962	.	329	Q96N87	S6A18_HUMAN	I	329	ENSP00000323549:S329I	ENSP00000323549:S329I	S	+	2	0	SLC6A18	1295833	0.002000	0.14202	0.001000	0.08648	0.119000	0.20118	0.223000	0.17719	-0.985000	0.03503	-0.268000	0.10319	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	1	0	1	51	256	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	50	252	0	80	2								-3.175495	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TERT	7015	broad.mit.edu	37	5	1254618	1254618	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1254618T>C	ENST00000310581.5	-	15	3217	c.3160A>G	c.(3160-3162)Atg>Gtg	p.M1054V	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.M991V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase			41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	Zidovudine(DB00495)	CCCAGCGACATCCCTGGGGGA	0.687000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis															0							SO:0001583	missense	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	ENST00000310581.5	0	1	hg19	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	t	0.061	-1.224119	0.01530	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96073	-3.9;-3.8	4.28	-5.67	0.02444	.	0.735512	0.13043	N	0.418388	D	0.83238	0.5211	N	0.13352	0.335	0.20563	N	0.999882	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.75923	-0.3146	10	0.09590	T	0.72	-12.4951	2.127	0.03741	0.1326:0.3539:0.2934:0.2201	.	991;1054	O14746-3;O14746	.;TERT_HUMAN	V	1054;991	ENSP00000309572:M1054V;ENSP00000334346:M991V	ENSP00000309572:M1054V	M	-	1	0	TERT	1307618	0.000000	0.05858	0.016000	0.15963	0.115000	0.19883	-2.797000	0.00763	-0.529000	0.06358	0.397000	0.26171	ATG		TCGA-IB-7651-01A-11D-2154-08	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	0	0	0	29	109	0	28		0	0	0	0	28	2	1	1	115	514	0	555	2	1	1	29	107	0	27	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ALDH7A1	501	broad.mit.edu	37	5	125889982	125889982	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125889982G>A	ENST00000409134.3	-	13	1416	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	ALDH7A1_ENST00000447989.2_Intron|RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000553117.1_Intron	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1			16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)		CCCTTACCTTGCCCCCATAGA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000409134.3	0	1	hg19	CCDS4137.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	0	0	0	12	654	0	148	0	6.713714e-01	1	123	0	148	2		0	0	0	0	0	2	1	9.990009e-01	12	640	0	148	2								-2.487589	0	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.220000	0.110000	1.000000	0.210000	0.285150	0.220000	0	1.600000e-01	3.200000e-01
C5orf48	0	broad.mit.edu	37	5	125971724	125971724	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125971724C>T	ENST00000357147.3	+	3	209	c.196C>T	c.(196-198)Caa>Taa	p.Q66*		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN				7					TTTCTCTTAGCAAGCAGAAGT	0.403000																								0							SO:0001630	splice_region_variant			ENST00000357147.3	0	1	hg19	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942344	0.34283	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.29	2.4	0.29515	.	0.965309	0.08542	N	0.930383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.9417	11.0187	0.47705	0.3391:0.6609:0.0:0.0	.	.	.	.	X	66	.	.	Q	+	1	0	C5orf48	125999623	0.639000	0.27234	0.152000	0.22495	0.012000	0.07955	0.640000	0.24705	0.485000	0.27652	0.462000	0.41574	CAA		TCGA-IB-7651-01A-11D-2154-08	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1	0	0	0	37	872	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	1	37	844	0	160	2								-4.038233	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.490000	0.340000	1.000000	0.480000	0.528894	0.490000	0	4.100000e-01	6.000000e-01
MEGF10	84466	broad.mit.edu	37	5	126674903	126674903	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126674903A>G	ENST00000274473.6	+	4	475	c.208A>G	c.(208-210)Acg>Gcg	p.T70A	MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A|MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A|MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10			68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		GTTTAAATGCACGCGGCACAG	0.413000																								0							SO:0001583	missense			ENST00000274473.6	1	1	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619901	0.87460	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.80304	-1.36;2.6;2.6;-1.36	5.91	5.91	0.95273	EMI domain (1);	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	L	0.40543	1.245	0.80722	D	1	P;D	0.57571	0.875;0.98	P;D	0.64595	0.729;0.927	T	0.80178	-0.1490	10	0.19147	T	0.46	-9.5407	15.3262	0.74164	1.0:0.0:0.0:0.0	.	70;70	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	A	70	ENSP00000423354:T70A;ENSP00000423195:T70A;ENSP00000416284:T70A;ENSP00000274473:T70A	ENSP00000274473:T70A	T	+	1	0	MEGF10	126702802	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	9.165000	0.94761	2.269000	0.75478	0.533000	0.62120	ACG		TCGA-IB-7651-01A-11D-2154-08	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	1	0	1	77	328	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	76	324	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEGF10	84466	broad.mit.edu	37	5	126758443	126758443	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126758443C>T	ENST00000274473.6	+	14	1939	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10			68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		GGGCCATTGCCGCTGCCTCCC	0.567000																								0							SO:0001583	missense			ENST00000274473.6	1	1	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677266	0.68042	2.27E-4	0.0	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.28	5.28	0.74379	EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	L	0.51422	1.61	0.80722	D	1	B;B	0.16166	0.012;0.016	B;B	0.19946	0.005;0.027	T	0.34153	-0.9840	10	0.37606	T	0.19	-36.2978	19.2744	0.94026	0.0:1.0:0.0:0.0	.	558;558	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	558	ENSP00000423354:R558C;ENSP00000423195:R558C;ENSP00000416284:R558C;ENSP00000274473:R558C	ENSP00000274473:R558C	R	+	1	0	MEGF10	126786342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.059000	0.71133	2.636000	0.89361	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	1	0	1	34	181	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	33	178	0	35	2								-20.000000	1	1	121410	2	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
MEGF10	84466	broad.mit.edu	37	5	126771137	126771137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126771137C>T	ENST00000274473.6	+	17	2327	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10			68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		ATTGACAGATCTTGTCAGTGT	0.413000																								0							SO:0001583	missense			ENST00000274473.6	1	1	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254404	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56941	0.43;0.43	6.04	6.04	0.98038	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.77054	0.4074	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65233	0.933	T	0.78226	-0.2286	10	0.56958	D	0.05	-22.7363	20.5948	0.99439	0.0:1.0:0.0:0.0	.	687	Q96KG7	MEG10_HUMAN	F	687	ENSP00000423354:S687F;ENSP00000274473:S687F	ENSP00000274473:S687F	S	+	2	0	MEGF10	126799036	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	7.747000	0.85070	2.873000	0.98535	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	1	0	1	32	129	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	1	30	128	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRRC1	133619	broad.mit.edu	37	5	126887430	126887430	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887430T>G	ENST00000296666.8	+	9	1348	c.1160T>G	c.(1159-1161)cTg>cGg	p.L387R	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1			6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		GACTATAATCTGAGGTGGTCA	0.408000																								0							SO:0001583	missense			ENST00000296666.8	0	1	hg19	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470550	0.84533	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.77987	0.4213	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.81050	-0.1108	9	0.87932	D	0	-15.0353	14.3682	0.66820	0.0:0.0:0.0:1.0	.	387	Q96M27	PRRC1_HUMAN	R	387	.	ENSP00000296666:L387R	L	+	2	0	PRRC1	126915329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.170000	0.68504	0.455000	0.32223	CTG		TCGA-IB-7651-01A-11D-2154-08	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	0	0	0	7	294	0	46	1	9.727927e-01	5	267	0	46	2		0	0	0	0	0	2	1	9.797507e-01	7	289	0	45	2								-7.926523	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.300000	0.130000	1.000000	0.270000	0.358464	0.300000	0	2.000000e-01	4.600000e-01
PRRC1	133619	broad.mit.edu	37	5	126887437	126887437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887437G>A	ENST00000296666.8	+	9	1355	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1			6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		ATCTGAGGTGGTCAGGCCTTT	0.428000																								0							SO:0001587	stop_gained			ENST00000296666.8	0	1	hg19	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	37	6.613731	0.97705	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1058	17.8626	0.88786	0.0:0.0:1.0:0.0	.	.	.	.	X	389	.	ENSP00000296666:W389X	W	+	3	0	PRRC1	126915336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.687000	0.91594	0.557000	0.71058	TGG		TCGA-IB-7651-01A-11D-2154-08	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	1	0	1	55	242	0	46	1	1	49	211	0	46	2		0	0	0	0	0	2	1	1	54	238	0	45	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A2	6558	broad.mit.edu	37	5	127484510	127484510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127484510A>G	ENST00000262461.2	+	12	2135	c.1946A>G	c.(1945-1947)aAt>aGt	p.N649S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.N649S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2			48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GGGAAAAATAATGAACCTCTT	0.318000																								0							SO:0001583	missense			ENST00000262461.2	1	1	hg19	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357851	0.61403	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98762	-5.12;-5.12	4.8	4.8	0.61643	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.71206	2.165	0.80722	D	1	B;B	0.29378	0.204;0.243	B;B	0.31686	0.082;0.134	D	0.97767	1.0224	10	0.48119	T	0.1	.	14.7822	0.69774	1.0:0.0:0.0:0.0	.	649;649	P55011-3;P55011	.;S12A2_HUMAN	S	649	ENSP00000262461:N649S;ENSP00000340878:N649S	ENSP00000262461:N649S	N	+	2	0	SLC12A2	127512409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.142000	0.66516	0.477000	0.44152	AAT		TCGA-IB-7651-01A-11D-2154-08	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	0	0	0	16	714	0	119	1	6.967676e-01	6	102	0	119	2		0	0	0	0	0	2	1	9.999287e-01	15	710	0	119	2								-3.372441	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.270000	0.150000	1.000000	0.260000	0.326380	0.270000	0	2.000000e-01	3.600000e-01
SLC12A2	6558	broad.mit.edu	37	5	127497402	127497402	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127497402T>C	ENST00000262461.2	+	17	2715	c.2526T>C	c.(2524-2526)taT>taC	p.Y842Y	SLC12A2_ENST00000343225.4_Silent_p.Y842Y	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2			48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AAGCCAAATATCAGCGATGGC	0.353000																								0							SO:0001819	synonymous_variant			ENST00000262461.2	0	1	hg19	CCDS4144.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	0	0	1	13	61	0	15	1	9.999967e-01	36	95	0	15	2		0	0	0	0	0	2	1	9.997005e-01	13	61	0	15	2								-10.639620	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999055	0.990000	1	9.900000e-01	1
FBN2	2201	broad.mit.edu	37	5	127622437	127622437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127622437G>A	ENST00000508053.1	-	61	7959	c.6985C>T	c.(6985-6987)Cga>Tga	p.R2329*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		TCGGGCCTTCGGGCCATTCCA	0.517000																								0							SO:0001587	stop_gained			ENST00000508053.1	0	1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	50	16.171019	0.99856	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.34	4.44	0.53790	.	0.116516	0.39083	N	0.001464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5877	0.76499	0.0:0.0:0.8614:0.1386	.	.	.	.	X	2329	.	ENSP00000262464:R2329X	R	-	1	2	FBN2	127650336	0.997000	0.39634	0.992000	0.48379	0.481000	0.33189	4.601000	0.61090	1.557000	0.49525	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1	50	233	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	1	49	226	0	61	2								-2.589656	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN2	2201	broad.mit.edu	37	5	127671238	127671238	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127671238G>T	ENST00000508053.1	-	35	4730	c.3756C>A	c.(3754-3756)ggC>ggA	p.G1252G	FBN2_ENST00000262464.4_Silent_p.G1252G|FBN2_ENST00000508989.1_Silent_p.G1219G|FBN2_ENST00000507835.1_Silent_p.G102G			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		GGGTGTCACAGCCTCCGTTCA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000508053.1	1	1	hg19	CCDS34222.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	0	0	0	31	927	0	187	0	1.144641e-03	0	2	0	187	2		0	0	0	0	0	2	1	1	31	918	0	187	2								-3.547745	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.390000	0.260000	1.000000	0.380000	0.437357	0.390000	0	3.200000e-01	4.900000e-01
FBN2	2201	broad.mit.edu	37	5	127680140	127680140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127680140C>T	ENST00000508053.1	-	31	4254	c.3280G>A	c.(3280-3282)Gga>Aga	p.G1094R	FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R|FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		TTGAAGCTTCCGATTGTATTT	0.428000																								0							SO:0001583	missense			ENST00000508053.1	1	1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895790	0.52121	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99557	-6.16;-6.16;-6.16	4.54	3.68	0.42216	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000008	D	0.99704	0.9887	H	0.98178	4.165	0.80722	D	1	D;D	0.61697	0.968;0.99	P;P	0.58820	0.846;0.821	D	0.97397	0.9993	10	0.87932	D	0	.	13.6728	0.62436	0.0:0.924:0.0:0.076	.	1061;1094	D6RJI3;P35556	.;FBN2_HUMAN	R	1094;1094;1061	ENSP00000262464:G1094R;ENSP00000424571:G1094R;ENSP00000425596:G1061R	ENSP00000262464:G1094R	G	-	1	0	FBN2	127708039	1.000000	0.71417	0.942000	0.38095	0.007000	0.05969	7.607000	0.82883	1.520000	0.48965	-0.266000	0.10368	GGA		TCGA-IB-7651-01A-11D-2154-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1	109	530	0	101	0	1.393979e-01	0	4	0	101	2		0	0	0	0	0	2	1	1	107	522	0	100	2								-2.487782	0	1	121412	1	38	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN2	2201	broad.mit.edu	37	5	127705025	127705025	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127705025T>C	ENST00000508053.1	-	22	3072	c.2098A>G	c.(2098-2100)Act>Gct	p.T700A	FBN2_ENST00000262464.4_Missense_Mutation_p.T700A|FBN2_ENST00000511489.1_5'UTR|Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000508989.1_Missense_Mutation_p.T667A			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		CGCATGTGAGTATCTAAAGGA	0.468000																								0							SO:0001583	missense			ENST00000508053.1	1	1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748941	0.69533	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92647	-3.08;-3.08;-2.72	4.35	4.35	0.52113	Matrix fibril-associated (2);	0.000000	0.64402	D	0.000003	D	0.94159	0.8126	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.76494	0.999;0.984	D;D	0.70487	0.969;0.956	D	0.93537	0.6874	10	0.40728	T	0.16	.	14.5886	0.68347	0.0:0.0:0.0:1.0	.	667;700	D6RJI3;P35556	.;FBN2_HUMAN	A	700;700;667	ENSP00000262464:T700A;ENSP00000424571:T700A;ENSP00000425596:T667A	ENSP00000262464:T700A	T	-	1	0	FBN2	127732924	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.825000	0.86693	2.186000	0.69663	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1	38	150	0	34	0	2.744731e-01	0	5	0	34	2		0	0	0	0	0	2	1	1	36	142	0	33	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBN2	2201	broad.mit.edu	37	5	127872100	127872100	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127872100A>G	ENST00000508053.1	-	8	1306	c.332T>C	c.(331-333)aTt>aCt	p.I111T	FBN2_ENST00000262464.4_Missense_Mutation_p.I111T|FBN2_ENST00000508989.1_Missense_Mutation_p.I111T			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		CTCACGGACAATGCACTGGTT	0.612000																								0							SO:0001583	missense			ENST00000508053.1	1	1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067395	0.76301	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86694	-1.82;-1.82;-2.16;-0.15	5.32	5.32	0.75619	.	0.151063	0.44483	D	0.000451	D	0.90903	0.7141	M	0.65975	2.015	0.54753	D	0.999988	P;D;P;P	0.56521	0.867;0.976;0.651;0.651	B;P;B;B	0.57101	0.382;0.813;0.212;0.165	D	0.91538	0.5247	10	0.59425	D	0.04	.	15.4316	0.75105	1.0:0.0:0.0:0.0	.	111;111;111;111	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	T	111	ENSP00000262464:I111T;ENSP00000424571:I111T;ENSP00000425596:I111T;ENSP00000424753:I111T	ENSP00000262464:I111T	I	-	2	0	FBN2	127899999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.827000	0.92041	2.371000	0.80710	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1	37	117	0	30	0	0	0	1	0	30	2		0	0	0	0	0	2	1	1	37	116	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TERT	7015	broad.mit.edu	37	5	1282650	1282650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1282650C>T	ENST00000310581.5	-	3	1720	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K|TERT_ENST00000508104.2_Missense_Mutation_p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	p.E555Q(2)		41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	Zidovudine(DB00495)	CTGAGCAGCTCGACGACGTAC	0.527000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis															2	Substitution - Missense(2)						SO:0001583	missense	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	ENST00000310581.5	1	1	hg19	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342421	0.24339	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.64	3.74	0.42951	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.366373	0.30593	N	0.009285	T	0.82167	0.4978	L	0.55834	1.745	0.30140	N	0.804002	P;P;P	0.51351	0.931;0.923;0.944	B;B;P	0.46208	0.374;0.379;0.507	T	0.76405	-0.2971	10	0.11794	T	0.64	-0.2338	13.0319	0.58847	0.0:0.6773:0.3227:0.0	.	555;555;555	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	K	555	ENSP00000309572:E555K;ENSP00000296820:E555K;ENSP00000334346:E555K;ENSP00000426042:E555K	ENSP00000296820:E555K	E	-	1	0	TERT	1335650	0.268000	0.24133	0.139000	0.22197	0.043000	0.13939	0.808000	0.27154	0.889000	0.36185	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	1	0	1	66	365	0	80		0	0	0	0	80	2	1	1	213	1109	0	1221	2	1	1	64	361	0	79	2								-3.224926	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6			44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AGCCGGACTTCGTTCACGTGT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000262462.4	1	1	hg19	CCDS4145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	1	0	0	18	186	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	9.999830e-01	17	183	0	37	2								-19.999970	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.650000	1.000000	1.000000	0.944005	0.990000	1	8.400000e-01	1
SLC27A6	28965	broad.mit.edu	37	5	128326153	128326153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128326153C>A	ENST00000262462.4	+	4	1975	c.965C>A	c.(964-966)tCt>tAt	p.S322Y	SLC27A6_ENST00000506176.1_Missense_Mutation_p.S322Y|SLC27A6_ENST00000395266.1_Missense_Mutation_p.S322Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6			44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TGCAAACAATCTAAGGTAGGC	0.323000																								0							SO:0001583	missense			ENST00000262462.4	0	1	hg19	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984311	0.74474	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.155327	0.64402	D	0.000016	T	0.42877	0.1222	L	0.29908	0.895	0.40018	D	0.975374	P	0.35226	0.491	P	0.45558	0.485	T	0.19484	-1.0304	9	.	.	.	-4.9328	18.732	0.91738	0.0:1.0:0.0:0.0	.	322	Q9Y2P4	S27A6_HUMAN	Y	141;322;322;322	ENSP00000421759:S141Y;ENSP00000262462:S322Y;ENSP00000378684:S322Y;ENSP00000421024:S322Y	.	S	+	2	0	SLC27A6	128354052	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.230000	0.78097	2.835000	0.97688	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	0	0	0	11	199	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.981479e-01	10	193	0	40	2								-13.947010	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.650000	0.340000	1.000000	1.000000	0.677174	0.650000	0	4.700000e-01	9.100000e-01
ADAMTS19	171019	broad.mit.edu	37	5	129019923	129019923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129019923G>A	ENST00000274487.4	+	18	2902	c.2757G>A	c.(2755-2757)tgG>tgA	p.W919*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19			91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TCTTCATGTGGACACACACAA	0.423000																								0							SO:0001587	stop_gained			ENST00000274487.4	0	1	hg19	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	41	8.818119	0.98966	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	.	W	+	3	0	ADAMTS19	129047822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.301000	0.89951	2.821000	0.97095	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	1	0	1	77	335	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	77	331	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS19	171019	broad.mit.edu	37	5	129030537	129030537	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129030537A>C	ENST00000274487.4	+	19	3070	c.2925A>C	c.(2923-2925)ccA>ccC	p.P975P	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19			91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		ATGAGCAACCATGTCAAACAA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000274487.4	1	1	hg19	CCDS4146.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	0	1	105	403	1	137		0	0	0	1	137	2		0	0	0	0	0	2	1	1	104	398	1	136	14								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHSY3	337876	broad.mit.edu	37	5	129244046	129244046	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129244046C>A	ENST00000305031.4	+	2	1437	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y	CTC-575N7.1_ENST00000503616.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3			28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TGTGTCTGGTCTTACGAGGTA	0.428000																								0							SO:0001583	missense			ENST00000305031.4	1	1	hg19	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399658	0.83120	.	.	ENSG00000198108	ENST00000305031	D	0.85013	-1.93	4.22	4.22	0.49857	.	0.205916	0.24662	N	0.036634	D	0.89511	0.6736	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.53722	0.733	D	0.89718	0.3917	9	.	.	.	0.0434	17.8917	0.88874	0.0:1.0:0.0:0.0	.	360	Q70JA7	CHSS3_HUMAN	Y	360	ENSP00000302629:S360Y	.	S	+	2	0	CHSY3	129271945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.609000	0.82925	2.645000	0.89757	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	1	0	1	47	188	0	45	0	9.127796e-01	0	19	0	45	2		0	0	0	0	0	2	1	1	45	185	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHSY3	337876	broad.mit.edu	37	5	129521060	129521060	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129521060A>G	ENST00000305031.4	+	3	2583	c.2225A>G	c.(2224-2226)tAc>tGc	p.Y742C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3			28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CAACAGGTGTACTATCCCATC	0.398000																								0							SO:0001583	missense			ENST00000305031.4	1	1	hg19	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932410	0.52866	.	.	ENSG00000198108	ENST00000305031	T	0.26957	1.7	4.33	4.33	0.51752	.	0.000000	0.48286	D	0.000198	T	0.56601	0.1996	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65565	-0.6137	9	.	.	.	-3.2014	14.5729	0.68224	1.0:0.0:0.0:0.0	.	742	Q70JA7	CHSS3_HUMAN	C	742	ENSP00000302629:Y742C	.	Y	+	2	0	CHSY3	129548959	1.000000	0.71417	0.977000	0.42913	0.913000	0.54294	9.087000	0.94110	2.171000	0.68590	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	1	0	1	110	445	0	116	0	8.266719e-01	0	15	0	116	2		0	0	0	0	0	2	1	1	107	439	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42SE2	56990	broad.mit.edu	37	5	130721245	130721245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130721245C>T	ENST00000505065.1	+	4	585	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W|CDC42SE2_ENST00000503291.1_5'UTR|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2			3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		GAAAAGGCGACGGCGGATTGA	0.373000																								0							SO:0001583	missense			ENST00000505065.1	1	1	hg19	CCDS34224.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063430	0.55432	.	.	ENSG00000158985	ENST00000395246;ENST00000360515;ENST00000505065	.	.	.	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000011	T	0.62319	0.2418	.	.	.	0.48632	D	0.999688	D	0.64830	0.994	P	0.52066	0.689	T	0.65129	-0.6243	8	0.66056	D	0.02	-46.6221	10.266	0.43455	0.1969:0.8031:0.0:0.0	.	22	Q9NRR3	C42S2_HUMAN	W	22	.	ENSP00000353706:R22W	R	+	1	2	CDC42SE2	130749144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.663000	0.46774	2.797000	0.96272	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	1	0	1	72	321	0	80	1	1	77	187	0	80	2		0	0	0	0	0	2	1	1	70	318	0	79	2								-2.747294	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC42SE2	56990	broad.mit.edu	37	5	130726743	130726743	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130726743G>A	ENST00000505065.1	+	5	735	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T|CDC42SE2_ENST00000503291.1_Missense_Mutation_p.A45T|CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2			3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TGGAATGCCTGCCAATGTCCA	0.498000																								0							SO:0001583	missense			ENST00000505065.1	1	1	hg19	CCDS34224.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271740	0.40194	.	.	ENSG00000158985	ENST00000395246;ENST00000503291;ENST00000360515;ENST00000505065	.	.	.	5.32	3.43	0.39272	.	0.147481	0.46758	N	0.000267	T	0.34483	0.0899	.	.	.	0.35614	D	0.808895	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	8	0.22706	T	0.39	-11.125	8.3657	0.32385	0.0841:0.0:0.7605:0.1553	.	72	Q9NRR3	C42S2_HUMAN	T	72;45;72;72	.	ENSP00000353706:A72T	A	+	1	0	CDC42SE2	130754642	1.000000	0.71417	0.717000	0.30585	0.628000	0.37860	4.504000	0.60414	1.630000	0.50440	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	1	0	0	20	424	0	89	1	9.998489e-01	15	287	0	89	2		0	0	0	0	0	2	1	9.999951e-01	19	421	0	89	2								-3.115631	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.550000	0.340000	1.000000	0.520000	0.584846	0.550000	0	4.300000e-01	7.100000e-01
RAPGEF6	51735	broad.mit.edu	37	5	130766994	130766994	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130766994C>T	ENST00000509018.1	-	26	4228	c.4023G>A	c.(4021-4023)tcG>tcA	p.S1341S	CTC-432M15.3_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6			31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TGCTCACAGACGATGAGACAG	0.423000													Melanoma(168;435 1955 13113 13877 23213)											0							SO:0001819	synonymous_variant			ENST00000509018.1	0	1	hg19	CCDS34225.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	1	0	1	71	303	0	59	1	9.466753e-01	3	20	0	59	2		0	0	0	0	0	2	1	1	71	295	0	59	2								-20.000000	1	0	121406	1	38	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF6	51735	broad.mit.edu	37	5	130788766	130788766	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130788766C>A	ENST00000509018.1	-	21	3386	c.3181G>T	c.(3181-3183)Gct>Tct	p.A1061S	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6			31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AACATCATAGCTGGGTCCATG	0.343000													Melanoma(168;435 1955 13113 13877 23213)											0							SO:0001583	missense			ENST00000509018.1	1	1	hg19	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536943	0.85812	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.29142	1.83;1.69;1.69;1.78;1.58;1.61;1.92	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.35341	1.055	0.80722	D	1	P;B;D;D;D;D;B	0.89917	0.942;0.23;0.966;1.0;1.0;0.999;0.119	P;B;P;D;D;D;B	0.87578	0.816;0.168;0.832;0.997;0.998;0.993;0.168	T	0.35871	-0.9771	10	0.41790	T	0.15	.	18.5281	0.90980	0.0:1.0:0.0:0.0	.	1061;1061;1061;776;1111;1066;1061	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	S	1061;1066;1061;1061;1066;776;1061;1111	ENSP00000421684:A1061S;ENSP00000309298:A1066S;ENSP00000426081:A1061S;ENSP00000296859:A1061S;ENSP00000426910:A776S;ENSP00000311419:A1061S;ENSP00000426948:A1111S	ENSP00000426948:A1111S	A	-	1	0	RAPGEF6;FNIP1	130816665	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.814000	0.86154	2.460000	0.83146	0.467000	0.42956	GCT		TCGA-IB-7651-01A-11D-2154-08	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	1	0	1	65	343	0	81	0	6.795312e-01	0	14	0	81	2		0	0	0	0	0	2	1	1	65	336	0	81	2								-3.327490	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF6	51735	broad.mit.edu	37	5	130840413	130840413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130840413G>A	ENST00000509018.1	-	11	1365	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6			31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AACTTTATGGGTATTTTTTTC	0.418000													Melanoma(168;435 1955 13113 13877 23213)											0							SO:0001583	missense			ENST00000509018.1	0	1	hg19	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381312	0.42207	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.0	5.0	0.66597	Ras guanine nucleotide exchange factor, domain (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;P;B	0.36378	0.415;0.059;0.194;0.123;0.435;0.55;0.063	B;B;B;B;B;B;B	0.41988	0.081;0.031;0.143;0.1;0.157;0.372;0.1	T	0.03981	-1.0987	10	0.28530	T	0.3	.	18.2856	0.90113	0.0:0.0:1.0:0.0	.	387;387;387;102;437;387;387	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	I	387;387;387;387;387;102;387;387;437	ENSP00000421684:T387I;ENSP00000309298:T387I;ENSP00000426081:T387I;ENSP00000296859:T387I;ENSP00000426910:T102I;ENSP00000311419:T387I;ENSP00000425389:T387I;ENSP00000426948:T437I	ENSP00000426948:T437I	T	-	2	0	RAPGEF6;FNIP1	130868312	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.785000	0.68998	2.324000	0.78689	0.313000	0.20887	ACC		TCGA-IB-7651-01A-11D-2154-08	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	1	0	1	92	304	0	73	0	8.395809e-01	1	12	0	73	2		0	0	0	0	0	2	1	1	90	301	1	73	18								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF6	51735	broad.mit.edu	37	5	130928115	130928115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130928115G>A	ENST00000509018.1	-	4	447	c.242C>T	c.(241-243)tCt>tTt	p.S81F	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S131F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6			31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CACAAGCACAGATCCAGAAAG	0.353000													Melanoma(168;435 1955 13113 13877 23213)											0							SO:0001583	missense			ENST00000509018.1	1	1	hg19	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163123	0.78226	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000011	T	0.50973	0.1647	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.999;0.972	T	0.59172	-0.7504	10	0.87932	D	0	.	16.8241	0.85926	0.0:0.0:1.0:0.0	.	81;81;81;131;81;81	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	F	81;81;81;81;81;81;81;131	ENSP00000421684:S81F;ENSP00000309298:S81F;ENSP00000426081:S81F;ENSP00000296859:S81F;ENSP00000311419:S81F;ENSP00000425389:S81F;ENSP00000426948:S131F	ENSP00000426948:S131F	S	-	2	0	RAPGEF6;FNIP1	130956014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.920000	0.70017	2.317000	0.78254	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	1	0	1	26	183	0	40	0	5.439794e-01	0	14	0	40	2		0	0	0	0	0	2	1	9.999999e-01	26	180	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.998307	0.990000	1	9.900000e-01	1
FNIP1	96459	broad.mit.edu	37	5	131066680	131066680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131066680T>C	ENST00000510461.1	-	3	366	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000307968.7_Missense_Mutation_p.K91E|FNIP1_ENST00000307954.8_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1			34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CCTCCAGGTTTCAGTTGGCAG	0.373000																								0							SO:0001583	missense			ENST00000510461.1	1	1	hg19	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877420	0.51801	.	.	ENSG00000217128	ENST00000307968;ENST00000510461;ENST00000511848	T;T;T	0.43294	0.95;0.95;0.95	5.27	5.27	0.74061	.	.	.	.	.	T	0.31295	0.0792	L	0.29908	0.895	0.42460	D	0.992788	B;P;B	0.41848	0.25;0.763;0.336	B;B;B	0.36464	0.117;0.225;0.138	T	0.09207	-1.0685	9	0.30854	T	0.27	-6.0328	15.4806	0.75524	0.0:0.0:0.0:1.0	.	91;91;91	Q8TF40-2;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	E	91	ENSP00000309266:K91E;ENSP00000421985:K91E;ENSP00000425619:K91E	ENSP00000309266:K91E	K	-	1	0	FNIP1	131094579	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.769000	0.68865	2.124000	0.65301	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	1	0	1	68	299	0	63	1	9.994084e-01	11	40	0	63	2		0	0	0	0	0	2	1	1	66	292	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FNIP1	96459	broad.mit.edu	37	5	131080272	131080272	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131080272C>A	ENST00000510461.1	-	2	299	c.204G>T	c.(202-204)gaG>gaT	p.E68D	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E68D|FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D|FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D|FNIP1_ENST00000307954.8_Missense_Mutation_p.E68D	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1			34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CTGATATGTCCTCATTTCTTC	0.363000																								0							SO:0001583	missense			ENST00000510461.1	1	0	hg19	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062649	0.36373	.	.	ENSG00000217128	ENST00000514667;ENST00000307968;ENST00000307954;ENST00000510461;ENST00000511848	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.88	1.64	0.23874	.	.	.	.	.	T	0.16300	0.0392	N	0.03948	-0.315	0.43819	D	0.99638	B;B;B;B;B	0.30563	0.096;0.011;0.037;0.285;0.0	B;B;B;B;B	0.28553	0.038;0.016;0.024;0.091;0.0	T	0.05683	-1.0870	9	0.21540	T	0.41	-8.4916	6.2545	0.20865	0.1222:0.5277:0.0:0.3501	.	68;68;68;68;68	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40;E9PCH4	.;.;.;FNIP1_HUMAN;.	D	68	ENSP00000426948:E68D;ENSP00000309266:E68D;ENSP00000310453:E68D;ENSP00000421985:E68D;ENSP00000425619:E68D	ENSP00000310453:E68D	E	-	3	2	FNIP1	131108171	0.571000	0.26659	1.000000	0.80357	0.986000	0.74619	-0.326000	0.07965	0.396000	0.25283	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	1	0	1	74	355	0	68	1	9.633837e-01	8	20	0	68	2		0	0	0	0	0	2	1	1	74	345	0	68	2								-3.054429	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACSL6	23305	broad.mit.edu	37	5	131305833	131305833	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131305833C>T	ENST00000379240.1	-	15	1573	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379264.2_Missense_Mutation_p.D499N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	p.D499Y(2)		35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		GAGGTCCAGTCGCCAGGAGTG	0.498000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000379240.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.275160	0.95459	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.42	5.42	0.78866	AMP-dependent synthetase/ligase (1);	0.089346	0.85682	D	0.000000	T	0.64897	0.2640	M	0.84683	2.71	0.80722	D	1	P;D;D;P;D;D;D	0.61080	0.708;0.986;0.989;0.752;0.961;0.961;0.961	B;P;P;P;P;P;P	0.55508	0.401;0.534;0.777;0.537;0.534;0.534;0.534	T	0.71464	-0.4585	10	0.72032	D	0.01	.	19.2739	0.94023	0.0:1.0:0.0:0.0	.	474;489;464;474;399;499;499	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	N	474;499;489;399;399;499;485;474;383;474;454;474	ENSP00000368551:D474N;ENSP00000368566:D499N;ENSP00000368574:D489N;ENSP00000349608:D399N;ENSP00000368557:D399N;ENSP00000296869:D499N;ENSP00000368548:D485N;ENSP00000368546:D474N;ENSP00000445154:D383N;ENSP00000368542:D474N;ENSP00000413329:D454N;ENSP00000442124:D474N	ENSP00000296869:D499N	D	-	1	0	ACSL6	131333732	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.792000	0.85828	2.575000	0.86900	0.644000	0.83932	GAC		TCGA-IB-7651-01A-11D-2154-08	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	0	0	0	22	717	0	160	0	1.001259e-03	0	2	0	160	2		0	0	0	0	0	2	1	9.999983e-01	22	699	0	156	2								-2.825959	1	1	121412	2	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.360000	0.220000	1.000000	0.350000	0.411768	0.360000	0	2.800000e-01	4.700000e-01
ACSL6	23305	broad.mit.edu	37	5	131329877	131329877	+	Silent	SNP	C	C	T	rs17854460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131329877C>T	ENST00000379240.1	-	2	195	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000543479.1_Silent_p.E14E|ACSL6_ENST00000379264.2_Silent_p.E39E|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000431707.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000379246.1_Silent_p.E25E|ACSL6_ENST00000379255.1_Silent_p.E14E			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6			35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AGTCACCTAGCTCAGGCAGTC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000379240.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	1	0	1	37	147	0	49	0	4.260825e-02	0	2	0	49	2		0	0	0	0	0	2	1	1	37	146	0	49	2								-20.000000	1	1	121412	5	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P4HA2	8974	broad.mit.edu	37	5	131546055	131546055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131546055C>T	ENST00000401867.1	-	7	1199	c.631G>A	c.(631-633)Gac>Aac	p.D211N	P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N|P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II			24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	L-Proline(DB00172)|Succinic acid(DB00139)	CTGAGGTAGTCCAGCACCTGT	0.567000													Esophageal Squamous(68;117 1135 17362 19256 34242)											0							SO:0001583	missense			ENST00000401867.1	1	1	hg19	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842700	0.97016	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.81;0.8;0.81;0.8;0.81;0.8	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.77112	-0.2708	10	0.87932	D	0	-0.8403	20.3151	0.98650	0.0:1.0:0.0:0.0	.	211;211	O15460;O15460-2	P4HA2_HUMAN;.	N	211	ENSP00000384999:D211N;ENSP00000368379:D211N;ENSP00000166534:D211N;ENSP00000353772:D211N;ENSP00000368398:D211N;ENSP00000368394:D211N	ENSP00000166534:D211N	D	-	1	0	P4HA2	131573954	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.776000	0.85560	2.809000	0.96659	0.467000	0.42956	GAC		TCGA-IB-7651-01A-11D-2154-08	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	1	0	1	126	674	0	175	1	1	147	404	0	175	2		0	0	0	0	0	2	1	1	123	667	0	172	2								-3.222373	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC22A4	6583	broad.mit.edu	37	5	131667484	131667484	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131667484T>G	ENST00000200652.3	+	6	1161	c.987T>G	c.(985-987)atT>atG	p.I329M	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4			16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AAGCTTTCATTCTGGACCTGT	0.398000																								0							SO:0001583	missense			ENST00000200652.3	1	1	hg19	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440925	0.25900	.	.	ENSG00000197208	ENST00000200652	T	0.74947	-0.89	5.86	-0.898	0.10550	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.307285	0.39834	N	0.001253	T	0.72407	0.3456	M	0.71581	2.175	0.36416	D	0.864046	B	0.32467	0.372	B	0.39771	0.309	T	0.70498	-0.4855	10	0.35671	T	0.21	.	11.4059	0.49898	0.0:0.3915:0.0:0.6085	.	329	Q9H015	S22A4_HUMAN	M	329	ENSP00000200652:I329M	ENSP00000200652:I329M	I	+	3	3	SLC22A4	131695383	0.990000	0.36364	0.992000	0.48379	0.179000	0.23085	0.358000	0.20216	-0.096000	0.12329	-0.290000	0.09829	ATT		TCGA-IB-7651-01A-11D-2154-08	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	1	0	1	116	466	0	123	1	9.396721e-01	6	15	0	123	2		0	0	0	0	0	2	1	1	114	463	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC22A5	6584	broad.mit.edu	37	5	131726498	131726498	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131726498C>A	ENST00000245407.3	+	7	1390	c.1169C>A	c.(1168-1170)gCc>gAc	p.A390D	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5			8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TATGTGTTGGCCTGGCTGCTG	0.537000																								0							SO:0001583	missense			ENST00000245407.3	1	1	hg19	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423802	0.83667	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.79554	-1.28;-1.28	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.202170	0.52532	D	0.000065	D	0.89128	0.6627	M	0.90542	3.125	0.49130	D	0.999754	P;P	0.49447	0.924;0.872	P;P	0.49597	0.616;0.616	D	0.89610	0.3841	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;390	A2Q0V1;O76082	.;S22A5_HUMAN	D	390;414	ENSP00000245407:A390D;ENSP00000402760:A414D	ENSP00000245407:A390D	A	+	2	0	SLC22A5	131754397	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	1	0	1	75	334	0	90	1	9.831958e-01	7	24	0	90	2		0	0	0	0	0	2	1	1	75	328	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF1	3659	broad.mit.edu	37	5	131820175	131820175	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131820175C>T	ENST00000245414.4	-	9	990	c.732G>A	c.(730-732)tcG>tcA	p.S244S	IRF1_ENST00000405885.2_Silent_p.S244S|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1			11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		GCTGCCACTCCGACTGCTCCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000245414.4	1	1	hg19	CCDS4155.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	1	0	1	95	512	0	150	1	1	83	205	0	150	2		0	0	0	0	0	2	1	1	94	504	0	146	2								-2.417146	0	1	121412	3	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF1	3659	broad.mit.edu	37	5	131821409	131821409	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131821409C>T	ENST00000245414.4	-	8	926		c.e8-1		IRF1_ENST00000405885.2_Splice_Site|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1			11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TCTGTTGTAGCTGTGGATGGG	0.537000																								0							SO:0001630	splice_region_variant			ENST00000245414.4	1	1	hg19	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609289	0.66558	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3525	0.43945	0.0:0.907:0.0:0.093	.	.	.	.	.	-1	.	.	.	-	.	.	IRF1	131849308	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.691000	0.37721	2.826000	0.97356	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	1	0	1	52	311	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	50	307	0	77	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
SEPT8	23176	broad.mit.edu	37	5	132097246	132097246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132097246C>T	ENST00000378719.2	-	7	1103	c.866G>A	c.(865-867)cGc>cAc	p.R289H	SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000296873.7_Missense_Mutation_p.R289H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8		SEPT8/AFF4(2)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		GGTCTGCTCGCGGAGGTCTTC	0.587000																								0							SO:0001583	missense			ENST00000378719.2	1	1	hg19	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514590	0.85389	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.28	3.49	0.39957	.	0.053680	0.64402	D	0.000001	D	0.91942	0.7448	M	0.92268	3.29	0.51767	D	0.999931	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.996;1.0	D	0.91599	0.5293	10	0.87932	D	0	.	9.9392	0.41570	0.1392:0.7891:0.0:0.0717	.	287;287;289;289	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	H	289;287;289;229;289;229;287;289	ENSP00000367991:R289H;ENSP00000367993:R287H;ENSP00000296873:R289H;ENSP00000399840:R229H;ENSP00000367978:R289H;ENSP00000367971:R229H;ENSP00000367973:R287H;ENSP00000394766:R289H	ENSP00000296873:R289H	R	-	2	0	SEPT8	132125145	1.000000	0.71417	0.546000	0.28166	0.863000	0.49368	6.089000	0.71384	0.606000	0.29965	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	1	0	1	69	291	0	64	1	1	48	282	0	64	2		0	0	0	0	0	2	1	1	67	289	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHROOM1	134549	broad.mit.edu	37	5	132160428	132160428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160428C>A	ENST00000378679.3	-	6	1924	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*|SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1			17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		ATGCAGGTCTCTGAGACCCTC	0.582000																								0							SO:0001587	stop_gained			ENST00000378679.3	0	1	hg19	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010848	0.93346	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	.	.	.	3.49	2.58	0.30949	.	1.873330	0.02512	N	0.091585	.	.	.	.	.	.	0.29218	N	0.874146	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.639	6.0514	0.19787	0.0:0.8501:0.0:0.1499	.	.	.	.	X	374	.	ENSP00000324245:E374X	E	-	1	0	SHROOM1	132188327	0.001000	0.12720	0.297000	0.24988	0.651000	0.38670	0.293000	0.19029	0.986000	0.38683	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	1	0	0	20	477	0	94	0	2.981826e-01	1	25	0	94	2		0	0	0	0	0	2	1	9.999944e-01	19	468	0	92	2								-3.353752	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.490000	0.300000	1.000000	0.480000	0.530993	0.490000	0	3.800000e-01	6.400000e-01
SHROOM1	134549	broad.mit.edu	37	5	132160764	132160764	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160764G>A	ENST00000378679.3	-	5	1784	c.980C>T	c.(979-981)gCt>gTt	p.A327V	SHROOM1_ENST00000319854.3_Splice_Site_p.A327V|SHROOM1_ENST00000378676.1_Splice_Site_p.A327V|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1			17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TTGGGGAACAGCCTGGAAGGG	0.532000																								0							SO:0001630	splice_region_variant			ENST00000378679.3	0	1	hg19	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672525	0.29693	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.27890	1.64;1.64;1.64	4.64	1.7	0.24286	.	1.006700	0.07999	N	0.988432	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	B;B	0.26602	0.154;0.096	B;B	0.27262	0.078;0.036	T	0.31251	-0.9950	10	0.30854	T	0.27	-2.3592	4.3089	0.10960	0.2093:0.1905:0.6002:0.0	.	327;327	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	V	327	ENSP00000367950:A327V;ENSP00000324245:A327V;ENSP00000367947:A327V	ENSP00000324245:A327V	A	-	2	0	SHROOM1	132188663	0.463000	0.25799	0.782000	0.31804	0.183000	0.23260	0.542000	0.23222	0.562000	0.29204	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	0	0	0	13	417	0	87	0	5.401805e-01	0	57	0	87	2		0	0	0	0	0	2	1	9.994807e-01	12	409	0	87	2								-3.520350	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.370000	0.200000	1.000000	0.360000	0.425101	0.370000	0	2.800000e-01	5.200000e-01
SHROOM1	134549	broad.mit.edu	37	5	132160909	132160909	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160909T>C	ENST00000378679.3	-	4	1728	c.924A>G	c.(922-924)tcA>tcG	p.S308S	SHROOM1_ENST00000319854.3_Silent_p.S308S|SHROOM1_ENST00000378676.1_Silent_p.S308S|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1			17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AGACTTCGCCTGAAGCGCTCC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000378679.3	1	1	hg19	CCDS54902.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	1	0	1	37	153	0	37	1	9.986004e-01	16	29	0	37	2		0	0	0	0	0	2	1	1	36	148	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GDF9	2661	broad.mit.edu	37	5	132197621	132197621	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132197621T>C	ENST00000378673.2	-	3	1891	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9			22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TTGTCTGAAGTATTCACTCAG	0.483000																								0							SO:0001583	missense			ENST00000378673.2	1	1	hg19	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319266	0.60524	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.81163	-1.46;-1.46	6.13	6.13	0.99165	Transforming growth factor-beta, C-terminal (1);	0.122391	0.56097	D	0.000021	D	0.90672	0.7074	M	0.86178	2.8	0.51012	D	0.999901	D	0.89917	1.0	D	0.77557	0.99	D	0.91699	0.5372	10	0.66056	D	0.02	.	16.4513	0.83991	0.0:0.0:0.0:1.0	.	342	O60383	GDF9_HUMAN	C	342	ENSP00000367942:Y342C;ENSP00000296875:Y342C	ENSP00000296875:Y342C	Y	-	2	0	GDF9	132225520	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	5.434000	0.66526	2.364000	0.80123	0.524000	0.50904	TAC		TCGA-IB-7651-01A-11D-2154-08	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	1	0	1	70	324	0	92	0	3.251660e-02	0	2	0	92	2		0	0	0	0	0	2	1	1	70	321	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC10	54819	broad.mit.edu	37	5	132334384	132334384	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132334384G>T	ENST00000509437.1	-	5	477	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S121Y|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.S135Y|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10			1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		ggaggaggaagaggttgtgga	0.488000																								0							SO:0001583	missense			ENST00000509437.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.00	1.511396	0.27036	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848	.	.	.	4.82	2.98	0.34508	.	0.521196	0.19466	N	0.113573	T	0.63510	0.2517	.	.	.	0.80722	D	1	P;P;P	0.47191	0.729;0.826;0.891	B;B;P	0.47705	0.431;0.365;0.555	T	0.68002	-0.5524	8	0.87932	D	0	.	14.731	0.69383	0.0:0.276:0.724:0.0	.	121;157;135	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	Y	135;151;157;121	.	ENSP00000324274:S135Y	S	-	2	0	ZCCHC10	132362283	1.000000	0.71417	0.435000	0.26784	0.442000	0.32017	6.371000	0.73119	0.534000	0.28695	-0.300000	0.09419	TCT		TCGA-IB-7651-01A-11D-2154-08	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	0	0	0	11	289	0	56	1	9.057496e-01	9	102	0	56	2		0	0	0	0	0	2	1	9.981923e-01	10	283	0	56	2								-12.275550	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.450000	0.230000	1.000000	0.440000	0.502703	0.450000	0	3.300000e-01	6.400000e-01
VDAC1	7416	broad.mit.edu	37	5	133326749	133326749	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133326749T>C	ENST00000265333.3	-	4	458	c.214A>G	c.(214-216)Aca>Gca	p.T72A	VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1			4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)	Dihydroxyaluminium(DB01375)	CATTTCTCTGTAAACGTCAGG	0.458000													NSCLC(127;1776 1806 35523 41489 48154)											0							SO:0001583	missense			ENST00000265333.3	1	1	hg19	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303855	0.81136	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.91	5.91	0.95273	.	0.044704	0.85682	D	0.000000	T	0.65133	0.2662	M	0.89715	3.055	0.80722	D	1	B	0.23058	0.079	B	0.37015	0.239	T	0.67760	-0.5587	10	0.72032	D	0.01	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	72	P21796	VDAC1_HUMAN	A	72	ENSP00000265333:T72A;ENSP00000378484:T72A;ENSP00000378487:T72A;ENSP00000390129:T72A	ENSP00000265333:T72A	T	-	1	0	VDAC1	133354648	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	7.970000	0.88000	2.254000	0.74563	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1	1	0	1	176	714	0	133	1	1	532	966	0	133	2		0	0	0	0	0	2	1	1	171	699	0	130	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF7	6932	broad.mit.edu	37	5	133473798	133473798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133473798G>A	ENST00000321584.4	+	4	686	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K|TCF7_ENST00000395029.1_Missense_Mutation_p.E164K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	p.E164K(2)		12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CTCTCTCTACGAACATTTCAA	0.592000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000321584.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.57	3.653312	0.67472	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037	D;D;D;D;D;D;D;D;D;D;T	0.99282	-5.68;-5.65;-5.66;-5.67;-5.67;-5.59;-5.61;-5.64;-5.6;-5.64;0.7	4.52	4.52	0.55395	CTNNB1 binding, N-teminal (1);	0.313405	0.29280	N	0.012602	D	0.99214	0.9727	M	0.77616	2.38	0.42677	D	0.993534	P;D;D;B	0.76494	0.607;0.991;0.999;0.33	B;P;P;B	0.62740	0.086;0.689;0.906;0.049	D	0.99136	1.0854	10	0.87932	D	0	.	14.5747	0.68238	0.0:0.0:1.0:0.0	.	164;164;164;164	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	K	164;164;164;164;164;164;49;49;49;49;49;49;49;49;49;24	ENSP00000340347:E164K;ENSP00000326654:E164K;ENSP00000326540:E164K;ENSP00000367827:E164K;ENSP00000378472:E164K;ENSP00000367822:E49K;ENSP00000397946:E49K;ENSP00000429547:E49K;ENSP00000430179:E49K;ENSP00000378469:E49K;ENSP00000429696:E24K	ENSP00000326540:E164K	E	+	1	0	TCF7	133501697	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.586000	0.67503	2.346000	0.79739	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	TCF7-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	85	436	0	114	1	9.650846e-01	12	18	0	114	2		0	0	0	0	0	2	1	1	85	429	0	113	2								-3.326472	1	1	121412	1	30	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SKP1	6500	broad.mit.edu	37	5	133496781	133496781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133496781G>A	ENST00000353411.6	-	4	395	c.212C>T	c.(211-213)cCt>cTt	p.P71L	SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000517625.1_Missense_Mutation_p.P71L|SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1			5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		ATCTTCAGGAGGAGGAGGGTC	0.443000																								0							SO:0001583	missense			ENST00000353411.6	1	1	hg19	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297649	0.60086	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321;ENST00000520417	T;T;T;T;T;T;T;T	0.47177	0.88;0.87;0.87;0.88;0.88;0.87;0.88;0.85	4.97	4.97	0.65823	BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.50735	0.1633	M	0.67569	2.06	0.80722	D	1	B;B;B	0.22414	0.009;0.069;0.008	B;B;B	0.22386	0.013;0.039;0.008	T	0.52109	-0.8619	10	0.52906	T	0.07	-1.6096	18.6017	0.91249	0.0:0.0:1.0:0.0	.	71;71;71	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	L	71	ENSP00000231487:P71L;ENSP00000429472:P71L;ENSP00000431067:P71L;ENSP00000429961:P71L;ENSP00000429686:P71L;ENSP00000331708:P71L;ENSP00000429415:P71L;ENSP00000429996:P71L	ENSP00000331708:P71L	P	-	2	0	SKP1	133524680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.130000	0.94437	2.444000	0.82710	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	1	0	1	34	145	0	58	1	1	486	1689	0	58	2		0	0	0	0	0	2	1	1	33	144	0	56	2								-3.538218	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDKL3	51265	broad.mit.edu	37	5	133644398	133644398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133644398G>A	ENST00000265334.4	-	8	1020	c.902C>T	c.(901-903)gCt>gTt	p.A301V	CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000521118.1_Missense_Mutation_p.A301V|CDKL3_ENST00000609654.1_Missense_Mutation_p.A112V|CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609383.1_Missense_Mutation_p.A6V|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CTD-2410N18.4_ENST00000518409.1_RNA	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3			11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CAGTAATTTAGCTTTCAGTTC	0.308000																								0							SO:0001583	missense			ENST00000265334.4	0	1	hg19	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002233	0.54254	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.74315	0.24;0.19;-0.78;-0.61;-0.83;-0.79;-0.79	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000006	T	0.78329	0.4266	L	0.32530	0.975	0.29057	N	0.884161	D;D;D;D;P	0.89917	0.986;1.0;0.999;0.978;0.877	P;D;D;P;B	0.72338	0.797;0.977;0.974;0.651;0.395	T	0.72795	-0.4185	10	0.38643	T	0.18	-23.5142	12.9356	0.58311	0.0:0.1628:0.8372:0.0	.	112;6;6;112;301	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	V	6;6;301;112;301;301;301	ENSP00000441545:A6V;ENSP00000399807:A6V;ENSP00000265334:A301V;ENSP00000428500:A112V;ENSP00000428689:A301V;ENSP00000430496:A301V;ENSP00000395559:A301V	ENSP00000265334:A301V	A	-	2	0	CDKL3	133672297	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.454000	0.52986	2.676000	0.91093	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	1	0	1	11	99	0	18	0	2.920678e-01	1	9	0	18	2		0	0	0	0	0	2	1	9.984684e-01	11	97	0	18	2								-17.161690	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.650000	1.000000	1.000000	0.959040	0.990000	1	9.000000e-01	1
PHF15	0	broad.mit.edu	37	5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133896555G>A	ENST00000402835.1	+	6	847	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K|PHF15_ENST00000395003.1_Missense_Mutation_p.E198K								22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CGAGTACGACGAGGATGTTGT	0.592000																								0							SO:0001583	missense			ENST00000402835.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738249	0.89573	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.77004	0.986;0.989;0.986;0.982;0.986	D	0.93487	0.6832	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	198;198;198;198;214	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	K	198;214;198;198;198;198;198;198	ENSP00000282605:E198K;ENSP00000354425:E198K;ENSP00000384671:E198K;ENSP00000378451:E198K;ENSP00000406189:E198K	ENSP00000282605:E198K	E	+	1	0	PHF15	133924454	1.000000	0.71417	0.969000	0.41365	0.032000	0.12392	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1	1	0	1	46	277	0	65	1	9.999881e-01	11	93	0	65	2		0	0	0	0	0	2	1	1	46	271	0	64	2								-3.077610	1	1	121412	1	30	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
SAR1B	51128	broad.mit.edu	37	5	133944084	133944084	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133944084A>G	ENST00000402673.2	-	6	736	c.458T>C	c.(457-459)tTa>tCa	p.L153S	SAR1B_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S|SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S|SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B			5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CTGACCATATAAACCAAACAT	0.353000																								0							SO:0001583	missense			ENST00000402673.2	0	1	hg19	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710077	0.89018	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.56	5.56	0.83823	.	0.071028	0.64402	D	0.000012	D	0.90480	0.7018	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94115	0.7374	10	0.87932	D	0	-9.0065	16.021	0.80493	1.0:0.0:0.0:0.0	.	153	Q9Y6B6	SAR1B_HUMAN	S	85;153;85;85;153;85;85;153	ENSP00000385432:L153S;ENSP00000425339:L85S;ENSP00000426335:L85S;ENSP00000404997:L153S;ENSP00000424673:L85S;ENSP00000423197:L85S;ENSP00000425466:L153S	ENSP00000378443:L85S	L	-	2	0	SAR1B	133971983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.201000	0.95017	2.240000	0.73641	0.533000	0.62120	TTA		TCGA-IB-7651-01A-11D-2154-08	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2	0	0	1	12	37	0	13	1	1	25	202	0	13	2		0	0	0	0	0	2	1	9.989080e-01	11	32	0	13	2								-19.999990	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999783	0.990000	1	9.900000e-01	1
SEC24A	10802	broad.mit.edu	37	5	133997159	133997159	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133997159A>T	ENST00000398844.2	+	2	736	c.448A>T	c.(448-450)Aac>Tac	p.N150Y	SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A			36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CTCACAAACAAACCATTGTCC	0.408000																								0							SO:0001583	missense			ENST00000398844.2	1	1	hg19	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642853	0.47153	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97232	-4.3;-4.3	5.77	4.61	0.57282	.	0.312847	0.35615	N	0.003091	D	0.95771	0.8624	L	0.59436	1.845	0.27270	N	0.958396	D	0.56521	0.976	P	0.51016	0.656	D	0.89294	0.3621	10	0.06757	T	0.87	-5.5629	11.8303	0.52290	0.9314:0.0:0.0686:0.0	.	150	O95486	SC24A_HUMAN	Y	150	ENSP00000381823:N150Y;ENSP00000321749:N150Y	ENSP00000321749:N150Y	N	+	1	0	SEC24A	134025058	1.000000	0.71417	0.998000	0.56505	0.238000	0.25445	4.422000	0.59854	1.002000	0.39104	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1	1	0	0	22	440	0	79	1	9.630223e-01	2	109	0	79	2		0	0	0	0	0	2	1	9.999983e-01	22	426	0	79	2								-5.074224	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.580000	0.360000	1.000000	0.560000	0.612060	0.580000	0	4.600000e-01	7.400000e-01
SEC24A	10802	broad.mit.edu	37	5	134032917	134032917	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134032917T>G	ENST00000398844.2	+	14	2376	c.2088T>G	c.(2086-2088)taT>taG	p.Y696*		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A			36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		GTGGACAGTATTCTGATTTGG	0.348000																								0							SO:0001587	stop_gained			ENST00000398844.2	0	1	hg19	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	T	41	8.638871	0.98895	.	.	ENSG00000113615	ENST00000398844	.	.	.	5.59	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1559	8.6221	0.33866	0.0:0.365:0.0:0.635	.	.	.	.	X	696	.	ENSP00000381823:Y696X	Y	+	3	2	SEC24A	134060816	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.795000	0.38784	0.390000	0.25115	0.460000	0.39030	TAT		TCGA-IB-7651-01A-11D-2154-08	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1	1	0	1	128	564	0	117	1	9.999996e-01	7	85	0	117	2		0	0	0	0	0	2	1	1	128	556	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC24A	10802	broad.mit.edu	37	5	134039521	134039521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134039521A>G	ENST00000398844.2	+	16	2627	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S	RNU6-1164P_ENST00000364428.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A			36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CCTAACGTCAACCCAGACGCT	0.408000																								0							SO:0001583	missense			ENST00000398844.2	1	1	hg19	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	a	18.03	3.532589	0.64972	.	.	ENSG00000113615	ENST00000398844	T	0.21543	2.0	5.59	4.43	0.53597	Sec23/Sec24 beta-sandwich (1);	0.040458	0.85682	N	0.000000	T	0.28499	0.0705	L	0.33339	1.005	0.80722	D	1	D;D	0.54601	0.967;0.962	P;P	0.56960	0.649;0.81	T	0.01578	-1.1320	10	0.56958	D	0.05	-7.6536	11.6259	0.51145	0.9302:0.0:0.0698:0.0	.	544;780	B4E205;O95486	.;SC24A_HUMAN	S	780	ENSP00000381823:N780S	ENSP00000381823:N780S	N	+	2	0	SEC24A	134067420	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.321000	0.72881	0.957000	0.37930	-0.489000	0.04712	AAC		TCGA-IB-7651-01A-11D-2154-08	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1	1	0	0	28	285	0	72	1	9.985446e-01	3	101	0	72	2		0	0	0	0	0	2	1	1	27	283	0	71	2								-9.917658	1	1	120820	1	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.730000	1.000000	1.000000	0.960772	0.990000	1	8.900000e-01	1
DDX46	9879	broad.mit.edu	37	5	134154554	134154554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154554C>T	ENST00000354283.4	+	21	2969	c.2834C>T	c.(2833-2835)gCt>gTt	p.A945V	DDX46_ENST00000452510.2_Missense_Mutation_p.A946V			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46			30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		TTTTAGACTGCTAGGTGGAAA	0.403000													Colon(13;391 453 4901 21675 24897)											0							SO:0001583	missense			ENST00000354283.4	1	1	hg19	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858916	0.71834	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.28666	1.6;1.6	5.71	5.71	0.89125	.	0.537909	0.22272	N	0.062243	T	0.33731	0.0873	L	0.38838	1.175	0.80722	D	1	B	0.31351	0.32	B	0.37091	0.241	T	0.07214	-1.0784	10	0.48119	T	0.1	1.6371	19.8505	0.96738	0.0:1.0:0.0:0.0	.	945	Q7L014	DDX46_HUMAN	V	946;945	ENSP00000416534:A946V;ENSP00000346236:A945V	ENSP00000346236:A945V	A	+	2	0	DDX46	134182453	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.764000	0.85297	2.688000	0.91661	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	1	0	1	40	170	0	28	1	1	25	135	0	28	2		0	0	0	0	0	2	1	1	39	166	0	28	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX46	9879	broad.mit.edu	37	5	134154631	134154631	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154631A>G	ENST00000354283.4	+	21	3046	c.2911A>G	c.(2911-2913)Acc>Gcc	p.T971A	DDX46_ENST00000452510.2_Missense_Mutation_p.T972A			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46			30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		AATCAGAGGAACCTACTTCCC	0.418000													Colon(13;391 453 4901 21675 24897)											0							SO:0001583	missense			ENST00000354283.4	1	1	hg19	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714081	0.68730	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.26660	1.72;1.72	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.72353	2.195	0.80722	D	1	P	0.39044	0.656	B	0.41466	0.358	T	0.21348	-1.0248	10	0.62326	D	0.03	-14.7115	15.9781	0.80086	1.0:0.0:0.0:0.0	.	971	Q7L014	DDX46_HUMAN	A	972;971	ENSP00000416534:T972A;ENSP00000346236:T971A	ENSP00000346236:T971A	T	+	1	0	DDX46	134182530	1.000000	0.71417	0.984000	0.44739	0.973000	0.67179	7.264000	0.78432	2.171000	0.68590	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	1	0	1	68	230	0	62	1	1	62	147	0	62	2		0	0	0	0	0	2	1	1	68	222	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CATSPER3	347732	broad.mit.edu	37	5	134344598	134344598	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134344598C>T	ENST00000282611.6	+	5	829	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3			18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		CGGGCATTCACCATCATCTTC	0.537000																								0							SO:0001583	missense			ENST00000282611.6	1	1	hg19	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050723	0.75960	.	.	ENSG00000152705	ENST00000282611	D	0.98345	-4.88	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.56097	D	0.000031	D	0.98118	0.9379	L	0.38175	1.15	0.41201	D	0.986372	D	0.89917	1.0	D	0.91635	0.999	D	0.99215	1.0877	10	0.59425	D	0.04	-43.0996	16.38	0.83452	0.0:1.0:0.0:0.0	.	248	Q86XQ3	CTSR3_HUMAN	I	248	ENSP00000282611:T248I	ENSP00000282611:T248I	T	+	2	0	CATSPER3	134372497	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.285000	0.51716	2.677000	0.91161	0.563000	0.77884	ACC		TCGA-IB-7651-01A-11D-2154-08	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	0	0	1	39	347	1	68	0	1.586263e-01	0	7	1	68	2		0	0	0	0	0	2	1	9.978372e-01	38	345	1	68	19								-14.003680	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.870000	1.000000	1.000000	0.991430	0.990000	1	9.900000e-01	1
H2AFY	9555	broad.mit.edu	37	5	134696257	134696257	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134696257C>A	ENST00000511689.1	-	5	1111	c.518G>T	c.(517-519)aGc>aTc	p.S173I	H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I|H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000423969.2_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y			11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		CTCGGTTGTGCTGTCGGCGCT	0.587000																								0							SO:0001583	missense			ENST00000511689.1	1	1	hg19	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787136	0.90367	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.26373	1.78;1.74;1.83;1.78	5.84	5.84	0.93424	.	0.075115	0.85682	D	0.000000	T	0.52208	0.1720	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.999;0.987	P;D;P	0.85130	0.808;0.997;0.648	T	0.49624	-0.8920	10	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	172;173;173	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	I	173;172;173;173	ENSP00000423563:S173I;ENSP00000302572:S172I;ENSP00000310169:S173I;ENSP00000424971:S173I	ENSP00000302572:S172I	S	-	2	0	H2AFY	134724156	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.543000	0.67225	2.760000	0.94817	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	1	0	1	22	347	0	78	1	1	100	847	0	78	2		0	0	0	0	0	2	1	9.999986e-01	21	340	0	75	2								-19.999980	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.720000	0.460000	1.000000	1.000000	0.742860	0.720000	0	5.800000e-01	9.200000e-01
NEUROG1	4762	broad.mit.edu	37	5	134871080	134871080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134871080C>T	ENST00000314744.4	-	1	559	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1			2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		CGGTTGCGCTCGCGATCGTTG	0.706000																								0							SO:0001583	missense			ENST00000314744.4	1	1	hg19	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	c	32	5.156516	0.94686	.	.	ENSG00000181965	ENST00000314744	D	0.99730	-6.56	4.71	4.71	0.59529	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97390	3.995	0.80722	D	1	D	0.65815	0.995	D	0.65140	0.932	D	0.96672	0.9497	10	0.66056	D	0.02	-23.8708	17.6476	0.88153	0.0:1.0:0.0:0.0	.	101	Q92886	NGN1_HUMAN	K	101	ENSP00000317580:E101K	ENSP00000317580:E101K	E	-	1	0	NEUROG1	134898979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.696000	0.84270	2.158000	0.67659	0.651000	0.88453	GAG		TCGA-IB-7651-01A-11D-2154-08	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	1	0	1	19	83	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999949e-01	19	82	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999917	0.990000	1	9.900000e-01	1
IL9	3578	broad.mit.edu	37	5	135231466	135231466	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135231466A>G	ENST00000274520.1	-	1	50	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9			6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		GCCACGGAGCACAGGAGCAGG	0.577000																								0							SO:0001583	missense			ENST00000274520.1	1	1	hg19	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617588	0.46736	.	.	ENSG00000145839	ENST00000274520	T	0.45668	0.89	4.37	-1.44	0.08856	.	0.570981	0.14837	N	0.295519	T	0.36331	0.0963	L	0.46157	1.445	0.09310	N	0.999999	D	0.54964	0.969	P	0.49276	0.605	T	0.23368	-1.0190	10	0.59425	D	0.04	-1.8883	4.569	0.12200	0.3378:0.3355:0.0:0.3268	.	14	P15248	IL9_HUMAN	R	14	ENSP00000274520:C14R	ENSP00000274520:C14R	C	-	1	0	IL9	135259365	0.010000	0.17322	0.032000	0.17829	0.051000	0.14879	-0.075000	0.11431	-0.025000	0.13918	0.533000	0.62120	TGC		TCGA-IB-7651-01A-11D-2154-08	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	1	0	0	71	354	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	70	347	0	74	2								-3.242427	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LECT2	3950	broad.mit.edu	37	5	135287026	135287026	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135287026A>G	ENST00000274507.1	-	3	375	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000514447.2_Silent_p.L59L|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.L59L	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2			4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		GCAGAGCACAAGATGTCCACA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000274507.1	1	1	hg19	CCDS4190.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	1	0	1	57	230	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	55	227	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGFBI	7045	broad.mit.edu	37	5	135383056	135383056	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135383056A>G	ENST00000442011.2	+	6	879	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa			32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		CTCCACCATCACCAACAACAT	0.562000																								0							SO:0001583	missense			ENST00000442011.2	1	1	hg19	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.44|13.44	2.236619|2.236619	0.39498|0.39498	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767|ENST00000442011;ENST00000305126	.|D;D	.|0.91464	.|-2.85;-2.85	6.0|6.0	2.16|2.16	0.27623|0.27623	.|FAS1 domain (2);	.|0.346314	.|0.36268	.|N	.|0.002698	D|D	0.85652|0.85652	0.5746|0.5746	L|L	0.55481|0.55481	1.735|1.735	0.47037|0.47037	D|D	0.999293|0.999293	.|B	.|0.29481	.|0.245	.|B	.|0.25614	.|0.062	T|T	0.76710|0.76710	-0.2859|-0.2859	5|10	.|0.22109	.|T	.|0.4	-6.952|-6.952	11.3332|11.3332	0.49487|0.49487	0.6357:0.0:0.0:0.3643|0.6357:0.0:0.0:0.3643	.|.	.|240	.|Q15582	.|BGH3_HUMAN	R|A	15|240	.|ENSP00000416330:T240A;ENSP00000306306:T240A	.|ENSP00000306306:T240A	H|T	+|+	2|1	0|0	TGFBI|TGFBI	135410955|135410955	0.003000|0.003000	0.15002|0.15002	0.775000|0.775000	0.31657|0.31657	0.891000|0.891000	0.51852|0.51852	1.730000|1.730000	0.38125|0.38125	0.129000|0.129000	0.18514|0.18514	0.454000|0.454000	0.30748|0.30748	CAC|ACC		TCGA-IB-7651-01A-11D-2154-08	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1	1	0	1	208	915	0	252	1	1	3	1019	0	252	2		0	0	0	0	0	2	1	1	207	899	0	250	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC7	57113	broad.mit.edu	37	5	135583384	135583384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135583384G>A	ENST00000513104.1	-	7	1901	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L|TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7			46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		GAGCCCTTCCGATATGATCTG	0.522000																								0							SO:0001583	missense			ENST00000513104.1	1	1	hg19	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	34	5.299253	0.95574	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80994	-1.26;-1.44;-1.3	5.65	5.65	0.86999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92331	0.7567	M	0.91717	3.235	0.58432	D	0.999997	D;P;D;D	0.89917	1.0;0.752;1.0;1.0	D;B;D;D	0.85130	0.992;0.423;0.997;0.995	D	0.93047	0.6462	10	0.87932	D	0	-8.1392	19.9142	0.97043	0.0:0.0:1.0:0.0	.	424;479;485;540	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	479;424;540;540	ENSP00000347312:S479L;ENSP00000441628:S424L;ENSP00000426070:S540L	ENSP00000265193:S540L	S	-	2	0	TRPC7	135611283	1.000000	0.71417	0.927000	0.36925	0.891000	0.51852	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	1	0	1	77	310	1	88		0	0	0	1	88	2		0	0	0	0	0	2	1	1	76	305	1	88	15								-3.443741	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7			46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		CCATACTCAGCCGAGTCCAGG	0.607000																								0							SO:0001583	missense			ENST00000513104.1	1	1	hg19	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.916980|4.916980	0.92249|0.92249	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82976|0.82976	0.5154|0.5154	M|M	0.86028|0.86028	2.79|2.79	0.46927|0.46927	D|D	0.999253|0.999253	D;D;P;P|.	0.69078|.	0.997;0.985;0.92;0.848|.	D;P;P;P|.	0.80764|.	0.994;0.882;0.764;0.742|.	D|D	0.84502|0.84502	0.0617|0.0617	10|5	0.59425|.	D|.	0.04|.	-13.5949|-13.5949	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51;51|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|D	51|50	ENSP00000347312:A51T;ENSP00000441628:A51T;ENSP00000426070:A51T|.	ENSP00000265193:A51T|.	A|G	-|-	1|2	0|0	TRPC7|TRPC7	135720824|135720824	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.963000|0.963000	0.63663|0.63663	7.651000|7.651000	0.83577|0.83577	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCT|GGC		TCGA-IB-7651-01A-11D-2154-08	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	1	0	1	146	732	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	1	141	725	0	160	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPOCK1	6695	broad.mit.edu	37	5	136314408	136314408	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:136314408C>T	ENST00000394945.1	-	11	1424	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	SPOCK1_ENST00000509978.1_5'Flank|SPOCK1_ENST00000282223.7_Missense_Mutation_p.A419T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1			18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		TCTGTCACGGCTCGGGTGTGC	0.522000																								0							SO:0001583	missense			ENST00000394945.1	0	1	hg19	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104973	0.77096	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.44083	0.93;0.93	5.16	5.16	0.70880	.	0.066495	0.64402	D	0.000008	T	0.44159	0.1280	L	0.51422	1.61	0.43868	D	0.996476	P	0.47409	0.895	P	0.44518	0.452	T	0.49263	-0.8958	10	0.87932	D	0	.	15.8164	0.78604	0.0:1.0:0.0:0.0	.	419	Q08629	TICN1_HUMAN	T	419	ENSP00000378401:A419T;ENSP00000282223:A419T	ENSP00000282223:A419T	A	-	1	0	SPOCK1	136342307	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	5.045000	0.64220	2.395000	0.81488	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	0	0	0	14	777	0	159	1	8.355285e-01	2	182	0	159	2		0	0	0	0	0	2	1	9.996703e-01	14	745	0	153	2								-2.783794	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.210000	0.120000	1.000000	0.210000	0.279425	0.210000	0	1.600000e-01	3.000000e-01
DNAH5	1767	broad.mit.edu	37	5	13700841	13700841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13700841C>T	ENST00000265104.4	-	78	13735	c.13631G>A	c.(13630-13632)gGc>gAc	p.G4544D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5			378	Lung NSC(4;0.00476)				CTTGTCCCAGCCAGCACCTTC	0.428000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000265104.4	1	1	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366928	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.08008	3.14	5.95	5.07	0.68467	Dynein heavy chain (1);	0.156736	0.56097	D	0.000027	T	0.26882	0.0658	M	0.80982	2.52	0.58432	D	0.999995	P	0.44816	0.844	P	0.55749	0.783	T	0.02138	-1.1207	10	0.32370	T	0.25	.	17.1138	0.86683	0.0:0.8734:0.1266:0.0	.	4544	Q8TE73	DYH5_HUMAN	D	4544	ENSP00000265104:G4544D	ENSP00000265104:G4544D	G	-	2	0	DNAH5	13753841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.966000	0.56795	1.488000	0.48433	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	1	0	1	131	719	0	180	0	3.576870e-01	1	7	0	180	2		0	0	0	0	0	2	1	1	128	703	0	178	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPA0	10949	broad.mit.edu	37	5	137089345	137089345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089345C>A	ENST00000314940.4	-	1	694	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0			4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		ATCCACGCTTCTTGCCGGACT	0.577000																								0							SO:0001583	missense			ENST00000314940.4	1	1	hg19	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339057	0.81911	.	.	ENSG00000177733	ENST00000314940	D	0.93712	-3.27	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.95695	0.8600	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.95970	0.8969	10	0.87932	D	0	.	13.6089	0.62063	0.0:0.9223:0.0:0.0777	.	137	Q13151	ROA0_HUMAN	N	137	ENSP00000316042:K137N	ENSP00000316042:K137N	K	-	3	2	HNRNPA0	137117244	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.201000	0.51059	2.317000	0.78254	0.305000	0.20034	AAG		TCGA-IB-7651-01A-11D-2154-08	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	1	0	1	84	277	0	64	1	1	165	627	0	64	2		0	0	0	0	0	2	1	1	83	276	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPA0	10949	broad.mit.edu	37	5	137089524	137089524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089524C>T	ENST00000314940.4	-	1	515	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0			4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		CGCTTCAGCTCCACAGTGTTG	0.652000																								0							SO:0001583	missense			ENST00000314940.4	1	1	hg19	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323860	0.95708	.	.	ENSG00000177733	ENST00000314940	D	0.91894	-2.93	4.97	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	D	0.94512	0.8233	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	D	0.94705	0.7887	10	0.87932	D	0	.	14.475	0.67539	0.1482:0.8517:0.0:0.0	.	78	Q13151	ROA0_HUMAN	K	78	ENSP00000316042:E78K	ENSP00000316042:E78K	E	-	1	0	HNRNPA0	137117423	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.027000	0.70881	1.036000	0.39998	0.305000	0.20034	GAG		TCGA-IB-7651-01A-11D-2154-08	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	0	0	0	20	528	0	82	1	9.999904e-01	25	485	0	82	2		0	0	0	0	0	2	1	9.999948e-01	19	523	0	80	2								-3.823879	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.440000	0.270000	1.000000	0.440000	0.488867	0.440000	0	3.500000e-01	5.800000e-01
MYOT	9499	broad.mit.edu	37	5	137219167	137219167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137219167G>A	ENST00000239926.4	+	7	1285	c.911G>A	c.(910-912)gGt>gAt	p.G304D	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.G189D|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin			23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		TCTGAGAAGGGTCTTCATTCA	0.448000																								0							SO:0001583	missense			ENST00000239926.4	1	1	hg19	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203947	0.95033	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66995	-0.24;-0.24;-0.24	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80565	0.4647	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81899	-0.0721	10	0.62326	D	0.03	.	18.8467	0.92210	0.0:0.0:1.0:0.0	.	304	Q9UBF9	MYOTI_HUMAN	D	304;120;189	ENSP00000239926:G304D;ENSP00000391185:G120D;ENSP00000426281:G189D	ENSP00000239926:G304D	G	+	2	0	MYOT	137247066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.497000	0.84241	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	1	0	1	90	394	0	86	0	9.263498e-02	0	3	0	86	2		0	0	0	0	0	2	1	1	89	387	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD2L2	27039	broad.mit.edu	37	5	137243502	137243502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137243502G>A	ENST00000508883.1	+	7	1073	c.1047G>A	c.(1045-1047)ttG>ttA	p.L349L	PKD2L2_ENST00000502810.1_Silent_p.L327L|PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000508638.1_Silent_p.L349L|PKD2L2_ENST00000290431.5_Silent_p.L349L			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2			28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		GACAGCTGTTGAAAAGTACTG	0.299000																								0							SO:0001819	synonymous_variant			ENST00000508883.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	1	0	1	24	102	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.999999e-01	23	103	0	49	2								-3.465520	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
PKD2L2	27039	broad.mit.edu	37	5	137261573	137261573	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137261573C>T	ENST00000508883.1	+	12	1652	c.1626C>T	c.(1624-1626)agC>agT	p.S542S	PKD2L2_ENST00000502810.1_Silent_p.S520S|PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000508638.1_Silent_p.S441S|PKD2L2_ENST00000290431.5_Silent_p.S542S			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2			28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		GCAAAGGCAGCGGAGATTTGG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000508883.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	1	0	0	14	146	0	30	0	9.088843e-03	0	2	0	30	2		0	0	0	0	0	2	1	9.997895e-01	14	145	0	30	2								-7.083410	1	1	120774	7	35	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.610000	1.000000	1.000000	0.933320	0.990000	1	8.100000e-01	1
FAM13B	51306	broad.mit.edu	37	5	137289150	137289150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137289150G>A	ENST00000033079.3	-	15	2108	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*|FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B			11					GATGATCTTCGAATTCTGAAT	0.353000																								0							SO:0001587	stop_gained			ENST00000033079.3	0	1	hg19	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	41	9.156967	0.99084	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9213	13.6288	0.62183	0.0:0.0:0.8451:0.1549	.	.	.	.	X	553;457;553	.	ENSP00000033079:R553X	R	-	1	2	FAM13B	137317049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.454000	0.52986	2.403000	0.81681	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	1	0	1	90	337	0	95	1	9.999349e-01	4	51	0	95	2		0	0	0	0	0	2	1	1	90	331	0	95	2								-3.704502	1	1	121408	1	29	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM13B	51306	broad.mit.edu	37	5	137354186	137354186	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137354186C>T	ENST00000033079.3	-	4	626	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B			11					TGAAAAAGTCCTTGTTGCTCC	0.423000																								0							SO:0001583	missense			ENST00000033079.3	1	1	hg19	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452507	0.84209	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310;ENST00000502471;ENST00000509596;ENST00000508403	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.91	5.91	0.95273	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.86755	0.1963	10	0.87932	D	0	-16.8533	20.2963	0.98556	0.0:1.0:0.0:0.0	.	59;59	Q9NYF5-2;Q9NYF5	.;FA13B_HUMAN	R	59	ENSP00000033079:G59R;ENSP00000388521:G59R;ENSP00000425326:G59R;ENSP00000424785:G59R;ENSP00000422311:G59R;ENSP00000426863:G59R	ENSP00000033079:G59R	G	-	1	0	FAM13B	137382085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.162000	0.77515	2.813000	0.96785	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	1	0	0	30	453	0	92	0	7.096241e-01	0	39	0	92	2		0	0	0	0	0	2	1	1	29	448	0	92	2								-3.075692	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.750000	0.510000	1.000000	1.000000	0.766446	0.750000	0	6.200000e-01	9.300000e-01
WNT8A	7478	broad.mit.edu	37	5	137424615	137424615	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424615G>A	ENST00000398754.1	+	5	372		c.e5-1		WNT8A_ENST00000506684.1_Splice_Site	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A			18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		CTTGTATATAGGAGGCCATGG	0.527000																								0							SO:0001630	splice_region_variant			ENST00000398754.1	0	1	hg19	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402597	0.83230	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WNT8A	137452514	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.395000	0.97266	2.941000	0.99782	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	0	0	0	12	468	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	9.990179e-01	12	458	0	91	2								-3.190729	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.310000	0.160000	1.000000	0.290000	0.366321	0.310000	0	2.200000e-01	4.400000e-01
WNT8A	7478	broad.mit.edu	37	5	137424756	137424756	+	Missense_Mutation	SNP	C	C	A	rs62383479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424756C>A	ENST00000398754.1	+	5	513	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	WNT8A_ENST00000506684.1_Missense_Mutation_p.L188M	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A			18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		GGCCGGCAGACTGGTGGGTAT	0.488000																								0							SO:0001583	missense			ENST00000398754.1	1	1	hg19	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891650	0.72524	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76316	-1.01;-1.01;-1.01	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	L	0.52759	1.655	0.80722	D	1	D;D;D	0.64830	0.979;0.979;0.994	D;D;D	0.65140	0.913;0.913;0.932	D	0.84319	0.0515	10	0.52906	T	0.07	.	19.5787	0.95455	0.0:1.0:0.0:0.0	rs62383479	188;188;170	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	M	188;188;170	ENSP00000426653:L188M;ENSP00000424809:L188M;ENSP00000381739:L170M	ENSP00000354726:L170M	L	+	1	2	WNT8A	137452655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.547000	0.45786	2.941000	0.99782	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	1	0	1	120	515	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	116	498	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC23	8697	broad.mit.edu	37	5	137525388	137525388	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525388G>A	ENST00000394886.2	-	15	1587	c.1557C>T	c.(1555-1557)taC>taT	p.Y519Y		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23			23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		ACTTAAAATAGTACTGGGCCA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000394886.2	1	1	hg19	CCDS4200.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2	1	0	1	50	236	0	56	1	9.999998e-01	33	79	0	56	2		0	0	0	0	0	2	1	1	50	230	0	56	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC23	8697	broad.mit.edu	37	5	137525404	137525404	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525404C>T	ENST00000394886.2	-	15	1571	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23			23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		GGCCAGATAGCGAAAGGCAGT	0.388000																								0							SO:0001583	missense			ENST00000394886.2	1	1	hg19	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626694	0.66901	.	.	ENSG00000094880	ENST00000394886	T	0.37584	1.19	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	L	0.38531	1.155	0.80722	D	1	B	0.31241	0.315	B	0.21360	0.034	T	0.04551	-1.0943	10	0.21014	T	0.42	-8.2032	19.0709	0.93136	0.0:1.0:0.0:0.0	.	514	Q9UJX2	CDC23_HUMAN	H	514	ENSP00000378350:R514H	ENSP00000378350:R514H	R	-	2	0	CDC23	137553303	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.651000	0.83577	2.745000	0.94114	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2	1	0	1	46	246	0	48	1	9.999997e-01	38	86	0	48	2		0	0	0	0	0	2	1	1	45	240	0	48	2								-19.999250	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GFRA3	2676	broad.mit.edu	37	5	137588741	137588741	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137588741T>G	ENST00000274721.3	-	8	1365	c.1119A>C	c.(1117-1119)gaA>gaC	p.E373D	GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3			12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		CAGCAGGGTTTTCATTCTGTG	0.537000																								0							SO:0001583	missense			ENST00000274721.3	1	1	hg19	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	T	7.554	0.663249	0.14710	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.44083	1.52;0.93	5.34	1.24	0.21308	.	1.200820	0.05729	N	0.599266	T	0.26991	0.0661	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.20638	-1.0269	10	0.16420	T	0.52	0.7164	10.7655	0.46291	0.0:0.0:0.5013:0.4987	.	342;373	O60609-2;O60609	.;GFRA3_HUMAN	D	373;342	ENSP00000274721:E373D;ENSP00000367613:E342D	ENSP00000274721:E373D	E	-	3	2	GFRA3	137616640	0.012000	0.17670	0.002000	0.10522	0.140000	0.21249	-0.101000	0.10973	0.428000	0.26173	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	1	0	1	30	104	0	25	0	5.698475e-01	1	7	0	25	2		0	0	0	0	0	2	1	1	29	103	0	25	2								-19.981280	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFRA3	2676	broad.mit.edu	37	5	137593567	137593567	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137593567G>A	ENST00000274721.3	-	4	792	c.546C>T	c.(544-546)taC>taT	p.Y182Y	GFRA3_ENST00000378362.3_Silent_p.Y151Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3			12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		ACGCCTCCCCGTAGGCCTTGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000274721.3	1	1	hg19	CCDS4201.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	1	0	1	36	247	0	40	0	4.706026e-02	0	3	0	40	2		0	0	0	0	0	2	1	1	36	242	0	40	2								-3.319138	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999613	0.990000	1	9.900000e-01	1
GFRA3	2676	broad.mit.edu	37	5	137599964	137599964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137599964C>T	ENST00000274721.3	-	2	611	c.365G>A	c.(364-366)cGt>cAt	p.R122H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3			12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		GCTGCGGGCACGGTGAACGGT	0.547000																								0							SO:0001583	missense			ENST00000274721.3	1	1	hg19	CCDS4201.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.48	1.950022	0.34377	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64438	-0.1;-0.1	5.28	0.0964	0.14490	GDNF/GAS1 (2);	0.765819	0.12459	N	0.467035	T	0.29850	0.0746	N	0.02539	-0.55	0.21984	N	0.999434	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.14392	-1.0474	10	0.46703	T	0.11	-0.0074	3.0095	0.06039	0.0881:0.3216:0.3285:0.2617	.	122;122	O60609-2;O60609	.;GFRA3_HUMAN	H	122	ENSP00000274721:R122H;ENSP00000367613:R122H	ENSP00000274721:R122H	R	-	2	0	GFRA3	137627863	0.976000	0.34144	0.920000	0.36463	0.855000	0.48748	0.208000	0.17415	-0.326000	0.08564	-0.291000	0.09656	CGT		TCGA-IB-7651-01A-11D-2154-08	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	1	0	1	53	343	0	92	0	1.870254e-02	0	2	0	92	2		0	0	0	0	0	2	1	1	53	338	0	92	2								-3.318719	1	1	121408	84	50	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
DNAH5	1767	broad.mit.edu	37	5	13762877	13762877	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13762877G>T	ENST00000265104.4	-	60	10339	c.10235C>A	c.(10234-10236)gCt>gAt	p.A3412D	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5			378	Lung NSC(4;0.00476)				GGAAGCCATAGCTTTCGTCCA	0.458000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000265104.4	1	1	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411584	0.83340	.	.	ENSG00000039139	ENST00000265104	T	0.74106	-0.81	5.32	5.32	0.75619	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94723	0.7902	10	0.72032	D	0.01	.	18.9925	0.92798	0.0:0.0:1.0:0.0	.	3412	Q8TE73	DYH5_HUMAN	D	3412	ENSP00000265104:A3412D	ENSP00000265104:A3412D	A	-	2	0	DNAH5	13815877	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	9.807000	0.99171	2.494000	0.84150	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	0	0	12	315	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	9.989851e-01	12	305	0	55	2								-12.814420	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.430000	0.230000	0.690000	0.420000	0.450256	0.430000	0	3.200000e-01	5.700000e-01
DNAH5	1767	broad.mit.edu	37	5	13766267	13766267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13766267C>T	ENST00000265104.4	-	59	10023	c.9919G>A	c.(9919-9921)Gcc>Acc	p.A3307T	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	p.A3307T(1)		378	Lung NSC(4;0.00476)				CGAACAGTGGCGATGTCCGAA	0.522000									Kartagener syndrome															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000265104.4	1	1	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127535	0.77549	.	.	ENSG00000039139	ENST00000265104	T	0.69685	-0.42	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.052284	0.85682	N	0.000000	T	0.64886	0.2639	L	0.49778	1.585	0.80722	D	1	B	0.17038	0.02	B	0.25884	0.064	T	0.58261	-0.7667	10	0.24483	T	0.36	.	19.7357	0.96202	0.0:1.0:0.0:0.0	.	3307	Q8TE73	DYH5_HUMAN	T	3307	ENSP00000265104:A3307T	ENSP00000265104:A3307T	A	-	1	0	DNAH5	13819267	1.000000	0.71417	0.284000	0.24805	0.684000	0.39900	7.683000	0.84093	2.660000	0.90430	0.558000	0.71614	GCC		TCGA-IB-7651-01A-11D-2154-08	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	1	0	1	92	532	0	118	0	2.220157e-02	1	1	0	118	2		0	0	0	0	0	2	1	1	90	528	0	114	2								-3.142871	1	1	121412	4	39	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM53C	51307	broad.mit.edu	37	5	137681012	137681012	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681012G>A	ENST00000239906.5	+	4	1063	c.635G>A	c.(634-636)aGt>aAt	p.S212N	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C			17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		TCCCCTCAAAGTGGCTCCTGG	0.627000																								0							SO:0001583	missense			ENST00000239906.5	1	1	hg19	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185991	0.78789	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.47177	0.85;0.85	5.55	4.68	0.58851	.	0.257713	0.45126	N	0.000392	T	0.65698	0.2716	M	0.72353	2.195	0.80722	D	1	D	0.54772	0.968	D	0.70487	0.969	T	0.66893	-0.5808	9	.	.	.	-1.3068	13.3265	0.60463	0.0768:0.0:0.9232:0.0	.	212	Q9NYF3	FA53C_HUMAN	N	212	ENSP00000403705:S212N;ENSP00000239906:S212N	.	S	+	2	0	FAM53C	137708911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.416000	0.44644	1.575000	0.49775	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	0	0	1	253	1249	0	271	1	9.999993e-01	17	79	0	271	2		0	0	0	0	0	2	1	1	248	1224	0	267	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM53C	51307	broad.mit.edu	37	5	137681135	137681135	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681135C>T	ENST00000239906.5	+	4	1186	c.758C>T	c.(757-759)gCa>gTa	p.A253V	FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000507506.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C			17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		AGCTCTCCCGCATCCTCCCCA	0.657000																								0							SO:0001583	missense			ENST00000239906.5	1	1	hg19	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.346|9.346	1.064224|1.064224	0.20067|0.20067	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000434981;ENST00000239906|ENST00000513056	T;T|T	0.45668|0.50277	0.89;0.89|0.75	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.257566|.	0.40469|.	N|.	0.001100|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.47190|0.47190	1.495|1.495	0.29900|0.29900	N|N	0.824489|0.824489	B|P	0.33238|0.52692	0.403|0.955	B|B	0.22601|0.41088	0.04|0.347	T|T	0.54050|0.54050	-0.8351|-0.8351	10|9	0.66056|0.66056	D|D	0.02|0.02	-3.7722|-3.7722	18.4386|18.4386	0.90656|0.90656	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	253|63	Q9NYF3|D6RE00	FA53C_HUMAN|.	V|Y	253|63	ENSP00000403705:A253V;ENSP00000239906:A253V|ENSP00000425154:H63Y	ENSP00000239906:A253V|ENSP00000425154:H63Y	A|H	+|+	2|1	0|0	FAM53C|FAM53C	137709034|137709034	0.675000|0.675000	0.27558|0.27558	0.775000|0.775000	0.31657|0.31657	0.053000|0.053000	0.15095|0.15095	3.901000|3.901000	0.56303|0.56303	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAT		TCGA-IB-7651-01A-11D-2154-08	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	1	0	1	157	589	0	106	1	9.999989e-01	16	58	0	106	2		0	0	0	0	0	2	1	1	150	567	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM3B	51780	broad.mit.edu	37	5	137765648	137765648	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137765648C>A	ENST00000314358.5	+	21	5087	c.4887C>A	c.(4885-4887)ctC>ctA	p.L1629L	KDM3B_ENST00000394866.1_Silent_p.L1285L|KDM3B_ENST00000542866.1_Silent_p.L661L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B			65					GGGAGCTGCTCCGAAAGGTAC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000314358.5	1	1	hg19	CCDS34242.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	1	0	1	36	149	0	40	1	1	45	118	0	40	2		0	0	0	0	0	2	1	1	35	147	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM3B	51780	broad.mit.edu	37	5	137767233	137767233	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137767233T>C	ENST00000314358.5	+	23	5390	c.5190T>C	c.(5188-5190)caT>caC	p.H1730H	KDM3B_ENST00000394866.1_Silent_p.H1386H|KDM3B_ENST00000542866.1_Silent_p.H762H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B			65					ATACAAATCATGAGGATAAAC	0.423000																								0							SO:0001819	synonymous_variant			ENST00000314358.5	1	1	hg19	CCDS34242.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	1	0	1	84	285	0	72	1	1	29	94	0	72	2		0	0	0	0	0	2	1	1	82	278	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGR1	1958	broad.mit.edu	37	5	137801568	137801568	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137801568C>A	ENST00000239938.4	+	1	390	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1			6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		GGAGATGATGCTGCTGAGCAA	0.667000																								0							SO:0001583	missense			ENST00000239938.4	1	1	hg19	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697751	0.48307	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.14391	2.51	5.0	4.12	0.48240	.	0.123911	0.53938	N	0.000047	T	0.09686	0.0238	L	0.28344	0.845	0.41657	D	0.989166	P;B	0.34864	0.473;0.001	B;B	0.32393	0.145;0.005	T	0.19353	-1.0308	10	0.14656	T	0.56	-6.652	14.8172	0.70045	0.1452:0.8548:0.0:0.0	.	40;40	B4DNX4;P18146	.;EGR1_HUMAN	M	40	ENSP00000239938:L40M	ENSP00000239938:L40M	L	+	1	2	EGR1	137829467	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.331000	0.59273	1.304000	0.44892	0.486000	0.48141	CTG		TCGA-IB-7651-01A-11D-2154-08	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	1	0	0	104	422	0	93	1	9.784568e-01	5	22	0	93	2	0	0	1	0	0	0	2	1	1	104	418	0	93	2								-20.000000	1	1	121410	1	25	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGR1	1958	broad.mit.edu	37	5	137802696	137802696	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137802696G>T	ENST00000239938.4	+	2	830	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1			6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		CCGCCTCCCAGAGCCCACCCC	0.637000																								0							SO:0001583	missense			ENST00000239938.4	1	1	hg19	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270913	0.40194	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.24723	1.84	4.75	3.88	0.44766	.	0.381500	0.27096	N	0.020949	T	0.40398	0.1115	L	0.53249	1.67	0.37369	D	0.911532	D	0.61697	0.99	D	0.64237	0.923	T	0.42865	-0.9426	10	0.62326	D	0.03	-10.3652	9.4134	0.38505	0.0798:0.1441:0.776:0.0	.	186	P18146	EGR1_HUMAN	H	186	ENSP00000239938:Q186H	ENSP00000239938:Q186H	Q	+	3	2	EGR1	137830595	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.315000	0.65810	0.992000	0.38840	0.305000	0.20034	CAG		TCGA-IB-7651-01A-11D-2154-08	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	0	0	1	236	1022	0	201	1	9.999953e-01	5	70	0	201	2		0	0	0	0	0	2	1	1	233	996	0	195	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA9	3313	broad.mit.edu	37	5	137906735	137906735	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137906735C>A	ENST00000297185.3	-	4	449	c.324G>T	c.(322-324)caG>caT	p.Q108H		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	p.Q108Q(1)		28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		TGGTGACAGCCTGTCGCTTGG	0.498000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000297185.3	1	1	hg19	CCDS4208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.50|19.50	3.839122|3.839122	0.71373|0.71373	.|.	.|.	ENSG00000113013|ENSG00000113013	ENST00000297185;ENST00000540484;ENST00000504810;ENST00000507886|ENST00000541333	T;T;T|.	0.01203|.	5.18;5.18;5.18|.	5.34|5.34	2.52|2.52	0.30459|0.30459	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87346|0.87346	0.6154|0.6154	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.993|.	D|D	0.88796|0.88796	0.3281|0.3281	10|6	0.87932|0.72032	D|D	0|0.01	-10.1034|-10.1034	10.3089|10.3089	0.43697|0.43697	0.0:0.7674:0.0:0.2326|0.0:0.7674:0.0:0.2326	.|.	39;108|.	B7Z1V7;P38646|.	.;GRP75_HUMAN|.	H|M	108;94;39;39|78	ENSP00000297185:Q108H;ENSP00000425598:Q39H;ENSP00000423098:Q39H|.	ENSP00000297185:Q108H|ENSP00000438817:R78M	Q|R	-|-	3|2	2|0	HSPA9|HSPA9	137934634|137934634	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.649000|0.649000	0.24843|0.24843	0.726000|0.726000	0.32339|0.32339	0.655000|0.655000	0.94253|0.94253	CAG|AGG		TCGA-IB-7651-01A-11D-2154-08	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	1	0	0	24	508	0	74	1	1	37	633	0	74	2		0	0	0	0	0	2	1	9.999996e-01	24	502	0	72	2								-5.007798	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.540000	0.350000	1.000000	0.520000	0.582836	0.540000	0	4.400000e-01	7.000000e-01
CTNNA1	1495	broad.mit.edu	37	5	138163244	138163244	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138163244G>A	ENST00000302763.7	+	7	989	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R300H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa			52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		AGCGAGGAGCGCTTTAGGCCT	0.507000																								0							SO:0001583	missense			ENST00000302763.7	1	1	hg19	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600276	0.87055	0.0	1.16E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.42900	0.96;0.96;0.96	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.58428	1.81	0.80722	D	1	B;P	0.36010	0.211;0.532	B;B	0.34824	0.052;0.19	T	0.35895	-0.9770	10	0.45353	T	0.12	-9.6509	19.8512	0.96741	0.0:0.0:1.0:0.0	.	300;300	G3XAM7;P35221	.;CTNA1_HUMAN	H	197;300;300;285;300	ENSP00000347190:R197H;ENSP00000304669:R300H;ENSP00000427821:R300H	ENSP00000304669:R300H	R	+	2	0	CTNNA1	138191143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.797000	0.96272	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	1	0	1	69	236	0	57	1	1	313	672	0	57	2		0	0	0	0	0	2	1	1	69	234	0	57	2								-4.000998	1	1	121412	2	33	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNA1	1495	broad.mit.edu	37	5	138221925	138221925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138221925G>A	ENST00000302763.7	+	8	1177	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	CTNNA1_ENST00000518825.1_Missense_Mutation_p.A363T|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000540387.1_5'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa			52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		AAGAAGTGATGCACTCAATTC	0.368000																								0							SO:0001583	missense			ENST00000302763.7	1	1	hg19	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559375	0.27827	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38887	1.11;1.11;1.11	5.82	4.95	0.65309	.	0.103523	0.64402	D	0.000004	T	0.30510	0.0767	N	0.21373	0.66	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.008	B;B;B	0.19666	0.025;0.006;0.026	T	0.06789	-1.0807	10	0.15066	T	0.55	-10.4149	15.9414	0.79756	0.0:0.0:0.8638:0.1362	.	363;240;363	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	260;363;363;348;363	ENSP00000347190:A260T;ENSP00000304669:A363T;ENSP00000427821:A363T	ENSP00000304669:A363T	A	+	1	0	CTNNA1	138249824	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.597000	0.67577	1.447000	0.47661	-0.182000	0.12963	GCA		TCGA-IB-7651-01A-11D-2154-08	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	1	0	1	40	506	0	139	1	1	153	752	0	139	2		0	0	0	0	0	2	1	1	39	500	0	137	2								-9.788200	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.880000	0.630000	1.000000	1.000000	0.874884	0.880000	1	7.400000e-01	1
CTNNA1	1495	broad.mit.edu	37	5	138260271	138260271	+	Missense_Mutation	SNP	G	G	A	rs139655691	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138260271G>A	ENST00000302763.7	+	12	1709	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R540H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa			52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		GGCCTGGACCGCACAGCTGGT	0.498000																								0							SO:0001583	missense			ENST00000302763.7	1	1	hg19	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189748	0.78789	0.0	2.33E-4	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	L	0.45285	1.41	0.80722	D	1	B;B;B	0.13594	0.008;0.005;0.001	B;B;B	0.16722	0.016;0.011;0.013	T	0.05818	-1.0862	10	0.29301	T	0.29	-9.4098	19.3816	0.94540	0.0:0.0:1.0:0.0	.	540;417;540	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	437;540;540;525;540;170	ENSP00000347190:R437H;ENSP00000304669:R540H;ENSP00000427821:R540H;ENSP00000438476:R170H	ENSP00000304669:R540H	R	+	2	0	CTNNA1	138288170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	1	0	1	29	141	0	34	1	1	430	934	0	34	2		0	0	0	0	0	2	1	1	28	139	0	34	2								-3.164800	1	1	121412	5	36	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
CTNNA1	1495	broad.mit.edu	37	5	138264950	138264950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138264950G>A	ENST00000302763.7	+	14	2005	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	CTNNA1_ENST00000518825.1_Missense_Mutation_p.D639N|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa			52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		TGAGGAGTTGGATGACTCTGA	0.572000																								0							SO:0001583	missense			ENST00000302763.7	1	1	hg19	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265546	0.95399	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.65498	2.005	0.80722	D	1	P;P;B	0.36412	0.552;0.464;0.316	B;B;B	0.42087	0.274;0.375;0.245	T	0.35126	-0.9801	10	0.38643	T	0.18	-21.8087	19.3974	0.94612	0.0:0.0:1.0:0.0	.	639;516;639	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	N	536;639;639;624;639;269	ENSP00000347190:D536N;ENSP00000304669:D639N;ENSP00000427821:D639N;ENSP00000438476:D269N	ENSP00000304669:D639N	D	+	1	0	CTNNA1	138292849	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	1	0	1	46	596	0	117	1	1	183	1133	0	117	2		0	0	0	0	0	2	1	1	46	589	0	117	2								-10.445300	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.860000	0.630000	1.000000	1.000000	0.861391	0.860000	1	7.300000e-01	1
SIL1	64374	broad.mit.edu	37	5	138356876	138356876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138356876C>T	ENST00000394817.2	-	7	890	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor			13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		AAGGCAGCGCCCAGCACAAAC	0.527000									Marinesco-Sjgren syndrome															0							SO:0001583	missense	Familial Cancer Database	Marinesco-Sjogren syndrome	ENST00000394817.2	1	1	hg19	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089502	0.94149	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000505945	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.80183	2.485	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.72421	-0.4299	10	0.33141	T	0.24	-34.4582	19.0941	0.93242	0.0:1.0:0.0:0.0	.	57;258;251	A0RZB6;D6REA1;Q9H173	.;.;SIL1_HUMAN	S	251;251;166;258;57	ENSP00000378294:G251S;ENSP00000265195:G251S;ENSP00000426858:G258S;ENSP00000425136:G57S	ENSP00000265195:G251S	G	-	1	0	SIL1	138384775	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.265000	0.72534	2.669000	0.90835	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	1	0	1	50	251	0	82	1	1	73	207	0	82	2		0	0	0	0	0	2	1	1	49	245	0	81	2								-3.000389	1	1	121412	2	32	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MATR3	9782	broad.mit.edu	37	5	138643992	138643992	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138643992T>C	ENST00000394805.3	+	2	1223	c.888T>C	c.(886-888)tgT>tgC	p.C296C	MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000509990.1_Silent_p.C296C|MATR3_ENST00000394800.2_Silent_p.C296C|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3			29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		GCTCTATATGTGATTTGCCAG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000394805.3	1	1	hg19	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	T	2.205	-0.382054	0.04966	.	.	ENSG00000015479	ENST00000515833	.	.	.	5.4	4.23	0.50019	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59568	-0.7430	4	.	.	.	-10.153	10.9343	0.47237	0.0:0.0738:0.0:0.9262	.	.	.	.	A	70	.	.	V	+	2	0	MATR3	138671891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.243000	0.58721	2.171000	0.68590	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	1	0	1	169	708	0	170	1	1	78	238	0	170	2		0	0	0	0	0	2	1	1	167	695	0	169	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECSCR	641700	broad.mit.edu	37	5	138837382	138837382	+	Silent	SNP	G	G	A	rs147720581	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138837382G>A	ENST00000515823.1	-	3	189	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator								GACTTAGACCGCCAAGGCCTC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000515823.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ECSCR-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372342.1	0	0	1	14	66	0	21	0	9.993517e-01	1	64	0	21	2		0	0	0	0	0	2	1	9.997791e-01	14	62	0	21	2								-3.490409	1	1	120956	21	40	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999298	0.990000	1	9.900000e-01	1
TMEM173	340061	broad.mit.edu	37	5	138860390	138860390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860390G>A	ENST00000330794.4	-	5	838	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173			9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		AGGATCAGCCGCAGATATCCG	0.517000																								0							SO:0001583	missense			ENST00000330794.4	1	1	hg19	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437981	0.62955	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.26223	1.75;1.75	4.4	-0.251	0.13003	.	0.490146	0.20599	N	0.089186	T	0.38585	0.1046	M	0.63428	1.95	0.35366	D	0.788627	D	0.71674	0.998	P	0.56700	0.804	T	0.56685	-0.7938	10	0.87932	D	0	-16.9345	13.4541	0.61189	0.0:0.0:0.3906:0.6094	.	169	Q86WV6	TM173_HUMAN	W	169	ENSP00000331288:R169W;ENSP00000427455:R169W	ENSP00000331288:R169W	R	-	1	2	TMEM173	138840574	0.999000	0.42202	0.997000	0.53966	0.921000	0.55340	0.573000	0.23699	0.091000	0.17302	-0.314000	0.08810	CGG		TCGA-IB-7651-01A-11D-2154-08	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	1	0	1	33	133	0	39	1	1	11	203	0	39	2		0	0	0	0	0	2	1	1	31	131	0	39	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM173	340061	broad.mit.edu	37	5	138860412	138860412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860412C>T	ENST00000330794.4	-	5	816	c.483G>A	c.(481-483)tgG>tgA	p.W161*	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173			9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		TGTAATATGACCATGCCAGCC	0.562000																								0							SO:0001587	stop_gained			ENST00000330794.4	0	1	hg19	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777147	0.96929	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	.	.	.	4.56	4.56	0.56223	.	0.071294	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2374	17.106	0.86663	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000331288:W161X	W	-	3	0	TMEM173	138840596	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.888000	0.69758	2.363000	0.80096	0.561000	0.74099	TGG		TCGA-IB-7651-01A-11D-2154-08	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	1	0	0	36	150	0	50	1	1	8	200	0	50	2		0	0	0	0	0	2	1	1	34	146	0	50	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSD2	84249	broad.mit.edu	37	5	139189208	139189208	+	Silent	SNP	G	G	A	rs138202504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139189208G>A	ENST00000274710.3	+	2	388	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2			38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGGAACCCACGAAGGACCCAG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000274710.3	1	1	hg19	CCDS4216.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	1	0	1	53	255	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	53	253	0	76	2								-20.000000	1	1	121412	5	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PURA	5813	broad.mit.edu	37	5	139494240	139494240	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139494240T>G	ENST00000331327.3	+	1	533	c.474T>G	c.(472-474)gaT>gaG	p.D158E		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACTACATGGATCTCAAGGAGA	0.706000																								0							SO:0001583	missense			ENST00000331327.3	1	1	hg19	CCDS4220.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769690	0.90020	.	.	ENSG00000185129	ENST00000331327	T	0.50277	0.75	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76203	-0.3045	10	0.59425	D	0.04	-3.9698	14.3864	0.66947	0.0:0.0:0.0:1.0	.	158	Q00577	PURA_HUMAN	E	158	ENSP00000332706:D158E	ENSP00000332706:D158E	D	+	3	2	PURA	139474424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	2.073000	0.62155	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	1	0	1	42	171	0	28	1	1.053251e-01	2	1	0	28	2		0	0	0	0	0	2	1	1	42	168	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFDN1	5201	broad.mit.edu	37	5	139661041	139661041	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139661041T>G	ENST00000261813.4	-	3	325	c.278A>C	c.(277-279)gAa>gCa	p.E93A	PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A|PFDN1_ENST00000514611.1_Intron|PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_Intron	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1			6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TACTTCTAGTTCTTTAATTTT	0.328000																								0							SO:0001583	missense			ENST00000261813.4	1	1	hg19	CCDS4222.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124391	0.37533	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	T;T	0.45276	0.9;0.9	5.8	5.8	0.92144	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.37897	1.145	0.80722	D	1	B	0.17667	0.023	B	0.21151	0.033	T	0.13072	-1.0523	10	0.08837	T	0.75	-12.5849	14.3845	0.66934	0.0:0.0:0.0:1.0	.	93	O60925	PFD1_HUMAN	A	93	ENSP00000261813:E93A;ENSP00000428707:E93A	ENSP00000261813:E93A	E	-	2	0	PFDN1	139641225	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.285000	0.65633	2.221000	0.72209	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251354.3	1	0	1	36	120	0	26	1	1	77	209	0	26	2		0	0	0	0	0	2	1	1	34	119	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKHD1	54882	broad.mit.edu	37	5	139818087	139818087	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139818087G>T	ENST00000360839.2	+	3	656	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	ANKHD1_ENST00000297183.6_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1			60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGCTTTTGCAGATCCTGAGGT	0.433000																								0							SO:0001583	missense			ENST00000360839.2	0	1	hg19	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.876600|4.876600	0.91664|0.91664	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000511151|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	.|T;T;T;T;T;T	.|0.73789	.|-0.75;-0.78;-0.6;-0.4;-0.28;-0.78	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.123818	.|0.51477	.|D	.|0.000086	.|T	.|0.81380	.|0.4810	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;D;D;P;D	.|0.76494	.|0.917;0.999;0.999;0.917;0.973	.|P;D;D;P;P	.|0.81914	.|0.776;0.995;0.995;0.851;0.894	.|T	.|0.83144	.|-0.0107	.|10	.|0.72032	.|D	.|0.01	.|.	19.2594|19.2594	0.93961|0.93961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168;168;168;157;168	.|Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.|.;.;ANKH1_HUMAN;.;.	.|Y	-1|168;182;168;168;168;168;157;168	.|ENSP00000354085:D168Y;ENSP00000297183:D168Y;ENSP00000394489:D168Y;ENSP00000378212:D168Y;ENSP00000378211:D157Y;ENSP00000432016:D168Y	.|ENSP00000432016:D168Y	.|D	+|+	.|1	.|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139798271|139798271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.684000|9.684000	0.98659|0.98659	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	.|GAT		TCGA-IB-7651-01A-11D-2154-08	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	1	0	1	87	767	0	168	1	9.991114e-01	17	74	0	168	2		0	0	0	0	0	2	1	1	86	755	0	168	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.980000	1.000000	1.000000	0.998588	0.990000	1	9.900000e-01	1
ANKHD1	54882	broad.mit.edu	37	5	139876204	139876204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876204C>T	ENST00000360839.2	+	15	2499	c.2345C>T	c.(2344-2346)aCt>aTt	p.T782I	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I|ANKHD1_ENST00000297183.6_Missense_Mutation_p.T782I	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1			60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GTAGAGGAGACTGAAGGCAAG	0.453000																								0							SO:0001583	missense			ENST00000360839.2	1	1	hg19	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788684	0.70337	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.69040	-0.34;-0.37;-0.29;-0.37	5.76	5.76	0.90799	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	L	0.51422	1.61	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.66351	0.943;0.941;0.941	T	0.77247	-0.2658	10	0.51188	T	0.08	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	782;782;782	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	I	782;815;782;782;316;801;782	ENSP00000354085:T782I;ENSP00000297183:T782I;ENSP00000394489:T801I;ENSP00000432016:T782I	ENSP00000432016:T782I	T	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856388	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	ACT		TCGA-IB-7651-01A-11D-2154-08	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	1	0	1	86	347	0	85	1	9.999998e-01	34	57	0	85	2		0	0	0	0	0	2	1	1	86	330	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKHD1	54882	broad.mit.edu	37	5	139876462	139876462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876462C>T	ENST00000360839.2	+	15	2757	c.2603C>T	c.(2602-2604)tCt>tTt	p.S868F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S868F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1			60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GACACAGTGTCTCTACACCAA	0.448000																								0							SO:0001583	missense			ENST00000360839.2	1	1	hg19	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724921	0.15439	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.65916	-0.13;-0.18;-0.09;-0.18	5.46	2.68	0.31781	Ankyrin repeat-containing domain (1);	0.692985	0.14036	N	0.345792	T	0.40398	0.1115	N	0.08118	0	0.21878	N	0.999491	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34079	-0.9843	10	0.56958	D	0.05	.	9.5072	0.39053	0.0:0.6112:0.0:0.3888	.	868;868;868	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	F	868;901;868;868;402;887;868	ENSP00000354085:S868F;ENSP00000297183:S868F;ENSP00000394489:S887F;ENSP00000432016:S868F	ENSP00000432016:S868F	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856646	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.699000	0.37804	0.788000	0.33755	0.585000	0.79938	TCT		TCGA-IB-7651-01A-11D-2154-08	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	0	0	0	13	449	0	117	1	6.418539e-01	3	72	0	117	2		0	0	0	0	0	2	1	9.995189e-01	13	445	0	116	2								-3.422296	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.350000	0.190000	1.000000	0.330000	0.401047	0.350000	0	2.600000e-01	4.800000e-01
APBB3	10307	broad.mit.edu	37	5	139938323	139938323	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139938323C>A	ENST00000357560.4	-	13	1751	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000508496.2_Missense_Mutation_p.K213N|APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000358580.5_3'UTR|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3			11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGCTGGTCCGCTTGAGCCGCA	0.662000																								0							SO:0001583	missense			ENST00000357560.4	1	1	hg19	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601921	0.66445	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.52057	1.69;1.69;1.7;0.68;1.7	4.76	2.93	0.34026	.	0.567069	0.17031	N	0.189702	T	0.40398	0.1115	L	0.44542	1.39	0.80722	D	1	D;P	0.55800	0.973;0.943	P;P	0.47864	0.559;0.522	T	0.21008	-1.0258	9	.	.	.	-7.5614	4.3405	0.11108	0.0:0.6128:0.2073:0.1799	.	434;441	O95704-2;O95704-3	.;.	N	441;443;436;213;434	ENSP00000349177:K441N;ENSP00000346378:K443N;ENSP00000350171:K436N;ENSP00000444013:K213N;ENSP00000402591:K434N	.	K	-	3	2	APBB3	139918507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.707000	0.37888	0.973000	0.38340	0.455000	0.32223	AAG		TCGA-IB-7651-01A-11D-2154-08	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	1	0	0	36	359	0	56	1	8.012373e-01	7	25	0	56	2		0	0	0	0	0	2	1	1	36	351	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.780000	1.000000	1.000000	0.972033	0.990000	1	9.200000e-01	1
APBB3	10307	broad.mit.edu	37	5	139942032	139942032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139942032G>A	ENST00000357560.4	-	5	847	c.404C>T	c.(403-405)gCa>gTa	p.A135V	APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.A135V|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|SLC35A4_ENST00000514199.1_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3			11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTTCCCCGGTGCCAGGTCCTC	0.582000																								0							SO:0001583	missense			ENST00000357560.4	1	1	hg19	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058791	0.55325	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.12	2.14	0.27477	.	0.254754	0.39985	N	0.001220	T	0.20170	0.0485	L	0.61218	1.895	0.35821	D	0.824607	B;B	0.15141	0.001;0.012	B;B	0.09377	0.001;0.004	T	0.13872	-1.0493	9	.	.	.	-0.5437	10.3978	0.44211	0.2033:0.0:0.7967:0.0	.	135;135	O95704-2;O95704-3	.;.	V	135	ENSP00000351389:A135V;ENSP00000349177:A135V;ENSP00000346378:A135V;ENSP00000350171:A135V;ENSP00000402591:A135V;ENSP00000424317:A135V	.	A	-	2	0	APBB3	139922216	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.725000	0.61979	0.113000	0.18004	-0.142000	0.14014	GCA		TCGA-IB-7651-01A-11D-2154-08	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	1	0	1	195	977	0	237	1	9.855555e-01	7	28	0	237	2		0	0	0	0	0	2	1	1	193	961	0	237	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APBB3	10307	broad.mit.edu	37	5	139943436	139943436	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139943436G>A	ENST00000357560.4	-	2	557	c.114C>T	c.(112-114)atC>atT	p.I38I	APBB3_ENST00000354402.5_Silent_p.I38I|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Silent_p.I38I|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000358580.5_Silent_p.I38I|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000356738.2_Silent_p.I38I|SLC35A4_ENST00000514199.1_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3			11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CAGCATCGTGGATCTTCCTCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000357560.4	1	1	hg19	CCDS4229.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	1	0	1	44	199	0	42	1	9.895629e-01	8	27	0	42	2		0	0	0	0	0	2	1	1	44	195	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35A4	113829	broad.mit.edu	37	5	139947164	139947164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947164G>A	ENST00000514199.1	+	2	2096	c.410G>A	c.(409-411)cGc>cAc	p.R137H	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H|APBB3_ENST00000357560.4_5'Flank			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	p.R137L(1)		13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTCCGGCACCGCCTCTCTGTG	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000514199.1	1	1	hg19	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856334	0.51376	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.49720	0.77;0.77	5.11	4.23	0.50019	.	0.062145	0.64402	N	0.000009	T	0.46521	0.1397	M	0.72894	2.215	0.53005	D	0.999962	B	0.31351	0.32	B	0.29942	0.109	T	0.44097	-0.9350	9	.	.	.	.	13.2176	0.59869	0.0774:0.0:0.9226:0.0	.	137	Q96G79	S35A4_HUMAN	H	137	ENSP00000327133:R137H;ENSP00000424566:R137H	.	R	+	2	0	SLC35A4	139927348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.395000	0.79876	1.381000	0.46364	0.514000	0.50259	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	1	0	1	83	274	0	74	1	1	49	163	0	74	2		0	0	0	0	0	2	1	1	83	269	0	73	2								-20.000000	1	1	121412	4	36	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35A4	113829	broad.mit.edu	37	5	139947326	139947326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947326T>C	ENST00000514199.1	+	2	2258	c.572T>C	c.(571-573)cTc>cCc	p.L191P	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4			13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGCCTGCTGCTCCTCATTCTG	0.612000																								0							SO:0001583	missense			ENST00000514199.1	1	1	hg19	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493211	0.26774	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.48201	0.82;0.82	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000004	T	0.66426	0.2788	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68135	-0.5489	9	.	.	.	-9.4098	13.9451	0.64080	0.0:0.0:0.0:1.0	.	191	Q96G79	S35A4_HUMAN	P	191	ENSP00000327133:L191P;ENSP00000424566:L191P	.	L	+	2	0	SLC35A4	139927510	1.000000	0.71417	0.962000	0.40283	0.427000	0.31564	7.487000	0.81328	1.961000	0.56991	0.379000	0.24179	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	1	0	1	130	514	0	134	1	1	63	173	0	134	2		0	0	0	0	0	2	1	1	129	503	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD14	929	broad.mit.edu	37	5	140011662	140011662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140011662C>T	ENST00000302014.6	-	2	1536	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CD14_ENST00000401743.2_Missense_Mutation_p.D303N	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule			6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CAGCTGAGATCGAGCACTCTG	0.602000																								0							SO:0001583	missense			ENST00000302014.6	1	1	hg19	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375894	0.61735	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	T;T	0.19938	2.11;2.11	6.06	4.2	0.49525	.	0.000000	0.51477	D	0.000087	T	0.19805	0.0476	M	0.64404	1.975	0.30579	N	0.762722	P	0.41947	0.766	B	0.36504	0.226	T	0.29150	-1.0021	10	0.87932	D	0	-14.6982	7.7506	0.28894	0.0:0.7523:0.1631:0.0846	.	303	P08571	CD14_HUMAN	N	303	ENSP00000304236:D303N;ENSP00000385519:D303N	ENSP00000304236:D303N	D	-	1	0	CD14	139991846	0.364000	0.24997	0.607000	0.28956	0.961000	0.63080	1.209000	0.32357	1.584000	0.49913	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	0	0	1	58	267	0	65	1	1	9	525	0	65	2		0	0	0	0	0	2	1	1	58	262	0	63	2								-3.403522	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMCO6	55374	broad.mit.edu	37	5	140023463	140023463	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140023463G>T	ENST00000394671.3	+	9	1118	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	TMCO6_ENST00000252100.6_Silent_p.V345V|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.V99V	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6			9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGCGTGTTGTGGCAGCCTTAT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000394671.3	1	1	hg19	CCDS4233.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	1	0	1	81	310	0	78	1	9.998977e-01	12	41	0	78	2		0	0	0	0	0	2	1	1	80	306	0	78	2								-3.606362	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IK	3550	broad.mit.edu	37	5	140040342	140040342	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140040342G>T	ENST00000417647.2	+	16	1494		c.e16-1			NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II			1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTTCTCCTTAGGATGGATGAC	0.463000																								0							SO:0001630	splice_region_variant			ENST00000417647.2	1	1	hg19	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086207	0.76642	.	.	ENSG00000113141	ENST00000417647	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7911	0.85589	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IK	140020526	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.609000	0.98334	2.261000	0.74972	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	0	0	1	47	246	1	65	0	0	1	0	1	65	2		0	0	0	0	0	2	1	9.999941e-01	45	238	1	65	15								-2.900321	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
WDR55	54853	broad.mit.edu	37	5	140048517	140048517	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140048517G>A	ENST00000358337.5	+	5	839	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55			9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AAGAGGCGTCGGTTTGAGCTG	0.527000																								0							SO:0001583	missense			ENST00000358337.5	1	1	hg19	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879096	0.72294	.	.	ENSG00000120314	ENST00000358337	T	0.28069	1.63	5.44	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.42471	0.1204	M	0.66939	2.045	0.53005	D	0.999968	D;D	0.69078	0.993;0.997	P;P	0.58331	0.837;0.808	T	0.46596	-0.9180	10	0.05525	T	0.97	-10.756	13.3211	0.60434	0.0779:0.0:0.922:0.0	.	40;201	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	Q	201	ENSP00000351100:R201Q	ENSP00000351100:R201Q	R	+	2	0	WDR55	140028701	1.000000	0.71417	0.993000	0.49108	0.485000	0.33311	9.449000	0.97603	1.289000	0.44618	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	1	0	1	67	297	0	65	1	9.999997e-01	33	66	0	65	2		0	0	0	0	0	2	1	1	65	291	0	63	2								-2.760043	1	1	121412	2	36	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR55	54853	broad.mit.edu	37	5	140049193	140049193	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140049193C>A	ENST00000358337.5	+	7	1343	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55			9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGAGAAGACTCCATGGCTCAG	0.527000																								0							SO:0001583	missense			ENST00000358337.5	1	1	hg19	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	C	4.703	0.130747	0.08981	.	.	ENSG00000120314	ENST00000358337	T	0.30448	1.53	5.08	3.28	0.37604	.	2.952420	0.01434	U	0.014845	T	0.23926	0.0579	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.20140	-1.0284	10	0.62326	D	0.03	1.6088	5.5687	0.17184	0.2574:0.5876:0.0:0.155	.	369	Q9H6Y2	WDR55_HUMAN	Y	369	ENSP00000351100:S369Y	ENSP00000351100:S369Y	S	+	2	0	WDR55	140029377	0.000000	0.05858	0.031000	0.17742	0.426000	0.31534	1.067000	0.30616	1.124000	0.41980	-0.444000	0.05651	TCC		TCGA-IB-7651-01A-11D-2154-08	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	1	0	1	23	121	0	43	1	9.999996e-01	41	100	0	43	2		0	0	0	0	0	2	1	9.999996e-01	22	119	0	42	2								-14.017800	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999866	0.990000	1	9.900000e-01	1
HARS	3035	broad.mit.edu	37	5	140056961	140056961	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140056961G>A	ENST00000504156.1	-	8	1493	c.774C>T	c.(772-774)ggC>ggT	p.G258G	HARS_ENST00000448240.1_Silent_p.G63G|HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000415192.2_Silent_p.G184G|HARS_ENST00000504366.1_Silent_p.G189G|HARS_ENST00000457527.2_Silent_p.G238G	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase			19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	L-Histidine(DB00117)	CAGGTGCAAGGCCCTTCTCTC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000504156.1	1	1	hg19	CCDS4237.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	1	0	1	87	442	0	111	1	1	78	184	0	111	2		0	0	0	0	0	2	1	1	85	430	0	110	2								-3.151657	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA1	56147	broad.mit.edu	37	5	140167711	140167711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140167711G>T	ENST00000504120.2	+	1	1836	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1			70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATGAACTGCAGCCGGCAGCAG	0.677000																								0							SO:0001583	missense			ENST00000504120.2	1	1	hg19	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	0.136	-1.107277	0.01813	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52526	0.66;0.66	3.5	1.63	0.23807	Cadherin (4);Cadherin-like (1);	1.601980	0.05045	U	0.476965	T	0.34454	0.0898	L	0.33668	1.02	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.20577	0.03;0.013	T	0.25641	-1.0126	10	0.40728	T	0.16	.	0.9002	0.01272	0.3148:0.1704:0.3632:0.1517	.	612;612	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	H	612	ENSP00000420840:Q612H;ENSP00000367373:Q612H	ENSP00000367373:Q612H	Q	+	3	2	PCDHA1	140147895	0.005000	0.15991	0.005000	0.12908	0.005000	0.04900	1.399000	0.34566	0.113000	0.18004	-0.439000	0.05793	CAG		TCGA-IB-7651-01A-11D-2154-08	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	1	0	1	141	568	0	117	0	0	1	0	0	117	2		0	0	0	0	0	2	1	1	141	554	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA2	56146	broad.mit.edu	37	5	140175911	140175911	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175911G>A	ENST00000526136.1	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA2_ENST00000520672.2_Silent_p.A454A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.A454A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACGCGCCGGCGTTCGCACAGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000526136.1	1	1	hg19	CCDS54914.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1	127	559	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	124	556	0	114	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA2	56146	broad.mit.edu	37	5	140175956	140175956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175956G>A	ENST00000526136.1	+	1	1407	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHA2_ENST00000520672.2_Silent_p.P469P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P469P|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGAACAACCCGCCGGGCTGCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000526136.1	1	1	hg19	CCDS54914.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1	140	548	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	138	536	0	100	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA2	56146	broad.mit.edu	37	5	140176178	140176178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176178G>A	ENST00000526136.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA2_ENST00000520672.2_Silent_p.P543P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGGGCGTGCCGCCTCTGGGCA	0.692000																								0							SO:0001819	synonymous_variant			ENST00000526136.1	1	1	hg19	CCDS54914.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	0	137	579	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1	135	549	1	170	15								-20.000000	1	1	121118	1	39	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA2	56146	broad.mit.edu	37	5	140176294	140176294	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176294C>T	ENST00000526136.1	+	1	1745	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHA2_ENST00000520672.2_Missense_Mutation_p.P582L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GAGCTGGTGCCGTGGTCGGTG	0.657000																								0							SO:0001583	missense			ENST00000526136.1	1	1	hg19	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	7.812	0.715864	0.15306	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.39229	1.09;1.09;1.09	3.91	2.96	0.34315	Cadherin (1);Cadherin-like (1);	0.689444	0.11686	U	0.539348	T	0.31827	0.0809	L	0.28608	0.87	0.23351	N	0.997858	B;B;B	0.30406	0.236;0.278;0.236	B;B;B	0.24269	0.021;0.052;0.046	T	0.27331	-1.0077	10	0.59425	D	0.04	.	13.5997	0.62011	0.0:0.8437:0.1563:0.0	.	582;582;582	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	582	ENSP00000430584:P582L;ENSP00000367372:P582L;ENSP00000431748:P582L	ENSP00000367372:P582L	P	+	2	0	PCDHA2	140156478	0.005000	0.15991	0.006000	0.13384	0.003000	0.03518	2.184000	0.42575	1.917000	0.55516	0.549000	0.68633	CCG		TCGA-IB-7651-01A-11D-2154-08	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1	117	512	0	114	0	0	0	1	0	114	2		0	0	0	0	0	2	1	1	114	505	0	112	2								-3.017429	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA2	56146	broad.mit.edu	37	5	140176734	140176734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176734G>A	ENST00000526136.1	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA2_ENST00000520672.2_Missense_Mutation_p.E729K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCCACCCACCGAGGGTGCGCG	0.662000																								0							SO:0001583	missense			ENST00000526136.1	1	1	hg19	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	6.745	0.506288	0.12883	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.13657	2.57;2.57;2.57	2.91	1.05	0.20165	.	1.627180	0.04542	U	0.388267	T	0.24736	0.0600	M	0.89601	3.045	0.09310	N	1	B;B;B	0.24368	0.102;0.064;0.1	B;B;B	0.23852	0.049;0.024;0.046	T	0.36335	-0.9752	10	0.54805	T	0.06	.	5.3552	0.16057	0.4654:0.0:0.5346:0.0	.	729;729;729	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	729	ENSP00000430584:E729K;ENSP00000367372:E729K;ENSP00000431748:E729K	ENSP00000367372:E729K	E	+	1	0	PCDHA2	140156918	0.051000	0.20477	0.128000	0.21923	0.009000	0.06853	0.980000	0.29513	0.262000	0.21774	0.585000	0.79938	GAG		TCGA-IB-7651-01A-11D-2154-08	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1	136	544	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	135	538	0	98	2								-3.332275	1	1	121374	1	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA3	56145	broad.mit.edu	37	5	140182308	140182308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140182308C>T	ENST00000522353.2	+	1	1526	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3			95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGCTACGTGTCGGTACACGCG	0.697000																								0							SO:0001583	missense			ENST00000522353.2	1	1	hg19	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	19.17	3.775803	0.70107	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53857	0.6;0.6	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.38663	U	0.001610	T	0.74816	0.3766	M	0.79926	2.475	0.30931	N	0.72689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.77816	-0.2447	10	0.87932	D	0	.	18.1666	0.89729	0.0:1.0:0.0:0.0	.	509;509	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	509	ENSP00000429808:S509L;ENSP00000434086:S509L	ENSP00000429808:S509L	S	+	2	0	PCDHA3	140162492	0.685000	0.27652	0.996000	0.52242	0.848000	0.48234	1.360000	0.34125	2.374000	0.81015	0.461000	0.40582	TCG		TCGA-IB-7651-01A-11D-2154-08	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	1	0	1	171	744	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	169	730	0	125	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA5	56143	broad.mit.edu	37	5	140202462	140202462	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202462A>G	ENST00000529859.1	+	1	1102	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5			60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CAGCACGGTCATTGCTCTGAT	0.537000																								0							SO:0001583	missense			ENST00000529859.1	1	1	hg19	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.614497	0.00835	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.41758	0.99;0.99;0.99	3.84	3.84	0.44239	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28067	0.0692	N	0.02357	-0.585	0.24350	N	0.994924	B;B;B	0.27971	0.196;0.163;0.163	P;B;B	0.46208	0.507;0.133;0.21	T	0.40136	-0.9579	9	0.38643	T	0.18	.	4.7341	0.12979	0.7127:0.0:0.2873:0.0	.	368;368;368	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	368	ENSP00000433416:I368V;ENSP00000436557:I368V;ENSP00000367366:I368V	ENSP00000367366:I368V	I	+	1	0	PCDHA5	140182646	0.615000	0.27026	0.168000	0.22838	0.075000	0.17131	1.124000	0.31320	1.492000	0.48499	0.460000	0.39030	ATT		TCGA-IB-7651-01A-11D-2154-08	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	1	0	1	111	443	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	109	436	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA5	56143	broad.mit.edu	37	5	140202725	140202725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202725G>A	ENST00000529859.1	+	1	1365	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5			60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGGCGTTCGCGCAGCCCCAGT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000529859.1	1	1	hg19	CCDS54917.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	0	0	0	28	740	0	149	0	0	0	1	0	149	2		0	0	0	0	0	2	1	1	28	735	0	146	2								-3.561316	1	1	121412	1	36	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.440000	0.290000	1.000000	0.440000	0.484213	0.440000	0	3.600000e-01	5.500000e-01
PCDHA5	56143	broad.mit.edu	37	5	140203604	140203604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140203604G>A	ENST00000529859.1	+	1	2244	c.2244G>A	c.(2242-2244)tcG>tcA	p.S748S	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	p.S748S(2)		60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGAGCTGGTCGTACTCGCAGC	0.647000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000529859.1	1	1	hg19	CCDS54917.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	1	0	1	68	256	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	69	252	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA6	56142	broad.mit.edu	37	5	140208858	140208858	+	Silent	SNP	T	T	C	rs393935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140208858T>C	ENST00000529310.1	+	1	1296	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6			89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTCACGTCCCTTTCAAGCTGG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000529310.1	0	1	hg19	CCDS47281.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	0	0	0	25	1247	0	238	0	4.321729e-04	0	2	0	238	2		0	0	0	0	0	2	1	9.999998e-01	23	1233	0	236	2								-2.383048	0	1	121412	2	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.230000	0.150000	1.000000	0.230000	0.296235	0.230000	0	1.900000e-01	3.100000e-01
PCDHA7	56141	broad.mit.edu	37	5	140214937	140214937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140214937C>T	ENST00000525929.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7			63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCGAGGCTGTCGATAAAGGCT	0.473000													NSCLC(160;258 2013 5070 22440 28951)											0							SO:0001819	synonymous_variant			ENST00000525929.1	1	1	hg19	CCDS54918.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	1	0	0	64	274	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	1	64	265	0	84	2								-3.396478	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA8	56140	broad.mit.edu	37	5	140221663	140221663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140221663G>A	ENST00000531613.1	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AAGAATATTCGAAAACGCAGA	0.433000																								0							SO:0001583	missense			ENST00000531613.1	1	1	hg19	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174784	0.94807	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.76316	-1.01;-1.01	3.73	3.73	0.42828	Cadherin (4);Cadherin-like (1);	0.000000	0.37715	U	0.001967	D	0.93973	0.8070	H	0.99929	4.97	0.44168	D	0.99697	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97151	0.9831	10	0.87932	D	0	.	15.9435	0.79776	0.0:0.0:1.0:0.0	.	253;253	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	253	ENSP00000434655:E253K;ENSP00000367363:E253K	ENSP00000367363:E253K	E	+	1	0	PCDHA8	140201847	1.000000	0.71417	0.475000	0.27278	0.191000	0.23601	7.880000	0.87243	1.799000	0.52666	0.558000	0.71614	GAA		TCGA-IB-7651-01A-11D-2154-08	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	1	0	1	40	333	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	40	327	0	67	2								-15.066060	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.930000	1.000000	1.000000	0.996228	0.990000	1	9.900000e-01	1
PCDHA8	56140	broad.mit.edu	37	5	140222350	140222350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140222350G>A	ENST00000531613.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGCGCGAGACGCGGACGCGCA	0.657000																								0							SO:0001583	missense			ENST00000531613.1	1	1	hg19	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	9.302	1.053320	0.19907	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61859	0.07;0.07	3.72	2.74	0.32292	Cadherin (4);Cadherin-like (1);	0.226336	0.21629	U	0.071513	T	0.49167	0.1541	L	0.48935	1.535	0.09310	N	1	B;B	0.33171	0.187;0.4	B;B	0.36719	0.231;0.226	T	0.49457	-0.8938	10	0.62326	D	0.03	.	8.1567	0.31173	0.0:0.279:0.5938:0.1271	.	482;482	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	482	ENSP00000434655:A482T;ENSP00000367363:A482T	ENSP00000367363:A482T	A	+	1	0	PCDHA8	140202534	0.000000	0.05858	0.911000	0.35937	0.055000	0.15305	-0.225000	0.09151	1.790000	0.52503	0.306000	0.20318	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	1	0	0	115	602	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	1	105	545	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA9	9752	broad.mit.edu	37	5	140229419	140229419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229419G>A	ENST00000532602.1	+	1	2372	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D447N|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9			59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGAGGTGGCCGACGTGAACGA	0.667000													Melanoma(55;1800 1972 14909)											0							SO:0001583	missense			ENST00000532602.1	1	1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557030	0.86231	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	D;D	0.84298	-1.83;-1.83	3.56	3.56	0.40772	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.94614	0.8264	H	0.96048	3.76	0.43107	D	0.994801	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96709	0.9524	10	0.87932	D	0	.	15.7535	0.78005	0.0:0.0:1.0:0.0	.	447;447	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	447	ENSP00000436042:D447N;ENSP00000367362:D447N	ENSP00000367362:D447N	D	+	1	0	PCDHA9	140209603	1.000000	0.71417	0.999000	0.59377	0.637000	0.38172	8.897000	0.92532	1.973000	0.57446	0.306000	0.20318	GAC		TCGA-IB-7651-01A-11D-2154-08	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1	87	733	0	148	0	0	0	1	0	148	2		0	0	0	0	0	2	1	1	86	727	0	146	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999467	0.990000	1	9.900000e-01	1
PCDHA9	9752	broad.mit.edu	37	5	140229528	140229528	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229528A>G	ENST00000532602.1	+	1	2481	c.1448A>G	c.(1447-1449)gAc>gGc	p.D483G	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D483G|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9			59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGGGACGCTGACGCGCAGGAG	0.662000													Melanoma(55;1800 1972 14909)											0							SO:0001583	missense			ENST00000532602.1	1	1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971122	0.53614	0.0	1.17E-4	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.74632	-0.86;-0.86	3.56	3.56	0.40772	Cadherin (4);Cadherin-like (1);	0.000000	0.32753	U	0.005685	D	0.91092	0.7196	H	0.98721	4.31	0.43179	D	0.994999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93890	0.7179	10	0.87932	D	0	.	12.6265	0.56632	1.0:0.0:0.0:0.0	.	483;483	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	G	483	ENSP00000436042:D483G;ENSP00000367362:D483G	ENSP00000367362:D483G	D	+	2	0	PCDHA9	140209712	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.623000	0.74238	1.606000	0.50161	0.254000	0.18369	GAC		TCGA-IB-7651-01A-11D-2154-08	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1	160	655	0	147	0	0	0	1	0	147	2		0	0	0	0	0	2	1	1	158	645	0	147	2								-20.000000	1	1	120762	1	27	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA9	9752	broad.mit.edu	37	5	140229786	140229786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229786G>A	ENST00000532602.1	+	1	2739	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R569Q|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9			59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTGACACCTCGGATGAGGGGC	0.711000													Melanoma(55;1800 1972 14909)											0							SO:0001583	missense			ENST00000532602.1	1	1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	1.122	-0.655074	0.03480	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.63417	-0.04;-0.04	2.59	2.59	0.31030	Cadherin-like (1);	0.808617	0.09411	U	0.805753	T	0.35885	0.0947	N	0.10782	0.045	0.09310	N	0.999995	B;D	0.54601	0.008;0.967	B;B	0.31946	0.004;0.138	T	0.07102	-1.0790	10	0.27785	T	0.31	.	12.4556	0.55702	0.0:0.0:1.0:0.0	.	569;569	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	569	ENSP00000436042:R569Q;ENSP00000367362:R569Q	ENSP00000367362:R569Q	R	+	2	0	PCDHA9	140209970	0.000000	0.05858	0.052000	0.19188	0.025000	0.11179	0.195000	0.17155	1.725000	0.51514	0.313000	0.20887	CGG		TCGA-IB-7651-01A-11D-2154-08	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1	130	602	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1	130	600	0	126	2								-2.909570	1	1	120678	5	41	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA9	9752	broad.mit.edu	37	5	140229908	140229908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229908G>A	ENST00000532602.1	+	1	2861	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E610K|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9			59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCTTTCATACGAGCTGCAGCC	0.672000													Melanoma(55;1800 1972 14909)											0							SO:0001583	missense			ENST00000532602.1	1	1	hg19	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599753	0.46318	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.72;0.72	3.51	3.51	0.40186	Cadherin (4);Cadherin-like (1);	0.000000	0.31760	U	0.007116	T	0.61739	0.2371	L	0.60067	1.865	0.20074	N	0.999932	P;D	0.89917	0.945;1.0	P;D	0.80764	0.545;0.994	T	0.52403	-0.8580	10	0.87932	D	0	.	11.4541	0.50171	0.0:0.1816:0.8184:0.0	.	610;610	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	K	610	ENSP00000436042:E610K;ENSP00000367362:E610K	ENSP00000367362:E610K	E	+	1	0	PCDHA9	140210092	0.000000	0.05858	0.968000	0.41197	0.109000	0.19521	0.053000	0.14184	1.934000	0.56057	0.313000	0.20887	GAG		TCGA-IB-7651-01A-11D-2154-08	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1	127	477	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	1	126	472	0	92	2								-3.740280	1	1	120748	1	32	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA10	56139	broad.mit.edu	37	5	140235697	140235697	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140235697G>T	ENST00000307360.5	+	1	64	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10			79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCTCCTCGCAGCCTGGGAGGT	0.597000																								0							SO:0001583	missense			ENST00000307360.5	1	1	hg19	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	1.757	-0.487865	0.04352	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54675	0.56;0.66	4.31	-2.66	0.06077	.	.	.	.	.	T	0.37544	0.1007	L	0.49513	1.565	0.09310	N	1	B;B;P	0.36789	0.272;0.023;0.57	B;B;B	0.33750	0.169;0.023;0.142	T	0.21075	-1.0256	9	0.21540	T	0.41	.	6.4531	0.21914	0.1416:0.0:0.3836:0.4747	.	22;22;22	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	22	ENSP00000421030:A22S;ENSP00000304234:A22S	ENSP00000304234:A22S	A	+	1	0	PCDHA10	140215881	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.159000	0.10056	-0.740000	0.04803	-0.410000	0.06199	GCC		TCGA-IB-7651-01A-11D-2154-08	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1	113	475	0	113	0	1.705173e-01	0	4	0	113	2		0	0	0	0	0	2	1	1	112	468	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA10	56139	broad.mit.edu	37	5	140236636	140236636	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140236636G>A	ENST00000307360.5	+	1	1003	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10			79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCACTGCACGGTCCTAGTGGA	0.418000																								0							SO:0001583	missense			ENST00000307360.5	1	1	hg19	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812823	0.32053	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.59906	0.23;0.23	4.15	3.25	0.37280	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58424	0.2121	L	0.51422	1.61	0.24712	N	0.993192	B;B;B	0.31256	0.316;0.237;0.146	B;B;B	0.41036	0.346;0.181;0.254	T	0.53563	-0.8421	9	0.37606	T	0.19	.	12.8103	0.57635	0.0:0.3147:0.6853:0.0	.	335;335;335	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	I	335	ENSP00000421030:V335I;ENSP00000304234:V335I	ENSP00000304234:V335I	V	+	1	0	PCDHA10	140216820	0.193000	0.23313	0.031000	0.17742	0.713000	0.41058	0.490000	0.22403	1.046000	0.40249	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1	112	448	0	92	1	8.012238e-01	2	12	0	92	2		0	0	0	0	0	2	1	1	111	442	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA10	56139	broad.mit.edu	37	5	140237244	140237244	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237244C>T	ENST00000307360.5	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10			79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGAGCGCGCGCGATGGGGGCG	0.682000																								0							SO:0001819	synonymous_variant			ENST00000307360.5	1	1	hg19	CCDS54921.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1	135	641	0	130	0	0	0	1	0	130	2		0	0	0	0	0	2	1	1	133	622	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA10	56139	broad.mit.edu	37	5	140237378	140237378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237378G>A	ENST00000307360.5	+	1	1745	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10			79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTGGTGCTGCGGTCGGTGGTT	0.657000																								0							SO:0001583	missense			ENST00000307360.5	1	1	hg19	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460291	0.12342	.	.	ENSG00000250120	ENST00000307360	T	0.37915	1.17	3.68	3.68	0.42216	Cadherin-like (1);	.	.	.	.	T	0.25901	0.0631	L	0.39467	1.215	0.09310	N	1	P;B	0.40266	0.71;0.373	B;B	0.31495	0.131;0.089	T	0.14200	-1.0481	9	0.54805	T	0.06	.	9.7713	0.40591	0.0966:0.0:0.9034:0.0	.	582;582	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	Q	582	ENSP00000304234:R582Q	ENSP00000304234:R582Q	R	+	2	0	PCDHA10	140217562	0.000000	0.05858	0.064000	0.19789	0.003000	0.03518	-0.028000	0.12350	2.041000	0.60428	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1	88	323	0	61	0	3.824470e-01	0	6	0	61	2		0	0	0	0	0	2	1	1	85	318	0	61	2								-20.000000	1	1	120612	3	39	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA11	56138	broad.mit.edu	37	5	140249981	140249981	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140249981G>A	ENST00000398640.2	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATGGGGGTTCGCCTTCTCTGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000398640.2	1	1	hg19	CCDS47284.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	1	0	1	223	917	0	213		0	0	0	0	213	2		0	0	0	0	0	2	1	1	221	911	0	207	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHA12	56137	broad.mit.edu	37	5	140255355	140255355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140255355G>A	ENST00000398631.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGGGCGGAGCGCGGAGTGCAG	0.567000													Pancreas(113;759 1672 13322 24104 50104)											0							SO:0001583	missense			ENST00000398631.2	1	1	hg19	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085756	0.20390	.	.	ENSG00000251664	ENST00000398631	T	0.27104	1.69	5.28	-5.31	0.02730	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.13030	0.0316	L	0.35793	1.09	0.09310	N	1	B;B	0.31026	0.078;0.304	B;B	0.15870	0.005;0.014	T	0.15407	-1.0438	9	0.36615	T	0.2	.	4.4904	0.11810	0.2499:0.3713:0.2996:0.0792	.	100;100	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	100	ENSP00000381628:A100T	ENSP00000381628:A100T	A	+	1	0	PCDHA12	140235539	0.000000	0.05858	0.012000	0.15200	0.765000	0.43378	-3.388000	0.00488	-0.988000	0.03489	-1.031000	0.02408	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	0	0	0	54	1381	0	280	0	1.505330e-01	0	18	0	280	2		0	0	0	0	0	2	1	1	51	1287	0	282	2								-4.446638	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.450000	0.330000	1.000000	0.440000	0.492086	0.450000	0	3.900000e-01	5.300000e-01
PCDHA12	56137	broad.mit.edu	37	5	140256686	140256686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140256686G>A	ENST00000398631.2	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCGGCGTGCCGCCTCTGGGCA	0.701000													Pancreas(113;759 1672 13322 24104 50104)											0							SO:0001819	synonymous_variant			ENST00000398631.2	1	1	hg19	CCDS47285.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	1	0	1	209	875	0	155	0	1.709935e-01	0	4	0	155	2		0	0	0	0	0	2	1	1	206	850	0	153	2								-20.000000	1	1	120892	2	39	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHAC1	56135	broad.mit.edu	37	5	140306644	140306644	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140306644G>A	ENST00000253807.2	+	1	167	c.167G>A	c.(166-168)cGc>cAc	p.R56H	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1			65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGGAACTTTCGCTTCCTTTCC	0.647000																								0							SO:0001583	missense			ENST00000253807.2	1	1	hg19	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688480	0.88639	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.38240	1.15;1.15	5.29	4.36	0.52297	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.55737	0.1939	M	0.77313	2.365	0.29161	N	0.877754	D;D	0.89917	1.0;0.998	D;P	0.67231	0.95;0.807	T	0.51957	-0.8639	9	0.48119	T	0.1	.	8.3053	0.32038	0.078:0.0:0.7657:0.1563	.	56;56	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	56	ENSP00000386356:R56H;ENSP00000253807:R56H	ENSP00000253807:R56H	R	+	2	0	PCDHAC1	140286828	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.682000	0.61671	2.460000	0.83146	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	1	0	1	41	174	0	37	1	3.289537e-01	5	1	0	37	2		0	0	0	0	0	2	1	1	40	171	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHAC1	56135	broad.mit.edu	37	5	140307056	140307056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140307056C>T	ENST00000253807.2	+	1	579	c.579C>T	c.(577-579)cgC>cgT	p.R193R	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1			65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CACTGGATCGCGAACAGCGCG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000253807.2	0	1	hg19	CCDS4241.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	0	0	0	13	359	0	66	1	4.421935e-02	3	6	0	66	2		0	0	0	0	0	2	1	9.995292e-01	13	356	0	64	2								-13.077590	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.430000	0.230000	1.000000	0.400000	0.479051	0.430000	0	3.200000e-01	6.000000e-01
SLC6A3	6531	broad.mit.edu	37	5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3			38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)	Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGTAGGCCGCATAGATGGG	0.632000																								0							SO:0001583	missense			ENST00000270349.9	1	1	hg19	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181833	0.57800	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75477	-0.94;-0.94	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.56769	1.78	0.80722	D	1	B	0.28783	0.222	B	0.27076	0.076	T	0.62077	-0.6930	10	0.06757	T	0.87	.	14.0283	0.64599	0.0:0.0:1.0:0.0	.	576	Q01959	SC6A3_HUMAN	V	576	ENSP00000270349:A576V;ENSP00000399806:A576V	ENSP00000270349:A576V	A	-	2	0	SLC6A3	1456077	1.000000	0.71417	0.110000	0.21437	0.909000	0.53808	6.701000	0.74624	1.905000	0.55150	0.298000	0.19748	GCG		TCGA-IB-7651-01A-11D-2154-08	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	1	0	1	28	163	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	27	159	0	35	2								-2.935628	1	1	121408	3	29	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999711	0.990000	1	9.900000e-01	1
PCDHAC1	56135	broad.mit.edu	37	5	140308328	140308328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140308328G>T	ENST00000253807.2	+	1	1851	c.1851G>T	c.(1849-1851)gaG>gaT	p.E617D	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1			65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATATAGGTGAGCTCCGTACTG	0.517000																								0							SO:0001583	missense			ENST00000253807.2	1	1	hg19	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845520	0.32606	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50813	0.73;0.73	5.95	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71108	0.3301	M	0.86097	2.795	0.25743	N	0.985136	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	T	0.64927	-0.6292	9	0.59425	D	0.04	.	13.826	0.63351	0.1851:0.0:0.8149:0.0	.	617;617	Q9H158;Q9H158-2	PCDC1_HUMAN;.	D	617	ENSP00000386356:E617D;ENSP00000253807:E617D	ENSP00000253807:E617D	E	+	3	2	PCDHAC1	140288512	1.000000	0.71417	0.994000	0.49952	0.199000	0.23934	1.002000	0.29796	0.139000	0.18822	-1.119000	0.02030	GAG		TCGA-IB-7651-01A-11D-2154-08	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	1	0	1	86	384	0	75	0	8.656928e-01	0	18	0	75	2		0	0	0	0	0	2	1	1	86	376	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB1	29930	broad.mit.edu	37	5	140431091	140431091	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431091G>A	ENST00000306549.3	+	1	113	c.36G>A	c.(34-36)agG>agA	p.R12R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1			53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TGCAAAACAGGCAAGTGGGAT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000306549.3	0	1	hg19	CCDS4243.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	0	0	0	6	288	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	9.623152e-01	5	281	0	55	2								-6.652520	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.260000	0.100000	1.000000	0.230000	0.328563	0.260000	0	1.700000e-01	4.200000e-01
PCDHB1	29930	broad.mit.edu	37	5	140431560	140431560	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431560A>C	ENST00000306549.3	+	1	582	c.505A>C	c.(505-507)Aac>Cac	p.N169H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1			53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CGGTCTCCAGAACTACACCCT	0.567000																								0							SO:0001583	missense			ENST00000306549.3	0	1	hg19	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271842	0.40194	.	.	ENSG00000171815	ENST00000306549	T	0.51325	0.71	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000086	T	0.46405	0.1391	M	0.61703	1.905	0.27636	N	0.947887	B	0.28128	0.201	B	0.27608	0.081	T	0.51608	-0.8684	10	0.66056	D	0.02	.	11.6893	0.51505	0.868:0.0:0.0:0.132	.	169	Q9Y5F3	PCDB1_HUMAN	H	169	ENSP00000307234:N169H	ENSP00000307234:N169H	N	+	1	0	PCDHB1	140411744	0.003000	0.15002	0.983000	0.44433	0.711000	0.40976	2.181000	0.42547	2.333000	0.79357	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	0	0	0	6	313	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	9.646738e-01	6	311	0	81	2								-7.085948	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.240000	0.090000	1.000000	0.230000	0.308935	0.240000	0	1.600000e-01	3.900000e-01
PCDHB1	29930	broad.mit.edu	37	5	140432001	140432001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140432001G>A	ENST00000306549.3	+	1	1023	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1			53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TGAAACATACGACATTGACAT	0.463000																								0							SO:0001583	missense			ENST00000306549.3	1	1	hg19	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957179	0.53293	.	.	ENSG00000171815	ENST00000306549	T	0.01725	4.67	6.17	5.3	0.74995	Cadherin (5);Cadherin-like (1);	0.000000	0.49916	D	0.000133	T	0.01222	0.0040	N	0.01522	-0.82	0.36095	D	0.843752	D	0.53151	0.958	P	0.46275	0.51	T	0.74569	-0.3622	10	0.33940	T	0.23	.	13.4394	0.61104	0.1218:0.0:0.8782:0.0	.	316	Q9Y5F3	PCDB1_HUMAN	N	316	ENSP00000307234:D316N	ENSP00000307234:D316N	D	+	1	0	PCDHB1	140412185	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	3.633000	0.54295	2.941000	0.99782	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	1	0	1	81	409	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	81	402	0	107	2								-20.000000	1	1	121412	5	40	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB2	56133	broad.mit.edu	37	5	140475112	140475112	+	Silent	SNP	G	G	A	rs149000816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475112G>A	ENST00000194155.4	+	1	886	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		AGTTTGCAAAGCTGCTCTATG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000194155.4	1	1	hg19	CCDS4244.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	1	0	1	47	252	0	58	0	2.467325e-01	0	6	0	58	2		0	0	0	0	0	2	1	1	46	248	0	57	2								-4.802844	1	1	121412	22	45	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PCDHB2	56133	broad.mit.edu	37	5	140475722	140475722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475722G>A	ENST00000194155.4	+	1	1496	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2			71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CAATGACAACGCCCCCGCCTT	0.597000																								0							SO:0001583	missense			ENST00000194155.4	0	1	hg19	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681742	0.14907	.	.	ENSG00000112852	ENST00000194155	T	0.03181	4.02	5.11	0.557	0.17260	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.05364	0.0142	M	0.85099	2.735	0.32974	D	0.522764	D	0.55605	0.972	B	0.34652	0.187	T	0.34875	-0.9811	9	0.56958	D	0.05	.	6.9348	0.24461	0.0811:0.5668:0.241:0.1111	.	450	Q9Y5E7	PCDB2_HUMAN	T	450	ENSP00000194155:A450T	ENSP00000194155:A450T	A	+	1	0	PCDHB2	140455906	0.000000	0.05858	0.973000	0.42090	0.005000	0.04900	-0.599000	0.05700	0.236000	0.21180	-1.066000	0.02275	GCC		TCGA-IB-7651-01A-11D-2154-08	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	0	0	0	78	1146	0	288	1	1.109318e-01	2	7	0	288	2		0	0	0	0	0	2	1	1	67	998	0	365	2								-3.318794	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.760000	0.600000	1.000000	0.750000	0.778246	0.760000	0	6.700000e-01	8.700000e-01
PCDHB3	56132	broad.mit.edu	37	5	140480291	140480291	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480291T>G	ENST00000231130.2	+	1	58	c.58T>G	c.(58-60)Ttt>Gtt	p.F20V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3			72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TCTCTTTGTTTTTCTGGGAGG	0.507000																								0							SO:0001583	missense			ENST00000231130.2	1	1	hg19	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979876	0.34942	.	.	ENSG00000113205	ENST00000231130	T	0.47869	0.83	4.77	0.509	0.16977	.	.	.	.	.	T	0.32496	0.0831	L	0.37630	1.12	0.19300	N	0.999973	B	0.18461	0.028	B	0.12156	0.007	T	0.28299	-1.0048	9	0.56958	D	0.05	.	3.4948	0.07650	0.2739:0.2045:0.0:0.5217	.	20	Q9Y5E6	PCDB3_HUMAN	V	20	ENSP00000231130:F20V	ENSP00000231130:F20V	F	+	1	0	PCDHB3	140460475	0.000000	0.05858	0.897000	0.35233	0.981000	0.71138	0.186000	0.16978	0.243000	0.21327	-0.274000	0.10170	TTT		TCGA-IB-7651-01A-11D-2154-08	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	1	0	1	75	281	0	45	0	7.536345e-01	1	11	0	45	2		0	0	0	0	0	2	1	1	74	270	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB3	56132	broad.mit.edu	37	5	140480933	140480933	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480933G>A	ENST00000231130.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3			72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CCAGGTCTTAGATATAAACGA	0.547000																								0							SO:0001583	missense			ENST00000231130.2	1	1	hg19	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308185	0.81247	.	.	ENSG00000113205	ENST00000231130	T	0.74209	-0.82	4.93	4.93	0.64822	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90242	0.6949	H	0.94264	3.515	0.50313	D	0.999865	D	0.89917	1.0	D	0.97110	1.0	D	0.93048	0.6463	9	0.87932	D	0	.	18.1419	0.89642	0.0:0.0:1.0:0.0	.	234	Q9Y5E6	PCDB3_HUMAN	N	234	ENSP00000231130:D234N	ENSP00000231130:D234N	D	+	1	0	PCDHB3	140461117	1.000000	0.71417	0.800000	0.32199	0.536000	0.34869	9.788000	0.99064	2.438000	0.82558	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	1	0	1	81	303	0	58	0	1.169557e-01	0	3	0	58	2		0	0	0	0	0	2	1	1	81	295	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB3	56132	broad.mit.edu	37	5	140482389	140482389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140482389C>T	ENST00000231130.2	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3			72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		AGGAGCAGGGCGGCCTCGGTG	0.667000																								0							SO:0001583	missense			ENST00000231130.2	0	1	hg19	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771873	0.69992	.	.	ENSG00000113205	ENST00000231130	T	0.17528	2.27	4.16	1.83	0.25207	.	.	.	.	.	T	0.31606	0.0802	M	0.87038	2.855	0.23346	N	0.997868	D	0.55800	0.973	P	0.49477	0.612	T	0.15607	-1.0431	9	0.72032	D	0.01	.	8.4355	0.32784	0.2265:0.6309:0.1425:0.0	.	719	Q9Y5E6	PCDB3_HUMAN	V	719	ENSP00000231130:A719V	ENSP00000231130:A719V	A	+	2	0	PCDHB3	140462573	0.614000	0.27017	0.089000	0.20774	0.145000	0.21501	1.032000	0.30178	0.826000	0.34661	0.485000	0.47835	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	1	0	0	190	924	1	174	0	0	0	1	1	174	2		0	0	0	0	0	2	1	1	127	538	1	246	11								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB4	56131	broad.mit.edu	37	5	140503186	140503186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503186G>A	ENST00000194152.1	+	1	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4			67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CTCAGACCGCGGTTCTCCGGC	0.662000																								0							SO:0001583	missense			ENST00000194152.1	1	1	hg19	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372354	0.82573	.	.	ENSG00000081818	ENST00000194152	T	0.01647	4.71	3.88	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16727	0.0402	H	0.95816	3.725	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	9	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	536	Q9Y5E5	PCDB4_HUMAN	S	536	ENSP00000194152:G536S	ENSP00000194152:G536S	G	+	1	0	PCDHB4	140483370	1.000000	0.71417	0.171000	0.22900	0.664000	0.39144	9.415000	0.97375	2.189000	0.69895	0.485000	0.47835	GGT		TCGA-IB-7651-01A-11D-2154-08	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	1	0	0	127	561	0	125	0	6.794362e-01	0	12	0	125	2		0	0	0	0	0	2	1	1	122	553	0	124	2								-3.220162	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB4	56131	broad.mit.edu	37	5	140503392	140503392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503392G>T	ENST00000194152.1	+	1	1812	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4			67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TGTCGTACCAGCTGCTCAAGG	0.716000																								0							SO:0001583	missense			ENST00000194152.1	0	1	hg19	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206300	0.39003	.	.	ENSG00000081818	ENST00000194152	T	0.52983	0.64	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40791	0.1131	N	0.05534	-0.03	0.32754	N	0.506063	D	0.57257	0.979	D	0.67382	0.951	T	0.50915	-0.8771	9	0.54805	T	0.06	.	3.1232	0.06398	0.098:0.1751:0.5458:0.1811	.	604	Q9Y5E5	PCDB4_HUMAN	H	604	ENSP00000194152:Q604H	ENSP00000194152:Q604H	Q	+	3	2	PCDHB4	140483576	0.009000	0.17119	1.000000	0.80357	0.994000	0.84299	-0.256000	0.08757	2.235000	0.73313	0.485000	0.47835	CAG		TCGA-IB-7651-01A-11D-2154-08	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	0	0	0	105	582	1	117		0	0	0	1	117	2		0	0	0	0	0	2	1	1	40	253	1	141	9								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB4	56131	broad.mit.edu	37	5	140503686	140503686	+	Missense_Mutation	SNP	C	C	A	rs145434045	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503686C>A	ENST00000194152.1	+	1	2106	c.2106C>A	c.(2104-2106)ttC>ttA	p.F702L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4			67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TCTTCCTCTTCTCGGTGCTCC	0.706000																								0							SO:0001583	missense			ENST00000194152.1	1	0	hg19	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	6.535	0.466958	0.12402	.	.	ENSG00000081818	ENST00000194152	T	0.07444	3.19	4.53	-2.89	0.05665	.	.	.	.	.	T	0.02807	0.0084	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45116	-0.9283	9	0.02654	T	1	.	7.5874	0.28002	0.0968:0.208:0.5636:0.1315	.	702	Q9Y5E5	PCDB4_HUMAN	L	702	ENSP00000194152:F702L	ENSP00000194152:F702L	F	+	3	2	PCDHB4	140483870	0.000000	0.05858	0.000000	0.03702	0.752000	0.42762	-7.911000	0.00028	-0.736000	0.04831	-1.724000	0.00704	TTC		TCGA-IB-7651-01A-11D-2154-08	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	1	0	0	256	1135	0	251	0	3.066489e-01	0	6	0	251	2		0	0	0	0	0	2	1	1	190	992	0	256	2								-3.996406	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB5	26167	broad.mit.edu	37	5	140515588	140515588	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140515588A>G	ENST00000231134.5	+	1	789	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5			81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GGCAGAAAATACCCAGAGCTG	0.552000																								0							SO:0001583	missense			ENST00000231134.5	1	1	hg19	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813791	0.50527	.	.	ENSG00000113209	ENST00000231134	T	0.20598	2.06	5.18	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55433	0.1920	H	0.95114	3.625	0.25307	N	0.989237	D	0.71674	0.998	D	0.72075	0.976	T	0.53208	-0.8471	9	0.87932	D	0	.	9.4626	0.38794	0.7278:0.0:0.0:0.2722	.	191	Q9Y5E4	PCDB5_HUMAN	C	191	ENSP00000231134:Y191C	ENSP00000231134:Y191C	Y	+	2	0	PCDHB5	140495772	0.000000	0.05858	1.000000	0.80357	0.927000	0.56198	-0.136000	0.10405	2.086000	0.62901	0.454000	0.30748	TAC		TCGA-IB-7651-01A-11D-2154-08	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	1	0	1	98	457	0	91	0	3.611536e-01	0	7	0	91	2		0	0	0	0	0	2	1	1	95	453	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB5	26167	broad.mit.edu	37	5	140516480	140516480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516480G>A	ENST00000231134.5	+	1	1681	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5			81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TCACCTACTCGCTGCTGCCGC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000231134.5	1	1	hg19	CCDS4247.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	1	0	1	214	893	0	231	0	8.672114e-01	0	17	0	231	2		0	0	0	0	0	2	1	1	194	830	0	247	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB5	26167	broad.mit.edu	37	5	140516822	140516822	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516822G>A	ENST00000231134.5	+	1	2023	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	p.S602S(1)		81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CCTGGCTGTCGTACCAGCTGC	0.721000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000231134.5	1	1	hg19	CCDS4247.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	0	0	0	26	699	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	8.859865e-01	22	632	1	138	17								-3.216221	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.430000	0.280000	1.000000	0.420000	0.478348	0.430000	0	3.500000e-01	5.500000e-01
PCDHB5	26167	broad.mit.edu	37	5	140517107	140517107	+	Silent	SNP	G	G	A	rs61745780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517107G>A	ENST00000231134.5	+	1	2308	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5			81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CCTCGGTGTCGTCGCTCTTCC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000231134.5	1	1	hg19	CCDS4247.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	0	0	0	47	1230	0	211		0	0	0	0	211	2		0	0	0	0	0	2	1	1	46	1202	0	212	2								-3.731835	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.440000	0.320000	1.000000	0.440000	0.483759	0.440000	0	3.700000e-01	5.300000e-01
PCDHB5	26167	broad.mit.edu	37	5	140517233	140517233	+	Silent	SNP	C	C	T	rs150150212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517233C>T	ENST00000231134.5	+	1	2434	c.2217C>T	c.(2215-2217)agC>agT	p.S739S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5			81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TGGACGTGAGCGGCACCGGGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000231134.5	1	1	hg19	CCDS4247.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	1	0	1	204	1107	0	233	0	1.177068e-01	1	3	0	233	2		0	0	0	0	0	2	1	1	196	1091	0	230	2								-20.000000	1	1	121410	2	40	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB6	56130	broad.mit.edu	37	5	140531016	140531016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531016C>A	ENST00000231136.1	+	1	1178	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6			84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CTACTAAGACCTTCCGTGGAG	0.468000																								0							SO:0001583	missense			ENST00000231136.1	1	1	hg19	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	8.842	0.942553	0.18281	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01725	4.67;4.67	4.59	2.65	0.31530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12774	0.0310	H	0.95004	3.61	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05666	-1.0871	9	0.87932	D	0	.	6.5296	0.22320	0.1459:0.6952:0.0:0.159	.	393	Q9Y5E3	PCDB6_HUMAN	H	257;393;178	ENSP00000438466:P257H;ENSP00000231136:P393H	ENSP00000231136:P393H	P	+	2	0	PCDHB6	140511200	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.152000	0.16302	1.053000	0.40415	-0.219000	0.12488	CCT		TCGA-IB-7651-01A-11D-2154-08	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	1	0	1	151	674	0	156	0	8.926925e-02	0	3	0	156	2		0	0	0	0	0	2	1	1	151	665	0	156	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB6	56130	broad.mit.edu	37	5	140531873	140531873	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531873G>T	ENST00000231136.1	+	1	2035	c.2035G>T	c.(2035-2037)Gcc>Tcc	p.A679S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6			84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CCCGGCCCAAGCCCAGGCCGA	0.697000																								0							SO:0001583	missense			ENST00000231136.1	1	1	hg19	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837250	0.16891	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.52754	0.65;0.69	4.55	1.51	0.23008	.	.	.	.	.	T	0.37999	0.1024	L	0.60067	1.865	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.42832	-0.9428	9	0.66056	D	0.02	.	1.634	0.02738	0.2053:0.1642:0.4627:0.1677	.	679	Q9Y5E3	PCDB6_HUMAN	S	543;679	ENSP00000438466:A543S;ENSP00000231136:A679S	ENSP00000231136:A679S	A	+	1	0	PCDHB6	140512057	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	0.139000	0.16036	0.397000	0.25310	0.556000	0.70494	GCC		TCGA-IB-7651-01A-11D-2154-08	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	1	0	1	190	860	0	182	0	3.310476e-02	0	2	0	182	2		0	0	0	0	0	2	1	1	184	837	0	178	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB7	56129	broad.mit.edu	37	5	140553378	140553378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553378C>T	ENST00000231137.3	+	1	1136	c.962C>T	c.(961-963)gCc>gTc	p.A321V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7			119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		ACTATTCAGGCCAAAGACGGC	0.423000																								0							SO:0001583	missense			ENST00000231137.3	1	1	hg19	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165954	0.57476	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.73363	-0.74	4.61	3.66	0.41972	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.84306	0.5443	M	0.73217	2.22	0.43214	D	0.995083	D	0.89917	1.0	D	0.83275	0.996	D	0.86381	0.1729	9	0.87932	D	0	.	14.0288	0.64601	0.0:0.8476:0.1524:0.0	.	321	Q9Y5E2	PCDB7_HUMAN	V	321;104	ENSP00000231137:A321V	ENSP00000231137:A321V	A	+	2	0	PCDHB7	140533562	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	4.882000	0.63121	2.244000	0.73946	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	1	73	309	0	75	0	6.981055e-01	1	11	0	75	2		0	0	0	0	0	2	1	1	73	304	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB7	56129	broad.mit.edu	37	5	140553895	140553895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553895C>T	ENST00000231137.3	+	1	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7			119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TGCTGCCGTCCCAGGACCCGC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000231137.3	1	1	hg19	CCDS4249.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	1	144	715	0	182	0	6.230969e-01	1	11	0	182	2		0	0	0	0	0	2	1	1	136	691	0	181	2								-3.322506	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB7	56129	broad.mit.edu	37	5	140554076	140554076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554076G>A	ENST00000231137.3	+	1	1834	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7			119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GGTGCTGGACGCCAACGACAA	0.726000																								0							SO:0001583	missense			ENST00000231137.3	1	1	hg19	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	11.96	1.793689	0.31685	.	.	ENSG00000113212	ENST00000231137	T	0.03181	4.02	4.3	3.38	0.38709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	N	0.12527	0.23	0.23661	N	0.997171	B	0.25850	0.136	B	0.21546	0.035	T	0.45220	-0.9276	9	0.40728	T	0.16	.	12.4687	0.55775	0.0:0.3241:0.6759:0.0	.	554	Q9Y5E2	PCDB7_HUMAN	T	554	ENSP00000231137:A554T	ENSP00000231137:A554T	A	+	1	0	PCDHB7	140534260	0.000000	0.05858	0.769000	0.31535	0.934000	0.57294	0.692000	0.25482	0.853000	0.35312	0.449000	0.29647	GCC		TCGA-IB-7651-01A-11D-2154-08	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	0	108	490	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	90	414	0	100	2								-20.000000	1	0	120346	1	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB7	56129	broad.mit.edu	37	5	140554408	140554408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554408C>T	ENST00000231137.3	+	1	2166	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7			119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TCCTGGTGGACGGCTTCTCCC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000231137.3	1	1	hg19	CCDS4249.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	0	0	97	1068	0	217	0	0	0	1	0	217	2		0	0	0	0	0	2	1	1	90	995	1	217	18								-19.987380	1	1	121146	2	38	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.800000	1.000000	1.000000	0.960315	0.990000	1	8.900000e-01	1
PCDHB7	56129	broad.mit.edu	37	5	140554707	140554707	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554707T>A	ENST00000231137.3	+	1	2465	c.2291T>A	c.(2290-2292)tTt>tAt	p.F764Y	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7			119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GAGTTCAAGTTTCTGAAACCA	0.507000																								0							SO:0001583	missense			ENST00000231137.3	1	1	hg19	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314917	0.40996	.	.	ENSG00000113212	ENST00000231137	T	0.19105	2.17	4.33	3.14	0.36123	.	.	.	.	.	T	0.44498	0.1296	M	0.87900	2.915	0.35724	D	0.817379	D	0.63046	0.992	P	0.60415	0.874	T	0.61491	-0.7052	9	0.72032	D	0.01	.	10.0259	0.42070	0.0:0.0873:0.0:0.9127	.	764	Q9Y5E2	PCDB7_HUMAN	Y	764	ENSP00000231137:F764Y	ENSP00000231137:F764Y	F	+	2	0	PCDHB7	140534891	1.000000	0.71417	0.995000	0.50966	0.170000	0.22686	5.748000	0.68697	1.711000	0.51337	0.374000	0.22700	TTT		TCGA-IB-7651-01A-11D-2154-08	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	0	92	907	0	158	1	4.756320e-01	3	14	0	158	2	0	0	0	1	0	1	2	1	1	91	896	0	155	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.890000	1.000000	1.000000	0.990403	0.990000	1	9.800000e-01	1
PCDHB8	56128	broad.mit.edu	37	5	140558420	140558420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558420G>A	ENST00000239444.2	+	1	1050	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8			83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CTCTGCCACGGATGTAGACAC	0.433000																								0							SO:0001583	missense			ENST00000239444.2	1	1	hg19	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416301	0.42918	.	.	ENSG00000120322	ENST00000239444	T	0.74526	-0.85	4.25	4.25	0.50352	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.91566	0.7336	H	0.98351	4.21	0.36061	D	0.841464	D	0.89917	1.0	D	0.97110	1.0	D	0.97214	0.9873	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	269	Q9UN66	PCDB8_HUMAN	N	269	ENSP00000239444:D269N	ENSP00000239444:D269N	D	+	1	0	PCDHB8	140538604	1.000000	0.71417	0.065000	0.19835	0.105000	0.19272	9.768000	0.98965	1.911000	0.55334	0.585000	0.79938	GAT		TCGA-IB-7651-01A-11D-2154-08	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	0	0	0	167	1601	0	354	0	0	0	1	0	354	2		0	0	0	0	0	2	1	1	164	1570	0	364	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.960000	1.000000	1.000000	0.997966	0.990000	1	9.900000e-01	1
PCDHB8	56128	broad.mit.edu	37	5	140558931	140558931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558931C>T	ENST00000239444.2	+	1	1561	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8			83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CTCAATATGACCGTGCTGGTG	0.567000																								0							SO:0001583	missense			ENST00000239444.2	1	1	hg19	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	3.226	-0.158381	0.06544	.	.	ENSG00000120322	ENST00000239444	T	0.03358	3.96	4.26	3.39	0.38822	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06781	0.0173	M	0.64630	1.985	0.09310	N	1	B	0.24618	0.107	B	0.36922	0.236	T	0.36359	-0.9751	9	0.56958	D	0.05	.	4.0224	0.09672	0.1624:0.5888:0.158:0.0907	.	439	Q9UN66	PCDB8_HUMAN	I	439	ENSP00000239444:T439I	ENSP00000239444:T439I	T	+	2	0	PCDHB8	140539115	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-1.353000	0.02617	0.778000	0.33520	0.305000	0.20034	ACC		TCGA-IB-7651-01A-11D-2154-08	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	0	0	0	171	1750	1	408	0	9.413214e-02	0	6	1	408	2		0	0	0	0	0	2	1	1	166	1712	1	405	17								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.900000	1.000000	1.000000	0.990902	0.990000	1	9.700000e-01	1
PCDHB8	56128	broad.mit.edu	37	5	140559326	140559326	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559326G>A	ENST00000239444.2	+	1	1956	c.1711G>A	c.(1711-1713)Gcg>Acg	p.A571T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8			83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GAATGGCTCCGCGCCCTGCAC	0.716000																								0							SO:0001583	missense			ENST00000239444.2	0	1	hg19	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558443	0.27827	.	.	ENSG00000120322	ENST00000239444	T	0.60797	0.16	4.22	2.2	0.27929	Cadherin-like (1);	.	.	.	.	T	0.42607	0.1210	N	0.21324	0.655	0.09310	N	1	B	0.30211	0.273	B	0.31751	0.135	T	0.38824	-0.9643	9	0.66056	D	0.02	.	8.146	0.31113	0.0:0.1345:0.4702:0.3953	.	571	Q9UN66	PCDB8_HUMAN	T	571	ENSP00000239444:A571T	ENSP00000239444:A571T	A	+	1	0	PCDHB8	140539510	0.000000	0.05858	0.557000	0.28306	0.601000	0.36947	-0.187000	0.09656	0.735000	0.32537	0.298000	0.19748	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	0	0	0	77	635	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1	35	327	0	237	2								-1.329789	0	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999488	0.990000	1	9.900000e-01	1
PCDHB8	56128	broad.mit.edu	37	5	140559622	140559622	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559622G>T	ENST00000239444.2	+	1	2252	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8			83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GCTTCTCCCAGCCCTACCTGC	0.682000																								0							SO:0001583	missense			ENST00000239444.2	1	1	hg19	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144642	0.21288	.	.	ENSG00000120322	ENST00000239444	T	0.48836	0.8	4.22	2.2	0.27929	Cadherin (2);	.	.	.	.	T	0.44953	0.1318	M	0.67700	2.07	0.26343	N	0.977333	P	0.40731	0.728	B	0.41764	0.366	T	0.47471	-0.9115	9	0.87932	D	0	.	4.5376	0.12042	0.0925:0.2229:0.5509:0.1337	.	669	Q9UN66	PCDB8_HUMAN	H	669	ENSP00000239444:Q669H	ENSP00000239444:Q669H	Q	+	3	2	PCDHB8	140539806	0.000000	0.05858	1.000000	0.80357	0.347000	0.29111	-0.034000	0.12225	1.915000	0.55452	0.298000	0.19748	CAG		TCGA-IB-7651-01A-11D-2154-08	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	1	0	1	127	527	0	127	0	1.733799e-01	1	3	0	127	2		0	0	0	0	0	2	1	1	125	504	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB10	56126	broad.mit.edu	37	5	140573455	140573455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573455G>A	ENST00000239446.4	+	1	1514	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10			76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GGTCTCCGACGTCAATGACAA	0.587000																								0							SO:0001583	missense			ENST00000239446.4	1	1	hg19	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	5.683	0.310575	0.10733	.	.	ENSG00000120324	ENST00000239446	T	0.01258	5.09	3.22	0.279	0.15677	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00967	0.0032	N	0.20445	0.575	0.23468	N	0.997613	B	0.21905	0.062	B	0.18263	0.021	T	0.46470	-0.9189	9	0.06099	T	0.92	.	8.2294	0.31589	0.3138:0.0:0.6862:0.0	.	444	Q9UN67	PCDBA_HUMAN	I	444	ENSP00000239446:V444I	ENSP00000239446:V444I	V	+	1	0	PCDHB10	140553639	0.090000	0.21635	0.999000	0.59377	0.858000	0.48976	0.358000	0.20216	0.194000	0.20326	-0.274000	0.10170	GTC		TCGA-IB-7651-01A-11D-2154-08	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	0	0	0	141	501	0	150	0	5.540509e-01	1	7	0	150	2		0	0	0	0	0	2	1	1	115	300	0	215	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB10	56126	broad.mit.edu	37	5	140573467	140573467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573467G>A	ENST00000239446.4	+	1	1526	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10			76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CAATGACAACGCCCCCGCCTT	0.597000																								0							SO:0001583	missense			ENST00000239446.4	0	1	hg19	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	12.55	1.971885	0.34754	.	.	ENSG00000120324	ENST00000239446	T	0.03181	4.02	3.22	2.23	0.28157	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.06962	0.0177	M	0.84433	2.695	0.35283	D	0.781521	B	0.27823	0.19	B	0.21917	0.037	T	0.03453	-1.1035	9	0.56958	D	0.05	.	7.6598	0.28396	0.0:0.2886:0.5556:0.1558	.	448	Q9UN67	PCDBA_HUMAN	T	448	ENSP00000239446:A448T	ENSP00000239446:A448T	A	+	1	0	PCDHB10	140553651	0.000000	0.05858	1.000000	0.80357	0.809000	0.45718	-0.562000	0.05950	1.819000	0.53055	0.549000	0.68633	GCC		TCGA-IB-7651-01A-11D-2154-08	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	0	0	0	107	608	0	167	1	3.427055e-01	2	6	0	167	2		0	0	0	0	0	2	1	1	45	390	0	245	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB10	56126	broad.mit.edu	37	5	140574052	140574052	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140574052C>A	ENST00000239446.4	+	1	2111	c.1927C>A	c.(1927-1929)Ctt>Att	p.L643I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10			76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GCTCGTGGTGCTTGTCAAGGA	0.692000																								0							SO:0001583	missense			ENST00000239446.4	1	1	hg19	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	9.641	1.139023	0.21205	.	.	ENSG00000120324	ENST00000239446	T	0.59638	0.25	3.03	2.14	0.27477	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52948	0.1766	L	0.50847	1.595	0.09310	N	1	P	0.39480	0.675	P	0.46585	0.521	T	0.51639	-0.8680	9	0.62326	D	0.03	.	1.7846	0.03039	0.1832:0.4151:0.2742:0.1275	.	643	Q9UN67	PCDBA_HUMAN	I	643	ENSP00000239446:L643I	ENSP00000239446:L643I	L	+	1	0	PCDHB10	140554236	0.000000	0.05858	0.997000	0.53966	0.145000	0.21501	-1.908000	0.01587	1.704000	0.51252	0.298000	0.19748	CTT		TCGA-IB-7651-01A-11D-2154-08	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	0	0	0	96	165	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	94	157	1	58	15								-20.000000	1	0	116748	1	28	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB12	56124	broad.mit.edu	37	5	140590474	140590474	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590474C>A	ENST00000239450.2	+	1	2184	c.1995C>A	c.(1993-1995)ggC>ggA	p.G665G	PCDHB12_ENST00000541609.1_Silent_p.G328G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12			83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TGGTGGACGGCTTCTCCCAGC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000239450.2	1	1	hg19	CCDS4254.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	0	0	0	135	586	0	86		0	0	0	0	86	2	1	9.233727e-01	3	18	0	13	2	1	1	124	536	0	141	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB12	56124	broad.mit.edu	37	5	140590692	140590692	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590692A>G	ENST00000239450.2	+	1	2402	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12			83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CATCTGGTGGACGTGAGTGGC	0.602000																								0							SO:0001583	missense			ENST00000239450.2	1	1	hg19	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047246	0.36085	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.53640	0.61;0.77	3.4	2.21	0.28008	.	.	.	.	.	T	0.43144	0.1234	M	0.70595	2.14	0.25453	N	0.987989	B	0.27679	0.185	B	0.32342	0.144	T	0.36744	-0.9735	9	0.17369	T	0.5	.	5.5502	0.17086	0.7279:0.1719:0.1002:0.0	.	738	Q9Y5F1	PCDBC_HUMAN	G	401;738;358	ENSP00000440199:D401G;ENSP00000239450:D738G	ENSP00000239450:D738G	D	+	2	0	PCDHB12	140570876	0.997000	0.39634	0.218000	0.23776	0.116000	0.19942	3.553000	0.53713	0.344000	0.23847	0.392000	0.25879	GAC		TCGA-IB-7651-01A-11D-2154-08	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	1	0	1	146	762	0	145	1	4.389245e-01	2	7	0	145	2	1	1	117	395	0	410	2	1	1	144	754	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHG4B	153478	broad.mit.edu	37	5	140602	140602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140602G>T	ENST00000283426.6	+	1	230	c.180G>T	c.(178-180)aaG>aaT	p.K60N	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B			11			all cancers(22;0.0253)|Lung(60;0.113)		GTCTAGAGAAGGAGAGGCACA	0.662000																								0							SO:0001583	missense			ENST00000283426.6	0	1	hg19	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	9.374	1.071343	0.20147	.	.	ENSG00000153404	ENST00000283426	T	0.25250	1.81	2.04	2.04	0.26737	.	.	.	.	.	T	0.09423	0.0232	N	0.19112	0.55	0.09310	N	1	P	0.41232	0.743	B	0.26094	0.066	T	0.13602	-1.0503	9	0.05525	T	0.97	.	7.3479	0.26674	0.0:0.0:1.0:0.0	.	60	Q96PX9	PKH4B_HUMAN	N	60	ENSP00000283426:K60N	ENSP00000283426:K60N	K	+	3	2	PLEKHG4B	193602	0.040000	0.19996	0.069000	0.20011	0.158000	0.22134	-0.328000	0.07945	0.613000	0.30089	0.298000	0.19748	AAG		TCGA-IB-7651-01A-11D-2154-08	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	0	0	0	5	54	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.346736e-01	5	52	0	13	2								-10.269880	1	1	0	0		1						0.170000	2.060000									0	0
PCDHB14	56122	broad.mit.edu	37	5	140603244	140603244	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603244T>C	ENST00000239449.4	+	1	167	c.167T>C	c.(166-168)gTg>gCg	p.V56A	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14			49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GGGCTGGGGGTGGAGGAGCTG	0.473000													Ovarian(141;50 1831 27899 33809 37648)											0							SO:0001583	missense			ENST00000239449.4	1	1	hg19	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.03	1.237733	0.22711	.	.	ENSG00000120327	ENST00000239449	T	0.29655	1.56	4.93	4.93	0.64822	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.29491	0.0735	M	0.64170	1.965	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.07809	-1.0753	9	0.20046	T	0.44	.	10.1776	0.42948	0.0:0.0814:0.0:0.9186	.	56	Q9Y5E9	PCDBE_HUMAN	A	56	ENSP00000239449:V56A	ENSP00000239449:V56A	V	+	2	0	PCDHB14	140583428	0.042000	0.20092	0.216000	0.23742	0.715000	0.41141	1.765000	0.38481	1.974000	0.57490	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	0	0	1	74	286	0	70	1	8.843607e-01	3	14	0	70	2		0	0	0	0	0	2	1	1	69	278	0	69	2								-2.913646	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB14	56122	broad.mit.edu	37	5	140603489	140603489	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603489A>C	ENST00000239449.4	+	1	412	c.412A>C	c.(412-414)Ata>Cta	p.I138L	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14			49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		AGACAAGGAAATACTTATTAA	0.393000													Ovarian(141;50 1831 27899 33809 37648)											0							SO:0001583	missense			ENST00000239449.4	1	1	hg19	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.54	2.863918	0.51482	.	.	ENSG00000120327	ENST00000239449	T	0.19532	2.14	4.92	3.73	0.42828	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.15089	0.0364	L	0.51422	1.61	0.48830	D	0.999719	B	0.13145	0.007	B	0.12837	0.008	T	0.10451	-1.0629	9	0.15952	T	0.53	.	3.0982	0.06317	0.6325:0.1471:0.0792:0.1412	.	138	Q9Y5E9	PCDBE_HUMAN	L	138	ENSP00000239449:I138L	ENSP00000239449:I138L	I	+	1	0	PCDHB14	140583673	0.000000	0.05858	0.977000	0.42913	0.996000	0.88848	-0.073000	0.11468	0.797000	0.33971	0.528000	0.53228	ATA		TCGA-IB-7651-01A-11D-2154-08	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	1	135	524	0	101	1	9.855869e-01	5	23	0	101	2		0	0	0	0	0	2	1	1	131	514	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB14	56122	broad.mit.edu	37	5	140604406	140604406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604406C>T	ENST00000239449.4	+	1	1329	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	PCDHB14_ENST00000515856.2_Silent_p.D290D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14			49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TGCTCTCTGACGTCAATGACA	0.582000													Ovarian(141;50 1831 27899 33809 37648)											0							SO:0001819	synonymous_variant			ENST00000239449.4	1	1	hg19	CCDS4256.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	1	261	959	0	257	1	9.929346e-01	5	25	0	257	2		0	0	0	0	0	2	1	1	250	940	0	261	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB14	56122	broad.mit.edu	37	5	140604652	140604652	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604652G>T	ENST00000239449.4	+	1	1575	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14			49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		AGGCCCTACAGGAGTTCGAGT	0.682000													Ovarian(141;50 1831 27899 33809 37648)											0							SO:0001583	missense			ENST00000239449.4	1	1	hg19	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	13.43	2.234204	0.39498	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	-5.01	0.02991	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.07458	0.0188	M	0.81802	2.56	0.09310	N	1	D	0.69078	0.997	D	0.66979	0.948	T	0.00356	-1.1793	9	0.66056	D	0.02	.	9.7535	0.40490	0.1936:0.4883:0.3181:0.0	.	525	Q9Y5E9	PCDBE_HUMAN	H	372;525	ENSP00000444518:Q372H;ENSP00000239449:Q525H	ENSP00000239449:Q525H	Q	+	3	2	PCDHB14	140584836	0.000000	0.05858	0.002000	0.10522	0.757000	0.42996	-2.831000	0.00743	-1.095000	0.03050	0.556000	0.70494	CAG		TCGA-IB-7651-01A-11D-2154-08	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	0	82	738	0	168	1	5.824833e-01	2	17	0	168	2		0	0	0	0	0	2	1	1	81	728	0	168	2								-3.017764	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.950000	1.000000	1.000000	0.997555	0.990000	1	9.900000e-01	1
PCDHB14	56122	broad.mit.edu	37	5	140604719	140604719	+	Missense_Mutation	SNP	C	C	T	rs150404611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604719C>T	ENST00000239449.4	+	1	1642	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14			49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GGCGCTGGTGCGCGTGCTGGT	0.706000													Ovarian(141;50 1831 27899 33809 37648)											0							SO:0001583	missense			ENST00000239449.4	1	1	hg19	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	18.25	3.581771	0.65992	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01767	4.65;4.65	4.15	4.15	0.48705	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.09862	0.0242	M	0.81802	2.56	0.40766	D	0.983045	D	0.89917	1.0	D	0.85130	0.997	T	0.00565	-1.1668	9	0.87932	D	0	.	11.7144	0.51643	0.1769:0.8231:0.0:0.0	.	548	Q9Y5E9	PCDBE_HUMAN	C	395;548	ENSP00000444518:R395C;ENSP00000239449:R548C	ENSP00000239449:R548C	R	+	1	0	PCDHB14	140584903	0.005000	0.15991	1.000000	0.80357	0.992000	0.81027	0.383000	0.20651	2.048000	0.60808	0.556000	0.70494	CGC		TCGA-IB-7651-01A-11D-2154-08	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	0	51	449	0	88	0	1.091459e-02	0	2	0	88	2		0	0	0	0	0	2	1	1	46	431	0	117	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.920000	1.000000	1.000000	0.995304	0.990000	1	9.900000e-01	1
PCDHB14	56122	broad.mit.edu	37	5	140605012	140605012	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140605012G>T	ENST00000239449.4	+	1	1935	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14			49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TGCTGGTCAAGGACAATGGCG	0.721000													Ovarian(141;50 1831 27899 33809 37648)											0							SO:0001583	missense			ENST00000239449.4	1	1	hg19	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	10.38	1.335100	0.24253	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53640	0.61;0.61	3.9	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61426	0.2346	M	0.70787	2.145	0.26717	N	0.970869	D	0.53745	0.962	P	0.61658	0.892	T	0.51888	-0.8648	9	0.87932	D	0	.	8.0146	0.30374	0.0925:0.1633:0.7443:0.0	.	645	Q9Y5E9	PCDBE_HUMAN	N	492;645	ENSP00000444518:K492N;ENSP00000239449:K645N	ENSP00000239449:K645N	K	+	3	2	PCDHB14	140585196	0.013000	0.17824	0.933000	0.37362	0.221000	0.24807	0.095000	0.15127	0.707000	0.31934	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	1	0	0	107	332	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	60	225	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB15	56121	broad.mit.edu	37	5	140625193	140625193	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140625193T>C	ENST00000231173.3	+	1	47	c.47T>C	c.(46-48)aTt>aCt	p.I16T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15			61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CAAGTCCTGATTCTCCTTCTT	0.532000																								0							SO:0001583	missense			ENST00000231173.3	1	1	hg19	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	9.688	1.151235	0.21371	.	.	ENSG00000113248	ENST00000231173	T	0.49720	0.77	4.6	4.6	0.57074	.	.	.	.	.	T	0.48677	0.1513	M	0.68728	2.09	0.25000	N	0.991476	B	0.10296	0.003	B	0.09377	0.004	T	0.46359	-0.9197	9	0.59425	D	0.04	.	13.643	0.62263	0.0:0.0:0.0:1.0	.	16	Q9Y5E8	PCDBF_HUMAN	T	16	ENSP00000231173:I16T	ENSP00000231173:I16T	I	+	2	0	PCDHB15	140605377	0.000000	0.05858	0.988000	0.46212	0.534000	0.34807	0.286000	0.18902	2.022000	0.59522	0.402000	0.26972	ATT		TCGA-IB-7651-01A-11D-2154-08	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	1	0	1	80	247	0	48	0	6.206356e-01	0	8	0	48	2		0	0	0	0	0	2	1	1	77	243	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHB15	56121	broad.mit.edu	37	5	140627157	140627157	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627157C>A	ENST00000231173.3	+	1	2011	c.2011C>A	c.(2011-2013)Ctg>Atg	p.L671M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15			61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TCAGCCCTACCTGCCGCTCCC	0.667000																								0							SO:0001583	missense			ENST00000231173.3	1	1	hg19	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058930	0.36277	.	.	ENSG00000113248	ENST00000231173	T	0.52526	0.66	4.58	2.62	0.31277	Cadherin (1);	.	.	.	.	T	0.52885	0.1762	L	0.58583	1.82	0.28329	N	0.921895	D	0.58970	0.984	P	0.55667	0.781	T	0.46345	-0.9198	9	0.59425	D	0.04	.	5.9376	0.19175	0.0:0.6574:0.1841:0.1585	.	671	Q9Y5E8	PCDBF_HUMAN	M	671	ENSP00000231173:L671M	ENSP00000231173:L671M	L	+	1	2	PCDHB15	140607341	0.184000	0.23200	0.998000	0.56505	0.505000	0.33919	-0.072000	0.11486	2.293000	0.77203	0.549000	0.68633	CTG		TCGA-IB-7651-01A-11D-2154-08	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	1	0	0	80	764	0	128	0	4.602039e-01	0	16	0	128	2		0	0	0	0	0	2	1	1	78	746	0	119	2								-19.994100	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.900000	1.000000	1.000000	0.992943	0.990000	1	9.900000e-01	1
PCDHB15	56121	broad.mit.edu	37	5	140627467	140627467	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627467T>G	ENST00000231173.3	+	1	2321	c.2321T>G	c.(2320-2322)aTt>aGt	p.I774S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15			61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TTCCCAAATATTGTAAGCCAG	0.443000																								0							SO:0001583	missense			ENST00000231173.3	1	1	hg19	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	8.494	0.862678	0.17178	.	.	ENSG00000113248	ENST00000231173	T	0.13657	2.57	4.39	0.331	0.15933	.	.	.	.	.	T	0.10895	0.0266	L	0.47078	1.49	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31251	-0.9950	9	0.49607	T	0.09	.	3.6539	0.08213	0.1313:0.0786:0.1362:0.6539	.	774	Q9Y5E8	PCDBF_HUMAN	S	774	ENSP00000231173:I774S	ENSP00000231173:I774S	I	+	2	0	PCDHB15	140607651	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	0.505000	0.22642	0.154000	0.19237	0.454000	0.30748	ATT		TCGA-IB-7651-01A-11D-2154-08	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	1	0	1	163	613	0	105	0	7.059941e-01	0	11	0	105	2		0	0	0	0	0	2	1	1	162	600	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A2	83884	broad.mit.edu	37	5	140682987	140682987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140682987C>T	ENST00000239451.4	-	1	625	c.446G>A	c.(445-447)aGc>aAc	p.S149N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2			19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	L-Ornithine(DB00129)	TGTATTATGGCTTTTTGCTAT	0.488000																								0							SO:0001583	missense			ENST00000239451.4	1	1	hg19	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	9.389	1.075023	0.20227	.	.	ENSG00000120329	ENST00000239451	T	0.79247	-1.25	3.78	2.91	0.33838	Mitochondrial carrier domain (2);	0.514389	0.22545	N	0.058679	T	0.68550	0.3013	L	0.47716	1.5	0.21527	N	0.999656	B	0.20368	0.044	B	0.23018	0.043	T	0.56183	-0.8021	10	0.28530	T	0.3	-21.2554	9.8762	0.41205	0.0:0.8956:0.0:0.1044	.	149	Q9BXI2	ORNT2_HUMAN	N	149	ENSP00000239451:S149N	ENSP00000239451:S149N	S	-	2	0	SLC25A2	140663171	1.000000	0.71417	0.005000	0.12908	0.759000	0.43091	6.595000	0.74109	1.181000	0.42912	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	1	0	1	111	543	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	111	534	1	149	16								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA2	56113	broad.mit.edu	37	5	140719048	140719048	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719048C>T	ENST00000394576.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2			77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TTCAGAAGTACGCACTCAACC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000394576.2	1	1	hg19	CCDS47289.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	1	0	0	45	464	0	122	0	2.306940e-02	0	3	0	122	2		0	0	0	0	0	2	1	1	44	457	0	121	2								-13.356990	1	1	121412	1	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.780000	1.000000	1.000000	0.968504	0.990000	1	9.100000e-01	1
PCDHGA2	56113	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	p.A331V(2)		77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTAACCAGAGCGAAGGTTATC	0.433000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000394576.2	1	1	hg19	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.536	0.659606	0.14645	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	2.52	0.30459	Cadherin (4);Cadherin-like (1);	0.595751	0.13836	U	0.359348	T	0.03220	0.0094	L	0.61218	1.895	0.09310	N	1	B;B	0.30326	0.107;0.276	B;B	0.34931	0.104;0.192	T	0.32587	-0.9901	10	0.62326	D	0.03	.	8.5125	0.33226	0.0:0.7322:0.1269:0.1409	.	331;331	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	331	ENSP00000378077:A331V	ENSP00000378077:A331V	A	+	2	0	PCDHGA2	140699714	0.000000	0.05858	0.189000	0.23252	0.058000	0.15608	-0.155000	0.10115	0.319000	0.23209	-0.878000	0.02970	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	1	0	0	41	931	1	203	0	1.901753e-03	0	2	1	203	2		0	0	0	0	0	2	1	9.995478e-01	41	916	1	204	17								-4.228338	1	1	121412	1	30	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.500000	0.360000	1.000000	0.500000	0.544457	0.500000	0	4.300000e-01	6.100000e-01
PCDHGA2	56113	broad.mit.edu	37	5	140719676	140719676	+	Missense_Mutation	SNP	G	G	A	rs149474643	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719676G>A	ENST00000394576.2	+	1	1138	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2			77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGGGCAGAACGCATTCACCAC	0.433000																								0							SO:0001583	missense			ENST00000394576.2	1	1	hg19	CCDS47289.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	16.25	3.069835	0.55539	.	.	ENSG00000081853	ENST00000394576	T	0.01838	4.61	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.182113	0.25427	U	0.030741	T	0.05318	0.0141	N	0.16567	0.415	0.36952	D	0.892929	D;D	0.65815	0.995;0.986	P;P	0.59357	0.856;0.804	T	0.53592	-0.8417	10	0.87932	D	0	.	18.0539	0.89358	0.0:0.0:1.0:0.0	.	380;380	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	380	ENSP00000378077:A380T	ENSP00000378077:A380T	A	+	1	0	PCDHGA2	140699860	1.000000	0.71417	0.994000	0.49952	0.020000	0.10135	5.407000	0.66363	2.434000	0.82447	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	1	0	1	73	392	0	114	0	1.214661e-01	0	4	0	114	2		0	0	0	0	0	2	1	1	72	388	0	113	2								-3.146952	1	1	121412	10	43	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA2	56113	broad.mit.edu	37	5	140720594	140720594	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720594G>A	ENST00000394576.2	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2			77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CATACCCAACGATTCGGACCT	0.682000																								0							SO:0001583	missense			ENST00000394576.2	1	1	hg19	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.710	1.156808	0.21454	2.27E-4	0.0	ENSG00000081853	ENST00000394576	T	0.48201	0.82	5.05	3.24	0.37175	.	0.543864	0.14979	U	0.287378	T	0.32496	0.0831	L	0.39326	1.205	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.15484	0.013;0.004	T	0.20773	-1.0265	10	0.30078	T	0.28	.	2.4419	0.04497	0.1658:0.1505:0.5281:0.1556	.	686;686	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	686	ENSP00000378077:D686N	ENSP00000378077:D686N	D	+	1	0	PCDHGA2	140700778	0.006000	0.16342	0.000000	0.03702	0.006000	0.05464	1.852000	0.39348	0.641000	0.30601	-0.515000	0.04445	GAT		TCGA-IB-7651-01A-11D-2154-08	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	0	0	1	197	878	1	214	0	8.907845e-02	0	3	1	214	2		0	0	0	0	0	2	1	1	186	815	1	206	17								-20.000000	1	0	121412	2	39	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA3	56112	broad.mit.edu	37	5	140724186	140724186	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724186C>A	ENST00000253812.6	+	1	586	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3			1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGAGCTGGTGCTGGAGCGGGC	0.542000																								0							SO:0001583	missense			ENST00000253812.6	1	1	hg19	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.513160	0.27123	.	.	ENSG00000254245	ENST00000253812	T	0.24723	1.84	5.65	2.92	0.33932	Cadherin (3);Cadherin-like (1);	0.000000	0.27379	U	0.019626	T	0.63094	0.2482	H	0.98314	4.2	0.21950	N	0.999452	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59968	-0.7354	10	0.87932	D	0	.	8.1665	0.31230	0.0:0.6332:0.0:0.3668	.	196;196	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	196	ENSP00000253812:L196M	ENSP00000253812:L196M	L	+	1	2	PCDHGA3	140704370	0.076000	0.21285	1.000000	0.80357	0.364000	0.29643	0.158000	0.16422	0.874000	0.35823	-0.136000	0.14681	CTG		TCGA-IB-7651-01A-11D-2154-08	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	1	0	1	80	371	0	80	0	1.498995e-01	0	4	0	80	2		0	0	0	0	0	2	1	1	80	357	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA3	56112	broad.mit.edu	37	5	140724569	140724569	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724569T>C	ENST00000253812.6	+	1	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3			1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AAGCACAGGATGGACCAGGTC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000253812.6	1	1	hg19	CCDS47290.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	1	0	1	71	274	0	67	0	1.121194e-01	0	3	0	67	2		0	0	0	0	0	2	1	1	70	266	0	65	2								-20.000000	1	1	120982	1	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA3	56112	broad.mit.edu	37	5	140724707	140724707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724707C>T	ENST00000253812.6	+	1	1107	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	p.I369I(1)		1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TTGCTCTTATCGACGTGCATG	0.438000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000253812.6	1	1	hg19	CCDS47290.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	1	0	0	38	385	0	114	0	8.576046e-03	0	2	0	114	2		0	0	0	0	0	2	1	1	38	378	0	112	2								-11.537500	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.770000	1.000000	1.000000	0.969418	0.990000	1	9.100000e-01	1
PCDHGB1	56104	broad.mit.edu	37	5	140730352	140730352	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140730352C>A	ENST00000523390.1	+	1	525	c.525C>A	c.(523-525)ttC>ttA	p.F175L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1			16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATCAATACTTCTCTCTGTCAA	0.443000																								0							SO:0001583	missense			ENST00000523390.1	1	1	hg19	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	18.17	3.564044	0.65651	.	.	ENSG00000254221	ENST00000523390	T	0.70749	-0.51	5.36	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88559	0.6469	H	0.97214	3.96	0.28420	N	0.917755	D;D	0.89917	1.0;0.984	D;D	0.80764	0.994;0.923	T	0.82263	-0.0544	9	0.87932	D	0	.	10.6944	0.45890	0.0:0.8366:0.0:0.1634	.	175;175	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	L	175	ENSP00000429273:F175L	ENSP00000429273:F175L	F	+	3	2	PCDHGB1	140710536	0.000000	0.05858	0.989000	0.46669	0.934000	0.57294	-0.549000	0.06041	1.324000	0.45282	0.563000	0.77884	TTC		TCGA-IB-7651-01A-11D-2154-08	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	1	0	0	104	1051	0	235	0	0	0	1	0	235	2		0	0	0	0	0	2	1	1	104	1035	0	231	2								-19.999990	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.880000	1.000000	1.000000	0.987695	0.990000	1	9.700000e-01	1
PCDHGB1	56104	broad.mit.edu	37	5	140731024	140731024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731024G>A	ENST00000523390.1	+	1	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1			16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATTATTACAAGCTGGTGATTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000523390.1	1	1	hg19	CCDS54923.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	1	0	1	26	108	0	25	0	1.807594e-01	0	4	0	25	2		0	0	0	0	0	2	1	1	25	106	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
PCDHGB1	56104	broad.mit.edu	37	5	140731436	140731436	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731436G>A	ENST00000523390.1	+	1	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	p.A537T(2)		16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGGCTCCCCCGCGCTCAGCGC	0.711000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000523390.1	0	1	hg19	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042731	0.36085	.	.	ENSG00000254221	ENST00000523390	T	0.52295	0.67	5.39	1.16	0.20824	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33000	0.0848	L	0.28274	0.84	0.23361	N	0.997831	B;B	0.34241	0.444;0.205	B;B	0.38458	0.18;0.274	T	0.25745	-1.0123	9	0.51188	T	0.08	.	3.9761	0.09475	0.1431:0.3148:0.4298:0.1123	.	537;537	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	537	ENSP00000429273:A537T	ENSP00000429273:A537T	A	+	1	0	PCDHGB1	140711620	0.000000	0.05858	0.969000	0.41365	0.748000	0.42578	-0.363000	0.07593	0.294000	0.22547	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	1	0	1	51	489	1	80		0	0	0	1	80	2		0	0	0	0	0	2	1	9.999217e-01	50	484	1	80	21								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.850000	1.000000	1.000000	0.986431	0.990000	1	9.800000e-01	1
PCDHGA4	56111	broad.mit.edu	37	5	140735709	140735709	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140735709C>T	ENST00000571252.1	+	1	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACTCTGGATTCTATGACATAG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000571252.1	1	1	hg19	CCDS58979.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	1	0	1	29	88	0	28	0	1.609313e-01	0	3	0	28	2		0	0	0	0	0	2	1	1	28	87	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGB2	56103	broad.mit.edu	37	5	140741634	140741634	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140741634C>T	ENST00000522605.1	+	1	1932	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2			14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCCTGCTGGTCGCTGTGCGTG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000522605.1	0	1	hg19	CCDS54924.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	0	0	0	33	162	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	30	147	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
PCDHGA5	56110	broad.mit.edu	37	5	140746123	140746123	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140746123C>T	ENST00000518069.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5			18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACTTTGTGGGCGTGGATGGGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000518069.1	1	1	hg19	CCDS54925.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	1	0	1	169	640	0	155	0	3.675606e-01	0	6	0	155	2		0	0	0	0	0	2	1	1	167	623	0	152	2								-3.914945	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGB3	56102	broad.mit.edu	37	5	140751489	140751489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140751489C>T	ENST00000576222.1	+	1	1659	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGTGAGCGCGCGGAGCGGGGT	0.667000																								0							SO:0001583	missense			ENST00000576222.1	1	1	hg19	CCDS58980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	1	0	1	94	399	0	95	0	3.699617e-02	0	2	0	95	2		0	0	0	0	0	2	1	1	91	394	0	92	2								-3.574129	1	1	121046	27	47	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA6	56109	broad.mit.edu	37	5	140754632	140754632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754632C>T	ENST00000517434.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCCAGGTCTTCGAGACAGAGC	0.428000																								0							SO:0001587	stop_gained			ENST00000517434.1	0	1	hg19	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764994	0.69878	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	1.19	0.21007	.	3.053800	0.03411	U	0.204832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.5292	0.07770	0.5634:0.2093:0.1253:0.102	.	.	.	.	X	328	.	ENSP00000429601:R328X	R	+	1	2	PCDHGA6	140734816	0.000000	0.05858	0.582000	0.28627	0.675000	0.39556	-0.383000	0.07398	0.355000	0.24131	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	1	127	665	0	187	0	3.149104e-01	0	7	0	187	2		0	0	0	0	0	2	1	1	127	655	0	187	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA6	56109	broad.mit.edu	37	5	140754948	140754948	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754948C>T	ENST00000517434.1	+	1	1298	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCACCTCTGTCTACAGAAACA	0.463000																								0							SO:0001583	missense			ENST00000517434.1	1	1	hg19	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.110886	0.37242	.	.	ENSG00000253731	ENST00000517434	T	0.55052	0.54	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.31145	U	0.008180	T	0.79293	0.4421	M	0.92738	3.34	0.32337	N	0.56034	P;D	0.56746	0.906;0.977	P;D	0.67231	0.66;0.95	D	0.84431	0.0577	10	0.59425	D	0.04	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	433;433	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	F	433	ENSP00000429601:S433F	ENSP00000429601:S433F	S	+	2	0	PCDHGA6	140735132	0.719000	0.27986	0.909000	0.35828	0.004000	0.04260	1.771000	0.38542	2.885000	0.99019	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	1	124	488	0	150	0	4.326308e-01	0	7	0	150	2		0	0	0	0	0	2	1	1	118	474	0	148	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA6	56109	broad.mit.edu	37	5	140755255	140755255	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140755255C>T	ENST00000517434.1	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGACAGCCAGCGACAGCGGGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000517434.1	1	1	hg19	CCDS54926.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	0	225	915	0	205	0	1.773230e-01	0	4	0	205	2		0	0	0	0	0	2	1	1	221	900	0	202	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA7	56108	broad.mit.edu	37	5	140764319	140764319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140764319C>T	ENST00000518325.1	+	1	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7			49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGACTCTTTGCGGTTGGGCTG	0.642000																								0							SO:0001583	missense			ENST00000518325.1	1	1	hg19	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	3.265	-0.150381	0.06585	.	.	ENSG00000253537	ENST00000518325	T	0.53206	0.63	5.01	0.145	0.14829	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28134	0.0694	N	0.17278	0.47	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.19391	0.025;0.005	T	0.24190	-1.0167	9	0.72032	D	0.01	.	4.0537	0.09806	0.2449:0.4047:0.0:0.3505	.	618;618	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	618	ENSP00000430024:A618V	ENSP00000430024:A618V	A	+	2	0	PCDHGA7	140744503	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.477000	0.00985	-0.210000	0.10140	-0.123000	0.14984	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	1	0	0	24	436	0	108	0	8.762510e-03	0	3	0	108	2		0	0	0	0	0	2	1	9.999995e-01	24	418	0	98	2								-3.221883	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.630000	0.410000	1.000000	0.610000	0.661313	0.630000	0	5.100000e-01	8.000000e-01
PCDHGA8	9708	broad.mit.edu	37	5	140772663	140772663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140772663C>A	ENST00000398604.2	+	1	283	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8			51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCGGGAGGAGCTCTGCGCTCA	0.517000																								0							SO:0001583	missense			ENST00000398604.2	1	1	hg19	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	9.529	1.110383	0.20714	.	.	ENSG00000253767	ENST00000398604	T	0.39592	1.07	5.26	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.351709	0.15671	U	0.250390	T	0.41351	0.1155	L	0.52126	1.63	0.25431	N	0.988188	B;B	0.25486	0.127;0.048	B;B	0.35971	0.215;0.096	T	0.33979	-0.9847	10	0.19147	T	0.46	.	13.2724	0.60167	0.3938:0.6062:0.0:0.0	.	95;95	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	I	95	ENSP00000381605:L95I	ENSP00000381605:L95I	L	+	1	0	PCDHGA8	140752847	0.974000	0.33945	1.000000	0.80357	0.888000	0.51559	0.579000	0.23788	1.210000	0.43336	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	1	0	1	77	336	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	1	77	332	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA8	9708	broad.mit.edu	37	5	140774173	140774173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140774173C>T	ENST00000398604.2	+	1	1793	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8			51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GACAGAGACTCGGGCCAGAAC	0.711000																								0							SO:0001583	missense			ENST00000398604.2	0	1	hg19	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	25.7	4.663205	0.88251	.	.	ENSG00000253767	ENST00000398604	T	0.49432	0.78	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.000000	0.28214	U	0.016170	T	0.71417	0.3337	M	0.80028	2.48	0.42614	D	0.993329	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.76697	-0.2864	10	0.87932	D	0	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	598;598	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	L	598	ENSP00000381605:S598L	ENSP00000381605:S598L	S	+	2	0	PCDHGA8	140754357	0.972000	0.33761	0.972000	0.41901	0.996000	0.88848	2.485000	0.45250	2.366000	0.80165	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	0	0	0	83	434	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	78	404	0	78	2								-2.971879	1	1	121330	1	33	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA9	56107	broad.mit.edu	37	5	140783171	140783171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783171G>A	ENST00000573521.1	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTCGGATGGCGGCGAGCCGCG	0.582000																								0							SO:0001583	missense			ENST00000573521.1	1	1	hg19	CCDS58981.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	1	0	1	55	247	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	54	241	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA9	56107	broad.mit.edu	37	5	140783390	140783390	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783390C>A	ENST00000573521.1	+	1	871	c.871C>A	c.(871-873)Cta>Ata	p.L291I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACAATCTCTGCTATTCCAGCT	0.383000																								0							SO:0001583	missense			ENST00000573521.1	1	1	hg19	CCDS58981.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	1	0	1	97	481	0	120	0	4.020090e-01	0	8	0	120	2		0	0	0	0	0	2	1	1	97	473	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA9	56107	broad.mit.edu	37	5	140784352	140784352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784352C>A	ENST00000573521.1	+	1	1833	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TATTCAAGGCCAGTGAGCCAG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000573521.1	1	1	hg19	CCDS58981.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	0	0	1	91	429	1	95	0	6.924549e-01	1	12	1	95	2		0	0	0	0	0	2	1	1	90	415	1	95	18								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA9	56107	broad.mit.edu	37	5	140784497	140784497	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784497C>T	ENST00000573521.1	+	1	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CACTGTCACGCTCACAGTAGC	0.602000																								0							SO:0001583	missense			ENST00000573521.1	1	1	hg19	CCDS58981.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	1	0	1	79	303	0	67	0	7.435998e-01	1	11	0	67	2		0	0	0	0	0	2	1	1	78	302	0	66	2								-20.000000	1	1	121330	1	28	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA9	56107	broad.mit.edu	37	5	140784890	140784890	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784890T>G	ENST00000573521.1	+	1	2371	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AAATGAGCCTTTGTGCGTCTC	0.443000																								0							SO:0001583	missense			ENST00000573521.1	1	1	hg19	CCDS58981.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	0	0	1	67	335	1	103	0	3.348065e-01	1	6	1	103	2		0	0	0	0	0	2	1	1	66	327	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGB6	56100	broad.mit.edu	37	5	140788005	140788005	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140788005C>T	ENST00000520790.1	+	1	236	c.236C>T	c.(235-237)gCg>gTg	p.A79V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6			48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGCGTAGACGCGGAGAGCGGG	0.532000																								0							SO:0001583	missense			ENST00000520790.1	1	1	hg19	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	9.378	1.072243	0.20147	.	.	ENSG00000253305	ENST00000520790	T	0.38722	1.12	5.38	0.674	0.17946	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31358	0.0794	L	0.42008	1.315	0.09310	N	1	P;P	0.46952	0.813;0.887	B;B	0.43658	0.426;0.3	T	0.17868	-1.0355	9	0.13470	T	0.59	.	6.4485	0.21890	0.0:0.4606:0.2178:0.3216	.	79;79	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	V	79	ENSP00000428603:A79V	ENSP00000428603:A79V	A	+	2	0	PCDHGB6	140768189	0.000000	0.05858	0.942000	0.38095	0.936000	0.57629	-3.008000	0.00649	-0.082000	0.12640	0.467000	0.42956	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	1	0	1	124	464	0	98	0	2.874480e-01	0	5	0	98	2		0	0	0	0	0	2	1	1	122	459	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGB6	56100	broad.mit.edu	37	5	140789477	140789477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140789477G>A	ENST00000520790.1	+	1	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6			48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCTGGGTCCTGACGGCTCCGC	0.652000																								0							SO:0001583	missense			ENST00000520790.1	1	1	hg19	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	10.42	1.345171	0.24426	.	.	ENSG00000253305	ENST00000520790	T	0.48522	0.81	5.36	5.36	0.76844	Cadherin-like (1);	.	.	.	.	T	0.45637	0.1352	N	0.13352	0.335	0.09310	N	1	D;D	0.62365	0.991;0.983	D;D	0.64595	0.917;0.927	T	0.30208	-0.9986	9	0.28530	T	0.3	.	7.8633	0.29522	0.0858:0.1639:0.7503:0.0	.	570;570	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	570	ENSP00000428603:D570N	ENSP00000428603:D570N	D	+	1	0	PCDHGB6	140769661	0.057000	0.20700	0.498000	0.27564	0.025000	0.11179	2.332000	0.43903	2.517000	0.84864	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	1	0	1	39	109	0	28	0	4.018394e-01	0	5	0	28	2		0	0	0	0	0	2	1	1	39	107	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA10	56106	broad.mit.edu	37	5	140792997	140792997	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140792997C>T	ENST00000398610.2	+	1	255	c.255C>T	c.(253-255)agC>agT	p.S85S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10			43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACCCGCGCAGCGGCAGCTTGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000398610.2	1	1	hg19	CCDS47292.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	0	0	0	24	887	0	165	0	4.491788e-03	0	4	0	165	2		0	0	0	0	0	2	1	9.999996e-01	24	881	0	164	2								-2.927606	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.320000	0.200000	1.000000	0.310000	0.372179	0.320000	0	2.500000e-01	4.100000e-01
PCDHGA10	56106	broad.mit.edu	37	5	140793471	140793471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140793471G>A	ENST00000398610.2	+	1	729	c.729G>A	c.(727-729)gcG>gcA	p.A243A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10			43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATGACAACGCGCCGGTCTTCA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000398610.2	1	1	hg19	CCDS47292.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	1	0	1	52	207	0	47	0	5.694883e-01	0	9	0	47	2		0	0	0	0	0	2	1	1	51	202	0	46	2								-3.653232	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGB7	56099	broad.mit.edu	37	5	140798805	140798805	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140798805A>G	ENST00000398594.2	+	1	1379	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7			56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TACCTGGTCCACGTGCCAGAA	0.572000																								0							SO:0001583	missense			ENST00000398594.2	1	1	hg19	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	14.31	2.497983	0.44455	.	.	ENSG00000254122	ENST00000398594	T	0.49139	0.79	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	1.371310	0.06276	U	0.696544	T	0.49525	0.1562	N	0.11284	0.12	0.23126	N	0.998253	P;P	0.49783	0.928;0.907	P;P	0.55260	0.772;0.586	T	0.57248	-0.7844	10	0.66056	D	0.02	.	15.0833	0.72130	1.0:0.0:0.0:0.0	.	460;460	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	460	ENSP00000381594:H460R	ENSP00000381594:H460R	H	+	2	0	PCDHGB7	140778989	0.000000	0.05858	0.083000	0.20561	0.702000	0.40608	1.074000	0.30703	2.036000	0.60181	0.402000	0.26972	CAC		TCGA-IB-7651-01A-11D-2154-08	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	1	0	1	73	374	0	86	0	6.920829e-01	0	14	0	86	2		0	0	0	0	0	2	1	1	73	368	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGB7	56099	broad.mit.edu	37	5	140799067	140799067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799067C>A	ENST00000398594.2	+	1	1641	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7			56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCAATGTGAGCCTGCGCGTGT	0.711000																								0							SO:0001583	missense			ENST00000398594.2	1	1	hg19	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.71	2.915298	0.52546	.	.	ENSG00000254122	ENST00000398594	T	0.51574	0.7	5.38	2.48	0.30137	Cadherin (5);Cadherin-like (1);	0.234553	0.20219	U	0.096729	T	0.51856	0.1699	L	0.45744	1.44	0.21841	N	0.999514	D;D	0.67145	0.996;0.972	D;P	0.68943	0.961;0.891	T	0.39502	-0.9611	10	0.87932	D	0	.	2.0696	0.03610	0.1243:0.4274:0.2234:0.2249	.	547;547	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	R	547	ENSP00000381594:S547R	ENSP00000381594:S547R	S	+	3	2	PCDHGB7	140779251	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.059000	0.11731	1.270000	0.44297	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	1	0	1	49	235	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	49	232	0	51	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGB7	56099	broad.mit.edu	37	5	140799113	140799113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799113C>A	ENST00000398594.2	+	1	1687	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7			56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACCGCGGGTGCTGTACCCTGC	0.721000																								0							SO:0001583	missense			ENST00000398594.2	1	1	hg19	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.723682	0.48728	.	.	ENSG00000254122	ENST00000398594	T	0.61980	0.06	5.38	4.51	0.55191	Cadherin-like (1);	0.000000	0.28624	U	0.014683	T	0.81640	0.4865	M	0.89840	3.065	0.23661	N	0.99718	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.75764	-0.3203	10	0.87932	D	0	.	12.9582	0.58442	0.0:0.9204:0.0:0.0796	.	563;563	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	563	ENSP00000381594:L563M	ENSP00000381594:L563M	L	+	1	2	PCDHGB7	140779297	0.071000	0.21146	1.000000	0.80357	0.813000	0.45954	0.749000	0.26320	1.270000	0.44297	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	1	0	1	52	238	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	52	234	0	57	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA11	56105	broad.mit.edu	37	5	140802413	140802413	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140802413A>G	ENST00000398587.2	+	1	1652	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11			49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GACAGCGGGGACCCGCCCCTC	0.562000																								0							SO:0001583	missense			ENST00000398587.2	1	1	hg19	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	a	7.478	0.648163	0.14516	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.49432	0.78;0.78	5.72	4.5	0.54988	Cadherin (4);Cadherin-like (1);	1.020620	0.07964	U	0.982835	T	0.36413	0.0966	N	0.16602	0.42	0.23356	N	0.997842	B;B;B	0.26876	0.071;0.162;0.036	B;B;B	0.28638	0.068;0.092;0.087	T	0.27191	-1.0081	10	0.66056	D	0.02	.	11.175	0.48595	0.6659:0.3341:0.0:0.0	.	540;540;540	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	G	540	ENSP00000381589:D540G;ENSP00000428333:D540G	ENSP00000381589:D540G	D	+	2	0	PCDHGA11	140782597	0.003000	0.15002	0.684000	0.30055	0.018000	0.09664	2.131000	0.42074	2.189000	0.69895	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	0	0	1	240	1115	0	255	0	3.150905e-02	0	2	0	255	2		0	0	0	0	0	2	1	1	237	1093	0	252	2								-2.814577	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA12	26025	broad.mit.edu	37	5	140810381	140810381	+	Missense_Mutation	SNP	C	C	A	rs138641753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140810381C>A	ENST00000252085.3	+	1	197	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12			58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCTGGGAATCCTCCTGGGGAC	0.537000																								0							SO:0001583	missense			ENST00000252085.3	1	1	hg19	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	4.038	0.004618	0.07866	.	.	ENSG00000253159	ENST00000252085	T	0.54479	0.57	5.57	-1.04	0.10068	.	.	.	.	.	T	0.49525	0.1562	M	0.69248	2.105	0.09310	N	1	P;B	0.35872	0.525;0.307	B;B	0.37387	0.248;0.138	T	0.45264	-0.9273	9	0.52906	T	0.07	.	10.0467	0.42190	0.0:0.2627:0.5489:0.1884	.	19;19	O60330-2;O60330	.;PCDGC_HUMAN	I	19	ENSP00000252085:L19I	ENSP00000252085:L19I	L	+	1	0	PCDHGA12	140790565	0.000000	0.05858	0.158000	0.22627	0.016000	0.09150	-1.337000	0.02657	-0.272000	0.09259	-0.219000	0.12488	CTC		TCGA-IB-7651-01A-11D-2154-08	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	1	0	1	117	595	0	134	0	6.116357e-01	0	12	0	134	2		0	0	0	0	0	2	1	1	114	586	0	133	2								-5.401137	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGA12	26025	broad.mit.edu	37	5	140811072	140811072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811072C>T	ENST00000252085.3	+	1	888	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12			58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GAGTACCGCGCGAGCGTTCCG	0.637000																								0							SO:0001583	missense			ENST00000252085.3	1	1	hg19	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.624354	0.00820	.	.	ENSG00000253159	ENST00000252085	T	0.52295	0.67	5.09	-1.7	0.08159	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.09949	0.0244	N	0.00289	-1.7	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.33266	-0.9875	9	0.02654	T	1	.	5.4684	0.16656	0.1142:0.2523:0.0:0.6335	.	249;249	O60330-2;O60330	.;PCDGC_HUMAN	V	249	ENSP00000252085:A249V	ENSP00000252085:A249V	A	+	2	0	PCDHGA12	140791256	0.977000	0.34250	0.129000	0.21949	0.489000	0.33432	1.584000	0.36589	-0.416000	0.07473	-1.707000	0.00718	GCG		TCGA-IB-7651-01A-11D-2154-08	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	1	0	0	23	439	0	84	0	6.225498e-02	0	8	0	84	2		0	0	0	0	0	2	1	9.999994e-01	23	436	0	82	2								-19.999830	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.600000	0.390000	1.000000	0.580000	0.635460	0.600000	0	4.800000e-01	7.700000e-01
PCDHGA12	26025	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12			58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCCTTGGGCACGCAGCTGCTT	0.597000																								0							SO:0001583	missense			ENST00000252085.3	1	1	hg19	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282306	0.40394	.	.	ENSG00000253159	ENST00000252085	T	0.58358	0.34	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81088	0.4750	H	0.94964	3.605	0.28706	N	0.903812	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.78790	-0.2066	9	0.66056	D	0.02	.	17.9729	0.89118	0.0:1.0:0.0:0.0	.	259;259	O60330-2;O60330	.;PCDGC_HUMAN	M	259	ENSP00000252085:T259M	ENSP00000252085:T259M	T	+	2	0	PCDHGA12	140791286	0.029000	0.19370	0.948000	0.38648	0.063000	0.16089	3.056000	0.49923	2.566000	0.86566	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	1	0	1	88	361	0	90	0	6.667552e-01	0	11	0	90	2		0	0	0	0	0	2	1	1	88	359	0	90	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGC3	5098	broad.mit.edu	37	5	140856674	140856674	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856674C>T	ENST00000308177.3	+	1	1095	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3			29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGGCGCCAATCCCGAAGGAGC	0.542000																								0							SO:0001583	missense			ENST00000308177.3	1	1	hg19	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572384	0.13623	.	.	ENSG00000240184	ENST00000308177	T	0.55413	0.52	5.49	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34337	0.0894	L	0.31476	0.935	0.09310	N	1	B;P	0.37731	0.134;0.607	B;B	0.30782	0.084;0.12	T	0.08848	-1.0702	9	0.12430	T	0.62	.	11.1109	0.48232	0.0:0.8591:0.0:0.1409	.	331;331	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	S	331	ENSP00000312070:P331S	ENSP00000312070:P331S	P	+	1	0	PCDHGC3	140836858	0.001000	0.12720	0.992000	0.48379	0.976000	0.68499	0.869000	0.27996	2.865000	0.98341	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	0	0	1	63	283	1	76	1	9.425647e-01	7	25	1	76	3		0	0	0	0	0	2	1	1	63	280	1	76	16								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGC3	5098	broad.mit.edu	37	5	140856829	140856829	+	Silent	SNP	C	C	T	rs60063068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856829C>T	ENST00000308177.3	+	1	1250	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3			29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGGATGCTGGCGAGAACGGGC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000308177.3	1	1	hg19	CCDS4261.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	1	0	1	49	179	0	46	1	9.895136e-01	7	22	0	46	2		0	0	0	0	0	2	1	1	48	172	0	45	2								-3.277678	1	1	121412	53	46	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGC4	56098	broad.mit.edu	37	5	140867053	140867053	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140867053C>A	ENST00000306593.1	+	1	2313	c.2313C>A	c.(2311-2313)ggC>ggA	p.G771G	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4			42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACTCTCATGGCTGTACACCCT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000306593.1	1	1	hg19	CCDS4262.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	1	0	1	51	237	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	1	50	237	0	72	2								-3.306799	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGC5	56097	broad.mit.edu	37	5	140870231	140870231	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870231C>T	ENST00000252087.1	+	1	1424	c.1424C>T	c.(1423-1425)aCt>aTt	p.T475I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5			35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTTCTTTGCACTGTGGCTGCC	0.527000																								0							SO:0001583	missense			ENST00000252087.1	1	1	hg19	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544687	0.27563	.	.	ENSG00000240764	ENST00000252087	T	0.02446	4.29	5.56	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.06600	0.0169	M	0.74881	2.28	0.34109	D	0.662799	B;B	0.20261	0.043;0.014	B;B	0.23574	0.021;0.047	T	0.02075	-1.1218	10	0.66056	D	0.02	.	14.3616	0.66776	0.0:0.9284:0.0:0.0716	.	475;475	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	I	475	ENSP00000252087:T475I	ENSP00000252087:T475I	T	+	2	0	PCDHGC5	140850415	0.002000	0.14202	0.979000	0.43373	0.982000	0.71751	1.316000	0.33620	1.582000	0.49881	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	0	0	1	194	1017	0	266		0	0	0	0	266	2		0	0	0	0	0	2	1	1	192	993	0	263	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGC5	56097	broad.mit.edu	37	5	140870737	140870737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870737G>A	ENST00000252087.1	+	1	1930	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5			35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CACCCAGCAGGTGGTGGTCCT	0.597000																								0							SO:0001583	missense			ENST00000252087.1	1	1	hg19	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477826	0.44044	.	.	ENSG00000240764	ENST00000252087	T	0.21543	2.0	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000173	T	0.30978	0.0782	L	0.49350	1.555	0.30895	N	0.729866	D;P	0.56521	0.976;0.939	P;P	0.56563	0.779;0.801	T	0.30357	-0.9981	10	0.87932	D	0	.	8.2092	0.31473	0.083:0.2734:0.6435:0.0	.	644;644	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	644	ENSP00000252087:V644M	ENSP00000252087:V644M	V	+	1	0	PCDHGC5	140850921	0.453000	0.25721	1.000000	0.80357	0.994000	0.84299	1.513000	0.35823	2.753000	0.94483	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	1	0	1	63	252	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1	62	245	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDHGC5	56097	broad.mit.edu	37	5	140870861	140870861	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870861C>A	ENST00000252087.1	+	1	2054	c.2054C>A	c.(2053-2055)cCt>cAt	p.P685H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5			35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATACACCCTCCTGAGCGTTCA	0.537000																								0							SO:0001583	missense			ENST00000252087.1	1	1	hg19	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840067	0.16891	.	.	ENSG00000240764	ENST00000252087	T	0.49720	0.77	4.7	3.76	0.43208	.	0.174914	0.28724	N	0.014353	T	0.45337	0.1337	L	0.46157	1.445	0.09310	N	1	P;P	0.51240	0.943;0.844	P;B	0.46940	0.532;0.195	T	0.43032	-0.9416	10	0.66056	D	0.02	.	10.9736	0.47452	0.1482:0.7223:0.1295:0.0	.	685;685	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	H	685	ENSP00000252087:P685H	ENSP00000252087:P685H	P	+	2	0	PCDHGC5	140851045	0.000000	0.05858	0.993000	0.49108	0.395000	0.30598	0.178000	0.16820	2.428000	0.82296	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	0	0	1	163	828	0	197	0	2.741525e-02	0	2	0	197	2		0	0	0	0	0	2	1	1	160	814	0	190	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIAPH1	1729	broad.mit.edu	37	5	140903715	140903715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140903715C>T	ENST00000398557.4	-	27	3796	c.3656G>A	c.(3655-3657)cGt>cAt	p.R1219H	DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R1216H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R1220H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1			23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTTACCTTGACGGGGCCCTCT	0.532000																								0							SO:0001583	missense			ENST00000398557.4	1	1	hg19	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639715	0.87760	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.83335	-1.69;-1.68;-1.57;-1.71;-1.7;-1.71;-1.7;-1.69	5.6	5.6	0.85130	Diaphanous autoregulatory (1);	0.060394	0.64402	D	0.000002	D	0.89515	0.6737	L	0.54323	1.7	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	D	0.89446	0.3727	10	0.56958	D	0.05	.	18.3841	0.90461	0.0:1.0:0.0:0.0	.	1209;1210;1219	A0RZB8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	1216;1162;1195;1210;1211;1219;1220;1207	ENSP00000373706:R1216H;ENSP00000429282:R1162H;ENSP00000381570:R1195H;ENSP00000373709:R1210H;ENSP00000381572:R1211H;ENSP00000381565:R1219H;ENSP00000253811:R1220H;ENSP00000428268:R1207H	ENSP00000253811:R1220H	R	-	2	0	DIAPH1	140883899	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.183000	0.77697	2.647000	0.89833	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	77	325	0	76	1	1	208	392	0	76	2		0	0	0	0	0	2	1	1	77	316	0	75	2								-20.000000	1	1	120994	2	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIAPH1	1729	broad.mit.edu	37	5	140913993	140913993	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140913993C>A	ENST00000398557.4	-	19	2630	c.2490G>T	c.(2488-2490)aaG>aaT	p.K830N	DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K827N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K831N|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1			23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTTCTTGATCCTTCTTGGCTA	0.413000																								0							SO:0001583	missense			ENST00000398557.4	1	1	hg19	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	39	7.439464	0.98286	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;D;T;D;T	0.83506	2.24;2.24;2.24;-0.15;-1.73;-0.15;-1.73;2.24	5.62	1.85	0.25348	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.056142	0.64402	D	0.000002	D	0.88607	0.6482	M	0.78916	2.43	0.51482	D	0.999924	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.958;0.958	D	0.85853	0.1405	10	0.45353	T	0.12	.	8.7768	0.34767	0.0:0.5452:0.0:0.4547	.	773;821;830	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	N	827;773;806;821;822;830;831;818;269	ENSP00000373706:K827N;ENSP00000429282:K773N;ENSP00000381570:K806N;ENSP00000373709:K821N;ENSP00000381572:K822N;ENSP00000381565:K830N;ENSP00000253811:K831N;ENSP00000428268:K818N	ENSP00000253811:K831N	K	-	3	2	DIAPH1	140894177	0.955000	0.32602	1.000000	0.80357	0.975000	0.68041	-0.030000	0.12308	0.321000	0.23259	-0.145000	0.13849	AAG		TCGA-IB-7651-01A-11D-2154-08	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	58	254	0	52	1	1	123	263	0	52	2		0	0	0	0	0	2	1	1	57	251	0	52	2								-3.066183	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIAPH1	1729	broad.mit.edu	37	5	140962828	140962828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140962828C>T	ENST00000398557.4	-	6	705	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000253811.6_Missense_Mutation_p.A189T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1			23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AATAAGGAGGCCAAGCCTTCA	0.413000																								0							SO:0001583	missense			ENST00000398557.4	1	1	hg19	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356752	0.61293	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.92	3.16	0.36331	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	T	0.76183	0.3952	N	0.25647	0.755	0.36354	D	0.860293	B;P	0.35192	0.429;0.489	B;B	0.25291	0.043;0.059	T	0.72487	-0.4278	10	0.48119	T	0.1	.	4.3467	0.11136	0.2726:0.5099:0.0:0.2175	.	180;189	E9PEZ2;O60610	.;DIAP1_HUMAN	T	189;135;180;180;180;189;189;180	ENSP00000373706:A189T;ENSP00000429282:A135T;ENSP00000381570:A180T;ENSP00000373709:A180T;ENSP00000381572:A180T;ENSP00000381565:A189T;ENSP00000253811:A189T;ENSP00000428268:A180T	ENSP00000253811:A189T	A	-	1	0	DIAPH1	140943012	0.920000	0.31207	1.000000	0.80357	0.989000	0.77384	1.064000	0.30579	0.394000	0.25230	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	144	553	0	157	1	1	86	147	0	157	2		0	0	0	0	0	2	1	1	140	539	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARAP3	64411	broad.mit.edu	37	5	141041335	141041335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141041335C>T	ENST00000239440.4	-	21	3100	c.3035G>A	c.(3034-3036)cGc>cAc	p.R1012H	ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H|ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3			53					TTTCTCCAGGCGCTGATTCTT	0.572000																								0							SO:0001583	missense			ENST00000239440.4	1	1	hg19	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408784	0.96072	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.22743	1.94;1.94;1.94	5.33	5.33	0.75918	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061089	0.64402	D	0.000011	T	0.59252	0.2180	M	0.93763	3.455	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.989;0.989	T	0.70059	-0.4976	10	0.87932	D	0	.	18.8077	0.92045	0.0:1.0:0.0:0.0	.	674;843;1012	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	843;1012;674	ENSP00000421826:R843H;ENSP00000239440:R1012H;ENSP00000421468:R674H	ENSP00000239440:R1012H	R	-	2	0	ARAP3	141021519	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.156000	0.77453	2.777000	0.95525	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	1	0	1	137	534	0	115	1	4.366772e-01	2	5	0	115	2		0	0	0	0	0	2	1	1	136	526	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARAP3	64411	broad.mit.edu	37	5	141046090	141046090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141046090C>T	ENST00000239440.4	-	17	2538	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S|ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3			53					CGAAGGAGGCCAAACCCTGAC	0.706000																								0							SO:0001583	missense			ENST00000239440.4	1	1	hg19	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491677	0.64074	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.28895	1.59;1.59;1.59	5.53	5.53	0.82687	Pleckstrin homology domain (1);	0.240387	0.40302	N	0.001133	T	0.37156	0.0993	N	0.22421	0.69	0.36747	D	0.882547	D;D;D	0.67145	0.979;0.996;0.993	P;P;P	0.61477	0.69;0.889;0.777	T	0.42498	-0.9448	10	0.66056	D	0.02	.	12.3757	0.55279	0.2788:0.7212:0.0:0.0	.	487;727;825	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	S	727;825;487	ENSP00000421826:G727S;ENSP00000239440:G825S;ENSP00000421468:G487S	ENSP00000239440:G825S	G	-	1	0	ARAP3	141026274	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	5.232000	0.65332	2.593000	0.87608	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	1	0	1	20	95	0	16	0	6.494713e-01	0	12	0	16	2		0	0	0	0	0	2	1	9.999976e-01	20	95	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999882	0.990000	1	9.900000e-01	1
ARAP3	64411	broad.mit.edu	37	5	141059831	141059831	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059831A>G	ENST00000239440.4	-	2	288	c.223T>C	c.(223-225)Tca>Cca	p.S75P	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3			53					GCACTATCTGATTTGGGATCC	0.632000																								0							SO:0001583	missense			ENST00000239440.4	1	1	hg19	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	A	2.403	-0.337227	0.05278	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	T;T	0.58652	3.17;0.32	4.35	-1.53	0.08611	.	1.612410	0.03777	N	0.260768	T	0.36248	0.0960	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.29301	T	0.29	.	8.6091	0.33791	0.3899:0.0:0.6101:0.0	.	75	Q8WWN8	ARAP3_HUMAN	P	75	ENSP00000239440:S75P;ENSP00000421148:S75P	ENSP00000239440:S75P	S	-	1	0	ARAP3	141040015	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.024000	0.13555	-0.140000	0.11394	0.374000	0.22700	TCA		TCGA-IB-7651-01A-11D-2154-08	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	1	0	1	132	560	0	99	1	8.368933e-01	3	13	0	99	2		0	0	0	0	0	2	1	1	130	547	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARAP3	64411	broad.mit.edu	37	5	141059951	141059951	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059951C>T	ENST00000239440.4	-	2	168	c.103G>A	c.(103-105)Gca>Aca	p.A35T	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3			53					CCCCGGGCTGCACCTGCTGTA	0.647000																								0							SO:0001583	missense			ENST00000239440.4	1	1	hg19	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652939	0.88056	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;T	0.85702	-2.02;-0.02	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.080522	0.47093	D	0.000241	D	0.86464	0.5939	L	0.41356	1.27	0.80722	D	1	P	0.51791	0.948	P	0.57371	0.819	D	0.87025	0.2131	10	0.52906	T	0.07	.	13.7861	0.63110	0.0:1.0:0.0:0.0	.	35	Q8WWN8	ARAP3_HUMAN	T	35	ENSP00000239440:A35T;ENSP00000421148:A35T	ENSP00000239440:A35T	A	-	1	0	ARAP3	141040135	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	3.638000	0.54332	2.272000	0.75746	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	1	0	1	69	298	0	58	1	4.647516e-01	3	5	0	58	2		0	0	0	0	0	2	1	1	69	295	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH1	5097	broad.mit.edu	37	5	141243182	141243182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141243182G>A	ENST00000394536.3	-	3	2853	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V|PCDH1_ENST00000287008.3_Missense_Mutation_p.A905V|PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1			51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCCCTTGGAGGCCTTGCCACT	0.577000													Ovarian(132;1609 1739 4190 14731 45037)											0							SO:0001583	missense			ENST00000394536.3	1	1	hg19	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	8.032	0.761876	0.15914	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.75	2.83	0.33086	Protocadherin (1);	0.408346	0.20264	N	0.095810	T	0.12646	0.0307	N	0.08118	0	0.29329	N	0.866811	B;B	0.29301	0.183;0.241	B;B	0.27887	0.084;0.037	T	0.06972	-1.0797	10	0.49607	T	0.09	.	2.4986	0.04628	0.1119:0.1948:0.5167:0.1765	.	905;905	Q08174;Q08174-2	PCDH1_HUMAN;.	V	905;905;893;916;883	ENSP00000287008:A905V;ENSP00000378043:A905V;ENSP00000403497:A893V;ENSP00000350122:A916V;ENSP00000438825:A883V	ENSP00000287008:A905V	A	-	2	0	PCDH1	141223366	0.876000	0.30132	1.000000	0.80357	0.988000	0.76386	1.925000	0.40074	1.179000	0.42884	0.457000	0.33378	GCC		TCGA-IB-7651-01A-11D-2154-08	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	0	0	1	169	671	0	126	1	1	372	482	0	126	2		0	0	0	0	0	2	1	1	168	657	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH1	5097	broad.mit.edu	37	5	141248692	141248692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141248692G>A	ENST00000394536.3	-	2	484	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH1_ENST00000503492.1_Silent_p.I115I|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000456271.1_Silent_p.I115I|PCDH1_ENST00000287008.3_Silent_p.I115I|PCDH1_ENST00000536585.1_Silent_p.I93I	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1			51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCTCACGGTCGATGGAGGTCT	0.572000													Ovarian(132;1609 1739 4190 14731 45037)											0							SO:0001819	synonymous_variant			ENST00000394536.3	1	1	hg19	CCDS43375.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	1	0	1	40	204	0	58	1	1	189	275	0	58	2		0	0	0	0	0	2	1	1	40	198	0	58	2								-3.260414	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
KIAA0141	9812	broad.mit.edu	37	5	141304986	141304986	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141304986A>G	ENST00000432126.2	+	3	292	c.158A>G	c.(157-159)cAt>cGt	p.H53R	KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141			16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCAGGTCCCCATGGCCCAGGC	0.557000																								0							SO:0001583	missense			ENST00000432126.2	1	1	hg19	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378680	0.42207	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18338	2.71;2.71;2.22	4.85	-0.695	0.11291	.	0.672812	0.13581	N	0.377363	T	0.14700	0.0355	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.62326	D	0.03	-0.4811	3.2757	0.06897	0.5377:0.0:0.2902:0.1721	.	53	Q14154	DELE_HUMAN	R	53	ENSP00000396225:H53R;ENSP00000194118:H53R;ENSP00000422686:H53R	ENSP00000194118:H53R	H	+	2	0	KIAA0141	141285170	0.001000	0.12720	0.160000	0.22671	0.498000	0.33706	0.678000	0.25277	-0.030000	0.13804	0.374000	0.22700	CAT		TCGA-IB-7651-01A-11D-2154-08	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	1	0	1	59	281	0	55	1	1	30	129	0	55	2		0	0	0	0	0	2	1	1	59	276	0	54	2								-20.000000	1	1	121396	2	35	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0141	9812	broad.mit.edu	37	5	141312861	141312861	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141312861C>T	ENST00000432126.2	+	8	926	c.792C>T	c.(790-792)gcC>gcT	p.A264A	KIAA0141_ENST00000194118.4_Silent_p.A264A|KIAA0141_ENST00000506775.1_3'UTR	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141			16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACACGGCAGCCTTTTCTTACT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000432126.2	1	1	hg19	CCDS4268.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	1	0	1	68	312	0	74	1	1	29	117	0	74	2		0	0	0	0	0	2	1	1	67	306	0	73	2								-3.298665	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH12	51294	broad.mit.edu	37	5	141334893	141334893	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141334893G>T	ENST00000231484.3	-	1	3734	c.2524C>A	c.(2524-2526)Ctg>Atg	p.L842M	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12			38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GTGTCTTGCAGCACCTCTCGG	0.652000																								0							SO:0001583	missense			ENST00000231484.3	1	1	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662690	0.47572	.	.	ENSG00000113555	ENST00000231484	T	0.55588	0.51	5.07	3.14	0.36123	.	0.316056	0.26065	N	0.026552	T	0.58694	0.2140	L	0.60455	1.87	0.29589	N	0.848538	D	0.67145	0.996	P	0.59703	0.862	T	0.55970	-0.8056	10	0.54805	T	0.06	.	6.1411	0.20261	0.2281:0.0:0.7719:0.0	.	842	Q9NPG4	PCD12_HUMAN	M	842	ENSP00000231484:L842M	ENSP00000231484:L842M	L	-	1	2	PCDH12	141315077	0.998000	0.40836	0.933000	0.37362	0.209000	0.24338	3.312000	0.51927	1.381000	0.46364	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	1	61	340	0	81	0	9.082905e-01	0	25	0	81	2		0	0	0	0	0	2	1	1	61	335	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH12	51294	broad.mit.edu	37	5	141335130	141335130	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335130G>A	ENST00000231484.3	-	1	3497	c.2287C>T	c.(2287-2289)Ccc>Tcc	p.P763S	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12			38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGCCTCTTGGGCTGCTGGCGG	0.587000																								0							SO:0001583	missense			ENST00000231484.3	1	1	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892165	0.72524	.	.	ENSG00000113555	ENST00000231484	T	0.52983	0.64	4.9	4.9	0.64082	.	0.062472	0.64402	D	0.000004	T	0.65842	0.2730	M	0.73962	2.25	0.50813	D	0.999894	D	0.69078	0.997	D	0.64042	0.921	T	0.66073	-0.6014	10	0.41790	T	0.15	.	15.6181	0.76784	0.0:0.0:1.0:0.0	.	763	Q9NPG4	PCD12_HUMAN	S	763	ENSP00000231484:P763S	ENSP00000231484:P763S	P	-	1	0	PCDH12	141315314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.263000	0.95617	2.571000	0.86741	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	1	51	250	0	54	0	8.539238e-01	0	19	0	54	2		0	0	0	0	0	2	1	1	50	243	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH12	51294	broad.mit.edu	37	5	141335291	141335291	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335291G>T	ENST00000231484.3	-	1	3336	c.2126C>A	c.(2125-2127)cCt>cAt	p.P709H	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12			38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CAAGGCCCCAGGCTTGCGGGC	0.587000																								0							SO:0001583	missense			ENST00000231484.3	0	1	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	1.156	-0.645319	0.03531	.	.	ENSG00000113555	ENST00000231484	T	0.56275	0.47	5.3	3.47	0.39725	Cadherin (1);	0.379762	0.27677	N	0.018320	T	0.50343	0.1610	M	0.67953	2.075	0.09310	N	1	P	0.52842	0.956	B	0.43916	0.436	T	0.50110	-0.8866	10	0.72032	D	0.01	.	8.0716	0.30693	0.0838:0.0:0.7579:0.1584	.	709	Q9NPG4	PCD12_HUMAN	H	709	ENSP00000231484:P709H	ENSP00000231484:P709H	P	-	2	0	PCDH12	141315475	0.210000	0.23517	0.010000	0.14722	0.152000	0.21847	3.035000	0.49759	0.776000	0.33473	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	0	0	0	6	134	0	37	0	3.937296e-01	0	28	0	37	2		0	0	0	0	0	2	1	9.652535e-01	6	133	0	36	2								-9.751586	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.550000	0.230000	1.000000	1.000000	0.593072	0.550000	0	3.600000e-01	8.500000e-01
PCDH12	51294	broad.mit.edu	37	5	141336470	141336470	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141336470G>T	ENST00000231484.3	-	1	2157	c.947C>A	c.(946-948)cCt>cAt	p.P316H	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12			38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTCGTAGGCAGGGTTCTTTTC	0.512000																								0							SO:0001583	missense			ENST00000231484.3	1	1	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	6.756	0.508335	0.12883	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.415449	0.27100	N	0.020930	T	0.46619	0.1402	L	0.37697	1.125	0.19945	N	0.99994	B	0.18610	0.029	B	0.18263	0.021	T	0.32877	-0.9890	10	0.39692	T	0.17	.	11.2965	0.49282	0.0:0.0:0.8184:0.1816	.	316	Q9NPG4	PCD12_HUMAN	H	316	ENSP00000231484:P316H	ENSP00000231484:P316H	P	-	2	0	PCDH12	141316654	0.132000	0.22450	0.993000	0.49108	0.774000	0.43823	2.647000	0.46639	2.731000	0.93534	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	0	16	322	0	55	0	4.872809e-01	0	33	0	55	2		0	0	0	0	0	2	1	9.999231e-01	16	313	0	55	2								-2.729436	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.580000	0.340000	1.000000	0.560000	0.614508	0.580000	0	4.400000e-01	7.700000e-01
PCDH12	51294	broad.mit.edu	37	5	141337392	141337392	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141337392G>T	ENST00000231484.3	-	1	1235	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12			38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AAAAGCCCCAGCAGAAGTTGC	0.498000																								0							SO:0001583	missense			ENST00000231484.3	1	1	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817293	0.50633	.	.	ENSG00000113555	ENST00000231484;ENST00000510041	T	0.55588	0.51	4.72	3.83	0.44106	.	0.089843	0.46758	D	0.000273	T	0.63307	0.2500	L	0.54323	1.7	0.30373	N	0.782712	D	0.76494	0.999	D	0.68765	0.96	T	0.61322	-0.7086	10	0.46703	T	0.11	.	10.9922	0.47555	0.0943:0.0:0.9057:0.0	.	9	Q9NPG4	PCD12_HUMAN	M	9	ENSP00000231484:L9M	ENSP00000231484:L9M	L	-	1	2	PCDH12	141317576	0.526000	0.26298	1.000000	0.80357	0.956000	0.61745	0.819000	0.27308	2.465000	0.83290	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	0	0	0	15	536	0	113	0	1.153836e-01	0	20	0	113	2		0	0	0	0	0	2	1	9.998627e-01	15	530	0	111	2								-3.246943	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.330000	0.190000	1.000000	0.320000	0.388078	0.330000	0	2.500000e-01	4.500000e-01
GNPDA1	10007	broad.mit.edu	37	5	141384546	141384546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384546G>A	ENST00000508177.1	-	4	1303	c.545C>T	c.(544-546)cCc>cTc	p.P182L	GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000513454.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L|GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1			6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGCCATGGTGGGCACCTTGGT	0.587000																								0							SO:0001583	missense			ENST00000508177.1	1	1	hg19	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395760	0.96009	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000505689	T;T;T;T;T;T;T;T	0.81247	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-1.47;-0.86	5.84	5.84	0.93424	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95723	0.8768	10	0.87932	D	0	-14.6887	20.1187	0.97949	0.0:0.0:1.0:0.0	.	148;182	E7EVU7;P46926	.;GNPI1_HUMAN	L	182;182;148;182;182;182;105;203	ENSP00000423494:P182L;ENSP00000311876:P182L;ENSP00000387718:P148L;ENSP00000424275:P182L;ENSP00000423674:P182L;ENSP00000423485:P182L;ENSP00000445143:P105L;ENSP00000421524:P203L	ENSP00000311876:P182L	P	-	2	0	GNPDA1	141364730	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.767000	0.95098	0.591000	0.81541	CCC		TCGA-IB-7651-01A-11D-2154-08	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	1	0	1	16	90	0	23	1	9.999998e-01	32	157	0	23	2		0	0	0	0	0	2	1	9.999541e-01	16	89	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.998748	0.990000	1	9.900000e-01	1
GNPDA1	10007	broad.mit.edu	37	5	141384657	141384657	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384657G>A	ENST00000508177.1	-	4	1192	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1			6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTCGTTGAAGGCAATGTGTCC	0.562000																								0							SO:0001583	missense			ENST00000508177.1	1	1	hg19	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492421	0.96339	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194	T;T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.84	4.97	0.65823	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	H	0.97659	4.05	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.69307	0.831;0.963	D	0.89652	0.3870	10	0.87932	D	0	-15.799	14.9374	0.70967	0.0688:0.0:0.9312:0.0	.	111;145	E7EVU7;P46926	.;GNPI1_HUMAN	V	145;145;111;145;145;145;145;166;145	ENSP00000423494:A145V;ENSP00000311876:A145V;ENSP00000387718:A111V;ENSP00000424275:A145V;ENSP00000423674:A145V;ENSP00000423485:A145V;ENSP00000424625:A145V;ENSP00000421524:A166V;ENSP00000424537:A145V	ENSP00000311876:A145V	A	-	2	0	GNPDA1	141364841	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.476000	0.97823	1.477000	0.48234	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	1	0	1	28	91	0	22	1	1	47	140	0	22	2		0	0	0	0	0	2	1	1	28	89	0	22	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNPDA1	10007	broad.mit.edu	37	5	141384674	141384674	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384674G>A	ENST00000508177.1	-	4	1175	c.417C>T	c.(415-417)ggC>ggT	p.G139G	GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000513454.1_Silent_p.G139G|GNPDA1_ENST00000500692.2_Silent_p.G139G|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000311337.6_Silent_p.G139G			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1			6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GTCCATCAGGGCCGATGCCTA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000508177.1	0	1	hg19	CCDS4272.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	1	0	1	18	101	0	21	1	9.999998e-01	24	153	0	21	2		0	0	0	0	0	2	1	9.999883e-01	18	100	0	21	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999226	0.990000	1	9.900000e-01	1
SLC6A3	6531	broad.mit.edu	37	5	1414875	1414875	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1414875C>T	ENST00000270349.9	-	8	1214	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3			38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)	Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GAGAAGACGACGAAGCCGGAG	0.612000																								0							SO:0001583	missense			ENST00000270349.9	1	1	hg19	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443100	0.96187	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75589	-0.95;-0.95	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.71206	2.165	0.58432	D	0.999999	D	0.63880	0.993	P	0.59595	0.86	D	0.85050	0.0928	10	0.72032	D	0.01	.	13.8206	0.63318	0.0:1.0:0.0:0.0	.	363	Q01959	SC6A3_HUMAN	I	363	ENSP00000270349:V363I;ENSP00000399806:V363I	ENSP00000270349:V363I	V	-	1	0	SLC6A3	1467875	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	7.116000	0.77119	1.837000	0.53436	0.555000	0.69702	GTC		TCGA-IB-7651-01A-11D-2154-08	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	1	0	1	53	274	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	52	267	0	70	2								-3.241771	1	1	121350	1	34	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDFIP1	80762	broad.mit.edu	37	5	141511891	141511891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141511891C>A	ENST00000253814.4	+	3	736	c.266C>A	c.(265-267)cCt>cAt	p.P89H	NDFIP1_ENST00000509436.1_Intron	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1			5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCTACTATCCCTTTGGTTCCT	0.423000																								0							SO:0001583	missense			ENST00000253814.4	1	1	hg19	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858703	0.91433	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.53	5.53	0.82687	.	0.100365	0.64402	D	0.000001	T	0.79913	0.4528	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80944	-0.1156	9	0.87932	D	0	-15.0688	19.8208	0.96592	0.0:1.0:0.0:0.0	.	89	Q9BT67	NFIP1_HUMAN	H	89	.	ENSP00000253814:P89H	P	+	2	0	NDFIP1	141492075	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.338000	0.79269	2.771000	0.95319	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	1	0	1	118	398	0	122	1	1	207	499	0	122	2		0	0	0	0	0	2	1	1	116	389	0	121	2								-3.858018	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDFIP1	80762	broad.mit.edu	37	5	141524156	141524156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141524156G>T	ENST00000253814.4	+	7	1053	c.583G>T	c.(583-585)Gga>Tga	p.G195*		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1			5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GTTTCTCAGAGGATTTATCAA	0.343000																								0							SO:0001587	stop_gained			ENST00000253814.4	0	1	hg19	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	G	42	9.550999	0.99202	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1228	19.5914	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000253814:G195X	G	+	1	0	NDFIP1	141504340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.708000	0.92522	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	1	0	1	134	655	0	134	1	1	24	603	0	134	2		0	0	0	0	0	2	1	1	132	643	0	132	2								-3.150098	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR3C1	2908	broad.mit.edu	37	5	142675037	142675037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142675037G>T	ENST00000343796.2	-	7	3004	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I|NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)			35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GAAGAGAGAAGCAGTAAGGTT	0.363000																								0							SO:0001583	missense			ENST00000343796.2	1	1	hg19	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091873	0.94149	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;T;D;D;D;D;D;D	0.97303	-4.33;-4.33;-0.01;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.86097	2.795	0.80722	D	1	D;P;D	0.76494	0.998;0.835;0.999	D;P;D	0.97110	1.0;0.891;0.998	D	0.99513	1.0956	10	0.87932	D	0	.	19.6697	0.95907	0.0:0.0:1.0:0.0	.	671;671;672	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	I	671;671;671;645;672;672;672;274;671	ENSP00000377977:L671I;ENSP00000343205:L671I;ENSP00000387672:L671I;ENSP00000405282:L645I;ENSP00000422518:L672I;ENSP00000377979:L672I;ENSP00000231509:L672I;ENSP00000404218:L274I;ENSP00000427672:L671I	ENSP00000231509:L672I	L	-	1	0	NR3C1	142655230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.649000	0.89929	0.585000	0.79938	CTT		TCGA-IB-7651-01A-11D-2154-08	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1	1	0	1	53	215	0	49	1	9.999950e-01	11	66	0	49	2		0	0	0	0	0	2	1	1	52	213	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR3C1	2908	broad.mit.edu	37	5	142693707	142693707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142693707G>T	ENST00000343796.2	-	3	2204	c.1211C>A	c.(1210-1212)tCt>tAt	p.S404Y	NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)			35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GGATGGAGGAGAGCTTACATC	0.448000																								0							SO:0001583	missense			ENST00000343796.2	1	1	hg19	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456715	0.84317	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.86230	-1.68;-1.68;-1.63;-1.73;-1.68;-1.68;-1.68;-2.09;-1.68	5.72	5.72	0.89469	.	0.119693	0.64402	D	0.000013	D	0.91835	0.7416	L	0.48877	1.53	0.46336	D	0.998995	D;D;D	0.71674	0.994;0.998;0.993	P;D;P	0.78314	0.825;0.991;0.866	D	0.91925	0.5550	10	0.66056	D	0.02	.	19.8658	0.96803	0.0:0.0:1.0:0.0	.	404;404;404	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	Y	404;404;404;404;378;404;404;404;7;404	ENSP00000377977:S404Y;ENSP00000343205:S404Y;ENSP00000387672:S404Y;ENSP00000405282:S378Y;ENSP00000422518:S404Y;ENSP00000377979:S404Y;ENSP00000231509:S404Y;ENSP00000404218:S7Y;ENSP00000427672:S404Y	ENSP00000231509:S404Y	S	-	2	0	NR3C1	142673900	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.363000	0.73082	2.696000	0.92011	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1	1	0	1	39	159	0	36	1	9.999999e-01	10	99	0	36	2		0	0	0	0	0	2	1	1	37	156	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIO	7204	broad.mit.edu	37	5	14336699	14336699	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336699A>G	ENST00000344204.4	+	11	1933	c.1909A>G	c.(1909-1911)Act>Gct	p.T637A	TRIO_ENST00000509967.2_Missense_Mutation_p.T588A|TRIO_ENST00000537187.1_Missense_Mutation_p.T637A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor			118	Lung NSC(4;0.000742)				GCTGGCTCAGACTGGGGAATG	0.483000																								0							SO:0001583	missense			ENST00000344204.4	1	1	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717746	0.68844	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.44083	1.03;1.03;0.93	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	L	0.35593	1.075	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.992	D;D;D	0.79784	0.983;0.993;0.989	T	0.56944	-0.7895	10	0.62326	D	0.03	.	15.0232	0.71647	1.0:0.0:0.0:0.0	.	588;637;637	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	637;637;588;324	ENSP00000339299:T637A;ENSP00000446348:T637A;ENSP00000445592:T588A	ENSP00000339299:T637A	T	+	1	0	TRIO	14389699	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.339000	0.96797	1.946000	0.56461	0.454000	0.30748	ACT		TCGA-IB-7651-01A-11D-2154-08	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	0	0	1	66	264	1	83	0	9.658437e-01	0	40	1	83	4		0	0	0	0	0	2	1	1	66	258	1	82	14								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIO	7204	broad.mit.edu	37	5	14336786	14336786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336786C>T	ENST00000344204.4	+	11	2020	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor			118	Lung NSC(4;0.000742)				TGTTGAGCAGCGAAAGATCCT	0.498000																								0							SO:0001587	stop_gained			ENST00000344204.4	0	1	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	40	8.039053	0.98624	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.46	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4675	0.61263	0.303:0.697:0.0:0.0	.	.	.	.	X	666;666;617;353	.	ENSP00000339299:R666X	R	+	1	2	TRIO	14389786	1.000000	0.71417	0.775000	0.31657	0.959000	0.62525	3.196000	0.51020	1.211000	0.43351	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	1	39	231	0	54	1	9.763445e-01	5	33	0	54	2		0	0	0	0	0	2	1	1	37	228	0	54	2								-18.841240	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
TRIO	7204	broad.mit.edu	37	5	14369491	14369491	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14369491C>T	ENST00000344204.4	+	18	3099	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	TRIO_ENST00000509967.2_Silent_p.S976S|TRIO_ENST00000537187.1_Silent_p.S1025S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor			118	Lung NSC(4;0.000742)				AGGTCTGCAGCGTCCTCGAGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000344204.4	1	1	hg19	CCDS3883.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	1	51	290	0	63	1	9.980171e-01	3	53	0	63	2		0	0	0	0	0	2	1	1	50	286	0	63	2								-19.999970	1	1	121410	1	32	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TRIO	7204	broad.mit.edu	37	5	14387901	14387901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14387901C>T	ENST00000344204.4	+	23	3850	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor			118	Lung NSC(4;0.000742)				GGTGAAACTTCGAGATGCTGC	0.433000																								0							SO:0001587	stop_gained			ENST00000344204.4	0	1	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	43	10.396506	0.99397	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9732	0.97292	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1276;1227;963	.	ENSP00000339299:R1276X	R	+	1	2	TRIO	14440901	0.999000	0.42202	0.947000	0.38551	0.998000	0.95712	2.755000	0.47540	2.740000	0.93945	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	1	49	180	0	63	1	9.998769e-01	4	49	0	63	2		0	0	0	0	0	2	1	1	49	175	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIO	7204	broad.mit.edu	37	5	14406776	14406776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14406776G>A	ENST00000344204.4	+	33	4978	c.4954G>A	c.(4954-4956)Gat>Aat	p.D1652N	TRIO_ENST00000537187.1_Missense_Mutation_p.D1652N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor			118	Lung NSC(4;0.000742)				GCTGGACAGCGATAAGGTGAG	0.572000																								0							SO:0001583	missense			ENST00000344204.4	1	1	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320191	0.81469	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.13657	2.57;2.57	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	M	0.68952	2.095	0.80722	D	1	P;D	0.76494	0.625;0.999	B;D	0.75020	0.194;0.985	T	0.06516	-1.0822	10	0.59425	D	0.04	.	19.3513	0.94387	0.0:0.0:1.0:0.0	.	1652;1652	O75962-5;O75962	.;TRIO_HUMAN	N	1652;1652;1339	ENSP00000339299:D1652N;ENSP00000446348:D1652N	ENSP00000339299:D1652N	D	+	1	0	TRIO	14459776	1.000000	0.71417	0.403000	0.26384	0.736000	0.42039	9.826000	0.99387	2.571000	0.86741	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	0	0	0	91	294	0	72	1	9.996683e-01	9	32	0	72	2		0	0	0	0	0	2	1	1	87	288	0	72	2								-20.000000	1	1	121412	1	30	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIO	7204	broad.mit.edu	37	5	14482807	14482807	+	Silent	SNP	C	C	T	rs139448086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14482807C>T	ENST00000344204.4	+	46	6606	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_ENST00000537187.1_Silent_p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor			118	Lung NSC(4;0.000742)				TTGAGCAGATCGTCATATTCA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000344204.4	1	1	hg19	CCDS3883.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	1	99	501	0	102	1	9.999973e-01	5	88	0	102	2		0	0	0	0	0	2	1	1	98	494	0	99	2								-20.000000	1	1	121412	5	40	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIO	7204	broad.mit.edu	37	5	14485348	14485348	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485348T>G	ENST00000344204.4	+	47	6852	c.6828T>G	c.(6826-6828)ttT>ttG	p.F2276L	TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor			118	Lung NSC(4;0.000742)				AGCGCAATTTTTTAAATGGTA	0.383000																								0							SO:0001583	missense			ENST00000344204.4	1	1	hg19	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199716	0.58126	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.39229	1.09;1.09	5.34	5.34	0.76211	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.64080	1.96	0.47374	D	0.999408	D;D	0.64830	0.994;0.992	P;D	0.69654	0.855;0.965	T	0.52540	-0.8562	10	0.11794	T	0.64	.	11.2948	0.49272	0.0:0.073:0.0:0.927	.	2276;2276	O75962-5;O75962	.;TRIO_HUMAN	L	2276;2276;1963	ENSP00000339299:F2276L;ENSP00000446348:F2276L	ENSP00000339299:F2276L	F	+	3	2	TRIO	14538348	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	2.046000	0.41260	2.023000	0.59567	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	1	0	1	81	323	0	86	0	1	1	102	0	86	2		0	0	0	0	0	2	1	1	81	315	0	85	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3RF2	153769	broad.mit.edu	37	5	145393591	145393591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145393591G>A	ENST00000511217.1	+	4	1078	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	SH3RF2_ENST00000359120.4_Silent_p.E342E			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2			22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		AGCCCATGGAGAAAGCAGACG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000511217.1	1	1	hg19	CCDS4280.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	1	0	1	101	488	0	143	1	9.415683e-01	14	11	0	143	2		0	0	0	0	0	2	1	1	100	484	0	142	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARS	51520	broad.mit.edu	37	5	145509704	145509704	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145509704G>A	ENST00000394434.2	-	25	2671	c.2505C>T	c.(2503-2505)taC>taT	p.Y835Y	LARS_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000274562.9_Silent_p.Y808Y|LARS_ENST00000545646.1_Silent_p.Y789Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase			34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	L-Leucine(DB00149)	CCAATTCACGGTACTTATCTT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000394434.2	1	1	hg19	CCDS34265.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	1	0	1	61	356	0	78	1	1	33	134	0	78	2		0	0	0	0	0	2	1	1	61	352	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM27	54439	broad.mit.edu	37	5	145651170	145651170	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145651170G>A	ENST00000265271.5	+	19	3087	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H	RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27			39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GTGGACCATCGTCCCAAAGCA	0.468000																								0							SO:0001583	missense			ENST00000265271.5	1	1	hg19	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228901	0.95173	.	.	ENSG00000091009	ENST00000265271	D	0.83075	-1.68	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.92034	0.7476	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.93196	0.6587	10	0.87932	D	0	-6.646	18.7687	0.91882	0.0:0.0:1.0:0.0	.	974	Q9P2N5	RBM27_HUMAN	H	974	ENSP00000265271:R974H	ENSP00000265271:R974H	R	+	2	0	RBM27	145631363	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.005000	0.93587	2.517000	0.84864	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	1	0	1	58	297	0	62	1	9.999993e-01	29	80	0	62	2		0	0	0	0	0	2	1	1	56	295	0	61	2								-3.095139	1	1	120420	1	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POU4F3	5459	broad.mit.edu	37	5	145719317	145719317	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145719317C>T	ENST00000230732.4	+	2	416	c.327C>T	c.(325-327)caC>caT	p.H109H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3			17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		ACCCTCACCACGCCGTGCACC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000230732.4	0	1	hg19	CCDS4281.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	0	0	0	8	423	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	9.891037e-01	8	419	0	89	2								-7.598997	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.230000	0.100000	1.000000	0.220000	0.298733	0.230000	0	1.600000e-01	3.500000e-01
TCERG1	10915	broad.mit.edu	37	5	145838663	145838663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838663G>A	ENST00000296702.5	+	4	693	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1			46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		ccaggcccaggcccaggccca	0.726000																								0							SO:0001583	missense			ENST00000296702.5	1	1	hg19	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	1.840	-0.467777	0.04476	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35605	1.3;1.3	3.14	3.14	0.36123	.	0.000000	0.48767	D	0.000167	T	0.20577	0.0495	N	0.19112	0.55	0.26706	N	0.971071	B;B;B	0.21225	0.053;0.007;0.004	B;B;B	0.10450	0.005;0.002;0.001	T	0.12708	-1.0537	10	0.11794	T	0.64	-1.3402	12.081	0.53671	0.0:0.0:1.0:0.0	.	219;219;219	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	T	219	ENSP00000296702:A219T;ENSP00000377943:A219T	ENSP00000296702:A219T	A	+	1	0	TCERG1	145818856	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	2.966000	0.49208	1.721000	0.51461	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	0	49	227	0	39	1	8.030259e-01	13	3	0	39	2		0	0	0	0	0	2	1	1	49	223	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCERG1	10915	broad.mit.edu	37	5	145838887	145838887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838887G>A	ENST00000296702.5	+	4	917	c.879G>A	c.(877-879)gcG>gcA	p.A293A	TCERG1_ENST00000394421.2_Silent_p.A293A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1			46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTTCAGTTGCGCAGACAGTAT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000296702.5	1	1	hg19	CCDS4282.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1	125	531	1	159	1	9.999428e-01	4	80	1	159	4		0	0	0	0	0	2	1	1	124	520	1	158	15								-20.000000	1	1	121412	1	35	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCERG1	10915	broad.mit.edu	37	5	145843122	145843122	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145843122A>G	ENST00000296702.5	+	5	939	c.901A>G	c.(901-903)Aca>Gca	p.T301A	TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1			46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		AGCACCCACAACACAAGATCA	0.388000																								0							SO:0001583	missense			ENST00000296702.5	1	1	hg19	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196428	0.38806	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.28895	1.59;1.59	5.39	5.39	0.77823	.	0.158654	0.47093	D	0.000244	T	0.18257	0.0438	L	0.27053	0.805	0.33838	D	0.631074	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.19353	-1.0308	10	0.07325	T	0.83	-7.9798	9.8517	0.41061	0.9233:0.0:0.0767:0.0	.	301;301;301	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	A	301	ENSP00000296702:T301A;ENSP00000377943:T301A	ENSP00000296702:T301A	T	+	1	0	TCERG1	145823315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.185000	0.58330	2.027000	0.59764	0.460000	0.39030	ACA		TCGA-IB-7651-01A-11D-2154-08	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1	147	803	0	173	1	9.999801e-01	9	75	0	173	2		0	0	0	0	0	2	1	1	147	779	0	171	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCERG1	10915	broad.mit.edu	37	5	145849225	145849225	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849225A>C	ENST00000296702.5	+	7	1355	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1			46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTGAATATAAAACAGCAGATG	0.393000																								0							SO:0001583	missense			ENST00000296702.5	1	1	hg19	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047626	0.55110	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.82526	-1.62;-1.62	5.71	2.04	0.26737	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.62209	1.925	0.54753	D	0.99998	D;D;D	0.76494	0.999;0.989;0.991	D;D;D	0.85130	0.997;0.978;0.987	D	0.85526	0.1206	10	0.72032	D	0.01	-21.9365	9.2165	0.37351	0.7945:0.0:0.2055:0.0	.	418;418;439	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	439;418	ENSP00000296702:K439N;ENSP00000377943:K418N	ENSP00000296702:K439N	K	+	3	2	TCERG1	145829418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.265000	0.33027	0.119000	0.18210	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1	196	842	0	192	1	9.999807e-01	29	38	0	192	2		0	0	0	0	0	2	1	1	194	823	0	190	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCERG1	10915	broad.mit.edu	37	5	145849232	145849232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849232G>A	ENST00000296702.5	+	7	1362	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1			46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		TAAAACAGCAGATGGGAAGAC	0.383000																								0							SO:0001583	missense			ENST00000296702.5	1	1	hg19	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795679	0.90453	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.83506	-1.73;-1.73	5.71	5.71	0.89125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	L	0.48877	1.53	0.80722	D	1	D;D;D	0.59767	0.986;0.965;0.972	P;P;P	0.61800	0.894;0.558;0.685	D	0.87553	0.2466	10	0.52906	T	0.07	-21.2535	19.8493	0.96733	0.0:0.0:1.0:0.0	.	421;421;442	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	N	442;421	ENSP00000296702:D442N;ENSP00000377943:D421N	ENSP00000296702:D442N	D	+	1	0	TCERG1	145829425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1	199	778	0	186	1	9.999783e-01	3	58	0	186	2		0	0	0	0	0	2	1	1	193	765	0	184	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCERG1	10915	broad.mit.edu	37	5	145878172	145878172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145878172C>T	ENST00000296702.5	+	16	2343	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1			46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GATGAAAGACCGAGAAGCCTT	0.393000																								0							SO:0001587	stop_gained			ENST00000296702.5	0	1	hg19	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	38	7.176446	0.98114	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.51	1.38	0.22167	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5545	15.1655	0.72821	0.4949:0.5051:0.0:0.0	.	.	.	.	X	769;748	.	ENSP00000296702:R769X	R	+	1	2	TCERG1	145858365	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.224000	0.32539	0.017000	0.15025	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1	41	159	0	58	1	1	10	115	0	58	2		0	0	0	0	0	2	1	1	41	156	0	58	2								-2.993439	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR151	134391	broad.mit.edu	37	5	145895387	145895387	+	Missense_Mutation	SNP	G	G	A	rs145255868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145895387G>A	ENST00000311104.2	-	1	366	c.290C>T	c.(289-291)aCg>aTg	p.T97M		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151			14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GGAGTACGCCGTAGCTCGGAT	0.502000													Pancreas(78;420 1386 18535 37114 49710)											0							SO:0001583	missense			ENST00000311104.2	1	1	hg19	CCDS34266.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.28	1.592329	0.28357	0.001816	0.0	ENSG00000173250	ENST00000311104	T	0.72835	-0.69	5.88	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.173248	0.49305	D	0.000160	T	0.63414	0.2509	L	0.43152	1.355	0.28914	N	0.892557	P	0.48694	0.914	P	0.44732	0.459	T	0.60342	-0.7282	10	0.56958	D	0.05	.	9.0746	0.36513	0.2537:0.0:0.7463:0.0	.	97	Q8TDV0	GP151_HUMAN	M	97	ENSP00000308733:T97M	ENSP00000308733:T97M	T	-	2	0	GPR151	145875580	0.989000	0.36119	0.829000	0.32907	0.275000	0.26752	2.436000	0.44819	0.349000	0.23975	-0.140000	0.14226	ACG		TCGA-IB-7651-01A-11D-2154-08	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	1	0	1	72	285	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	71	276	0	78	2								-3.231097	1	1	121412	27	48	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM105A	54491	broad.mit.edu	37	5	14601224	14601224	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14601224A>G	ENST00000274217.3	+	2	335	c.215A>G	c.(214-216)aAg>aGg	p.K72R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A			11	Lung NSC(4;0.00592)				TCAGGGCACAAGCTGAAATGG	0.393000																								0							SO:0001583	missense			ENST00000274217.3	1	1	hg19	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.694862	0.00731	.	.	ENSG00000145569	ENST00000274217	T	0.16743	2.32	5.35	-0.0825	0.13697	.	0.956413	0.08727	N	0.902566	T	0.04588	0.0125	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41734	-0.9492	10	0.07175	T	0.84	-3.3211	4.9693	0.14108	0.4692:0.0:0.384:0.1468	.	72	Q9NUU6	F105A_HUMAN	R	72	ENSP00000274217:K72R	ENSP00000274217:K72R	K	+	2	0	FAM105A	14654224	0.229000	0.23729	0.020000	0.16555	0.167000	0.22549	1.067000	0.30616	-0.256000	0.09473	-0.408000	0.06270	AAG		TCGA-IB-7651-01A-11D-2154-08	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	1	0	1	117	629	0	163	1	9.999941e-01	2	90	0	163	2		0	0	0	0	0	2	1	1	112	612	0	158	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK32A	202374	broad.mit.edu	37	5	146703542	146703542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146703542G>A	ENST00000397936.3	+	5	675	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000541094.1_Silent_p.Q114Q|STK32A_ENST00000398523.3_Silent_p.Q114Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A			13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACCTGCAACAGAACGTCCACT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000397936.3	1	1	hg19	CCDS47299.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	1	0	1	11	118	0	33	1	6.752393e-01	11	15	0	33	2		0	0	0	0	0	2	1	9.985739e-01	11	118	0	33	2								-16.515800	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.550000	1.000000	1.000000	0.916674	0.990000	1	7.700000e-01	1
FAM105B	0	broad.mit.edu	37	5	14692988	14692988	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14692988C>A	ENST00000284274.4	+	7	968	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN				14	Lung NSC(4;0.00696)				CTTGCCTATGCTGTGCGCCAC	0.507000																								0							SO:0001583	missense			ENST00000284274.4	1	1	hg19	CCDS43302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.366881|5.366881	0.95900|0.95900	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000284274|ENST00000506417	T|.	0.19669|.	2.13|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.052923|.	0.85682|.	D|.	0.000000|.	T|.	0.76183|.	0.3952|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	T|.	0.74340|.	-0.3697|.	10|.	0.72032|.	D|.	0.01|.	-15.212|-15.212	18.8787|18.8787	0.92349|0.92349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	297|.	Q96BN8|.	F105B_HUMAN|.	D|X	297|28	ENSP00000284274:A297D|.	ENSP00000284274:A297D|.	A|C	+|+	2|3	0|2	FAM105B|FAM105B	14745988|14745988	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.976000|0.976000	0.68499|0.68499	7.488000|7.488000	0.81441|0.81441	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GCT|TGC		TCGA-IB-7651-01A-11D-2154-08	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1	0	0	0	14	466	0	112	1	3.615402e-01	4	37	0	112	2		0	0	0	0	0	2	1	9.997227e-01	14	457	0	111	2								-2.978485	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.340000	0.190000	0.540000	0.330000	0.356498	0.340000	0	2.600000e-01	4.400000e-01
JAKMIP2	9832	broad.mit.edu	37	5	146997591	146997591	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146997591C>A	ENST00000265272.5	-	19	2696	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2			64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCTCCTCTTGCTGTTTTTCAC	0.423000																								0							SO:0001583	missense			ENST00000265272.5	1	1	hg19	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567737	0.65651	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.27104	1.7;1.69;1.7	5.61	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.65498	2.005	0.50313	D	0.999864	P;P;P;P	0.47677	0.899;0.899;0.899;0.899	P;P;P;B	0.44990	0.466;0.466;0.466;0.371	T	0.06041	-1.0849	10	0.66056	D	0.02	.	8.6976	0.34305	0.0:0.5699:0.0:0.4301	.	701;743;722;743	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	H	722;743;701;722	ENSP00000421398:Q722H;ENSP00000265272:Q743H;ENSP00000328989:Q701H	ENSP00000265272:Q743H	Q	-	3	2	JAKMIP2	146977784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.161000	0.31773	0.415000	0.25817	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1	80	411	0	101	0	5.043436e-01	0	10	0	101	2		0	0	0	0	0	2	1	1	80	404	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAKMIP2	9832	broad.mit.edu	37	5	147024484	147024484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147024484C>T	ENST00000265272.5	-	6	1479	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2			64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATCAGTTCATCGTTTCTCTTG	0.433000																								0							SO:0001583	missense			ENST00000265272.5	1	1	hg19	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436271	0.96168	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.82711	-1.64;-1.64;-1.64	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	D	0.90640	0.4574	10	0.66056	D	0.02	.	19.7589	0.96306	0.0:1.0:0.0:0.0	.	296;338;338;338	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	N	338;338;296;338	ENSP00000421398:D338N;ENSP00000265272:D338N;ENSP00000328989:D296N	ENSP00000265272:D338N	D	-	1	0	JAKMIP2	147004677	1.000000	0.71417	0.967000	0.41034	0.951000	0.60555	7.412000	0.80091	2.746000	0.94184	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1	127	513	0	83	0	1.035519e-01	0	3	0	83	2		0	0	0	0	0	2	1	1	124	501	0	83	2								-3.502859	1	1	121412	1	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAKMIP2	9832	broad.mit.edu	37	5	147030054	147030054	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147030054C>T	ENST00000265272.5	-	4	1151	c.684G>A	c.(682-684)gaG>gaA	p.E228E	JAKMIP2_ENST00000507386.1_Silent_p.E228E|JAKMIP2_ENST00000333010.6_Silent_p.E186E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2			64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTGTCTGGGTCTCCAGTTCCT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000265272.5	1	1	hg19	CCDS4285.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1	65	301	0	52	0	8.572387e-02	0	3	0	52	2		0	0	0	0	0	2	1	1	63	295	0	52	2								-3.292987	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JAKMIP2	9832	broad.mit.edu	37	5	147040937	147040937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147040937C>T	ENST00000265272.5	-	3	668	c.201G>A	c.(199-201)acG>acA	p.T67T	JAKMIP2_ENST00000507386.1_Silent_p.T67T|JAKMIP2_ENST00000333010.6_Silent_p.T25T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2			64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCACCAGCACCGTGTGCTTGC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000265272.5	1	1	hg19	CCDS4285.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1	175	765	0	136	0	1.603921e-01	0	4	0	136	2		0	0	0	0	0	2	1	1	173	759	0	136	2								-2.593579	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPINK5	11005	broad.mit.edu	37	5	147486674	147486674	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147486674T>C	ENST00000256084.7	+	17	1596	c.1554T>C	c.(1552-1554)cgT>cgC	p.R518R	SPINK5_ENST00000359874.3_Silent_p.R518R|SPINK5_ENST00000398454.1_Silent_p.R518R	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5			64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ATCCTGTCCGTGGCCCAGATG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000256084.7	1	1	hg19	CCDS43382.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	0	0	1	134	495	0	120	1	2.910384e-01	2	3	0	120	2		0	0	0	0	0	2	1	1	132	486	0	118	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPINK5	11005	broad.mit.edu	37	5	147493998	147493998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147493998G>A	ENST00000256084.7	+	21	2003	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	SPINK5_ENST00000359874.3_Missense_Mutation_p.R654H|SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5			64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GATCCTGTGCGTGGCCCAGAT	0.453000																								0							SO:0001583	missense			ENST00000256084.7	1	1	hg19	CCDS43382.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.1	4.102952	0.76983	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.42	4.54	0.55810	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.304457	0.26450	N	0.024303	T	0.17280	0.0415	M	0.69823	2.125	0.28078	N	0.932309	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.01001	-1.1485	10	0.59425	D	0.04	-22.2517	9.4175	0.38530	0.0952:0.0:0.9048:0.0	.	635;654;654;654	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	654;654;635;654	ENSP00000381472:R654H;ENSP00000352936:R654H;ENSP00000421519:R635H;ENSP00000256084:R654H	ENSP00000256084:R654H	R	+	2	0	SPINK5	147474191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.543000	0.36147	2.703000	0.92315	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	1	0	1	50	215	0	60	1	1.683353e-01	3	1	0	60	2		0	0	0	0	0	2	1	1	51	211	0	59	2								-20.000000	1	1	120846	10	40	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPINK13	153218	broad.mit.edu	37	5	147649640	147649640	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147649640C>A	ENST00000512953.1	+	3	536	c.5C>A	c.(4-6)gCt>gAt	p.A2D	SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)			5					GATCAAATGGCTGCCTTTCCC	0.408000																								0							SO:0001583	missense			ENST00000512953.1	1	1	hg19	CCDS43383.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419487	0.62622	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	D;D	0.85773	-2.03;-2.03	3.99	3.99	0.46301	.	.	.	.	.	D	0.90109	0.6910	.	.	.	0.24203	N	0.9955	D	0.76494	0.999	D	0.65773	0.938	T	0.81335	-0.0979	8	0.62326	D	0.03	-0.8141	11.9878	0.53157	0.0:1.0:0.0:0.0	.	2	Q1W4C9	ISK13_HUMAN	D	2	ENSP00000421048:A2D;ENSP00000381468:A2D	ENSP00000381468:A2D	A	+	2	0	SPINK13	147629833	0.086000	0.21541	0.924000	0.36721	0.151000	0.21798	0.427000	0.21379	2.533000	0.85409	0.603000	0.83216	GCT		TCGA-IB-7651-01A-11D-2154-08	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373337.1	0	0	0	28	796	0	158	0	1.273602e-03	0	2	0	158	2		0	0	0	0	0	2	1	1	29	785	0	158	2								-3.737327	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.410000	0.270000	1.000000	0.400000	0.456475	0.410000	0	3.300000e-01	5.200000e-01
FBXO38	81545	broad.mit.edu	37	5	147781654	147781654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147781654G>A	ENST00000340253.5	+	4	540	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.E124E|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000394370.3_Silent_p.E124E			Q6PIJ6	FBX38_HUMAN	F-box protein 38		ATG4C/FBXO38(2)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGGGCCATGAGGCTTTTAGCA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000340253.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	1	0	1	98	484	0	140	1	9.994340e-01	15	41	0	140	2		0	0	0	0	0	2	1	1	96	478	0	140	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO38	81545	broad.mit.edu	37	5	147807242	147807242	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147807242A>G	ENST00000340253.5	+	15	2553	c.2385A>G	c.(2383-2385)gaA>gaG	p.E795E	CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000394370.3_Silent_p.E795E			Q6PIJ6	FBX38_HUMAN	F-box protein 38		ATG4C/FBXO38(2)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTGATGAGGAACGTCCTTCAA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000340253.5	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	0	0	0	6	236	0	49	0	5.044023e-01	0	62	0	49	2		0	0	0	0	0	2	1	9.617686e-01	6	229	0	49	2								-7.632312	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.320000	0.130000	1.000000	0.290000	0.382014	0.320000	0	2.100000e-01	5.000000e-01
FBXO38	81545	broad.mit.edu	37	5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38		ATG4C/FBXO38(2)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GAAGCCACTCGAAGTGAAGAA	0.353000																								0							SO:0001583	missense			ENST00000340253.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	34	5.354128	0.95830	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.39787	1.06;1.16;1.13;1.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.32530	0.975	0.32900	D	0.513013	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.947;0.994;0.996	T	0.61898	-0.6968	10	0.48119	T	0.1	-7.3358	18.2978	0.90153	0.0:0.0:1.0:0.0	.	825;995;1070	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	Q	1070;825;995;825	ENSP00000342023:R1070Q;ENSP00000296701:R825Q;ENSP00000377895:R995Q;ENSP00000426410:R825Q	ENSP00000296701:R825Q	R	+	2	0	FBXO38	147800218	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.423000	0.97461	2.670000	0.90874	0.467000	0.42956	CGA		TCGA-IB-7651-01A-11D-2154-08	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	1	0	1	58	246	0	74	1	9.999996e-01	18	78	0	74	2		0	0	0	0	0	2	1	1	55	243	0	73	2								-3.272958	1	1	121408	1	27	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR4	3360	broad.mit.edu	37	5	147845485	147845485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147845485G>A	ENST00000314512.6	-	7	1243	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521735.1_Silent_p.G360G	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled			21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CAGGGGAACAGCCACTTTTAG	0.428000													GBM(120;370 1604 14007 17804 41573)											0							SO:0001819	synonymous_variant			ENST00000314512.6	1	1	hg19	CCDS34271.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HTR4-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374235.1	1	0	1	143	747	0	205		0	0	0	0	205	2		0	0	0	0	0	2	1	1	137	726	0	204	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR4	3360	broad.mit.edu	37	5	147929756	147929756	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147929756C>A	ENST00000377888.3	-	3	234	c.96G>T	c.(94-96)atG>atT	p.M32I	HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000360693.3_Missense_Mutation_p.M32I|HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled			21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CCAAGATGGCCATCAGGATAA	0.537000													GBM(120;370 1604 14007 17804 41573)											0							SO:0001583	missense			ENST00000377888.3	1	1	hg19	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131491	0.77549	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.24115	0.695	0.52099	D	0.999943	P;B;P;B;P;P;P	0.44690	0.754;0.434;0.459;0.42;0.841;0.749;0.754	B;B;B;B;B;B;B	0.40825	0.184;0.13;0.269;0.312;0.228;0.341;0.184	T	0.05146	-1.0903	10	0.28530	T	0.3	.	17.7437	0.88414	0.0:1.0:0.0:0.0	.	32;32;32;32;32;32;32	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	I	32	ENSP00000428320:M32I;ENSP00000346156:M32I;ENSP00000314906:M32I;ENSP00000430979:M32I;ENSP00000435904:M32I;ENSP00000427913:M32I;ENSP00000367120:M32I;ENSP00000353915:M32I;ENSP00000355037:M32I	ENSP00000314906:M32I	M	-	3	0	HTR4	147909949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.888000	0.69758	2.538000	0.85594	0.555000	0.69702	ATG		TCGA-IB-7651-01A-11D-2154-08	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	1	0	1	55	230	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	54	216	0	65	2								-3.545161	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3TC2	79628	broad.mit.edu	37	5	148406207	148406207	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148406207A>C	ENST00000515425.1	-	12	3082	c.2981T>G	c.(2980-2982)cTc>cGc	p.L994R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L541R|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2			39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCGGTCCCTGAGTTGCTGAGC	0.582000																								0							SO:0001583	missense			ENST00000515425.1	1	1	hg19	CCDS4293.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.141326|3.141326	0.57044|0.57044	.|.	.|.	ENSG00000169247|ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049|ENST00000394358	T;T;T|T	0.80214|0.72394	-1.07;-1.35;-1.14|-0.65	5.37|5.37	5.37|5.37	0.77165|0.77165	Tetratricopeptide-like helical (1);|.	0.076781|.	0.53938|.	D|.	0.000058|.	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.45581|0.45581	1.43|1.43	0.24075|0.24075	N|N	0.995961|0.995961	D;D;D|P	0.89917|0.43633	1.0;1.0;1.0|0.813	D;D;D|B	0.80764|0.38264	0.994;0.994;0.994|0.269	T|T	0.64659|0.64659	-0.6355|-0.6355	10|9	0.87932|0.87932	D|D	0|0	-9.2116|-9.2116	15.5409|15.5409	0.76048|0.76048	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	987;994;994|915	Q14CC0;E9PDF1;Q8TF17|C9JLC3	.;.;S3TC2_HUMAN|.	R|A	541;994;987|915	ENSP00000441427:L541R;ENSP00000423660:L994R;ENSP00000421860:L987R|ENSP00000377886:S915A	ENSP00000425627:L994R|ENSP00000377886:S915A	L|S	-|-	2|1	0|0	SH3TC2|SH3TC2	148386400|148386400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	7.054000|7.054000	0.76649|0.76649	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	CTC|TCA		TCGA-IB-7651-01A-11D-2154-08	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	0	0	1	163	640	1	160	1	5.068078e-01	2	6	1	160	2		0	0	0	0	0	2	1	1	160	631	1	160	17								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3TC2	79628	broad.mit.edu	37	5	148422323	148422323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148422323C>T	ENST00000515425.1	-	5	564	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K|SH3TC2_ENST00000538184.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2			39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACTTGGATCTCTGTATCCTCC	0.448000																								0							SO:0001583	missense			ENST00000515425.1	1	1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325966	0.24080	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.76968	-1.06;-1.05;-0.72	5.12	3.19	0.36642	.	0.227351	0.36338	N	0.002644	T	0.63873	0.2548	L	0.31926	0.97	0.38647	D	0.951752	B;B;B	0.34255	0.355;0.445;0.445	B;B;B	0.28638	0.092;0.077;0.077	T	0.65319	-0.6197	10	0.33141	T	0.24	.	12.0414	0.53454	0.0:0.8348:0.0:0.1652	.	40;148;155	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	K	155;148;40	ENSP00000423660:E155K;ENSP00000421860:E148K;ENSP00000377886:E40K	ENSP00000313025:E155K	E	-	1	0	SH3TC2	148402516	0.930000	0.31532	0.955000	0.39395	0.270000	0.26580	1.869000	0.39519	1.380000	0.46344	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	1	0	0	43	440	0	90	0	8.400153e-03	0	2	0	90	2		0	0	0	0	0	2	1	1	43	435	0	89	2								-12.857220	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.780000	1.000000	1.000000	0.969593	0.990000	1	9.100000e-01	1
ABLIM3	22885	broad.mit.edu	37	5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	rs150488528	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|ABLIM3_ENST00000519549.1_3'UTR|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3			34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCTGGACCTCCGGCAGAGACG	0.642000																								0							SO:0001583	missense			ENST00000506113.1	1	1	hg19	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889540	0.91889	6.81E-4	2.33E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.0	5.0	0.66597	.	0.113050	0.64402	D	0.000018	T	0.58906	0.2155	L	0.43923	1.385	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.984;0.996;0.794	T	0.60791	-0.7193	10	0.66056	D	0.02	.	18.4763	0.90793	0.0:1.0:0.0:0.0	.	305;305;367	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	W	305;305;367;367;305;367	ENSP00000315841:R305W;ENSP00000348938:R305W;ENSP00000310309:R367W;ENSP00000425394:R367W;ENSP00000421183:R305W;ENSP00000420855:R367W	ENSP00000310309:R367W	R	+	1	2	ABLIM3	148599539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.471000	0.60182	2.598000	0.87819	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	0	0	1	110	539	0	150	1	1	48	98	0	150	2		0	0	0	0	0	2	1	1	108	531	0	148	2								-3.079013	1	1	121412	13	45	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABLIM3	22885	broad.mit.edu	37	5	148627370	148627370	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148627370T>G	ENST00000506113.1	+	17	2059	c.1577T>G	c.(1576-1578)aTt>aGt	p.I526S	ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3			34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGCCGGCTGATTCTGAAGGAA	0.577000																								0							SO:0001583	missense			ENST00000506113.1	1	1	hg19	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352173	0.82132	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.987;0.987;0.982	D;D;D;P	0.83275	0.996;0.976;0.974;0.758	T	0.59263	-0.7487	10	0.87932	D	0	.	15.806	0.78513	0.0:0.0:0.0:1.0	.	12;431;415;526	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	S	431;415;526;526;415;493;12;11	ENSP00000315841:I431S;ENSP00000348938:I415S;ENSP00000310309:I526S;ENSP00000425394:I526S;ENSP00000421183:I415S;ENSP00000420855:I493S;ENSP00000430150:I12S	ENSP00000310309:I526S	I	+	2	0	ABLIM3	148607563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.130000	0.77235	2.142000	0.66516	0.459000	0.35465	ATT		TCGA-IB-7651-01A-11D-2154-08	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	1	0	1	25	238	0	54	1	9.999171e-01	45	99	0	54	2		0	0	0	0	0	2	1	9.999998e-01	25	233	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.760000	1.000000	1.000000	0.973124	0.990000	1	9.300000e-01	1
ABLIM3	22885	broad.mit.edu	37	5	148637959	148637959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148637959C>T	ENST00000506113.1	+	23	2526	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Silent_p.L168L|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Silent_p.L587L|ABLIM3_ENST00000508983.1_Silent_p.L649L|ABLIM3_ENST00000309868.7_Silent_p.L682L			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3			34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCAAGCCCGGCTGTTCTAGGC	0.438000																								0							SO:0001819	synonymous_variant			ENST00000506113.1	1	1	hg19	CCDS4294.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	1	0	1	56	217	0	46	1	1	62	52	0	46	2		0	0	0	0	0	2	1	1	54	209	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFAP1L1	134265	broad.mit.edu	37	5	148679100	148679100	+	Silent	SNP	C	C	T	rs116579139	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148679100C>T	ENST00000296721.4	+	2	143	c.45C>T	c.(43-45)acC>acT	p.T15T	AFAP1L1_ENST00000515000.1_Silent_p.T15T|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1			26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CAGAGCTCACCGGGCTGCTCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000296721.4	1	1	hg19	CCDS34274.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	1	0	1	42	281	0	61	0	1.785748e-02	1	1	0	61	2		0	0	0	0	0	2	1	1	43	278	0	61	2								-3.142960	1	1	121412	9	40	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999871	0.990000	1	9.900000e-01	1
AFAP1L1	134265	broad.mit.edu	37	5	148687146	148687146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148687146G>A	ENST00000296721.4	+	7	815	c.717G>A	c.(715-717)caG>caA	p.Q239Q	AFAP1L1_ENST00000515000.1_Silent_p.Q239Q|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1			26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGGCCAAGCAGCTGACGGTCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000296721.4	1	1	hg19	CCDS34274.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	1	0	1	46	171	0	38	1	9.995817e-01	13	34	0	38	2		0	0	0	0	0	2	1	1	45	170	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCYOX1L	78991	broad.mit.edu	37	5	148742307	148742307	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148742307C>T	ENST00000274569.4	+	2	258	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like			11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGTGGGTGGCCGCTTGGCCAC	0.612000													Ovarian(62;1136 1477 27277 27495)											0							SO:0001583	missense			ENST00000274569.4	1	1	hg19	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884128	0.51908	.	.	ENSG00000145882	ENST00000274569	T	0.15834	2.39	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48019	-0.9071	10	0.87932	D	0	-20.8276	19.1631	0.93543	0.0:1.0:0.0:0.0	.	66	Q8NBM8	PCYXL_HUMAN	C	66	ENSP00000274569:R66C	ENSP00000274569:R66C	R	+	1	0	PCYOX1L	148722500	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.877000	0.69675	2.596000	0.87737	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	1	0	0	63	703	0	127	1	8.767241e-01	4	39	0	127	2		0	0	0	0	0	2	1	1	62	693	0	126	2								-3.075755	1	1	121412	1	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.980000	0.760000	1.000000	1.000000	0.947386	0.980000	1	8.600000e-01	1
PCYOX1L	78991	broad.mit.edu	37	5	148747604	148747604	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148747604G>T	ENST00000274569.4	+	6	934	c.872G>T	c.(871-873)aGc>aTc	p.S291I	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.S201I	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like			11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GTAGGCAACAGCTCTGACTTC	0.527000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Ovarian(62;1136 1477 27277 27495)											0							SO:0001583	missense			ENST00000274569.4	1	1	hg19	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151505	0.21371	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15256	2.9;2.44	5.53	4.47	0.54385	Prenylcysteine lyase (1);	0.425451	0.27354	N	0.019756	T	0.11965	0.0291	N	0.08118	0	0.28518	N	0.913217	B;B;P	0.37594	0.033;0.364;0.601	B;B;B	0.41571	0.066;0.36;0.178	T	0.11641	-1.0579	10	0.37606	T	0.19	-20.1905	15.2515	0.73549	0.0788:0.0:0.9212:0.0	.	173;201;291	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	I	291;201	ENSP00000274569:S291I;ENSP00000428512:S201I	ENSP00000274569:S291I	S	+	2	0	PCYOX1L	148727797	0.981000	0.34729	0.910000	0.35882	0.327000	0.28475	2.055000	0.41345	2.590000	0.87494	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	0	0	0	29	750	0	154	1	7.058431e-01	2	63	0	154	2		0	0	0	0	0	2	1	1	29	740	0	153	2								-3.865586	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.450000	0.300000	1.000000	0.440000	0.492443	0.450000	0	3.700000e-01	5.600000e-01
ARHGEF37	389337	broad.mit.edu	37	5	148996246	148996246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148996246C>T	ENST00000333677.6	+	5	738	c.575C>T	c.(574-576)gCc>gTc	p.A192V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37			17					GATGCCAGTGCCTATCCTGTC	0.522000																								0							SO:0001583	missense			ENST00000333677.6	1	1	hg19	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698084	0.68386	.	.	ENSG00000183111	ENST00000333677	T	0.30448	1.53	5.17	5.17	0.71159	Dbl homology (DH) domain (5);	0.056528	0.64402	D	0.000001	T	0.49372	0.1553	L	0.43923	1.385	0.58432	D	0.999999	D	0.76494	0.999	D	0.68765	0.96	T	0.49762	-0.8905	10	0.87932	D	0	-5.8857	19.0356	0.92976	0.0:1.0:0.0:0.0	.	192	A1IGU5	ARH37_HUMAN	V	192	ENSP00000328083:A192V	ENSP00000328083:A192V	A	+	2	0	ARHGEF37	148976439	1.000000	0.71417	0.993000	0.49108	0.143000	0.21401	3.540000	0.53611	2.584000	0.87258	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	1	0	1	53	288	0	79	1	6.254064e-01	3	10	0	79	2		0	0	0	0	0	2	1	1	52	285	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF37	389337	broad.mit.edu	37	5	148998539	148998539	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148998539C>T	ENST00000333677.6	+	7	991	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37			17					AAGAGAGGTTCCAGTGGGTGT	0.493000											OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000333677.6	1	1	hg19	CCDS43385.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	0	0	0	316	1251	1	320	1	8.359285e-01	3	12	1	320	2		0	0	0	0	0	2	1	1	310	1225	1	318	17								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF37	389337	broad.mit.edu	37	5	148999941	148999941	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148999941G>A	ENST00000333677.6	+	8	1082	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37			17					CAGGCCGCACGAATACAATCT	0.512000																								0							SO:0001583	missense			ENST00000333677.6	1	1	hg19	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194412	0.22037	.	.	ENSG00000183111	ENST00000333677	T	0.58797	0.31	6.07	5.19	0.71726	BAR (2);	0.508022	0.22973	N	0.053418	T	0.54902	0.1887	M	0.75447	2.3	0.19300	N	0.999974	P	0.47962	0.903	B	0.43838	0.433	T	0.50457	-0.8826	10	0.11182	T	0.66	-0.0621	8.7577	0.34656	0.0787:0.1527:0.7685:0.0	.	307	A1IGU5	ARH37_HUMAN	K	307	ENSP00000328083:E307K	ENSP00000328083:E307K	E	+	1	0	ARHGEF37	148980134	0.815000	0.29118	0.153000	0.22517	0.012000	0.07955	2.143000	0.42187	1.553000	0.49476	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	0	0	0	17	582	0	106	0	4.265281e-02	0	11	0	106	2		0	0	0	0	0	2	1	9.999602e-01	17	572	0	105	2								-2.807187	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.340000	0.200000	1.000000	0.330000	0.399386	0.340000	0	2.600000e-01	4.600000e-01
ARHGEF37	389337	broad.mit.edu	37	5	149006811	149006811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006811G>A	ENST00000333677.6	+	11	1800	c.1637G>A	c.(1636-1638)gGc>gAc	p.G546D		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37			17					GGCAACAGCGGCCGCTGGCTG	0.612000																								0							SO:0001583	missense			ENST00000333677.6	1	1	hg19	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	7.143	0.582229	0.13749	.	.	ENSG00000183111	ENST00000333677	T	0.09073	3.02	5.11	2.38	0.29361	Src homology-3 domain (2);Variant SH3 (1);	0.568279	0.20454	N	0.092025	T	0.05593	0.0147	N	0.21448	0.665	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.37572	-0.9700	10	0.31617	T	0.26	.	7.7404	0.28837	0.3962:0.0:0.6038:0.0	.	546	A1IGU5	ARH37_HUMAN	D	546	ENSP00000328083:G546D	ENSP00000328083:G546D	G	+	2	0	ARHGEF37	148987004	0.037000	0.19845	0.505000	0.27651	0.702000	0.40608	1.513000	0.35823	0.573000	0.29400	-0.221000	0.12465	GGC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	1	0	1	102	494	0	121	1	6.355981e-01	2	10	0	121	2		0	0	0	0	0	2	1	1	100	492	0	121	2								-20.000000	1	1	120966	1	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF37	389337	broad.mit.edu	37	5	149006812	149006812	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006812C>A	ENST00000333677.6	+	11	1801	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37			17					GCAACAGCGGCCGCTGGCTGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000333677.6	1	1	hg19	CCDS43385.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	0	0	0	15	581	0	120	0	3.491723e-02	0	11	0	120	2		0	0	0	0	0	2	1	9.998627e-01	15	575	0	120	2								-3.759133	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.310000	0.170000	1.000000	0.290000	0.364534	0.310000	0	2.300000e-01	4.200000e-01
PPARGC1B	133522	broad.mit.edu	37	5	149210396	149210396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149210396G>A	ENST00000309241.5	+	4	564	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T|PPARGC1B_ENST00000403750.1_Intron	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta			30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		GGAAGGGACCGCCTGGCGCCA	0.577000																								0							SO:0001583	missense			ENST00000309241.5	1	1	hg19	CCDS4298.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.74	1.728445	0.30593	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.08896	3.04;3.05	5.29	-9.07	0.00724	.	0.903404	0.09510	N	0.792383	T	0.02533	0.0077	N	0.20685	0.6	0.36951	D	0.892856	B;B;B;B	0.16396	0.003;0.007;0.002;0.017	B;B;B;B	0.09377	0.002;0.004;0.001;0.004	T	0.45833	-0.9234	10	0.02654	T	1	-6.896	1.4094	0.02287	0.3069:0.083:0.2312:0.3789	.	157;157;178;178	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	T	178	ENSP00000377855:A178T;ENSP00000312649:A178T	ENSP00000312649:A178T	A	+	1	0	PPARGC1B	149190589	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-0.281000	0.08456	-1.252000	0.02491	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	1	133	604	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	129	594	0	127	2								-20.000000	1	1	121412	4	40	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPARGC1B	133522	broad.mit.edu	37	5	149212986	149212986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149212986G>A	ENST00000309241.5	+	5	1382	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	PPARGC1B_ENST00000360453.4_Silent_p.E411E|PPARGC1B_ENST00000394320.3_Silent_p.E450E|PPARGC1B_ENST00000403750.1_Silent_p.E386E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta			30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		aggaggaggagTGGGGCAGGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000309241.5	0	1	hg19	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	7.548	0.662079	0.14645	.	.	ENSG00000155846	ENST00000434684	.	.	.	5.38	2.66	0.31614	.	.	.	.	.	T	0.57695	0.2071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	-15.9151	8.4931	0.33112	0.3021:0.0:0.6979:0.0	.	.	.	.	M	137	.	.	V	+	1	0	PPARGC1B	149193179	0.978000	0.34361	1.000000	0.80357	0.978000	0.69477	-0.082000	0.11304	0.264000	0.21851	0.462000	0.41574	GTG		TCGA-IB-7651-01A-11D-2154-08	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	0	14	55	0	9	0	4.694836e-02	0	2	0	9	2		0	0	0	0	0	2	1	9.997859e-01	12	53	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999741	0.990000	1	9.900000e-01	1
PPARGC1B	133522	broad.mit.edu	37	5	149216066	149216066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216066G>A	ENST00000309241.5	+	8	2080	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta			30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		GGCCAGAAGCGTCCCTTCTCC	0.627000																								0							SO:0001583	missense			ENST00000309241.5	1	1	hg19	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443480	0.43429	0.0	1.16E-4	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.21361	2.03;2.01;2.05;2.02	4.47	4.47	0.54385	.	0.193702	0.33161	N	0.005210	T	0.22820	0.0551	L	0.58101	1.795	0.37255	D	0.906726	P;B;P;B;P	0.39737	0.685;0.212;0.685;0.414;0.685	B;B;B;B;B	0.32724	0.14;0.042;0.14;0.066;0.151	T	0.36480	-0.9746	10	0.87932	D	0	-17.9009	17.5766	0.87952	0.0:0.0:1.0:0.0	.	662;662;644;683;683	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	H	644;683;683;619	ENSP00000353638:R644H;ENSP00000377855:R683H;ENSP00000312649:R683H;ENSP00000384403:R619H	ENSP00000312649:R683H	R	+	2	0	PPARGC1B	149196259	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.689000	0.74562	2.212000	0.71576	0.456000	0.33151	CGT		TCGA-IB-7651-01A-11D-2154-08	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	1	78	422	0	94	1	1.199539e-01	2	2	0	94	2		0	0	0	0	0	2	1	1	77	411	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPARGC1B	133522	broad.mit.edu	37	5	149216334	149216334	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216334G>A	ENST00000309241.5	+	8	2348	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000394320.3_Silent_p.E772E|PPARGC1B_ENST00000403750.1_Silent_p.E708E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta			30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		GGCTGCTGGAGACCGCCCTGG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000309241.5	1	1	hg19	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216807	0.09810	.	.	ENSG00000155846	ENST00000434684	.	.	.	4.93	-1.35	0.09114	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.29451	N	0.858469	.	.	.	.	.	.	T	0.29027	-1.0025	4	.	.	.	-10.0845	0.4038	0.00430	0.251:0.2731:0.2459:0.23	.	.	.	.	N	459	.	.	D	+	1	0	PPARGC1B	149196527	0.894000	0.30519	0.255000	0.24374	0.993000	0.82548	0.833000	0.27504	-0.040000	0.13580	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	1	0	0	163	807	0	185	0	1.349241e-01	0	4	0	185	2		0	0	0	0	0	2	1	1	161	799	0	185	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE6A	5145	broad.mit.edu	37	5	149310693	149310693	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149310693A>C	ENST00000255266.5	-	4	875	c.756T>G	c.(754-756)ctT>ctG	p.L252L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha			44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	Caffeine(DB00201)	CGATGTCCGTAAGTTCTTCAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000255266.5	1	1	hg19	CCDS4299.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2	1	0	1	56	306	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	56	303	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE6A	5145	broad.mit.edu	37	5	149324153	149324153	+	Silent	SNP	G	G	A	rs34230349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149324153G>A	ENST00000255266.5	-	1	203	c.84C>T	c.(82-84)taC>taT	p.Y28Y		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha			44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	Caffeine(DB00201)	GCTTGGCCCGGTAGTGGAGGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000255266.5	1	0	hg19	CCDS4299.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2	0	0	1	38	163	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	36	162	0	52	2								-2.402198	0	1	121412	648	58	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIGD6	81789	broad.mit.edu	37	5	149374485	149374485	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149374485A>C	ENST00000296736.3	-	2	2201	c.1427T>G	c.(1426-1428)cTt>cGt	p.L476R	TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6			10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		GAACTGTCTAAGTTTCTGTAC	0.388000																								0							SO:0001583	missense			ENST00000296736.3	1	1	hg19	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364116	0.41902	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.20463	2.07;2.07	4.51	0.74	0.18330	.	0.563343	0.13339	U	0.395337	T	0.22475	0.0542	N	0.24115	0.695	0.22858	N	0.998648	D	0.58620	0.983	P	0.56474	0.799	T	0.12400	-1.0549	10	0.87932	D	0	.	7.6011	0.28077	0.7318:0.0:0.2682:0.0	.	476	Q17RP2	TIGD6_HUMAN	R	476	ENSP00000296736:L476R;ENSP00000425318:L476R	ENSP00000296736:L476R	L	-	2	0	TIGD6	149354678	0.995000	0.38212	0.973000	0.42090	0.828000	0.46876	1.501000	0.35693	0.041000	0.15688	-0.264000	0.10439	CTT		TCGA-IB-7651-01A-11D-2154-08	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	1	0	1	64	297	0	83	1	9.052072e-01	9	12	0	83	2		0	0	0	0	0	2	1	1	61	289	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSF1R	1436	broad.mit.edu	37	5	149439327	149439327	+	Missense_Mutation	SNP	C	C	T	rs141866247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149439327C>T	ENST00000286301.3	-	15	2359	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor			93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)	Imatinib(DB00619)|Sunitinib(DB01268)	GGGTCCTGGCCGGGGCTCAGG	0.582000																								0							SO:0001583	missense			ENST00000286301.3	1	1	hg19	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999846	0.35320	4.54E-4	0.0	ENSG00000182578	ENST00000286301	T	0.77098	-1.07	4.79	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.588531	0.15014	N	0.285361	T	0.61274	0.2334	L	0.33339	1.005	0.21782	N	0.999544	D	0.54601	0.967	B	0.37888	0.26	T	0.53865	-0.8378	10	0.35671	T	0.21	.	6.1275	0.20187	0.1519:0.6892:0.0:0.1589	.	690	P07333	CSF1R_HUMAN	S	690	ENSP00000286301:G690S	ENSP00000286301:G690S	G	-	1	0	CSF1R	149419520	0.000000	0.05858	0.158000	0.22627	0.047000	0.14425	0.720000	0.25896	1.336000	0.45506	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	1	0	1	86	414	0	76	0	1	0	262	0	76	2		0	0	0	0	0	2	1	1	86	408	0	74	2								-3.045093	1	1	121392	2	41	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDGFRB	5159	broad.mit.edu	37	5	149495413	149495413	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149495413G>T	ENST00000261799.4	-	23	3703	c.3234C>A	c.(3232-3234)ctC>ctA	p.L1078L	CSF1R_ENST00000286301.3_5'Flank	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide			75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCCACCTGGAGCTCAAGCT	0.642000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML										Dom	yes		5	5q31-q32	5159	platelet-derived growth factor receptor, beta polypeptide		L	0							SO:0001819	synonymous_variant			ENST00000261799.4	0	1	hg19	CCDS4303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	0	0	0	6	115	0	31	0	9.999984e-01	1	942	0	31	2		0	0	0	0	0	2	1	9.634566e-01	6	112	0	30	2								-9.504075	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.640000	0.260000	1.000000	1.000000	0.663205	0.640000	0	4.200000e-01	9.700000e-01
PDGFRB	5159	broad.mit.edu	37	5	149500528	149500528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149500528C>A	ENST00000261799.4	-	18	2978	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide			75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGCTTGCCTTCACAGATG	0.582000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML										Dom	yes		5	5q31-q32	5159	platelet-derived growth factor receptor, beta polypeptide		L	0							SO:0001583	missense			ENST00000261799.4	1	1	hg19	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348081	0.95807	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.89617	-2.54	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.274240	0.25025	N	0.033728	D	0.93963	0.8067	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94467	0.7681	10	0.87932	D	0	.	18.746	0.91792	0.0:1.0:0.0:0.0	.	837;837	A8KAM8;P09619	.;PGFRB_HUMAN	C	837;507	ENSP00000261799:G837C	ENSP00000261799:G837C	G	-	1	0	PDGFRB	149480721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.086000	0.71352	2.504000	0.84457	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	1	0	1	74	300	0	70	0	1	0	778	0	70	2		0	0	0	0	0	2	1	1	74	294	0	69	2								-3.426203	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDGFRB	5159	broad.mit.edu	37	5	149512485	149512485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149512485G>A	ENST00000261799.4	-	7	1424	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide			75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTCTCCCAGGAGCCGCACG	0.647000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML										Dom	yes		5	5q31-q32	5159	platelet-derived growth factor receptor, beta polypeptide		L	0							SO:0001819	synonymous_variant			ENST00000261799.4	0	1	hg19	CCDS4303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	1	0	0	8	32	0	11	0	1	1	661	0	11	2		0	0	0	0	0	2	1	9.910206e-01	8	31	0	11	2								-17.340500	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.996792	0.990000	1	9.900000e-01	1
ARSI	340075	broad.mit.edu	37	5	149677669	149677669	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149677669G>T	ENST00000328668.7	-	2	1397	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I			23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GTTGCGCACAGCCTCATCCAT	0.597000																								0							SO:0001583	missense			ENST00000328668.7	1	1	hg19	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432615	0.83776	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96913	-4.17;-4.17	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.78049	2.395	0.80722	D	1	P	0.50943	0.94	P	0.58391	0.838	D	0.98335	1.0535	10	0.72032	D	0.01	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	273	Q5FYB1	ARSI_HUMAN	D	273;130	ENSP00000333395:A273D;ENSP00000426879:A130D	ENSP00000333395:A273D	A	-	2	0	ARSI	149657862	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.501000	0.66950	2.460000	0.83146	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	1	0	1	43	176	0	45	0	9.432384e-01	0	22	0	45	2		0	0	0	0	0	2	1	1	43	172	0	45	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCOF1	6949	broad.mit.edu	37	5	149771736	149771736	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149771736C>T	ENST00000504761.2	+	21	3514	c.3514C>T	c.(3514-3516)Ctg>Ttg	p.L1172L	TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000513346.1_Silent_p.L1171L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000439160.2_Silent_p.L1134L|TCOF1_ENST00000451292.1_Silent_p.L1209L|TCOF1_ENST00000445265.2_Silent_p.L1095L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1			35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		AGCCCACACGCTGGGTGAGGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000504761.2	0	1	hg19	CCDS54936.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	0	0	0	6	265	0	39	1	5.053548e-01	2	67	0	39	2		0	0	0	0	0	2	1	9.598027e-01	6	252	0	38	2								-7.193347	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.290000	0.110000	1.000000	0.270000	0.349740	0.290000	0	1.800000e-01	4.500000e-01
CD74	972	broad.mit.edu	37	5	149786471	149786471	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149786471C>T	ENST00000009530.7	-	3	352	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CD74_ENST00000524315.1_Silent_p.A117A|CD74_ENST00000377795.3_Silent_p.A117A|CD74_ENST00000353334.6_Silent_p.A117A			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain			5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CCATGGGCAGCGCCTGCATCA	0.682000			T	ROS1	NSCLC										Dom	yes		5	5q32	972	CD74 molecule, major histocompatibility complex, class II invariant chain		E	0							SO:0001819	synonymous_variant			ENST00000009530.7	1	1	hg19	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	C	4.129	0.022268	0.08006	.	.	ENSG00000019582	ENST00000518797	T	0.61627	0.09	4.51	-7.42	0.01388	.	0.989663	0.08250	N	0.974778	T	0.25901	0.0631	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	T	0.19031	-1.0318	7	0.17369	T	0.5	-1.7585	0.562	0.00680	0.212:0.1953:0.2097:0.383	.	.	.	.	T	112	ENSP00000430614:A112T	ENSP00000430614:A112T	A	-	1	0	CD74	149766664	0.000000	0.05858	0.009000	0.14445	0.490000	0.33462	-3.837000	0.00354	-1.756000	0.01318	-0.215000	0.12644	GCT		TCGA-IB-7651-01A-11D-2154-08	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	1	0	1	15	54	0	18	1	1	920	5606	0	18	2		0	0	0	0	0	2	1	9.999174e-01	15	52	0	18	2								-20.000000	1	1	120888	22	39	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999890	0.990000	1	9.900000e-01	1
NDST1	3340	broad.mit.edu	37	5	149927843	149927843	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149927843G>A	ENST00000261797.6	+	12	2711	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1			34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GATTACCGCCGGCTCTGACGC	0.622000																								0							SO:0001583	missense			ENST00000261797.6	1	1	hg19	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500001	0.12762	0.0	1.16E-4	ENSG00000070614	ENST00000261797	T	0.56103	0.48	4.91	4.04	0.47022	Sulfotransferase domain (1);	0.308220	0.39615	N	0.001304	T	0.29389	0.0732	N	0.16016	0.355	0.58432	D	0.999998	B	0.27264	0.173	B	0.18561	0.022	T	0.16778	-1.0391	10	0.02654	T	1	.	13.2775	0.60196	0.0763:0.0:0.9237:0.0	.	737	P52848	NDST1_HUMAN	S	737	ENSP00000261797:G737S	ENSP00000261797:G737S	G	+	1	0	NDST1	149908036	1.000000	0.71417	0.018000	0.16275	0.041000	0.13682	4.852000	0.62904	1.203000	0.43233	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	1	0	1	51	255	0	62	1	9.997707e-01	6	59	0	62	2		0	0	0	0	0	2	1	1	51	250	0	62	2								-20.000000	1	1	121412	1	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDST1	3340	broad.mit.edu	37	5	149929267	149929267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149929267C>T	ENST00000261797.6	+	13	2846	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	NDST1_ENST00000523767.1_Missense_Mutation_p.R725C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1			34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CAAACTGCTTCGCACAGAACC	0.532000																								0							SO:0001583	missense			ENST00000261797.6	1	1	hg19	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007009	0.74932	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;D	0.82893	0.5;-1.66	5.01	3.17	0.36434	Sulfotransferase domain (1);	0.056562	0.64402	D	0.000001	D	0.89784	0.6815	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.967;0.985	D	0.90059	0.4155	10	0.72032	D	0.01	.	14.0209	0.64555	0.2763:0.7237:0.0:0.0	.	725;782	E7EVJ3;P52848	.;NDST1_HUMAN	C	725;782	ENSP00000428604:R725C;ENSP00000261797:R782C	ENSP00000261797:R782C	R	+	1	0	NDST1	149909460	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	1.493000	0.35605	0.583000	0.29574	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	0	0	0	34	125	0	25	1	9.999988e-01	2	83	0	25	2		0	0	0	0	0	2	1	1	34	120	0	25	2								-3.657797	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNPO	11346	broad.mit.edu	37	5	150027809	150027809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027809G>A	ENST00000394243.1	+	3	1078	c.704G>A	c.(703-705)aGc>aAc	p.S235N	SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin			18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		AGTCCCCAGAGCCCCGACAGA	0.667000																								0							SO:0001583	missense			ENST00000394243.1	1	1	hg19	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202039	0.22121	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.23754	1.89;1.89	5.16	2.19	0.27852	.	0.000000	0.48767	D	0.000172	T	0.15392	0.0371	L	0.29908	0.895	0.40926	D	0.984353	B	0.18166	0.026	B	0.19391	0.025	T	0.09640	-1.0665	10	0.17369	T	0.5	-11.3873	7.7797	0.29058	0.1734:0.1482:0.6784:0.0	.	235	Q8N3V7	SYNPO_HUMAN	N	235	ENSP00000377789:S235N;ENSP00000428378:S235N	ENSP00000377789:S235N	S	+	2	0	SYNPO	150008002	0.000000	0.05858	0.979000	0.43373	0.720000	0.41350	-0.198000	0.09505	0.587000	0.29643	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	1	0	0	28	106	0	21	1	1	6	158	0	21	2		0	0	0	0	0	2	1	1	26	106	0	21	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SYNPO	11346	broad.mit.edu	37	5	150027836	150027836	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027836G>T	ENST00000394243.1	+	3	1105	c.731G>T	c.(730-732)aGc>aTc	p.S244I	SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin			18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CCTGGCCACAGCATGGAGGGG	0.637000																								0							SO:0001583	missense			ENST00000394243.1	0	1	hg19	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105396	0.37145	.	.	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.25085	1.82;1.82	5.28	3.41	0.39046	.	0.143250	0.32785	N	0.005657	T	0.13114	0.0318	N	0.17082	0.46	0.80722	D	1	B	0.14012	0.009	B	0.14578	0.011	T	0.09422	-1.0675	10	0.29301	T	0.29	-9.2011	5.4992	0.16819	0.1582:0.0:0.6693:0.1725	.	244	Q8N3V7	SYNPO_HUMAN	I	244	ENSP00000377789:S244I;ENSP00000428378:S244I	ENSP00000377789:S244I	S	+	2	0	SYNPO	150008029	0.047000	0.20315	0.998000	0.56505	0.957000	0.61999	2.160000	0.42348	1.164000	0.42652	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	0	0	0	7	207	0	35	0	9.611058e-01	1	172	0	35	2		0	0	0	0	0	2	1	9.797972e-01	6	204	0	35	2								-8.913949	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.420000	0.180000	1.000000	0.380000	0.470913	0.420000	0	2.800000e-01	6.300000e-01
SYNPO	11346	broad.mit.edu	37	5	150028766	150028766	+	Missense_Mutation	SNP	G	G	A	rs35729008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150028766G>A	ENST00000394243.1	+	3	2035	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R310H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin			18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		TCAGAGAGACGCCCCTTGGGG	0.617000																								0							SO:0001583	missense			ENST00000394243.1	0	1	hg19	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053652	0.36277	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.26810	1.73;1.73;1.71	5.18	4.31	0.51392	.	0.116138	0.39407	N	0.001380	T	0.33352	0.0860	L	0.32530	0.975	0.32458	N	0.544542	B;D	0.76494	0.004;0.999	B;D	0.65233	0.004;0.933	T	0.40040	-0.9584	10	0.44086	T	0.13	-10.0133	8.5346	0.33355	0.0833:0.1537:0.763:0.0	.	310;554	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	H	554;554;310;310	ENSP00000377789:R554H;ENSP00000428378:R554H;ENSP00000429268:R310H	ENSP00000302139:R310H	R	+	2	0	SYNPO	150008959	0.990000	0.36364	0.998000	0.56505	0.252000	0.25951	2.217000	0.42880	1.182000	0.42928	-0.258000	0.10820	CGC		TCGA-IB-7651-01A-11D-2154-08	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	0	0	0	9	316	0	58	0	9.899435e-01	1	283	0	58	2		0	0	0	0	0	2	1	9.940580e-01	9	312	0	57	2								-9.312084	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.350000	0.160000	1.000000	0.320000	0.404067	0.350000	0	2.400000e-01	5.100000e-01
MYOZ3	91977	broad.mit.edu	37	5	150052037	150052037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150052037G>T	ENST00000297130.4	+	6	759	c.560G>T	c.(559-561)aGc>aTc	p.S187I	CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I|MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3			5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CACACCCCCAGCCCCAACGAC	0.642000																								0							SO:0001583	missense			ENST00000297130.4	1	1	hg19	CCDS4309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.004|6.004	0.369069|0.369069	0.11352|0.11352	.|.	.|.	ENSG00000164591|ENSG00000164591	ENST00000520112|ENST00000517768;ENST00000297130;ENST00000523553	.|T;T;T	.|0.64803	.|-0.12;-0.12;-0.12	4.71|4.71	0.856|0.856	0.19019|0.19019	.|.	.|0.558332	.|0.17869	.|N	.|0.159246	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.12156	.|0.007	T|T	0.18935|0.18935	-1.0321|-1.0321	6|10	0.87932|0.35671	D|T	0|0.21	-3.4812|-3.4812	4.3584|4.3584	0.11190|0.11190	0.2635:0.0:0.5748:0.1616|0.2635:0.0:0.5748:0.1616	.|.	.|187	.|Q8TDC0	.|MYOZ3_HUMAN	H|I	103|187;187;95	.|ENSP00000428815:S187I;ENSP00000297130:S187I;ENSP00000430913:S95I	ENSP00000429439:Q103H|ENSP00000297130:S187I	Q|S	+|+	3|2	2|0	MYOZ3|MYOZ3	150032230|150032230	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	-0.065000|-0.065000	0.11617|0.11617	-0.035000|-0.035000	0.13691|0.13691	-0.254000|-0.254000	0.11334|0.11334	CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	1	0	0	29	129	0	33	0	9.404474e-02	0	3	0	33	2		0	0	0	0	0	2	1	1	27	127	0	32	2								-18.055210	1	1	121324	1	24	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
MYOZ3	91977	broad.mit.edu	37	5	150056304	150056304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150056304G>A	ENST00000297130.4	+	7	822	c.623G>A	c.(622-624)gGc>gAc	p.G208D	MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000520112.1_Silent_p.G124G|MYOZ3_ENST00000456566.2_3'UTR	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3			5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTCGTGGGGGGCACTTTTCCC	0.627000																								0							SO:0001583	missense			ENST00000297130.4	1	1	hg19	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255870	0.01457	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.62232	0.04;0.04	5.2	4.05	0.47172	.	0.534254	0.18213	N	0.148114	T	0.30792	0.0776	N	0.03608	-0.345	0.21220	N	0.999752	B	0.02656	0.0	B	0.04013	0.001	T	0.25502	-1.0130	10	0.05959	T	0.93	-13.8802	7.1606	0.25662	0.8949:0.0:0.1051:0.0	.	208	Q8TDC0	MYOZ3_HUMAN	D	208	ENSP00000428815:G208D;ENSP00000297130:G208D	ENSP00000297130:G208D	G	+	2	0	MYOZ3	150036497	0.990000	0.36364	0.404000	0.26397	0.005000	0.04900	2.768000	0.47645	0.832000	0.34804	-0.302000	0.09304	GGC		TCGA-IB-7651-01A-11D-2154-08	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	1	0	1	119	573	0	120	0	2.088085e-01	0	5	0	120	2		0	0	0	0	0	2	1	1	115	560	0	119	2								-3.333400	1	1	121412	1	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM22	55696	broad.mit.edu	37	5	150071373	150071373	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150071373G>A	ENST00000199814.4	-	11	1324	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	RBM22_ENST00000540000.1_Silent_p.H352H|RBM22_ENST00000447771.2_Silent_p.H352H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22			17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GAGAAGGATAGTGGATTGGTC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000199814.4	1	1	hg19	CCDS34278.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	1	0	1	82	401	0	106	1	1	55	141	0	106	2		0	0	0	0	0	2	1	1	81	394	0	104	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM22	55696	broad.mit.edu	37	5	150076139	150076139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150076139G>A	ENST00000199814.4	-	6	622	c.501C>T	c.(499-501)ttC>ttT	p.F167F	RBM22_ENST00000540000.1_Silent_p.F118F|RBM22_ENST00000447771.2_Silent_p.F118F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22			17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTTTCACCCAGAAGGAGCAAA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000199814.4	1	1	hg19	CCDS34278.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	1	0	1	50	569	0	124	1	9.999984e-01	26	194	0	124	2		0	0	0	0	0	2	1	1	50	557	0	121	2								-12.488290	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.960000	0.720000	1.000000	1.000000	0.934357	0.960000	1	8.300000e-01	1
RBM22	55696	broad.mit.edu	37	5	150078092	150078092	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150078092G>A	ENST00000199814.4	-	4	361	c.240C>T	c.(238-240)gtC>gtT	p.V80V	RBM22_ENST00000540000.1_Intron|RBM22_ENST00000447771.2_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22			17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		AGGTCTGACAGACATTCTTCA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000199814.4	1	1	hg19	CCDS34278.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	0	0	0	24	574	0	124	1	9.861565e-01	10	153	0	124	2		0	0	0	0	0	2	1	9.999996e-01	25	564	0	123	2								-4.209479	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.480000	0.310000	1.000000	0.480000	0.527173	0.480000	0	3.900000e-01	6.200000e-01
DCTN4	51164	broad.mit.edu	37	5	150097898	150097898	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150097898G>T	ENST00000447998.2	-	11	1126	c.1011C>A	c.(1009-1011)acC>acA	p.T337T	DCTN4_ENST00000424236.1_Silent_p.T280T|DCTN4_ENST00000446090.2_Silent_p.T344T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)			10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GAGTCACATGGGTGAGGTTCT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000447998.2	1	1	hg19	CCDS4310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1	0	0	0	7	182	0	49	1	8.872327e-01	5	98	0	49	2		0	0	0	0	0	2	1	9.808492e-01	7	181	0	49	2								-3.326048	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.470000	0.210000	1.000000	0.440000	0.521364	0.470000	0	3.200000e-01	7.100000e-01
ZNF300	91975	broad.mit.edu	37	5	150276091	150276091	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150276091C>A	ENST00000274599.5	-	6	1130	c.710G>T	c.(709-711)gGa>gTa	p.G237V	ZNF300_ENST00000446148.2_Missense_Mutation_p.G253V|ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300			27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		AGGTATTACTCCATTGTGAAT	0.343000																								0							SO:0001583	missense			ENST00000274599.5	1	1	hg19	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861304	0.32884	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08458	3.17;3.17;3.09;3.17	3.04	2.16	0.27623	.	.	.	.	.	T	0.16041	0.0386	L	0.46157	1.445	0.33494	D	0.589114	D	0.60575	0.988	P	0.59825	0.864	T	0.18840	-1.0324	9	0.87932	D	0	.	8.4296	0.32750	0.0:0.8766:0.0:0.1234	.	237	Q96RE9	ZN300_HUMAN	V	253;237;201;237	ENSP00000397178:G253V;ENSP00000274599:G237V;ENSP00000392593:G201V;ENSP00000377773:G237V	ENSP00000274599:G237V	G	-	2	0	ZNF300	150256284	0.000000	0.05858	0.344000	0.25628	0.607000	0.37147	0.109000	0.15417	0.849000	0.35215	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	115	462	0	109	0	4.966848e-01	0	8	0	109	2		0	0	0	0	0	2	1	1	115	447	0	109	2								-3.443737	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF300	91975	broad.mit.edu	37	5	150277639	150277639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150277639C>T	ENST00000274599.5	-	5	670	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T|ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T|ZNF300_ENST00000427179.1_Missense_Mutation_p.A84T|ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300			27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTCCCATCTGCCTGATATTCA	0.363000																								0							SO:0001583	missense			ENST00000274599.5	1	1	hg19	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830383	0.50845	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.08102	3.17;3.17;3.13;5.86;3.17	3.48	1.65	0.23941	.	.	.	.	.	T	0.04679	0.0127	N	0.14661	0.345	0.24187	N	0.995566	B	0.10296	0.003	B	0.09377	0.004	T	0.45483	-0.9258	9	0.22109	T	0.4	.	7.2149	0.25955	0.0:0.7715:0.0:0.2285	.	84	Q96RE9	ZN300_HUMAN	T	100;84;48;84;84	ENSP00000397178:A100T;ENSP00000274599:A84T;ENSP00000392593:A48T;ENSP00000414195:A84T;ENSP00000377773:A84T	ENSP00000274599:A84T	A	-	1	0	ZNF300	150257832	0.004000	0.15560	0.827000	0.32855	0.975000	0.68041	0.432000	0.21461	0.287000	0.22375	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	80	360	0	116	0	7.520649e-01	1	13	0	116	2		0	0	0	0	0	2	1	1	80	348	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANXA6	309	broad.mit.edu	37	5	150497386	150497386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150497386G>A	ENST00000354546.5	-	19	1678	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6			12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		ATCCTCCAGGGACTTGTGATA	0.577000																								0							SO:0001583	missense			ENST00000354546.5	1	1	hg19	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899076	0.72754	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66	5.25	5.25	0.73442	Annexin repeat, conserved site (1);	0.181657	0.48286	D	0.000185	T	0.33352	0.0860	H	0.95260	3.645	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.995;0.991	D;P;P	0.72338	0.977;0.869;0.908	T	0.51284	-0.8725	10	0.87932	D	0	.	17.6098	0.88049	0.0:0.0:1.0:0.0	.	277;484;484	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	F	484;452;141;484;277;358	ENSP00000346550:S484F;ENSP00000430517:S452F;ENSP00000366980:S141F;ENSP00000348889:S484F;ENSP00000430420:S277F	ENSP00000346550:S484F	S	-	2	0	ANXA6	150477579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.204000	0.51082	2.438000	0.82558	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	1	0	1	28	114	0	34	1	1	32	712	0	34	2		0	0	0	0	0	2	1	1	28	112	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ANXA6	309	broad.mit.edu	37	5	150498908	150498908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150498908G>A	ENST00000354546.5	-	18	1618	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I|ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6			12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		ATTGGTCCGAGTGGCCAGGAT	0.552000																								0							SO:0001583	missense			ENST00000354546.5	1	1	hg19	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920715	0.92249	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	5.36	5.36	0.76844	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.13335	-1.0513	10	0.87932	D	0	.	17.8553	0.88761	0.0:0.0:1.0:0.0	.	257;464;464	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	464;432;121;464;257;338	ENSP00000346550:T464I;ENSP00000430517:T432I;ENSP00000366980:T121I;ENSP00000348889:T464I;ENSP00000430420:T257I	ENSP00000346550:T464I	T	-	2	0	ANXA6	150479101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.733000	0.74796	2.502000	0.84385	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	1	0	1	71	286	0	77	1	1	14	1012	0	77	2		0	0	0	0	0	2	1	1	70	282	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC69	26112	broad.mit.edu	37	5	150581210	150581210	+	Missense_Mutation	SNP	C	C	T	rs140977954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150581210C>T	ENST00000355417.2	-	3	338	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69			9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTTCTGGTGCCGCTCAGCCTC	0.448000																								0							SO:0001583	missense			ENST00000355417.2	1	1	hg19	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210283	0.06140	2.27E-4	2.33E-4	ENSG00000198624	ENST00000355417	T	0.20598	2.06	4.28	0.265	0.15612	.	0.987391	0.08243	N	0.975854	T	0.07413	0.0187	N	0.01576	-0.805	0.21355	N	0.999715	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.23891	T	0.37	-12.4226	7.9704	0.30124	0.0:0.195:0.0:0.805	.	55	A6NI79	CCD69_HUMAN	Q	55	ENSP00000347586:R55Q	ENSP00000347586:R55Q	R	-	2	0	CCDC69	150561403	0.933000	0.31639	0.158000	0.22627	0.025000	0.11179	0.372000	0.20467	-0.012000	0.14223	-1.119000	0.02030	CGG		TCGA-IB-7651-01A-11D-2154-08	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	1	0	1	90	358	0	93	1	9.999983e-01	2	76	0	93	2		0	0	0	0	0	2	1	1	85	350	0	92	2								-3.176620	1	1	121412	8	42	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC36A3	285641	broad.mit.edu	37	5	150664259	150664259	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150664259G>T	ENST00000335230.3	-	7	1133	c.722C>A	c.(721-723)cCc>cAc	p.P241H	SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3			21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		TAGGTTGCTGGGATATGGAAT	0.473000																								0							SO:0001583	missense			ENST00000335230.3	1	1	hg19	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438396	0.43326	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02301	4.35;4.35	4.35	3.45	0.39498	.	0.052083	0.85682	N	0.000000	T	0.07548	0.0190	M	0.77103	2.36	0.45354	D	0.99834	B;P;B	0.38223	0.241;0.623;0.258	B;P;B	0.50192	0.202;0.634;0.202	T	0.35992	-0.9766	10	0.15499	T	0.54	.	13.1275	0.59364	0.0:0.0:0.8332:0.1668	.	282;241;226	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	H	241;282	ENSP00000334750:P241H;ENSP00000366942:P282H	ENSP00000334750:P241H	P	-	2	0	SLC36A3	150644452	1.000000	0.71417	0.864000	0.33941	0.342000	0.28953	6.764000	0.74960	1.125000	0.41998	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	1	0	0	18	179	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	9.999839e-01	16	178	0	67	2								-8.222581	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.680000	1.000000	1.000000	0.954277	0.990000	1	8.700000e-01	1
SLC36A3	285641	broad.mit.edu	37	5	150672988	150672988	+	Missense_Mutation	SNP	G	G	A	rs150561602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150672988G>A	ENST00000335230.3	-	4	752	c.341C>T	c.(340-342)gCc>gTc	p.A114V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3			21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GTACATCGTGGCCTCTCCATA	0.438000																								0							SO:0001583	missense			ENST00000335230.3	1	1	hg19	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	6.365	0.435412	0.12045	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.04360	3.64;3.89	4.2	3.34	0.38264	.	0.227351	0.44285	D	0.000473	T	0.03348	0.0097	N	0.17278	0.47	0.34852	D	0.741785	B;B;B	0.17465	0.007;0.022;0.006	B;B;B	0.23419	0.017;0.046;0.041	T	0.32903	-0.9889	10	0.09843	T	0.71	-0.3054	12.057	0.53540	0.084:0.0:0.916:0.0	.	114;114;58	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	114	ENSP00000334750:A114V;ENSP00000366942:A114V	ENSP00000334750:A114V	A	-	2	0	SLC36A3	150653181	0.998000	0.40836	0.908000	0.35775	0.608000	0.37181	4.935000	0.63498	1.004000	0.39156	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	1	0	1	23	105	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.999997e-01	23	103	0	27	2								-3.824256	1	1	121412	55	48	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
SLC36A2	153201	broad.mit.edu	37	5	150726957	150726957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150726957G>A	ENST00000335244.4	-	1	194	c.65C>T	c.(64-66)tCg>tTg	p.S22L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2			33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	Cycloserine(DB00260)	TTCAGGAGGCGACATAAGGTC	0.488000																								0							SO:0001583	missense			ENST00000335244.4	1	0	hg19	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885151	0.33255	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10099	3.73;2.91	5.0	2.2	0.27929	.	0.695646	0.13942	N	0.352155	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	D;P;B	0.54772	0.968;0.553;0.211	B;B;B	0.33339	0.162;0.118;0.037	T	0.37663	-0.9696	10	0.34782	T	0.22	-0.4317	3.6879	0.08335	0.0901:0.1665:0.5709:0.1725	.	22;22;22	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	L	22	ENSP00000334223:S22L;ENSP00000430535:S22L	ENSP00000334223:S22L	S	-	2	0	SLC36A2	150707150	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.591000	0.23969	0.362000	0.24319	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1	0	0	1	113	988	1	212		0	0	0	1	212	2		0	0	0	0	0	2	1	1	113	963	1	211	18								-20.000000	1	0	121412	7	51	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999469	0.990000	1	9.900000e-01	1
SLC36A1	206358	broad.mit.edu	37	5	150853243	150853243	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150853243G>T	ENST00000243389.3	+	8	956	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1			25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GAGGATCCCAGACCCCAGCCA	0.458000													Melanoma(151;1534 1860 12947 32979 37872)											0							SO:0001583	missense			ENST00000243389.3	1	1	hg19	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566284	0.27915	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.32515	4.41;4.41;4.41;1.45	5.34	-0.673	0.11373	.	0.550392	0.19839	N	0.104888	T	0.29223	0.0727	M	0.64676	1.99	0.40614	D	0.9817	B;B	0.21606	0.025;0.058	B;B	0.29353	0.075;0.101	T	0.08472	-1.0720	10	0.39692	T	0.17	.	9.5424	0.39260	0.4302:0.0:0.5698:0.0	.	245;245	E7EW39;Q7Z2H8	.;S36A1_HUMAN	Y	245;245;245;245;4	ENSP00000428140:D245Y;ENSP00000243389:D245Y;ENSP00000430305:D245Y;ENSP00000428738:D4Y	ENSP00000243389:D245Y	D	+	1	0	SLC36A1	150833436	0.111000	0.22076	0.872000	0.34217	0.956000	0.61745	0.393000	0.20817	-0.333000	0.08476	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	1	0	1	211	942	0	204	1	9.999797e-01	5	64	0	204	2		0	0	0	0	0	2	1	1	200	909	0	200	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150887020	150887020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150887020C>T	ENST00000261800.5	-	22	12224	c.12212G>A	c.(12211-12213)cGc>cAc	p.R4071H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTTGCAACGGCGGCAGTAGAA	0.577000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513696	0.44763	.	.	ENSG00000086570	ENST00000261800	T	0.74002	-0.8	5.6	4.54	0.55810	Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000020	T	0.63510	0.2517	L	0.39147	1.195	0.39358	D	0.965872	B;B	0.19935	0.032;0.04	B;B	0.08055	0.003;0.003	T	0.59397	-0.7462	10	0.23891	T	0.37	.	12.5214	0.56060	0.0:0.863:0.0:0.137	.	4071;1176	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	4071	ENSP00000261800:R4071H	ENSP00000261800:R4071H	R	-	2	0	FAT2	150867213	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.285000	0.18883	2.636000	0.89361	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	1	79	378	1	69		0	0	0	1	69	2		0	0	0	0	0	2	1	1	79	371	1	67	21								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150920160	150920160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150920160C>T	ENST00000261800.5	-	10	9019	c.9007G>A	c.(9007-9009)Gac>Aac	p.D3003N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		TCATTGACGTCCAGGACAAAG	0.547000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367829	0.95900	.	.	ENSG00000086570	ENST00000261800	T	0.03468	3.92	5.12	5.12	0.69794	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.24236	0.0587	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03773	-1.1005	10	0.52906	T	0.07	.	18.5669	0.91120	0.0:1.0:0.0:0.0	.	3003	Q9NYQ8	FAT2_HUMAN	N	3003	ENSP00000261800:D3003N	ENSP00000261800:D3003N	D	-	1	0	FAT2	150900353	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.755000	0.85180	2.401000	0.81631	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	27	166	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	26	162	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999676	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150925264	150925264	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925264C>A	ENST00000261800.5	-	9	5436	c.5424G>T	c.(5422-5424)gaG>gaT	p.E1808D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		ACTTCAAGGCCTCCGGCTCCA	0.413000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492075	0.26774	.	.	ENSG00000086570	ENST00000261800	T	0.59083	0.29	5.25	0.888	0.19206	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.58090	0.2098	L	0.33624	1.015	0.33432	D	0.581211	D	0.76494	0.999	D	0.72075	0.976	T	0.60469	-0.7257	10	0.11485	T	0.65	.	11.0364	0.47804	0.0:0.5115:0.0:0.4885	.	1808	Q9NYQ8	FAT2_HUMAN	D	1808	ENSP00000261800:E1808D	ENSP00000261800:E1808D	E	-	3	2	FAT2	150905457	0.922000	0.31269	0.215000	0.23724	0.968000	0.65278	0.106000	0.15354	-0.076000	0.12775	0.467000	0.42956	GAG		TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	114	397	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	110	389	0	101	2								-4.355268	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150925761	150925761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925761G>A	ENST00000261800.5	-	9	4939	c.4927C>T	c.(4927-4929)Ctg>Ttg	p.L1643L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		ACTGTAGCCAGGTCATGCCAT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000261800.5	1	1	hg19	CCDS4317.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	0	17	283	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	9.999630e-01	17	277	0	74	2								-3.077847	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.690000	0.410000	1.000000	1.000000	0.714856	0.690000	0	5.400000e-01	9.100000e-01
FAT2	2196	broad.mit.edu	37	5	150930195	150930195	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930195A>C	ENST00000261800.5	-	7	4546	c.4534T>G	c.(4534-4536)Ttg>Gtg	p.L1512V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CCGAGGTCCAATTTTCCCACC	0.527000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878017	0.33162	.	.	ENSG00000086570	ENST00000261800	T	0.73152	-0.72	4.96	-1.55	0.08558	Cadherin (4);Cadherin-like (1);	0.136124	0.32901	N	0.005516	D	0.83408	0.5248	M	0.92604	3.325	0.40652	D	0.982044	D	0.64830	0.994	D	0.63597	0.916	T	0.82872	-0.0242	10	0.72032	D	0.01	.	10.8168	0.46580	0.3463:0.0:0.6537:0.0	.	1512	Q9NYQ8	FAT2_HUMAN	V	1512	ENSP00000261800:L1512V	ENSP00000261800:L1512V	L	-	1	2	FAT2	150910388	0.976000	0.34144	0.423000	0.26634	0.024000	0.10985	0.208000	0.17415	-0.781000	0.04548	-0.248000	0.11899	TTG		TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	89	296	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	84	283	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150930355	150930355	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930355G>T	ENST00000261800.5	-	7	4386	c.4374C>A	c.(4372-4374)ccC>ccA	p.P1458P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CGGTGTCCTGGGGAACTCTGA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000261800.5	1	1	hg19	CCDS4317.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	36	168	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	34	165	0	47	2								-2.797192	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150934003	150934003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150934003C>T	ENST00000261800.5	-	4	3877	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTGAAGGCCTCCTCATCGCTG	0.547000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725474	0.30593	.	.	ENSG00000086570	ENST00000261800	T	0.01705	4.68	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.339974	0.26207	N	0.025707	T	0.02267	0.0070	L	0.35341	1.055	0.37125	D	0.901	B	0.13594	0.008	B	0.19666	0.026	T	0.54768	-0.8244	10	0.10902	T	0.67	.	18.6671	0.91495	0.0:1.0:0.0:0.0	.	1289	Q9NYQ8	FAT2_HUMAN	K	1289	ENSP00000261800:E1289K	ENSP00000261800:E1289K	E	-	1	0	FAT2	150914196	0.271000	0.24162	0.935000	0.37517	0.399000	0.30720	2.378000	0.44309	2.713000	0.92767	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	100	396	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	99	391	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150945633	150945633	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150945633G>A	ENST00000261800.5	-	1	2872	c.2860C>T	c.(2860-2862)Ctg>Ttg	p.L954L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GCGGGGCCCAGGTCAGGATCA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000261800.5	1	1	hg19	CCDS4317.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	30	203	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	29	200	0	58	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999337	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150947261	150947261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947261C>T	ENST00000261800.5	-	1	1244	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CAACCCAGTTCGAGCATTAAG	0.537000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294508	0.23564	.	.	ENSG00000086570	ENST00000261800	T	0.60920	0.15	5.59	2.72	0.32119	Cadherin (3);Cadherin-like (1);	0.430470	0.22979	N	0.053331	T	0.34454	0.0898	L	0.37466	1.105	0.09310	N	1	P	0.37158	0.585	B	0.25140	0.058	T	0.13656	-1.0501	10	0.13108	T	0.6	.	6.1698	0.20410	0.0:0.4562:0.0:0.5437	.	411	Q9NYQ8	FAT2_HUMAN	Q	411	ENSP00000261800:R411Q	ENSP00000261800:R411Q	R	-	2	0	FAT2	150927454	1.000000	0.71417	0.414000	0.26521	0.891000	0.51852	1.743000	0.38258	0.675000	0.31264	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	88	292	1	70	0	0	0	1	1	70	2		0	0	0	0	0	2	1	1	84	290	1	70	18								-4.300479	1	1	121412	1	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150947892	150947892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947892C>T	ENST00000261800.5	-	1	613	c.601G>A	c.(601-603)Ggt>Agt	p.G201S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GTGACCACACCGCTGGTGGGA	0.532000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847465	0.91277	.	.	ENSG00000086570	ENST00000261800	D	0.91407	-2.84	5.61	5.61	0.85477	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000005	D	0.97480	0.9175	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98616	1.0665	10	0.87932	D	0	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	201	Q9NYQ8	FAT2_HUMAN	S	201	ENSP00000261800:G201S	ENSP00000261800:G201S	G	-	1	0	FAT2	150928085	1.000000	0.71417	0.186000	0.23195	0.863000	0.49368	7.755000	0.85180	2.643000	0.89663	0.555000	0.69702	GGT		TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	44	372	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	44	366	0	82	2								-2.522914	1	1	121412	5	41	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.930000	1.000000	1.000000	0.996278	0.990000	1	9.900000e-01	1
FAT2	2196	broad.mit.edu	37	5	150948345	150948345	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150948345T>C	ENST00000261800.5	-	1	160	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		TCCACATAGGTCTTGGGAGAA	0.502000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547644	0.86022	.	.	ENSG00000086570	ENST00000261800	T	0.72051	-0.62	5.36	5.36	0.76844	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.82195	0.4984	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	P	0.58266	0.836	D	0.85066	0.0937	10	0.66056	D	0.02	.	15.3536	0.74409	0.0:0.0:0.0:1.0	.	50	Q9NYQ8	FAT2_HUMAN	A	50	ENSP00000261800:T50A	ENSP00000261800:T50A	T	-	1	0	FAT2	150928538	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.975000	0.88055	2.023000	0.59567	0.459000	0.35465	ACC		TCGA-IB-7651-01A-11D-2154-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	147	624	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1	143	616	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
G3BP1	10146	broad.mit.edu	37	5	151166218	151166218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151166218C>T	ENST00000394123.3	+	2	182	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1			29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		GCTGGTCGGGCGGGAATTTGT	0.468000																								0							SO:0001583	missense			ENST00000394123.3	1	1	hg19	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374603	0.82573	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	T;T	0.71103	-0.54;-0.54	5.05	3.25	0.37280	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.45352	1.415	0.80722	D	1	D;B	0.89917	1.0;0.151	D;B	0.69824	0.966;0.02	T	0.76323	-0.3001	10	0.72032	D	0.01	-12.1306	11.0913	0.48117	0.0:0.8489:0.0:0.1511	.	13;13	E5RJU8;Q13283	.;G3BP1_HUMAN	W	13	ENSP00000377681:R13W;ENSP00000348578:R13W	ENSP00000274596:R13W	R	+	1	2	G3BP1	151146411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.519000	0.60517	0.641000	0.30601	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	1	0	1	53	566	0	154	1	1	38	295	0	154	2		0	0	0	0	0	2	1	1	53	544	0	152	2								-13.369580	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.770000	1.000000	1.000000	0.961144	0.990000	1	8.900000e-01	1
G3BP1	10146	broad.mit.edu	37	5	151175110	151175110	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151175110A>C	ENST00000394123.3	+	6	658	c.513A>C	c.(511-513)ggA>ggC	p.G171G	G3BP1_ENST00000356245.3_Silent_p.G171G|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1			29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		ATGATTCTGGAACTTTCTATG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000394123.3	1	1	hg19	CCDS4319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	1	0	1	92	412	0	97	1	1	85	242	0	97	2		0	0	0	0	0	2	1	1	92	406	0	96	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
G3BP1	10146	broad.mit.edu	37	5	151183461	151183461	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151183461G>T	ENST00000394123.3	+	12	1355	c.1210G>T	c.(1210-1212)Ggt>Tgt	p.G404C	G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C|G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1			29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		CATGTTCAGAGGTGAGGTCCG	0.502000																								0							SO:0001583	missense			ENST00000394123.3	1	1	hg19	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223942	0.58668	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.80304	-1.24;-1.36;-1.24	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.046297	0.85682	D	0.000000	T	0.80884	0.4709	L	0.60455	1.87	0.80722	D	1	P	0.38420	0.63	B	0.38616	0.277	T	0.82744	-0.0306	10	0.87932	D	0	0.4932	19.7859	0.96437	0.0:0.0:1.0:0.0	.	404	Q13283	G3BP1_HUMAN	C	404;222;404;246	ENSP00000377681:G404C;ENSP00000445035:G222C;ENSP00000348578:G404C	ENSP00000274596:G246C	G	+	1	0	G3BP1	151163654	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.018000	0.93657	2.746000	0.94184	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	1	0	1	29	401	0	73	1	9.999999e-01	51	323	0	73	2		0	0	0	0	0	2	1	1	29	391	0	71	2								-3.017774	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.810000	0.550000	1.000000	1.000000	0.820200	0.810000	0	6.700000e-01	1
GLRA1	2741	broad.mit.edu	37	5	151208548	151208548	+	Silent	SNP	G	G	A	rs17112272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151208548G>A	ENST00000455880.2	-	8	1279	c.993C>T	c.(991-993)gcC>gcT	p.A331A	GLRA1_ENST00000545569.1_Silent_p.A248A|GLRA1_ENST00000274576.4_Silent_p.A331A			P23415	GLRA1_HUMAN	glycine receptor, alpha 1			23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAAGTTAACGGCAGCATATT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000455880.2	1	0	hg19	CCDS54942.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1	1	0	1	151	559	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1	150	543	0	133	2								-2.649871	1	1	121412	174	57	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NMUR2	56923	broad.mit.edu	37	5	151771975	151771975	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771975A>C	ENST00000255262.3	-	4	1190	c.1025T>G	c.(1024-1026)aTc>aGc	p.I342S		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2			44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		GAAAGAAGAGATCACATTCTG	0.527000																								0							SO:0001583	missense			ENST00000255262.3	1	1	hg19	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	A	8.584	0.883000	0.17467	.	.	ENSG00000132911	ENST00000255262	T	0.39056	1.1	4.79	3.61	0.41365	.	0.209202	0.33005	N	0.005396	T	0.39145	0.1067	L	0.56769	1.78	0.38254	D	0.941691	B	0.17465	0.022	B	0.10450	0.005	T	0.39035	-0.9633	10	0.87932	D	0	-24.3878	10.7901	0.46428	0.8405:0.1595:0.0:0.0	.	342	Q9GZQ4	NMUR2_HUMAN	S	342	ENSP00000255262:I342S	ENSP00000255262:I342S	I	-	2	0	NMUR2	151752168	1.000000	0.71417	0.818000	0.32626	0.118000	0.20060	3.330000	0.52068	0.771000	0.33359	-0.644000	0.03951	ATC		TCGA-IB-7651-01A-11D-2154-08	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	1	0	1	118	476	0	109	0	0	1	0	0	109	2		0	0	0	0	0	2	1	1	116	462	0	104	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NMUR2	56923	broad.mit.edu	37	5	151784223	151784223	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151784223G>A	ENST00000255262.3	-	1	617	c.452C>T	c.(451-453)cCg>cTg	p.P151L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	p.P151R(1)		44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		GGCGCGGAACGGGTGTAGGAT	0.642000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000255262.3	1	1	hg19	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545940	0.86022	.	.	ENSG00000132911	ENST00000255262	T	0.61274	0.12	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.88036	0.6329	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93720	0.7032	10	0.87932	D	0	-21.6404	18.0632	0.89383	0.0:0.0:1.0:0.0	.	151	Q9GZQ4	NMUR2_HUMAN	L	151	ENSP00000255262:P151L	ENSP00000255262:P151L	P	-	2	0	NMUR2	151764416	1.000000	0.71417	0.946000	0.38457	0.607000	0.37147	9.507000	0.97996	2.502000	0.84385	0.591000	0.81541	CCG		TCGA-IB-7651-01A-11D-2154-08	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	1	0	1	94	398	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	91	393	0	67	2								-2.813049	1	1	121410	6	39	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIA1	2890	broad.mit.edu	37	5	152873617	152873617	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:152873617C>T	ENST00000285900.5	+	2	555	c.212C>T	c.(211-213)aCc>aTc	p.T71I	GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1			81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTTGAGATGACCTATAGATGT	0.458000																								0							SO:0001583	missense			ENST00000285900.5	1	1	hg19	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437375	0.43224	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.26067	1.97;1.76;1.97;2.58;2.56;1.97;1.97	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.206078	0.49916	D	0.000127	T	0.44829	0.1312	L	0.50333	1.59	0.51767	D	0.999932	D;D;D;D;D;P	0.60575	0.988;0.988;0.985;0.988;0.985;0.936	P;P;P;P;P;P	0.61477	0.696;0.696;0.889;0.696;0.57;0.614	T	0.34527	-0.9825	10	0.87932	D	0	.	18.3214	0.90239	0.0:1.0:0.0:0.0	.	81;81;71;81;71;71	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	I	71;71;71;71;2;2;81;81	ENSP00000285900:T71I;ENSP00000427920:T71I;ENSP00000339343:T71I;ENSP00000427864:T2I;ENSP00000442108:T2I;ENSP00000428994:T81I;ENSP00000415569:T81I	ENSP00000285900:T71I	T	+	2	0	GRIA1	152853810	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.037000	0.70956	2.548000	0.85928	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3	0	0	0	14	367	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	9.997432e-01	14	362	0	82	2								-14.116400	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.450000	0.250000	1.000000	0.440000	0.497970	0.450000	0	3.400000e-01	6.200000e-01
GRIA1	2890	broad.mit.edu	37	5	153056565	153056565	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153056565G>A	ENST00000285900.5	+	7	1216	c.873G>A	c.(871-873)gcG>gcA	p.A291A	GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000340592.5_Silent_p.A291A|GRIA1_ENST00000448073.4_Silent_p.A301A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000518783.1_Silent_p.A301A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1			81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACACCTCTGCGCTCACCTACG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000285900.5	1	1	hg19	CCDS4322.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3	1	0	1	70	237	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	1	67	231	0	66	2								-20.000000	1	1	121346	1	33	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFAP3	4238	broad.mit.edu	37	5	153433216	153433216	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153433216A>G	ENST00000436816.1	+	3	1251	c.1032A>G	c.(1030-1032)ggA>ggG	p.G344G	MFAP3_ENST00000439768.2_Silent_p.G198G|MFAP3_ENST00000322602.5_Silent_p.G344G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3			7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		ATGATATAGGATCTGCAGAAT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000436816.1	1	1	hg19	CCDS4324.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	1	0	1	121	448	0	121	1	9.999999e-01	13	74	0	121	2		0	0	0	0	0	2	1	1	120	441	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT10	55568	broad.mit.edu	37	5	153709140	153709140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153709140G>A	ENST00000297107.6	+	4	547	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N|GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10			32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		AGCTGCAACAGCAAGCGCTAC	0.572000																								0							SO:0001583	missense			ENST00000297107.6	1	1	hg19	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131167	0.21041	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59224	0.28;0.28;0.28	5.28	0.487	0.16842	.	0.370552	0.30840	N	0.008778	T	0.32010	0.0815	N	0.11892	0.195	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.06338	-1.0832	10	0.14656	T	0.56	.	9.373	0.38266	0.5571:0.0:0.4429:0.0	.	137;137;137	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	N	137	ENSP00000415210:S137N;ENSP00000297107:S137N;ENSP00000366889:S137N	ENSP00000297107:S137N	S	+	2	0	GALNT10	153689333	0.987000	0.35691	0.989000	0.46669	0.997000	0.91878	1.249000	0.32839	0.003000	0.14656	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	1	0	1	79	309	0	87	1	1	36	125	0	87	2		0	0	0	0	0	2	1	1	78	301	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GALNT10	55568	broad.mit.edu	37	5	153795488	153795488	+	Missense_Mutation	SNP	G	G	A	rs145995359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153795488G>A	ENST00000297107.6	+	11	1786	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R488H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10			32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		TGGAAATACCGCAAAGTAAGA	0.507000																								0							SO:0001583	missense			ENST00000297107.6	0	1	hg19	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056003	0.76074	6.81E-4	0.0	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.27720	1.65;1.65;1.65	5.6	5.6	0.85130	Ricin B-related lectin (1);Ricin B lectin (3);	0.168500	0.52532	D	0.000071	T	0.53061	0.1773	L	0.60455	1.87	0.58432	D	0.999996	D;D;D	0.69078	0.997;0.961;0.957	D;B;B	0.66847	0.947;0.287;0.263	T	0.47598	-0.9105	10	0.48119	T	0.1	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	488;221;550	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	H	550;488;223	ENSP00000297107:R550H;ENSP00000366889:R488H;ENSP00000366885:R223H	ENSP00000297107:R550H	R	+	2	0	GALNT10	153775681	1.000000	0.71417	0.961000	0.40146	0.889000	0.51656	7.375000	0.79646	2.627000	0.88993	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	0	0	0	15	357	0	84	1	9.244850e-01	2	106	0	84	2		0	0	0	0	0	2	1	9.998628e-01	15	351	0	84	2								-3.277487	1	1	121412	5	43	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.490000	0.280000	1.000000	0.480000	0.537081	0.490000	0	3.800000e-01	6.700000e-01
LARP1	23367	broad.mit.edu	37	5	154172210	154172210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154172210G>A	ENST00000336314.4	+	4	386	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1			33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		CAGCCTACCCGTAAACTGCCA	0.498000																								0							SO:0001583	missense			ENST00000336314.4	1	1	hg19	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629404	0.87660	.	.	ENSG00000155506	ENST00000336314;ENST00000518297	T;T	0.44083	1.87;0.93	5.93	5.06	0.68205	.	0.112447	0.64402	D	0.000012	T	0.54287	0.1849	L	0.41492	1.28	0.44956	D	0.997972	D;D	0.76494	0.997;0.999	P;D	0.66716	0.607;0.946	T	0.55921	-0.8064	10	0.54805	T	0.06	-8.0234	14.8626	0.70392	0.0686:0.0:0.9314:0.0	.	198;121	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	H	121;198	ENSP00000336721:R121H;ENSP00000428589:R198H	ENSP00000336721:R121H	R	+	2	0	LARP1	154152403	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.070000	0.76763	1.497000	0.48584	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	1	0	1	133	610	0	197	1	1	55	187	0	197	2		0	0	0	0	0	2	1	1	132	591	0	192	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARP1	23367	broad.mit.edu	37	5	154174798	154174798	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154174798T>C	ENST00000336314.4	+	8	1089	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1			33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		AAATGGATGCTGATGGTTTCC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000336314.4	1	1	hg19	CCDS4328.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	1	0	1	86	275	0	82	1	1	52	110	0	82	2		0	0	0	0	0	2	1	1	86	271	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LARP1	23367	broad.mit.edu	37	5	154179551	154179551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154179551G>A	ENST00000336314.4	+	10	1458	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	p.E555D(1)		33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		TGGATTCTGAGAACTGGATTG	0.582000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000336314.4	1	1	hg19	CCDS4328.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	1	0	0	56	220	0	49	1	1	39	159	0	49	2		0	0	0	0	0	2	1	1	56	217	0	49	2								-20.000000	1	1	121412	11	38	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF4B	285643	broad.mit.edu	37	5	154393573	154393573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393573G>A	ENST00000435029.4	+	1	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B			58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		CTTCACCTACGATTTTGTGTT	0.483000																								0							SO:0001583	missense			ENST00000435029.4	1	1	hg19	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.24	2.776280	0.49786	.	.	ENSG00000226650	ENST00000435029	D	0.82619	-1.63	1.48	1.48	0.22813	Kinesin, motor domain (4);	.	.	.	.	D	0.86598	0.5971	M	0.72894	2.215	0.58432	D	0.999999	D	0.65815	0.995	P	0.61003	0.882	D	0.85022	0.0912	9	0.46703	T	0.11	.	8.8832	0.35387	0.0:0.0:1.0:0.0	.	52	Q2VIQ3	KIF4B_HUMAN	N	52	ENSP00000387875:D52N	ENSP00000387875:D52N	D	+	1	0	KIF4B	154373766	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	6.342000	0.72982	1.138000	0.42230	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	1	53	252	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	52	250	0	56	2								-20.000000	1	0	121412	1	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF4B	285643	broad.mit.edu	37	5	154393593	154393593	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393593T>C	ENST00000435029.4	+	1	334	c.174T>C	c.(172-174)tgT>tgC	p.C58C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B			58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		TTGACCCCTGTACTGAGCAGG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000435029.4	1	1	hg19	CCDS47324.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	1	60	279	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	59	277	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF4B	285643	broad.mit.edu	37	5	154395412	154395412	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395412A>G	ENST00000435029.4	+	1	2153	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B			58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		TAGACAATGGAAGCAGAAAAA	0.398000																								0							SO:0001583	missense			ENST00000435029.4	1	1	hg19	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	16.29	3.082917	0.55861	.	.	ENSG00000226650	ENST00000435029	T	0.10860	2.83	2.54	2.54	0.30619	.	.	.	.	.	T	0.24812	0.0602	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09574	-1.0668	9	0.16420	T	0.52	.	8.5427	0.33402	1.0:0.0:0.0:0.0	.	665	Q2VIQ3	KIF4B_HUMAN	E	665	ENSP00000387875:K665E	ENSP00000387875:K665E	K	+	1	0	KIF4B	154375605	1.000000	0.71417	0.979000	0.43373	0.824000	0.46624	5.781000	0.68964	0.939000	0.37446	0.460000	0.39030	AAG		TCGA-IB-7651-01A-11D-2154-08	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	1	112	525	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	108	521	0	126	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF4B	285643	broad.mit.edu	37	5	154395477	154395477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395477G>A	ENST00000435029.4	+	1	2218	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B			58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		AATATGAGCTGCTCAAACTTG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000435029.4	1	1	hg19	CCDS47324.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	1	132	477	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	131	467	0	112	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIMD4	91937	broad.mit.edu	37	5	156381524	156381524	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156381524T>G	ENST00000274532.2	-	2	358	c.302A>C	c.(301-303)aAc>aCc	p.N101T	TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4			37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		TTCACTGGGGTTTAAGATGGT	0.493000																								0							SO:0001583	missense			ENST00000274532.2	1	1	hg19	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.415032	0.62511	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.03717	3.83;3.83	5.54	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.415179	0.23091	N	0.052024	T	0.13841	0.0335	M	0.87097	2.86	0.09310	N	1	D;D	0.53619	0.961;0.961	P;P	0.52627	0.704;0.704	T	0.07290	-1.0780	10	0.66056	D	0.02	-12.6664	10.9502	0.47325	0.0:0.074:0.0:0.926	.	101;101	B5MCL9;Q96H15	.;TIMD4_HUMAN	T	101	ENSP00000274532:N101T;ENSP00000385973:N101T	ENSP00000274532:N101T	N	-	2	0	TIMD4	156314102	0.201000	0.23410	0.019000	0.16419	0.012000	0.07955	3.545000	0.53648	0.935000	0.37341	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	0	0	1	61	264	0	73	0	3.641754e-02	0	2	0	73	2		0	0	0	0	0	2	1	1	60	262	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAVCR1	26762	broad.mit.edu	37	5	156479385	156479385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156479385C>T	ENST00000339252.3	-	3	1192	c.660G>A	c.(658-660)caG>caA	p.Q220Q	HAVCR1_ENST00000425854.1_Silent_p.Q220Q|HAVCR1_ENST00000522693.1_Silent_p.Q220Q|HAVCR1_ENST00000523175.1_Silent_p.Q220Q|HAVCR1_ENST00000544197.1_Silent_p.Q220Q	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1			28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		GTTCATGGTTCTGCCTGGGCA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000339252.3	1	0	hg19	CCDS43392.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1	1	0	0	59	646	0	158	0	3.872042e-02	1	3	0	158	2		0	0	0	0	0	2	1	1	58	635	0	158	2								-14.502350	1	1	120956	1	32	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.760000	1.000000	1.000000	0.954087	0.990000	1	8.700000e-01	1
FAM71B	153745	broad.mit.edu	37	5	156589472	156589472	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156589472T>G	ENST00000302938.4	-	2	1899	c.1804A>C	c.(1804-1806)Acc>Ccc	p.T602P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B			68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		ATGGATTTGGTTTCAAAGACG	0.498000																								0							SO:0001583	missense			ENST00000302938.4	1	1	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958315	0.53400	.	.	ENSG00000170613	ENST00000302938	T	0.04454	3.62	4.13	-3.73	0.04398	.	0.794005	0.10676	N	0.646996	T	0.05273	0.0140	L	0.53249	1.67	0.30561	N	0.764537	D	0.54964	0.969	B	0.44315	0.446	T	0.20240	-1.0281	10	0.62326	D	0.03	-3.6571	3.6906	0.08344	0.2992:0.2022:0.0:0.4986	.	602	Q8TC56	FA71B_HUMAN	P	602	ENSP00000305596:T602P	ENSP00000305596:T602P	T	-	1	0	FAM71B	156522050	0.090000	0.21635	0.945000	0.38365	0.514000	0.34195	-1.679000	0.01940	-0.765000	0.04645	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	1	0	1	97	873	0	188		0	0	0	0	188	2		0	0	0	0	0	2	1	1	95	858	0	188	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.970000	1.000000	1.000000	0.998367	0.990000	1	9.900000e-01	1
FAM71B	153745	broad.mit.edu	37	5	156590053	156590053	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156590053A>G	ENST00000302938.4	-	2	1318	c.1223T>C	c.(1222-1224)aTg>aCg	p.M408T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B			68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		TCGTTCACTCATGTAGCCTTC	0.502000																								0							SO:0001583	missense			ENST00000302938.4	1	1	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605410	0.03717	.	.	ENSG00000170613	ENST00000302938	T	0.18338	2.22	4.26	4.26	0.50523	.	0.133648	0.34828	N	0.003660	T	0.16514	0.0397	M	0.72118	2.19	0.34314	D	0.685761	B	0.26744	0.158	B	0.17433	0.018	T	0.12915	-1.0529	10	0.09590	T	0.72	-25.7394	10.3394	0.43868	1.0:0.0:0.0:0.0	.	408	Q8TC56	FA71B_HUMAN	T	408	ENSP00000305596:M408T	ENSP00000305596:M408T	M	-	2	0	FAM71B	156522631	1.000000	0.71417	0.578000	0.28575	0.030000	0.12068	3.902000	0.56310	1.853000	0.53794	0.459000	0.35465	ATG		TCGA-IB-7651-01A-11D-2154-08	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	1	0	1	87	375	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	86	370	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM71B	153745	broad.mit.edu	37	5	156592605	156592605	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156592605T>C	ENST00000302938.4	-	1	670	c.575A>G	c.(574-576)gAc>gGc	p.D192G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B			68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		GGGTGGTGCGTCCCCAGATAG	0.507000																								0							SO:0001583	missense			ENST00000302938.4	0	1	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553600	0.45487	.	.	ENSG00000170613	ENST00000302938	T	0.05925	3.37	3.8	2.65	0.31530	.	0.259848	0.26627	N	0.023337	T	0.13457	0.0326	L	0.55990	1.75	0.09310	N	1	D	0.69078	0.997	P	0.61132	0.884	T	0.03619	-1.1019	10	0.72032	D	0.01	-13.3671	5.9023	0.18974	0.0:0.1177:0.0:0.8823	.	192	Q8TC56	FA71B_HUMAN	G	192	ENSP00000305596:D192G	ENSP00000305596:D192G	D	-	2	0	FAM71B	156525183	0.079000	0.21365	0.012000	0.15200	0.001000	0.01503	1.881000	0.39638	0.828000	0.34709	-0.250000	0.11733	GAC		TCGA-IB-7651-01A-11D-2154-08	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	0	0	0	19	1355	0	368		0	0	0	0	368	2		0	0	0	0	0	2	1	9.999880e-01	19	1329	0	364	2								-3.142734	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.160000	0.090000	1.000000	0.170000	0.231958	0.160000	0	1.200000e-01	2.200000e-01
ITK	3702	broad.mit.edu	37	5	156635904	156635904	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156635904A>C	ENST00000422843.3	+	2	295	c.143A>C	c.(142-144)aAg>aCg	p.K48T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase			70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	Pazopanib(DB06589)	CCACAGAAGAAGCGCACGCTG	0.433000			T	SYK	peripheral T-cell lymphoma								Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0							SO:0001583	missense			ENST00000422843.3	1	1	hg19	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627245	0.66901	.	.	ENSG00000113263	ENST00000422843	D	0.93488	-3.23	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.71206	2.165	0.51767	D	0.999931	D	0.69078	0.997	D	0.63793	0.918	D	0.95208	0.8323	10	0.72032	D	0.01	.	9.629	0.39768	0.844:0.0:0.0:0.156	.	48	Q08881	ITK_HUMAN	T	48	ENSP00000398655:K48T	ENSP00000398655:K48T	K	+	2	0	ITK	156568482	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.514000	0.67043	1.989000	0.58080	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2	1	0	1	21	128	0	38	0	7.161561e-01	0	17	0	38	2		0	0	0	0	0	2	1	9.999974e-01	20	121	0	38	2								-12.217320	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999151	0.990000	1	9.900000e-01	1
CYFIP2	26999	broad.mit.edu	37	5	156741989	156741989	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156741989C>A	ENST00000521420.1	+	12	1256	c.1165C>A	c.(1165-1167)Ctg>Atg	p.L389M	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M|CYFIP2_ENST00000347377.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L340M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M					cytoplasmic FMR1 interacting protein 2			38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		CTCTTGGAAGCTGGTTCATCC	0.468000																								0							SO:0001583	missense			ENST00000521420.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.7	4.558899	0.86231	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.91	D;D;D;D;D;D	0.85130	0.986;0.992;0.997;0.995;0.991;0.976	T	0.67337	-0.5696	10	0.62326	D	0.03	-15.5213	19.3628	0.94448	0.0:1.0:0.0:0.0	.	279;219;389;415;415;415	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	M	415;219;389;415;415;340;89	ENSP00000325817:L415M;ENSP00000428009:L219M;ENSP00000430904:L389M;ENSP00000313567:L415M;ENSP00000366799:L415M;ENSP00000444645:L340M;ENSP00000403793:L89M	ENSP00000325817:L415M	L	+	1	2	CYFIP2	156674567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.276000	0.51646	2.579000	0.87056	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	0	0	0	8	34	0	9	0	9.616511e-01	0	28	0	9	2		0	0	0	0	0	2	1	9.909316e-01	7	34	0	9	2								-8.578756	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.970000	1.000000	1.000000	0.996154	0.990000	1	9.900000e-01	1
CYFIP2	26999	broad.mit.edu	37	5	156746841	156746841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746841G>A	ENST00000521420.1	+	13	1441	c.1350G>A	c.(1348-1350)agG>agA	p.R450R	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000347377.6_Silent_p.R476R|CYFIP2_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000522463.1_Silent_p.R280R					cytoplasmic FMR1 interacting protein 2			38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		AGGCCATCAGGAACACCATCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000521420.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	1	0	0	30	539	0	108	1	6.864543e-01	5	39	0	108	2		0	0	0	0	0	2	1	1	29	521	0	108	2								-5.718787	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.630000	0.430000	1.000000	0.610000	0.664539	0.630000	0	5.200000e-01	7.900000e-01
CYFIP2	26999	broad.mit.edu	37	5	156746871	156746871	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746871C>T	ENST00000521420.1	+	13	1471	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000347377.6_Silent_p.F486F|CYFIP2_ENST00000541131.1_Silent_p.F411F|CYFIP2_ENST00000377576.3_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F					cytoplasmic FMR1 interacting protein 2			38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		TGCAGGACTTCGCCCAGGTGA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000521420.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	1	0	0	123	614	0	157	0	9.968130e-01	0	45	0	157	2		0	0	0	0	0	2	1	1	122	601	0	152	2								-20.000000	1	0	121406	1	35	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYFIP2	26999	broad.mit.edu	37	5	156747679	156747679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156747679C>T	ENST00000521420.1	+	14	1553	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*					cytoplasmic FMR1 interacting protein 2			38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		ACAGGCAATTCGAAAGACCAT	0.532000																								0							SO:0001587	stop_gained			ENST00000521420.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	42	9.747593	0.99253	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.64	5.64	0.86602	.	0.054754	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3411	15.3335	0.74231	0.1402:0.8597:0.0:0.0	.	.	.	.	X	514;318;488;514;514;439;188	.	ENSP00000325817:R514X	R	+	1	2	CYFIP2	156680257	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.859000	0.39418	2.664000	0.90586	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	1	0	1	37	163	0	48	0	9.971879e-01	1	42	0	48	2		0	0	0	0	0	2	1	1	36	159	0	48	2								-3.487548	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NIPAL4	348938	broad.mit.edu	37	5	156890321	156890321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156890321C>A	ENST00000311946.7	+	2	559	c.443C>A	c.(442-444)gCc>gAc	p.A148D	NIPAL4_ENST00000521390.1_3'UTR|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4			22					CGACTCGTGGCCACGGGAGCC	0.597000																								0							SO:0001583	missense			ENST00000311946.7	1	1	hg19	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	2.770	-0.255790	0.05829	0.001536	0.0	ENSG00000172548	ENST00000435489;ENST00000311946	T;D	0.90563	-0.52;-2.69	4.92	2.87	0.33458	.	0.690165	0.15240	N	0.272921	D	0.83248	0.5213	L	0.28694	0.88	0.22728	N	0.998805	B;B	0.16166	0.013;0.016	B;B	0.12156	0.007;0.007	T	0.68443	-0.5407	10	0.22109	T	0.4	-6.1498	10.8222	0.46612	0.1923:0.7013:0.1064:0.0	.	148;148	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	D	148	ENSP00000406456:A148D;ENSP00000311687:A148D	ENSP00000311687:A148D	A	+	2	0	NIPAL4	156822899	0.999000	0.42202	0.758000	0.31321	0.164000	0.22412	0.741000	0.26202	1.032000	0.39892	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	1	0	1	33	205	0	39	0	2.057400e-02	0	2	0	39	2		0	0	0	0	0	2	1	1	32	203	0	36	2								-20.000000	1	1	120384	10	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999860	0.990000	1	9.900000e-01	1
ADAM19	8728	broad.mit.edu	37	5	156908832	156908832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156908832C>A	ENST00000517905.1	-	22	2714	c.2670G>T	c.(2668-2670)caG>caT	p.Q890H	ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H|ADAM19_ENST00000257527.4_Missense_Mutation_p.Q890H			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19			53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		GCCGGGACTGCTGAGGGCCAG	0.687000																								0							SO:0001583	missense			ENST00000517905.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.939|8.939	0.965465|0.965465	0.18583|0.18583	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T|.	0.01538|.	4.8;4.82;4.79|.	5.51|5.51	0.583|0.583	0.17417|0.17417	.|.	0.734758|.	0.12449|.	N|.	0.467961|.	T|T	0.23171|0.23171	0.0560|0.0560	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.28512|.	0.115;0.214|.	B;B|.	0.35688|.	0.208;0.135|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.38643|.	T|.	0.18|.	.|.	3.4723|3.4723	0.07571|0.07571	0.2793:0.3996:0.0:0.321|0.2793:0.3996:0.0:0.321	.|.	890;890|.	Q9H013-2;Q9H013|.	.;ADA19_HUMAN|.	H|I	890;892;890|461	ENSP00000257527:Q890H;ENSP00000377588:Q892H;ENSP00000428654:Q890H|.	ENSP00000257527:Q890H|.	Q|S	-|-	3|2	2|0	ADAM19|ADAM19	156841410|156841410	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.150000|-0.150000	0.10189|0.10189	-0.189000|-0.189000	0.10482|0.10482	0.561000|0.561000	0.74099|0.74099	CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	1	0	0	13	40	0	9	0	9.881779e-01	0	27	0	9	2		0	0	0	0	0	2	1	9.996871e-01	13	38	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999868	0.990000	1	9.900000e-01	1
ADAM19	8728	broad.mit.edu	37	5	156945848	156945848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156945848C>T	ENST00000517905.1	-	7	693	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ADAM19_ENST00000430702.2_De_novo_Start_InFrame|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M|ADAM19_ENST00000257527.4_Missense_Mutation_p.V217M			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19			53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		TAATCAGCCACGAGGTAAAGC	0.443000																								0							SO:0001583	missense			ENST00000517905.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.0	4.478870	0.84747	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.74315	-0.83;-0.83;-0.83	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000017	D	0.92315	0.7562	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95271	0.8377	10	0.87932	D	0	.	18.0871	0.89461	0.0:1.0:0.0:0.0	.	217	Q9H013-2	.	M	217;219;217	ENSP00000257527:V217M;ENSP00000377588:V219M;ENSP00000428654:V217M	ENSP00000257527:V217M	V	-	1	0	ADAM19	156878426	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.542000	0.73869	2.567000	0.86603	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	1	0	1	201	827	0	246	0	8.720602e-01	1	16	0	246	2		0	0	0	0	0	2	1	1	195	814	0	240	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOX30	11063	broad.mit.edu	37	5	157065339	157065339	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157065339C>T	ENST00000265007.6	-	4	2120	c.1779G>A	c.(1777-1779)caG>caA	p.Q593Q	SOX30_ENST00000519442.1_Silent_p.Q288Q|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30			23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		GGGGAGGGGGCTGGTAGACAT	0.557000													Esophageal Squamous(31;525 799 19355 21125 41744)											0							SO:0001819	synonymous_variant			ENST00000265007.6	1	1	hg19	CCDS4339.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	1	0	1	36	219	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	35	208	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
SOX30	11063	broad.mit.edu	37	5	157073693	157073693	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157073693A>G	ENST00000265007.6	-	3	1680	c.1339T>C	c.(1339-1341)Tac>Cac	p.Y447H	SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H|SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30			23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		ACCACAGAGTACGTAGGTGAG	0.368000													Esophageal Squamous(31;525 799 19355 21125 41744)											0							SO:0001583	missense			ENST00000265007.6	1	1	hg19	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777591	0.70107	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.98249	-4.82;-4.33;-4.61	5.24	5.24	0.73138	.	0.107024	0.42172	D	0.000754	D	0.97411	0.9153	N	0.24115	0.695	0.33154	D	0.546052	D;D;D	0.76494	0.999;0.998;0.996	D;P;P	0.63597	0.916;0.904;0.804	D	0.99901	1.1161	10	0.54805	T	0.06	.	14.0019	0.64437	1.0:0.0:0.0:0.0	.	142;447;447	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	H	447;447;142	ENSP00000309343:Y447H;ENSP00000265007:Y447H;ENSP00000427984:Y142H	ENSP00000265007:Y447H	Y	-	1	0	SOX30	157006271	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.993000	0.70616	2.111000	0.64477	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	1	0	1	107	455	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1	104	452	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THG1L	54974	broad.mit.edu	37	5	157161741	157161741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157161741C>T	ENST00000231198.7	+	3	770	c.526C>T	c.(526-528)Cga>Tga	p.R176*	AC026407.1_ENST00000599823.1_5'Flank	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)			13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		CCTCAGCTGGCGACAAGCAGA	0.468000																								0							SO:0001587	stop_gained			ENST00000231198.7	0	1	hg19	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	C	38	7.280306	0.98182	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	.	.	.	5.95	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.3795	14.6076	0.68493	0.5054:0.4946:0.0:0.0	.	.	.	.	X	176;51	.	ENSP00000231198:R176X	R	+	1	2	THG1L	157094319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.829000	0.48128	0.799000	0.34018	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	1	0	1	52	244	0	49	0	9.985611e-01	1	48	0	49	2		0	0	0	0	0	2	1	1	51	238	0	49	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LSM11	134353	broad.mit.edu	37	5	157178476	157178476	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157178476T>G	ENST00000286307.5	+	2	583	c.527T>G	c.(526-528)tTc>tGc	p.F176C		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated			7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		ATCCGCACTTTCAAGGGACTT	0.512000																								0							SO:0001583	missense			ENST00000286307.5	1	1	hg19	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796430	0.90453	.	.	ENSG00000155858	ENST00000286307	T	0.41400	1.0	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.141008	0.64402	D	0.000006	T	0.61464	0.2349	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63102	-0.6712	10	0.72032	D	0.01	-16.7964	16.5764	0.84681	0.0:0.0:0.0:1.0	.	176	P83369	LSM11_HUMAN	C	176	ENSP00000286307:F176C	ENSP00000286307:F176C	F	+	2	0	LSM11	157111054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.371000	0.80710	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	1	0	1	107	470	0	109	1	9.817863e-01	8	22	0	109	2		0	0	0	0	0	2	1	1	102	462	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EBF1	1879	broad.mit.edu	37	5	158223401	158223401	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158223401G>A	ENST00000313708.6	-	9	1143	c.861C>T	c.(859-861)ttC>ttT	p.F287F	EBF1_ENST00000380654.4_Silent_p.F256F|EBF1_ENST00000517373.1_Silent_p.F279F|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1		HMGA2/EBF1(2)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		ACCCATCAAAGAAATTGTCCC	0.453000			T	HMGA2	lipoma										Dom	yes		5	5q34	1879	early B-cell factor 1		M	0							SO:0001819	synonymous_variant			ENST00000313708.6	1	1	hg19	CCDS4343.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	1	0	1	81	308	0	72	0	5.901085e-01	0	9	0	72	2		0	0	0	0	0	2	1	1	78	301	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EBF1	1879	broad.mit.edu	37	5	158526367	158526367	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158526367G>A	ENST00000313708.6	-	1	402	c.120C>T	c.(118-120)aaC>aaT	p.N40N	EBF1_ENST00000380654.4_Silent_p.N40N|RP11-175K6.1_ENST00000499583.1_lincRNA|EBF1_ENST00000517373.1_Silent_p.N40N|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1		HMGA2/EBF1(2)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GCGCCGCCGTGTTGGCGTCCA	0.731000			T	HMGA2	lipoma										Dom	yes		5	5q34	1879	early B-cell factor 1		M	0							SO:0001819	synonymous_variant			ENST00000313708.6	0	1	hg19	CCDS4343.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	0	0	0	16	650	0	87	0	3.954770e-03	0	4	0	87	2		0	0	0	0	0	2	1	9.999244e-01	16	640	0	85	2								-12.858330	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.290000	0.170000	1.000000	0.290000	0.350511	0.290000	0	2.200000e-01	4.000000e-01
UBLCP1	134510	broad.mit.edu	37	5	158696032	158696032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158696032G>T	ENST00000296786.6	+	2	435	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1			9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GACCCTTACAGGAGTTCTTCC	0.383000																								0							SO:0001587	stop_gained			ENST00000296786.6	0	1	hg19	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	40	8.445000	0.98815	.	.	ENSG00000164332	ENST00000296786	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-13.2913	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000296786:G37X	G	+	1	0	UBLCP1	158628610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.434000	0.97515	2.850000	0.98022	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	1	0	1	85	366	0	77	1	9.999998e-01	17	81	0	77	2		0	0	0	0	0	2	1	1	83	361	0	77	2								-2.744291	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBLCP1	134510	broad.mit.edu	37	5	158711927	158711927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158711927G>T	ENST00000296786.6	+	11	1271	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1			9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TCTCAAAGAAGCAAGGACAGT	0.338000																								0							SO:0001583	missense			ENST00000296786.6	1	1	hg19	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046228	0.36085	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.89	5.02	0.67125	.	0.150396	0.64402	N	0.000012	T	0.45617	0.1351	L	0.31752	0.955	0.51233	D	0.999913	B	0.20780	0.048	B	0.24006	0.05	T	0.35724	-0.9777	9	0.36615	T	0.2	-15.6052	11.6009	0.51001	0.1425:0.0:0.8575:0.0	.	315	Q8WVY7	UBCP1_HUMAN	N	315	.	ENSP00000296786:K315N	K	+	3	2	UBLCP1	158644505	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.544000	0.53640	1.493000	0.48517	0.643000	0.83706	AAG		TCGA-IB-7651-01A-11D-2154-08	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	1	0	1	38	265	0	73	1	9.999962e-01	32	103	0	73	2		0	0	0	0	0	2	1	1	37	264	0	73	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999608	0.990000	1	9.900000e-01	1
IL12B	3593	broad.mit.edu	37	5	158753736	158753736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158753736G>A	ENST00000231228.2	-	2	510	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B			11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GCCACGAGGGGAGATGCCAGA	0.507000																								0							SO:0001583	missense			ENST00000231228.2	1	1	hg19	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153871	0.57259	.	.	ENSG00000113302	ENST00000231228	T	0.19806	2.12	5.64	5.64	0.86602	Immunoglobulin-like (1);	0.304673	0.35903	N	0.002906	T	0.20820	0.0501	L	0.54323	1.7	0.36907	D	0.890685	B	0.22983	0.078	B	0.22880	0.042	T	0.09271	-1.0682	10	0.08837	T	0.75	-2.4995	15.5804	0.76432	0.0:0.0:1.0:0.0	.	19	P29460	IL12B_HUMAN	S	19	ENSP00000231228:P19S	ENSP00000231228:P19S	P	-	1	0	IL12B	158686314	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.293000	0.51779	2.832000	0.97577	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	1	0	1	46	272	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	45	267	0	90	2								-19.989110	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
FBXL7	23194	broad.mit.edu	37	5	15936593	15936593	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936593G>T	ENST00000504595.1	+	4	1255	c.774G>T	c.(772-774)cgG>cgT	p.R258R	FBXL7_ENST00000329673.7_Silent_p.R246R|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.R211R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7			60					GCTTGACCCGGGAGGCCTCCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000504595.1	1	1	hg19	CCDS54833.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	1	0	1	29	174	0	44	0	8.203002e-01	0	21	0	44	2		0	0	0	0	0	2	1	1	28	169	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999664	0.990000	1	9.900000e-01	1
FBXL7	23194	broad.mit.edu	37	5	15936764	15936764	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936764C>T	ENST00000504595.1	+	4	1426	c.945C>T	c.(943-945)ggC>ggT	p.G315G	FBXL7_ENST00000329673.7_Silent_p.G303G|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.G268G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7			60					CCGACGAAGGCCTGCGCTACC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000504595.1	1	1	hg19	CCDS54833.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	1	0	1	27	140	0	32	0	7.847414e-01	0	17	0	32	2		0	0	0	0	0	2	1	1	25	137	0	31	2								-20.000000	1	1	121218	1	19	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999891	0.990000	1	9.900000e-01	1
TTC1	7265	broad.mit.edu	37	5	159437762	159437762	+	Missense_Mutation	SNP	C	C	T	rs41275307	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159437762C>T	ENST00000231238.5	+	2	337	c.227C>T	c.(226-228)gCg>gTg	p.A76V	TTC1_ENST00000522793.1_Missense_Mutation_p.A76V|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1			12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GAGCCAGGAGCGGACAAGGTT	0.453000																								0							SO:0001583	missense			ENST00000231238.5	0	1	hg19	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	C	3.366	-0.129412	0.06753	0.0	4.65E-4	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.18338	2.22;2.22	5.09	-5.92	0.02261	.	1.368040	0.04409	N	0.365678	T	0.07863	0.0197	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.30078	T	0.28	-10.0995	1.5147	0.02503	0.2707:0.3727:0.1379:0.2188	rs41275307	76	Q99614	TTC1_HUMAN	V	76	ENSP00000231238:A76V;ENSP00000429225:A76V	ENSP00000231238:A76V	A	+	2	0	TTC1	159370340	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.420000	0.07062	-1.027000	0.03325	-0.378000	0.06908	GCG		TCGA-IB-7651-01A-11D-2154-08	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	0	0	0	5	142	0	37	1	9.981834e-01	40	366	0	37	2		0	0	0	0	0	2	1	9.352136e-01	5	139	0	34	2								-7.392135	1	0	121410	32	44	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.450000	0.170000	1.000000	0.400000	0.500569	0.450000	0	2.800000e-01	7.200000e-01
PWWP2A	114825	broad.mit.edu	37	5	159546002	159546002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546002C>T	ENST00000307063.7	-	1	428	c.394G>A	c.(394-396)Gag>Aag	p.E132K	PWWP2A_ENST00000523662.1_Missense_Mutation_p.E132K|PWWP2A_ENST00000456329.3_Missense_Mutation_p.E132K	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A			5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		AGCGGCGGCTCCTCGCGCTCC	0.766000																								0							SO:0001583	missense			ENST00000307063.7	0	1	hg19	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.480504	0.44044	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.59083	1.27;1.27;0.29	3.19	2.2	0.27929	.	0.183149	0.33057	N	0.005322	T	0.37758	0.1015	N	0.22421	0.69	0.18873	N	0.999988	B;B;B	0.22146	0.039;0.065;0.065	B;B;B	0.19946	0.012;0.027;0.027	T	0.15464	-1.0436	10	0.21014	T	0.42	-3.0982	9.7697	0.40582	0.0:0.7876:0.2124:0.0	.	132;132;132	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	K	132	ENSP00000390462:E132K;ENSP00000428143:E132K;ENSP00000305151:E132K	ENSP00000305151:E132K	E	-	1	0	PWWP2A	159478580	0.003000	0.15002	0.996000	0.52242	0.832000	0.47134	0.110000	0.15437	1.782000	0.52362	0.556000	0.70494	GAG		TCGA-IB-7651-01A-11D-2154-08	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1	1	0	0	12	129	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	9.988831e-01	12	120	0	7	2								-19.999570	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.570000	1.000000	1.000000	0.918973	0.990000	1	7.700000e-01	1
PWWP2A	114825	broad.mit.edu	37	5	159546030	159546030	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546030C>T	ENST00000307063.7	-	1	400	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PWWP2A_ENST00000523662.1_Silent_p.E122E|PWWP2A_ENST00000456329.3_Silent_p.E122E	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A			5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CCGGGGGCTGCTCCGGCGGCG	0.746000																								0							SO:0001819	synonymous_variant			ENST00000307063.7	1	1	hg19	CCDS47332.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1	1	0	0	28	152	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	1	25	148	0	16	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999941	0.990000	1	9.900000e-01	1
CCNJL	79616	broad.mit.edu	37	5	159707577	159707577	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159707577A>G	ENST00000393977.3	-	3	520	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P	CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P|CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P|CCNJL_ENST00000541762.1_Missense_Mutation_p.S78P	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like			17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		AGCTGCTTGGAGGTGGTGACG	0.627000																								0							SO:0001583	missense			ENST00000393977.3	1	1	hg19	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459198	0.63401	.	.	ENSG00000135083	ENST00000393977;ENST00000257536;ENST00000519673;ENST00000541762;ENST00000520748;ENST00000505287	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.04	2.54	0.30619	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.42548	D	0.000699	T	0.28134	0.0694	L	0.55481	1.735	0.26272	N	0.978407	P;P;D	0.65815	0.899;0.943;0.995	P;P;P	0.60415	0.664;0.664;0.874	T	0.15896	-1.0421	10	0.66056	D	0.02	-19.0172	0.9414	0.01356	0.4356:0.2439:0.1795:0.141	.	79;79;79	E7EN43;B4DZA8;Q8IV13	.;.;CCNJL_HUMAN	P	79;79;79;78;114;124	ENSP00000377547:S79P;ENSP00000257536:S79P;ENSP00000427960:S79P;ENSP00000446367:S78P;ENSP00000428836:S114P;ENSP00000444778:S124P	ENSP00000257536:S79P	S	-	1	0	CCNJL	159640155	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.353000	0.34045	0.891000	0.36235	0.454000	0.30748	TCC		TCGA-IB-7651-01A-11D-2154-08	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	0	0	0	21	558	0	92	0	4.351267e-03	0	3	0	92	2		0	0	0	0	0	2	1	9.999968e-01	20	544	0	90	2								-3.942391	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.440000	0.270000	1.000000	0.420000	0.485611	0.440000	0	3.500000e-01	5.700000e-01
CCNJL	79616	broad.mit.edu	37	5	159738895	159738895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159738895G>A	ENST00000393977.3	-	2	321	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CCNJL_ENST00000505287.2_Intron|CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000519673.1_Silent_p.A12A|CCNJL_ENST00000257536.7_Silent_p.A12A|CCNJL_ENST00000541762.1_Silent_p.A11A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like			17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GGACGTCCGAGGCGACGCGCC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000393977.3	1	1	hg19	CCDS4350.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	1	0	1	74	399	0	83	0	2.521008e-02	0	2	0	83	2		0	0	0	0	0	2	1	1	74	394	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C5orf54	0	broad.mit.edu	37	5	159821708	159821708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159821708G>A	ENST00000408953.3	-	2	1297	c.790C>T	c.(790-792)Cct>Tct	p.P264S	C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	NM_022090.3	NP_071373.2						12					acgatatgaggtatctctttt	0.408000																								0							SO:0001583	missense			ENST00000408953.3	1	1	hg19	CCDS34283.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.56	2.274400	0.40194	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.19394	2.15;2.15	2.84	2.84	0.33178	.	.	.	.	.	T	0.35278	0.0926	L	0.47190	1.495	0.31834	N	0.62442	D	0.89917	1.0	D	0.91635	0.999	T	0.25502	-1.0130	9	0.44086	T	0.13	.	9.3899	0.38367	0.0:0.0:1.0:0.0	.	264	Q8IZ13	CE054_HUMAN	S	264	ENSP00000386184:P264S;ENSP00000428831:P264S	ENSP00000386184:P264S	P	-	1	0	C5orf54	159754286	0.987000	0.35691	0.974000	0.42286	0.746000	0.42486	3.072000	0.50049	1.916000	0.55485	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1	1	0	1	126	534	0	106	1	8.619489e-01	3	14	0	106	2		0	0	0	0	0	2	1	1	126	527	0	105	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLU7	10569	broad.mit.edu	37	5	159834607	159834607	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159834607G>A	ENST00000297151.4	-	11	1388	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)			20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CTTGTCATAGGCTTCCCATGC	0.388000																								0							SO:0001583	missense			ENST00000297151.4	1	1	hg19	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646700	0.87958	.	.	ENSG00000164609	ENST00000297151	T	0.49432	0.78	6.17	3.44	0.39384	Pre-mRNA splicing Prp18-interacting factor (1);	0.329212	0.35739	N	0.003007	T	0.67059	0.2853	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67825	-0.5570	10	0.87932	D	0	-29.9888	9.9057	0.41375	0.1249:0.1156:0.7594:0.0	.	334	O95391	SLU7_HUMAN	V	334	ENSP00000297151:A334V	ENSP00000297151:A334V	A	-	2	0	SLU7	159767185	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.378000	0.97191	0.480000	0.27534	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	1	0	1	25	148	0	48	1	1	59	154	0	48	2		0	0	0	0	0	2	1	9.999999e-01	24	143	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999699	0.990000	1	9.900000e-01	1
SLU7	10569	broad.mit.edu	37	5	159835352	159835352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159835352C>T	ENST00000297151.4	-	8	1190	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)			20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		AATATCTTCTCGAATCCTGAG	0.368000																								0							SO:0001583	missense			ENST00000297151.4	1	1	hg19	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675574	0.96764	.	.	ENSG00000164609	ENST00000297151	T	0.72282	-0.64	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88867	0.3330	10	0.87932	D	0	-22.3357	20.8598	0.99761	0.0:1.0:0.0:0.0	.	268	O95391	SLU7_HUMAN	Q	268	ENSP00000297151:R268Q	ENSP00000297151:R268Q	R	-	2	0	SLU7	159767930	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.412000	0.80091	2.937000	0.99478	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	1	0	1	41	265	0	53	1	1	37	150	0	53	2		0	0	0	0	0	2	1	1	39	261	0	52	2								-3.018431	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999918	0.990000	1	9.900000e-01	1
ATP10B	23120	broad.mit.edu	37	5	160047706	160047706	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160047706G>A	ENST00000327245.5	-	15	2910	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B			75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CCAGGATGTCGCCCTGGTCCC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000327245.5	1	1	hg19	CCDS43394.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	0	0	1	58	242	1	68	1	8.213188e-01	8	14	1	68	3		0	0	0	0	0	2	1	1	57	235	1	68	15								-3.546875	1	1	121250	2	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP10B	23120	broad.mit.edu	37	5	160063213	160063213	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160063213G>T	ENST00000327245.5	-	11	1950	c.1104C>A	c.(1102-1104)ttC>ttA	p.F368L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B			75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TCATTGTGAGGAACATGTAGA	0.488000																								0							SO:0001583	missense			ENST00000327245.5	1	1	hg19	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372293	0.82573	.	.	ENSG00000118322	ENST00000327245	D	0.87966	-2.32	5.18	0.379	0.16213	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	M	0.69185	2.1	0.58432	D	0.999991	D;P;D;D	0.89917	1.0;0.914;1.0;0.999	D;P;D;D	0.97110	1.0;0.868;0.999;0.996	D	0.87226	0.2257	9	.	.	.	.	8.8292	0.35074	0.485:0.0:0.515:0.0	.	412;368;340;368	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	L	368	ENSP00000313600:F368L	.	F	-	3	2	ATP10B	159995791	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.951000	0.40333	0.208000	0.20626	0.555000	0.69702	TTC		TCGA-IB-7651-01A-11D-2154-08	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	1	0	1	54	234	0	70	1	8.284806e-01	4	12	0	70	2		0	0	0	0	0	2	1	1	54	230	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRB2	2561	broad.mit.edu	37	5	160721349	160721349	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160721349G>A	ENST00000393959.1	-	10	1277	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	GABRB2_ENST00000517901.1_Silent_p.D325D|GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000353437.6_Silent_p.D388D|GABRB2_ENST00000274547.2_Silent_p.D426D|GABRB2_ENST00000520240.1_Silent_p.D388D			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2			26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTCTGGGGTCTCCAAGTC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000393959.1	1	1	hg19	CCDS4355.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1	1	0	1	98	368	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	97	365	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRB2	2561	broad.mit.edu	37	5	160757956	160757956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160757956G>A	ENST00000393959.1	-	8	1010	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRB2_ENST00000517901.1_Silent_p.R274R|GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000353437.6_Silent_p.R337R|GABRB2_ENST00000274547.2_Silent_p.R337R|GABRB2_ENST00000520240.1_Silent_p.R337R			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2			26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTCTTTTGGCGTTGGGGCC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000393959.1	1	1	hg19	CCDS4355.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1	1	0	1	119	539	0	117		0	0	0	0	117	2		0	0	0	0	0	2	1	1	118	535	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MARCH11	441061	broad.mit.edu	37	5	16177968	16177968	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16177968C>T	ENST00000332432.8	-	2	759	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	RP11-19O2.2_ENST00000509037.1_RNA|MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11			20					CCCATCACATCGGCAGGGGTT	0.418000																								0							SO:0001583	missense			ENST00000332432.8	1	1	hg19	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309146	0.95629	.	.	ENSG00000183654	ENST00000332432	T	0.55234	0.53	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.56097	U	0.000033	T	0.70413	0.3221	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71196	-0.4664	10	0.72032	D	0.01	-5.0254	19.7964	0.96487	0.0:1.0:0.0:0.0	.	187	A6NNE9	MARHB_HUMAN	Q	187	ENSP00000333181:R187Q	ENSP00000333181:R187Q	R	-	2	0	MARCH11	16230968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.731000	0.84895	2.702000	0.92279	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	1	0	1	44	210	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1	44	208	0	64	2								-3.294618	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HMMR	3161	broad.mit.edu	37	5	162891738	162891738	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:162891738A>T	ENST00000358715.3	+	3	191	c.155A>T	c.(154-156)cAa>cTa	p.Q52L	HMMR_ENST00000432118.2_Intron|HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L|HMMR_ENST00000393915.4_Missense_Mutation_p.Q52L			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)			23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Hyaluronan(DB08818)	GAATCTAAACAAAATCTTAAT	0.343000																								0							SO:0001583	missense			ENST00000358715.3	1	1	hg19	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756322	0.31137	.	.	ENSG00000072571	ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000358715	T;T;T	0.09163	3.01;3.04;3.04	5.0	3.82	0.43975	.	0.570850	0.18749	N	0.132230	T	0.13157	0.0319	N	0.24115	0.695	0.30261	N	0.793177	P;P;P	0.52692	0.955;0.902;0.902	P;B;P	0.53861	0.736;0.442;0.523	T	0.03077	-1.1075	10	0.59425	D	0.04	-14.182	9.073	0.36504	0.8144:0.1856:0.0:0.0	.	52;52;52	O75330-3;O75330-2;O75330	.;.;HMMR_HUMAN	L	52	ENSP00000185942:Q52L;ENSP00000377492:Q52L;ENSP00000351554:Q52L	ENSP00000185942:Q52L	Q	+	2	0	HMMR	162824316	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	2.570000	0.45981	0.848000	0.35191	-0.316000	0.08728	CAA		TCGA-IB-7651-01A-11D-2154-08	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	1	0	1	57	207	0	57	1	8.362616e-01	3	11	0	57	2		0	0	0	0	0	2	1	1	57	202	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000274203.9_Silent_p.I1369I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	p.I2012I(1)		86					CATCGACCACGATCTTATACG	0.478000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000513610.1	1	1	hg19	CCDS54834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1	87	556	0	151	1	9.999886e-01	18	86	0	151	2		0	0	0	0	0	2	1	1	87	548	0	150	2								-20.000000	1	1	120910	1	32	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MYO10	4651	broad.mit.edu	37	5	16671030	16671030	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16671030G>T	ENST00000513610.1	-	39	5942	c.5488C>A	c.(5488-5490)Ctt>Att	p.L1830I	MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X			86					AGGGCAGCAAGAACCTGGAGG	0.572000																								0							SO:0001583	missense			ENST00000513610.1	1	1	hg19	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939936	0.52972	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.94411	0.8202	M	0.85859	2.78	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.94752	0.7928	9	0.72032	D	0.01	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	709;1470;1830	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1830;1169;1187;1169;1187	ENSP00000421280:L1830I;ENSP00000425051:L1169I;ENSP00000274203:L1187I;ENSP00000421170:L1169I;ENSP00000391106:L1187I	ENSP00000274203:L1187I	L	-	1	0	MYO10	16724030	1.000000	0.71417	0.151000	0.22473	0.319000	0.28217	4.901000	0.63259	2.586000	0.87340	0.563000	0.77884	CTT		TCGA-IB-7651-01A-11D-2154-08	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1	25	142	0	38	1	9.999978e-01	32	96	0	38	2		0	0	0	0	0	2	1	9.999999e-01	25	137	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999606	0.990000	1	9.900000e-01	1
MYO10	4651	broad.mit.edu	37	5	16673839	16673839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16673839G>A	ENST00000513610.1	-	36	5578	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_ENST00000505695.1_Silent_p.G1047G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000274203.9_Silent_p.G1065G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X			86					AGGAGCCGCCGCCATGGCAAT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000513610.1	1	1	hg19	CCDS54834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1	36	171	0	35	1	9.999927e-01	17	73	0	35	2		0	0	0	0	0	2	1	1	36	169	0	35	2								-19.905840	1	1	120926	3	36	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
MYO10	4651	broad.mit.edu	37	5	16689992	16689992	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16689992G>A	ENST00000513610.1	-	28	4291	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	MYO10_ENST00000505695.1_Silent_p.I618I|MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000274203.9_Silent_p.I636I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X			86					TAATGATGTCGATCCCATTCT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000513610.1	1	1	hg19	CCDS54834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1	32	180	0	48	1	9.999340e-01	21	66	0	48	2		0	0	0	0	0	2	1	1	30	177	0	48	2								-3.159708	1	1	121002	30	48	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999906	0.990000	1	9.900000e-01	1
MYO10	4651	broad.mit.edu	37	5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16694613C>T	ENST00000513610.1	-	27	4121	c.3667G>A	c.(3667-3669)Ggg>Agg	p.G1223R	MYO10_ENST00000505695.1_Missense_Mutation_p.G562R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000274203.9_Missense_Mutation_p.G580R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	p.G1223R(5)		86					GAGCCCCCCCCTTTTTTGTGG	0.557000																								5	Substitution - Missense(5)						SO:0001583	missense			ENST00000513610.1	1	1	hg19	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626178	0.66901	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.04502	3.61;3.61;3.61;3.61;3.61	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.28433	0.0703	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.04752	-1.0929	9	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	102;864;1223	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	R	1223;562;580;562;580	ENSP00000421280:G1223R;ENSP00000425051:G562R;ENSP00000274203:G580R;ENSP00000421170:G562R;ENSP00000391106:G580R	ENSP00000274203:G580R	G	-	1	0	MYO10	16747613	1.000000	0.71417	0.355000	0.25773	0.060000	0.15804	7.818000	0.86416	2.575000	0.86900	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1	86	483	0	119	1	9.997392e-01	13	56	0	119	2		0	0	0	0	0	2	1	1	79	482	0	115	2								-2.341724	0	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO10	4651	broad.mit.edu	37	5	16701471	16701471	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16701471G>A	ENST00000513610.1	-	25	3487	c.3033C>T	c.(3031-3033)agC>agT	p.S1011S	MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Silent_p.S350S|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000274203.9_Silent_p.S368S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X			86					GGCCGTGCTCGCTGGGGTTGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000513610.1	1	1	hg19	CCDS54834.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1	25	183	0	43	1	9.994306e-01	15	74	0	43	2		0	0	0	0	0	2	1	9.999999e-01	22	181	0	43	2								-3.076404	1	1	121218	4	36	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.920000	1.000000	1.000000	0.995744	0.990000	1	9.900000e-01	1
MYO10	4651	broad.mit.edu	37	5	16766233	16766233	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16766233A>G	ENST00000513610.1	-	11	1589	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X			86					CCCCTGAGGAACATTGATCTC	0.488000																								0							SO:0001583	missense			ENST00000513610.1	1	1	hg19	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873472	0.51695	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.86694	-2.16;-2.16	5.05	1.2	0.21068	Myosin head, motor domain (2);	.	.	.	.	T	0.72724	0.3496	N	0.12471	0.22	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.002;0.007	T	0.59204	-0.7498	9	0.48119	T	0.1	.	6.273	0.20965	0.2545:0.1003:0.0:0.6452	.	20;379	Q69YP8;Q9HD67	.;MYO10_HUMAN	L	379;390	ENSP00000421280:F379L;ENSP00000421309:F390L	ENSP00000421280:F379L	F	-	1	0	MYO10	16819233	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.471000	0.45127	-0.042000	0.13535	0.482000	0.46254	TTC		TCGA-IB-7651-01A-11D-2154-08	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	1	0	1	30	138	0	34	1	9.998515e-01	15	52	0	34	2		0	0	0	0	0	2	1	1	27	133	0	34	2								-18.059210	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
WWC1	23286	broad.mit.edu	37	5	167812302	167812302	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167812302G>A	ENST00000265293.4	+	3	818	c.316G>A	c.(316-318)Gct>Act	p.A106T	WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1			43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GGCCCAGGAGGCTCTGAGTGC	0.562000																								0							SO:0001583	missense			ENST00000265293.4	1	1	hg19	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.630000|5.630000	0.96671|0.96671	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895	T;T|.	0.06449|.	3.3;3.3|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.74230|0.74230	0.3689|0.3689	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.502;1.0;0.995|.	B;D;D|.	0.87578|.	0.28;0.998;0.962|.	T|T	0.71300|0.71300	-0.4634|-0.4634	10|5	0.42905|.	T|.	0.14|.	.|.	19.6523|19.6523	0.95822|0.95822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106;12;106|.	Q8IX03-2;B3KX05;Q8IX03|.	.;.;KIBRA_HUMAN|.	T|D	106|67	ENSP00000265293:A106T;ENSP00000427772:A106T|.	ENSP00000265293:A106T|.	A|G	+|+	1|2	0|0	WWC1|WWC1	167744880|167744880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.576000|9.576000	0.98192|0.98192	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GCT|GGC		TCGA-IB-7651-01A-11D-2154-08	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1	53	265	0	83	1	1	96	149	0	83	2		0	0	0	0	0	2	1	1	51	260	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WWC1	23286	broad.mit.edu	37	5	167833206	167833206	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167833206C>T	ENST00000265293.4	+	6	1096	c.594C>T	c.(592-594)atC>atT	p.I198I	WWC1_ENST00000521089.1_Silent_p.I198I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1			43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CTCCTAGAATCGATAAGAAAA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000265293.4	1	1	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317446	0.23908	.	.	ENSG00000113645	ENST00000393895	.	.	.	5.45	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0813	0.09927	0.0:0.472:0.0:0.528	.	.	.	.	X	160	.	.	R	+	1	2	WWC1	167765784	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.431000	0.21444	1.284000	0.44531	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1	96	453	0	133	1	1	69	119	0	133	2		0	0	0	0	0	2	1	1	94	442	0	132	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WWC1	23286	broad.mit.edu	37	5	167850797	167850797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167850797G>A	ENST00000265293.4	+	11	2036	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1			43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GACCCAGAAGGCAGAGGGAGG	0.657000																								0							SO:0001583	missense			ENST00000265293.4	1	1	hg19	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.707|0.707	-0.788550|-0.788550	0.02884|0.02884	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.39229|.	1.09;1.09|.	5.22|5.22	2.48|2.48	0.30137|0.30137	.|.	0.522413|.	0.20287|.	N|.	0.095337|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.04043|0.04043	-0.29|-0.29	0.20403|0.20403	N|N	0.999901|0.999901	B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001|.	B;B;B;B|.	0.12156|.	0.001;0.007;0.007;0.002|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.07990|.	T|.	0.79|.	.|.	7.9508|7.9508	0.30014|0.30014	0.4403:0.0:0.5597:0.0|0.4403:0.0:0.5597:0.0	.|.	512;418;418;512|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	T|D	512|473;288	ENSP00000265293:A512T;ENSP00000427772:A512T|.	ENSP00000265293:A512T|.	A|G	+|+	1|2	0|0	WWC1|WWC1	167783375|167783375	0.966000|0.966000	0.33281|0.33281	0.439000|0.439000	0.26833|0.26833	0.013000|0.013000	0.08279|0.08279	1.428000|1.428000	0.34892|0.34892	0.605000|0.605000	0.29947|0.29947	0.655000|0.655000	0.94253|0.94253	GCA|GGC		TCGA-IB-7651-01A-11D-2154-08	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1	53	273	0	54	1	1	90	122	0	54	2		0	0	0	0	0	2	1	1	52	267	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WWC1	23286	broad.mit.edu	37	5	167882444	167882444	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167882444C>A	ENST00000265293.4	+	19	3244	c.2742C>A	c.(2740-2742)tcC>tcA	p.S914S	WWC1_ENST00000521089.1_Silent_p.S914S|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1			43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GCACCCCGTCCCAGGGGCCAT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000265293.4	1	1	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.291924	0.01375	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.46	-2.98	0.05513	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	.	0.9385	0.01350	0.2684:0.2673:0.2657:0.1986	.	.	.	.	T	876;691	.	.	P	+	1	0	WWC1	167815022	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.200000	0.01237	-0.511000	0.06514	-0.768000	0.03414	CCA		TCGA-IB-7651-01A-11D-2154-08	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1	164	710	0	172	1	1	116	141	0	172	2		0	0	0	0	0	2	1	1	164	699	0	172	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WWC1	23286	broad.mit.edu	37	5	167891807	167891807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167891807C>T	ENST00000265293.4	+	21	3492	c.2990C>T	c.(2989-2991)gCg>gTg	p.A997V	WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1			43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		GACCTGCAGGCGACAAGAACC	0.612000																								0							SO:0001583	missense			ENST00000265293.4	1	1	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036953	0.54896	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.51325	0.71;0.71;0.71	5.14	5.14	0.70334	.	0.060571	0.64402	D	0.000003	T	0.63651	0.2529	L	0.46819	1.47	0.58432	D	0.999991	D;B	0.89917	1.0;0.45	D;B	0.80764	0.994;0.046	T	0.63435	-0.6638	10	0.48119	T	0.1	.	18.6288	0.91352	0.0:1.0:0.0:0.0	.	1003;997	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	V	997;1003;329	ENSP00000265293:A997V;ENSP00000427772:A1003V;ENSP00000428084:A329V	ENSP00000265293:A997V	A	+	2	0	WWC1	167824385	1.000000	0.71417	0.952000	0.39060	0.064000	0.16182	4.558000	0.60789	2.405000	0.81733	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	1	0	1	55	322	0	74	1	1	112	211	0	74	2		0	0	0	0	0	2	1	1	54	314	0	74	2								-20.000000	1	1	121412	15	42	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RARS	5917	broad.mit.edu	37	5	167922434	167922434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167922434G>A	ENST00000231572.3	+	6	748	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	RARS_ENST00000538719.1_Missense_Mutation_p.V26M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase			22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		AGGGTATGACGTGCTCAGGTA	0.408000																								0							SO:0001583	missense			ENST00000231572.3	1	1	hg19	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573133	0.86542	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.76709	-1.04;-0.81	5.03	5.03	0.67393	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94383	0.7606	10	0.87932	D	0	-14.2961	18.4023	0.90520	0.0:0.0:1.0:0.0	.	232	P54136	SYRC_HUMAN	M	232;26	ENSP00000231572:V232M;ENSP00000439108:V26M	ENSP00000231572:V232M	V	+	1	0	RARS	167855012	1.000000	0.71417	0.905000	0.35620	0.754000	0.42855	9.414000	0.97362	2.339000	0.79563	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	1	0	1	135	506	0	109	1	1	65	172	0	109	2		0	0	0	0	0	2	1	1	135	499	0	109	2								-20.000000	1	1	121412	8	41	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RARS	5917	broad.mit.edu	37	5	167929034	167929034	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167929034C>T	ENST00000231572.3	+	9	1035	c.981C>T	c.(979-981)gaC>gaT	p.D327D	RARS_ENST00000538719.1_Silent_p.D121D|RARS_ENST00000520421.1_3'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase			22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		ATGCATTGGACGTCTCTTTAA	0.308000																								0							SO:0001819	synonymous_variant			ENST00000231572.3	1	1	hg19	CCDS4367.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	1	0	0	32	448	0	120	1	9.999968e-01	34	239	0	120	2		0	0	0	0	0	2	1	1	32	443	0	118	2								-7.474020	1	1	121392	1	38	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.800000	0.550000	1.000000	1.000000	0.812688	0.800000	0	6.700000e-01	9.900000e-01
SLIT3	6586	broad.mit.edu	37	5	168112785	168112785	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168112785G>A	ENST00000519560.1	-	31	3881	c.3462C>T	c.(3460-3462)tgC>tgT	p.C1154C	SLIT3_ENST00000404867.3_Silent_p.C1154C|SLIT3_ENST00000332966.8_Silent_p.C1161C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)			100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TGAGCTTCTCGCATCTGGGGC	0.647000													Ovarian(29;311 847 10864 17279 24903)											0							SO:0001819	synonymous_variant			ENST00000519560.1	1	1	hg19	CCDS4369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	1	0	1	52	249	0	39	0	9.497775e-01	0	26	0	39	2		0	0	0	0	0	2	1	1	52	242	0	38	2								-20.000000	1	1	121408	1	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT3	6586	broad.mit.edu	37	5	168139347	168139347	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168139347G>T	ENST00000519560.1	-	24	2915	c.2496C>A	c.(2494-2496)ggC>ggA	p.G832G	CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G832G|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Silent_p.G832G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)			100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		AAATGTCATTGCCATGGAGGG	0.493000													Ovarian(29;311 847 10864 17279 24903)											0							SO:0001819	synonymous_variant			ENST00000519560.1	1	1	hg19	CCDS4369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	1	0	0	25	307	0	81	0	2.690689e-01	0	13	0	81	2		0	0	0	0	0	2	1	9.999998e-01	24	297	0	81	2								-8.151310	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.910000	0.600000	1.000000	1.000000	0.884924	0.910000	1	7.400000e-01	1
SLIT3	6586	broad.mit.edu	37	5	168244398	168244398	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168244398G>A	ENST00000519560.1	-	8	1119	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W|SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)			100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CCAACTGTCCGTCGCTGTCGC	0.612000													Ovarian(29;311 847 10864 17279 24903)											0							SO:0001583	missense			ENST00000519560.1	1	1	hg19	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826038	0.71143	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77750	-1.12;-1.12;-1.12	5.62	-0.0254	0.13935	Cysteine-rich flanking region, C-terminal (1);	0.169770	0.49305	D	0.000159	T	0.79879	0.4522	L	0.45137	1.4	0.28541	N	0.912114	D;D;D	0.76494	0.999;0.999;0.994	P;D;P	0.63957	0.895;0.92;0.757	T	0.75311	-0.3362	10	0.87932	D	0	.	11.5006	0.50435	0.0:0.1126:0.3165:0.5709	.	234;234;234	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	W	234	ENSP00000430333:R234W;ENSP00000332164:R234W;ENSP00000384890:R234W	ENSP00000332164:R234W	R	-	1	2	SLIT3	168176976	0.997000	0.39634	0.813000	0.32504	0.990000	0.78478	3.642000	0.54367	-0.019000	0.14055	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	1	0	1	57	249	1	55	0	6.380617e-01	0	17	1	55	3		0	0	0	0	0	2	1	9.999995e-01	56	241	1	55	18								-20.000000	1	1	121412	4	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLIT3	6586	broad.mit.edu	37	5	168310296	168310296	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168310296G>T	ENST00000519560.1	-	5	878	c.459C>A	c.(457-459)ttC>ttA	p.F153L	SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L|SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)			100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TGATGCCGCGGAACGCCTTCC	0.498000													Ovarian(29;311 847 10864 17279 24903)											0							SO:0001583	missense			ENST00000519560.1	1	1	hg19	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916738	0.52546	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.64803	-0.12;-0.12;-0.12	4.97	4.1	0.47936	.	0.057875	0.64402	D	0.000002	T	0.66167	0.2762	L	0.41236	1.265	0.51482	D	0.999922	D;D	0.89917	0.99;1.0	D;D	0.91635	0.979;0.999	T	0.63097	-0.6713	10	0.33141	T	0.24	.	6.2219	0.20685	0.3298:0.0:0.6702:0.0	.	153;153	O75094-2;O75094	.;SLIT3_HUMAN	L	153	ENSP00000430333:F153L;ENSP00000332164:F153L;ENSP00000384890:F153L	ENSP00000332164:F153L	F	-	3	2	SLIT3	168242874	1.000000	0.71417	0.995000	0.50966	0.609000	0.37215	3.645000	0.54389	1.081000	0.41110	-0.140000	0.14226	TTC		TCGA-IB-7651-01A-11D-2154-08	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	1	0	1	56	304	0	67	0	3.045203e-01	0	7	0	67	2		0	0	0	0	0	2	1	1	54	293	0	67	2								-3.229435	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK2	1794	broad.mit.edu	37	5	169116331	169116331	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169116331C>A	ENST00000256935.8	+	9	917	c.837C>A	c.(835-837)gtC>gtA	p.V279V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TGAAGGTGGTCTTCACGGTGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000256935.8	1	1	hg19	CCDS4371.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1	40	171	0	72	0	9.868455e-01	0	32	0	72	2		0	0	0	0	0	2	1	1	40	169	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK2	1794	broad.mit.edu	37	5	169138991	169138991	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169138991G>A	ENST00000256935.8	+	16	1615	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.D39N|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TTCATGTTTCGACATCGGTCA	0.498000																								0							SO:0001583	missense			ENST00000256935.8	1	1	hg19	CCDS4371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.340564|5.340564	0.95783|0.95783	.|.	.|.	ENSG00000134516|ENSG00000134516	ENST00000520908|ENST00000256935;ENST00000343291	T|T	0.07327|0.13778	3.2|2.56	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44180|0.44180	0.1281|0.1281	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	P|D;D	0.36483|0.89917	0.555|1.0;1.0	B|D;D	0.28553|0.87578	0.091|0.996;0.998	T|T	0.43845|0.43845	-0.9366|-0.9366	9|10	0.30078|0.66056	T|D	0.28|0.02	.|.	19.3773|19.3773	0.94517|0.94517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39|512;512	E7ERW7|E5RFJ0;Q92608	.|.;DOCK2_HUMAN	N|Q	39|512;30	ENSP00000429283:D39N|ENSP00000256935:R512Q	ENSP00000429283:D39N|ENSP00000256935:R512Q	D|R	+|+	1|2	0|0	DOCK2|DOCK2	169071569|169071569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.956000|7.956000	0.87863|0.87863	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1	85	412	0	101	0	9.994010e-01	0	55	0	101	2		0	0	0	0	0	2	1	1	83	399	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK2	1794	broad.mit.edu	37	5	169230145	169230145	+	Missense_Mutation	SNP	C	C	A	rs112062072	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169230145C>A	ENST00000256935.8	+	26	2718	c.2638C>A	c.(2638-2640)Ctg>Atg	p.L880M	DOCK2_ENST00000520908.1_Missense_Mutation_p.L372M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		ACACCAGGTCCTGGAGAGGAA	0.498000																								0							SO:0001583	missense			ENST00000256935.8	1	1	hg19	CCDS4371.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.81	1.749829	0.30955	2.27E-4	0.001047	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.21361	2.01;2.01;2.01	5.36	3.56	0.40772	.	0.921684	0.09265	N	0.825915	T	0.11067	0.0270	N	0.08118	0	0.42644	D	0.99342	B;B	0.30709	0.291;0.042	B;B	0.24541	0.054;0.037	T	0.07731	-1.0757	10	0.54805	T	0.06	.	8.148	0.31124	0.282:0.6461:0.0:0.0719	.	372;880	E7ERW7;Q92608	.;DOCK2_HUMAN	M	880;261;372;84	ENSP00000256935:L880M;ENSP00000429283:L372M;ENSP00000428841:L84M	ENSP00000256935:L880M	L	+	1	2	DOCK2	169162723	0.088000	0.21588	0.133000	0.22050	0.957000	0.61999	0.944000	0.29043	0.733000	0.32492	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1	59	246	0	78	0	9.993872e-01	0	49	0	78	2		0	0	0	0	0	2	1	1	58	241	0	77	2								-2.955752	1	1	121412	42	50	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK2	1794	broad.mit.edu	37	5	169412848	169412848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169412848C>T	ENST00000256935.8	+	29	2995	c.2915C>T	c.(2914-2916)aCc>aTc	p.T972I	DOCK2_ENST00000520908.1_Missense_Mutation_p.T464I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.T33I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TTGATGGAGACCTTCATCATG	0.453000																								0							SO:0001583	missense			ENST00000256935.8	0	1	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	9.752	1.167730	0.21621	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.28255	1.62;1.62;1.62	5.19	5.19	0.71726	.	0.113505	0.64402	D	0.000016	T	0.26774	0.0655	N	0.05330	-0.07	0.47949	D	0.999556	B;D	0.63880	0.024;0.993	B;P	0.56343	0.022;0.796	T	0.03051	-1.1078	10	0.02654	T	1	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	464;972	E7ERW7;Q92608	.;DOCK2_HUMAN	I	972;464;33	ENSP00000256935:T972I;ENSP00000429283:T464I;ENSP00000438827:T33I	ENSP00000256935:T972I	T	+	2	0	DOCK2	169345426	1.000000	0.71417	0.992000	0.48379	0.833000	0.47200	5.986000	0.70563	2.426000	0.82243	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	0	0	0	13	651	0	173	0	4.725428e-01	1	76	0	173	2		0	0	0	0	0	2	1	9.994712e-01	13	638	0	172	2								-3.347801	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.240000	0.130000	1.000000	0.230000	0.302172	0.240000	0	1.800000e-01	3.400000e-01
DOCK2	1794	broad.mit.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169474616C>T	ENST00000256935.8	+	40	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	p.R1357W(1)		160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CTCCTTCCTGCGGGTGAGTTT	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000256935.8	1	1	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983404	0.74474	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.12465	3.34;2.96;2.68	5.21	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.92507	3.315	0.41599	D	0.988849	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60811	-0.7189	10	0.87932	D	0	.	14.8729	0.70471	0.1947:0.8053:0.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1357;849;418	ENSP00000256935:R1357W;ENSP00000429283:R849W;ENSP00000438827:R418W	ENSP00000256935:R1357W	R	+	1	2	DOCK2	169407194	0.901000	0.30685	1.000000	0.80357	0.859000	0.49053	1.258000	0.32944	2.419000	0.82065	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1	44	219	0	43	0	9.999883e-01	0	88	0	43	2		0	0	0	0	0	2	1	1	44	215	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK2	1794	broad.mit.edu	37	5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169503008C>T	ENST00000256935.8	+	47	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		AGATAACTTGCGACCCTTCCA	0.502000																								0							SO:0001587	stop_gained			ENST00000256935.8	0	1	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	50	17.264852	0.99882	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.18	3.34	0.38264	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3087	0.66400	0.2713:0.7287:0.0:0.0	.	.	.	.	X	1596;1088;657	.	ENSP00000256935:R1596X	R	+	1	2	DOCK2	169435586	1.000000	0.71417	0.994000	0.49952	0.509000	0.34042	1.863000	0.39459	0.655000	0.30866	-0.158000	0.13435	CGA		TCGA-IB-7651-01A-11D-2154-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1	126	604	0	135	0	9.999935e-01	0	82	0	135	2		0	0	0	0	0	2	1	1	126	596	0	135	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXI1	2299	broad.mit.edu	37	5	169533265	169533265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169533265C>T	ENST00000306268.6	+	1	365	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	FOXI1_ENST00000449804.2_Missense_Mutation_p.L102F			Q12951	FOXI1_HUMAN	forkhead box I1			35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CGTGTCGGGGCTTGGGGGGAG	0.697000									Pendred syndrome															0							SO:0001583	missense	Familial Cancer Database	Goiter-Deafness syndrome	ENST00000306268.6	0	1	hg19	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194894	0.22037	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94613	-3.33;-3.47	4.78	4.78	0.61160	.	0.167611	0.39274	N	0.001411	D	0.87418	0.6172	L	0.28608	0.87	0.40183	D	0.977319	B;B	0.31931	0.347;0.236	B;B	0.28011	0.085;0.039	T	0.83332	-0.0012	10	0.23302	T	0.38	.	6.2189	0.20671	0.0:0.7619:0.0:0.2381	.	102;102	Q12951-2;Q12951	.;FOXI1_HUMAN	F	102	ENSP00000304286:L102F;ENSP00000415483:L102F	ENSP00000304286:L102F	L	+	1	0	FOXI1	169465843	0.664000	0.27457	0.993000	0.49108	0.405000	0.30901	1.050000	0.30404	2.202000	0.70862	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	1	0	0	6	42	0	8	0	0	0	1	0	8	2		0	0	0	0	0	2	1	9.661518e-01	6	41	0	8	2								-12.788920	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.630000	1.000000	1.000000	0.967603	0.990000	1	9.800000e-01	1
RANBP17	64901	broad.mit.edu	37	5	170338133	170338133	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170338133G>T	ENST00000523189.1	+	7	919	c.755G>T	c.(754-756)aGa>aTa	p.R252I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17			50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		ACAACTTGGAGAACAAGTAAG	0.373000			T	TRD@	ALL										Dom	yes		5	5q34	64901	RAN binding protein 17		L	0							SO:0001583	missense			ENST00000523189.1	1	1	hg19	CCDS34287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.7|25.7	4.661002|4.661002	0.88154|0.88154	.|.	.|.	ENSG00000204764|ENSG00000204764	ENST00000522734|ENST00000523189;ENST00000545246	.|T	.|0.29397	.|1.57	5.43|5.43	4.56|4.56	0.56223|0.56223	.|Armadillo-type fold (1);	.|0.089808	.|0.49305	.|D	.|0.000156	T|T	0.62962|0.62962	0.2471|0.2471	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.71803|0.71803	-0.4482|-0.4482	5|10	.|0.59425	.|D	.|0.04	-10.4345|-10.4345	13.8894|13.8894	0.63729|0.63729	0.0744:0.0:0.9256:0.0|0.0744:0.0:0.9256:0.0	.|.	.|252	.|Q9H2T7	.|RBP17_HUMAN	D|I	34|252;148	.|ENSP00000427975:R252I	.|ENSP00000373770:R252I	E|R	+|+	3|2	2|0	RANBP17|RANBP17	170270711|170270711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	6.608000|6.608000	0.74168|0.74168	1.407000|1.407000	0.46875|0.46875	0.655000|0.655000	0.94253|0.94253	GAG|AGA		TCGA-IB-7651-01A-11D-2154-08	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	1	0	1	28	176	0	35	1	2.568776e-01	4	3	0	35	2		0	0	0	0	0	2	1	1	27	174	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999642	0.990000	1	9.900000e-01	1
RANBP17	64901	broad.mit.edu	37	5	170345732	170345732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170345732G>T	ENST00000523189.1	+	10	1134	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17			50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		GTCTGATCCAGGTAATTATCA	0.333000			T	TRD@	ALL										Dom	yes		5	5q34	64901	RAN binding protein 17		L	0							SO:0001583	missense			ENST00000523189.1	1	1	hg19	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.104061	0.76983	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.49432	0.78	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.56217	0.1970	L	0.53249	1.67	0.42504	D	0.992947	D	0.62365	0.991	P	0.54759	0.76	T	0.58836	-0.7566	10	0.66056	D	0.02	-15.4537	12.8262	0.57721	0.0754:0.0:0.9246:0.0	.	324	Q9H2T7	RBP17_HUMAN	C	324;220	ENSP00000427975:G324C	ENSP00000373770:G324C	G	+	1	0	RANBP17	170278337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.096000	0.57734	2.712000	0.92718	0.491000	0.48974	GGT		TCGA-IB-7651-01A-11D-2154-08	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	1	0	0	16	221	0	52	0	5.290456e-03	0	2	0	52	2		0	0	0	0	0	2	1	9.999360e-01	16	218	0	51	2								-3.221633	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.820000	0.480000	1.000000	1.000000	0.818633	0.820000	0	6.300000e-01	1
RANBP17	64901	broad.mit.edu	37	5	170632528	170632528	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170632528C>T	ENST00000523189.1	+	20	2307	c.2143C>T	c.(2143-2145)Cgt>Tgt	p.R715C	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	p.R715S(1)		50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		CCACTGACAGCGTATGTTGAT	0.428000			T	TRD@	ALL										Dom	yes		5	5q34	64901	RAN binding protein 17		L	1	Substitution - Missense(1)						SO:0001630	splice_region_variant			ENST00000523189.1	1	0	hg19	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845396	0.71603	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.68331	-0.32	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.80059	0.4554	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70487	0.932;0.969;0.932	T	0.78986	-0.1987	9	.	.	.	-11.8389	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	715;40;715	Q546R4;Q96M10;Q9H2T7	.;.;RBP17_HUMAN	C	715;145	ENSP00000427975:R715C	.	R	+	1	0	RANBP17	170565133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.946000	0.56644	2.832000	0.97577	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	1	0	1	45	213	0	61	0	4.886833e-01	0	9	0	61	2		0	0	0	0	0	2	1	1	45	208	0	61	2								-3.153530	1	1	121412	2	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANBP17	64901	broad.mit.edu	37	5	170668042	170668042	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170668042T>C	ENST00000523189.1	+	23	2697	c.2533T>C	c.(2533-2535)Tat>Cat	p.Y845H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17			50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		GTGTGGAAATTATGTCAGCTT	0.453000			T	TRD@	ALL										Dom	yes		5	5q34	64901	RAN binding protein 17		L	0							SO:0001583	missense			ENST00000523189.1	1	1	hg19	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455417	0.84209	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.63255	-0.03	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.50627	D	0.000108	D	0.84092	0.5396	M	0.93808	3.46	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88025	0.2771	10	0.59425	D	0.04	-9.9405	15.4819	0.75534	0.0:0.0:0.0:1.0	.	845;845	Q546R4;Q9H2T7	.;RBP17_HUMAN	H	845;275	ENSP00000427975:Y845H	ENSP00000427975:Y845H	Y	+	1	0	RANBP17	170600647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	2.067000	0.61834	0.455000	0.32223	TAT		TCGA-IB-7651-01A-11D-2154-08	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	1	0	1	243	894	0	191	0	5.365167e-01	0	8	0	191	2		0	0	0	0	0	2	1	1	243	882	0	191	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGF18	8817	broad.mit.edu	37	5	170883635	170883635	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170883635C>T	ENST00000274625.5	+	5	994	c.450C>T	c.(448-450)taC>taT	p.Y150Y		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18			9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		CCGGCTGGTACGTGGGCTTCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000274625.5	0	1	hg19	CCDS4378.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	0	0	0	15	766	0	129	0	8.784747e-02	1	23	0	129	2		0	0	0	0	0	2	1	9.998471e-01	15	749	0	127	2								-2.929818	1	1	121412	4	41	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.230000	0.130000	1.000000	0.230000	0.296003	0.230000	0	1.700000e-01	3.200000e-01
FBXW11	23291	broad.mit.edu	37	5	171305026	171305026	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171305026A>G	ENST00000265094.5	-	7	1034	c.897T>C	c.(895-897)gaT>gaC	p.D299D	FBXW11_ENST00000425623.2_Silent_p.D267D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Silent_p.D286D|FBXW11_ENST00000393802.2_Silent_p.D265D	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11			21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		TCACCGTAGAATCTGAAGAGC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000265094.5	1	1	hg19	CCDS34289.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	1	0	1	59	192	0	44	1	1	15	88	0	44	2		0	0	0	0	0	2	1	1	58	190	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXW11	23291	broad.mit.edu	37	5	171327098	171327098	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171327098C>T	ENST00000265094.5	-	4	517	c.380G>A	c.(379-381)gGc>gAc	p.G127D	FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.G114D|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11			21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		GTGATCTAAGCCTTGCTCTAC	0.428000																								0							SO:0001583	missense			ENST00000265094.5	1	1	hg19	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645290	0.87859	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	4.48	4.48	0.54585	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.964;0.973;0.974;0.988	T	0.63180	-0.6695	10	0.66056	D	0.02	-11.0944	17.1401	0.86750	0.0:1.0:0.0:0.0	.	95;93;127;114	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	D	114;127;93;95;148	ENSP00000296933:G114D;ENSP00000265094:G127D;ENSP00000377391:G93D;ENSP00000444929:G95D;ENSP00000428753:G148D	ENSP00000265094:G127D	G	-	2	0	FBXW11	171259703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.771000	0.85420	2.195000	0.70347	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	1	0	0	117	498	0	124	1	1	26	136	0	124	2		0	0	0	0	0	2	1	1	116	491	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK10	6793	broad.mit.edu	37	5	171532714	171532714	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171532714C>A	ENST00000176763.5	-	7	1159	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10			47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		CCAGGGCTATCTTCAGGAAGT	0.597000																								0							SO:0001583	missense			ENST00000176763.5	1	1	hg19	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458121	0.43634	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.20200	2.09	4.74	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122273	0.53938	D	0.000050	T	0.22513	0.0543	L	0.28504	0.86	0.58432	D	0.999998	P	0.35923	0.528	P	0.45856	0.495	T	0.04373	-1.0956	10	0.66056	D	0.02	.	10.4896	0.44744	0.0:0.9043:0.0:0.0957	.	272	O94804	STK10_HUMAN	N	272	ENSP00000176763:K272N	ENSP00000176763:K272N	K	-	3	2	STK10	171465319	0.984000	0.35163	0.759000	0.31340	0.579000	0.36224	1.338000	0.33873	0.977000	0.38444	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	1	0	1	67	290	0	68	1	9.999878e-01	14	60	0	68	2		0	0	0	0	0	2	1	1	67	287	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBTD2	92181	broad.mit.edu	37	5	171638856	171638856	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638856T>C	ENST00000393792.2	-	3	1088	c.683A>G	c.(682-684)aAc>aGc	p.N228S		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2			10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		TGGTGTTGGGTTCTGCACAGG	0.478000																								0							SO:0001583	missense			ENST00000393792.2	1	1	hg19	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	T	4.827	0.153697	0.09185	.	.	ENSG00000168246	ENST00000393792	T	0.42513	0.97	5.96	-2.33	0.06724	.	0.396616	0.32204	N	0.006425	T	0.24084	0.0583	L	0.36672	1.1	0.23095	N	0.998302	B	0.02656	0.0	B	0.01281	0.0	T	0.11817	-1.0572	10	0.24483	T	0.36	.	5.6948	0.17849	0.0:0.2646:0.2396:0.4957	.	228	Q8WUN7	UBTD2_HUMAN	S	228	ENSP00000377381:N228S	ENSP00000377381:N228S	N	-	2	0	UBTD2	171571461	1.000000	0.71417	0.035000	0.18076	0.560000	0.35617	0.891000	0.28309	-0.635000	0.05531	-0.250000	0.11733	AAC		TCGA-IB-7651-01A-11D-2154-08	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	1	0	1	57	215	0	37	1	1	41	103	0	37	2		0	0	0	0	0	2	1	1	54	211	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBTD2	92181	broad.mit.edu	37	5	171638977	171638977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638977C>T	ENST00000393792.2	-	3	967	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2			10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		CTACCTGGTTCCACTCCCTCT	0.488000																								0							SO:0001583	missense			ENST00000393792.2	1	1	hg19	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151244	0.38021	.	.	ENSG00000168246	ENST00000393792	T	0.73897	-0.79	5.96	5.96	0.96718	Ubiquitin supergroup (1);Ubiquitin (2);	0.237161	0.49305	D	0.000146	T	0.65811	0.2727	N	0.25890	0.77	0.50632	D	0.999882	B	0.26935	0.164	B	0.29077	0.098	T	0.60068	-0.7335	10	0.30078	T	0.28	-13.0712	17.9158	0.88950	0.0:1.0:0.0:0.0	.	188	Q8WUN7	UBTD2_HUMAN	K	188	ENSP00000377381:E188K	ENSP00000377381:E188K	E	-	1	0	UBTD2	171571582	0.997000	0.39634	0.980000	0.43619	0.095000	0.18619	3.298000	0.51818	2.832000	0.97577	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	1	0	1	124	549	0	120	1	1	34	111	0	120	2		0	0	0	0	0	2	1	1	120	537	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SH3PXD2B	285590	broad.mit.edu	37	5	171780895	171780895	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171780895A>C	ENST00000311601.5	-	9	952	c.782T>G	c.(781-783)aTc>aGc	p.I261S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.I261S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B			36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		CTGGTACCTGATCTTCCACCA	0.602000																								0							SO:0001583	missense			ENST00000311601.5	0	1	hg19	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404152	0.83230	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.30714	1.52;1.52	5.43	5.43	0.79202	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.64567	1.98	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.55140	-0.8187	10	0.87932	D	0	.	13.43	0.61049	1.0:0.0:0.0:0.0	.	261	A1X283	SPD2B_HUMAN	S	261	ENSP00000430890:I261S;ENSP00000309714:I261S	ENSP00000309714:I261S	I	-	2	0	SH3PXD2B	171713500	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	2.061000	0.61500	0.459000	0.35465	ATC		TCGA-IB-7651-01A-11D-2154-08	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	0	0	0	14	413	0	69	0	9.459706e-01	1	147	0	69	2		0	0	0	0	0	2	1	9.996957e-01	13	399	0	68	2								-13.719590	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.400000	0.220000	1.000000	0.380000	0.452882	0.400000	0	3.000000e-01	5.500000e-01
SH3PXD2B	285590	broad.mit.edu	37	5	171821594	171821594	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171821594G>A	ENST00000311601.5	-	4	452	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SH3PXD2B_ENST00000519643.1_Silent_p.R94R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B			36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		TTGGTATCAGGCGTTTGACAG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000311601.5	0	1	hg19	CCDS34291.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	0	0	1	21	136	1	45	0	9.584626e-01	6	146	1	45	12		0	0	0	0	0	2	1	9.452555e-01	21	135	1	45	13								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.998520	0.990000	1	9.900000e-01	1
BASP1	10409	broad.mit.edu	37	5	17275470	17275470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17275470G>A	ENST00000322611.3	+	2	405	c.145G>A	c.(145-147)Gcc>Acc	p.A49T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1			9					CGCAGAGCCCGCCGAGGCCAA	0.697000																								0							SO:0001583	missense			ENST00000322611.3	1	1	hg19	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	3.895	-0.023250	0.07634	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.37235	1.21	4.57	-2.57	0.06248	.	0.106078	0.39687	N	0.001289	T	0.06050	0.0157	N	0.00368	-1.59	0.22811	N	0.998704	B	0.09022	0.002	B	0.11329	0.006	T	0.36915	-0.9728	10	0.02654	T	1	1.1939	5.7382	0.18079	0.4852:0.1426:0.3722:0.0	.	49	P80723	BASP1_HUMAN	T	49	ENSP00000319281:A49T	ENSP00000319281:A49T	A	+	1	0	BASP1	17328470	0.000000	0.05858	0.008000	0.14137	0.730000	0.41778	-0.936000	0.03946	-0.514000	0.06488	0.455000	0.32223	GCC		TCGA-IB-7651-01A-11D-2154-08	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2	1	0	0	19	98	0	19	0	9.999991e-01	0	138	0	19	2		0	0	0	0	0	2	1	9.999921e-01	20	92	0	17	2								-20.000000	1	1	119772	2	24	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999336	0.990000	1	9.900000e-01	1
CPEB4	80315	broad.mit.edu	37	5	173316694	173316694	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316694G>A	ENST00000265085.5	+	0	1412				CPEB4_ENST00000519835.1_De_novo_Start_InFrame|CPEB4_ENST00000520867.1_De_novo_Start_InFrame|CPEB4_ENST00000334035.5_De_novo_Start_InFrame	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4			20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		GAGACATCAGGTTGTCATTTT	0.378000																								0											ENST00000265085.5	0	1	hg19	CCDS4390.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	0	0	0	89	442	0	78	1	9.984626e-01	11	39	0	78	2		0	0	0	0	0	2	1	1	88	432	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPEB4	80315	broad.mit.edu	37	5	173316988	173316988	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316988A>G	ENST00000265085.5	+	1	1706	c.252A>G	c.(250-252)caA>caG	p.Q84Q	CPEB4_ENST00000519835.1_Silent_p.Q84Q|CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000334035.5_Silent_p.Q84Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4			20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		AAAGTCAGCAACAGGAACAGC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000265085.5	1	1	hg19	CCDS4390.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	1	0	0	59	596	0	140	1	9.786268e-01	4	59	0	140	2		0	0	0	0	0	2	1	1	56	588	0	140	2								-16.292450	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.820000	1.000000	1.000000	0.979080	0.990000	1	9.400000e-01	1
CPEB4	80315	broad.mit.edu	37	5	173378900	173378900	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173378900A>C	ENST00000265085.5	+	8	3193	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T	CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4			20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		GACCCACGAAAAACTATATTT	0.428000																								0							SO:0001583	missense			ENST00000265085.5	1	1	hg19	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899702	0.91962	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.040740	0.85682	D	0.000000	T	0.47414	0.1444	L	0.52905	1.665	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.994	D;D;D;D;D	0.76071	0.987;0.982;0.96;0.917;0.96	T	0.45716	-0.9242	10	0.87932	D	0	-16.4703	15.993	0.80220	1.0:0.0:0.0:0.0	.	555;563;555;190;580	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	T	580;555;563;555;190;173	ENSP00000265085:K580T;ENSP00000429092:K555T;ENSP00000334533:K563T;ENSP00000429048:K555T;ENSP00000430345:K190T;ENSP00000427990:K173T	ENSP00000265085:K580T	K	+	2	0	CPEB4	173311506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.236000	0.73375	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	1	0	0	21	225	0	67	1	9.698574e-01	7	57	0	67	2		0	0	0	0	0	2	1	9.999976e-01	20	221	0	67	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.740000	1.000000	1.000000	0.973733	0.990000	1	9.400000e-01	1
DRD1	1812	broad.mit.edu	37	5	174869427	174869427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869427G>A	ENST00000393752.2	-	2	1668	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1			23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAATGCGCCGTATTTGTTTC	0.493000																								0							SO:0001583	missense			ENST00000393752.2	1	1	hg19	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637339	0.67130	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.43294	0.95	5.39	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.87932	D	0	.	13.2032	0.59780	0.0:0.0:0.7355:0.2644	.	226	P21728	DRD1_HUMAN	W	226	ENSP00000377353:R226W	ENSP00000327652:R226W	R	-	1	2	DRD1	174802033	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	2.298000	0.43602	2.688000	0.91661	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	1	0	1	113	557	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	112	549	0	112	2								-3.231196	1	1	121412	1	34	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DRD1	1812	broad.mit.edu	37	5	174869930	174869930	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869930A>G	ENST00000393752.2	-	2	1165	c.173T>C	c.(172-174)gTg>gCg	p.V58A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1			23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAAGTTGGTCACCTTGGACCG	0.587000																								0							SO:0001583	missense			ENST00000393752.2	1	1	hg19	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673422	0.67928	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.37584	1.19	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.79343	2.45	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.66015	-0.6028	10	0.87932	D	0	.	15.3831	0.74676	1.0:0.0:0.0:0.0	.	58	P21728	DRD1_HUMAN	A	58	ENSP00000377353:V58A	ENSP00000327652:V58A	V	-	2	0	DRD1	174802536	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	9.157000	0.94714	2.285000	0.76669	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	1	0	1	88	221	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	87	214	0	62	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFXN1	94081	broad.mit.edu	37	5	174919199	174919199	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174919199A>C	ENST00000321442.5	+	2	347	c.93A>C	c.(91-93)gtA>gtC	p.V31V	SFXN1_ENST00000502393.1_Silent_p.V31V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1			15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		TCTTCACTGTAACTGACCCCA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000321442.5	1	1	hg19	CCDS4394.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	1	0	1	66	221	0	49	1	1	30	58	0	49	2		0	0	0	0	0	2	1	1	65	219	0	48	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFXN1	94081	broad.mit.edu	37	5	174937166	174937166	+	Silent	SNP	C	C	T	rs146805862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174937166C>T	ENST00000321442.5	+	4	644	c.390C>T	c.(388-390)gtC>gtT	p.V130V	SFXN1_ENST00000502393.1_Silent_p.V130V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1			15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		TCAATGCCGTCGTCAATTACA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000321442.5	1	1	hg19	CCDS4394.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	1	0	1	30	81	0	33	1	1	26	85	0	33	2		0	0	0	0	0	2	1	1	30	79	0	33	2								-20.000000	1	1	121412	1	36	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFXN1	94081	broad.mit.edu	37	5	174940559	174940559	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940559C>T	ENST00000321442.5	+	7	944	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1			15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		CGCAAGTTGTCGTGTCCAGGA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000321442.5	1	1	hg19	CCDS4394.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	1	0	1	90	238	0	51	1	1	30	75	0	51	2		0	0	0	0	0	2	1	1	89	231	0	51	2								-6.362308	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFXN1	94081	broad.mit.edu	37	5	174940564	174940564	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940564C>T	ENST00000321442.5	+	7	949	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1			15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		GTTGTCGTGTCCAGGATTCTC	0.522000																								0							SO:0001583	missense			ENST00000321442.5	1	1	hg19	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638720	0.67130	.	.	ENSG00000164466	ENST00000321442	T	0.45668	0.89	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.82045	-0.0652	10	0.87932	D	0	-34.1264	17.5333	0.87820	0.0:1.0:0.0:0.0	.	232	Q9H9B4	SFXN1_HUMAN	F	232	ENSP00000316905:S232F	ENSP00000316905:S232F	S	+	2	0	SFXN1	174873170	1.000000	0.71417	0.986000	0.45419	0.178000	0.23041	7.572000	0.82409	2.434000	0.82447	0.462000	0.41574	TCC		TCGA-IB-7651-01A-11D-2154-08	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	1	0	1	51	270	0	51	1	9.999976e-01	16	88	0	51	2		0	0	0	0	0	2	1	1	49	265	0	51	2								-20.000000	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HRH2	3274	broad.mit.edu	37	5	175110665	175110665	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110665G>T	ENST00000231683.2	+	1	2202	c.429G>T	c.(427-429)tgG>tgT	p.W143C	HRH2_ENST00000377291.2_Missense_Mutation_p.W143C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2			22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCTTAATTTGGGTCATCTCCA	0.552000																								0							SO:0001583	missense			ENST00000231683.2	0	1	hg19	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765882	0.69878	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	D;D	0.88818	-2.43;-2.43	5.27	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97572	1.0105	10	0.87932	D	0	.	13.0723	0.59068	0.0775:0.0:0.9225:0.0	.	143;143	P25021;Q7Z5R9	HRH2_HUMAN;.	C	143	ENSP00000366506:W143C;ENSP00000231683:W143C	ENSP00000231683:W143C	W	+	3	0	HRH2	175043271	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.869000	0.99810	1.235000	0.43724	0.462000	0.41574	TGG		TCGA-IB-7651-01A-11D-2154-08	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1	0	0	0	8	326	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	9.886437e-01	8	319	0	52	2								-3.245632	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.370000	0.160000	1.000000	0.310000	0.483174	0.370000	0	2.400000e-01	1
HRH2	3274	broad.mit.edu	37	5	175110875	175110875	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110875C>A	ENST00000231683.2	+	1	2412	c.639C>A	c.(637-639)gcC>gcA	p.A213A	HRH2_ENST00000377291.2_Silent_p.A213A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2			22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGGATCAGGCCAAGAGGATCA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000231683.2	1	1	hg19	CCDS4395.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1	1	0	0	35	438	0	82	0	1.197519e-01	0	8	0	82	2		0	0	0	0	0	2	1	1	34	425	0	79	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.700000	1.000000	1.000000	0.945567	0.990000	1	8.500000e-01	1
KIAA1191	57179	broad.mit.edu	37	5	175774795	175774795	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175774795C>A	ENST00000298569.4	-	9	1259	c.726G>T	c.(724-726)caG>caT	p.Q242H	KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.Q223H|KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191			6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CTCGGTAGGCCTGGGTGGCAA	0.512000																								0							SO:0001583	missense			ENST00000298569.4	0	1	hg19	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491684	0.64074	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164	.	.	.	5.1	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.73962	2.25	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.75833	-0.3178	9	0.87932	D	0	-15.3368	10.9192	0.47154	0.0:0.7879:0.0:0.2121	.	242	Q96A73	K1191_HUMAN	H	242;223;242	.	ENSP00000298569:Q242H	Q	-	3	2	KIAA1191	175707401	0.994000	0.37717	0.997000	0.53966	0.835000	0.47333	2.837000	0.48191	0.657000	0.30906	-0.150000	0.13652	CAG		TCGA-IB-7651-01A-11D-2154-08	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	0	0	0	13	527	0	90	1	9.995783e-01	12	536	0	90	2		0	0	0	0	0	2	1	9.994479e-01	12	513	0	90	2								-11.098490	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.350000	0.180000	1.000000	0.310000	0.474175	0.350000	0	2.500000e-01	1
ARL10	285598	broad.mit.edu	37	5	175798762	175798762	+	Missense_Mutation	SNP	G	G	A	rs148633924	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175798762G>A	ENST00000310389.5	+	4	695	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10			4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GAGCTGCAGCGGGAGCTGGGT	0.587000																								0							SO:0001583	missense			ENST00000310389.5	1	1	hg19	CCDS4400.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570061	0.28003	2.27E-4	4.65E-4	ENSG00000175414	ENST00000310389	T	0.62639	0.01	5.39	-1.55	0.08558	.	4.336230	0.00664	N	0.000603	T	0.36963	0.0986	N	0.04768	-0.165	0.21782	N	0.999548	B	0.16396	0.017	B	0.09377	0.004	T	0.44081	-0.9351	10	0.02654	T	1	-5.0117	9.7024	0.40196	0.6775:0.0:0.3225:0.0	.	200	Q8N8L6	ARL10_HUMAN	Q	200	ENSP00000308496:R200Q	ENSP00000308496:R200Q	R	+	2	0	ARL10	175731368	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	0.716000	0.25836	-0.310000	0.08766	-1.202000	0.01658	CGG		TCGA-IB-7651-01A-11D-2154-08	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	0	0	1	166	435	0	106	1	8.082044e-01	2	8	0	106	2		0	0	0	0	0	2	1	1	162	423	0	104	2								-7.878338	1	1	121412	13	45	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLTB	1212	broad.mit.edu	37	5	175843361	175843361	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175843361C>T	ENST00000310418.4	-	1	209	c.4G>A	c.(4-6)Gct>Act	p.A2T	CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B			1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AAGTCATCAGCCATTTTCCCC	0.746000																								0							SO:0001583	missense			ENST00000310418.4	1	1	hg19	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888267	0.52014	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000502877	.	.	.	4.1	2.27	0.28462	.	0.079352	0.48767	D	0.000176	T	0.49847	0.1581	L	0.51422	1.61	0.38125	D	0.93797	B;B	0.23442	0.069;0.085	B;B	0.28011	0.051;0.085	T	0.51325	-0.8720	9	0.87932	D	0	.	8.5743	0.33590	0.3101:0.54:0.15:0.0	.	2;2	P09497-2;P09497	.;CLCB_HUMAN	T	2	.	ENSP00000309415:A2T	A	-	1	0	CLTB	175775967	1.000000	0.71417	0.863000	0.33907	0.426000	0.31534	2.189000	0.42621	0.363000	0.24346	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1	1	0	0	62	204	0	38	1	1	37	58	0	38	2		0	0	0	0	0	2	1	1	59	199	0	38	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAF2	23197	broad.mit.edu	37	5	175913437	175913437	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175913437A>G	ENST00000261942.6	+	3	267	c.214A>G	c.(214-216)Aat>Gat	p.N72D	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2			10					CCTGCAGGTTAATACAGCTGA	0.458000																								0							SO:0001583	missense			ENST00000261942.6	1	1	hg19	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489276	0.64074	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	N	0.11870	0.19	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28459	-1.0043	8	.	.	.	-19.0218	16.6127	0.84892	1.0:0.0:0.0:0.0	.	72	Q96CS3	FAF2_HUMAN	D	72	.	.	N	+	1	0	FAF2	175846043	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.809000	0.91944	2.322000	0.78497	0.528000	0.53228	AAT		TCGA-IB-7651-01A-11D-2154-08	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	1	0	1	70	380	0	74	1	9.999992e-01	33	78	0	74	2		0	0	0	0	0	2	1	1	67	375	0	74	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAF2	23197	broad.mit.edu	37	5	175921013	175921013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175921013C>A	ENST00000261942.6	+	6	550	c.497C>A	c.(496-498)gCc>gAc	p.A166D		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2			10					CTTAACGATGCCAAAAGGGAG	0.403000																								0							SO:0001583	missense			ENST00000261942.6	1	1	hg19	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043875	0.93685	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	T	0.71934	-0.61	5.5	5.5	0.81552	UAS (1);	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89066	0.3466	10	0.87932	D	0	-13.0592	19.7671	0.96349	0.0:1.0:0.0:0.0	.	166	Q96CS3	FAF2_HUMAN	D	166	ENSP00000261942:A166D	ENSP00000261942:A166D	A	+	2	0	FAF2	175853619	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.414000	0.80117	2.751000	0.94390	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	1	0	1	162	366	0	96	1	1	47	69	0	96	2		0	0	0	0	0	2	1	1	158	361	0	96	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDHR2	54825	broad.mit.edu	37	5	176004439	176004439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004439G>A	ENST00000510636.1	+	13	1508	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2			56					GGGGGGCCCCGATGCAGAAGC	0.647000																								0							SO:0001583	missense			ENST00000510636.1	0	1	hg19	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202505	0.38905	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.61392	0.11;0.11;0.11	4.16	3.28	0.37604	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44307	0.1287	L	0.37750	1.13	0.09310	N	0.999999	D	0.53745	0.962	B	0.41510	0.359	T	0.18178	-1.0345	9	0.31617	T	0.26	-10.8328	8.1509	0.31141	0.2085:0.0:0.7914:0.0	.	412	Q9BYE9	CDHR2_HUMAN	N	412	ENSP00000424565:D412N;ENSP00000261944:D412N;ENSP00000421078:D412N	ENSP00000261944:D412N	D	+	1	0	CDHR2	175937045	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	0.006000	0.13152	1.094000	0.41399	0.448000	0.29417	GAT		TCGA-IB-7651-01A-11D-2154-08	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	0	7	94	0	10	0	4.284231e-01	1	18	0	10	2		0	0	0	0	0	2	1	9.811946e-01	7	93	0	10	2								-5.146843	1	0	121264	8	38	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.450000	1.000000	1.000000	0.891258	0.990000	1	7.000000e-01	1
CDHR2	54825	broad.mit.edu	37	5	176004468	176004468	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004468G>T	ENST00000510636.1	+	13	1537	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2			56					TCTCCCCGGAGCGGGCAGTGG	0.652000																								0							SO:0001583	missense			ENST00000510636.1	1	1	hg19	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570842	0.13623	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60797	0.16;0.16;0.16	4.54	0.779	0.18550	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38295	0.1035	N	0.21097	0.63	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.22312	-1.0220	9	0.15499	T	0.54	-7.7342	9.2184	0.37362	0.3972:0.0:0.6028:0.0	.	421	Q9BYE9	CDHR2_HUMAN	D	421	ENSP00000424565:E421D;ENSP00000261944:E421D;ENSP00000421078:E421D	ENSP00000261944:E421D	E	+	3	2	CDHR2	175937074	0.014000	0.17966	0.001000	0.08648	0.002000	0.02628	1.911000	0.39937	0.273000	0.22049	-0.404000	0.06349	GAG		TCGA-IB-7651-01A-11D-2154-08	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	1	32	83	0	11	1	9.720110e-01	4	14	0	11	2		0	0	0	0	0	2	1	1	32	81	0	11	2								-20.000000	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDHR2	54825	broad.mit.edu	37	5	176005098	176005098	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176005098T>C	ENST00000510636.1	+	15	1848		c.e15+2		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2			56					AGGAAATGGGTAAGGGCTCAG	0.637000																								0							SO:0001630	splice_region_variant			ENST00000510636.1	1	1	hg19	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881532	0.72294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9111	0.58181	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR2	175937704	1.000000	0.71417	0.985000	0.45067	0.849000	0.48306	5.592000	0.67543	1.993000	0.58246	0.448000	0.29417	.		TCGA-IB-7651-01A-11D-2154-08	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	1	36	119	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1	35	116	0	18	2								-20.000000	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDHR2	54825	broad.mit.edu	37	5	176016537	176016537	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176016537C>T	ENST00000510636.1	+	24	3400	c.3126C>T	c.(3124-3126)acC>acT	p.T1042T	CDHR2_ENST00000506348.1_Silent_p.T1042T|CDHR2_ENST00000261944.5_Silent_p.T1042T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2			56					AGCTCTTCACCGTGGACCAGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000510636.1	1	1	hg19	CCDS34297.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	1	55	292	0	60	1	9.818380e-01	24	11	0	60	2		0	0	0	0	0	2	1	1	53	284	0	59	2								-3.087600	1	1	121412	1	33	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDHR2	54825	broad.mit.edu	37	5	176019739	176019739	+	Silent	SNP	C	C	T	rs139924459	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176019739C>T	ENST00000510636.1	+	31	4024	c.3750C>T	c.(3748-3750)gaC>gaT	p.D1250D	CDHR2_ENST00000506348.1_Silent_p.D1250D|CDHR2_ENST00000261944.5_Silent_p.D1250D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2			56					ACTCCCTGGACGACAACTCTG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000510636.1	0	1	hg19	CCDS34297.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	0	0	0	8	355	0	73	1	2.769317e-01	3	39	0	73	2		0	0	0	0	0	2	1	9.880280e-01	8	343	0	73	2								-3.338283	1	1	121412	11	43	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.340000	0.140000	1.000000	0.300000	0.461333	0.340000	0	2.200000e-01	1
SNCB	6620	broad.mit.edu	37	5	176053475	176053475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176053475G>A	ENST00000310112.3	-	5	456	c.206C>T	c.(205-207)gCt>gTt	p.A69V	MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000506696.1_Missense_Mutation_p.A69V|SNCB_ENST00000393693.2_Missense_Mutation_p.A69V|SNCB_ENST00000510387.1_Missense_Mutation_p.A69V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta			10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGAGAACACAGCTCCTCCCAG	0.582000																								0							SO:0001583	missense			ENST00000310112.3	1	1	hg19	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676133	0.88445	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.36	4.36	0.52297	.	0.099316	0.42172	D	0.000758	D	0.91219	0.7233	L	0.54965	1.715	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	D	0.92262	0.5818	10	0.72032	D	0.01	-8.5917	17.4511	0.87592	0.0:0.0:1.0:0.0	.	69	Q16143	SYUB_HUMAN	V	69	ENSP00000308057:A69V;ENSP00000377296:A69V;ENSP00000424073:A69V;ENSP00000422223:A69V	ENSP00000308057:A69V	A	-	2	0	SNCB	175986081	1.000000	0.71417	0.972000	0.41901	0.953000	0.61014	5.539000	0.67199	2.434000	0.82447	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	1	0	1	72	319	0	69	0	3.471053e-02	0	2	0	69	2		0	0	0	0	0	2	1	1	71	297	0	69	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSPAN17	26262	broad.mit.edu	37	5	176083112	176083112	+	Missense_Mutation	SNP	G	G	A	rs142689576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176083112G>A	ENST00000503045.1	+	6	602	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I|TSPAN17_ENST00000298564.10_Missense_Mutation_p.V98I|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I			Q96FV3	TSN17_HUMAN	tetraspanin 17			13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TGGCTACGACGTCCGGCTCAA	0.607000																								0							SO:0001583	missense			ENST00000503045.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.53	1.376203	0.24857	4.54E-4	2.33E-4	ENSG00000048140	ENST00000310032;ENST00000405525;ENST00000298564;ENST00000508164;ENST00000504168;ENST00000503045;ENST00000515708	T;T;T;T;T;T;T	0.79653	-1.2;-1.2;-1.29;-1.25;-1.25;-1.2;-1.25	5.07	1.26	0.21427	Tetraspanin, EC2 domain (1);	0.130386	0.50627	N	0.000102	T	0.69646	0.3134	L	0.44542	1.39	0.37742	D	0.925641	B;B;B;B;B	0.29805	0.257;0.003;0.048;0.025;0.037	B;B;B;B;B	0.27262	0.078;0.003;0.032;0.025;0.013	T	0.62181	-0.6908	10	0.42905	T	0.14	-0.7924	8.5656	0.33538	0.3323:0.0:0.6677:0.0	.	206;206;206;206;98	Q96FV3-3;C9J7R4;Q96FV3-4;Q96FV3;Q96FV3-2	.;.;.;TSN17_HUMAN;.	I	206;206;98;206;194;183;206	ENSP00000309036:V206I;ENSP00000385665:V206I;ENSP00000298564:V98I;ENSP00000422053:V206I;ENSP00000423957:V194I;ENSP00000425212:V183I;ENSP00000426650:V206I	ENSP00000298564:V98I	V	+	1	0	TSPAN17	176015718	0.878000	0.30173	0.067000	0.19924	0.654000	0.38779	1.159000	0.31749	-0.059000	0.13154	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1	1	0	1	92	253	0	79	1	1	64	105	0	79	2		0	0	0	0	0	2	1	1	91	244	0	77	2								-20.000000	1	1	121412	5	38	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5A	90249	broad.mit.edu	37	5	176304689	176304689	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176304689C>T	ENST00000329542.4	+	10	1894	c.1620C>T	c.(1618-1620)tgC>tgT	p.C540C	UNC5A_ENST00000261961.3_Silent_p.C500C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)			34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGCAGTCGTGCGAGGGCAGCT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000329542.4	1	1	hg19	CCDS34299.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	1	0	1	45	129	0	28	1	7.727928e-01	4	6	0	28	2		0	0	0	0	0	2	1	1	44	125	0	27	2								-4.897231	1	1	121230	1	20	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5A	90249	broad.mit.edu	37	5	176306485	176306485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176306485G>A	ENST00000329542.4	+	14	2633	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)			34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ACTCCACCTGGACAGGTGGGC	0.677000																								0							SO:0001583	missense			ENST00000329542.4	1	1	hg19	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407567	0.83340	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86297	-2.1;-2.1	5.06	5.06	0.68205	Death (2);DEATH-like (2);	0.059778	0.64402	D	0.000003	D	0.86053	0.5841	L	0.45581	1.43	0.51482	D	0.999926	B	0.28350	0.208	B	0.37091	0.241	T	0.83186	-0.0086	10	0.35671	T	0.21	-50.0007	17.1651	0.86814	0.0:0.0:1.0:0.0	.	787	Q6ZN44	UNC5A_HUMAN	N	787;747	ENSP00000332737:D787N;ENSP00000261961:D747N	ENSP00000261961:D747N	D	+	1	0	UNC5A	176239091	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.816000	0.86201	2.630000	0.89119	0.491000	0.48974	GAC		TCGA-IB-7651-01A-11D-2154-08	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	1	0	0	35	684	0	105	0	1.190219e-01	0	12	0	105	2		0	0	0	0	0	2	1	1	33	676	0	104	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.670000	0.460000	1.000000	0.640000	0.724978	0.670000	0	5.500000e-01	1
HK3	3101	broad.mit.edu	37	5	176308126	176308126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176308126G>A	ENST00000292432.5	-	19	2811	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)			47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GACCAGGGCCGCACCTTTGCC	0.662000																								0							SO:0001583	missense			ENST00000292432.5	1	1	hg19	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560395	0.65538	.	.	ENSG00000160883	ENST00000292432	D	0.99405	-5.84	5.22	5.22	0.72569	Hexokinase, C-terminal (1);	0.000000	0.49305	D	0.000149	D	0.99722	0.9892	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97363	0.9971	10	0.87932	D	0	-12.1194	17.5321	0.87817	0.0:0.0:1.0:0.0	.	907	P52790	HXK3_HUMAN	V	907	ENSP00000292432:A907V	ENSP00000292432:A907V	A	-	2	0	HK3	176240732	1.000000	0.71417	0.878000	0.34440	0.130000	0.20726	7.415000	0.80131	2.714000	0.92807	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1	1	0	1	46	223	0	40	0	9.998325e-01	0	66	0	40	2		0	0	0	0	0	2	1	1	44	220	0	39	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HK3	3101	broad.mit.edu	37	5	176317669	176317669	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176317669G>A	ENST00000292432.5	-	6	688	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)			47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TCAGCAGCTGGACCACATCCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000292432.5	1	1	hg19	CCDS4407.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1	1	0	1	233	1425	0	314	0	9.838511e-01	0	41	0	314	2		0	0	0	0	0	2	1	1	223	1383	0	313	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HK3	3101	broad.mit.edu	37	5	176318184	176318184	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176318184C>A	ENST00000292432.5	-	4	359	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)			47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ACCACGAAGTCTCCTTGCTCT	0.592000																								0							SO:0001583	missense			ENST00000292432.5	1	1	hg19	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998600	0.19121	.	.	ENSG00000160883	ENST00000292432	D	0.98617	-5.03	4.96	3.14	0.36123	Hexokinase, N-terminal (1);	0.207799	0.34046	N	0.004301	D	0.98661	0.9551	M	0.71206	2.165	0.36971	D	0.893828	D	0.89917	1.0	D	0.91635	0.999	D	0.99928	1.1298	10	0.87932	D	0	-27.9387	9.3444	0.38100	0.0:0.7609:0.0:0.2391	.	90	P52790	HXK3_HUMAN	Y	90	ENSP00000292432:D90Y	ENSP00000292432:D90Y	D	-	1	0	HK3	176250790	0.787000	0.28750	0.662000	0.29724	0.329000	0.28539	1.205000	0.32308	1.222000	0.43521	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1	1	0	1	106	284	0	77	0	9.903270e-01	0	22	0	77	2		0	0	0	0	0	2	1	1	106	278	0	76	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF346	23567	broad.mit.edu	37	5	176477887	176477887	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477887T>C	ENST00000358149.3	+	5	696	c.653T>C	c.(652-654)cTa>cCa	p.L218P	ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000503039.1_Missense_Mutation_p.L243P|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P|ZNF346_ENST00000503425.1_Missense_Mutation_p.L186P	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346			14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AAGCTCAAACTAATGGCACGC	0.552000																								0							SO:0001583	missense			ENST00000358149.3	1	1	hg19	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282534	0.80692	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.99;0.994;0.982	T	0.60357	-0.7279	10	0.27082	T	0.32	.	15.0933	0.72215	0.0:0.0:0.0:1.0	.	120;186;243;218	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	P	218;120;186;243;234;243	ENSP00000350869:L218P;ENSP00000423515:L120P;ENSP00000421212:L186P;ENSP00000261948:L243P;ENSP00000425725:L234P;ENSP00000424495:L243P	ENSP00000261948:L243P	L	+	2	0	ZNF346	176410493	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.107000	0.77047	1.948000	0.56530	0.533000	0.62120	CTA		TCGA-IB-7651-01A-11D-2154-08	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	0	0	0	10	398	0	88	1	2.618071e-01	2	35	0	88	2		0	0	0	0	0	2	1	9.967665e-01	9	394	0	87	2								-9.873548	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.370000	0.170000	1.000000	0.310000	0.484062	0.370000	0	2.500000e-01	1
ZNF346	23567	broad.mit.edu	37	5	176477892	176477892	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477892G>A	ENST00000358149.3	+	5	701	c.658G>A	c.(658-660)Gca>Aca	p.A220T	ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000503039.1_Missense_Mutation_p.A245T|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T|ZNF346_ENST00000503425.1_Missense_Mutation_p.A188T	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346			14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CAAACTAATGGCACGCTATGG	0.562000																								0							SO:0001583	missense			ENST00000358149.3	1	1	hg19	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487681	0.64074	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.21	5.21	0.72293	.	0.218203	0.47852	D	0.000208	T	0.36826	0.0981	L	0.27053	0.805	0.38824	D	0.955696	P;P;D;P	0.57571	0.852;0.911;0.98;0.929	B;B;P;B	0.49047	0.351;0.288;0.599;0.316	T	0.15206	-1.0445	10	0.32370	T	0.25	.	12.1606	0.54101	0.0784:0.0:0.9216:0.0	.	122;188;245;220	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	T	220;122;188;245;236;245	ENSP00000350869:A220T;ENSP00000423515:A122T;ENSP00000421212:A188T;ENSP00000261948:A245T;ENSP00000425725:A236T;ENSP00000424495:A245T	ENSP00000261948:A245T	A	+	1	0	ZNF346	176410498	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.441000	0.66569	2.405000	0.81733	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	1	0	1	82	324	0	87	1	9.974137e-01	9	29	0	87	2		0	0	0	0	0	2	1	1	80	321	0	86	2								-20.000000	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGFR4	2264	broad.mit.edu	37	5	176518013	176518013	+	Missense_Mutation	SNP	C	C	T	rs139464025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176518013C>T	ENST00000292408.4	+	5	756	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4			34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Palifermin(DB00039)|Ponatinib(DB08901)	CGTCAAGTTCCGCTGTCCAGC	0.612000										TSP Lung(9;0.080)														0							SO:0001583	missense			ENST00000292408.4	1	1	hg19	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632707	0.87660	2.27E-4	0.0	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;0.999	D	0.85843	0.1399	10	0.66056	D	0.02	.	17.5207	0.87786	0.0:1.0:0.0:0.0	.	171;171;171;171	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	C	171;171;171;171;171;171;283	ENSP00000292408:R171C;ENSP00000424905:R171C;ENSP00000377259:R171C;ENSP00000424960:R171C;ENSP00000292410:R171C;ENSP00000377254:R171C	ENSP00000292408:R171C	R	+	1	0	FGFR4	176450619	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.179000	0.50887	2.470000	0.83445	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1	1	0	1	71	153	0	54	1	1	78	81	0	54	2		0	0	0	0	0	2	1	1	71	150	0	53	2								-8.148112	1	1	121412	1	34	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGFR4	2264	broad.mit.edu	37	5	176522351	176522351	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176522351C>A	ENST00000292408.4	+	12	1785	c.1540C>A	c.(1540-1542)Ctg>Atg	p.L514M	FGFR4_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M|FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4			34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Palifermin(DB00039)|Ponatinib(DB08901)	TGACAAGGACCTGGCCGACCT	0.602000										TSP Lung(9;0.080)														0							SO:0001583	missense			ENST00000292408.4	0	1	hg19	CCDS4410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.495162|2.495162	0.44352|0.44352	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076	D;D;D;D;D|.	0.83250|.	-1.7;-1.7;-1.7;-1.7;-1.7|.	4.62|4.62	-4.21|-4.21	0.03812|0.03812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52948|0.52948	0.1766|0.1766	L|L	0.41710|0.41710	1.295|1.295	0.50632|0.50632	D|D	0.999885|0.999885	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.52953|0.52953	-0.8506|-0.8506	10|5	0.37606|.	T|.	0.19|.	.|.	14.2483|14.2483	0.66001|0.66001	0.0:0.6208:0.0:0.3792|0.0:0.6208:0.0:0.3792	.|.	446;474;514|.	B4DVP5;P22455-2;P22455|.	.;.;FGFR4_HUMAN|.	M|H	514;446;514;474;474;742|145	ENSP00000292408:L514M;ENSP00000377259:L446M;ENSP00000424960:L514M;ENSP00000292410:L474M;ENSP00000377254:L474M|.	ENSP00000292408:L514M|.	L|P	+|+	1|2	2|0	FGFR4|FGFR4	176454957|176454957	0.108000|0.108000	0.22018|0.22018	0.951000|0.951000	0.38953|0.38953	0.442000|0.442000	0.32017|0.32017	-0.007000|-0.007000	0.12810|0.12810	-0.609000|-0.609000	0.05724|0.05724	-0.459000|-0.459000	0.05422|0.05422	CTG|CCT		TCGA-IB-7651-01A-11D-2154-08	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1	0	0	0	12	354	0	73	1	9.571893e-01	12	148	0	73	2		0	0	0	0	0	2	1	9.990294e-01	10	348	0	72	2								-3.318794	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.480000	0.240000	1.000000	0.430000	0.571799	0.480000	0	3.400000e-01	1
NSD1	64324	broad.mit.edu	37	5	176638654	176638654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176638654C>A	ENST00000439151.2	+	5	3299	c.3254C>A	c.(3253-3255)cCt>cAt	p.P1085H	NSD1_ENST00000361032.4_Missense_Mutation_p.P982H|NSD1_ENST00000347982.4_Missense_Mutation_p.P816H|NSD1_ENST00000354179.4_Missense_Mutation_p.P816H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1			96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)		GCAGAAGATCCTAGTAAAGAG	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)					Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0							SO:0001583	missense	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	ENST00000439151.2	1	1	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913458	0.17907	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.04;-3.04;-3.04;-3.15	4.35	1.55	0.23275	.	0.609322	0.14615	N	0.308762	D	0.84275	0.5436	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.69198	-0.5208	9	.	.	.	.	4.1341	0.10162	0.1629:0.5913:0.1574:0.0885	.	816;982;1085	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	816;1085;816;982	ENSP00000346111:P816H;ENSP00000395929:P1085H;ENSP00000343209:P816H;ENSP00000354310:P982H	.	P	+	2	0	NSD1	176571260	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	0.727000	0.25999	0.205000	0.20568	-0.257000	0.10917	CCT		TCGA-IB-7651-01A-11D-2154-08	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	1	0	1	144	386	0	109	1	9.999994e-01	25	33	0	109	2		0	0	0	0	0	2	1	1	143	373	0	105	2								-7.475054	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NSD1	64324	broad.mit.edu	37	5	176639155	176639155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176639155G>A	ENST00000439151.2	+	5	3800	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E|NSD1_ENST00000347982.4_Missense_Mutation_p.G983E|NSD1_ENST00000354179.4_Missense_Mutation_p.G983E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1			96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)		AAGGAGCCAGGAATTCCCAGT	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)					Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0							SO:0001583	missense	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	ENST00000439151.2	1	1	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441657	0.63067	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93712	-3.16;-3.16;-3.16;-3.27	4.68	2.86	0.33363	.	0.316419	0.22860	N	0.054747	D	0.90393	0.6993	N	0.24115	0.695	0.31661	N	0.645574	D;D;D	0.56287	0.975;0.975;0.958	P;P;P	0.56343	0.741;0.796;0.555	D	0.87578	0.2482	10	0.39692	T	0.17	.	6.6042	0.22716	0.092:0.0:0.7293:0.1787	.	983;1149;1252	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	E	983;1252;983;1149	ENSP00000346111:G983E;ENSP00000395929:G1252E;ENSP00000343209:G983E;ENSP00000354310:G1149E	ENSP00000343209:G983E	G	+	2	0	NSD1	176571761	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.821000	0.27338	0.685000	0.31468	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	1	0	1	17	213	0	59	1	9.560194e-01	7	61	0	59	2		0	0	0	0	0	2	1	9.999634e-01	16	208	0	59	2								-19.989720	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.610000	1.000000	1.000000	0.931044	0.990000	1	8.000000e-01	1
NSD1	64324	broad.mit.edu	37	5	176722104	176722104	+	Nonsense_Mutation	SNP	C	C	T	rs142579918	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176722104C>T	ENST00000439151.2	+	23	7780	c.7735C>T	c.(7735-7737)Cag>Tag	p.Q2579*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1			96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)		CCTGGTGAAGCAGGCGAAGCA	0.607000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)					Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0							SO:0001587	stop_gained	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	ENST00000439151.2	0	1	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	42	9.414138	0.99164	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	3.1	3.1	0.35709	.	0.288101	0.25250	N	0.032027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.6065	0.62050	0.0:1.0:0.0:0.0	.	.	.	.	X	2310;2579;2310;2476	.	ENSP00000343209:Q2310X	Q	+	1	0	NSD1	176654710	0.681000	0.27614	1.000000	0.80357	0.231000	0.25187	1.008000	0.29872	2.070000	0.61991	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	0	0	1	81	245	1	51	1	9.998771e-01	31	52	1	51	7		0	0	0	0	0	2	1	1	80	239	1	50	20								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB24	53917	broad.mit.edu	37	5	176729783	176729783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176729783G>A	ENST00000303251.6	-	3	654	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.R79W|RAB24_ENST00000303270.6_Missense_Mutation_p.R50W|PRELID1_ENST00000303204.4_5'Flank	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TTGGCACCCCGATAGTAGATT	0.562000																								0							SO:0001583	missense			ENST00000303251.6	1	1	hg19	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168804	0.78339	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.73047	-0.71;-0.71;-0.71	5.49	3.63	0.41609	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.88855	0.6550	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91429	0.5164	10	0.87932	D	0	-0.5622	14.0463	0.64706	0.0:0.0:0.7244:0.2755	.	79;50	Q969Q5;F8W8H5	RAB24_HUMAN;.	W	79;79;50	ENSP00000377235:R79W;ENSP00000304376:R79W;ENSP00000302085:R50W	ENSP00000304376:R79W	R	-	1	2	RAB24	176662389	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	2.973000	0.49264	0.617000	0.30160	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	1	0	1	127	608	0	167	1	1	21	163	0	167	2		0	0	0	0	0	2	1	1	123	581	1	159	16								-3.090335	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMAN2	10960	broad.mit.edu	37	5	176764242	176764242	+	Missense_Mutation	SNP	C	C	T	rs142614645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176764242C>T	ENST00000303127.7	-	6	889	c.685G>A	c.(685-687)Gac>Aac	p.D229N	LMAN2_ENST00000506310.1_5'Flank|LMAN2_ENST00000515209.1_Missense_Mutation_p.D229N	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2			16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TCCTCCAGGTCGGTCATCACC	0.662000																								0							SO:0001583	missense			ENST00000303127.7	1	1	hg19	CCDS4417.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693763	0.88735	0.0	1.16E-4	ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209;ENST00000502560;ENST00000513877	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.88	5.88	0.94601	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.096018	0.64402	D	0.000001	T	0.77219	0.4098	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.67900	0.897;0.954	T	0.72786	-0.4188	10	0.33940	T	0.23	-19.5083	19.8332	0.96644	0.0:1.0:0.0:0.0	.	229;229	Q12907;D6RBV2	LMAN2_HUMAN;.	N	229;158;229;222;158	ENSP00000303366:D229N;ENSP00000423998:D229N;ENSP00000425229:D222N;ENSP00000427377:D158N	ENSP00000303366:D229N	D	-	1	0	LMAN2	176696848	1.000000	0.71417	0.954000	0.39281	0.368000	0.29767	7.423000	0.80229	2.789000	0.95967	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	1	0	1	46	283	0	51	1	1	324	1016	0	51	2		0	0	0	0	0	2	1	1	44	280	0	50	2								-20.000000	1	1	121412	2	33	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LMAN2	10960	broad.mit.edu	37	5	176778195	176778195	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176778195C>T	ENST00000303127.7	-	2	498	c.294G>A	c.(292-294)gaG>gaA	p.E98E	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Silent_p.E98E	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2			16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGATAGAGCCCTCTTTGCTGC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000303127.7	1	1	hg19	CCDS4417.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	1	0	0	77	753	0	148	1	1	139	994	0	148	2		0	0	0	0	0	2	1	1	77	735	0	144	2								-3.075755	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.980000	1.000000	1.000000	0.998656	0.990000	1	9.900000e-01	1
RGS14	10636	broad.mit.edu	37	5	176785034	176785034	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176785034G>T	ENST00000408923.3	+	1	197	c.9G>T	c.(7-9)ggG>ggT	p.G3G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14			12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GCATGCCAGGGAAGCCCAAGC	0.751000													NSCLC(47;353 1896 28036)											0							SO:0001819	synonymous_variant			ENST00000408923.3	1	1	hg19	CCDS43405.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	1	0	0	10	62	0	18	0	2.378378e-02	0	2	0	18	2		0	0	0	0	0	2	1	9.975693e-01	10	62	0	18	2								-18.576550	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	0.997224	0.990000	1	9.900000e-01	1
RGS14	10636	broad.mit.edu	37	5	176795177	176795177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176795177C>T	ENST00000408923.3	+	8	947	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14			12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GGACTGCAAACGCCGCCTTGC	0.647000													NSCLC(47;353 1896 28036)											0							SO:0001819	synonymous_variant			ENST00000408923.3	1	1	hg19	CCDS43405.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.088	0.384607	0.11524	2.5E-4	0.0	ENSG00000169220	ENST00000511890	.	.	.	3.64	0.788	0.18601	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	1.3967	0.02262	0.1395:0.3579:0.1371:0.3656	.	.	.	.	M	123	.	.	T	+	2	0	RGS14	176727783	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.014000	0.13333	-0.050000	0.13356	-0.424000	0.05967	ACG		TCGA-IB-7651-01A-11D-2154-08	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	0	0	1	90	262	1	66	1	9.999786e-01	45	37	1	66	6		0	0	0	0	0	2	1	1	90	256	1	64	18								-20.000000	1	1	120930	2	27	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC34A1	6569	broad.mit.edu	37	5	176813105	176813105	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813105C>T	ENST00000324417.5	+	3	318	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A76V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1			24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CCACTGCCTGCCAAGCTGGCC	0.687000																								0							SO:0001583	missense			ENST00000324417.5	1	1	hg19	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561095	0.45590	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	T;T	0.46819	0.86;1.49	5.06	4.19	0.49359	.	0.357702	0.26467	N	0.024205	T	0.31327	0.0793	L	0.27053	0.805	0.23056	N	0.998362	B	0.02656	0.0	B	0.04013	0.001	T	0.14504	-1.0470	10	0.39692	T	0.17	-19.1714	7.0723	0.25185	0.0:0.718:0.1893:0.0927	.	76	Q06495	NPT2A_HUMAN	V	76	ENSP00000423022:A76V;ENSP00000321424:A76V	ENSP00000321424:A76V	A	+	2	0	SLC34A1	176745711	0.147000	0.22687	0.999000	0.59377	0.917000	0.54804	-0.007000	0.12810	1.364000	0.46038	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	1	0	1	80	209	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	80	204	0	37	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC34A1	6569	broad.mit.edu	37	5	176813505	176813505	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813505C>T	ENST00000324417.5	+	5	561	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SLC34A1_ENST00000512593.1_Missense_Mutation_p.T157I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1			24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ATCCTGGTGACCGTGCTGGTG	0.627000																								0							SO:0001583	missense			ENST00000324417.5	1	1	hg19	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141158	0.94560	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.94138	-3.36;-3.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.98245	0.9419	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99297	1.0900	10	0.87932	D	0	-28.0744	19.6385	0.95748	0.0:1.0:0.0:0.0	.	157	Q06495	NPT2A_HUMAN	I	157	ENSP00000423022:T157I;ENSP00000321424:T157I	ENSP00000321424:T157I	T	+	2	0	SLC34A1	176746111	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	7.770000	0.85390	2.648000	0.89879	0.563000	0.77884	ACC		TCGA-IB-7651-01A-11D-2154-08	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	1	0	1	89	456	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	88	447	0	112	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC34A1	6569	broad.mit.edu	37	5	176820710	176820710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176820710T>C	ENST00000324417.5	+	9	1043	c.952T>C	c.(952-954)Tcc>Ccc	p.S318P	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1			24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CACCTCCATGTCCAGAGCAGA	0.557000																								0							SO:0001583	missense			ENST00000324417.5	1	1	hg19	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	T	2.254	-0.370791	0.05034	.	.	ENSG00000131183	ENST00000324417	T	0.32988	1.43	5.39	3.42	0.39159	.	0.942630	0.08896	N	0.877946	T	0.13243	0.0321	N	0.04260	-0.245	0.30022	N	0.814269	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.25751	T	0.34	-27.075	3.302	0.06987	0.0:0.465:0.3367:0.1982	.	318	Q06495	NPT2A_HUMAN	P	318	ENSP00000321424:S318P	ENSP00000321424:S318P	S	+	1	0	SLC34A1	176753316	0.348000	0.24861	0.418000	0.26571	0.016000	0.09150	0.357000	0.20199	0.494000	0.27859	0.379000	0.24179	TCC		TCGA-IB-7651-01A-11D-2154-08	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	1	0	0	18	296	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	9.999772e-01	18	284	0	89	2								-5.472885	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.820000	0.480000	1.000000	1.000000	0.818648	0.820000	0	6.200000e-01	1
F12	2161	broad.mit.edu	37	5	176830605	176830605	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176830605C>A	ENST00000253496.3	-	11	1312	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)			12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Ethanolamine Oleate(DB06689)	ACCGTCAGATCCTCGGGTGCG	0.692000									Hereditary Angioedema															0							SO:0001583	missense	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	ENST00000253496.3	0	1	hg19	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844716	0.32606	.	.	ENSG00000131187	ENST00000253496	D	0.89810	-2.57	5.58	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.996761	0.08126	N	0.993933	D	0.82724	0.5099	L	0.35414	1.06	0.80722	D	1	P	0.49253	0.921	B	0.41440	0.357	T	0.78362	-0.2233	10	0.54805	T	0.06	.	6.8453	0.23984	0.0:0.5317:0.3722:0.096	.	422	P00748	FA12_HUMAN	Y	422	ENSP00000253496:D422Y	ENSP00000253496:D422Y	D	-	1	0	F12	176763211	0.426000	0.25506	0.991000	0.47740	0.135000	0.20990	0.288000	0.18939	1.334000	0.45468	0.491000	0.48974	GAT		TCGA-IB-7651-01A-11D-2154-08	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1	1	0	1	34	103	0	11	1	9.999943e-01	31	32	0	11	2		0	0	0	0	0	2	1	1	34	102	0	11	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRK6	2870	broad.mit.edu	37	5	176859018	176859018	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176859018C>T	ENST00000355472.5	+	3	339	c.171C>T	c.(169-171)tgC>tgT	p.C57C	GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C|GRK6_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000355958.5_Silent_p.C57C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6			25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ACAGCCTGTGCGAGCGGCAGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000355472.5	1	1	hg19	CCDS34303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	1	0	1	199	632	0	133	1	1	38	67	0	133	2		0	0	0	0	0	2	1	1	198	624	0	132	2								-20.000000	1	1	121400	1	38	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRK6	2870	broad.mit.edu	37	5	176860543	176860543	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176860543G>A	ENST00000355472.5	+	8	772	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T|GRK6_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000355958.5_Missense_Mutation_p.A202T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6			25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ACAGGTGTGCGCCTGCCAGGT	0.602000																								0							SO:0001583	missense			ENST00000355472.5	1	1	hg19	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422879	0.96111	.	.	ENSG00000198055	ENST00000506296;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T	0.24723	3.14;1.84;1.84;1.84;1.84;1.84	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.992;0.992;0.997	T	0.32719	-0.9896	10	0.87932	D	0	-21.2385	19.9983	0.97395	0.0:0.0:1.0:0.0	.	202;172;202;202	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	170;202;202;202;202;202	ENSP00000421055:A170T;ENSP00000347655:A202T;ENSP00000427581:A202T;ENSP00000377204:A202T;ENSP00000348230:A202T;ENSP00000433511:A202T	ENSP00000347655:A202T	A	+	1	0	GRK6	176793149	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	9.807000	0.99171	2.724000	0.93272	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	1	0	1	151	307	0	75	1	1	47	93	0	75	2		0	0	0	0	0	2	1	1	149	300	0	72	2								-13.594810	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRK6	2870	broad.mit.edu	37	5	176867757	176867757	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176867757G>A	ENST00000355472.5	+	14	1629	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	GRK6_ENST00000528793.1_Silent_p.K487K|PRR7-AS1_ENST00000514846.1_RNA|PRR7-AS1_ENST00000511565.1_RNA|GRK6_ENST00000393576.3_Silent_p.K453K|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000355958.5_Silent_p.K487K	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6			25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CTACGGTCAAGGGCGTGGAGC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000355472.5	1	1	hg19	CCDS34303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	1	0	1	98	341	0	82	1	1	31	71	0	82	2		0	0	0	0	0	2	1	1	97	333	0	79	2								-3.689336	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DBN1	1627	broad.mit.edu	37	5	176885542	176885542	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176885542G>A	ENST00000309007.5	-	12	1512	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	DBN1_ENST00000292385.5_Silent_p.V433V|DBN1_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000393565.1_Silent_p.V477V|DBN1_ENST00000393563.4_Silent_p.V163V	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1			25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GAGCAGCCAGGACAGCCTGCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000309007.5	1	1	hg19	CCDS4420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	1	0	1	64	387	0	71	1	9.999999e-01	32	114	0	71	2		0	0	0	0	0	2	1	1	64	381	0	70	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DBN1	1627	broad.mit.edu	37	5	176886221	176886221	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176886221G>A	ENST00000309007.5	-	11	1223	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	DBN1_ENST00000292385.5_Missense_Mutation_p.T337M|DBN1_ENST00000512501.1_Missense_Mutation_p.T67M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M|DBN1_ENST00000393563.4_Missense_Mutation_p.T67M	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1			25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CGGGCTCCGCGTGGGGATGGG	0.687000																								0							SO:0001583	missense			ENST00000309007.5	0	1	hg19	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921700	0.33908	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.33438	1.46;1.46;1.42;1.41;1.46	4.58	4.58	0.56647	.	1.166000	0.06058	N	0.657899	T	0.29882	0.0747	N	0.14661	0.345	0.35351	D	0.787329	D;D;P;D	0.61080	0.988;0.989;0.798;0.981	P;P;B;P	0.50896	0.653;0.628;0.271;0.46	T	0.09487	-1.0672	10	0.36615	T	0.2	-0.4059	11.2259	0.48884	0.0:0.1858:0.8142:0.0	.	285;381;335;337	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	M	335;337;381;67;67	ENSP00000308532:T335M;ENSP00000292385:T337M;ENSP00000377195:T381M;ENSP00000423208:T67M;ENSP00000377193:T67M	ENSP00000292385:T337M	T	-	2	0	DBN1	176818827	0.980000	0.34600	0.939000	0.37840	0.564000	0.35744	1.979000	0.40608	2.260000	0.74910	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	0	0	0	14	662	0	101	1	9.970103e-01	26	428	0	101	2		0	0	0	0	0	2	1	9.996976e-01	14	642	0	100	2								-3.262864	1	1	121396	1	30	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.300000	0.150000	1.000000	0.270000	0.435948	0.300000	0	2.200000e-01	1
DOK3	79930	broad.mit.edu	37	5	176931297	176931297	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176931297C>A	ENST00000357198.4	-	6	1182	c.1178G>T	c.(1177-1179)gGc>gTc	p.G393V	DOK3_ENST00000501403.2_Missense_Mutation_p.G337V|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron|RP11-1334A24.6_ENST00000506025.1_RNA	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3			13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		GTGCTCATTGCCTGGGGGCCC	0.697000																								0							SO:0001583	missense			ENST00000357198.4	0	1	hg19	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.583989	0.00872	.	.	ENSG00000146094	ENST00000357198;ENST00000501403	T;T	0.27557	2.35;1.66	3.85	-7.33	0.01431	.	2.907560	0.01601	N	0.022041	T	0.18759	0.0450	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11966	-1.0566	10	0.28530	T	0.3	-7.9429	10.3185	0.43751	0.0:0.346:0.4939:0.1601	.	393	Q7L591	DOK3_HUMAN	V	393;337	ENSP00000349727:G393V;ENSP00000421688:G337V	ENSP00000349727:G393V	G	-	2	0	DOK3	176863903	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.918000	0.04021	-1.744000	0.01338	0.306000	0.20318	GGC		TCGA-IB-7651-01A-11D-2154-08	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	1	0	0	7	114	0	18	0	6.085124e-01	0	33	0	18	2		0	0	0	0	0	2	1	9.816342e-01	7	114	0	18	2								-11.550920	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.890000	0.380000	1.000000	1.000000	0.825710	0.890000	1	5.800000e-01	1
DDX41	51428	broad.mit.edu	37	5	176940011	176940011	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176940011C>T	ENST00000507955.1	-	12	1826		c.e12+1		DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		GCTGCACTCACAGGCGGGGGT	0.637000																								0							SO:0001630	splice_region_variant			ENST00000507955.1	1	1	hg19	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839580	0.71488	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1173	0.65161	0.0:0.9279:0.0:0.0721	.	.	.	.	.	-1	.	.	.	-	.	.	DDX41	176872617	1.000000	0.71417	0.896000	0.35187	0.367000	0.29736	5.691000	0.68249	1.455000	0.47813	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	1	0	0	76	907	0	140	1	5.252896e-02	2	3	0	140	2		0	0	0	0	0	2	1	1	75	869	0	125	2								-16.317270	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.810000	1.000000	1.000000	0.973436	0.990000	1	9.200000e-01	1
FAM193B	54540	broad.mit.edu	37	5	176951655	176951655	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176951655G>A	ENST00000514747.1	-	6	1875	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	FAM193B_ENST00000443375.2_Silent_p.S576S|FAM193B_ENST00000329540.5_Silent_p.S235S|FAM193B_ENST00000508298.1_5'Flank	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B			4					TTGGCTCCTCGGAGCTGGGGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000514747.1	1	1	hg19	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224585	0.01530	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.75	-7.75	0.01236	.	.	.	.	.	.	.	.	.	.	.	0.36557	D	0.872203	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2505	2.8772	0.05635	0.2684:0.154:0.4011:0.1765	.	.	.	.	X	295	.	.	R	-	1	2	FAM193B	176884261	0.000000	0.05858	0.051000	0.19133	0.046000	0.14306	-0.160000	0.10041	-1.158000	0.02811	-0.459000	0.05422	CGA		TCGA-IB-7651-01A-11D-2154-08	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	1	0	1	13	196	0	47	1	8.302269e-01	7	44	0	47	2		0	0	0	0	0	2	1	9.995575e-01	13	194	0	47	2								-3.223962	1	1	120860	2	20	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.910000	0.480000	1.000000	1.000000	0.858180	0.910000	1	6.600000e-01	1
FAM193B	54540	broad.mit.edu	37	5	176959576	176959576	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176959576G>A	ENST00000514747.1	-	5	1191	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	FAM193B_ENST00000443375.2_Silent_p.C268C|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_5'UTR	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B			4					CATCTGCCTCGCAGGGCTGGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000514747.1	0	1	hg19	CCDS54954.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	1	0	1	8	47	0	12	0	9.532020e-01	1	34	0	12	2		0	0	0	0	0	2	1	9.905174e-01	8	46	0	12	2								-15.688200	1	1	120890	54	42	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.980000	1.000000	1.000000	0.996298	0.990000	1	9.900000e-01	1
B4GALT7	11285	broad.mit.edu	37	5	177034312	177034312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177034312G>A	ENST00000029410.5	+	3	534	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7			7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GGTTCAACCGGGCAGCGCTCA	0.647000											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000029410.5	1	1	hg19	CCDS4429.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	1	0	1	18	61	0	23	1	1	61	97	0	23	2		0	0	0	0	0	2	1	9.999891e-01	18	58	0	22	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PROP1	5626	broad.mit.edu	37	5	177419780	177419780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177419780C>T	ENST00000308304.2	-	3	919	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1			13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GGGCAGATGGCCGGCAGGGGC	0.627000																								0							SO:0001583	missense			ENST00000308304.2	1	1	hg19	CCDS4430.1	.	.	.	.	.	.	.	.	.	.	.	7.249	0.602783	0.13939	.	.	ENSG00000175325	ENST00000308304	D	0.88975	-2.45	2.22	1.27	0.21489	.	0.877909	0.09470	N	0.797763	T	0.80281	0.4594	L	0.32530	0.975	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.67522	-0.5649	10	0.38643	T	0.18	-0.2366	5.7454	0.18118	0.318:0.682:0.0:0.0	.	204	O75360	PROP1_HUMAN	D	204	ENSP00000311290:G204D	ENSP00000311290:G204D	G	-	2	0	PROP1	177352386	0.000000	0.05858	0.386000	0.26170	0.021000	0.10359	-0.868000	0.04236	0.455000	0.26910	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	1	0	0	32	75	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1	27	70	0	22	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PROP1	5626	broad.mit.edu	37	5	177421242	177421242	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177421242C>T	ENST00000308304.2	-	2	515	c.207G>A	c.(205-207)cgG>cgA	p.R69R		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1			13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GGTGGCGGCGCCGGGAGTGCG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000308304.2	1	1	hg19	CCDS4430.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	1	0	0	75	363	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	75	356	0	66	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
N4BP3	23138	broad.mit.edu	37	5	177546611	177546611	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177546611C>T	ENST00000274605.5	+	2	386	c.27C>T	c.(25-27)ggC>ggT	p.G9G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3			9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GCCCTGCTGGCATTGCCATGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000274605.5	1	1	hg19	CCDS34307.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	0	0	1	90	325	0	75	1	7.236128e-01	6	5	0	75	2		0	0	0	0	0	2	1	1	86	318	0	72	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
N4BP3	23138	broad.mit.edu	37	5	177547263	177547263	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547263G>T	ENST00000274605.5	+	3	774	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3			9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GTCCCACAAAGGCCAGAAGCT	0.677000																								0							SO:0001583	missense			ENST00000274605.5	1	1	hg19	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433364	0.62844	.	.	ENSG00000145911	ENST00000274605	T	0.00545	6.67	5.13	5.13	0.70059	.	0.305258	0.39544	N	0.001337	T	0.01454	0.0047	L	0.43152	1.355	0.41753	D	0.989678	D	0.89917	1.0	D	0.87578	0.998	T	0.73129	-0.4080	10	0.66056	D	0.02	-36.6317	13.9377	0.64034	0.0:0.0:1.0:0.0	.	139	O15049	N4BP3_HUMAN	C	139	ENSP00000274605:G139C	ENSP00000274605:G139C	G	+	1	0	N4BP3	177479869	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.502000	0.60400	2.668000	0.90789	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	1	0	1	28	244	0	31	0	2.868812e-01	0	10	0	31	2		0	0	0	0	0	2	1	1	29	240	0	31	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.950000	1.000000	1.000000	0.996908	0.990000	1	9.900000e-01	1
N4BP3	23138	broad.mit.edu	37	5	177547450	177547450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547450C>A	ENST00000274605.5	+	3	961	c.602C>A	c.(601-603)cCt>cAt	p.P201H		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3			9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GGTCGCAGTCCTGGTACTGGC	0.677000																								0							SO:0001583	missense			ENST00000274605.5	1	1	hg19	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018433	0.19355	.	.	ENSG00000145911	ENST00000274605	T	0.52526	0.66	4.12	4.12	0.48240	.	0.545059	0.20739	N	0.086573	T	0.34366	0.0895	N	0.19112	0.55	0.42593	D	0.993259	B	0.32693	0.38	B	0.37198	0.243	T	0.09509	-1.0671	10	0.15066	T	0.55	-11.2901	14.6728	0.68956	0.0:1.0:0.0:0.0	.	201	O15049	N4BP3_HUMAN	H	201	ENSP00000274605:P201H	ENSP00000274605:P201H	P	+	2	0	N4BP3	177480056	0.006000	0.16342	0.719000	0.30619	0.142000	0.21351	1.188000	0.32102	2.598000	0.87819	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	0	0	1	151	484	1	105	1	9.207498e-01	11	5	1	105	2		0	0	0	0	0	2	1	1	148	473	1	104	20								-5.063448	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RMND5B	64777	broad.mit.edu	37	5	177569660	177569660	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177569660G>A	ENST00000515098.1	+	5	567	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RMND5B_ENST00000542098.1_Silent_p.V59V|RMND5B_ENST00000313386.4_Silent_p.V72V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)			17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AAGATACGGTGCAGAAACTGG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000515098.1	1	1	hg19	CCDS4431.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	1	0	1	186	496	0	110	1	1	45	62	0	110	2		0	0	0	0	0	2	1	1	182	491	0	108	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF354A	6940	broad.mit.edu	37	5	178139061	178139061	+	Nonstop_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139061C>A	ENST00000335815.2	-	5	2015	c.1818G>T	c.(1816-1818)taG>taT	p.*606Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A			19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AATCTACTTTCTAGGGGTCCT	0.348000																								0							SO:0001578	stop_lost			ENST00000335815.2	0	1	hg19	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.017445	0.00418	.	.	ENSG00000169131	ENST00000335815	.	.	.	4.28	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6622	0.17674	0.0:0.6309:0.1647:0.2043	.	.	.	.	Y	606	.	.	X	-	3	2	ZNF354A	178071667	.	.	0.380000	0.26093	0.014000	0.08584	.	.	0.542000	0.28846	-0.122000	0.15005	TAG		TCGA-IB-7651-01A-11D-2154-08	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	0	0	1	59	269	0	54	1	9.992978e-01	16	36	0	54	2		0	0	0	0	0	2	1	1	58	268	0	54	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF354A	6940	broad.mit.edu	37	5	178139568	178139568	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139568A>C	ENST00000335815.2	-	5	1508	c.1311T>G	c.(1309-1311)ttT>ttG	p.F437L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A			19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TACAATTATAAAACTTCTCTC	0.363000																								0							SO:0001583	missense			ENST00000335815.2	1	1	hg19	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058668	0.36277	.	.	ENSG00000169131	ENST00000335815	T	0.16897	2.31	4.71	-0.432	0.12291	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.257680	0.20616	N	0.088869	T	0.03564	0.0102	N	0.00459	-1.475	0.32908	D	0.514063	B	0.06786	0.001	B	0.06405	0.002	T	0.19451	-1.0305	10	0.42905	T	0.14	-4.5652	5.5901	0.17297	0.3554:0.4687:0.1759:0.0	.	437	O60765	Z354A_HUMAN	L	437	ENSP00000337122:F437L	ENSP00000337122:F437L	F	-	3	2	ZNF354A	178072174	0.001000	0.12720	0.999000	0.59377	0.794000	0.44872	-0.793000	0.04589	0.062000	0.16340	-0.375000	0.07067	TTT		TCGA-IB-7651-01A-11D-2154-08	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	1	0	1	100	462	0	101	1	9.985634e-01	7	40	0	101	2		0	0	0	0	0	2	1	1	92	456	0	101	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF354A	6940	broad.mit.edu	37	5	178152398	178152398	+	Missense_Mutation	SNP	C	C	T	rs145090436	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178152398C>T	ENST00000335815.2	-	4	432	c.235G>A	c.(235-237)Ggt>Agt	p.G79S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A			19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ACGCCAGAACCGTCTTTCTCC	0.527000																								0							SO:0001583	missense			ENST00000335815.2	1	1	hg19	CCDS4438.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.542	0.100574	0.08731	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.06449	3.3;6.03	3.25	0.274	0.15654	Krueppel-associated box (1);	.	.	.	.	T	0.04497	0.0123	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48468	-0.9033	9	0.10902	T	0.67	-1.4818	7.6338	0.28255	0.0:0.3221:0.0:0.6779	.	79	O60765	Z354A_HUMAN	S	79	ENSP00000337122:G79S;ENSP00000429675:G79S	ENSP00000337122:G79S	G	-	1	0	ZNF354A	178085004	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.242000	0.02908	-0.220000	0.09988	-1.347000	0.01240	GGT		TCGA-IB-7651-01A-11D-2154-08	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	1	0	1	141	682	0	183	1	9.991743e-01	12	40	0	183	2		0	0	0	0	0	2	1	1	139	672	0	182	2								-2.349740	0	1	121412	4	38	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF354B	117608	broad.mit.edu	37	5	178310195	178310195	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310195T>C	ENST00000322434.3	+	5	968	c.742T>C	c.(742-744)Tta>Cta	p.L248L	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B			21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TAAAGAATGTTTAAAAGCTTT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000322434.3	1	1	hg19	CCDS4439.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	1	0	0	172	513	0	124	1	8.419616e-01	4	8	0	124	2		0	0	0	0	0	2	1	1	166	505	0	124	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF354B	117608	broad.mit.edu	37	5	178310832	178310832	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310832A>C	ENST00000322434.3	+	5	1605	c.1379A>C	c.(1378-1380)cAt>cCt	p.H460P	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B			21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GAGCGAATTCATACTGGAGAA	0.378000																								0							SO:0001583	missense			ENST00000322434.3	1	1	hg19	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276777	0.40294	.	.	ENSG00000178338	ENST00000322434	T	0.67698	-0.28	3.68	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74997	0.3790	H	0.95079	3.62	0.39204	D	0.963207	B	0.29886	0.26	B	0.34418	0.182	T	0.75434	-0.3319	9	0.87932	D	0	-51.6748	8.1574	0.31178	0.7958:0.2042:0.0:0.0	.	460	Q96LW1	Z354B_HUMAN	P	460	ENSP00000327143:H460P	ENSP00000327143:H460P	H	+	2	0	ZNF354B	178243438	1.000000	0.71417	0.704000	0.30370	0.600000	0.36913	6.232000	0.72313	0.470000	0.27294	0.454000	0.30748	CAT		TCGA-IB-7651-01A-11D-2154-08	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	1	0	1	116	383	0	87	1	9.534309e-01	3	16	0	87	2		0	0	0	0	0	2	1	1	112	371	0	86	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFP2	80108	broad.mit.edu	37	5	178358719	178358719	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178358719T>C	ENST00000361362.2	+	5	935	c.405T>C	c.(403-405)tgT>tgC	p.C135C	ZFP2_ENST00000503510.2_Silent_p.C135C|ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000520301.1_Silent_p.C135C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein			20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GTAATGTATGTGGGAAACACT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000361362.2	1	1	hg19	CCDS4440.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	1	0	1	88	266	0	65	0	0	1	0	0	65	2		0	0	0	0	0	2	1	1	87	256	0	65	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM6	2916	broad.mit.edu	37	5	178409946	178409946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178409946G>T	ENST00000517717.1	-	10	2439	c.2401C>A	c.(2401-2403)Ccc>Acc	p.P801T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P801T			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6			55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AAGAAGATGGGCACGAATGCC	0.577000																								0							SO:0001583	missense			ENST00000517717.1	1	1	hg19	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124804	0.77436	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.90563	-2.69;-2.69	4.79	4.79	0.61399	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96577	0.8883	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97652	1.0155	9	0.87932	D	0	.	15.7151	0.77661	0.0:0.0:1.0:0.0	.	801;95	O15303;Q5HYM4	GRM6_HUMAN;.	T	801	ENSP00000231188:P801T;ENSP00000430767:P801T	ENSP00000231188:P801T	P	-	1	0	GRM6	178342552	1.000000	0.71417	0.990000	0.47175	0.714000	0.41099	9.661000	0.98601	2.387000	0.81309	0.313000	0.20887	CCC		TCGA-IB-7651-01A-11D-2154-08	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	1	0	1	67	340	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	66	334	0	68	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM6	2916	broad.mit.edu	37	5	178413655	178413655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413655C>T	ENST00000517717.1	-	9	1638	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V534I			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6			55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CAGCAGGGGACGCCCTTCACC	0.682000																								0							SO:0001583	missense			ENST00000517717.1	1	1	hg19	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340760	0.60963	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89552	-2.53;-2.53	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.89649	0.6776	N	0.20685	0.6	0.49798	D	0.999821	D;B	0.67145	0.996;0.11	D;B	0.76071	0.987;0.022	D	0.90627	0.4564	9	0.51188	T	0.08	.	15.3541	0.74415	0.0:1.0:0.0:0.0	.	690;534	E7EX65;O15303	.;GRM6_HUMAN	I	690;534;534	ENSP00000231188:V534I;ENSP00000430767:V534I	ENSP00000231188:V534I	V	-	1	0	GRM6	178346261	0.998000	0.40836	0.987000	0.45799	0.878000	0.50629	3.974000	0.56852	2.281000	0.76405	0.462000	0.41574	GTC		TCGA-IB-7651-01A-11D-2154-08	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	1	0	1	90	287	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	89	282	0	54	2								-20.000000	1	0	121350	4	35	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM6	2916	broad.mit.edu	37	5	178413731	178413731	+	Silent	SNP	G	G	A	rs150342590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413731G>A	ENST00000517717.1	-	9	1562	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G508G			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	p.G508G(1)		55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CGTGGGGGTCGCCAGACCACT	0.697000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000517717.1	1	1	hg19	CCDS4442.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	1	0	1	34	262	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	34	253	0	35	2								-7.080919	1	0	121334	59	48	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	0.999615	0.990000	1	9.900000e-01	1
ZNF354C	30832	broad.mit.edu	37	5	178506423	178506423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178506423C>T	ENST00000315475.6	+	5	1296	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	p.C330C(1)		30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TCTATAAATGCGGCGAATGTG	0.433000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000315475.6	1	1	hg19	CCDS4443.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2	1	0	0	197	1064	1	283	0	5.800021e-01	0	12	1	283	2		0	0	0	0	0	2	1	1	191	1047	2	281	22								-20.000000	1	0	121412	7	46	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS2	9509	broad.mit.edu	37	5	178552119	178552119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178552119C>T	ENST00000251582.7	-	19	2914	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2			72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GCGCACGGAGCGCACCTGCAT	0.687000																								0							SO:0001583	missense			ENST00000251582.7	1	1	hg19	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797898	0.90538	.	.	ENSG00000087116	ENST00000251582	T	0.80824	-1.42	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000026	D	0.94578	0.8253	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96897	0.9657	10	0.87932	D	0	.	18.2057	0.89853	0.0:1.0:0.0:0.0	.	938	O95450	ATS2_HUMAN	H	938	ENSP00000251582:R938H	ENSP00000251582:R938H	R	-	2	0	ADAMTS2	178484725	1.000000	0.71417	0.941000	0.38009	0.476000	0.33039	7.551000	0.82182	2.538000	0.85594	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	1	0	0	65	1037	0	156	0	9.990036e-01	1	159	0	156	2		0	0	0	0	0	2	1	1	63	1019	0	155	2								-9.403376	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.800000	0.610000	1.000000	0.780000	0.827836	0.800000	0	6.900000e-01	1
ADAMTS2	9509	broad.mit.edu	37	5	178553085	178553085	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178553085C>T	ENST00000251582.7	-	18	2765	c.2664G>A	c.(2662-2664)aaG>aaA	p.K888K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2			72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GGTGTACCATCTTGTGGTCCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000251582.7	1	1	hg19	CCDS4444.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	1	0	1	131	730	0	117	1	1	2	312	0	117	2		0	0	0	0	0	2	1	1	131	719	0	116	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RUFY1	80230	broad.mit.edu	37	5	178987118	178987118	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178987118G>T	ENST00000319449.4	+	2	415	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C	RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C|RUFY1_ENST00000377001.2_Missense_Mutation_p.G135C|RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1			26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TCTGAGCCTGGGCCGCAGCCT	0.577000										HNSCC(44;0.11)														0							SO:0001583	missense			ENST00000319449.4	1	1	hg19	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.494453|5.494453	0.96339|0.96339	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000502984	T;T;T;T|.	0.12465|.	2.68;2.68;2.68;2.68|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.047726|.	0.85682|.	D|.	0.000000|.	T|T	0.81828|0.81828	0.4905|0.4905	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.82051|0.82051	-0.0649|-0.0649	10|5	0.87932|.	D|.	0|.	-17.8433|-17.8433	19.5387|19.5387	0.95266|0.95266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	135|.	Q96T51|.	RUFY1_HUMAN|.	C|C	135;135;27;27|92	ENSP00000325594:G135C;ENSP00000366200:G135C;ENSP00000390025:G27C;ENSP00000377087:G27C|.	ENSP00000325594:G135C|.	G|W	+|+	1|3	0|0	RUFY1|RUFY1	178919724|178919724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.699000|9.699000	0.98703|0.98703	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	1	0	1	37	110	0	26	1	1	50	76	0	26	2		0	0	0	0	0	2	1	1	35	108	0	26	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPH1	3187	broad.mit.edu	37	5	179044072	179044072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044072C>T	ENST00000356731.5	-	9	2632	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)			14					ACCGCTTGCTCCTGCTGTAGA	0.363000																								0							SO:0001583	missense			ENST00000356731.5	1	1	hg19	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.85|13.85	2.359804|2.359804	0.41801|0.41801	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000511300;ENST00000519033	.|T;T;T;T;T;T;T	.|0.25414	.|2.86;2.86;2.86;2.82;1.8;1.8;1.8	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.99999|0.99999	.|B;B	.|0.24675	.|0.091;0.109	.|B;B	.|0.29077	.|0.073;0.098	T|T	0.10291|0.10291	-1.0636|-1.0636	5|10	.|0.24483	.|T	.|0.36	-8.856|-8.856	11.3327|11.3327	0.49485|0.49485	0.14:0.7246:0.1354:0.0|0.14:0.7246:0.1354:0.0	.|.	.|366;366	.|E9PCY7;P31943	.|.;HNRH1_HUMAN	K|E	241|366;366;366;366;366;96;122	.|ENSP00000377082:G366E;ENSP00000397797:G366E;ENSP00000349168:G366E;ENSP00000327539:G366E;ENSP00000426275:G366E;ENSP00000444220:G96E;ENSP00000429481:G122E	.|ENSP00000327539:G366E	E|G	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178976678|178976678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.930000|3.930000	0.56522|0.56522	2.734000|2.734000	0.93682|0.93682	0.650000|0.650000	0.86243|0.86243	GAG|GGA		TCGA-IB-7651-01A-11D-2154-08	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	0	0	1	137	458	0	97	1	1	77	234	0	97	2		0	0	0	0	0	2	1	1	134	444	0	91	2								-4.811805	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNRNPH1	3187	broad.mit.edu	37	5	179044893	179044893	+	Silent	SNP	G	G	A	rs78795662	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044893G>A	ENST00000356731.5	-	7	2363	c.828C>T	c.(826-828)taC>taT	p.Y276Y	HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000393432.4_Silent_p.Y276Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000511300.2_Silent_p.Y6Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)			14					CACCATCCCCGTATCTGTGAT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000356731.5	1	0	hg19	CCDS4446.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	6.690	0.495996	0.12762	2.27E-4	0.003023	ENSG00000169045	ENST00000521173	.	.	.	5.59	-8.16	0.01061	.	.	.	.	.	T	0.66799	0.2826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72304	-0.4333	4	.	.	.	-7.2366	20.0627	0.97684	0.7951:0.0:0.2049:0.0	.	.	.	.	M	151	.	.	T	-	2	0	HNRNPH1	178977499	0.043000	0.20138	0.496000	0.27539	0.971000	0.66376	-0.373000	0.07494	-1.706000	0.01404	-0.237000	0.12165	ACG		TCGA-IB-7651-01A-11D-2154-08	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	0	0	1	101	271	0	78	1	1	112	380	0	78	2		0	0	0	0	0	2	1	1	97	266	0	76	2								-2.188588	0	1	121412	409	58	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAML1	9794	broad.mit.edu	37	5	179192579	179192579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179192579C>T	ENST00000292599.3	+	2	831	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)			36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CAACAAAAAGCGTCTGGCTGA	0.557000																								0							SO:0001583	missense			ENST00000292599.3	1	1	hg19	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366053	0.11352	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.40756	1.02	4.9	-0.496	0.12027	.	0.143880	0.49305	N	0.000144	T	0.09818	0.0241	N	0.00521	-1.4	0.30173	N	0.801095	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12344	-1.0551	10	0.35671	T	0.21	-0.4315	2.387	0.04368	0.1236:0.1414:0.1289:0.6062	.	227;190	Q59GH4;Q92585	.;MAML1_HUMAN	C	190;227	ENSP00000292599:R190C	ENSP00000292599:R190C	R	+	1	0	MAML1	179125185	0.997000	0.39634	0.936000	0.37596	0.499000	0.33736	1.457000	0.35212	-0.326000	0.08564	-0.505000	0.04504	CGT		TCGA-IB-7651-01A-11D-2154-08	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	1	0	1	68	151	0	42	1	9.999999e-01	16	45	0	42	2		0	0	0	0	0	2	1	1	66	148	0	42	2								-20.000000	1	1	121410	2	32	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAML1	9794	broad.mit.edu	37	5	179193073	179193073	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193073C>A	ENST00000292599.3	+	2	1325	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)			36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CTGGTCAGCCCCGGGCGGACA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000292599.3	1	1	hg19	CCDS34315.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	1	0	1	66	324	0	59	1	9.999971e-01	17	76	0	59	2		0	0	0	0	0	2	1	1	65	314	0	57	2								-3.252166	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAML1	9794	broad.mit.edu	37	5	179193167	179193167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193167G>A	ENST00000292599.3	+	2	1419	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)			36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GCCCAGTCAGGGCCCAGGAGG	0.642000																								0							SO:0001583	missense			ENST00000292599.3	1	1	hg19	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571803	0.45798	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.27402	1.67	4.88	4.01	0.46588	.	0.078647	0.53938	D	0.000052	T	0.41880	0.1178	M	0.63843	1.955	0.37548	D	0.918591	D;D	0.76494	0.997;0.999	D;D	0.67103	0.949;0.928	T	0.49925	-0.8887	10	0.09084	T	0.74	-19.2223	6.9821	0.24708	0.1549:0.0:0.7039:0.1412	.	423;386	Q59GH4;Q92585	.;MAML1_HUMAN	S	386;423	ENSP00000292599:G386S	ENSP00000292599:G386S	G	+	1	0	MAML1	179125773	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.309000	0.59135	1.047000	0.40274	0.305000	0.20034	GGC		TCGA-IB-7651-01A-11D-2154-08	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	0	0	1	58	464	1	87	1	8.917748e-01	12	46	1	87	4		0	0	0	0	0	2	1	9.999981e-01	58	458	1	86	20								-20.000000	1	0	121382	1	27	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
MAML1	9794	broad.mit.edu	37	5	179201461	179201461	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201461C>T	ENST00000292599.3	+	5	2897	c.2634C>T	c.(2632-2634)agC>agT	p.S878S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)			36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AAATGTCTAGCCCGCAATTCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000292599.3	1	1	hg19	CCDS34315.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	1	0	1	79	218	0	60	1	1	24	56	0	60	2		0	0	0	0	0	2	1	1	76	216	0	59	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAML1	9794	broad.mit.edu	37	5	179201852	179201852	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201852T>C	ENST00000292599.3	+	5	3288	c.3025T>C	c.(3025-3027)Ttg>Ctg	p.L1009L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)			36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GATGAGTGATTTGGACGACCT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000292599.3	1	1	hg19	CCDS34315.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	1	0	0	119	630	0	128	1	9.994858e-01	8	52	0	128	2		0	0	0	0	0	2	1	1	117	617	0	128	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGAT4B	11282	broad.mit.edu	37	5	179227252	179227252	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179227252T>C	ENST00000292591.7	-	7	1077	c.727A>G	c.(727-729)Acc>Gcc	p.T243A	MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.T258A|MGAT4B_ENST00000521305.1_5'Flank	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B			13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TTCTGTTTGGTCCTCCACCTG	0.627000													GBM(13;414 434 4098 22176 23230)											0							SO:0001583	missense			ENST00000292591.7	1	1	hg19	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657724|4.657724	0.88154|0.88154	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000518980;ENST00000520875;ENST00000518867|ENST00000337755;ENST00000292591;ENST00000523108	.|T;T;T	.|0.44482	.|0.92;0.92;0.92	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69922|0.69922	0.3165|0.3165	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D;B;P	.|0.76494	.|0.997;0.999;0.087;0.928	.|D;D;B;P	.|0.83275	.|0.994;0.996;0.117;0.554	T|T	0.75972|0.75972	-0.3129|-0.3129	5|10	.|0.49607	.|T	.|0.09	-26.3918|-26.3918	14.5904|14.5904	0.68359|0.68359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|243;258;98;243	.|Q9UQ53;A8MPR0;E5RFS3;Q9UQ53-2	.|MGT4B_HUMAN;.;.;.	G|A	68;52;41;54|258;243;98	.|ENSP00000338487:T258A;ENSP00000292591:T243A;ENSP00000427995:T98A	.|ENSP00000292591:T243A	D|T	-|-	2|1	0|0	MGAT4B|MGAT4B	179159858|179159858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.003000|8.003000	0.88520|0.88520	1.852000|1.852000	0.53769|0.53769	0.448000|0.448000	0.29417|0.29417	GAC|ACC		TCGA-IB-7651-01A-11D-2154-08	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	1	0	0	28	627	0	97	1	1	100	1358	0	97	2		0	0	0	0	0	2	1	1	26	620	0	97	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.600000	0.390000	1.000000	0.570000	0.664662	0.600000	0	4.800000e-01	1
SQSTM1	8878	broad.mit.edu	37	5	179260104	179260104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260104C>A	ENST00000389805.4	+	6	1005	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1		SQSTM1/ALK(2)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CCAGAGAGTTCCAGCACAGAG	0.602000																								0							SO:0001583	missense			ENST00000389805.4	1	1	hg19	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486551	0.04352	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.82619	-1.63;-1.63;-1.63;2.36;-1.63	5.0	2.23	0.28157	.	1.296320	0.04736	N	0.421909	D	0.89911	0.6852	M	0.66939	2.045	0.37016	D	0.895976	P;D	0.65815	0.901;0.995	B;D	0.75484	0.444;0.986	T	0.77752	-0.2470	10	0.34782	T	0.22	-14.1846	10.3902	0.44164	0.0:0.7833:0.0:0.2167	.	276;276	Q13501;E7EMC7	SQSTM_HUMAN;.	Y	192;276;132;192;276;192	ENSP00000366128:S192Y;ENSP00000374455:S276Y;ENSP00000385553:S192Y;ENSP00000424477:S276Y;ENSP00000353944:S192Y	ENSP00000353944:S192Y	S	+	2	0	SQSTM1	179192710	0.034000	0.19679	0.125000	0.21846	0.141000	0.21300	2.889000	0.48601	0.233000	0.21120	-0.424000	0.05967	TCC		TCGA-IB-7651-01A-11D-2154-08	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1	1	0	1	66	193	0	67	1	1	1638	2528	0	67	2		0	0	0	0	0	2	1	1	65	190	0	67	2								-4.925200	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SQSTM1	8878	broad.mit.edu	37	5	179260107	179260107	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260107G>T	ENST00000389805.4	+	6	1008	c.830G>T	c.(829-831)aGc>aTc	p.S277I	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1		SQSTM1/ALK(2)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GAGAGTTCCAGCACAGAGGAG	0.597000																								0							SO:0001583	missense			ENST00000389805.4	1	1	hg19	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524800	0.44969	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.83250	-1.7;-1.69;-1.7;2.29;-1.7	5.0	4.12	0.48240	.	0.387327	0.34088	N	0.004266	D	0.82318	0.5011	M	0.62723	1.935	0.35179	D	0.77226	B;P	0.50943	0.229;0.94	B;P	0.44860	0.087;0.462	D	0.87969	0.2735	10	0.66056	D	0.02	-13.9965	13.5979	0.62002	0.0:0.157:0.843:0.0	.	277;277	Q13501;E7EMC7	SQSTM_HUMAN;.	I	193;277;133;193;277;193	ENSP00000366128:S193I;ENSP00000374455:S277I;ENSP00000385553:S193I;ENSP00000424477:S277I;ENSP00000353944:S193I	ENSP00000353944:S193I	S	+	2	0	SQSTM1	179192713	0.042000	0.20092	0.195000	0.23364	0.168000	0.22595	1.631000	0.37092	1.225000	0.43566	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1	1	0	1	37	222	0	67	1	1	1212	2804	0	67	2		0	0	0	0	0	2	1	1	36	219	0	67	2								-20.000000	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
C5orf45	51149	broad.mit.edu	37	5	179264406	179264406	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179264406G>A	ENST00000292586.6	-	7	1107	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45			12					CATCATCATCGAAGTCTTCCC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000292586.6	1	1	hg19	CCDS34319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	1	0	0	319	934	0	229	1	1	236	294	0	229	2		0	0	0	0	0	2	1	1	312	914	0	224	2								-20.000000	1	1	121390	13	47	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C5orf45	51149	broad.mit.edu	37	5	179269014	179269014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179269014G>A	ENST00000292586.6	-	5	432	c.342C>T	c.(340-342)gaC>gaT	p.D114D	C5orf45_ENST00000518235.1_Silent_p.D114D|C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000518219.1_Silent_p.D114D|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Silent_p.D156D	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45			12					GTTCTTGGGAGTCCTTTTCTA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000292586.6	1	1	hg19	CCDS34319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	0	0	0	455	2085	0	414	1	9.999535e-01	10	55	0	414	2		0	0	0	0	0	2	1	1	451	2048	0	412	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C5orf45	51149	broad.mit.edu	37	5	179275064	179275064	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179275064A>C	ENST00000292586.6	-	3	219	c.129T>G	c.(127-129)gcT>gcG	p.A43A	RN7SKP150_ENST00000410516.1_RNA|Y_RNA_ENST00000516393.1_RNA|C5orf45_ENST00000518235.1_Silent_p.A43A|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000518219.1_Silent_p.A43A|C5orf45_ENST00000403396.2_Silent_p.A85A	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45			12					CTTCACCATAAGCCTGAGAAA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000292586.6	1	1	hg19	CCDS34319.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	1	0	1	105	281	0	135	1	9.984841e-01	6	23	0	135	2		0	0	0	0	0	2	1	1	103	277	0	135	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D9B	23061	broad.mit.edu	37	5	179291064	179291064	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179291064T>C	ENST00000356834.3	-	22	3174	c.3137A>G	c.(3136-3138)gAc>gGc	p.D1046G	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)			28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GTGGTACAGGTCCTGCTCCAT	0.562000																								0							SO:0001583	missense			ENST00000356834.3	1	1	hg19	CCDS43408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.61|17.61	3.433074|3.433074	0.62844|0.62844	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438|ENST00000524222	T;T;T;T|.	0.36878|.	2.96;3.06;1.23;1.49|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.189265|.	0.44483|.	D|.	0.000454|.	T|T	0.68979|0.68979	0.3060|0.3060	L|L	0.55481|0.55481	1.735|1.735	0.51482|0.51482	D|D	0.999928|0.999928	B;B;B;B;B|.	0.15930|.	0.001;0.002;0.001;0.002;0.015|.	B;B;B;B;B|.	0.18561|.	0.005;0.012;0.005;0.006;0.022|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.62326|.	D|.	0.03|.	-23.3488|-23.3488	15.3622|15.3622	0.74487|0.74487	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1028;1029;1046;245;120|.	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8|.	.;.;TBC9B_HUMAN;.;.|.	G|A	1046;1029;205;187;120|89	ENSP00000349291:D1046G;ENSP00000347375:D1029G;ENSP00000430293:D205G;ENSP00000401585:D187G|.	ENSP00000347375:D1029G|.	D|T	-|-	2|1	0|0	TBC1D9B|TBC1D9B	179223670|179223670	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.989000|0.989000	0.77384|0.77384	3.457000|3.457000	0.53007|0.53007	2.028000|2.028000	0.59812|0.59812	0.379000|0.379000	0.24179|0.24179	GAC|ACC		TCGA-IB-7651-01A-11D-2154-08	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	1	0	1	63	181	0	44	1	1	75	194	0	44	2		0	0	0	0	0	2	1	1	62	180	0	44	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D9B	23061	broad.mit.edu	37	5	179302094	179302094	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179302094C>A	ENST00000356834.3	-	12	2031	c.1994G>T	c.(1993-1995)aGc>aTc	p.S665I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)			28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CAGCGAGATGCTGGAGATCAC	0.597000																								0							SO:0001583	missense			ENST00000356834.3	1	1	hg19	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534226	0.64972	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.10099	2.91;2.91	5.29	4.41	0.53225	Rab-GAP/TBC domain (4);	0.059600	0.64402	D	0.000003	T	0.07548	0.0190	N	0.25201	0.72	0.80722	D	1	P;B;B	0.34699	0.464;0.409;0.263	B;B;B	0.36766	0.232;0.149;0.232	T	0.09378	-1.0677	10	0.05833	T	0.94	-31.843	14.2923	0.66286	0.0:0.7149:0.2851:0.0	.	665;665;665	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	I	665	ENSP00000349291:S665I;ENSP00000347375:S665I	ENSP00000347375:S665I	S	-	2	0	TBC1D9B	179234700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.038000	0.57318	2.469000	0.83416	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	0	0	1	121	380	0	72	1	1	98	225	0	72	2		0	0	0	0	0	2	1	1	118	373	0	71	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASGEF1C	255426	broad.mit.edu	37	5	179545622	179545622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179545622C>T	ENST00000393371.2	-	9	1366	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C			12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CTCTCGGCTGCTGTGGGCCGT	0.672000																								0							SO:0001583	missense			ENST00000393371.2	1	1	hg19	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678280	0.47886	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.30981	1.51;1.51;1.51	4.18	3.31	0.37934	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	L	0.51422	1.61	0.49798	D	0.999829	B	0.29766	0.256	B	0.35607	0.206	T	0.16630	-1.0396	10	0.56958	D	0.05	.	11.3716	0.49702	0.0:0.9071:0.0:0.0929	.	357	Q8N431	RGF1C_HUMAN	N	357;357;206	ENSP00000354963:S357N;ENSP00000377037:S357N;ENSP00000429114:S206N	ENSP00000354963:S357N	S	-	2	0	RASGEF1C	179478228	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.189000	0.65098	1.064000	0.40671	0.313000	0.20887	AGC		TCGA-IB-7651-01A-11D-2154-08	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	1	0	1	104	480	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	104	473	0	70	2								-2.885927	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK9	5601	broad.mit.edu	37	5	179666973	179666973	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179666973A>T	ENST00000452135.2	-	10	1309	c.1011T>A	c.(1009-1011)atT>atA	p.I337I	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Silent_p.I337I|MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000347470.4_Silent_p.I252I			P45984	MK09_HUMAN	mitogen-activated protein kinase 9			26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GGGCATCATAAATTTGAGGTG	0.338000																								0							SO:0001819	synonymous_variant			ENST00000452135.2	1	1	hg19	CCDS4453.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3	1	0	1	70	321	0	77	1	1	62	165	0	77	2		0	0	0	0	0	2	1	1	69	314	0	75	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAPK9	5601	broad.mit.edu	37	5	179676059	179676059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179676059C>T	ENST00000452135.2	-	6	828	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y			P45984	MK09_HUMAN	mitogen-activated protein kinase 9			26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GAAGTTAGTGCACGCTGTCCG	0.512000																								0							SO:0001583	missense			ENST00000452135.2	1	1	hg19	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703293	0.48412	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	N	0.16201	0.385	0.80722	D	1	B;B;B;B;B	0.33612	0.148;0.297;0.297;0.297;0.419	B;B;B;B;B	0.34824	0.015;0.19;0.015;0.015;0.041	T	0.56547	-0.7961	10	0.72032	D	0.01	-16.9108	19.6612	0.95875	0.0:1.0:0.0:0.0	.	177;177;177;177;177	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	177	ENSP00000394560:C177Y;ENSP00000377028:C177Y;ENSP00000389338:C177Y;ENSP00000345524:C177Y;ENSP00000321410:C177Y;ENSP00000397422:C177Y;ENSP00000443149:C177Y	ENSP00000345524:C177Y	C	-	2	0	MAPK9	179608665	1.000000	0.71417	0.995000	0.50966	0.294000	0.27393	7.711000	0.84669	2.639000	0.89480	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3	0	0	0	285	901	0	215	1	1	73	140	0	215	2		0	0	0	0	0	2	1	1	282	886	0	212	2								-20.000000	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFPT2	9945	broad.mit.edu	37	5	179743450	179743450	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179743450A>C	ENST00000253778.8	-	13	1333	c.1164T>G	c.(1162-1164)gtT>gtG	p.V388V	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2			34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	L-Glutamine(DB00130)	GTTCCTCCAAAACTTGCCGCG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000253778.8	1	1	hg19	CCDS43411.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	1	0	1	29	166	0	46	1	9.999980e-01	2	123	0	46	2		0	0	0	0	0	2	1	1	26	162	0	46	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
GFPT2	9945	broad.mit.edu	37	5	179758500	179758500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179758500A>C	ENST00000253778.8	-	5	563	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2			34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	L-Glutamine(DB00130)	CTTACCAGAAATTTCCTCAGA	0.438000																								0							SO:0001583	missense			ENST00000253778.8	1	1	hg19	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437962	0.83885	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76186	-1.0;-1.0	5.48	5.48	0.80851	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.051822	0.85682	D	0.000000	T	0.73860	0.3641	L	0.41027	1.25	0.58432	D	0.999991	P	0.42692	0.787	P	0.48921	0.595	T	0.72221	-0.4356	9	.	.	.	-18.5472	15.25	0.73536	1.0:0.0:0.0:0.0	.	132	O94808	GFPT2_HUMAN	V	132;34	ENSP00000253778:F132V;ENSP00000431125:F34V	.	F	-	1	0	GFPT2	179691106	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	9.094000	0.94168	2.084000	0.62774	0.459000	0.35465	TTT		TCGA-IB-7651-01A-11D-2154-08	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	1	0	1	41	151	0	46	0	1	0	110	0	46	2		0	0	0	0	0	2	1	1	41	150	0	46	2								-20.000000	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLT4	2324	broad.mit.edu	37	5	180038401	180038401	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180038401C>T	ENST00000261937.6	-	27	3694	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T|FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4			71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTGTAGGGCCATGGTGGAC	0.667000													Colon(97;1075 1466 27033 27547 35871)											0							SO:0001583	missense			ENST00000261937.6	1	1	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	8.093	0.774853	0.16051	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77229	-1.08;-1.08;-1.07	4.48	4.48	0.54585	.	.	.	.	.	T	0.54886	0.1886	N	0.08118	0	0.38878	D	0.956844	B;B	0.33549	0.286;0.417	B;B	0.29598	0.103;0.104	T	0.57087	-0.7871	9	0.22109	T	0.4	.	10.5112	0.44864	0.0:0.9099:0.0:0.0901	.	1206;1206	E9PD35;P35916	.;VGFR3_HUMAN	T	1206	ENSP00000261937:A1206T;ENSP00000377016:A1206T;ENSP00000426057:A1206T	ENSP00000261937:A1206T	A	-	1	0	FLT4	179971007	0.998000	0.40836	0.929000	0.37066	0.018000	0.09664	4.128000	0.57951	2.492000	0.84095	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	0	65	707	0	118	0	5.134904e-01	0	20	0	118	2		0	0	0	0	0	2	1	1	64	702	0	117	2								-16.367790	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.870000	1.000000	1.000000	0.990068	0.990000	1	9.900000e-01	1
FLT4	2324	broad.mit.edu	37	5	180046743	180046743	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180046743C>T	ENST00000261937.6	-	18	2647	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Missense_Mutation_p.G857R|FLT4_ENST00000393347.3_Missense_Mutation_p.G857R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4			71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACCTTCCCGAAGGCGCCG	0.672000													Colon(97;1075 1466 27033 27547 35871)											0		GRCh37	CM001158	FLT4	M		SO:0001583	missense			ENST00000261937.6	1	1	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504333	0.85176	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.95103	-3.61;-3.61;-3.61	4.28	4.28	0.50868	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98175	0.9397	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99612	1.0981	9	0.87932	D	0	.	17.2749	0.87112	0.0:1.0:0.0:0.0	.	667;857;857	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	R	857;857;857;667	ENSP00000261937:G857R;ENSP00000377016:G857R;ENSP00000426057:G857R	ENSP00000261937:G857R	G	-	1	0	FLT4	179979349	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	7.645000	0.83430	2.379000	0.81126	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1	136	461	0	105	0	4.137099e-01	0	6	0	105	2		0	0	0	0	0	2	1	1	135	452	0	105	2								-3.564086	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLT4	2324	broad.mit.edu	37	5	180055887	180055887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180055887G>A	ENST00000261937.6	-	8	1176	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F366F|FLT4_ENST00000393347.3_Silent_p.F366F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4			71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTACCACTGGAACTCGGGCG	0.657000													Colon(97;1075 1466 27033 27547 35871)											0							SO:0001819	synonymous_variant			ENST00000261937.6	1	1	hg19	CCDS4457.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1	55	244	0	51	0	7.910085e-01	0	15	0	51	2		0	0	0	0	0	2	1	1	51	232	0	49	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLT4	2324	broad.mit.edu	37	5	180056812	180056812	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180056812G>T	ENST00000261937.6	-	6	778	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M|FLT4_ENST00000393347.3_Missense_Mutation_p.L234M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4			71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCAACAGCTGGATGTCA	0.592000													Colon(97;1075 1466 27033 27547 35871)											0							SO:0001583	missense			ENST00000261937.6	1	1	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069511	0.55539	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.78924	-1.22;-1.22;-1.22	4.91	4.03	0.46877	Immunoglobulin-like (1);	.	.	.	.	D	0.84579	0.5503	M	0.66939	2.045	0.51482	D	0.999927	D;D;D;D	0.89917	1.0;1.0;0.975;0.975	D;D;D;D	0.97110	0.999;1.0;0.951;0.934	D	0.83885	0.0281	9	0.49607	T	0.09	.	9.3967	0.38406	0.0754:0.0:0.7799:0.1447	.	234;234;234;234	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	M	234;234;234;44	ENSP00000261937:L234M;ENSP00000377016:L234M;ENSP00000426057:L234M	ENSP00000261937:L234M	L	-	1	2	FLT4	179989418	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.092000	0.64511	1.190000	0.43042	-0.310000	0.09108	CTG		TCGA-IB-7651-01A-11D-2154-08	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1	34	99	0	23	0	9.587242e-01	0	18	0	23	2		0	0	0	0	0	2	1	1	32	98	0	23	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLT4	2324	broad.mit.edu	37	5	180057602	180057602	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180057602G>A	ENST00000261937.6	-	3	431	c.353C>T	c.(352-354)gCa>gTa	p.A118V	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V|FLT4_ENST00000393347.3_Missense_Mutation_p.A118V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4			71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCGATGCGTGCCTTGATGTA	0.642000													Colon(97;1075 1466 27033 27547 35871)											0							SO:0001583	missense			ENST00000261937.6	1	1	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591855	0.46214	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77098	-1.07;-1.07;-1.07	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76695	0.4023	L	0.42245	1.32	0.46631	D	0.999134	P;P;P;B;B	0.51537	0.946;0.934;0.492;0.005;0.002	P;P;B;B;B	0.51701	0.636;0.677;0.184;0.021;0.014	T	0.74481	-0.3651	9	0.33141	T	0.24	.	11.9624	0.53015	0.0801:0.0:0.9199:0.0	.	118;118;118;118;118	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	V	118	ENSP00000261937:A118V;ENSP00000377016:A118V;ENSP00000426057:A118V	ENSP00000261937:A118V	A	-	2	0	FLT4	179990208	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.973000	0.56845	2.465000	0.83290	0.456000	0.33151	GCA		TCGA-IB-7651-01A-11D-2154-08	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	0	0	1	98	238	1	57	0	8.534537e-01	0	15	1	57	3		0	0	0	0	0	2	1	1	97	236	1	57	19								-20.000000	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MGAT1	4245	broad.mit.edu	37	5	180218780	180218780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180218780C>T	ENST00000446023.2	-	3	1942	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase			13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGAGCCTTGGCGAAAGCCTTG	0.617000																								0							SO:0001583	missense			ENST00000446023.2	1	1	hg19	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355865	0.82243	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.51055	0.657	D	0.85120	0.0968	10	0.18276	T	0.48	-21.9415	15.8674	0.79074	0.0:1.0:0.0:0.0	.	398	P26572	MGAT1_HUMAN	T	398;398;398;398;255;398	ENSP00000332073:A398T;ENSP00000311888:A398T;ENSP00000404718:A398T;ENSP00000377010:A398T;ENSP00000402838:A398T	ENSP00000311888:A398T	A	-	1	0	MGAT1	180151386	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	6.840000	0.75369	2.692000	0.91855	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	1	0	1	92	248	0	66	1	1	162	861	0	66	2		0	0	0	0	0	2	1	1	92	243	0	66	2								-6.446701	1	1	121412	2	32	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFS6	4726	broad.mit.edu	37	5	1802444	1802444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1802444G>A	ENST00000274137.5	+	2	160	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MRPL36_ENST00000505059.2_5'Flank|NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N|MRPL36_ENST00000382647.7_5'Flank|MRPL36_ENST00000508987.1_5'Flank|MRPL36_ENST00000505818.1_5'Flank	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)			7					GGTTTATGATGATAAAGACTA	0.338000																								0							SO:0001583	missense			ENST00000274137.5	1	1	hg19	CCDS3866.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080091	0.36662	.	.	ENSG00000145494	ENST00000274137;ENST00000469176	T	0.77098	-1.07	4.32	1.48	0.22813	.	0.417168	0.26855	N	0.022151	T	0.71409	0.3336	M	0.67953	2.075	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.62817	-0.6774	10	0.59425	D	0.04	-2.9912	7.4969	0.27494	0.2902:0.0:0.7098:0.0	.	48	O75380	NDUS6_HUMAN	N	48	ENSP00000274137:D48N	ENSP00000274137:D48N	D	+	1	0	NDUFS6	1855444	0.992000	0.36948	0.003000	0.11579	0.961000	0.63080	4.399000	0.59703	-0.008000	0.14320	0.558000	0.71614	GAT		TCGA-IB-7651-01A-11D-2154-08	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	1	0	1	50	227	0	41	1	1	121	329	0	41	2		0	0	0	0	0	2	1	1	50	223	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTNL8	79908	broad.mit.edu	37	5	180338566	180338566	+	Missense_Mutation	SNP	C	C	T	rs143894862	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180338566C>T	ENST00000340184.4	+	3	831	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	BTNL8_ENST00000508408.1_Missense_Mutation_p.R209W|BTNL8_ENST00000231229.4_Missense_Mutation_p.R209W|BTNL8_ENST00000533815.2_Missense_Mutation_p.R25W|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84W|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93W	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8			28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CTGTTCCATGCGGCATGCTCA	0.552000																								0							SO:0001583	missense			ENST00000340184.4	1	0	hg19	CCDS43413.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	8.734	0.917376	0.17982	0.011802	0.0	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.62639	3.27;3.27;3.27;3.27;3.27;0.01;0.18	3.59	2.69	0.31865	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37100	0.0991	N	0.26042	0.785	0.09310	N	1	D;B;P;D;B	0.56968	0.978;0.24;0.947;0.97;0.002	B;B;B;B;B	0.40534	0.12;0.011;0.332;0.332;0.0	T	0.15867	-1.0422	9	0.45353	T	0.12	.	8.4213	0.32703	0.2343:0.7657:0.0:0.0	.	84;93;209;209;209	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	W	209;209;84;209;93;2;25	ENSP00000231229:R209W;ENSP00000342197:R209W;ENSP00000383543:R84W;ENSP00000424585:R209W;ENSP00000425207:R93W;ENSP00000427441:R2W;ENSP00000435098:R25W	ENSP00000231229:R209W	R	+	1	2	BTNL8	180271172	0.005000	0.15991	0.024000	0.17045	0.033000	0.12548	1.008000	0.29872	0.611000	0.30052	0.205000	0.17691	CGG		TCGA-IB-7651-01A-11D-2154-08	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	1	0	1	104	309	0	84	1	9.997981e-01	23	17	0	84	2		0	0	0	0	0	2	1	1	103	304	0	83	2								-2.667046	1	1	121412	146	53	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTNL8	79908	broad.mit.edu	37	5	180377192	180377192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180377192G>A	ENST00000340184.4	+	8	1357	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8			28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGACTGAATGGAGAACATTTG	0.512000																								0							SO:0001583	missense			ENST00000340184.4	1	1	hg19	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.296925	0.01364	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	1.89	-3.78	0.04333	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33440	0.0863	N	0.13098	0.295	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.0;0.0;0.006	T	0.06127	-1.0844	9	0.11485	T	0.65	.	2.5575	0.04764	0.3517:0.1419:0.3936:0.1128	.	259;268;384	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	E	384;259;268;177;200	ENSP00000342197:G384E;ENSP00000383543:G259E;ENSP00000425207:G268E;ENSP00000427441:G177E;ENSP00000435098:G200E	ENSP00000342197:G384E	G	+	2	0	BTNL8	180309798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.449000	0.06812	-3.895000	0.00094	-2.987000	0.00079	GGA		TCGA-IB-7651-01A-11D-2154-08	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	1	0	1	105	283	0	91	1	9.999997e-01	34	28	0	91	2		0	0	0	0	0	2	1	1	105	275	0	90	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTNL3	10917	broad.mit.edu	37	5	180424301	180424301	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424301G>T	ENST00000342868.6	+	3	670	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3			25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		GGTTCCCCCAGCCCACAGCCA	0.512000																								0							SO:0001583	missense			ENST00000342868.6	1	1	hg19	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160223	0.38119	.	.	ENSG00000168903	ENST00000342868	T	0.41065	1.01	3.9	0.271	0.15640	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39809	0.1092	M	0.68952	2.095	0.09310	N	1	P	0.44578	0.838	B	0.41691	0.364	T	0.28299	-1.0048	9	0.72032	D	0.01	.	7.3458	0.26662	0.4953:0.0:0.5047:0.0	.	162	Q6UXE8	BTNL3_HUMAN	H	162	ENSP00000341787:Q162H	ENSP00000341787:Q162H	Q	+	3	2	BTNL3	180356907	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.115000	0.10741	-0.086000	0.12550	0.531000	0.56144	CAG		TCGA-IB-7651-01A-11D-2154-08	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	0	0	0	15	506	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	9.998501e-01	15	494	0	83	2								-13.368260	1	0	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.420000	0.220000	1.000000	0.370000	0.523550	0.420000	0	3.100000e-01	1
BTNL3	10917	broad.mit.edu	37	5	180432639	180432639	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180432639A>G	ENST00000342868.6	+	8	1352	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3			25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		TTTGTATTTCACATTCAATCC	0.498000																								0							SO:0001583	missense			ENST00000342868.6	1	1	hg19	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	6.949	0.544902	0.13312	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.59906	0.23	3.0	-5.49	0.02584	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.31765	0.0807	N	0.02120	-0.675	0.09310	N	1	P;P	0.52463	0.953;0.798	P;B	0.54759	0.76;0.433	T	0.18023	-1.0350	9	0.07175	T	0.84	.	7.0513	0.25075	0.2235:0.0:0.6358:0.1407	.	356;390	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	A	390;356	ENSP00000341787:T390A	ENSP00000341787:T390A	T	+	1	0	BTNL3	180365245	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.079000	0.14782	-1.249000	0.02500	0.164000	0.16699	ACA		TCGA-IB-7651-01A-11D-2154-08	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	1	0	1	107	271	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	104	266	0	50	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTNL9	153579	broad.mit.edu	37	5	180475061	180475061	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180475061G>A	ENST00000327705.9	+	3	475	c.244G>A	c.(244-246)Gtg>Atg	p.V82M	BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000515271.1_Missense_Mutation_p.V13M|BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9			19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GACCTTCAATGTGGTACACCT	0.617000																								0							SO:0001583	missense			ENST00000327705.9	1	1	hg19	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745701	0.30955	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.66460	-0.21;-0.21;-0.21;4.17	4.76	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32068	N	0.006623	T	0.77405	0.4125	M	0.84219	2.685	0.09310	N	1	D;P	0.71674	0.998;0.953	D;P	0.71870	0.975;0.873	T	0.66360	-0.5943	10	0.72032	D	0.01	.	3.9571	0.09395	0.1952:0.0:0.6167:0.1881	.	13;82	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	M	82;82;82;82;13	ENSP00000366037:V82M;ENSP00000330200:V82M;ENSP00000366038:V82M;ENSP00000427345:V13M	ENSP00000330200:V82M	V	+	1	0	BTNL9	180407667	0.038000	0.19896	0.579000	0.28588	0.001000	0.01503	0.707000	0.25704	1.314000	0.45095	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	1	0	1	47	144	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	47	144	0	32	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTNL9	153579	broad.mit.edu	37	5	180480219	180480219	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180480219C>A	ENST00000327705.9	+	5	987	c.756C>A	c.(754-756)gcC>gcA	p.A252A	BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000515271.1_Silent_p.A183A|BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000511589.1_3'UTR	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9			19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TACCCGGAGCCTCTGCGTGGA	0.721000																								0							SO:0001819	synonymous_variant			ENST00000327705.9	1	1	hg19	CCDS4460.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	0	0	0	20	77	0	17	0	0	0	1	0	17	2		0	0	0	0	0	2	1	9.999975e-01	20	75	0	17	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
BTNL9	153579	broad.mit.edu	37	5	180486818	180486818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180486818C>A	ENST00000327705.9	+	11	1795	c.1564C>A	c.(1564-1566)Cta>Ata	p.L522I	BTNL9_ENST00000376842.3_Missense_Mutation_p.L523I	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9			19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TGACACCTGGCTACAGCCCTA	0.726000																								0							SO:0001583	missense			ENST00000327705.9	0	1	hg19	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	9.609	1.130772	0.21041	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.39997	1.07;1.05	4.32	-8.64	0.00874	.	1.887700	0.04364	N	0.357958	T	0.19005	0.0456	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.14392	-1.0474	10	0.41790	T	0.15	.	1.0467	0.01571	0.1756:0.2951:0.2863:0.2431	.	522	Q6UXG8	BTNL9_HUMAN	I	522;523	ENSP00000330200:L522I;ENSP00000366038:L523I	ENSP00000330200:L522I	L	+	1	2	BTNL9	180419424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.888000	0.00173	-3.227000	0.00210	-1.651000	0.00758	CTA		TCGA-IB-7651-01A-11D-2154-08	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	1	0	0	9	94	0	12	0	2.443938e-01	1	9	0	12	2		0	0	0	0	0	2	1	9.948997e-01	9	94	0	12	2								-15.242120	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.620000	1.000000	1.000000	0.956892	0.990000	1	9.000000e-01	1
TRIM7	81786	broad.mit.edu	37	5	180622208	180622208	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180622208G>A	ENST00000274773.7	-	7	1555	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	TRIM7_ENST00000422067.2_Silent_p.F290F|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Silent_p.F290F|TRIM7_ENST00000393315.1_Silent_p.F290F|CTC-338M12.5_ENST00000514487.1_RNA|TRIM7_ENST00000393319.3_Silent_p.F316F	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7			17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGCAAACAGAGAAAAGCGGGA	0.632000													Esophageal Squamous(128;2258 2308 35507 48647)											0							SO:0001819	synonymous_variant			ENST00000274773.7	1	1	hg19	CCDS4462.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	1	0	1	44	147	0	33	1	9.074426e-01	12	4	0	33	2		0	0	0	0	0	2	1	1	44	145	0	33	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM41	90933	broad.mit.edu	37	5	180651776	180651776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180651776C>T	ENST00000315073.5	+	1	1487	c.777C>T	c.(775-777)agC>agT	p.S259S	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.S259S|MIR4638_ENST00000581158.1_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41			26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AACAGCACAGCGTGGTGCCAT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000315073.5	1	1	hg19	CCDS4466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	1	0	1	97	320	0	88	1	1	65	59	0	88	2		0	0	0	0	0	2	1	1	94	306	0	85	2								-4.650289	1	1	121412	2	32	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM41	90933	broad.mit.edu	37	5	180661696	180661696	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180661696C>T	ENST00000315073.5	+	6	2524	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41			26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CACACCTTCTCGGCTGCCTTC	0.602000																								0							SO:0001583	missense			ENST00000315073.5	1	1	hg19	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206989	0.22205	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.70282	-0.47	4.86	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.328211	0.22250	N	0.062574	T	0.76814	0.4040	L	0.55990	1.75	0.20074	N	0.999938	D	0.69078	0.997	P	0.60682	0.878	T	0.68164	-0.5481	10	0.72032	D	0.01	.	10.9864	0.47525	0.0:0.8113:0.1887:0.0	.	605	Q8WV44	TRI41_HUMAN	L	605;290	ENSP00000320869:S605L	ENSP00000320869:S605L	S	+	2	0	TRIM41	180594302	0.201000	0.23410	0.441000	0.26858	0.001000	0.01503	0.018000	0.13422	1.250000	0.43966	-0.519000	0.04390	TCG		TCGA-IB-7651-01A-11D-2154-08	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	0	0	1	128	684	0	123	1	9.999956e-01	10	83	0	123	2		0	0	0	0	0	2	1	1	127	670	0	123	2								-2.921322	1	1	121412	2	38	1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM52	84851	broad.mit.edu	37	5	180687720	180687720	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180687720G>A	ENST00000327767.4	-	1	399	c.95C>T	c.(94-96)tCc>tTc	p.S32F	TRIM52-AS1_ENST00000507434.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000433265.3_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52			8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ACAGCTGATGGACACGGGGTC	0.562000																								0							SO:0001583	missense			ENST00000327767.4	1	1	hg19	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.014596	0.54468	.	.	ENSG00000183718	ENST00000327767	D	0.95238	-3.65	3.72	3.72	0.42706	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	D	0.96670	0.8913	M	0.77486	2.375	0.47123	D	0.999328	D	0.89917	1.0	D	0.75484	0.986	D	0.96451	0.9334	8	.	.	.	.	13.7957	0.63168	0.0:0.0:1.0:0.0	.	32	Q96A61	TRI52_HUMAN	F	32	ENSP00000332152:S32F	.	S	-	2	0	TRIM52	180620326	0.093000	0.21703	0.112000	0.21494	0.279000	0.26890	1.476000	0.35420	2.041000	0.60428	0.511000	0.50034	TCC		TCGA-IB-7651-01A-11D-2154-08	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	1	0	1	48	221	0	51	1	8.740410e-01	3	16	0	51	2		0	0	0	0	0	2	1	1	48	217	0	51	2								-20.000000	1	1	0	0		1	1	3	4	2.206214	1	0.170000	2.060000	2.571377e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHG4B	153478	broad.mit.edu	37	5	182382	182382	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:182382G>A	ENST00000283426.6	+	18	3810	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B			11			all cancers(22;0.0253)|Lung(60;0.113)		GGGCACCCAGGCTGCAGTGTG	0.622000																								0							SO:0001583	missense			ENST00000283426.6	1	1	hg19	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997387	0.35226	.	.	ENSG00000153404	ENST00000283426	T	0.30448	1.53	3.55	1.64	0.23874	.	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.26396	N	0.976497	P	0.43477	0.808	B	0.30179	0.112	T	0.06625	-1.0816	9	0.72032	D	0.01	.	9.5746	0.39450	0.0:0.6027:0.3972:0.0	.	1254	Q96PX9	PKH4B_HUMAN	T	1254	ENSP00000283426:A1254T	ENSP00000283426:A1254T	A	+	1	0	PLEKHG4B	235382	1.000000	0.71417	0.112000	0.21494	0.010000	0.07245	2.491000	0.45303	0.020000	0.15106	-0.499000	0.04595	GCT		TCGA-IB-7651-01A-11D-2154-08	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	1	0	1	33	127	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	32	126	0	27	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CDH18	1016	broad.mit.edu	37	5	19483440	19483440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19483440C>T	ENST00000507958.1	-	14	2842	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000502796.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2			138	Lung NSC(1;0.00734)|all_lung(1;0.0197)				AGAAGAATAGCGATTAAGGCT	0.478000																								0							SO:0001583	missense			ENST00000507958.1	1	1	hg19	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321308	0.95682	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.64618	-0.11;-0.11;-0.11	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.74389	2.26	0.58432	D	0.999999	D	0.65815	0.995	P	0.52159	0.691	T	0.74315	-0.3705	9	.	.	.	.	18.0513	0.89349	0.0:1.0:0.0:0.0	.	618	Q13634	CAD18_HUMAN	T	618	ENSP00000371710:A618T;ENSP00000425093:A618T;ENSP00000274170:A618T	.	A	-	1	0	CDH18	19519197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.615000	0.88500	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	1	0	1	30	170	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	1	29	170	0	46	2								-3.239645	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999851	0.990000	1	9.900000e-01	1
LRRC14B	389257	broad.mit.edu	37	5	194943	194943	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:194943A>G	ENST00000328278.3	+	2	1048	c.1020A>G	c.(1018-1020)ggA>ggG	p.G340G	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B			10					ACCTCAGTGGACACAACCTGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000328278.3	1	1	hg19	CCDS47184.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	1	0	1	13	67	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.996296e-01	13	65	0	19	2								-19.999660	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.970000	1.000000	1.000000	0.997022	0.990000	1	9.900000e-01	1
LRRC14B	389257	broad.mit.edu	37	5	195268	195268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:195268C>T	ENST00000328278.3	+	2	1373	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B			10					GTTCAACCAGCAGAAATACGA	0.617000																								0							SO:0001587	stop_gained			ENST00000328278.3	0	1	hg19	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567915	0.96540	.	.	ENSG00000185028	ENST00000328278	.	.	.	5.41	4.52	0.55395	.	0.268654	0.43110	D	0.000604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.4499	0.55671	0.0:0.6762:0.3238:0.0	.	.	.	.	X	449	.	ENSP00000327675:Q449X	Q	+	1	0	LRRC14B	248268	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.016000	0.40971	1.259000	0.44117	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	1	0	1	178	679	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1	177	670	0	145	2								-20.000000	1	1	121248	1	28	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH18	1016	broad.mit.edu	37	5	19544089	19544089	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19544089C>T	ENST00000507958.1	-	11	2269	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	CDH18_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000502796.1_Missense_Mutation_p.D427N			Q13634	CAD18_HUMAN	cadherin 18, type 2			138	Lung NSC(1;0.00734)|all_lung(1;0.0197)				AATCTGTCGTCTTCAACATTG	0.348000																								0							SO:0001583	missense			ENST00000507958.1	1	1	hg19	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687736	0.29962	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;2.09;-0.05	5.44	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.455464	0.24516	N	0.037858	T	0.46288	0.1385	N	0.13043	0.29	0.32552	N	0.53228	B;B	0.24317	0.101;0.076	B;B	0.32022	0.139;0.088	T	0.52472	-0.8571	9	.	.	.	.	12.7735	0.57434	0.0:0.9203:0.0:0.0797	.	427;427	B4DHG6;Q13634	.;CAD18_HUMAN	N	427;427;427;427;427;427;373;427	ENSP00000371710:D427N;ENSP00000425093:D427N;ENSP00000274170:D427N;ENSP00000424931:D427N;ENSP00000422138:D427N;ENSP00000427383:D373N;ENSP00000425854:D427N	.	D	-	1	0	CDH18	19579846	1.000000	0.71417	0.929000	0.37066	0.596000	0.36781	4.798000	0.62510	1.312000	0.45043	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	1	0	0	47	169	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	46	166	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH18	1016	broad.mit.edu	37	5	19612635	19612635	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19612635T>G	ENST00000507958.1	-	8	1709	c.719A>C	c.(718-720)gAc>gCc	p.D240A	CDH18_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000502796.1_Missense_Mutation_p.D240A			Q13634	CAD18_HUMAN	cadherin 18, type 2			138	Lung NSC(1;0.00734)|all_lung(1;0.0197)				CCCAGCCATGTCTTTGGCTTG	0.418000																								0							SO:0001583	missense			ENST00000507958.1	1	1	hg19	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746706	0.89663	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.95	5.95	0.96441	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.96861	3.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91748	0.5410	9	.	.	.	.	15.2309	0.73386	0.0:0.0:0.0:1.0	.	240;240	B4DHG6;Q13634	.;CAD18_HUMAN	A	240;240;240;240;240;240;186;240	ENSP00000371710:D240A;ENSP00000425093:D240A;ENSP00000274170:D240A;ENSP00000424931:D240A;ENSP00000422138:D240A;ENSP00000427383:D186A;ENSP00000425854:D240A	.	D	-	2	0	CDH18	19648392	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.890000	0.87313	2.272000	0.75746	0.460000	0.39030	GAC		TCGA-IB-7651-01A-11D-2154-08	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	1	0	1	54	235	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	53	225	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH12	1010	broad.mit.edu	37	5	21755864	21755864	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:21755864C>A	ENST00000382254.1	-	14	2807	c.1721G>T	c.(1720-1722)aGc>aTc	p.S574I	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S574I|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)			120					AGGGTAGCTGCTGTCTTCTAT	0.453000										HNSCC(59;0.17)														0							SO:0001583	missense			ENST00000382254.1	1	1	hg19	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984975	0.74474	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.54279	0.58;0.58;0.58	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	0.085006	0.85682	D	0.000000	T	0.75258	0.3825	M	0.91818	3.245	0.47037	D	0.999292	P;P	0.48998	0.828;0.918	P;P	0.54431	0.752;0.601	T	0.81491	-0.0909	10	0.87932	D	0	.	19.3164	0.94215	0.0:1.0:0.0:0.0	.	534;574	B7Z2U6;P55289	.;CAD12_HUMAN	I	574;574;534	ENSP00000423577:S574I;ENSP00000371689:S574I;ENSP00000428786:S534I	ENSP00000371689:S574I	S	-	2	0	CDH12	21791621	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.668000	0.54554	2.572000	0.86782	0.460000	0.39030	AGC		TCGA-IB-7651-01A-11D-2154-08	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	0	0	0	12	372	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	9.990163e-01	12	363	0	70	2								-11.837890	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.360000	0.200000	0.590000	0.360000	0.384721	0.360000	0	2.700000e-01	4.800000e-01
CDH12	1010	broad.mit.edu	37	5	22078698	22078698	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:22078698T>G	ENST00000382254.1	-	5	1174	c.88A>C	c.(88-90)Act>Cct	p.T30P	CDH12_ENST00000504376.2_Missense_Mutation_p.T30P|CDH12_ENST00000522262.1_Missense_Mutation_p.T30P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)			120					GTGGCTAAAGTCTGCTGTGGC	0.453000										HNSCC(59;0.17)														0							SO:0001583	missense			ENST00000382254.1	1	1	hg19	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114372	0.37339	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.57436	0.46;0.46;0.4	5.57	5.57	0.84162	.	0.200215	0.52532	D	0.000078	T	0.29620	0.0739	N	0.08118	0	0.39251	D	0.964037	P;P	0.38922	0.651;0.651	B;B	0.31614	0.133;0.133	T	0.27191	-1.0081	10	0.25751	T	0.34	.	14.3088	0.66403	0.0:0.0:0.0:1.0	.	30;30	B7Z2U6;P55289	.;CAD12_HUMAN	P	30	ENSP00000423577:T30P;ENSP00000371689:T30P;ENSP00000428786:T30P	ENSP00000371689:T30P	T	-	1	0	CDH12	22114455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.068000	0.64364	2.131000	0.65755	0.454000	0.30748	ACT		TCGA-IB-7651-01A-11D-2154-08	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	1	0	1	169	856	0	187		0	0	0	0	187	2		0	0	0	0	0	2	1	1	167	838	0	184	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM9	56979	broad.mit.edu	37	5	23509692	23509692	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23509692G>A	ENST00000296682.3	+	3	365	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9			172					ATAATGCACTGATTACTATAG	0.433000										HNSCC(3;0.000094)														0							SO:0001819	synonymous_variant			ENST00000296682.3	1	1	hg19	CCDS43307.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	1	92	363	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1	90	353	0	136	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM9	56979	broad.mit.edu	37	5	23522454	23522454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522454C>T	ENST00000296682.3	+	7	732	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9			172					GTATAGCCTGCGAGAAAGAAA	0.458000										HNSCC(3;0.000094)														0							SO:0001587	stop_gained			ENST00000296682.3	0	1	hg19	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532190	0.64972	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.63	-6.01	0.02199	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7103	13.4028	0.60893	0.8164:0.1836:0.0:0.0	.	.	.	.	X	184	.	ENSP00000296682:R184X	R	+	1	2	PRDM9	23558211	0.469000	0.25846	0.005000	0.12908	0.006000	0.05464	-0.309000	0.08145	-0.881000	0.03992	-1.580000	0.00857	CGA		TCGA-IB-7651-01A-11D-2154-08	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	0	125	673	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	1	124	662	0	146	2								-20.000000	1	1	120896	40	49	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM9	56979	broad.mit.edu	37	5	23522797	23522797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522797G>A	ENST00000296682.3	+	8	867	c.685G>A	c.(685-687)Gca>Aca	p.A229T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9			172					AAAGGACAGTGCAGTGGACAA	0.552000										HNSCC(3;0.000094)														0							SO:0001583	missense			ENST00000296682.3	1	1	hg19	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198050	0.38806	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.50001	0.76	4.28	-1.93	0.07594	.	0.247922	0.21003	N	0.081821	T	0.28830	0.0715	L	0.42686	1.345	0.09310	N	1	B	0.22800	0.075	B	0.14023	0.01	T	0.10245	-1.0638	10	0.23302	T	0.38	-0.7371	3.8134	0.08806	0.1023:0.4634:0.2774:0.1569	.	229	Q9NQV7	PRDM9_HUMAN	T	229;23	ENSP00000296682:A229T	ENSP00000253473:A23T	A	+	1	0	PRDM9	23558554	0.000000	0.05858	0.002000	0.10522	0.906000	0.53458	0.056000	0.14256	-0.259000	0.09432	0.597000	0.82753	GCA		TCGA-IB-7651-01A-11D-2154-08	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	1	36	196	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	35	192	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
PRDM9	56979	broad.mit.edu	37	5	23526654	23526654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23526654G>T	ENST00000296682.3	+	11	1639	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9			172					CAAATGGGGAGCTGTAGAGTG	0.453000										HNSCC(3;0.000094)														0							SO:0001583	missense			ENST00000296682.3	0	1	hg19	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188363	0.21954	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09538	2.97	2.71	0.764	0.18465	.	0.346301	0.21154	N	0.079277	T	0.08088	0.0202	L	0.46157	1.445	0.09310	N	1	P	0.50617	0.937	B	0.40329	0.326	T	0.25641	-1.0126	10	0.49607	T	0.09	-1.791	3.9423	0.09333	0.1509:0.2486:0.6005:0.0	.	486	Q9NQV7	PRDM9_HUMAN	I	486;280	ENSP00000296682:S486I	ENSP00000253473:S280I	S	+	2	0	PRDM9	23562411	0.717000	0.27966	0.001000	0.08648	0.143000	0.21401	0.000000	0.12993	0.160000	0.19432	0.505000	0.49811	AGC		TCGA-IB-7651-01A-11D-2154-08	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	0	0	0	6	224	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.646089e-01	6	222	0	56	2								-7.774005	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.310000	0.130000	0.600000	0.290000	0.341414	0.310000	0	2.100000e-01	4.600000e-01
PRDM9	56979	broad.mit.edu	37	5	23527381	23527381	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23527381C>T	ENST00000296682.3	+	11	2366	c.2184C>T	c.(2182-2184)ggC>ggT	p.G728G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9			172					GTGGGCGGGGCTTTAGCAATA	0.597000										HNSCC(3;0.000094)														0							SO:0001819	synonymous_variant			ENST00000296682.3	1	0	hg19	CCDS43307.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	0	71	377	0	99		0	0	0	0	99	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM9	56979	broad.mit.edu	37	5	23527721	23527721	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23527721C>T	ENST00000296682.3	+	11	2706	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9			172					GCGGGGCTTTCGCAATAAGTC	0.587000										HNSCC(3;0.000094)														0							SO:0001583	missense			ENST00000296682.3	1	0	hg19	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555271	0.45487	2.29E-4	1.16E-4	ENSG00000164256	ENST00000296682	T	0.08282	3.11	2.67	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.25286	0.73	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.42982	-0.9419	9	0.59425	D	0.04	0.1175	0.5976	0.00739	0.4516:0.2128:0.1287:0.207	.	842	Q9NQV7	PRDM9_HUMAN	C	842	ENSP00000296682:R842C	ENSP00000296682:R842C	R	+	1	0	PRDM9	23563478	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.822000	0.04448	0.037000	0.15575	-0.566000	0.04163	CGC		TCGA-IB-7651-01A-11D-2154-08	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	1	0	1	81	667	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1	68	535	0	147	2								-0.735595	0	1	121204	17	41	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999213	0.990000	1	9.900000e-01	1
SDHA	6389	broad.mit.edu	37	5	235284	235284	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:235284G>A	ENST00000264932.6	+	9	1205	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	SDHA_ENST00000504309.1_Missense_Mutation_p.V364I|SDHA_ENST00000510361.1_Missense_Mutation_p.V316I	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)			40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)	Succinic acid(DB00139)	GAAAGATCACGTCTACCTGCA	0.567000									Familial Paragangliomas															0							SO:0001583	missense	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	ENST00000264932.6	1	1	hg19	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	10.43	1.347429	0.24426	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.71698	-0.59;-0.59;-0.59	5.12	5.12	0.69794	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.64402	U	0.000002	T	0.53449	0.1797	N	0.17764	0.52	0.80722	D	1	B;B;B;B;B	0.26602	0.154;0.05;0.002;0.001;0.001	B;B;B;B;B	0.27500	0.08;0.04;0.013;0.009;0.009	T	0.51888	-0.8648	10	0.02654	T	1	.	16.4201	0.83755	0.0:0.0:1.0:0.0	.	316;364;364;364;370	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	I	364;219;364;316	ENSP00000264932:V364I;ENSP00000426514:V364I;ENSP00000427703:V316I	ENSP00000264932:V364I	V	+	1	0	SDHA	288284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.024000	0.93689	2.541000	0.85698	0.557000	0.71058	GTC		TCGA-IB-7651-01A-11D-2154-08	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	1	0	1	30	273	0	66	1	1	64	421	0	66	2		0	0	0	0	0	2	1	1	30	263	0	66	2								-20.000000	1	1	121412	3	32	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.790000	1.000000	1.000000	0.978846	0.990000	1	9.500000e-01	1
CDH10	1008	broad.mit.edu	37	5	24487856	24487856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24487856G>T	ENST00000264463.4	-	12	2790	c.2283C>A	c.(2281-2283)aaC>aaA	p.N761K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)			185					GGTAATCGTAGTTTTGGTCTC	0.438000										HNSCC(23;0.051)														0							SO:0001583	missense			ENST00000264463.4	1	1	hg19	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535813	0.45176	.	.	ENSG00000040731	ENST00000264463	T	0.76448	-1.02	5.81	2.02	0.26589	Cadherin, cytoplasmic domain (1);	0.131088	0.64402	D	0.000001	T	0.70360	0.3215	L	0.50993	1.605	0.40598	D	0.981552	B	0.15141	0.012	B	0.18263	0.021	T	0.66830	-0.5824	10	0.87932	D	0	.	10.2185	0.43184	0.2733:0.0:0.7267:0.0	.	761	Q9Y6N8	CAD10_HUMAN	K	761	ENSP00000264463:N761K	ENSP00000264463:N761K	N	-	3	2	CDH10	24523613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	0.375000	0.24679	0.655000	0.94253	AAC		TCGA-IB-7651-01A-11D-2154-08	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1	154	693	0	161	0	0	0	1	0	161	2		0	0	0	0	0	2	1	1	152	673	0	160	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH10	1008	broad.mit.edu	37	5	24488103	24488103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24488103G>A	ENST00000264463.4	-	12	2543	c.2036C>T	c.(2035-2037)gCa>gTa	p.A679V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)			185					CTCAATGGCTGCAGGATTCCT	0.483000										HNSCC(23;0.051)														0							SO:0001583	missense			ENST00000264463.4	1	1	hg19	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713235	0.48517	.	.	ENSG00000040731	ENST00000264463	T	0.76186	-1.0	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.100384	0.64402	D	0.000002	T	0.57917	0.2086	N	0.04260	-0.245	0.46564	D	0.999106	P	0.34815	0.47	B	0.39027	0.288	T	0.64364	-0.6425	10	0.51188	T	0.08	.	13.9707	0.64237	0.0:0.1515:0.8485:0.0	.	679	Q9Y6N8	CAD10_HUMAN	V	679	ENSP00000264463:A679V	ENSP00000264463:A679V	A	-	2	0	CDH10	24523860	1.000000	0.71417	0.855000	0.33649	0.953000	0.61014	5.855000	0.69510	2.580000	0.87095	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1	56	356	0	80	0	0	0	1	0	80	2		0	0	0	0	0	2	1	1	54	347	0	79	2								-19.999920	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
CDH10	1008	broad.mit.edu	37	5	24509737	24509737	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24509737T>G	ENST00000264463.4	-	7	1701	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)			185					TTGTGCCCACTTCAATATCTT	0.403000										HNSCC(23;0.051)														0							SO:0001583	missense			ENST00000264463.4	1	1	hg19	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283613	0.40394	.	.	ENSG00000040731	ENST00000264463	T	0.02552	4.25	5.26	2.73	0.32206	Cadherin (3);Cadherin-like (1);	0.228496	0.43579	N	0.000547	T	0.02494	0.0076	L	0.28556	0.865	0.30452	N	0.775141	B	0.13145	0.007	B	0.19148	0.024	T	0.23332	-1.0191	10	0.45353	T	0.12	.	6.4566	0.21934	0.0:0.0833:0.3006:0.6162	.	398	Q9Y6N8	CAD10_HUMAN	D	398	ENSP00000264463:E398D	ENSP00000264463:E398D	E	-	3	2	CDH10	24545494	0.132000	0.22450	1.000000	0.80357	0.994000	0.84299	0.212000	0.17497	0.356000	0.24157	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1	61	265	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	57	251	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH10	1008	broad.mit.edu	37	5	24535872	24535872	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24535872C>T	ENST00000264463.4	-	4	1093	c.586G>A	c.(586-588)Gcc>Acc	p.A196T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	p.A196P(1)		185					ATGACTCTGGCGCTGTTCCCA	0.453000										HNSCC(23;0.051)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264463.4	1	1	hg19	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687570	0.96784	.	.	ENSG00000040731	ENST00000264463	T	0.01767	4.65	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.00005	-1.2546	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	196	Q9Y6N8	CAD10_HUMAN	T	196	ENSP00000264463:A196T	ENSP00000264463:A196T	A	-	1	0	CDH10	24571629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	1	0	1	40	233	0	62	0	2.268775e-02	0	2	0	62	2		0	0	0	0	0	2	1	1	40	231	0	61	2								-3.081470	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
SDHA	6389	broad.mit.edu	37	5	251561	251561	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:251561C>T	ENST00000264932.6	+	13	1887	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.A543V	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)			40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)	Succinic acid(DB00139)	TCACGGGGCGCGCATGCCAGG	0.627000									Familial Paragangliomas															0							SO:0001583	missense	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	ENST00000264932.6	1	1	hg19	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	12.84	2.058988	0.36373	0.0	1.16E-4	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	D;D;D	0.85258	-1.96;-1.96;-1.96	3.79	3.79	0.43588	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.145674	0.45606	U	0.000356	D	0.93301	0.7865	M	0.92691	3.335	0.80722	D	1	D;P;D;P	0.89917	1.0;0.912;0.998;0.825	D;B;P;B	0.71656	0.974;0.321;0.845;0.207	D	0.94746	0.7923	10	0.87932	D	0	.	13.5022	0.61462	0.0:1.0:0.0:0.0	.	543;591;185;591	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	V	591;446;543;37	ENSP00000264932:A591V;ENSP00000427703:A543V;ENSP00000421911:A37V	ENSP00000264932:A591V	A	+	2	0	SDHA	304561	1.000000	0.71417	0.018000	0.16275	0.025000	0.11179	5.353000	0.66034	1.853000	0.53794	0.305000	0.20034	GCG		TCGA-IB-7651-01A-11D-2154-08	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	1	0	1	47	192	0	39	1	1	227	452	0	39	2		0	0	0	0	0	2	1	1	47	187	0	39	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH9	1007	broad.mit.edu	37	5	26902639	26902639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26902639C>T	ENST00000231021.4	-	7	1371	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)			137					TCCAATGATACTGCCCTCCTT	0.338000													Melanoma(8;187 585 15745 40864 52829)											0							SO:0001583	missense			ENST00000231021.4	1	1	hg19	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017195	0.54576	.	.	ENSG00000113100	ENST00000231021	T	0.53206	0.63	5.62	5.62	0.85841	Cadherin (3);Cadherin-like (1);	0.192760	0.53938	D	0.000042	T	0.47192	0.1432	M	0.69248	2.105	0.40218	D	0.977705	B	0.14438	0.01	B	0.26614	0.071	T	0.40346	-0.9568	9	.	.	.	.	11.6748	0.51424	0.0:0.9184:0.0:0.0816	.	400	Q9ULB4	CADH9_HUMAN	N	400	ENSP00000231021:S400N	.	S	-	2	0	CDH9	26938396	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	0.592000	0.23984	2.648000	0.89879	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	1	0	0	32	393	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	31	384	0	64	2								-3.142702	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.860000	0.610000	1.000000	1.000000	0.864297	0.860000	1	7.300000e-01	1
CDH9	1007	broad.mit.edu	37	5	26903822	26903822	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26903822G>A	ENST00000231021.4	-	6	1095	c.923C>T	c.(922-924)gCt>gTt	p.A308V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)			137					ATCTCCTTCAGCAATGCTATA	0.423000													Melanoma(8;187 585 15745 40864 52829)											0							SO:0001583	missense			ENST00000231021.4	1	1	hg19	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.084935	0.08583	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.74	4.85	0.62838	Cadherin (4);Cadherin-like (1);	0.770981	0.12924	N	0.427965	T	0.17023	0.0409	N	0.00742	-1.23	0.20638	N	0.999873	B	0.02656	0.0	B	0.04013	0.001	T	0.09618	-1.0666	9	.	.	.	.	10.8091	0.46535	0.1489:0.0:0.8511:0.0	.	308	Q9ULB4	CADH9_HUMAN	V	308	ENSP00000231021:A308V	.	A	-	2	0	CDH9	26939579	0.079000	0.21365	0.994000	0.49952	0.741000	0.42261	2.924000	0.48876	2.881000	0.98747	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	1	0	1	190	736	0	233		0	0	0	0	233	2		0	0	0	0	0	2	1	1	185	714	0	230	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH9	1007	broad.mit.edu	37	5	26915978	26915978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26915978C>T	ENST00000231021.4	-	3	455	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)			137					CCAGCCCCATCTCCTGTTAGT	0.353000													Melanoma(8;187 585 15745 40864 52829)											0							SO:0001583	missense			ENST00000231021.4	1	1	hg19	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914844	0.92178	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.60920	0.15;0.67	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.101514	0.64402	D	0.000003	T	0.72946	0.3524	M	0.63169	1.94	0.58432	D	0.999994	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.891	T	0.73392	-0.3997	9	.	.	.	.	16.4099	0.83704	0.0:1.0:0.0:0.0	.	95;95	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	95	ENSP00000231021:D95N;ENSP00000426239:D95N	.	D	-	1	0	CDH9	26951735	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.361000	0.79497	2.275000	0.75901	0.585000	0.79938	GAT		TCGA-IB-7651-01A-11D-2154-08	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	1	0	1	97	549	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	93	539	0	100	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRX2	153572	broad.mit.edu	37	5	2747723	2747723	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2747723G>A	ENST00000382611.6	-	4	1619	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	IRX2_ENST00000302057.5_Silent_p.S457S|IRX2_ENST00000502957.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2			26					TGCAGCCCTCGCTGGCATCTG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000382611.6	1	1	hg19	CCDS3868.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	1	65	180	0	37	0	5.048334e-01	0	6	0	37	2		0	0	0	0	0	2	1	1	65	177	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRX2	153572	broad.mit.edu	37	5	2748989	2748989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2748989G>A	ENST00000382611.6	-	3	1081	c.833C>T	c.(832-834)gCg>gTg	p.A278V	IRX2_ENST00000302057.5_Missense_Mutation_p.A278V|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2			26					CTTGGGCGGCGCCAGGCCCCG	0.746000																								0							SO:0001583	missense			ENST00000382611.6	1	1	hg19	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	4.767	0.142597	0.09083	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.65178	-0.14;-0.14;-0.07	4.51	-1.28	0.09318	.	0.598049	0.18305	N	0.145282	T	0.34600	0.0903	N	0.12182	0.205	0.27280	N	0.95812	B	0.02656	0.0	B	0.04013	0.001	T	0.14671	-1.0464	10	0.21014	T	0.42	-4.7565	6.5074	0.22202	0.2142:0.2378:0.548:0.0	.	278	Q9BZI1	IRX2_HUMAN	V	278;278;185	ENSP00000372056:A278V;ENSP00000307006:A278V;ENSP00000426151:A185V	ENSP00000307006:A278V	A	-	2	0	IRX2	2801989	0.484000	0.25964	0.614000	0.29051	0.660000	0.38997	0.406000	0.21032	-0.164000	0.10927	-0.244000	0.11960	GCG		TCGA-IB-7651-01A-11D-2154-08	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	0	24	109	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999998e-01	23	109	0	17	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999929	0.990000	1	9.900000e-01	1
IRX2	153572	broad.mit.edu	37	5	2749012	2749012	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749012G>A	ENST00000382611.6	-	3	1058	c.810C>T	c.(808-810)gaC>gaT	p.D270D	IRX2_ENST00000302057.5_Silent_p.D270D|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2			26					CGCCCTCCTCGTCGTCGTCCT	0.731000																								0							SO:0001819	synonymous_variant			ENST00000382611.6	1	1	hg19	CCDS3868.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	0	25	119	0	19	0	1.503616e-01	0	4	0	19	2		0	0	0	0	0	2	1	9.999999e-01	25	119	0	18	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999920	0.990000	1	9.900000e-01	1
IRX2	153572	broad.mit.edu	37	5	2749024	2749024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749024G>A	ENST00000382611.6	-	3	1046	c.798C>T	c.(796-798)gaC>gaT	p.D266D	IRX2_ENST00000302057.5_Silent_p.D266D|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2			26					CGTCGTCCTCGTCGTCCTCCA	0.726000																								0							SO:0001819	synonymous_variant			ENST00000382611.6	1	1	hg19	CCDS3868.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	0	23	132	0	23	0	2.921116e-01	0	7	0	23	2		0	0	0	0	0	2	1	9.999996e-01	22	132	0	22	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999364	0.990000	1	9.900000e-01	1
IRX2	153572	broad.mit.edu	37	5	2749548	2749548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749548G>A	ENST00000382611.6	-	2	851	c.603C>T	c.(601-603)gaC>gaT	p.D201D	C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Silent_p.D201D|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2			26					CGGGACTCTCGTCCTTGCTTC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000382611.6	1	1	hg19	CCDS3868.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	1	56	284	0	62	0	5.129706e-01	0	10	0	62	2		0	0	0	0	0	2	1	1	54	277	0	62	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRX2	153572	broad.mit.edu	37	5	2749615	2749615	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749615G>A	ENST00000382611.6	-	2	784	c.536C>T	c.(535-537)aCc>aTc	p.T179I	C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.T179I|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	p.T179>I(1)		26					CGGGGCCCAGGTCATCTTGTT	0.602000																								1	Complex - compound substitution(1)						SO:0001583	missense			ENST00000382611.6	1	1	hg19	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026629	0.93518	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83591	-1.74;-1.74;-1.74	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91229	0.7236	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92552	0.6051	10	0.87932	D	0	-29.3434	17.9697	0.89110	0.0:0.0:1.0:0.0	.	179	Q9BZI1	IRX2_HUMAN	I	179;179;86	ENSP00000372056:T179I;ENSP00000307006:T179I;ENSP00000426151:T86I	ENSP00000307006:T179I	T	-	2	0	IRX2	2802615	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	9.367000	0.97148	2.239000	0.73571	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	1	103	441	0	109	0	8.058037e-01	0	15	0	109	2		0	0	0	0	0	2	1	1	103	430	0	106	2								-20.000000	1	0	121412	2	35	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRX2	153572	broad.mit.edu	37	5	2749890	2749890	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749890G>A	ENST00000382611.6	-	2	509	c.261C>T	c.(259-261)taC>taT	p.Y87Y	C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|IRX2_ENST00000302057.5_Silent_p.Y87Y|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2			26					TGTGCGCGTCGTAGGGTGCGC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000382611.6	1	1	hg19	CCDS3868.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	1	0	1	44	281	0	54		0	0	0	0	54	2		0	0	0	0	1	2	1	1	42	278	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
C5orf38	153571	broad.mit.edu	37	5	2752520	2752520	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2752520G>A	ENST00000334000.3	+	1	259	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000515640.1_Missense_Mutation_p.A48T	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38			4					GGTCCACTCCGCCCAGCATGG	0.711000																								0							SO:0001583	missense			ENST00000334000.3	1	1	hg19	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	0.163	-1.078884	0.01903	.	.	ENSG00000186493	ENST00000457752;ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.24	-2.6	0.06190	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	P	0.42871	0.792	B	0.38225	0.268	T	0.15578	-1.0432	8	0.87932	D	0	.	6.613	0.22761	0.0:0.1469:0.3988:0.4543	.	48	Q86SI9	CEI_HUMAN	T	48	.	ENSP00000334267:A48T	A	+	1	0	C5orf38	2805520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-1.262000	0.02459	-2.048000	0.00412	GCC		TCGA-IB-7651-01A-11D-2154-08	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	1	0	0	20	66	0	14	0	3.437050e-01	0	5	0	14	2		0	0	0	0	0	2	1	9.999974e-01	20	63	0	14	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
CDH6	1004	broad.mit.edu	37	5	31297423	31297423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31297423C>T	ENST00000265071.2	+	4	816	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)			77					GTCACTGCGACGGATGCAGAT	0.393000																								0							SO:0001583	missense			ENST00000265071.2	1	1	hg19	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167083	0.38217	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	Cadherin (5);Cadherin-like (1);	0.146577	0.64402	D	0.000009	T	0.68165	0.2971	M	0.72576	2.205	0.44918	D	0.997935	D;D	0.69078	0.983;0.997	P;P	0.60541	0.799;0.876	T	0.70883	-0.4751	10	0.72032	D	0.01	.	14.5454	0.68027	0.1463:0.8537:0.0:0.0	.	184;184	P55285;P55285-2	CADH6_HUMAN;.	M	129;184	ENSP00000424843:T129M;ENSP00000265071:T184M	ENSP00000265071:T184M	T	+	2	0	CDH6	31333180	0.896000	0.30565	0.495000	0.27527	0.070000	0.16714	1.892000	0.39748	2.749000	0.94314	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	1	0	1	73	379	0	80	0	8.112763e-01	0	18	0	80	2		0	0	0	0	0	2	1	1	73	373	0	79	2								-20.000000	1	1	121410	1	28	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH6	1004	broad.mit.edu	37	5	31316320	31316320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31316320C>T	ENST00000265071.2	+	9	1661	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)			77					GACAGATAATCCAAAGCAAAG	0.368000																								0							SO:0001583	missense			ENST00000265071.2	1	1	hg19	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468432	0.43839	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56776	0.44;0.44	5.02	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.102637	0.64402	D	0.000002	T	0.51312	0.1667	L	0.55213	1.73	0.58432	D	0.999999	B;B	0.33857	0.08;0.429	B;B	0.38378	0.074;0.272	T	0.49978	-0.8881	10	0.30078	T	0.28	.	15.1114	0.72359	0.1428:0.8572:0.0:0.0	.	466;466	P55285;P55285-2	CADH6_HUMAN;.	S	411;466	ENSP00000424843:P411S;ENSP00000265071:P466S	ENSP00000265071:P466S	P	+	1	0	CDH6	31352077	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.278000	0.78587	1.444000	0.47605	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	1	0	1	35	236	0	49	0	6.678323e-01	0	17	0	49	2		0	0	0	0	0	2	1	1	35	236	0	49	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999409	0.990000	1	9.900000e-01	1
PDZD2	23037	broad.mit.edu	37	5	32087337	32087337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32087337G>A	ENST00000438447.1	+	20	4171	c.3783G>A	c.(3781-3783)cgG>cgA	p.R1261R	PDZD2_ENST00000282493.3_Silent_p.R1261R			O15018	PDZD2_HUMAN	PDZ domain containing 2			148					AAGTCAGTCGGCCAGAGAATC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000438447.1	1	1	hg19	CCDS34137.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1	1	0	1	100	553	0	133	0	1.731168e-01	0	5	0	133	2		0	0	0	0	0	2	1	1	100	539	0	130	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDZD2	23037	broad.mit.edu	37	5	32088716	32088716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32088716C>T	ENST00000438447.1	+	20	5550	c.5162C>T	c.(5161-5163)cCg>cTg	p.P1721L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L			O15018	PDZD2_HUMAN	PDZ domain containing 2			148					TTTCACAGTCCGCCCATCATT	0.498000																								0							SO:0001583	missense			ENST00000438447.1	1	1	hg19	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340517	0.24339	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07021	3.23;3.23	5.37	2.65	0.31530	.	0.898851	0.09563	N	0.785301	T	0.08447	0.0210	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37731	-0.9693	10	0.35671	T	0.21	.	7.4691	0.27338	0.0:0.7293:0.0:0.2707	.	1721	O15018	PDZD2_HUMAN	L	1721;1522;1721	ENSP00000402033:P1721L;ENSP00000282493:P1721L	ENSP00000282493:P1721L	P	+	2	0	PDZD2	32124473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.433000	0.21477	0.264000	0.21851	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1	1	0	1	90	335	0	104	0	6.594903e-01	0	10	0	104	2		0	0	0	0	0	2	1	1	88	332	0	103	2								-3.508967	1	1	121412	7	40	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLPH3	64083	broad.mit.edu	37	5	32126345	32126345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126345C>T	ENST00000265070.6	-	4	1185	c.870G>A	c.(868-870)tgG>tgA	p.W290*	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)			11					CCACCACCGCCCACAGAACCT	0.498000																								0							SO:0001587	stop_gained			ENST00000265070.6	0	1	hg19	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884130	0.72410	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	290;273	.	ENSP00000265070:W290X	W	-	3	0	GOLPH3	32162102	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	1	0	0	118	570	0	143	1	1	134	436	0	143	2		0	0	0	0	0	2	1	1	117	560	0	140	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLPH3	64083	broad.mit.edu	37	5	32126532	32126532	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126532T>G	ENST00000265070.6	-	4	998	c.683A>C	c.(682-684)gAc>gCc	p.D228A	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)			11					GCGGTGAGGGTCATTCACCCA	0.502000																								0							SO:0001583	missense			ENST00000265070.6	1	1	hg19	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834356	0.50951	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	.	0.086647	0.85682	D	0.000000	T	0.79028	0.4377	M	0.90082	3.085	0.80722	D	1	P	0.49783	0.928	P	0.53266	0.722	T	0.82127	-0.0611	9	0.49607	T	0.09	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	228	Q9H4A6	GOLP3_HUMAN	A	228;211	.	ENSP00000265070:D228A	D	-	2	0	GOLPH3	32162289	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.649000	0.83500	2.367000	0.80283	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	1	0	1	134	493	0	101	1	1	118	387	0	101	2		0	0	0	0	0	2	1	1	133	484	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR12	54545	broad.mit.edu	37	5	32230272	32230272	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32230272T>G	ENST00000382142.3	-	16	2026	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T	MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12			34					GTCAGTGGACTTGCTATGCCA	0.448000																								0							SO:0001583	missense			ENST00000382142.3	1	1	hg19	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210419	0.58343	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.42131	0.98;0.98;0.98	5.78	2.13	0.27403	Myotubularin phosphatase domain (1);	0.470463	0.23450	N	0.048057	T	0.42245	0.1194	L	0.59436	1.845	0.21325	N	0.999729	P;B;P	0.37158	0.585;0.449;0.505	B;B;B	0.42827	0.399;0.212;0.317	T	0.28870	-1.0030	10	0.49607	T	0.09	.	9.2291	0.37425	0.0:0.2043:0.0:0.7957	.	509;565;619	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	T	565;619;509	ENSP00000280285:K565T;ENSP00000371577:K619T;ENSP00000264934:K509T	ENSP00000264934:K509T	K	-	2	0	MTMR12	32266029	1.000000	0.71417	0.969000	0.41365	0.800000	0.45204	2.127000	0.42035	0.139000	0.18822	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	0	0	1	104	526	0	111	1	9.999988e-01	24	74	0	111	2		0	0	0	0	0	2	1	1	101	517	0	111	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFR	51663	broad.mit.edu	37	5	32387723	32387723	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32387723G>A	ENST00000265069.8	-	14	2533	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein			32					TCTGAGCACAGCAAAACAAGG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000265069.8	1	1	hg19	CCDS34139.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1	0	0	0	75	361	1	79	1	1	63	213	1	79	13		0	0	0	0	0	2	1	1	74	357	1	79	18								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPR3	4883	broad.mit.edu	37	5	32712326	32712326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32712326G>A	ENST00000265074.8	+	1	787	c.444G>A	c.(442-444)tcG>tcA	p.S148S	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.S148S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3			24				Nesiritide(DB04899)	GGCTTGCATCGCACTGGGACC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000265074.8	1	1	hg19	CCDS56357.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	1	0	1	101	524	0	92	0	9.901173e-01	0	39	0	92	2		0	0	0	0	0	2	1	1	99	513	0	87	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPR3	4883	broad.mit.edu	37	5	32739076	32739076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32739076G>T	ENST00000265074.8	+	3	1342	c.999G>T	c.(997-999)gaG>gaT	p.E333D	NPR3_ENST00000415685.2_Missense_Mutation_p.E117D|NPR3_ENST00000434067.2_Missense_Mutation_p.E117D|NPR3_ENST00000415167.2_Missense_Mutation_p.E333D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3			24				Nesiritide(DB04899)	CTGAGTTTGAGAAGTTTTCCA	0.453000																								0							SO:0001583	missense			ENST00000265074.8	0	1	hg19	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170557	0.38315	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	6.04	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.046579	0.85682	D	0.000000	D	0.88265	0.6390	M	0.61703	1.905	0.52501	D	0.999953	P;B;D;D	0.63880	0.632;0.446;0.993;0.993	B;B;D;D	0.72338	0.18;0.137;0.977;0.977	D	0.85435	0.1151	10	0.13853	T	0.58	-19.2395	15.0721	0.72046	0.0673:0.0:0.9327:0.0	.	117;117;333;333	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	D	110;117;117;333;333	ENSP00000425325:E110D;ENSP00000388408:E117D;ENSP00000402490:E117D;ENSP00000265074:E333D;ENSP00000398028:E333D	ENSP00000265074:E333D	E	+	3	2	NPR3	32774833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.257000	0.51500	1.571000	0.49722	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	0	0	0	11	436	0	103	0	6.279571e-01	0	83	0	103	2		0	0	0	0	0	2	1	9.980860e-01	11	423	0	103	2								-3.477789	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.290000	0.150000	0.480000	0.290000	0.305906	0.290000	0	2.100000e-01	3.900000e-01
TARS	6897	broad.mit.edu	37	5	33461024	33461024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33461024G>A	ENST00000265112.3	+	12	1579	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	TARS_ENST00000414361.2_Missense_Mutation_p.R302Q|TARS_ENST00000502553.1_Missense_Mutation_p.R423Q|TARS_ENST00000541634.1_Missense_Mutation_p.R319Q|TARS_ENST00000455217.2_Missense_Mutation_p.R456Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase			29				L-Threonine(DB00156)	TTTGATCATCGGCCAAGGTCC	0.463000																								0							SO:0001583	missense			ENST00000265112.3	1	1	hg19	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372127	0.95923	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	L	0.59967	1.855	0.80722	D	1	D;D;D;D	0.89917	0.983;1.0;0.999;1.0	B;D;D;D	0.75484	0.427;0.986;0.959;0.986	T	0.80476	-0.1366	10	0.87932	D	0	-7.802	20.8794	0.99867	0.0:0.0:1.0:0.0	.	302;456;319;423	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	Q	423;423;319;456;302	ENSP00000424387:R423Q;ENSP00000265112:R423Q;ENSP00000438469:R319Q;ENSP00000387710:R456Q;ENSP00000394291:R302Q	ENSP00000265112:R423Q	R	+	2	0	TARS	33496781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.820000	0.99359	2.941000	0.99782	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	1	0	1	69	274	0	74	1	1	102	276	0	74	2		0	0	0	0	0	2	1	1	68	269	0	73	2								-3.114699	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS12	81792	broad.mit.edu	37	5	33527365	33527365	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527365A>G	ENST00000504830.1	-	24	5048	c.4713T>C	c.(4711-4713)tgT>tgC	p.C1571C	ADAMTS12_ENST00000352040.3_Silent_p.C1486C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					GTGTCTGGGGACACGAGAAGC	0.502000										HNSCC(64;0.19)														0							SO:0001819	synonymous_variant			ENST00000504830.1	1	1	hg19	CCDS34140.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	0	86	843	0	172	0	9.997956e-01	0	119	0	172	2		0	0	0	0	0	2	1	1	86	824	0	171	2								-19.996600	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.860000	1.000000	1.000000	0.984914	0.990000	1	9.600000e-01	1
ADAMTS12	81792	broad.mit.edu	37	5	33614342	33614342	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33614342C>T	ENST00000504830.1	-	16	2863		c.e16+1		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					CTGTTTCTCACCTGTCCCGCA	0.507000										HNSCC(64;0.19)														0							SO:0001630	splice_region_variant			ENST00000504830.1	1	1	hg19	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414237	0.83449	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5024	0.95100	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33650099	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.790000	0.85794	2.699000	0.92147	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1	18	108	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.999849e-01	17	105	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.997689	0.990000	1	9.900000e-01	1
ADAMTS12	81792	broad.mit.edu	37	5	33615950	33615950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33615950C>T	ENST00000504830.1	-	15	2706	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					CACACAGACTCATTGGTGGGA	0.483000										HNSCC(64;0.19)														0							SO:0001583	missense			ENST00000504830.1	1	1	hg19	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472919	0.84640	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.56941	0.43;0.43	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.300984	0.35151	N	0.003404	T	0.74366	0.3707	M	0.89840	3.065	0.80722	D	1	D;D	0.63880	0.986;0.993	P;D	0.64877	0.73;0.93	T	0.74166	-0.3753	10	0.09338	T	0.73	.	18.6763	0.91529	0.0:1.0:0.0:0.0	.	706;791	P58397-3;P58397	.;ATS12_HUMAN	K	791;706	ENSP00000422554:E791K;ENSP00000344847:E706K	ENSP00000344847:E706K	E	-	1	0	ADAMTS12	33651707	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.034000	0.64152	2.481000	0.83766	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1	92	488	0	107	0	9.995749e-01	0	62	0	107	2		0	0	0	0	0	2	1	1	91	482	0	107	2								-3.321374	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS12	81792	broad.mit.edu	37	5	33641986	33641986	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33641986T>C	ENST00000504830.1	-	11	1982	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	ADAMTS12_ENST00000352040.3_Silent_p.S549S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					GGGACCAGGGTGACCAGCGGC	0.572000										HNSCC(64;0.19)														0							SO:0001819	synonymous_variant			ENST00000504830.1	1	1	hg19	CCDS34140.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1	49	268	0	71	0	9.999445e-01	0	81	0	71	2		0	0	0	0	0	2	1	1	47	263	0	70	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ADAMTS12	81792	broad.mit.edu	37	5	33649745	33649745	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33649745C>T	ENST00000504830.1	-	8	1583	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	ADAMTS12_ENST00000352040.3_Silent_p.P416P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					ACATGATGTACGGATGTCTGC	0.557000										HNSCC(64;0.19)														0							SO:0001819	synonymous_variant			ENST00000504830.1	1	1	hg19	CCDS34140.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1	51	299	0	87	0	9.999827e-01	0	97	0	87	2		0	0	0	0	0	2	1	1	50	294	0	87	2								-19.999760	1	1	121412	1	37	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
RXFP3	51289	broad.mit.edu	37	5	33937494	33937494	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33937494C>T	ENST00000330120.3	+	1	1004	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3			42					GGCCAAGGCGCTGTGTGTGTG	0.692000																								0							SO:0001819	synonymous_variant			ENST00000330120.3	1	1	hg19	CCDS3900.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	1	0	1	36	188	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	36	186	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
RXFP3	51289	broad.mit.edu	37	5	33938247	33938247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33938247G>A	ENST00000330120.3	+	1	1757	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3			42					CAGCAGCTCTGCCTACTGACG	0.726000																								0							SO:0001583	missense			ENST00000330120.3	1	1	hg19	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507128	0.12883	.	.	ENSG00000182631	ENST00000330120	T	0.70986	-0.53	5.64	2.77	0.32553	.	0.501086	0.16447	N	0.214034	T	0.49525	0.1562	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41910	-0.9482	10	0.66056	D	0.02	-9.5993	5.1591	0.15050	0.1941:0.0:0.4271:0.3788	.	468	Q9NSD7	RL3R1_HUMAN	T	468	ENSP00000328708:A468T	ENSP00000328708:A468T	A	+	1	0	RXFP3	33974004	0.000000	0.05858	0.027000	0.17364	0.112000	0.19704	0.380000	0.20602	0.260000	0.21731	-0.181000	0.13052	GCC		TCGA-IB-7651-01A-11D-2154-08	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	1	0	0	9	177	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.942905e-01	9	175	0	31	2								-12.192760	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.570000	0.280000	0.970000	1.000000	0.595986	0.570000	0	4.100000e-01	7.700000e-01
SLC45A2	51151	broad.mit.edu	37	5	33944779	33944779	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33944779C>T	ENST00000296589.4	-	7	1713	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T	SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2			48					ACAAAGAGAGCGACAAAGCAA	0.512000													Ovarian(31;380 859 8490 22203 49048)											0							SO:0001583	missense			ENST00000296589.4	1	1	hg19	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484837	0.84854	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059	D;T	0.88818	-2.43;-1.45	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);	0.113165	0.64402	D	0.000012	D	0.91784	0.7401	M	0.72479	2.2	0.80722	D	1	D	0.53462	0.96	P	0.51079	0.658	D	0.90334	0.4354	10	0.35671	T	0.21	-6.3658	19.9265	0.97104	0.0:1.0:0.0:0.0	.	523	Q9UMX9	S45A2_HUMAN	T	523;464	ENSP00000296589:A523T;ENSP00000341014:A464T	ENSP00000296589:A523T	A	-	1	0	SLC45A2	33980536	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.755000	0.68750	2.723000	0.93209	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	1	0	1	32	168	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	32	166	0	48	2								-3.260267	1	1	121412	9	38	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
AMACR	23600	broad.mit.edu	37	5	33989288	33989288	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33989288T>C	ENST00000335606.6	-	5	1147	c.1059A>G	c.(1057-1059)atA>atG	p.I353M	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.I338M|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M|AMACR_ENST00000382072.2_3'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase			19					ATTCTTCAAGTATCTCCTCAG	0.453000																								0							SO:0001583	missense			ENST00000335606.6	1	1	hg19	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653167	0.67472	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.58652	0.32;0.32;0.32	5.6	-3.41	0.04839	CoA-transferase family III domain (1);	0.157701	0.64402	D	0.000020	T	0.64193	0.2576	M	0.83603	2.65	0.80722	D	1	D;D;D	0.56746	0.977;0.96;0.96	D;P;P	0.63877	0.919;0.832;0.832	T	0.62642	-0.6811	10	0.59425	D	0.04	-6.6573	0.5428	0.00648	0.3107:0.1306:0.2361:0.3225	.	353;338;353	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	M	353;353;338	ENSP00000334424:I353M;ENSP00000371517:I353M;ENSP00000424351:I338M	ENSP00000334424:I353M	I	-	3	3	AMACR	34025045	0.408000	0.25360	0.953000	0.39169	0.897000	0.52465	-0.417000	0.07088	-0.358000	0.08162	0.519000	0.50382	ATA		TCGA-IB-7651-01A-11D-2154-08	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	1	0	1	63	312	0	57	1	9.999227e-01	23	48	0	57	2		0	0	0	0	0	2	1	1	62	307	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAI14	26064	broad.mit.edu	37	5	34803869	34803869	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34803869G>T	ENST00000265109.3	+	5	596	c.309G>T	c.(307-309)agG>agT	p.R103S	RAI14_ENST00000515799.1_Missense_Mutation_p.R106S|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.R95S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14			56	all_lung(31;0.000191)				AATGCATCAGGAAGCTGCTTC	0.368000																								0							SO:0001583	missense			ENST00000265109.3	1	1	hg19	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559349	0.65538	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.59169	0.2174	L	0.45352	1.415	0.43756	D	0.996265	B;B;B;B	0.23806	0.073;0.09;0.091;0.09	B;B;B;B	0.26770	0.033;0.055;0.073;0.055	T	0.54043	-0.8352	9	0.46703	T	0.11	-7.3379	18.5214	0.90954	0.0:0.0:1.0:0.0	.	95;103;106;103	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	103;103;103;103;103;103;103;103;103;103;106;103;103;95;96	ENSP00000265109:R103S;ENSP00000424879:R103S;ENSP00000422112:R103S;ENSP00000422377:R103S;ENSP00000388725:R103S;ENSP00000421424:R103S;ENSP00000422942:R103S;ENSP00000422515:R103S;ENSP00000422114:R103S;ENSP00000424502:R103S;ENSP00000427123:R106S;ENSP00000426770:R103S;ENSP00000425115:R103S;ENSP00000423854:R95S;ENSP00000380591:R96S	ENSP00000265109:R103S	R	+	3	2	RAI14	34839626	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.180000	0.65048	2.814000	0.96858	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	1	0	1	17	72	0	26	1	9.999988e-01	2	116	0	26	2		0	0	0	0	0	2	1	9.999800e-01	17	71	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999649	0.990000	1	9.900000e-01	1
RAI14	26064	broad.mit.edu	37	5	34823310	34823310	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34823310C>A	ENST00000265109.3	+	15	1650	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	RAI14_ENST00000515799.1_Missense_Mutation_p.L458I|RAI14_ENST00000512629.1_Missense_Mutation_p.L426I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I|RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000428746.2_Missense_Mutation_p.L455I|RAI14_ENST00000506376.1_Missense_Mutation_p.L447I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14			56	all_lung(31;0.000191)				GAGAAAACAGCTACAGGTCGA	0.423000																								0							SO:0001583	missense			ENST00000265109.3	0	1	hg19	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939302	0.34189	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.44	3.4	0.38934	.	.	.	.	.	T	0.20373	0.0490	L	0.34521	1.04	0.42043	D	0.991085	P;D;D;D	0.58970	0.879;0.966;0.984;0.966	B;B;P;B	0.47827	0.36;0.284;0.558;0.184	T	0.05937	-1.0855	9	0.56958	D	0.05	-9.4135	2.818	0.05463	0.0:0.3753:0.2344:0.3903	.	447;426;458;455	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	455;426;455;455;458;447;448	ENSP00000265109:L455I;ENSP00000422377:L426I;ENSP00000388725:L455I;ENSP00000422942:L455I;ENSP00000427123:L458I;ENSP00000423854:L447I;ENSP00000380591:L448I	ENSP00000265109:L455I	L	+	1	2	RAI14	34859067	0.947000	0.32204	0.997000	0.53966	0.477000	0.33069	1.743000	0.38258	1.305000	0.44909	-0.266000	0.10368	CTA		TCGA-IB-7651-01A-11D-2154-08	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	0	0	0	9	383	0	97	0	8.181452e-01	0	135	0	97	2		0	0	0	0	0	2	1	9.935623e-01	9	372	0	97	2								-3.351074	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.270000	0.130000	0.470000	0.260000	0.290014	0.270000	0	1.900000e-01	3.800000e-01
RAI14	26064	broad.mit.edu	37	5	34824489	34824489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34824489G>T	ENST00000265109.3	+	15	2829	c.2542G>T	c.(2542-2544)Gaa>Taa	p.E848*	RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14			56	all_lung(31;0.000191)				CAAAGAGCAAGAAGTAAATGA	0.393000																								0							SO:0001587	stop_gained			ENST00000265109.3	0	1	hg19	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	40	8.201637	0.98704	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.9299	19.6676	0.95898	0.0:0.0:1.0:0.0	.	.	.	.	X	848;819;848;848;851;840;841	.	ENSP00000265109:E848X	E	+	1	0	RAI14	34860246	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	8.358000	0.90090	2.658000	0.90341	0.555000	0.69702	GAA		TCGA-IB-7651-01A-11D-2154-08	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	1	0	1	53	296	0	83	1	9.999999e-01	4	136	0	83	2		0	0	0	0	0	2	1	1	53	290	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
AGXT2	64902	broad.mit.edu	37	5	35026586	35026586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35026586C>T	ENST00000231420.6	-	8	999	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2			41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TTGAATTGCTCAATATACTGA	0.378000																								0							SO:0001583	missense			ENST00000231420.6	1	1	hg19	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233410	0.22626	.	.	ENSG00000113492	ENST00000231420	T	0.21734	1.99	5.7	5.7	0.88788	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.329425	0.35838	N	0.002953	T	0.19485	0.0468	L	0.28014	0.82	0.40918	D	0.98428	B;B	0.30914	0.246;0.3	B;B	0.37091	0.241;0.105	T	0.04991	-1.0913	10	0.10111	T	0.7	-14.2225	19.438	0.94806	0.0:1.0:0.0:0.0	.	267;267	E9PDL7;Q9BYV1	.;AGT2_HUMAN	K	267	ENSP00000231420:E267K	ENSP00000231420:E267K	E	-	1	0	AGXT2	35062343	0.997000	0.39634	1.000000	0.80357	0.420000	0.31355	2.187000	0.42602	2.679000	0.91253	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	1	0	1	34	231	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	34	225	0	60	2								-3.076339	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999269	0.990000	1	9.900000e-01	1
PRLR	5618	broad.mit.edu	37	5	35065420	35065420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065420G>T	ENST00000382002.5	-	10	2066	c.1640C>A	c.(1639-1641)gCc>gAc	p.A547D	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor			48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GGACACCTTGGCATACTCCTT	0.493000																								0							SO:0001583	missense			ENST00000382002.5	1	1	hg19	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944679	0.34283	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;D;D	0.89343	-2.5;-1.57;-2.5	5.77	4.9	0.64082	.	0.246910	0.46145	D	0.000310	D	0.92195	0.7525	M	0.74881	2.28	0.26422	N	0.976087	P;D	0.56035	0.956;0.974	P;P	0.54590	0.575;0.756	D	0.87310	0.2311	10	0.72032	D	0.01	-4.9035	14.5909	0.68365	0.0697:0.0:0.9303:0.0	.	547;446	P16471;P16471-2	PRLR_HUMAN;.	D	446;547;446	ENSP00000339213:A446D;ENSP00000371432:A547D;ENSP00000422556:A446D	ENSP00000339213:A446D	A	-	2	0	PRLR	35101177	0.614000	0.27017	0.307000	0.25127	0.035000	0.12851	4.279000	0.58953	1.444000	0.47605	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2	1	0	1	44	287	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	42	278	0	53	2								-19.215160	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999874	0.990000	1	9.900000e-01	1
PRLR	5618	broad.mit.edu	37	5	35065452	35065452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065452C>T	ENST00000382002.5	-	10	2034	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.A346T|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Silent_p.K435K|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor			48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GAGTCCCGGGCTTCTTGGGCT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000382002.5	1	1	hg19	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	4.643	0.119560	0.08881	.	.	ENSG00000113494	ENST00000310101	T	0.76316	-1.01	5.77	2.92	0.33932	.	.	.	.	.	T	0.71937	0.3399	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.63752	-0.6566	6	0.62326	D	0.03	-2.6829	3.6693	0.08268	0.1317:0.4836:0.2567:0.128	.	.	.	.	T	346	ENSP00000309008:A346T	ENSP00000309008:A346T	A	-	1	0	PRLR	35101209	0.002000	0.14202	0.076000	0.20297	0.003000	0.03518	-0.165000	0.09968	0.304000	0.22809	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2	1	0	1	51	313	0	67	0	2.051786e-02	0	2	0	67	2		0	0	0	0	0	2	1	1	49	307	0	65	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
PRLR	5618	broad.mit.edu	37	5	35068880	35068880	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35068880C>T	ENST00000382002.5	-	8	1212		c.e8+1		PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Splice_Site|PRLR_ENST00000509934.1_Intron|PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor			48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CAGTGAAGTACCTATAGCCCT	0.398000																								0							SO:0001630	splice_region_variant			ENST00000382002.5	1	1	hg19	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667185	0.88251	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRLR	35104637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.173000	0.71937	2.882000	0.98803	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2	1	0	1	57	259	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	56	254	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRLR	5618	broad.mit.edu	37	5	35072836	35072836	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35072836G>A	ENST00000382002.5	-	6	810	c.384C>T	c.(382-384)gaC>gaT	p.D128D	PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000511486.1_Silent_p.D27D|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000397391.3_Silent_p.D57D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor			48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CCAAAGGAGGGTCTGGCTGAA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000382002.5	1	1	hg19	CCDS3909.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2	1	0	1	63	307	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1	63	295	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEF2	79925	broad.mit.edu	37	5	35654711	35654711	+	Silent	SNP	C	C	T	rs2270558	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35654711C>T	ENST00000356031.3	+	7	1015	c.861C>T	c.(859-861)gaC>gaT	p.D287D	SPEF2_ENST00000282469.6_Silent_p.D287D|SPEF2_ENST00000440995.2_Silent_p.D287D|SPEF2_ENST00000509059.1_Silent_p.D287D	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2			37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		ACTCAGATGACGAGTACATTA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000356031.3	1	0	hg19	CCDS43309.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	0	0	1	91	426	0	81	0	6.521079e-01	0	12	0	81	2		0	0	0	0	0	2	1	1	91	413	0	80	2								-1.127116	0	1	121410	72961	81	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEF2	79925	broad.mit.edu	37	5	35691298	35691298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35691298G>T	ENST00000356031.3	+	11	1838	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	SPEF2_ENST00000440995.2_Nonsense_Mutation_p.G562*|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2			37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		TGCTGTTAAAGGATGCTTATT	0.403000																								0							SO:0001587	stop_gained			ENST00000356031.3	0	1	hg19	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	36	5.879303	0.97055	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	.	.	.	5.6	5.6	0.85130	.	0.198962	0.43747	D	0.000532	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4062	0.87474	0.0:0.0:1.0:0.0	.	.	.	.	X	562;562;562;73	.	ENSP00000348314:G562X	G	+	1	0	SPEF2	35727055	1.000000	0.71417	0.970000	0.41538	0.456000	0.32438	4.705000	0.61838	2.628000	0.89032	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	1	0	0	83	408	0	93	0	2.709082e-01	0	6	0	93	2		0	0	0	0	0	2	1	1	80	405	0	92	2								-3.095476	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEF2	79925	broad.mit.edu	37	5	35740046	35740046	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740046A>G	ENST00000356031.3	+	22	3243	c.3089A>G	c.(3088-3090)tAc>tGc	p.Y1030C	SPEF2_ENST00000440995.2_Missense_Mutation_p.Y1025C|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2			37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		TTAGTACCTTACTGGGAACTA	0.338000																								0							SO:0001583	missense			ENST00000356031.3	1	1	hg19	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649146	0.67358	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.06687	3.28;3.27	5.83	4.63	0.57726	.	0.217033	0.39146	N	0.001450	T	0.27241	0.0668	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.963	T	0.01056	-1.1466	10	0.72032	D	0.01	.	12.3798	0.55301	0.8742:0.0:0.0:0.1258	.	1025;1030	Q9C093-2;Q9C093	.;SPEF2_HUMAN	C	1030;1025	ENSP00000348314:Y1030C;ENSP00000412125:Y1025C	ENSP00000348314:Y1030C	Y	+	2	0	SPEF2	35775803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.396000	0.59684	2.236000	0.73375	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	1	0	1	49	243	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	49	237	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPEF2	79925	broad.mit.edu	37	5	35740347	35740347	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740347C>T	ENST00000356031.3	+	23	3462	c.3308C>T	c.(3307-3309)gCt>gTt	p.A1103V	SPEF2_ENST00000440995.2_Missense_Mutation_p.A1098V|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2			37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		GAAACAAAGGCTGAACTACAT	0.448000																								0							SO:0001583	missense			ENST00000356031.3	1	1	hg19	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442304	0.83993	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08193	3.12;3.12	5.83	4.94	0.65067	.	0.328508	0.31082	N	0.008292	T	0.19685	0.0473	M	0.68593	2.085	0.80722	D	1	D;P	0.63046	0.992;0.792	P;B	0.54270	0.747;0.326	T	0.00551	-1.1675	10	0.66056	D	0.02	.	12.3549	0.55169	0.1337:0.7376:0.1287:0.0	.	1098;1103	Q9C093-2;Q9C093	.;SPEF2_HUMAN	V	1103;1098	ENSP00000348314:A1103V;ENSP00000412125:A1098V	ENSP00000348314:A1103V	A	+	2	0	SPEF2	35776104	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.036000	0.49767	1.419000	0.47118	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	1	0	1	86	508	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	81	504	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL7R	3575	broad.mit.edu	37	5	35876421	35876421	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35876421C>A	ENST00000303115.3	+	8	1342	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor			126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		CCAGGACCTCCTGCTTAGCCT	0.542000			Mis, O		ALL, ETP ALL		Severe combined immune deficiency								Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0							SO:0001583	missense			ENST00000303115.3	1	1	hg19	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999598	0.19121	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.56611	1.57;0.45	5.6	1.84	0.25277	.	1.733490	0.03338	N	0.194382	T	0.67832	0.2935	M	0.66939	2.045	0.09310	N	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.30794	-0.9966	10	0.49607	T	0.09	-5.7828	4.1864	0.10400	0.1611:0.5833:0.0:0.2555	.	405	P16871	IL7RA_HUMAN	M	405;171	ENSP00000306157:L405M;ENSP00000420923:L171M	ENSP00000306157:L405M	L	+	1	2	IL7R	35912178	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.328000	0.19681	0.048000	0.15891	-0.961000	0.02630	CTG		TCGA-IB-7651-01A-11D-2154-08	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2	1	0	1	55	231	0	59	0	9.999938e-01	0	78	0	59	2		0	0	0	0	0	2	1	9.999998e-01	52	224	1	57	16								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGT3A1	133688	broad.mit.edu	37	5	35957307	35957307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35957307G>A	ENST00000274278.3	-	5	1415	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1			46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		GTCACTCTGAGGAAGCCAGTC	0.498000																								0							SO:0001583	missense			ENST00000274278.3	1	1	hg19	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.740034	0.49045	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	D;D;D	0.83163	-1.69;-1.69;-1.69	3.01	3.01	0.34805	.	0.076413	0.52532	D	0.000061	D	0.93527	0.7934	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.986;0.998;0.998	D	0.95307	0.8408	10	0.87932	D	0	.	13.5811	0.61903	0.0:0.0:1.0:0.0	.	319;353;353	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	L	353;353;319	ENSP00000274278:P353L;ENSP00000427079:P353L;ENSP00000426100:P319L	ENSP00000274278:P353L	P	-	2	0	UGT3A1	35993064	1.000000	0.71417	0.997000	0.53966	0.243000	0.25628	7.165000	0.77544	1.615000	0.50252	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	1	32	183	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	30	177	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999885	0.990000	1	9.900000e-01	1
UGT3A1	133688	broad.mit.edu	37	5	35965575	35965575	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965575A>C	ENST00000274278.3	-	4	1113	c.756T>G	c.(754-756)gaT>gaG	p.D252E	UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1			46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		CAAAGGCAAAATCAGAGTTAA	0.433000																								0							SO:0001583	missense			ENST00000274278.3	1	1	hg19	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617917	0.46736	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	3.05	0.95	0.19572	.	0.000000	0.64402	D	0.000001	T	0.73613	0.3609	M	0.88704	2.975	0.37020	D	0.896172	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79108	0.975;0.99;0.992;0.99	T	0.73119	-0.4083	10	0.32370	T	0.25	.	8.1298	0.31020	0.2254:0.0:0.7746:0.0	.	218;252;198;252	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	E	252;252;218;198	ENSP00000274278:D252E;ENSP00000427079:D252E;ENSP00000426100:D218E;ENSP00000328033:D198E	ENSP00000274278:D252E	D	-	3	2	UGT3A1	36001332	1.000000	0.71417	0.966000	0.40874	0.875000	0.50365	0.433000	0.21477	0.091000	0.17302	-0.736000	0.03550	GAT		TCGA-IB-7651-01A-11D-2154-08	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	1	77	390	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	75	383	0	76	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGT3A1	133688	broad.mit.edu	37	5	35965841	35965841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965841C>T	ENST00000274278.3	-	4	847	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	UGT3A1_ENST00000507113.1_Missense_Mutation_p.A130T|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1			46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		GGAAGAATGGCCACAAATGGT	0.418000																								0							SO:0001583	missense			ENST00000274278.3	1	1	hg19	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547282	0.45383	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	2.93	-1.91	0.07641	.	0.258333	0.29119	N	0.013088	T	0.52901	0.1763	L	0.36672	1.1	0.09310	N	1	P;P;B;B	0.49358	0.923;0.571;0.317;0.237	P;B;B;B	0.51550	0.673;0.292;0.267;0.292	T	0.56475	-0.7973	10	0.72032	D	0.01	.	12.1012	0.53785	0.2525:0.7475:0.0:0.0	.	130;164;110;164	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	T	164;164;130;110	ENSP00000274278:A164T;ENSP00000427079:A164T;ENSP00000426100:A130T;ENSP00000328033:A110T	ENSP00000274278:A164T	A	-	1	0	UGT3A1	36001598	0.000000	0.05858	0.005000	0.12908	0.436000	0.31835	-0.692000	0.05127	-0.086000	0.12550	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	0	29	275	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	26	270	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.760000	1.000000	1.000000	0.969727	0.990000	1	9.100000e-01	1
UGT3A1	133688	broad.mit.edu	37	5	35965947	35965947	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965947C>A	ENST00000274278.3	-	4	741	c.384G>T	c.(382-384)aaG>aaT	p.K128N	UGT3A1_ENST00000507113.1_Missense_Mutation_p.K94N|UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1			46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		CCATTATATCCTTTCTGCTTA	0.308000																								0							SO:0001583	missense			ENST00000274278.3	1	1	hg19	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762943	0.31228	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	3.0	0.921	0.19403	.	1.432420	0.04533	N	0.386617	T	0.55721	0.1938	L	0.52759	1.655	0.09310	N	1	B;B;B;B	0.17038	0.007;0.02;0.004;0.011	B;B;B;B	0.23716	0.015;0.048;0.007;0.033	T	0.44050	-0.9353	10	0.59425	D	0.04	.	3.3871	0.07276	0.4313:0.3496:0.0:0.2191	.	94;128;74;128	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	N	128;128;94;74	ENSP00000274278:K128N;ENSP00000427079:K128N;ENSP00000426100:K94N;ENSP00000328033:K74N	ENSP00000274278:K128N	K	-	3	2	UGT3A1	36001704	0.000000	0.05858	0.005000	0.12908	0.737000	0.42083	-0.697000	0.05098	0.029000	0.15352	0.313000	0.20887	AAG		TCGA-IB-7651-01A-11D-2154-08	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	1	41	232	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	40	226	0	61	2								-2.699014	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
UGT3A1	133688	broad.mit.edu	37	5	35988604	35988604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35988604C>A	ENST00000274278.3	-	2	501	c.144G>T	c.(142-144)gaG>gaT	p.E48D	UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1			46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		TATGACCATGCTCTTGAAGAA	0.343000																								0							SO:0001583	missense			ENST00000274278.3	1	1	hg19	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	1.370	-0.586342	0.03827	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	T;T	0.61859	0.07;0.07	3.2	-3.12	0.05282	.	0.820851	0.10380	N	0.681632	T	0.16727	0.0402	N	0.00566	-1.37	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	T	0.21655	-1.0239	10	0.14656	T	0.56	.	2.8826	0.05652	0.2244:0.5073:0.1148:0.1535	.	48;48	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	D	48	ENSP00000274278:E48D;ENSP00000427079:E48D	ENSP00000274278:E48D	E	-	3	2	UGT3A1	36024361	0.716000	0.27956	0.976000	0.42696	0.404000	0.30871	-0.858000	0.04281	-0.339000	0.08401	-0.538000	0.04264	GAG		TCGA-IB-7651-01A-11D-2154-08	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	1	0	0	15	230	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	9.998829e-01	15	229	0	65	2								-5.688280	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.710000	0.420000	1.000000	1.000000	0.726523	0.710000	0	5.500000e-01	9.000000e-01
IRX1	79192	broad.mit.edu	37	5	3599539	3599539	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599539G>T	ENST00000302006.3	+	2	529	c.477G>T	c.(475-477)gaG>gaT	p.E159D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1			43					CCAAGGGCGAGAAGATCATGC	0.637000																								0							SO:0001583	missense			ENST00000302006.3	1	1	hg19	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015539	0.93404	.	.	ENSG00000170549	ENST00000302006	D	0.85702	-2.02	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89451	0.3730	10	0.46703	T	0.11	.	17.5082	0.87753	0.0:0.0:1.0:0.0	.	159	P78414	IRX1_HUMAN	D	159	ENSP00000305244:E159D	ENSP00000305244:E159D	E	+	3	2	IRX1	3652539	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.478000	0.73596	2.173000	0.68751	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	1	0	1	85	500	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	85	494	0	124	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRX1	79192	broad.mit.edu	37	5	3599698	3599698	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599698C>T	ENST00000302006.3	+	2	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1			43					ACACCGAGGGCGACCCGGAGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000302006.3	1	1	hg19	CCDS34132.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	1	0	0	14	296	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.997317e-01	13	291	0	55	2								-15.376280	1	1	121408	1	31	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.520000	0.300000	0.820000	0.510000	0.547182	0.520000	0	4.000000e-01	6.800000e-01
IRX1	79192	broad.mit.edu	37	5	3600167	3600167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600167G>A	ENST00000302006.3	+	2	1157	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1			43					CTGCCACATCGGCAAGTTCTC	0.711000																								0							SO:0001583	missense			ENST00000302006.3	0	1	hg19	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007181	0.75046	.	.	ENSG00000170549	ENST00000302006	T	0.69561	-0.41	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	L	0.60455	1.87	0.58432	D	0.999999	D	0.69078	0.997	P	0.51016	0.656	T	0.70842	-0.4762	10	0.30854	T	0.27	.	17.2481	0.87034	0.0:0.0:1.0:0.0	.	369	P78414	IRX1_HUMAN	S	369	ENSP00000305244:G369S	ENSP00000305244:G369S	G	+	1	0	IRX1	3653167	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.329000	0.79170	2.018000	0.59344	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	0	0	0	16	94	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999533e-01	16	93	0	16	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.970000	1.000000	1.000000	0.997022	0.990000	1	9.900000e-01	1
IRX1	79192	broad.mit.edu	37	5	3600738	3600738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600738C>T	ENST00000302006.3	+	3	1380	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1			43					GACCTCGTCCCCAGGCCAGAT	0.617000																								0							SO:0001583	missense			ENST00000302006.3	1	1	hg19	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	6.284	0.420504	0.11928	.	.	ENSG00000170549	ENST00000302006	T	0.56941	0.43	4.17	3.3	0.37823	.	0.611325	0.15458	N	0.261247	T	0.37919	0.1021	N	0.22421	0.69	0.40193	D	0.977423	B	0.02656	0.0	B	0.04013	0.001	T	0.12477	-1.0546	10	0.33940	T	0.23	.	11.74	0.51788	0.0:0.9124:0.0:0.0876	.	443	P78414	IRX1_HUMAN	L	443	ENSP00000305244:P443L	ENSP00000305244:P443L	P	+	2	0	IRX1	3653738	1.000000	0.71417	0.397000	0.26308	0.201000	0.24016	2.611000	0.46334	0.729000	0.32403	0.467000	0.42956	CCC		TCGA-IB-7651-01A-11D-2154-08	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	1	0	0	69	407	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	68	402	0	99	2								-2.807378	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
UGT3A2	167127	broad.mit.edu	37	5	36038073	36038073	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36038073C>T	ENST00000282507.3	-	6	1222	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S340N|UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2			43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		CTCCATTATGCTATTCTGCCC	0.493000																								0							SO:0001583	missense			ENST00000282507.3	1	1	hg19	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707516	0.68615	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76578	-1.03;-1.03;2.04	3.32	3.32	0.38043	.	0.000000	0.85682	U	0.000000	D	0.90793	0.7109	H	0.95402	3.665	0.41111	D	0.985742	P;D	0.89917	0.89;1.0	P;D	0.76071	0.758;0.987	D	0.93692	0.7008	10	0.87932	D	0	.	14.5961	0.68407	0.0:1.0:0.0:0.0	.	340;374	E9PFK7;Q3SY77	.;UD3A2_HUMAN	N	374;340;72	ENSP00000282507:S374N;ENSP00000427404:S340N;ENSP00000445367:S72N	ENSP00000282507:S374N	S	-	2	0	UGT3A2	36073830	0.866000	0.29940	0.464000	0.27143	0.662000	0.39071	4.879000	0.63100	2.159000	0.67721	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	1	0	1	86	394	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	85	387	0	64	2								-3.381178	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGT3A2	167127	broad.mit.edu	37	5	36049058	36049058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36049058C>T	ENST00000282507.3	-	4	877	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2			43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		AAGCAGAGGTCGAGCAAAATC	0.423000																								0							SO:0001583	missense			ENST00000282507.3	1	1	hg19	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611891	0.46631	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61510	0.1;0.1	3.45	2.58	0.30949	.	0.305261	0.27495	N	0.019106	T	0.50463	0.1617	M	0.75150	2.29	0.80722	D	1	B;P	0.38711	0.327;0.643	B;B	0.33196	0.148;0.159	T	0.53627	-0.8412	10	0.54805	T	0.06	.	7.1791	0.25761	0.0:0.7815:0.0:0.2185	.	225;259	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Q	259;225	ENSP00000282507:R259Q;ENSP00000427404:R225Q	ENSP00000282507:R259Q	R	-	2	0	UGT3A2	36084815	0.005000	0.15991	0.830000	0.32933	0.940000	0.58332	1.044000	0.30329	1.034000	0.39945	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	1	0	1	89	396	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	89	391	0	80	2								-20.000000	1	1	121408	2	37	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMBRD2	92255	broad.mit.edu	37	5	36108727	36108727	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36108727A>C	ENST00000296603.4	-	16	2268	c.1806T>G	c.(1804-1806)cgT>cgG	p.R602R		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2			35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		TGTGTCCATAACGTTCTTTCC	0.303000																								0							SO:0001819	synonymous_variant			ENST00000296603.4	1	1	hg19	CCDS34145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	1	0	1	25	94	0	38	1	9.973222e-01	13	26	0	38	2		0	0	0	0	0	2	1	9.999999e-01	25	92	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
LMBRD2	92255	broad.mit.edu	37	5	36122989	36122989	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36122989G>A	ENST00000296603.4	-	8	1359	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2			35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		CACTTGGATAGATACTATGCT	0.269000																								0							SO:0001819	synonymous_variant			ENST00000296603.4	1	1	hg19	CCDS34145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	1	0	0	23	284	0	38	1	7.623030e-01	3	33	0	38	2		0	0	0	0	0	2	1	9.999993e-01	22	279	0	38	2								-3.318805	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.860000	0.570000	1.000000	1.000000	0.856276	0.860000	1	7.000000e-01	1
LMBRD2	92255	broad.mit.edu	37	5	36141208	36141208	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36141208C>T	ENST00000296603.4	-	4	831		c.e4+1			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2			35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		CTGTAACTTACCATGTTAAAA	0.313000																								0							SO:0001630	splice_region_variant			ENST00000296603.4	1	1	hg19	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315342	0.81358	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBRD2	36176965	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.350000	0.79385	2.491000	0.84063	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	1	0	1	45	230	0	68	1	2.624910e-01	5	1	0	68	2		0	0	0	0	0	2	1	1	45	225	0	67	2								-19.999840	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SKP2	6502	broad.mit.edu	37	5	36168460	36168460	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36168460A>G	ENST00000274255.6	+	5	778	c.582A>G	c.(580-582)gaA>gaG	p.E194E	SKP2_ENST00000274254.5_Silent_p.E194E|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase			4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		CAGTTATAGAAGTGTCCACCC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000274255.6	1	1	hg19	CCDS3916.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	1	0	1	260	1034	0	250	1	9.772424e-01	11	15	0	250	2		0	0	0	0	0	2	1	1	254	1014	0	249	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RANBP3L	202151	broad.mit.edu	37	5	36255604	36255604	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36255604C>A	ENST00000296604.3	-	11	1477	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like			16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		ACAGTCAGTGCTTGCTGTGTC	0.363000																								0							SO:0001583	missense			ENST00000296604.3	1	1	hg19	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641773	0.67244	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.44083	0.93;0.93	5.87	3.89	0.44902	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.454909	0.24345	N	0.039337	T	0.60196	0.2250	M	0.77313	2.365	0.39277	D	0.964496	D;D	0.61080	0.984;0.989	D;D	0.68943	0.961;0.919	T	0.65483	-0.6157	10	0.87932	D	0	-0.023	8.1223	0.30978	0.0:0.7124:0.1307:0.1569	.	356;331	E9PGP9;Q86VV4	.;RNB3L_HUMAN	I	331;356	ENSP00000296604:S331I;ENSP00000421853:S356I	ENSP00000296604:S331I	S	-	2	0	RANBP3L	36291361	0.827000	0.29292	0.990000	0.47175	0.982000	0.71751	1.325000	0.33724	1.463000	0.47967	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	1	0	1	59	430	0	86	0	1.169194e-01	0	5	0	86	2		0	0	0	0	0	2	1	1	59	422	0	86	2								-19.996700	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999779	0.990000	1	9.900000e-01	1
NIPBL	25836	broad.mit.edu	37	5	36961636	36961636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36961636C>T	ENST00000282516.8	+	5	908	c.409C>T	c.(409-411)Cct>Tct	p.P137S	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		GCACAGTAGTCCTGCATCTTC	0.328000																								0							SO:0001583	missense			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164427	0.78339	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95518	-3.72;-3.73	5.01	5.01	0.66863	.	0.204155	0.42821	D	0.000642	D	0.96531	0.8868	M	0.62723	1.935	0.51482	D	0.999924	D;D	0.69078	0.994;0.997	P;P	0.59357	0.637;0.856	D	0.95418	0.8504	10	0.30078	T	0.28	.	18.2672	0.90055	0.0:1.0:0.0:0.0	.	137;137	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	137	ENSP00000282516:P137S;ENSP00000406266:P137S	ENSP00000282516:P137S	P	+	1	0	NIPBL	36997393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.481000	0.83766	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1	71	387	0	104	1	9.970595e-01	7	43	0	104	2		0	0	0	0	0	2	1	1	70	382	0	104	2								-20.000000	1	1	121402	1	30	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NIPBL	25836	broad.mit.edu	37	5	37000589	37000589	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000589G>A	ENST00000282516.8	+	12	3918	c.3419G>A	c.(3418-3420)aGt>aAt	p.S1140N	NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		GGAAGAAGGAGTTCAGGTGGT	0.453000																								0							SO:0001583	missense			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975683	0.53720	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93366	-3.21;-3.21	5.81	5.81	0.92471	.	0.098581	0.64402	D	0.000001	D	0.84306	0.5443	N	0.08118	0	0.36449	D	0.865984	B;B	0.30281	0.039;0.275	B;B	0.27715	0.011;0.082	D	0.84191	0.0445	10	0.25106	T	0.35	.	12.7995	0.57578	0.0:0.1238:0.7477:0.1285	.	1140;1140	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	1140	ENSP00000282516:S1140N;ENSP00000406266:S1140N	ENSP00000282516:S1140N	S	+	2	0	NIPBL	37036346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.341000	0.65964	2.759000	0.94783	0.591000	0.81541	AGT		TCGA-IB-7651-01A-11D-2154-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1	68	352	0	92	1	9.999762e-01	22	60	0	92	2		0	0	0	0	0	2	1	1	65	343	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NIPBL	25836	broad.mit.edu	37	5	37000985	37000985	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000985C>A	ENST00000282516.8	+	13	4068	c.3569C>A	c.(3568-3570)cCt>cAt	p.P1190H	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		AAACTAACACCTGAAGGTAAC	0.299000																								0							SO:0001583	missense			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126788	0.20959	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93307	-3.19;-3.2	5.91	5.91	0.95273	.	0.125114	0.56097	D	0.000033	D	0.90086	0.6903	L	0.36672	1.1	0.42382	D	0.992496	B;B	0.30741	0.293;0.261	B;B	0.19946	0.022;0.027	D	0.87524	0.2448	10	0.52906	T	0.07	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	1190;1190	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1190	ENSP00000282516:P1190H;ENSP00000406266:P1190H	ENSP00000282516:P1190H	P	+	2	0	NIPBL	37036742	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.719000	0.47244	2.791000	0.96007	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1	26	127	0	57	1	9.998470e-01	23	49	0	57	2		0	0	0	0	0	2	1	1	26	124	0	56	2								-2.935620	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999922	0.990000	1	9.900000e-01	1
NIPBL	25836	broad.mit.edu	37	5	37020568	37020568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37020568G>A	ENST00000282516.8	+	26	5517	c.5018G>A	c.(5017-5019)cGt>cAt	p.R1673H	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		CAGTTTTCTCGTAAATTCTAT	0.343000																								0							SO:0001583	missense			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592420	0.86953	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94280	-3.39;-3.39	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.69523	2.12	0.58432	D	0.999998	P;D	0.55385	0.915;0.971	B;P	0.49451	0.406;0.611	D	0.93068	0.6480	10	0.31617	T	0.26	.	19.5885	0.95498	0.0:0.0:1.0:0.0	.	1673;1673	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	1673	ENSP00000282516:R1673H;ENSP00000406266:R1673H	ENSP00000282516:R1673H	R	+	2	0	NIPBL	37056325	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.403000	0.73264	2.647000	0.89833	0.585000	0.79938	CGT		TCGA-IB-7651-01A-11D-2154-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1	30	179	0	49	1	9.999949e-01	29	90	0	49	2		0	0	0	0	0	2	1	1	29	174	0	49	2								-20.000000	1	1	121408	1	28	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999732	0.990000	1	9.900000e-01	1
NIPBL	25836	broad.mit.edu	37	5	37045656	37045656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37045656G>A	ENST00000282516.8	+	37	6954	c.6455G>A	c.(6454-6456)cGg>cAg	p.R2152Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		GCACTATGTCGGCATTTTGAT	0.363000																								0							SO:0001583	missense			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601606	0.96614	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65732	-0.17;-0.17	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.987;0.989	T	0.77225	-0.2666	10	0.51188	T	0.08	-7.466	19.7999	0.96502	0.0:0.0:1.0:0.0	.	2152;2152	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	2152	ENSP00000282516:R2152Q;ENSP00000406266:R2152Q	ENSP00000282516:R2152Q	R	+	2	0	NIPBL	37081413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.388000	0.97237	2.753000	0.94483	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1	219	891	0	186	1	1	25	102	0	186	2		0	0	0	0	0	2	1	1	215	869	0	184	2								-3.557305	1	1	121412	1	34	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NIPBL	25836	broad.mit.edu	37	5	37051924	37051924	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051924C>T	ENST00000282516.8	+	41	7497	c.6998C>T	c.(6997-6999)gCt>gTt	p.A2333V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		CCAGAACCTGCTATGCGGAAC	0.318000																								0							SO:0001583	missense			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452098	0.43531	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.177968	0.49916	D	0.000135	T	0.41949	0.1181	N	0.04090	-0.28	0.43110	D	0.99481	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.15052	0.009;0.012;0.005	T	0.37663	-0.9696	10	0.11794	T	0.64	-12.0814	19.8167	0.96571	0.0:1.0:0.0:0.0	.	2333;2333;2333	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	V	2333	ENSP00000282516:A2333V;ENSP00000406266:A2333V	ENSP00000282516:A2333V	A	+	2	0	NIPBL	37087681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	2.685000	0.91497	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1	60	214	0	66	1	1	32	99	0	66	2		0	0	0	0	0	2	1	1	58	212	0	66	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NIPBL	25836	broad.mit.edu	37	5	37051929	37051929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051929C>T	ENST00000282516.8	+	41	7502	c.7003C>T	c.(7003-7005)Cgg>Tgg	p.R2335W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		ACCTGCTATGCGGAACAAGGC	0.313000																								0							SO:0001583	missense			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.828942	0.71258	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.73363	-0.74;-0.74	5.69	3.78	0.43462	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.81341	2.54	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.99;0.985	D	0.86754	0.1962	10	0.72032	D	0.01	-6.7737	14.2046	0.65725	0.4468:0.5532:0.0:0.0	.	2335;2335;2335	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	W	2335	ENSP00000282516:R2335W;ENSP00000406266:R2335W	ENSP00000282516:R2335W	R	+	1	2	NIPBL	37087686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.838000	0.39211	0.593000	0.29745	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1	44	233	0	66	1	9.999999e-01	19	121	0	66	2		0	0	0	0	0	2	1	1	43	230	0	66	2								-3.338836	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
NIPBL	25836	broad.mit.edu	37	5	37059079	37059079	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37059079G>A	ENST00000282516.8	+	44	7996	c.7497G>A	c.(7495-7497)agG>agA	p.R2499R	NIPBL_ENST00000448238.2_Silent_p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)			128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		AAGTTTCCAGGCCTCGGAAGT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000282516.8	1	1	hg19	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103346	0.20632	.	.	ENSG00000164190	ENST00000507919	.	.	.	5.85	0.934	0.19477	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41963	-0.9479	4	.	.	.	-10.4478	6.6505	0.22959	0.3878:0.1117:0.5005:0.0	.	.	.	.	D	5	.	.	G	+	2	0	NIPBL	37094836	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.177000	0.31969	0.098000	0.17522	-0.251000	0.11542	GGC		TCGA-IB-7651-01A-11D-2154-08	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	1	0	1	64	392	0	92	1	1	34	126	0	92	2		0	0	0	0	0	2	1	1	64	389	0	91	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
C5orf42	65250	broad.mit.edu	37	5	37138820	37138820	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37138820A>G	ENST00000508244.1	-	44	8724		c.e44+1		C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42			79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		TTCAATGATTACCTGGAGGTG	0.308000																								0							SO:0001630	splice_region_variant			ENST00000508244.1	1	1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387604	0.42308	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1914	0.59713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf42	37174577	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.857000	0.62939	2.112000	0.64535	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	0	33	442	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	33	437	0	92	2								-8.513098	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.800000	0.560000	1.000000	1.000000	0.809677	0.800000	0	6.700000e-01	9.400000e-01
C5orf42	65250	broad.mit.edu	37	5	37153929	37153929	+	Silent	SNP	G	G	A	rs114126795	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37153929G>A	ENST00000508244.1	-	40	8217	c.8124C>T	c.(8122-8124)gaC>gaT	p.D2708D	C5orf42_ENST00000274258.7_Silent_p.D1606D|C5orf42_ENST00000425232.2_Silent_p.D2708D			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42			79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		GCAACTGCTCGTCAATTTTCT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000508244.1	1	0	hg19	CCDS34146.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	0	0	1	68	323	0	70	1	7.281450e-01	2	12	0	70	2		0	0	0	0	0	2	1	1	68	319	0	70	2								-2.863996	1	1	121410	773	61	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C5orf42	65250	broad.mit.edu	37	5	37181020	37181020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37181020C>T	ENST00000508244.1	-	26	5602	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	C5orf42_ENST00000274258.7_Missense_Mutation_p.A718T|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42			79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		CCTGGAGTTGCTACTGCAACT	0.408000																								0							SO:0001583	missense			ENST00000508244.1	1	1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988272	0.53934	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.49	-3.59	0.04583	.	1.663970	0.03492	N	0.216836	T	0.08582	0.0213	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.10450	0.005;0.005	T	0.22417	-1.0217	10	0.02654	T	1	.	1.5266	0.02526	0.1462:0.3921:0.1864:0.2753	.	1837;718	E9PH94;Q9H799	.;CE042_HUMAN	T	1837;1837;718;885;718	ENSP00000421690:A1837T;ENSP00000389014:A1837T;ENSP00000274258:A718T;ENSP00000424223:A885T	ENSP00000274258:A718T	A	-	1	0	C5orf42	37216777	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.426000	0.07008	-0.310000	0.08766	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1	42	213	0	49	1	6.591321e-01	3	10	0	49	2		0	0	0	0	0	2	1	1	42	209	0	49	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
C5orf42	65250	broad.mit.edu	37	5	37187589	37187589	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187589C>T	ENST00000508244.1	-	22	4100	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	C5orf42_ENST00000274258.7_Missense_Mutation_p.R217Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42			79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		ATTAAAAAACCGAGAGAAAGG	0.378000																								0							SO:0001583	missense			ENST00000508244.1	1	1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	35	5.421270	0.96111	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27256	1.72;1.72;1.68;1.69	5.53	5.53	0.82687	.	0.000000	0.40640	N	0.001043	T	0.40694	0.1127	N	0.24115	0.695	0.35035	D	0.759169	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49542	-0.8929	10	0.62326	D	0.03	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	1336;217	E9PH94;Q9H799	.;CE042_HUMAN	Q	1336;1336;217;384;217	ENSP00000421690:R1336Q;ENSP00000389014:R1336Q;ENSP00000274258:R217Q;ENSP00000424223:R384Q	ENSP00000274258:R217Q	R	-	2	0	C5orf42	37223346	0.998000	0.40836	0.998000	0.56505	0.977000	0.68977	3.992000	0.56980	2.755000	0.94549	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1	41	236	0	41	0	1.670731e-01	0	5	0	41	2		0	0	0	0	0	2	1	1	41	229	0	41	2								-2.848165	1	1	121410	1	24	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
C5orf42	65250	broad.mit.edu	37	5	37187945	37187945	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187945C>T	ENST00000508244.1	-	21	3905		c.e21-1		C5orf42_ENST00000274258.7_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42			79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		CTGAAGCAACCTAAAGCAGGA	0.343000																								0							SO:0001630	splice_region_variant			ENST00000508244.1	1	1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003492	0.54254	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.49	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2017	0.54331	0.0:0.8613:0.0:0.1387	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf42	37223702	1.000000	0.71417	0.984000	0.44739	0.698000	0.40448	4.907000	0.63300	0.810000	0.34279	0.491000	0.48974	.		TCGA-IB-7651-01A-11D-2154-08	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1	25	133	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	9.999999e-01	25	130	0	39	2								-14.813560	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999785	0.990000	1	9.900000e-01	1
C5orf42	65250	broad.mit.edu	37	5	37201716	37201716	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37201716G>T	ENST00000508244.1	-	18	3577	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	C5orf42_ENST00000274258.7_Missense_Mutation_p.P43T|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42			79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		GCTGGCTGGGGACAGTACAAT	0.353000																								0							SO:0001583	missense			ENST00000508244.1	1	1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675047	0.88445	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.78003	-0.98;-0.98;-1.14;-1.12	5.48	4.6	0.57074	.	0.165071	0.29185	N	0.012897	T	0.81211	0.4775	L	0.29908	0.895	0.46654	D	0.999146	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.973	D	0.83379	0.0011	10	0.87932	D	0	.	14.1668	0.65483	0.0724:0.0:0.9276:0.0	.	1162;43	E9PH94;Q9H799	.;CE042_HUMAN	T	1162;1162;43;210;43	ENSP00000421690:P1162T;ENSP00000389014:P1162T;ENSP00000274258:P43T;ENSP00000424223:P210T	ENSP00000274258:P43T	P	-	1	0	C5orf42	37237473	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.992000	0.93519	1.315000	0.45114	0.313000	0.20887	CCC		TCGA-IB-7651-01A-11D-2154-08	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	1	0	1	75	357	0	107	0	2.830569e-01	1	5	0	107	2		0	0	0	0	0	2	1	1	75	354	0	107	2								-3.359513	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP155	9631	broad.mit.edu	37	5	37324155	37324155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37324155C>T	ENST00000231498.3	-	20	2349	c.2146G>A	c.(2146-2148)Ggt>Agt	p.G716S	NUP155_ENST00000381843.2_Missense_Mutation_p.G657S|NUP155_ENST00000513532.1_Missense_Mutation_p.G716S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa			62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		TCCTGCAAACCCTTTAGTTCT	0.353000																								0							SO:0001583	missense			ENST00000231498.3	1	1	hg19	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103159	0.56183	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.75260	-0.91;-0.92;-0.83	5.78	5.78	0.91487	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.045015	0.85682	D	0.000000	T	0.64897	0.2640	N	0.21097	0.63	0.80722	D	1	B;B	0.25486	0.127;0.008	B;B	0.34991	0.193;0.046	T	0.59418	-0.7458	10	0.02654	T	1	.	20.01	0.97447	0.0:1.0:0.0:0.0	.	716;716	E9PF10;O75694	.;NU155_HUMAN	S	716;657;678;716	ENSP00000231498:G716S;ENSP00000371265:G657S;ENSP00000422019:G716S	ENSP00000231498:G716S	G	-	1	0	NUP155	37359912	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.876000	0.75556	2.725000	0.93324	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	1	0	1	43	220	0	45	1	9.973080e-01	13	36	0	45	2		0	0	0	0	0	2	1	1	43	216	0	44	2								-3.153498	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NUP155	9631	broad.mit.edu	37	5	37331826	37331826	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37331826T>C	ENST00000231498.3	-	14	1793	c.1590A>G	c.(1588-1590)ggA>ggG	p.G530G	NUP155_ENST00000381843.2_Silent_p.G471G|NUP155_ENST00000513532.1_Silent_p.G530G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa			62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		CTTCTCCATCTCCTCCCACAT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000231498.3	1	1	hg19	CCDS3921.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	1	0	1	79	313	0	80	1	9.981252e-01	12	28	0	80	2		0	0	0	0	0	2	1	1	79	308	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR70	55100	broad.mit.edu	37	5	37479970	37479970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37479970G>T	ENST00000265107.4	+	8	877	c.721G>T	c.(721-723)Gga>Tga	p.G241*	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70			37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		TAGTAACACAGGAGACATGAT	0.348000																								0							SO:0001587	stop_gained			ENST00000265107.4	0	1	hg19	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	40	8.390321	0.98791	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.2527	19.5183	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000265107:G241X	G	+	1	0	WDR70	37515727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.270000	0.95690	2.633000	0.89246	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	0	0	1	130	574	1	142	1	9.991923e-01	5	54	1	142	3		0	0	0	0	0	2	1	1	129	567	1	140	17								-2.766873	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR70	55100	broad.mit.edu	37	5	37723012	37723012	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37723012C>T	ENST00000265107.4	+	15	1729	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70			37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		AGCTGAGACTCTAACTCAGGA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000265107.4	1	1	hg19	CCDS34147.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	1	0	1	60	283	0	66	1	9.980910e-01	11	36	0	66	2		0	0	0	0	0	2	1	1	60	279	0	66	2								-3.078638	1	1	121404	1	42	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGFLAM	133584	broad.mit.edu	37	5	38407154	38407154	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38407154C>A	ENST00000354891.3	+	8	1399	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Silent_p.L351L	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains			85	all_lung(31;0.000385)				ATGAAACTCTCTGCTCTGCTG	0.557000													Colon(62;485 1295 3347 17454)											0							SO:0001819	synonymous_variant			ENST00000354891.3	1	1	hg19	CCDS56363.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	0	0	0	14	341	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	9.997536e-01	14	338	0	78	2								-3.374482	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.460000	0.260000	0.720000	0.450000	0.479403	0.460000	0	3.500000e-01	5.900000e-01
EGFLAM	133584	broad.mit.edu	37	5	38409193	38409193	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38409193T>G	ENST00000354891.3	+	10	1682	c.1336T>G	c.(1336-1338)Tcc>Gcc	p.S446A	EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.S446A	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains			85	all_lung(31;0.000385)				CATCCGACGCTCCCTGCAGTT	0.433000													Colon(62;485 1295 3347 17454)											0							SO:0001583	missense			ENST00000354891.3	0	1	hg19	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410940	0.25465	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.75367	-0.93;-0.93;-0.93	5.82	0.287	0.15714	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.296656	0.35495	N	0.003162	T	0.54303	0.1850	L	0.28115	0.83	0.09310	N	0.999999	B;B;B	0.21147	0.052;0.04;0.035	B;B;B	0.24006	0.029;0.05;0.026	T	0.33954	-0.9848	10	0.17369	T	0.5	-23.2083	6.6251	0.22824	0.3549:0.0:0.3772:0.2679	.	212;446;446	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	A	446;446;212;212	ENSP00000346964:S446A;ENSP00000313084:S446A;ENSP00000337607:S212A	ENSP00000313084:S446A	S	+	1	0	EGFLAM	38444950	0.028000	0.19301	0.001000	0.08648	0.960000	0.62799	1.548000	0.36201	-0.188000	0.10499	0.533000	0.62120	TCC		TCGA-IB-7651-01A-11D-2154-08	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	0	0	0	8	25	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.924917e-01	8	25	0	10	2								-17.612270	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.970000	1.000000	1.000000	0.996397	0.990000	1	9.900000e-01	1
EGFLAM	133584	broad.mit.edu	37	5	38427240	38427240	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38427240A>T	ENST00000354891.3	+	14	2286	c.1940A>T	c.(1939-1941)gAt>gTt	p.D647V	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D647V	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains			85	all_lung(31;0.000385)				GACTCAGGAGATGGTGTCCTC	0.542000													Colon(62;485 1295 3347 17454)											0							SO:0001583	missense			ENST00000354891.3	1	1	hg19	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327875	0.41197	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.81330	-0.6;-0.6;-0.6;-1.48	5.76	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.157123	0.56097	D	0.000040	D	0.89329	0.6684	M	0.90369	3.11	0.80722	D	1	P;P;D	0.61697	0.95;0.833;0.99	P;P;D	0.64776	0.687;0.635;0.929	D	0.89382	0.3682	10	0.87932	D	0	-6.9413	8.3171	0.32106	0.786:0.1424:0.0716:0.0	.	413;647;647	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	647;647;413;13;413	ENSP00000346964:D647V;ENSP00000313084:D647V;ENSP00000337607:D413V;ENSP00000380385:D13V	ENSP00000313084:D647V	D	+	2	0	EGFLAM	38462997	1.000000	0.71417	0.008000	0.14137	0.045000	0.14185	5.738000	0.68613	1.021000	0.39600	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	0	0	0	27	722	0	150	0	4.198832e-03	0	3	0	150	2		0	0	0	0	0	2	1	9.999999e-01	26	709	0	151	2								-19.999890	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.410000	0.280000	0.580000	0.420000	0.428830	0.410000	0	3.400000e-01	5.000000e-01
LIFR	3977	broad.mit.edu	37	5	38482250	38482250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38482250C>T	ENST00000263409.4	-	20	2903	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R914Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha			78	all_lung(31;0.00021)				AAATGCTGATCGAGTTTCCAG	0.388000			T	PLAG1	salivary adenoma								Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0							SO:0001583	missense			ENST00000263409.4	0	1	hg19	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908359	0.17833	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54866	0.55;0.55	6.06	3.18	0.36537	.	0.508601	0.18595	N	0.136622	T	0.22589	0.0545	N	0.13043	0.29	0.09310	N	1	B	0.31599	0.33	B	0.16722	0.016	T	0.06232	-1.0838	10	0.12103	T	0.63	-4.1353	0.7763	0.01033	0.1789:0.3905:0.174:0.2566	.	914	P42702	LIFR_HUMAN	Q	914	ENSP00000263409:R914Q;ENSP00000398368:R914Q	ENSP00000263409:R914Q	R	-	2	0	LIFR	38518007	0.001000	0.12720	0.001000	0.08648	0.427000	0.31564	0.036000	0.13819	0.795000	0.33922	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	0	0	0	13	511	0	96	0	1.006090e-01	0	20	0	96	2		0	0	0	0	0	2	1	9.995240e-01	11	510	0	96	2								-2.935610	1	1	121404	1	34	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.290000	0.160000	0.470000	0.290000	0.305187	0.290000	0	2.200000e-01	3.800000e-01
LIFR	3977	broad.mit.edu	37	5	38484883	38484883	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38484883C>T	ENST00000263409.4	-	18	2747	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha			78	all_lung(31;0.00021)				TTACCATTCTCGTTTCCGATA	0.363000			T	PLAG1	salivary adenoma								Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0							SO:0001583	missense			ENST00000263409.4	1	1	hg19	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384345	0.82792	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58797	0.31;0.31	5.78	4.91	0.64330	.	0.110075	0.64402	D	0.000012	T	0.74390	0.3710	M	0.69823	2.125	0.42200	D	0.991767	D	0.89917	1.0	D	0.80764	0.994	T	0.75196	-0.3403	10	0.38643	T	0.18	-13.1154	16.2544	0.82505	0.1338:0.8662:0.0:0.0	.	862	P42702	LIFR_HUMAN	Q	862	ENSP00000263409:R862Q;ENSP00000398368:R862Q	ENSP00000263409:R862Q	R	-	2	0	LIFR	38520640	1.000000	0.71417	0.995000	0.50966	0.791000	0.44710	5.359000	0.66074	1.428000	0.47296	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	1	18	105	0	33	1	9.432730e-01	9	22	0	33	2		0	0	0	0	0	2	1	9.999871e-01	18	103	0	33	2								-3.176451	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.998091	0.990000	1	9.900000e-01	1
LIFR	3977	broad.mit.edu	37	5	38493825	38493825	+	Missense_Mutation	SNP	C	C	T	rs143621762	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38493825C>T	ENST00000263409.4	-	14	2110	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	LIFR_ENST00000453190.2_Missense_Mutation_p.D650N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha			78	all_lung(31;0.00021)				ATGTTGGGGTCGTAATGCCAG	0.438000			T	PLAG1	salivary adenoma								Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0							SO:0001583	missense			ENST00000263409.4	1	1	hg19	CCDS3927.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.98	1.799137	0.31777	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.52983	0.64;0.64	5.68	1.86	0.25419	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (1);	0.469433	0.26203	N	0.025724	T	0.28466	0.0704	N	0.25426	0.745	0.09310	N	0.999994	B	0.17268	0.021	B	0.06405	0.002	T	0.11743	-1.0575	10	0.32370	T	0.25	-12.488	5.6181	0.17442	0.1376:0.5722:0.0:0.2902	.	650	P42702	LIFR_HUMAN	N	650	ENSP00000263409:D650N;ENSP00000398368:D650N	ENSP00000263409:D650N	D	-	1	0	LIFR	38529582	0.247000	0.23920	0.254000	0.24359	0.947000	0.59692	0.542000	0.23222	0.410000	0.25675	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	1	107	434	0	93	1	9.371546e-01	2	19	0	93	2		0	0	0	0	0	2	1	1	107	427	0	93	2								-3.414955	1	1	121412	3	36	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIFR	3977	broad.mit.edu	37	5	38496596	38496596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38496596C>A	ENST00000263409.4	-	13	1935	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha			78	all_lung(31;0.00021)				CTGCTTTGTGCTGAGGATCAG	0.408000			T	PLAG1	salivary adenoma								Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0							SO:0001583	missense			ENST00000263409.4	1	1	hg19	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	9.111	1.006685	0.19199	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54279	0.58;0.58	5.73	-8.16	0.01061	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.758030	0.13202	N	0.405909	T	0.23926	0.0579	N	0.12569	0.235	0.21416	N	0.999698	B	0.12630	0.006	B	0.09377	0.004	T	0.14783	-1.0460	10	0.28530	T	0.3	-18.9492	8.1536	0.31156	0.0973:0.5493:0.0992:0.2542	.	591	P42702	LIFR_HUMAN	H	591	ENSP00000263409:Q591H;ENSP00000398368:Q591H	ENSP00000263409:Q591H	Q	-	3	2	LIFR	38532353	0.010000	0.17322	0.953000	0.39169	0.524000	0.34500	-1.826000	0.01705	-0.804000	0.04410	-1.008000	0.02478	CAG		TCGA-IB-7651-01A-11D-2154-08	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	1	102	378	0	90	1	7.584332e-01	2	10	0	90	2		0	0	0	0	0	2	1	1	98	370	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIFR	3977	broad.mit.edu	37	5	38530694	38530694	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38530694C>T	ENST00000263409.4	-	2	218	c.56G>A	c.(55-57)aGa>aAa	p.R19K	LIFR_ENST00000453190.2_Missense_Mutation_p.R19K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha			78	all_lung(31;0.00021)				AGTCCTCATTCTTTTATTGTC	0.388000			T	PLAG1	salivary adenoma								Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0							SO:0001583	missense			ENST00000263409.4	1	1	hg19	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283089	0.59867	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990;ENST00000511561	T;T;T	0.55588	0.51;0.51;0.81	5.5	1.59	0.23543	.	0.827850	0.10502	N	0.667197	T	0.43366	0.1244	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45011	-0.9290	10	0.59425	D	0.04	-12.1776	1.854	0.03174	0.1684:0.4932:0.1629:0.1755	.	19	P42702	LIFR_HUMAN	K	19	ENSP00000263409:R19K;ENSP00000398368:R19K;ENSP00000426685:R19K	ENSP00000263409:R19K	R	-	2	0	LIFR	38566451	0.004000	0.15560	0.001000	0.08648	0.900000	0.52787	0.721000	0.25911	0.337000	0.23665	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	0	35	428	0	76	0	9.816328e-02	1	6	0	76	2		0	0	0	0	0	2	1	1	35	419	0	76	2								-3.142702	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.870000	0.620000	1.000000	1.000000	0.868057	0.870000	1	7.400000e-01	1
OSMR	9180	broad.mit.edu	37	5	38923316	38923316	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38923316T>A	ENST00000274276.3	+	13	2232	c.1830T>A	c.(1828-1830)gcT>gcA	p.A610A		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor			46	all_lung(31;0.000365)				AAAGGATTGCTTGTTTATTAG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000274276.3	1	1	hg19	CCDS3928.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	1	0	1	64	267	0	52	1	1	32	83	0	52	2		0	0	0	0	0	2	1	1	62	258	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSMR	9180	broad.mit.edu	37	5	38925342	38925342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38925342C>T	ENST00000274276.3	+	15	2483	c.2081C>T	c.(2080-2082)cCg>cTg	p.P694L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor			46	all_lung(31;0.000365)				ATTGACAACCCGGAAGAAAAG	0.358000																								0							SO:0001583	missense			ENST00000274276.3	1	1	hg19	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	3.503	-0.101350	0.06967	.	.	ENSG00000145623	ENST00000274276	T	0.53206	0.63	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.532999	0.21392	N	0.075284	T	0.61160	0.2325	L	0.56769	1.78	0.27464	N	0.953066	D	0.89917	1.0	P	0.62298	0.9	T	0.55023	-0.8205	10	0.18276	T	0.48	.	16.693	0.85327	0.0:1.0:0.0:0.0	.	694	Q99650	OSMR_HUMAN	L	694	ENSP00000274276:P694L	ENSP00000274276:P694L	P	+	2	0	OSMR	38961099	0.305000	0.24481	0.071000	0.20095	0.022000	0.10575	3.948000	0.56660	2.732000	0.93576	0.655000	0.94253	CCG		TCGA-IB-7651-01A-11D-2154-08	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	1	0	1	104	419	0	103	1	1	43	103	0	103	2		0	0	0	0	0	2	1	1	101	414	0	102	2								-2.580916	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSMR	9180	broad.mit.edu	37	5	38933354	38933354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38933354T>G	ENST00000274276.3	+	18	3150	c.2748T>G	c.(2746-2748)aaT>aaG	p.N916K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor			46	all_lung(31;0.000365)				CAAGTTTGAATTATGTGTCCC	0.443000																								0							SO:0001583	missense			ENST00000274276.3	1	1	hg19	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	7.063	0.566823	0.13560	.	.	ENSG00000145623	ENST00000274276	T	0.45668	0.89	5.85	4.69	0.59074	.	1.853720	0.02208	N	0.062901	T	0.41259	0.1151	L	0.56769	1.78	0.29781	N	0.833977	P	0.42456	0.78	B	0.40636	0.335	T	0.42732	-0.9434	10	0.02654	T	1	.	8.6037	0.33760	0.0:0.0864:0.0:0.9136	.	916	Q99650	OSMR_HUMAN	K	916	ENSP00000274276:N916K	ENSP00000274276:N916K	N	+	3	2	OSMR	38969111	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.483000	0.22292	1.034000	0.39945	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	1	0	1	100	448	0	95	1	1	32	150	0	95	2		0	0	0	0	0	2	1	1	97	435	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RICTOR	253260	broad.mit.edu	37	5	38942978	38942978	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38942978C>T	ENST00000357387.3	-	37	5039	c.5009G>A	c.(5008-5010)cGg>cAg	p.R1670Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2			75	all_lung(31;0.000396)				TATGAACCTCCGACACGGAAG	0.343000																								0							SO:0001583	missense			ENST00000357387.3	1	1	hg19	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	36	5.952747	0.97139	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.75477	-0.94;-0.87	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.86546	0.1831	10	0.87932	D	0	-9.7854	20.5141	0.99211	0.0:1.0:0.0:0.0	.	1670;1694	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1670;1694	ENSP00000349959:R1670Q;ENSP00000296782:R1694Q	ENSP00000296782:R1694Q	R	-	2	0	RICTOR	38978735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.428000	0.80296	2.850000	0.98022	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1	44	157	0	41	1	9.862884e-01	9	18	0	41	2		0	0	0	0	0	2	1	1	44	153	0	40	2								-3.512447	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RICTOR	253260	broad.mit.edu	37	5	38947536	38947536	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38947536T>G	ENST00000357387.3	-	32	4174	c.4144A>C	c.(4144-4146)Aaa>Caa	p.K1382Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2			75	all_lung(31;0.000396)				CTTAAGGCTTTCATGAACCTA	0.328000																								0							SO:0001583	missense			ENST00000357387.3	1	1	hg19	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355906	0.61293	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.55052	0.82;0.54	5.68	4.49	0.54785	.	0.141787	0.64402	D	0.000006	T	0.53674	0.1811	L	0.56769	1.78	0.51012	D	0.9999	P;P	0.47762	0.835;0.9	P;P	0.44990	0.466;0.466	T	0.57917	-0.7728	10	0.87932	D	0	-13.4672	12.8199	0.57688	0.0:0.0:0.1365:0.8635	.	1382;1406	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1382;1406	ENSP00000349959:K1382Q;ENSP00000296782:K1406Q	ENSP00000296782:K1406Q	K	-	1	0	RICTOR	38983293	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.814000	0.69208	0.940000	0.37473	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1	26	201	0	39	1	8.559641e-01	9	20	0	39	2		0	0	0	0	0	2	1	9.999999e-01	26	198	0	39	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.890000	1.000000	1.000000	0.993619	0.990000	1	9.900000e-01	1
RICTOR	253260	broad.mit.edu	37	5	38950004	38950004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950004C>T	ENST00000357387.3	-	31	3976	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2			75	all_lung(31;0.000396)				AAGTTACAATCTGCTAGACTT	0.418000																								0							SO:0001583	missense			ENST00000357387.3	1	1	hg19	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616596	0.87359	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.54866	0.65;0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.71527	-0.4566	10	0.87932	D	0	-20.5176	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1316;1316	Q6R327;Q6R327-3	RICTR_HUMAN;.	N	1316	ENSP00000349959:D1316N;ENSP00000296782:D1316N	ENSP00000296782:D1316N	D	-	1	0	RICTOR	38985761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.868000	0.98415	0.557000	0.71058	GAT		TCGA-IB-7651-01A-11D-2154-08	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1	58	325	0	108	1	8.645384e-01	2	20	0	108	2		0	0	0	0	0	2	1	1	58	319	0	108	2								-3.146281	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RICTOR	253260	broad.mit.edu	37	5	38950285	38950285	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950285G>A	ENST00000357387.3	-	31	3695	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I	RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2			75	all_lung(31;0.000396)				TGTAGTGTCTGTATTGAAACT	0.418000																								0							SO:0001583	missense			ENST00000357387.3	1	1	hg19	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034996	0.75617	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66460	0.41;-0.21	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82659	-0.0348	10	0.87932	D	0	-17.4192	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1222;1222	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	1222	ENSP00000349959:T1222I;ENSP00000296782:T1222I	ENSP00000296782:T1222I	T	-	2	0	RICTOR	38986042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.132000	0.94455	2.937000	0.99478	0.650000	0.86243	ACA		TCGA-IB-7651-01A-11D-2154-08	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1	236	957	0	216	1	9.953339e-01	10	25	0	216	2		0	0	0	0	0	2	1	1	234	941	0	216	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RICTOR	253260	broad.mit.edu	37	5	38953136	38953136	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38953136G>A	ENST00000357387.3	-	29	2878	c.2848C>T	c.(2848-2850)Cca>Tca	p.P950S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S|RICTOR_ENST00000503698.1_5'Flank	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2			75	all_lung(31;0.000396)				AGTATATCTGGAATCACGTTT	0.353000																								0							SO:0001583	missense			ENST00000357387.3	1	1	hg19	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961496	0.92791	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.68025	-0.3;-0.3	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.741;1.0	P;D	0.87578	0.554;0.998	T	0.79773	-0.1662	10	0.87932	D	0	-14.0935	19.8174	0.96576	0.0:0.0:1.0:0.0	.	950;950	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	950	ENSP00000349959:P950S;ENSP00000296782:P950S	ENSP00000296782:P950S	P	-	1	0	RICTOR	38988893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.233000	0.95337	2.757000	0.94681	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	1	0	1	47	371	0	100	1	9.535043e-01	6	36	0	100	2		0	0	0	0	0	2	1	1	46	365	0	99	2								-3.318794	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.970000	1.000000	1.000000	0.998065	0.990000	1	9.900000e-01	1
C9	735	broad.mit.edu	37	5	39341328	39341328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39341328A>C	ENST00000263408.4	-	4	491	c.396T>G	c.(394-396)gaT>gaG	p.D132E	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9			32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)		TTTCACAATCATCCTCATCTG	0.478000																								0							SO:0001583	missense			ENST00000263408.4	1	1	hg19	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.382830	0.42207	.	.	ENSG00000113600	ENST00000263408	D	0.94966	-3.57	5.52	-2.54	0.06307	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.403256	0.29172	N	0.012922	D	0.85026	0.5603	N	0.04162	-0.26	0.09310	N	1	D	0.53619	0.961	P	0.50970	0.655	T	0.82456	-0.0448	10	0.15952	T	0.53	-22.6294	5.9416	0.19196	0.4123:0.2496:0.3381:0.0	.	132	P02748	CO9_HUMAN	E	132	ENSP00000263408:D132E	ENSP00000263408:D132E	D	-	3	2	C9	39377085	0.028000	0.19301	0.111000	0.21465	0.828000	0.46876	0.049000	0.14099	-0.180000	0.10637	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3	1	0	0	45	515	0	103	0	6.808763e-03	0	2	0	103	2		0	0	0	0	0	2	1	1	43	497	0	102	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.920000	0.690000	1.000000	1.000000	0.910395	0.920000	1	8.000000e-01	1
DAB2	1601	broad.mit.edu	37	5	39381710	39381710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39381710G>A	ENST00000320816.6	-	11	1817	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	DAB2_ENST00000545653.1_Silent_p.A429A|DAB2_ENST00000509337.1_Silent_p.A429A|DAB2_ENST00000339788.6_Silent_p.A232A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)			47	all_lung(31;0.000197)		Epithelial(62;0.137)		GCAAGTCATTGGCTGAAGACT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000320816.6	1	1	hg19	CCDS34149.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	1	0	1	66	266	0	86	1	1	8	198	0	86	2		0	0	0	0	0	2	1	1	65	257	0	86	2								-3.443744	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAB2	1601	broad.mit.edu	37	5	39382969	39382969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39382969C>T	ENST00000320816.6	-	10	1559	c.1092G>A	c.(1090-1092)tgG>tgA	p.W364*	DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000339788.6_Intron	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)			47	all_lung(31;0.000197)		Epithelial(62;0.137)		TTGAAAAGGGCCATGGGCCTG	0.502000																								0							SO:0001587	stop_gained			ENST00000320816.6	0	1	hg19	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	37	6.162273	0.97338	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	.	.	.	5.73	5.73	0.89815	.	0.075986	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4116	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	364;343;343	.	ENSP00000313391:W364X	W	-	3	0	DAB2	39418726	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	1	0	1	50	261	0	66	1	1	2	212	0	66	2		0	0	0	0	0	2	1	1	49	256	0	66	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39383090G>A	ENST00000320816.6	-	10	1438	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Missense_Mutation_p.S303L|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000339788.6_Intron	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	p.S324*(1)		47	all_lung(31;0.000197)		Epithelial(62;0.137)		CGAGCTACTCGAATTCTCTTT	0.468000																								1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000320816.6	1	1	hg19	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	6.467	0.454341	0.12283	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.34275	1.41;1.37;1.37	5.73	-0.829	0.10796	.	0.998658	0.08105	N	0.997037	T	0.12092	0.0294	N	0.00677	-1.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.26408	T	0.33	-0.1136	11.3431	0.49543	0.6031:0.0:0.3969:0.0	.	324;303	P98082;P98082-3	DAB2_HUMAN;.	L	324;303;303	ENSP00000313391:S324L;ENSP00000439919:S303L;ENSP00000426245:S303L	ENSP00000313391:S324L	S	-	2	0	DAB2	39418847	0.972000	0.33761	0.997000	0.53966	0.662000	0.39071	0.570000	0.23653	-0.060000	0.13132	-1.004000	0.02495	TCG		TCGA-IB-7651-01A-11D-2154-08	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	0	0	0	23	522	0	126	0	9.987195e-01	0	238	0	126	2		0	0	0	0	0	2	1	9.999993e-01	22	516	0	124	2								-4.056383	1	1	121412	1	29	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.490000	0.310000	0.700000	0.490000	0.503291	0.490000	0	3.900000e-01	6.000000e-01
PTGER4	5734	broad.mit.edu	37	5	40681899	40681899	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40681899C>A	ENST00000302472.3	+	2	1828	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)			23				Dinoprostone(DB00917)|Misoprostol(DB00929)	GCGCCGAGATCCAGATGGTCA	0.687000																								0							SO:0001819	synonymous_variant			ENST00000302472.3	1	1	hg19	CCDS3930.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	1	0	1	56	239	0	44	1	9.962007e-01	8	31	0	44	2		0	0	0	0	0	2	1	1	56	238	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC33	23548	broad.mit.edu	37	5	40716255	40716255	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40716255C>A	ENST00000337702.4	-	5	933	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33			11					CTTCATCGGGCTTTGATAAAA	0.393000																								0							SO:0001583	missense			ENST00000337702.4	0	1	hg19	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808046	0.90707	.	.	ENSG00000113638	ENST00000337702	T	0.41065	1.01	5.34	5.34	0.76211	.	0.095158	0.64402	D	0.000001	T	0.62998	0.2474	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.65865	-0.6064	10	0.87932	D	0	-12.367	19.0383	0.92987	0.0:1.0:0.0:0.0	.	261	Q6PID6	TTC33_HUMAN	S	261	ENSP00000338533:A261S	ENSP00000338533:A261S	A	-	1	0	TTC33	40752012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.270000	0.72563	2.486000	0.83907	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	0	0	0	5	157	0	34	0	6.416589e-01	1	64	0	34	2		0	0	0	0	0	2	1	9.364811e-01	5	155	0	34	2								-7.436516	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.380000	0.140000	0.750000	0.340000	0.409654	0.380000	0	2.400000e-01	5.600000e-01
PRKAA1	5562	broad.mit.edu	37	5	40769539	40769539	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40769539G>A	ENST00000397128.2	-	5	583	c.575C>T	c.(574-576)gCa>gTa	p.A192V	PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V|PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit			1				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TACTTCTGGTGCAGCATAGTT	0.368000																								0							SO:0001583	missense			ENST00000397128.2	1	1	hg19	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785121	0.90282	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	T;T;T	0.53423	0.62;0.62;0.62	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	H	0.99182	4.46	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.64144	0.922;0.919	D	0.89003	0.3423	10	0.87932	D	0	-19.9302	20.8794	0.99867	0.0:0.0:1.0:0.0	.	192;207	Q13131;Q13131-2	AAPK1_HUMAN;.	V	192;207;183	ENSP00000380317:A192V;ENSP00000346148:A207V;ENSP00000296800:A183V	ENSP00000296800:A183V	A	-	2	0	AC008810.1	40805296	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	1	0	0	18	468	0	118	1	9.962242e-01	6	228	0	118	2		0	0	0	0	0	2	1	9.999769e-01	17	454	0	114	2								-3.420450	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.430000	0.260000	0.640000	0.420000	0.446075	0.430000	0	3.400000e-01	5.400000e-01
C7	730	broad.mit.edu	37	5	40947834	40947834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40947834G>A	ENST00000313164.9	+	8	1228	c.869G>A	c.(868-870)aGt>aAt	p.S290N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7					Ovarian(839;0.0112)			TATGACTACAGTGCCTACCGA	0.428000																								0							SO:0001583	missense			ENST00000313164.9	1	1	hg19	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096169	0.56075	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.83755	-1.76	5.9	5.04	0.67666	Membrane attack complex component/perforin (MACPF) domain (3);	0.264931	0.45126	D	0.000385	T	0.79167	0.4400	L	0.58101	1.795	0.39187	D	0.962896	B	0.20550	0.046	B	0.22601	0.04	T	0.75803	-0.3189	10	0.37606	T	0.19	-12.6631	10.4816	0.44698	0.1479:0.0:0.8521:0.0	.	290	P10643	CO7_HUMAN	N	290	ENSP00000322061:S290N	ENSP00000322061:S290N	S	+	2	0	C7	40983591	0.006000	0.16342	1.000000	0.80357	0.886000	0.51366	0.308000	0.19314	1.502000	0.48669	-0.142000	0.14014	AGT		TCGA-IB-7651-01A-11D-2154-08	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1	1	0	1	51	207	0	55	0	1	0	115	0	55	2		0	0	0	0	0	2	1	1	49	202	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6	729	broad.mit.edu	37	5	41149377	41149377	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149377G>T	ENST00000263413.3	-	17	2853	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	C6_ENST00000337836.5_Silent_p.G863G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6			96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)			AGGTGTCATAGCCACAGGATT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000263413.3	1	1	hg19	CCDS3936.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	1	203	1055	0	219	0	9.984488e-01	0	50	0	219	2		0	0	0	0	0	2	1	1	198	1039	0	218	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6	729	broad.mit.edu	37	5	41149447	41149447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149447C>T	ENST00000263413.3	-	17	2783	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_ENST00000337836.5_Missense_Mutation_p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6			96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)			TAACTGGCGGCCGTCTTGGCA	0.418000																								0							SO:0001583	missense			ENST00000263413.3	1	1	hg19	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	2.405	-0.336634	0.05278	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60299	0.2;0.2	5.85	5.85	0.93711	.	0.306075	0.37053	N	0.002274	T	0.32041	0.0816	N	0.14661	0.345	0.24034	N	0.996103	B	0.16396	0.017	B	0.12837	0.008	T	0.31943	-0.9925	10	0.07030	T	0.85	-20.1278	5.7292	0.18030	0.0:0.6574:0.1663:0.1763	.	840	P13671	CO6_HUMAN	D	840	ENSP00000338861:G840D;ENSP00000263413:G840D	ENSP00000263413:G840D	G	-	2	0	C6	41185204	0.006000	0.16342	0.839000	0.33178	0.196000	0.23810	1.784000	0.38674	2.768000	0.95171	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	1	154	798	0	170	0	9.984346e-01	0	50	0	170	2		0	0	0	0	0	2	1	1	152	782	0	166	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6	729	broad.mit.edu	37	5	41160256	41160256	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41160256C>A	ENST00000263413.3	-	11	1936	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Missense_Mutation_p.D558Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6			96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)			GATTTATAATCTGGAGACTGT	0.418000																								0							SO:0001583	missense			ENST00000263413.3	1	1	hg19	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751077	0.69533	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.62639	0.01;0.01	6.06	6.06	0.98353	.	1.329030	0.04512	N	0.382988	D	0.83566	0.5282	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.71902	-0.4452	10	0.72032	D	0.01	-18.6999	20.6208	0.99490	0.0:1.0:0.0:0.0	.	558	P13671	CO6_HUMAN	Y	558	ENSP00000338861:D558Y;ENSP00000263413:D558Y	ENSP00000263413:D558Y	D	-	1	0	C6	41196013	1.000000	0.71417	0.489000	0.27452	0.316000	0.28119	7.459000	0.80802	2.882000	0.98803	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	1	83	306	0	72	0	9.999128e-01	1	52	0	72	2		0	0	0	0	0	2	1	1	83	300	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6	729	broad.mit.edu	37	5	41176658	41176658	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41176658T>C	ENST00000263413.3	-	8	1351	c.1087A>G	c.(1087-1089)Act>Gct	p.T363A	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.T363A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6			96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)			AAGTAATGAGTCCCAAAGTCA	0.433000																								0							SO:0001583	missense			ENST00000263413.3	0	1	hg19	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714979	0.89112	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.96774	-4.12;-4.12	5.55	5.55	0.83447	Membrane attack complex component/perforin domain, conserved site (1);Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99705	1.1005	10	0.87932	D	0	-19.9222	15.8689	0.79091	0.0:0.0:0.0:1.0	.	363	P13671	CO6_HUMAN	A	363	ENSP00000338861:T363A;ENSP00000263413:T363A	ENSP00000263413:T363A	T	-	1	0	C6	41212415	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.224000	0.78042	2.333000	0.79357	0.482000	0.46254	ACT		TCGA-IB-7651-01A-11D-2154-08	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	0	0	0	9	422	0	72	0	1.551117e-01	0	30	0	72	2		0	0	0	0	0	2	1	9.938188e-01	9	415	0	70	2								-3.153781	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.240000	0.120000	0.430000	0.240000	0.264222	0.240000	0	1.700000e-01	3.400000e-01
C6	729	broad.mit.edu	37	5	41186182	41186182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41186182A>C	ENST00000263413.3	-	6	980	c.716T>G	c.(715-717)gTc>gGc	p.V239G	C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.V239G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6			96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)			CTCAAAGCCGACATTTTCCAG	0.423000																								0							SO:0001583	missense			ENST00000263413.3	1	1	hg19	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873182	0.72180	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61392	0.11;0.11	5.99	5.99	0.97316	Membrane attack complex component/perforin (MACPF) domain (1);	0.218031	0.46758	D	0.000268	T	0.64951	0.2645	M	0.72479	2.2	0.80722	D	1	D	0.58970	0.984	P	0.47470	0.548	T	0.69049	-0.5248	10	0.54805	T	0.06	-16.1571	16.4943	0.84223	1.0:0.0:0.0:0.0	.	239	P13671	CO6_HUMAN	G	239	ENSP00000338861:V239G;ENSP00000263413:V239G	ENSP00000263413:V239G	V	-	2	0	C6	41221939	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	7.357000	0.79456	2.291000	0.77112	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	1	37	171	0	43	0	9.781636e-01	0	31	0	43	2		0	0	0	0	0	2	1	1	37	171	0	42	2								-19.986390	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
C6	729	broad.mit.edu	37	5	41203349	41203349	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41203349G>T	ENST00000263413.3	-	0	248				C6_ENST00000337836.5_De_novo_Start_OutOfFrame	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6			96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)			AGAGCCTCCAGGCCCTAAAAT	0.423000																								0											ENST00000263413.3	0	1	hg19	CCDS3936.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	0	0	0	34	327	1	93	0	4.620468e-01	0	16	1	93	2		0	0	0	0	0	2	1	9.991069e-01	33	323	1	92	14								-3.221884	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.770000	1.000000	1.000000	0.970578	0.990000	1	9.100000e-01	1
OXCT1	5019	broad.mit.edu	37	5	41805740	41805740	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41805740G>A	ENST00000196371.5	-	9	1044	c.884C>T	c.(883-885)gCt>gTt	p.A295V	OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1			28				Succinic acid(DB00139)	TCCAGGTTTAGCAGATTTGGC	0.423000																								0							SO:0001583	missense			ENST00000196371.5	1	1	hg19	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	G	8.016	0.758665	0.15846	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.79141	-1.24;-1.24	5.22	-5.59	0.02505	.	0.837146	0.11006	N	0.609933	T	0.51295	0.1666	N	0.13168	0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.27082	T	0.32	0.5894	4.0039	0.09592	0.094:0.1396:0.425:0.3415	.	295	P55809	SCOT1_HUMAN	V	295;109	ENSP00000196371:A295V;ENSP00000425348:A109V	ENSP00000196371:A295V	A	-	2	0	OXCT1	41841497	0.055000	0.20627	0.000000	0.03702	0.256000	0.26092	-0.005000	0.12855	-0.846000	0.04174	-0.219000	0.12488	GCT		TCGA-IB-7651-01A-11D-2154-08	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	1	0	1	84	343	0	84	1	9.999979e-01	17	62	0	84	2		0	0	0	0	0	2	1	1	82	332	0	84	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C5orf51	285636	broad.mit.edu	37	5	41912217	41912217	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41912217G>A	ENST00000381647.2	+	5	552	c.533G>A	c.(532-534)cGa>cAa	p.R178Q		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51			11					CTAAATTATCGATGTCCTATC	0.328000																								0							SO:0001583	missense			ENST00000381647.2	1	1	hg19	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522614	0.96431	0.0	1.16E-4	ENSG00000205765	ENST00000381647	D	0.82526	-1.62	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.34521	1.04	0.54753	D	0.99998	D	0.89917	1.0	D	0.85130	0.997	D	0.88372	0.2995	10	0.87932	D	0	-18.7221	18.3385	0.90297	0.0:0.0:1.0:0.0	.	178	A6NDU8	CE051_HUMAN	Q	178	ENSP00000371061:R178Q	ENSP00000371061:R178Q	R	+	2	0	C5orf51	41947974	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	7.713000	0.84693	2.767000	0.95098	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	1	0	1	104	499	0	143	0	9.996723e-01	1	57	0	143	2		0	0	0	0	0	2	1	1	103	490	0	142	2								-20.000000	1	1	121406	2	39	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO4	26272	broad.mit.edu	37	5	41939678	41939678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41939678C>T	ENST00000281623.3	+	6	1090	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4			27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)			TTTTATTTGGCTCATGAGCTG	0.368000																								0							SO:0001583	missense			ENST00000281623.3	0	1	hg19	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.738338	0.89573	.	.	ENSG00000151876	ENST00000281623	T	0.57907	0.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.69420	-0.5150	10	0.66056	D	0.02	-10.8369	19.4929	0.95059	0.0:1.0:0.0:0.0	.	345	Q9UKT5	FBX4_HUMAN	V	345	ENSP00000281623:A345V	ENSP00000281623:A345V	A	+	2	0	FBXO4	41975435	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.949000	0.70257	2.689000	0.91719	0.556000	0.70494	GCT		TCGA-IB-7651-01A-11D-2154-08	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1	0	0	0	9	412	0	58	1	4.357249e-01	3	61	0	58	2		0	0	0	0	0	2	1	9.936731e-01	9	402	0	58	2								-2.863776	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.250000	0.120000	0.440000	0.250000	0.270388	0.250000	0	1.800000e-01	3.500000e-01
GHR	2690	broad.mit.edu	37	5	42695175	42695175	+	Missense_Mutation	SNP	C	C	A	rs45501892		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42695175C>A	ENST00000230882.4	+	5	613	c.423C>A	c.(421-423)ttC>ttA	p.F141L	GHR_ENST00000357703.3_Missense_Mutation_p.F119L|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor			39		Myeloproliferative disorder(839;0.00878)		Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGTTTCTCTGTTGATG	0.358000																								0							SO:0001583	missense			ENST00000230882.4	1	1	hg19	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087062	0.76642	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.95918	-3.85;-3.85	5.14	5.14	0.70334	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97520	0.9188	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97849	1.0273	10	0.62326	D	0.03	-12.8885	15.3502	0.74376	0.0:0.8601:0.1399:0.0	.	141	P10912	GHR_HUMAN	L	141;119;141	ENSP00000230882:F141L;ENSP00000350335:F119L	ENSP00000230882:F141L	F	+	3	2	GHR	42730932	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.603000	0.54074	2.537000	0.85549	0.585000	0.79938	TTC		TCGA-IB-7651-01A-11D-2154-08	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	1	0	1	33	145	0	46	0	7.250689e-01	0	13	0	46	2		0	0	0	0	0	2	1	1	32	141	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
GHR	2690	broad.mit.edu	37	5	42699999	42699999	+	Silent	SNP	C	C	T	rs45477803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42699999C>T	ENST00000230882.4	+	6	703	c.513C>T	c.(511-513)atC>atT	p.I171I	GHR_ENST00000357703.3_Silent_p.I149I|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor			39		Myeloproliferative disorder(839;0.00878)		Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGCAGATATCCAAGTGAGAT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000230882.4	1	1	hg19	CCDS3940.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	1	0	1	52	259	0	73	0	6.233269e-01	1	11	0	73	2		0	0	0	0	0	2	1	1	52	255	0	73	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHRR	57491	broad.mit.edu	37	5	427974	427974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:427974C>T	ENST00000505113.1	+	8	817	c.773C>T	c.(772-774)gCg>gTg	p.A258V	AHRR_ENST00000316418.5_Missense_Mutation_p.A276V|AHRR_ENST00000512529.1_Missense_Mutation_p.A104V|AHRR_ENST00000506456.1_Missense_Mutation_p.A114V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor			20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		AAGAAGAAGGCGCCGTCAGGA	0.562000																								0							SO:0001583	missense			ENST00000505113.1	1	1	hg19	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	c	16.60	3.168850	0.57584	2.67E-4	0.0	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.23950	2.2;2.2;1.88;1.88	4.88	4.88	0.63580	.	0.471757	0.24341	N	0.039375	T	0.40694	0.1127	M	0.64170	1.965	0.29623	N	0.846065	D;B;P	0.64830	0.994;0.443;0.884	P;B;B	0.53649	0.731;0.085;0.165	T	0.40079	-0.9582	10	0.59425	D	0.04	.	15.5229	0.75877	0.0:1.0:0.0:0.0	.	114;258;276	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	258;276;104;114	ENSP00000424601:A258V;ENSP00000323816:A276V;ENSP00000424880:A104V;ENSP00000426932:A114V	ENSP00000323816:A276V	A	+	2	0	AHRR	480974	1.000000	0.71417	0.790000	0.31976	0.452000	0.32318	5.258000	0.65479	2.244000	0.73946	0.580000	0.79431	GCG		TCGA-IB-7651-01A-11D-2154-08	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	1	0	1	51	230	0	44	0	1.575144e-01	0	4	0	44	2		0	0	0	0	0	2	1	1	50	225	0	44	2								-20.000000	1	1	120808	8	37	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEPP1	6414	broad.mit.edu	37	5	42808439	42808439	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42808439C>T	ENST00000514985.1	-	2	273	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1			15					CAGGGCAAGCCCCAGGCTTCT	0.478000																								0							SO:0001583	missense			ENST00000514985.1	1	1	hg19	CCDS43311.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803324	0.70682	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	T;T;T;T;T	0.51574	2.15;2.15;2.15;1.59;0.7	5.29	4.43	0.53597	.	0.149429	0.30428	U	0.009652	T	0.51584	0.1683	L	0.57536	1.79	0.29780	N	0.834089	.	.	.	.	.	.	T	0.55964	-0.8057	8	0.59425	D	0.04	.	9.392	0.38378	0.0:0.7799:0.1435:0.0766	.	.	.	.	E	6	ENSP00000420939:G6E;ENSP00000427671:G6E;ENSP00000425915:G6E;ENSP00000421626:G6E;ENSP00000427414:G6E	ENSP00000425915:G6E	G	-	2	0	SEPP1	42844196	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	2.911000	0.48774	1.221000	0.43506	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000367483.1	0	0	0	24	102	0	24	1	1	94	1003	0	24	2		0	0	0	0	0	2	1	9.999999e-01	24	101	0	24	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
ZNF131	7690	broad.mit.edu	37	5	43161449	43161449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161449C>T	ENST00000399534.1	+	5	514	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.S157L|ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L			P52739	ZN131_HUMAN	zinc finger protein 131			17					ATCACTGAGTCATTGCCATCT	0.408000																								0							SO:0001583	missense			ENST00000399534.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.64	3.439856	0.63067	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.18	5.18	0.71444	.	0.131313	0.52532	D	0.000067	T	0.63343	0.2503	N	0.19112	0.55	0.53005	D	0.999969	B;P	0.36909	0.278;0.573	B;B	0.36666	0.057;0.23	T	0.62964	-0.6742	10	0.30078	T	0.28	-6.1519	18.6914	0.91585	0.0:1.0:0.0:0.0	.	157;157	P52739;P52739-2	ZN131_HUMAN;.	L	157	ENSP00000422079:S157L;ENSP00000426504:S157L;ENSP00000305804:S157L;ENSP00000382450:S157L;ENSP00000423945:S157L;ENSP00000421246:S157L	ENSP00000305804:S157L	S	+	2	0	ZNF131	43197206	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.592000	0.67543	2.429000	0.82318	0.650000	0.86243	TCA		TCGA-IB-7651-01A-11D-2154-08	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	1	0	1	92	370	0	92	1	9.999932e-01	15	56	0	92	2		0	0	0	0	0	2	1	1	89	360	0	92	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF131	7690	broad.mit.edu	37	5	43161521	43161521	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161521A>G	ENST00000399534.1	+	5	586	c.542A>G	c.(541-543)gAt>gGt	p.D181G	ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.D181G|ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G|ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G			P52739	ZN131_HUMAN	zinc finger protein 131			17					GAAGTGGAAGATGAAGGCATC	0.448000																								0							SO:0001583	missense			ENST00000399534.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.39	2.222358	0.39300	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.42	4.27	0.50696	.	0.154858	0.56097	N	0.000029	T	0.53610	0.1807	N	0.14661	0.345	0.44871	D	0.997882	P;B	0.43094	0.799;0.004	B;B	0.35413	0.202;0.006	T	0.54022	-0.8355	10	0.39692	T	0.17	-16.9118	10.9487	0.47317	0.9268:0.0:0.0732:0.0	.	181;181	P52739;P52739-2	ZN131_HUMAN;.	G	181	ENSP00000422079:D181G;ENSP00000426504:D181G;ENSP00000305804:D181G;ENSP00000382450:D181G;ENSP00000423945:D181G;ENSP00000421246:D181G	ENSP00000305804:D181G	D	+	2	0	ZNF131	43197278	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.655000	0.67981	0.908000	0.36671	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	1	0	1	73	310	0	88	1	9.998124e-01	12	44	0	88	2		0	0	0	0	0	2	1	1	70	305	0	87	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHRR	57491	broad.mit.edu	37	5	434085	434085	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:434085T>C	ENST00000505113.1	+	11	1286	c.1242T>C	c.(1240-1242)gaT>gaC	p.D414D	AHRR_ENST00000316418.5_Silent_p.D432D|AHRR_ENST00000512529.1_Silent_p.D260D|AHRR_ENST00000506456.1_Silent_p.D270D	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor			20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		ACAGTGAGGATGGTGCCAGGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000505113.1	1	1	hg19	CCDS56355.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	1	0	1	38	165	0	30	0	0	0	1	0	30	2		0	0	0	0	0	2	1	1	38	161	0	30	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
C5orf28	64417	broad.mit.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	p.R162C(2)		9	Lung NSC(6;2.07e-05)				AAACCATGACGAATCCCATCT	0.388000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000500337.2	1	1	hg19	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396156	0.96009	.	.	ENSG00000151881	ENST00000500337;ENST00000537319;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	5.95	0.96441	.	0.044157	0.85682	D	0.000000	D	0.85869	0.5797	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87265	0.2282	9	0.87932	D	0	-16.6988	20.3697	0.98890	0.0:0.0:1.0:0.0	.	162	Q0VDI3	CE028_HUMAN	C	162;31;162;162;60;162	.	ENSP00000380270:R162C	R	-	1	0	C5orf28	43482245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.811000	0.96726	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	1	0	1	63	380	0	110	1	9.993955e-01	20	48	0	110	2		0	0	0	0	0	2	1	1	63	375	0	109	2								-3.319196	1	1	121412	1	35	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PAIP1	10605	broad.mit.edu	37	5	43533874	43533874	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43533874T>C	ENST00000306846.3	-	9	1450	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAIP1_ENST00000436644.2_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000514514.1_Silent_p.T327T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1			24	Lung NSC(6;2.07e-05)				CACCATCAGATGTATAAAATG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000306846.3	1	1	hg19	CCDS3947.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	1	0	1	97	450	0	113	1	1	64	137	0	113	2		0	0	0	0	0	2	1	1	95	439	0	113	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NNT	23530	broad.mit.edu	37	5	43609350	43609350	+	Missense_Mutation	SNP	G	G	A	rs12653648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43609350G>A	ENST00000264663.5	+	2	274	c.53G>A	c.(52-54)aGc>aAc	p.S18N	NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Missense_Mutation_p.S18N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase			51	Lung NSC(6;2.58e-06)				CCTCTACTTAGCAATTTGGGG	0.438000																								0							SO:0001583	missense			ENST00000264663.5	1	1	hg19	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018041	0.35606	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	D;D;D;D	0.95788	-1.82;-1.83;-3.81;-3.81	5.72	2.2	0.27929	.	0.357997	0.37261	N	0.002169	D	0.88507	0.6455	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79857	-0.1626	10	0.33940	T	0.23	-6.4642	5.563	0.17154	0.1469:0.106:0.6264:0.1207	rs12653648	18	Q13423	NNTM_HUMAN	N	18	ENSP00000427670:S18N;ENSP00000421886:S18N;ENSP00000264663:S18N;ENSP00000343873:S18N	ENSP00000264663:S18N	S	+	2	0	NNT	43645107	0.997000	0.39634	0.916000	0.36221	0.503000	0.33858	0.857000	0.27831	0.593000	0.29745	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	1	36	249	0	56	1	9.896394e-01	5	47	0	56	2		0	0	0	0	0	2	1	1	36	243	0	55	2								-15.995980	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999262	0.990000	1	9.900000e-01	1
NNT	23530	broad.mit.edu	37	5	43651986	43651986	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43651986G>T	ENST00000264663.5	+	13	2084	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	NNT_ENST00000512996.2_Splice_Site_p.Q490H|NNT_ENST00000344920.4_Splice_Site_p.Q621H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase			51	Lung NSC(6;2.58e-06)				ACATTGAACAGGTAAGATGCT	0.383000																								0							SO:0001630	splice_region_variant			ENST00000264663.5	1	0	hg19	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716944	0.68844	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91843	-2.92;-2.92;-2.92	5.64	2.03	0.26663	.	0.049448	0.85682	D	0.000000	D	0.94272	0.8160	M	0.82630	2.6	0.80722	D	1	P	0.37441	0.595	P	0.53360	0.724	D	0.92446	0.5966	10	0.59425	D	0.04	-7.8661	7.8211	0.29288	0.4948:0.0:0.5052:0.0	.	621	Q13423	NNTM_HUMAN	H	136;621;621;490	ENSP00000264663:Q621H;ENSP00000343873:Q621H;ENSP00000426343:Q490H	ENSP00000264663:Q621H	Q	+	3	2	NNT	43687743	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.093000	0.50217	0.436000	0.26393	-0.302000	0.09304	CAG		TCGA-IB-7651-01A-11D-2154-08	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	1	124	614	0	124	1	9.992522e-01	5	49	0	124	2		0	0	0	0	0	2	1	1	120	609	0	123	2								-2.696824	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NNT	23530	broad.mit.edu	37	5	43659279	43659279	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43659279A>T	ENST00000264663.5	+	17	2682	c.2461A>T	c.(2461-2463)Act>Tct	p.T821S	NNT_ENST00000512996.2_Missense_Mutation_p.T690S|NNT_ENST00000344920.4_Missense_Mutation_p.T821S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase			51	Lung NSC(6;2.58e-06)				CTAGGGTGTGACTTTGACAGC	0.423000																								0							SO:0001583	missense			ENST00000264663.5	1	1	hg19	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469504	0.63625	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91407	-2.84;-2.84;-2.84	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.90019	3.08	0.80722	D	1	P	0.51449	0.945	P	0.51582	0.674	D	0.92962	0.6390	10	0.10902	T	0.67	-26.4641	16.3742	0.83379	1.0:0.0:0.0:0.0	.	821	Q13423	NNTM_HUMAN	S	336;821;821;690	ENSP00000264663:T821S;ENSP00000343873:T821S;ENSP00000426343:T690S	ENSP00000264663:T821S	T	+	1	0	NNT	43695036	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.962000	0.93254	2.263000	0.75096	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	1	137	620	0	155	1	9.995811e-01	6	47	0	155	2		0	0	0	0	0	2	1	1	131	609	0	154	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NNT	23530	broad.mit.edu	37	5	43702773	43702773	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43702773G>T	ENST00000264663.5	+	21	3267	c.3046G>T	c.(3046-3048)Gct>Tct	p.A1016S	NNT_ENST00000512996.2_Missense_Mutation_p.A885S|NNT_ENST00000344920.4_Missense_Mutation_p.A1016S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase			51	Lung NSC(6;2.58e-06)				TAATTCAGCAGCTCAAGAAGA	0.343000																								0							SO:0001583	missense			ENST00000264663.5	1	1	hg19	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922149	0.92319	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95171	-3.63;-3.63;-3.63	5.95	5.95	0.96441	.	0.153952	0.56097	D	0.000025	D	0.97645	0.9228	M	0.90705	3.14	0.80722	D	1	B	0.32350	0.366	P	0.51229	0.663	D	0.96975	0.9711	10	0.72032	D	0.01	-17.2498	20.0036	0.97427	0.0:0.0:1.0:0.0	.	1016	Q13423	NNTM_HUMAN	S	531;1016;1016;885	ENSP00000264663:A1016S;ENSP00000343873:A1016S;ENSP00000426343:A885S	ENSP00000264663:A1016S	A	+	1	0	NNT	43738530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.824000	0.97209	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	1	0	1	35	203	0	46	1	9.999505e-01	16	75	0	46	2		0	0	0	0	0	2	1	1	35	199	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999919	0.990000	1	9.900000e-01	1
EXOC3	11336	broad.mit.edu	37	5	446344	446344	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:446344C>T	ENST00000512944.1	+	2	213	c.24C>T	c.(22-24)gcC>gcT	p.A8A	EXOC3_ENST00000510441.1_3'UTR|EXOC3_ENST00000315013.5_Silent_p.A8A	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3			23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		ACCGGGAGGCCGTTGCGACAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000512944.1	1	1	hg19	CCDS54830.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	1	0	1	44	324	0	76	1	9.990473e-01	27	52	0	76	2		0	0	0	0	0	2	1	1	44	317	0	76	2								-3.075767	1	1	120942	7	39	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999148	0.990000	1	9.900000e-01	1
MRPS30	10884	broad.mit.edu	37	5	44812023	44812023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:44812023C>T	ENST00000507110.1	+	3	792	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30			20	Lung NSC(6;8.08e-07)				TAAGTTTGTGCCATTGGATTA	0.303000																								0							SO:0001583	missense			ENST00000507110.1	1	1	hg19	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386818	0.42308	.	.	ENSG00000112996	ENST00000507110	T	0.16196	2.36	5.46	4.54	0.55810	.	0.273592	0.42294	D	0.000728	T	0.35740	0.0942	M	0.62016	1.91	0.48901	D	0.999723	D	0.89917	1.0	D	0.72075	0.976	T	0.01956	-1.1240	10	0.24483	T	0.36	-8.3727	14.0727	0.64870	0.0:0.8497:0.1503:0.0	.	252	Q9NP92	RT30_HUMAN	S	252	ENSP00000424328:P252S	ENSP00000424328:P252S	P	+	1	0	MRPS30	44847780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.298000	0.51818	2.550000	0.86006	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	1	0	1	45	178	0	93	1	9.999999e-01	15	87	0	93	2		0	0	0	0	0	2	1	1	45	175	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HCN1	348980	broad.mit.edu	37	5	45262687	45262687	+	Missense_Mutation	SNP	G	G	A	rs142280884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262687G>A	ENST00000303230.4	-	8	2066	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1			156					CAGGCTGGTCGCTGTGTACAC	0.587000																								0							SO:0001583	missense			ENST00000303230.4	1	1	hg19	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534289	0.27475	2.27E-4	2.33E-4	ENSG00000164588	ENST00000303230	D	0.97620	-4.46	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000010	D	0.93432	0.7905	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	D	0.85769	0.1354	10	0.46703	T	0.11	.	10.5844	0.45273	0.0731:0.1347:0.7923:0.0	.	670	O60741	HCN1_HUMAN	V	670	ENSP00000307342:A670V	ENSP00000307342:A670V	A	-	2	0	HCN1	45298444	0.019000	0.18553	0.244000	0.24202	0.967000	0.64934	1.899000	0.39818	2.528000	0.85240	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	1	0	1	66	280	0	55	0	0	0	1	0	55	2		0	0	0	0	0	2	1	1	65	272	0	55	2								-20.000000	1	0	121412	7	41	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HCN1	348980	broad.mit.edu	37	5	45303919	45303919	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45303919C>T	ENST00000303230.4	-	6	1457	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1			156					CACCAGTTTCCGACAGTTGAA	0.358000																								0							SO:0001583	missense			ENST00000303230.4	1	1	hg19	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398180	0.96030	.	.	ENSG00000164588	ENST00000303230	D	0.96745	-4.11	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000010	D	0.94798	0.8320	M	0.71036	2.16	0.80722	D	1	D	0.52996	0.957	B	0.33846	0.171	D	0.95524	0.8597	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	467	O60741	HCN1_HUMAN	Q	467	ENSP00000307342:R467Q	ENSP00000307342:R467Q	R	-	2	0	HCN1	45339676	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	1	0	1	100	480	0	96	0	0	1	0	0	96	2		0	0	0	0	0	2	1	1	100	476	0	96	2								-2.712581	1	1	121400	3	39	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXOC3	11336	broad.mit.edu	37	5	453694	453694	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:453694T>C	ENST00000512944.1	+	4	763	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3			23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		TAAGCAGCTGTGGATGGTGCT	0.567000																								0							SO:0001583	missense			ENST00000512944.1	1	1	hg19	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151108	0.38021	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06849	3.25;3.25	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.46885	1.475	0.80722	D	1	P	0.35481	0.504	P	0.47786	0.557	T	0.14117	-1.0484	10	0.19590	T	0.45	-21.2894	13.6941	0.62567	0.0:0.0:0.0:1.0	.	203	O60645	EXOC3_HUMAN	R	192;192;202	ENSP00000425587:W192R;ENSP00000323377:W192R	ENSP00000323377:W192R	W	+	1	0	EXOC3	506694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.740000	0.84986	2.134000	0.65973	0.459000	0.35465	TGG		TCGA-IB-7651-01A-11D-2154-08	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	1	0	1	62	298	0	78	1	1	33	112	0	78	2		0	0	0	0	0	2	1	1	61	294	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC9A3	6550	broad.mit.edu	37	5	485298	485298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:485298C>T	ENST00000264938.3	-	4	733	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3			37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		ACGCCAGTCACGTTGTCACCT	0.607000																								0							SO:0001583	missense			ENST00000264938.3	1	1	hg19	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057595	0.36277	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.15487	2.42;2.42	4.15	4.15	0.48705	Cation/H+ exchanger (1);	0.277476	0.34750	N	0.003714	T	0.34077	0.0885	M	0.64170	1.965	0.33732	D	0.618384	D;D	0.69078	0.996;0.997	D;D	0.64042	0.921;0.911	T	0.51044	-0.8755	10	0.87932	D	0	.	11.1548	0.48480	0.0:0.9076:0.0:0.0924	.	242;242	E9PF67;P48764	.;SL9A3_HUMAN	M	242	ENSP00000264938:V242M;ENSP00000422983:V242M	ENSP00000264938:V242M	V	-	1	0	SLC9A3	538298	0.948000	0.32251	0.858000	0.33744	0.017000	0.09413	1.942000	0.40243	2.032000	0.59987	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	0	0	0	10	304	0	81	1	1.771497e-02	2	4	0	81	2		0	0	0	0	0	2	1	9.969043e-01	10	302	0	81	2								-3.777894	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.370000	0.190000	0.630000	0.360000	0.396394	0.370000	0	2.700000e-01	5.100000e-01
PARP8	79668	broad.mit.edu	37	5	50090042	50090042	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50090042A>T	ENST00000281631.5	+	11	897	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	PARP8_ENST00000514067.2_Splice_Site_p.I247F|PARP8_ENST00000505697.2_Splice_Site_p.I247F|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Splice_Site_p.I247F|PARP8_ENST00000505554.1_Splice_Site_p.I226F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8			49		Lung NSC(810;0.0305)|Breast(144;0.222)			GATTGACAGAATCATGCAGAC	0.338000																								0							SO:0001630	splice_region_variant			ENST00000281631.5	1	0	hg19	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986158	0.53934	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.43923	1.385	0.80722	D	1	B;D;D	0.53885	0.064;0.962;0.963	B;P;P	0.49853	0.046;0.608;0.624	T	0.49447	-0.8939	8	.	.	.	-13.2808	10.9049	0.47073	0.9264:0.0:0.0736:0.0	.	139;247;247	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	247;247;247;247;226	.	.	I	+	1	0	PARP8	50125799	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.649000	0.74364	2.172000	0.68678	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	1	0	1	54	206	0	48	1	9.998440e-01	5	48	0	48	2		0	0	0	0	0	2	1	1	54	201	0	48	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP8	79668	broad.mit.edu	37	5	50091153	50091153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50091153C>T	ENST00000281631.5	+	12	1488	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000514342.2_Missense_Mutation_p.L197F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8			49		Lung NSC(810;0.0305)|Breast(144;0.222)			CAAAACTGAGCTTTTCAAGGA	0.438000																								0							SO:0001583	missense			ENST00000281631.5	1	1	hg19	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672488	0.47781	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.45	4.56	0.56223	.	0.323692	0.29205	N	0.012822	T	0.19485	0.0468	N	0.08118	0	0.30756	N	0.74455	B;P;B	0.43701	0.177;0.815;0.437	B;B;B	0.37047	0.068;0.24;0.068	T	0.04203	-1.0969	8	.	.	.	-5.7094	15.8371	0.78808	0.1369:0.8631:0.0:0.0	.	336;444;444	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	444;444;197;444;444;423;197;197	.	.	L	+	1	0	PARP8	50126910	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.495000	0.22483	1.379000	0.46325	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	1	0	1	72	386	0	99	1	9.999985e-01	8	97	0	99	2		0	0	0	0	0	2	1	1	71	376	0	99	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA1	3672	broad.mit.edu	37	5	52145208	52145208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52145208G>A	ENST00000282588.6	+	2	529	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1			51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)			GTTGTTCTACGCTGCTGCGTA	0.373000																								0							SO:0001583	missense			ENST00000282588.6	1	1	hg19	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	5.207	0.223791	0.09863	.	.	ENSG00000213949	ENST00000282588	D	0.85013	-1.93	5.53	3.64	0.41730	.	0.976260	0.08444	N	0.944947	T	0.69450	0.3112	N	0.12182	0.205	0.22112	N	0.999353	B	0.02656	0.0	B	0.01281	0.0	T	0.56171	-0.8023	10	0.13108	T	0.6	.	5.7312	0.18040	0.1697:0.1607:0.6696:0.0	.	24	P56199	ITA1_HUMAN	H	24	ENSP00000282588:R24H	ENSP00000282588:R24H	R	+	2	0	ITGA1	52180965	1.000000	0.71417	0.802000	0.32245	0.020000	0.10135	1.070000	0.30653	1.493000	0.48517	-0.138000	0.14375	CGC		TCGA-IB-7651-01A-11D-2154-08	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1	54	206	0	64	1	9.999999e-01	4	93	0	64	2		0	0	0	0	0	2	1	1	53	203	0	64	2								-3.670499	1	1	121402	4	36	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA1	3672	broad.mit.edu	37	5	52160617	52160617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52160617G>A	ENST00000282588.6	+	4	774	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1			51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)			AATTCCCAATGTCACAGAAGT	0.318000																								0							SO:0001583	missense			ENST00000282588.6	1	1	hg19	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474008	0.43942	.	.	ENSG00000213949	ENST00000282588	T	0.71341	-0.56	5.62	5.62	0.85841	.	0.132263	0.53938	D	0.000056	T	0.53417	0.1795	N	0.13235	0.315	0.40578	D	0.981368	P	0.36282	0.546	B	0.35312	0.2	T	0.56408	-0.7984	10	0.33940	T	0.23	.	13.273	0.60172	0.0726:0.0:0.9274:0.0	.	106	P56199	ITA1_HUMAN	I	106	ENSP00000282588:V106I	ENSP00000282588:V106I	V	+	1	0	ITGA1	52196374	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.087000	0.50167	2.810000	0.96702	0.585000	0.79938	GTC		TCGA-IB-7651-01A-11D-2154-08	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1	40	175	0	32	1	1	43	240	0	32	2		0	0	0	0	0	2	1	1	40	171	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ITGA1	3672	broad.mit.edu	37	5	52214572	52214572	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52214572G>A	ENST00000282588.6	+	16	2457	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1			51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)			GTCCCGAGATGTGGCCGTAGT	0.378000																								0							SO:0001583	missense			ENST00000282588.6	1	1	hg19	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879359	0.91740	.	.	ENSG00000213949	ENST00000282588	D	0.82893	-1.66	5.51	5.51	0.81932	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.89183	0.3545	10	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	667	P56199	ITA1_HUMAN	M	667	ENSP00000282588:V667M	ENSP00000282588:V667M	V	+	1	0	ITGA1	52250329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.973000	0.76116	2.738000	0.93877	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	0	12	239	0	31	1	9.999802e-01	21	405	0	31	2		0	0	0	0	0	2	1	9.990741e-01	12	234	0	31	2								-14.228730	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.560000	0.300000	0.900000	0.550000	0.581799	0.560000	0	4.200000e-01	7.300000e-01
ITGA1	3672	broad.mit.edu	37	5	52218680	52218680	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52218680T>G	ENST00000282588.6	+	18	2824	c.2366T>G	c.(2365-2367)gTt>gGt	p.V789G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1			51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)			AATGGGCCTGTTCTTGATGAT	0.338000																								0							SO:0001583	missense			ENST00000282588.6	1	1	hg19	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439252	0.83885	.	.	ENSG00000213949	ENST00000282588	T	0.57273	0.41	5.9	5.9	0.94986	Integrin alpha-2 (1);	0.263224	0.37178	N	0.002211	T	0.70360	0.3215	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.73164	-0.4069	10	0.87932	D	0	.	16.3264	0.82983	0.0:0.0:0.0:1.0	.	789	P56199	ITA1_HUMAN	G	789	ENSP00000282588:V789G	ENSP00000282588:V789G	V	+	2	0	ITGA1	52254437	1.000000	0.71417	0.556000	0.28293	0.995000	0.86356	6.327000	0.72910	2.259000	0.74868	0.374000	0.22700	GTT		TCGA-IB-7651-01A-11D-2154-08	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1	89	496	0	102	1	1	62	378	0	102	2		0	0	0	0	0	2	1	1	85	490	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGA1	3672	broad.mit.edu	37	5	52229781	52229781	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52229781T>C	ENST00000282588.6	+	23	3377	c.2919T>C	c.(2917-2919)atT>atC	p.I973I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1			51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)			CTGAAGTTATTAATTCTACTG	0.269000																								0							SO:0001819	synonymous_variant			ENST00000282588.6	1	1	hg19	CCDS3955.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1	30	242	0	53	1	1	24	358	0	53	2		0	0	0	0	0	2	1	1	30	237	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.880000	1.000000	1.000000	0.992877	0.990000	1	9.900000e-01	1
ITGA1	3672	broad.mit.edu	37	5	52240794	52240794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52240794C>A	ENST00000282588.6	+	27	3765	c.3307C>A	c.(3307-3309)Ctt>Att	p.L1103I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1			51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)			CAGCTTAAATCTTACTATAAG	0.328000																								0							SO:0001583	missense			ENST00000282588.6	1	1	hg19	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966775	0.53507	.	.	ENSG00000213949	ENST00000282588	T	0.50277	0.75	5.63	5.63	0.86233	.	0.058135	0.64402	D	0.000001	T	0.41581	0.1165	L	0.41079	1.255	0.41696	D	0.989375	P	0.48911	0.917	P	0.44447	0.45	T	0.14643	-1.0465	10	0.27082	T	0.32	.	12.5106	0.56003	0.1665:0.8335:0.0:0.0	.	1103	P56199	ITA1_HUMAN	I	1103	ENSP00000282588:L1103I	ENSP00000282588:L1103I	L	+	1	0	ITGA1	52276551	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.958000	0.40402	2.797000	0.96272	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1	98	426	0	139	1	1	11	548	0	139	2		0	0	0	0	0	2	1	1	97	415	0	139	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS16	170690	broad.mit.edu	37	5	5232600	5232600	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5232600T>A	ENST00000274181.7	+	12	1959	c.1821T>A	c.(1819-1821)tcT>tcA	p.S607S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					GGGGAGTATCTCATAGGAGTC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000274181.7	1	1	hg19	CCDS43299.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	1	100	475	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	97	458	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS16	170690	broad.mit.edu	37	5	5239367	5239367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5239367C>T	ENST00000274181.7	+	15	2396	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					GGTCTCTACACCAAGCACCAC	0.512000																								0							SO:0001583	missense			ENST00000274181.7	1	1	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612653	0.28712	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.54279	0.58	5.85	4.01	0.46588	ADAM-TS Spacer 1 (1);	0.278678	0.32624	N	0.005843	T	0.56630	0.1998	M	0.73962	2.25	0.19300	N	0.99998	B;B	0.32653	0.379;0.257	B;B	0.35813	0.197;0.211	T	0.53308	-0.8457	10	0.52906	T	0.07	.	15.354	0.74412	0.0:0.7418:0.2582:0.0	.	753;753	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	I	753	ENSP00000274181:T753I	ENSP00000274181:T753I	T	+	2	0	ADAMTS16	5292367	0.959000	0.32827	0.001000	0.08648	0.356000	0.29392	1.085000	0.30840	0.754000	0.32968	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	1	145	479	0	124	0	0	0	1	0	124	2		0	0	0	0	0	2	1	1	143	465	0	123	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOCS2	4338	broad.mit.edu	37	5	52396257	52396257	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52396257A>G	ENST00000396954.3	-	6	1162	c.485T>C	c.(484-486)gTg>gCg	p.V162A	MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000582677.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2			5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)			CCATATGGGCACCTTGGCTTT	0.403000																								0							SO:0001583	missense			ENST00000396954.3	1	1	hg19	CCDS3958.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497555	0.85069	.	.	ENSG00000164172	ENST00000396954	T	0.22539	1.95	5.65	5.65	0.86999	.	0.123423	0.56097	D	0.000038	T	0.41259	0.1151	M	0.62154	1.92	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.08889	-1.0700	10	0.33940	T	0.23	-7.8556	15.3584	0.74448	1.0:0.0:0.0:0.0	.	162	O96007	MOC2B_HUMAN	A	162	ENSP00000380157:V162A	ENSP00000380157:V162A	V	-	2	0	MOCS2	52432014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.373000	0.79623	2.279000	0.76181	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	1	0	1	55	277	0	78	1	1	56	168	0	78	2		0	0	0	0	0	2	1	1	54	270	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FST	10468	broad.mit.edu	37	5	52778894	52778894	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52778894C>T	ENST00000256759.3	+	2	653	c.270C>T	c.(268-270)ccC>ccT	p.P90P	FST_ENST00000396947.3_Silent_p.P90P	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin			15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)			ACTGCATCCCCTGTAAAGGTA	0.577000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000256759.3	1	1	hg19	CCDS3959.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	1	0	1	57	246	0	71	1	9.226533e-01	4	17	0	71	2		0	0	0	0	0	2	1	1	56	245	0	70	2								-2.767463	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FST	10468	broad.mit.edu	37	5	52779404	52779404	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52779404C>T	ENST00000256759.3	+	3	731	c.348C>T	c.(346-348)tgC>tgT	p.C116C	FST_ENST00000396947.3_Silent_p.C116C	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin			15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)			AACCCCGCTGCGTCTGCGCCC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000256759.3	1	1	hg19	CCDS3959.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	1	0	1	47	204	0	82	1	9.928527e-01	8	28	0	82	2		0	0	0	0	0	2	1	1	46	202	0	82	2								-20.000000	1	1	121412	2	32	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS16	170690	broad.mit.edu	37	5	5306689	5306689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306689T>C	ENST00000274181.7	+	21	3397	c.3259T>C	c.(3259-3261)Tat>Cat	p.Y1087H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					TTCTGGAAAGTATCGAGAGCT	0.488000																								0							SO:0001583	missense			ENST00000274181.7	1	1	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871652	0.33069	.	.	ENSG00000145536	ENST00000274181	T	0.60920	0.15	5.51	4.36	0.52297	.	0.073859	0.56097	D	0.000031	T	0.66177	0.2763	M	0.61703	1.905	0.40458	D	0.980219	D	0.76494	0.999	D	0.70487	0.969	T	0.64045	-0.6499	10	0.15066	T	0.55	.	7.8219	0.29292	0.0:0.0933:0.0:0.9067	.	1087	Q8TE57	ATS16_HUMAN	H	1087	ENSP00000274181:Y1087H	ENSP00000274181:Y1087H	Y	+	1	0	ADAMTS16	5359689	1.000000	0.71417	0.938000	0.37757	0.054000	0.15201	5.836000	0.69375	0.952000	0.37798	0.459000	0.35465	TAT		TCGA-IB-7651-01A-11D-2154-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	0	1	97	373	1	94	0	1.120343e-01	0	3	1	94	2		0	0	0	0	0	2	1	1	97	366	1	93	23								-20.000000	1	0	120882	20	46	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS16	170690	broad.mit.edu	37	5	5306714	5306714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306714G>A	ENST00000274181.7	+	21	3422	c.3284G>A	c.(3283-3285)tGc>tAc	p.C1095Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					TCAAAGAAGTGCTCACATTTG	0.542000																								0							SO:0001583	missense			ENST00000274181.7	1	1	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030328	0.35797	.	.	ENSG00000145536	ENST00000274181	T	0.72835	-0.69	5.51	4.61	0.57282	.	0.115575	0.64402	D	0.000013	T	0.76478	0.3993	M	0.90870	3.155	0.49130	D	0.999753	B	0.15141	0.012	B	0.21917	0.037	T	0.76310	-0.3006	10	0.87932	D	0	.	11.3249	0.49442	0.0:0.0:0.8181:0.1819	.	1095	Q8TE57	ATS16_HUMAN	Y	1095	ENSP00000274181:C1095Y	ENSP00000274181:C1095Y	C	+	2	0	ADAMTS16	5359714	1.000000	0.71417	0.921000	0.36526	0.117000	0.20001	7.121000	0.77160	1.262000	0.44165	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	1	74	280	0	70	0	4.484940e-02	0	2	0	70	2		0	0	0	0	0	2	1	1	74	272	0	69	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX18	112574	broad.mit.edu	37	5	53814741	53814741	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53814741A>G	ENST00000326277.3	+	1	1149	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	SNX18_ENST00000381410.4_Missense_Mutation_p.Y320C|SNX18_ENST00000343017.6_Missense_Mutation_p.Y320C	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18			18		Lung NSC(810;3.46e-05)|Breast(144;0.102)			GACTGGCTGTACGCGCGCCTG	0.627000																								0							SO:0001583	missense			ENST00000326277.3	1	1	hg19	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161752	0.38119	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.39997	1.05;1.05;1.05	4.8	2.33	0.28932	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.92738	3.34	0.53005	D	0.999964	D;D	0.76494	0.997;0.999	D;D	0.79108	0.911;0.992	T	0.68243	-0.5460	10	0.87932	D	0	-19.6997	8.0741	0.30706	0.7244:0.1411:0.0:0.1345	.	320;320	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	C	320	ENSP00000342276:Y320C;ENSP00000370817:Y320C;ENSP00000317332:Y320C	ENSP00000317332:Y320C	Y	+	2	0	SNX18	53850498	1.000000	0.71417	0.298000	0.25002	0.377000	0.30045	9.121000	0.94375	0.309000	0.22966	-0.472000	0.04984	TAC		TCGA-IB-7651-01A-11D-2154-08	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2	1	0	1	45	215	0	45	1	9.999998e-01	21	95	0	45	2		0	0	0	0	0	2	1	1	45	211	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SNX18	112574	broad.mit.edu	37	5	53815541	53815541	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53815541G>T	ENST00000326277.3	+	1	1949	c.1759G>T	c.(1759-1761)Gtc>Ttc	p.V587F	SNX18_ENST00000381410.4_Intron|SNX18_ENST00000343017.6_Missense_Mutation_p.V587F	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18			18		Lung NSC(810;3.46e-05)|Breast(144;0.102)			GGACGCCTGGGTCTTTTCCCT	0.493000																								0							SO:0001583	missense			ENST00000326277.3	1	1	hg19	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881811	0.17467	.	.	ENSG00000178996	ENST00000343017;ENST00000326277	T;T	0.14391	2.51;2.62	3.06	0.213	0.15244	.	0.215838	0.39210	N	0.001424	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.20955	0.032	T	0.34329	-0.9833	10	0.87932	D	0	-1.5102	7.3114	0.26477	0.107:0.342:0.5509:0.0	.	587	Q96RF0	SNX18_HUMAN	F	587	ENSP00000342276:V587F;ENSP00000317332:V587F	ENSP00000317332:V587F	V	+	1	0	SNX18	53851298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.078000	0.11375	-0.229000	0.09854	-1.268000	0.01426	GTC		TCGA-IB-7651-01A-11D-2154-08	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2	1	0	1	66	251	0	61	1	2.838923e-01	2	3	0	61	2		0	0	0	0	0	2	1	1	65	247	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GZMK	3003	broad.mit.edu	37	5	54327211	54327211	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54327211T>G	ENST00000231009.2	+	4	453	c.383T>G	c.(382-384)cTc>cGc	p.L128R	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)			15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)			GCCGCAAAACTCAATAAACAT	0.438000																								0							SO:0001583	missense			ENST00000231009.2	1	1	hg19	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789054	0.31685	.	.	ENSG00000113088	ENST00000231009	D	0.90133	-2.62	4.78	4.78	0.61160	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.382752	0.24492	N	0.038041	D	0.93449	0.7910	M	0.77313	2.365	0.35020	D	0.75771	P	0.35124	0.485	P	0.48840	0.592	D	0.97186	0.9854	10	0.87932	D	0	.	13.4165	0.60972	0.0:0.0:0.0:1.0	.	128	P49863	GRAK_HUMAN	R	128	ENSP00000231009:L128R	ENSP00000231009:L128R	L	+	2	0	GZMK	54362968	0.010000	0.17322	0.095000	0.20976	0.263000	0.26337	0.943000	0.29030	2.011000	0.59026	0.533000	0.62120	CTC		TCGA-IB-7651-01A-11D-2154-08	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	1	0	1	77	359	0	72	0	8.882624e-01	0	20	0	72	2		0	0	0	0	0	2	1	1	73	358	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC20B	166979	broad.mit.edu	37	5	54416252	54416252	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54416252C>T	ENST00000381375.2	-	10	1487		c.e10+1		CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000334206.5_Splice_Site|CDC20B_ENST00000322374.6_Intron			Q86Y33	CD20B_HUMAN	cell division cycle 20B			19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)		GAGATATTAACCTGTGAGTTT	0.448000																								0							SO:0001630	splice_region_variant			ENST00000381375.2	1	1	hg19	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232330	0.79688	.	.	ENSG00000164287	ENST00000296733;ENST00000381375	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.586	0.87981	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC20B	54452009	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.747000	0.68689	2.556000	0.86216	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	1	0	1	93	425	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	93	419	0	104	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC20B	166979	broad.mit.edu	37	5	54442668	54442668	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54442668T>C	ENST00000381375.2	-	3	288	c.143A>G	c.(142-144)aAt>aGt	p.N48S	CDC20B_ENST00000296733.1_Missense_Mutation_p.N48S|CDC20B_ENST00000334206.5_Missense_Mutation_p.N48S|CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S			Q86Y33	CD20B_HUMAN	cell division cycle 20B			19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)		ATACGTAGCATTAACTGAATC	0.428000											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000381375.2	1	1	hg19	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	T	4.960	0.178261	0.09443	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;2.31	4.79	0.18	0.15068	.	0.978663	0.08339	N	0.961176	T	0.14614	0.0353	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.34453	-0.9828	10	0.10902	T	0.67	-9.7405	5.6196	0.17450	0.0:0.2196:0.4748:0.3055	.	48;48;48;48	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	S	48;48;48;48;27	ENSP00000335664:N48S;ENSP00000296733:N48S;ENSP00000370781:N48S;ENSP00000315720:N48S;ENSP00000330566:N27S	ENSP00000296733:N48S	N	-	2	0	CDC20B	54478425	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.066000	0.14489	0.137000	0.18759	-0.280000	0.10049	AAT		TCGA-IB-7651-01A-11D-2154-08	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	1	0	0	43	190	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	41	187	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNO	10309	broad.mit.edu	37	5	54527253	54527253	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527253G>T	ENST00000282572.4	-	3	1159	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O			5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		TGAACGGGCAGCATGTGAGTC	0.582000																								0							SO:0001583	missense			ENST00000282572.4	1	1	hg19	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819454	0.50633	.	.	ENSG00000152669	ENST00000282572	T	0.26518	1.73	5.7	1.29	0.21616	.	0.215519	0.37095	N	0.002246	T	0.35451	0.0932	L	0.50333	1.59	0.32880	D	0.510423	D	0.56968	0.978	P	0.61940	0.896	T	0.44620	-0.9316	10	0.59425	D	0.04	.	7.2781	0.26296	0.2535:0.0:0.6241:0.1224	.	335	P22674	CCNO_HUMAN	M	335	ENSP00000282572:L335M	ENSP00000282572:L335M	L	-	1	2	CCNO	54563010	0.981000	0.34729	0.998000	0.56505	0.615000	0.37417	1.260000	0.32968	0.322000	0.23283	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	1	0	1	57	307	0	69	1	7.963831e-01	6	12	0	69	2		0	0	0	0	0	2	1	1	56	303	0	68	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCNO	10309	broad.mit.edu	37	5	54527267	54527267	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527267G>A	ENST00000282572.4	-	3	1145	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O			5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		GTGAGTCAAGGAAGTACTGTT	0.592000																								0							SO:0001583	missense			ENST00000282572.4	1	1	hg19	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321669	0.41096	.	.	ENSG00000152669	ENST00000282572	T	0.19394	2.15	5.7	5.7	0.88788	.	0.363150	0.27673	N	0.018331	T	0.31513	0.0799	L	0.35414	1.06	0.23984	N	0.996264	D	0.60575	0.988	P	0.59288	0.855	T	0.22941	-1.0202	10	0.15499	T	0.54	.	19.4402	0.94817	0.0:0.0:1.0:0.0	.	330	P22674	CCNO_HUMAN	F	330	ENSP00000282572:S330F	ENSP00000282572:S330F	S	-	2	0	CCNO	54563024	0.989000	0.36119	0.683000	0.30040	0.765000	0.43378	4.199000	0.58426	2.696000	0.92011	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	1	0	1	56	313	0	60	1	7.231667e-01	6	10	0	60	2		0	0	0	0	0	2	1	1	55	311	0	59	2								-3.323042	1	0	121412	2	35	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SKIV2L2	23517	broad.mit.edu	37	5	54603911	54603911	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54603911A>G	ENST00000230640.5	+	1	324	c.70A>G	c.(70-72)Aaa>Gaa	p.K24E	SKIV2L2_ENST00000545714.1_5'UTR|SKIV2L2_ENST00000504388.1_3'UTR|DHX29_ENST00000251636.5_5'Flank	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)			41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)			GGCGGGAACCAAAAAAGACAA	0.522000													Melanoma(2;92 134 23744 29976 33782)											0							SO:0001583	missense			ENST00000230640.5	1	0	hg19	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562108	0.45590	.	.	ENSG00000039123	ENST00000230640	T	0.32753	1.44	5.36	5.36	0.76844	.	0.395813	0.27730	N	0.018097	T	0.23926	0.0579	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07693	-1.0759	10	0.09843	T	0.71	.	8.6538	0.34051	0.8302:0.0:0.0:0.1698	.	24	P42285	SK2L2_HUMAN	E	24	ENSP00000230640:K24E	ENSP00000230640:K24E	K	+	1	0	SKIV2L2	54639668	0.997000	0.39634	0.985000	0.45067	0.835000	0.47333	3.739000	0.55075	2.254000	0.74563	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1	1	0	1	96	413	0	103	1	9.999968e-01	33	47	0	103	2		0	0	0	0	0	2	1	1	94	372	0	88	2								-3.281557	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0947	0	broad.mit.edu	37	5	5460762	5460762	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5460762A>T	ENST00000296564.7	+	13	1537	c.1315A>T	c.(1315-1317)Act>Tct	p.T439S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN				35					TAAAGTGACAACTTCTGGACT	0.433000																								0							SO:0001583	missense			ENST00000296564.7	1	1	hg19	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	9.189	1.025657	0.19512	.	.	ENSG00000164151	ENST00000296564	T	0.42900	0.96	4.04	-8.09	0.01090	.	1.297730	0.05004	N	0.469731	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B	0.28291	0.206	B	0.25140	0.058	T	0.24621	-1.0155	10	0.06236	T	0.91	-3.1643	7.2261	0.26016	0.2062:0.4113:0.3824:0.0	.	439	Q9Y2F5	K0947_HUMAN	S	439	ENSP00000296564:T439S	ENSP00000296564:T439S	T	+	1	0	KIAA0947	5513762	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-3.578000	0.00425	-1.119000	0.02958	0.254000	0.18369	ACT		TCGA-IB-7651-01A-11D-2154-08	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1	9	111	0	36	1	7.668146e-01	6	30	0	36	2		0	0	0	0	0	2	1	9.939174e-01	8	108	0	36	2								-5.758255	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.870000	0.440000	1.000000	1.000000	0.836513	0.870000	1	6.300000e-01	1
KIAA0947	0	broad.mit.edu	37	5	5463617	5463617	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463617C>T	ENST00000296564.7	+	13	4392	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN				35					ACTGCGAGGCCGAAACAACAT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000296564.7	1	1	hg19	CCDS47187.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1	17	72	0	17	1	9.994457e-01	19	39	0	17	2		0	0	0	0	0	2	1	9.999728e-01	17	68	0	17	2								-20.000000	1	1	120908	5	33	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999649	0.990000	1	9.900000e-01	1
KIAA0947	0	broad.mit.edu	37	5	5463972	5463972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463972C>T	ENST00000296564.7	+	13	4747	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN				35					TGATAAGAGTCGTTTGCGAAA	0.428000																								0							SO:0001583	missense			ENST00000296564.7	1	1	hg19	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527259	0.64860	.	.	ENSG00000164151	ENST00000296564	T	0.12569	2.67	5.38	3.42	0.39159	.	.	.	.	.	T	0.07999	0.0200	L	0.27053	0.805	0.26004	N	0.982075	P	0.40534	0.72	B	0.34873	0.191	T	0.13361	-1.0512	9	0.37606	T	0.19	-10.3331	5.3434	0.15996	0.2153:0.6816:0.0:0.1031	.	1509	Q9Y2F5	K0947_HUMAN	C	1509	ENSP00000296564:R1509C	ENSP00000296564:R1509C	R	+	1	0	KIAA0947	5516972	0.000000	0.05858	0.578000	0.28575	0.986000	0.74619	0.450000	0.21762	2.524000	0.85096	0.460000	0.39030	CGT		TCGA-IB-7651-01A-11D-2154-08	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1	35	150	0	48	1	9.999665e-01	17	55	0	48	2		0	0	0	0	0	2	1	1	35	148	0	48	2								-19.977200	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
KIAA0947	0	broad.mit.edu	37	5	5464772	5464772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5464772C>T	ENST00000296564.7	+	13	5547	c.5325C>T	c.(5323-5325)ctC>ctT	p.L1775L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN				35					ATATTCAACTCACACGAGGTC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000296564.7	1	1	hg19	CCDS47187.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1	15	108	0	26	1	9.988442e-01	12	74	0	26	2		0	0	0	0	0	2	1	9.998878e-01	15	105	0	26	2								-19.999870	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.820000	1.000000	1.000000	0.988315	0.990000	1	9.900000e-01	1
SKIV2L2	23517	broad.mit.edu	37	5	54674996	54674996	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54674996G>T	ENST00000230640.5	+	18	2279	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	SKIV2L2_ENST00000545714.1_Silent_p.V574V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)			41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)			GAGTAGTGGTGAATTTCTCAA	0.294000													Melanoma(2;92 134 23744 29976 33782)											0							SO:0001819	synonymous_variant			ENST00000230640.5	1	1	hg19	CCDS3967.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1	1	0	1	42	170	0	62	1	1	81	221	0	62	2		0	0	0	0	0	2	1	1	41	165	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SKIV2L2	23517	broad.mit.edu	37	5	54706447	54706447	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54706447T>G	ENST00000230640.5	+	23	2995	c.2741T>G	c.(2740-2742)tTt>tGt	p.F914C	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)			41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)			TGCTTTGTGTTTCAAGAGAAT	0.323000													Melanoma(2;92 134 23744 29976 33782)											0							SO:0001583	missense			ENST00000230640.5	1	1	hg19	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758141	0.49468	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.25749	1.78;1.78	5.1	5.1	0.69264	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.33093	0.98	0.80722	D	1	B;B	0.23650	0.07;0.089	B;B	0.29353	0.043;0.101	T	0.03717	-1.1010	10	0.35671	T	0.21	-32.1727	15.1757	0.72910	0.0:0.0:0.0:1.0	.	813;914	F5H7E2;P42285	.;SK2L2_HUMAN	C	914;813	ENSP00000230640:F914C;ENSP00000442583:F813C	ENSP00000230640:F914C	F	+	2	0	SKIV2L2	54742204	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.549000	0.82163	2.047000	0.60756	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1	1	0	1	69	357	0	90	1	1	107	203	0	90	2		0	0	0	0	0	2	1	1	66	352	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0947	0	broad.mit.edu	37	5	5489440	5489440	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5489440C>T	ENST00000296564.7	+	19	7020	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN				35					AGGAGCTTGGCTGACCTGGGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000296564.7	1	1	hg19	CCDS47187.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	1	0	1	14	75	0	17	1	9.999334e-01	27	73	0	17	2		0	0	0	0	0	2	1	9.998096e-01	14	73	0	17	2								-19.999960	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.980000	1.000000	1.000000	0.997213	0.990000	1	9.900000e-01	1
DDX4	54514	broad.mit.edu	37	5	55059041	55059041	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55059041A>C	ENST00000505374.1	+	5	336	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.M82L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4			24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)			TACATCCACAATGGGTGGTTT	0.318000																								0							SO:0001583	missense			ENST00000505374.1	1	1	hg19	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	3.374	-0.127770	0.06753	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T;T	0.43294	2.08;2.06;2.1;3.58;0.98;0.97;2.08;0.95	4.99	-7.6	0.01303	.	0.763357	0.11712	N	0.536851	T	0.25269	0.0614	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22382	-1.0218	10	0.17832	T	0.49	-15.6323	11.6015	0.51006	0.7513:0.1138:0.1349:0.0	.	82;82;82	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	L	82;82;82;82;56;82;82;82;82	ENSP00000334167:M82L;ENSP00000425359:M82L;ENSP00000424838:M82L;ENSP00000427167:M82L;ENSP00000424779:M56L;ENSP00000424112:M82L;ENSP00000347087:M82L;ENSP00000427522:M82L	ENSP00000334167:M82L	M	+	1	0	DDX4	55094798	0.001000	0.12720	0.005000	0.12908	0.082000	0.17680	-1.309000	0.02728	-1.647000	0.01511	-0.467000	0.05162	ATG		TCGA-IB-7651-01A-11D-2154-08	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	1	0	1	59	289	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	58	284	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX4	54514	broad.mit.edu	37	5	55076936	55076936	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55076936G>A	ENST00000505374.1	+	9	631	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000353507.5_Missense_Mutation_p.G146D|DDX4_ENST00000511853.1_Missense_Mutation_p.G47D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4			24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)			CGCACTGGTGGCCTTTTTGGT	0.338000																								0							SO:0001583	missense			ENST00000505374.1	1	1	hg19	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993511	0.54041	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.25085	1.91;1.85;1.82;3.35;1.91;1.87	5.39	5.39	0.77823	.	0.248184	0.39475	N	0.001360	T	0.17831	0.0428	N	0.22421	0.69	0.35274	D	0.780699	P;P;B;P	0.43826	0.547;0.779;0.41;0.818	B;B;B;B	0.37650	0.245;0.184;0.211;0.255	T	0.14896	-1.0456	10	0.37606	T	0.19	-24.5727	14.5308	0.67923	0.0:0.0:1.0:0.0	.	160;47;146;180	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	D	146;160;180;160;146;47	ENSP00000334167:G146D;ENSP00000425359:G160D;ENSP00000424838:G180D;ENSP00000427167:G160D;ENSP00000347087:G146D;ENSP00000423123:G47D	ENSP00000334167:G146D	G	+	2	0	DDX4	55112693	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.772000	0.47678	2.801000	0.96364	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	1	0	1	70	340	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	69	335	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX4	54514	broad.mit.edu	37	5	55094363	55094363	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55094363A>C	ENST00000505374.1	+	18	1671	c.1579A>C	c.(1579-1581)Aaa>Caa	p.K527Q	DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q|DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4			24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)			CCAGTTCTCAAAAAGAGAAAA	0.333000																								0							SO:0001583	missense			ENST00000505374.1	1	1	hg19	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575244	0.86542	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	D;D;D;T;D;D	0.96459	-4.02;-4.02;-4.02;2.4;-4.02;-4.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	H	0.99336	4.52	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99066	1.0832	10	0.87932	D	0	-17.7786	15.951	0.79840	1.0:0.0:0.0:0.0	.	507;378;493;527	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	Q	493;507;527;507;493;378	ENSP00000334167:K493Q;ENSP00000425359:K507Q;ENSP00000424838:K527Q;ENSP00000427167:K507Q;ENSP00000347087:K493Q;ENSP00000423123:K378Q	ENSP00000334167:K493Q	K	+	1	0	DDX4	55130120	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	8.871000	0.92346	2.172000	0.68678	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	1	0	1	100	420	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	97	408	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX4	54514	broad.mit.edu	37	5	55110988	55110988	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55110988G>T	ENST00000505374.1	+	20	2067	c.1975G>T	c.(1975-1977)Gta>Tta	p.V659L	DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000353507.5_Missense_Mutation_p.V625L|DDX4_ENST00000511853.1_Missense_Mutation_p.V510L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4			24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)			TCTAGTAAAAGTATTGACAGA	0.348000																								0							SO:0001583	missense			ENST00000505374.1	1	1	hg19	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111772	0.37242	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.54	4.67	0.58626	Helicase, C-terminal (1);	0.129390	0.52532	D	0.000067	D	0.86121	0.5857	N	0.00841	-1.15	0.42344	D	0.99234	B;P;P;D	0.71674	0.189;0.949;0.562;0.998	B;P;B;D	0.75484	0.155;0.53;0.32;0.986	D	0.87474	0.2416	10	0.38643	T	0.18	-13.0889	10.3328	0.43833	0.1493:0.0:0.8507:0.0	.	639;510;625;659	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	625;639;659;625;510	ENSP00000334167:V625L;ENSP00000425359:V639L;ENSP00000424838:V659L;ENSP00000347087:V625L;ENSP00000423123:V510L	ENSP00000334167:V625L	V	+	1	0	DDX4	55146745	1.000000	0.71417	0.995000	0.50966	0.030000	0.12068	3.229000	0.51278	1.345000	0.45676	0.561000	0.74099	GTA		TCGA-IB-7651-01A-11D-2154-08	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	1	0	1	111	533	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	108	527	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL31RA	133396	broad.mit.edu	37	5	55203234	55203234	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55203234T>G	ENST00000447346.2	+	10	1365	c.1300T>G	c.(1300-1302)Ttg>Gtg	p.L434V	IL31RA_ENST00000396834.1_Missense_Mutation_p.L415V|IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V|IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A			21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)			GTATCCAATGTTGCATGACAA	0.438000																								0							SO:0001583	missense			ENST00000447346.2	1	1	hg19	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	T	6.949	0.545020	0.13312	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.78	0.436	0.16549	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.773311	0.12435	N	0.469226	T	0.36110	0.0955	M	0.68317	2.08	0.09310	N	1	B;B;B;B;B	0.29988	0.068;0.112;0.112;0.112;0.264	B;B;B;B;B	0.24701	0.014;0.032;0.032;0.032;0.055	T	0.25502	-1.0130	10	0.31617	T	0.26	-20.9055	1.2853	0.02049	0.3049:0.0871:0.158:0.45	.	402;434;415;434;434	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	V	434;415;434;434;292;292;415	ENSP00000380048:L434V;ENSP00000380046:L415V;ENSP00000415900:L434V;ENSP00000351935:L434V;ENSP00000297015:L292V;ENSP00000427533:L292V;ENSP00000347047:L415V	ENSP00000297015:L292V	L	+	1	2	IL31RA	55238991	0.000000	0.05858	0.008000	0.14137	0.430000	0.31655	-0.124000	0.10595	0.504000	0.28082	0.533000	0.62120	TTG		TCGA-IB-7651-01A-11D-2154-08	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	1	0	0	11	259	0	47	0	6.087837e-03	0	3	0	47	2		0	0	0	0	0	2	1	9.980618e-01	10	250	0	46	2								-13.496530	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.480000	0.250000	0.780000	0.470000	0.500853	0.480000	0	3.500000e-01	6.300000e-01
IL6ST	3572	broad.mit.edu	37	5	55237234	55237234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237234C>T	ENST00000381298.2	-	17	2745	c.2433G>A	c.(2431-2433)agG>agA	p.R811R	IL6ST_ENST00000381294.3_Silent_p.R750R|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.R811R|IL6ST_ENST00000502326.3_Silent_p.R811R|CTD-2031P19.5_ENST00000576302.1_RNA	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer			26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)			AGTACTGTTGCCTGGGCAAAA	0.433000			O		hepatocellular ca										Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0							SO:0001819	synonymous_variant			ENST00000381298.2	1	1	hg19	CCDS3971.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	1	0	0	129	538	0	117	1	1	26	325	0	117	2		0	0	0	0	0	2	1	1	126	530	0	117	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL6ST	3572	broad.mit.edu	37	5	55237336	55237336	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237336G>A	ENST00000381298.2	-	17	2643	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	IL6ST_ENST00000381294.3_Silent_p.F716F|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.F777F|IL6ST_ENST00000502326.3_Silent_p.F777F|CTD-2031P19.5_ENST00000576302.1_RNA	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer			26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)			CGGATCTTGAGAAGACTTGGA	0.463000			O		hepatocellular ca										Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0							SO:0001819	synonymous_variant			ENST00000381298.2	1	1	hg19	CCDS3971.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	1	0	1	101	461	0	110	1	1	44	454	0	110	2		0	0	0	0	0	2	1	1	98	446	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL6ST	3572	broad.mit.edu	37	5	55247894	55247894	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55247894T>C	ENST00000381298.2	-	13	1874	c.1562A>G	c.(1561-1563)aAa>aGa	p.K521R	IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R|IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer			26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)			AGTAGGTCCTTTGGAAGGTGC	0.343000			O		hepatocellular ca										Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0							SO:0001583	missense			ENST00000381298.2	1	1	hg19	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.757534	0.31137	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.53640	0.61;0.61;2.3	5.83	-3.57	0.04612	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.460210	0.28109	N	0.016572	T	0.25644	0.0624	L	0.28458	0.855	0.52099	D	0.999945	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.13407	0.002;0.009;0.002	T	0.15521	-1.0434	10	0.10902	T	0.67	.	8.4371	0.32793	0.1046:0.4327:0.0:0.4626	.	521;460;521	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	R	521;521;460	ENSP00000370698:K521R;ENSP00000338799:K521R;ENSP00000370694:K460R	ENSP00000338799:K521R	K	-	2	0	IL6ST	55283651	0.747000	0.28283	0.976000	0.42696	0.953000	0.61014	-0.512000	0.06313	-0.357000	0.08175	-0.899000	0.02877	AAA		TCGA-IB-7651-01A-11D-2154-08	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	0	0	0	9	212	0	52	1	9.929093e-01	2	206	0	52	2		0	0	0	0	0	2	1	9.938914e-01	9	207	0	52	2								-11.154620	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.480000	0.240000	0.820000	0.470000	0.506602	0.480000	0	3.400000e-01	6.500000e-01
IL6ST	3572	broad.mit.edu	37	5	55260120	55260120	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55260120T>C	ENST00000381298.2	-	6	824	c.512A>G	c.(511-513)gAt>gGt	p.D171G	IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000577363.1_5'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer			26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)			TGCTTTGCAATCAGCAAACTT	0.358000			O		hepatocellular ca										Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0							SO:0001583	missense			ENST00000381298.2	1	1	hg19	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858626	0.51376	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.65	5.65	0.86999	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.547899	0.20309	N	0.094861	D	0.88599	0.6480	M	0.66939	2.045	0.30165	N	0.801841	D;P;P	0.58970	0.984;0.955;0.907	P;P;P	0.61477	0.889;0.754;0.677	D	0.85066	0.0937	10	0.27082	T	0.32	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	171;171;171	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	G	171	ENSP00000370698:D171G;ENSP00000338799:D171G;ENSP00000370694:D171G;ENSP00000370687:D171G;ENSP00000444456:D171G;ENSP00000435399:D171G	ENSP00000338799:D171G	D	-	2	0	IL6ST	55295877	1.000000	0.71417	0.959000	0.39883	0.079000	0.17450	4.080000	0.57620	2.371000	0.80710	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	1	0	1	38	180	0	46	1	1	19	216	0	46	2		0	0	0	0	0	2	1	1	38	179	0	46	2								-19.984780	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
IL6ST	3572	broad.mit.edu	37	5	55264223	55264223	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55264223C>A	ENST00000381298.2	-	5	684	c.372G>T	c.(370-372)ttG>ttT	p.L124F	IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381294.3_Splice_Site_p.L124F|IL6ST_ENST00000381287.4_Splice_Site_p.L124F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Splice_Site_p.L124F|IL6ST_ENST00000522633.2_Splice_Site_p.L124F|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Splice_Site_p.L124F|IL6ST_ENST00000502326.3_Splice_Site_p.L124F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer			26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)			TTTCTGGAGGCACTAAAAGGG	0.368000			O		hepatocellular ca										Dom	yes		5	5q11	3572	interleukin 6 signal transducer (gp130, oncostatin M receptor)		E	0							SO:0001630	splice_region_variant			ENST00000381298.2	1	0	hg19	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	9.104	1.004958	0.19199	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.76	0.656	0.17844	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.599517	0.18360	N	0.143601	T	0.11367	0.0277	N	0.21448	0.665	0.80722	D	1	B;B;B	0.20780	0.004;0.048;0.001	B;B;B	0.18871	0.005;0.023;0.001	T	0.15838	-1.0423	10	0.32370	T	0.25	.	5.608	0.17391	0.3904:0.4128:0.0:0.1967	.	124;124;124	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	F	124	ENSP00000370698:L124F;ENSP00000338799:L124F;ENSP00000370694:L124F;ENSP00000370687:L124F;ENSP00000444456:L124F;ENSP00000435399:L124F	ENSP00000338799:L124F	L	-	3	2	IL6ST	55299980	0.975000	0.34042	0.993000	0.49108	0.842000	0.47809	-0.009000	0.12765	-0.102000	0.12197	-0.143000	0.13931	TTG		TCGA-IB-7651-01A-11D-2154-08	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	1	0	1	60	376	0	74	1	1	11	222	0	74	2		0	0	0	0	0	2	1	1	58	371	0	74	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
ANKRD55	79722	broad.mit.edu	37	5	55407022	55407022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55407022C>T	ENST00000341048.4	-	10	1704	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K|ANKRD55_ENST00000505970.2_5'Flank|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55			34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)			ACTGAGCAATCTGTCCAGCAG	0.468000																								0							SO:0001583	missense			ENST00000341048.4	1	1	hg19	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	0.152	-1.090391	0.01873	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.36878	1.46;1.23;1.58	5.63	4.77	0.60923	.	0.201254	0.44285	D	0.000473	T	0.21347	0.0514	N	0.14661	0.345	0.27934	N	0.937774	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.11567	-1.0582	10	0.15952	T	0.53	.	13.1596	0.59537	0.0:0.926:0.0:0.074	.	518;517	B3KVT8;Q3KP44	.;ANR55_HUMAN	K	518;518;475;230	ENSP00000342295:R518K;ENSP00000424230:R475K;ENSP00000429421:R230K	ENSP00000342295:R518K	R	-	2	0	ANKRD55	55442779	0.982000	0.34865	0.896000	0.35187	0.049000	0.14656	2.391000	0.44424	1.527000	0.49086	-0.136000	0.14681	AGA		TCGA-IB-7651-01A-11D-2154-08	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	1	0	0	33	929	0	211	0	0	0	1	0	211	2		0	0	0	0	0	2	1	1	32	912	0	210	2								-3.320377	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.390000	0.270000	0.540000	0.400000	0.406313	0.390000	0	3.300000e-01	4.700000e-01
MAP3K1	4214	broad.mit.edu	37	5	56155658	56155658	+	Silent	SNP	T	T	C	rs67178207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56155658T>C	ENST00000399503.3	+	3	750	c.750T>C	c.(748-750)agT>agC	p.S250S	AC008937.2_ENST00000415589.1_RNA|snoU13_ENST00000459264.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase			57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)			GCCGACGCAGTCCTTCTCCTG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000399503.3	1	1	hg19	CCDS43318.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	1	0	0	27	141	0	30	1	9.897217e-01	7	34	0	30	2		0	0	0	0	0	2	1	1	27	140	0	29	2								-15.710370	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999884	0.990000	1	9.900000e-01	1
MAP3K1	4214	broad.mit.edu	37	5	56171053	56171053	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56171053C>A	ENST00000399503.3	+	10	1881	c.1881C>A	c.(1879-1881)atC>atA	p.I627I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase			57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)			AGACCAGTATCTCAGGAGATG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000399503.3	0	1	hg19	CCDS43318.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	0	0	0	9	271	0	57	0	4.177984e-01	1	39	0	57	2		0	0	0	0	0	2	1	9.936365e-01	8	264	0	57	2								-10.215050	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.380000	0.180000	0.660000	0.370000	0.402953	0.380000	0	2.700000e-01	5.200000e-01
MAP3K1	4214	broad.mit.edu	37	5	56177726	56177726	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177726G>T	ENST00000399503.3	+	14	2699	c.2699G>T	c.(2698-2700)aGt>aTt	p.S900I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase			57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)			ACAGAGAACAGTTCCCCTGAG	0.473000																								0							SO:0001583	missense			ENST00000399503.3	1	1	hg19	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	1.443	-0.567040	0.03910	.	.	ENSG00000095015	ENST00000399503	T	0.35048	1.33	5.21	1.89	0.25635	.	1.227700	0.06049	N	0.656229	T	0.24431	0.0592	L	0.29908	0.895	0.09310	N	1	B	0.33448	0.412	B	0.30855	0.121	T	0.29088	-1.0023	10	0.52906	T	0.07	.	2.8169	0.05458	0.3889:0.236:0.375:0.0	.	900	Q13233	M3K1_HUMAN	I	900	ENSP00000382423:S900I	ENSP00000382423:S900I	S	+	2	0	MAP3K1	56213483	0.987000	0.35691	0.002000	0.10522	0.001000	0.01503	2.621000	0.46418	0.688000	0.31529	-0.126000	0.14955	AGT		TCGA-IB-7651-01A-11D-2154-08	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	1	0	1	61	217	0	51	1	9.999638e-01	18	39	0	51	2		0	0	0	0	0	2	1	1	60	212	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K1	4214	broad.mit.edu	37	5	56177918	56177918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177918G>T	ENST00000399503.3	+	14	2891	c.2891G>T	c.(2890-2892)aGt>aTt	p.S964I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase			57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)			AGACCCCACAGTCAGTGTTTG	0.453000																								0							SO:0001583	missense			ENST00000399503.3	1	1	hg19	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475157	0.63737	.	.	ENSG00000095015	ENST00000399503	T	0.37235	1.21	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.54323	1.7	0.54753	D	0.999986	P	0.47409	0.895	P	0.47470	0.548	T	0.43653	-0.9378	10	0.72032	D	0.01	.	14.4987	0.67707	0.0703:0.0:0.9297:0.0	.	964	Q13233	M3K1_HUMAN	I	964	ENSP00000382423:S964I	ENSP00000382423:S964I	S	+	2	0	MAP3K1	56213675	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.230000	0.65321	1.421000	0.47157	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	1	0	1	100	342	0	67	1	9.999984e-01	17	51	0	67	2		0	0	0	0	0	2	1	1	100	334	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K1	4214	broad.mit.edu	37	5	56181885	56181885	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56181885T>C	ENST00000399503.3	+	17	4109	c.4109T>C	c.(4108-4110)gTc>gCc	p.V1370A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase			57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)			CACAGAGATGTCAAAGGTGAG	0.363000																								0							SO:0001583	missense			ENST00000399503.3	1	1	hg19	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680857	0.68042	.	.	ENSG00000095015	ENST00000399503	T	0.27104	1.69	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082046	0.52532	D	0.000071	T	0.44623	0.1302	M	0.93420	3.415	0.47441	D	0.999429	P	0.38280	0.625	B	0.37508	0.252	T	0.58912	-0.7552	10	0.87932	D	0	.	16.0623	0.80847	0.0:0.0:0.0:1.0	.	1370	Q13233	M3K1_HUMAN	A	1370	ENSP00000382423:V1370A	ENSP00000382423:V1370A	V	+	2	0	MAP3K1	56217642	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.654000	0.74387	2.195000	0.70347	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	1	0	1	49	422	0	59	1	9.841940e-01	4	54	0	59	2		0	0	0	0	0	2	1	1	47	411	0	59	2								-16.629260	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.900000	1.000000	1.000000	0.994163	0.990000	1	9.900000e-01	1
MIER3	166968	broad.mit.edu	37	5	56224611	56224611	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56224611G>A	ENST00000381199.3	-	10	917	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	MIER3_ENST00000381213.3_Missense_Mutation_p.L302F|MIER3_ENST00000381226.3_Missense_Mutation_p.L308F|MIER3_ENST00000409421.1_Missense_Mutation_p.L240F|CTD-2310F14.1_ENST00000606813.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3			19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)			TTCTGTATAAGATGAAAATCT	0.303000																								0							SO:0001583	missense			ENST00000381199.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.8	4.569239	0.86439	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.64	5.64	0.86602	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.110123	0.64402	D	0.000006	T	0.65144	0.2663	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.985	P;D;P	0.67548	0.905;0.952;0.863	T	0.65940	-0.6046	10	0.59425	D	0.04	-10.7073	19.6987	0.96043	0.0:0.0:1.0:0.0	.	303;308;302	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	F	308;302;303;240	ENSP00000370624:L308F;ENSP00000370611:L302F;ENSP00000370596:L303F;ENSP00000386584:L240F	ENSP00000370596:L303F	L	-	1	0	MIER3	56260368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.018000	0.64054	2.647000	0.89833	0.467000	0.42956	CTT		TCGA-IB-7651-01A-11D-2154-08	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	1	0	1	45	225	0	55	1	9.938578e-01	6	36	0	55	2		0	0	0	0	0	2	1	1	44	222	0	54	2								-3.360281	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ACTBL2	345651	broad.mit.edu	37	5	56778460	56778460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56778460G>A	ENST00000423391.1	-	1	176	c.75C>T	c.(73-75)gaC>gaT	p.D25D	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	p.D25D(1)		28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)			GGGGGGCATCGTCACCACCAA	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000423391.1	1	1	hg19	CCDS34163.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	1	0	1	36	184	0	41	1	1.334828e-01	2	2	0	41	2		0	0	0	0	0	2	1	1	35	179	0	41	2								-20.000000	1	1	121408	10	39	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
PLK2	10769	broad.mit.edu	37	5	57753328	57753328	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57753328G>A	ENST00000274289.3	-	6	1096	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2			26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)			ACACAGCCCAGGGCCCAAATG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000274289.3	1	1	hg19	CCDS3974.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	1	0	1	36	200	0	72	1	1	62	124	0	72	2		0	0	0	0	0	2	1	1	34	196	0	71	2								-2.895004	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
GAPT	202309	broad.mit.edu	37	5	57790515	57790515	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57790515G>A	ENST00000396776.2	+	3	614	c.152G>A	c.(151-153)aGc>aAc	p.S51N	GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane			7					CAAAGGAGAAGCAGCAGGAGA	0.448000																								0							SO:0001583	missense			ENST00000396776.2	1	1	hg19	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	G	7.803	0.713986	0.15306	.	.	ENSG00000175857	ENST00000502276;ENST00000396776;ENST00000511930;ENST00000318469	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.82	-0.16	0.13375	.	0.655330	0.14962	N	0.288322	T	0.30355	0.0762	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.18304	-1.0341	10	0.56958	D	0.05	-2.826	5.2222	0.15375	0.2925:0.1463:0.5612:0.0	.	51	Q8N292	GAPT_HUMAN	N	51	ENSP00000423113:S51N;ENSP00000379997:S51N;ENSP00000422645:S51N;ENSP00000323075:S51N	ENSP00000323075:S51N	S	+	2	0	GAPT	57826272	0.044000	0.20184	0.107000	0.21349	0.270000	0.26580	0.039000	0.13884	-0.152000	0.11156	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1	1	0	1	49	223	0	49	0	8.356598e-01	0	17	0	49	2		0	0	0	0	0	2	1	1	48	221	0	49	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE4D	5144	broad.mit.edu	37	5	58285692	58285692	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58285692G>T	ENST00000340635.6	-	10	1517	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific			15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGAGTCATAAGATATGTAATT	0.333000																								0							SO:0001583	missense			ENST00000340635.6	1	1	hg19	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411307	0.62399	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.5	4.63	0.57726	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.65975	2.015	0.42555	D	0.993127	B;P;P;B;B;P;B;B	0.49783	0.013;0.928;0.897;0.405;0.405;0.897;0.008;0.008	B;D;D;B;B;D;B;B	0.70716	0.059;0.955;0.97;0.34;0.34;0.97;0.031;0.076	T	0.76860	-0.2803	10	0.33940	T	0.23	.	6.4503	0.21900	0.1786:0.1537:0.6677:0.0	.	387;448;384;311;326;318;223;157	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	I	448;317;312;384;146;157;318;326;387;387;146	ENSP00000345502:L448I;ENSP00000353152:L312I;ENSP00000424852:L384I;ENSP00000351800:L146I;ENSP00000321739:L157I;ENSP00000425605:L318I;ENSP00000384806:L326I;ENSP00000423094:L387I;ENSP00000442734:L387I;ENSP00000421013:L146I	ENSP00000321739:L157I	L	-	1	0	PDE4D	58321449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.215000	0.32431	1.523000	0.49018	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3	1	0	0	16	204	0	54	1	4.528423e-01	2	18	0	54	2		0	0	0	0	0	2	1	9.999343e-01	16	200	0	54	2								-6.695791	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.840000	0.500000	1.000000	1.000000	0.832837	0.840000	0	6.600000e-01	1
PDE4D	5144	broad.mit.edu	37	5	58511691	58511691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58511691G>A	ENST00000340635.6	-	2	734	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific			15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GACTCCCGTCGTTGACTGTGG	0.517000																								0							SO:0001587	stop_gained			ENST00000340635.6	0	1	hg19	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	44	10.868730	0.99481	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	.	.	.	4.66	3.8	0.43715	.	0.284954	0.32548	N	0.005949	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.142	0.31089	0.0804:0.0:0.7639:0.1557	.	.	.	.	X	187;56;51;123;57;65;126;126;123	.	ENSP00000308485:R123X	R	-	1	2	PDE4D	58547448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.286000	0.72665	1.090000	0.41315	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3	0	0	1	57	267	1	56	1	4.290641e-01	3	5	1	56	2		0	0	0	0	0	2	1	9.999992e-01	57	264	1	56	19								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEPDC1B	55789	broad.mit.edu	37	5	59940639	59940639	+	Silent	SNP	C	C	T	rs141096982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59940639C>T	ENST00000265036.5	-	5	709	c.642G>A	c.(640-642)tcG>tcA	p.S214S	DEPDC1B_ENST00000453022.2_Silent_p.S214S|DEPDC1B_ENST00000545085.1_Silent_p.S187S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B			17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)			TGATGAACTTCGAATTGACAA	0.303000																								0							SO:0001819	synonymous_variant			ENST00000265036.5	1	1	hg19	CCDS3977.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	1	0	1	37	200	0	35	1	8.579416e-01	6	15	0	35	2		0	0	0	0	0	2	1	1	35	198	0	35	2								-19.324140	1	1	121406	17	44	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
ELOVL7	79993	broad.mit.edu	37	5	60053435	60053435	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:60053435A>G	ENST00000508821.1	-	8	851	c.537T>C	c.(535-537)gcT>gcC	p.A179A	ELOVL7_ENST00000505959.1_Silent_p.A166A|ELOVL7_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000425382.1_Silent_p.A179A	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7			9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)			CTACATGTACAGCTGTATTTA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000508821.1	1	1	hg19	CCDS34164.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1	1	0	1	58	233	0	72	1	9.999936e-01	28	46	0	72	2		0	0	0	0	0	2	1	1	58	231	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP72	55722	broad.mit.edu	37	5	619199	619199	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:619199G>A	ENST00000264935.5	+	2	267	c.177G>A	c.(175-177)ttG>ttA	p.L59L	CEP72_ENST00000444221.1_Silent_p.L59L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa			20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		TGAAATCTTTGGATCTCTCGC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000264935.5	0	1	hg19	CCDS34126.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	0	0	0	11	726	0	101	1	7.348130e-02	3	24	0	101	2		0	0	0	0	0	2	1	9.981977e-01	11	715	0	101	2								-2.320898	0	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.170000	0.090000	0.300000	0.170000	0.186747	0.170000	0	1.200000e-01	2.400000e-01
HTR1A	3350	broad.mit.edu	37	5	63256399	63256399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256399G>A	ENST00000323865.3	-	1	1381	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled			56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ATTGATTATGGCGCCCAACAG	0.507000																								0							SO:0001583	missense			ENST00000323865.3	1	1	hg19	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782245	0.70222	.	.	ENSG00000178394	ENST00000323865	T	0.36157	1.27	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.114707	0.64402	D	0.000018	T	0.45776	0.1359	L	0.43152	1.355	0.51233	D	0.999912	P	0.51537	0.946	P	0.55667	0.781	T	0.31308	-0.9948	10	0.54805	T	0.06	.	13.7557	0.62935	0.0:0.0:0.8465:0.1535	.	383	P08908	5HT1A_HUMAN	V	383	ENSP00000316244:A383V	ENSP00000316244:A383V	A	-	2	0	HTR1A	63292155	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.390000	0.44416	2.692000	0.91855	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	1	0	1	209	1068	0	221	0	0	0	1	0	221	2		0	0	0	0	0	2	1	1	207	1054	0	220	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTR1A	3350	broad.mit.edu	37	5	63256774	63256774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256774G>A	ENST00000323865.3	-	1	1006	c.773C>T	c.(772-774)tCg>tTg	p.S258L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	p.S258L(1)		56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTGCTCCCCGACTCTCCATT	0.657000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000323865.3	1	1	hg19	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	0.413	-0.912302	0.02415	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.17	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.421461	0.25566	N	0.029793	T	0.42154	0.1190	N	0.25245	0.725	0.22541	N	0.999003	B	0.02656	0.0	B	0.04013	0.001	T	0.19582	-1.0301	10	0.26408	T	0.33	.	7.3854	0.26880	0.1445:0.0:0.72:0.1355	.	258	P08908	5HT1A_HUMAN	L	258	ENSP00000316244:S258L	ENSP00000316244:S258L	S	-	2	0	HTR1A	63292530	0.553000	0.26513	0.001000	0.08648	0.010000	0.07245	2.917000	0.48821	0.349000	0.23975	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	1	0	1	108	469	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	1	106	458	0	116	2								-2.100776	0	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED10	84246	broad.mit.edu	37	5	6372625	6372625	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6372625C>T	ENST00000255764.3	-	4	509	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10			5					GTTAAGAAGGCGGGTGATCCT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000255764.3	1	1	hg19	CCDS34134.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	1	0	1	39	312	0	90	1	1	46	182	0	90	2		0	0	0	0	0	2	1	1	39	306	0	88	2								-3.221886	1	1	121412	3	35	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.930000	1.000000	1.000000	0.996279	0.990000	1	9.900000e-01	1
MED10	84246	broad.mit.edu	37	5	6378502	6378502	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6378502C>T	ENST00000255764.3	-	1	205	c.95G>A	c.(94-96)aGc>aAc	p.S32N		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10			5					GGCCTGGCTGCTGGGCTGGAA	0.647000																								0							SO:0001583	missense			ENST00000255764.3	1	1	hg19	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299068	0.95574	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.11	5.11	0.69529	.	0.035738	0.85682	D	0.000000	T	0.42291	0.1196	L	0.31207	0.915	0.80722	D	1	P	0.47841	0.901	B	0.41374	0.355	T	0.24835	-1.0149	9	0.19147	T	0.46	-17.8345	17.5168	0.87776	0.0:1.0:0.0:0.0	.	32	Q9BTT4	MED10_HUMAN	N	32	.	ENSP00000255764:S32N	S	-	2	0	MED10	6431502	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.867000	0.75511	2.389000	0.81357	0.484000	0.47621	AGC		TCGA-IB-7651-01A-11D-2154-08	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	1	0	1	32	112	0	19	1	1	42	125	0	19	2		0	0	0	0	0	2	1	1	32	110	0	18	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CEP72	55722	broad.mit.edu	37	5	639260	639260	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:639260G>A	ENST00000264935.5	+	8	1353	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa			20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		TGCAGGCGGCGCTCCTGGAGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000264935.5	1	1	hg19	CCDS34126.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	0	0	0	18	425	0	63	0	1.496188e-01	1	15	0	63	2		0	0	0	0	0	2	1	9.999810e-01	18	420	0	63	2								-17.570910	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.470000	0.290000	0.700000	0.470000	0.488647	0.470000	0	3.700000e-01	5.900000e-01
CWC27	10283	broad.mit.edu	37	5	64081400	64081400	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64081400C>T	ENST00000381070.3	+	5	706	c.489C>T	c.(487-489)agC>agT	p.S163S	CWC27_ENST00000508024.1_Silent_p.S163S	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)			21					AAATAAAAAGCTGTGAGGTAG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000381070.3	1	1	hg19	CCDS3982.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	0	0	1	81	343	1	79	1	9.966410e-01	14	53	1	79	5		0	0	0	0	0	2	1	1	77	338	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CWC27	10283	broad.mit.edu	37	5	64084809	64084809	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64084809G>A	ENST00000381070.3	+	7	848	c.631G>A	c.(631-633)Gct>Act	p.A211T	CWC27_ENST00000508024.1_Missense_Mutation_p.A211T	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)			21					TGGAGAGGAAGCTGAGGAAGA	0.308000																								0							SO:0001583	missense			ENST00000381070.3	1	1	hg19	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	34	5.336438	0.95758	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.26660	1.72;1.76	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.973;0.998;0.996	T	0.52503	-0.8567	10	0.51188	T	0.08	.	18.3774	0.90440	0.0:0.0:1.0:0.0	.	211;211;211;211	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	T	211	ENSP00000370460:A211T;ENSP00000426802:A211T	ENSP00000370460:A211T	A	+	1	0	CWC27	64120565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	2.736000	0.93811	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	1	0	1	44	258	0	59	1	9.999914e-01	29	76	0	59	2		0	0	0	0	0	2	1	1	43	252	0	58	2								-20.000000	1	1	121408	1	28	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
ADAMTS6	11174	broad.mit.edu	37	5	64766794	64766794	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64766794G>T	ENST00000536360.1	-	3	1086	c.273C>A	c.(271-273)gcC>gcA	p.A91A				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6			18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)			GCTTGCCATAGGCTGAAAGTT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000536360.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	80	329	0	83	0	1.019083e-01	1	2	0	83	2		0	0	0	0	0	2	1	1	78	328	0	83	2								-3.211690	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPWD1	23398	broad.mit.edu	37	5	64863418	64863418	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64863418T>G	ENST00000261308.5	+	2	347	c.275T>G	c.(274-276)gTt>gGt	p.V92G	PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G|PPWD1_ENST00000538977.1_Intron	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1			19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)			CATAGAGATGTTATCACCCAT	0.328000																								0							SO:0001583	missense			ENST00000261308.5	1	1	hg19	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227554	0.79576	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000505380	T;T;T	0.62364	0.03;0.03;0.31	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054812	0.64402	D	0.000001	T	0.80449	0.4625	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.66716	0.878;0.946	T	0.81138	-0.1069	10	0.33940	T	0.23	.	15.8173	0.78612	0.0:0.0:0.0:1.0	.	62;92	F5H7P7;Q96BP3	.;PPWD1_HUMAN	G	92;62;11	ENSP00000261308:V92G;ENSP00000442371:V62G;ENSP00000423234:V11G	ENSP00000261308:V92G	V	+	2	0	PPWD1	64899174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.266000	0.72540	2.151000	0.67156	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	1	0	1	45	206	0	36	1	9.999179e-01	14	54	0	36	2		0	0	0	0	0	2	1	1	43	203	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLN	57486	broad.mit.edu	37	5	65084251	65084251	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65084251C>A	ENST00000380985.5	+	8	1443	c.1265C>A	c.(1264-1266)aCt>aAt	p.T422N	NLN_ENST00000502464.1_Missense_Mutation_p.T318N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)			26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)			ACACTTTATACTGTGAAGGAT	0.433000																								0							SO:0001583	missense			ENST00000380985.5	1	1	hg19	CCDS3989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.865090|2.865090	0.51482|0.51482	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299|ENST00000509935	T;T;T|.	0.10573|.	2.86;2.86;2.86|.	6.07|6.07	4.25|4.25	0.50352|0.50352	Metallopeptidase, catalytic domain (1);|.	0.227351|.	0.46758|.	N|.	0.000270|.	T|.	0.33673|.	0.0871|.	N|N	0.04820|0.04820	-0.15|-0.15	0.46185|0.46185	D|D	0.998912|0.998912	B;B;B|.	0.21753|.	0.06;0.002;0.026|.	B;B;B|.	0.23150|.	0.042;0.017;0.044|.	T|.	0.15321|.	-1.0441|.	10|.	0.37606|.	T|.	0.19|.	-9.5094|-9.5094	11.6743|11.6743	0.51422|0.51422	0.1232:0.8122:0.0:0.0646|0.1232:0.8122:0.0:0.0646	.|.	117;422;422|.	Q96K48;Q9BYT8;Q9BQD0|.	.;NEUL_HUMAN;.|.	N|X	422;318;422;150|18	ENSP00000370372:T422N;ENSP00000423214:T318N;ENSP00000427417:T150N|.	ENSP00000339283:T422N|.	T|Y	+|+	2|3	0|2	NLN|NLN	65120007|65120007	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.769000|3.769000	0.55303|0.55303	1.535000|1.535000	0.49220|0.49220	0.655000|0.655000	0.94253|0.94253	ACT|TAC		TCGA-IB-7651-01A-11D-2154-08	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1	0	0	0	27	1298	0	243	0	3.523451e-01	1	58	0	243	2		0	0	0	0	0	2	1	9.999999e-01	27	1261	0	241	2								-2.753319	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.230000	0.150000	0.330000	0.240000	0.243452	0.230000	0	1.900000e-01	2.900000e-01
CEP72	55722	broad.mit.edu	37	5	653215	653215	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:653215A>G	ENST00000264935.5	+	12	1981	c.1891A>G	c.(1891-1893)Atg>Gtg	p.M631V	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa			20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		CAAGAAGACCATGGCCCTGTT	0.612000																								0							SO:0001583	missense			ENST00000264935.5	1	1	hg19	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	A	1.946	-0.442362	0.04604	.	.	ENSG00000112877	ENST00000264935	T	0.09445	2.98	4.94	-5.89	0.02282	.	0.697067	0.13278	N	0.400000	T	0.06050	0.0157	L	0.33485	1.01	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31336	-0.9947	10	0.30078	T	0.28	-4.3171	6.7257	0.23355	0.2447:0.4177:0.3375:0.0	.	631	Q9P209	CEP72_HUMAN	V	631	ENSP00000264935:M631V	ENSP00000264935:M631V	M	+	1	0	CEP72	706215	0.000000	0.05858	0.068000	0.19968	0.061000	0.15899	-1.330000	0.02675	-1.005000	0.03417	-0.425000	0.05940	ATG		TCGA-IB-7651-01A-11D-2154-08	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	1	0	1	26	183	0	45	1	9.565154e-01	14	25	0	45	2		0	0	0	0	0	2	1	9.999999e-01	26	179	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.960000	1.000000	1.000000	0.997345	0.990000	1	9.900000e-01	1
ERBB2IP	55914	broad.mit.edu	37	5	65324108	65324108	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65324108G>T	ENST00000284037.5	+	14	1532	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein			36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)			ACAGATTAAAGAATTTACCCT	0.303000																								0							SO:0001583	missense			ENST00000284037.5	1	1	hg19	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119212	0.56505	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;2.32;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.65	3.78	0.43462	.	0.134464	0.64402	D	0.000002	T	0.60117	0.2244	N	0.20357	0.565	0.44890	D	0.997901	P;P;P;P;D;D;P;D	0.89917	0.624;0.915;0.627;0.931;1.0;0.991;0.593;1.0	B;P;B;P;D;P;B;D	0.91635	0.42;0.763;0.348;0.848;0.999;0.864;0.295;0.997	T	0.62025	-0.6941	10	0.72032	D	0.01	.	10.39	0.44162	0.221:0.0:0.779:0.0	.	381;381;381;381;381;381;381;381	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	N	381	ENSP00000284037:K381N;ENSP00000370330:K381N;ENSP00000397833:K381N;ENSP00000370326:K381N;ENSP00000370323:K381N;ENSP00000370322:K381N;ENSP00000370325:K381N;ENSP00000422766:K381N;ENSP00000426632:K381N;ENSP00000422015:K381N	ENSP00000284037:K381N	K	+	3	2	ERBB2IP	65359864	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.542000	0.60677	0.662000	0.31006	-0.244000	0.11960	AAG		TCGA-IB-7651-01A-11D-2154-08	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	1	0	1	17	142	0	28	1	9.976326e-01	10	76	0	28	2		0	0	0	0	0	2	1	9.999729e-01	17	141	0	27	2								-3.222377	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.750000	1.000000	1.000000	0.977102	0.990000	1	9.600000e-01	1
ERBB2IP	55914	broad.mit.edu	37	5	65350624	65350624	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65350624A>C	ENST00000284037.5	+	21	3867	c.3478A>C	c.(3478-3480)Agt>Cgt	p.S1160R	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein			36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)			TATGTCAGTTAGTGATTTCAA	0.403000																								0							SO:0001583	missense			ENST00000284037.5	1	1	hg19	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.82|16.82	3.227621|3.227621	0.58668|0.58668	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|.	0.54866|.	0.91;0.9;0.91;0.97;0.55;0.88;0.89;0.8;0.55|.	5.57|5.57	3.18|3.18	0.36537|0.36537	.|.	0.229431|.	0.51477|.	D|.	0.000089|.	T|.	0.54743|.	0.1877|.	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D;D;D;D|.	0.69078|.	0.997;0.987;0.977;0.96;0.966;0.997;0.987|.	D;P;P;P;P;D;P|.	0.69479|.	0.964;0.878;0.905;0.762;0.641;0.964;0.88|.	T|.	0.48163|.	-0.9059|.	10|.	0.72032|.	D|.	0.01|.	.|.	8.0592|8.0592	0.30623|0.30623	0.7924:0.1371:0.0705:0.0|0.7924:0.1371:0.0705:0.0	.|.	1160;1160;1160;1156;1160;1160;1160|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	R|S	1160;1160;1160;1160;1160;1160;1156;1160;1160|55	ENSP00000284037:S1160R;ENSP00000370330:S1160R;ENSP00000370326:S1160R;ENSP00000370323:S1160R;ENSP00000370322:S1160R;ENSP00000370325:S1160R;ENSP00000422766:S1156R;ENSP00000426632:S1160R;ENSP00000422015:S1160R|.	ENSP00000284037:S1160R|.	S|X	+|+	1|2	0|0	ERBB2IP|ERBB2IP	65386380|65386380	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	6.857000|6.857000	0.75455|0.75455	0.922000|0.922000	0.37019|0.37019	0.528000|0.528000	0.53228|0.53228	AGT|TAG		TCGA-IB-7651-01A-11D-2154-08	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	1	0	1	61	227	0	55	1	1	34	83	0	55	2		0	0	0	0	0	2	1	1	60	226	0	54	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB2IP	55914	broad.mit.edu	37	5	65371060	65371060	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65371060T>C	ENST00000284037.5	+	23	4352		c.e23+2		ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein			36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)			AAACAAGAGGTAAGAATAATC	0.348000																								0							SO:0001630	splice_region_variant			ENST00000284037.5	1	1	hg19	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405358	0.62288	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030	.	.	.	5.57	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0104	0.53284	0.1291:0.0:0.0:0.8709	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2IP	65406816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.113000	0.64589	0.528000	0.53228	.		TCGA-IB-7651-01A-11D-2154-08	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	1	0	0	91	373	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	87	363	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NSUN2	54888	broad.mit.edu	37	5	6604331	6604331	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6604331T>G	ENST00000264670.6	-	17	2188	c.1877A>C	c.(1876-1878)gAt>gCt	p.D626A	NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A|NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2			41					TATCTTAACATCTTCCATTGA	0.363000																								0							SO:0001583	missense			ENST00000264670.6	1	1	hg19	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407983	0.83340	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.64438	-0.1;-0.1;-0.1	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.996	T	0.81623	-0.0849	10	0.15952	T	0.53	-52.9141	16.3668	0.83335	0.0:0.0:0.0:1.0	.	591;626;626	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	A	626;390;591	ENSP00000264670:D626A;ENSP00000444338:D390A;ENSP00000420957:D591A	ENSP00000264670:D626A	D	-	2	0	NSUN2	6657331	1.000000	0.71417	0.952000	0.39060	0.677000	0.39632	6.985000	0.76193	2.322000	0.78497	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	1	0	1	41	195	0	48	1	1	44	87	0	48	2		0	0	0	0	0	2	1	1	41	191	0	48	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66084525	66084525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084525C>T	ENST00000403625.2	+	3	840	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MAST4_ENST00000406039.1_Missense_Mutation_p.A182V|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V|MAST4_ENST00000404260.3_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			AACCCGGTGGCGGGACAGGCC	0.627000																								0							SO:0001583	missense			ENST00000403625.2	1	1	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.513808|4.513808	0.85389|0.85389	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817|ENST00000452953	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;1.47;1.48;0.94|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.452872|.	0.18800|.	N|.	0.130812|.	T|T	0.39759|0.39759	0.1090|0.1090	L|L	0.27053|0.27053	0.805|0.805	0.22666|0.22666	N|N	0.998873|0.998873	D;D|.	0.69078|.	0.997;0.991|.	P;P|.	0.56648|.	0.803;0.481|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.66056|.	D|.	0.02|.	.|.	15.9813|15.9813	0.80111|0.80111	0.0:0.8651:0.1349:0.0|0.0:0.8651:0.1349:0.0	.|.	182;182|.	E7EX28;O15021-4|.	.;.|.	V|W	182;182;182;182;54|55	ENSP00000385048:A182V;ENSP00000385727:A182V;ENSP00000385088:A182V;ENSP00000384547:A182V;ENSP00000413573:A54V|.	ENSP00000385727:A182V|.	A|R	+|+	2|1	0|2	MAST4|MAST4	66120281|66120281	0.494000|0.494000	0.26043|0.26043	0.021000|0.021000	0.16686|0.16686	0.722000|0.722000	0.41435|0.41435	2.684000|2.684000	0.46951|0.46951	2.677000|2.677000	0.91161|0.91161	0.557000|0.557000	0.71058|0.71058	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	43	244	0	39	1	1.136764e-01	3	1	0	39	2		0	0	0	0	0	2	1	1	42	237	0	37	2								-3.325996	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66084569	66084569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084569C>T	ENST00000403625.2	+	3	884	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	MAST4_ENST00000406039.1_Missense_Mutation_p.R197C|MAST4_ENST00000406374.1_Missense_Mutation_p.R197C|MAST4_ENST00000404260.3_Missense_Mutation_p.R197C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			CAACCTCGTGCGCATGCGCAG	0.657000																								0							SO:0001583	missense			ENST00000403625.2	1	1	hg19	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553642	0.96501	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817;ENST00000434115	T;T;T;T;T	0.80304	-1.33;-1.36;-0.16;-0.03;-0.42	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	D	0.89019	0.6596	M	0.62723	1.935	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89396	0.3692	10	0.87932	D	0	.	19.3639	0.94454	0.0:1.0:0.0:0.0	.	197;197	E7EX28;O15021-4	.;.	C	197;197;197;197;69;4	ENSP00000385048:R197C;ENSP00000385727:R197C;ENSP00000385088:R197C;ENSP00000384547:R197C;ENSP00000413573:R69C	ENSP00000385727:R197C	R	+	1	0	MAST4	66120325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.677000	0.91161	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	34	188	0	28	0	2.477876e-02	0	2	0	28	2		0	0	0	0	0	2	1	1	32	186	0	28	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999948	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66432472	66432472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66432472C>T	ENST00000403625.2	+	19	2769	c.2474C>T	c.(2473-2475)cCc>cTc	p.P825L	MAST4_ENST00000403666.1_Missense_Mutation_p.P636L|MAST4_ENST00000405643.1_Missense_Mutation_p.P646L|MAST4_ENST00000404260.3_Missense_Mutation_p.P828L|MAST4_ENST00000261569.7_Missense_Mutation_p.P631L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			AGGCAGAATCCCCTGGAGAGG	0.458000																								0							SO:0001583	missense			ENST00000403625.2	0	1	hg19	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361532	0.95877	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	H	0.95114	3.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.99;0.999;0.997;0.986	T	0.81395	-0.0952	10	0.87932	D	0	-25.2234	20.0784	0.97758	0.0:1.0:0.0:0.0	.	646;828;631;636	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	L	828;825;636;646;646;631;631	ENSP00000385048:P828L;ENSP00000385727:P825L;ENSP00000384313:P636L;ENSP00000384099:P646L;ENSP00000261569:P631L	ENSP00000261569:P631L	P	+	2	0	MAST4	66468228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.736000	0.93811	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	0	0	0	8	47	0	13	1	9.012642e-01	13	14	0	13	2		0	0	0	0	0	2	1	9.905174e-01	8	46	0	13	2								-15.480120	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.750000	1.000000	1.000000	0.982468	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66448536	66448536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66448536C>T	ENST00000403625.2	+	25	3662	c.3367C>T	c.(3367-3369)Cga>Tga	p.R1123*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.R1126*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			TTCTTCTTCACGAGATTCCTC	0.522000																								0							SO:0001587	stop_gained			ENST00000403625.2	0	1	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.794146|8.794146	0.98956|0.98956	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399|ENST00000443808	.|.	.|.	.|.	6.17|6.17	3.31|3.31	0.37934|0.37934	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69984	.|0.3172	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72947	.|-0.4137	.|3	0.02654|.	T|.	1|.	-14.7051|-14.7051	15.8853|15.8853	0.79244|0.79244	0.6069:0.3931:0.0:0.0|0.6069:0.3931:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1126;1123;934;944;944;929;862|179	.|.	ENSP00000261569:R929X|.	R|T	+|+	1|2	2|0	MAST4|MAST4	66484292|66484292	0.660000|0.660000	0.27420|0.27420	0.775000|0.775000	0.31657|0.31657	0.995000|0.995000	0.86356|0.86356	1.386000|1.386000	0.34419|0.34419	0.400000|0.400000	0.25396|0.25396	0.655000|0.655000	0.94253|0.94253	CGA|ACG		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	0	0	1	129	634	0	131	0	9.053935e-01	0	22	0	131	2		0	0	0	0	0	2	1	1	125	611	0	128	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66459843	66459843	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66459843C>T	ENST00000403625.2	+	29	5131	c.4836C>T	c.(4834-4836)agC>agT	p.S1612S	MAST4_ENST00000403666.1_Silent_p.S1423S|MAST4_ENST00000405643.1_Silent_p.S1433S|MAST4_ENST00000404260.3_Silent_p.S1615S|MAST4_ENST00000261569.7_Silent_p.S1418S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			AGCAGGCCAGCGTGCGCGCCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000403625.2	0	1	hg19	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.319	0.058585	0.08339	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.95	-0.0499	0.13833	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29731	-1.0002	4	.	.	.	-8.4791	9.1415	0.36906	0.0:0.5281:0.0:0.4719	.	.	.	.	C	669	.	.	R	+	1	0	MAST4	66495599	0.001000	0.12720	0.036000	0.18154	0.503000	0.33858	-0.134000	0.10436	-0.224000	0.09928	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	12	60	0	11	0	7.968346e-01	1	16	0	11	2		0	0	0	0	0	2	1	9.989650e-01	10	56	0	11	2								-19.996380	1	1	120242	12	37	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.960000	1.000000	1.000000	0.996584	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66460375	66460375	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66460375C>T	ENST00000403625.2	+	29	5663	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	MAST4_ENST00000403666.1_Silent_p.L1601L|MAST4_ENST00000405643.1_Silent_p.L1611L|MAST4_ENST00000404260.3_Silent_p.L1793L|MAST4_ENST00000261569.7_Silent_p.L1596L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			CGAGTATAAGCTGGAAGGTAG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000403625.2	1	1	hg19	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927128	0.18056	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.24	3.48	0.39840	.	.	.	.	.	T	0.62109	0.2401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58567	-0.7614	4	.	.	.	-14.6127	11.4824	0.50333	0.0:0.8561:0.0:0.1439	.	.	.	.	V	846	.	.	A	+	2	0	MAST4	66496131	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.782000	0.47758	0.785000	0.33685	-0.136000	0.14681	GCT		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	87	431	0	75	1	9.803186e-01	11	22	0	75	2		0	0	0	0	0	2	1	1	86	421	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66461256	66461256	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461256C>T	ENST00000403625.2	+	29	6544	c.6249C>T	c.(6247-6249)ccC>ccT	p.P2083P	MAST4_ENST00000403666.1_Silent_p.P1894P|MAST4_ENST00000405643.1_Silent_p.P1904P|MAST4_ENST00000404260.3_Silent_p.P2086P|MAST4_ENST00000261569.7_Silent_p.P1889P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			AACCCAAGCCCGAAGCGCTTC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000403625.2	1	1	hg19	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.866	0.160941	0.09287	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.6	-9.2	0.00682	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0454	7.8471	0.29431	0.0:0.2763:0.3432:0.3804	.	.	.	.	X	1140	.	.	R	+	1	2	MAST4	66497012	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.217000	0.00553	-1.397000	0.02068	-1.000000	0.02509	CGA		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	60	256	0	56	1	9.913866e-01	2	32	0	56	2		0	0	0	0	0	2	1	1	60	252	0	55	2								-2.929387	1	1	120918	1	32	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66461635	66461635	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461635C>T	ENST00000403625.2	+	29	6923	c.6628C>T	c.(6628-6630)Cgg>Tgg	p.R2210W	MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2213W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			GCACCCCGACCGGTCCCTCTC	0.647000																								0							SO:0001583	missense			ENST00000403625.2	1	1	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.813212|1.813212	0.32053|0.32053	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.71222	.|-0.53;-0.53;-0.55;-0.55;-0.53	4.86|4.86	1.07|1.07	0.20283|0.20283	.|.	.|0.211736	.|0.32901	.|N	.|0.005507	T|T	0.70692|0.70692	0.3253|0.3253	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|P;P	.|0.59546	.|0.803;0.859	T|T	0.65557|0.65557	-0.6139|-0.6139	5|10	.|0.72032	.|D	.|0.01	-14.3162|-14.3162	11.8586|11.8586	0.52453|0.52453	0.5134:0.4866:0.0:0.0|0.5134:0.4866:0.0:0.0	.|.	.|2213;2021	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|W	1266|2213;2210;2021;2031;2031;2016	.|ENSP00000385048:R2213W;ENSP00000385727:R2210W;ENSP00000384313:R2021W;ENSP00000384099:R2031W;ENSP00000261569:R2016W	.|ENSP00000261569:R2016W	P|R	+|+	2|1	0|2	MAST4|MAST4	66497391|66497391	0.096000|0.096000	0.21769|0.21769	0.586000|0.586000	0.28679|0.28679	0.010000|0.010000	0.07245|0.07245	0.580000|0.580000	0.23803|0.23803	0.034000|0.034000	0.15491|0.15491	-0.397000|-0.397000	0.06425|0.06425	CCG|CGG		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	0	18	98	0	24	1	8.686506e-01	9	13	0	24	2		0	0	0	0	0	2	1	9.999894e-01	18	98	0	23	2								-20.000000	1	1	120724	1	23	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.998796	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66461935	66461935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461935C>T	ENST00000403625.2	+	29	7223	c.6928C>T	c.(6928-6930)Cca>Tca	p.P2310S	MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|MAST4_ENST00000404260.3_Missense_Mutation_p.P2313S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			GCCGGGACACCCAGGGCCTAG	0.602000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000403625.2	1	1	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.32|10.32	1.318213|1.318213	0.23994|0.23994	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.64991	.|-0.1;-0.1;-0.13;-0.12;-0.1	4.62|4.62	2.66|2.66	0.31614|0.31614	.|.	0.910882|0.910882	0.09254|0.09254	N|N	0.827460|0.827460	T|T	0.41166|0.41166	0.1147|0.1147	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25272	.|0.075;0.122	.|B;B	.|0.25291	.|0.027;0.059	T|T	0.29671|0.29671	-1.0004|-1.0004	6|10	.|0.15066	.|T	.|0.55	0.1795|0.1795	2.4979|2.4979	0.04626|0.04626	0.2633:0.4739:0.1624:0.1004|0.2633:0.4739:0.1624:0.1004	.|.	.|2313;2121	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|S	1366|2313;2310;2121;2131;2131;2116	.|ENSP00000385048:P2313S;ENSP00000385727:P2310S;ENSP00000384313:P2121S;ENSP00000384099:P2131S;ENSP00000261569:P2116S	.|ENSP00000261569:P2116S	P|P	+|+	2|1	0|0	MAST4|MAST4	66497691|66497691	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.026000|0.026000	0.11368|0.11368	0.269000|0.269000	0.18589|0.18589	1.159000|1.159000	0.42565|0.42565	0.561000|0.561000	0.74099|0.74099	CCC|CCA		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	0	20	58	0	16	1	9.972844e-01	5	27	0	16	2		0	0	0	0	0	2	1	9.999980e-01	20	56	0	15	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
MAST4	375449	broad.mit.edu	37	5	66462832	66462832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66462832C>T	ENST00000403625.2	+	29	8120	c.7825C>T	c.(7825-7827)Cgg>Tgg	p.R2609W	MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W|MAST4_ENST00000404260.3_Missense_Mutation_p.R2612W|MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			ACGGCAGAGGCGGGGGAAAGA	0.592000																								0							SO:0001583	missense			ENST00000403625.2	1	1	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.335850|4.335850	0.81801|0.81801	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.74632	.|-0.85;-0.85;-0.86;-0.86;-0.83	5.49|5.49	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.48286	.|D	.|0.000196	T|T	0.77870|0.77870	0.4195|0.4195	L|L	0.34521|0.34521	1.04|1.04	0.32490|0.32490	N|N	0.540319|0.540319	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74674	.|0.981;0.984	T|T	0.82303|0.82303	-0.0524|-0.0524	5|10	.|0.87932	.|D	.|0	-19.1121|-19.1121	11.8895|11.8895	0.52620|0.52620	0.1412:0.7306:0.1282:0.0|0.1412:0.7306:0.1282:0.0	.|.	.|2612;2420	.|O15021;O15021-3	.|MAST4_HUMAN;.	V|W	1665|2612;2609;2420;2430;2430;2415	.|ENSP00000385048:R2612W;ENSP00000385727:R2609W;ENSP00000384313:R2420W;ENSP00000384099:R2430W;ENSP00000261569:R2415W	.|ENSP00000261569:R2415W	A|R	+|+	2|1	0|2	MAST4|MAST4	66498588|66498588	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.195000|1.195000	0.32186|0.32186	1.388000|1.388000	0.46506|0.46506	0.561000|0.561000	0.74099|0.74099	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	12	113	0	31	1	5.758407e-01	6	13	0	31	2		0	0	0	0	0	2	1	9.990164e-01	12	107	0	30	2								-2.489768	0	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.610000	1.000000	1.000000	0.941335	0.990000	1	8.300000e-01	1
PAPD7	11044	broad.mit.edu	37	5	6751208	6751208	+	Silent	SNP	G	G	A	rs113180271	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6751208G>A	ENST00000230859.6	+	11	1296	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7			27					GTCTGCAAGCGCCAGCTCCTC	0.532000													NSCLC(7;212 333 5667 23379 46547)											0							SO:0001819	synonymous_variant			ENST00000230859.6	1	0	hg19	CCDS3871.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	0	0	1	122	514	0	111	1	9.999981e-01	13	67	0	111	2		0	0	0	0	0	2	1	1	119	506	0	111	2								-2.247971	0	1	121412	938	64	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3R1	5295	broad.mit.edu	37	5	67575507	67575507	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:67575507C>T	ENST00000521381.1	+	5	1196	c.580C>T	c.(580-582)Cca>Tca	p.P194S	PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	p.0?(1)|p.?(1)		178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		Isoprenaline(DB01064)	CCTGGACTTACCAAATCCTGT	0.413000			Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)					Rec	yes		5	5q13.1	5295	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)		E, O	2	Whole gene deletion(1)|Unknown(1)						SO:0001583	missense			ENST00000521381.1	1	1	hg19	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883408	0.91740	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.51	5.51	0.81932	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.68317	2.08	0.80722	D	1	P	0.46952	0.887	P	0.45753	0.492	T	0.64820	-0.6317	10	0.66056	D	0.02	-12.4678	19.6101	0.95602	0.0:1.0:0.0:0.0	.	194	P27986	P85A_HUMAN	S	194;194;194;194;96	ENSP00000428056:P194S;ENSP00000429277:P194S;ENSP00000379855:P194S;ENSP00000274335:P194S;ENSP00000428566:P96S	ENSP00000274335:P194S	P	+	1	0	PIK3R1	67611263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.102000	0.71486	2.868000	0.98415	0.557000	0.71058	CCA		TCGA-IB-7651-01A-11D-2154-08	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	1	0	1	104	456	0	85	1	1	25	167	0	85	2		0	0	0	0	0	2	1	1	102	451	0	85	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPPP	11076	broad.mit.edu	37	5	677962	677962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:677962G>A	ENST00000360578.5	-	2	335	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein			5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		TTCTTGCCGTGCATCTCCCTC	0.642000																								0							SO:0001583	missense			ENST00000360578.5	1	1	hg19	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.350887	0.61183	.	.	ENSG00000171368	ENST00000360578	T	0.42900	0.96	5.32	5.32	0.75619	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.51422	1.61	0.47862	D	0.999536	D	0.61697	0.99	P	0.62491	0.903	T	0.54820	-0.8236	10	0.54805	T	0.06	-32.1368	13.5508	0.61730	0.0:0.0:0.844:0.156	.	72	O94811	TPPP_HUMAN	Y	72	ENSP00000353785:H72Y	ENSP00000353785:H72Y	H	-	1	0	TPPP	730962	1.000000	0.71417	0.999000	0.59377	0.302000	0.27658	2.600000	0.46240	2.485000	0.83878	0.561000	0.74099	CAC		TCGA-IB-7651-01A-11D-2154-08	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	1	0	1	74	277	0	69	1	8.780820e-01	7	8	0	69	2		0	0	0	0	0	2	1	1	74	272	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPPP	11076	broad.mit.edu	37	5	678080	678080	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:678080C>T	ENST00000360578.5	-	2	217	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein			5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		CCGATTCCAGCGACAGCCTCT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000360578.5	0	1	hg19	CCDS3856.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	1	0	1	21	132	0	22	1	1.014853e-01	4	0	0	22	2		0	0	0	0	0	2	1	9.999983e-01	20	131	0	22	2								-11.792690	1	1	121050	22	38	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.998068	0.990000	1	9.900000e-01	1
MRPS36	92259	broad.mit.edu	37	5	68524042	68524042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524042G>T	ENST00000256441.4	+	3	192	c.122G>T	c.(121-123)aGa>aTa	p.R41I	MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36			7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)			GAAGCTTTGAGATCAGCAGGG	0.338000																								0							SO:0001583	missense			ENST00000256441.4	1	1	hg19	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927759	0.52759	.	.	ENSG00000134056	ENST00000256441	.	.	.	5.49	4.43	0.53597	.	0.250556	0.36854	N	0.002374	T	0.42607	0.1210	L	0.29908	0.895	0.53688	D	0.999973	P	0.36249	0.545	B	0.41988	0.372	T	0.42327	-0.9458	9	0.62326	D	0.03	-2.6775	7.3681	0.26785	0.2318:0.0:0.7682:0.0	.	41	P82909	RT36_HUMAN	I	41	.	ENSP00000256441:R41I	R	+	2	0	MRPS36	68559798	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.502000	0.45398	2.575000	0.86900	0.460000	0.39030	AGA		TCGA-IB-7651-01A-11D-2154-08	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	1	0	1	43	231	0	36	1	1	138	332	0	36	2		0	0	0	0	0	2	1	1	43	227	0	35	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
MRPS36	92259	broad.mit.edu	37	5	68524106	68524106	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524106A>G	ENST00000256441.4	+	3	256	c.186A>G	c.(184-186)ccA>ccG	p.P62P	MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36			7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)			GTAAATCACCAGATTTGCTGA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000256441.4	1	1	hg19	CCDS34174.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	0	0	1	84	352	1	74	1	1	148	306	1	74	20		0	0	0	0	0	2	1	1	85	346	1	74	19								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK7	1022	broad.mit.edu	37	5	68572463	68572463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68572463C>T	ENST00000256443.3	+	11	1061	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	CDK7_ENST00000502604.1_Nonsense_Mutation_p.Q227*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7			3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)			CTTAAAGGAGCAATCAAATCC	0.388000								Nucleotide excision repair (NER)																0							SO:0001587	stop_gained			ENST00000256443.3	0	1	hg19	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216077	0.95104	.	.	ENSG00000134058	ENST00000256443;ENST00000514676;ENST00000502604	.	.	.	5.3	4.42	0.53409	.	0.303860	0.36134	N	0.002778	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.6503	0.56757	0.0:0.9178:0.0:0.0822	.	.	.	.	X	320;283;227	.	ENSP00000256443:Q320X	Q	+	1	0	CDK7	68608219	0.942000	0.31987	0.776000	0.31678	0.294000	0.27393	2.565000	0.45939	2.636000	0.89361	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	1	0	1	48	252	0	63	1	1	22	176	0	63	2		0	0	0	0	0	2	1	1	47	248	0	63	2								-19.999980	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
BDP1	55814	broad.mit.edu	37	5	70785502	70785502	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70785502A>C	ENST00000358731.4	+	10	1748	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB			72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)			AAGGAGAAAAACACAAGAGTA	0.348000																								0							SO:0001583	missense			ENST00000358731.4	1	1	hg19	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240903	0.39598	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.41758	0.99	5.26	-1.7	0.08159	.	0.086814	0.49305	D	0.000147	T	0.43897	0.1268	L	0.54323	1.7	0.35443	D	0.795076	B;D;D	0.69078	0.09;0.997;0.996	B;P;P	0.62184	0.027;0.899;0.866	T	0.51513	-0.8696	10	0.23891	T	0.37	.	4.4018	0.11390	0.3442:0.3507:0.3052:0.0	.	495;495;495	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	495;495;75;495	ENSP00000351575:K495N	ENSP00000351575:K495N	K	+	3	2	BDP1	70821258	0.015000	0.18098	0.323000	0.25347	0.328000	0.28507	-0.222000	0.09190	0.032000	0.15435	0.379000	0.24179	AAA		TCGA-IB-7651-01A-11D-2154-08	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	0	0	1	54	284	0	75	1	9.304696e-01	6	20	0	75	2		0	0	0	0	0	2	1	1	53	277	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BDP1	55814	broad.mit.edu	37	5	70793140	70793140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70793140C>T	ENST00000358731.4	+	13	2106	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB			72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)			GTTGAGAGGTCGCTTCCAAAG	0.358000																								0							SO:0001583	missense			ENST00000358731.4	1	1	hg19	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517347	0.13005	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.11385	2.78	5.05	4.18	0.49190	.	0.695259	0.14689	N	0.304260	T	0.12433	0.0302	L	0.54323	1.7	0.80722	D	1	B;B;B	0.18610	0.029;0.015;0.009	B;B;B	0.15052	0.012;0.006;0.009	T	0.02844	-1.1103	10	0.51188	T	0.08	.	10.0523	0.42223	0.0:0.9053:0.0:0.0947	.	615;615;615	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	C	615;615;195;615	ENSP00000351575:R615C	ENSP00000351575:R615C	R	+	1	0	BDP1	70828896	0.997000	0.39634	0.928000	0.36995	0.031000	0.12232	2.288000	0.43514	1.270000	0.44297	-0.189000	0.12847	CGC		TCGA-IB-7651-01A-11D-2154-08	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	1	0	1	71	303	0	58	1	9.466753e-01	8	15	0	58	2		0	0	0	0	0	2	1	1	68	298	0	58	2								-3.316272	1	1	120804	1	29	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BDP1	55814	broad.mit.edu	37	5	70806004	70806004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70806004A>G	ENST00000358731.4	+	17	3348	c.3085A>G	c.(3085-3087)Att>Gtt	p.I1029V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB			72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)			ACCAGAGGTGATTGATGCTAC	0.463000																								0							SO:0001583	missense			ENST00000358731.4	1	1	hg19	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	a	4.020	0.001130	0.07819	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.16073	2.37	3.49	-0.314	0.12750	.	2.027030	0.03609	U	0.234518	T	0.08088	0.0202	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.14012	0.003;0.009;0.009	B;B;B	0.11329	0.003;0.006;0.002	T	0.24977	-1.0145	10	0.10377	T	0.69	.	2.3315	0.04237	0.5163:0.0:0.2502:0.2335	.	1029;1029;1029	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	1029;609	ENSP00000351575:I1029V	ENSP00000351575:I1029V	I	+	1	0	BDP1	70841760	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.139000	0.10358	-0.058000	0.13177	0.260000	0.18958	ATT		TCGA-IB-7651-01A-11D-2154-08	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	1	0	1	95	421	0	120	1	9.964517e-01	12	26	0	120	2		0	0	0	0	0	2	1	1	93	415	0	119	2								-20.000000	1	1	120804	3	36	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCCC2	64087	broad.mit.edu	37	5	70939654	70939654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70939654C>T	ENST00000340941.6	+	12	1210	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)			30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		Biotin(DB00121)	AGGATTTGCTCGAATATTTGG	0.338000																								0							SO:0001587	stop_gained			ENST00000340941.6	0	1	hg19	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	36	5.686458	0.96784	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	.	.	.	5.65	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4798	11.3076	0.49345	0.5398:0.4602:0.0:0.0	.	.	.	.	X	361;323;133	.	ENSP00000327308:R323X	R	+	1	2	MCCC2	70975410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.808000	0.47963	1.163000	0.42636	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4	1	0	1	112	523	0	127	1	9.999999e-01	4	103	0	127	2		0	0	0	0	0	2	1	1	110	517	0	126	2								-3.350723	1	1	121412	1	30	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCCC2	64087	broad.mit.edu	37	5	70948515	70948515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70948515C>T	ENST00000340941.6	+	16	1637	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)			30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		Biotin(DB00121)	GCTGATGAAGCGGCTTTAAAA	0.443000																								0							SO:0001583	missense			ENST00000340941.6	1	1	hg19	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123269	0.56613	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.97710	-3.26;-3.26;-4.5	5.44	5.44	0.79542	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.107337	0.64402	D	0.000007	D	0.95968	0.8687	M	0.68317	2.08	0.58432	D	0.999997	B	0.31413	0.322	B	0.19391	0.025	D	0.94985	0.8129	10	0.62326	D	0.03	-14.0895	13.6461	0.62281	0.1555:0.8445:0.0:0.0	.	503	Q9HCC0	MCCB_HUMAN	V	503;465;275	ENSP00000343657:A503V;ENSP00000327308:A465V;ENSP00000425474:A275V	ENSP00000327308:A465V	A	+	2	0	MCCC2	70984271	0.999000	0.42202	0.978000	0.43139	0.977000	0.68977	3.682000	0.54656	2.556000	0.86216	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4	1	0	1	24	152	0	41	1	9.999996e-01	96	71	0	41	2		0	0	0	0	0	2	1	9.999998e-01	23	150	0	40	2								-13.079660	1	1	121412	2	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999263	0.990000	1	9.900000e-01	1
CARTPT	9607	broad.mit.edu	37	5	71015722	71015722	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71015722G>A	ENST00000296777.4	+	2	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide			4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		Amphetamine(DB00182)	AGCGCTGCAAGAAGTCTTGAA	0.537000																								0							SO:0001583	missense			ENST00000296777.4	1	1	hg19	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168013	0.94768	.	.	ENSG00000164326	ENST00000296777	T	0.58797	0.31	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.74917	-0.3501	10	0.66056	D	0.02	.	17.1015	0.86651	0.0:0.0:1.0:0.0	.	59	Q16568	CART_HUMAN	K	59	ENSP00000296777:E59K	ENSP00000296777:E59K	E	+	1	0	CARTPT	71051478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.966000	0.93397	2.340000	0.79590	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	1	0	1	69	336	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	68	333	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1B	4131	broad.mit.edu	37	5	71490172	71490172	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490172G>A	ENST00000296755.7	+	5	1288	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B			104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)			AAATTGCAGAGCTCGAGGAAG	0.473000													Melanoma(17;367 822 11631 31730 47712)											0							SO:0001819	synonymous_variant			ENST00000296755.7	1	1	hg19	CCDS4012.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	0	63	278	0	56	1	9.999590e-01	23	45	0	56	2		0	0	0	0	0	2	1	1	63	275	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1B	4131	broad.mit.edu	37	5	71490541	71490541	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490541G>A	ENST00000296755.7	+	5	1657	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B			104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)			AATTCATTCTGCCTAATGGTC	0.433000													Melanoma(17;367 822 11631 31730 47712)											0							SO:0001819	synonymous_variant			ENST00000296755.7	1	1	hg19	CCDS4012.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1	79	393	0	80	1	9.999947e-01	24	65	0	80	2		0	0	0	0	0	2	1	1	76	387	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1B	4131	broad.mit.edu	37	5	71491850	71491850	+	Missense_Mutation	SNP	G	G	A	rs139604402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71491850G>A	ENST00000296755.7	+	5	2966	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B			104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)			AGGTCCTGCCGAGTCCCCTGA	0.542000													Melanoma(17;367 822 11631 31730 47712)											0							SO:0001583	missense			ENST00000296755.7	1	1	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861569	0.91433	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03920	3.76	5.44	5.44	0.79542	.	0.187730	0.37761	N	0.001952	T	0.10121	0.0248	L	0.52573	1.65	0.80722	D	1	D;D	0.56521	0.976;0.957	P;B	0.46275	0.51;0.267	T	0.01269	-1.1400	10	0.66056	D	0.02	-21.0008	19.2467	0.93905	0.0:0.0:1.0:0.0	.	764;890	A2BDK6;P46821	.;MAP1B_HUMAN	K	890	ENSP00000296755:E890K	ENSP00000296755:E890K	E	+	1	0	MAP1B	71527606	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	8.012000	0.88631	2.557000	0.86248	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1	143	633	0	149	1	9.999998e-01	22	75	0	149	2		0	0	0	0	0	2	1	1	140	617	0	146	2								-3.288701	1	1	121412	2	39	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1B	4131	broad.mit.edu	37	5	71492907	71492907	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71492907G>A	ENST00000296755.7	+	5	4023	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B			104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)			ATCAAAGATAGCATCTCAGCT	0.502000													Melanoma(17;367 822 11631 31730 47712)											0							SO:0001583	missense			ENST00000296755.7	1	1	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	6.591	0.477422	0.12521	.	.	ENSG00000131711	ENST00000296755	T	0.03212	4.01	5.42	2.52	0.30459	.	0.507002	0.19548	N	0.111629	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.004	T	0.46925	-0.9156	10	0.27785	T	0.31	-2.3124	5.2439	0.15487	0.215:0.4979:0.2178:0.0693	.	1116;1242	A2BDK6;P46821	.;MAP1B_HUMAN	N	1242	ENSP00000296755:S1242N	ENSP00000296755:S1242N	S	+	2	0	MAP1B	71528663	0.000000	0.05858	0.002000	0.10522	0.073000	0.16967	-0.428000	0.06991	0.680000	0.31366	-0.120000	0.15030	AGC		TCGA-IB-7651-01A-11D-2154-08	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1	49	300	0	69	1	9.999799e-01	20	80	0	69	2		0	0	0	0	0	2	1	1	49	289	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
MAP1B	4131	broad.mit.edu	37	5	71495076	71495076	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495076G>T	ENST00000296755.7	+	5	6192	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B			104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)			AAGACCACCAGCCCCCCCGAA	0.483000													Melanoma(17;367 822 11631 31730 47712)											0							SO:0001583	missense			ENST00000296755.7	1	0	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737388	0.30774	.	.	ENSG00000131711	ENST00000296755	T	0.03441	3.93	4.98	4.98	0.66077	.	0.086406	0.49305	D	0.000159	T	0.03178	0.0093	N	0.08118	0	0.26955	N	0.965932	B;B	0.28350	0.208;0.044	B;B	0.31390	0.029;0.129	T	0.44817	-0.9303	10	0.46703	T	0.11	-10.5107	16.432	0.83847	0.0:0.0:1.0:0.0	.	1839;1965	A2BDK6;P46821	.;MAP1B_HUMAN	I	1965	ENSP00000296755:S1965I	ENSP00000296755:S1965I	S	+	2	0	MAP1B	71530832	0.003000	0.15002	0.641000	0.29422	0.268000	0.26511	0.619000	0.24388	2.312000	0.78011	0.448000	0.29417	AGC		TCGA-IB-7651-01A-11D-2154-08	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1	94	461	0	101	1	9.999999e-01	29	84	0	101	2		0	0	0	0	0	2	1	1	93	449	0	101	2								-1.230194	0	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1B	4131	broad.mit.edu	37	5	71495341	71495341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495341G>T	ENST00000296755.7	+	5	6457	c.6159G>T	c.(6157-6159)caG>caT	p.Q2053H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B			104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)			GAACCCCTCAGGCATCCACAT	0.468000													Melanoma(17;367 822 11631 31730 47712)											0							SO:0001583	missense			ENST00000296755.7	1	1	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029292	0.07589	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.68	2.4	0.29515	.	0.098257	0.45126	D	0.000385	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999998	D;B	0.58970	0.984;0.011	P;B	0.46796	0.527;0.005	T	0.44742	-0.9308	10	0.52906	T	0.07	-18.0727	3.7741	0.08653	0.313:0.0:0.4124:0.2745	.	1927;2053	A2BDK6;P46821	.;MAP1B_HUMAN	H	2053	ENSP00000296755:Q2053H	ENSP00000296755:Q2053H	Q	+	3	2	MAP1B	71531097	0.273000	0.24181	0.614000	0.29051	0.294000	0.27393	0.403000	0.20982	0.711000	0.32018	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1	120	580	0	158	1	1	30	129	0	158	2		0	0	0	0	0	2	1	1	117	560	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP1B	4131	broad.mit.edu	37	5	71495820	71495820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495820G>A	ENST00000296755.7	+	5	6936	c.6638G>A	c.(6637-6639)cGc>cAc	p.R2213H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	p.R2213H(1)		104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)			CCTTCGCCACGCCACCCTGAT	0.537000													Melanoma(17;367 822 11631 31730 47712)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000296755.7	1	1	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.471969	0.43942	.	.	ENSG00000131711	ENST00000296755	T	0.03386	3.95	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.15219	0.0367	L	0.51422	1.61	0.36631	D	0.876291	D;D	0.76494	0.998;0.999	D;P	0.70935	0.971;0.854	T	0.00500	-1.1703	10	0.44086	T	0.13	-11.5509	20.3539	0.98825	0.0:0.0:1.0:0.0	.	2087;2213	A2BDK6;P46821	.;MAP1B_HUMAN	H	2213	ENSP00000296755:R2213H	ENSP00000296755:R2213H	R	+	2	0	MAP1B	71531576	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.954000	0.63631	2.826000	0.97356	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	1	0	1	148	654	0	155	1	1	42	100	0	155	2		0	0	0	0	0	2	1	1	147	639	0	154	2								-20.000000	1	1	121412	3	39	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF366	167465	broad.mit.edu	37	5	71739689	71739689	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71739689C>T	ENST00000318442.5	-	5	2619	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366			35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)			AGAGGGGCCCCGCCGGGTACT	0.502000																								0							SO:0001583	missense			ENST00000318442.5	1	1	hg19	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410426	0.42715	2.27E-4	0.0	ENSG00000178175	ENST00000318442	T	0.08282	3.11	5.87	2.65	0.31530	.	0.195578	0.35407	N	0.003234	T	0.04003	0.0112	N	0.12182	0.205	0.22940	N	0.998537	B	0.20052	0.041	B	0.08055	0.003	T	0.41770	-0.9490	10	0.24483	T	0.36	-27.7783	6.7823	0.23652	0.4795:0.4319:0.0:0.0886	.	710	Q8N895	ZN366_HUMAN	Q	710	ENSP00000313158:R710Q	ENSP00000313158:R710Q	R	-	2	0	ZNF366	71775445	0.053000	0.20554	0.969000	0.41365	0.938000	0.57974	0.801000	0.27055	0.905000	0.36596	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3	0	0	0	27	746	0	139	0	1.245914e-02	0	5	0	139	2		0	0	0	0	0	2	1	9.999999e-01	26	727	0	139	2								-2.498426	0	1	121412	2	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.420000	0.280000	1.000000	0.410000	0.467477	0.420000	0	3.400000e-01	5.300000e-01
ZNF366	167465	broad.mit.edu	37	5	71756349	71756349	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71756349C>T	ENST00000318442.5	-	2	1465	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366			35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)			TCATGTGGCGCTTCAGGTGGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000318442.5	1	1	hg19	CCDS4015.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3	1	0	1	66	231	0	46	0	2.196995e-01	0	4	0	46	2		0	0	0	0	0	2	1	1	65	228	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM171	134285	broad.mit.edu	37	5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171			15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)			GCTCATCAGCGTCCTGGGCAT	0.587000													NSCLC(112;638 2280 27369 30736)											0							SO:0001583	missense			ENST00000454765.2	1	1	hg19	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	6.690	0.495841	0.12762	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.20598	2.06;2.06	5.34	-0.15	0.13416	.	0.544274	0.17336	N	0.177912	T	0.08980	0.0222	N	0.08118	0	0.26141	N	0.980273	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.37663	-0.9696	10	0.12766	T	0.61	-2.5931	11.1458	0.48430	0.381:0.0:0.619:0.0	.	128;128	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	I	128	ENSP00000415030:V128I;ENSP00000287773:V128I	ENSP00000287773:V128I	V	+	1	0	TMEM171	72455338	0.001000	0.12720	0.681000	0.30009	0.911000	0.54048	-0.538000	0.06120	-0.008000	0.14320	0.455000	0.32223	GTC		TCGA-IB-7651-01A-11D-2154-08	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	1	0	1	114	559	0	124	1	9.749316e-01	11	20	0	124	2		0	0	0	0	0	2	1	1	113	551	0	124	2								-20.000000	1	1	121412	3	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM174	134288	broad.mit.edu	37	5	72469182	72469182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72469182G>A	ENST00000296776.5	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174			7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)			CAAGGCGGGGGCCACCTTGCT	0.557000																								0							SO:0001583	missense			ENST00000296776.5	1	1	hg19	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844751	0.71603	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.91	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.29908	0.895	0.44603	D	0.997579	P	0.41450	0.75	B	0.40677	0.337	T	0.30001	-0.9993	9	0.36615	T	0.2	-3.8862	11.5914	0.50947	0.1854:0.0:0.8146:0.0	.	38	Q8WUU8	TM174_HUMAN	T	38	.	ENSP00000296776:A38T	A	+	1	0	TMEM174	72504938	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.344000	0.59354	1.530000	0.49136	-0.119000	0.15052	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	1	0	0	86	1045	0	186		0	0	0	0	186	2		0	0	0	0	0	2	1	1	81	1026	0	184	2								-16.945730	1	1	121410	3	43	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.900000	0.720000	1.000000	1.000000	0.905446	0.900000	1	8.100000e-01	1
UTP15	84135	broad.mit.edu	37	5	72875701	72875701	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72875701G>T	ENST00000296792.4	+	13	1594		c.e13-1		UTP15_ENST00000543251.1_Splice_Site|UTP15_ENST00000508491.1_Splice_Site	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)			15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)			TCTCTTTTTAGATATATATCT	0.274000																								0							SO:0001630	splice_region_variant			ENST00000296792.4	1	1	hg19	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542509	0.85917	.	.	ENSG00000164338	ENST00000296792;ENST00000509005;ENST00000543251;ENST00000508491	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP15	72911457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.333000	0.90026	2.941000	0.99782	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	1	0	1	30	159	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	31	157	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
ENC1	8507	broad.mit.edu	37	5	73931214	73931214	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73931214T>C	ENST00000302351.4	-	2	2227	c.1097A>G	c.(1096-1098)gAg>gGg	p.E366G	ENC1_ENST00000537006.1_Missense_Mutation_p.E366G|ENC1_ENST00000510316.1_Missense_Mutation_p.E293G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)			20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)			GGACCACTCCTCGTGCAGGGT	0.567000																								0							SO:0001583	missense			ENST00000302351.4	1	1	hg19	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172379	0.78452	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.76839	-1.05;-1.05;-1.05	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	N	0.25144	0.715	0.80722	D	1	B	0.19445	0.036	B	0.28305	0.088	T	0.67110	-0.5753	10	0.59425	D	0.04	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	366	O14682	ENC1_HUMAN	G	366;293;366	ENSP00000306356:E366G;ENSP00000423804:E293G;ENSP00000446289:E366G	ENSP00000306356:E366G	E	-	2	0	ENC1	73966970	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.040000	0.89188	2.254000	0.74563	0.459000	0.35465	GAG		TCGA-IB-7651-01A-11D-2154-08	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	0	0	1	93	423	0	78	1	1	34	167	0	78	2		0	0	0	0	0	2	1	1	90	411	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEXB	3074	broad.mit.edu	37	5	74009400	74009400	+	Nonsense_Mutation	SNP	C	C	T	rs138914144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74009400C>T	ENST00000261416.7	+	7	958	c.841C>T	c.(841-843)Cga>Tga	p.R281*	HEXB_ENST00000511181.1_Nonsense_Mutation_p.R56*	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)			14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)			TGCCAGATTACGAGGAATTCG	0.343000													Melanoma(66;841 1270 13391 18706 27225)											0							SO:0001587	stop_gained			ENST00000261416.7	0	1	hg19	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	C	46	12.186262	0.99644	2.27E-4	0.0	ENSG00000049860	ENST00000511181;ENST00000261416	.	.	.	5.59	3.71	0.42584	.	0.097811	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9659	8.8862	0.35404	0.2495:0.6724:0.0:0.0781	.	.	.	.	X	56;281	.	ENSP00000261416:R281X	R	+	1	2	HEXB	74045156	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	2.131000	0.42074	1.358000	0.45922	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	1	0	1	97	501	0	89	1	1	8	936	0	89	2		0	0	0	0	0	2	1	1	95	493	0	89	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFM2	84340	broad.mit.edu	37	5	74026139	74026139	+	Missense_Mutation	SNP	C	C	T	rs146794329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74026139C>T	ENST00000296805.3	-	17	2129	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	GFM2_ENST00000345239.2_Missense_Mutation_p.G511R|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2	p.G558W(1)		14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)			TGGAGAGGCCCGAGATAGGTC	0.433000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000296805.3	1	1	hg19	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842168	0.91197	2.27E-4	0.0	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.74209	-0.82;-0.82;-0.82	5.64	5.64	0.86602	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.85779	0.1360	10	0.87932	D	0	-13.6338	19.7116	0.96098	0.0:1.0:0.0:0.0	.	558;511;558	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	R	558;511;558	ENSP00000296805:G558R;ENSP00000296804:G511R;ENSP00000427004:G558R	ENSP00000296805:G558R	G	-	1	0	GFM2	74061895	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	7.595000	0.82710	2.673000	0.90976	0.555000	0.69702	GGG		TCGA-IB-7651-01A-11D-2154-08	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	1	0	1	64	241	0	54	1	9.999904e-01	17	50	0	54	2		0	0	0	0	0	2	1	1	64	237	0	54	2								-2.820923	1	1	121410	2	33	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFM2	84340	broad.mit.edu	37	5	74047308	74047308	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74047308A>C	ENST00000296805.3	-	6	772	c.315T>G	c.(313-315)gaT>gaG	p.D105E	GFM2_ENST00000427854.2_Missense_Mutation_p.D105E|GFM2_ENST00000345239.2_Missense_Mutation_p.D105E|GFM2_ENST00000509430.1_Missense_Mutation_p.D105E	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2			14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)			CTGTGTCTCCATCATCAACAT	0.388000																								0							SO:0001583	missense			ENST00000296805.3	0	1	hg19	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844763	0.32606	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000506778	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.84	1.43	0.22495	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.140543	0.64402	D	0.000005	T	0.58061	0.2096	L	0.37507	1.11	0.52501	D	0.999956	B;B;B;B	0.30406	0.074;0.278;0.278;0.091	B;B;B;B	0.36504	0.059;0.226;0.226;0.139	T	0.41770	-0.9490	10	0.07030	T	0.85	-19.5448	5.3805	0.16189	0.7089:0.0:0.1654:0.1257	.	105;105;105;105	Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;RRF2M_HUMAN	E	105;105;105;105;105;30	ENSP00000296805:D105E;ENSP00000296804:D105E;ENSP00000427004:D105E;ENSP00000405808:D105E;ENSP00000424877:D30E	ENSP00000296805:D105E	D	-	3	2	GFM2	74083064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.169000	0.31871	0.341000	0.23771	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	0	0	0	14	831	0	185	0	3.853756e-01	1	74	0	185	2		0	0	0	0	0	2	1	9.997142e-01	14	814	0	184	2								-9.620594	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.200000	0.110000	1.000000	0.190000	0.266321	0.200000	0	1.500000e-01	2.800000e-01
FAM169A	26049	broad.mit.edu	37	5	74091955	74091955	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74091955G>T	ENST00000389156.4	-	11	1250	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.P327H	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A			27					TCTCTGTTCAGGTTCTTCTTC	0.433000																								0							SO:0001583	missense			ENST00000389156.4	1	1	hg19	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255043	0.22965	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.46063	0.88	5.91	3.1	0.35709	.	0.676716	0.14097	N	0.341650	T	0.31327	0.0793	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.26258	0.013;0.145	B;B	0.31442	0.013;0.13	T	0.33420	-0.9869	10	0.72032	D	0.01	-1.4944	4.4626	0.11673	0.0816:0.1453:0.5967:0.1764	.	327;387	D6RB01;Q9Y6X4	.;F169A_HUMAN	H	387;327	ENSP00000373808:P387H	ENSP00000373808:P387H	P	-	2	0	FAM169A	74127711	0.037000	0.19845	0.007000	0.13788	0.687000	0.40016	0.715000	0.25822	0.348000	0.23949	-0.165000	0.13383	CCT		TCGA-IB-7651-01A-11D-2154-08	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2	0	0	0	24	597	0	103	0	5.979731e-02	0	10	0	103	2		0	0	0	0	0	2	1	9.999996e-01	22	590	0	103	2								-3.054187	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.470000	0.300000	1.000000	0.460000	0.510523	0.470000	0	3.700000e-01	6.000000e-01
HMGCR	3156	broad.mit.edu	37	5	74639762	74639762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74639762C>T	ENST00000287936.4	+	3	406	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase			20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAGAATTTACGTCAACTTGG	0.328000																								0							SO:0001583	missense			ENST00000287936.4	1	1	hg19	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.683876|3.683876	0.68157|0.68157	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000287936;ENST00000343975;ENST00000507942|ENST00000544469	D;D;D|.	0.93247|.	-3.19;-3.19;-3.19|.	5.36|5.36	4.41|4.41	0.53225|0.53225	Sterol-sensing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.947;0.994;0.947|.	T|T	0.74070|0.74070	-0.3783|-0.3783	10|6	0.87932|0.87932	D|D	0|0	-11.8413|-11.8413	12.8214|12.8214	0.57696|0.57696	0.2856:0.7144:0.0:0.0|0.2856:0.7144:0.0:0.0	.|.	84;84;84|.	B2R649;P04035-2;P04035|.	.;.;HMDH_HUMAN|.	C|M	84|15	ENSP00000426745:R84C;ENSP00000287936:R84C;ENSP00000340816:R84C|.	ENSP00000287936:R84C|ENSP00000440782:T15M	R|T	+|+	1|2	0|0	HMGCR|HMGCR	74675518|74675518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.679000|2.679000	0.46909|0.46909	2.505000|2.505000	0.84491|0.84491	0.591000|0.591000	0.81541|0.81541	CGT|ACG		TCGA-IB-7651-01A-11D-2154-08	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	1	0	1	50	276	0	92	1	9.999964e-01	31	74	0	92	2		0	0	0	0	0	2	1	1	50	272	0	92	2								-19.999920	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HMGCR	3156	broad.mit.edu	37	5	74655331	74655331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74655331G>T	ENST00000287936.4	+	18	2563	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase			20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TATAGAGATAGGAACGGTGGG	0.448000																								0							SO:0001587	stop_gained			ENST00000287936.4	0	1	hg19	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	40	7.964543	0.98585	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.2011	17.8148	0.88628	0.0:0.0:1.0:0.0	.	.	.	.	X	803;734;803;750;180	.	ENSP00000287936:G803X	G	+	1	0	HMGCR	74691087	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.592000	0.98245	2.416000	0.81992	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	1	0	0	11	248	0	48	0	9.307931e-01	0	107	0	48	2		0	0	0	0	0	2	1	9.982923e-01	11	244	0	48	2								-3.290948	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.530000	0.270000	1.000000	0.500000	0.568734	0.530000	0	3.800000e-01	7.400000e-01
COL4A3BP	10087	broad.mit.edu	37	5	74676924	74676924	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74676924G>A	ENST00000405807.4	-	16	2141	c.1720C>T	c.(1720-1722)Cta>Tta	p.L574L	COL4A3BP_ENST00000380494.5_Silent_p.L702L|COL4A3BP_ENST00000261415.7_Silent_p.L548L|COL4A3BP_ENST00000508692.1_Intron	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein			16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)			ATCTTGCATAGAATGTTGTCC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000405807.4	1	1	hg19	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	9.121	1.009043	0.19199	.	.	ENSG00000113163	ENST00000508809	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	T	0.76905	0.4053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74396	-0.3679	4	.	.	.	-7.9902	20.0985	0.97858	0.0:0.0:1.0:0.0	.	.	.	.	F	75	.	.	S	-	2	0	COL4A3BP	74712680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.644000	0.61397	2.742000	0.94016	0.579000	0.79373	TCT		TCGA-IB-7651-01A-11D-2154-08	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	1	0	1	136	633	0	162	1	9.999992e-01	16	76	0	162	2		0	0	0	0	0	2	1	1	136	620	0	162	2								-20.000000	1	1	121410	2	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLK	51426	broad.mit.edu	37	5	74892094	74892094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74892094C>T	ENST00000241436.4	+	13	1748	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa			27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)			GAAACACCAACAAAGGAGCAT	0.378000								DNA polymerases (catalytic subunits)																0							SO:0001587	stop_gained			ENST00000241436.4	0	1	hg19	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	37	6.605983	0.97701	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	.	.	.	5.66	5.66	0.87406	.	0.050091	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-15.8568	19.7417	0.96234	0.0:1.0:0.0:0.0	.	.	.	.	X	526;328;328;436	.	ENSP00000241436:Q526X	Q	+	1	0	POLK	74927850	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.627000	0.74258	2.661000	0.90470	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	0	0	0	7	218	0	38	0	7.640686e-01	1	86	0	38	2		0	0	0	0	0	2	1	9.798336e-01	7	215	0	38	2								-8.719877	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.400000	0.170000	1.000000	0.360000	0.452070	0.400000	0	2.700000e-01	6.000000e-01
SV2C	22987	broad.mit.edu	37	5	75428107	75428107	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428107A>G	ENST00000502798.2	+	2	974	c.532A>G	c.(532-534)Agt>Ggt	p.S178G	SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C			37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)			CGTGTTACCCAGTGCTGAGAC	0.512000																								0							SO:0001583	missense			ENST00000502798.2	1	1	hg19	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979483	0.74360	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.47528	0.84;0.84	5.65	4.47	0.54385	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71441	-0.4592	10	0.87932	D	0	-11.3857	12.8594	0.57906	0.8636:0.1364:0.0:0.0	.	178	Q496J9	SV2C_HUMAN	G	178	ENSP00000423541:S178G;ENSP00000316983:S178G	ENSP00000316983:S178G	S	+	1	0	SV2C	75463863	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.339000	0.96797	0.962000	0.38057	-0.313000	0.08912	AGT		TCGA-IB-7651-01A-11D-2154-08	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4	1	0	1	77	358	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	73	352	0	87	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
F2RL2	2151	broad.mit.edu	37	5	75913857	75913857	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75913857C>T	ENST00000296641.4	-	2	878	c.675G>A	c.(673-675)atG>atA	p.M225I	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000396234.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2			32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)			AAAATGGCAGCATATATAAGA	0.493000																								0							SO:0001583	missense			ENST00000296641.4	1	1	hg19	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926652	0.34002	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36699	1.24;1.24	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.136641	0.64402	D	0.000003	T	0.33673	0.0871	L	0.41492	1.28	0.37047	D	0.897399	B	0.26258	0.145	B	0.29267	0.1	T	0.22626	-1.0211	10	0.21014	T	0.42	-26.9937	18.5213	0.90954	0.0:1.0:0.0:0.0	.	225	O00254	PAR3_HUMAN	I	225;203	ENSP00000296641:M225I;ENSP00000426703:M203I	ENSP00000296641:M225I	M	-	3	0	F2RL2	75949613	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.429000	0.52800	2.367000	0.80283	0.563000	0.77884	ATG		TCGA-IB-7651-01A-11D-2154-08	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3	1	0	0	8	216	0	48	0	9.775175e-01	0	183	0	48	2		0	0	0	0	0	2	1	9.885410e-01	8	210	0	48	2								-9.821361	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.450000	0.210000	1.000000	0.420000	0.501244	0.450000	0	3.100000e-01	6.700000e-01
F2RL2	2151	broad.mit.edu	37	5	75914417	75914417	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75914417T>A	ENST00000296641.4	-	2	318	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000396234.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2			32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)			CCACGAAAGGTCTTAATGGGT	0.398000																								0							SO:0001583	missense			ENST00000296641.4	1	1	hg19	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.736183	0.30774	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.65178	-0.14;-0.08	4.65	3.42	0.39159	.	0.067630	0.56097	N	0.000031	T	0.44519	0.1297	L	0.28458	0.855	0.26358	N	0.977094	B	0.23891	0.093	B	0.23150	0.044	T	0.23797	-1.0178	10	0.14252	T	0.57	-10.413	8.9959	0.36052	0.165:0.0:0.0:0.835	.	39	O00254	PAR3_HUMAN	S	39;17	ENSP00000296641:T39S;ENSP00000426703:T17S	ENSP00000296641:T39S	T	-	1	0	F2RL2	75950173	1.000000	0.71417	0.316000	0.25252	0.700000	0.40528	1.729000	0.38115	0.595000	0.29777	0.460000	0.39030	ACC		TCGA-IB-7651-01A-11D-2154-08	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3	0	0	1	99	448	1	114	0	1	0	211	1	114	9		0	0	0	0	0	2	1	1	98	438	1	114	17								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQGAP2	10788	broad.mit.edu	37	5	75932970	75932970	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75932970A>C	ENST00000274364.6	+	16	2189	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T	IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2			68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)			TGCTTGTATAAAGAATCATGG	0.373000																								0							SO:0001583	missense			ENST00000274364.6	1	1	hg19	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455648	0.26161	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.72	5.72	0.89469	.	0.271796	0.42053	D	0.000765	T	0.56978	0.2022	M	0.71581	2.175	0.24087	N	0.995924	P;B;P;B	0.37914	0.611;0.141;0.611;0.141	B;B;B;B	0.38842	0.283;0.108;0.283;0.065	T	0.54925	-0.8220	10	0.27082	T	0.32	-22.9968	12.3878	0.55343	1.0:0.0:0.0:0.0	.	190;581;184;631	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	T	631;190;604;581;184;184;184;184	ENSP00000274364:K631T;ENSP00000442313:K190T;ENSP00000423672:K604T;ENSP00000421097:K581T;ENSP00000422661:K184T;ENSP00000379535:K184T;ENSP00000426027:K184T	ENSP00000274364:K631T	K	+	2	0	IQGAP2	75968726	1.000000	0.71417	0.228000	0.23943	0.142000	0.21351	4.922000	0.63404	2.186000	0.69663	0.477000	0.44152	AAA		TCGA-IB-7651-01A-11D-2154-08	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	1	0	1	104	379	0	97	1	9.999999e-01	5	80	0	97	2		0	0	0	0	0	2	1	1	103	374	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQGAP2	10788	broad.mit.edu	37	5	75967644	75967644	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75967644C>T	ENST00000274364.6	+	24	3201	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	IQGAP2_ENST00000379730.3_Silent_p.V470V|IQGAP2_ENST00000502745.1_Silent_p.V464V|IQGAP2_ENST00000396234.3_Silent_p.V464V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2			68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)			TCAAGATGGTCGTCAGCTTCA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000274364.6	1	1	hg19	CCDS34188.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	1	0	1	63	250	0	63	1	9.999957e-01	4	71	0	63	2		0	0	0	0	0	2	1	1	61	240	0	61	2								-3.417622	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQGAP2	10788	broad.mit.edu	37	5	75979000	75979000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75979000C>T	ENST00000274364.6	+	29	4018	c.3721C>T	c.(3721-3723)Ctg>Ttg	p.L1241L	IQGAP2_ENST00000379730.3_Silent_p.L743L|IQGAP2_ENST00000502745.1_Silent_p.L737L|IQGAP2_ENST00000396234.3_Silent_p.L737L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2			68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)			GAGTGAATTGCTGGGGTCGCT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000274364.6	1	1	hg19	CCDS34188.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	1	0	1	78	382	0	89	1	1	7	210	0	89	2		0	0	0	0	0	2	1	1	78	377	0	88	2								-3.342519	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IQGAP2	10788	broad.mit.edu	37	5	76003126	76003126	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76003126C>T	ENST00000274364.6	+	36	5013	c.4716C>T	c.(4714-4716)ttC>ttT	p.F1572F	IQGAP2_ENST00000379730.3_Silent_p.F1074F|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Silent_p.F1068F|IQGAP2_ENST00000396234.3_Silent_p.F1068F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2			68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)			ACAAGAAGTTCTATGGAAAGT	0.299000																								0							SO:0001819	synonymous_variant			ENST00000274364.6	1	1	hg19	CCDS34188.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	0	0	0	8	212	0	38	1	9.797975e-01	6	179	0	38	2		0	0	0	0	0	2	1	9.891606e-01	8	209	0	38	2								-9.804663	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.460000	0.210000	1.000000	0.420000	0.508760	0.460000	0	3.200000e-01	6.800000e-01
F2RL1	2150	broad.mit.edu	37	5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1			13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)			CAGCTGCATCGACCCCTTTGT	0.473000																								0							SO:0001583	missense			ENST00000296677.4	1	1	hg19	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322223	0.95708	.	.	ENSG00000164251	ENST00000296677	T	0.53857	0.6	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72010	-0.4419	9	.	.	.	-37.5292	19.6481	0.95790	0.0:0.0:1.0:0.0	.	340	P55085	PAR2_HUMAN	N	340	ENSP00000296677:D340N	.	D	+	1	0	F2RL1	76165206	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	9.808000	0.99193	2.644000	0.89710	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2	1	0	1	455	1979	0	472	1	1	101	163	0	472	2		0	0	0	0	0	2	1	1	448	1934	0	468	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRHBP	1393	broad.mit.edu	37	5	76251590	76251590	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76251590G>A	ENST00000274368.4	+	4	868	c.446G>A	c.(445-447)aGc>aAc	p.S149N	CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein			16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)			AGCAGGAGGAGCATCAGATCT	0.493000																								0							SO:0001583	missense			ENST00000274368.4	1	1	hg19	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	6.746	0.506401	0.12883	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.60299	0.2;0.2	3.76	1.87	0.25490	CUB (1);	0.191352	0.53938	D	0.000051	T	0.56978	0.2022	L	0.59436	1.845	0.29183	N	0.876387	P;B	0.40578	0.722;0.351	P;B	0.46172	0.506;0.09	T	0.55042	-0.8202	10	0.45353	T	0.12	-24.923	9.8428	0.41008	0.0:0.4215:0.4347:0.1438	.	149;149	D6RHH7;P24387	.;CRHBP_HUMAN	N	149	ENSP00000274368:S149N;ENSP00000426097:S149N	ENSP00000274368:S149N	S	+	2	0	CRHBP	76287346	0.302000	0.24454	0.965000	0.40720	0.627000	0.37826	0.364000	0.20325	0.516000	0.28340	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	1	0	0	14	318	0	71	0	2.132196e-03	0	2	0	71	2		0	0	0	0	0	2	1	9.997597e-01	14	316	0	69	2								-4.240822	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.520000	0.290000	1.000000	0.480000	0.559398	0.520000	0	3.900000e-01	7.100000e-01
AGGF1	55109	broad.mit.edu	37	5	76326595	76326595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76326595G>A	ENST00000312916.7	+	1	386	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T|AGGF1_ENST00000503538.1_Intron	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1			20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)			GGAGCTCATGGCCTCGGAGGc	0.741000																								0							SO:0001583	missense			ENST00000312916.7	0	1	hg19	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704739	0.48412	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;D	0.83163	0.86;-1.69	4.04	4.04	0.47022	.	1.581550	0.03952	N	0.288677	D	0.90099	0.6907	L	0.54323	1.7	0.38013	D	0.934595	D;D	0.89917	0.993;1.0	D;D	0.83275	0.977;0.996	T	0.81373	-0.0962	10	0.87932	D	0	-13.0957	11.9022	0.52690	0.0:0.0:1.0:0.0	.	2;2	Q8N302;Q8N302-3	AGGF1_HUMAN;.	T	2	ENSP00000316109:A2T;ENSP00000424733:A2T	ENSP00000316109:A2T	A	+	1	0	AGGF1	76362351	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	4.055000	0.57441	2.258000	0.74832	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	1	0	0	6	62	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.640866e-01	6	61	0	9	2								-14.212460	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.460000	1.000000	1.000000	0.903850	0.990000	1	7.300000e-01	1
PDE8B	8622	broad.mit.edu	37	5	76700561	76700561	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76700561A>C	ENST00000264917.5	+	12	1272	c.1227A>C	c.(1225-1227)agA>agC	p.R409S	PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S|PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B		GMDS/PDE8B(2)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		Caffeine(DB00201)|Ketotifen(DB00920)	ATTCATTCAGATATAAGAACA	0.358000																								0							SO:0001583	missense			ENST00000264917.5	1	1	hg19	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170914	0.38315	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.70749	-0.46;-0.51;-0.46;-0.46;-0.4	4.75	3.5	0.40072	.	0.168621	0.48286	N	0.000194	T	0.53818	0.1820	L	0.33485	1.01	0.80722	D	1	B;B;P;B;B	0.35139	0.214;0.337;0.486;0.337;0.228	B;B;B;B;B	0.35727	0.098;0.149;0.209;0.149;0.071	T	0.47611	-0.9104	10	0.20519	T	0.43	.	6.6596	0.23007	0.7848:0.0:0.078:0.1372	.	312;362;409;389;409	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	S	362;312;409;389;409	ENSP00000345446:R362S;ENSP00000330428:R312S;ENSP00000264917:R409S;ENSP00000345646:R389S;ENSP00000331336:R409S	ENSP00000264917:R409S	R	+	3	2	PDE8B	76736317	0.018000	0.18449	1.000000	0.80357	0.980000	0.70556	0.256000	0.18351	1.898000	0.54952	0.460000	0.39030	AGA		TCGA-IB-7651-01A-11D-2154-08	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	1	0	1	41	201	0	50	0	4.730096e-01	0	9	0	50	2		0	0	0	0	0	2	1	1	41	201	0	50	2								-19.998490	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PDE8B	8622	broad.mit.edu	37	5	76715655	76715655	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76715655A>C	ENST00000264917.5	+	19	2238	c.2193A>C	c.(2191-2193)aaA>aaC	p.K731N	PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N|PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B		GMDS/PDE8B(2)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		Caffeine(DB00201)|Ketotifen(DB00920)	AGATGACAAAACACTTTGAAC	0.433000																								0							SO:0001583	missense			ENST00000264917.5	1	1	hg19	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065729	0.55539	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.87	3.53	0.40419	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043664	0.85682	D	0.000000	T	0.72819	0.3508	L	0.38838	1.175	0.46521	D	0.999086	B;P;P;P;P	0.46706	0.27;0.858;0.596;0.858;0.883	B;P;B;P;P	0.50754	0.145;0.517;0.259;0.517;0.649	T	0.71955	-0.4436	10	0.59425	D	0.04	.	5.9761	0.19379	0.6459:0.0:0.3541:0.0	.	634;684;676;711;731	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	N	684;634;731;711;676;196	ENSP00000345446:K684N;ENSP00000330428:K634N;ENSP00000264917:K731N;ENSP00000345646:K711N;ENSP00000331336:K676N;ENSP00000423461:K196N	ENSP00000264917:K731N	K	+	3	2	PDE8B	76751411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.847000	0.39299	1.054000	0.40438	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	0	0	0	14	384	0	69	0	1.346961e-01	0	17	0	69	2		0	0	0	0	0	2	1	9.997477e-01	14	380	0	69	2								-14.088570	1	1	121412	1	33	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.430000	0.240000	1.000000	0.410000	0.480115	0.430000	0	3.200000e-01	5.900000e-01
WDR41	55255	broad.mit.edu	37	5	76758930	76758930	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76758930C>A	ENST00000296679.4	-	4	713	c.338G>T	c.(337-339)aGa>aTa	p.R113I	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.R58I	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41			14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)			AATAACTGTTCTATCAGCAGA	0.383000																								0							SO:0001583	missense			ENST00000296679.4	1	1	hg19	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676484	0.67928	.	.	ENSG00000164253	ENST00000296679;ENST00000515253;ENST00000507029;ENST00000514559;ENST00000511036;ENST00000504895;ENST00000509971	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.81	0.884	0.19182	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.194541	0.53938	D	0.000045	T	0.74861	0.3772	M	0.93550	3.43	0.80722	D	1	P;D	0.55800	0.896;0.973	P;P	0.58210	0.603;0.835	T	0.75560	-0.3275	10	0.59425	D	0.04	-5.7762	9.5332	0.39207	0.0:0.5816:0.0:0.4184	.	58;113	B4DT55;Q9HAD4	.;WDR41_HUMAN	I	113;106;58;113;108;105;110	ENSP00000296679:R113I;ENSP00000426499:R106I;ENSP00000424287:R58I;ENSP00000426937:R113I;ENSP00000422510:R108I;ENSP00000426141:R105I;ENSP00000422922:R110I	ENSP00000296679:R113I	R	-	2	0	WDR41	76794686	0.999000	0.42202	0.709000	0.30452	0.972000	0.66771	0.551000	0.23361	-0.120000	0.11809	-0.312000	0.09012	AGA		TCGA-IB-7651-01A-11D-2154-08	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	1	0	1	34	161	0	51	1	1	18	124	0	51	2		0	0	0	0	0	2	1	1	33	160	0	51	2								-3.115830	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
OTP	23440	broad.mit.edu	37	5	76926430	76926430	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76926430C>T	ENST00000306422.3	-	3	1775	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox			13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)			CCAGGCATGGCGGCCGCCGCC	0.751000																								0							SO:0001583	missense			ENST00000306422.3	0	1	hg19	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404441	0.62288	.	.	ENSG00000171540	ENST00000306422	D	0.92249	-3.0	3.62	3.62	0.41486	.	0.138675	0.47093	D	0.000256	D	0.82518	0.5054	L	0.29908	0.895	0.35238	D	0.777562	P	0.44734	0.842	B	0.26310	0.068	D	0.85458	0.1165	10	0.20046	T	0.44	.	15.0675	0.72008	0.0:1.0:0.0:0.0	.	213	Q5XKR4	OTP_HUMAN	T	213	ENSP00000302814:A213T	ENSP00000302814:A213T	A	-	1	0	OTP	76962186	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.032000	0.41127	1.846000	0.53633	0.436000	0.28706	GCC		TCGA-IB-7651-01A-11D-2154-08	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2	1	0	0	7	39	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.789249e-01	7	36	0	7	2								-14.805490	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.790000	1.000000	1.000000	0.987349	0.990000	1	9.900000e-01	1
OTP	23440	broad.mit.edu	37	5	76933016	76933016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76933016G>A	ENST00000306422.3	-	2	1215	c.77C>T	c.(76-78)gCg>gTg	p.A26V	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox			13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)			ACACTTCACCGCCTCCCGGTG	0.677000																								0							SO:0001583	missense			ENST00000306422.3	0	1	hg19	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	36	5.815738	0.96982	.	.	ENSG00000171540	ENST00000306422	D	0.92348	-3.02	5.46	5.46	0.80206	.	0.063719	0.64402	D	0.000009	D	0.91202	0.7228	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.52189	0.692	D	0.92173	0.5745	10	0.66056	D	0.02	.	19.2874	0.94084	0.0:0.0:1.0:0.0	.	26	Q5XKR4	OTP_HUMAN	V	26	ENSP00000302814:A26V	ENSP00000302814:A26V	A	-	2	0	OTP	76968772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.218000	0.95166	2.732000	0.93576	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2	1	0	0	6	45	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.614473e-01	6	42	0	8	2								-12.461670	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.600000	1.000000	1.000000	0.960580	0.990000	1	9.300000e-01	1
ADCY2	108	broad.mit.edu	37	5	7713003	7713003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7713003G>A	ENST00000338316.4	+	11	1702	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)			119					TTTCAAAATCGCACCTTAAGG	0.303000																								0							SO:0001583	missense			ENST00000338316.4	1	1	hg19	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507890	0.44558	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77489	-1.1;-1.1	5.88	5.88	0.94601	.	0.061950	0.64402	D	0.000012	T	0.76828	0.4042	M	0.64404	1.975	0.42518	D	0.992997	B;B	0.27140	0.096;0.169	B;B	0.23419	0.046;0.037	T	0.73487	-0.3967	10	0.45353	T	0.12	.	18.4219	0.90594	0.0:0.0:1.0:0.0	.	358;538	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	538;371;358	ENSP00000342952:R538H;ENSP00000444803:R358H	ENSP00000342952:R538H	R	+	2	0	ADCY2	7766003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.967000	0.56802	2.777000	0.95525	0.551000	0.68910	CGC		TCGA-IB-7651-01A-11D-2154-08	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	1	0	1	27	126	0	36	0	7.362291e-01	0	14	0	36	2		0	0	0	0	0	2	1	1	25	126	0	36	2								-16.756930	1	1	121410	1	30	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
ADCY2	108	broad.mit.edu	37	5	7717276	7717276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7717276G>A	ENST00000338316.4	+	12	1718	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	ADCY2_ENST00000537121.1_Silent_p.K363K|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)			119					ATAGAACCAAGTCACAAAAGA	0.264000																								0							SO:0001819	synonymous_variant			ENST00000338316.4	1	1	hg19	CCDS3872.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	1	0	1	44	279	0	86	0	4.604434e-01	0	11	0	86	2		0	0	0	0	0	2	1	1	44	274	0	86	2								-19.670580	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
AP3B1	8546	broad.mit.edu	37	5	77311268	77311268	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77311268C>A	ENST00000255194.6	-	26	3272	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C	AP3B1_ENST00000519295.1_Missense_Mutation_p.G984C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit			39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)			GGGACTGCACCTACATTGGCT	0.388000									Hermansky-Pudlak syndrome															0							SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	ENST00000255194.6	1	1	hg19	CCDS4041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268917|3.268917	0.59540|0.59540	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.56103|.	0.48;0.48|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.057286|.	0.64402|.	D|.	0.000002|.	T|.	0.73946|.	0.3652|.	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.51449|.	0.945|.	P|.	0.52823|.	0.71|.	T|.	0.72207|.	-0.4360|.	10|.	0.48119|.	T|.	0.1|.	-12.4687|-12.4687	19.0156|19.0156	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1033|.	O00203|.	AP3B1_HUMAN|.	C|Y	1033;984|132	ENSP00000255194:G1033C;ENSP00000430597:G984C|.	ENSP00000255194:G1033C|.	G|X	-|-	1|3	0|2	AP3B1|AP3B1	77347024|77347024	1.000000|1.000000	0.71417|0.71417	0.301000|0.301000	0.25044|0.25044	0.514000|0.514000	0.34195|0.34195	6.492000|6.492000	0.73654|0.73654	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GGT|TAG		TCGA-IB-7651-01A-11D-2154-08	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	1	0	1	99	446	0	91	1	1	33	161	0	91	2		0	0	0	0	0	2	1	1	97	439	0	90	2								-3.036906	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP3B1	8546	broad.mit.edu	37	5	77423893	77423893	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77423893C>T	ENST00000255194.6	-	17	2104	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	AP3B1_ENST00000519295.1_Silent_p.A594A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit			39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)			ATGGGTCGGGCGCCACCTCTG	0.398000									Hermansky-Pudlak syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	HPS, HPS1-8	ENST00000255194.6	1	1	hg19	CCDS4041.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	1	0	1	81	387	0	69	1	1	64	123	0	69	2		0	0	0	0	0	2	1	1	78	380	0	69	2								-3.052077	1	1	121412	2	33	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP3B1	8546	broad.mit.edu	37	5	77458776	77458776	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77458776C>A	ENST00000255194.6	-	13	1406		c.e13-1		AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit			39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)			TCACATAGGTCTAAAAGATAT	0.348000									Hermansky-Pudlak syndrome															0							SO:0001630	splice_region_variant	Familial Cancer Database	HPS, HPS1-8	ENST00000255194.6	1	1	hg19	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543789	0.86022	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4768	0.87661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP3B1	77494532	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.783000	0.85696	2.728000	0.93425	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	1	0	1	76	372	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	74	367	0	69	2								-3.343882	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP3B1	8546	broad.mit.edu	37	5	77473166	77473166	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77473166T>G	ENST00000255194.6	-	9	1212	c.1037A>C	c.(1036-1038)aAt>aCt	p.N346T	AP3B1_ENST00000519295.1_Missense_Mutation_p.N297T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit			39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)			GACCTACCTATTGCTACGAAG	0.323000									Hermansky-Pudlak syndrome															0							SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	ENST00000255194.6	1	1	hg19	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516823	0.64634	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.25414	1.8;1.8	5.45	3.06	0.35304	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.185075	0.56097	D	0.000025	T	0.25606	0.0623	L	0.29908	0.895	0.40808	D	0.983395	P	0.38223	0.623	P	0.46452	0.517	T	0.04737	-1.0930	10	0.66056	D	0.02	.	9.6986	0.40171	0.0:0.1412:0.0:0.8588	.	346	O00203	AP3B1_HUMAN	T	346;297;346;250	ENSP00000255194:N346T;ENSP00000430597:N297T	ENSP00000255194:N346T	N	-	2	0	AP3B1	77508922	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.981000	0.56902	0.376000	0.24707	0.402000	0.26972	AAT		TCGA-IB-7651-01A-11D-2154-08	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	0	0	0	9	314	0	55	1	8.901874e-01	8	131	0	55	2		0	0	0	0	0	2	1	9.938841e-01	9	308	0	55	2								-9.889710	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.350000	0.170000	1.000000	0.330000	0.406076	0.350000	0	2.400000e-01	5.100000e-01
LHFPL2	10184	broad.mit.edu	37	5	77805796	77805796	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77805796G>A	ENST00000515007.2	-	2	551	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	LHFPL2_ENST00000380345.2_Silent_p.L81L			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2			6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)			GGCCCGCACAGCGTGTCCCGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000515007.2	0	1	hg19	CCDS4042.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	0	0	0	5	164	0	25	0	7.402909e-01	0	85	0	25	2		0	0	0	0	0	2	1	9.344931e-01	5	160	0	25	2								-7.665976	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.390000	0.140000	1.000000	0.340000	0.447640	0.390000	0	2.400000e-01	6.300000e-01
ARSB	411	broad.mit.edu	37	5	78260339	78260339	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78260339C>T	ENST00000264914.4	-	3	1126	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q|ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B			18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)			TTCGCCATCTCGAAAATCAAG	0.393000													Melanoma(169;563 1968 25780 26156 52266)											0							SO:0001583	missense			ENST00000264914.4	1	1	hg19	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176424	0.94846	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96587	-4.06;-4.06	5.36	5.36	0.76844	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.065278	0.64402	D	0.000008	D	0.97501	0.9182	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;P	0.71414	0.973;0.835	D	0.97063	0.9772	10	0.41790	T	0.15	.	19.4551	0.94884	0.0:1.0:0.0:0.0	.	197;197	Q8N322;P15848	.;ARSB_HUMAN	Q	197	ENSP00000264914:R197Q;ENSP00000379455:R197Q	ENSP00000264914:R197Q	R	-	2	0	ARSB	78296095	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.177000	0.77650	2.662000	0.90505	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	1	0	1	61	237	0	59	1	9.999970e-01	5	71	0	59	2		0	0	0	0	0	2	1	1	61	235	0	59	2								-3.279901	1	1	121412	1	34	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARSB	411	broad.mit.edu	37	5	78264847	78264847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78264847C>A	ENST00000264914.4	-	2	1017	c.481G>T	c.(481-483)Gga>Tga	p.G161*	ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*|ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B			18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)			GTATCAAATCCTCGGCGGGTT	0.443000													Melanoma(169;563 1968 25780 26156 52266)											0							SO:0001587	stop_gained			ENST00000264914.4	0	1	hg19	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	44	11.112110	0.99517	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000264914:G161X	G	-	1	0	ARSB	78300603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.894000	0.99253	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	1	0	0	62	545	0	145	0	9.691466e-01	0	51	0	145	2		0	0	0	0	0	2	1	1	58	522	0	143	2								-18.805480	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.940000	1.000000	1.000000	0.996940	0.990000	1	9.900000e-01	1
C5orf49	134121	broad.mit.edu	37	5	7832130	7832130	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7832130G>T	ENST00000399810.2	-	3	745	c.277C>A	c.(277-279)Ccg>Acg	p.P93T	C5orf49_ENST00000509627.1_Missense_Mutation_p.P91T	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49			9					ACTCCAACCGGCCTCTCCTGT	0.567000																								0							SO:0001583	missense			ENST00000399810.2	1	1	hg19	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727191	0.03158	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.30448	1.53;1.53	4.72	3.78	0.43462	.	.	.	.	.	T	0.17066	0.0410	N	0.20685	0.6	0.32611	N	0.524627	B	0.17465	0.022	B	0.15052	0.012	T	0.20009	-1.0288	9	0.06494	T	0.89	-30.4253	10.888	0.46978	0.0:0.0:0.7548:0.2452	.	93	A4QMS7	CE049_HUMAN	T	93;91	ENSP00000382708:P93T;ENSP00000426019:P91T	ENSP00000382708:P93T	P	-	1	0	C5orf49	7885130	1.000000	0.71417	0.702000	0.30337	0.130000	0.20726	1.711000	0.37930	0.949000	0.37715	0.555000	0.69702	CCG		TCGA-IB-7651-01A-11D-2154-08	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	1	0	1	125	663	0	193	0	1.829624e-01	0	5	0	193	2		0	0	0	0	0	2	1	1	123	652	0	187	2								-20.000000	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMGDH	29958	broad.mit.edu	37	5	78328588	78328588	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78328588G>A	ENST00000255189.3	-	9	1467	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F|DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase			34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)			GGAACACTTAGACTCCAGCCT	0.507000																								0							SO:0001583	missense			ENST00000255189.3	1	1	hg19	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828160	0.50845	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.27	5.27	0.74061	.	0.351137	0.32836	N	0.005583	T	0.79082	0.4386	N	0.24115	0.695	0.29117	N	0.88048	P;P;P;P	0.48089	0.833;0.905;0.739;0.621	B;P;B;B	0.46110	0.252;0.504;0.382;0.212	T	0.77286	-0.2644	10	0.56958	D	0.05	.	18.9135	0.92494	0.0:0.0:1.0:0.0	.	100;279;330;480	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	F	480;319;279;100;330	ENSP00000255189:S480F;ENSP00000430972:S319F;ENSP00000369667:S279F;ENSP00000439478:S100F	ENSP00000255189:S480F	S	-	2	0	DMGDH	78364344	0.992000	0.36948	0.669000	0.29828	0.682000	0.39822	4.265000	0.58865	2.465000	0.83290	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	1	0	1	197	747	0	185	0	5.229660e-01	0	8	0	185	2		0	0	0	0	0	2	1	1	195	727	0	182	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMGDH	29958	broad.mit.edu	37	5	78338189	78338189	+	Silent	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78338189A>T	ENST00000255189.3	-	7	1138	c.1110T>A	c.(1108-1110)ggT>ggA	p.G370G	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.G169G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase			34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)			ACGTGATAGGACCATTGACAA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000255189.3	1	1	hg19	CCDS4044.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	1	0	1	62	293	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	60	288	0	66	2								-3.376040	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMGDH	29958	broad.mit.edu	37	5	78340214	78340214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78340214C>T	ENST00000255189.3	-	6	935	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase			34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)			CCATCCCTTTCCTGTCGGAGA	0.443000																								0							SO:0001583	missense			ENST00000255189.3	1	1	hg19	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195254	0.94960	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.33865	1.39;1.39;1.39	5.74	4.88	0.63580	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.91140	3.18	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.992	D;P;D	0.74023	0.982;0.897;0.937	T	0.76127	-0.3073	10	0.72032	D	0.01	.	14.797	0.69884	0.0:0.9308:0.0:0.0692	.	102;153;303	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	K	303;142;102;153	ENSP00000255189:E303K;ENSP00000430972:E142K;ENSP00000369667:E102K	ENSP00000255189:E303K	E	-	1	0	DMGDH	78375970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.701000	0.84566	1.440000	0.47531	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	1	0	1	99	400	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	96	394	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMGDH	29958	broad.mit.edu	37	5	78351653	78351653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78351653G>A	ENST00000255189.3	-	3	383	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase			34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)			TCTTCTTCCAGTTTCTCATAA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000255189.3	1	1	hg19	CCDS4044.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	1	0	0	31	152	0	37	0	8.090671e-02	0	3	0	37	2		0	0	0	0	0	2	1	1	30	149	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
BHMT2	23743	broad.mit.edu	37	5	78376548	78376548	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78376548G>T	ENST00000255192.3	+	4	363	c.297G>T	c.(295-297)agG>agT	p.R99S	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2			15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		L-Methionine(DB00134)	ACCTCGCCAGGGAAGTGGCTG	0.438000																								0							SO:0001583	missense			ENST00000255192.3	1	1	hg19	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088877	0.55968	.	.	ENSG00000132840	ENST00000255192;ENST00000518666	T;T	0.40476	1.03;1.03	6.16	1.31	0.21738	Homocysteine S-methyltransferase (4);	0.151545	0.56097	D	0.000024	T	0.45054	0.1323	M	0.79693	2.465	0.80722	D	1	B	0.31519	0.327	B	0.35607	0.206	T	0.43196	-0.9406	10	0.66056	D	0.02	-7.7479	9.095	0.36634	0.6855:0.0:0.3145:0.0	.	99	Q9H2M3	BHMT2_HUMAN	S	99;39	ENSP00000255192:R99S;ENSP00000428640:R39S	ENSP00000255192:R99S	R	+	3	2	BHMT2	78412304	1.000000	0.71417	0.945000	0.38365	0.881000	0.50899	1.262000	0.32992	0.123000	0.18342	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	1	0	1	123	528	0	138	0	7.352180e-01	0	13	0	138	2		0	0	0	0	0	2	1	1	118	517	0	136	2								-3.201487	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BHMT	635	broad.mit.edu	37	5	78416175	78416175	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78416175G>A	ENST00000274353.5	+	4	395	c.288G>A	c.(286-288)ggG>ggA	p.G96G	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase			29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		L-Methionine(DB00134)	CATTTTAGGGGCAGGAAGTCA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000274353.5	1	1	hg19	CCDS4046.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	1	0	1	37	150	0	37	0	0	1	0	0	37	2		0	0	0	0	0	2	1	1	37	149	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JMY	133746	broad.mit.edu	37	5	78611996	78611996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78611996G>T	ENST00000396137.4	+	10	3295	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor			16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)			TGTTTTGAGAGAATCCTTCAC	0.413000																								0							SO:0001587	stop_gained			ENST00000396137.4	0	1	hg19	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	45	11.392913	0.99555	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.65	5.65	0.86999	.	0.393126	0.29631	N	0.011607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.7184	0.96132	0.0:0.0:1.0:0.0	.	.	.	.	X	934;945	.	ENSP00000282259:E934X	E	+	1	0	JMY	78647752	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.921000	0.63397	2.672000	0.90937	0.643000	0.83706	GAA		TCGA-IB-7651-01A-11D-2154-08	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	1	0	1	54	168	0	42	0	9.790268e-01	0	22	0	42	2		0	0	0	0	0	2	1	1	54	163	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASTKD3	79072	broad.mit.edu	37	5	7861322	7861322	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7861322T>C	ENST00000264669.5	-	6	1960	c.1824A>G	c.(1822-1824)ttA>ttG	p.L608L	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3			39					CTTTCCCCAGTAAGTGTTTGC	0.328000																								0							SO:0001819	synonymous_variant			ENST00000264669.5	1	1	hg19	CCDS3873.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	1	0	1	104	460	0	94	1	9.965017e-01	10	30	0	94	2		0	0	0	0	0	2	1	1	103	455	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASTKD3	79072	broad.mit.edu	37	5	7866895	7866895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7866895G>A	ENST00000264669.5	-	2	1438	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3			39					TGAATAGCACGTTTTCCAGCT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000264669.5	1	1	hg19	CCDS3873.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	1	0	1	62	289	0	56	1	8.698308e-01	2	17	0	56	2		0	0	0	0	0	2	1	1	60	285	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASTKD3	79072	broad.mit.edu	37	5	7867281	7867281	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867281G>T	ENST00000264669.5	-	2	1052	c.916C>A	c.(916-918)Ctt>Att	p.L306I	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3			39					CTTTGATCAAGAACCACCAGG	0.388000																								0							SO:0001583	missense			ENST00000264669.5	1	1	hg19	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548702	0.65311	.	.	ENSG00000124279	ENST00000264669	T	0.16897	2.31	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.35895	-0.9770	10	0.42905	T	0.14	-24.8401	18.1841	0.89788	0.0:0.0:1.0:0.0	.	306	Q14CZ7	FAKD3_HUMAN	I	306	ENSP00000264669:L306I	ENSP00000264669:L306I	L	-	1	0	FASTKD3	7920281	1.000000	0.71417	0.169000	0.22859	0.634000	0.38068	7.015000	0.76387	2.506000	0.84524	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	1	0	1	105	457	0	109	1	8.927284e-01	6	13	0	109	2		0	0	0	0	0	2	1	1	103	444	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASTKD3	79072	broad.mit.edu	37	5	7867410	7867410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867410A>C	ENST00000264669.5	-	2	923	c.787T>G	c.(787-789)Ttg>Gtg	p.L263V	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3			39					CATGCCTGCAAGATTCTATAA	0.353000																								0							SO:0001583	missense			ENST00000264669.5	0	1	hg19	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810045	0.50421	.	.	ENSG00000124279	ENST00000264669	T	0.38401	1.14	4.85	-0.21	0.13176	.	0.075761	0.53938	D	0.000053	T	0.45637	0.1352	M	0.76002	2.32	0.33263	D	0.560042	D	0.63880	0.993	P	0.53401	0.725	T	0.58989	-0.7538	10	0.54805	T	0.06	-6.9548	9.9157	0.41432	0.5983:0.0:0.4017:0.0	.	263	Q14CZ7	FAKD3_HUMAN	V	263	ENSP00000264669:L263V	ENSP00000264669:L263V	L	-	1	2	FASTKD3	7920410	0.589000	0.26807	0.029000	0.17559	0.975000	0.68041	0.854000	0.27791	-0.258000	0.09446	0.528000	0.53228	TTG		TCGA-IB-7651-01A-11D-2154-08	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	0	0	0	9	527	0	103	0	5.065985e-02	1	18	0	103	2		0	0	0	0	0	2	1	9.937763e-01	9	517	0	102	2								-7.724820	1	0	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.200000	0.090000	0.350000	0.190000	0.213178	0.200000	0	1.400000e-01	2.800000e-01
FASTKD3	79072	broad.mit.edu	37	5	7868079	7868079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7868079G>A	ENST00000264669.5	-	2	254	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3			39					GGGCACAGACGCTCCTTGACT	0.408000																								0							SO:0001583	missense			ENST00000264669.5	1	1	hg19	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	9.046	0.990783	0.18966	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.24908	1.83;1.83;1.83	4.79	-0.638	0.11500	.	2.565830	0.01078	N	0.004921	T	0.18718	0.0449	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.18935	-1.0321	10	0.42905	T	0.14	-0.6029	3.6307	0.08130	0.3878:0.0:0.432:0.1802	.	40	Q14CZ7	FAKD3_HUMAN	C	40;40;23	ENSP00000264669:R40C;ENSP00000426008:R40C;ENSP00000422443:R23C	ENSP00000264669:R40C	R	-	1	0	FASTKD3	7921079	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.420000	0.21263	-0.001000	0.14495	-0.137000	0.14449	CGT		TCGA-IB-7651-01A-11D-2154-08	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	1	0	0	40	384	0	88	1	4.273655e-01	2	13	0	88	2		0	0	0	0	0	2	1	1	40	377	0	87	2								-3.221883	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.790000	1.000000	1.000000	0.974928	0.990000	1	9.300000e-01	1
HOMER1	9456	broad.mit.edu	37	5	78692711	78692711	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78692711T>G	ENST00000334082.6	-	8	2253	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q|HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)			14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)			ATTTCTTGTTTTAACCTTTCT	0.348000																								0							SO:0001583	missense			ENST00000334082.6	1	1	hg19	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675262	0.67928	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	T;T;T	0.76578	-1.03;3.33;-1.03	5.63	4.46	0.54185	.	0.041017	0.85682	D	0.000000	T	0.76723	0.4027	L	0.29908	0.895	0.51767	D	0.999936	D;B;P	0.63046	0.992;0.029;0.615	P;B;B	0.55923	0.787;0.064;0.269	T	0.78048	-0.2356	10	0.66056	D	0.02	-8.3933	11.4933	0.50394	0.1348:0.0:0.0:0.8652	.	97;141;271	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	Q	271;141;97	ENSP00000334382:K271Q;ENSP00000282260:K141Q;ENSP00000441587:K97Q	ENSP00000282260:K141Q	K	-	1	0	HOMER1	78728467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	1.046000	0.40249	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	1	0	1	25	97	0	21	1	9.885007e-01	11	20	0	21	2		0	0	0	0	0	2	1	9.999999e-01	25	95	0	21	2								-17.648310	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
MTRR	4552	broad.mit.edu	37	5	7897209	7897209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7897209A>G	ENST00000264668.2	+	14	1912	c.1882A>G	c.(1882-1884)Atc>Gtc	p.I628V	MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase			31				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TAAGCATGGGATCTTAACTCA	0.398000																								0							SO:0001583	missense			ENST00000264668.2	1	1	hg19	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	A	0.888	-0.726317	0.03158	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	D;D	0.86366	-2.11;-2.11	5.4	-3.84	0.04256	Oxidoreductase FAD/NAD(P)-binding (1);	0.686685	0.14816	N	0.296751	T	0.64371	0.2592	N	0.02960	-0.455	0.19300	N	0.99997	B	0.09022	0.002	B	0.12156	0.007	T	0.56141	-0.8028	10	0.02654	T	1	-11.5564	13.6269	0.62170	0.3905:0.0:0.6095:0.0	.	628	Q9UBK8	MTRR_HUMAN	V	628;601	ENSP00000264668:I628V;ENSP00000402510:I601V	ENSP00000264668:I628V	I	+	1	0	MTRR	7950209	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	0.907000	0.28531	-0.889000	0.03950	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1	1	0	1	45	252	0	51	1	9.999410e-01	20	64	0	51	2		0	0	0	0	0	2	1	1	44	246	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79026176	79026176	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026176G>A	ENST00000446378.2	+	2	1619	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			AGTAGAAGAAGAGATCGTAGA	0.418000																								0							SO:0001583	missense			ENST00000446378.2	1	1	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221654	0.58560	.	.	ENSG00000164309	ENST00000446378	T	0.63913	-0.07	5.8	5.8	0.92144	.	0.468598	0.18174	N	0.149369	T	0.61223	0.2330	L	0.36672	1.1	0.26789	N	0.969444	P	0.49253	0.921	P	0.49451	0.611	T	0.60332	-0.7284	10	0.87932	D	0	.	12.5436	0.56186	0.0759:0.0:0.9241:0.0	.	530	Q8N3K9	CMYA5_HUMAN	K	530	ENSP00000394770:E530K	ENSP00000394770:E530K	E	+	1	0	CMYA5	79061932	0.821000	0.29204	0.992000	0.48379	0.523000	0.34469	1.409000	0.34680	2.758000	0.94735	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1	127	469	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	125	463	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79026860	79026860	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026860A>G	ENST00000446378.2	+	2	2303	c.2272A>G	c.(2272-2274)Aca>Gca	p.T758A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			CTCACCATCCACAACCGAAAA	0.502000																								0							SO:0001583	missense			ENST00000446378.2	1	1	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189741	0.38707	.	.	ENSG00000164309	ENST00000446378	T	0.38240	1.15	5.41	-3.34	0.04943	.	0.323199	0.22299	N	0.061897	T	0.26919	0.0659	L	0.58583	1.82	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.17745	-1.0359	10	0.38643	T	0.18	.	7.2841	0.26328	0.2766:0.5002:0.2232:0.0	.	758	Q8N3K9	CMYA5_HUMAN	A	758	ENSP00000394770:T758A	ENSP00000394770:T758A	T	+	1	0	CMYA5	79062616	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-0.654000	0.05354	-0.459000	0.07013	-0.263000	0.10527	ACA		TCGA-IB-7651-01A-11D-2154-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1	69	314	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	1	67	303	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79029439	79029439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79029439G>T	ENST00000446378.2	+	2	4882	c.4851G>T	c.(4849-4851)gaG>gaT	p.E1617D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			CTTTGGCAGAGCTGTCTTTGG	0.443000																								0							SO:0001583	missense			ENST00000446378.2	1	1	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079586	0.36662	.	.	ENSG00000164309	ENST00000446378	T	0.03860	3.78	5.08	-2.29	0.06805	.	1.025470	0.07765	N	0.950714	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	1	B	0.23650	0.089	B	0.19946	0.027	T	0.47598	-0.9105	10	0.72032	D	0.01	.	0.5008	0.00579	0.2705:0.1329:0.326:0.2706	.	1617	Q8N3K9	CMYA5_HUMAN	D	1617	ENSP00000394770:E1617D	ENSP00000394770:E1617D	E	+	3	2	CMYA5	79065195	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.401000	0.07232	-0.064000	0.13043	-0.140000	0.14226	GAG		TCGA-IB-7651-01A-11D-2154-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1	110	407	0	115	0	4.606492e-02	0	2	0	115	2		0	0	0	0	0	2	1	1	104	395	0	112	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79030920	79030920	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79030920A>C	ENST00000446378.2	+	2	6363	c.6332A>C	c.(6331-6333)aAg>aCg	p.K2111T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			GTTCAGTCAAAGGTTATTGAT	0.433000																								0							SO:0001583	missense			ENST00000446378.2	1	1	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	8.762	0.923752	0.18056	.	.	ENSG00000164309	ENST00000446378	T	0.06849	3.25	5.94	4.78	0.61160	.	0.119868	0.37761	N	0.001947	T	0.12220	0.0297	L	0.49126	1.545	0.09310	N	1	D	0.55605	0.972	P	0.48304	0.573	T	0.10382	-1.0632	10	0.72032	D	0.01	.	8.7785	0.34776	0.9151:0.0:0.0849:0.0	.	2111	Q8N3K9	CMYA5_HUMAN	T	2111	ENSP00000394770:K2111T	ENSP00000394770:K2111T	K	+	2	0	CMYA5	79066676	0.242000	0.23868	0.023000	0.16930	0.061000	0.15899	3.126000	0.50477	1.069000	0.40788	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1	67	237	0	74	0	4.994571e-02	0	2	0	74	2		0	0	0	0	0	2	1	1	64	229	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79031203	79031203	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79031203G>A	ENST00000446378.2	+	2	6646	c.6615G>A	c.(6613-6615)caG>caA	p.Q2205Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			TAGAAACACAGCCAAGTCCAT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000446378.2	1	1	hg19	CCDS47238.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1	124	497	0	134	0	0	0	1	0	134	2		0	0	0	0	0	2	1	1	123	491	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79032156	79032156	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79032156A>G	ENST00000446378.2	+	2	7599	c.7568A>G	c.(7567-7569)tAc>tGc	p.Y2523C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			AATGAAGACTACAATGAAAGA	0.373000																								0							SO:0001583	missense			ENST00000446378.2	1	1	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	5.166	0.216253	0.09810	.	.	ENSG00000164309	ENST00000446378	T	0.17054	2.3	5.99	4.81	0.61882	.	1.389500	0.04363	N	0.357746	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.43103	0.408	T	0.16041	-1.0416	10	0.35671	T	0.21	.	6.6843	0.23136	0.6888:0.1537:0.0:0.1575	.	2523	Q8N3K9	CMYA5_HUMAN	C	2523	ENSP00000394770:Y2523C	ENSP00000394770:Y2523C	Y	+	2	0	CMYA5	79067912	0.024000	0.19004	0.947000	0.38551	0.017000	0.09413	2.820000	0.48057	1.045000	0.40225	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1	37	146	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	37	145	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79034343	79034343	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034343C>A	ENST00000446378.2	+	2	9786	c.9755C>A	c.(9754-9756)tCt>tAt	p.S3252Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			CATGACACATCTCTAACTCAA	0.423000																								0							SO:0001583	missense			ENST00000446378.2	1	1	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450866	0.43531	.	.	ENSG00000164309	ENST00000446378	T	0.29397	1.57	5.78	4.9	0.64082	.	0.275088	0.26428	N	0.024434	T	0.39253	0.1071	L	0.60455	1.87	0.09310	N	1	D	0.61080	0.989	P	0.55667	0.781	T	0.40590	-0.9555	10	0.87932	D	0	.	4.5866	0.12285	0.1603:0.602:0.1544:0.0834	.	3252	Q8N3K9	CMYA5_HUMAN	Y	3252	ENSP00000394770:S3252Y	ENSP00000394770:S3252Y	S	+	2	0	CMYA5	79070099	0.070000	0.21116	1.000000	0.80357	0.990000	0.78478	0.886000	0.28241	1.426000	0.47256	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	0	1	38	211	1	75	0	1.761639e-01	0	5	1	75	2		0	0	0	0	0	2	1	9.999364e-01	36	208	1	74	13								-3.235754	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79034527	79034527	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034527C>T	ENST00000446378.2	+	2	9970	c.9939C>T	c.(9937-9939)acC>acT	p.T3313T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			ATGTGGAGACCGTTGGTAACG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000446378.2	1	1	hg19	CCDS47238.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1	78	351	0	108	0	8.913097e-02	0	3	0	108	2		0	0	0	0	0	2	1	1	74	348	0	107	2								-2.355686	0	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THBS4	7060	broad.mit.edu	37	5	79373958	79373958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79373958G>A	ENST00000350881.2	+	17	2363	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.V634I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4			34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)			GAACGCAGAGGTCACCCTGAC	0.592000																								0							SO:0001583	missense			ENST00000350881.2	1	1	hg19	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	5.167	0.216344	0.09810	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98234	-4.81;-4.81	5.23	3.34	0.38264	.	0.181790	0.49305	N	0.000147	D	0.91680	0.7370	N	0.11756	0.17	0.31040	N	0.716376	B	0.02656	0.0	B	0.04013	0.001	D	0.83962	0.0322	10	0.02654	T	1	-21.7943	5.9809	0.19407	0.5442:0.0:0.4558:0.0	.	725	P35443	TSP4_HUMAN	I	725;634	ENSP00000339730:V725I;ENSP00000422298:V634I	ENSP00000339730:V725I	V	+	1	0	THBS4	79409714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.753000	0.38359	0.780000	0.33566	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1	1	0	1	18	100	0	23	0	1	0	196	0	23	2		0	0	0	0	0	2	1	9.999893e-01	18	100	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999284	0.990000	1	9.900000e-01	1
SPZ1	84654	broad.mit.edu	37	5	79616966	79616966	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79616966G>A	ENST00000296739.4	+	1	1177	c.932G>A	c.(931-933)aGc>aAc	p.S311N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1			26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)			AAGAAACTGAGCCATGACACC	0.433000																								0							SO:0001583	missense			ENST00000296739.4	1	1	hg19	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	6.083	0.383628	0.11524	.	.	ENSG00000164299	ENST00000296739	T	0.30714	1.52	4.4	0.319	0.15873	.	1.382680	0.04413	N	0.366357	T	0.23766	0.0575	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22906	-1.0203	10	0.27082	T	0.32	-10.4049	7.5922	0.28027	0.6711:0.0:0.3289:0.0	.	311	Q9BXG8	SPZ1_HUMAN	N	311	ENSP00000369611:S311N	ENSP00000369611:S311N	S	+	2	0	SPZ1	79652722	0.014000	0.17966	0.000000	0.03702	0.007000	0.05969	0.609000	0.24238	0.051000	0.15978	-0.262000	0.10625	AGC		TCGA-IB-7651-01A-11D-2154-08	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	0	0	1	86	416	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	84	410	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFYVE16	9765	broad.mit.edu	37	5	79732719	79732719	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79732719G>T	ENST00000338008.5	+	3	395	c.215G>T	c.(214-216)aGc>aTc	p.S72I	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16			51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)			TCAGAAACAAGCTATGGAACA	0.393000													Melanoma(150;1452 1854 16018 17851 37292)											0							SO:0001583	missense			ENST00000338008.5	1	1	hg19	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	3.759	-0.049963	0.07407	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36699	1.24;1.24;1.24	5.31	4.36	0.52297	.	0.596060	0.16043	N	0.232353	T	0.13927	0.0337	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.10520	-1.0626	10	0.25751	T	0.34	-0.7589	7.1536	0.25624	0.0:0.1395:0.5735:0.2871	.	72;72	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	I	72	ENSP00000337159:S72I;ENSP00000423663:S72I;ENSP00000426848:S72I	ENSP00000337159:S72I	S	+	2	0	ZFYVE16	79768475	0.090000	0.21635	0.945000	0.38365	0.222000	0.24845	1.340000	0.33896	2.489000	0.83994	0.467000	0.42956	AGC		TCGA-IB-7651-01A-11D-2154-08	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1	71	315	0	65	0	9.992682e-01	1	49	0	65	2		0	0	0	0	0	2	1	1	71	312	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFYVE16	9765	broad.mit.edu	37	5	79733552	79733552	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79733552G>T	ENST00000338008.5	+	3	1228	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16			51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)			AAAAAGTTTAGACCTTAAGGA	0.368000													Melanoma(150;1452 1854 16018 17851 37292)											0							SO:0001583	missense			ENST00000338008.5	1	1	hg19	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173172	0.21704	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.43294	0.95;0.95;0.95	5.1	4.21	0.49690	.	0.363134	0.23307	N	0.049620	T	0.45357	0.1338	L	0.34521	1.04	0.09310	N	1	P;D	0.67145	0.944;0.996	P;P	0.59703	0.835;0.862	T	0.24799	-1.0150	10	0.52906	T	0.07	-0.1643	8.6938	0.34282	0.0835:0.1541:0.7624:0.0	.	350;350	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	Y	350	ENSP00000337159:D350Y;ENSP00000423663:D350Y;ENSP00000426848:D350Y	ENSP00000337159:D350Y	D	+	1	0	ZFYVE16	79769308	0.641000	0.27251	0.025000	0.17156	0.104000	0.19210	1.474000	0.35398	1.229000	0.43630	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1	90	324	0	93	0	9.992453e-01	0	41	0	93	2		0	0	0	0	0	2	1	1	88	317	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFYVE16	9765	broad.mit.edu	37	5	79739023	79739023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79739023C>T	ENST00000338008.5	+	5	2681	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16			51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)			ACTGTCCAGCCTCCTCAGGAG	0.408000													Melanoma(150;1452 1854 16018 17851 37292)											0							SO:0001583	missense			ENST00000338008.5	1	1	hg19	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506311	0.26949	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49720	0.77;0.77;0.77	5.49	3.65	0.41850	.	0.232813	0.30356	N	0.009813	T	0.50531	0.1621	M	0.81497	2.545	0.58432	D	0.99999	B	0.23854	0.092	B	0.27262	0.078	T	0.56068	-0.8040	10	0.66056	D	0.02	-4.4467	10.7346	0.46117	0.0:0.7961:0.1318:0.0721	.	834	Q7Z3T8	ZFY16_HUMAN	L	834	ENSP00000337159:P834L;ENSP00000423663:P834L;ENSP00000426848:P834L	ENSP00000337159:P834L	P	+	2	0	ZFYVE16	79774779	1.000000	0.71417	0.841000	0.33234	0.009000	0.06853	3.530000	0.53539	1.334000	0.45468	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1	39	301	0	62	1	9.307071e-01	3	34	0	62	2		0	0	0	0	0	2	1	1	39	292	0	62	2								-3.142710	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.998490	0.990000	1	9.900000e-01	1
ZFYVE16	9765	broad.mit.edu	37	5	79743884	79743884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79743884G>T	ENST00000338008.5	+	7	2944	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16			51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)			TACTACAGTGGAAAAGCCAAA	0.328000													Melanoma(150;1452 1854 16018 17851 37292)											0							SO:0001587	stop_gained			ENST00000338008.5	0	1	hg19	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	40	8.124485	0.98665	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.43	3.58	0.41010	.	0.207974	0.34110	N	0.004242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-12.612	6.9264	0.24418	0.14:0.1602:0.6998:0.0	.	.	.	.	X	922	.	ENSP00000337159:E922X	E	+	1	0	ZFYVE16	79779640	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.353000	0.34045	1.396000	0.46663	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	0	0	0	55	247	1	68	0	9.840795e-01	2	57	1	68	5		0	0	0	0	0	2	1	9.999999e-01	54	240	1	68	15								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFYVE16	9765	broad.mit.edu	37	5	79744105	79744105	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79744105T>C	ENST00000338008.5	+	7	3165	c.2985T>C	c.(2983-2985)atT>atC	p.I995I	ZFYVE16_ENST00000505560.1_Silent_p.I995I|ZFYVE16_ENST00000510158.1_Silent_p.I995I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16			51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)			TTGCTAGTATTTCAGATTATA	0.368000													Melanoma(150;1452 1854 16018 17851 37292)											0							SO:0001819	synonymous_variant			ENST00000338008.5	1	1	hg19	CCDS4050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1	45	214	0	56	1	9.974022e-01	12	34	0	56	2		0	0	0	0	0	2	1	1	45	213	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM151B	167555	broad.mit.edu	37	5	79837528	79837528	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79837528C>A	ENST00000282226.4	+	6	863	c.708C>A	c.(706-708)aaC>aaA	p.N236K	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B			7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)			AAAATGATAACTATTCCGTTG	0.323000																								0							SO:0001583	missense			ENST00000282226.4	1	1	hg19	CCDS4051.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530438	0.27387	.	.	ENSG00000152380	ENST00000282226	T	0.10573	2.86	5.74	1.3	0.21679	.	0.850415	0.10963	N	0.614717	T	0.04588	0.0125	N	0.05383	-0.06	0.24922	N	0.991979	B	0.02656	0.0	B	0.04013	0.001	T	0.42632	-0.9440	10	0.28530	T	0.3	-11.1392	3.0276	0.06096	0.4643:0.3169:0.1262:0.0925	.	236	Q6UXP7	F151B_HUMAN	K	236	ENSP00000282226:N236K	ENSP00000282226:N236K	N	+	3	2	FAM151B	79873284	0.998000	0.40836	0.984000	0.44739	0.991000	0.79684	0.862000	0.27899	0.296000	0.22592	0.585000	0.79938	AAC		TCGA-IB-7651-01A-11D-2154-08	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1	1	0	1	44	191	0	51	1	7.303045e-01	2	11	0	51	2		0	0	0	0	0	2	1	1	44	188	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHFR	1719	broad.mit.edu	37	5	79924945	79924945	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79924945G>A	ENST00000439211.2	-	6	1018	c.525C>T	c.(523-525)ggC>ggT	p.G175G	DHFR_ENST00000505337.1_Silent_p.G175G|DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000504396.1_Silent_p.G123G|CTC-325J23.2_ENST00000514201.1_RNA|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase			2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTACTTAATGCCTTTCTCCT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000439211.2	1	1	hg19	CCDS47240.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	1	0	0	29	100	0	22	0	2.259142e-01	1	3	0	22	2		0	0	0	0	0	2	1	1	28	97	0	24	2								-19.919210	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHFR	1719	broad.mit.edu	37	5	79945254	79945254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79945254G>A	ENST00000439211.2	-	3	689	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase			2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTTAAAGGTCGATTCTTCTCA	0.348000																								0							SO:0001587	stop_gained			ENST00000439211.2	0	1	hg19	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472449	0.96274	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	.	.	.	5.41	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.8828	11.9172	0.52771	0.0:0.0:0.6481:0.3519	.	.	.	.	X	66;66;66;14	.	.	R	-	1	2	DHFR	79981010	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.417000	0.44653	1.209000	0.43321	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	1	0	1	61	270	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	60	266	0	73	2								-3.348637	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSH3	4437	broad.mit.edu	37	5	80064769	80064769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80064769C>T	ENST00000265081.6	+	15	2280	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3			29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)			GCAAGAAATACGAAAAATACT	0.318000								Mismatch excision repair (MMR)					Melanoma(88;1010 1399 13793 26548 36275)											0							SO:0001587	stop_gained			ENST00000265081.6	0	1	hg19	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	38	6.671255	0.97751	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	4.51	1.65	0.23941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.0063	13.3788	0.60757	0.3993:0.6007:0.0:0.0	.	.	.	.	X	734;725	.	.	R	+	1	2	MSH3	80100525	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	2.573000	0.46007	0.077000	0.16863	-1.378000	0.01179	CGA		TCGA-IB-7651-01A-11D-2154-08	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	1	0	1	51	200	0	65	1	9.990182e-01	3	41	0	65	2		0	0	0	0	0	2	1	1	51	196	0	65	2								-20.000000	1	1	121400	1	24	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSH3	4437	broad.mit.edu	37	5	80150042	80150042	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80150042G>T	ENST00000265081.6	+	21	2987	c.2907G>T	c.(2905-2907)caG>caT	p.Q969H		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3			29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)			CAACATCACAGTCCTTGGTTA	0.403000								Mismatch excision repair (MMR)					Melanoma(88;1010 1399 13793 26548 36275)											0							SO:0001583	missense			ENST00000265081.6	1	1	hg19	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795617	0.31777	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85171	-1.95	5.25	3.12	0.35913	DNA mismatch repair protein MutS, C-terminal (2);	0.163440	0.53938	D	0.000043	T	0.64000	0.2559	N	0.04994	-0.135	0.33381	D	0.574795	B	0.16166	0.016	B	0.19946	0.027	T	0.58607	-0.7607	9	.	.	.	-2.5097	4.2003	0.10462	0.1322:0.1499:0.5656:0.1523	.	969	P20585	MSH3_HUMAN	H	969;960	ENSP00000265081:Q969H	.	Q	+	3	2	MSH3	80185798	0.868000	0.29978	0.963000	0.40424	0.938000	0.57974	0.101000	0.15251	1.169000	0.42739	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	1	0	1	94	364	0	58	1	9.995088e-01	4	42	0	58	2		0	0	0	0	0	2	1	1	93	357	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASGRF2	5924	broad.mit.edu	37	5	80404827	80404827	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80404827A>G	ENST00000265080.4	+	13	1835	c.1768A>G	c.(1768-1770)Ata>Gta	p.I590V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2			75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)			TGTGGACAATATACGATGTAA	0.338000																								0							SO:0001583	missense			ENST00000265080.4	1	1	hg19	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066701	0.55539	.	.	ENSG00000113319	ENST00000265080	T	0.53857	0.6	5.67	5.67	0.87782	Pleckstrin homology domain (1);	0.040419	0.85682	D	0.000000	T	0.47619	0.1455	L	0.42487	1.325	0.54753	D	0.999984	B	0.28605	0.217	B	0.31547	0.132	T	0.38887	-0.9640	10	0.27082	T	0.32	.	15.6369	0.76961	1.0:0.0:0.0:0.0	.	590	O14827	RGRF2_HUMAN	V	590	ENSP00000265080:I590V	ENSP00000265080:I590V	I	+	1	0	RASGRF2	80440583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.224000	0.78042	2.165000	0.68154	0.454000	0.30748	ATA		TCGA-IB-7651-01A-11D-2154-08	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	1	0	1	47	229	0	42	0	8.014234e-02	0	3	0	42	2		0	0	0	0	0	2	1	1	46	225	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CKMT2	1160	broad.mit.edu	37	5	80550874	80550874	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80550874C>T	ENST00000424301.2	+	6	748	c.510C>T	c.(508-510)agC>agT	p.S170S	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Silent_p.S170S|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)			17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		Creatine(DB00148)	CTGGCCGCAGCATCCGTGGGC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000424301.2	1	1	hg19	CCDS4053.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	1	0	1	68	302	0	54	1	6.773835e-01	2	9	0	54	2		0	0	0	0	0	2	1	1	66	300	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CKMT2	1160	broad.mit.edu	37	5	80562074	80562074	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80562074G>T	ENST00000424301.2	+	11	1495	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)			17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		Creatine(DB00148)	TTGGCAAAAAGTAAACTTTCC	0.383000																								0							SO:0001583	missense			ENST00000424301.2	1	1	hg19	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673184	0.29693	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.25085	1.82;1.82;1.82	5.52	5.52	0.82312	.	0.075433	0.56097	D	0.000029	T	0.16171	0.0389	N	0.19112	0.55	0.38709	D	0.953176	B	0.24258	0.1	B	0.15484	0.013	T	0.05484	-1.0882	10	0.72032	D	0.01	-16.8663	9.233	0.37448	0.0825:0.1483:0.7692:0.0	.	419	P17540	KCRS_HUMAN	N	419	ENSP00000254035:K419N;ENSP00000410289:K419N;ENSP00000404203:K419N	ENSP00000254035:K419N	K	+	3	2	CKMT2	80597830	1.000000	0.71417	0.997000	0.53966	0.381000	0.30169	1.038000	0.30254	2.762000	0.94881	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	1	0	1	91	447	0	108	1	2.039887e-01	3	2	0	108	2		0	0	0	0	0	2	1	1	91	441	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACOT12	134526	broad.mit.edu	37	5	80655779	80655779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80655779G>A	ENST00000307624.3	-	5	467	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	p.R147*(1)		23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)			TGTTGTAATCGAACTTTCCTT	0.313000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000307624.3	0	1	hg19	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121210	0.56613	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	.	.	.	5.04	3.07	0.35406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9079	13.1836	0.59668	0.0:0.0:0.7144:0.2856	.	.	.	.	X	147	.	ENSP00000303246:R147X	R	-	1	2	ACOT12	80691535	1.000000	0.71417	0.958000	0.39756	0.533000	0.34776	2.560000	0.45896	1.203000	0.43233	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	1	0	1	63	239	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	61	237	0	44	2								-20.000000	1	1	121406	5	40	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSBP2	23635	broad.mit.edu	37	5	80762814	80762814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80762814G>T	ENST00000320672.4	-	9	827	c.617C>A	c.(616-618)cCt>cAt	p.P206H	SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2		SSBP2/JAK2(4)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)			AGGCATTCCAGGGCCACCTAA	0.338000																								0							SO:0001583	missense			ENST00000320672.4	1	1	hg19	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731941	0.89390	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.964;0.968;0.964;0.968;0.998;0.999	T	0.81988	-0.0680	9	0.54805	T	0.06	-1.6827	20.6721	0.99693	0.0:0.0:1.0:0.0	.	176;184;186;159;184;206	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	H	206;176;176;159;120;112;186;184;202	.	ENSP00000322977:P206H	P	-	2	0	SSBP2	80798570	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	8.734000	0.91543	2.894000	0.99253	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	1	0	1	67	290	0	52	1	9.998045e-01	2	55	0	52	2		0	0	0	0	0	2	1	1	63	283	0	52	2								-3.032676	1	1	121412	1	26	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6AP1L	92270	broad.mit.edu	37	5	81608455	81608455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81608455T>C	ENST00000380167.4	+	9	1482	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.L53L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like			12					TTACAACAAGTTGTCCATCCA	0.418000											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000380167.4	1	1	hg19	CCDS34196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	1	0	1	143	628	0	154	0	7.249744e-01	0	13	0	154	2		0	0	0	0	0	2	1	1	143	620	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6AP1L	92270	broad.mit.edu	37	5	81613867	81613867	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81613867C>T	ENST00000380167.4	+	10	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	p.C141C(1)		12					CCCAAGACTGCGCCTCCTCCT	0.547000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000380167.4	1	1	hg19	CCDS34196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	1	0	1	57	275	0	76	1	9.207269e-01	11	12	0	76	2		0	0	0	0	0	2	1	1	56	269	0	76	2								-3.269918	1	1	121412	13	41	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VCAN	1462	broad.mit.edu	37	5	82779357	82779357	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82779357G>T	ENST00000265077.3	+	2	585	c.20G>T	c.(19-21)aGc>aTc	p.S7I	VCAN_ENST00000513984.1_Missense_Mutation_p.S7I|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000343200.5_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	AATATAAAGAGCATCTTATGG	0.323000																								0							SO:0001583	missense			ENST00000265077.3	1	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824873	0.71143	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	D;D;D;T;T;D	0.86097	-1.99;-1.92;-2.07;3.23;2.94;-1.89	5.35	4.45	0.53987	.	0.194776	0.36134	N	0.002767	D	0.87641	0.6228	L	0.60455	1.87	0.23559	N	0.997417	D;B;P;D;B	0.58970	0.984;0.01;0.728;0.981;0.167	P;B;B;P;B	0.58721	0.844;0.009;0.25;0.716;0.042	T	0.79037	-0.1967	10	0.22706	T	0.39	.	12.4398	0.55619	0.0:0.0:0.8321:0.1679	.	7;7;7;7;7	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	I	7	ENSP00000265077:S7I;ENSP00000340062:S7I;ENSP00000342768:S7I;ENSP00000426251:S7I;ENSP00000426715:S7I;ENSP00000421362:S7I	ENSP00000265077:S7I	S	+	2	0	VCAN	82815113	1.000000	0.71417	0.980000	0.43619	0.768000	0.43524	2.325000	0.43840	1.182000	0.42928	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	1	34	181	0	57	1	1	2	287	0	57	2		0	0	0	0	0	2	1	1	34	178	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
VCAN	1462	broad.mit.edu	37	5	82786232	82786232	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82786232G>A	ENST00000265077.3	+	3	951	c.386G>A	c.(385-387)cGc>cAc	p.R129H	VCAN_ENST00000513984.1_Missense_Mutation_p.R129H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000343200.5_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	GGTCTTTACCGCTGTGACGTC	0.517000																								0							SO:0001583	missense			ENST00000265077.3	1	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462761	0.84425	0.0	1.16E-4	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80618	0.4657	M	0.76433	2.335	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.924;0.999;1.0;0.986	T	0.81693	-0.0817	10	0.87932	D	0	.	19.9058	0.97007	0.0:0.0:1.0:0.0	.	129;129;129;129;129	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	129;129;129;81;129;129;129	ENSP00000265077:R129H;ENSP00000340062:R129H;ENSP00000342768:R129H;ENSP00000425959:R81H;ENSP00000426251:R129H;ENSP00000426715:R129H;ENSP00000421362:R129H	ENSP00000265077:R129H	R	+	2	0	VCAN	82821988	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.161000	0.71868	2.716000	0.92895	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	1	103	392	0	103	1	1	4	360	0	103	2		0	0	0	0	0	2	1	1	102	385	0	103	2								-20.000000	1	1	121412	5	40	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VCAN	1462	broad.mit.edu	37	5	82789700	82789700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82789700G>A	ENST00000265077.3	+	5	1263	c.698G>A	c.(697-699)cGt>cAt	p.R233H	VCAN_ENST00000513984.1_Missense_Mutation_p.R233H|VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000343200.5_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	TATGGATTCCGTTCTCCCCAG	0.438000																								0							SO:0001583	missense			ENST00000265077.3	1	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405481	0.96051	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.97	5.97	0.96955	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.64402	D	0.000014	T	0.56108	0.1963	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.998	T	0.70324	-0.4903	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	233;233;233;233;233	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	H	233;233;233;185;233;233;233	ENSP00000265077:R233H;ENSP00000340062:R233H;ENSP00000342768:R233H;ENSP00000425959:R185H;ENSP00000426251:R233H;ENSP00000426715:R233H;ENSP00000421362:R233H	ENSP00000265077:R233H	R	+	2	0	VCAN	82825456	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	0	1	121	491	0	94	1	1	3	396	0	94	2		0	0	0	0	0	2	1	1	120	482	0	93	2								-3.489290	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VCAN	1462	broad.mit.edu	37	5	82817768	82817768	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82817768G>A	ENST00000265077.3	+	7	4208	c.3643G>A	c.(3643-3645)Gac>Aac	p.D1215N	VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	CAGTTCAGTAGACAGACTTCA	0.428000																								0							SO:0001583	missense			ENST00000265077.3	0	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219422	0.39201	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.90788	-2.73;-2.63;-2.68	5.65	5.65	0.86999	.	0.092595	0.47093	D	0.000260	D	0.93038	0.7784	M	0.61703	1.905	0.45995	D	0.998803	D;D	0.59767	0.959;0.986	P;P	0.53266	0.647;0.722	D	0.93361	0.6727	10	0.72032	D	0.01	.	19.733	0.96192	0.0:0.0:1.0:0.0	.	1215;1215	P13611-3;P13611	.;CSPG2_HUMAN	N	1215;1215;1167	ENSP00000265077:D1215N;ENSP00000342768:D1215N;ENSP00000425959:D1167N	ENSP00000265077:D1215N	D	+	1	0	VCAN	82853524	1.000000	0.71417	0.166000	0.22797	0.069000	0.16628	4.957000	0.63652	2.665000	0.90641	0.585000	0.79938	GAC		TCGA-IB-7651-01A-11D-2154-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	0	0	12	625	0	118	0	4.620302e-01	0	78	0	118	2		0	0	0	0	0	2	1	9.990161e-01	12	613	0	115	2								-3.100045	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.230000	0.120000	1.000000	0.230000	0.294719	0.230000	0	1.700000e-01	3.300000e-01
VCAN	1462	broad.mit.edu	37	5	82834706	82834706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82834706G>A	ENST00000265077.3	+	8	6449	c.5884G>A	c.(5884-5886)Gca>Aca	p.A1962T	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	CTCTGGAGATGCAGCATTTAG	0.453000																								0							SO:0001583	missense			ENST00000265077.3	1	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	6.088	0.384584	0.11524	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84800	-1.88;-1.9;3.19	5.97	-1.47	0.08772	.	0.710056	0.13201	N	0.405995	T	0.75554	0.3865	M	0.62723	1.935	0.09310	N	1	B;B	0.20052	0.041;0.024	B;B	0.14578	0.011;0.005	T	0.56786	-0.7921	10	0.18710	T	0.47	.	1.9771	0.03418	0.3318:0.215:0.3443:0.1089	.	975;1962	P13611-2;P13611	.;CSPG2_HUMAN	T	1962;975;975	ENSP00000265077:A1962T;ENSP00000340062:A975T;ENSP00000426251:A975T	ENSP00000265077:A1962T	A	+	1	0	VCAN	82870462	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.118000	0.15605	-0.164000	0.10927	-0.469000	0.05056	GCA		TCGA-IB-7651-01A-11D-2154-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	0	0	12	358	0	67	0	9.999832e-01	0	645	0	67	2		0	0	0	0	0	2	1	9.990300e-01	12	350	0	67	2								-11.928040	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.400000	0.210000	1.000000	0.380000	0.452032	0.400000	0	2.900000e-01	5.600000e-01
VCAN	1462	broad.mit.edu	37	5	82835411	82835411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82835411C>A	ENST00000265077.3	+	8	7154	c.6589C>A	c.(6589-6591)Cct>Act	p.P2197T	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	CACAACTCTCCCTGAAGCTAC	0.373000																								0							SO:0001583	missense			ENST00000265077.3	1	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553069	0.45487	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84442	-1.83;-1.85;3.29	5.46	3.41	0.39046	.	0.454272	0.20652	N	0.088197	T	0.77824	0.4188	M	0.62723	1.935	0.09310	N	0.999999	P;B	0.34864	0.473;0.307	B;B	0.27887	0.084;0.051	T	0.70081	-0.4970	10	0.46703	T	0.11	.	5.0923	0.14715	0.2257:0.586:0.1064:0.0819	.	1210;2197	P13611-2;P13611	.;CSPG2_HUMAN	T	2197;1210;1210	ENSP00000265077:P2197T;ENSP00000340062:P1210T;ENSP00000426251:P1210T	ENSP00000265077:P2197T	P	+	1	0	VCAN	82871167	0.003000	0.15002	0.059000	0.19551	0.372000	0.29890	0.710000	0.25748	1.450000	0.47717	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	0	1	86	480	0	97	1	1	6	709	0	97	2		0	0	0	0	0	2	1	1	86	464	0	97	2								-2.775517	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VCAN	1462	broad.mit.edu	37	5	82837166	82837166	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82837166A>G	ENST00000265077.3	+	8	8909	c.8344A>G	c.(8344-8346)Att>Gtt	p.I2782V	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	CTATCTAAGTATTGCTACTAC	0.438000																								0							SO:0001583	missense			ENST00000265077.3	1	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	8.071	0.770228	0.15983	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.38722	1.12;1.12	6.17	5.0	0.66597	.	0.176773	0.40469	N	0.001084	T	0.33585	0.0868	L	0.43152	1.355	0.80722	D	1	B;B	0.23540	0.084;0.087	B;B	0.24006	0.05;0.033	T	0.12041	-1.0563	10	0.31617	T	0.26	.	9.6564	0.39928	0.8694:0.0:0.1306:0.0	.	1795;2782	P13611-2;P13611	.;CSPG2_HUMAN	V	2782;1795	ENSP00000265077:I2782V;ENSP00000340062:I1795V	ENSP00000265077:I2782V	I	+	1	0	VCAN	82872922	0.924000	0.31332	0.976000	0.42696	0.039000	0.13416	1.350000	0.34010	2.371000	0.80710	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	1	76	355	0	116	1	1	8	804	0	116	2		0	0	0	0	0	2	1	1	74	347	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAPLN1	1404	broad.mit.edu	37	5	82937350	82937350	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82937350G>A	ENST00000274341.4	-	5	1880	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1			34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		Hyaluronan(DB08818)	ACACCATACAGCTTATGCTTT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000274341.4	1	1	hg19	CCDS4061.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	1	0	1	148	750	0	165	0	9.103229e-01	0	23	0	165	2		0	0	0	0	0	2	1	1	146	740	0	165	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EDIL3	10085	broad.mit.edu	37	5	83362285	83362285	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83362285G>A	ENST00000296591.5	-	7	1210	c.792C>T	c.(790-792)ggC>ggT	p.G264G	EDIL3_ENST00000380138.3_Silent_p.G254G|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3			31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)			CTTCATTGGTGCCTTTCACTT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000296591.5	1	1	hg19	CCDS4062.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	1	0	1	41	184	0	38	0	1	0	247	0	38	2		0	0	0	0	0	2	1	1	40	176	0	38	2								-19.999870	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EDIL3	10085	broad.mit.edu	37	5	83549944	83549944	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83549944C>A	ENST00000296591.5	-	2	572	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3			31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)			GTGAAGCCATCTGGACACTCA	0.393000																								0							SO:0001583	missense			ENST00000296591.5	1	1	hg19	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564227	0.45694	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.92397	-3.03;-3.03	5.61	5.61	0.85477	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.382799	0.21161	N	0.079154	D	0.94155	0.8125	L	0.43923	1.385	0.27100	N	0.962635	B;B	0.29955	0.115;0.263	B;P	0.52514	0.086;0.701	D	0.90169	0.4234	10	0.72032	D	0.01	-12.6903	15.7408	0.77894	0.0:0.8635:0.1365:0.0	.	52;52	O43854-2;O43854	.;EDIL3_HUMAN	Y	52	ENSP00000296591:D52Y;ENSP00000369483:D52Y	ENSP00000296591:D52Y	D	-	1	0	EDIL3	83585700	0.994000	0.37717	0.983000	0.44433	0.948000	0.59901	2.320000	0.43797	2.642000	0.89623	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	1	0	1	23	228	0	45	0	9.999943e-01	0	201	0	45	2		0	0	0	0	0	2	1	9.999993e-01	23	219	0	45	2								-3.318795	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.720000	1.000000	1.000000	0.962189	0.990000	1	8.900000e-01	1
COX7C	1350	broad.mit.edu	37	5	85915251	85915251	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85915251T>G	ENST00000509578.1	+	2	257	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V|COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|MIR3607_ENST00000362392.1_RNA			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc			2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)			TGCTACACCCTTCCTTGTAGT	0.373000																								0							SO:0001583	missense			ENST00000509578.1	1	1	hg19	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176737	0.38413	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.80632	-0.1296	8	0.66056	D	0.02	-14.2803	12.1643	0.54120	0.0:0.0:0.0:1.0	.	53	P15954	COX7C_HUMAN	V	53	.	ENSP00000247655:F53V	F	+	1	0	COX7C	85951007	1.000000	0.71417	0.645000	0.29479	0.038000	0.13279	5.524000	0.67105	2.118000	0.64928	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	1	0	1	103	521	0	158	1	1	1008	2329	0	158	2		0	0	0	0	0	2	1	1	100	516	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RASA1	5921	broad.mit.edu	37	5	86672311	86672311	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:86672311T>C	ENST00000274376.6	+	16	2677	c.2113T>C	c.(2113-2115)Tcc>Ccc	p.S705P	RASA1_ENST00000512763.1_Missense_Mutation_p.S538P|RASA1_ENST00000456692.2_Missense_Mutation_p.S528P|RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1			48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)			TGAACCAGGGTCCCTGCGTGT	0.403000																								0							SO:0001583	missense			ENST00000274376.6	1	1	hg19	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312935	0.81358	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.54	4.31	0.51392	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.048785	0.85682	D	0.000000	T	0.81004	0.4733	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.74348	0.959;0.983;0.959;0.982;0.959	T	0.81720	-0.0804	10	0.51188	T	0.08	.	11.465	0.50232	0.1347:0.0:0.0:0.8653	.	539;538;539;528;705	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	P	705;738;528;538;539	ENSP00000274376:S705P;ENSP00000411221:S528P;ENSP00000422008:S538P;ENSP00000420905:S539P	ENSP00000274376:S705P	S	+	1	0	RASA1	86708067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.197000	0.58413	2.102000	0.63906	0.460000	0.39030	TCC		TCGA-IB-7651-01A-11D-2154-08	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	1	0	1	67	248	0	59	1	9.999978e-01	4	70	0	59	2		0	0	0	0	0	2	1	1	66	246	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM161B	153396	broad.mit.edu	37	5	87498877	87498877	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:87498877G>A	ENST00000296595.6	-	9	940	c.816C>T	c.(814-816)atC>atT	p.I272I	TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000506536.1_Silent_p.I90I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000509387.1_Silent_p.I145I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B			20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)			CCAAGAAGTTGATATGAAGTA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000296595.6	1	1	hg19	CCDS4065.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	1	0	0	61	309	0	67	1	9.891465e-01	6	32	0	67	2		0	0	0	0	0	2	1	1	60	307	0	66	2								-20.000000	1	1	121412	2	31	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MBLAC2	153364	broad.mit.edu	37	5	89769706	89769706	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89769706G>T	ENST00000316610.6	-	1	879	c.404C>A	c.(403-405)gCc>gAc	p.A135D	MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000514483.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2			5					GAACTGTCTGGCCCTCCAGCC	0.682000																								0							SO:0001583	missense			ENST00000316610.6	0	1	hg19	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240964	0.95272	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122;ENST00000546270	T;T	0.42513	0.97;0.97	5.34	4.46	0.54185	Beta-lactamase-like (2);	0.047707	0.85682	N	0.000000	T	0.51753	0.1693	M	0.76328	2.33	0.80722	D	1	P	0.39311	0.667	P	0.45232	0.474	T	0.52895	-0.8514	10	0.37606	T	0.19	-12.2393	15.4054	0.74874	0.0:0.0:0.8598:0.1402	.	135	Q68D91	MBLC2_HUMAN	D	135;135;135;65	ENSP00000314776:A135D;ENSP00000425600:A135D	ENSP00000314776:A135D	A	-	2	0	AC093510.2;MBLAC2	89805462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.142000	0.94618	1.222000	0.43521	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	1	0	0	8	64	0	8	0	5.049746e-01	1	13	0	8	2		0	0	0	0	0	2	1	9.907666e-01	8	64	0	7	2								-14.600630	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.640000	1.000000	1.000000	0.964948	0.990000	1	9.400000e-01	1
MBLAC2	153364	broad.mit.edu	37	5	89770000	89770000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89770000C>T	ENST00000316610.6	-	1	585	c.110G>A	c.(109-111)gGc>gAc	p.G37D	MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000514483.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2			5					CTGCTCGGAGCCGCGCACCAG	0.607000																								0							SO:0001583	missense			ENST00000316610.6	0	1	hg19	CCDS4067.1	.	.	.	.	.	.	.	.	.	.	C	36	5.653877	0.96724	.	.	ENSG00000176055;ENSG00000176055;ENSG00000259131	ENST00000316610;ENST00000514906;ENST00000556122	T;T	0.80214	-1.35;-1.35	5.37	5.37	0.77165	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	L	0.54908	1.71	0.80722	D	1	P	0.45474	0.859	P	0.61397	0.888	T	0.82841	-0.0258	10	0.23302	T	0.38	-1.1889	18.7291	0.91728	0.0:1.0:0.0:0.0	.	37	Q68D91	MBLC2_HUMAN	D	37	ENSP00000314776:G37D;ENSP00000425600:G37D	ENSP00000314776:G37D	G	-	2	0	AC093510.2;MBLAC2	89805756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.504000	0.66968	2.496000	0.84212	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	1	0	1	10	49	0	17	1	9.325742e-01	7	19	0	17	2		0	0	0	0	0	2	1	9.977216e-01	10	49	0	16	2								-18.951360	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.996911	0.990000	1	9.900000e-01	1
GPR98	84059	broad.mit.edu	37	5	89924519	89924519	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89924519A>G	ENST00000405460.2	+	8	1475	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			CATTTTGCACAAGGGCAGATG	0.463000																								0							SO:0001583	missense			ENST00000405460.2	1	1	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281698	0.80692	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30981	1.51	5.72	4.53	0.55603	.	0.116585	0.64402	D	0.000014	T	0.47820	0.1466	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.49428	-0.8941	10	0.62326	D	0.03	.	13.1022	0.59226	0.866:0.134:0.0:0.0	.	460	Q8WXG9	GPR98_HUMAN	R	460	ENSP00000384582:Q460R	ENSP00000296619:Q460R	Q	+	2	0	GPR98	89960275	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.673000	0.68109	1.060000	0.40578	0.528000	0.53228	CAA		TCGA-IB-7651-01A-11D-2154-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	0	0	17	466	0	78	0	1.450935e-03	0	2	0	78	2		0	0	0	0	0	2	1	9.999626e-01	16	461	0	77	2								-16.094250	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.430000	0.250000	1.000000	0.420000	0.476756	0.430000	0	3.300000e-01	5.700000e-01
GPR98	84059	broad.mit.edu	37	5	89925335	89925335	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89925335T>C	ENST00000405460.2	+	9	1914	c.1818T>C	c.(1816-1818)aaT>aaC	p.N606N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			tccttcaaaatggagctcact	0.318000																								0							SO:0001819	synonymous_variant			ENST00000405460.2	1	1	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	9.095	1.002709	0.19121	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.71753	0.3377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71167	-0.4672	4	.	.	.	.	15.6442	0.77036	0.0:0.0:0.0:1.0	.	.	.	.	R	195	.	.	W	+	1	0	GPR98	89961091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.434000	0.44802	2.104000	0.64026	0.533000	0.62120	TGG		TCGA-IB-7651-01A-11D-2154-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1	37	168	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	1	37	167	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR98	84059	broad.mit.edu	37	5	89938474	89938474	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89938474G>A	ENST00000405460.2	+	12	2358	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			AAAACCAAGTGCTGAAATCTG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000405460.2	1	1	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756800	0.15846	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.09	1.0	0.19881	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	.	2.1616	0.03826	0.2883:0.3898:0.2094:0.1125	.	.	.	.	T	343	.	.	A	+	1	0	GPR98	89974230	0.969000	0.33509	0.949000	0.38748	0.727000	0.41649	0.197000	0.17197	0.158000	0.19367	0.460000	0.39030	GCT		TCGA-IB-7651-01A-11D-2154-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	0	29	646	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	29	636	0	110	2								-4.700911	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.520000	0.350000	1.000000	0.500000	0.556470	0.520000	0	4.200000e-01	6.500000e-01
GPR98	84059	broad.mit.edu	37	5	89939798	89939798	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89939798G>T	ENST00000405460.2	+	14	2828	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			GCTATCTATAGTGGTAATTTA	0.274000																								0							SO:0001583	missense			ENST00000405460.2	0	1	hg19	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.146701|2.146701	0.37923|0.37923	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.27557|.	1.66|.	5.35|5.35	2.46|2.46	0.29980|0.29980	Na-Ca exchanger/integrin-beta4 (1);|.	0.900278|.	0.09866|.	N|.	0.745581|.	T|.	0.33933|.	0.0880|.	L|L	0.39514|0.39514	1.22|1.22	0.09310|0.09310	N|N	1|1	P|.	0.40000|.	0.698|.	B|.	0.37888|.	0.26|.	T|.	0.21518|.	-1.0243|.	10|.	0.54805|.	T|.	0.06|.	.|.	5.3234|5.3234	0.15893|0.15893	0.3069:0.2793:0.4138:0.0|0.3069:0.2793:0.4138:0.0	.|.	911|.	Q8WXG9|.	GPR98_HUMAN|.	I|Y	911|499	ENSP00000384582:S911I|.	ENSP00000296619:S911I|.	S|X	+|+	2|3	0|2	GPR98|GPR98	89975554|89975554	0.527000|0.527000	0.26306|0.26306	0.390000|0.390000	0.26220|0.26220	0.262000|0.262000	0.26303|0.26303	1.118000|1.118000	0.31246|0.31246	0.615000|0.615000	0.30124|0.30124	0.655000|0.655000	0.94253|0.94253	AGT|TAG		TCGA-IB-7651-01A-11D-2154-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	0	0	6	116	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.644063e-01	6	114	0	11	2								-9.559643	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.630000	0.260000	1.000000	1.000000	0.659180	0.630000	0	4.100000e-01	9.700000e-01
GPR98	84059	broad.mit.edu	37	5	90020790	90020790	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90020790T>G	ENST00000405460.2	+	46	9986	c.9890T>G	c.(9889-9891)aTt>aGt	p.I3297S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			TGGCAGGGGATTTTTATTCCA	0.284000																								0							SO:0001583	missense			ENST00000405460.2	1	1	hg19	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.88|13.88	2.370527|2.370527	0.42003|0.42003	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.26518	.|1.73	5.51|5.51	4.36|4.36	0.52297|0.52297	.|.	.|0.449501	.|0.25154	.|N	.|0.032734	T|T	0.24851|0.24851	0.0603|0.0603	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28128	.|0.049;0.201	.|B;B	.|0.18871	.|0.016;0.023	T|T	0.03818|0.03818	-1.1001|-1.1001	5|10	.|0.66056	.|D	.|0.02	.|.	10.582|10.582	0.45261|0.45261	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	.|3297;3297	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	V|S	863|3297	.|ENSP00000384582:I3297S	.|ENSP00000296619:I3297S	F|I	+|+	1|2	0|0	GPR98|GPR98	90056546|90056546	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	2.691000|2.691000	0.47010|0.47010	0.940000|0.940000	0.37473|0.37473	0.455000|0.455000	0.32223|0.32223	TTT|ATT		TCGA-IB-7651-01A-11D-2154-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1	31	179	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	1	31	179	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999928	0.990000	1	9.900000e-01	1
GPR98	84059	broad.mit.edu	37	5	90041501	90041501	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90041501C>T	ENST00000405460.2	+	52	10959	c.10863C>T	c.(10861-10863)ttC>ttT	p.F3621F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			AAGAATCCTTCAAAGTTCAAC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000405460.2	1	1	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.373	1.071033	0.20147	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.59	4.73	0.59995	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61004	-0.7150	4	.	.	.	.	11.0436	0.47846	0.0:0.8049:0.0:0.1951	.	.	.	.	L	1187	.	.	S	+	2	0	GPR98	90077257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.989000	0.40707	1.377000	0.46286	0.563000	0.77884	TCA		TCGA-IB-7651-01A-11D-2154-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1	24	179	0	56	0	0	1	0	0	56	2		0	0	0	0	0	2	1	9.999998e-01	24	178	0	55	2								-11.674800	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.940000	1.000000	1.000000	0.996250	0.990000	1	9.900000e-01	1
GPR98	84059	broad.mit.edu	37	5	90106690	90106690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90106690C>T	ENST00000405460.2	+	74	15709	c.15613C>T	c.(15613-15615)Cct>Tct	p.P5205S	GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			GTCTGAAAAGCCTGATGTGGC	0.473000																								0							SO:0001583	missense			ENST00000405460.2	1	1	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005721	0.19199	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27256	1.71;1.68	5.01	4.08	0.47627	.	0.000000	0.49305	D	0.000150	T	0.25005	0.0607	L	0.51422	1.61	0.29785	N	0.833667	P;B;P	0.40180	0.58;0.118;0.705	B;B;B	0.41510	0.196;0.026;0.359	T	0.09465	-1.0673	9	.	.	.	.	10.1779	0.42950	0.1985:0.8015:0.0:0.0	.	866;5205;866	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	S	5205;5205;866	ENSP00000384582:P5205S;ENSP00000392618:P866S	.	P	+	1	0	GPR98	90142446	0.998000	0.40836	0.993000	0.49108	0.798000	0.45092	1.080000	0.30779	2.504000	0.84457	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1	91	320	0	75	0	5.004036e-02	0	2	0	75	2		0	0	0	0	0	2	1	1	88	316	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR98	84059	broad.mit.edu	37	5	90144584	90144584	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90144584A>G	ENST00000405460.2	+	79	17246	c.17150A>G	c.(17149-17151)gAg>gGg	p.E5717G	GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			GAAGTGACTGAGAATTTTGCC	0.383000																								0							SO:0001583	missense			ENST00000405460.2	1	1	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	33	5.228007	0.95173	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.38887	1.11;1.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.62891	-0.6758	9	.	.	.	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1378;5717;1378	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	G	5717;5717;1378	ENSP00000384582:E5717G;ENSP00000392618:E1378G	.	E	+	2	0	GPR98	90180340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.602000	0.90868	2.279000	0.76181	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	0	21	206	0	58	0	9.606987e-03	0	2	0	58	2		0	0	0	0	0	2	1	9.999979e-01	20	204	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.710000	1.000000	1.000000	0.962110	0.990000	1	8.900000e-01	1
SEMA5A	9037	broad.mit.edu	37	5	9122771	9122771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9122771G>A	ENST00000382496.5	-	14	2443	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A			81					GGCACACCTGGAACAGTTGGC	0.567000																								0							SO:0001583	missense			ENST00000382496.5	1	1	hg19	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509239	0.85282	.	.	ENSG00000112902	ENST00000382496	T	0.37584	1.19	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60000	-0.7348	10	0.87932	D	0	.	15.7617	0.78087	0.0:0.0:1.0:0.0	.	593	Q13591	SEM5A_HUMAN	F	593	ENSP00000371936:S593F	ENSP00000371936:S593F	S	-	2	0	SEMA5A	9175771	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.587000	0.98229	2.388000	0.81334	0.557000	0.71058	TCC		TCGA-IB-7651-01A-11D-2154-08	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	1	0	1	64	263	0	51	0	9.709633e-01	0	26	0	51	2		0	0	0	0	0	2	1	1	64	260	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA5A	9037	broad.mit.edu	37	5	9154665	9154665	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154665G>A	ENST00000382496.5	-	12	2081	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	p.F472F(1)		81					GCAGGCCCACGAACAGGACAC	0.612000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000382496.5	1	1	hg19	CCDS3875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	1	0	1	89	382	0	94	0	8.782421e-01	0	18	0	94	2		0	0	0	0	0	2	1	1	89	376	0	91	2								-3.165979	1	1	121412	2	39	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA5A	9037	broad.mit.edu	37	5	9154803	9154803	+	Silent	SNP	G	G	A	rs1806150	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154803G>A	ENST00000382496.5	-	12	1943	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A			81					TAATGGTTCCGTAATCTATGA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000382496.5	1	0	hg19	CCDS3875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	1	0	1	65	319	0	79	0	9.856832e-01	0	35	0	79	2		0	0	0	0	0	2	1	1	64	316	0	79	2								-3.253053	1	1	121406	37	47	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA5A	9037	broad.mit.edu	37	5	9197373	9197373	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9197373G>A	ENST00000382496.5	-	10	1640	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A			81					GCGCGATGGCGCTCAGGTTGA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000382496.5	1	1	hg19	CCDS3875.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	0	0	0	123	498	0	93	0	9.694649e-01	1	24	0	93	2		0	0	0	0	0	2	1	1	122	494	0	93	2								-20.000000	1	1	121412	1	37	1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR2F1	7025	broad.mit.edu	37	5	92923924	92923924	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:92923924C>A	ENST00000327111.3	+	2	2452	c.765C>A	c.(763-765)acC>acA	p.T255T	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1			21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)			TACGCCTCACCTGGAGCGAGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000327111.3	1	1	hg19	CCDS4068.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	1	0	1	90	379	0	100	0	9.973766e-01	0	40	0	100	2		0	0	0	0	0	2	1	1	89	370	0	100	2								-3.260742	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POU5F2	134187	broad.mit.edu	37	5	93076496	93076496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:93076496G>A	ENST00000510627.4	-	1	847	c.774C>T	c.(772-774)ttC>ttT	p.F258F	FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2					all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)			TGCGGTTATAGAACCAAACTC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000510627.4	1	1	hg19	CCDS59489.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	1	0	1	19	86	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.999924e-01	18	82	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999891	0.990000	1	9.900000e-01	1
SEMA5A	9037	broad.mit.edu	37	5	9380032	9380032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9380032C>T	ENST00000382496.5	-	3	692	c.27G>A	c.(25-27)tgG>tgA	p.W9*	CTD-2201E9.4_ENST00000511310.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A			81					TTGAGAACAGCCATGCTATAA	0.547000																								0							SO:0001587	stop_gained			ENST00000382496.5	0	1	hg19	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.079159	0.98048	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	.	.	.	5.43	5.43	0.79202	.	0.100355	0.42821	D	0.000643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7345	0.69406	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000371936:W9X	W	-	3	0	SEMA5A	9433032	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.511000	0.45476	2.551000	0.86045	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	1	0	1	84	455	0	100	0	7.673847e-01	0	17	0	100	2		0	0	0	0	0	2	1	1	83	445	0	100	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCTP1	79772	broad.mit.edu	37	5	94619986	94619986	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94619986G>A	ENST00000515393.1	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1			41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)			AGCAGCACAGGTTGGGCTGCG	0.701000																								0							SO:0001819	synonymous_variant			ENST00000515393.1	1	1	hg19	CCDS34203.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	1	0	0	63	225	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	63	220	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC37	9652	broad.mit.edu	37	5	94814107	94814107	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94814107C>A	ENST00000358746.2	-	40	4550	c.4252G>T	c.(4252-4254)Gct>Tct	p.A1418S		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37			47					ATCTCTGCAGCTCTCATCATT	0.443000																								0							SO:0001583	missense			ENST00000358746.2	1	1	hg19	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	c	19.19	3.778824	0.70107	.	.	ENSG00000198677	ENST00000358746	T	0.63913	-0.07	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.239529	0.43260	D	0.000592	T	0.58637	0.2136	L	0.27053	0.805	0.28065	N	0.932795	P	0.45283	0.855	P	0.48598	0.583	T	0.51568	-0.8689	10	0.13853	T	0.58	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	1418	Q6PGP7	TTC37_HUMAN	S	1418	ENSP00000351596:A1418S	ENSP00000351596:A1418S	A	-	1	0	TTC37	94839863	0.999000	0.42202	0.991000	0.47740	0.916000	0.54674	4.296000	0.59055	2.686000	0.91538	0.645000	0.84053	GCT		TCGA-IB-7651-01A-11D-2154-08	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	1	0	1	59	318	0	73	1	1	37	119	0	73	2		0	0	0	0	0	2	1	1	58	309	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC37	9652	broad.mit.edu	37	5	94818235	94818235	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94818235A>G	ENST00000358746.2	-	39	4452	c.4154T>C	c.(4153-4155)gTa>gCa	p.V1385A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37			47					TTCTTCAAGTACAGCATCTGG	0.408000																								0							SO:0001583	missense			ENST00000358746.2	1	1	hg19	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407050	0.42715	.	.	ENSG00000198677	ENST00000358746	T	0.50548	0.74	5.83	4.68	0.58851	Tetratricopeptide-like helical (1);	0.174489	0.49305	N	0.000142	T	0.28499	0.0705	N	0.20986	0.625	0.40485	D	0.980488	B	0.22146	0.065	B	0.16289	0.015	T	0.11991	-1.0565	10	0.02654	T	1	.	11.8182	0.52224	0.9318:0.0:0.0682:0.0	.	1385	Q6PGP7	TTC37_HUMAN	A	1385	ENSP00000351596:V1385A	ENSP00000351596:V1385A	V	-	2	0	TTC37	94843991	0.971000	0.33674	0.692000	0.30179	0.975000	0.68041	5.220000	0.65267	1.045000	0.40225	-0.256000	0.11100	GTA		TCGA-IB-7651-01A-11D-2154-08	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	1	0	1	122	596	0	175	1	1	41	118	0	175	2		0	0	0	0	0	2	1	1	120	583	0	173	2								-20.000000	1	1	121412	1	37	1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC37	9652	broad.mit.edu	37	5	94877557	94877557	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94877557C>T	ENST00000358746.2	-	6	586	c.288G>A	c.(286-288)ttG>ttA	p.L96L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37			47					AAACACCAGGCAAGTCATCCT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000358746.2	1	1	hg19	CCDS4072.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	0	0	0	7	204	0	46	0	7.123780e-01	0	72	0	46	2		0	0	0	0	0	2	1	9.808087e-01	7	203	0	46	2								-3.657745	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.420000	0.180000	1.000000	0.380000	0.476376	0.420000	0	2.800000e-01	6.400000e-01
ARSK	153642	broad.mit.edu	37	5	94901721	94901721	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94901721A>G	ENST00000380009.4	+	2	351	c.146A>G	c.(145-147)cAt>cGt	p.H49R		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K			16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)			TTAACATTTCATCCAGGAAGT	0.323000																								0							SO:0001583	missense			ENST00000380009.4	1	1	hg19	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426397	0.25726	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.99887	-7.53	6.17	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.399540	0.29638	N	0.011585	D	0.99052	0.9675	N	0.25647	0.755	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.99984	1.3018	10	0.25751	T	0.34	-5.2358	7.7932	0.29133	0.6385:0.1248:0.0:0.2367	.	49	Q6UWY0	ARSK_HUMAN	R	49	ENSP00000369346:H49R	ENSP00000369346:H49R	H	+	2	0	ARSK	94927477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.829000	0.55760	1.130000	0.42092	0.533000	0.62120	CAT		TCGA-IB-7651-01A-11D-2154-08	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	1	0	1	29	98	0	29	0	9.331966e-01	0	18	0	29	2		0	0	0	0	0	2	1	1	28	98	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPATA9	83890	broad.mit.edu	37	5	95011277	95011277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95011277C>T	ENST00000274432.8	-	3	358	c.217G>A	c.(217-219)Gca>Aca	p.A73T	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9			7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)			ATTAATGTTGCTCGATTAATC	0.403000																								0							SO:0001583	missense			ENST00000274432.8	1	1	hg19	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049475	0.01981	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.45668	0.89	4.91	-1.22	0.09494	.	0.750081	0.12247	N	0.486018	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.14868	-1.0457	10	0.29301	T	0.29	-2.4842	2.8354	0.05513	0.1166:0.4832:0.1141:0.286	.	73	Q9BWV2	SPAT9_HUMAN	T	73	ENSP00000274432:A73T	ENSP00000274432:A73T	A	-	1	0	SPATA9	95037033	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.809000	0.27168	-0.645000	0.05458	-2.879000	0.00098	GCA		TCGA-IB-7651-01A-11D-2154-08	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	1	0	1	47	252	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	45	246	0	69	2								-19.999890	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RHOBTB3	22836	broad.mit.edu	37	5	95072759	95072759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95072759C>T	ENST00000379982.3	+	3	903	c.395C>T	c.(394-396)gCt>gTt	p.A132V		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3			16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)			ATTATTGCTGCTGTTGGTACC	0.269000																								0							SO:0001583	missense			ENST00000379982.3	1	1	hg19	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151418	0.94645	.	.	ENSG00000164292	ENST00000506959;ENST00000379982	T;T	0.71461	-0.57;-0.57	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.84314	0.0512	10	0.62326	D	0.03	-17.047	20.1013	0.97878	0.0:1.0:0.0:0.0	.	132	O94955	RHBT3_HUMAN	V	138;132	ENSP00000423688:A138V;ENSP00000369318:A132V	ENSP00000369318:A132V	A	+	2	0	RHOBTB3	95098515	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.757000	0.68766	2.841000	0.97950	0.637000	0.83480	GCT		TCGA-IB-7651-01A-11D-2154-08	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	1	0	1	55	278	0	72	0	9.999738e-01	0	81	0	72	2		0	0	0	0	0	2	1	1	54	274	0	72	2								-3.345003	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOBTB3	22836	broad.mit.edu	37	5	95091253	95091253	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95091253A>C	ENST00000379982.3	+	6	1344	c.836A>C	c.(835-837)cAt>cCt	p.H279P	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3			16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)			GCTGTAAGCCATGTTTTCATG	0.433000																								0							SO:0001583	missense			ENST00000379982.3	1	1	hg19	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609307	0.46527	.	.	ENSG00000164292	ENST00000379982	T	0.66638	-0.22	6.08	6.08	0.98989	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (1);	0.214991	0.49916	D	0.000126	T	0.48259	0.1490	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41520	-0.9504	10	0.27082	T	0.32	-25.0285	16.3126	0.82898	1.0:0.0:0.0:0.0	.	279	O94955	RHBT3_HUMAN	P	279	ENSP00000369318:H279P	ENSP00000369318:H279P	H	+	2	0	RHOBTB3	95117009	0.996000	0.38824	0.984000	0.44739	0.995000	0.86356	3.624000	0.54231	2.333000	0.79357	0.482000	0.46254	CAT		TCGA-IB-7651-01A-11D-2154-08	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	1	0	1	106	421	0	92	0	9.999983e-01	0	77	0	92	2		0	0	0	0	0	2	1	1	103	410	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK1	5122	broad.mit.edu	37	5	95728750	95728750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95728750G>A	ENST00000311106.3	-	14	2454	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.D692D|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1			36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	GAAGCAGCCGGTCGTCTCTGT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000311106.3	1	1	hg19	CCDS4081.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	1	0	0	259	1079	0	235	0	7.852026e-01	0	14	0	235	2		0	0	0	0	0	2	1	1	257	1041	0	233	2								-20.000000	1	0	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK1	5122	broad.mit.edu	37	5	95746599	95746599	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95746599C>A	ENST00000311106.3	-	8	1211	c.974G>T	c.(973-975)aGc>aTc	p.S325I	PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1			36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGTGTAGATGCTGTCTGTGTA	0.577000																								0							SO:0001583	missense			ENST00000311106.3	1	1	hg19	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977431	0.92982	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89485	-2.52;-2.52	5.53	5.53	0.82687	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97406	0.9999	10	0.87932	D	0	-20.7793	19.0469	0.93025	0.0:1.0:0.0:0.0	.	325	P29120	NEC1_HUMAN	I	325;278	ENSP00000308024:S325I;ENSP00000421600:S278I	ENSP00000308024:S325I	S	-	2	0	PCSK1	95772355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.584000	0.87258	0.585000	0.79938	AGC		TCGA-IB-7651-01A-11D-2154-08	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	1	0	1	167	907	0	230	0	4.773903e-01	0	10	0	230	2		0	0	0	0	0	2	1	1	164	896	0	228	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK1	5122	broad.mit.edu	37	5	95761565	95761565	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95761565T>G	ENST00000311106.3	-	3	592	c.355A>C	c.(355-357)Aat>Cat	p.N119H	PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1			36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGAAGAGATTTAGTGCTGAG	0.408000																								0							SO:0001583	missense			ENST00000311106.3	1	1	hg19	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	T	9.325	1.059137	0.19987	.	.	ENSG00000175426	ENST00000311106;ENST00000508626;ENST00000509190	T;T;T	0.67523	-0.12;-0.27;0.44	5.63	1.59	0.23543	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.178406	0.64402	D	0.000015	T	0.55940	0.1952	L	0.53561	1.675	0.31961	N	0.608354	B	0.06786	0.001	B	0.06405	0.002	T	0.54516	-0.8282	10	0.20519	T	0.43	-13.2118	10.1792	0.42957	0.0:0.2174:0.0:0.7826	.	119	P29120	NEC1_HUMAN	H	119;72;119	ENSP00000308024:N119H;ENSP00000421600:N72H;ENSP00000427294:N119H	ENSP00000308024:N119H	N	-	1	0	PCSK1	95787321	1.000000	0.71417	0.825000	0.32803	0.590000	0.36582	3.129000	0.50500	0.403000	0.25479	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	1	0	1	52	216	0	66	0	5.493527e-01	0	9	0	66	2		0	0	0	0	0	2	1	1	51	210	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAST	831	broad.mit.edu	37	5	96107374	96107374	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96107374A>C	ENST00000341926.3	+	29	2280	c.2118A>C	c.(2116-2118)aaA>aaC	p.K706N	CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000509903.1_Missense_Mutation_p.K671N|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000395813.1_Missense_Mutation_p.K789N|CAST_ENST00000515663.1_Missense_Mutation_p.K429N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000359176.4_Missense_Mutation_p.K770N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N			P20810	ICAL_HUMAN	calpastatin			22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)			CCAAGCCAAAAGATGACTAAA	0.358000																								0							SO:0001583	missense			ENST00000341926.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.49|13.49	2.252721|2.252721	0.39797|0.39797	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.24151|0.18502	1.93;1.89;1.89;1.88;1.87;1.93;1.9;1.94;1.93;1.94;1.95;1.99;1.94;1.94;2.0;1.9|2.21	5.31|5.31	1.59|1.59	0.23543|0.23543	.|.	0.251159|0.251159	0.34046|0.34046	N|N	0.004309|0.004309	T|T	0.22936|0.22936	0.0554|0.0554	M|M	0.65498|0.65498	2.005|2.005	0.49687|0.49687	D|D	0.999817|0.999817	D;D;P;B;P;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.993;0.829;0.437;0.829;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0|.	D;D;B;B;B;D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.991;0.977;0.36;0.186;0.36;0.996;0.997;0.997;0.996;0.997;0.997;0.998;0.998;0.99;0.998;0.998|.	T|T	0.02797|0.02797	-1.1109|-1.1109	10|8	0.72032|0.66056	D|D	0.01|0.02	-4.0288|-4.0288	2.8782|2.8782	0.05639|0.05639	0.6117:0.0:0.2025:0.1858|0.6117:0.0:0.2025:0.1858	.|.	634;752;429;433;428;691;671;684;665;706;754;748;770;767;789;693|.	E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	N|T	693;789;789;770;754;748;767;752;706;691;684;634;671;692;421;429|434	ENSP00000343421:K693N;ENSP00000425721:K789N;ENSP00000379158:K789N;ENSP00000352098:K770N;ENSP00000320319:K754N;ENSP00000379157:K748N;ENSP00000422176:K767N;ENSP00000422677:K752N;ENSP00000339914:K706N;ENSP00000421130:K691N;ENSP00000312523:K684N;ENSP00000425670:K634N;ENSP00000426946:K671N;ENSP00000423638:K692N;ENSP00000425787:K421N;ENSP00000422929:K429N|ENSP00000412374:K434T	ENSP00000312523:K684N|ENSP00000412374:K434T	K|K	+|+	3|2	2|0	CAST|CAST	96133130|96133130	0.824000|0.824000	0.29247|0.29247	0.484000|0.484000	0.27391|0.27391	0.215000|0.215000	0.24574|0.24574	1.298000|1.298000	0.33412|0.33412	0.406000|0.406000	0.25560|0.25560	0.397000|0.397000	0.26171|0.26171	AAA|AAG		TCGA-IB-7651-01A-11D-2154-08	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	1	0	1	74	304	0	62	1	1	364	750	0	62	2		0	0	0	0	0	2	1	1	74	302	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAS2R1	50834	broad.mit.edu	37	5	9629925	9629925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9629925C>A	ENST00000382492.2	-	1	538	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1			39					ATGATGAATTCTATGAAGAAG	0.388000																								0							SO:0001587	stop_gained			ENST00000382492.2	0	1	hg19	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524497	0.85600	.	.	ENSG00000169777	ENST00000382492	.	.	.	5.85	-0.66	0.11421	.	1.078920	0.07213	N	0.859590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5745	0.22557	0.0:0.3077:0.1431:0.5492	.	.	.	.	X	74	.	.	E	-	1	0	TAS2R1	9682925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.171000	0.10797	-0.137000	0.14449	GAA		TCGA-IB-7651-01A-11D-2154-08	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2	1	0	0	38	200	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	38	199	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.967783	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
LNPEP	4012	broad.mit.edu	37	5	96315306	96315306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96315306C>T	ENST00000231368.5	+	2	1176	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase			34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)			GAAATTGTTTCCATGGGCACA	0.463000																								0							SO:0001583	missense			ENST00000231368.5	1	1	hg19	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223506	0.58668	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04360	3.64;3.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.00477	-1.1716	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	162	Q9UIQ6	LCAP_HUMAN	S	162;148	ENSP00000231368:P162S;ENSP00000379117:P148S	ENSP00000231368:P162S	P	+	1	0	LNPEP	96341062	1.000000	0.71417	0.994000	0.49952	0.047000	0.14425	7.252000	0.78309	2.894000	0.99253	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	1	0	1	106	442	0	65	1	9.758652e-01	6	21	0	65	2		0	0	0	0	0	2	1	1	104	435	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LNPEP	4012	broad.mit.edu	37	5	96349496	96349496	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96349496A>G	ENST00000231368.5	+	12	2872	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase			34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)			AGTGACAAAGACCGAGCCAAC	0.323000																								0							SO:0001583	missense			ENST00000231368.5	1	1	hg19	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440289	0.83993	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.10099	2.91;2.91	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.13791	-1.0496	10	0.87932	D	0	.	14.618	0.68562	1.0:0.0:0.0:0.0	.	727	Q9UIQ6	LCAP_HUMAN	G	727;713	ENSP00000231368:D727G;ENSP00000379117:D713G	ENSP00000231368:D727G	D	+	2	0	LNPEP	96375252	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.791000	0.91849	1.979000	0.57680	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	1	0	1	152	650	0	139	1	9.999952e-01	17	58	0	139	2		0	0	0	0	0	2	1	1	150	642	0	139	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGMB	285704	broad.mit.edu	37	5	98129023	98129023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98129023C>T	ENST00000513185.1	+	3	1316	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	RGMB_ENST00000308234.7_Missense_Mutation_p.R335C			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b			10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)			CCTTGCCATCCGTATGCCTGA	0.612000																								0							SO:0001583	missense			ENST00000513185.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.24	3.580895	0.65992	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.88818	-2.43;-2.43	5.78	5.78	0.91487	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95388	0.8479	10	0.87932	D	0	-20.8999	19.9851	0.97342	0.0:1.0:0.0:0.0	.	294	Q6NW40	RGMB_HUMAN	C	335;294	ENSP00000308219:R335C;ENSP00000423256:R294C	ENSP00000308219:R335C	R	+	1	0	RGMB	98156923	1.000000	0.71417	0.987000	0.45799	0.080000	0.17528	4.911000	0.63328	2.727000	0.93392	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	1	0	1	29	104	0	39	1	9.973740e-01	8	29	0	39	2		0	0	0	0	0	2	1	1	28	103	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD1	1105	broad.mit.edu	37	5	98209328	98209328	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98209328T>C	ENST00000284049.3	-	25	3689	c.3540A>G	c.(3538-3540)ttA>ttG	p.L1180L	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1			49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		Epirubicin(DB00445)	AACTATCCTTTAATGCTTTAA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000284049.3	1	1	hg19	CCDS34204.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	1	0	1	54	209	0	64	1	9.999998e-01	34	58	0	64	2		0	0	0	0	0	2	1	1	53	205	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.006602	0	0.170000	2.060000	1.763013e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM13	59336	broad.mit.edu	37	6	100055036	100055036	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100055036G>A	ENST00000369215.4	+	1	431	c.126G>A	c.(124-126)gaG>gaA	p.E42E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13			17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)			ACCGCAGGGAGCCCGGGCCTA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000369215.4	1	1	hg19	CCDS43487.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	1	0	0	61	353	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	61	349	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PRDM13	59336	broad.mit.edu	37	6	100057116	100057116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100057116G>T	ENST00000369215.4	+	3	635	c.330G>T	c.(328-330)tgG>tgT	p.W110C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13			17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)			TGACAGTGTGGTATTCTAACT	0.522000																								0							SO:0001583	missense			ENST00000369215.4	0	1	hg19	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509782	0.85282	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.85702	-2.02;-2.02	5.65	5.65	0.86999	SET domain (2);	0.000000	0.36893	N	0.002347	D	0.92828	0.7719	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93241	0.6626	10	0.87932	D	0	-6.7675	19.3826	0.94543	0.0:0.0:1.0:0.0	.	110	Q9H4Q3	PRD13_HUMAN	C	110;120	ENSP00000358217:W110C;ENSP00000358216:W120C	ENSP00000358216:W120C	W	+	3	0	PRDM13	100163837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.374000	0.97172	2.689000	0.91719	0.558000	0.71614	TGG		TCGA-IB-7651-01A-11D-2154-08	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	0	0	0	6	168	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	9.632236e-01	6	164	0	34	2								-8.408831	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.420000	0.170000	0.790000	0.390000	0.448143	0.420000	0	2.800000e-01	6.000000e-01
PRDM13	59336	broad.mit.edu	37	6	100062174	100062174	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100062174G>T	ENST00000369215.4	+	4	1968	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13			17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)			ggcggcgggaggcaccggggg	0.701000																								0							SO:0001583	missense			ENST00000369215.4	0	1	hg19	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159080	0.21454	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.08546	3.08;3.08	3.73	0.86	0.19042	.	0.843515	0.09643	N	0.774793	T	0.01905	0.0060	L	0.27053	0.805	0.09310	N	1	P	0.50369	0.934	B	0.40901	0.343	T	0.42310	-0.9459	10	0.72032	D	0.01	-4.5986	4.1491	0.10230	0.1901:0.0:0.4939:0.316	.	555	Q9H4Q3	PRD13_HUMAN	C	555;565	ENSP00000358217:G555C;ENSP00000358216:G565C	ENSP00000358216:G565C	G	+	1	0	PRDM13	100168895	0.918000	0.31147	0.000000	0.03702	0.229000	0.25112	0.923000	0.28757	0.053000	0.16036	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	1	0	0	12	109	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.991573e-01	11	107	0	10	2								-19.999960	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.640000	1.000000	1.000000	0.950942	0.990000	1	8.600000e-01	1
MCHR2	84539	broad.mit.edu	37	6	100395675	100395675	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100395675C>T	ENST00000281806.2	-	3	669	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	MCHR2_ENST00000369212.2_Missense_Mutation_p.A119T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2			39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)			GCACTACAGGCAAATTGGTTA	0.468000																								0							SO:0001583	missense			ENST00000281806.2	1	1	hg19	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	7.607	0.673964	0.14841	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.76060	-0.99;-0.99;-0.99	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.50017	0.1591	L	0.35249	1.045	0.40742	D	0.982849	B	0.27140	0.169	B	0.38194	0.267	T	0.51834	-0.8655	10	0.02654	T	1	.	14.8815	0.70537	0.0:1.0:0.0:0.0	.	119	Q969V1	MCHR2_HUMAN	T	119	ENSP00000403490:A119T;ENSP00000281806:A119T;ENSP00000358214:A119T	ENSP00000281806:A119T	A	-	1	0	MCHR2	100502396	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.089000	0.63090	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	1	0	1	142	749	0	184		0	0	0	0	184	2		0	0	0	0	0	2	1	1	138	735	0	183	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIM1	6492	broad.mit.edu	37	6	100897277	100897277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100897277C>T	ENST00000369208.3	-	6	1287	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SIM1_ENST00000262901.4_Missense_Mutation_p.A169T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1			79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)			TTACGCTTGGCCAAGACGCAC	0.632000																								0							SO:0001583	missense			ENST00000369208.3	1	1	hg19	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398956	0.83120	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.13307	2.6;2.6	5.54	5.54	0.83059	.	0.287742	0.38058	N	0.001823	T	0.18467	0.0443	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03278	-1.1053	10	0.10636	T	0.68	.	19.4675	0.94948	0.0:1.0:0.0:0.0	.	169	P81133	SIM1_HUMAN	T	169	ENSP00000358210:A169T;ENSP00000262901:A169T	ENSP00000262901:A169T	A	-	1	0	SIM1	101003998	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.602000	0.87976	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	1	0	1	21	133	0	36	0	5.570302e-02	0	3	0	36	2		0	0	0	0	0	2	1	9.999982e-01	21	130	0	35	2								-3.232585	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998101	0.990000	1	9.900000e-01	1
ASCC3	10973	broad.mit.edu	37	6	101054895	101054895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101054895G>A	ENST00000369162.2	-	31	5199	c.4855C>T	c.(4855-4857)Cat>Tat	p.H1619Y		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3			92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)			CCAGCATGATGCATTCCTATC	0.383000																								0							SO:0001583	missense			ENST00000369162.2	1	1	hg19	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923127	0.92319	.	.	ENSG00000112249	ENST00000369162	D	0.91843	-2.92	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93604	0.6933	10	0.21014	T	0.42	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1619	Q8N3C0	HELC1_HUMAN	Y	1619	ENSP00000358159:H1619Y	ENSP00000358159:H1619Y	H	-	1	0	ASCC3	101161616	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.693000	0.98684	2.753000	0.94483	0.585000	0.79938	CAT		TCGA-IB-7651-01A-11D-2154-08	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	1	0	1	50	231	0	42	1	9.999997e-01	31	77	0	42	2		0	0	0	0	0	2	1	1	48	226	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASCC3	10973	broad.mit.edu	37	6	101075801	101075801	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101075801T>C	ENST00000369162.2	-	28	4782	c.4438A>G	c.(4438-4440)Aca>Gca	p.T1480A		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3			92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)			GGCTTTTCTGTGTGTGATGAG	0.373000																								0							SO:0001583	missense			ENST00000369162.2	1	1	hg19	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600735	0.87055	.	.	ENSG00000112249	ENST00000369162	T	0.58060	0.36	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59397	-0.7462	10	0.33940	T	0.23	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1480	Q8N3C0	HELC1_HUMAN	A	1480	ENSP00000358159:T1480A	ENSP00000358159:T1480A	T	-	1	0	ASCC3	101182522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	0	0	1	52	242	0	52	1	9.998515e-01	12	52	0	52	2		0	0	0	0	0	2	1	1	50	236	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASCC3	10973	broad.mit.edu	37	6	101215160	101215160	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101215160T>C	ENST00000369162.2	-	9	1801	c.1457A>G	c.(1456-1458)gAg>gGg	p.E486G	ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3			92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)			GTAGGCAGTCTCAAACACTAT	0.398000																								0							SO:0001583	missense			ENST00000369162.2	1	1	hg19	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472368	0.63737	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.15952	2.38;2.38	5.25	5.25	0.73442	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.117651	0.56097	D	0.000029	T	0.17023	0.0409	M	0.83603	2.65	0.80722	D	1	B;B	0.33940	0.183;0.433	B;B	0.35353	0.184;0.201	T	0.02257	-1.1187	10	0.52906	T	0.07	.	15.4376	0.75157	0.0:0.0:0.0:1.0	.	486;486	E7EW23;Q8N3C0	.;HELC1_HUMAN	G	486	ENSP00000358159:E486G;ENSP00000430769:E486G	ENSP00000358159:E486G	E	-	2	0	ASCC3	101321881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	2.122000	0.65172	0.482000	0.46254	GAG		TCGA-IB-7651-01A-11D-2154-08	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	1	0	1	107	500	0	83	1	9.982001e-01	12	34	0	83	2		0	0	0	0	0	2	1	1	106	492	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIK2	2898	broad.mit.edu	37	6	102074437	102074437	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102074437C>A	ENST00000421544.1	+	3	956	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	GRIK2_ENST00000369138.1_Missense_Mutation_p.L156I|GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2			83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTTCTCTTCACTCAGCCGTGC	0.468000																								0							SO:0001583	missense			ENST00000421544.1	1	1	hg19	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352039	0.41700	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.79	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	L	0.31752	0.955	0.40380	D	0.979436	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.30401	0.07;0.115;0.049	T	0.65265	-0.6210	10	0.19590	T	0.45	.	16.1759	0.81851	0.1345:0.8655:0.0:0.0	.	156;156;156	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	156;156;156;156;156;156;156;107;118	ENSP00000397026:L156I;ENSP00000405596:L156I;ENSP00000358134:L156I;ENSP00000351128:L156I;ENSP00000358133:L156I;ENSP00000313276:L156I;ENSP00000358130:L107I	ENSP00000313276:L156I	L	+	1	0	GRIK2	102181130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.541000	0.60670	1.404000	0.46819	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	1	0	1	76	355	0	89	0	3.196007e-02	0	2	0	89	2		0	0	0	0	0	2	1	1	75	353	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIK2	2898	broad.mit.edu	37	6	102266352	102266352	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102266352C>A	ENST00000421544.1	+	9	1801	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	GRIK2_ENST00000369138.1_Silent_p.T437T|GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000318991.6_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T|GRIK2_ENST00000369134.4_Silent_p.T388T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2			83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTGTTACCACCATTTTGGTAA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000421544.1	1	1	hg19	CCDS5048.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	1	0	1	27	123	0	40	0	9.004658e-02	0	3	0	40	2		0	0	0	0	0	2	1	1	27	122	0	40	2								-16.915120	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
GRIK2	2898	broad.mit.edu	37	6	102376473	102376473	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102376473C>T	ENST00000421544.1	+	13	2541	c.2051C>T	c.(2050-2052)gCa>gTa	p.A684V	GRIK2_ENST00000369138.1_Missense_Mutation_p.A684V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2			83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAATATGGAGCAGTAGAGGAT	0.393000																								0							SO:0001583	missense			ENST00000421544.1	1	1	hg19	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625228	0.46840	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134	T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1	5.9	5.9	0.94986	Ionotropic glutamate receptor (2);	0.056708	0.64402	D	0.000001	T	0.02455	0.0075	N	0.03881	-0.34	0.45227	D	0.998232	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.15052	0.012;0.012;0.007	T	0.51537	-0.8693	10	0.48119	T	0.1	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	684;684;684	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	684;684;684;608;684;635	ENSP00000397026:A684V;ENSP00000405596:A684V;ENSP00000358134:A684V;ENSP00000358133:A608V;ENSP00000313276:A684V;ENSP00000358130:A635V	ENSP00000313276:A684V	A	+	2	0	GRIK2	102483166	1.000000	0.71417	0.953000	0.39169	0.995000	0.86356	5.612000	0.67681	2.786000	0.95864	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	1	0	1	38	221	0	37	0	2.263954e-02	0	2	0	37	2		0	0	0	0	0	2	1	1	37	218	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999956	0.990000	1	9.900000e-01	1
TFAP2A	7020	broad.mit.edu	37	6	10419699	10419699	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10419699C>A	ENST00000319516.4	-	0	172					NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)			13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)			CTCTGCGCTCCTGGCGACTGG	0.632000																								0											ENST00000319516.4	0	1	hg19	CCDS43422.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TFAP2A-003	KNOWN	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039817.2	0	0	0	33	430	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	33	426	0	80	2								-2.920853	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.820000	0.580000	1.000000	1.000000	0.827650	0.820000	0	6.900000e-01	9.700000e-01
HACE1	57531	broad.mit.edu	37	6	105198220	105198220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198220T>G	ENST00000262903.4	-	20	2615	c.2339A>C	c.(2338-2340)gAa>gCa	p.E780A	HACE1_ENST00000369125.2_Missense_Mutation_p.E565A|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1			44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)			CCTTACCAATTCATATTCATC	0.343000																								0							SO:0001583	missense			ENST00000262903.4	1	1	hg19	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443659	0.83993	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.65916	-0.18;-0.18	5.3	5.3	0.74995	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.89840	3.065	0.34930	D	0.749238	D;D;D;D	0.89917	1.0;1.0;0.979;0.974	D;D;D;D	0.97110	1.0;0.999;0.973;0.953	D	0.85522	0.1204	10	0.87932	D	0	.	15.227	0.73359	0.0:0.0:0.0:1.0	.	565;269;780;433	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	A	780;565	ENSP00000262903:E780A;ENSP00000358121:E565A	ENSP00000262903:E780A	E	-	2	0	HACE1	105304913	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.565000	0.82337	2.000000	0.58554	0.460000	0.39030	GAA		TCGA-IB-7651-01A-11D-2154-08	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	1	0	1	31	105	0	28	1	9.989533e-01	15	25	0	28	2		0	0	0	0	0	2	1	1	31	105	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HACE1	57531	broad.mit.edu	37	6	105198346	105198346	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198346G>A	ENST00000262903.4	-	20	2489	c.2213C>T	c.(2212-2214)gCg>gTg	p.A738V	HACE1_ENST00000369125.2_Splice_Site_p.A523V|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1			44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)			GACGTACTCCGCCTGTTGAAA	0.338000																								0							SO:0001630	splice_region_variant			ENST00000262903.4	1	0	hg19	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001598	0.35320	0.0	1.16E-4	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.58358	0.34;0.34	5.0	4.11	0.48088	HECT (4);	0.104471	0.64402	D	0.000004	T	0.27205	0.0667	N	0.21545	0.675	0.28259	N	0.924912	P;B;D;D	0.56035	0.67;0.318;0.974;0.968	P;B;P;B	0.46917	0.531;0.083;0.469;0.339	T	0.09684	-1.0663	10	0.27082	T	0.32	.	14.9715	0.71238	0.0:0.0:0.8559:0.1441	.	523;227;738;391	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	V	738;523	ENSP00000262903:A738V;ENSP00000358121:A523V	ENSP00000262903:A738V	A	-	2	0	HACE1	105305039	1.000000	0.71417	0.983000	0.44433	0.822000	0.46500	6.021000	0.70832	1.196000	0.43129	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	1	0	1	36	144	0	29	1	9.769280e-01	7	20	0	29	2		0	0	0	0	0	2	1	1	35	141	0	29	2								-20.000000	1	1	121408	4	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCNT2	2651	broad.mit.edu	37	6	10529724	10529724	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10529724G>T	ENST00000379597.3	+	1	1136	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)			12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)			CTGCGGGCAAGACTTTCCCCT	0.527000																								0							SO:0001583	missense			ENST00000379597.3	1	1	hg19	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167435	0.78339	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.23552	1.9;1.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73714	-0.3896	10	0.87932	D	0	-15.1425	19.2323	0.93845	0.0:0.0:1.0:0.0	.	194;193	Q8N0V5;Q08M29	GNT2A_HUMAN;.	Y	194	ENSP00000419411:D194Y;ENSP00000368917:D194Y	ENSP00000368917:D194Y	D	+	1	0	GCNT2	10637710	1.000000	0.71417	0.979000	0.43373	0.542000	0.35054	9.640000	0.98453	2.636000	0.89361	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	1	0	1	26	260	0	65	0	7.402919e-02	0	5	0	65	2		0	0	0	0	0	2	1	9.999999e-01	26	256	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.710000	1.000000	1.000000	0.952506	0.990000	1	8.600000e-01	1
BVES	11149	broad.mit.edu	37	6	105549001	105549001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105549001G>A	ENST00000314641.5	-	8	1262	c.1046C>T	c.(1045-1047)gCa>gTa	p.A349V	BVES_ENST00000446408.2_Missense_Mutation_p.A349V|BVES_ENST00000336775.5_Missense_Mutation_p.A349V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance			21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)			ATTTGGAGATGCCGGTTCAAA	0.453000																								0							SO:0001583	missense			ENST00000314641.5	1	1	hg19	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726162	0.30593	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17691	2.26;2.26;2.26	5.3	-5.02	0.02982	.	1.955520	0.02132	N	0.056510	T	0.01287	0.0042	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37641	-0.9697	10	0.11794	T	0.64	-11.7194	8.1452	0.31108	0.2685:0.0:0.5878:0.1437	.	349	Q8NE79	POPD1_HUMAN	V	349	ENSP00000313172:A349V;ENSP00000337259:A349V;ENSP00000397310:A349V	ENSP00000313172:A349V	A	-	2	0	BVES	105655694	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.463000	0.02361	-0.393000	0.07739	-0.300000	0.09419	GCA		TCGA-IB-7651-01A-11D-2154-08	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	1	0	1	77	275	0	53	0	6.198377e-01	0	9	0	53	2		0	0	0	0	0	2	1	1	77	269	0	53	2								-4.066694	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PREP	5550	broad.mit.edu	37	6	105726037	105726037	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105726037G>A	ENST00000369110.3	-	15	2307	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase			29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)		Oxytocin(DB00107)	TCCAGTCGACGTTCAGGCACC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000369110.3	1	1	hg19	CCDS5053.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1	1	0	0	201	860	0	218	1	1	182	164	0	218	2		0	0	0	0	0	2	1	1	196	843	0	215	2								-20.000000	1	1	121412	43	53	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM1	639	broad.mit.edu	37	6	106553699	106553699	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106553699A>G	ENST00000369096.4	+	5	1898	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S	PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S|PRDM1_ENST00000369091.2_Missense_Mutation_p.N519S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain			94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)			AACAAAAGAAACATGACCGGC	0.547000			D, N, Mis, F, S		DLBCL										Rec	yes		6	6q21	639	PR domain containing 1, with ZNF domain		L	0							SO:0001583	missense			ENST00000369096.4	1	1	hg19	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674326	0.47781	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.06687	3.29;3.27;3.29	5.74	5.74	0.90152	.	0.125824	0.85682	D	0.000000	T	0.04363	0.0120	L	0.48362	1.52	0.51012	D	0.999903	B;B	0.28128	0.112;0.201	B;B	0.27715	0.053;0.082	T	0.35724	-0.9777	10	0.22706	T	0.39	-47.0413	16.0421	0.80691	1.0:0.0:0.0:0.0	.	421;555	Q86WM7;O75626	.;PRDM1_HUMAN	S	519;555;518;421	ENSP00000358087:N519S;ENSP00000358092:N555S;ENSP00000358085:N421S	ENSP00000358085:N421S	N	+	2	0	PRDM1	106660392	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	4.211000	0.58507	2.192000	0.70111	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3	1	0	1	60	302	0	78	1	9.999539e-01	14	62	0	78	2		0	0	0	0	0	2	1	1	59	292	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM1	639	broad.mit.edu	37	6	106554877	106554877	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106554877C>T	ENST00000369096.4	+	7	2228	c.1994C>T	c.(1993-1995)cCt>cTt	p.P665L	PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L|PRDM1_ENST00000369091.2_Missense_Mutation_p.P629L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain			94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)			AAGGTGTGCCCTGCCAAGTTC	0.542000			D, N, Mis, F, S		DLBCL										Rec	yes		6	6q21	639	PR domain containing 1, with ZNF domain		L	0							SO:0001583	missense			ENST00000369096.4	1	1	hg19	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535259	0.64972	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07216	3.21;3.21;3.21	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.35414	1.06	0.80722	D	1	B;B	0.28128	0.1;0.201	B;B	0.36092	0.155;0.217	T	0.24977	-1.0145	10	0.72032	D	0.01	-14.8534	20.6208	0.99490	0.0:1.0:0.0:0.0	.	531;665	Q86WM7;O75626	.;PRDM1_HUMAN	L	629;665;628;531	ENSP00000358087:P629L;ENSP00000358092:P665L;ENSP00000358085:P531L	ENSP00000358085:P531L	P	+	2	0	PRDM1	106661570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.045000	0.71020	2.882000	0.98803	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3	1	0	1	152	649	0	150	1	9.999582e-01	4	59	0	150	2		0	0	0	0	0	2	1	1	151	636	0	150	2								-3.001059	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AIM1	202	broad.mit.edu	37	6	106967596	106967596	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106967596T>C	ENST00000369066.3	+	2	1776	c.1289T>C	c.(1288-1290)aTc>aCc	p.I430T		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1			69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)		GCACAAGACATCCCCACCACT	0.483000																								0							SO:0001583	missense			ENST00000369066.3	1	1	hg19	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752937	0.31046	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71461	-0.57	5.84	-7.45	0.01374	.	1.852220	0.02798	N	0.122911	T	0.25457	0.0619	N	0.25647	0.755	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.07966	-1.0745	10	0.09590	T	0.72	.	6.5901	0.22642	0.1018:0.1453:0.5885:0.1644	.	430	Q9Y4K1	AIM1_HUMAN	T	838;430	ENSP00000358062:I430T	ENSP00000285105:I838T	I	+	2	0	AIM1	107074289	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.901000	0.04093	-0.506000	0.06558	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	1	0	1	84	353	0	95	1	9.999978e-01	45	36	0	95	2		0	0	0	0	0	2	1	1	80	347	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AIM1	202	broad.mit.edu	37	6	106968895	106968895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106968895G>A	ENST00000369066.3	+	2	3075	c.2588G>A	c.(2587-2589)aGt>aAt	p.S863N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1			69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)		ACGGCTTTCAGTACTTCTCAG	0.448000																								0							SO:0001583	missense			ENST00000369066.3	1	1	hg19	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596516	0.46318	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72615	-0.67	5.99	5.12	0.69794	.	1.354340	0.04133	N	0.318282	T	0.51958	0.1705	L	0.57536	1.79	0.80722	D	1	P	0.38922	0.651	B	0.29785	0.107	T	0.54289	-0.8316	10	0.44086	T	0.13	.	10.16	0.42847	0.1977:0.0:0.8023:0.0	.	863	Q9Y4K1	AIM1_HUMAN	N	1271;863	ENSP00000358062:S863N	ENSP00000285105:S1271N	S	+	2	0	AIM1	107075588	1.000000	0.71417	0.972000	0.41901	0.967000	0.64934	1.573000	0.36472	1.544000	0.49359	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	1	0	1	83	319	0	71	1	1	48	66	0	71	2		0	0	0	0	0	2	1	1	81	314	0	70	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAK1IP1	55003	broad.mit.edu	37	6	10697608	10697608	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10697608T>C	ENST00000379568.3	+	2	427	c.136T>C	c.(136-138)Tca>Cca	p.S46P	C6orf52_ENST00000379586.1_5'Flank|C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000460742.2_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1			12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)			TGCCTCCTTGTCAGCAGTAGC	0.428000																								0							SO:0001583	missense			ENST00000379568.3	0	1	hg19	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.764973	0.69878	.	.	ENSG00000111845	ENST00000379568	T	0.61859	0.07	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.182898	0.48767	D	0.000172	T	0.67979	0.2951	M	0.79805	2.47	0.45648	D	0.998575	D	0.69078	0.997	D	0.70227	0.968	T	0.68780	-0.5318	10	0.30854	T	0.27	-14.3107	13.4803	0.61332	0.0:0.0:0.0:1.0	.	46	Q9NWT1	PK1IP_HUMAN	P	46	ENSP00000368887:S46P	ENSP00000368887:S46P	S	+	1	0	PAK1IP1	10805594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.817000	0.55668	2.066000	0.61787	0.528000	0.53228	TCA		TCGA-IB-7651-01A-11D-2154-08	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	0	0	0	16	838	0	147	1	4.766527e-01	2	80	0	147	2		0	0	0	0	0	2	1	9.999199e-01	16	821	0	147	2								-3.029676	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.210000	0.120000	0.340000	0.220000	0.228627	0.210000	0	1.600000e-01	2.800000e-01
BEND3	57673	broad.mit.edu	37	6	107390904	107390904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107390904G>T	ENST00000369042.1	-	4	1681	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E	BEND3_ENST00000429433.2_Missense_Mutation_p.D497E			Q5T5X7	BEND3_HUMAN	BEN domain containing 3			30					AGTCGTAGCAGTCATCACGCG	0.672000																								0							SO:0001583	missense			ENST00000369042.1	1	1	hg19	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741071	0.30865	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	5.06	0.68205	.	0.052952	0.85682	D	0.000000	T	0.16981	0.0408	N	0.11560	0.145	0.38325	D	0.943639	B	0.23316	0.083	B	0.22386	0.039	T	0.07158	-1.0787	9	0.31617	T	0.26	-25.2658	9.3142	0.37924	0.1577:0.0:0.8423:0.0	.	497	Q5T5X7	BEND3_HUMAN	E	497	.	ENSP00000358038:D497E	D	-	3	2	BEND3	107497597	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	0.922000	0.28734	2.625000	0.88918	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	1	0	1	47	236	0	52	1	7.651193e-02	2	1	0	52	2		0	0	0	0	0	2	1	1	47	234	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TMEM14B	81853	broad.mit.edu	37	6	10751401	10751401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10751401G>A	ENST00000379542.5	+	4	303	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	TMEM14B_ENST00000379530.3_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000467317.1_Missense_Mutation_p.G46S|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B			11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)			GCTGCTCTTCGGCAGTCTAGC	0.542000																								0							SO:0001583	missense			ENST00000379542.5	1	1	hg19	CCDS4515.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625308	0.46840	.	.	ENSG00000137210	ENST00000472062;ENST00000379542;ENST00000475942;ENST00000467317	T;T;T	0.66815	-0.23;-0.23;-0.23	4.01	3.14	0.36123	.	0.103324	0.64402	D	0.000003	T	0.63474	0.2514	M	0.70275	2.135	0.80722	D	1	P	0.51791	0.948	P	0.52267	0.694	T	0.67229	-0.5723	10	0.52906	T	0.07	.	11.473	0.50280	0.0903:0.0:0.9097:0.0	.	46	Q9NUH8	TM14B_HUMAN	S	46	ENSP00000368858:G46S;ENSP00000418730:G46S;ENSP00000420658:G46S	ENSP00000368858:G46S	G	+	1	0	TMEM14B	10859387	1.000000	0.71417	0.040000	0.18447	0.008000	0.06430	7.238000	0.78173	1.037000	0.40024	0.484000	0.47621	GGC		TCGA-IB-7651-01A-11D-2154-08	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	0	0	0	10	450	0	118	1	9.982255e-01	21	489	0	118	2		0	0	0	0	0	2	1	9.966634e-01	10	442	0	118	2								-2.515413	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.250000	0.130000	0.440000	0.250000	0.272616	0.250000	0	1.800000e-01	3.500000e-01
SOBP	55084	broad.mit.edu	37	6	107854756	107854756	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107854756G>T	ENST00000317357.5	+	4	1174	c.515G>T	c.(514-516)aGc>aTc	p.S172I		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)			26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)			GAGGTGAAAAGCTTCTGCAGC	0.507000																								0							SO:0001583	missense			ENST00000317357.5	1	1	hg19	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725865	0.69074	.	.	ENSG00000112320	ENST00000317357	T	0.24538	1.85	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.20685	0.6	0.80722	D	1	P	0.49783	0.928	P	0.51135	0.66	T	0.02365	-1.1170	10	0.23891	T	0.37	-14.0437	19.5093	0.95135	0.0:0.0:1.0:0.0	.	172	A7XYQ1	SOBP_HUMAN	I	172	ENSP00000318900:S172I	ENSP00000318900:S172I	S	+	2	0	SOBP	107961449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.615000	0.88500	0.467000	0.42956	AGC		TCGA-IB-7651-01A-11D-2154-08	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	1	0	1	160	627	0	130	0	7.342914e-01	0	12	0	130	2		0	0	0	0	0	2	1	1	158	618	0	128	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOBP	55084	broad.mit.edu	37	6	107955419	107955419	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955419G>A	ENST00000317357.5	+	6	2030	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)			26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)			CCATGCTATCGCCCCACATCC	0.751000																								0							SO:0001819	synonymous_variant			ENST00000317357.5	1	1	hg19	CCDS43488.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	1	0	0	34	136	0	26	0	3.530712e-01	0	6	0	26	2		0	0	0	0	0	2	1	1	33	132	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SOBP	55084	broad.mit.edu	37	6	107955830	107955830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955830C>T	ENST00000317357.5	+	6	2441	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)			26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)			CGTCCAAGTCCGCGGACTCGC	0.756000																								0							SO:0001819	synonymous_variant			ENST00000317357.5	1	1	hg19	CCDS43488.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	1	0	0	23	70	0	14	0	0	0	1	0	14	2		0	0	0	0	0	2	1	9.999997e-01	23	67	0	13	2								-20.000000	1	1	116374	2	26	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
SOBP	55084	broad.mit.edu	37	6	107956367	107956367	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956367G>T	ENST00000317357.5	+	6	2978	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)			26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)			CGGTCAAGGAGAATAACTGTG	0.687000																								0							SO:0001583	missense			ENST00000317357.5	1	1	hg19	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136500	0.77662	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.52983	0.64	4.15	4.15	0.48705	.	0.994812	0.08127	N	0.993747	T	0.46560	0.1399	L	0.29908	0.895	0.47698	D	0.99949	D	0.67145	0.996	D	0.76071	0.987	T	0.41395	-0.9511	10	0.87932	D	0	-7.7535	10.1851	0.42993	0.093:0.0:0.907:0.0	.	773	A7XYQ1	SOBP_HUMAN	D	773;168	ENSP00000318900:E773D	ENSP00000230065:E168D	E	+	3	2	SOBP	108063060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.435000	0.44811	1.836000	0.53414	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	1	0	0	14	329	0	47	0	6.943042e-02	0	10	0	47	2		0	0	0	0	0	2	1	9.997211e-01	14	320	0	47	2								-14.970350	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.480000	0.270000	0.750000	0.470000	0.497679	0.480000	0	3.600000e-01	6.200000e-01
SOBP	55084	broad.mit.edu	37	6	107956512	107956512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956512C>T	ENST00000317357.5	+	6	3123	c.2464C>T	c.(2464-2466)Ccc>Tcc	p.P822S	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)			26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)			GCGGATGCTGCCCAAGACCGG	0.647000																								0							SO:0001583	missense			ENST00000317357.5	1	1	hg19	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395447	0.62066	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.47869	0.83	4.54	4.54	0.55810	.	2.024820	0.03193	U	0.173606	T	0.22085	0.0532	N	0.11560	0.145	0.43787	D	0.996326	P	0.47034	0.889	P	0.47402	0.546	T	0.48364	-0.9042	10	0.02654	T	1	-2.1772	17.2698	0.87098	0.0:1.0:0.0:0.0	.	822	A7XYQ1	SOBP_HUMAN	S	822;217	ENSP00000318900:P822S	ENSP00000230065:P217S	P	+	1	0	SOBP	108063205	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.585000	0.53943	2.052000	0.61016	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	0	0	0	17	704	0	144	0	3.767279e-03	0	4	0	144	2		0	0	0	0	0	2	1	9.999600e-01	16	695	0	144	2								-3.163735	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.270000	0.160000	0.420000	0.270000	0.287307	0.270000	0	2.100000e-01	3.500000e-01
SEC63	11231	broad.mit.edu	37	6	108227665	108227665	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108227665C>T	ENST00000369002.4	-	10	1127	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)			36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)			CTTCAAGGGTCTCAGGAATTT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000369002.4	1	1	hg19	CCDS5061.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	1	0	1	95	477	0	113	1	1	50	207	0	113	2		0	0	0	0	0	2	1	1	95	468	0	112	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR2E1	7101	broad.mit.edu	37	6	108496126	108496126	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108496126C>T	ENST00000368986.4	+	3	966	c.258C>T	c.(256-258)gaC>gaT	p.D86D	NR2E1_ENST00000368983.3_Splice_Site_p.D123D	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1			30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)			TGAACAAAGACGGTAATCAGT	0.458000																								0							SO:0001630	splice_region_variant			ENST00000368986.4	1	0	hg19	CCDS5063.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2	1	0	1	43	210	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	42	209	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NR2E1	7101	broad.mit.edu	37	6	108499328	108499328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108499328G>A	ENST00000368986.4	+	5	1233	c.525G>A	c.(523-525)atG>atA	p.M175I	NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1			30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)			GGACCCCAATGTATCTCTATG	0.498000																								0							SO:0001583	missense			ENST00000368986.4	1	1	hg19	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780984	0.49891	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.90955	-2.75;-2.76	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);	0.222165	0.53938	D	0.000048	T	0.70081	0.3183	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.66705	-0.5856	10	0.21540	T	0.41	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	175	Q9Y466	NR2E1_HUMAN	I	175;212	ENSP00000357982:M175I;ENSP00000357979:M212I	ENSP00000357979:M212I	M	+	3	0	NR2E1	108606021	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.198000	0.72106	2.642000	0.89623	0.650000	0.86243	ATG		TCGA-IB-7651-01A-11D-2154-08	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2	1	0	1	59	299	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	58	293	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX3	8724	broad.mit.edu	37	6	108535813	108535813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108535813G>A	ENST00000230085.8	-	3	610	c.272C>T	c.(271-273)cCg>cTg	p.P91L	SNX3_ENST00000349379.5_Missense_Mutation_p.P69L|SNX3_ENST00000426155.2_Missense_Mutation_p.P59L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3			1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)			CCCAGGGAGCGGGGGAACTAC	0.423000																								0							SO:0001583	missense			ENST00000230085.8	0	1	hg19	CCDS5064.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320049	0.60634	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000349379	T;T;T	0.44083	0.93;0.93;0.93	5.16	5.16	0.70880	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.88450	2.955	0.80722	D	1	B;B	0.25486	0.101;0.127	B;B	0.32090	0.03;0.14	T	0.54846	-0.8232	10	0.87932	D	0	-15.6734	15.3802	0.74648	0.0:0.0:0.8601:0.1399	.	59;91	O60493-2;O60493	.;SNX3_HUMAN	L	91;59;69	ENSP00000230085:P91L;ENSP00000401779:P59L;ENSP00000296991:P69L	ENSP00000230085:P91L	P	-	2	0	SNX3	108642506	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	7.883000	0.87264	2.562000	0.86427	0.462000	0.41574	CCG		TCGA-IB-7651-01A-11D-2154-08	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1	0	0	0	6	182	0	44	1	9.999614e-01	41	817	0	44	2		0	0	0	0	0	2	1	9.639582e-01	6	179	0	43	2								-2.922597	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.390000	0.160000	0.730000	0.360000	0.416253	0.390000	0	2.600000e-01	5.600000e-01
LACE1	246269	broad.mit.edu	37	6	108645053	108645053	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108645053G>T	ENST00000368977.4	+	2	350	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1			15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)			ACATCCGAGAGCATGACCCCA	0.393000																								0							SO:0001583	missense			ENST00000368977.4	1	1	hg19	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024493	0.19433	.	.	ENSG00000135537	ENST00000368977;ENST00000437715	.	.	.	5.44	-2.02	0.07388	.	1.142340	0.06187	N	0.680538	T	0.06508	0.0167	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	9	0.35671	T	0.21	0.0101	2.4287	0.04466	0.4639:0.2219:0.2013:0.1129	.	55	Q8WV93	LACE1_HUMAN	I	55;22	.	ENSP00000357973:S55I	S	+	2	0	LACE1	108751746	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.056000	0.11787	-0.868000	0.04058	-0.275000	0.10095	AGC		TCGA-IB-7651-01A-11D-2154-08	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	0	0	1	79	338	1	131	1	7.723504e-01	5	9	1	131	2		0	0	0	0	0	2	1	1	80	329	1	131	12								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LACE1	246269	broad.mit.edu	37	6	108687502	108687502	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108687502C>T	ENST00000368977.4	+	6	900	c.714C>T	c.(712-714)gtC>gtT	p.V238V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1			15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)			AAAACGGGGTCGTCGTTGTGG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000368977.4	1	1	hg19	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090020	0.20390	0.0	2.33E-4	ENSG00000135537	ENST00000421954	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50931	-0.8769	4	.	.	.	-10.1505	7.6285	0.28226	0.0:0.8056:0.0:0.1944	.	.	.	.	L	106	.	.	S	+	2	0	LACE1	108794195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.874000	0.28065	2.755000	0.94549	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	1	0	1	18	116	0	34	0	4.138486e-01	1	9	0	34	2		0	0	0	0	0	2	1	9.999866e-01	17	115	0	34	2								-3.030711	1	1	121408	2	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.950000	1.000000	1.000000	0.996485	0.990000	1	9.900000e-01	1
GCM2	9247	broad.mit.edu	37	6	10874435	10874435	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874435C>T	ENST00000379491.4	-	5	1461	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)			30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)			GAGAGGCTGCCCTGGTGACTG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000379491.4	1	1	hg19	CCDS4517.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	1	52	191	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	50	185	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCM2	9247	broad.mit.edu	37	6	10874603	10874603	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874603C>A	ENST00000379491.4	-	5	1293	c.1146G>T	c.(1144-1146)gtG>gtT	p.V382V	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)			30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)			TGGTGGTGATCACGGTTTGTA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000379491.4	1	1	hg19	CCDS4517.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	1	128	627	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	125	612	0	151	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCM2	9247	broad.mit.edu	37	6	10877453	10877453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877453G>A	ENST00000379491.4	-	2	410	c.263C>T	c.(262-264)aCa>aTa	p.T88I	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)			30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)			GCAGGCCTGTGTACACACCAC	0.632000																								0							SO:0001583	missense			ENST00000379491.4	1	1	hg19	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362783	0.41902	.	.	ENSG00000124827	ENST00000379491	T	0.74526	-0.85	5.69	3.91	0.45181	.	0.421727	0.30732	N	0.009000	T	0.40272	0.1110	N	0.19112	0.55	0.46678	D	0.999157	B	0.18013	0.025	B	0.18871	0.023	T	0.41161	-0.9524	10	0.59425	D	0.04	-0.6723	6.5058	0.22194	0.0688:0.1309:0.6643:0.136	.	88	O75603	GCM2_HUMAN	I	88	ENSP00000368805:T88I	ENSP00000368805:T88I	T	-	2	0	GCM2	10985439	0.714000	0.27936	0.033000	0.17914	0.873000	0.50193	4.669000	0.61575	0.754000	0.32968	0.650000	0.86243	ACA		TCGA-IB-7651-01A-11D-2154-08	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	1	83	348	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	79	340	0	70	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCM2	9247	broad.mit.edu	37	6	10877516	10877516	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877516C>T	ENST00000379491.4	-	2	347	c.200G>A	c.(199-201)cGc>cAc	p.R67H	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	p.R67H(1)		30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)			GTTGGTGTTGCGCATGGCCCA	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000379491.4	1	1	hg19	CCDS4517.1	18	0.008241758241758242	4	0.008130081300813009	1	0.0027624309392265192	6	0.01048951048951049	7	0.009234828496042216	C	35	5.586507	0.96578	.	.	ENSG00000124827	ENST00000379491	T	0.80824	-1.42	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91018	0.4855	10	0.87932	D	0	-20.4115	19.8215	0.96599	0.0:1.0:0.0:0.0	.	67	O75603	GCM2_HUMAN	H	67	ENSP00000368805:R67H	ENSP00000368805:R67H	R	-	2	0	GCM2	10985502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.679000	0.91253	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	1	52	306	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	52	305	0	60	2								-19.999940	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
LACE1	246269	broad.mit.edu	37	6	108840900	108840900	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108840900G>A	ENST00000368977.4	+	12	1390	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1			15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)			TCTATTTCAGGTGCGTATAAT	0.348000																								0							SO:0001630	splice_region_variant			ENST00000368977.4	1	0	hg19	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605248	0.66445	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91638	0.5324	8	.	.	.	-14.8229	19.6956	0.96023	0.0:0.0:1.0:0.0	.	402	Q8WV93	LACE1_HUMAN	M	402	.	.	V	+	1	0	LACE1	108947593	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	6.440000	0.73435	2.757000	0.94681	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	1	0	1	58	303	0	72	0	4.987365e-01	0	10	0	72	2		0	0	0	0	0	2	1	1	58	296	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXO3	2309	broad.mit.edu	37	6	108984662	108984662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984662C>T	ENST00000343882.6	+	3	930	c.626C>T	c.(625-627)tCc>tTc	p.S209F	FOXO3_ENST00000406360.1_Missense_Mutation_p.S209F|FOXO3_ENST00000540898.1_5'UTR	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3			26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)			CTGCAGAACTCCATCCGGCAC	0.468000																								0							SO:0001583	missense			ENST00000343882.6	1	1	hg19	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615266	0.66672	.	.	ENSG00000118689	ENST00000343882;ENST00000406360	D;D	0.97665	-4.48;-4.48	5.83	5.83	0.93111	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99126	1.0851	10	0.87932	D	0	-14.0329	20.1236	0.97970	0.0:1.0:0.0:0.0	.	209	O43524	FOXO3_HUMAN	F	209	ENSP00000339527:S209F;ENSP00000385824:S209F	ENSP00000339527:S209F	S	+	2	0	FOXO3	109091355	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	7.487000	0.81328	2.765000	0.95021	0.555000	0.69702	TCC		TCGA-IB-7651-01A-11D-2154-08	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	1	0	1	64	317	0	81	1	9.999966e-01	11	82	0	81	2		0	0	0	0	0	2	1	1	63	306	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXO3	2309	broad.mit.edu	37	6	108984928	108984928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984928C>T	ENST00000343882.6	+	3	1196	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	FOXO3_ENST00000406360.1_Missense_Mutation_p.R298C|FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3			26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)			CCCCACGTCACGCAGCAGTGA	0.632000																								0							SO:0001583	missense			ENST00000343882.6	1	1	hg19	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584054	0.46110	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91295	-2.82;-2.82	5.84	5.84	0.93424	.	0.045497	0.85682	D	0.000000	D	0.94384	0.8194	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	D	0.93633	0.6958	10	0.54805	T	0.06	-15.3772	20.1432	0.98067	0.0:1.0:0.0:0.0	.	298	O43524	FOXO3_HUMAN	C	298;298;78;78	ENSP00000339527:R298C;ENSP00000385824:R298C	ENSP00000339527:R298C	R	+	1	0	FOXO3	109091621	1.000000	0.71417	0.967000	0.41034	0.036000	0.12997	7.487000	0.81328	2.769000	0.95229	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	1	0	1	28	122	0	26	1	9.999992e-01	18	88	0	26	2		0	0	0	0	0	2	1	1	25	114	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
FOXO3	2309	broad.mit.edu	37	6	108985303	108985303	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108985303C>A	ENST00000343882.6	+	3	1571	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	FOXO3_ENST00000406360.1_Missense_Mutation_p.L423M|FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3			26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)			GGGCTCGGGCCTGGGCTCCCC	0.602000																								0							SO:0001583	missense			ENST00000343882.6	1	1	hg19	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068588	0.20067	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.96967	-4.19;-4.19;-4.19	5.81	3.11	0.35812	.	0.613858	0.16574	N	0.208517	D	0.88665	0.6498	L	0.53249	1.67	0.43394	D	0.995517	P	0.45283	0.855	B	0.35859	0.212	D	0.84560	0.0649	10	0.45353	T	0.12	-2.6743	6.1388	0.20249	0.1303:0.6724:0.0:0.1973	.	423	O43524	FOXO3_HUMAN	M	423;423;203;203	ENSP00000339527:L423M;ENSP00000385824:L423M;ENSP00000446316:L203M	ENSP00000339527:L423M	L	+	1	2	FOXO3	109091996	1.000000	0.71417	0.839000	0.33178	0.823000	0.46562	3.218000	0.51192	0.388000	0.25054	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2	1	0	1	85	478	0	144	1	1	44	168	0	144	2		0	0	0	0	0	2	1	1	81	470	0	140	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMC2	84071	broad.mit.edu	37	6	109220981	109220981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109220981G>A	ENST00000392644.4	+	7	1001	c.833G>A	c.(832-834)cGt>cAt	p.R278H	ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2			24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)			CCGATTTTGCGTGAATTAGAA	0.353000																								0							SO:0001583	missense			ENST00000392644.4	1	1	hg19	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710046	0.00712	0.0	2.33E-4	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.39406	1.08;1.08	5.65	-2.41	0.06562	Armadillo-like helical (1);	0.500152	0.23742	N	0.045015	T	0.02571	0.0078	N	0.00483	-1.445	0.21933	N	0.999467	B	0.02656	0.0	B	0.01281	0.0	T	0.43507	-0.9387	10	0.02654	T	1	.	12.4735	0.55799	0.5786:0.0:0.4214:0.0	.	278	Q8NEN0	ARMC2_HUMAN	H	113;278	ENSP00000357968:R113H;ENSP00000376417:R278H	ENSP00000357968:R113H	R	+	2	0	ARMC2	109327674	0.354000	0.24912	0.893000	0.35052	0.026000	0.11368	0.082000	0.14847	-0.289000	0.09038	-0.897000	0.02905	CGT		TCGA-IB-7651-01A-11D-2154-08	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	1	0	1	21	100	0	30	0	2.937844e-01	1	5	0	30	2		0	0	0	0	0	2	1	9.999985e-01	19	100	0	30	2								-3.245082	1	1	121406	15	41	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999802	0.990000	1	9.900000e-01	1
ARMC2	84071	broad.mit.edu	37	6	109225603	109225603	+	Missense_Mutation	SNP	C	C	A	rs145604834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109225603C>A	ENST00000392644.4	+	8	1186	c.1018C>A	c.(1018-1020)Cta>Ata	p.L340I	ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2			24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)			AAAAATAATTCTAGCAGTAAG	0.313000																								0							SO:0001583	missense			ENST00000392644.4	1	1	hg19	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691509	0.88735	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.59224	0.28;0.32	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.83012	2.62	0.54753	D	0.999985	D	0.76494	0.999	D	0.80764	0.994	T	0.78224	-0.2287	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	340	Q8NEN0	ARMC2_HUMAN	I	175;340	ENSP00000357968:L175I;ENSP00000376417:L340I	ENSP00000357968:L175I	L	+	1	2	ARMC2	109332296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.014000	0.57145	2.798000	0.96311	0.655000	0.94253	CTA		TCGA-IB-7651-01A-11D-2154-08	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	1	0	0	26	260	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	9.999999e-01	26	257	0	67	2								-3.017764	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.710000	1.000000	1.000000	0.953787	0.990000	1	8.700000e-01	1
ARMC2	84071	broad.mit.edu	37	6	109274296	109274296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109274296C>T	ENST00000392644.4	+	13	1825	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2			24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)			TAACCAGGCTCGTGAACAATT	0.463000																								0							SO:0001583	missense			ENST00000392644.4	1	1	hg19	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801871	0.70682	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.50813	0.73;0.73	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.67933	-0.5542	10	0.72032	D	0.01	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	553	Q8NEN0	ARMC2_HUMAN	C	388;553	ENSP00000357968:R388C;ENSP00000376417:R553C	ENSP00000357968:R388C	R	+	1	0	ARMC2	109380989	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	5.047000	0.64232	2.756000	0.94617	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	1	0	1	25	106	0	24	0	1.762059e-01	0	4	0	24	2		0	0	0	0	0	2	1	9.999999e-01	25	103	0	24	2								-16.700040	1	1	121404	1	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
SYCP2L	221711	broad.mit.edu	37	6	10927525	10927525	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10927525C>T	ENST00000283141.6	+	17	1661	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like			36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)		CTGAAGATGACCGCTGCCTAA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000283141.6	1	1	hg19	CCDS43423.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	1	0	0	16	327	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	9.999302e-01	15	323	0	64	2								-4.564546	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.540000	0.320000	0.820000	0.530000	0.561795	0.540000	0	4.200000e-01	6.900000e-01
ARMC2	84071	broad.mit.edu	37	6	109283323	109283323	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109283323G>A	ENST00000392644.4	+	15	2313	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	ARMC2_ENST00000368972.3_Silent_p.Q550Q|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2			24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)			TCATTGTGCAGAACAATGGTG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000392644.4	1	1	hg19	CCDS5069.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	1	0	1	16	65	0	18	1	4.388985e-02	2	0	0	18	2		0	0	0	0	0	2	1	9.999648e-01	16	65	0	18	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999663	0.990000	1	9.900000e-01	1
MICAL1	64780	broad.mit.edu	37	6	109765460	109765460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109765460G>A	ENST00000358807.3	-	25	3449	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A	MICAL1_ENST00000368952.4_Silent_p.A1065A|MICAL1_ENST00000358577.3_Silent_p.A960A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1			40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)			AGCGGATGAGGGCATCTCTCT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000358807.3	1	1	hg19	CCDS5076.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	1	41	224	0	42	1	9.999996e-01	30	97	0	42	2		0	0	0	0	0	2	1	1	40	219	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
MICAL1	64780	broad.mit.edu	37	6	109768325	109768325	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768325G>T	ENST00000358807.3	-	17	2489	c.2178C>A	c.(2176-2178)acC>acA	p.T726T	MICAL1_ENST00000368952.4_Silent_p.T745T|MICAL1_ENST00000358577.3_Silent_p.T640T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1			40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)			TGGCCTCACAGGTATGGCAGC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000358807.3	1	1	hg19	CCDS5076.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	1	52	369	0	91	1	9.993353e-01	17	62	0	91	2		0	0	0	0	0	2	1	1	52	362	0	89	2								-2.966620	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999782	0.990000	1	9.900000e-01	1
MICAL1	64780	broad.mit.edu	37	6	109768373	109768373	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768373G>T	ENST00000358807.3	-	17	2441	c.2130C>A	c.(2128-2130)ctC>ctA	p.L710L	MICAL1_ENST00000368952.4_Silent_p.L729L|MICAL1_ENST00000358577.3_Silent_p.L624L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1			40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)			CGTTGACACAGAGGCGTTCCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000358807.3	1	1	hg19	CCDS5076.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	1	81	502	0	138	1	9.999999e-01	36	111	0	138	2		0	0	0	0	0	2	1	1	81	496	0	136	2								-2.879492	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MICAL1	64780	broad.mit.edu	37	6	109768629	109768629	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768629G>A	ENST00000358807.3	-	16	2312	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	MICAL1_ENST00000368952.4_Silent_p.T686T|MICAL1_ENST00000358577.3_Silent_p.T581T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1			40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)			CAGTACTTGGGGTCTCGGCCT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000358807.3	1	1	hg19	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	3.365	-0.129682	0.06753	.	.	ENSG00000135596	ENST00000433205	.	.	.	5.59	-2.28	0.06826	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.36456	-0.9747	4	.	.	.	.	5.426	0.16425	0.5946:0.0:0.2594:0.1461	.	.	.	.	S	229	.	.	P	-	1	0	MICAL1	109875322	0.001000	0.12720	0.004000	0.12327	0.604000	0.37047	-0.429000	0.06982	-0.253000	0.09514	-0.169000	0.13324	CCC		TCGA-IB-7651-01A-11D-2154-08	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	1	17	232	0	37	1	9.934356e-01	19	94	0	37	2		0	0	0	0	0	2	1	9.999633e-01	16	227	0	37	2								-19.952040	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.790000	0.480000	1.000000	1.000000	0.797889	0.790000	0	6.200000e-01	9.900000e-01
MICAL1	64780	broad.mit.edu	37	6	109775336	109775336	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109775336G>T	ENST00000358807.3	-	2	375	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	MICAL1_ENST00000368952.4_Missense_Mutation_p.L41M|MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1			40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)			TCCTGGCACAGCTGGGCCTGC	0.652000																								0							SO:0001583	missense			ENST00000358807.3	1	1	hg19	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648733	0.67358	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.22336	1.96;3.28;1.96;1.96	5.17	3.38	0.38709	.	1.141450	0.06566	N	0.747538	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	0.999998	D;P;P	0.53619	0.961;0.672;0.543	P;B;B	0.46110	0.504;0.408;0.231	T	0.27606	-1.0069	10	0.72032	D	0.01	.	6.0299	0.19675	0.0871:0.0:0.5772:0.3358	.	41;22;22	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	22;41;22;22	ENSP00000351664:L22M;ENSP00000357948:L41M;ENSP00000351385:L22M;ENSP00000407075:L22M	ENSP00000351385:L22M	L	-	1	2	MICAL1	109882029	0.822000	0.29219	0.996000	0.52242	0.996000	0.88848	1.562000	0.36353	0.741000	0.32674	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	1	0	1	36	126	0	31	1	9.999798e-01	20	43	0	31	2		0	0	0	0	0	2	1	1	35	126	0	30	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FIG4	9896	broad.mit.edu	37	6	110107619	110107619	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110107619A>C	ENST00000230124.3	+	18	2187	c.2063A>C	c.(2062-2064)gAt>gCt	p.D688A	FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase			32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)			AGCTTTGATGATACCTTTTGC	0.348000																								0							SO:0001583	missense			ENST00000230124.3	1	1	hg19	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033096	0.54896	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.52295	1.92;0.67	5.5	4.35	0.52113	.	0.271299	0.40640	N	0.001053	T	0.22322	0.0538	L	0.34521	1.04	0.53005	D	0.999962	B;B	0.33103	0.137;0.397	B;B	0.32465	0.092;0.146	T	0.11767	-1.0574	10	0.72032	D	0.01	-27.3375	11.3806	0.49754	0.9291:0.0:0.0709:0.0	.	411;688	F5H8L9;Q92562	.;FIG4_HUMAN	A	411;688	ENSP00000399443:D411A;ENSP00000230124:D688A	ENSP00000230124:D688A	D	+	2	0	FIG4	110214312	1.000000	0.71417	0.885000	0.34714	0.938000	0.57974	6.801000	0.75170	1.040000	0.40099	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	1	0	1	90	477	0	130	1	9.991444e-01	16	41	0	130	2		0	0	0	0	0	2	1	1	87	472	0	130	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR6	2830	broad.mit.edu	37	6	110300884	110300884	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110300884C>A	ENST00000275169.3	+	1	587	c.569C>A	c.(568-570)gCc>gAc	p.A190D	GPR6_ENST00000414000.2_Missense_Mutation_p.A205D	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6			18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)			CTCCTGCTTGCCGCCACTTGG	0.687000																								0							SO:0001583	missense			ENST00000275169.3	1	1	hg19	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964004	0.53507	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.42513	0.97;0.97	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.273274	0.31772	N	0.007085	T	0.51449	0.1675	M	0.85462	2.755	0.09310	N	0.999994	D;D	0.64830	0.993;0.994	P;D	0.63597	0.889;0.916	T	0.51568	-0.8689	10	0.72032	D	0.01	.	8.2855	0.31926	0.0:0.7829:0.0:0.2171	.	205;190	B4DHS9;P46095	.;GPR6_HUMAN	D	190;205;190	ENSP00000406986:A205D;ENSP00000275169:A190D	ENSP00000275169:A190D	A	+	2	0	GPR6	110407577	0.965000	0.33210	0.411000	0.26484	0.955000	0.61496	3.201000	0.51059	2.504000	0.84457	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1	1	0	0	47	207	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	46	204	0	35	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WASF1	8936	broad.mit.edu	37	6	110423106	110423106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110423106C>T	ENST00000392589.1	-	10	2043	c.1207G>A	c.(1207-1209)Gct>Act	p.A403T	WASF1_ENST00000392586.1_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T|WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1			16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)			ACTGGGGCAGCTCTAGCTACT	0.592000																								0							SO:0001583	missense			ENST00000392589.1	1	1	hg19	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830312	0.50845	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.56	5.56	0.83823	.	0.643630	0.16262	N	0.222188	T	0.15869	0.0382	N	0.08118	0	0.41624	D	0.988985	B	0.06786	0.001	B	0.06405	0.002	T	0.13176	-1.0519	10	0.11485	T	0.65	.	19.5397	0.95270	0.0:1.0:0.0:0.0	.	403	Q92558	WASF1_HUMAN	T	403	ENSP00000376365:A403T;ENSP00000376366:A403T;ENSP00000376368:A403T;ENSP00000376367:A403T;ENSP00000352425:A403T	ENSP00000352425:A403T	A	-	1	0	WASF1	110529799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.282000	0.51693	2.623000	0.88846	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	1	0	1	58	240	0	52	1	9.895373e-01	2	30	0	52	2		0	0	0	0	0	2	1	1	58	229	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDO	8528	broad.mit.edu	37	6	110729641	110729641	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110729641T>C	ENST00000368924.3	-	3	276	c.261A>G	c.(259-261)acA>acG	p.T87T	DDO_ENST00000368923.3_Silent_p.T87T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase			24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)			TGTGAATGGGTGTATCTGTAA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000368924.3	1	1	hg19	CCDS5082.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1	1	0	1	45	183	0	58	0	7.935832e-01	1	13	0	58	2		0	0	0	0	0	2	1	1	45	179	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDO	8528	broad.mit.edu	37	6	110734632	110734632	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110734632C>A	ENST00000368924.3	-	2	133	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	DDO_ENST00000368923.3_Missense_Mutation_p.G40C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase			24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)			CCCACCACACCTGCCCCGACA	0.522000																								0							SO:0001583	missense			ENST00000368924.3	1	1	hg19	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471670	0.84533	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.99860	-7.25;-7.25;-7.25	5.32	5.32	0.75619	.	0.110120	0.64402	D	0.000009	D	0.99926	0.9966	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96008	0.8999	10	0.87932	D	0	-18.4927	18.6022	0.91253	0.0:1.0:0.0:0.0	.	40;40	Q99489-4;Q99489-3	.;.	C	40;40;12	ENSP00000357920:G40C;ENSP00000357919:G40C;ENSP00000357921:G12C	ENSP00000357919:G40C	G	-	1	0	DDO	110841325	1.000000	0.71417	0.197000	0.23402	0.045000	0.14185	7.065000	0.76727	2.475000	0.83589	0.462000	0.41574	GGT		TCGA-IB-7651-01A-11D-2154-08	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1	0	0	1	140	769	1	184	0	5.734692e-01	1	11	1	184	2		0	0	0	0	0	2	1	1	137	755	1	182	17								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMD1	262	broad.mit.edu	37	6	111213405	111213405	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111213405T>C	ENST00000368885.3	+	5	805	c.469T>C	c.(469-471)Tgg>Cgg	p.W157R	AMD1_ENST00000368882.3_Splice_Site_p.W9R|AMD1_ENST00000368876.1_Splice_Site_p.W88R|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Splice_Site_p.W128R	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1			8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		S-Adenosylmethionine(DB00118)	TTCTGACTGTTGGTATGTTTA	0.313000																								0							SO:0001630	splice_region_variant			ENST00000368885.3	1	0	hg19	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248273	0.80024	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000368877;ENST00000368876	.	.	.	5.3	5.3	0.74995	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.953	D	0.86902	0.2055	9	0.66056	D	0.02	.	13.8004	0.63196	0.0:0.0:0.0:1.0	.	128;157	A6NNH3;P17707	.;DCAM_HUMAN	R	157;9;128;88	.	ENSP00000357870:W88R	W	+	1	0	AMD1	111320098	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.652000	0.83633	2.003000	0.58678	0.402000	0.26972	TGG		TCGA-IB-7651-01A-11D-2154-08	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1	1	0	1	187	755	0	189	1	1	62	137	0	189	2		0	0	0	0	0	2	1	1	182	742	0	188	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPF2	84154	broad.mit.edu	37	6	111310254	111310254	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111310254T>C	ENST00000441448.2	+	3	272	c.180T>C	c.(178-180)ggT>ggC	p.G60G		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)			7					AACCATACGGTGTACTATATA	0.249000																								0							SO:0001819	synonymous_variant			ENST00000441448.2	1	1	hg19	CCDS5088.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	1	0	1	12	62	0	16	1	9.999983e-01	49	111	0	16	2		0	0	0	0	0	2	1	9.993338e-01	12	61	0	15	2								-9.594725	1	1	121310	1	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.960000	1.000000	1.000000	0.996409	0.990000	1	9.900000e-01	1
SLC16A10	117247	broad.mit.edu	37	6	111493992	111493992	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111493992C>A	ENST00000368851.5	+	2	613	c.438C>A	c.(436-438)gtC>gtA	p.V146V	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10			12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	AAACAGCTGTCGTGGGTGCTG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000368851.5	1	1	hg19	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	C	8.461	0.855211	0.17106	.	.	ENSG00000112394	ENST00000419619;ENST00000439288	.	.	.	5.65	-6.94	0.01633	.	.	.	.	.	.	.	.	.	.	.	0.41365	D	0.987454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3115	0.49366	0.0:0.1161:0.1904:0.6935	.	.	.	.	X	32	.	.	S	+	2	0	SLC16A10	111600685	0.622000	0.27085	0.022000	0.16811	0.974000	0.67602	-0.354000	0.07681	-1.353000	0.02191	0.491000	0.48974	TCG		TCGA-IB-7651-01A-11D-2154-08	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2	1	0	1	144	619	0	115	1	9.618730e-01	2	23	0	115	2		0	0	0	0	0	2	1	1	140	608	0	113	2								-3.334047	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1919	91749	broad.mit.edu	37	6	111583508	111583508	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111583508A>C	ENST00000368847.4	+	2	429	c.76A>C	c.(76-78)Aac>Cac	p.N26H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919			12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)			TTTGGCAACAAACGTGAACCG	0.363000																								0							SO:0001583	missense			ENST00000368847.4	1	1	hg19	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728643	0.89390	.	.	ENSG00000173214	ENST00000368847	T	0.57907	0.37	5.84	5.84	0.93424	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.68952	2.095	0.53005	D	0.999962	P	0.46784	0.884	P	0.59424	0.857	T	0.62096	-0.6926	10	0.46703	T	0.11	-24.5747	15.8764	0.79166	1.0:0.0:0.0:0.0	.	26	Q5TF39	NAGT1_HUMAN	H	26	ENSP00000357840:N26H	ENSP00000357840:N26H	N	+	1	0	KIAA1919	111690201	1.000000	0.71417	0.800000	0.32199	0.934000	0.57294	8.088000	0.89523	2.234000	0.73211	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	1	0	1	165	700	0	120	1	5.366620e-01	3	6	0	120	2		0	0	0	0	0	2	1	1	164	685	0	120	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REV3L	5980	broad.mit.edu	37	6	111621261	111621261	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111621261C>T	ENST00000358835.3	-	33	9805	c.9351G>A	c.(9349-9351)ttG>ttA	p.L3117L	REV3L_ENST00000435970.1_Silent_p.L3039L|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Silent_p.L3117L|REV3L_ENST00000368805.1_Silent_p.L3117L|RP5-1112D6.7_ENST00000607386.1_lincRNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit			88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)			GTGCCTTGGACAATTCTCTAT	0.393000								DNA polymerases (catalytic subunits)																0							SO:0001819	synonymous_variant			ENST00000358835.3	1	1	hg19	CCDS5091.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	0	0	1	99	442	1	114	1	9.991379e-01	17	53	1	114	4		0	0	0	0	0	2	1	1	96	432	1	114	16								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REV3L	5980	broad.mit.edu	37	6	111678315	111678315	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111678315C>T	ENST00000358835.3	-	19	7540	c.7086G>A	c.(7084-7086)caG>caA	p.Q2362Q	REV3L_ENST00000435970.1_Silent_p.Q2284Q|REV3L_ENST00000368802.3_Silent_p.Q2362Q|REV3L_ENST00000368805.1_Silent_p.Q2362Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit			88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)			GTAATGGAGTCTGATATCTGA	0.269000								DNA polymerases (catalytic subunits)																0							SO:0001819	synonymous_variant			ENST00000358835.3	1	1	hg19	CCDS5091.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	0	63	308	0	60	1	9.968178e-01	10	35	0	60	2		0	0	0	0	0	2	1	1	62	306	0	59	2								-3.001303	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REV3L	5980	broad.mit.edu	37	6	111693934	111693934	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111693934G>T	ENST00000358835.3	-	14	6078	c.5624C>A	c.(5623-5625)gCt>gAt	p.A1875D	REV3L_ENST00000435970.1_Missense_Mutation_p.A1797D|REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D|REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit			88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)			CAGAATGTTAGCAGTTCGAGG	0.418000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000358835.3	1	1	hg19	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498395	0.64298	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01613	4.82;4.82;4.82;4.73	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.125034	0.56097	D	0.000040	T	0.02012	0.0063	L	0.44542	1.39	0.42120	D	0.991422	D	0.63880	0.993	P	0.56343	0.796	T	0.70292	-0.4912	10	0.15499	T	0.54	-5.523	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	1875	O60673	DPOLZ_HUMAN	D	1875;1875;1875;1797	ENSP00000357792:A1875D;ENSP00000357795:A1875D;ENSP00000351697:A1875D;ENSP00000402003:A1797D	ENSP00000351697:A1875D	A	-	2	0	REV3L	111800627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.631000	0.83237	2.805000	0.96524	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	1	157	713	0	189	1	9.967379e-01	9	32	0	189	2		0	0	0	0	0	2	1	1	157	696	0	185	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REV3L	5980	broad.mit.edu	37	6	111695078	111695078	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111695078T>A	ENST00000358835.3	-	14	4934	c.4480A>T	c.(4480-4482)Agg>Tgg	p.R1494W	REV3L_ENST00000435970.1_Missense_Mutation_p.R1416W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W|REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit			88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)			GATAACGACCTCGGTTTTACT	0.378000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000358835.3	1	1	hg19	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096552	0.36952	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01887	4.67;4.67;4.67;4.58	6.04	3.7	0.42460	Ribonuclease H-like (1);	0.279477	0.30201	N	0.010167	T	0.01523	0.0049	L	0.40543	1.245	0.09310	N	1	P	0.51791	0.948	P	0.46362	0.514	T	0.41324	-0.9515	10	0.87932	D	0	-5.225	14.0764	0.64893	0.0:0.0:0.2772:0.7228	.	1494	O60673	DPOLZ_HUMAN	W	1494;1494;1494;1416	ENSP00000357792:R1494W;ENSP00000357795:R1494W;ENSP00000351697:R1494W;ENSP00000402003:R1416W	ENSP00000351697:R1494W	R	-	1	2	REV3L	111801771	0.014000	0.17966	0.730000	0.30809	0.690000	0.40134	1.863000	0.39459	1.065000	0.40693	0.460000	0.39030	AGG		TCGA-IB-7651-01A-11D-2154-08	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	1	132	600	0	130	1	9.908594e-01	2	33	0	130	2		0	0	0	0	0	2	1	1	131	583	0	130	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REV3L	5980	broad.mit.edu	37	6	111709256	111709256	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111709256T>G	ENST00000358835.3	-	9	1349	c.895A>C	c.(895-897)Aaa>Caa	p.K299Q	REV3L_ENST00000435970.1_Missense_Mutation_p.K221Q|REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q|REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit			88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)			TGAAATTTTTTTTCACTTTCT	0.289000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000358835.3	1	1	hg19	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660422	0.67586	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.35	5.35	0.76521	Ribonuclease H-like (1);	0.156429	0.45867	D	0.000334	T	0.15955	0.0384	L	0.45581	1.43	0.35880	D	0.828879	P	0.47409	0.895	B	0.39706	0.307	T	0.04041	-1.0982	10	0.29301	T	0.29	.	15.3194	0.74109	0.0:0.0:0.0:1.0	.	299	O60673	DPOLZ_HUMAN	Q	299;299;299;221	ENSP00000357792:K299Q;ENSP00000357795:K299Q;ENSP00000351697:K299Q;ENSP00000402003:K221Q	ENSP00000351697:K299Q	K	-	1	0	REV3L	111815949	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	6.903000	0.75703	2.017000	0.59298	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	1	46	198	0	47	1	8.547128e-01	6	11	0	47	2		0	0	0	0	0	2	1	1	45	195	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WISP3	8838	broad.mit.edu	37	6	112382319	112382319	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112382319G>T	ENST00000368666.2	+	2	460	c.174G>T	c.(172-174)aaG>aaT	p.K58N	WISP3_ENST00000361714.1_Missense_Mutation_p.K76N|WISP3_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N|WISP3_ENST00000604763.1_Missense_Mutation_p.K58N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3			13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			CTCAGCAGAAGCCCCGTTGCC	0.527000																								0							SO:0001583	missense			ENST00000368666.2	1	1	hg19	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141233	0.09083	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.58	3.71	0.42584	Insulin-like growth factor-binding protein, IGFBP (3);	0.860116	0.09750	N	0.760779	T	0.30293	0.0760	L	0.44542	1.39	0.18873	N	0.999986	P;B	0.37276	0.589;0.351	B;B	0.30943	0.117;0.122	T	0.24977	-1.0145	10	0.62326	D	0.03	.	5.8736	0.18816	0.2242:0.148:0.6278:0.0	.	76;58	O95389-2;O95389	.;WISP3_HUMAN	N	58;58;76;58;36	ENSP00000357655:K58N;ENSP00000230529:K58N;ENSP00000354734:K76N;ENSP00000357652:K36N	ENSP00000230529:K58N	K	+	3	2	WISP3	112489012	0.989000	0.36119	0.690000	0.30148	0.032000	0.12392	1.954000	0.40362	1.046000	0.40249	-0.253000	0.11424	AAG		TCGA-IB-7651-01A-11D-2154-08	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	1	0	1	77	342	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	76	338	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBE1	51175	broad.mit.edu	37	6	112397143	112397143	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112397143G>A	ENST00000368662.5	-	8	887	c.809C>T	c.(808-810)aCg>aTg	p.T270M	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1			12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		Vinblastine(DB00570)	GAATTACCTCGTTAGGTTGAG	0.333000																								0							SO:0001583	missense			ENST00000368662.5	1	1	hg19	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733802	0.89482	2.27E-4	1.16E-4	ENSG00000074935	ENST00000368662	T	0.73047	-0.71	5.7	5.7	0.88788	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90182	0.4243	10	0.87932	D	0	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	270	Q9UJT0	TBE_HUMAN	M	270	ENSP00000357651:T270M	ENSP00000357651:T270M	T	-	2	0	TUBE1	112503836	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.328000	0.96403	2.677000	0.91161	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	1	0	1	85	349	0	83	1	9.864694e-01	2	28	0	83	2		0	0	0	0	0	2	1	1	83	342	0	82	2								-20.000000	1	1	121408	6	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA4	3910	broad.mit.edu	37	6	112440429	112440429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112440429G>A	ENST00000230538.7	-	34	5148	c.4751C>T	c.(4750-4752)gCt>gTt	p.A1584V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4			100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			TTTCCAGGTAGCTTCAGTAGG	0.473000																								0							SO:0001583	missense			ENST00000230538.7	1	1	hg19	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992833	0.18966	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.69	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.564410	0.19944	N	0.102587	T	0.29093	0.0723	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.004	T	0.18999	-1.0319	10	0.26408	T	0.33	.	4.9725	0.14123	0.2293:0.0:0.5884:0.1824	.	1584;1577	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1584;1577;1577;1577	ENSP00000230538:A1584V;ENSP00000429488:A1577V;ENSP00000374114:A1577V;ENSP00000416470:A1577V	ENSP00000230538:A1584V	A	-	2	0	LAMA4	112547122	0.023000	0.18921	0.278000	0.24718	0.904000	0.53231	1.616000	0.36933	0.775000	0.33450	-0.263000	0.10527	GCT		TCGA-IB-7651-01A-11D-2154-08	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	1	99	412	0	116	1	1	2	164	0	116	2		0	0	0	0	0	2	1	1	97	401	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA4	3910	broad.mit.edu	37	6	112454579	112454579	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112454579A>G	ENST00000230538.7	-	27	4065	c.3668T>C	c.(3667-3669)gTt>gCt	p.V1223A	LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A|LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A|LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4			100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			TCCATAACCAACTCCCAGGGT	0.423000																								0							SO:0001583	missense			ENST00000230538.7	1	1	hg19	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796977	0.70567	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.89	5.89	0.94794	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.156231	0.56097	D	0.000034	T	0.74268	0.3694	L	0.38175	1.15	0.80722	D	1	P;P	0.41131	0.622;0.739	B;B	0.43251	0.235;0.413	T	0.80082	-0.1531	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1223;1216	Q16363;Q16363-2	LAMA4_HUMAN;.	A	1223;1216;1216;1216	ENSP00000230538:V1223A;ENSP00000429488:V1216A;ENSP00000374114:V1216A;ENSP00000416470:V1216A	ENSP00000230538:V1223A	V	-	2	0	LAMA4	112561272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.246000	0.74042	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	1	93	554	0	106	1	9.999999e-01	2	133	0	106	2		0	0	0	0	0	2	1	1	93	546	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA4	3910	broad.mit.edu	37	6	112476778	112476778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112476778G>A	ENST00000230538.7	-	15	2345	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000425503.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4			100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			TCATAAATTCGGTCAGTGGTG	0.373000																								0							SO:0001587	stop_gained			ENST00000230538.7	0	1	hg19	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	42	9.576240	0.99210	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.42	2.35	0.29111	.	0.213448	0.44902	D	0.000405	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6393	0.56700	0.0:0.0:0.5638:0.4362	.	.	.	.	X	650;643;643;643	.	ENSP00000230538:R650X	R	-	1	2	LAMA4	112583471	1.000000	0.71417	0.949000	0.38748	0.858000	0.48976	1.637000	0.37155	0.799000	0.34018	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	1	93	379	0	96	0	9.999973e-01	0	77	0	96	2		0	0	0	0	0	2	1	1	89	374	0	96	2								-2.736655	1	1	121412	1	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA4	3910	broad.mit.edu	37	6	112479990	112479990	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112479990G>A	ENST00000230538.7	-	14	2158	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.V580V|LAMA4_ENST00000424408.2_Silent_p.V580V|LAMA4_ENST00000389463.4_Silent_p.V580V|RP1-142L7.5_ENST00000425503.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4			100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			TAGCTTCTTGGACTAAATCAT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000230538.7	1	1	hg19	CCDS43491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	0	18	354	0	52	0	9.839036e-01	0	134	0	52	2		0	0	0	0	0	2	1	9.999803e-01	18	347	0	51	2								-4.864952	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.560000	0.340000	0.840000	0.560000	0.582089	0.560000	0	4.400000e-01	7.100000e-01
LAMA4	3910	broad.mit.edu	37	6	112480017	112480017	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112480017G>A	ENST00000230538.7	-	14	2131	c.1734C>T	c.(1732-1734)aaC>aaT	p.N578N	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.N571N|LAMA4_ENST00000424408.2_Silent_p.N571N|LAMA4_ENST00000389463.4_Silent_p.N571N|RP1-142L7.5_ENST00000425503.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4			100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			GGTTACTTAGGTTAGATAGTT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000230538.7	1	1	hg19	CCDS43491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	1	0	1	75	271	0	50	0	1	1	139	0	50	2		0	0	0	0	0	2	1	1	74	266	0	50	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA4	3910	broad.mit.edu	37	6	112508730	112508730	+	Silent	SNP	G	G	A	rs17073495	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112508730G>A	ENST00000230538.7	-	8	1285	c.888C>T	c.(886-888)tcC>tcT	p.S296S	LAMA4_ENST00000522006.1_Silent_p.S289S|LAMA4_ENST00000424408.2_Silent_p.S289S|LAMA4_ENST00000389463.4_Silent_p.S289S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4			100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			TCAGCACCCCGGATTTGCCTT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000230538.7	1	0	hg19	CCDS43491.1	8|8	0.003663003663003663|0.003663003663003663	8|8	0.016260162601626018|0.016260162601626018	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	8.223|8.223	0.803008|0.803008	0.16397|0.16397	0.011348|0.011348	0.0|0.0	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000521732	.|.	.|.	.|.	5.9|5.9	-11.0|-11.0	0.00169|0.00169	.|.	.|.	.|.	.|.	.|.	T|T	0.15089|0.15089	0.0364|0.0364	.|.	.|.	.|.	0.45161|0.45161	D|D	0.998171|0.998171	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42649|0.42649	-0.9439|-0.9439	4|4	.|.	.|.	.|.	.|.	1.2265|1.2265	0.01934|0.01934	0.3928:0.234:0.1963:0.1769|0.3928:0.234:0.1963:0.1769	rs17073495;rs17073495|rs17073495;rs17073495	.|.	.|.	.|.	L|W	100|109	.|.	.|.	P|R	-|-	2|1	0|2	LAMA4|LAMA4	112615423|112615423	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.658000|0.658000	0.38924|0.38924	-3.407000|-3.407000	0.00481|0.00481	-1.865000|-1.865000	0.01147|0.01147	0.655000|0.655000	0.94253|0.94253	CCG|CGG		TCGA-IB-7651-01A-11D-2154-08	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	0	1	47	181	0	50	1	1	5	142	0	50	2		0	0	0	0	0	2	1	1	44	174	0	50	2								-2.691844	1	1	121412	131	53	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFPL4B	442247	broad.mit.edu	37	6	112671386	112671386	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112671386C>T	ENST00000441065.2	+	3	788	c.476C>T	c.(475-477)tCc>tTc	p.S159F	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B			14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)			AAGTCATGGTCCCTGGGCGTC	0.547000																								0							SO:0001583	missense			ENST00000441065.2	1	1	hg19	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552209	0.45487	.	.	ENSG00000251258	ENST00000441065	T	0.70282	-0.47	4.14	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.779066	0.10503	N	0.667099	T	0.52008	0.1708	L	0.35487	1.065	0.09310	N	1	D	0.62365	0.991	P	0.56163	0.793	T	0.33979	-0.9847	10	0.26408	T	0.33	.	5.4047	0.16314	0.1975:0.7003:0.0:0.1021	.	159	Q6ZWI9	RFPLB_HUMAN	F	159	ENSP00000423391:S159F	ENSP00000423391:S159F	S	+	2	0	RFPL4B	112778079	0.000000	0.05858	0.043000	0.18650	0.064000	0.16182	0.069000	0.14552	1.342000	0.45619	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	1	0	1	49	292	0	81	0	0	0	1	0	81	2		0	0	0	0	0	2	1	1	49	287	0	81	2								-19.999050	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
FRK	2444	broad.mit.edu	37	6	116381319	116381319	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116381319A>G	ENST00000606080.1	-	1	602	c.156T>C	c.(154-156)gaT>gaC	p.D52D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase			27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		Regorafenib(DB08896)	GAGCCTGGTAATCAAACAAAG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000606080.1	1	1	hg19	CCDS5103.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	1	0	0	92	467	0	120	1	7.649984e-01	7	9	0	120	2		0	0	0	0	0	2	1	1	90	455	0	120	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NT5DC1	221294	broad.mit.edu	37	6	116439102	116439102	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116439102T>C	ENST00000319550.4	+	6	605	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1			8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)			AATGTCAGCTTTTAAGGGTAA	0.328000													Colon(128;1440 1664 38087 41475 42869)											0							SO:0001583	missense			ENST00000319550.4	1	1	hg19	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	T	34	5.311997	0.95655	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.20881	2.85;2.04	5.76	5.76	0.90799	HAD-like domain (1);	0.109289	0.64402	D	0.000002	T	0.32102	0.0818	L	0.53561	1.675	0.80722	D	1	D;P;D	0.59767	0.986;0.94;0.984	D;P;P	0.67900	0.954;0.884;0.721	T	0.02567	-1.1140	10	0.52906	T	0.07	-8.5095	16.3634	0.83296	0.0:0.0:0.0:1.0	.	125;175;175	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	L	175	ENSP00000326858:F175L;ENSP00000393578:F175L	ENSP00000326858:F175L	F	+	1	0	NT5DC1	116545795	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.866000	0.75506	2.324000	0.78689	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	1	0	1	40	163	0	33	1	1	26	102	0	33	2		0	0	0	0	0	2	1	1	38	160	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL10A1	1300	broad.mit.edu	37	6	116441246	116441246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116441246G>T	ENST00000327673.4	-	2	2440	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	AL121963.1_ENST00000430695.1_5'Flank|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D			Q03692	COAA1_HUMAN	collagen, type X, alpha 1			13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)			TCACATTGGAGCCACTAGGAA	0.458000																								0							SO:0001583	missense			ENST00000327673.4	1	1	hg19	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520158	0.44866	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.86097	-2.07;-2.07	5.08	5.08	0.68730	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	P	0.59056	0.851	D	0.88058	0.2792	10	0.59425	D	0.04	.	14.4628	0.67462	0.0:0.147:0.853:0.0	.	678	Q03692	COAA1_HUMAN	D	678	ENSP00000243222:A678D;ENSP00000327368:A678D	ENSP00000243222:A678D	A	-	2	0	COL10A1	116547939	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.494000	0.60347	2.539000	0.85634	0.455000	0.32223	GCT		TCGA-IB-7651-01A-11D-2154-08	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1	1	0	0	53	666	0	174	0	1	0	1651	0	174	2		0	0	0	0	0	2	1	1	54	654	0	173	2								-11.939980	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.850000	0.650000	1.000000	1.000000	0.856941	0.850000	1	7.400000e-01	9.700000e-01
COL10A1	1300	broad.mit.edu	37	6	116442730	116442730	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116442730A>G	ENST00000327673.4	-	2	956	c.549T>C	c.(547-549)ggT>ggC	p.G183G	AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.G183G			Q03692	COAA1_HUMAN	collagen, type X, alpha 1			13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)			GTCCATTCATACCAGGGACTC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000327673.4	1	1	hg19	CCDS5105.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1	1	0	1	55	205	0	62	0	1	1	1373	0	62	2		0	0	0	0	0	2	1	1	54	204	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSE	29940	broad.mit.edu	37	6	116579730	116579730	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116579730G>T	ENST00000540275.1	+	2	245	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	RP3-486I3.7_ENST00000448740.2_lincRNA			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase			35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)			AGTTGGAGGAGCCCTTGGCAG	0.547000																								0							SO:0001583	missense			ENST00000540275.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.88	1.770961	0.31320	.	.	ENSG00000111817	ENST00000540275	.	.	.	2.61	-0.625	0.11548	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46498	-0.9187	5	0.87932	D	0	.	2.6014	0.04867	0.4093:0.0:0.3752:0.2156	.	.	.	.	S	42	.	ENSP00000446378:A42S	A	+	1	0	DSE	116686423	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	0.390000	0.20768	-0.303000	0.08856	0.420000	0.28162	GCC		TCGA-IB-7651-01A-11D-2154-08	DSE-203	KNOWN	basic	protein_coding	protein_coding		0	0	0	23	191	0	46	0	1.280082e-02	0	2	0	46	2		0	0	0	0	1	2	1	9.999995e-01	23	189	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.820000	1.000000	1.000000	0.986107	0.990000	1	9.900000e-01	1
TSPYL1	7259	broad.mit.edu	37	6	116600781	116600781	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116600781G>A	ENST00000368608.3	-	1	285	c.213C>T	c.(211-213)ccC>ccT	p.P71P	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1			11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)			CGGCATCCTGGGGTACGCCCC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000368608.3	1	1	hg19	CCDS34518.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1	1	0	0	28	354	0	48	1	9.979879e-01	14	109	0	48	2		0	0	0	0	0	2	1	1	28	347	0	44	2								-3.142705	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.850000	0.580000	1.000000	1.000000	0.847694	0.850000	1	7.000000e-01	1
DSE	29940	broad.mit.edu	37	6	116720703	116720703	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116720703G>A	ENST00000331677.3	+	3	734	c.290G>A	c.(289-291)cGc>cAc	p.R97H	DSE_ENST00000537543.1_Missense_Mutation_p.R116H|DSE_ENST00000452085.3_Missense_Mutation_p.R97H|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.R97H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase			35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)			TACAGTGCCCGCTGGAATGAA	0.542000																								0							SO:0001583	missense			ENST00000331677.3	1	1	hg19	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678193	0.88542	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.965	T	0.42464	-0.9450	10	0.72032	D	0.01	-16.5762	19.4929	0.95059	0.0:0.0:1.0:0.0	.	116;97	B7Z765;Q9UL01	.;DSE_HUMAN	H	97;97;116;97;97	ENSP00000397597:R97H;ENSP00000404049:R97H;ENSP00000441152:R116H;ENSP00000332151:R97H;ENSP00000352567:R97H	ENSP00000332151:R97H	R	+	2	0	DSE	116827396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.569000	0.73992	2.835000	0.97688	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	1	0	1	44	239	0	45	0	9.999485e-01	1	82	0	45	2		0	0	0	0	0	2	1	1	44	237	0	44	2								-20.000000	1	1	121412	4	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
DSE	29940	broad.mit.edu	37	6	116747782	116747782	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747782C>T	ENST00000331677.3	+	4	906	c.462C>T	c.(460-462)tcC>tcT	p.S154S	DSE_ENST00000606265.1_3'UTR|DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000359564.2_Silent_p.S154S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase			35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)			TTGCTCACTCCCTGGTTGGTT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000331677.3	1	1	hg19	CCDS5107.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	1	0	1	91	398	0	99	0	9.999921e-01	0	76	0	99	2		0	0	0	0	0	2	1	1	90	390	0	99	2								-3.081842	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSE	29940	broad.mit.edu	37	6	116747899	116747899	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747899C>T	ENST00000331677.3	+	4	1023	c.579C>T	c.(577-579)taC>taT	p.Y193Y	DSE_ENST00000537543.1_Silent_p.Y212Y|DSE_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000359564.2_Silent_p.Y193Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase			35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)			AAACTTCATACAGGAGAGGAT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000331677.3	1	1	hg19	CCDS5107.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	1	0	1	102	390	0	80	0	9.999987e-01	1	75	0	80	2		0	0	0	0	0	2	1	1	97	384	0	80	2								-3.804208	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSE	29940	broad.mit.edu	37	6	116757772	116757772	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116757772C>A	ENST00000331677.3	+	7	2585	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D	DSE_ENST00000537543.1_Missense_Mutation_p.A733D|DSE_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase			35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)			CAGGTCATTGCTGATCGTCAC	0.502000																								0							SO:0001583	missense			ENST00000331677.3	1	1	hg19	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807703	0.50421	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.06	6.06	0.98353	.	0.164825	0.56097	D	0.000029	T	0.67896	0.2942	L	0.51422	1.61	0.49389	D	0.999787	D;D	0.60160	0.987;0.987	P;P	0.60682	0.878;0.731	T	0.60969	-0.7157	10	0.33940	T	0.23	-13.3396	20.6397	0.99537	0.0:1.0:0.0:0.0	.	733;714	B7Z765;Q9UL01	.;DSE_HUMAN	D	714;733;714;714	ENSP00000404049:A714D;ENSP00000441152:A733D;ENSP00000332151:A714D;ENSP00000352567:A714D	ENSP00000332151:A714D	A	+	2	0	DSE	116864465	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	4.336000	0.59304	2.880000	0.98712	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	1	0	1	78	440	0	115	0	9.999990e-01	1	112	0	115	2		0	0	0	0	0	2	1	1	76	435	0	116	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM26D	221301	broad.mit.edu	37	6	116879157	116879157	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116879157T>C	ENST00000368596.3	+	2	772	c.728T>C	c.(727-729)cTc>cCc	p.L243P	FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P|FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D			6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)			TCTCGGCTCCTCATGATGCAT	0.493000																								0							SO:0001583	missense			ENST00000368596.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	15.27	2.784955	0.49997	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.99	5.99	0.97316	.	0.376324	0.22983	N	0.053285	T	0.32376	0.0827	M	0.83774	2.66	0.28482	N	0.914892	D;D	0.69078	0.997;0.988	D;P	0.63192	0.912;0.824	T	0.43032	-0.9416	10	0.59425	D	0.04	-0.0094	9.6239	0.39739	0.2437:0.0:0.0:0.7563	.	99;243	B4DTQ0;Q5JW98	.;FA26D_HUMAN	P	99;57;57;100;243	ENSP00000416976:L99P;ENSP00000357586:L57P;ENSP00000409556:L57P;ENSP00000385836:L100P;ENSP00000357585:L243P	ENSP00000357585:L243P	L	+	2	0	FAM26D	116985850	0.815000	0.29118	0.080000	0.20451	0.593000	0.36681	2.404000	0.44539	2.296000	0.77279	0.533000	0.62120	CTC		TCGA-IB-7651-01A-11D-2154-08	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1	1	0	0	52	515	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	52	501	0	98	2								-15.255640	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.800000	1.000000	1.000000	0.974178	0.990000	1	9.200000e-01	1
RSPH4A	345895	broad.mit.edu	37	6	116938420	116938420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116938420C>T	ENST00000229554.5	+	1	771	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)			27					GATCACCATTCAGAATGCTAA	0.478000									Kartagener syndrome															0							SO:0001587	stop_gained	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000229554.5	0	1	hg19	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998061	0.93227	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842;ENST00000368580	.	.	.	5.01	4.13	0.48395	.	0.318663	0.31721	N	0.007164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-1.7371	11.2373	0.48949	0.0:0.8155:0.1845:0.0	.	.	.	.	X	212;212;7;212	.	ENSP00000229554:Q212X	Q	+	1	0	RSPH4A	117045113	0.995000	0.38212	0.899000	0.35326	0.479000	0.33129	4.048000	0.57390	1.314000	0.45095	0.467000	0.42956	CAG		TCGA-IB-7651-01A-11D-2154-08	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	1	0	1	133	555	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	130	546	0	128	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RSPH4A	345895	broad.mit.edu	37	6	116949186	116949186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116949186G>A	ENST00000229554.5	+	3	1453	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)			27					GAACCAGGAAGACCATGGGTG	0.398000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000229554.5	1	1	hg19	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575649	0.28092	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.15952	2.38;2.38	5.74	3.85	0.44370	.	0.839247	0.11466	N	0.561204	T	0.02807	0.0084	N	0.12746	0.255	0.22511	N	0.999032	B;B	0.19445	0.02;0.036	B;B	0.25614	0.008;0.062	T	0.34004	-0.9846	10	0.05721	T	0.95	-8.6964	13.3698	0.60707	0.0:0.4343:0.5657:0.0	.	439;439	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	K	439;439;234	ENSP00000357570:R439K;ENSP00000229554:R439K	ENSP00000229554:R439K	R	+	2	0	RSPH4A	117055879	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.347000	0.44036	1.415000	0.47037	-0.165000	0.13383	AGA		TCGA-IB-7651-01A-11D-2154-08	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	1	0	1	65	328	0	74	0	0	1	0	0	74	2		0	0	0	0	0	2	1	1	65	321	0	73	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZUFSP	221302	broad.mit.edu	37	6	116968670	116968670	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116968670G>T	ENST00000368576.3	-	8	1663	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain			21					ACTACCTTTGGACTCCCTTCT	0.338000																								0							SO:0001583	missense			ENST00000368576.3	1	1	hg19	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	4.116	0.019786	0.08006	.	.	ENSG00000153975	ENST00000368576	T	0.28255	1.62	5.28	1.43	0.22495	.	0.488081	0.22018	N	0.065772	T	0.07593	0.0191	L	0.46157	1.445	0.22240	N	0.99927	B	0.21381	0.055	B	0.18263	0.021	T	0.39683	-0.9602	10	0.17832	T	0.49	-3.6716	5.8903	0.18909	0.2433:0.3319:0.4247:0.0	.	474	Q96AP4	ZUFSP_HUMAN	T	474	ENSP00000357565:P474T	ENSP00000357565:P474T	P	-	1	0	ZUFSP	117075363	0.995000	0.38212	0.014000	0.15608	0.352000	0.29268	0.566000	0.23593	-0.026000	0.13895	-0.657000	0.03884	CCA		TCGA-IB-7651-01A-11D-2154-08	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	1	0	1	74	356	0	109	1	9.726228e-01	7	23	0	109	2		0	0	0	0	0	2	1	1	69	346	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZUFSP	221302	broad.mit.edu	37	6	116988313	116988313	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116988313G>T	ENST00000368576.3	-	2	286	c.43C>A	c.(43-45)Cca>Aca	p.P15T	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain			21					TTCATGTCTGGTTCTGAGGTT	0.328000																								0							SO:0001583	missense			ENST00000368576.3	1	1	hg19	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474248	0.26423	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.41758	0.99;1.69	5.94	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.556492	0.20197	N	0.097170	T	0.12220	0.0297	L	0.46157	1.445	0.26349	N	0.977233	B	0.27013	0.166	B	0.28916	0.096	T	0.21965	-1.0230	10	0.30854	T	0.27	-7.5367	1.1741	0.01832	0.2616:0.1504:0.4327:0.1552	.	15	Q96AP4	ZUFSP_HUMAN	T	15	ENSP00000357565:P15T;ENSP00000357562:P15T	ENSP00000357562:P15T	P	-	1	0	ZUFSP	117095006	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.902000	0.28459	0.350000	0.24002	-0.367000	0.07326	CCA		TCGA-IB-7651-01A-11D-2154-08	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	1	0	1	79	378	0	90	1	9.831682e-01	11	22	0	90	2		0	0	0	0	0	2	1	1	79	375	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KPNA5	3841	broad.mit.edu	37	6	117037383	117037383	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117037383T>C	ENST00000368564.1	+	8	806	c.658T>C	c.(658-660)Tta>Cta	p.L220L	KPNA5_ENST00000356348.1_Splice_Site_p.L220L			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)			22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)			TCTTGGCAGGTTATTAACAAA	0.318000																								0							SO:0001630	splice_region_variant			ENST00000368564.1	1	0	hg19	CCDS5111.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	1	0	1	49	220	0	63	0	8.937778e-02	1	2	0	63	2		0	0	0	0	0	2	1	9.999989e-01	49	219	1	63	15								-20.000000	1	1	121410	4	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRC6A	222545	broad.mit.edu	37	6	117121752	117121752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117121752G>A	ENST00000310357.3	-	4	1564	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F	GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A			65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)			GTTACCTTAAGATTCCTGAAC	0.428000																								0							SO:0001583	missense			ENST00000310357.3	1	1	hg19	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792635	0.16258	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.90955	-2.51;-2.76	5.35	4.49	0.54785	.	0.000000	0.44483	D	0.000448	T	0.79015	0.4375	N	0.08118	0	0.36485	D	0.868098	D;D	0.56968	0.978;0.974	P;P	0.54815	0.761;0.553	T	0.83025	-0.0165	10	0.56958	D	0.05	.	5.8547	0.18712	0.3116:0.0:0.6884:0.0	.	340;515	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	F	515;340	ENSP00000309493:L515F;ENSP00000433465:L340F	ENSP00000309493:L515F	L	-	1	0	GPRC6A	117228445	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	2.238000	0.43070	1.498000	0.48600	0.585000	0.79938	CTT		TCGA-IB-7651-01A-11D-2154-08	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2	1	0	1	89	388	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	85	382	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFX6	222546	broad.mit.edu	37	6	117199106	117199106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117199106C>T	ENST00000332958.2	+	2	387	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6			59					ACACAGCTCACGCTGCAGTGG	0.468000																								0							SO:0001583	missense			ENST00000332958.2	1	1	hg19	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704563	0.88924	.	.	ENSG00000185002	ENST00000332958	D	0.83419	-1.72	5.36	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.56097	D	0.000029	D	0.88145	0.6358	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88648	0.3180	10	0.87932	D	0	-17.2098	14.6252	0.68616	0.0:0.9287:0.0:0.0713	.	124	Q8HWS3	RFX6_HUMAN	M	124	ENSP00000332208:T124M	ENSP00000332208:T124M	T	+	2	0	RFX6	117305799	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	5.142000	0.64820	2.789000	0.95967	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	1	0	1	34	165	0	61	0	3.103295e-02	0	2	0	61	2		0	0	0	0	0	2	1	1	34	158	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
RFX6	222546	broad.mit.edu	37	6	117203536	117203536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203536C>T	ENST00000332958.2	+	4	527	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6			59					TTAGACAATTCGCCAGAAGTT	0.403000																								0							SO:0001583	missense			ENST00000332958.2	1	1	hg19	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050990	0.93740	.	.	ENSG00000185002	ENST00000332958	D	0.86694	-2.16	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94452	0.7668	10	0.87932	D	0	-16.0365	19.7727	0.96373	0.0:1.0:0.0:0.0	.	171	Q8HWS3	RFX6_HUMAN	C	171	ENSP00000332208:R171C	ENSP00000332208:R171C	R	+	1	0	RFX6	117310229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.760000	0.68793	2.689000	0.91719	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	1	0	1	38	187	0	50	0	2.075323e-01	0	5	0	50	2		0	0	0	0	0	2	1	1	37	186	0	49	2								-20.000000	1	0	121410	1	27	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
RFX6	222546	broad.mit.edu	37	6	117241504	117241504	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117241504T>C	ENST00000332958.2	+	12	1230	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6			59					GACCAGCATGTCGTTAATTCT	0.393000																								0							SO:0001583	missense			ENST00000332958.2	1	1	hg19	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399836	0.62177	.	.	ENSG00000185002	ENST00000332958	T	0.55930	0.49	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.56769	1.78	0.58432	D	0.99999	P	0.39665	0.682	B	0.36134	0.218	T	0.46555	-0.9183	10	0.54805	T	0.06	-16.6606	15.8276	0.78727	0.0:0.0:0.0:1.0	.	405	Q8HWS3	RFX6_HUMAN	A	405	ENSP00000332208:V405A	ENSP00000332208:V405A	V	+	2	0	RFX6	117348197	1.000000	0.71417	0.916000	0.36221	0.782000	0.44232	7.649000	0.83500	2.122000	0.65172	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	1	0	1	140	625	0	159	0	8.932867e-02	0	3	0	159	2		0	0	0	0	0	2	1	1	138	615	0	159	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFX6	222546	broad.mit.edu	37	6	117248279	117248279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117248279G>T	ENST00000332958.2	+	17	1991	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6			59					CATTAACCAAGGACCAATGGC	0.527000																								0							SO:0001587	stop_gained			ENST00000332958.2	0	1	hg19	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	38	6.762283	0.97821	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.68	5.68	0.88126	.	0.342302	0.32444	N	0.006086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-14.095	19.7821	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	659	.	ENSP00000332208:G659X	G	+	1	0	RFX6	117354972	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.142000	0.77339	2.682000	0.91365	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	1	0	1	115	574	0	122	0	4.605503e-01	0	9	0	122	2		0	0	0	0	0	2	1	1	111	563	0	121	2								-3.082176	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VGLL2	245806	broad.mit.edu	37	6	117586967	117586967	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117586967C>T	ENST00000326274.5	+	1	231	c.41C>T	c.(40-42)cCg>cTg	p.P14L	VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2			5					TATGGTCCTCCGCAGCCCTAC	0.582000																								0							SO:0001583	missense			ENST00000326274.5	1	1	hg19	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326846	0.81690	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.43294	0.95	5.17	4.29	0.51040	.	0.072118	0.56097	D	0.000031	T	0.22666	0.0547	L	0.27053	0.805	0.58432	D	0.999996	P;D	0.60160	0.456;0.987	B;P	0.45377	0.082;0.478	T	0.03249	-1.1056	10	0.52906	T	0.07	-8.7661	14.9909	0.71387	0.1438:0.8562:0.0:0.0	.	14;14	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	L	14	ENSP00000320957:P14L	ENSP00000320957:P14L	P	+	2	0	VGLL2	117693660	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.794000	0.47853	1.154000	0.42482	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	1	0	1	40	183	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	1	40	182	0	34	2								-3.340406	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ROS1	6098	broad.mit.edu	37	6	117609778	117609778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117609778C>A	ENST00000368508.3	-	43	7119	c.6921G>T	c.(6919-6921)aaG>aaT	p.K2307N	ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)			CATGTGGTTCCTTCTCTTCTT	0.478000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC										Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0							SO:0001583	missense			ENST00000368508.3	1	1	hg19	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781434	0.49891	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.74002	-0.8;-0.8	4.5	3.64	0.41730	.	0.463960	0.18299	N	0.145467	T	0.45115	0.1326	L	0.27053	0.805	0.30118	N	0.805934	P	0.41313	0.745	B	0.38803	0.282	T	0.41520	-0.9504	10	0.72032	D	0.01	.	9.7257	0.40330	0.0:0.9041:0.0:0.0959	.	2307	P08922	ROS1_HUMAN	N	2307;2301	ENSP00000357494:K2307N;ENSP00000357493:K2301N	ENSP00000357493:K2301N	K	-	3	2	ROS1	117716471	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.783000	0.26802	1.118000	0.41863	0.563000	0.77884	AAG		TCGA-IB-7651-01A-11D-2154-08	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1	56	257	0	73	0	0	0	1	0	73	2		0	0	0	0	0	2	1	1	56	254	0	73	2								-3.166103	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROS1	6098	broad.mit.edu	37	6	117704623	117704623	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117704623C>T	ENST00000368508.3	-	16	2551	c.2353G>A	c.(2353-2355)Gtg>Atg	p.V785M	ROS1_ENST00000368507.3_Missense_Mutation_p.V780M|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)			AATAGCTTCACGTGGGTAACA	0.418000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC										Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0							SO:0001583	missense			ENST00000368508.3	1	1	hg19	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524783	0.44969	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91577	-2.87;-2.87	4.57	3.68	0.42216	.	0.126462	0.35378	N	0.003247	D	0.87229	0.6125	N	0.19112	0.55	0.36010	D	0.837963	D	0.76494	0.999	D	0.65987	0.94	D	0.89157	0.3527	10	0.72032	D	0.01	.	11.0181	0.47701	0.0:0.9065:0.0:0.0935	.	785	P08922	ROS1_HUMAN	M	785;780	ENSP00000357494:V785M;ENSP00000357493:V780M	ENSP00000357493:V780M	V	-	1	0	ROS1	117811316	0.997000	0.39634	0.916000	0.36221	0.490000	0.33462	3.832000	0.55783	2.260000	0.74910	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1	142	724	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1	142	709	0	126	2								-20.000000	1	1	121412	2	37	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROS1	6098	broad.mit.edu	37	6	117709106	117709106	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117709106T>G	ENST00000368508.3	-	13	2049	c.1851A>C	c.(1849-1851)caA>caC	p.Q617H	ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)			CAGGAGGGTCTTGGGTGGATA	0.443000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC										Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0							SO:0001583	missense			ENST00000368508.3	1	1	hg19	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932830	0.52866	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.84800	-1.9;1.08	5.39	0.293	0.15742	.	0.190179	0.37393	N	0.002110	T	0.75803	0.3899	L	0.47716	1.5	0.22903	N	0.998584	P	0.45348	0.856	P	0.51582	0.674	T	0.71374	-0.4612	10	0.66056	D	0.02	.	9.4166	0.38525	0.0:0.3978:0.0:0.6022	.	617	P08922	ROS1_HUMAN	H	617;612	ENSP00000357494:Q617H;ENSP00000357493:Q612H	ENSP00000357493:Q612H	Q	-	3	2	ROS1	117815799	0.015000	0.18098	0.207000	0.23584	0.900000	0.52787	-0.068000	0.11561	-0.094000	0.12374	0.459000	0.35465	CAA		TCGA-IB-7651-01A-11D-2154-08	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1	154	658	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	1	149	649	0	165	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROS1	6098	broad.mit.edu	37	6	117718173	117718173	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117718173A>G	ENST00000368508.3	-	7	882	c.684T>C	c.(682-684)taT>taC	p.Y228Y	ROS1_ENST00000368507.3_Silent_p.Y237Y|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)			GCCTTAAGTTATAACCCAAAA	0.418000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC										Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0							SO:0001819	synonymous_variant			ENST00000368508.3	1	1	hg19	CCDS5116.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1	127	553	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1	123	546	0	137	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROS1	6098	broad.mit.edu	37	6	117746757	117746757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117746757C>T	ENST00000368508.3	-	1	261	c.63G>A	c.(61-63)tgG>tgA	p.W21*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)			CCACAGAAATCCATAGGCAGC	0.393000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC										Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		O, E	0							SO:0001587	stop_gained			ENST00000368508.3	0	1	hg19	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	38	7.047808	0.98025	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.11	4.24	0.50183	.	0.289012	0.25848	N	0.027918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5281	0.39175	0.0:0.9049:0.0:0.0951	.	.	.	.	X	21	.	ENSP00000357493:W21X	W	-	3	0	ROS1	117853450	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.880000	0.56145	1.529000	0.49120	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1	1	0	1	95	507	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	94	495	0	103	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCBLD1	285761	broad.mit.edu	37	6	117841037	117841037	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117841037A>G	ENST00000338728.5	+	3	504	c.384A>G	c.(382-384)gtA>gtG	p.V128V	DCBLD1_ENST00000296955.8_Silent_p.V128V|DCBLD1_ENST00000368503.4_Silent_p.V128V|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1			26		all_cancers(87;0.171)			CAAGTGAAGTAACCGTCCGCT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000338728.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	1	0	1	81	312	0	64	1	9.999973e-01	13	61	0	64	2		0	0	0	0	0	2	1	1	77	311	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUS1	116150	broad.mit.edu	37	6	118015211	118015211	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118015211G>A	ENST00000368494.3	+	3	728	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)			8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)			TTGCCATTTGGCAGTGAAGGT	0.378000																								0							SO:0001583	missense			ENST00000368494.3	1	1	hg19	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442613	0.12164	.	.	ENSG00000153989	ENST00000368494	T	0.15487	2.42	5.23	2.21	0.28008	.	0.345965	0.34750	N	0.003709	T	0.01905	0.0060	N	0.20766	0.605	0.20403	N	0.99991	B	0.11235	0.004	B	0.11329	0.006	T	0.46331	-0.9199	10	0.02654	T	1	-0.2215	5.2402	0.15467	0.19:0.0:0.4535:0.3565	.	187	Q96E22	NGBR_HUMAN	T	187	ENSP00000357480:A187T	ENSP00000357480:A187T	A	+	1	0	NUS1	118121904	0.021000	0.18746	0.640000	0.29408	0.971000	0.66376	0.198000	0.17217	0.663000	0.31027	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	1	0	1	91	396	0	91	1	1	33	130	0	91	2		0	0	0	0	0	2	1	1	87	362	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35F1	222553	broad.mit.edu	37	6	118475773	118475773	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118475773C>T	ENST00000360388.4	+	2	540	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1			36					CCACACTAGCCGTCAGACAAG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000360388.4	1	1	hg19	CCDS34524.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	1	0	1	114	574	0	142	0	0	0	1	0	142	2		0	0	0	0	0	2	1	1	105	558	0	141	2								-2.884662	1	1	121412	18	45	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM184A	79632	broad.mit.edu	37	6	119337965	119337965	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119337965C>A	ENST00000338891.7	-	5	1920	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S|FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S|FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A			52					GCTTCAATTGCCATATGGTGC	0.348000																								0							SO:0001583	missense			ENST00000338891.7	1	1	hg19	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.611390|3.611390	0.66558|0.66558	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00333|.	8.07;8.07;8.07;8.07;8.07|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.172963|.	0.50627|.	D|.	0.000108|.	T|T	0.61022|0.61022	0.2314|0.2314	L|L	0.48362|0.48362	1.52|1.52	0.48236|0.48236	D|D	0.999613|0.999613	D;D;D|.	0.89917|.	0.998;1.0;0.999|.	D;D;D|.	0.83275|.	0.994;0.996;0.996|.	T|T	0.58498|0.58498	-0.7626|-0.7626	10|5	0.39692|.	T|.	0.17|.	-11.3991|-11.3991	18.6868|18.6868	0.91567|0.91567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493;373;493|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	S|C	493;373;373;493;373|78	ENSP00000342604:A493S;ENSP00000326608:A373S;ENSP00000357460:A373S;ENSP00000430442:A493S;ENSP00000429826:A373S|.	ENSP00000342604:A493S|.	A|W	-|-	1|3	0|0	FAM184A|FAM184A	119379664|119379664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.163000|3.163000	0.50763|0.50763	2.433000|2.433000	0.82419|0.82419	0.491000|0.491000	0.48974|0.48974	GCA|TGG		TCGA-IB-7651-01A-11D-2154-08	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	1	0	1	62	344	0	58	1	2.336817e-01	2	4	0	58	2		0	0	0	0	0	2	1	1	61	340	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM184A	79632	broad.mit.edu	37	6	119338092	119338092	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119338092C>A	ENST00000338891.7	-	5	1793	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A			52					GCTGAGTTCTCTTTGCTTCAT	0.333000																								0							SO:0001583	missense			ENST00000338891.7	1	1	hg19	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.938062|1.938062	0.34189|0.34189	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00351|.	7.97;7.97;7.97;7.97;7.97|.	4.94|4.94	2.16|2.16	0.27623|0.27623	.|.	0.154508|.	0.45867|.	D|.	0.000335|.	T|T	0.39627|0.39627	0.1085|0.1085	L|L	0.53249|0.53249	1.67|1.67	0.44635|0.44635	D|D	0.997614|0.997614	B;B;B|.	0.12630|.	0.003;0.006;0.003|.	B;B;B|.	0.12156|.	0.005;0.007;0.007|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.36615|.	T|.	0.2|.	-18.0805|-18.0805	5.6092|5.6092	0.17396|0.17396	0.1389:0.636:0.0:0.2251|0.1389:0.636:0.0:0.2251	.|.	450;330;450|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	N|I	450;330;330;450;330|36	ENSP00000342604:K450N;ENSP00000326608:K330N;ENSP00000357460:K330N;ENSP00000430442:K450N;ENSP00000429826:K330N|.	ENSP00000342604:K450N|.	K|R	-|-	3|2	2|0	FAM184A|FAM184A	119379791|119379791	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.912000|0.912000	0.54170|0.54170	0.768000|0.768000	0.26590|0.26590	0.146000|0.146000	0.19002|0.19002	0.491000|0.491000	0.48974|0.48974	AAG|AGA		TCGA-IB-7651-01A-11D-2154-08	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	1	0	1	44	202	0	43	0	3.692134e-01	0	7	0	43	2		0	0	0	0	0	2	1	1	44	200	0	43	2								-3.183502	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIVEP1	3096	broad.mit.edu	37	6	12123223	12123223	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123223C>T	ENST00000379388.2	+	4	3527	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1			90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)			ATGCTCTGGGCTGTAATCCCA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000379388.2	1	1	hg19	CCDS43426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	0	21	485	0	91	0	1.680767e-01	0	17	0	91	2	1	9.973113e-01	23	599	3	541	10	1	9.999974e-01	22	479	0	91	2								-4.321358	1	1	120814	1	31	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.480000	0.300000	0.700000	0.470000	0.496389	0.480000	0	3.800000e-01	5.900000e-01
HIVEP1	3096	broad.mit.edu	37	6	12123531	12123531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123531C>T	ENST00000379388.2	+	4	3835	c.3503C>T	c.(3502-3504)aCg>aTg	p.T1168M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1			90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)			CTGAATAGAACGGGGAAGTCC	0.527000																								0							SO:0001583	missense			ENST00000379388.2	0	1	hg19	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	3.747	-0.052347	0.07362	.	.	ENSG00000095951	ENST00000379388	T	0.30182	1.54	5.72	4.86	0.63082	.	0.231155	0.22308	N	0.061771	T	0.16085	0.0387	L	0.56769	1.78	0.09310	N	0.999999	D	0.56746	0.977	P	0.44597	0.454	T	0.08889	-1.0700	9	.	.	.	-1.3929	7.5367	0.27714	0.0:0.7144:0.1375:0.1481	.	1168	P15822	ZEP1_HUMAN	M	1168	ENSP00000368698:T1168M	.	T	+	2	0	HIVEP1	12231517	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.429000	0.21412	1.428000	0.47296	-0.136000	0.14681	ACG		TCGA-IB-7651-01A-11D-2154-08	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	0	0	0	8	237	0	44	0	1.552457e-01	0	19	0	44	2	1	9.999878e-01	24	806	0	735	2	1	9.891702e-01	8	234	0	42	2								-3.570173	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.390000	0.180000	0.690000	0.370000	0.412882	0.390000	0	2.700000e-01	5.400000e-01
HIVEP1	3096	broad.mit.edu	37	6	12124078	12124078	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12124078C>T	ENST00000379388.2	+	4	4382	c.4050C>T	c.(4048-4050)ggC>ggT	p.G1350G	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1			90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)			TTCCAGCTGGCTTGAATACTC	0.438000																								0							SO:0001819	synonymous_variant			ENST00000379388.2	1	1	hg19	CCDS43426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	0	14	247	0	60	0	1.291933e-01	1	10	0	60	2	1	1	25	724	0	617	2	1	9.997582e-01	14	244	0	59	2								-16.566390	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.620000	0.360000	0.970000	1.000000	0.645201	0.620000	0	4.800000e-01	8.000000e-01
HIVEP1	3096	broad.mit.edu	37	6	12125318	12125318	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12125318C>T	ENST00000379388.2	+	4	5622	c.5290C>T	c.(5290-5292)Cgg>Tgg	p.R1764W	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1			90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)			GCACCAGAAGCGGGCCAAAGA	0.438000																								0							SO:0001583	missense			ENST00000379388.2	1	1	hg19	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244506	0.79912	.	.	ENSG00000095951	ENST00000379388	T	0.51071	0.72	5.62	2.69	0.31865	.	0.000000	0.29106	N	0.013133	T	0.64000	0.2559	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72117	-0.4387	9	.	.	.	-24.794	14.6652	0.68901	0.3799:0.6201:0.0:0.0	.	1764	P15822	ZEP1_HUMAN	W	1764	ENSP00000368698:R1764W	.	R	+	1	2	HIVEP1	12233304	1.000000	0.71417	0.937000	0.37676	0.998000	0.95712	3.293000	0.51779	0.673000	0.31224	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	1	101	464	0	86	1	9.808607e-01	10	21	0	86	2	1	1	116	452	0	589	2	1	1	99	456	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIVEP1	3096	broad.mit.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1			90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)			CAGTTATGAGCGATCTGGATA	0.383000																								0							SO:0001587	stop_gained			ENST00000379388.2	0	1	hg19	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691961	0.88735	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	2.63	0.31362	.	0.000000	0.31392	N	0.007736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1929	14.4025	0.67056	0.576:0.424:0.0:0.0	.	.	.	.	X	2172;99;37;154	.	ENSP00000368698:R2172X	R	+	1	2	HIVEP1	12269684	0.999000	0.42202	0.995000	0.50966	0.717000	0.41224	0.624000	0.24462	0.631000	0.30412	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	1	95	433	0	100	0	9.593374e-01	0	26	0	100	2	1	1	141	748	0	806	2	1	1	93	431	0	100	2								-20.000000	1	1	120878	1	31	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSF2	3298	broad.mit.edu	37	6	122753094	122753094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:122753094C>T	ENST00000368455.4	+	13	1532	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	HSF2_ENST00000452194.1_Missense_Mutation_p.A429V	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2			16					CAGTATACCGCCTTTCCACTT	0.413000																								0							SO:0001583	missense			ENST00000368455.4	1	1	hg19	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848981	0.71603	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.46	5.46	0.80206	Vertebrate heat shock transcription factor (1);	0.246309	0.43919	D	0.000511	T	0.50051	0.1593	M	0.64404	1.975	0.45791	D	0.998672	B;P	0.46578	0.314;0.88	B;B	0.40636	0.044;0.335	T	0.61247	-0.7101	9	0.87932	D	0	-10.8781	19.2991	0.94136	0.0:1.0:0.0:0.0	.	429;447	Q03933-2;Q03933	.;HSF2_HUMAN	V	447;429	.	ENSP00000357440:A447V	A	+	2	0	HSF2	122794793	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	5.120000	0.64685	2.573000	0.86826	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	1	0	1	94	617	0	116	1	9.926386e-01	8	43	0	116	2		0	0	0	0	0	2	1	1	94	608	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
EDN1	1906	broad.mit.edu	37	6	12292728	12292728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12292728G>A	ENST00000379375.5	+	2	486	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1			13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)			ACATCATTTGGGTCAACACTC	0.542000																								0							SO:0001587	stop_gained			ENST00000379375.5	0	1	hg19	CCDS4522.1	.	.	.	.	.	.	.	.	.	.	G	40	8.185874	0.98696	.	.	ENSG00000078401	ENST00000379375	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3417	20.0417	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000368683:W73X	W	+	3	0	EDN1	12400714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.484000	0.97940	2.736000	0.93811	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	1	0	0	71	356	0	79	1	1	47	133	0	79	2		0	0	0	0	0	2	1	1	69	349	0	78	2								-2.825490	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKIB	5570	broad.mit.edu	37	6	123046319	123046319	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123046319G>A	ENST00000368448.1	+	6	843	c.216G>A	c.(214-216)aaG>aaA	p.K72K	PKIB_ENST00000392490.1_Silent_p.K72K|PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000258014.3_Silent_p.K79K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000354275.2_Silent_p.K72K			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta			4					AATTGGAAAAGCCTCAAAATG	0.294000																								0							SO:0001819	synonymous_variant			ENST00000368448.1	1	1	hg19	CCDS5126.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042035.1	1	0	1	13	59	0	31	1	9.999937e-01	34	84	0	31	2		0	0	0	0	0	2	1	9.996753e-01	13	58	0	31	2								-10.795970	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998487	0.990000	1	9.900000e-01	1
SMPDL3A	10924	broad.mit.edu	37	6	123127404	123127404	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123127404G>A	ENST00000368440.4	+	7	1123	c.946G>A	c.(946-948)Gct>Act	p.A316T	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A			10					TTTGTTTGTGGCTCCTGCTGT	0.318000																								0							SO:0001583	missense			ENST00000368440.4	1	1	hg19	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	5.830	0.337335	0.11013	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.86865	-2.18;-2.18	5.76	4.87	0.63330	.	0.299636	0.38663	N	0.001612	T	0.66056	0.2751	L	0.28192	0.835	0.47994	D	0.999561	B	0.22080	0.064	B	0.15870	0.014	T	0.64980	-0.6279	10	0.30854	T	0.27	-13.8831	9.4081	0.38473	0.0719:0.0:0.7831:0.1449	.	316	Q92484	ASM3A_HUMAN	T	316;185	ENSP00000357425:A316T;ENSP00000442152:A185T	ENSP00000357425:A316T	A	+	1	0	SMPDL3A	123169103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	1.533000	0.49186	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	1	0	1	35	218	0	51	1	9.999796e-01	40	66	0	51	2		0	0	0	0	0	2	1	1	35	210	0	50	2								-16.823870	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999811	0.990000	1	9.900000e-01	1
HEY2	23493	broad.mit.edu	37	6	126080535	126080535	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126080535G>A	ENST00000368364.3	+	5	798	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2			14					CCAGCCCAACGGCCTCCATGC	0.657000																								0							SO:0001583	missense			ENST00000368364.3	1	1	hg19	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682158	0.29872	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.57752	0.39;0.38	5.59	5.59	0.84812	.	0.710025	0.13163	N	0.408932	T	0.51975	0.1706	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.39800	-0.9596	10	0.07175	T	0.84	-17.0872	19.5876	0.95496	0.0:0.0:1.0:0.0	.	201	Q9UBP5	HEY2_HUMAN	S	155;201	ENSP00000357349:G155S;ENSP00000357348:G201S	ENSP00000357348:G201S	G	+	1	0	HEY2	126122228	.	.	0.998000	0.56505	0.608000	0.37181	.	.	2.625000	0.88918	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1	1	0	1	256	1252	0	230	0	5.263483e-01	0	10	0	230	2		0	0	0	0	0	2	1	1	255	1227	0	230	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRMT11	60487	broad.mit.edu	37	6	126319743	126319743	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126319743G>A	ENST00000334379.5	+	6	556	c.435G>A	c.(433-435)ccG>ccA	p.P145P	TRMT11_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_Silent_p.P145P	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	p.P145P(1)		18					TAAAGAAACCGCAACATGTAT	0.318000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000334379.5	0	1	hg19	CCDS35496.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	8	374	0	61	1	4.375822e-01	2	63	0	61	2		0	0	0	0	0	2	1	9.889659e-01	8	369	0	61	2								-2.969504	1	1	121412	1	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.250000	0.110000	0.450000	0.240000	0.268720	0.250000	0	1.700000e-01	3.500000e-01
TRMT11	60487	broad.mit.edu	37	6	126332478	126332478	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126332478G>A	ENST00000334379.5	+	9	961	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TRMT11_ENST00000368332.3_Silent_p.E280E	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)			18					ATGGTTTAGAGAAGTATTACC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000334379.5	1	1	hg19	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897034	0.17686	.	.	ENSG00000066651	ENST00000453993	T	0.45276	0.9	5.62	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05616	-1.0874	7	0.07644	T	0.81	-16.5083	7.9756	0.30153	0.3331:0.0:0.6669:0.0	.	.	.	.	K	79	ENSP00000410498:E79K	ENSP00000410498:E79K	E	+	1	0	TRMT11	126374171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.594000	0.36697	1.393000	0.46605	-0.137000	0.14449	GAA		TCGA-IB-7651-01A-11D-2154-08	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	37	137	0	39	1	9.999965e-01	29	48	0	39	2		0	0	0	0	0	2	1	1	37	133	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRMT11	60487	broad.mit.edu	37	6	126342391	126342391	+	Missense_Mutation	SNP	C	C	T	rs143525602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126342391C>T	ENST00000334379.5	+	12	1346	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409C	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)			18					CACATCAAGGCGCTTGATCAC	0.403000																								0							SO:0001583	missense			ENST00000334379.5	1	1	hg19	CCDS35496.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.8	4.340821	0.81911	0.0	1.16E-4	ENSG00000066651	ENST00000334379;ENST00000368332	T;T	0.56444	0.47;0.46	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.877	T	0.72827	-0.4175	10	0.54805	T	0.06	-1.4668	13.9605	0.64175	0.0:0.9274:0.0:0.0726	.	409;409	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	C	409	ENSP00000333934:R409C;ENSP00000357316:R409C	ENSP00000333934:R409C	R	+	1	0	TRMT11	126384084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.745000	0.62125	2.669000	0.90835	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	24	306	0	73	1	9.993850e-01	14	136	0	73	2		0	0	0	0	0	2	1	9.999997e-01	24	302	0	72	2								-20.000000	1	1	121412	2	31	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.840000	0.560000	1.000000	1.000000	0.840888	0.840000	0	6.900000e-01	1
CENPW	387103	broad.mit.edu	37	6	126661536	126661536	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126661536T>C	ENST00000368328.4	+	1	217	c.117T>C	c.(115-117)ggT>ggC	p.G39G	CENPW_ENST00000368325.1_Silent_p.G39G|CENPW_ENST00000368326.1_Silent_p.G39G			Q5EE01	CENPW_HUMAN	centromere protein W			6					AGAAAAGTGGTGACTTATTGG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000368328.4	1	1	hg19	CCDS34529.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1	1	0	1	63	283	0	60	1	9.997937e-01	18	41	0	60	2		0	0	0	0	0	2	1	1	62	279	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RSPO3	84870	broad.mit.edu	37	6	127440424	127440424	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127440424C>T	ENST00000356698.4	+	1	676	c.87C>T	c.(85-87)cgC>cgT	p.R29R	RSPO3_ENST00000368317.3_Silent_p.R29R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3		PTPRK/RSPO3(10)	17					GGGGAAGGCGCCAGCGAAGAA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000356698.4	1	1	hg19	CCDS5135.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	1	0	1	79	498	0	107	0	4.602967e-01	0	11	0	107	2		0	0	0	0	0	2	1	1	79	491	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RSPO3	84870	broad.mit.edu	37	6	127476492	127476492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127476492G>T	ENST00000356698.4	+	4	1132	c.543G>T	c.(541-543)caG>caT	p.Q181H	RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3		PTPRK/RSPO3(10)	17					AAATAATACAGCATCCTTCAG	0.463000																								0							SO:0001583	missense			ENST00000356698.4	1	1	hg19	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016045	0.54468	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.81659	-1.52;-1.52	5.7	2.14	0.27477	.	0.051847	0.85682	D	0.000000	T	0.77458	0.4133	L	0.45470	1.425	0.44330	D	0.997217	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.74396	-0.3679	10	0.30854	T	0.27	-26.4136	9.0582	0.36419	0.4722:0.0:0.5278:0.0	.	181;181	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	H	181	ENSP00000349131:Q181H;ENSP00000357300:Q181H	ENSP00000349131:Q181H	Q	+	3	2	RSPO3	127518185	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.619000	0.24388	0.589000	0.29677	0.557000	0.71058	CAG		TCGA-IB-7651-01A-11D-2154-08	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	1	0	1	75	354	0	89	0	9.451572e-01	0	25	0	89	2		0	0	0	0	0	2	1	1	75	346	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF146	81847	broad.mit.edu	37	6	127608109	127608109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608109C>T	ENST00000368314.1	+	3	775	c.351C>T	c.(349-351)taC>taT	p.Y117Y	RNF146_ENST00000608991.1_Silent_p.Y116Y|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Silent_p.Y117Y|RNF146_ENST00000309649.3_Silent_p.Y116Y	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146			10					GGTGGCAGTACGATGAGCGCA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000368314.1	1	1	hg19	CCDS56449.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	0	0	1	92	403	1	95	1	9.999985e-01	17	142	1	95	8		0	0	0	0	0	2	1	1	90	392	1	94	18								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF146	81847	broad.mit.edu	37	6	127608756	127608756	+	Missense_Mutation	SNP	G	G	A	rs143742264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608756G>A	ENST00000368314.1	+	3	1422	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	RNF146_ENST00000608991.1_Missense_Mutation_p.R332Q|RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000610153.1_Missense_Mutation_p.R333Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146			10					GGAACTGATCGATCAGTAGCA	0.463000																								0							SO:0001583	missense			ENST00000368314.1	1	1	hg19	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	3.677	-0.066358	0.07273	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.25579	1.79;1.79;1.79	4.61	-0.595	0.11660	.	1.108200	0.07123	N	0.844185	T	0.04770	0.0129	N	0.21448	0.665	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.56958	D	0.05	0.0803	1.6901	0.02850	0.1802:0.3044:0.3591:0.1563	.	333	Q9NTX7	RN146_HUMAN	Q	333;332;332	ENSP00000357297:R333Q;ENSP00000349253:R332Q;ENSP00000309365:R332Q	ENSP00000309365:R332Q	R	+	2	0	RNF146	127650449	0.993000	0.37304	0.007000	0.13788	0.162000	0.22319	1.915000	0.39976	-0.231000	0.09825	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	1	0	1	62	293	0	83	1	1	19	112	0	83	2		0	0	0	0	0	2	1	1	60	286	0	83	2								-3.376040	1	1	121404	1	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECHDC1	55862	broad.mit.edu	37	6	127611094	127611094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127611094C>T	ENST00000531967.1	-	6	1347	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1			4					AGATCTCTTTCGTTCTGTAAT	0.383000																								0							SO:0001583	missense			ENST00000531967.1	1	1	hg19	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870546	0.91587	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.22	4.36	0.52297	.	0.045054	0.85682	N	0.000000	D	0.86952	0.6057	M	0.88640	2.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.89839	0.4001	10	0.87932	D	0	-3.0695	14.0748	0.64882	0.0:0.9269:0.0:0.0731	.	282	Q9NTX5	ECHD1_HUMAN	K	276;282;276;201;259;276	ENSP00000401751:E276K;ENSP00000436585:E282K;ENSP00000434908:E276K;ENSP00000404866:E201K;ENSP00000311115:E259K;ENSP00000402492:E276K	ENSP00000311115:E259K	E	-	1	0	ECHDC1	127652787	1.000000	0.71417	0.727000	0.30756	0.953000	0.61014	7.249000	0.78278	1.331000	0.45412	0.563000	0.77884	GAA		TCGA-IB-7651-01A-11D-2154-08	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2	1	0	1	131	542	0	106	1	1	60	160	0	106	2		0	0	0	0	0	2	1	1	128	528	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0408	9729	broad.mit.edu	37	6	127765336	127765336	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127765336C>A	ENST00000483725.3	-	6	2339	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408			28					AGATGGAGATCTGGATGCCCA	0.517000																								0							SO:0001583	missense			ENST00000483725.3	1	1	hg19	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999775	0.93227	.	.	ENSG00000189367	ENST00000483725	T	0.22336	1.96	6.07	6.07	0.98685	.	0.000000	0.39341	U	0.001396	T	0.41213	0.1149	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13791	-1.0496	10	0.87932	D	0	-8.9135	20.6525	0.99598	0.0:1.0:0.0:0.0	.	668;551	Q6ZU52;Q6ZU52-2	K0408_HUMAN;.	I	668	ENSP00000435150:R668I	ENSP00000435150:R668I	R	-	2	0	KIAA0408	127807029	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	6.269000	0.72558	2.890000	0.99128	0.585000	0.79938	AGA		TCGA-IB-7651-01A-11D-2154-08	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	1	0	1	48	186	0	46	0	9.191204e-01	0	19	0	46	2		0	0	0	0	0	2	1	1	47	183	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0408	9729	broad.mit.edu	37	6	127771148	127771148	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771148C>A	ENST00000483725.3	-	3	821	c.485G>T	c.(484-486)gGc>gTc	p.G162V	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408			28					ACTGAGGGCGCCAGAACAGCT	0.433000																								0							SO:0001583	missense			ENST00000483725.3	1	1	hg19	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941767	0.18281	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.44083	1.51;0.93	5.71	2.4	0.29515	.	0.663988	0.11713	N	0.536664	T	0.14527	0.0351	L	0.39633	1.23	0.20074	N	0.999935	B	0.32203	0.36	B	0.32022	0.139	T	0.16012	-1.0417	10	0.39692	T	0.17	-0.3259	6.567	0.22517	0.2803:0.5805:0.0:0.1392	.	162	Q6ZU52	K0408_HUMAN	V	162;174	ENSP00000435150:G162V;ENSP00000434384:G174V	ENSP00000435150:G162V	G	-	2	0	KIAA0408	127812841	0.089000	0.21612	0.171000	0.22900	0.851000	0.48451	1.112000	0.31172	0.693000	0.31634	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	1	0	1	84	361	0	72	0	5.317241e-01	0	9	0	72	2		0	0	0	0	0	2	1	1	83	357	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0408	9729	broad.mit.edu	37	6	127771254	127771254	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771254T>A	ENST00000483725.3	-	3	715	c.379A>T	c.(379-381)Aaa>Taa	p.K127*	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408			28					ACTTTTGATTTTTTTGTTGCT	0.418000																								0							SO:0001587	stop_gained			ENST00000483725.3	0	1	hg19	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	T	32	5.134437	0.94517	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	.	.	.	5.18	2.82	0.32997	.	0.161017	0.28031	U	0.016865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4347	7.355	0.26714	0.0:0.2632:0.0:0.7368	.	.	.	.	X	127;139	.	ENSP00000435150:K127X	K	-	1	0	KIAA0408	127812947	0.003000	0.15002	0.002000	0.10522	0.735000	0.41995	1.154000	0.31688	0.448000	0.26722	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	1	0	1	134	566	0	104	0	5.390498e-01	0	9	0	104	2		0	0	0	0	0	2	1	1	133	550	0	103	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf58	352999	broad.mit.edu	37	6	127898440	127898440	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127898440C>A	ENST00000329722.7	+	1	122	c.110C>A	c.(109-111)cCt>cAt	p.P37H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58			15					AAGGAGAGTCCTGGTCAGCTC	0.463000																								0							SO:0001583	missense			ENST00000329722.7	1	1	hg19	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747510	0.69533	.	.	ENSG00000184530	ENST00000329722	T	0.52983	0.64	5.24	4.37	0.52481	.	0.255048	0.39083	N	0.001480	T	0.61788	0.2375	M	0.83012	2.62	0.37613	D	0.920992	D	0.89917	1.0	D	0.80764	0.994	T	0.70865	-0.4756	10	0.87932	D	0	-17.8447	12.7508	0.57308	0.0:0.9185:0.0:0.0815	.	37	Q6P5S2	CF058_HUMAN	H	37	ENSP00000328069:P37H	ENSP00000328069:P37H	P	+	2	0	C6orf58	127940133	0.503000	0.26115	0.704000	0.30370	0.959000	0.62525	1.480000	0.35464	1.216000	0.43427	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	0	0	1	91	470	1	128		0	0	0	1	128	2		0	0	0	0	0	2	1	1	89	456	1	128	15								-3.227237	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THEMIS	387357	broad.mit.edu	37	6	128134272	128134272	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134272G>A	ENST00000368248.2	-	4	1662	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	THEMIS_ENST00000368250.1_Missense_Mutation_p.P426L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L|THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated			60					GCGGCCCACAGGAATTTCCCA	0.478000																								0							SO:0001583	missense			ENST00000368248.2	1	1	hg19	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384593	0.61845	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63427	-0.6640	10	0.87932	D	0	-14.1489	16.9552	0.86257	0.0:0.1277:0.8723:0.0	.	505;505	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	426;505;505;470	ENSP00000357233:P426L;ENSP00000439594:P505L;ENSP00000357231:P505L;ENSP00000439863:P470L	ENSP00000357231:P505L	P	-	2	0	THEMIS	128175965	1.000000	0.71417	0.900000	0.35374	0.978000	0.69477	7.842000	0.86851	1.459000	0.47892	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	59	328	0	64	0	4.141294e-01	0	9	0	64	2		0	0	0	0	0	2	1	1	58	323	0	63	2								-2.883457	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
THEMIS	387357	broad.mit.edu	37	6	128134756	128134756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134756G>A	ENST00000368248.2	-	4	1178	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	THEMIS_ENST00000368250.1_Missense_Mutation_p.R265W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W|THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated			60					CTCGGTCGCCGCTTGAACTTG	0.468000																								0							SO:0001583	missense			ENST00000368248.2	1	1	hg19	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304997	0.60305	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.55	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83223	2.63	0.44816	D	0.997821	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59731	-0.7399	10	0.87932	D	0	-12.3425	18.7037	0.91630	0.0:0.0:0.1846:0.8154	.	344;344	F5H1J9;Q8N1K5	.;THMS1_HUMAN	W	265;344;344;309;112	ENSP00000357233:R265W;ENSP00000439594:R344W;ENSP00000357231:R344W;ENSP00000439863:R309W;ENSP00000387740:R112W	ENSP00000357231:R344W	R	-	1	2	THEMIS	128176449	0.996000	0.38824	0.996000	0.52242	0.990000	0.78478	0.253000	0.18296	-0.097000	0.12307	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	100	402	0	84	0	1.820136e-01	0	4	0	84	2		0	0	0	0	0	2	1	1	99	397	0	82	2								-3.376792	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THEMIS	387357	broad.mit.edu	37	6	128176327	128176327	+	Missense_Mutation	SNP	A	A	C	rs141623918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128176327A>C	ENST00000368248.2	-	2	246	c.98T>G	c.(97-99)aTt>aGt	p.I33S	THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000537166.1_5'UTR|THEMIS_ENST00000543064.1_Missense_Mutation_p.I33S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated			60					CATTTCATAAATAGAGCCTAA	0.289000																								0							SO:0001583	missense			ENST00000368248.2	0	1	hg19	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474656	0.63737	.	.	ENSG00000172673	ENST00000543064;ENST00000368248	T;T	0.11604	2.76;2.76	5.73	4.57	0.56435	.	0.585491	0.17487	N	0.172463	T	0.10895	0.0266	M	0.72894	2.215	0.80722	D	1	D;B	0.57571	0.98;0.379	P;B	0.48270	0.572;0.343	T	0.01725	-1.1287	10	0.87932	D	0	-1.9501	11.4026	0.49878	0.9295:0.0:0.0705:0.0	.	33;33	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	33	ENSP00000439594:I33S;ENSP00000357231:I33S	ENSP00000357231:I33S	I	-	2	0	THEMIS	128218020	0.996000	0.38824	0.696000	0.30242	0.873000	0.50193	4.017000	0.57167	0.995000	0.38917	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	0	0	22	105	0	26	0	3.621042e-01	0	7	0	26	2		0	0	0	0	0	2	1	9.999994e-01	22	105	0	26	2								-20.000000	1	1	121170	1	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999846	0.990000	1	9.900000e-01	1
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128505667C>T	ENST00000368215.3	-	7	1071	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368227.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K		PTPRK/RSPO3(10)	72					ATCTCATATTCGGTATCTGGA	0.458000																								0							SO:0001583	missense			ENST00000368215.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	31	5.063200	0.93898	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D;P;P	0.69078	0.985;0.997;0.996;0.997;0.949;0.937	P;D;P;P;P;B	0.63957	0.642;0.92;0.869;0.875;0.489;0.356	D	0.87058	0.2151	10	0.56958	D	0.05	.	19.3758	0.94508	0.0:1.0:0.0:0.0	.	358;358;358;215;358;358	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	K	358;358;358;358;358;358;358;215	ENSP00000357209:E358K;ENSP00000357210:E358K;ENSP00000432973:E358K;ENSP00000357196:E358K;ENSP00000357193:E358K;ENSP00000357198:E358K;ENSP00000357190:E358K	ENSP00000357190:E358K	E	-	1	0	PTPRK	128547360	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	5.999000	0.70665	2.577000	0.86979	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1	1	0	1	124	589	0	146	1	1	69	130	0	146	2		0	0	0	0	0	2	1	1	121	581	0	145	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA2	3908	broad.mit.edu	37	6	129371108	129371108	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129371108C>T	ENST00000421865.2	+	2	207	c.158C>T	c.(157-159)aCg>aTg	p.T53M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2			194					GCTCTTATCACGACCAATGCA	0.443000																								0							SO:0001583	missense			ENST00000421865.2	1	1	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942453	0.73672	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.76316	-1.01	5.44	5.44	0.79542	Laminin, N-terminal (3);	0.234157	0.36815	N	0.002397	T	0.82254	0.4997	L	0.42581	1.335	0.44834	D	0.997846	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.963	D	0.83824	0.0248	10	0.72032	D	0.01	.	19.2501	0.93921	0.0:1.0:0.0:0.0	.	53;53	A6NF00;P24043	.;LAMA2_HUMAN	M	53	ENSP00000400365:T53M	ENSP00000346769:T53M	T	+	2	0	LAMA2	129412801	0.977000	0.34250	0.999000	0.59377	0.933000	0.57130	2.192000	0.42649	2.552000	0.86080	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	0	0	0	15	406	0	71	0	4.664138e-01	0	42	0	71	2		0	0	0	0	0	2	1	9.998602e-01	14	399	0	71	2								-3.707844	1	1	121412	1	31	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.410000	0.240000	0.650000	0.410000	0.434234	0.410000	0	3.200000e-01	5.400000e-01
LAMA2	3908	broad.mit.edu	37	6	129511410	129511410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129511410G>A	ENST00000421865.2	+	11	1577	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2			194					TTTGCAAGAGGATAATTGGAA	0.433000																								0							SO:0001583	missense			ENST00000421865.2	1	1	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023845	0.19433	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61859	0.07	5.79	2.64	0.31445	EGF-like, laminin (4);	0.619591	0.16364	N	0.217639	T	0.13756	0.0333	N	0.04805	-0.155	0.27801	N	0.942499	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.28267	-1.0049	10	0.13108	T	0.6	.	11.4699	0.50261	0.2851:0.0:0.7149:0.0	.	510;510	A6NF00;P24043	.;LAMA2_HUMAN	N	510	ENSP00000400365:D510N	ENSP00000346769:D510N	D	+	1	0	LAMA2	129553103	1.000000	0.71417	0.906000	0.35671	0.980000	0.70556	1.345000	0.33953	0.805000	0.34159	-0.136000	0.14681	GAT		TCGA-IB-7651-01A-11D-2154-08	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1	46	245	0	67	0	9.999781e-01	0	88	0	67	2		0	0	0	0	0	2	1	1	45	241	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
LAMA2	3908	broad.mit.edu	37	6	129612818	129612818	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129612818T>G	ENST00000421865.2	+	20	2858	c.2809T>G	c.(2809-2811)Tgt>Ggt	p.C937G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2			194					AACTGGACAGTGTGAGTGCAG	0.468000																								0							SO:0001583	missense			ENST00000421865.2	1	1	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158311	0.57368	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94280	-3.39	5.56	5.56	0.83823	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99828	1.1052	10	0.87932	D	0	.	16.0068	0.80367	0.0:0.0:0.0:1.0	.	937;937	A6NF00;P24043	.;LAMA2_HUMAN	G	937	ENSP00000400365:C937G	ENSP00000346769:C937G	C	+	1	0	LAMA2	129654511	1.000000	0.71417	0.984000	0.44739	0.041000	0.13682	7.696000	0.84270	2.241000	0.73720	0.482000	0.46254	TGT		TCGA-IB-7651-01A-11D-2154-08	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1	33	125	0	50	0	9.999996e-01	0	95	0	50	2		0	0	0	0	0	2	1	1	33	124	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LAMA2	3908	broad.mit.edu	37	6	129618972	129618972	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129618972C>T	ENST00000421865.2	+	21	3048	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2			194					GACCGCTGTGCCCACGGCTAT	0.453000																								0							SO:0001583	missense			ENST00000421865.2	1	1	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435747	0.83885	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.63096	-0.02	5.59	4.71	0.59529	EGF-like, laminin (4);	0.089738	0.48286	D	0.000185	T	0.62780	0.2456	M	0.64260	1.97	0.50632	D	0.999883	D;D	0.58970	0.984;0.984	P;P	0.60236	0.871;0.871	T	0.64757	-0.6332	10	0.40728	T	0.16	.	11.413	0.49935	0.1421:0.7213:0.1366:0.0	.	1000;1000	A6NF00;P24043	.;LAMA2_HUMAN	V	1000	ENSP00000400365:A1000V	ENSP00000346769:A1000V	A	+	2	0	LAMA2	129660665	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.952000	0.56691	1.344000	0.45657	-0.181000	0.13052	GCC		TCGA-IB-7651-01A-11D-2154-08	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1	29	145	0	32	0	9.999455e-01	0	81	0	32	2		0	0	0	0	0	2	1	1	29	138	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
LAMA2	3908	broad.mit.edu	37	6	129634016	129634016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129634016G>A	ENST00000421865.2	+	23	3234	c.3185G>A	c.(3184-3186)tGc>tAc	p.C1062Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2			194					GCTTGTAACTGCAGCACAGTG	0.363000																								0							SO:0001583	missense			ENST00000421865.2	1	1	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327102	0.81690	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	5.92	5.92	0.95590	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	H	0.99507	4.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99368	1.0919	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	1062;1062	A6NF00;P24043	.;LAMA2_HUMAN	Y	1062	ENSP00000400365:C1062Y	ENSP00000346769:C1062Y	C	+	2	0	LAMA2	129675709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.286000	0.89916	2.822000	0.97130	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1	24	110	0	26	0	9.998811e-01	0	71	0	26	2		0	0	0	0	0	2	1	9.999998e-01	24	105	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
LAMA2	3908	broad.mit.edu	37	6	129687457	129687457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687457C>T	ENST00000421865.2	+	33	4860	c.4811C>T	c.(4810-4812)gCg>gTg	p.A1604V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2			194					CCGCTGCCTGCGCCATATAAA	0.512000																								0							SO:0001583	missense			ENST00000421865.2	1	1	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710739	0.30322	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.11063	2.81	5.05	4.18	0.49190	Laminin I (1);	0.125811	0.56097	N	0.000037	T	0.08223	0.0205	L	0.32530	0.975	0.37433	D	0.914102	D;D	0.67145	0.996;0.992	P;P	0.56700	0.804;0.772	T	0.24154	-1.0168	10	0.31617	T	0.26	.	11.8454	0.52381	0.0:0.919:0.0:0.081	.	1604;1604	A6NF00;P24043	.;LAMA2_HUMAN	V	1604	ENSP00000400365:A1604V	ENSP00000346769:A1604V	A	+	2	0	LAMA2	129729150	1.000000	0.71417	0.997000	0.53966	0.507000	0.33981	4.074000	0.57577	1.259000	0.44117	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1	53	208	0	58	0	9.999988e-01	0	84	0	58	2		0	0	0	0	0	2	1	1	54	205	0	57	2								-20.000000	1	0	121408	2	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA2	3908	broad.mit.edu	37	6	129781471	129781471	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129781471T>C	ENST00000421865.2	+	49	7041		c.e49+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2			194					CACTGTCAGGTTAGTTGAGAT	0.408000																								0							SO:0001630	splice_region_variant			ENST00000421865.2	1	1	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685813	0.68157	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4338	0.83864	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129823164	1.000000	0.71417	0.949000	0.38748	0.500000	0.33767	7.694000	0.84235	2.270000	0.75569	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	1	0	1	81	356	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	80	349	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP18	93663	broad.mit.edu	37	6	129950516	129950516	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129950516G>A	ENST00000368149.2	-	5	856	c.768C>T	c.(766-768)ggC>ggT	p.G256G		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18			18					TGGCATCATCGCCTTTGCTCT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000368149.2	1	1	hg19	CCDS34535.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	1	0	1	142	525	0	71	1	1	4	122	0	71	2		0	0	0	0	0	2	1	1	141	512	0	69	2								-20.000000	1	1	121412	1	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD3	154075	broad.mit.edu	37	6	130497140	130497140	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130497140C>T	ENST00000368134.2	-	10	1276	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000532763.1_Missense_Mutation_p.R221Q	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3			29					TTTGAGGGCTCGTTTCCATAA	0.348000																								0							SO:0001583	missense			ENST00000368134.2	1	1	hg19	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020104	0.93462	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.46819	1.0;0.99;1.0;1.0;0.86	5.69	5.69	0.88448	.	0.000000	0.52532	D	0.000073	T	0.54481	0.1861	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40813	-0.9543	10	0.19147	T	0.46	.	17.9821	0.89145	0.0:1.0:0.0:0.0	.	223	Q8N6K7	SAMD3_HUMAN	Q	223;247;223;223;221	ENSP00000357116:R223Q;ENSP00000402092:R247Q;ENSP00000403565:R223Q;ENSP00000391163:R223Q;ENSP00000436088:R221Q	ENSP00000357116:R223Q	R	-	2	0	SAMD3	130538833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.019000	0.64060	2.677000	0.91161	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	1	0	1	62	266	0	78	0	5.927386e-01	0	10	0	78	2		0	0	0	0	0	2	1	1	62	263	0	78	2								-3.052490	1	1	121404	6	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD3	154075	broad.mit.edu	37	6	130505263	130505263	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130505263C>T	ENST00000368134.2	-	9	1247	c.639G>A	c.(637-639)gaG>gaA	p.E213E	SAMD3_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E|SAMD3_ENST00000532763.1_Silent_p.E211E	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3			29					CACAGCCATCCTCATCCAGGA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000368134.2	1	1	hg19	CCDS34539.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	1	0	1	25	162	0	53	0	1.965184e-01	0	6	0	53	2		0	0	0	0	0	2	1	9.999998e-01	24	153	0	52	2								-2.971402	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998733	0.990000	1	9.900000e-01	1
TMEM200A	114801	broad.mit.edu	37	6	130762475	130762475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130762475C>A	ENST00000296978.3	+	3	1779	c.908C>A	c.(907-909)cCc>cAc	p.P303H	TMEM200A_ENST00000392429.1_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A			52					ATTGATGAGCCCAGTATAGAT	0.408000																								0							SO:0001583	missense			ENST00000296978.3	1	1	hg19	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400639	0.83120	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.65224	-0.6220	9	0.72032	D	0.01	-33.6773	20.3368	0.98748	0.0:1.0:0.0:0.0	.	303	Q86VY9	T200A_HUMAN	H	303	.	ENSP00000296978:P303H	P	+	2	0	TMEM200A	130804168	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	1	0	1	71	341	0	108	0	1	0	124	0	108	2		0	0	0	0	0	2	1	1	71	335	0	108	2								-3.113968	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB41L2	2037	broad.mit.edu	37	6	131190813	131190813	+	Missense_Mutation	SNP	C	C	T	rs150873575	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131190813C>T	ENST00000337057.3	-	15	2678	c.2497G>A	c.(2497-2499)Gct>Act	p.A833T	EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2			44	Breast(56;0.0639)				TGCTTAAGAGCGCCTTCGTGT	0.458000																								0							SO:0001583	missense			ENST00000337057.3	0	1	hg19	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.543|3.543	-0.093344|-0.093344	0.07053|0.07053	0.0|0.0	1.16E-4|1.16E-4	ENSG00000079819|ENSG00000079819	ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423|ENST00000456097	T;T;T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98;1.98;1.98|.	5.71|5.71	2.66|2.66	0.31614|0.31614	.|.	2.696700|.	0.01772|.	N|.	0.031234|.	T|T	0.08714|0.08714	0.0216|0.0216	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B;B|.	0.25312|.	0.123;0.002;0.001|.	B;B;B|.	0.12837|.	0.008;0.0;0.0|.	T|T	0.37220|0.37220	-0.9715|-0.9715	10|5	0.13470|.	T|.	0.59|.	.|.	8.3019|8.3019	0.32019|0.32019	0.0:0.4306:0.0:0.5694|0.0:0.4306:0.0:0.5694	.|.	230;833;211|.	E9PCC2;O43491;Q6R5J7|.	.;E41L2_HUMAN;.|.	T|H	833;230;833;763;211;763;232|375	ENSP00000338481:A833T;ENSP00000357110:A833T;ENSP00000436348:A763T;ENSP00000437207:A211T;ENSP00000436641:A763T;ENSP00000437295:A232T|.	ENSP00000257986:A230T|.	A|R	-|-	1|2	0|0	EPB41L2|EPB41L2	131232506|131232506	0.009000|0.009000	0.17119|0.17119	0.268000|0.268000	0.24571|0.24571	0.645000|0.645000	0.38454|0.38454	0.418000|0.418000	0.21230|0.21230	0.205000|0.205000	0.20568|0.20568	0.462000|0.462000	0.41574|0.41574	GCT|CGC		TCGA-IB-7651-01A-11D-2154-08	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3	0	0	0	25	1140	0	209	1	9.981291e-01	13	426	0	209	2		0	0	0	0	0	2	1	9.999997e-01	25	1103	0	209	2								-2.339473	0	1	121412	5	45	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.240000	0.160000	0.360000	0.250000	0.257824	0.240000	0	2.000000e-01	3.100000e-01
EPB41L2	2037	broad.mit.edu	37	6	131199340	131199340	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131199340A>G	ENST00000337057.3	-	14	2128	c.1947T>C	c.(1945-1947)agT>agC	p.S649S	EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2			44	Breast(56;0.0639)				GCTTGAGTTCACTAATGCTAG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000337057.3	1	1	hg19	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641157	0.29157	.	.	ENSG00000079819	ENST00000456097	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0395	0.80654	1.0:0.0:0.0:0.0	.	.	.	.	R	140	.	.	X	-	1	0	EPB41L2	131241033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.494000	0.66905	2.188000	0.69820	0.533000	0.62120	TGA		TCGA-IB-7651-01A-11D-2154-08	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3	1	0	1	64	278	0	63	1	1	12	173	0	63	2		0	0	0	0	0	2	1	1	64	274	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB41L2	2037	broad.mit.edu	37	6	131276458	131276458	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131276458C>T	ENST00000337057.3	-	3	674		c.e3-1		EPB41L2_ENST00000392427.3_Splice_Site|EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000445890.2_Splice_Site|EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2			44	Breast(56;0.0639)				ATTCAGTAGGCTGTTGAGGAA	0.358000																								0							SO:0001630	splice_region_variant			ENST00000337057.3	1	1	hg19	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951311	0.73787	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5197	0.95180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L2	131318151	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	5.014000	0.64029	2.713000	0.92767	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3	1	0	0	92	503	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	90	494	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP7	9465	broad.mit.edu	37	6	131486247	131486247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131486247G>T	ENST00000431975.2	+	4	416	c.318G>T	c.(316-318)caG>caT	p.Q106H	AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7			13	Breast(56;0.152)				AGATCCTGCAGAATGCAATAA	0.323000																								0							SO:0001583	missense			ENST00000431975.2	1	1	hg19	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398757	0.42512	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.70045	-0.45;-0.45;-0.45	5.8	0.68	0.17980	RNA ligase/cyclic nucleotide phosphodiesterase (1);Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	M	0.80746	2.51	0.36895	D	0.890105	D	0.76494	0.999	D	0.77004	0.989	T	0.72616	-0.4239	10	0.66056	D	0.02	-9.2246	8.3215	0.32132	0.6761:0.0:0.3239:0.0	.	106	Q9P0M2	AKA7G_HUMAN	H	106;105;84	ENSP00000405252:Q106H;ENSP00000441048:Q105H;ENSP00000357105:Q84H	ENSP00000357105:Q84H	Q	+	3	2	AKAP7	131527940	0.997000	0.39634	0.641000	0.29422	0.742000	0.42306	0.436000	0.21526	0.125000	0.18397	-0.295000	0.09555	CAG		TCGA-IB-7651-01A-11D-2154-08	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	1	0	1	29	146	0	56	1	8.211909e-01	2	16	0	56	2		0	0	0	0	0	2	1	1	29	143	0	56	2								-17.065320	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
AKAP7	9465	broad.mit.edu	37	6	131520710	131520710	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131520710G>A	ENST00000431975.2	+	6	797	c.699G>A	c.(697-699)aaG>aaA	p.K233K	AKAP7_ENST00000541650.1_Silent_p.K232K|AKAP7_ENST00000368123.4_Silent_p.K211K|AKAP7_ENST00000537868.1_5'Flank|AKAP7_ENST00000263050.3_5'Flank	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7			13	Breast(56;0.152)				GGCTCCGTAAGAATGTGAGTG	0.453000											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000431975.2	1	1	hg19	CCDS5142.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	1	0	0	28	248	0	57	0	6.230353e-01	1	19	0	57	2		0	0	0	0	0	2	1	1	25	245	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.800000	1.000000	1.000000	0.982282	0.990000	1	9.700000e-01	1
AKAP7	9465	broad.mit.edu	37	6	131602681	131602681	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131602681G>A	ENST00000431975.2	+	8	960	c.862G>A	c.(862-864)Gga>Aga	p.G288R	AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7			13	Breast(56;0.152)				TGAAAAGAACGGAGGGGAGCC	0.507000																								0							SO:0001583	missense			ENST00000431975.2	1	1	hg19	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859363	0.32884	.	.	ENSG00000118507	ENST00000431975;ENST00000368123;ENST00000263050;ENST00000342266;ENST00000474850	T;T	0.31769	1.48;1.48	5.8	3.01	0.34805	Protein kinase A anchor protein, RI-RII subunit-binding domain (1);	0.743893	0.13078	N	0.415487	T	0.05044	0.0135	N	0.12182	0.205	0.29526	N	0.853124	B;P;B	0.37276	0.358;0.589;0.141	B;B;B	0.30105	0.111;0.111;0.028	T	0.26292	-1.0107	10	0.30078	T	0.28	-5.9237	7.7353	0.28810	0.1489:0.1412:0.7099:0.0	.	21;44;288	Q2TAJ5;O43687;Q9P0M2	.;AKA7A_HUMAN;AKA7G_HUMAN	R	288;266;24;21;44	ENSP00000405252:G288R;ENSP00000357105:G266R	ENSP00000263050:G24R	G	+	1	0	AKAP7	131644374	0.996000	0.38824	0.915000	0.36163	0.992000	0.81027	2.395000	0.44459	0.772000	0.33382	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	1	0	1	32	193	0	58	0	7.954509e-01	0	20	0	58	2		0	0	0	0	0	2	1	1	32	186	0	55	2								-2.781130	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999803	0.990000	1	9.900000e-01	1
MED23	9439	broad.mit.edu	37	6	131919805	131919805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131919805C>T	ENST00000368068.3	-	19	2496	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K|MED23_ENST00000403834.3_Missense_Mutation_p.E779K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K|MED23_ENST00000368060.3_Missense_Mutation_p.E773K|MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23			44	Breast(56;0.0753)				ATGTCGTTTTCGTTGCTCATT	0.393000																								0							SO:0001583	missense			ENST00000368068.3	1	1	hg19	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590256	0.96590	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.80764	0.993;0.956;0.994;0.99	D	0.84986	0.0891	10	0.49607	T	0.09	-0.1527	20.8794	0.99867	0.0:1.0:0.0:0.0	.	414;779;773;779	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	K	779;773;779;773;779;414;779;779	ENSP00000346588:E779K;ENSP00000357047:E773K;ENSP00000384536:E779K;ENSP00000357039:E773K;ENSP00000357037:E779K;ENSP00000439977:E414K;ENSP00000357032:E779K;ENSP00000437818:E779K	ENSP00000346588:E779K	E	-	1	0	MED23	131961498	1.000000	0.71417	0.991000	0.47740	0.900000	0.52787	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1	1	0	1	69	322	0	53	1	9.999809e-01	4	72	0	53	2		0	0	0	0	0	2	1	1	69	321	0	53	2								-20.000000	1	1	121412	2	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED23	9439	broad.mit.edu	37	6	131923466	131923466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131923466G>A	ENST00000368068.3	-	17	2166	c.1987C>T	c.(1987-1989)Ccg>Tcg	p.P663S	MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000368058.1_Missense_Mutation_p.P669S|MED23_ENST00000403834.3_Missense_Mutation_p.P669S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S|MED23_ENST00000368060.3_Missense_Mutation_p.P663S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23			44	Breast(56;0.0753)				GTAAACTGCGGTTGTACCTCT	0.418000																								0							SO:0001583	missense			ENST00000368068.3	1	1	hg19	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904542	0.72868	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.985;0.981	P;D;P;P	0.75484	0.863;0.986;0.817;0.721	T	0.81833	-0.0751	10	0.48119	T	0.1	-5.0311	19.8316	0.96638	0.0:0.0:1.0:0.0	.	304;669;663;669	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	S	669;663;669;663;52;669;304;669;669	ENSP00000346588:P669S;ENSP00000357047:P663S;ENSP00000384536:P669S;ENSP00000357039:P663S;ENSP00000357037:P669S;ENSP00000439977:P304S;ENSP00000357032:P669S;ENSP00000437818:P669S	ENSP00000346588:P669S	P	-	1	0	MED23	131965159	1.000000	0.71417	0.999000	0.59377	0.358000	0.29455	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1	1	0	1	32	296	0	65	1	9.766466e-01	6	52	0	65	2		0	0	0	0	0	2	1	1	32	294	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.790000	1.000000	1.000000	0.978191	0.990000	1	9.500000e-01	1
MED23	9439	broad.mit.edu	37	6	131931290	131931290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131931290C>A	ENST00000368068.3	-	11	1152	c.973G>T	c.(973-975)Gga>Tga	p.G325*	MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*|MED23_ENST00000403834.3_Nonsense_Mutation_p.G331*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*|MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23			44	Breast(56;0.0753)				TGGCTTGTTCCCCCATCGTCA	0.498000																								0							SO:0001587	stop_gained			ENST00000368068.3	0	1	hg19	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420626	0.96111	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.4066	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	331;325;331;325;331;14;331;331;325	.	ENSP00000346588:G331X	G	-	1	0	MED23	131972983	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.730000	0.93505	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1	1	0	1	67	350	0	112	0	9.238163e-01	0	25	0	112	2		0	0	0	0	0	2	1	1	63	342	0	112	2								-2.885674	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPP3	5169	broad.mit.edu	37	6	131997935	131997935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131997935C>T	ENST00000414305.1	+	11	1260	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3			53	Breast(56;0.0753)				CTGCCCAAAGCTGAAAGGTAA	0.318000																								0							SO:0001583	missense			ENST00000414305.1	1	1	hg19	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703247	0.68501	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75477	-0.94;-0.94;-0.94	4.84	3.95	0.45737	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.741475	0.12195	N	0.490799	T	0.62441	0.2428	M	0.64676	1.99	0.80722	D	1	P	0.38335	0.627	B	0.41135	0.348	T	0.60826	-0.7186	10	0.34782	T	0.22	-5.1856	11.5456	0.50693	0.3241:0.6759:0.0:0.0	.	311	O14638	ENPP3_HUMAN	V	311	ENSP00000406261:A311V;ENSP00000350265:A311V;ENSP00000350964:A311V	ENSP00000350265:A311V	A	+	2	0	ENPP3	132039628	0.008000	0.16893	1.000000	0.80357	0.950000	0.60333	0.198000	0.17217	1.127000	0.42034	0.549000	0.68633	GCT		TCGA-IB-7651-01A-11D-2154-08	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2	1	0	1	51	222	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1	51	211	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPP3	5169	broad.mit.edu	37	6	132043409	132043409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132043409G>A	ENST00000414305.1	+	19	1938	c.1610G>A	c.(1609-1611)gGt>gAt	p.G537D	ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D|ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3			53	Breast(56;0.0753)				GGAACCCATGGTAGTTTAAAC	0.408000																								0							SO:0001583	missense			ENST00000414305.1	1	1	hg19	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842462	0.91197	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.76839	-0.98;-0.98;-1.05	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	D	0.85465	0.5703	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85201	0.1015	10	0.87932	D	0	-22.0949	20.1581	0.98126	0.0:0.0:1.0:0.0	.	537	O14638	ENPP3_HUMAN	D	537	ENSP00000406261:G537D;ENSP00000350265:G537D;ENSP00000350964:G537D	ENSP00000350265:G537D	G	+	2	0	ENPP3	132085102	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	7.942000	0.87708	2.937000	0.99478	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2	1	0	1	74	295	0	67	0	1.849318e-01	0	4	0	67	2		0	0	0	0	0	2	1	1	73	288	0	66	2								-20.000000	1	1	121406	1	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHACTR1	221692	broad.mit.edu	37	6	13206049	13206049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206049C>T	ENST00000379350.1	+	7	796	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1			26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		TGCCACAGATCCTGGCGCCCC	0.562000																								0							SO:0001583	missense			ENST00000379350.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	2.219	-0.378753	0.05000	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.30182	1.54;1.57;1.64	5.05	5.05	0.67936	.	0.186728	0.49916	D	0.000121	T	0.06371	0.0164	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.25719	0.132;0.02;0.035	B;B;B	0.22152	0.038;0.006;0.023	T	0.18461	-1.0336	10	0.25751	T	0.34	-7.4043	11.0496	0.47878	0.0:0.9158:0.0:0.0842	.	292;223;223	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	S	223;223;292;78	ENSP00000368655:P223S;ENSP00000329880:P223S;ENSP00000397669:P78S	ENSP00000329880:P223S	P	+	1	0	PHACTR1	13314028	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.245000	0.43133	2.607000	0.88179	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	1	0	1	55	213	0	47	0	3.626656e-01	1	5	0	47	2		0	0	0	0	0	2	1	1	53	209	0	47	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STX7	8417	broad.mit.edu	37	6	132785210	132785210	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132785210G>A	ENST00000367941.2	-	9	728	c.615C>T	c.(613-615)agC>agT	p.S205S	STX7_ENST00000367937.4_Silent_p.S205S	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7			19	Breast(56;0.0615)				TGGCTTCTATGCTATCTGTAA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000367941.2	1	1	hg19	CCDS5153.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2	1	0	0	83	459	0	96	1	1	65	231	0	96	2		0	0	0	0	0	2	1	1	75	442	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STX7	8417	broad.mit.edu	37	6	132792628	132792628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132792628G>A	ENST00000367941.2	-	5	474	c.361C>T	c.(361-363)Cga>Tga	p.R121*	STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7			19	Breast(56;0.0615)				GCTCTTACTCGAGCAACAAAC	0.428000																								0							SO:0001587	stop_gained			ENST00000367941.2	0	1	hg19	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	36	5.875587	0.97055	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	.	.	.	5.93	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5279	7.0116	0.24865	0.0891:0.0:0.5468:0.3641	.	.	.	.	X	121;121;76;121	.	ENSP00000309600:R76X	R	-	1	2	STX7	132834321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.256000	0.51492	1.516000	0.48900	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2	0	0	0	15	546	0	131	0	9.939375e-01	1	304	0	131	2		0	0	0	0	0	2	1	9.998664e-01	15	542	0	130	2								-2.196607	0	1	121412	1	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.310000	0.180000	0.490000	0.300000	0.327279	0.310000	0	2.400000e-01	4.000000e-01
TAAR8	83551	broad.mit.edu	37	6	132873992	132873992	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132873992C>T	ENST00000275200.1	+	1	161	c.161C>T	c.(160-162)aCt>aTt	p.T54I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8			22	Breast(56;0.112)				TTAGTAATGACTTCTGTTCTT	0.448000																								0							SO:0001583	missense			ENST00000275200.1	1	1	hg19	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.521401	0.00967	.	.	ENSG00000146385	ENST00000275200	T	0.35048	1.33	4.72	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	0.762462	0.11154	N	0.593777	T	0.02494	0.0076	N	0.01003	-1.06	0.20307	N	0.999914	B	0.02656	0.0	B	0.11329	0.006	T	0.47032	-0.9148	10	0.02654	T	1	-2.5206	10.2876	0.43577	0.0:0.1991:0.0:0.8009	.	54	Q969N4	TAAR8_HUMAN	I	54	ENSP00000275200:T54I	ENSP00000275200:T54I	T	+	2	0	TAAR8	132915685	0.000000	0.05858	0.037000	0.18230	0.579000	0.36224	-0.075000	0.11431	-0.328000	0.08539	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	1	0	1	193	925	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1	189	910	0	175	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAAR8	83551	broad.mit.edu	37	6	132874819	132874819	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132874819T>A	ENST00000275200.1	+	1	988	c.988T>A	c.(988-990)Tta>Ata	p.L330I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8			22	Breast(56;0.112)				TGGAGATGTTTTAAAGGCTAG	0.264000																								0							SO:0001583	missense			ENST00000275200.1	1	1	hg19	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	T	9.335	1.061570	0.19987	.	.	ENSG00000146385	ENST00000275200	T	0.70045	-0.45	4.3	1.76	0.24704	.	0.460485	0.17385	N	0.176156	T	0.60431	0.2268	M	0.79805	2.47	0.19945	N	0.999946	P	0.44521	0.837	P	0.49597	0.616	T	0.56251	-0.8010	10	0.66056	D	0.02	-0.0166	8.9788	0.35953	0.0:0.1568:0.0:0.8432	.	330	Q969N4	TAAR8_HUMAN	I	330	ENSP00000275200:L330I	ENSP00000275200:L330I	L	+	1	2	TAAR8	132916512	0.022000	0.18835	0.003000	0.11579	0.151000	0.21798	0.819000	0.27308	0.254000	0.21573	0.459000	0.35465	TTA		TCGA-IB-7651-01A-11D-2154-08	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	1	0	0	71	320	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	70	312	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAAR6	319100	broad.mit.edu	37	6	132891977	132891977	+	Missense_Mutation	SNP	T	T	C	rs41298397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132891977T>C	ENST00000275198.1	+	1	517	c.517T>C	c.(517-519)Tat>Cat	p.Y173H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6			41	Breast(56;0.112)				CACAGGTGTCTATGACGATGG	0.468000																								0							SO:0001583	missense			ENST00000275198.1	1	0	hg19	CCDS5155.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	T	11.58	1.679701	0.29783	0.001816	0.00407	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.72505	-0.66	5.11	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.286909	0.20600	N	0.089177	T	0.21227	0.0511	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.19224	-1.0312	10	0.27082	T	0.32	-2.0739	1.253	0.01986	0.4799:0.179:0.1013:0.2398	rs41298397	173	Q96RI8	TAAR6_HUMAN	H	173;156	ENSP00000275198:Y173H	ENSP00000275198:Y173H	Y	+	1	0	TAAR6	132933670	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.098000	0.11024	0.076000	0.16826	0.528000	0.53228	TAT		TCGA-IB-7651-01A-11D-2154-08	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	0	0	1	205	821	0	210		0	0	0	0	210	2		0	0	0	0	0	2	1	1	203	811	0	207	2								-2.438358	0	1	121412	314	62	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAAR6	319100	broad.mit.edu	37	6	132892109	132892109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132892109T>C	ENST00000275198.1	+	1	649	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6			41	Breast(56;0.112)				GATAATTCTGTATGGTAACAT	0.383000																								0							SO:0001583	missense			ENST00000275198.1	1	1	hg19	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650421	0.47362	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.60424	0.19	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.78310	0.4263	H	0.94582	3.555	0.42362	D	0.992412	D	0.53151	0.958	D	0.65987	0.94	D	0.85036	0.0920	10	0.87932	D	0	-12.3275	15.0602	0.71947	0.0:0.0:0.0:1.0	.	217	Q96RI8	TAAR6_HUMAN	H	217;200	ENSP00000275198:Y217H	ENSP00000275198:Y217H	Y	+	1	0	TAAR6	132933802	1.000000	0.71417	0.015000	0.15790	0.228000	0.25075	4.912000	0.63335	2.132000	0.65825	0.528000	0.53228	TAT		TCGA-IB-7651-01A-11D-2154-08	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	1	0	1	63	252	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	64	252	0	58	2								-20.000000	1	1	121404	1	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAAR5	9038	broad.mit.edu	37	6	132909876	132909876	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132909876T>G	ENST00000258034.2	-	1	1001	c.950A>C	c.(949-951)aAa>aCa	p.K317T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5			32	Breast(56;0.112)				CAGTGTGAGTTTCAGTGCCTT	0.468000																								0							SO:0001583	missense			ENST00000258034.2	1	1	hg19	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.661767	0.29515	.	.	ENSG00000135569	ENST00000258034	T	0.42131	0.98	5.47	3.01	0.34805	.	0.075082	0.52532	D	0.000079	T	0.56863	0.2014	M	0.88512	2.96	0.38733	D	0.953723	D	0.71674	0.998	D	0.69479	0.964	T	0.66126	-0.6001	10	0.87932	D	0	-5.2115	11.3667	0.49677	0.0:0.0:0.2901:0.7099	.	317	O14804	TAAR5_HUMAN	T	317	ENSP00000258034:K317T	ENSP00000258034:K317T	K	-	2	0	TAAR5	132951569	0.001000	0.12720	0.981000	0.43875	0.025000	0.11179	0.066000	0.14489	0.472000	0.27344	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	1	0	1	70	238	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	69	234	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAAR5	9038	broad.mit.edu	37	6	132910426	132910426	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132910426A>C	ENST00000258034.2	-	1	451	c.400T>G	c.(400-402)Tgt>Ggt	p.C134G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5			32	Breast(56;0.112)				CAGATGGCACAGTGGCGGTCA	0.577000																								0							SO:0001583	missense			ENST00000258034.2	1	1	hg19	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	A	6.745	0.506179	0.12883	.	.	ENSG00000135569	ENST00000258034	T	0.37411	1.2	5.58	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.076401	0.56097	D	0.000036	T	0.25606	0.0623	L	0.58583	1.82	0.20307	N	0.999915	P	0.38978	0.652	P	0.47915	0.561	T	0.10109	-1.0644	10	0.41790	T	0.15	-3.3848	10.982	0.47499	0.6456:0.0:0.0:0.3544	.	134	O14804	TAAR5_HUMAN	G	134	ENSP00000258034:C134G	ENSP00000258034:C134G	C	-	1	0	TAAR5	132952119	0.000000	0.05858	0.988000	0.46212	0.987000	0.75469	0.001000	0.13038	0.506000	0.28125	0.533000	0.62120	TGT		TCGA-IB-7651-01A-11D-2154-08	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	0	0	0	12	405	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	9.990074e-01	12	395	0	87	2								-11.610360	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.340000	0.180000	0.550000	0.330000	0.356141	0.340000	0	2.500000e-01	4.500000e-01
TAAR2	9287	broad.mit.edu	37	6	132939158	132939158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132939158C>T	ENST00000367931.1	-	2	186	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T|TAAR2_ENST00000275191.2_Missense_Mutation_p.A18T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2			23	Breast(56;0.135)				ATTATCATGGCAAGATTGCCA	0.423000																								0							SO:0001583	missense			ENST00000367931.1	1	1	hg19	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398649	0.42512	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.71934	-0.61;-0.61;-0.61	5.7	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.422419	0.24506	N	0.037938	T	0.34077	0.0885	N	0.21545	0.675	0.24232	N	0.995398	B	0.17465	0.022	B	0.20955	0.032	T	0.28004	-1.0057	10	0.66056	D	0.02	-11.0516	6.0328	0.19688	0.129:0.6458:0.0:0.2252	.	63	Q9P1P5	TAAR2_HUMAN	T	18;63;18	ENSP00000275191:A18T;ENSP00000356908:A63T;ENSP00000441263:A18T	ENSP00000275191:A18T	A	-	1	0	TAAR2	132980851	0.000000	0.05858	0.771000	0.31576	0.994000	0.84299	-0.038000	0.12144	0.769000	0.33313	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	0	0	1	92	362	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	92	353	1	82	18								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAAR1	134864	broad.mit.edu	37	6	132966836	132966836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132966836C>T	ENST00000275216.1	-	1	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	p.D103N(1)		18	Breast(56;0.135)			Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	AGCATAATGTCGGTGCTTGTG	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000275216.1	1	1	hg19	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985590	0.93044	.	.	ENSG00000146399	ENST00000275216	T	0.19394	2.15	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.050966	0.85682	D	0.000000	T	0.49626	0.1568	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54853	-0.8231	10	0.72032	D	0.01	-15.6269	20.3396	0.98756	0.0:1.0:0.0:0.0	.	103	Q96RJ0	TAAR1_HUMAN	N	103	ENSP00000275216:D103N	ENSP00000275216:D103N	D	-	1	0	TAAR1	133008529	0.999000	0.42202	0.609000	0.28983	0.915000	0.54546	4.671000	0.61590	2.812000	0.96745	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	1	0	1	51	260	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1	51	253	0	59	2								-20.000000	1	1	121404	1	28	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VNN1	8876	broad.mit.edu	37	6	133004445	133004445	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133004445C>T	ENST00000367928.4	-	7	1389	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	p.R459H(1)		31	Breast(56;0.135)				ACTAAACAAGCGTCCGTCAGT	0.398000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367928.4	1	1	hg19	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866004	0.51588	.	.	ENSG00000112299	ENST00000367928	D	0.93247	-3.19	5.86	4.99	0.66335	.	0.074910	0.64402	D	0.000020	D	0.88596	0.6479	M	0.85630	2.765	0.46396	D	0.999022	P	0.42993	0.797	B	0.34779	0.189	D	0.88288	0.2941	10	0.15952	T	0.53	-14.1688	14.725	0.69339	0.0:0.931:0.0:0.069	.	459	O95497	VNN1_HUMAN	H	459	ENSP00000356905:R459H	ENSP00000356905:R459H	R	-	2	0	VNN1	133046138	0.939000	0.31865	0.653000	0.29593	0.862000	0.49288	2.266000	0.43320	1.484000	0.48361	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1	1	0	1	44	150	0	42	1	1	422	228	0	42	2		0	0	0	0	0	2	1	1	44	149	0	42	2								-20.000000	1	1	121406	2	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D7	51256	broad.mit.edu	37	6	13316855	13316855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13316855C>T	ENST00000379300.3	-	5	710	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R129Q|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R129Q	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7			22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		CACAAAGCGTCGGGTGATCCA	0.428000																								0							SO:0001583	missense			ENST00000379300.3	1	1	hg19	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211334	0.79240	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109	T;T;T;T;T;T;T;T;T;T	0.33438	1.54;2.8;2.8;2.8;2.8;2.8;2.8;2.8;1.54;1.41	5.92	5.05	0.67936	Rab-GAP/TBC domain (2);	0.156362	0.56097	D	0.000034	T	0.19005	0.0456	M	0.62723	1.935	0.80722	D	1	P;P;P	0.48230	0.873;0.792;0.907	B;B;B	0.40782	0.34;0.156;0.217	T	0.02713	-1.1120	10	0.28530	T	0.3	-2.6382	14.2193	0.65815	0.0:0.929:0.0:0.071	.	129;129;156	Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;TBCD7_HUMAN	Q	97;156;156;156;129;129;129;156;129;129;156	ENSP00000401438:R156Q;ENSP00000348813:R156Q;ENSP00000368602:R156Q;ENSP00000368609:R129Q;ENSP00000414292:R129Q;ENSP00000404680:R129Q;ENSP00000394425:R156Q;ENSP00000417005:R129Q;ENSP00000412102:R129Q;ENSP00000414101:R156Q	ENSP00000334212:R97Q	R	-	2	0	TBC1D7	13424834	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	3.062000	0.49971	1.528000	0.49103	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	0	0	0	47	907	1	185	1	7.814789e-01	6	102	1	185	4		0	0	0	0	0	2	1	9.999115e-01	47	884	1	182	18								-5.574635	1	1	121412	3	42	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.560000	0.420000	0.730000	0.570000	0.578391	0.560000	0	4.900000e-01	6.600000e-01
GFOD1	54438	broad.mit.edu	37	6	13365177	13365177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13365177C>T	ENST00000379287.3	-	2	1635	c.971G>A	c.(970-972)cGc>cAc	p.R324H	GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1			18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		ATCCCACGTGCGCCGGTCGTC	0.672000																								0							SO:0001583	missense			ENST00000379287.3	1	1	hg19	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427283	0.96131	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.48836	1.41;0.8	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.40739	-0.9547	10	0.23891	T	0.37	-11.6292	18.5979	0.91235	0.0:1.0:0.0:0.0	.	324	Q9NXC2	GFOD1_HUMAN	H	324;221	ENSP00000368589:R324H;ENSP00000368586:R221H	ENSP00000368586:R221H	R	-	2	0	GFOD1	13473156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.622000	0.88805	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	1	0	1	83	281	0	50	0	7.029388e-01	1	9	0	50	2		0	0	0	0	0	2	1	1	80	277	0	50	2								-4.382429	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EYA4	2070	broad.mit.edu	37	6	133836487	133836487	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133836487C>T	ENST00000367895.5	+	17	1994	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A	EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000355167.3_Silent_p.A510A|EYA4_ENST00000430974.2_Silent_p.A462A|EYA4_ENST00000531901.1_Silent_p.A516A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000525849.1_Silent_p.A487A|EYA4_ENST00000355286.6_Silent_p.A487A|EYA4_ENST00000431403.2_Silent_p.A510A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4			48	Colorectal(23;0.221)				AGAGGGATGCCTGGCTACAGT	0.428000													Melanoma(57;398 1237 3528 4702 7415)											0							SO:0001819	synonymous_variant			ENST00000367895.5	1	1	hg19	CCDS5165.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	1	0	1	95	417	0	148	0	0	0	1	0	148	2		0	0	0	0	0	2	1	1	93	412	0	145	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EYA4	2070	broad.mit.edu	37	6	133844298	133844298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133844298A>G	ENST00000367895.5	+	18	2185	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C	EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4			48	Colorectal(23;0.221)				GAGAATATTTACAGTGCAACT	0.388000													Melanoma(57;398 1237 3528 4702 7415)											0							SO:0001583	missense			ENST00000367895.5	1	1	hg19	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390054	0.82902	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.97553	-4.43;-4.19;-4.31;-4.43;-4.27;-4.43;-4.43;-4.43	6.16	6.16	0.99307	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99741	1.1015	10	0.87932	D	0	-11.9122	16.8061	0.85666	1.0:0.0:0.0:0.0	.	580;526;520;551;574;574	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	C	520;526;574;574;551;580;551;574	ENSP00000395916:Y520C;ENSP00000388670:Y526C;ENSP00000356870:Y574C;ENSP00000347294:Y574C;ENSP00000347434:Y551C;ENSP00000432770:Y580C;ENSP00000433219:Y551C;ENSP00000404558:Y574C	ENSP00000347294:Y574C	Y	+	2	0	EYA4	133885991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	1	0	1	104	462	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	103	455	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC2A12	154091	broad.mit.edu	37	6	134350298	134350298	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134350298C>T	ENST00000275230.5	-	2	820	c.665G>A	c.(664-666)cGg>cAg	p.R222Q		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12			17	Breast(56;0.214)|Colorectal(23;0.221)				CACCAGAAACCGAGGGCTTGG	0.448000													Melanoma(122;1663 1672 14489 35294 41228)											0							SO:0001583	missense			ENST00000275230.5	0	1	hg19	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720699	0.89205	.	.	ENSG00000146411	ENST00000275230	T	0.79653	-1.29	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93615	0.6942	10	0.87932	D	0	-14.6014	19.174	0.93594	0.0:1.0:0.0:0.0	.	222	Q8TD20	GTR12_HUMAN	Q	222	ENSP00000275230:R222Q	ENSP00000275230:R222Q	R	-	2	0	SLC2A12	134391991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.542000	0.85734	0.467000	0.42956	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1	0	0	0	8	446	0	115	0	2.509103e-03	1	3	0	115	2		0	0	0	0	0	2	1	9.882878e-01	8	434	0	115	2								-2.668974	1	1	121410	2	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.210000	0.090000	0.380000	0.200000	0.226788	0.210000	0	1.400000e-01	3.000000e-01
SGK1	6446	broad.mit.edu	37	6	134583014	134583014	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134583014A>C	ENST00000524929.1	-	2	510	c.342T>G	c.(340-342)ttT>ttG	p.F114L	SGK1_ENST00000367858.5_Intron			O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1			46	Colorectal(23;0.221)				AAATACAAGAAAAACAAAGGC	0.368000																								0							SO:0001583	missense			ENST00000524929.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	9.863	1.196860	0.22037	.	.	ENSG00000118515	ENST00000524929	.	.	.	5.23	4.08	0.47627	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.22208	-1.0223	7	0.87932	D	0	.	4.4911	0.11813	0.7393:0.0:0.0899:0.1708	.	114	Q7Z3I4	.	L	114	.	ENSP00000435724:F114L	F	-	3	2	SGK1	134624707	0.018000	0.18449	0.024000	0.17045	0.323000	0.28346	0.665000	0.25083	1.011000	0.39340	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	SGK1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000042305.2	0	0	0	43	130	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1	38	129	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDH8A1	64577	broad.mit.edu	37	6	135263570	135263570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135263570G>A	ENST00000265605.2	-	3	487	c.419C>T	c.(418-420)aCg>aTg	p.T140M	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	p.T140M(1)		36	Colorectal(23;0.221)				GGCCCGCACCGTGTAGTGCAT	0.582000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000265605.2	1	1	hg19	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506159	0.85282	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.78126	-1.15;-1.15;1.48	5.32	5.32	0.75619	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.982;0.99	D	0.86419	0.1753	10	0.87932	D	0	.	19.0055	0.92849	0.0:0.0:1.0:0.0	.	140;140;140	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	140	ENSP00000265605:T140M;ENSP00000356819:T140M;ENSP00000356821:T140M	ENSP00000265605:T140M	T	-	2	0	ALDH8A1	135305263	1.000000	0.71417	0.939000	0.37840	0.459000	0.32528	9.807000	0.99171	2.472000	0.83506	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2	0	0	0	9	310	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	9.939693e-01	9	305	0	68	2								-3.383509	1	1	121412	3	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.330000	0.160000	0.580000	0.320000	0.356198	0.330000	0	2.400000e-01	4.600000e-01
HBS1L	10767	broad.mit.edu	37	6	135287592	135287592	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135287592T>G	ENST00000367837.5	-	17	2124	c.1918A>C	c.(1918-1920)Aat>Cat	p.N640H	HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H|HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase			20	Colorectal(23;0.221)				ACCAATGCATTCTGGCCTTTA	0.328000																								0							SO:0001583	missense			ENST00000367837.5	1	1	hg19	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476985	0.84640	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.65178	-0.14;-0.12;-0.11;-0.13;-0.12;-0.13;0.9	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.76615	-0.2894	10	0.66056	D	0.02	-32.104	16.4277	0.83824	0.0:0.0:0.0:1.0	.	598;640	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	H	640;476;575;598;476;510;364	ENSP00000356811:N640H;ENSP00000436256:N476H;ENSP00000389826:N575H;ENSP00000356800:N598H;ENSP00000356798:N476H;ENSP00000434533:N510H;ENSP00000415305:N364H	ENSP00000356798:N476H	N	-	1	0	HBS1L	135329285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2	1	0	1	91	404	0	101	1	1	48	80	0	101	2		0	0	0	0	0	2	1	1	88	400	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HBS1L	10767	broad.mit.edu	37	6	135306532	135306532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135306532G>T	ENST00000367837.5	-	12	1645	c.1439C>A	c.(1438-1440)cCc>cAc	p.P480H	HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H|HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H|HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase			20	Colorectal(23;0.221)				AGATCGCTGGGGAGGCTTAAA	0.353000																								0							SO:0001583	missense			ENST00000367837.5	1	1	hg19	CCDS5173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776545|4.776545	0.90195|0.90195	.|.	.|.	ENSG00000112339|ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176|ENST00000529169	T;T;T;T;T;T;T|T	0.53423|0.52526	0.62;0.62;0.62;0.62;0.62;0.62;0.62|0.66	5.79|5.79	5.79|5.79	0.91817|0.91817	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77980|0.77980	0.4212|0.4212	H|H	0.96111|0.96111	3.77|3.77	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84490|0.84490	0.0610|0.0610	10|8	0.87932|0.87932	D|D	0|0	-26.0245|-26.0245	20.0371|20.0371	0.97565|0.97565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	438;480|.	Q9Y450-4;Q9Y450|.	.;HBS1L_HUMAN|.	H|T	480;316;415;438;316;350;204|104	ENSP00000356811:P480H;ENSP00000436256:P316H;ENSP00000389826:P415H;ENSP00000356800:P438H;ENSP00000356798:P316H;ENSP00000434533:P350H;ENSP00000415305:P204H|ENSP00000436472:P104T	ENSP00000356798:P316H|ENSP00000436472:P104T	P|P	-|-	2|1	0|0	HBS1L|HBS1L	135348225|135348225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.190000|7.190000	0.77755|0.77755	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	CCC|CCC		TCGA-IB-7651-01A-11D-2154-08	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2	0	0	0	22	622	1	133	1	3.237458e-01	9	121	1	133	6		0	0	0	0	0	2	1	8.161328e-01	22	608	1	133	17								-3.071031	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.390000	0.250000	0.580000	0.390000	0.410514	0.390000	0	3.200000e-01	4.900000e-01
HBS1L	10767	broad.mit.edu	37	6	135317999	135317999	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135317999T>A	ENST00000367837.5	-	7	1087	c.881A>T	c.(880-882)aAg>aTg	p.K294M	HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M|HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase			20	Colorectal(23;0.221)				CTGTTCATACTTATGCATAGT	0.388000																								0							SO:0001583	missense			ENST00000367837.5	1	1	hg19	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	32	5.111168	0.94339	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641;ENST00000527507	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.95	5.95	0.96441	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90160	0.4227	10	0.87932	D	0	-23.4431	16.4288	0.83833	0.0:0.0:0.0:1.0	.	252;294	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	M	294;130;229;252;130;164;18;130;130	ENSP00000356811:K294M;ENSP00000436256:K130M;ENSP00000389826:K229M;ENSP00000356800:K252M;ENSP00000356798:K130M;ENSP00000434533:K164M;ENSP00000415305:K18M;ENSP00000436620:K130M;ENSP00000432092:K130M	ENSP00000356798:K130M	K	-	2	0	HBS1L	135359692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.282000	0.76494	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2	1	0	1	171	666	0	157	1	9.999999e-01	27	64	0	157	2		0	0	0	0	0	2	1	1	169	653	0	157	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AHI1	54806	broad.mit.edu	37	6	135763781	135763781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135763781G>T	ENST00000367800.4	-	12	2067	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	AHI1_ENST00000417892.2_5'UTR|AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000457866.2_Missense_Mutation_p.F617L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1			37	Breast(56;0.239)|Colorectal(23;0.24)				CATTGTGGGAGAAATCAAGAC	0.378000																								0							SO:0001583	missense			ENST00000367800.4	1	1	hg19	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.356206|4.356206	0.82243|0.82243	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T|.	0.70986|.	-0.53;-0.53;-0.53;-0.53|.	5.96|5.96	5.1|5.1	0.69264|0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61788|0.61788	0.2375|0.2375	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.997;0.998;0.996|.	T|T	0.63184|0.63184	-0.6694|-0.6694	10|5	0.72032|.	D|.	0.01|.	-10.329|-10.329	14.8195|14.8195	0.70062|0.70062	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	617;617;617|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	L|Y	617|117	ENSP00000356774:F617L;ENSP00000388650:F617L;ENSP00000265602:F617L;ENSP00000322478:F617L|.	ENSP00000265602:F617L|.	F|S	-|-	3|2	2|0	AHI1|AHI1	135805474|135805474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.705000|3.705000	0.54823|0.54823	1.536000|1.536000	0.49237|0.49237	-0.136000|-0.136000	0.14681|0.14681	TTC|TCT		TCGA-IB-7651-01A-11D-2154-08	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	1	0	1	16	50	0	23	1	9.921673e-01	7	22	0	23	2		0	0	0	0	0	2	1	9.999667e-01	16	49	0	23	2								-14.302600	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
AHI1	54806	broad.mit.edu	37	6	135778797	135778797	+	Missense_Mutation	SNP	C	C	T	rs139944375	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135778797C>T	ENST00000367800.4	-	7	1202	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1			37	Breast(56;0.239)|Colorectal(23;0.24)				CGGGCTATCTCGGCTTGTTAT	0.358000																								0							SO:0001583	missense			ENST00000367800.4	1	1	hg19	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801309	0.31869	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.57752	0.43;0.43;0.43;0.38	5.5	-3.68	0.04463	.	1.206670	0.05757	N	0.604317	T	0.20292	0.0488	L	0.60455	1.87	0.24048	N	0.996058	B;B	0.20261	0.043;0.026	B;B	0.12837	0.008;0.002	T	0.18335	-1.0340	10	0.32370	T	0.25	-0.1692	2.7604	0.05305	0.1077:0.226:0.1783:0.488	.	329;329	Q8N157-2;Q8N157	.;AHI1_HUMAN	Q	329	ENSP00000356774:R329Q;ENSP00000388650:R329Q;ENSP00000265602:R329Q;ENSP00000322478:R329Q	ENSP00000265602:R329Q	R	-	2	0	AHI1	135820490	0.693000	0.27728	0.826000	0.32828	0.433000	0.31745	-0.024000	0.12435	-0.422000	0.07405	0.460000	0.39030	CGA		TCGA-IB-7651-01A-11D-2154-08	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	1	0	1	95	418	0	115	1	9.743897e-01	5	23	0	115	2		0	0	0	0	0	2	1	1	93	410	0	114	2								-3.325103	1	1	120846	25	50	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE7B	27115	broad.mit.edu	37	6	136512832	136512832	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136512832C>A	ENST00000308191.6	+	13	1510	c.1207C>A	c.(1207-1209)Ctg>Atg	p.L403M	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B			21	Colorectal(23;0.24)			Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GGAGAACATGCTGGGCCACCT	0.612000																								0							SO:0001583	missense			ENST00000308191.6	1	1	hg19	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	C	8.880	0.951377	0.18431	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.79247	-1.25	5.17	4.28	0.50868	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.136413	0.50627	D	0.000107	T	0.64713	0.2623	N	0.25094	0.71	0.50467	D	0.999878	P;P	0.50617	0.937;0.669	B;P	0.54238	0.335;0.746	T	0.64198	-0.6464	10	0.31617	T	0.26	.	10.5121	0.44868	0.0:0.8508:0.0:0.1492	.	455;403	A1E5M1;Q9NP56	.;PDE7B_HUMAN	M	403;539	ENSP00000310661:L403M	ENSP00000310661:L403M	L	+	1	2	PDE7B	136554525	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	0.687000	0.25407	2.569000	0.86673	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1	1	0	0	12	122	0	23	0	7.822020e-02	0	5	0	23	2		0	0	0	0	0	2	1	9.991887e-01	11	121	0	22	2								-17.879220	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.580000	1.000000	1.000000	0.921738	0.990000	1	7.800000e-01	1
BCLAF1	9774	broad.mit.edu	37	6	136590614	136590614	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136590614G>A	ENST00000531224.1	-	9	2432	c.2180C>T	c.(2179-2181)cCa>cTa	p.P727L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1			9	Colorectal(23;0.24)				GTAATCTTTTGGAGTTTTTTC	0.383000													Colon(142;1534 1789 5427 7063 28491)											0							SO:0001583	missense			ENST00000531224.1	1	1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814670	0.32053	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.14640	4.35;4.35;4.35;2.49;4.35;4.35	4.82	3.89	0.44902	.	0.582086	0.15264	N	0.271612	T	0.04543	0.0124	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.21905	0.027;0.062;0.027;0.004	B;B;B;B	0.16289	0.006;0.015;0.006;0.006	T	0.16988	-1.0384	10	0.56958	D	0.05	0.3182	12.8904	0.58068	0.0:0.0:0.7217:0.2783	.	725;725;727;554	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	727;725;727;554;725;725	ENSP00000435210:P727L;ENSP00000229446:P725L;ENSP00000435441:P727L;ENSP00000436501:P554L;ENSP00000434826:P725L;ENSP00000376159:P725L	ENSP00000229446:P725L	P	-	2	0	BCLAF1	136632307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.059000	0.57470	2.393000	0.81446	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	1	0	0	21	387	0	82	0	9.990834e-01	0	206	0	82	2		0	0	0	0	0	2	1	9.999959e-01	19	366	0	78	2								-2.541387	1	1	121404	31	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.600000	0.380000	0.870000	0.600000	0.615532	0.600000	0	4.800000e-01	7.400000e-01
BCLAF1	9774	broad.mit.edu	37	6	136593153	136593153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136593153A>C	ENST00000531224.1	-	8	2275	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000529917.1_5'Flank	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1			9	Colorectal(23;0.24)				TCTTCTTTAAAAACTCTCTCT	0.303000													Colon(142;1534 1789 5427 7063 28491)											0							SO:0001583	missense			ENST00000531224.1	1	1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280241	0.59758	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000006	T	0.02807	0.0084	N	0.08118	0	0.80722	D	1	P;B;P;B	0.34587	0.458;0.264;0.458;0.244	B;B;B;B	0.39119	0.291;0.069;0.291;0.056	T	0.42982	-0.9419	10	0.11794	T	0.64	-9.1069	10.344	0.43895	0.8534:0.0:0.0:0.1466	.	673;673;675;502	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	675;673;675;502;673;673;674	ENSP00000435210:F675V;ENSP00000229446:F673V;ENSP00000435441:F675V;ENSP00000436501:F502V;ENSP00000434826:F673V;ENSP00000376159:F673V;ENSP00000431734:F674V	ENSP00000229446:F673V	F	-	1	0	BCLAF1	136634846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.945000	0.63568	2.025000	0.59659	0.482000	0.46254	TTT		TCGA-IB-7651-01A-11D-2154-08	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	1	0	1	39	320	0	54	1	1	41	222	0	54	2		0	0	0	0	0	2	1	1	39	286	0	54	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.910000	1.000000	1.000000	0.995206	0.990000	1	9.900000e-01	1
BCLAF1	9774	broad.mit.edu	37	6	136597377	136597377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136597377C>T	ENST00000531224.1	-	5	1538	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1			9	Colorectal(23;0.24)				CTCAGTATTCCGGTGAGATGC	0.403000													Colon(142;1534 1789 5427 7063 28491)											0							SO:0001583	missense			ENST00000531224.1	1	1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649123	0.47362	0.0	2.33E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000027	T	0.03305	0.0096	N	0.08118	0	0.44079	D	0.996831	P;P;P	0.44578	0.838;0.838;0.838	B;B;B	0.31614	0.133;0.133;0.133	T	0.44019	-0.9355	10	0.41790	T	0.15	-4.7974	19.2213	0.93797	0.0:1.0:0.0:0.0	.	427;427;429	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	Q	429;427;429;427;427;429	ENSP00000435210:R429Q;ENSP00000229446:R427Q;ENSP00000435441:R429Q;ENSP00000434826:R427Q;ENSP00000376159:R427Q;ENSP00000431734:R429Q	ENSP00000229446:R427Q	R	-	2	0	BCLAF1	136639070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.194000	0.58393	2.615000	0.88500	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	1	0	0	117	1208	0	255	0	9.999959e-01	0	174	0	255	2		0	0	0	0	0	2	1	1	114	1170	0	254	2								-2.841672	1	1	121412	5	47	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.850000	1.000000	1.000000	0.977044	0.990000	1	9.300000e-01	1
MAP7	9053	broad.mit.edu	37	6	136693712	136693712	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136693712G>A	ENST00000354570.3	-	8	1213	c.803C>T	c.(802-804)tCg>tTg	p.S268L	MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000438100.2_Missense_Mutation_p.S253L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	p.S268L(1)		33	Colorectal(23;0.24)				TCGATCCATCGAATTTCTAGA	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000354570.3	1	1	hg19	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270146	0.23221	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.67	3.83	0.44106	.	0.763445	0.11544	N	0.553417	T	0.01523	0.0049	N	0.05351	-0.065	0.23082	N	0.998324	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.001;0.001;0.0	T	0.47222	-0.9134	10	0.27785	T	0.31	-0.12	11.0815	0.48062	0.1542:0.0:0.8458:0.0	.	253;290;253;290;290;174;231;268	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	L	268;290;253;253;122;174	ENSP00000346581:S268L;ENSP00000414712:S290L;ENSP00000445737:S253L;ENSP00000400790:S253L;ENSP00000414879:S122L	ENSP00000344217:S174L	S	-	2	0	MAP7	136735405	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	2.910000	0.48766	1.336000	0.45506	0.591000	0.81541	TCG		TCGA-IB-7651-01A-11D-2154-08	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	1	0	1	65	264	0	76	1	9.999922e-01	25	48	0	76	2		0	0	0	0	0	2	1	1	65	259	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP7	9053	broad.mit.edu	37	6	136704889	136704889	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136704889T>C	ENST00000354570.3	-	6	967	c.557A>G	c.(556-558)aAt>aGt	p.N186S	MAP7_ENST00000432797.2_Missense_Mutation_p.N40S|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000438100.2_Intron|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7			33	Colorectal(23;0.24)				TTTCGAAAGATTCATGGTGGA	0.413000																								0							SO:0001583	missense			ENST00000354570.3	1	1	hg19	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286674	0.59867	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000432797;ENST00000345567	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000008	T	0.17408	0.0418	M	0.67625	2.065	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;1.0;0.999	D;D;D;D;D;D	0.83275	0.991;0.996;0.991;0.985;0.996;0.991	T	0.03863	-1.0997	10	0.22706	T	0.39	-20.3185	16.6438	0.85155	0.0:0.0:0.0:1.0	.	208;171;208;208;92;186	B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244	.;.;.;.;.;MAP7_HUMAN	S	186;208;171;40;92	ENSP00000346581:N186S;ENSP00000414712:N208S;ENSP00000445737:N171S;ENSP00000414879:N40S	ENSP00000344217:N92S	N	-	2	0	MAP7	136746582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.333000	0.79357	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	1	0	1	72	286	0	55	1	9.998437e-01	23	31	0	55	2		0	0	0	0	0	2	1	1	72	283	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX7	5191	broad.mit.edu	37	6	137191085	137191085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137191085G>A	ENST00000318471.4	+	7	772	c.691G>A	c.(691-693)Gta>Ata	p.V231I	PEX7_ENST00000541292.1_Missense_Mutation_p.V231I	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7			8	Colorectal(23;0.24)				CTTAAGGAATGTACGACAACC	0.363000																								0							SO:0001583	missense			ENST00000318471.4	1	1	hg19	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274149	0.23221	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.81078	-1.45;-1.45	5.84	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.393088	0.27807	N	0.017771	T	0.47229	0.1434	N	0.20401	0.57	0.31429	N	0.673373	B	0.02656	0.0	B	0.01281	0.0	T	0.25641	-1.0126	10	0.22109	T	0.4	-31.2596	10.1468	0.42769	0.2279:0.0:0.7721:0.0	.	231	O00628	PEX7_HUMAN	I	231	ENSP00000441004:V231I;ENSP00000315680:V231I	ENSP00000315680:V231I	V	+	1	0	PEX7	137232778	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.641000	0.37197	1.456000	0.47831	0.591000	0.81541	GTA		TCGA-IB-7651-01A-11D-2154-08	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	0	0	1	101	1151	0	267	1	9.956947e-01	19	74	0	267	2		0	0	0	0	0	2	1	1	98	1119	0	264	2								-19.977770	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.930000	0.760000	1.000000	1.000000	0.927224	0.930000	1	8.400000e-01	1
PEX7	5191	broad.mit.edu	37	6	137234651	137234651	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137234651C>A	ENST00000318471.4	+	10	1040	c.959C>A	c.(958-960)aCt>aAt	p.T320N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7			8	Colorectal(23;0.24)				GCTTGTCTTACTATTCCTGCT	0.358000																								0							SO:0001583	missense			ENST00000318471.4	1	1	hg19	CCDS5180.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.607	0.112873	0.08831	.	.	ENSG00000112357	ENST00000318471	T	0.64085	-0.08	5.34	2.13	0.27403	WD40-repeat-containing domain (1);	0.610740	0.18092	N	0.151942	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.19582	-1.0301	10	0.25751	T	0.34	-22.7369	8.2003	0.31421	0.0:0.607:0.3023:0.0907	.	320	O00628	PEX7_HUMAN	N	320	ENSP00000315680:T320N	ENSP00000315680:T320N	T	+	2	0	PEX7	137276344	0.000000	0.05858	0.003000	0.11579	0.225000	0.24961	0.710000	0.25748	1.223000	0.43536	-0.499000	0.04595	ACT		TCGA-IB-7651-01A-11D-2154-08	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	1	0	1	130	565	0	133	1	9.999997e-01	30	63	0	133	2		0	0	0	0	0	2	1	1	130	556	0	130	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL20RA	53832	broad.mit.edu	37	6	137329757	137329757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137329757G>A	ENST00000316649.5	-	5	938	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367748.1_Nonsense_Mutation_p.Q124*	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha			27	Colorectal(23;0.24)				CTGGCACACTGCTTCTCAGAA	0.517000																								0							SO:0001587	stop_gained			ENST00000316649.5	0	1	hg19	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	41	8.882033	0.98988	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	.	.	.	5.82	5.82	0.92795	.	0.536313	0.20891	N	0.083840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.5671	16.8159	0.85733	0.0:0.0:1.0:0.0	.	.	.	.	X	235;124;186	.	ENSP00000314976:Q235X	Q	-	1	0	IL20RA	137371450	0.987000	0.35691	1.000000	0.80357	0.993000	0.82548	1.230000	0.32612	2.751000	0.94390	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	1	0	0	130	524	0	142	1	9.995844e-01	22	26	0	142	2		0	0	0	0	0	2	1	1	128	515	0	142	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFNGR1	3459	broad.mit.edu	37	6	137519427	137519427	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137519427T>C	ENST00000367739.4	-	7	1332	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1			18	Colorectal(23;0.24)			Interferon gamma-1b(DB00033)	GTGATCACTCTCAGAACAATT	0.413000																								0							SO:0001583	missense			ENST00000367739.4	1	1	hg19	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111371	0.56398	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72167	-0.63;-0.48	5.99	4.84	0.62591	.	1.612290	0.03414	N	0.205248	T	0.37100	0.0991	N	0.08118	0	0.80722	D	1	B;B	0.20550	0.046;0.027	B;B	0.15484	0.013;0.006	T	0.34527	-0.9825	10	0.51188	T	0.08	.	8.0449	0.30542	0.0:0.0881:0.0:0.9119	.	376;404	F5H5M7;P15260	.;INGR1_HUMAN	G	404;376	ENSP00000356713:E404G;ENSP00000443282:E376G	ENSP00000356713:E404G	E	-	2	0	IFNGR1	137561120	0.962000	0.33011	0.941000	0.38009	0.841000	0.47740	2.407000	0.44565	2.297000	0.77311	0.496000	0.49642	GAG		TCGA-IB-7651-01A-11D-2154-08	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1	0	0	1	49	245	1	67	1	1	150	519	1	67	29		0	0	0	0	0	2	1	9.999984e-01	47	242	1	67	15								-3.258621	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OLIG3	167826	broad.mit.edu	37	6	137814750	137814750	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814750G>A	ENST00000367734.2	-	1	781	c.558C>T	c.(556-558)ggC>ggT	p.G186G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3			11	Breast(32;0.165)|Colorectal(23;0.24)				AGAGCGCGCCGCCCAAGATGG	0.726000																								0							SO:0001819	synonymous_variant			ENST00000367734.2	0	1	hg19	CCDS5186.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	1	0	0	12	102	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.992495e-01	12	101	0	11	2								-18.911730	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.670000	1.000000	1.000000	0.963469	0.990000	1	9.100000e-01	1
OLIG3	167826	broad.mit.edu	37	6	137815078	137815078	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815078G>A	ENST00000367734.2	-	1	453	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3			11	Breast(32;0.165)|Colorectal(23;0.24)				GTCCTGCTCCGACAGCTGCTT	0.602000																								0							SO:0001583	missense			ENST00000367734.2	1	1	hg19	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565225	0.65651	.	.	ENSG00000177468	ENST00000367734	T	0.72725	-0.68	5.44	5.44	0.79542	.	0.084158	0.49916	D	0.000135	T	0.45357	0.1338	N	0.19112	0.55	0.58432	D	0.999999	B	0.34329	0.449	B	0.24701	0.055	T	0.56727	-0.7931	10	0.66056	D	0.02	-3.4036	19.2352	0.93856	0.0:0.0:1.0:0.0	.	77	Q7RTU3	OLIG3_HUMAN	L	77	ENSP00000356708:S77L	ENSP00000356708:S77L	S	-	2	0	OLIG3	137856771	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.877000	0.87225	2.534000	0.85438	0.591000	0.81541	TCG		TCGA-IB-7651-01A-11D-2154-08	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	1	0	1	125	588	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	124	583	0	97	2								-3.244633	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OLIG3	167826	broad.mit.edu	37	6	137815239	137815239	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815239C>A	ENST00000367734.2	-	1	292	c.69G>T	c.(67-69)agG>agT	p.R23S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3			11	Breast(32;0.165)|Colorectal(23;0.24)				ggtggtggtCCCTCAGGTACA	0.577000																								0							SO:0001583	missense			ENST00000367734.2	1	1	hg19	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824495	0.32237	.	.	ENSG00000177468	ENST00000367734	D	0.99394	-5.82	5.55	2.91	0.33838	.	0.150750	0.43747	D	0.000533	D	0.90669	0.7073	N	0.04508	-0.205	0.40100	D	0.976369	B	0.22800	0.075	B	0.17098	0.017	D	0.87028	0.2133	10	0.05525	T	0.97	-8.7311	11.6786	0.51444	0.0:0.7315:0.0:0.2685	.	23	Q7RTU3	OLIG3_HUMAN	S	23	ENSP00000356708:R23S	ENSP00000356708:R23S	R	-	3	2	OLIG3	137856932	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.372000	0.20467	0.975000	0.38392	0.591000	0.81541	AGG		TCGA-IB-7651-01A-11D-2154-08	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	1	0	1	98	401	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	95	392	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFAIP3	7128	broad.mit.edu	37	6	138200249	138200249	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138200249C>A	ENST00000237289.4	+	7	1733	c.1667C>A	c.(1666-1668)cCt>cAt	p.P556H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	p.0?(25)		225	Breast(32;0.135)|Colorectal(23;0.24)				ACCAGCCTCCCTCCTTCCTGT	0.602000			D, N, F		marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma								GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	tumor necrosis factor, alpha-induced protein 3		L	25	Whole gene deletion(25)						SO:0001583	missense			ENST00000237289.4	1	1	hg19	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	7.100	0.573974	0.13623	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.31510	1.49	5.66	3.89	0.44902	.	0.686361	0.15795	N	0.244243	T	0.14098	0.0341	L	0.54323	1.7	0.09310	N	1	P	0.45348	0.856	B	0.40101	0.319	T	0.05273	-1.0895	10	0.72032	D	0.01	-12.5527	8.7343	0.34519	0.0:0.7492:0.0:0.2508	.	556	P21580	TNAP3_HUMAN	H	556	ENSP00000237289:P556H	ENSP00000237289:P556H	P	+	2	0	TNFAIP3	138241942	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	0.342000	0.19926	0.753000	0.32945	-0.258000	0.10820	CCT		TCGA-IB-7651-01A-11D-2154-08	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1	1	0	1	90	370	0	83	1	1	12	131	0	83	2		0	0	0	0	0	2	1	1	89	356	0	78	2								-2.800181	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PERP	64065	broad.mit.edu	37	6	138417631	138417631	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138417631G>A	ENST00000421351.3	-	2	385	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector			5	Breast(32;0.0799)|Colorectal(23;0.24)				TCTACCCCACGCTGCAAGAAA	0.443000																								0							SO:0001630	splice_region_variant			ENST00000421351.3	1	0	hg19	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241875	0.58995	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.89123	-2.47	5.5	5.5	0.81552	.	0.458938	0.23404	N	0.048548	D	0.86694	0.5994	L	0.36672	1.1	0.58432	D	0.999997	D	0.65815	0.995	P	0.56514	0.8	D	0.86284	0.1669	10	0.42905	T	0.14	.	13.6399	0.62243	0.0:0.2003:0.7997:0.0	.	72	Q96FX8	PERP_HUMAN	V	72;54	ENSP00000397157:A72V	ENSP00000265603:A54V	A	-	2	0	PERP	138459324	1.000000	0.71417	0.942000	0.38095	0.026000	0.11368	3.975000	0.56859	2.758000	0.94735	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	1	0	1	22	78	0	30	1	1	265	1005	0	30	2		0	0	0	0	0	2	1	9.999987e-01	21	70	0	27	2								-16.279110	1	1	121390	1	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
KIAA1244	57221	broad.mit.edu	37	6	138576683	138576683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138576683C>T	ENST00000251691.4	+	10	1047	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_020340.4	NP_065073.3			KIAA1244			44	Breast(32;0.135)				TCGGACTCTGCGTCTCCGGGA	0.597000																								0							SO:0001583	missense			ENST00000251691.4	1	1	hg19	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	5.937	0.356982	0.11239	.	.	ENSG00000112379	ENST00000251691	T	0.18657	2.2	5.57	3.8	0.43715	.	0.540113	0.21282	N	0.077130	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45877	-0.9231	10	0.13853	T	0.58	-19.3915	5.4561	0.16592	0.1404:0.6416:0.0:0.218	.	294	Q5TH69	BIG3_HUMAN	V	294	ENSP00000251691:A294V	ENSP00000251691:A294V	A	+	2	0	KIAA1244	138618376	0.028000	0.19301	0.022000	0.16811	0.010000	0.07245	2.061000	0.41403	0.726000	0.32339	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	1	0	1	66	312	0	73	1	7.648452e-01	7	8	0	73	2		0	0	0	0	0	2	1	1	64	306	0	71	2								-20.000000	1	1	121408	5	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1244	57221	broad.mit.edu	37	6	138634943	138634943	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138634943A>C	ENST00000251691.4	+	26	4378	c.4212A>C	c.(4210-4212)aaA>aaC	p.K1404N		NM_020340.4	NP_065073.3			KIAA1244			44	Breast(32;0.135)				TATTGGCCAAAATCTACAAAA	0.373000																								0							SO:0001583	missense			ENST00000251691.4	1	1	hg19	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026643	0.54683	.	.	ENSG00000112379	ENST00000251691	T	0.18810	2.19	5.03	1.44	0.22558	.	0.108147	0.64402	D	0.000009	T	0.16642	0.0400	L	0.44542	1.39	0.45439	D	0.998411	D	0.67145	0.996	P	0.62740	0.906	T	0.02320	-1.1177	10	0.33940	T	0.23	-28.0464	8.1894	0.31359	0.7768:0.0:0.2232:0.0	.	1404	Q5TH69	BIG3_HUMAN	N	1404	ENSP00000251691:K1404N	ENSP00000251691:K1404N	K	+	3	2	KIAA1244	138676636	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.455000	0.35190	0.022000	0.15160	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	1	0	1	21	151	0	30	1	7.884224e-01	8	15	0	30	2		0	0	0	0	0	2	1	9.999975e-01	21	144	0	30	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.900000	1.000000	1.000000	0.994693	0.990000	1	9.900000e-01	1
KIAA1244	57221	broad.mit.edu	37	6	138655861	138655861	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138655861A>G	ENST00000251691.4	+	33	6044	c.5878A>G	c.(5878-5880)Acc>Gcc	p.T1960A		NM_020340.4	NP_065073.3			KIAA1244			44	Breast(32;0.135)				TGGGAAAGAAACCCCTTCCGA	0.647000																								0							SO:0001583	missense			ENST00000251691.4	1	1	hg19	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286561	0.59867	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.22134	1.97	5.87	5.87	0.94306	.	1.991490	0.01726	N	0.028617	T	0.13841	0.0335	L	0.34521	1.04	0.80722	D	1	P	0.51351	0.944	B	0.43950	0.437	T	0.18085	-1.0348	10	0.25106	T	0.35	-33.4121	16.2646	0.82568	1.0:0.0:0.0:0.0	.	1960	Q5TH69	BIG3_HUMAN	A	1960;125	ENSP00000251691:T1960A	ENSP00000251691:T1960A	T	+	1	0	KIAA1244	138697554	1.000000	0.71417	0.121000	0.21740	0.182000	0.23217	9.092000	0.94157	2.243000	0.73865	0.443000	0.29094	ACC		TCGA-IB-7651-01A-11D-2154-08	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	1	0	0	34	127	0	29	1	9.448444e-01	10	11	0	29	2		0	0	0	0	0	2	1	1	34	126	0	28	2								-2.999025	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1244	57221	broad.mit.edu	37	6	138656299	138656299	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656299G>T	ENST00000251691.4	+	33	6482	c.6316G>T	c.(6316-6318)Gtg>Ttg	p.V2106L		NM_020340.4	NP_065073.3			KIAA1244			44	Breast(32;0.135)				CAGTGTCTCGGTGAGAGACGC	0.652000																								0							SO:0001583	missense			ENST00000251691.4	0	1	hg19	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971814	0.18736	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.15952	2.38	5.76	4.89	0.63831	.	0.717553	0.14079	N	0.342873	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	10	0.20519	T	0.43	-28.9434	8.9898	0.36017	0.2707:0.0:0.7293:0.0	.	2106	Q5TH69	BIG3_HUMAN	L	2106;147	ENSP00000251691:V2106L	ENSP00000251691:V2106L	V	+	1	0	KIAA1244	138697992	0.501000	0.26099	0.002000	0.10522	0.968000	0.65278	2.325000	0.43840	1.434000	0.47414	0.511000	0.50034	GTG		TCGA-IB-7651-01A-11D-2154-08	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	1	0	1	6	54	0	14	1	7.987928e-01	13	16	0	14	2		0	0	0	0	0	2	1	9.639799e-01	6	52	0	14	2								-12.046570	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.490000	1.000000	1.000000	0.918752	0.990000	1	7.700000e-01	1
KIAA1244	57221	broad.mit.edu	37	6	138656314	138656314	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656314G>A	ENST00000251691.4	+	33	6497	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T		NM_020340.4	NP_065073.3			KIAA1244			44	Breast(32;0.135)				AGACGCAGAAGCACAGATCCA	0.647000																								0							SO:0001583	missense			ENST00000251691.4	0	1	hg19	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377621	0.82682	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.21932	1.98	5.76	4.89	0.63831	.	0.280376	0.40469	N	0.001093	T	0.09069	0.0224	L	0.32530	0.975	0.50039	D	0.99984	B	0.18461	0.028	B	0.12837	0.008	T	0.04128	-1.0975	10	0.56958	D	0.05	-16.5692	14.6602	0.68865	0.0698:0.0:0.9302:0.0	.	2111	Q5TH69	BIG3_HUMAN	T	2111;152	ENSP00000251691:A2111T	ENSP00000251691:A2111T	A	+	1	0	KIAA1244	138698007	1.000000	0.71417	0.018000	0.16275	0.978000	0.69477	9.181000	0.94874	1.439000	0.47511	0.511000	0.50034	GCA		TCGA-IB-7651-01A-11D-2154-08	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	0	0	1	7	50	0	15	1	7.000645e-01	9	10	0	15	2		0	0	0	0	0	2	1	9.817722e-01	7	49	0	15	2								-13.674830	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.630000	1.000000	1.000000	0.962904	0.990000	1	9.300000e-01	1
FOXF2	2295	broad.mit.edu	37	6	1390839	1390839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1390839G>A	ENST00000259806.1	+	1	771	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2			8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)			TCGGGGCGTCGCTGCTGCCCC	0.746000																								0							SO:0001819	synonymous_variant			ENST00000259806.1	1	1	hg19	CCDS4472.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1	1	0	0	27	167	0	36	0	5.671655e-02	0	3	0	36	2		0	0	0	0	0	2	1	1	27	167	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999358	0.990000	1	9.900000e-01	1
CCDC28A	25901	broad.mit.edu	37	6	139097399	139097399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139097399C>T	ENST00000332797.6	+	2	567	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A			13					AACTTCACAGCGACCAAAGTT	0.358000																								0							SO:0001587	stop_gained			ENST00000332797.6	0	1	hg19	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	C	37	6.371234	0.97511	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	.	.	.	5.79	-0.143	0.13444	.	0.280729	0.39020	N	0.001490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6938	17.2014	0.86907	0.8113:0.1887:0.0:0.0	.	.	.	.	X	138;25	.	ENSP00000026464:R25X	R	+	1	2	CCDC28A	139139092	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	1.706000	0.37878	0.033000	0.15463	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	0	0	0	11	389	0	83	1	9.067783e-01	4	145	0	83	2		0	0	0	0	0	2	1	9.982427e-01	11	383	0	82	2								-3.185556	1	1	121412	1	28	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.320000	0.170000	0.540000	0.320000	0.342463	0.320000	0	2.400000e-01	4.300000e-01
FOXF2	2295	broad.mit.edu	37	6	1391220	1391220	+	Silent	SNP	G	G	A	rs144247905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1391220G>A	ENST00000259806.1	+	1	1152	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2			8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)			CTGGCGCCTCGCCTTACCTCA	0.706000																								0							SO:0001819	synonymous_variant			ENST00000259806.1	1	1	hg19	CCDS4472.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1	1	0	0	14	73	0	19	0	5.631977e-01	0	11	0	19	2		0	0	0	0	0	2	1	9.998266e-01	14	72	0	18	2								-19.999980	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.997567	0.990000	1	9.900000e-01	1
ECT2L	345930	broad.mit.edu	37	6	139186158	139186158	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139186158A>C	ENST00000423192.1	+	11	1478	c.1317A>C	c.(1315-1317)caA>caC	p.Q439H	ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like			30					TGGGATCCCAATGGGGAAAGG	0.428000			N, Splice, Mis		ETP ALL										Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0							SO:0001583	missense			ENST00000423192.1	1	1	hg19	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	A	4.105	0.017592	0.07959	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75154	0.2;0.2;-0.91	5.08	-5.87	0.02297	.	2.073900	0.05119	U	0.490444	T	0.26702	0.0653	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.05370	-1.0889	10	0.30854	T	0.27	8.4498	1.4937	0.02461	0.4252:0.1031:0.2543:0.2174	.	370;439	F5H7S9;Q008S8	.;ECT2L_HUMAN	H	439;439;370	ENSP00000387388:Q439H;ENSP00000356655:Q439H;ENSP00000442307:Q370H	ENSP00000356655:Q439H	Q	+	3	2	ECT2L	139227851	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.178000	0.09782	-1.061000	0.03185	-0.462000	0.05337	CAA		TCGA-IB-7651-01A-11D-2154-08	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	1	0	1	62	270	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	61	266	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REPS1	85021	broad.mit.edu	37	6	139237004	139237004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139237004C>A	ENST00000450536.2	-	14	2285	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	REPS1_ENST00000258062.5_Missense_Mutation_p.V570F|REPS1_ENST00000367663.4_Missense_Mutation_p.V544F|REPS1_ENST00000415951.2_Missense_Mutation_p.V544F|REPS1_ENST00000409812.2_Intron			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1			19					CCTGTGGTGACTGTAAAGGTC	0.398000																								0							SO:0001583	missense			ENST00000450536.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694080	0.68386	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.31769	1.5;1.49;1.48;1.5;1.51	5.96	5.96	0.96718	.	0.055755	0.64402	D	0.000001	T	0.16471	0.0396	L	0.33485	1.01	0.51233	D	0.999911	P;P;P;P	0.43477	0.773;0.716;0.664;0.808	B;B;B;B	0.40534	0.332;0.232;0.178;0.312	T	0.01500	-1.1339	10	0.52906	T	0.07	-8.3031	14.5539	0.68086	0.0:0.9307:0.0:0.0693	.	570;519;571;544	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	F	571;544;529;570;544;519	ENSP00000392065:V571F;ENSP00000356635:V544F;ENSP00000434251:V529F;ENSP00000258062:V570F;ENSP00000397941:V544F	ENSP00000258062:V570F	V	-	1	0	REPS1	139278697	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	5.398000	0.66308	2.832000	0.97577	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3	0	0	1	74	323	1	59	1	9.967059e-01	23	64	1	59	7		0	0	0	0	0	2	1	1	73	311	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REPS1	85021	broad.mit.edu	37	6	139242254	139242254	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139242254G>T	ENST00000450536.2	-	11	1920	c.1346C>A	c.(1345-1347)gCt>gAt	p.A449D	REPS1_ENST00000258062.5_Missense_Mutation_p.A449D|REPS1_ENST00000367663.4_Missense_Mutation_p.A422D|REPS1_ENST00000415951.2_Missense_Mutation_p.A422D|REPS1_ENST00000409812.2_Missense_Mutation_p.A422D			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1			19					ATGAACAATAGCAGTATCCTA	0.383000																								0							SO:0001583	missense			ENST00000450536.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	31	5.064595	0.93898	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.35605	1.43;1.32;1.3;1.46;1.44;1.33	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.979;0.998	D;D;D;P;D	0.85130	0.983;0.972;0.997;0.718;0.994	T	0.10567	-1.0624	10	0.13853	T	0.58	-16.3376	19.4156	0.94697	0.0:0.0:1.0:0.0	.	449;397;422;449;422	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	D	449;422;408;422;449;422;397;36	ENSP00000392065:A449D;ENSP00000356635:A422D;ENSP00000434251:A408D;ENSP00000386699:A422D;ENSP00000258062:A449D;ENSP00000397941:A422D	ENSP00000258062:A449D	A	-	2	0	REPS1	139283947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.595000	0.87683	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3	1	0	1	55	213	0	52	1	9.999988e-01	22	60	0	52	2		0	0	0	0	0	2	1	1	51	207	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REPS1	85021	broad.mit.edu	37	6	139265101	139265101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139265101G>A	ENST00000450536.2	-	6	1379	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000367663.4_Missense_Mutation_p.R269C|REPS1_ENST00000415951.2_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1			19					GATTGCCTACGAATTTCAATG	0.363000																								0							SO:0001583	missense			ENST00000450536.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.3	4.513044	0.85389	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.32988	1.44;1.43;1.45;1.45;1.43;1.43	6.01	6.01	0.97437	.	0.048115	0.85682	D	0.000000	T	0.34513	0.0900	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;D;P	0.63488	0.851;0.897;0.915;0.794	T	0.13019	-1.0525	10	0.59425	D	0.04	-11.6175	20.5211	0.99222	0.0:0.0:1.0:0.0	.	269;269;269;269	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	269;269;255;269;269;269;217	ENSP00000392065:R269C;ENSP00000356635:R269C;ENSP00000434251:R255C;ENSP00000386699:R269C;ENSP00000258062:R269C;ENSP00000397941:R269C	ENSP00000258062:R269C	R	-	1	0	REPS1	139306794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.861000	0.98227	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3	1	0	1	44	235	0	73	1	9.984343e-01	11	44	0	73	2		0	0	0	0	0	2	1	1	44	232	0	73	2								-3.239593	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
HECA	51696	broad.mit.edu	37	6	139498117	139498117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139498117G>A	ENST00000367658.2	+	4	1792	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)			15					GCCGGTGATCGACGTGAGGAT	0.547000																								0							SO:0001583	missense			ENST00000367658.2	1	1	hg19	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586932	0.96578	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51356	-0.8716	9	0.25106	T	0.35	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	503	Q9UBI9	HDC_HUMAN	N	503	.	ENSP00000356630:D503N	D	+	1	0	HECA	139539810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	1	0	1	28	124	0	33	1	9.999893e-01	12	74	0	33	2		0	0	0	0	0	2	1	1	28	120	0	33	2								-17.640610	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
TXLNB	167838	broad.mit.edu	37	6	139563819	139563819	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139563819T>C	ENST00000358430.3	-	10	2131	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta			37					CTGCGCATGCTGGAGCAGGCA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000358430.3	1	1	hg19	CCDS34545.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	1	0	1	118	558	0	93	0	4.215102e-01	0	8	0	93	2		0	0	0	0	0	2	1	1	117	554	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXLNB	167838	broad.mit.edu	37	6	139564024	139564024	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139564024G>A	ENST00000358430.3	-	10	1926	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta			37					GCCTCCTTCGGCTTCAGCCTG	0.602000																								0							SO:0001583	missense			ENST00000358430.3	1	1	hg19	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626650	0.28978	.	.	ENSG00000164440	ENST00000358430	T	0.15256	2.44	5.07	2.3	0.28687	.	1.392830	0.04153	N	0.321664	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.37911	-0.9685	9	.	.	.	0.428	5.143	0.14969	0.1847:0.1703:0.645:0.0	.	565	Q8N3L3	TXLNB_HUMAN	V	565	ENSP00000351206:A565V	.	A	-	2	0	TXLNB	139605717	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	0.300000	0.22699	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	1	0	0	31	359	0	74	0	1.649806e-01	0	9	0	74	2		0	0	0	0	0	2	1	1	31	350	0	71	2								-3.318794	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.920000	0.640000	1.000000	1.000000	0.898901	0.920000	1	7.700000e-01	1
TXLNB	167838	broad.mit.edu	37	6	139598041	139598041	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139598041G>T	ENST00000358430.3	-	3	674	c.442C>A	c.(442-444)Cta>Ata	p.L148I	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta			37					TTTTGCATTAGCAGGTTGGCT	0.353000																								0							SO:0001583	missense			ENST00000358430.3	1	1	hg19	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469088	0.63625	.	.	ENSG00000164440	ENST00000358430	T	0.39997	1.05	5.06	4.18	0.49190	.	0.067702	0.64402	N	0.000011	T	0.49695	0.1572	M	0.82323	2.585	0.38835	D	0.955921	D	0.63880	0.993	D	0.65573	0.936	T	0.56836	-0.7913	9	.	.	.	-10.2692	6.224	0.20698	0.1497:0.0:0.6965:0.1538	.	148	Q8N3L3	TXLNB_HUMAN	I	148	ENSP00000351206:L148I	.	L	-	1	2	TXLNB	139639734	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	3.799000	0.55529	1.235000	0.43724	0.555000	0.69702	CTA		TCGA-IB-7651-01A-11D-2154-08	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	1	0	1	38	159	0	72	0	3.348670e-01	0	6	0	72	2		0	0	0	0	0	2	1	1	36	157	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CITED2	10370	broad.mit.edu	37	6	139694740	139694740	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139694740C>T	ENST00000367651.2	-	2	557	c.342G>A	c.(340-342)atG>atA	p.M114I	CITED2_ENST00000537332.1_Missense_Mutation_p.M114I|CITED2_ENST00000536159.1_Missense_Mutation_p.M114I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2			5	Breast(32;0.226)				TCTGCAGCTGCATGCTGGCCG	0.642000													NSCLC(98;1219 1550 33720 43229 49330)											0							SO:0001583	missense			ENST00000367651.2	1	1	hg19	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400326	0.42613	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.69685	-0.42;-0.42;-0.42	5.18	5.18	0.71444	.	0.121048	0.51477	D	0.000081	T	0.59335	0.2186	M	0.62723	1.935	0.80722	D	1	P	0.48162	0.906	B	0.43575	0.424	T	0.62595	-0.6821	9	.	.	.	-3.6977	18.6953	0.91599	0.0:1.0:0.0:0.0	.	114	Q99967	CITE2_HUMAN	I	114	ENSP00000356623:M114I;ENSP00000442831:M114I;ENSP00000444198:M114I	.	M	-	3	0	CITED2	139736433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.878000	0.75567	2.431000	0.82371	0.462000	0.41574	ATG		TCGA-IB-7651-01A-11D-2154-08	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1	1	0	0	73	292	0	42	1	1	47	216	0	42	2		0	0	0	0	0	2	1	1	70	285	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CITED2	10370	broad.mit.edu	37	6	139695019	139695019	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139695019G>A	ENST00000367651.2	-	2	278	c.63C>T	c.(61-63)caC>caT	p.H21H	CITED2_ENST00000537332.1_Silent_p.H21H|CITED2_ENST00000536159.1_Silent_p.H21H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2			5	Breast(32;0.226)				CAGGGTGATGGTGCAGCCCAT	0.622000													NSCLC(98;1219 1550 33720 43229 49330)											0							SO:0001819	synonymous_variant			ENST00000367651.2	1	1	hg19	CCDS5195.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1	1	0	1	36	157	0	38	1	1	28	240	0	38	2		0	0	0	0	0	2	1	1	35	152	0	38	2								-20.000000	1	1	121404	2	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NMBR	4829	broad.mit.edu	37	6	142396962	142396962	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142396962C>T	ENST00000258042.1	-	3	1136	c.996G>A	c.(994-996)agG>agA	p.R332R	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor			23	Breast(32;0.155)				TGAAATGCCTCCTGAAGCTTT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000258042.1	1	1	hg19	CCDS5196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1	0	0	1	79	373	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	79	370	0	83	2								-3.060933	1	1	121410	1	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NMBR	4829	broad.mit.edu	37	6	142409766	142409766	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142409766C>T	ENST00000258042.1	-	1	170	c.30G>A	c.(28-30)tcG>tcA	p.S10S	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor			23	Breast(32;0.155)				CGGTGGTCACCGAGAGGTTGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000258042.1	1	1	hg19	CCDS5196.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1	1	0	1	40	140	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	37	135	0	31	2								-3.598287	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIVEP2	3097	broad.mit.edu	37	6	143074447	143074447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143074447G>T	ENST00000367604.1	-	9	7777	c.7138C>A	c.(7138-7140)Ccc>Acc	p.P2380T	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2380T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2			100					GAGGTACAGGGCTGACCTGGC	0.542000													Esophageal Squamous(107;843 1510 13293 16805 42198)											0							SO:0001583	missense			ENST00000367604.1	1	1	hg19	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	0.810	-0.752422	0.03041	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02177	4.41;4.41;4.41	5.78	3.89	0.44902	.	0.365525	0.29646	N	0.011573	T	0.00524	0.0017	N	0.08118	0	0.26332	N	0.977501	B	0.06786	0.001	B	0.04013	0.001	T	0.48822	-0.9001	10	0.24483	T	0.36	-9.7779	11.1307	0.48345	0.0:0.2168:0.5767:0.2064	.	2380	P31629	ZEP2_HUMAN	T	2380	ENSP00000356576:P2380T;ENSP00000356575:P2380T;ENSP00000012134:P2380T	ENSP00000012134:P2380T	P	-	1	0	HIVEP2	143116140	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.515000	0.22801	1.431000	0.47355	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	1	118	546	0	133	1	9.999997e-01	24	75	0	133	2		0	0	0	0	0	2	1	1	116	531	0	132	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIVEP2	3097	broad.mit.edu	37	6	143081626	143081626	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143081626T>C	ENST00000367604.1	-	8	6438	c.5799A>G	c.(5797-5799)tcA>tcG	p.S1933S	HIVEP2_ENST00000367603.2_Silent_p.S1933S|HIVEP2_ENST00000012134.2_Silent_p.S1933S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2			100					TGGTGCTTCTTGATCTTGTTT	0.473000													Esophageal Squamous(107;843 1510 13293 16805 42198)											0							SO:0001819	synonymous_variant			ENST00000367604.1	1	1	hg19	CCDS43510.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	0	20	226	0	52	1	9.993672e-01	9	128	0	52	2		0	0	0	0	0	2	1	9.999949e-01	19	220	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.940000	0.600000	1.000000	1.000000	0.899945	0.940000	1	7.500000e-01	1
HIVEP2	3097	broad.mit.edu	37	6	143082630	143082630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143082630G>A	ENST00000367604.1	-	7	6230	c.5591C>T	c.(5590-5592)tCg>tTg	p.S1864L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1864L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2			100					ATCATCCACCGATGTCATTGA	0.403000													Esophageal Squamous(107;843 1510 13293 16805 42198)											0							SO:0001583	missense			ENST00000367604.1	1	1	hg19	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708935	0.89018	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02631	4.22;4.22;4.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	N	0.21373	0.66	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.54077	-0.8347	10	0.72032	D	0.01	-16.1067	19.7939	0.96471	0.0:0.0:1.0:0.0	.	1864	P31629	ZEP2_HUMAN	L	1864	ENSP00000356576:S1864L;ENSP00000356575:S1864L;ENSP00000012134:S1864L	ENSP00000012134:S1864L	S	-	2	0	HIVEP2	143124323	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.812000	0.75226	2.668000	0.90789	0.563000	0.77884	TCG		TCGA-IB-7651-01A-11D-2154-08	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	1	163	726	0	151	1	9.999987e-01	18	67	0	151	2		0	0	0	0	0	2	1	1	159	715	0	150	2								-20.000000	1	1	120850	3	41	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIVEP2	3097	broad.mit.edu	37	6	143092570	143092570	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143092570G>A	ENST00000367604.1	-	4	3945	c.3306C>T	c.(3304-3306)agC>agT	p.S1102S	HIVEP2_ENST00000367603.2_Silent_p.S1102S|HIVEP2_ENST00000012134.2_Silent_p.S1102S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2			100					CTTGCTTCACGCTCTGATCCA	0.612000													Esophageal Squamous(107;843 1510 13293 16805 42198)											0							SO:0001819	synonymous_variant			ENST00000367604.1	1	0	hg19	CCDS43510.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	0	51	499	0	89	1	9.205896e-01	7	37	0	89	2		0	0	0	0	0	2	1	1	51	492	0	89	2								-15.231350	1	1	121072	154	54	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.810000	1.000000	1.000000	0.976778	0.990000	1	9.300000e-01	1
HIVEP2	3097	broad.mit.edu	37	6	143094707	143094707	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143094707G>A	ENST00000367604.1	-	4	1808	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P390L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	p.P390Q(1)		100					TTTACTGTGCGGGCTCAGAAG	0.443000													Esophageal Squamous(107;843 1510 13293 16805 42198)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367604.1	1	1	hg19	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277436	0.80580	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.53423	0.62;0.62;0.62	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72620	-0.4238	10	0.87932	D	0	-23.2456	20.0844	0.97795	0.0:0.0:1.0:0.0	.	390	P31629	ZEP2_HUMAN	L	390	ENSP00000356576:P390L;ENSP00000356575:P390L;ENSP00000012134:P390L	ENSP00000012134:P390L	P	-	2	0	HIVEP2	143136400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	CCG		TCGA-IB-7651-01A-11D-2154-08	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	1	0	1	146	595	0	128	1	9.983843e-01	5	36	0	128	2		0	0	0	0	0	2	1	1	144	591	0	126	2								-2.404839	0	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAT2	134637	broad.mit.edu	37	6	143753712	143753712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143753712C>T	ENST00000237283.8	-	4	403	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	ADAT2_ENST00000606514.1_Missense_Mutation_p.R83Q	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2			8					ACCACCAAATCGTTCATTCTG	0.393000																								0							SO:0001583	missense			ENST00000237283.8	1	1	hg19	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718738	0.96839	.	.	ENSG00000189007	ENST00000367594;ENST00000237283	.	.	.	5.5	5.5	0.81552	Cytidine deaminase-like (1);	0.119263	0.56097	D	0.000022	D	0.85557	0.5724	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88504	0.3084	9	0.87932	D	0	-6.0983	19.7578	0.96301	0.0:1.0:0.0:0.0	.	130	Q7Z6V5	ADAT2_HUMAN	Q	83;130	.	ENSP00000237283:R130Q	R	-	2	0	ADAT2	143795405	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.079000	0.76829	2.746000	0.94184	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	1	0	1	66	347	0	71	1	7.799520e-01	4	13	0	71	2		0	0	0	0	0	2	1	1	65	341	0	71	2								-3.151684	1	1	120858	2	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX3	8504	broad.mit.edu	37	6	143780343	143780343	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143780343C>T	ENST00000367591.4	+	2	258	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3			18					AGAGGACTTGCAATATGACAG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000367591.4	1	1	hg19	CCDS5199.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1	1	0	1	122	490	0	95	1	9.999994e-01	29	54	0	95	2		0	0	0	0	0	2	1	1	118	475	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHACTR2	9749	broad.mit.edu	37	6	144086760	144086760	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086760C>A	ENST00000427704.2	+	6	1154	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2			30					CCCTCTCCCTCTTGAGGATCA	0.582000													Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)											0							SO:0001583	missense			ENST00000427704.2	1	1	hg19	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723102	0.30503	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.33654	1.4;1.83;1.44;1.83;1.44	5.22	2.34	0.29019	.	1.943490	0.02138	N	0.056949	T	0.13200	0.0320	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.29766	0.256;0.019;0.019;0.011	B;B;B;B	0.32289	0.143;0.015;0.015;0.007	T	0.16808	-1.0390	10	0.16896	T	0.51	.	5.5824	0.17256	0.0:0.4751:0.291:0.2338	.	353;262;273;342	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	330;342;262;353;273	ENSP00000356556:L330I;ENSP00000391763:L342I;ENSP00000305530:L262I;ENSP00000417038:L353I;ENSP00000356554:L273I	ENSP00000305530:L262I	L	+	1	0	PHACTR2	144128453	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.023000	0.13533	0.549000	0.28973	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	1	0	1	74	321	0	96	1	9.999992e-01	11	80	0	96	2		0	0	0	0	0	2	1	1	70	306	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHACTR2	9749	broad.mit.edu	37	6	144086912	144086912	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086912T>C	ENST00000427704.2	+	6	1306	c.1176T>C	c.(1174-1176)agT>agC	p.S392S	PHACTR2_ENST00000440869.2_Silent_p.S403S|PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367582.3_Silent_p.S323S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2			30					CTGGCTTAAGTGTTAACAGAG	0.458000													Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)											0							SO:0001819	synonymous_variant			ENST00000427704.2	1	1	hg19	CCDS47492.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	1	0	0	88	391	0	107	1	9.998653e-01	5	55	0	107	2		0	0	0	0	0	2	1	1	88	383	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLAGL1	5325	broad.mit.edu	37	6	144263408	144263408	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263408T>G	ENST00000360537.2	-	5	2458	c.545A>C	c.(544-546)aAg>aCg	p.K182T	PLAGL1_ENST00000354765.2_Missense_Mutation_p.K182T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000429150.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.K130T			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1			13					CAGGAAGTCCTTGCATCCTGT	0.557000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000360537.2	0	1	hg19	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560945	0.86335	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.88	5.88	0.94601	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.76300	0.3968	M	0.80847	2.515	0.52099	D	0.999948	D	0.89917	1.0	D	0.83275	0.996	T	0.80594	-0.1313	10	0.87932	D	0	-36.5868	15.4686	0.75422	0.0:0.0:0.0:1.0	.	182	Q9UM63	PLAL1_HUMAN	T	182;182;182;182;182;182;130;130;130;182;130	ENSP00000353734:K182T;ENSP00000346810:K182T;ENSP00000400929:K182T;ENSP00000398409:K182T;ENSP00000376125:K182T;ENSP00000400060:K182T;ENSP00000392418:K130T;ENSP00000376124:K130T;ENSP00000356544:K130T;ENSP00000356543:K182T;ENSP00000395960:K130T	ENSP00000346810:K182T	K	-	2	0	PLAGL1	144305101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.989000	0.88205	2.235000	0.73313	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1	0	0	0	11	445	0	81	0	1.970376e-01	0	31	0	81	2		0	0	0	0	0	2	1	9.981134e-01	11	433	0	79	2								-3.286311	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.280000	0.150000	0.470000	0.280000	0.301079	0.280000	0	2.100000e-01	3.800000e-01
PLAGL1	5325	broad.mit.edu	37	6	144263595	144263595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263595G>A	ENST00000360537.2	-	5	2271	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	PLAGL1_ENST00000354765.2_Missense_Mutation_p.L120F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000429150.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.L68F			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1			13					CCACAGGTGAGGTCCCCACTG	0.597000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000360537.2	0	1	hg19	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772300	0.90108	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.98;2.98;2.98;2.92;2.98	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000018	T	0.06962	0.0177	N	0.02751	-0.505	0.58432	D	0.999999	P	0.43519	0.809	P	0.53722	0.733	T	0.51616	-0.8683	10	0.51188	T	0.08	-42.4362	19.8676	0.96824	0.0:0.0:1.0:0.0	.	120	Q9UM63	PLAL1_HUMAN	F	120;120;120;120;120;120;68;68;68;120;68	ENSP00000353734:L120F;ENSP00000346810:L120F;ENSP00000400929:L120F;ENSP00000398409:L120F;ENSP00000376125:L120F;ENSP00000400060:L120F;ENSP00000392418:L68F;ENSP00000376124:L68F;ENSP00000356544:L68F;ENSP00000356543:L120F;ENSP00000395960:L68F	ENSP00000346810:L120F	L	-	1	0	PLAGL1	144305288	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.870000	0.87175	2.941000	0.99782	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1	0	0	0	6	194	0	39	0	3.831698e-01	1	38	0	39	2		0	0	0	0	0	2	1	9.634398e-01	6	190	0	39	2								-2.977921	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.360000	0.150000	0.690000	0.340000	0.392258	0.360000	0	2.400000e-01	5.300000e-01
SF3B5	83443	broad.mit.edu	37	6	144416556	144416556	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144416556T>C	ENST00000367569.2	-	1	198	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa			3					TCCCACTTGGTGGTGTCGGCG	0.592000																								0							SO:0001583	missense			ENST00000367569.2	1	1	hg19	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111018	0.77210	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.53	5.53	0.82687	.	0.093132	0.64402	D	0.000001	T	0.43765	0.1262	.	.	.	0.58432	D	0.999996	B	0.09022	0.002	B	0.09377	0.004	T	0.48703	-0.9012	8	0.72032	D	0.01	.	15.4975	0.75666	0.0:0.0:0.0:1.0	.	27	Q9BWJ5	SF3B5_HUMAN	A	27	.	ENSP00000356541:T27A	T	-	1	0	SF3B5	144458249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.799000	0.85936	2.324000	0.78689	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	1	0	1	65	294	0	81	1	1	257	555	0	81	2		0	0	0	0	0	2	1	1	62	268	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STX11	8676	broad.mit.edu	37	6	144508031	144508031	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144508031C>T	ENST00000367568.4	+	2	450	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11			12					CCAACTCCATCGCCAAGGCCA	0.677000									Familial Hemophagocytic Lymphohistiocytosis															0							SO:0001819	synonymous_variant	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	ENST00000367568.4	1	1	hg19	CCDS5205.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1	1	0	1	47	191	0	46	0	9.534877e-01	1	22	0	46	2		0	0	0	0	0	2	1	1	47	188	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UTRN	7402	broad.mit.edu	37	6	144758737	144758737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758737G>A	ENST00000367545.3	+	10	1096	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin			148		Ovarian(120;0.218)			CCAGAGCAGTGTGGGCAGCGT	0.443000																								0							SO:0001583	missense			ENST00000367545.3	1	1	hg19	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912214	0.92178	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.58210	0.35	5.45	5.45	0.79879	.	0.000000	0.44902	D	0.000415	T	0.74007	0.3660	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78239	-0.2281	10	0.66056	D	0.02	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	366	P46939	UTRO_HUMAN	M	366	ENSP00000356515:V366M	ENSP00000356499:V366M	V	+	1	0	UTRN	144800430	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1	39	279	0	74	1	9.878341e-01	8	44	0	74	2		0	0	0	0	0	2	1	1	38	273	0	74	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999195	0.990000	1	9.900000e-01	1
UTRN	7402	broad.mit.edu	37	6	144758755	144758755	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758755G>A	ENST00000367545.3	+	10	1114	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin			148		Ovarian(120;0.218)			CGTCCTGCAGGCAGGCAACCA	0.463000																								0							SO:0001583	missense			ENST00000367545.3	1	1	hg19	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019322	0.93462	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.47528	0.84	5.45	5.45	0.79879	.	0.000000	0.49305	D	0.000144	T	0.61615	0.2361	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56944	-0.7895	10	0.34782	T	0.22	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	372	P46939	UTRO_HUMAN	T	372	ENSP00000356515:A372T	ENSP00000356499:A372T	A	+	1	0	UTRN	144800448	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1	48	278	0	85	1	9.995456e-01	11	58	0	85	2		0	0	0	0	0	2	1	1	46	273	0	85	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
UTRN	7402	broad.mit.edu	37	6	144768443	144768443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144768443C>T	ENST00000367545.3	+	14	1711	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	p.R571*(2)		148		Ovarian(120;0.218)			TGTCAGTGTTCGACGTCTGGC	0.383000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000367545.3	0	1	hg19	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	38	7.240768	0.98157	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.85	4.98	0.66077	.	0.000000	0.44902	D	0.000415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7217	0.40306	0.1401:0.7897:0.0:0.0702	.	.	.	.	X	571	.	ENSP00000356499:R571X	R	+	1	2	UTRN	144810136	1.000000	0.71417	0.110000	0.21437	0.686000	0.39977	4.662000	0.61525	1.470000	0.48102	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1	15	116	0	20	0	9.995198e-01	1	104	0	20	2		0	0	0	0	0	2	1	9.998991e-01	15	115	0	20	2								-8.920921	1	1	121400	1	27	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.780000	1.000000	1.000000	0.983173	0.990000	1	9.900000e-01	1
UTRN	7402	broad.mit.edu	37	6	144780066	144780066	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144780066G>A	ENST00000367545.3	+	19	2445	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin			148		Ovarian(120;0.218)			AGGTCATCAAGACAAAGGAGG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000367545.3	1	1	hg19	CCDS34547.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1	48	210	0	54	1	9.999227e-01	14	51	0	54	2		0	0	0	0	0	2	1	1	47	206	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UTRN	7402	broad.mit.edu	37	6	145075930	145075930	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:145075930C>A	ENST00000367545.3	+	56	8430	c.8430C>A	c.(8428-8430)ctC>ctA	p.L2810L	UTRN_ENST00000367526.4_Silent_p.L365L|UTRN_ENST00000480333.1_3'UTR	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin			148		Ovarian(120;0.218)			AGCATTTTCTCTCTAGTAAGT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000367545.3	1	1	hg19	CCDS34547.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1	65	269	0	63	1	1	43	103	0	63	2		0	0	0	0	0	2	1	1	63	263	0	63	2								-3.046484	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO30	84085	broad.mit.edu	37	6	146126966	146126966	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146126966A>C	ENST00000237281.4	-	2	742	c.576T>G	c.(574-576)agT>agG	p.S192R		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30			26		Ovarian(120;0.0776)			CAGCAGCCAAACTTCTGGTTG	0.398000																								0							SO:0001583	missense			ENST00000237281.4	0	1	hg19	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649346	0.47362	.	.	ENSG00000118496	ENST00000237281	T	0.30448	1.53	5.82	4.63	0.57726	.	0.074325	0.85682	D	0.000000	T	0.35422	0.0931	L	0.58101	1.795	0.58432	D	0.999998	D	0.65815	0.995	P	0.62560	0.904	T	0.18681	-1.0329	10	0.54805	T	0.06	-23.7079	12.0806	0.53669	0.932:0.0:0.068:0.0	.	192	Q8TB52	FBX30_HUMAN	R	192	ENSP00000237281:S192R	ENSP00000237281:S192R	S	-	3	2	FBXO30	146168659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.953000	0.49105	0.984000	0.38629	0.482000	0.46254	AGT		TCGA-IB-7651-01A-11D-2154-08	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2	0	0	0	15	914	0	162	0	1.522986e-01	0	40	0	162	2		0	0	0	0	0	2	1	9.998604e-01	15	907	0	162	2								-10.171070	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.180000	0.100000	0.300000	0.190000	0.198654	0.180000	0	1.400000e-01	2.500000e-01
SHPRH	257218	broad.mit.edu	37	6	146214385	146214385	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214385C>T	ENST00000367505.2	-	28	5104	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	SHPRH_ENST00000367503.3_Missense_Mutation_p.A1618T|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase			79		Ovarian(120;0.0365)			CTCCCTATGGCCTGAAGCTCA	0.438000																								0							SO:0001583	missense			ENST00000367505.2	1	1	hg19	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.550226	0.96501	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.44	5.44	0.79542	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91955	0.7452	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94992	0.8135	10	0.87932	D	0	-12.4244	19.2562	0.93947	0.0:1.0:0.0:0.0	.	1614;1618	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	36;62;1614;1618;1618;1614	ENSP00000403790:A36T;ENSP00000356475:A1614T;ENSP00000356473:A1618T;ENSP00000412797:A1618T;ENSP00000275233:A1614T	ENSP00000275233:A1614T	A	-	1	0	SHPRH	146256078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.549000	0.85964	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	1	0	1	43	184	0	47	1	9.234687e-01	4	16	0	47	2		0	0	0	0	0	2	1	1	41	181	0	47	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHPRH	257218	broad.mit.edu	37	6	146214434	146214434	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214434A>G	ENST00000367505.2	-	28	5055	c.4791T>C	c.(4789-4791)acT>acC	p.T1597T	SHPRH_ENST00000367503.3_Silent_p.T1601T|SHPRH_ENST00000438092.2_Silent_p.T1601T|SHPRH_ENST00000275233.7_Silent_p.T1597T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase			79		Ovarian(120;0.0365)			AGAGAACATGAGTTGCTTCAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000367505.2	1	1	hg19	CCDS43513.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	1	0	1	39	168	0	39	1	9.954898e-01	8	31	0	39	2		0	0	0	0	0	2	1	1	37	166	0	38	2								-19.999490	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHPRH	257218	broad.mit.edu	37	6	146264761	146264761	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146264761T>G	ENST00000367505.2	-	9	2020	c.1756A>C	c.(1756-1758)Aaa>Caa	p.K586Q	SHPRH_ENST00000367503.3_Missense_Mutation_p.K586Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase			79		Ovarian(120;0.0365)			CTTTTTCCTTTTTTTGTGGAT	0.373000																								0							SO:0001583	missense			ENST00000367505.2	1	1	hg19	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	9.624	1.134688	0.21123	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.46	4.28	0.50868	DEAD-like helicase (1);	0.598979	0.16529	N	0.210466	T	0.29850	0.0746	N	0.14661	0.345	0.09310	N	1	B;B;B;P	0.43094	0.002;0.229;0.191;0.799	B;B;B;B	0.36845	0.009;0.175;0.109;0.234	T	0.08391	-1.0724	10	0.33940	T	0.23	-11.4061	2.5385	0.04720	0.1425:0.0804:0.2966:0.4805	.	475;586;586;475	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	Q	586;586;586;586;475	ENSP00000356475:K586Q;ENSP00000356473:K586Q;ENSP00000412797:K586Q;ENSP00000275233:K586Q	ENSP00000275233:K586Q	K	-	1	0	SHPRH	146306454	0.920000	0.31207	0.010000	0.14722	0.097000	0.18754	2.129000	0.42055	0.997000	0.38969	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	1	0	1	153	640	0	93	1	8.868484e-01	3	15	0	93	2		0	0	0	0	0	2	1	1	150	631	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHPRH	257218	broad.mit.edu	37	6	146275891	146275891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146275891C>A	ENST00000367505.2	-	2	832	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	SHPRH_ENST00000367503.3_Missense_Mutation_p.G190W|SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W|SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase			79		Ovarian(120;0.0365)			TGTAGCCACCCCAAATCTTCT	0.378000																								0							SO:0001583	missense			ENST00000367505.2	1	1	hg19	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945785	0.53079	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.66	4.68	0.58851	.	0.686958	0.14236	N	0.332375	T	0.41119	0.1145	L	0.36672	1.1	0.22317	N	0.999206	D;P;P;P	0.54964	0.969;0.911;0.947;0.83	P;B;P;B	0.49528	0.614;0.39;0.594;0.311	T	0.45498	-0.9257	10	0.66056	D	0.02	-5.7981	3.7092	0.08413	0.0:0.6591:0.0:0.3409	.	79;190;190;79	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	W	190;190;190;190;79	ENSP00000356475:G190W;ENSP00000356473:G190W;ENSP00000412797:G190W;ENSP00000275233:G190W	ENSP00000275233:G190W	G	-	1	0	SHPRH	146317584	0.997000	0.39634	0.960000	0.40013	0.600000	0.36913	4.332000	0.59279	2.672000	0.90937	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	1	0	1	71	351	0	75	1	7.099426e-01	6	8	0	75	2		0	0	0	0	0	2	1	1	68	342	0	75	2								-2.529705	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM1	2911	broad.mit.edu	37	6	146350781	146350781	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146350781G>T	ENST00000282753.1	+	1	363	c.128G>T	c.(127-129)gGa>gTa	p.G43V	GRM1_ENST00000492807.2_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000361719.2_Missense_Mutation_p.G43V|GRM1_ENST00000392299.2_Missense_Mutation_p.G43V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1			126		Ovarian(120;0.0387)			AGAATGGACGGAGATGTCATC	0.597000																								0							SO:0001583	missense			ENST00000282753.1	1	1	hg19	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637900	0.87760	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.94539	0.7743	10	0.87932	D	0	.	19.5425	0.95280	0.0:0.0:1.0:0.0	.	43;43;38;43	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	43	ENSP00000354896:G43V;ENSP00000376119:G43V;ENSP00000424095:G43V;ENSP00000282753:G43V;ENSP00000347437:G43V;ENSP00000425599:G43V	ENSP00000282753:G43V	G	+	2	0	GRM1	146392474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.619000	0.88677	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	1	139	609	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1	136	601	0	133	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM1	2911	broad.mit.edu	37	6	146625805	146625805	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146625805G>A	ENST00000282753.1	+	3	1244	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	GRM1_ENST00000492807.2_Missense_Mutation_p.G337R|GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000361719.2_Missense_Mutation_p.G337R|GRM1_ENST00000392299.2_Missense_Mutation_p.G337R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1			126		Ovarian(120;0.0387)			AGCCAACGGGGGAATCACGAT	0.473000																								0							SO:0001583	missense			ENST00000282753.1	1	1	hg19	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389791	0.95988	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	L	0.53249	1.67	0.80722	D	1	P;D;D	0.89917	0.929;1.0;0.999	P;D;D	0.97110	0.729;1.0;0.986	D	0.88521	0.3096	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	337;337;337	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	337	ENSP00000354896:G337R;ENSP00000376119:G337R;ENSP00000424095:G337R;ENSP00000282753:G337R;ENSP00000347437:G337R;ENSP00000425599:G337R	ENSP00000282753:G337R	G	+	1	0	GRM1	146667498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	1	24	152	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.999998e-01	24	148	0	40	2								-12.982750	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998816	0.990000	1	9.900000e-01	1
GRM1	2911	broad.mit.edu	37	6	146678707	146678707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146678707C>T	ENST00000282753.1	+	5	1714	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	GRM1_ENST00000492807.2_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000361719.2_Silent_p.D493D|GRM1_ENST00000392299.2_Silent_p.D493D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1			126		Ovarian(120;0.0387)			ATCGCTATGACTATGTGCACG	0.413000																								0							SO:0001819	synonymous_variant			ENST00000282753.1	1	1	hg19	CCDS5209.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	0	68	288	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	68	282	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM1	2911	broad.mit.edu	37	6	146720739	146720739	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720739T>G	ENST00000282753.1	+	7	2799	c.2564T>G	c.(2563-2565)gTt>gGt	p.V855G	GRM1_ENST00000492807.2_Missense_Mutation_p.V855G|GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000361719.2_Missense_Mutation_p.V855G|GRM1_ENST00000392299.2_Missense_Mutation_p.V855G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1			126		Ovarian(120;0.0387)			ACCTCTGATGTTGTCCGCATG	0.532000																								0							SO:0001583	missense			ENST00000282753.1	1	1	hg19	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323425	0.41096	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88586	-2.38;-2.4;-2.4;-2.38;-2.38;-2.4	5.68	5.68	0.88126	.	0.057513	0.64402	D	0.000001	D	0.84727	0.5536	M	0.79475	2.455	0.80722	D	1	B;P;P	0.39282	0.382;0.666;0.534	B;B;B	0.33339	0.149;0.162;0.149	D	0.87970	0.2736	10	0.72032	D	0.01	.	15.9149	0.79503	0.0:0.0:0.0:1.0	.	855;855;855	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	855	ENSP00000354896:V855G;ENSP00000376119:V855G;ENSP00000424095:V855G;ENSP00000282753:V855G;ENSP00000347437:V855G;ENSP00000425599:V855G	ENSP00000282753:V855G	V	+	2	0	GRM1	146762432	1.000000	0.71417	0.099000	0.21106	0.977000	0.68977	6.169000	0.71913	2.169000	0.68431	0.477000	0.44152	GTT		TCGA-IB-7651-01A-11D-2154-08	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	1	54	222	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	53	211	0	50	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB32	10981	broad.mit.edu	37	6	146865053	146865053	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146865053G>A	ENST00000367495.3	+	1	225	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family			8		Ovarian(120;0.142)			ggcggccgccgccccagcgcc	0.741000																								0							SO:0001583	missense			ENST00000367495.3	1	1	hg19	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341737	0.24339	.	.	ENSG00000118508	ENST00000367495	T	0.71934	-0.61	3.91	-2.18	0.07037	.	1.151740	0.06349	N	0.709584	T	0.18425	0.0442	N	0.16130	0.375	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.03139	-1.1068	10	0.10636	T	0.68	-0.0129	0.2257	0.00173	0.2899:0.1442:0.2731:0.2929	.	16	Q13637	RAB32_HUMAN	T	16	ENSP00000356465:A16T	ENSP00000356465:A16T	A	+	1	0	RAB32	146906746	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.855000	0.04125	-0.315000	0.08773	GCC		TCGA-IB-7651-01A-11D-2154-08	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	1	0	0	24	78	0	21	1	9.948618e-01	11	20	0	21	2		0	0	0	0	0	2	1	9.999999e-01	24	77	0	21	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
STXBP5	134957	broad.mit.edu	37	6	147560343	147560343	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147560343A>G	ENST00000321680.6	+	4	368	c.368A>G	c.(367-369)cAc>cGc	p.H123R	STXBP5_ENST00000367481.3_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R|STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			GACACCTTACACTTATGGAAT	0.348000																								0							SO:0001583	missense			ENST00000321680.6	1	1	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.850609	0.91277	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.62364	1.74;5.19;1.74;0.03	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.99;0.994	T	0.80845	-0.1200	10	0.56958	D	0.05	.	15.6	0.76616	1.0:0.0:0.0:0.0	.	123;123	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	R	123	ENSP00000356451:H123R;ENSP00000441479:H123R;ENSP00000321826:H123R;ENSP00000356450:H123R	ENSP00000321826:H123R	H	+	2	0	STXBP5	147602036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.724000	0.91462	2.152000	0.67230	0.460000	0.39030	CAC		TCGA-IB-7651-01A-11D-2154-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1	71	250	0	53	1	9.854902e-01	6	20	0	53	2		0	0	0	0	0	2	1	1	70	248	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP5	134957	broad.mit.edu	37	6	147581831	147581831	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147581831T>C	ENST00000321680.6	+	5	512	c.512T>C	c.(511-513)gTg>gCg	p.V171A	STXBP5_ENST00000367481.3_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A|STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			ATTGTCAATGTGGAGTCCTTC	0.383000																								0							SO:0001583	missense			ENST00000321680.6	1	1	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715895	0.68844	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.67171	1.49;4.94;1.49;-0.25	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.58428	1.81	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.76071	0.987;0.864	T	0.76788	-0.2830	10	0.56958	D	0.05	.	15.585	0.76475	0.0:0.0:0.0:1.0	.	171;171	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	A	171	ENSP00000356451:V171A;ENSP00000441479:V171A;ENSP00000321826:V171A;ENSP00000356450:V171A	ENSP00000321826:V171A	V	+	2	0	STXBP5	147623524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.071000	0.62044	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1	73	310	0	76	1	9.930423e-01	3	32	0	76	2		0	0	0	0	0	2	1	1	72	303	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP5	134957	broad.mit.edu	37	6	147632647	147632647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147632647G>A	ENST00000321680.6	+	11	1129	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	STXBP5_ENST00000367481.3_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N|STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			AGTACTTATAGACCTTGCACA	0.313000																								0							SO:0001583	missense			ENST00000321680.6	1	1	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284916	0.95517	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.27890	2.51;2.51;2.03;1.64	5.64	5.64	0.86602	WD40 repeat-like-containing domain (2);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.961;0.99;0.996	T	0.66999	-0.5781	10	0.87932	D	0	.	19.6979	0.96034	0.0:0.0:1.0:0.0	.	377;377;48	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	N	377;377;377;48	ENSP00000356451:D377N;ENSP00000321826:D377N;ENSP00000356450:D377N;ENSP00000179882:D48N	ENSP00000179882:D48N	D	+	1	0	STXBP5	147674340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.660000	0.90430	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1	31	162	0	46	1	9.872502e-01	7	32	0	46	2		0	0	0	0	0	2	1	1	30	161	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
STXBP5	134957	broad.mit.edu	37	6	147636794	147636794	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147636794C>A	ENST00000321680.6	+	15	1546	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	STXBP5_ENST00000367481.3_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M|STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			AAGTAGAATGCTGTGCATCGC	0.388000																								0							SO:0001583	missense			ENST00000321680.6	1	1	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966391	0.74131	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.74737	0.77;0.77;-0.87;-0.78	5.78	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.997	T	0.83308	-0.0024	10	0.54805	T	0.06	.	12.5036	0.55970	0.0:0.8648:0.0:0.1352	.	516;516;187	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	M	516;516;516;187	ENSP00000356451:L516M;ENSP00000321826:L516M;ENSP00000356450:L516M;ENSP00000179882:L187M	ENSP00000179882:L187M	L	+	1	2	STXBP5	147678487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.987000	0.40687	0.802000	0.34089	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	0	0	1	102	429	0	95	0	9.021737e-01	0	19	0	95	2		0	0	0	0	0	2	1	1	102	421	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP5	134957	broad.mit.edu	37	6	147680400	147680400	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147680400T>C	ENST00000321680.6	+	23	2486	c.2486T>C	c.(2485-2487)cTg>cCg	p.L829P	STXBP5_ENST00000367481.3_Missense_Mutation_p.L793P|STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P|STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			GTCATTGCACTGAACCTTCCC	0.483000																								0							SO:0001583	missense			ENST00000321680.6	1	1	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	t	24.0	4.478563	0.84747	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.58061	0.2096	M	0.80616	2.505	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.66497	0.944;0.943;0.937	T	0.66160	-0.5993	10	0.87932	D	0	.	15.4235	0.75031	0.0:0.0:0.0:1.0	.	793;829;484	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	P	168;793;829;776;484;153	ENSP00000356451:L793P;ENSP00000321826:L829P;ENSP00000356450:L776P;ENSP00000179882:L484P;ENSP00000376112:L153P	ENSP00000179882:L484P	L	+	2	0	STXBP5	147722093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.047000	0.60756	0.529000	0.55759	CTG		TCGA-IB-7651-01A-11D-2154-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1	48	348	0	60	1	9.939774e-01	7	52	0	60	2		0	0	0	0	0	2	1	1	48	341	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999553	0.990000	1	9.900000e-01	1
STXBP5	134957	broad.mit.edu	37	6	147684474	147684474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147684474C>T	ENST00000321680.6	+	24	2549	c.2549C>T	c.(2548-2550)aCt>aTt	p.T850I	STXBP5_ENST00000367481.3_Missense_Mutation_p.T814I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			ATTTTAGGTACTATATTGAGG	0.333000																								0							SO:0001583	missense			ENST00000321680.6	1	1	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066018	0.55539	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.79	5.79	0.91817	.	0.101850	0.64402	D	0.000003	T	0.20740	0.0499	M	0.65975	2.015	0.58432	D	0.999999	P;P;P	0.36222	0.465;0.544;0.544	B;B;B	0.34242	0.178;0.086;0.162	T	0.02411	-1.1163	10	0.35671	T	0.21	.	20.0313	0.97540	0.0:1.0:0.0:0.0	.	814;850;505	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	I	189;814;850;797;505;174	ENSP00000356451:T814I;ENSP00000321826:T850I;ENSP00000356450:T797I;ENSP00000179882:T505I;ENSP00000376112:T174I	ENSP00000179882:T505I	T	+	2	0	STXBP5	147726167	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.744000	0.55112	2.746000	0.94184	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	1	0	1	37	160	0	32	1	9.978397e-01	6	38	0	32	2		0	0	0	0	0	2	1	1	37	159	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
STXBP5	134957	broad.mit.edu	37	6	147694892	147694892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147694892C>T	ENST00000321680.6	+	26	3107	c.3107C>T	c.(3106-3108)cCt>cTt	p.P1036L	STXBP5_ENST00000367481.3_Missense_Mutation_p.P1000L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L|STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			CTCTTCACTCCTGTAGAAACA	0.353000																								0							SO:0001583	missense			ENST00000321680.6	1	1	hg19	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472193	0.63737	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.17854	2.33;2.25;2.45;2.89	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.46157	1.445	0.80722	D	1	B;B;B	0.17268	0.021;0.007;0.007	B;B;B	0.19148	0.013;0.024;0.024	T	0.06588	-1.0818	10	0.28530	T	0.3	.	14.9973	0.71443	0.0:0.9298:0.0:0.0702	.	1000;1036;691	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	L	1000;1036;983;691	ENSP00000356451:P1000L;ENSP00000321826:P1036L;ENSP00000356450:P983L;ENSP00000179882:P691L	ENSP00000179882:P691L	P	+	2	0	STXBP5	147736585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.651000	0.67951	2.705000	0.92388	0.585000	0.79938	CCT		TCGA-IB-7651-01A-11D-2154-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	0	0	1	53	263	0	62	0	9.136967e-01	1	22	0	62	2		0	0	0	0	0	2	1	1	52	258	0	60	2								-2.614670	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SASH1	23328	broad.mit.edu	37	6	148808758	148808758	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148808758A>G	ENST00000367467.3	+	8	1111	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1			52		Ovarian(120;0.0169)			AGCTCAAGGAATACGAGGCCC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000367467.3	1	1	hg19	CCDS5212.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	1	106	537	0	103	0	9.716120e-01	1	30	0	103	2		0	0	0	0	0	2	1	1	104	530	0	98	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SASH1	23328	broad.mit.edu	37	6	148852683	148852683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852683C>A	ENST00000367467.3	+	13	1925	c.1450C>A	c.(1450-1452)Cct>Act	p.P484T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1			52		Ovarian(120;0.0169)			TGATGGAATGCCTGGCTCCCC	0.537000																								0							SO:0001583	missense			ENST00000367467.3	1	1	hg19	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519488	0.85495	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.44881	0.91	5.43	5.43	0.79202	.	0.051988	0.85682	D	0.000000	T	0.50786	0.1636	L	0.39898	1.24	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.53034	-0.8495	10	0.66056	D	0.02	-16.1536	19.25	0.93921	0.0:1.0:0.0:0.0	.	465;484	Q6P4R9;O94885	.;SASH1_HUMAN	T	484;245	ENSP00000356437:P484T	ENSP00000356437:P484T	P	+	1	0	SASH1	148894376	1.000000	0.71417	0.171000	0.22900	0.073000	0.16967	4.652000	0.61454	2.560000	0.86352	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	0	18	278	0	81	0	7.787908e-01	1	45	0	81	2		0	0	0	0	0	2	1	9.999791e-01	18	269	0	80	2								-19.908250	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.710000	0.430000	1.000000	1.000000	0.723266	0.710000	0	5.600000e-01	8.800000e-01
SASH1	23328	broad.mit.edu	37	6	148852764	148852764	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852764C>A	ENST00000367467.3	+	13	2006	c.1531C>A	c.(1531-1533)Ctt>Att	p.L511I		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1			52		Ovarian(120;0.0169)			TGTAGAAAGTCTTCGCAGTTC	0.512000																								0							SO:0001583	missense			ENST00000367467.3	1	1	hg19	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217478	0.95104	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53206	0.63	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.71206	2.165	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65541	-0.6143	10	0.54805	T	0.06	-14.2685	19.0299	0.92952	0.0:1.0:0.0:0.0	.	492;511	Q6P4R9;O94885	.;SASH1_HUMAN	I	511;272	ENSP00000356437:L511I	ENSP00000356437:L511I	L	+	1	0	SASH1	148894457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.503000	0.84419	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	0	16	215	0	50	0	7.403206e-01	0	37	0	50	2		0	0	0	0	0	2	1	9.999406e-01	16	214	0	50	2								-19.769420	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.800000	0.480000	1.000000	1.000000	0.806297	0.800000	0	6.300000e-01	1
SASH1	23328	broad.mit.edu	37	6	148865211	148865211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865211C>T	ENST00000367467.3	+	18	3080	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1			52		Ovarian(120;0.0169)			ACCTGAAGTGCCACAGAAGAC	0.562000																								0							SO:0001583	missense			ENST00000367467.3	1	1	hg19	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632371	0.29068	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37752	1.18	5.36	5.36	0.76844	.	0.523656	0.21307	N	0.076714	T	0.18800	0.0451	L	0.51422	1.61	0.35065	D	0.761911	P;B	0.35077	0.483;0.278	B;B	0.27887	0.084;0.057	T	0.15636	-1.0430	10	0.59425	D	0.04	-14.3921	13.0516	0.58958	0.0:0.7884:0.2116:0.0	.	850;869	Q6P4R9;O94885	.;SASH1_HUMAN	S	869;630;279	ENSP00000356437:P869S	ENSP00000356437:P869S	P	+	1	0	SASH1	148906904	0.994000	0.37717	1.000000	0.80357	0.106000	0.19336	0.790000	0.26900	2.511000	0.84671	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	1	238	1047	0	274	1	9.995753e-01	7	44	0	274	2		0	0	0	0	0	2	1	1	235	1029	0	271	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SASH1	23328	broad.mit.edu	37	6	148865907	148865907	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865907C>A	ENST00000367467.3	+	18	3776	c.3301C>A	c.(3301-3303)Ctg>Atg	p.L1101M		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1			52		Ovarian(120;0.0169)			TGAAAACAAGCTGCACGCTGA	0.557000																								0							SO:0001583	missense			ENST00000367467.3	1	1	hg19	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622732	0.46840	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.59906	0.23	5.11	0.216	0.15258	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	N	0.20986	0.625	0.33179	D	0.549298	D;D	0.53312	0.959;0.959	P;P	0.47744	0.556;0.556	T	0.12760	-1.0535	10	0.51188	T	0.08	-9.1589	6.814	0.23820	0.1209:0.5368:0.0:0.3422	.	1082;1101	Q6P4R9;O94885	.;SASH1_HUMAN	M	1101;511	ENSP00000356437:L1101M	ENSP00000356437:L1101M	L	+	1	2	SASH1	148907600	0.996000	0.38824	0.481000	0.27354	0.759000	0.43091	0.410000	0.21098	0.107000	0.17824	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	1	0	1	11	46	0	18	1	9.983211e-01	6	46	0	18	2		0	0	0	0	0	2	1	9.987747e-01	11	45	0	17	2								-19.980860	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.997878	0.990000	1	9.900000e-01	1
TAB2	23118	broad.mit.edu	37	6	149699842	149699842	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149699842C>A	ENST00000367456.1	+	4	1368	c.791C>A	c.(790-792)cCt>cAt	p.P264H	TAB2_ENST00000538427.1_Missense_Mutation_p.P264H|TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H|TAB2_ENST00000536230.1_Missense_Mutation_p.P232H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2			22					GCATCTAATCCTCTGTCACAT	0.488000																								0							SO:0001583	missense			ENST00000367456.1	1	1	hg19	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037412	0.08148	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.78481	-1.18;-1.09;-1.14;-1.14;-1.14	6.16	6.16	0.99307	.	0.301553	0.37393	N	0.002105	T	0.55862	0.1947	L	0.29908	0.895	0.45076	D	0.998098	P;P	0.45283	0.855;0.855	B;B	0.37091	0.241;0.241	T	0.59573	-0.7429	10	0.13470	T	0.59	-7.5015	20.8598	0.99761	0.0:1.0:0.0:0.0	.	232;264	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	232;264;264;264;264	ENSP00000443206:P232H;ENSP00000376106:P264H;ENSP00000445752:P264H;ENSP00000356426:P264H;ENSP00000286332:P264H	ENSP00000286332:P264H	P	+	2	0	TAB2	149741535	0.999000	0.42202	0.416000	0.26546	0.002000	0.02628	5.594000	0.67557	2.937000	0.99478	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3	1	0	1	135	649	0	134	1	1	48	195	0	134	2		0	0	0	0	0	2	1	1	127	631	0	134	2								-3.233294	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LATS1	9113	broad.mit.edu	37	6	149982884	149982884	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149982884C>T	ENST00000543571.1	-	8	3921	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1			6		Ovarian(120;0.0164)			TACTAGATCGCGATTTTTAAT	0.353000																								0							SO:0001583	missense			ENST00000543571.1	1	1	hg19	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348251	0.41599	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.54479	0.57;0.57	5.65	4.76	0.60689	.	0.131649	0.34700	N	0.003744	T	0.13841	0.0335	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10245	-1.0638	9	.	.	.	.	10.7066	0.45958	0.0:0.7956:0.1334:0.071	.	1125	O95835	LATS1_HUMAN	H	1125	ENSP00000437550:R1125H;ENSP00000253339:R1125H	.	R	-	2	0	LATS1	150024577	0.994000	0.37717	0.878000	0.34440	0.938000	0.57974	2.613000	0.46351	1.345000	0.45676	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	1	0	1	72	432	0	109	1	9.665141e-01	7	28	0	109	2		0	0	0	0	0	2	1	1	71	425	0	109	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCMT1	5110	broad.mit.edu	37	6	150114741	150114741	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150114741C>T	ENST00000367380.5	+	5	561	c.354C>T	c.(352-354)gaC>gaT	p.D118D	PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000464889.1_Silent_p.D176D|RP11-350J20.5_ENST00000455607.2_RNA|PCMT1_ENST00000367384.2_Silent_p.D176D|PCMT1_ENST00000367378.1_Silent_p.D176D	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase			8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)		TAGTAGATGACTCAGTAAATA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000367380.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	47	212	0	47	1	1	101	274	0	47	2		0	0	0	0	0	2	1	1	46	206	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAET1L	154064	broad.mit.edu	37	6	150343282	150343282	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150343282A>C	ENST00000367341.1	-	2	182	c.183T>G	c.(181-183)ttT>ttG	p.F61L	RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L			5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)		CATAGTGAAGAAAAGTCTTTT	0.507000																								0							SO:0001583	missense			ENST00000367341.1	1	1	hg19	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	a	12.84	2.058711	0.36277	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.01295	5.04;5.04	1.91	0.704	0.18121	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01730	0.0055	M	0.75264	2.295	0.09310	N	1	D	0.60575	0.988	P	0.58391	0.838	T	0.44314	-0.9336	9	0.72032	D	0.01	.	3.7235	0.08466	0.7951:0.0:0.2049:0.0	.	61	Q5VY80	RET1L_HUMAN	L	61	ENSP00000356310:F61L;ENSP00000286380:F61L	ENSP00000286380:F61L	F	-	3	2	RAET1L	150384975	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-1.225000	0.02956	0.196000	0.20367	0.402000	0.26972	TTT		TCGA-IB-7651-01A-11D-2154-08	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	0	0	0	104	482	0	120	0	1.493903e-01	1	3	0	120	2		0	0	0	0	0	2	1	1	81	412	0	171	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IYD	389434	broad.mit.edu	37	6	150715331	150715331	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150715331C>T	ENST00000344419.3	+	4	767	c.627C>T	c.(625-627)gtC>gtT	p.V209V	IYD_ENST00000500320.3_Silent_p.V209V|IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V|IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000425615.3_Silent_p.V154V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase			15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)		AGAAAAAAGTCCACTACTACA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000344419.3	1	1	hg19	CCDS5227.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	0	1	60	339	1	99	1	1.696019e-01	3	2	1	99	2		0	0	0	0	0	2	1	1	60	335	1	98	15								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PLEKHG1	57480	broad.mit.edu	37	6	151125824	151125824	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151125824G>A	ENST00000358517.2	+	7	1070	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A287T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	p.A287T(1)		53			BRCA - Breast invasive adenocarcinoma(37;0.0923)		GCAGCGAGTCGCCTGGCATAT	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000358517.2	1	1	hg19	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.042648	0.97231	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82335	-0.0508	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	94;287;287	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	T	287	ENSP00000356297:A287T;ENSP00000351318:A287T	ENSP00000351318:A287T	A	+	1	0	PLEKHG1	151167517	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.731000	0.98807	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	1	0	1	66	248	0	48	1	9.996869e-01	8	40	0	48	2		0	0	0	0	0	2	1	1	64	246	0	47	2								-20.000000	1	1	121412	2	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHG1	57480	broad.mit.edu	37	6	151139352	151139352	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151139352C>T	ENST00000358517.2	+	11	1523	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	PLEKHG1_ENST00000367328.1_Splice_Site_p.H438Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1			53			BRCA - Breast invasive adenocarcinoma(37;0.0923)		GGATGCCATTCGTAAGTTTTA	0.303000																								0							SO:0001630	splice_region_variant			ENST00000358517.2	1	0	hg19	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887079	0.33348	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.87334	-2.24;-2.24	5.08	3.3	0.37823	Pleckstrin homology-type (1);	0.144593	0.64402	N	0.000007	T	0.65554	0.2702	L	0.27053	0.805	0.47276	D	0.999379	B;B;B	0.15141	0.012;0.007;0.007	B;B;B	0.13407	0.009;0.005;0.005	T	0.58803	-0.7572	10	0.26408	T	0.33	.	11.13	0.48341	0.0:0.7922:0.0:0.2078	.	245;438;438	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Y	438	ENSP00000356297:H438Y;ENSP00000351318:H438Y	ENSP00000351318:H438Y	H	+	1	0	PLEKHG1	151181045	0.956000	0.32656	0.996000	0.52242	0.935000	0.57460	1.891000	0.39738	0.660000	0.30964	-0.122000	0.15005	CAT		TCGA-IB-7651-01A-11D-2154-08	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	1	0	1	50	327	0	62	0	9.659650e-01	1	37	0	62	2		0	0	0	0	0	2	1	1	49	322	0	62	2								-3.318955	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
PLEKHG1	57480	broad.mit.edu	37	6	151144795	151144795	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151144795G>T	ENST00000358517.2	+	14	1664	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A485S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1			53			BRCA - Breast invasive adenocarcinoma(37;0.0923)		TTCAGAAACAGCACAAGACAT	0.338000																								0							SO:0001583	missense			ENST00000358517.2	1	1	hg19	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	4.945	0.175556	0.09391	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58506	0.33;0.33	5.42	-4.03	0.04021	.	1.159500	0.06084	N	0.662442	T	0.06371	0.0164	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.009	B;B;B	0.12156	0.002;0.007;0.007	T	0.11966	-1.0566	10	0.10111	T	0.7	.	5.5225	0.16941	0.4835:0.0:0.3012:0.2153	.	292;485;485	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	S	485	ENSP00000356297:A485S;ENSP00000351318:A485S	ENSP00000351318:A485S	A	+	1	0	PLEKHG1	151186488	0.000000	0.05858	0.046000	0.18839	0.959000	0.62525	-0.132000	0.10467	-0.714000	0.04975	-0.140000	0.14226	GCA		TCGA-IB-7651-01A-11D-2154-08	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	1	0	1	30	163	0	40	1	9.935736e-01	4	42	0	40	2		0	0	0	0	0	2	1	1	30	159	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999919	0.990000	1	9.900000e-01	1
PLEKHG1	57480	broad.mit.edu	37	6	151161984	151161984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151161984G>T	ENST00000358517.2	+	16	4321	c.4110G>T	c.(4108-4110)caG>caT	p.Q1370H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1370H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1			53			BRCA - Breast invasive adenocarcinoma(37;0.0923)		ATATTGTCCAGTCTCTAAGGG	0.373000																								0							SO:0001583	missense			ENST00000358517.2	1	1	hg19	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135406	0.77662	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.71461	-0.57;-0.57	5.7	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.68952	2.095	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81629	-0.0846	10	0.87932	D	0	.	13.7983	0.63184	0.0749:0.0:0.9251:0.0	.	1177;1370	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	H	1370	ENSP00000356297:Q1370H;ENSP00000351318:Q1370H	ENSP00000351318:Q1370H	Q	+	3	2	PLEKHG1	151203677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.333000	0.72939	1.369000	0.46134	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	1	0	1	78	413	0	112	1	9.999684e-01	7	74	0	112	2		0	0	0	0	0	2	1	1	76	405	0	111	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTHFD1L	25902	broad.mit.edu	37	6	151281474	151281474	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151281474G>A	ENST00000367321.3	+	18	2141	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like			29		Ovarian(120;0.128)			GGACAGCCTCGCAGACATGAA	0.592000																								0							SO:0001583	missense			ENST00000367321.3	1	1	hg19	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642014	0.29157	.	.	ENSG00000120254	ENST00000367321	T	0.22945	1.93	5.81	-11.6	0.00059	.	2.222680	0.01321	N	0.010929	T	0.04952	0.0133	L	0.52266	1.64	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.005	B;B;B	0.13407	0.007;0.009;0.005	T	0.15694	-1.0428	10	0.23302	T	0.38	.	4.4068	0.11413	0.1404:0.1292:0.5514:0.179	.	624;378;623	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	T	623	ENSP00000356290:A623T	ENSP00000356290:A623T	A	+	1	0	MTHFD1L	151323167	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-2.764000	0.00784	-3.388000	0.00173	0.460000	0.39030	GCA		TCGA-IB-7651-01A-11D-2154-08	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	1	0	1	39	167	0	40	1	1	40	97	0	40	2		0	0	0	0	0	2	1	1	39	166	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP12	9590	broad.mit.edu	37	6	151671445	151671445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151671445G>A	ENST00000253332.1	+	3	2108	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	AKAP12_ENST00000402676.2_Missense_Mutation_p.S640N|AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12			68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)		AAGGTCAAGAGCGCTACCTTG	0.512000													Melanoma(141;1616 1805 10049 24534 51979)											0							SO:0001583	missense			ENST00000253332.1	1	1	hg19	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269256	0.80469	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.15603	2.41;2.41;2.43;2.43	5.52	5.52	0.82312	.	0.000000	0.47093	D	0.000244	T	0.33265	0.0857	M	0.73962	2.25	0.42414	D	0.992611	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.989	T	0.03969	-1.0988	10	0.54805	T	0.06	.	14.6536	0.68817	0.0:0.1452:0.8548:0.0	.	535;542;640	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	640;640;542;535	ENSP00000384537:S640N;ENSP00000253332:S640N;ENSP00000346702:S542N;ENSP00000352794:S535N	ENSP00000253332:S640N	S	+	2	0	AKAP12	151713138	0.998000	0.40836	0.872000	0.34217	0.818000	0.46254	2.910000	0.48766	2.591000	0.87537	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	1	0	0	9	210	0	48	1	9.894395e-01	3	185	0	48	2		0	0	0	0	0	2	1	9.940181e-01	9	206	0	47	2								-11.393250	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.490000	0.240000	0.830000	0.470000	0.513051	0.490000	0	3.500000e-01	6.600000e-01
AKAP12	9590	broad.mit.edu	37	6	151672017	151672017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672017G>A	ENST00000253332.1	+	3	2680	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T	AKAP12_ENST00000402676.2_Missense_Mutation_p.A831T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	p.A831S(1)		68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)		TGTTGAAGACGCAGGGCCAAC	0.512000													Melanoma(141;1616 1805 10049 24534 51979)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000253332.1	1	1	hg19	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.176	0.792683	0.16327	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.9	-9.81	0.00487	.	1.928830	0.02486	N	0.089032	T	0.00936	0.0031	N	0.15975	0.35	0.09310	N	1	B;B;B	0.23891	0.093;0.093;0.056	B;B;B	0.10450	0.005;0.005;0.002	T	0.28902	-1.0029	10	0.12103	T	0.63	.	8.9057	0.35521	0.1667:0.0773:0.5969:0.1591	.	726;733;831	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	831;831;733;726	ENSP00000384537:A831T;ENSP00000253332:A831T;ENSP00000346702:A733T;ENSP00000352794:A726T	ENSP00000253332:A831T	A	+	1	0	AKAP12	151713710	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.241000	0.08940	-2.735000	0.00382	-0.895000	0.02911	GCA		TCGA-IB-7651-01A-11D-2154-08	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	1	0	1	152	760	0	164	1	1	18	179	0	164	2		0	0	0	0	0	2	1	1	150	749	0	162	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP12	9590	broad.mit.edu	37	6	151672727	151672727	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672727G>A	ENST00000253332.1	+	3	3390	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	AKAP12_ENST00000402676.2_Silent_p.Q1067Q|AKAP12_ENST00000359755.5_Silent_p.Q962Q|AKAP12_ENST00000354675.6_Silent_p.Q969Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12			68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)		ATGTGCTTCAGCCTGTGCAGA	0.552000													Melanoma(141;1616 1805 10049 24534 51979)											0							SO:0001819	synonymous_variant			ENST00000253332.1	1	1	hg19	CCDS5229.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	1	0	1	60	234	0	60	1	1	6	150	0	60	2		0	0	0	0	0	2	1	1	57	228	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB2	57621	broad.mit.edu	37	6	151687214	151687214	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687214G>A	ENST00000325144.4	-	3	1127	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2			12			BRCA - Breast invasive adenocarcinoma(37;0.175)		GCTGCCCATCGATGATGGGAG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000325144.4	1	1	hg19	CCDS5231.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	1	0	1	81	395	0	100	1	9.991338e-01	19	34	0	100	2		0	0	0	0	0	2	1	1	81	384	0	99	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB2	57621	broad.mit.edu	37	6	151687588	151687588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687588C>A	ENST00000325144.4	-	3	753	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2			12			BRCA - Breast invasive adenocarcinoma(37;0.175)		GAAACAAGTTCTGGAGACAGC	0.582000																								0							SO:0001587	stop_gained			ENST00000325144.4	0	1	hg19	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272898	0.95429	.	.	ENSG00000181472	ENST00000325144	.	.	.	5.35	4.47	0.54385	.	0.222278	0.46442	D	0.000293	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4356	15.4909	0.75605	0.1394:0.8606:0.0:0.0	.	.	.	.	X	205	.	ENSP00000323183:E205X	E	-	1	0	ZBTB2	151729281	1.000000	0.71417	0.462000	0.27118	0.995000	0.86356	5.102000	0.64572	1.243000	0.43853	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	1	0	0	50	277	0	72	1	9.999367e-01	12	70	0	72	2		0	0	0	0	0	2	1	1	50	275	0	70	2								-3.325929	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
RMND1	55005	broad.mit.edu	37	6	151766865	151766865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151766865G>T	ENST00000367303.4	-	2	204	c.82C>A	c.(82-84)Cta>Ata	p.L28I	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)			12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)		TTTAACATTAGATGACCGATT	0.418000																								0							SO:0001583	missense			ENST00000367303.4	1	1	hg19	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	G	8.615	0.890054	0.17540	.	.	ENSG00000155906	ENST00000367303	T	0.44881	0.91	5.22	4.34	0.51931	.	1.119980	0.06825	N	0.792876	T	0.16171	0.0389	N	0.14661	0.345	0.34761	D	0.732727	P;B	0.35982	0.531;0.165	B;B	0.38056	0.264;0.032	T	0.02208	-1.1195	10	0.35671	T	0.21	0.5621	12.0296	0.53390	0.0825:0.0:0.9175:0.0	.	28;28	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	I	28	ENSP00000356272:L28I	ENSP00000356272:L28I	L	-	1	2	RMND1	151808558	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.605000	0.24179	1.179000	0.42884	0.563000	0.77884	CTA		TCGA-IB-7651-01A-11D-2154-08	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	1	0	0	63	275	0	72	1	9.981657e-01	9	35	0	72	2		0	0	0	0	0	2	1	1	63	271	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ESR1	2099	broad.mit.edu	37	6	152415580	152415580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152415580G>T	ENST00000206249.3	+	7	1792	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L|ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000440973.1_Missense_Mutation_p.R477L|ESR1_ENST00000427531.2_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1			49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CATATCCACCGAGTCCTGGAC	0.557000																								0							SO:0001583	missense			ENST00000206249.3	1	1	hg19	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975929	0.18736	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.43	5.43	0.79202	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.415582	0.26903	N	0.021920	D	0.84343	0.5451	N	0.11673	0.155	0.80722	D	1	B;B;P;P;B;B;B	0.46656	0.005;0.003;0.681;0.882;0.003;0.001;0.001	B;B;B;B;B;B;B	0.39465	0.011;0.004;0.105;0.3;0.009;0.002;0.004	D	0.87067	0.2157	10	0.08599	T	0.76	.	14.1322	0.65263	0.0:0.0:0.8499:0.1501	.	42;172;216;404;476;477;477	B5LY05;C8CJL6;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	L	477;477;365;477;477;216;405	ENSP00000405330:R477L;ENSP00000342630:R477L;ENSP00000415934:R365L;ENSP00000387500:R477L;ENSP00000206249:R477L;ENSP00000384064:R216L	ENSP00000206249:R477L	R	+	2	0	ESR1	152457273	0.915000	0.31059	0.948000	0.38648	0.986000	0.74619	2.868000	0.48436	2.555000	0.86185	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1	0	0	1	103	477	1	117	0	8.459629e-02	0	3	1	117	2		0	0	0	0	0	2	1	1	102	466	1	117	17								-3.184859	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152457923	152457923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152457923C>T	ENST00000367255.5	-	141	26090	c.25489G>A	c.(25489-25491)Gcc>Acc	p.A8497T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		AGGATGATGGCTTTGCGGTGG	0.483000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812412	0.90707	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000078	T	0.59702	0.2213	M	0.73598	2.24	0.51012	D	0.999903	D;D;D;D;P	0.60160	0.987;0.987;0.984;0.987;0.553	P;P;P;P;B	0.58660	0.843;0.843;0.757;0.843;0.256	T	0.59043	-0.7528	10	0.44086	T	0.13	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	8497;8497;8449;8449;699	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	T	8497;652;1143;8449;8497;8449;8109;3021;682;677;1442;675	ENSP00000356224:A8497T;ENSP00000441052:A652T;ENSP00000356226:A1143T;ENSP00000396024:A8449T;ENSP00000265368:A8497T;ENSP00000390975:A8449T;ENSP00000341887:A8109T;ENSP00000349276:A3021T;ENSP00000356220:A1442T;ENSP00000346701:A675T	ENSP00000265368:A8497T	A	-	1	0	SYNE1	152499616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.886000	0.63149	2.623000	0.88846	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	67	351	0	98	1	9.998082e-01	3	65	0	98	2		0	0	0	0	0	2	1	1	64	342	0	97	2								-20.000000	1	1	121412	1	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152462355	152462355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152462355G>A	ENST00000367255.5	-	139	25830	c.25229C>T	c.(25228-25230)aCc>aTc	p.T8410I	SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		TTGGGTTTCGGTACTATGCAG	0.483000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035821	0.54896	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.54071	0.68;4.82;1.7;0.7;0.59;0.69;0.77;2.74;1.85;4.83	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000029	T	0.68026	0.2956	M	0.74881	2.28	0.40134	D	0.97675	D;D;D;D;B	0.71674	0.996;0.996;0.998;0.996;0.399	D;D;D;D;B	0.71414	0.94;0.94;0.973;0.94;0.265	T	0.64232	-0.6456	10	0.37606	T	0.19	.	20.1277	0.97990	0.0:0.0:1.0:0.0	.	8410;8410;8362;8362;612	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	8410;565;1056;8362;8410;8362;8022;2934;595;590;1355;588	ENSP00000356224:T8410I;ENSP00000441052:T565I;ENSP00000356226:T1056I;ENSP00000396024:T8362I;ENSP00000265368:T8410I;ENSP00000390975:T8362I;ENSP00000341887:T8022I;ENSP00000349276:T2934I;ENSP00000356220:T1355I;ENSP00000346701:T588I	ENSP00000265368:T8410I	T	-	2	0	SYNE1	152504048	1.000000	0.71417	0.039000	0.18376	0.534000	0.34807	6.160000	0.71862	2.755000	0.94549	0.563000	0.77884	ACC		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	96	491	0	95	1	9.999194e-01	2	69	0	95	2		0	0	0	0	0	2	1	1	95	485	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152476174	152476174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152476174G>A	ENST00000367255.5	-	133	24583	c.23982C>T	c.(23980-23982)atC>atT	p.I7994I	SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000265368.4_Silent_p.I7994I|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000423061.1_Silent_p.I7923I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		ACGTCTCTTCGATTCTGGGGC	0.478000										HNSCC(10;0.0054)														0							SO:0001819	synonymous_variant			ENST00000367255.5	1	1	hg19	CCDS5236.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	0	24	504	0	102	0	7.725142e-01	0	61	0	102	2		0	0	0	0	0	2	1	9.999996e-01	24	492	0	100	2								-3.196410	1	1	121412	2	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.530000	0.340000	0.750000	0.520000	0.542887	0.530000	0	4.300000e-01	6.400000e-01
SYNE1	23345	broad.mit.edu	37	6	152477184	152477184	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152477184G>T	ENST00000367255.5	-	132	24440	c.23839C>A	c.(23839-23841)Ctc>Atc	p.L7947I	SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		CACAGGTTGAGGACAGATGCA	0.512000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738670	0.89573	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.56	5.56	0.83823	.	0.000000	0.52532	D	0.000072	T	0.69869	0.3159	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.968	T	0.72500	-0.4274	10	0.59425	D	0.04	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	7947;7947;7876;7876;149	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7947;102;593;7876;7947;7876;7559;2471;109;104;869;102	ENSP00000356224:L7947I;ENSP00000441052:L102I;ENSP00000356226:L593I;ENSP00000396024:L7876I;ENSP00000265368:L7947I;ENSP00000390975:L7876I;ENSP00000341887:L7559I;ENSP00000349276:L2471I;ENSP00000356220:L869I;ENSP00000346701:L102I	ENSP00000265368:L7947I	L	-	1	0	SYNE1	152518877	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.722000	0.68485	2.771000	0.95319	0.650000	0.86243	CTC		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	65	299	0	78	0	9.730488e-01	1	28	0	78	2		0	0	0	0	0	2	1	1	64	296	0	78	2								-3.044019	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152485435	152485435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152485435C>T	ENST00000367255.5	-	131	24254	c.23653G>A	c.(23653-23655)Gta>Ata	p.V7885I	SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		TGCACGGCTACCAGGGTCTCC	0.552000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.180579	0.94846	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56275	0.57;0.68;1.45;0.58;0.47;0.58;0.68;2.6;1.62;0.68	5.44	5.44	0.79542	.	0.000000	0.49305	D	0.000154	T	0.62233	0.2411	M	0.63428	1.95	0.80722	D	1	P;P;D;D;B	0.55605	0.673;0.673;0.965;0.972;0.215	B;P;P;P;B	0.62298	0.39;0.6;0.839;0.9;0.188	T	0.58423	-0.7639	10	0.37606	T	0.19	.	19.2685	0.93998	0.0:1.0:0.0:0.0	.	7885;7885;7814;7814;87	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7885;40;531;7814;7885;7814;7497;2409;47;42;807;40	ENSP00000356224:V7885I;ENSP00000441052:V40I;ENSP00000356226:V531I;ENSP00000396024:V7814I;ENSP00000265368:V7885I;ENSP00000390975:V7814I;ENSP00000341887:V7497I;ENSP00000349276:V2409I;ENSP00000356220:V807I;ENSP00000346701:V40I	ENSP00000265368:V7885I	V	-	1	0	SYNE1	152527128	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	4.041000	0.57339	2.555000	0.86185	0.585000	0.79938	GTA		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	89	348	0	74	0	9.992308e-01	0	44	0	74	2		0	0	0	0	0	2	1	1	89	344	0	73	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152497616	152497616	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152497616C>A	ENST00000367255.5	-	130	24141	c.23540G>T	c.(23539-23541)aGc>aTc	p.S7847I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		GCTTTCATGGCTGGCTTTAGC	0.443000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906876	0.92107	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367251	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.67094	-0.5757	10	0.72032	D	0.01	.	19.9341	0.97130	0.0:1.0:0.0:0.0	.	7847;7847;7776;7776;49	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7847;493;7776;7847;7776;7459;2371;9;769	ENSP00000356224:S7847I;ENSP00000356226:S493I;ENSP00000396024:S7776I;ENSP00000265368:S7847I;ENSP00000390975:S7776I;ENSP00000341887:S7459I;ENSP00000349276:S2371I;ENSP00000356220:S769I	ENSP00000265368:S7847I	S	-	2	0	SYNE1	152539309	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.681000	0.84073	2.711000	0.92665	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	167	896	0	171	0	9.990563e-01	0	56	0	171	2		0	0	0	0	0	2	1	1	161	879	0	170	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152577893	152577893	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152577893C>A	ENST00000367255.5	-	102	19581	c.18980G>T	c.(18979-18981)aGc>aTc	p.S6327I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		ATTTGGCCTGCTATAAAGCTG	0.433000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280586	0.59758	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56776	0.53;0.52;0.44;0.53;0.65;2.55	5.29	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.57007	0.2024	M	0.67953	2.075	0.53005	D	0.999966	D;D;D	0.61080	0.981;0.981;0.989	P;P;P	0.58391	0.693;0.693;0.838	T	0.64373	-0.6423	10	0.72032	D	0.01	.	14.0829	0.64937	0.0:0.9269:0.0:0.0731	.	6327;6327;6256	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6327;6256;6327;6256;5939;851	ENSP00000356224:S6327I;ENSP00000396024:S6256I;ENSP00000265368:S6327I;ENSP00000390975:S6256I;ENSP00000341887:S5939I;ENSP00000349276:S851I	ENSP00000265368:S6327I	S	-	2	0	SYNE1	152619586	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	1.296000	0.33389	1.354000	0.45846	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	0	33	420	0	95	0	5.386536e-01	1	23	0	95	2		0	0	0	0	0	2	1	1	33	415	0	95	2								-8.624030	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.840000	0.590000	1.000000	1.000000	0.845239	0.840000	0	7.100000e-01	9.900000e-01
SYNE1	23345	broad.mit.edu	37	6	152642447	152642447	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152642447G>T	ENST00000367255.5	-	84	16763	c.16162C>A	c.(16162-16164)Ctt>Att	p.L5388I	SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		ATGGTATAAAGACCTAAGTAC	0.388000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623989	0.46840	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57273	0.5;0.5;0.41;0.5;0.48	5.47	4.6	0.57074	.	0.000000	0.50627	D	0.000102	T	0.49287	0.1548	M	0.70275	2.135	0.80722	D	1	P;P;P;P	0.45044	0.849;0.598;0.598;0.72	P;B;B;P	0.52217	0.693;0.411;0.411;0.616	T	0.52997	-0.8500	10	0.42905	T	0.14	.	9.3984	0.38417	0.0727:0.0:0.7852:0.1422	.	5388;5388;5388;5317	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	5388;5317;5388;5317;5061	ENSP00000356224:L5388I;ENSP00000396024:L5317I;ENSP00000265368:L5388I;ENSP00000390975:L5317I;ENSP00000341887:L5061I	ENSP00000265368:L5388I	L	-	1	0	SYNE1	152684140	1.000000	0.71417	0.634000	0.29324	0.879000	0.50718	2.872000	0.48467	1.299000	0.44798	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	38	172	0	43	0	6.694334e-01	0	12	0	43	2		0	0	0	0	0	2	1	1	38	173	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152647525	152647525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152647525C>T	ENST00000367255.5	-	79	15800	c.15199G>A	c.(15199-15201)Ggc>Agc	p.G5067S	SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		TCTTCTTTGCCGGTTGGCTTG	0.522000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.01	3.527783	0.64860	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.39	5.56	5.56	0.83823	.	0.231634	0.30244	N	0.010061	T	0.27798	0.0684	L	0.50333	1.59	0.80722	D	1	D;P;P;D	0.58268	0.982;0.935;0.935;0.961	P;B;B;B	0.46076	0.503;0.238;0.238;0.418	T	0.02269	-1.1185	10	0.18710	T	0.47	.	19.5248	0.95199	0.0:1.0:0.0:0.0	.	5067;5067;5067;4996	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	5067;4996;5067;4996;4814	ENSP00000356224:G5067S;ENSP00000396024:G4996S;ENSP00000265368:G5067S;ENSP00000390975:G4996S;ENSP00000341887:G4814S	ENSP00000265368:G5067S	G	-	1	0	SYNE1	152689218	0.994000	0.37717	0.514000	0.27761	0.811000	0.45836	6.047000	0.71038	2.621000	0.88768	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	74	293	0	84	0	8.604285e-01	1	15	0	84	2		0	0	0	0	0	2	1	1	71	284	0	84	2								-3.093256	1	1	121412	1	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152652132	152652132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652132G>T	ENST00000367255.5	-	78	14289	c.13688C>A	c.(13687-13689)tCt>tAt	p.S4563Y	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		ATGCTTCCTAGAAACCAAATT	0.383000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289456	0.40494	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.03	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.49440	0.1557	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.76575	0.988;0.956;0.956;0.98	T	0.55522	-0.8128	10	0.62326	D	0.03	.	16.7427	0.85464	0.0:0.0:0.8697:0.1303	.	4563;4563;4563;4492	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4563;4492;4563;4492	ENSP00000356224:S4563Y;ENSP00000396024:S4492Y;ENSP00000265368:S4563Y;ENSP00000390975:S4492Y	ENSP00000265368:S4563Y	S	-	2	0	SYNE1	152693825	1.000000	0.71417	0.868000	0.34077	0.993000	0.82548	8.062000	0.89475	1.544000	0.49359	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	177	772	0	173	0	3.869937e-01	0	7	0	173	2		0	0	0	0	0	2	1	1	175	754	0	173	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152652508	152652508	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652508T>C	ENST00000367255.5	-	78	13913	c.13312A>G	c.(13312-13314)Agt>Ggt	p.S4438G	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		ACTAAGTCACTGAGACAATTC	0.493000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409322	0.25378	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.84	3.48	0.39840	.	0.334922	0.29355	N	0.012386	T	0.11623	0.0283	L	0.39633	1.23	0.80722	D	1	B;B;B;B	0.14805	0.011;0.003;0.003;0.005	B;B;B;B	0.15484	0.005;0.006;0.006;0.013	T	0.08289	-1.0729	10	0.15499	T	0.54	.	9.7803	0.40645	0.0:0.1377:0.0:0.8623	.	4438;4438;4438;4367	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	4438;4367;4438;4367;4303	ENSP00000356224:S4438G;ENSP00000396024:S4367G;ENSP00000265368:S4438G;ENSP00000390975:S4367G;ENSP00000341887:S4303G	ENSP00000265368:S4438G	S	-	1	0	SYNE1	152694201	1.000000	0.71417	0.946000	0.38457	0.970000	0.65996	3.524000	0.53495	0.490000	0.27771	0.533000	0.62120	AGT		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	72	293	0	67	0	8.512339e-01	0	16	0	67	2		0	0	0	0	0	2	1	1	72	288	0	67	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152658135	152658135	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152658135G>A	ENST00000367255.5	-	76	12970	c.12369C>T	c.(12367-12369)gtC>gtT	p.V4123V	SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000265368.4_Silent_p.V4123V|SYNE1_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000423061.1_Silent_p.V4052V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		TCTGGGCCTGGACAAGCTTTT	0.423000										HNSCC(10;0.0054)														0							SO:0001819	synonymous_variant			ENST00000367255.5	1	1	hg19	CCDS5236.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	32	154	0	37	0	4.210193e-01	0	8	0	37	2		0	0	0	0	0	2	1	1	32	148	0	37	2								-18.790230	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152673222	152673222	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152673222A>G	ENST00000367255.5	-	70	12121	c.11520T>C	c.(11518-11520)caT>caC	p.H3840H	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.H3840H|SYNE1_ENST00000448038.1_Silent_p.H3825H|SYNE1_ENST00000423061.1_Silent_p.H3825H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		CTTCAGGAACATGTAGAATTT	0.378000										HNSCC(10;0.0054)														0							SO:0001819	synonymous_variant			ENST00000367255.5	0	1	hg19	CCDS5236.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	0	15	599	0	107	0	9.898455e-03	0	6	0	107	2		0	0	0	0	0	2	1	9.998610e-01	15	592	0	107	2								-3.443051	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.280000	0.160000	0.450000	0.280000	0.299363	0.280000	0	2.200000e-01	3.700000e-01
SYNE1	23345	broad.mit.edu	37	6	152676008	152676008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152676008G>A	ENST00000367255.5	-	67	11313	c.10712C>T	c.(10711-10713)gCt>gTt	p.A3571V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		AGACTCTAAAGCCCGGTCCTC	0.547000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500083	0.26861	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50813	0.73;1.37;0.73;1.37;0.73	5.21	-0.531	0.11894	.	0.649919	0.13988	N	0.349005	T	0.07728	0.0194	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.40040	-0.9584	10	0.25106	T	0.35	.	9.6035	0.39619	0.5823:0.0:0.4177:0.0	.	3571;3571;3571;3578	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	3571;3578;3571;3578;3542	ENSP00000356224:A3571V;ENSP00000396024:A3578V;ENSP00000265368:A3571V;ENSP00000390975:A3578V;ENSP00000341887:A3542V	ENSP00000265368:A3571V	A	-	2	0	SYNE1	152717701	0.000000	0.05858	0.066000	0.19879	0.993000	0.82548	0.116000	0.15561	0.018000	0.15052	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	152	683	0	166	0	3.025501e-01	0	6	0	166	2		0	0	0	0	0	2	1	1	149	669	0	165	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152683354	152683354	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152683354C>A	ENST00000367255.5	-	64	10851	c.10250G>T	c.(10249-10251)aGg>aTg	p.R3417M	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		CGCATGCTGCCTTTCTGATTC	0.483000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713306	0.30413	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.28	4.39	0.52855	.	0.096293	0.44285	D	0.000461	T	0.37461	0.1004	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.65815	0.992;0.992;0.992;0.995	P;P;P;P	0.61800	0.786;0.786;0.786;0.894	T	0.22173	-1.0224	10	0.46703	T	0.11	.	10.8188	0.46593	0.0:0.8525:0.0:0.1475	.	3417;3417;3417;3424	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	3417;3424;3417;3424	ENSP00000356224:R3417M;ENSP00000396024:R3424M;ENSP00000265368:R3417M;ENSP00000390975:R3424M	ENSP00000265368:R3417M	R	-	2	0	SYNE1	152725047	1.000000	0.71417	0.940000	0.37924	0.033000	0.12548	2.954000	0.49113	1.315000	0.45114	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	63	306	0	66	0	5.864536e-01	1	10	0	66	2		0	0	0	0	0	2	1	1	63	295	0	66	2								-3.180923	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152694260	152694260	+	Missense_Mutation	SNP	G	G	A	rs146402274		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152694260G>A	ENST00000367255.5	-	59	10020	c.9419C>T	c.(9418-9420)gCg>gTg	p.A3140V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		GATCCCTTTCGCTTTCTCTTT	0.398000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	11.51|11.51	1.658993|1.658993	0.29515|0.29515	9.08E-4|9.08E-4	0.0|0.0	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18;1.18|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.092885|.	0.46758|.	D|.	0.000271|.	T|.	0.56411|.	0.1983|.	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.29253|.	0.016;0.239;0.016;0.048|.	B;B;B;B|.	0.24269|.	0.006;0.052;0.006;0.013|.	T|.	0.50206|.	-0.8855|.	10|.	0.15066|.	T|.	0.55|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3140;257;3140;3147|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	V|X	3140;3147;3140;3147;3179|257	ENSP00000356224:A3140V;ENSP00000396024:A3147V;ENSP00000265368:A3140V;ENSP00000390975:A3147V;ENSP00000341887:A3179V|.	ENSP00000265368:A3140V|.	A|R	-|-	2|1	0|2	SYNE1|SYNE1	152735953|152735953	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.031000|0.031000	0.12232|0.12232	5.061000|5.061000	0.64319|0.64319	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	171	675	0	157	0	6.844131e-01	0	11	0	157	2		0	0	0	0	0	2	1	1	168	665	0	155	2								-20.000000	1	1	121412	9	46	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152697632	152697632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152697632G>A	ENST00000367255.5	-	58	9809	c.9208C>T	c.(9208-9210)Cga>Tga	p.R3070*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		AAGGCCTTTCGAAATCTTTGC	0.388000										HNSCC(10;0.0054)														0							SO:0001587	stop_gained			ENST00000367255.5	0	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711637	0.89112	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.71	3.87	0.44632	.	0.696895	0.13021	N	0.420059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.2997	0.66339	0.0:0.0:0.6123:0.3877	.	.	.	.	X	3070;3077;3070;3077;3109	.	ENSP00000265368:R3070X	R	-	1	2	SYNE1	152739325	1.000000	0.71417	0.880000	0.34516	0.904000	0.53231	4.425000	0.59875	0.714000	0.32081	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	45	235	0	56	0	5.001542e-01	0	10	0	56	2		0	0	0	0	0	2	1	1	45	232	0	56	2								-19.999520	1	1	121410	3	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152706910	152706910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152706910C>T	ENST00000367255.5	-	55	9152	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		TCTGTGAACTCGTGGACCGCA	0.393000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991900	0.54041	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56941	0.52;0.51;0.43;0.52;0.62	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000005	T	0.62744	0.2453	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.69479	0.883;0.922;0.922;0.964	T	0.56390	-0.7987	10	0.15952	T	0.53	.	19.4115	0.94675	0.0:1.0:0.0:0.0	.	2834;2851;2851;2858	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2851;2858;2851;2858;2890	ENSP00000356224:E2851K;ENSP00000396024:E2858K;ENSP00000265368:E2851K;ENSP00000390975:E2858K;ENSP00000341887:E2890K	ENSP00000265368:E2851K	E	-	1	0	SYNE1	152748603	1.000000	0.71417	0.840000	0.33206	0.050000	0.14768	7.463000	0.80869	2.599000	0.87857	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	99	534	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	96	526	0	122	2								-3.076932	1	1	121412	1	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152737755	152737755	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000265368.4_Silent_p.I1939I|SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000423061.1_Silent_p.I1946I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		CAGAGCTCCCGATTTTCAGAT	0.493000										HNSCC(10;0.0054)														0							SO:0001819	synonymous_variant			ENST00000367255.5	1	1	hg19	CCDS5236.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	0	90	446	0	100	0	0	0	1	0	100	2		0	0	0	0	0	2	1	1	89	439	0	100	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152738006	152738006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152738006C>T	ENST00000367255.5	-	41	6167	c.5566G>A	c.(5566-5568)Gcc>Acc	p.A1856T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		ACCTGGCTGGCCTCCTCAAAC	0.602000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904732	0.72868	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000007	T	0.41396	0.1157	M	0.64997	1.995	0.80722	D	1	P;D;D;D	0.62365	0.874;0.991;0.991;0.98	B;P;P;P	0.56960	0.223;0.78;0.78;0.81	T	0.32771	-0.9894	10	0.42905	T	0.14	.	15.7724	0.78180	0.0:0.935:0.0:0.065	.	1839;1856;1856;1863	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	1856;1863;1856;1863;1893	ENSP00000356224:A1856T;ENSP00000396024:A1863T;ENSP00000265368:A1856T;ENSP00000390975:A1863T;ENSP00000341887:A1893T	ENSP00000265368:A1856T	A	-	1	0	SYNE1	152779699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	1.623000	0.50342	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	90	353	0	85	0	0	0	1	0	85	2		0	0	0	0	0	2	1	1	90	345	0	84	2								-3.457028	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152749345	152749345	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749345C>A	ENST00000367255.5	-	37	5572	c.4971G>T	c.(4969-4971)tgG>tgT	p.W1657C	SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		CTCACCTCTGCCAGTGGGCCA	0.517000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639583	0.67244	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000029	T	0.71710	0.3372	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	T	0.72228	-0.4354	10	0.72032	D	0.01	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1640;1657;1657;1657;1664	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	C	1657;1664;1657;1664;1727;1657	ENSP00000356224:W1657C;ENSP00000396024:W1664C;ENSP00000265368:W1657C;ENSP00000390975:W1664C;ENSP00000341887:W1727C;ENSP00000356222:W1657C	ENSP00000265368:W1657C	W	-	3	0	SYNE1	152791038	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	224	1351	0	317	0	0	0	1	0	317	2		0	0	0	0	0	2	1	1	217	1331	0	316	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNE1	23345	broad.mit.edu	37	6	152749391	152749391	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749391C>A	ENST00000367255.5	-	37	5526	c.4925G>T	c.(4924-4926)aGg>aTg	p.R1642M	SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		CTCCTTCGCCCTCCTTAGGAT	0.532000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259821	0.23051	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.87	-11.7	0.00046	.	1.048510	0.07479	N	0.903606	T	0.11750	0.0286	N	0.08118	0	0.09310	N	0.999998	B;P;P;P;P	0.39131	0.291;0.661;0.606;0.661;0.474	B;B;B;B;B	0.43575	0.125;0.155;0.424;0.155;0.333	T	0.54543	-0.8278	10	0.46703	T	0.11	.	13.5599	0.61782	0.0625:0.1615:0.066:0.71	.	1625;1642;1642;1642;1649	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	M	1642;1649;1642;1649;1712;1642	ENSP00000356224:R1642M;ENSP00000396024:R1649M;ENSP00000265368:R1642M;ENSP00000390975:R1649M;ENSP00000341887:R1712M;ENSP00000356222:R1642M	ENSP00000265368:R1642M	R	-	2	0	SYNE1	152791084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-3.066000	0.00255	-0.782000	0.03352	AGG		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	0	31	1391	0	284		0	0	0	0	284	2		0	0	0	0	0	2	1	1	30	1363	0	281	2								-2.220873	0	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.250000	0.170000	0.350000	0.260000	0.260265	0.250000	0	2.000000e-01	3.000000e-01
SYNE1	23345	broad.mit.edu	37	6	152757165	152757165	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152757165C>T	ENST00000367255.5	-	33	4822	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P	SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000265368.4_Silent_p.P1407P|SYNE1_ENST00000448038.1_Silent_p.P1414P|SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000367248.3_Silent_p.P1397P|SYNE1_ENST00000423061.1_Silent_p.P1414P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		GGGGCCCAAGCGGTATCTCTG	0.403000										HNSCC(10;0.0054)														0							SO:0001819	synonymous_variant			ENST00000367255.5	1	1	hg19	CCDS5236.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	0	0	15	411	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	9.998577e-01	15	403	0	64	2								-3.106695	1	1	121412	2	37	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.410000	0.240000	0.640000	0.410000	0.429225	0.410000	0	3.100000e-01	5.300000e-01
SYNE1	23345	broad.mit.edu	37	6	152777048	152777048	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152777048C>A	ENST00000367255.5	-	23	3301	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		TATCTGCAATCTGTCTTTGTA	0.418000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581997|3.581997	0.65992|0.65992	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000341594|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T|T;T;T;T;T;T;T;T	0.48836|0.35789	0.8|1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.49|5.49	3.68|3.68	0.42216|0.42216	.|.	.|0.110333	.|0.39020	.|N	.|0.001484	T|T	0.21103|0.21103	0.0508|0.0508	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;B;P;P;P;B;B	.|0.44195	.|0.472;0.002;0.828;0.654;0.771;0.002;0.006	.|B;B;P;B;P;B;B	.|0.47705	.|0.173;0.002;0.555;0.431;0.532;0.002;0.01	T|T	0.02966|0.02966	-1.1088|-1.1088	7|10	0.59425|0.48119	D|T	0.04|0.1	.|.	7.4634|7.4634	0.27308|0.27308	0.0:0.6963:0.1475:0.1562|0.0:0.6963:0.1475:0.1562	.|.	.|883;900;467;890;900;900;907	.|B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.;.;.;.	Y|H	952|900;907;900;907;900;890;900;467	ENSP00000341887:D952Y|ENSP00000356224:Q900H;ENSP00000396024:Q907H;ENSP00000265368:Q900H;ENSP00000390975:Q907H;ENSP00000356222:Q900H;ENSP00000356217:Q890H;ENSP00000414510:Q900H;ENSP00000438508:Q467H	ENSP00000341887:D952Y|ENSP00000265368:Q900H	D|Q	-|-	1|3	0|2	SYNE1|SYNE1	152818741|152818741	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.927000|0.927000	0.56198|0.56198	0.487000|0.487000	0.22356|0.22356	1.297000|1.297000	0.44761|0.44761	0.655000|0.655000	0.94253|0.94253	GAT|CAG		TCGA-IB-7651-01A-11D-2154-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	0	41	373	0	55	0	0	0	1	0	55	2		0	0	0	0	0	2	1	1	41	364	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.840000	1.000000	1.000000	0.986071	0.990000	1	9.800000e-01	1
FBXO5	26271	broad.mit.edu	37	6	153296625	153296625	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296625A>G	ENST00000229758.3	-	2	293	c.235T>C	c.(235-237)Ttg>Ctg	p.L79L	FBXO5_ENST00000367241.3_Silent_p.L33L|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5			15		Ovarian(120;0.125)			GAACCTTCCAAATATGCAGGG	0.393000													NSCLC(121;372 1757 17721 17977 29669)											0							SO:0001819	synonymous_variant			ENST00000229758.3	1	1	hg19	CCDS5242.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1	0	0	0	16	503	0	117	0	2.442252e-01	1	28	0	117	2		0	0	0	0	0	2	1	9.999292e-01	16	498	0	117	2								-14.842810	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.360000	0.210000	0.550000	0.350000	0.375479	0.360000	0	2.800000e-01	4.600000e-01
FBXO5	26271	broad.mit.edu	37	6	153296711	153296711	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296711T>C	ENST00000229758.3	-	2	207	c.149A>G	c.(148-150)gAt>gGt	p.D50G	FBXO5_ENST00000367241.3_Missense_Mutation_p.D4G|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5			15		Ovarian(120;0.125)			ACAATTAAAATCACACTTCAT	0.353000													NSCLC(121;372 1757 17721 17977 29669)											0							SO:0001583	missense			ENST00000229758.3	1	1	hg19	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341237	0.60963	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.48836	0.8;0.93	5.4	1.63	0.23807	.	0.275036	0.33650	N	0.004693	T	0.18002	0.0432	L	0.56769	1.78	0.25130	N	0.990574	B	0.17667	0.023	B	0.14578	0.011	T	0.24440	-1.0160	10	0.33940	T	0.23	-9.9826	5.0346	0.14428	0.0:0.2207:0.1443:0.635	.	50	Q9UKT4	FBX5_HUMAN	G	50;4	ENSP00000229758:D50G;ENSP00000356210:D4G	ENSP00000229758:D50G	D	-	2	0	FBXO5	153338404	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	1.468000	0.35332	0.045000	0.15804	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1	1	0	1	77	299	0	106	1	8.110461e-01	2	12	0	106	2		0	0	0	0	0	2	1	1	74	295	0	105	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTRF1L	54516	broad.mit.edu	37	6	153315696	153315696	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153315696G>A	ENST00000367233.5	-	4	638	c.639C>T	c.(637-639)cgC>cgT	p.R213R	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.R177R|MTRF1L_ENST00000367231.5_Silent_p.R213R	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like			10		Ovarian(120;0.125)			TAGTATGGACGCGGCCTTGCT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000367233.5	1	1	hg19	CCDS5243.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	1	0	1	97	435	0	112	1	9.999978e-01	17	68	0	112	2		0	0	0	0	0	2	1	1	96	425	0	111	2								-20.000000	1	1	121412	6	40	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS17	26575	broad.mit.edu	37	6	153347642	153347642	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153347642C>T	ENST00000367225.2	-	2	180	c.156G>A	c.(154-156)gcG>gcA	p.A52A	RGS17_ENST00000206262.1_Silent_p.A52A			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	p.A52A(1)		14		Ovarian(120;0.126)			TGGGTCTTCCCGCATTTTCCC	0.388000													Esophageal Squamous(78;500 1236 6775 24364 49058)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000367225.2	1	1	hg19	CCDS5244.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2	1	0	1	97	507	0	100	0	2.516985e-01	0	6	0	100	2		0	0	0	0	0	2	1	1	93	497	0	99	2								-2.300790	0	1	121412	1	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGS17	26575	broad.mit.edu	37	6	153365061	153365061	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153365061A>C	ENST00000367225.2	-	1	117	c.93T>G	c.(91-93)tgT>tgG	p.C31W	RGS17_ENST00000206262.1_Missense_Mutation_p.C31W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17			14		Ovarian(120;0.126)			AACAGCACCAACAAAAGCAAC	0.507000													Esophageal Squamous(78;500 1236 6775 24364 49058)											0							SO:0001583	missense			ENST00000367225.2	1	1	hg19	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747915	0.30955	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.55052	0.54;0.54	5.29	0.471	0.16752	.	0.451574	0.30510	N	0.009476	T	0.59348	0.2187	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.61603	-0.7029	10	0.45353	T	0.12	-13.2255	9.7424	0.40427	0.5062:0.0:0.4938:0.0	.	31	Q9UGC6	RGS17_HUMAN	W	31	ENSP00000356194:C31W;ENSP00000206262:C31W	ENSP00000206262:C31W	C	-	3	2	RGS17	153406754	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.100000	0.31025	-0.022000	0.13986	0.377000	0.23210	TGT		TCGA-IB-7651-01A-11D-2154-08	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2	1	0	1	124	594	0	175	0	8.034586e-02	0	3	0	175	2		0	0	0	0	0	2	1	1	122	586	0	174	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JARID2	3720	broad.mit.edu	37	6	15410493	15410493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15410493G>T	ENST00000341776.2	+	3	464	c.220G>T	c.(220-222)Gca>Tca	p.A74S	JARID2_ENST00000541660.1_Missense_Mutation_p.A36S|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2			59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)			ATTAGGACCAGCATCAGAACA	0.463000																								0							SO:0001583	missense			ENST00000341776.2	1	1	hg19	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205312	0.58234	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.51574	0.7;1.41	5.48	5.48	0.80851	.	0.272597	0.36482	N	0.002569	T	0.12561	0.0305	N	0.02539	-0.55	0.80722	D	1	P;B	0.35872	0.525;0.001	B;B	0.35182	0.197;0.003	T	0.15780	-1.0425	10	0.15499	T	0.54	-6.656	17.5186	0.87781	0.0:0.0:1.0:0.0	.	36;74	F5H590;Q92833	.;JARD2_HUMAN	S	74;36	ENSP00000341280:A74S;ENSP00000444623:A36S	ENSP00000341280:A74S	A	+	1	0	JARID2	15518472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.670000	0.61583	2.579000	0.87056	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	0	0	0	14	478	0	122	0	1.351762e-01	0	21	0	122	2		0	0	0	0	0	2	1	9.997426e-01	14	473	0	122	2								-3.306849	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.330000	0.190000	0.520000	0.330000	0.347934	0.330000	0	2.500000e-01	4.300000e-01
OPRM1	4988	broad.mit.edu	37	6	154412127	154412127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154412127G>T	ENST00000330432.7	+	3	921	c.684G>T	c.(682-684)tgG>tgT	p.W228C	OPRM1_ENST00000414028.2_Missense_Mutation_p.W228C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1			33		Ovarian(120;0.196)		Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATCCAACCTGGTACTGGGAAA	0.398000																								0							SO:0001583	missense			ENST00000330432.7	1	1	hg19	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503709	0.64298	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;0.997;0.98;0.946;0.998;0.997;0.998;0.997;0.993	D;P;P;D;D;D;P;D;D;D;D;P	0.91635	0.999;0.887;0.887;0.999;0.936;0.932;0.886;0.936;0.932;0.927;0.936;0.887	T	0.52689	-0.8542	10	0.39692	T	0.17	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	228;228;228;228;321;147;128;228;228;228;228;228	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	C	321;128;147;228;228;228;228;228;228;228;228;228;228;128;128	ENSP00000394624:W321C;ENSP00000430876:W128C;ENSP00000430260:W147C;ENSP00000328264:W228C;ENSP00000353598:W228C;ENSP00000411903:W228C;ENSP00000410497:W228C;ENSP00000229768:W228C;ENSP00000403549:W228C;ENSP00000430097:W228C;ENSP00000399359:W228C;ENSP00000413752:W228C;ENSP00000338381:W228C;ENSP00000429719:W128C;ENSP00000429373:W128C	ENSP00000229768:W228C	W	+	3	0	OPRM1	154453820	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	1	0	1	117	572	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1	114	557	1	129	18								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JARID2	3720	broad.mit.edu	37	6	15468794	15468794	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15468794G>T	ENST00000341776.2	+	5	759	c.515G>T	c.(514-516)aGc>aTc	p.S172I	JARID2_ENST00000541660.1_Missense_Mutation_p.S134I|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	p.S172I(1)		59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)			CTGCCCAACAGCATGGTGTAT	0.473000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000341776.2	1	1	hg19	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712770	0.68730	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000541660	T;T	0.36157	1.27;1.27	4.94	1.69	0.24217	.	0.209292	0.47852	D	0.000207	T	0.13157	0.0319	L	0.27053	0.805	0.80722	D	1	P;P;P	0.49559	0.925;0.694;0.694	P;B;B	0.44990	0.466;0.368;0.189	T	0.03268	-1.1054	10	0.66056	D	0.02	-4.0147	5.499	0.16819	0.6353:0.0:0.3647:0.0	.	134;36;172	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	I	36;172;134	ENSP00000341280:S172I;ENSP00000444623:S134I	ENSP00000341280:S172I	S	+	2	0	JARID2	15576773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.041000	0.49807	0.504000	0.28082	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	1	0	1	40	258	0	76	1	9.734712e-01	10	30	0	76	2		0	0	0	0	0	2	1	1	40	245	0	72	2								-18.339930	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999827	0.990000	1	9.900000e-01	1
CNKSR3	154043	broad.mit.edu	37	6	154727608	154727608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154727608C>T	ENST00000607772.1	-	13	2092	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	CNKSR3_ENST00000433165.2_Silent_p.T341T|CNKSR3_ENST00000479339.1_Silent_p.T436T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3			15		Ovarian(120;0.196)			GGAATGGAATCGTGGCGCTGC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000607772.1	1	1	hg19	CCDS5246.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	1	0	1	104	533	0	116	1	9.856236e-01	11	25	0	116	2		0	0	0	0	0	2	1	1	100	522	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNKSR3	154043	broad.mit.edu	37	6	154743640	154743640	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154743640C>A	ENST00000607772.1	-	9	1489	c.945G>T	c.(943-945)caG>caT	p.Q315H	CNKSR3_ENST00000433165.2_Splice_Site_p.Q140H|CNKSR3_ENST00000479339.1_Splice_Site_p.Q235H	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3			15		Ovarian(120;0.196)			TCCCAGATACCTGTACAAGAG	0.438000																								0							SO:0001630	splice_region_variant			ENST00000607772.1	1	0	hg19	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330836	0.60853	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	T;T;T;T	0.52983	1.22;0.64;0.64;0.76	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.54323	1.7	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	T	0.54016	-0.8356	9	.	.	.	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	315	Q6P9H4	CNKR3_HUMAN	H	90;315;140;235;77;140	ENSP00000356182:Q315H;ENSP00000414185:Q140H;ENSP00000418975:Q235H;ENSP00000406740:Q140H	.	Q	-	3	2	CNKSR3	154785332	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.416000	0.80143	2.656000	0.90262	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	1	0	1	118	477	0	169	1	9.980872e-01	13	27	0	169	2		0	0	0	0	0	2	1	1	117	463	0	168	2								-3.422952	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JARID2	3720	broad.mit.edu	37	6	15497082	15497082	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15497082C>T	ENST00000341776.2	+	7	1870	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	JARID2_ENST00000541660.1_Silent_p.A504A|JARID2_ENST00000397311.3_Silent_p.A370A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2			59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)			CGGGCAAGGCCGAGAAGGGCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000341776.2	1	1	hg19	CCDS4533.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	1	0	1	27	160	0	27	1	8.747829e-01	3	21	0	27	2		0	0	0	0	0	2	1	9.999999e-01	26	147	0	23	2								-20.000000	1	1	121252	1	36	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999586	0.990000	1	9.900000e-01	1
TIAM2	26230	broad.mit.edu	37	6	155465849	155465849	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155465849G>T	ENST00000461783.3	+	8	3013	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D|TIAM2_ENST00000456144.1_Missense_Mutation_p.E580D|TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2			65		Ovarian(120;0.196)			CTGTTCCAGAGCATCCCAAGA	0.463000																								0							SO:0001583	missense			ENST00000461783.3	0	1	hg19	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.348982	0.61183	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.81	-3.92	0.04155	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	L	0.42581	1.335	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.988;0.993	T	0.77384	-0.2608	10	0.54805	T	0.06	.	14.7676	0.69651	0.5628:0.0:0.4372:0.0	.	580;580	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	D	580;826;580;580;580;580;580	ENSP00000437188:E580D;ENSP00000434901:E580D;ENSP00000407746:E580D;ENSP00000327315:E580D;ENSP00000353528:E580D;ENSP00000433348:E580D	ENSP00000327315:E580D	E	+	3	2	TIAM2	155507541	0.977000	0.34250	0.233000	0.24025	0.698000	0.40448	0.222000	0.17699	-0.729000	0.04875	-1.057000	0.02308	GAG		TCGA-IB-7651-01A-11D-2154-08	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	0	0	0	10	477	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	9.969411e-01	10	477	0	79	2								-3.204781	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.240000	0.120000	0.410000	0.240000	0.258683	0.240000	0	1.700000e-01	3.300000e-01
TIAM2	26230	broad.mit.edu	37	6	155572061	155572061	+	Silent	SNP	G	G	A	rs145496334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155572061G>A	ENST00000461783.3	+	24	5239	c.3966G>A	c.(3964-3966)tcG>tcA	p.S1322S	TIAM2_ENST00000360366.4_Silent_p.S1346S|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000318981.5_Silent_p.S1322S|TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000529824.2_Silent_p.S1351S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2			65		Ovarian(120;0.196)			CAGAACTTTCGATGGGAGAGC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000461783.3	1	1	hg19	CCDS34558.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	0	0	1	114	497	0	122	0	5.838196e-01	1	9	0	122	2		0	0	0	0	0	2	1	1	113	492	0	122	2								-3.423039	1	1	121412	8	43	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOX3	50508	broad.mit.edu	37	6	155752006	155752006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155752006G>A	ENST00000159060.2	-	8	964	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3			45		Breast(66;0.0183)			TGTTGAAATCGCCAGAACCTA	0.363000																								0							SO:0001587	stop_gained			ENST00000159060.2	0	1	hg19	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	37	6.535245	0.97646	.	.	ENSG00000074771	ENST00000159060	.	.	.	5.86	4.97	0.65823	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9666	13.3395	0.60537	0.0:0.0:0.5566:0.4434	.	.	.	.	X	288	.	ENSP00000159060:R288X	R	-	1	2	NOX3	155793698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	1.560000	0.49568	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1	1	0	0	27	284	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	27	278	0	46	2								-9.509459	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.680000	1.000000	1.000000	0.938064	0.990000	1	8.300000e-01	1
ARID1B	57492	broad.mit.edu	37	6	157495196	157495196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157495196C>T	ENST00000350026.5	+	10	3042	c.3041C>T	c.(3040-3042)cCt>cTt	p.P1014L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1027L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)			81		Breast(66;0.000162)|Ovarian(120;0.0265)			CTGCCCCTGCCTCTCAAAGCA	0.498000																								0							SO:0001583	missense			ENST00000350026.5	1	1	hg19	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852213	0.71719	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.51	5.51	0.81932	.	0.454996	0.24059	N	0.041940	T	0.44932	0.1317	L	0.36672	1.1	0.58432	D	0.999991	P;P;P;P	0.48764	0.465;0.915;0.617;0.465	B;P;B;B	0.45071	0.178;0.468;0.242;0.178	T	0.40213	-0.9575	10	0.39692	T	0.17	.	19.4168	0.94704	0.0:1.0:0.0:0.0	.	264;1014;1027;956	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	1027;1014;1014;956;431;483;436;81	ENSP00000344546:P1027L;ENSP00000055163:P1014L;ENSP00000356116:P1014L;ENSP00000275248:P956L;ENSP00000412835:P483L;ENSP00000313006:P436L;ENSP00000383596:P81L	ENSP00000275248:P956L	P	+	2	0	ARID1B	157536888	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.976000	0.63785	2.601000	0.87937	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1	34	250	0	84	1	9.996317e-01	15	76	0	84	2		0	0	0	0	0	2	1	1	34	245	0	83	2								-3.142796	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.980000	1.000000	1.000000	0.998187	0.990000	1	9.900000e-01	1
ARID1B	57492	broad.mit.edu	37	6	157505566	157505566	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157505566C>A	ENST00000350026.5	+	12	3509	c.3508C>A	c.(3508-3510)Cct>Act	p.P1170T	ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1183T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)			81		Breast(66;0.000162)|Ovarian(120;0.0265)			GCCGCCATCTCCTGGTAAGTG	0.632000																								0							SO:0001583	missense			ENST00000350026.5	1	1	hg19	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022586	0.93462	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.33865	4.49;4.48;4.5;4.52;4.15;2.07;1.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.51857	-0.8652	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	420;1170;1183;1165	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	T	1183;1170;1223;1165;640;692;645;237	ENSP00000344546:P1183T;ENSP00000055163:P1170T;ENSP00000356116:P1223T;ENSP00000275248:P1165T;ENSP00000412835:P692T;ENSP00000313006:P645T;ENSP00000383596:P237T	ENSP00000275248:P1165T	P	+	1	0	ARID1B	157547258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.793000	0.96121	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	0	38	184	0	35	1	9.999998e-01	28	95	0	35	2		0	0	0	0	0	2	1	1	37	182	0	35	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ARID1B	57492	broad.mit.edu	37	6	157522258	157522258	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157522258C>T	ENST00000350026.5	+	17	4492	c.4491C>T	c.(4489-4491)agC>agT	p.S1497S	ARID1B_ENST00000275248.4_Silent_p.S1492S|ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000346085.5_Silent_p.S1510S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)			81		Breast(66;0.000162)|Ovarian(120;0.0265)			ATCATGAGAGCCAGTGGCCTT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000350026.5	1	1	hg19	CCDS5251.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1	107	485	0	117	1	9.999999e-01	15	89	0	117	2		0	0	0	0	0	2	1	1	105	475	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARID1B	57492	broad.mit.edu	37	6	157525014	157525014	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157525014T>C	ENST00000350026.5	+	18	4871	c.4870T>C	c.(4870-4872)Tgg>Cgg	p.W1624R	ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W1637R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)			81		Breast(66;0.000162)|Ovarian(120;0.0265)			TCCTGAGGCGTGGCGTGTGAT	0.403000																								0							SO:0001583	missense			ENST00000350026.5	1	1	hg19	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288410	0.59976	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.03386	4.36;4.4;4.33;4.37;3.95	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.01084	-1.1457	10	0.87932	D	0	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	1624;1637;1619	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1637;1624;1677;1619;1146	ENSP00000344546:W1637R;ENSP00000055163:W1624R;ENSP00000356116:W1677R;ENSP00000275248:W1619R;ENSP00000412835:W1146R	ENSP00000275248:W1619R	W	+	1	0	ARID1B	157566706	1.000000	0.71417	0.924000	0.36721	0.897000	0.52465	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	TGG		TCGA-IB-7651-01A-11D-2154-08	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1	437	1786	0	509	1	1	17	87	0	509	2		0	0	0	0	0	2	1	1	425	1746	0	504	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARID1B	57492	broad.mit.edu	37	6	157528312	157528312	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157528312T>C	ENST00000350026.5	+	19	5999	c.5998T>C	c.(5998-6000)Tgg>Cgg	p.W2000R	ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000346085.5_Missense_Mutation_p.W2013R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)			81		Breast(66;0.000162)|Ovarian(120;0.0265)			AGATGAGTGGTGGTGGGACTG	0.542000																								0							SO:0001583	missense			ENST00000350026.5	1	1	hg19	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530980	0.45073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.28	5.28	0.74379	.	0.055533	0.85682	D	0.000000	T	0.47040	0.1424	M	0.82630	2.6	0.80722	D	1	P;P;P	0.40931	0.733;0.687;0.687	B;B;B	0.42112	0.376;0.259;0.259	T	0.59705	-0.7404	10	0.87932	D	0	.	15.5073	0.75750	0.0:0.0:0.0:1.0	.	2000;2013;1995	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	2013;2000;2053;1995;1522	ENSP00000344546:W2013R;ENSP00000055163:W2000R;ENSP00000356116:W2053R;ENSP00000275248:W1995R;ENSP00000412835:W1522R	ENSP00000275248:W1995R	W	+	1	0	ARID1B	157570004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.247000	0.72411	2.117000	0.64856	0.460000	0.39030	TGG		TCGA-IB-7651-01A-11D-2154-08	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	1	0	1	67	329	0	62	1	1	33	106	0	62	2		0	0	0	0	0	2	1	1	64	323	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX9	51429	broad.mit.edu	37	6	158349734	158349734	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158349734C>T	ENST00000392185.3	+	12	1459	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9			20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)			CTGCACGGGCCGTAAGTCCAC	0.597000																								0							SO:0001630	splice_region_variant			ENST00000392185.3	1	0	hg19	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709995	0.30322	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.43688	0.94	4.89	4.89	0.63831	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38222	-0.9671	10	0.06365	T	0.9	-14.4141	18.0411	0.89319	0.0:1.0:0.0:0.0	.	430	Q9Y5X1	SNX9_HUMAN	S	430;430;230	ENSP00000376024:P430S	ENSP00000252631:P230S	P	+	1	0	SNX9	158269722	1.000000	0.71417	0.978000	0.43139	0.189000	0.23516	4.415000	0.59809	2.263000	0.75096	0.467000	0.42956	CCA		TCGA-IB-7651-01A-11D-2154-08	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1	1	0	1	13	60	0	14	1	1	23	371	0	14	2		0	0	0	0	0	2	1	9.997027e-01	13	60	0	13	2								-19.999910	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998370	0.990000	1	9.900000e-01	1
SYNJ2	8871	broad.mit.edu	37	6	158495692	158495692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158495692C>T	ENST00000355585.4	+	16	2289	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SYNJ2_ENST00000367122.2_Silent_p.V738V|SYNJ2_ENST00000367121.3_Silent_p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2			46					ATGAAGAAGTCTTCTATTTTG	0.333000																								0							SO:0001819	synonymous_variant			ENST00000355585.4	1	1	hg19	CCDS5254.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2	1	0	1	100	327	0	82	1	9.877703e-01	5	20	0	82	2		0	0	0	0	0	2	1	1	99	322	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNJ2	8871	broad.mit.edu	37	6	158516726	158516726	+	Missense_Mutation	SNP	C	C	T	rs140216302		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158516726C>T	ENST00000355585.4	+	27	3896	c.3821C>T	c.(3820-3822)gCc>gTc	p.A1274V	SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2			46					AGCGTTGAGGCCCCTCCTGTC	0.562000																								0							SO:0001583	missense			ENST00000355585.4	1	1	hg19	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357158	0.24598	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92545	-3.04;-3.06;0.87	5.39	2.45	0.29901	.	0.912726	0.09482	N	0.796209	T	0.70254	0.3203	N	0.19112	0.55	0.09310	N	1	B;B	0.25955	0.138;0.138	B;B	0.21151	0.033;0.033	T	0.59037	-0.7529	10	0.35671	T	0.21	.	5.2339	0.15436	0.257:0.5452:0.125:0.0729	.	669;1274	B4DLC4;O15056	.;SYNJ2_HUMAN	V	1229;1274;359	ENSP00000356089:A1229V;ENSP00000347792:A1274V;ENSP00000356079:A359V	ENSP00000347792:A1274V	A	+	2	0	SYNJ2	158436714	0.000000	0.05858	0.031000	0.17742	0.026000	0.11368	0.360000	0.20250	-0.230000	0.09840	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2	1	0	1	89	382	0	100	1	9.989521e-01	7	39	0	100	2		0	0	0	0	0	2	1	1	87	373	0	98	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERAC1	84947	broad.mit.edu	37	6	158549279	158549279	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158549279G>A	ENST00000367104.3	-	10	1007	c.876C>T	c.(874-876)atC>atT	p.I292I	SERAC1_ENST00000367101.1_Silent_p.I292I|SERAC1_ENST00000367102.2_Silent_p.I292I	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1			15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)			CATTTGCTTCGATTTTATCAC	0.433000																								0							SO:0001819	synonymous_variant			ENST00000367104.3	1	1	hg19	CCDS5255.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	1	0	1	107	470	0	129	1	9.921740e-01	7	28	0	129	2		0	0	0	0	0	2	1	1	104	462	0	128	2								-3.319148	1	1	121410	2	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERAC1	84947	broad.mit.edu	37	6	158564142	158564142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158564142C>A	ENST00000367104.3	-	8	815	c.684G>T	c.(682-684)caG>caT	p.Q228H	SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H|SERAC1_ENST00000367102.2_Missense_Mutation_p.Q228H	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1			15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)			ATGTAAAATACTGGATACACT	0.393000																								0							SO:0001583	missense			ENST00000367104.3	1	1	hg19	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319136	0.60524	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.48201	0.82;0.82;0.82	5.79	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.159951	0.56097	D	0.000022	T	0.48003	0.1476	M	0.63428	1.95	0.52501	D	0.999957	D	0.76494	0.999	D	0.66497	0.944	T	0.52034	-0.8629	10	0.87932	D	0	-11.4575	7.6555	0.28373	0.0:0.6056:0.0:0.3944	.	228	Q96JX3	SRAC1_HUMAN	H	228	ENSP00000356069:Q228H;ENSP00000356071:Q228H;ENSP00000356068:Q228H	ENSP00000356068:Q228H	Q	-	3	2	SERAC1	158484130	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.136000	0.31467	0.439000	0.26476	0.455000	0.32223	CAG		TCGA-IB-7651-01A-11D-2154-08	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	1	0	1	65	276	0	92	1	9.836957e-01	4	26	0	92	2		0	0	0	0	0	2	1	1	65	271	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERAC1	84947	broad.mit.edu	37	6	158569911	158569911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158569911C>T	ENST00000367104.3	-	5	472	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000367102.2_Missense_Mutation_p.R114Q|SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1			15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)			AAATGGATTCCGCAGTATCTT	0.338000																								0							SO:0001583	missense			ENST00000367104.3	1	1	hg19	CCDS5255.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.225	0.803387	0.16397	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.63417	-0.04;-0.04;-0.04	5.61	0.821	0.18799	.	0.420066	0.27219	N	0.020379	T	0.36276	0.0961	M	0.68317	2.08	0.18873	N	0.999982	B	0.20671	0.047	B	0.10450	0.005	T	0.36040	-0.9764	10	0.28530	T	0.3	-3.3088	9.8395	0.40991	0.0:0.6572:0.0:0.3428	.	114	Q96JX3	SRAC1_HUMAN	Q	114	ENSP00000356069:R114Q;ENSP00000356071:R114Q;ENSP00000356068:R114Q	ENSP00000356068:R114Q	R	-	2	0	SERAC1	158489899	0.686000	0.27661	0.081000	0.20488	0.354000	0.29330	0.546000	0.23284	1.379000	0.46325	0.585000	0.79938	CGG		TCGA-IB-7651-01A-11D-2154-08	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	1	0	1	30	151	0	32	1	9.788638e-01	6	28	0	32	2		0	0	0	0	0	2	1	1	30	147	0	32	2								-2.905229	1	1	121408	3	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
SERAC1	84947	broad.mit.edu	37	6	158579383	158579383	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158579383C>T	ENST00000367104.3	-	2	144	c.13G>A	c.(13-15)Gct>Act	p.A5T	SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T|SERAC1_ENST00000367102.2_Missense_Mutation_p.A5T|SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1			15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)			ACGCAATAAGCAGCCAGGGAC	0.378000																								0							SO:0001583	missense			ENST00000367104.3	1	1	hg19	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884059	0.72410	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.41400	1.0;1.0;1.0	4.79	3.92	0.45320	.	0.217298	0.47852	D	0.000220	T	0.32585	0.0834	M	0.73598	2.24	0.45733	D	0.998636	P	0.49635	0.926	P	0.46917	0.531	T	0.17258	-1.0375	10	0.87932	D	0	-13.9732	7.8583	0.29495	0.1606:0.752:0.0:0.0874	.	5	Q96JX3	SRAC1_HUMAN	T	5	ENSP00000356069:A5T;ENSP00000356071:A5T;ENSP00000356068:A5T	ENSP00000356068:A5T	A	-	1	0	SERAC1	158499371	0.998000	0.40836	0.977000	0.42913	0.996000	0.88848	0.717000	0.25851	-0.016000	0.14127	0.460000	0.39030	GCT		TCGA-IB-7651-01A-11D-2154-08	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	1	0	1	56	279	0	79	1	9.677672e-01	6	24	0	79	2		0	0	0	0	0	2	1	1	56	272	0	79	2								-20.000000	1	1	121412	1	28	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TULP4	56995	broad.mit.edu	37	6	158735144	158735144	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158735144G>A	ENST00000367097.3	+	1	1453	c.96G>A	c.(94-96)gaG>gaA	p.E32E	TULP4_ENST00000367094.2_Silent_p.E32E|RP11-732M18.3_ENST00000432358.1_lincRNA	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4			49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)			GTGAGAAGGAGAAGCCTGTGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000367097.3	1	1	hg19	CCDS34561.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	1	56	220	0	34	1	9.592653e-01	5	18	0	34	2		0	0	0	0	0	2	1	1	55	216	0	34	2								-3.443647	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TULP4	56995	broad.mit.edu	37	6	158870179	158870179	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158870179C>T	ENST00000367097.3	+	4	2052	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4			49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)			GAGAGCGACACGGACTCAGAT	0.577000																								0							SO:0001583	missense			ENST00000367097.3	1	1	hg19	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520788	0.64747	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.03607	3.87;3.87	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.108926	0.64402	D	0.000008	T	0.01940	0.0061	L	0.51422	1.61	0.36864	D	0.888589	P;B;P	0.40534	0.487;0.145;0.72	B;B;B	0.25759	0.015;0.035;0.063	T	0.58228	-0.7673	10	0.31617	T	0.26	-24.0194	18.9309	0.92564	0.0:1.0:0.0:0.0	.	232;232;232	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	M	232	ENSP00000356064:T232M;ENSP00000356061:T232M	ENSP00000356061:T232M	T	+	2	0	TULP4	158790167	1.000000	0.71417	0.413000	0.26509	0.981000	0.71138	5.921000	0.70028	2.484000	0.83849	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	1	63	375	0	119	1	9.231776e-01	3	25	0	119	2		0	0	0	0	0	2	1	1	60	364	0	119	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TULP4	56995	broad.mit.edu	37	6	158900854	158900854	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158900854C>T	ENST00000367097.3	+	7	2455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	TULP4_ENST00000367094.2_Silent_p.Y366Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4			49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)			CAGCCCTGTACGTGGTGCGTG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000367097.3	1	1	hg19	CCDS34561.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	1	67	326	0	72	1	9.192237e-01	2	21	0	72	2		0	0	0	0	0	2	1	1	67	320	0	71	2								-20.000000	1	1	121412	5	37	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TULP4	56995	broad.mit.edu	37	6	158923474	158923474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158923474C>T	ENST00000367097.3	+	13	4136	c.2779C>T	c.(2779-2781)Ctc>Ttc	p.L927F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4			49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)			CACCTTGAGGCTCACGGCCAC	0.687000																								0							SO:0001583	missense			ENST00000367097.3	1	1	hg19	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999019	0.35226	.	.	ENSG00000130338	ENST00000367097	T	0.63255	-0.03	4.82	2.89	0.33648	.	0.189697	0.46758	D	0.000263	T	0.34571	0.0902	L	0.40543	1.245	0.80722	D	1	P	0.35383	0.498	B	0.33620	0.167	T	0.42050	-0.9474	10	0.87932	D	0	-24.6158	8.4255	0.32727	0.3675:0.4241:0.2084:0.0	.	927	Q9NRJ4	TULP4_HUMAN	F	927	ENSP00000356064:L927F	ENSP00000356064:L927F	L	+	1	0	TULP4	158843462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.231000	0.43009	1.140000	0.42260	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	1	0	0	84	406	0	109	0	7.865549e-01	0	16	0	109	2		0	0	0	0	0	2	1	1	81	397	0	109	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYTL3	94120	broad.mit.edu	37	6	159084345	159084345	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159084345C>T	ENST00000297239.9	+	3	239	c.45C>T	c.(43-45)cgC>cgT	p.R15R	SYTL3_ENST00000360448.3_Silent_p.R15R|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	p.R15R(1)		20		Breast(66;0.000776)|Ovarian(120;0.0303)			AGTTAGAACGCGAGGCCATTC	0.552000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000297239.9	1	1	hg19	CCDS56458.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1	1	0	0	24	254	0	55	0	6.107869e-01	1	22	0	55	2		0	0	0	0	0	2	1	9.999997e-01	23	250	0	55	2								-3.318794	1	1	121412	1	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.660000	1.000000	1.000000	0.932294	0.990000	1	8.200000e-01	1
SYTL3	94120	broad.mit.edu	37	6	159178308	159178308	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178308G>A	ENST00000297239.9	+	13	1397	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SYTL3_ENST00000360448.3_Silent_p.T333T|SYTL3_ENST00000367081.3_Silent_p.T127T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3			20		Breast(66;0.000776)|Ovarian(120;0.0303)			ATCTGGGCACGCTGGCCCGGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000297239.9	1	1	hg19	CCDS56458.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1	1	0	1	42	178	0	38	1	9.992836e-01	7	42	0	38	2		0	0	0	0	0	2	1	1	41	176	0	38	2								-3.439049	1	0	121412	2	31	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYTL3	94120	broad.mit.edu	37	6	159178373	159178373	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178373G>A	ENST00000297239.9	+	13	1462	c.1268G>A	c.(1267-1269)aGc>aAc	p.S423N	SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N|SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3			20		Breast(66;0.000776)|Ovarian(120;0.0303)			TTTGAAGACAGCACAACACAG	0.557000																								0							SO:0001583	missense			ENST00000297239.9	1	1	hg19	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394752	0.42512	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.62941	3.15;3.15;-0.01	5.07	2.29	0.28610	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.697915	0.14583	N	0.310734	T	0.28732	0.0712	L	0.53249	1.67	0.09310	N	1	B;B;B	0.21071	0.051;0.017;0.03	B;B;B	0.15484	0.01;0.007;0.013	T	0.22661	-1.0210	10	0.12766	T	0.61	.	7.9026	0.29744	0.4606:0.0:0.5394:0.0	.	149;423;355	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	N	355;423;423;149	ENSP00000353631:S355N;ENSP00000297239:S423N;ENSP00000356048:S149N	ENSP00000297239:S423N	S	+	2	0	SYTL3	159098361	0.739000	0.28196	0.000000	0.03702	0.442000	0.32017	1.354000	0.34056	0.538000	0.28769	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1	1	0	0	24	359	0	64	1	8.492437e-01	4	49	0	64	2		0	0	0	0	0	2	1	9.999997e-01	24	354	0	62	2								-6.592246	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.720000	0.480000	1.000000	1.000000	0.741097	0.720000	0	5.900000e-01	8.800000e-01
TAGAP	117289	broad.mit.edu	37	6	159457286	159457286	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159457286G>T	ENST00000367066.3	-	10	2100	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H	RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein			23		Breast(66;0.000776)|Ovarian(120;0.0303)			TGGGCTTCCAGGCCTCTCCCA	0.632000																								0							SO:0001583	missense			ENST00000367066.3	1	1	hg19	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436674	0.83885	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.71222	-0.45;-0.55	5.54	5.54	0.83059	.	0.075686	0.56097	D	0.000030	D	0.82291	0.5005	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.84171	0.0434	10	0.87932	D	0	-13.9202	19.077	0.93167	0.0:0.0:1.0:0.0	.	590	Q8N103	TAGAP_HUMAN	H	590;412;255	ENSP00000356033:P590H;ENSP00000322650:P412H	ENSP00000322650:P412H	P	-	2	0	TAGAP	159377274	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	5.734000	0.68580	2.595000	0.87683	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	1	0	1	78	361	0	80	0	9.682000e-01	0	28	0	80	2		0	0	0	0	0	2	1	1	76	355	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FNDC1	84624	broad.mit.edu	37	6	159642721	159642721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159642721G>T	ENST00000297267.9	+	6	959	c.759G>T	c.(757-759)aaG>aaT	p.K253N	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	p.K253N(1)		93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			CAAAGCGAAAGATTTCAGGTA	0.473000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000297267.9	1	1	hg19	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.468197|2.468197	0.43839|0.43839	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08807	.|3.05;3.99	6.17|6.17	1.98|1.98	0.26296|0.26296	.|Fibronectin, type III (1);	.|0.111909	.|0.64402	.|D	.|0.000011	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.36672|0.36672	1.1|1.1	0.28380|0.28380	N|N	0.919585|0.919585	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.975	T|T	0.15093|0.15093	-1.0449|-1.0449	5|10	.|0.46703	.|T	.|0.11	-34.0927|-34.0927	6.5326|6.5326	0.22336|0.22336	0.5231:0.0:0.4769:0.0|0.5231:0.0:0.4769:0.0	.|.	.|253;253	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	Y|N	212|253	.|ENSP00000297267:K253N;ENSP00000342460:K253N	.|ENSP00000297267:K253N	D|K	+|+	1|3	0|2	FNDC1|FNDC1	159562709|159562709	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.810000|0.810000	0.45777|0.45777	1.578000|1.578000	0.36525|0.36525	0.492000|0.492000	0.27815|0.27815	0.655000|0.655000	0.94253|0.94253	GAT|AAG		TCGA-IB-7651-01A-11D-2154-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1	43	154	0	46	0	9.999995e-01	0	85	0	46	2		0	0	0	0	0	2	1	1	43	153	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FNDC1	84624	broad.mit.edu	37	6	159644586	159644586	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159644586G>A	ENST00000297267.9	+	7	993	c.793G>A	c.(793-795)Gac>Aac	p.D265N	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1			93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			TGTACCTGACGACATCAGCGT	0.483000																								0							SO:0001583	missense			ENST00000297267.9	1	1	hg19	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.315|7.315	0.615763|0.615763	0.14129|0.14129	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.52057|.	0.68;0.68|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61974|0.61974	0.2390|0.2390	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.55218|0.55218	-0.8175|-0.8175	10|5	0.24483|.	T|.	0.36|.	-40.2157|-40.2157	20.3242|20.3242	0.98691|0.98691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	265;265|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	N|Q	265|223	ENSP00000297267:D265N;ENSP00000342460:D265N|.	ENSP00000297267:D265N|.	D|R	+|+	1|2	0|0	FNDC1|FNDC1	159564574|159564574	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.087000|0.087000	0.18053|0.18053	9.055000|9.055000	0.93873|0.93873	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1	22	119	0	34	0	9.977063e-01	0	56	0	34	2		0	0	0	0	0	2	1	9.999992e-01	21	117	0	34	2								-3.367194	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999576	0.990000	1	9.900000e-01	1
FNDC1	84624	broad.mit.edu	37	6	159647514	159647514	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159647514C>T	ENST00000297267.9	+	9	1282	c.1082C>T	c.(1081-1083)aCa>aTa	p.T361I	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1			93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			GCCCCTACCACAGCTCCTGAA	0.438000																								0							SO:0001583	missense			ENST00000297267.9	0	1	hg19	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836532	0.50951	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.54675	0.56;3.96	5.54	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.178634	0.47093	D	0.000256	T	0.36276	0.0961	L	0.46157	1.445	0.30456	N	0.774782	P;P	0.52842	0.956;0.876	P;P	0.51016	0.656;0.637	T	0.43766	-0.9371	10	0.62326	D	0.03	-5.3003	5.4101	0.16344	0.1226:0.5707:0.2298:0.0769	.	361;361	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	I	361	ENSP00000297267:T361I;ENSP00000342460:T361I	ENSP00000297267:T361I	T	+	2	0	FNDC1	159567502	0.988000	0.35896	0.985000	0.45067	0.996000	0.88848	3.207000	0.51106	1.483000	0.48342	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1	10	64	0	18	0	9.745330e-01	0	44	0	18	2		0	0	0	0	0	2	1	9.973693e-01	10	63	0	18	2								-17.755450	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.790000	1.000000	1.000000	0.985806	0.990000	1	9.900000e-01	1
FNDC1	84624	broad.mit.edu	37	6	159653575	159653575	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159653575G>A	ENST00000297267.9	+	11	2231	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	FNDC1_ENST00000340366.6_Silent_p.P614P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1			93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			GCCAGTCCCCGTCCAGCGTTC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000297267.9	1	1	hg19	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	5.566	0.289340	0.10513	0.0	1.22E-4	ENSG00000164694	ENST00000329629	.	.	.	4.79	-0.683	0.11335	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36625	-0.9740	4	.	.	.	-0.2902	4.3537	0.11167	0.0:0.3712:0.3191:0.3097	.	.	.	.	I	573	.	.	V	+	1	0	FNDC1	159573565	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.725000	0.04942	-0.380000	0.07894	-0.133000	0.14855	GTC		TCGA-IB-7651-01A-11D-2154-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1	45	191	0	46	0	9.125064e-01	0	20	0	46	2		0	0	0	0	0	2	1	1	45	183	0	43	2								-3.228548	1	1	120474	1	28	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FNDC1	84624	broad.mit.edu	37	6	159654115	159654115	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654115C>A	ENST00000297267.9	+	11	2771	c.2571C>A	c.(2569-2571)gcC>gcA	p.A857A	FNDC1_ENST00000340366.6_Silent_p.A794A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1			93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			CCTCCCGAGCCCACCCCAGGG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000297267.9	1	1	hg19	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223786	0.09863	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.0	-2.74	0.05932	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	-3.3958	6.0495	0.19777	0.0:0.286:0.4831:0.2309	.	.	.	.	T	753	.	.	P	+	1	0	FNDC1	159574105	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.894000	0.04123	-0.518000	0.06452	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1	24	67	0	15	0	9.994270e-01	0	38	0	15	2		0	0	0	0	0	2	1	9.999999e-01	22	65	0	14	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FNDC1	84624	broad.mit.edu	37	6	159654596	159654596	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654596G>A	ENST00000297267.9	+	11	3252	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1			93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			GCACCACCCGGGACCCCAGAG	0.721000																								0							SO:0001583	missense			ENST00000297267.9	0	1	hg19	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.158991|2.158991	0.38119|0.38119	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08102	.|3.13;3.95	4.33|4.33	-1.78|-1.78	0.07957|0.07957	.|.	1.212080|1.212080	0.05915|0.05915	N|N	0.632382|0.632382	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24368	.|0.102;0.062	.|B;B	.|0.21151	.|0.033;0.015	T|T	0.47497|0.47497	-0.9113|-0.9113	6|10	.|0.14656	.|T	.|0.56	-1.4918|-1.4918	8.5689|8.5689	0.33556|0.33556	0.6941:0.0:0.3059:0.0|0.6941:0.0:0.3059:0.0	.|.	.|955;1018	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	E|R	913|1018;955	.|ENSP00000297267:G1018R;ENSP00000342460:G955R	.|ENSP00000297267:G1018R	G|G	+|+	2|1	0|0	FNDC1|FNDC1	159574586|159574586	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.074000|0.074000	0.17049|0.17049	0.050000|0.050000	0.14120|0.14120	-0.150000|-0.150000	0.11195|0.11195	-0.291000|-0.291000	0.09656|0.09656	GGG|GGA		TCGA-IB-7651-01A-11D-2154-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	0	11	41	0	8	0	9.983278e-01	0	48	0	8	2		0	0	0	0	0	2	1	9.989461e-01	11	41	0	8	2								-19.996060	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998562	0.990000	1	9.900000e-01	1
FNDC1	84624	broad.mit.edu	37	6	159672509	159672509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159672509C>T	ENST00000297267.9	+	17	5210	c.5010C>T	c.(5008-5010)tgC>tgT	p.C1670C	FNDC1_ENST00000340366.6_Silent_p.C1607C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1			93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			TGGAAGGTTGCCACTCATTTG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000297267.9	1	1	hg19	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126630	0.20959	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.51	3.64	0.41730	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46303	-0.9201	4	.	.	.	-25.3864	9.9334	0.41537	0.0:0.7665:0.0:0.2335	.	.	.	.	S	1566	.	.	P	+	1	0	FNDC1	159592499	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	0.426000	0.21363	1.264000	0.44198	0.585000	0.79938	CCA		TCGA-IB-7651-01A-11D-2154-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1	17	104	0	34	0	9.996479e-01	0	86	0	34	2		0	0	0	0	0	2	1	9.999699e-01	17	100	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.970000	1.000000	1.000000	0.997068	0.990000	1	9.900000e-01	1
FNDC1	84624	broad.mit.edu	37	6	159687142	159687142	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159687142G>A	ENST00000297267.9	+	21	5511	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1			93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			GATCCCATTCGCTTTCAAACA	0.483000																								0							SO:0001583	missense			ENST00000297267.9	1	1	hg19	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.248751|2.248751	0.39797|0.39797	0.0|0.0	1.2E-4|1.2E-4	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.42131|.	0.98;0.98|.	5.87|5.87	0.12|0.12	0.14691|0.14691	.|.	0.495402|.	0.22578|.	N|.	0.058260|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.02011|0.02011	-0.69|-0.69	0.28659|0.28659	N|N	0.906227|0.906227	B|.	0.29037|.	0.231|.	B|.	0.15484|.	0.013|.	T|T	0.43475|0.43475	-0.9389|-0.9389	9|5	.|.	.|.	.|.	-10.6041|-10.6041	5.6712|5.6712	0.17723|0.17723	0.2619:0.0:0.4937:0.2444|0.2619:0.0:0.4937:0.2444	.|.	1771|.	Q4ZHG4|.	FNDC1_HUMAN|.	T|H	1771;1708|1666	ENSP00000297267:A1771T;ENSP00000342460:A1708T|.	.|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159607132|159607132	0.982000|0.982000	0.34865|0.34865	0.989000|0.989000	0.46669|0.46669	0.952000|0.952000	0.60782|0.60782	0.344000|0.344000	0.19962|0.19962	0.057000|0.057000	0.16193|0.16193	0.650000|0.650000	0.86243|0.86243	GCT|CGC		TCGA-IB-7651-01A-11D-2154-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1	26	228	0	48	0	9.983172e-01	0	90	0	48	2		0	0	0	0	0	2	1	9.999999e-01	26	223	0	48	2								-8.041726	1	1	120928	11	40	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.800000	1.000000	1.000000	0.982048	0.990000	1	9.700000e-01	1
WTAP	9589	broad.mit.edu	37	6	160164713	160164713	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160164713C>A	ENST00000358372.4	+	5	1919	c.162C>A	c.(160-162)ggC>ggA	p.G54G	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.G54G	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein			18		Breast(66;0.000776)|Ovarian(120;0.0303)			ATGTAACTGGCCTAAGAGAGT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000358372.4	0	1	hg19	CCDS5266.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	0	0	0	6	262	0	37	1	9.932609e-01	20	404	0	37	2		0	0	0	0	0	2	1	9.638031e-01	6	258	0	36	2								-3.298241	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.270000	0.110000	0.520000	0.260000	0.295499	0.270000	0	1.800000e-01	4.000000e-01
PNLDC1	154197	broad.mit.edu	37	6	160225117	160225117	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160225117C>T	ENST00000610273.1	+	5	507	c.336C>T	c.(334-336)aaC>aaT	p.N112N	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Silent_p.N123N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1			31		Breast(66;0.00519)|Ovarian(120;0.123)			TCAACTATAACAAGGTATGGC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000610273.1	1	1	hg19	CCDS5271.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	34	680	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	1	34	655	0	144	2								-5.433063	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.550000	0.390000	0.740000	0.550000	0.564073	0.550000	0	4.600000e-01	6.500000e-01
PNLDC1	154197	broad.mit.edu	37	6	160238156	160238156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160238156C>T	ENST00000610273.1	+	15	1268	c.1097C>T	c.(1096-1098)gCa>gTa	p.A366V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A377V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1			31		Breast(66;0.00519)|Ovarian(120;0.123)			TTGAAAGTGGCACACTTGCTT	0.388000																								0							SO:0001583	missense			ENST00000610273.1	1	1	hg19	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020294	0.75275	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.05	5.05	0.67936	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000008	T	0.58623	0.2135	L	0.29908	0.895	0.47698	D	0.999493	D;D	0.89917	0.998;1.0	D;D	0.74674	0.969;0.984	T	0.62718	-0.6795	9	0.56958	D	0.05	.	16.5757	0.84637	0.0:1.0:0.0:0.0	.	377;366	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	V	366;377	.	ENSP00000275275:A366V	A	+	2	0	PNLDC1	160158146	0.995000	0.38212	0.917000	0.36280	0.953000	0.61014	4.185000	0.58330	2.518000	0.84900	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	44	460	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	1	44	455	0	74	2								-12.729660	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.750000	1.000000	1.000000	0.953312	0.990000	1	8.700000e-01	1
PNLDC1	154197	broad.mit.edu	37	6	160240289	160240289	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160240289G>A	ENST00000610273.1	+	18	1575	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	PNLDC1_ENST00000392167.3_Silent_p.A479A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1			31		Breast(66;0.00519)|Ovarian(120;0.123)			TTGGCAGTGCGCGGAACATCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000610273.1	1	1	hg19	CCDS5271.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	8	222	0	43	0	9.375499e-03	0	4	0	43	2		0	0	0	0	0	2	1	9.891647e-01	8	219	0	43	2								-9.736993	1	1	121412	2	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.410000	0.190000	0.730000	0.390000	0.440634	0.410000	0	2.900000e-01	5.800000e-01
IGF2R	3482	broad.mit.edu	37	6	160455500	160455500	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160455500A>C	ENST00000356956.1	+	10	1409	c.1261A>C	c.(1261-1263)Agc>Cgc	p.S421R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor			95		Breast(66;0.000777)|Ovarian(120;0.0305)		Mecasermin(DB01277)	TGATGAATGCAGCTCAGGGTT	0.443000																								0							SO:0001583	missense			ENST00000356956.1	1	1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168410	0.57584	.	.	ENSG00000197081	ENST00000356956	T	0.04119	3.7	5.5	5.5	0.81552	Mannose-6-phosphate receptor, binding (1);	0.135082	0.64402	D	0.000003	T	0.09862	0.0242	M	0.86028	2.79	0.58432	D	0.999998	P	0.52316	0.952	P	0.51582	0.674	T	0.05451	-1.0884	10	0.35671	T	0.21	-12.1161	15.6029	0.76639	1.0:0.0:0.0:0.0	.	421	P11717	MPRI_HUMAN	R	421	ENSP00000349437:S421R	ENSP00000349437:S421R	S	+	1	0	IGF2R	160375490	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	6.739000	0.74827	2.090000	0.63153	0.533000	0.62120	AGC		TCGA-IB-7651-01A-11D-2154-08	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	0	35	482	0	81	1	9.983656e-01	12	123	0	81	2		0	0	0	0	0	2	1	1	35	471	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.780000	0.550000	1.000000	1.000000	0.793874	0.780000	0	6.600000e-01	9.200000e-01
IGF2R	3482	broad.mit.edu	37	6	160480049	160480049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160480049C>T	ENST00000356956.1	+	22	3158	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor			95		Breast(66;0.000777)|Ovarian(120;0.0305)		Mecasermin(DB01277)	GCCAGCAAGGCCAGTCGGAAT	0.537000																								0							SO:0001583	missense			ENST00000356956.1	1	1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829125	0.16749	.	.	ENSG00000197081	ENST00000356956	T	0.02067	4.47	4.9	3.12	0.35913	Mannose-6-phosphate receptor, binding (1);	0.819431	0.11240	N	0.584753	T	0.01222	0.0040	L	0.60455	1.87	0.09310	N	1	B	0.21905	0.062	B	0.27608	0.081	T	0.45731	-0.9241	10	0.24483	T	0.36	-7.5375	12.2115	0.54381	0.1206:0.6412:0.2382:0.0	.	1004	P11717	MPRI_HUMAN	S	1004	ENSP00000349437:P1004S	ENSP00000349437:P1004S	P	+	1	0	IGF2R	160400039	0.425000	0.25498	0.093000	0.20910	0.005000	0.04900	0.873000	0.28052	0.268000	0.21939	-0.795000	0.03280	CCA		TCGA-IB-7651-01A-11D-2154-08	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	1	81	413	0	122	1	1	41	189	0	122	2		0	0	0	0	0	2	1	1	80	405	0	121	2								-3.328738	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF2R	3482	broad.mit.edu	37	6	160493851	160493851	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160493851A>G	ENST00000356956.1	+	33	4773	c.4625A>G	c.(4624-4626)tAc>tGc	p.Y1542C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor			95		Breast(66;0.000777)|Ovarian(120;0.0305)		Mecasermin(DB01277)	ACAGCTGCTTACAGCGAGAAG	0.547000																								0							SO:0001583	missense			ENST00000356956.1	1	1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538926	0.45176	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.26	5.26	0.73747	Mannose-6-phosphate receptor, binding (1);	0.587979	0.18186	N	0.148968	T	0.06234	0.0161	M	0.75447	2.3	0.36227	D	0.852367	D	0.76494	0.999	D	0.74023	0.982	T	0.06716	-1.0811	10	0.52906	T	0.07	-7.7268	11.5057	0.50466	1.0:0.0:0.0:0.0	.	1542	P11717	MPRI_HUMAN	C	1542	ENSP00000349437:Y1542C	ENSP00000349437:Y1542C	Y	+	2	0	IGF2R	160413841	0.928000	0.31464	1.000000	0.80357	0.439000	0.31926	4.515000	0.60489	2.205000	0.71048	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	0	0	0	25	666	0	115	1	9.980353e-01	12	245	0	115	2		0	0	0	0	0	2	1	9.999998e-01	24	650	0	114	2								-4.057994	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.420000	0.270000	0.600000	0.410000	0.432827	0.420000	0	3.400000e-01	5.100000e-01
IGF2R	3482	broad.mit.edu	37	6	160494321	160494321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160494321G>A	ENST00000356956.1	+	34	4915	c.4767G>A	c.(4765-4767)caG>caA	p.Q1589Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor			95		Breast(66;0.000777)|Ovarian(120;0.0305)		Mecasermin(DB01277)	AGGTCCTGCAGCTGGTGTACA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000356956.1	1	1	hg19	CCDS5273.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	0	22	229	0	55	1	9.999987e-01	17	228	0	55	2		0	0	0	0	0	2	1	9.999989e-01	22	226	0	55	2								-20.000000	1	1	121412	1	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.660000	1.000000	1.000000	0.935624	0.990000	1	8.200000e-01	1
IGF2R	3482	broad.mit.edu	37	6	160497015	160497015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160497015G>A	ENST00000356956.1	+	36	5451	c.5303G>A	c.(5302-5304)aGa>aAa	p.R1768K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor			95		Breast(66;0.000777)|Ovarian(120;0.0305)		Mecasermin(DB01277)	CACTGTAAGAGAGGTGTGAGC	0.473000																								0							SO:0001583	missense			ENST00000356956.1	1	1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167333	0.78339	.	.	ENSG00000197081	ENST00000356956	T	0.01947	4.54	5.31	5.31	0.75309	Mannose-6-phosphate receptor, binding (1);	0.239713	0.40818	N	0.001003	T	0.01558	0.0050	L	0.45698	1.435	0.42957	D	0.994396	B	0.28439	0.212	B	0.38712	0.28	T	0.54807	-0.8238	10	0.12430	T	0.62	-6.6127	13.1296	0.59373	0.0834:0.0:0.9166:0.0	.	1768	P11717	MPRI_HUMAN	K	1768	ENSP00000349437:R1768K	ENSP00000349437:R1768K	R	+	2	0	IGF2R	160417005	1.000000	0.71417	0.904000	0.35570	0.901000	0.52897	4.728000	0.62000	2.637000	0.89404	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	1	110	478	0	107	1	1	50	229	0	107	2		0	0	0	0	0	2	1	1	109	470	0	105	2								-3.333922	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC22A2	6582	broad.mit.edu	37	6	160679678	160679678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160679678C>T	ENST00000366953.3	-	1	370	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	SLC22A2_ENST00000366952.1_Missense_Mutation_p.V17M|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2			27		Breast(66;0.000776)|Ovarian(120;0.0303)		Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ACGATGCCCACGTAGATGGGC	0.607000																								0							SO:0001583	missense			ENST00000366953.3	1	1	hg19	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676933	0.67928	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73469	-0.75;-0.74	5.22	5.22	0.72569	Major facilitator superfamily domain (1);	0.136685	0.48767	D	0.000163	T	0.70011	0.3175	L	0.39692	1.235	0.43574	D	0.995904	D;D;D	0.64830	0.988;0.97;0.994	P;B;P	0.54140	0.726;0.298;0.743	T	0.65549	-0.6141	10	0.25751	T	0.34	.	18.9747	0.92731	0.0:1.0:0.0:0.0	.	38;38;38	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	M	38;17	ENSP00000355920:V38M;ENSP00000355919:V17M	ENSP00000355919:V17M	V	-	1	0	SLC22A2	160599668	0.999000	0.42202	0.982000	0.44146	0.709000	0.40893	4.177000	0.58276	2.701000	0.92244	0.557000	0.71058	GTG		TCGA-IB-7651-01A-11D-2154-08	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	1	0	0	22	480	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	9.999986e-01	22	474	0	96	2								-3.333104	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.510000	0.330000	0.730000	0.500000	0.524950	0.510000	0	4.100000e-01	6.300000e-01
SLC22A3	6581	broad.mit.edu	37	6	160831795	160831795	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160831795C>T	ENST00000275300.2	+	5	1044	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	SLC22A3_ENST00000392145.1_Missense_Mutation_p.R298W	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3			27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GCTGATTACTCGGAAGAAAGG	0.428000																								0							SO:0001583	missense			ENST00000275300.2	1	1	hg19	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834338	0.91036	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60424	0.19;0.19	5.77	5.77	0.91146	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156570	0.45361	D	0.000380	T	0.71065	0.3296	M	0.69358	2.11	0.51233	D	0.999914	D	0.89917	1.0	D	0.79784	0.993	T	0.72940	-0.4139	10	0.87932	D	0	.	18.1733	0.89753	0.0:1.0:0.0:0.0	.	298	O75751	S22A3_HUMAN	W	298	ENSP00000275300:R298W;ENSP00000375989:R298W	ENSP00000275300:R298W	R	+	1	2	SLC22A3	160751785	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.719000	0.61937	2.745000	0.94114	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	0	0	0	10	263	0	62	0	3.750396e-01	0	33	0	62	2		0	0	0	0	0	2	1	9.966748e-01	10	258	0	62	2								-2.616611	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.430000	0.220000	0.730000	0.410000	0.456038	0.430000	0	3.100000e-01	5.800000e-01
SLC22A3	6581	broad.mit.edu	37	6	160858179	160858179	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858179C>T	ENST00000275300.2	+	7	1376	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	SLC22A3_ENST00000392145.1_Silent_p.L408L	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3			27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GACGACGCCTCCCCTTTGCGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000275300.2	1	1	hg19	CCDS5277.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	1	0	1	186	804	0	229	1	9.545054e-01	20	4	0	229	2		0	0	0	0	0	2	1	1	184	784	0	225	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC22A3	6581	broad.mit.edu	37	6	160858187	160858187	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858187C>T	ENST00000275300.2	+	7	1384	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A411V	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3			27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CTCCCCTTTGCGGCAAGCAAT	0.502000																								0							SO:0001583	missense			ENST00000275300.2	1	1	hg19	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495541	0.64186	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.58652	0.32;0.47	5.83	5.83	0.93111	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.63843	1.955	0.35287	D	0.78182	D	0.60160	0.987	P	0.45232	0.474	T	0.54899	-0.8224	10	0.41790	T	0.15	.	12.5881	0.56428	0.0:0.9242:0.0:0.0758	.	411	O75751	S22A3_HUMAN	V	411	ENSP00000275300:A411V;ENSP00000375989:A411V	ENSP00000275300:A411V	A	+	2	0	SLC22A3	160778177	0.987000	0.35691	0.000000	0.03702	0.974000	0.67602	2.768000	0.47645	2.756000	0.94617	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	0	0	1	161	774	0	220	1	9.344539e-01	3	20	0	220	2		0	0	0	0	0	2	1	1	158	755	0	215	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPA	4018	broad.mit.edu	37	6	160953597	160953597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160953597G>A	ENST00000316300.5	-	38	5971	c.5927C>T	c.(5926-5928)gCt>gTt	p.A1976V	LPA_ENST00000447678.1_Missense_Mutation_p.A1976V			P08519	APOA_HUMAN	lipoprotein, Lp(a)			107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		Aminocaproic Acid(DB00513)	CAAATGCTCAGCACAAATATA	0.443000																								0							SO:0001583	missense			ENST00000316300.5	1	1	hg19	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	14.27	2.486295	0.44147	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.91124	-2.79;-2.79	1.93	1.93	0.25924	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93602	0.7957	M	0.83852	2.665	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	D	0.93468	0.6816	9	0.62326	D	0.03	.	11.4209	0.49980	0.0:0.0:1.0:0.0	.	4484	P08519	APOA_HUMAN	V	1976	ENSP00000321334:A1976V;ENSP00000395608:A1976V	ENSP00000321334:A1976V	A	-	2	0	LPA	160873587	1.000000	0.71417	0.075000	0.20258	0.024000	0.10985	7.310000	0.78947	1.412000	0.46977	0.184000	0.17185	GCT		TCGA-IB-7651-01A-11D-2154-08	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	1	0	1	35	261	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	1	33	259	0	52	2								-15.000700	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.980000	1.000000	1.000000	0.998026	0.990000	1	9.900000e-01	1
LPA	4018	broad.mit.edu	37	6	161012086	161012086	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161012086G>T	ENST00000316300.5	-	23	3721	c.3677C>A	c.(3676-3678)cCt>cAt	p.P1226H	LPA_ENST00000447678.1_Missense_Mutation_p.P1226H			P08519	APOA_HUMAN	lipoprotein, Lp(a)			107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		Aminocaproic Acid(DB00513)	ATAACACCAAGGACTAATCTC	0.478000																								0							SO:0001583	missense			ENST00000316300.5	1	1	hg19	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642013	0.29157	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.83914	-1.78;-1.78	2.23	2.23	0.28157	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.93245	0.7848	H	0.99697	4.71	0.25370	N	0.9887	D	0.89917	1.0	D	0.97110	1.0	D	0.84621	0.0684	9	0.72032	D	0.01	.	10.0796	0.42381	0.0:0.0:1.0:0.0	.	3734	P08519	APOA_HUMAN	H	1226	ENSP00000321334:P1226H;ENSP00000395608:P1226H	ENSP00000321334:P1226H	P	-	2	0	LPA	160932076	1.000000	0.71417	0.657000	0.29651	0.220000	0.24768	6.735000	0.74806	1.225000	0.43566	0.205000	0.17691	CCT		TCGA-IB-7651-01A-11D-2154-08	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	0	0	0	48	176	1	39		0	0	0	1	39	2		0	0	0	0	0	2	1	9.999797e-01	48	172	1	39	18								-3.634555	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPA	4018	broad.mit.edu	37	6	161015074	161015074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161015074G>A	ENST00000316300.5	-	22	3589	c.3545C>T	c.(3544-3546)aCc>aTc	p.T1182I	LPA_ENST00000447678.1_Missense_Mutation_p.T1182I			P08519	APOA_HUMAN	lipoprotein, Lp(a)			107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		Aminocaproic Acid(DB00513)	TGTGACAGTGGTAGAGAATGA	0.473000																								0							SO:0001583	missense			ENST00000316300.5	1	1	hg19	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	6.106	0.387885	0.11581	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63096	-0.02;-0.02	2.56	0.653	0.17828	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.57110	0.2031	M	0.62209	1.925	0.09310	N	1	D	0.65815	0.995	D	0.83275	0.996	T	0.42982	-0.9419	9	0.40728	T	0.16	.	4.8007	0.13296	0.3309:0.0:0.6691:0.0	.	3690	P08519	APOA_HUMAN	I	1182	ENSP00000321334:T1182I;ENSP00000395608:T1182I	ENSP00000321334:T1182I	T	-	2	0	LPA	160935064	0.657000	0.27393	0.009000	0.14445	0.060000	0.15804	0.101000	0.15251	-0.002000	0.14469	0.436000	0.28706	ACC		TCGA-IB-7651-01A-11D-2154-08	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	1	0	1	103	455	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1	101	446	0	114	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXC1	2296	broad.mit.edu	37	6	1610993	1610993	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1610993T>C	ENST00000380874.2	+	1	313	c.313T>C	c.(313-315)Tac>Cac	p.Y105H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1			8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)			GAACGGCATCTACCAGTTCAT	0.577000													Pancreas(133;719 1821 3197 26645 35015)											0							SO:0001583	missense			ENST00000380874.2	1	1	hg19	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.022166	0.75275	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.97279	-4.32	3.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	U	0.000005	D	0.99061	0.9678	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	12.605	0.56519	0.0:0.0:0.0:1.0	.	105	Q12948	FOXC1_HUMAN	H	105	ENSP00000370256:Y105H	ENSP00000370256:Y105H	Y	+	1	0	FOXC1	1555992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.138000	0.77305	1.501000	0.48654	0.375000	0.23000	TAC		TCGA-IB-7651-01A-11D-2154-08	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1	1	0	1	122	579	0	163	1	9.999932e-01	37	44	0	163	2		0	0	0	0	0	2	1	1	121	570	0	161	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLIP	29116	broad.mit.edu	37	6	16141919	16141919	+	Silent	SNP	G	G	A	rs139469255	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16141919G>A	ENST00000356840.3	+	3	540	c.342G>A	c.(340-342)gaG>gaA	p.E114E	MIR4639_ENST00000584938.1_RNA|MYLIP_ENST00000349606.4_5'UTR	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein			28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)		GTTCCCCAGAGCAGGCAGTGG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000356840.3	1	1	hg19	CCDS4536.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	0	0	1	51	256	0	58	1	9.998772e-01	13	57	0	58	2		0	0	0	0	0	2	1	1	51	253	0	57	2								-3.883061	1	1	121412	89	51	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K4	4216	broad.mit.edu	37	6	161470912	161470912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161470912G>A	ENST00000392142.4	+	3	1756	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	MAP3K4_ENST00000366919.2_Silent_p.Q536Q|MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000348824.7_Silent_p.Q536Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4			77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)			CACTGAAGCAGATGGGGTTAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000392142.4	1	1	hg19	CCDS34565.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3	1	0	0	73	316	0	98	1	9.084224e-01	4	16	0	98	2		0	0	0	0	0	2	1	1	72	310	0	97	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K4	4216	broad.mit.edu	37	6	161505595	161505595	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161505595G>T	ENST00000392142.4	+	7	2466	c.2318G>T	c.(2317-2319)aGc>aTc	p.S773I	MAP3K4_ENST00000366919.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4			77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)			TTACAGGAGAGCTGTGCTGAA	0.408000																								0							SO:0001583	missense			ENST00000392142.4	0	1	hg19	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386766	0.82902	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71341	-0.56;-0.55;-0.55;-0.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.71771	-0.4492	10	0.36615	T	0.2	-20.1432	20.2284	0.98346	0.0:0.0:1.0:0.0	.	773;773;773	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	I	773	ENSP00000355886:S773I;ENSP00000375986:S773I;ENSP00000355887:S773I;ENSP00000297332:S773I	ENSP00000297332:S773I	S	+	2	0	MAP3K4	161425585	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.642000	0.83385	2.785000	0.95823	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3	0	0	0	15	352	0	43	0	4.969682e-01	1	38	0	43	2		0	0	0	0	0	2	1	9.998569e-01	15	344	0	43	2								-4.114376	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.480000	0.280000	0.740000	0.470000	0.496842	0.480000	0	3.700000e-01	6.100000e-01
MAP3K4	4216	broad.mit.edu	37	6	161518151	161518151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161518151G>A	ENST00000392142.4	+	16	3615	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	p.R1156Q(2)		77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)			AAGGTACCTCGATGCCATAGT	0.468000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000392142.4	1	1	hg19	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835979	0.97003	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.73897	-0.79;-0.72;-0.62;-0.73	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.77685	0.4167	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.97;0.999;1.0	D;B;D;D	0.83275	0.928;0.186;0.99;0.996	T	0.76247	-0.3029	10	0.45353	T	0.12	-14.0529	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1152;142;1156;1156	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Q	1156;1156;1156;1152;1152	ENSP00000355886:R1156Q;ENSP00000375986:R1156Q;ENSP00000355887:R1152Q;ENSP00000297332:R1152Q	ENSP00000297332:R1152Q	R	+	2	0	MAP3K4	161438141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.230000	0.95299	2.882000	0.98803	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3	1	0	1	60	279	1	95	1	9.952909e-01	17	54	1	95	5		0	0	0	0	0	2	1	1	61	275	0	95	2								-3.294733	1	1	121412	1	27	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGPAT4	56895	broad.mit.edu	37	6	161560502	161560502	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161560502T>C	ENST00000320285.4	-	8	1206	c.994A>G	c.(994-996)Agc>Ggc	p.S332G	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4			25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)			GAAGACCCGCTCCTGATCATG	0.632000																								0							SO:0001583	missense			ENST00000320285.4	1	1	hg19	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851995	0.51270	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.34072	1.38	5.29	5.29	0.74685	.	0.096844	0.64402	D	0.000001	T	0.28962	0.0719	M	0.78456	2.415	0.80722	D	1	B;B	0.29936	0.085;0.262	B;B	0.26864	0.074;0.053	T	0.29119	-1.0022	10	0.66056	D	0.02	-14.4341	15.2173	0.73277	0.0:0.0:0.0:1.0	.	170;332	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	G	332;170	ENSP00000314036:S332G	ENSP00000314036:S332G	S	-	1	0	AGPAT4	161480492	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	6.077000	0.71275	1.988000	0.58038	0.455000	0.32223	AGC		TCGA-IB-7651-01A-11D-2154-08	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	0	0	1	160	803	0	189	1	9.992082e-01	12	42	0	189	2		0	0	0	0	0	2	1	1	156	787	0	185	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	G	A	rs143406726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161575237G>A	ENST00000320285.4	-	4	666	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4			25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)			ACCGTCTTGCGATCCTGCTCC	0.562000																								0							SO:0001583	missense			ENST00000320285.4	1	1	hg19	CCDS5280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195733|4.195733	0.78902|0.78902	.|.	.|.	ENSG00000026652|ENSG00000026652	ENST00000320285;ENST00000366906|ENST00000366911	D;D|.	0.91521|.	-2.86;-2.86|.	4.41|4.41	4.41|4.41	0.53225|0.53225	Phospholipid/glycerol acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49695|0.49695	0.1572|0.1572	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.44946	1.0;1.0|0.846	D;D|B	0.73380|0.35899	0.98;0.973|0.213	T|T	0.66372|0.66372	-0.5940|-0.5940	10|8	0.87932|0.87932	D|D	0|0	-46.4133|-46.4133	12.3423|12.3423	0.55101|0.55101	0.0:0.0:0.8312:0.1687|0.0:0.0:0.8312:0.1687	.|.	152;152|95	B4DHC0;Q9NRZ5|B4DIY1	.;PLCD_HUMAN|.	C|L	152;90|95	ENSP00000314036:R152C;ENSP00000355873:R90C|.	ENSP00000314036:R152C|ENSP00000355878:S95L	R|S	-|-	1|2	0|0	AGPAT4|AGPAT4	161495227|161495227	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.867000|0.867000	0.49689|0.49689	6.093000|6.093000	0.71422|0.71422	2.290000|2.290000	0.77057|0.77057	0.651000|0.651000	0.88453|0.88453	CGC|TCG		TCGA-IB-7651-01A-11D-2154-08	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	1	0	1	81	352	0	95	1	9.994965e-01	12	39	0	95	2		0	0	0	0	0	2	1	1	79	348	0	94	2								-20.000000	1	1	121412	2	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGPAT4	56895	broad.mit.edu	37	6	161653106	161653106	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161653106C>T	ENST00000320285.4	-	2	352	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4			25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)			GTTGATCTTCCGGAAGAGCTG	0.448000																								0							SO:0001583	missense			ENST00000320285.4	1	1	hg19	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025019	0.75390	.	.	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.7	5.7	0.88788	.	0.054761	0.64402	D	0.000002	T	0.64148	0.2572	M	0.80028	2.48	0.80722	D	1	D;P;D;P	0.89917	1.0;0.852;1.0;0.47	D;B;D;B	0.91635	0.999;0.054;0.997;0.063	T	0.66976	-0.5787	10	0.66056	D	0.02	-41.1725	19.8351	0.96655	0.0:1.0:0.0:0.0	.	47;47;47;47	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	Q	47	ENSP00000355878:R47Q;ENSP00000314036:R47Q;ENSP00000407007:R47Q;ENSP00000355875:R47Q;ENSP00000355872:R47Q	ENSP00000314036:R47Q	R	-	2	0	AGPAT4	161573096	1.000000	0.71417	0.845000	0.33349	0.420000	0.31355	7.512000	0.81728	2.693000	0.91896	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	1	0	1	45	208	0	54	1	9.997638e-01	14	47	0	54	2		0	0	0	0	0	2	1	1	43	198	0	53	2								-2.605100	1	1	121412	1	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARK2	5071	broad.mit.edu	37	6	162394349	162394349	+	Missense_Mutation	SNP	G	G	A	rs137853054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162394349G>A	ENST00000366898.1	-	6	821	c.719C>T	c.(718-720)aCg>aTg	p.T240M	PARK2_ENST00000366894.1_Missense_Mutation_p.T49M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366892.1_Missense_Mutation_p.T240M|PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	p.T240M(1)		39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)			GTCTGTGCACGTAATGCAAGT	0.448000																								1	Substitution - Missense(1)	GRCh37	CM030926|CM983422	PARK2	M	rs137853054	SO:0001583	missense			ENST00000366898.1	1	1	hg19	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086777	0.55861	0.0	2.33E-4	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.92858	-2.8;-2.91;-3.12;-2.51;-2.51;-2.88	5.14	5.14	0.70334	.	0.278693	0.35525	N	0.003154	D	0.92463	0.7607	L	0.56769	1.78	0.24015	N	0.99616	D;D;P;P;P	0.62365	0.991;0.965;0.933;0.884;0.94	P;P;B;B;B	0.59643	0.861;0.472;0.317;0.317;0.366	D	0.87630	0.2515	10	0.56958	D	0.05	.	15.9522	0.79850	0.0:0.0:1.0:0.0	.	240;91;212;240;49	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	240;212;91;49;49;49;240;161	ENSP00000355865:T240M;ENSP00000355863:T212M;ENSP00000355862:T91M;ENSP00000355860:T49M;ENSP00000343589:T49M;ENSP00000355858:T240M	ENSP00000343589:T49M	T	-	2	0	PARK2	162314339	0.987000	0.35691	0.299000	0.25016	0.867000	0.49689	6.594000	0.74104	2.550000	0.86006	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1	1	0	1	59	207	0	48	0	5.076846e-02	0	2	0	48	2		0	0	0	0	0	2	1	1	57	204	0	48	2								-3.402217	1	1	121412	35	49	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GMDS	2762	broad.mit.edu	37	6	1624761	1624761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1624761G>A	ENST00000380815.4	-	10	1271	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	GMDS_ENST00000530927.1_Silent_p.G304G|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase		GMDS/PDE8B(2)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)			TGGTGCAGTCGCCCTGCAGAA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000380815.4	0	1	hg19	CCDS4474.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3	0	0	0	5	181	0	37	1	9.999835e-01	32	1354	0	37	2		0	0	0	0	0	2	1	9.366132e-01	5	179	0	37	2								-6.983386	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.330000	0.120000	0.660000	0.310000	0.359077	0.330000	0	2.100000e-01	4.900000e-01
GMPR	2766	broad.mit.edu	37	6	16254937	16254937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16254937C>T	ENST00000259727.4	+	4	550	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase			20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)			GAAACTTGTCCGTGCCAAATT	0.448000																								0							SO:0001583	missense			ENST00000259727.4	1	1	hg19	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664263	0.88251	.	.	ENSG00000137198	ENST00000259727	T	0.80824	-1.42	5.65	5.65	0.86999	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.047756	0.85682	D	0.000000	D	0.94238	0.8150	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96190	0.9137	10	0.87932	D	0	-2.5434	19.7405	0.96228	0.0:1.0:0.0:0.0	.	146	P36959	GMPR1_HUMAN	C	146	ENSP00000259727:R146C	ENSP00000259727:R146C	R	+	1	0	GMPR	16362916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.655000	0.90218	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2	1	0	1	110	510	0	143	1	9.996711e-01	11	45	0	143	2		0	0	0	0	0	2	1	1	106	502	0	140	2								-2.543593	1	1	121412	2	33	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARK2	5071	broad.mit.edu	37	6	162622162	162622162	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162622162C>T	ENST00000366898.1	-	4	637		c.e4+1		PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase			39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)			CATTTCCTTACCTGGGTCAAG	0.468000																								0							SO:0001630	splice_region_variant			ENST00000366898.1	1	1	hg19	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248666	0.80024	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3813	0.74658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	162542152	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.883000	0.56168	2.688000	0.91661	0.643000	0.83706	.		TCGA-IB-7651-01A-11D-2154-08	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1	1	0	1	68	276	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	67	273	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATXN1	6310	broad.mit.edu	37	6	16326701	16326701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16326701G>A	ENST00000244769.4	-	8	2777	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1			44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)			CCTCTCTACGGTGCTGGAGTC	0.552000																								0							SO:0001583	missense			ENST00000244769.4	1	1	hg19	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889332	0.72524	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.80653	-1.4;-1.4	4.45	4.45	0.53987	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.048732	0.85682	D	0.000000	D	0.86723	0.6001	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88471	0.3062	10	0.87932	D	0	-17.0797	17.2893	0.87150	0.0:0.0:1.0:0.0	.	614	P54253	ATX1_HUMAN	I	614	ENSP00000244769:T614I;ENSP00000416360:T614I	ENSP00000244769:T614I	T	-	2	0	ATXN1	16434680	1.000000	0.71417	0.931000	0.37212	0.741000	0.42261	9.125000	0.94402	2.307000	0.77673	0.561000	0.74099	ACC		TCGA-IB-7651-01A-11D-2154-08	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	1	0	1	97	429	0	74	1	9.985028e-01	4	41	0	74	2		0	0	0	0	0	2	1	1	97	424	0	74	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PACRG	135138	broad.mit.edu	37	6	163510351	163510351	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163510351T>G	ENST00000337019.3	+	5	748	c.524T>G	c.(523-525)cTg>cGg	p.L175R	PACRG_ENST00000366888.2_Missense_Mutation_p.L175R|PACRG_ENST00000366889.2_Missense_Mutation_p.L175R	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated			20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)			CTCCAGCATCTGGTTGTGTCA	0.458000																								0							SO:0001583	missense			ENST00000337019.3	1	1	hg19	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.659151|4.659151	0.88154|0.88154	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000542936	T;T;T|.	0.73258|.	-0.67;-0.73;-0.73|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82135|0.82135	0.4971|0.4971	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	D|D	0.86591|0.86591	0.1860|0.1860	10|5	0.87932|.	D|.	0|.	-15.6516|-15.6516	15.8327|15.8327	0.78769|0.78769	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	175;175|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	R|G	175|33	ENSP00000337946:L175R;ENSP00000355855:L175R;ENSP00000355854:L175R|.	ENSP00000337946:L175R|.	L|W	+|+	2|1	0|0	PACRG|PACRG	163430341|163430341	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.959000|0.959000	0.62525|0.62525	7.227000|7.227000	0.78070|0.78070	2.146000|2.146000	0.66826|0.66826	0.482000|0.482000	0.46254|0.46254	CTG|TGG		TCGA-IB-7651-01A-11D-2154-08	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	1	0	1	93	419	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1	92	414	0	87	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
QKI	9444	broad.mit.edu	37	6	163836318	163836318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163836318G>A	ENST00000361752.3	+	1	644	c.93G>A	c.(91-93)ctG>ctA	p.L31L	QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000424802.3_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000361195.2_Silent_p.L31L|CAHM_ENST00000604200.1_lincRNA|QKI_ENST00000453779.2_Silent_p.L31L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	p.L31L(1)		27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)			TGAGCAGCCTGCCCAACTTCT	0.642000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000361752.3	1	1	hg19	CCDS5285.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	1	0	0	61	297	0	84	1	1	18	182	0	84	2		0	0	0	0	0	2	1	1	60	295	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf118	168090	broad.mit.edu	37	6	165715084	165715084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715084C>T	ENST00000230301.8	-	2	747	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	C6orf118_ENST00000543069.1_Missense_Mutation_p.A139T	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118			40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)			TCGTGGCCCGCGGCCGCCTTG	0.607000																								0							SO:0001583	missense			ENST00000230301.8	1	1	hg19	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836530	0.16891	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13901	2.55;2.55	4.92	-9.32	0.00643	.	3.383220	0.00839	N	0.001730	T	0.01124	0.0037	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.25984	-1.0116	10	0.14656	T	0.56	0.9594	7.83	0.29336	0.0:0.2349:0.4167:0.3484	.	243	Q5T5N4	CF118_HUMAN	T	243;139	ENSP00000230301:A243T;ENSP00000439288:A139T	ENSP00000230301:A243T	A	-	1	0	C6orf118	165635074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.956000	0.01522	-2.139000	0.00807	-1.239000	0.01543	GCG		TCGA-IB-7651-01A-11D-2154-08	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	1	0	1	73	371	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	71	358	0	70	2								-20.000000	1	1	121410	3	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf118	168090	broad.mit.edu	37	6	165715502	165715502	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118			40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)			CCTTCATCCTCGCCACCTTCC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000230301.8	1	1	hg19	CCDS5288.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	0	0	1	95	418	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	95	414	0	88	2								-3.069831	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf118	168090	broad.mit.edu	37	6	165715758	165715758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715758G>A	ENST00000230301.8	-	2	73	c.53C>T	c.(52-54)aCg>aTg	p.T18M	C6orf118_ENST00000543069.1_De_novo_Start_InFrame	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	p.T18M(2)		40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)			CACGCCTGGCGTCTCGCAGTG	0.512000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000230301.8	1	0	hg19	CCDS5288.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	9.290	1.050372	0.19827	0.0	1.16E-4	ENSG00000112539	ENST00000230301	T	0.13089	2.62	4.36	-2.87	0.05700	.	0.749003	0.12202	N	0.490169	T	0.02156	0.0067	L	0.31065	0.9	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.43261	-0.9402	10	0.48119	T	0.1	.	1.2184	0.01918	0.4093:0.1572:0.2895:0.1439	.	18	Q5T5N4	CF118_HUMAN	M	18	ENSP00000230301:T18M	ENSP00000230301:T18M	T	-	2	0	C6orf118	165635748	0.001000	0.12720	0.010000	0.14722	0.007000	0.05969	0.098000	0.15189	-0.451000	0.07097	-0.224000	0.12420	ACG		TCGA-IB-7651-01A-11D-2154-08	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	1	0	1	68	317	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	68	312	0	63	2								-20.000000	1	0	121410	7	41	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE10A	10846	broad.mit.edu	37	6	165749634	165749634	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165749634C>T	ENST00000366882.1	-	22	2369	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A			71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGAAGAGGCTCCGTGGGAGGG	0.463000													Esophageal Squamous(22;308 615 5753 12038 40624)											0							SO:0001583	missense			ENST00000366882.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.089	0.384630	0.11524	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76578	-1.03;-1.03	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.307106	0.39909	N	0.001232	T	0.39572	0.1083	N	0.11789	0.175	0.22918	N	0.998562	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.002	T	0.05767	-1.0865	10	0.07325	T	0.83	.	15.0715	0.72040	0.0:0.8585:0.1415:0.0	.	749;739	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	739;767;749;739;738	ENSP00000355847:E739K;ENSP00000346435:E739K	ENSP00000341187:E749K	E	-	1	0	PDE10A	165669624	0.766000	0.28496	0.470000	0.27216	0.695000	0.40330	1.776000	0.38594	2.681000	0.91329	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	1	0	1	24	141	0	47	0	3.974613e-01	0	9	0	47	2		0	0	0	0	0	2	1	9.999997e-01	24	133	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999413	0.990000	1	9.900000e-01	1
PDE10A	10846	broad.mit.edu	37	6	165792768	165792768	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165792768C>A	ENST00000366882.1	-	19	2024	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A			71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AAAGCAAGGTCTGTGGCAATG	0.403000													Esophageal Squamous(22;308 615 5753 12038 40624)											0							SO:0001583	missense			ENST00000366882.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	29.3	4.991485	0.93106	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.90844	-2.74;-2.74	5.95	5.95	0.96441	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.93854	3.465	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96914	0.9669	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	634;624	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Y	624;652;634;624;623	ENSP00000355847:D624Y;ENSP00000346435:D624Y	ENSP00000341187:D634Y	D	-	1	0	PDE10A	165712758	1.000000	0.71417	0.020000	0.16555	0.990000	0.78478	7.207000	0.77899	2.824000	0.97209	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	1	0	1	112	472	0	79	0	6.538199e-01	0	11	0	79	2		0	0	0	0	0	2	1	1	110	464	0	79	2								-3.391845	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDE10A	10846	broad.mit.edu	37	6	165809938	165809938	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165809938C>T	ENST00000366882.1	-	15	1413	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	p.R420K(1)		71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGCGAATTCTATGATACAT	0.373000													Esophageal Squamous(22;308 615 5753 12038 40624)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000366882.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.63	1.403901	0.25291	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67865	-0.29;-0.29	5.34	5.34	0.76211	GAF (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	N	0.16656	0.425	0.53688	D	0.999977	P;B	0.52842	0.956;0.023	D;B	0.65010	0.931;0.014	T	0.54166	-0.8334	10	0.02654	T	1	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	430;420	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	420;448;430;420;419	ENSP00000355847:R420K;ENSP00000346435:R420K	ENSP00000341187:R430K	R	-	2	0	PDE10A	165729928	1.000000	0.71417	0.006000	0.13384	0.661000	0.39034	7.463000	0.80869	2.508000	0.84585	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	1	0	1	84	392	0	90	1	4.927538e-01	2	7	0	90	2		0	0	0	0	0	2	1	1	84	385	0	89	2								-3.190780	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
T	6862	broad.mit.edu	37	6	166580185	166580185	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166580185G>A	ENST00000296946.2	-	3	834	c.366C>T	c.(364-366)tgC>tgT	p.C122C	T_ENST00000366871.3_Silent_p.C122C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)			39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)			GGATGTAGACGCAGCTGGGCG	0.652000									Chordoma, Familial Clustering of															0							SO:0001819	synonymous_variant	Familial Cancer Database		ENST00000296946.2	1	1	hg19	CCDS5290.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	1	0	0	38	629	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	38	611	0	106	2								-20.000000	1	1	121412	1	28	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.660000	0.470000	0.870000	0.660000	0.672248	0.660000	0	5.600000e-01	7.700000e-01
RPS6KA2	6196	broad.mit.edu	37	6	166827296	166827296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166827296C>T	ENST00000265678.4	-	20	2285	c.2062G>A	c.(2062-2064)Gtg>Atg	p.V688M	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.V713M	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2			45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)			ACCAGGTGCACGTCCTGTCGG	0.577000																								0							SO:0001583	missense			ENST00000265678.4	1	1	hg19	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393308	0.42410	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	3.99	3.99	0.46301	Protein kinase-like domain (1);	0.410486	0.24276	N	0.039959	T	0.22936	0.0554	L	0.40543	1.245	0.80722	D	1	B;B;D	0.61080	0.302;0.287;0.989	B;B;B	0.42087	0.029;0.064;0.375	T	0.02519	-1.1147	10	0.29301	T	0.29	.	15.671	0.77274	0.0:1.0:0.0:0.0	.	713;696;688	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	M	688;713;696;599;599	ENSP00000265678:V688M;ENSP00000422435:V713M;ENSP00000427015:V696M;ENSP00000422484:V599M;ENSP00000386050:V599M	ENSP00000265678:V688M	V	-	1	0	RPS6KA2	166747286	0.979000	0.34478	0.934000	0.37439	0.863000	0.49368	3.460000	0.53028	2.245000	0.73994	0.478000	0.44815	GTG		TCGA-IB-7651-01A-11D-2154-08	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	1	0	1	23	168	0	50	1	9.996814e-01	9	88	0	50	2		0	0	0	0	0	2	1	9.999992e-01	20	161	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.910000	1.000000	1.000000	0.995145	0.990000	1	9.900000e-01	1
RPS6KA2	6196	broad.mit.edu	37	6	166864717	166864717	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166864717A>C	ENST00000265678.4	-	13	1303	c.1080T>G	c.(1078-1080)tcT>tcG	p.S360S	RPS6KA2_ENST00000481261.2_Silent_p.S271S|RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000503859.1_Silent_p.S368S|RPS6KA2_ENST00000510118.1_Silent_p.S385S	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2			45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)			GGACGCCAGGAGAGTCTGTAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000265678.4	1	1	hg19	CCDS5294.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	1	0	1	87	426	0	110	1	9.999999e-01	7	112	0	110	2		0	0	0	0	0	2	1	1	86	416	0	110	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPS6KA2	6196	broad.mit.edu	37	6	166902391	166902391	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166902391C>T	ENST00000265678.4	-	10	1060	c.837G>A	c.(835-837)ccG>ccA	p.P279P	RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000503859.1_Silent_p.P287P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000510118.1_Silent_p.P304P	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	p.P287P(1)|p.P279P(1)		45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)			TGAGGAACTGCGGCATCCCCA	0.537000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000265678.4	1	1	hg19	CCDS5294.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	1	0	1	20	111	0	30	1	9.999150e-01	7	84	0	30	2		0	0	0	0	0	2	1	9.999963e-01	19	108	0	30	2								-3.362961	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999197	0.990000	1	9.900000e-01	1
RPS6KA2	6196	broad.mit.edu	37	6	166912074	166912074	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166912074G>A	ENST00000265678.4	-	8	892	c.669C>T	c.(667-669)atC>atT	p.I223I	RPS6KA2_ENST00000481261.2_Silent_p.I134I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000503859.1_Silent_p.I231I|RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000510118.1_Silent_p.I248I	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2			45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)			CCATGTACTCGATCGTCCCGC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000265678.4	1	1	hg19	CCDS5294.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	1	0	1	73	301	0	61	1	1	6	104	0	61	2		0	0	0	0	0	2	1	1	71	298	0	58	2								-3.561499	1	1	121412	3	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNASET2	8635	broad.mit.edu	37	6	167344532	167344532	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167344532C>A	ENST00000508775.1	-	8	1086	c.567G>T	c.(565-567)caG>caT	p.Q189H	RNASET2_ENST00000366855.6_Splice_Site_p.Q151H|RNASET2_ENST00000476238.2_Splice_Site_p.Q189H|RNASET2_ENST00000496851.2_5'Flank|RP11-514O12.4_ENST00000507747.1_Intron	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2			8		Breast(66;1.53e-05)|Ovarian(120;0.0606)			ACTGTCTAACCTGGCTTGGTG	0.418000																								0							SO:0001630	splice_region_variant			ENST00000508775.1	1	0	hg19	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379746	0.42207	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.5	4.5	0.54988	.	0.705587	0.14459	N	0.318337	D	0.82527	0.5056	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.71674	0.998;0.997	D;D	0.73708	0.981;0.925	T	0.81769	-0.0781	9	.	.	.	-17.1781	14.7166	0.69275	0.0:1.0:0.0:0.0	.	239;189	C9JIU8;O00584	.;RNT2_HUMAN	H	151;189;239;189;189	ENSP00000424947:Q151H;ENSP00000426455:Q189H;ENSP00000422846:Q189H;ENSP00000426059:Q189H	.	Q	-	3	2	RNASET2	167264522	1.000000	0.71417	0.212000	0.23672	0.083000	0.17756	3.989000	0.56958	2.045000	0.60652	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	1	0	1	110	479	0	132	0	1	1	2067	0	132	2		0	0	0	0	0	2	1	1	110	470	0	132	2								-3.029493	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGFR1OP	11116	broad.mit.edu	37	6	167416734	167416734	+	Splice_Site	SNP	C	C	T	rs146065090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167416734C>T	ENST00000366847.4	+	3	441	c.210C>T	c.(208-210)gaC>gaT	p.D70D	FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000476078.1_3'UTR	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner			4		Breast(66;1.48e-05)|Ovarian(120;0.0607)			ATACCAAAGACGGTAAGATGT	0.294000			T	FGFR1	MPD, NHL										Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0							SO:0001630	splice_region_variant			ENST00000366847.4	1	0	hg19	CCDS5296.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	0	0	1	26	179	0	39	1	9.339642e-01	10	24	0	39	2		0	0	0	0	0	2	1	9.999999e-01	26	178	0	39	2								-20.000000	1	1	121376	17	42	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.980000	1.000000	1.000000	0.997992	0.990000	1	9.900000e-01	1
CCR6	1235	broad.mit.edu	37	6	167550300	167550300	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167550300C>T	ENST00000341935.5	+	3	1134	c.582C>T	c.(580-582)agC>agT	p.S194S	CCR6_ENST00000400926.2_Silent_p.S194S|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000349984.4_Silent_p.S194S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6			14		Breast(66;1.53e-05)|Ovarian(120;0.0606)			CCCAAGGCAGCGATGTCTGTG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000341935.5	1	1	hg19	CCDS5298.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1	1	0	0	96	364	0	85	0	6.481956e-01	1	9	0	85	2		0	0	0	0	0	2	1	1	97	360	0	85	2								-20.000000	1	1	121412	1	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC93A	54346	broad.mit.edu	37	6	167708179	167708179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167708179G>A	ENST00000230256.3	+	2	437	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)			40		Breast(66;7.62e-05)|Ovarian(120;0.105)			CAACTTCTTCGCCAGCTGGTA	0.617000																								0							SO:0001583	missense			ENST00000230256.3	1	1	hg19	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491407	0.44249	0.0	2.33E-4	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	D;D;D	0.83673	-1.75;-1.75;-1.75	4.66	3.72	0.42706	Major facilitator superfamily domain, general substrate transporter (1);	0.115273	0.64402	D	0.000015	T	0.80984	0.4729	M	0.70275	2.135	0.49213	D	0.999765	P;P	0.48230	0.882;0.907	B;P	0.49276	0.418;0.605	T	0.82092	-0.0628	10	0.45353	T	0.12	-26.7025	13.2564	0.60081	0.0:0.1604:0.8396:0.0	.	88;88	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	88	ENSP00000421484:A88T;ENSP00000230256:A88T;ENSP00000355794:A88T	ENSP00000230256:A88T	A	+	1	0	UNC93A	167628169	0.991000	0.36638	0.833000	0.33012	0.410000	0.31052	2.345000	0.44018	2.124000	0.65301	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	1	0	0	63	780	0	166		0	0	0	0	166	2		0	0	0	0	0	2	1	1	63	752	0	162	2								-2.402340	0	1	121370	2	42	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.860000	0.670000	1.000000	1.000000	0.868068	0.860000	1	7.600000e-01	9.800000e-01
MLLT4	4301	broad.mit.edu	37	6	168299002	168299002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168299002G>T	ENST00000447894.2	+	11	1435	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.E479*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4			65		Breast(66;1.07e-05)|Ovarian(120;0.024)			GCGCATCTCAGAAACCACCAT	0.517000			T	MLL	AL										Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	0							SO:0001587	stop_gained			ENST00000447894.2	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.003798|8.003798	0.98605|0.98605	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.052104|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71281	.|0.3321	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69427	.|-0.5148	.|3	0.52906|.	T|.	0.07|.	-39.2566|-39.2566	19.5218|19.5218	0.95187|0.95187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	479;479;479;479;463;479;478;479|177	.|.	ENSP00000345834:E479X|.	E|R	+|+	1|2	0|0	MLLT4|MLLT4	168041851|168041851	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.919000|0.919000	0.55068|0.55068	9.607000|9.607000	0.98328|0.98328	2.609000|2.609000	0.88269|0.88269	0.650000|0.650000	0.86243|0.86243	GAA|AGA		TCGA-IB-7651-01A-11D-2154-08	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	1	0	0	11	198	0	52	1	9.604992e-01	5	97	0	52	2		0	0	0	0	0	2	1	9.983388e-01	11	195	0	52	2								-13.806430	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.620000	0.330000	1.000000	1.000000	0.641091	0.620000	0	4.600000e-01	8.100000e-01
MLLT4	4301	broad.mit.edu	37	6	168312006	168312006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168312006G>T	ENST00000447894.2	+	15	1874	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I|MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000366806.2_Missense_Mutation_p.S625I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4			65		Breast(66;1.07e-05)|Ovarian(120;0.024)			TATACTAATAGCTCTACAGTC	0.348000			T	MLL	AL										Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	0							SO:0001583	missense			ENST00000447894.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626529|4.626529	0.87560|0.87560	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.05025|.	3.71;3.62;3.71;3.72;3.51;3.62;3.62|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72301|.	0.3443|.	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	0.968;1.0;0.78;0.958|.	P;D;P;P|.	0.91635|.	0.661;0.999;0.673;0.772|.	T|.	0.71718|.	-0.4508|.	10|.	0.56958|.	D|.	0.05|.	-0.6453|-0.6453	19.2936|19.2936	0.94112|0.94112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323;624;625;609|.	Q96C95;P55196-5;P55196-6;P55196-2|.	.;.;.;.|.	I|Y	625;625;625;625;609;625;624;625|323	ENSP00000341118:S625I;ENSP00000252692:S625I;ENSP00000375956:S625I;ENSP00000355771:S625I;ENSP00000375960:S609I;ENSP00000383623:S624I;ENSP00000404595:S625I|.	ENSP00000345834:S625I|.	S|X	+|+	2|3	0|2	MLLT4|MLLT4	168054855|168054855	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.983000|0.983000	0.72400|0.72400	9.273000|9.273000	0.95719|0.95719	2.554000|2.554000	0.86153|0.86153	0.467000|0.467000	0.42956|0.42956	AGC|TAG		TCGA-IB-7651-01A-11D-2154-08	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	1	0	1	71	421	0	105	1	9.999776e-01	21	72	0	105	2		0	0	0	0	0	2	1	1	71	413	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT4	4301	broad.mit.edu	37	6	168352003	168352003	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168352003C>A	ENST00000447894.2	+	29	3948	c.3948C>A	c.(3946-3948)acC>acA	p.T1316T	MLLT4_ENST00000392108.3_Silent_p.T1316T|MLLT4_ENST00000351017.4_Silent_p.T1323T|MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000366806.2_Silent_p.T1316T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4			65		Breast(66;1.07e-05)|Ovarian(120;0.024)			ACTCCAGTACCTCTAGCCAGG	0.512000			T	MLL	AL										Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	0							SO:0001819	synonymous_variant			ENST00000447894.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	0	0	1	111	427	1	112	1	9.998001e-01	25	54	1	112	5		0	0	0	0	0	2	1	1	111	423	1	111	17								-3.784958	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLLT4	4301	broad.mit.edu	37	6	168363200	168363200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168363200C>T	ENST00000447894.2	+	30	4900	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	p.R1634C(1)		65		Breast(66;1.07e-05)|Ovarian(120;0.024)			AGAGGAAGAGCGCCGGCGGCA	0.547000			T	MLL	AL										Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000447894.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195144	0.38806	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.58210	3.56;0.66;3.55;0.66;0.66;0.35;0.66	4.06	3.16	0.36331	.	0.083308	0.45606	D	0.000348	T	0.54191	0.1843	L	0.57536	1.79	0.43255	D	0.995184	D;D;P	0.57571	0.966;0.98;0.95	B;P;P	0.59948	0.402;0.606;0.866	T	0.61197	-0.7111	10	0.87932	D	0	-3.5836	13.5002	0.61449	0.0:0.8355:0.1645:0.0	.	1634;1644;1632	P55196;P55196-5;P55196-6	AFAD_HUMAN;.;.	C	1646;1641;1632;1634;1617;1646;1644;1634	ENSP00000341118:R1646C;ENSP00000252692:R1641C;ENSP00000375956:R1632C;ENSP00000355771:R1634C;ENSP00000375960:R1617C;ENSP00000383623:R1644C;ENSP00000404595:R1634C	ENSP00000345834:R1646C	R	+	1	0	MLLT4	168106049	1.000000	0.71417	0.502000	0.27614	0.018000	0.09664	2.359000	0.44142	0.771000	0.33359	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	1	0	1	118	620	0	107	1	1	26	128	0	107	2		0	0	0	0	0	2	1	1	116	610	0	107	2								-20.000000	1	1	120976	2	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMD1	79981	broad.mit.edu	37	6	168461613	168461613	+	Silent	SNP	G	G	A	rs143590279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168461613G>A	ENST00000283309.6	-	9	1234	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	FRMD1_ENST00000440994.2_Silent_p.A322A|FRMD1_ENST00000537786.1_Silent_p.A161A|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1			19		Breast(66;1.07e-05)|Ovarian(120;0.0728)			CGTGGCTGTCGGCGGAGTGGC	0.642000													GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)											0							SO:0001819	synonymous_variant			ENST00000283309.6	1	1	hg19	CCDS5306.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	1	0	0	29	298	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	27	293	0	52	2								-10.088790	1	1	121396	12	47	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.710000	1.000000	1.000000	0.948372	0.990000	1	8.500000e-01	1
FRMD1	79981	broad.mit.edu	37	6	168465674	168465674	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168465674G>A	ENST00000283309.6	-	5	589	c.525C>T	c.(523-525)tgC>tgT	p.C175C	FRMD1_ENST00000440994.2_Silent_p.C107C|FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1			19		Breast(66;1.07e-05)|Ovarian(120;0.0728)			CCCGGTGAGCGCACTGTGACC	0.667000													GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)											0							SO:0001819	synonymous_variant			ENST00000283309.6	1	1	hg19	CCDS5306.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	1	0	1	29	124	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	29	124	0	29	2								-20.000000	1	1	121402	8	40	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
FRMD1	79981	broad.mit.edu	37	6	168479680	168479680	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168479680G>T	ENST00000283309.6	-	1	159	c.95C>A	c.(94-96)cCt>cAt	p.P32H		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1			19		Breast(66;1.07e-05)|Ovarian(120;0.0728)			AGGCCTCTCAGGACTGGGTTC	0.657000													GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)											0							SO:0001583	missense			ENST00000283309.6	1	1	hg19	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163027	0.38217	.	.	ENSG00000153303	ENST00000283309;ENST00000511714	D	0.82619	-1.63	2.18	0.198	0.15168	.	.	.	.	.	T	0.62925	0.2468	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.62813	0.907	T	0.56183	-0.8021	9	0.44086	T	0.13	.	4.3029	0.10933	0.5868:0.0:0.4132:0.0	.	32	Q8N878	FRMD1_HUMAN	H	32;74	ENSP00000283309:P32H	ENSP00000283309:P32H	P	-	2	0	FRMD1	168222529	0.013000	0.17824	0.012000	0.15200	0.117000	0.20001	1.721000	0.38032	0.205000	0.20568	0.313000	0.20887	CCT		TCGA-IB-7651-01A-11D-2154-08	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	0	0	0	18	437	1	66		0	0	0	1	66	2		0	0	0	0	0	2	0	3.090050e-01	18	436	1	64	22								-3.363162	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.460000	0.280000	0.690000	0.450000	0.477736	0.460000	0	3.600000e-01	5.800000e-01
SMOC2	64094	broad.mit.edu	37	6	168949822	168949822	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168949822T>C	ENST00000356284.2	+	7	796	c.576T>C	c.(574-576)cgT>cgC	p.R192R	SMOC2_ENST00000354536.5_Silent_p.R203R	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2			32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)			TTGCATCACGTTACCCTACCC	0.393000																								0							SO:0001819	synonymous_variant			ENST00000356284.2	1	1	hg19	CCDS55076.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1	1	0	1	64	339	0	97	0	1	0	219	0	97	2		0	0	0	0	0	2	1	1	62	333	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THBS2	7058	broad.mit.edu	37	6	169623504	169623504	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169623504A>C	ENST00000366787.3	-	19	3089	c.2840T>G	c.(2839-2841)gTg>gGg	p.V947G	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2			111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)			TTCAGGACACACATCATCAAT	0.428000													Esophageal Squamous(91;219 1934 18562 44706)											0							SO:0001583	missense			ENST00000366787.3	1	1	hg19	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863967	0.71949	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98493	-4.96	4.73	4.73	0.59995	.	0.000000	0.36972	U	0.002312	D	0.98642	0.9545	M	0.87456	2.885	0.80722	D	1	D	0.61080	0.989	P	0.60949	0.881	D	0.99445	1.0939	10	0.87932	D	0	-31.2608	14.2292	0.65879	1.0:0.0:0.0:0.0	.	947	P35442	TSP2_HUMAN	G	947;205	ENSP00000355751:V947G	ENSP00000355751:V947G	V	-	2	0	THBS2	169365429	1.000000	0.71417	0.996000	0.52242	0.777000	0.43975	6.838000	0.75359	1.747000	0.51819	0.386000	0.25728	GTG		TCGA-IB-7651-01A-11D-2154-08	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	1	0	1	70	374	0	99	0	1	1	2148	0	99	2		0	0	0	0	0	2	1	1	69	367	0	99	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THBS2	7058	broad.mit.edu	37	6	169625342	169625342	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169625342C>T	ENST00000366787.3	-	18	2920	c.2671G>A	c.(2671-2673)Ggc>Agc	p.G891S	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2			111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)			tcgccctggccgtctctgtca	0.582000													Esophageal Squamous(91;219 1934 18562 44706)											0							SO:0001583	missense			ENST00000366787.3	0	1	hg19	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537232	0.65085	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98362	-4.89	4.99	4.99	0.66335	.	0.000000	0.41823	U	0.000803	D	0.99233	0.9733	M	0.93720	3.45	0.58432	D	0.999992	D	0.89917	1.0	D	0.72625	0.978	D	0.99187	1.0869	10	0.87932	D	0	-58.2595	18.2818	0.90101	0.0:1.0:0.0:0.0	.	891	P35442	TSP2_HUMAN	S	891;149	ENSP00000355751:G891S	ENSP00000355751:G891S	G	-	1	0	THBS2	169367267	1.000000	0.71417	0.954000	0.39281	0.033000	0.12548	6.944000	0.75940	2.297000	0.77311	0.579000	0.79373	GGC		TCGA-IB-7651-01A-11D-2154-08	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	0	0	0	21	120	0	29	1	1	3	2274	0	29	2		0	0	0	0	0	2	1	9.999980e-01	20	116	0	29	2								-12.205370	1	1	121388	6	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999179	0.990000	1	9.900000e-01	1
THBS2	7058	broad.mit.edu	37	6	169632084	169632084	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632084G>A	ENST00000366787.3	-	14	2391	c.2142C>T	c.(2140-2142)caC>caT	p.H714H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2			111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)			CCTTGATGCAGTGGTAGGTGG	0.726000													Esophageal Squamous(91;219 1934 18562 44706)											0							SO:0001819	synonymous_variant			ENST00000366787.3	0	1	hg19	CCDS34574.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	0	0	0	6	264	0	51	0	9.999938e-01	0	1698	0	51	2		0	0	0	0	0	2	1	9.642299e-01	6	261	0	48	2								-7.282785	1	0	121402	1	24	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.270000	0.110000	0.520000	0.260000	0.293369	0.270000	0	1.800000e-01	4.000000e-01
THBS2	7058	broad.mit.edu	37	6	169634946	169634946	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169634946C>T	ENST00000366787.3	-	11	1783	c.1534G>A	c.(1534-1536)Ggt>Agt	p.G512S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2			111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)			CGGATCCCACCGGCACAGGTG	0.677000													Esophageal Squamous(91;219 1934 18562 44706)											0							SO:0001583	missense			ENST00000366787.3	1	1	hg19	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201210	0.58234	.	.	ENSG00000186340	ENST00000366787	T	0.51071	0.72	4.38	4.38	0.52667	.	0.000000	0.40469	U	0.001090	T	0.38532	0.1044	M	0.71871	2.18	0.58432	D	0.999993	P	0.36378	0.55	B	0.35278	0.199	T	0.51888	-0.8648	10	0.59425	D	0.04	-25.311	17.2925	0.87160	0.0:1.0:0.0:0.0	.	512	P35442	TSP2_HUMAN	S	512	ENSP00000355751:G512S	ENSP00000355751:G512S	G	-	1	0	THBS2	169376871	1.000000	0.71417	0.079000	0.20413	0.269000	0.26545	5.587000	0.67510	2.150000	0.67090	0.590000	0.80494	GGT		TCGA-IB-7651-01A-11D-2154-08	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	1	0	1	74	312	0	66	0	1	1	1121	0	66	2		0	0	0	0	0	2	1	1	72	302	0	66	2								-3.415967	1	1	121400	1	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR27	253769	broad.mit.edu	37	6	170058377	170058377	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170058377C>T	ENST00000448612.1	-	13	1506	c.1397G>A	c.(1396-1398)cGa>cAa	p.R466Q	WDR27_ENST00000333572.6_Missense_Mutation_p.R466Q|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.R339Q	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	p.R466L(2)		12		Breast(66;1.53e-05)|Ovarian(120;0.216)			CTGACCACGTCGCTGTTCACT	0.488000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000448612.1	1	1	hg19	CCDS47520.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.183|2.183	-0.387218|-0.387218	0.04932|0.04932	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000441385|ENST00000448612;ENST00000333572;ENST00000423258	.|T;T;T	.|0.23950	.|1.98;2.2;1.88	4.56|4.56	-7.59|-7.59	0.01308|0.01308	.|.	.|0.607232	.|0.14213	.|N	.|0.333916	T|T	0.01092|0.01092	0.0036|0.0036	N|N	0.01188|0.01188	-0.97|-0.97	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.12013	.|0.002;0.0;0.002;0.005	.|B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001	T|T	0.35351|0.35351	-0.9792|-0.9792	5|10	.|0.09084	.|T	.|0.74	-1.0366|-1.0366	2.1689|2.1689	0.03845|0.03845	0.1201:0.3153:0.1222:0.4424|0.1201:0.3153:0.1222:0.4424	.|.	.|466;436;339;466	.|F2Z2U5;A2RRH5;A2RRH5-2;C9JGV0	.|.;WDR27_HUMAN;.;.	N|Q	100|466;466;339	.|ENSP00000416289:R466Q;ENSP00000330265:R466Q;ENSP00000397869:R339Q	.|ENSP00000330265:R466Q	D|R	-|-	1|2	0|0	WDR27|WDR27	169800302|169800302	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.349000|-1.349000	0.02627|0.02627	-1.609000|-1.609000	0.01585|0.01585	-0.244000|-0.244000	0.11960|0.11960	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	1	0	1	6	33	0	14	1	8.559453e-01	4	18	0	14	2		0	0	0	0	0	2	1	9.665047e-01	6	32	0	14	2								-12.967160	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.690000	1.000000	1.000000	0.975858	0.990000	1	9.900000e-01	1
C6orf120	387263	broad.mit.edu	37	6	170102799	170102799	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170102799G>A	ENST00000332290.2	+	1	543	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000448612.1_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120			3		Breast(66;0.000338)			GTACGTCTCCGCCAGCAGCCT	0.662000																								0							SO:0001583	missense			ENST00000332290.2	1	1	hg19	CCDS34575.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886734	0.33348	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.24	5.24	0.73138	.	0.210963	0.38436	U	0.001699	T	0.06096	0.0158	N	0.11427	0.14	0.27201	N	0.960165	P;P	0.42039	0.769;0.473	B;B	0.24848	0.056;0.039	T	0.12734	-1.0536	9	0.59425	D	0.04	-24.4242	13.1613	0.59547	0.0:0.0:0.8403:0.1597	.	101;82	B4DJ79;Q7Z4R8	.;CF120_HUMAN	T	101;82	.	ENSP00000346931:A82T	A	+	1	0	C6orf120	169844724	1.000000	0.71417	0.841000	0.33234	0.015000	0.08874	7.443000	0.80521	2.591000	0.87537	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	1	0	1	84	277	0	52	1	9.999896e-01	10	48	0	52	2		0	0	0	0	0	2	1	1	84	275	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf120	387263	broad.mit.edu	37	6	170103014	170103014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170103014C>T	ENST00000332290.2	+	1	758	c.459C>T	c.(457-459)ggC>ggT	p.G153G	WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000448612.1_5'Flank|C6orf120_ENST00000439249.1_Silent_p.G172G	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120			3		Breast(66;0.000338)			CCGCCGACGGCGCAGATGCCG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000332290.2	1	1	hg19	CCDS34575.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	1	0	1	24	126	0	29	1	9.987287e-01	17	42	0	29	2		0	0	0	0	0	2	1	9.999994e-01	19	116	0	27	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999791	0.990000	1	9.900000e-01	1
PHF10	55274	broad.mit.edu	37	6	170104118	170104118	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170104118T>G	ENST00000339209.4	-	12	1601	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	PHF10_ENST00000366780.4_Missense_Mutation_p.K491T|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000423258.1_5'Flank|C6orf120_ENST00000332290.2_3'UTR|WDR27_ENST00000448612.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10			14		Breast(66;5.08e-05)|Ovarian(120;0.208)			TTTGCTGTTTTTCCCCCTTCT	0.378000																								0							SO:0001583	missense			ENST00000339209.4	1	1	hg19	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693890	0.68386	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.89746	-2.56;-2.56	5.98	4.82	0.62117	.	0.084171	0.85682	D	0.000000	T	0.81777	0.4894	N	0.25485	0.75	0.41228	D	0.986557	D;P	0.56521	0.976;0.925	P;B	0.51615	0.675;0.346	D	0.84625	0.0686	10	0.72032	D	0.01	-27.1967	11.2224	0.48864	0.0:0.0711:0.0:0.9289	.	491;493	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	T	491;493	ENSP00000355743:K491T;ENSP00000341805:K493T	ENSP00000341805:K493T	K	-	2	0	PHF10	169846043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.962000	0.70364	1.093000	0.41377	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	1	0	1	43	183	0	47	1	1	29	102	0	47	2		0	0	0	0	0	2	1	1	43	177	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF10	55274	broad.mit.edu	37	6	170118947	170118947	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170118947A>G	ENST00000339209.4	-	3	385	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10			14		Breast(66;5.08e-05)|Ovarian(120;0.208)			TGAAGCATATAGTATTCTCCT	0.303000																								0							SO:0001583	missense			ENST00000339209.4	1	1	hg19	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646541	0.87958	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	5.49	5.49	0.81192	.	.	.	.	.	T	0.45935	0.1367	M	0.69823	2.125	0.46376	D	0.999012	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.50882	-0.8775	9	0.87932	D	0	.	13.6157	0.62105	1.0:0.0:0.0:0.0	.	88;88	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	H	88	ENSP00000355743:Y88H;ENSP00000341805:Y88H	ENSP00000341805:Y88H	Y	-	1	0	PHF10	169860872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.594000	0.90836	2.199000	0.70637	0.455000	0.32223	TAT		TCGA-IB-7651-01A-11D-2154-08	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	1	0	1	78	371	0	72	1	1	39	95	0	72	2		0	0	0	0	0	2	1	1	77	362	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLL1	28514	broad.mit.edu	37	6	170592486	170592486	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592486G>A	ENST00000366756.3	-	9	2214	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)			33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)			CATTCTTGTCGGCGCTGTGGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000366756.3	1	1	hg19	CCDS5313.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1	1	0	1	118	578	0	112	0	9.885934e-01	0	36	0	112	2		0	0	0	0	0	2	1	1	118	571	0	110	2								-2.889237	1	1	121388	6	42	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLL1	28514	broad.mit.edu	37	6	170592876	170592876	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592876G>A	ENST00000366756.3	-	9	1824	c.1491C>T	c.(1489-1491)caC>caT	p.H497H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)			33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)			GGCCCCTCTCGTGGCAGGTGG	0.701000																								0							SO:0001819	synonymous_variant			ENST00000366756.3	1	1	hg19	CCDS5313.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1	1	0	1	13	55	0	14	0	7.414832e-01	0	13	0	14	2		0	0	0	0	0	2	1	9.996117e-01	12	53	0	12	2								-19.999980	1	1	120360	3	28	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998883	0.990000	1	9.900000e-01	1
FAM120B	84498	broad.mit.edu	37	6	170626923	170626923	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170626923G>T	ENST00000476287.1	+	2	553	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B			44		Breast(66;0.000338)|Esophageal squamous(34;0.241)			AAAGACACTGGGCCAGGAAAC	0.458000																								0							SO:0001583	missense			ENST00000476287.1	1	1	hg19	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160760	0.57368	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.56444	0.46;0.46;0.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70718	-0.4795	10	0.87932	D	0	-23.9753	20.6593	0.99626	0.0:0.0:1.0:0.0	.	149;149	Q96EK7;F2Z2E1	F120B_HUMAN;.	C	161;172;149	ENSP00000444125:G161C;ENSP00000440125:G172C;ENSP00000417970:G149C	ENSP00000436640:G149C	G	+	1	0	FAM120B	170468848	1.000000	0.71417	0.999000	0.59377	0.097000	0.18754	9.175000	0.94831	2.885000	0.99019	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	1	0	1	94	351	0	95	1	9.999870e-01	21	42	0	95	2		0	0	0	0	0	2	1	1	91	344	0	95	2								-3.802146	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM120B	84498	broad.mit.edu	37	6	170628015	170628015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170628015G>A	ENST00000476287.1	+	2	1645	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B			44		Breast(66;0.000338)|Esophageal squamous(34;0.241)			CATATGTACAGATCCTATATC	0.388000																								0							SO:0001583	missense			ENST00000476287.1	1	1	hg19	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571134	0.28003	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08282	3.12;3.11;3.13	2.48	2.48	0.30137	.	2.356560	0.01316	N	0.010789	T	0.12263	0.0298	L	0.56769	1.78	0.19575	N	0.999965	D;D	0.76494	0.999;0.978	D;P	0.68943	0.961;0.556	T	0.36792	-0.9733	10	0.21540	T	0.41	.	11.0653	0.47972	0.0:0.0:1.0:0.0	.	513;513	Q96EK7;F2Z2E1	F120B_HUMAN;.	N	525;536;513	ENSP00000444125:D525N;ENSP00000440125:D536N;ENSP00000417970:D513N	ENSP00000436640:D513N	D	+	1	0	FAM120B	170469940	0.014000	0.17966	0.011000	0.14972	0.029000	0.11900	0.501000	0.22578	1.683000	0.51011	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	1	0	1	75	401	0	95	1	9.999982e-01	22	81	0	95	2		0	0	0	0	0	2	1	1	75	394	0	94	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBP	6908	broad.mit.edu	37	6	170881346	170881346	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170881346C>T	ENST00000392092.2	+	8	1292	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	TBP_ENST00000230354.6_Missense_Mutation_p.T338M|TBP_ENST00000540980.1_Missense_Mutation_p.T318M	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein			26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)			TTCAGGAAGACGACGTAATGG	0.393000																								0							SO:0001583	missense			ENST00000392092.2	1	1	hg19	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235125	0.58886	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67197	-0.5731	9	0.54805	T	0.06	-13.7474	20.3932	0.98965	0.0:1.0:0.0:0.0	.	338	P20226	TBP_HUMAN	M	338;318;338;315	.	ENSP00000230354:T338M	T	+	2	0	TBP	170723271	1.000000	0.71417	0.968000	0.41197	0.397000	0.30659	7.224000	0.78042	2.824000	0.97209	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	1	0	1	61	329	0	88	1	9.999129e-01	18	57	0	88	2		0	0	0	0	0	2	1	1	59	315	0	84	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAP2	10486	broad.mit.edu	37	6	17426835	17426835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17426835G>A	ENST00000229922.2	+	3	668	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000493172.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)			27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)		GGCACCCTCCGTGGAAGCCTT	0.527000																								0							SO:0001583	missense			ENST00000229922.2	1	1	hg19	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093368	0.76756	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.37915	1.17;1.17;1.17;2.42;1.17	5.57	5.57	0.84162	Adenylate cyclase-associated CAP, N-terminal (2);	0.249150	0.41396	D	0.000897	T	0.56746	0.2006	M	0.84773	2.715	0.29975	N	0.81823	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.996;0.941	D;D;D;P;B	0.87578	0.998;0.997;0.998;0.826;0.257	T	0.59257	-0.7488	10	0.62326	D	0.03	-18.492	16.447	0.83937	0.0:0.0:1.0:0.0	.	46;46;46;46;46	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	M	46	ENSP00000229922:V46M;ENSP00000417705:V46M;ENSP00000368275:V46M;ENSP00000417208:V46M;ENSP00000418604:V46M	ENSP00000229922:V46M	V	+	1	0	CAP2	17534814	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	2.323000	0.43823	2.626000	0.88956	0.591000	0.81541	GTG		TCGA-IB-7651-01A-11D-2154-08	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2	1	0	1	70	337	0	88	1	9.679371e-01	4	25	0	88	2		0	0	0	0	0	2	1	1	68	319	0	87	2								-3.180279	1	1	121412	3	36	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP153	9972	broad.mit.edu	37	6	17626368	17626368	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17626368C>G	ENST00000262077.2	-	19	3571	c.3572G>C	c.(3571-3573)aGt>aCt	p.S1191T	NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa			53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)		GTTCAAGAAACTAAAAACTGG	0.413000																								0							SO:0001583	missense			ENST00000262077.2	1	1	hg19	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021807	0.35701	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.14516	2.55;2.5	5.39	-1.33	0.09172	.	0.331489	0.25753	N	0.028540	T	0.07007	0.0178	M	0.72894	2.215	0.39995	D	0.975091	P;B;P	0.42078	0.607;0.397;0.77	B;B;B	0.39590	0.304;0.146;0.219	T	0.17623	-1.0363	10	0.38643	T	0.18	-2.401	10.9874	0.47530	0.0:0.558:0.0:0.442	.	1222;1171;1191	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	T	1191;1171;1222	ENSP00000262077:S1191T;ENSP00000444029:S1222T	ENSP00000262077:S1191T	S	-	2	0	NUP153	17734347	0.979000	0.34478	0.957000	0.39632	0.861000	0.49209	0.010000	0.13242	-0.197000	0.10350	-0.244000	0.11960	AGT		TCGA-IB-7651-01A-11D-2154-08	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1	1	0	1	42	173	0	57	1	9.999994e-01	28	67	0	57	2		0	0	0	0	0	2	1	1	41	167	0	57	2								-3.488937	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP153	9972	broad.mit.edu	37	6	17661976	17661976	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17661976C>A	ENST00000262077.2	-	11	1302	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa			53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)		AAACCATTGGCTGCAGGCAAA	0.398000																								0							SO:0001583	missense			ENST00000262077.2	1	1	hg19	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867447	0.32977	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.31769	1.48;1.48	5.62	4.74	0.60224	Nucleoporin, Nup153-like (1);	0.149996	0.31113	N	0.008233	T	0.06690	0.0171	N	0.05414	-0.055	0.41898	D	0.990406	B;B;B	0.21688	0.047;0.059;0.046	B;B;B	0.29353	0.025;0.101;0.031	T	0.22556	-1.0213	10	0.16420	T	0.52	-0.5263	8.1593	0.31190	0.1977:0.7191:0.0:0.0832	.	435;457;435	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	435;457;435	ENSP00000262077:A435S;ENSP00000444029:A435S	ENSP00000262077:A435S	A	-	1	0	NUP153	17769955	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.060000	0.41394	2.809000	0.96659	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1	1	0	1	118	519	0	137	1	9.999977e-01	28	54	0	137	2		0	0	0	0	0	2	1	1	113	509	0	136	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP153	9972	broad.mit.edu	37	6	17688685	17688685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17688685C>A	ENST00000262077.2	-	2	275	c.276G>T	c.(274-276)gaG>gaT	p.E92D	NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa			53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)		TATTAGAGCTCTCCTCATCGG	0.413000																								0							SO:0001583	missense			ENST00000262077.2	1	1	hg19	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	4.533	0.098993	0.08681	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.10668	2.85;2.89	5.25	0.691	0.18045	.	0.000000	0.50627	D	0.000115	T	0.01695	0.0054	L	0.40543	1.245	0.25779	N	0.984748	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.46442	-0.9191	10	0.16420	T	0.52	-7.7884	0.6079	0.00756	0.2222:0.2519:0.3015:0.2244	.	92;114;92	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	92;114;92	ENSP00000262077:E92D;ENSP00000444029:E92D	ENSP00000262077:E92D	E	-	3	2	NUP153	17796664	0.957000	0.32711	0.554000	0.28268	0.009000	0.06853	0.230000	0.17852	0.188000	0.20168	-0.156000	0.13503	GAG		TCGA-IB-7651-01A-11D-2154-08	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1	1	0	1	34	402	0	84	1	9.699137e-01	12	56	0	84	2		0	0	0	0	0	2	1	1	34	392	0	83	2								-9.609350	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.900000	0.640000	1.000000	1.000000	0.887270	0.900000	1	7.600000e-01	1
KIF13A	63971	broad.mit.edu	37	6	17777518	17777518	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17777518T>A	ENST00000259711.6	-	34	4265	c.4160A>T	c.(4159-4161)aAt>aTt	p.N1387I	KIF13A_ENST00000378814.5_Missense_Mutation_p.N1374I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I|KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A			64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)		ATTATGAACATTTGGTGTACT	0.478000																								0							SO:0001583	missense			ENST00000259711.6	0	1	hg19	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.859464|5.859464	0.97036|0.97036	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T;T	.|0.74315	.|-0.79;1.52;-0.83;-0.79;-0.79;-0.79	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84492|0.84492	0.5484|0.5484	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;1.0;0.998;1.0	.|D;D;D;D	.|0.91635	.|0.934;0.999;0.969;0.998	D|D	0.87022|0.87022	0.2129|0.2129	5|10	.|0.87932	.|D	.|0	.|.	16.0773|16.0773	0.80976|0.80976	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1374;1387;1387;1374	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	L|I	781|1374;391;1387;1387;1374;1387	.|ENSP00000368091:N1374I;ENSP00000425616:N391I;ENSP00000259711:N1387I;ENSP00000368103:N1387I;ENSP00000368120:N1374I;ENSP00000368093:N1387I	.|ENSP00000259711:N1387I	M|N	-|-	1|2	0|0	KIF13A|KIF13A	17885497|17885497	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.992000|0.992000	0.81027|0.81027	7.655000|7.655000	0.83696|0.83696	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	ATG|AAT		TCGA-IB-7651-01A-11D-2154-08	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4	1	0	0	6	64	0	16	1	9.567695e-01	13	51	0	16	2		0	0	0	0	0	2	1	9.672288e-01	6	64	0	16	2								-11.325590	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.980000	0.430000	1.000000	1.000000	0.873752	0.980000	1	6.700000e-01	1
KIF13A	63971	broad.mit.edu	37	6	17788054	17788054	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17788054C>T	ENST00000259711.6	-	27	3419	c.3314G>A	c.(3313-3315)cGa>cAa	p.R1105Q	KIF13A_ENST00000378814.5_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A			64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)		GTATTCTCGTCGTTTAATGAG	0.393000																								0							SO:0001583	missense			ENST00000259711.6	1	1	hg19	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.779455|5.779455	0.96929|0.96929	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.79554	.|-1.27;0.99;-1.28;-1.25;-1.27;-1.25	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89455|0.89455	0.6720|0.6720	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.987;0.998;0.999;0.998	D|D	0.89481|0.89481	0.3750|0.3750	5|10	.|0.87932	.|D	.|0	.|.	20.2723|20.2723	0.98479|0.98479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1092;1105;1105;1092	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	N|Q	499|1092;109;1105;1105;1092;1105;103	.|ENSP00000368091:R1092Q;ENSP00000425616:R109Q;ENSP00000259711:R1105Q;ENSP00000368103:R1105Q;ENSP00000368120:R1092Q;ENSP00000368093:R1105Q	.|ENSP00000259711:R1105Q	D|R	-|-	1|2	0|0	KIF13A|KIF13A	17896033|17896033	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.966000|0.966000	0.64601|0.64601	7.776000|7.776000	0.85560|0.85560	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4	1	0	1	104	512	0	82	1	9.999970e-01	13	77	0	82	2		0	0	0	0	0	2	1	1	102	507	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF13A	63971	broad.mit.edu	37	6	17826038	17826038	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17826038C>T	ENST00000259711.6	-	16	1852	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	KIF13A_ENST00000378814.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A			64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)		TCCATCTGTGCAAATTCATAG	0.468000																								0							SO:0001583	missense			ENST00000259711.6	1	1	hg19	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610702	0.96637	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;0.998	D;D;D;D;D	0.80764	0.994;0.931;0.982;0.988;0.937	D	0.89111	0.3496	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	554;583;583;583;583	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	T	583	ENSP00000368091:A583T;ENSP00000259711:A583T;ENSP00000368103:A583T;ENSP00000368120:A583T;ENSP00000368093:A583T	ENSP00000259711:A583T	A	-	1	0	KIF13A	17934017	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.432000	0.80349	2.894000	0.99253	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4	1	0	1	88	385	0	100	1	9.998880e-01	7	53	0	100	2		0	0	0	0	0	2	1	1	86	380	0	99	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF13A	63971	broad.mit.edu	37	6	17850613	17850613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17850613G>A	ENST00000259711.6	-	8	763	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	KIF13A_ENST00000378814.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A			64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)		GCATGGGAGCGGCTGCTTTCT	0.468000																								0							SO:0001583	missense			ENST00000259711.6	1	1	hg19	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263361	0.95399	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.78	5.78	0.91487	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	H	0.99650	4.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98633	1.0672	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	220;220;220;220	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	C	220	ENSP00000368091:R220C;ENSP00000259711:R220C;ENSP00000368103:R220C;ENSP00000368120:R220C;ENSP00000368093:R220C	ENSP00000259711:R220C	R	-	1	0	KIF13A	17958592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.724000	0.93272	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4	1	0	1	40	195	0	41	1	9.989713e-01	9	45	0	41	2		0	0	0	0	0	2	1	1	39	189	0	40	2								-3.285855	1	1	120856	1	25	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NHLRC1	378884	broad.mit.edu	37	6	18122317	18122317	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18122317A>C	ENST00000340650.3	-	1	534	c.521T>G	c.(520-522)aTt>aGt	p.I174S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1			11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)		AGGGTACCTAATGTCTTGGGC	0.552000																								0							SO:0001583	missense			ENST00000340650.3	1	1	hg19	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977934	0.34942	.	.	ENSG00000187566	ENST00000340650	D	0.89939	-2.59	4.99	3.8	0.43715	Six-bladed beta-propeller, TolB-like (1);	0.376634	0.25402	N	0.030924	T	0.76147	0.3947	L	0.43152	1.355	0.34863	D	0.742812	B	0.34015	0.435	B	0.32624	0.149	T	0.74290	-0.3713	10	0.72032	D	0.01	-2.1043	10.6441	0.45610	0.8561:0.0:0.0:0.1438	.	174	Q6VVB1	NHLC1_HUMAN	S	174	ENSP00000345464:I174S	ENSP00000345464:I174S	I	-	2	0	NHLRC1	18230296	0.997000	0.39634	0.862000	0.33874	0.540000	0.34992	8.407000	0.90218	0.704000	0.31869	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1	1	0	1	75	317	0	83	1	7.786112e-01	3	11	0	83	2		0	0	0	0	0	2	1	1	74	317	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM1B	221656	broad.mit.edu	37	6	18197423	18197423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18197423G>A	ENST00000297792.5	+	9	886	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M|KDM1B_ENST00000388870.2_Missense_Mutation_p.V369M|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B			25					AGTTCTCAGCGTGGGAGCCGA	0.478000																								0							SO:0001583	missense			ENST00000297792.5	1	1	hg19	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609532	0.87258	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.33438	1.43;1.41;1.41	5.97	5.97	0.96955	Homeodomain-like (1);SWIRM (1);	0.433457	0.23626	N	0.046194	T	0.41994	0.1183	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.66602	0.469;0.945	T	0.11717	-1.0576	10	0.54805	T	0.06	-19.5281	20.4135	0.99023	0.0:0.0:1.0:0.0	.	369;237	Q8NB78;A2A2C6	KDM1B_HUMAN;.	M	369;237;237;369	ENSP00000373522:V369M;ENSP00000380419:V237M;ENSP00000297792:V237M	ENSP00000297792:V237M	V	+	1	0	KDM1B	18305402	1.000000	0.71417	0.283000	0.24790	0.995000	0.86356	9.395000	0.97266	2.835000	0.97688	0.591000	0.81541	GTG		TCGA-IB-7651-01A-11D-2154-08	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	1	0	1	38	195	0	54	1	9.889073e-01	11	28	0	54	2		0	0	0	0	0	2	1	1	38	192	0	53	2								-20.000000	1	1	121412	1	29	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
KDM1B	221656	broad.mit.edu	37	6	18208416	18208416	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18208416C>T	ENST00000297792.5	+	13	1326	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	KDM1B_ENST00000397244.1_Silent_p.G384G|KDM1B_ENST00000388870.2_Silent_p.G616G|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B			25					CTACAGATGGCACAGGGTATT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000297792.5	1	1	hg19	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	9.526	1.109624	0.20714	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.16	0.175	0.15045	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	-3.398	1.9357	0.03336	0.1705:0.2963:0.328:0.2052	.	.	.	.	V	433	.	.	A	+	2	0	KDM1B	18316395	0.002000	0.14202	0.050000	0.19076	0.510000	0.34073	-0.669000	0.05262	0.065000	0.16485	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	1	0	1	68	343	0	94	1	9.993315e-01	15	42	0	94	2		0	0	0	0	0	2	1	1	68	332	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM1B	221656	broad.mit.edu	37	6	18215253	18215253	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215253C>A	ENST00000297792.5	+	16	1606	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M	KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M|KDM1B_ENST00000388870.2_Missense_Mutation_p.L710M|KDM1B_ENST00000546309.2_5'UTR			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B			25					GCACAGCGTGCTGATGTCTGT	0.527000																								0							SO:0001583	missense			ENST00000297792.5	1	1	hg19	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.189827|3.189827	0.57909|0.57909	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000449850|ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	.|D;D;D	.|0.95788	.|-3.81;-3.81;-3.81	5.99|5.99	-7.43|-7.43	0.01383|0.01383	.|Amine oxidase (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|D	.|0.97586	.|0.9209	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.991	.|D	.|0.97776	.|1.0229	.|10	.|0.72032	.|D	.|0.01	-15.261|-15.261	18.1844|18.1844	0.89788|0.89788	0.0:0.2132:0.0:0.7868|0.0:0.2132:0.0:0.7868	.|.	.|526;709;477	.|A2A2C4;Q8NB78;A2A2C6	.|.;KDM1B_HUMAN;.	X|M	526|710;478;477;707	.|ENSP00000373522:L710M;ENSP00000380419:L478M;ENSP00000297792:L477M	.|ENSP00000297792:L477M	C|L	+|+	3|1	2|2	KDM1B|KDM1B	18323232|18323232	0.968000|0.968000	0.33430|0.33430	0.539000|0.539000	0.28077|0.28077	0.688000|0.688000	0.40055|0.40055	0.250000|0.250000	0.18235|0.18235	-1.606000|-1.606000	0.01591|0.01591	-0.806000|-0.806000	0.03193|0.03193	TGC|CTG		TCGA-IB-7651-01A-11D-2154-08	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	1	0	1	54	255	0	49	1	9.833492e-01	6	27	0	49	2		0	0	0	0	0	2	1	1	52	246	0	49	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM1B	221656	broad.mit.edu	37	6	18215342	18215342	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215342G>T	ENST00000297792.5	+	16	1695	c.1518G>T	c.(1516-1518)cgG>cgT	p.R506R	KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000388870.2_Silent_p.R739R|KDM1B_ENST00000546309.2_Silent_p.R29R			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B			25					CCACGCTCCGGGAGCTGTTCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000297792.5	1	1	hg19	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234472	0.22626	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.99	3.09	0.35607	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15549	-1.0433	4	.	.	.	-16.0584	3.8774	0.09062	0.1203:0.4065:0.3342:0.139	.	.	.	.	V	556	.	.	G	+	2	0	KDM1B	18323321	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.073000	0.30691	0.352000	0.24053	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	1	0	1	29	169	0	34	1	9.958687e-01	16	37	0	34	2		0	0	0	0	0	2	1	1	28	167	0	33	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999756	0.990000	1	9.900000e-01	1
RNF144B	255488	broad.mit.edu	37	6	18439941	18439941	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18439941G>A	ENST00000259939.3	+	4	614	c.297G>A	c.(295-297)caG>caA	p.Q99Q	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B			11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)		CTGTGGACCAGTTTCAACTTT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000259939.3	1	1	hg19	CCDS34345.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039965.2	1	0	1	42	216	0	62	0	8.566955e-01	0	20	0	62	2		0	0	0	0	0	2	1	1	41	211	0	62	2								-19.996610	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
MBOAT1	154141	broad.mit.edu	37	6	20102597	20102597	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20102597A>T	ENST00000324607.7	-	13	1572	c.1408T>A	c.(1408-1410)Ttt>Att	p.F470I	MBOAT1_ENST00000541730.1_Missense_Mutation_p.F321I	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1			20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		ATTGGCAGAAATAGTATTATC	0.353000																								0							SO:0001583	missense			ENST00000324607.7	1	1	hg19	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	A	2.735	-0.263539	0.05754	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.19105	2.17;2.61	5.03	1.06	0.20224	.	0.592069	0.18066	N	0.152795	T	0.02571	0.0078	N	0.20685	0.6	0.29436	N	0.859493	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.43893	-0.9363	10	0.11182	T	0.66	-8.0088	3.0293	0.06102	0.5593:0.0:0.1877:0.253	.	321;470	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	I	321;470	ENSP00000441568:F321I;ENSP00000324944:F470I	ENSP00000324944:F470I	F	-	1	0	MBOAT1	20210576	0.003000	0.15002	0.271000	0.24616	0.953000	0.61014	-0.053000	0.11846	0.466000	0.27193	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1	1	0	1	83	346	0	76	1	9.998746e-01	23	34	0	76	2		0	0	0	0	0	2	1	1	82	333	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
E2F3	1871	broad.mit.edu	37	6	20402509	20402509	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20402509G>A	ENST00000346618.3	+	1	112	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3			7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		CCTGGTGACCGCCGGGGGTGG	0.607000																								0							SO:0001583	missense			ENST00000346618.3	0	1	hg19	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005005	0.74932	.	.	ENSG00000112242	ENST00000346618	T	0.09163	3.01	4.34	4.34	0.51931	.	0.113819	0.38058	N	0.001839	T	0.09202	0.0227	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.42965	-0.9420	10	0.56958	D	0.05	.	15.8346	0.78789	0.0:0.0:1.0:0.0	.	16	O00716	E2F3_HUMAN	T	16	ENSP00000262904:A16T	ENSP00000262904:A16T	A	+	1	0	E2F3	20510488	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.000000	0.12993	2.241000	0.73720	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1	1	0	0	17	148	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.999711e-01	17	146	0	10	2								-8.654429	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.730000	1.000000	1.000000	0.970800	0.990000	1	9.300000e-01	1
CDKAL1	54901	broad.mit.edu	37	6	20546630	20546630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20546630G>A	ENST00000378610.1	+	1	59	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CDKAL1_ENST00000274695.4_Missense_Mutation_p.V17M|CDKAL1_ENST00000378624.4_5'UTR			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1			29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		CGAAGATATCGTGTCTCAGGA	0.368000																								0							SO:0001583	missense			ENST00000378610.1	1	1	hg19	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137874	0.56936	.	.	ENSG00000145996	ENST00000274695;ENST00000378610	T;T	0.47528	0.84;0.84	5.5	4.62	0.57501	.	0.064498	0.64402	D	0.000009	T	0.47710	0.1460	M	0.67397	2.05	0.80722	D	1	P;D	0.54397	0.936;0.966	P;P	0.52672	0.528;0.706	T	0.55412	-0.8145	10	0.66056	D	0.02	.	13.5669	0.61824	0.0751:0.0:0.9249:0.0	.	17;17	Q5VV42;Q5VV42-3	CDKAL_HUMAN;.	M	17	ENSP00000274695:V17M;ENSP00000367873:V17M	ENSP00000274695:V17M	V	+	1	0	CDKAL1	20654609	1.000000	0.71417	0.946000	0.38457	0.293000	0.27360	3.994000	0.56994	1.529000	0.49120	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	1	0	1	83	322	0	84	1	9.998344e-01	8	44	0	84	2		0	0	0	0	0	2	1	1	78	315	0	82	2								-20.000000	1	1	121412	15	42	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDKAL1	54901	broad.mit.edu	37	6	20781393	20781393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20781393C>T	ENST00000378610.1	+	6	545	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000274695.4_Silent_p.L179L|CDKAL1_ENST00000378624.4_Silent_p.L109L			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1			29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		TGTGAGACTGCTGGGTCAGAA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000378610.1	1	1	hg19	CCDS4546.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	1	0	1	82	390	0	96	1	9.988528e-01	12	38	0	96	2		0	0	0	0	0	2	1	1	81	380	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRL	5617	broad.mit.edu	37	6	22290448	22290448	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290448C>T	ENST00000306482.1	-	4	965	c.447G>A	c.(445-447)gaG>gaA	p.E149E	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin			16	Ovarian(93;0.163)				GTTTGGTTTGCTCCTCAATCT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000306482.1	1	1	hg19	CCDS4548.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	1	0	1	57	315	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	57	310	0	67	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DCDC2	51473	broad.mit.edu	37	6	24291177	24291177	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24291177C>T	ENST00000378454.3	-	5	988	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2			32		Ovarian(999;0.101)			GCCTTCTCATCGTTGACTTGT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000378454.3	1	1	hg19	CCDS4550.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	1	0	1	37	172	0	40	1	9.920434e-01	14	24	0	40	2		0	0	0	0	0	2	1	1	36	163	0	40	2								-20.000000	1	1	121412	1	28	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
GPLD1	2822	broad.mit.edu	37	6	24429337	24429337	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24429337C>T	ENST00000230036.1	-	25	2556	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1			32					GCAGCAATGACGACTTGGTTC	0.468000																								0							SO:0001583	missense			ENST00000230036.1	0	1	hg19	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850426	0.17034	.	.	ENSG00000112293	ENST00000230036	T	0.69040	-0.37	5.29	4.42	0.53409	.	0.086699	0.48767	N	0.000172	T	0.32526	0.0832	L	0.36672	1.1	0.80722	D	1	B	0.26708	0.157	B	0.15052	0.012	T	0.26744	-1.0094	10	0.08179	T	0.78	-25.2769	12.953	0.58411	0.0:0.9208:0.0:0.0792	.	816	P80108	PHLD_HUMAN	I	816	ENSP00000230036:V816I	ENSP00000230036:V816I	V	-	1	0	GPLD1	24537316	0.998000	0.40836	0.947000	0.38551	0.058000	0.15608	2.947000	0.49058	1.460000	0.47911	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	0	0	1	26	149	1	47	0	1.714787e-01	1	4	1	47	2		0	0	0	0	0	2	1	9.903956e-01	26	147	1	47	13								-3.339614	1	1	121406	2	28	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999645	0.990000	1	9.900000e-01	1
ALDH5A1	7915	broad.mit.edu	37	6	24515440	24515440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24515440C>T	ENST00000357578.3	+	5	917	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1			20				Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CAATGTTATTCCCTGTTCTCG	0.403000																								0							SO:0001583	missense			ENST00000357578.3	1	1	hg19	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107257	0.56291	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.33	5.33	0.75918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	L	0.28054	0.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.969	T	0.79065	-0.1956	10	0.72032	D	0.01	-12.4064	19.2129	0.93765	0.0:1.0:0.0:0.0	.	258;271	P51649;G5E949	SSDH_HUMAN;.	S	258;170;230;271	ENSP00000350191:P258S;ENSP00000438193:P170S;ENSP00000417687:P230S;ENSP00000314649:P271S	ENSP00000314649:P271S	P	+	1	0	ALDH5A1	24623419	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	6.635000	0.74295	2.778000	0.95560	0.591000	0.81541	CCC		TCGA-IB-7651-01A-11D-2154-08	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2	1	0	1	88	470	0	95	1	8.800934e-01	9	13	0	95	2		0	0	0	0	0	2	1	1	84	448	0	95	2								-3.321321	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0319	9856	broad.mit.edu	37	6	24572854	24572854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24572854C>A	ENST00000378214.3	-	11	2331	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y|KIAA0319_ENST00000535378.1_Missense_Mutation_p.D594Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319			53					CTTGAAGAATCTGTCACCTTC	0.413000																								0							SO:0001583	missense			ENST00000378214.3	1	1	hg19	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838829	0.71373	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.31	4.31	0.51392	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (3);	0.075859	0.52532	D	0.000064	T	0.59128	0.2171	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.78226	-0.2286	10	0.87932	D	0	-16.8604	16.9707	0.86298	0.0:1.0:0.0:0.0	.	603;594;603	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Y	603;594;558;603;603	ENSP00000439700:D603Y;ENSP00000442403:D594Y;ENSP00000401086:D558Y;ENSP00000367459:D603Y;ENSP00000437656:D603Y	ENSP00000367459:D603Y	D	-	1	0	KIAA0319	24680833	1.000000	0.71417	0.996000	0.52242	0.603000	0.37013	6.823000	0.75282	2.207000	0.71202	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	1	0	1	54	208	0	58	0	1.132075e-01	0	3	0	58	2		0	0	0	0	0	2	1	1	53	198	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TDP2	51567	broad.mit.edu	37	6	24651141	24651141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24651141C>T	ENST00000378198.4	-	7	1134	c.964G>A	c.(964-966)Gca>Aca	p.A322T	TDP2_ENST00000545995.1_Missense_Mutation_p.A352T|TDP2_ENST00000341060.3_Missense_Mutation_p.A264T			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2			9					TCTGCTGCTGCTCTGAAAAAT	0.403000								Direct reversal of damage																0							SO:0001583	missense			ENST00000378198.4	1	1	hg19	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984956	0.35036	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.21734	1.99;1.99;1.99	5.46	1.1	0.20463	Endonuclease/exonuclease/phosphatase (2);	0.225345	0.46758	N	0.000261	T	0.03959	0.0111	L	0.33485	1.01	0.30381	N	0.781984	B	0.14805	0.011	B	0.17433	0.018	T	0.44034	-0.9354	10	0.15066	T	0.55	-24.3697	6.417	0.21721	0.093:0.6123:0.1402:0.1545	.	322	O95551	TYDP2_HUMAN	T	322;352;244;264	ENSP00000367440:A322T;ENSP00000437637:A352T;ENSP00000345345:A264T	ENSP00000345345:A264T	A	-	1	0	TDP2	24759120	0.997000	0.39634	0.997000	0.53966	0.980000	0.70556	1.004000	0.29822	0.222000	0.20900	-0.140000	0.14226	GCA		TCGA-IB-7651-01A-11D-2154-08	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1	1	0	1	55	213	0	46	1	1	37	159	0	46	2		0	0	0	0	0	2	1	1	54	210	0	46	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf62	81688	broad.mit.edu	37	6	24709066	24709066	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24709066C>A	ENST00000378119.4	-	4	2670	c.503G>T	c.(502-504)gGa>gTa	p.G168V	RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V|C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62			10					GACAACGATTCCAGTCTTGTC	0.383000																								0							SO:0001583	missense			ENST00000378119.4	1	1	hg19	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493228	0.96339	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.50001	0.76;0.76;0.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56823	-0.7915	10	0.87932	D	0	-7.5051	20.8794	0.99867	0.0:1.0:0.0:0.0	.	168	Q9GZU0	CF062_HUMAN	V	168;110;139	ENSP00000367359:G168V;ENSP00000446225:G110V;ENSP00000367342:G139V	ENSP00000367342:G139V	G	-	2	0	C6orf62	24817045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.739000	0.84976	2.941000	0.99782	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	0	0	0	18	600	0	110	1	9.999669e-01	16	562	0	110	2		0	0	0	0	0	2	1	9.999763e-01	18	581	0	108	2								-3.229107	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.340000	0.200000	0.510000	0.330000	0.351938	0.340000	0	2.600000e-01	4.300000e-01
LRRC16A	55604	broad.mit.edu	37	6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25450163C>T	ENST00000329474.6	+	6	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A			50					GCCATCTGAGCGCCTGGCTAG	0.468000																								0							SO:0001583	missense			ENST00000329474.6	1	1	hg19	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021304	0.75275	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.21734	1.99	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.13710	-1.0499	10	0.52906	T	0.07	.	15.3826	0.74673	0.2163:0.7837:0.0:0.0	.	137;137;137	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	C	137	ENSP00000331983:R137C	ENSP00000331983:R137C	R	+	1	0	LRRC16A	25558142	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.281000	0.33214	2.824000	0.97209	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1	26	128	0	18	1	9.957296e-01	9	37	0	18	2		0	0	0	0	0	2	1	1	26	127	0	18	2								-16.006860	1	1	120800	2	34	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999916	0.990000	1	9.900000e-01	1
LRRC16A	55604	broad.mit.edu	37	6	25466164	25466164	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25466164G>T	ENST00000329474.6	+	9	1046	c.678G>T	c.(676-678)aaG>aaT	p.K226N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A			50					TGTCCTCTAAGGATCTAAAAC	0.363000																								0							SO:0001583	missense			ENST00000329474.6	1	1	hg19	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232859	0.39498	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.52983	0.64;0.64	5.89	5.02	0.67125	.	0.048959	0.85682	D	0.000000	T	0.34483	0.0899	L	0.50333	1.59	0.48087	D	0.999589	P;P;P;P	0.46987	0.868;0.469;0.888;0.589	B;B;P;B	0.47915	0.358;0.253;0.561;0.288	T	0.10894	-1.0610	10	0.22706	T	0.39	.	13.3814	0.60768	0.0724:0.0:0.9276:0.0	.	226;226;226;65	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	N	226;226;65	ENSP00000331983:K226N;ENSP00000367206:K65N	ENSP00000331983:K226N	K	+	3	2	LRRC16A	25574143	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	5.750000	0.68712	1.508000	0.48769	-0.141000	0.14075	AAG		TCGA-IB-7651-01A-11D-2154-08	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1	90	389	0	123	1	9.974054e-01	10	31	0	123	2		0	0	0	0	0	2	1	1	88	378	0	123	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC16A	55604	broad.mit.edu	37	6	25488745	25488745	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25488745C>T	ENST00000329474.6	+	13	1365	c.997C>T	c.(997-999)Cca>Tca	p.P333S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A			50					CAGTGCCAATCCATTGACCGC	0.468000																								0							SO:0001583	missense			ENST00000329474.6	1	1	hg19	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246328	0.22796	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54675	0.56	4.99	4.13	0.48395	.	0.321867	0.33610	N	0.004730	T	0.16514	0.0397	N	0.22421	0.69	0.80722	D	1	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.19148	0.004;0.004;0.024	T	0.08827	-1.0703	10	0.08381	T	0.77	.	10.5987	0.45354	0.0:0.8302:0.0:0.1698	.	333;333;333	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	S	333	ENSP00000331983:P333S	ENSP00000331983:P333S	P	+	1	0	LRRC16A	25596724	1.000000	0.71417	0.868000	0.34077	0.725000	0.41563	5.489000	0.66875	1.230000	0.43646	-0.136000	0.14681	CCA		TCGA-IB-7651-01A-11D-2154-08	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1	121	558	0	159	1	9.999420e-01	21	45	0	159	2		0	0	0	0	0	2	1	1	118	547	0	158	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC16A	55604	broad.mit.edu	37	6	25495362	25495362	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25495362C>T	ENST00000329474.6	+	16	1612	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A			50					GTACCTCCATCTTTCAAGCAA	0.373000																								0							SO:0001583	missense			ENST00000329474.6	1	1	hg19	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913803	0.92178	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54279	0.58	5.4	5.4	0.78164	.	0.101931	0.64402	D	0.000001	T	0.67599	0.2910	M	0.74467	2.265	0.80722	D	1	D;D;D	0.71674	0.993;0.996;0.998	P;P;D	0.63703	0.877;0.851;0.917	T	0.70550	-0.4841	10	0.72032	D	0.01	.	19.5422	0.95278	0.0:1.0:0.0:0.0	.	415;415;415	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	F	415	ENSP00000331983:S415F	ENSP00000331983:S415F	S	+	2	0	LRRC16A	25603341	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	6.980000	0.76160	2.695000	0.91970	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1	40	238	0	62	1	9.985921e-01	14	48	0	62	2		0	0	0	0	0	2	1	1	40	236	0	62	2								-19.318390	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
LRRC16A	55604	broad.mit.edu	37	6	25515950	25515950	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25515950C>A	ENST00000329474.6	+	21	2048	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A			50					AGACTGAGGTCACCATCATCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000329474.6	1	1	hg19	CCDS54973.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	1	0	1	14	55	0	22	1	9.997607e-01	21	43	0	22	2		0	0	0	0	0	2	1	9.998084e-01	13	53	0	21	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999337	0.990000	1	9.900000e-01	1
SCGN	10590	broad.mit.edu	37	6	25670258	25670258	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25670258A>T	ENST00000377961.2	+	6	593	c.425A>T	c.(424-426)aAa>aTa	p.K142I	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein			24					CTTCACCACAAAAAGGCCATT	0.453000																								0							SO:0001583	missense			ENST00000377961.2	1	1	hg19	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.218045	0.39201	.	.	ENSG00000079689	ENST00000377961	T	0.10382	2.88	5.6	1.81	0.25067	EF-hand-like domain (1);	0.407309	0.30859	N	0.008740	T	0.09423	0.0232	M	0.84585	2.705	0.44643	D	0.997626	B	0.23249	0.082	B	0.32022	0.139	T	0.02404	-1.1164	10	0.66056	D	0.02	.	11.0391	0.47820	0.7965:0.0:0.2035:0.0	.	142	O76038	SEGN_HUMAN	I	142	ENSP00000367197:K142I	ENSP00000367197:K142I	K	+	2	0	SCGN	25778237	0.009000	0.17119	0.185000	0.23176	0.961000	0.63080	1.379000	0.34340	-0.163000	0.10946	-1.450000	0.01041	AAA		TCGA-IB-7651-01A-11D-2154-08	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1	0	0	1	146	710	0	177	0	9.999996e-01	0	100	0	177	2		0	0	0	0	0	2	1	1	145	694	0	174	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H2AA	221613	broad.mit.edu	37	6	25726479	25726479	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25726479C>T	ENST00000297012.3	-	1	311	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa			13					TTATTGAGTTCCTCATCATTG	0.542000																								0							SO:0001583	missense			ENST00000297012.3	1	1	hg19	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959682	0.34565	.	.	ENSG00000164508	ENST00000297012	T	0.51325	0.71	3.65	2.78	0.32641	Histone-fold (2);Histone H2A (1);	0.000000	0.50627	D	0.000116	T	0.67571	0.2907	H	0.95470	3.675	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	T	0.74907	-0.3504	10	0.87932	D	0	.	9.4106	0.38489	0.0:0.8916:0.0:0.1084	.	93	Q96QV6	H2A1A_HUMAN	K	93	ENSP00000297012:E93K	ENSP00000297012:E93K	E	-	1	0	HIST1H2AA	25834458	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	5.388000	0.66249	1.133000	0.42147	-0.142000	0.14014	GAA		TCGA-IB-7651-01A-11D-2154-08	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	1	0	1	180	707	0	188		0	0	0	0	188	2		0	0	0	0	0	2	1	1	177	692	0	187	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A4	10050	broad.mit.edu	37	6	25769379	25769379	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25769379G>A	ENST00000377905.4	+	3	377	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SLC17A4_ENST00000397076.2_Silent_p.Q32Q|SLC17A4_ENST00000439485.2_Silent_p.Q86Q	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4			39					CTGACTCCCAGGGCTACTGGA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000377905.4	1	1	hg19	CCDS4564.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1	1	0	1	59	268	0	63	0	3.739041e-01	0	7	0	63	2		0	0	0	0	0	2	1	1	56	264	0	63	2								-2.976913	1	1	121402	5	38	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A4	10050	broad.mit.edu	37	6	25771219	25771219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25771219C>T	ENST00000377905.4	+	6	804	c.685C>T	c.(685-687)Cct>Tct	p.P229S	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4			39					CATAGGATGGCCTTACGTCTT	0.443000																								0							SO:0001583	missense			ENST00000377905.4	1	1	hg19	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207591	0.79240	.	.	ENSG00000146039	ENST00000377905	T	0.58358	0.34	5.69	5.69	0.88448	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.399292	0.21607	N	0.071844	T	0.65801	0.2726	M	0.75085	2.285	0.80722	D	1	D	0.61080	0.989	D	0.73380	0.98	T	0.62006	-0.6945	10	0.37606	T	0.19	.	15.6767	0.77332	0.0:1.0:0.0:0.0	.	229	Q9Y2C5	S17A4_HUMAN	S	229	ENSP00000367137:P229S	ENSP00000367137:P229S	P	+	1	0	SLC17A4	25879198	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.603000	0.46266	2.860000	0.98153	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1	1	0	0	54	794	0	137	0	5.331492e-02	0	6	0	137	2		0	0	0	0	0	2	1	1	54	778	0	135	2								-9.404344	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.730000	0.560000	0.930000	0.730000	0.744569	0.730000	0	6.400000e-01	8.400000e-01
SLC17A1	6568	broad.mit.edu	37	6	25811866	25811866	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25811866C>A	ENST00000244527.4	-	9	1145	c.1030G>T	c.(1030-1032)Gga>Tga	p.G344*	SLC17A1_ENST00000476801.1_Splice_Site_p.G344*|SLC17A1_ENST00000468082.1_Splice_Site_p.G290*|SLC17A1_ENST00000427328.1_Splice_Site_p.G290*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1			36					TGTTGCTTACCTGCTGCTGTG	0.468000																								0							SO:0001630	splice_region_variant			ENST00000244527.4	0	1	hg19	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242864	0.58995	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.48	3.48	0.39840	.	0.000000	0.44097	D	0.000493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7785	0.46363	0.0:1.0:0.0:0.0	.	.	.	.	X	344;290;344;290	.	.	G	-	1	0	SLC17A1	25919845	0.996000	0.38824	0.975000	0.42487	0.106000	0.19336	4.214000	0.58527	2.248000	0.74166	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2	0	0	0	56	289	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	56	283	1	79	15								-2.939177	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A3	10786	broad.mit.edu	37	6	25851014	25851014	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25851014T>G	ENST00000360657.3	-	6	855	c.570A>C	c.(568-570)gaA>gaC	p.E190D	SLC17A3_ENST00000397060.4_Missense_Mutation_p.E268D|SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3			20					ATATGATGTATTCTTTTTCTG	0.408000																								0							SO:0001583	missense			ENST00000360657.3	1	1	hg19	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119339	0.37436	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59083	0.29;0.29;0.29	4.81	0.898	0.19264	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.48767	D	0.000164	T	0.33000	0.0848	L	0.48877	1.53	0.31091	N	0.710852	B;P;B;P	0.35700	0.41;0.516;0.193;0.516	B;B;B;B	0.43867	0.241;0.434;0.306;0.267	T	0.18524	-1.0334	10	0.31617	T	0.26	.	7.0945	0.25301	0.0:0.2741:0.0:0.7259	.	190;249;268;190	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	D	268;190;190	ENSP00000380250:E268D;ENSP00000353873:E190D;ENSP00000355307:E190D	ENSP00000353873:E190D	E	-	3	2	SLC17A3	25958993	0.724000	0.28038	0.971000	0.41717	0.599000	0.36880	-0.729000	0.04920	-0.020000	0.14032	0.477000	0.44152	GAA		TCGA-IB-7651-01A-11D-2154-08	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2	1	0	1	66	300	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	66	292	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A3	10786	broad.mit.edu	37	6	25862558	25862558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862558C>A	ENST00000360657.3	-	3	491	c.206G>T	c.(205-207)aGc>aTc	p.S69I	SLC17A3_ENST00000397060.4_Missense_Mutation_p.S69I|SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3			20					AGGGCTTGTGCTGTTGACCAT	0.468000																								0							SO:0001583	missense			ENST00000360657.3	1	1	hg19	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587124	0.28268	0.0	1.16E-4	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64260	0.37;-0.09;-0.09	3.81	-0.328	0.12690	.	0.911600	0.09094	N	0.849515	T	0.52533	0.1740	M	0.69523	2.12	0.20638	N	0.999876	P;D;P;P	0.53151	0.845;0.958;0.828;0.845	B;P;P;B	0.61201	0.298;0.885;0.781;0.298	T	0.42396	-0.9454	10	0.19590	T	0.45	.	4.2789	0.10822	0.0:0.4057:0.3677:0.2265	.	69;50;69;69	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	I	69	ENSP00000380250:S69I;ENSP00000353873:S69I;ENSP00000355307:S69I	ENSP00000353873:S69I	S	-	2	0	SLC17A3	25970537	0.239000	0.23836	0.874000	0.34290	0.911000	0.54048	-0.317000	0.08060	-0.091000	0.12440	0.557000	0.71058	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2	1	0	0	25	404	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	9.999998e-01	24	399	0	72	2								-6.225832	1	1	121412	4	40	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.670000	0.450000	0.940000	0.670000	0.689201	0.670000	0	5.500000e-01	8.100000e-01
SLC17A2	10246	broad.mit.edu	37	6	25915985	25915985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25915985G>A	ENST00000265425.3	-	8	1062	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	SLC17A2_ENST00000377850.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.R348*			O00624	NPT3_HUMAN	solute carrier family 17, member 2			31					AAGAGCTTTCGCACAGTGATC	0.473000																								0							SO:0001587	stop_gained			ENST00000265425.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	40	8.098953	0.98654	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	.	.	.	4.93	3.12	0.35913	.	0.000000	0.44902	D	0.000402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6349	0.45558	0.0:0.0:0.667:0.333	.	.	.	.	X	348	.	ENSP00000265425:R348X	R	-	1	2	SLC17A2	26023964	0.983000	0.35010	0.966000	0.40874	0.795000	0.44927	2.267000	0.43329	0.774000	0.33427	-0.975000	0.02590	CGA		TCGA-IB-7651-01A-11D-2154-08	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1	1	0	1	67	297	1	76		0	0	0	1	76	2		0	0	0	0	0	2	1	1	67	290	1	76	16								-20.000000	1	1	121412	1	31	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM38	10475	broad.mit.edu	37	6	25972122	25972122	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25972122A>C	ENST00000357085.3	+	5	1009	c.533A>C	c.(532-534)aAa>aCa	p.K178T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38			23					CAGAGACAAAAAATCCGGTCT	0.403000																								0							SO:0001583	missense			ENST00000357085.3	1	1	hg19	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	3.568	-0.088221	0.07097	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.04502	3.61;3.61;3.61	4.55	0.716	0.18191	.	0.495426	0.17267	N	0.180553	T	0.01092	0.0036	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.20577	0.03	T	0.46498	-0.9187	10	0.45353	T	0.12	.	5.0157	0.14335	0.5343:0.3685:0.0971:0.0	.	178	O00635	TRI38_HUMAN	T	178	ENSP00000443976:K178T;ENSP00000230099:K178T;ENSP00000349596:K178T	ENSP00000230099:K178T	K	+	2	0	TRIM38	26080101	0.010000	0.17322	0.005000	0.12908	0.002000	0.02628	0.306000	0.19279	0.123000	0.18342	-0.313000	0.08912	AAA		TCGA-IB-7651-01A-11D-2154-08	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2	1	0	1	50	207	0	47	1	1	28	84	0	47	2		0	0	0	0	0	2	1	1	49	199	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H1A	3024	broad.mit.edu	37	6	26017371	26017371	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26017371G>T	ENST00000244573.3	-	1	669	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a			13					CGTCACCCTAGCCTTGGCCGC	0.438000																								0							SO:0001583	missense			ENST00000244573.3	1	1	hg19	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	9.614	1.131968	0.21041	.	.	ENSG00000124610	ENST00000244573	T	0.15017	2.46	4.31	0.178	0.15058	.	0.421494	0.25194	N	0.032428	T	0.04407	0.0121	L	0.34521	1.04	0.29056	N	0.884229	B	0.32245	0.361	B	0.32289	0.143	T	0.29731	-1.0002	10	0.52906	T	0.07	-0.0034	9.339	0.38067	0.3167:0.0:0.6833:0.0	.	197	Q02539	H11_HUMAN	D	197	ENSP00000244573:A197D	ENSP00000244573:A197D	A	-	2	0	HIST1H1A	26125350	0.321000	0.24625	0.001000	0.08648	0.193000	0.23685	1.411000	0.34702	-0.110000	0.12022	-0.320000	0.08662	GCT		TCGA-IB-7651-01A-11D-2154-08	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	1	0	1	174	872	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1	173	856	0	155	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H3B	8358	broad.mit.edu	37	6	26031956	26031956	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26031956G>A	ENST00000244661.2	-	1	332	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b			25					CATGGATGGCGCAAAGGTTTG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000244661.2	1	1	hg19	CCDS4573.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	1	0	1	94	311	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	94	309	0	80	2								-3.978782	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H1C	3006	broad.mit.edu	37	6	26056411	26056411	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26056411A>G	ENST00000343677.2	-	1	288	c.246T>C	c.(244-246)ctT>ctC	p.L82L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c			34					TCTTGAGACCAAGTTTGATAC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000343677.2	1	1	hg19	CCDS4577.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	1	0	1	172	713	0	175	1	1	271	327	0	175	2		0	0	0	0	0	2	1	1	170	694	0	168	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H1T	3010	broad.mit.edu	37	6	26108003	26108003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108003C>T	ENST00000338379.4	-	1	361	c.319G>A	c.(319-321)Ggt>Agt	p.G107S		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t			9					TTAAAGGAACCGGAAGCACCA	0.463000																								0							SO:0001583	missense			ENST00000338379.4	1	1	hg19	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922252	0.73213	.	.	ENSG00000187475	ENST00000338379	T	0.57907	0.37	5.38	5.38	0.77491	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	H	0.98446	4.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88674	0.3197	10	0.87932	D	0	-22.0053	18.3099	0.90195	0.0:1.0:0.0:0.0	.	107	P22492	H1T_HUMAN	S	107	ENSP00000341214:G107S	ENSP00000341214:G107S	G	-	1	0	HIST1H1T	26215982	1.000000	0.71417	0.222000	0.23844	0.012000	0.07955	5.912000	0.69948	2.802000	0.96397	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	1	0	1	89	386	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	88	384	0	94	2								-2.820574	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H1T	3010	broad.mit.edu	37	6	26108109	26108109	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108109G>A	ENST00000338379.4	-	1	255	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t			9					AGCCAGCAGCGGCCAATGCCT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000338379.4	1	1	hg19	CCDS34349.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	1	0	1	103	378	0	98	0	4.671218e-02	0	2	0	98	2		0	0	0	0	0	2	1	1	102	371	0	97	2								-3.488299	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H1E	3008	broad.mit.edu	37	6	26157183	26157183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26157183G>A	ENST00000304218.3	+	1	625	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e			26					CAAGAGCCCAGCGAAGGCCAA	0.542000																								0							SO:0001583	missense			ENST00000304218.3	1	1	hg19	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.658789	0.67586	0.0	1.16E-4	ENSG00000168298	ENST00000304218	T	0.23147	1.92	5.48	5.48	0.80851	.	0.281102	0.33217	N	0.005152	T	0.25754	0.0627	M	0.69523	2.12	0.43230	D	0.995122	P	0.51057	0.941	B	0.43889	0.435	T	0.06041	-1.0849	10	0.51188	T	0.08	-4.8345	18.6997	0.91615	0.0:0.0:1.0:0.0	.	189	P10412	H14_HUMAN	T	189	ENSP00000307705:A189T	ENSP00000307705:A189T	A	+	1	0	HIST1H1E	26265162	1.000000	0.71417	0.916000	0.36221	0.999000	0.98932	4.418000	0.59828	2.717000	0.92951	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	1	0	1	28	152	0	30	0	2.612142e-02	0	2	0	30	2		0	0	0	0	0	2	1	1	28	139	0	29	2								-20.000000	1	1	121364	1	29	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999861	0.990000	1	9.900000e-01	1
HIST1H4D	8360	broad.mit.edu	37	6	26189278	26189278	+	Missense_Mutation	SNP	C	C	A	rs142303259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26189278C>A	ENST00000340756.2	-	1	26	c.27G>T	c.(25-27)aaG>aaT	p.K9N		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d			8		all_hematologic(11;0.196)			TACCTAGACCCTTTCCGCCCT	0.552000																								0							SO:0001583	missense			ENST00000340756.2	1	1	hg19	CCDS4589.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363931	0.24684	.	.	ENSG00000188987	ENST00000340756	.	.	.	5.32	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	.	.	.	0.34101	D	0.66189	.	.	.	.	.	.	T	0.56456	-0.7976	6	0.87932	D	0	.	10.6325	0.45545	0.0:0.8096:0.0:0.1904	.	.	.	.	N	9	.	ENSP00000343282:K9N	K	-	3	2	HIST1H4D	26297257	0.016000	0.18221	0.761000	0.31378	0.007000	0.05969	-0.857000	0.04286	0.127000	0.18452	-0.145000	0.13849	AAG		TCGA-IB-7651-01A-11D-2154-08	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	1	0	1	63	439	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	60	435	0	110	2								-2.841675	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999938	0.990000	1	9.900000e-01	1
HIST1H2BF	8343	broad.mit.edu	37	6	26200158	26200158	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26200158C>A	ENST00000359985.1	+	1	411	c.372C>A	c.(370-372)agC>agA	p.S124R	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf			17		all_hematologic(11;0.196)			AGTACACCAGCTCTAAGTAAT	0.527000																								0							SO:0001583	missense			ENST00000359985.1	1	1	hg19	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.40	3.113885	0.56398	.	.	ENSG00000197846	ENST00000359985	T	0.24538	1.85	3.89	2.08	0.27032	.	0.000000	0.64402	D	0.000004	T	0.18509	0.0444	.	.	.	0.30597	N	0.760949	.	.	.	.	.	.	T	0.03717	-1.1010	7	0.87932	D	0	.	9.6316	0.39782	0.0:0.8218:0.0:0.1782	.	.	.	.	R	124	ENSP00000353074:S124R	ENSP00000353074:S124R	S	+	3	2	HIST1H2BF	26308137	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	2.138000	0.42140	0.384000	0.24942	-0.827000	0.03088	AGC		TCGA-IB-7651-01A-11D-2154-08	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	1	0	1	53	279	0	80	1	7.078381e-02	2	1	0	80	2		0	0	0	0	0	2	1	1	52	276	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HIST1H2BG	8339	broad.mit.edu	37	6	26216523	26216523	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216523T>C	ENST00000244601.3	-	1	349	c.349A>G	c.(349-351)Aag>Gag	p.K117E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg			8		all_hematologic(11;0.196)			GTGACAGCCTTGGTACCTTCG	0.517000																								0							SO:0001583	missense			ENST00000244601.3	1	1	hg19	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.149696	0.37923	.	.	ENSG00000187990	ENST00000244601	T	0.46063	0.88	3.89	3.89	0.44902	.	0.000000	0.34531	U	0.003887	T	0.41143	0.1146	.	.	.	0.34553	D	0.71154	.	.	.	.	.	.	T	0.47209	-0.9135	7	0.59425	D	0.04	.	12.3158	0.54955	0.0:0.0:0.0:1.0	.	.	.	.	E	117	ENSP00000244601:K117E	ENSP00000244601:K117E	K	-	1	0	HIST1H2BG	26324502	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.711000	0.84669	1.762000	0.52044	0.459000	0.35465	AAG		TCGA-IB-7651-01A-11D-2154-08	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	1	0	1	127	559	0	164	0	0	0	1	0	164	2		0	0	0	0	0	2	1	1	123	550	0	162	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H2BG	8339	broad.mit.edu	37	6	26216590	26216590	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216590C>T	ENST00000244601.3	-	1	282	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg			8		all_hematologic(11;0.196)			CGGTCTGGATCTCCCTGGAGG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000244601.3	1	1	hg19	CCDS4594.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	1	0	0	128	571	0	139	0	0	0	1	0	139	2		0	0	0	0	0	2	1	1	123	563	0	139	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H2AE	3012	broad.mit.edu	37	6	26217493	26217493	+	Silent	SNP	T	T	G	rs143862810		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26217493T>G	ENST00000303910.2	+	1	329	c.291T>G	c.(289-291)ctT>ctG	p.L97L	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae			10		all_hematologic(11;0.196)			TAAATAAGCTTCTAGGTCGCG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000303910.2	1	1	hg19	CCDS4595.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	1	0	1	81	352	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	1	79	347	0	83	2								-20.000000	1	1	121412	1	35	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H1D	3007	broad.mit.edu	37	6	26234584	26234584	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234584G>A	ENST00000244534.5	-	1	632	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d			23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)			AGGGGCTTTGGCCTTAGCTGG	0.537000																								0							SO:0001583	missense			ENST00000244534.5	1	1	hg19	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.110943	0.37242	.	.	ENSG00000124575	ENST00000244534	T	0.14144	2.53	5.12	4.25	0.50352	.	0.281601	0.28241	N	0.016063	T	0.02649	0.0080	N	0.08118	0	0.42787	D	0.993885	B	0.06786	0.001	B	0.09377	0.004	T	0.21042	-1.0257	10	0.72032	D	0.01	-16.8507	8.2884	0.31943	0.0797:0.0:0.7667:0.1536	.	193	P16402	H13_HUMAN	V	193	ENSP00000244534:A193V	ENSP00000244534:A193V	A	-	2	0	HIST1H1D	26342563	1.000000	0.71417	0.877000	0.34402	0.267000	0.26476	3.916000	0.56416	1.300000	0.44818	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	1	0	1	128	495	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1	127	485	0	105	2								-20.000000	1	1	121412	2	36	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H1D	3007	broad.mit.edu	37	6	26234693	26234693	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234693T>C	ENST00000244534.5	-	1	523	c.469A>G	c.(469-471)Aag>Gag	p.K157E		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d			23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)			TTTACCTTCTTAGGAGTCTTT	0.552000																								0							SO:0001583	missense			ENST00000244534.5	1	1	hg19	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527109	0.44969	.	.	ENSG00000124575	ENST00000244534	T	0.26518	1.73	5.22	5.22	0.72569	.	0.162509	0.52532	D	0.000080	T	0.20700	0.0498	N	0.08118	0	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.33879	-0.9851	10	0.66056	D	0.02	-6.8494	14.5864	0.68328	0.0:0.0:0.0:1.0	.	157	P16402	H13_HUMAN	E	157	ENSP00000244534:K157E	ENSP00000244534:K157E	K	-	1	0	HIST1H1D	26342672	1.000000	0.71417	0.883000	0.34634	0.006000	0.05464	5.885000	0.69736	2.115000	0.64714	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	1	0	1	116	545	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	116	537	0	85	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H4G	8369	broad.mit.edu	37	6	26247128	26247128	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26247128A>T	ENST00000244537.4	-	1	131	c.78T>A	c.(76-78)aaT>aaA	p.N26K		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g			7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)			TGCCCTGAATATTATCGCTCA	0.552000																								0							SO:0001583	missense			ENST00000244537.4	1	1	hg19	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	8.463	0.855664	0.17106	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.2	0.309	0.15820	Histone-fold (2);	.	.	.	.	T	0.40862	0.1134	.	.	.	0.31287	N	0.689934	P	0.50443	0.935	P	0.53760	0.734	T	0.35051	-0.9804	7	0.87932	D	0	.	10.5532	0.45101	0.1981:0.0:0.8019:0.0	.	26	Q99525	H4G_HUMAN	K	26	.	ENSP00000244537:N26K	N	-	3	2	HIST1H4G	26355107	1.000000	0.71417	0.995000	0.50966	0.005000	0.04900	2.112000	0.41892	0.193000	0.20303	-1.877000	0.00547	AAT		TCGA-IB-7651-01A-11D-2154-08	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	1	0	1	50	205	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	50	199	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H2BH	8345	broad.mit.edu	37	6	26252006	26252006	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26252006A>G	ENST00000356350.2	+	1	128	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh			17					GTATACGTTTACAAGGTGCTG	0.562000																								0							SO:0001583	missense			ENST00000356350.2	1	1	hg19	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.396033	0.83011	.	.	ENSG00000197459	ENST00000356350	T	0.22945	1.93	4.74	4.74	0.60224	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.55609	0.1931	H	0.95712	3.71	0.41038	D	0.985201	D	0.89917	1.0	D	0.80764	0.994	T	0.71056	-0.4703	9	0.87932	D	0	.	14.1186	0.65172	1.0:0.0:0.0:0.0	.	43	Q93079	H2B1H_HUMAN	C	43	ENSP00000348706:Y43C	ENSP00000348706:Y43C	Y	+	2	0	HIST1H2BH	26359985	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.981000	0.93465	2.070000	0.61991	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	1	0	1	153	706	0	177	0	3.208739e-02	0	2	0	177	2		0	0	0	0	0	2	1	1	149	694	0	175	2								-20.000000	1	1	121412	1	35	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H3G	8355	broad.mit.edu	37	6	26271485	26271485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26271485C>T	ENST00000305910.3	-	1	127	c.128G>A	c.(127-129)cGt>cAt	p.R43H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g			12					GGTGCCGGGACGGTAGCGATG	0.637000																								0							SO:0001583	missense			ENST00000305910.3	1	1	hg19	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.442606	0.25987	.	.	ENSG00000256018	ENST00000305910	T	0.50813	0.73	4.56	3.7	0.42460	.	.	.	.	.	T	0.37376	0.1001	.	.	.	0.27360	N	0.955999	.	.	.	.	.	.	T	0.26430	-1.0103	6	0.66056	D	0.02	.	11.9332	0.52857	0.0:0.915:0.0:0.085	.	.	.	.	H	43	ENSP00000439660:R43H	ENSP00000439660:R43H	R	-	2	0	HIST1H3G	26379464	1.000000	0.71417	0.982000	0.44146	0.086000	0.17979	7.557000	0.82243	1.064000	0.40671	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	1	0	0	19	492	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	9.999901e-01	19	487	0	104	2								-17.805900	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.430000	0.260000	0.640000	0.420000	0.446913	0.430000	0	3.400000e-01	5.400000e-01
HIST1H2BI	8346	broad.mit.edu	37	6	26273462	26273462	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26273462C>T	ENST00000377733.2	+	1	319	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi			16					TTATAACAAGCGCTCGACCAT	0.602000																								0							SO:0001583	missense			ENST00000377733.2	1	1	hg19	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	16.66	3.184707	0.57909	.	.	ENSG00000168242	ENST00000377733	T	0.78003	-1.14	4.5	4.5	0.54988	.	0.000000	0.42821	U	0.000645	D	0.87513	0.6196	M	0.91717	3.235	0.41726	D	0.989538	.	.	.	.	.	.	D	0.89578	0.3818	8	0.51188	T	0.08	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	87	ENSP00000366962:R87C	ENSP00000366962:R87C	R	+	1	0	HIST1H2BI	26381441	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.125000	0.50469	2.058000	0.61347	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	1	0	1	146	562	0	173		0	0	0	0	173	2		0	0	0	0	0	2	1	1	145	558	0	169	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTN3A2	11118	broad.mit.edu	37	6	26370581	26370581	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370581G>T	ENST00000356386.2	+	5	653	c.465G>T	c.(463-465)aaG>aaT	p.K155N	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2			10					TCGAAGTGAAGGGTTATGAGG	0.512000																								0							SO:0001583	missense			ENST00000356386.2	1	1	hg19	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.198784	0.38806	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T	0.13901	2.55;3.28;4.04;4.04;3.89;4.04;4.04;4.45	2.84	-1.73	0.08081	Immunoglobulin-like fold (1);	.	.	.	.	T	0.19046	0.0457	M	0.87381	2.88	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.04078	-1.0979	9	0.72032	D	0.01	.	2.5861	0.04830	0.469:0.0:0.3088:0.2221	.	132;155	F8W6E0;P78410	.;BT3A2_HUMAN	N	113;113;155;155;155;132;155;155;113	ENSP00000435952:K113N;ENSP00000434102:K113N;ENSP00000432138:K155N;ENSP00000348751:K155N;ENSP00000380140:K132N;ENSP00000366937:K155N;ENSP00000380152:K155N;ENSP00000442687:K113N	ENSP00000348751:K155N	K	+	3	2	BTN3A2	26478560	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.233000	0.09041	-0.301000	0.08882	0.405000	0.27470	AAG		TCGA-IB-7651-01A-11D-2154-08	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2	1	0	1	36	286	0	79	1	9.999296e-01	4	113	0	79	2		0	0	0	0	0	2	1	1	35	278	0	76	2								-2.690411	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.920000	1.000000	1.000000	0.995878	0.990000	1	9.900000e-01	1
BTN3A2	11118	broad.mit.edu	37	6	26370661	26370661	+	Missense_Mutation	SNP	C	C	A	rs147417438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370661C>A	ENST00000356386.2	+	5	733	c.545C>A	c.(544-546)gCc>gAc	p.A182D	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2			10					TGGAGCAACGCCAAGGGAGAG	0.557000																								0							SO:0001583	missense			ENST00000356386.2	1	1	hg19	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	c	1.724	-0.495838	0.04291	2.27E-4	1.16E-4	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.73152	-0.72;3.28;3.28;3.28;3.28;3.28;3.28	2.31	-2.56	0.06268	Immunoglobulin-like fold (1);	.	.	.	.	T	0.39118	0.1066	M	0.71036	2.16	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29336	-1.0015	9	0.42905	T	0.14	.	0.2854	0.00250	0.2052:0.3016:0.2027:0.2904	.	159;182	F8W6E0;P78410	.;BT3A2_HUMAN	D	140;182;182;182;159;182;182;140	ENSP00000435952:A140D;ENSP00000432138:A182D;ENSP00000348751:A182D;ENSP00000380140:A159D;ENSP00000366937:A182D;ENSP00000380152:A182D;ENSP00000442687:A140D	ENSP00000348751:A182D	A	+	2	0	BTN3A2	26478640	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.692000	0.05127	-0.704000	0.05042	0.405000	0.27470	GCC		TCGA-IB-7651-01A-11D-2154-08	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2	1	0	1	74	430	0	117	1	9.999976e-01	4	105	0	117	2		0	0	0	0	0	2	1	1	76	420	0	117	2								-20.000000	1	0	121412	6	44	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTN3A1	11119	broad.mit.edu	37	6	26409847	26409847	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26409847T>C	ENST00000289361.6	+	5	1170	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1			28					GGGAGCCGGTTACTTCCTGTG	0.542000																								0							SO:0001583	missense			ENST00000289361.6	1	1	hg19	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	8.709	0.911664	0.17833	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.50813	3.81;1.11;3.78;0.73	1.49	1.49	0.22878	.	.	.	.	.	T	0.40862	0.1134	M	0.77616	2.38	0.09310	N	1	P;D;D;P	0.59767	0.956;0.986;0.986;0.906	P;P;P;B	0.54100	0.459;0.742;0.742;0.36	T	0.14531	-1.0469	9	0.51188	T	0.08	.	5.0923	0.14715	0.0:0.0:0.0:1.0	.	216;268;268;268	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	268;268;268;216	ENSP00000420010:Y268H;ENSP00000289361:Y268H;ENSP00000396684:Y268H;ENSP00000406667:Y216H	ENSP00000289361:Y268H	Y	+	1	0	BTN3A1	26517826	0.002000	0.14202	0.023000	0.16930	0.033000	0.12548	0.778000	0.26732	0.933000	0.37291	0.491000	0.48974	TAC		TCGA-IB-7651-01A-11D-2154-08	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3	1	0	1	99	482	0	124	1	1	14	110	0	124	2		0	0	0	0	0	2	1	1	99	469	0	122	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTN3A1	11119	broad.mit.edu	37	6	26413464	26413464	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26413464G>A	ENST00000289361.6	+	10	1454	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	BTN3A1_ENST00000414912.2_Silent_p.V310V|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1			28					AGAGGAGTGTGCAGCGTGCCA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000289361.6	1	1	hg19	CCDS4608.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3	0	0	1	117	576	0	137	1	1	32	136	0	137	2		0	0	0	0	0	2	1	1	114	559	0	136	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTN2A1	11120	broad.mit.edu	37	6	26459981	26459981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26459981G>T	ENST00000312541.5	+	3	603	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000429381.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1			27					CACAGCCCAGGAAAACGGCAC	0.547000																								0							SO:0001587	stop_gained			ENST00000312541.5	0	1	hg19	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046061	0.55110	.	.	ENSG00000112763	ENST00000312541;ENST00000493173;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.	.	.	3.01	2.13	0.27403	.	0.523957	0.17331	N	0.178112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.2759	0.31873	0.1251:0.0:0.8749:0.0	.	.	.	.	X	119;58;58;119;119;119	.	ENSP00000265424:E119X	E	+	1	0	BTN2A1	26567960	0.997000	0.39634	0.004000	0.12327	0.171000	0.22731	5.379000	0.66196	0.843000	0.35070	0.561000	0.74099	GAA		TCGA-IB-7651-01A-11D-2154-08	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	0	0	0	9	225	0	51	1	7.723253e-01	4	68	0	51	2		0	0	0	0	0	2	1	9.939066e-01	9	221	0	51	2								-10.792820	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.450000	0.220000	0.780000	0.440000	0.479517	0.450000	0	3.200000e-01	6.200000e-01
BTN1A1	696	broad.mit.edu	37	6	26505184	26505184	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26505184A>C	ENST00000244513.6	+	3	525	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1			26					TCAGTATGCAAGTTCAAGAGA	0.498000																								0							SO:0001583	missense			ENST00000244513.6	1	1	hg19	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100831	0.37048	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.76448	-1.02	5.63	1.89	0.25635	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.847946	0.10453	N	0.672858	T	0.37128	0.0992	N	0.10760	0.04	0.22034	N	0.999404	B	0.14012	0.009	B	0.17979	0.02	T	0.36720	-0.9736	10	0.66056	D	0.02	.	6.3797	0.21527	0.6791:0.0:0.3209:0.0	.	153	Q13410	BT1A1_HUMAN	H	153	ENSP00000244513:Q153H	ENSP00000244513:Q153H	Q	+	3	2	BTN1A1	26613163	0.312000	0.24545	0.650000	0.29550	0.602000	0.36980	0.457000	0.21875	0.381000	0.24851	0.533000	0.62120	CAA		TCGA-IB-7651-01A-11D-2154-08	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	1	0	1	39	173	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	38	164	0	50	2								-19.999120	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
BTN1A1	696	broad.mit.edu	37	6	26507040	26507040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26507040G>A	ENST00000244513.6	+	4	905	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1			26					AGAGAGAGGAGGAATGAATTC	0.458000																								0							SO:0001583	missense			ENST00000244513.6	1	1	hg19	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206364	0.01568	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.35605	1.3	5.4	-2.07	0.07276	.	0.466636	0.20153	N	0.098120	T	0.02342	0.0072	N	0.02275	-0.615	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	10	0.02654	T	1	.	5.2949	0.15747	0.4649:0.1578:0.3773:0.0	.	280	Q13410	BT1A1_HUMAN	K	280	ENSP00000244513:R280K	ENSP00000244513:R280K	R	+	2	0	BTN1A1	26615019	0.002000	0.14202	0.008000	0.14137	0.020000	0.10135	0.008000	0.13197	-0.187000	0.10516	-0.290000	0.09829	AGG		TCGA-IB-7651-01A-11D-2154-08	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	0	0	1	171	816	1	215		0	0	0	1	215	2		0	0	0	0	0	2	1	1	165	798	1	213	16								-3.229631	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYLK4	340156	broad.mit.edu	37	6	2685594	2685594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2685594C>T	ENST00000274643.7	-	6	823	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4			23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)			ATGAGGTTCGCGTGGTCCAGC	0.572000																								0							SO:0001583	missense			ENST00000274643.7	1	1	hg19	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724036	0.68959	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.39229	1.09;1.09	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170767	0.27451	N	0.019319	T	0.18551	0.0445	N	0.25426	0.745	0.32308	N	0.564091	P	0.40302	0.712	B	0.32465	0.146	T	0.11324	-1.0592	10	0.48119	T	0.1	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	161	Q86YV6	MYLK4_HUMAN	T	161	ENSP00000268446:A161T;ENSP00000274643:A161T	ENSP00000268446:A161T	A	-	1	0	MYLK4	2630593	1.000000	0.71417	0.953000	0.39169	0.715000	0.41141	4.968000	0.63728	2.649000	0.89929	0.603000	0.83216	GCG		TCGA-IB-7651-01A-11D-2154-08	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	1	0	1	150	735	0	161	0	2.913962e-02	0	2	0	161	2		0	0	0	0	0	2	1	1	149	722	0	160	2								-20.000000	1	1	121412	2	37	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H2BJ	8970	broad.mit.edu	37	6	27100394	27100394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27100394G>T	ENST00000607124.1	-	1	135	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj			10					ACCTGCTTCAGAACCTTGTAC	0.537000																								0							SO:0001583	missense			ENST00000607124.1	1	1	hg19	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989555	0.35131	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70516	-0.49;-0.49	4.17	2.38	0.29361	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.79112	0.4391	M	0.92219	3.285	0.42303	D	0.992184	P	0.49783	0.928	P	0.59761	0.863	T	0.80948	-0.1154	9	0.72032	D	0.01	.	8.9091	0.35541	0.1917:0.0:0.8083:0.0	.	46	P06899	H2B1J_HUMAN	M	46	ENSP00000445633:L46M;ENSP00000342886:L46M	ENSP00000342886:L46M	L	-	1	2	HIST1H2BJ	27208373	1.000000	0.71417	0.995000	0.50966	0.078000	0.17371	1.451000	0.35145	0.506000	0.28125	-0.914000	0.02751	CTG		TCGA-IB-7651-01A-11D-2154-08	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	1	0	1	191	974	0	311	1	3.879753e-01	3	5	0	311	2		0	0	0	0	0	2	1	1	186	964	0	310	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H2AH	85235	broad.mit.edu	37	6	27115260	27115260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27115260C>T	ENST00000377459.1	+	1	400	c.353C>T	c.(352-354)cCt>cTt	p.P118L	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah			12					GTGCTGCTGCCTAAGAAGACT	0.522000																								0							SO:0001583	missense			ENST00000377459.1	0	1	hg19	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366702	0.61513	.	.	ENSG00000184825	ENST00000377459	D	0.90900	-2.75	4.06	4.06	0.47325	Histone-fold (2);Histone H2A (2);	0.000000	0.40554	N	0.001071	D	0.91300	0.7257	M	0.76170	2.325	0.58432	D	0.999992	D	0.63880	0.993	P	0.52856	0.711	D	0.92532	0.6034	10	0.87932	D	0	.	14.5447	0.68020	0.0:1.0:0.0:0.0	.	118	Q96KK5	H2A1H_HUMAN	L	118	ENSP00000366679:P118L	ENSP00000366679:P118L	P	+	2	0	HIST1H2AH	27223239	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.193000	0.77780	2.201000	0.70794	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	0	0	0	11	459	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	9.981858e-01	11	450	0	115	2								-3.441028	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.270000	0.140000	0.460000	0.270000	0.291171	0.270000	0	2.000000e-01	3.700000e-01
PRSS16	10279	broad.mit.edu	37	6	27218821	27218821	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27218821T>C	ENST00000230582.3	+	6	607	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)			26					CCTCCCTTAGTTCCCCCATCT	0.592000													NSCLC(178;1118 2105 17078 23587 44429)											0							SO:0001630	splice_region_variant			ENST00000230582.3	1	0	hg19	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.343518|4.343518	0.82022|0.82022	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467|ENST00000475106	T|.	0.16897|.	2.31|.	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	0.163731|.	0.53938|.	D|.	0.000042|.	T|T	0.71005|0.71005	0.3289|0.3289	M|M	0.88979|0.88979	2.995|2.995	0.47862|0.47862	D|D	0.999538|0.999538	D;P|.	0.57257|.	0.979;0.587|.	D;B|.	0.71414|.	0.973;0.333|.	T|T	0.75714|0.75714	-0.3221|-0.3221	9|5	.|.	.|.	.|.	-12.8934|-12.8934	9.3482|9.3482	0.38122|0.38122	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	198;198|.	C9JI59;Q9NQE7|.	.;TSSP_HUMAN|.	L|A	198|89	ENSP00000230582:F198L|.	.|.	F|V	+|+	1|2	0|0	PRSS16|PRSS16	27326800|27326800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	1.194000|1.194000	0.32174|0.32174	1.987000|1.987000	0.57996|0.57996	0.460000|0.460000	0.39030|0.39030	TTC|GTT		TCGA-IB-7651-01A-11D-2154-08	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1	88	485	0	120	1	2.410095e-02	2	0	0	120	2		0	0	0	0	0	2	1	1	87	475	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS16	10279	broad.mit.edu	37	6	27219637	27219637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219637G>T	ENST00000230582.3	+	8	841	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)			26					CGGGCCCCTGGGCCGCGCTGA	0.701000													NSCLC(178;1118 2105 17078 23587 44429)											0							SO:0001583	missense			ENST00000230582.3	1	1	hg19	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414040	0.25465	.	.	ENSG00000112812	ENST00000230582	T	0.14640	2.49	3.72	0.425	0.16473	.	0.632610	0.15930	N	0.237713	T	0.04724	0.0128	L	0.39898	1.24	0.09310	N	1	P	0.43542	0.81	P	0.46362	0.514	T	0.25882	-1.0119	10	0.56958	D	0.05	0.5666	2.8425	0.05534	0.284:0.0:0.5066:0.2094	.	276	Q9NQE7	TSSP_HUMAN	C	276	ENSP00000230582:G276C	ENSP00000230582:G276C	G	+	1	0	PRSS16	27327616	0.061000	0.20836	0.006000	0.13384	0.040000	0.13550	0.408000	0.21065	-0.048000	0.13401	-0.244000	0.11960	GGC		TCGA-IB-7651-01A-11D-2154-08	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	0	51	221	0	43	1	7.679472e-01	8	6	0	43	2		0	0	0	0	0	2	1	1	51	215	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS16	10279	broad.mit.edu	37	6	27219749	27219749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219749G>A	ENST00000230582.3	+	8	953	c.938G>A	c.(937-939)gGa>gAa	p.G313E	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)			26					CAGCTCTGCGGACTTCTCCTC	0.687000													NSCLC(178;1118 2105 17078 23587 44429)											0							SO:0001583	missense			ENST00000230582.3	0	1	hg19	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661647	0.47572	.	.	ENSG00000112812	ENST00000230582	T	0.12774	2.65	3.18	3.18	0.36537	.	0.841051	0.10596	N	0.656227	T	0.03178	0.0093	L	0.29908	0.895	0.35506	D	0.800225	B	0.19445	0.036	B	0.18871	0.023	T	0.26258	-1.0108	10	0.07644	T	0.81	-0.0554	10.0977	0.42486	0.0:0.0:1.0:0.0	.	313	Q9NQE7	TSSP_HUMAN	E	313	ENSP00000230582:G313E	ENSP00000230582:G313E	G	+	2	0	PRSS16	27327728	0.995000	0.38212	0.776000	0.31678	0.930000	0.56654	2.556000	0.45862	2.067000	0.61834	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1	19	65	0	11	1	9.989484e-01	14	29	0	11	2		0	0	0	0	0	2	1	9.999952e-01	19	63	0	11	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
PRSS16	10279	broad.mit.edu	37	6	27222471	27222471	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222471G>T	ENST00000230582.3	+	10	1165		c.e10-1		PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)			26					TCCCTACACAGATGTCACCTG	0.502000													NSCLC(178;1118 2105 17078 23587 44429)											0							SO:0001630	splice_region_variant			ENST00000230582.3	1	1	hg19	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378242	0.61735	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000485993;ENST00000475106	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.307	0.60357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS16	27330450	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.274000	0.58921	2.607000	0.88179	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1	97	517	0	144	1	2.552674e-02	2	0	0	144	2		0	0	0	0	0	2	1	1	95	501	0	143	2								-3.320630	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS16	10279	broad.mit.edu	37	6	27222472	27222472	+	Splice_Site	SNP	A	A	G	rs145885657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222472A>G	ENST00000230582.3	+	10	1166	c.1151A>G	c.(1150-1152)tAt>tGt	p.Y384C	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site_p.Y127C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)			26					CCCTACACAGATGTCACCTGT	0.498000													NSCLC(178;1118 2105 17078 23587 44429)											0							SO:0001630	splice_region_variant			ENST00000230582.3	1	0	hg19	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	A	4.065	0.009916	0.07912	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.17854	2.25;2.25	4.68	4.68	0.58851	.	0.253691	0.41097	D	0.000956	T	0.19967	0.0480	M	0.78285	2.405	0.48452	D	0.999651	D;P	0.53745	0.962;0.654	P;B	0.51701	0.677;0.24	T	0.01512	-1.1336	10	0.40728	T	0.16	.	10.7158	0.46011	1.0:0.0:0.0:0.0	.	127;384	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	C	127;384	ENSP00000404349:Y127C;ENSP00000230582:Y384C	ENSP00000230582:Y384C	Y	+	2	0	PRSS16	27330451	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.570000	0.45981	2.106000	0.64143	0.455000	0.32223	TAT		TCGA-IB-7651-01A-11D-2154-08	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1	95	521	0	143	1	9.995235e-01	2	61	0	143	2		0	0	0	0	0	2	1	1	93	505	0	142	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRSS16	10279	broad.mit.edu	37	6	27222622	27222622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222622C>T	ENST00000230582.3	+	10	1316	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)			26					GGCCAGACCCCTGGGGCTAAC	0.557000													NSCLC(178;1118 2105 17078 23587 44429)											0							SO:0001583	missense			ENST00000230582.3	1	1	hg19	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004151	0.35320	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14022	2.54;2.54	4.5	3.63	0.41609	.	0.370207	0.29321	N	0.012485	T	0.09642	0.0237	L	0.56396	1.775	0.24316	N	0.995068	P;D	0.52996	0.906;0.957	P;P	0.56563	0.801;0.705	T	0.09100	-1.0690	10	0.11485	T	0.65	-18.6148	8.5839	0.33646	0.0:0.8941:0.0:0.1059	.	177;434	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	L	177;434	ENSP00000404349:P177L;ENSP00000230582:P434L	ENSP00000230582:P434L	P	+	2	0	PRSS16	27330601	0.831000	0.29352	0.043000	0.18650	0.185000	0.23345	1.361000	0.34136	1.260000	0.44134	0.557000	0.71058	CCT		TCGA-IB-7651-01A-11D-2154-08	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	1	0	1	114	520	0	137	0	9.999118e-01	1	62	0	137	2		0	0	0	0	0	2	1	1	112	508	0	134	2								-2.928317	1	1	121412	2	34	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF184	7738	broad.mit.edu	37	6	27419126	27419126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419126G>A	ENST00000211936.6	-	6	2496	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184			48					AGAGCAGAGCGATATCTGAAG	0.383000																								0							SO:0001583	missense			ENST00000211936.6	1	1	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840953	0.32513	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.53640	0.61;0.61	5.18	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393509	0.19849	N	0.104669	T	0.24198	0.0586	L	0.60904	1.88	0.09310	N	1	B	0.25719	0.132	B	0.14578	0.011	T	0.02698	-1.1122	10	0.35671	T	0.21	.	10.0024	0.41938	0.0:0.0:0.7844:0.2156	.	738	Q99676	ZN184_HUMAN	C	738;738;654	ENSP00000211936:R738C;ENSP00000366636:R738C	ENSP00000211936:R738C	R	-	1	0	ZNF184	27527105	0.000000	0.05858	0.398000	0.26321	0.956000	0.61745	0.775000	0.26689	2.696000	0.92011	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	0	0	1	119	588	1	181	1	9.934977e-01	15	25	1	181	2		0	0	0	0	0	2	1	1	114	570	1	181	14								-20.000000	1	1	121410	3	37	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF184	7738	broad.mit.edu	37	6	27419782	27419782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419782T>C	ENST00000211936.6	-	6	1840	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184			48					TTTCTGATGCTGATTAAGGTT	0.383000																								0							SO:0001583	missense			ENST00000211936.6	1	1	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	7.067	0.567513	0.13560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.07688	3.17;3.17	5.18	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000265	T	0.01254	0.0041	N	0.11560	0.145	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.48445	-0.9035	10	0.15952	T	0.53	.	8.1288	0.31014	0.2953:0.0:0.0:0.7047	.	519	Q99676	ZN184_HUMAN	R	519	ENSP00000211936:Q519R;ENSP00000366636:Q519R	ENSP00000211936:Q519R	Q	-	2	0	ZNF184	27527761	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.950000	0.01530	2.176000	0.68965	0.482000	0.46254	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1	53	274	0	52	1	9.753951e-01	10	23	0	52	2		0	0	0	0	0	2	1	1	53	269	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF184	7738	broad.mit.edu	37	6	27420156	27420156	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420156T>G	ENST00000211936.6	-	6	1466	c.1182A>C	c.(1180-1182)gaA>gaC	p.E394D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184			48					CCTTTCCACATTCATTACATT	0.378000																								0							SO:0001583	missense			ENST00000211936.6	1	1	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820190	0.50633	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.18338	2.22;2.22	5.26	0.0295	0.14163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000104	T	0.03783	0.0107	L	0.39326	1.205	0.25791	N	0.984612	B	0.19200	0.034	B	0.20767	0.031	T	0.36212	-0.9757	10	0.40728	T	0.16	.	4.1982	0.10453	0.1421:0.2472:0.0:0.6107	.	394	Q99676	ZN184_HUMAN	D	394	ENSP00000211936:E394D;ENSP00000366636:E394D	ENSP00000211936:E394D	E	-	3	2	ZNF184	27528135	0.000000	0.05858	0.999000	0.59377	0.983000	0.72400	-3.957000	0.00325	0.150000	0.19136	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1	60	226	0	53	1	9.275002e-01	7	12	0	53	2		0	0	0	0	0	2	1	1	59	216	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF184	7738	broad.mit.edu	37	6	27420622	27420622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420622C>T	ENST00000211936.6	-	6	1000	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184			48					TCTCTGATGGCGAATAAGAGC	0.353000																								0							SO:0001583	missense			ENST00000211936.6	1	1	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	7.985	0.751986	0.15778	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.26810	1.71;1.71	5.12	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135982	0.34580	N	0.003854	T	0.05410	0.0143	L	0.58101	1.795	0.09310	N	1	P	0.36660	0.564	B	0.22152	0.038	T	0.23440	-1.0188	10	0.14252	T	0.57	.	3.5921	0.07993	0.163:0.433:0.3152:0.0888	.	239	Q99676	ZN184_HUMAN	H	239	ENSP00000211936:R239H;ENSP00000366636:R239H	ENSP00000211936:R239H	R	-	2	0	ZNF184	27528601	0.000000	0.05858	0.999000	0.59377	0.021000	0.10359	-1.898000	0.01602	1.366000	0.46076	-0.315000	0.08773	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1	170	719	0	146	1	9.698988e-01	6	20	0	146	2		0	0	0	0	0	2	1	1	165	703	0	145	2								-20.000000	1	1	121412	2	35	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF184	7738	broad.mit.edu	37	6	27425127	27425127	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27425127T>C	ENST00000211936.6	-	4	421	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184			48					CTGGCCAGGGTCCAGCTGTTT	0.413000																								0							SO:0001583	missense			ENST00000211936.6	1	1	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044500	0.55110	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.02606	4.23;4.23	4.69	3.5	0.40072	Krueppel-associated box (4);	0.000000	0.49305	D	0.000141	T	0.01627	0.0052	M	0.62209	1.925	0.37121	D	0.900818	B	0.15141	0.012	B	0.20577	0.03	T	0.34279	-0.9835	10	0.37606	T	0.19	.	9.0704	0.36488	0.1703:0.0:0.0:0.8297	.	46	Q99676	ZN184_HUMAN	G	46	ENSP00000211936:D46G;ENSP00000366636:D46G	ENSP00000211936:D46G	D	-	2	0	ZNF184	27533106	0.981000	0.34729	0.984000	0.44739	0.993000	0.82548	2.128000	0.42045	1.079000	0.41038	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1	110	430	0	114	1	9.987185e-01	13	28	0	114	2		0	0	0	0	0	2	1	1	109	419	0	114	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WRNIP1	56897	broad.mit.edu	37	6	2770555	2770555	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2770555C>A	ENST00000380773.4	+	3	1425	c.1216C>A	c.(1216-1218)Ccc>Acc	p.P406T	WRNIP1_ENST00000380769.4_Missense_Mutation_p.P186T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T|WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1			14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			CTCTAGCCGTCCCACTGACCC	0.547000																								0							SO:0001583	missense			ENST00000380773.4	1	1	hg19	CCDS4475.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501245	0.44455	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.43688	0.94;1.0;1.01	5.79	4.93	0.64822	.	0.437998	0.24657	N	0.036668	T	0.12433	0.0302	N	0.25647	0.755	0.30469	N	0.773538	B;B	0.15473	0.013;0.006	B;B	0.11329	0.006;0.006	T	0.13818	-1.0495	10	0.14252	T	0.57	-17.2905	12.2648	0.54672	0.0:0.9222:0.0:0.0778	.	381;406	Q96S55-2;Q96S55	.;WRIP1_HUMAN	T	406;381;186;22	ENSP00000370150:P406T;ENSP00000370148:P381T;ENSP00000370146:P186T	ENSP00000370141:P22T	P	+	1	0	WRNIP1	2715554	0.733000	0.28132	0.934000	0.37439	0.998000	0.95712	2.859000	0.48364	1.447000	0.47661	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	1	0	1	25	284	0	68	1	9.999877e-01	35	172	0	68	2		0	0	0	0	0	2	1	9.999998e-01	25	277	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.930000	0.620000	1.000000	1.000000	0.901446	0.930000	1	7.600000e-01	1
HIST1H1B	3009	broad.mit.edu	37	6	27835000	27835000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27835000C>T	ENST00000331442.3	-	1	359	c.308G>A	c.(307-309)gGt>gAt	p.G103D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b			24					GCCAGAAGCACCAGTGCCCTT	0.607000																								0							SO:0001583	missense			ENST00000331442.3	1	1	hg19	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759127	0.89843	.	.	ENSG00000184357	ENST00000331442	T	0.74106	-0.81	5.3	5.3	0.74995	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94386	0.7609	10	0.87932	D	0	-16.8992	18.3308	0.90268	0.0:1.0:0.0:0.0	.	103	P16401	H15_HUMAN	D	103	ENSP00000330074:G103D	ENSP00000330074:G103D	G	-	2	0	HIST1H1B	27942979	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	4.681000	0.61663	2.648000	0.89879	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	1	0	1	186	953	0	199		0	0	0	0	199	2		0	0	0	0	0	2	1	1	185	940	0	198	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WRNIP1	56897	broad.mit.edu	37	6	2784570	2784570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2784570C>T	ENST00000380773.4	+	6	1864	c.1655C>T	c.(1654-1656)cCg>cTg	p.P552L	WRNIP1_ENST00000380769.4_Missense_Mutation_p.P332L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L|WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1			14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			CTGGCAGACCCGTCTGCGTTA	0.507000																								0							SO:0001583	missense			ENST00000380773.4	1	1	hg19	CCDS4475.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917728	0.92249	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.54071	0.6;0.59;0.67	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.66497	0.944;0.472	D	0.84723	0.0741	10	0.87932	D	0	-0.8257	18.5466	0.91048	0.0:1.0:0.0:0.0	.	527;552	Q96S55-2;Q96S55	.;WRIP1_HUMAN	L	552;527;332;168	ENSP00000370150:P552L;ENSP00000370148:P527L;ENSP00000370146:P332L	ENSP00000370141:P168L	P	+	2	0	WRNIP1	2729569	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	7.344000	0.79328	2.610000	0.88304	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	1	0	1	33	105	0	35	1	1	69	164	0	35	2		0	0	0	0	0	2	1	1	32	101	0	35	2								-3.818896	1	1	121412	1	22	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIST1H3J	8356	broad.mit.edu	37	6	27858327	27858327	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858327C>T	ENST00000359303.2	-	1	243	c.244G>A	c.(244-246)Gac>Aac	p.D82N	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j			8					AAACGAAGGTCGGTTTTGAAA	0.562000																								0							SO:0001583	missense			ENST00000359303.2	1	1	hg19	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802455	0.50315	.	.	ENSG00000197153	ENST00000359303	T	0.47869	0.83	3.96	3.96	0.45880	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.49389	D	0.999786	.	.	.	.	.	.	T	0.62473	-0.6847	6	0.87932	D	0	.	15.8159	0.78599	0.0:1.0:0.0:0.0	.	.	.	.	N	82	ENSP00000352252:D82N	ENSP00000352252:D82N	D	-	1	0	HIST1H3J	27966306	1.000000	0.71417	0.996000	0.52242	0.057000	0.15508	7.304000	0.78882	2.503000	0.84419	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	0	0	1	41	349	1	94		0	0	0	1	94	2		0	0	0	0	0	2	1	9.999133e-01	41	345	1	94	15								-3.318794	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.890000	1.000000	1.000000	0.992971	0.990000	1	9.900000e-01	1
HIST1H3J	8356	broad.mit.edu	37	6	27858533	27858533	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858533C>T	ENST00000359303.2	-	1	37	c.38G>A	c.(37-39)gGc>gAc	p.G13D	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j			8					TGCCTTGCCGCCGGTAGACTT	0.597000																								0							SO:0001583	missense			ENST00000359303.2	1	1	hg19	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141759	0.37825	.	.	ENSG00000197153	ENST00000359303	T	0.46063	0.88	4.06	4.06	0.47325	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.52501	D	0.999954	.	.	.	.	.	.	T	0.56080	-0.8038	6	0.66056	D	0.02	.	16.036	0.80628	0.0:1.0:0.0:0.0	.	.	.	.	D	13	ENSP00000352252:G13D	ENSP00000352252:G13D	G	-	2	0	HIST1H3J	27966512	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.290000	0.78711	2.560000	0.86352	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	1	0	1	37	311	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	36	303	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.880000	1.000000	1.000000	0.992652	0.990000	1	9.900000e-01	1
OR2B2	81697	broad.mit.edu	37	6	27879173	27879173	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879173G>T	ENST00000303324.2	-	1	1001	c.925C>A	c.(925-927)Ctt>Att	p.L309I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2			22					TGATTAAGAAGACTCTTTGCA	0.363000																								0							SO:0001583	missense			ENST00000303324.2	1	1	hg19	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231361	0.09969	.	.	ENSG00000168131	ENST00000303324	T	0.38240	1.15	3.18	1.2	0.21068	.	0.886778	0.09250	N	0.827978	T	0.05960	0.0155	N	0.12569	0.235	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40887	-0.9539	10	0.22706	T	0.39	.	4.9859	0.14189	0.325:0.0:0.675:0.0	.	309	Q9GZK3	OR2B2_HUMAN	I	309	ENSP00000304419:L309I	ENSP00000304419:L309I	L	-	1	0	OR2B2	27987152	0.017000	0.18338	0.012000	0.15200	0.134000	0.20937	-0.115000	0.10741	0.285000	0.22329	0.313000	0.20887	CTT		TCGA-IB-7651-01A-11D-2154-08	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1	1	0	1	61	282	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	61	276	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2B2	81697	broad.mit.edu	37	6	27879845	27879845	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879845T>C	ENST00000303324.2	-	1	329	c.253A>G	c.(253-255)Ata>Gta	p.I85V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2			22					GTGTTGCATATGTTTACCAGC	0.453000																								0							SO:0001583	missense			ENST00000303324.2	1	1	hg19	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	T	3.218	-0.160103	0.06502	.	.	ENSG00000168131	ENST00000303324	T	0.00392	7.58	4.52	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.173808	0.26485	U	0.024112	T	0.00109	0.0003	L	0.49699	1.58	0.09310	N	1	B	0.28378	0.209	B	0.26770	0.073	T	0.40961	-0.9535	10	0.87932	D	0	.	5.3596	0.16081	0.1691:0.0:0.3501:0.4808	.	85	Q9GZK3	OR2B2_HUMAN	V	85	ENSP00000304419:I85V	ENSP00000304419:I85V	I	-	1	0	OR2B2	27987824	0.000000	0.05858	0.262000	0.24481	0.015000	0.08874	-2.156000	0.01283	0.821000	0.34540	-0.374000	0.07098	ATA		TCGA-IB-7651-01A-11D-2154-08	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1	1	0	1	63	271	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	62	268	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2B6	26212	broad.mit.edu	37	6	27925530	27925530	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27925530C>T	ENST00000244623.1	+	1	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6			19					CTCTGTGACCCCTATGTGATA	0.488000																								0							SO:0001583	missense			ENST00000244623.1	1	1	hg19	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	6.560	0.471641	0.12461	.	.	ENSG00000124657	ENST00000244623	T	0.38077	1.16	3.55	-0.147	0.13428	GPCR, rhodopsin-like superfamily (1);	1.407500	0.05586	U	0.573708	T	0.16599	0.0399	L	0.49256	1.55	0.09310	N	1	B	0.24317	0.101	B	0.32022	0.139	T	0.46652	-0.9176	10	0.56958	D	0.05	.	6.294	0.21075	0.4238:0.429:0.1471:0.0	.	171	P58173	OR2B6_HUMAN	L	171	ENSP00000244623:P171L	ENSP00000244623:P171L	P	+	2	0	OR2B6	28033509	0.000000	0.05858	0.105000	0.21289	0.254000	0.26022	-2.067000	0.01383	0.153000	0.19213	0.467000	0.42956	CCC		TCGA-IB-7651-01A-11D-2154-08	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1	1	0	1	99	600	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1	92	582	0	131	2								-3.142717	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF165	7718	broad.mit.edu	37	6	28053579	28053579	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28053579C>A	ENST00000377325.1	+	2	877	c.321C>A	c.(319-321)gcC>gcA	p.A107A		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165			27					ATTTGCAGGCCTGGGTACATG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000377325.1	1	1	hg19	CCDS4643.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	1	0	1	55	223	0	70	1	9.771623e-01	12	15	0	70	2		0	0	0	0	0	2	1	1	52	219	0	70	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN16	80345	broad.mit.edu	37	6	28093345	28093345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28093345C>T	ENST00000340487.4	+	2	273	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16			10					ACTCTATAGACAACACTTCAG	0.527000																								0							SO:0001587	stop_gained			ENST00000340487.4	0	1	hg19	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550547	0.45383	.	.	ENSG00000196812	ENST00000340487	.	.	.	3.66	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	9.7442	0.40437	0.3728:0.6272:0.0:0.0	.	.	.	.	X	42	.	ENSP00000366527:Q42X	Q	+	1	0	ZSCAN16	28201324	0.006000	0.16342	0.212000	0.23672	0.281000	0.26958	1.399000	0.34566	0.828000	0.34709	0.557000	0.71058	CAA		TCGA-IB-7651-01A-11D-2154-08	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	1	0	1	215	1169	0	350	1	8.590067e-01	3	18	0	350	2		0	0	0	0	0	2	1	1	209	1149	0	347	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN4	387032	broad.mit.edu	37	6	28213078	28213078	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213078A>G	ENST00000377294.2	-	5	1697	c.1454T>C	c.(1453-1455)gTg>gCg	p.V485A	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4			18					TTTATAAGACACGGGAGCCTC	0.443000																								0							SO:0001583	missense			ENST00000377294.2	1	1	hg19	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	A	7.727	0.698511	0.15106	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.05649	3.51;3.41	5.06	-2.27	0.06846	.	.	.	.	.	T	0.01421	0.0046	L	0.34521	1.04	0.09310	N	1	B	0.27791	0.189	B	0.25140	0.058	T	0.47005	-0.9150	9	0.87932	D	0	.	3.3464	0.07137	0.3562:0.0:0.1784:0.4654	.	485	Q969J2	ZKSC4_HUMAN	A	485;330	ENSP00000366509:V485A;ENSP00000401978:V330A	ENSP00000366509:V485A	V	-	2	0	ZKSCAN4	28321057	0.992000	0.36948	0.001000	0.08648	0.168000	0.22595	-0.265000	0.08644	-0.124000	0.11724	-0.250000	0.11733	GTG		TCGA-IB-7651-01A-11D-2154-08	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	1	0	1	61	553	0	118	1	3.810107e-01	2	11	0	118	2		0	0	0	0	0	2	1	1	61	548	0	118	2								-18.624140	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.890000	1.000000	1.000000	0.992073	0.990000	1	9.900000e-01	1
ZKSCAN4	387032	broad.mit.edu	37	6	28213259	28213259	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213259T>C	ENST00000377294.2	-	5	1516	c.1273A>G	c.(1273-1275)Att>Gtt	p.I425V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4			18					CCAGTATGAATTTTGTGATGT	0.473000																								0							SO:0001583	missense			ENST00000377294.2	1	1	hg19	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763298	0.69763	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.00986	5.47;5.47	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.33137	0.985	0.25935	N	0.982941	D	0.63880	0.993	D	0.76071	0.987	T	0.56860	-0.7909	9	0.49607	T	0.09	.	14.9164	0.70801	0.0:0.0:0.0:1.0	.	425	Q969J2	ZKSC4_HUMAN	V	425;270;131;301	ENSP00000366509:I425V;ENSP00000401978:I270V	ENSP00000349249:I301V	I	-	1	0	ZKSCAN4	28321238	0.001000	0.12720	1.000000	0.80357	0.856000	0.48823	1.094000	0.30951	2.212000	0.71576	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	1	0	1	93	344	0	86	1	9.682359e-01	2	21	0	86	2		0	0	0	0	0	2	1	1	92	336	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN4	387032	broad.mit.edu	37	6	28213501	28213501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213501C>T	ENST00000377294.2	-	5	1274	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4			18					GGGTTTCTCACCAGTGTGGAT	0.458000																								0							SO:0001583	missense			ENST00000377294.2	1	1	hg19	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958964	0.74016	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.01599	4.74;4.74	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	M	0.73753	2.245	0.49915	D	0.999836	D	0.89917	1.0	D	0.91635	0.999	T	0.07347	-1.0777	9	0.87932	D	0	.	17.6454	0.88147	0.0:1.0:0.0:0.0	.	344	Q969J2	ZKSC4_HUMAN	D	344;189;50;220	ENSP00000366509:G344D;ENSP00000401978:G189D	ENSP00000349249:G220D	G	-	2	0	ZKSCAN4	28321480	0.969000	0.33509	0.438000	0.26821	0.499000	0.33736	4.030000	0.57260	2.522000	0.85027	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	1	0	1	79	319	0	77	1	9.784164e-01	2	25	0	77	2		0	0	0	0	0	2	1	1	76	313	0	77	2								-20.000000	1	1	121412	1	30	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN4	387032	broad.mit.edu	37	6	28219397	28219397	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28219397C>A	ENST00000377294.2	-	1	605	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4			18					CACCTCCTCCCCGCTCTCTGG	0.597000																								0							SO:0001583	missense			ENST00000377294.2	0	1	hg19	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477769	0.84640	.	.	ENSG00000187626	ENST00000377294;ENST00000356796	T	0.05025	3.51	4.45	4.45	0.53987	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.23451	0.0567	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.08330	-1.0727	9	0.62326	D	0.03	.	16.7365	0.85448	0.0:1.0:0.0:0.0	.	121	Q969J2	ZKSC4_HUMAN	V	121;69	ENSP00000366509:G121V	ENSP00000349249:G69V	G	-	2	0	ZKSCAN4	28327376	0.940000	0.31905	1.000000	0.80357	0.981000	0.71138	2.649000	0.46656	2.388000	0.81334	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	0	0	0	59	207	0	75	1	4.861766e-01	2	5	0	75	2		0	0	0	0	0	2	1	1	51	182	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKAPL	222698	broad.mit.edu	37	6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like			31					GAATTGGGAGCGCCTGAAGTG	0.537000																								0							SO:0001583	missense			ENST00000343684.3	1	1	hg19	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873503	0.33069	.	.	ENSG00000189134	ENST00000343684	T	0.11930	2.73	5.1	4.23	0.50019	.	0.110110	0.64402	D	0.000008	T	0.04861	0.0131	M	0.79475	2.455	0.09310	N	1	P	0.48998	0.918	B	0.33799	0.17	T	0.31052	-0.9957	10	0.15066	T	0.55	-12.5193	9.4232	0.38563	0.0:0.9047:0.0:0.0953	.	133	Q5M9Q1	NKAPL_HUMAN	V	133	ENSP00000345716:A133V	ENSP00000345716:A133V	A	+	2	0	NKAPL	28335526	0.971000	0.33674	0.007000	0.13788	0.809000	0.45718	2.535000	0.45685	1.530000	0.49136	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1	1	0	1	101	663	0	169	0	4.856147e-02	0	3	0	169	2		0	0	0	0	0	2	1	1	97	637	0	169	2								-20.000000	1	0	121412	2	36	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKAPL	222698	broad.mit.edu	37	6	28228254	28228254	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28228254C>A	ENST00000343684.3	+	1	1157	c.1105C>A	c.(1105-1107)Ctt>Att	p.L369I	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like			31					GAAGAGAGCTCTTGCATCCTT	0.443000																								0							SO:0001583	missense			ENST00000343684.3	1	1	hg19	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645815	0.87958	.	.	ENSG00000189134	ENST00000343684	T	0.23754	1.89	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33189	-0.9878	10	0.59425	D	0.04	-9.0374	15.3886	0.74723	0.0:1.0:0.0:0.0	.	369	Q5M9Q1	NKAPL_HUMAN	I	369	ENSP00000345716:L369I	ENSP00000345716:L369I	L	+	1	0	NKAPL	28336233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.478000	0.81082	2.563000	0.86464	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1	1	0	1	78	344	0	90	0	9.187913e-02	0	3	0	90	2		0	0	0	0	0	2	1	1	77	335	0	90	2								-3.432798	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269043G>A	ENST00000405948.2	+	7	1832	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1			41					GGATTTATGAGGCATCCTAGA	0.398000																								0							SO:0001583	missense			ENST00000405948.2	1	1	hg19	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	0.795	-0.757490	0.03019	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17370	2.28;2.28	4.66	2.85	0.33270	.	0.521782	0.16320	N	0.219617	T	0.02494	0.0076	L	0.33485	1.01	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.46498	-0.9187	10	0.02654	T	1	-8.2565	5.8593	0.18736	0.0984:0.0:0.7124:0.1891	.	471	Q96JS3	PGBD1_HUMAN	K	471	ENSP00000385213:R471K;ENSP00000259883:R471K	ENSP00000259883:R471K	R	+	2	0	PGBD1	28377022	0.006000	0.16342	0.013000	0.15412	0.981000	0.71138	0.070000	0.14573	0.673000	0.31224	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2	1	0	1	127	649	0	157	1	6.934368e-01	3	11	0	157	2		0	0	0	0	0	2	1	1	125	634	0	154	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGBD1	84547	broad.mit.edu	37	6	28269797	28269797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269797G>A	ENST00000405948.2	+	7	2586	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	PGBD1_ENST00000259883.3_Silent_p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1			41					AAATCCCTCAGATAAGTCAAC	0.413000																								0							SO:0001819	synonymous_variant			ENST00000405948.2	1	1	hg19	CCDS4648.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2	1	0	1	77	405	0	77	0	2.504586e-01	1	5	0	77	2		0	0	0	0	0	2	1	1	77	397	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPX6	257202	broad.mit.edu	37	6	28472207	28472207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28472207G>A	ENST00000474923.1	-	4	471	c.428C>T	c.(427-429)tCc>tTc	p.S143F	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Silent_p.V176V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)			19				Glutathione(DB00143)	GGATATCATGGACCTTCATGG	0.512000																								0							SO:0001583	missense			ENST00000474923.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.30	2.494134	0.44352	.	.	ENSG00000198704	ENST00000474923	T	0.13307	2.6	4.31	1.47	0.22746	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05903	-1.0857	6	0.72032	D	0.01	.	5.873	0.18814	0.1769:0.0:0.6685:0.1546	.	.	.	.	F	143	ENSP00000417364:S143F	ENSP00000417364:S143F	S	-	2	0	GPX6	28580186	0.998000	0.40836	0.996000	0.52242	0.981000	0.71138	1.669000	0.37492	0.300000	0.22699	0.591000	0.81541	TCC		TCGA-IB-7651-01A-11D-2154-08	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5	0	0	0	10	268	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	9.967382e-01	10	263	0	61	2								-11.259870	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.420000	0.210000	0.710000	0.410000	0.446334	0.420000	0	3.100000e-01	5.700000e-01
GPX5	2880	broad.mit.edu	37	6	28497272	28497272	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28497272G>T	ENST00000412168.2	+	2	221	c.132G>T	c.(130-132)gaG>gaT	p.E44D	GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX5_ENST00000442674.2_3'UTR|GPX6_ENST00000483058.1_5'Flank	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)			16				Glutathione(DB00143)	ATGACTATGAGGCCATCGCAC	0.433000																								0							SO:0001583	missense			ENST00000412168.2	1	1	hg19	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868061	0.02590	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03982	3.74;3.74	3.65	-5.39	0.02664	Thioredoxin-like fold (2);	1.372440	0.04755	N	0.425323	T	0.01558	0.0050	M	0.65975	2.015	0.18873	N	0.999986	B;B	0.18863	0.031;0.0	B;B	0.17098	0.017;0.001	T	0.44205	-0.9343	10	0.40728	T	0.16	-0.7799	1.8104	0.03089	0.1694:0.1208:0.2565:0.4533	.	44;44	A1A4Y0;O75715	.;GPX5_HUMAN	D	44	ENSP00000392398:E44D;ENSP00000419935:E44D	ENSP00000392398:E44D	E	+	3	2	GPX5	28605251	0.148000	0.22702	0.001000	0.08648	0.292000	0.27327	-0.894000	0.04123	-1.342000	0.02222	-0.182000	0.12963	GAG		TCGA-IB-7651-01A-11D-2154-08	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2	1	0	1	41	229	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	41	226	0	78	2								-3.232466	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
GPX5	2880	broad.mit.edu	37	6	28501868	28501868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28501868G>A	ENST00000412168.2	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)			16				Glutathione(DB00143)	CCTGTCATGCGCTGGTCCCAC	0.512000																								0							SO:0001583	missense			ENST00000412168.2	1	1	hg19	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152846	0.94645	.	.	ENSG00000224586	ENST00000412168	T	0.04917	3.53	4.52	4.52	0.55395	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	M	0.91249	3.19	0.80722	D	1	D	0.69078	0.997	P	0.56127	0.792	T	0.02560	-1.1141	10	0.66056	D	0.02	-11.5047	15.5724	0.76349	0.0:0.0:1.0:0.0	.	197	O75715	GPX5_HUMAN	H	197	ENSP00000392398:R197H	ENSP00000392398:R197H	R	+	2	0	GPX5	28609847	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.365000	0.73090	2.793000	0.96121	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2	1	0	1	84	422	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	83	417	0	77	2								-3.234327	1	1	121412	2	36	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAND3	0	broad.mit.edu	37	6	28540422	28540422	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28540422G>T	ENST00000452236.2	-	4	3861	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M		NM_052923.1	NP_443155.1						71					ttgccttgcagaaacactaag	0.378000																								0							SO:0001583	missense			ENST00000452236.2	1	1	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898401	0.33535	.	.	ENSG00000232040	ENST00000452236	T	0.40225	1.04	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.546150	0.12347	N	0.476966	T	0.42832	0.1220	M	0.62154	1.92	0.24564	N	0.993958	D	0.58970	0.984	D	0.70487	0.969	T	0.07966	-1.0745	10	0.45353	T	0.12	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	1082	Q6R2W3	SCND3_HUMAN	M	1082	ENSP00000395259:L1082M	ENSP00000395259:L1082M	L	-	1	2	SCAND3	28648401	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.085000	0.30840	1.507000	0.48752	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	1	0	0	21	449	0	71	0	6.569855e-03	0	3	0	71	2		0	0	0	0	0	2	1	9.999974e-01	21	444	0	71	2								-3.224437	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.520000	0.330000	0.750000	0.510000	0.533804	0.520000	0	4.100000e-01	6.400000e-01
SCAND3	0	broad.mit.edu	37	6	28541211	28541211	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28541211C>T	ENST00000452236.2	-	4	3072	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1						71					gcccgcaaagcactaatgttt	0.373000																								0							SO:0001583	missense			ENST00000452236.2	1	1	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213948	0.58452	.	.	ENSG00000232040	ENST00000452236	T	0.01685	4.69	2.27	2.27	0.28462	.	0.000000	0.56097	U	0.000035	T	0.02380	0.0073	L	0.52011	1.625	0.26505	N	0.974691	D	0.57571	0.98	D	0.72338	0.977	T	0.43893	-0.9363	10	0.49607	T	0.09	.	8.144	0.31100	0.0:1.0:0.0:0.0	.	819	Q6R2W3	SCND3_HUMAN	T	819	ENSP00000395259:A819T	ENSP00000395259:A819T	A	-	1	0	SCAND3	28649190	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.852000	0.39348	1.581000	0.49865	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	1	0	1	109	476	0	109	0	1.618299e-01	0	4	0	109	2		0	0	0	0	0	2	1	1	107	463	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAND3	0	broad.mit.edu	37	6	28542469	28542469	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542469C>T	ENST00000452236.2	-	3	2630	c.2013G>A	c.(2011-2013)atG>atA	p.M671I	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1						71					ATGGCTTTAGCATTTTGGAAG	0.418000																								0							SO:0001583	missense			ENST00000452236.2	1	1	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925525	0.34002	.	.	ENSG00000232040	ENST00000452236	T	0.02395	4.31	3.51	2.63	0.31362	.	.	.	.	.	T	0.01287	0.0042	L	0.54323	1.7	0.24768	N	0.992881	B	0.02656	0.0	B	0.04013	0.001	T	0.43327	-0.9398	9	0.72032	D	0.01	.	6.8742	0.24137	0.0:0.8686:0.0:0.1314	.	671	Q6R2W3	SCND3_HUMAN	I	671	ENSP00000395259:M671I	ENSP00000395259:M671I	M	-	3	0	SCAND3	28650448	0.996000	0.38824	0.876000	0.34364	0.989000	0.77384	1.206000	0.32321	0.817000	0.34445	0.563000	0.77884	ATG		TCGA-IB-7651-01A-11D-2154-08	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	1	0	1	157	800	0	170	0	0	0	1	0	170	2		0	0	0	0	0	2	1	1	156	783	0	166	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAND3	0	broad.mit.edu	37	6	28542676	28542676	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542676G>T	ENST00000452236.2	-	3	2423	c.1806C>A	c.(1804-1806)tcC>tcA	p.S602S	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1						71					AAACTACACAGGATAAAAATC	0.403000																								0							SO:0001819	synonymous_variant			ENST00000452236.2	1	1	hg19	CCDS34355.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	1	0	1	41	150	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	41	150	0	43	2								-3.768857	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINB9	5272	broad.mit.edu	37	6	2896327	2896327	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2896327G>A	ENST00000380698.4	-	3	355	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9			15	Ovarian(93;0.0412)	all_hematologic(90;0.108)			GAGCCTGTTGGCCGTTCTCAG	0.443000																								0							SO:0001583	missense			ENST00000380698.4	1	1	hg19	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204303	0.79127	.	.	ENSG00000170542	ENST00000380698	D	0.87029	-2.2	4.21	4.21	0.49690	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	M	0.81614	2.55	0.80722	D	1	D	0.63046	0.992	P	0.52454	0.699	D	0.90084	0.4172	10	0.54805	T	0.06	.	15.6929	0.77469	0.0:0.0:1.0:0.0	.	89	P50453	SPB9_HUMAN	V	89	ENSP00000370074:A89V	ENSP00000370074:A89V	A	-	2	0	SERPINB9	2841326	1.000000	0.71417	0.996000	0.52242	0.364000	0.29643	8.832000	0.92079	2.342000	0.79632	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1	1	0	1	66	300	0	64	1	9.999999e-01	28	84	0	64	2		0	0	0	0	0	2	1	1	65	296	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF311	282890	broad.mit.edu	37	6	28963774	28963774	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28963774G>A	ENST00000377179.3	-	7	1517	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311			28					CCTTCCCACAGTCCCTGCACT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000377179.3	0	1	hg19	CCDS34357.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	0	0	0	6	219	0	35	0	9.996902e-03	0	5	0	35	2		0	0	0	0	0	2	1	9.592494e-01	6	207	0	33	2								-7.368686	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.320000	0.130000	0.620000	0.300000	0.348748	0.320000	0	2.100000e-01	4.700000e-01
ZNF311	282890	broad.mit.edu	37	6	28967386	28967386	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28967386G>A	ENST00000377179.3	-	5	700	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311			28					AAATGTCACTGACTCCTGAAA	0.438000																								0							SO:0001583	missense			ENST00000377179.3	1	1	hg19	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033476	0.19590	.	.	ENSG00000197935	ENST00000377179	T	0.00737	5.76	3.48	-0.559	0.11792	Krueppel-associated box (1);	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27673	-1.0067	9	0.15952	T	0.53	0.0796	0.4756	0.00539	0.3388:0.1782:0.3009:0.1821	.	63	Q5JNZ3	ZN311_HUMAN	L	63	ENSP00000366384:S63L	ENSP00000366384:S63L	S	-	2	0	ZNF311	29075365	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	0.429000	0.21412	-0.041000	0.13558	0.585000	0.79938	TCA		TCGA-IB-7651-01A-11D-2154-08	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	1	0	0	48	169	0	33	0	2.194732e-01	0	4	0	33	2		0	0	0	0	0	2	1	1	48	164	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2J3	442186	broad.mit.edu	37	6	29079778	29079778	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079778C>A	ENST00000377169.1	+	1	111	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3			24					TCTTGATCTTCTACTTGATGA	0.403000																								0							SO:0001583	missense			ENST00000377169.1	1	1	hg19	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	4.259	0.047120	0.08243	.	.	ENSG00000204701	ENST00000377169	T	0.00625	6.14	2.78	2.78	0.32641	.	.	.	.	.	T	0.00210	0.0006	N	0.16903	0.455	0.26392	N	0.976556	B	0.17852	0.024	B	0.21151	0.033	T	0.43048	-0.9415	9	0.32370	T	0.25	.	5.3118	0.15835	0.0:0.6649:0.2122:0.1229	.	37	O76001	OR2J3_HUMAN	L	37	ENSP00000366374:F37L	ENSP00000366374:F37L	F	+	3	2	OR2J3	29187757	0.000000	0.05858	0.965000	0.40720	0.159000	0.22180	-0.819000	0.04462	1.549000	0.49425	0.436000	0.28706	TTC		TCGA-IB-7651-01A-11D-2154-08	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2	1	0	1	262	978	0	220		0	0	0	0	220	2		0	0	0	0	0	2	1	1	257	957	0	219	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2J2	26707	broad.mit.edu	37	6	29142140	29142140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29142140G>A	ENST00000377167.2	+	1	830	c.728G>A	c.(727-729)gGa>gAa	p.G243E		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2			25					AGGACATGTGGAGCCCATCTT	0.463000																								0							SO:0001583	missense			ENST00000377167.2	0	1	hg19	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406875	0.11754	.	.	ENSG00000204700	ENST00000377167	T	0.37752	1.18	2.0	0.884	0.19182	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48390	0.1497	M	0.91459	3.21	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.22277	-1.0221	9	0.87932	D	0	.	3.8844	0.09091	0.0:0.2146:0.3755:0.4099	.	243	O76002	OR2J2_HUMAN	E	243	ENSP00000366372:G243E	ENSP00000366372:G243E	G	+	2	0	OR2J2	29250119	0.000000	0.05858	0.790000	0.31976	0.631000	0.37964	-0.239000	0.08965	1.101000	0.41535	0.205000	0.17691	GGA		TCGA-IB-7651-01A-11D-2154-08	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2	0	0	0	15	674	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	9.998516e-01	16	660	0	133	2								-2.897057	1	1	120860	2	33	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.250000	0.140000	0.400000	0.250000	0.266156	0.250000	0	1.900000e-01	3.300000e-01
OR14J1	442191	broad.mit.edu	37	6	29275057	29275057	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29275057G>A	ENST00000377160.2	+	1	655	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1			17					AGATTGCACTGGCTGCATTCA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000377160.2	1	1	hg19	CCDS34362.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2	1	0	1	121	573	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	116	565	0	149	2								-3.339575	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10C1	442194	broad.mit.edu	37	6	29408013	29408013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408013C>T	ENST00000444197.2	+	1	931	c.221C>T	c.(220-222)tCt>tTt	p.S74F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)			27					GGCTATACGTCTGTCACGGTC	0.557000																								0							SO:0001583	missense			ENST00000444197.2	1	1	hg19	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713759	0.15306	.	.	ENSG00000206474	ENST00000444197	T	0.03181	4.02	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002426	T	0.03011	0.0089	M	0.83223	2.63	0.09310	N	1	B	0.22003	0.063	B	0.28305	0.088	T	0.17440	-1.0369	10	0.49607	T	0.09	.	9.1445	0.36923	0.0:0.8952:0.0:0.1048	.	74	Q96KK4	O10C1_HUMAN	F	74	ENSP00000419119:S74F	ENSP00000419119:S74F	S	+	2	0	OR10C1	29515992	0.017000	0.18338	0.026000	0.17262	0.008000	0.06430	2.401000	0.44513	1.946000	0.56461	0.430000	0.28490	TCT		TCGA-IB-7651-01A-11D-2154-08	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	0	0	1	114	513	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1	111	503	0	111	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10C1	442194	broad.mit.edu	37	6	29408232	29408232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408232C>T	ENST00000444197.2	+	1	1150	c.440C>T	c.(439-441)gCg>gTg	p.A147V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)			27					GCTGGGTCGGCGTGGGCCTGT	0.622000																								0							SO:0001583	missense			ENST00000444197.2	1	1	hg19	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434952	0.43224	.	.	ENSG00000206474	ENST00000444197	T	0.34859	1.34	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001526	T	0.29028	0.0721	N	0.16708	0.43	0.09310	N	1	D	0.67145	0.996	D	0.67725	0.953	T	0.18650	-1.0330	10	0.87932	D	0	.	14.9009	0.70678	0.0:1.0:0.0:0.0	.	147	Q96KK4	O10C1_HUMAN	V	147	ENSP00000419119:A147V	ENSP00000419119:A147V	A	+	2	0	OR10C1	29516211	0.000000	0.05858	0.027000	0.17364	0.033000	0.12548	-1.281000	0.02802	1.805000	0.52779	0.508000	0.49915	GCG		TCGA-IB-7651-01A-11D-2154-08	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	1	0	1	131	451	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	130	448	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10C1	442194	broad.mit.edu	37	6	29408493	29408493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408493G>A	ENST00000444197.2	+	1	1411	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)			27					GCGGGCCGCCGCAAGGCCTTC	0.592000																								0							SO:0001583	missense			ENST00000444197.2	1	1	hg19	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.683637	0.00745	.	.	ENSG00000206474	ENST00000444197	T	0.00034	8.87	3.49	-0.841	0.10752	GPCR, rhodopsin-like superfamily (1);	0.381454	0.19248	N	0.119008	T	0.00012	0.0000	N	0.11927	0.2	0.09310	N	0.999999	B	0.10296	0.003	B	0.16289	0.015	T	0.37174	-0.9717	10	0.10111	T	0.7	.	4.6493	0.12587	0.4259:0.0:0.429:0.1451	.	234	Q96KK4	O10C1_HUMAN	H	234	ENSP00000419119:R234H	ENSP00000419119:R234H	R	+	2	0	OR10C1	29516472	0.000000	0.05858	0.049000	0.19019	0.015000	0.08874	-1.504000	0.02275	-0.486000	0.06744	-0.332000	0.08345	CGC		TCGA-IB-7651-01A-11D-2154-08	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	0	0	0	70	1612	1	309		0	0	0	1	309	2		0	0	0	0	0	2	1	1	71	1565	1	308	19								-4.677888	1	1	121258	3	39	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.470000	0.370000	0.590000	0.480000	0.486872	0.470000	0	4.200000e-01	5.400000e-01
OR10C1	442194	broad.mit.edu	37	6	29408712	29408712	+	Missense_Mutation	SNP	C	C	T	rs142718527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408712C>T	ENST00000444197.2	+	1	1630	c.920C>T	c.(919-921)aCg>aTg	p.T307M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	p.T307M(1)		27					ATCCAGAAAACGGTGCCTATG	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000444197.2	1	1	hg19	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	0.366	-0.936656	0.02340	6.62E-4	0.0	ENSG00000206474	ENST00000444197	T	0.00051	8.81	3.44	2.16	0.27623	.	0.353536	0.20583	N	0.089488	T	0.00039	0.0001	N	0.21282	0.65	0.09310	N	0.999997	B	0.10296	0.003	B	0.04013	0.001	T	0.28427	-1.0044	10	0.39692	T	0.17	.	7.4689	0.27336	0.0:0.11:0.0:0.89	.	307	Q96KK4	O10C1_HUMAN	M	307	ENSP00000419119:T307M	ENSP00000419119:T307M	T	+	2	0	OR10C1	29516691	0.001000	0.12720	0.446000	0.26920	0.022000	0.10575	0.243000	0.18106	0.412000	0.25729	-0.312000	0.09012	ACG		TCGA-IB-7651-01A-11D-2154-08	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2	1	0	0	97	397	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1	95	384	0	113	2								-20.000000	1	1	118948	7	41	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAS1L	116511	broad.mit.edu	37	6	29454915	29454915	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29454915C>A	ENST00000377127.3	-	1	823	c.765G>T	c.(763-765)caG>caT	p.Q255H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor			28					CCTTTTGCTGCTGGGAGCAGC	0.522000													NSCLC(153;755 1987 3859 11251 32945)											0							SO:0001583	missense			ENST00000377127.3	1	1	hg19	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716025	0.15306	.	.	ENSG00000204687	ENST00000377127	T	0.37411	1.2	2.23	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	B	0.29188	0.236	B	0.36989	0.238	T	0.32877	-0.9890	9	0.23302	T	0.38	.	10.2658	0.43453	0.0:1.0:0.0:0.0	.	255	P35410	MAS1L_HUMAN	H	255	ENSP00000366331:Q255H	ENSP00000366331:Q255H	Q	-	3	2	MAS1L	29562894	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.708000	0.25719	1.291000	0.44653	0.498000	0.49722	CAG		TCGA-IB-7651-01A-11D-2154-08	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	1	0	1	52	193	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	51	189	0	29	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2H2	7932	broad.mit.edu	37	6	29556001	29556001	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556001G>A	ENST00000383640.2	+	1	319	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2			14					CAGCTTCCTGGACTGCTCTGT	0.542000																								0							SO:0001583	missense			ENST00000383640.2	1	1	hg19	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273938	0.40194	.	.	ENSG00000204657	ENST00000383640	T	0.03004	4.08	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000809	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48570	-0.9024	10	0.87932	D	0	.	15.9828	0.80125	0.0:0.0:1.0:0.0	.	94	O95918	OR2H2_HUMAN	N	94	ENSP00000373136:D94N	ENSP00000373136:D94N	D	+	1	0	OR2H2	29663980	0.049000	0.20398	0.940000	0.37924	0.964000	0.63967	2.301000	0.43628	2.292000	0.77174	0.585000	0.79938	GAC		TCGA-IB-7651-01A-11D-2154-08	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2	1	0	1	96	386	0	89	0	0	1	0	0	89	2		0	0	0	0	0	2	1	1	95	376	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2H2	7932	broad.mit.edu	37	6	29556596	29556596	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556596A>G	ENST00000383640.2	+	1	914	c.875A>G	c.(874-876)aAc>aGc	p.N292S	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2			14					ACCCTGAGGAACAAGGAGGTA	0.498000																								0							SO:0001583	missense			ENST00000383640.2	1	1	hg19	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679557	0.47886	.	.	ENSG00000204657	ENST00000383640	T	0.39997	1.05	4.31	3.12	0.35913	.	0.000000	0.45126	D	0.000396	T	0.44850	0.1313	M	0.64997	1.995	0.23831	N	0.996729	D	0.89917	1.0	D	0.83275	0.996	T	0.35919	-0.9769	10	0.87932	D	0	.	10.013	0.41997	0.8293:0.1707:0.0:0.0	.	292	O95918	OR2H2_HUMAN	S	292	ENSP00000373136:N292S	ENSP00000373136:N292S	N	+	2	0	OR2H2	29664575	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.753000	0.47524	0.658000	0.30925	0.482000	0.46254	AAC		TCGA-IB-7651-01A-11D-2154-08	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2	1	0	1	45	191	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1	45	184	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABBR1	2550	broad.mit.edu	37	6	29588918	29588918	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29588918A>T	ENST00000377034.4	-	11	1618	c.1283T>A	c.(1282-1284)gTc>gAc	p.V428D	GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D|GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1			47				Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATTCAGCATGACAATCTCAGT	0.537000																								0							SO:0001583	missense			ENST00000377034.4	1	1	hg19	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	a	25.9	4.685199	0.88639	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.91635	0.947;0.943;0.999;0.999	D	0.83484	0.0066	10	0.72032	D	0.01	-16.2389	13.8215	0.63322	1.0:0.0:0.0:0.0	.	428;366;428;311	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	D	311;428;366;311;428	ENSP00000348248:V311D;ENSP00000366176:V428D;ENSP00000366215:V366D;ENSP00000366211:V311D;ENSP00000366233:V428D	ENSP00000348248:V311D	V	-	2	0	GABBR1	29696897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.806000	0.91930	2.168000	0.68352	0.520000	0.50463	GTC		TCGA-IB-7651-01A-11D-2154-08	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3	0	0	0	13	299	0	54	0	1.758500e-01	0	17	0	54	2		0	0	0	0	0	2	1	9.994331e-01	13	287	0	54	2								-14.337520	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.490000	0.270000	0.770000	0.470000	0.507597	0.490000	0	3.700000e-01	6.300000e-01
MOG	4340	broad.mit.edu	37	6	29633971	29633971	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29633971C>T	ENST00000376917.3	+	3	708	c.479C>T	c.(478-480)gCg>gTg	p.A160V	MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000376894.4_Missense_Mutation_p.A160V|MOG_ENST00000396701.2_Missense_Mutation_p.A160V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000416766.2_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	p.A160V(1)		19					GTTCTCCTCGCGGTGCTGCCT	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000376917.3	1	1	hg19	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196546	0.58126	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.45276	3.48;1.06;3.44;0.91;0.9;3.54;3.51;3.56;3.52;3.51;3.52	5.71	4.83	0.62350	.	0.129375	0.35466	N	0.003197	T	0.38026	0.1025	L	0.53249	1.67	0.46167	D	0.9989	P;P;P;D;D;D;D;D;P;D;P;D	0.56968	0.708;0.708;0.942;0.978;0.978;0.967;0.972;0.978;0.944;0.978;0.566;0.969	B;B;P;P;P;P;P;P;B;P;B;P	0.53006	0.138;0.138;0.563;0.573;0.573;0.715;0.469;0.551;0.359;0.551;0.06;0.453	T	0.35201	-0.9798	10	0.87932	D	0	.	9.6279	0.39761	0.0:0.9076:0.0:0.0924	.	44;44;90;160;160;160;160;160;160;160;44;160	E9PG44;E9PGF0;B7Z2X8;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	V	160;44;160;44;44;160;160;160;160;160;160	ENSP00000366115:A160V;ENSP00000366085:A44V;ENSP00000366091:A160V;ENSP00000418090:A44V;ENSP00000420350:A44V;ENSP00000366088:A160V;ENSP00000366095:A160V;ENSP00000410866:A160V;ENSP00000379929:A160V;ENSP00000417405:A160V;ENSP00000379932:A160V	ENSP00000366085:A44V	A	+	2	0	MOG	29741950	0.534000	0.26362	0.629000	0.29254	0.241000	0.25554	2.143000	0.42187	2.686000	0.91538	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	1	0	1	180	787	0	183		0	0	0	0	183	2		0	0	0	0	0	2	1	1	179	773	0	181	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOG	4340	broad.mit.edu	37	6	29635428	29635428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29635428C>T	ENST00000376917.3	+	4	788	c.559C>T	c.(559-561)Cga>Tga	p.R187*	MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000376894.4_Nonsense_Mutation_p.R187*|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein			19					AGGAAAACTTCGAGCAGAGAT	0.507000																								0							SO:0001587	stop_gained			ENST00000376917.3	0	1	hg19	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920335	0.73098	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	.	.	.	5.09	2.36	0.29203	.	0.343745	0.21435	N	0.074597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4759	0.16695	0.0:0.6592:0.1633:0.1775	.	.	.	.	X	187;71;187;71;71;149;187;187;187;187;187;187	.	ENSP00000366085:R71X	R	+	1	2	MOG	29743407	0.022000	0.18835	0.326000	0.25389	0.956000	0.61745	0.731000	0.26058	0.412000	0.25729	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	1	0	0	35	376	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	33	371	0	73	2								-3.318794	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.980000	0.700000	1.000000	1.000000	0.935238	0.980000	1	8.300000e-01	1
HLA-F	3134	broad.mit.edu	37	6	29691495	29691495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29691495G>A	ENST00000376861.1	+	3	509	c.125G>A	c.(124-126)cGc>cAc	p.R42H	HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F			8					GGGGAGCCCCGCTACATCGCC	0.687000																								0							SO:0001583	missense			ENST00000376861.1	0	1	hg19	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	3.867	-0.028772	0.07589	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	T;T;T;T;T	0.00856	9.34;5.61;9.34;9.34;9.34	1.63	0.666	0.17901	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.288637	0.18382	U	0.142933	T	0.01905	0.0060	M	0.90198	3.095	0.21675	N	0.999592	P;D;D;D	0.76494	0.837;0.999;0.996;0.998	B;D;B;D	0.70716	0.228;0.916;0.198;0.97	T	0.36016	-0.9765	10	0.87932	D	0	.	4.0933	0.09980	0.2471:0.0:0.7529:0.0	.	42;42;42;42	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	H	42	ENSP00000366057:R42H;ENSP00000389590:R42H;ENSP00000334263:R42H;ENSP00000259951:R42H;ENSP00000397376:R42H	ENSP00000259951:R42H	R	+	2	0	HLA-F	29799474	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.327000	0.07955	0.015000	0.14971	0.436000	0.28706	CGC		TCGA-IB-7651-01A-11D-2154-08	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	1	0	0	6	164	0	25	1	9.999533e-01	15	734	0	25	2		0	0	0	0	0	2	1	9.651784e-01	6	163	0	25	2								-3.203625	1	1	119574	2	25	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.430000	0.180000	0.800000	0.400000	0.456266	0.430000	0	2.800000e-01	6.100000e-01
HLA-G	3135	broad.mit.edu	37	6	29796436	29796436	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29796436C>A	ENST00000360323.6	+	3	484	c.460C>A	c.(460-462)Ctg>Atg	p.L154M	HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000428701.1_Missense_Mutation_p.L154M|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G			21					GAACGAGGACCTGCGCTCCTG	0.622000																								0		GRCh37	CD984106	HLA-G	D	rs41557518	SO:0001583	missense			ENST00000360323.6	1	1	hg19	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.193006	0.38707	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323	T;T;T	0.01076	5.37;5.37;5.37	1.72	-0.768	0.11013	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.537287	0.12660	U	0.449709	T	0.03348	0.0097	H	0.96430	3.82	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.19745	-1.0296	10	0.87932	D	0	.	2.4347	0.04480	0.4383:0.3625:0.0:0.1993	.	159;154	Q5RJ85;P17693	.;HLAG_HUMAN	M	159;154;154	ENSP00000366024:L159M;ENSP00000412927:L154M;ENSP00000353472:L154M	ENSP00000353472:L154M	L	+	1	2	HLA-G	29904415	0.000000	0.05858	0.890000	0.34922	0.087000	0.18053	-0.549000	0.06041	0.071000	0.16664	0.298000	0.19748	CTG		TCGA-IB-7651-01A-11D-2154-08	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	1	0	0	25	513	0	111	1	4.069910e-01	9	20	0	111	2		0	0	0	0	0	2	1	9.999998e-01	24	509	0	110	2								-4.751193	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.530000	0.350000	0.760000	0.530000	0.552223	0.530000	0	4.400000e-01	6.500000e-01
HLA-A	3105	broad.mit.edu	37	6	29911111	29911111	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911111A>G	ENST00000396634.1	+	5	751	c.410A>G	c.(409-411)tAc>tGc	p.Y137C	HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C|HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C			P16189	1A31_HUMAN	major histocompatibility complex, class I, A			30					CTCCGCGGGTACCGGCAGGAC	0.667000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)														0							SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	ENST00000396634.1	1	1	hg19	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.604	1.129503	0.21041	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.01068	5.38;5.38;5.38;5.38	3.78	2.5	0.30297	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.538304	0.13547	U	0.379726	T	0.08537	0.0212	H	0.99887	4.895	0.23751	N	0.996947	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;1.0;1.0;1.0;1.0;1.0;1.0	T	0.37478	-0.9704	10	0.87932	D	0	.	7.6849	0.28534	0.811:0.0:0.0:0.189	.	16;137;137;137;137;137;137	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	C	137	ENSP00000379873:Y137C;ENSP00000366002:Y137C;ENSP00000366005:Y137C;ENSP00000365998:Y137C	ENSP00000348012:Y137C	Y	+	2	0	HLA-A	30019090	0.001000	0.12720	0.757000	0.31301	0.175000	0.22909	0.862000	0.27899	1.710000	0.51325	0.397000	0.26171	TAC		TCGA-IB-7651-01A-11D-2154-08	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	1	0	0	27	234	0	45	1	1	461	4174	0	45	2		0	0	0	0	0	2	1	9.999999e-01	26	224	0	42	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.810000	1.000000	1.000000	0.983890	0.990000	1	9.800000e-01	1
HLA-A	3105	broad.mit.edu	37	6	29911116	29911116	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911116C>A	ENST00000396634.1	+	5	756	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K			P16189	1A31_HUMAN	major histocompatibility complex, class I, A			30					CGGGTACCGGCAGGACGCCTA	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)														0							SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	ENST00000396634.1	1	1	hg19	CCDS34373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|.	9.615|9.615	1.132263|1.132263	0.21041|0.21041	.|.	.|.	ENSG00000206503|ENSG00000206503	ENST00000355767|ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.|T;T;T;T	.|0.00015	.|9.17;9.17;9.17;9.17	3.78|3.78	1.86|1.86	0.25419|0.25419	.|MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	.|0.000000	.|0.34200	.|U	.|0.004173	.|T	.|0.00241	.|0.0007	H|H	0.98238|0.98238	4.18|4.18	0.09310|0.09310	N|N	1|1	.|P;D;P;D;P;D;D	.|0.61697	.|0.641;0.99;0.953;0.989;0.953;0.982;0.989	.|B;D;D;D;D;D;D	.|0.80764	.|0.413;0.994;0.965;0.987;0.965;0.987;0.987	.|T	.|0.25222	.|-1.0138	.|10	.|0.87932	.|D	.|0	.|.	8.0676|8.0676	0.30669|0.30669	0.1792:0.6472:0.1736:0.0|0.1792:0.6472:0.1736:0.0	.|.	.|18;139;139;139;139;139;139	.|B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.|.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	.|K	-1|139	.|ENSP00000379873:Q139K;ENSP00000366002:Q139K;ENSP00000366005:Q139K;ENSP00000365998:Q139K	.|ENSP00000365998:Q139K	.|Q	+|+	.|1	.|0	HLA-A|HLA-A	30019095|30019095	0.054000|0.054000	0.20591|0.20591	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.909000|1.909000	0.39917|0.39917	0.327000|0.327000	0.23409|0.23409	0.485000|0.485000	0.47835|0.47835	.|CAG		TCGA-IB-7651-01A-11D-2154-08	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	0	0	0	45	223	0	48	1	1	647	3540	0	48	2		0	0	0	0	0	2	1	1	43	214	0	44	2								-2.925734	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PPP1R11	6992	broad.mit.edu	37	6	30036959	30036959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30036959G>A	ENST00000376772.3	+	3	580	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PPP1R11_ENST00000376773.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376765.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11			6					GAGGGCTGTGGTCATACACAC	0.602000													Pancreas(185;1767 3918 43793)											0							SO:0001583	missense			ENST00000376772.3	0	1	hg19	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321611	0.60634	.	.	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.4	4.53	0.55603	.	0.152389	0.64402	D	0.000016	T	0.27524	0.0676	L	0.29908	0.895	0.53688	D	0.999974	P	0.37061	0.58	B	0.37601	0.254	T	0.26155	-1.0111	9	0.87932	D	0	-0.286	11.592	0.50951	0.0:0.0:0.8219:0.1781	.	86	O60927	PP1RB_HUMAN	D	34;86;34;34;34;34	.	ENSP00000365949:G34D	G	+	2	0	PPP1R11	30144938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.799000	0.85936	1.257000	0.44085	0.549000	0.68633	GGT		TCGA-IB-7651-01A-11D-2154-08	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	0	0	0	9	509	0	70	1	9.622329e-01	10	312	0	70	2		0	0	0	0	0	2	1	9.936503e-01	8	498	0	69	2								-7.704140	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.200000	0.100000	0.360000	0.200000	0.220480	0.200000	0	1.400000e-01	2.900000e-01
RNF39	80352	broad.mit.edu	37	6	30038975	30038975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30038975C>T	ENST00000244360.6	-	4	1273	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	RNF39_ENST00000376751.3_Silent_p.A326A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39								GGGGGCCAGGCGCCTGGAAGG	0.687000													NSCLC(8;188 360 1520 20207 31481)											0							SO:0001819	synonymous_variant			ENST00000244360.6	1	1	hg19	CCDS4673.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	1	0	1	22	67	0	13	1	2.685180e-01	2	2	0	13	2		0	0	0	0	0	2	1	9.999995e-01	21	66	0	13	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
RNF39	80352	broad.mit.edu	37	6	30039014	30039014	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30039014G>A	ENST00000244360.6	-	4	1234	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39								AGCGGCCGTCGTAGAAGGCCA	0.721000													NSCLC(8;188 360 1520 20207 31481)											0							SO:0001819	synonymous_variant			ENST00000244360.6	0	1	hg19	CCDS4673.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	1	0	0	13	95	0	12	1	1.262102e-01	3	2	0	12	2		0	0	0	0	0	2	1	9.995728e-01	13	93	0	12	2								-19.964730	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.780000	1.000000	1.000000	0.983533	0.990000	1	9.900000e-01	1
RNF39	80352	broad.mit.edu	37	6	30041026	30041026	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30041026C>A	ENST00000244360.6	-	3	688		c.e3-1		RNF39_ENST00000376751.3_Splice_Site	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39								GACTTCAAATCTACACAGATG	0.458000													NSCLC(8;188 360 1520 20207 31481)											0							SO:0001630	splice_region_variant			ENST00000244360.6	1	1	hg19	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	8.023	0.760024	0.15846	.	.	ENSG00000204618	ENST00000376751;ENST00000244360	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8043	0.52145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF39	30149005	1.000000	0.71417	0.995000	0.50966	0.116000	0.19942	3.515000	0.53429	2.242000	0.73789	0.466000	0.42574	.		TCGA-IB-7651-01A-11D-2154-08	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	1	0	1	92	381	0	63	1	4.831098e-01	2	6	0	63	2		0	0	0	0	0	2	1	1	88	375	0	63	2								-3.443736	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NQO2	4835	broad.mit.edu	37	6	3010414	3010414	+	Missense_Mutation	SNP	G	G	T	rs55771117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3010414G>T	ENST00000338130.2	+	6	875	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2			7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)		Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	CACAGACAAAGATATCACTGG	0.413000																								0							SO:0001583	missense			ENST00000338130.2	1	1	hg19	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851555	0.51270	.	.	ENSG00000124588	ENST00000426637;ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.63	5.63	0.86233	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	H	0.95079	3.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61103	-0.7130	10	0.87932	D	0	-29.6135	16.8378	0.85961	0.0:0.0:1.0:0.0	rs55771117	55;102	P16083;Q59EN2	NQO2_HUMAN;.	Y	55;55;102;55;55;55;55;55;55	ENSP00000406951:D55Y;ENSP00000369839:D55Y;ENSP00000380829:D55Y;ENSP00000337773:D55Y;ENSP00000369806:D55Y;ENSP00000369822:D55Y;ENSP00000369821:D55Y;ENSP00000369795:D55Y	ENSP00000337773:D55Y	D	+	1	0	NQO2	2955413	1.000000	0.71417	0.414000	0.26521	0.078000	0.17371	8.075000	0.89502	2.650000	0.89964	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1	1	0	1	30	127	0	35	1	1	26	160	0	35	2		0	0	0	0	0	2	1	1	30	124	0	35	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
TRIM40	135644	broad.mit.edu	37	6	30114887	30114887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30114887G>A	ENST00000396581.1	+	4	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40			1					CAGCAGAAGCGGCCAGAATCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000396581.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2	1	0	1	72	264	0	62	0	4.714528e-02	1	1	0	62	2		0	0	0	0	0	2	1	1	72	261	0	62	2								-3.759820	1	1	121412	2	31	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM26	7726	broad.mit.edu	37	6	30166750	30166750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30166750C>T	ENST00000454678.2	-	4	567	c.131G>A	c.(130-132)cGc>cAc	p.R44H	TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H|TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26			3					TGAGATGGGGCGGACGTCTGT	0.602000																								0							SO:0001583	missense			ENST00000454678.2	1	1	hg19	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116427	0.37339	0.0	1.85E-4	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11	5.59	5.59	0.84812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.265447	0.27302	N	0.019995	T	0.04634	0.0126	L	0.58354	1.805	0.38578	D	0.950108	B	0.32245	0.361	B	0.22753	0.041	T	0.32587	-0.9901	10	0.22109	T	0.4	.	17.0723	0.86578	0.0:1.0:0.0:0.0	.	44	Q12899	TRI26_HUMAN	H	44	ENSP00000391879:R44H;ENSP00000410446:R44H;ENSP00000395491:R44H;ENSP00000413673:R44H;ENSP00000387530:R44H;ENSP00000400920:R44H	ENSP00000413673:R44H	R	-	2	0	TRIM26	30274729	0.002000	0.14202	0.911000	0.35937	0.044000	0.14063	-0.183000	0.09712	2.631000	0.89168	0.643000	0.83706	CGC		TCGA-IB-7651-01A-11D-2154-08	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	1	0	1	38	207	0	45	1	9.999890e-01	19	79	0	45	2		0	0	0	0	0	2	1	1	38	203	0	45	2								-19.437460	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
NQO2	4835	broad.mit.edu	37	6	3017130	3017130	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3017130C>T	ENST00000338130.2	+	9	1142	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	NQO2_ENST00000380441.1_Missense_Mutation_p.L106F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380455.4_Missense_Mutation_p.L144F			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2			7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)		Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TAAACTAGCGCTCCTTTCCGT	0.547000																								0							SO:0001583	missense			ENST00000338130.2	1	1	hg19	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009775	0.35415	.	.	ENSG00000124588	ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T	0.12361	2.69;2.96;2.69;2.96;2.69	5.4	4.52	0.55395	Flavodoxin-like fold (1);	0.108382	0.64402	D	0.000013	T	0.16896	0.0406	M	0.69463	2.115	0.39564	D	0.969173	D	0.56287	0.975	P	0.61132	0.884	T	0.02075	-1.1218	10	0.59425	D	0.04	-27.4601	6.6329	0.22867	0.337:0.5798:0.0:0.0831	.	144	P16083	NQO2_HUMAN	F	144;106;144;106;144	ENSP00000337773:L144F;ENSP00000369806:L106F;ENSP00000369822:L144F;ENSP00000369821:L106F;ENSP00000369795:L144F	ENSP00000337773:L144F	L	+	1	0	NQO2	2962129	0.541000	0.26417	0.022000	0.16811	0.025000	0.11179	0.754000	0.26390	1.246000	0.43901	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1	1	0	1	25	159	0	36	1	9.999990e-01	64	88	0	36	2		0	0	0	0	0	2	1	9.999999e-01	24	155	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.998852	0.990000	1	9.900000e-01	1
TRIM39	56658	broad.mit.edu	37	6	30297258	30297258	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30297258G>A	ENST00000396547.1	+	2	324	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H|HCG18_ENST00000413358.2_RNA|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.R55H|TRIM39-RPP21_ENST00000513556.1_5'Flank			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39			3					TGCATCACCCGCTGGTGGGAG	0.547000																								0							SO:0001583	missense			ENST00000396547.1	1	1	hg19	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782143	0.70222	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000428404;ENST00000376659;ENST00000396547	D;D;D;D;D;T;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;2.18;-1.91;-1.91;-1.91;-1.91	5.15	2.36	0.29203	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000043	T	0.80560	0.4646	L	0.52126	1.63	0.26498	N	0.974821	D;B	0.76494	0.999;0.201	D;B	0.63192	0.912;0.064	T	0.71314	-0.4630	10	0.41790	T	0.15	.	7.3567	0.26723	0.3472:0.0:0.6528:0.0	.	55;55	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	H	55	ENSP00000405928:R55H;ENSP00000394768:R55H;ENSP00000379800:R55H;ENSP00000365844:R55H;ENSP00000439400:R55H;ENSP00000406019:R55H;ENSP00000379797:R55H;ENSP00000405498:R55H;ENSP00000365847:R55H;ENSP00000379796:R55H	ENSP00000365844:R55H	R	+	2	0	TRIM39	30405237	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.462000	0.21956	0.754000	0.32968	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	1	0	1	131	559	0	145	1	9.954091e-01	7	30	0	145	2		0	0	0	0	0	2	1	1	125	553	0	144	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNL1	2794	broad.mit.edu	37	6	30514929	30514929	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30514929G>T	ENST00000376621.3	-	10	2371	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1			25					GTTCCGCTGAGGGGTCCTCAG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000376621.3	1	1	hg19	CCDS4680.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2	1	0	1	111	523	0	117	1	1	78	197	0	117	2		0	0	0	0	0	2	1	1	107	514	0	116	2								-2.868677	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNL1	2794	broad.mit.edu	37	6	30520942	30520942	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30520942G>A	ENST00000376621.3	-	7	1793	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1			25					CCCCGCCTCCGACTCTTCTTC	0.602000																								0							SO:0001583	missense			ENST00000376621.3	1	1	hg19	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476934	0.84640	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.51325	0.71	5.11	5.11	0.69529	.	0.168978	0.48286	D	0.000182	T	0.57784	0.2077	M	0.71206	2.165	0.45227	D	0.998237	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66979	0.948;0.893;0.853	T	0.61501	-0.7050	10	0.62326	D	0.03	-26.8611	12.7425	0.57261	0.0:0.0:0.8354:0.1645	.	273;137;275	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	W	275;97;137	ENSP00000365806:R275W	ENSP00000365806:R275W	R	-	1	2	GNL1	30628921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.251000	0.58778	2.552000	0.86080	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2	0	0	0	27	662	0	141	1	9.997229e-01	15	293	0	141	2		0	0	0	0	0	2	1	9.999999e-01	27	639	0	136	2								-3.800306	1	1	121412	11	42	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.450000	0.300000	0.630000	0.450000	0.465774	0.450000	0	3.700000e-01	5.500000e-01
PRR3	80742	broad.mit.edu	37	6	30530251	30530251	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30530251C>T	ENST00000376560.3	+	4	1005	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PRR3_ENST00000376557.3_Silent_p.G161G|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3			2					ACCATCCAGGCGTCAATGGAC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000376560.3	1	1	hg19	CCDS43440.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076033.2	1	0	1	152	634	0	143	1	9.960594e-01	8	29	0	143	2		0	0	0	0	0	2	1	1	150	627	0	141	2								-20.000000	1	1	121050	1	32	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCF1	23	broad.mit.edu	37	6	30546253	30546253	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30546253A>T	ENST00000326195.8	+	6	500	c.388A>T	c.(388-390)Aat>Tat	p.N130Y	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1			21					CTAGGGTGGTAATGTTTTTGC	0.478000																								0							SO:0001583	missense			ENST00000326195.8	1	1	hg19	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298034	0.81025	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.68765	1.53;0.54;0.62;-0.35	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.77400	-0.2602	10	0.87932	D	0	-28.44	11.675	0.51424	1.0:0.0:0.0:0.0	.	130;130;130	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	Y	130;130;131;131;33	ENSP00000313603:N130Y;ENSP00000365728:N130Y;ENSP00000405512:N131Y;ENSP00000440893:N33Y	ENSP00000313603:N130Y	N	+	1	0	ABCF1	30654232	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	7.007000	0.76335	2.084000	0.62774	0.460000	0.39030	AAT		TCGA-IB-7651-01A-11D-2154-08	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3	1	0	1	42	156	0	62	1	1	66	164	0	62	2		0	0	0	0	0	2	1	1	42	151	0	61	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCF1	23	broad.mit.edu	37	6	30553100	30553100	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30553100C>T	ENST00000326195.8	+	15	1567	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.N447N	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1			21					TGGACCTCAACGCTGTCATCT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000326195.8	1	1	hg19	CCDS34380.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3	1	0	1	78	306	0	111	1	1	43	141	0	111	2		0	0	0	0	0	2	1	1	76	296	0	111	2								-20.000000	1	1	119722	2	35	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX16	8449	broad.mit.edu	37	6	30628018	30628018	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30628018C>T	ENST00000376442.3	-	10	1741	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	DHX16_ENST00000376437.5_Splice_Site_p.V35M|DHX16_ENST00000480966.1_5'UTR	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16			4					ACCATCACCACGCTGGGGAGG	0.512000																								0							SO:0001630	splice_region_variant			ENST00000376442.3	1	0	hg19	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660165	0.67586	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.24723	1.84;1.84	4.9	4.9	0.64082	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.995;0.99;0.999	P;D;D	0.65874	0.791;0.914;0.939	T	0.65796	-0.6081	10	0.87932	D	0	.	17.3695	0.87372	0.0:1.0:0.0:0.0	.	456;516;35	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	M	516;35	ENSP00000365625:V516M;ENSP00000365620:V35M	ENSP00000365620:V35M	V	-	1	0	DHX16	30735997	0.996000	0.38824	0.962000	0.40283	0.409000	0.31022	3.337000	0.52120	2.707000	0.92482	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	0	0	1	41	209	0	52	1	9.999977e-01	26	78	0	52	2		0	0	0	0	0	2	1	1	41	207	0	52	2								-20.000000	1	1	116476	2	35	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
DHX16	8449	broad.mit.edu	37	6	30630467	30630467	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30630467C>T	ENST00000376442.3	-	9	1676	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	DHX16_ENST00000376437.5_5'Flank|DHX16_ENST00000480966.1_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16			4					TGTCATGTAGCGGAGGACAGT	0.547000																								0							SO:0001583	missense			ENST00000376442.3	1	1	hg19	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663347	0.88251	.	.	ENSG00000204560	ENST00000376442	T	0.32515	1.45	5.39	5.39	0.77823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.052497	0.64402	D	0.000001	T	0.29976	0.0750	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.58266	0.836;0.803	T	0.09640	-1.0665	10	0.87932	D	0	.	8.0096	0.30344	0.0:0.8351:0.0:0.1648	.	434;494	B4DZ28;O60231	.;DHX16_HUMAN	H	494	ENSP00000365625:R494H	ENSP00000365625:R494H	R	-	2	0	DHX16	30738446	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.861000	0.62969	2.809000	0.96659	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	1	0	1	54	204	0	54	1	9.999982e-01	21	57	0	54	2		0	0	0	0	0	2	1	1	53	201	0	53	2								-3.796566	1	1	118256	4	35	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHX16	8449	broad.mit.edu	37	6	30632720	30632720	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30632720A>C	ENST00000376442.3	-	7	1370	c.1175T>G	c.(1174-1176)aTc>aGc	p.I392S	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16			4					GACGGCCTGGATGGACTCTTT	0.567000																								0							SO:0001583	missense			ENST00000376442.3	0	1	hg19	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130383	0.77549	.	.	ENSG00000204560	ENST00000376442	T	0.02656	4.21	5.18	3.97	0.46021	.	0.155354	0.56097	D	0.000025	T	0.11580	0.0282	M	0.93150	3.385	0.80722	D	1	D;D	0.63880	0.99;0.993	P;D	0.68621	0.902;0.959	T	0.00320	-1.1820	10	0.87932	D	0	.	9.3119	0.37910	0.8409:0.0:0.0:0.1591	.	332;392	B4DZ28;O60231	.;DHX16_HUMAN	S	392	ENSP00000365625:I392S	ENSP00000365625:I392S	I	-	2	0	DHX16	30740699	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.348000	0.59379	1.959000	0.56917	0.402000	0.26972	ATC		TCGA-IB-7651-01A-11D-2154-08	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	0	0	0	6	245	0	50	0	6.923005e-01	0	95	0	50	2		0	0	0	0	0	2	1	9.637311e-01	6	241	0	50	2								-7.530093	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.290000	0.120000	0.550000	0.270000	0.313700	0.290000	0	1.900000e-01	4.200000e-01
DHX16	8449	broad.mit.edu	37	6	30638717	30638717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30638717C>A	ENST00000376442.3	-	3	654	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16			4					TCTCTGTCTGCTGTTTACTCC	0.562000																								0							SO:0001583	missense			ENST00000376442.3	1	1	hg19	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	9.311	1.055593	0.19907	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.65549	-0.16;1.94	4.58	2.72	0.32119	.	0.832667	0.10921	N	0.619429	T	0.18676	0.0448	N	0.08118	0	0.39635	D	0.970235	B;B	0.33841	0.428;0.428	B;B	0.17979	0.02;0.014	T	0.06058	-1.0848	10	0.39692	T	0.17	.	7.9777	0.30164	0.0:0.7938:0.0:0.2062	.	93;153	B4DZ28;O60231	.;DHX16_HUMAN	H	153;93	ENSP00000365625:Q153H;ENSP00000399101:Q93H	ENSP00000365625:Q153H	Q	-	3	2	DHX16	30746696	0.000000	0.05858	0.154000	0.22540	0.678000	0.39670	-0.331000	0.07914	1.133000	0.42147	0.454000	0.30748	CAG		TCGA-IB-7651-01A-11D-2154-08	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	0	0	1	112	466	0	116	1	1	43	108	0	116	2		0	0	0	0	0	2	1	1	110	455	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDC1	9656	broad.mit.edu	37	6	30680738	30680738	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30680738G>A	ENST00000376406.3	-	5	1628	c.981C>T	c.(979-981)atC>atT	p.I327I	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.I327I|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1			4					TGTCGCTGTCGATGAAGCCAA	0.532000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000376406.3	0	1	hg19	CCDS34384.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	0	0	0	11	560	1	129	0	4.705805e-02	0	37	1	129	3		0	0	0	0	0	2	0	1.994354e-01	11	547	1	127	16								-2.472156	0	1	118028	5	39	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.220000	0.110000	0.380000	0.220000	0.240336	0.220000	0	1.600000e-01	3.100000e-01
DDR1	780	broad.mit.edu	37	6	30860156	30860156	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860156C>A	ENST00000324771.8	+	10	1484	c.936C>A	c.(934-936)gcC>gcA	p.A312A	MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000513240.1_Silent_p.A312A|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000418800.2_Silent_p.A312A|DDR1_ENST00000454612.2_Silent_p.A312A			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1			29				Imatinib(DB00619)	CTGCCATGGCCTGGGAGGGGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000324771.8	1	1	hg19	CCDS34385.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	1	0	1	66	288	0	54	1	1	156	245	0	54	2		0	0	0	0	0	2	1	1	64	287	0	53	2								-20.000000	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDR1	780	broad.mit.edu	37	6	30860251	30860251	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860251G>A	ENST00000324771.8	+	10	1579	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000376567.2_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H|DDR1_ENST00000454612.2_Missense_Mutation_p.R344H			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1			29				Imatinib(DB00619)	CGTGTGGCTCGCTTTCTGCAG	0.647000																								0							SO:0001583	missense			ENST00000324771.8	1	1	hg19	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557681	0.65425	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741;ENST00000451954	T;T;T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	4.23	4.23	0.50019	.	0.077813	0.53938	D	0.000046	T	0.34250	0.0891	M	0.72894	2.215	0.37933	D	0.93207	D;D;D;D	0.89917	0.993;1.0;0.996;0.988	P;D;P;P	0.78314	0.481;0.991;0.872;0.517	T	0.15752	-1.0426	9	.	.	.	.	14.1192	0.65175	0.0:0.0:1.0:0.0	.	362;140;344;344	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	H	344;344;344;344;344;344;344;344;362;344;344;140;75;27	ENSP00000318217:R344H;ENSP00000407699:R344H;ENSP00000406091:R344H;ENSP00000365753:R344H;ENSP00000365759:R344H;ENSP00000365754:R344H;ENSP00000365752:R344H;ENSP00000405039:R344H;ENSP00000422442:R362H;ENSP00000365751:R344H;ENSP00000427552:R344H;ENSP00000398682:R140H;ENSP00000354844:R75H	.	R	+	2	0	DDR1	30968230	0.976000	0.34144	0.987000	0.45799	0.592000	0.36648	3.524000	0.53495	1.905000	0.55150	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	1	0	1	82	375	0	72	1	1	244	301	0	72	2		0	0	0	0	0	2	1	1	81	363	0	72	2								-2.665893	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDR1	780	broad.mit.edu	37	6	30865220	30865220	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30865220C>A	ENST00000324771.8	+	17	2610	c.2062C>A	c.(2062-2064)Ctg>Atg	p.L688M	DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M|DDR1_ENST00000454612.2_Missense_Mutation_p.L651M			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1			29				Imatinib(DB00619)	CATTCGGCTGCTGGGCGTGTG	0.537000																								0							SO:0001583	missense			ENST00000324771.8	1	1	hg19	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.436800|3.436800	0.62955|0.62955	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000484556|ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90563	.|-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.39|5.39	2.66|2.66	0.31614|0.31614	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000005	.|D	.|0.90830	.|0.7120	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.89917	.|1.0;0.995;0.999;0.997;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.976;0.999;0.98;0.999	.|D	.|0.90163	.|0.4229	.|10	.|0.87932	.|D	.|0	.|.	8.9889|8.9889	0.36010|0.36010	0.0:0.7543:0.0:0.2457|0.0:0.7543:0.0:0.2457	.|.	.|669;152;420;694;688	.|B7Z2K0;A2ABL4;A2ABM8;Q08345-5;Q08345	.|.;.;.;.;DDR1_HUMAN	X|M	44|688;651;651;651;694;651;688;688;669;651;694;420;355	.|ENSP00000318217:L688M;ENSP00000407699:L651M;ENSP00000406091:L651M;ENSP00000365753:L651M;ENSP00000365759:L694M;ENSP00000365754:L651M;ENSP00000365752:L688M;ENSP00000405039:L688M;ENSP00000422442:L669M;ENSP00000365751:L651M;ENSP00000427552:L694M;ENSP00000398682:L420M;ENSP00000354844:L355M	.|ENSP00000318217:L688M	C|L	+|+	3|1	2|2	DDR1|DDR1	30973199|30973199	0.998000|0.998000	0.40836|0.40836	0.952000|0.952000	0.39060|0.39060	0.977000|0.977000	0.68977|0.68977	2.640000|2.640000	0.46579|0.46579	0.264000|0.264000	0.21851|0.21851	0.462000|0.462000	0.41574|0.41574	TGC|CTG		TCGA-IB-7651-01A-11D-2154-08	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	1	0	1	86	333	0	82	1	1	295	426	0	82	2		0	0	0	0	0	2	1	1	85	328	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTF2H4	2968	broad.mit.edu	37	6	30878524	30878524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30878524G>A	ENST00000259895.4	+	5	680	c.457G>A	c.(457-459)Gag>Aag	p.E153K	GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K|GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa			11					CAAGTACGCCGAGGAGCGATG	0.592000								Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000259895.4	1	1	hg19	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774068	0.31411	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.39787	1.06;1.06;1.06	5.28	5.28	0.74379	.	0.211455	0.37261	U	0.002171	T	0.07052	0.0179	N	0.01668	-0.77	0.80722	D	1	B;B;B;B	0.17667	0.014;0.023;0.008;0.008	B;B;B;B	0.15870	0.014;0.01;0.014;0.014	T	0.26608	-1.0098	10	0.06099	T	0.92	-22.7534	16.4627	0.84069	0.0:0.0:1.0:0.0	.	159;97;153;153	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	K	153;97;153	ENSP00000259895:E153K;ENSP00000442700:E97K;ENSP00000365493:E153K	ENSP00000259895:E153K	E	+	1	0	GTF2H4	30986503	1.000000	0.71417	0.975000	0.42487	0.535000	0.34838	4.069000	0.57541	2.747000	0.94245	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	1	0	1	29	135	0	39	1	9.999521e-01	19	58	0	39	2		0	0	0	0	0	2	1	1	30	131	0	39	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
VARS2	57176	broad.mit.edu	37	6	30888119	30888119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30888119C>T	ENST00000321897.5	+	13	1935	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	VARS2_ENST00000416670.2_Missense_Mutation_p.R435W|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.R295W|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial			46					GGGTCTTCACCGGTTTGTGGC	0.542000																								0							SO:0001583	missense			ENST00000321897.5	1	1	hg19	CCDS34387.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.39	3.108528	0.56291	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	4.27	4.27	0.50696	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	H	0.95079	3.62	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71971	-0.4431	10	0.87932	D	0	-10.3179	9.9348	0.41545	0.2031:0.7968:0.0:0.0	.	433;465;435	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	435;435;295;465	ENSP00000316092:R435W;ENSP00000394802:R435W;ENSP00000438200:R295W;ENSP00000441000:R465W	ENSP00000316092:R435W	R	+	1	2	VARS2	30996098	1.000000	0.71417	0.994000	0.49952	0.450000	0.32258	2.944000	0.49034	2.104000	0.64026	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	1	0	0	9	208	0	46	1	7.936654e-01	2	67	0	46	2		0	0	0	0	0	2	1	9.940170e-01	9	204	0	46	2								-3.132655	1	1	121412	2	29	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.490000	0.240000	0.840000	0.470000	0.515537	0.490000	0	3.500000e-01	6.700000e-01
VARS2	57176	broad.mit.edu	37	6	30890674	30890674	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30890674G>T	ENST00000321897.5	+	22	2738		c.e22-1		VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000476162.1_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial			46					TCTGGTTGCAGAAAAAGGACT	0.582000																								0							SO:0001630	splice_region_variant			ENST00000321897.5	1	1	hg19	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341551	0.61073	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4273	0.83818	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VARS2	30998653	1.000000	0.71417	0.993000	0.49108	0.745000	0.42441	8.836000	0.92105	2.571000	0.86741	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	1	0	1	101	447	0	93	1	4.524293e-01	7	1	0	93	2		0	0	0	0	0	2	1	1	100	437	0	91	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPCR1	135656	broad.mit.edu	37	6	30919785	30919785	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30919785A>C	ENST00000462446.1	+	2	3572	c.3544A>C	c.(3544-3546)Aga>Cga	p.R1182R	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.R24R			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1			10					GAAAACCACAAGAACCCCAGA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000462446.1	1	1	hg19	CCDS4692.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	1	0	1	87	272	0	149	1	1	176	143	0	149	2		0	0	0	0	0	2	1	1	82	260	0	148	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC21	394263	broad.mit.edu	37	6	30954944	30954944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30954944C>T	ENST00000376296.3	+	2	1233	c.992C>T	c.(991-993)aCc>aTc	p.T331I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated			42					AGCACAGCCACCAACTCTGAG	0.617000																								0							SO:0001583	missense			ENST00000376296.3	1	1	hg19	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431182	0.25726	.	.	ENSG00000204544	ENST00000376296	T	0.03301	3.98	4.59	1.84	0.25277	.	.	.	.	.	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B	0.29432	0.244	B	0.23018	0.043	T	0.47749	-0.9093	8	.	.	.	1.8137	7.8785	0.29608	0.0:0.7225:0.0:0.2775	.	331	Q5SSG8	MUC21_HUMAN	I	331	ENSP00000365473:T331I	.	T	+	2	0	MUC21	31062923	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.202000	0.09451	0.272000	0.22027	-0.229000	0.12294	ACC		TCGA-IB-7651-01A-11D-2154-08	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	1	0	1	269	1281	0	398		0	0	0	0	398	2		0	0	0	0	0	2	1	1	259	1226	0	395	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf15	29113	broad.mit.edu	37	6	31079554	31079554	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079554G>A	ENST00000259870.3	-	2	585	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15			17					ACCAGGGAGGGCGTTGGGAAA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000259870.3	1	1	hg19	CCDS4693.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	1	0	1	60	222	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1	60	220	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf15	29113	broad.mit.edu	37	6	31079823	31079823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079823G>A	ENST00000259870.3	-	2	316	c.313C>T	c.(313-315)Cct>Tct	p.P105S	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15			17					TCCATGGCAGGCAGCCCCCAC	0.622000																								0							SO:0001583	missense			ENST00000259870.3	1	1	hg19	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237102	0.39498	.	.	ENSG00000204542	ENST00000259870	T	0.07567	3.18	4.76	2.97	0.34412	.	0.437572	0.20015	N	0.101037	T	0.03178	0.0093	M	0.62723	1.935	0.09310	N	1	P	0.42203	0.773	B	0.35312	0.2	T	0.30995	-0.9959	10	0.59425	D	0.04	-1.3788	6.6477	0.22945	0.2097:0.0:0.7903:0.0	.	105	Q6UXA7	CF015_HUMAN	S	105	ENSP00000259870:P105S	ENSP00000259870:P105S	P	-	1	0	C6orf15	31187802	0.135000	0.22499	0.075000	0.20258	0.005000	0.04900	1.678000	0.37586	1.354000	0.45846	-0.148000	0.13756	CCT		TCGA-IB-7651-01A-11D-2154-08	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	1	0	0	14	351	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	9.997331e-01	13	345	0	68	2								-4.072161	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.450000	0.250000	0.700000	0.440000	0.466541	0.450000	0	3.400000e-01	5.800000e-01
C6orf15	29113	broad.mit.edu	37	6	31080049	31080049	+	Silent	SNP	G	G	A	rs145694102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31080049G>A	ENST00000259870.3	-	2	90	c.87C>T	c.(85-87)atC>atT	p.I29I	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15			17					CCACAACACCGATGCTCCGGG	0.557000																								0							SO:0001819	synonymous_variant			ENST00000259870.3	1	1	hg19	CCDS4693.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	0	0	1	74	354	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	74	346	1	91	16								-3.260233	1	1	121218	37	48	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCHCR1	54535	broad.mit.edu	37	6	31117930	31117930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31117930G>A	ENST00000376266.5	-	8	1130	c.1008C>T	c.(1006-1008)cgC>cgT	p.R336R	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Silent_p.R389R|CCHCR1_ENST00000396268.3_Silent_p.R425R|CCHCR1_ENST00000396263.2_Silent_p.R336R	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1			23					TCTCCCGCCAGCGGTTCAGCA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000376266.5	0	1	hg19	CCDS4695.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	0	0	0	7	248	0	41	0	2.958300e-01	0	35	0	41	2		0	0	0	0	0	2	1	9.793231e-01	6	243	0	40	2								-8.521523	1	0	0	0		1	1	2	3	2.052587	0	0.170000	2.060000	1.865935e-01	0.380000	0.160000	1.000000	0.320000	0.477544	0.380000	0	2.500000e-01	1
CCHCR1	54535	broad.mit.edu	37	6	31118509	31118509	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31118509G>T	ENST00000376266.5	-	6	949	c.827C>A	c.(826-828)aCc>aAc	p.T276N	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N|CCHCR1_ENST00000396268.3_Missense_Mutation_p.T365N|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1			23					CACCTGCATGGTTTCCAGAAG	0.542000																								0							SO:0001583	missense			ENST00000376266.5	1	1	hg19	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.761136	0.31137	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	4.61	3.73	0.42828	.	0.292352	0.30244	N	0.010072	T	0.07098	0.0180	M	0.72118	2.19	0.21290	N	0.999733	D;D;D;D;D	0.67145	0.991;0.966;0.992;0.991;0.996	P;P;P;P;P	0.62740	0.898;0.773;0.906;0.898;0.892	T	0.20075	-1.0286	10	0.30854	T	0.27	-5.6321	10.5851	0.45278	0.0:0.0:0.8099:0.1901	.	276;276;276;329;365	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	N	365;276;276;276;329	ENSP00000379566:T365N;ENSP00000365442:T276N;ENSP00000379561:T276N;ENSP00000401039:T329N	ENSP00000365442:T276N	T	-	2	0	CCHCR1	31226488	0.060000	0.20803	0.615000	0.29064	0.089000	0.18198	1.653000	0.37323	0.950000	0.37743	-2.180000	0.00316	ACC		TCGA-IB-7651-01A-11D-2154-08	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	1	0	1	254	947	0	248	1	9.985200e-01	15	23	0	248	2		0	0	0	0	0	2	1	1	246	925	0	245	2								-20.000000	1	1	0	0		1	1	2	3	2.052587	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCF19	6941	broad.mit.edu	37	6	31130430	31130430	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31130430G>T	ENST00000376257.3	+	4	1728	c.974G>T	c.(973-975)aGc>aTc	p.S325I	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.S325I	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19			9					GTTGGCTGCAGCATCCAGGCT	0.627000																								0							SO:0001583	missense			ENST00000376257.3	1	1	hg19	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119860	0.77323	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	D;D	0.85258	-1.96;-1.96	4.85	3.96	0.45880	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	1.639190	0.03436	N	0.208510	D	0.90184	0.6932	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81949	-0.0699	10	0.87932	D	0	-42.3361	11.364	0.49660	0.0912:0.0:0.9088:0.0	.	325	Q9Y242	TCF19_HUMAN	I	325	ENSP00000365433:S325I;ENSP00000365431:S325I	ENSP00000365431:S325I	S	+	2	0	TCF19	31238409	0.970000	0.33590	1.000000	0.80357	0.991000	0.79684	1.626000	0.37039	2.518000	0.84900	0.542000	0.68232	AGC		TCGA-IB-7651-01A-11D-2154-08	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	1	0	1	64	265	0	64	1	9.826692e-01	6	23	0	64	2		0	0	0	0	0	2	1	1	64	261	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.052587	0	0.170000	2.060000	1.865935e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BPHL	670	broad.mit.edu	37	6	3129401	3129401	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3129401C>T	ENST00000380379.5	+	4	550	c.501C>T	c.(499-501)taC>taT	p.Y167Y	BPHL_ENST00000380368.2_Silent_p.Y150Y|BPHL_ENST00000380375.3_Silent_p.Y150Y|BPHL_ENST00000434640.1_Silent_p.Y150Y	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)			13	Ovarian(93;0.0386)	all_hematologic(90;0.108)			CCAACGCCTACGTCACTGACG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000380379.5	1	1	hg19	CCDS4483.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5	1	0	0	39	199	0	50	1	9.968398e-01	15	33	0	50	2		0	0	0	0	0	2	1	1	39	197	0	50	2								-20.000000	1	1	121410	17	41	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
LTB	4050	broad.mit.edu	37	6	31548600	31548600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31548600G>A	ENST00000429299.2	-	4	628	c.621C>T	c.(619-621)ttC>ttT	p.F207F	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)			9					CCAGGCCGCCGAACCCCACGC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000429299.2	1	1	hg19	CCDS4703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3	1	0	1	40	125	0	31	1	9.999918e-01	7	54	0	31	2		0	0	0	0	0	2	1	1	39	120	0	31	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf47	57827	broad.mit.edu	37	6	31626860	31626860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31626860C>T	ENST00000375911.1	-	1	1689	c.865G>A	c.(865-867)Gac>Aac	p.D289N	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47			9					TTTCCCGGGTCTCCCCTCTGC	0.602000																								0							SO:0001583	missense			ENST00000375911.1	1	1	hg19	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377454	0.42105	.	.	ENSG00000204439	ENST00000375911	T	0.34275	1.37	5.57	4.7	0.59300	.	0.204062	0.28365	N	0.015617	T	0.13072	0.0317	L	0.36672	1.1	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.03287	-1.1052	10	0.31617	T	0.26	-4.1094	10.8769	0.46917	0.0:0.9103:0.0:0.0897	.	289	O95873	CF047_HUMAN	N	289	ENSP00000365076:D289N	ENSP00000365076:D289N	D	-	1	0	C6orf47	31734839	0.081000	0.21417	0.951000	0.38953	0.913000	0.54294	1.516000	0.35856	2.633000	0.89246	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	0	0	0	31	678	1	157	0	2.440505e-01	0	21	1	157	2		0	0	0	0	0	2	1	9.858270e-01	29	641	1	154	16								-4.856392	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.500000	0.350000	0.690000	0.500000	0.519324	0.500000	0	4.200000e-01	6.100000e-01
VARS	7407	broad.mit.edu	37	6	31749480	31749480	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749480G>T	ENST00000375663.3	-	20	2846	c.2406C>A	c.(2404-2406)ggC>ggA	p.G802G	VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase			30				L-Valine(DB00161)	GGTTGGGCCAGCCCAAAATGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000375663.3	1	1	hg19	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569406	0.13560	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.64	3.61	0.41365	.	.	.	.	.	T	0.58264	0.2110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59716	-0.7402	4	.	.	.	-24.8287	13.7946	0.63164	0.0:0.0:0.712:0.288	.	.	.	.	M	120	.	.	L	-	1	2	VARS	31857459	0.970000	0.33590	1.000000	0.80357	0.791000	0.44710	-0.035000	0.12205	1.333000	0.45449	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	1	0	1	46	256	0	56	1	1	50	131	0	56	2		0	0	0	0	0	2	1	1	46	250	0	50	2								-3.084063	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
VARS	7407	broad.mit.edu	37	6	31749699	31749699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749699G>A	ENST00000375663.3	-	19	2712	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C	VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase			30				L-Valine(DB00161)	GCCTCATTGCGTCCACTCACC	0.637000																								0							SO:0001583	missense			ENST00000375663.3	1	1	hg19	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.40|12.40	1.928076|1.928076	0.34002|0.34002	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	T|.	0.22743|.	1.94|.	5.51|5.51	4.62|4.62	0.57501|0.57501	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.162696|.	0.52532|.	D|.	0.000074|.	D|D	0.82527|0.82527	0.5056|0.5056	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.87826|0.87826	0.2641|0.2641	10|5	0.87932|.	D|.	0|.	-15.5475|-15.5475	13.9063|13.9063	0.63839|0.63839	0.0:0.1538:0.8462:0.0|0.0:0.1538:0.8462:0.0	.|.	758|.	P26640|.	SYVC_HUMAN|.	C|M	758|75	ENSP00000364815:R758C|.	ENSP00000364815:R758C|.	R|T	-|-	1|2	0|0	VARS|VARS	31857678|31857678	0.973000|0.973000	0.33851|0.33851	0.998000|0.998000	0.56505|0.56505	0.703000|0.703000	0.40648|0.40648	1.445000|1.445000	0.35079|0.35079	1.290000|1.290000	0.44636|0.44636	0.563000|0.563000	0.77884|0.77884	CGC|ACG		TCGA-IB-7651-01A-11D-2154-08	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	0	0	1	190	885	1	202	1	1	45	127	1	202	5		0	0	0	0	0	2	1	1	185	867	1	200	18								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HSPA1A	3303	broad.mit.edu	37	6	31785396	31785396	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31785396C>T	ENST00000375651.5	+	1	2106	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	HSPA1A_ENST00000458062.2_Silent_p.G530G|HSPA1L_ENST00000375654.4_5'Flank|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000608703.1_Silent_p.G456G	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A			3					GGCCTGGGGGCTTCGGGGCTC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000375651.5	1	1	hg19	CCDS34414.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2	1	0	1	98	439	0	81	0	1	1	134	0	81	2		0	0	0	0	0	2	1	1	98	430	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC44A4	80736	broad.mit.edu	37	6	31832662	31832662	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31832662G>A	ENST00000229729.6	-	19	1877	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	SLC44A4_ENST00000544672.1_Silent_p.S543S|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Silent_p.S577S	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4			35				Choline(DB00122)	GGATGCGACCGGAGAAAAAAA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000229729.6	1	1	hg19	CCDS4724.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3	1	0	1	36	154	0	35	1	1	359	386	0	35	2		0	0	0	0	0	2	1	1	35	147	0	34	2								-19.975050	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
EHMT2	10919	broad.mit.edu	37	6	31851172	31851172	+	Silent	SNP	G	G	A	rs148424397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31851172G>A	ENST00000375537.4	-	23	2967	c.2961C>T	c.(2959-2961)tgC>tgT	p.C987C	EHMT2_ENST00000395728.3_Silent_p.C1044C|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.C1010C|EHMT2_ENST00000375530.4_Silent_p.C953C|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2			21					TGAGCTGGCCGCACAGGCAGT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000375537.4	1	0	hg19	CCDS4725.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	1	0	0	11	122	0	26	1	9.977883e-01	22	102	0	26	2		0	0	0	0	0	2	1	9.982960e-01	11	118	0	26	2								-3.142283	1	1	119464	109	49	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.960000	0.520000	1.000000	1.000000	0.888519	0.960000	1	7.100000e-01	1
EHMT2	10919	broad.mit.edu	37	6	31852264	31852264	+	Silent	SNP	G	G	A	rs147102570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852264G>A	ENST00000375537.4	-	21	2682	c.2676C>T	c.(2674-2676)ccC>ccT	p.P892P	EHMT2_ENST00000395728.3_Silent_p.P949P|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.P915P|EHMT2_ENST00000375530.4_Silent_p.P858P|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2			21					CGGAGCGCTCGGGAGTCAGGT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000375537.4	1	1	hg19	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	0.890	-0.725741	0.03158	3.31E-4	0.0	ENSG00000204371	ENST00000436026	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	.	.	.	.	.	.	0.35661	D	0.812562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19	0.10416	0.1643:0.257:0.4425:0.1362	.	.	.	.	X	223	.	.	R	-	1	2	EHMT2	31960243	0.000000	0.05858	0.024000	0.17045	0.110000	0.19582	-7.061000	0.00045	-4.452000	0.00048	-1.219000	0.01604	CGA		TCGA-IB-7651-01A-11D-2154-08	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	0	0	0	18	841	0	148	1	7.086382e-01	10	106	0	148	2		0	0	0	0	0	2	1	9.999771e-01	18	821	0	147	2								-1.803099	0	1	118418	4	40	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.240000	0.140000	0.370000	0.240000	0.254960	0.240000	0	1.900000e-01	3.100000e-01
EHMT2	10919	broad.mit.edu	37	6	31852732	31852732	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852732C>T	ENST00000375537.4	-	19	2411	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	EHMT2_ENST00000395728.3_Missense_Mutation_p.R859H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2			21					CAGTAGCATGCGGATCACCTC	0.657000																								0							SO:0001583	missense			ENST00000375537.4	0	1	hg19	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548211	0.86127	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.28	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.064020	0.64402	D	0.000011	T	0.49525	0.1562	L	0.55481	1.735	0.46981	D	0.999273	P;P;P;P	0.47350	0.894;0.87;0.894;0.743	B;B;B;B	0.41571	0.189;0.119;0.273;0.36	T	0.60969	-0.7157	10	0.66056	D	0.02	.	16.003	0.80308	0.0:1.0:0.0:0.0	.	825;768;802;616	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	859;825;768;802;616	ENSP00000379078:R859H;ENSP00000364678:R825H;ENSP00000364680:R768H;ENSP00000364687:R802H	ENSP00000364678:R825H	R	-	2	0	EHMT2	31960711	0.397000	0.25270	1.000000	0.80357	0.993000	0.82548	0.769000	0.26604	2.382000	0.81193	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	0	0	1	32	264	1	66	1	8.451152e-01	12	66	1	66	6		0	0	0	0	0	2	1	1	32	261	0	66	2								-2.774732	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.880000	1.000000	1.000000	0.992469	0.990000	1	9.900000e-01	1
EHMT2	10919	broad.mit.edu	37	6	31860299	31860299	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31860299G>A	ENST00000375537.4	-	7	755	c.749C>T	c.(748-750)aCc>aTc	p.T250I	EHMT2_ENST00000395728.3_Missense_Mutation_p.T307I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2			21					TTTCGTCAGGGTCACTTCTCC	0.542000																								0							SO:0001583	missense			ENST00000375537.4	1	1	hg19	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873501	0.33069	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70282	-0.46;-0.45;-0.41;-0.47	4.88	3.07	0.35406	.	0.284204	0.25581	N	0.029689	T	0.24431	0.0592	N	0.08118	0	0.26303	N	0.97794	B;B;B;B	0.10296	0.0;0.001;0.0;0.003	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.14868	-1.0457	10	0.32370	T	0.25	.	6.3179	0.21200	0.3064:0.0:0.6936:0.0	.	307;250;250;64	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	307;307;250;250;64	ENSP00000379078:T307I;ENSP00000364678:T307I;ENSP00000364680:T250I;ENSP00000364687:T250I	ENSP00000364678:T307I	T	-	2	0	EHMT2	31968278	0.149000	0.22717	1.000000	0.80357	0.835000	0.47333	0.373000	0.20484	0.758000	0.33059	0.591000	0.81541	ACC		TCGA-IB-7651-01A-11D-2154-08	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	1	0	1	49	247	0	74	1	9.999805e-01	15	69	0	74	2		0	0	0	0	0	2	1	1	48	240	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2	717	broad.mit.edu	37	6	31895572	31895572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31895572C>A	ENST00000299367.5	+	1	319	c.43C>A	c.(43-45)Cca>Aca	p.P15T	C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.P15T|CFB_ENST00000456570.1_Missense_Mutation_p.P15T|CFB_ENST00000477310.1_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2			27		Ovarian(999;0.00965)			GTTCCTGTACCCAGGTAGGAG	0.567000																								0							SO:0001583	missense			ENST00000299367.5	1	0	hg19	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069252	0.55539	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;T;D;T;T;D;D;D	0.87103	1.47;-1.43;-2.21;1.29;1.3;-1.57;-1.57;-1.55	5.75	2.86	0.33363	.	0.403728	0.18365	N	0.143459	T	0.49983	0.1589	.	.	.	0.80722	D	1	B;B;B;B;B	0.27853	0.0;0.001;0.001;0.0;0.191	B;B;B;B;B	0.29267	0.001;0.002;0.002;0.002;0.1	T	0.54302	-0.8314	9	0.02654	T	1	-0.4943	5.4073	0.16328	0.1386:0.6258:0.1515:0.0841	.	15;15;15;15;15	B4E1Z4;E9PFN7;B4DV20;P06681;Q8N6L6	.;.;.;CO2_HUMAN;.	T	15	ENSP00000403325:P15T;ENSP00000299367:P15T;ENSP00000395683:P15T;ENSP00000391354:P15T;ENSP00000406190:P15T;ENSP00000451848:P15T;ENSP00000410815:P15T;ENSP00000418996:P15T	ENSP00000299367:P15T	P	+	1	0	CFB;C2;XXbac-BPG116M5.17	32003551	0.474000	0.25886	0.999000	0.59377	0.723000	0.41478	0.451000	0.21779	0.804000	0.34136	-0.122000	0.15005	CCA		TCGA-IB-7651-01A-11D-2154-08	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9	1	0	1	205	1069	0	260	1	1	17	286	0	260	2		0	0	0	0	0	2	1	1	202	1051	0	256	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C2	717	broad.mit.edu	37	6	31905129	31905129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31905129C>T	ENST00000299367.5	+	8	1298	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	C2_ENST00000469372.1_Missense_Mutation_p.A95V|CFB_ENST00000456570.1_Missense_Mutation_p.A188V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V|C2_ENST00000452323.2_Missense_Mutation_p.A127V|CFB_ENST00000556679.1_Missense_Mutation_p.A188V|C2_ENST00000442278.2_Missense_Mutation_p.A209V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2			27		Ovarian(999;0.00965)			AACACCTATGCGGCCTTAAAC	0.478000																								0							SO:0001583	missense			ENST00000299367.5	1	0	hg19	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.06|11.06	1.527494|1.527494	0.27299|0.27299	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	D;D;D;D;D;D;D;D|.	0.84370|.	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84|.	4.97|4.97	-0.3|-0.3	0.12804|0.12804	von Willebrand factor, type A (3);|.	1.092690|.	0.07188|.	N|.	0.855182|.	T|T	0.18173|0.18173	0.0436|0.0436	L|L	0.46819|0.46819	1.47|1.47	0.09310|0.09310	N|N	1|1	P;B;B;B;B;B;B;B|.	0.35363|.	0.497;0.21;0.103;0.028;0.094;0.094;0.031;0.103|.	B;B;B;B;B;B;B;B|.	0.28139|.	0.036;0.008;0.012;0.007;0.012;0.012;0.086;0.005|.	T|T	0.28586|0.28586	-1.0039|-1.0039	10|5	0.46703|.	T|.	0.11|.	-4.707|-4.707	6.1284|6.1284	0.20192|0.20192	0.376:0.4561:0.168:0.0|0.376:0.4561:0.168:0.0	.|.	188;312;127;95;209;209;341;128|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;CO2_HUMAN;.|.	V|W	95;128;128;127;341;26;209;188;188;159|115	ENSP00000418923:A95V;ENSP00000417482:A128V;ENSP00000392322:A127V;ENSP00000299367:A341V;ENSP00000395683:A209V;ENSP00000451848:A188V;ENSP00000410815:A188V;ENSP00000418996:A159V|.	ENSP00000299367:A341V|.	A|R	+|+	2|1	0|2	CFB;C2;XXbac-BPG116M5.17|C2	32013108|32013108	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.055000|0.055000	0.15305|0.15305	0.018000|0.018000	0.13422|0.13422	0.073000|0.073000	0.16731|0.16731	-0.433000|-0.433000	0.05886|0.05886	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9	1	0	1	91	511	0	125	1	1	19	359	0	125	2		0	0	0	0	0	2	1	1	89	504	0	124	2								-3.319286	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CFB	629	broad.mit.edu	37	6	31914967	31914967	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31914967G>A	ENST00000425368.2	+	3	995	c.482G>A	c.(481-483)gGa>gAa	p.G161E	CFB_ENST00000456570.1_Missense_Mutation_p.G663E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E|CFB_ENST00000556679.1_Missense_Mutation_p.G663E	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B			21					TGTGACAACGGAGGTGAGAAG	0.597000																								0							SO:0001583	missense			ENST00000425368.2	1	1	hg19	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511718	0.64522	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;T;D;T	0.81579	-1.51;-1.4;-1.51;-1.47	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000239	D	0.83505	0.5269	L	0.43646	1.37	0.43678	D	0.996116	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.85611	0.1258	10	0.72032	D	0.01	-13.6748	16.3637	0.83296	0.0:0.0:1.0:0.0	.	663;161;161	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	E	663;161;663;512	ENSP00000451848:G663E;ENSP00000416561:G161E;ENSP00000410815:G663E;ENSP00000418996:G512E	ENSP00000416561:G161E	G	+	2	0	CFB;XXbac-BPG116M5.17	32022946	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.102000	0.64572	2.404000	0.81709	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	1	0	1	70	310	0	73	1	1	377	703	0	73	2		0	0	0	0	0	2	1	1	69	307	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SKIV2L	6499	broad.mit.edu	37	6	31930244	31930244	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930244C>A	ENST00000375394.2	+	11	1206	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)			4					CATCAAGGCCCTGAGCAACCA	0.592000																								0							SO:0001583	missense			ENST00000375394.2	1	1	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753928	0.69648	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47528	0.84;0.84	5.49	3.7	0.42460	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.76428	0.3986	H	0.99806	4.795	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.81581	-0.0867	10	0.87932	D	0	-11.2948	8.7438	0.34573	0.0:0.7618:0.0:0.2382	.	365	Q15477	SKIV2_HUMAN	M	365;207;172	ENSP00000364543:L365M;ENSP00000442645:L172M	ENSP00000364543:L365M	L	+	1	2	SKIV2L	32038223	0.423000	0.25482	0.999000	0.59377	0.996000	0.88848	1.010000	0.29898	0.678000	0.31325	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3	1	0	1	66	268	0	82	1	9.999992e-01	27	59	0	82	2		0	0	0	0	0	2	1	1	66	262	0	82	2								-3.249117	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SKIV2L	6499	broad.mit.edu	37	6	31930327	31930327	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930327G>T	ENST00000375394.2	+	11	1289	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D	SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)			4					TGCATCCGGAGGCCTCCTGCC	0.572000																								0							SO:0001583	missense			ENST00000375394.2	1	1	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958804	0.34565	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.71103	-0.54;-0.54	5.49	-0.429	0.12303	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056470	0.64402	D	0.000001	T	0.19327	0.0464	N	0.05280	-0.08	0.40523	D	0.980855	B	0.13145	0.007	B	0.10450	0.005	T	0.03249	-1.1056	10	0.21014	T	0.42	-25.6916	2.1569	0.03814	0.409:0.1223:0.3444:0.1242	.	392	Q15477	SKIV2_HUMAN	D	392;234;199	ENSP00000364543:E392D;ENSP00000442645:E199D	ENSP00000364543:E392D	E	+	3	2	SKIV2L	32038306	0.883000	0.30277	0.870000	0.34147	0.700000	0.40528	-0.036000	0.12185	-0.014000	0.14175	-0.345000	0.07892	GAG		TCGA-IB-7651-01A-11D-2154-08	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3	1	0	1	49	206	0	63	1	9.999962e-01	18	64	0	63	2		0	0	0	0	0	2	1	1	48	201	0	62	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SKIV2L	6499	broad.mit.edu	37	6	31933776	31933776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31933776C>T	ENST00000375394.2	+	18	2301	c.2188C>T	c.(2188-2190)Cac>Tac	p.H730Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)			4					GGCAGACCTGCACCGCATGAT	0.622000																								0							SO:0001583	missense			ENST00000375394.2	0	1	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910495	0.92107	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.47177	0.97;0.85	5.42	5.42	0.78866	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.17278	0.47	0.80722	D	1	D	0.60575	0.988	P	0.52514	0.701	T	0.37549	-0.9701	10	0.62326	D	0.03	-23.8527	17.9769	0.89130	0.0:1.0:0.0:0.0	.	730	Q15477	SKIV2_HUMAN	Y	730;572;537	ENSP00000364543:H730Y;ENSP00000442645:H537Y	ENSP00000364543:H730Y	H	+	1	0	SKIV2L	32041755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.427000	0.73378	2.545000	0.85829	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3	1	0	0	25	92	0	9	1	9.999862e-01	21	52	0	9	2		0	0	0	0	0	2	1	9.999999e-01	24	92	0	9	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
SKIV2L	6499	broad.mit.edu	37	6	31936211	31936211	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31936211C>G	ENST00000375394.2	+	24	3078	c.2965C>G	c.(2965-2967)Cag>Gag	p.Q989E	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)			4					CAATGACCTGCAGCTCAAAGA	0.632000																								0							SO:0001583	missense			ENST00000375394.2	1	1	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878536	0.33162	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.46451	0.99;0.87	5.14	5.14	0.70334	.	0.164519	0.56097	D	0.000030	T	0.32406	0.0828	L	0.50333	1.59	0.37894	D	0.930823	P	0.43542	0.81	B	0.43478	0.421	T	0.09796	-1.0658	10	0.37606	T	0.19	-22.6152	17.7336	0.88386	0.0:1.0:0.0:0.0	.	989	Q15477	SKIV2_HUMAN	E	989;831;796	ENSP00000364543:Q989E;ENSP00000442645:Q796E	ENSP00000364543:Q989E	Q	+	1	0	SKIV2L	32044190	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.574000	0.74014	2.549000	0.85964	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3	1	0	1	91	457	0	111	1	9.998260e-01	20	45	0	111	2		0	0	0	0	0	2	1	1	91	450	0	111	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNXB	7148	broad.mit.edu	37	6	32010286	32010286	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32010286G>A	ENST00000375244.3	-	40	12357	c.12156C>T	c.(12154-12156)cgC>cgT	p.R4052R	TNXB_ENST00000375247.2_Silent_p.R4050R|TNXB_ENST00000451343.1_Silent_p.R481R			P22105	TENX_HUMAN	tenascin XB			8					GGGGCCGCTCGCGGTTGCCGT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000375244.3	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	0	13	267	0	46	0	6.046039e-01	0	42	0	46	2		0	0	0	0	0	2	1	9.995237e-01	12	264	0	45	2								-1.518306	0	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.540000	0.300000	0.860000	0.530000	0.565936	0.540000	0	4.100000e-01	7.100000e-01
TNXB	7148	broad.mit.edu	37	6	32016159	32016159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016159G>A	ENST00000375244.3	-	29	10227	c.10026C>T	c.(10024-10026)gtC>gtT	p.V3342V	TNXB_ENST00000375247.2_Silent_p.V3340V|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB			8					CCTCCACAGGGACTGGGCCGT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000375244.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1	31	124	0	44	0	8.288424e-01	1	14	0	44	2		0	0	0	0	0	2	1	1	31	122	0	44	2								-19.811770	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TNXB	7148	broad.mit.edu	37	6	32016203	32016203	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016203A>G	ENST00000375244.3	-	29	10183	c.9982T>C	c.(9982-9984)Ttc>Ctc	p.F3328L	TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB			8					AAGAGCAGGAACTTGTACTTG	0.687000																								0							SO:0001583	missense			ENST00000375244.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	17.37	3.372198	0.61624	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59906	0.23;0.23	4.34	4.34	0.51931	.	0.724493	0.12437	N	0.469004	T	0.39963	0.1098	M	0.67700	2.07	0.26896	N	0.967218	P	0.41131	0.739	B	0.40901	0.343	T	0.25984	-1.0116	10	0.38643	T	0.18	.	9.0473	0.36354	0.8142:0.1858:0.0:0.0	.	3326	P22105-3	.	L	3328;3326	ENSP00000364393:F3328L;ENSP00000364396:F3326L	ENSP00000364393:F3328L	F	-	1	0	TNXB	32124181	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	2.749000	0.47492	1.819000	0.53055	0.402000	0.26972	TTC		TCGA-IB-7651-01A-11D-2154-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1	24	145	0	55	1	6.551533e-01	5	10	0	55	2		0	0	0	0	0	2	1	9.999998e-01	23	142	0	54	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999237	0.990000	1	9.900000e-01	1
TNXB	7148	broad.mit.edu	37	6	32029210	32029210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32029210G>A	ENST00000375244.3	-	21	7657	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W			P22105	TENX_HUMAN	tenascin XB			8					CCCACGCGCCGCCCCTCGTGG	0.647000																								0							SO:0001583	missense			ENST00000375244.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.14	1.849156	0.32699	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	4.28	2.41	0.29592	.	0.747652	0.11920	N	0.516766	T	0.04182	0.0116	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	P	0.57846	0.828	T	0.35375	-0.9791	10	0.66056	D	0.02	.	2.9097	0.05733	0.1003:0.1816:0.5306:0.1875	.	2486	P22105-3	.	W	2486	ENSP00000364393:R2486W;ENSP00000364396:R2486W	ENSP00000364393:R2486W	R	-	1	2	TNXB	32137188	0.002000	0.14202	0.001000	0.08648	0.114000	0.19823	1.141000	0.31528	0.383000	0.24910	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	0	38	872	0	124	0	4.381667e-02	0	8	0	124	2		0	0	0	0	0	2	1	1	36	846	0	128	2								-3.989037	1	1	120762	4	43	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.480000	0.340000	0.640000	0.480000	0.494244	0.480000	0	4.100000e-01	5.700000e-01
TNXB	7148	broad.mit.edu	37	6	32036330	32036330	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32036330G>A	ENST00000375244.3	-	17	6258	c.6057C>T	c.(6055-6057)gtC>gtT	p.V2019V	TNXB_ENST00000375247.2_Silent_p.V2019V			P22105	TENX_HUMAN	tenascin XB			8					TCCTGTACTGGACCAGGAAGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000375244.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1	38	184	0	49	1	7.850400e-01	3	13	0	49	2		0	0	0	0	0	2	1	1	38	181	0	49	2								-19.939670	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TNXB	7148	broad.mit.edu	37	6	32052335	32052335	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32052335G>A	ENST00000375244.3	-	8	3501	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	TNXB_ENST00000375247.2_Silent_p.D1100D			P22105	TENX_HUMAN	tenascin XB			8					GGGGCTGCCCGTCCCTGTCTT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000375244.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	1	0	1	17	144	0	36	0	3.456211e-01	1	10	0	36	2		0	0	0	0	0	2	1	9.999728e-01	17	143	0	36	2								-8.630310	1	1	120056	1	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.750000	1.000000	1.000000	0.975935	0.990000	1	9.600000e-01	1
TNXB	7148	broad.mit.edu	37	6	32063627	32063627	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32063627A>G	ENST00000479795.1	-	3	2143	c.2003T>C	c.(2002-2004)cTg>cCg	p.L668P	TNXB_ENST00000375247.2_Missense_Mutation_p.L668P|TNXB_ENST00000375244.3_Missense_Mutation_p.L668P			P22105	TENX_HUMAN	tenascin XB			8					CACGTGGCACAGGCACACTCC	0.721000																								0							SO:0001583	missense			ENST00000479795.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.66	1.413962	0.25465	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.07688	3.88;3.88;3.17	4.25	1.74	0.24563	.	1.326850	0.05510	N	0.560107	T	0.09818	0.0241	M	0.72894	2.215	0.39173	D	0.962636	P	0.52692	0.955	P	0.54312	0.748	T	0.26815	-1.0092	10	0.72032	D	0.01	.	4.641	0.12548	0.6523:0.1657:0.182:0.0	.	668	P22105-3	.	P	668	ENSP00000364393:L668P;ENSP00000364396:L668P;ENSP00000418248:L668P	ENSP00000364393:L668P	L	-	2	0	TNXB	32171605	0.197000	0.23362	0.133000	0.22050	0.015000	0.08874	2.669000	0.46825	0.178000	0.19917	-0.460000	0.05396	CTG		TCGA-IB-7651-01A-11D-2154-08	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	1	0	1	18	103	0	20	0	1.758671e-01	0	5	0	20	2		0	0	0	0	0	2	1	9.999873e-01	18	101	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998470	0.990000	1	9.900000e-01	1
TNXB	7148	broad.mit.edu	37	6	32064837	32064837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32064837C>T	ENST00000479795.1	-	3	933	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	TNXB_ENST00000375247.2_Missense_Mutation_p.V265M|TNXB_ENST00000375244.3_Missense_Mutation_p.V265M			P22105	TENX_HUMAN	tenascin XB			8					GGGTCACACACGCAGCGCCCA	0.667000																								0							SO:0001583	missense			ENST00000479795.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.26	1.585053	0.28268	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11495	2.77;2.77;3.12	4.57	2.75	0.32379	.	0.466924	0.15993	N	0.234727	T	0.21227	0.0511	M	0.89095	3.005	0.23501	N	0.997549	D	0.89917	1.0	D	0.87578	0.998	T	0.04664	-1.0935	10	0.72032	D	0.01	.	7.1375	0.25537	0.0:0.7045:0.0:0.2955	.	265	P22105-3	.	M	265	ENSP00000364393:V265M;ENSP00000364396:V265M;ENSP00000418248:V265M	ENSP00000364393:V265M	V	-	1	0	TNXB	32172815	0.012000	0.17670	1.000000	0.80357	0.078000	0.17371	0.141000	0.16076	0.912000	0.36772	-0.140000	0.14226	GTG		TCGA-IB-7651-01A-11D-2154-08	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	1	0	1	32	151	0	32	1	2.187383e-01	2	3	0	32	2		0	0	0	0	0	2	1	1	31	149	0	31	2								-18.764950	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
ATF6B	1388	broad.mit.edu	37	6	32095235	32095235	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095235G>A	ENST00000375203.3	-	3	266	c.234C>T	c.(232-234)ctC>ctT	p.L78L	ATF6B_ENST00000375201.4_Silent_p.L75L|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta			22					AGATCGGCAGGAGTTCCCATG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000375203.3	1	1	hg19	CCDS4737.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2	1	0	1	12	159	0	37	1	9.999955e-01	42	302	0	37	2		0	0	0	0	0	2	1	9.989613e-01	11	152	0	35	2								-5.534436	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.820000	0.450000	1.000000	1.000000	0.810579	0.820000	0	6.100000e-01	1
ATF6B	1388	broad.mit.edu	37	6	32095969	32095969	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095969G>T	ENST00000375203.3	-	1	48	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	ATF6B_ENST00000375201.4_Missense_Mutation_p.L6M|ATF6B_ENST00000468502.1_5'UTR	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta			22					TCGCTGAGCAGCATCAGCTCC	0.607000																								0							SO:0001583	missense			ENST00000375203.3	1	1	hg19	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780204	0.90195	.	.	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.64803	-0.12;0.61	5.36	5.36	0.76844	.	0.415062	0.18475	U	0.140117	T	0.71517	0.3349	M	0.64997	1.995	0.35380	D	0.789878	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.997;0.998;0.994	T	0.74315	-0.3705	10	0.72032	D	0.01	-16.4553	14.4499	0.67376	0.0:0.0:1.0:0.0	.	6;6;6	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	M	6	ENSP00000364349:L6M;ENSP00000364347:L6M	ENSP00000364338:L6M	L	-	1	2	ATF6B	32203947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	2.789000	0.95967	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2	1	0	1	57	249	0	45	1	1	83	188	0	45	2		0	0	0	0	0	2	1	1	56	248	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPT2	9374	broad.mit.edu	37	6	32130344	32130344	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130344G>A	ENST00000324816.6	+	8	1278		c.e8-1		PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000445576.2_Splice_Site|EGFL8_ENST00000333845.6_5'Flank|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PPT2-EGFL8_ENST00000422437.1_Splice_Site|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2			17					TCTCTTTGTAGCTTCTTTGGT	0.542000																								0							SO:0001630	splice_region_variant			ENST00000324816.6	0	1	hg19	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307831	0.81247	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6834	0.62502	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPT2	32238322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.851000	0.75425	2.685000	0.91497	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	0	0	0	55	1461	0	363	0	1.384310e-03	0	2	0	363	2		0	0	0	0	0	2	1	1	54	1397	0	360	2								-4.298983	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.410000	0.310000	0.540000	0.420000	0.427359	0.410000	0	3.600000e-01	4.800000e-01
PPT2	9374	broad.mit.edu	37	6	32130591	32130591	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130591T>C	ENST00000324816.6	+	9	1341	c.773T>C	c.(772-774)cTg>cCg	p.L258P	PPT2_ENST00000437001.2_Intron|PPT2_ENST00000445576.2_Intron|EGFL8_ENST00000333845.6_5'Flank|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|PPT2-EGFL8_ENST00000422437.1_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2			17					AAGGTTTATCTGCGGGATTCT	0.562000																								0							SO:0001583	missense			ENST00000324816.6	1	1	hg19	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258556	0.59321	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000324816;ENST00000375137;ENST00000375143	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	5.81	5.81	0.92471	.	0.080153	0.51477	D	0.000092	D	0.95140	0.8425	L	0.47190	1.495	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.57324	0.752;0.818	D	0.94354	0.7582	10	0.35671	T	0.21	-8.3285	12.5588	0.56269	0.0:0.0:0.0:1.0	.	258;264	Q9UMR5;B0S872	PPT2_HUMAN;.	P	264;258;258;258;258	ENSP00000354608:L264P;ENSP00000378894:L258P;ENSP00000320528:L258P;ENSP00000364279:L258P;ENSP00000364285:L258P	ENSP00000320528:L258P	L	+	2	0	PPT2	32238569	0.929000	0.31497	0.997000	0.53966	0.988000	0.76386	2.341000	0.43983	2.210000	0.71456	0.533000	0.62120	CTG		TCGA-IB-7651-01A-11D-2154-08	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	1	0	1	113	894	0	187	1	9.994881e-01	18	68	0	187	2		0	0	0	0	0	2	1	1	106	868	0	179	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
AGPAT1	10554	broad.mit.edu	37	6	32137097	32137097	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32137097G>A	ENST00000395499.1	-	7	1387	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R270W|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1			12					CCACCACCCCGGCCATCAGTG	0.612000																								0							SO:0001583	missense			ENST00000395499.1	0	1	hg19	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880842	0.51801	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465	D;D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.6	1.37	0.22104	.	0.564260	0.17429	N	0.174560	T	0.80003	0.4544	L	0.29908	0.895	0.29476	N	0.856724	P;D;P	0.56287	0.623;0.975;0.857	B;B;B	0.37422	0.165;0.249;0.165	T	0.72571	-0.4253	10	0.72032	D	0.01	-8.6565	12.9503	0.58397	0.0:0.0:0.3832:0.6168	.	234;160;270	B4DRH1;B3KPH3;Q99943	.;.;PLCA_HUMAN	W	270;270;270;270;270;270;158	ENSP00000378874:R270W;ENSP00000364248:R270W;ENSP00000378877:R270W;ENSP00000364245:R270W;ENSP00000378875:R270W;ENSP00000337463:R270W;ENSP00000410473:R158W	ENSP00000337463:R270W	R	-	1	2	AGPAT1	32245075	.	.	1.000000	0.80357	0.996000	0.88848	.	.	0.210000	0.20664	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	0	0	0	8	476	0	96	1	9.848945e-01	4	439	0	96	2		0	0	0	0	0	2	1	9.883530e-01	7	465	0	94	2								-2.297307	0	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.190000	0.090000	0.360000	0.190000	0.212943	0.190000	0	1.300000e-01	2.800000e-01
AGPAT1	10554	broad.mit.edu	37	6	32138808	32138808	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32138808G>A	ENST00000395499.1	-	3	819	c.240C>T	c.(238-240)taC>taT	p.Y80Y	AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Silent_p.Y80Y|AGPAT1_ENST00000375104.2_Silent_p.Y80Y|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375107.3_Silent_p.Y80Y|AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000336984.6_Silent_p.Y80Y			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1			12					CTCGGATCCCGTACAGGTATT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000395499.1	0	1	hg19	CCDS4744.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	0	0	0	12	451	0	96	1	9.877752e-01	11	269	0	96	2		0	0	0	0	0	2	1	9.989617e-01	12	438	0	95	2								-2.736815	1	1	117874	5	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.300000	0.160000	0.500000	0.300000	0.321315	0.300000	0	2.200000e-01	4.000000e-01
RNF5	6048	broad.mit.edu	37	6	32147691	32147691	+	Missense_Mutation	SNP	G	G	A	rs151021379	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32147691G>A	ENST00000375094.3	+	4	468	c.310G>A	c.(310-312)Gct>Act	p.A104T	AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.A104T|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000395499.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase			10					CCAGAGACCAGCTCCGGAGAG	0.527000																								0							SO:0001583	missense			ENST00000375094.3	1	0	hg19	CCDS4745.1	10	0.004578754578754579	1	0.0020325203252032522	6	0.016574585635359115	3	0.005244755244755245	0	0.0	G	16.81	3.224766	0.58668	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93811	-3.29;-3.29	5.13	4.19	0.49359	.	0.067564	0.64402	D	0.000018	D	0.85613	0.5737	L	0.27053	0.805	0.35328	D	0.78533	P	0.42785	0.79	B	0.42188	0.379	D	0.88765	0.3260	10	0.87932	D	0	-8.4379	13.1135	0.59288	0.0:0.1623:0.8377:0.0	.	104	Q99942	RNF5_HUMAN	T	104	ENSP00000364235:A104T;ENSP00000407656:A104T	ENSP00000364235:A104T	A	+	1	0	RNF5	32255669	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.840000	0.75369	2.539000	0.85634	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	0	0	1	122	637	1	122	1	1	140	370	1	122	15		0	0	0	0	0	2	1	1	117	628	0	122	2								-5.174491	1	1	121412	264	58	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGER	177	broad.mit.edu	37	6	32151969	32151969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32151969C>T	ENST00000375076.4	-	1	132	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|AGER_ENST00000375067.3_Missense_Mutation_p.V11M|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000438221.2_Missense_Mutation_p.V11M	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor			9					AGGACCAGCACCCAGGCTCCA	0.627000																								0							SO:0001583	missense			ENST00000375076.4	1	1	hg19	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648675	0.29336	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000546237;ENST00000438221;ENST00000375065;ENST00000450110;ENST00000375056;ENST00000538695	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.67	1.38	0.22167	.	0.482456	0.17591	N	0.168765	T	0.17789	0.0427	N	0.14661	0.345	0.80722	D	1	B;B;D;B;P;P;D;B;B;P;P;B	0.69078	0.36;0.055;0.997;0.36;0.5;0.633;0.996;0.36;0.156;0.5;0.831;0.027	B;B;D;B;B;B;D;B;B;B;B;B	0.78314	0.09;0.063;0.991;0.09;0.09;0.184;0.986;0.09;0.063;0.111;0.284;0.046	T	0.11518	-1.0584	10	0.51188	T	0.08	-4.4117	4.2601	0.10737	0.1736:0.6105:0.0:0.2159	.	11;11;11;11;11;11;11;11;11;11;11;11	B5A978;B5A979;B5A981;B5A980;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	M	11;11;11;42;11;11;11;11;11;11	ENSP00000364208:V11M;ENSP00000364195:V11M;ENSP00000364217:V11M;ENSP00000364211:V42M;ENSP00000387887:V11M;ENSP00000364206:V11M;ENSP00000398466:V11M;ENSP00000364196:V11M;ENSP00000445389:V11M	ENSP00000364195:V11M	V	-	1	0	AGER	32259947	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.350000	0.20079	0.452000	0.26830	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	1	0	1	21	132	0	28	0	2.092639e-02	0	2	0	28	2		0	0	0	0	0	2	1	9.999974e-01	19	126	0	28	2								-11.996810	1	1	119296	1	22	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998214	0.990000	1	9.900000e-01	1
NOTCH4	4855	broad.mit.edu	37	6	32163591	32163591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32163591C>T	ENST00000375023.3	-	30	5773	c.5635G>A	c.(5635-5637)Gct>Act	p.A1879T	GPSM3_ENST00000487761.1_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4			100					CAAGTCCGAGCCTGCAGACAA	0.716000																								0							SO:0001583	missense			ENST00000375023.3	1	1	hg19	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700137	0.48307	.	.	ENSG00000204301	ENST00000375023	D	0.81908	-1.55	4.01	1.18	0.20946	.	0.398940	0.18440	N	0.141164	T	0.46405	0.1391	N	0.24115	0.695	0.19575	N	0.999962	P;B	0.43477	0.808;0.011	B;B	0.35353	0.201;0.007	T	0.46386	-0.9195	10	0.62326	D	0.03	.	3.5542	0.07858	0.1977:0.5916:0.0:0.2108	.	1879;1878	Q99466;B0S882	NOTC4_HUMAN;.	T	1879	ENSP00000364163:A1879T	ENSP00000364163:A1879T	A	-	1	0	NOTCH4	32271569	0.046000	0.20272	0.001000	0.08648	0.016000	0.09150	0.250000	0.18235	0.105000	0.17753	0.455000	0.32223	GCT		TCGA-IB-7651-01A-11D-2154-08	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	0	25	102	0	23	0	7.910711e-01	0	14	0	23	2		0	0	0	0	0	2	1	9.999999e-01	25	100	0	23	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
NOTCH4	4855	broad.mit.edu	37	6	32164146	32164146	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32164146G>A	ENST00000375023.3	-	29	5391	c.5253C>T	c.(5251-5253)cgC>cgT	p.R1751R	NOTCH4_ENST00000443903.2_Intron|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4			100					GGAGAAGCGAGCGGGCGGCTC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000375023.3	1	1	hg19	CCDS34420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1	165	802	0	133	1	9.415822e-01	4	21	0	133	2		0	0	0	0	0	2	1	1	164	788	0	130	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOTCH4	4855	broad.mit.edu	37	6	32165082	32165082	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32165082G>T	ENST00000375023.3	-	27	5184	c.5046C>A	c.(5044-5046)gtC>gtA	p.V1682V	NOTCH4_ENST00000443903.2_Silent_p.V91V|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4			100					TAACCTGGCAGACCTCCCGAG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000375023.3	1	1	hg19	CCDS34420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1	80	347	0	69	0	8.288296e-01	0	16	0	69	2		0	0	0	0	0	2	1	1	79	341	0	69	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOTCH4	4855	broad.mit.edu	37	6	32166826	32166826	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32166826A>C	ENST00000375023.3	-	24	4550	c.4412T>G	c.(4411-4413)aTc>aGc	p.I1471S	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4			100					TCGACGCCGGATGAGCTGGAG	0.682000																								0							SO:0001583	missense			ENST00000375023.3	0	1	hg19	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990101	0.54041	.	.	ENSG00000204301	ENST00000375023	T	0.80480	-1.38	4.9	4.9	0.64082	.	0.363413	0.20249	N	0.096138	T	0.55097	0.1899	N	0.20685	0.6	0.80722	D	1	P;B	0.45715	0.865;0.048	P;B	0.48901	0.594;0.025	T	0.61695	-0.7010	10	0.05721	T	0.95	.	8.9676	0.35885	0.8128:0.1872:0.0:0.0	.	1471;1470	Q99466;B0S882	NOTC4_HUMAN;.	S	1471	ENSP00000364163:I1471S	ENSP00000364163:I1471S	I	-	2	0	NOTCH4	32274804	1.000000	0.71417	0.989000	0.46669	0.748000	0.42578	2.467000	0.45093	2.186000	0.69663	0.454000	0.30748	ATC		TCGA-IB-7651-01A-11D-2154-08	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	0	27	501	0	86	0	1.312458e-01	0	12	0	86	2		0	0	0	0	0	2	1	9.999999e-01	27	492	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.590000	0.400000	0.830000	0.580000	0.607990	0.590000	0	4.900000e-01	7.100000e-01
NOTCH4	4855	broad.mit.edu	37	6	32171927	32171927	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32171927C>T	ENST00000375023.3	-	19	3243	c.3105G>A	c.(3103-3105)ctG>ctA	p.L1035L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4			100					TGTGTCCAGGCAGACACTGGC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000375023.3	1	1	hg19	CCDS34420.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1	28	144	0	39	0	7.880757e-01	0	17	0	39	2		0	0	0	0	0	2	1	1	28	141	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999931	0.990000	1	9.900000e-01	1
NOTCH4	4855	broad.mit.edu	37	6	32190387	32190387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190387G>A	ENST00000375023.3	-	3	490	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4			100					GGGTCTTCAAGCTTGGCCTGG	0.627000																								0							SO:0001583	missense			ENST00000375023.3	1	1	hg19	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	4.988	0.183465	0.09495	.	.	ENSG00000204301	ENST00000375023	D	0.81996	-1.56	4.14	3.27	0.37495	Epidermal growth factor-like, type 3 (1);	0.000000	0.38058	N	0.001823	T	0.67277	0.2876	L	0.38175	1.15	0.09310	N	0.999999	D;P	0.56035	0.974;0.846	P;B	0.50136	0.632;0.157	T	0.60652	-0.7221	10	0.45353	T	0.12	.	7.1824	0.25780	0.0:0.1898:0.614:0.1962	.	118;118	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	118	ENSP00000364163:L118F	ENSP00000364163:L118F	L	-	1	0	NOTCH4	32298365	0.000000	0.05858	0.046000	0.18839	0.067000	0.16453	0.693000	0.25497	0.963000	0.38082	-0.219000	0.12488	CTT		TCGA-IB-7651-01A-11D-2154-08	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1	90	396	0	87	0	9.313835e-01	0	22	0	87	2		0	0	0	0	0	2	1	1	89	389	0	86	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOTCH4	4855	broad.mit.edu	37	6	32190464	32190464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190464C>A	ENST00000375023.3	-	3	413	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4			100					AGAGGGAGAGCTGGGGAGCCC	0.617000																								0							SO:0001583	missense			ENST00000375023.3	1	1	hg19	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	7.381	0.628773	0.14257	.	.	ENSG00000204301	ENST00000375023	T	0.11821	2.74	3.12	3.12	0.35913	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.987505	0.08238	N	0.976480	T	0.06962	0.0177	N	0.14661	0.345	0.33880	D	0.636028	D;P	0.58970	0.984;0.836	P;B	0.50754	0.649;0.329	T	0.19811	-1.0294	10	0.87932	D	0	.	9.9622	0.41704	0.0:1.0:0.0:0.0	.	92;92	Q6P3V5;Q99466	.;NOTC4_HUMAN	I	92	ENSP00000364163:S92I	ENSP00000364163:S92I	S	-	2	0	NOTCH4	32298442	0.003000	0.15002	0.006000	0.13384	0.033000	0.12548	1.745000	0.38278	2.051000	0.60960	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2	1	0	1	86	394	0	78	0	8.762899e-01	0	19	0	78	2		0	0	0	0	0	2	1	1	84	384	0	77	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TUBB2B	347733	broad.mit.edu	37	6	3227752	3227752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3227752G>A	ENST00000259818.7	-	1	217	c.26C>T	c.(25-27)gCg>gTg	p.A9V	TUBB2B_ENST00000473006.1_Intron	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb			10	Ovarian(93;0.0386)	all_hematologic(90;0.108)			GCACTGGCCCGCCTGGATGTG	0.726000																								0							SO:0001583	missense			ENST00000259818.7	1	1	hg19	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806186	0.70682	.	.	ENSG00000137285	ENST00000259818	T	0.61158	0.13	4.34	4.34	0.51931	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000023	T	0.22704	0.0548	N	0.02973	-0.45	0.80722	D	1	B;B	0.23806	0.091;0.057	B;B	0.21151	0.033;0.018	T	0.25117	-1.0141	10	0.87932	D	0	.	17.4008	0.87459	0.0:0.0:1.0:0.0	.	9;9	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	V	9	ENSP00000259818:A9V	ENSP00000259818:A9V	A	-	2	0	TUBB2B	3172751	1.000000	0.71417	0.953000	0.39169	0.884000	0.51177	3.777000	0.55364	2.403000	0.81681	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	1	0	0	46	217	0	43	0	2.896534e-01	0	6	0	43	2		0	0	0	0	0	2	1	1	45	214	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTNL2	56244	broad.mit.edu	37	6	32369565	32369565	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32369565G>A	ENST00000374993.1	-	4	726	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000454136.3_Silent_p.L243L|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374995.3_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)			19					TACTTACCCAGCTCAGTCTGG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000374993.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	30	134	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	30	132	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
BTNL2	56244	broad.mit.edu	37	6	32370729	32370729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32370729G>A	ENST00000374993.1	-	3	691	c.692C>T	c.(691-693)tCg>tTg	p.S231L	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.S231L|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)			19					GCTGATGACCGACCCCTTCTC	0.587000																								0							SO:0001583	missense			ENST00000374993.1	1	1	hg19		6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	14.29	2.490779	0.44249	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.03982	3.74	4.71	3.84	0.44239	Immunoglobulin-like (1);	1.024130	0.07817	N	0.959082	T	0.02304	0.0071	M	0.66439	2.03	0.22737	N	0.998798	B	0.20052	0.041	B	0.08055	0.003	T	0.45323	-0.9269	10	0.20519	T	0.43	.	9.1993	0.37249	0.0993:0.0:0.9007:0.0	.	231	Q9UIR0	BTNL2_HUMAN	L	231	ENSP00000364132:S231L	ENSP00000364132:S231L	S	-	2	0	BTNL2	32478707	0.024000	0.19004	0.002000	0.10522	0.001000	0.01503	2.342000	0.43992	1.378000	0.46305	0.626000	0.83405	TCG		TCGA-IB-7651-01A-11D-2154-08	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	34	125	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	33	120	0	38	2								-20.000000	1	1	117908	7	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAP2	6891	broad.mit.edu	37	6	32800500	32800500	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800500C>T	ENST00000452392.2	-	6	1220	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000374897.2_Silent_p.E349E|TAP2_ENST00000485701.1_5'UTR			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							Vitamin E(DB00163)	AGACTTCATGCTCCTCGGCCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000452392.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	1	0	0	113	426	0	96	1	1	147	426	0	96	2		0	0	0	0	0	2	1	1	109	414	0	96	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAP2	6891	broad.mit.edu	37	6	32800519	32800519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800519C>T	ENST00000452392.2	-	6	1201	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000374897.2_Missense_Mutation_p.R343H|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							Vitamin E(DB00163)	CCCAAAACTGCGAACGGTCTG	0.607000																								0							SO:0001583	missense			ENST00000452392.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.83	3.229945	0.58777	3.31E-4	0.0	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.82711	-1.64;-1.64;-1.64	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.219605	0.32204	N	0.006436	D	0.92489	0.7615	M	0.93507	3.425	0.39843	D	0.973139	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.986;0.986	D	0.93931	0.7214	9	0.87932	D	0	-13.3852	15.9458	0.79792	0.0:1.0:0.0:0.0	.	343;344;343;343	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	H	343	ENSP00000364034:R343H;ENSP00000364032:R343H;ENSP00000391806:R343H	ENSP00000364032:R343H	R	-	2	0	XXbac-BPG246D15.9;TAP2	32908497	0.997000	0.39634	1.000000	0.80357	0.131000	0.20780	2.933000	0.48948	2.619000	0.88677	0.549000	0.68633	CGC		TCGA-IB-7651-01A-11D-2154-08	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	0	0	0	16	484	0	82	1	9.999972e-01	60	653	0	82	2		0	0	0	0	0	2	1	9.999181e-01	15	471	0	82	2								-3.193530	1	1	118228	3	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.370000	0.220000	0.570000	0.370000	0.389540	0.370000	0	2.900000e-01	4.800000e-01
TAP1	6890	broad.mit.edu	37	6	32818155	32818155	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32818155A>C	ENST00000354258.4	-	5	1531	c.1370T>G	c.(1369-1371)aTa>aGa	p.I457R	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.I196R	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)			21				Lapatinib(DB01259)	GAGTGTCTTTATTTCTTGCAG	0.517000																								0							SO:0001583	missense			ENST00000354258.4	1	1	hg19	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316890	0.60524	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	T;T	0.80566	-1.39;-1.39	5.72	4.59	0.56863	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.005140	0.08010	N	0.990277	T	0.61324	0.2338	N	0.19112	0.55	0.48511	D	0.999665	P	0.38745	0.645	P	0.44422	0.449	T	0.63959	-0.6519	10	0.66056	D	0.02	-10.3736	4.4281	0.11513	0.7684:0.0:0.2316:0.0	.	457	Q03518	TAP1_HUMAN	R	457;196	ENSP00000346206:I457R;ENSP00000401919:I196R	ENSP00000346206:I457R	I	-	2	0	TAP1	32926133	0.993000	0.37304	0.366000	0.25914	0.793000	0.44817	2.439000	0.44846	2.185000	0.69588	0.523000	0.50628	ATA		TCGA-IB-7651-01A-11D-2154-08	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	1	0	1	77	323	0	84	1	1	406	870	0	84	2		0	0	0	0	0	2	1	1	75	311	0	84	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HLA-DMB	3109	broad.mit.edu	37	6	32903416	32903416	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32903416G>T	ENST00000418107.2	-	4	898	c.636C>A	c.(634-636)tcC>tcA	p.S212S	AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta			13					TCTGCATGGGGGACAGCCCAG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000418107.2	0	1	hg19	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969380	0.18659	.	.	ENSG00000242574	ENST00000414017	.	.	.	4.81	-1.08	0.09936	.	.	.	.	.	T	0.33440	0.0863	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	.	4.9558	0.14038	0.4117:0.1638:0.4244:0.0	.	.	.	.	T	102	.	.	P	-	1	0	HLA-DMB	33011394	0.010000	0.17322	0.741000	0.31004	0.990000	0.78478	-1.280000	0.02804	-0.154000	0.11118	0.448000	0.29417	CCC		TCGA-IB-7651-01A-11D-2154-08	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	0	0	0	8	297	0	45	1	9.999552e-01	7	842	0	45	2		0	0	0	0	0	2	1	9.888895e-01	8	292	0	45	2								-8.751121	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.310000	0.140000	0.560000	0.300000	0.334942	0.310000	0	2.200000e-01	4.400000e-01
BRD2	6046	broad.mit.edu	37	6	32947695	32947695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32947695C>T	ENST00000374825.4	+	11	3633	c.1932C>T	c.(1930-1932)taC>taT	p.Y644Y	BRD2_ENST00000395289.2_Silent_p.Y679Y|BRD2_ENST00000374831.4_Silent_p.Y644Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000395287.1_Silent_p.Y679Y	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2			5					CCATGAGTTACGATGAGAAGC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000374825.4	1	1	hg19	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161641	0.21538	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.51	-7.03	0.01584	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64394	-0.6418	4	.	.	.	-11.7188	16.3828	0.83481	0.0:0.271:0.0:0.729	.	.	.	.	M	650	.	.	T	+	2	0	BRD2	33055673	0.000000	0.05858	0.535000	0.28026	0.992000	0.81027	-2.064000	0.01387	-1.651000	0.01504	-0.152000	0.13540	ACG		TCGA-IB-7651-01A-11D-2154-08	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2	1	0	0	38	171	0	53	1	1	159	476	0	53	2		0	0	0	0	0	2	1	1	38	170	0	52	2								-19.994470	1	1	119448	1	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HLA-DPA1	3113	broad.mit.edu	37	6	33037542	33037542	+	Missense_Mutation	SNP	C	C	A	rs72558171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33037542C>A	ENST00000419277.1	-	3	351	c.222G>T	c.(220-222)tgG>tgT	p.W74C	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1			15					CCTCCAGATGCCAGACGGTCT	0.468000																								0							SO:0001583	missense			ENST00000419277.1	1	1	hg19	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314656	0.40996	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.00932	5.53;5.53;5.53	3.0	3.0	0.34707	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.729808	0.12564	U	0.457926	T	0.05135	0.0137	H	0.95470	3.675	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	T	0.01587	-1.1318	10	0.87932	D	0	.	12.1984	0.54311	0.0:1.0:0.0:0.0	.	74	P20036	DPA1_HUMAN	C	74	ENSP00000393566:W74C;ENSP00000402872:W74C;ENSP00000390929:W74C	ENSP00000393566:W74C	W	-	3	0	HLA-DPA1	33145520	0.992000	0.36948	0.319000	0.25293	0.688000	0.40055	2.553000	0.45837	1.601000	0.50113	0.643000	0.83706	TGG		TCGA-IB-7651-01A-11D-2154-08	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	1	0	1	68	246	0	61	1	1	551	5325	0	61	2		0	0	0	0	0	2	1	1	68	233	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL11A2	1302	broad.mit.edu	37	6	33144231	33144231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33144231G>T	ENST00000374708.4	-	25	2148	c.1890C>A	c.(1888-1890)taC>taA	p.Y630*	COL11A2_ENST00000341947.2_Nonsense_Mutation_p.Y716*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2			68					GAGGTCCTGGGTATCCTAGAG	0.572000													Melanoma(1;90 116 3946 5341 17093)											0							SO:0001587	stop_gained			ENST00000374708.4	0	1	hg19	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	42	9.337532	0.99142	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	.	.	.	4.88	3.11	0.35812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8654	0.24091	0.2806:0.0:0.7194:0.0	.	.	.	.	X	630;716;695;690;669;656;635;609	.	ENSP00000339915:Y716X	Y	-	3	2	COL11A2	33252209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.868000	0.39509	0.675000	0.31264	0.549000	0.68633	TAC		TCGA-IB-7651-01A-11D-2154-08	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2	1	0	1	34	126	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	33	123	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL11A2	1302	broad.mit.edu	37	6	33145207	33145207	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33145207C>A	ENST00000374708.4	-	21	1953	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	COL11A2_ENST00000341947.2_Missense_Mutation_p.Q651H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2			68					CAGGGGTGCCCTGTTGTCCAG	0.567000													Melanoma(1;90 116 3946 5341 17093)											0							SO:0001583	missense			ENST00000374708.4	1	1	hg19	CCDS43452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.571584|3.571584	0.65765|0.65765	.|.	.|.	ENSG00000204248|ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917|ENST00000395196	D;D;D;D;D;D;D;D|.	0.95885|.	-3.41;-3.84;-3.84;-3.84;-3.84;-3.41;-3.84;-3.41|.	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60143|0.60143	0.2246|0.2246	L|L	0.45470|0.45470	1.425|1.425	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|D	0.89917|0.76494	1.0;0.996;0.997|0.999	D;D;D|D	0.91635|0.65573	0.999;0.996;0.981|0.936	T|T	0.65265|0.65265	-0.6210|-0.6210	10|8	0.72032|0.72032	D|D	0.01|0.01	.|.	13.8013|13.8013	0.63202|0.63202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	544;565;651|57	P13942-8;P13942-6;P13942|A2ABA7	.;.;COBA2_HUMAN|.	H|M	565;651;630;625;604;591;570;544|31	ENSP00000363840:Q565H;ENSP00000339915:Q651H;ENSP00000350079:Q630H;ENSP00000363846:Q625H;ENSP00000363845:Q604H;ENSP00000378623:Q591H;ENSP00000363844:Q570H;ENSP00000355123:Q544H|.	ENSP00000339915:Q651H|ENSP00000378622:R31M	Q|R	-|-	3|2	2|0	COL11A2|COL11A2	33253185|33253185	0.651000|0.651000	0.27340|0.27340	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.110000|-0.110000	0.10824|0.10824	2.113000|2.113000	0.64589|0.64589	0.579000|0.579000	0.79373|0.79373	CAG|AGG		TCGA-IB-7651-01A-11D-2154-08	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2	1	0	1	44	164	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	44	158	0	47	2								-3.467591	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC39A7	7922	broad.mit.edu	37	6	33169572	33169572	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33169572C>T	ENST00000374677.3	+	2	835	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.F154F|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7			18					TTGTCCTCTTCCTTATCCCCG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000374677.3	1	1	hg19	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748232	0.15710	.	.	ENSG00000112473	ENST00000445037	.	.	.	4.84	0.998	0.19857	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10154	-1.0642	5	0.21014	T	0.42	-17.2381	8.5856	0.33655	0.0:0.6571:0.0:0.3429	.	.	.	.	S	60	.	ENSP00000416844:P60S	P	+	1	0	SLC39A7	33277550	0.997000	0.39634	1.000000	0.80357	0.924000	0.55760	0.472000	0.22116	0.272000	0.22027	-0.284000	0.09977	CCT		TCGA-IB-7651-01A-11D-2154-08	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	1	0	1	72	342	0	94	1	1	183	363	0	94	2		0	0	0	0	0	2	1	1	70	337	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC39A7	7922	broad.mit.edu	37	6	33170375	33170375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33170375G>T	ENST00000374677.3	+	5	1211	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7			18					AGAGGAAGAAGAAAAGGAAAC	0.502000																								0							SO:0001587	stop_gained			ENST00000374677.3	0	1	hg19	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313466	0.95655	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	.	.	.	4.26	4.26	0.50523	.	0.350125	0.26383	N	0.024686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	3.3686	12.0355	0.53423	0.0:0.0:1.0:0.0	.	.	.	.	X	190;280;261;185;280	.	ENSP00000363807:E280X	E	+	1	0	SLC39A7	33278353	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.859000	0.69539	2.209000	0.71365	0.549000	0.68633	GAA		TCGA-IB-7651-01A-11D-2154-08	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	1	0	0	64	236	0	57	1	1	15	860	0	57	2		0	0	0	0	0	2	1	1	61	231	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RING1	6015	broad.mit.edu	37	6	33179292	33179292	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179292G>A	ENST00000374656.4	+	5	1021	c.813G>A	c.(811-813)ctG>ctA	p.L271L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1			17					CCCACCCCCTGCTCGTGGAGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000374656.4	1	1	hg19	CCDS34424.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2	1	0	0	46	184	0	34	1	1	40	87	0	34	2		0	0	0	0	0	2	1	1	45	179	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RING1	6015	broad.mit.edu	37	6	33179615	33179615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179615C>T	ENST00000374656.4	+	6	1163	c.955C>T	c.(955-957)Cct>Tct	p.P319S	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1			17					GCCAGGAGGGCCTGGAGGGGG	0.672000																								0							SO:0001583	missense			ENST00000374656.4	1	1	hg19	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465674	0.43839	.	.	ENSG00000204227	ENST00000374656	D	0.83163	-1.69	4.19	3.32	0.38043	.	0.365598	0.20926	N	0.083198	T	0.41926	0.1180	N	0.08118	0	0.30485	N	0.771968	B	0.18310	0.027	B	0.17098	0.017	T	0.15636	-1.0430	10	0.14252	T	0.57	-6.4677	7.6128	0.28139	0.0:0.8838:0.0:0.1162	.	319	Q06587	RING1_HUMAN	S	319	ENSP00000363787:P319S	ENSP00000363787:P319S	P	+	1	0	RING1	33287593	0.995000	0.38212	1.000000	0.80357	0.891000	0.51852	2.150000	0.42254	0.958000	0.37956	0.448000	0.29417	CCT		TCGA-IB-7651-01A-11D-2154-08	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2	0	0	0	55	286	0	66	1	1	25	109	0	66	2		0	0	0	0	0	2	1	1	53	275	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS52	6293	broad.mit.edu	37	6	33218738	33218738	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33218738G>T	ENST00000445902.2	-	20	2270	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L	HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000422366.1_RNA|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)			28					AGCGATGATAGAGCTGGATCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000445902.2	1	1	hg19	CCDS4770.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	1	0	0	18	384	0	61	1	9.901632e-01	14	147	0	61	2		0	0	0	0	0	2	1	9.999807e-01	18	378	0	59	2								-3.238434	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.520000	0.320000	0.780000	0.520000	0.539549	0.520000	0	4.100000e-01	6.500000e-01
B3GALT4	8705	broad.mit.edu	37	6	33245202	33245202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245202G>A	ENST00000451237.1	+	1	286	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4			13					GCACCATGCAGCTCAGGCTCT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000451237.1	1	1	hg19	CCDS34425.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2	1	0	1	118	519	0	96	1	9.967301e-01	13	27	0	96	2		0	0	0	0	0	2	1	1	117	511	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
B3GALT4	8705	broad.mit.edu	37	6	33245950	33245950	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245950C>T	ENST00000451237.1	+	1	1034	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4			13					GGAGCAGTGGCCTCACACCTG	0.657000																								0							SO:0001583	missense			ENST00000451237.1	1	1	hg19	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229448	0.58777	.	.	ENSG00000235863	ENST00000451237	T	0.55234	0.53	4.49	4.49	0.54785	.	0.155147	0.42548	D	0.000681	T	0.39172	0.1068	L	0.58969	1.84	0.37649	D	0.922334	P	0.47677	0.899	P	0.45998	0.5	T	0.45220	-0.9276	10	0.49607	T	0.09	.	8.3233	0.32142	0.0:0.8953:0.0:0.1047	.	252	O96024	B3GT4_HUMAN	S	252	ENSP00000390784:P252S	ENSP00000390784:P252S	P	+	1	0	B3GALT4	33353928	0.998000	0.40836	0.998000	0.56505	0.918000	0.54935	2.563000	0.45922	2.334000	0.79466	0.643000	0.83706	CCT		TCGA-IB-7651-01A-11D-2154-08	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2	1	0	1	96	346	0	64	1	9.999998e-01	27	55	0	64	2		0	0	0	0	0	2	1	1	96	337	0	64	2								-20.000000	1	1	121412	1	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR46	9277	broad.mit.edu	37	6	33247071	33247071	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33247071C>A	ENST00000374617.4	-	15	2171	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46			20					CAAATCTGTCCAGGGCAGATG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000374617.4	1	1	hg19	CCDS4772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	0	0	0	26	821	0	185	1	9.454926e-01	12	142	0	185	2		0	0	0	0	0	2	1	9.999999e-01	26	808	0	182	2								-2.883282	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.350000	0.230000	0.500000	0.350000	0.367401	0.350000	0	2.900000e-01	4.300000e-01
WDR46	9277	broad.mit.edu	37	6	33256731	33256731	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33256731C>T	ENST00000374617.4	-	2	485	c.129G>A	c.(127-129)ggG>ggA	p.G43G	PFDN6_ENST00000374607.1_5'Flank|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000395131.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374606.5_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46			20					TACGAGGAGGCCCTGGAGAGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000374617.4	0	1	hg19	CCDS4772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	0	0	0	8	432	0	76	1	8.611412e-01	4	190	0	76	2		0	0	0	0	0	2	1	9.886899e-01	8	424	0	75	2								-3.357967	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.210000	0.100000	0.390000	0.210000	0.233885	0.210000	0	1.500000e-01	3.100000e-01
RGL2	5863	broad.mit.edu	37	6	33259941	33259941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33259941C>A	ENST00000497454.1	-	18	2767	c.2272G>T	c.(2272-2274)Gga>Tga	p.G758*	WDR46_ENST00000374617.4_5'Flank|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000477718.1_5'Flank	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2			34					GAGCCCCCTCCTCCCTCACTC	0.602000																								0							SO:0001587	stop_gained			ENST00000497454.1	0	1	hg19	CCDS4774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.777970|9.777970	0.99261|0.99261	.|.	.|.	ENSG00000237441|ENSG00000237441	ENST00000421215|ENST00000497454	.|.	.|.	.|.	5.64|5.64	3.85|3.85	0.44370|0.44370	.|.	.|0.307620	.|0.31020	.|N	.|0.008409	T|.	0.33147|.	0.0853|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12785|.	-1.0534|.	5|.	0.52906|0.18276	T|T	0.07|0.48	.|.	8.0045|8.0045	0.30317|0.30317	0.0:0.7551:0.1598:0.0851|0.0:0.7551:0.1598:0.0851	.|.	.|.	.|.	.|.	D|X	620|758	.|.	ENSP00000400083:E620D|ENSP00000420211:G758X	E|G	-|-	3|1	2|0	RGL2|RGL2	33367919|33367919	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	0.970000|0.970000	0.29383|0.29383	0.730000|0.730000	0.32425|0.32425	0.643000|0.643000	0.83706|0.83706	GAG|GGA		TCGA-IB-7651-01A-11D-2154-08	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2	0	0	0	13	350	0	67	1	9.361622e-01	4	125	0	67	2		0	0	0	0	0	2	1	9.995381e-01	13	348	0	66	2								-3.244220	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.420000	0.230000	0.670000	0.410000	0.439444	0.420000	0	3.200000e-01	5.500000e-01
TAPBP	6892	broad.mit.edu	37	6	33272389	33272389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33272389C>T	ENST00000489157.1	-	4	846	c.634G>A	c.(634-636)Gca>Aca	p.A212T	TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000434618.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T			O15533	TPSN_HUMAN	TAP binding protein (tapasin)			18					GCAAGGGTTGCTGGCATCAGG	0.592000																								0							SO:0001583	missense			ENST00000489157.1	1	1	hg19	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776151	0.31411	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.19	2.15	0.27550	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.444281	0.24513	N	0.037872	T	0.05731	0.0150	L	0.53249	1.67	0.31031	N	0.717382	P;P;P;P;B	0.45212	0.476;0.853;0.799;0.476;0.345	B;B;B;B;B	0.34138	0.045;0.176;0.162;0.031;0.02	T	0.19224	-1.0312	10	0.40728	T	0.16	-2.9447	10.6851	0.45837	0.5381:0.4618:0.0:0.0	.	299;212;317;299;299	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	T	299;317;212;299;299;299	ENSP00000395701:A299T;ENSP00000417949:A317T;ENSP00000419659:A212T;ENSP00000404833:A299T;ENSP00000387803:A299T	ENSP00000404833:A299T	A	-	1	0	TAPBP	33380367	0.290000	0.24343	0.875000	0.34327	0.272000	0.26649	0.443000	0.21644	0.737000	0.32582	-0.335000	0.08231	GCA		TCGA-IB-7651-01A-11D-2154-08	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2	0	0	0	11	280	0	54	1	9.999770e-01	21	530	0	54	2		0	0	0	0	0	2	1	9.982585e-01	11	275	0	54	2								-2.951661	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.440000	0.230000	0.730000	0.430000	0.467500	0.440000	0	3.300000e-01	5.900000e-01
ZBTB22	9278	broad.mit.edu	37	6	33284326	33284326	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284326T>C	ENST00000431845.2	-	2	519	c.368A>G	c.(367-369)gAc>gGc	p.D123G	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22			21					GTTGACAATGTCAGCAGCAGC	0.582000																								0							SO:0001583	missense			ENST00000431845.2	1	1	hg19	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611789	0.66558	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.68765	-0.35;-0.35;-0.35	4.44	4.44	0.53790	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.35585	N	0.003104	T	0.71039	0.3293	L	0.59967	1.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.74601	-0.3611	10	0.59425	D	0.04	.	11.7181	0.51666	0.0:0.0:0.0:1.0	.	123	O15209	ZBT22_HUMAN	G	123	ENSP00000404403:D123G;ENSP00000407545:D123G;ENSP00000413172:D123G	ENSP00000404403:D123G	D	-	2	0	ZBTB22	33392304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	1.870000	0.54199	0.450000	0.29827	GAC		TCGA-IB-7651-01A-11D-2154-08	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2	1	0	1	155	676	0	149	1	9.998769e-01	13	45	0	149	2		0	0	0	0	0	2	1	1	150	661	0	147	2								-20.000000	1	1	121412	1	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBTB22	9278	broad.mit.edu	37	6	33284660	33284660	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284660C>A	ENST00000431845.2	-	2	185	c.34G>T	c.(34-36)Gca>Tca	p.A12S	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22			21					AGGGGAAGTGCTGCCCCACTG	0.652000																								0							SO:0001583	missense			ENST00000431845.2	1	1	hg19	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092534	0.20471	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.64438	3.4;3.4;-0.1	4.72	2.81	0.32909	.	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.22728	N	0.998807	B	0.30793	0.295	B	0.28553	0.091	T	0.06935	-1.0799	9	0.40728	T	0.16	.	5.9203	0.19078	0.0:0.6968:0.1944:0.1088	.	12	O15209	ZBT22_HUMAN	S	12	ENSP00000404403:A12S;ENSP00000407545:A12S;ENSP00000413172:A12S	ENSP00000404403:A12S	A	-	1	0	ZBTB22	33392638	0.605000	0.26941	1.000000	0.80357	0.974000	0.67602	0.552000	0.23376	1.187000	0.43000	0.643000	0.83706	GCA		TCGA-IB-7651-01A-11D-2154-08	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2	1	0	0	12	169	0	30	1	3.148817e-01	2	14	0	30	2		0	0	0	0	0	2	1	9.991019e-01	12	165	0	29	2								-16.225560	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.770000	0.430000	1.000000	1.000000	0.778092	0.770000	0	5.800000e-01	1
DAXX	1616	broad.mit.edu	37	6	33287473	33287473	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33287473T>C	ENST00000374542.5	-	6	1828	c.1624A>G	c.(1624-1626)Agc>Ggc	p.S542G	ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.S467G|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.S542G|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein			55					GCATCTATGCTGGAGGGGGCC	0.522000			Mis, F, N		Pancreatic neuroendocrine tumors. Paediatric GBM										Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0							SO:0001583	missense			ENST00000374542.5	1	1	hg19	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387050	0.42308	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.36	0.3	0.15776	.	0.827161	0.11195	N	0.589489	T	0.14787	0.0357	L	0.57536	1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.24621	-1.0155	9	0.36615	T	0.2	-4.1006	2.8037	0.05421	0.1873:0.2111:0.0:0.6016	.	554;542	B4E1C1;Q9UER7	.;DAXX_HUMAN	G	542;542;467	.	ENSP00000266000:S542G	S	-	1	0	DAXX	33395451	0.014000	0.17966	0.001000	0.08648	0.811000	0.45836	0.142000	0.16096	0.308000	0.22923	0.448000	0.29417	AGC		TCGA-IB-7651-01A-11D-2154-08	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1	1	0	1	84	399	0	108	1	1	70	175	0	108	2		0	0	0	0	0	2	1	1	81	391	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAXX	1616	broad.mit.edu	37	6	33288663	33288663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288663C>A	ENST00000374542.5	-	3	1093	c.889G>T	c.(889-891)Gct>Tct	p.A297S	DAXX_ENST00000414083.2_Missense_Mutation_p.A222S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.A297S|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	p.A297P(1)		55					TGTCGGGCAGCTGCCTTCTCT	0.597000			Mis, F, N		Pancreatic neuroendocrine tumors. Paediatric GBM										Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000374542.5	1	1	hg19	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116827	0.37339	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	3.79	0.43588	.	0.109437	0.64402	D	0.000010	T	0.36166	0.0957	L	0.50919	1.6	0.33157	D	0.546452	P;D;D	0.58268	0.738;0.982;0.982	B;P;P	0.60117	0.441;0.869;0.869	T	0.24476	-1.0159	9	0.21540	T	0.41	-9.2936	5.725	0.18008	0.1955:0.7078:0.0:0.0968	.	309;297;297	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	S	297;297;222	.	ENSP00000266000:A297S	A	-	1	0	DAXX	33396641	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.756000	0.55205	1.186000	0.42985	0.643000	0.83706	GCT		TCGA-IB-7651-01A-11D-2154-08	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1	1	0	1	104	397	0	82	1	1	44	142	0	82	2		0	0	0	0	0	2	1	1	101	391	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAXX	1616	broad.mit.edu	37	6	33288802	33288802	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288802G>A	ENST00000374542.5	-	3	954	c.750C>T	c.(748-750)ggC>ggT	p.G250G	DAXX_ENST00000414083.2_Silent_p.G175G|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Silent_p.G250G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein			55					CTATGACACGGCCGGTCAGTG	0.587000			Mis, F, N		Pancreatic neuroendocrine tumors. Paediatric GBM										Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0							SO:0001819	synonymous_variant			ENST00000374542.5	1	1	hg19	CCDS4776.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1	1	0	1	71	343	0	89	1	1	33	136	0	89	2		0	0	0	0	0	2	1	1	71	337	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF1	5252	broad.mit.edu	37	6	33382062	33382062	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382062C>T	ENST00000374516.3	+	9	1066	c.795C>T	c.(793-795)tgC>tgT	p.C265C	PHF1_ENST00000374512.3_Silent_p.C265C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1			19		Ovarian(999;0.0443)			TCAGTGTTTGCTGTAAGAAGA	0.468000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000374516.3	1	1	hg19	CCDS4777.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3	0	0	1	83	387	1	90	1	9.999995e-01	53	150	1	90	10		0	0	0	0	0	2	1	1	81	376	1	90	17								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF1	5252	broad.mit.edu	37	6	33382914	33382914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382914C>T	ENST00000374516.3	+	12	1503	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_Silent_p.G407G	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1			19		Ovarian(999;0.0443)			CTGCAGAGGGCACTGCAGGTA	0.622000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000374516.3	0	1	hg19	CCDS4777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.126797|2.126797	0.37533|0.37533	.|.	.|.	ENSG00000112511|ENSG00000112511	ENST00000374516|ENST00000427826	T|.	0.23950|.	1.88|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.24275|0.24275	0.0588|0.0588	N|N	0.14661|0.14661	0.345|0.345	0.33422|0.33422	D|D	0.580049|0.580049	D|.	0.57571|.	0.98|.	P|.	0.53988|.	0.739|.	T|T	0.14172|0.14172	-1.0482|-1.0482	10|6	0.15952|0.35671	T|T	0.53|0.21	-7.56|-7.56	13.3671|13.3671	0.60692|0.60692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411|.	O43189|.	PHF1_HUMAN|.	V|Y	411|25	ENSP00000363640:A411V|.	ENSP00000363640:A411V|ENSP00000404788:H25Y	A|H	+|+	2|1	0|0	PHF1|PHF1	33490892|33490892	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.765000|3.765000	0.55272|0.55272	2.537000|2.537000	0.85549|0.85549	0.462000|0.462000	0.41574|0.41574	GCA|CAC		TCGA-IB-7651-01A-11D-2154-08	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3	0	0	0	65	348	0	79	1	1	51	161	0	79	2		0	0	0	0	0	2	1	1	63	335	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNGAP1	8831	broad.mit.edu	37	6	33399973	33399973	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33399973C>A	ENST00000418600.2	+	4	432	c.331C>A	c.(331-333)Cca>Aca	p.P111T	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1			43					GAAGAGTGTCCCAGGGGGGAA	0.637000																								0							SO:0001583	missense			ENST00000418600.2	1	1	hg19	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022972	0.35701	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17528	2.27;2.36;2.36	4.49	2.68	0.31781	Pleckstrin homology domain (1);	1.042200	0.07610	N	0.925251	T	0.06325	0.0163	L	0.52573	1.65	0.30470	N	0.773439	B;P;B	0.36535	0.421;0.557;0.016	B;B;B	0.29785	0.05;0.107;0.017	T	0.30238	-0.9985	10	0.87932	D	0	.	8.0326	0.30474	0.0:0.7472:0.1608:0.092	.	111;111;111	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	T	111;111;111;52	ENSP00000293748:P111T;ENSP00000403636:P111T;ENSP00000412475:P52T	ENSP00000293748:P111T	P	+	1	0	SYNGAP1	33507951	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.648000	0.54410	0.440000	0.26502	0.467000	0.42956	CCA		TCGA-IB-7651-01A-11D-2154-08	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	1	0	1	30	201	0	44	0	7.765950e-01	1	20	0	44	2		0	0	0	0	0	2	1	1	30	199	0	44	2								-3.320188	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999078	0.990000	1	9.900000e-01	1
ZBTB9	221504	broad.mit.edu	37	6	33423403	33423403	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33423403T>G	ENST00000395064.2	+	2	794	c.526T>G	c.(526-528)Ttc>Gtc	p.F176V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9			11					CTCTTCGCCTTTCCAGACCCC	0.542000																								0							SO:0001583	missense			ENST00000395064.2	1	1	hg19	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	T	6.850	0.526113	0.13066	.	.	ENSG00000213588	ENST00000395064	T	0.05580	3.42	4.88	3.67	0.42095	.	0.657953	0.11979	U	0.510993	T	0.01835	0.0058	L	0.29908	0.895	0.28623	N	0.908056	B	0.23650	0.089	B	0.21546	0.035	T	0.43097	-0.9412	10	0.28530	T	0.3	.	9.0034	0.36097	0.0:0.0911:0.0:0.9089	.	176	Q96C00	ZBTB9_HUMAN	V	176	ENSP00000378503:F176V	ENSP00000378503:F176V	F	+	1	0	ZBTB9	33531381	0.970000	0.33590	1.000000	0.80357	0.920000	0.55202	0.733000	0.26087	2.051000	0.60960	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	0	0	0	16	659	0	151	0	2.568932e-01	0	39	0	151	2		0	0	0	0	0	2	1	9.999244e-01	15	650	0	149	2								-12.787680	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.270000	0.160000	0.430000	0.280000	0.289639	0.270000	0	2.100000e-01	3.600000e-01
BAK1	578	broad.mit.edu	37	6	33541918	33541918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33541918C>T	ENST00000374467.3	-	5	672	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	BAK1_ENST00000442998.2_Silent_p.T148T|BAK1_ENST00000360661.5_Missense_Mutation_p.V142I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1			4					TGCTGGTAGACGTGTAGGGCC	0.597000																								0							SO:0001583	missense			ENST00000374467.3	1	1	hg19	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881671	0.17467	0.0	1.16E-4	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000360661	T;T	0.11169	2.8;2.8	4.75	1.88	0.25563	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.205916	0.32736	N	0.005701	T	0.03095	0.0091	L	0.45228	1.405	0.80722	D	1	B	0.16166	0.016	B	0.24974	0.057	T	0.32693	-0.9897	10	0.18276	T	0.48	-26.5385	8.2542	0.31746	0.0:0.721:0.0:0.279	.	142	Q16611	BAK_HUMAN	I	122;142;142	ENSP00000363591:V142I;ENSP00000353878:V142I	ENSP00000353878:V142I	V	-	1	0	BAK1	33649896	0.994000	0.37717	0.259000	0.24435	0.351000	0.29236	2.813000	0.48002	0.194000	0.20326	0.485000	0.47835	GTC		TCGA-IB-7651-01A-11D-2154-08	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	1	0	1	62	263	0	60	1	1	106	176	0	60	2		0	0	0	0	0	2	1	1	61	257	0	57	2								-3.763989	1	1	121410	8	42	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAK1	578	broad.mit.edu	37	6	33543127	33543127	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33543127G>A	ENST00000374467.3	-	4	546	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	BAK1_ENST00000442998.2_Silent_p.L100L|BAK1_ENST00000360661.5_Silent_p.L100L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1			4					GTGGGCTGCAGGTGCTGCAAC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000374467.3	1	1	hg19	CCDS4781.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	1	0	1	69	305	0	65	1	1	51	170	0	65	2		0	0	0	0	0	2	1	1	67	297	0	66	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPR3	3710	broad.mit.edu	37	6	33626894	33626894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33626894G>T	ENST00000374316.5	+	7	1685	c.625G>T	c.(625-627)Gag>Tag	p.E209*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E209*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	CGGCTGCAAGGAGGTGAGGGG	0.642000																								0							SO:0001587	stop_gained			ENST00000374316.5	0	1	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	44	11.245118	0.99536	.	.	ENSG00000096433	ENST00000374316	.	.	.	4.68	4.68	0.58851	.	0.055402	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.5481	17.7866	0.88540	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000363435:E209X	E	+	1	0	ITPR3	33734872	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.561000	0.98142	2.434000	0.82447	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	0	0	0	17	370	0	63	0	9.424202e-01	0	107	0	63	2	1	1	42	1094	0	1139	2	1	9.999573e-01	16	359	0	63	2								-17.787700	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.510000	0.310000	0.770000	0.500000	0.530591	0.510000	0	4.000000e-01	6.500000e-01
ITPR3	3710	broad.mit.edu	37	6	33630418	33630418	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33630418G>A	ENST00000374316.5	+	9	1885	c.825G>A	c.(823-825)tcG>tcA	p.S275S	ITPR3_ENST00000605930.1_Silent_p.S275S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	CTGCCACCTCGGCCACCAGCT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000374316.5	1	1	hg19	CCDS4783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1	32	166	0	44	1	9.999838e-01	40	53	0	44	2	1	1	234	937	0	1039	2	1	1	32	160	0	44	2								-3.265490	1	1	121412	17	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
ITPR3	3710	broad.mit.edu	37	6	33633694	33633694	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33633694G>T	ENST00000374316.5	+	15	2552	c.1492G>T	c.(1492-1494)Gtc>Ttc	p.V498F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	GGACATCATGGTCACTAAGCC	0.592000																								0							SO:0001583	missense			ENST00000374316.5	1	1	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112780	0.56398	.	.	ENSG00000096433	ENST00000374316	D	0.95518	-3.73	5.64	5.64	0.86602	Intracellular calcium-release channel (1);	0.053328	0.85682	D	0.000000	D	0.93726	0.7995	L	0.49350	1.555	0.46981	D	0.999279	P	0.45827	0.867	P	0.50136	0.632	D	0.93023	0.6442	10	0.40728	T	0.16	-49.3902	13.9283	0.63978	0.0726:0.0:0.9274:0.0	.	498	Q14573	ITPR3_HUMAN	F	498	ENSP00000363435:V498F	ENSP00000363435:V498F	V	+	1	0	ITPR3	33741672	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.547000	0.60712	2.654000	0.90174	0.563000	0.77884	GTC		TCGA-IB-7651-01A-11D-2154-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1	29	140	0	28	1	9.999995e-01	54	66	0	28	2	1	1	230	1136	0	1288	2	1	1	29	137	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
ITPR3	3710	broad.mit.edu	37	6	33634963	33634963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33634963C>T	ENST00000374316.5	+	16	2669	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	TCCCCTGGTGCGGCTGGAGGA	0.602000																								0							SO:0001583	missense			ENST00000374316.5	1	1	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768538	0.69878	.	.	ENSG00000096433	ENST00000374316	D	0.90004	-2.6	4.51	3.48	0.39840	Intracellular calcium-release channel (1);	0.066556	0.56097	D	0.000023	D	0.93070	0.7794	M	0.80982	2.52	0.40864	D	0.983853	D	0.76494	0.999	D	0.73380	0.98	D	0.93942	0.7224	10	0.87932	D	0	-33.5454	14.6107	0.68514	0.2219:0.7781:0.0:0.0	.	537	Q14573	ITPR3_HUMAN	W	537	ENSP00000363435:R537W	ENSP00000363435:R537W	R	+	1	2	ITPR3	33742941	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	1.483000	0.35497	2.222000	0.72286	0.462000	0.41574	CGG		TCGA-IB-7651-01A-11D-2154-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1	74	377	0	114	1	9.999878e-01	37	48	0	114	2	1	1	268	1206	0	1493	2	1	1	72	370	0	110	2								-2.933443	1	1	121412	2	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPR3	3710	broad.mit.edu	37	6	33647765	33647765	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33647765G>T	ENST00000374316.5	+	32	5139	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1360I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	GAGGACCACAGCCCCCTCATG	0.602000																								0							SO:0001583	missense			ENST00000374316.5	0	1	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280461	0.95489	.	.	ENSG00000096433	ENST00000374316	D	0.92699	-3.09	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.70595	2.14	0.80722	D	1	D	0.61697	0.99	P	0.53593	0.73	D	0.94062	0.7327	10	0.87932	D	0	-36.6971	18.1454	0.89653	0.0:0.0:1.0:0.0	.	1360	Q14573	ITPR3_HUMAN	I	1360	ENSP00000363435:S1360I	ENSP00000363435:S1360I	S	+	2	0	ITPR3	33755743	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.624000	0.74243	2.357000	0.79964	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	0	0	0	9	242	0	39	1	9.278081e-01	10	116	0	39	2	1	1	74	1562	0	1537	2	1	9.940337e-01	8	239	0	38	2								-3.431139	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.420000	0.210000	0.730000	0.410000	0.449845	0.420000	0	3.000000e-01	5.800000e-01
ITPR3	3710	broad.mit.edu	37	6	33652166	33652166	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33652166C>T	ENST00000374316.5	+	38	6030	c.4970C>T	c.(4969-4971)tCg>tTg	p.S1657L	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	CTCATGGAGTCGGAGGAGAAG	0.637000																								0							SO:0001583	missense			ENST00000374316.5	1	1	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392363	0.62066	.	.	ENSG00000096433	ENST00000374316	D	0.91894	-2.93	5.31	5.31	0.75309	.	0.273852	0.37437	N	0.002098	T	0.82245	0.4995	L	0.36672	1.1	0.39997	D	0.975114	B	0.31949	0.348	B	0.24541	0.054	D	0.84365	0.0540	10	0.56958	D	0.05	-11.7663	13.8974	0.63781	0.1523:0.8477:0.0:0.0	.	1657	Q14573	ITPR3_HUMAN	L	1657	ENSP00000363435:S1657L	ENSP00000363435:S1657L	S	+	2	0	ITPR3	33760144	0.961000	0.32948	0.967000	0.41034	0.985000	0.73830	3.599000	0.54045	2.475000	0.83589	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1	37	165	0	54	1	1	62	84	0	54	2	1	1	235	962	1	1017	7	1	1	36	162	0	52	2								-3.375299	1	1	121410	2	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ITPR3	3710	broad.mit.edu	37	6	33656032	33656032	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33656032G>A	ENST00000374316.5	+	49	7452	c.6392G>A	c.(6391-6393)cGc>cAc	p.R2131H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	CGGCAGGACCGCAGCATGGAG	0.652000																								0							SO:0001583	missense			ENST00000374316.5	1	1	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562243	0.96527	.	.	ENSG00000096433	ENST00000374316	D	0.92545	-3.06	5.53	5.53	0.82687	.	0.115345	0.64402	D	0.000010	D	0.94915	0.8356	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.67725	0.953;0.656	D	0.94548	0.7751	10	0.56958	D	0.05	-27.8597	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2131;1801	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2131	ENSP00000363435:R2131H	ENSP00000363435:R2131H	R	+	2	0	ITPR3	33764010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.854000	0.99522	2.594000	0.87642	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	0	0	1	87	454	0	95	1	1	84	123	0	95	2	1	1	214	773	3	930	10	1	1	86	447	0	95	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITPR3	3710	broad.mit.edu	37	6	33663516	33663516	+	Missense_Mutation	SNP	C	C	T	rs138851075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33663516C>T	ENST00000374316.5	+	59	9035	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C|MIR3934_ENST00000579806.1_RNA|SBP1_ENST00000594414.1_5'Flank			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	ACGCAGGCAACGCCTAGGCTT	0.602000																								0							SO:0001583	missense			ENST00000374316.5	1	1	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111247	0.77210	2.27E-4	0.0	ENSG00000096433	ENST00000374316	D	0.95980	-3.87	5.43	3.49	0.39957	.	0.106304	0.64402	D	0.000015	D	0.97340	0.9130	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97884	1.0293	10	0.87932	D	0	-29.3951	12.1209	0.53891	0.5423:0.4577:0.0:0.0	.	2659	Q14573	ITPR3_HUMAN	C	2659	ENSP00000363435:R2659C	ENSP00000363435:R2659C	R	+	1	0	ITPR3	33771494	0.594000	0.26849	0.820000	0.32676	0.980000	0.70556	1.012000	0.29924	1.268000	0.44264	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	1	0	1	110	492	0	125	1	1	150	185	0	125	2	1	1	207	1022	0	1096	2	1	1	109	486	0	125	2								-20.000000	1	0	121410	5	41	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LEMD2	221496	broad.mit.edu	37	6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2			9					TATGGATAGCGCTCCATGTCC	0.617000																								0							SO:0001583	missense			ENST00000293760.5	1	1	hg19	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.626849|4.626849	0.87560|0.87560	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000506578;ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Inner nuclear membrane protein MAN1 (1);	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.96	T|T	0.59467|0.59467	-0.7449|-0.7449	5|9	.|0.37606	.|T	.|0.19	-4.7724|-4.7724	13.0204|13.0204	0.58784|0.58784	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|435;396	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	V|C	82|18;435;133	.|.	.|ENSP00000293760:R435C	A|R	-|-	2|1	0|0	LEMD2|LEMD2	33852767|33852767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.154000|6.154000	0.71826|0.71826	2.653000|2.653000	0.90120|0.90120	0.563000|0.563000	0.77884|0.77884	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	1	0	1	77	281	0	80	1	1	47	165	0	80	2		0	0	0	0	0	2	1	1	77	277	0	80	2								-20.000000	1	0	121412	1	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LEMD2	221496	broad.mit.edu	37	6	33744826	33744826	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744826G>T	ENST00000293760.5	-	8	1285	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V	LEMD2_ENST00000508327.1_Silent_p.V120V|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2			9					AATGGTCCTGGACCACGTCTG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000293760.5	1	1	hg19	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	G	9.815	1.184209	0.21870	.	.	ENSG00000161904	ENST00000504692	.	.	.	5.66	-1.11	0.09840	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	-11.3519	2.9184	0.05760	0.1335:0.3101:0.3499:0.2065	.	.	.	.	T	70	.	.	P	-	1	0	LEMD2	33852804	0.987000	0.35691	1.000000	0.80357	0.958000	0.62258	0.071000	0.14594	0.277000	0.22141	-0.302000	0.09304	CCA		TCGA-IB-7651-01A-11D-2154-08	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	1	0	1	39	448	0	96	1	9.999852e-01	28	163	0	96	2		0	0	0	0	0	2	1	1	39	444	0	94	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.920000	0.670000	1.000000	1.000000	0.907831	0.920000	1	7.900000e-01	1
LEMD2	221496	broad.mit.edu	37	6	33746091	33746091	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33746091G>A	ENST00000293760.5	-	6	1103	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2			9					ACACCCATGCGGGGGTGGGCA	0.587000																								0							SO:0001583	missense			ENST00000293760.5	1	1	hg19	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.891482|3.891482	0.72524|0.72524	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000504692|ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|Inner nuclear membrane protein MAN1 (1);	.|0.215049	.|0.33327	.|N	.|0.005036	T|T	0.66015|0.66015	0.2747|0.2747	L|L	0.47716|0.47716	1.5|1.5	0.44539|0.44539	D|D	0.997496|0.997496	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.73380	.|0.98;0.877	T|T	0.69562|0.69562	-0.5112|-0.5112	6|9	0.87932|0.51188	D|T	0|0.08	-5.1228|-5.1228	15.8448|15.8448	0.78879|0.78879	0.0:0.0:0.8631:0.1369|0.0:0.0:0.8631:0.1369	.|.	.|362;323	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	L|C	9|362;60	.|.	ENSP00000421112:P9L|ENSP00000293760:R362C	P|R	-|-	2|1	0|0	LEMD2|LEMD2	33854069|33854069	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.978000|0.978000	0.69477|0.69477	4.571000|4.571000	0.60879|0.60879	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	CCG|CGC		TCGA-IB-7651-01A-11D-2154-08	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	1	0	1	108	408	0	87	1	1	82	198	0	87	2		0	0	0	0	0	2	1	1	107	401	0	86	2								-2.960946	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LEMD2	221496	broad.mit.edu	37	6	33752178	33752178	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33752178G>A	ENST00000293760.5	-	3	823	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LEMD2_ENST00000508327.1_5'UTR|LEMD2_ENST00000502643.1_5'Flank	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2			9					GCTCCAGCAAGGCTGCCTTCT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000293760.5	1	1	hg19	CCDS4785.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	1	0	1	82	354	0	89	1	1	43	144	0	89	2		0	0	0	0	0	2	1	1	79	345	0	88	2								-3.462439	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLN	4295	broad.mit.edu	37	6	33768931	33768931	+	Missense_Mutation	SNP	G	G	A	rs140882390	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33768931G>A	ENST00000430124.2	-	2	75	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	MLN_ENST00000507738.1_Missense_Mutation_p.R4C|MLN_ENST00000266003.5_Missense_Mutation_p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin			6					ACAGCCTTACGGGATACCATC	0.577000																								0							SO:0001583	missense			ENST00000430124.2	1	1	hg19	CCDS4786.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	12.77	2.039020	0.35989	0.0	3.49E-4	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.49720	0.77;0.77;0.77	5.43	-3.03	0.05429	.	0.976877	0.08403	N	0.951111	T	0.13927	0.0337	L	0.42744	1.35	0.24797	N	0.992721	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.06405	0.001;0.002;0.002	T	0.29640	-1.0005	10	0.52906	T	0.07	-1.6005	1.2522	0.01984	0.4245:0.1104:0.2712:0.1939	.	4;4;4	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	C	4	ENSP00000388825:R4C;ENSP00000266003:R4C;ENSP00000425467:R4C	ENSP00000266003:R4C	R	-	1	0	MLN	33876909	0.003000	0.15002	0.696000	0.30242	0.777000	0.43975	-0.499000	0.06413	-0.404000	0.07610	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4	1	0	1	84	359	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	84	348	0	111	2								-2.742575	1	1	121412	211	54	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM4	2914	broad.mit.edu	37	6	33996020	33996020	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33996020G>A	ENST00000538487.2	-	10	3009	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	GRM4_ENST00000374177.3_Missense_Mutation_p.R740C|GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000609222.1_Missense_Mutation_p.R723C|GRM4_ENST00000544773.2_Missense_Mutation_p.R687C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.R856C|GRM4_ENST00000455714.2_Missense_Mutation_p.R716C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4			48					CTGCGCTTGCGCTTGGGCACG	0.602000																								0							SO:0001583	missense			ENST00000538487.2	1	1	hg19	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059421	0.93846	2.27E-4	0.0	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.2;-2.25;-2.27;-2.45;-2.29	4.18	4.18	0.49190	GPCR, family 3, C-terminal (1);	0.306877	0.30630	N	0.009217	D	0.90480	0.7018	M	0.71206	2.165	0.80722	D	1	B;D;D;D;D	0.76494	0.175;0.972;0.999;0.997;0.989	B;P;P;P;P	0.56916	0.039;0.582;0.809;0.649;0.677	D	0.89596	0.3831	10	0.37606	T	0.19	.	16.6736	0.85273	0.0:0.0:1.0:0.0	.	809;687;716;856;723	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	856;740;548;723;687;856;716	ENSP00000363296:R856C;ENSP00000363292:R740C;ENSP00000445533:R548C;ENSP00000437925:R723C;ENSP00000437730:R687C;ENSP00000440556:R856C;ENSP00000398456:R716C	ENSP00000363292:R740C	R	-	1	0	GRM4	34103998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.370000	0.73114	2.160000	0.67779	0.478000	0.44815	CGC		TCGA-IB-7651-01A-11D-2154-08	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	1	0	1	117	462	0	89	0	0	0	1	0	89	2		0	0	0	0	0	2	1	1	116	458	0	87	2								-20.000000	1	1	121412	2	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM4	2914	broad.mit.edu	37	6	34004315	34004315	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34004315G>A	ENST00000538487.2	-	9	2015	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GRM4_ENST00000374177.3_Silent_p.C408C|GRM4_ENST00000535756.1_Silent_p.C391C|GRM4_ENST00000609222.1_Silent_p.C391C|GRM4_ENST00000544773.2_Silent_p.C355C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.C524C|GRM4_ENST00000455714.2_Silent_p.C384C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4			48					CACCCGGTTGGCAGGGCAGGC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000538487.2	1	1	hg19	CCDS4787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	1	0	1	70	300	0	67	0	3.684165e-02	0	2	0	67	2		0	0	0	0	0	2	1	1	69	296	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PACSIN1	29993	broad.mit.edu	37	6	34497247	34497247	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34497247G>T	ENST00000538621.1	+	5	775	c.530G>T	c.(529-531)aGc>aTc	p.S177I	PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1			13					GAGATGAACAGCAAGACGGAG	0.562000																								0							SO:0001583	missense			ENST00000538621.1	1	1	hg19	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853724	0.51270	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.42513	0.97;2.54;0.97	3.83	3.83	0.44106	.	0.244310	0.43919	D	0.000517	T	0.32071	0.0817	M	0.69823	2.125	0.53005	D	0.999966	B	0.17852	0.024	B	0.16722	0.016	T	0.42699	-0.9436	10	0.62326	D	0.03	-11.3885	15.9069	0.79436	0.0:0.0:1.0:0.0	.	177	Q9BY11	PACN1_HUMAN	I	177;135;177;177	ENSP00000244458:S177I;ENSP00000363155:S135I;ENSP00000439639:S177I	ENSP00000244458:S177I	S	+	2	0	PACSIN1	34605225	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.590000	0.82653	2.127000	0.65507	0.557000	0.71058	AGC		TCGA-IB-7651-01A-11D-2154-08	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1	1	0	0	24	286	0	58	0	1.882339e-02	1	2	0	58	2		0	0	0	0	0	2	1	9.999997e-01	24	284	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.890000	0.590000	1.000000	1.000000	0.878615	0.890000	1	7.300000e-01	1
PACSIN1	29993	broad.mit.edu	37	6	34499506	34499506	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34499506C>T	ENST00000538621.1	+	9	1412	c.1167C>T	c.(1165-1167)cgC>cgT	p.R389R	PACSIN1_ENST00000244458.2_Silent_p.R389R|PACSIN1_ENST00000374043.2_Silent_p.R347R	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1			13					AGGGAGTGCGCGTGCGGGCAC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000538621.1	1	1	hg19	CCDS4793.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1	1	0	1	206	899	0	211	1	3.127713e-01	3	3	0	211	2		0	0	0	0	0	2	1	1	202	884	0	210	2								-20.000000	1	1	121402	1	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf106	64771	broad.mit.edu	37	6	34574651	34574651	+	Missense_Mutation	SNP	A	A	G	rs149349132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34574651A>G	ENST00000374023.3	-	4	785	c.542T>C	c.(541-543)gTg>gCg	p.V181A	C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106			10					AAGTCCACCCACCTCCACACT	0.463000																								0							SO:0001583	missense			ENST00000374023.3	1	1	hg19	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	A	9.088	1.001044	0.19121	.	.	ENSG00000196821	ENST00000374023;ENST00000374026;ENST00000374021	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	N	0.02665	-0.54	0.45477	D	0.998447	B;B	0.11235	0.002;0.004	B;B	0.13407	0.009;0.006	T	0.23619	-1.0183	9	0.11182	T	0.66	-9.5435	10.0971	0.42482	0.9248:0.0:0.0752:0.0	.	115;181	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	A	181;115;107	.	ENSP00000363133:V107A	V	-	2	0	C6orf106	34682629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.165000	0.71891	2.164000	0.68074	0.454000	0.30748	GTG		TCGA-IB-7651-01A-11D-2154-08	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	0	0	1	60	338	1	78	1	9.999972e-01	95	190	1	78	14		0	0	0	0	0	2	1	1	55	329	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DUSP22	56940	broad.mit.edu	37	6	345913	345913	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:345913G>A	ENST00000344450.5	+	5	691	c.248G>A	c.(247-249)aGc>aAc	p.S83N	DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000604971.1_De_novo_Start_OutOfFrame	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22			26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)			CGCGGTGAGAGCTGCCTTGTA	0.433000																								0							SO:0001583	missense			ENST00000344450.5	1	0	hg19	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	6.942	0.543537	0.13250	.	.	ENSG00000112679	ENST00000344450	T	0.60171	0.21	5.41	5.41	0.78517	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.219153	0.40469	N	0.001099	T	0.11836	0.0288	N	0.00605	-1.335	0.49213	D	0.999763	B;B;B	0.25850	0.0;0.025;0.136	B;B;B	0.23716	0.002;0.048;0.048	T	0.41805	-0.9488	10	0.05959	T	0.93	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	83;40;83	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	N	83	ENSP00000345281:S83N	ENSP00000345281:S83N	S	+	2	0	DUSP22	290913	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	6.583000	0.74053	2.523000	0.85059	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	1	0	1	51	364	0	46	0	9.999986e-01	0	143	0	46	2		0	0	0	0	0	2	1	1	50	356	0	46	2								-19.788910	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999714	0.990000	1	9.900000e-01	1
UHRF1BP1	54887	broad.mit.edu	37	6	34789517	34789517	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34789517G>T	ENST00000192788.5	+	2	303	c.132G>T	c.(130-132)gaG>gaT	p.E44D	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D|Y_RNA_ENST00000383990.1_RNA	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1			54					TGGATGAAGAGGTTCTACAGA	0.522000																								0							SO:0001583	missense			ENST00000192788.5	1	1	hg19	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414584	0.83449	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	D;D	0.82526	-1.62;-1.62	5.79	2.01	0.26516	.	0.059459	0.64402	D	0.000003	T	0.81791	0.4897	L	0.48642	1.525	0.50632	D	0.999881	D	0.89917	1.0	D	0.87578	0.998	T	0.81116	-0.1079	10	0.51188	T	0.08	-24.7211	10.1509	0.42794	0.3296:0.0:0.6704:0.0	.	44	Q6BDS2	URFB1_HUMAN	D	44	ENSP00000192788:E44D;ENSP00000400628:E44D	ENSP00000192788:E44D	E	+	3	2	UHRF1BP1	34897495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.503000	0.45407	0.370000	0.24538	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	1	0	0	28	300	0	61	1	4.138859e-01	2	14	0	61	2		0	0	0	0	0	2	1	1	28	297	0	61	2								-3.221884	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.980000	0.670000	1.000000	1.000000	0.932025	0.980000	1	8.200000e-01	1
UHRF1BP1	54887	broad.mit.edu	37	6	34803134	34803134	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34803134C>T	ENST00000192788.5	+	7	904	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	UHRF1BP1_ENST00000452449.2_Silent_p.L245L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1			54					GCTCTGGGTGCTGACTGACTC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000192788.5	1	1	hg19	CCDS43455.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	1	0	0	78	343	0	113	1	4.534784e-01	3	5	0	113	2		0	0	0	0	0	2	1	1	76	336	0	112	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UHRF1BP1	54887	broad.mit.edu	37	6	34824616	34824616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34824616G>T	ENST00000192788.5	+	11	1512	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q447H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1			54					GCCCCTCTCAGGGCAGACAGC	0.488000																								0							SO:0001583	missense			ENST00000192788.5	1	1	hg19	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	2.981	-0.210263	0.06140	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08807	3.05;3.05	5.93	3.06	0.35304	.	0.411838	0.25205	N	0.032357	T	0.00637	0.0021	N	0.00841	-1.15	0.28030	N	0.934187	B	0.10296	0.003	B	0.08055	0.003	T	0.48636	-0.9018	10	0.15952	T	0.53	-6.1459	5.2525	0.15529	0.0746:0.2348:0.5256:0.165	.	447	Q6BDS2	URFB1_HUMAN	H	447	ENSP00000192788:Q447H;ENSP00000400628:Q447H	ENSP00000192788:Q447H	Q	+	3	2	UHRF1BP1	34932594	0.432000	0.25554	0.998000	0.56505	0.426000	0.31534	0.775000	0.26689	1.526000	0.49068	-0.150000	0.13652	CAG		TCGA-IB-7651-01A-11D-2154-08	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	0	0	0	17	442	0	87	0	1.568240e-01	0	18	0	87	2		0	0	0	0	0	2	1	9.999573e-01	17	429	0	87	2								-2.779577	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.430000	0.260000	0.650000	0.430000	0.448712	0.430000	0	3.400000e-01	5.500000e-01
UHRF1BP1	54887	broad.mit.edu	37	6	34827139	34827139	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34827139G>A	ENST00000192788.5	+	14	3177	c.3006G>A	c.(3004-3006)gtG>gtA	p.V1002V	UHRF1BP1_ENST00000452449.2_Silent_p.V1002V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1			54					AGACTGCTGTGAATGGACAGG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000192788.5	0	1	hg19	CCDS43455.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	0	0	0	12	356	0	81	0	2.459443e-01	1	26	0	81	2		0	0	0	0	0	2	1	9.989795e-01	11	346	0	81	2								-12.217060	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.380000	0.210000	0.620000	0.380000	0.402624	0.380000	0	2.800000e-01	5.100000e-01
ANKS1A	23294	broad.mit.edu	37	6	34935091	34935091	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34935091C>T	ENST00000360359.3	+	2	411	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ANKS1A_ENST00000535627.1_Silent_p.G91G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A			31					CTTTGAATGGCCATAAGTAAG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000360359.3	1	1	hg19	CCDS4798.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	1	0	1	53	321	0	83	1	7.726709e-01	3	16	0	83	2		0	0	0	0	0	2	1	1	53	316	0	83	2								-19.999840	1	1	121412	1	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
ANKS1A	23294	broad.mit.edu	37	6	34937945	34937945	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34937945T>C	ENST00000360359.3	+	3	573		c.e3+2		ANKS1A_ENST00000535627.1_Splice_Site	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A			31					AATGAACAGGTCGGAAGGAAG	0.527000																								0							SO:0001630	splice_region_variant			ENST00000360359.3	1	1	hg19	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026314	0.93518	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35045923	1.000000	0.71417	0.951000	0.38953	0.942000	0.58702	6.290000	0.72712	2.367000	0.80283	0.528000	0.53228	.		TCGA-IB-7651-01A-11D-2154-08	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	1	0	1	43	169	0	60	1	3.582483e-01	6	0	0	60	2		0	0	0	0	0	2	1	1	41	166	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKS1A	23294	broad.mit.edu	37	6	34953057	34953057	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34953057T>G	ENST00000360359.3	+	8	1347		c.e8+2		ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A			31					GTGAGGCCTGTATGTGACCCG	0.622000																								0							SO:0001630	splice_region_variant			ENST00000360359.3	1	1	hg19	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054514	0.75960	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6019	0.68447	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKS1A	35061035	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.896000	0.63222	2.180000	0.69256	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	1	0	0	22	255	0	47	1	1.994085e-02	2	1	0	47	2		0	0	0	0	0	2	1	9.999987e-01	22	249	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.920000	0.600000	1.000000	1.000000	0.890632	0.920000	1	7.400000e-01	1
ANKS1A	23294	broad.mit.edu	37	6	34985670	34985670	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34985670C>A	ENST00000360359.3	+	11	1982	c.1844C>A	c.(1843-1845)gCt>gAt	p.A615D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A			31					AAACCCAAAGCTGAACTCAAA	0.582000																								0							SO:0001583	missense			ENST00000360359.3	1	1	hg19	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800076	0.50208	.	.	ENSG00000064999	ENST00000360359	T	0.39997	1.05	5.41	4.54	0.55810	.	0.000000	0.48767	D	0.000161	T	0.45657	0.1353	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.51356	-0.8716	10	0.72032	D	0.01	-10.4424	12.7754	0.57443	0.0:0.9237:0.0:0.0763	.	615	Q92625	ANS1A_HUMAN	D	615	ENSP00000353518:A615D	ENSP00000353518:A615D	A	+	2	0	ANKS1A	35093648	0.980000	0.34600	0.999000	0.59377	0.996000	0.88848	2.361000	0.44160	1.416000	0.47057	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	0	0	1	238	971	1	215	1	9.992884e-01	11	44	1	215	3		0	0	0	0	0	2	1	1	236	953	1	214	19								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCUBE3	222663	broad.mit.edu	37	6	35210976	35210976	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35210976C>A	ENST00000274938.7	+	15	1872	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	SCUBE3_ENST00000394681.1_Silent_p.S640S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3			37					CGATGGAGTCCTGTAGGCCCG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000274938.7	1	1	hg19	CCDS4800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	1	0	1	77	303	0	40	0	1.872195e-01	0	4	0	40	2		0	0	0	0	0	2	1	1	76	296	0	39	2								-3.443297	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF76	7629	broad.mit.edu	37	6	35254112	35254112	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35254112T>C	ENST00000373953.3	+	4	434	c.168T>C	c.(166-168)ttT>ttC	p.F56F	ZNF76_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Silent_p.F56F	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76			16					CTCTCTCCTTTGAGGATGGTC	0.577000													Esophageal Squamous(52;92 1039 20612 23956 34676)											0							SO:0001819	synonymous_variant			ENST00000373953.3	1	1	hg19	CCDS4801.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	1	0	1	33	206	0	43	1	9.954476e-01	16	39	0	43	2		0	0	0	0	0	2	1	1	33	199	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999739	0.990000	1	9.900000e-01	1
ZNF76	7629	broad.mit.edu	37	6	35255528	35255528	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35255528T>C	ENST00000373953.3	+	5	604	c.338T>C	c.(337-339)gTa>gCa	p.V113A	ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76			16					ATCCTGGCCGTACAGACAGAG	0.607000													Esophageal Squamous(52;92 1039 20612 23956 34676)											0							SO:0001583	missense			ENST00000373953.3	1	1	hg19	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146691	0.37923	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.09445	2.98;3.01;2.99;3.0	5.17	5.17	0.71159	.	0.000000	0.38897	N	0.001531	T	0.12518	0.0304	L	0.39397	1.21	0.45852	D	0.998718	P;D;B;B	0.61697	0.745;0.99;0.093;0.029	B;P;B;B	0.57371	0.251;0.819;0.026;0.012	T	0.01130	-1.1442	10	0.72032	D	0.01	.	14.3428	0.66639	0.0:0.0:0.0:1.0	.	113;113;113;113	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	A	113;113;113;113;87;113	ENSP00000419106:V113A;ENSP00000363064:V113A;ENSP00000392243:V87A;ENSP00000344097:V113A	ENSP00000229405:V113A	V	+	2	0	ZNF76	35363506	1.000000	0.71417	0.980000	0.43619	0.001000	0.01503	7.493000	0.81493	2.167000	0.68274	0.533000	0.62120	GTA		TCGA-IB-7651-01A-11D-2154-08	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	1	0	0	41	172	0	48	1	9.999705e-01	21	49	0	48	2		0	0	0	0	0	2	1	1	40	171	0	48	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEF6	50619	broad.mit.edu	37	6	35285747	35285747	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35285747A>T	ENST00000316637.5	+	6	892	c.887A>T	c.(886-888)gAc>gTc	p.D296V	DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.D41V	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)			15					AGCGCCTCAGACACGCGCCAG	0.612000																								0							SO:0001583	missense			ENST00000316637.5	1	1	hg19	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	A	34	5.306036	0.95629	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.32988	1.43;2.53	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.987;0.987	T	0.66622	-0.5877	10	0.87932	D	0	-36.6858	13.9142	0.63887	1.0:0.0:0.0:0.0	.	41;296;296	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	V	41;296	ENSP00000442166:D41V;ENSP00000319831:D296V	ENSP00000319831:D296V	D	+	2	0	DEF6	35393725	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.035000	0.60131	0.377000	0.23210	GAC		TCGA-IB-7651-01A-11D-2154-08	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	1	0	1	19	110	0	26	1	9.958929e-01	16	39	0	26	2		0	0	0	0	0	2	1	9.999945e-01	19	110	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998644	0.990000	1	9.900000e-01	1
PPARD	5467	broad.mit.edu	37	6	35393666	35393666	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35393666G>A	ENST00000311565.4	+	9	1485	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PPARD_ENST00000418635.2_Missense_Mutation_p.R281H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000448077.2_Missense_Mutation_p.R340H|PPARD_ENST00000540939.1_Missense_Mutation_p.R276H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	p.R379H(1)		23				Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACCATCCTGCGTGCCCTCGAA	0.627000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000311565.4	1	1	hg19	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922548	0.33908	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.05	2.1	0.27182	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.453737	0.25708	N	0.028835	T	0.81997	0.4941	N	0.04335	-0.225	0.38358	D	0.944533	D;P;P	0.53151	0.958;0.882;0.95	P;B;B	0.44359	0.447;0.443;0.443	T	0.80141	-0.1506	10	0.17832	T	0.49	.	8.4014	0.32588	0.349:0.0:0.651:0.0	.	281;340;379	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	H	340;379;281;379;276	ENSP00000414372:R340H;ENSP00000353916:R379H;ENSP00000413314:R281H;ENSP00000310928:R379H;ENSP00000443759:R276H	ENSP00000310928:R379H	R	+	2	0	PPARD	35501644	0.997000	0.39634	0.995000	0.50966	0.982000	0.71751	1.886000	0.39688	0.434000	0.26340	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	1	0	1	71	264	0	64	1	9.999999e-01	22	70	0	64	2		0	0	0	0	0	2	1	1	71	258	0	62	2								-20.000000	1	1	121412	3	36	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL10A	4736	broad.mit.edu	37	6	35438416	35438416	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35438416T>A	ENST00000322203.6	+	6	570	c.543T>A	c.(541-543)taT>taA	p.Y181*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a			4					AGCTTGTGTATAACATTCACC	0.502000																								0							SO:0001587	stop_gained			ENST00000322203.6	0	1	hg19	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728087	0.48833	.	.	ENSG00000198755	ENST00000322203	.	.	.	4.67	-0.317	0.12736	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	8.8598	0.35249	0.0:0.5867:0.0:0.4133	.	.	.	.	X	181	.	ENSP00000363018:Y181X	Y	+	3	2	RPL10A	35546394	1.000000	0.71417	0.996000	0.52242	0.910000	0.53928	1.733000	0.38156	-0.163000	0.10946	-0.441000	0.05720	TAT		TCGA-IB-7651-01A-11D-2154-08	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	0	0	0	10	335	0	88	1	1	204	2919	0	88	2		0	0	0	0	0	2	1	9.959946e-01	10	316	0	88	2								-3.475151	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.340000	0.170000	0.580000	0.330000	0.362915	0.340000	0	2.500000e-01	4.600000e-01
TEAD3	7005	broad.mit.edu	37	6	35443205	35443205	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35443205A>G	ENST00000402886.3	-	10	1075	c.922T>C	c.(922-924)Tgc>Cgc	p.C308R	TEAD3_ENST00000338863.7_Missense_Mutation_p.C368R			Q99594	TEAD3_HUMAN	TEA domain family member 3			10					ATGTACTCGCACATGGGCGAG	0.557000																								0							SO:0001583	missense			ENST00000402886.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.0	4.076978	0.76415	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905	T;T	0.32988	1.43;1.43	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.73575	-0.3939	10	0.87932	D	0	-32.1485	14.5092	0.67772	1.0:0.0:0.0:0.0	.	308;384;368	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	R	368;308;384	ENSP00000345772:C368R;ENSP00000384577:C308R	ENSP00000345772:C368R	C	-	1	0	TEAD3	35551183	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.265000	0.95647	2.023000	0.59567	0.374000	0.22700	TGC		TCGA-IB-7651-01A-11D-2154-08	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2	1	0	1	30	312	0	84	1	9.999532e-01	16	145	0	84	2		0	0	0	0	0	2	1	1	30	309	0	84	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.700000	1.000000	1.000000	0.945187	0.990000	1	8.500000e-01	1
TULP1	7287	broad.mit.edu	37	6	35466170	35466170	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35466170C>T	ENST00000229771.6	-	15	1642	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	TEAD3_ENST00000402886.3_5'Flank|TEAD3_ENST00000338863.7_5'Flank|TULP1_ENST00000322263.4_Silent_p.P468P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1			19					GGGCGCACAGCGGGTACCGGT	0.687000													GBM(55;1027 1091 11115 23439)											0							SO:0001819	synonymous_variant			ENST00000229771.6	1	1	hg19	CCDS4807.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2	1	0	1	32	141	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	1	31	139	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
FKBP5	2289	broad.mit.edu	37	6	35587999	35587999	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35587999C>T	ENST00000539068.1	-	4	505	c.303G>A	c.(301-303)gaG>gaA	p.E101E	FKBP5_ENST00000542713.1_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000536438.1_Silent_p.E101E	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5			17					AATGGCATATCTCTCCTTTCT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000539068.1	1	1	hg19	CCDS4808.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2	1	0	1	84	306	0	97	1	1	72	595	0	97	2		0	0	0	0	0	2	1	1	86	288	0	89	2								-3.993444	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LHFPL5	222662	broad.mit.edu	37	6	35773690	35773690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35773690C>T	ENST00000373853.1	+	1	621	c.243C>T	c.(241-243)ggC>ggT	p.G81G	LHFPL5_ENST00000360215.1_Silent_p.G81G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5			20					TCTGCAAGGGCGGCCCCCTAG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000373853.1	1	1	hg19	CCDS4812.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	1	0	1	198	846	0	214	0	0	0	1	0	214	2		0	0	0	0	0	2	1	1	192	830	0	213	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LHFPL5	222662	broad.mit.edu	37	6	35782423	35782423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782423C>T	ENST00000373853.1	+	2	891	c.513C>T	c.(511-513)ggC>ggT	p.G171G	LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000360215.1_Silent_p.G171G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5			20					ACACGCTGGGCCACTGCACCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000373853.1	1	1	hg19	CCDS4812.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	1	0	1	57	306	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	56	301	0	52	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRPK1	6732	broad.mit.edu	37	6	35842022	35842022	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35842022T>G	ENST00000373825.2	-	7	858	c.573A>C	c.(571-573)aaA>aaC	p.K191N	SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N|SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N					SRSF protein kinase 1			21					GCTGAATAATTTTTTTGACAC	0.353000													NSCLC(31;67 978 16289 24856 26454)											0							SO:0001583	missense			ENST00000373825.2	0	1	hg19	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834841	0.50951	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.17	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.30479	0.0766	N	0.12961	0.28	0.43846	D	0.996439	B;P	0.36660	0.141;0.564	B;B	0.37480	0.087;0.251	T	0.29458	-1.0011	9	0.45353	T	0.12	-18.5937	5.8954	0.18937	0.0:0.1843:0.1347:0.681	.	175;191	B4DS61;Q96SB4	.;SRPK1_HUMAN	N	191;207;175;84	ENSP00000362931:K191N;ENSP00000354674:K207N;ENSP00000391069:K175N;ENSP00000362928:K84N	ENSP00000354674:K207N	K	-	3	2	SRPK1	35950000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.950000	0.40323	1.151000	0.42436	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	1	0	1	17	66	0	10	1	9.996361e-01	9	48	0	10	2		0	0	0	0	0	2	1	9.999788e-01	17	64	0	10	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999811	0.990000	1	9.900000e-01	1
SLC26A8	116369	broad.mit.edu	37	6	35927364	35927364	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35927364T>C	ENST00000490799.1	-	16	2089	c.1736A>G	c.(1735-1737)gAt>gGt	p.D579G	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D579G	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8			46					CTTTACCATATCAACCTGAAA	0.453000																								0							SO:0001583	missense			ENST00000490799.1	1	1	hg19	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	9.879	1.201168	0.22121	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.87103	-2.21;-2.21;-2.21	5.49	-2.78	0.05859	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.868246	0.10236	N	0.699075	T	0.47173	0.1431	N	0.20685	0.6	0.09310	N	1	B;B;B	0.18461	0.005;0.003;0.028	B;B;B	0.16722	0.011;0.005;0.016	T	0.48990	-0.8985	10	0.02654	T	1	.	6.4329	0.21807	0.0:0.3828:0.1352:0.482	.	579;474;161	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	G	579;474;579	ENSP00000417638:D579G;ENSP00000378100:D474G;ENSP00000347778:D579G	ENSP00000347778:D579G	D	-	2	0	SLC26A8	36035342	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.361000	0.20267	-0.844000	0.04184	-1.437000	0.01076	GAT		TCGA-IB-7651-01A-11D-2154-08	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2	0	0	0	17	542	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	9.999594e-01	17	531	0	105	2								-3.398227	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.350000	0.210000	0.540000	0.350000	0.369488	0.350000	0	2.700000e-01	4.500000e-01
SLC26A8	116369	broad.mit.edu	37	6	35967781	35967781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35967781G>A	ENST00000490799.1	-	4	786	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8			46					ATGGACATTTGATGACACGAT	0.403000																								0							SO:0001587	stop_gained			ENST00000490799.1	0	1	hg19	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	39	7.329593	0.98214	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	5.4	5.4	0.78164	.	0.163089	0.43260	D	0.000589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0345	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	X	145	.	ENSP00000347778:Q145X	Q	-	1	0	SLC26A8	36075759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.192000	0.65115	2.694000	0.91930	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2	1	0	1	87	812	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1	86	800	0	155	2								-19.999870	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.900000	1.000000	1.000000	0.993396	0.990000	1	9.900000e-01	1
BRPF3	27154	broad.mit.edu	37	6	36172526	36172526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36172526C>T	ENST00000357641.6	+	3	1793	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3			40					GCGGCAGGCACGGAATGGTGT	0.512000																								0							SO:0001583	missense			ENST00000357641.6	1	1	hg19	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757713	0.49468	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000527657	T;T;T;T;T;T	0.28255	1.88;1.99;1.98;1.99;1.98;1.62	5.43	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.53865	-0.8378	10	0.87932	D	0	.	13.1546	0.59509	0.7058:0.2942:0.0:0.0	.	514;514;514	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	W	514;514;514;514;514;514;60	ENSP00000350267:R514W;ENSP00000345419:R514W;ENSP00000434501:R514W;ENSP00000445352:R514W;ENSP00000387368:R514W;ENSP00000436504:R514W	ENSP00000345419:R514W	R	+	1	2	BRPF3	36280504	0.854000	0.29725	0.992000	0.48379	0.996000	0.88848	1.755000	0.38379	0.588000	0.29660	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	1	0	1	107	575	0	124	1	9.983392e-01	14	39	0	124	2		0	0	0	0	0	2	1	1	103	565	0	123	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRPF3	27154	broad.mit.edu	37	6	36185695	36185695	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185695C>T	ENST00000357641.6	+	9	3244	c.2991C>T	c.(2989-2991)ggC>ggT	p.G997G	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Splice_Site_p.G727G|BRPF3_ENST00000339717.7_Splice_Site_p.G727G|BRPF3_ENST00000534400.1_Splice_Site_p.G997G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	p.G997G(1)		40					CCTTGGCAGGCATGACCAACG	0.537000																								1	Substitution - coding silent(1)						SO:0001630	splice_region_variant			ENST00000357641.6	1	0	hg19	CCDS34437.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	1	0	1	45	212	0	68	1	9.999338e-01	10	61	0	68	2		0	0	0	0	0	2	1	1	44	208	0	68	2								-3.400518	1	0	121412	1	27	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRPF3	27154	broad.mit.edu	37	6	36185729	36185729	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185729G>A	ENST00000357641.6	+	9	3278	c.3025G>A	c.(3025-3027)Ggg>Agg	p.G1009R	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	p.G1009W(1)		40					CACCGAAAGCGGGTCTGACTC	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000357641.6	1	1	hg19	CCDS34437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.660639|2.660639	0.47572|0.47572	.|.	.|.	ENSG00000096070|ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000543502;ENST00000534400|ENST00000394572	T;T;T;T|.	0.17691|.	2.47;2.26;2.26;2.3|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.311404|.	0.35970|.	N|.	0.002867|.	T|T	0.48554|0.48554	0.1506|0.1506	N|N	0.20401|0.20401	0.57|0.57	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.474;0.999|.	B;D|.	0.62955|.	0.124;0.909|.	T|T	0.48222|0.48222	-0.9054|-0.9054	10|6	0.12766|0.42905	T|T	0.61|0.14	.|.	20.1963|20.1963	0.98243|0.98243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	739;1009|.	Q17RB6;Q9ULD4|.	.;BRPF3_HUMAN|.	R|Q	1009;739;739;1009|422	ENSP00000350267:G1009R;ENSP00000345419:G739R;ENSP00000445352:G739R;ENSP00000436504:G1009R|.	ENSP00000345419:G739R|ENSP00000378073:R422Q	G|R	+|+	1|2	0|0	BRPF3|BRPF3	36293707|36293707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.998000|4.998000	0.63927|0.63927	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGG|CGG		TCGA-IB-7651-01A-11D-2154-08	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	1	0	1	59	251	0	73	1	9.999884e-01	16	58	0	73	2		0	0	0	0	0	2	1	1	57	245	0	72	2								-2.468185	0	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPLA1	285848	broad.mit.edu	37	6	36262089	36262089	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36262089C>T	ENST00000394571.2	+	4	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1			22					CCATCTTCCACGACTTCCGCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000394571.2	1	1	hg19	CCDS54997.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	79	348	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	79	341	0	97	2								-20.000000	1	1	121412	84	50	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C6orf222	389384	broad.mit.edu	37	6	36298366	36298366	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36298366G>A	ENST00000437635.2	-	2	279	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222			26					AGAGCCAATGGCAGTCCCACG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000437635.2	1	1	hg19	CCDS34439.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	1	0	0	112	488	0	108	1	8.275810e-01	5	11	0	108	2		0	0	0	0	0	2	1	1	106	482	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ETV7	51513	broad.mit.edu	37	6	36336729	36336729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36336729C>T	ENST00000340181.4	-	6	1025	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ETV7_ENST00000373738.1_Missense_Mutation_p.A207T|ETV7_ENST00000339796.5_Missense_Mutation_p.A262T|ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000538992.1_Missense_Mutation_p.A111T	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7			10					CAGAGTCTGGCGAGCCCATTT	0.537000																								0							SO:0001583	missense			ENST00000340181.4	1	1	hg19	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221298	0.95139	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.18	4.18	0.49190	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.143577	0.46145	U	0.000312	T	0.61874	0.2382	M	0.91818	3.245	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.998;1.0	T	0.74182	-0.3748	10	0.87932	D	0	.	16.1147	0.81301	0.0:1.0:0.0:0.0	.	203;185;207;262;207;262	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	T	262;262;185;207;111	ENSP00000342260:A262T;ENSP00000341843:A262T;ENSP00000362842:A185T;ENSP00000362843:A207T;ENSP00000440592:A111T	ENSP00000342260:A262T	A	-	1	0	ETV7	36444707	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.976000	0.76135	1.865000	0.54081	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	1	0	1	135	648	0	157	1	1	29	99	0	157	2		0	0	0	0	0	2	1	1	133	642	0	154	2								-3.330675	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPNE5	57699	broad.mit.edu	37	6	36710162	36710162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36710162C>T	ENST00000244751.2	-	21	2289	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.V263V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V			25					TCATGTAGGACACCAGTTGGT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000244751.2	1	1	hg19	CCDS4825.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	0	0	0	24	636	0	106	0	6.389727e-02	0	11	0	106	2		0	0	0	0	0	2	1	9.999996e-01	24	632	0	105	2								-19.969850	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.420000	0.270000	0.600000	0.420000	0.435512	0.420000	0	3.400000e-01	5.200000e-01
CPNE5	57699	broad.mit.edu	37	6	36714294	36714294	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36714294G>A	ENST00000244751.2	-	16	1703	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V			25					CAGCGCCAGCGCGTAGGCGTT	0.612000																								0							SO:0001583	missense			ENST00000244751.2	1	1	hg19	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437808	0.62955	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.22539	1.95;1.95	4.77	4.77	0.60923	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	L	0.46614	1.455	0.80722	D	1	P	0.36412	0.552	B	0.38880	0.284	T	0.02797	-1.1109	10	0.49607	T	0.09	.	15.2842	0.73814	0.0:0.0:1.0:0.0	.	360	Q9HCH3	CPNE5_HUMAN	V	360;68	ENSP00000244751:A360V;ENSP00000376885:A68V	ENSP00000244751:A360V	A	-	2	0	CPNE5	36822272	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	3.686000	0.54685	2.193000	0.70182	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	1	0	1	53	301	0	84	0	8.901672e-01	0	24	0	84	2		0	0	0	0	0	2	1	1	53	293	0	83	2								-19.999990	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CPNE5	57699	broad.mit.edu	37	6	36742762	36742762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36742762G>T	ENST00000244751.2	-	10	1337	c.713C>A	c.(712-714)gCc>gAc	p.A238D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V			25					GTTGCAGAGGGCTCTCACGGG	0.522000																								0							SO:0001583	missense			ENST00000244751.2	1	1	hg19	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276253	0.40294	.	.	ENSG00000124772	ENST00000244751	T	0.38240	1.15	5.28	4.4	0.53042	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.107348	0.64402	D	0.000007	T	0.12860	0.0312	N	0.10685	0.025	0.80722	D	1	B	0.24576	0.106	B	0.35899	0.213	T	0.11446	-1.0587	10	0.62326	D	0.03	.	12.2525	0.54605	0.0:0.3298:0.6702:0.0	.	238	Q9HCH3	CPNE5_HUMAN	D	238	ENSP00000244751:A238D	ENSP00000244751:A238D	A	-	2	0	CPNE5	36850740	1.000000	0.71417	0.994000	0.49952	0.302000	0.27658	9.282000	0.95840	1.187000	0.43000	0.448000	0.29417	GCC		TCGA-IB-7651-01A-11D-2154-08	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	1	0	1	38	142	0	51	0	4.683841e-02	0	2	0	51	2		0	0	0	0	0	2	1	1	37	138	0	51	2								-19.999990	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPIL1	51645	broad.mit.edu	37	6	36824411	36824411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36824411G>A	ENST00000373699.5	-	3	482	c.231C>T	c.(229-231)atC>atT	p.I77I	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1			2					GTTTGCCATAGATAGATGCAC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000373699.5	1	1	hg19	CCDS4826.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1	1	0	1	32	192	0	62	1	9.999978e-01	37	90	0	62	2		0	0	0	0	0	2	1	1	32	190	0	60	2								-3.228811	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999815	0.990000	1	9.900000e-01	1
FGD2	221472	broad.mit.edu	37	6	36982780	36982780	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36982780G>A	ENST00000274963.8	+	8	1166	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2			25					ATCTCCTTCCGCCGCAACGAC	0.632000																								0							SO:0001583	missense			ENST00000274963.8	1	1	hg19	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006673	0.93287	.	.	ENSG00000146192	ENST00000274963	T	0.78126	-1.15	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.43260	D	0.000593	D	0.84279	0.5437	M	0.63843	1.955	0.47037	D	0.999295	D	0.89917	1.0	D	0.91635	0.999	D	0.86284	0.1669	10	0.87932	D	0	0.4254	17.1483	0.86772	0.0:0.0:1.0:0.0	.	332	Q7Z6J4	FGD2_HUMAN	H	332	ENSP00000274963:R332H	ENSP00000274963:R332H	R	+	2	0	FGD2	37090758	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.847000	0.55895	2.367000	0.80283	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	1	0	1	48	215	0	66	0	9.987227e-01	0	48	0	66	2		0	0	0	0	0	2	1	1	46	209	0	65	2								-20.000000	1	1	121412	2	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF8	9025	broad.mit.edu	37	6	37336474	37336474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37336474C>T	ENST00000373479.4	+	3	648	c.455C>T	c.(454-456)aCt>aTt	p.T152I	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.T152I	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase			13					GAATTGAGAACTAAAAGGAAA	0.358000																								0							SO:0001583	missense			ENST00000373479.4	1	1	hg19	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283628	0.80803	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.84442	-1.85;0.64;0.77	5.85	5.85	0.93711	.	0.187543	0.47455	D	0.000222	D	0.84370	0.5457	M	0.69823	2.125	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.44860	0.462;0.462	D	0.86284	0.1669	10	0.62326	D	0.03	-4.7932	19.1613	0.93533	0.0:1.0:0.0:0.0	.	95;152	C9J858;O76064	.;RNF8_HUMAN	I	152;95;152	ENSP00000362578:T152I;ENSP00000417736:T95I;ENSP00000418879:T152I	ENSP00000362578:T152I	T	+	2	0	RNF8	37444452	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.212000	0.72188	2.768000	0.95171	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2	1	0	1	60	264	0	60	1	9.999696e-01	18	52	0	60	2		0	0	0	0	0	2	1	1	60	258	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF8	9025	broad.mit.edu	37	6	37348968	37348968	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37348968A>G	ENST00000373479.4	+	7	1472	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase			13					CTCCTACTGTATCAATGAATG	0.423000																								0							SO:0001583	missense			ENST00000373479.4	1	1	hg19	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804781	0.90623	.	.	ENSG00000112130	ENST00000373479	T	0.73258	-0.73	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74535	-0.3633	10	0.48119	T	0.1	-7.7491	15.6539	0.77118	1.0:0.0:0.0:0.0	.	427	O76064	RNF8_HUMAN	V	427	ENSP00000362578:I427V	ENSP00000362578:I427V	I	+	1	0	RNF8	37456946	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	ATC		TCGA-IB-7651-01A-11D-2154-08	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2	1	0	1	118	547	0	119	1	9.999986e-01	24	65	0	119	2		0	0	0	0	0	2	1	1	115	538	0	118	2								-20.000000	1	1	121412	1	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDGA1	266727	broad.mit.edu	37	6	37605152	37605152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37605152G>A	ENST00000434837.3	-	17	4038	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1			38					CATCATCTCTGCAACGCCAAG	0.637000																								0							SO:0001587	stop_gained			ENST00000434837.3	0	1	hg19	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	50	16.214899	0.99857	.	.	ENSG00000112139	ENST00000434837;ENST00000297153	.	.	.	4.77	3.88	0.44766	.	3.543960	0.00921	N	0.002591	.	.	.	.	.	.	0.24366	N	0.99486	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.8523	0.57864	0.0:0.1656:0.8344:0.0	.	.	.	.	X	954;958	.	ENSP00000297153:Q958X	Q	-	1	0	MDGA1	37713130	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.265000	0.58865	1.090000	0.41315	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3	1	0	0	15	327	0	76	0	1.713914e-01	0	16	0	76	2		0	0	0	0	0	2	1	9.998628e-01	15	321	0	74	2								-15.954500	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.510000	0.300000	0.790000	0.500000	0.532335	0.510000	0	3.900000e-01	6.600000e-01
MDGA1	266727	broad.mit.edu	37	6	37619936	37619936	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37619936C>T	ENST00000434837.3	-	7	2341	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H|MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1			38					AGGATCATTGCGGGTCACCAG	0.587000																								0							SO:0001583	missense			ENST00000434837.3	1	1	hg19	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238185	0.79800	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.67345	-0.26;-0.26;-0.26	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000519	T	0.73385	0.3580	L	0.50993	1.605	0.47584	D	0.999464	D	0.89917	1.0	D	0.85130	0.997	T	0.71728	-0.4505	10	0.40728	T	0.16	.	18.0867	0.89460	0.0:1.0:0.0:0.0	.	388	Q8NFP4	MDGA1_HUMAN	H	388	ENSP00000402584:R388H;ENSP00000297153:R388H;ENSP00000422042:R388H	ENSP00000297153:R388H	R	-	2	0	MDGA1	37727914	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	2.214000	0.42853	2.524000	0.85096	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3	1	0	1	59	325	0	80	0	7.600164e-01	0	17	0	80	2		0	0	0	0	0	2	1	1	59	316	0	80	2								-2.971455	1	1	120952	3	37	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTBD9	114781	broad.mit.edu	37	6	38312855	38312855	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38312855A>C	ENST00000481247.1	-	7	1320	c.1169T>G	c.(1168-1170)gTt>gGt	p.V390G	BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G|BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G|BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9			12					GTGAGTCCCAACAATTCGAAT	0.388000																								0							SO:0001583	missense			ENST00000481247.1	1	1	hg19	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245619	0.39697	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98296	-4.85;-4.85;-1.23;-4.85;-4.85	5.45	5.45	0.79879	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.86953	2.85	0.80722	D	1	B;D	0.59357	0.003;0.985	B;D	0.73708	0.003;0.981	D	0.99840	1.1061	10	0.87932	D	0	.	15.5183	0.75842	1.0:0.0:0.0:0.0	.	360;390	Q494V9;Q96Q07	.;BTBD9_HUMAN	G	322;390;360;390;322	ENSP00000323408:V322G;ENSP00000418751:V390G;ENSP00000415365:V360G;ENSP00000386121:V390G;ENSP00000386211:V322G	ENSP00000323408:V322G	V	-	2	0	BTBD9	38420833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.179000	0.89692	2.073000	0.62155	0.383000	0.25322	GTT		TCGA-IB-7651-01A-11D-2154-08	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	1	0	1	56	249	0	86	1	9.796711e-01	9	21	0	86	2		0	0	0	0	0	2	1	1	53	246	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM50B	26240	broad.mit.edu	37	6	3850321	3850321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3850321G>T	ENST00000380274.1	+	1	702	c.276G>T	c.(274-276)caG>caT	p.Q92H	FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B			17	Ovarian(93;0.0925)	all_hematologic(90;0.108)			CCAAGCGCCAGCACCTGGAGG	0.682000																								0							SO:0001583	missense			ENST00000380274.1	1	1	hg19	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232500	0.22626	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.4	0.595	0.17490	.	0.124634	0.52532	D	0.000069	T	0.25901	0.0631	N	0.24115	0.695	0.32716	N	0.510942	P	0.38370	0.628	P	0.50314	0.637	T	0.13629	-1.0502	9	0.52906	T	0.07	-9.468	8.009	0.30342	0.3786:0.0:0.6214:0.0	.	92	Q9Y247	FA50B_HUMAN	H	92	.	ENSP00000369625:Q92H	Q	+	3	2	FAM50B	3795320	1.000000	0.71417	0.805000	0.32314	0.035000	0.12851	2.188000	0.42612	0.230000	0.21059	0.485000	0.47835	CAG		TCGA-IB-7651-01A-11D-2154-08	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	1	0	0	18	87	0	20	0	8.541198e-01	0	19	0	20	2		0	0	0	0	0	2	1	9.999871e-01	17	85	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999438	0.990000	1	9.900000e-01	1
GLO1	2739	broad.mit.edu	37	6	38645126	38645126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38645126G>A	ENST00000373365.4	-	6	586	c.500C>T	c.(499-501)cCt>cTt	p.P167L	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I			6				Glutathione(DB00143)|Indomethacin(DB00328)	GTAGCCATCAGGATCTTGAAT	0.303000																								0							SO:0001583	missense			ENST00000373365.4	1	1	hg19	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356336	0.82243	.	.	ENSG00000124767	ENST00000373365	T	0.60299	0.2	5.92	5.06	0.68205	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91455	0.5184	10	0.87932	D	0	-20.8734	15.1386	0.72590	0.0676:0.0:0.9324:0.0	.	167	Q04760	LGUL_HUMAN	L	167	ENSP00000362463:P167L	ENSP00000362463:P167L	P	-	2	0	GLO1	38753104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.763000	0.91715	1.518000	0.48934	-0.140000	0.14226	CCT		TCGA-IB-7651-01A-11D-2154-08	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	1	0	1	57	234	0	67	1	1	113	416	0	67	2		0	0	0	0	0	2	1	1	57	230	0	65	2								-3.141754	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH8	1769	broad.mit.edu	37	6	38691111	38691111	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38691111A>G	ENST00000359357.3	+	2	78		c.e2-1		DNAH8_ENST00000449981.2_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8			260					TTCATTCCTTAGGCAAGATTT	0.313000																								0							SO:0001630	splice_region_variant			ENST00000359357.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	18.32	3.597436	0.66332	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4259	0.61026	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38799089	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	5.976000	0.70484	2.146000	0.66826	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1	77	349	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	77	339	0	82	2								-3.399621	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH8	1769	broad.mit.edu	37	6	38743659	38743659	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38743659C>A	ENST00000359357.3	+	11	1497	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M	DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M|DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8			260					ATATGACATTCTGGATCCAAG	0.294000																								0							SO:0001583	missense			ENST00000359357.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.00	3.277399	0.59758	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64618	-0.11;-0.11;-0.11	5.93	4.17	0.49024	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000007	T	0.71584	0.3357	M	0.81497	2.545	0.50313	D	0.999863	D	0.89917	1.0	D	0.97110	1.0	T	0.75451	-0.3313	10	0.59425	D	0.04	.	11.2443	0.48987	0.0:0.8568:0.0:0.1432	.	415	Q96JB1	DYH8_HUMAN	M	620;620;415;415	ENSP00000333363:L620M;ENSP00000352312:L415M;ENSP00000402294:L415M	ENSP00000333363:L620M	L	+	1	2	DNAH8	38851637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.555000	0.45854	0.866000	0.35629	-0.150000	0.13652	CTG		TCGA-IB-7651-01A-11D-2154-08	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	0	0	1	73	440	1	137		0	0	0	1	137	2		0	0	0	0	0	2	1	1	73	437	1	136	14								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH8	1769	broad.mit.edu	37	6	38783391	38783391	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38783391G>A	ENST00000359357.3	+	24	3084	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8			260					CACTACTGACGTGACCCATCA	0.453000																								0							SO:0001583	missense			ENST00000359357.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.767	0.925106	0.18056	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25749	1.82;1.81;1.78	5.01	-9.35	0.00633	.	2.459610	0.02175	N	0.060021	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15752	-1.0426	10	0.39692	T	0.17	.	6.0353	0.19704	0.1949:0.1663:0.5118:0.1269	.	944	Q96JB1	DYH8_HUMAN	M	1149;1149;944;944	ENSP00000333363:V1149M;ENSP00000352312:V944M;ENSP00000402294:V944M	ENSP00000333363:V1149M	V	+	1	0	DNAH8	38891369	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.233000	0.00139	-2.059000	0.00894	-0.866000	0.03004	GTG		TCGA-IB-7651-01A-11D-2154-08	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1	46	160	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	45	153	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH8	1769	broad.mit.edu	37	6	38790628	38790628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38790628G>A	ENST00000359357.3	+	25	3141	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8			260					TTTTGAAGAAGCTATTCCTGC	0.343000																								0							SO:0001583	missense			ENST00000359357.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.936	0.741757	0.15642	0.0	2.33E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.86;1.85;1.82	5.12	-6.83	0.01693	.	1.350950	0.04674	N	0.411146	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.10377	T	0.69	.	12.1701	0.54152	0.3127:0.1087:0.5787:0.0	.	963	Q96JB1	DYH8_HUMAN	T	1168;1168;963;963	ENSP00000333363:A1168T;ENSP00000352312:A963T;ENSP00000402294:A963T	ENSP00000333363:A1168T	A	+	1	0	DNAH8	38898606	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-1.057000	0.03486	-1.304000	0.02329	-0.471000	0.05019	GCT		TCGA-IB-7651-01A-11D-2154-08	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	0	15	158	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.998806e-01	15	155	0	26	2								-7.412325	1	1	121370	9	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.590000	1.000000	1.000000	0.918586	0.990000	1	7.800000e-01	1
DNAH8	1769	broad.mit.edu	37	6	38834380	38834380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38834380C>T	ENST00000359357.3	+	44	6115	c.5861C>T	c.(5860-5862)gCt>gTt	p.A1954V	DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8			260					CCTGGATATGCTGGGCGCCAG	0.318000																								0							SO:0001583	missense			ENST00000359357.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.518254	0.96416	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14022	2.54;2.54;2.54	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07366	-1.0776	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1954	Q96JB1	DYH8_HUMAN	V	2159;2159;1954;1954	ENSP00000333363:A2159V;ENSP00000352312:A1954V;ENSP00000402294:A1954V	ENSP00000333363:A2159V	A	+	2	0	DNAH8	38942358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.941000	0.99782	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	0	30	122	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	30	121	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
DNAH8	1769	broad.mit.edu	37	6	38840488	38840488	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38840488C>T	ENST00000359357.3	+	48	6770	c.6516C>T	c.(6514-6516)gaC>gaT	p.D2172D	DNAH8_ENST00000441566.1_Silent_p.D2136D|DNAH8_ENST00000449981.2_Silent_p.D2389D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8			260					GCAGACTGGACACTGCTACCA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000359357.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1	59	289	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1	57	282	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH8	1769	broad.mit.edu	37	6	38890961	38890961	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38890961G>T	ENST00000359357.3	+	70	10393	c.10139G>T	c.(10138-10140)aGa>aTa	p.R3380I	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Splice_Site_p.R3344I|DNAH8_ENST00000449981.2_Splice_Site_p.R3597I|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8			260					CAGATTAATAGGTGGGAATCT	0.428000																								0							SO:0001630	splice_region_variant			ENST00000359357.3	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	20.4	3.991528	0.74703	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.204756	0.45361	D	0.000374	D	0.87346	0.6154	H	0.94886	3.595	0.58432	D	0.999999	D	0.55172	0.97	P	0.59825	0.864	D	0.89862	0.4017	10	0.59425	D	0.04	.	17.56	0.87903	0.0:0.0:1.0:0.0	.	3380	Q96JB1	DYH8_HUMAN	I	3585;3585;3380;3344	ENSP00000333363:R3585I;ENSP00000352312:R3380I;ENSP00000402294:R3344I	ENSP00000333363:R3585I	R	+	2	0	DNAH8	38998939	1.000000	0.71417	0.996000	0.52242	0.622000	0.37654	6.015000	0.70791	2.644000	0.89710	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	1	0	1	42	209	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	42	206	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
GLP1R	2740	broad.mit.edu	37	6	39034062	39034062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39034062G>A	ENST00000373256.4	+	5	535	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor			31				Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TCGCCTCTGCGATCCTCCTCG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000373256.4	1	1	hg19	CCDS4839.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1	1	0	1	27	141	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1	27	139	0	41	2								-20.000000	1	1	121412	2	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
KIF6	221458	broad.mit.edu	37	6	39328261	39328261	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39328261G>A	ENST00000287152.7	-	18	2086	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I|KIF6_ENST00000229913.5_Silent_p.I115I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000373213.4_Silent_p.I503I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6			52					GCAAGTGCTCGATCTCCACCT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000287152.7	1	1	hg19	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319264	0.23994	.	.	ENSG00000164627	ENST00000458470	.	.	.	4.47	-2.17	0.07059	.	.	.	.	.	T	0.30386	0.0763	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	4.6477	0.12580	0.3828:0.0:0.3915:0.2257	.	.	.	.	L	556	.	.	S	-	2	0	KIF6	39436239	0.245000	0.23899	0.965000	0.40720	0.997000	0.91878	-0.733000	0.04898	-0.816000	0.04340	0.462000	0.41574	TCG		TCGA-IB-7651-01A-11D-2154-08	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	0	0	1	95	304	1	68	0	0	0	1	1	68	2		0	0	0	0	0	2	1	1	93	302	1	67	19								-4.867003	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF6	221458	broad.mit.edu	37	6	39353422	39353422	+	Missense_Mutation	SNP	G	G	A	rs139112928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39353422G>A	ENST00000287152.7	-	16	1931	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W|KIF6_ENST00000229913.5_Missense_Mutation_p.R64W|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	p.R613W(2)		52					TGTATATGCCGCTGGGTGATT	0.468000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000287152.7	1	1	hg19	CCDS4844.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.09	3.760680	0.69763	0.0	3.49E-4	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.73	0.423	0.16463	.	.	.	.	.	T	0.40839	0.1133	L	0.61218	1.895	0.37614	D	0.921045	D;D;B	0.89917	1.0;0.999;0.059	D;P;B	0.72075	0.976;0.827;0.01	T	0.40887	-0.9539	9	0.87932	D	0	.	4.4564	0.11645	0.0749:0.1226:0.3222:0.4803	.	557;613;613	F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	W	613;64;613;452;64;557;64;64	ENSP00000287152:R613W;ENSP00000377889:R64W;ENSP00000362312:R613W;ENSP00000362309:R452W;ENSP00000229913:R64W;ENSP00000441435:R557W;ENSP00000439064:R64W	ENSP00000229913:R64W	R	-	1	2	KIF6	39461400	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	1.070000	0.30653	0.125000	0.18397	-0.147000	0.13772	CGG		TCGA-IB-7651-01A-11D-2154-08	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	1	0	1	50	260	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1	48	246	0	62	2								-3.038148	1	1	121412	33	46	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DAAM2	23500	broad.mit.edu	37	6	39851741	39851741	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39851741C>T	ENST00000398904.2	+	15	2031	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.R617C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2			49	Ovarian(28;0.0355)|Colorectal(47;0.196)				ATTTTAGGAGCGTGTCCCTGG	0.493000																								0							SO:0001583	missense			ENST00000398904.2	1	1	hg19	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699144	0.68501	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17691	2.26;2.26;2.26	5.93	4.06	0.47325	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.372678	0.29752	N	0.011281	T	0.18593	0.0446	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67725	0.94;0.953	T	0.01725	-1.1287	10	0.87932	D	0	.	7.0974	0.25317	0.2507:0.6654:0.0:0.084	.	617;617	G5EA45;Q86T65	.;DAAM2_HUMAN	C	617	ENSP00000274867:R617C;ENSP00000381876:R617C;ENSP00000437808:R617C	ENSP00000274867:R617C	R	+	1	0	DAAM2	39959719	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.359000	0.34113	1.513000	0.48852	0.561000	0.74099	CGT		TCGA-IB-7651-01A-11D-2154-08	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	0	0	1	15	77	0	23	0	9.091565e-01	0	24	0	23	2		0	0	0	0	0	2	1	9.999048e-01	14	76	0	23	2								-10.881830	1	1	120874	1	26	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998429	0.990000	1	9.900000e-01	1
DAAM2	23500	broad.mit.edu	37	6	39855321	39855321	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39855321G>A	ENST00000398904.2	+	16	2195	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000538976.1_Silent_p.S671S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2			49	Ovarian(28;0.0355)|Colorectal(47;0.196)				AAGAGCTGTCGGTCATTGATG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000398904.2	1	1	hg19	CCDS56426.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	1	0	1	21	90	0	32	0	9.666567e-01	0	27	0	32	2		0	0	0	0	0	2	1	9.999986e-01	21	88	0	32	2								-3.315936	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999907	0.990000	1	9.900000e-01	1
DAAM2	23500	broad.mit.edu	37	6	39864744	39864744	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39864744C>A	ENST00000398904.2	+	20	2680	c.2498C>A	c.(2497-2499)tCc>tAc	p.S833Y	RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.S833Y			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2			49	Ovarian(28;0.0355)|Colorectal(47;0.196)				GACACCAAGTCCAGCATCGAC	0.592000																								0							SO:0001583	missense			ENST00000398904.2	1	1	hg19	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692462	0.88735	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.69040	-0.37;-0.37;-0.37	4.66	4.66	0.58398	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.141332	0.49305	D	0.000143	D	0.84857	0.5565	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89137	0.3514	10	0.87932	D	0	.	16.4674	0.84083	0.0:1.0:0.0:0.0	.	833;833	G5EA45;Q86T65	.;DAAM2_HUMAN	Y	833	ENSP00000274867:S833Y;ENSP00000381876:S833Y;ENSP00000437808:S833Y	ENSP00000274867:S833Y	S	+	2	0	DAAM2	39972722	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.645000	0.83430	2.433000	0.82419	0.561000	0.74099	TCC		TCGA-IB-7651-01A-11D-2154-08	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	1	0	1	40	172	0	38	0	9.864935e-01	0	32	0	38	2		0	0	0	0	0	2	1	1	40	168	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAAM2	23500	broad.mit.edu	37	6	39869088	39869088	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39869088C>T	ENST00000398904.2	+	24	3004	c.2822C>T	c.(2821-2823)gCc>gTc	p.A941V	DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.A940V			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2			49	Ovarian(28;0.0355)|Colorectal(47;0.196)				TTCGCCAAGGCCTTGATGCAC	0.562000																								0							SO:0001583	missense			ENST00000398904.2	1	1	hg19	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815744	0.50527	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.16743	2.32;2.32;2.32	5.44	4.56	0.56223	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.130091	0.50627	D	0.000110	T	0.05364	0.0142	N	0.25286	0.73	0.80722	D	1	P;P	0.40731	0.681;0.728	B;B	0.37692	0.166;0.256	T	0.33163	-0.9879	10	0.18710	T	0.47	.	15.9472	0.79803	0.0:0.8646:0.1354:0.0	.	940;941	G5EA45;Q86T65	.;DAAM2_HUMAN	V	941;941;940	ENSP00000274867:A941V;ENSP00000381876:A941V;ENSP00000437808:A940V	ENSP00000274867:A941V	A	+	2	0	DAAM2	39977066	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	6.017000	0.70805	1.268000	0.44264	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	1	0	0	67	792	0	220	0	7.692801e-01	0	35	0	220	2		0	0	0	0	0	2	1	1	65	778	0	219	2								-14.649060	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.900000	0.700000	1.000000	1.000000	0.899415	0.900000	1	8.000000e-01	1
MOCS1	4337	broad.mit.edu	37	6	39877623	39877623	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39877623C>A	ENST00000340692.5	-	9	1061	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000373186.4_Missense_Mutation_p.R353I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1			21	Ovarian(28;0.0355)|Colorectal(47;0.196)				CCCAATGATTCTCAGCAGCTC	0.602000													NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)											0							SO:0001583	missense			ENST00000340692.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.397	1.076926	0.20227	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	4.98	0.952	0.19584	Molybdenum cofactor synthesis C-terminal (1);	0.618843	0.16706	N	0.202889	T	0.77558	0.4148	M	0.79011	2.435	0.25476	N	0.987787	B;B;P;B;B	0.34909	0.419;0.087;0.475;0.419;0.178	B;B;B;B;B	0.36335	0.142;0.098;0.222;0.142;0.142	T	0.68891	-0.5289	9	.	.	.	1.1866	4.5072	0.11894	0.0:0.3477:0.2942:0.3581	.	353;353;353;353;353	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	I	353;353;324;353;266;353;353;324	ENSP00000362282:R353I;ENSP00000309843:R353I;ENSP00000362270:R324I;ENSP00000362284:R353I;ENSP00000362291:R266I;ENSP00000344794:R353I;ENSP00000416478:R353I;ENSP00000410809:R324I	.	R	-	2	0	MOCS1	39985601	0.051000	0.20477	0.016000	0.15963	0.442000	0.32017	0.454000	0.21827	-0.129000	0.11620	0.557000	0.71058	AGA		TCGA-IB-7651-01A-11D-2154-08	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	1	0	1	132	522	0	141	0	9.980394e-01	1	38	0	141	2		0	0	0	0	0	2	1	1	129	511	0	139	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRFN2	57497	broad.mit.edu	37	6	40400136	40400136	+	Missense_Mutation	SNP	A	A	T	rs140321591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40400136A>T	ENST00000338305.6	-	2	1259	c.717T>A	c.(715-717)ttT>ttA	p.F239L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2			58	Ovarian(28;0.0418)|Colorectal(47;0.196)				GGTTACCCCCAAAACTAAAGG	0.607000																								0							SO:0001583	missense			ENST00000338305.6	1	1	hg19	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296729	0.40594	.	.	ENSG00000156564	ENST00000338305	T	0.01240	5.12	5.42	-6.7	0.01766	.	0.095815	0.64402	D	0.000001	T	0.00328	0.0010	N	0.10707	0.03	0.49915	D	0.999831	B	0.24317	0.101	B	0.27715	0.082	T	0.38887	-0.9640	10	0.14656	T	0.56	.	14.7045	0.69179	0.4575:0.0:0.5424:0.0	.	239	Q9ULH4	LRFN2_HUMAN	L	239	ENSP00000345985:F239L	ENSP00000345985:F239L	F	-	3	2	LRFN2	40508114	0.069000	0.21087	0.885000	0.34714	0.784000	0.44337	-0.274000	0.08537	-1.326000	0.02266	-0.371000	0.07208	TTT		TCGA-IB-7651-01A-11D-2154-08	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	1	0	1	58	234	0	55	0	0	0	1	0	55	2		0	0	0	0	0	2	1	1	55	231	0	54	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPF4B	8899	broad.mit.edu	37	6	4060752	4060752	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4060752C>T	ENST00000337659.6	+	15	3026	c.2926C>T	c.(2926-2928)Cta>Tta	p.L976L	PRPF4B_ENST00000538861.1_Silent_p.L962L|PRPF4B_ENST00000494674.1_3'UTR	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B			22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)			AGTACACCAGCTAAAGGACTT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000337659.6	1	1	hg19	CCDS4488.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2	1	0	1	19	178	0	56	1	9.999548e-01	11	150	0	56	2		0	0	0	0	0	2	1	9.999879e-01	17	169	0	61	2								-8.885519	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.700000	1.000000	1.000000	0.959879	0.990000	1	8.800000e-01	1
UNC5CL	222643	broad.mit.edu	37	6	40996163	40996163	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40996163C>A	ENST00000373164.1	-	8	1566	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	UNC5CL_ENST00000244565.3_Missense_Mutation_p.E502D|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like			13	Ovarian(28;0.0418)|Colorectal(47;0.196)				CGCCCCCGCGCTCGGGGCCTG	0.687000											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000373164.1	1	1	hg19	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	7.147	0.582907	0.13749	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.14516	2.5;2.5	4.32	-1.68	0.08212	.	4.313200	0.00744	N	0.001035	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15484	0.013	T	0.46456	-0.9190	10	0.13853	T	0.58	0.6004	16.5715	0.84613	0.0:0.7392:0.2608:0.0	.	502	Q8IV45	UN5CL_HUMAN	D	502	ENSP00000244565:E502D;ENSP00000362258:E502D	ENSP00000244565:E502D	E	-	3	2	UNC5CL	41104141	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-0.351000	0.08249	-0.344000	0.07964	GAG		TCGA-IB-7651-01A-11D-2154-08	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	1	0	0	29	105	0	19	1	9.992924e-01	17	28	0	19	2		0	0	0	0	0	2	1	1	27	104	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
UNC5CL	222643	broad.mit.edu	37	6	40998490	40998490	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40998490A>G	ENST00000373164.1	-	6	1184	c.1124T>C	c.(1123-1125)tTg>tCg	p.L375S	UNC5CL_ENST00000244565.3_Missense_Mutation_p.L375S|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like			13	Ovarian(28;0.0418)|Colorectal(47;0.196)				CTTGGTCTCCAAGCCCTGAGT	0.552000																								0							SO:0001583	missense			ENST00000373164.1	1	1	hg19	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192500	0.21954	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16897	2.31;2.31	4.79	3.61	0.41365	.	0.393509	0.18792	N	0.131024	T	0.03263	0.0095	N	0.24115	0.695	0.32059	N	0.595991	B	0.30193	0.272	B	0.23275	0.045	T	0.42258	-0.9462	10	0.24483	T	0.36	-7.3284	8.4273	0.32735	0.8019:0.1981:0.0:0.0	.	375	Q8IV45	UN5CL_HUMAN	S	375	ENSP00000244565:L375S;ENSP00000362258:L375S	ENSP00000244565:L375S	L	-	2	0	UNC5CL	41106468	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.410000	0.59774	0.838000	0.34948	-0.316000	0.08728	TTG		TCGA-IB-7651-01A-11D-2154-08	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	1	0	1	38	181	0	37	1	9.978808e-01	10	37	0	37	2		0	0	0	0	0	2	1	1	37	179	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
UNC5CL	222643	broad.mit.edu	37	6	41002657	41002657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41002657C>T	ENST00000373164.1	-	1	217	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	UNC5CL_ENST00000244565.3_Missense_Mutation_p.V53M|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like			13	Ovarian(28;0.0418)|Colorectal(47;0.196)				GGCTGGGACACTGGTTCCTCT	0.587000																								0							SO:0001583	missense			ENST00000373164.1	1	1	hg19	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199508	0.22121	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.20598	2.06;2.06	4.49	4.49	0.54785	.	0.836023	0.10201	N	0.703402	T	0.07279	0.0184	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.31751	0.135	T	0.12656	-1.0539	10	0.54805	T	0.06	-3.386	12.5412	0.56172	0.0:1.0:0.0:0.0	.	53	Q8IV45	UN5CL_HUMAN	M	53	ENSP00000244565:V53M;ENSP00000362258:V53M	ENSP00000244565:V53M	V	-	1	0	UNC5CL	41110635	0.009000	0.17119	0.849000	0.33467	0.012000	0.07955	2.263000	0.43293	2.342000	0.79632	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	1	0	1	98	437	0	96	1	9.984207e-01	12	33	0	96	2		0	0	0	0	0	2	1	1	97	431	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TREML2	79865	broad.mit.edu	37	6	41166116	41166116	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41166116G>T	ENST00000483722.1	-	2	292	c.107C>A	c.(106-108)aCt>aAt	p.T36N		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2			18	Ovarian(28;0.0418)|Colorectal(47;0.196)				CACAGACAGAGTCTCCCCTTC	0.502000																								0							SO:0001583	missense			ENST00000483722.1	1	1	hg19	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307291	0.40795	.	.	ENSG00000112195	ENST00000483722	T	0.64085	-0.08	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000034	T	0.68869	0.3048	L	0.60455	1.87	0.37215	D	0.904973	D	0.76494	0.999	D	0.79108	0.992	T	0.73030	-0.4111	10	0.62326	D	0.03	-15.7229	13.6225	0.62144	0.0:0.0:1.0:0.0	.	36	Q5T2D2	TRML2_HUMAN	N	36	ENSP00000418767:T36N	ENSP00000418767:T36N	T	-	2	0	TREML2	41274094	0.999000	0.42202	0.984000	0.44739	0.036000	0.12997	4.280000	0.58959	2.344000	0.79699	0.563000	0.77884	ACT		TCGA-IB-7651-01A-11D-2154-08	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	1	0	1	191	836	0	172	0	9.173067e-02	1	2	0	172	2		0	0	0	0	0	2	1	1	188	817	0	171	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TREML4	285852	broad.mit.edu	37	6	41196470	41196470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41196470C>T	ENST00000341495.2	+	2	186	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4			8	Ovarian(28;0.0327)|Colorectal(47;0.196)				GCCTGAAGAACTTCACAAACA	0.572000																								0							SO:0001583	missense			ENST00000341495.2	1	1	hg19	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.201274	0.38905	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.68903	-0.36;-0.36	3.78	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64316	0.2587	M	0.64080	1.96	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53143	-0.8480	9	0.72032	D	0.01	-8.9772	5.2004	0.15260	0.0:0.6706:0.2107:0.1187	.	28	Q6UXN2	TRML4_HUMAN	F	28	ENSP00000342570:L28F;ENSP00000418078:L28F	ENSP00000342570:L28F	L	+	1	0	TREML4	41304448	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.330000	0.19715	0.354000	0.24105	0.591000	0.81541	CTT		TCGA-IB-7651-01A-11D-2154-08	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2	1	0	1	89	389	0	120	0	0	0	1	0	120	2		0	0	0	0	0	2	1	1	88	381	0	119	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECI2	10455	broad.mit.edu	37	6	4130619	4130619	+	Missense_Mutation	SNP	G	G	A	rs149056651	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4130619G>A	ENST00000380118.3	-	4	524	c.488C>T	c.(487-489)gCc>gTc	p.A163V	ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.A133V|ECI2_ENST00000465828.1_Missense_Mutation_p.A133V|ECI2_ENST00000361538.2_Missense_Mutation_p.A133V|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2			11					AGTGTTTATGGCATTTTTCTT	0.428000																								0							SO:0001583	missense			ENST00000380118.3	1	1	hg19	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937167	0.73557	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.45	5.95	5.95	0.96441	Crotonase, core (1);	0.336949	0.34291	N	0.004084	D	0.82375	0.5023	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88447	0.3046	10	0.87932	D	0	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	163	O75521	ECI2_HUMAN	V	163;133;133;133;210	ENSP00000369461:A163V;ENSP00000369468:A133V;ENSP00000354737:A133V;ENSP00000420309:A133V;ENSP00000417459:A210V	ENSP00000354737:A133V	A	-	2	0	ECI2	4075618	1.000000	0.71417	0.652000	0.29579	0.193000	0.23685	7.516000	0.81772	2.825000	0.97269	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	1	0	1	49	233	0	50	1	1	109	258	0	50	2		0	0	0	0	0	2	1	1	49	231	0	49	2								-3.386927	1	1	121412	3	39	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDFI	4188	broad.mit.edu	37	6	41621208	41621208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41621208C>T	ENST00000373050.4	+	4	640	c.453C>T	c.(451-453)tgC>tgT	p.C151C				Q99750	MDFI_HUMAN	MyoD family inhibitor			8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		GTGCCGACTGCGACCTGCCCT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000373050.4	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	0	0	0	12	756	0	142	1	9.216319e-01	17	262	0	142	2		0	0	0	0	0	2	1	9.990587e-01	11	749	0	142	2								-2.419217	0	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.180000	0.090000	0.300000	0.180000	0.194923	0.180000	0	1.300000e-01	2.500000e-01
PGC	5225	broad.mit.edu	37	6	41712141	41712141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41712141C>T	ENST00000373025.3	-	3	384	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	PGC_ENST00000425343.2_Missense_Mutation_p.A108T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	p.A108T(1)		16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		TCACTGCAGGCCTGGCTCTGG	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373025.3	1	1	hg19	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821681	0.50633	.	.	ENSG00000096088	ENST00000373025;ENST00000425343	T;T	0.60672	0.17;0.17	4.65	3.79	0.43588	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.063203	0.64402	N	0.000010	T	0.72391	0.3454	M	0.88377	2.95	0.44175	D	0.996986	D	0.89917	1.0	D	0.79784	0.993	T	0.79014	-0.1976	10	0.87932	D	0	.	12.4447	0.55645	0.0:0.9174:0.0:0.0826	.	108	P20142	PEPC_HUMAN	T	108	ENSP00000362116:A108T;ENSP00000405094:A108T	ENSP00000362116:A108T	A	-	1	0	PGC	41820119	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	4.216000	0.58540	1.203000	0.43233	-0.225000	0.12378	GCC		TCGA-IB-7651-01A-11D-2154-08	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2	1	0	1	83	446	0	113	1	9.817280e-01	11	25	0	113	2		0	0	0	0	0	2	1	1	81	442	0	112	2								-20.000000	1	1	121412	1	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRS3	10817	broad.mit.edu	37	6	41738730	41738730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41738730G>A	ENST00000373018.3	-	7	1357	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3			14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		CTTCTGCAGTGGGGTCTCGTC	0.667000																								0							SO:0001583	missense			ENST00000373018.3	1	1	hg19	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099895	0.56183	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23950	1.88;1.88	5.76	5.76	0.90799	.	0.099722	0.64402	D	0.000001	T	0.40932	0.1137	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.61874	0.895	T	0.18555	-1.0333	10	0.66056	D	0.02	-21.6613	19.5656	0.95391	0.0:0.0:1.0:0.0	.	369	O43559	FRS3_HUMAN	L	369	ENSP00000362109:P369L;ENSP00000259748:P369L	ENSP00000259748:P369L	P	-	2	0	FRS3	41846708	1.000000	0.71417	0.965000	0.40720	0.981000	0.71138	3.630000	0.54273	2.728000	0.93425	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	1	0	0	97	467	0	89	1	4.149096e-01	2	6	0	89	2		0	0	0	0	0	2	1	1	95	460	0	86	2								-2.901534	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRICKLE4	29964	broad.mit.edu	37	6	41753969	41753969	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41753969C>T	ENST00000394260.1	+	4	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V	TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.A229V|TOMM6_ENST00000398884.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)			13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		GGACGTTATGCCCTGCCTGGG	0.672000																								0							SO:0001583	missense			ENST00000394260.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.06	1.825632	0.32237	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.81	4.81	0.61882	.	0.138533	0.33477	N	0.004876	T	0.35624	0.0938	N	0.00109	-2.105	0.37209	D	0.904731	B	0.19200	0.034	B	0.26416	0.069	T	0.50742	-0.8792	10	0.11485	T	0.65	-19.1463	7.1315	0.25504	0.0:0.8176:0.0:0.1824	.	229	Q2TBC4-3	.	V	229;229;229;189;189	ENSP00000404911:A229V;ENSP00000352128:A229V;ENSP00000377806:A229V;ENSP00000377802:A189V;ENSP00000377803:A189V	ENSP00000335185:A229V	A	+	2	0	PRICKLE4	41861947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.152000	0.64882	2.504000	0.84457	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	0	0	1	56	273	1	56	1	6.134149e-01	7	11	1	56	3		0	0	0	0	0	2	1	9.999986e-01	56	269	1	55	19								-2.963585	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP49	25862	broad.mit.edu	37	6	41774184	41774184	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774184G>A	ENST00000394253.3	-	3	867	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	USP49_ENST00000297229.2_Missense_Mutation_p.R180C|USP49_ENST00000373010.1_Missense_Mutation_p.R180C|USP49_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49			23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		TCCTTCTTGCGCTCCAGGGCC	0.726000																								0							SO:0001583	missense			ENST00000394253.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.37	1.330258	0.24167	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.07567	3.67;3.18;3.67;3.44;3.44	4.29	2.28	0.28536	.	0.238802	0.35615	N	0.003088	T	0.05502	0.0145	L	0.29908	0.895	0.43435	D	0.995605	D	0.57257	0.979	P	0.52710	0.707	T	0.29852	-0.9998	10	0.66056	D	0.02	-12.386	10.509	0.44851	0.0:0.0:0.4072:0.5928	.	180	Q70CQ1-2	.	C	180	ENSP00000377797:R180C;ENSP00000362101:R180C;ENSP00000362100:R180C;ENSP00000362097:R180C;ENSP00000297229:R180C	ENSP00000297229:R180C	R	-	1	0	USP49	41882162	0.988000	0.35896	0.999000	0.59377	0.016000	0.09150	2.116000	0.41930	0.995000	0.38917	-0.169000	0.13324	CGC		TCGA-IB-7651-01A-11D-2154-08	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	1	0	0	24	107	0	11	0	0	0	1	0	11	2		0	0	0	0	0	2	1	9.999998e-01	23	103	0	11	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
USP49	25862	broad.mit.edu	37	6	41774276	41774276	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774276C>T	ENST00000394253.3	-	3	775	c.446G>A	c.(445-447)cGc>cAc	p.R149H	USP49_ENST00000297229.2_Missense_Mutation_p.R149H|USP49_ENST00000373010.1_Missense_Mutation_p.R149H|USP49_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000373009.3_Missense_Mutation_p.R149H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49			23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		GGCCAGCAGGCGCTGACGCCG	0.701000																								0							SO:0001583	missense			ENST00000394253.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292763	0.23564	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06687	3.76;3.27;3.76;3.54;3.54	4.46	4.46	0.54185	.	0.404141	0.27896	N	0.017420	T	0.01523	0.0049	N	0.08118	0	0.33826	D	0.629658	B	0.22983	0.078	B	0.23275	0.045	T	0.47598	-0.9105	10	0.14656	T	0.56	-16.6087	11.6726	0.51411	0.0:0.671:0.329:0.0	.	149	Q70CQ1-2	.	H	149	ENSP00000377797:R149H;ENSP00000362101:R149H;ENSP00000362100:R149H;ENSP00000362097:R149H;ENSP00000297229:R149H	ENSP00000297229:R149H	R	-	2	0	USP49	41882254	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.582000	0.46085	2.288000	0.76882	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	1	0	0	25	139	0	22	0	0	0	1	0	22	2		0	0	0	0	0	2	1	9.999999e-01	25	136	0	21	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999712	0.990000	1	9.900000e-01	1
MED20	9477	broad.mit.edu	37	6	41874828	41874828	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41874828C>T	ENST00000265350.4	-	4	701	c.621G>A	c.(619-621)ccG>ccA	p.P207P	MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20			5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		TCCCAGCCACCGGCACCTGCT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000265350.4	1	1	hg19	CCDS4862.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040539.1	1	0	1	54	274	0	66	1	9.915845e-01	16	24	0	66	2		0	0	0	0	0	2	1	1	54	267	0	63	2								-2.624180	1	1	121412	2	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BYSL	705	broad.mit.edu	37	6	41895197	41895197	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41895197C>T	ENST00000230340.4	+	2	729	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like			8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		CAGCAGCGGGCCATCATGCAG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000230340.4	1	1	hg19	CCDS34450.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2	1	0	1	73	372	0	112	1	9.999710e-01	29	49	0	112	2		0	0	0	0	0	2	1	1	71	363	0	110	2								-3.331722	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCND3	896	broad.mit.edu	37	6	41908275	41908275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41908275T>G	ENST00000372991.4	-	2	445	c.247A>C	c.(247-249)Aac>Cac	p.N83H	CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000511642.1_Missense_Mutation_p.N2H|CCND3_ENST00000372988.4_Missense_Mutation_p.N2H	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3			20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		TCCAGGTAGTTCATGGCCAGG	0.637000			T	IGH@	MM										Dom	yes		6	6p21	896	cyclin D3		L	0							SO:0001583	missense			ENST00000372991.4	1	1	hg19	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	22.6|22.6	4.308671|4.308671	0.81247|0.81247	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064;ENST00000502771;ENST00000514588|ENST00000512426	T;T;T;T;T;T;T;T|.	0.13307|.	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Cyclin, N-terminal (2);Cyclin-like (3);|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|.	0.72526|.	0.3471|.	M|M	0.86573|0.86573	2.825|2.825	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.98;0.999;1.0|.	T|.	0.77338|.	-0.2625|.	10|.	0.87932|.	D|.	0|.	.|.	13.4041|13.4041	0.60900|0.60900	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2;83;33|.	B4E0N5;P30281;Q5T8J1|.	.;CCND3_HUMAN;.|.	H|C	83;2;33;2;2;2;2;33|17	ENSP00000362082:N83H;ENSP00000426212:N2H;ENSP00000362078:N33H;ENSP00000362079:N2H;ENSP00000425986:N2H;ENSP00000425830:N2H;ENSP00000425334:N2H;ENSP00000420991:N33H|.	ENSP00000362078:N33H|.	N|X	-|-	1|3	0|0	CCND3|CCND3	42016253|42016253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.010000|6.010000	0.70753|0.70753	1.839000|1.839000	0.53478|0.53478	0.459000|0.459000	0.35465|0.35465	AAC|TGA		TCGA-IB-7651-01A-11D-2154-08	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	1	0	1	87	412	0	96	1	1	35	206	0	96	2		0	0	0	0	0	2	1	1	87	407	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GUCA1A	2978	broad.mit.edu	37	6	42146144	42146144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42146144G>A	ENST00000394237.1	+	4	1304	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)			7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		CATTGACCGCGATGAGCTGCT	0.617000																								0							SO:0001583	missense			ENST00000394237.1	1	1	hg19	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	g	1.312	-0.601822	0.03744	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.57	3.7	0.42460	EF-hand-like domain (1);	0.422650	0.26840	N	0.022228	T	0.74650	0.3744	L	0.56124	1.755	0.09310	N	1	P	0.38048	0.616	B	0.30716	0.119	T	0.65747	-0.6093	9	.	.	.	.	12.8576	0.57894	0.0:0.1656:0.8344:0.0	.	110	P43080	GUC1A_HUMAN	N	110;106;110;110;110	ENSP00000437476:D110N;ENSP00000053469:D110N;ENSP00000377784:D110N;ENSP00000362049:D110N	.	D	+	1	0	GUCA1A	42254122	0.045000	0.20229	0.225000	0.23894	0.005000	0.04900	1.711000	0.37930	1.055000	0.40461	-0.121000	0.15023	GAT		TCGA-IB-7651-01A-11D-2154-08	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1	1	0	1	130	576	0	137	0	2.327423e-01	0	5	0	137	2		0	0	0	0	0	2	1	1	126	568	0	137	2								-20.000000	1	1	121412	1	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRERF1	55809	broad.mit.edu	37	6	42196122	42196122	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196122A>C	ENST00000372922.4	-	18	4126	c.3564T>G	c.(3562-3564)gaT>gaG	p.D1188E	TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E|TRERF1_ENST00000541110.1_Missense_Mutation_p.D1208E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1			45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		CTGAATCTTGATCATCCAAGA	0.498000																								0							SO:0001583	missense			ENST00000372922.4	1	1	hg19	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557120	0.65425	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12569	2.74;2.67;2.75;2.67;2.68	5.77	-0.61	0.11604	.	0.194080	0.35525	N	0.003150	T	0.02767	0.0083	L	0.27053	0.805	0.35433	D	0.794248	B;B;B;B;P	0.41131	0.005;0.003;0.003;0.005;0.739	B;B;B;B;B	0.40782	0.01;0.004;0.004;0.01;0.34	T	0.44345	-0.9334	10	0.44086	T	0.13	-9.2392	2.0843	0.03642	0.377:0.1345:0.3575:0.131	.	1105;1208;1188;944;956	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	E	1208;1117;1188;1117;1105	ENSP00000439689:D1208E;ENSP00000362008:D1117E;ENSP00000362013:D1188E;ENSP00000339438:D1117E;ENSP00000346285:D1105E	ENSP00000339438:D1117E	D	-	3	2	TRERF1	42304100	0.996000	0.38824	0.982000	0.44146	0.946000	0.59487	0.316000	0.19469	-0.086000	0.12550	0.455000	0.32223	GAT		TCGA-IB-7651-01A-11D-2154-08	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	1	0	1	83	377	0	96	0	9.351018e-01	1	22	0	96	2		0	0	0	0	0	2	1	1	81	369	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRERF1	55809	broad.mit.edu	37	6	42196272	42196272	+	Silent	SNP	G	G	A	rs150908395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196272G>A	ENST00000372922.4	-	18	3976	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000541110.1_Silent_p.P1158P|TRERF1_ENST00000372917.4_Silent_p.P1067P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	p.P1138P(1)		45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		GCGCCCCCACGGGCCCCGTAG	0.602000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000372922.4	1	1	hg19	CCDS4867.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	0	0	0	57	1903	0	292	0	4.062215e-02	0	11	0	292	2		0	0	0	0	0	2	1	1	56	1863	0	284	2								-1.837068	0	1	121412	41	55	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.330000	0.250000	0.430000	0.340000	0.342725	0.330000	0	2.900000e-01	3.900000e-01
TRERF1	55809	broad.mit.edu	37	6	42231107	42231107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42231107G>A	ENST00000372922.4	-	8	2397	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000541110.1_Missense_Mutation_p.A612V|TRERF1_ENST00000372917.4_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1			45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		CTTGTCTCTGGCGGAGGGGGC	0.657000																								0							SO:0001583	missense			ENST00000372922.4	1	1	hg19	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877247	0.51801	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.10382	2.89;2.88	4.98	3.08	0.35506	.	0.491767	0.18777	N	0.131437	T	0.01627	0.0052	N	0.08118	0	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.15870	0.014;0.014	T	0.40232	-0.9574	10	0.24483	T	0.36	-11.838	6.3266	0.21246	0.0999:0.1854:0.7147:0.0	.	612;612	Q05GC8;Q96PN7	.;TREF1_HUMAN	V	612	ENSP00000439689:A612V;ENSP00000362013:A612V	ENSP00000362013:A612V	A	-	2	0	TRERF1	42339085	0.886000	0.30341	0.970000	0.41538	0.991000	0.79684	1.357000	0.34090	1.096000	0.41439	-0.254000	0.11334	GCC		TCGA-IB-7651-01A-11D-2154-08	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	1	0	1	98	476	0	85	0	4.110037e-01	1	7	0	85	2		0	0	0	0	0	2	1	1	97	461	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBR2	23304	broad.mit.edu	37	6	42613320	42613320	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42613320C>T	ENST00000372899.1	+	21	2659	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	UBR2_ENST00000372901.1_Missense_Mutation_p.P801S|UBR2_ENST00000372883.3_Missense_Mutation_p.P305S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2			64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		AAAGTCTTTACCTGAAGATGT	0.363000																								0							SO:0001583	missense			ENST00000372899.1	1	1	hg19	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796127	0.90453	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.49432	0.78;0.78;0.78	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.65498	2.005	0.80722	D	1	D;P	0.89917	1.0;0.739	D;P	0.91635	0.999;0.574	T	0.53878	-0.8376	10	0.31617	T	0.26	-24.2107	19.9659	0.97266	0.0:1.0:0.0:0.0	.	801;801	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	801;801;305	ENSP00000361990:P801S;ENSP00000361992:P801S;ENSP00000361974:P305S	ENSP00000361974:P305S	P	+	1	0	UBR2	42721298	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.356000	0.79445	2.802000	0.96397	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	1	50	315	0	65	1	9.997321e-01	21	58	0	65	2		0	0	0	0	0	2	1	1	50	309	0	64	2								-19.996590	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
UBR2	23304	broad.mit.edu	37	6	42652582	42652582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42652582G>A	ENST00000372899.1	+	44	5084	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	UBR2_ENST00000372901.1_Missense_Mutation_p.S1609N|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2			64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		GATTACAGCAGCCTCATTAAT	0.333000																								0							SO:0001583	missense			ENST00000372899.1	1	1	hg19	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095316	0.36952	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49432	0.78;0.78	5.64	4.77	0.60923	.	0.413235	0.31188	N	0.008095	T	0.29716	0.0742	L	0.53249	1.67	0.80722	D	1	B;B	0.31383	0.321;0.084	B;B	0.35688	0.208;0.039	T	0.11397	-1.0589	10	0.20519	T	0.43	-11.6774	14.2927	0.66289	0.0714:0.0:0.9286:0.0	.	1609;1609	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	N	1609	ENSP00000361990:S1609N;ENSP00000361992:S1609N	ENSP00000361990:S1609N	S	+	2	0	UBR2	42760560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.718000	0.38001	1.374000	0.46228	0.643000	0.83706	AGC		TCGA-IB-7651-01A-11D-2154-08	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	1	32	176	0	33	1	1	39	120	0	33	2		0	0	0	0	0	2	1	1	31	175	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999937	0.990000	1	9.900000e-01	1
UBR2	23304	broad.mit.edu	37	6	42656018	42656018	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42656018C>A	ENST00000372899.1	+	45	5176	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	UBR2_ENST00000372901.1_Missense_Mutation_p.L1640M|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2			64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		CGGATCTCTGCTGTGCTCCCA	0.537000																								0							SO:0001583	missense			ENST00000372899.1	1	1	hg19	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282912	0.80692	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.69040	-0.37;-0.37	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.80993	-0.1134	10	0.72032	D	0.01	-20.2185	14.5261	0.67890	0.0:0.93:0.0:0.07	.	228;1640;1640	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	M	1640	ENSP00000361990:L1640M;ENSP00000361992:L1640M	ENSP00000361990:L1640M	L	+	1	2	UBR2	42763996	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.699000	0.47077	2.885000	0.99019	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	0	43	901	0	195	1	9.980047e-01	10	183	0	195	2		0	0	0	0	0	2	1	1	44	883	0	194	2								-5.033292	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.520000	0.380000	0.690000	0.520000	0.537680	0.520000	0	4.500000e-01	6.100000e-01
UBR2	23304	broad.mit.edu	37	6	42658801	42658801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42658801C>T	ENST00000372899.1	+	47	5416	c.5158C>T	c.(5158-5160)Cga>Tga	p.R1720*	UBR2_ENST00000372901.1_Nonsense_Mutation_p.R1720*|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2			64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		ATGCAAAGAGCGATTCAAGAA	0.438000																								0							SO:0001587	stop_gained			ENST00000372899.1	0	1	hg19	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	47	12.963440	0.99709	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2902	20.3277	0.98707	0.0:1.0:0.0:0.0	.	.	.	.	X	1720	.	ENSP00000361990:R1720X	R	+	1	2	UBR2	42766779	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.985000	0.70556	2.879000	0.98667	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	1	70	391	0	68	1	1	45	111	0	68	2		0	0	0	0	0	2	1	1	70	388	0	68	2								-3.223797	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPH2	5961	broad.mit.edu	37	6	42666183	42666183	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42666183C>T	ENST00000230381.5	-	3	1130	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)			18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		TCTCAGATTCCTCGGGGTTGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000230381.5	1	1	hg19	CCDS4871.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	1	0	1	69	281	0	76	0	1.799254e-01	0	4	0	76	2		0	0	0	0	0	2	1	1	68	277	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBCC	6903	broad.mit.edu	37	6	42713042	42713042	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42713042G>A	ENST00000372876.1	-	1	792	c.770C>T	c.(769-771)gCc>gTc	p.A257V	TBCC_ENST00000244625.2_Missense_Mutation_p.A257V	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C			14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		CTGTTGGCAGGCCACTGCCAG	0.612000																								0							SO:0001583	missense			ENST00000372876.1	1	1	hg19	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173846	0.94807	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.87256	-2.23;-2.23	5.14	5.14	0.70334	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.121363	0.56097	D	0.000036	D	0.91513	0.7320	M	0.81942	2.565	0.58432	D	0.999994	P	0.52842	0.956	P	0.56916	0.809	D	0.91910	0.5539	10	0.59425	D	0.04	-10.8047	18.9802	0.92752	0.0:0.0:1.0:0.0	.	257	Q15814	TBCC_HUMAN	V	257	ENSP00000361967:A257V;ENSP00000244625:A257V	ENSP00000244625:A257V	A	-	2	0	TBCC	42821020	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.664000	0.98607	2.550000	0.86006	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	1	0	1	33	318	0	88	1	9.996646e-01	13	106	0	88	2		0	0	0	0	0	2	1	1	33	315	0	85	2								-3.318794	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.770000	1.000000	1.000000	0.970348	0.990000	1	9.100000e-01	1
PTCRA	171558	broad.mit.edu	37	6	42890844	42890844	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42890844C>T	ENST00000304672.1	+	2	219	c.138C>T	c.(136-138)gtC>gtT	p.V46V	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha			8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		TGGTGGTGGTCTGCCTGGTCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000304672.1	1	1	hg19	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253776	0.22965	2.27E-4	0.0	ENSG00000171611	ENST00000418903	.	.	.	5.84	-1.76	0.08006	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	5	0.87932	D	0	-24.9793	0.5962	0.00736	0.2505:0.3307:0.1223:0.2965	.	.	.	.	F	57	.	ENSP00000407061:S57F	S	+	2	0	PTCRA	42998822	0.950000	0.32346	0.983000	0.44433	0.959000	0.62525	-0.313000	0.08103	-0.353000	0.08224	-0.145000	0.13849	TCT		TCGA-IB-7651-01A-11D-2154-08	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	1	0	1	99	420	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	96	415	0	103	2								-20.000000	1	1	121412	2	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX6	5190	broad.mit.edu	37	6	42933437	42933437	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42933437G>T	ENST00000304611.8	-	13	2522	c.2453C>A	c.(2452-2454)tCt>tAt	p.S818Y	PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6			15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		CACTCCTCCAGAATCTCCACT	0.547000																								0							SO:0001583	missense			ENST00000304611.8	1	1	hg19	CCDS4877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870906|4.870906	0.91587|0.91587	.|.	.|.	ENSG00000124587|ENSG00000124587	ENST00000244546|ENST00000304611	D|D	0.95690|0.95272	-3.78|-3.66	5.76|5.76	5.76|5.76	0.90799|0.90799	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97498|0.97498	0.9181|0.9181	M|M	0.85859|0.85859	2.78|2.78	0.37998|0.37998	D|D	0.934132|0.934132	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98231|0.98231	1.0483|1.0483	7|10	0.44086|0.87932	T|D	0.13|0	-15.747|-15.747	19.5876|19.5876	0.95496|0.95496	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818	.|Q13608	.|PEX6_HUMAN	M|Y	736|818	ENSP00000244546:L736M|ENSP00000303511:S818Y	ENSP00000244546:L736M|ENSP00000303511:S818Y	L|S	-|-	1|2	2|0	PEX6|PEX6	43041415|43041415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.842000|9.842000	0.99487|0.99487	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CTG|TCT		TCGA-IB-7651-01A-11D-2154-08	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	1	0	1	273	1367	0	371	0	5.689597e-01	0	11	0	371	2		0	0	0	0	0	2	1	1	263	1302	0	363	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R5D	5528	broad.mit.edu	37	6	42974254	42974254	+	Silent	SNP	G	G	A	rs141996737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974254G>A	ENST00000485511.1	+	3	338	c.159G>A	c.(157-159)ccG>ccA	p.P53P	PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000394110.3_Silent_p.P53P	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta			25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		ctcagccACCGTCATCCAACA	0.612000													Melanoma(63;587 1613 29742 31770)											0							SO:0001819	synonymous_variant			ENST00000485511.1	1	1	hg19	CCDS4878.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	1	0	0	33	614	0	98	1	9.909281e-01	15	122	0	98	2		0	0	0	0	0	2	1	1	33	596	0	97	2								-5.910264	1	0	121408	6	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.590000	0.410000	0.800000	0.580000	0.604052	0.590000	0	4.900000e-01	7.000000e-01
KLHDC3	116138	broad.mit.edu	37	6	42986629	42986629	+	Silent	SNP	G	G	A	rs34597116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42986629G>A	ENST00000326974.4	+	8	1044	c.849G>A	c.(847-849)ccG>ccA	p.P283P	KLHDC3_ENST00000332245.8_Silent_p.P224P|RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000244670.8_Silent_p.P149P	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3			9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		AGATTGAACCGAAGGGGAAGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000326974.4	1	1	hg19	CCDS4880.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	1	0	1	128	610	0	107	1	1	45	178	0	107	2		0	0	0	0	0	2	1	1	122	598	0	104	2								-20.000000	1	1	121396	8	42	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL7	9820	broad.mit.edu	37	6	43005624	43005624	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43005624C>T	ENST00000265348.3	-	26	4984	c.4899G>A	c.(4897-4899)acG>acA	p.T1633T	CUL7_ENST00000535468.1_Silent_p.T1717T|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7			49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		GGCGTCTCAGCGTGCCCTTGC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000265348.3	1	1	hg19	CCDS4881.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1	26	120	0	24	1	9.999429e-01	17	59	0	24	2		0	0	0	0	0	2	1	1	26	118	0	24	2								-16.587430	1	1	121412	5	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999961	0.990000	1	9.900000e-01	1
CUL7	9820	broad.mit.edu	37	6	43006104	43006104	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006104C>A	ENST00000265348.3	-	25	4759	c.4674G>T	c.(4672-4674)caG>caT	p.Q1558H	CUL7_ENST00000535468.1_Missense_Mutation_p.Q1642H|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7			49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		TCTCCAAGTTCTGGCCGTCTT	0.552000																								0							SO:0001583	missense			ENST00000265348.3	1	1	hg19	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191752	0.38707	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79141	-1.24;-1.24	5.29	1.42	0.22433	.	0.268668	0.34932	N	0.003570	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30709	0.25;0.291;0.162;0.0	B;B;B;B	0.30401	0.115;0.054;0.054;0.0	T	0.17501	-1.0367	10	0.54805	T	0.06	-10.2372	2.5613	0.04772	0.1212:0.4429:0.2375:0.1984	.	1642;1558;1642;1558	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	H	1558;1642	ENSP00000265348:Q1558H;ENSP00000438788:Q1642H	ENSP00000265348:Q1558H	Q	-	3	2	CUL7	43114082	0.010000	0.17322	0.997000	0.53966	0.959000	0.62525	-0.314000	0.08092	0.592000	0.29728	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1	62	272	0	55	1	9.999889e-01	7	69	0	55	2		0	0	0	0	0	2	1	1	62	267	0	55	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL7	9820	broad.mit.edu	37	6	43006154	43006154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006154G>A	ENST00000265348.3	-	25	4709	c.4624C>T	c.(4624-4626)Cgg>Tgg	p.R1542W	CUL7_ENST00000535468.1_Missense_Mutation_p.R1626W|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7			49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		GGGATGAGCCGCACAATGTCC	0.542000																								0							SO:0001583	missense			ENST00000265348.3	1	1	hg19	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284334	0.23392	0.0	2.33E-4	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79554	-1.28;-1.28	5.18	2.85	0.33270	Cullin homology (1);	0.596147	0.19181	N	0.120665	T	0.23688	0.0573	N	0.01048	-1.04	0.30040	N	0.812671	B;B;B;B	0.11235	0.001;0.004;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.14254	-1.0479	10	0.16420	T	0.52	-8.6898	3.0282	0.06098	0.5254:0.0:0.2822:0.1924	.	1626;1542;1626;1542	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	W	1542;1626	ENSP00000265348:R1542W;ENSP00000438788:R1626W	ENSP00000265348:R1542W	R	-	1	2	CUL7	43114132	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.931000	0.28871	0.819000	0.34492	-0.302000	0.09304	CGG		TCGA-IB-7651-01A-11D-2154-08	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1	70	285	0	74	1	9.999929e-01	16	57	0	74	2		0	0	0	0	0	2	1	1	69	280	0	72	2								-3.049057	1	0	121412	5	40	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL7	9820	broad.mit.edu	37	6	43015930	43015930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43015930C>T	ENST00000265348.3	-	9	2210	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.D793N			Q14999	CUL7_HUMAN	cullin 7			49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		ATGCAGGCATCCACGGCCTCG	0.642000																								0							SO:0001583	missense			ENST00000265348.3	1	1	hg19	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665082	0.67700	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65549	-0.16;-0.16	4.19	2.13	0.27403	Armadillo-like helical (1);	0.282093	0.38605	N	0.001636	T	0.33059	0.0850	L	0.36672	1.1	0.80722	D	1	B;B	0.31548	0.328;0.311	B;B	0.34242	0.178;0.15	T	0.21381	-1.0247	10	0.41790	T	0.15	-21.882	7.6878	0.28550	0.1593:0.7418:0.0:0.0989	.	793;709	F5H0L1;Q14999	.;CUL7_HUMAN	N	709;793	ENSP00000265348:D709N;ENSP00000438788:D793N	ENSP00000265348:D709N	D	-	1	0	CUL7	43123908	1.000000	0.71417	0.950000	0.38849	0.925000	0.55904	3.089000	0.50183	1.044000	0.40200	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1	51	215	0	59	1	9.994103e-01	10	40	0	59	2		0	0	0	0	0	2	1	1	49	208	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL7	9820	broad.mit.edu	37	6	43016152	43016152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43016152G>A	ENST00000265348.3	-	8	2066	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.R745W			Q14999	CUL7_HUMAN	cullin 7			49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		TGCGGCTGCCGCTGCAGCTGC	0.597000																								0							SO:0001583	missense			ENST00000265348.3	1	1	hg19	CCDS4881.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	16.85	3.236478	0.58886	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.66099	-0.19;-0.19	4.89	-0.649	0.11461	Armadillo-like helical (1);	3.182340	0.00481	N	0.000140	T	0.40347	0.1113	N	0.22421	0.69	0.39262	D	0.964222	D;D	0.61697	0.987;0.99	P;P	0.51701	0.555;0.677	T	0.18840	-1.0324	10	0.87932	D	0	-13.2376	4.3319	0.11067	0.079:0.1285:0.2622:0.5303	.	745;661	F5H0L1;Q14999	.;CUL7_HUMAN	W	661;745	ENSP00000265348:R661W;ENSP00000438788:R745W	ENSP00000265348:R661W	R	-	1	2	CUL7	43124130	0.001000	0.12720	0.739000	0.30968	0.872000	0.50106	-0.148000	0.10219	-0.379000	0.07906	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1	227	1046	0	258	1	9.951827e-01	4	35	0	258	2		0	0	0	0	0	2	1	1	218	1005	0	230	2								-20.000000	1	1	121320	5	44	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL7	9820	broad.mit.edu	37	6	43017878	43017878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43017878C>T	ENST00000265348.3	-	6	1477	c.1392G>A	c.(1390-1392)tgG>tgA	p.W464*	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Nonsense_Mutation_p.W548*			Q14999	CUL7_HUMAN	cullin 7			49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		TCATGGGCCTCCAGCGCCAGG	0.577000																								0							SO:0001587	stop_gained			ENST00000265348.3	0	1	hg19	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	37	6.253305	0.97417	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.12	5.12	0.69794	.	0.258920	0.41097	D	0.000948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9001	13.3299	0.60480	0.0:0.7068:0.2932:0.0	.	.	.	.	X	464;548	.	ENSP00000265348:W464X	W	-	3	0	CUL7	43125856	.	.	1.000000	0.80357	0.637000	0.38172	.	.	2.395000	0.81488	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	0	0	0	24	532	0	101	0	7.697299e-01	1	63	0	101	2		0	0	0	0	0	2	1	9.999995e-01	24	510	0	98	2								-4.809983	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.500000	0.330000	0.710000	0.500000	0.515909	0.500000	0	4.100000e-01	6.100000e-01
CUL7	9820	broad.mit.edu	37	6	43020447	43020447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43020447C>T	ENST00000265348.3	-	2	165	c.80G>A	c.(79-81)cGc>cAc	p.R27H	CUL7_ENST00000535468.1_Missense_Mutation_p.R79H			Q14999	CUL7_HUMAN	cullin 7			49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		CACGCGCTGGCGGATCAGCTC	0.637000																								0							SO:0001583	missense			ENST00000265348.3	1	1	hg19	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112437	0.94339	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.85484	-1.95;-1.99	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.89366	0.3671	10	0.87932	D	0	-1.0124	16.2712	0.82622	0.0:0.8676:0.1324:0.0	.	79;27	F5H0L1;Q14999	.;CUL7_HUMAN	H	27;79	ENSP00000265348:R27H;ENSP00000438788:R79H	ENSP00000265348:R27H	R	-	2	0	CUL7	43128425	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.828000	0.69307	2.739000	0.93911	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	1	0	1	75	310	0	80	1	9.995704e-01	16	34	0	80	2		0	0	0	0	0	2	1	1	74	303	0	80	2								-3.554723	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTK7	5754	broad.mit.edu	37	6	43097480	43097480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43097480C>A	ENST00000230419.4	+	3	604	c.383C>A	c.(382-384)cCt>cAt	p.P128H	PTK7_ENST00000481273.1_Missense_Mutation_p.P136H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H|PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000471863.1_Missense_Mutation_p.P128H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7			46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		GAGGCAGGTCCTGTGGTCCTG	0.612000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000230419.4	1	1	hg19	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068967	0.76301	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.53	5.53	0.82687	Immunoglobulin-like (1);	0.279534	0.39146	N	0.001457	T	0.70815	0.3267	M	0.89968	3.075	0.30688	N	0.751661	B;D;P;D;D;D	0.89917	0.116;0.993;0.94;0.978;0.973;1.0	B;P;P;P;P;D	0.80764	0.063;0.854;0.717;0.854;0.852;0.994	T	0.73503	-0.3962	10	0.72032	D	0.01	.	14.0021	0.64439	0.0:0.7268:0.2732:0.0	.	136;128;128;128;128;128	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	128;128;128;128;128;136;136	ENSP00000230419:P128H;ENSP00000419037:P128H;ENSP00000325462:P128H;ENSP00000326029:P128H;ENSP00000325992:P128H;ENSP00000418754:P136H	ENSP00000230418:P128H	P	+	2	0	PTK7	43205458	0.011000	0.17503	0.996000	0.52242	0.989000	0.77384	1.593000	0.36686	2.596000	0.87737	0.462000	0.41574	CCT		TCGA-IB-7651-01A-11D-2154-08	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2	1	0	1	42	273	0	82	1	9.999999e-01	4	164	0	82	2		0	0	0	0	0	2	1	1	42	271	0	79	2								-2.967129	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999862	0.990000	1	9.900000e-01	1
PTK7	5754	broad.mit.edu	37	6	43113120	43113120	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43113120C>T	ENST00000230419.4	+	16	2811	c.2590C>T	c.(2590-2592)Ctg>Ttg	p.L864L	PTK7_ENST00000481273.1_Silent_p.L872L|PTK7_ENST00000345201.2_Silent_p.L824L|PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000352931.2_Silent_p.L808L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7			46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		GCTCCTGGGGCTGTGCCGGGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000230419.4	1	1	hg19	CCDS4884.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2	1	0	1	78	312	0	58	1	1	11	278	0	58	2		0	0	0	0	0	2	1	1	74	309	0	57	2								-3.009311	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL9	23113	broad.mit.edu	37	6	43152468	43152468	+	Silent	SNP	C	C	T	rs146357794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43152468C>T	ENST00000252050.4	+	2	504	c.420C>T	c.(418-420)gcC>gcT	p.A140A	CUL9_ENST00000354495.3_Silent_p.A140A|CUL9_ENST00000372647.2_Silent_p.A140A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9			92					GCCTCACGGCCGCTGTGCTTC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000252050.4	1	1	hg19	CCDS4890.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	1	0	1	92	427	0	93	1	9.627938e-01	7	20	0	93	2		0	0	0	0	0	2	1	1	91	421	0	93	2								-3.189634	1	1	121412	17	46	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL9	23113	broad.mit.edu	37	6	43155466	43155466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43155466G>A	ENST00000252050.4	+	7	1681	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	CUL9_ENST00000354495.3_Missense_Mutation_p.A423T|CUL9_ENST00000372647.2_Missense_Mutation_p.A533T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9			92					GGGTGAAAAGGCCCTAGGTGA	0.517000																								0							SO:0001583	missense			ENST00000252050.4	0	1	hg19	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899556	0.33535	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73681	-0.77;-0.71;-0.67	5.61	2.82	0.32997	.	0.786770	0.12384	N	0.473642	T	0.49321	0.1550	L	0.50333	1.59	0.36224	D	0.852169	B;B;B	0.12630	0.004;0.004;0.006	B;B;B	0.10450	0.002;0.002;0.005	T	0.34030	-0.9845	10	0.40728	T	0.16	-7.4482	7.3	0.26415	0.1366:0.0:0.7271:0.1363	.	533;533;533	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	T	533;423;533	ENSP00000252050:A533T;ENSP00000346490:A423T;ENSP00000361730:A533T	ENSP00000252050:A533T	A	+	1	0	CUL9	43263444	0.001000	0.12720	0.336000	0.25522	0.711000	0.40976	0.341000	0.19909	0.292000	0.22492	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	0	0	0	14	616	0	129	0	9.775331e-02	1	21	0	129	2		0	0	0	0	0	2	1	9.997208e-01	14	604	0	129	2								-2.845033	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.260000	0.140000	0.410000	0.260000	0.273607	0.260000	0	1.900000e-01	3.400000e-01
CUL9	23113	broad.mit.edu	37	6	43182887	43182887	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43182887C>T	ENST00000252050.4	+	30	5843	c.5759C>T	c.(5758-5760)gCc>gTc	p.A1920V	CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9			92					GGGGGTGTGGCCTGTACCAGT	0.577000																								0							SO:0001583	missense			ENST00000252050.4	1	1	hg19	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818911	0.50633	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73152	-0.72;-0.72;-0.62	5.11	3.22	0.36961	Cullin protein, neddylation domain (1);	0.807022	0.11802	N	0.528084	T	0.44603	0.1301	L	0.43152	1.355	0.29803	N	0.832275	P;B;B	0.45827	0.867;0.09;0.079	B;B;B	0.39027	0.288;0.028;0.021	T	0.42932	-0.9422	10	0.72032	D	0.01	-8.4531	6.4064	0.21666	0.0:0.5913:0.304:0.1047	.	1810;1892;1920	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	V	1920;1810;1892	ENSP00000252050:A1920V;ENSP00000346490:A1810V;ENSP00000361730:A1892V	ENSP00000252050:A1920V	A	+	2	0	CUL9	43290865	0.910000	0.30920	0.999000	0.59377	0.733000	0.41908	0.174000	0.16743	2.377000	0.81083	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	1	0	1	138	582	0	122	1	9.912947e-01	9	24	0	122	2		0	0	0	0	0	2	1	1	134	570	0	121	2								-20.000000	1	1	121412	3	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTBK1	84630	broad.mit.edu	37	6	43250511	43250511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43250511C>T	ENST00000259750.4	+	14	2116	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1			53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		CTCCCACGAGCTGTGCCTCTG	0.627000																								0							SO:0001583	missense			ENST00000259750.4	1	1	hg19	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561581	0.27915	.	.	ENSG00000146216	ENST00000259750	T	0.50813	0.73	4.27	3.39	0.38822	.	0.517766	0.18275	N	0.146196	T	0.13457	0.0326	N	0.25647	0.755	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.07888	-1.0749	10	0.17832	T	0.49	.	6.3882	0.21572	0.0:0.6956:0.0:0.3044	.	678	Q5TCY1	TTBK1_HUMAN	V	678	ENSP00000259750:A678V	ENSP00000259750:A678V	A	+	2	0	TTBK1	43358489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.835000	0.39181	0.775000	0.33450	-0.300000	0.09419	GCT		TCGA-IB-7651-01A-11D-2154-08	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3	1	0	1	131	652	0	154		0	0	0	0	154	2		0	0	0	0	0	2	1	1	128	643	0	154	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTBK1	84630	broad.mit.edu	37	6	43251286	43251286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43251286A>C	ENST00000259750.4	+	14	2891	c.2808A>C	c.(2806-2808)aaA>aaC	p.K936N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1			53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		TTGCGGAGAAAACCCACCTCA	0.637000																								0							SO:0001583	missense			ENST00000259750.4	1	1	hg19	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074841	0.55646	.	.	ENSG00000146216	ENST00000259750	T	0.57273	0.41	5.14	2.48	0.30137	.	0.073927	0.53938	D	0.000057	T	0.40196	0.1107	L	0.50333	1.59	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	T	0.35450	-0.9788	10	0.66056	D	0.02	.	7.7415	0.28843	0.6333:0.0:0.3667:0.0	.	936	Q5TCY1	TTBK1_HUMAN	N	936	ENSP00000259750:K936N	ENSP00000259750:K936N	K	+	3	2	TTBK1	43359264	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.055000	0.30467	0.190000	0.20209	0.379000	0.24179	AAA		TCGA-IB-7651-01A-11D-2154-08	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3	0	0	0	14	466	0	101	0	0	0	1	0	101	2		0	0	0	0	0	2	1	9.997349e-01	14	459	0	100	2								-13.409500	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.340000	0.190000	0.540000	0.340000	0.357816	0.340000	0	2.600000e-01	4.400000e-01
SLC22A7	10864	broad.mit.edu	37	6	43266443	43266443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43266443G>A	ENST00000372585.5	+	1	442	c.347G>A	c.(346-348)gGc>gAc	p.G116D	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7			26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)	Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGCTCTCAGGGCTGGGAGTAC	0.572000																								0							SO:0001583	missense			ENST00000372585.5	1	1	hg19	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392893	0.83011	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.63	4.76	0.60689	Major facilitator superfamily domain (1);	0.105475	0.64402	D	0.000004	T	0.66567	0.2802	M	0.90595	3.13	0.49915	D	0.999835	D;D;D	0.61697	0.99;0.987;0.987	D;D;D	0.71414	0.973;0.954;0.954	T	0.75897	-0.3155	10	0.87932	D	0	.	13.7614	0.62968	0.0:0.0:0.8451:0.1549	.	116;116;116	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	D	116	ENSP00000411818:G116D;ENSP00000361670:G116D;ENSP00000361666:G116D;ENSP00000361655:G116D	ENSP00000361655:G116D	G	+	2	0	SLC22A7	43374421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.944000	0.70219	1.361000	0.45981	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1	1	0	1	52	219	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	50	214	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF318	24149	broad.mit.edu	37	6	43305331	43305331	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305331C>T	ENST00000361428.2	-	10	6482	c.6405G>A	c.(6403-6405)atG>atA	p.M2135I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318			61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		CTTCCTCAGGCATCATTCCTC	0.458000																								0							SO:0001583	missense			ENST00000361428.2	1	1	hg19	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379689	0.42207	.	.	ENSG00000171467	ENST00000361428	T	0.11063	2.81	6.08	5.2	0.72013	.	0.178249	0.40385	N	0.001120	T	0.03220	0.0094	L	0.27053	0.805	0.80722	D	1	B	0.24920	0.114	B	0.21708	0.036	T	0.27971	-1.0058	10	0.48119	T	0.1	-7.5726	6.961	0.24597	0.0:0.826:0.0:0.174	.	2135	Q5VUA4	ZN318_HUMAN	I	2135	ENSP00000354964:M2135I	ENSP00000354964:M2135I	M	-	3	0	ZNF318	43413309	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.650000	0.24858	2.894000	0.99253	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	1	0	1	35	182	0	56	1	9.726968e-01	13	20	0	56	2		0	0	0	0	0	2	1	1	33	178	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
ZNF318	24149	broad.mit.edu	37	6	43305593	43305593	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305593G>A	ENST00000361428.2	-	10	6220	c.6143C>T	c.(6142-6144)tCt>tTt	p.S2048F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318			61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		AGGTGATACAGAATTTTCTTC	0.468000																								0							SO:0001583	missense			ENST00000361428.2	1	1	hg19	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959432	0.18507	.	.	ENSG00000171467	ENST00000361428	T	0.12774	2.65	5.2	3.27	0.37495	.	0.501221	0.19661	N	0.108975	T	0.10252	0.0251	L	0.32530	0.975	0.44485	D	0.99742	D	0.57571	0.98	P	0.56700	0.804	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.6027	8.6883	0.34251	0.1987:0.0:0.8013:0.0	.	2048	Q5VUA4	ZN318_HUMAN	F	2048	ENSP00000354964:S2048F	ENSP00000354964:S2048F	S	-	2	0	ZNF318	43413571	1.000000	0.71417	0.884000	0.34674	0.096000	0.18686	1.868000	0.39509	1.432000	0.47375	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	1	0	1	58	256	0	61	1	9.998176e-01	21	38	0	61	2		0	0	0	0	0	2	1	1	59	245	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF318	24149	broad.mit.edu	37	6	43305786	43305786	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305786C>T	ENST00000361428.2	-	10	6027	c.5950G>A	c.(5950-5952)Gat>Aat	p.D1984N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318			61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		GGATGGACATCTTGTAGCTCC	0.453000																								0							SO:0001583	missense			ENST00000361428.2	1	1	hg19	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240561	0.10023	.	.	ENSG00000171467	ENST00000361428	T	0.12255	2.7	6.08	2.36	0.29203	.	0.778709	0.11980	N	0.510918	T	0.03390	0.0098	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.33620	0.167	T	0.39722	-0.9600	10	0.46703	T	0.11	-1.15	8.5349	0.33357	0.0:0.6238:0.0:0.3762	.	1984	Q5VUA4	ZN318_HUMAN	N	1984	ENSP00000354964:D1984N	ENSP00000354964:D1984N	D	-	1	0	ZNF318	43413764	0.000000	0.05858	0.008000	0.14137	0.249000	0.25844	-0.323000	0.07997	0.471000	0.27319	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	0	0	1	95	486	0	115	1	9.995207e-01	7	52	0	115	2		0	0	0	0	0	2	1	1	93	477	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF318	24149	broad.mit.edu	37	6	43305787	43305787	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305787T>C	ENST00000361428.2	-	10	6026	c.5949A>G	c.(5947-5949)caA>caG	p.Q1983Q	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318			61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		GATGGACATCTTGTAGCTCCA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000361428.2	1	1	hg19	CCDS4895.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	1	0	1	143	440	0	116	1	9.999975e-01	27	32	0	116	2		0	0	0	0	0	2	1	1	141	431	0	116	2								-20.000000	1	1	121412	1	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF318	24149	broad.mit.edu	37	6	43307732	43307732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43307732G>T	ENST00000361428.2	-	10	4081	c.4004C>A	c.(4003-4005)cCt>cAt	p.P1335H	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318			61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		AGGCATCCAAGGGCTGGTATG	0.478000																								0							SO:0001583	missense			ENST00000361428.2	1	1	hg19	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880334	0.51801	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	.	0.091491	0.48286	D	0.000183	T	0.55337	0.1914	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58411	-0.7641	10	0.59425	D	0.04	-7.3954	15.3144	0.74062	0.0:0.1393:0.8607:0.0	.	1335	Q5VUA4	ZN318_HUMAN	H	1335	ENSP00000354964:P1335H	ENSP00000354964:P1335H	P	-	2	0	ZNF318	43415710	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.178000	0.77657	2.683000	0.91414	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	0	0	1	123	504	1	125	1	9.618025e-01	8	16	1	125	2		0	0	0	0	0	2	1	1	122	494	1	124	17								-3.203766	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF318	24149	broad.mit.edu	37	6	43308239	43308239	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43308239T>G	ENST00000361428.2	-	10	3574	c.3497A>C	c.(3496-3498)aAa>aCa	p.K1166T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318			61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		ATCCACATATTTCTGGGAAGA	0.448000																								0							SO:0001630	splice_region_variant			ENST00000361428.2	0	1	hg19	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172794	0.57584	.	.	ENSG00000171467	ENST00000361428	T	0.55052	0.54	5.69	5.69	0.88448	Zinc finger, U1-type (1);	0.118294	0.56097	D	0.000028	T	0.65344	0.2682	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69971	-0.5000	10	0.72032	D	0.01	-9.9518	15.9526	0.79855	0.0:0.0:0.0:1.0	.	1166	Q5VUA4	ZN318_HUMAN	T	1166	ENSP00000354964:K1166T	ENSP00000354964:K1166T	K	-	2	0	ZNF318	43416217	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.399000	0.59703	2.168000	0.68352	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	0	0	0	22	182	0	47	1	9.462555e-01	7	36	0	47	2		0	0	0	0	0	2	1	9.999990e-01	22	179	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.810000	1.000000	1.000000	0.985563	0.990000	1	9.900000e-01	1
ZNF318	24149	broad.mit.edu	37	6	43324962	43324962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43324962C>A	ENST00000361428.2	-	3	1167	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318			61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		AAAGAATATCCTGGCTCCGAT	0.512000																								0							SO:0001587	stop_gained			ENST00000361428.2	0	1	hg19	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	37	6.181517	0.97352	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	5.64	0.86602	.	0.175232	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.6293	13.5617	0.61793	0.0:0.7976:0.2024:0.0	.	.	.	.	X	364	.	ENSP00000323032:G364X	G	-	1	0	ZNF318	43432940	0.992000	0.36948	1.000000	0.80357	0.972000	0.66771	3.062000	0.49971	2.663000	0.90544	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	1	0	1	69	319	0	86	1	9.974306e-01	12	32	0	86	2		0	0	0	0	0	2	1	1	67	309	0	84	2								-2.989396	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC10	89845	broad.mit.edu	37	6	43400035	43400035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400035G>A	ENST00000372530.4	+	3	532	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.C63Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10			56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TTGGCAGGGTGCGTGGCAGCT	0.637000																								0							SO:0001583	missense			ENST00000372530.4	0	1	hg19	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207194	0.22205	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.38560	1.13;1.13	5.94	4.12	0.48240	.	0.099265	0.64402	D	0.000001	T	0.12774	0.0310	N	0.14661	0.345	0.34038	D	0.654614	P;P	0.42649	0.786;0.681	B;B	0.44044	0.439;0.254	T	0.08659	-1.0711	10	0.02654	T	1	-1.4033	16.6428	0.85130	0.0:0.2452:0.7548:0.0	.	63;106	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	106;63	ENSP00000361608:C106Y;ENSP00000244533:C63Y	ENSP00000244533:C63Y	C	+	2	0	ABCC10	43508013	1.000000	0.71417	0.815000	0.32552	0.020000	0.10135	6.256000	0.72473	0.810000	0.34279	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	0	0	0	10	448	0	86	1	7.793290e-02	2	17	0	86	2		0	0	0	0	0	2	1	9.967367e-01	10	442	0	86	2								-9.088138	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.260000	0.130000	0.440000	0.260000	0.274803	0.260000	0	1.800000e-01	3.500000e-01
ABCC10	89845	broad.mit.edu	37	6	43400424	43400424	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400424G>T	ENST00000372530.4	+	3	921	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.G193W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10			56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GCTGGCCCGTGGGGCCTGTGG	0.637000																								0							SO:0001583	missense			ENST00000372530.4	1	1	hg19	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458568	0.84317	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.95690	-3.78;-3.66	5.54	5.54	0.83059	.	0.056809	0.64402	D	0.000001	D	0.96156	0.8747	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96918	0.9672	10	0.87932	D	0	-37.4308	19.4753	0.94985	0.0:0.0:1.0:0.0	.	193;236	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	236;193	ENSP00000361608:G236W;ENSP00000244533:G193W	ENSP00000244533:G193W	G	+	1	0	ABCC10	43508402	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.799000	0.99117	2.607000	0.88179	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	1	0	1	85	388	0	81	1	9.584887e-01	8	18	0	81	2		0	0	0	0	0	2	1	1	83	382	0	80	2								-3.142447	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCC10	89845	broad.mit.edu	37	6	43400442	43400442	+	Missense_Mutation	SNP	C	C	T	rs147197045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400442C>T	ENST00000372530.4	+	3	939	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.R199W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10			56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGGAGAGCTCCGGCAGCCTCA	0.637000																								0							SO:0001583	missense			ENST00000372530.4	1	1	hg19	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754339	0.49362	0.0	1.16E-4	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91124	-2.78;-2.79	5.54	4.66	0.58398	.	0.660669	0.16213	N	0.224391	D	0.83069	0.5174	N	0.24115	0.695	0.09310	N	0.999999	D;D	0.64830	0.994;0.978	P;B	0.51229	0.663;0.232	T	0.78306	-0.2255	10	0.72032	D	0.01	-34.6797	13.566	0.61819	0.4012:0.5988:0.0:0.0	.	199;242	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	242;199	ENSP00000361608:R242W;ENSP00000244533:R199W	ENSP00000244533:R199W	R	+	1	2	ABCC10	43508420	0.980000	0.34600	0.973000	0.42090	0.700000	0.40528	2.161000	0.42358	1.316000	0.45131	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	0	0	0	10	405	0	66	1	2.274881e-01	3	31	0	66	2		0	0	0	0	0	2	1	9.966864e-01	10	398	0	64	2								-3.014114	1	0	121412	2	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.280000	0.140000	0.480000	0.280000	0.302777	0.280000	0	2.000000e-01	3.900000e-01
ABCC10	89845	broad.mit.edu	37	6	43417778	43417778	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43417778G>A	ENST00000372530.4	+	22	4643	c.4428G>A	c.(4426-4428)caG>caA	p.Q1476Q	ABCC10_ENST00000244533.3_Silent_p.Q1448Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	p.Q1448H(1)		56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGTTCCAGCAGCTGCTGCAGA	0.652000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000372530.4	1	1	hg19	CCDS56430.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	1	0	1	35	477	0	107	1	9.223522e-01	17	44	0	107	2		0	0	0	0	0	2	1	1	35	463	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.790000	0.560000	1.000000	1.000000	0.800861	0.790000	0	6.700000e-01	9.300000e-01
DLK2	65989	broad.mit.edu	37	6	43418966	43418966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43418966C>T	ENST00000357338.3	-	6	1163	c.463G>A	c.(463-465)Gct>Act	p.A155T	DLK2_ENST00000372488.3_Missense_Mutation_p.A155T|DLK2_ENST00000372485.1_Missense_Mutation_p.A149T|DLK2_ENST00000414245.1_Missense_Mutation_p.A149T	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)			7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		AAGTTGAGAGCAAAGCCCTGG	0.592000																								0							SO:0001583	missense			ENST00000357338.3	0	1	hg19	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010763	0.93346	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.51	4.51	0.55191	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.37800	1.135	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	D	0.88787	0.3275	10	0.49607	T	0.09	.	17.7506	0.88432	0.0:1.0:0.0:0.0	.	155	Q6UY11	DLK2_HUMAN	T	149;155;155;149	ENSP00000361563:A149T;ENSP00000361566:A155T;ENSP00000349893:A155T;ENSP00000398906:A149T	ENSP00000349893:A155T	A	-	1	0	DLK2	43526944	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.355000	0.79434	2.507000	0.84556	0.455000	0.32223	GCT		TCGA-IB-7651-01A-11D-2154-08	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	0	0	0	7	184	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	9.808451e-01	7	183	0	39	2								-9.214063	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.440000	0.190000	0.800000	0.410000	0.468358	0.440000	0	3.000000e-01	6.200000e-01
DLK2	65989	broad.mit.edu	37	6	43420813	43420813	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43420813C>A	ENST00000357338.3	-	4	901	c.201G>T	c.(199-201)caG>caT	p.Q67H	DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H|DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H|DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)			7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		AGGTACCGTGCTGGCAGCCAG	0.632000																								0							SO:0001583	missense			ENST00000357338.3	1	1	hg19	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.457599|3.457599	0.63401|0.63401	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245|ENST00000430324	D;T;T;D|.	0.89875|.	-2.58;-0.23;-0.23;-2.58|.	4.72|4.72	3.85|3.85	0.44370|0.44370	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.488214|.	0.20090|.	N|.	0.099473|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.20328|0.20328	0.56|0.56	0.37571|0.37571	D|D	0.919444|0.919444	P|.	0.52316|.	0.952|.	B|.	0.42163|.	0.378|.	T|T	0.06445|0.06445	-1.0826|-1.0826	10|5	0.42905|.	T|.	0.14|.	.|.	4.6506|4.6506	0.12592|0.12592	0.1278:0.4869:0.3006:0.0847|0.1278:0.4869:0.3006:0.0847	.|.	67|.	Q6UY11|.	DLK2_HUMAN|.	H|I	67|4	ENSP00000361563:Q67H;ENSP00000361566:Q67H;ENSP00000349893:Q67H;ENSP00000398906:Q67H|.	ENSP00000349893:Q67H|.	Q|S	-|-	3|2	2|0	DLK2|DLK2	43528791|43528791	0.860000|0.860000	0.29831|0.29831	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	-0.042000|-0.042000	0.12063|0.12063	1.115000|1.115000	0.41800|0.41800	-0.350000|-0.350000	0.07774|0.07774	CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	1	0	1	58	190	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	54	167	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YIPF3	25844	broad.mit.edu	37	6	43480031	43480031	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480031G>T	ENST00000372422.2	-	9	1109	c.927C>A	c.(925-927)ggC>ggA	p.G309G	YIPF3_ENST00000506469.1_Silent_p.G315G|LRRC73_ENST00000372441.1_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3			9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		GGATGTTGGGGCCCTCCAGTG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000372422.2	1	1	hg19	CCDS4899.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	1	0	1	87	395	0	94	1	1	217	528	0	94	2		0	0	0	0	0	2	1	1	86	387	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YIPF3	25844	broad.mit.edu	37	6	43480841	43480841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480841G>A	ENST00000372422.2	-	6	814	c.632C>T	c.(631-633)gCc>gTc	p.A211V	YIPF3_ENST00000506469.1_Missense_Mutation_p.A217V|LRRC73_ENST00000372441.1_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3			9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		GGTGATCTGGGCGTTGCACAG	0.567000																								0							SO:0001583	missense			ENST00000372422.2	1	1	hg19	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590806	0.66219	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469	T;T	0.44482	0.92;0.92	5.62	4.75	0.60458	.	0.050002	0.85682	D	0.000000	T	0.26557	0.0649	L	0.43152	1.355	0.80722	D	1	P;B;P;B	0.42296	0.775;0.06;0.573;0.06	B;B;B;B	0.41412	0.356;0.028;0.14;0.028	T	0.04678	-1.0934	10	0.44086	T	0.13	-23.0835	13.9454	0.64082	0.0726:0.0:0.9274:0.0	.	160;217;176;211	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	V	211;160;217	ENSP00000361499:A211V;ENSP00000425494:A217V	ENSP00000361499:A211V	A	-	2	0	YIPF3	43588819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	2.653000	0.90120	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	0	0	0	21	828	0	170	1	9.999945e-01	31	757	0	170	2		0	0	0	0	0	2	1	9.999970e-01	21	815	0	168	2								-15.835200	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.280000	0.180000	0.420000	0.280000	0.298665	0.280000	0	2.300000e-01	3.600000e-01
POLH	5429	broad.mit.edu	37	6	43565513	43565513	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43565513A>G	ENST00000372236.4	+	5	866	c.571A>G	c.(571-573)Acc>Gcc	p.T191A	POLH_ENST00000535400.1_Missense_Mutation_p.T129A|POLH_ENST00000372226.1_Missense_Mutation_p.T191A	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta			21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		CCTGCAGCTCACCGTGGGAGC	0.458000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum															0							SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000372236.4	1	1	hg19	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	A	5.086	0.201592	0.09652	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.70045	-0.45;-0.45;-0.45	5.4	5.4	0.78164	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.282328	0.40385	N	0.001111	T	0.13243	0.0321	N	0.00621	-1.32	0.39626	D	0.970104	B;B	0.12630	0.002;0.006	B;B	0.12837	0.005;0.008	T	0.33085	-0.9882	10	0.08381	T	0.77	-32.9496	9.0597	0.36427	0.9162:0.0:0.0838:0.0	.	129;191	B4DG64;Q9Y253	.;POLH_HUMAN	A	191;129;191	ENSP00000361310:T191A;ENSP00000442102:T129A;ENSP00000361300:T191A	ENSP00000361300:T191A	T	+	1	0	POLH	43673491	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.911000	0.48774	2.051000	0.60960	0.467000	0.42956	ACC		TCGA-IB-7651-01A-11D-2154-08	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	1	0	1	64	324	0	78	1	9.966247e-01	11	35	0	78	2		0	0	0	0	0	2	1	1	64	321	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RSPH9	221421	broad.mit.edu	37	6	43638647	43638647	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43638647C>T	ENST00000372163.4	+	5	845	c.792C>T	c.(790-792)ggC>ggT	p.G264G	RSPH9_ENST00000372165.4_Missense_Mutation_p.H282Y	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)			12					TCTACGTGGGCACTGGCGAGA	0.532000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000372163.4	1	1	hg19	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104727	0.77096	.	.	ENSG00000172426	ENST00000372165	.	.	.	5.97	5.11	0.69529	.	0.475237	0.26082	N	0.026444	T	0.42268	0.1195	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	T	0.49969	-0.8882	8	0.87932	D	0	-0.498	13.149	0.59478	0.0:0.9227:0.0:0.0773	.	282	Q96NH9	.	Y	282	.	ENSP00000361238:H282Y	H	+	1	0	RSPH9	43746625	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.430000	0.34914	1.536000	0.49237	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	1	0	1	56	225	0	53	1	4.987369e-01	2	6	0	53	2		0	0	0	0	0	2	1	1	56	221	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM63B	55362	broad.mit.edu	37	6	44116249	44116249	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44116249G>T	ENST00000259746.9	+	14	1304		c.e14-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B			35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		CATCTTTCTAGCATCCTGAAG	0.622000																								0							SO:0001630	splice_region_variant			ENST00000259746.9	1	1	hg19	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153572	0.57259	.	.	ENSG00000137216	ENST00000259746;ENST00000323267;ENST00000371893	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1371	0.81494	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM63B	44224227	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.663000	0.83820	2.280000	0.76307	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	1	0	1	90	464	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	88	455	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPN11	11131	broad.mit.edu	37	6	44148732	44148732	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44148732G>A	ENST00000398776.1	+	18	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D623N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11			36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		CAACCTCATGGATGTATCCTC	0.592000																								0							SO:0001583	missense			ENST00000398776.1	1	1	hg19	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	g	34	5.303276	0.95601	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.95949	-3.86;-3.86	5.01	5.01	0.66863	EF-hand-like domain (1);	0.000000	0.47455	D	0.000228	D	0.98896	0.9626	H	0.99169	4.455	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	17.4776	0.87664	0.0:0.0:1.0:0.0	.	277;623	B4DT90;Q9UMQ6	.;CAN11_HUMAN	N	623	ENSP00000381758:D623N;ENSP00000441078:D623N	ENSP00000381758:D623N	D	+	1	0	CAPN11	44256710	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.616000	0.98359	2.611000	0.88343	0.493000	0.49557	GAT		TCGA-IB-7651-01A-11D-2154-08	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3	1	0	1	187	866	0	214	1	9.419924e-01	2	22	0	214	2		0	0	0	0	0	2	1	1	180	843	0	213	2								-20.000000	1	1	120996	1	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NFKBIE	4794	broad.mit.edu	37	6	44229575	44229575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44229575T>C	ENST00000275015.5	-	3	895	c.896A>G	c.(895-897)cAt>cGt	p.H299R		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon			10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		TACAGCCAGATGGAGTGCTGT	0.612000																								0							SO:0001583	missense			ENST00000275015.5	1	1	hg19	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	T	8.758	0.922890	0.18056	.	.	ENSG00000146232	ENST00000275015	T	0.71341	-0.56	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.059370	0.64402	D	0.000003	D	0.85323	0.5670	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89287	0.3616	10	0.87932	D	0	-0.4291	14.894	0.70630	0.0:0.0:0.0:1.0	.	299	O00221	IKBE_HUMAN	R	299	ENSP00000275015:H299R	ENSP00000275015:H299R	H	-	2	0	NFKBIE	44337553	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	8.040000	0.89188	2.000000	0.58554	0.533000	0.62120	CAT		TCGA-IB-7651-01A-11D-2154-08	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2	1	0	0	7	137	0	25	1	9.487892e-01	4	102	0	25	2		0	0	0	0	0	2	1	9.799782e-01	7	134	0	25	2								-13.528550	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.580000	0.260000	1.000000	1.000000	0.608157	0.580000	0	4.000000e-01	8.100000e-01
AARS2	57505	broad.mit.edu	37	6	44270564	44270564	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44270564G>A	ENST00000244571.4	-	17	2341	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial			34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		CCCAGTGACGGCCAGCAGGCG	0.627000																								0							SO:0001583	missense			ENST00000244571.4	1	1	hg19	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360816	0.61403	.	.	ENSG00000124608	ENST00000244571	T	0.71817	-0.6	5.79	5.79	0.91817	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.110343	0.64402	D	0.000008	T	0.62974	0.2472	M	0.71581	2.175	0.80722	D	1	B	0.25390	0.125	B	0.22152	0.038	T	0.65693	-0.6106	10	0.87932	D	0	-17.9853	17.1959	0.86892	0.0:0.0:1.0:0.0	.	780	Q5JTZ9	SYAM_HUMAN	V	780	ENSP00000244571:A780V	ENSP00000244571:A780V	A	-	2	0	AARS2	44378542	1.000000	0.71417	0.965000	0.40720	0.353000	0.29299	6.556000	0.73932	2.733000	0.93635	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	1	0	1	31	138	0	23	1	9.920972e-01	13	24	0	23	2		0	0	0	0	0	2	1	1	31	137	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
AARS2	57505	broad.mit.edu	37	6	44272508	44272508	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44272508G>A	ENST00000244571.4	-	12	1628	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial			34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		CTGCTGTCCCGTCCTCTGTAT	0.617000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000244571.4	1	1	hg19	CCDS34464.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	1	0	0	46	218	0	51	1	9.822917e-01	9	24	0	51	2		0	0	0	0	0	2	1	1	46	217	0	51	2								-20.000000	1	1	121412	13	41	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AARS2	57505	broad.mit.edu	37	6	44274124	44274124	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44274124G>T	ENST00000244571.4	-	9	1195	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial			34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		CACCAGGTTGGCGATCTGAAC	0.587000																								0							SO:0001583	missense			ENST00000244571.4	1	1	hg19	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382178	0.24944	.	.	ENSG00000124608	ENST00000244571	T	0.72167	-0.63	4.27	1.43	0.22495	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.445087	0.24960	N	0.034237	T	0.41743	0.1172	L	0.45581	1.43	0.23120	N	0.998261	P	0.43542	0.81	P	0.46629	0.522	T	0.32955	-0.9887	10	0.14656	T	0.56	-3.1415	3.9844	0.09509	0.4692:0.0:0.3673:0.1635	.	398	Q5JTZ9	SYAM_HUMAN	D	398	ENSP00000244571:A398D	ENSP00000244571:A398D	A	-	2	0	AARS2	44382102	0.098000	0.21812	0.833000	0.33012	0.012000	0.07955	1.033000	0.30191	0.462000	0.27095	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	1	0	1	170	750	0	146	1	9.999539e-01	15	49	0	146	2		0	0	0	0	0	2	1	1	165	737	0	146	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AARS2	57505	broad.mit.edu	37	6	44279892	44279892	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44279892G>T	ENST00000244571.4	-	2	354	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial			34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		ACATCTTCCAGGTCGTTATGG	0.517000																								0							SO:0001583	missense			ENST00000244571.4	1	1	hg19	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630469	0.67015	.	.	ENSG00000124608	ENST00000244571	D	0.87966	-2.32	4.9	3.07	0.35406	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.64402	D	0.000003	D	0.93625	0.7964	H	0.95365	3.66	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.94091	0.7353	10	0.87932	D	0	-13.8404	10.0341	0.42118	0.2216:0.0:0.7784:0.0	.	118	Q5JTZ9	SYAM_HUMAN	M	118	ENSP00000244571:L118M	ENSP00000244571:L118M	L	-	1	2	AARS2	44387870	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.275000	0.43399	1.279000	0.44446	0.436000	0.28706	CTG		TCGA-IB-7651-01A-11D-2154-08	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	1	0	1	116	542	0	120	1	9.675329e-01	7	21	0	120	2		0	0	0	0	0	2	1	1	114	530	0	119	2								-3.172561	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC5L	988	broad.mit.edu	37	6	44371706	44371706	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44371706G>A	ENST00000371477.3	+	6	999	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like			29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		AAACTACCAAGCTCTTGACGC	0.383000																								0							SO:0001583	missense			ENST00000371477.3	1	1	hg19	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	9.344	1.063710	0.20067	.	.	ENSG00000096401	ENST00000371477	T	0.42513	0.97	6.04	2.18	0.27775	.	0.513757	0.22903	N	0.054234	T	0.09024	0.0223	L	0.31752	0.955	0.27819	N	0.941867	B	0.02656	0.0	B	0.04013	0.001	T	0.37079	-0.9721	10	0.14656	T	0.56	-2.4246	5.9318	0.19142	0.1846:0.0:0.4174:0.398	.	234	Q99459	CDC5L_HUMAN	T	234	ENSP00000360532:A234T	ENSP00000360532:A234T	A	+	1	0	CDC5L	44479684	0.448000	0.25681	0.998000	0.56505	0.799000	0.45148	-0.073000	0.11468	0.110000	0.17919	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1	1	0	1	89	365	0	82	1	1	39	142	0	82	2		0	0	0	0	0	2	1	1	85	360	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC5L	988	broad.mit.edu	37	6	44394257	44394257	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44394257G>A	ENST00000371477.3	+	13	1988	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like			29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		ATGTAGAACCGCCTTTAACAG	0.284000																								0							SO:0001819	synonymous_variant			ENST00000371477.3	0	1	hg19	CCDS4912.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1	0	0	0	5	177	0	56	1	9.197412e-01	8	157	0	56	2		0	0	0	0	0	2	1	9.347300e-01	5	173	0	56	2								-3.469882	1	0	121388	4	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.340000	0.130000	0.670000	0.320000	0.368135	0.340000	0	2.100000e-01	5.100000e-01
RUNX2	860	broad.mit.edu	37	6	45459688	45459688	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45459688G>A	ENST00000371438.1	+	5	1054	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUNX2_ENST00000465038.2_Silent_p.Q232Q|RUNX2_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2			34					GGCACAGACAGAAGCTTGATG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000371438.1	1	1	hg19	CCDS43467.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	1	0	0	79	963	0	167	0	5.327373e-01	0	23	0	167	2		0	0	0	0	0	2	1	1	78	943	0	166	2								-15.780010	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.870000	0.700000	1.000000	1.000000	0.880167	0.870000	1	7.800000e-01	9.800000e-01
RUNX2	860	broad.mit.edu	37	6	45514903	45514903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45514903C>T	ENST00000371438.1	+	8	1785	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I|RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2			34					TGCACCACCACCTCGAATGGC	0.507000																								0							SO:0001583	missense			ENST00000371438.1	1	1	hg19	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006934	0.74932	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.77	5.77	0.91146	Runx inhibition (1);	0.043176	0.85682	D	0.000000	T	0.26340	0.0643	N	0.08118	0	0.53688	D	0.999974	P;P;P	0.49447	0.696;0.924;0.692	B;P;B	0.58266	0.373;0.836;0.275	T	0.34079	-0.9843	10	0.72032	D	0.01	-9.0178	20.3627	0.98863	0.0:1.0:0.0:0.0	.	522;476;462	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	I	476;544;522;476;454;462;440	ENSP00000420707:T476I;ENSP00000319087:T544I;ENSP00000446290:T522I;ENSP00000360493:T476I;ENSP00000360491:T454I;ENSP00000352514:T462I;ENSP00000360486:T440I	ENSP00000319087:T544I	T	+	2	0	RUNX2	45622881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	1	0	1	61	346	0	73	0	5.596029e-01	0	12	0	73	2		0	0	0	0	0	2	1	1	60	332	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CLIC5	53405	broad.mit.edu	37	6	45870911	45870911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45870911G>A	ENST00000185206.6	-	6	1299	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5			13					AACTCATCACGGGCATAGGCG	0.537000																								0							SO:0001583	missense			ENST00000185206.6	1	1	hg19	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519403	0.64634	.	.	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.95788	-3.81;-3.81	5.89	5.89	0.94794	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.052231	0.85682	D	0.000000	D	0.94225	0.8146	M	0.87547	2.89	0.80722	D	1	P;B	0.45715	0.865;0.195	B;B	0.39119	0.291;0.026	D	0.94849	0.8012	10	0.66056	D	0.02	.	14.1243	0.65210	0.0:0.0:0.7506:0.2494	.	383;224	Q9NZA1;Q53G01	CLIC5_HUMAN;.	C	383;224	ENSP00000185206:R383C;ENSP00000344165:R224C	ENSP00000185206:R383C	R	-	1	0	CLIC5	45978889	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.030000	0.49720	2.790000	0.95986	0.637000	0.83480	CGT		TCGA-IB-7651-01A-11D-2154-08	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1	1	0	1	56	265	0	59	1	9.999992e-01	22	79	0	59	2		0	0	0	0	0	2	1	1	55	256	0	59	2								-2.603516	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)			18					CTAAACAATTCGAACCCACCA	0.393000																								0							SO:0001583	missense			ENST00000321037.4	1	1	hg19	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709846	0.48517	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72835	-0.69	5.71	5.71	0.89125	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.992833	0.08206	N	0.981433	T	0.69628	0.3132	M	0.70842	2.15	0.09310	N	1	D	0.53151	0.958	P	0.45639	0.488	T	0.67658	-0.5614	10	0.54805	T	0.06	-14.1878	19.8579	0.96771	0.0:1.0:0.0:0.0	.	174	Q9Y6X5	ENPP4_HUMAN	L	174	ENSP00000318066:S174L	ENSP00000318066:S174L	S	+	2	0	ENPP4	46215800	0.191000	0.23288	0.925000	0.36789	0.833000	0.47200	1.916000	0.39986	2.687000	0.91594	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2	1	0	1	101	541	0	118	1	1	48	82	0	118	2		0	0	0	0	0	2	1	1	99	534	0	118	2								-3.223221	1	1	121402	1	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPP4	22875	broad.mit.edu	37	6	46108086	46108086	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46108086G>T	ENST00000321037.4	+	2	996	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)			18					TTCCTGCATCGATCATTCATA	0.388000																								0							SO:0001583	missense			ENST00000321037.4	1	1	hg19	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	8.431	0.848678	0.17034	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.77229	-1.08	5.67	-4.04	0.04010	Alkaline-phosphatase-like, core domain (1);	0.748364	0.14196	N	0.334993	T	0.73265	0.3565	M	0.88105	2.93	0.09310	N	1	P	0.44690	0.841	P	0.50314	0.637	T	0.73786	-0.3873	10	0.87932	D	0	-1.2773	8.3418	0.32247	0.4755:0.099:0.4256:0.0	.	256	Q9Y6X5	ENPP4_HUMAN	Y	256	ENSP00000318066:D256Y	ENSP00000318066:D256Y	D	+	1	0	ENPP4	46216045	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.161000	0.16481	-1.063000	0.03177	-0.768000	0.03414	GAT		TCGA-IB-7651-01A-11D-2154-08	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2	1	0	1	13	356	0	83	1	9.529548e-01	13	131	0	83	2		0	0	0	0	0	2	1	9.995120e-01	11	353	0	83	2								-3.722993	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.410000	0.230000	0.660000	0.410000	0.432441	0.410000	0	3.100000e-01	5.400000e-01
ENPP5	59084	broad.mit.edu	37	6	46129280	46129280	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46129280A>G	ENST00000371383.2	-	5	1477	c.1217T>C	c.(1216-1218)gTg>gCg	p.V406A	ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)			12					ATAAGGGACCACCCTTGGCAT	0.468000																								0							SO:0001583	missense			ENST00000371383.2	1	1	hg19	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.432032	0.00184	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73469	-0.75;-0.75	5.1	-2.1	0.07210	.	6.658910	0.00166	N	0.000000	T	0.15825	0.0381	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	10	0.10902	T	0.67	3.9963	6.3607	0.21427	0.3714:0.0:0.5109:0.1177	.	406	Q9UJA9	ENPP5_HUMAN	A	406	ENSP00000360436:V406A;ENSP00000230565:V406A	ENSP00000230565:V406A	V	-	2	0	ENPP5	46237239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.111000	0.10807	-0.369000	0.08028	-3.486000	0.00034	GTG		TCGA-IB-7651-01A-11D-2154-08	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2	1	0	1	97	438	0	116	1	9.999994e-01	30	63	0	116	2		0	0	0	0	0	2	1	1	92	435	0	113	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP39A1	51302	broad.mit.edu	37	6	46563770	46563770	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46563770G>T	ENST00000275016.2	-	8	1222	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1		EIF3K/CYP39A1(2)	21					GACACCAGGAGCTTTTAAACG	0.343000																								0							SO:0001583	missense			ENST00000275016.2	1	1	hg19	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870297	0.72065	.	.	ENSG00000146233	ENST00000275016	T	0.66995	-0.24	5.7	4.81	0.61882	.	0.299368	0.31734	N	0.007156	T	0.71829	0.3386	M	0.72894	2.215	0.41562	D	0.988633	D;D	0.60575	0.988;0.988	P;P	0.60886	0.88;0.88	T	0.76329	-0.2999	10	0.59425	D	0.04	-5.92	14.1785	0.65559	0.0:0.0:0.8503:0.1497	.	320;340	B7Z786;Q9NYL5	.;CP39A_HUMAN	D	340	ENSP00000275016:A340D	ENSP00000275016:A340D	A	-	2	0	CYP39A1	46671729	1.000000	0.71417	0.990000	0.47175	0.836000	0.47400	4.444000	0.60001	1.344000	0.45657	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1	0	0	1	94	389	1	101	1	7.864049e-01	3	11	1	101	2		0	0	0	0	0	2	1	1	90	383	1	100	17								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP39A1	51302	broad.mit.edu	37	6	46610004	46610004	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46610004C>T	ENST00000275016.2	-	2	412	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1		EIF3K/CYP39A1(2)	21					CATTCGGTTTCCCATAGCAAA	0.318000																								0							SO:0001583	missense			ENST00000275016.2	1	1	hg19	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846263	0.71603	.	.	ENSG00000146233	ENST00000275016	T	0.68479	-0.33	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81680	-0.0823	10	0.87932	D	0	-15.2661	17.2743	0.87111	0.0:1.0:0.0:0.0	.	70;70	B7Z786;Q9NYL5	.;CP39A_HUMAN	E	70	ENSP00000275016:G70E	ENSP00000275016:G70E	G	-	2	0	CYP39A1	46717963	1.000000	0.71417	0.439000	0.26833	0.789000	0.44602	5.604000	0.67626	2.436000	0.82500	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1	1	0	1	30	173	0	56	0	3.462113e-01	1	7	0	56	2		0	0	0	0	0	2	1	1	30	170	0	56	2								-16.097430	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999838	0.990000	1	9.900000e-01	1
TDRD6	221400	broad.mit.edu	37	6	46657569	46657569	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46657569C>T	ENST00000316081.6	+	1	1704	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Silent_p.F568F|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6			80			Lung(136;0.192)		TGGATGTATTCTTAGTTGACC	0.443000																								0							SO:0001819	synonymous_variant			ENST00000316081.6	1	1	hg19	CCDS34470.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	1	0	1	197	778	0	153		0	0	0	0	153	2		0	0	0	0	0	2	1	1	197	768	0	152	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TDRD6	221400	broad.mit.edu	37	6	46661801	46661801	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46661801T>A	ENST00000316081.6	+	1	5936	c.5936T>A	c.(5935-5937)tTt>tAt	p.F1979Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.F1979Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6			80			Lung(136;0.192)		GAAGAAGAATTTGTAGAGTAT	0.388000																								0							SO:0001583	missense			ENST00000316081.6	1	1	hg19	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432198	0.43122	.	.	ENSG00000180113	ENST00000544460;ENST00000316081;ENST00000371334	T;T	0.23754	1.89;1.92	5.41	2.87	0.33458	.	1.567150	0.03542	N	0.224098	T	0.20129	0.0484	M	0.63843	1.955	0.09310	N	1	P;P	0.45827	0.867;0.791	P;B	0.49829	0.623;0.419	T	0.13361	-1.0512	10	0.59425	D	0.04	-0.4369	5.8137	0.18479	0.1681:0.0:0.1756:0.6563	.	1979;1979	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1979;1979;40	ENSP00000443299:F1979Y;ENSP00000346065:F1979Y	ENSP00000346065:F1979Y	F	+	2	0	TDRD6	46769760	0.003000	0.15002	0.010000	0.14722	0.076000	0.17211	0.362000	0.20284	0.296000	0.22592	0.455000	0.32223	TTT		TCGA-IB-7651-01A-11D-2154-08	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	1	0	1	100	358	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	98	348	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLA2G7	7941	broad.mit.edu	37	6	46677077	46677077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46677077C>T	ENST00000274793.7	-	9	1052	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)			14			Lung(136;0.192)		AATCTCTGATCTTCACTAAGA	0.284000																								0							SO:0001583	missense			ENST00000274793.7	1	1	hg19	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345431	0.95807	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.56776	0.44;0.44	5.93	5.93	0.95920	.	0.093957	0.64402	D	0.000001	T	0.70675	0.3251	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71576	-0.4551	10	0.62326	D	0.03	.	19.9513	0.97200	0.0:1.0:0.0:0.0	.	286	Q13093	PAFA_HUMAN	N	286	ENSP00000274793:D286N;ENSP00000445666:D286N	ENSP00000274793:D286N	D	-	1	0	PLA2G7	46785036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.031000	0.76491	2.814000	0.96858	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1	1	0	1	90	302	0	82	0	1	0	106	0	82	2		0	0	0	0	0	2	1	1	88	294	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEP1A	4224	broad.mit.edu	37	6	46787418	46787418	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46787418T>G	ENST00000230588.4	+	7	542	c.533T>G	c.(532-534)aTc>aGc	p.I178S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)			42			Lung(136;0.192)		TATGTGAACATCTGGTGGGAC	0.473000																								0							SO:0001583	missense			ENST00000230588.4	1	1	hg19	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734390	0.89482	.	.	ENSG00000112818	ENST00000230588	T	0.72615	-0.67	5.81	5.81	0.92471	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93521	0.6861	10	0.87932	D	0	-26.6282	16.1678	0.81782	0.0:0.0:0.0:1.0	.	206;178	B7ZL91;Q16819	.;MEP1A_HUMAN	S	178	ENSP00000230588:I178S	ENSP00000230588:I178S	I	+	2	0	MEP1A	46895377	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	1	0	1	137	695	0	173		0	0	0	0	173	2		0	0	0	0	0	2	1	1	135	686	0	172	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEP1A	4224	broad.mit.edu	37	6	46794235	46794235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46794235G>A	ENST00000230588.4	+	9	932	c.923G>A	c.(922-924)tGc>tAc	p.C308Y		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)			42			Lung(136;0.192)		TTGGGACAATGCACAGGTCAG	0.483000																								0							SO:0001583	missense			ENST00000230588.4	1	1	hg19	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054545	0.75960	.	.	ENSG00000112818	ENST00000230588	T	0.24723	1.84	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66168	-0.5991	10	0.87932	D	0	-26.3005	20.2822	0.98520	0.0:0.0:1.0:0.0	.	336;308	B7ZL91;Q16819	.;MEP1A_HUMAN	Y	308	ENSP00000230588:C308Y	ENSP00000230588:C308Y	C	+	2	0	MEP1A	46902194	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	7.554000	0.82212	2.806000	0.96561	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	1	0	1	77	336	0	80	0	0	0	1	0	80	2		0	0	0	0	0	2	1	1	77	328	0	80	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEP1A	4224	broad.mit.edu	37	6	46806754	46806754	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46806754C>T	ENST00000230588.4	+	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)			42			Lung(136;0.192)		CACGGGGGAGCGCTGTCAGGC	0.587000																								0							SO:0001583	missense			ENST00000230588.4	1	1	hg19	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925138	0.73213	.	.	ENSG00000112818	ENST00000230588	D	0.93811	-3.29	5.8	4.88	0.63580	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.383602	0.31963	N	0.006797	D	0.94417	0.8204	M	0.71036	2.16	0.50039	D	0.999846	D;D	0.76494	0.999;0.996	P;P	0.57283	0.817;0.803	D	0.94627	0.7818	10	0.87932	D	0	-9.3579	14.1676	0.65488	0.2205:0.7795:0.0:0.0	.	736;708	B7ZL91;Q16819	.;MEP1A_HUMAN	C	708	ENSP00000230588:R708C	ENSP00000230588:R708C	R	+	1	0	MEP1A	46914713	0.998000	0.40836	1.000000	0.80357	0.476000	0.33039	2.820000	0.48057	2.751000	0.94390	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	1	0	1	135	648	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1	129	634	0	144	2								-20.000000	1	1	121412	3	37	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR116	221395	broad.mit.edu	37	6	46827246	46827246	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46827246C>T	ENST00000283296.7	-	17	2682	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	GPR116_ENST00000456426.2_Silent_p.T656T|GPR116_ENST00000362015.4_Silent_p.T798T|GPR116_ENST00000265417.7_Silent_p.T798T|GPR116_ENST00000545669.1_Silent_p.T227T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116			59			Lung(136;0.192)		TGACATTAACCGTAGAGAGCA	0.393000													NSCLC(59;410 1274 8751 36715 50546)											0							SO:0001819	synonymous_variant			ENST00000283296.7	1	1	hg19	CCDS4919.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	1	0	1	36	167	0	54	0	9.996116e-01	0	59	0	54	2		0	0	0	0	0	2	1	1	36	160	0	57	2								-2.671591	1	1	121398	2	28	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
GPR116	221395	broad.mit.edu	37	6	46834846	46834846	+	Silent	SNP	C	C	T	rs147958492	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46834846C>T	ENST00000283296.7	-	13	1938	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	GPR116_ENST00000456426.2_Silent_p.K408K|GPR116_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000265417.7_Silent_p.K550K|GPR116_ENST00000545669.1_5'UTR	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116			59			Lung(136;0.192)		TGTATGAATTCTTATATCTAA	0.413000													NSCLC(59;410 1274 8751 36715 50546)											0							SO:0001819	synonymous_variant			ENST00000283296.7	1	1	hg19	CCDS4919.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	1	0	1	65	339	0	78	0	9.750508e-01	0	33	0	78	2		0	0	0	0	0	2	1	1	65	336	0	78	2								-2.977525	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR116	221395	broad.mit.edu	37	6	46836688	46836688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46836688G>A	ENST00000283296.7	-	12	1841	c.1553C>T	c.(1552-1554)aCc>aTc	p.T518I	GPR116_ENST00000456426.2_Missense_Mutation_p.T376I|GPR116_ENST00000362015.4_Missense_Mutation_p.T518I|GPR116_ENST00000265417.7_Missense_Mutation_p.T518I|GPR116_ENST00000545669.1_5'UTR	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116			59			Lung(136;0.192)		CCTCCTCGTGGTATAAAATCT	0.418000													NSCLC(59;410 1274 8751 36715 50546)											0							SO:0001583	missense			ENST00000283296.7	0	1	hg19	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	6.510	0.462255	0.12342	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.22134	2.5;2.5;1.97;2.5	5.47	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.729338	0.12712	N	0.445422	T	0.05090	0.0136	L	0.29908	0.895	0.36252	D	0.853988	P;P;P;P	0.49783	0.544;0.72;0.928;0.72	B;B;B;B	0.40066	0.047;0.235;0.318;0.235	T	0.34601	-0.9822	10	0.13108	T	0.6	-8.4634	8.9	0.35487	0.2453:0.0:0.7547:0.0	.	73;518;376;518	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	I	518;518;518;376;518	ENSP00000283296:T518I;ENSP00000354563:T518I;ENSP00000412866:T376I;ENSP00000265417:T518I	ENSP00000265417:T518I	T	-	2	0	GPR116	46944647	0.669000	0.27502	0.938000	0.37757	0.340000	0.28889	1.419000	0.34793	0.653000	0.30826	0.591000	0.81541	ACC		TCGA-IB-7651-01A-11D-2154-08	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	0	0	0	13	423	0	86	0	2.380206e-01	0	29	0	86	2		0	0	0	0	0	2	1	9.995119e-01	13	418	0	86	2								-3.570004	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.350000	0.190000	0.560000	0.340000	0.367102	0.350000	0	2.600000e-01	4.600000e-01
GPR116	221395	broad.mit.edu	37	6	46851895	46851895	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46851895C>A	ENST00000283296.7	-	5	730	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	GPR116_ENST00000456426.2_Missense_Mutation_p.G148W|GPR116_ENST00000362015.4_Missense_Mutation_p.G148W|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000265417.7_Missense_Mutation_p.G148W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116			59			Lung(136;0.192)		CAATGGTGCCCTGGGAGGAAG	0.493000													NSCLC(59;410 1274 8751 36715 50546)											0							SO:0001583	missense			ENST00000283296.7	1	1	hg19	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571997	0.45798	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.30981	1.52;1.91;1.51;1.52	5.17	5.17	0.71159	.	0.367868	0.24549	N	0.037572	T	0.45915	0.1366	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.985;0.995;0.985	T	0.45175	-0.9279	10	0.87932	D	0	-11.1153	14.5188	0.67838	0.0:1.0:0.0:0.0	.	148;148;148	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	W	148	ENSP00000283296:G148W;ENSP00000354563:G148W;ENSP00000412866:G148W;ENSP00000265417:G148W	ENSP00000265417:G148W	G	-	1	0	GPR116	46959854	0.979000	0.34478	0.920000	0.36463	0.148000	0.21650	2.084000	0.41625	2.572000	0.86782	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	1	0	0	26	519	0	104	0	4.521285e-01	0	31	0	104	2		0	0	0	0	0	2	1	9.999999e-01	26	504	0	103	2								-2.687468	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.550000	0.370000	0.780000	0.550000	0.568268	0.550000	0	4.500000e-01	6.700000e-01
GPR116	221395	broad.mit.edu	37	6	46856207	46856207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46856207C>T	ENST00000283296.7	-	4	481	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GPR116_ENST00000456426.2_Missense_Mutation_p.V65I|GPR116_ENST00000362015.4_Missense_Mutation_p.V65I|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000265417.7_Missense_Mutation_p.V65I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116			59			Lung(136;0.192)		TCAATATTAACAGTGTATTCT	0.413000													NSCLC(59;410 1274 8751 36715 50546)											0							SO:0001583	missense			ENST00000283296.7	1	1	hg19	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	5.472	0.272212	0.10349	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.28666	1.6;1.99;1.61;1.6	5.66	2.36	0.29203	.	0.224788	0.30311	N	0.009918	T	0.05135	0.0137	N	0.20986	0.625	0.21445	N	0.99968	B;B;B	0.12013	0.002;0.005;0.002	B;B;B	0.14023	0.002;0.01;0.002	T	0.37126	-0.9719	10	0.16420	T	0.52	-12.8691	4.0781	0.09914	0.0:0.5774:0.1901:0.2325	.	65;65;65	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	I	65	ENSP00000283296:V65I;ENSP00000354563:V65I;ENSP00000412866:V65I;ENSP00000265417:V65I	ENSP00000265417:V65I	V	-	1	0	GPR116	46964166	0.196000	0.23350	0.196000	0.23383	0.143000	0.21401	0.543000	0.23237	0.821000	0.34540	-0.137000	0.14449	GTT		TCGA-IB-7651-01A-11D-2154-08	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	1	0	1	78	316	0	66	0	9.923784e-01	0	33	0	66	2		0	0	0	0	0	2	1	1	76	311	0	66	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR110	266977	broad.mit.edu	37	6	46989795	46989795	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46989795C>A	ENST00000371253.2	-	6	667		c.e6-1		GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110			29					CCCCAAATCTCTGTAGGAAAT	0.274000																								0							SO:0001630	splice_region_variant			ENST00000371253.2	1	1	hg19	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	7.976	0.750104	0.15778	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	.	.	.	5.62	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.743	0.46164	0.0:0.9121:0.0:0.0879	.	.	.	.	.	-1	.	.	.	-	.	.	GPR110	47097754	1.000000	0.71417	0.886000	0.34754	0.094000	0.18550	3.505000	0.53356	1.527000	0.49086	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	1	0	1	46	247	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	46	244	0	67	2								-2.856527	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CD2AP	23607	broad.mit.edu	37	6	47471177	47471177	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47471177G>A	ENST00000359314.5	+	2	621		c.e2+1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein			20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		TTTCGTTAAGGTAAGTATTTT	0.318000																								0							SO:0001630	splice_region_variant			ENST00000359314.5	1	1	hg19	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389631	0.82902	.	.	ENSG00000198087	ENST00000359314	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9996	0.89195	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD2AP	47579136	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.452000	0.90346	2.245000	0.73994	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2	0	0	0	10	284	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	9.966854e-01	10	278	0	61	2								-11.034890	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.400000	0.200000	0.680000	0.390000	0.424300	0.400000	0	2.900000e-01	5.400000e-01
OPN5	221391	broad.mit.edu	37	6	47776030	47776030	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47776030G>A	ENST00000371211.2	+	5	925	c.897G>A	c.(895-897)gcG>gcA	p.A299A	OPN5_ENST00000489301.2_Silent_p.A299A|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Silent_p.A299A	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5			29					AATCTGCAGCGATGTACAATC	0.453000													Melanoma(28;740 973 10870 42660 45347)											0							SO:0001819	synonymous_variant			ENST00000371211.2	1	1	hg19	CCDS4923.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	0	0	0	20	711	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	9.999939e-01	19	696	0	123	2								-2.753691	1	1	121412	10	45	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.310000	0.190000	0.470000	0.320000	0.330652	0.310000	0	2.500000e-01	4.000000e-01
CDYL	9425	broad.mit.edu	37	6	4892303	4892303	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4892303C>A	ENST00000328908.5	+	4	674	c.543C>A	c.(541-543)ctC>ctA	p.L181L	CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Silent_p.L127L			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like			30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)			CTCCATCTCTCTCCAGCCGGA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000328908.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	1	0	1	100	358	0	92	1	1	43	75	0	92	2		0	0	0	0	0	2	1	1	99	355	0	92	2								-3.730420	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUT	4594	broad.mit.edu	37	6	49426795	49426795	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49426795C>A	ENST00000274813.3	-	2	512	c.385G>T	c.(385-387)Gct>Tct	p.A129S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase			30	Lung NSC(77;0.0376)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAATCTCACCCTTAATGTTG	0.348000																								0		GRCh37	CD065768	MUT	D		SO:0001630	splice_region_variant			ENST00000274813.3	1	0	hg19	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721302	0.68959	.	.	ENSG00000146085	ENST00000274813	D	0.98207	-4.79	5.73	4.85	0.62838	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.85859	2.78	0.80722	D	1	P	0.39782	0.688	P	0.57679	0.825	D	0.99053	1.0828	9	.	.	.	-11.523	15.3823	0.74669	0.1403:0.8597:0.0:0.0	.	129	P22033	MUTA_HUMAN	S	129	ENSP00000274813:A129S	.	A	-	1	0	MUT	49534754	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.445000	0.80570	1.509000	0.48786	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1	1	0	0	27	200	0	57	1	9.925828e-01	3	57	0	57	2		0	0	0	0	0	2	1	1	27	196	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.930000	1.000000	1.000000	0.996286	0.990000	1	9.900000e-01	1
MUT	4594	broad.mit.edu	37	6	49427082	49427082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49427082A>G	ENST00000274813.3	-	2	225	c.98T>C	c.(97-99)cTa>cCa	p.L33P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase			30	Lung NSC(77;0.0376)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCTGGTGTAGAAGTCGTTG	0.483000																								0							SO:0001583	missense			ENST00000274813.3	1	1	hg19	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534520	0.45073	.	.	ENSG00000146085	ENST00000274813	D	0.98264	-4.83	5.38	5.38	0.77491	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);	0.279818	0.29846	N	0.011045	D	0.96358	0.8812	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.98338	1.0537	10	0.54805	T	0.06	-5.9567	14.8593	0.70366	1.0:0.0:0.0:0.0	.	33	P22033	MUTA_HUMAN	P	33	ENSP00000274813:L33P	ENSP00000274813:L33P	L	-	2	0	MUT	49535041	1.000000	0.71417	0.944000	0.38274	0.706000	0.40770	6.361000	0.73070	2.165000	0.68154	0.533000	0.62120	CTA		TCGA-IB-7651-01A-11D-2154-08	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1	1	0	1	64	337	0	80	1	9.999328e-01	22	54	0	80	2		0	0	0	0	0	2	1	1	64	329	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRISP1	167	broad.mit.edu	37	6	49819742	49819742	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49819742A>C	ENST00000335847.4	-	3	268	c.167T>G	c.(166-168)gTt>gGt	p.V56G	CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G|CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1			27	Lung NSC(77;0.0358)				GGCTGGTGGAACTACTCTTCT	0.378000																								0							SO:0001583	missense			ENST00000335847.4	1	1	hg19	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667597	0.29604	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.06	-2.72	0.05968	CAP domain (3);	2.580360	0.01107	N	0.005496	T	0.01029	0.0034	N	0.03224	-0.385	0.09310	N	1	B;P	0.44521	0.444;0.837	B;B	0.36030	0.086;0.216	T	0.24297	-1.0164	9	.	.	.	.	3.2892	0.06943	0.3582:0.0:0.3343:0.3075	.	56;56	P54107-2;P54107	.;CRIS1_HUMAN	G	56	ENSP00000425020:V56G;ENSP00000338276:V56G;ENSP00000348044:V56G;ENSP00000331317:V56G;ENSP00000427589:V56G;ENSP00000441798:V56G	.	V	-	2	0	CRISP1	49927701	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.585000	0.00423	-0.638000	0.05509	-0.256000	0.11100	GTT		TCGA-IB-7651-01A-11D-2154-08	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	1	0	1	83	349	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	82	347	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPP40	10799	broad.mit.edu	37	6	5000852	5000852	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5000852T>C	ENST00000380051.2	-	3	326	c.282A>G	c.(280-282)gcA>gcG	p.A94A	RPP40_ENST00000464646.1_Silent_p.A34A|RPP40_ENST00000319533.5_Intron	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit			14	Ovarian(93;0.11)	all_hematologic(90;0.0895)			TGTATGTTAGTGCATAGCAAG	0.299000																								0							SO:0001819	synonymous_variant			ENST00000380051.2	1	1	hg19	CCDS34333.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	1	0	1	67	263	0	64	1	9.887157e-01	12	18	0	64	2		0	0	0	0	0	2	1	1	66	257	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFAP2D	83741	broad.mit.edu	37	6	50683111	50683111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50683111G>A	ENST00000008391.3	+	2	550	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)			60	Lung NSC(77;0.0334)				GATCCACCACGGGGAGCCCAC	0.622000																								0							SO:0001583	missense			ENST00000008391.3	1	1	hg19	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020360	0.54576	.	.	ENSG00000008197	ENST00000008391	D	0.97209	-4.29	5.21	5.21	0.72293	.	0.052063	0.85682	D	0.000000	D	0.95723	0.8609	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97398	0.9994	10	0.56958	D	0.05	-16.1546	19.1268	0.93388	0.0:0.0:1.0:0.0	.	108	Q7Z6R9	AP2D_HUMAN	R	108	ENSP00000008391:G108R	ENSP00000008391:G108R	G	+	1	0	TFAP2D	50791070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.588000	0.98232	2.590000	0.87494	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	1	0	0	24	552	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	9.999996e-01	24	537	0	102	2								-2.654730	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.480000	0.310000	0.690000	0.480000	0.498223	0.480000	0	3.900000e-01	5.900000e-01
TFAP2B	7021	broad.mit.edu	37	6	50786656	50786656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50786656G>A	ENST00000393655.3	+	1	221	c.52G>A	c.(52-54)Gag>Aag	p.E18K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E18K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)			40	Lung NSC(77;0.156)				GAAGCTTGTGGAGAATGTCAA	0.483000													Pancreas(116;1373 2332 5475 10752)											0							SO:0001583	missense			ENST00000393655.3	1	1	hg19	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198890	0.79015	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	T;T;T	0.76839	-1.05;-1.05;-1.05	4.21	4.21	0.49690	.	0.392398	0.26700	N	0.022955	T	0.59074	0.2167	L	0.36672	1.1	0.80722	D	1	B	0.31893	0.345	B	0.26864	0.074	T	0.68318	-0.5440	10	0.72032	D	0.01	-3.8225	16.8977	0.86105	0.0:0.0:1.0:0.0	.	18	Q92481	AP2B_HUMAN	K	18;7;18	ENSP00000377265:E18K;ENSP00000342252:E7K;ENSP00000263046:E18K	ENSP00000263046:E18K	E	+	1	0	TFAP2B	50894615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.094000	0.94168	2.036000	0.60181	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	1	0	1	36	193	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	34	190	0	49	2								-3.042581	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
LYRM4	57128	broad.mit.edu	37	6	5109689	5109689	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5109689T>C	ENST00000330636.4	-	3	449	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	LYRM4_ENST00000468929.1_Nonstop_Mutation_p.*41W|LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000606472.1_5'Flank	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4			1	Ovarian(93;0.11)	all_hematologic(90;0.0901)			TTCTCAATGATCAGCTTGTCA	0.562000													NSCLC(130;1006 2426 17608 36797)											0							SO:0001583	missense			ENST00000330636.4	0	0	hg19	CCDS4493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.580|7.580	0.668632|0.668632	0.14776|0.14776	.|.	.|.	ENSG00000214113|ENSG00000214113	ENST00000330636|ENST00000468929	T|.	0.30448|.	1.53|.	5.42|5.42	-7.49|-7.49	0.01355|0.01355	.|.	0.389310|.	0.17005|.	U|.	0.190765|.	T|.	0.24890|.	0.0604|.	.|.	.|.	.|.	0.22787|0.22787	N|N	0.99874|0.99874	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.22243|.	-1.0222|.	9|.	0.02654|.	T|.	1|.	.|.	17.4863|17.4863	0.87689|0.87689	0.0:0.7223:0.0:0.2777|0.0:0.7223:0.0:0.2777	.|.	82|.	Q9HD34|.	LYRM4_HUMAN|.	V|W	82|41	ENSP00000418787:I82V|.	ENSP00000418787:I82V|.	I|X	-|-	1|3	0|0	LYRM4|LYRM4	5054688|5054688	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.949000|0.949000	0.60115|0.60115	-1.611000|-1.611000	0.02062|0.02062	-1.255000|-1.255000	0.02481|0.02481	-0.256000|-0.256000	0.11100|0.11100	ATC|TGA		TCGA-IB-7651-01A-11D-2154-08	LYRM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353461.3	1	0	1	95	533	0	106	1	1	34	101	0	106	2		0	0	0	0	0	2	1	1	92	521	0	104	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKHD1	5314	broad.mit.edu	37	6	51491841	51491841	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51491841G>A	ENST00000371117.3	-	66	12014	c.11739C>T	c.(11737-11739)cgC>cgT	p.R3913R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	p.R3913R(1)		304	Lung NSC(77;0.0605)				GTGATTCTCGGCGTTTGGATG	0.438000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000371117.3	1	1	hg19	CCDS4935.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1	128	626	0	121	0	6.298266e-01	0	12	0	121	2		0	0	0	0	0	2	1	1	127	610	0	121	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKHD1	5314	broad.mit.edu	37	6	51618011	51618011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51618011C>A	ENST00000371117.3	-	57	9213	c.8938G>T	c.(8938-8940)Gaa>Taa	p.E2980*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)			304	Lung NSC(77;0.0605)				GAAAATTCTTCTCGGCTGGAC	0.443000																								0							SO:0001587	stop_gained			ENST00000371117.3	0	1	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	50	16.920727	0.99875	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.97	5.11	0.69529	.	0.389019	0.26855	N	0.022142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.698	0.45909	0.0:0.8405:0.0:0.1595	.	.	.	.	X	2980	.	ENSP00000341097:E2980X	E	-	1	0	PKHD1	51725970	0.060000	0.20803	0.874000	0.34290	0.478000	0.33099	1.984000	0.40658	1.536000	0.49237	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1	72	345	0	90	0	5.392116e-01	0	10	0	90	2		0	0	0	0	0	2	1	1	71	340	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKHD1	5314	broad.mit.edu	37	6	51771115	51771115	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51771115C>T	ENST00000371117.3	-	41	6981	c.6706G>A	c.(6706-6708)Gtg>Atg	p.V2236M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)			304	Lung NSC(77;0.0605)				GAGTTCCTCACTGTGCAGCCC	0.438000																								0							SO:0001583	missense			ENST00000371117.3	1	1	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675254	0.47781	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92647	-3.08;-3.08	5.25	1.4	0.22301	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.197660	0.35207	N	0.003363	D	0.89715	0.6795	M	0.77103	2.36	0.09310	N	1	D;P	0.56968	0.978;0.894	P;B	0.53593	0.73;0.437	D	0.83848	0.0261	10	0.51188	T	0.08	.	8.7278	0.34480	0.0:0.6892:0.0:0.3108	.	2236;2236	P08F94-2;P08F94	.;PKHD1_HUMAN	M	2236	ENSP00000360158:V2236M;ENSP00000341097:V2236M	ENSP00000341097:V2236M	V	-	1	0	PKHD1	51879074	0.008000	0.16893	0.004000	0.12327	0.118000	0.20060	0.111000	0.15458	0.215000	0.20761	-0.136000	0.14681	GTG		TCGA-IB-7651-01A-11D-2154-08	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1	68	306	0	60	0	2.300380e-01	0	5	0	60	2		0	0	0	0	0	2	1	1	67	301	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKHD1	5314	broad.mit.edu	37	6	51900516	51900516	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51900516C>A	ENST00000371117.3	-	28	3376	c.3101G>T	c.(3100-3102)gGg>gTg	p.G1034V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)			304	Lung NSC(77;0.0605)				GGCCCAGAGCCCTCCTGTAAC	0.398000																								0							SO:0001583	missense			ENST00000371117.3	1	1	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173670	0.78452	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-2.14;-2.14	5.57	5.57	0.84162	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.157646	0.44483	D	0.000441	D	0.91392	0.7284	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91938	0.5560	10	0.72032	D	0.01	.	16.6945	0.85332	0.0:1.0:0.0:0.0	.	1034;1034	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1034	ENSP00000360158:G1034V;ENSP00000341097:G1034V	ENSP00000341097:G1034V	G	-	2	0	PKHD1	52008475	0.998000	0.40836	0.976000	0.42696	0.997000	0.91878	4.845000	0.62853	2.631000	0.89168	0.650000	0.86243	GGG		TCGA-IB-7651-01A-11D-2154-08	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1	57	230	0	91	0	1.829096e-01	0	4	0	91	2		0	0	0	0	0	2	1	1	57	228	0	90	2								-3.619838	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKHD1	5314	broad.mit.edu	37	6	51944773	51944773	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51944773G>A	ENST00000371117.3	-	5	590	c.315C>T	c.(313-315)taC>taT	p.Y105Y	PKHD1_ENST00000340994.4_Silent_p.Y105Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)			304	Lung NSC(77;0.0605)				CTTCCAGGAAGTACAGACCCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000371117.3	1	1	hg19	CCDS4935.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	0	0	0	21	593	0	136	0	2.440250e-02	0	7	0	136	2		0	0	0	0	0	2	1	9.999971e-01	20	585	0	136	2								-18.517680	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.390000	0.250000	0.580000	0.390000	0.411624	0.390000	0	3.200000e-01	4.900000e-01
MCM3	4172	broad.mit.edu	37	6	52132686	52132686	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52132686C>A	ENST00000229854.7	-	14	2125	c.2049G>T	c.(2047-2049)gaG>gaT	p.E683D	MCM3_ENST00000596288.1_Missense_Mutation_p.E728D|MCM3_ENST00000419835.2_Missense_Mutation_p.E637D			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3			20	Lung NSC(77;0.0931)				gctcctggtcctcttggcttt	0.468000																								0							SO:0001583	missense			ENST00000229854.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.49	1.654578	0.29425	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.61742	0.08;0.08;0.08	4.59	2.79	0.32731	.	1.165220	0.06123	N	0.669208	T	0.15565	0.0375	N	0.11427	0.14	0.31581	N	0.655164	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08889	-1.0700	10	0.13470	T	0.59	-11.1109	7.6055	0.28100	0.0:0.8059:0.0:0.1941	.	637;683	B4DUQ9;P25205	.;MCM3_HUMAN	D	683;180;637;178	ENSP00000229854:E683D;ENSP00000388647:E637D;ENSP00000407651:E178D	ENSP00000229854:E683D	E	-	3	2	MCM3	52240645	0.996000	0.38824	0.997000	0.53966	0.778000	0.44026	0.508000	0.22692	0.846000	0.35142	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1	1	0	1	7	75	0	11	1	9.999732e-01	34	267	0	11	2		0	0	0	0	0	2	1	9.776505e-01	7	70	0	11	2								-12.748980	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.980000	0.460000	1.000000	1.000000	0.881956	0.980000	1	6.900000e-01	1
MCM3	4172	broad.mit.edu	37	6	52141118	52141118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52141118C>T	ENST00000229854.7	-	9	1398	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	MCM3_ENST00000596288.1_Missense_Mutation_p.R486Q|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3			20	Lung NSC(77;0.0931)				GGCATTCAGCCGAGCATGGAT	0.517000																								0							SO:0001583	missense			ENST00000229854.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.6	4.025812	0.75390	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06218	3.33;3.33	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.02688	0.0081	L	0.28740	0.885	0.80722	D	1	B;B	0.31655	0.334;0.211	B;B	0.28011	0.085;0.059	T	0.40117	-0.9580	10	0.66056	D	0.02	-13.7045	13.109	0.59263	0.0:0.9233:0.0:0.0767	.	395;441	B4DUQ9;P25205	.;MCM3_HUMAN	Q	441;395	ENSP00000229854:R441Q;ENSP00000388647:R395Q	ENSP00000229854:R441Q	R	-	2	0	MCM3	52249077	1.000000	0.71417	0.819000	0.32651	0.954000	0.61252	5.896000	0.69822	2.669000	0.90835	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1	1	0	1	9	126	0	30	1	9.962475e-01	19	126	0	30	2		0	0	0	0	0	2	1	9.941499e-01	9	123	0	30	2								-12.989120	1	1	121410	1	25	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.780000	0.390000	1.000000	1.000000	0.779112	0.780000	0	5.600000e-01	1
MCM3	4172	broad.mit.edu	37	6	52147572	52147572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52147572C>A	ENST00000229854.7	-	3	355	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MCM3_ENST00000596288.1_Missense_Mutation_p.K138N|MCM3_ENST00000419835.2_Missense_Mutation_p.K47N			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3			20	Lung NSC(77;0.0931)				CCTCATACTGCTTGGCATAGG	0.532000																								0							SO:0001583	missense			ENST00000229854.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555099	0.65425	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11821	2.74;4.17	5.59	4.73	0.59995	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	M	0.87682	2.9	0.80722	D	1	B;B	0.31989	0.35;0.224	B;B	0.34301	0.179;0.179	T	0.01440	-1.1354	10	0.42905	T	0.14	-27.4225	14.3189	0.66470	0.0:0.9287:0.0:0.0713	.	47;93	B4DUQ9;P25205	.;MCM3_HUMAN	N	93;47	ENSP00000229854:K93N;ENSP00000388647:K47N	ENSP00000229854:K93N	K	-	3	2	MCM3	52255531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.712000	0.37940	1.366000	0.46076	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1	1	0	1	46	251	0	61	1	9.999942e-01	27	74	0	61	2		0	0	0	0	0	2	1	9.999840e-01	46	246	1	60	16								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
MCM3	4172	broad.mit.edu	37	6	52148176	52148176	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52148176A>G	ENST00000229854.7	-	2	183	c.107T>C	c.(106-108)gTt>gCt	p.V36A	MCM3_ENST00000596288.1_Missense_Mutation_p.V81A|MCM3_ENST00000419835.2_Intron			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3			20	Lung NSC(77;0.0931)				CAGCTCCCGAACTTTGCTCTG	0.453000																								0							SO:0001583	missense			ENST00000229854.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	28.3	4.904051	0.92035	.	.	ENSG00000112118	ENST00000229854	T	0.11821	2.74	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);	0.122293	0.56097	D	0.000038	T	0.20577	0.0495	M	0.88570	2.965	0.80722	D	1	P	0.45474	0.859	P	0.46208	0.507	T	0.08432	-1.0722	10	0.72032	D	0.01	-10.427	14.6754	0.68975	1.0:0.0:0.0:0.0	.	36	P25205	MCM3_HUMAN	A	36	ENSP00000229854:V36A	ENSP00000229854:V36A	V	-	2	0	MCM3	52256135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.051000	0.60960	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1	0	0	1	76	397	1	100	1	9.998274e-01	30	89	1	100	6		0	0	0	0	0	2	1	1	76	393	1	99	17								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAQR8	85315	broad.mit.edu	37	6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	p.R8H(1)		17	Lung NSC(77;0.0875)				ATCTTGGAGCGCCTGAGCACC	0.622000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000442253.2	1	1	hg19	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013836	0.54468	.	.	ENSG00000170915	ENST00000512121;ENST00000442253;ENST00000360726	T;T;T	0.48201	0.82;1.85;1.85	5.3	4.37	0.52481	.	0.057774	0.64402	D	0.000002	T	0.29355	0.0731	L	0.57536	1.79	0.53688	D	0.999971	B	0.15719	0.014	B	0.14023	0.01	T	0.26710	-1.0095	10	0.72032	D	0.01	-26.5311	11.8411	0.52355	0.0921:0.0:0.9079:0.0	.	8	Q8TEZ7	MPRB_HUMAN	H	8	ENSP00000427161:R8H;ENSP00000406197:R8H;ENSP00000353953:R8H	ENSP00000353953:R8H	R	+	2	0	PAQR8	52375993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.373000	0.52394	1.105000	0.41606	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	1	0	1	31	131	0	19	1	9.117087e-01	5	15	0	19	2		0	0	0	0	0	2	1	1	31	129	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PAQR8	85315	broad.mit.edu	37	6	52268422	52268422	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268422G>A	ENST00000442253.2	+	2	585	c.411G>A	c.(409-411)gaG>gaA	p.E137E	PAQR8_ENST00000360726.3_Silent_p.E137E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII			17	Lung NSC(77;0.0875)				CCAAGTCAGAGCTCTCCCACT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000442253.2	1	1	hg19	CCDS4941.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	1	0	1	128	478	0	129	1	9.999998e-01	29	55	0	129	2		0	0	0	0	0	2	1	1	125	473	0	127	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAQR8	85315	broad.mit.edu	37	6	52268953	52268953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268953C>T	ENST00000442253.2	+	2	1116	c.942C>T	c.(940-942)cgC>cgT	p.R314R	PAQR8_ENST00000360726.3_Silent_p.R314R	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII			17	Lung NSC(77;0.0875)				TCCTGCAGCGCCATGGACCCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000442253.2	1	1	hg19	CCDS4941.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	1	0	1	27	156	0	32	1	9.997332e-01	23	55	0	32	2		0	0	0	0	0	2	1	1	27	155	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999714	0.990000	1	9.900000e-01	1
EFHC1	114327	broad.mit.edu	37	6	52288769	52288769	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52288769C>T	ENST00000371068.5	+	2	192	c.89C>T	c.(88-90)aCg>aTg	p.T30M	EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1			27	Lung NSC(77;0.109)				AGAAGTCAGACGCTGAGCTAC	0.423000																								0							SO:0001583	missense			ENST00000371068.5	1	1	hg19	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976744	0.74360	0.0	1.16E-4	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.68624	-0.16;-0.34	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.78432	-0.2206	10	0.37606	T	0.19	-7.9389	20.4581	0.99154	0.0:1.0:0.0:0.0	.	11;30	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	M	30;11	ENSP00000360107:T30M;ENSP00000444521:T11M	ENSP00000360107:T30M	T	+	2	0	EFHC1	52396728	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	6.840000	0.75369	2.835000	0.97688	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	1	0	1	93	368	0	97	1	9.887725e-01	8	22	0	97	2		0	0	0	0	0	2	1	1	90	357	0	96	2								-20.000000	1	1	121412	27	46	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFHC1	114327	broad.mit.edu	37	6	52343868	52343868	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52343868T>A	ENST00000371068.5	+	8	1415	c.1312T>A	c.(1312-1314)Ttt>Att	p.F438I	EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I|EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1			27	Lung NSC(77;0.109)				AGACCGCAGATTTGTCTTCTC	0.438000																								0							SO:0001583	missense			ENST00000371068.5	1	1	hg19	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514557	0.85389	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	D;D;D	0.85629	-1.79;-1.98;-2.01	5.89	5.89	0.94794	Uncharacterised domain DM10 (2);	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	M	0.91406	3.205	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.989	D	0.94628	0.7819	10	0.87932	D	0	-4.1261	16.3071	0.82852	0.0:0.0:0.0:1.0	.	419;347;438	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	I	438;347;419	ENSP00000360107:F438I;ENSP00000416492:F347I;ENSP00000444521:F419I	ENSP00000360107:F438I	F	+	1	0	EFHC1	52451827	1.000000	0.71417	0.905000	0.35620	0.391000	0.30476	7.794000	0.85869	2.250000	0.74265	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	1	0	0	19	477	0	79	1	5.677192e-01	3	45	0	79	2		0	0	0	0	0	2	1	9.999899e-01	19	471	0	79	2								-18.382710	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.440000	0.270000	0.660000	0.440000	0.461923	0.440000	0	3.500000e-01	5.600000e-01
EFHC1	114327	broad.mit.edu	37	6	52354937	52354937	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52354937G>T	ENST00000371068.5	+	10	1743		c.e10-1		EFHC1_ENST00000538167.1_Splice_Site|EFHC1_ENST00000433625.2_Splice_Site	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1			27	Lung NSC(77;0.109)				TTTCTCTACAGCAAGCAAACT	0.403000																								0							SO:0001630	splice_region_variant			ENST00000371068.5	1	1	hg19	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692250	0.68271	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.829	0.85939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFHC1	52462896	0.996000	0.38824	0.997000	0.53966	0.884000	0.51177	4.760000	0.62235	2.833000	0.97629	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	1	0	0	31	176	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	30	175	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999888	0.990000	1	9.900000e-01	1
GSTA2	2939	broad.mit.edu	37	6	52617718	52617718	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52617718T>C	ENST00000493422.1	-	5	503	c.348A>G	c.(346-348)gaA>gaG	p.E116E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2			16	Lung NSC(77;0.118)			Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TGGCATCTTGTTCCTCAGGTT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000493422.1	1	1	hg19	CCDS4944.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	1	0	0	54	1209	0	266	0	1.079892e-01	0	13	0	266	2		0	0	0	0	0	2	1	1	54	1193	0	265	2								-5.202879	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.490000	0.370000	0.630000	0.500000	0.503322	0.490000	0	4.300000e-01	5.700000e-01
GSTA2	2939	broad.mit.edu	37	6	52622688	52622688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622688G>A	ENST00000493422.1	-	2	213	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2			16	Lung NSC(77;0.118)			Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	AGGAGCCACCGGATGGACTCC	0.488000																								0							SO:0001583	missense			ENST00000493422.1	1	1	hg19	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527229	0.44969	.	.	ENSG00000244067	ENST00000493422	T	0.13196	2.61	2.81	2.81	0.32909	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	H	0.99777	4.77	0.49582	D	0.999809	D	0.89917	1.0	D	0.97110	1.0	T	0.73059	-0.4102	10	0.87932	D	0	.	12.7101	0.57083	0.0:0.0:1.0:0.0	.	20	P09210	GSTA2_HUMAN	W	20	ENSP00000420168:R20W	ENSP00000420168:R20W	R	-	1	2	GSTA2	52730647	1.000000	0.71417	0.958000	0.39756	0.329000	0.28539	3.367000	0.52350	1.317000	0.45149	0.184000	0.17185	CGG		TCGA-IB-7651-01A-11D-2154-08	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	1	0	0	29	415	0	89	0	3.910619e-01	0	20	0	89	2		0	0	0	0	0	2	1	1	29	407	0	88	2								-2.415698	0	1	121410	5	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.750000	0.520000	1.000000	1.000000	0.768827	0.750000	0	6.300000e-01	9.000000e-01
GSTA2	2939	broad.mit.edu	37	6	52622689	52622689	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622689G>A	ENST00000493422.1	-	2	212	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2			16	Lung NSC(77;0.118)			Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GGAGCCACCGGATGGACTCCA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000493422.1	1	1	hg19	CCDS4944.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	1	0	1	77	365	0	88	0	8.841783e-01	0	20	0	88	2		0	0	0	0	0	2	1	1	75	359	0	87	2								-20.000000	1	1	121408	1	37	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSTA5	221357	broad.mit.edu	37	6	52699025	52699025	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52699025G>T	ENST00000370989.2	-	4	357	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5			15	Lung NSC(77;0.0912)			Glutathione(DB00143)	TGACATATGAGCAGAAGAAGG	0.383000																								0							SO:0001583	missense			ENST00000370989.2	1	1	hg19	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	6.796	0.515794	0.12944	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02085	4.46;4.46	2.58	-2.38	0.06622	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.065164	0.64402	D	0.000009	T	0.00241	0.0007	N	0.00750	-1.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41840	-0.9486	10	0.52906	T	0.07	.	3.5426	0.07816	0.2105:0.0:0.4597:0.3298	.	110	Q7RTV2	GSTA5_HUMAN	I	110	ENSP00000360028:L110I;ENSP00000284562:L110I	ENSP00000284562:L110I	L	-	1	0	GSTA5	52806984	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.157000	0.10085	-0.900000	0.03896	-1.296000	0.01341	CTC		TCGA-IB-7651-01A-11D-2154-08	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	1	0	1	146	677	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	1	144	669	0	179	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSTA5	221357	broad.mit.edu	37	6	52701122	52701122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52701122C>T	ENST00000370989.2	-	3	213	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5			15	Lung NSC(77;0.0912)			Glutathione(DB00143)	AGCTTCATCCCGTCAATCTCA	0.423000																								0							SO:0001583	missense			ENST00000370989.2	1	1	hg19	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518049	0.64634	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.20069	2.1;2.1	2.63	2.63	0.31362	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	H	0.98769	4.325	0.54753	D	0.999989	P	0.48294	0.908	P	0.52031	0.688	T	0.67639	-0.5619	10	0.66056	D	0.02	.	13.2149	0.59854	0.0:1.0:0.0:0.0	.	62	Q7RTV2	GSTA5_HUMAN	R	62	ENSP00000360028:G62R;ENSP00000284562:G62R	ENSP00000284562:G62R	G	-	1	0	GSTA5	52809081	1.000000	0.71417	0.993000	0.49108	0.688000	0.40055	5.269000	0.65542	1.456000	0.47831	0.205000	0.17691	GGG		TCGA-IB-7651-01A-11D-2154-08	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	0	0	1	155	734	1	198		0	0	0	1	198	2		0	0	0	0	0	2	1	1	153	726	1	197	16								-2.107185	0	1	121412	2	41	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSTA3	2940	broad.mit.edu	37	6	52770568	52770568	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52770568A>C	ENST00000211122.3	-	2	130	c.65T>G	c.(64-66)cTc>cGc	p.L22R	GSTA3_ENST00000370968.1_Intron	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3			10	Lung NSC(77;0.0912)			Glutathione(DB00143)	TGCAGCCAAGAGCCACCGGAT	0.448000																								0							SO:0001583	missense			ENST00000211122.3	1	1	hg19	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.790438	0.70337	.	.	ENSG00000174156	ENST00000211122	T	0.12039	2.72	3.14	3.14	0.36123	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.48840	0.1522	H	0.99726	4.73	0.48452	D	0.999655	D	0.89917	1.0	D	0.80764	0.994	T	0.70702	-0.4799	10	0.87932	D	0	.	12.0972	0.53761	1.0:0.0:0.0:0.0	.	22	Q16772	GSTA3_HUMAN	R	22	ENSP00000211122:L22R	ENSP00000211122:L22R	L	-	2	0	GSTA3	52878527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	1.688000	0.51068	0.533000	0.62120	CTC		TCGA-IB-7651-01A-11D-2154-08	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1	1	0	1	57	239	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	57	235	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSTA4	2941	broad.mit.edu	37	6	52847504	52847504	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52847504C>T	ENST00000370959.1	-	6	532		c.e6-1		GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000541324.1_Splice_Site			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4			7	Lung NSC(77;0.103)			Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408000																								0							SO:0001630	splice_region_variant			ENST00000370959.1	1	1	hg19	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878857	0.33162	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSTA4	52955463	1.000000	0.71417	0.989000	0.46669	0.113000	0.19764	5.009000	0.63998	2.906000	0.99361	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	1	0	0	31	344	0	60	0	3.932682e-02	1	3	0	60	2		0	0	0	0	0	2	1	1	30	340	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.950000	0.670000	1.000000	1.000000	0.919745	0.950000	1	8.000000e-01	1
ICK	22858	broad.mit.edu	37	6	52895864	52895864	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52895864G>A	ENST00000350082.5	-	5	703	c.357C>T	c.(355-357)caC>caT	p.H119H	ICK_ENST00000356971.3_Splice_Site_p.H119H	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase			31	Lung NSC(77;0.103)				ATCACCTACCGTGTTTGTGAA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000350082.5	1	0	hg19	CCDS4949.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	1	0	1	58	234	0	64	1	9.945481e-01	6	29	0	64	2		0	0	0	0	0	2	1	1	58	231	0	64	2								-20.000000	1	1	121410	5	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCM1	8521	broad.mit.edu	37	6	52995599	52995599	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995599A>G	ENST00000259803.7	-	5	782		c.e5+1			NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)			24	Lung NSC(77;0.0755)				ATGAAGGATTACCCTGGTCTC	0.512000																								0							SO:0001630	splice_region_variant			ENST00000259803.7	1	1	hg19	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.912420	0.33721	.	.	ENSG00000137270	ENST00000259803	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1342	0.81471	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCM1	53103558	1.000000	0.71417	0.979000	0.43373	0.016000	0.09150	3.656000	0.54467	2.209000	0.71365	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1	1	0	1	63	291	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	63	286	0	58	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCM1	8521	broad.mit.edu	37	6	52995674	52995674	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995674C>A	ENST00000259803.7	-	5	708	c.497G>T	c.(496-498)aGa>aTa	p.R166I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)			24	Lung NSC(77;0.0755)				CATGGCTCTTCTTGCCTCAGC	0.423000																								0							SO:0001583	missense			ENST00000259803.7	1	1	hg19	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236308	0.79800	.	.	ENSG00000137270	ENST00000259803	T	0.77229	-1.08	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86844	0.2019	10	0.87932	D	0	-5.1915	20.4238	0.99064	0.0:1.0:0.0:0.0	.	166	Q9NP62	GCM1_HUMAN	I	166	ENSP00000259803:R166I	ENSP00000259803:R166I	R	-	2	0	GCM1	53103633	1.000000	0.71417	0.997000	0.53966	0.172000	0.22775	6.685000	0.74543	2.834000	0.97654	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1	1	0	1	97	455	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	98	442	0	74	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCM1	8521	broad.mit.edu	37	6	53010408	53010408	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53010408G>T	ENST00000259803.7	-	2	234	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	U3_ENST00000516121.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)			24	Lung NSC(77;0.0755)				TTTGTCTTCAGAATCAAAGTC	0.413000																								0							SO:0001583	missense			ENST00000259803.7	1	1	hg19	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034932	0.35893	.	.	ENSG00000137270	ENST00000259803	T	0.76186	-1.0	5.21	4.32	0.51571	.	0.394862	0.24115	N	0.041401	T	0.62405	0.2425	L	0.46157	1.445	0.09310	N	1	D	0.55385	0.971	P	0.52710	0.707	T	0.58515	-0.7623	10	0.62326	D	0.03	-6.206	7.9103	0.29787	0.0811:0.0:0.7584:0.1605	.	8	Q9NP62	GCM1_HUMAN	Y	8	ENSP00000259803:S8Y	ENSP00000259803:S8Y	S	-	2	0	GCM1	53118367	0.443000	0.25641	0.376000	0.26042	0.789000	0.44602	2.207000	0.42788	1.138000	0.42230	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1	1	0	1	108	435	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1	107	429	0	120	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXOC2	55770	broad.mit.edu	37	6	532557	532557	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:532557G>A	ENST00000230449.4	-	23	2427	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	EXOC2_ENST00000448181.3_Silent_p.I359I	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2			46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)			CTTTCAACTCGATGTAATTTT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000230449.4	1	1	hg19	CCDS34327.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	1	0	1	68	324	0	79	1	9.999983e-01	28	66	0	79	2		0	0	0	0	0	2	1	1	68	318	0	78	2								-3.267572	1	1	121412	1	29	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCLC	2729	broad.mit.edu	37	6	53370601	53370601	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53370601C>A	ENST00000229416.6	-	11	1773	c.1290G>T	c.(1288-1290)gaG>gaT	p.E430D	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit			22	Lung NSC(77;0.0137)			L-Cysteine(DB00151)|Vitamin E(DB00163)	TGTGTCTTACCTCCATGGGTC	0.423000																								0							SO:0001630	splice_region_variant			ENST00000229416.6	0	1	hg19	CCDS4952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.088170|4.088170	0.76642|0.76642	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000229416|ENST00000514373	T|.	0.51325|.	0.71|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66247|0.66247	0.2770|0.2770	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	B|.	0.31503|.	0.326|.	B|.	0.32211|.	0.142|.	T|T	0.60929|0.60929	-0.7165|-0.7165	9|5	.|.	.|.	.|.	.|.	20.0627|20.0627	0.97684|0.97684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	430|.	P48506|.	GSH1_HUMAN|.	D|M	430|32	ENSP00000229416:E430D|.	.|.	E|R	-|-	3|2	2|0	GCLC|GCLC	53478560|53478560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.776000|7.776000	0.85560|0.85560	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GAG|AGG		TCGA-IB-7651-01A-11D-2154-08	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2	0	0	0	15	372	0	83	0	9.848871e-01	1	172	0	83	2		0	0	0	0	0	2	0	4.851905e-01	15	368	1	83	16								-2.949426	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.450000	0.260000	0.700000	0.450000	0.471661	0.450000	0	3.500000e-01	5.800000e-01
KLHL31	401265	broad.mit.edu	37	6	53519407	53519407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519407C>A	ENST00000407079.1	-	1	663	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	KLHL31_ENST00000370905.3_Missense_Mutation_p.D222Y			Q9H511	KLH31_HUMAN	kelch-like family member 31			20	Lung NSC(77;0.0158)				AAGTCATCATCTATAAGAAGT	0.348000																								0							SO:0001583	missense			ENST00000407079.1	1	1	hg19	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948747	0.73787	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.70282	-0.47;-0.47	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83293	-0.0032	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	222	Q9H511	KLH31_HUMAN	Y	222	ENSP00000359942:D222Y;ENSP00000384644:D222Y	ENSP00000359942:D222Y	D	-	1	0	KLHL31	53627366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	1	0	1	77	324	0	49	0	0	1	0	0	49	2		0	0	0	0	0	2	1	1	77	316	0	48	2								-3.417698	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL31	401265	broad.mit.edu	37	6	53519553	53519553	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519553A>G	ENST00000407079.1	-	1	517	c.518T>C	c.(517-519)aTg>aCg	p.M173T	KLHL31_ENST00000370905.3_Missense_Mutation_p.M173T			Q9H511	KLH31_HUMAN	kelch-like family member 31			20	Lung NSC(77;0.0158)				AACAACATACATGCAATTCTC	0.368000																								0							SO:0001583	missense			ENST00000407079.1	1	1	hg19	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590830	0.28357	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68624	-0.34;-0.34	6.03	4.87	0.63330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.54323	1.7	0.53688	D	0.999978	B	0.18461	0.028	B	0.18263	0.021	T	0.52711	-0.8539	10	0.62326	D	0.03	.	12.1727	0.54167	0.9336:0.0:0.0664:0.0	.	173	Q9H511	KLH31_HUMAN	T	173	ENSP00000359942:M173T;ENSP00000384644:M173T	ENSP00000359942:M173T	M	-	2	0	KLHL31	53627512	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.522000	0.81844	1.100000	0.41517	0.454000	0.30748	ATG		TCGA-IB-7651-01A-11D-2154-08	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	1	0	1	82	320	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	82	314	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TINAG	27283	broad.mit.edu	37	6	54173411	54173411	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173411G>A	ENST00000259782.4	+	1	159	c.63G>A	c.(61-63)aaG>aaA	p.K21K	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Silent_p.K17K|TINAG_ENST00000370864.3_Silent_p.K3K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen			34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)		GGATGGAGAAGCAGTATTTAT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000259782.4	1	1	hg19	CCDS4955.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	1	0	0	56	338	0	75	1	8.848135e-01	17	8	0	75	2		0	0	0	0	0	2	1	1	54	331	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
TINAG	27283	broad.mit.edu	37	6	54173618	54173618	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173618A>C	ENST00000259782.4	+	1	366	c.270A>C	c.(268-270)gaA>gaC	p.E90D	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.E86D|TINAG_ENST00000370864.3_Missense_Mutation_p.E72D	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen			34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)		GTGACAGAGAAAATTCTGATT	0.453000																								0							SO:0001583	missense			ENST00000259782.4	1	1	hg19	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	A	7.050	0.564316	0.13498	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.41758	0.99;0.99;0.99	5.09	1.03	0.20045	Somatomedin B domain (4);	0.300007	0.29185	N	0.012887	T	0.06416	0.0165	N	0.19112	0.55	0.23391	N	0.997775	B;B	0.09022	0.001;0.002	B;B	0.16289	0.011;0.015	T	0.40534	-0.9558	10	0.07175	T	0.84	.	5.8169	0.18497	0.4518:0.4473:0.1009:0.0	.	90;90	Q9UJW2;Q7Z477	TINAG_HUMAN;.	D	86;90;90;72	ENSP00000359906:E86D;ENSP00000259782:E90D;ENSP00000359901:E72D	ENSP00000259782:E90D	E	+	3	2	TINAG	54281577	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	0.602000	0.24134	-0.085000	0.12573	0.402000	0.26972	GAA		TCGA-IB-7651-01A-11D-2154-08	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	1	0	1	112	477	0	143	1	9.779066e-01	8	20	0	143	2		0	0	0	0	0	2	1	1	110	463	0	143	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TINAG	27283	broad.mit.edu	37	6	54219400	54219400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54219400C>T	ENST00000259782.4	+	9	1312	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen			34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)		AGAAAAATATCGAAAGCTTCA	0.318000																								0							SO:0001587	stop_gained			ENST00000259782.4	0	1	hg19	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	38	7.097332	0.98063	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.54	2.25	0.28309	.	0.986368	0.08253	N	0.974253	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8905	0.58069	0.4987:0.5013:0.0:0.0	.	.	.	.	X	265;406;85	.	ENSP00000259782:R406X	R	+	1	2	TINAG	54327359	0.865000	0.29922	0.033000	0.17914	0.653000	0.38743	1.940000	0.40223	0.616000	0.30141	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	1	0	1	61	237	0	39	0	8.660612e-01	1	15	0	39	2		0	0	0	0	0	2	1	1	60	232	0	39	2								-3.622324	1	1	121276	2	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83B	222584	broad.mit.edu	37	6	54735119	54735119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54735119G>T	ENST00000306858.7	+	2	191	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	p.K25N(1)		71	Lung NSC(77;0.0178)|Renal(3;0.122)				CTCACTACAAGGAATGGTATC	0.423000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000306858.7	1	1	hg19	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035781	0.54896	.	.	ENSG00000168143	ENST00000306858	T	0.11063	2.81	5.08	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	N	0.26092	0.79	0.49051	D	0.99974	D	0.89917	1.0	D	0.83275	0.996	T	0.07966	-1.0745	10	0.46703	T	0.11	-29.8232	9.8932	0.41302	0.1563:0.0:0.8437:0.0	.	25	Q5T0W9	FA83B_HUMAN	N	25	ENSP00000304078:K25N	ENSP00000304078:K25N	K	+	3	2	FAM83B	54843078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.459000	0.35234	1.273000	0.44346	0.467000	0.42956	AAG		TCGA-IB-7651-01A-11D-2154-08	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	1	0	1	123	450	0	125	1	9.054306e-01	8	9	0	125	2		0	0	0	0	0	2	1	1	120	440	0	122	2								-3.758941	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM83B	222584	broad.mit.edu	37	6	54805024	54805024	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805024C>T	ENST00000306858.7	+	5	1371	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B			71	Lung NSC(77;0.0178)|Renal(3;0.122)				TTGGAAAAAGCCATCTGATAG	0.488000																								0							SO:0001583	missense			ENST00000306858.7	1	1	hg19	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674902	0.29783	.	.	ENSG00000168143	ENST00000306858	T	0.07800	3.16	5.47	3.64	0.41730	.	0.224693	0.40302	N	0.001133	T	0.04998	0.0134	M	0.72118	2.19	0.39476	D	0.967804	B	0.21071	0.051	B	0.14578	0.011	T	0.05784	-1.0864	10	0.72032	D	0.01	-14.0648	10.2045	0.43105	0.1371:0.7924:0.0:0.0705	.	419	Q5T0W9	FA83B_HUMAN	S	419	ENSP00000304078:P419S	ENSP00000304078:P419S	P	+	1	0	FAM83B	54912983	0.998000	0.40836	0.213000	0.23690	0.134000	0.20937	1.064000	0.30579	0.752000	0.32923	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	1	0	0	17	367	0	71	1	2.389131e-01	2	18	0	71	2		0	0	0	0	0	2	1	9.999636e-01	17	363	0	71	2								-4.571370	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.510000	0.310000	0.780000	0.510000	0.534652	0.510000	0	4.000000e-01	6.500000e-01
FAM83B	222584	broad.mit.edu	37	6	54805335	54805335	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805335C>A	ENST00000306858.7	+	5	1682	c.1566C>A	c.(1564-1566)ggC>ggA	p.G522G	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B			71	Lung NSC(77;0.0178)|Renal(3;0.122)				GATTTGAGGGCTATGATAATC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000306858.7	1	1	hg19	CCDS34479.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	0	0	0	15	402	0	82	0	3.969363e-01	1	35	0	82	2		0	0	0	0	0	2	1	9.998748e-01	15	401	0	81	2								-3.318794	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.420000	0.240000	0.650000	0.410000	0.438326	0.420000	0	3.200000e-01	5.400000e-01
HCRTR2	3062	broad.mit.edu	37	6	55128552	55128552	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55128552T>C	ENST00000370862.3	+	4	1030	c.694T>C	c.(694-696)Tac>Cac	p.Y232H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2			46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)		TCTGGTGACATACATGGCACC	0.373000																								0							SO:0001583	missense			ENST00000370862.3	1	1	hg19	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608309	0.87258	.	.	ENSG00000137252	ENST00000370862	T	0.72505	-0.66	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88220	0.6378	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92202	0.5769	10	0.87932	D	0	.	16.0445	0.80711	0.0:0.0:0.0:1.0	.	232;232	Q548Y0;O43614	.;OX2R_HUMAN	H	232	ENSP00000359899:Y232H	ENSP00000359899:Y232H	Y	+	1	0	HCRTR2	55236511	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	7.593000	0.82686	2.197000	0.70478	0.491000	0.48974	TAC		TCGA-IB-7651-01A-11D-2154-08	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1	1	0	1	37	138	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1	37	135	0	30	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFRAL	389400	broad.mit.edu	37	6	55216312	55216312	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55216312C>T	ENST00000340465.2	+	5	718	c.632C>T	c.(631-633)gCa>gTa	p.A211V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like			48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)		AAGACATGTGCAGTGAACATG	0.428000																								0							SO:0001583	missense			ENST00000340465.2	1	1	hg19	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120224	0.56613	.	.	ENSG00000187871	ENST00000340465	T	0.42513	0.97	6.05	5.19	0.71726	.	0.062950	0.64402	D	0.000005	T	0.30947	0.0781	L	0.59436	1.845	0.39501	D	0.968204	P	0.43314	0.803	B	0.40702	0.338	T	0.31724	-0.9933	10	0.87932	D	0	-5.4052	15.1396	0.72601	0.0:0.9328:0.0:0.0672	.	211	Q6UXV0	GFRAL_HUMAN	V	211	ENSP00000343636:A211V	ENSP00000343636:A211V	A	+	2	0	GFRAL	55324271	0.997000	0.39634	0.897000	0.35233	0.739000	0.42172	3.913000	0.56394	1.566000	0.49654	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	1	0	1	90	403	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	88	397	0	91	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HMGCLL1	54511	broad.mit.edu	37	6	55304313	55304313	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55304313G>A	ENST00000398661.2	-	9	1061	c.930C>T	c.(928-930)ggC>ggT	p.G310G	HMGCLL1_ENST00000370850.2_Silent_p.G177G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000508459.1_Silent_p.G114G|HMGCLL1_ENST00000274901.4_Silent_p.G280G|HMGCLL1_ENST00000507223.1_5'UTR	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1			31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)		CATAAGGGCAGCCACCTAATC	0.423000													Ovarian(35;840 893 7837 15538 42887)											0							SO:0001819	synonymous_variant			ENST00000398661.2	1	1	hg19	CCDS43475.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	0	0	1	68	327	0	98	0	2.100143e-01	0	5	0	98	2		0	0	0	0	0	2	1	1	67	321	0	97	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP5	653	broad.mit.edu	37	6	55623887	55623887	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55623887G>A	ENST00000370830.3	-	6	1829	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5			45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)		AAAATGCAGCGTATCCTTCTG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000370830.3	1	0	hg19	CCDS4958.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1	1	0	0	83	355	0	70	0	2.447512e-01	0	5	0	70	2		0	0	0	0	0	2	1	1	81	324	0	70	2								-3.202493	1	1	121408	236	55	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP5	653	broad.mit.edu	37	6	55739599	55739599	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55739599A>G	ENST00000370830.3	-	1	763	c.65T>C	c.(64-66)gTg>gCg	p.V22A	BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5			45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)		TGCATAACCCACTAGAACCCA	0.388000																								0							SO:0001583	missense			ENST00000370830.3	1	1	hg19	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599136	0.28534	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71698	-0.59;-0.21	5.72	5.72	0.89469	.	0.153821	0.43110	D	0.000608	T	0.24967	0.0606	N	0.02539	-0.55	0.46586	D	0.999113	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.31696	-0.9934	10	0.07990	T	0.79	.	14.5622	0.68148	1.0:0.0:0.0:0.0	.	22;22	B4E0Y4;P22003	.;BMP5_HUMAN	A	22	ENSP00000359866:V22A;ENSP00000391818:V22A	ENSP00000359866:V22A	V	-	2	0	BMP5	55847558	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.979000	0.70508	2.172000	0.68678	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1	0	0	1	201	954	1	227	0	3.050043e-02	0	2	1	227	2		0	0	0	0	0	2	1	1	193	931	1	225	18								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL21A1	81578	broad.mit.edu	37	6	55922469	55922469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55922469C>A	ENST00000244728.5	-	30	3257	c.2860G>T	c.(2860-2862)Gga>Tga	p.G954*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1			41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)		TAGTTTGGTCCTTTTCTGAAC	0.473000																								0							SO:0001587	stop_gained			ENST00000244728.5	0	1	hg19	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	39	7.607457	0.98387	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.44055	D	0.996794	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8313	0.88683	0.0:1.0:0.0:0.0	.	.	.	.	X	954;951;954;951;320	.	ENSP00000244728:G954X	G	-	1	0	COL21A1	56030428	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.794000	0.75135	2.275000	0.75901	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2	1	0	1	27	108	0	23	0	4.294933e-02	0	2	0	23	2		0	0	0	0	0	2	1	1	27	107	0	23	2								-3.650546	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
COL21A1	81578	broad.mit.edu	37	6	56035650	56035650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035650C>T	ENST00000244728.5	-	5	1220	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1			41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)		GGAAGACCTTCTGGGAAAACA	0.348000																								0							SO:0001583	missense			ENST00000244728.5	1	1	hg19	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923244	0.73213	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.15603	2.41;2.41;2.41	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.52532	U	0.000071	T	0.25306	0.0615	L	0.60455	1.87	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.73380	0.879;0.98	T	0.03221	-1.1059	10	0.16896	T	0.51	.	17.5385	0.87840	0.0:1.0:0.0:0.0	.	275;275	Q96P44-3;Q96P44	.;COLA1_HUMAN	K	275	ENSP00000244728:E275K;ENSP00000359855:E275K;ENSP00000444384:E275K	ENSP00000244728:E275K	E	-	1	0	COL21A1	56143609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.126000	0.65437	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2	1	0	1	19	55	0	19	0	6.993007e-02	0	2	0	19	2		0	0	0	0	0	2	1	9.999963e-01	19	54	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
COL21A1	81578	broad.mit.edu	37	6	56035927	56035927	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035927C>A	ENST00000244728.5	-	4	1038		c.e4-1		COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1			41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)		CAGACAGATTCTATAAAGCAA	0.303000																								0							SO:0001630	splice_region_variant			ENST00000244728.5	1	1	hg19	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898615	0.72639	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL21A1	56143886	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.235000	0.78143	2.084000	0.62774	0.585000	0.79938	.		TCGA-IB-7651-01A-11D-2154-08	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2	0	0	0	11	248	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.982157e-01	10	243	0	69	2								-3.103377	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.500000	0.260000	0.820000	0.490000	0.523439	0.500000	0	3.700000e-01	6.600000e-01
DST	667	broad.mit.edu	37	6	56328406	56328406	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56328406G>A	ENST00000361203.3	-	96	21963	c.21956C>T	c.(21955-21957)gCg>gTg	p.A7319V	DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000370754.5_Missense_Mutation_p.A7608V|DST_ENST00000446842.2_Missense_Mutation_p.A7104V|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.A4992V|DST_ENST00000370769.4_Missense_Mutation_p.A7430V			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		GGCCGCCTGCGCAGCCTGACT	0.587000																								0							SO:0001583	missense			ENST00000361203.3	1	0	hg19		4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	G|G	2.123|2.123	-0.400962|-0.400962	0.04865|0.04865	2.48E-4|2.48E-4	0.001562|0.001562	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000523292	T;T;T;T;T;T;T|.	0.62105|.	1.13;0.05;0.05;0.13;1.01;0.1;0.06|.	5.73|5.73	0.582|0.582	0.17412|0.17412	.|.	0.489613|.	0.18730|.	N|.	0.132777|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.03608|0.03608	-0.345|-0.345	0.23589|.	N|.	0.997341|.	B;B;B;B;B;B;B;B|.	0.16166|.	0.0;0.01;0.002;0.0;0.003;0.002;0.0;0.016|.	B;B;B;B;B;B;B;B|.	0.13407|.	0.001;0.0;0.001;0.001;0.009;0.001;0.002;0.003|.	T|T	0.23368|0.23368	-1.0190|-1.0190	9|4	0.23891|.	T|.	0.37|.	.|.	13.3256|13.3256	0.60457|0.60457	0.2087:0.2518:0.5395:0.0|0.2087:0.2518:0.5395:0.0	.|.	5315;7430;7608;7428;4992;116;79;5233|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0|.	.;.;.;DYST_HUMAN;.;.;.;.|.	V|C	4992;7608;7430;5315;7104;5233;7319|117	ENSP00000244364:A4992V;ENSP00000359790:A7608V;ENSP00000359805:A7430V;ENSP00000400883:A5315V;ENSP00000393645:A7104V;ENSP00000359824:A5233V;ENSP00000354508:A7319V|.	ENSP00000244364:A4992V|.	A|R	-|-	2|1	0|0	DST|DST	56436365|56436365	0.014000|0.014000	0.17966|0.17966	0.002000|0.002000	0.10522|0.10522	0.104000|0.104000	0.19210|0.19210	0.391000|0.391000	0.20784|0.20784	-0.186000|-0.186000	0.10533|0.10533	-0.165000|-0.165000	0.13383|0.13383	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1	80	354	0	73	1	1	56	142	0	73	2		0	0	0	0	0	2	1	1	78	350	0	72	2								-3.164747	1	1	120966	307	56	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56342199	56342199	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56342199C>T	ENST00000361203.3	-	86	20666	c.20659G>A	c.(20659-20661)Gac>Aac	p.D6887N	DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000370754.5_Missense_Mutation_p.D7176N|DST_ENST00000446842.2_Missense_Mutation_p.D6672N|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000370769.4_Missense_Mutation_p.D6998N			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		GTGATGGAGTCGGGGTGGCAG	0.458000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	28.3	4.907843	0.92107	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52983	0.64;1.08;1.08;0.64;1.08;1.08;1.08	5.58	5.58	0.84498	.	0.000000	0.53938	D	0.000059	T	0.69655	0.3135	M	0.84846	2.72	0.32497	N	0.5393319999999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.97110	0.999;1.0;0.999;0.999;0.892	T	0.71189	-0.4666	9	0.52906	T	0.07	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	4910;6998;7176;6996;4584	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	4584;7176;6998;4910;6672;4801;6887	ENSP00000244364:D4584N;ENSP00000359790:D7176N;ENSP00000359805:D6998N;ENSP00000400883:D4910N;ENSP00000393645:D6672N;ENSP00000359824:D4801N;ENSP00000354508:D6887N	ENSP00000244364:D4584N	D	-	1	0	DST	56450158	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	7.776000	0.85560	2.789000	0.95967	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1	77	352	0	85	1	1	53	183	0	85	2		0	0	0	0	0	2	1	1	73	345	0	84	2								-3.390672	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56394248	56394248	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56394248G>A	ENST00000244364.6	-	47	9931	c.9724C>T	c.(9724-9726)Cgg>Tgg	p.R3242W	DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000370754.5_Missense_Mutation_p.R5834W|DST_ENST00000446842.2_Missense_Mutation_p.R5330W|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R5656W	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		caaaataCCCGAAGTTCAGAC	0.348000																								0							SO:0001583	missense			ENST00000244364.6	0	1	hg19	CCDS47443.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461646	0.26248	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842	T;T;T;T;T	0.62788	1.25;-0.0;0.0;1.25;1.25	5.9	5.01	0.66863	.	0.182958	0.26122	N	0.026212	T	0.44932	0.1317	L	0.36672	1.1	0.27764	N	0.943715	D;B;B;B;B	0.65815	0.995;0.282;0.282;0.004;0.085	B;B;B;B;B	0.44315	0.446;0.018;0.018;0.002;0.013	T	0.55192	-0.8179	9	0.72032	D	0.01	.	16.0025	0.80306	0.0:0.0:0.8605:0.1395	.	3568;5656;5834;5654;3242	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	W	3242;5834;5656;3568;5330	ENSP00000244364:R3242W;ENSP00000359790:R5834W;ENSP00000359805:R5656W;ENSP00000400883:R3568W;ENSP00000393645:R5330W	ENSP00000244364:R3242W	R	-	1	2	DST	56502207	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.071000	0.64382	1.444000	0.47605	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	0	0	1	27	134	0	30	1	9.999881e-01	31	64	0	30	2		0	0	0	0	0	2	1	1	26	130	0	30	2								-20.000000	1	1	120716	1	22	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56417657	56417657	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56417657G>A	ENST00000361203.3	-	57	15307	c.15300C>T	c.(15298-15300)taC>taT	p.Y5100Y	DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000370754.5_Silent_p.Y5280Y|DST_ENST00000446842.2_Silent_p.Y4776Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.Y2688Y|DST_ENST00000370769.4_Silent_p.Y5102Y			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		ACATGGTCAGGTATTTGTTAC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000361203.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	0	123	514	0	121	1	1	35	75	0	121	2		0	0	0	0	0	2	1	1	119	501	0	121	2								-20.000000	1	1	120874	1	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56468647	56468647	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56468647G>T	ENST00000361203.3	-	36	10153	c.10146C>A	c.(10144-10146)agC>agA	p.S3382R	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3560R|DST_ENST00000446842.2_Missense_Mutation_p.S3056R|DST_ENST00000312431.6_Missense_Mutation_p.S3382R|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S3382R			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		GTTCGGTTGAGCTATCTCCAG	0.383000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.86	1.469648	0.26423	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81739	-0.05;-0.05;0.9;-1.53;-0.08;-0.59	5.63	1.12	0.20585	.	0.727216	0.12485	N	0.464726	T	0.38321	0.1036	.	.	.	0.34183	D	0.671197	B	0.12630	0.006	B	0.10450	0.005	T	0.02574	-1.1139	8	0.10636	T	0.68	.	5.8097	0.18460	0.3137:0.1434:0.5429:0.0	.	3056	Q03001-9	.	R	3560;3382;3056;3382;3382;3056	ENSP00000359790:S3560R;ENSP00000359805:S3382R;ENSP00000393645:S3056R;ENSP00000307959:S3382R;ENSP00000354508:S3382R;ENSP00000404924:S3056R	ENSP00000307959:S3382R	S	-	3	2	DST	56576606	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.001000	0.12947	0.278000	0.22164	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1	16	95	0	22	1	8.959375e-01	5	21	0	22	2		0	0	0	0	0	2	1	9.999494e-01	16	93	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.970000	1.000000	1.000000	0.997067	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56472155	56472155	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472155C>A	ENST00000361203.3	-	36	6645	c.6638G>T	c.(6637-6639)aGg>aTg	p.R2213M	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R2391M|DST_ENST00000446842.2_Missense_Mutation_p.R1887M|DST_ENST00000312431.6_Missense_Mutation_p.R2213M|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R2213M			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		AGGTGAATCCCTGTTTGTATT	0.348000																								0							SO:0001583	missense			ENST00000361203.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.83	2.054911	0.36277	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81996	-0.07;-0.07;0.88;-1.56;-0.09;-0.35	5.38	-3.95	0.04118	.	0.998767	0.08101	N	0.997755	T	0.62780	0.2456	.	.	.	0.24542	N	0.994065	P	0.45827	0.867	P	0.44946	0.465	T	0.57423	-0.7814	8	0.72032	D	0.01	.	3.907	0.09186	0.1311:0.479:0.1341:0.2558	.	1887	Q03001-9	.	M	2391;2213;1887;2213;2213;1887	ENSP00000359790:R2391M;ENSP00000359805:R2213M;ENSP00000393645:R1887M;ENSP00000307959:R2213M;ENSP00000354508:R2213M;ENSP00000404924:R1887M	ENSP00000307959:R2213M	R	-	2	0	DST	56580114	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.849000	0.04322	-0.569000	0.06030	-0.251000	0.11542	AGG		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	0	7	233	0	29	0	4.436790e-02	0	10	0	29	2		0	0	0	0	0	2	1	9.792486e-01	7	227	0	29	2								-2.847374	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.350000	0.150000	0.640000	0.330000	0.375904	0.350000	0	2.400000e-01	5.000000e-01
DST	667	broad.mit.edu	37	6	56472399	56472399	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472399G>A	ENST00000361203.3	-	36	6401	c.6394C>T	c.(6394-6396)Ctc>Ttc	p.L2132F	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.L2310F|DST_ENST00000446842.2_Missense_Mutation_p.L1806F|DST_ENST00000312431.6_Missense_Mutation_p.L2132F|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.L2132F			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		TATGATATGAGACTGGGAACA	0.363000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.03	1.238030	0.22711	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80824	0.06;0.06;1.02;-1.42;0.05;-0.2	4.52	-0.0795	0.13710	.	0.798511	0.10832	N	0.629213	T	0.45115	0.1326	.	.	.	0.23336	N	0.997883	B	0.22604	0.072	B	0.12156	0.007	T	0.05599	-1.0875	8	0.35671	T	0.21	.	3.7409	0.08530	0.2912:0.4129:0.296:0.0	.	1806	Q03001-9	.	F	2310;2132;1806;2132;2132;1806	ENSP00000359790:L2310F;ENSP00000359805:L2132F;ENSP00000393645:L1806F;ENSP00000307959:L2132F;ENSP00000354508:L2132F;ENSP00000404924:L1806F	ENSP00000307959:L2132F	L	-	1	0	DST	56580358	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.149000	0.10204	0.158000	0.19367	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1	16	85	0	35	1	3.256941e-01	4	3	0	35	2		0	0	0	0	0	2	1	9.999588e-01	16	85	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998512	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56473301	56473301	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56473301C>T	ENST00000361203.3	-	36	5499	c.5492G>A	c.(5491-5493)cGt>cAt	p.R1831H	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.R2009H|DST_ENST00000446842.2_Missense_Mutation_p.R1505H|DST_ENST00000312431.6_Missense_Mutation_p.R1831H|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R1831H			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		TACAGTTAAACGCTTGGCAGG	0.488000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.59	3.166951	0.57476	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000064	T	0.65037	0.2653	.	.	.	0.34191	D	0.672011	P	0.43607	0.812	B	0.41440	0.357	T	0.74352	-0.3693	8	0.87932	D	0	.	12.1534	0.54062	0.0:0.9201:0.0:0.0799	.	1505	Q03001-9	.	H	2009;1831;1505;1831;1831;1505	ENSP00000359790:R2009H;ENSP00000359805:R1831H;ENSP00000393645:R1505H;ENSP00000307959:R1831H;ENSP00000354508:R1831H;ENSP00000404924:R1505H	ENSP00000307959:R1831H	R	-	2	0	DST	56581260	0.996000	0.38824	0.275000	0.24674	0.979000	0.70002	3.817000	0.55668	2.584000	0.87258	0.455000	0.32223	CGT		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1	25	124	0	37	0	1.418967e-01	0	4	0	37	2		0	0	0	0	0	2	1	9.999999e-01	25	123	0	36	2								-20.000000	1	1	120828	1	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999901	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56483562	56483562	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56483562T>G	ENST00000370765.6	-	23	5377	c.5270A>C	c.(5269-5271)aAg>aCg	p.K1757T	DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		TTTTTCCATCTTCTTCCGAAA	0.393000																								0							SO:0001583	missense			ENST00000370765.6	1	1	hg19	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507487	0.64410	.	.	ENSG00000151914	ENST00000370765	T	0.32988	1.43	5.49	5.49	0.81192	.	.	.	.	.	T	0.37705	0.1013	.	.	.	0.18873	N	0.999988	D	0.76494	0.999	D	0.71656	0.974	T	0.12682	-1.0538	7	0.16420	T	0.52	.	15.8929	0.79315	0.0:0.0:0.0:1.0	.	1757	Q03001-3	.	T	1757	ENSP00000359801:K1757T	ENSP00000359801:K1757T	K	-	2	0	DST	56591521	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.954000	0.70298	2.205000	0.71048	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	0	0	0	28	688	0	154	0	9.540721e-03	0	4	0	154	2		0	0	0	0	0	2	1	1	27	680	0	152	2								-19.999990	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.450000	0.300000	0.630000	0.450000	0.466083	0.450000	0	3.700000e-01	5.500000e-01
DST	667	broad.mit.edu	37	6	56484401	56484401	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56484401A>G	ENST00000370765.6	-	23	4538	c.4431T>C	c.(4429-4431)aaT>aaC	p.N1477N	DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		CTTTTTCATGATTAAGAGATT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000370765.6	1	1	hg19	CCDS4959.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	1	0	0	72	373	0	68	1	5.005994e-01	5	5	0	68	2		0	0	0	0	0	2	1	1	70	373	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56492082	56492082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56492082G>A	ENST00000361203.3	-	30	4016	c.4009C>T	c.(4009-4011)Ctg>Ttg	p.L1337L	DST_ENST00000370788.2_Silent_p.L1337L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000370754.5_Silent_p.L1515L|DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000518935.1_Silent_p.L1011L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000370769.4_Silent_p.L1337L			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		TCGGACACCAGCATCTATAAA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000361203.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	0	91	418	0	124	1	9.992374e-01	20	31	0	124	2		0	0	0	0	0	2	1	1	90	414	0	121	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56494123	56494123	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56494123T>G	ENST00000361203.3	-	28	3774	c.3767A>C	c.(3766-3768)gAt>gCt	p.D1256A	DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000370754.5_Missense_Mutation_p.D1434A|DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A|DST_ENST00000518935.1_Missense_Mutation_p.D930A|DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000370769.4_Missense_Mutation_p.D1256A			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		CCAGTCAAAATCAAGGTCCCG	0.373000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	27.8	4.868477	0.91587	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000029	T	0.53562	0.1804	M	0.74258	2.255	0.30255	N	0.793703	D;D;D;D;D;D;D;D	0.89917	0.997;0.996;0.997;0.999;0.999;1.0;0.997;0.999	P;P;P;D;D;D;P;D	0.80764	0.895;0.837;0.895;0.971;0.978;0.994;0.895;0.966	T	0.60419	-0.7267	9	0.72032	D	0.01	.	16.1678	0.81782	0.0:0.0:0.0:1.0	.	1256;1256;1434;930;930;930;1256;930	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	A	930;1434;1256;1256;930;1256;1256;1256;930;1296;930;930	ENSP00000244364:D930A;ENSP00000359790:D1434A;ENSP00000359805:D1256A;ENSP00000400883:D1256A;ENSP00000393645:D930A;ENSP00000307959:D1256A;ENSP00000359824:D1256A;ENSP00000354508:D1256A;ENSP00000404924:D930A;ENSP00000431030:D1296A;ENSP00000359801:D930A;ENSP00000431003:D930A	ENSP00000244364:D930A	D	-	2	0	DST	56602082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.218000	0.71995	0.528000	0.53228	GAT		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1	90	450	0	132	1	9.988309e-01	18	34	0	132	2		0	0	0	0	0	2	1	1	90	442	0	132	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56498955	56498955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56498955C>T	ENST00000361203.3	-	23	2970	c.2963G>A	c.(2962-2964)aGa>aAa	p.R988K	DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000370754.5_Missense_Mutation_p.R1166K|DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000312431.6_Missense_Mutation_p.R988K|DST_ENST00000518935.1_Missense_Mutation_p.R662K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000370769.4_Missense_Mutation_p.R988K			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		AGCTCGAATTCTATCAATTTC	0.378000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.37	1.617451	0.28801	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.48	3.66	0.41972	.	0.611371	0.14323	N	0.326849	T	0.24044	0.0582	N	0.04508	-0.205	0.25078	N	0.990944	B;B;B;B;B;B;B;B	0.27951	0.0;0.001;0.0;0.088;0.115;0.001;0.0;0.195	B;B;B;B;B;B;B;B	0.30943	0.0;0.003;0.0;0.028;0.086;0.007;0.0;0.122	T	0.12682	-1.0538	9	0.05959	T	0.93	.	5.762	0.18205	0.1075:0.5844:0.2226:0.0855	.	988;988;1166;662;662;662;988;662	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	662;1166;988;988;662;988;988;988;662;1028;662;662	ENSP00000244364:R662K;ENSP00000359790:R1166K;ENSP00000359805:R988K;ENSP00000400883:R988K;ENSP00000393645:R662K;ENSP00000307959:R988K;ENSP00000359824:R988K;ENSP00000354508:R988K;ENSP00000404924:R662K;ENSP00000431030:R1028K;ENSP00000359801:R662K;ENSP00000431003:R662K	ENSP00000244364:R662K	R	-	2	0	DST	56606914	0.933000	0.31639	0.996000	0.52242	0.992000	0.81027	2.772000	0.47678	1.327000	0.45338	0.585000	0.79938	AGA		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1	93	438	0	105	1	9.997547e-01	24	34	0	105	2		0	0	0	0	0	2	1	1	91	433	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56500405	56500405	+	Silent	SNP	G	G	A	rs147124522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56500405G>A	ENST00000361203.3	-	20	2542	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D	DST_ENST00000370788.2_Silent_p.D845D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000370754.5_Silent_p.D1023D|DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000518935.1_Silent_p.D519D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000370769.4_Silent_p.D845D			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		CCTGAACAAGGTCTTCTAGCT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000361203.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1	26	130	0	37	1	9.949409e-01	11	34	0	37	2		0	0	0	0	0	2	1	9.999999e-01	24	127	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999917	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56504351	56504351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56504351G>A	ENST00000361203.3	-	17	2130	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000370754.5_Missense_Mutation_p.A886V|DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000312431.6_Missense_Mutation_p.A708V|DST_ENST00000518935.1_Missense_Mutation_p.A382V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000370769.4_Missense_Mutation_p.A708V			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		TTCATTAGTCGCACGACTTAC	0.353000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.9	4.681009	0.88542	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;D;D;T;D;T;T;D;T;T;T;T	0.94650	0.35;-3.48;-3.48;0.35;-3.48;0.35;0.35;-3.48;0.35;0.35;0.35;0.35	5.34	5.34	0.76211	.	0.000000	0.51477	D	0.000081	D	0.96676	0.8915	M	0.76433	2.335	0.33387	D	0.575589	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;P;D;D;D;D;D;P;D	0.83275	0.979;0.933;0.826;0.933;0.991;0.975;0.986;0.996;0.779;0.986	D	0.94922	0.8074	9	0.33141	T	0.24	.	19.2334	0.93849	0.0:0.0:1.0:0.0	.	737;708;708;886;824;382;382;382;708;382	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	382;886;708;708;382;708;708;708;382;748;382;382	ENSP00000244364:A382V;ENSP00000359790:A886V;ENSP00000359805:A708V;ENSP00000400883:A708V;ENSP00000393645:A382V;ENSP00000307959:A708V;ENSP00000359824:A708V;ENSP00000354508:A708V;ENSP00000404924:A382V;ENSP00000431030:A748V;ENSP00000359801:A382V;ENSP00000431003:A382V	ENSP00000244364:A382V	A	-	2	0	DST	56612310	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.657000	0.98554	2.781000	0.95711	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1	98	424	0	92	1	9.898268e-01	11	22	0	92	2		0	0	0	0	0	2	1	1	96	420	0	92	2								-20.000000	1	1	121410	6	40	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56505335	56505335	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56505335C>T	ENST00000361203.3	-	14	1470	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000370754.5_Missense_Mutation_p.R666H|DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000312431.6_Missense_Mutation_p.R488H|DST_ENST00000518935.1_Missense_Mutation_p.R162H|DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000370769.4_Missense_Mutation_p.R488H			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		TGTCAGTATGCGTCCTTTGCT	0.423000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.5	4.000343	0.74818	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.65	5.65	0.86999	.	0.111620	0.40554	N	0.001064	D	0.87358	0.6157	N	0.11064	0.09	0.28576	N	0.910365	B;B;D;B;B;B;P;D;B;D	0.89917	0.021;0.135;1.0;0.135;0.257;0.027;0.733;0.992;0.135;0.976	B;B;D;B;B;B;B;P;B;P	0.78314	0.004;0.019;0.991;0.019;0.039;0.007;0.163;0.795;0.019;0.548	D	0.84741	0.0751	9	0.15952	T	0.53	.	13.5198	0.61561	0.0:0.9205:0.0:0.0795	.	517;488;488;666;604;162;162;162;488;162	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	H	162;666;488;488;162;488;488;488;162;528;162;162;666	ENSP00000244364:R162H;ENSP00000359790:R666H;ENSP00000359805:R488H;ENSP00000400883:R488H;ENSP00000393645:R162H;ENSP00000307959:R488H;ENSP00000359824:R488H;ENSP00000354508:R488H;ENSP00000404924:R162H;ENSP00000431030:R528H;ENSP00000359801:R162H;ENSP00000431003:R162H;ENSP00000393082:R666H	ENSP00000244364:R162H	R	-	2	0	DST	56613294	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	2.398000	0.44486	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1	97	447	0	117	1	9.980286e-01	9	36	0	117	2		0	0	0	0	0	2	1	1	95	437	0	117	2								-3.271489	1	1	121412	2	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56516029	56516029	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56516029C>A	ENST00000361203.3	-	7	602	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	DST_ENST00000370788.2_Missense_Mutation_p.D199Y|DST_ENST00000421834.2_Missense_Mutation_p.D199Y|DST_ENST00000370754.5_Missense_Mutation_p.D377Y|DST_ENST00000312431.6_Missense_Mutation_p.D199Y|DST_ENST00000370769.4_Missense_Mutation_p.D199Y			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		GTATTCATATCTATCAGGTCC	0.343000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.26	3.584457	0.65992	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297	D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.56097	D	0.000021	D	0.98204	0.9406	.	.	.	0.39033	D	0.959982	D;D;D;D;D;D	0.89917	0.976;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.97110	0.756;1.0;0.999;0.999;0.999;1.0	D	0.98713	1.0705	8	0.87932	D	0	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	228;199;199;377;315;199	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	Y	377;199;199;199;199;199;239;377	ENSP00000359790:D377Y;ENSP00000359805:D199Y;ENSP00000400883:D199Y;ENSP00000307959:D199Y;ENSP00000359824:D199Y;ENSP00000354508:D199Y;ENSP00000431030:D239Y;ENSP00000393082:D377Y	ENSP00000307959:D199Y	D	-	1	0	DST	56623988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.786000	0.95864	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1	12	56	0	14	1	8.784665e-01	7	13	0	14	2		0	0	0	0	0	2	1	9.993544e-01	12	55	0	14	2								-19.996440	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.997676	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56535563	56535563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56535563C>T	ENST00000361203.3	-	6	464	c.457G>A	c.(457-459)Gca>Aca	p.A153T	DST_ENST00000370788.2_Missense_Mutation_p.A153T|DST_ENST00000421834.2_Missense_Mutation_p.A153T|DST_ENST00000370754.5_Missense_Mutation_p.A331T|DST_ENST00000312431.6_Missense_Mutation_p.A153T|DST_ENST00000370769.4_Missense_Mutation_p.A153T			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		CTCTCTTTTGCAGACATATCC	0.403000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544300	0.86022	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297;ENST00000522538;ENST00000523817	D;D;D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.87	4.87	0.63330	Calponin homology domain (4);	0.000000	0.52532	D	0.000061	D	0.98172	0.9396	M	0.91717	3.235	0.33638	D	0.606963	D;D;D;D;D;D	0.89917	0.999;0.999;0.995;1.0;0.999;0.999	D;D;D;D;D;D	0.81914	0.988;0.994;0.988;0.994;0.995;0.994	D	0.98869	1.0765	9	0.87932	D	0	.	18.5556	0.91083	0.0:1.0:0.0:0.0	.	182;153;153;331;269;153	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	T	331;153;153;153;153;153;193;331;104;146	ENSP00000359790:A331T;ENSP00000359805:A153T;ENSP00000400883:A153T;ENSP00000307959:A153T;ENSP00000359824:A153T;ENSP00000354508:A153T;ENSP00000431030:A193T;ENSP00000393082:A331T;ENSP00000429075:A104T;ENSP00000429221:A146T	ENSP00000307959:A153T	A	-	1	0	DST	56643522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.680000	0.91292	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1	13	73	0	31	1	9.258327e-01	13	15	0	31	2		0	0	0	0	0	2	1	9.995899e-01	13	70	0	31	2								-19.997150	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.940000	1.000000	1.000000	0.995883	0.990000	1	9.900000e-01	1
DST	667	broad.mit.edu	37	6	56716322	56716322	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56716322A>C	ENST00000370754.5	-	4	497	c.498T>G	c.(496-498)tcT>tcG	p.S166S	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		ATGCGGAGCCAGATTTCTGGC	0.512000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000370754.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	25	127	0	47	0	7.767072e-02	1	2	0	47	2		0	0	0	0	0	2	1	9.999999e-01	25	126	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999877	0.990000	1	9.900000e-01	1
BEND6	221336	broad.mit.edu	37	6	56857269	56857269	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56857269G>A	ENST00000370746.3	+	3	483	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370748.3_Missense_Mutation_p.A72T|BEND6_ENST00000370745.1_Missense_Mutation_p.A72T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6			17					AGAATTGTGCGCCAAAATAAA	0.413000																								0							SO:0001583	missense			ENST00000370746.3	1	1	hg19	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195656	0.22037	5.51E-4	0.0	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.04	-2.23	0.06930	.	0.684405	0.13848	N	0.358570	T	0.09818	0.0241	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40813	-0.9543	9	0.02654	T	1	0.3172	10.0363	0.42131	0.3402:0.0:0.6598:0.0	.	72	Q5SZJ8	BEND6_HUMAN	T	72	.	ENSP00000322773:A72T	A	+	1	0	BEND6	56965228	0.944000	0.32072	0.741000	0.31004	0.960000	0.62799	0.361000	0.20267	-0.276000	0.09206	-0.137000	0.14449	GCC		TCGA-IB-7651-01A-11D-2154-08	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	0	0	1	138	654	1	137	0	3.537224e-01	0	7	1	137	2		0	0	0	0	0	2	1	1	136	646	1	136	19								-20.000000	1	1	120788	11	46	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF451	26036	broad.mit.edu	37	6	57012453	57012453	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012453G>T	ENST00000370706.4	+	10	1814	c.1570G>T	c.(1570-1572)Gca>Tca	p.A524S	RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.A524S|ZNF451_ENST00000357489.3_Missense_Mutation_p.A524S|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451			32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		TCACGGAGGGGCACATTTAAA	0.403000																								0							SO:0001583	missense			ENST00000370706.4	1	0	hg19	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557298	0.86231	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.09255	3.0;3.0;3.0	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.996;0.999;0.996	T	0.01972	-1.1237	10	0.56958	D	0.05	-14.6963	19.216	0.93778	0.0:0.0:1.0:0.0	.	524;524;524;524	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	S	524	ENSP00000359740:A524S;ENSP00000350083:A524S;ENSP00000421645:A524S	ENSP00000350083:A524S	A	+	1	0	ZNF451	57120412	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.035000	0.93752	2.529000	0.85273	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	0	0	1	218	981	1	215	1	9.987426e-01	3	43	1	215	2		0	0	0	0	0	2	1	1	215	960	1	213	19								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRN1	51299	broad.mit.edu	37	6	6002641	6002641	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6002641T>C	ENST00000244766.2	-	2	362	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1			8	Ovarian(93;0.0816)	all_hematologic(90;0.151)			TAGTTGGCCATGCTGTCGCCC	0.617000																								0							SO:0001583	missense			ENST00000244766.2	1	1	hg19	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341319	0.41498	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42245	1.32	0.46203	D	0.998925	B	0.02656	0.0	B	0.04013	0.001	T	0.38929	-0.9638	9	0.40728	T	0.16	-9.5493	11.209	0.48786	0.0:0.0:0.0:1.0	.	49	Q9NPD7	NRN1_HUMAN	V	49	.	ENSP00000244766:M49V	M	-	1	0	NRN1	5947640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	1.773000	0.52216	0.379000	0.24179	ATG		TCGA-IB-7651-01A-11D-2154-08	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1	1	0	1	108	455	0	116	0	7.015829e-01	0	12	0	116	2		0	0	0	0	0	2	1	1	108	448	0	116	2								-20.000000	1	1	121412	1	29	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
F13A1	2162	broad.mit.edu	37	6	6305593	6305593	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6305593A>G	ENST00000264870.3	-	3	575	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide			62	Ovarian(93;0.0816)	all_hematologic(90;0.152)		L-Glutamine(DB00130)	CCAATGACGTATTCCACCCTG	0.488000																								0							SO:0001583	missense			ENST00000264870.3	1	1	hg19	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224353	0.79576	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.84800	-1.9;-1.9	5.57	5.57	0.84162	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.061981	0.64402	D	0.000002	D	0.88706	0.6509	M	0.63428	1.95	0.43637	D	0.996032	D	0.76494	0.999	D	0.75020	0.985	D	0.89982	0.4101	10	0.62326	D	0.03	.	13.6975	0.62589	1.0:0.0:0.0:0.0	.	104	P00488	F13A_HUMAN	H	104;104;142	ENSP00000264870:Y104H;ENSP00000413334:Y104H	ENSP00000264870:Y104H	Y	-	1	0	F13A1	6250592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.254000	0.65457	2.117000	0.64856	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	1	0	1	47	231	0	61	0	9.999752e-01	0	81	0	61	2		0	0	0	0	0	2	1	1	47	226	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LGSN	51557	broad.mit.edu	37	6	63990245	63990245	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990245C>T	ENST00000370657.4	-	4	1244	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain			34					ATTTTCTATCCGGGTGCCTTT	0.448000																								0							SO:0001583	missense			ENST00000370657.4	1	1	hg19	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576455	0.13686	2.27E-4	0.0	ENSG00000146166	ENST00000370657	D	0.89617	-2.54	5.96	2.76	0.32466	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.249758	0.46145	N	0.000315	T	0.59211	0.2177	N	0.10837	0.055	0.80722	D	1	B	0.21688	0.059	B	0.15052	0.012	T	0.60182	-0.7313	10	0.56958	D	0.05	-9.1962	2.0179	0.03502	0.2492:0.3787:0.0:0.3721	.	404	Q5TDP6	LGSN_HUMAN	Q	404	ENSP00000359691:R404Q	ENSP00000359691:R404Q	R	-	2	0	LGSN	64048204	0.928000	0.31464	0.925000	0.36789	0.019000	0.09904	1.550000	0.36223	0.808000	0.34231	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	1	0	1	88	535	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1	87	525	0	123	2								-2.841707	1	1	121412	29	47	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGSN	51557	broad.mit.edu	37	6	63990442	63990442	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990442C>T	ENST00000370657.4	-	4	1047	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	LGSN_ENST00000370658.5_Missense_Mutation_p.R198Q			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain			34					TCCCAGTGATCGTGAGCTGCT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000370657.4	1	1	hg19	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755162	0.31046	.	.	ENSG00000146166	ENST00000370658	T	0.29655	1.56	5.55	-4.6	0.03390	.	.	.	.	.	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.40365	-0.9567	8	0.29301	T	0.29	-8.7929	7.2324	0.26051	0.0:0.1424:0.351:0.5066	.	198	Q5TDP6-2	.	Q	198	ENSP00000359692:R198Q	ENSP00000359692:R198Q	R	-	2	0	LGSN	64048401	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-2.323000	0.01117	-0.523000	0.06409	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	1	0	1	105	421	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	102	414	0	86	2								-20.000000	1	1	121412	3	37	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGSN	51557	broad.mit.edu	37	6	64004878	64004878	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004878C>A	ENST00000370657.4	-	2	136	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	LGSN_ENST00000370658.5_Missense_Mutation_p.V35F			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain			34					GGTTTAGTGACTTTCTTCCTT	0.383000																								0							SO:0001583	missense			ENST00000370657.4	1	1	hg19	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741295	0.30865	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.31510	1.49;1.58	4.71	3.81	0.43845	.	0.617997	0.16143	N	0.227638	T	0.31734	0.0806	M	0.61703	1.905	0.30343	N	0.785487	D;P;B	0.63046	0.992;0.828;0.435	P;P;B	0.59487	0.858;0.576;0.303	T	0.13019	-1.0525	10	0.72032	D	0.01	-5.3792	9.4806	0.38898	0.0:0.8938:0.0:0.1062	.	35;35;35	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	F	35	ENSP00000359692:V35F;ENSP00000359691:V35F	ENSP00000359691:V35F	V	-	1	0	LGSN	64062837	0.993000	0.37304	0.991000	0.47740	0.050000	0.14768	1.937000	0.40193	1.041000	0.40125	0.591000	0.81541	GTC		TCGA-IB-7651-01A-11D-2154-08	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	1	0	1	61	343	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	61	332	0	78	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LGSN	51557	broad.mit.edu	37	6	64004931	64004931	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004931C>T	ENST00000370657.4	-	2	83	c.50G>A	c.(49-51)gGc>gAc	p.G17D	LGSN_ENST00000370658.5_Missense_Mutation_p.G17D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain			34					AGTCTCATTGCCTTCATCTCT	0.343000																								0							SO:0001583	missense			ENST00000370657.4	1	1	hg19	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.339613	0.01277	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.29917	1.55;1.71	4.71	-3.36	0.04913	.	1.469430	0.03347	N	0.195606	T	0.06142	0.0159	L	0.28115	0.83	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.0	T	0.24941	-1.0146	10	0.42905	T	0.14	-0.0486	2.1585	0.03819	0.1468:0.2274:0.1273:0.4985	.	17;17;17	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	D	17	ENSP00000359692:G17D;ENSP00000359691:G17D	ENSP00000359691:G17D	G	-	2	0	LGSN	64062890	0.000000	0.05858	0.044000	0.18714	0.045000	0.14185	-1.711000	0.01886	-0.751000	0.04734	-0.218000	0.12543	GGC		TCGA-IB-7651-01A-11D-2154-08	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	1	0	1	49	266	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	49	262	0	62	2								-19.999960	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PTP4A1	7803	broad.mit.edu	37	6	64289169	64289169	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64289169G>T	ENST00000370651.3	+	5	1490	c.337G>T	c.(337-339)Gta>Tta	p.V113L	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1			8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)		CAGAGCTCCAGTACTTGTTGC	0.328000													Pancreas(91;1019 1502 28028 38110 51645)											0							SO:0001583	missense			ENST00000370651.3	1	1	hg19	CCDS4965.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520784	0.85495	.	.	ENSG00000112245	ENST00000370651	D	0.85088	-1.94	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.80028	2.48	0.80722	D	1	B	0.19445	0.036	B	0.30646	0.118	T	0.81807	-0.0763	10	0.62326	D	0.03	-15.7504	20.394	0.98981	0.0:0.0:1.0:0.0	.	113	Q93096	TP4A1_HUMAN	L	113	ENSP00000359685:V113L	ENSP00000359685:V113L	V	+	1	0	PTP4A1	64347128	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.966000	0.87956	2.830000	0.97506	0.585000	0.79938	GTA		TCGA-IB-7651-01A-11D-2154-08	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2	1	0	1	67	316	0	62	1	1	107	412	0	62	2		0	0	0	0	0	2	1	1	66	313	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF3	23469	broad.mit.edu	37	6	64394104	64394104	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64394104G>T	ENST00000262043.3	+	4	821	c.481G>T	c.(481-483)Gca>Tca	p.A161S	PHF3_ENST00000393387.1_Missense_Mutation_p.A161S|PHF3_ENST00000509330.1_Missense_Mutation_p.A161S			Q92576	PHF3_HUMAN	PHD finger protein 3			75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		CACAAAAAAAGCATCTGGGAA	0.393000													GBM(135;136 1820 29512 34071 46235)											0							SO:0001583	missense			ENST00000262043.3	1	1	hg19	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643124	0.14451	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.41400	2.01;2.32;2.01;1.0;2.32	5.69	1.84	0.25277	.	0.563095	0.13620	N	0.374471	T	0.09774	0.0240	L	0.38531	1.155	0.20307	N	0.999911	B;B	0.31435	0.031;0.323	B;B	0.26770	0.008;0.073	T	0.35051	-0.9804	10	0.15066	T	0.55	-5.3199	6.3407	0.21321	0.0696:0.3046:0.4872:0.1386	.	161;161	Q92576;D6R9X2	PHF3_HUMAN;.	S	73;161;114;161;161;91	ENSP00000425227:A73S;ENSP00000262043:A161S;ENSP00000424078:A114S;ENSP00000422841:A161S;ENSP00000377048:A161S	ENSP00000262043:A161S	A	+	1	0	PHF3	64452063	0.992000	0.36948	0.835000	0.33067	0.985000	0.73830	0.067000	0.14510	-0.158000	0.11040	-0.810000	0.03169	GCA		TCGA-IB-7651-01A-11D-2154-08	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	1	0	1	152	667	0	215	1	9.999458e-01	13	50	0	215	2		0	0	0	0	1	2	1	1	148	658	0	215	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF3	23469	broad.mit.edu	37	6	64410340	64410340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64410340G>A	ENST00000262043.3	+	9	3423	c.3083G>A	c.(3082-3084)cGa>cAa	p.R1028Q	PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q			Q92576	PHF3_HUMAN	PHD finger protein 3			75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		GCTTGGAGACGAAGAGAAAAC	0.313000													GBM(135;136 1820 29512 34071 46235)											0							SO:0001583	missense			ENST00000262043.3	1	1	hg19	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554481	0.65425	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.40225	2.32;1.04;2.35;2.35	5.26	5.26	0.73747	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (2);	0.000000	0.30410	N	0.009690	T	0.05823	0.0152	N	0.01631	-0.79	0.35713	D	0.816557	B	0.21147	0.052	B	0.15870	0.014	T	0.27806	-1.0063	10	0.17832	T	0.49	-8.7725	6.8689	0.24108	0.2167:0.0:0.7833:0.0	.	1028	Q92576	PHF3_HUMAN	Q	842;297;1028;1028	ENSP00000424694:R842Q;ENSP00000425338:R297Q;ENSP00000262043:R1028Q;ENSP00000377048:R1028Q	ENSP00000262043:R1028Q	R	+	2	0	PHF3	64468299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.478000	0.60230	2.456000	0.83038	0.467000	0.42956	CGA		TCGA-IB-7651-01A-11D-2154-08	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	1	0	1	32	293	0	56	1	9.994090e-01	8	98	0	56	2		0	0	0	0	0	2	1	1	31	289	0	56	2								-3.142702	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.800000	1.000000	1.000000	0.980007	0.990000	1	9.500000e-01	1
PHF3	23469	broad.mit.edu	37	6	64422753	64422753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64422753G>T	ENST00000262043.3	+	16	5609	c.5269G>T	c.(5269-5271)Gga>Tga	p.G1757*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*			Q92576	PHF3_HUMAN	PHD finger protein 3			75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		ATTTCGAAGAGGATCAGCAGT	0.403000													GBM(135;136 1820 29512 34071 46235)											0							SO:0001587	stop_gained			ENST00000262043.3	0	1	hg19	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	43	10.083548	0.99332	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	.	.	.	5.97	5.97	0.96955	.	0.000000	0.38663	N	0.001604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.7549	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	1757	.	.	G	+	1	0	PHF3	64480712	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	6.716000	0.74702	2.836000	0.97738	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	1	0	0	91	462	1	104	1	9.999957e-01	34	124	1	104	7		0	0	0	0	0	2	1	1	87	456	1	103	18								-2.887536	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HUS1B	135458	broad.mit.edu	37	6	656306	656306	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656306C>T	ENST00000380907.2	-	1	657	c.639G>A	c.(637-639)tcG>tcA	p.S213S	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)			11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)			CACCCACAGCCGACTGGGGAG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000380907.2	1	1	hg19	CCDS4470.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	1	0	1	188	780	0	171		0	0	0	0	171	2		0	0	0	0	0	2	1	1	183	768	0	168	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HUS1B	135458	broad.mit.edu	37	6	656841	656841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656841C>T	ENST00000380907.2	-	1	122	c.104G>A	c.(103-105)cGc>cAc	p.R35H	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)			11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)			GCTGTCAGGGCGCACGCGGAG	0.667000																								0							SO:0001583	missense			ENST00000380907.2	1	1	hg19	CCDS4470.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697071	0.30142	.	.	ENSG00000188996	ENST00000380907	T	0.11277	2.79	2.77	1.85	0.25348	.	0.428272	0.20386	U	0.093349	T	0.02494	0.0076	L	0.29908	0.895	0.09310	N	1	P	0.46277	0.875	B	0.39590	0.304	T	0.42292	-0.9460	10	0.44086	T	0.13	.	7.4847	0.27425	0.0:0.7314:0.2686:0.0	.	35	Q8NHY5	HUS1B_HUMAN	H	35	ENSP00000370293:R35H	ENSP00000370293:R35H	R	-	2	0	HUS1B	601841	0.053000	0.20554	0.001000	0.08648	0.012000	0.07955	0.084000	0.14891	0.709000	0.31976	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	1	0	1	42	155	0	17	0	0	0	1	0	17	2		0	0	0	0	0	2	1	1	42	155	0	16	2								-20.000000	1	1	121322	1	25	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EYS	346007	broad.mit.edu	37	6	66053985	66053985	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66053985G>A	ENST00000370621.3	-	10	2071	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	EYS_ENST00000370618.3_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000503581.1_Silent_p.N515N|EYS_ENST00000342421.5_Silent_p.N515N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)			69					CTTCAGGATCGTTCACATAGG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000370621.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1	60	273	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	59	268	0	68	2								-20.000000	1	1	121390	1	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EYS	346007	broad.mit.edu	37	6	66063417	66063417	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063417A>C	ENST00000370621.3	-	9	1919	c.1393T>G	c.(1393-1395)Ttc>Gtc	p.F465V	EYS_ENST00000370618.3_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000503581.1_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)			69					ATACCATGGAAGGTGACTCCA	0.368000																								0							SO:0001583	missense			ENST00000370621.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	a	5.754	0.323466	0.10900	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	4.14	1.69	0.24217	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.11329	0.006;0.004;0.005	T	0.47849	-0.9085	9	0.17369	T	0.5	.	3.4856	0.07618	0.6336:0.0:0.1204:0.2461	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	465	ENSP00000424243:F465V;ENSP00000359655:F465V;ENSP00000359650:F465V;ENSP00000377042:F465V;ENSP00000341818:F465V;ENSP00000359652:F465V	ENSP00000341818:F465V	F	-	1	0	EYS	66120138	0.011000	0.17503	0.001000	0.08648	0.009000	0.06853	1.014000	0.29950	0.063000	0.16370	-0.326000	0.08463	TTC		TCGA-IB-7651-01A-11D-2154-08	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1	63	330	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	63	320	0	63	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EYS	346007	broad.mit.edu	37	6	66063454	66063454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063454G>T	ENST00000370621.3	-	9	1882	c.1356C>A	c.(1354-1356)taC>taA	p.Y452*	EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000503581.1_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)			69					GATGAATTAGGTAAACATTCT	0.368000																								0							SO:0001587	stop_gained			ENST00000370621.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	g	36	5.640997	0.96693	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.14	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.5793	0.07946	0.3058:0.0:0.6942:0.0	.	.	.	.	X	452	.	ENSP00000341818:Y452X	Y	-	3	2	EYS	66120175	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.467000	0.22035	1.855000	0.53841	0.591000	0.81541	TAC		TCGA-IB-7651-01A-11D-2154-08	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1	59	301	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	58	292	0	65	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EYS	346007	broad.mit.edu	37	6	66205048	66205048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66205048C>T	ENST00000370621.3	-	4	782	c.256G>A	c.(256-258)Gat>Aat	p.D86N	EYS_ENST00000370618.3_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000503581.1_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)			69					ACAAGGATATCTCCTAATTGA	0.363000																								0							SO:0001583	missense			ENST00000370621.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043179	0.55003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.91180	-2.14;-2.13;-2.13;-2.8;-2.77;-2.77	4.92	3.1	0.35709	.	.	.	.	.	T	0.82107	0.4965	N	0.24115	0.695	0.23381	N	0.997799	D;D;D	0.65815	0.971;0.995;0.991	P;P;P	0.59288	0.805;0.855;0.813	T	0.73487	-0.3967	9	0.30078	T	0.28	.	7.7935	0.29133	0.0:0.8008:0.0:0.1992	.	86;86;86	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	86	ENSP00000424243:D86N;ENSP00000359655:D86N;ENSP00000359650:D86N;ENSP00000377042:D86N;ENSP00000341818:D86N;ENSP00000359652:D86N	ENSP00000341818:D86N	D	-	1	0	EYS	66261769	1.000000	0.71417	0.312000	0.25196	0.448000	0.32197	3.507000	0.53371	0.555000	0.29079	0.591000	0.81541	GAT		TCGA-IB-7651-01A-11D-2154-08	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1	72	419	0	113		0	0	0	0	113	2	0	0	0	1	0	0	2	1	1	71	413	0	113	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAI3	577	broad.mit.edu	37	6	69653757	69653757	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69653757T>G	ENST00000370598.1	+	6	1887	c.1066T>G	c.(1066-1068)Tta>Gta	p.L356V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3			210		all_lung(197;0.212)			ACCATGGAGTTTATGTTCATT	0.423000																								0							SO:0001583	missense			ENST00000370598.1	0	1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762932	0.69763	.	.	ENSG00000135298	ENST00000370598	T	0.52754	0.65	5.16	1.52	0.23074	.	0.000000	0.64402	D	0.000004	T	0.23133	0.0559	N	0.04805	-0.155	0.80722	D	1	D	0.61697	0.99	P	0.60173	0.87	T	0.06789	-1.0807	10	0.31617	T	0.26	.	9.3381	0.38062	0.0:0.187:0.0:0.813	.	356	O60242	BAI3_HUMAN	V	356	ENSP00000359630:L356V	ENSP00000359630:L356V	L	+	1	2	BAI3	69710478	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	2.086000	0.41643	0.116000	0.18110	0.528000	0.53228	TTA		TCGA-IB-7651-01A-11D-2154-08	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	0	0	0	12	642	0	102	0	0	0	1	0	102	2		0	0	0	0	0	2	1	9.990271e-01	11	632	0	101	2								-9.365692	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.210000	0.110000	0.360000	0.210000	0.228522	0.210000	0	1.600000e-01	2.900000e-01
BAI3	577	broad.mit.edu	37	6	69949063	69949063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949063C>T	ENST00000370598.1	+	20	3580	c.2759C>T	c.(2758-2760)tCt>tTt	p.S920F	BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3			210		all_lung(197;0.212)			TTCTGCCTGTCTATCATCTCA	0.348000																								0							SO:0001583	missense			ENST00000370598.1	1	1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722341	0.89298	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55413	0.52;0.52	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.91635	0.996;0.99;0.999	T	0.79366	-0.1833	10	0.87932	D	0	.	18.5605	0.91098	0.0:1.0:0.0:0.0	.	126;920;920	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	F	920;126	ENSP00000359630:S920F;ENSP00000238918:S126F	ENSP00000238918:S126F	S	+	2	0	BAI3	70005784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.362000	0.80069	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	1	0	1	98	522	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1	98	517	0	160	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAI3	577	broad.mit.edu	37	6	70070821	70070821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70070821T>G	ENST00000370598.1	+	29	4477	c.3656T>G	c.(3655-3657)aTt>aGt	p.I1219S	BAI3_ENST00000238918.8_Missense_Mutation_p.I425S|BAI3_ENST00000546190.1_Missense_Mutation_p.I183S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3			210		all_lung(197;0.212)			CTTTCTAGGATTTCTCTAAAT	0.393000																								0							SO:0001583	missense			ENST00000370598.1	1	1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932263	0.73442	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.47177	2.02;2.63;0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.37630	1.12	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.72982	0.979;0.915	T	0.41627	-0.9498	10	0.02654	T	1	.	15.8023	0.78463	0.0:0.0:0.0:1.0	.	425;1219	B7Z356;O60242	.;BAI3_HUMAN	S	1219;425;183	ENSP00000359630:I1219S;ENSP00000238918:I425S;ENSP00000441821:I183S	ENSP00000238918:I425S	I	+	2	0	BAI3	70127542	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.698000	0.84413	2.126000	0.65437	0.482000	0.46254	ATT		TCGA-IB-7651-01A-11D-2154-08	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	1	0	1	68	389	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	66	382	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL19A1	1310	broad.mit.edu	37	6	70608839	70608839	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70608839G>A	ENST00000322773.4	+	3	193		c.e3-1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1			109					TTTTTAAATAGAAGAGTCATG	0.308000																								0							SO:0001630	splice_region_variant			ENST00000322773.4	1	1	hg19	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263867	0.23136	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1338	0.72545	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70665560	0.997000	0.39634	0.935000	0.37517	0.032000	0.12392	2.586000	0.46119	2.721000	0.93114	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1	1	0	1	39	184	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	39	182	0	55	2								-3.233648	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
COL19A1	1310	broad.mit.edu	37	6	70852662	70852662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70852662C>T	ENST00000322773.4	+	23	1678	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1			109					ATTTTAGGGTCAGCAAGGATC	0.368000																								0							SO:0001587	stop_gained			ENST00000322773.4	0	1	hg19	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928743	0.92389	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.27	5.27	0.74061	.	0.157235	0.42053	D	0.000772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.4175	0.83746	0.0:1.0:0.0:0.0	.	.	.	.	X	526;148	.	ENSP00000316030:Q526X	Q	+	1	0	COL19A1	70909383	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	2.243000	0.43115	2.613000	0.88420	0.585000	0.79938	CAG		TCGA-IB-7651-01A-11D-2154-08	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1	1	0	1	48	252	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	45	248	0	68	2								-19.999950	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
COL19A1	1310	broad.mit.edu	37	6	70866246	70866246	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70866246A>G	ENST00000322773.4	+	33	2325	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	COL19A1_ENST00000393344.1_Silent_p.G363G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1			109					GAATCCCAGGAAGAGAGGGAC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000322773.4	1	1	hg19	CCDS4970.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1	1	0	1	69	330	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	68	326	0	103	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL9A1	1297	broad.mit.edu	37	6	70964196	70964196	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70964196C>T	ENST00000357250.6	-	25	1860	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R|COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1			80					CCCTGCAATCCTGCATCACCA	0.373000																								0							SO:0001583	missense			ENST00000357250.6	1	1	hg19	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249956	0.59212	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99454	4.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96439	0.9325	10	0.87932	D	0	.	18.1361	0.89619	0.0:1.0:0.0:0.0	.	568;325;141	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	R	568;325;325	ENSP00000349790:G568R;ENSP00000315252:G325R;ENSP00000359530:G325R	ENSP00000315252:G325R	G	-	1	0	COL9A1	71020917	0.999000	0.42202	0.262000	0.24481	0.990000	0.78478	6.026000	0.70873	2.713000	0.92767	0.591000	0.81541	GGA		TCGA-IB-7651-01A-11D-2154-08	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2	1	0	1	55	213	0	67	0	4.423512e-01	0	7	0	67	2		0	0	0	0	0	2	1	1	54	209	0	67	2								-3.213263	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL9A1	1297	broad.mit.edu	37	6	70972947	70972947	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70972947T>C	ENST00000357250.6	-	19	1553	c.1395A>G	c.(1393-1395)ccA>ccG	p.P465P	COL9A1_ENST00000320755.7_Splice_Site_p.P222P|COL9A1_ENST00000370499.4_Splice_Site_p.P222P|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1			80					aataCTTTACTGGAGGTCCTT	0.318000																								0							SO:0001630	splice_region_variant			ENST00000357250.6	1	0	hg19	CCDS4971.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2	1	0	1	27	113	0	22	0	4.137595e-01	0	7	0	22	2		0	0	0	0	0	2	1	1	26	112	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
FAM135A	57579	broad.mit.edu	37	6	71235308	71235308	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71235308A>C	ENST00000418814.2	+	15	3135	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A			38					GACATCCATAAACTCTCTACC	0.323000																								0							SO:0001583	missense			ENST00000418814.2	1	1	hg19	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234751	0.58886	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.999	T	0.59663	-0.7412	10	0.51188	T	0.08	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	841;841;645;628	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	H	841;628;628;645;841	ENSP00000410768:N841H;ENSP00000359510:N628H;ENSP00000409201:N628H;ENSP00000354913:N645H;ENSP00000423307:N841H	ENSP00000354913:N645H	N	+	1	0	FAM135A	71292029	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.843000	0.92142	2.289000	0.77006	0.482000	0.46254	AAC		TCGA-IB-7651-01A-11D-2154-08	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	1	45	174	0	58	1	9.999999e-01	45	58	0	58	2		0	0	0	0	0	2	1	1	43	170	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM135A	57579	broad.mit.edu	37	6	71236360	71236360	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71236360G>A	ENST00000418814.2	+	15	4187	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	FAM135A_ENST00000370479.3_Silent_p.S978S|FAM135A_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000361499.3_Silent_p.S995S|FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000505868.1_Silent_p.S1191S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A			38					TCACTTCTTCGATTTCCTGGT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000418814.2	1	1	hg19	CCDS55028.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	1	64	327	0	69	1	1	73	129	0	69	2		0	0	0	0	0	2	1	1	61	318	0	69	2								-3.238340	1	1	121396	6	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM135A	57579	broad.mit.edu	37	6	71243497	71243497	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71243497G>A	ENST00000418814.2	+	18	4519	c.3905G>A	c.(3904-3906)cGt>cAt	p.R1302H	FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H|FAM135A_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	p.R1089H(1)		38					ATGACTGATCGTCTTTTGGAT	0.254000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000418814.2	1	1	hg19	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019663	0.93462	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.15	5.15	0.70609	Domain of unknown function DUF676, lipase-like (1);	0.106313	0.64402	D	0.000004	T	0.77890	0.4198	M	0.88704	2.975	0.80722	D	1	P;D;D;D;D	0.89917	0.902;1.0;1.0;0.998;1.0	P;D;D;P;D	0.97110	0.701;0.999;1.0;0.862;0.984	T	0.81586	-0.0865	10	0.62326	D	0.03	.	18.9956	0.92812	0.0:0.0:1.0:0.0	.	882;1302;1302;1106;1089	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	H	1302;1089;882;1089;1106;1302	ENSP00000410768:R1302H;ENSP00000359510:R1089H;ENSP00000423785:R882H;ENSP00000409201:R1089H;ENSP00000354913:R1106H;ENSP00000423307:R1302H	ENSP00000354913:R1106H	R	+	2	0	FAM135A	71300218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.911000	0.87458	2.553000	0.86117	0.557000	0.71058	CGT		TCGA-IB-7651-01A-11D-2154-08	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	1	15	82	0	27	1	9.999915e-01	47	80	0	27	2		0	0	0	0	0	2	1	9.999104e-01	15	81	0	27	2								-10.547450	1	1	121344	3	31	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.997768	0.990000	1	9.900000e-01	1
FAM135A	57579	broad.mit.edu	37	6	71245970	71245970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71245970G>A	ENST00000418814.2	+	19	4587	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R	FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R|FAM135A_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R|FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A			38					AAGCTTTATTGGACATTCGTT	0.318000																								0							SO:0001583	missense			ENST00000418814.2	1	1	hg19	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980492	0.92982	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.51	5.51	0.81932	Domain of unknown function DUF676, lipase-like (1);	0.096119	0.64402	D	0.000001	D	0.86744	0.6006	M	0.91038	3.17	0.80722	D	1	P;D;D;D;D	0.89917	0.933;1.0;1.0;0.981;1.0	D;D;D;D;D	0.97110	0.921;0.987;1.0;0.914;0.988	D	0.89187	0.3548	10	0.87932	D	0	.	19.4777	0.94995	0.0:0.0:1.0:0.0	.	905;1325;1325;1129;1112	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	R	1325;1112;905;1112;1129;1325	ENSP00000410768:G1325R;ENSP00000359510:G1112R;ENSP00000423785:G905R;ENSP00000409201:G1112R;ENSP00000354913:G1129R;ENSP00000423307:G1325R	ENSP00000354913:G1129R	G	+	1	0	FAM135A	71302691	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.766000	0.98957	2.575000	0.86900	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	1	0	1	55	290	0	68	1	1	73	105	0	68	2		0	0	0	0	0	2	1	1	54	283	0	68	2								-3.235216	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OGFRL1	79627	broad.mit.edu	37	6	72011229	72011229	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72011229G>T	ENST00000370435.4	+	7	967	c.833G>T	c.(832-834)aGt>aTt	p.S278I	RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1			13					ATTAAGCAGAGTGCTCTAGAG	0.383000																								0							SO:0001583	missense			ENST00000370435.4	1	1	hg19	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463810	0.84425	.	.	ENSG00000119900	ENST00000370435	T	0.55234	0.53	6.04	6.04	0.98038	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73161	-0.4070	10	0.87932	D	0	-26.5249	20.5948	0.99439	0.0:0.0:1.0:0.0	.	278	Q5TC84	OGRL1_HUMAN	I	278	ENSP00000359464:S278I	ENSP00000359464:S278I	S	+	2	0	OGFRL1	72067950	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	AGT		TCGA-IB-7651-01A-11D-2154-08	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	0	0	1	140	609	0	163	1	1	8	96	0	163	2		0	0	0	0	0	2	1	1	136	599	0	159	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RREB1	6239	broad.mit.edu	37	6	7211110	7211110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7211110C>T	ENST00000349384.6	+	7	813	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RREB1_ENST00000379938.2_Nonsense_Mutation_p.R167*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			GAAACGTAGGCGATTGTCCTC	0.507000																								0							SO:0001587	stop_gained			ENST00000349384.6	0	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427465	0.83667	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.29	4.41	0.53225	.	0.000000	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.4759	12.2018	0.54331	0.3093:0.6907:0.0:0.0	.	.	.	.	X	167	.	ENSP00000335574:R167X	R	+	1	2	RREB1	7156109	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.004000	0.40854	1.228000	0.43614	0.585000	0.79938	CGA		TCGA-IB-7651-01A-11D-2154-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1	108	512	0	171	1	9.985651e-01	9	39	0	171	2		0	0	0	0	0	2	1	1	104	493	0	171	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RREB1	6239	broad.mit.edu	37	6	7229595	7229595	+	Silent	SNP	C	C	T	rs140980354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229595C>T	ENST00000349384.6	+	10	1577	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	RREB1_ENST00000379938.2_Silent_p.G421G|RREB1_ENST00000334984.6_Silent_p.G421G|RREB1_ENST00000379933.3_Silent_p.G421G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			CTTCCCTAGGCGGTTCTCTCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000349384.6	1	1	hg19	CCDS34336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1	66	262	0	72	1	9.997202e-01	14	37	0	72	2		0	0	0	0	0	2	1	1	66	257	0	72	2								-3.583319	1	1	121412	19	44	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RREB1	6239	broad.mit.edu	37	6	7229879	7229879	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229879G>T	ENST00000349384.6	+	10	1861	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	RREB1_ENST00000379938.2_Missense_Mutation_p.R516L|RREB1_ENST00000334984.6_Missense_Mutation_p.R516L|RREB1_ENST00000379933.3_Missense_Mutation_p.R516L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			GTCACACCACGGACGGTGGTG	0.677000																								0							SO:0001583	missense			ENST00000349384.6	1	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782722	0.70222	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.14144	2.58;2.53;2.58;2.55;2.78	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000025	T	0.28532	0.0706	M	0.69823	2.125	0.50171	D	0.999857	D;D;D	0.71674	0.992;0.998;0.997	P;P;P	0.62298	0.882;0.9;0.851	T	0.00998	-1.1486	10	0.52906	T	0.07	-31.7759	19.7629	0.96329	0.0:0.0:1.0:0.0	.	516;516;516	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	516	ENSP00000369265:R516L;ENSP00000369270:R516L;ENSP00000305560:R516L;ENSP00000335574:R516L;ENSP00000419511:R516L	ENSP00000335574:R516L	R	+	2	0	RREB1	7174878	1.000000	0.71417	0.101000	0.21167	0.862000	0.49288	9.302000	0.96175	2.666000	0.90696	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	0	65	1297	0	253	1	3.937025e-01	2	26	0	253	2		0	0	0	0	0	2	1	1	64	1274	0	248	2								-2.841472	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.550000	0.420000	0.690000	0.550000	0.558343	0.550000	0	4.800000e-01	6.200000e-01
RREB1	6239	broad.mit.edu	37	6	7230407	7230407	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7230407C>T	ENST00000349384.6	+	10	2389	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	RREB1_ENST00000379938.2_Missense_Mutation_p.T692M|RREB1_ENST00000334984.6_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			CACCTGCGCACGCACAGTGGG	0.637000																								0							SO:0001583	missense			ENST00000349384.6	1	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500948	0.64298	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.54	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.25606	0.0623	L	0.39020	1.185	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.03597	-1.1021	10	0.54805	T	0.06	-40.0095	14.2575	0.66062	0.0:0.9293:0.0:0.0707	.	692;692;692	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	692	ENSP00000369265:T692M;ENSP00000369270:T692M;ENSP00000305560:T692M;ENSP00000335574:T692M;ENSP00000419511:T692M	ENSP00000335574:T692M	T	+	2	0	RREB1	7175406	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	4.656000	0.61483	1.570000	0.49709	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1	46	271	0	62	1	9.861423e-01	11	31	0	62	2		0	0	0	0	0	2	1	1	45	268	0	60	2								-20.000000	1	1	121410	1	27	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
RREB1	6239	broad.mit.edu	37	6	7232026	7232026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7232026C>T	ENST00000349384.6	+	10	4008	c.3694C>T	c.(3694-3696)Ctg>Ttg	p.L1232L	RREB1_ENST00000379938.2_Silent_p.L1232L|RREB1_ENST00000334984.6_Silent_p.L1232L|RREB1_ENST00000379933.3_Silent_p.L1232L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			AGACAAGCTGCTGAGGGCCAA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000349384.6	1	1	hg19	CCDS34336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1	38	163	0	42	1	9.999890e-01	27	52	0	42	2		0	0	0	0	0	2	1	1	38	156	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RREB1	6239	broad.mit.edu	37	6	7247318	7247318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7247318C>T	ENST00000349384.6	+	11	4784	c.4470C>T	c.(4468-4470)gaC>gaT	p.D1490D	RREB1_ENST00000379938.2_Silent_p.D1545D|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Silent_p.D1490D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			AGAAGAGCGACGATGACAAGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000349384.6	1	1	hg19	CCDS34336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	1	50	186	0	37	1	9.998876e-01	14	40	0	37	2		0	0	0	0	0	2	1	1	50	183	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIMS1	22999	broad.mit.edu	37	6	72889425	72889425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72889425G>T	ENST00000521978.1	+	5	619	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.E207*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1			102		all_epithelial(107;0.179)|all_hematologic(105;0.212)			GGTACCAAGAGAAAAGAAAGC	0.567000																								0							SO:0001587	stop_gained			ENST00000521978.1	0	1	hg19	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118274	0.97300	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.6795	19.7321	0.96186	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000264839:E207X	E	+	1	0	RIMS1	72946146	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.023000	0.70848	2.668000	0.90789	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	0	0	0	10	409	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	9.968074e-01	10	405	0	95	2								-9.142844	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.280000	0.140000	0.480000	0.280000	0.299937	0.280000	0	2.000000e-01	3.800000e-01
RIMS1	22999	broad.mit.edu	37	6	72960117	72960117	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72960117C>T	ENST00000521978.1	+	13	2326	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R776C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1			102		all_epithelial(107;0.179)|all_hematologic(105;0.212)			AGTAGATGGACGTCCTCGAAA	0.358000																								0							SO:0001583	missense			ENST00000521978.1	0	1	hg19	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001142|4.001142	0.74818|0.74818	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.77229|.	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;1.53|.	5.28|5.28	5.28|5.28	0.74379|0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.61763|0.61763	0.2373|0.2373	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.99;0.994;0.999;0.999;1.0;0.999;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	-15.9688|-15.9688	14.1452|14.1452	0.65347|0.65347	0.15:0.8499:0.0:0.0|0.15:0.8499:0.0:0.0	.|.	235;250;776;235;250;776;776|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	776;776;776;776;776;776;776;776;776;776;776;776;250;250;169;169;235;1|349	ENSP00000430101:R776C;ENSP00000275037:R776C;ENSP00000264839:R776C;ENSP00000429959:R776C;ENSP00000430408:R776C;ENSP00000430502:R776C;ENSP00000430932:R776C;ENSP00000428417:R776C;ENSP00000385649:R250C;ENSP00000428328:R250C;ENSP00000411235:R169C;ENSP00000389503:R169C;ENSP00000428367:R235C;ENSP00000359448:R1C|.	ENSP00000264839:R776C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73016838|73016838	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	2.896000|2.896000	0.48656|0.48656	2.611000|2.611000	0.88343|0.88343	0.585000|0.585000	0.79938|0.79938	CGT|ACG		TCGA-IB-7651-01A-11D-2154-08	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	1	0	0	15	95	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.999054e-01	15	94	0	20	2								-9.851880	1	1	120724	8	37	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.910000	1.000000	1.000000	0.994764	0.990000	1	9.900000e-01	1
RIMS1	22999	broad.mit.edu	37	6	73108697	73108697	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73108697T>C	ENST00000521978.1	+	33	4761	c.4761T>C	c.(4759-4761)tgT>tgC	p.C1587C	RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000520567.1_Silent_p.C1237C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000517960.1_Silent_p.C1370C|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000264839.7_Silent_p.C1436C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1			102		all_epithelial(107;0.179)|all_hematologic(105;0.212)			ATGGGGCCTGTATAGCCAAGA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000521978.1	1	1	hg19	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.660|6.660	0.490392|0.490392	0.12702|0.12702	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.37|5.37	2.75|2.75	0.32379|0.32379	.|.	.|.	.|.	.|.	.|.	T|T	0.43166|0.43166	0.1235|0.1235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35649|0.35649	-0.9780|-0.9780	4|4	.|.	.|.	.|.	-13.4425|-13.4425	8.1248|8.1248	0.30992|0.30992	0.0:0.2829:0.0:0.7171|0.0:0.2829:0.0:0.7171	.|.	.|.	.|.	.|.	A|H	505|933	.|.	.|.	V|Y	+|+	2|1	0|0	RIMS1|RIMS1	73165418|73165418	0.428000|0.428000	0.25522|0.25522	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	-0.266000|-0.266000	0.08631|0.08631	0.995000|0.995000	0.38917|0.38917	0.482000|0.482000	0.46254|0.46254	GTA|TAT		TCGA-IB-7651-01A-11D-2154-08	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	1	0	1	40	168	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	40	164	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNQ5	56479	broad.mit.edu	37	6	73787531	73787531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73787531C>T	ENST00000370398.1	+	5	948	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	p.S280L(1)		57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		Ezogabine(DB04953)	CTTATTTTTTCGTCTTTCCTT	0.338000													GBM(142;1375 1859 14391 23261 44706)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370398.1	1	1	hg19	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204449	0.79127	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.86	5.86	0.93980	Ion transport (1);	0.066132	0.64402	D	0.000006	D	0.97383	0.9144	L	0.58354	1.805	0.80722	D	1	P;P;D;D;P;P	0.61080	0.55;0.937;0.981;0.989;0.949;0.521	B;B;P;P;P;B	0.57101	0.167;0.358;0.813;0.778;0.687;0.054	D	0.97285	0.9920	10	0.62326	D	0.03	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	280;280;280;280;280;280	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	L	280	ENSP00000345055:S280L;ENSP00000347326:S280L;ENSP00000359425:S280L;ENSP00000359419:S280L;ENSP00000385501:S280L;ENSP00000347853:S280L;ENSP00000384453:S280L;ENSP00000409861:S280L	ENSP00000345055:S280L	S	+	2	0	KCNQ5	73844252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	TCG		TCGA-IB-7651-01A-11D-2154-08	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1	20	134	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999968e-01	20	133	0	31	2								-11.133810	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.940000	1.000000	1.000000	0.996542	0.990000	1	9.900000e-01	1
KCNQ5	56479	broad.mit.edu	37	6	73879480	73879480	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73879480C>T	ENST00000370398.1	+	11	1589	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L513F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5			57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		Ezogabine(DB04953)	TGACACAGCCCTTGGCACTGA	0.433000													GBM(142;1375 1859 14391 23261 44706)											0							SO:0001583	missense			ENST00000370398.1	1	1	hg19	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995844	0.74703	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.156361	0.44285	D	0.000465	D	0.99174	0.9714	L	0.52573	1.65	0.80722	D	1	D;P;P;D	0.58970	0.957;0.599;0.739;0.984	P;B;B;D	0.67103	0.822;0.27;0.382;0.949	D	0.99960	1.1712	10	0.09590	T	0.72	.	19.295	0.94118	0.0:1.0:0.0:0.0	.	504;513;485;494	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	F	513;513;494;494;504;495;485	ENSP00000345055:L513F;ENSP00000347326:L494F;ENSP00000359425:L494F;ENSP00000385501:L504F;ENSP00000347853:L495F;ENSP00000384453:L485F	ENSP00000345055:L513F	L	+	1	0	KCNQ5	73936201	0.998000	0.40836	0.969000	0.41365	0.965000	0.64279	4.120000	0.57897	2.726000	0.93360	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1	47	232	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1	47	227	0	66	2								-2.665692	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KCNQ5	56479	broad.mit.edu	37	6	73900337	73900337	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73900337C>T	ENST00000370398.1	+	12	1728	c.1619C>T	c.(1618-1620)aCa>aTa	p.T540I	KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.T559I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5			57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		Ezogabine(DB04953)	TTTAAGGAAACATTACGTCCA	0.303000													GBM(142;1375 1859 14391 23261 44706)											0							SO:0001583	missense			ENST00000370398.1	1	1	hg19	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359449	0.82353	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.02	5.02	0.67125	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.76574	2.34	0.39638	D	0.970273	D;D;P;P;D	0.89917	0.999;1.0;0.954;0.858;1.0	D;D;P;P;D	0.85130	0.931;0.991;0.771;0.661;0.997	D	0.97990	1.0354	10	0.87932	D	0	.	18.3416	0.90307	0.0:1.0:0.0:0.0	.	430;550;559;531;540	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	I	559;559;540;540;550;541;531;430	ENSP00000345055:T559I;ENSP00000347326:T540I;ENSP00000359425:T540I;ENSP00000385501:T550I;ENSP00000347853:T541I;ENSP00000384453:T531I;ENSP00000409861:T430I	ENSP00000345055:T559I	T	+	2	0	KCNQ5	73957058	1.000000	0.71417	0.960000	0.40013	0.742000	0.42306	7.814000	0.86154	2.301000	0.77427	0.643000	0.83706	ACA		TCGA-IB-7651-01A-11D-2154-08	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1	24	130	0	45	0	0	0	1	0	45	2		0	0	0	0	0	2	1	9.999998e-01	24	129	0	45	2								-14.359180	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999722	0.990000	1	9.900000e-01	1
KCNQ5	56479	broad.mit.edu	37	6	73904434	73904434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73904434C>T	ENST00000370398.1	+	14	2205	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A718V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5			57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		Ezogabine(DB04953)	GAGTTCAGTGCCCAGACTTTC	0.512000													GBM(142;1375 1859 14391 23261 44706)											0							SO:0001583	missense			ENST00000370398.1	1	1	hg19	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954657	0.34471	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99369	-5.57;-5.57;-5.57;-5.57;-5.58;-5.61;-5.78	5.32	5.32	0.75619	.	0.212896	0.39341	N	0.001382	D	0.96516	0.8863	L	0.40543	1.245	0.25032	N	0.991266	B;B;B;B;B	0.24368	0.102;0.004;0.046;0.076;0.046	B;B;B;B;B	0.27380	0.079;0.026;0.045;0.047;0.045	D	0.93106	0.6512	10	0.38643	T	0.18	-5.5489	14.5834	0.68308	0.0:0.8541:0.1459:0.0	.	589;709;718;690;699	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	718;718;699;699;709;700;690;589	ENSP00000345055:A718V;ENSP00000347326:A699V;ENSP00000359425:A699V;ENSP00000385501:A709V;ENSP00000347853:A700V;ENSP00000384453:A690V;ENSP00000409861:A589V	ENSP00000345055:A718V	A	+	2	0	KCNQ5	73961155	0.997000	0.39634	0.859000	0.33776	0.975000	0.68041	3.482000	0.53186	2.486000	0.83907	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1	116	568	0	148	0	2.929456e-02	0	2	0	148	2		0	0	0	0	0	2	1	1	111	555	0	148	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIOK1	83732	broad.mit.edu	37	6	7404697	7404697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7404697C>T	ENST00000379834.2	+	10	1408	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1			19	Ovarian(93;0.0418)				ATCCAAGGCTCGGGAGTTGTA	0.408000																								0							SO:0001583	missense			ENST00000379834.2	1	1	hg19	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683615	0.88639	.	.	ENSG00000124784	ENST00000379834	T	0.07444	3.19	5.3	5.3	0.74995	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.08638	-1.0712	10	0.66056	D	0.02	-13.397	13.3026	0.60334	0.158:0.842:0.0:0.0	.	301	Q9BRS2	RIOK1_HUMAN	W	301	ENSP00000369162:R301W	ENSP00000369162:R301W	R	+	1	2	RIOK1	7349696	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.878000	0.48515	2.627000	0.88993	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	1	0	1	129	631	0	181	1	9.999996e-01	26	75	0	181	2		0	0	0	0	0	2	1	1	126	620	0	180	2								-3.025808	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTO1	25821	broad.mit.edu	37	6	74189713	74189713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74189713G>T	ENST00000370300.4	+	6	1083	c.993G>T	c.(991-993)caG>caT	p.Q331H	MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|AL603910.1_ENST00000580608.1_RNA|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H|MTO1_ENST00000498286.1_Missense_Mutation_p.Q331H	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1			27					GTCTACATCAGGTTTGGTTGG	0.383000											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001583	missense			ENST00000370300.4	1	1	hg19	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393532	0.62066	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.14	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.62723	1.935	0.49687	D	0.999819	P;P;P	0.52170	0.951;0.912;0.929	P;P;P	0.56960	0.712;0.712;0.81	T	0.76857	-0.2804	10	0.87932	D	0	-16.8034	9.0065	0.36115	0.2501:0.0:0.7499:0.0	.	331;331;331	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	H	331;331;234;257;331	ENSP00000402038:Q331H;ENSP00000419561:Q331H;ENSP00000359328:Q257H;ENSP00000359323:Q331H	ENSP00000350506:Q234H	Q	+	3	2	MTO1	74246434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.201000	0.51059	0.672000	0.31204	0.591000	0.81541	CAG		TCGA-IB-7651-01A-11D-2154-08	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	1	0	1	76	318	0	59	1	9.748921e-01	5	22	0	59	2		0	0	0	0	0	2	1	1	74	313	0	59	2								-2.925000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTO1	25821	broad.mit.edu	37	6	74201963	74201963	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74201963C>T	ENST00000370300.4	+	11	1809	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000415954.2_Silent_p.L588L|RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000498286.1_Silent_p.L548L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1			27					GCAGAGCTCTCGATGTTCTGA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000370300.4	1	1	hg19	CCDS4979.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	1	0	1	44	218	0	29	1	9.992836e-01	13	44	0	29	2		0	0	0	0	0	2	1	1	43	213	0	28	2								-2.889421	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
EEF1A1	1915	broad.mit.edu	37	6	74228449	74228449	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74228449C>T	ENST00000316292.9	-	4	1735	c.744G>A	c.(742-744)ctG>ctA	p.L248L	EEF1A1_ENST00000331523.2_Silent_p.L248L|EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1			18					CCTGGAGAGGCAGGCGCAAGG	0.483000											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001819	synonymous_variant			ENST00000316292.9	1	1	hg19	CCDS4980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	1	0	1	73	306	0	85	1	1	18	1514	0	85	2		0	0	0	0	0	2	1	1	70	287	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC17A5	26503	broad.mit.edu	37	6	74325115	74325115	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74325115G>T	ENST00000355773.5	-	8	1302	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5			21					AGCTTGACCAGACAGGATCAT	0.358000																								0							SO:0001583	missense			ENST00000355773.5	1	1	hg19	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627768	0.46944	.	.	ENSG00000119899	ENST00000355773	T	0.59364	0.27	4.83	3.94	0.45596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372016	0.29767	N	0.011245	T	0.57799	0.2078	L	0.51422	1.61	0.80722	D	1	P;P	0.51791	0.843;0.948	P;P	0.60345	0.873;0.815	T	0.61382	-0.7074	10	0.51188	T	0.08	.	14.6465	0.68764	0.0:0.1519:0.8481:0.0	.	407;345	E1P537;Q9NRA2	.;S17A5_HUMAN	Y	345	ENSP00000348019:S345Y	ENSP00000348019:S345Y	S	-	2	0	SLC17A5	74381836	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.192000	0.58378	0.980000	0.38523	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1	1	0	1	50	248	0	58	1	1	66	145	0	58	2		0	0	0	0	0	2	1	1	47	245	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD109	135228	broad.mit.edu	37	6	74407148	74407148	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74407148G>T	ENST00000287097.5	+	2	212	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	CD109_ENST00000437994.2_Missense_Mutation_p.G34W|RP11-553A21.3_ENST00000428865.2_RNA|CD109_ENST00000422508.2_Missense_Mutation_p.G34W			Q6YHK3	CD109_HUMAN	CD109 molecule			63					GACAGCCCCAGGGATCATCAG	0.507000																								0							SO:0001583	missense			ENST00000287097.5	1	1	hg19	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099419	0.37048	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23552	1.9;2.05;1.9	5.31	3.39	0.38822	.	0.166019	0.38492	N	0.001678	T	0.13927	0.0337	N	0.14661	0.345	0.23848	N	0.996675	D;B;B;B	0.59357	0.985;0.133;0.023;0.012	P;B;B;B	0.61592	0.891;0.025;0.017;0.01	T	0.04413	-1.0953	10	0.45353	T	0.12	.	8.848	0.35181	0.1943:0.0:0.8057:0.0	.	34;34;34;34	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	W	34	ENSP00000388062:G34W;ENSP00000404475:G34W;ENSP00000287097:G34W	ENSP00000287097:G34W	G	+	1	0	CD109	74463869	0.998000	0.40836	0.987000	0.45799	0.829000	0.46940	1.048000	0.30379	1.492000	0.48499	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	1	0	1	71	382	0	97	1	5.849869e-01	4	8	0	97	2		0	0	0	0	0	2	1	1	70	377	0	97	2								-2.603085	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD109	135228	broad.mit.edu	37	6	74497138	74497138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74497138C>T	ENST00000287097.5	+	21	2631	c.2519C>T	c.(2518-2520)aCt>aTt	p.T840I	CD109_ENST00000422508.2_Missense_Mutation_p.T763I|CD109_ENST00000437994.2_Missense_Mutation_p.T840I			Q6YHK3	CD109_HUMAN	CD109 molecule			63					CTTTCACCCACTGCTTCTGAT	0.423000																								0							SO:0001583	missense			ENST00000287097.5	1	1	hg19	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	4.359	0.066072	0.08388	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.21734	1.99;2.2;1.99	5.45	-2.97	0.05530	.	1.575850	0.04485	U	0.378552	T	0.03520	0.0101	L	0.28014	0.82	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.19391	0.004;0.025;0.002	T	0.38001	-0.9681	10	0.21014	T	0.42	.	2.6389	0.04965	0.0932:0.2575:0.2987:0.3506	.	763;840;840	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	I	840;763;840	ENSP00000388062:T840I;ENSP00000404475:T763I;ENSP00000287097:T840I	ENSP00000287097:T840I	T	+	2	0	CD109	74553859	0.001000	0.12720	0.089000	0.20774	0.724000	0.41520	-0.157000	0.10085	-0.433000	0.07286	0.650000	0.86243	ACT		TCGA-IB-7651-01A-11D-2154-08	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	1	0	1	64	355	0	91	1	9.984862e-01	13	43	0	91	2		0	0	0	0	0	2	1	1	65	349	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSP	1832	broad.mit.edu	37	6	7563014	7563014	+	Splice_Site	SNP	G	G	A	rs111295218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7563014G>A	ENST00000379802.3	+	5	1067		c.e5+1		DSP_ENST00000418664.2_Splice_Site	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			AGCCGACCTGGTACTTGTCTG	0.468000																								0							SO:0001630	splice_region_variant			ENST00000379802.3	1	1	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644213	0.87859	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSP	7508013	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.283000	0.95860	2.713000	0.92767	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	71	313	0	71	1	9.994079e-01	49	2	0	71	2		0	0	0	0	0	2	1	1	69	306	0	70	2								-20.000000	1	1	121412	1	30	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSP	1832	broad.mit.edu	37	6	7565651	7565651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7565651G>A	ENST00000379802.3	+	7	1178	c.837G>A	c.(835-837)acG>acA	p.T279T	DSP_ENST00000418664.2_Silent_p.T279T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			TTCAGGCCACGTCCAGGGAGA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000379802.3	1	1	hg19	CCDS4501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	35	357	0	74	1	9.999981e-01	35	172	0	74	2		0	0	0	0	0	2	1	1	34	350	0	74	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.730000	1.000000	1.000000	0.954666	0.990000	1	8.700000e-01	1
DSP	1832	broad.mit.edu	37	6	7578046	7578046	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7578046G>T	ENST00000379802.3	+	21	3253	c.2912G>T	c.(2911-2913)gGa>gTa	p.G971V	DSP_ENST00000418664.2_Missense_Mutation_p.G971V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			TACACCTCAGGACTGGAAACT	0.418000																								0							SO:0001583	missense			ENST00000379802.3	1	1	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008277	0.75046	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.78595	-1.19;2.07	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000016	T	0.82038	0.4950	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76318	-0.3003	10	0.14656	T	0.56	.	19.5192	0.95179	0.0:0.0:1.0:0.0	.	1018;971	Q4LE79;P15924	.;DESP_HUMAN	V	971;971;776	ENSP00000369129:G971V;ENSP00000396591:G971V	ENSP00000369129:G971V	G	+	2	0	DSP	7523045	1.000000	0.71417	0.991000	0.47740	0.776000	0.43924	9.476000	0.97823	2.611000	0.88343	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	44	515	0	139	1	9.999994e-01	43	204	0	139	2		0	0	0	0	0	2	1	1	42	502	0	139	2								-11.048880	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.900000	0.670000	1.000000	1.000000	0.897360	0.900000	1	7.800000e-01	1
DSP	1832	broad.mit.edu	37	6	7579637	7579637	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7579637T>C	ENST00000379802.3	+	23	3555	c.3214T>C	c.(3214-3216)Ttc>Ctc	p.F1072L	DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			GTGTTCCCAGTTCAAAGCGAA	0.498000																								0							SO:0001583	missense			ENST00000379802.3	1	1	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854328	0.32791	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.71222	-0.55;-0.55	5.67	5.67	0.87782	.	0.088267	0.49916	D	0.000125	T	0.18215	0.0437	N	0.02539	-0.55	0.33600	D	0.602217	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09552	-1.0669	10	0.02654	T	1	.	8.5066	0.33190	0.0:0.1149:0.0:0.8851	.	1119;1072	Q4LE79;P15924	.;DESP_HUMAN	L	1072;1072;877	ENSP00000369129:F1072L;ENSP00000396591:F1072L	ENSP00000369129:F1072L	F	+	1	0	DSP	7524636	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.058000	0.57463	2.159000	0.67721	0.454000	0.30748	TTC		TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	21	353	0	89	1	9.999785e-01	36	263	0	89	2		0	0	0	0	0	2	1	9.999971e-01	21	344	0	88	2								-19.999600	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.650000	0.410000	0.940000	0.640000	0.667186	0.650000	0	5.200000e-01	8.000000e-01
DSP	1832	broad.mit.edu	37	6	7580632	7580632	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7580632G>A	ENST00000379802.3	+	23	4550	c.4209G>A	c.(4207-4209)agG>agA	p.R1403R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			GAGAAAACAGGAGCTTATCTG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000379802.3	1	1	hg19	CCDS4501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	74	292	0	114	1	1	82	126	0	114	2		0	0	0	0	0	2	1	1	73	286	0	113	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSP	1832	broad.mit.edu	37	6	7582959	7582959	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7582959C>T	ENST00000379802.3	+	24	5805	c.5464C>T	c.(5464-5466)Ctg>Ttg	p.L1822L	DSP_ENST00000418664.2_Silent_p.L1223L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			AATCAAAGTCCTGGAGCAAGA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000379802.3	1	1	hg19	CCDS4501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	113	522	0	161	1	1	137	313	0	161	2		0	0	0	0	0	2	1	1	108	512	0	159	2								-3.114710	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSP	1832	broad.mit.edu	37	6	7583025	7583025	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7583025G>A	ENST00000379802.3	+	24	5871	c.5530G>A	c.(5530-5532)Gag>Aag	p.E1844K	DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			ATCAACTCTAGAGGCAGAAAC	0.498000																								0							SO:0001583	missense			ENST00000379802.3	1	1	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765989	0.69878	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.66815	-0.23;-0.23	5.2	5.2	0.72013	.	0.103621	0.41823	D	0.000808	T	0.58538	0.2129	N	0.16903	0.455	0.31119	N	0.709018	D;B	0.76494	0.999;0.247	P;B	0.60541	0.876;0.091	T	0.60772	-0.7197	10	0.41790	T	0.15	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	1292;1844	Q4LE79;P15924	.;DESP_HUMAN	K	1844;1245	ENSP00000369129:E1844K;ENSP00000396591:E1245K	ENSP00000369129:E1844K	E	+	1	0	DSP	7528024	1.000000	0.71417	0.145000	0.22337	0.902000	0.53008	9.860000	0.99555	2.410000	0.81850	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	104	501	0	144	1	1	179	323	0	144	2		0	0	0	0	0	2	1	1	101	486	0	142	2								-3.337890	1	0	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL12A1	1303	broad.mit.edu	37	6	75839891	75839891	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75839891C>T	ENST00000322507.8	-	37	6435	c.6126G>A	c.(6124-6126)tcG>tcA	p.S2042S	COL12A1_ENST00000416123.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S|COL12A1_ENST00000483888.2_Silent_p.S2042S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1			169					CCCAGGCTACCGAGAGGCTAT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000322507.8	1	1	hg19	CCDS43482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	1	57	276	0	79	0	1	0	382	0	79	2		0	0	0	0	0	2	1	1	57	273	0	78	2								-2.364545	0	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL12A1	1303	broad.mit.edu	37	6	75840677	75840677	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75840677C>T	ENST00000322507.8	-	36	6267	c.5958G>A	c.(5956-5958)acG>acA	p.T1986T	COL12A1_ENST00000416123.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T|COL12A1_ENST00000483888.2_Silent_p.T1986T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1			169					GCACCATGCGCGTGTTTCCTG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000322507.8	1	1	hg19	CCDS43482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	1	68	329	0	89	0	1	0	504	0	89	2		0	0	0	0	0	2	1	1	64	323	0	88	2								-20.000000	1	0	120986	1	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL12A1	1303	broad.mit.edu	37	6	75844520	75844520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844520C>A	ENST00000322507.8	-	32	5755	c.5446G>T	c.(5446-5448)Gac>Tac	p.D1816Y	COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1			169					TAAGGAGTGTCTGGCTTCAGT	0.498000																								0							SO:0001583	missense			ENST00000322507.8	1	1	hg19	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.933242|3.933242	0.73442|0.73442	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.87|5.87	5.0|5.0	0.66597|0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.61862|0.61862	0.2381|0.2381	M|M	0.63208|0.63208	1.945|1.945	0.46823|0.46823	D|D	0.999218|0.999218	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.983;0.994|.	T|T	0.63216|0.63216	-0.6687|-0.6687	10|5	0.72032|.	D|.	0.01|.	.|.	15.0639|15.0639	0.71977|0.71977	0.0:0.9321:0.0:0.0679|0.0:0.9321:0.0:0.0679	.|.	652;1816|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	Y|I	1816;1816;652;1816;1816|550	ENSP00000325146:D1816Y;ENSP00000305147:D652Y;ENSP00000412864:D1816Y;ENSP00000421216:D1816Y|.	ENSP00000325146:D1816Y|.	D|R	-|-	1|2	0|0	COL12A1|COL12A1	75901240|75901240	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.764000|0.764000	0.43329|0.43329	5.594000|5.594000	0.67557|0.67557	1.493000|1.493000	0.48517|0.48517	0.650000|0.650000	0.86243|0.86243	GAC|AGA		TCGA-IB-7651-01A-11D-2154-08	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	1	68	275	0	76	1	1	3	476	0	76	2		0	0	0	0	0	2	1	1	68	268	0	75	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL12A1	1303	broad.mit.edu	37	6	75844551	75844551	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844551C>A	ENST00000322507.8	-	32	5724	c.5415G>T	c.(5413-5415)caG>caT	p.Q1805H	COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1			169					CCACACTGTTCTGCCGTCCTC	0.478000																								0							SO:0001583	missense			ENST00000322507.8	1	1	hg19	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.251718|3.251718	0.59212|0.59212	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.8|5.8	3.06|3.06	0.35304|0.35304	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.48714	.|0.1515	L|L	0.50993|0.50993	1.605|1.605	0.34862|0.34862	D|D	0.742689|0.742689	.|D;D	.|0.69078	.|0.996;0.997	.|P;D	.|0.64410	.|0.878;0.925	.|T	.|0.49597	.|-0.8923	.|10	.|0.36615	.|T	.|0.2	.|.	10.5114|10.5114	0.44864|0.44864	0.0:0.7372:0.0:0.2628|0.0:0.7372:0.0:0.2628	.|.	.|641;1805	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	X|H	540|1805;1805;641;1805;1805	.|ENSP00000325146:Q1805H;ENSP00000305147:Q641H;ENSP00000412864:Q1805H;ENSP00000421216:Q1805H	.|ENSP00000325146:Q1805H	E|Q	-|-	1|3	0|2	COL12A1|COL12A1	75901271|75901271	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	0.621000|0.621000	0.24418|0.24418	0.805000|0.805000	0.34159|0.34159	0.650000|0.650000	0.86243|0.86243	GAA|CAG		TCGA-IB-7651-01A-11D-2154-08	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	1	73	279	0	67	1	1	3	542	0	67	2		0	0	0	0	0	2	1	1	72	271	0	66	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSP	1832	broad.mit.edu	37	6	7584800	7584800	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7584800G>T	ENST00000379802.3	+	24	7646	c.7305G>T	c.(7303-7305)aaG>aaT	p.K2435N	DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			GATGCATTAAGGATGAGGAAA	0.413000																								0							SO:0001583	missense			ENST00000379802.3	1	1	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231396	0.22626	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68331	-0.32;-0.32	5.7	2.95	0.34219	.	0.000000	0.64402	D	0.000003	T	0.38957	0.1060	L	0.43152	1.355	0.23492	N	0.997568	D;P	0.60160	0.987;0.922	P;B	0.45712	0.491;0.33	T	0.33727	-0.9857	10	0.19590	T	0.45	.	9.8562	0.41088	0.3409:0.0:0.6591:0.0	.	1883;2435	Q4LE79;P15924	.;DESP_HUMAN	N	2435;1836	ENSP00000369129:K2435N;ENSP00000396591:K1836N	ENSP00000369129:K2435N	K	+	3	2	DSP	7529799	0.971000	0.33674	0.999000	0.59377	0.992000	0.81027	0.281000	0.18810	0.337000	0.23665	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	105	434	0	93	1	1	162	227	0	93	2		0	0	0	0	0	2	1	1	104	427	0	91	2								-3.296056	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSP	1832	broad.mit.edu	37	6	7585624	7585624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7585624C>T	ENST00000379802.3	+	24	8470	c.8129C>T	c.(8128-8130)gCa>gTa	p.A2710V	DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin			101	Ovarian(93;0.0584)	all_hematologic(90;0.236)			ATGTCAGCAGCAGAGGCAGTG	0.552000																								0							SO:0001583	missense			ENST00000379802.3	1	1	hg19	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179999	0.57800	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68479	-0.33;-0.33	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000008	T	0.73513	0.3596	M	0.62723	1.935	0.34917	D	0.748094	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.871	T	0.66893	-0.5808	10	0.16896	T	0.51	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	2158;2710	Q4LE79;P15924	.;DESP_HUMAN	V	2710;2111	ENSP00000369129:A2710V;ENSP00000396591:A2111V	ENSP00000369129:A2710V	A	+	2	0	DSP	7530623	1.000000	0.71417	0.908000	0.35775	0.422000	0.31414	6.055000	0.71103	2.818000	0.97014	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	1	0	1	141	757	0	232	1	1	272	436	0	232	2		0	0	0	0	0	2	1	1	139	734	0	229	2								-20.000000	1	1	0	0		1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL12A1	1303	broad.mit.edu	37	6	75898987	75898987	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75898987C>A	ENST00000322507.8	-	7	1078	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1			169					GGAATTTCCACTTCATCCTGG	0.373000																								0							SO:0001583	missense			ENST00000322507.8	1	1	hg19	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839537	0.91117	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.77750	-1.12;-1.12;-1.12	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000007	D	0.85575	0.5728	M	0.62266	1.93	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	D	0.85774	0.1357	10	0.72032	D	0.01	.	20.0027	0.97425	0.0:1.0:0.0:0.0	.	257	Q99715	COCA1_HUMAN	L	257	ENSP00000325146:V257L;ENSP00000412864:V257L;ENSP00000421216:V257L	ENSP00000325146:V257L	V	-	1	0	COL12A1	75955707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	1	0	1	46	195	0	59	1	1	2	227	0	59	2		0	0	0	0	0	2	1	1	46	195	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FILIP1	27145	broad.mit.edu	37	6	76022516	76022516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022516G>A	ENST00000237172.7	-	5	3362	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M|FILIP1_ENST00000393004.2_Missense_Mutation_p.T1011M|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1			80					TGTAGACACCGTCATTATCTG	0.493000																								0							SO:0001583	missense			ENST00000237172.7	1	1	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887244	0.91814	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21734	1.99;2.0;2.01	6.03	6.03	0.97812	.	0.045131	0.85682	D	0.000000	T	0.34716	0.0907	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.926;0.95;0.977	T	0.01159	-1.1433	10	0.51188	T	0.08	-22.8688	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1011;1011;1011	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	1011;1011;912	ENSP00000376728:T1011M;ENSP00000237172:T1011M;ENSP00000359037:T912M	ENSP00000237172:T1011M	T	-	2	0	FILIP1	76079236	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.231000	0.95317	2.861000	0.98227	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	0	0	1	77	654	0	119	0	2.477288e-01	0	9	0	119	2		0	0	0	0	0	2	1	1	78	644	0	118	2								-19.999840	1	1	121412	4	38	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.970000	1.000000	1.000000	0.998423	0.990000	1	9.900000e-01	1
FILIP1	27145	broad.mit.edu	37	6	76022961	76022961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022961G>A	ENST00000237172.7	-	5	2917	c.2587C>T	c.(2587-2589)Ctc>Ttc	p.L863F	FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F|FILIP1_ENST00000393004.2_Missense_Mutation_p.L863F|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1			80					CTCATAGTGAGCTCATTTGCT	0.473000																								0							SO:0001583	missense			ENST00000237172.7	1	1	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	4.862	0.160255	0.09287	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20598	2.06;2.06;2.07	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	L	0.50333	1.59	0.47621	D	0.999475	D;B;B	0.56035	0.974;0.058;0.095	P;B;B	0.53450	0.726;0.036;0.078	T	0.01235	-1.1410	10	0.41790	T	0.15	-11.3231	12.5159	0.56032	0.0:0.1275:0.7399:0.1326	.	863;863;863	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	863;863;764	ENSP00000376728:L863F;ENSP00000237172:L863F;ENSP00000359037:L764F	ENSP00000237172:L863F	L	-	1	0	FILIP1	76079681	0.997000	0.39634	0.991000	0.47740	0.995000	0.86356	2.561000	0.45905	1.459000	0.47892	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	1	119	558	0	116	0	4.252354e-01	1	7	0	116	2		0	0	0	0	0	2	1	1	117	545	0	116	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FILIP1	27145	broad.mit.edu	37	6	76023041	76023041	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023041C>T	ENST00000237172.7	-	5	2837	c.2507G>A	c.(2506-2508)aGt>aAt	p.S836N	FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N|FILIP1_ENST00000393004.2_Missense_Mutation_p.S836N|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1			80					CCGAAGATTACTCATAATATG	0.458000																								0							SO:0001583	missense			ENST00000237172.7	1	1	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569228	0.28003	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19250	2.17;2.17;2.16	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.27053	0.805	0.52099	D	0.999946	B;B;B	0.27656	0.103;0.115;0.184	B;B;B	0.31101	0.031;0.058;0.124	T	0.06844	-1.0804	10	0.52906	T	0.07	-12.8369	14.5701	0.68205	0.0:0.9301:0.0:0.0699	.	836;836;836	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	N	836;836;737	ENSP00000376728:S836N;ENSP00000237172:S836N;ENSP00000359037:S737N	ENSP00000237172:S836N	S	-	2	0	FILIP1	76079761	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	3.921000	0.56454	1.410000	0.46936	-0.251000	0.11542	AGT		TCGA-IB-7651-01A-11D-2154-08	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	1	191	884	0	198	0	4.309619e-01	0	8	0	198	2		0	0	0	0	0	2	1	1	187	861	0	197	2								-20.000000	1	0	121412	1	39	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FILIP1	27145	broad.mit.edu	37	6	76023250	76023250	+	Silent	SNP	C	C	T	rs147346630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023250C>T	ENST00000237172.7	-	5	2628	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G	FILIP1_ENST00000370020.1_Silent_p.G667G|FILIP1_ENST00000393004.2_Silent_p.G766G|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1			80					GAACCTCCTGCCCCATGTTTT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000237172.7	1	1	hg19	CCDS4984.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	1	94	553	0	112	0	1.587342e-01	0	5	0	112	2		0	0	0	0	0	2	1	1	94	547	0	111	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FILIP1	27145	broad.mit.edu	37	6	76024448	76024448	+	Missense_Mutation	SNP	G	G	A	rs146943364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76024448G>A	ENST00000237172.7	-	5	1430	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V	FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V|FILIP1_ENST00000393004.2_Missense_Mutation_p.A367V|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1			80					TTCTCCTTTGGCAATTTTATC	0.413000																								0							SO:0001583	missense			ENST00000237172.7	1	1	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580619	0.28180	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.18338	2.22;2.22;2.22	5.65	5.65	0.86999	.	0.165064	0.56097	D	0.000031	T	0.07728	0.0194	N	0.25647	0.755	0.34645	D	0.721069	P;B;P	0.38922	0.651;0.415;0.551	B;B;B	0.36922	0.15;0.119;0.236	T	0.21042	-1.0257	10	0.25751	T	0.34	-18.1589	20.0965	0.97849	0.0:0.0:1.0:0.0	.	367;367;367	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	367;367;268	ENSP00000376728:A367V;ENSP00000237172:A367V;ENSP00000359037:A268V	ENSP00000237172:A367V	A	-	2	0	FILIP1	76081168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.824000	0.97209	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	1	146	715	0	131	0	2.037107e-01	0	5	0	131	2		0	0	0	0	0	2	1	1	141	704	0	131	2								-20.000000	1	1	121410	1	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNRNP48	154007	broad.mit.edu	37	6	7606277	7606277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7606277C>T	ENST00000342415.5	+	8	879	c.820C>T	c.(820-822)Cga>Tga	p.R274*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)			10					TGAAGAAAGGCGATCAGCTTC	0.413000																								0							SO:0001587	stop_gained			ENST00000342415.5	0	1	hg19	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389206	0.95988	.	.	ENSG00000168566	ENST00000342415	.	.	.	5.75	2.96	0.34315	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.92	4.1917	0.10424	0.286:0.4992:0.1385:0.0763	.	.	.	.	X	274	.	ENSP00000339834:R274X	R	+	1	2	SNRNP48	7551276	0.983000	0.35010	0.295000	0.24960	0.948000	0.59901	0.413000	0.21148	0.337000	0.23665	-0.152000	0.13540	CGA		TCGA-IB-7651-01A-11D-2154-08	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	1	0	1	67	388	0	88	1	9.878568e-01	3	39	0	88	2		0	0	0	0	0	2	1	1	67	383	0	85	2								-20.000000	1	1	121410	1	28	1	0	0	0	1.967613	0	0.170000	2.060000	1.571037e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FILIP1	27145	broad.mit.edu	37	6	76072528	76072528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76072528G>A	ENST00000237172.7	-	3	712	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	RP11-415D17.3_ENST00000609544.1_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.H128Y|RP11-415D17.3_ENST00000588761.1_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	p.H128N(1)		80					GCATCTCGGTGCAGGACCCGC	0.493000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000237172.7	1	1	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049184	0.93740	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.43688	0.94;0.94;0.94	5.99	5.99	0.97316	Cortactin-binding protein-2, N-terminal (1);	0.051098	0.85682	D	0.000000	T	0.36276	0.0961	N	0.22421	0.69	0.80722	D	1	D;P;P	0.59767	0.986;0.941;0.927	P;P;P	0.53006	0.715;0.592;0.561	T	0.14531	-1.0469	10	0.54805	T	0.06	-19.3947	20.4777	0.99188	0.0:0.0:1.0:0.0	.	128;128;128	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	128;128;29	ENSP00000376728:H128Y;ENSP00000237172:H128Y;ENSP00000359037:H29Y	ENSP00000237172:H128Y	H	-	1	0	FILIP1	76129248	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.993000	0.88291	2.840000	0.97914	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	1	0	0	82	443	0	105	0	1.777350e-01	0	5	0	105	2		0	0	0	0	0	2	1	1	82	436	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP6	26054	broad.mit.edu	37	6	76412670	76412670	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76412670T>G	ENST00000447266.2	+	19	3076	c.2598T>G	c.(2596-2598)caT>caG	p.H866Q	SENP6_ENST00000370014.3_Missense_Mutation_p.H866Q|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q|SENP6_ENST00000541192.1_Intron	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6			27		all_hematologic(105;0.189)			AAATAAATCATACTGCGAGTG	0.358000																								0							SO:0001583	missense			ENST00000447266.2	1	1	hg19	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026728	0.07589	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.10763	2.84;2.84;2.84	5.85	0.5	0.16919	.	0.313789	0.35179	N	0.003387	T	0.01189	0.0039	N	0.11560	0.145	0.31730	N	0.637123	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.47420	-0.9119	10	0.27082	T	0.32	-7.1186	1.7865	0.03043	0.1332:0.1508:0.3504:0.3656	.	859;866	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Q	859;866;866	ENSP00000359027:H859Q;ENSP00000359031:H866Q;ENSP00000402527:H866Q	ENSP00000359027:H859Q	H	+	3	2	SENP6	76469390	0.998000	0.40836	0.976000	0.42696	0.868000	0.49771	0.292000	0.19011	0.142000	0.18901	-0.361000	0.07541	CAT		TCGA-IB-7651-01A-11D-2154-08	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	1	0	1	139	574	0	158	1	1	18	103	0	158	2		0	0	0	0	0	2	1	1	136	564	0	157	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SENP6	26054	broad.mit.edu	37	6	76423282	76423282	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76423282T>C	ENST00000447266.2	+	22	3441	c.2963T>C	c.(2962-2964)gTc>gCc	p.V988A	SENP6_ENST00000370014.3_Missense_Mutation_p.V988A|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A|SENP6_ENST00000541192.1_3'UTR	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6			27		all_hematologic(105;0.189)			TCAAATGTTGTCAAAATTTTA	0.328000																								0							SO:0001583	missense			ENST00000447266.2	1	1	hg19	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089070	0.76756	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.32023	1.47;1.47;1.47	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000006	T	0.37320	0.0999	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.30119	-0.9989	10	0.66056	D	0.02	-9.8692	14.0535	0.64751	0.0:0.0:0.0:1.0	.	981;988	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	A	981;988;988	ENSP00000359027:V981A;ENSP00000359031:V988A;ENSP00000402527:V988A	ENSP00000359027:V981A	V	+	2	0	SENP6	76480002	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.731000	0.62022	1.785000	0.52413	0.377000	0.23210	GTC		TCGA-IB-7651-01A-11D-2154-08	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	1	0	1	71	359	0	71	1	1	26	129	0	71	2		0	0	0	0	0	2	1	1	70	354	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO6	4646	broad.mit.edu	37	6	76623953	76623953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76623953C>T	ENST00000369977.3	+	34	3752	c.3613C>T	c.(3613-3615)Caa>Taa	p.Q1205*	MYO6_ENST00000369985.4_Nonsense_Mutation_p.Q1182*|MYO6_ENST00000369981.3_Nonsense_Mutation_p.Q1206*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI			58		all_hematologic(105;0.189)			GATTGCCCGGCAAATGGAACT	0.463000																								0							SO:0001587	stop_gained			ENST00000369977.3	0	1	hg19	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	43	10.432314	0.99404	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8031	0.96516	0.0:1.0:0.0:0.0	.	.	.	.	X	1215;1206;1182;1205;1173	.	ENSP00000358992:Q1173X	Q	+	1	0	MYO6	76680673	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.462000	0.80851	2.672000	0.90937	0.655000	0.94253	CAA		TCGA-IB-7651-01A-11D-2154-08	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	1	0	0	136	684	0	168	1	9.999998e-01	28	79	0	168	2		0	0	0	0	0	2	1	1	134	664	0	164	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IMPG1	3617	broad.mit.edu	37	6	76660430	76660430	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660430T>C	ENST00000369950.3	-	13	1862	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1			63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)			AGTGGTGATATACTGTAAAGC	0.502000													Pancreas(37;839 1141 2599 26037)											0							SO:0001583	missense			ENST00000369950.3	1	1	hg19	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678671	0.68042	.	.	ENSG00000112706	ENST00000369950	T	0.22134	1.97	5.67	3.19	0.36642	.	0.225394	0.31415	N	0.007695	T	0.29061	0.0722	M	0.74258	2.255	0.46061	D	0.998847	D	0.71674	0.998	P	0.62740	0.906	T	0.06427	-1.0827	10	0.59425	D	0.04	.	11.2619	0.49089	0.2428:0.0:0.0:0.7572	.	558	Q17R60	IMPG1_HUMAN	C	558	ENSP00000358966:Y558C	ENSP00000358966:Y558C	Y	-	2	0	IMPG1	76717150	1.000000	0.71417	0.003000	0.11579	0.467000	0.32768	4.689000	0.61723	0.374000	0.24650	0.528000	0.53228	TAT		TCGA-IB-7651-01A-11D-2154-08	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	1	0	1	49	235	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	49	226	0	74	2								-20.000000	1	1	121400	2	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IMPG1	3617	broad.mit.edu	37	6	76660589	76660589	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660589T>C	ENST00000369950.3	-	13	1703	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1			63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)			TGATCGGCTGTCATCTGAAGA	0.512000													Pancreas(37;839 1141 2599 26037)											0							SO:0001583	missense			ENST00000369950.3	1	1	hg19	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233902	0.22626	.	.	ENSG00000112706	ENST00000369950	T	0.20463	2.07	5.03	2.57	0.30868	.	0.426346	0.21631	N	0.071490	T	0.05318	0.0141	L	0.38175	1.15	0.18873	N	0.999987	B	0.12630	0.006	B	0.08055	0.003	T	0.30679	-0.9970	10	0.41790	T	0.15	.	6.2104	0.20626	0.0:0.1538:0.1359:0.7103	.	505	Q17R60	IMPG1_HUMAN	G	505	ENSP00000358966:D505G	ENSP00000358966:D505G	D	-	2	0	IMPG1	76717309	0.000000	0.05858	0.062000	0.19696	0.190000	0.23558	-0.053000	0.11846	0.852000	0.35287	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	1	0	0	51	210	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	48	205	0	44	2								-2.164058	0	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IMPG1	3617	broad.mit.edu	37	6	76744474	76744474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76744474C>T	ENST00000369950.3	-	3	521	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	IMPG1_ENST00000369963.3_Missense_Mutation_p.R33Q	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1	p.R111Q(1)		63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)			CAGAAAGATCCGATATGCTTC	0.488000													Pancreas(37;839 1141 2599 26037)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369950.3	1	1	hg19	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711068	0.96821	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.81163	-1.34;-1.46	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	D	0.89382	0.6699	M	0.80982	2.52	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	D	0.88377	0.2999	9	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	111	Q17R60	IMPG1_HUMAN	Q	111;33	ENSP00000358966:R111Q;ENSP00000358980:R33Q	.	R	-	2	0	IMPG1	76801194	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.076000	0.50081	2.720000	0.93068	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	1	0	1	57	270	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	55	263	0	62	2								-2.867844	1	1	121412	1	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRAK1BP1	134728	broad.mit.edu	37	6	79595126	79595126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79595126G>A	ENST00000369940.2	+	2	452	c.347G>A	c.(346-348)aGg>aAg	p.R116K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1			12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)			AAGGATTTTAGGAGAGTGGAA	0.318000																								0							SO:0001583	missense			ENST00000369940.2	1	1	hg19	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	g	8.962	0.970850	0.18659	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.28	3.34	0.38264	.	0.370642	0.29015	N	0.013412	T	0.06234	0.0161	N	0.12182	0.205	0.25863	N	0.983809	B	0.02656	0.0	B	0.06405	0.002	T	0.33240	-0.9876	8	.	.	.	.	6.8345	0.23929	0.0998:0.178:0.7222:0.0	.	116	Q5VVH5	IKBP1_HUMAN	K	116	.	.	R	+	2	0	IRAK1BP1	79651845	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.289000	0.51747	1.188000	0.43014	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	1	0	1	63	345	0	103	1	8.550032e-01	7	14	0	103	2		0	0	0	0	0	2	1	1	67	336	0	103	2								-3.226324	1	1	121402	1	27	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHIP	55023	broad.mit.edu	37	6	79650542	79650542	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79650542A>G	ENST00000275034.4	-	40	5501	c.5334T>C	c.(5332-5334)taT>taC	p.Y1778Y	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein			68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)			CATCCTCATTATAGAAAGCTG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000275034.4	1	1	hg19	CCDS4987.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	0	0	1	82	366	0	90	1	9.999913e-01	24	53	0	90	2		0	0	0	0	0	2	1	1	81	362	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHIP	55023	broad.mit.edu	37	6	79655978	79655978	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79655978C>A	ENST00000275034.4	-	38	4538		c.e38-1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein			68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)			CCTTTCAGGGCTGTAAATAAA	0.328000																								0							SO:0001630	splice_region_variant			ENST00000275034.4	1	1	hg19	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668108	0.67814	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHIP	79712697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.343000	0.65976	2.941000	0.99782	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1	85	490	0	99	0	2.243438e-02	1	1	0	99	2	0	6.048371e-02	0	3	0	2	2	1	1	85	484	0	97	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHIP	55023	broad.mit.edu	37	6	79671415	79671415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79671415C>T	ENST00000275034.4	-	31	3815	c.3648G>A	c.(3646-3648)agG>agA	p.R1216R	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein			68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)			ACCTGTAAAACCTGTTTTCCA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000275034.4	1	1	hg19	CCDS4987.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1	39	182	0	44	1	9.931109e-01	9	30	0	44	2		0	0	0	0	0	2	1	1	39	180	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PHIP	55023	broad.mit.edu	37	6	79692681	79692681	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79692681C>T	ENST00000275034.4	-	23	2858	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein			68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)			ttttcttttcctttttaatct	0.308000																								0							SO:0001819	synonymous_variant			ENST00000275034.4	1	1	hg19	CCDS4987.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1	27	159	0	51	1	9.954700e-01	12	41	0	51	2		0	0	0	0	0	2	1	9.999999e-01	25	148	0	51	2								-3.089670	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999650	0.990000	1	9.900000e-01	1
PHIP	55023	broad.mit.edu	37	6	79724895	79724895	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79724895C>T	ENST00000275034.4	-	15	1595	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein			68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)			TAGGATCGAACGGGTGTGGTT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000275034.4	1	1	hg19	CCDS4987.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1	35	202	0	56	1	9.359889e-01	10	19	0	56	2		0	0	0	0	0	2	1	1	35	200	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999933	0.990000	1	9.900000e-01	1
LCA5	167691	broad.mit.edu	37	6	80197365	80197365	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80197365G>A	ENST00000392959.1	-	9	2061	c.1450C>T	c.(1450-1452)Cta>Tta	p.L484L	LCA5_ENST00000369846.4_Silent_p.L484L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5			32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)			GGGTATTTTAGATTTCGAGAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000392959.1	1	1	hg19	CCDS4990.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	1	0	0	34	759	0	131	0	3.338628e-01	1	26	0	131	2		0	0	0	0	0	2	1	1	34	743	0	130	2								-4.571931	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.490000	0.350000	0.670000	0.500000	0.508395	0.490000	0	4.100000e-01	5.900000e-01
LCA5	167691	broad.mit.edu	37	6	80198831	80198831	+	Missense_Mutation	SNP	C	C	T	rs141821682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80198831C>T	ENST00000392959.1	-	8	1812	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I	LCA5_ENST00000369846.4_Missense_Mutation_p.V401I|LCA5_ENST00000467898.3_Missense_Mutation_p.V401I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5			32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)			TCCTGTTTTACGACATGGAGT	0.403000																								0							SO:0001583	missense			ENST00000392959.1	1	1	hg19	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634144	0.14322	2.27E-4	2.33E-4	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.30714	1.52;1.52	5.29	0.64	0.17752	.	1.834740	0.02223	N	0.064199	T	0.10121	0.0248	L	0.46157	1.445	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.14062	-1.0486	10	0.33940	T	0.23	-1.0538	4.2696	0.10780	0.2156:0.3739:0.0:0.4106	.	401	Q86VQ0	LCA5_HUMAN	I	401	ENSP00000358861:V401I;ENSP00000376686:V401I	ENSP00000358861:V401I	V	-	1	0	LCA5	80255550	0.000000	0.05858	0.009000	0.14445	0.018000	0.09664	-0.074000	0.11450	0.115000	0.18071	-0.123000	0.14984	GTA		TCGA-IB-7651-01A-11D-2154-08	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	0	0	1	77	483	0	85	1	9.805900e-01	10	31	0	85	2		0	0	0	0	0	2	1	1	77	471	0	84	2								-20.000000	1	1	121412	11	45	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TTK	7272	broad.mit.edu	37	6	80723075	80723075	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80723075A>C	ENST00000369798.2	+	9	1087	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_ENST00000509894.1_Missense_Mutation_p.N326H|TTK_ENST00000230510.3_Missense_Mutation_p.N326H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	p.N310H(1)|p.N326H(1)		53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)			TGAATTAAGAAATTTAAAGGT	0.358000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000369798.2	1	1	hg19	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880323	0.33162	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.69806	-0.41;-0.41;-0.43	5.63	-2.13	0.07144	.	0.718330	0.15478	N	0.260260	T	0.16342	0.0393	N	0.04508	-0.205	0.22737	N	0.998796	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.004	T	0.25984	-1.0116	10	0.34782	T	0.22	.	5.9981	0.19505	0.3703:0.4243:0.2054:0.0	.	326;326	P33981;A8K8U5	TTK_HUMAN;.	H	326	ENSP00000422936:N326H;ENSP00000230510:N326H;ENSP00000358813:N326H	ENSP00000230510:N326H	N	+	1	0	TTK	80779794	0.310000	0.24527	0.778000	0.31720	0.805000	0.45488	-0.315000	0.08081	-0.229000	0.09854	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2	1	0	1	187	686	0	80	1	8.343826e-01	3	11	0	80	2		0	0	0	0	0	2	1	1	185	671	0	80	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCKDHB	594	broad.mit.edu	37	6	80912929	80912929	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80912929G>T	ENST00000320393.6	+	8	998	c.951G>T	c.(949-951)aaG>aaT	p.K317N	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Splice_Site_p.K317N	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide			15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)			CAATTTGTAAGGTATGAATAT	0.368000																								0							SO:0001630	splice_region_variant			ENST00000320393.6	1	0	hg19	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743814	0.30865	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.91295	-2.82;-2.82	5.92	5.06	0.68205	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.043164	0.85682	D	0.000000	T	0.72787	0.3504	N	0.20328	0.56	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.69383	-0.5160	10	0.25751	T	0.34	-18.8136	11.0312	0.47774	0.0849:0.0:0.9151:0.0	.	317	P21953	ODBB_HUMAN	N	317;317;247	ENSP00000318351:K317N;ENSP00000348880:K317N	ENSP00000318351:K317N	K	+	3	2	BCKDHB	80969648	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.117000	0.77129	1.518000	0.48934	-0.136000	0.14681	AAG		TCGA-IB-7651-01A-11D-2154-08	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	1	0	1	58	302	0	89	1	9.968434e-01	4	44	0	89	2		0	0	0	0	0	2	1	1	55	292	0	88	2								-2.731396	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOPEY1	23033	broad.mit.edu	37	6	83810551	83810551	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83810551T>G	ENST00000349129.2	+	4	526	c.266T>G	c.(265-267)aTt>aGt	p.I89S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1			67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)			ACATATGAAATTATCTTCAAA	0.338000																								0							SO:0001583	missense			ENST00000349129.2	1	1	hg19	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890540	0.72524	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.24538	1.87;1.86;1.85	5.17	5.17	0.71159	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.38649	1.16	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.85130	0.995;0.997;0.997	T	0.02885	-1.1098	10	0.32370	T	0.25	.	15.285	0.73822	0.0:0.0:0.0:1.0	.	89;89;89	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	89	ENSP00000195654:I89S;ENSP00000237163:I89S;ENSP00000358754:I89S	ENSP00000237163:I89S	I	+	2	0	DOPEY1	83867270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.602000	0.82796	2.071000	0.62044	0.482000	0.46254	ATT		TCGA-IB-7651-01A-11D-2154-08	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	1	0	1	211	967	0	241	0	7.053322e-01	1	12	0	241	2		0	0	0	0	0	2	1	1	209	949	0	240	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOPEY1	23033	broad.mit.edu	37	6	83848714	83848714	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83848714C>T	ENST00000349129.2	+	21	5213	c.4953C>T	c.(4951-4953)caC>caT	p.H1651H	DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.H1632H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1			67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)			TGCATCAGCACTGTGCATGTA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000349129.2	1	1	hg19	CCDS4996.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	1	0	0	88	293	0	85	1	9.994727e-01	7	33	0	85	2		0	0	0	0	0	2	1	1	86	291	0	85	2								-4.520658	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOPEY1	23033	broad.mit.edu	37	6	83866927	83866927	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83866927C>T	ENST00000349129.2	+	35	6891	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1			67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)			TCTCCGTTTGCCACAGGTGCC	0.393000																								0							SO:0001583	missense			ENST00000349129.2	1	1	hg19	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428600	0.43122	.	.	ENSG00000083097	ENST00000349129	T	0.39592	1.07	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.35487	1.065	0.80722	D	1	B;P;B	0.39665	0.107;0.682;0.086	B;B;B	0.33890	0.017;0.172;0.013	T	0.02797	-1.1109	10	0.25751	T	0.34	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2102;2202;2211	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	2211	ENSP00000195654:P2211S	ENSP00000195654:P2211S	P	+	1	0	DOPEY1	83923646	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	1	0	1	80	380	0	77	1	9.994756e-01	11	44	0	77	2		0	0	0	0	0	2	1	1	80	376	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOPEY1	23033	broad.mit.edu	37	6	83877656	83877656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83877656G>A	ENST00000349129.2	+	39	7428	c.7168G>A	c.(7168-7170)Gtg>Atg	p.V2390M	DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M|PGM3_ENST00000512866.1_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1			67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)			CATCTGCACCGTGCGCAGTAT	0.512000																								0							SO:0001583	missense			ENST00000349129.2	1	1	hg19	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401973	0.25291	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.51574	0.7;1.68	5.76	4.88	0.63580	.	0.118362	0.56097	N	0.000021	T	0.17916	0.0430	N	0.24115	0.695	0.80722	D	1	B;B;B	0.15473	0.013;0.011;0.011	B;B;B	0.08055	0.003;0.003;0.003	T	0.07481	-1.0770	10	0.54805	T	0.06	.	9.5589	0.39357	0.1621:0.0:0.8379:0.0	.	2281;2381;2390	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	M	2390;2294;2294	ENSP00000195654:V2390M;ENSP00000237163:V2294M	ENSP00000237163:V2294M	V	+	1	0	DOPEY1	83934375	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	4.475000	0.60210	1.413000	0.46997	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	1	0	1	43	169	0	40	1	1	25	86	0	40	2		0	0	0	0	0	2	1	1	41	168	0	40	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGM3	5238	broad.mit.edu	37	6	83885690	83885690	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83885690C>T	ENST00000283977.4	-	8	1002	c.876G>A	c.(874-876)ggG>ggA	p.G292G	PGM3_ENST00000506587.1_Silent_p.G401G|PGM3_ENST00000513973.1_Silent_p.G373G|PGM3_ENST00000512866.1_Silent_p.G373G					phosphoglucomutase 3			18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)			CAGTGCCATGCCCATTTGCTT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000283977.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	1	0	1	48	211	0	63	1	1	36	86	0	63	2		0	0	0	0	0	2	1	1	48	209	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ME1	4199	broad.mit.edu	37	6	83937109	83937109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937109C>T	ENST00000369705.3	-	11	1336	c.1220G>A	c.(1219-1221)aGt>aAt	p.S407N	ME1_ENST00000543031.1_Missense_Mutation_p.S332N|ME1_ENST00000541327.1_Missense_Mutation_p.S241N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic			36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)			AGTTGGATTACTCAAAGCAAA	0.333000																								0							SO:0001583	missense			ENST00000369705.3	1	1	hg19	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402015	0.96030	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.45276	0.9;0.9;0.9	5.96	5.96	0.96718	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	H	0.99600	4.65	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.87963	0.2731	10	0.87932	D	0	-25.9458	20.4144	0.99026	0.0:1.0:0.0:0.0	.	407	P48163	MAOX_HUMAN	N	407;67;241;332	ENSP00000358719:S407N;ENSP00000439912:S241N;ENSP00000446114:S332N	ENSP00000358719:S407N	S	-	2	0	ME1	83993828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.833000	0.97629	0.555000	0.69702	AGT		TCGA-IB-7651-01A-11D-2154-08	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1	1	0	0	12	244	0	58	0	6.776258e-01	1	47	0	58	2		0	0	0	0	0	2	1	9.991389e-01	12	242	0	58	2								-14.408380	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.550000	0.300000	0.880000	0.530000	0.573134	0.550000	0	4.100000e-01	7.200000e-01
ME1	4199	broad.mit.edu	37	6	83937191	83937191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937191C>T	ENST00000369705.3	-	11	1254	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	ME1_ENST00000543031.1_Missense_Mutation_p.A305T|ME1_ENST00000541327.1_Missense_Mutation_p.A214T	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic			36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)			CCAATTGCAGCAACTCCTAAT	0.368000																								0							SO:0001583	missense			ENST00000369705.3	1	1	hg19	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107717	0.94292	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.29142	1.58;1.58;1.58	5.87	5.87	0.94306	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.55990	1.75	0.80722	D	1	D	0.54207	0.965	P	0.46629	0.522	T	0.05550	-1.0878	10	0.62326	D	0.03	-22.7069	20.1944	0.98239	0.0:1.0:0.0:0.0	.	380	P48163	MAOX_HUMAN	T	380;40;214;305	ENSP00000358719:A380T;ENSP00000439912:A214T;ENSP00000446114:A305T	ENSP00000358719:A380T	A	-	1	0	ME1	83993910	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.628000	0.83189	2.777000	0.95525	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1	1	0	1	59	363	0	84	1	9.466666e-01	2	30	0	84	2		0	0	0	0	0	2	1	1	58	361	0	82	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
PRSS35	167681	broad.mit.edu	37	6	84234319	84234319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84234319G>A	ENST00000369700.3	+	2	1336	c.1159G>A	c.(1159-1161)Gtt>Att	p.V387I	PRSS35_ENST00000536636.1_Missense_Mutation_p.V387I	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35			32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)			GGACTACAACGTTGCTGTTCG	0.498000																								0							SO:0001583	missense			ENST00000369700.3	1	1	hg19	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210808	0.95069	0.0	1.16E-4	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65113	-0.6247	10	0.72032	D	0.01	-20.4384	20.2946	0.98546	0.0:0.0:1.0:0.0	.	387	Q8N3Z0	PRS35_HUMAN	I	387	ENSP00000440870:V387I;ENSP00000358714:V387I	ENSP00000358714:V387I	V	+	1	0	PRSS35	84291038	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	GTT		TCGA-IB-7651-01A-11D-2154-08	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	1	0	1	52	228	0	46	0	1.637050e-01	0	4	0	46	2		0	0	0	0	0	2	1	1	52	225	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNAP91	9892	broad.mit.edu	37	6	84269857	84269857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84269857G>T	ENST00000439399.2	-	28	2913	c.2597C>A	c.(2596-2598)cCc>cAc	p.P866H	SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H|SNAP91_ENST00000521485.1_Missense_Mutation_p.P861H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|SNAP91_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000428679.2_Missense_Mutation_p.P866H	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa			37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)			TCCAAAGGGGGGCCTCATCAT	0.517000																								0							SO:0001583	missense			ENST00000439399.2	0	1	hg19	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632886	0.87660	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.39406	1.37;1.36;1.36;1.37;1.36;1.67;1.36;1.36;1.67;1.08	5.75	5.75	0.90469	.	0.098291	0.64402	D	0.000001	T	0.63331	0.2502	M	0.79123	2.44	0.39244	D	0.963901	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.996;0.996;0.996	T	0.66775	-0.5838	10	0.87932	D	0	-11.0891	19.9525	0.97208	0.0:0.0:1.0:0.0	.	742;559;836;866;864	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	H	861;866;866;861;866;559;836;866;559;207	ENSP00000429776:P861H;ENSP00000358708:P866H;ENSP00000400459:P866H;ENSP00000195649:P861H;ENSP00000412492:P866H;ENSP00000413277:P559H;ENSP00000428511:P836H;ENSP00000428215:P866H;ENSP00000428026:P559H;ENSP00000430255:P207H	ENSP00000195649:P861H	P	-	2	0	SNAP91	84326576	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.900000	0.87376	2.719000	0.93026	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1	0	0	0	9	359	0	68	0	0	0	1	0	68	2		0	0	0	0	0	2	1	9.930043e-01	8	343	0	67	2								-3.251496	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.290000	0.140000	0.510000	0.280000	0.309711	0.290000	0	2.000000e-01	4.000000e-01
SNAP91	9892	broad.mit.edu	37	6	84311055	84311055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84311055G>A	ENST00000439399.2	-	16	1575	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000428679.2_Missense_Mutation_p.A420V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa			37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)			AGAAGCTGAGGCAGTTGCAAT	0.463000																								0							SO:0001583	missense			ENST00000439399.2	1	1	hg19	CCDS47455.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.37	2.516264	0.44763	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	T;T;T;T;T;T;T	0.16324	2.38;2.38;2.38;2.38;2.35;2.37;2.38	5.46	5.46	0.80206	.	0.531595	0.22220	N	0.062961	T	0.06462	0.0166	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34103	0.437;0.437;0.025	B;B;B	0.24541	0.037;0.054;0.021	T	0.21965	-1.0230	10	0.18276	T	0.48	-4.3839	17.8828	0.88845	0.0:0.0:1.0:0.0	.	418;420;418	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	V	420;420;420;420;420;418;420;146	ENSP00000429776:A420V;ENSP00000358708:A420V;ENSP00000400459:A420V;ENSP00000195649:A420V;ENSP00000412492:A420V;ENSP00000428511:A418V;ENSP00000428215:A420V	ENSP00000195649:A420V	A	-	2	0	SNAP91	84367774	1.000000	0.71417	0.998000	0.56505	0.317000	0.28152	8.735000	0.91549	2.570000	0.86706	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1	1	0	1	31	121	0	28	0	0	0	1	0	28	2		0	0	0	0	0	2	1	1	29	118	0	28	2								-3.555518	1	1	120880	26	42	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SNAP91	9892	broad.mit.edu	37	6	84417642	84417642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84417642G>A	ENST00000439399.2	-	2	321	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L|SNAP91_ENST00000521485.1_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_Missense_Mutation_p.S2L|SNAP91_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000428679.2_Missense_Mutation_p.S2L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa			37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)			CGTTTGGCCCGACATCTTCTG	0.587000																								0							SO:0001583	missense			ENST00000439399.2	0	1	hg19	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986026	0.93044	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484;ENST00000519825	T;T;T;T;T;T;T;T;T;T	0.37411	1.87;1.87;1.87;1.87;1.86;2.13;1.94;1.87;2.13;1.2	5.36	5.36	0.76844	.	0.118037	0.64402	D	0.000011	T	0.56307	0.1976	M	0.74881	2.28	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.75484	0.986;0.968;0.968	T	0.61153	-0.7120	10	0.87932	D	0	-3.8263	19.0968	0.93255	0.0:0.0:1.0:0.0	.	2;2;2	O60641-3;E5RI02;E1P549	.;.;.	L	2	ENSP00000429776:S2L;ENSP00000358708:S2L;ENSP00000400459:S2L;ENSP00000195649:S2L;ENSP00000412492:S2L;ENSP00000413277:S2L;ENSP00000428511:S2L;ENSP00000428215:S2L;ENSP00000428026:S2L;ENSP00000430071:S2L	ENSP00000195649:S2L	S	-	2	0	SNAP91	84474361	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.860000	0.99555	2.516000	0.84829	0.462000	0.41574	TCG		TCGA-IB-7651-01A-11D-2154-08	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1	1	0	0	60	187	0	30	0	2.541545e-01	0	4	0	30	2		0	0	0	0	0	2	1	1	60	179	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIPPLY2	134701	broad.mit.edu	37	6	84566960	84566960	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84566960G>A	ENST00000369689.1	+	4	390		c.e4-1		CYB5R4_ENST00000369681.5_5'Flank|RIPPLY2_ENST00000369687.1_Splice_Site|CYB5R4_ENST00000369679.4_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2			7					GCTTCTTTCAGACTATTTTGG	0.289000																								0							SO:0001630	splice_region_variant			ENST00000369689.1	1	1	hg19	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173706	0.78452	0.0	1.16E-4	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIPPLY2	84623679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.729000	0.91490	2.879000	0.98667	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	1	0	1	44	227	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	44	224	0	83	2								-19.998740	1	1	121394	1	30	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MRAP2	112609	broad.mit.edu	37	6	84798871	84798871	+	Missense_Mutation	SNP	C	C	A	rs145761372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84798871C>A	ENST00000257776.4	+	4	424	c.289C>A	c.(289-291)Cct>Act	p.P97T		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2			19					CTTTGGAAGACCTCTGGAGCC	0.433000																								0							SO:0001583	missense			ENST00000257776.4	1	1	hg19	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785756	0.70337	.	.	ENSG00000135324	ENST00000257776	D	0.88741	-2.42	5.18	5.18	0.71444	.	0.274181	0.36034	N	0.002832	T	0.77877	0.4196	L	0.38531	1.155	0.42806	D	0.99394	B	0.30851	0.297	B	0.27262	0.078	T	0.80254	-0.1459	10	0.56958	D	0.05	-5.0941	13.9655	0.64207	0.1516:0.8483:0.0:0.0	.	97	Q96G30	MRAP2_HUMAN	T	97	ENSP00000257776:P97T	ENSP00000257776:P97T	P	+	1	0	MRAP2	84855590	0.986000	0.35501	0.992000	0.48379	0.996000	0.88848	3.005000	0.49521	2.589000	0.87451	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	1	0	1	102	364	0	87	1	9.999293e-01	19	33	0	87	2		0	0	0	0	0	2	1	1	99	356	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1009	0	broad.mit.edu	37	6	84870536	84870536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84870536G>A	ENST00000403245.3	-	21	2890	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*	NM_014895.2	NP_055710.2						43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)			CATACTTGTCGCTCCAGATCC	0.373000																								0							SO:0001587	stop_gained			ENST00000403245.3	0	1	hg19	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	42	9.529168	0.99196	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.87	4.01	0.46588	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9369	14.7397	0.69445	0.0:0.0:0.7178:0.2822	.	.	.	.	X	850;926	.	ENSP00000257766:R850X	R	-	1	2	KIAA1009	84927255	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.088000	0.50175	0.735000	0.32537	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1	1	0	0	33	340	0	59	0	3.654748e-01	1	13	0	59	2		0	0	0	0	0	2	1	1	32	333	0	59	2								-10.862720	1	1	121396	3	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.720000	1.000000	1.000000	0.951087	0.990000	1	8.600000e-01	1
KIAA1009	0	broad.mit.edu	37	6	84879094	84879094	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84879094T>C	ENST00000403245.3	-	18	2452	c.2338A>G	c.(2338-2340)Aga>Gga	p.R780G	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G	NM_014895.2	NP_055710.2						43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)			TTCTGATTTCTTGTGGGCTCT	0.318000																								0							SO:0001583	missense			ENST00000403245.3	0	1	hg19	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520900	0.44866	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32515	1.45;1.45	5.96	4.79	0.61399	.	0.320498	0.31167	N	0.008138	T	0.14184	0.0343	L	0.40543	1.245	0.25363	N	0.988764	P	0.39480	0.675	B	0.43658	0.426	T	0.13229	-1.0517	10	0.20519	T	0.43	-7.1047	12.6876	0.56956	0.0:0.0:0.1379:0.8621	.	780	Q5TB80	QN1_HUMAN	G	704;780	ENSP00000257766:R704G;ENSP00000385215:R780G	ENSP00000257766:R704G	R	-	1	2	KIAA1009	84935813	0.881000	0.30235	0.732000	0.30844	0.971000	0.66376	3.972000	0.56838	1.064000	0.40671	0.460000	0.39030	AGA		TCGA-IB-7651-01A-11D-2154-08	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1	1	0	1	9	25	0	9	0	8.495632e-01	0	12	0	9	2		0	0	0	0	0	2	1	9.963489e-01	9	25	0	9	2								-10.583100	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998418	0.990000	1	9.900000e-01	1
TBX18	9096	broad.mit.edu	37	6	85473690	85473690	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:85473690G>A	ENST00000369663.5	-	1	547	c.210C>T	c.(208-210)gaC>gaT	p.D70D	TBX18_ENST00000606521.1_5'Flank|TBX18_ENST00000606784.1_5'Flank	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18			61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)			CAGCGCCTTCGTCTCCCTCAG	0.756000																								0							SO:0001819	synonymous_variant			ENST00000369663.5	0	1	hg19	CCDS34495.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	1	0	0	18	45	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.999923e-01	17	44	0	6	2								-20.000000	1	0	116040	3	25	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
NT5E	4907	broad.mit.edu	37	6	86197066	86197066	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86197066A>T	ENST00000257770.3	+	5	1012	c.963A>T	c.(961-963)aaA>aaT	p.K321N	NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)			25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		Cytarabine(DB00987)|Pentoxifylline(DB00806)	CAAGCATAAAAGCAGACATTA	0.363000													Melanoma(140;797 1765 2035 2752 18208)											0							SO:0001583	missense			ENST00000257770.3	1	1	hg19	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.08|16.08	3.022934|3.022934	0.54683|0.54683	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334;ENST00000437581|ENST00000369647;ENST00000257770;ENST00000369651	T;T|T;T	0.57752|0.56776	0.45;0.38|0.44;0.45	5.38|5.38	4.22|4.22	0.49857|0.49857	.|.	0.169287|0.169287	0.52532|0.52532	D|D	0.000063|0.000063	T|T	0.37293|0.37293	0.0998|0.0998	M|M	0.64997|0.64997	1.995|1.995	0.40974|0.40974	D|D	0.984722|0.984722	.|P;P	.|0.42735	.|0.788;0.67	.|P;B	.|0.45474	.|0.482;0.381	T|T	0.19877|0.19877	-1.0292|-1.0292	8|10	0.46703|0.25106	T|T	0.11|0.35	-25.9351|-25.9351	9.7274|9.7274	0.40339|0.40339	0.8553:0.0:0.1447:0.0|0.8553:0.0:0.1447:0.0	.|.	.|321;321	.|B3KQI8;P21589	.|.;5NTD_HUMAN	M|N	86;17|97;321;321	ENSP00000414674:K86M;ENSP00000387630:K17M|ENSP00000257770:K321N;ENSP00000358665:K321N	ENSP00000414674:K86M|ENSP00000257770:K321N	K|K	+|+	2|3	0|2	NT5E|NT5E	86253785|86253785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	3.070000|3.070000	0.50033|0.50033	0.894000|0.894000	0.36317|0.36317	0.455000|0.455000	0.32223|0.32223	AAG|AAA		TCGA-IB-7651-01A-11D-2154-08	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1	1	0	1	71	309	0	71	1	1	17	124	0	71	2		0	0	0	0	0	2	1	1	70	300	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX14	57231	broad.mit.edu	37	6	86223854	86223854	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86223854G>T	ENST00000314673.3	-	25	2667	c.2491C>A	c.(2491-2493)Ctt>Att	p.L831I	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14			22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)			TTACACTGAAGATAGTAATCA	0.383000																								0							SO:0001583	missense			ENST00000314673.3	1	1	hg19	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264596	0.40095	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	6.03	5.15	0.70609	Sorting nexin, C-terminal (1);	0.124399	0.56097	N	0.000029	T	0.05777	0.0151	N	0.21448	0.665	0.45899	D	0.998745	B;B;B;B	0.15473	0.007;0.013;0.009;0.007	B;B;B;B	0.19148	0.007;0.024;0.02;0.011	T	0.23940	-1.0174	10	0.02654	T	1	-7.3699	7.0157	0.24887	0.1384:0.0:0.7116:0.15	.	822;778;831;779	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	I	778;831;550;779;822;749	ENSP00000257769:L778I;ENSP00000313121:L831I;ENSP00000420938:L550I;ENSP00000427380:L779I;ENSP00000358641:L822I;ENSP00000425630:L749I	ENSP00000313121:L831I	L	-	1	0	SNX14	86280573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.655000	0.46707	1.532000	0.49169	0.555000	0.69702	CTT		TCGA-IB-7651-01A-11D-2154-08	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	1	0	0	20	317	0	99	1	9.998551e-01	6	223	0	99	2		0	0	0	0	0	2	1	9.999944e-01	20	308	0	99	2								-3.317605	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.690000	0.430000	1.000000	1.000000	0.706270	0.690000	0	5.500000e-01	8.500000e-01
SNX14	57231	broad.mit.edu	37	6	86256893	86256893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86256893G>A	ENST00000314673.3	-	12	1221	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14			22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)			TTCATAAAACGAAATAAAAGA	0.338000																								0							SO:0001583	missense			ENST00000314673.3	1	1	hg19	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368792	0.82463	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59	5.39	4.52	0.55395	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.096864	0.64402	D	0.000001	T	0.04907	0.0132	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;P;D;P	0.65987	0.901;0.901;0.94;0.857	T	0.37641	-0.9697	10	0.45353	T	0.12	-10.6131	13.9387	0.64041	0.0727:0.0:0.9273:0.0	.	349;305;349;297	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	C	305;349;349;297;349;276	ENSP00000257769:R305C;ENSP00000313121:R349C;ENSP00000420938:R349C;ENSP00000427380:R297C;ENSP00000358641:R349C;ENSP00000425630:R276C	ENSP00000313121:R349C	R	-	1	0	SNX14	86313612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.659000	0.83766	1.279000	0.44446	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	1	0	1	27	173	0	36	1	9.999957e-01	34	98	0	36	2		0	0	0	0	0	2	1	1	26	169	0	36	2								-3.226269	1	1	121410	7	33	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999153	0.990000	1	9.900000e-01	1
SNX14	57231	broad.mit.edu	37	6	86259508	86259508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86259508G>A	ENST00000314673.3	-	8	900	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14			22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)			CTTAAATAGTGCAATTCATCT	0.333000																								0							SO:0001583	missense			ENST00000314673.3	1	1	hg19	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	7.051	0.564490	0.13498	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.31247	1.96;1.92;1.5;1.94;1.92;1.93	5.39	5.39	0.77823	Phox-associated domain (2);	0.169061	0.50627	D	0.000120	T	0.11922	0.0290	N	0.22421	0.69	0.37448	D	0.914689	B;B;B;B	0.28291	0.009;0.206;0.018;0.004	B;B;B;B	0.27076	0.029;0.076;0.049;0.029	T	0.05971	-1.0853	10	0.59425	D	0.04	-4.7065	12.4906	0.55897	0.0765:0.0:0.9235:0.0	.	242;198;242;190	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	Y	198;242;242;190;242;169	ENSP00000257769:H198Y;ENSP00000313121:H242Y;ENSP00000420938:H242Y;ENSP00000427380:H190Y;ENSP00000358641:H242Y;ENSP00000425630:H169Y	ENSP00000313121:H242Y	H	-	1	0	SNX14	86316227	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.306000	0.65756	2.539000	0.85634	0.484000	0.47621	CAC		TCGA-IB-7651-01A-11D-2154-08	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	1	0	1	63	323	0	55	1	1	36	127	0	55	2		0	0	0	0	0	2	1	1	62	318	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SYNCRIP	10492	broad.mit.edu	37	6	86346734	86346734	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86346734G>A	ENST00000369622.3	-	6	1117	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.A206V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein			33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)			AGTGACAAACGCATAACCTCT	0.393000																								0							SO:0001583	missense			ENST00000369622.3	0	1	hg19	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621423	0.96660	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.61742	0.41;0.08	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.953;0.969;0.998;0.994;0.998;0.999	D	0.87738	0.2583	10	0.87932	D	0	.	19.5693	0.95406	0.0:0.0:1.0:0.0	.	206;206;108;54;206;206;206	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	V	206	ENSP00000347380:A206V;ENSP00000358635:A206V	ENSP00000347380:A206V	A	-	2	0	SYNCRIP	86403453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.724000	0.93272	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	1	0	0	20	421	0	90	0	9.999835e-01	1	386	0	90	2		0	0	0	0	0	2	1	9.999950e-01	19	417	0	90	2								-4.220135	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.530000	0.330000	0.770000	0.520000	0.544490	0.530000	0	4.200000e-01	6.500000e-01
CGA	1081	broad.mit.edu	37	6	87796039	87796039	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87796039T>C	ENST00000369582.2	-	3	302	c.202A>G	c.(202-204)Aag>Gag	p.K68E	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide			15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)			ATCGTCTTCTTGGACCTTAGT	0.493000																								0							SO:0001583	missense			ENST00000369582.2	1	1	hg19	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187126	0.57909	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.45	0.53987	.	0.129166	0.64402	D	0.000001	T	0.56381	0.1981	M	0.62723	1.935	0.50039	D	0.999847	D	0.55385	0.971	P	0.54544	0.755	T	0.62101	-0.6925	9	0.62326	D	0.03	-16.9707	12.9504	0.58397	0.0:0.0:0.1354:0.8646	.	68	P01215	GLHA_HUMAN	E	68	.	ENSP00000358595:K68E	K	-	1	0	CGA	87852758	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	5.704000	0.68347	0.948000	0.37687	-0.399000	0.06403	AAG		TCGA-IB-7651-01A-11D-2154-08	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	1	0	1	123	665	0	147	0	1.191529e-01	0	4	0	147	2		0	0	0	0	0	2	1	1	121	648	0	147	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF292	23036	broad.mit.edu	37	6	87968327	87968327	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968327G>A	ENST00000369577.3	+	8	5023	c.4980G>A	c.(4978-4980)aaG>aaA	p.K1660K	ZNF292_ENST00000339907.4_Silent_p.K1655K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292			89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)			TCATAGCAAAGAGTGTTGAAA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000369577.3	1	1	hg19	CCDS47457.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	1	0	1	24	110	0	25	1	9.974527e-01	13	34	0	25	2		0	0	0	0	0	2	1	9.999998e-01	24	109	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
ZNF292	23036	broad.mit.edu	37	6	87968743	87968743	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968743A>G	ENST00000369577.3	+	8	5439	c.5396A>G	c.(5395-5397)aAc>aGc	p.N1799S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292			89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)			CCTTCAGTAAACACTGTGCAA	0.353000																								0							SO:0001583	missense			ENST00000369577.3	1	1	hg19	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961086	0.34565	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08008	3.14;3.15	5.86	4.7	0.59300	.	0.216097	0.37095	N	0.002260	T	0.04907	0.0132	N	0.24115	0.695	0.33391	D	0.576128	D	0.63880	0.993	P	0.51516	0.672	T	0.17868	-1.0355	10	0.72032	D	0.01	.	12.125	0.53913	0.9332:0.0:0.0668:0.0	.	1799	O60281	ZN292_HUMAN	S	1799;1794	ENSP00000358590:N1799S;ENSP00000342847:N1794S	ENSP00000342847:N1794S	N	+	2	0	ZNF292	88025462	0.554000	0.26522	1.000000	0.80357	0.612000	0.37316	1.086000	0.30853	1.153000	0.42468	-0.263000	0.10527	AAC		TCGA-IB-7651-01A-11D-2154-08	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	1	0	1	11	123	0	33	1	8.951201e-01	14	33	0	33	2		0	0	0	0	0	2	1	9.985014e-01	11	122	0	32	2								-6.410182	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.950000	0.510000	1.000000	1.000000	0.885411	0.950000	1	7.100000e-01	1
ZNF292	23036	broad.mit.edu	37	6	87970601	87970601	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970601A>C	ENST00000369577.3	+	8	7297	c.7254A>C	c.(7252-7254)tcA>tcC	p.S2418S	ZNF292_ENST00000339907.4_Silent_p.S2413S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292			89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)			CATTTACATCACAACACCGAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000369577.3	0	1	hg19	CCDS47457.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	0	0	0	4	78	0	21	1	8.126712e-01	8	54	0	21	2		0	0	0	0	0	2	1	8.862306e-01	4	76	0	21	2								-7.940483	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.600000	0.210000	1.000000	1.000000	0.627592	0.600000	0	3.700000e-01	9.100000e-01
GJB7	375519	broad.mit.edu	37	6	87994334	87994334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87994334C>A	ENST00000525899.1	-	3	642	c.297G>T	c.(295-297)gaG>gaT	p.E99D	GJB7_ENST00000296882.3_Missense_Mutation_p.E99D	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa			5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)			TCTCTCTACCCTCATGATAGG	0.448000																								0							SO:0001583	missense			ENST00000525899.1	0	1	hg19	CCDS5008.1	.	.	.	.	.	.	.	.	.	.	C	1.983	-0.433578	0.04669	.	.	ENSG00000164411	ENST00000525899;ENST00000296882;ENST00000369576	D;D;D	0.99121	-5.45;-5.45;-5.45	4.84	2.07	0.26955	Connexin, N-terminal (1);	0.151148	0.40469	U	0.001090	D	0.93851	0.8033	L	0.48642	1.525	0.09310	N	1	B	0.12013	0.005	B	0.24394	0.053	D	0.88918	0.3364	10	0.20519	T	0.43	.	7.5203	0.27624	0.0:0.561:0.0:0.439	.	99	Q6PEY0	CXB7_HUMAN	D	99	ENSP00000435355:E99D;ENSP00000296882:E99D;ENSP00000358589:E99D	ENSP00000296882:E99D	E	-	3	2	GJB7	88051053	0.819000	0.29175	0.007000	0.13788	0.004000	0.04260	0.528000	0.23002	0.113000	0.18004	-0.291000	0.09656	GAG		TCGA-IB-7651-01A-11D-2154-08	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1	0	0	0	11	391	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	9.980330e-01	10	378	0	84	2								-2.600730	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.320000	0.170000	0.540000	0.320000	0.340790	0.320000	0	2.300000e-01	4.300000e-01
C6orf165	154313	broad.mit.edu	37	6	88119631	88119631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88119631G>A	ENST00000507897.1	+	2	157	c.74G>A	c.(73-75)gGa>gAa	p.G25E	C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165			19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)			GCAGCCCATGGAGAGATTGTT	0.333000																								0							SO:0001583	missense			ENST00000507897.1	1	1	hg19	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479913	0.84747	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.34667	1.35;1.37	5.39	5.39	0.77823	.	0.051960	0.85682	D	0.000000	T	0.52240	0.1722	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;P	0.68943	0.961;0.907	T	0.50189	-0.8857	10	0.51188	T	0.08	.	19.1063	0.93296	0.0:0.0:1.0:0.0	.	25;25	Q8IYR0;E1P509	CF165_HUMAN;.	E	25	ENSP00000358575:G25E;ENSP00000422494:G25E	ENSP00000358575:G25E	G	+	2	0	C6orf165	88176350	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.803000	0.91915	2.671000	0.90904	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	1	0	1	93	337	0	91	0	2.090230e-01	0	4	0	91	2		0	0	0	0	0	2	1	1	90	331	0	91	2								-3.644585	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RARS2	57038	broad.mit.edu	37	6	88229394	88229394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88229394C>A	ENST00000369536.5	-	14	1189	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial			22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)			GTCTTCATTCCCTGTACTACT	0.403000																								0							SO:0001587	stop_gained			ENST00000369536.5	0	1	hg19	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	38	7.079834	0.98048	.	.	ENSG00000146282	ENST00000369536	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000358549:G382X	G	-	1	0	RARS2	88286113	1.000000	0.71417	0.982000	0.44146	0.961000	0.63080	7.158000	0.77470	2.833000	0.97629	0.585000	0.79938	GGA		TCGA-IB-7651-01A-11D-2154-08	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1	53	264	0	61	1	9.999999e-01	10	115	0	61	2		0	0	0	0	0	2	1	1	53	263	0	61	2								-2.523875	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RARS2	57038	broad.mit.edu	37	6	88240541	88240541	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240541A>C	ENST00000369536.5	-	9	777	c.732T>G	c.(730-732)ttT>ttG	p.F244L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial			22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)			TCAAGTCCCGAAATTTTTGCC	0.473000																								0							SO:0001583	missense			ENST00000369536.5	1	1	hg19	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338772	0.81911	.	.	ENSG00000146282	ENST00000369536	T	0.58358	0.34	6.17	1.25	0.21368	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.60845	1.875	0.53688	D	0.999976	P	0.47604	0.898	P	0.55391	0.775	T	0.41840	-0.9486	10	0.45353	T	0.12	.	9.2739	0.37688	0.6473:0.0:0.3527:0.0	.	244	Q5T160	SYRM_HUMAN	L	244	ENSP00000358549:F244L	ENSP00000358549:F244L	F	-	3	2	RARS2	88297260	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	1.724000	0.38064	-0.011000	0.14247	-0.274000	0.10170	TTT		TCGA-IB-7651-01A-11D-2154-08	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1	79	398	0	107	1	1	47	113	0	107	2		0	0	0	0	0	2	1	1	75	391	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RARS2	57038	broad.mit.edu	37	6	88240658	88240658	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240658A>C	ENST00000369536.5	-	9	660	c.615T>G	c.(613-615)gtT>gtG	p.V205V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial			22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)			CTTGTACATAAACCTAAAAGT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000369536.5	1	1	hg19	CCDS5011.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1	49	205	0	62	1	1	3	121	0	62	2		0	0	0	0	0	2	1	1	49	202	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RARS2	57038	broad.mit.edu	37	6	88272489	88272489	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88272489T>C	ENST00000369536.5	-	4	273	c.228A>G	c.(226-228)acA>acG	p.T76T		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial			22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)			CACTCACCACTGTATCACATC	0.338000																								0							SO:0001819	synonymous_variant			ENST00000369536.5	1	1	hg19	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	T	8.622	0.891586	0.17613	.	.	ENSG00000146282	ENST00000451155	.	.	.	5.51	4.35	0.52113	.	.	.	.	.	T	0.45054	0.1323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43956	-0.9359	4	.	.	.	.	8.2043	0.31443	0.0:0.0906:0.0:0.9094	.	.	.	.	R	104	.	.	Q	-	2	0	RARS2	88329208	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.098000	0.15189	0.918000	0.36919	-0.256000	0.11100	CAG		TCGA-IB-7651-01A-11D-2154-08	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1	41	180	0	82	1	9.999999e-01	41	75	0	82	2		0	0	0	0	0	2	1	1	40	176	0	81	2								-19.999950	1	1	121402	1	26	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPACA1	81833	broad.mit.edu	37	6	88763711	88763711	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88763711G>A	ENST00000237201.1	+	2	373	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1			20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)			AATGTGCACCGTTACATGTGG	0.348000																								0							SO:0001583	missense			ENST00000237201.1	1	1	hg19	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215641	0.58452	.	.	ENSG00000118434	ENST00000237201	T	0.32023	1.47	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000040	T	0.36054	0.0953	M	0.67953	2.075	0.33814	D	0.628257	D	0.65815	0.995	P	0.50570	0.644	T	0.35475	-0.9787	10	0.87932	D	0	-14.1554	18.6239	0.91331	0.0:0.0:1.0:0.0	.	86	Q9HBV2	SACA1_HUMAN	I	86	ENSP00000237201:V86I	ENSP00000237201:V86I	V	+	1	0	SPACA1	88820430	1.000000	0.71417	0.934000	0.37439	0.391000	0.30476	6.055000	0.71103	2.838000	0.97847	0.655000	0.94253	GTT		TCGA-IB-7651-01A-11D-2154-08	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1	1	0	1	32	148	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	32	145	0	34	2								-3.346261	1	1	121408	8	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
SPACA1	81833	broad.mit.edu	37	6	88768475	88768475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88768475G>A	ENST00000237201.1	+	4	526	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1			20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)			TGTTAGATTGGCATGTATTCA	0.333000																								0							SO:0001583	missense			ENST00000237201.1	1	1	hg19	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793520	0.31685	.	.	ENSG00000118434	ENST00000237201	T	0.23950	1.88	5.86	1.49	0.22878	.	0.672852	0.14875	N	0.293339	T	0.05227	0.0139	N	0.25647	0.755	0.09310	N	1	B	0.24823	0.112	B	0.27380	0.079	T	0.36065	-0.9763	10	0.28530	T	0.3	-3.0372	4.0794	0.09919	0.0749:0.342:0.3269:0.2563	.	137	Q9HBV2	SACA1_HUMAN	T	137	ENSP00000237201:A137T	ENSP00000237201:A137T	A	+	1	0	SPACA1	88825194	0.001000	0.12720	0.040000	0.18447	0.769000	0.43574	0.001000	0.13038	0.760000	0.33108	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1	1	0	1	47	224	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	45	220	0	58	2								-20.000000	1	1	121406	3	32	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNR1	1268	broad.mit.edu	37	6	88853707	88853707	+	Silent	SNP	C	C	T	rs149238893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88853707C>T	ENST00000537554.1	-	2	4849	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CNR1_ENST00000535130.1_Silent_p.S429S|CNR1_ENST00000549890.1_Silent_p.S429S|CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000468898.1_Silent_p.S396S|CNR1_ENST00000549716.1_Silent_p.S368S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)			37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCAGGCAGTCCGAGTCCCCCA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000537554.1	0	1	hg19	CCDS5015.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2	0	0	0	13	807	0	193	0	3.104185e-04	0	2	0	193	2		0	0	0	0	0	2	1	9.994792e-01	13	794	0	193	2								-1.945813	0	1	121412	29	49	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.180000	0.100000	0.300000	0.180000	0.196723	0.180000	0	1.300000e-01	2.500000e-01
PNRC1	10957	broad.mit.edu	37	6	89790706	89790706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89790706C>T	ENST00000336032.3	+	1	210	c.93C>T	c.(91-93)gcC>gcT	p.A31A	PNRC1_ENST00000369472.1_Intron|RP11-63L7.5_ENST00000606729.1_RNA|PNRC1_ENST00000354922.3_5'Flank	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1			6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)			ACTTTGGGGCCCTCCCGATGG	0.677000										Multiple Myeloma(7;0.094)														0							SO:0001819	synonymous_variant			ENST00000336032.3	1	1	hg19	CCDS5018.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	1	0	1	66	291	0	51	1	1	56	309	0	51	2		0	0	0	0	0	2	1	1	65	285	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBE2J1	51465	broad.mit.edu	37	6	90053428	90053428	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90053428C>A	ENST00000435041.2	-	2	357	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1			18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)			TGGTAATGATCTGTTGGATCT	0.269000																								0							SO:0001583	missense			ENST00000435041.2	1	1	hg19	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843161	0.71488	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.46451	0.87	5.4	5.4	0.78164	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.042805	0.85682	D	0.000000	T	0.24586	0.0596	N	0.25286	0.73	0.80722	D	1	B	0.33777	0.425	B	0.36289	0.221	T	0.12066	-1.0562	10	0.54805	T	0.06	.	19.5511	0.95322	0.0:1.0:0.0:0.0	.	27	Q9Y385	UB2J1_HUMAN	Y	27;12	ENSP00000451261:D27Y	ENSP00000354684:D27Y	D	-	1	0	UBE2J1	90110147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.423000	0.73361	2.704000	0.92352	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	1	0	1	35	127	0	34	1	1	49	178	0	34	2		0	0	0	0	0	2	1	1	35	127	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RRAGD	58528	broad.mit.edu	37	6	90097100	90097100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90097100C>A	ENST00000369415.4	-	2	634	c.358G>T	c.(358-360)Gga>Tga	p.G120*	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D			15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)			TCAATCTGTCCTGGGAAGTCC	0.433000																								0							SO:0001587	stop_gained			ENST00000369415.4	0	1	hg19	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	C	39	7.577906	0.98368	.	.	ENSG00000025039	ENST00000369415	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4848	19.3349	0.94312	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000358423:G120X	G	-	1	0	RRAGD	90153819	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	7.487000	0.81328	2.583000	0.87209	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	1	0	1	153	697	0	182	1	1	2	119	0	182	2		0	0	0	0	0	2	1	1	149	688	0	181	2								-3.176479	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDN1	23195	broad.mit.edu	37	6	90390433	90390433	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90390433G>T	ENST00000369393.3	-	74	12255	c.12140C>A	c.(12139-12141)tCc>tAc	p.S4047Y	MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			TTCCAAGCCGGAAGGAGCAGC	0.572000																								0							SO:0001583	missense			ENST00000369393.3	1	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	5.332	0.246517	0.10130	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	4.54	0.545	0.17190	.	0.979712	0.08407	N	0.950525	T	0.00637	0.0021	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	10	0.02654	T	1	.	3.1593	0.06515	0.5294:0.0:0.177:0.2936	.	4047	Q9NU22	MDN1_HUMAN	Y	4047	ENSP00000358400:S4047Y;ENSP00000413970:S4047Y	ENSP00000358400:S4047Y	S	-	2	0	MDN1	90447154	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	0.508000	0.22692	-0.085000	0.12573	-0.367000	0.07326	TCC		TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1	27	194	0	64	1	7.466425e-01	2	19	0	64	2		0	0	0	0	0	2	1	1	25	192	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.960000	1.000000	1.000000	0.997254	0.990000	1	9.900000e-01	1
MDN1	23195	broad.mit.edu	37	6	90402593	90402593	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90402593G>A	ENST00000369393.3	-	63	10271	c.10156C>T	c.(10156-10158)Ctg>Ttg	p.L3386L	MDN1_ENST00000428876.1_Silent_p.L3386L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			TCCTCTGACAGCCGCTTCCGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000369393.3	1	1	hg19	CCDS5024.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	0	23	254	0	64	0	5.664251e-01	1	21	0	64	2		0	0	0	0	0	2	1	9.999994e-01	23	248	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.960000	0.630000	1.000000	1.000000	0.913931	0.960000	1	7.800000e-01	1
MDN1	23195	broad.mit.edu	37	6	90406082	90406082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406082A>G	ENST00000369393.3	-	60	9495	c.9380T>C	c.(9379-9381)tTc>tCc	p.F3127S	MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			GGAATACCTGAATTCTGCTAC	0.498000																								0							SO:0001583	missense			ENST00000369393.3	1	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224206	0.58668	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03152	4.03;4.03	5.45	5.45	0.79879	.	0.118077	0.56097	D	0.000024	T	0.02230	0.0069	L	0.34521	1.04	0.52099	D	0.999941	D	0.54397	0.966	P	0.47299	0.543	T	0.63157	-0.6700	10	0.33141	T	0.24	.	11.2912	0.49252	0.8635:0.0:0.0:0.1365	.	3127	Q9NU22	MDN1_HUMAN	S	3127	ENSP00000358400:F3127S;ENSP00000413970:F3127S	ENSP00000358400:F3127S	F	-	2	0	MDN1	90462803	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.748000	0.74877	2.067000	0.61834	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1	47	166	0	46	1	8.932999e-01	3	13	0	46	2		0	0	0	0	0	2	1	1	46	165	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDN1	23195	broad.mit.edu	37	6	90406269	90406269	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406269T>C	ENST00000369393.3	-	60	9308	c.9193A>G	c.(9193-9195)Ata>Gta	p.I3065V	MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			TTAGAGAATATGGGTCTATTG	0.473000																								0							SO:0001583	missense			ENST00000369393.3	1	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254333	0.22965	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.01871	4.59;4.59	5.65	-4.13	0.03904	.	1.145840	0.06519	N	0.739389	T	0.00271	0.0008	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	10	0.02654	T	1	.	9.2067	0.37293	0.0:0.6208:0.1122:0.267	.	3065	Q9NU22	MDN1_HUMAN	V	3065	ENSP00000358400:I3065V;ENSP00000413970:I3065V	ENSP00000358400:I3065V	I	-	1	0	MDN1	90462990	0.020000	0.18652	0.050000	0.19076	0.927000	0.56198	0.307000	0.19296	-0.669000	0.05289	-0.290000	0.09829	ATA		TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1	34	200	0	39	1	7.312085e-01	4	13	0	39	2		0	0	0	0	0	2	1	1	33	194	0	39	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999897	0.990000	1	9.900000e-01	1
MDN1	23195	broad.mit.edu	37	6	90411377	90411377	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90411377G>T	ENST00000369393.3	-	55	8442	c.8327C>A	c.(8326-8328)aCt>aAt	p.T2776N	MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			TTCTGAGACAGTCTGAACTTC	0.423000																								0							SO:0001583	missense			ENST00000369393.3	1	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193207	0.38707	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03212	4.01;4.01	5.69	4.82	0.62117	.	0.472428	0.22787	N	0.055659	T	0.01320	0.0043	N	0.24115	0.695	0.34143	D	0.6666	P	0.34462	0.454	B	0.29785	0.107	T	0.55347	-0.8155	10	0.37606	T	0.19	.	15.042	0.71799	0.0692:0.0:0.9308:0.0	.	2776	Q9NU22	MDN1_HUMAN	N	2776	ENSP00000358400:T2776N;ENSP00000413970:T2776N	ENSP00000358400:T2776N	T	-	2	0	MDN1	90468098	1.000000	0.71417	0.534000	0.28014	0.945000	0.59286	7.045000	0.76585	1.379000	0.46325	0.585000	0.79938	ACT		TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1	44	215	0	43	1	7.134951e-01	2	12	0	43	2		0	0	0	0	0	2	1	1	44	211	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MDN1	23195	broad.mit.edu	37	6	90417165	90417165	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90417165C>T	ENST00000369393.3	-	52	8044	c.7929G>A	c.(7927-7929)cgG>cgA	p.R2643R	MDN1_ENST00000428876.1_Silent_p.R2643R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			CAGTAAAAACCCGTTTTTCCC	0.338000																								0							SO:0001819	synonymous_variant			ENST00000369393.3	1	1	hg19	CCDS5024.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	0	28	256	0	58	1	6.073736e-01	5	15	0	58	2		0	0	0	0	0	2	1	1	27	251	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.780000	1.000000	1.000000	0.977109	0.990000	1	9.400000e-01	1
MDN1	23195	broad.mit.edu	37	6	90455062	90455062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90455062G>A	ENST00000369393.3	-	29	4223	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			GCGAGTCTCCGCATGCCCTCA	0.453000																								0							SO:0001583	missense			ENST00000369393.3	1	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052747	0.55218	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.45276	0.9;0.9	5.87	4.0	0.46444	.	0.106693	0.64402	D	0.000008	T	0.58509	0.2127	M	0.88979	2.995	0.50313	D	0.999868	D	0.60575	0.988	P	0.62560	0.904	T	0.68773	-0.5320	10	0.59425	D	0.04	.	14.2802	0.66205	0.0:0.0:0.5168:0.4832	.	1370	Q9NU22	MDN1_HUMAN	W	1370	ENSP00000358400:R1370W;ENSP00000413970:R1370W	ENSP00000358400:R1370W	R	-	1	2	MDN1	90511783	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.944000	0.29043	1.456000	0.47831	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1	85	365	0	92	1	6.928817e-01	2	10	0	92	2		0	0	0	0	0	2	1	1	85	360	0	91	2								-3.168267	1	1	121410	1	35	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDN1	23195	broad.mit.edu	37	6	90463282	90463282	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463282C>A	ENST00000369393.3	-	22	3139	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			GACAGATGAGCTTCTGAACTA	0.378000																								0							SO:0001583	missense			ENST00000369393.3	1	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566399	0.27915	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19250	3.92;3.92;2.16	5.91	-0.626	0.11544	.	0.054527	0.64402	D	0.000001	T	0.05593	0.0147	L	0.45698	1.435	0.45183	D	0.998198	B;B	0.24533	0.105;0.013	B;B	0.19391	0.025;0.016	T	0.18555	-1.0333	10	0.23302	T	0.38	.	6.1607	0.20362	0.1198:0.5202:0.0:0.36	.	935;1008	Q5T795;Q9NU22	.;MDN1_HUMAN	N	1008;1008;935	ENSP00000358400:K1008N;ENSP00000413970:K1008N;ENSP00000409664:K935N	ENSP00000358400:K1008N	K	-	3	2	MDN1	90520003	0.996000	0.38824	0.999000	0.59377	0.940000	0.58332	0.386000	0.20702	0.127000	0.18452	-0.140000	0.14226	AAG		TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1	82	385	0	92	0	3.589866e-01	0	7	0	92	2		0	0	0	0	0	2	1	1	79	383	0	92	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDN1	23195	broad.mit.edu	37	6	90494754	90494754	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90494754G>A	ENST00000369393.3	-	9	1541	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	MDN1_ENST00000428876.1_Silent_p.L476L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			CTCTTATCCAGGTTATCCAGG	0.438000																								0							SO:0001819	synonymous_variant			ENST00000369393.3	0	1	hg19	CCDS5024.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	0	13	940	0	190	0	1.358638e-02	0	12	0	190	2		0	0	0	0	0	2	1	9.994910e-01	13	929	0	190	2								-2.231001	0	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.160000	0.080000	0.260000	0.160000	0.169479	0.160000	0	1.100000e-01	2.100000e-01
MDN1	23195	broad.mit.edu	37	6	90504402	90504402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90504402C>A	ENST00000369393.3	-	3	563	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			AAGGCTGCTTCCATTAGGTCC	0.522000																								0							SO:0001587	stop_gained			ENST00000369393.3	0	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500931	0.97616	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.23	5.23	0.72850	.	0.061948	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.172	0.93581	0.0:1.0:0.0:0.0	.	.	.	.	X	150	.	ENSP00000358400:E150X	E	-	1	0	MDN1	90561123	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.614000	0.88457	0.557000	0.71058	GAA		TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	1	0	1	69	265	0	66	1	6.451187e-01	3	7	0	66	2		0	0	0	0	0	2	1	1	69	259	0	66	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MDN1	23195	broad.mit.edu	37	6	90513085	90513085	+	Silent	SNP	C	C	T	rs143953044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90513085C>T	ENST00000369393.3	-	2	406	c.291G>A	c.(289-291)tcG>tcA	p.S97S	MDN1_ENST00000428876.1_Silent_p.S97S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			GTTTGCTCATCGACACACATA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000369393.3	1	1	hg19	CCDS5024.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	1	124	632	1	178	0	1.928703e-01	1	4	1	178	2		0	0	0	0	0	2	1	1	118	618	1	177	15								-3.321545	1	1	121412	14	51	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP8AP2	9994	broad.mit.edu	37	6	90573238	90573238	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90573238G>A	ENST00000551025.1	+	0	3247									caspase 8 associated protein 2			51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)			TAAAACAGTGGCATATGTTCC	0.423000													Colon(187;1656 2025 17045 31481 39901)											0											ENST00000551025.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	10	42	0	12	1	8.883680e-01	7	12	0	12	2		0	0	0	0	0	2	1	9.970379e-01	10	39	0	12	2								-19.499610	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.980000	1.000000	1.000000	0.996934	0.990000	1	9.900000e-01	1
CASP8AP2	9994	broad.mit.edu	37	6	90576760	90576760	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90576760G>T	ENST00000551025.1	+	0	5188									caspase 8 associated protein 2			51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)			TCAATCCGAAGAGCGCTCCTT	0.378000													Colon(187;1656 2025 17045 31481 39901)											0											ENST00000551025.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	43	189	1	53	1	9.011235e-01	7	28	1	53	4		0	0	0	0	0	2	1	9.999739e-01	41	186	1	53	15								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP8AP2	9994	broad.mit.edu	37	6	90578293	90578293	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578293T>C	ENST00000551025.1	+	0	6721									caspase 8 associated protein 2			51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)			TGTGGAAGACTTGGGATGTGG	0.403000													Colon(187;1656 2025 17045 31481 39901)											0											ENST00000551025.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	35	122	0	36	1	9.990408e-01	13	28	0	36	2		0	0	0	0	0	2	1	1	34	120	0	36	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BACH2	60468	broad.mit.edu	37	6	90647962	90647962	+	Silent	SNP	A	A	G	rs151085282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90647962A>G	ENST00000257749.4	-	8	2651	c.1944T>C	c.(1942-1944)caT>caC	p.H648H	BACH2_ENST00000537989.1_Silent_p.H648H|BACH2_ENST00000343122.3_Silent_p.H648H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2			45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)			GTCGGACATCATGAATAAACT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000257749.4	1	1	hg19	CCDS5026.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	1	0	1	97	389	0	68	0	1.826824e-01	0	4	0	68	2		0	0	0	0	0	2	1	1	96	383	0	68	2								-20.000000	1	1	121412	6	42	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K7	6885	broad.mit.edu	37	6	91254333	91254333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:91254333C>T	ENST00000369329.3	-	12	1390	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7			28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)			ACGGTGGCCCCGTTTAGGCTT	0.408000																								0							SO:0001583	missense			ENST00000369329.3	1	1	hg19	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957146	0.73902	.	.	ENSG00000135341	ENST00000369329;ENST00000369325	T;T	0.76316	-0.98;-1.01	5.47	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.03608	-0.345	0.80722	D	1	B;D	0.64830	0.401;0.994	B;P	0.61201	0.02;0.885	T	0.63554	-0.6611	10	0.09338	T	0.73	.	16.2921	0.82757	0.0:0.8672:0.1328:0.0	.	410;410	O43318-3;O43318	.;M3K7_HUMAN	Q	410	ENSP00000358335:R410Q;ENSP00000358331:R410Q	ENSP00000358331:R410Q	R	-	2	0	MAP3K7	91311054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.646000	0.61411	1.302000	0.44855	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	0	0	0	13	311	0	56	0	5.279179e-01	0	42	0	56	2		0	0	0	0	0	2	1	9.994591e-01	13	301	0	56	2								-2.275643	0	1	121408	2	34	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.470000	0.260000	0.750000	0.460000	0.491121	0.470000	0	3.500000e-01	6.100000e-01
EPHA7	2045	broad.mit.edu	37	6	93967929	93967929	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:93967929G>A	ENST00000369303.4	-	11	2182	c.1998C>T	c.(1996-1998)acC>acT	p.T666T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7			112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)			CAACTTTCAGGGTTTTTATGG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000369303.4	1	1	hg19	CCDS5031.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1	1	0	1	132	511	0	101	0	0	0	1	0	101	2		0	0	0	0	0	2	1	1	130	497	0	93	2								-3.009414	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA7	2045	broad.mit.edu	37	6	94124474	94124474	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:94124474C>T	ENST00000369303.4	-	2	293	c.109G>A	c.(109-111)Gat>Aat	p.D37N	EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7			112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)			GCTTTAGAATCCAGCAGTAGT	0.318000																								0							SO:0001583	missense			ENST00000369303.4	1	1	hg19	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578356	0.65878	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.12879	2.64;2.64	5.67	5.67	0.87782	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.100727	0.64402	D	0.000006	T	0.11965	0.0291	L	0.47716	1.5	0.80722	D	1	B;B;P;P	0.39443	0.008;0.078;0.623;0.674	B;B;B;B	0.42827	0.007;0.055;0.278;0.399	T	0.01030	-1.1475	10	0.72032	D	0.01	.	17.5467	0.87864	0.0:1.0:0.0:0.0	.	37;37;37;37	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	37	ENSP00000358309:D37N;ENSP00000358303:D37N	ENSP00000358303:D37N	D	-	1	0	EPHA7	94181195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.691000	0.68249	2.672000	0.90937	0.555000	0.69702	GAT		TCGA-IB-7651-01A-11D-2154-08	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1	1	0	1	20	152	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	9.999959e-01	20	148	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.850000	1.000000	1.000000	0.990969	0.990000	1	9.900000e-01	1
KLHL32	114792	broad.mit.edu	37	6	97562152	97562152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97562152G>A	ENST00000369261.4	+	7	1484	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H|KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	p.R374H(1)		38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)			TATGACCCCCGCAGTAATTCC	0.567000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369261.4	1	1	hg19	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279969	0.95489	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.67865	-0.29;-0.29;-0.29	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.995;0.999	T	0.70920	-0.4741	10	0.34782	T	0.22	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	305;338;374;374	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	H	374;338;305	ENSP00000358265:R374H;ENSP00000440382:R338H;ENSP00000441527:R305H	ENSP00000358265:R374H	R	+	2	0	KLHL32	97668873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.763000	0.94921	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	1	0	1	32	170	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	32	164	0	53	2								-17.734300	1	1	121412	2	29	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
KLHL32	114792	broad.mit.edu	37	6	97578726	97578726	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97578726G>A	ENST00000369261.4	+	9	1870	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N|KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N|KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32			38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)			TGGAGGCAATGACCTAGACTA	0.453000																								0							SO:0001583	missense			ENST00000369261.4	1	1	hg19	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106944	0.77096	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.96	4.96	0.65561	Kelch-type beta propeller (1);	0.049990	0.85682	N	0.000000	T	0.68988	0.3061	L	0.37750	1.13	0.80722	D	1	B;B;B;P	0.42620	0.001;0.22;0.0;0.785	B;B;B;P	0.44946	0.008;0.19;0.012;0.465	T	0.74200	-0.3742	10	0.59425	D	0.04	.	18.4056	0.90535	0.0:0.0:1.0:0.0	.	434;467;503;59	B7Z4E2;B7Z346;Q96NJ5;Q8IXH0	.;.;KLH32_HUMAN;.	N	503;467;59;434	ENSP00000358265:D503N;ENSP00000440382:D467N;ENSP00000445453:D59N;ENSP00000441527:D434N	ENSP00000358265:D503N	D	+	1	0	KLHL32	97685447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.238000	0.95380	2.576000	0.86940	0.609000	0.83330	GAC		TCGA-IB-7651-01A-11D-2154-08	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	1	0	0	49	524	0	121	0	0	0	1	0	121	2		0	0	0	0	0	2	1	1	49	517	0	121	2								-3.221883	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.980000	0.740000	1.000000	1.000000	0.946967	0.980000	1	8.600000e-01	1
POU3F2	5454	broad.mit.edu	37	6	99283976	99283976	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99283976G>T	ENST00000328345.5	+	1	1397	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2			10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)			GACAGAAAGAGAAAAGGATGA	0.627000																								0							SO:0001583	missense			ENST00000328345.5	1	1	hg19	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727850	0.69074	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.96522	-4.04	4.51	4.51	0.55191	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	U	0.000003	D	0.96191	0.8758	L	0.58925	1.835	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	D	0.96662	0.9490	10	0.87932	D	0	.	16.1405	0.81519	0.0:0.0:1.0:0.0	.	409	P20265	PO3F2_HUMAN	D	409;342	ENSP00000329170:E409D	ENSP00000329170:E409D	E	+	3	2	POU3F2	99390697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.519000	0.67074	2.330000	0.79161	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2	1	0	1	76	414	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1	75	411	0	70	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXL4	26235	broad.mit.edu	37	6	99347219	99347219	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347219T>C	ENST00000369244.2	-	7	1670	c.1242A>G	c.(1240-1242)ctA>ctG	p.L414L	FBXL4_ENST00000229971.1_Silent_p.L414L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4			18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)			CTTGAGGTGGTAGCTTATCAC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000369244.2	1	1	hg19	CCDS5041.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2	1	0	1	110	510	0	121	1	9.999792e-01	23	50	0	121	2		0	0	0	0	0	2	1	1	109	500	0	120	2								-20.000000	1	0	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXL4	26235	broad.mit.edu	37	6	99374837	99374837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99374837C>T	ENST00000369244.2	-	4	456	c.28G>A	c.(28-30)Gtt>Att	p.V10I	FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4			18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)			ATGGTCAGAACTGTTAACATG	0.428000																								0							SO:0001583	missense			ENST00000369244.2	1	1	hg19	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092630	0.56075	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.15017	2.46;2.46	5.52	4.66	0.58398	.	0.057782	0.64402	D	0.000001	T	0.09555	0.0235	L	0.51422	1.61	0.47547	D	0.999454	B	0.34372	0.451	B	0.31869	0.137	T	0.03354	-1.1045	10	0.66056	D	0.02	.	14.7707	0.69675	0.0:0.9303:0.0:0.0697	.	10	Q9UKA2	FBXL4_HUMAN	I	10	ENSP00000358247:V10I;ENSP00000229971:V10I	ENSP00000229971:V10I	V	-	1	0	FBXL4	99481558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.935000	0.56560	1.474000	0.48178	0.650000	0.86243	GTT		TCGA-IB-7651-01A-11D-2154-08	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2	0	0	0	18	555	0	107	0	3.562529e-01	0	38	0	107	2		0	0	0	0	0	2	1	9.999788e-01	18	544	0	105	2								-15.907210	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.360000	0.220000	0.550000	0.360000	0.380607	0.360000	0	2.900000e-01	4.600000e-01
USP45	85015	broad.mit.edu	37	6	99883713	99883713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99883713G>A	ENST00000327681.6	-	18	2856	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000369233.2_Missense_Mutation_p.A727V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45			22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)			ATTATCAGCCGCTTTCAAACC	0.368000																								0							SO:0001583	missense			ENST00000327681.6	1	1	hg19	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743813	0.30865	4.54E-4	1.16E-4	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.43688	2.21;3.69;3.69;0.94;3.69	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.109289	0.64402	D	0.000008	T	0.13243	0.0321	N	0.19112	0.55	0.80722	D	1	B;B	0.32939	0.275;0.391	B;B	0.32465	0.146;0.031	T	0.05784	-1.0864	10	0.52906	T	0.07	.	7.6188	0.28173	0.0:0.0704:0.1431:0.7865	.	775;455	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	V	455;775;775;68;727	ENSP00000376495:A455V;ENSP00000424372:A775V;ENSP00000333376:A775V;ENSP00000439569:A68V;ENSP00000358236:A727V	ENSP00000333376:A775V	A	-	2	0	USP45	99990434	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	4.699000	0.61796	0.970000	0.38263	-0.264000	0.10439	GCG		TCGA-IB-7651-01A-11D-2154-08	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	1	0	1	76	295	0	71	1	6.925085e-01	2	9	0	71	2		0	0	0	0	0	2	1	1	74	291	0	71	2								-20.000000	1	1	121412	8	42	1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP45	85015	broad.mit.edu	37	6	99893884	99893884	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99893884A>G	ENST00000327681.6	-	14	2296	c.1764T>C	c.(1762-1764)tgT>tgC	p.C588C	USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000369233.2_Silent_p.C540C|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45			22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)			CCTCTAAAAAACATAAATTAT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000327681.6	1	1	hg19	CCDS34501.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	1	0	1	67	228	0	45	0	2.276028e-01	0	4	0	45	2		0	0	0	0	0	2	1	1	67	226	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCWPW1	55063	broad.mit.edu	37	7	100006173	100006173	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006173G>A	ENST00000398027.2	-	10	1225	c.978C>T	c.(976-978)taC>taT	p.Y326Y	ZCWPW1_ENST00000490721.1_Silent_p.Y206Y|ZCWPW1_ENST00000360951.4_Silent_p.Y327Y|ZCWPW1_ENST00000324725.6_Silent_p.Y206Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1			16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				AGGGGTAACCGTATTGCTTGG	0.498000																								0							SO:0001819	synonymous_variant			ENST00000398027.2	1	1	hg19	CCDS43623.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	1	0	1	92	423	0	119	1	7.767599e-01	2	13	0	119	2		0	0	0	0	0	2	1	1	92	418	0	118	2								-20.000000	1	0	120924	1	33	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCWPW1	55063	broad.mit.edu	37	7	100006218	100006218	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006218G>T	ENST00000398027.2	-	10	1180	c.933C>A	c.(931-933)gcC>gcA	p.A311A	ZCWPW1_ENST00000490721.1_Silent_p.A191A|ZCWPW1_ENST00000360951.4_Silent_p.A312A|ZCWPW1_ENST00000324725.6_Silent_p.A191A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1			16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				AGGAGGCATAGGCCACATCAC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000398027.2	1	1	hg19	CCDS43623.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	0	0	1	104	367	1	113	1	7.788145e-01	4	8	1	113	2		0	0	0	0	0	2	1	1	104	362	1	112	15								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCWPW1	55063	broad.mit.edu	37	7	100014052	100014052	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100014052A>C	ENST00000398027.2	-	7	754	c.507T>G	c.(505-507)atT>atG	p.I169M	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I48M|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1			16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				AAGACACTGAAATCTCTTGAG	0.418000																								0							SO:0001583	missense			ENST00000398027.2	1	1	hg19	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	A	7.804	0.714256	0.15306	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.56776	0.45;0.53;0.44;0.53	5.23	1.29	0.21616	.	0.774317	0.11398	N	0.568126	T	0.28830	0.0715	N	0.24115	0.695	0.09310	N	1	P;P;B;P;P	0.37441	0.506;0.595;0.264;0.595;0.525	B;B;B;B;B	0.33454	0.074;0.123;0.044;0.123;0.164	T	0.11012	-1.0605	9	.	.	.	-0.4614	1.3621	0.02194	0.5315:0.189:0.0982:0.1812	.	169;129;170;169;48	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	M	169;48;169;48;170	ENSP00000381109:I169M;ENSP00000419187:I48M;ENSP00000354210:I169M;ENSP00000314880:I48M	.	I	-	3	3	ZCWPW1	99851988	0.355000	0.24921	0.957000	0.39632	0.211000	0.24417	0.340000	0.19892	0.873000	0.35799	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	1	0	1	90	342	0	79	1	2.830298e-01	2	3	0	79	2		0	0	0	0	0	2	1	1	88	339	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCWPW1	55063	broad.mit.edu	37	7	100017440	100017440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100017440C>T	ENST00000398027.2	-	4	342	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1			16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				GTTAGGGCTACAAGGTAACAG	0.468000																								0							SO:0001583	missense			ENST00000398027.2	1	1	hg19	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.889789	0.00060	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.42131	1.0;0.98	4.94	-9.88	0.00467	.	2.370910	0.01566	N	0.020351	T	0.15609	0.0376	N	0.05078	-0.115	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.15037	-1.0451	9	.	.	.	13.2462	2.6278	0.04934	0.1665:0.3516:0.0936:0.3882	.	32;32;32;32	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	Y	32	ENSP00000381109:C32Y;ENSP00000354210:C32Y	.	C	-	2	0	ZCWPW1	99855376	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.939000	0.00684	-2.733000	0.00383	-0.824000	0.03097	TGT		TCGA-IB-7651-01A-11D-2154-08	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	1	0	0	28	421	0	82	1	1.335323e-01	2	8	0	82	2		0	0	0	0	0	2	1	1	28	416	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.750000	0.500000	1.000000	1.000000	0.764086	0.750000	0	6.100000e-01	9.200000e-01
MEPCE	56257	broad.mit.edu	37	7	100029193	100029193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100029193C>T	ENST00000310512.2	+	1	1940	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme			24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				CACCACCGTTCGAAAGAGGAG	0.632000																								0							SO:0001587	stop_gained			ENST00000310512.2	0	1	hg19	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	49	15.828728	0.99846	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	.	.	.	5.48	2.6	0.31112	.	0.763190	0.12193	N	0.490961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0106	11.4875	0.50363	0.4749:0.5251:0.0:0.0	.	.	.	.	X	49;49;518	.	ENSP00000308546:R518X	R	+	1	2	MEPCE	99867129	0.000000	0.05858	0.033000	0.17914	0.786000	0.44442	0.673000	0.25203	0.246000	0.21394	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1	1	0	1	45	218	0	51	1	1	11	125	0	51	2		0	0	0	0	0	2	1	1	44	216	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C7orf61	402573	broad.mit.edu	37	7	100060989	100060989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100060989C>T	ENST00000332375.3	-	2	629	c.384G>A	c.(382-384)tgG>tgA	p.W128*	RN7SL161P_ENST00000582642.1_RNA|TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61			4					TGCTGACCTTCCAGCTGCACA	0.592000																								0							SO:0001587	stop_gained			ENST00000332375.3	0	1	hg19	CCDS47661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.496895|2.496895	0.44352|0.44352	.|.	.|.	ENSG00000185955|ENSG00000185955	ENST00000418952|ENST00000332375	.|.	.|.	.|.	4.02|4.02	3.14|3.14	0.36123|0.36123	.|.	.|0.000000	.|0.37715	.|N	.|0.001969	T|.	0.27489|.	0.0675|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15122|.	-1.0448|.	4|.	.|0.02654	.|T	.|1	-0.0079|-0.0079	7.6939|7.6939	0.28583|0.28583	0.0:0.8864:0.0:0.1136|0.0:0.8864:0.0:0.1136	.|.	.|.	.|.	.|.	K|X	170|128	.|.	.|ENSP00000327732:W128X	E|W	-|-	1|3	0|0	C7orf61|C7orf61	99898925|99898925	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	3.018000|3.018000	0.49625|0.49625	1.292000|1.292000	0.44672|0.44672	0.561000|0.561000	0.74099|0.74099	GAA|TGG		TCGA-IB-7651-01A-11D-2154-08	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316976.2	1	0	1	107	397	0	86	0	0	0	1	0	86	2		0	0	0	0	0	2	1	1	105	385	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGFG2	3268	broad.mit.edu	37	7	100161557	100161557	+	Silent	SNP	G	G	A	rs35771030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100161557G>A	ENST00000300176.4	+	10	1394	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2			21					TGTTCCCCCCGCAGACCCCGC	0.602000											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000300176.4	1	1	hg19	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300818	0.01364	4.54E-4	9.3E-4	ENSG00000106351	ENST00000429987	.	.	.	4.34	-2.18	0.07037	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.24692	N	0.993301	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-47.8848	8.5987	0.33732	0.6053:0.0:0.3947:0.0	rs35771030	.	.	.	H	166	.	.	R	+	2	0	AGFG2	99999493	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.375000	0.02563	-0.607000	0.05738	-1.188000	0.01700	CGC		TCGA-IB-7651-01A-11D-2154-08	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	1	0	1	126	499	0	111	1	1	63	140	0	111	2		0	0	0	0	0	2	1	1	123	487	0	108	2								-3.184900	1	1	121412	42	49	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRCH4	4034	broad.mit.edu	37	7	100174761	100174761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100174761G>A	ENST00000310300.6	-	12	1364	c.1312C>T	c.(1312-1314)Ctc>Ttc	p.L438F	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4			23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				ACAGCCCTGAGCCCTGGCTTC	0.632000																								0							SO:0001583	missense			ENST00000310300.6	1	1	hg19	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	g	8.842	0.942492	0.18281	.	.	ENSG00000077454	ENST00000310300	T	0.33865	1.39	4.39	-5.68	0.02436	.	2.169780	0.01807	N	0.033258	T	0.15435	0.0372	N	0.08118	0	0.09310	N	0.999997	P	0.34780	0.468	B	0.30646	0.118	T	0.10268	-1.0637	10	0.56958	D	0.05	0.0698	2.4963	0.04622	0.1237:0.1208:0.4011:0.3544	.	438	O75427	LRCH4_HUMAN	F	438	ENSP00000309689:L438F	ENSP00000309689:L438F	L	-	1	0	LRCH4	100012697	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.450000	0.06803	-1.113000	0.02981	-0.436000	0.05848	CTC		TCGA-IB-7651-01A-11D-2154-08	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	1	0	1	72	304	0	64	1	9.965960e-01	9	30	0	64	2		0	0	0	0	0	2	1	1	70	295	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO24	26261	broad.mit.edu	37	7	100187909	100187909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100187909G>A	ENST00000241071.6	+	3	573	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24			28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				CGCATCTGTCGCAGACTCAGT	0.592000																								0							SO:0001583	missense			ENST00000241071.6	1	1	hg19	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428216	0.43122	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.69	1.76	0.24704	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.348956	0.22613	N	0.057818	T	0.28532	0.0706	L	0.39467	1.215	0.30175	N	0.800905	B;B;B;B	0.17268	0.008;0.021;0.008;0.017	B;B;B;B	0.15484	0.008;0.013;0.008;0.004	T	0.14559	-1.0468	10	0.40728	T	0.16	-6.8099	4.832	0.13445	0.1951:0.0:0.6348:0.1701	.	72;122;84;84	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	107;84;84;84;89;72;122	ENSP00000419587:R107H;ENSP00000241071:R84H;ENSP00000353821:R84H;ENSP00000419602:R84H;ENSP00000417179:R89H;ENSP00000420239:R72H;ENSP00000416558:R122H	ENSP00000241071:R84H	R	+	2	0	FBXO24	100025845	0.604000	0.26932	0.998000	0.56505	0.943000	0.58893	0.030000	0.13688	0.175000	0.19841	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1	1	0	1	44	202	0	58	1	2.263122e-01	2	3	0	58	2		0	0	0	0	0	2	1	1	42	194	0	55	2								-19.999990	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO24	26261	broad.mit.edu	37	7	100189512	100189512	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100189512G>A	ENST00000241071.6	+	4	867	c.545G>A	c.(544-546)cGt>cAt	p.R182H	FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24			28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				GTGTTGTGTCGTGGAGCCAAG	0.552000																								0							SO:0001583	missense			ENST00000241071.6	1	1	hg19	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450584	0.63290	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T	0.50001	2.38;0.76;0.76;2.39;2.37	4.89	4.01	0.46588	.	0.099062	0.44902	D	0.000415	T	0.29556	0.0737	N	0.08118	0	0.33463	D	0.585146	P;D;P;D	0.57257	0.923;0.968;0.923;0.979	B;B;B;P	0.47786	0.247;0.354;0.247;0.557	T	0.35051	-0.9804	9	.	.	.	-10.6204	7.7322	0.28793	0.1875:0.0:0.8125:0.0	.	170;220;182;168	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	H	182;168;168;187;170;220	ENSP00000241071:R182H;ENSP00000353821:R168H;ENSP00000419602:R168H;ENSP00000420239:R170H;ENSP00000416558:R220H	.	R	+	2	0	FBXO24	100027448	0.998000	0.40836	0.852000	0.33557	0.784000	0.44337	3.124000	0.50461	1.296000	0.44742	0.558000	0.71614	CGT		TCGA-IB-7651-01A-11D-2154-08	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1	1	0	1	79	366	0	64	0	3.235858e-02	1	1	0	64	2		0	0	0	0	0	2	1	1	76	354	0	64	2								-2.978627	1	1	121412	2	38	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO24	26261	broad.mit.edu	37	7	100190416	100190416	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100190416A>G	ENST00000241071.6	+	5	891	c.569A>G	c.(568-570)gAc>gGc	p.D190G	FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24			28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				TTTGCCTCGGACCCAAGGTGT	0.577000																								0							SO:0001583	missense			ENST00000241071.6	1	1	hg19	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386392	0.82902	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.63255	1.45;-0.03;-0.03;1.46;1.41	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	T	0.67078	0.2855	N	0.19112	0.55	0.48830	D	0.999714	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	T	0.71764	-0.4494	10	0.72032	D	0.01	-27.7735	14.0457	0.64704	1.0:0.0:0.0:0.0	.	178;228;190;176	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	G	190;176;176;178;228	ENSP00000241071:D190G;ENSP00000353821:D176G;ENSP00000419602:D176G;ENSP00000420239:D178G;ENSP00000416558:D228G	ENSP00000241071:D190G	D	+	2	0	FBXO24	100028352	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.395000	0.66291	2.212000	0.71576	0.456000	0.33151	GAC		TCGA-IB-7651-01A-11D-2154-08	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1	1	0	1	32	138	0	36	0	0	1	0	0	36	2		0	0	0	0	0	2	1	1	32	134	0	36	2								-19.617600	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FBXO24	26261	broad.mit.edu	37	7	100198522	100198522	+	Nonstop_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100198522A>C	ENST00000241071.6	+	10	2065	c.1743A>C	c.(1741-1743)taA>taC	p.*581Y	FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24			28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				CTGAGACCTAATCCCCCTCAT	0.632000																								0							SO:0001578	stop_lost			ENST00000241071.6	0	1	hg19	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	a	3.521	-0.097685	0.07010	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2759	0.20981	0.8892:0.0:0.1108:0.0	.	.	.	.	Y	581;569;619	.	.	X	+	3	2	FBXO24	100036458	0.991000	0.36638	0.605000	0.28930	0.024000	0.10985	2.719000	0.47244	1.779000	0.52309	0.373000	0.22412	TAA		TCGA-IB-7651-01A-11D-2154-08	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1	0	0	0	20	408	0	64	0	7.180326e-03	0	3	0	64	2		0	0	0	0	0	2	1	9.999948e-01	19	403	0	64	2								-19.981130	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.560000	0.350000	1.000000	0.540000	0.595438	0.560000	0	4.500000e-01	7.200000e-01
PCOLCE	5118	broad.mit.edu	37	7	100201161	100201161	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201161G>A	ENST00000223061.5	+	2	484	c.204G>A	c.(202-204)acG>acA	p.T68T	PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer			23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				GGACCATAACGGTGAGAAACC	0.592000																								0							SO:0001630	splice_region_variant			ENST00000223061.5	0	1	hg19	CCDS5700.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	0	0	0	21	177	0	25	0	9.999976e-01	0	192	0	25	2		0	0	0	0	0	2	1	9.999980e-01	21	174	0	25	2								-3.221999	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.986005	0.990000	1	9.900000e-01	1
PCOLCE	5118	broad.mit.edu	37	7	100201642	100201642	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201642G>A	ENST00000223061.5	+	3	545	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer			23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				GCTGCACCCCGCCTGCCGCTA	0.672000																								0							SO:0001583	missense			ENST00000223061.5	1	0	hg19	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731645	0.30684	.	.	ENSG00000106333	ENST00000223061	T	0.18016	2.24	4.6	-4.01	0.04045	CUB (5);	1.202500	0.05722	N	0.597935	T	0.03827	0.0108	N	0.00926	-1.1	0.20403	N	0.999906	B;B	0.20459	0.011;0.045	B;B	0.17098	0.006;0.017	T	0.38394	-0.9663	10	0.02654	T	1	-8.2624	5.337	0.15963	0.2589:0.0:0.1869:0.5542	.	89;89	B4DPJ4;Q15113	.;PCOC1_HUMAN	T	89	ENSP00000223061:A89T	ENSP00000223061:A89T	A	+	1	0	PCOLCE	100039578	0.000000	0.05858	0.024000	0.17045	0.968000	0.65278	-0.651000	0.05372	-0.499000	0.06623	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	1	0	0	90	440	1	88	0	9.999994e-01	0	200	1	88	10		0	0	0	0	0	2	1	1	88	428	1	84	20								-0.816515	0	1	121410	12	42	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOSPD3	64598	broad.mit.edu	37	7	100210480	100210480	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210480G>A	ENST00000393950.2	+	1	348	c.66G>A	c.(64-66)cgG>cgA	p.R22R	MOSPD3_ENST00000223054.4_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R|MOSPD3_ENST00000424091.2_Silent_p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	p.R22R(1)		16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				gggggtcccggggcgccccTC	0.731000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000393950.2	1	1	hg19	CCDS5701.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	1	0	0	68	243	0	51	1	9.993503e-01	11	31	0	51	2		0	0	0	0	0	2	1	1	64	243	0	48	2								-3.936436	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOSPD3	64598	broad.mit.edu	37	7	100210841	100210841	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210841A>G	ENST00000393950.2	+	2	512	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3			16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				CCTGCCAAATACACGGTGTTT	0.582000																								0							SO:0001583	missense			ENST00000393950.2	1	1	hg19	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763357	0.69763	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	3.85	3.85	0.44370	PapD-like (2);	0.259259	0.26746	N	0.022719	D	0.82595	0.5071	L	0.61036	1.89	0.45216	D	0.998222	D;D	0.89917	1.0;0.983	D;P	0.87578	0.998;0.88	D	0.84133	0.0413	10	0.87932	D	0	-1.438	11.3049	0.49329	1.0:0.0:0.0:0.0	.	77;77	C9JE89;O75425	.;MSPD3_HUMAN	C	77;77;77;77;77;63	ENSP00000223054:Y77C;ENSP00000417276:Y77C;ENSP00000368842:Y77C;ENSP00000377522:Y77C;ENSP00000404626:Y77C	ENSP00000223054:Y77C	Y	+	2	0	MOSPD3	100048777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.788000	0.47806	1.994000	0.58287	0.374000	0.22700	TAC		TCGA-IB-7651-01A-11D-2154-08	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	1	0	1	199	778	0	200	1	1	33	62	0	200	2		0	0	0	0	0	2	1	1	193	759	0	197	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIGYF1	64599	broad.mit.edu	37	7	100284433	100284433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284433C>T	ENST00000275732.5	-	7	1742	c.533G>A	c.(532-534)gGc>gAc	p.G178D	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1			23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)				CTCCTCAAAGCCACATCGTGC	0.647000																								0							SO:0001583	missense			ENST00000275732.5	1	1	hg19	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	18.20	3.570442	0.65765	.	.	ENSG00000146830	ENST00000275732	D	0.84070	-1.8	4.96	4.06	0.47325	.	0.063561	0.64402	D	0.000008	D	0.84991	0.5595	M	0.65498	2.005	0.58432	D	0.999991	D	0.65815	0.995	P	0.53649	0.731	T	0.82372	-0.0490	10	0.19147	T	0.46	-22.4749	13.0391	0.58889	0.0:0.8368:0.1632:0.0	.	178	O75420	PERQ1_HUMAN	D	178	ENSP00000275732:G178D	ENSP00000275732:G178D	G	-	2	0	GIGYF1	100122369	0.148000	0.22702	0.996000	0.52242	0.870000	0.49936	1.120000	0.31271	1.288000	0.44600	0.563000	0.77884	GGC		TCGA-IB-7651-01A-11D-2154-08	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	1	0	1	56	280	0	56	1	9.498871e-01	7	20	0	56	2		0	0	0	0	0	2	1	1	55	275	0	55	2								-3.348664	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIGYF1	64599	broad.mit.edu	37	7	100284964	100284964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284964G>A	ENST00000275732.5	-	5	1648	c.439C>T	c.(439-441)Cga>Tga	p.R147*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1			23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)				CGGGGGCTTCGTCCAAAGGCC	0.652000																								0							SO:0001587	stop_gained			ENST00000275732.5	0	1	hg19	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	47	13.755068	0.99761	.	.	ENSG00000146830	ENST00000275732	.	.	.	5.21	2.19	0.27852	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0535	12.4892	0.55891	0.0:0.0:0.569:0.431	.	.	.	.	X	147	.	ENSP00000275732:R147X	R	-	1	2	GIGYF1	100122900	0.981000	0.34729	0.170000	0.22879	0.932000	0.56968	1.770000	0.38532	0.525000	0.28522	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	1	0	1	156	752	0	163	1	8.965344e-01	3	18	0	163	2		0	0	0	0	0	2	1	1	153	737	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPO	2056	broad.mit.edu	37	7	100320732	100320732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100320732G>T	ENST00000252723.2	+	5	739	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin			12	Lung NSC(181;0.041)|all_lung(186;0.0581)				ACACAGGGGAGGCCTGCAGGA	0.582000																								0							SO:0001583	missense			ENST00000252723.2	1	1	hg19	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546256	0.45383	.	.	ENSG00000130427	ENST00000252723	T	0.50548	0.74	5.27	4.37	0.52481	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.330168	0.29376	N	0.012328	T	0.47284	0.1437	L	0.52759	1.655	0.33214	D	0.553841	D;D	0.54601	0.967;0.967	P;P	0.48901	0.594;0.594	T	0.60485	-0.7254	10	0.46703	T	0.11	-12.7599	10.3495	0.43927	0.0957:0.0:0.9043:0.0	.	185;186	B7ZKK5;P01588	.;EPO_HUMAN	D	186	ENSP00000252723:E186D	ENSP00000252723:E186D	E	+	3	2	EPO	100158668	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	1.638000	0.37165	2.616000	0.88540	0.643000	0.83706	GAG		TCGA-IB-7651-01A-11D-2154-08	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	0	0	0	17	663	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	9.999588e-01	17	650	0	119	2								-3.149547	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.300000	0.180000	1.000000	0.290000	0.348647	0.300000	0	2.300000e-01	4.000000e-01
ZAN	7455	broad.mit.edu	37	7	100352880	100352880	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100352880C>T	ENST00000348028.3	+	0	3321				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)			139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)		GCTACGAATCCTGTGCTTGTC	0.567000																								0											ENST00000348028.3	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1	186	835	0	207		0	0	0	0	207	2		0	0	0	0	0	2	1	1	182	820	0	206	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZAN	7455	broad.mit.edu	37	7	100364868	100364868	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100364868C>T	ENST00000348028.3	+	0	5013				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)			139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)		TGCTCAGAGGCTGTAAGGTCA	0.607000																								0											ENST00000348028.3	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1	37	169	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	36	166	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZAN	7455	broad.mit.edu	37	7	100365518	100365518	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100365518G>A	ENST00000348028.3	+	0	5090				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)			139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)		ATAAGGCTCAGCAGCAACCTC	0.602000																								0											ENST00000348028.3	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	26.0	4.696617	0.88830	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.77	4.77	0.60923	von Willebrand factor, type D domain (3);	0.000000	0.51477	D	0.000082	T	0.76751	0.4031	M	0.84082	2.675	0.22754	N	0.998771	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69658	-0.5086	10	0.66056	D	0.02	.	13.9911	0.64367	0.0:0.0:1.0:0.0	.	1642;1642	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	1642;1642;1642;219	ENSP00000445943:S1642N;ENSP00000445091:S1642N;ENSP00000444427:S1642N;ENSP00000441117:S219N	ENSP00000423579:S1642N	S	+	2	0	ZAN	100203454	0.997000	0.39634	0.678000	0.29963	0.019000	0.09904	3.953000	0.56699	2.586000	0.87340	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1	46	200	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	44	196	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZAN	7455	broad.mit.edu	37	7	100369522	100369522	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100369522C>T	ENST00000348028.3	+	0	5469				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)			139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)		TTGCCAGTTGCGTGCATGGTC	0.657000																								0											ENST00000348028.3	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	1	46	195	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	45	192	0	41	2								-20.000000	1	1	121164	3	33	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZAN	7455	broad.mit.edu	37	7	100389759	100389759	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100389759G>T	ENST00000348028.3	+	0	7865				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)			139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)		TGGCCCCAGAGCCCTTCCAAG	0.667000																								0											ENST00000348028.3	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.12|13.12	2.141535|2.141535	0.37825|0.37825	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.76839|0.25579	-1.05;-1.05;-1.05|1.79	3.29|3.29	0.379|0.379	0.16213|0.16213	Uncharacterised domain, cysteine-rich (2);|.	0.499517|.	0.16268|.	N|.	0.221914|.	T|T	0.11024|0.11024	0.0269|0.0269	N|N	0.08118|0.08118	0|0	0.21386|0.21386	N|N	0.999706|0.999706	B;B|B	0.21071|0.32031	0.041;0.051|0.352	B;B|B	0.24394|0.30716	0.031;0.053|0.119	T|T	0.23226|0.23226	-1.0194|-1.0194	10|9	0.29301|0.87932	T|D	0.29|0	.|.	3.0222|3.0222	0.06079|0.06079	0.2412:0.0:0.5471:0.2117|0.2412:0.0:0.5471:0.2117	.|.	2566;2567|983	F5H0T8;Q9Y493|F5GX59	.;ZAN_HUMAN|.	D|I	2566|983	ENSP00000445943:E2566D;ENSP00000445091:E2566D;ENSP00000444427:E2566D|ENSP00000441117:S983I	ENSP00000445091:E2566D|ENSP00000423579:S2567I	E|S	+|+	3|2	2|0	ZAN|ZAN	100227695|100227695	0.323000|0.323000	0.24643|0.24643	0.951000|0.951000	0.38953|0.38953	0.986000|0.986000	0.74619|0.74619	-0.479000|-0.479000	0.06567|0.06567	0.067000|0.067000	0.16545|0.16545	0.556000|0.556000	0.70494|0.70494	GAG|AGC		TCGA-IB-7651-01A-11D-2154-08	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	0	14	94	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.998236e-01	14	94	0	15	2								-19.999180	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.890000	1.000000	1.000000	0.993709	0.990000	1	9.900000e-01	1
EPHB4	2050	broad.mit.edu	37	7	100404160	100404160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100404160G>A	ENST00000358173.3	-	14	2834	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	p.P789L(1)		47	Lung NSC(181;0.041)|all_lung(186;0.0581)				AATGGCCTCCGGGGCAGTCCA	0.577000													GBM(200;2113 3072 25865 52728)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000358173.3	1	1	hg19	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562661	0.86335	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.89810	-2.57;-2.57	4.68	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000105	D	0.94676	0.8283	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95512	0.8587	10	0.87932	D	0	.	15.0759	0.72077	0.0:0.0:1.0:0.0	.	789;789	Q96L35;P54760	.;EPHB4_HUMAN	L	789	ENSP00000353833:P789L;ENSP00000350896:P789L	ENSP00000350896:P789L	P	-	2	0	EPHB4	100242096	1.000000	0.71417	0.983000	0.44433	0.692000	0.40212	9.869000	0.99810	2.139000	0.66308	0.455000	0.32223	CCG		TCGA-IB-7651-01A-11D-2154-08	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	1	74	402	0	107	1	1	89	157	0	107	2		0	0	0	0	0	2	1	1	75	391	0	106	2								-2.693488	1	1	121412	1	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHB4	2050	broad.mit.edu	37	7	100420043	100420043	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420043C>T	ENST00000358173.3	-	4	1126	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4			47	Lung NSC(181;0.041)|all_lung(186;0.0581)				CAGCTACCGGCCACGGGCACA	0.662000													GBM(200;2113 3072 25865 52728)											0							SO:0001583	missense			ENST00000358173.3	1	1	hg19	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887613	0.33348	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73469	-0.75;-0.74	5.76	4.88	0.63580	.	0.000000	0.53938	D	0.000050	T	0.61751	0.2372	L	0.37850	1.14	0.30781	N	0.741949	B;B;P;P;P	0.40875	0.0;0.002;0.498;0.495;0.731	B;B;B;B;B	0.36464	0.0;0.001;0.115;0.169;0.225	T	0.67425	-0.5674	10	0.56958	D	0.05	.	8.5475	0.33430	0.0:0.7661:0.1522:0.0816	.	220;220;220;220;220	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	T	220	ENSP00000353833:A220T;ENSP00000350896:A220T	ENSP00000350896:A220T	A	-	1	0	EPHB4	100257979	0.998000	0.40836	0.973000	0.42090	0.006000	0.05464	2.879000	0.48522	1.432000	0.47375	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	1	15	51	0	14	1	9.999991e-01	48	58	0	14	2		0	0	0	0	0	2	1	9.999371e-01	15	51	0	14	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999910	0.990000	1	9.900000e-01	1
EPHB4	2050	broad.mit.edu	37	7	100420110	100420110	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420110G>A	ENST00000358173.3	-	4	1059	c.591C>T	c.(589-591)tgC>tgT	p.C197C	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Silent_p.C197C|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4			47	Lung NSC(181;0.041)|all_lung(186;0.0581)				TCAGCTGGGCGCACTTTTTGT	0.642000													GBM(200;2113 3072 25865 52728)											0							SO:0001819	synonymous_variant			ENST00000358173.3	1	1	hg19	CCDS5706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	1	28	116	0	34	1	1	46	105	0	34	2		0	0	0	0	0	2	1	1	28	114	0	34	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
EPHB4	2050	broad.mit.edu	37	7	100421510	100421510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100421510C>T	ENST00000358173.3	-	3	635	c.167G>A	c.(166-168)cGc>cAc	p.R56H	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4			47	Lung NSC(181;0.041)|all_lung(186;0.0581)				TTCGTAGGTGCGCACGCTGTG	0.687000													GBM(200;2113 3072 25865 52728)											0							SO:0001583	missense			ENST00000358173.3	0	1	hg19	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.261777	0.80358	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.12465	2.68;2.68	4.93	4.93	0.64822	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000108	T	0.29914	0.0748	L	0.46947	1.48	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.00849	-1.1541	10	0.28530	T	0.3	.	15.9831	0.80127	0.0:1.0:0.0:0.0	.	56;56;56;56;56	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	H	56	ENSP00000353833:R56H;ENSP00000350896:R56H	ENSP00000350896:R56H	R	-	2	0	EPHB4	100259446	1.000000	0.71417	0.990000	0.47175	0.804000	0.45430	7.763000	0.85283	2.452000	0.82932	0.556000	0.70494	CGC		TCGA-IB-7651-01A-11D-2154-08	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	1	13	88	0	10	1	9.891250e-01	24	31	0	10	2		0	0	0	0	0	2	1	9.996554e-01	13	88	0	10	2								-19.995390	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.992194	0.990000	1	9.900000e-01	1
TRIP6	7205	broad.mit.edu	37	7	100465482	100465482	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100465482G>T	ENST00000200457.4	+	2	469		c.e2-1			NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6			14	Lung NSC(181;0.041)|all_lung(186;0.0581)				CCTCAACCCAGCACTCCAGCC	0.632000																								0							SO:0001630	splice_region_variant			ENST00000200457.4	1	1	hg19	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236992	0.58886	.	.	ENSG00000087077	ENST00000200457	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6449	0.56729	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIP6	100303418	0.997000	0.39634	0.994000	0.49952	0.848000	0.48234	2.957000	0.49137	2.372000	0.80975	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	1	0	1	155	801	0	207	1	1.889178e-01	2	3	0	207	2		0	0	0	0	0	2	1	1	152	772	0	205	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIP6	7205	broad.mit.edu	37	7	100470363	100470363	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470363C>T	ENST00000200457.4	+	8	1656	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	SRRT_ENST00000388793.4_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000457580.2_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6			14	Lung NSC(181;0.041)|all_lung(186;0.0581)				GTTACAAGTGCGAGGTCAGGG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000200457.4	0	1	hg19	CCDS5708.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	0	0	0	12	318	0	55	0	9.997006e-01	1	388	0	55	2		0	0	0	0	0	2	1	9.989668e-01	11	309	0	55	2								-12.609330	1	1	121412	1	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.450000	0.240000	1.000000	0.430000	0.487072	0.450000	0	3.300000e-01	6.100000e-01
TRIP6	7205	broad.mit.edu	37	7	100470879	100470879	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470879C>A	ENST00000200457.4	+	9	1745	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	SRRT_ENST00000388793.4_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000457580.2_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6			14	Lung NSC(181;0.041)|all_lung(186;0.0581)				GCCTGCAGCGCCTGGCGCATC	0.577000																								0							SO:0001583	missense			ENST00000200457.4	1	1	hg19	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742577	0.89573	.	.	ENSG00000087077	ENST00000200457	T	0.60424	0.19	4.37	4.37	0.52481	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.74688	-0.3581	10	0.52906	T	0.07	.	14.4634	0.67467	0.0:1.0:0.0:0.0	.	462	Q15654	TRIP6_HUMAN	D	462	ENSP00000200457:A462D	ENSP00000200457:A462D	A	+	2	0	TRIP6	100308815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.709000	0.68384	2.268000	0.75426	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	1	0	1	74	414	0	93	1	1	209	197	0	93	2		0	0	0	0	0	2	1	1	73	403	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRRT	51593	broad.mit.edu	37	7	100482892	100482892	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482892C>T	ENST00000347433.4	+	10	1376	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	SRRT_ENST00000388793.4_Silent_p.D405D|SRRT_ENST00000432932.1_Silent_p.D405D|SRRT_ENST00000457580.2_Silent_p.D406D			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule			40					AGCCCAAGGACGCCGCGGGGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000347433.4	0	1	hg19	CCDS34709.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	0	0	0	13	686	0	105	1	8.244196e-01	9	161	0	105	2		0	0	0	0	0	2	1	9.994832e-01	13	675	0	104	2								-9.694450	1	0	121406	4	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.220000	0.120000	1.000000	0.220000	0.277429	0.220000	0	1.700000e-01	3.100000e-01
SRRT	51593	broad.mit.edu	37	7	100482962	100482962	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482962C>A	ENST00000347433.4	+	10	1446	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	SRRT_ENST00000388793.4_Missense_Mutation_p.P429T|SRRT_ENST00000432932.1_Missense_Mutation_p.P429T|SRRT_ENST00000457580.2_Missense_Mutation_p.P430T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule			40					CAACATCGCGCCCAACATCTC	0.642000																								0							SO:0001583	missense			ENST00000347433.4	1	1	hg19	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774444	0.90108	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.994	T	0.72134	-0.4382	10	0.72032	D	0.01	.	15.8215	0.78648	0.0:1.0:0.0:0.0	.	429;429;430;430	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	430;429;429;430;60	ENSP00000416553:P430T;ENSP00000373445:P429T;ENSP00000391852:P429T;ENSP00000314491:P430T	ENSP00000314491:P430T	P	+	1	0	SRRT	100320898	1.000000	0.71417	0.985000	0.45067	0.932000	0.56968	6.751000	0.74893	2.595000	0.87683	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	1	0	1	89	294	0	54	1	1	39	92	0	54	2		0	0	0	0	0	2	1	1	89	285	0	53	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACHE	43	broad.mit.edu	37	7	100488797	100488797	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100488797G>A	ENST00000412389.1	-	3	1871	c.1716C>T	c.(1714-1716)agC>agT	p.S572S	ACHE_ENST00000241069.5_Silent_p.S572S|ACHE_ENST00000411582.1_Silent_p.S572S|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000302913.4_Silent_p.S572S|ACHE_ENST00000419336.2_Silent_p.S484S			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)			16	Lung NSC(181;0.041)|all_lung(186;0.0581)			Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TACCGGTGGCGCTGAGCAATT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000412389.1	0	1	hg19	CCDS5709.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	0	0	0	19	88	0	15	1	9.999774e-01	44	47	0	15	2		0	0	0	0	0	2	1	9.999948e-01	19	87	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999861	0.990000	1	9.900000e-01	1
ACHE	43	broad.mit.edu	37	7	100490798	100490798	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100490798G>T	ENST00000412389.1	-	1	1211	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L	ACHE_ENST00000241069.5_Missense_Mutation_p.F352L|ACHE_ENST00000411582.1_Missense_Mutation_p.F352L|ACHE_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000302913.4_Missense_Mutation_p.F352L|ACHE_ENST00000419336.2_Missense_Mutation_p.F352L			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)			16	Lung NSC(181;0.041)|all_lung(186;0.0581)			Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GCAGGCCGTGGAAGTCTCCCG	0.617000																								0							SO:0001583	missense			ENST00000412389.1	0	1	hg19	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366739	0.24771	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.03	0.554	0.17241	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	L	0.52364	1.645	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.997;0.998	T	0.66810	-0.5829	10	0.41790	T	0.15	.	7.9551	0.30038	0.4145:0.0:0.5855:0.0	.	352;352;352;352	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	L	352	ENSP00000403474:F352L;ENSP00000241069:F352L;ENSP00000414858:F352L;ENSP00000303211:F352L;ENSP00000394976:F352L;ENSP00000397143:F352L;ENSP00000399725:F352L;ENSP00000404865:F352L	ENSP00000241069:F352L	F	-	3	2	ACHE	100328734	1.000000	0.71417	0.800000	0.32199	0.191000	0.23601	2.670000	0.46833	0.166000	0.19597	-0.439000	0.05793	TTC		TCGA-IB-7651-01A-11D-2154-08	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	0	0	0	11	142	0	26	1	9.999468e-01	47	209	0	26	2		0	0	0	0	0	2	1	9.984169e-01	11	140	0	26	2								-15.811110	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.880000	0.460000	1.000000	1.000000	0.843059	0.880000	1	6.400000e-01	1
ACHE	43	broad.mit.edu	37	7	100491402	100491402	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100491402C>A	ENST00000412389.1	-	1	607	c.452G>T	c.(451-453)gGg>gTg	p.G151V	ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V|ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000302913.4_Missense_Mutation_p.G151V|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)			16	Lung NSC(181;0.041)|all_lung(186;0.0581)			Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GAAGCCACCCCCATAGATCCA	0.612000																								0							SO:0001583	missense			ENST00000412389.1	1	1	hg19	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079176	0.76528	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	D;D;D;D;D;D;D;D;D	0.86097	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-2.07	5.45	4.56	0.56223	Carboxylesterase, type B (1);	0.050345	0.85682	D	0.000000	D	0.95114	0.8417	H	0.98487	4.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95826	0.8854	10	0.87932	D	0	.	11.8685	0.52507	0.0:0.9137:0.0:0.0863	.	151;151;151;151	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	V	151	ENSP00000403474:G151V;ENSP00000241069:G151V;ENSP00000414858:G151V;ENSP00000303211:G151V;ENSP00000394976:G151V;ENSP00000397143:G151V;ENSP00000399725:G151V;ENSP00000404865:G151V;ENSP00000396360:G151V	ENSP00000241069:G151V	G	-	2	0	ACHE	100329338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.560000	0.82277	1.274000	0.44362	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	1	0	1	125	475	0	99	1	1	81	104	0	99	2		0	0	0	0	0	2	1	1	123	463	0	98	2								-3.113094	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC17	140453	broad.mit.edu	37	7	100663468	100663468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100663468C>A	ENST00000306151.4	+	1	116	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	RP11-395B7.4_ENST00000448513.1_RNA|RP11-395B7.4_ENST00000441882.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated			343	Lung NSC(181;0.136)|all_lung(186;0.182)				GGTCCTCTCGCTCTTGCCCCC	0.662000																								0							SO:0001583	missense			ENST00000306151.4	1	1	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411676	0.11812	.	.	ENSG00000169876	ENST00000306151	T	0.02837	4.14	2.12	2.12	0.27331	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.56216	0.794	T	0.49925	-0.8887	9	0.87932	D	0	.	7.7734	0.29021	0.0:1.0:0.0:0.0	.	18	Q685J3	MUC17_HUMAN	I	18	ENSP00000302716:L18I	ENSP00000302716:L18I	L	+	1	0	MUC17	100450188	0.000000	0.05858	0.075000	0.20258	0.003000	0.03518	-0.141000	0.10327	1.511000	0.48818	0.407000	0.27541	CTC		TCGA-IB-7651-01A-11D-2154-08	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1	50	157	0	32	1	9.909449e-01	14	12	0	32	2		0	0	0	0	0	2	1	1	49	155	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC17	140453	broad.mit.edu	37	7	100676247	100676247	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100676247C>T	ENST00000306151.4	+	3	1614	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated			343	Lung NSC(181;0.136)|all_lung(186;0.182)				ACAAGTATGTCTGTCAGCACC	0.498000																								0							SO:0001583	missense			ENST00000306151.4	1	1	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.455	-0.563994	0.03939	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.45	-1.07	0.09968	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.31290	0.127	T	0.51795	-0.8660	9	0.37606	T	0.19	.	6.7974	0.23732	0.4807:0.5193:0.0:0.0	.	517	Q685J3	MUC17_HUMAN	F	517	ENSP00000302716:S517F	ENSP00000302716:S517F	S	+	2	0	MUC17	100462967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-0.270000	0.09285	-0.529000	0.04317	TCT		TCGA-IB-7651-01A-11D-2154-08	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	0	0	0	78	2645	0	652	1	3.331677e-01	3	38	0	652	2		0	0	0	0	0	2	1	1	77	2578	0	644	2								-3.214699	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.330000	0.260000	1.000000	0.340000	0.379158	0.330000	0	3.000000e-01	3.900000e-01
MUC17	140453	broad.mit.edu	37	7	100679840	100679840	+	Missense_Mutation	SNP	G	G	A	rs149023842	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100679840G>A	ENST00000306151.4	+	3	5207	c.5143G>A	c.(5143-5145)Gtt>Att	p.V1715I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated			343	Lung NSC(181;0.136)|all_lung(186;0.182)				AACAACTCCCGTTGACAACAG	0.468000																								0							SO:0001583	missense			ENST00000306151.4	1	0	hg19	CCDS34711.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	3.260	-0.151386	0.06585	6.81E-4	0.002674	ENSG00000169876	ENST00000306151	T	0.02103	4.45	1.19	-1.39	0.08997	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.25609	0.13	B	0.09377	0.004	T	0.47649	-0.9101	9	0.30078	T	0.28	.	4.7501	0.13056	0.3491:0.0:0.6509:0.0	.	1715	Q685J3	MUC17_HUMAN	I	1715	ENSP00000302716:V1715I	ENSP00000302716:V1715I	V	+	1	0	MUC17	100466560	0.063000	0.20901	0.000000	0.03702	0.004000	0.04260	1.975000	0.40569	-0.376000	0.07943	0.134000	0.15878	GTT		TCGA-IB-7651-01A-11D-2154-08	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1	414	1585	0	411	1	1	66	53	0	411	2		0	0	0	0	0	2	1	1	401	1549	0	409	2								-2.297991	0	1	121410	219	60	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC17	140453	broad.mit.edu	37	7	100681006	100681006	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100681006A>G	ENST00000306151.4	+	3	6373	c.6309A>G	c.(6307-6309)ctA>ctG	p.L2103L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated			343	Lung NSC(181;0.136)|all_lung(186;0.182)				GAAGTCCTCTACTAACAAGTA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000306151.4	1	1	hg19	CCDS34711.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1	286	1256	0	337	1	9.999975e-01	34	45	0	337	2		0	0	0	0	0	2	1	1	276	1224	0	338	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM56	81844	broad.mit.edu	37	7	100730866	100730866	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730866T>C	ENST00000306085.6	+	3	570	c.273T>C	c.(271-273)tgT>tgC	p.C91C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56			18	Lung NSC(181;0.136)|all_lung(186;0.182)				CCCGGGCCTGTGGAGACCTGC	0.701000													Ovarian(89;1092 1379 22756 38989 39611)											0							SO:0001819	synonymous_variant			ENST00000306085.6	1	1	hg19	CCDS43625.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	1	0	0	94	462	0	65	1	3.393775e-01	2	5	0	65	2		0	0	0	0	0	2	1	1	93	450	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM56	81844	broad.mit.edu	37	7	100730929	100730929	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730929C>T	ENST00000306085.6	+	3	633	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56			18	Lung NSC(181;0.136)|all_lung(186;0.182)				GCACCAGCACCGGGGGGCCGG	0.726000													Ovarian(89;1092 1379 22756 38989 39611)											0							SO:0001819	synonymous_variant			ENST00000306085.6	1	1	hg19	CCDS43625.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	1	0	1	74	256	0	40	1	5.677071e-01	5	3	0	40	2		0	0	0	0	0	2	1	1	74	253	0	39	2								-20.000000	1	0	119764	3	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINE1	5054	broad.mit.edu	37	7	100777156	100777156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100777156G>A	ENST00000223095.4	+	5	1038	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1			20	Lung NSC(181;0.136)|all_lung(186;0.182)			Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGGCTGCCCCGCCTCCTGGTT	0.592000																								0							SO:0001583	missense			ENST00000223095.4	1	1	hg19	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287680	0.80803	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.21932	1.98;1.98	5.47	5.47	0.80525	Serpin domain (3);	0.061905	0.64402	D	0.000010	T	0.43233	0.1238	L	0.54323	1.7	0.48571	D	0.999676	D;D	0.89917	1.0;1.0	D;D	0.76575	0.977;0.988	T	0.14643	-1.0465	10	0.59425	D	0.04	.	17.1908	0.86879	0.0:0.0:1.0:0.0	.	279;294	F8WD53;P05121	.;PAI1_HUMAN	H	294;279;71	ENSP00000223095:R294H;ENSP00000396766:R279H	ENSP00000223095:R294H	R	+	2	0	SERPINE1	100563876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.424000	0.66464	2.724000	0.93272	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	1	0	0	30	294	0	78	0	1	1	1800	0	78	2		0	0	0	0	0	2	1	1	30	286	0	76	2								-10.610370	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.760000	1.000000	1.000000	0.970716	0.990000	1	9.200000e-01	1
SERPINE1	5054	broad.mit.edu	37	7	100779051	100779051	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100779051C>T	ENST00000223095.4	+	7	1213	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	SERPINE1_ENST00000445463.2_Silent_p.N337N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1			20	Lung NSC(181;0.136)|all_lung(186;0.182)			Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCGAGGTGAACGAGAGTGGCA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000223095.4	1	1	hg19	CCDS5711.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	1	0	0	52	311	0	79	0	1	1	1665	0	79	2		0	0	0	0	0	2	1	1	53	308	0	77	2								-19.999910	1	1	121410	2	38	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
AP1S1	1174	broad.mit.edu	37	7	100802426	100802426	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100802426C>A	ENST00000337619.5	+	4	496	c.378C>A	c.(376-378)acC>acA	p.T126T	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit			8	Lung NSC(181;0.168)|all_lung(186;0.215)				TCCAGGACACCTCCAAGAAGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000337619.5	1	1	hg19	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	C	9.249	1.040322	0.19669	.	.	ENSG00000106367	ENST00000429457	.	.	.	4.82	-0.323	0.12709	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22800	-1.0206	4	.	.	.	3.3721	0.5486	0.00658	0.2789:0.337:0.1363:0.2478	.	.	.	.	H	168	.	.	P	+	2	0	AP1S1	100589146	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-2.737000	0.00801	-0.265000	0.09352	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	1	0	1	36	120	0	39	1	1	162	275	0	39	2		0	0	0	0	0	2	1	1	35	117	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOGAT3	346606	broad.mit.edu	37	7	100842058	100842058	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100842058G>A	ENST00000223114.4	-	4	508	c.342C>T	c.(340-342)caC>caT	p.H114H	MOGAT3_ENST00000379423.3_Silent_p.H114H|MOGAT3_ENST00000440203.2_Silent_p.H114H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3			22	Lung NSC(181;0.168)|all_lung(186;0.215)				TCCCATGAGGGTGGGCGCCCA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000223114.4	1	1	hg19	CCDS5714.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	1	0	1	100	445	0	102	1	7.569708e-01	6	8	0	102	2		0	0	0	0	0	2	1	1	99	430	0	101	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MOGAT3	346606	broad.mit.edu	37	7	100843573	100843573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100843573G>A	ENST00000223114.4	-	3	396	c.230C>T	c.(229-231)tCg>tTg	p.S77L	MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L|MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3			22	Lung NSC(181;0.168)|all_lung(186;0.215)				TATCCACTCCGAACGCCTTCC	0.567000																								0							SO:0001583	missense			ENST00000223114.4	1	1	hg19	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404648	0.25378	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.15139	2.45;2.45;2.45	4.65	-9.31	0.00646	.	1.276940	0.05401	N	0.540645	T	0.07999	0.0200	L	0.47716	1.5	0.09310	N	1	P;P	0.48162	0.906;0.676	B;B	0.37047	0.24;0.09	T	0.31052	-0.9957	10	0.11182	T	0.66	15.0773	1.1156	0.01714	0.305:0.2917:0.0947:0.3086	.	77;77	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	L	77	ENSP00000223114:S77L;ENSP00000403756:S77L;ENSP00000368734:S77L	ENSP00000223114:S77L	S	-	2	0	MOGAT3	100630293	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.916000	0.04029	-2.266000	0.00687	-0.189000	0.12847	TCG		TCGA-IB-7651-01A-11D-2154-08	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	1	0	1	105	890	0	210	1	5.813550e-01	3	15	0	210	2		0	0	0	0	0	2	1	1	105	861	0	207	2								-3.318794	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999669	0.990000	1	9.900000e-01	1
PLOD3	8985	broad.mit.edu	37	7	100859508	100859508	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100859508G>A	ENST00000223127.3	-	4	836	c.438C>T	c.(436-438)ccC>ccT	p.P146P	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3			31	Lung NSC(181;0.168)|all_lung(186;0.215)			Succinic acid(DB00139)|Vitamin C(DB00126)	GCCCCCACTCGGGCCAGCAGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000223127.3	1	1	hg19	CCDS5715.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1	1	0	1	63	227	0	47	1	1	123	246	0	47	2		0	0	0	0	0	2	1	1	63	221	0	45	2								-3.885541	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYL10	93408	broad.mit.edu	37	7	101256954	101256954	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101256954G>T	ENST00000223167.4	-	7	747	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory			12					CCTCCTCACTGAAGCGGTCTG	0.547000													Esophageal Squamous(24;575 709 17516 40384 51639)											0							SO:0001583	missense			ENST00000223167.4	1	1	hg19	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575912	0.86645	.	.	ENSG00000106436	ENST00000223167	T	0.74315	-0.83	4.61	3.71	0.42584	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.76026	0.3930	L	0.58583	1.82	0.52501	D	0.999956	D	0.55172	0.97	P	0.52758	0.708	T	0.75510	-0.3292	10	0.39692	T	0.17	.	10.8521	0.46775	0.0964:0.0:0.9036:0.0	.	190	Q9BUA6	MYL10_HUMAN	L	190	ENSP00000223167:F190L	ENSP00000223167:F190L	F	-	3	2	MYL10	101043674	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.324000	0.52022	2.122000	0.65172	0.650000	0.86243	TTC		TCGA-IB-7651-01A-11D-2154-08	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	1	0	1	64	396	0	95	0	5.437471e-02	0	3	0	95	2		0	0	0	0	0	2	1	1	62	389	0	93	2								-3.318966	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CUX1	1523	broad.mit.edu	37	7	101559470	101559470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101559470G>A	ENST00000292535.7	+	2	144	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000360264.3_Missense_Mutation_p.E47K|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1			70					GCGGCTTATCGAACAGAGCCG	0.527000																								0							SO:0001583	missense			ENST00000292535.7	1	1	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768339	0.90020	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T;T	0.70399	1.45;1.19;1.45;-0.48;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.47	5.47	0.80525	.	0.076771	0.50627	D	0.000109	T	0.71995	0.3406	L	0.31664	0.95	0.80722	D	1	D;D;P;D;P;D	0.71674	0.998;0.985;0.882;0.991;0.669;0.998	P;B;B;P;B;P	0.54346	0.566;0.314;0.338;0.512;0.094;0.749	T	0.75317	-0.3360	10	0.66056	D	0.02	-27.7761	17.5093	0.87755	0.0:0.0:1.0:0.0	.	36;47;47;47;47;47	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	K	47;47;47;47;47;47;36;36;36;36;36	ENSP00000292538:E47K;ENSP00000449371:E47K;ENSP00000353401:E47K;ENSP00000377410:E47K;ENSP00000409745:E47K;ENSP00000414091:E47K;ENSP00000292535:E36K;ENSP00000446630:E36K;ENSP00000447373:E36K;ENSP00000450125:E36K;ENSP00000451558:E36K	ENSP00000292535:E36K	E	+	1	0	CUX1	101346190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.955000	0.93058	2.570000	0.86706	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	1	0	1	114	532	0	164	1	1	27	193	0	164	2		0	0	0	0	0	2	1	1	115	523	0	159	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUX1	1523	broad.mit.edu	37	7	101747666	101747666	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101747666C>T	ENST00000292535.7	+	6	495	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000292538.4_Silent_p.L164L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000360264.3_Silent_p.L164L|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000556210.1_Silent_p.L153L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1			70					TGAACAGACACTGAAGAACCA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000292535.7	1	1	hg19	CCDS5721.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	0	0	0	112	538	0	142	1	1	42	255	0	142	2		0	0	0	0	0	2	1	1	109	531	0	141	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUX1	1523	broad.mit.edu	37	7	101848408	101848408	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101848408A>G	ENST00000292535.7	+	20	3126	c.3088A>G	c.(3088-3090)Aca>Gca	p.T1030A	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.T1041A|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000550008.2_Missense_Mutation_p.T974A|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1			70					CCACTCCGTGACATCGCTCCA	0.512000																								0							SO:0001583	missense			ENST00000292535.7	0	1	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	7.988	0.752581	0.15778	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.61158	0.15;0.14;0.15;0.14;0.15;0.13	5.71	0.191	0.15130	.	0.545468	0.18875	N	0.128726	T	0.33614	0.0869	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.07868	-1.0750	10	0.12103	T	0.63	-1.6649	5.8183	0.18514	0.5672:0.2374:0.1954:0.0	.	1030;1041	P39880;P39880-3	CUX1_HUMAN;.	A	1041;1030;1008;974;928;872	ENSP00000353401:T1041A;ENSP00000292535:T1030A;ENSP00000446630:T1008A;ENSP00000447373:T974A;ENSP00000450125:T928A;ENSP00000451558:T872A	ENSP00000292535:T1030A	T	+	1	0	CUX1	101635128	1.000000	0.71417	0.973000	0.42090	0.051000	0.14879	1.517000	0.35867	-0.187000	0.10516	0.482000	0.46254	ACA		TCGA-IB-7651-01A-11D-2154-08	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	0	0	0	10	324	0	81	0	1.530593e-01	0	21	0	81	2		0	0	0	0	0	2	1	9.968516e-01	10	321	0	81	2								-3.339961	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.370000	0.180000	1.000000	0.350000	0.416443	0.370000	0	2.600000e-01	5.200000e-01
CUX1	1523	broad.mit.edu	37	7	101877361	101877361	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877361G>T	ENST00000292535.7	+	22	3501	c.3463G>T	c.(3463-3465)Ggg>Tgg	p.G1155W	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.G1166W|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1			70					GACCATCTTAGGGCTCACCCA	0.557000																								0							SO:0001583	missense			ENST00000292535.7	1	1	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216979	0.79352	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.66099	-0.16;-0.16;-0.18;-0.19;-0.18;-0.18	5.32	4.43	0.53597	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.84739	0.0750	10	0.87932	D	0	-23.4085	14.2405	0.65954	0.0727:0.0:0.9273:0.0	.	1155;1166	P39880;P39880-3	CUX1_HUMAN;.	W	1166;1155;1133;1099;1053;997	ENSP00000353401:G1166W;ENSP00000292535:G1155W;ENSP00000446630:G1133W;ENSP00000447373:G1099W;ENSP00000450125:G1053W;ENSP00000451558:G997W	ENSP00000292535:G1155W	G	+	1	0	CUX1	101664081	1.000000	0.71417	0.932000	0.37286	0.997000	0.91878	7.974000	0.88039	1.215000	0.43411	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	1	0	1	58	351	0	77	1	8.377757e-01	4	18	0	77	2		0	0	0	0	0	2	1	1	58	346	0	76	2								-2.745332	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CUX1	1523	broad.mit.edu	37	7	101877433	101877433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877433C>T	ENST00000292535.7	+	22	3573	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Nonsense_Mutation_p.R1190*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1			70					TCTGAAAGGACGAGAGCCCTT	0.557000																								0							SO:0001587	stop_gained			ENST00000292535.7	0	1	hg19	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	40	8.128236	0.98667	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.32	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7042	15.861	0.79021	0.2249:0.7751:0.0:0.0	.	.	.	.	X	1190;1179;1157;1123;1077;1021	.	ENSP00000292535:R1179X	R	+	1	2	CUX1	101664153	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	1.359000	0.34113	2.486000	0.83907	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	1	0	1	83	272	0	62	1	9.873826e-01	7	18	0	62	2		0	0	0	0	0	2	1	1	82	266	0	62	2								-4.588708	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUX1	1523	broad.mit.edu	37	7	101916707	101916707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101916707C>T	ENST00000437600.4	+	15	1672	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Silent_p.I442I|CUX1_ENST00000547394.2_Silent_p.I426I|CUX1_ENST00000425244.2_Silent_p.I396I|CUX1_ENST00000393824.3_Silent_p.I403I	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1			70					GAGAGCTGATCGCCCGCCTGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000437600.4	1	1	hg19	CCDS47672.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	1	0	0	16	92	0	24	1	9.999997e-01	39	146	0	24	2		0	0	0	0	0	2	1	9.999533e-01	16	91	0	23	2								-20.000000	1	1	121406	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998464	0.990000	1	9.900000e-01	1
CUX1	1523	broad.mit.edu	37	7	101921318	101921318	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101921318G>A	ENST00000437600.4	+	18	2008	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Silent_p.L554L|CUX1_ENST00000547394.2_Silent_p.L538L|CUX1_ENST00000425244.2_Silent_p.L508L|CUX1_ENST00000393824.3_Silent_p.L515L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1			70					TCAAGTTCCTGCAGAGCTACC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000437600.4	1	1	hg19	CCDS47672.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	1	0	1	15	116	0	24	1	9.999997e-01	31	220	0	24	2		0	0	0	0	0	2	1	9.999050e-01	15	116	0	24	2								-19.999030	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.986865	0.990000	1	9.900000e-01	1
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)			8					CTCGACGGGCCGGAAGCCCTC	0.692000																								0							SO:0001583	missense			ENST00000292566.3	1	1	hg19	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681915	0.14907	.	.	ENSG00000160993	ENST00000292566	T	0.46063	0.88	4.56	-2.03	0.07365	.	0.599443	0.16196	N	0.225149	T	0.12518	0.0304	N	0.02985	-0.445	0.30285	N	0.790978	B	0.15719	0.014	B	0.08055	0.003	T	0.30995	-0.9959	10	0.09338	T	0.73	-14.5705	4.4711	0.11714	0.261:0.2274:0.0:0.5116	.	149	Q9NXW9	ALKB4_HUMAN	Q	149	ENSP00000292566:R149Q	ENSP00000292566:R149Q	R	-	2	0	ALKBH4	101885309	0.994000	0.37717	0.976000	0.42696	0.960000	0.62799	0.346000	0.19997	-0.161000	0.10983	-0.258000	0.10820	CGG		TCGA-IB-7651-01A-11D-2154-08	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	1	0	1	20	197	0	32	1	9.871711e-01	15	57	0	32	2		0	0	0	0	0	2	1	9.999949e-01	18	192	0	32	2								-20.000000	1	1	121366	1	28	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.958497	0.990000	1	8.800000e-01	1
LRWD1	222229	broad.mit.edu	37	7	102106440	102106440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102106440C>T	ENST00000292616.5	+	2	409	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1			20					GATGTTACTGCCTTGTGCCAG	0.627000																								0							SO:0001583	missense			ENST00000292616.5	1	1	hg19	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090407	0.20471	.	.	ENSG00000161036	ENST00000292616	T	0.60040	0.22	5.19	-0.411	0.12370	.	1.003600	0.08021	N	0.991985	T	0.32255	0.0823	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14117	-1.0484	10	0.23302	T	0.38	-21.2124	1.2457	0.01972	0.1397:0.3396:0.2726:0.2481	.	86	Q9UFC0	LRWD1_HUMAN	V	86	ENSP00000292616:A86V	ENSP00000292616:A86V	A	+	2	0	LRWD1	101893445	0.000000	0.05858	0.000000	0.03702	0.707000	0.40811	0.133000	0.15912	-0.382000	0.07870	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	0	0	1	22	205	0	50	1	9.739680e-01	7	51	0	50	2		0	0	0	0	0	2	1	9.999987e-01	22	198	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.750000	1.000000	1.000000	0.972988	0.990000	1	9.300000e-01	1
LRWD1	222229	broad.mit.edu	37	7	102107909	102107909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102107909G>A	ENST00000292616.5	+	4	708	c.556G>A	c.(556-558)Gag>Aag	p.E186K	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1			20					GTCCCTCAGCGAGTTCACCCA	0.622000											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000292616.5	1	1	hg19	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763152	0.89932	.	.	ENSG00000161036	ENST00000292616	T	0.61980	0.06	4.87	4.87	0.63330	.	0.283914	0.39210	N	0.001421	T	0.49915	0.1585	L	0.50333	1.59	0.58432	D	0.999998	P	0.49358	0.923	B	0.31869	0.137	T	0.54807	-0.8238	10	0.29301	T	0.29	-13.4247	15.3252	0.74154	0.0:0.0:1.0:0.0	.	186	Q9UFC0	LRWD1_HUMAN	K	186	ENSP00000292616:E186K	ENSP00000292616:E186K	E	+	1	0	LRWD1	101894914	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.608000	0.82898	2.527000	0.85204	0.462000	0.41574	GAG		TCGA-IB-7651-01A-11D-2154-08	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	1	0	1	37	174	0	37	1	9.999291e-01	20	52	0	37	2		0	0	0	0	0	2	1	1	36	159	0	32	2								-3.416505	1	0	121404	1	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LRWD1	222229	broad.mit.edu	37	7	102113476	102113476	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102113476G>A	ENST00000292616.5	+	15	2076	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1			20					CAACATCGTAGCCATCTGGGG	0.592000																								0							SO:0001583	missense			ENST00000292616.5	1	1	hg19	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819219	0.32145	.	.	ENSG00000161036	ENST00000292616	T	0.61274	0.12	5.94	5.04	0.67666	.	0.351640	0.33854	N	0.004491	T	0.48370	0.1496	L	0.50333	1.59	0.32081	N	0.593122	B	0.28605	0.217	B	0.24541	0.054	T	0.53486	-0.8432	10	0.13108	T	0.6	-18.8346	13.5495	0.61723	0.0:0.0:0.8392:0.1608	.	642	Q9UFC0	LRWD1_HUMAN	T	642	ENSP00000292616:A642T	ENSP00000292616:A642T	A	+	1	0	LRWD1	101900481	0.999000	0.42202	0.856000	0.33681	0.631000	0.37964	3.150000	0.50662	1.464000	0.47987	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	1	0	1	62	312	0	91	1	9.998106e-01	20	46	0	91	2		0	0	0	0	0	2	1	1	61	305	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2W1	54905	broad.mit.edu	37	7	1024606	1024606	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1024606G>A	ENST00000308919.7	+	3	371	c.358G>A	c.(358-360)Gcg>Acg	p.A120T	CYP2W1_ENST00000340150.6_Missense_Mutation_p.A64T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1			7		Ovarian(82;0.0112)			CTCATCTGGGGCGCGCTGGAG	0.657000																								0							SO:0001583	missense			ENST00000308919.7	0	1	hg19	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823827	0.32237	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.79454	-1.27;-1.27	4.95	-3.52	0.04682	.	0.687765	0.14946	N	0.289225	T	0.65048	0.2654	N	0.20530	0.585	0.09310	N	1	B;B	0.33345	0.409;0.409	B;B	0.38755	0.281;0.158	T	0.60151	-0.7319	10	0.48119	T	0.1	.	15.0167	0.71591	0.0767:0.2303:0.693:0.0	.	64;120	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	T	120;64	ENSP00000310149:A120T;ENSP00000344178:A64T	ENSP00000310149:A120T	A	+	1	0	CYP2W1	991132	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.068000	0.14531	-0.155000	0.11098	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	0	0	0	9	326	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.942225e-01	9	324	0	60	2								-9.567587	1	1	121016	3	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.330000	0.160000	1.000000	0.320000	0.382695	0.330000	0	2.300000e-01	4.800000e-01
FBXL13	222235	broad.mit.edu	37	7	102524065	102524065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102524065C>T	ENST00000313221.4	-	13	1601	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000379306.3_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13			27					TCTGAAAGTACAATCGGAGAT	0.338000																								0							SO:0001583	missense			ENST00000313221.4	1	1	hg19	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.086948	0.00367	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34	5.12	-3.21	0.05140	.	2.163390	0.01497	N	0.017337	T	0.02156	0.0067	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.46119	-0.9214	10	0.45353	T	0.12	.	0.4513	0.00501	0.2894:0.1769:0.2975:0.2363	.	392;392;392	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	Y	392	ENSP00000377367:C392Y;ENSP00000368610:C392Y;ENSP00000368607:C392Y;ENSP00000388608:C392Y;ENSP00000321927:C392Y;ENSP00000391550:C392Y	ENSP00000321927:C392Y	C	-	2	0	FBXL13	102311301	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.090000	0.15025	-0.238000	0.09724	0.655000	0.94253	TGT		TCGA-IB-7651-01A-11D-2154-08	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	1	0	1	48	235	0	55	0	7.949047e-02	0	3	0	55	2		0	0	0	0	0	2	1	1	47	234	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAPEPLD	222236	broad.mit.edu	37	7	102760532	102760532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102760532G>T	ENST00000417955.1	-	3	587	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D			17					GGATCCGTGAGAAATATGAGC	0.498000																								0							SO:0001583	missense			ENST00000417955.1	1	1	hg19	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313779	0.95655	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.81239	2.535	0.80722	D	1	D;D	0.64830	0.994;0.994	D;P	0.67725	0.953;0.889	D	0.95625	0.8684	10	0.56958	D	0.05	-16.9828	20.3334	0.98727	0.0:0.0:1.0:0.0	.	218;145	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	I	145;145;145;145;218	ENSP00000340093:L145I;ENSP00000407112:L145I;ENSP00000419188:L145I;ENSP00000392775:L145I;ENSP00000414364:L218I	ENSP00000340093:L145I	L	-	1	0	NAPEPLD	102547768	1.000000	0.71417	0.868000	0.34077	0.980000	0.70556	8.004000	0.88535	2.818000	0.97014	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	1	0	1	105	351	0	99	1	9.832777e-01	7	17	0	99	2		0	0	0	0	0	2	1	1	102	349	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJC2	27000	broad.mit.edu	37	7	102967077	102967077	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102967077G>T	ENST00000379263.3	-	5	735	c.485C>A	c.(484-486)cCt>cAt	p.P162H	DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2			21					ATCAAAAGTAGGATCTACACT	0.343000																								0							SO:0001583	missense			ENST00000379263.3	1	1	hg19	CCDS43628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.257838|4.257838	0.80246|0.80246	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000426036|ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.097634	.|0.64402	.|D	.|0.000001	D|D	0.83631|0.83631	0.5296|0.5296	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.684;1.0	.|P;D	.|0.87578	.|0.511;0.998	D|D	0.84601|0.84601	0.0672|0.0672	5|9	.|0.72032	.|D	.|0.01	-18.9832|-18.9832	19.7069|19.7069	0.96076|0.96076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|162;162	.|Q99543-2;Q99543	.|.;DNJC2_HUMAN	I|H	151|162;162;162;88	.|.	.|ENSP00000249270:P162H	L|P	-|-	1|2	2|0	DNAJC2|DNAJC2	102754313|102754313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.955000|8.955000	0.93058|0.93058	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CTA|CCT		TCGA-IB-7651-01A-11D-2154-08	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1	1	0	1	35	182	0	41	1	9.995264e-01	15	49	0	41	2		0	0	0	0	0	2	1	1	34	176	0	41	2								-3.180091	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
PSMC2	5701	broad.mit.edu	37	7	103008360	103008360	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103008360C>T	ENST00000435765.1	+	13	1572	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	PSMC2_ENST00000544811.1_Silent_p.S250S|PSMC2_ENST00000292644.3_Silent_p.S387S|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	p.S387S(1)		21					AGATTAGAAGCGTCTGCACAG	0.408000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000435765.1	1	1	hg19	CCDS5731.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	1	0	0	80	433	0	91	1	1	192	495	0	91	2		0	0	0	0	0	2	1	1	80	424	0	89	2								-20.000000	1	1	121412	1	25	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A5	375611	broad.mit.edu	37	7	103014868	103014868	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103014868G>A	ENST00000306312.3	-	20	2474	c.2213C>T	c.(2212-2214)aCt>aTt	p.T738I	SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5			43					AGTGGCAGGAGTGGCATTGGG	0.498000																								0							SO:0001583	missense			ENST00000306312.3	1	1	hg19	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509203	0.64522	.	.	ENSG00000170615	ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D	0.95918	-3.19;-3.19;-3.19;-3.85;-3.12;-3.19;-3.19	5.69	2.68	0.31781	.	0.497940	0.20465	N	0.091816	D	0.87573	0.6211	N	0.08118	0	0.09310	N	1	B;P	0.45348	0.085;0.856	B;B	0.41299	0.039;0.353	T	0.82236	-0.0557	10	0.72032	D	0.01	.	7.3653	0.26770	0.0:0.2418:0.4582:0.3	.	738;706	P58743;Q496J2	S26A5_HUMAN;.	I	738;706;706;171;701;740;708	ENSP00000304783:T738I;ENSP00000377331:T706I;ENSP00000389733:T706I;ENSP00000346325:T171I;ENSP00000377330:T701I;ENSP00000377328:T740I;ENSP00000377324:T708I	ENSP00000304783:T738I	T	-	2	0	SLC26A5	102802104	0.061000	0.20836	0.875000	0.34327	0.735000	0.41995	1.295000	0.33377	1.402000	0.46780	0.454000	0.30748	ACT		TCGA-IB-7651-01A-11D-2154-08	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	1	0	1	40	144	0	48		0	0	0	0	48	2	0	0	1	0	0	0	2	1	1	36	135	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A5	375611	broad.mit.edu	37	7	103033451	103033451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103033451G>T	ENST00000306312.3	-	10	1295	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	p.A345V(1)		43					GATGGCTATGGCAATGGCATC	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000306312.3	1	1	hg19	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230698	0.95207	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.74	5.74	0.90152	Sulphate transporter (1);	0.048654	0.85682	D	0.000000	D	0.97473	0.9173	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.995;0.979;0.992	D	0.97869	1.0285	10	0.87932	D	0	.	19.514	0.95155	0.0:0.0:1.0:0.0	.	345;345;345;345	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	D	345;345;345;345;345;308;345;345	ENSP00000342396:A345D;ENSP00000377336:A345D;ENSP00000304783:A345D;ENSP00000377331:A345D;ENSP00000389733:A345D;ENSP00000377330:A308D;ENSP00000377328:A345D;ENSP00000377324:A345D	ENSP00000304783:A345D	A	-	2	0	SLC26A5	102820687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.707000	0.92482	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	1	0	1	72	296	0	78	0	0	0	1	0	78	2		0	0	0	0	0	2	1	1	72	287	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103138291	103138291	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138291G>A	ENST00000428762.1	-	55	9085	c.8926C>T	c.(8926-8928)Ctg>Ttg	p.L2976L	RELN_ENST00000424685.2_Silent_p.L2976L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.L2976L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					TAGTCCAACAGCACGCCTTCC	0.527000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001819	synonymous_variant			ENST00000428762.1	1	1	hg19	CCDS47680.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	31	201	0	44	0	1.425842e-01	0	5	0	44	2		0	0	0	0	0	2	1	1	31	200	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999645	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103138584	103138584	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138584T>C	ENST00000428762.1	-	54	8942	c.8783A>G	c.(8782-8784)tAt>tGt	p.Y2928C	RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					TCCCCCAAAATAGAGTGCAGT	0.423000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001583	missense			ENST00000428762.1	1	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475388	0.84640	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.987	T	0.50389	-0.8834	10	0.87932	D	0	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	2928;2928	P78509-2;P78509	.;RELN_HUMAN	C	2928;2928;2928;445;2928	ENSP00000392423:Y2928C;ENSP00000345694:Y2928C;ENSP00000388446:Y2928C	ENSP00000345694:Y2928C	Y	-	2	0	RELN	102925820	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.254000	0.74563	0.533000	0.62120	TAT		TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	90	388	0	112	0	1.656807e-01	0	4	0	112	2		0	0	0	0	0	2	1	1	87	381	0	112	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103138682	103138682	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138682G>A	ENST00000428762.1	-	54	8844	c.8685C>T	c.(8683-8685)cgC>cgT	p.R2895R	RELN_ENST00000424685.2_Silent_p.R2895R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R2895R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					CACTGTCAAAGCGTTCCTTCA	0.373000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001819	synonymous_variant			ENST00000428762.1	1	1	hg19	CCDS47680.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	58	314	0	80	0	0	0	1	0	80	2		0	0	0	0	0	2	1	1	57	305	0	78	2								-20.000000	1	0	121412	2	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103141228	103141228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103141228G>T	ENST00000428762.1	-	53	8790	c.8631C>A	c.(8629-8631)taC>taA	p.Y2877*	RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					TTGGCCCTGAGTATCCCGGAT	0.512000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001587	stop_gained			ENST00000428762.1	0	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	50	17.167829	0.99880	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.36	4.47	0.54385	.	0.187164	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7502	0.46205	0.1447:0.0:0.8553:0.0	.	.	.	.	X	2877;2877;2877;394;2877	.	ENSP00000345694:Y2877X	Y	-	3	2	RELN	102928464	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	3.209000	0.51122	2.489000	0.83994	0.655000	0.94253	TAC		TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	0	0	20	563	0	108	0	2.482378e-02	0	7	0	108	2		0	0	0	0	0	2	1	9.999938e-01	20	547	0	107	2								-3.958565	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.410000	0.250000	1.000000	0.410000	0.453660	0.410000	0	3.200000e-01	5.300000e-01
RELN	5649	broad.mit.edu	37	7	103175782	103175782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103175782G>A	ENST00000428762.1	-	46	7489	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	RELN_ENST00000343529.5_Missense_Mutation_p.P2444S|RELN_ENST00000424685.2_Missense_Mutation_p.P2444S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					GGAGGGAGAGGCAGAGTGATT	0.453000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001583	missense			ENST00000428762.1	1	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843027	0.91197	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.56776	0.44;0.44;0.44	5.57	5.57	0.84162	Neuraminidase (1);	0.105231	0.64402	D	0.000002	T	0.72875	0.3515	M	0.73962	2.25	0.80722	D	1	D;P	0.67145	0.996;0.519	D;B	0.64410	0.925;0.09	T	0.74788	-0.3546	10	0.72032	D	0.01	.	19.9029	0.96995	0.0:0.0:1.0:0.0	.	2444;2444	P78509-2;P78509	.;RELN_HUMAN	S	2444	ENSP00000392423:P2444S;ENSP00000345694:P2444S;ENSP00000388446:P2444S	ENSP00000345694:P2444S	P	-	1	0	RELN	102963018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.780000	0.95670	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	30	160	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	1	30	157	0	54	2								-16.796490	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103191616	103191616	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103191616G>T	ENST00000428762.1	-	41	6359	c.6200C>A	c.(6199-6201)tCt>tAt	p.S2067Y	RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y|RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					GGAGCATAAAGAGCTGACGTG	0.597000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001583	missense			ENST00000428762.1	1	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807492	0.70797	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.7	5.7	0.88788	Neuraminidase (1);	0.114362	0.64402	D	0.000008	T	0.41190	0.1148	L	0.40543	1.245	0.58432	D	0.999993	D;D	0.76494	0.995;0.999	P;D	0.76071	0.823;0.987	T	0.12243	-1.0555	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2067;2067	P78509-2;P78509	.;RELN_HUMAN	Y	2067	ENSP00000392423:S2067Y;ENSP00000345694:S2067Y;ENSP00000388446:S2067Y	ENSP00000345694:S2067Y	S	-	2	0	RELN	102978852	1.000000	0.71417	0.992000	0.48379	0.282000	0.26991	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	25	207	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	9.999998e-01	25	199	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.990778	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103197551	103197551	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103197551G>A	ENST00000428762.1	-	38	5829	c.5670C>T	c.(5668-5670)atC>atT	p.I1890I	RELN_ENST00000343529.5_Silent_p.I1890I|RELN_ENST00000424685.2_Silent_p.I1890I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					GGTGCCAAGTGATTCCTCCAC	0.383000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001819	synonymous_variant			ENST00000428762.1	1	1	hg19	CCDS47680.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	64	305	0	103	0	3.091758e-02	0	2	0	103	2		0	0	0	0	0	2	1	1	63	301	0	103	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103215993	103215993	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103215993A>G	ENST00000428762.1	-	29	4463		c.e29+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					ATTTAGCCTTACCAGTATATC	0.398000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001630	splice_region_variant			ENST00000428762.1	1	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797698	0.50208	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9441	0.79779	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103003229	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	8.910000	0.92685	2.225000	0.72522	0.460000	0.39030	.		TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	45	267	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	45	265	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103276725G>A	ENST00000428762.1	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000424685.2_Missense_Mutation_p.R754W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					AGCTGACGCCGCCCATCTTTG	0.443000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001583	missense			ENST00000428762.1	1	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420106	0.62622	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26518	1.73;1.73;1.73	5.76	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.50333	1.59	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.24764	-1.0151	10	0.62326	D	0.03	.	14.2494	0.66009	0.0:0.0:0.4862:0.5137	.	754;754	P78509-2;P78509	.;RELN_HUMAN	W	754	ENSP00000392423:R754W;ENSP00000345694:R754W;ENSP00000388446:R754W	ENSP00000345694:R754W	R	-	1	2	RELN	103063961	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.132000	0.31418	0.091000	0.17302	-0.282000	0.10007	CGG		TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	36	138	0	32	0	0	0	1	0	32	2		0	0	0	0	0	2	1	1	35	137	0	32	2								-3.640033	1	1	121396	2	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RELN	5649	broad.mit.edu	37	7	103290811	103290811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103290811G>A	ENST00000428762.1	-	16	2071	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	RELN_ENST00000343529.5_Missense_Mutation_p.P638S|RELN_ENST00000424685.2_Missense_Mutation_p.P638S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					TTAGGAAGGGGAATTGTTATT	0.398000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001583	missense			ENST00000428762.1	0	1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816746	0.90790	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	2.04;1.96;2.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.986	T	0.17410	-1.0370	10	0.59425	D	0.04	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	638;638	P78509-2;P78509	.;RELN_HUMAN	S	638	ENSP00000392423:P638S;ENSP00000345694:P638S;ENSP00000388446:P638S	ENSP00000345694:P638S	P	-	1	0	RELN	103078047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.894000	0.99253	0.591000	0.81541	CCC		TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	0	0	10	310	0	53	0	3.705627e-03	0	3	0	53	2		0	0	0	0	0	2	1	9.969028e-01	10	308	0	53	2								-3.245064	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.390000	0.190000	1.000000	0.370000	0.431889	0.390000	0	2.800000e-01	5.500000e-01
RELN	5649	broad.mit.edu	37	7	103292173	103292173	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103292173T>C	ENST00000428762.1	-	15	1986	c.1827A>G	c.(1825-1827)ttA>ttG	p.L609L	RELN_ENST00000343529.5_Silent_p.L609L|RELN_ENST00000424685.2_Silent_p.L609L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					AGATCTCAGGTAAGCATTCAG	0.483000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001819	synonymous_variant			ENST00000428762.1	1	1	hg19	CCDS47680.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	1	28	195	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	27	185	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998756	0.990000	1	9.900000e-01	1
LHFPL3	375612	broad.mit.edu	37	7	104377124	104377124	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104377124G>A	ENST00000401970.2	+	2	528	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	LHFPL3_ENST00000535008.1_Intron|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000543266.1_Intron|LHFPL3_ENST00000424859.1_Missense_Mutation_p.A136T			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3			9					TCTCCAAGCTGCCTGCCTTGT	0.398000																								0							SO:0001583	missense			ENST00000401970.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.11	1.840857	0.32513	.	.	ENSG00000187416	ENST00000424859;ENST00000401970	T;T	0.71461	-0.57;-0.57	5.22	5.22	0.72569	.	0.163431	0.53938	D	0.000045	T	0.50871	0.1641	N	0.03115	-0.41	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.18263	0.021;0.021	T	0.44345	-0.9334	10	0.25751	T	0.34	-15.1213	19.3361	0.94319	0.0:0.0:1.0:0.0	.	150;150	A1L384;A4D0Q5	.;.	T	136	ENSP00000393128:A136T;ENSP00000385374:A136T	ENSP00000385374:A136T	A	+	1	0	LHFPL3	104164360	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.485000	0.66850	2.878000	0.98634	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	1	0	1	11	69	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.987348e-01	11	69	0	24	2								-19.073140	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.870000	1.000000	1.000000	0.992388	0.990000	1	9.900000e-01	1
RINT1	60561	broad.mit.edu	37	7	105177065	105177065	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105177065G>T	ENST00000257700.2	+	3	373	c.142G>T	c.(142-144)Gat>Tat	p.D48Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1			22					TGAAGGTACAGATAATGGTGA	0.338000																								0							SO:0001583	missense			ENST00000257700.2	1	1	hg19	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079517	0.55753	.	.	ENSG00000135249	ENST00000257700	T	0.26660	1.72	5.2	3.35	0.38373	.	0.216469	0.45867	D	0.000324	T	0.25457	0.0619	L	0.39898	1.24	0.23266	N	0.998011	D	0.53885	0.963	P	0.45946	0.498	T	0.06356	-1.0831	10	0.59425	D	0.04	-8.8286	11.9528	0.52964	0.1471:0.0:0.8529:0.0	.	48	Q6NUQ1	RINT1_HUMAN	Y	48	ENSP00000257700:D48Y	ENSP00000257700:D48Y	D	+	1	0	RINT1	104964301	1.000000	0.71417	0.024000	0.17045	0.989000	0.77384	4.669000	0.61575	0.545000	0.28902	0.491000	0.48974	GAT		TCGA-IB-7651-01A-11D-2154-08	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	0	0	1	109	500	1	90	1	7.436919e-01	8	6	1	90	2		0	0	0	0	0	2	1	1	108	492	1	89	22								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RINT1	60561	broad.mit.edu	37	7	105189035	105189035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105189035G>T	ENST00000257700.2	+	7	1105	c.874G>T	c.(874-876)Gaa>Taa	p.E292*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1			22					GCAACTCCCAGAAAAATACTC	0.423000																								0							SO:0001587	stop_gained			ENST00000257700.2	0	1	hg19	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171327	0.98688	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.78	5.78	0.91487	.	0.401672	0.28252	N	0.016022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.3046	20.0098	0.97447	0.0:0.0:1.0:0.0	.	.	.	.	X	292	.	ENSP00000257700:E292X	E	+	1	0	RINT1	104976271	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.235000	0.78143	2.719000	0.93026	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	1	0	1	112	546	0	131	1	9.994253e-01	5	50	0	131	2		0	0	0	0	0	2	1	1	110	532	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RINT1	60561	broad.mit.edu	37	7	105190563	105190563	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105190563A>C	ENST00000257700.2	+	8	1289	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1			22					TTTCTGGATGAGAAGATTCAG	0.378000																								0							SO:0001583	missense			ENST00000257700.2	1	1	hg19	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402508	0.62288	.	.	ENSG00000135249	ENST00000257700	T	0.33865	1.39	5.5	5.5	0.81552	.	0.046124	0.85682	D	0.000000	T	0.28797	0.0714	L	0.44542	1.39	0.80722	D	1	P	0.39576	0.679	B	0.34452	0.183	T	0.06588	-1.0818	10	0.13108	T	0.6	-20.0302	15.8976	0.79346	1.0:0.0:0.0:0.0	.	353	Q6NUQ1	RINT1_HUMAN	A	353	ENSP00000257700:E353A	ENSP00000257700:E353A	E	+	2	0	RINT1	104977799	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.706000	0.91362	2.212000	0.71576	0.528000	0.53228	GAG		TCGA-IB-7651-01A-11D-2154-08	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	1	0	1	55	286	0	57	1	9.945594e-01	17	27	0	57	2		0	0	0	0	0	2	1	1	54	283	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RINT1	60561	broad.mit.edu	37	7	105204333	105204333	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105204333C>T	ENST00000257700.2	+	12	2056	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1			22					TATGTTGACCCGTCAAGTAGA	0.383000																								0							SO:0001583	missense			ENST00000257700.2	1	1	hg19	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352824	0.82132	.	.	ENSG00000135249	ENST00000257700	T	0.31510	1.49	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.53486	-0.8432	10	0.56958	D	0.05	-16.4485	16.034	0.80608	0.0:0.9353:0.0:0.0647	.	609	Q6NUQ1	RINT1_HUMAN	C	609	ENSP00000257700:R609C	ENSP00000257700:R609C	R	+	1	0	RINT1	104991569	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.233000	0.51311	1.596000	0.50062	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	1	0	1	35	245	0	79	1	9.847551e-01	2	47	0	79	2		0	0	0	0	0	2	1	1	35	233	0	77	2								-2.364807	0	1	121412	1	23	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999399	0.990000	1	9.900000e-01	1
CDHR3	222256	broad.mit.edu	37	7	105660870	105660870	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105660870A>G	ENST00000317716.9	+	13	1785	c.1705A>G	c.(1705-1707)Aac>Gac	p.N569D	CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.N569D	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3			23					TTGTACTCCAAACTCTTATTT	0.408000																								0							SO:0001583	missense			ENST00000317716.9	0	1	hg19	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859843	0.32884	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.58652	0.32;0.32;1.2	5.55	0.184	0.15086	Cadherin (2);Cadherin-like (1);	0.653907	0.15506	N	0.258791	T	0.40570	0.1122	L	0.42245	1.32	0.80722	D	1	B;B	0.15141	0.006;0.012	B;B	0.11329	0.003;0.006	T	0.14980	-1.0453	10	0.10111	T	0.7	-11.2539	6.4987	0.22155	0.573:0.2928:0.1342:0.0	.	556;569	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	D	569;569;481	ENSP00000439766:N569D;ENSP00000325954:N569D;ENSP00000417771:N481D	ENSP00000325954:N569D	N	+	1	0	CDHR3	105448106	0.035000	0.19736	0.416000	0.26546	0.757000	0.42996	1.294000	0.33365	-0.213000	0.10094	-0.316000	0.08728	AAC		TCGA-IB-7651-01A-11D-2154-08	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	0	0	0	33	157	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	1	32	154	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SYPL1	6856	broad.mit.edu	37	7	105739626	105739626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105739626C>A	ENST00000011473.2	-	3	272	c.226G>T	c.(226-228)Gct>Tct	p.A76S	SYPL1_ENST00000455385.2_Missense_Mutation_p.A58S|SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1			7					CCAAAAGTAGCTGTAACAGTT	0.348000																								0							SO:0001583	missense			ENST00000011473.2	1	1	hg19	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196287	0.78902	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.33438	1.43;1.41;1.45	5.08	5.08	0.68730	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.84326	2.69	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.64550	-0.6381	10	0.72032	D	0.01	-1.3006	17.6082	0.88045	0.0:1.0:0.0:0.0	.	76	Q16563	SYPL1_HUMAN	S	58;76;58	ENSP00000388336:A58S;ENSP00000011473:A76S;ENSP00000419070:A58S	ENSP00000011473:A76S	A	-	1	0	SYPL1	105526862	1.000000	0.71417	0.995000	0.50966	0.597000	0.36814	4.100000	0.57762	2.525000	0.85131	0.557000	0.71058	GCT		TCGA-IB-7651-01A-11D-2154-08	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1	0	0	0	13	488	0	141	1	9.993085e-01	22	448	0	141	2		0	0	0	0	0	2	1	9.994784e-01	13	478	0	140	2								-3.110971	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.320000	0.170000	1.000000	0.300000	0.363860	0.320000	0	2.300000e-01	4.300000e-01
PIK3CG	5294	broad.mit.edu	37	7	106508946	106508946	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106508946G>A	ENST00000359195.3	+	2	1250	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma			132					TCCAGACCCGGCCCTAGACGA	0.592000																								0							SO:0001583	missense			ENST00000359195.3	1	1	hg19	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	0.817	-0.749916	0.03041	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70164	-0.46;-0.46;-0.46	5.75	5.75	0.90469	.	0.461354	0.26328	N	0.025014	T	0.46249	0.1383	N	0.24115	0.695	0.09310	N	0.999997	B	0.12630	0.006	B	0.10450	0.005	T	0.23297	-1.0192	10	0.14656	T	0.56	-25.7248	6.0442	0.19750	0.1118:0.0:0.7036:0.1846	.	314	P48736	PK3CG_HUMAN	T	314	ENSP00000392258:A314T;ENSP00000419260:A314T;ENSP00000352121:A314T	ENSP00000352121:A314T	A	+	1	0	PIK3CG	106296182	0.972000	0.33761	0.932000	0.37286	0.058000	0.15608	5.320000	0.65841	2.714000	0.92807	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	1	0	0	20	334	0	77	0	4.530036e-01	0	26	0	77	2		0	0	0	0	0	2	1	7.268323e-01	19	328	1	72	17								-19.995680	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.680000	0.420000	1.000000	0.660000	0.704504	0.680000	0	5.400000e-01	8.700000e-01
PIK3CG	5294	broad.mit.edu	37	7	106513018	106513018	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513018G>A	ENST00000359195.3	+	3	2342	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma			132					TAGCGCCCTTGCCAGATTTCT	0.393000																								0							SO:0001583	missense			ENST00000359195.3	1	1	hg19	CCDS5739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.301109	0.95601	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.65178	-0.14;-0.14;-0.14	5.62	5.62	0.85841	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.260360	0.44097	D	0.000491	T	0.67325	0.2881	L	0.55834	1.745	0.53005	D	0.999962	P	0.40875	0.731	P	0.50570	0.644	T	0.61103	-0.7130	10	0.25106	T	0.35	-13.3468	14.8206	0.70070	0.0:0.0:0.856:0.144	.	678	P48736	PK3CG_HUMAN	T	678	ENSP00000392258:A678T;ENSP00000419260:A678T;ENSP00000352121:A678T	ENSP00000352121:A678T	A	+	1	0	PIK3CG	106300254	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.420000	0.80191	2.809000	0.96659	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	0	0	1	123	518	0	146	1	9.992776e-01	2	45	0	146	2		0	0	0	0	0	2	1	1	124	505	0	145	2								-20.000000	1	0	121412	1	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIK3CG	5294	broad.mit.edu	37	7	106513208	106513208	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513208C>T	ENST00000359195.3	+	4	2422	c.2112C>T	c.(2110-2112)gcC>gcT	p.A704A	PIK3CG_ENST00000496166.1_Silent_p.A704A|PIK3CG_ENST00000440650.2_Silent_p.A704A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma			132					GTGAGATAGCCCAGTCCAGAC	0.448000																								0							SO:0001819	synonymous_variant			ENST00000359195.3	1	1	hg19	CCDS5739.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	1	0	1	67	341	0	87	0	9.542640e-01	0	28	0	87	2		0	0	0	0	0	2	1	1	67	335	0	87	2								-3.158706	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKAR2B	5577	broad.mit.edu	37	7	106762403	106762403	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106762403C>T	ENST00000265717.4	+	3	609	c.350C>T	c.(349-351)gCa>gTa	p.A117V	CTA-360L10.1_ENST00000494849.1_RNA|PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta			14					ATAGTATGTGCAGAAGCTTAT	0.299000																								0							SO:0001583	missense			ENST00000265717.4	1	1	hg19	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507675	0.85282	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.84442	-1.85	5.25	5.25	0.73442	.	0.050938	0.85682	D	0.000000	D	0.90913	0.7144	M	0.77616	2.38	0.49130	D	0.999756	D	0.76494	0.999	P	0.59115	0.852	D	0.91996	0.5607	10	0.87932	D	0	-21.0737	16.1148	0.81301	0.0:1.0:0.0:0.0	.	117	P31323	KAP3_HUMAN	V	117;117;104	ENSP00000265717:A117V	ENSP00000265717:A117V	A	+	2	0	PRKAR2B	106549639	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.620000	0.67736	2.608000	0.88229	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1	1	0	1	34	177	0	40	1	9.917663e-01	4	38	0	40	2		0	0	0	0	0	2	1	1	33	175	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
HBP1	26959	broad.mit.edu	37	7	106820368	106820368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106820368G>A	ENST00000222574.4	+	2	216	c.30G>A	c.(28-30)atG>atA	p.M10I	HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1			10					CAAATCAGATGCCTAATGCAG	0.413000																								0							SO:0001583	missense			ENST00000222574.4	1	1	hg19	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222338	0.39300	.	.	ENSG00000105856	ENST00000468410;ENST00000478930;ENST00000464009;ENST00000222574;ENST00000468401;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99051	-5.37;-5.37;-5.37	5.92	5.92	0.95590	.	0.152031	0.64402	D	0.000014	D	0.97188	0.9081	N	0.24115	0.695	0.48185	D	0.9996	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.19666	0.026;0.005;0.026	D	0.93205	0.6595	10	0.72032	D	0.01	-5.92	20.3214	0.98679	0.0:0.0:1.0:0.0	.	20;10;10	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	I	10;10;10;10;10;10;10;10;2	ENSP00000420500:M10I;ENSP00000222574:M10I;ENSP00000418738:M10I	ENSP00000222574:M10I	M	+	3	0	HBP1	106607604	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.194000	0.65125	2.804000	0.96469	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	1	0	0	40	517	0	100	1	9.967909e-01	11	102	0	100	2		0	0	0	0	0	2	1	1	40	510	0	99	2								-9.481105	1	1	121412	1	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.850000	0.620000	1.000000	1.000000	0.858408	0.850000	1	7.300000e-01	1
DUS4L	11062	broad.mit.edu	37	7	107214206	107214206	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107214206C>T	ENST00000265720.3	+	5	658	c.296C>T	c.(295-297)gCt>gTt	p.A99V	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)			8					TTATCTGATGCTGCTCGTATA	0.378000																								0							SO:0001583	missense			ENST00000265720.3	1	1	hg19	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142670	0.94560	.	.	ENSG00000105865	ENST00000265720	T	0.38722	1.12	5.98	5.08	0.68730	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.71560	-0.4556	10	0.49607	T	0.09	.	16.3562	0.83236	0.133:0.867:0.0:0.0	.	99	O95620	DUS4L_HUMAN	V	99	ENSP00000265720:A99V	ENSP00000265720:A99V	A	+	2	0	DUS4L	107001442	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	1.473000	0.48159	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	1	0	1	182	849	0	197	1	8.902723e-01	2	18	0	197	2		0	0	0	0	0	2	1	1	177	828	0	196	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A4	5172	broad.mit.edu	37	7	107315528	107315528	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107315528T>C	ENST00000265715.3	+	6	963	c.739T>C	c.(739-741)Tac>Cac	p.Y247H		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4			46					AACCAAAAACTACAATGGAGT	0.433000									Pendred syndrome															0							SO:0001583	missense	Familial Cancer Database	Goiter-Deafness syndrome	ENST00000265715.3	1	1	hg19	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	T	9.514	1.106534	0.20632	.	.	ENSG00000091137	ENST00000265715	D	0.92348	-3.02	5.59	4.45	0.53987	Sulphate transporter (1);	0.148487	0.46442	N	0.000296	T	0.78413	0.4279	N	0.03304	-0.355	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.70450	-0.4868	10	0.05721	T	0.95	.	11.2381	0.48953	0.0:0.0715:0.0:0.9284	.	247	O43511	S26A4_HUMAN	H	247	ENSP00000265715:Y247H	ENSP00000265715:Y247H	Y	+	1	0	SLC26A4	107102764	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.179000	0.42528	0.968000	0.38212	0.528000	0.53228	TAC		TCGA-IB-7651-01A-11D-2154-08	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	1	0	1	138	665	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1	137	647	0	129	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A4	5172	broad.mit.edu	37	7	107341615	107341615	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107341615A>C	ENST00000265715.3	+	16	2001	c.1777A>C	c.(1777-1779)Aaa>Caa	p.K593Q	SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q|SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4			46					GAAACTAATAAAAAGTGGACA	0.338000									Pendred syndrome															0							SO:0001583	missense	Familial Cancer Database	Goiter-Deafness syndrome	ENST00000265715.3	1	1	hg19	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884273	0.51908	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95656	-3.35;-3.71;-3.77;-3.76	5.72	4.55	0.56014	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.054607	0.64402	N	0.000001	D	0.94614	0.8264	M	0.69185	2.1	0.38988	D	0.959096	B;B;B	0.30793	0.251;0.295;0.046	B;B;B	0.37943	0.141;0.237;0.261	D	0.92680	0.6157	10	0.33141	T	0.24	.	13.0168	0.58762	0.8651:0.1348:0.0:0.0	.	154;180;593	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Q	593;154;180;162	ENSP00000265715:K593Q;ENSP00000439743:K154Q;ENSP00000437427:K180Q;ENSP00000441209:K162Q	ENSP00000265715:K593Q	K	+	1	0	SLC26A4	107128851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.690000	0.68241	0.987000	0.38709	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	1	0	0	12	265	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	9.990541e-01	12	259	0	76	2								-14.037990	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.530000	0.280000	1.000000	0.500000	0.567341	0.530000	0	3.900000e-01	7.300000e-01
CBLL1	79872	broad.mit.edu	37	7	107399574	107399574	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107399574C>A	ENST00000440859.3	+	6	1894	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase			21					ACCCCACTTCCTGGACCACAT	0.463000																								0							SO:0001583	missense			ENST00000440859.3	1	1	hg19	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	c	16.90	3.250236	0.59212	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000417616	T;T	0.37411	1.2;1.2	5.15	4.26	0.50523	.	0.057309	0.64402	D	0.000001	T	0.43787	0.1263	L	0.56769	1.78	0.24350	N	0.99493	D;D	0.53885	0.963;0.963	P;P	0.49140	0.601;0.601	T	0.40794	-0.9544	10	0.87932	D	0	-1.7142	13.4661	0.61254	0.0:0.9239:0.0:0.0761	.	475;476	B7ZM03;Q75N03	.;HAKAI_HUMAN	H	476;355;475;267	ENSP00000401277:P476H;ENSP00000222597:P475H	ENSP00000222597:P475H	P	+	2	0	CBLL1	107186810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	1.172000	0.42781	0.441000	0.28932	CCT		TCGA-IB-7651-01A-11D-2154-08	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	1	0	1	123	566	0	136	1	9.999998e-01	28	73	0	136	2		0	0	0	0	0	2	1	1	122	548	0	135	2								-2.782097	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A3	1811	broad.mit.edu	37	7	107416898	107416898	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416898G>T	ENST00000340010.5	-	15	1860	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	SLC26A3_ENST00000422236.2_Splice_Site_p.A524D	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	p.A559V(1)		46					AAACCTTACAGCATCGATAAG	0.383000																								1	Substitution - Missense(1)						SO:0001630	splice_region_variant			ENST00000340010.5	1	0	hg19	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938086	0.73557	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.89123	-2.47;-2.47	5.98	5.11	0.69529	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.255061	0.44902	D	0.000418	D	0.90800	0.7111	M	0.79475	2.455	0.80722	D	1	P;P	0.50443	0.935;0.919	P;P	0.49953	0.627;0.616	D	0.89021	0.3435	10	0.17832	T	0.49	.	15.0089	0.71533	0.0679:0.0:0.9321:0.0	.	524;559	G5E9U3;P40879	.;S26A3_HUMAN	D	524;559	ENSP00000415817:A524D;ENSP00000345873:A559D	ENSP00000345873:A559D	A	-	2	0	SLC26A3	107204134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.402000	0.79972	1.550000	0.49438	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	1	0	1	45	258	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	1	44	254	0	66	2								-19.991300	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416977C>A	ENST00000340010.5	-	15	1781	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	p.E533K(1)		46					TTCACTCCTTCTGGCTCATAC	0.378000																								1	Substitution - Missense(1)						SO:0001587	stop_gained			ENST00000340010.5	0	1	hg19	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477904	0.96291	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	5.82	4.93	0.64822	.	0.397106	0.29948	N	0.010784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.2746	0.60180	0.0:0.8209:0.1142:0.0649	.	.	.	.	X	498;533	.	ENSP00000345873:E533X	E	-	1	0	SLC26A3	107204213	0.993000	0.37304	0.710000	0.30468	0.048000	0.14542	2.976000	0.49289	0.827000	0.34685	-1.094000	0.02160	GAA		TCGA-IB-7651-01A-11D-2154-08	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	1	0	1	46	213	0	62	0	0	0	1	0	62	2		0	0	0	0	0	2	1	1	46	209	0	62	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A3	1811	broad.mit.edu	37	7	107423656	107423656	+	Silent	SNP	G	G	A	rs146803737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107423656G>A	ENST00000340010.5	-	9	1297	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC26A3_ENST00000422236.2_Silent_p.G336G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3			46					TTACCTGATTGCCATCAAGTG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000340010.5	1	1	hg19	CCDS5748.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	1	0	1	94	404	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	93	394	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A3	1811	broad.mit.edu	37	7	107434255	107434255	+	Missense_Mutation	SNP	C	C	T	rs10280704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107434255C>T	ENST00000340010.5	-	3	387	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R33Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3			46					TTCTTTAAGCCGGTATGCTGG	0.413000																								0							SO:0001583	missense			ENST00000340010.5	1	0	hg19	CCDS5748.1	25	0.011446886446886446	22	0.044715447154471545	3	0.008287292817679558	0	0.0	0	0.0	C	9.539	1.112823	0.20795	0.036541	0.0	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.91521	-2.86;-2.86;-2.86	5.63	-1.9	0.07665	.	0.790426	0.12345	N	0.477121	T	0.60143	0.2246	L	0.39467	1.215	0.09310	N	1	P;P	0.37083	0.468;0.581	B;B	0.34931	0.04;0.192	T	0.63274	-0.6674	10	0.36615	T	0.2	.	11.3351	0.49498	0.0:0.4682:0.0:0.5318	rs10280704;rs52833091;rs10280704	33;68	G5E9U3;P40879	.;S26A3_HUMAN	Q	33;68;68	ENSP00000415817:R33Q;ENSP00000345873:R68Q;ENSP00000395955:R68Q	ENSP00000345873:R68Q	R	-	2	0	SLC26A3	107221491	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.202000	0.09451	-0.413000	0.07507	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	1	0	1	62	265	1	48		0	0	0	1	48	2		0	0	0	0	0	2	1	1	62	260	0	48	2								-2.444571	0	1	121412	447	59	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLD	1738	broad.mit.edu	37	7	107556055	107556055	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107556055C>T	ENST00000205402.5	+	9	1070	c.789C>T	c.(787-789)cgC>cgT	p.R263R	DLD_ENST00000537148.1_Silent_p.R164R|DLD_ENST00000440410.1_Silent_p.R240R|DLD_ENST00000437604.2_Silent_p.R215R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase			20				Flavin adenine dinucleotide(DB03147)	ACTTTCAACGCATCCTTCAAA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000205402.5	0	1	hg19	CCDS5749.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	0	0	0	7	421	0	64	1	9.213742e-01	13	259	0	64	2		0	0	0	0	0	2	1	9.796243e-01	6	415	0	64	2								-3.343273	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.200000	0.080000	1.000000	0.190000	0.261372	0.200000	0	1.400000e-01	3.100000e-01
LAMB1	3912	broad.mit.edu	37	7	107569959	107569959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107569959C>T	ENST00000222399.6	-	30	4873	c.4643G>A	c.(4642-4644)cGt>cAt	p.R1548H	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1572H|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1			82					AACTCGTTCACGTATATCTTC	0.423000																								0							SO:0001583	missense			ENST00000222399.6	1	1	hg19	CCDS5750.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.45	3.626031	0.66901	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.78246	-1.16;-1.16	5.42	5.42	0.78866	Prefoldin (1);	.	.	.	.	D	0.86924	0.6050	M	0.64997	1.995	0.80722	D	1	P;D	0.89917	0.603;1.0	B;D	0.77557	0.093;0.99	D	0.85935	0.1454	9	0.48119	T	0.1	.	19.408	0.94656	0.0:1.0:0.0:0.0	.	1548;1572	P07942;G3XAI2	LAMB1_HUMAN;.	H	1572;1548	ENSP00000377191:R1572H;ENSP00000222399:R1548H	ENSP00000222399:R1548H	R	-	2	0	LAMB1	107357195	0.997000	0.39634	0.946000	0.38457	0.987000	0.75469	3.526000	0.53509	2.809000	0.96659	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	1	0	1	80	338	0	88	1	1	19	949	0	88	2		0	0	0	0	0	2	1	1	77	333	0	87	2								-20.000000	1	1	121410	4	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB1	3912	broad.mit.edu	37	7	107616323	107616323	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107616323C>A	ENST00000222399.6	-	10	1231		c.e10-1		LAMB1_ENST00000393560.1_Splice_Site|LAMB1_ENST00000393561.1_Splice_Site	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1			82					CAGTTACATTCTGCGTGACAA	0.483000																								0							SO:0001630	splice_region_variant			ENST00000222399.6	1	1	hg19	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133344	0.77662	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMB1	107403559	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.564000	0.82326	2.764000	0.94973	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	1	0	1	41	165	0	43	1	4.154398e-02	2	0	0	43	2		0	0	0	0	0	2	1	1	41	164	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB1	3912	broad.mit.edu	37	7	107626718	107626718	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107626718C>T	ENST00000222399.6	-	6	744	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T|LAMB1_ENST00000393561.1_Missense_Mutation_p.A196T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	p.A172T(1)		82					GGAAACGAGGCCTCACAGTCA	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000222399.6	1	1	hg19	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813822	0.32053	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.75367	-0.93;-0.93;-0.93	5.86	4.72	0.59763	Laminin, N-terminal (3);	.	.	.	.	T	0.52677	0.1749	N	0.04245	-0.25	0.25527	N	0.987313	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.12837	0.007;0.008;0.002	T	0.39375	-0.9617	9	0.25106	T	0.35	.	11.2059	0.48769	0.0:0.0729:0.0:0.9271	.	172;172;196	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	T	196;172;172	ENSP00000377191:A196T;ENSP00000222399:A172T;ENSP00000377190:A172T	ENSP00000222399:A172T	A	-	1	0	LAMB1	107413954	0.363000	0.24989	1.000000	0.80357	0.476000	0.33039	-0.014000	0.12656	1.051000	0.40369	-0.302000	0.09304	GCC		TCGA-IB-7651-01A-11D-2154-08	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	1	0	1	66	382	0	98	1	1	18	462	0	98	2		0	0	0	0	0	2	1	1	66	376	0	98	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB1	3912	broad.mit.edu	37	7	107638873	107638873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107638873C>A	ENST00000222399.6	-	4	508	c.278G>T	c.(277-279)aGc>aTc	p.S93I	LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I|LAMB1_ENST00000393561.1_Missense_Mutation_p.S117I|U3_ENST00000458938.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1			82					AATGAGATGGCTGTCAGGATT	0.423000																								0							SO:0001583	missense			ENST00000222399.6	1	1	hg19	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603508	0.87157	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976	T;T;T;T	0.77098	-1.03;-1.03;-1.03;-1.07	6.08	6.08	0.98989	Laminin, N-terminal (3);	.	.	.	.	D	0.90978	0.7163	M	0.89715	3.055	0.54753	D	0.99998	D;D;D;D	0.76494	0.998;0.988;0.999;0.999	D;D;D;D	0.79108	0.948;0.917;0.992;0.958	D	0.91522	0.5235	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	179;93;93;117	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	I	117;93;93;179	ENSP00000377191:S117I;ENSP00000222399:S93I;ENSP00000377190:S93I;ENSP00000412686:S179I	ENSP00000222399:S93I	S	-	2	0	LAMB1	107426109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.792000	0.55476	2.894000	0.99253	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	1	0	1	70	388	0	86	1	1	9	369	0	86	2		0	0	0	0	0	2	1	1	69	380	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB4	22798	broad.mit.edu	37	7	107677867	107677867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107677867C>T	ENST00000388781.3	-	30	4728	c.4645G>A	c.(4645-4647)Gcc>Acc	p.A1549T	LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4			97					AGCTTTTGGGCTCCATCTGCT	0.388000																								0							SO:0001583	missense			ENST00000388781.3	1	1	hg19	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204673	0.58234	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.38401	1.14;1.14;1.46;1.18	4.89	3.01	0.34805	.	0.437967	0.18968	N	0.126218	T	0.34600	0.0903	L	0.39898	1.24	0.53688	D	0.99997	P;B	0.43788	0.817;0.005	P;B	0.47864	0.559;0.006	T	0.06698	-1.0812	10	0.54805	T	0.06	.	7.4753	0.27371	0.0:0.7801:0.0:0.2199	.	1549;1549	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1549;1549;575;1549	ENSP00000205386:A1549T;ENSP00000373433:A1549T;ENSP00000416562:A575T;ENSP00000373432:A1549T	ENSP00000205386:A1549T	A	-	1	0	LAMB4	107465103	0.014000	0.17966	0.430000	0.26722	0.739000	0.42172	0.892000	0.28322	0.685000	0.31468	-0.136000	0.14681	GCC		TCGA-IB-7651-01A-11D-2154-08	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	1	0	1	147	814	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1	143	799	0	176	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB4	22798	broad.mit.edu	37	7	107706353	107706353	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107706353C>T	ENST00000388781.3	-	21	2773	c.2690G>A	c.(2689-2691)gGt>gAt	p.G897D	LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D|LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4			97					TCCATAGTAACCATCAATACA	0.418000																								0							SO:0001583	missense			ENST00000388781.3	1	1	hg19	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237985	0.79800	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.68624	-0.34;-0.34;-0.34	4.69	4.69	0.59074	EGF-like, laminin (4);	0.000000	0.52532	D	0.000073	D	0.84179	0.5415	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86918	0.2065	10	0.72032	D	0.01	.	11.6563	0.51320	0.0:0.9185:0.0:0.0815	.	897	A4D0S4	LAMB4_HUMAN	D	897	ENSP00000205386:G897D;ENSP00000373433:G897D;ENSP00000373432:G897D	ENSP00000205386:G897D	G	-	2	0	LAMB4	107493589	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.535000	0.67173	2.606000	0.88127	0.563000	0.77884	GGT		TCGA-IB-7651-01A-11D-2154-08	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	1	0	1	71	297	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	71	291	0	93	2								-20.000000	1	1	121410	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMB4	22798	broad.mit.edu	37	7	107743565	107743565	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107743565C>T	ENST00000388781.3	-	10	1187	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	LAMB4_ENST00000414450.2_Silent_p.G368G|LAMB4_ENST00000205386.4_Silent_p.G368G|LAMB4_ENST00000388780.3_Silent_p.G368G|LAMB4_ENST00000418464.1_Silent_p.G368G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4			97					CGCAGTGCTGCCCCTCAGTGT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000388781.3	1	1	hg19	CCDS34732.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	1	0	1	28	129	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	28	127	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
NRCAM	4897	broad.mit.edu	37	7	107790514	107790514	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107790514G>A	ENST00000425651.2	-	30	3755	c.3756C>T	c.(3754-3756)gaC>gaT	p.D1252D	NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000379028.3_Silent_p.D1252D|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000351718.4_Silent_p.D1131D	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule			65					CTAGGCTGTCGTCACTATCTT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000425651.2	1	1	hg19	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	3.696	-0.062504	0.07273	.	.	ENSG00000091129	ENST00000445634	.	.	.	6.17	-2.17	0.07059	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54166	-0.8334	4	.	.	.	.	11.3392	0.49523	0.6338:0.0:0.3662:0.0	.	.	.	.	M	151	.	.	T	-	2	0	NRCAM	107577750	1.000000	0.71417	0.685000	0.30070	0.909000	0.53808	1.744000	0.38268	-0.533000	0.06323	-1.105000	0.02106	ACG		TCGA-IB-7651-01A-11D-2154-08	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	1	0	1	176	728	0	158	0	8.702394e-01	0	17	0	158	2		0	0	0	0	0	2	1	1	171	709	0	158	2								-20.000000	1	1	121412	2	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRCAM	4897	broad.mit.edu	37	7	107825029	107825029	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107825029G>T	ENST00000425651.2	-	18	2064	c.2065C>A	c.(2065-2067)Cac>Aac	p.H689N	NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000379028.3_Missense_Mutation_p.H689N|NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N|NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule			65					CCTGGCTTGTGCATTGCATCT	0.502000																								0							SO:0001583	missense			ENST00000425651.2	1	1	hg19	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.213949	0.22289	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.46	4.53	0.55603	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049726	0.85682	D	0.000000	T	0.39091	0.1065	N	0.21324	0.655	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.14023	0.008;0.005;0.01;0.006;0.004	T	0.15925	-1.0420	10	0.27785	T	0.31	.	15.0261	0.71671	0.0:0.0:0.8572:0.1428	.	689;670;670;673;689	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	689;689;670;689;673;670;689;689;673	ENSP00000368314:H689N;ENSP00000407858:H670N;ENSP00000325269:H673N;ENSP00000368310:H670N;ENSP00000401244:H689N;ENSP00000368308:H689N	ENSP00000325269:H673N	H	-	1	0	NRCAM	107612265	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.734000	0.74801	2.548000	0.85928	0.591000	0.81541	CAC		TCGA-IB-7651-01A-11D-2154-08	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	1	0	1	29	136	0	34	0	7.972695e-01	0	16	0	34	2		0	0	0	0	0	2	1	1	28	132	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
NRCAM	4897	broad.mit.edu	37	7	107831702	107831702	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107831702A>C	ENST00000425651.2	-	16	1928	c.1929T>G	c.(1927-1929)gtT>gtG	p.V643V	NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000379028.3_Silent_p.V643V|NRCAM_ENST00000379022.4_Silent_p.V643V|NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000351718.4_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule			65					GTTTACCGTAAACGGGAGCTG	0.318000																								0							SO:0001819	synonymous_variant			ENST00000425651.2	1	1	hg19	CCDS47686.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	1	0	1	9	47	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.955231e-01	9	47	0	19	2								-8.376514	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.910000	1.000000	1.000000	0.994256	0.990000	1	9.900000e-01	1
PNPLA8	50640	broad.mit.edu	37	7	108128376	108128376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108128376C>A	ENST00000422087.1	-	10	2111	c.1705G>T	c.(1705-1707)Gta>Tta	p.V569L	PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V469L|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8			29					CCTCTATTTACTATGGTACTT	0.328000																								0							SO:0001583	missense			ENST00000422087.1	1	1	hg19	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373240	0.95923	.	.	ENSG00000135241	ENST00000257694;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.6	5.6	0.85130	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.56280	1.765	0.80722	D	1	P	0.52692	0.955	P	0.54060	0.741	T	0.80926	-0.1164	10	0.52906	T	0.07	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	569	Q9NP80	PLPL8_HUMAN	L	569;569;469;569;469	ENSP00000257694:V569L;ENSP00000410804:V569L;ENSP00000387789:V469L;ENSP00000406779:V569L;ENSP00000402274:V469L	ENSP00000257694:V569L	V	-	1	0	PNPLA8	107915612	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.440000	0.80464	2.630000	0.89119	0.591000	0.81541	GTA		TCGA-IB-7651-01A-11D-2154-08	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	1	0	1	56	250	0	73	1	9.999999e-01	26	87	0	73	2		0	0	0	0	0	2	1	1	56	245	0	73	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPLA8	50640	broad.mit.edu	37	7	108155556	108155556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108155556G>A	ENST00000422087.1	-	4	786	c.380C>T	c.(379-381)gCt>gTt	p.A127V	PNPLA8_ENST00000426128.2_Missense_Mutation_p.A127V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8			29					CTTAAATTGAGCTAAACGTGA	0.318000																								0							SO:0001583	missense			ENST00000422087.1	1	1	hg19	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450732	0.26074	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98120	-3.51;-4.73;-3.51;-4.73;-4.71;-4.73;-4.7	5.78	3.05	0.35203	.	0.352176	0.32190	N	0.006453	D	0.93602	0.7957	N	0.25890	0.77	0.25824	N	0.984256	B	0.12013	0.005	B	0.11329	0.006	D	0.85914	0.1442	10	0.36615	T	0.2	.	9.7728	0.40601	0.2568:0.0:0.7432:0.0	.	127	Q9NP80	PLPL8_HUMAN	V	127;127;127;127;27;127;27;127	ENSP00000394988:A127V;ENSP00000257694:A127V;ENSP00000373380:A127V;ENSP00000410804:A127V;ENSP00000387789:A27V;ENSP00000406779:A127V;ENSP00000402274:A27V	ENSP00000257694:A127V	A	-	2	0	PNPLA8	107942792	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.621000	0.46418	0.386000	0.24997	-1.019000	0.02448	GCT		TCGA-IB-7651-01A-11D-2154-08	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	1	0	0	22	263	0	62	1	9.934839e-01	13	85	0	62	2		0	0	0	0	0	2	1	9.999987e-01	22	256	0	62	2								-7.959561	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.930000	0.600000	1.000000	1.000000	0.892497	0.930000	1	7.400000e-01	1
C7orf66	154907	broad.mit.edu	37	7	108524165	108524165	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108524165G>A	ENST00000379007.2	-	2	301	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66			15					TATCCCTCATGAATTCTAGTT	0.393000																								0							SO:0001583	missense			ENST00000379007.2	1	1	hg19	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	g	6.269	0.417657	0.11870	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.84	1.97	0.26223	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.27656	0.184	B	0.32289	0.143	T	0.30119	-0.9989	7	.	.	.	.	4.4772	0.11750	0.1159:0.0:0.6639:0.2202	.	83	A4D0T2	CG066_HUMAN	Y	83	.	.	H	-	1	0	C7orf66	108311401	0.228000	0.23718	0.009000	0.14445	0.085000	0.17905	0.634000	0.24614	0.552000	0.29026	0.552000	0.68991	CAT		TCGA-IB-7651-01A-11D-2154-08	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	0	0	1	59	384	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	59	375	0	104	2								-19.999970	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
LRRN3	54674	broad.mit.edu	37	7	110762985	110762985	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:110762985G>T	ENST00000422987.3	+	2	988	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.V53L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3			55					AGCATCTACAGTGGATTGTAA	0.378000																								0							SO:0001583	missense			ENST00000422987.3	1	1	hg19	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336120	0.81801	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.52532	D	0.000068	D	0.99162	0.9710	M	0.81942	2.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99364	1.0918	10	0.44086	T	0.13	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	53	Q9H3W5	LRRN3_HUMAN	L	53	ENSP00000312001:V53L;ENSP00000397312:V53L;ENSP00000412417:V53L;ENSP00000407927:V53L	ENSP00000312001:V53L	V	+	1	0	LRRN3	110550221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.954000	0.87848	2.835000	0.97688	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	1	0	1	76	556	0	138	0	1.154953e-01	0	5	0	138	2		0	0	0	0	0	2	1	1	75	541	0	137	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
DOCK4	9732	broad.mit.edu	37	7	111379299	111379299	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111379299G>A	ENST00000437633.1	-	48	5352	c.5096C>T	c.(5095-5097)gCt>gTt	p.A1699V	DOCK4_ENST00000428084.1_Splice_Site_p.A1708V|DOCK4_ENST00000494651.2_Splice_Site_p.A582V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4			72		Acute lymphoblastic leukemia(1;0.0441)			CAAAGGAGAAGCTGGGAAGAG	0.527000																								0							SO:0001630	splice_region_variant			ENST00000437633.1	1	0	hg19	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409646|4.409646	0.83340|0.83340	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.049928|.	0.85682|.	D|.	0.000000|.	T|T	0.62877|0.62877	0.2464|0.2464	L|L	0.43152|0.43152	1.355|1.355	0.45046|0.45046	D|D	0.998063|0.998063	B;B;P;P;P;D|.	0.67145|.	0.31;0.437;0.593;0.534;0.664;0.996|.	B;B;B;B;B;P|.	0.61658|.	0.175;0.327;0.327;0.175;0.327;0.892|.	T|T	0.55976|0.55976	-0.8055|-0.8055	10|5	0.22109|.	T|.	0.4|.	.|.	16.8106|16.8106	0.85717|0.85717	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.	606;582;1744;1699;1708;12|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4|.	.;.;.;DOCK4_HUMAN;.;.|.	V|F	1687;1708;582;1699;1696|1160;1732	ENSP00000410746:A1708V;ENSP00000440944:A582V;ENSP00000404179:A1699V|.	ENSP00000345432:A1696V|.	A|L	-|-	2|1	0|0	DOCK4|DOCK4	111166535|111166535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.463000|4.463000	0.60128|0.60128	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	GCT|CTT		TCGA-IB-7651-01A-11D-2154-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1	49	231	0	66	0	9.956624e-01	0	42	0	66	2		0	0	0	0	0	2	1	1	48	226	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK4	9732	broad.mit.edu	37	7	111381614	111381614	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111381614C>A	ENST00000437633.1	-	45	5130	c.4874G>T	c.(4873-4875)aGg>aTg	p.R1625M	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1634M|DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4			72		Acute lymphoblastic leukemia(1;0.0441)			AGGAATTACCCTGGTACCATC	0.463000																								0							SO:0001583	missense			ENST00000437633.1	1	1	hg19	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869810|3.869810	0.72065|0.72065	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.08370	.|3.9;3.1;3.89	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	.|0.143180	.|0.64402	.|D	.|0.000010	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.47716|0.47716	1.5|1.5	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D;D;D;D	.|0.76494	.|0.995;0.997;0.999;0.999;0.997	.|D;D;D;D;D	.|0.71414	.|0.922;0.973;0.96;0.96;0.973	T|T	0.00677|0.00677	-1.1614|-1.1614	5|10	.|0.72032	.|D	.|0.01	.|.	14.0431|14.0431	0.64689|0.64689	0.0:0.9275:0.0:0.0724|0.0:0.9275:0.0:0.0724	.|.	.|532;508;1670;1625;1634	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	W|M	1086;1658|1613;1634;508;1625;1622	.|ENSP00000410746:R1634M;ENSP00000440944:R508M;ENSP00000404179:R1625M	.|ENSP00000345432:R1622M	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111168850|111168850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.359000|5.359000	0.66074|0.66074	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	GGG|AGG		TCGA-IB-7651-01A-11D-2154-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	0	7	95	0	26	0	6.905919e-01	1	32	0	26	2		0	0	0	0	0	2	1	9.811872e-01	7	94	0	26	2								-11.281040	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.850000	0.380000	1.000000	1.000000	0.813599	0.850000	1	5.800000e-01	1
DOCK4	9732	broad.mit.edu	37	7	111386404	111386404	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111386404G>A	ENST00000437633.1	-	43	4892	c.4636C>T	c.(4636-4638)Ctg>Ttg	p.L1546L	DOCK4_ENST00000428084.1_Silent_p.L1555L|DOCK4_ENST00000494651.2_Silent_p.L429L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4			72		Acute lymphoblastic leukemia(1;0.0441)			TCAAGCATCAGCTCTCTTAAT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000437633.1	1	1	hg19	CCDS47688.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1	13	65	0	16	1	9.959278e-01	2	49	0	16	2		0	0	0	0	0	2	1	9.996638e-01	13	64	0	15	2								-10.342310	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998592	0.990000	1	9.900000e-01	1
DOCK4	9732	broad.mit.edu	37	7	111422941	111422941	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111422941A>G	ENST00000437633.1	-	34	3793	c.3537T>C	c.(3535-3537)atT>atC	p.I1179I	DOCK4_ENST00000428084.1_Silent_p.I1188I|DOCK4_ENST00000494651.2_Silent_p.I62I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4			72		Acute lymphoblastic leukemia(1;0.0441)			CTGTGCAGCCAATCTTTTTGC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000437633.1	1	1	hg19	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315908	0.23908	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.42	2.95	0.34219	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51710	-0.8671	4	.	.	.	.	9.209	0.37306	0.8401:0.0:0.1599:0.0	.	.	.	.	S	640;1212	.	.	L	-	2	0	DOCK4	111210177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.018000	0.40991	0.401000	0.25424	0.455000	0.32223	TTG		TCGA-IB-7651-01A-11D-2154-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	0	79	462	0	125	0	9.060321e-01	0	26	0	125	2		0	0	0	0	0	2	1	1	79	451	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK4	9732	broad.mit.edu	37	7	111484842	111484842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111484842G>A	ENST00000437633.1	-	25	2969	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	DOCK4_ENST00000428084.1_Missense_Mutation_p.R905W	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4			72		Acute lymphoblastic leukemia(1;0.0441)			AACTGGAACCGCATTGCTGAG	0.512000																								0							SO:0001583	missense			ENST00000437633.1	1	1	hg19	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086388	0.76642	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.72505	-0.66;-0.66	6.12	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68765	0.96;0.735;0.784	D	0.84261	0.0483	10	0.62326	D	0.03	.	16.8359	0.85957	0.0:0.0:0.5766:0.4234	.	905;905;905	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	W	893;905;905;893;904	ENSP00000410746:R905W;ENSP00000404179:R905W	ENSP00000345432:R893W	R	-	1	2	DOCK4	111272078	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.935000	0.40173	0.871000	0.35750	0.644000	0.83932	CGG		TCGA-IB-7651-01A-11D-2154-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1	79	441	0	159	0	9.631332e-01	0	32	0	159	2		0	0	0	0	0	2	1	1	78	437	0	158	2								-20.000000	1	1	120956	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK4	9732	broad.mit.edu	37	7	111508079	111508079	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111508079C>T	ENST00000437633.1	-	22	2497	c.2241G>A	c.(2239-2241)tcG>tcA	p.S747S	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.S747S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4			72		Acute lymphoblastic leukemia(1;0.0441)			TGCTCTCTTGCGAAAGAAAGA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000437633.1	1	1	hg19	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707583	0.15239	0.0	1.22E-4	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64228	-0.6457	4	.	.	.	.	6.0838	0.19956	0.2955:0.1037:0.5199:0.0809	.	.	.	.	H	199;735	.	.	R	-	2	0	DOCK4	111295315	0.000000	0.05858	0.007000	0.13788	0.970000	0.65996	-2.495000	0.00971	-5.305000	0.00017	-1.517000	0.00937	CGC		TCGA-IB-7651-01A-11D-2154-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1	18	68	0	22	0	9.419253e-01	0	21	0	22	2		0	0	0	0	0	2	1	9.999917e-01	18	68	0	22	2								-13.959820	1	1	120830	19	41	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999953	0.990000	1	9.900000e-01	1
DOCK4	9732	broad.mit.edu	37	7	111575597	111575597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111575597G>A	ENST00000437633.1	-	12	1320	c.1064C>T	c.(1063-1065)gCa>gTa	p.A355V	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.A355V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4			72		Acute lymphoblastic leukemia(1;0.0441)			ACACTCACCTGCATTGGAGCC	0.408000																								0							SO:0001583	missense			ENST00000437633.1	0	1	hg19	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.66|17.66	3.443560|3.443560	0.63067|0.63067	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.03065|.	4.06;4.06|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.110120|.	0.64402|.	D|.	0.000004|.	T|.	0.52386|.	0.1731|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25955|.	0.138;0.128;0.128|.	B;B;B|.	0.29353|.	0.045;0.101;0.045|.	T|.	0.45498|.	-0.9257|.	10|.	0.19147|.	T|.	0.46|.	.|.	20.0137|20.0137	0.97470|0.97470	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355;355;355|.	A4D0S8;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	V|X	343;355;355;343;354|343	ENSP00000410746:A355V;ENSP00000404179:A355V|.	ENSP00000345432:A343V|.	A|Q	-|-	2|1	0|0	DOCK4|DOCK4	111362833|111362833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.334000|9.334000	0.96470|0.96470	2.734000|2.734000	0.93682|0.93682	0.563000|0.563000	0.77884|0.77884	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	0	0	0	10	359	0	66	0	7.465170e-02	0	15	0	66	2		0	0	0	0	0	2	1	9.964766e-01	10	348	0	65	2								-3.575300	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.330000	0.170000	1.000000	0.320000	0.382858	0.330000	0	2.400000e-01	4.800000e-01
DOCK4	9732	broad.mit.edu	37	7	111617186	111617186	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111617186C>T	ENST00000437633.1	-	8	958		c.e8+1		DOCK4_ENST00000476846.1_Splice_Site|DOCK4_ENST00000428084.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4			72		Acute lymphoblastic leukemia(1;0.0441)			CGTGCAGGTACCTGATTGGCC	0.423000																								0							SO:0001630	splice_region_variant			ENST00000437633.1	1	1	hg19	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533283	0.85812	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000544250	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111404422	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.463000	0.80869	2.527000	0.85204	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	1	0	1	14	72	0	15	0	3.064351e-02	1	1	0	15	2		0	0	0	0	0	2	1	9.998417e-01	14	72	0	15	2								-10.629780	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998763	0.990000	1	9.900000e-01	1
ZNF277	11179	broad.mit.edu	37	7	111936363	111936363	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111936363A>G	ENST00000361822.3	+	4	591	c.462A>G	c.(460-462)agA>agG	p.R154R	ZNF277_ENST00000450657.1_Silent_p.R154R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277			15					AGAAACAGAGACTGGTAAGAA	0.274000																								0							SO:0001819	synonymous_variant			ENST00000361822.3	1	1	hg19	CCDS5755.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	1	0	1	35	236	0	69	1	9.996418e-01	27	57	0	69	2		0	0	0	0	0	2	1	1	33	227	0	68	2								-16.148400	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999643	0.990000	1	9.900000e-01	1
ZNF277	11179	broad.mit.edu	37	7	111979911	111979911	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111979911T>G	ENST00000361822.3	+	10	1109	c.980T>G	c.(979-981)tTt>tGt	p.F327C	AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277			15					GCACACGAATTTGATCTTCTC	0.313000																								0							SO:0001583	missense			ENST00000361822.3	1	1	hg19	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210912	0.79240	.	.	ENSG00000198839	ENST00000361822;ENST00000421864	T;T	0.64618	-0.11;-0.11	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85404	0.1133	10	0.87932	D	0	-21.357	16.3035	0.82836	0.0:0.0:0.0:1.0	.	327	Q9NRM2	ZN277_HUMAN	C	327;38	ENSP00000354501:F327C;ENSP00000415735:F38C	ENSP00000354501:F327C	F	+	2	0	ZNF277	111767147	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.798000	0.75155	2.299000	0.77371	0.528000	0.53228	TTT		TCGA-IB-7651-01A-11D-2154-08	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	1	0	1	55	297	0	81	1	9.999856e-01	17	73	0	81	2		0	0	0	0	0	2	1	1	54	291	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFRD1	3475	broad.mit.edu	37	7	112095820	112095820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095820G>A	ENST00000403825.3	+	2	358	c.97G>A	c.(97-99)Ggc>Agc	p.G33S	IFRD1_ENST00000535603.1_5'UTR|IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1			15					CCTAATAGGTGGCCAGCATCG	0.338000																								0							SO:0001583	missense			ENST00000403825.3	1	1	hg19	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015458	0.93404	.	.	ENSG00000006652	ENST00000005558;ENST00000445335;ENST00000403825;ENST00000429071	T;T	0.46451	0.87;0.87	5.06	5.06	0.68205	.	0.094278	0.64402	D	0.000001	T	0.27134	0.0665	N	0.08118	0	0.80722	D	1	P;B	0.48294	0.908;0.141	B;B	0.41374	0.355;0.057	T	0.08994	-1.0695	10	0.29301	T	0.29	-17.5418	18.7821	0.91937	0.0:0.0:1.0:0.0	.	33;33	C9JA65;O00458	.;IFRD1_HUMAN	S	33	ENSP00000005558:G33S;ENSP00000384477:G33S	ENSP00000005558:G33S	G	+	1	0	IFRD1	111883056	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.316000	0.79007	2.506000	0.84524	0.460000	0.39030	GGC		TCGA-IB-7651-01A-11D-2154-08	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	1	0	0	68	360	0	61	1	9.993722e-01	9	51	0	61	2		0	0	0	0	0	2	1	1	68	353	0	59	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFRD1	3475	broad.mit.edu	37	7	112095877	112095877	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095877A>T	ENST00000403825.3	+	2	415	c.154A>T	c.(154-156)Agc>Tgc	p.S52C	IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C|IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1			15					TGAAACAATGAGCCATTGCAG	0.358000																								0							SO:0001583	missense			ENST00000403825.3	1	1	hg19	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851288	0.91355	.	.	ENSG00000006652	ENST00000005558;ENST00000443101;ENST00000445335;ENST00000403825;ENST00000429071;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T	0.60171	0.21;0.21;0.43	5.06	5.06	0.68205	Interferon-related developmental regulator, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.85462	2.755	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.947;1.0	T	0.82657	-0.0349	10	0.87932	D	0	-21.3305	15.0963	0.72238	1.0:0.0:0.0:0.0	.	52;52	C9JA65;O00458	.;IFRD1_HUMAN	C	52;2;52;52;52;2;2;2	ENSP00000005558:S52C;ENSP00000384477:S52C;ENSP00000439188:S2C	ENSP00000005558:S52C	S	+	1	0	IFRD1	111883113	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.622000	0.90953	2.026000	0.59711	0.377000	0.23210	AGC		TCGA-IB-7651-01A-11D-2154-08	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	1	0	1	71	405	0	76	1	9.998663e-01	13	63	0	76	2		0	0	0	0	0	2	1	1	71	396	0	73	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFRD1	3475	broad.mit.edu	37	7	112112901	112112901	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112112901T>G	ENST00000403825.3	+	11	1512	c.1251T>G	c.(1249-1251)atT>atG	p.I417M	IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M|IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1			15					CGATGAAGATTTCTCGTTTCG	0.373000																								0							SO:0001583	missense			ENST00000403825.3	1	1	hg19	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.411736	0.62399	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.81	2.13	0.27403	Interferon-related developmental regulator, C-terminal (1);	0.103669	0.64402	D	0.000003	T	0.56863	0.2014	M	0.66939	2.045	0.38321	D	0.943524	D;D	0.63880	0.993;0.993	D;D	0.72982	0.979;0.979	T	0.58216	-0.7675	10	0.72032	D	0.01	-32.4626	1.1524	0.01789	0.1586:0.223:0.1187:0.4997	.	417;417	A4D0U1;O00458	.;IFRD1_HUMAN	M	417;417;152;367;80	ENSP00000005558:I417M;ENSP00000384477:I417M;ENSP00000439188:I367M;ENSP00000435635:I80M	ENSP00000005558:I417M	I	+	3	3	IFRD1	111900137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.651000	0.24873	0.129000	0.18514	0.519000	0.50382	ATT		TCGA-IB-7651-01A-11D-2154-08	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	1	0	0	43	377	0	77	1	9.999936e-01	8	148	0	77	2		0	0	0	0	0	2	1	1	42	368	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.890000	1.000000	1.000000	0.993602	0.990000	1	9.900000e-01	1
TMEM168	64418	broad.mit.edu	37	7	112423788	112423788	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112423788G>A	ENST00000312814.6	-	2	1653	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168			32					GCTGTTGCAAGAAGACTAAAG	0.413000																								0							SO:0001583	missense			ENST00000312814.6	1	1	hg19	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016265	0.19355	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	6.07	5.17	0.71159	.	0.175518	0.51477	D	0.000081	T	0.45418	0.1341	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38308	-0.9667	9	0.37606	T	0.19	-12.9641	7.6742	0.28476	0.0658:0.1217:0.6864:0.1262	.	365	Q9H0V1	TM168_HUMAN	F	365;365;5;17	.	ENSP00000323068:L365F	L	-	1	0	TMEM168	112211024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.901000	0.28445	1.513000	0.48852	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	1	0	1	119	517	0	138	1	9.999920e-01	22	52	0	138	2		0	0	0	0	0	2	1	1	117	506	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM168	64418	broad.mit.edu	37	7	112424589	112424589	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112424589A>G	ENST00000312814.6	-	2	852	c.292T>C	c.(292-294)Tgg>Cgg	p.W98R	TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168			32					AATCCAAACCAAAGATTGGAG	0.323000																								0							SO:0001583	missense			ENST00000312814.6	1	1	hg19	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101989	0.56183	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	L	0.58101	1.795	0.80722	D	1	D	0.58268	0.982	P	0.55545	0.778	T	0.71397	-0.4605	9	0.72032	D	0.01	-11.3609	16.6245	0.84952	1.0:0.0:0.0:0.0	.	98	Q9H0V1	TM168_HUMAN	R	98	.	ENSP00000323068:W98R	W	-	1	0	TMEM168	112211825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.517000	0.81783	2.323000	0.78572	0.528000	0.53228	TGG		TCGA-IB-7651-01A-11D-2154-08	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	1	0	1	34	192	0	77	1	9.980145e-01	26	31	0	77	2		0	0	0	0	0	2	1	1	34	188	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
PPP1R3A	5506	broad.mit.edu	37	7	113519452	113519452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519452C>T	ENST00000284601.3	-	4	1763	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A			121					GTTCGCTCAGCAGAGTAGCCA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000284601.3	1	1	hg19	CCDS5759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	1	70	413	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	69	408	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R3A	5506	broad.mit.edu	37	7	113519685	113519685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519685C>A	ENST00000284601.3	-	4	1530	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A			121					GAATGGAAATCTCTTCGTAAA	0.363000																								0							SO:0001583	missense			ENST00000284601.3	1	1	hg19	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477870	0.26511	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.48836	1.96;0.8	5.24	4.33	0.51752	.	0.721310	0.12943	N	0.426442	T	0.65439	0.2691	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.55283	-0.8165	10	0.87932	D	0	-2.0215	10.4417	0.44469	0.0:0.9061:0.0:0.0939	.	488	Q16821	PPR3A_HUMAN	Y	488;167	ENSP00000284601:D488Y;ENSP00000401278:D167Y	ENSP00000284601:D488Y	D	-	1	0	PPP1R3A	113306921	0.014000	0.17966	0.154000	0.22540	0.016000	0.09150	1.226000	0.32563	1.144000	0.42321	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	1	40	217	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	40	216	0	41	2								-19.913900	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
PPP1R3A	5506	broad.mit.edu	37	7	113522121	113522121	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113522121T>C	ENST00000284601.3	-	3	1007	c.939A>G	c.(937-939)gaA>gaG	p.E313E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A			121					TTTCATTATGTTCATCATGTT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000284601.3	1	1	hg19	CCDS5759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	0	31	446	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	31	442	0	95	2								-7.349473	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.780000	0.530000	1.000000	1.000000	0.791037	0.780000	0	6.400000e-01	9.500000e-01
THSD7A	221981	broad.mit.edu	37	7	11415430	11415430	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11415430G>A	ENST00000423059.4	-	28	5216	c.4965C>T	c.(4963-4965)gcC>gcT	p.A1655A	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A			113					GTTACATGTCGGCATCTCCAT	0.408000										HNSCC(18;0.044)														0							SO:0001819	synonymous_variant			ENST00000423059.4	1	1	hg19	CCDS47543.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	0	0	0	48	449	1	110	0	1.462360e-01	0	7	1	110	2		0	0	0	0	0	2	1	9.999898e-01	47	439	1	110	16								-2.744762	1	1	120806	8	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.988490	0.990000	1	9.900000e-01	1
FOXP2	93986	broad.mit.edu	37	7	114282577	114282577	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114282577C>A	ENST00000393494.2	+	7	1167	c.888C>A	c.(886-888)tcC>tcA	p.S296S	FOXP2_ENST00000393500.3_Silent_p.S221S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000390668.3_Silent_p.S320S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000393489.3_Silent_p.S204S			O15409	FOXP2_HUMAN	forkhead box P2			52					CTAACAATTCCTCCTCGACTA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000393494.2	1	1	hg19	CCDS5760.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	0	0	1	51	437	1	98	0	2.878516e-01	0	10	1	98	2		0	0	0	0	0	2	1	9.999950e-01	49	431	1	97	17								-3.318794	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.940000	1.000000	1.000000	0.996625	0.990000	1	9.900000e-01	1
THSD7A	221981	broad.mit.edu	37	7	11446998	11446998	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11446998G>T	ENST00000423059.4	-	20	4102	c.3851C>A	c.(3850-3852)cCt>cAt	p.P1284H	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A			113					ACAGTTCACAGGGCATTCCAC	0.458000										HNSCC(18;0.044)														0							SO:0001583	missense			ENST00000423059.4	0	1	hg19	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869879	0.91587	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.62788	-0.0	5.37	5.37	0.77165	.	0.048208	0.85682	D	0.000000	T	0.76421	0.3985	M	0.71581	2.175	0.80722	D	1	D	0.53619	0.961	P	0.57548	0.823	T	0.78804	-0.2060	10	0.87932	D	0	.	19.518	0.95171	0.0:0.0:1.0:0.0	.	1284	Q9UPZ6	THS7A_HUMAN	H	1284	ENSP00000406482:P1284H	ENSP00000262042:P1284H	P	-	2	0	THSD7A	11413523	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.680000	0.98651	2.679000	0.91253	0.585000	0.79938	CCT		TCGA-IB-7651-01A-11D-2154-08	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	0	10	125	0	24	0	8.138490e-02	0	6	0	24	2		0	0	0	0	0	2	1	9.965094e-01	10	119	0	23	2								-2.880687	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.900000	0.460000	1.000000	1.000000	0.855096	0.900000	1	6.600000e-01	1
THSD7A	221981	broad.mit.edu	37	7	11457220	11457220	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11457220T>G	ENST00000423059.4	-	17	3645	c.3394A>C	c.(3394-3396)Aat>Cat	p.N1132H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A			113					TCTGCTGTATTCTGCATGCAT	0.418000										HNSCC(18;0.044)														0							SO:0001583	missense			ENST00000423059.4	1	1	hg19	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213011	0.79352	0.0	1.22E-4	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60672	0.17	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.81239	2.535	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	T	0.76955	-0.2767	10	0.39692	T	0.17	.	15.3575	0.74440	0.0:0.0:0.0:1.0	.	1132	Q9UPZ6	THS7A_HUMAN	H	1132	ENSP00000406482:N1132H	ENSP00000262042:N1132H	N	-	1	0	THSD7A	11423745	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.031000	0.88826	2.038000	0.60285	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	1	31	190	0	58	0	3.221423e-01	0	8	0	58	2		0	0	0	0	0	2	1	1	31	188	0	58	2								-15.660340	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999831	0.990000	1	9.900000e-01	1
MDFIC	29969	broad.mit.edu	37	7	114655944	114655944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114655944C>A	ENST00000393486.1	+	5	1286	c.696C>A	c.(694-696)tgC>tgA	p.C232*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.C341*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing			8					CATCAGACTGCTTGGAAATCT	0.403000																								0							SO:0001587	stop_gained			ENST00000393486.1	0	1	hg19	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466091	0.96257	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.64	2.07	0.26955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2707	8.9423	0.35738	0.0:0.3193:0.0:0.6807	.	.	.	.	X	341;232	.	ENSP00000257724:C341X	C	+	3	2	MDFIC	114443180	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	1.336000	0.33850	0.117000	0.18138	-0.471000	0.05019	TGC		TCGA-IB-7651-01A-11D-2154-08	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	0	0	0	160	726	1	154	1	9.999995e-01	9	122	1	154	5		0	0	0	0	0	2	1	1	156	712	1	153	19								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFEC	22797	broad.mit.edu	37	7	115580909	115580909	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580909A>G	ENST00000265440.7	-	8	920	c.740T>C	c.(739-741)gTc>gCc	p.V247A	TFEC_ENST00000457268.1_Missense_Mutation_p.V180A|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.V218A	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC			25			STAD - Stomach adenocarcinoma(10;0.00878)		CTGTTTGGTGACATGAGCACC	0.468000																								0							SO:0001583	missense			ENST00000265440.7	1	1	hg19	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042192	0.35989	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.64803	-0.12;-0.12;-0.12	5.04	3.86	0.44501	.	0.308377	0.35378	N	0.003250	T	0.54498	0.1862	L	0.48877	1.53	0.42132	D	0.991472	B;B	0.32302	0.359;0.363	B;B	0.37601	0.108;0.254	T	0.50224	-0.8853	10	0.18710	T	0.47	-0.6008	11.2959	0.49277	0.924:0.0:0.076:0.0	.	218;247	O14948-2;O14948	.;TFEC_HUMAN	A	247;180;218	ENSP00000265440:V247A;ENSP00000387650:V180A;ENSP00000318676:V218A	ENSP00000265440:V247A	V	-	2	0	TFEC	115368145	1.000000	0.71417	0.906000	0.35671	0.899000	0.52679	3.858000	0.55979	2.012000	0.59069	0.528000	0.53228	GTC		TCGA-IB-7651-01A-11D-2154-08	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	1	0	1	96	499	0	141	0	9.821280e-01	0	35	0	141	2		0	0	0	0	0	2	1	1	94	487	0	139	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFEC	22797	broad.mit.edu	37	7	115582018	115582018	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115582018T>G	ENST00000265440.7	-	7	772	c.592A>C	c.(592-594)Aga>Cga	p.R198R	TFEC_ENST00000457268.1_Silent_p.R131R|TFEC_ENST00000484212.1_Silent_p.R288R|TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000320239.7_Silent_p.R169R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC			25			STAD - Stomach adenocarcinoma(10;0.00878)		TCTCGGGCTCTCTGTTGTTCT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000265440.7	1	1	hg19	CCDS5762.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	1	0	0	148	612	0	117	0	9.985213e-01	0	42	0	117	2		0	0	0	0	0	2	1	1	145	593	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFEC	22797	broad.mit.edu	37	7	115614303	115614303	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115614303T>C	ENST00000265440.7	-	3	368	c.188A>G	c.(187-189)gAc>gGc	p.D63G	TFEC_ENST00000484212.1_Missense_Mutation_p.D153G|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC			25			STAD - Stomach adenocarcinoma(10;0.00878)		CTCAATAACGTCCTCCATCTA	0.343000																								0							SO:0001583	missense			ENST00000265440.7	0	1	hg19	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784714	0.49997	.	.	ENSG00000105967	ENST00000265440;ENST00000484212	T;T	0.27890	1.64;1.98	4.58	4.58	0.56647	.	0.287515	0.36740	N	0.002438	T	0.30230	0.0758	L	0.58354	1.805	0.80722	D	1	P;B	0.34662	0.462;0.084	B;B	0.31614	0.133;0.034	T	0.19647	-1.0299	10	0.87932	D	0	-4.0654	12.5214	0.56060	0.0:0.0:0.0:1.0	.	153;63	B7Z757;O14948	.;TFEC_HUMAN	G	63;153	ENSP00000265440:D63G;ENSP00000417432:D153G	ENSP00000265440:D63G	D	-	2	0	TFEC	115401539	0.938000	0.31826	0.999000	0.59377	0.999000	0.98932	4.776000	0.62354	1.705000	0.51264	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	0	0	0	6	298	0	44	0	8.063528e-02	0	20	0	44	2		0	0	0	0	0	2	1	9.646655e-01	6	296	0	44	2								-7.082512	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.250000	0.100000	1.000000	0.230000	0.307433	0.250000	0	1.600000e-01	3.900000e-01
THSD7A	221981	broad.mit.edu	37	7	11630195	11630195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11630195C>T	ENST00000423059.4	-	4	1596	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A			113					GTCTGGTTGCCGCGCCTCTTG	0.557000										HNSCC(18;0.044)														0							SO:0001583	missense			ENST00000423059.4	1	1	hg19	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	9.614	1.132081	0.21041	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.57107	0.42	5.8	4.91	0.64330	.	0.138816	0.64402	D	0.000003	T	0.26846	0.0657	N	0.04297	-0.235	0.47778	D	0.999515	B	0.06786	0.001	B	0.04013	0.001	T	0.16958	-1.0385	10	0.05525	T	0.97	.	14.2875	0.66256	0.0:0.9292:0.0:0.0708	.	449	Q9UPZ6	THS7A_HUMAN	S	449	ENSP00000406482:G449S	ENSP00000262042:G449S	G	-	1	0	THSD7A	11596720	0.771000	0.28555	0.457000	0.27056	0.876000	0.50452	2.212000	0.42835	2.748000	0.94277	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	1	40	196	0	42	0	4.114425e-01	0	8	0	42	2		0	0	0	0	0	2	1	1	39	192	0	42	2								-3.136340	1	1	120918	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
THSD7A	221981	broad.mit.edu	37	7	11632901	11632901	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11632901A>C	ENST00000423059.4	-	3	1502	c.1251T>G	c.(1249-1251)gaT>gaG	p.D417E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A			113					GGACAACTCCATCTCCTTGAG	0.443000										HNSCC(18;0.044)														0							SO:0001583	missense			ENST00000423059.4	1	1	hg19	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.406718	0.01155	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58652	0.32	5.41	0.0744	0.14395	.	0.089564	0.85682	N	0.000000	T	0.30792	0.0776	N	0.20445	0.575	0.41229	D	0.986567	B	0.02656	0.0	B	0.11329	0.006	T	0.31166	-0.9953	10	0.02654	T	1	.	6.6762	0.23095	0.5439:0.1212:0.3349:0.0	.	417	Q9UPZ6	THS7A_HUMAN	E	417	ENSP00000406482:D417E	ENSP00000262042:D417E	D	-	3	2	THSD7A	11599426	0.000000	0.05858	0.185000	0.23176	0.032000	0.12392	-0.361000	0.07612	-0.210000	0.10140	-0.361000	0.07541	GAT		TCGA-IB-7651-01A-11D-2154-08	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	1	49	178	0	37	0	4.841466e-02	0	2	0	37	2		0	0	0	0	0	2	1	1	47	176	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MET	4233	broad.mit.edu	37	7	116339490	116339490	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116339490A>C	ENST00000318493.6	+	2	539	c.352A>C	c.(352-354)Atg>Ctg	p.M118L	MET_ENST00000436117.2_Missense_Mutation_p.M118L|MET_ENST00000397752.3_Missense_Mutation_p.M118L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase			233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		TAACATCAACATGGCTCTAGT	0.488000			Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)						Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0							SO:0001583	missense	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	ENST00000318493.6	1	1	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696168	0.30052	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.6	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.222698	0.52532	N	0.000069	T	0.08670	0.0215	M	0.70275	2.135	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.003;0.001;0.003;0.001;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17979	0.004;0.012;0.012;0.012;0.012;0.012;0.02;0.012;0.014;0.004;0.012;0.006;0.006	T	0.04053	-1.0981	10	0.42905	T	0.14	.	12.7796	0.57469	0.8516:0.1484:0.0:0.0	.	118;118;118;118;118;118;118;118;118;118;118;118;118	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	L	137;137;118;118;118	ENSP00000413857:M137L;ENSP00000380860:M118L;ENSP00000317272:M118L;ENSP00000410980:M118L	ENSP00000317272:M118L	M	+	1	0	MET	116126726	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.132000	0.50523	1.059000	0.40554	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	0	0	1	22	534	0	130	1	9.812539e-01	21	136	0	130	2		0	0	0	0	0	2	1	9.999985e-01	21	525	0	129	2								-19.913480	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.470000	0.300000	1.000000	0.460000	0.512464	0.470000	0	3.800000e-01	6.100000e-01
MET	4233	broad.mit.edu	37	7	116340022	116340022	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116340022C>A	ENST00000318493.6	+	2	1071	c.884C>A	c.(883-885)cCt>cAt	p.P295H	MET_ENST00000436117.2_Missense_Mutation_p.P295H|MET_ENST00000397752.3_Missense_Mutation_p.P295H			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase			233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		ATGGAAATGCCTCTGGAGTGT	0.428000			Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)						Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0							SO:0001583	missense	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	ENST00000318493.6	1	1	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713994	0.30413	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.10860	2.83;2.83;2.83	6.17	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100208	0.64402	D	0.000001	T	0.42494	0.1205	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.954;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.55029	-0.8204	10	0.72032	D	0.01	.	17.0009	0.86381	0.1285:0.8715:0.0:0.0	.	295;295;295;295;295;295;295;295;295;295;295;295;295	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	H	295	ENSP00000380860:P295H;ENSP00000317272:P295H;ENSP00000410980:P295H	ENSP00000317272:P295H	P	+	2	0	MET	116127258	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	5.637000	0.67854	1.606000	0.50161	-0.182000	0.12963	CCT		TCGA-IB-7651-01A-11D-2154-08	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1	97	437	0	119	1	1	54	73	0	119	2		0	0	0	0	0	2	1	1	96	428	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MET	4233	broad.mit.edu	37	7	116381004	116381004	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116381004C>T	ENST00000318493.6	+	5	1813	c.1626C>T	c.(1624-1626)caC>caT	p.H542H	MET_ENST00000436117.2_Silent_p.H542H|MET_ENST00000397752.3_Silent_p.H542H|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase			233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		GCTGGTGCCACGACAAATGTG	0.522000			Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)						Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	ENST00000318493.6	1	1	hg19	CCDS47689.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	0	114	476	0	132	1	1	74	142	0	132	2		0	0	0	0	0	2	1	1	111	461	0	130	2								-20.000000	1	1	120870	2	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MET	4233	broad.mit.edu	37	7	116403139	116403139	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116403139T>C	ENST00000318493.6	+	11	2641	c.2454T>C	c.(2452-2454)tgT>tgC	p.C818C	MET_ENST00000397752.3_Silent_p.C800C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase			233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		AGATAATCTGTTGTACCACTC	0.408000			Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)						Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	ENST00000318493.6	1	1	hg19	CCDS47689.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1	87	360	0	99	1	1	87	134	0	99	2		0	0	0	0	0	2	1	1	85	356	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MET	4233	broad.mit.edu	37	7	116411905	116411905	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116411905C>A	ENST00000318493.6	+	14	3131	c.2944C>A	c.(2944-2946)Ctg>Atg	p.L982M	MET_ENST00000397752.3_Missense_Mutation_p.L964M			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		GTTTTAAGATCTGGGCAGTGA	0.458000			Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)						Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	5	Deletion - In frame(4)|Unknown(1)						SO:0001583	missense	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	ENST00000318493.6	1	1	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672763	0.67928	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.76968	-1.06;-0.91	5.76	5.76	0.90799	.	0.066380	0.64402	D	0.000007	D	0.87297	0.6142	M	0.78916	2.43	0.80722	D	1	D;D	0.63880	0.993;0.959	D;P	0.70227	0.968;0.65	D	0.87240	0.2266	10	0.54805	T	0.06	.	14.4921	0.67657	0.0:0.9299:0.0:0.0701	.	982;964	P08581-2;P08581	.;MET_HUMAN	M	964;982	ENSP00000380860:L964M;ENSP00000317272:L982M	ENSP00000317272:L982M	L	+	1	2	MET	116199141	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.423000	0.44705	2.882000	0.98803	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1	34	178	0	46	1	1	67	165	0	46	2		0	0	0	0	0	2	1	1	33	172	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
MET	4233	broad.mit.edu	37	7	116415084	116415084	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116415084C>T	ENST00000318493.6	+	15	3419	c.3232C>T	c.(3232-3234)Cca>Tca	p.P1078S	MET_ENST00000397752.3_Missense_Mutation_p.P1060S|MET_ENST00000539704.1_5'Flank			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase			233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		TGCTCTAAATCCAGAGCTGGT	0.473000			Mis		papillary renal, head-neck squamous cell 	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)						Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0							SO:0001583	missense	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	ENST00000318493.6	1	1	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684620	0.68157	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000454623	T;T	0.73789	-0.76;-0.78	5.62	5.62	0.85841	Protein kinase-like domain (1);	0.048031	0.85682	D	0.000000	T	0.80969	0.4726	L	0.43152	1.355	0.80722	D	1	P;D	0.76494	0.453;0.999	B;D	0.74348	0.185;0.983	T	0.79438	-0.1803	10	0.42905	T	0.14	.	14.8095	0.69982	0.1441:0.8559:0.0:0.0	.	1078;1060	P08581-2;P08581	.;MET_HUMAN	S	1060;1078;145	ENSP00000380860:P1060S;ENSP00000317272:P1078S	ENSP00000317272:P1078S	P	+	1	0	MET	116202320	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.267000	0.65530	2.795000	0.96236	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3	1	0	1	101	499	0	158	1	1	72	133	0	158	2		0	0	0	0	0	2	1	1	101	492	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THSD7A	221981	broad.mit.edu	37	7	11676485	11676485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11676485G>A	ENST00000423059.4	-	2	545	c.294C>T	c.(292-294)aaC>aaT	p.N98N	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A			113					CCTGCTTACAGTTAGTATGCA	0.512000										HNSCC(18;0.044)														0							SO:0001819	synonymous_variant			ENST00000423059.4	1	1	hg19	CCDS47543.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	1	0	1	77	357	0	105	0	1.494667e-01	0	4	0	105	2		0	0	0	0	0	2	1	1	76	347	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WNT2	7472	broad.mit.edu	37	7	116937895	116937895	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937895G>A	ENST00000265441.3	-	4	923	c.624C>T	c.(622-624)tgC>tgT	p.C208C		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2			31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)		TCACCCCGTGGCACTTGCACT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000265441.3	1	0	hg19	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921671	0.33908	.	.	ENSG00000105989	ENST00000491214	T	0.61980	0.06	5.58	-1.85	0.07784	.	.	.	.	.	T	0.38931	0.1059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34129	-0.9841	6	0.02654	T	1	.	12.2951	0.54842	0.4204:0.0:0.5796:0.0	.	.	.	.	S	116	ENSP00000419466:P116S	ENSP00000419466:P116S	P	-	1	0	WNT2	116725131	1.000000	0.71417	0.982000	0.44146	0.506000	0.33950	0.699000	0.25586	-0.144000	0.11314	-0.367000	0.07326	CCA		TCGA-IB-7651-01A-11D-2154-08	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	0	0	1	119	569	0	118	0	9.992143e-01	0	52	0	118	2		0	0	0	0	0	2	1	1	117	564	0	117	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2			31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)		ACACAGCTGCCGCTGGCTGCT	0.597000																								0							SO:0001583	missense			ENST00000265441.3	1	1	hg19	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542970	0.96474	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76448	-1.02;-1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.76433	2.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.86304	0.1682	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	52	P09544	WNT2_HUMAN	Q	52	ENSP00000265441:R52Q;ENSP00000419466:R52Q	ENSP00000265441:R52Q	R	-	2	0	WNT2	116748012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.691000	0.91804	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	1	0	1	26	115	0	27	0	9.905179e-01	0	36	0	27	2		0	0	0	0	0	2	1	1	25	113	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
CFTR	1080	broad.mit.edu	37	7	117304863	117304863	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117304863G>A	ENST00000003084.6	+	25	4217	c.4085G>A	c.(4084-4086)aGt>aAt	p.S1362N	CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)			69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)	Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCTGTTCTCAGTAAGGCGAAG	0.473000									Cystic Fibrosis															0							SO:0001583	missense	Familial Cancer Database	CF	ENST00000003084.6	1	1	hg19	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064717	0.93898	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93547	-3.24;-3.24;-3.24	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.034897	0.85682	D	0.000000	D	0.93582	0.7951	L	0.31926	0.97	0.80722	D	1	P	0.34743	0.466	P	0.48166	0.569	D	0.91839	0.5482	10	0.46703	T	0.11	-7.325	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1362	P13569	CFTR_HUMAN	N	1362;1301;1332	ENSP00000003084:S1362N;ENSP00000403677:S1301N;ENSP00000389119:S1332N	ENSP00000003084:S1362N	S	+	2	0	CFTR	117092099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.448000	0.80631	2.941000	0.99782	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	1	0	0	33	506	0	135	1	9.995778e-01	4	177	0	135	2		0	0	0	0	0	2	1	1	31	502	0	134	2								-7.326837	1	1	121412	1	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.730000	0.510000	1.000000	0.720000	0.750704	0.730000	0	6.100000e-01	8.900000e-01
CTTNBP2	83992	broad.mit.edu	37	7	117361139	117361139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117361139G>A	ENST00000160373.3	-	20	4584	c.4493C>T	c.(4492-4494)gCt>gTt	p.A1498V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2			83	Lung NSC(10;0.0018)|all_lung(10;0.002)				TGACAGAGAAGCATTCCTGTT	0.303000																								0							SO:0001583	missense			ENST00000160373.3	1	1	hg19	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963163	0.34659	.	.	ENSG00000077063	ENST00000160373	T	0.66460	-0.21	5.21	4.33	0.51752	.	0.621908	0.16066	N	0.231236	T	0.62660	0.2446	M	0.64404	1.975	0.22500	N	0.999042	B	0.23937	0.094	B	0.16289	0.015	T	0.54990	-0.8210	10	0.41790	T	0.15	-0.4606	12.1834	0.54223	0.0795:0.0:0.9205:0.0	.	1498	Q8WZ74	CTTB2_HUMAN	V	1498	ENSP00000160373:A1498V	ENSP00000160373:A1498V	A	-	2	0	CTTNBP2	117148375	0.898000	0.30612	0.632000	0.29296	0.706000	0.40770	2.807000	0.47955	1.306000	0.44926	0.644000	0.83932	GCT		TCGA-IB-7651-01A-11D-2154-08	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1	60	361	0	76	0	1.029242e-01	1	3	0	76	2		0	0	0	0	0	2	1	1	59	356	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CTTNBP2	83992	broad.mit.edu	37	7	117368189	117368189	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117368189A>G	ENST00000160373.3	-	17	4100	c.4009T>C	c.(4009-4011)Ttc>Ctc	p.F1337L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2			83	Lung NSC(10;0.0018)|all_lung(10;0.002)				CAAGACAGGAAATATTTTGGT	0.498000																								0							SO:0001583	missense			ENST00000160373.3	1	1	hg19	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.142339|5.142339	0.94560|0.94560	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	D|.	0.90444|.	-2.67|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.044917|0.044917	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.80681|0.80681	0.4669|0.4669	M|M	0.88105|0.88105	2.93|2.93	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.76494|.	0.999|.	D|.	0.75484|.	0.986|.	D|D	0.84109|0.84109	0.0400|0.0400	10|6	0.87932|.	D|.	0|.	4.1753|4.1753	15.7672|15.7672	0.78135|0.78135	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1337|.	Q8WZ74|.	CTTB2_HUMAN|.	L|S	1337|824	ENSP00000160373:F1337L|.	ENSP00000160373:F1337L|.	F|F	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117155425|117155425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.395000|8.395000	0.90188|0.90188	2.183000|2.183000	0.69458|0.69458	0.528000|0.528000	0.53228|0.53228	TTC|TTT		TCGA-IB-7651-01A-11D-2154-08	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	0	56	587	0	122	0	1.538653e-01	1	7	0	122	2		0	0	0	0	0	2	1	1	55	576	0	120	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.790000	1.000000	1.000000	0.967083	0.990000	1	9.000000e-01	1
CTTNBP2	83992	broad.mit.edu	37	7	117400555	117400555	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117400555T>G	ENST00000160373.3	-	10	3197	c.3106A>C	c.(3106-3108)Act>Cct	p.T1036P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2			83	Lung NSC(10;0.0018)|all_lung(10;0.002)				TTATTGCAAGTCACGTCTTCC	0.453000																								0							SO:0001583	missense			ENST00000160373.3	1	1	hg19	CCDS5774.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	10.42|10.42|10.42	1.344691|1.344691|1.344691	0.24426|0.24426|0.24426	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373|ENST00000435233;ENST00000416239	.|T|.	.|0.67171|.	.|-0.25|.	5.72|5.72|5.72	1.89|1.89|1.89	0.25635|0.25635|0.25635	.|.|.	.|0.408889|.	.|0.27151|.	.|N|.	.|0.020687|.	T|T|.	0.46171|0.46171|.	0.1379|0.1379|.	M|M|M	0.79123|0.79123|0.79123	2.44|2.44|2.44	0.09310|0.09310|0.09310	N|N|N	0.999991|0.999991|0.999991	.|P|.	.|0.47962|.	.|0.903|.	.|B|.	.|0.39876|.	.|0.312|.	T|T|.	0.44620|0.44620|.	-0.9316|-0.9316|.	5|10|.	.|0.72032|.	.|D|.	.|0.01|.	-1.2873|-1.2873|-1.2873	2.3636|2.3636|2.3636	0.04313|0.04313|0.04313	0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057|0.1278:0.1474:0.1191:0.6057	.|.|.	.|1036|.	.|Q8WZ74|.	.|CTTB2_HUMAN|.	A|P|C	523|1036|49;31	.|ENSP00000160373:T1036P|.	.|ENSP00000160373:T1036P|.	D|T|X	-|-|-	2|1|3	0|0|0	CTTNBP2|CTTNBP2|CTTNBP2	117187791|117187791|117187791	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.014000|0.014000|0.014000	0.15608|0.15608|0.15608	0.026000|0.026000|0.026000	0.11368|0.11368|0.11368	0.797000|0.797000|0.797000	0.26999|0.26999|0.26999	0.138000|0.138000|0.138000	0.18790|0.18790|0.18790	-0.417000|-0.417000|-0.417000	0.06048|0.06048|0.06048	GAC|ACT|TGA		TCGA-IB-7651-01A-11D-2154-08	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	0	0	1	104	529	0	144	0	5.086534e-01	0	10	0	144	2		0	0	0	0	1	2	1	1	104	515	0	142	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTTNBP2	83992	broad.mit.edu	37	7	117417759	117417759	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117417759G>A	ENST00000160373.3	-	8	2675	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2			83	Lung NSC(10;0.0018)|all_lung(10;0.002)				TGGTACATAAGAAGCTTGAGG	0.468000																								0							SO:0001583	missense			ENST00000160373.3	1	1	hg19	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.027791|4.027791	0.75390|0.75390	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.78126|.	-1.15|.	5.46|5.46	4.57|4.57	0.56435|0.56435	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72645|0.72645	0.3486|0.3486	M|M	0.71296|0.71296	2.17|2.17	0.54753|0.54753	D|D	0.999987|0.999987	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.73219|0.73219	-0.4052|-0.4052	10|5	0.87932|.	D|.	0|.	-22.5799|-22.5799	14.9195|14.9195	0.70826|0.70826	0.0701:0.0:0.9299:0.0|0.0701:0.0:0.9299:0.0	.|.	862|.	Q8WZ74|.	CTTB2_HUMAN|.	F|F	862|349	ENSP00000160373:L862F|.	ENSP00000160373:L862F|.	L|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117204995|117204995	1.000000|1.000000	0.71417|0.71417	0.511000|0.511000	0.27724|0.27724	0.803000|0.803000	0.45373|0.45373	6.945000|6.945000	0.75947|0.75947	1.410000|1.410000	0.46936|0.46936	0.650000|0.650000	0.86243|0.86243	CTT|TCT		TCGA-IB-7651-01A-11D-2154-08	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1	45	239	0	62	0	2.486902e-01	0	6	0	62	2		0	0	0	0	0	2	1	1	46	233	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CTTNBP2	83992	broad.mit.edu	37	7	117420533	117420533	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117420533A>T	ENST00000160373.3	-	7	2576	c.2485T>A	c.(2485-2487)Ttg>Atg	p.L829M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2			83	Lung NSC(10;0.0018)|all_lung(10;0.002)				GCTTCCAACAAGAGTTTAATA	0.343000																								0							SO:0001583	missense			ENST00000160373.3	1	1	hg19	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.44|15.44	2.834947|2.834947	0.50951|0.50951	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	T|D	0.69806|0.90004	-0.43|-2.6	5.78|5.78	-2.05|-2.05	0.07321|0.07321	.|Ankyrin repeat-containing domain (3);	0.063133|0.063133	0.64402|0.64402	D|D	0.000008|0.000008	D|D	0.93462|0.93462	0.7914|0.7914	M|M	0.84948|0.84948	2.725|2.725	0.37406|0.37406	D|D	0.913042|0.913042	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.93340|0.93340	0.6709|0.6709	8|10	0.66056|0.87932	D|D	0.02|0	-7.1708|-7.1708	12.828|12.828	0.57731|0.57731	0.5502:0.0:0.4498:0.0|0.5502:0.0:0.4498:0.0	.|.	.|829	.|Q8WZ74	.|CTTB2_HUMAN	H|M	316|829	ENSP00000389576:L316H|ENSP00000160373:L829M	ENSP00000389576:L316H|ENSP00000160373:L829M	L|L	-|-	2|1	0|2	CTTNBP2|CTTNBP2	117207769|117207769	0.973000|0.973000	0.33851|0.33851	0.561000|0.561000	0.28357|0.28357	0.450000|0.450000	0.32258|0.32258	0.600000|0.600000	0.24104|0.24104	-0.263000|-0.263000	0.09378|0.09378	-0.290000|-0.290000	0.09829|0.09829	CTT|TTG		TCGA-IB-7651-01A-11D-2154-08	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1	104	542	0	80	0	1.878785e-01	0	5	0	80	2		0	0	0	0	0	2	1	1	100	534	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAA38	84316	broad.mit.edu	37	7	117828431	117828431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117828431G>T	ENST00000249299.2	+	3	364	c.172G>T	c.(172-174)Gga>Tga	p.G58*	NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*|NAA38_ENST00000424702.1_Nonsense_Mutation_p.G58*	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit			8					AGTGGTACTAGGATTATACAT	0.368000																								0							SO:0001587	stop_gained			ENST00000249299.2	0	1	hg19	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274682	0.80580	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	.	.	.	5.84	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.22	14.8076	0.69968	0.0688:0.0:0.9312:0.0	.	.	.	.	X	58;58;37;69	.	ENSP00000249299:G58X	G	+	1	0	NAA38	117615667	1.000000	0.71417	0.167000	0.22817	0.953000	0.61014	9.234000	0.95347	1.480000	0.48289	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	1	0	0	50	232	0	59	1	1	71	171	0	59	2		0	0	0	0	0	2	1	1	50	228	0	59	2								-3.008629	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCND2	3751	broad.mit.edu	37	7	119915287	119915287	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915287G>A	ENST00000331113.4	+	1	1566	c.601G>A	c.(601-603)Gcg>Acg	p.A201T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2			75	all_neural(327;0.117)			Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTCTGTCATCGCGAATGTGGT	0.562000																								0							SO:0001583	missense			ENST00000331113.4	1	1	hg19	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178077	0.38511	.	.	ENSG00000184408	ENST00000331113	D	0.97378	-4.36	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	N	0.21282	0.65	0.58432	D	0.999998	B	0.27732	0.187	B	0.20384	0.029	D	0.90746	0.4653	9	.	.	.	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	201	Q9NZV8	KCND2_HUMAN	T	201	ENSP00000333496:A201T	.	A	+	1	0	KCND2	119702523	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	3.701000	0.54793	2.641000	0.89580	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	1	0	1	59	266	0	59	0	4.459537e-01	0	8	0	59	2		0	0	0	0	0	2	1	1	58	264	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCND2	3751	broad.mit.edu	37	7	119915676	119915676	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915676G>A	ENST00000331113.4	+	1	1955	c.990G>A	c.(988-990)tcG>tcA	p.S330S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2			75	all_neural(327;0.117)			Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGCTTTTCTCGCTCACCATGG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000331113.4	1	1	hg19	CCDS5776.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	1	0	1	98	421	0	85	0	7.720045e-01	0	14	0	85	2		0	0	0	0	0	2	1	1	98	408	0	84	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRZ1	5803	broad.mit.edu	37	7	121568253	121568253	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121568253A>C	ENST00000393386.2	+	2	513	c.102A>C	c.(100-102)gaA>gaC	p.E34D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E34D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1			106					AACTTGTTGAAGAGATTGGCT	0.274000																								0							SO:0001583	missense			ENST00000393386.2	1	1	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.950785	0.53186	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.48836	0.82;0.8	5.84	3.49	0.39957	.	0.000000	0.64402	D	0.000007	T	0.51839	0.1698	L	0.29908	0.895	0.25239	N	0.989767	D;D	0.76494	0.994;0.999	D;D	0.78314	0.97;0.991	T	0.39078	-0.9631	10	0.49607	T	0.09	.	8.349	0.32290	0.8468:0.0:0.1532:0.0	.	34;34	C9JFM0;P23471	.;PTPRZ_HUMAN	D	34	ENSP00000377047:E34D;ENSP00000410000:E34D	ENSP00000377047:E34D	E	+	3	2	PTPRZ1	121355489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.940000	0.49003	0.480000	0.27534	-0.250000	0.11733	GAA		TCGA-IB-7651-01A-11D-2154-08	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	1	0	1	129	673	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	1	126	664	0	174	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRZ1	5803	broad.mit.edu	37	7	121652806	121652806	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121652806C>T	ENST00000393386.2	+	12	4117	c.3706C>T	c.(3706-3708)Ctg>Ttg	p.L1236L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1			106					TGAAAACATGCTGCACTCTAC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000393386.2	1	1	hg19	CCDS34740.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	1	0	0	165	722	0	146	0	0	0	1	0	146	2		0	0	0	0	0	2	1	1	163	709	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRZ1	5803	broad.mit.edu	37	7	121659225	121659225	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121659225T>G	ENST00000393386.2	+	13	5302	c.4891T>G	c.(4891-4893)Ttg>Gtg	p.L1631V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L771V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1			106					AGCTGAGGGGTTGGAATCCGA	0.438000																								0							SO:0001583	missense			ENST00000393386.2	1	1	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450921	0.26074	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.75589	0.81;-0.95	5.37	-5.41	0.02648	.	0.000000	0.53938	D	0.000053	T	0.67850	0.2937	M	0.66939	2.045	0.23198	N	0.998139	B;B;P	0.40360	0.1;0.067;0.714	B;B;B	0.37198	0.084;0.018;0.243	T	0.62353	-0.6872	10	0.54805	T	0.06	.	16.7431	0.85465	0.0:0.5728:0.0:0.4272	.	770;771;1631	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1631;771	ENSP00000377047:L1631V;ENSP00000410000:L771V	ENSP00000377047:L1631V	L	+	1	2	PTPRZ1	121446461	0.681000	0.27614	0.383000	0.26132	0.982000	0.71751	-0.257000	0.08745	-1.949000	0.01031	-1.463000	0.01021	TTG		TCGA-IB-7651-01A-11D-2154-08	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	1	0	1	57	297	0	59	0	2.692538e-02	0	2	0	59	2		0	0	0	0	0	2	1	1	57	291	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AASS	10157	broad.mit.edu	37	7	121726195	121726195	+	Silent	SNP	G	G	A	rs145793131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121726195G>A	ENST00000393376.1	-	18	2150	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	AASS_ENST00000417368.2_Silent_p.A685A|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase			54					TGGACGTAACGGCATCAAGAA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000393376.1	1	1	hg19	CCDS5783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	1	0	1	34	139	0	39	0	9.058501e-01	1	18	0	39	2		0	0	0	0	0	2	1	1	33	133	0	39	2								-3.363870	1	1	121382	13	40	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AASS	10157	broad.mit.edu	37	7	121738597	121738597	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121738597C>A	ENST00000393376.1	-	14	1657	c.1562G>T	c.(1561-1563)gGc>gTc	p.G521V	AASS_ENST00000417368.2_Missense_Mutation_p.G521V|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase			54					ATATTTCTTGCCTAACTGTTC	0.323000																								0							SO:0001583	missense			ENST00000393376.1	1	1	hg19	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804224	0.31869	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.38401	1.14;1.14	5.97	4.13	0.48395	NAD(P)-binding domain (1);	0.791425	0.12271	N	0.483813	T	0.12561	0.0305	N	0.01091	-1.02	0.09310	N	0.999996	B	0.02656	0.0	B	0.12156	0.007	T	0.07558	-1.0766	10	0.59425	D	0.04	0.2893	4.3102	0.10967	0.1252:0.5612:0.2255:0.0881	.	521	Q9UDR5	AASS_HUMAN	V	521	ENSP00000377040:G521V;ENSP00000403768:G521V	ENSP00000351834:G521V	G	-	2	0	AASS	121525833	0.080000	0.21391	0.129000	0.21949	0.926000	0.56050	2.831000	0.48144	1.533000	0.49186	0.585000	0.79938	GGC		TCGA-IB-7651-01A-11D-2154-08	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	1	0	1	36	137	0	38	0	7.851533e-01	1	12	0	38	2		0	0	0	0	0	2	1	1	36	135	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AASS	10157	broad.mit.edu	37	7	121753177	121753177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121753177C>A	ENST00000393376.1	-	10	1368	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	AASS_ENST00000417368.2_Nonsense_Mutation_p.E425*|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase			54					CTTACCATTTCTTCAACATAA	0.398000																								0							SO:0001587	stop_gained			ENST00000393376.1	0	1	hg19	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	38	7.109776	0.98070	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.38	5.38	0.77491	.	0.046196	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-23.8767	19.4992	0.95086	0.0:1.0:0.0:0.0	.	.	.	.	X	425	.	ENSP00000351834:E425X	E	-	1	0	AASS	121540413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.959000	0.70339	2.689000	0.91719	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	0	0	0	7	171	0	45	0	1.917569e-01	0	18	0	45	2		0	0	0	0	0	2	1	9.800744e-01	6	169	0	45	2								-9.384573	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.500000	0.220000	1.000000	0.460000	0.538428	0.500000	0	3.300000e-01	7.300000e-01
AASS	10157	broad.mit.edu	37	7	121769556	121769556	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121769556A>G	ENST00000393376.1	-	2	341	c.246T>C	c.(244-246)gaT>gaC	p.D82D	AASS_ENST00000417368.2_Silent_p.D82D|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase			54					CTTCAGAAATATCCTCCTGAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000393376.1	1	1	hg19	CCDS5783.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	1	0	0	48	238	0	83	1	7.737869e-01	5	11	0	83	2		0	0	0	0	0	2	1	1	47	232	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FEZF1	389549	broad.mit.edu	37	7	121944232	121944232	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944232T>C	ENST00000442488.2	-	1	327	c.260A>G	c.(259-261)aAg>aGg	p.K87R	FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1			25					CACTCCTGCCTTGGGGCTCGT	0.687000																								0							SO:0001583	missense			ENST00000442488.2	1	1	hg19	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492179	0.44352	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.11277	2.88;3.0;2.79	4.65	4.65	0.58169	.	0.052252	0.85682	D	0.000000	T	0.11580	0.0282	L	0.47016	1.485	0.36552	D	0.871937	B;B	0.30146	0.176;0.27	B;B	0.25291	0.026;0.059	T	0.10019	-1.0648	10	0.72032	D	0.01	-15.3977	13.6885	0.62531	0.0:0.0:0.0:1.0	.	87;87	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	R	87	ENSP00000411145:K87R;ENSP00000332777:K87R;ENSP00000392727:K87R	ENSP00000332777:K87R	K	-	2	0	FEZF1	121731468	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.049000	0.64244	2.069000	0.61940	0.454000	0.30748	AAG		TCGA-IB-7651-01A-11D-2154-08	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	1	0	0	35	190	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	34	185	0	46	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
FEZF1	389549	broad.mit.edu	37	7	121944281	121944281	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944281T>C	ENST00000442488.2	-	1	278	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1			25					ATGCAGGGGATCGACGAGTTG	0.677000																								0							SO:0001583	missense			ENST00000442488.2	1	1	hg19	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569433	0.28003	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08370	3.16;3.28;3.1	4.65	3.47	0.39725	.	0.116516	0.64402	D	0.000017	T	0.08223	0.0205	L	0.36672	1.1	0.31931	N	0.612159	B;B	0.29432	0.158;0.244	B;B	0.31547	0.042;0.132	T	0.05582	-1.0876	10	0.45353	T	0.12	-18.4477	11.2114	0.48802	0.0:0.0:0.2913:0.7087	.	71;71	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	V	71	ENSP00000411145:I71V;ENSP00000332777:I71V;ENSP00000392727:I71V	ENSP00000332777:I71V	I	-	1	0	FEZF1	121731517	0.999000	0.42202	0.999000	0.59377	0.866000	0.49608	1.097000	0.30988	0.883000	0.36040	-0.478000	0.04885	ATC		TCGA-IB-7651-01A-11D-2154-08	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	1	0	1	63	361	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	1	61	353	0	95	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CADPS2	93664	broad.mit.edu	37	7	122091518	122091518	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122091518A>G	ENST00000449022.2	-	15	2217	c.2198T>C	c.(2197-2199)aTt>aCt	p.I733T	CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T|CADPS2_ENST00000334010.7_Missense_Mutation_p.I734T|CADPS2_ENST00000412584.2_Missense_Mutation_p.I730T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2			43					AACAGTCCCAATTCCATCAGG	0.284000																								0							SO:0001583	missense			ENST00000449022.2	1	1	hg19	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017449	0.54576	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.41	5.41	0.78517	.	0.057162	0.64402	D	0.000002	T	0.46229	0.1382	M	0.62723	1.935	0.51767	D	0.99993	P;P;P;P	0.44521	0.704;0.837;0.704;0.557	B;P;B;B	0.47044	0.139;0.535;0.139;0.107	T	0.50406	-0.8832	10	0.87932	D	0	-17.753	15.5048	0.75728	1.0:0.0:0.0:0.0	.	733;730;733;730	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.;.;CAPS2_HUMAN;.	T	730;734;734;697;730;733	ENSP00000325581:I730T;ENSP00000333940:I734T;ENSP00000400401:I730T;ENSP00000398481:I733T	ENSP00000325581:I730T	I	-	2	0	CADPS2	121878754	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.464000	0.73534	2.063000	0.61619	0.477000	0.44152	ATT		TCGA-IB-7651-01A-11D-2154-08	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	1	0	1	22	114	0	23	1	9.999592e-01	16	75	0	23	2		0	0	0	0	0	2	1	9.999992e-01	22	112	0	23	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999842	0.990000	1	9.900000e-01	1
RNF148	378925	broad.mit.edu	37	7	122342708	122342708	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122342708T>G	ENST00000434824.1	-	1	313	c.97A>C	c.(97-99)Aac>Cac	p.N33H	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148			16					GCTTTTCCGTTTGAGTCAGGA	0.423000																								0							SO:0001583	missense			ENST00000434824.1	0	1	hg19	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	T	6.628	0.484386	0.12641	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04317	3.65	5.4	4.03	0.46877	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.58432	D	0.999999	B;P	0.35600	0.412;0.511	B;B	0.31751	0.128;0.135	T	0.53330	-0.8454	9	0.45353	T	0.12	.	2.4256	0.04459	0.1502:0.0928:0.1556:0.6014	.	33;33	C9JVJ0;Q8N7C7	.;RN148_HUMAN	H	33	ENSP00000388207:N33H	ENSP00000388207:N33H	N	-	1	0	RNF148	122129944	0.037000	0.19845	0.976000	0.42696	0.468000	0.32798	1.444000	0.35068	2.044000	0.60594	0.454000	0.30748	AAC		TCGA-IB-7651-01A-11D-2154-08	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	1	0	1	22	142	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.999989e-01	20	138	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998719	0.990000	1	9.900000e-01	1
TAS2R16	50833	broad.mit.edu	37	7	122635033	122635033	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635033A>G	ENST00000249284.2	-	1	721	c.656T>C	c.(655-657)aTg>aCg	p.M219T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16			31					GCGCGCTTTCATGCTTGGATT	0.443000																								0							SO:0001583	missense			ENST00000249284.2	0	1	hg19	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.652907	0.00785	.	.	ENSG00000128519	ENST00000249284	T	0.00628	6.11	4.46	-1.31	0.09230	.	0.944392	0.08725	N	0.902914	T	0.00384	0.0012	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.18871	0.023	T	0.44877	-0.9299	10	0.02654	T	1	.	0.9905	0.01455	0.4151:0.1669:0.095:0.323	.	219	Q9NYV7	T2R16_HUMAN	T	219	ENSP00000249284:M219T	ENSP00000249284:M219T	M	-	2	0	TAS2R16	122422269	0.000000	0.05858	0.035000	0.18076	0.126000	0.20510	-0.296000	0.08287	-0.286000	0.09076	-0.316000	0.08728	ATG		TCGA-IB-7651-01A-11D-2154-08	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	0	0	0	10	478	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	9.967423e-01	10	472	0	94	2								-8.966918	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.250000	0.120000	1.000000	0.250000	0.304198	0.250000	0	1.800000e-01	3.600000e-01
TAS2R16	50833	broad.mit.edu	37	7	122635261	122635261	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635261G>T	ENST00000249284.2	-	1	493	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16			31					AATAGCTGAAGGGATGATTGT	0.388000																								0							SO:0001583	missense			ENST00000249284.2	1	1	hg19	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486645	0.44249	.	.	ENSG00000128519	ENST00000249284	T	0.00784	5.7	4.56	0.235	0.15431	.	0.351880	0.24909	N	0.034633	T	0.02380	0.0073	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.40040	-0.9584	10	0.59425	D	0.04	.	4.2625	0.10747	0.246:0.0:0.5736:0.1804	.	143	Q9NYV7	T2R16_HUMAN	H	143	ENSP00000249284:P143H	ENSP00000249284:P143H	P	-	2	0	TAS2R16	122422497	0.000000	0.05858	0.001000	0.08648	0.268000	0.26511	-0.035000	0.12205	-0.073000	0.12842	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	1	0	1	58	311	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	58	307	0	71	2								-2.531568	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAS2R16	50833	broad.mit.edu	37	7	122635379	122635379	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635379A>G	ENST00000249284.2	-	1	375	c.310T>C	c.(310-312)Tgc>Cgc	p.C104R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16			31					ACCTTGATGCAGTAGAACACG	0.373000																								0							SO:0001583	missense			ENST00000249284.2	1	1	hg19	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049427	0.36181	.	.	ENSG00000128519	ENST00000249284	T	0.38077	1.16	4.33	4.33	0.51752	.	0.062957	0.64402	D	0.000007	T	0.62901	0.2466	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69213	-0.5204	10	0.87932	D	0	.	10.0659	0.42303	1.0:0.0:0.0:0.0	.	104	Q9NYV7	T2R16_HUMAN	R	104	ENSP00000249284:C104R	ENSP00000249284:C104R	C	-	1	0	TAS2R16	122422615	0.991000	0.36638	1.000000	0.80357	0.113000	0.19764	3.260000	0.51523	1.948000	0.56530	0.533000	0.62120	TGC		TCGA-IB-7651-01A-11D-2154-08	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	1	0	1	45	237	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	45	235	0	63	2								-19.999630	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLC13A1	6561	broad.mit.edu	37	7	122763231	122763231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122763231C>T	ENST00000194130.2	-	12	1338	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1			45				Succinic acid(DB00139)	TGGCTATATCCCAGGGCATGA	0.378000																								0							SO:0001587	stop_gained			ENST00000194130.2	0	1	hg19	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	37	6.582130	0.97680	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.77	5.77	0.91146	.	0.118903	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	.	.	.	X	433	.	ENSP00000194130:W433X	W	-	3	0	SLC13A1	122550467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.251000	0.78297	2.728000	0.93425	0.591000	0.81541	TGG		TCGA-IB-7651-01A-11D-2154-08	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	1	0	1	63	298	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	63	292	0	114	2								-2.745933	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC13A1	6561	broad.mit.edu	37	7	122787315	122787315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122787315C>T	ENST00000194130.2	-	7	749	c.710G>A	c.(709-711)cGt>cAt	p.R237H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1			45				Succinic acid(DB00139)	CGTAAGTTTACGTGTCACGTG	0.403000																								0							SO:0001583	missense			ENST00000194130.2	1	1	hg19	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588357	0.28357	0.0	1.16E-4	ENSG00000081800	ENST00000194130	T	0.02890	4.12	5.0	5.0	0.66597	.	0.047420	0.85682	D	0.000000	T	0.03390	0.0098	L	0.33339	1.005	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.15870	0.014;0.014	T	0.53429	-0.8440	10	0.31617	T	0.26	-12.2015	15.81	0.78552	0.0:1.0:0.0:0.0	.	237;237	A4D0X1;Q9BZW2	.;S13A1_HUMAN	H	237	ENSP00000194130:R237H	ENSP00000194130:R237H	R	-	2	0	SLC13A1	122574551	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	4.920000	0.63390	2.337000	0.79520	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	1	0	0	12	103	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	9.992060e-01	10	103	0	29	2								-18.392580	1	1	121370	10	41	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.690000	1.000000	1.000000	0.968771	0.990000	1	9.400000e-01	1
IQUB	154865	broad.mit.edu	37	7	123152119	123152119	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123152119C>T	ENST00000466202.1	-	2	852	c.276G>A	c.(274-276)ccG>ccA	p.P92P	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.P92P|IQUB_ENST00000434450.1_Silent_p.P92P	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing			45					CATGATGTTGCGGAGTATATG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000466202.1	1	1	hg19	CCDS5787.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	1	0	1	85	433	0	136	0	1.308330e-01	0	3	0	136	2		0	0	0	0	0	2	1	1	85	424	0	135	2								-20.000000	1	1	121410	4	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASB15	142685	broad.mit.edu	37	7	123269055	123269055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269055C>T	ENST00000451558.1	+	12	1528	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ASB15_ENST00000275699.3_Missense_Mutation_p.T336I|ASB15_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15			12					GATGTCAACACTCTACTTGCT	0.433000																								0							SO:0001583	missense			ENST00000451558.1	1	1	hg19	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	5.374	0.254323	0.10185	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	6.17	1.25	0.21368	Ankyrin repeat-containing domain (4);	0.886714	0.09976	N	0.731572	T	0.05868	0.0153	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37384	-0.9708	10	0.37606	T	0.19	-38.4327	2.7332	0.05233	0.1186:0.4693:0.2298:0.1823	.	336	Q8WXK1	ASB15_HUMAN	I	336;336;336;336;125;336	ENSP00000397655:T336I;ENSP00000390963:T336I;ENSP00000416433:T336I;ENSP00000438643:T336I;ENSP00000275699:T336I	ENSP00000275699:T336I	T	+	2	0	ASB15	123056291	0.000000	0.05858	0.000000	0.03702	0.711000	0.40976	0.211000	0.17474	-0.040000	0.13580	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	1	0	1	78	412	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1	76	405	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASB15	142685	broad.mit.edu	37	7	123269160	123269160	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269160C>A	ENST00000451558.1	+	12	1633	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	ASB15_ENST00000275699.3_Missense_Mutation_p.A371D|ASB15_ENST00000451215.1_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D|ASB15_ENST00000540573.1_Missense_Mutation_p.A371D			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15			12					GTCCTTCTGGCTGCAGGTGCA	0.473000																								0							SO:0001583	missense			ENST00000451558.1	1	1	hg19	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788999	0.31685	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	6.06	4.12	0.48240	Ankyrin repeat-containing domain (4);	0.652169	0.14645	N	0.306969	T	0.40196	0.1107	N	0.02697	-0.525	0.25479	N	0.98776	B	0.26318	0.146	B	0.29176	0.099	T	0.38067	-0.9678	10	0.44086	T	0.13	-12.5825	13.2069	0.59803	0.5448:0.4552:0.0:0.0	.	371	Q8WXK1	ASB15_HUMAN	D	371;371;371;371;160;371	ENSP00000397655:A371D;ENSP00000390963:A371D;ENSP00000416433:A371D;ENSP00000438643:A371D;ENSP00000275699:A371D	ENSP00000275699:A371D	A	+	2	0	ASB15	123056396	0.829000	0.29322	1.000000	0.80357	0.971000	0.66376	0.324000	0.19610	1.496000	0.48567	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	0	0	0	14	366	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	9.997383e-01	14	360	0	95	2								-4.073674	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.450000	0.250000	1.000000	0.430000	0.489117	0.450000	0	3.400000e-01	6.000000e-01
WASL	8976	broad.mit.edu	37	7	123332856	123332856	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123332856C>A	ENST00000223023.4	-	9	1224	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like			29					ggaggaggacctgagttgtgt	0.602000																								0							SO:0001583	missense			ENST00000223023.4	1	1	hg19	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556491	0.45487	.	.	ENSG00000106299	ENST00000223023	D	0.90261	-2.64	5.39	5.39	0.77823	Wiscott-Aldrich syndrome, C-terminal (1);	0.112073	0.64402	D	0.000014	D	0.90903	0.7141	L	0.60455	1.87	0.42982	D	0.994466	D	0.58620	0.983	P	0.46975	0.533	D	0.90559	0.4514	10	0.39692	T	0.17	-2.6205	19.209	0.93747	0.0:1.0:0.0:0.0	.	298	O00401	WASL_HUMAN	C	298	ENSP00000223023:G298C	ENSP00000223023:G298C	G	-	1	0	WASL	123120092	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	4.111000	0.57838	2.528000	0.85240	0.644000	0.83932	GGT		TCGA-IB-7651-01A-11D-2154-08	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	1	0	1	79	375	0	79	1	1	39	180	0	79	2		0	0	0	0	0	2	1	1	75	357	0	79	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HYAL4	23553	broad.mit.edu	37	7	123508656	123508656	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123508656G>T	ENST00000223026.4	+	3	967	c.329G>T	c.(328-330)gGa>gTa	p.G110V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4			23					CCCATTAATGGAGGTCTCCCA	0.428000																								0							SO:0001583	missense			ENST00000223026.4	1	1	hg19	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658059	0.67586	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.56103	0.48;0.48	5.49	5.49	0.81192	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	D	0.86451	0.1773	9	.	.	.	-35.1934	19.3677	0.94471	0.0:0.0:1.0:0.0	.	110;110	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	V	110	ENSP00000223026:G110V;ENSP00000417186:G110V	.	G	+	2	0	HYAL4	123295892	1.000000	0.71417	0.960000	0.40013	0.419000	0.31324	9.792000	0.99085	2.582000	0.87167	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	1	0	1	87	395	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	84	391	0	89	2								-3.213310	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HYAL4	23553	broad.mit.edu	37	7	123516989	123516989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123516989C>T	ENST00000223026.4	+	5	1864	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4			23					CACATAGAGGCCTCTGAGGAC	0.483000																								0							SO:0001583	missense			ENST00000223026.4	1	1	hg19	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357485	0.11239	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.17691	2.26;2.26	5.86	1.63	0.23807	Epidermal growth factor-like (1);	0.774566	0.12155	N	0.494491	T	0.08268	0.0206	N	0.12887	0.27	0.19300	N	0.999978	B	0.06786	0.001	B	0.06405	0.002	T	0.41928	-0.9481	10	0.13108	T	0.6	0.0162	8.2129	0.31494	0.0:0.5058:0.0:0.4942	.	409	Q2M3T9	HYAL4_HUMAN	V	409	ENSP00000223026:A409V;ENSP00000417186:A409V	ENSP00000223026:A409V	A	+	2	0	HYAL4	123304225	0.000000	0.05858	0.932000	0.37286	0.464000	0.32679	-0.133000	0.10451	0.348000	0.23949	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	1	0	1	86	381	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	84	378	0	104	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POT1	25913	broad.mit.edu	37	7	124464052	124464052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124464052C>T	ENST00000357628.3	-	19	2467	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	POT1_ENST00000393329.1_Silent_p.Q492Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1			47					TGTCAAAAATCTGATAGCAAA	0.343000													Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											0							SO:0001819	synonymous_variant			ENST00000357628.3	1	1	hg19	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924143	0.18056	.	.	ENSG00000128513	ENST00000436534	.	.	.	5.95	2.16	0.27623	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-10.601	7.4549	0.27261	0.0:0.6136:0.0:0.3864	.	.	.	.	N	122	.	.	D	-	1	0	POT1	124251288	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.186000	0.16978	0.862000	0.35528	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1	1	0	1	7	122	0	30	1	9.852538e-01	20	117	0	30	2		0	0	0	0	0	2	1	9.799209e-01	7	119	0	30	2								-10.919740	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.680000	0.300000	1.000000	1.000000	0.698103	0.680000	0	4.600000e-01	1
POT1	25913	broad.mit.edu	37	7	124465393	124465393	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124465393G>A	ENST00000357628.3	-	18	2303	c.1705C>T	c.(1705-1707)Cca>Tca	p.P569S	POT1_ENST00000393329.1_Missense_Mutation_p.P438S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1			47					TCTGATGCTGGAATCTGGAAG	0.294000													Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											0							SO:0001583	missense			ENST00000357628.3	1	1	hg19	CCDS5793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.015367|2.015367	0.35511|0.35511	.|.	.|.	ENSG00000128513|ENSG00000128513	ENST00000357628;ENST00000393329|ENST00000436534	T;T|.	0.46063|.	0.97;0.88|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.207319|.	0.44902|.	D|.	0.000417|.	T|T	0.60130|0.60130	0.2245|0.2245	L|L	0.52573|0.52573	1.65|1.65	0.39108|0.39108	D|D	0.961418|0.961418	D|.	0.53312|.	0.959|.	P|.	0.46076|.	0.503|.	T|T	0.60556|0.60556	-0.7240|-0.7240	10|5	0.21540|.	T|.	0.41|.	-19.2466|-19.2466	10.2755|10.2755	0.43507|0.43507	0.0894:0.0:0.9106:0.0|0.0894:0.0:0.9106:0.0	.|.	569|.	Q9NUX5|.	POTE1_HUMAN|.	S|F	569;438|67	ENSP00000350249:P569S;ENSP00000377002:P438S|.	ENSP00000350249:P569S|.	P|S	-|-	1|2	0|0	POT1|POT1	124252629|124252629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	4.430000|4.430000	0.59907|0.59907	2.569000|2.569000	0.86673|0.86673	0.650000|0.650000	0.86243|0.86243	CCA|TCC		TCGA-IB-7651-01A-11D-2154-08	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1	0	0	1	23	143	1	57	1	9.533983e-01	34	67	1	57	8		0	0	0	0	0	2	1	9.903191e-01	23	142	1	56	11								-3.232446	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999243	0.990000	1	9.900000e-01	1
POT1	25913	broad.mit.edu	37	7	124483018	124483018	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124483018C>A	ENST00000357628.3	-	13	1605		c.e13-1		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1			47					TCTGTAAGTACTGTAAAGAAT	0.318000													Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											0							SO:0001630	splice_region_variant			ENST00000357628.3	1	1	hg19	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863051	0.51482	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.207	0.89858	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POT1	124270254	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	5.582000	0.67477	2.641000	0.89580	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1	1	0	1	20	89	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999975e-01	20	88	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999926	0.990000	1	9.900000e-01	1
GRM8	2918	broad.mit.edu	37	7	126746697	126746697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:126746697G>A	ENST00000339582.2	-	3	1388	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8			125		Prostate(267;0.186)			GGAACCACTCGAGAGAAAAAG	0.488000										HNSCC(24;0.065)														0							SO:0001587	stop_gained			ENST00000339582.2	0	1	hg19	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	38	7.190590	0.98125	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	.	.	.	4.91	4.02	0.46733	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6223	0.62144	0.0:0.0:0.8439:0.1561	.	.	.	.	X	194;194;194;194;194;4	.	ENSP00000344173:R194X	R	-	1	2	GRM8	126533933	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.990000	0.88215	1.038000	0.40049	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4	1	0	1	62	226	0	44	0	4.777817e-02	0	2	0	44	2		0	0	0	0	0	2	1	1	61	208	0	43	2								-3.691340	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCIN	85477	broad.mit.edu	37	7	12691470	12691470	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12691470T>G	ENST00000297029.5	+	15	2065	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000445618.2_Missense_Mutation_p.F408C|SCIN_ENST00000519209.1_Missense_Mutation_p.F408C	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin			17					TTTCAGATATTTATTTGGATT	0.378000																								0							SO:0001583	missense			ENST00000297029.5	0	1	hg19	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345147	0.82022	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.30182	1.54;1.54;1.54	5.74	5.74	0.90152	Gelsolin domain (1);	0.099917	0.64402	D	0.000001	T	0.69940	0.3167	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81364	-0.0966	10	0.87932	D	0	-18.8659	16.0395	0.80654	0.0:0.0:0.0:1.0	.	655	Q9Y6U3	ADSV_HUMAN	C	655;408;408	ENSP00000297029:F655C;ENSP00000430997:F408C;ENSP00000390189:F408C	ENSP00000297029:F655C	F	+	2	0	SCIN	12657995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.188000	0.77739	2.188000	0.69820	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	1	0	1	12	51	0	10	1	9.999794e-01	46	54	0	10	2		0	0	0	0	0	2	1	9.994348e-01	12	51	0	10	2								-19.999050	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999127	0.990000	1	9.900000e-01	1
ZNF800	168850	broad.mit.edu	37	7	127013819	127013819	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127013819C>T	ENST00000393313.1	-	5	2162	c.1571G>A	c.(1570-1572)tGc>tAc	p.C524Y	ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800			32					TTCATAAGTGCAAAGAGGACA	0.363000																								0							SO:0001583	missense			ENST00000393313.1	1	1	hg19	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096688	0.56075	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	D;D;D	0.99176	-5.52;-5.52;-5.52	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	L	0.32530	0.975	0.40964	D	0.984644	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99066	1.0832	8	.	.	.	-12.6818	19.6475	0.95784	0.0:1.0:0.0:0.0	.	427;524	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	524	ENSP00000376989:C524Y;ENSP00000265827:C524Y;ENSP00000376988:C524Y	.	C	-	2	0	ZNF800	126801055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	1	0	1	74	354	0	95	1	9.995802e-01	11	46	0	95	2		0	0	0	0	0	2	1	1	74	347	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF800	168850	broad.mit.edu	37	7	127014200	127014200	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014200G>T	ENST00000393313.1	-	5	1781	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H|ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800			32					AGTATTATTAGGGCCTTTTTC	0.353000																								0							SO:0001583	missense			ENST00000393313.1	1	1	hg19	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156460	0.21454	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14640	2.49;2.49;2.49	5.68	5.68	0.88126	.	0.134805	0.49305	D	0.000150	T	0.11110	0.0271	N	0.08118	0	0.30170	N	0.801362	D;D	0.56746	0.977;0.977	P;P	0.49561	0.615;0.615	T	0.31052	-0.9957	8	.	.	.	-3.818	14.3948	0.67003	0.0:0.1473:0.8527:0.0	.	300;397	B7Z4V7;Q2TB10	.;ZN800_HUMAN	H	397	ENSP00000376989:P397H;ENSP00000265827:P397H;ENSP00000376988:P397H	.	P	-	2	0	ZNF800	126801436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.676000	0.46883	2.685000	0.91497	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	1	0	1	99	539	0	106	1	9.916888e-01	9	33	0	106	2		0	0	0	0	0	2	1	1	99	536	0	106	2								-3.076634	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF800	168850	broad.mit.edu	37	7	127014937	127014937	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014937A>G	ENST00000393313.1	-	5	1044	c.453T>C	c.(451-453)gaT>gaC	p.D151D	ZNF800_ENST00000393312.1_Silent_p.D151D|ZNF800_ENST00000265827.3_Silent_p.D151D|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800			32					CAATAGGATTATCAGTCCTCG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000393313.1	1	1	hg19	CCDS5795.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	0	0	1	72	388	0	81	1	9.937501e-01	8	36	0	81	2		0	0	0	0	0	2	1	1	70	384	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCC1	79571	broad.mit.edu	37	7	127223015	127223015	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127223015C>A	ENST00000321407.2	-	2	1805	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1			38					ATCTCCAGGTCACAGAGCTTC	0.527000																								0							SO:0001583	missense			ENST00000321407.2	1	1	hg19	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582210	0.46006	.	.	ENSG00000179562	ENST00000321407	T	0.12672	2.66	5.12	2.34	0.29019	.	0.224065	0.47852	D	0.000209	T	0.10637	0.0260	L	0.29908	0.895	0.40906	D	0.984191	P	0.44195	0.828	B	0.42653	0.394	T	0.09662	-1.0664	10	0.59425	D	0.04	-14.9262	7.7853	0.29089	0.0:0.735:0.0:0.265	.	461	Q96CN9	GCC1_HUMAN	Y	461	ENSP00000318821:D461Y	ENSP00000318821:D461Y	D	-	1	0	GCC1	127010251	0.233000	0.23772	0.980000	0.43619	0.992000	0.81027	0.619000	0.24388	0.278000	0.22164	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	1	0	1	125	530	0	115	1	1	38	71	0	115	2		0	0	0	0	0	2	1	1	122	507	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCC1	79571	broad.mit.edu	37	7	127224482	127224482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224482T>G	ENST00000321407.2	-	1	1179	c.755A>C	c.(754-756)aAg>aCg	p.K252T	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1			38					CTGCAGCAGCTTCTGGAGCTC	0.567000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001583	missense			ENST00000321407.2	1	1	hg19	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016296	0.75161	.	.	ENSG00000179562	ENST00000321407	T	0.46819	0.86	5.91	5.91	0.95273	.	0.099286	0.64402	D	0.000002	T	0.60183	0.2249	M	0.72894	2.215	0.58432	D	0.999997	D	0.69078	0.997	P	0.60789	0.879	T	0.60667	-0.7218	10	0.33141	T	0.24	-24.8249	8.765	0.34698	0.0:0.0829:0.0:0.9171	.	252	Q96CN9	GCC1_HUMAN	T	252	ENSP00000318821:K252T	ENSP00000318821:K252T	K	-	2	0	GCC1	127011718	0.992000	0.36948	0.994000	0.49952	0.988000	0.76386	2.219000	0.42899	2.254000	0.74563	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	1	0	1	64	343	0	78	1	9.999093e-01	17	58	0	78	2		0	0	0	0	0	2	1	1	63	331	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCC1	79571	broad.mit.edu	37	7	127224652	127224652	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224652C>T	ENST00000321407.2	-	1	1009	c.585G>A	c.(583-585)caG>caA	p.Q195Q	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1			38					CCTCTAAGTCCTGTTTCATCT	0.527000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001819	synonymous_variant			ENST00000321407.2	1	1	hg19	CCDS5796.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	1	0	1	121	555	0	118	1	9.999999e-01	17	88	0	118	2		0	0	0	0	0	2	1	1	120	540	0	117	2								-3.116489	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GCC1	79571	broad.mit.edu	37	7	127225162	127225162	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127225162C>T	ENST00000321407.2	-	1	499	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1			38					GAAGCTGCTTCTTCTGGGTCT	0.552000											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001819	synonymous_variant			ENST00000321407.2	1	1	hg19	CCDS5796.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	1	0	1	133	610	0	159	1	9.999862e-01	21	53	0	159	2		0	0	0	0	0	2	1	1	134	603	0	159	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARF5	381	broad.mit.edu	37	7	127230185	127230185	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127230185G>A	ENST00000000233.5	+	4	478	c.324G>A	c.(322-324)caG>caA	p.Q108Q	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5			14					ATGAACTCCAGAAGATGGTGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000000233.5	1	1	hg19	CCDS34745.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	1	0	0	72	361	0	89	1	1	389	1030	0	89	2		0	0	0	0	0	2	1	1	70	353	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSCN3	29999	broad.mit.edu	37	7	127235810	127235810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127235810C>A	ENST00000265825.5	+	2	813	c.594C>A	c.(592-594)ttC>ttA	p.F198L	FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular			30					CACACCACTTCTTGTCCCATG	0.562000																								0							SO:0001583	missense			ENST00000265825.5	1	1	hg19	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496496	0.64186	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.52526	1.28;0.66	5.44	1.53	0.23141	Actin cross-linking (1);	0.000000	0.64402	D	0.000005	T	0.56529	0.1991	L	0.55103	1.725	0.32960	D	0.520866	D;D	0.76494	0.997;0.999	P;P	0.62740	0.906;0.874	T	0.64807	-0.6320	10	0.49607	T	0.09	-32.0539	10.5591	0.45135	0.0:0.6852:0.0:0.3148	.	64;198	B4DU68;Q9NQT6	.;FSCN3_HUMAN	L	198;64	ENSP00000265825:F198L;ENSP00000412243:F64L	ENSP00000265825:F198L	F	+	3	2	FSCN3	127023046	0.250000	0.23951	0.911000	0.35937	0.912000	0.54170	0.019000	0.13444	0.088000	0.17205	-0.813000	0.03139	TTC		TCGA-IB-7651-01A-11D-2154-08	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	1	0	1	82	345	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	80	336	0	85	2								-3.511185	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FSCN3	29999	broad.mit.edu	37	7	127238595	127238595	+	Missense_Mutation	SNP	G	G	A	rs144391719	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127238595G>A	ENST00000265825.5	+	4	1286	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular			30					TGCAGGGGGCGCTTCCTGGGC	0.582000																								0							SO:0001583	missense			ENST00000265825.5	1	1	hg19	CCDS34746.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.53	2.861201	0.51482	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.51574	1.39;0.7	5.94	5.94	0.96194	Fascin domain (1);Actin cross-linking (1);	0.000000	0.64402	D	0.000006	T	0.60051	0.2239	L	0.38531	1.155	0.38031	D	0.935151	B;D	0.89917	0.101;1.0	B;D	0.75484	0.026;0.986	T	0.63242	-0.6681	10	0.66056	D	0.02	-17.9026	15.8634	0.79043	0.0:0.0:1.0:0.0	.	222;356	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	356;222	ENSP00000265825:R356H;ENSP00000412243:R222H	ENSP00000265825:R356H	R	+	2	0	FSCN3	127025831	1.000000	0.71417	0.980000	0.43619	0.254000	0.26022	5.008000	0.63991	2.826000	0.97356	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	1	0	1	140	656	0	159		0	0	0	0	159	2		0	0	0	0	0	2	1	1	135	642	0	158	2								-20.000000	1	1	121410	15	47	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAX4	5078	broad.mit.edu	37	7	127255125	127255125	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127255125T>C	ENST00000341640.2	-	2	350	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	PAX4_ENST00000338516.3_Missense_Mutation_p.I57V|PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4			35					CGCCCTAGGATCTTGCTCACA	0.582000													Ovarian(113;737 1605 7858 27720 34092)											0							SO:0001583	missense			ENST00000341640.2	1	1	hg19	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700177	0.88924	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99519	-5.86;-5.86;-6.07	5.73	5.73	0.89815	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	M	0.82323	2.585	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;0.987;0.988;0.999	D;D;D;D	0.91635	0.999;0.983;0.99;0.995	D	0.98442	1.0587	10	0.87932	D	0	.	13.9767	0.64277	0.0:0.0:0.0:1.0	.	49;47;57;47	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	V	49;57;57;47	ENSP00000339906:I49V;ENSP00000344297:I57V;ENSP00000451923:I47V	ENSP00000344297:I57V	I	-	1	0	PAX4	127042361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.902000	0.87389	2.175000	0.68902	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1	1	0	1	81	369	0	107	0	0	0	1	0	107	2		0	0	0	0	0	2	1	1	80	366	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARL4A	10124	broad.mit.edu	37	7	12728429	12728429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12728429G>A	ENST00000396663.1	+	2	1032	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A			6					GAAACTACATGATATGATCAT	0.393000																								0							SO:0001583	missense			ENST00000396663.1	1	1	hg19	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037124	0.35893	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.58	3.69	0.42338	.	0.430161	0.24601	N	0.037122	T	0.70193	0.3196	N	0.17379	0.485	0.37735	D	0.92541	P	0.40731	0.728	B	0.43701	0.428	T	0.69558	-0.5113	10	0.02654	T	1	.	12.8581	0.57897	0.0794:0.0:0.9206:0.0	.	184	P40617	ARL4A_HUMAN	N	184	ENSP00000379897:D184N;ENSP00000349250:D184N;ENSP00000379899:D184N;ENSP00000379898:D184N;ENSP00000385236:D184N	ENSP00000349250:D184N	D	+	1	0	ARL4A	12694954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.434000	0.66526	1.273000	0.44346	0.585000	0.79938	GAT		TCGA-IB-7651-01A-11D-2154-08	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	1	0	0	69	322	0	73	1	9.999923e-01	28	54	0	73	2		0	0	0	0	0	2	1	1	67	301	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC4	64101	broad.mit.edu	37	7	127670198	127670198	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127670198C>T	ENST00000249363.3	-	2	753	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4			26					CGGTTGAAGGCGTAAGAGGGG	0.572000																								0							SO:0001583	missense			ENST00000249363.3	1	1	hg19	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412267	0.62511	.	.	ENSG00000128594	ENST00000249363	D	0.92752	-3.1	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	D	0.93396	0.7894	L	0.47078	1.49	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.92091	0.5680	10	0.31617	T	0.26	.	14.6035	0.68460	0.0:1.0:0.0:0.0	.	166	Q9HBW1	LRRC4_HUMAN	T	166	ENSP00000249363:A166T	ENSP00000249363:A166T	A	-	1	0	LRRC4	127457434	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.841000	0.69409	2.250000	0.74265	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	1	0	1	65	473	0	113	0	4.146505e-02	0	3	0	113	2		0	0	0	0	0	2	1	1	63	466	0	113	2								-19.999960	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
SND1	27044	broad.mit.edu	37	7	127714631	127714631	+	Silent	SNP	C	C	T	rs138799870	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127714631C>T	ENST00000354725.3	+	17	2051	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1			41					CCAACCTGTCCGTCCTGCTGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000354725.3	1	0	hg19	CCDS34747.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	0	0	1	19	136	0	39	1	1	99	406	0	39	2		0	0	0	0	0	2	1	9.999934e-01	19	135	0	39	2								-3.303716	1	1	121396	107	50	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.920000	1.000000	1.000000	0.995213	0.990000	1	9.900000e-01	1
SND1	27044	broad.mit.edu	37	7	127727023	127727023	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127727023C>A	ENST00000354725.3	+	21	2532	c.2338C>A	c.(2338-2340)Cta>Ata	p.L780I		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1			41					CCTGGGTACCCTATCACCTGC	0.597000																								0							SO:0001583	missense			ENST00000354725.3	1	1	hg19	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378334	0.42207	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.10099	2.91	5.96	2.77	0.32553	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);Maternal tudor protein (1);Tudor domain (1);	0.194552	0.45126	D	0.000396	T	0.09468	0.0233	L	0.33189	0.99	0.45378	D	0.998361	B	0.21309	0.054	B	0.35727	0.209	T	0.20672	-1.0268	10	0.26408	T	0.33	-7.5627	5.9818	0.19411	0.1567:0.6661:0.0:0.1772	.	780	Q7KZF4	SND1_HUMAN	I	780;770	ENSP00000346762:L780I	ENSP00000346762:L780I	L	+	1	2	SND1	127514259	0.994000	0.37717	0.967000	0.41034	0.808000	0.45660	2.872000	0.48467	0.862000	0.35528	0.655000	0.94253	CTA		TCGA-IB-7651-01A-11D-2154-08	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	1	0	1	50	310	0	79	1	1	149	567	0	79	2		0	0	0	0	0	2	1	1	49	302	0	79	2								-2.842327	1	1	121412	1	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
RBM28	55131	broad.mit.edu	37	7	127954833	127954833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127954833G>A	ENST00000223073.2	-	17	2143	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28			21					TTGGGGCCTCGGTGTGAGGGG	0.542000																								0							SO:0001587	stop_gained			ENST00000223073.2	0	1	hg19	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	41	8.805438	0.98960	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	6.17	6.17	0.99709	.	0.140158	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-8.5118	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	.	.	.	X	677;536	.	ENSP00000223073:R677X	R	-	1	2	RBM28	127742069	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.949000	0.56668	2.941000	0.99782	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	1	0	1	159	947	0	223	1	9.934115e-01	2	45	0	223	2		0	0	0	0	0	2	1	1	156	917	0	221	2								-2.690405	1	1	121412	1	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM28	55131	broad.mit.edu	37	7	127970908	127970908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127970908G>A	ENST00000223073.2	-	10	1207	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28			21					AAGACAATGCGGACATATTTG	0.468000																								0							SO:0001583	missense			ENST00000223073.2	1	1	hg19	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300519	0.40694	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.18810	2.19;2.19	5.52	1.76	0.24704	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.390886	0.25478	N	0.030399	T	0.23846	0.0577	M	0.88310	2.945	0.44289	D	0.997157	B;B	0.33022	0.394;0.044	B;B	0.27796	0.083;0.016	T	0.04229	-1.0967	10	0.54805	T	0.06	-0.0962	3.7697	0.08636	0.3412:0.0:0.4973:0.1615	.	224;365	E9PDD9;Q9NW13	.;RBM28_HUMAN	C	365;224	ENSP00000223073:R365C;ENSP00000390517:R224C	ENSP00000223073:R365C	R	-	1	0	RBM28	127758144	0.962000	0.33011	0.979000	0.43373	0.986000	0.74619	1.934000	0.40163	0.313000	0.23062	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	1	0	1	71	329	0	84	1	9.963854e-01	5	37	0	84	2		0	0	0	0	0	2	1	1	70	320	0	84	2								-2.663192	1	1	121412	1	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM28	55131	broad.mit.edu	37	7	127975620	127975620	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127975620C>T	ENST00000223073.2	-	8	1037	c.923G>A	c.(922-924)aGc>aAc	p.S308N	RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28			21					CTCCTCAGTGCTGGTATCACT	0.423000																								0							SO:0001583	missense			ENST00000223073.2	1	1	hg19	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216529	0.22373	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061	T;T;T	0.21361	2.92;2.01;2.13	5.52	1.45	0.22620	.	0.603956	0.19156	N	0.121337	T	0.12178	0.0296	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32587	-0.9901	10	0.20046	T	0.44	-0.1468	7.9257	0.29872	0.0:0.6765:0.0:0.3235	.	167;308	E9PDD9;Q9NW13	.;RBM28_HUMAN	N	308;167;277	ENSP00000223073:S308N;ENSP00000390517:S167N;ENSP00000418071:S277N	ENSP00000223073:S308N	S	-	2	0	RBM28	127762856	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	0.157000	0.16402	0.023000	0.15187	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	1	0	1	59	235	0	59	1	9.996457e-01	3	47	0	59	2		0	0	0	0	0	2	1	1	59	228	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM28	55131	broad.mit.edu	37	7	127978382	127978382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127978382C>T	ENST00000223073.2	-	5	577	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28			21					AAACCAAAACCGCGCATCTTC	0.418000																								0							SO:0001583	missense			ENST00000223073.2	1	1	hg19	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284381	0.95517	.	.	ENSG00000106344	ENST00000223073;ENST00000459726	D;T	0.83419	-1.72;1.69	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94420	0.7640	10	0.87932	D	0	-14.3256	17.3973	0.87449	0.0:1.0:0.0:0.0	.	155	Q9NW13	RBM28_HUMAN	S	155;189	ENSP00000223073:G155S;ENSP00000420503:G189S	ENSP00000223073:G155S	G	-	1	0	RBM28	127765618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.401000	0.73256	2.712000	0.92718	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	0	0	1	36	225	0	44	1	9.830699e-01	12	31	0	44	2		0	0	0	0	0	2	1	1	36	224	0	44	2								-2.719091	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999898	0.990000	1	9.900000e-01	1
IMPDH1	3614	broad.mit.edu	37	7	128038646	128038646	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128038646T>C	ENST00000480861.1	-	7	703	c.626A>G	c.(625-627)gAt>gGt	p.D209G	IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|IMPDH1_ENST00000338791.6_Missense_Mutation_p.D299G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1			22					CTCATCGCAATCATTGACGAT	0.547000											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000480861.1	1	1	hg19	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786326	0.31593	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.138458	0.64402	D	0.000004	D	0.89853	0.6835	L	0.50847	1.595	0.48830	D	0.999718	B;B;B;B;B;B;B;B	0.15473	0.005;0.001;0.001;0.001;0.004;0.006;0.013;0.001	B;B;B;B;B;B;B;B	0.21151	0.013;0.021;0.014;0.022;0.033;0.008;0.008;0.012	D	0.86034	0.1515	10	0.51188	T	0.08	-16.798	7.8776	0.29603	0.0:0.0913:0.0:0.9087	.	266;209;214;230;289;263;299;189	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	G	266;299;189;289;230;263;189;213;209;230	ENSP00000399400:D266G;ENSP00000345096:D299G;ENSP00000420803:D189G;ENSP00000346219:D289G;ENSP00000367989:D230G;ENSP00000265385:D263G;ENSP00000342438:D189G;ENSP00000417296:D213G;ENSP00000420185:D209G;ENSP00000419609:D230G	ENSP00000345096:D299G	D	-	2	0	IMPDH1	127825882	1.000000	0.71417	0.752000	0.31206	0.134000	0.20937	4.207000	0.58480	2.016000	0.59253	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	1	0	1	89	425	0	121	1	1	56	99	0	121	2		0	0	0	0	0	2	1	1	87	417	0	119	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
METTL2B	55798	broad.mit.edu	37	7	128119258	128119258	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119258A>C	ENST00000262432.8	+	3	286	c.249A>C	c.(247-249)aaA>aaC	p.K83N	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.K18N	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B			17					ACTTCTACAAAATCCACGAAA	0.328000																								0							SO:0001583	missense			ENST00000262432.8	0	1	hg19	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	A	8.219	0.801985	0.16397	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.03951	3.75;3.75;3.75	2.86	1.68	0.24146	.	0.134389	0.64402	D	0.000003	T	0.09598	0.0236	M	0.86343	2.81	0.27564	N	0.950084	B;B	0.33266	0.404;0.276	B;B	0.39531	0.302;0.142	T	0.10917	-1.0609	10	0.51188	T	0.08	-3.801	3.1863	0.06602	0.6121:0.2465:0.1414:0.0	.	18;83	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	N	77;83;18	ENSP00000418634:K77N;ENSP00000262432:K83N;ENSP00000418402:K18N	ENSP00000262432:K83N	K	+	3	2	METTL2B	127906494	1.000000	0.71417	0.652000	0.29579	0.643000	0.38383	1.418000	0.34782	0.332000	0.23536	0.333000	0.21579	AAA		TCGA-IB-7651-01A-11D-2154-08	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	0	0	0	9	306	0	53	1	3.665458e-01	8	33	0	53	2		0	0	0	0	0	2	1	9.868524e-01	9	250	0	80	2								-10.233440	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.350000	0.170000	1.000000	0.340000	0.403008	0.350000	0	2.500000e-01	5.100000e-01
METTL2B	55798	broad.mit.edu	37	7	128119557	128119557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119557G>A	ENST00000262432.8	+	3	585	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000473488.1_3'UTR|METTL2B_ENST00000480046.1_Missense_Mutation_p.R118Q	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B			17					GCCACCTACCGAATACTGGAG	0.413000																								0							SO:0001583	missense			ENST00000262432.8	0	1	hg19	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382232	0.61845	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.16743	3.45;2.32;2.32	2.52	1.62	0.23740	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	M	0.80332	2.49	0.48341	D	0.999634	D;D	0.76494	0.997;0.999	P;D	0.66979	0.875;0.948	T	0.07751	-1.0756	10	0.59425	D	0.04	0.0705	7.4037	0.26979	0.1419:0.0:0.8581:0.0	.	118;183	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	Q	177;183;118	ENSP00000418634:R177Q;ENSP00000262432:R183Q;ENSP00000418402:R118Q	ENSP00000262432:R183Q	R	+	2	0	METTL2B	127906793	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.022000	0.93678	0.407000	0.25591	-1.038000	0.02383	CGA		TCGA-IB-7651-01A-11D-2154-08	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	0	0	0	20	288	0	58	0	7.857370e-02	0	7	0	58	2		0	0	0	0	0	2	1	9.999402e-01	14	218	0	71	2								-3.221002	1	1	121246	4	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.780000	0.490000	1.000000	1.000000	0.791437	0.780000	0	6.200000e-01	1
CALU	813	broad.mit.edu	37	7	128394377	128394377	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128394377G>T	ENST00000249364.4	+	3	385	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	CALU_ENST00000538546.1_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y|CALU_ENST00000542996.2_Intron|CALU_ENST00000535623.1_Missense_Mutation_p.D103Y|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000449187.2_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin			10					TGAGCTCAAAGACTGGATTAA	0.448000																								0							SO:0001583	missense			ENST00000249364.4	1	1	hg19	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536564|3.536564	0.65085|0.65085	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000342367|ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	.|T;T;T;T	.|0.70869	.|-0.52;-0.52;-0.52;-0.52	6.11|6.11	6.11|6.11	0.99139|0.99139	.|EF-hand-like domain (1);	.|0.996520	.|0.08137	.|N	.|0.992275	.|T	.|0.77089	.|0.4079	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	.|B	.|0.26120	.|0.142	.|B	.|0.41988	.|0.372	.|T	.|0.63607	.|-0.6599	.|10	.|0.54805	.|T	.|0.06	.|-4.93	18.228|18.228	0.89924|0.89924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95	.|O43852	.|CALU_HUMAN	.|Y	-1|103;95;95;95;103	.|ENSP00000439139:D103Y;ENSP00000442110:D95Y;ENSP00000249364:D95Y;ENSP00000420381:D103Y	.|ENSP00000249364:D95Y	.|D	+|+	.|1	.|0	CALU|CALU	128181613|128181613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.547000|2.547000	0.45786|0.45786	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	.|GAC		TCGA-IB-7651-01A-11D-2154-08	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	1	0	1	66	334	0	78	1	1	101	870	0	78	2		0	0	0	0	0	2	1	1	65	326	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CALU	813	broad.mit.edu	37	7	128407587	128407587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128407587C>T	ENST00000249364.4	+	6	823	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CALU_ENST00000538546.1_Missense_Mutation_p.R90W|CALU_ENST00000479257.1_Missense_Mutation_p.R249W|CALU_ENST00000542996.2_Missense_Mutation_p.R249W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.R241W	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin			10					TGTTGAGTTTCGGGATAAGAA	0.488000																								0							SO:0001583	missense			ENST00000249364.4	1	1	hg19	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.943568|3.943568	0.73672|0.73672	0.0|0.0	2.33E-4|2.33E-4	ENSG00000128595|ENSG00000128595	ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257|ENST00000493278	T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55|.	5.44|5.44	5.44|5.44	0.79542|0.79542	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82130|0.82130	0.4970|0.4970	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.86073|0.86073	0.1539|0.1539	10|5	0.39692|.	T|.	0.17|.	-2.4976|-2.4976	11.8068|11.8068	0.52161|0.52161	0.1753:0.8247:0.0:0.0|0.1753:0.8247:0.0:0.0	.|.	249;241|.	D6QS48;O43852|.	.;CALU_HUMAN|.	W|L	249;90;241;241;249|72	ENSP00000438248:R249W;ENSP00000438994:R90W;ENSP00000249364:R241W;ENSP00000408838:R241W;ENSP00000420381:R249W|.	ENSP00000249364:R241W|.	R|S	+|+	1|2	2|0	CALU|CALU	128194823|128194823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.578000|2.578000	0.46051|0.46051	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	CGG|TCG		TCGA-IB-7651-01A-11D-2154-08	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	1	0	1	59	287	0	115	1	1	250	1410	0	115	2		0	0	0	0	0	2	1	1	56	285	0	115	2								-3.359807	1	1	121412	2	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPN1SW	611	broad.mit.edu	37	7	128415770	128415770	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128415770C>A	ENST00000249389.2	-	1	74	c.75G>T	c.(73-75)caG>caT	p.Q25H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive			19					CAATGTGGTACTGAGGCCCAT	0.537000																								0							SO:0001583	missense			ENST00000249389.2	1	1	hg19	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400767	0.62177	.	.	ENSG00000128617	ENST00000249389	T	0.37915	1.17	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	H	0.96576	3.845	0.49213	D	0.999768	D	0.71674	0.998	D	0.87578	0.998	T	0.77029	-0.2739	10	0.87932	D	0	.	9.0173	0.36177	0.0:0.9022:0.0:0.0978	.	25	P03999	OPSB_HUMAN	H	25	ENSP00000249389:Q25H	ENSP00000249389:Q25H	Q	-	3	2	OPN1SW	128203006	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.381000	0.44336	2.538000	0.85594	0.462000	0.41574	CAG		TCGA-IB-7651-01A-11D-2154-08	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	1	0	1	85	456	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	81	446	0	96	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC136	64753	broad.mit.edu	37	7	128457910	128457910	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128457910C>T	ENST00000297788.4	+	17	3829	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S	CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000487361.1_Silent_p.S515S|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Silent_p.S446S	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136			24					AGACGTCGTCCTAATGCAGGT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000297788.4	1	1	hg19	CCDS47704.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	1	0	0	109	621	0	171	0	2.275625e-02	0	2	0	171	2		0	0	0	0	0	2	1	1	104	602	0	170	2								-3.221983	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNC	2318	broad.mit.edu	37	7	128470956	128470956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128470956C>T	ENST00000325888.8	+	1	526	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma			128					GTTCCATCCGCGCCCCAACTT	0.652000																								0							SO:0001583	missense			ENST00000325888.8	1	1	hg19	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586300	0.86851	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.60672	0.17;0.17	4.49	3.59	0.41128	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	M	0.87547	2.89	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77619	-0.2520	10	0.87932	D	0	.	8.9211	0.35612	0.1678:0.6698:0.1624:0.0	.	89;89	Q14315-2;Q14315	.;FLNC_HUMAN	C	89	ENSP00000327145:R89C;ENSP00000344002:R89C	ENSP00000327145:R89C	R	+	1	0	FLNC	128258192	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.195000	0.51013	0.978000	0.38470	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0	0	0	10	315	0	87	0	1.588560e-01	0	21	0	87	2		0	0	0	0	0	2	1	9.967513e-01	10	311	0	86	2								-10.454620	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.380000	0.190000	1.000000	0.350000	0.426223	0.380000	0	2.700000e-01	5.400000e-01
FLNC	2318	broad.mit.edu	37	7	128481264	128481264	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128481264T>C	ENST00000325888.8	+	12	2115	c.1854T>C	c.(1852-1854)tgT>tgC	p.C618C	FLNC_ENST00000346177.6_Silent_p.C618C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma			128					AGATCGAATGTGACGACAAGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000325888.8	1	1	hg19	CCDS43644.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	0	110	512	0	130	1	9.185182e-01	2	20	0	130	2		0	0	0	0	0	2	1	1	109	501	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNC	2318	broad.mit.edu	37	7	128489453	128489453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489453G>A	ENST00000325888.8	+	30	5281	c.5020G>A	c.(5020-5022)Ggt>Agt	p.G1674S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma			128					CAAGGCAGCCGGTGAGGGGAA	0.607000																								0							SO:0001583	missense			ENST00000325888.8	1	1	hg19	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844753	0.91197	0.0	1.17E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94184	-3.37;-3.37	5.41	4.51	0.55191	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.92367	3.3	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97636	1.0145	10	0.48119	T	0.1	.	16.0085	0.80380	0.0:0.1347:0.8653:0.0	.	1674;1674	Q14315-2;Q14315	.;FLNC_HUMAN	S	1674	ENSP00000327145:G1674S;ENSP00000344002:G1674S	ENSP00000327145:G1674S	G	+	1	0	FLNC	128276689	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	9.869000	0.99810	1.245000	0.43885	0.655000	0.94253	GGT		TCGA-IB-7651-01A-11D-2154-08	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1	48	236	0	66	1	9.998801e-01	5	64	0	66	2		0	0	0	0	0	2	1	1	45	227	0	66	2								-2.967728	1	1	121268	12	43	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNC	2318	broad.mit.edu	37	7	128489608	128489608	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489608C>T	ENST00000325888.8	+	30	5436	c.5175C>T	c.(5173-5175)atC>atT	p.I1725I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I1725I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma			128					GTGAGCACATCCCCAACAGCC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000325888.8	1	1	hg19	CCDS43644.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1	52	270	0	85	1	9.968524e-01	11	37	0	85	2		0	0	0	0	0	2	1	1	49	265	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNC	2318	broad.mit.edu	37	7	128494556	128494556	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128494556G>A	ENST00000325888.8	+	41	7078	c.6817G>A	c.(6817-6819)Gcc>Acc	p.A2273T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma			128					CGAGGACAGCGCCTACAGCGT	0.632000																								0							SO:0001583	missense			ENST00000325888.8	1	1	hg19	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615827	0.28801	0.0	2.35E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.80653	-1.4;-1.4	4.99	4.99	0.66335	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059482	0.64402	D	0.000002	T	0.47173	0.1431	N	0.00321	-1.65	0.42726	D	0.993695	B;B	0.12630	0.004;0.006	B;B	0.11329	0.003;0.006	T	0.51896	-0.8647	10	0.30854	T	0.27	.	8.8771	0.35352	0.1742:0.0:0.8258:0.0	.	2240;2273	Q14315-2;Q14315	.;FLNC_HUMAN	T	2273;2240	ENSP00000327145:A2273T;ENSP00000344002:A2240T	ENSP00000327145:A2273T	A	+	1	0	FLNC	128281792	0.966000	0.33281	0.698000	0.30274	0.926000	0.56050	2.589000	0.46145	2.301000	0.77427	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1	19	48	0	14	0	9.999682e-01	1	51	0	14	2		0	0	0	0	0	2	1	9.999973e-01	19	48	0	11	2								-20.000000	1	1	121124	12	40	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FLNC	2318	broad.mit.edu	37	7	128496602	128496602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496602T>C	ENST00000325888.8	+	44	7543	c.7282T>C	c.(7282-7284)Tcc>Ccc	p.S2428P	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma			128					CCAGCCAGCGTCCTTTGCCGT	0.652000																								0							SO:0001583	missense			ENST00000325888.8	1	1	hg19	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361949	0.61403	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85088	-1.94;-1.94	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.89095	3.005	0.58432	D	0.999995	D;P	0.76494	0.999;0.908	D;P	0.87578	0.998;0.791	D	0.93234	0.6620	10	0.41790	T	0.15	.	14.8887	0.70590	0.0:0.0:0.0:1.0	.	2395;2428	Q14315-2;Q14315	.;FLNC_HUMAN	P	2428;2395	ENSP00000327145:S2428P;ENSP00000344002:S2395P	ENSP00000327145:S2428P	S	+	1	0	FLNC	128283838	1.000000	0.71417	0.950000	0.38849	0.308000	0.27856	7.970000	0.88000	1.969000	0.57287	0.455000	0.32223	TCC		TCGA-IB-7651-01A-11D-2154-08	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1	61	449	0	101	1	9.979818e-01	2	68	0	101	2		0	0	0	0	0	2	1	1	61	444	0	99	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999870	0.990000	1	9.900000e-01	1
FLNC	2318	broad.mit.edu	37	7	128496609	128496609	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496609C>T	ENST00000325888.8	+	44	7550	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma			128					GCGTCCTTTGCCGTGCAGCTG	0.647000																								0							SO:0001583	missense			ENST00000325888.8	1	1	hg19	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221215	0.39201	0.0	2.38E-4	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84589	-1.87;-1.87	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.116802	0.56097	D	0.000026	D	0.87633	0.6226	L	0.59912	1.85	0.47905	D	0.999546	P;P	0.46020	0.55;0.871	B;P	0.54431	0.412;0.752	D	0.84706	0.0731	10	0.21540	T	0.41	.	14.983	0.71324	0.143:0.857:0.0:0.0	.	2397;2430	Q14315-2;Q14315	.;FLNC_HUMAN	V	2430;2397	ENSP00000327145:A2430V;ENSP00000344002:A2397V	ENSP00000327145:A2430V	A	+	2	0	FLNC	128283845	0.998000	0.40836	0.969000	0.41365	0.152000	0.21847	4.005000	0.57075	2.432000	0.82394	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	1	0	1	84	403	0	100	1	9.997389e-01	14	46	0	100	2		0	0	0	0	0	2	1	1	83	401	0	98	2								-3.252074	1	0	121122	11	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6V1F	9296	broad.mit.edu	37	7	128505495	128505495	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128505495C>T	ENST00000249289.4	+	2	302	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ATP6V1F_ENST00000492758.1_Missense_Mutation_p.R103W|RP11-309L24.4_ENST00000461420.1_lincRNA|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F			3					AGAGATGGTGCGGCATGCCCT	0.587000																								0							SO:0001583	missense			ENST00000249289.4	1	1	hg19	CCDS5807.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242052	0.79912	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	T;T	0.51817	0.69;0.69	5.02	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	H	0.97611	4.04	0.80722	D	1	P	0.35272	0.493	B	0.43478	0.421	T	0.76372	-0.2983	10	0.87932	D	0	-11.3352	12.7996	0.57578	0.425:0.575:0.0:0.0	.	75	Q16864	VATF_HUMAN	W	75;103	ENSP00000249289:R75W;ENSP00000417378:R103W	ENSP00000249289:R75W	R	+	1	2	ATP6V1F	128292731	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	3.472000	0.53114	0.455000	0.26910	0.591000	0.81541	CGG		TCGA-IB-7651-01A-11D-2154-08	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	1	0	1	38	209	0	58	1	1	260	1152	0	58	2		0	0	0	0	0	2	1	1	36	202	0	58	2								-19.395850	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
SMO	6608	broad.mit.edu	37	7	128852143	128852143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128852143C>T	ENST00000249373.3	+	12	2495	c.2215C>T	c.(2215-2217)Cca>Tca	p.P739S	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor			64				Fluocinonide(DB01047)|Vismodegib(DB08828)	CCCATTCTGCCCAGAGCCCAG	0.677000			Mis		skin basal cell										Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0							SO:0001583	missense			ENST00000249373.3	1	1	hg19	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473417	0.63737	.	.	ENSG00000128602	ENST00000249373	T	0.78595	-1.19	5.41	5.41	0.78517	.	0.214510	0.49916	D	0.000135	T	0.61800	0.2376	N	0.14661	0.345	0.53005	D	0.999968	P	0.39480	0.675	B	0.33960	0.173	T	0.64799	-0.6322	10	0.33940	T	0.23	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	739	Q99835	SMO_HUMAN	S	739	ENSP00000249373:P739S	ENSP00000249373:P739S	P	+	1	0	SMO	128639379	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	6.314000	0.72848	2.520000	0.84964	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	1	0	0	18	179	0	32	1	9.602117e-01	3	53	0	32	2		0	0	0	0	0	2	1	9.999806e-01	17	173	0	30	2								-19.999990	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.670000	1.000000	1.000000	0.952900	0.990000	1	8.600000e-01	1
AHCYL2	23382	broad.mit.edu	37	7	129019543	129019543	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129019543C>T	ENST00000325006.3	+	2	482	c.428C>T	c.(427-429)tCt>tTt	p.S143F	AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2			22					GGACGTCGCTCTTTGTCTCGT	0.428000													Pancreas(160;1736 1964 29875 40941 45605)											0							SO:0001583	missense			ENST00000325006.3	1	1	hg19	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.035825|5.035825	0.93630|0.93630	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000460109;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.14;-1.12;-1.12;-1.12;-0.89	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83073|0.83073	0.5175|0.5175	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D;D	.|0.76494	.|0.987;0.987;0.999;0.987;0.999	.|P;P;D;P;D	.|0.72338	.|0.878;0.878;0.949;0.878;0.977	D|D	0.85057|0.85057	0.0932|0.0932	5|10	.|0.87932	.|D	.|0	-14.9057|-14.9057	18.0999|18.0999	0.89503|0.89503	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|40;41;143;40;142	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	F|F	50|143;142;62;41;40;41;40;41	.|ENSP00000315931:S143F;ENSP00000413639:S142F;ENSP00000431787:S62F;ENSP00000420459:S40F;ENSP00000405267:S41F;ENSP00000420801:S40F;ENSP00000419608:S41F	.|ENSP00000315931:S143F	L|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128806779|128806779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.696000|7.696000	0.84270|0.84270	2.527000|2.527000	0.85204|0.85204	0.555000|0.555000	0.69702|0.69702	CTT|TCT		TCGA-IB-7651-01A-11D-2154-08	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1	1	0	1	35	155	0	46	1	1	107	162	0	46	2		0	0	0	0	0	2	1	1	33	155	0	46	2								-3.308683	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NRF1	4899	broad.mit.edu	37	7	129394908	129394908	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129394908G>A	ENST00000393232.1	+	11	1516	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	RNA5SP244_ENST00000390936.1_RNA|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1			24					GACCAGCCTCGCCCAGGGCAA	0.612000																								0							SO:0001583	missense			ENST00000393232.1	1	1	hg19	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589531	0.46214	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.27	5.27	0.74061	Nuclear respiratory factor-1, activation binding domain (1);	0.160042	0.56097	D	0.000034	T	0.30448	0.0765	N	0.08118	0	0.47905	D	0.999543	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.003	T	0.14952	-1.0454	9	0.19590	T	0.45	-12.9813	11.3646	0.49664	0.0828:0.0:0.9172:0.0	.	486;467	Q96AN2;Q16656	.;NRF1_HUMAN	T	467;401;306;467;486;467;486	.	ENSP00000223190:A467T	A	+	1	0	NRF1	129182144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.462000	0.83206	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	1	0	0	20	338	0	62	1	7.177201e-01	4	40	0	62	2		0	0	0	0	0	2	1	9.999952e-01	20	333	0	61	2								-5.638260	1	1	121412	2	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.670000	0.420000	1.000000	0.660000	0.697628	0.670000	0	5.300000e-01	8.600000e-01
ZC3HC1	51530	broad.mit.edu	37	7	129680929	129680929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129680929C>T	ENST00000358303.4	-	3	355	c.271G>A	c.(271-273)Gca>Aca	p.A91T	ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A91T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1			22	Melanoma(18;0.0435)				GGCTTACCTGCCCATTTCAAA	0.408000													Melanoma(115;540 1606 16325 28853 48167)											0							SO:0001583	missense			ENST00000358303.4	1	1	hg19	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337788	0.81911	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.43294	1.54;0.99;1.55;0.95	5.8	5.8	0.92144	Zinc finger, C3HC-like (1);	0.412542	0.25695	N	0.028910	T	0.48352	0.1495	L	0.45581	1.43	0.80722	D	1	P	0.48998	0.918	P	0.51297	0.665	T	0.17289	-1.0374	10	0.14656	T	0.56	-5.7662	18.6258	0.91338	0.0:1.0:0.0:0.0	.	91	Q86WB0	NIPA_HUMAN	T	91;91;70;91;91	ENSP00000351052:A91T;ENSP00000353933:A91T;ENSP00000309301:A70T;ENSP00000418533:A91T	ENSP00000309301:A70T	A	-	1	0	ZC3HC1	129468165	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.335000	0.65929	2.730000	0.93505	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	1	0	1	163	613	0	190	1	9.993844e-01	18	25	0	190	2		0	0	0	0	0	2	1	1	156	585	0	187	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPA5	93979	broad.mit.edu	37	7	130001054	130001054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130001054G>A	ENST00000485477.1	+	6	1632	c.503G>A	c.(502-504)aGc>aAc	p.S168N	CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N|CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5			23	Melanoma(18;0.0435)				ATTGGCAACAGCTTTGAAAAC	0.403000																								0							SO:0001583	missense			ENST00000485477.1	1	1	hg19	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010102	0.75046	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	6.17	5.25	0.73442	Peptidase M14, carboxypeptidase A (3);	0.074008	0.56097	D	0.000021	T	0.70334	0.3212	H	0.98048	4.135	0.32261	N	0.570195	D;D	0.67145	0.996;0.993	D;D	0.68621	0.909;0.959	T	0.83180	-0.0089	9	.	.	.	.	16.7161	0.85397	0.0:0.1395:0.8605:0.0	.	168;168	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	N	168	ENSP00000347549:S168N;ENSP00000418183:S168N;ENSP00000419025:S168N;ENSP00000420237:S168N;ENSP00000393045:S168N;ENSP00000417314:S168N;ENSP00000376907:S168N	.	S	+	2	0	CPA5	129788290	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.210000	0.58500	2.941000	0.99782	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	1	0	1	42	223	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	42	222	0	35	2								-19.992340	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CPA5	93979	broad.mit.edu	37	7	130002306	130002306	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130002306G>T	ENST00000485477.1	+	7	1691	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S|CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5			23	Melanoma(18;0.0435)				TCGGCACCCAGCCATCTGGAT	0.552000																								0							SO:0001583	missense			ENST00000485477.1	1	1	hg19	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441848	0.96187	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.87	5.87	0.94306	Peptidase M14, carboxypeptidase A (4);	0.088968	0.49305	D	0.000146	T	0.33059	0.0850	M	0.67953	2.075	0.44966	D	0.997988	D;D	0.64830	0.987;0.994	D;D	0.71656	0.969;0.974	T	0.00189	-1.1939	9	.	.	.	.	19.1932	0.93675	0.0:0.0:1.0:0.0	.	188;188	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	S	188	ENSP00000347549:A188S;ENSP00000418183:A188S;ENSP00000419025:A188S;ENSP00000420237:A188S;ENSP00000393045:A188S;ENSP00000417314:A188S;ENSP00000376907:A188S	.	A	+	1	0	CPA5	129789542	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.346000	0.97056	2.777000	0.95525	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	0	0	0	10	273	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	9.966803e-01	10	267	0	66	2								-10.891750	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.440000	0.220000	1.000000	0.410000	0.479868	0.440000	0	3.100000e-01	6.200000e-01
CPA1	1357	broad.mit.edu	37	7	130022008	130022008	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130022008G>T	ENST00000011292.3	+	4	591	c.441G>T	c.(439-441)caG>caT	p.Q147H	CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)			21	Melanoma(18;0.0435)				GCAAGATCCAGATTGGCAACA	0.522000																								0							SO:0001583	missense			ENST00000011292.3	1	1	hg19	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.064932	0.20067	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.46	2.23	0.28157	Peptidase M14, carboxypeptidase A (2);	0.558393	0.20964	N	0.082509	T	0.08537	0.0212	L	0.37897	1.145	0.35752	D	0.819525	B;B	0.10296	0.002;0.003	B;B	0.13407	0.009;0.005	T	0.12016	-1.0564	10	0.40728	T	0.16	.	8.373	0.32425	0.0889:0.298:0.6131:0.0	.	59;147	B4DDW9;P15085	.;CBPA1_HUMAN	H	59;147;59;59	ENSP00000420218:Q59H;ENSP00000011292:Q147H;ENSP00000419408:Q59H;ENSP00000419497:Q59H	ENSP00000011292:Q147H	Q	+	3	2	CPA1	129809244	1.000000	0.71417	0.990000	0.47175	0.571000	0.35966	2.309000	0.43699	1.296000	0.44742	-0.305000	0.09177	CAG		TCGA-IB-7651-01A-11D-2154-08	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	1	0	1	55	260	0	55	0	1	0	2174	0	55	2		0	0	0	0	0	2	1	1	55	258	0	55	2								-3.383682	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPA1	1357	broad.mit.edu	37	7	130027777	130027777	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130027777G>A	ENST00000011292.3	+	10	1335	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	CPA1_ENST00000484324.1_Silent_p.Q307Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)			21	Melanoma(18;0.0435)				CAGCCTCCCAGATCATCCCCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000011292.3	1	1	hg19	CCDS5820.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	1	0	0	320	1301	0	332	0	1	1	3487	0	332	2		0	0	0	0	0	2	1	1	314	1258	0	328	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLF14	136259	broad.mit.edu	37	7	130418143	130418143	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418143C>T	ENST00000310992.4	-	1	745	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14			6	Melanoma(18;0.0435)				GCCAGCTCGTCGGAACGCGTA	0.637000																								0							SO:0001583	missense			ENST00000310992.4	0	1	hg19	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269922	0.95429	.	.	ENSG00000174595	ENST00000310992	T	0.26067	1.76	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003517	T	0.34135	0.0887	N	0.14661	0.345	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.36529	-0.9744	10	0.87932	D	0	.	15.3231	0.74139	0.0:1.0:0.0:0.0	.	240	Q8TD94	KLF14_HUMAN	N	240	ENSP00000310878:D240N	ENSP00000310878:D240N	D	-	1	0	KLF14	130068683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.374000	0.81015	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	1	0	0	14	72	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.997761e-01	14	68	0	17	2								-3.398970	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998763	0.990000	1	9.900000e-01	1
KLF14	136259	broad.mit.edu	37	7	130418358	130418358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418358C>T	ENST00000310992.4	-	1	530	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14			6	Melanoma(18;0.0435)				TAGGGCCCCTCCAGAGAACCC	0.761000																								0							SO:0001583	missense			ENST00000310992.4	0	1	hg19	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	c	0.477	-0.881645	0.02530	.	.	ENSG00000174595	ENST00000310992	T	0.09817	2.94	3.56	-2.17	0.07059	.	.	.	.	.	T	0.03915	0.0110	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43861	-0.9365	9	0.02654	T	1	.	5.1683	0.15098	0.0:0.3054:0.1565:0.538	.	168	Q8TD94	KLF14_HUMAN	E	168	ENSP00000310878:G168E	ENSP00000310878:G168E	G	-	2	0	KLF14	130068898	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.555000	0.05999	-0.670000	0.05282	-0.261000	0.10672	GGA		TCGA-IB-7651-01A-11D-2154-08	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	0	0	0	3	38	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	7.876870e-01	3	35	0	9	2								-7.747486	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.930000	0.280000	1.000000	1.000000	0.818313	0.930000	1	5.400000e-01	1
MKLN1	4289	broad.mit.edu	37	7	131151154	131151154	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131151154G>T	ENST00000352689.6	+	15	1948	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs			28	Melanoma(18;0.162)				GGCATTGCAAGTACCTCATAA	0.333000																								0							SO:0001583	missense			ENST00000352689.6	1	1	hg19	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068109	0.55539	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.49139	1.79;0.79	5.8	3.81	0.43845	.	0.045341	0.85682	D	0.000000	T	0.52869	0.1761	M	0.71036	2.16	0.58432	D	0.999998	B;P;B;P	0.49090	0.399;0.624;0.314;0.919	B;B;B;P	0.51742	0.209;0.206;0.134;0.678	T	0.53027	-0.8496	10	0.59425	D	0.04	-15.6556	5.1238	0.14875	0.4208:0.0:0.5792:0.0	.	636;613;544;126	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	N	544;636;126	ENSP00000398094:K544N;ENSP00000323527:K636N	ENSP00000323527:K636N	K	+	3	2	MKLN1	130801694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.337000	0.59310	0.721000	0.32231	0.650000	0.86243	AAG		TCGA-IB-7651-01A-11D-2154-08	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	1	0	1	58	286	0	60	1	1	37	89	0	60	2		0	0	0	0	0	2	1	1	57	281	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PODXL	5420	broad.mit.edu	37	7	131189129	131189129	+	Missense_Mutation	SNP	C	C	T	rs139425581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189129C>T	ENST00000378555.3	-	9	1865	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	PODXL_ENST00000322985.9_Missense_Mutation_p.V508I|PODXL_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000541194.1_Missense_Mutation_p.V542I			O00592	PODXL_HUMAN	podocalyxin-like			24	Melanoma(18;0.162)				TCCAGAGGGACGATCCAGCTG	0.582000																								0							SO:0001583	missense			ENST00000378555.3	1	1	hg19	CCDS34755.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	29.8	5.032775	0.93575	0.001589	0.0	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.42086	0.1187	M	0.74881	2.28	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.47381	-0.9122	10	0.87932	D	0	-42.4028	12.0939	0.53744	0.0:0.9222:0.0:0.0778	.	508;540	O00592-2;O00592	.;PODXL_HUMAN	I	542;508;498;540;508	ENSP00000440518:V542I;ENSP00000442655:V508I;ENSP00000367817:V540I;ENSP00000319782:V508I	ENSP00000319782:V508I	V	-	1	0	PODXL	130839669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.662000	0.90505	0.555000	0.69702	GTC		TCGA-IB-7651-01A-11D-2154-08	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	1	0	1	55	283	0	71	1	9.999985e-01	19	85	0	71	2		0	0	0	0	0	2	1	1	55	278	0	70	2								-20.000000	1	1	121412	20	46	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PODXL	5420	broad.mit.edu	37	7	131189241	131189241	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189241T>C	ENST00000378555.3	-	9	1753	c.1506A>G	c.(1504-1506)acA>acG	p.T502T	PODXL_ENST00000322985.9_Silent_p.T470T|PODXL_ENST00000537928.1_Silent_p.T470T|PODXL_ENST00000541194.1_Silent_p.T504T			O00592	PODXL_HUMAN	podocalyxin-like			24	Melanoma(18;0.162)				CATTCTCCACTGTCTGCAGCT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000378555.3	1	1	hg19	CCDS34755.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	1	0	1	76	405	0	121	1	9.999985e-01	16	88	0	121	2		0	0	0	0	0	2	1	1	74	399	0	120	2								-20.000000	1	1	121412	37	48	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PODXL	5420	broad.mit.edu	37	7	131196124	131196124	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131196124C>T	ENST00000378555.3	-	2	416	c.169G>A	c.(169-171)Gct>Act	p.A57T	PODXL_ENST00000322985.9_Missense_Mutation_p.A57T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T|PODXL_ENST00000541194.1_Missense_Mutation_p.A59T			O00592	PODXL_HUMAN	podocalyxin-like			24	Melanoma(18;0.162)				GTATCTGTAGCCATGATGGTG	0.512000																								0							SO:0001583	missense			ENST00000378555.3	1	1	hg19	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687178	0.14973	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	2.34	-4.67	0.03319	.	.	.	.	.	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.002	T	0.13791	-1.0496	9	0.27785	T	0.31	0.3962	4.1262	0.10128	0.0:0.265:0.3281:0.4069	.	57;57	O00592-2;O00592	.;PODXL_HUMAN	T	59;57;47;57;57	ENSP00000440518:A59T;ENSP00000442655:A57T;ENSP00000367817:A57T;ENSP00000319782:A57T	ENSP00000319782:A57T	A	-	1	0	PODXL	130846664	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.318000	0.00514	-1.236000	0.02542	-0.451000	0.05528	GCT		TCGA-IB-7651-01A-11D-2154-08	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	1	0	1	64	371	0	67	1	9.998896e-01	18	61	0	67	2		0	0	0	0	0	2	1	1	63	356	0	66	2								-3.319884	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA4	91584	broad.mit.edu	37	7	131829899	131829899	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131829899C>T	ENST00000359827.3	-	29	6166	c.5204G>A	c.(5203-5205)cGc>cAc	p.R1735H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H			Q9HCM2	PLXA4_HUMAN	plexin A4			45					CCAGGTATGGCGGACGTGCGG	0.592000																								0							SO:0001583	missense			ENST00000359827.3	0	1	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995290	0.74703	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11604	2.76;2.76	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055041	0.64402	D	0.000003	T	0.34308	0.0893	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.06058	-1.0848	10	0.59425	D	0.04	.	18.3526	0.90343	0.0:1.0:0.0:0.0	.	1735	Q9HCM2	PLXA4_HUMAN	H	1735	ENSP00000323194:R1735H;ENSP00000352882:R1735H	ENSP00000323194:R1735H	R	-	2	0	PLXNA4	131480439	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	7.776000	0.85560	2.426000	0.82243	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	0	0	1	34	285	1	73	0	1.219017e-02	0	2	1	73	2		0	0	0	0	0	2	1	9.968906e-01	34	278	1	68	16								-2.429494	0	1	121412	1	28	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.900000	1.000000	1.000000	0.994051	0.990000	1	9.900000e-01	1
PLXNA4	91584	broad.mit.edu	37	7	131853310	131853310	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131853310G>A	ENST00000359827.3	-	22	5001	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C			Q9HCM2	PLXA4_HUMAN	plexin A4			45					TTCTCCACACGCTCCTGCCGG	0.602000																								0							SO:0001583	missense			ENST00000359827.3	1	1	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392914	0.62066	0.0	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.12147	2.71;2.71	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050603	0.85682	D	0.000000	T	0.15869	0.0382	L	0.40543	1.245	0.80722	D	1	B	0.18610	0.029	B	0.13407	0.009	T	0.02546	-1.1143	10	0.56958	D	0.05	.	19.3569	0.94418	0.0:0.0:1.0:0.0	.	1347	Q9HCM2	PLXA4_HUMAN	C	1347	ENSP00000323194:R1347C;ENSP00000352882:R1347C	ENSP00000323194:R1347C	R	-	1	0	PLXNA4	131503850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.333000	0.65917	2.582000	0.87167	0.462000	0.41574	CGT		TCGA-IB-7651-01A-11D-2154-08	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	0	20	231	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.999955e-01	20	228	0	40	2								-3.318807	1	1	121340	3	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.960000	0.600000	1.000000	1.000000	0.905604	0.960000	1	7.600000e-01	1
PLXNA4	91584	broad.mit.edu	37	7	131859635	131859635	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131859635G>T	ENST00000359827.3	-	21	4881	c.3919C>A	c.(3919-3921)Ctg>Atg	p.L1307M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M			Q9HCM2	PLXA4_HUMAN	plexin A4			45					GCTCCATCCAGGTCACTGGTC	0.582000																								0							SO:0001583	missense			ENST00000359827.3	1	1	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019699	0.54576	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01295	5.04;5.04	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.03434	0.0099	L	0.42581	1.335	0.80722	D	1	P	0.51933	0.949	P	0.53401	0.725	T	0.57171	-0.7857	10	0.46703	T	0.11	.	12.8721	0.57970	0.0743:0.0:0.9257:0.0	.	1307	Q9HCM2	PLXA4_HUMAN	M	1307	ENSP00000323194:L1307M;ENSP00000352882:L1307M	ENSP00000323194:L1307M	L	-	1	2	PLXNA4	131510175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.289000	0.43523	2.643000	0.89663	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1	67	487	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	66	476	0	100	2								-3.075756	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
PLXNA4	91584	broad.mit.edu	37	7	131908351	131908351	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131908351G>A	ENST00000359827.3	-	9	2994	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W			Q9HCM2	PLXA4_HUMAN	plexin A4			45					CAGACATGCCGGTATTTACAC	0.592000																								0							SO:0001583	missense			ENST00000359827.3	1	1	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120518	0.77323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18502	2.21;2.21	5.8	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.55885	-0.8070	10	0.72032	D	0.01	.	14.8525	0.70309	0.0:0.0:0.7376:0.2624	.	678	Q9HCM2	PLXA4_HUMAN	W	678	ENSP00000323194:R678W;ENSP00000352882:R678W	ENSP00000323194:R678W	R	-	1	2	PLXNA4	131558891	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.686000	0.54685	0.765000	0.33221	-0.169000	0.13324	CGG		TCGA-IB-7651-01A-11D-2154-08	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1	15	88	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999080e-01	15	87	0	26	2								-3.264496	1	1	121094	2	24	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.997803	0.990000	1	9.900000e-01	1
PLXNA4	91584	broad.mit.edu	37	7	132174152	132174152	+	Missense_Mutation	SNP	C	C	T	rs142997259	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132174152C>T	ENST00000359827.3	-	3	2232	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I			Q9HCM2	PLXA4_HUMAN	plexin A4			45					TCCGTGAAGACGGGAATTCCA	0.502000																								0							SO:0001583	missense			ENST00000359827.3	1	0	hg19	CCDS43646.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	9.939	1.217033	0.22373	4.54E-4	0.002209	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.22	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.236540	0.26574	U	0.023617	T	0.06508	0.0167	L	0.45698	1.435	0.40578	D	0.98136	B;B;B	0.15473	0.006;0.013;0.003	B;B;B	0.15870	0.003;0.014;0.002	T	0.12967	-1.0527	10	0.27785	T	0.31	.	7.7108	0.28677	0.0:0.8352:0.0:0.1648	.	424;424;424	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	I	424	ENSP00000323194:V424I;ENSP00000352882:V424I;ENSP00000392772:V424I;ENSP00000367800:V424I	ENSP00000323194:V424I	V	-	1	0	PLXNA4	131824692	0.997000	0.39634	0.949000	0.38748	0.046000	0.14306	2.770000	0.47662	2.712000	0.92718	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1	43	173	0	50	0	4.147292e-02	0	2	0	50	2		0	0	0	0	0	2	1	1	43	171	0	49	2								-2.587018	1	1	121412	409	56	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA4	91584	broad.mit.edu	37	7	132193050	132193050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193050G>A	ENST00000359827.3	-	2	1365	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*			Q9HCM2	PLXA4_HUMAN	plexin A4			45					CAGATGCCTTGGTACAGGCTC	0.542000																								0							SO:0001587	stop_gained			ENST00000359827.3	0	1	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876018	0.97904	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1535	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000323194:Q135X	Q	-	1	0	PLXNA4	131843590	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	CAA		TCGA-IB-7651-01A-11D-2154-08	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1	38	225	0	70	0	2.213080e-02	0	2	0	70	2		0	0	0	0	0	2	1	1	36	220	0	70	2								-18.730950	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
PLXNA4	91584	broad.mit.edu	37	7	132193105	132193105	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193105C>A	ENST00000359827.3	-	2	1310	c.348G>T	c.(346-348)aaG>aaT	p.K116N	PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N			Q9HCM2	PLXA4_HUMAN	plexin A4			45					TGAGGAGCATCTTGTTGACAT	0.572000																								0							SO:0001583	missense			ENST00000359827.3	1	1	hg19	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963128	0.53507	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.39	3.23	0.37069	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000003	T	0.30823	0.0777	M	0.91249	3.19	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.05517	-1.0880	10	0.87932	D	0	.	6.3108	0.21164	0.0:0.6125:0.0:0.3874	.	116;116;116	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	N	116	ENSP00000323194:K116N;ENSP00000352882:K116N;ENSP00000392772:K116N;ENSP00000367800:K116N	ENSP00000323194:K116N	K	-	3	2	PLXNA4	131843645	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.547000	0.23299	1.271000	0.44313	0.462000	0.41574	AAG		TCGA-IB-7651-01A-11D-2154-08	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	1	0	1	50	220	0	60	0	2.382447e-01	0	5	0	60	2		0	0	0	0	0	2	1	1	47	211	0	59	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHCHD3	54927	broad.mit.edu	37	7	132481280	132481280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132481280G>A	ENST00000262570.5	-	7	727	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3			7					GTGTTCTCACGGTAACACTGA	0.517000																								0							SO:0001583	missense			ENST00000262570.5	1	1	hg19	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852934	0.32699	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.52057	0.69;0.68	5.81	5.81	0.92471	.	0.141061	0.64402	D	0.000004	T	0.60090	0.2242	L	0.56199	1.76	0.80722	D	1	D;B	0.89917	1.0;0.011	P;B	0.54706	0.759;0.004	T	0.58945	-0.7546	10	0.52906	T	0.07	-7.3234	19.6745	0.95926	0.0:0.0:1.0:0.0	.	200;195	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	C	195;200	ENSP00000262570:R195C;ENSP00000389297:R200C	ENSP00000262570:R195C	R	-	1	0	CHCHD3	132131820	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	6.800000	0.75165	2.747000	0.94245	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	1	0	1	51	236	0	60	1	1	67	218	0	60	2		0	0	0	0	0	2	1	1	50	233	0	60	2								-2.504627	1	1	121410	6	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXOC4	60412	broad.mit.edu	37	7	132959895	132959895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132959895G>A	ENST00000253861.4	+	2	274	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4			50		Esophageal squamous(399;0.129)			ATCACAGAGCGCATCACTAAC	0.473000																								0							SO:0001583	missense			ENST00000253861.4	1	1	hg19	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148632	0.94603	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.49	5.49	0.81192	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	L	0.28115	0.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.945;0.973	T	0.59322	-0.7476	9	0.22109	T	0.4	.	19.3733	0.94498	0.0:0.0:1.0:0.0	.	82;82	Q96A65;Q8TAR2	EXOC4_HUMAN;.	H	82	.	ENSP00000253861:R82H	R	+	2	0	EXOC4	132610435	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.360000	0.97119	2.579000	0.87056	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	0	0	1	39	222	1	55	1	9.948382e-01	33	110	1	55	10		0	0	0	0	0	2	1	9.995274e-01	38	214	1	54	16								-20.000000	1	1	121412	1	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
LRGUK	136332	broad.mit.edu	37	7	133933760	133933760	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133933760A>C	ENST00000285928.2	+	18	2199	c.2130A>C	c.(2128-2130)gaA>gaC	p.E710D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing			49					CTTTAGAAGAACTCTGGAAAA	0.368000																								0							SO:0001583	missense			ENST00000285928.2	1	1	hg19	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	8.507	0.865667	0.17250	.	.	ENSG00000155530	ENST00000285928	T	0.38240	1.15	3.27	-4.44	0.03557	.	0.311846	0.27754	N	0.018000	T	0.17492	0.0420	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05903	-1.0857	10	0.48119	T	0.1	-11.3641	1.0572	0.01592	0.304:0.1769:0.346:0.1732	.	710	Q96M69	LRGUK_HUMAN	D	710	ENSP00000285928:E710D	ENSP00000285928:E710D	E	+	3	2	LRGUK	133584300	0.043000	0.20138	0.001000	0.08648	0.023000	0.10783	0.036000	0.13819	-0.943000	0.03691	-0.263000	0.10527	GAA		TCGA-IB-7651-01A-11D-2154-08	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	1	0	0	67	232	0	64	0	2.226552e-01	0	4	0	64	2		0	0	0	0	0	2	1	1	64	230	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35B4	84912	broad.mit.edu	37	7	133991519	133991519	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133991519C>T	ENST00000378509.4	-	3	498	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4			5					ACCATTATGGCATAGTACCTG	0.388000																								0							SO:0001583	missense			ENST00000378509.4	1	1	hg19	CCDS34756.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040817	0.35989	.	.	ENSG00000205060	ENST00000378509	T	0.70516	-0.49	5.5	4.61	0.57282	.	0.408445	0.27035	N	0.021249	T	0.52869	0.1761	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.32534	-0.9903	10	0.22706	T	0.39	-10.5705	5.4046	0.16314	0.1271:0.5738:0.223:0.0761	.	67;67	Q969S0-2;Q969S0	.;S35B4_HUMAN	T	67	ENSP00000367770:A67T	ENSP00000367770:A67T	A	-	1	0	SLC35B4	133642059	0.104000	0.21937	0.076000	0.20297	0.850000	0.48378	0.726000	0.25984	1.445000	0.47624	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	1	0	1	28	133	0	35	1	9.402781e-01	3	22	0	35	2		0	0	0	0	0	2	1	1	28	131	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
AKR1B1	231	broad.mit.edu	37	7	134133231	134133231	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133231T>C	ENST00000285930.4	-	6	646	c.567A>G	c.(565-567)ccA>ccG	p.P189P	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)			14				Sulindac(DB00605)	GAGTGAGATATGGGTGGCACT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000285930.4	1	1	hg19	CCDS5831.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	1	0	0	15	176	0	38	1	1	26	923	0	38	2		0	0	0	0	0	2	1	9.998739e-01	15	172	0	38	2								-19.861040	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.950000	0.550000	1.000000	1.000000	0.891607	0.950000	1	7.300000e-01	1
AKR1B1	231	broad.mit.edu	37	7	134133752	134133752	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133752G>T	ENST00000285930.4	-	5	628	c.549C>A	c.(547-549)aaC>aaA	p.N183K	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)			14				Sulindac(DB00605)	TGTTTACCTGGTTAACTGCAG	0.488000																								0							SO:0001583	missense			ENST00000285930.4	1	1	hg19	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869956	0.72065	.	.	ENSG00000085662	ENST00000285930	T	0.26810	1.71	5.23	5.23	0.72850	NADP-dependent oxidoreductase domain (3);	0.133468	0.64402	D	0.000003	T	0.66761	0.2822	H	0.98646	4.29	0.53005	D	0.999965	D	0.89917	1.0	D	0.76575	0.988	T	0.79364	-0.1834	10	0.87932	D	0	.	13.5061	0.61485	0.0775:0.0:0.9225:0.0	.	183	P15121	ALDR_HUMAN	K	183	ENSP00000285930:N183K	ENSP00000285930:N183K	N	-	3	2	AKR1B1	133784292	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	0.956000	0.29202	2.608000	0.88229	0.561000	0.74099	AAC		TCGA-IB-7651-01A-11D-2154-08	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	0	0	1	138	597	0	179	1	1	124	978	0	179	2		0	0	0	0	0	2	1	1	136	592	0	178	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKR1B15	441282	broad.mit.edu	37	7	134252965	134252965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134252965G>A	ENST00000457545.2	+	4	466	c.206G>A	c.(205-207)cGc>cAc	p.R69H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15			18					GCAGAATATCGCCACATTGAC	0.443000																								0							SO:0001583	missense			ENST00000457545.2	1	1	hg19	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	11.75	1.732917	0.30684	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.28255	1.62;1.62	2.96	1.07	0.20283	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.34279	0.0892	M	0.87758	2.905	0.44754	D	0.99775	B;B;B	0.30281	0.078;0.275;0.058	B;B;B	0.26517	0.013;0.07;0.021	T	0.16129	-1.0413	9	0.62326	D	0.03	.	6.9252	0.24412	0.2502:0.0:0.7498:0.0	.	41;69;41	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	H	69;41	ENSP00000389289:R69H;ENSP00000397009:R41H	ENSP00000397009:R41H	R	+	2	0	AKR1B15	133903505	0.975000	0.34042	0.031000	0.17742	0.060000	0.15804	4.974000	0.63771	0.114000	0.18032	-0.358000	0.07595	CGC		TCGA-IB-7651-01A-11D-2154-08	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2	1	0	1	85	353	0	98	0	3.855906e-02	0	2	0	98	2		0	0	0	0	0	2	1	1	83	346	0	96	2								-20.000000	1	1	121412	1	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BPGM	669	broad.mit.edu	37	7	134346540	134346540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134346540C>T	ENST00000393132.2	+	3	770	c.281C>T	c.(280-282)gCc>gTc	p.A94V	BPGM_ENST00000418040.1_Missense_Mutation_p.A94V|BPGM_ENST00000344924.3_Missense_Mutation_p.A94V	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase			5					CACTATGGGGCCTTGATCGGT	0.532000																								0							SO:0001583	missense			ENST00000393132.2	1	1	hg19	CCDS5833.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118106	0.94385	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	T;T;T	0.72282	-0.64;-0.64;-0.64	6.02	5.13	0.70059	Histidine phosphatase superfamily, clade-1 (2);	0.090205	0.85682	D	0.000000	T	0.79975	0.4539	M	0.63169	1.94	0.80722	D	1	D	0.67145	0.996	P	0.57324	0.818	T	0.82727	-0.0314	10	0.87932	D	0	-9.1969	17.3607	0.87349	0.0:0.875:0.125:0.0	.	94	P07738	PMGE_HUMAN	V	94	ENSP00000342032:A94V;ENSP00000399838:A94V;ENSP00000376840:A94V	ENSP00000342032:A94V	A	+	2	0	BPGM	133997080	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.092000	0.71414	1.543000	0.49345	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339763.1	1	0	1	37	190	0	56	1	9.999958e-01	14	88	0	56	2		0	0	0	0	0	2	1	1	36	185	0	55	2								-3.358574	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
CALD1	800	broad.mit.edu	37	7	134618572	134618572	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134618572G>T	ENST00000361675.2	+	5	1281	c.1052G>T	c.(1051-1053)aGg>aTg	p.R351M	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1			43					gaagagaaaagggcagcagag	0.532000																								0							SO:0001583	missense			ENST00000361675.2	0	1	hg19	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259906	0.10239	.	.	ENSG00000122786	ENST00000361675	T	0.42513	0.97	3.1	1.14	0.20703	.	0.667275	0.11937	N	0.515172	T	0.44871	0.1314	L	0.40543	1.245	0.31670	N	0.644534	D	0.60575	0.988	P	0.58660	0.843	T	0.49103	-0.8974	9	.	.	.	.	6.6147	0.22771	0.3535:0.0:0.6465:0.0	.	351	Q05682	CALD1_HUMAN	M	351	ENSP00000354826:R351M	.	R	+	2	0	CALD1	134269112	0.000000	0.05858	0.004000	0.12327	0.312000	0.27988	-0.082000	0.11304	0.259000	0.21709	0.462000	0.41574	AGG		TCGA-IB-7651-01A-11D-2154-08	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	1	0	1	10	51	0	15	0	8.122877e-01	0	18	0	15	2	1	1	317	1613	2	2200	7		0	0	0	0	0	2								-8.539370	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.960000	1.000000	1.000000	0.996160	0.990000	1	9.900000e-01	1
CALD1	800	broad.mit.edu	37	7	134635161	134635161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134635161C>T	ENST00000361675.2	+	9	2060	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000361901.2_Nonsense_Mutation_p.R356*|CALD1_ENST00000361388.2_Nonsense_Mutation_p.R382*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*			Q05682	CALD1_HUMAN	caldesmon 1			43					GATTGAAAGGCGAAGAGCAGA	0.453000																								0							SO:0001587	stop_gained			ENST00000361675.2	0	1	hg19	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	41	8.976056	0.99023	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	.	.	.	5.52	4.55	0.56014	.	0.000000	0.38548	N	0.001657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6252	13.0117	0.58735	0.548:0.452:0.0:0.0	.	.	.	.	X	356;356;382;382;611;356;376;350;376;361	.	ENSP00000355000:R382X	R	+	1	2	CALD1	134285701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.780000	0.62382	1.103000	0.41568	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	1	0	0	12	244	0	61	1	1	2	2042	0	61	2	1	9.999935e-01	37	1065	1	1077	8	1	9.991179e-01	12	241	0	60	2								-3.217720	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.570000	0.310000	1.000000	0.540000	0.607681	0.570000	0	4.200000e-01	7.800000e-01
TMEM140	55281	broad.mit.edu	37	7	134849279	134849279	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134849279T>C	ENST00000275767.3	+	2	309	c.86T>C	c.(85-87)tTt>tCt	p.F29S	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140			5					TGCCTGATGTTTTACGCTCTT	0.562000																								0							SO:0001583	missense			ENST00000275767.3	1	1	hg19	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	T	9.346	1.064210	0.20067	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.17854	2.25	5.68	4.5	0.54988	.	0.413393	0.23396	N	0.048631	T	0.17662	0.0424	L	0.53249	1.67	0.25660	N	0.98601	B	0.28783	0.222	B	0.30251	0.113	T	0.13308	-1.0514	10	0.40728	T	0.16	-26.4586	9.709	0.40233	0.0:0.0809:0.0:0.9191	.	29	Q9NV12	TM140_HUMAN	S	29	ENSP00000275767:F29S	ENSP00000275767:F29S	F	+	2	0	TMEM140	134499819	0.225000	0.23685	0.963000	0.40424	0.010000	0.07245	1.083000	0.30815	0.940000	0.37473	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	1	0	1	139	574	0	108	1	1	21	155	0	108	2		0	0	0	0	0	2	1	1	138	565	0	107	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STRA8	346673	broad.mit.edu	37	7	134927583	134927583	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134927583C>A	ENST00000275764.3	+	3	309	c.309C>A	c.(307-309)acC>acA	p.T103T		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8	p.T103T(1)		16					TGGAGCAAACCCTGGATAATT	0.458000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000275764.3	1	1	hg19	CCDS5839.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	1	0	1	43	402	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	43	392	0	88	2								-3.017764	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.840000	1.000000	1.000000	0.986803	0.990000	1	9.800000e-01	1
STRA8	346673	broad.mit.edu	37	7	134928112	134928112	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134928112C>A	ENST00000275764.3	+	4	369	c.369C>A	c.(367-369)agC>agA	p.S123R		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8			16					ATGCAAGCAGCTTAGAGGAGG	0.502000																								0							SO:0001583	missense			ENST00000275764.3	1	1	hg19	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854274	0.51270	.	.	ENSG00000146857	ENST00000275764	.	.	.	5.29	3.14	0.36123	.	0.534314	0.19603	N	0.110330	T	0.54532	0.1864	M	0.62723	1.935	0.18873	N	0.999987	D	0.61080	0.989	P	0.58873	0.847	T	0.46414	-0.9193	9	0.72032	D	0.01	-17.1714	11.4153	0.49949	0.0:0.7779:0.0:0.2221	.	123	Q7Z7C7	STRA8_HUMAN	R	123	.	ENSP00000275764:S123R	S	+	3	2	STRA8	134578652	0.954000	0.32549	0.967000	0.41034	0.850000	0.48378	2.540000	0.45727	1.240000	0.43803	-0.253000	0.11424	AGC		TCGA-IB-7651-01A-11D-2154-08	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	0	0	0	10	241	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	9.968605e-01	10	238	0	73	2								-4.173617	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.490000	0.250000	1.000000	0.460000	0.532321	0.490000	0	3.500000e-01	6.900000e-01
CNOT4	4850	broad.mit.edu	37	7	135079029	135079029	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135079029A>G	ENST00000315544.5	-	10	1547	c.1268T>C	c.(1267-1269)cTg>cCg	p.L423P	CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P|CNOT4_ENST00000428680.2_Missense_Mutation_p.L420P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4			22					TTGAACGGACAGTTCCTTCTC	0.488000													Ovarian(51;766 1130 5502 35047 50875)											0							SO:0001583	missense			ENST00000315544.5	1	1	hg19	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.105960	0.77096	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.998;0.995;0.997;0.997;0.997	D;D;D;D;D;D	0.78314	0.942;0.974;0.979;0.991;0.991;0.991	T	0.58487	-0.7628	10	0.31617	T	0.26	-6.5092	15.5295	0.75942	1.0:0.0:0.0:0.0	.	420;423;423;420;423;420	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	P	423;420;423;423;420;420;423	ENSP00000445508:L423P;ENSP00000388491:L420P;ENSP00000406777:L423P;ENSP00000354673:L420P;ENSP00000399108:L420P;ENSP00000326731:L423P	ENSP00000262563:L423P	L	-	2	0	CNOT4	134729569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	CTG		TCGA-IB-7651-01A-11D-2154-08	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	82	394	0	94	1	9.998077e-01	13	49	0	94	2		0	0	0	0	0	2	1	1	80	386	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT4	4850	broad.mit.edu	37	7	135080489	135080489	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135080489G>A	ENST00000315544.5	-	9	1305	c.1026C>T	c.(1024-1026)cgC>cgT	p.R342R	CNOT4_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R|CNOT4_ENST00000428680.2_Silent_p.R339R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000414802.1_Silent_p.R342R	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4			22					GGTTGGGATGGCGAAAATTGT	0.527000													Ovarian(51;766 1130 5502 35047 50875)											0							SO:0001819	synonymous_variant			ENST00000315544.5	1	1	hg19	CCDS55166.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	76	307	0	75	1	9.999703e-01	15	49	0	75	2		0	0	0	0	0	2	1	1	73	297	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNOT4	4850	broad.mit.edu	37	7	135095279	135095279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135095279C>T	ENST00000315544.5	-	7	1086	c.807G>A	c.(805-807)ctG>ctA	p.L269L	CNOT4_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L|CNOT4_ENST00000428680.2_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000414802.1_Silent_p.L269L	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4			22					CATACCTCTGCAGTGGTGTCA	0.318000													Ovarian(51;766 1130 5502 35047 50875)											0							SO:0001819	synonymous_variant			ENST00000315544.5	1	1	hg19	CCDS55166.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	55	346	0	73	1	9.988914e-01	14	52	0	73	2		0	0	0	0	0	2	1	1	55	338	0	73	2								-19.999920	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
NUP205	23165	broad.mit.edu	37	7	135261869	135261869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135261869G>A	ENST00000285968.6	+	5	667	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa			93					GAAAAACATCGCAAAGAGGCA	0.373000																								0							SO:0001583	missense			ENST00000285968.6	1	1	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421505	0.83559	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15321	-1.0441	10	0.29301	T	0.29	-15.0997	19.6316	0.95708	0.0:0.0:1.0:0.0	.	214	Q92621	NU205_HUMAN	H	214	ENSP00000285968:R214H	ENSP00000285968:R214H	R	+	2	0	NUP205	134912409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	0	18	340	0	80	1	6.521345e-01	5	37	0	80	2		0	0	0	0	0	2	1	9.999813e-01	18	335	0	80	2								-4.757260	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.610000	0.370000	1.000000	0.590000	0.637373	0.610000	0	4.700000e-01	7.900000e-01
NUP205	23165	broad.mit.edu	37	7	135279294	135279294	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135279294G>T	ENST00000285968.6	+	13	1856		c.e13-1		NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa			93					TCAATTCTTAGAGTGAAAATG	0.408000																								0							SO:0001630	splice_region_variant			ENST00000285968.6	1	1	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.189076	0.57909	.	.	ENSG00000155561	ENST00000285968	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0836	0.93192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP205	134929834	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	9.802000	0.99131	2.479000	0.83701	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	1	73	305	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	73	299	0	84	2								-3.134380	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP205	23165	broad.mit.edu	37	7	135285644	135285644	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135285644G>A	ENST00000285968.6	+	16	2327	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa			93					TGGTTTTGGAGGTGTTTTATA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000285968.6	1	1	hg19	CCDS34759.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	1	51	310	0	61	1	9.822752e-01	2	39	0	61	2		0	0	0	0	0	2	1	1	49	306	0	61	2								-2.967570	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
NUP205	23165	broad.mit.edu	37	7	135292055	135292055	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa			93					GAGAAAGGAACGGAAGGGAGA	0.463000																								0							SO:0001583	missense			ENST00000285968.6	1	1	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966911	0.74131	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.15	5.15	0.70609	.	0.047461	0.85682	D	0.000000	T	0.40423	0.1116	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.55545	0.778	T	0.14337	-1.0476	10	0.46703	T	0.11	-10.5056	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1044	Q92621	NU205_HUMAN	M	1044	ENSP00000285968:T1044M	ENSP00000285968:T1044M	T	+	2	0	NUP205	134942595	0.999000	0.42202	0.784000	0.31847	0.898000	0.52572	3.793000	0.55484	2.550000	0.86006	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	1	0	1	33	326	0	59	1	9.594206e-01	14	40	0	59	2		0	0	0	0	0	2	1	1	32	322	0	58	2								-11.166090	1	1	121412	9	42	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.770000	1.000000	1.000000	0.971211	0.990000	1	9.200000e-01	1
SLC13A4	26266	broad.mit.edu	37	7	135376316	135376316	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135376316C>T	ENST00000354042.4	-	12	1987	c.1298G>A	c.(1297-1299)tGc>tAc	p.C433Y	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4			24					TTTCCCAAAGCAGGGCTTCTT	0.458000																								0							SO:0001583	missense			ENST00000354042.4	1	1	hg19	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073514	0.55646	.	.	ENSG00000164707	ENST00000354042	T	0.69040	-0.37	5.69	4.8	0.61643	.	0.065014	0.64402	D	0.000004	T	0.54303	0.1850	L	0.27053	0.805	0.49051	D	0.999741	P;P	0.46395	0.877;0.714	P;B	0.45232	0.474;0.34	T	0.52193	-0.8608	10	0.07175	T	0.84	-19.8065	14.4043	0.67071	0.0:0.8512:0.1488:0.0	.	302;433	Q59HF0;Q9UKG4	.;S13A4_HUMAN	Y	433	ENSP00000297282:C433Y	ENSP00000297282:C433Y	C	-	2	0	SLC13A4	135026856	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.887000	0.56197	1.382000	0.46385	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	1	0	1	35	169	0	54	0	0	1	0	0	54	2		0	0	0	0	0	2	1	1	35	167	0	54	2								-19.541100	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
CHRM2	1129	broad.mit.edu	37	7	136699928	136699928	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136699928G>A	ENST00000445907.2	+	3	844	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2			68				Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGACTATGTGGTCAGCAATGC	0.478000																								0							SO:0001583	missense			ENST00000445907.2	1	1	hg19	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392604	0.83011	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.058614	0.64402	D	0.000002	T	0.29817	0.0745	L	0.56340	1.77	0.80722	D	1	P	0.41420	0.749	P	0.45712	0.491	T	0.01349	-1.1378	10	0.17369	T	0.5	-4.778	19.7047	0.96068	0.0:0.0:1.0:0.0	.	106	P08172	ACM2_HUMAN	I	106	ENSP00000399745:V106I;ENSP00000415386:V106I;ENSP00000319984:V106I;ENSP00000380733:V106I;ENSP00000384937:V106I;ENSP00000384401:V106I	ENSP00000319984:V106I	V	+	1	0	CHRM2	136350468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.807000	0.99171	2.655000	0.90218	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1	1	0	1	117	557	0	155		0	0	0	0	155	2		0	0	0	0	0	2	1	1	114	546	0	155	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRM2	1129	broad.mit.edu	37	7	136700166	136700166	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700166C>A	ENST00000445907.2	+	3	1082	c.554C>A	c.(553-555)gCt>gAt	p.A185D	CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2			68				Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCCAATGCTGCTGTCACCTTT	0.483000																								0							SO:0001583	missense			ENST00000445907.2	1	1	hg19	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495260	0.64186	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.72118	2.19	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	T	0.59220	-0.7495	10	0.32370	T	0.25	-22.3117	19.4315	0.94772	0.0:1.0:0.0:0.0	.	185	P08172	ACM2_HUMAN	D	185	ENSP00000399745:A185D;ENSP00000415386:A185D;ENSP00000319984:A185D;ENSP00000380733:A185D;ENSP00000384937:A185D;ENSP00000384401:A185D	ENSP00000319984:A185D	A	+	2	0	CHRM2	136350706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.600000	0.87896	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1	1	0	1	81	391	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	78	383	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRM2	1129	broad.mit.edu	37	7	136700546	136700546	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700546C>A	ENST00000445907.2	+	3	1462	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2			68				Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTCCACTTCCCTGGGCCATTC	0.463000																								0							SO:0001583	missense			ENST00000445907.2	1	1	hg19	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	7.757	0.704479	0.15172	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.4	0.492	0.16872	GPCR, rhodopsin-like superfamily (1);	0.571088	0.16953	N	0.192800	T	0.48021	0.1477	N	0.24115	0.695	0.23144	N	0.998226	P	0.38195	0.622	P	0.44359	0.447	T	0.37619	-0.9698	10	0.41790	T	0.15	-4.2629	5.6681	0.17707	0.0:0.5294:0.1257:0.3449	.	312	P08172	ACM2_HUMAN	M	312	ENSP00000399745:L312M;ENSP00000415386:L312M;ENSP00000319984:L312M;ENSP00000380733:L312M;ENSP00000384937:L312M;ENSP00000384401:L312M	ENSP00000319984:L312M	L	+	1	2	CHRM2	136351086	0.410000	0.25376	0.958000	0.39756	0.990000	0.78478	0.015000	0.13355	-0.191000	0.10448	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1	1	0	1	72	331	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	71	324	0	87	2								-2.649368	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRM2	1129	broad.mit.edu	37	7	136700899	136700899	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700899T>C	ENST00000445907.2	+	3	1815	c.1287T>C	c.(1285-1287)tgT>tgC	p.C429C	CHRM2_ENST00000397608.3_Silent_p.C429C|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.C429C|CHRM2_ENST00000401861.1_Silent_p.C429C|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|CHRM2_ENST00000453373.1_Silent_p.C429C|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2			68				Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACTGGCTTTGTTACATCAACA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000445907.2	1	1	hg19	CCDS5843.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1	1	0	1	108	502	0	154		0	0	0	0	154	2		0	0	0	0	0	2	1	1	108	492	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGKI	9162	broad.mit.edu	37	7	137154342	137154342	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137154342C>T	ENST00000288490.5	-	25	2451	c.2451G>A	c.(2449-2451)agG>agA	p.R817R	DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000446122.1_Silent_p.R799R|DGKI_ENST00000453654.2_Silent_p.R517R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota			84					CTGAGAGAGCCCTGGGGAAGG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000288490.5	1	1	hg19	CCDS5845.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	1	0	1	39	270	0	51	0	1.281425e-01	0	5	0	51	2		0	0	0	0	0	2	1	1	36	266	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999668	0.990000	1	9.900000e-01	1
DGKI	9162	broad.mit.edu	37	7	137269963	137269963	+	Missense_Mutation	SNP	C	C	T	rs111722170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137269963C>T	ENST00000288490.5	-	14	1555	c.1555G>A	c.(1555-1557)Gta>Ata	p.V519I	DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000446122.1_Missense_Mutation_p.V519I|DGKI_ENST00000453654.2_Missense_Mutation_p.V219I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota			84					ACCTTACATACGCCATCTTCA	0.483000																								0							SO:0001583	missense			ENST00000288490.5	1	1	hg19	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927886	0.52759	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.41400	1.0;1.0;1.0	6.07	6.07	0.98685	.	0.403557	0.24417	N	0.038709	T	0.26085	0.0636	N	0.14661	0.345	0.27813	N	0.942071	B;B	0.26318	0.004;0.146	B;B	0.12156	0.004;0.007	T	0.12218	-1.0556	10	0.35671	T	0.21	.	12.7183	0.57127	0.0:0.9243:0.0:0.0757	.	219;519	E9PFX6;O75912	.;DGKI_HUMAN	I	219;467;519;519;519	ENSP00000392161:V219I;ENSP00000288490:V519I;ENSP00000399131:V519I	ENSP00000288490:V519I	V	-	1	0	DGKI	136920503	0.983000	0.35010	0.997000	0.53966	0.995000	0.86356	1.830000	0.39131	2.885000	0.99019	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	0	0	1	87	425	0	105	0	2.958710e-02	0	2	0	105	2		0	0	0	0	0	2	1	1	82	418	0	105	2								-20.000000	1	1	121412	4	38	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGKI	9162	broad.mit.edu	37	7	137308289	137308289	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137308289T>G	ENST00000288490.5	-	7	816	c.816A>C	c.(814-816)caA>caC	p.Q272H	DGKI_ENST00000424189.2_Missense_Mutation_p.Q272H|DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota			84					AGGAGAACTTTTGCTGGAAGC	0.443000																								0							SO:0001583	missense			ENST00000288490.5	1	1	hg19	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848968	0.71603	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.36520	1.25;1.44	5.76	-1.13	0.09775	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.49640	1.575	0.54753	D	0.999988	P	0.45078	0.85	P	0.55391	0.775	T	0.23440	-1.0188	10	0.33141	T	0.24	.	12.5935	0.56454	0.0:0.6635:0.0:0.3365	.	272	O75912	DGKI_HUMAN	H	220;272;272;272	ENSP00000288490:Q272H;ENSP00000399131:Q272H	ENSP00000288490:Q272H	Q	-	3	2	DGKI	136958829	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.934000	0.28910	-0.128000	0.11641	0.533000	0.62120	CAA		TCGA-IB-7651-01A-11D-2154-08	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	1	0	1	109	492	0	147	0	3.352443e-02	0	2	0	147	2		0	0	0	0	0	2	1	1	102	482	0	146	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CREB3L2	64764	broad.mit.edu	37	7	137565285	137565285	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565285T>G	ENST00000330387.6	-	12	1851	c.1500A>C	c.(1498-1500)aaA>aaC	p.K500N		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2		FUS/CREB3L2(158)	19					TCCCCTCCAGTTTGGCGCTGA	0.453000			T	FUS	fibromyxoid sarcoma										Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0							SO:0001583	missense			ENST00000330387.6	1	0	hg19	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.346474	0.41599	.	.	ENSG00000182158	ENST00000330387	T	0.59772	0.24	5.3	1.52	0.23074	.	0.481828	0.23433	N	0.048238	T	0.40196	0.1107	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11591	-1.0581	10	0.32370	T	0.25	-7.1005	5.0655	0.14580	0.0:0.1448:0.3077:0.5475	.	500	Q70SY1	CR3L2_HUMAN	N	500	ENSP00000329140:K500N	ENSP00000329140:K500N	K	-	3	2	CREB3L2	137215825	0.932000	0.31603	0.996000	0.52242	0.997000	0.91878	-0.355000	0.07671	0.292000	0.22492	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	1	0	0	8	101	0	35	1	9.948087e-01	9	117	0	35	2		0	0	0	0	0	2	1	9.877141e-01	7	96	0	35	2								-12.847770	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.900000	0.430000	1.000000	1.000000	0.845840	0.900000	1	6.300000e-01	1
CREB3L2	64764	broad.mit.edu	37	7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565290C>T	ENST00000330387.6	-	12	1846	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2		FUS/CREB3L2(158)	19					TCCAGTTTGGCGCTGACCCTG	0.458000			T	FUS	fibromyxoid sarcoma										Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0							SO:0001583	missense			ENST00000330387.6	1	1	hg19	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264711	0.40095	.	.	ENSG00000182158	ENST00000330387	T	0.57752	0.38	5.3	-7.39	0.01402	.	1.247950	0.05251	N	0.514033	T	0.26412	0.0645	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07195	-1.0785	10	0.12766	T	0.61	-0.4631	9.9392	0.41570	0.1659:0.139:0.0:0.6951	.	499	Q70SY1	CR3L2_HUMAN	T	499	ENSP00000329140:A499T	ENSP00000329140:A499T	A	-	1	0	CREB3L2	137215830	0.672000	0.27530	0.318000	0.25279	0.994000	0.84299	-0.646000	0.05403	-2.087000	0.00862	-0.136000	0.14681	GCC		TCGA-IB-7651-01A-11D-2154-08	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	1	0	1	19	91	0	34	1	9.999999e-01	10	147	0	34	2		0	0	0	0	0	2	1	9.999907e-01	19	84	0	34	2								-3.209811	1	0	121412	5	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999819	0.990000	1	9.900000e-01	1
CREB3L2	64764	broad.mit.edu	37	7	137569813	137569813	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137569813G>A	ENST00000330387.6	-	10	1549	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2		FUS/CREB3L2(158)	19					GAAGGATAGGGCCCGTAGCCT	0.587000			T	FUS	fibromyxoid sarcoma										Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0							SO:0001583	missense			ENST00000330387.6	1	1	hg19	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972067	0.74246	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.65916	0.16;-0.18	5.69	5.69	0.88448	.	0.348076	0.30085	N	0.010452	T	0.64746	0.2626	L	0.55481	1.735	0.80722	D	1	B;B	0.30406	0.215;0.278	B;B	0.36335	0.104;0.222	T	0.61559	-0.7038	10	0.41790	T	0.15	-0.013	19.8786	0.96886	0.0:0.0:1.0:0.0	.	400;400	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	S	400	ENSP00000329140:P400S;ENSP00000403550:P400S	ENSP00000329140:P400S	P	-	1	0	CREB3L2	137220353	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.877000	0.75562	2.708000	0.92522	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	1	0	1	68	291	0	76	1	1	6	124	0	76	2		0	0	0	0	0	2	1	1	65	286	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CREB3L2	64764	broad.mit.edu	37	7	137612945	137612945	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137612945C>T	ENST00000330387.6	-	2	621	c.270G>A	c.(268-270)cgG>cgA	p.R90R	CREB3L2_ENST00000452463.1_Silent_p.R90R|CREB3L2_ENST00000458726.1_Silent_p.R27R|CREB3L2_ENST00000456390.1_Silent_p.R90R	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2		FUS/CREB3L2(158)	19					GCGACTGGGCCCGAGGCTCCT	0.587000			T	FUS	fibromyxoid sarcoma										Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0							SO:0001819	synonymous_variant			ENST00000330387.6	0	1	hg19	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938089	0.34189	.	.	ENSG00000182158	ENST00000420629	T	0.57595	0.39	5.42	1.3	0.21679	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	6	0.87932	D	0	-8.1521	6.3579	0.21412	0.0:0.3595:0.3711:0.2694	.	.	.	.	E	24	ENSP00000402889:G24E	ENSP00000402889:G24E	G	-	2	0	CREB3L2	137263485	0.645000	0.27286	0.996000	0.52242	0.990000	0.78478	-0.387000	0.07361	0.251000	0.21505	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	1	0	0	17	68	0	19	1	1	4	151	0	19	2		0	0	0	0	0	2	1	9.999826e-01	17	68	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999901	0.990000	1	9.900000e-01	1
TRIM24	8805	broad.mit.edu	37	7	138239457	138239457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239457G>A	ENST00000343526.4	+	9	1491	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24			40					TTTAGTAATCGAGGATAAAGA	0.363000													Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											0							SO:0001583	missense			ENST00000343526.4	1	1	hg19	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733746	0.89482	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.79845	-1.31;-1.23	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.74881	2.28	0.52501	D	0.999958	P;D	0.64830	0.945;0.994	P;D	0.67725	0.637;0.953	D	0.88917	0.3363	10	0.48119	T	0.1	-21.5728	18.8417	0.92186	0.0:0.0:1.0:0.0	.	426;426	O15164;O15164-2	TIF1A_HUMAN;.	K	426;337;426;384	ENSP00000340507:E426K;ENSP00000390829:E426K	ENSP00000340507:E426K	E	+	1	0	TRIM24	137889997	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.716000	0.74702	2.544000	0.85801	0.557000	0.71058	GAG		TCGA-IB-7651-01A-11D-2154-08	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	1	0	1	78	382	0	84	1	9.973809e-01	17	29	0	84	2		0	0	0	0	0	2	1	1	76	376	0	84	2								-2.768488	1	1	121410	4	33	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM24	8805	broad.mit.edu	37	7	138239586	138239586	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239586C>T	ENST00000343526.4	+	9	1620	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24			40					AGCTCAATTACGGCTCCAGCA	0.502000													Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											0							SO:0001583	missense			ENST00000343526.4	1	1	hg19	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544278	0.86022	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.78481	-1.18;-1.17	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	M	0.68593	2.085	0.58432	D	0.999996	P;D	0.89917	0.938;1.0	B;D	0.91635	0.384;0.999	D	0.87165	0.2217	10	0.52906	T	0.07	-13.5221	19.328	0.94270	0.0:1.0:0.0:0.0	.	469;469	O15164;O15164-2	TIF1A_HUMAN;.	W	469;380;469;427	ENSP00000340507:R469W;ENSP00000390829:R469W	ENSP00000340507:R469W	R	+	1	2	TRIM24	137890126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.311000	0.65786	2.661000	0.90470	0.557000	0.71058	CGG		TCGA-IB-7651-01A-11D-2154-08	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	0	0	1	17	581	0	136	1	6.308472e-01	9	64	0	136	2		0	0	0	0	0	2	1	9.999578e-01	15	569	0	135	2								-2.928334	1	1	121412	2	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.340000	0.200000	1.000000	0.330000	0.388358	0.340000	0	2.600000e-01	4.600000e-01
ATP6V0A4	50617	broad.mit.edu	37	7	138394541	138394541	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138394541C>A	ENST00000310018.2	-	21	2540		c.e21-1		ATP6V0A4_ENST00000353492.4_Splice_Site|ATP6V0A4_ENST00000393054.1_Splice_Site	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4			36					TCAGACAGTTCTGCAAGGTAC	0.368000																								0							SO:0001630	splice_region_variant			ENST00000310018.2	1	1	hg19	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841343	0.91197	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8636	0.96797	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP6V0A4	138045081	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	1	0	1	53	459	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	52	450	0	107	2								-2.966611	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.930000	1.000000	1.000000	0.996389	0.990000	1	9.900000e-01	1
KIAA1549	57670	broad.mit.edu	37	7	138529190	138529190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529190G>A	ENST00000422774.1	-	18	5372	c.5324C>T	c.(5323-5325)tCt>tTt	p.S1775F	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S1775F			Q9HCM3	K1549_HUMAN	KIAA1549		KIAA1549/BRAF(703)	7					CAGCTCTGTAGACTGCAGCAA	0.617000			O	BRAF	pilocytic astrocytoma								NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0							SO:0001583	missense			ENST00000422774.1	1	1	hg19	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837312	0.71373	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.30448	1.61;1.62;1.53	4.87	4.87	0.63330	.	0.380247	0.28577	N	0.014859	T	0.51143	0.1657	L	0.56769	1.78	0.46437	D	0.999045	D;P;D;P	0.67145	0.994;0.514;0.996;0.514	P;B;D;B	0.65874	0.87;0.351;0.939;0.351	T	0.53272	-0.8462	10	0.87932	D	0	.	16.7673	0.85527	0.0:0.0:1.0:0.0	.	1775;559;1775;559	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	F	1775;1725;1775	ENSP00000406661:S1775F;ENSP00000242365:S1725F;ENSP00000416040:S1775F	ENSP00000242365:S1725F	S	-	2	0	KIAA1549	138179730	1.000000	0.71417	0.859000	0.33776	0.484000	0.33280	7.599000	0.82757	2.558000	0.86282	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1	16	84	0	24	1	3.301190e-01	2	5	0	24	2		0	0	0	0	0	2	1	9.999515e-01	16	82	0	24	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999181	0.990000	1	9.900000e-01	1
KIAA1549	57670	broad.mit.edu	37	7	138529203	138529203	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529203C>T	ENST00000422774.1	-	18	5359	c.5311G>A	c.(5311-5313)Ggt>Agt	p.G1771S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1771S			Q9HCM3	K1549_HUMAN	KIAA1549		KIAA1549/BRAF(703)	7					TGCAGCAAACCGGGGCCAAAA	0.592000			O	BRAF	pilocytic astrocytoma								NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0							SO:0001583	missense			ENST00000422774.1	1	1	hg19	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533405	0.45073	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21734	2.0;2.01;1.99	5.56	3.77	0.43336	.	0.502498	0.23180	N	0.051023	T	0.11922	0.0290	L	0.41710	1.295	0.36620	D	0.875696	P;B;P;B	0.51449	0.909;0.057;0.945;0.057	B;B;B;B	0.34489	0.09;0.007;0.184;0.007	T	0.14952	-1.0454	10	0.07175	T	0.84	.	10.9538	0.47345	0.0:0.8478:0.0:0.1522	.	1771;555;1771;555	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1771;1721;1771	ENSP00000406661:G1771S;ENSP00000242365:G1721S;ENSP00000416040:G1771S	ENSP00000242365:G1721S	G	-	1	0	KIAA1549	138179743	0.200000	0.23398	0.220000	0.23810	0.830000	0.47004	1.338000	0.33873	0.736000	0.32559	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1	15	79	0	23	1	2.651492e-01	2	4	0	23	2		0	0	0	0	0	2	1	9.999040e-01	15	77	0	23	2								-20.000000	1	0	120478	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998910	0.990000	1	9.900000e-01	1
KIAA1549	57670	broad.mit.edu	37	7	138591671	138591671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138591671C>T	ENST00000422774.1	-	6	3502	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1152T			Q9HCM3	K1549_HUMAN	KIAA1549		KIAA1549/BRAF(703)	7					TCACGCTCTGCGATCTGCAGC	0.473000			O	BRAF	pilocytic astrocytoma								NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0							SO:0001583	missense			ENST00000422774.1	1	1	hg19	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309989	0.81247	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.69561	-0.4;-0.38;-0.41	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85152	0.0987	10	0.87932	D	0	.	17.8527	0.88752	0.0:1.0:0.0:0.0	.	1152;1152	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	1152;1102;1152	ENSP00000406661:A1152T;ENSP00000242365:A1102T;ENSP00000416040:A1152T	ENSP00000242365:A1102T	A	-	1	0	KIAA1549	138242211	1.000000	0.71417	0.785000	0.31869	0.310000	0.27922	7.291000	0.78721	2.683000	0.91414	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1	45	222	0	67	1	5.271187e-01	3	7	0	67	2		0	0	0	0	0	2	1	1	45	217	0	67	2								-2.969689	1	1	120918	1	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1549	57670	broad.mit.edu	37	7	138602176	138602176	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602176C>T	ENST00000422774.1	-	2	2244	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A	KIAA1549_ENST00000242365.4_Silent_p.A682A|KIAA1549_ENST00000440172.1_Silent_p.A732A			Q9HCM3	K1549_HUMAN	KIAA1549		KIAA1549/BRAF(703)	7					AAACCGTAGACGCTTCAACAA	0.463000			O	BRAF	pilocytic astrocytoma								NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0							SO:0001819	synonymous_variant			ENST00000422774.1	1	1	hg19	CCDS56513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1	51	217	0	70	0	5.950482e-01	0	10	0	70	2		0	0	0	0	0	2	1	1	52	213	0	70	2								-20.000000	1	1	120870	9	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1549	57670	broad.mit.edu	37	7	138602828	138602828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602828C>T	ENST00000422774.1	-	2	1592	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S515N			Q9HCM3	K1549_HUMAN	KIAA1549		KIAA1549/BRAF(703)	7					GGTTGTAACACTACTCATATC	0.532000			O	BRAF	pilocytic astrocytoma								NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0							SO:0001583	missense			ENST00000422774.1	1	1	hg19	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	8.531	0.871075	0.17322	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25749	1.78;1.79;1.78	4.05	2.15	0.27550	.	0.739620	0.12433	N	0.469386	T	0.14570	0.0352	L	0.27053	0.805	0.09310	N	1	B;P	0.36535	0.421;0.557	B;B	0.35971	0.107;0.215	T	0.16630	-1.0396	10	0.38643	T	0.18	.	2.382	0.04357	0.3473:0.3871:0.1687:0.097	.	515;515	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	N	515;465;515	ENSP00000406661:S515N;ENSP00000242365:S465N;ENSP00000416040:S515N	ENSP00000242365:S465N	S	-	2	0	KIAA1549	138253368	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.137000	0.31479	0.336000	0.23639	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1	22	87	0	28	1	2.790506e-01	2	3	0	28	2		0	0	0	0	0	2	1	9.999994e-01	22	85	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
KIAA1549	57670	broad.mit.edu	37	7	138603632	138603632	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603632C>T	ENST00000422774.1	-	2	788	c.740G>A	c.(739-741)gGc>gAc	p.G247D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G247D			Q9HCM3	K1549_HUMAN	KIAA1549		KIAA1549/BRAF(703)	7					CAAATTCCTGCCAGGAGTTGG	0.512000			O	BRAF	pilocytic astrocytoma								NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0							SO:0001583	missense			ENST00000422774.1	1	1	hg19	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415553	0.62511	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27402	1.67;1.67;1.67	4.89	3.0	0.34707	.	0.691511	0.13271	N	0.400557	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	1	B;B	0.32160	0.244;0.358	B;B	0.30572	0.055;0.117	T	0.12889	-1.0530	10	0.33940	T	0.23	.	12.5247	0.56079	0.0:0.6777:0.3223:0.0	.	247;247	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	D	247;197;247	ENSP00000406661:G247D;ENSP00000242365:G197D;ENSP00000416040:G247D	ENSP00000242365:G197D	G	-	2	0	KIAA1549	138254172	0.000000	0.05858	0.001000	0.08648	0.936000	0.57629	0.710000	0.25748	0.602000	0.29896	-0.305000	0.09177	GGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	1	78	333	0	103	1	2.446075e-01	2	3	0	103	2		0	0	0	0	0	2	1	1	78	331	1	102	15								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1549	57670	broad.mit.edu	37	7	138603904	138603904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603904C>T	ENST00000422774.1	-	2	516	c.468G>A	c.(466-468)gaG>gaA	p.E156E	KIAA1549_ENST00000242365.4_Silent_p.E106E|KIAA1549_ENST00000440172.1_Silent_p.E156E			Q9HCM3	K1549_HUMAN	KIAA1549		KIAA1549/BRAF(703)	7					AGTTATCCATCTCATCGTCAT	0.488000			O	BRAF	pilocytic astrocytoma								NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0							SO:0001819	synonymous_variant			ENST00000422774.1	1	1	hg19	CCDS56513.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1	1	0	0	128	732	0	147	1	3.983226e-01	6	3	0	147	2		0	0	0	0	0	2	1	1	127	724	0	147	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3HAV1L	92092	broad.mit.edu	37	7	138711299	138711299	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138711299G>A	ENST00000275766.1	-	5	905	c.894C>T	c.(892-894)tgC>tgT	p.C298C		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like			10					TTTACTTCTCGCAAGACACTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000275766.1	1	1	hg19	CCDS5850.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	1	0	1	36	223	0	45	0	4.231151e-01	1	9	0	45	2		0	0	0	0	0	2	1	1	36	220	0	44	2								-3.321569	1	1	121412	1	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
ZC3HAV1	56829	broad.mit.edu	37	7	138749734	138749734	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138749734C>T	ENST00000242351.5	-	8	2200	c.1884G>A	c.(1882-1884)cgG>cgA	p.R628R	ZC3HAV1_ENST00000471652.1_Silent_p.R628R|ZC3HAV1_ENST00000464606.1_Silent_p.R750R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1			37					TTGAATTTTTCCGTTTGTCTT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000242351.5	1	1	hg19	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	2.838	-0.241096	0.05906	.	.	ENSG00000105939	ENST00000460845	.	.	.	4.32	1.45	0.22620	.	.	.	.	.	T	0.24547	0.0595	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	4.121	0.10106	0.1632:0.5872:0.158:0.0916	.	.	.	.	K	193	.	.	E	-	1	0	ZC3HAV1	138400274	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.013000	0.13310	0.189000	0.20188	0.644000	0.83932	GAA		TCGA-IB-7651-01A-11D-2154-08	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	1	0	1	54	252	0	70	1	9.999882e-01	19	62	0	70	2		0	0	0	0	0	2	1	1	53	247	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZC3HAV1	56829	broad.mit.edu	37	7	138768566	138768566	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138768566G>A	ENST00000242351.5	-	3	973	c.657C>T	c.(655-657)tgC>tgT	p.C219C	ZC3HAV1_ENST00000471652.1_Silent_p.C219C|ZC3HAV1_ENST00000464606.1_Silent_p.C219C	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1			37					GCTTGCTGTTGCAGATGTCCT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000242351.5	1	1	hg19	CCDS5851.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	1	0	1	55	278	0	64	1	9.998433e-01	19	49	0	64	2		0	0	0	0	0	2	1	1	51	266	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC26	79989	broad.mit.edu	37	7	138819493	138819493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138819493G>T	ENST00000464848.1	+	2	176	c.96G>T	c.(94-96)gaG>gaT	p.E32D	TTC26_ENST00000495038.1_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D|TTC26_ENST00000474035.2_Missense_Mutation_p.E32D|TTC26_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26			24					AACTAGAGGAGCTACTTTCAA	0.418000																								0							SO:0001583	missense			ENST00000464848.1	1	1	hg19	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296372	0.10622	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.41065	1.01;1.03;1.06;1.01;1.02	6.06	1.94	0.25998	.	0.112837	0.64402	N	0.000013	T	0.12390	0.0301	N	0.01874	-0.695	0.38404	D	0.945736	B;B;B;B;B;B;B	0.15473	0.0;0.0;0.001;0.0;0.0;0.013;0.0	B;B;B;B;B;B;B	0.14023	0.001;0.001;0.002;0.0;0.001;0.01;0.001	T	0.28776	-1.0033	10	0.02654	T	1	.	6.0868	0.19973	0.0697:0.2421:0.5559:0.1323	.	32;32;32;32;32;32;32	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	D	32	ENSP00000410655:E32D;ENSP00000418788:E32D;ENSP00000419178:E32D;ENSP00000419279:E32D;ENSP00000339135:E32D	ENSP00000339135:E32D	E	+	3	2	TTC26	138470033	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	0.889000	0.28282	0.404000	0.25506	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	1	0	0	13	289	0	52	1	3.192832e-01	2	23	0	52	2		0	0	0	0	0	2	1	9.995122e-01	13	284	0	52	2								-14.646290	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.530000	0.290000	1.000000	0.500000	0.562211	0.530000	0	3.900000e-01	7.100000e-01
TTC26	79989	broad.mit.edu	37	7	138824680	138824680	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138824680C>T	ENST00000464848.1	+	4	359	c.279C>T	c.(277-279)gtC>gtT	p.V93V	TTC26_ENST00000495038.1_Silent_p.V93V|TTC26_ENST00000478836.2_Silent_p.V93V|TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Silent_p.V93V			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26			24					ATTCTGAAGTCTGGGTGAACC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000464848.1	1	1	hg19	CCDS5852.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	1	0	1	68	309	0	84	1	8.594542e-01	4	14	0	84	2		0	0	0	0	0	2	1	1	68	307	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBN2	254048	broad.mit.edu	37	7	138936723	138936723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936723C>T	ENST00000473989.3	+	3	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	UBN2_ENST00000288561.8_Missense_Mutation_p.R112W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2			42					CCGTAAACACCGGAAGGATCG	0.373000																								0							SO:0001583	missense			ENST00000473989.3	1	1	hg19	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096847	0.76870	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.39229	1.11;1.09	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.68317	2.08	0.49687	D	0.999814	D	0.89917	1.0	D	0.77557	0.99	T	0.65861	-0.6065	10	0.87932	D	0	-9.6286	13.501	0.61454	0.2833:0.7167:0.0:0.0	.	195	Q6ZU65	UBN2_HUMAN	W	18;195;112	ENSP00000418648:R195W;ENSP00000288561:R112W	ENSP00000288561:R112W	R	+	1	2	UBN2	138587263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.599000	0.46231	1.344000	0.45657	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	1	65	366	0	84	1	4.080319e-01	2	7	0	84	2		0	0	0	0	0	2	1	1	63	362	0	84	2								-2.718840	1	0	120792	1	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBN2	254048	broad.mit.edu	37	7	138936758	138936758	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936758C>A	ENST00000473989.3	+	3	618	c.618C>A	c.(616-618)ggC>ggA	p.G206G	UBN2_ENST00000288561.8_Silent_p.G123G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2			42					TTGATATAGGCTTTGGCTATG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000473989.3	1	1	hg19	CCDS43655.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	1	69	416	0	78	1	6.876205e-01	4	12	0	78	2		0	0	0	0	0	2	1	1	68	407	0	77	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBN2	254048	broad.mit.edu	37	7	138946167	138946167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138946167C>T	ENST00000473989.3	+	6	1075	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	UBN2_ENST00000288561.8_Missense_Mutation_p.P276S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2			42					GAATAAACCCCCATGTGCTGC	0.468000																								0							SO:0001583	missense			ENST00000473989.3	1	1	hg19	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076166	0.36662	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.19394	2.15;2.15	6.08	5.2	0.72013	.	0.433070	0.27134	N	0.020763	T	0.19604	0.0471	L	0.52759	1.655	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.13953	-1.0490	9	.	.	.	-2.9185	10.8085	0.46531	0.0:0.8016:0.1305:0.0679	.	359	Q6ZU65	UBN2_HUMAN	S	359;276	ENSP00000418648:P359S;ENSP00000288561:P276S	.	P	+	1	0	UBN2	138596707	0.074000	0.21230	0.044000	0.18714	0.311000	0.27955	1.710000	0.37920	1.593000	0.50029	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	1	61	322	0	74	1	3.771574e-01	2	6	0	74	2		0	0	0	0	0	2	1	1	61	319	0	73	2								-2.889645	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBN2	254048	broad.mit.edu	37	7	138968305	138968305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968305G>A	ENST00000473989.3	+	15	2654	c.2654G>A	c.(2653-2655)aGc>aAc	p.S885N	UBN2_ENST00000288561.8_Missense_Mutation_p.S802N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2			42					CAGAGGTCAAGCCAGATTCAC	0.483000																								0							SO:0001583	missense			ENST00000473989.3	1	1	hg19	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289146	0.40494	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35789	1.33;1.29	5.55	5.55	0.83447	.	0.190170	0.49305	D	0.000144	T	0.29976	0.0750	L	0.43152	1.355	0.33106	D	0.539887	B	0.32245	0.361	B	0.24155	0.051	T	0.40813	-0.9543	10	0.37606	T	0.19	-3.5989	14.6869	0.69055	0.0:0.0:0.8548:0.1451	.	885	Q6ZU65	UBN2_HUMAN	N	885;802	ENSP00000418648:S885N;ENSP00000288561:S802N	ENSP00000288561:S802N	S	+	2	0	UBN2	138618845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.846000	0.55888	2.775000	0.95449	0.467000	0.42956	AGC		TCGA-IB-7651-01A-11D-2154-08	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	0	48	423	0	59	1	5.654604e-01	3	15	0	59	2		0	0	0	0	0	2	1	1	48	413	0	59	2								-3.318794	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.910000	1.000000	1.000000	0.994422	0.990000	1	9.900000e-01	1
UBN2	254048	broad.mit.edu	37	7	138968549	138968549	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968549T>C	ENST00000473989.3	+	15	2898	c.2898T>C	c.(2896-2898)tgT>tgC	p.C966C	UBN2_ENST00000288561.8_Silent_p.C883C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2			42					AACTCTCCTGTTCCTCCTCAC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000473989.3	1	1	hg19	CCDS43655.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	0	0	0	10	342	0	67	0	1.190966e-01	1	18	0	67	2		0	0	0	0	0	2	1	9.965627e-01	10	333	0	67	2								-3.530390	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.350000	0.170000	1.000000	0.330000	0.398353	0.350000	0	2.500000e-01	5.000000e-01
UBN2	254048	broad.mit.edu	37	7	138978654	138978654	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138978654G>T	ENST00000473989.3	+	17	3921	c.3921G>T	c.(3919-3921)caG>caT	p.Q1307H	UBN2_ENST00000288561.8_Missense_Mutation_p.Q1224H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2			42					AGGGTTTACAGCCAGGAGGAG	0.438000																								0							SO:0001583	missense			ENST00000473989.3	1	1	hg19	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275816	0.59649	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.33216	1.42;1.44	5.86	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	N	0.17082	0.46	0.44123	D	0.996905	D	0.62365	0.991	P	0.53185	0.72	T	0.02026	-1.1227	10	0.07990	T	0.79	-10.5282	12.7516	0.57312	0.1324:0.0:0.8676:0.0	.	1307	Q6ZU65	UBN2_HUMAN	H	1307;1224	ENSP00000418648:Q1307H;ENSP00000288561:Q1224H	ENSP00000288561:Q1224H	Q	+	3	2	UBN2	138629194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.501000	0.45389	0.949000	0.37715	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	1	0	1	25	179	0	66	1	5.360726e-01	6	8	0	66	2		0	0	0	0	0	2	1	9.999999e-01	25	176	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.997638	0.990000	1	9.900000e-01	1
KLRG2	346689	broad.mit.edu	37	7	139168360	139168360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139168360C>T	ENST00000340940.4	-	1	98	c.29G>A	c.(28-30)gGa>gAa	p.G10E	KLRG2_ENST00000393039.2_Missense_Mutation_p.G10E	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2			6	Melanoma(164;0.233)				GGCTTGGCCTCCGGGCGCAGC	0.711000																								0							SO:0001583	missense			ENST00000340940.4	0	1	hg19	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	C	6.107	0.388050	0.11581	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.58797	3.38;0.31	3.01	-6.02	0.02192	.	.	.	.	.	T	0.25717	0.0626	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.004	T	0.33292	-0.9874	9	0.02654	T	1	0.0	4.7501	0.13056	0.0:0.2197:0.3042:0.476	.	10;10	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	E	10	ENSP00000339356:G10E;ENSP00000376759:G10E	ENSP00000339356:G10E	G	-	2	0	KLRG2	138818900	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.390000	0.02528	-1.513000	0.01789	-0.680000	0.03767	GGA		TCGA-IB-7651-01A-11D-2154-08	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	1	0	0	15	72	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.998981e-01	15	69	0	12	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999392	0.990000	1	9.900000e-01	1
CLEC2L	154790	broad.mit.edu	37	7	139226862	139226862	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139226862G>A	ENST00000422142.2	+	4	600	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L			5	Melanoma(164;0.233)				CGTTTGATCCGGACACGTGAG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000422142.2	0	1	hg19	CCDS47724.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.684991	0.14973	.	.	ENSG00000236279	ENST00000521281	.	.	.	4.44	-8.89	0.00785	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.32012	N	0.601904	.	.	.	.	.	.	T	0.11131	-1.0600	4	.	.	.	-10.2005	2.878	0.05638	0.5044:0.0892:0.2281:0.1784	.	.	.	.	Q	100	.	.	R	+	2	0	CLEC2L	138877402	0.007000	0.16637	0.247000	0.24249	0.869000	0.49853	-2.660000	0.00851	-2.867000	0.00324	-1.166000	0.01754	CGG		TCGA-IB-7651-01A-11D-2154-08	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1	1	0	1	9	74	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.947986e-01	9	73	0	20	2								-6.986711	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.650000	1.000000	1.000000	0.964766	0.990000	1	9.300000e-01	1
HIPK2	28996	broad.mit.edu	37	7	139285255	139285255	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139285255C>A	ENST00000406875.3	-	11	2437	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2			43	Melanoma(164;0.205)				CATTTAAGGGCTGTGCTGCTG	0.557000																								0							SO:0001583	missense			ENST00000406875.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.50	2.553352	0.45487	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.27720	1.65;1.65;1.65	4.84	0.716	0.18191	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.40005	D	0.975215	D;D	0.63046	0.992;0.988	D;D	0.74674	0.976;0.984	T	0.41752	-0.9491	8	0.49607	T	0.09	.	7.4575	0.27274	0.0:0.6539:0.1212:0.2249	.	781;754	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	781;754;781	ENSP00000385571:Q781H;ENSP00000413724:Q754H;ENSP00000343108:Q781H	ENSP00000343108:Q781H	Q	-	3	2	HIPK2	138935795	1.000000	0.71417	0.999000	0.59377	0.460000	0.32559	1.702000	0.37836	0.258000	0.21686	-0.157000	0.13467	CAG		TCGA-IB-7651-01A-11D-2154-08	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	1	0	1	48	245	0	68	1	8.925953e-01	2	20	0	68	2		0	0	0	0	0	2	1	1	47	239	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIPK2	28996	broad.mit.edu	37	7	139299093	139299093	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139299093C>A	ENST00000406875.3	-	8	2023	c.1929G>T	c.(1927-1929)caG>caT	p.Q643H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2			43	Melanoma(164;0.205)				GGGCACAAATCTGGGCTGTTC	0.587000																								0							SO:0001583	missense			ENST00000406875.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.32	3.360598	0.61403	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.55760	0.5;0.57;0.61	5.48	3.65	0.41850	.	.	.	.	.	T	0.63319	0.2501	.	.	.	0.45150	D	0.998168	P;D	0.64830	0.855;0.994	P;P	0.62740	0.459;0.906	T	0.59118	-0.7514	8	0.26408	T	0.33	.	11.2298	0.48905	0.0:0.8506:0.0:0.1494	.	643;616	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	643;616;643	ENSP00000385571:Q643H;ENSP00000413724:Q616H;ENSP00000343108:Q643H	ENSP00000343108:Q643H	Q	-	3	2	HIPK2	138949633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.014000	0.57145	0.770000	0.33336	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	1	0	1	17	90	0	26	1	9.756044e-01	5	31	0	26	2		0	0	0	0	0	2	1	9.999754e-01	17	88	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999330	0.990000	1	9.900000e-01	1
HIPK2	28996	broad.mit.edu	37	7	139416452	139416452	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139416452T>G	ENST00000406875.3	-	2	476	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2			43	Melanoma(164;0.205)				AGTCCACATTTTTGGTAGGTA	0.542000																								0							SO:0001583	missense			ENST00000406875.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	20.3	3.959497	0.74016	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.51817	0.69;0.72;0.7	5.28	5.28	0.74379	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.44254	D	0.997109	P;P	0.39665	0.682;0.59	B;B	0.33690	0.115;0.168	T	0.27839	-1.0062	8	0.39692	T	0.17	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	128;128	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	128	ENSP00000385571:K128Q;ENSP00000413724:K128Q;ENSP00000343108:K128Q	ENSP00000343108:K128Q	K	-	1	0	HIPK2	139062938	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.346000	0.65992	1.987000	0.57996	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	1	0	1	23	164	0	35	0	9.616703e-01	1	40	0	35	2		0	0	0	0	0	2	1	9.999995e-01	23	162	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.960000	1.000000	1.000000	0.997144	0.990000	1	9.900000e-01	1
ETV1	2115	broad.mit.edu	37	7	13946113	13946113	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:13946113G>A	ENST00000430479.1	-	12	1719	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000343495.5_Missense_Mutation_p.S333F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F|ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000405358.4_Missense_Mutation_p.S365F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	31					AATAAAATGAGAATTTGAAGG	0.433000			T	EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3	Ewing sarcoma, prostate										Dom	yes		7	7p22	2115	ets variant gene 1		M, E	0							SO:0001583	missense			ENST00000430479.1	0	1	hg19	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778141	0.90195	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.9	5.9	0.94986	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.993;0.999;0.998;0.998;0.998;0.997	D;P;D;D;D;D;D	0.83275	0.989;0.905;0.972;0.992;0.993;0.996;0.961	T	0.75950	-0.3137	10	0.87932	D	0	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	339;333;365;293;248;311;351	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	F	351;333;333;293;248;328;365;311;351;333	ENSP00000405327:S351F;ENSP00000242066:S333F;ENSP00000340853:S333F;ENSP00000411626:S293F;ENSP00000382293:S248F;ENSP00000385381:S328F;ENSP00000384085:S365F;ENSP00000384138:S311F;ENSP00000385551:S351F;ENSP00000385686:S333F	ENSP00000242066:S333F	S	-	2	0	ETV1	13912638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.550000	0.73905	2.793000	0.96121	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	1	0	0	16	68	0	8	0	9.993830e-01	0	58	0	8	2		0	0	0	0	0	2	1	9.999455e-01	16	64	0	8	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999793	0.990000	1	9.900000e-01	1
TBXAS1	6916	broad.mit.edu	37	7	139655298	139655298	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139655298G>A	ENST00000336425.5	+	11	969	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A195T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)			28	Melanoma(164;0.0142)			Ridogrel(DB01207)|Sulfasalazine(DB00795)	TGCCAGCGTCGCCTTTGGCAC	0.567000																								0							SO:0001583	missense			ENST00000336425.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.35	3.604960	0.66445	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.79	4.9	0.64082	.	0.052582	0.85682	D	0.000000	D	0.84520	0.5490	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.991;0.982;0.998;1.0;0.991;0.998;0.998	D	0.87738	0.2583	10	0.66056	D	0.02	.	16.246	0.82445	0.0:0.0:0.8662:0.1338	.	175;241;146;127;195;195;194	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	T	127;195;194;241;195;195;194;240;194	ENSP00000388736:A127T;ENSP00000263552:A195T;ENSP00000338087:A194T;ENSP00000389414:A241T;ENSP00000392361:A195T;ENSP00000392702:A195T;ENSP00000402536:A194T;ENSP00000411274:A240T;ENSP00000411326:A194T	ENSP00000263552:A195T	A	+	1	0	TBXAS1	139301767	1.000000	0.71417	0.887000	0.34795	0.021000	0.10359	8.723000	0.91458	1.428000	0.47296	-0.182000	0.12963	GCC		TCGA-IB-7651-01A-11D-2154-08	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1	1	0	1	126	573	1	126	0	9.999995e-01	3	142	1	126	6		0	0	0	0	0	2	1	1	124	566	2	126	25								-20.000000	1	1	121412	3	41	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARP12	64761	broad.mit.edu	37	7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12			19	Melanoma(164;0.0142)				TTCTGTACTCGCTCAATCTTC	0.537000																								0							SO:0001587	stop_gained			ENST00000263549.3	0	1	hg19	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	47	13.537700	0.99748	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.6	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0693	0.59050	0.0:0.0:0.592:0.408	.	.	.	.	X	531	.	ENSP00000263549:R531X	R	-	1	2	PARP12	139373582	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.868000	0.39509	1.335000	0.45486	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	1	0	1	65	272	0	82	1	1	2	168	0	82	2		0	0	0	0	0	2	1	1	64	268	0	82	2								-3.137273	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JHDM1D	0	broad.mit.edu	37	7	139829450	139829450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139829450G>A	ENST00000397560.2	-	4	499	c.402C>T	c.(400-402)gcC>gcT	p.A134A	JHDM1D_ENST00000006967.5_Silent_p.A134A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN				22	Melanoma(164;0.0142)				TTATTTCATCGGCACTAAGGA	0.328000																								0							SO:0001819	synonymous_variant			ENST00000397560.2	1	1	hg19	CCDS43658.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1	1	0	1	34	181	0	55	1	7.742584e-01	5	12	0	55	2		0	0	0	0	0	2	1	1	34	179	0	54	2								-2.996458	1	1	120798	3	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
SLC37A3	84255	broad.mit.edu	37	7	140051074	140051074	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140051074G>A	ENST00000326232.9	-	9	1084	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Splice_Site_p.P294L|SLC37A3_ENST00000340308.3_Splice_Site_p.P294L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3			24	Melanoma(164;0.0142)				GGTCCTTACCGGTATGACTCC	0.478000													Esophageal Squamous(133;211 1716 4665 11387 37873)											0							SO:0001630	splice_region_variant			ENST00000326232.9	1	0	hg19	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.99|12.99	2.104485|2.104485	0.37145|0.37145	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000485734	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	4.9|4.9	2.36|2.36	0.29203|0.29203	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.232813|.	0.46442|.	N|.	0.000296|.	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14012|.	0.003;0.009;0.003|.	B;B;B|.	0.15052|.	0.005;0.012;0.009|.	T|T	0.08659|0.08659	-1.0711|-1.0711	10|5	0.33141|.	T|.	0.24|.	-48.9586|-48.9586	4.9445|4.9445	0.13982|0.13982	0.5043:0.0:0.4957:0.0|0.5043:0.0:0.4957:0.0	.|.	294;294;294|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	L|C	294|73	ENSP00000343358:P294L;ENSP00000397481:P294L;ENSP00000321498:P294L|.	ENSP00000321498:P294L|.	P|R	-|-	2|1	0|0	SLC37A3|SLC37A3	139697543|139697543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.871000|1.871000	0.39539|0.39539	1.024000|1.024000	0.39682|0.39682	0.650000|0.650000	0.86243|0.86243	CCG|CGT		TCGA-IB-7651-01A-11D-2154-08	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	1	0	1	30	240	0	56	1	9.977582e-01	2	76	0	56	2		0	0	0	0	0	2	1	1	30	236	0	55	2								-2.690432	1	1	121412	144	49	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.910000	1.000000	1.000000	0.995315	0.990000	1	9.900000e-01	1
RAB19	401409	broad.mit.edu	37	7	140111711	140111711	+	Missense_Mutation	SNP	G	G	A	rs146219058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140111711G>A	ENST00000356407.3	+	2	307	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RAB19_ENST00000275874.5_Missense_Mutation_p.R127H|RAB19_ENST00000537763.1_Missense_Mutation_p.R80H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family			9	Melanoma(164;0.0142)				GAGCGCTTCCGCACCATCACC	0.582000																								0							SO:0001583	missense			ENST00000356407.3	1	1	hg19	CCDS34762.2	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	22.2	4.254546	0.80135	6.81E-4	0.0	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.59	4.68	0.58851	Small GTP-binding protein domain (1);	0.098409	0.64402	D	0.000001	T	0.82139	0.4972	M	0.75447	2.3	0.80722	D	1	D	0.59357	0.985	P	0.50378	0.639	D	0.84581	0.0661	10	0.87932	D	0	.	13.6217	0.62140	0.0775:0.0:0.9225:0.0	.	80	A4D1S5	RAB19_HUMAN	H	80;127;80;80	ENSP00000420782:R80H;ENSP00000275874:R127H;ENSP00000440167:R80H;ENSP00000348778:R80H	ENSP00000275874:R127H	R	+	2	0	RAB19	139758180	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.678000	0.68153	1.300000	0.44818	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1	1	0	1	59	315	0	74	1	3.725781e-01	3	5	0	74	2		0	0	0	0	0	2	1	1	58	311	0	74	2								-3.151672	1	1	121412	16	43	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MKRN1	23608	broad.mit.edu	37	7	140156610	140156610	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140156610G>A	ENST00000255977.2	-	5	1052	c.828C>T	c.(826-828)agC>agT	p.S276S	MKRN1_ENST00000480552.1_Missense_Mutation_p.A60V|MKRN1_ENST00000474576.1_Silent_p.S212S|MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000443720.2_Silent_p.S276S	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1			16	Melanoma(164;0.00956)				CCATGTCCTTGCTGCGCTGCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000255977.2	1	1	hg19	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561816	0.27915	.	.	ENSG00000133606	ENST00000480552	.	.	.	5.11	-4.25	0.03766	.	.	.	.	.	T	0.64746	0.2626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65569	-0.6136	5	0.37606	T	0.19	.	14.1562	0.65419	0.5958:0.0:0.4042:0.0	.	.	.	.	V	60	.	ENSP00000419894:A60V	A	-	2	0	MKRN1	139803079	0.199000	0.23386	0.951000	0.38953	0.999000	0.98932	-0.268000	0.08607	-0.801000	0.04427	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	0	0	1	36	190	0	50	1	1	111	303	0	50	2		0	0	0	0	0	2	1	1	35	186	0	50	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
DENND2A	27147	broad.mit.edu	37	7	140302109	140302109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140302109T>C	ENST00000275884.6	-	2	506	c.89A>G	c.(88-90)aAc>aGc	p.N30S	DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S|DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S|DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A			49	Melanoma(164;0.00956)				TGGGCAAGGGTTCTGAACACC	0.522000																								0							SO:0001583	missense			ENST00000275884.6	1	1	hg19	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324022	0.24080	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.91	-2.35	0.06684	.	0.760646	0.11806	N	0.527668	T	0.60958	0.2309	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.007;0.002	T	0.42292	-0.9460	10	0.18276	T	0.48	-8.5843	5.9459	0.19219	0.0:0.2146:0.371:0.4144	.	30;30	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	30	ENSP00000275884:N30S;ENSP00000442245:N30S;ENSP00000419654:N30S;ENSP00000419464:N30S;ENSP00000418844:N30S;ENSP00000418088:N30S	ENSP00000275884:N30S	N	-	2	0	DENND2A	139948578	0.001000	0.12720	0.001000	0.08648	0.146000	0.21551	-0.537000	0.06128	-0.572000	0.06006	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	1	0	1	69	344	0	87	0	9.002614e-01	0	22	0	87	2		0	0	0	0	0	2	1	1	68	336	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCK2	90956	broad.mit.edu	37	7	140373894	140373894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140373894G>A	ENST00000072869.4	+	1	942	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2			15	Melanoma(164;0.00956)				GAGCTCTTTGGATACCTTGGA	0.557000																								0							SO:0001583	missense			ENST00000072869.4	1	1	hg19	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554702|2.554702	0.45487|0.45487	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491|ENST00000483369	T;T|.	0.11604|.	3.12;2.76|.	3.72|3.72	1.83|1.83	0.25207|0.25207	.|.	0.286988|.	0.30085|.	N|.	0.010442|.	T|.	0.40398|.	0.1115|.	L|L	0.54323|0.54323	1.7|1.7	0.27893|0.27893	N|N	0.939245|0.939245	P;P|.	0.41313|.	0.745;0.745|.	B;B|.	0.39935|.	0.314;0.314|.	T|.	0.31586|.	-0.9938|.	10|.	0.49607|.	T|.	0.09|.	-1.8332|-1.8332	5.9138|5.9138	0.19043|0.19043	0.1818:0.1595:0.6587:0.0|0.1818:0.1595:0.6587:0.0	.|.	255;255|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	E|X	255|92	ENSP00000072869:G255E;ENSP00000420512:G255E|.	ENSP00000072869:G255E|.	G|W	+|+	2|3	0|0	ADCK2|ADCK2	140020363|140020363	0.742000|0.742000	0.28228|0.28228	0.007000|0.007000	0.13788|0.13788	0.017000|0.017000	0.09413|0.09413	1.173000|1.173000	0.31920|0.31920	0.240000|0.240000	0.21263|0.21263	0.561000|0.561000	0.74099|0.74099	GGA|TGG		TCGA-IB-7651-01A-11D-2154-08	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	1	0	1	77	319	0	72	1	1	56	87	0	72	2		0	0	0	0	0	2	1	1	75	312	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCK2	90956	broad.mit.edu	37	7	140386814	140386814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140386814G>A	ENST00000072869.4	+	5	1508	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2			15	Melanoma(164;0.00956)				CTTTGTCCATGCAGACCTTCA	0.537000																								0							SO:0001583	missense			ENST00000072869.4	1	1	hg19	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.255380|4.255380	0.80135|0.80135	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512|ENST00000483369	T;T;T|.	0.12361|.	2.69;2.69;2.69|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.147326|.	0.46442|.	D|.	0.000299|.	T|T	0.77857|0.77857	0.4193|0.4193	M|M	0.77313|0.77313	2.365|2.365	0.47276|0.47276	D|D	0.999379|0.999379	B;P|.	0.52842|.	0.397;0.956|.	B;P|.	0.52424|.	0.278;0.698|.	T|T	0.77710|0.77710	-0.2486|-0.2486	10|5	0.87932|.	D|.	0|.	-18.9077|-18.9077	18.9433|18.9433	0.92612|0.92612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	444;444|.	C9JE15;Q7Z695|.	.;ADCK2_HUMAN|.	T|Y	444;444;84|281	ENSP00000072869:A444T;ENSP00000420512:A444T;ENSP00000420288:A84T|.	ENSP00000072869:A444T|.	A|C	+|+	1|2	0|0	ADCK2|ADCK2	140033283|140033283	1.000000|1.000000	0.71417|0.71417	0.350000|0.350000	0.25708|0.25708	0.098000|0.098000	0.18820|0.18820	9.218000|9.218000	0.95166|0.95166	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCA|TGC		TCGA-IB-7651-01A-11D-2154-08	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	1	0	1	102	465	0	139	1	1	28	109	0	139	2		0	0	0	0	0	2	1	1	101	458	0	137	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WEE2	494551	broad.mit.edu	37	7	141416030	141416030	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141416030C>T	ENST00000397541.2	+	3	954	c.548C>T	c.(547-549)gCt>gTt	p.A183V	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)			31	Melanoma(164;0.0171)				AGTGAGGAAGCTGGTCCAGAG	0.393000																								0							SO:0001583	missense			ENST00000397541.2	1	1	hg19	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.674752	0.47781	.	.	ENSG00000214102	ENST00000397541	T	0.23552	1.9	4.01	2.18	0.27775	.	11.907100	0.01046	U	0.004386	T	0.29288	0.0729	L	0.57536	1.79	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.18713	-1.0328	10	0.42905	T	0.14	.	6.6502	0.22957	0.0:0.78:0.0:0.22	.	183	P0C1S8	WEE2_HUMAN	V	183	ENSP00000380675:A183V	ENSP00000380675:A183V	A	+	2	0	WEE2	141062499	0.047000	0.20315	0.013000	0.15412	0.928000	0.56348	1.146000	0.31589	0.461000	0.27071	0.556000	0.70494	GCT		TCGA-IB-7651-01A-11D-2154-08	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	1	0	1	87	432	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	83	408	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WEE2	494551	broad.mit.edu	37	7	141420796	141420796	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141420796C>T	ENST00000397541.2	+	5	1226	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000486906.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)			31	Melanoma(164;0.0171)				CCATGTGGTACGTTACTATTC	0.408000																								0							SO:0001583	missense			ENST00000397541.2	1	1	hg19	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925600	0.92319	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.68181	0.88;-0.31	5.53	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	D	0.84986	0.5594	H	0.95780	3.72	0.80722	D	1	D	0.56035	0.974	P	0.59357	0.856	D	0.89509	0.3770	10	0.87932	D	0	.	14.5441	0.68015	0.0:0.9296:0.0:0.0704	.	274	P0C1S8	WEE2_HUMAN	C	274;49	ENSP00000380675:R274C;ENSP00000420388:R49C	ENSP00000380675:R274C	R	+	1	0	WEE2	141067265	1.000000	0.71417	0.776000	0.31678	0.983000	0.72400	4.624000	0.61254	1.342000	0.45619	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	1	0	1	111	546	0	112	0	0	0	1	0	112	2		0	0	0	0	0	2	1	1	111	539	0	112	2								-20.000000	1	1	120850	5	40	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WEE2	494551	broad.mit.edu	37	7	141430103	141430103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141430103C>T	ENST00000397541.2	+	12	2093	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000486906.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	p.R563C(1)		31	Melanoma(164;0.0171)				AGCAGGAGAGCGTGAGCCTCT	0.418000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000397541.2	1	1	hg19	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397862	0.25205	2.66E-4	0.0	ENSG00000214102	ENST00000397541	T	0.57595	0.39	4.59	3.71	0.42584	.	0.700724	0.12953	U	0.425718	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	P	0.40931	0.733	B	0.33799	0.17	T	0.06716	-1.0811	10	0.54805	T	0.06	.	8.663	0.34103	0.0:0.8958:0.0:0.1042	.	563	P0C1S8	WEE2_HUMAN	C	563	ENSP00000380675:R563C	ENSP00000380675:R563C	R	+	1	0	WEE2	141076572	0.000000	0.05858	0.061000	0.19648	0.016000	0.09150	-0.330000	0.07925	1.280000	0.44463	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	1	0	1	53	180	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	52	177	0	41	2								-20.000000	1	1	120820	6	38	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAS2R3	50831	broad.mit.edu	37	7	141464292	141464292	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141464292G>A	ENST00000247879.2	+	1	396	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3			14	Melanoma(164;0.0171)				CCTGAAAATCGCCAGTTTCTC	0.463000																								0							SO:0001583	missense			ENST00000247879.2	1	1	hg19	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623043	0.66901	.	.	ENSG00000127362	ENST00000247879	T	0.36520	1.25	6.04	3.24	0.37175	.	0.226757	0.36167	N	0.002748	T	0.55417	0.1919	M	0.83312	2.635	0.25831	N	0.984168	D	0.89917	1.0	D	0.97110	1.0	T	0.51403	-0.8710	10	0.87932	D	0	.	3.2114	0.06684	0.1503:0.1377:0.5698:0.1422	.	112	Q9NYW6	TA2R3_HUMAN	T	112	ENSP00000247879:A112T	ENSP00000247879:A112T	A	+	1	0	TAS2R3	141110761	0.973000	0.33851	0.427000	0.26684	0.740000	0.42216	1.678000	0.37586	0.422000	0.26005	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1	1	0	0	81	1017	0	236	0	0	1	0	0	236	2		0	0	0	0	0	2	1	1	78	999	0	233	2								-3.318794	1	1	121412	1	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.870000	0.700000	1.000000	1.000000	0.880571	0.870000	1	7.800000e-01	9.900000e-01
TAS2R38	5726	broad.mit.edu	37	7	141672501	141672501	+	Missense_Mutation	SNP	C	C	T	rs137902035	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672501C>T	ENST00000547270.1	-	1	1072	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38			21	Melanoma(164;0.0171)				GCACAGTGTCCGGGAATCTGC	0.478000																								0							SO:0001583	missense			ENST00000547270.1	1	0	hg19	CCDS34765.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.52	1.664386	0.29604	2.27E-4	0.0	ENSG00000257138	ENST00000547270	T	0.00816	5.66	4.86	-1.25	0.09405	.	5.277620	0.00559	N	0.000275	T	0.01287	0.0042	L	0.51422	1.61	0.09310	N	1	B	0.25955	0.138	B	0.12156	0.007	T	0.47497	-0.9113	10	0.72032	D	0.01	.	4.0766	0.09908	0.1648:0.374:0.0:0.4612	.	330	P59533	T2R38_HUMAN	Q	330	ENSP00000448219:R330Q	ENSP00000331291:R330Q	R	-	2	0	TAS2R38	141318970	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.070000	0.14573	-0.151000	0.11176	-0.136000	0.14681	CGG		TCGA-IB-7651-01A-11D-2154-08	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	1	0	1	47	306	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	45	297	0	70	2								-2.841938	1	1	121412	7	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999955	0.990000	1	9.900000e-01	1
TAS2R38	5726	broad.mit.edu	37	7	141672855	141672855	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672855G>T	ENST00000547270.1	-	1	718	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38			21	Melanoma(164;0.0171)				CATCCCAGAAGAAACCAGAAA	0.458000																								0							SO:0001583	missense			ENST00000547270.1	1	1	hg19	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039484	0.35989	.	.	ENSG00000257138	ENST00000547270	T	0.46063	0.88	5.0	4.12	0.48240	.	0.161646	0.41396	D	0.000884	T	0.63768	0.2539	M	0.83223	2.63	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57207	-0.7851	10	0.87932	D	0	.	9.2222	0.37384	0.0978:0.0:0.9022:0.0	.	212	P59533	T2R38_HUMAN	Y	212	ENSP00000448219:S212Y	ENSP00000331291:S212Y	S	-	2	0	TAS2R38	141319324	0.556000	0.26538	0.188000	0.23233	0.343000	0.28985	2.888000	0.48594	1.338000	0.45544	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	1	0	1	50	256	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	48	252	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAS2R38	5726	broad.mit.edu	37	7	141673051	141673051	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141673051T>C	ENST00000547270.1	-	1	522	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38			21	Melanoma(164;0.0171)				CAAAGAATAATACCCAGGAGC	0.478000																								0							SO:0001583	missense			ENST00000547270.1	0	1	hg19	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.407434	0.01155	.	.	ENSG00000257138	ENST00000547270	T	0.37411	1.2	4.7	-1.58	0.08479	.	2.377230	0.02256	N	0.067079	T	0.14013	0.0339	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23084	-1.0198	10	0.02654	T	1	.	3.9799	0.09490	0.1721:0.3174:0.0:0.5105	.	147	P59533	T2R38_HUMAN	V	147	ENSP00000448219:I147V	ENSP00000331291:I147V	I	-	1	0	TAS2R38	141319520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.260000	0.08708	-0.092000	0.12417	-0.408000	0.06270	ATT		TCGA-IB-7651-01A-11D-2154-08	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	0	0	0	6	196	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	9.645769e-01	6	194	0	39	2								-8.549471	1	1	121408	22	42	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.380000	0.150000	1.000000	0.350000	0.430229	0.380000	0	2.500000e-01	5.800000e-01
PRSS1	5644	broad.mit.edu	37	7	142460283	142460283	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460283C>T	ENST00000311737.7	+	4	462	c.456C>T	c.(454-456)gcC>gcT	p.A152A	PRSS1_ENST00000486171.1_Splice_Site_p.A166A	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)			38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)	Aprotinin(DB06692)	TCCTCACAGCCGACTACCCAG	0.512000																								0							SO:0001630	splice_region_variant			ENST00000311737.7	0	1	hg19	CCDS5872.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2	0	0	0	58	1498	0	353	1	1	3	6740	0	353	2	1	9.999999e-01	51	905	1	749	7	1	1	43	1387	0	355	2								-3.399467	1	1	121412	5	40	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.440000	0.330000	1.000000	0.440000	0.477651	0.440000	0	3.800000e-01	5.200000e-01
PRSS1	5644	broad.mit.edu	37	7	142460861	142460861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460861C>T	ENST00000311737.7	+	5	740	c.734C>T	c.(733-735)gCc>gTc	p.A245V	PRSS1_ENST00000486171.1_Missense_Mutation_p.A259V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)			38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)	Aprotinin(DB06692)	ACCATAGCTGCCAATAGCTAA	0.488000																								0							SO:0001583	missense			ENST00000311737.7	1	1	hg19	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013962	0.19277	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.88818	-2.43;-2.42	3.18	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);	0.152972	0.64402	D	0.000014	D	0.82674	0.5088	L	0.35644	1.08	0.38549	D	0.949409	B;B	0.18968	0.032;0.032	B;B	0.17098	0.017;0.015	T	0.78548	-0.2162	10	0.59425	D	0.04	.	11.2031	0.48754	0.0:0.8106:0.1894:0.0	.	259;245	E7EQ64;P07477	.;TRY1_HUMAN	V	259;245;235	ENSP00000417854:A259V;ENSP00000308720:A245V	ENSP00000308720:A245V	A	+	2	0	PRSS1	142140435	0.510000	0.26171	0.780000	0.31762	0.016000	0.09150	0.322000	0.19576	0.580000	0.29522	0.195000	0.17529	GCC		TCGA-IB-7651-01A-11D-2154-08	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2	1	0	1	56	360	0	110	0	1	0	2902	0	110	2	1	1	97	389	0	420	2	1	1	56	346	0	107	2								-19.999910	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
EPHB6	2051	broad.mit.edu	37	7	142564791	142564791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142564791G>A	ENST00000392957.2	+	11	2502	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6			87	Melanoma(164;0.059)				GGCCCCTACGGGGGCAAAGTC	0.637000																								0							SO:0001583	missense			ENST00000392957.2	1	1	hg19	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878146	0.91664	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.53640	0.61;0.61;0.61	5.12	5.12	0.69794	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000155	T	0.66577	0.2803	M	0.62723	1.935	0.46458	D	0.999051	D;D	0.76494	0.999;0.998	D;P	0.70487	0.969;0.9	T	0.70132	-0.4956	10	0.87932	D	0	.	17.5466	0.87864	0.0:0.0:1.0:0.0	.	572;295	O15197;O15197-2	EPHB6_HUMAN;.	E	572;572;295	ENSP00000376684:G572E;ENSP00000410789:G572E;ENSP00000409061:G295E	ENSP00000376684:G572E	G	+	2	0	EPHB6	142274913	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.395000	0.97266	2.368000	0.80403	0.555000	0.69702	GGG		TCGA-IB-7651-01A-11D-2154-08	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1	1	0	1	71	305	0	60	1	9.913487e-01	2	32	0	60	2		0	0	0	0	0	2	1	1	71	300	0	57	2								-3.041384	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHB6	2051	broad.mit.edu	37	7	142566809	142566809	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142566809T>G	ENST00000392957.2	+	16	3153	c.2366T>G	c.(2365-2367)tTt>tGt	p.F789C	EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6			87	Melanoma(164;0.059)				CTGTCCAGCTTTGCCTTCGTC	0.642000																								0							SO:0001583	missense			ENST00000392957.2	1	1	hg19	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	14.28	2.486867	0.44249	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82526	-1.62;-1.62;-1.62	5.56	4.45	0.53987	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144593	0.32533	N	0.005977	T	0.67192	0.2867	N	0.05199	-0.095	0.37223	D	0.905338	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.69165	-0.5217	10	0.66056	D	0.02	.	12.7526	0.57316	0.0:0.0:0.1672:0.8328	.	789;512	O15197;O15197-2	EPHB6_HUMAN;.	C	789;789;512	ENSP00000376684:F789C;ENSP00000410789:F789C;ENSP00000409061:F512C	ENSP00000376684:F789C	F	+	2	0	EPHB6	142276931	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.210000	0.58500	2.112000	0.64535	0.379000	0.24179	TTT		TCGA-IB-7651-01A-11D-2154-08	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1	1	0	1	31	201	0	35	1	8.986872e-01	2	26	0	35	2		0	0	0	0	0	2	1	1	31	200	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999645	0.990000	1	9.900000e-01	1
TRPV6	55503	broad.mit.edu	37	7	142572291	142572291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142572291C>T	ENST00000359396.3	-	11	1650	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6			42	Melanoma(164;0.059)				AATCCTCGGGCGAAGTACATG	0.592000																								0							SO:0001583	missense			ENST00000359396.3	1	1	hg19	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635558	0.67130	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85955	-2.05;-2.05	4.32	3.43	0.39272	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	L	0.35487	1.065	0.80722	D	1	D	0.59767	0.986	P	0.55391	0.775	T	0.77239	-0.2661	10	0.10377	T	0.69	-24.1663	11.7795	0.52006	0.0:0.9133:0.0:0.0867	.	469	Q9H1D0	TRPV6_HUMAN	T	469;301;92	ENSP00000352358:A469T;ENSP00000411100:A92T	ENSP00000310825:A301T	A	-	1	0	TRPV6	142282413	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.616000	0.83018	1.175000	0.42826	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	1	0	1	69	389	0	109	1	9.981196e-01	6	49	0	109	2		0	0	0	0	0	2	1	1	67	383	0	106	2								-3.144308	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPV6	55503	broad.mit.edu	37	7	142575012	142575012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142575012C>T	ENST00000359396.3	-	4	615	c.370G>A	c.(370-372)Gct>Act	p.A124T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6			42	Melanoma(164;0.059)				TTCACAACAGCGATGTGCAGT	0.627000																								0							SO:0001583	missense			ENST00000359396.3	1	1	hg19	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227596	0.79576	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	D;T	0.81996	-1.56;-1.43	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.053052	0.85682	D	0.000000	D	0.91942	0.7448	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.93893	0.7181	10	0.72032	D	0.01	-12.2989	14.9814	0.71313	0.0:1.0:0.0:0.0	.	124	Q9H1D0	TRPV6_HUMAN	T	124;51	ENSP00000352358:A124T;ENSP00000415917:A51T	ENSP00000352358:A124T	A	-	1	0	TRPV6	142285134	1.000000	0.71417	0.550000	0.28217	0.993000	0.82548	7.209000	0.77916	1.995000	0.58328	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	1	0	1	57	362	0	89	1	9.577543e-01	6	29	0	89	2		0	0	0	0	0	2	1	1	56	357	0	88	2								-19.999960	1	1	121412	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
KEL	3792	broad.mit.edu	37	7	142651023	142651023	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142651023G>A	ENST00000355265.2	-	9	1419	c.945C>T	c.(943-945)gaC>gaT	p.D315D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase			60	Melanoma(164;0.059)				AGGACAACCAGTCGATGGCGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000355265.2	1	1	hg19	CCDS34766.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	1	0	0	59	551	0	122	0	9.724163e-03	0	2	0	122	2		0	0	0	0	0	2	1	1	59	539	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.880000	1.000000	1.000000	0.991561	0.990000	1	9.900000e-01	1
KEL	3792	broad.mit.edu	37	7	142655466	142655466	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142655466C>T	ENST00000355265.2	-	5	924	c.450G>A	c.(448-450)caG>caA	p.Q150Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase			60	Melanoma(164;0.059)				AGTTGTAGAACTGGAAGGCTT	0.468000																								0							SO:0001819	synonymous_variant			ENST00000355265.2	1	1	hg19	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	7.317	0.616103	0.14129	.	.	ENSG00000197993	ENST00000460479	.	.	.	5.82	-11.6	0.00059	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.45015	D	0.998033	.	.	.	.	.	.	T	0.61212	-0.7108	4	.	.	.	-5.1862	10.7615	0.46268	0.0:0.5237:0.3217:0.1546	.	.	.	.	I	161	.	.	V	-	1	0	KEL	142365588	0.006000	0.16342	0.424000	0.26647	0.825000	0.46686	-1.360000	0.02600	-1.456000	0.01921	-0.225000	0.12378	GTT		TCGA-IB-7651-01A-11D-2154-08	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	1	0	1	33	243	0	61	0	1.621062e-01	0	6	0	61	2		0	0	0	0	0	2	1	1	32	234	0	61	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998576	0.990000	1	9.900000e-01	1
TAS2R40	259286	broad.mit.edu	37	7	142920107	142920107	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142920107C>T	ENST00000408947.3	+	1	978	c.936C>T	c.(934-936)caC>caT	p.H312H	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40			8	Melanoma(164;0.059)				GGTTTCAGCACCAAGTTCCTC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000408947.3	1	1	hg19	CCDS43662.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1	1	0	1	67	249	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	65	245	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP2	835	broad.mit.edu	37	7	142991359	142991359	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142991359C>A	ENST00000310447.5	+	5	753	c.512C>A	c.(511-513)cCt>cAt	p.P171H	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase			21	Melanoma(164;0.059)				AAAGATGGTCCTGTCTGCCTT	0.383000																								0							SO:0001583	missense			ENST00000310447.5	1	1	hg19	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583897	0.86748	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.02103	4.45	5.78	5.78	0.91487	.	0.250574	0.43747	D	0.000528	T	0.09247	0.0228	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.55965	0.788	T	0.01090	-1.1455	10	0.48119	T	0.1	.	18.246	0.89986	0.0:1.0:0.0:0.0	.	171	P42575	CASP2_HUMAN	H	171;140	ENSP00000312664:P171H	ENSP00000312664:P171H	P	+	2	0	CASP2	142701481	0.999000	0.42202	0.993000	0.49108	0.923000	0.55619	6.030000	0.70903	2.752000	0.94435	0.555000	0.69702	CCT		TCGA-IB-7651-01A-11D-2154-08	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	1	0	1	91	442	0	117	1	9.955444e-01	14	28	0	117	2		0	0	0	0	0	2	1	1	89	436	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASP2	835	broad.mit.edu	37	7	143001775	143001775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143001775G>A	ENST00000310447.5	+	10	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase			21	Melanoma(164;0.059)				AGGGACTGCCGCCATGCGGAA	0.537000																								0							SO:0001583	missense			ENST00000310447.5	1	1	hg19	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325193	0.81580	.	.	ENSG00000106144	ENST00000310447	T	0.24908	1.83	5.28	5.28	0.74379	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.155507	0.56097	D	0.000027	T	0.51991	0.1707	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.56589	-0.7954	10	0.72032	D	0.01	.	13.8831	0.63693	0.0:0.0:0.8476:0.1524	.	376	P42575	CASP2_HUMAN	T	376	ENSP00000312664:A376T	ENSP00000312664:A376T	A	+	1	0	CASP2	142711897	1.000000	0.71417	0.960000	0.40013	0.577000	0.36160	7.290000	0.78711	2.480000	0.83734	0.644000	0.83932	GCC		TCGA-IB-7651-01A-11D-2154-08	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	1	0	1	68	467	0	142	1	9.990286e-01	12	60	0	142	2		0	0	0	0	0	2	1	1	68	461	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
FAM131B	9715	broad.mit.edu	37	7	143053714	143053714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143053714G>A	ENST00000409408.1	-	6	2636	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W|FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W|FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B			24	Melanoma(164;0.205)				GACACCTTCCGGCTGAGAGCG	0.582000																								0							SO:0001583	missense			ENST00000409408.1	1	1	hg19	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960051	0.74016	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.81	2.9	0.33743	.	0.131595	0.52532	D	0.000072	T	0.60418	0.2267	M	0.61703	1.905	0.48830	D	0.999715	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.65681	-0.6109	10	0.87932	D	0	-22.6696	15.1848	0.72993	0.0:0.0:0.6325:0.3675	.	326;310	Q86XD5-2;Q86XD5	.;F131B_HUMAN	W	338;326;310;314;310;310	ENSP00000410603:R338W;ENSP00000386568:R326W;ENSP00000386984:R310W;ENSP00000387017:R310W;ENSP00000387147:R310W	ENSP00000387147:R310W	R	-	1	2	FAM131B	142763836	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.229000	0.51278	0.775000	0.33450	-0.169000	0.13324	CGG		TCGA-IB-7651-01A-11D-2154-08	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	1	0	0	80	934	0	187	0	6.428123e-03	0	2	0	187	2		0	0	0	0	0	2	1	1	80	905	0	185	2								-2.920853	1	1	121412	1	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.930000	0.740000	1.000000	1.000000	0.926151	0.930000	1	8.300000e-01	1
ZYX	7791	broad.mit.edu	37	7	143079460	143079460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079460G>T	ENST00000322764.5	+	3	673	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin			17	Melanoma(164;0.205)				TGCGCCTCTGGAGGAGGAGAT	0.701000																								0							SO:0001587	stop_gained			ENST00000322764.5	0	1	hg19	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	39	7.639934	0.98406	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000354434;ENST00000449423	.	.	.	3.41	2.47	0.30058	.	1.454090	0.04456	N	0.373560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	9.4854	0.38926	0.0:0.0:0.7876:0.2124	.	.	.	.	X	110;79;110;109;54	.	ENSP00000324422:E110X	E	+	1	0	ZYX	142789582	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	5.334000	0.65923	0.558000	0.29135	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	1	0	0	10	120	0	34	1	9.999998e-01	6	493	0	34	2		0	0	0	0	0	2	1	9.967691e-01	10	116	0	34	2								-15.138320	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.940000	0.480000	1.000000	1.000000	0.871652	0.940000	1	6.800000e-01	1
ZYX	7791	broad.mit.edu	37	7	143079468	143079468	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079468G>A	ENST00000322764.5	+	3	681	c.336G>A	c.(334-336)gaG>gaA	p.E112E	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Silent_p.E56E|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin			17	Melanoma(164;0.205)				TGGAGGAGGAGATCTTCCCTT	0.706000																								0							SO:0001819	synonymous_variant			ENST00000322764.5	1	1	hg19	CCDS5883.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	1	0	0	7	119	0	32	1	9.999912e-01	38	520	0	32	2		0	0	0	0	0	2	1	9.804860e-01	7	117	0	32	2								-11.071900	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.690000	0.310000	1.000000	1.000000	0.710219	0.690000	0	4.700000e-01	1
ZYX	7791	broad.mit.edu	37	7	143085748	143085748	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143085748C>T	ENST00000322764.5	+	7	1656	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000449423.2_Silent_p.Y350Y|ZYX_ENST00000392910.2_Silent_p.Y280Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin			17	Melanoma(164;0.205)				AGGGCTGTTACACTGTGAGTC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000322764.5	1	1	hg19	CCDS5883.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	0	0	0	11	374	0	73	1	9.999325e-01	4	630	0	73	2		0	0	0	0	0	2	1	9.982664e-01	11	369	0	72	2								-3.531096	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.350000	0.180000	1.000000	0.340000	0.398025	0.350000	0	2.500000e-01	4.900000e-01
EPHA1	2041	broad.mit.edu	37	7	143088579	143088579	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143088579G>T	ENST00000275815.3	-	18	2988	c.2902C>A	c.(2902-2904)Ctt>Att	p.L968I	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1			51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)			ATACTGCAAAGAATGCGCTTC	0.612000																								0							SO:0001583	missense			ENST00000275815.3	1	1	hg19	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557575	0.65425	.	.	ENSG00000146904	ENST00000275815	T	0.57907	0.37	5.24	5.24	0.73138	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000084	T	0.60405	0.2266	L	0.49126	1.545	0.45025	D	0.99804	D	0.57571	0.98	P	0.55577	0.779	T	0.59648	-0.7415	10	0.48119	T	0.1	.	14.2692	0.66140	0.0729:0.0:0.9271:0.0	.	968	P21709	EPHA1_HUMAN	I	968	ENSP00000275815:L968I	ENSP00000275815:L968I	L	-	1	0	EPHA1	142798701	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.626000	0.46460	2.724000	0.93272	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	1	0	1	33	152	0	30	1	9.993966e-01	18	38	0	30	2		0	0	0	0	0	2	1	1	31	150	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
EPHA1	2041	broad.mit.edu	37	7	143091949	143091949	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143091949A>G	ENST00000275815.3	-	14	2390	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1			51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)			GAGTCAGGCCAAAGTCAGACA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000275815.3	1	1	hg19	CCDS5884.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	1	0	1	48	253	0	63	1	9.946991e-01	9	36	0	63	2		0	0	0	0	0	2	1	1	48	249	0	62	2								-19.999960	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
EPHA1	2041	broad.mit.edu	37	7	143096798	143096798	+	Missense_Mutation	SNP	G	G	A	rs140233341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143096798G>A	ENST00000275815.3	-	4	867	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1			51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)			CAGTGGCACCGTCCTACAGGC	0.657000																								0							SO:0001583	missense			ENST00000275815.3	1	1	hg19	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288654	0.59976	6.81E-4	1.16E-4	ENSG00000146904	ENST00000275815	D	0.97430	-4.38	5.22	2.17	0.27698	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.651298	0.14092	N	0.341931	D	0.96306	0.8795	M	0.78916	2.43	0.09310	N	1	D	0.61697	0.99	B	0.43623	0.425	D	0.90797	0.4691	10	0.87932	D	0	.	13.8135	0.63276	0.0:0.0:0.4721:0.5279	.	261	P21709	EPHA1_HUMAN	W	261	ENSP00000275815:R261W	ENSP00000275815:R261W	R	-	1	2	EPHA1	142806920	0.258000	0.24033	0.046000	0.18839	0.924000	0.55760	3.072000	0.50049	0.697000	0.31718	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	1	0	1	68	274	0	69	1	7.218962e-01	4	8	0	69	2		0	0	0	0	0	2	1	1	68	269	0	68	2								-3.522924	1	1	121404	15	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPHA1	2041	broad.mit.edu	37	7	143098600	143098600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143098600G>A	ENST00000275815.3	-	3	335	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1			51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)			AGATCCAATTGGAGCGAAGCC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000275815.3	1	1	hg19	CCDS5884.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	1	0	1	227	956	0	207	1	8.849154e-01	7	11	0	207	2		0	0	0	0	0	2	1	1	226	942	0	204	2								-3.347333	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAS2R60	338398	broad.mit.edu	37	7	143140633	143140633	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143140633G>A	ENST00000332690.1	+	1	88	c.88G>A	c.(88-90)Gta>Ata	p.V30I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60			31	Melanoma(164;0.172)				TTTACGCCTGGTAGCAATAGC	0.488000																								0							SO:0001583	missense			ENST00000332690.1	1	1	hg19	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989567	0.18966	.	.	ENSG00000185899	ENST00000332690	T	0.38722	1.12	5.68	0.57	0.17347	.	0.678333	0.13091	U	0.414543	T	0.24624	0.0597	L	0.28504	0.86	0.09310	N	0.999999	B	0.31413	0.322	B	0.37550	0.253	T	0.23797	-1.0178	10	0.08381	T	0.77	.	1.7473	0.02964	0.2404:0.1384:0.4789:0.1424	.	30	P59551	T2R60_HUMAN	I	30	ENSP00000327724:V30I	ENSP00000327724:V30I	V	+	1	0	TAS2R60	142850755	0.034000	0.19679	0.022000	0.16811	0.019000	0.09904	0.535000	0.23114	0.045000	0.15804	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1	1	0	0	55	731	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1	53	718	0	155	2								-11.124430	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.830000	0.630000	1.000000	1.000000	0.841554	0.830000	0	7.200000e-01	9.700000e-01
TAS2R41	259287	broad.mit.edu	37	7	143175206	143175206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175206G>A	ENST00000408916.1	+	1	241	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41			18	Melanoma(164;0.15)				TGGGGGTCTCGGCCGACAGTT	0.542000																								0							SO:0001583	missense			ENST00000408916.1	1	1	hg19	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103716	0.06967	.	.	ENSG00000221855	ENST00000408916	T	0.39406	1.08	5.76	-0.794	0.10918	.	1.412690	0.04793	N	0.432118	T	0.22513	0.0543	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16958	-1.0385	10	0.08381	T	0.77	.	6.6835	0.23132	0.1486:0.0:0.5337:0.3176	.	81	P59536	T2R41_HUMAN	S	81	ENSP00000386201:G81S	ENSP00000386201:G81S	G	+	1	0	TAS2R41	142885328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.585000	0.05794	-0.138000	0.11434	-2.610000	0.00160	GGC		TCGA-IB-7651-01A-11D-2154-08	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1	1	0	1	70	357	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	70	347	0	77	2								-3.089759	1	1	120954	1	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAS2R41	259287	broad.mit.edu	37	7	143175313	143175313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175313C>T	ENST00000408916.1	+	1	348	c.348C>T	c.(346-348)caC>caT	p.H116H	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41			18	Melanoma(164;0.15)				ACATCACACACTCCACCTTCC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000408916.1	1	1	hg19	CCDS43663.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1	0	0	0	20	275	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	9.999950e-01	20	269	0	55	2								-19.999960	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.820000	0.510000	1.000000	1.000000	0.817953	0.820000	0	6.500000e-01	1
OR2F2	135948	broad.mit.edu	37	7	143632519	143632519	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143632519A>G	ENST00000408955.2	+	1	261	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2			32	Melanoma(164;0.0903)				TTTCTCACCAACCTCTCCCTT	0.507000																								0							SO:0001583	missense			ENST00000408955.2	1	1	hg19	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927836	0.52759	.	.	ENSG00000221910	ENST00000408955	T	0.01963	4.53	3.49	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.04724	0.0128	M	0.66939	2.045	0.31028	N	0.717781	D	0.54772	0.968	P	0.49140	0.601	T	0.09164	-1.0687	10	0.66056	D	0.02	-26.1493	6.8745	0.24139	0.883:0.0:0.117:0.0	.	65	O95006	OR2F2_HUMAN	S	65	ENSP00000386222:N65S	ENSP00000386222:N65S	N	+	2	0	OR2F2	143263452	0.998000	0.40836	0.991000	0.47740	0.888000	0.51559	4.936000	0.63506	0.527000	0.28560	0.402000	0.26972	AAC		TCGA-IB-7651-01A-11D-2154-08	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1	1	0	1	214	1037	0	258		0	0	0	0	258	2		0	0	0	0	0	2	1	1	207	999	0	277	2								-20.000000	1	1	121412	1	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2F1	26211	broad.mit.edu	37	7	143657759	143657759	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143657759A>C	ENST00000392899.1	+	1	733	c.696A>C	c.(694-696)gaA>gaC	p.E232D	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)			34	Melanoma(164;0.0903)				AGTCCAGAGAAGGAAGAAAGA	0.493000																								0							SO:0001583	missense			ENST00000392899.1	1	1	hg19	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660959	0.29515	.	.	ENSG00000213215	ENST00000392899	T	0.00342	8.03	5.53	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.114861	0.39146	N	0.001454	T	0.00271	0.0008	L	0.52266	1.64	0.26943	N	0.966205	B	0.17465	0.022	B	0.25140	0.058	T	0.37911	-0.9685	10	0.62326	D	0.03	-8.8499	8.3184	0.32115	0.3484:0.0:0.6516:0.0	.	232	Q13607	OR2F1_HUMAN	D	232	ENSP00000376633:E232D	ENSP00000376633:E232D	E	+	3	2	OR2F1	143288692	0.210000	0.23517	0.478000	0.27316	0.534000	0.34807	0.034000	0.13776	0.115000	0.18071	-0.132000	0.14878	GAA		TCGA-IB-7651-01A-11D-2154-08	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1	1	0	1	90	332	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	90	326	0	85	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR6B1	135946	broad.mit.edu	37	7	143701395	143701395	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143701395C>T	ENST00000408922.2	+	1	374	c.306C>T	c.(304-306)taC>taT	p.Y102Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1			27	Melanoma(164;0.0783)				TACAACTGTACTTCTTCATTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000408922.2	1	1	hg19	CCDS43667.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1	1	0	0	116	518	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	114	505	0	149	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2A25	392138	broad.mit.edu	37	7	143772016	143772016	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143772016A>C	ENST00000408898.2	+	1	742	c.704A>C	c.(703-705)aAa>aCa	p.K235T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25			24	Melanoma(164;0.0783)				GGGTGCCAGAAAGCCTTCTCC	0.493000																								0							SO:0001583	missense			ENST00000408898.2	1	1	hg19	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763942	0.49574	.	.	ENSG00000221933	ENST00000408898	T	0.00375	7.71	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01695	0.0054	H	0.97023	3.925	0.43745	D	0.996242	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	9	0.87932	D	0	-6.4599	12.4196	0.55512	1.0:0.0:0.0:0.0	.	235	A4D2G3	O2A25_HUMAN	T	235	ENSP00000386167:K235T	ENSP00000386167:K235T	K	+	2	0	OR2A25	143402949	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	7.003000	0.76310	2.030000	0.59900	0.460000	0.39030	AAA		TCGA-IB-7651-01A-11D-2154-08	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1	1	0	1	107	456	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	103	449	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2A12	346525	broad.mit.edu	37	7	143792476	143792476	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143792476C>A	ENST00000408949.2	+	1	336	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12			25	Melanoma(164;0.0783)				AAGTCATCTCCTTTGCTCCTT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000408949.2	1	1	hg19	CCDS43670.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1	1	0	1	70	298	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	70	295	0	87	2								-3.196716	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2A2	442361	broad.mit.edu	37	7	143806742	143806742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143806742G>A	ENST00000408979.2	+	1	136	c.67G>A	c.(67-69)Gcg>Acg	p.A23T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2			22	Melanoma(164;0.0783)				TCCAGCACTGGCGATTCTCCT	0.512000																								0							SO:0001583	missense			ENST00000408979.2	1	1	hg19	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513049	0.27123	.	.	ENSG00000221989	ENST00000408979	T	0.00438	7.42	3.5	1.64	0.23874	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.19575	N	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.43196	-0.9406	9	0.66056	D	0.02	.	3.436	0.07446	0.2475:0.2198:0.5326:0.0	.	23	Q6IF42	OR2A2_HUMAN	T	23	ENSP00000386209:A23T	ENSP00000386209:A23T	A	+	1	0	OR2A2	143437675	0.000000	0.05858	0.050000	0.19076	0.033000	0.12548	-0.007000	0.12810	0.802000	0.34089	0.609000	0.83330	GCG		TCGA-IB-7651-01A-11D-2154-08	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1	1	0	1	81	462	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	80	451	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2A7	401427	broad.mit.edu	37	7	143956692	143956692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143956692C>T	ENST00000493325.1	-	1	123	c.30G>A	c.(28-30)gaG>gaA	p.E10E	OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7			6	Melanoma(164;0.14)				GTAGGAGGAACTCTGTGATGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000493325.1	1	1	hg19	CCDS55177.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1	1	0	0	81	1687	0	407	1	5.693107e-01	8	33	0	407	2		0	0	0	0	0	2	1	1	77	1646	0	417	2								-20.000000	1	1	121382	1	29	1	1	5	6	2.368656	1	0.170000	2.060000	3.805970e-01	0.720000	0.560000	0.880000	0.720000	0.729633	0.720000	0	6.400000e-01	8.100000e-01
ARHGEF5	7984	broad.mit.edu	37	7	144060720	144060720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144060720C>T	ENST00000056217.5	+	2	1132	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5			40	Melanoma(164;0.14)				TCAGGGAGGTCCAGAACAGGG	0.542000																								0							SO:0001583	missense			ENST00000056217.5	1	1	hg19	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	4.789	0.146640	0.09134	.	.	ENSG00000050327	ENST00000056217	T	0.71698	-0.59	4.05	2.07	0.26955	.	2.529770	0.02386	U	0.079234	T	0.57359	0.2048	N	0.24115	0.695	0.20764	N	0.999857	B	0.11235	0.004	B	0.14023	0.01	T	0.39881	-0.9592	9	.	.	.	3.0887	6.5054	0.22192	0.0:0.7041:0.1844:0.1116	.	320	Q12774	ARHG5_HUMAN	S	320	ENSP00000056217:P320S	.	P	+	1	0	ARHGEF5	143691653	0.000000	0.05858	0.001000	0.08648	0.282000	0.26991	-0.155000	0.10115	0.883000	0.36040	0.555000	0.69702	CCA		TCGA-IB-7651-01A-11D-2154-08	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	0	0	78	956	0	190		0	0	0	0	190	2		0	0	0	0	0	2	1	1	54	739	0	342	2								-15.598080	1	1	114612	1	25	1	1	5	6	2.368656	1	0.170000	2.060000	3.805970e-01	0.990000	0.940000	1.000000	1.000000	0.997075	0.990000	1	9.900000e-01	1
ARHGEF5	7984	broad.mit.edu	37	7	144061097	144061097	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144061097C>T	ENST00000056217.5	+	2	1509	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5			40	Melanoma(164;0.14)				AGGAACTGTCCCCCGCAGCTC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000056217.5	1	1	hg19	CCDS34771.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	0	0	16	261	0	59	0	3.889171e-03	0	2	0	59	2		0	0	0	0	0	2	1	9.998331e-01	12	231	0	110	2								-18.841740	1	1	0	0		1	1	5	6	2.368656	1	0.170000	2.060000	3.805970e-01	0.930000	0.550000	1.000000	1.000000	0.884830	0.930000	1	7.200000e-01	1
ARHGEF5	7984	broad.mit.edu	37	7	144068362	144068362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144068362G>A	ENST00000056217.5	+	6	3814	c.3640G>A	c.(3640-3642)Gag>Aag	p.E1214K	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E136K	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5			40	Melanoma(164;0.14)				TTCCAACCAGGAGCACCAATG	0.517000																								0							SO:0001583	missense			ENST00000056217.5	0	1	hg19	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156157	0.94686	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	T;T	0.66099	-0.19;-0.19	4.79	4.79	0.61399	Dbl homology (DH) domain (5);	0.379579	0.27402	N	0.019536	T	0.71779	0.3380	M	0.85630	2.765	0.48395	D	0.999646	B;P	0.47484	0.101;0.896	B;P	0.46510	0.216;0.519	T	0.78703	-0.2101	10	0.66056	D	0.02	-0.9488	15.6627	0.77199	0.0:0.0:1.0:0.0	.	69;1214	B3KQX6;Q12774	.;ARHG5_HUMAN	K	1214;69;136	ENSP00000056217:E1214K;ENSP00000418227:E136K	ENSP00000056217:E1214K	E	+	1	0	ARHGEF5	143699295	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.340000	0.79292	2.376000	0.81061	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	0	0	34	676	0	138	0	7.168972e-03	1	2	0	138	2		0	0	0	0	0	2	1	9.999930e-01	17	337	0	266	2								-20.000000	1	1	0	0		1	1	5	6	2.368656	1	0.170000	2.060000	3.805970e-01	0.760000	0.530000	1.000000	1.000000	0.770080	0.760000	0	6.300000e-01	9.000000e-01
NOBOX	135935	broad.mit.edu	37	7	144097306	144097306	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144097306C>T	ENST00000467773.1	-	5	943	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox			26	Melanoma(164;0.14)				TACCATGATGCGCTGGGGGGT	0.587000																								0							SO:0001583	missense			ENST00000467773.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.6	4.433226	0.83776	5.22E-4	1.21E-4	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.96459	-4.02;-4.02;-4.02	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.066452	0.53938	D	0.000057	D	0.98169	0.9395	M	0.83603	2.65	0.43930	D	0.996589	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	10	0.87932	D	0	-27.6213	17.2787	0.87122	0.0:1.0:0.0:0.0	.	315	O60393	NOBOX_HUMAN	H	315;315;230;104	ENSP00000419565:R315H;ENSP00000419457:R315H;ENSP00000223140:R230H	ENSP00000223140:R230H	R	-	2	0	NOBOX	143728239	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	5.277000	0.65586	2.671000	0.90904	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	1	0	1	67	299	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	62	289	0	67	2								-3.030017	1	1	120866	4	39	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPK1	27010	broad.mit.edu	37	7	144288631	144288631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144288631G>A	ENST00000360057.3	-	7	488	c.386C>T	c.(385-387)gCt>gTt	p.A129V	TPK1_ENST00000378099.3_Intron|TPK1_ENST00000549981.1_Missense_Mutation_p.A12V|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1			19				Thiamine(DB00152)	AAAACGCCCAGCAAGGCCTCC	0.408000													Ovarian(45;88 1034 2073 5829 28455)											0							SO:0001583	missense			ENST00000360057.3	1	1	hg19	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631484	0.46944	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	D;D	0.82711	-1.64;-1.64	5.78	0.307	0.15811	Thiamin pyrophosphokinase, catalytic domain (3);	0.349077	0.31134	N	0.008191	T	0.80177	0.4575	M	0.71581	2.175	0.09310	N	1	P	0.44478	0.836	B	0.34452	0.183	T	0.75365	-0.3343	10	0.87932	D	0	-2.8133	19.4398	0.94813	0.0:0.7357:0.2643:0.0	.	129	Q9H3S4	TPK1_HUMAN	V	129;12;129	ENSP00000353165:A129V;ENSP00000448655:A129V	ENSP00000353165:A129V	A	-	2	0	TPK1	143919564	0.033000	0.19621	0.018000	0.16275	0.912000	0.54170	0.557000	0.23454	0.048000	0.15891	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	1	0	1	69	308	0	68	1	9.975764e-01	7	36	0	68	2		0	0	0	0	0	2	1	1	69	302	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTNAP2	26047	broad.mit.edu	37	7	146471401	146471401	+	Missense_Mutation	SNP	G	G	A	rs137924687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146471401G>A	ENST00000361727.3	+	2	652	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2			188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		ACTCCCCCATGTGGCTTTCAG	0.438000										HNSCC(39;0.1)														0							SO:0001583	missense			ENST00000361727.3	1	1	hg19	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	7.220	0.597235	0.13875	0.002043	0.0	ENSG00000174469	ENST00000361727	D	0.97186	-4.28	5.74	1.69	0.24217	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	1.629630	0.04097	N	0.312269	D	0.91962	0.7454	N	0.16368	0.405	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.82900	-0.0228	10	0.36615	T	0.2	.	2.1205	0.03724	0.1681:0.2845:0.401:0.1463	.	46	Q9UHC6	CNTP2_HUMAN	M	46	ENSP00000354778:V46M	ENSP00000354778:V46M	V	+	1	0	CNTNAP2	146102334	0.000000	0.05858	0.001000	0.08648	0.376000	0.30014	0.138000	0.16016	0.029000	0.15352	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1	22	153	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	9.999990e-01	22	150	0	37	2								-20.000000	1	1	121412	13	42	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.890000	1.000000	1.000000	0.993683	0.990000	1	9.900000e-01	1
CNTNAP2	26047	broad.mit.edu	37	7	146536846	146536846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146536846G>A	ENST00000361727.3	+	3	768	c.252G>A	c.(250-252)tgG>tgA	p.W84*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2			188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		ATTATCAATGGCTTCAGGTTG	0.463000										HNSCC(39;0.1)														0							SO:0001587	stop_gained			ENST00000361727.3	0	1	hg19	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	43	10.023625	0.99319	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000354778:W84X	W	+	3	0	CNTNAP2	146167779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1	45	223	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	45	218	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
CNTNAP2	26047	broad.mit.edu	37	7	147092868	147092868	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147092868G>C	ENST00000361727.3	+	10	2182	c.1666G>C	c.(1666-1668)Gac>Cac	p.D556H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2			188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		TGCGATCATAGACAGGTAAAT	0.413000										HNSCC(39;0.1)														0							SO:0001583	missense			ENST00000361727.3	1	1	hg19	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406066	0.83230	.	.	ENSG00000174469	ENST00000361727	T	0.76578	-1.03	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.90338	0.6977	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	556	Q9UHC6	CNTP2_HUMAN	H	556	ENSP00000354778:D556H	ENSP00000354778:D556H	D	+	1	0	CNTNAP2	146723801	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1	76	428	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	76	421	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MICALL2	79778	broad.mit.edu	37	7	1477814	1477814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1477814G>T	ENST00000297508.7	-	12	2405	c.2230C>A	c.(2230-2232)Ctg>Atg	p.L744M	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2			19		Ovarian(82;0.0253)			ATGTCCTGCAGCTGCCTCTGT	0.731000																								0							SO:0001583	missense			ENST00000297508.7	0	1	hg19	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604029	0.28534	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.52983	0.64;0.64	3.95	-7.9	0.01169	Domain of unknown function DUF3585 (1);	1.590950	0.04597	N	0.397852	T	0.33498	0.0865	N	0.21097	0.63	0.32570	N	0.529911	B;P	0.44195	0.149;0.828	B;B	0.43445	0.058;0.42	T	0.51718	-0.8670	10	0.59425	D	0.04	.	9.0367	0.36291	0.0:0.1679:0.4919:0.3401	.	744;532	Q8IY33;D3YTD2	MILK2_HUMAN;.	M	532;744	ENSP00000385928:L532M;ENSP00000297508:L744M	ENSP00000297508:L744M	L	-	1	2	MICALL2	1444340	0.093000	0.21703	0.701000	0.30321	0.214000	0.24535	-0.414000	0.07114	-1.946000	0.01035	-0.519000	0.04390	CTG		TCGA-IB-7651-01A-11D-2154-08	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	1	0	0	9	31	0	8	1	9.999210e-01	21	58	0	8	2		0	0	0	0	0	2	1	9.955255e-01	9	30	0	7	2								-19.080940	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998597	0.990000	1	9.900000e-01	1
CNTNAP2	26047	broad.mit.edu	37	7	147844744	147844744	+	Missense_Mutation	SNP	C	C	T	rs141617212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147844744C>T	ENST00000361727.3	+	17	3232	c.2716C>T	c.(2716-2718)Cgc>Tgc	p.R906C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2			188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		GCAGCAGATCCGCAAGGCCCC	0.562000										HNSCC(39;0.1)														0							SO:0001583	missense			ENST00000361727.3	1	1	hg19	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566564	0.86439	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	T	0.78707	-1.2	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91397	0.5140	10	0.56958	D	0.05	.	17.9875	0.89159	0.0:1.0:0.0:0.0	.	906	Q9UHC6	CNTP2_HUMAN	C	906	ENSP00000354778:R906C	ENSP00000354778:R906C	R	+	1	0	CNTNAP2	147475677	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	2.369000	0.44231	2.583000	0.87209	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1	77	374	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	76	364	0	69	2								-2.948907	1	1	121412	5	40	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTNAP2	26047	broad.mit.edu	37	7	147914439	147914439	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147914439A>G	ENST00000361727.3	+	19	3586	c.3070A>G	c.(3070-3072)Aca>Gca	p.T1024A	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T83A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2			188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		GGCACCAGCAACAAATGCCAG	0.498000										HNSCC(39;0.1)														0							SO:0001583	missense			ENST00000361727.3	0	1	hg19	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	2.089	-0.408750	0.04799	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79554	-1.28;-1.28	5.25	-4.6	0.03390	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.943125	0.08941	N	0.871526	T	0.60405	0.2266	L	0.31578	0.945	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.08599	T	0.76	.	4.5312	0.12006	0.5566:0.103:0.2361:0.1043	.	1024	Q9UHC6	CNTP2_HUMAN	A	1024;83	ENSP00000354778:T1024A;ENSP00000440732:T83A	ENSP00000354778:T1024A	T	+	1	0	CNTNAP2	147545372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.025000	0.12413	-1.048000	0.03238	-0.366000	0.07423	ACA		TCGA-IB-7651-01A-11D-2154-08	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	0	0	0	12	706	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	9.988706e-01	12	677	0	115	2								-8.841754	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.190000	0.100000	0.310000	0.190000	0.202691	0.190000	0	1.400000e-01	2.600000e-01
C7orf33	202865	broad.mit.edu	37	7	148311388	148311388	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148311388C>T	ENST00000307003.2	+	2	820	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33			14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)		CATACCTAAACGTAAGCTCCG	0.458000																								0							SO:0001630	splice_region_variant			ENST00000307003.2	1	0	hg19	CCDS5890.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	1	0	0	30	350	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	30	347	0	85	2								-20.000000	1	1	121410	2	32	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.880000	0.610000	1.000000	1.000000	0.877158	0.880000	1	7.400000e-01	1
CUL1	8454	broad.mit.edu	37	7	148454093	148454093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148454093G>A	ENST00000325222.4	+	4	613	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CUL1_ENST00000602748.1_Missense_Mutation_p.D112N|CUL1_ENST00000409469.1_Missense_Mutation_p.D112N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1			40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)		AGATTTGATGGATGAGAGTGT	0.328000																								0							SO:0001583	missense			ENST00000325222.4	1	1	hg19	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139977	0.77775	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583	T;T	0.32515	1.45;1.45	4.74	4.74	0.60224	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39514	1.22	0.80722	D	1	P	0.35844	0.524	B	0.42112	0.376	T	0.08994	-1.0695	10	0.36615	T	0.2	-36.0131	18.0881	0.89464	0.0:0.0:1.0:0.0	.	112	Q13616	CUL1_HUMAN	N	112;112;70	ENSP00000387160:D112N;ENSP00000326804:D112N	ENSP00000326804:D112N	D	+	1	0	CUL1	148085026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.514000	0.98013	2.360000	0.80028	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	1	0	1	87	339	0	84	1	1	15	86	0	84	2		0	0	0	0	0	2	1	1	86	334	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EZH2	2146	broad.mit.edu	37	7	148507481	148507481	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148507481C>A	ENST00000460911.1	-	17	2046	c.1958G>T	c.(1957-1959)aGa>aTa	p.R653I	EZH2_ENST00000483967.1_Missense_Mutation_p.R644I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I|EZH2_ENST00000320356.2_Missense_Mutation_p.R658I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit			359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)		TTTCCCTCTTCTGTCAGCTTC	0.398000			Mis		DLBCL										Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0							SO:0001583	missense			ENST00000460911.1	1	1	hg19	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	33	5.285424	0.95517	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.81739	-1.53;-1.31;-1.31;-1.31;-1.53;-1.53;-1.31	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997	D	0.91099	0.4913	10	0.87932	D	0	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	644;602;653;614;658	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	I	602;658;653;614;602;602;644	ENSP00000417062:R602I;ENSP00000320147:R658I;ENSP00000419711:R653I;ENSP00000223193:R614I;ENSP00000443219:R602I;ENSP00000419050:R602I;ENSP00000419856:R644I	ENSP00000320147:R658I	R	-	2	0	EZH2	148138414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.574000	0.82434	2.550000	0.86006	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	1	0	1	40	207	0	60	1	9.663697e-01	8	23	0	60	2		0	0	0	0	0	2	1	1	40	203	0	60	2								-3.254138	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
EZH2	2146	broad.mit.edu	37	7	148511157	148511157	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148511157A>G	ENST00000460911.1	-	15	1818	c.1730T>C	c.(1729-1731)gTc>gCc	p.V577A	EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A|EZH2_ENST00000320356.2_Missense_Mutation_p.V582A|EZH2_ENST00000350995.2_Missense_Mutation_p.V538A			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit			359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)		ACACTCTCGGACAGCCAGGTA	0.547000			Mis		DLBCL										Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0							SO:0001583	missense			ENST00000460911.1	1	1	hg19	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	a	20.4	3.977289	0.74360	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.89746	-2.56;-1.29;-1.29;-1.29;-2.56;-2.56;-1.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	L	0.58302	1.8	0.80722	D	1	B;B;P;P;B	0.36944	0.19;0.295;0.574;0.566;0.3	B;B;B;B;B	0.40825	0.172;0.28;0.297;0.341;0.154	D	0.83610	0.0133	10	0.05721	T	0.95	.	15.3083	0.74011	1.0:0.0:0.0:0.0	.	568;526;577;538;582	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	A	526;582;577;538;526;526;568	ENSP00000417062:V526A;ENSP00000320147:V582A;ENSP00000419711:V577A;ENSP00000223193:V538A;ENSP00000443219:V526A;ENSP00000419050:V526A;ENSP00000419856:V568A	ENSP00000320147:V582A	V	-	2	0	EZH2	148142090	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.042000	0.93793	2.010000	0.58986	0.460000	0.39030	GTC		TCGA-IB-7651-01A-11D-2154-08	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	1	0	1	44	577	0	114	1	8.817391e-01	10	41	0	114	2		0	0	0	0	0	2	1	1	43	565	0	114	2								-10.240250	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.790000	0.590000	1.000000	1.000000	0.806447	0.790000	0	6.800000e-01	9.200000e-01
EZH2	2146	broad.mit.edu	37	7	148524275	148524275	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148524275C>A	ENST00000460911.1	-	7	797	c.709G>T	c.(709-711)Gca>Tca	p.A237S	EZH2_ENST00000536783.1_Missense_Mutation_p.A128S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S|EZH2_ENST00000320356.2_Missense_Mutation_p.A237S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit			359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)		AGTTCTTCTGCTGTGCCCTTA	0.368000			Mis		DLBCL										Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0							SO:0001583	missense			ENST00000460911.1	1	1	hg19	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.685787	0.29962	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.93712	-3.24;-3.27;-3.27;-3.27;-3.24;-3.24;-3.27;0.97	5.6	4.68	0.58851	SANT domain, DNA binding (1);	0.338513	0.34580	N	0.003859	D	0.83519	0.5272	N	0.04636	-0.2	0.31822	N	0.62585	B;B;B;B;B;B	0.11235	0.004;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.09377	0.004;0.002;0.002;0.001;0.002;0.001	T	0.79035	-0.1968	10	0.24483	T	0.36	.	13.5966	0.61994	0.2792:0.7208:0.0:0.0	.	237;228;228;237;198;237	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	S	228;237;237;198;228;228;228;128	ENSP00000417062:A228S;ENSP00000320147:A237S;ENSP00000419711:A237S;ENSP00000223193:A198S;ENSP00000443219:A228S;ENSP00000419050:A228S;ENSP00000419856:A228S;ENSP00000439305:A128S	ENSP00000320147:A237S	A	-	1	0	EZH2	148155208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.138000	0.31491	2.632000	0.89209	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	1	0	1	56	682	0	178	1	6.778209e-01	9	21	0	178	2		0	0	0	0	0	2	1	1	56	667	0	176	2								-12.355320	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.850000	0.650000	1.000000	1.000000	0.858175	0.850000	1	7.500000e-01	9.700000e-01
PDIA4	9601	broad.mit.edu	37	7	148702352	148702352	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148702352C>T	ENST00000286091.4	-	9	1635	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4			24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)		CCCACTCTCGCTGAGCCCCAG	0.582000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000286091.4	1	1	hg19	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531072	0.45073	.	.	ENSG00000155660	ENST00000286091	T	0.33438	1.41	5.24	5.24	0.73138	Thioredoxin-like fold (1);	0.207546	0.64402	D	0.000020	T	0.38161	0.1030	M	0.82323	2.585	0.42745	D	0.993757	B	0.21905	0.062	B	0.21360	0.034	T	0.24333	-1.0163	10	0.31617	T	0.26	.	13.7034	0.62622	0.193:0.807:0.0:0.0	.	468	P13667	PDIA4_HUMAN	N	468	ENSP00000286091:S468N	ENSP00000286091:S468N	S	-	2	0	PDIA4	148333285	0.983000	0.35010	0.995000	0.50966	0.972000	0.66771	3.840000	0.55843	2.445000	0.82738	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	1	0	1	174	680	0	176	1	1	536	1066	0	176	2		0	0	0	0	0	2	1	1	172	668	0	175	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDIA4	9601	broad.mit.edu	37	7	148718166	148718166	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148718166G>A	ENST00000286091.4	-	2	394	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4			24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)		CTTCCAAGTCGtcttcttcct	0.418000																								0							SO:0001819	synonymous_variant			ENST00000286091.4	1	1	hg19	CCDS5893.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	1	0	0	25	120	0	40	1	1	264	720	0	40	2		0	0	0	0	0	2	1	9.999999e-01	24	117	0	40	2								-15.798230	1	0	121408	2	38	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999685	0.990000	1	9.900000e-01	1
ZNF786	136051	broad.mit.edu	37	7	148768238	148768238	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768238G>A	ENST00000491431.1	-	4	1690	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	ZNF786_ENST00000451334.3_Silent_p.C505C|ZNF786_ENST00000316286.9_Silent_p.C456C	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786			26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)		AGCGCTTGTCGCACTTCAGGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000491431.1	1	1	hg19	CCDS47738.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	1	0	1	24	121	0	31	1	8.608751e-01	6	14	0	31	2		0	0	0	0	0	2	1	9.999998e-01	24	120	0	30	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999467	0.990000	1	9.900000e-01	1
ZNF786	136051	broad.mit.edu	37	7	148768644	148768644	+	Missense_Mutation	SNP	C	C	T	rs62507486	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768644C>T	ENST00000491431.1	-	4	1284	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	ZNF786_ENST00000451334.3_Missense_Mutation_p.R370H|ZNF786_ENST00000316286.9_Missense_Mutation_p.R321H	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786			26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)		GCGGCGCAGGCGGAAGCGCTT	0.652000																								0							SO:0001583	missense			ENST00000491431.1	1	0	hg19	CCDS47738.1	9	0.004120879120879121	0	0.0	6	0.016574585635359115	0	0.0	3	0.00395778364116095	C	13.09	2.134801	0.37728	0.002131	0.007929	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.08102	3.13;3.13;3.13	3.87	-1.24	0.09435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	L	0.42744	1.35	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38908	-0.9639	9	0.37606	T	0.19	-1.8392	3.0778	0.06252	0.3117:0.301:0.0:0.3873	rs62507486	407	Q8N393	ZN786_HUMAN	H	321;321;407;370	ENSP00000313516:R321H;ENSP00000417470:R407H;ENSP00000404984:R370H	ENSP00000313516:R321H	R	-	2	0	ZNF786	148399577	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.532000	0.02217	-0.534000	0.06315	-0.136000	0.14681	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	0	0	1	23	138	0	28	1	5.384653e-01	4	8	0	28	2		0	0	0	0	0	2	1	9.999996e-01	23	136	0	27	2								-3.365883	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.980000	1.000000	1.000000	0.997982	0.990000	1	9.900000e-01	1
ZNF425	155054	broad.mit.edu	37	7	148800888	148800888	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148800888C>A	ENST00000378061.2	-	4	2207	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425			50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)		CTGGAAGGGCCTCTCTCCACT	0.562000																								0							SO:0001583	missense			ENST00000378061.2	1	1	hg19	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071401	0.36566	.	.	ENSG00000204947	ENST00000378061	T	0.20332	2.08	3.44	-1.11	0.09840	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	M	0.84773	2.715	0.24828	N	0.992545	D	0.67145	0.996	P	0.62649	0.905	T	0.26467	-1.0102	9	0.87932	D	0	.	7.8698	0.29558	0.0:0.5338:0.0:0.4662	.	692	Q6IV72	ZN425_HUMAN	M	692	ENSP00000367300:R692M	ENSP00000367300:R692M	R	-	2	0	ZNF425	148431821	0.000000	0.05858	0.065000	0.19835	0.982000	0.71751	-2.517000	0.00954	-0.170000	0.10816	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	1	0	0	45	474	0	96	1	3.507724e-01	3	11	0	96	2		0	0	0	0	0	2	1	1	43	462	0	95	2								-3.318794	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.970000	0.720000	1.000000	1.000000	0.938277	0.970000	1	8.400000e-01	1
ZNF425	155054	broad.mit.edu	37	7	148801223	148801223	+	Missense_Mutation	SNP	C	C	A	rs143783393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801223C>A	ENST00000378061.2	-	4	1872	c.1740G>T	c.(1738-1740)aaG>aaT	p.K580N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425			50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)		ACGCGAAGGGCTTCTCGTCCC	0.597000																								0							SO:0001583	missense			ENST00000378061.2	1	1	hg19	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567119	0.45694	.	.	ENSG00000204947	ENST00000378061	T	0.08546	3.08	3.42	2.51	0.30379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19967	0.0480	M	0.81112	2.525	0.27794	N	0.94271	D	0.59357	0.985	P	0.54590	0.756	T	0.07158	-1.0787	9	0.87932	D	0	.	5.9994	0.19511	0.0:0.7513:0.0:0.2486	.	580	Q6IV72	ZN425_HUMAN	N	580	ENSP00000367300:K580N	ENSP00000367300:K580N	K	-	3	2	ZNF425	148432156	0.097000	0.21791	0.054000	0.19295	0.376000	0.30014	0.637000	0.24659	0.741000	0.32674	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	1	0	1	63	299	0	76	1	7.285389e-01	4	10	0	76	2		0	0	0	0	0	2	1	1	63	293	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF425	155054	broad.mit.edu	37	7	148801589	148801589	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801589G>A	ENST00000378061.2	-	4	1506	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	p.R458R(1)		50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)		GCTGGTGGGCGCGCATGGCGT	0.662000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000378061.2	1	1	hg19	CCDS34773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	1	0	1	57	291	1	50	1	3.916319e-01	4	4	1	50	2		0	0	0	0	0	2	1	9.999887e-01	56	283	1	48	22								-20.000000	1	0	121374	1	20	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF425	155054	broad.mit.edu	37	7	148801594	148801594	+	Missense_Mutation	SNP	T	T	C	rs148457097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801594T>C	ENST00000378061.2	-	4	1501	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425			50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)		TGGGCGCGCATGGCGTTCCTC	0.672000																								0							SO:0001583	missense			ENST00000378061.2	1	1	hg19	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695657	0.68386	0.0	1.16E-4	ENSG00000204947	ENST00000378061	T	0.17213	2.29	3.17	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	L	0.31664	0.95	0.09310	N	1	B	0.33694	0.421	B	0.31191	0.125	T	0.27673	-1.0067	9	0.87932	D	0	.	5.7292	0.18030	0.1752:0.0:0.5343:0.2906	.	457	Q6IV72	ZN425_HUMAN	V	457	ENSP00000367300:M457V	ENSP00000367300:M457V	M	-	1	0	ZNF425	148432527	0.001000	0.12720	0.007000	0.13788	0.913000	0.54294	0.052000	0.14163	-0.012000	0.14223	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	1	0	1	67	291	0	52	0	4.622932e-01	0	8	0	52	2		0	0	0	0	0	2	1	1	66	284	0	50	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF425	155054	broad.mit.edu	37	7	148801988	148801988	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801988G>A	ENST00000378061.2	-	4	1107	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425			50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)		GCTTCTCTCCGCTGTGCAGCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000378061.2	1	1	hg19	CCDS34773.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	0	0	1	43	242	0	51	1	2.322530e-01	4	2	0	51	2		0	0	0	0	0	2	1	1	43	239	0	51	2								-3.084024	1	1	121406	1	33	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999951	0.990000	1	9.900000e-01	1
DGKB	1607	broad.mit.edu	37	7	14880885	14880885	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14880885T>G	ENST00000403951.2	-	2	423	c.4A>C	c.(4-6)Aca>Cca	p.T2P	DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P|DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000399322.3_Missense_Mutation_p.T2P			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa			72					TCCTGGTTTGTCATGGTGGTG	0.408000																								0							SO:0001583	missense			ENST00000403951.2	1	1	hg19	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210761	0.58343	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T	0.79940	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.32	5.43	5.43	0.79202	.	0.123212	0.53938	D	0.000053	T	0.72463	0.3463	N	0.22421	0.69	0.36102	D	0.844197	P;B;P;P	0.51537	0.91;0.118;0.946;0.91	B;B;B;B	0.43680	0.245;0.095;0.427;0.245	T	0.81521	-0.0895	10	0.72032	D	0.01	.	14.5048	0.67746	0.0:0.0:0.0:1.0	.	2;2;2;2	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	P	2	ENSP00000385780:T2P;ENSP00000382260:T2P;ENSP00000258767:T2P;ENSP00000384909:T2P;ENSP00000385031:T2P;ENSP00000388451:T2P;ENSP00000386066:T2P	ENSP00000258767:T2P	T	-	1	0	DGKB	14847410	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.211000	0.65219	2.078000	0.62432	0.381000	0.24937	ACA		TCGA-IB-7651-01A-11D-2154-08	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	1	0	1	21	100	0	27	0	0	0	1	0	27	2		0	0	0	0	0	2	1	9.999984e-01	21	97	0	27	2								-13.807960	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
ZNF398	57541	broad.mit.edu	37	7	148851044	148851044	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851044A>C	ENST00000475153.1	+	2	299	c.32A>C	c.(31-33)gAa>gCa	p.E11A	ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398			25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)		CAGACATCTGAATGGGACTCC	0.498000																								0							SO:0001583	missense			ENST00000475153.1	1	1	hg19	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953521	0.73902	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.09911	3.13;2.93	5.1	5.1	0.69264	.	0.000000	0.48767	D	0.000172	T	0.18593	0.0446	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.956	T	0.01993	-1.1233	10	0.87932	D	0	-15.7009	11.2938	0.49267	1.0:0.0:0.0:0.0	.	16;11	B4DXA9;Q8TD17	.;ZN398_HUMAN	A	11;16	ENSP00000420418:E11A;ENSP00000439340:E16A	ENSP00000420418:E11A	E	+	2	0	ZNF398	148481977	0.991000	0.36638	1.000000	0.80357	0.924000	0.55760	2.545000	0.45769	1.916000	0.55485	0.460000	0.39030	GAA		TCGA-IB-7651-01A-11D-2154-08	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2	1	0	1	75	379	0	93	1	5.667536e-01	2	9	0	93	2		0	0	0	0	0	2	1	1	75	371	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF398	57541	broad.mit.edu	37	7	148851380	148851380	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851380G>T	ENST00000475153.1	+	2	635	c.368G>T	c.(367-369)aGg>aTg	p.R123M	ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398			25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)		CTGCGCAACAGGAACTTCTGG	0.537000																								0							SO:0001583	missense			ENST00000475153.1	1	1	hg19	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000785	0.74818	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10860	2.83;2.84	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000058	T	0.30916	0.0780	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	T	0.00995	-1.1487	10	0.54805	T	0.06	-22.2834	14.2249	0.65853	0.0:0.0:1.0:0.0	.	128;123	B4DXA9;Q8TD17	.;ZN398_HUMAN	M	123;128	ENSP00000420418:R123M;ENSP00000439340:R128M	ENSP00000420418:R123M	R	+	2	0	ZNF398	148482313	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.382000	0.44345	2.420000	0.82092	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2	1	0	1	74	406	0	101	1	9.411273e-01	12	16	0	101	2		0	0	0	0	0	2	1	1	74	398	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF282	8427	broad.mit.edu	37	7	148921240	148921240	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921240G>A	ENST00000262085.3	+	8	1622	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282			17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)		GGGCTGCGGCGGAGCCTCCTC	0.781000																								0							SO:0001583	missense			ENST00000262085.3	0	1	hg19	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894851	0.52121	.	.	ENSG00000170265	ENST00000262085	T	0.06768	3.26	3.82	2.01	0.26516	.	0.185108	0.26439	N	0.024368	T	0.05777	0.0151	L	0.32530	0.975	0.40470	D	0.980339	B	0.14438	0.01	B	0.04013	0.001	T	0.37291	-0.9712	10	0.29301	T	0.29	-21.4411	5.9703	0.19349	0.2448:0.0:0.7552:0.0	.	506	Q9UDV7	ZN282_HUMAN	Q	506	ENSP00000262085:R506Q	ENSP00000262085:R506Q	R	+	2	0	ZNF282	148552173	0.000000	0.05858	0.059000	0.19551	0.327000	0.28475	0.042000	0.13949	0.303000	0.22785	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	1	0	0	22	44	0	11	1	7.975606e-01	2	6	0	11	2		0	0	0	0	0	2	1	9.999996e-01	22	41	0	11	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
ZNF282	8427	broad.mit.edu	37	7	148921304	148921304	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921304C>T	ENST00000262085.3	+	8	1686	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282			17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)		GCAAGAGCTTCGGCGTGCGCA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000262085.3	1	1	hg19	CCDS5895.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	1	0	0	40	155	0	39	1	9.975540e-01	13	26	0	39	2		0	0	0	0	0	2	1	1	39	153	0	38	2								-20.000000	1	0	121364	2	29	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZNF212	7988	broad.mit.edu	37	7	148951066	148951066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148951066G>T	ENST00000335870.2	+	5	1176	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212			9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)		TGAGGAGCCAGAGGAGAGCCT	0.572000																								0							SO:0001587	stop_gained			ENST00000335870.2	0	1	hg19	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011410	0.54468	.	.	ENSG00000170260	ENST00000335870	.	.	.	4.99	3.18	0.36537	.	0.811066	0.10930	N	0.618502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.6687	9.7827	0.40658	0.1718:0.0:0.8282:0.0	.	.	.	.	X	350	.	ENSP00000338572:E350X	E	+	1	0	ZNF212	148581999	0.733000	0.28132	0.314000	0.25224	0.078000	0.17371	3.391000	0.52530	0.618000	0.30179	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	1	0	0	34	117	0	39	1	9.996366e-01	12	33	0	39	2		0	0	0	0	0	2	1	1	29	113	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ZNF777	27153	broad.mit.edu	37	7	149128930	149128930	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149128930G>A	ENST00000247930.4	-	6	2756	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777			26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)		AGCACTTGGCGCAGTGCGTGC	0.721000																								0							SO:0001819	synonymous_variant			ENST00000247930.4	1	1	hg19	CCDS43675.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	1	0	0	25	156	0	26	0	1.003451e-01	1	3	0	26	2		0	0	0	0	0	2	1	9.999999e-01	25	152	0	25	2								-20.000000	1	1	120952	1	22	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.980000	1.000000	1.000000	0.998018	0.990000	1	9.900000e-01	1
ZNF777	27153	broad.mit.edu	37	7	149129742	149129742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149129742G>A	ENST00000247930.4	-	6	1944	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777			26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)		CGCTCGCCGCGCCGGTTCCGC	0.657000																								0							SO:0001583	missense			ENST00000247930.4	1	1	hg19	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289908	0.59976	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05925	3.37	4.59	3.66	0.41972	.	0.143056	0.29293	N	0.012565	T	0.08935	0.0221	L	0.42581	1.335	0.43540	D	0.995839	D	0.60160	0.987	P	0.46825	0.528	T	0.04320	-1.0960	10	0.87932	D	0	-27.4626	11.8466	0.52387	0.0:0.0:0.8254:0.1746	.	541	Q9ULD5-2	.	C	541;284	ENSP00000247930:R541C	ENSP00000247930:R541C	R	-	1	0	ZNF777	148760675	0.020000	0.18652	0.986000	0.45419	0.987000	0.75469	1.327000	0.33746	2.376000	0.81061	0.460000	0.39030	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	1	0	1	33	139	0	20	1	8.582450e-01	2	15	0	20	2		0	0	0	0	0	2	1	1	33	139	0	20	2								-20.000000	1	0	121208	1	27	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
KRBA1	84626	broad.mit.edu	37	7	149419587	149419587	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149419587C>T	ENST00000485033.2	+	5	541	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.H181Y|KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1			27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CCCTCCCACCCATAGCCCCAG	0.637000																								0							SO:0001583	missense			ENST00000485033.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101931	0.01828	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.30182	1.54;1.54;1.54	4.25	-0.873	0.10635	.	1.625990	0.03280	N	0.186087	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	10	0.18276	T	0.48	6.4057	3.6635	0.08247	0.1675:0.2221:0.0:0.6104	.	181	A5PL33	KRBA1_HUMAN	Y	181	ENSP00000255992:H181Y;ENSP00000317165:H181Y;ENSP00000420112:H181Y	ENSP00000255992:H181Y	H	+	1	0	KRBA1	149050520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	-0.335000	0.08451	-1.099000	0.02127	CAT		TCGA-IB-7651-01A-11D-2154-08	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	0	0	0	13	53	0	14	1	3.584750e-01	2	4	0	14	2		0	0	0	0	0	2	1	9.996538e-01	13	51	0	14	2								-11.299830	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.970000	1.000000	1.000000	0.997103	0.990000	1	9.900000e-01	1
ZNF467	168544	broad.mit.edu	37	7	149462850	149462850	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149462850C>T	ENST00000302017.3	-	5	1154	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467			13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		TGCCGCACTCCGCGCACGGGT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000302017.3	1	1	hg19	CCDS5899.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	1	0	1	13	99	0	25	0	1.206142e-01	1	4	0	25	2		0	0	0	0	0	2	1	9.996203e-01	13	98	0	24	2								-19.894730	1	1	121222	1	18	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.720000	1.000000	1.000000	0.971742	0.990000	1	9.400000e-01	1
ZNF467	168544	broad.mit.edu	37	7	149467528	149467528	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149467528C>T	ENST00000302017.3	-	3	565		c.e3+1		ZNF467_ENST00000484747.1_Splice_Site	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467			13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CTGTTACCTACCTGAGCACAC	0.612000																								0							SO:0001630	splice_region_variant			ENST00000302017.3	1	1	hg19	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612050	0.28712	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4988	0.61442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF467	149098461	1.000000	0.71417	0.992000	0.48379	0.307000	0.27823	3.805000	0.55575	2.023000	0.59567	0.556000	0.70494	.		TCGA-IB-7651-01A-11D-2154-08	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	1	0	1	34	199	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	34	194	0	54	2								-20.000000	1	1	121410	1	28	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999695	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149477527	149477527	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149477527A>G	ENST00000378016.2	+	0	1598							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CGCCAGCGCTATGTACCCGGT	0.647000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	15	115	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	9.998794e-01	14	112	0	26	2								-19.999750	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.750000	1.000000	1.000000	0.976532	0.990000	1	9.600000e-01	1
SSPO	23145	broad.mit.edu	37	7	149479934	149479934	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149479934G>T	ENST00000378016.2	+	0	1900							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CCCTGTTCCAGGAGCTGTGCT	0.607000																								0											ENST00000378016.2	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		1	0	0	8	161	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.893969e-01	7	160	0	33	2								-3.175044	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.540000	0.260000	0.950000	1.000000	0.571947	0.540000	0	3.800000e-01	7.500000e-01
SSPO	23145	broad.mit.edu	37	7	149481008	149481008	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149481008C>T	ENST00000378016.2	+	0	2490							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		GTCCTGGTGGCCAGGAGTACC	0.622000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	19	117	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	9.999929e-01	18	115	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.920000	1.000000	1.000000	0.995561	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149482714	149482714	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149482714G>T	ENST00000378016.2	+	0	3130							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		GGTGCGAGAGGCCAGTGGCCT	0.637000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	10	54	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.974536e-01	10	53	0	13	2								-18.759480	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.790000	1.000000	1.000000	0.985828	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149489462	149489462	+	RNA	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149489462T>C	ENST00000378016.2	+	0	5615							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CCCTGCCTGGTGGACGGTGCC	0.701000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	11	47	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.987590e-01	11	47	0	13	2								-19.981350	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.900000	1.000000	1.000000	0.994185	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149490411	149490411	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149490411C>T	ENST00000378016.2	+	0	5887							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CCAGACGGAGCCCTGTGAGGG	0.647000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	17	96	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999768e-01	17	95	0	25	2								-3.366732	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.930000	1.000000	1.000000	0.996032	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149499027	149499027	+	RNA	SNP	G	G	A	rs147684856	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149499027G>A	ENST00000378016.2	+	0	7479							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		AGGATGGCTCGGACGAGGATG	0.697000																								0											ENST00000378016.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	20	132	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.999968e-01	20	131	0	35	2								-3.221883	1	1	120544	37	44	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.900000	1.000000	1.000000	0.994224	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149509003	149509003	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149509003G>A	ENST00000378016.2	+	0	9549							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CCCTAGGTGAGCCCACGTGGT	0.672000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	32	209	0	39		0	0	0	0	39	2	0	0	0	1	0	0	2	1	1	32	205	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.998822	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149514988	149514988	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149514988G>T	ENST00000378016.2	+	0	11378							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		TCTTCCCCCAGCTCGTGTGCA	0.662000																								0											ENST00000378016.2	1	0	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		1	0	1	45	171	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	43	165	0	42	2								-20.000000	1	0	120880	1	24	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SSPO	23145	broad.mit.edu	37	7	149520498	149520498	+	RNA	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149520498T>G	ENST00000378016.2	+	0	13316							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		TGTGCTGGGCTCTGTGCCACA	0.662000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	73	342	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	71	333	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF862	643641	broad.mit.edu	37	7	149545235	149545235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149545235G>A	ENST00000223210.4	+	4	898	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862			34					GCCCGGTTCCGGAGCATCAGA	0.592000																								0							SO:0001583	missense			ENST00000223210.4	1	1	hg19	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	4.581	0.107865	0.08780	.	.	ENSG00000106479	ENST00000223210	T	0.01043	5.41	5.39	-3.5	0.04710	Zinc finger, TTF-type (1);	1.396590	0.04656	N	0.408112	T	0.00552	0.0018	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48581	-0.9023	10	0.08381	T	0.77	-2.0822	11.3389	0.49520	0.4317:0.0:0.5683:0.0	.	218	O60290	ZN862_HUMAN	Q	218	ENSP00000223210:R218Q	ENSP00000223210:R218Q	R	+	2	0	ZNF862	149176168	0.000000	0.05858	0.005000	0.12908	0.812000	0.45895	-0.803000	0.04540	-0.636000	0.05524	-0.150000	0.13652	CGG		TCGA-IB-7651-01A-11D-2154-08	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	0	0	1	44	215	1	44	0	6.517180e-01	2	17	1	44	3		0	0	0	0	0	2	1	9.998471e-01	44	210	1	44	18								-2.976953	1	1	120880	7	37	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
ZNF862	643641	broad.mit.edu	37	7	149559064	149559064	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559064G>T	ENST00000223210.4	+	7	3060	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862			34					GTTTGACGCAGACCGACCCCC	0.547000																								0							SO:0001583	missense			ENST00000223210.4	1	1	hg19	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280198	0.10458	.	.	ENSG00000106479	ENST00000223210	T	0.01126	5.3	5.39	3.55	0.40652	.	0.225743	0.30911	N	0.008632	T	0.01061	0.0035	L	0.27053	0.805	0.29742	N	0.837006	P	0.44877	0.845	B	0.39840	0.311	T	0.48703	-0.9012	10	0.51188	T	0.08	-18.637	7.7891	0.29110	0.0885:0.1623:0.7492:0.0	.	939	O60290	ZN862_HUMAN	Y	939	ENSP00000223210:D939Y	ENSP00000223210:D939Y	D	+	1	0	ZNF862	149189997	0.099000	0.21834	0.780000	0.31762	0.275000	0.26752	1.241000	0.32743	1.255000	0.44051	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	1	0	1	100	609	0	194	1	4.254333e-01	2	8	0	194	2		0	0	0	0	0	2	1	1	99	594	0	192	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF862	643641	broad.mit.edu	37	7	149559262	149559262	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559262T>C	ENST00000223210.4	+	7	3258	c.3013T>C	c.(3013-3015)Ttc>Ctc	p.F1005L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862			34					GCACCTCCCGTTCTCCATGCT	0.602000																								0							SO:0001583	missense			ENST00000223210.4	1	1	hg19	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723757	0.30593	.	.	ENSG00000106479	ENST00000223210	T	0.01106	5.33	5.39	4.24	0.50183	HAT dimerisation (1);	0.109105	0.41396	N	0.000896	T	0.01905	0.0060	M	0.62723	1.935	0.29944	N	0.820842	B	0.20887	0.049	B	0.26693	0.072	T	0.10776	-1.0615	10	0.48119	T	0.1	.	8.0079	0.30336	0.0:0.0917:0.0:0.9083	.	1005	O60290	ZN862_HUMAN	L	1005	ENSP00000223210:F1005L	ENSP00000223210:F1005L	F	+	1	0	ZNF862	149190195	0.976000	0.34144	0.770000	0.31555	0.858000	0.48976	2.150000	0.42254	0.897000	0.36392	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	1	0	1	42	241	0	69	1	7.095003e-01	4	12	0	69	2		0	0	0	0	0	2	1	1	41	233	0	68	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
ZNF862	643641	broad.mit.edu	37	7	149559356	149559356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559356C>T	ENST00000223210.4	+	7	3352	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862			34					CCCATCTCCACCTCTTGCTGT	0.587000																								0							SO:0001583	missense			ENST00000223210.4	1	1	hg19	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751826	0.49362	.	.	ENSG00000106479	ENST00000223210	T	0.24151	1.87	5.39	3.51	0.40186	HAT dimerisation (1);Ribonuclease H-like (1);	0.119463	0.37669	N	0.001994	T	0.42017	0.1184	M	0.70275	2.135	0.27088	N	0.962921	D	0.63046	0.992	P	0.60012	0.867	T	0.27331	-1.0077	10	0.56958	D	0.05	-24.2793	8.668	0.34132	0.1725:0.6614:0.1662:0.0	.	1036	O60290	ZN862_HUMAN	I	1036	ENSP00000223210:T1036I	ENSP00000223210:T1036I	T	+	2	0	ZNF862	149190289	0.982000	0.34865	0.996000	0.52242	0.954000	0.61252	2.076000	0.41548	0.597000	0.29811	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	1	0	1	32	130	0	34	1	4.966992e-01	3	5	0	34	2		0	0	0	0	0	2	1	1	31	128	0	34	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
REPIN1	29803	broad.mit.edu	37	7	150068918	150068918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068918G>T	ENST00000425389.2	+	1	666	c.588G>T	c.(586-588)aaG>aaT	p.K196N	REPIN1_ENST00000397281.2_Missense_Mutation_p.K196N|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1			14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)		TTGCCCACAAGCGGGTGCACG	0.746000																								0							SO:0001583	missense			ENST00000425389.2	0	1	hg19	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885139	0.51908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.55	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57198	0.2037	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.969;0.998	T	0.57522	-0.7797	9	0.72032	D	0.01	-15.9773	5.0126	0.14321	0.1943:0.1741:0.6316:0.0	.	253;196	C9J3L7;Q9BWE0	.;REPI1_HUMAN	N	196;196;196;253;255;256;196	ENSP00000445016:K196N;ENSP00000380451:K196N;ENSP00000407714:K196N;ENSP00000417291:K253N;ENSP00000419789:K255N;ENSP00000419872:K256N;ENSP00000388287:K196N	ENSP00000380451:K196N	K	+	3	2	REPIN1	149699851	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.987000	0.40687	1.131000	0.42111	0.462000	0.41574	AAG		TCGA-IB-7651-01A-11D-2154-08	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	1	0	0	7	103	0	12	1	8.819496e-01	3	56	0	12	2		0	0	0	0	0	2	1	9.811330e-01	7	102	0	12	2								-11.878180	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.720000	0.330000	1.000000	1.000000	0.732500	0.720000	0	5.000000e-01	1
REPIN1	29803	broad.mit.edu	37	7	150068940	150068940	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068940C>A	ENST00000425389.2	+	1	688	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	REPIN1_ENST00000397281.2_Missense_Mutation_p.L204M|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1			14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)		AGCTGAGGCCCTGGAGGAGGC	0.741000																								0							SO:0001583	missense			ENST00000425389.2	1	1	hg19	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919909	0.33908	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.08720	3.09;3.09;3.09;3.06;3.4;3.2;3.09	5.08	2.25	0.28309	Zinc finger, C2H2 (1);	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.09310	N	0.999994	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.23691	-1.0181	9	0.87932	D	0	-10.3479	5.9616	0.19303	0.0:0.6793:0.0:0.3207	.	261;204	C9J3L7;Q9BWE0	.;REPI1_HUMAN	M	204;204;204;261;263;264;204	ENSP00000445016:L204M;ENSP00000380451:L204M;ENSP00000407714:L204M;ENSP00000417291:L261M;ENSP00000419789:L263M;ENSP00000419872:L264M;ENSP00000388287:L204M	ENSP00000380451:L204M	L	+	1	2	REPIN1	149699873	.	.	0.962000	0.40283	0.697000	0.40408	.	.	0.521000	0.28445	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	1	0	0	21	78	0	16	1	9.971646e-01	11	28	0	16	2		0	0	0	0	0	2	1	9.999988e-01	21	76	0	16	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999784	0.990000	1	9.900000e-01	1
REPIN1	29803	broad.mit.edu	37	7	150069954	150069954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150069954G>A	ENST00000425389.2	+	1	1702	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	REPIN1_ENST00000397281.2_Missense_Mutation_p.A542T|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1			14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)		CCGGGACGGCGCCTTCTGCTG	0.657000																								0							SO:0001583	missense			ENST00000425389.2	1	1	hg19	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373731	0.42105	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.17	3.24	0.37175	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18509	0.0444	N	0.13352	0.335	0.80722	D	1	B;B	0.22146	0.03;0.065	B;B	0.04013	0.001;0.001	T	0.10109	-1.0644	9	0.87932	D	0	-14.6073	11.6665	0.51376	0.0:0.1955:0.8045:0.0	.	599;542	C9J3L7;Q9BWE0	.;REPI1_HUMAN	T	542;542;542;599;542	ENSP00000445016:A542T;ENSP00000380451:A542T;ENSP00000407714:A542T;ENSP00000417291:A599T;ENSP00000388287:A542T	ENSP00000380451:A542T	A	+	1	0	REPIN1	149700887	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	0.903000	0.28475	2.171000	0.68590	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	1	0	1	48	219	0	51	1	1	48	112	0	51	2		0	0	0	0	0	2	1	1	48	215	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ZNF775	285971	broad.mit.edu	37	7	150094568	150094568	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094568C>T	ENST00000329630.5	+	3	1106	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775			11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)		ACCACACAGGCGAGCGCCCGC	0.726000																								0							SO:0001819	synonymous_variant			ENST00000329630.5	0	1	hg19	CCDS43678.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	1	0	0	16	104	0	19	1	2.039184e-02	2	0	0	19	2		0	0	0	0	0	2	1	9.999514e-01	15	104	0	18	2								-20.000000	1	0	117446	6	33	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.850000	1.000000	1.000000	0.990662	0.990000	1	9.900000e-01	1
ZNF775	285971	broad.mit.edu	37	7	150094613	150094613	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094613G>T	ENST00000329630.5	+	3	1151	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775			11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)		GCTTCCGCCAGAAGCAGCACC	0.741000																								0							SO:0001583	missense			ENST00000329630.5	0	1	hg19	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306995	0.60305	.	.	ENSG00000196456	ENST00000329630	T	0.15487	2.42	3.78	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	N	0.21142	0.635	0.29595	N	0.848147	P	0.47604	0.898	P	0.57204	0.815	T	0.03566	-1.1024	8	.	.	.	.	7.0796	0.25223	0.1239:0.0:0.8761:0.0	.	348	Q96BV0	ZN775_HUMAN	H	348	ENSP00000330838:Q348H	.	Q	+	3	2	ZNF775	149725546	0.000000	0.05858	1.000000	0.80357	0.865000	0.49528	0.056000	0.14256	1.931000	0.55961	0.313000	0.20887	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	1	0	0	8	42	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.914174e-01	8	42	0	10	2								-19.588080	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.730000	1.000000	1.000000	0.978631	0.990000	1	9.900000e-01	1
GIMAP8	155038	broad.mit.edu	37	7	150171653	150171653	+	Silent	SNP	G	G	A	rs149276246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150171653G>A	ENST00000307271.3	+	4	1810	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	p.A412A(1)		62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)		AAAGGCAGGCGGACGAGCTCC	0.413000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000307271.3	1	1	hg19	CCDS34777.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	1	0	1	83	446	0	94	0	9.790204e-01	0	35	0	94	2		0	0	0	0	0	2	1	1	81	439	0	92	2								-2.776443	1	1	121406	53	50	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIMAP8	155038	broad.mit.edu	37	7	150174701	150174701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150174701G>A	ENST00000307271.3	+	5	2405	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8			62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)		CCAGGCCCAGGAAACCCAGGT	0.453000																								0							SO:0001583	missense			ENST00000307271.3	1	1	hg19	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904574	0.72868	.	.	ENSG00000171115	ENST00000307271	T	0.05996	3.36	4.44	3.51	0.40186	AIG1 (1);	0.000000	0.44097	D	0.000486	T	0.15435	0.0372	L	0.47016	1.485	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.00888	-1.1526	10	0.72032	D	0.01	.	10.3555	0.43960	0.0:0.1985:0.8015:0.0	.	611	Q8ND71	GIMA8_HUMAN	K	611	ENSP00000305107:E611K	ENSP00000305107:E611K	E	+	1	0	GIMAP8	149805634	0.002000	0.14202	0.024000	0.17045	0.006000	0.05464	0.487000	0.22356	2.321000	0.78463	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	1	0	1	101	503	0	137	0	9.907128e-01	0	38	0	137	2		0	0	0	0	0	2	1	1	99	488	0	135	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIMAP4	55303	broad.mit.edu	37	7	150270098	150270098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150270098G>A	ENST00000255945.2	+	3	1115	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4			14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)		AATCATGACAGCGTTACAGAT	0.408000																								0							SO:0001583	missense			ENST00000255945.2	1	1	hg19	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136903	0.21123	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.05855	3.41;3.38	4.82	-4.67	0.03319	.	3.210380	0.00977	N	0.003336	T	0.05456	0.0144	L	0.53249	1.67	0.09310	N	1	B;B	0.17465	0.021;0.022	B;B	0.15484	0.013;0.008	T	0.37979	-0.9682	10	0.11794	T	0.64	.	0.1662	0.00108	0.305:0.229:0.233:0.2329	.	328;314	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	T	314;328;246	ENSP00000255945:A314T;ENSP00000419545:A328T	ENSP00000255945:A314T	A	+	1	0	GIMAP4	149901031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.027000	0.03592	-0.930000	0.03752	-0.169000	0.13324	GCG		TCGA-IB-7651-01A-11D-2154-08	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	1	0	0	17	354	0	83	0	9.973565e-01	0	202	0	83	2		0	0	0	0	0	2	1	9.999591e-01	16	345	0	83	2								-17.893190	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.520000	0.310000	0.780000	0.520000	0.537262	0.520000	0	4.000000e-01	6.500000e-01
GIMAP1	170575	broad.mit.edu	37	7	150417218	150417218	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417218C>A	ENST00000307194.5	+	3	266	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1			28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)		GGAAGAGCGCCACTGGGAACA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000307194.5	1	1	hg19	CCDS5906.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	0	0	1	164	674	0	170	0	9.999596e-01	0	61	0	170	2		0	0	0	0	0	2	1	1	165	667	0	169	2								-3.534142	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GIMAP1	170575	broad.mit.edu	37	7	150417696	150417696	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417696G>A	ENST00000307194.5	+	3	744	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1			28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)		AGCCCAGGTGGAGCAGCTGCT	0.682000																								0							SO:0001583	missense			ENST00000307194.5	0	1	hg19	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148281	0.01714	.	.	ENSG00000213203	ENST00000307194	T	0.05081	3.5	4.81	-9.61	0.00550	AIG1 (1);	1.483890	0.04627	U	0.402865	T	0.01730	0.0055	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42120	-0.9470	10	0.02654	T	1	.	9.6635	0.39969	0.3531:0.5014:0.1455:0.0	.	202	Q8WWP7	GIMA1_HUMAN	K	202	ENSP00000302833:E202K	ENSP00000302833:E202K	E	+	1	0	GIMAP1	150048629	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.913000	0.00697	-2.035000	0.00923	-0.172000	0.13284	GAG		TCGA-IB-7651-01A-11D-2154-08	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	1	0	1	27	152	0	18	0	9.964583e-01	0	53	0	18	2		0	0	0	0	0	2	1	1	27	148	0	18	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999338	0.990000	1	9.900000e-01	1
GIMAP5	55340	broad.mit.edu	37	7	150440033	150440033	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150440033A>G	ENST00000358647.3	+	3	1173	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5			19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)		AACTGGGCATACAAGGCGCTC	0.453000																								0							SO:0001583	missense			ENST00000358647.3	1	1	hg19	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	A	3.517	-0.098624	0.07010	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05786	3.39	4.12	-8.24	0.01029	.	3.840650	0.00550	N	0.000240	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.38643	T	0.18	.	6.2565	0.20877	0.2077:0.0806:0.5671:0.1446	.	269	Q96F15	GIMA5_HUMAN	C	269;305	ENSP00000351473:Y269C	ENSP00000351473:Y269C	Y	+	2	0	GIMAP5	150070966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.358000	0.00069	-2.620000	0.00440	-2.048000	0.00412	TAC		TCGA-IB-7651-01A-11D-2154-08	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	0	0	1	54	276	0	58	0	9.999959e-01	0	96	0	58	2		0	0	0	0	0	2	1	1	54	273	0	58	2								-20.000000	1	1	121412	1	30	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
KCNH2	3757	broad.mit.edu	37	7	150648836	150648836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648836C>T	ENST00000262186.5	-	7	2046	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	KCNH2_ENST00000392968.2_Missense_Mutation_p.V453M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M|KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2			42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AAGAACAGCACGGCCGCGCCG	0.647000													GBM(137;110 1844 13671 20123 45161)											0							SO:0001583	missense			ENST00000262186.5	1	1	hg19	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150737	0.57151	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.71206	2.165	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;0.961;0.995;0.975	D;D;P;P;P	0.91635	0.999;0.997;0.557;0.906;0.526	D	0.98021	1.0371	10	0.52906	T	0.07	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	453;549;209;549;209	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	M	209;453;549;209;549	ENSP00000328531:V209M;ENSP00000376695:V453M;ENSP00000262186:V549M;ENSP00000387657:V549M	ENSP00000262186:V549M	V	-	1	0	KCNH2	150279769	1.000000	0.71417	0.992000	0.48379	0.132000	0.20833	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GTG		TCGA-IB-7651-01A-11D-2154-08	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	1	0	1	50	226	0	46	0	7.481116e-01	0	14	0	46	2		0	0	0	0	0	2	1	1	47	224	0	46	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KCNH2	3757	broad.mit.edu	37	7	150648842	150648842	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648842C>T	ENST00000262186.5	-	7	2040	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	KCNH2_ENST00000392968.2_Missense_Mutation_p.A451T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T|KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	p.A547T(1)		42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGCACGGCCGCGCCGTACTCT	0.647000													GBM(137;110 1844 13671 20123 45161)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262186.5	1	1	hg19	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678089	0.68042	0.0	1.16E-4	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98330	0.9446	L	0.55017	1.72	0.54753	D	0.999987	D;D;P;D;P	0.89917	1.0;1.0;0.665;0.976;0.607	D;D;B;P;B	0.85130	0.997;0.995;0.255;0.782;0.23	D	0.99032	1.0821	10	0.87932	D	0	.	13.8392	0.63428	0.0:1.0:0.0:0.0	.	451;547;207;547;207	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	T	207;451;547;207;547	ENSP00000328531:A207T;ENSP00000376695:A451T;ENSP00000262186:A547T;ENSP00000387657:A547T	ENSP00000262186:A547T	A	-	1	0	KCNH2	150279775	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	7.454000	0.80714	2.126000	0.65437	0.491000	0.48974	GCG		TCGA-IB-7651-01A-11D-2154-08	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	1	0	1	48	213	0	43	0	7.205224e-01	0	13	0	43	2		0	0	0	0	0	2	1	1	45	211	0	43	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NOS3	4846	broad.mit.edu	37	7	150692340	150692340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150692340C>T	ENST00000484524.1	+	2	208	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NOS3_ENST00000297494.3_Missense_Mutation_p.R70C|NOS3_ENST00000467517.1_Missense_Mutation_p.R70C|NOS3_ENST00000461406.1_5'UTR	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)			50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		CAAGTTCCCTCGTGTGAAGAA	0.637000																								0							SO:0001583	missense			ENST00000484524.1	1	1	hg19	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.017679	0.54576	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.26067	1.76;1.76;1.76	4.2	-0.186	0.13272	Nitric oxide synthase, oxygenase domain (1);	0.000000	0.44902	D	0.000418	T	0.33177	0.0854	L	0.43923	1.385	0.40527	D	0.980891	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;D;P	0.67725	0.771;0.876;0.953;0.905	T	0.12656	-1.0539	10	0.87932	D	0	-23.0284	6.1525	0.20320	0.4592:0.4455:0.0:0.0952	.	70;70;70;70	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	C	70	ENSP00000297494:R70C;ENSP00000420215:R70C;ENSP00000420551:R70C	ENSP00000297494:R70C	R	+	1	0	NOS3	150323273	0.008000	0.16893	0.966000	0.40874	0.698000	0.40448	0.878000	0.28126	0.300000	0.22699	-0.174000	0.13273	CGT		TCGA-IB-7651-01A-11D-2154-08	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1	19	157	0	41	0	3.118012e-01	0	10	0	41	2		0	0	0	0	0	2	1	9.999922e-01	18	155	0	40	2								-20.000000	1	1	120876	1	26	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.750000	1.000000	1.000000	0.975448	0.990000	1	9.500000e-01	1
NOS3	4846	broad.mit.edu	37	7	150695754	150695754	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150695754G>A	ENST00000484524.1	+	6	802	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	NOS3_ENST00000297494.3_Missense_Mutation_p.V268M|NOS3_ENST00000467517.1_Missense_Mutation_p.V268M|NOS3_ENST00000461406.1_Missense_Mutation_p.V62M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)			50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		CCCAGCCAACGTGGAGATCAC	0.662000																								0							SO:0001583	missense			ENST00000484524.1	0	1	hg19	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.198993	0.79015	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (2);	0.111909	0.37857	N	0.001908	T	0.58892	0.2154	M	0.86805	2.84	0.48975	D	0.999739	D;D;D;D;D	0.64830	0.987;0.987;0.987;0.984;0.994	P;P;P;P;P	0.54499	0.689;0.689;0.754;0.636;0.638	T	0.67845	-0.5565	10	0.72032	D	0.01	-12.9524	16.4458	0.83932	0.0:0.0:1.0:0.0	.	268;268;268;62;268	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	268;62;268;268	ENSP00000297494:V268M;ENSP00000417143:V62M;ENSP00000420215:V268M;ENSP00000420551:V268M	ENSP00000297494:V268M	V	+	1	0	NOS3	150326687	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	5.725000	0.68507	2.548000	0.85928	0.637000	0.83480	GTG		TCGA-IB-7651-01A-11D-2154-08	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1	9	67	0	10	0	9.320226e-01	0	38	0	10	2		0	0	0	0	0	2	1	9.945275e-01	9	65	0	10	2								-15.958320	1	1	119870	1	17	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.640000	1.000000	1.000000	0.956773	0.990000	1	8.900000e-01	1
NOS3	4846	broad.mit.edu	37	7	150696357	150696357	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696357C>A	ENST00000484524.1	+	8	1036	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	NOS3_ENST00000297494.3_Missense_Mutation_p.L346M|NOS3_ENST00000467517.1_Missense_Mutation_p.L346M|NOS3_ENST00000461406.1_Missense_Mutation_p.L140M	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)			50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		AATTGGGGGCCTGGAGTTCCC	0.637000																								0							SO:0001583	missense			ENST00000484524.1	1	1	hg19	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	N	21.1	4.096264	0.76870	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.33216	1.5;1.42;1.5;1.5	5.31	5.31	0.75309	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.44902	D	0.000414	T	0.56156	0.1966	M	0.71920	2.185	0.48087	D	0.99958	P;P;D;D;D	0.89917	0.951;0.951;0.99;1.0;0.999	D;D;D;D;D	0.97110	0.935;0.948;0.978;1.0;0.978	T	0.59563	-0.7431	10	0.87932	D	0	-8.473	16.5106	0.84283	0.0:1.0:0.0:0.0	.	346;346;346;140;346	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	M	346;140;346;346	ENSP00000297494:L346M;ENSP00000417143:L140M;ENSP00000420215:L346M;ENSP00000420551:L346M	ENSP00000297494:L346M	L	+	1	2	NOS3	150327290	0.993000	0.37304	0.995000	0.50966	0.996000	0.88848	3.120000	0.50430	2.479000	0.83701	0.639000	0.83563	CTG		TCGA-IB-7651-01A-11D-2154-08	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1	103	682	0	147	0	7.586616e-01	0	20	0	147	2		0	0	0	0	0	2	1	1	103	667	0	139	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NOS3	4846	broad.mit.edu	37	7	150696386	150696386	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696386C>T	ENST00000484524.1	+	8	1065	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	NOS3_ENST00000297494.3_Silent_p.G355G|NOS3_ENST00000467517.1_Silent_p.G355G|NOS3_ENST00000461406.1_Silent_p.G149G	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)			50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		CCTTCAGTGGCTGGTACATGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000484524.1	1	1	hg19	CCDS55182.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1	112	708	0	179	0	8.210212e-01	0	22	0	179	2		0	0	0	0	0	2	1	1	111	690	0	171	2								-20.000000	1	0	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOS3	4846	broad.mit.edu	37	7	150698688	150698688	+	Silent	SNP	C	C	A	rs149990866	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698688C>A	ENST00000484524.1	+	11	1485	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	NOS3_ENST00000297494.3_Silent_p.T495T|NOS3_ENST00000467517.1_Silent_p.T495T|NOS3_ENST00000461406.1_Silent_p.T289T	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)			50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		GGAAGAAGACCTTTAAAGAAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000484524.1	1	1	hg19	CCDS55182.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1	204	1129	0	226	0	9.231272e-01	0	26	0	226	2		0	0	0	0	0	2	1	1	202	1100	0	223	2								-3.221886	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOS3	4846	broad.mit.edu	37	7	150704352	150704352	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150704352G>T	ENST00000297494.3	+	17	2457	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)			50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		GCTGGGCCCAGGCTGCCTTCC	0.682000																								0							SO:0001583	missense			ENST00000297494.3	1	1	hg19	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305078	0.40795	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.59638	0.25;0.25	5.43	3.38	0.38709	Flavodoxin/nitric oxide synthase (1);	0.326899	0.25511	N	0.030170	T	0.45034	0.1322	L	0.38531	1.155	0.80722	D	1	P;P	0.42785	0.553;0.79	B;B	0.42738	0.396;0.396	T	0.38650	-0.9651	10	0.46703	T	0.11	-17.7321	4.8809	0.13679	0.3627:0.0:0.6373:0.0	.	494;700	E7ESA7;P29474	.;NOS3_HUMAN	H	700;494	ENSP00000297494:Q700H;ENSP00000417143:Q494H	ENSP00000297494:Q700H	Q	+	3	2	NOS3	150335285	0.736000	0.28164	0.998000	0.56505	0.964000	0.63967	0.549000	0.23329	1.304000	0.44892	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	1	0	0	47	190	0	27	0	7.205220e-01	0	12	0	27	2		0	0	0	0	0	2	1	1	46	185	0	27	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOS3	4846	broad.mit.edu	37	7	150710326	150710326	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150710326G>T	ENST00000297494.3	+	25	3471	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000444312.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)			50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		CAGGGCTGCAGCCCACTCCCA	0.672000											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000297494.3	1	1	hg19	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466791	0.43839	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	D;D	0.86562	-2.14;-2.14	4.08	2.05	0.26809	Oxidoreductase FAD/NAD(P)-binding (1);	0.389995	0.22255	N	0.062486	T	0.75939	0.3918	N	0.21142	0.635	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.008;0.009	T	0.70296	-0.4911	10	0.54805	T	0.06	-6.9989	6.9468	0.24522	0.1009:0.0:0.7277:0.1715	.	832;1038	E7ESA7;P29474	.;NOS3_HUMAN	H	1038;832	ENSP00000297494:Q1038H;ENSP00000417143:Q832H	ENSP00000297494:Q1038H	Q	+	3	2	NOS3	150341259	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.259000	0.32956	1.025000	0.39708	0.484000	0.47621	CAG		TCGA-IB-7651-01A-11D-2154-08	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	1	0	1	94	437	0	89	1	9.934984e-01	8	30	0	89	2		0	0	0	0	0	2	1	1	94	433	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FASTK	10922	broad.mit.edu	37	7	150775933	150775933	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150775933C>T	ENST00000297532.6	-	3	758	c.681G>A	c.(679-681)ctG>ctA	p.L227L	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Intron|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L|FASTK_ENST00000489884.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase			6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)		CAGCACCTGCCAGGCTGCTGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000297532.6	1	1	hg19	CCDS5918.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	1	0	1	38	154	0	44	1	1	87	151	0	44	2		0	0	0	0	0	2	1	1	36	148	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
FASTK	10922	broad.mit.edu	37	7	150776915	150776915	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150776915C>T	ENST00000297532.6	-	2	254	c.177G>A	c.(175-177)caG>caA	p.Q59Q	FASTK_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000540185.1_Silent_p.Q25Q|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase			6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)		AACAGCAGGGCTGTACTGGAG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000297532.6	1	1	hg19	CCDS5918.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	1	0	1	17	51	0	12	1	1	58	114	0	12	2		0	0	0	0	0	2	1	9.999818e-01	16	50	0	12	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999661	0.990000	1	9.900000e-01	1
AGAP3	116988	broad.mit.edu	37	7	150837093	150837093	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150837093C>T	ENST00000397238.2	+	13	1694	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3			28					GTACTCAGTTCCAGCCCCAAG	0.652000																								0							SO:0001583	missense			ENST00000397238.2	0	1	hg19	CCDS43681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765334|4.765334	0.90020|0.90020	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000397232;ENST00000397238;ENST00000335355	.|T	.|0.70164	.|-0.46	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.775970	.|0.11883	.|N	.|0.520288	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;D	.|0.71674	.|0.943;0.998	.|B;P	.|0.61132	.|0.445;0.884	T|T	0.73325|0.73325	-0.4018|-0.4018	5|10	.|0.66056	.|D	.|0.02	.|.	17.2093|17.2093	0.86926|0.86926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|64;565	.|E7ETI2;Q96P47-4	.|.;.	S|F	58|64;565;529	.|ENSP00000380413:S565F	.|ENSP00000334157:S529F	P|S	+|+	1|2	0|0	AGAP3|AGAP3	150468026|150468026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	4.562000|4.562000	0.60816|0.60816	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CCA|TCC		TCGA-IB-7651-01A-11D-2154-08	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	1	0	1	10	55	0	8	1	9.990596e-01	11	67	0	8	2		0	0	0	0	0	2	1	9.967251e-01	9	52	0	7	2								-18.831560	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.790000	1.000000	1.000000	0.985077	0.990000	1	9.900000e-01	1
AGAP3	116988	broad.mit.edu	37	7	150839253	150839253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150839253C>T	ENST00000463381.1	+	13	1466	c.970C>T	c.(970-972)Cga>Tga	p.R324*	AGAP3_ENST00000397238.2_Nonsense_Mutation_p.R655*	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3			28					GCGACAGACTCGACTGGGGAA	0.627000																								0							SO:0001587	stop_gained			ENST00000463381.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	41	8.899776	0.98996	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.	.	.	4.77	3.87	0.44632	.	0.186266	0.40302	N	0.001132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1854	0.59677	0.161:0.839:0.0:0.0	.	.	.	.	X	324;154;655;619	.	ENSP00000334157:R619X	R	+	1	2	AGAP3	150470186	1.000000	0.71417	0.264000	0.24511	0.574000	0.36063	4.588000	0.60999	1.088000	0.41272	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	1	0	0	73	1437	0	260	1	9.924529e-01	2	143	0	260	2		0	0	0	0	0	2	1	1	72	1414	0	257	2								-6.474433	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.540000	0.420000	0.670000	0.540000	0.551956	0.540000	0	4.800000e-01	6.100000e-01
AGAP3	116988	broad.mit.edu	37	7	150840658	150840658	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150840658T>G	ENST00000463381.1	+	15	2007	c.1511T>G	c.(1510-1512)gTt>gGt	p.V504G	AGAP3_ENST00000397238.2_Missense_Mutation_p.V835G	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3			28					ATGGCCAACGTTGTCTTCACG	0.567000																								0							SO:0001583	missense			ENST00000463381.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.39|17.39	3.378686|3.378686	0.61735|0.61735	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.66638	.|-0.22;-0.22	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Ankyrin repeat-containing domain (4);	.|0.153604	.|0.44902	.|D	.|0.000411	T|T	0.78811|0.78811	0.4342|0.4342	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;0.974;0.928;0.999	.|D;P;P;D	.|0.97110	.|1.0;0.901;0.74;0.997	T|T	0.80997|0.80997	-0.1132|-0.1132	5|10	.|0.87932	.|D	.|0	.|.	14.5549|14.5549	0.68094|0.68094	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|799;334;835;504	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	V|G	328|504;334;835;799	.|ENSP00000418016:V504G;ENSP00000380413:V835G	.|ENSP00000334157:V799G	L|V	+|+	1|2	2|0	AGAP3|AGAP3	150471591|150471591	1.000000|1.000000	0.71417|0.71417	0.050000|0.050000	0.19076|0.19076	0.406000|0.406000	0.30931|0.30931	7.863000|7.863000	0.87023|0.87023	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TTG|GTT		TCGA-IB-7651-01A-11D-2154-08	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	1	0	1	80	373	0	98	1	1	31	138	0	98	2		0	0	0	0	0	2	1	1	79	366	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBX1	2636	broad.mit.edu	37	7	150846225	150846225	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150846225C>A	ENST00000297537.4	-	2	542	c.543G>T	c.(541-543)gaG>gaT	p.E181D	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1			7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)		ACACCTTCCCCTCTGCTGTGA	0.582000																								0							SO:0001583	missense			ENST00000297537.4	1	1	hg19	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829649	0.32329	.	.	ENSG00000164900	ENST00000297537	D	0.91996	-2.95	5.12	5.12	0.69794	.	0.000000	0.56097	U	0.000030	T	0.81408	0.4816	N	0.08118	0	0.80722	D	1	B	0.24920	0.114	B	0.24974	0.057	T	0.76542	-0.2921	10	0.18276	T	0.48	-28.0536	10.0885	0.42432	0.1519:0.7012:0.147:0.0	.	181	Q14549	GBX1_HUMAN	D	181	ENSP00000297537:E181D	ENSP00000297537:E181D	E	-	3	2	GBX1	150477158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.031000	0.30165	2.398000	0.81561	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1	1	0	0	311	1278	0	267		0	0	0	0	267	2		0	0	0	0	0	2	1	1	304	1247	0	265	2								-3.404810	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBX1	2636	broad.mit.edu	37	7	150864194	150864194	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150864194G>A	ENST00000297537.4	-	1	441	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1			7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)		TCAGCTTCCAGCCCACCCTCT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000297537.4	1	1	hg19	CCDS43682.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1	1	0	0	48	209	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	48	209	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ASB10	136371	broad.mit.edu	37	7	150873210	150873210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150873210C>T	ENST00000420175.2	-	5	1417	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000422024.1_Missense_Mutation_p.V510M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|ASB10_ENST00000377867.3_Missense_Mutation_p.V450M			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	p.V427L(1)|p.V465L(1)		12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)		TAGTAGAGCACGCCCTCAAAA	0.672000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000420175.2	1	1	hg19	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158322	0.57368	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.69306	-0.39;-0.32;-0.37;-0.39;-0.35	4.73	1.29	0.21616	.	0.402814	0.25944	N	0.027292	T	0.67154	0.2863	L	0.61218	1.895	0.22317	N	0.999205	D;D;D	0.65815	0.995;0.968;0.987	P;B;B	0.52627	0.704;0.401;0.416	T	0.59359	-0.7469	10	0.72032	D	0.01	-4.0365	6.6198	0.22796	0.0:0.6147:0.1575:0.2278	.	450;465;472	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	M	427;450;510;472;465	ENSP00000275838:V427M;ENSP00000367098:V450M;ENSP00000401369:V510M;ENSP00000398247:V472M;ENSP00000391137:V465M	ENSP00000275838:V427M	V	-	1	0	ASB10	150504143	0.009000	0.17119	0.919000	0.36401	0.984000	0.73092	-0.206000	0.09398	0.392000	0.25172	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	1	0	1	42	190	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	41	189	0	46	2								-20.000000	1	1	121116	1	27	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ASB10	136371	broad.mit.edu	37	7	150878501	150878501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150878501C>T	ENST00000420175.2	-	3	653	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000422024.1_Missense_Mutation_p.R255Q|ASB10_ENST00000275838.1_Missense_Mutation_p.R210Q|ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10			12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)		TTCCTCGGACCGACCATCCAC	0.637000																								0							SO:0001583	missense			ENST00000420175.2	1	1	hg19	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338483	0.41398	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.14	3.33	0.38152	Ankyrin repeat-containing domain (3);	0.350110	0.30602	N	0.009273	T	0.46073	0.1374	N	0.13327	0.33	0.31035	N	0.716972	P;D;D	0.89917	0.865;1.0;1.0	B;D;D	0.72625	0.391;0.974;0.978	T	0.46735	-0.9170	10	0.25751	T	0.34	-12.42	10.0366	0.42133	0.0:0.7716:0.0:0.2284	.	195;210;255	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	Q	210;195;255;255;210	ENSP00000275838:R210Q;ENSP00000367098:R195Q;ENSP00000401369:R255Q;ENSP00000398247:R255Q;ENSP00000391137:R210Q	ENSP00000275838:R210Q	R	-	2	0	ASB10	150509434	0.011000	0.17503	0.996000	0.52242	0.680000	0.39746	0.308000	0.19314	0.673000	0.31224	-0.140000	0.14226	CGG		TCGA-IB-7651-01A-11D-2154-08	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	1	0	1	42	178	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	41	176	0	50	2								-3.439049	1	1	121278	3	34	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
ASB10	136371	broad.mit.edu	37	7	150884173	150884173	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150884173C>T	ENST00000420175.2	-	1	69	c.45G>A	c.(43-45)gaG>gaA	p.E15E	ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000422024.1_Silent_p.E60E|ASB10_ENST00000275838.1_Silent_p.E15E|ASB10_ENST00000377867.3_Intron			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10			12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)		CATCGAGGGGCTCTCCCTGCC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000420175.2	0	1	hg19	CCDS47750.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	0	0	0	14	59	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.998238e-01	13	58	0	11	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.980000	1.000000	1.000000	0.997569	0.990000	1	9.900000e-01	1
CHPF2	54480	broad.mit.edu	37	7	150931242	150931242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150931242C>T	ENST00000035307.2	+	1	1658	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CHPF2_ENST00000495645.1_Nonsense_Mutation_p.R41*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2			17					TGTAGGGGAGCGAGGAGGGCC	0.592000																								0							SO:0001587	stop_gained			ENST00000035307.2	0	1	hg19	CCDS34779.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	32	5.173336	0.94807	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	.	.	.	5.25	4.36	0.52297	.	0.719501	0.13914	N	0.354060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.3935	12.9403	0.58340	0.0:0.837:0.163:0.0	.	.	.	.	X	41;49;49	.	ENSP00000035307:R49X	R	+	1	2	CHPF2	150562175	0.758000	0.28405	0.936000	0.37596	0.359000	0.29487	3.251000	0.51453	1.200000	0.43188	0.462000	0.41574	CGA		TCGA-IB-7651-01A-11D-2154-08	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	1	0	0	31	393	0	77	1	9.999350e-01	6	182	0	77	2		0	0	0	0	0	2	1	1	31	387	0	76	2								-3.318795	1	1	121412	2	35	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.820000	0.570000	1.000000	1.000000	0.827533	0.820000	0	6.900000e-01	9.700000e-01
CHPF2	54480	broad.mit.edu	37	7	150935457	150935457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150935457C>T	ENST00000035307.2	+	4	3522	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.A662V|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2			17					CAGGCTTCTGCGGAGGGCTGC	0.711000																								0							SO:0001583	missense			ENST00000035307.2	1	1	hg19	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702049	0.48307	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.16196	2.36;2.36	4.81	3.93	0.45458	.	0.235349	0.42964	D	0.000628	T	0.10208	0.0250	N	0.14661	0.345	0.36327	D	0.858613	P;B	0.48834	0.916;0.0	B;B	0.38755	0.281;0.001	T	0.19418	-1.0306	10	0.72032	D	0.01	-7.7357	12.433	0.55584	0.0:0.9194:0.0:0.0806	.	670;662	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	V	662;670	ENSP00000418914:A662V;ENSP00000035307:A670V	ENSP00000035307:A670V	A	+	2	0	CHPF2	150566390	1.000000	0.71417	0.299000	0.25016	0.957000	0.61999	4.766000	0.62279	1.246000	0.43901	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	1	0	1	21	91	0	24	1	9.999999e-01	15	122	0	24	2		0	0	0	0	0	2	1	9.999980e-01	17	89	0	24	2								-20.000000	1	1	121064	8	31	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999555	0.990000	1	9.900000e-01	1
SMARCD3	6604	broad.mit.edu	37	7	150936233	150936233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150936233G>A	ENST00000262188.8	-	13	1818	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R457C|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000477169.1_5'Flank	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3			15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)		TCCTGCCTGCGCTGCTGGATC	0.572000																								0							SO:0001583	missense			ENST00000262188.8	1	1	hg19	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726761	0.48833	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.50548	0.74;0.77;0.77	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.76071	0.556;0.987	T	0.75230	-0.3391	10	0.87932	D	0	-9.877	15.7995	0.78443	0.0:0.0:1.0:0.0	.	457;470	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	C	470;457;457;422	ENSP00000262188:R470C;ENSP00000376558:R457C;ENSP00000349254:R457C	ENSP00000262188:R470C	R	-	1	0	SMARCD3	150567166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.928000	0.28831	2.401000	0.81631	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	1	0	1	113	512	0	114	1	1	10	117	0	114	2		0	0	0	0	0	2	1	1	110	505	0	112	2								-20.000000	1	1	121412	12	43	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR86	349136	broad.mit.edu	37	7	151079024	151079024	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151079024C>T	ENST00000334493.6	-	5	1336	c.906G>A	c.(904-906)gcG>gcA	p.A302A	WDR86_ENST00000477459.1_Missense_Mutation_p.R129H|WDR86_ENST00000469830.2_Missense_Mutation_p.A324T|WDR86_ENST00000463000.1_Intron	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86			10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)		CTCCAGACTGCGCGTCGAAGG	0.706000																								0							SO:0001819	synonymous_variant			ENST00000334493.6	0	1	hg19	CCDS5925.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.49|19.49	3.837177|3.837177	0.71373|0.71373	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187260|ENSG00000187260	ENST00000469830|ENST00000477459	T|T	0.61392|0.58506	0.11|0.33	4.47|4.47	0.139|0.139	0.14798|0.14798	.|.	.|0.469068	.|0.13213	.|N	.|0.405041	T|T	0.30135|0.30135	0.0755|0.0755	.|.	.|.	.|.	0.20307|0.20307	N|N	0.999919|0.999919	B|B	0.30211|0.22909	0.273|0.077	B|B	0.15052|0.09377	0.012|0.004	T|T	0.09357|0.09357	-1.0678|-1.0678	8|9	0.08837|0.20046	T|T	0.75|0.44	-12.6375|-12.6375	1.6353|1.6353	0.02740|0.02740	0.1945:0.3125:0.3458:0.1472|0.1945:0.3125:0.3458:0.1472	.|.	324|129	B4DJF1|C9JAJ5	.|.	T|H	324|129	ENSP00000419162:A324T|ENSP00000417512:R129H	ENSP00000419162:A324T|ENSP00000417512:R129H	A|R	-|-	1|2	0|0	WDR86|WDR86	150709957|150709957	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.825000|0.825000	0.46686|0.46686	0.142000|0.142000	0.16096|0.16096	0.325000|0.325000	0.23359|0.23359	0.313000|0.313000	0.20887|0.20887	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	0	0	0	17	91	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999791e-01	17	91	0	12	2								-3.389893	1	1	121126	3	30	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.960000	1.000000	1.000000	0.996928	0.990000	1	9.900000e-01	1
WDR86	349136	broad.mit.edu	37	7	151097270	151097270	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151097270C>A	ENST00000334493.6	-	2	651	c.221G>T	c.(220-222)aGc>aTc	p.S74I	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.S74I	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86			10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)		GCAGTCGGCGCTGCATGTGAA	0.607000																								0							SO:0001583	missense			ENST00000334493.6	0	1	hg19	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262929	0.80358	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.74526	-0.85;-0.85	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	D	0.90940	0.7152	H	0.96943	3.91	0.39221	D	0.963495	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.981	D	0.94693	0.7876	9	0.87932	D	0	-20.8032	16.8851	0.86074	0.0:1.0:0.0:0.0	.	74;74;32	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	I	74	ENSP00000335522:S74I;ENSP00000419162:S74I	ENSP00000335522:S74I	S	-	2	0	WDR86	150728203	0.998000	0.40836	0.993000	0.49108	0.941000	0.58515	4.153000	0.58118	2.311000	0.77944	0.585000	0.79938	AGC		TCGA-IB-7651-01A-11D-2154-08	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	1	0	0	11	111	0	20	0	2.795699e-02	0	3	0	20	2		0	0	0	0	0	2	1	9.985218e-01	10	111	0	20	2								-17.391850	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.540000	1.000000	1.000000	0.905039	0.990000	1	7.500000e-01	1
PRKAG2	51422	broad.mit.edu	37	7	151372653	151372653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151372653G>A	ENST00000287878.4	-	4	1041	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PRKAG2_ENST00000433631.2_Silent_p.S55S|PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Silent_p.S135S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit			26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	Acetylsalicylic acid(DB00945)	CGTGCTTATAGGATTCCAGGG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000287878.4	0	1	hg19	CCDS5928.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	0	0	0	10	538	0	105	0	1.240549e-01	0	30	0	105	2		0	0	0	0	0	2	1	9.965958e-01	10	527	0	104	2								-2.490764	0	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.210000	0.100000	0.360000	0.210000	0.223910	0.210000	0	1.500000e-01	2.900000e-01
GALNTL5	168391	broad.mit.edu	37	7	151668056	151668056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151668056G>T	ENST00000392800.2	+	3	528	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5			32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)		TACAAACCCAGAACTTCATAA	0.338000																								0							SO:0001587	stop_gained			ENST00000392800.2	0	1	hg19	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144923	0.94603	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	.	.	.	4.94	3.14	0.36123	.	1.405840	0.04436	N	0.370099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.6325	0.28247	0.1907:0.0:0.8093:0.0	.	.	.	.	X	92	.	ENSP00000376548:E92X	E	+	1	0	GALNTL5	151298989	0.757000	0.28394	0.028000	0.17463	0.023000	0.10783	1.917000	0.39996	0.788000	0.33755	-0.140000	0.14226	GAA		TCGA-IB-7651-01A-11D-2154-08	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	1	0	1	34	206	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	34	202	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999569	0.990000	1	9.900000e-01	1
INTS1	26173	broad.mit.edu	37	7	1525021	1525021	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525021C>T	ENST00000404767.3	-	23	3146	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N	INTS1_ENST00000389470.4_Missense_Mutation_p.D1183N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1			62		Ovarian(82;0.0253)			TGCAGCACATCTGTGTCCCCC	0.657000																								0							SO:0001583	missense			ENST00000404767.3	1	1	hg19	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535348	0.27475	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44083	0.97;0.93	5.2	4.32	0.51571	.	0.101878	0.64402	D	0.000003	T	0.30510	0.0767	N	0.22421	0.69	0.35414	D	0.792645	B;B	0.26258	0.145;0.036	B;B	0.23716	0.048;0.03	T	0.36504	-0.9745	10	0.52906	T	0.07	.	13.3633	0.60669	0.0:0.924:0.0:0.076	.	1189;1021	A4D213;Q8N201	.;INT1_HUMAN	N	1021;1183	ENSP00000385722:D1021N;ENSP00000374121:D1183N	ENSP00000374121:D1183N	D	-	1	0	INTS1	1491547	1.000000	0.71417	0.002000	0.10522	0.036000	0.12997	5.392000	0.66272	1.181000	0.42912	0.561000	0.74099	GAT		TCGA-IB-7651-01A-11D-2154-08	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	1	0	1	58	318	0	77	1	9.999802e-01	27	62	0	77	2		0	0	0	0	0	2	1	1	58	309	0	75	2								-3.324412	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS1	26173	broad.mit.edu	37	7	1525106	1525106	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525106C>A	ENST00000404767.3	-	23	3062		c.e23-1		INTS1_ENST00000389470.4_Missense_Mutation_p.Q1154H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1			62		Ovarian(82;0.0253)			GCGACAAACCCTGTGGCAGAC	0.672000																								0							SO:0001630	splice_region_variant			ENST00000404767.3	1	0	hg19	CCDS47526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.13|13.13	2.143877|2.143877	0.37825|0.37825	.|.	.|.	ENSG00000164880|ENSG00000164880	ENST00000404767|ENST00000389470	.|T	.|0.46451	.|0.87	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57446	.|0.2054	.|.	.|.	.|.	0.37569|0.37569	D|D	0.919357|0.919357	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60944	.|-0.7162	.|5	.|.	.|.	.|.	.|.	18.3337|18.3337	0.90280|0.90280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|1154	.|ENSP00000374121:Q1154H	.|.	.|Q	-|-	.|3	.|2	INTS1|INTS1	1491632|1491632	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.059000|0.059000	0.15707|0.15707	7.268000|7.268000	0.78473|0.78473	2.334000|2.334000	0.79466|0.79466	0.561000|0.561000	0.74099|0.74099	.|CAG		TCGA-IB-7651-01A-11D-2154-08	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	1	0	0	27	141	0	29	1	7.405381e-02	2	1	0	29	2		0	0	0	0	0	2	1	1	27	139	0	28	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999950	0.990000	1	9.900000e-01	1
INTS1	26173	broad.mit.edu	37	7	1538957	1538957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1538957C>A	ENST00000404767.3	-	7	969	c.884G>T	c.(883-885)aGc>aTc	p.S295I	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.S423I	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1			62		Ovarian(82;0.0253)			CTCCGTCTGGCTGTCCTCCTC	0.692000																								0							SO:0001583	missense			ENST00000404767.3	1	1	hg19	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769171	0.49680	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48836	0.8;0.81	4.85	4.85	0.62838	.	0.203137	0.50627	D	0.000108	T	0.50222	0.1603	L	0.46157	1.445	0.39377	D	0.966195	P;P	0.45011	0.848;0.82	P;B	0.45829	0.494;0.312	T	0.58025	-0.7709	10	0.62326	D	0.03	.	17.9689	0.89107	0.0:1.0:0.0:0.0	.	423;295	A4D212;Q8N201	.;INT1_HUMAN	I	295;423	ENSP00000385722:S295I;ENSP00000374121:S423I	ENSP00000374121:S423I	S	-	2	0	INTS1	1505483	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	2.937000	0.48979	2.229000	0.72834	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	1	0	0	122	644	0	130	1	9.966845e-01	2	45	0	130	2		0	0	0	0	0	2	1	1	119	629	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS1	26173	broad.mit.edu	37	7	1542716	1542716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1542716C>T	ENST00000404767.3	-	3	255	c.170G>A	c.(169-171)cGc>cAc	p.R57H	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.R185H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1			62		Ovarian(82;0.0253)			ATCCCGCTTGCGCTCAGAAGG	0.647000																								0							SO:0001583	missense			ENST00000404767.3	1	1	hg19	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379939	0.95945	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.52526	0.66;0.68	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.949;0.98	T	0.69989	-0.4995	10	0.87932	D	0	.	16.3381	0.83073	0.0:1.0:0.0:0.0	.	185;57	A4D212;Q8N201	.;INT1_HUMAN	H	57;185	ENSP00000385722:R57H;ENSP00000374121:R185H	ENSP00000374121:R185H	R	-	2	0	INTS1	1509242	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.190000	0.77755	2.374000	0.81015	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	1	0	1	102	451	0	69	1	9.931937e-01	12	24	0	69	2		0	0	0	0	1	2	1	1	101	435	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP6	1804	broad.mit.edu	37	7	154596655	154596655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154596655C>T	ENST00000377770.3	+	15	1669	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	DPP6_ENST00000427557.1_Missense_Mutation_p.R403W|DPP6_ENST00000332007.3_Missense_Mutation_p.R448W|DPP6_ENST00000404039.1_Missense_Mutation_p.R446W			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6			71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		GGACCTGCCTCGGAGACGACA	0.557000													NSCLC(125;1384 1783 2490 7422 34254)											0							SO:0001583	missense			ENST00000377770.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101985	0.56183	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.04	1.69	0.24217	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.243875	0.48286	D	0.000193	T	0.50188	0.1601	M	0.73962	2.25	0.37883	D	0.930458	D;D;D;D	0.76494	0.994;0.999;0.999;0.999	P;P;P;D	0.63192	0.832;0.901;0.861;0.912	T	0.58148	-0.7687	10	0.66056	D	0.02	-12.2056	13.0161	0.58757	0.331:0.669:0.0:0.0	.	403;448;510;446	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	W	446;510;448;403	ENSP00000385578:R446W;ENSP00000367001:R510W;ENSP00000328226:R448W;ENSP00000397303:R403W	ENSP00000328226:R448W	R	+	1	2	DPP6	154227588	0.899000	0.30636	0.001000	0.08648	0.759000	0.43091	1.793000	0.38764	0.126000	0.18424	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	1	0	1	8	33	0	8	0	2.852734e-01	0	5	0	8	2		0	0	0	0	0	2	1	9.918790e-01	8	33	0	8	2								-16.618040	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.800000	1.000000	1.000000	0.986903	0.990000	1	9.900000e-01	1
PAXIP1	22976	broad.mit.edu	37	7	154767875	154767875	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154767875T>G	ENST00000404141.1	-	6	759	c.605A>C	c.(604-606)gAa>gCa	p.E202A	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.E202A			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1			33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)		ttcctcattttctacttcctc	0.438000																								0							SO:0001583	missense			ENST00000404141.1	0	1	hg19	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	T	9.517	1.107271	0.20714	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	T;T	0.33865	1.39;1.39	5.22	2.88	0.33553	.	0.534254	0.16281	U	0.221350	T	0.26412	0.0645	L	0.50333	1.59	0.22342	N	0.999183	B;B;B;B	0.24823	0.022;0.112;0.063;0.022	B;B;B;B	0.23852	0.01;0.049;0.022;0.01	T	0.33879	-0.9851	10	0.05436	T	0.98	-5.5449	8.8637	0.35274	0.0:0.1534:0.0:0.8466	.	155;111;168;202	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	A	202;202;150;155;160	ENSP00000384048:E202A;ENSP00000380376:E202A	ENSP00000319149:E155A	E	-	2	0	PAXIP1	154398808	1.000000	0.71417	0.004000	0.12327	0.958000	0.62258	2.848000	0.48278	0.327000	0.23409	0.254000	0.18369	GAA		TCGA-IB-7651-01A-11D-2154-08	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	1	0	0	7	54	0	8	1	8.792098e-01	8	23	0	8	2		0	0	0	0	0	2	1	9.779775e-01	6	51	0	8	2								-13.682770	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.560000	1.000000	1.000000	0.936541	0.990000	1	8.200000e-01	1
HTR5A	3361	broad.mit.edu	37	7	154863276	154863276	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863276A>T	ENST00000287907.2	+	1	1243	c.667A>T	c.(667-669)Atc>Ttc	p.I223F	HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled			48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTACTGGAAGATCTACAAGGC	0.567000																								0							SO:0001583	missense			ENST00000287907.2	1	1	hg19	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270334	0.80469	.	.	ENSG00000157219	ENST00000287907	T	0.57436	0.4	4.76	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.048431	0.85682	D	0.000000	T	0.79375	0.4435	H	0.97564	4.03	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	T	0.83349	-0.0004	10	0.87932	D	0	.	10.1703	0.42906	0.9222:0.0:0.0778:0.0	.	223	P47898	5HT5A_HUMAN	F	223	ENSP00000287907:I223F	ENSP00000287907:I223F	I	+	1	0	HTR5A	154494209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.800000	0.69108	0.874000	0.35823	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	1	0	1	33	210	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	32	201	0	50	2								-16.132660	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999194	0.990000	1	9.900000e-01	1
INSIG1	3638	broad.mit.edu	37	7	155093360	155093360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155093360G>T	ENST00000340368.4	+	3	708	c.497G>T	c.(496-498)cGc>cTc	p.R166L	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1			19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)		AGTGTCATGCGCTGCATAGCA	0.433000																								0							SO:0001583	missense			ENST00000340368.4	1	1	hg19	CCDS5938.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646578	0.96704	.	.	ENSG00000186480	ENST00000340368	T	0.57595	0.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.73975	-0.3813	10	0.51188	T	0.08	.	18.8026	0.92023	0.0:0.0:1.0:0.0	.	166	O15503	INSI1_HUMAN	L	166	ENSP00000344741:R166L	ENSP00000344741:R166L	R	+	2	0	INSIG1	154724293	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.451000	0.97610	2.602000	0.87976	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	1	0	1	138	565	0	127	1	1	43	181	0	127	2		0	0	0	0	0	2	1	1	137	558	0	127	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNPY1	285888	broad.mit.edu	37	7	155301652	155301652	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155301652T>G	ENST00000321736.5	-	2	243	c.81A>C	c.(79-81)aaA>aaC	p.K27N	CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1			8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)		CTTGGTATATTTTGTCTCCTT	0.393000																								0							SO:0001583	missense			ENST00000321736.5	1	1	hg19	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501138	0.26861	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.35421	1.31;1.31	4.85	-0.421	0.12332	.	0.372425	0.28332	N	0.015735	T	0.20455	0.0492	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.34722	0.188	T	0.12708	-1.0537	9	0.29301	T	0.29	-2.7614	0.481	0.00547	0.2498:0.1441:0.2583:0.3478	.	27	Q3B7I2	CNPY1_HUMAN	N	27	ENSP00000384514:K27N;ENSP00000317439:K27N	ENSP00000317439:K27N	K	-	3	2	CNPY1	154994413	0.271000	0.24162	0.204000	0.23530	0.583000	0.36354	0.016000	0.13377	-0.336000	0.08438	0.455000	0.32223	AAA		TCGA-IB-7651-01A-11D-2154-08	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	1	0	1	82	326	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	81	321	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM33	155435	broad.mit.edu	37	7	155504066	155504066	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155504066C>T	ENST00000401878.3	+	8	1316	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33			27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)		ATGATGATGACCCCGCCACCC	0.602000																								0							SO:0001583	missense			ENST00000401878.3	1	1	hg19	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.010313|3.010313	0.54361|0.54361	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878;ENST00000440108	.|T	.|0.52754	.|0.65	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.64776	.|0.929;0.929	T|T	0.56275|0.56275	-0.8006|-0.8006	5|9	.|0.36615	.|T	.|0.2	.|.	13.1715|13.1715	0.59602|0.59602	0.1595:0.8405:0.0:0.0|0.1595:0.8405:0.0:0.0	.|.	.|90;373	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	S|I	145|373;274	.|ENSP00000384160:T373I	.|ENSP00000384160:T373I	P|T	+|+	1|2	0|0	RBM33|RBM33	155196827|155196827	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.768000|0.768000	0.43524|0.43524	3.648000|3.648000	0.54410|0.54410	2.292000|2.292000	0.77174|0.77174	0.557000|0.557000	0.71058|0.71058	CCC|ACC		TCGA-IB-7651-01A-11D-2154-08	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	1	0	1	34	207	0	60	1	9.520948e-01	7	26	0	60	2		0	0	0	0	0	2	1	1	33	200	0	58	2								-20.000000	1	1	121042	1	32	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999547	0.990000	1	9.900000e-01	1
RBM33	155435	broad.mit.edu	37	7	155556568	155556568	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155556568G>A	ENST00000401878.3	+	15	3240	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	RBM33_ENST00000341148.3_5'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33			27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)		CCCAGCCTCCGGAAGTGGGAC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000401878.3	0	1	hg19	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	A	2.515	-0.312011	0.05422	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.91	-3.05	0.05396	.	.	.	.	.	T	0.65984	0.2744	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62416	-0.6859	4	.	.	.	.	15.7905	0.78357	0.4084:0.0:0.5916:0.0	.	.	.	.	Q	787	.	.	R	+	2	0	RBM33	155249329	0.571000	0.26659	0.106000	0.21319	0.233000	0.25261	-0.089000	0.11180	-1.219000	0.02597	-0.982000	0.02568	CGG		TCGA-IB-7651-01A-11D-2154-08	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	1	0	1	15	71	0	9	1	9.975694e-01	12	40	0	9	2		0	0	0	0	0	2	1	9.999157e-01	15	70	0	9	2								-20.000000	1	1	120890	2	29	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.970000	1.000000	1.000000	0.997165	0.990000	1	9.900000e-01	1
RBM33	155435	broad.mit.edu	37	7	155559212	155559212	+	Missense_Mutation	SNP	C	C	T	rs146087306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155559212C>T	ENST00000401878.3	+	16	3436	c.3238C>T	c.(3238-3240)Cgc>Tgc	p.R1080C	RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33			27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)		GGGCCGGGGGCGCCTGATGCC	0.612000																								0							SO:0001583	missense			ENST00000401878.3	1	1	hg19	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701164	0.88924	0.0	1.16E-4	ENSG00000184863	ENST00000401878;ENST00000438356;ENST00000341148	T	0.59638	0.25	5.54	5.54	0.83059	.	0.000000	0.40385	U	0.001104	T	0.75466	0.3853	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	0.973;1.0	P;D	0.87578	0.774;0.998	T	0.77112	-0.2708	10	0.87932	D	0	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	798;1080	B4DVQ2;Q96EV2	.;RBM33_HUMAN	C	1080;16;16	ENSP00000384160:R1080C	ENSP00000341583:R16C	R	+	1	0	RBM33	155251973	1.000000	0.71417	0.964000	0.40570	0.961000	0.63080	7.117000	0.77129	2.589000	0.87451	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	1	0	1	20	148	0	28	1	9.403138e-01	9	28	0	28	2		0	0	0	0	0	2	1	9.999961e-01	20	146	0	28	2								-5.768426	1	1	121398	7	38	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.830000	1.000000	1.000000	0.988301	0.990000	1	9.900000e-01	1
RNF32	140545	broad.mit.edu	37	7	156468427	156468427	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468427A>C	ENST00000405335.1	+	9	1131	c.722A>C	c.(721-723)aAc>aCc	p.N241T	RNF32_ENST00000311822.8_Missense_Mutation_p.N241T|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T			Q9H0A6	RNF32_HUMAN	ring finger protein 32			15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		TGCTCATACAACACCAACATT	0.517000																								0							SO:0001583	missense			ENST00000405335.1	1	1	hg19	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	3.878	-0.026452	0.07589	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.22743	2.3;2.3;2.3;1.94;2.3;1.97	5.23	1.57	0.23409	.	0.722210	0.14790	N	0.298282	T	0.14013	0.0339	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.001	T	0.27054	-1.0085	10	0.30854	T	0.27	-3.3078	8.2561	0.31758	0.6967:0.0:0.3033:0.0	.	241;241	G5E940;Q9H0A6	.;RNF32_HUMAN	T	241;241;241;241;241;217	ENSP00000405588:N241T;ENSP00000315950:N241T;ENSP00000385285:N241T;ENSP00000308894:N241T;ENSP00000376499:N241T;ENSP00000341185:N217T	ENSP00000308894:N241T	N	+	2	0	RNF32	156161188	0.000000	0.05858	0.052000	0.19188	0.584000	0.36387	0.021000	0.13489	0.029000	0.15352	-0.274000	0.10170	AAC		TCGA-IB-7651-01A-11D-2154-08	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	0	0	1	84	443	0	94	1	6.795201e-01	4	10	0	94	2		0	0	0	0	0	2	1	1	81	434	0	94	2								-20.000000	1	0	121412	9	43	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF32	140545	broad.mit.edu	37	7	156468458	156468458	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468458C>T	ENST00000405335.1	+	9	1162	c.753C>T	c.(751-753)atC>atT	p.I251I	RNF32_ENST00000311822.8_Silent_p.I251I|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000432459.2_Silent_p.I251I|RNF32_ENST00000392743.2_Silent_p.I251I|RNF32_ENST00000343665.4_Silent_p.I227I			Q9H0A6	RNF32_HUMAN	ring finger protein 32			15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		TTGCAGAAATCGATCAGTGCT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000405335.1	1	1	hg19	CCDS5944.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	1	0	1	100	513	0	105	1	6.924789e-01	6	8	0	105	2		0	0	0	0	0	2	1	1	99	497	0	105	2								-3.323536	1	0	121412	1	35	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMBR1	64327	broad.mit.edu	37	7	156555863	156555863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156555863C>T	ENST00000353442.5	-	7	794	c.558G>A	c.(556-558)tgG>tgA	p.W186*	LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1			18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)		GATAGAACTCCCAGAGATCta	0.289000																								0							SO:0001587	stop_gained			ENST00000353442.5	0	1	hg19	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	38	6.944995	0.97952	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0404	18.8532	0.92241	0.0:1.0:0.0:0.0	.	.	.	.	X	186;34;184;186;165;186	.	ENSP00000337803:W186X	W	-	3	0	LMBR1	156248624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.266000	0.58871	2.547000	0.85894	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	1	0	1	16	139	0	22	1	9.976254e-01	3	87	0	22	2		0	0	0	0	0	2	1	9.999435e-01	16	137	0	22	2								-3.018126	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.690000	1.000000	1.000000	0.960771	0.990000	1	8.900000e-01	1
LMBR1	64327	broad.mit.edu	37	7	156589187	156589187	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156589187C>A	ENST00000353442.5	-	5	556		c.e5-1		LMBR1_ENST00000354505.4_Splice_Site|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000540390.1_Splice_Site	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1			18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)		TTCCACAAACCTATAAAAAGG	0.313000																								0							SO:0001630	splice_region_variant			ENST00000353442.5	1	1	hg19	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771340	0.49680	.	.	ENSG00000105983	ENST00000353442;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0087	0.89217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LMBR1	156281948	1.000000	0.71417	0.990000	0.47175	0.790000	0.44656	7.064000	0.76721	2.326000	0.78906	0.485000	0.47835	.		TCGA-IB-7651-01A-11D-2154-08	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	1	0	1	12	51	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.993068e-01	12	49	0	16	2								-10.621030	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.930000	1.000000	1.000000	0.995672	0.990000	1	9.900000e-01	1
MNX1	3110	broad.mit.edu	37	7	156803024	156803024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156803024G>A	ENST00000252971.6	-	1	321	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MNX1_ENST00000469500.1_5'Flank|MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000543409.1_5'Flank	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1			7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)		CGTCGATGCGGAAATTTTTGG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000252971.6	1	1	hg19	CCDS34788.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3	1	0	0	17	78	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.998609e-01	12	63	0	11	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.998458	0.990000	1	9.900000e-01	1
UBE3C	9690	broad.mit.edu	37	7	156974923	156974923	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156974923C>A	ENST00000348165.5	+	8	1252	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C			63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)		CGAGCCCTTTCTGAATGCACT	0.438000																								0							SO:0001583	missense			ENST00000348165.5	1	1	hg19	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259424	0.59321	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.55588	0.51	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.998;0.999	T	0.69105	-0.5233	10	0.33940	T	0.23	.	18.4758	0.90792	0.0:1.0:0.0:0.0	.	298;298;255	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	M	298;255	ENSP00000309198:L298M	ENSP00000309198:L298M	L	+	1	2	UBE3C	156667684	1.000000	0.71417	0.705000	0.30386	0.062000	0.15995	7.455000	0.80726	2.366000	0.80165	0.455000	0.32223	CTG		TCGA-IB-7651-01A-11D-2154-08	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	1	0	1	96	482	0	89	1	1	51	111	0	89	2		0	0	0	0	0	2	1	1	93	475	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPG2	54892	broad.mit.edu	37	7	158448052	158448052	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158448052C>T	ENST00000409423.1	-	21	2656	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	NCAPG2_ENST00000275830.10_Silent_p.L620L|NCAPG2_ENST00000449727.2_Silent_p.L828L|NCAPG2_ENST00000409339.3_Silent_p.L828L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000541468.1_Silent_p.L329L	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2			39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)		GATGGATGCTCAGGCGACAGT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000409423.1	1	1	hg19	CCDS43686.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	1	0	1	171	887	0	257	1	9.938936e-01	10	31	0	257	2		0	0	0	0	0	2	1	1	170	870	0	256	2								-20.000000	1	1	121072	1	34	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPG2	54892	broad.mit.edu	37	7	158457323	158457323	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158457323C>A	ENST00000409423.1	-	15	1771	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D|NCAPG2_ENST00000409339.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2			39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)		ACCAGACCTCCTCCGGCTGAT	0.572000																								0							SO:0001583	missense			ENST00000409423.1	1	1	hg19	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.218489|4.218489	0.79464|0.79464	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.35236|.	1.32;1.41;1.41;1.49;1.41;1.41|.	5.71|5.71	3.88|3.88	0.44766|0.44766	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60196|0.60196	0.2250|0.2250	L|L	0.50333|0.50333	1.59|1.59	0.46458|0.46458	D|D	0.999054|0.999054	D;D;D;D|.	0.89917|.	1.0;0.996;0.999;1.0|.	D;P;D;D|.	0.87578|.	0.998;0.875;0.991;0.996|.	T|T	0.57985|0.57985	-0.7716|-0.7716	10|5	0.36615|.	T|.	0.2|.	-33.4837|-33.4837	11.8166|11.8166	0.52214|0.52214	0.0:0.8046:0.0:0.1954|0.0:0.8046:0.0:0.1954	.|.	533;34;325;533|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	D|M	34;533;533;325;533;34;533|335	ENSP00000442337:E34D;ENSP00000348657:E533D;ENSP00000386569:E533D;ENSP00000275830:E325D;ENSP00000387007:E533D;ENSP00000388326:E533D|.	ENSP00000275830:E325D|.	E|R	-|-	3|2	2|0	NCAPG2|NCAPG2	158150084|158150084	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	1.617000|1.617000	0.36943|0.36943	1.548000|1.548000	0.49413|0.49413	0.655000|0.655000	0.94253|0.94253	GAG|AGG		TCGA-IB-7651-01A-11D-2154-08	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	1	0	1	88	459	0	132	1	9.921704e-01	9	32	0	132	2		0	0	0	0	0	2	1	1	87	455	0	130	2								-3.323453	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCAPG2	54892	broad.mit.edu	37	7	158473475	158473475	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158473475G>A	ENST00000409423.1	-	11	1130	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W|NCAPG2_ENST00000409339.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2			39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)		ACTCCCTGCCGAACTTTCTTT	0.323000																								0							SO:0001583	missense			ENST00000409423.1	1	1	hg19	CCDS43686.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.22	2.768352	0.49680	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.22	5.22	0.72569	Armadillo-type fold (1);	0.297322	0.37261	N	0.002179	T	0.67325	0.2881	L	0.57536	1.79	0.47737	D	0.999508	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.69658	-0.5086	10	0.87932	D	0	-20.4179	19.1636	0.93544	0.0:0.0:1.0:0.0	.	320;112;320	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	W	320;320;112;320;320	ENSP00000348657:R320W;ENSP00000386569:R320W;ENSP00000275830:R112W;ENSP00000387007:R320W;ENSP00000388326:R320W	ENSP00000275830:R112W	R	-	1	2	NCAPG2	158166236	1.000000	0.71417	0.187000	0.23214	0.144000	0.21451	5.086000	0.64474	2.590000	0.87494	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	1	0	0	29	368	0	61	1	6.769283e-01	2	29	0	61	2		0	0	0	0	0	2	1	1	29	365	0	61	2								-2.966610	1	1	120780	2	37	1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.820000	0.560000	1.000000	1.000000	0.826391	0.820000	0	6.800000e-01	9.800000e-01
ESYT2	57488	broad.mit.edu	37	7	158534454	158534454	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158534454C>T	ENST00000251527.5	-	17	2074	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2			32					TGTGTTGCTGCCACCAGGGCC	0.572000																								0							SO:0001583	missense			ENST00000251527.5	1	1	hg19	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.315979	0.01331	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.19669	2.13;2.13;2.53	5.51	2.48	0.30137	.	0.993034	0.08196	N	0.983139	T	0.07728	0.0194	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.39981	-0.9587	10	0.12430	T	0.62	-26.6989	6.1546	0.20330	0.0:0.4376:0.3875:0.1749	.	670;698	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	670;719;661;105;105;494	ENSP00000251527:G670D;ENSP00000275418:G661D;ENSP00000411488:G105D	ENSP00000251527:G670D	G	-	2	0	ESYT2	158227215	0.005000	0.15991	0.001000	0.08648	0.010000	0.07245	1.079000	0.30766	0.614000	0.30107	0.650000	0.86243	GGC		TCGA-IB-7651-01A-11D-2154-08	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	1	0	1	57	276	0	63	1	1	81	273	0	63	2		0	0	0	0	0	2	1	1	56	273	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
WDR60	55112	broad.mit.edu	37	7	158672615	158672615	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158672615C>T	ENST00000407559.3	+	5	972	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60			35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)		TGATGAGAGGCACCAAAGCAA	0.423000																								0							SO:0001583	missense			ENST00000407559.3	1	1	hg19	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779189	0.49891	.	.	ENSG00000126870	ENST00000407559	T	0.24151	1.87	4.73	3.83	0.44106	.	0.534306	0.18461	N	0.140511	T	0.12135	0.0295	N	0.24115	0.695	0.09310	N	0.999998	P	0.44521	0.837	B	0.37451	0.25	T	0.12889	-1.0530	10	0.02654	T	1	-3.3053	9.3825	0.38322	0.0:0.8948:0.0:0.1052	.	272	Q8WVS4	WDR60_HUMAN	Y	272	ENSP00000384290:H272Y	ENSP00000384290:H272Y	H	+	1	0	WDR60	158365376	0.622000	0.27085	0.325000	0.25375	0.002000	0.02628	0.399000	0.20916	2.339000	0.79563	0.655000	0.94253	CAC		TCGA-IB-7651-01A-11D-2154-08	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	1	0	1	55	168	0	44	1	9.993308e-01	11	26	0	44	2		0	0	0	0	0	2	1	1	56	165	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
WDR60	55112	broad.mit.edu	37	7	158677270	158677270	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158677270A>C	ENST00000407559.3	+	6	1053	c.895A>C	c.(895-897)Aat>Cat	p.N299H		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60			35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)		TGAACACAGAAATCGAGGTGC	0.423000																								0							SO:0001583	missense			ENST00000407559.3	1	1	hg19	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	2.941	-0.218884	0.06101	.	.	ENSG00000126870	ENST00000407559	T	0.22945	1.93	4.31	1.86	0.25419	.	0.412908	0.23791	N	0.044526	T	0.11067	0.0270	N	0.17082	0.46	0.19300	N	0.99998	B	0.06786	0.001	B	0.04013	0.001	T	0.33189	-0.9878	10	0.10377	T	0.69	-9.2587	4.4363	0.11552	0.6918:0.2006:0.1076:0.0	.	299	Q8WVS4	WDR60_HUMAN	H	299	ENSP00000384290:N299H	ENSP00000384290:N299H	N	+	1	0	WDR60	158370031	0.121000	0.22262	0.392000	0.26245	0.108000	0.19459	0.617000	0.24359	0.155000	0.19261	0.496000	0.49642	AAT		TCGA-IB-7651-01A-11D-2154-08	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	1	0	0	11	131	0	28	1	7.680719e-01	7	28	0	28	2		0	0	0	0	0	2	1	9.982954e-01	10	128	0	28	2								-15.977360	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.870000	0.470000	1.000000	1.000000	0.841782	0.870000	1	6.500000e-01	1
VIPR2	7434	broad.mit.edu	37	7	158835849	158835849	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158835849C>T	ENST00000262178.2	-	6	659	c.474G>A	c.(472-474)agG>agA	p.R158R	VIPR2_ENST00000402066.1_Silent_p.R299R|VIPR2_ENST00000377633.3_Silent_p.R142R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2			22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)		GGATGTAATTCCTGGTGCAGT	0.557000													Pancreas(154;1876 1931 2329 17914 20079)											0							SO:0001819	synonymous_variant			ENST00000262178.2	1	1	hg19	CCDS5950.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	1	0	1	31	138	0	45	0	3.590371e-02	0	2	0	45	2		0	0	0	0	0	2	1	1	29	132	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	0.999951	0.990000	1	9.900000e-01	1
VIPR2	7434	broad.mit.edu	37	7	158851209	158851209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158851209A>G	ENST00000262178.2	-	5	603	c.418T>C	c.(418-420)Tct>Cct	p.S140P	VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P|VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2			22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)		GTTGCAAGAGACATCAGAGAG	0.408000													Pancreas(154;1876 1931 2329 17914 20079)											0							SO:0001583	missense			ENST00000262178.2	1	1	hg19	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.050923	0.75960	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.37915	1.17;1.17;1.17	5.7	4.59	0.56863	GPCR, family 2-like (1);	0.122369	0.36066	N	0.002805	T	0.49047	0.1534	M	0.89968	3.075	0.80722	D	1	P	0.45078	0.85	P	0.45506	0.483	T	0.57974	-0.7718	9	.	.	.	.	8.8834	0.35389	0.7551:0.2449:0.0:0.0	.	140	P41587	VIPR2_HUMAN	P	140;124;281	ENSP00000262178:S140P;ENSP00000366860:S124P;ENSP00000384497:S281P	.	S	-	1	0	VIPR2	158543970	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	2.922000	0.48860	2.175000	0.68902	0.529000	0.55759	TCT		TCGA-IB-7651-01A-11D-2154-08	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	1	0	1	105	528	0	117	0	0	0	1	0	117	2		0	0	0	0	0	2	1	1	105	517	0	117	2								-20.000000	1	1	0	0		1	0	0	0	1.922693	0	0.170000	2.060000	1.377519e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM184A	202915	broad.mit.edu	37	7	1590537	1590537	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590537C>T	ENST00000297477.5	-	3	617	c.301G>A	c.(301-303)Gcc>Acc	p.A101T		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A			12		Ovarian(82;0.0253)			GAGTCGAAGGCGTAGATGGGC	0.622000																								0							SO:0001583	missense			ENST00000297477.5	1	1	hg19	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807201	0.70797	4.54E-4	0.0	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.05	3.08	0.35506	.	0.129788	0.51477	U	0.000089	T	0.66499	0.2795	M	0.87328	2.875	0.80722	D	1	P	0.51057	0.941	P	0.46850	0.529	T	0.74328	-0.3701	10	0.66056	D	0.02	-7.3466	12.4568	0.55708	0.4328:0.5672:0.0:0.0	.	101	Q6ZMB5	T184A_HUMAN	T	101	ENSP00000297477:A101T;ENSP00000325945:A101T;ENSP00000398382:A101T;ENSP00000389092:A101T;ENSP00000403499:A101T	ENSP00000297477:A101T	A	-	1	0	TMEM184A	1557063	0.998000	0.40836	0.957000	0.39632	0.801000	0.45260	3.733000	0.55029	1.091000	0.41335	0.407000	0.27541	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	1	0	1	61	203	0	48	1	9.858805e-01	11	14	0	48	2		0	0	0	0	0	2	1	1	59	200	0	48	2								-20.000000	1	0	121384	5	41	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM184A	202915	broad.mit.edu	37	7	1590563	1590563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590563C>T	ENST00000297477.5	-	3	591	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A			12		Ovarian(82;0.0253)			GAGGAGCAGGCGGATGATGTA	0.627000																								0							SO:0001583	missense			ENST00000297477.5	1	1	hg19	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575764	0.65878	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.15	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.81346	0.4803	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87494	0.2429	10	0.87932	D	0	-5.0589	13.7268	0.62763	0.0:0.9248:0.0:0.0752	.	92	Q6ZMB5	T184A_HUMAN	H	92	ENSP00000297477:R92H;ENSP00000325945:R92H;ENSP00000398382:R92H;ENSP00000389092:R92H;ENSP00000403499:R92H	ENSP00000297477:R92H	R	-	2	0	TMEM184A	1557089	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.651000	0.83577	1.166000	0.42689	0.407000	0.27541	CGC		TCGA-IB-7651-01A-11D-2154-08	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	1	0	1	33	196	0	38	1	9.199151e-01	7	21	0	38	2		0	0	0	0	0	2	1	1	33	193	0	38	2								-20.000000	1	0	121374	3	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999922	0.990000	1	9.900000e-01	1
TSPAN13	27075	broad.mit.edu	37	7	16818722	16818722	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16818722T>C	ENST00000262067.4	+	5	954	c.521T>C	c.(520-522)cTg>cCg	p.L174P		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13			7	Lung NSC(10;0.0494)|all_lung(11;0.109)				GGCATTGGCCTGTTCTTCAGT	0.423000																								0							SO:0001583	missense			ENST00000262067.4	1	1	hg19	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957719	0.73902	.	.	ENSG00000106537	ENST00000262067	D	0.82984	-1.67	5.75	4.58	0.56647	.	0.172861	0.52532	D	0.000066	D	0.90920	0.7146	M	0.86651	2.83	0.80722	D	1	D	0.63046	0.992	D	0.64321	0.924	D	0.91774	0.5430	10	0.87932	D	0	-10.9269	13.1148	0.59294	0.0:0.0:0.1338:0.8662	.	174	O95857	TSN13_HUMAN	P	174	ENSP00000262067:L174P	ENSP00000262067:L174P	L	+	2	0	TSPAN13	16785247	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.994000	0.88315	0.984000	0.38629	0.459000	0.35465	CTG		TCGA-IB-7651-01A-11D-2154-08	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	1	0	1	54	191	0	42	1	1	107	240	0	42	2		0	0	0	0	0	2	1	1	54	182	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGR2	10551	broad.mit.edu	37	7	16834575	16834575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16834575C>T	ENST00000419304.2	-	7	615	c.463G>A	c.(463-465)Gca>Aca	p.A155T	AGR2_ENST00000419572.2_Missense_Mutation_p.A175T|AGR2_ENST00000401412.1_Missense_Mutation_p.A155T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2			6	Lung NSC(10;0.0376)|all_lung(11;0.0855)				GCTGTATCTGCAGGTTCGTAA	0.448000																								0							SO:0001583	missense			ENST00000419304.2	1	1	hg19	CCDS5364.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514783	0.27123	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412	.	.	.	5.65	0.0928	0.14474	.	0.354493	0.28104	N	0.016599	T	0.27384	0.0672	L	0.46157	1.445	0.28199	N	0.927427	B	0.02656	0.0	B	0.01281	0.0	T	0.09729	-1.0661	9	0.35671	T	0.21	-13.2225	2.4542	0.04525	0.4416:0.2555:0.0657:0.2372	.	155	O95994	AGR2_HUMAN	T	155;85;175;155	.	ENSP00000386025:A155T	A	-	1	0	AGR2	16801100	0.444000	0.25649	0.856000	0.33681	0.597000	0.36814	0.228000	0.17814	0.082000	0.17018	-2.055000	0.00403	GCA		TCGA-IB-7651-01A-11D-2154-08	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	1	0	1	39	212	0	45	1	1	308	873	0	45	2		0	0	0	0	0	2	1	1	38	210	0	45	2								-19.697090	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
SNX13	23161	broad.mit.edu	37	7	17838675	17838675	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17838675G>T	ENST00000409389.1	-	23	2606	c.2434C>A	c.(2434-2436)Ctt>Att	p.L812I	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.L801I			Q9Y5W8	SNX13_HUMAN	sorting nexin 13			38	Lung NSC(10;0.0261)|all_lung(11;0.0521)				AGCTGTTGAAGTAGGTTTTTG	0.363000																								0							SO:0001583	missense			ENST00000409389.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	33	5.239787	0.95240	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.35789	1.29;1.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.75264	2.295	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.996	D;D;D	0.68943	0.961;0.941;0.929	T	0.58335	-0.7654	10	0.39692	T	0.17	-15.0832	19.8167	0.96571	0.0:0.0:1.0:0.0	.	598;812;801	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	I	812;801;849	ENSP00000386705:L812I;ENSP00000398789:L801I	ENSP00000242044:L849I	L	-	1	0	SNX13	17805200	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.330000	0.96422	2.679000	0.91253	0.563000	0.77884	CTT		TCGA-IB-7651-01A-11D-2154-08	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	1	0	1	55	274	0	91	1	9.998617e-01	14	54	0	91	2		0	0	0	0	0	2	1	1	55	265	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX13	23161	broad.mit.edu	37	7	17841237	17841237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17841237G>A	ENST00000409389.1	-	22	2477	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13			38	Lung NSC(10;0.0261)|all_lung(11;0.0521)				GCCGAAACTCGGCGATGTTCA	0.338000																								0							SO:0001587	stop_gained			ENST00000409389.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	41	8.625400	0.98890	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.7544	15.5809	0.76439	0.066:0.0:0.934:0.0	.	.	.	.	X	769;758;806	.	ENSP00000242044:R806X	R	-	1	2	SNX13	17807762	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.808000	0.75206	1.574000	0.49760	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	1	0	1	15	65	0	23	1	9.998657e-01	5	69	0	23	2		0	0	0	0	0	2	1	9.999106e-01	14	64	0	23	2								-3.389607	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999671	0.990000	1	9.900000e-01	1
SNX13	23161	broad.mit.edu	37	7	17874457	17874457	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17874457A>G	ENST00000409389.1	-	14	1563	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	SNX13_ENST00000428135.3_Missense_Mutation_p.L464S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13			38	Lung NSC(10;0.0261)|all_lung(11;0.0521)				TTTTGCTACTAAATAGTCATC	0.299000																								0							SO:0001583	missense			ENST00000409389.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.31	2.200319	0.38905	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.02446	4.29;4.29	5.04	5.04	0.67666	.	0.143577	0.49305	D	0.000153	T	0.02767	0.0083	N	0.11427	0.14	0.80722	D	1	B;P;P	0.41498	0.247;0.752;0.576	B;B;B	0.42625	0.098;0.393;0.119	T	0.65672	-0.6111	10	0.42905	T	0.14	-7.5475	15.076	0.72077	1.0:0.0:0.0:0.0	.	261;464;464	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	S	464;464;512	ENSP00000386705:L464S;ENSP00000398789:L464S	ENSP00000242044:L512S	L	-	2	0	SNX13	17840982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.584000	0.60971	2.026000	0.59711	0.402000	0.26972	TTA		TCGA-IB-7651-01A-11D-2154-08	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	1	0	1	15	130	0	33	1	9.377188e-01	2	42	0	33	2		0	0	0	0	0	2	1	9.998900e-01	15	128	0	33	2								-19.997180	1	1	120610	1	25	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.730000	1.000000	1.000000	0.974243	0.990000	1	9.600000e-01	1
SNX13	23161	broad.mit.edu	37	7	17915361	17915361	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17915361A>C	ENST00000409389.1	-	6	665	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	SNX13_ENST00000428135.3_Missense_Mutation_p.F165V			Q9Y5W8	SNX13_HUMAN	sorting nexin 13			38	Lung NSC(10;0.0261)|all_lung(11;0.0521)				TGTGTGCCAAAGTCATCTACA	0.313000																								0							SO:0001583	missense			ENST00000409389.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.29	3.080667	0.55753	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.16457	2.34;2.6	5.5	5.5	0.81552	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	L	0.52905	1.665	0.80722	D	1	P;B;P	0.37207	0.587;0.437;0.459	B;B;B	0.42319	0.383;0.349;0.264	T	0.02026	-1.1227	10	0.05620	T	0.96	-15.2192	15.6101	0.76710	1.0:0.0:0.0:0.0	.	165;165;165	Q9Y5W8;B8ZZT9;Q9Y5W8-2	SNX13_HUMAN;.;.	V	165;165;213	ENSP00000386705:F165V;ENSP00000398789:F165V	ENSP00000242044:F213V	F	-	1	0	SNX13	17881886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.472000	0.90407	2.074000	0.62210	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	1	0	1	17	89	0	25	1	9.933038e-01	11	36	0	25	2		0	0	0	0	0	2	1	9.999733e-01	17	87	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999382	0.990000	1	9.900000e-01	1
PRPS1L1	221823	broad.mit.edu	37	7	18066654	18066654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18066654C>A	ENST00000506618.2	-	1	832	c.752G>T	c.(751-753)gGa>gTa	p.G251V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1			18	Lung NSC(10;0.0385)|all_lung(11;0.0736)				AGAAAAGATTCCATGAGTCAA	0.458000																								0							SO:0001583	missense			ENST00000506618.2	1	1	hg19	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757981	0.49468	.	.	ENSG00000229937	ENST00000506618	D	0.82893	-1.66	4.44	4.44	0.53790	.	.	.	.	.	D	0.94696	0.8289	H	0.98754	4.32	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.96343	0.9252	8	0.66056	D	0.02	.	14.9557	0.71110	0.0:1.0:0.0:0.0	.	251	P21108	PRPS3_HUMAN	V	251	ENSP00000424595:G251V	ENSP00000424595:G251V	G	-	2	0	PRPS1L1	18033179	1.000000	0.71417	0.845000	0.33349	0.246000	0.25737	7.115000	0.77110	2.482000	0.83794	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	1	0	1	83	406	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	81	400	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRPS1L1	221823	broad.mit.edu	37	7	18067034	18067034	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18067034G>A	ENST00000506618.2	-	1	452	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1			18	Lung NSC(10;0.0385)|all_lung(11;0.0736)				CCATGGTGATGATATGATCCG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000506618.2	1	1	hg19	CCDS47552.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	0	0	1	125	510	1	101		0	0	0	1	101	2		0	0	0	0	0	2	1	1	122	502	1	98	21								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDAC9	9734	broad.mit.edu	37	7	18630049	18630049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18630049G>A	ENST00000432645.2	+	3	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K	HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000406451.4_Missense_Mutation_p.E116K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9			82	all_lung(11;0.187)			Valproic Acid(DB00313)	ACAGGAAGTAGAGAGGCATCG	0.483000																								0							SO:0001583	missense			ENST00000432645.2	1	1	hg19	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	36	5.814642	0.96982	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62941	0.54;0.44;0.54;0.62;0.11;0.6;0.49;-0.01;0.11;0.08;0.44;0.6;0.63	5.75	5.75	0.90469	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000007	T	0.79287	0.4420	M	0.68317	2.08	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.623;0.997;0.997;0.996;0.996;0.999;0.999;0.996;0.998;0.997	D;D;D;P;D;D;D;D;D;D;D;D;D	0.85130	0.994;0.996;0.99;0.739;0.994;0.992;0.99;0.99;0.997;0.995;0.99;0.994;0.994	T	0.78912	-0.2017	10	0.56958	D	0.05	-16.8947	19.9433	0.97172	0.0:0.0:1.0:0.0	.	85;88;116;147;158;119;119;119;116;88;116;116;138	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	K	158;161;119;119;116;116;116;147;119;116;119;85;88;85;116	ENSP00000401669:E158K;ENSP00000412497:E119K;ENSP00000392564:E119K;ENSP00000384382:E116K;ENSP00000384657:E116K;ENSP00000395655:E116K;ENSP00000384017:E147K;ENSP00000383912:E119K;ENSP00000410337:E116K;ENSP00000408617:E119K;ENSP00000404763:E85K;ENSP00000388568:E88K;ENSP00000430036:E85K	ENSP00000262069:E161K	E	+	1	0	HDAC9	18596574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.066000	0.93949	2.716000	0.92895	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1	18	48	0	18	1	9.851381e-01	4	18	0	18	2		0	0	0	0	0	2	1	9.999940e-01	18	48	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
HDAC9	9734	broad.mit.edu	37	7	18631230	18631230	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18631230T>C	ENST00000432645.2	+	4	498	c.498T>C	c.(496-498)aaT>aaC	p.N166N	HDAC9_ENST00000406072.1_Silent_p.N197N|HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000441542.2_Silent_p.N169N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000405010.3_Silent_p.N166N|HDAC9_ENST00000401921.1_Silent_p.N169N|HDAC9_ENST00000406451.4_Silent_p.N166N|HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000417496.2_Silent_p.N208N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9			82	all_lung(11;0.187)			Valproic Acid(DB00313)	ATGGAAAAAATCATTCCGTGA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000432645.2	1	1	hg19	CCDS47555.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	0	13	167	0	37	0	4.027915e-01	1	17	0	37	2		0	0	0	0	0	2	1	9.995130e-01	13	162	0	37	2								-17.918400	1	1	120862	9	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.880000	0.490000	1.000000	1.000000	0.848308	0.880000	1	6.600000e-01	1
HDAC9	9734	broad.mit.edu	37	7	18687510	18687510	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18687510A>G	ENST00000432645.2	+	9	1129	c.1129A>G	c.(1129-1131)Agc>Ggc	p.S377G	HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G|HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G|HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000406451.4_Missense_Mutation_p.S377G|HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9			82	all_lung(11;0.187)			Valproic Acid(DB00313)	GGCATCTTCCAGCCACCCTCA	0.502000																								0							SO:0001583	missense			ENST00000432645.2	1	1	hg19	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	4.986	0.183198	0.09495	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.57907	0.95;0.97;0.38;0.96;0.96;0.37;0.37;0.38;0.96;0.96	5.64	3.28	0.37604	.	0.269718	0.32640	N	0.005823	T	0.30198	0.0757	N	0.16656	0.425	0.23386	N	0.997783	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.001;0.0;0.001;0.0;0.002;0.001;0.0;0.0;0.001;0.0;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.001;0.0;0.002;0.0;0.002;0.001;0.0;0.0;0.001;0.001;0.001	T	0.11966	-1.0566	10	0.20519	T	0.43	-15.7169	6.3135	0.21178	0.7234:0.1346:0.142:0.0	.	300;349;377;364;375;377;380;336;380;377;349;377;377;355	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	G	375;378;377;377;333;364;336;377;380;349;300;377	ENSP00000401669:S375G;ENSP00000384382:S377G;ENSP00000384657:S377G;ENSP00000395655:S333G;ENSP00000384017:S364G;ENSP00000383912:S336G;ENSP00000410337:S377G;ENSP00000408617:S380G;ENSP00000388568:S349G;ENSP00000430036:S300G	ENSP00000262069:S378G	S	+	1	0	HDAC9	18654035	0.128000	0.22383	0.970000	0.41538	0.081000	0.17604	0.574000	0.23714	0.963000	0.38082	0.477000	0.44152	AGC		TCGA-IB-7651-01A-11D-2154-08	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1	16	91	0	20	0	7.173913e-01	0	16	0	20	2		0	0	0	0	0	2	1	9.999501e-01	16	89	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998577	0.990000	1	9.900000e-01	1
HDAC9	9734	broad.mit.edu	37	7	18801889	18801889	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18801889G>T	ENST00000432645.2	+	14	2144	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M|HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M|HDAC9_ENST00000406451.4_Missense_Mutation_p.R715M	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9			82	all_lung(11;0.187)			Valproic Acid(DB00313)	CTGGACCCCAGGATACTCCTA	0.507000																								0							SO:0001583	missense			ENST00000432645.2	1	1	hg19	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796699	0.70567	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.56	5.56	0.83823	Histone deacetylase domain (2);	0.076195	0.56097	D	0.000031	T	0.72326	0.3446	L	0.53729	1.69	0.80722	D	1	P;P;P;P;P;P	0.47191	0.63;0.891;0.891;0.801;0.891;0.801	B;P;P;P;P;P	0.53988	0.205;0.621;0.621;0.739;0.621;0.628	T	0.72357	-0.4318	10	0.51188	T	0.08	-18.5514	13.1596	0.59537	0.0732:0.0:0.9268:0.0	.	715;674;718;715;715;693	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	M	715;674;715;718;627	ENSP00000384657:R715M;ENSP00000383912:R674M;ENSP00000410337:R715M;ENSP00000408617:R718M	ENSP00000339165:R627M	R	+	2	0	HDAC9	18768414	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.175000	0.58263	2.776000	0.95493	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1	25	109	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	9.999999e-01	25	108	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
TWISTNB	221830	broad.mit.edu	37	7	19744544	19744544	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19744544C>T	ENST00000222567.5	-	2	325		c.e2-1		MIR3146_ENST00000580367.1_RNA	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor			20					ACCTAAAAGGCTGTAAAAAGA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000222567.5	1	1	hg19	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533348	0.45073	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3533	0.90345	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TWISTNB	19711069	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.716000	0.74702	2.531000	0.85337	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1	1	0	1	42	207	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1	41	204	0	72	2								-19.998650	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TWISTNB	221830	broad.mit.edu	37	7	19748552	19748552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19748552C>A	ENST00000222567.5	-	1	158	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor			20					GTCGGCAACTCTAGGCAAGGC	0.652000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001587	stop_gained			ENST00000222567.5	0	1	hg19	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695929	0.68386	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	2.07	0.26955	.	0.257680	0.31636	N	0.007320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.8129	9.31	0.37898	0.0:0.6893:0.2205:0.0901	.	.	.	.	X	30	.	ENSP00000222567:E30X	E	-	1	0	TWISTNB	19715077	0.720000	0.27996	0.579000	0.28588	0.173000	0.22820	2.198000	0.42705	1.046000	0.40249	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1	1	0	0	15	233	0	56	0	1.337039e-01	0	10	0	56	2		0	0	0	0	0	2	1	9.998586e-01	13	228	0	55	2								-18.343260	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.730000	0.420000	1.000000	1.000000	0.749203	0.730000	0	5.600000e-01	9.700000e-01
TMEM196	256130	broad.mit.edu	37	7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19765216C>T	ENST00000405764.3	-	3	1076	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_ENST00000405844.1_Missense_Mutation_p.R127Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196			6					ACTGGCTAGTCGACAAGTGAG	0.498000																								0							SO:0001583	missense			ENST00000405764.3	1	1	hg19	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983704	0.93044	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.70506	-0.4853	9	0.87932	D	0	13.2727	19.794	0.96471	0.0:1.0:0.0:0.0	.	127	Q5HYL7-4	.	Q	127;127;59;59;59	.	ENSP00000384234:R127Q	R	-	2	0	TMEM196	19731741	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.678000	0.91216	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	1	0	1	135	203	0	64	0	1.597640e-01	0	2	0	64	2		0	0	0	0	0	2	1	1	133	202	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MACC1	346389	broad.mit.edu	37	7	20199174	20199174	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20199174G>A	ENST00000400331.5	-	5	1118	c.810C>T	c.(808-810)agC>agT	p.S270S	MACC1_ENST00000332878.4_Silent_p.S270S|MACC1_ENST00000589011.1_Silent_p.S270S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1			39					CCAACAACGGGCTCACAGTGC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000400331.5	1	1	hg19	CCDS5369.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	1	0	1	56	238	0	68	0	3.760579e-02	1	1	0	68	2		0	0	0	0	0	2	1	1	54	234	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAD1L1	8379	broad.mit.edu	37	7	2041733	2041733	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2041733C>A	ENST00000406869.1	-	14	1940	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E369D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)			36		Ovarian(82;0.0272)			CTCCCAGCTCCTCCAGGGCCT	0.627000																								0							SO:0001583	missense			ENST00000406869.1	1	1	hg19	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953479	0.73902	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000438959;ENST00000444373	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.51	2.23	0.28157	.	0.112010	0.64402	D	0.000014	T	0.36386	0.0965	L	0.55834	1.745	0.34495	D	0.705382	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.66716	0.946;0.946;0.926	T	0.44143	-0.9347	10	0.37606	T	0.19	-36.0481	5.5262	0.16959	0.0:0.5627:0.0:0.4373	.	460;369;461	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	D	369;461;461;461;128;51	ENSP00000384155:E369D;ENSP00000382562:E461D;ENSP00000385334:E461D;ENSP00000265854:E461D;ENSP00000414877:E128D;ENSP00000393037:E51D	ENSP00000265854:E461D	E	-	3	2	MAD1L1	2008259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.347000	0.20014	0.664000	0.31047	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	1	0	1	213	875	0	199	1	1	46	78	0	199	2		0	0	0	0	0	2	1	1	207	857	0	197	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB8	3696	broad.mit.edu	37	7	20418715	20418715	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418715A>G	ENST00000222573.4	+	4	1114	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8			37					TCCTCTGAAGAAATATCCTGT	0.308000																								0							SO:0001583	missense			ENST00000222573.4	1	1	hg19	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785427	0.49997	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.91996	-2.95;-2.95	5.42	4.25	0.50352	Integrin beta subunit, N-terminal (2);	0.067674	0.64402	D	0.000011	D	0.85423	0.5693	N	0.17082	0.46	0.36197	D	0.850466	B;B	0.27286	0.034;0.174	B;B	0.29942	0.068;0.109	D	0.83988	0.0336	10	0.41790	T	0.15	-20.749	12.8016	0.57588	0.863:0.137:0.0:0.0	.	144;144	P26012;Q9BUG9	ITB8_HUMAN;.	E	9;144	ENSP00000441561:K9E;ENSP00000222573:K144E	ENSP00000222573:K144E	K	+	1	0	ITGB8	20385240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	0.972000	0.38314	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	1	0	1	80	306	0	74	1	7.447836e-01	4	8	0	74	2		0	0	0	0	0	2	1	1	80	304	0	74	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB8	3696	broad.mit.edu	37	7	20418775	20418775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418775G>A	ENST00000222573.4	+	4	1174	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8			37					CAATAATATAGAAAAATTAAA	0.343000																								0							SO:0001583	missense			ENST00000222573.4	1	1	hg19	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924418	0.73213	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97731	-4.51;-4.51	5.82	5.82	0.92795	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.071807	0.64402	D	0.000019	D	0.97851	0.9294	L	0.45698	1.435	0.38694	D	0.952837	D;D	0.63046	0.992;0.984	P;P	0.60886	0.88;0.761	D	0.98122	1.0426	10	0.37606	T	0.19	-27.1312	20.0956	0.97842	0.0:0.0:1.0:0.0	.	164;164	P26012;Q9BUG9	ITB8_HUMAN;.	K	29;164	ENSP00000441561:E29K;ENSP00000222573:E164K	ENSP00000222573:E164K	E	+	1	0	ITGB8	20385300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.158000	0.58150	2.746000	0.94184	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	1	0	1	49	250	0	63	1	6.559135e-01	5	8	0	63	2		0	0	0	0	0	2	1	1	49	248	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ITGB8	3696	broad.mit.edu	37	7	20420382	20420382	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20420382A>C	ENST00000222573.4	+	5	1413	c.729A>C	c.(727-729)agA>agC	p.R243S	ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8			37					CAGTTCATAGACAGAAGATCT	0.443000																								0							SO:0001583	missense			ENST00000222573.4	1	1	hg19	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667596	0.47677	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97620	-4.46;-4.46	6.07	4.92	0.64577	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.069216	0.64402	D	0.000010	D	0.92698	0.7679	L	0.28608	0.87	0.38344	D	0.944144	B;B	0.09022	0.001;0.002	B;B	0.12156	0.006;0.007	D	0.88415	0.3024	10	0.62326	D	0.03	.	5.2764	0.15651	0.7337:0.0:0.1326:0.1337	.	243;243	P26012;Q9BUG9	ITB8_HUMAN;.	S	108;243	ENSP00000441561:R108S;ENSP00000222573:R243S	ENSP00000222573:R243S	R	+	3	2	ITGB8	20386907	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.664000	0.37439	1.103000	0.41568	-0.301000	0.09380	AGA		TCGA-IB-7651-01A-11D-2154-08	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	1	0	0	42	382	0	97	1	6.823983e-01	4	19	0	97	2		0	0	0	0	0	2	1	1	41	377	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.989872	0.990000	1	9.900000e-01	1
ABCB5	340273	broad.mit.edu	37	7	20682918	20682918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682918G>T	ENST00000404938.2	+	6	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5			77					TTCGAAAACAGTTTTTTCATT	0.408000																								0							SO:0001583	missense			ENST00000404938.2	1	1	hg19	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291353	0.05568	.	.	ENSG00000004846	ENST00000404938	D	0.90004	-2.6	3.75	2.67	0.31697	.	.	.	.	.	T	0.73001	0.3531	N	0.12637	0.245	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.59904	-0.7366	9	0.14252	T	0.57	.	3.2368	0.06767	0.174:0.0:0.5888:0.2372	.	142	A7BKA4	.	H	142	ENSP00000384881:Q142H	ENSP00000384881:Q142H	Q	+	3	2	ABCB5	20649443	0.173000	0.23056	1.000000	0.80357	0.452000	0.32318	0.437000	0.21543	0.917000	0.36895	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1	36	159	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	35	154	0	31	2								-19.976700	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCB5	340273	broad.mit.edu	37	7	20682938	20682938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682938C>A	ENST00000404938.2	+	6	1098	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5			77					TCAGTTTTGGCACAGGACATC	0.408000																								0							SO:0001583	missense			ENST00000404938.2	1	1	hg19	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441668	0.25900	.	.	ENSG00000004846	ENST00000404938	D	0.88509	-2.39	3.75	3.75	0.43078	.	.	.	.	.	D	0.85217	0.5646	L	0.43152	1.355	0.80722	D	1	P	0.36171	0.541	B	0.36608	0.229	D	0.87183	0.2229	9	0.87932	D	0	.	13.867	0.63594	0.0:1.0:0.0:0.0	.	149	A7BKA4	.	E	149	ENSP00000384881:A149E	ENSP00000384881:A149E	A	+	2	0	ABCB5	20649463	0.898000	0.30612	0.873000	0.34254	0.154000	0.21943	1.722000	0.38042	2.398000	0.81561	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1	32	196	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	32	188	0	39	2								-15.955340	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999858	0.990000	1	9.900000e-01	1
ABCB5	340273	broad.mit.edu	37	7	20683249	20683249	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20683249T>C	ENST00000404938.2	+	7	1324	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5			77					CGGCAGCATGTTCTAGGGTAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000404938.2	0	1	hg19	CCDS55090.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	0	19	185	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999914e-01	19	181	0	18	2								-8.655276	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.959706	0.990000	1	8.900000e-01	1
ABCB5	340273	broad.mit.edu	37	7	20795190	20795190	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20795190G>A	ENST00000404938.2	+	28	4369	c.3717G>A	c.(3715-3717)gaG>gaA	p.E1239E	ABCB5_ENST00000258738.6_Silent_p.E794E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5			77					CTCATCAAGAGCTCCTGAGAA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000404938.2	1	1	hg19	CCDS55090.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1	51	213	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	51	211	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SP4	6671	broad.mit.edu	37	7	21521598	21521598	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21521598G>A	ENST00000222584.3	+	5	2182	c.1964G>A	c.(1963-1965)gGt>gAt	p.G655D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor			35					GAAGGATGTGGTAAAGTTTAT	0.373000																								0							SO:0001583	missense			ENST00000222584.3	1	1	hg19	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316989	0.95682	.	.	ENSG00000105866	ENST00000222584	T	0.49139	0.79	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	M	0.81341	2.54	0.80722	D	1	D	0.61697	0.99	P	0.61070	0.883	T	0.73707	-0.3898	10	0.72032	D	0.01	.	19.3343	0.94309	0.0:0.0:1.0:0.0	.	655	Q02446	SP4_HUMAN	D	655	ENSP00000222584:G655D	ENSP00000222584:G655D	G	+	2	0	SP4	21488123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.567000	0.86603	0.591000	0.81541	GGT		TCGA-IB-7651-01A-11D-2154-08	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	1	0	1	96	475	0	88	1	8.292093e-01	2	16	0	88	2		0	0	0	0	0	2	1	1	92	469	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH11	8701	broad.mit.edu	37	7	21630818	21630818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21630818G>A	ENST00000409508.3	+	14	2321	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D764N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					TGGAAATCTTGACCTTCTTGT	0.383000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.76	2.034516	0.35893	.	.	ENSG00000105877	ENST00000328843	T	0.54479	0.57	5.57	5.57	0.84162	Dynein heavy chain, domain-1 (1);	0.949886	0.08876	N	0.880782	T	0.43144	0.1234	.	.	.	0.25084	N	0.990906	B	0.10296	0.003	B	0.08055	0.003	T	0.19386	-1.0307	9	0.19147	T	0.46	.	18.3291	0.90262	0.0:0.0:1.0:0.0	.	764	Q96DT5	DYH11_HUMAN	N	764	ENSP00000330671:D764N	ENSP00000330671:D764N	D	+	1	0	DNAH11	21597343	1.000000	0.71417	0.881000	0.34555	0.956000	0.61745	4.301000	0.59086	2.618000	0.88619	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1	34	179	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	33	175	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
DNAH11	8701	broad.mit.edu	37	7	21640477	21640477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21640477G>A	ENST00000409508.3	+	16	3215	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1062N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					TGTGTCTTCCGATGAAATGGA	0.433000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.36	2.212545	0.39102	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.43	5.43	0.79202	.	0.116822	0.56097	D	0.000036	T	0.17408	0.0418	.	.	.	0.49130	D	0.99975	P	0.36483	0.555	B	0.27500	0.08	T	0.02546	-1.1143	9	0.37606	T	0.19	.	18.013	0.89230	0.0:0.0:1.0:0.0	.	1062	Q96DT5	DYH11_HUMAN	N	1062	ENSP00000330671:D1062N	ENSP00000330671:D1062N	D	+	1	0	DNAH11	21607002	1.000000	0.71417	0.929000	0.37066	0.038000	0.13279	3.454000	0.52986	2.563000	0.86464	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1	133	539	0	136	0	0	0	1	0	136	2		0	0	0	0	0	2	1	1	132	533	0	135	2								-20.000000	1	1	120848	10	45	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH11	8701	broad.mit.edu	37	7	21659634	21659634	+	Nonsense_Mutation	SNP	C	C	T	rs72657321		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21659634C>T	ENST00000409508.3	+	25	4469	c.4438C>T	c.(4438-4440)Cga>Tga	p.R1480*	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1485*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					AGTTCACTATCGAACAGGCAT	0.308000									Kartagener syndrome															0							SO:0001587	stop_gained	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	45	11.304859	0.99544	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.47	3.49	0.39957	.	0.552784	0.17274	N	0.180253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9568	0.41671	0.4061:0.4847:0.1092:0.0	.	.	.	.	X	1485	.	ENSP00000330671:R1485X	R	+	1	2	DNAH11	21626159	0.089000	0.21612	1.000000	0.80357	0.935000	0.57460	0.459000	0.21908	1.231000	0.43661	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1	42	204	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	40	201	0	54	2								-3.138910	1	1	120772	1	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH11	8701	broad.mit.edu	37	7	21678582	21678582	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21678582G>A	ENST00000409508.3	+	28	4874	c.4843G>A	c.(4843-4845)Gct>Act	p.A1615T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1620T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					AAAAGCTCTCGCTGAATACCT	0.393000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	6.183	0.401934	0.11696	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.78	-1.86	0.07760	Dynein heavy chain, domain-2 (1);	0.275476	0.40302	N	0.001126	T	0.29093	0.0723	.	.	.	0.24518	N	0.994179	B	0.17038	0.02	B	0.19946	0.027	T	0.24977	-1.0145	9	0.08837	T	0.75	.	6.2056	0.20600	0.3011:0.0:0.5032:0.1957	.	1620	Q96DT5	DYH11_HUMAN	T	1620	ENSP00000330671:A1620T	ENSP00000330671:A1620T	A	+	1	0	DNAH11	21645107	0.326000	0.24669	0.004000	0.12327	0.320000	0.28249	0.739000	0.26173	-0.708000	0.05015	-2.201000	0.00304	GCT		TCGA-IB-7651-01A-11D-2154-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1	82	384	0	105	0	0	0	1	0	105	2		0	0	0	0	0	2	1	1	80	381	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAH11	8701	broad.mit.edu	37	7	21805045	21805045	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21805045G>A	ENST00000409508.3	+	55	8971		c.e55-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	p.?(1)		230					TGTCTCCACAGATCATTTTGT	0.483000									Kartagener syndrome															1	Unknown(1)						SO:0001630	splice_region_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	28.3	4.911606	0.92178	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21771570	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.582000	0.82546	2.719000	0.93026	0.555000	0.69702	.		TCGA-IB-7651-01A-11D-2154-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	1	0	0	43	564	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	43	547	0	123	2								-9.525608	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.840000	0.620000	1.000000	1.000000	0.849603	0.840000	0	7.200000e-01	1
RAPGEF5	9771	broad.mit.edu	37	7	22190035	22190035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22190035G>A	ENST00000401957.2	-	8	1212	c.965C>T	c.(964-966)gCg>gTg	p.A322V	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A472V			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5			6					CAAAGTGTCCGCCAGGTCTTT	0.468000																								0							SO:0001583	missense			ENST00000401957.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.58	1.389773	0.25118	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000401957	T;T	0.48836	1.29;0.8	5.86	5.86	0.93980	Ras guanine nucleotide exchange factor, domain (1);	0.259043	0.43919	D	0.000519	T	0.24431	0.0592	N	0.08118	0	0.31107	N	0.710363	B;P	0.38048	0.001;0.616	B;B	0.24974	0.002;0.057	T	0.11767	-1.0574	10	0.14252	T	0.57	.	17.7179	0.88343	0.0:0.0:1.0:0.0	.	322;472	Q92565;A8MQ07	RPGF5_HUMAN;.	V	472;324;322	ENSP00000343656:A472V;ENSP00000384044:A322V	ENSP00000343656:A472V	A	-	2	0	RAPGEF5	22156560	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.972000	0.49256	2.937000	0.99478	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	1	0	1	74	354	0	97	1	9.999767e-01	8	68	0	97	2		0	0	0	0	0	2	1	1	68	342	0	97	2								-3.260233	1	1	120816	6	40	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAPGEF5	9771	broad.mit.edu	37	7	22206738	22206738	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22206738C>T	ENST00000401957.2	-	2	571	c.324G>A	c.(322-324)acG>acA	p.T108T	RAPGEF5_ENST00000344041.6_Silent_p.T258T			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5			6					AGACAGTGTACGTGAGAAGGA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000401957.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	1	0	1	15	91	0	39	1	9.979630e-01	10	57	0	39	2		0	0	0	0	0	2	1	9.998918e-01	15	88	0	39	2								-3.351562	1	1	120842	7	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.980000	1.000000	1.000000	0.997261	0.990000	1	9.900000e-01	1
RAPGEF5	9771	broad.mit.edu	37	7	22233125	22233125	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22233125C>T	ENST00000401957.2	-	1	402	c.155G>A	c.(154-156)cGc>cAc	p.R52H	RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000405243.1_3'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5			6					AGACTGCGAGCGGCTGCTCCA	0.562000																								0							SO:0001583	missense			ENST00000401957.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	32	5.180529	0.94846	.	.	ENSG00000136237	ENST00000425852;ENST00000258735;ENST00000401957	T	0.59364	0.27	5.85	5.85	0.93711	.	.	.	.	.	T	0.63355	0.2504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52866	-0.8518	6	0.15952	T	0.53	.	19.7493	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	H	52	ENSP00000384044:R52H	ENSP00000258735:R52H	R	-	2	0	RAPGEF5	22199650	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.575000	0.67430	2.767000	0.95098	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	0	0	0	6	18	0	11	0	1.880342e-01	0	3	0	11	2		0	0	0	0	0	2	1	9.629299e-01	5	17	0	11	2								-14.875790	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.950000	1.000000	1.000000	0.995362	0.990000	1	9.900000e-01	1
IL6	3569	broad.mit.edu	37	7	22767180	22767180	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22767180C>A	ENST00000404625.1	+	3	596	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000401651.1_Intron|IL6_ENST00000407492.1_Intron|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q			P05231	IL6_HUMAN	interleukin 6			8				Ginseng(DB01404)	CACAGACAGCCACTCACCTCT	0.572000													Esophageal Squamous(47;342 1214 13936 33513)											0							SO:0001583	missense			ENST00000404625.1	1	1	hg19	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752806	0.31046	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;0.82;1.81;-0.81	5.2	-4.27	0.03744	Four-helical cytokine, core (1);	2.471950	0.01105	N	0.005476	T	0.56171	0.1967	N	0.12961	0.28	0.09310	N	1	B;B;B	0.27882	0.192;0.177;0.025	B;B;B	0.29267	0.1;0.053;0.012	T	0.47548	-0.9109	10	0.51188	T	0.08	11.6934	4.7642	0.13123	0.2457:0.2693:0.0:0.485	.	100;46;46	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	Q	46;46;46;100;23;46	ENSP00000385675:P46Q;ENSP00000405150:P46Q;ENSP00000258743:P46Q;ENSP00000405994:P100Q;ENSP00000384928:P23Q;ENSP00000385227:P46Q	ENSP00000258743:P46Q	P	+	2	0	IL6	22733705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.985000	0.03751	-1.066000	0.03164	-0.263000	0.10527	CCA		TCGA-IB-7651-01A-11D-2154-08	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	1	0	1	80	398	0	115	0	9.999789e-01	0	79	0	115	2		0	0	0	0	0	2	1	1	79	386	0	114	2								-3.335652	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUPL2	11097	broad.mit.edu	37	7	23236306	23236306	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23236306C>A	ENST00000258742.5	+	5	789	c.530C>A	c.(529-531)tCt>tAt	p.S177Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2			19					CAGCTAAATTCTGTCCAACGT	0.308000																								0							SO:0001583	missense			ENST00000258742.5	1	1	hg19	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253795	0.59212	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.44482	0.92;0.92	5.63	4.75	0.60458	.	0.229608	0.45361	D	0.000362	T	0.58293	0.2112	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.55140	-0.8187	10	0.39692	T	0.17	-17.8451	12.7138	0.57103	0.0:0.9202:0.0:0.0798	.	177	O15504	NUPL2_HUMAN	Y	177	ENSP00000258742:S177Y;ENSP00000401475:S177Y	ENSP00000258742:S177Y	S	+	2	0	NUPL2	23202831	0.931000	0.31567	0.957000	0.39632	0.492000	0.33523	1.810000	0.38932	2.641000	0.89580	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	1	0	1	49	198	0	56	1	9.999947e-01	14	63	0	56	2		0	0	0	0	0	2	1	1	49	191	0	56	2								-3.619841	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPNMB	10457	broad.mit.edu	37	7	23300346	23300346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23300346G>A	ENST00000381990.2	+	6	1133	c.972G>A	c.(970-972)ccG>ccA	p.P324P	GPNMB_ENST00000258733.4_Silent_p.P324P|GPNMB_ENST00000539136.1_Silent_p.P225P|GPNMB_ENST00000453162.2_Silent_p.P266P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb			41			GBM - Glioblastoma multiforme(13;0.154)		GACCTTGTCCGCCACCGCCAC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000381990.2	0	1	hg19	CCDS34610.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	0	0	0	15	758	0	152	0	1	0	2088	0	152	2		0	0	0	0	0	2	1	9.998439e-01	15	739	0	152	2								-2.041488	0	1	121400	1	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.230000	0.130000	1.000000	0.230000	0.285055	0.230000	0	1.800000e-01	3.200000e-01
IGF2BP3	10643	broad.mit.edu	37	7	23391009	23391009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391009G>A	ENST00000258729.3	-	6	954	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3			34					GGAACCAGCAGGCGCAGAGGC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000258729.3	1	1	hg19	CCDS5382.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	1	0	1	65	297	0	76	1	9.580364e-01	11	15	0	76	2		0	0	0	0	0	2	1	1	64	293	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF2BP3	10643	broad.mit.edu	37	7	23391064	23391064	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391064C>T	ENST00000258729.3	-	6	899	c.543G>A	c.(541-543)agG>agA	p.R181R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3			34					GAGACCCCTGCCTTGAGGAGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000258729.3	1	1	hg19	CCDS5382.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	1	0	1	50	241	0	61	1	8.128720e-01	8	9	0	61	2		0	0	0	0	0	2	1	1	50	237	0	60	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRA2A	29896	broad.mit.edu	37	7	23556038	23556038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23556038G>A	ENST00000297071.4	-	3	496	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)			10					CGGCTCCTTCGCCGCCGGTAT	0.443000													Pancreas(121;2137 2973 46590)											0							SO:0001587	stop_gained			ENST00000297071.4	0	1	hg19	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468558	0.96274	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.88	4.0	0.46444	.	0.058669	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.982	15.5939	0.76562	0.0:0.0:0.7503:0.2497	.	.	.	.	X	94	.	ENSP00000297071:R94X	R	-	1	2	TRA2A	23522563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.180000	0.50895	1.484000	0.48361	0.460000	0.39030	CGA		TCGA-IB-7651-01A-11D-2154-08	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	1	0	1	69	217	0	42	1	1	10	149	0	42	2		0	0	0	0	0	2	1	1	66	211	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC126	90693	broad.mit.edu	37	7	23650947	23650947	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23650947A>T	ENST00000307471.3	+	3	470	c.13A>T	c.(13-15)Atc>Ttc	p.I5F	CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126			7					GTTTTTTACAATCTCAAGAAA	0.318000																								0							SO:0001583	missense			ENST00000307471.3	1	1	hg19	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	A	9.202	1.028699	0.19512	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.65	2.92	0.33932	.	0.112631	0.64402	D	0.000009	T	0.15219	0.0367	N	0.02315	-0.6	0.37480	D	0.915954	B	0.02656	0.0	B	0.04013	0.001	T	0.30563	-0.9974	9	0.02654	T	1	-17.6699	5.3688	0.16129	0.4772:0.118:0.0:0.4048	.	5	Q96EE4	CC126_HUMAN	F	5	.	ENSP00000304355:I5F	I	+	1	0	CCDC126	23617472	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.417000	0.44653	2.150000	0.67090	0.455000	0.32223	ATC		TCGA-IB-7651-01A-11D-2154-08	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	1	0	1	60	270	0	57	1	9.868551e-01	4	29	0	57	2		0	0	0	0	0	2	1	1	58	267	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK31	56164	broad.mit.edu	37	7	23749932	23749932	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23749932G>T	ENST00000355870.3	+	1	147	c.28G>T	c.(28-30)Gct>Tct	p.A10S	STK31_ENST00000354639.3_5'Flank|STK31_ENST00000428484.1_5'Flank|STK31_ENST00000433467.2_Missense_Mutation_p.A10S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31			67					CTCTTCTAGAGCTTCCGCAAC	0.567000																								0							SO:0001583	missense			ENST00000355870.3	1	1	hg19	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	0.228	-1.022901	0.02061	.	.	ENSG00000196335	ENST00000355870;ENST00000433467	T;T	0.67698	-0.28;1.44	3.92	-0.115	0.13560	.	1.139810	0.06538	N	0.742708	T	0.44540	0.1298	N	0.08118	0	0.09310	N	1	B;B	0.22800	0.043;0.075	B;B	0.19946	0.018;0.027	T	0.34502	-0.9826	10	0.51188	T	0.08	0.3504	6.2791	0.20997	0.5233:0.0:0.4767:0.0	.	10;10	B4DZ06;Q9BXU1	.;STK31_HUMAN	S	10	ENSP00000348132:A10S;ENSP00000411852:A10S	ENSP00000348132:A10S	A	+	1	0	STK31	23716457	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.020000	0.12525	-0.036000	0.13669	-0.266000	0.10368	GCT		TCGA-IB-7651-01A-11D-2154-08	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	0	0	1	73	284	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	72	280	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK31	56164	broad.mit.edu	37	7	23775265	23775265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23775265G>A	ENST00000355870.3	+	7	711	c.592G>A	c.(592-594)Gat>Aat	p.D198N	STK31_ENST00000354639.3_Missense_Mutation_p.D175N|STK31_ENST00000428484.1_Missense_Mutation_p.D175N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D198N	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31			67					TGGCAGTGTGGATATAGGGGA	0.398000																								0							SO:0001583	missense			ENST00000355870.3	1	1	hg19	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.449376	0.84101	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.16	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	L	0.34521	1.04	0.43255	D	0.99518	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32322	-0.9911	10	0.72032	D	0.01	-19.5725	12.3752	0.55275	0.0841:0.0:0.9159:0.0	.	198;198	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	198;198;175;175	ENSP00000348132:D198N;ENSP00000411852:D198N;ENSP00000346660:D175N;ENSP00000406146:D175N	ENSP00000346660:D175N	D	+	1	0	STK31	23741790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.680000	0.61656	2.557000	0.86248	0.467000	0.42956	GAT		TCGA-IB-7651-01A-11D-2154-08	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	1	0	1	114	483	0	121	0	0	1	0	0	121	2		0	0	0	0	0	2	1	1	113	469	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STK31	56164	broad.mit.edu	37	7	23792445	23792445	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23792445A>C	ENST00000355870.3	+	9	1246	c.1127A>C	c.(1126-1128)gAa>gCa	p.E376A	STK31_ENST00000354639.3_Missense_Mutation_p.E353A|STK31_ENST00000428484.1_Missense_Mutation_p.E353A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E376A	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31			67					ATACTGAAAGAAATGAGGTAG	0.328000																								0							SO:0001583	missense			ENST00000355870.3	1	1	hg19	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375457	0.42105	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.94	3.78	0.43462	.	0.293334	0.33199	N	0.005178	T	0.18173	0.0436	M	0.64997	1.995	0.34460	D	0.701686	P;D	0.56521	0.954;0.976	B;P	0.47206	0.437;0.541	T	0.28650	-1.0037	10	0.72032	D	0.01	-14.8871	7.4108	0.27016	0.8993:0.0:0.1007:0.0	.	376;376	B4DZ06;Q9BXU1	.;STK31_HUMAN	A	376;376;353;353	ENSP00000348132:E376A;ENSP00000411852:E376A;ENSP00000346660:E353A;ENSP00000406146:E353A	ENSP00000346660:E353A	E	+	2	0	STK31	23758970	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	1.206000	0.32321	0.844000	0.35094	0.482000	0.46254	GAA		TCGA-IB-7651-01A-11D-2154-08	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	1	0	1	39	177	0	56	1	2.304817e-01	5	0	0	56	2		0	0	0	0	0	2	1	1	37	175	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPY	4852	broad.mit.edu	37	7	24325010	24325010	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24325010G>A	ENST00000407573.1	+	3	441	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	NPY_ENST00000242152.2_Missense_Mutation_p.A51T|NPY_ENST00000405982.1_Missense_Mutation_p.A51T			P01303	NPY_HUMAN	neuropeptide Y			9					ATACTACTCGGCGCTGCGACA	0.677000																								0							SO:0001583	missense			ENST00000407573.1	1	1	hg19	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062781	0.97246	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.52983	0.64;0.64;0.64	5.86	5.86	0.93980	Pancreatic hormone-like, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74575	-0.3620	9	0.72032	D	0.01	-10.8804	20.1986	0.98248	0.0:0.0:1.0:0.0	.	51	P01303	NPY_HUMAN	T	51	ENSP00000242152:A51T;ENSP00000384364:A51T;ENSP00000385282:A51T	ENSP00000242152:A51T	A	+	1	0	NPY	24291535	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.824000	0.99380	2.781000	0.95711	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	1	0	1	39	183	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	37	177	0	34	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NPY	4852	broad.mit.edu	37	7	24329150	24329150	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24329150T>G	ENST00000407573.1	+	4	511	c.221T>G	c.(220-222)aTt>aGt	p.I74S	NPY_ENST00000242152.2_Missense_Mutation_p.I74S|NPY_ENST00000405982.1_Missense_Mutation_p.I74S			P01303	NPY_HUMAN	neuropeptide Y			9					GAGACACTGATTTCAGACCTC	0.418000																								0							SO:0001583	missense			ENST00000407573.1	1	1	hg19	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508110	0.64410	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.13420	2.59;2.59;2.59	5.78	5.78	0.91487	.	0.158711	0.56097	D	0.000027	T	0.13200	0.0320	.	.	.	0.54753	D	0.999986	P	0.36683	0.565	B	0.27608	0.081	T	0.01904	-1.1250	9	0.87932	D	0	-5.3047	16.1141	0.81289	0.0:0.0:0.0:1.0	.	74	P01303	NPY_HUMAN	S	74	ENSP00000242152:I74S;ENSP00000384364:I74S;ENSP00000385282:I74S	ENSP00000242152:I74S	I	+	2	0	NPY	24295675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.979000	0.76154	2.214000	0.71695	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	0	0	1	76	316	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	76	312	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MPP6	51678	broad.mit.edu	37	7	24663381	24663381	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24663381C>A	ENST00000222644.5	+	2	345	c.95C>A	c.(94-96)cCt>cAt	p.P32H	MPP6_ENST00000409761.1_Intron|MPP6_ENST00000396475.2_Missense_Mutation_p.P32H			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)			20					ATGGAGAATCCTATTGTAAAA	0.338000																								0							SO:0001583	missense			ENST00000222644.5	1	1	hg19	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.745140	0.89663	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000396475;ENST00000430180	T;T;T;T	0.15603	2.41;3.47;3.47;2.44	5.47	5.47	0.80525	L27, C-terminal (1);L27 (2);	0.000000	0.53938	D	0.000060	T	0.47377	0.1442	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.46148	-0.9212	10	0.62326	D	0.03	.	19.7166	0.96122	0.0:1.0:0.0:0.0	.	32	Q9NZW5	MPP6_HUMAN	H	32	ENSP00000395859:P32H;ENSP00000222644:P32H;ENSP00000379737:P32H;ENSP00000391020:P32H	ENSP00000222644:P32H	P	+	2	0	MPP6	24629906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.731000	0.93534	0.637000	0.83480	CCT		TCGA-IB-7651-01A-11D-2154-08	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4	1	0	1	47	237	0	57	1	5.693408e-01	2	9	0	57	2		0	0	0	0	0	2	1	1	47	236	0	57	2								-2.594091	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DFNA5	1687	broad.mit.edu	37	7	24749866	24749866	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24749866C>T	ENST00000342947.3	-	6	1264	c.839G>A	c.(838-840)gGa>gAa	p.G280E	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000545231.1_Missense_Mutation_p.G116E|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5			19					ACTTAATGGTCCATCCTGGGA	0.512000													GBM(78;184 1250 20134 20900 23600)											0							SO:0001583	missense			ENST00000342947.3	1	1	hg19	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.35|10.35	1.326027|1.326027	0.24080|0.24080	.|.	.|.	ENSG00000105928|ENSG00000105928	ENST00000415480;ENST00000446822|ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	.|T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04	5.21|5.21	0.259|0.259	0.15583|0.15583	.|.	.|0.852240	.|0.10510	.|N	.|0.666302	T|T	0.11922|0.11922	0.0290|0.0290	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.24768	.|0.111	.|B	.|0.24701	.|0.055	T|T	0.39251|0.39251	-0.9623|-0.9623	5|10	.|0.02654	.|T	.|1	-1.1998|-1.1998	4.7256|4.7256	0.12939|0.12939	0.0:0.3958:0.2779:0.3263|0.0:0.3958:0.2779:0.3263	.|.	.|280	.|O60443	.|DFNA5_HUMAN	N|E	69;105|280;116;116;116;280	.|ENSP00000339587:G280E;ENSP00000401332:G116E;ENSP00000442661:G116E;ENSP00000387119:G116E;ENSP00000386670:G280E	.|ENSP00000339587:G280E	D|G	-|-	1|2	0|0	DFNA5|DFNA5	24716391|24716391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-0.163000|-0.163000	0.09997|0.09997	-0.270000|-0.270000	0.09285|0.09285	-0.302000|-0.302000	0.09304|0.09304	GAC|GGA		TCGA-IB-7651-01A-11D-2154-08	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	1	0	1	72	437	0	100	1	9.999925e-01	24	80	0	100	2		0	0	0	0	0	2	1	1	70	425	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSBPL3	26031	broad.mit.edu	37	7	24874243	24874243	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24874243G>A	ENST00000313367.2	-	15	2059	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OSBPL3_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000352860.1_Silent_p.I505I|OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000409069.1_Silent_p.I469I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3			43					GGTCCTTCCCGATGTTGTTCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000313367.2	1	1	hg19	CCDS5390.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2	0	0	0	15	507	0	90	1	6.638559e-01	3	74	0	90	2		0	0	0	0	0	2	1	9.998627e-01	15	502	0	89	2								-3.180231	1	1	121412	5	40	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.350000	0.200000	1.000000	0.340000	0.393891	0.350000	0	2.600000e-01	4.700000e-01
OSBPL3	26031	broad.mit.edu	37	7	24888729	24888729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24888729C>T	ENST00000313367.2	-	12	1676	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000409069.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3			43					GCGGGGGAGTCGAGGAGCAGA	0.542000																								0							SO:0001583	missense			ENST00000313367.2	1	1	hg19	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668299	0.88348	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000396431	T;T;T	0.51325	2.04;0.71;0.71	5.69	5.69	0.88448	.	0.195094	0.53938	D	0.000045	T	0.48409	0.1498	M	0.72118	2.19	0.80722	D	1	B;P	0.34724	0.382;0.465	B;B	0.26969	0.07;0.075	T	0.53570	-0.8420	10	0.59425	D	0.04	-13.7122	18.0068	0.89212	0.0:1.0:0.0:0.0	.	378;409	Q9H4L5-2;Q9H4L5	.;OSBL3_HUMAN	N	409;378;378	ENSP00000315410:D409N;ENSP00000315331:D378N;ENSP00000379708:D378N	ENSP00000315410:D409N	D	-	1	0	OSBPL3	24855254	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.073000	0.71245	2.676000	0.91093	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2	1	0	1	85	595	0	105	1	9.853326e-01	15	33	0	105	2		0	0	0	0	0	2	1	1	81	576	0	105	2								-20.000000	1	1	121412	1	33	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
C7orf31	136895	broad.mit.edu	37	7	25175698	25175698	+	Missense_Mutation	SNP	G	G	A	rs143176585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25175698G>A	ENST00000409280.1	-	10	1974	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31			14					TTATGGAAACGCTTTTGTGCA	0.413000																								0							SO:0001583	missense			ENST00000409280.1	1	0	hg19	CCDS5394.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	12.45	1.941501	0.34283	0.001362	0.003605	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.07800	3.16;3.16	5.41	3.55	0.40652	.	0.200309	0.42682	N	0.000680	T	0.07818	0.0196	M	0.66939	2.045	0.22629	N	0.998914	P	0.34684	0.463	B	0.19666	0.026	T	0.33828	-0.9853	10	0.54805	T	0.06	-4.2669	4.6912	0.12781	0.0734:0.1319:0.5231:0.2716	.	556	Q8N865	CG031_HUMAN	C	556	ENSP00000386604:R556C;ENSP00000283905:R556C	ENSP00000283905:R556C	R	-	1	0	C7orf31	25142223	0.037000	0.19845	0.726000	0.30738	0.489000	0.33432	0.635000	0.24629	0.724000	0.32296	-0.258000	0.10820	CGT		TCGA-IB-7651-01A-11D-2154-08	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	1	0	1	111	471	0	99	1	9.388615e-01	7	15	0	99	2		0	0	0	0	0	2	1	1	110	465	0	98	2								-2.936621	1	1	121412	135	55	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C7orf31	136895	broad.mit.edu	37	7	25181949	25181949	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25181949G>T	ENST00000409280.1	-	9	1170	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31			14					ATGGGCCCCAGACCTTAATGG	0.393000																								0							SO:0001583	missense			ENST00000409280.1	1	1	hg19	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687199	0.48097	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06528	3.29;3.29	5.48	1.41	0.22369	.	0.446761	0.19074	N	0.123417	T	0.05181	0.0138	L	0.38838	1.175	0.25151	N	0.990429	P	0.37955	0.612	B	0.39503	0.301	T	0.32508	-0.9904	10	0.32370	T	0.25	-37.6172	4.6255	0.12476	0.1732:0.0:0.402:0.4248	.	288	Q8N865	CG031_HUMAN	M	288	ENSP00000386604:L288M;ENSP00000283905:L288M	ENSP00000283905:L288M	L	-	1	2	C7orf31	25148474	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.566000	0.23593	0.773000	0.33404	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	1	0	1	41	232	0	47	1	9.140908e-01	2	24	0	47	2		0	0	0	0	0	2	1	1	41	224	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
LFNG	3955	broad.mit.edu	37	7	2559814	2559814	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2559814G>A	ENST00000222725.5	+	1	339	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LFNG_ENST00000338732.3_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase			6		Ovarian(82;0.0112)			gcgccccctggccgagccgct	0.731000																								0							SO:0001583	missense			ENST00000222725.5	0	1	hg19	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.867809	0.32977	.	.	ENSG00000106003	ENST00000222725;ENST00000359574	T;T	0.59364	0.59;0.27	3.89	0.404	0.16355	.	0.441173	0.23821	N	0.044222	T	0.42291	0.1196	L	0.47716	1.5	0.80722	D	1	P;B	0.40476	0.718;0.031	B;B	0.39258	0.295;0.006	T	0.23904	-1.0175	10	0.12766	T	0.61	-0.2127	7.8891	0.29667	0.1058:0.3088:0.5854:0.0	.	107;107	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	T	107	ENSP00000222725:A107T;ENSP00000352579:A107T	ENSP00000222725:A107T	A	+	1	0	LFNG	2526340	1.000000	0.71417	0.481000	0.27354	0.663000	0.39108	2.938000	0.48987	0.624000	0.30286	-0.247000	0.11927	GCC		TCGA-IB-7651-01A-11D-2154-08	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	0	0	0	27	111	0	18	1	8.152743e-01	7	8	0	18	2		0	0	0	0	0	2	1	1	26	107	0	16	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
NFE2L3	9603	broad.mit.edu	37	7	26225340	26225340	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26225340A>C	ENST00000056233.3	+	4	2281	c.2022A>C	c.(2020-2022)atA>atC	p.I674I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3			29					GTATCTTGATAGTACCCAAAG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000056233.3	1	1	hg19	CCDS5396.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1	1	0	0	86	360	0	69	1	1	87	160	0	69	2		0	0	0	0	0	2	1	1	85	354	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBX3	11335	broad.mit.edu	37	7	26251332	26251332	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26251332T>C	ENST00000337620.4	+	5	809	c.381T>C	c.(379-381)atT>atC	p.I127I	CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.I127I|CBX3_ENST00000409747.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3			9					AAAGAATAATTGGTGCCACAG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000337620.4	1	1	hg19	CCDS5398.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	1	0	0	60	252	0	62	1	1	130	283	0	62	2		0	0	0	0	0	2	1	1	58	244	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNX10	29887	broad.mit.edu	37	7	26404691	26404691	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26404691A>C	ENST00000338523.4	+	5	424	c.237A>C	c.(235-237)aaA>aaC	p.K79N	SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N|SNX10_ENST00000409367.1_Missense_Mutation_p.K39N	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10			6					TTCCATCTAAAAACCTGTTTT	0.413000											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000338523.4	1	1	hg19	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327163	0.81690	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000446848;ENST00000396376;ENST00000409367	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	6.17	5.03	0.67393	Phox homologous domain (5);	0.137279	0.64402	D	0.000003	T	0.74898	0.3777	M	0.92459	3.31	0.39415	D	0.966823	D;D	0.63880	0.993;0.986	P;P	0.61397	0.888;0.67	T	0.82084	-0.0632	10	0.87932	D	0	.	11.8368	0.52330	0.9327:0.0:0.0673:0.0	.	105;79	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	N	105;79;105;79;39	ENSP00000408164:K105N;ENSP00000343709:K79N;ENSP00000395474:K105N;ENSP00000379661:K79N;ENSP00000387274:K39N	ENSP00000343709:K79N	K	+	3	2	SNX10	26371216	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.599000	0.46231	2.371000	0.80710	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1	1	0	1	44	174	0	48	1	1	8	137	0	48	2		0	0	0	0	0	2	1	1	44	171	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTYH3	80727	broad.mit.edu	37	7	2697971	2697971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2697971G>A	ENST00000258796.7	+	12	1507	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	TTYH3_ENST00000403167.1_Silent_p.A263A|TTYH3_ENST00000407643.1_Silent_p.A402A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3			17		Ovarian(82;0.0112)			CGCGGCAGGCGCACGACAGCC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000258796.7	1	1	hg19	CCDS34588.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	1	0	1	19	94	0	14	1	1	79	192	0	14	2		0	0	0	0	0	2	1	9.999935e-01	19	91	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999766	0.990000	1	9.900000e-01	1
HOXA2	3199	broad.mit.edu	37	7	27140427	27140427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27140427C>T	ENST00000222718.5	-	2	1359	c.1049G>A	c.(1048-1050)aGt>aAt	p.S350N	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2			22					ATCTACGGGACTGTCGAGGGA	0.448000																								0							SO:0001583	missense			ENST00000222718.5	1	1	hg19	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209575	0.79240	.	.	ENSG00000105996	ENST00000222718	T	0.11169	2.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.86651	2.83	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.47623	-0.9103	10	0.87932	D	0	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	350	O43364	HXA2_HUMAN	N	350	ENSP00000222718:S350N	ENSP00000222718:S350N	S	-	2	0	HOXA2	27106952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.629000	0.67798	2.492000	0.84095	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2	1	0	1	111	524	0	125	0	4.866195e-01	0	9	0	125	2		0	0	0	0	0	2	1	1	108	511	0	125	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXA3	3200	broad.mit.edu	37	7	27147792	27147792	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147792T>C	ENST00000396352.4	-	3	1273	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	HOXA3_ENST00000317201.2_Silent_p.P358P|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3			29					CCTGTATGTGTGGGGTCCCAT	0.672000													Esophageal Squamous(136;1368 1743 5685 7935 50360)											0							SO:0001819	synonymous_variant			ENST00000396352.4	1	1	hg19	CCDS5404.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2	1	0	0	33	126	0	22	0	2.840499e-01	0	5	0	22	2		0	0	0	0	0	2	1	1	33	125	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXA3	3200	broad.mit.edu	37	7	27147987	27147987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147987C>T	ENST00000396352.4	-	3	1078	c.879G>A	c.(877-879)tcG>tcA	p.S293S	HOXA3_ENST00000317201.2_Silent_p.S293S|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3			29					AGGGCGGGGGCGACTGGGGCT	0.706000													Esophageal Squamous(136;1368 1743 5685 7935 50360)											0							SO:0001819	synonymous_variant			ENST00000396352.4	1	1	hg19	CCDS5404.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2	1	0	0	69	285	0	50	0	5.477960e-01	1	8	0	50	2		0	0	0	0	0	2	1	1	69	278	0	49	2								-3.689230	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXA4	3201	broad.mit.edu	37	7	27170305	27170305	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27170305C>T	ENST00000360046.5	-	1	113	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HOXA4_ENST00000428284.2_Silent_p.K16K|HOXA-AS2_ENST00000521687.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000517550.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4			12					AGGGAGGGAACTTGGGCTCGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000360046.5	0	1	hg19	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254503	0.59212	.	.	ENSG00000197576	ENST00000548581	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9748	0.19373	0.0:0.7431:0.0:0.2569	.	.	.	.	.	-1	.	.	.	-	.	.	HOXA4	27136830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.613000	0.24299	2.115000	0.64714	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4	1	0	0	17	73	0	17	0	0	0	1	0	17	2		0	0	0	0	0	2	1	9.999777e-01	17	71	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999844	0.990000	1	9.900000e-01	1
HOXA5	3202	broad.mit.edu	37	7	27182814	27182814	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27182814C>A	ENST00000222726.3	-	1	473	c.413G>T	c.(412-414)aGc>aTc	p.S138I	HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA5_ENST00000520854.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5			16					CTCTCTGCTGCTGATGTGGGT	0.746000													Colon(119;75 2200 7557 42868)											0							SO:0001583	missense			ENST00000222726.3	1	1	hg19	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921704	0.17982	.	.	ENSG00000106004	ENST00000222726	D	0.92249	-3.0	4.21	2.41	0.29592	.	0.134181	0.64402	D	0.000003	D	0.82981	0.5155	N	0.21448	0.665	0.31152	N	0.705393	B	0.02656	0.0	B	0.04013	0.001	T	0.74987	-0.3476	10	0.30854	T	0.27	.	6.9164	0.24361	0.1432:0.7032:0.0:0.1537	.	138	P20719	HXA5_HUMAN	I	138	ENSP00000222726:S138I	ENSP00000222726:S138I	S	-	2	0	HOXA5	27149339	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.840000	0.39230	0.726000	0.32339	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1	1	0	0	80	386	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1	79	380	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXA11	3207	broad.mit.edu	37	7	27222562	27222562	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27222562G>A	ENST00000006015.3	-	2	866	c.795C>T	c.(793-795)taC>taT	p.Y265Y	HOXA11-AS_ENST00000520395.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11			16					CTTTGTTAATGTAGACGCTGA	0.493000			T	NUP98	CML										Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0							SO:0001819	synonymous_variant			ENST00000006015.3	1	1	hg19	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	6.399	0.441812	0.12164	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.91	-1.18	0.09617	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55296	-0.8163	4	.	.	.	.	11.4646	0.50230	0.5571:0.0:0.4429:0.0	.	.	.	.	I	235	.	.	T	-	2	0	HOXA11	27189087	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	1.168000	0.31859	-0.109000	0.12044	-0.982000	0.02568	ACA		TCGA-IB-7651-01A-11D-2154-08	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1	1	0	0	115	529	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	111	509	0	115	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HOXA13	3209	broad.mit.edu	37	7	27239044	27239044	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27239044G>A	ENST00000222753.4	-	1	681	c.653C>T	c.(652-654)gCc>gTc	p.A218V	HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000521028.2_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13			6					GAACTCCTCGGCAGCTGGGCC	0.692000			T	NUP98	AML										Dom	yes		7	7p15-p14.2	3209	homeo box A13		L	0							SO:0001583	missense			ENST00000222753.4	1	1	hg19	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698676	0.88830	.	.	ENSG00000106031	ENST00000222753	T	0.45276	0.9	4.11	3.19	0.36642	.	0.115129	0.56097	D	0.000034	T	0.40094	0.1103	L	0.33245	0.995	0.30730	N	0.747292	P	0.42961	0.795	P	0.50270	0.636	T	0.43605	-0.9381	10	0.87932	D	0	.	7.8364	0.29371	0.0:0.3133:0.5316:0.1551	.	218	P31271	HXA13_HUMAN	V	218	ENSP00000222753:A218V	ENSP00000222753:A218V	A	-	2	0	HOXA13	27205569	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	2.709000	0.47160	0.794000	0.33899	0.456000	0.33151	GCC		TCGA-IB-7651-01A-11D-2154-08	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3	1	0	0	60	235	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1	60	230	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EVX1	2128	broad.mit.edu	37	7	27283025	27283025	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27283025A>G	ENST00000496902.4	+	1	862	c.376A>G	c.(376-378)Agc>Ggc	p.S126G	RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron			P49640	EVX1_HUMAN	even-skipped homeobox 1			14					AATCGAGGTGAGCTGCACCCC	0.682000																								0							SO:0001583	missense			ENST00000496902.4	1	1	hg19	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	A	7.048	0.563897	0.13498	.	.	ENSG00000106038	ENST00000496902	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.71581	2.175	0.80722	D	1	B	0.16166	0.016	B	0.18561	0.022	T	0.83129	-0.0114	10	0.06099	T	0.92	-24.7788	15.3786	0.74633	1.0:0.0:0.0:0.0	.	126	P49640	EVX1_HUMAN	G	126	ENSP00000419266:S126G	ENSP00000419266:S126G	S	+	1	0	EVX1	27249550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.797000	0.91882	2.038000	0.60285	0.459000	0.35465	AGC		TCGA-IB-7651-01A-11D-2154-08	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3	1	0	0	13	174	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	9.995628e-01	11	174	0	36	2								-17.813360	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.840000	0.470000	1.000000	1.000000	0.828529	0.840000	0	6.400000e-01	1
EVX1	2128	broad.mit.edu	37	7	27284774	27284774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27284774G>A	ENST00000496902.4	+	2	1021	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	EVX1_ENST00000222761.3_Silent_p.A160A|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_5'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1			14					GGCGTGCAGCGCCAGTGACCA	0.672000																								0							SO:0001583	missense			ENST00000496902.4	1	1	hg19	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387359	0.82902	.	.	ENSG00000106038	ENST00000496902	D	0.95656	-3.77	5.41	5.41	0.78517	Homeodomain-related (1);Homeodomain-like (1);	0.103751	0.64402	D	0.000004	D	0.93726	0.7995	M	0.64997	1.995	0.80722	D	1	P	0.47350	0.894	B	0.36092	0.217	D	0.94154	0.7408	10	0.52906	T	0.07	-20.9374	19.1941	0.93679	0.0:0.0:1.0:0.0	.	179	P49640	EVX1_HUMAN	T	179	ENSP00000419266:A179T	ENSP00000419266:A179T	A	+	1	0	EVX1	27251299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.718000	0.68455	2.542000	0.85734	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3	1	0	1	100	372	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	98	365	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMZ1	155185	broad.mit.edu	37	7	2752047	2752047	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2752047G>A	ENST00000312371.4	+	7	1400	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	AMZ1_ENST00000407112.1_Missense_Mutation_p.A288T|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1			16		Ovarian(82;0.0779)			AGGACACCCCGCCTGCCAGCG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000312371.4	1	1	hg19	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	g	4.290	0.053063	0.08291	.	.	ENSG00000174945	ENST00000407112	T	0.37058	1.22	4.66	-2.71	0.05986	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.29518	-1.0009	8	0.72032	D	0.01	-5.1853	1.1093	0.01700	0.3229:0.1307:0.3488:0.1977	.	288	B3KRS0	.	T	288	ENSP00000386020:A288T	ENSP00000386020:A288T	A	+	1	0	AMZ1	2718573	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	-0.282000	0.08445	-0.480000	0.06803	-0.355000	0.07637	GCC		TCGA-IB-7651-01A-11D-2154-08	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	0	0	1	17	125	0	23	0	1.637931e-02	0	2	0	23	2		0	0	0	0	0	2	1	9.999687e-01	17	121	0	23	2								-2.601871	1	1	121076	5	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.870000	1.000000	1.000000	0.992521	0.990000	1	9.900000e-01	1
HIBADH	11112	broad.mit.edu	37	7	27565856	27565856	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27565856G>T	ENST00000265395.2	-	8	1194	c.988C>A	c.(988-990)Cta>Ata	p.L330I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase			12			GBM - Glioblastoma multiforme(3;0.0368)		TCCTCTCGTAGGAACTGGAAC	0.502000																								0							SO:0001583	missense			ENST00000265395.2	1	1	hg19	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441916	0.63067	.	.	ENSG00000106049	ENST00000265395	T	0.36340	1.26	6.16	5.29	0.74685	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.71920	2.185	0.80722	D	1	B	0.27997	0.197	P	0.49665	0.618	T	0.55717	-0.8097	10	0.45353	T	0.12	-1.5058	7.2851	0.26333	0.2718:0.0:0.7282:0.0	.	330	P31937	3HIDH_HUMAN	I	330	ENSP00000265395:L330I	ENSP00000265395:L330I	L	-	1	2	HIBADH	27532381	1.000000	0.71417	0.867000	0.34043	0.821000	0.46438	4.995000	0.63908	1.629000	0.50426	0.650000	0.86243	CTA		TCGA-IB-7651-01A-11D-2154-08	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	1	0	1	34	115	0	36	1	1	39	126	0	36	2		0	0	0	0	0	2	1	1	34	115	0	36	2								-19.999140	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIBADH	11112	broad.mit.edu	37	7	27669044	27669044	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27669044C>T	ENST00000265395.2	-	4	636	c.430G>A	c.(430-432)Gcc>Acc	p.A144T		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase			12			GBM - Glioblastoma multiforme(3;0.0368)		ACTTCTTTGGCCAATTCTTTT	0.333000																								0							SO:0001583	missense			ENST00000265395.2	1	1	hg19	CCDS5414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.728778|4.728778	0.89390|0.89390	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000265395|ENST00000425715	T|.	0.38401|.	1.14|.	5.73|5.73	5.73|5.73	0.89815|0.89815	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.103605|.	0.64402|.	D|.	0.000003|.	D|.	0.84365|.	0.5456|.	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	B;B|.	0.27882|.	0.192;0.192|.	B;B|.	0.37550|.	0.253;0.253|.	D|.	0.85455|.	0.1163|.	10|.	0.59425|.	D|.	0.04|.	-17.6332|-17.6332	19.918|19.918	0.97070|0.97070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144;144|.	Q546Z2;P31937|.	.;3HIDH_HUMAN|.	T|X	144|86	ENSP00000265395:A144T|.	ENSP00000265395:A144T|.	A|W	-|-	1|3	0|0	HIBADH|HIBADH	27635569|27635569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.490000|4.490000	0.60319|0.60319	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	GCC|TGG		TCGA-IB-7651-01A-11D-2154-08	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	1	0	1	71	427	0	91	1	1	50	149	0	91	2		0	0	0	0	0	2	1	1	71	417	0	90	2								-3.222105	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAX1BP1	8887	broad.mit.edu	37	7	27797740	27797740	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27797740C>T	ENST00000396319.2	+	3	341	c.253C>T	c.(253-255)Cta>Tta	p.L85L	TAX1BP1_ENST00000265393.6_Silent_p.L85L|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000543117.1_Silent_p.L85L|TAX1BP1_ENST00000409980.1_Silent_p.L85L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1			31			GBM - Glioblastoma multiforme(3;0.0823)		CAATTGTGTACTAGCATTCCA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000396319.2	1	1	hg19	CCDS5415.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	0	0	0	10	359	0	69	1	9.996758e-01	26	520	0	69	2		0	0	0	0	0	2	1	9.968050e-01	10	355	0	67	2								-2.922088	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.330000	0.170000	1.000000	0.320000	0.382858	0.330000	0	2.400000e-01	4.800000e-01
TAX1BP1	8887	broad.mit.edu	37	7	27824902	27824902	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27824902G>T	ENST00000396319.2	+	6	821	c.733G>T	c.(733-735)Gca>Tca	p.A245S	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1			31			GBM - Glioblastoma multiforme(3;0.0823)		AACACATAAAGCAATTGAAAA	0.279000																								0							SO:0001583	missense			ENST00000396319.2	1	1	hg19	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166803	0.94768	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98	5.89	5.89	0.94794	.	0.000000	0.53938	D	0.000060	T	0.30823	0.0777	L	0.53249	1.67	0.58432	D	0.999994	D;P;D	0.89917	1.0;0.877;0.971	D;P;P	0.91635	0.999;0.74;0.888	T	0.00122	-1.2027	10	0.30854	T	0.27	-17.8587	20.2572	0.98426	0.0:0.0:1.0:0.0	.	88;245;245	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	S	245;245;245;88;245	ENSP00000444811:A245S;ENSP00000265393:A245S;ENSP00000386515:A245S;ENSP00000391907:A88S;ENSP00000379612:A245S	ENSP00000265393:A245S	A	+	1	0	TAX1BP1	27791427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.960000	0.70348	2.793000	0.96121	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	1	0	1	46	217	0	50	1	1	199	485	0	50	2		0	0	0	0	0	2	1	1	46	214	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARD11	84433	broad.mit.edu	37	7	2952980	2952980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2952980G>A	ENST00000396946.4	-	22	3363	c.2960C>T	c.(2959-2961)aCg>aTg	p.T987M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11			150		Ovarian(82;0.0115)			CTGCACCAGCGTCTTGGCCAG	0.672000			Mis		DLBCL										Dom	yes		7	7p22	84433	caspase recruitment domain family, member 11		L	0							SO:0001583	missense			ENST00000396946.4	1	1	hg19	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638367	0.29157	2.27E-4	0.0	ENSG00000198286	ENST00000396946	T	0.31769	1.48	4.36	4.36	0.52297	.	0.307048	0.30556	N	0.009370	T	0.17280	0.0415	N	0.08118	0	0.44092	D	0.996857	P	0.35050	0.482	B	0.37047	0.24	T	0.09164	-1.0687	10	0.44086	T	0.13	-21.0385	10.5667	0.45177	0.0894:0.0:0.9106:0.0	.	987	Q9BXL7	CAR11_HUMAN	M	987	ENSP00000380150:T987M	ENSP00000380150:T987M	T	-	2	0	CARD11	2919506	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	5.970000	0.70431	1.985000	0.57927	0.484000	0.47621	ACG		TCGA-IB-7651-01A-11D-2154-08	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	1	0	1	116	468	0	100	1	9.999989e-01	30	50	0	100	2		0	0	0	0	0	2	1	1	115	456	0	99	2								-20.000000	1	1	121384	1	41	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHN2	1124	broad.mit.edu	37	7	29552224	29552224	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29552224T>G	ENST00000222792.6	+	13	1810	c.1280T>G	c.(1279-1281)cTg>cGg	p.L427R	CHN2_ENST00000435288.2_Missense_Mutation_p.L151R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000410098.1_3'UTR|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2			23					GCAGAAAATCTGGGGATCGTG	0.428000													Ovarian(1;44 48 13232 18918 31480)											0							SO:0001583	missense			ENST00000222792.6	1	1	hg19	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149759	0.78001	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.57907	0.51;0.51;0.37;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.068865	0.64402	D	0.000011	D	0.84188	0.5417	H	0.99312	4.51	0.80722	D	1	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.763;1.0;1.0;1.0;1.0;1.0;0.998;1.0;0.998	D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.917;0.918;0.992;0.582;0.998;0.999;0.998;0.999;0.998;0.917;0.992;0.917	D	0.90959	0.4811	10	0.87932	D	0	.	15.4009	0.74841	0.0:0.0:0.0:1.0	.	220;412;440;502;246;200;219;187;245;233;283;427;291;427	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	R	502;427;151;440;283;412;291;246;245;233	ENSP00000444063:L502R;ENSP00000222792:L427R;ENSP00000400282:L151R;ENSP00000438587:L440R;ENSP00000440526:L283R;ENSP00000442812:L412R;ENSP00000386849:L291R;ENSP00000406337:L246R;ENSP00000387425:L245R;ENSP00000394284:L233R	ENSP00000222792:L427R	L	+	2	0	CHN2	29518749	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.997000	0.88414	2.179000	0.69175	0.528000	0.53228	CTG		TCGA-IB-7651-01A-11D-2154-08	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	1	0	1	73	300	0	70	1	9.218541e-01	3	16	0	70	2		0	0	0	0	0	2	1	1	71	296	0	70	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARD11	84433	broad.mit.edu	37	7	2974175	2974175	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2974175G>A	ENST00000396946.4	-	10	1833	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11			150		Ovarian(82;0.0115)			CGAGGTGGAAGAATCGTCAGC	0.577000			Mis		DLBCL										Dom	yes		7	7p22	84433	caspase recruitment domain family, member 11		L	0							SO:0001583	missense			ENST00000396946.4	1	1	hg19	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086310	0.20390	.	.	ENSG00000198286	ENST00000396946	T	0.53423	0.62	5.22	5.22	0.72569	.	0.447184	0.25369	N	0.031174	T	0.26629	0.0651	N	0.08118	0	0.27585	N	0.949457	B	0.18166	0.026	B	0.14023	0.01	T	0.10405	-1.0631	10	0.25106	T	0.35	-15.0704	11.2701	0.49133	0.0835:0.0:0.9165:0.0	.	477	Q9BXL7	CAR11_HUMAN	F	477	ENSP00000380150:S477F	ENSP00000380150:S477F	S	-	2	0	CARD11	2940701	0.809000	0.29036	0.108000	0.21378	0.170000	0.22686	2.543000	0.45752	2.458000	0.83093	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	1	0	1	36	189	0	33	1	9.999387e-01	37	44	0	33	2		0	0	0	0	0	2	1	1	35	188	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
SCRN1	9805	broad.mit.edu	37	7	29963631	29963631	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963631G>A	ENST00000426154.1	-	8	1363	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SCRN1_ENST00000425819.2_Missense_Mutation_p.A328V|SCRN1_ENST00000434476.2_Missense_Mutation_p.A416V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V|SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1			25					CCCCACTTCCGCAGGGTCCAG	0.522000																								0							SO:0001583	missense			ENST00000426154.1	1	1	hg19	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	6.220	0.408774	0.11812	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	T;T;T;T;T;T	0.12255	3.22;3.22;3.07;3.22;2.7;3.21	4.73	3.85	0.44370	.	0.335476	0.28011	N	0.016950	T	0.10423	0.0255	L	0.42245	1.32	0.09310	N	1	B;B;P;B	0.36837	0.106;0.049;0.571;0.007	B;B;B;B	0.27262	0.007;0.007;0.078;0.004	T	0.17198	-1.0377	10	0.30078	T	0.28	-0.9737	11.8492	0.52401	0.0863:0.0:0.9137:0.0	.	416;416;328;396	C9JPG0;B4DHM0;B4DIP5;Q12765	.;.;.;SCRN1_HUMAN	V	396;396;328;200;396;222;416	ENSP00000242059:A396V;ENSP00000409068:A396V;ENSP00000414245:A328V;ENSP00000386872:A396V;ENSP00000407460:A222V;ENSP00000388942:A416V	ENSP00000242059:A396V	A	-	2	0	SCRN1	29930156	0.123000	0.22298	0.015000	0.15790	0.099000	0.18886	2.986000	0.49370	1.108000	0.41662	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	1	0	1	125	523	0	121	1	1	4	107	0	121	2		0	0	0	0	0	2	1	1	122	511	0	117	2								-3.402010	1	0	121412	2	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCRN1	9805	broad.mit.edu	37	7	29983622	29983622	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983622C>T	ENST00000426154.1	-	4	691	c.515G>A	c.(514-516)gGg>gAg	p.G172E	SCRN1_ENST00000425819.2_Missense_Mutation_p.G104E|SCRN1_ENST00000494620.1_5'Flank|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1			25					CCAGTACTTCCCTATGGTCTC	0.532000																								0							SO:0001583	missense			ENST00000426154.1	1	1	hg19	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199317	0.94997	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;2.28;-0.11;-0.11	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90095	0.4180	9	.	.	.	-16.4932	18.6916	0.91585	0.0:1.0:0.0:0.0	.	192;104;172	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	E	172;172;104;172;63;192;172	ENSP00000242059:G172E;ENSP00000409068:G172E;ENSP00000414245:G104E;ENSP00000386872:G172E;ENSP00000407460:G63E;ENSP00000388942:G192E;ENSP00000413184:G172E	.	G	-	2	0	SCRN1	29950147	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	0	0	1	91	423	0	106	0	1	0	128	0	106	2		0	0	0	0	0	2	1	1	88	407	0	103	2								-2.925848	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCRN1	9805	broad.mit.edu	37	7	29983760	29983760	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983760G>T	ENST00000426154.1	-	4	553	c.377C>A	c.(376-378)gCc>gAc	p.A126D	SCRN1_ENST00000425819.2_Missense_Mutation_p.A58D|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000434476.2_Missense_Mutation_p.A146D|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1			25					GACATCTAAGGCTTCTTTAGC	0.423000																								0							SO:0001583	missense			ENST00000426154.1	1	1	hg19	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281032	0.95489	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434;ENST00000438497	T;T;T;T;T;T;T;T	0.56103	1.67;1.67;1.67;1.67;1.88;1.67;1.67;0.48	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.82421	0.5033	H	0.96175	3.78	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87229	0.2259	9	.	.	.	-17.6619	18.9075	0.92469	0.0:0.0:1.0:0.0	.	146;58;126	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	D	126;126;58;126;17;146;126;126	ENSP00000242059:A126D;ENSP00000409068:A126D;ENSP00000414245:A58D;ENSP00000386872:A126D;ENSP00000407460:A17D;ENSP00000388942:A146D;ENSP00000413184:A126D;ENSP00000406289:A126D	.	A	-	2	0	SCRN1	29950285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	1	0	1	65	313	0	76	1	9.999994e-01	2	101	0	76	2		0	0	0	0	0	2	1	1	64	308	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEKHA8	84725	broad.mit.edu	37	7	30100541	30100541	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30100541C>A	ENST00000449726.1	+	10	1431	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8			17					TAAGATGGATCTTGTTGGAAA	0.323000																								0							SO:0001583	missense			ENST00000449726.1	1	1	hg19	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165487	0.21538	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	4.91	4.91	0.64330	Glycolipid transfer protein domain (3);	0.056844	0.64402	D	0.000001	T	0.33059	0.0850	N	0.11818	0.18	0.27784	N	0.943051	B;P;D;P	0.67145	0.211;0.885;0.996;0.846	B;P;D;B	0.75484	0.066;0.589;0.986;0.41	T	0.18116	-1.0347	9	0.09084	T	0.74	-24.9016	7.9807	0.30181	0.0:0.8245:0.0:0.1755	.	361;361;361;361	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	I	361;361;361;361;387	.	ENSP00000258679:L361I	L	+	1	0	PLEKHA8	30067066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.348000	0.59379	2.410000	0.81850	0.467000	0.42956	CTT		TCGA-IB-7651-01A-11D-2154-08	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	83	377	0	86	1	9.440323e-01	9	15	0	86	2		0	0	0	0	0	2	1	1	83	369	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C7orf41	0	broad.mit.edu	37	7	30174882	30174882	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30174882C>A	ENST00000324453.8	+	1	457	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M|C7orf41_ENST00000409688.1_Missense_Mutation_p.L44M	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN				3					CTTCTATGTGCTGTGTCCGGA	0.657000																								0							SO:0001583	missense			ENST00000324453.8	0	1	hg19	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816213	0.50527	.	.	ENSG00000180354	ENST00000324453;ENST00000409688;ENST00000415604	.	.	.	3.65	2.75	0.32379	.	0.207640	0.30714	U	0.009021	T	0.52805	0.1757	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	D	0.65323	0.934	T	0.52668	-0.8545	9	0.66056	D	0.02	-9.4088	8.8308	0.35082	0.0:0.8806:0.0:0.1194	.	44	Q8N3F0	CG041_HUMAN	M	44	.	ENSP00000324204:L44M	L	+	1	2	C7orf41	30141407	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	3.833000	0.55790	0.497000	0.27926	0.289000	0.19496	CTG		TCGA-IB-7651-01A-11D-2154-08	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1	1	0	0	11	73	0	16	1	9.879510e-01	16	38	0	16	2		0	0	0	0	0	2	1	9.985250e-01	11	71	0	15	2								-18.725420	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.830000	1.000000	1.000000	0.989966	0.990000	1	9.900000e-01	1
NOD1	10392	broad.mit.edu	37	7	30490965	30490965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30490965C>T	ENST00000222823.4	-	6	2593	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1			39					CTGCAGTCGGCCGAGCAGGCG	0.627000																								0							SO:0001583	missense			ENST00000222823.4	1	1	hg19	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956733	0.73902	.	.	ENSG00000106100	ENST00000222823	T	0.53857	0.6	5.71	5.71	0.89125	.	0.157867	0.56097	D	0.000037	T	0.62998	0.2474	M	0.65975	2.015	0.80722	D	1	D	0.62365	0.991	P	0.53490	0.727	T	0.65195	-0.6227	10	0.56958	D	0.05	.	13.7785	0.63069	0.1532:0.8468:0.0:0.0	.	690	Q9Y239	NOD1_HUMAN	T	690	ENSP00000222823:A690T	ENSP00000222823:A690T	A	-	1	0	NOD1	30457490	0.990000	0.36364	0.865000	0.33974	0.953000	0.61014	2.834000	0.48167	2.709000	0.92574	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2	1	0	1	106	424	0	75	1	9.831502e-01	5	23	0	75	2		0	0	0	0	0	2	1	1	103	420	1	75	22								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOD1	10392	broad.mit.edu	37	7	30491717	30491717	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30491717C>A	ENST00000222823.4	-	6	1841	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1			39					CACCAGGCTGCTGGGCTGCAT	0.652000																								0							SO:0001583	missense			ENST00000222823.4	1	1	hg19	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383985	0.25031	.	.	ENSG00000106100	ENST00000222823	T	0.71934	-0.61	5.71	1.63	0.23807	NACHT nucleoside triphosphatase (1);	0.663946	0.17186	N	0.183688	T	0.52419	0.1733	N	0.14661	0.345	0.38005	D	0.934361	B	0.09022	0.002	B	0.04013	0.001	T	0.46952	-0.9154	10	0.41790	T	0.15	.	12.7173	0.57121	0.078:0.6397:0.2823:0.0	.	439	Q9Y239	NOD1_HUMAN	I	439	ENSP00000222823:S439I	ENSP00000222823:S439I	S	-	2	0	NOD1	30458242	0.998000	0.40836	0.956000	0.39512	0.962000	0.63368	2.780000	0.47742	0.308000	0.22923	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2	1	0	0	41	400	0	60	0	6.694087e-01	0	24	0	60	2		0	0	0	0	0	2	1	1	40	397	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.978707	0.990000	1	9.400000e-01	1
NOD1	10392	broad.mit.edu	37	7	30496420	30496420	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30496420G>T	ENST00000222823.4	-	4	643	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1			39					TTGTCCACCAGACACTGAGTA	0.527000																								0							SO:0001583	missense			ENST00000222823.4	1	1	hg19	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887516	0.72410	.	.	ENSG00000106100	ENST00000222823;ENST00000423334;ENST00000411552;ENST00000419799;ENST00000413433;ENST00000419601	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.8	4.92	0.64577	DEATH-like (2);Caspase Recruitment (2);	0.070867	0.56097	D	0.000035	T	0.50222	0.1603	M	0.73962	2.25	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.986	T	0.39078	-0.9631	10	0.26408	T	0.33	.	9.7691	0.40578	0.1422:0.0:0.8578:0.0	.	40;40	B4DTU3;Q9Y239	.;NOD1_HUMAN	M	40	ENSP00000222823:L40M;ENSP00000409416:L40M;ENSP00000396046:L40M;ENSP00000395551:L40M;ENSP00000399505:L40M	ENSP00000222823:L40M	L	-	1	2	NOD1	30462945	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.014000	0.29950	2.744000	0.94065	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2	1	0	1	95	388	0	89	1	9.777039e-01	6	21	0	89	2		0	0	0	0	0	2	1	1	95	378	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GARS	2617	broad.mit.edu	37	7	30638502	30638502	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30638502C>A	ENST00000389266.3	+	2	554	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase			24				Glycine(DB00145)	CAAGAGGGTTCTGGAAGCAAA	0.438000																								0							SO:0001583	missense			ENST00000389266.3	1	1	hg19	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276056	0.59649	.	.	ENSG00000106105	ENST00000389266	T	0.43688	0.94	5.29	3.46	0.39613	WHEP-TRS (2);S15/NS1, RNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.91300	3.195	0.58432	D	0.999999	D	0.59767	0.986	D	0.64877	0.93	T	0.70142	-0.4953	10	0.59425	D	0.04	-11.9529	8.6872	0.34245	0.0:0.8139:0.0:0.1861	.	105	P41250	SYG_HUMAN	M	105	ENSP00000373918:L105M	ENSP00000373918:L105M	L	+	1	2	GARS	30605027	0.963000	0.33076	0.999000	0.59377	0.993000	0.82548	2.229000	0.42990	1.396000	0.46663	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	0	0	0	35	172	0	53	1	1	124	227	0	53	2		0	0	0	0	0	2	1	1	35	168	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
GARS	2617	broad.mit.edu	37	7	30639665	30639665	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30639665G>T	ENST00000389266.3	+	3	668	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase			24				Glycine(DB00145)	TATTTATGGAGGTAAGGGATT	0.378000																								0							SO:0001630	splice_region_variant			ENST00000389266.3	0	1	hg19	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749564	0.89753	.	.	ENSG00000106105	ENST00000389266	T	0.81163	-1.46	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95100	0.8229	10	0.87932	D	0	-18.4527	17.4148	0.87497	0.0:0.0:1.0:0.0	.	143	P41250	SYG_HUMAN	C	143	ENSP00000373918:G143C	ENSP00000373918:G143C	G	+	1	0	GARS	30606190	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.818000	0.99354	2.784000	0.95788	0.643000	0.83706	GGT		TCGA-IB-7651-01A-11D-2154-08	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	0	0	0	6	300	0	53	1	9.802594e-01	8	355	0	53	2		0	0	0	0	0	2	1	9.616340e-01	6	290	0	53	2								-4.052476	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.250000	0.100000	1.000000	0.230000	0.305825	0.250000	0	1.600000e-01	3.900000e-01
GARS	2617	broad.mit.edu	37	7	30640803	30640803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30640803G>A	ENST00000389266.3	+	4	797	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase			24				Glycine(DB00145)	GCTCACCCCTGAGCCAGTTTT	0.368000																								0							SO:0001583	missense			ENST00000389266.3	1	1	hg19	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074508	0.94000	.	.	ENSG00000106105	ENST00000389266	T	0.68181	-0.31	5.69	4.77	0.60923	Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.045743	0.85682	D	0.000000	T	0.70622	0.3245	L	0.53671	1.685	0.80722	D	1	D	0.53745	0.962	P	0.50970	0.655	T	0.73924	-0.3829	10	0.72032	D	0.01	-19.5156	15.265	0.73654	0.0:0.141:0.859:0.0	.	186	P41250	SYG_HUMAN	K	186	ENSP00000373918:E186K	ENSP00000373918:E186K	E	+	1	0	GARS	30607328	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.757000	0.98924	2.857000	0.98124	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	1	0	1	77	297	0	54	1	1	125	246	0	54	2		0	0	0	0	0	2	1	1	76	294	0	53	2								-3.450618	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GARS	2617	broad.mit.edu	37	7	30656818	30656818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30656818G>A	ENST00000389266.3	+	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase			24				Glycine(DB00145)	GATAAACTCCGCTTCCGGCAG	0.458000																								0							SO:0001583	missense			ENST00000389266.3	1	1	hg19	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200674	0.94997	.	.	ENSG00000106105	ENST00000389266	T	0.72051	-0.62	5.22	5.22	0.72569	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.87002	0.6069	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89500	0.3763	10	0.87932	D	0	-9.9164	16.6573	0.85232	0.0:0.0:1.0:0.0	.	428	P41250	SYG_HUMAN	H	428	ENSP00000373918:R428H	ENSP00000373918:R428H	R	+	2	0	GARS	30623343	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	1	0	1	69	310	0	53	1	1	202	407	0	53	2		0	0	0	0	0	2	1	1	70	306	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRHR2	1395	broad.mit.edu	37	7	30693138	30693138	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30693138A>G	ENST00000471646.1	-	12	1591	c.1174T>C	c.(1174-1176)Tcc>Ccc	p.S392P	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P|CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2			28					GTAGGGATGGACATGGCCCGG	0.652000																								0							SO:0001583	missense			ENST00000471646.1	1	1	hg19	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725952	0.89298	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.46819	0.86;0.99;0.87	4.45	4.45	0.53987	.	0.057019	0.64402	D	0.000001	T	0.68256	0.2981	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.994;0.987	T	0.72760	-0.4196	10	0.66056	D	0.02	.	12.0233	0.53356	1.0:0.0:0.0:0.0	.	391;419;378;392	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	P	392;419;378	ENSP00000418722:S392P;ENSP00000340943:S419P;ENSP00000344304:S378P	ENSP00000344304:S378P	S	-	1	0	CRHR2	30659663	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.300000	0.96151	1.793000	0.52555	0.378000	0.23410	TCC		TCGA-IB-7651-01A-11D-2154-08	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3	1	0	1	148	600	0	104	0	0	0	1	0	104	2		0	0	0	0	0	2	1	1	142	590	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INMT	11185	broad.mit.edu	37	7	30793510	30793510	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30793510C>A	ENST00000013222.5	+	2	334	c.318C>A	c.(316-318)gaC>gaA	p.D106E	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.D105E|INMT_ENST00000409539.1_Missense_Mutation_p.D105E	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase			23					GGGCCTATGACTGGACCCCAG	0.572000																								0							SO:0001583	missense			ENST00000013222.5	1	0	hg19	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285357	0.59867	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.05649	3.41;3.41	3.69	3.69	0.42338	.	0.000000	0.64402	D	0.000011	T	0.18635	0.0447	M	0.73372	2.23	0.41786	D	0.989844	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.00433	-1.1742	10	0.44086	T	0.13	-26.0641	7.2097	0.25927	0.0:0.8781:0.0:0.1219	.	105;106	B8ZZ69;O95050	.;INMT_HUMAN	E	106;105	ENSP00000013222:D106E;ENSP00000386961:D105E	ENSP00000013222:D106E	D	+	3	2	INMT	30760035	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	2.516000	0.45520	2.043000	0.60533	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	0	0	1	132	653	0	143	0	9.998899e-01	0	66	0	143	2		0	0	0	0	0	2	1	1	129	635	0	143	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM188B	84182	broad.mit.edu	37	7	30876373	30876373	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30876373T>C	ENST00000265299.6	+	7	1309	c.1232T>C	c.(1231-1233)gTa>gCa	p.V411A	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B			29					GACCTCTCAGTAGCAAAGGTA	0.458000																								0							SO:0001583	missense			ENST00000265299.6	1	1	hg19	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	7.292	0.611184	0.14066	.	.	ENSG00000106125	ENST00000265299	T	0.09538	2.97	4.67	2.37	0.29283	.	0.921018	0.09231	N	0.830597	T	0.09423	0.0232	L	0.44542	1.39	0.19300	N	0.999974	B	0.13145	0.007	B	0.09377	0.004	T	0.35301	-0.9794	10	0.87932	D	0	-1.3325	2.773	0.05340	0.1888:0.1998:0.0:0.6114	.	411	Q4G0A6	F188B_HUMAN	A	411	ENSP00000265299:V411A	ENSP00000265299:V411A	V	+	2	0	FAM188B	30842898	0.028000	0.19301	0.811000	0.32455	0.576000	0.36127	0.479000	0.22228	0.948000	0.37687	0.528000	0.53228	GTA		TCGA-IB-7651-01A-11D-2154-08	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	1	0	0	99	310	0	121	1	9.984165e-01	6	27	0	121	2		0	0	0	0	1	2	1	1	97	302	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GHRHR	2692	broad.mit.edu	37	7	31016139	31016139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31016139G>A	ENST00000326139.2	+	11	1116	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.R293H|GHRHR_ENST00000409316.1_Silent_p.P123P	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor			35				Sermorelin(DB00010)|Tesamorelin(DB08869)	CTGGGCATCCGCCTCCCCCTG	0.577000																								0							SO:0001583	missense			ENST00000326139.2	1	1	hg19	CCDS5432.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	18.64	3.668179	0.67814	0.0	1.16E-4	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.46451	0.87;0.87	5.05	5.05	0.67936	GPCR, family 2-like (1);	.	.	.	.	T	0.47525	0.1450	M	0.62088	1.915	0.80722	D	1	P;D	0.54964	0.856;0.969	B;P	0.46850	0.303;0.529	T	0.54344	-0.8308	9	0.87932	D	0	.	13.9875	0.64345	0.0:0.0:1.0:0.0	.	293;357	Q9HB45;Q02643	.;GHRHR_HUMAN	H	357;293	ENSP00000320180:R357H;ENSP00000387113:R293H	ENSP00000320180:R357H	R	+	2	0	GHRHR	30982664	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.069000	0.76755	2.346000	0.79739	0.546000	0.68486	CGC		TCGA-IB-7651-01A-11D-2154-08	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2	1	0	1	27	107	0	23	0	1.103087e-01	1	2	0	23	2		0	0	0	0	0	2	1	1	27	105	0	23	2								-20.000000	1	1	121412	4	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
NEUROD6	63974	broad.mit.edu	37	7	31378244	31378244	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378244G>A	ENST00000297142.3	-	2	961	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6			32					TGAGCTCAGGGCTGTGGTAGG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000297142.3	1	1	hg19	CCDS5434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	1	0	1	82	399	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	80	390	0	101	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEUROD6	63974	broad.mit.edu	37	7	31378468	31378468	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378468C>T	ENST00000297142.3	-	2	737	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6			32					TAGTTTTTGGCCAGTCGTAAA	0.458000																								0							SO:0001583	missense			ENST00000297142.3	1	1	hg19	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109882	0.77210	.	.	ENSG00000164600	ENST00000297142	D	0.99422	-5.88	5.25	5.25	0.73442	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.87617	2.895	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.98231	1.0483	10	0.87932	D	0	-15.8261	18.86	0.92268	0.0:1.0:0.0:0.0	.	139	Q96NK8	NDF6_HUMAN	T	139	ENSP00000297142:A139T	ENSP00000297142:A139T	A	-	1	0	NEUROD6	31344993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.459000	0.83118	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	0	0	0	12	397	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	9.989276e-01	11	383	0	69	2								-2.841672	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.360000	0.190000	1.000000	0.350000	0.405148	0.360000	0	2.600000e-01	5.000000e-01
CCDC129	223075	broad.mit.edu	37	7	31618023	31618023	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31618023G>T	ENST00000407970.3	+	8	1183	c.1145G>T	c.(1144-1146)gGa>gTa	p.G382V	CCDC129_ENST00000409210.1_Missense_Mutation_p.G290V|CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129			44					GCAGGCAAAGGACCAGACTCA	0.483000																								0							SO:0001583	missense			ENST00000407970.3	1	1	hg19	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875476	0.51695	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18338	2.48;2.48;2.22	5.61	-0.895	0.10560	.	.	.	.	.	T	0.11410	0.0278	L	0.34521	1.04	0.21841	N	0.999514	B;B;B	0.20261	0.043;0.043;0.043	B;B;B	0.17433	0.018;0.018;0.018	T	0.36432	-0.9748	8	.	.	.	-7.5263	8.2676	0.31824	0.0886:0.5671:0.269:0.0752	.	408;392;382	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	V	382;408;392;290	ENSP00000384416:G382V;ENSP00000395835:G408V;ENSP00000387214:G290V	.	G	+	2	0	CCDC129	31584548	0.008000	0.16893	0.007000	0.13788	0.586000	0.36452	0.146000	0.16180	-0.381000	0.07882	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	1	0	1	36	179	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	35	178	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CCDC129	223075	broad.mit.edu	37	7	31682312	31682312	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682312A>C	ENST00000407970.3	+	11	1366	c.1328A>C	c.(1327-1329)aAc>aCc	p.N443T	CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T|CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T|CCDC129_ENST00000319386.3_Missense_Mutation_p.N295T	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129			44					TCCTTGCCAAACAGCCAGAGT	0.493000																								0							SO:0001583	missense			ENST00000407970.3	1	1	hg19	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	7.414	0.635297	0.14322	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.17528	2.38;2.53;2.52;2.27	5.85	1.76	0.24704	.	0.781097	0.12237	N	0.486848	T	0.06234	0.0161	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.14012	0.002;0.0;0.0;0.009	B;B;B;B	0.15870	0.004;0.001;0.001;0.014	T	0.43702	-0.9375	10	0.12766	T	0.61	-6.1587	6.3356	0.21294	0.2524:0.1471:0.6005:0.0	.	469;453;443;295	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	T	295;443;469;453;351	ENSP00000313062:N295T;ENSP00000384416:N443T;ENSP00000395835:N469T;ENSP00000387214:N351T	ENSP00000313062:N295T	N	+	2	0	CCDC129	31648837	0.016000	0.18221	0.194000	0.23346	0.007000	0.05969	0.518000	0.22847	0.405000	0.25532	-0.987000	0.02553	AAC		TCGA-IB-7651-01A-11D-2154-08	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	1	0	1	35	177	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	35	171	0	44	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
CCDC129	223075	broad.mit.edu	37	7	31682321	31682321	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682321G>T	ENST00000407970.3	+	11	1375	c.1337G>T	c.(1336-1338)aGt>aTt	p.S446I	CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I|CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I|CCDC129_ENST00000319386.3_Missense_Mutation_p.S298I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129			44					AACAGCCAGAGTCCTGCTGAG	0.493000																								0							SO:0001583	missense			ENST00000407970.3	1	1	hg19	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976069	0.53720	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.29397	1.57;2.17;2.16;1.91	5.85	4.05	0.47172	.	0.307115	0.28815	N	0.014044	T	0.48502	0.1503	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.89917	1.0;0.99;0.99;0.996	D;P;P;P	0.70716	0.97;0.868;0.79;0.787	T	0.34229	-0.9837	10	0.87932	D	0	-19.9654	8.1795	0.31302	0.1767:0.0:0.8233:0.0	.	472;456;446;298	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	298;446;472;456;354	ENSP00000313062:S298I;ENSP00000384416:S446I;ENSP00000395835:S472I;ENSP00000387214:S354I	ENSP00000313062:S298I	S	+	2	0	CCDC129	31648846	0.001000	0.12720	0.008000	0.14137	0.017000	0.09413	0.635000	0.24629	1.487000	0.48415	0.585000	0.79938	AGT		TCGA-IB-7651-01A-11D-2154-08	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	1	0	0	21	216	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	9.999972e-01	19	209	0	50	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.680000	1.000000	1.000000	0.948421	0.990000	1	8.500000e-01	1
CCDC129	223075	broad.mit.edu	37	7	31682385	31682385	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682385C>T	ENST00000407970.3	+	11	1439	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	CCDC129_ENST00000409210.1_Silent_p.D375D|CCDC129_ENST00000451887.2_Silent_p.D493D|CCDC129_ENST00000319386.3_Silent_p.D319D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129			44					CATCCCAGGACTGTCAGCTAG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000407970.3	1	1	hg19	CCDS5435.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	1	0	0	70	310	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	69	305	0	83	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AVL9	23080	broad.mit.edu	37	7	32598658	32598658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32598658C>T	ENST00000318709.4	+	10	1018	c.797C>T	c.(796-798)aCt>aTt	p.T266I	AVL9_ENST00000409301.1_Missense_Mutation_p.T266I|AVL9_ENST00000404479.1_Missense_Mutation_p.T266I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)			18					TCTGCATCCACTGCTGATGTT	0.458000																								0							SO:0001583	missense			ENST00000318709.4	1	1	hg19	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	3.691	-0.063590	0.07273	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.46819	0.93;0.93;0.88;0.86	5.21	2.41	0.29592	.	0.540486	0.20014	N	0.101063	T	0.29556	0.0737	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.24317	0.101;0.009;0.011	B;B;B	0.21917	0.037;0.008;0.009	T	0.26087	-1.0113	10	0.56958	D	0.05	-17.5432	10.5606	0.45144	0.0:0.7882:0.0:0.2118	.	266;266;266	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	I	266;266;266;266;197	ENSP00000315568:T266I;ENSP00000387011:T266I;ENSP00000385242:T266I;ENSP00000395134:T197I	ENSP00000315568:T266I	T	+	2	0	AVL9	32565183	0.004000	0.15560	0.009000	0.14445	0.005000	0.04900	0.044000	0.13992	0.794000	0.33899	0.591000	0.81541	ACT		TCGA-IB-7651-01A-11D-2154-08	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	1	0	1	50	195	0	50	1	9.999697e-01	16	48	0	50	2		0	0	0	0	0	2	1	1	49	191	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KBTBD2	25948	broad.mit.edu	37	7	32910180	32910180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32910180G>A	ENST00000304056.4	-	4	1348	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2			17			GBM - Glioblastoma multiforme(11;0.0499)		ATTTGGCTAAGAACAGAAGAC	0.413000																								0							SO:0001583	missense			ENST00000304056.4	1	1	hg19	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485055	0.26598	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.77489	-1.1	5.72	5.72	0.89469	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82967	-0.0194	10	0.36615	T	0.2	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	217	Q8IY47	KBTB2_HUMAN	F	217;24	ENSP00000302586:L217F	ENSP00000302586:L217F	L	-	1	0	KBTBD2	32876705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	1	0	1	29	336	0	90	1	9.986005e-01	13	106	0	90	2		0	0	0	0	0	2	1	1	29	331	0	89	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.950000	0.650000	1.000000	1.000000	0.912941	0.950000	1	7.900000e-01	1
BMPER	168667	broad.mit.edu	37	7	34101630	34101630	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34101630G>A	ENST00000297161.2	+	12	1423	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator			48					ATTCTCAACAGAAAAGGATGC	0.289000																								0							SO:0001583	missense			ENST00000297161.2	0	1	hg19	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262841	0.39995	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64260	-0.09;-0.09	6.06	5.18	0.71444	von Willebrand factor, type C (4);	0.085942	0.85682	N	0.000000	T	0.48804	0.1520	L	0.45228	1.405	0.50813	D	0.999896	B	0.31026	0.304	B	0.26614	0.071	T	0.43861	-0.9365	10	0.05721	T	0.95	.	14.8026	0.69926	0.0684:0.0:0.9316:0.0	.	350	Q8N8U9	BMPER_HUMAN	K	350	ENSP00000297161:R350K;ENSP00000393950:R350K	ENSP00000297161:R350K	R	+	2	0	BMPER	34068155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.324000	0.72896	2.880000	0.98712	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	1	0	1	16	90	0	15	0	2.599388e-02	0	2	0	15	2		0	0	0	0	0	2	1	9.999541e-01	16	89	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998682	0.990000	1	9.900000e-01	1
BMPER	168667	broad.mit.edu	37	7	34118487	34118487	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34118487T>C	ENST00000297161.2	+	13	1471	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A	BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator			48					GTTTGCACGGTGTTTGGAGAT	0.537000																								0							SO:0001583	missense			ENST00000297161.2	1	1	hg19	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519696	0.85495	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.63417	-0.04;-0.04	5.97	5.97	0.96955	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	N	0.25245	0.725	0.80722	D	1	D	0.63046	0.992	D	0.72625	0.978	T	0.61618	-0.7026	10	0.15952	T	0.53	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	366	Q8N8U9	BMPER_HUMAN	A	366	ENSP00000297161:V366A;ENSP00000393950:V366A	ENSP00000297161:V366A	V	+	2	0	BMPER	34085012	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	1	0	1	90	442	0	81	0	1.369255e-01	0	4	0	81	2		0	0	0	0	0	2	1	1	89	435	0	81	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBX20	57057	broad.mit.edu	37	7	35284653	35284653	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35284653C>A	ENST00000408931.3	-	4	1088	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20			18					AAAGGAGAATCTGGATGCACA	0.368000																								0							SO:0001583	missense			ENST00000408931.3	1	1	hg19	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924360	0.52653	.	.	ENSG00000164532	ENST00000408931	D	0.91521	-2.86	5.19	5.19	0.71726	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	.	18.7096	0.91651	0.0:1.0:0.0:0.0	.	188	Q9UMR3	TBX20_HUMAN	Y	188	ENSP00000386170:D188Y	ENSP00000386170:D188Y	D	-	1	0	TBX20	35251178	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	7.818000	0.86416	2.427000	0.82271	0.491000	0.48974	GAT		TCGA-IB-7651-01A-11D-2154-08	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	1	0	1	23	98	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999997e-01	23	97	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
TBX20	57057	broad.mit.edu	37	7	35293166	35293166	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35293166C>T	ENST00000408931.3	-	1	592	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20			18					TCGACATGAGCGCGGCAATGG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000408931.3	1	1	hg19	CCDS43568.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	1	0	1	37	171	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	38	169	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
EEPD1	80820	broad.mit.edu	37	7	36194638	36194638	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36194638A>G	ENST00000242108.4	+	2	1423	c.705A>G	c.(703-705)ccA>ccG	p.P235P	EEPD1_ENST00000534978.1_Silent_p.P235P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1			18					ACCTGCCGCCAGGGGGGCCCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000242108.4	1	1	hg19	CCDS34619.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	1	0	0	43	206	0	45	1	9.998781e-01	25	43	0	45	2		0	0	0	0	0	2	1	1	42	201	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EEPD1	80820	broad.mit.edu	37	7	36324351	36324351	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36324351C>T	ENST00000242108.4	+	5	1816	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	EEPD1_ENST00000534978.1_Silent_p.D366D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1			18					AGCTGAGAGACGCGGGTTCAC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000242108.4	1	1	hg19	CCDS34619.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	1	0	0	158	655	0	138	1	1	32	113	0	138	2		0	0	0	0	0	2	1	1	158	645	0	133	2								-20.000000	1	1	121408	2	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EEPD1	80820	broad.mit.edu	37	7	36336643	36336643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36336643C>T	ENST00000242108.4	+	7	2075	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1			18					TGGCCAAGGGCCAGACAGCAA	0.468000																								0							SO:0001583	missense			ENST00000242108.4	1	1	hg19	CCDS34619.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.54	3.646501	0.67358	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95788	-3.81;-3.81	5.09	5.09	0.68999	Endonuclease/exonuclease/phosphatase (2);	0.107611	0.64402	D	0.000004	D	0.95934	0.8676	L	0.59436	1.845	0.58432	D	0.999998	P	0.52692	0.955	P	0.54889	0.763	D	0.95557	0.8626	10	0.54805	T	0.06	-11.2339	14.9567	0.71120	0.0:0.8572:0.1428:0.0	.	453	Q7L9B9	EEPD1_HUMAN	S	453	ENSP00000242108:P453S;ENSP00000442692:P453S	ENSP00000242108:P453S	P	+	1	0	EEPD1	36303168	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	4.650000	0.61440	2.759000	0.94783	0.555000	0.69702	CCA		TCGA-IB-7651-01A-11D-2154-08	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	1	0	1	51	200	0	64	1	9.999997e-01	21	73	0	64	2		0	0	0	0	0	2	1	1	51	195	0	64	2								-3.447102	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0895	23366	broad.mit.edu	37	7	36370598	36370598	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36370598A>C	ENST00000297063.6	-	6	1447	c.1397T>G	c.(1396-1398)cTc>cGc	p.L466R	KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R|KIAA0895_ENST00000480192.1_5'Flank|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000317020.6_Missense_Mutation_p.L415R|KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895			26					CACCTTCCCGAGAGCAGTCAG	0.463000																								0							SO:0001583	missense			ENST00000297063.6	1	1	hg19	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368208	0.61513	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.35	5.35	0.76521	.	0.067296	0.64402	D	0.000009	T	0.77857	0.4193	M	0.69823	2.125	0.80722	D	1	P;D;D;D;D	0.76494	0.738;0.997;0.999;0.999;0.999	B;D;D;D;D	0.75020	0.289;0.966;0.985;0.956;0.956	T	0.80677	-0.1276	9	0.87932	D	0	3.9199	15.4939	0.75634	1.0:0.0:0.0:0.0	.	463;363;466;453;415	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	R	466;453;415;463;363;221	.	ENSP00000297063:L466R	L	-	2	0	KIAA0895	36337123	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	8.438000	0.90305	2.243000	0.73865	0.482000	0.46254	CTC		TCGA-IB-7651-01A-11D-2154-08	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	1	0	1	69	320	0	85	1	7.002548e-01	4	9	0	85	2		0	0	0	0	0	2	1	1	69	313	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0895	23366	broad.mit.edu	37	7	36373480	36373480	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36373480C>A	ENST00000297063.6	-	5	1341	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000317020.6_Missense_Mutation_p.D380Y|KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895			26					TGGGAAGTATCAGTCCATCCC	0.413000																								0							SO:0001583	missense			ENST00000297063.6	1	1	hg19	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604059	0.87157	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.997	D;D;D;D;D	0.74674	0.984;0.984;0.984;0.958;0.933	D	0.85507	0.1195	9	0.87932	D	0	-21.055	18.7786	0.91922	0.0:1.0:0.0:0.0	.	428;328;431;418;380	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	Y	431;418;380;428;328;186	.	ENSP00000297063:D431Y	D	-	1	0	KIAA0895	36340005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.714000	0.54889	2.515000	0.84797	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	1	0	0	28	357	0	101	1	5.609480e-01	4	21	0	101	2		0	0	0	0	0	2	1	1	28	353	0	101	2								-8.414128	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.870000	0.590000	1.000000	1.000000	0.863305	0.870000	1	7.200000e-01	1
ANLN	54443	broad.mit.edu	37	7	36446155	36446155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36446155G>A	ENST00000265748.2	+	4	1074	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein			45					TTTGGTTAATGCCTCAATTTC	0.418000																								0							SO:0001583	missense			ENST00000265748.2	1	1	hg19	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317863	0.40996	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.04970	3.52;3.52	4.2	4.2	0.49525	.	1.274390	0.04880	N	0.447517	T	0.08492	0.0211	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.18013	0.025;0.004;0.008;0.004	B;B;B;B	0.18561	0.022;0.005;0.011;0.005	T	0.38286	-0.9668	10	0.15952	T	0.53	-0.0437	12.2415	0.54544	0.0:0.0:0.7926:0.2074	.	162;285;285;285	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	T	285	ENSP00000265748:A285T;ENSP00000379380:A285T	ENSP00000265748:A285T	A	+	1	0	ANLN	36412680	0.149000	0.22717	0.010000	0.14722	0.936000	0.57629	3.623000	0.54224	2.634000	0.89283	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	1	0	1	202	958	0	191	0	9.932801e-01	0	38	0	191	2		0	0	0	0	0	2	1	1	199	941	0	191	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANLN	54443	broad.mit.edu	37	7	36464161	36464161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36464161G>A	ENST00000265748.2	+	16	2832	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I	ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein			45					CAGGCAAGATGTATCCAATGA	0.294000																								0							SO:0001583	missense			ENST00000265748.2	1	1	hg19	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.2|27.2|27.2	4.811120|4.811120|4.811120	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000428612|ENST00000446635;ENST00000457743|ENST00000265748;ENST00000396068	.|.|T;T	.|.|0.39997	.|.|1.05;1.05	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.59742|0.59742|0.59742	0.2216|0.2216|0.2216	L|L|L	0.46741|0.46741|0.46741	1.465|1.465|1.465	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P;P;P	.|.|0.89917	.|.|1.0;0.937;0.923;0.937	.|.|D;P;P;P	.|.|0.87578	.|.|0.998;0.705;0.58;0.705	T|T|T	0.54268|0.54268|0.54268	-0.8319|-0.8319|-0.8319	5|5|10	.|.|0.41790	.|.|T	.|.|0.15	-13.8711|-13.8711|-13.8711	18.6005|18.6005|18.6005	0.91247|0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|748;833;834;871	.|.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.|.;.;.;ANLN_HUMAN	Y|I|I	35|224;74|871;834	.|.|ENSP00000265748:V871I;ENSP00000379380:V834I	.|.|ENSP00000265748:V871I	C|M|V	+|+|+	2|3|1	0|0|0	ANLN|ANLN|ANLN	36430686|36430686|36430686	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	6.776000|6.776000|6.776000	0.75023|0.75023|0.75023	2.741000|2.741000|2.741000	0.93983|0.93983|0.93983	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	TGT|ATG|GTA		TCGA-IB-7651-01A-11D-2154-08	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	1	0	1	15	117	0	46	1	9.867095e-01	13	46	0	46	2		0	0	0	0	0	2	1	9.998927e-01	15	115	0	46	2								-8.634480	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.986154	0.990000	1	9.900000e-01	1
ANLN	54443	broad.mit.edu	37	7	36489433	36489433	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36489433C>A	ENST00000265748.2	+	23	3459	c.3238C>A	c.(3238-3240)Ctc>Atc	p.L1080I	ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein			45					CAGGGACACACTCTGTGTTAC	0.393000																								0							SO:0001583	missense			ENST00000265748.2	1	1	hg19	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911644	0.72983	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.13538	2.58;2.6	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.121557	0.56097	D	0.000025	T	0.26702	0.0653	N	0.25890	0.77	0.54753	D	0.999981	D;P;P;P	0.67145	0.996;0.631;0.577;0.631	D;P;B;P	0.80764	0.994;0.579;0.443;0.579	T	0.01301	-1.1391	10	0.44086	T	0.13	-8.1585	18.4774	0.90798	0.0:1.0:0.0:0.0	.	957;1042;1043;1080	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	I	1080;1043	ENSP00000265748:L1080I;ENSP00000379380:L1043I	ENSP00000265748:L1080I	L	+	1	0	ANLN	36455958	0.906000	0.30813	0.923000	0.36655	0.973000	0.67179	1.935000	0.40173	2.665000	0.90641	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	1	0	1	58	228	0	53	1	9.999998e-01	54	39	0	53	2		0	0	0	0	0	2	1	1	58	226	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AOAH	313	broad.mit.edu	37	7	36763722	36763722	+	Missense_Mutation	SNP	G	G	A	rs144897559	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36763722G>A	ENST00000258749.5	-	1	431	c.32C>T	c.(31-33)gCg>gTg	p.A11V	AOAH_ENST00000431169.1_Missense_Mutation_p.A11V|AOAH_ENST00000535891.1_Missense_Mutation_p.A11V	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)			41					GAATAGAGGCGCCACCGTAAG	0.582000																								0							SO:0001583	missense			ENST00000258749.5	1	0	hg19	CCDS5448.1	11	0.005036630036630037	0	0.0	7	0.019337016574585635	0	0.0	4	0.005277044854881266	G	7.460	0.644403	0.14451	6.81E-4	0.004884	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647;ENST00000435386	T;T;T;T	0.79554	1.6;-1.16;-1.28;0.61	4.01	1.04	0.20106	.	0.711311	0.11943	N	0.514456	T	0.51941	0.1704	.	.	.	0.09310	N	1	B;B;B	0.18968	0.001;0.032;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.50499	-0.8821	9	0.46703	T	0.11	-12.918	5.7529	0.18156	0.3858:0.0:0.6142:0.0	.	11;11;11	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	V	11	ENSP00000441101:A11V;ENSP00000258749:A11V;ENSP00000405683:A11V;ENSP00000416051:A11V	ENSP00000258749:A11V	A	-	2	0	AOAH	36730247	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.007000	0.29860	0.086000	0.17137	-0.143000	0.13931	GCG		TCGA-IB-7651-01A-11D-2154-08	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	0	0	1	42	232	0	57	0	9.992719e-01	0	63	0	57	2		0	0	0	0	0	2	1	1	42	228	0	56	2								-3.857613	1	1	121410	346	57	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ELMO1	9844	broad.mit.edu	37	7	36895162	36895162	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36895162A>G	ENST00000310758.4	-	22	2825	c.2178T>C	c.(2176-2178)tgT>tgC	p.C726C	ELMO1_ENST00000396040.2_Silent_p.C246C|ELMO1_ENST00000442504.1_Silent_p.C726C|ELMO1_ENST00000448602.1_Silent_p.C726C|ELMO1_ENST00000341056.3_Silent_p.C428C|ELMO1_ENST00000396045.3_Silent_p.C246C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1			58					CACTTCAGTTACAGTCATAGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000310758.4	1	1	hg19	CCDS5449.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	0	0	0	23	576	0	143	0	7.146833e-01	0	64	0	143	2		0	0	0	0	0	2	1	9.999991e-01	22	561	0	143	2								-4.231640	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.460000	0.290000	1.000000	0.460000	0.498494	0.460000	0	3.700000e-01	5.900000e-01
ELMO1	9844	broad.mit.edu	37	7	36901286	36901286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36901286A>C	ENST00000310758.4	-	21	2608	c.1961T>G	c.(1960-1962)tTc>tGc	p.F654C	ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C|ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C|ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1			58					AGGAGCGATGAAGTTCAGTTG	0.388000																								0							SO:0001583	missense			ENST00000310758.4	1	1	hg19	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516722	0.85495	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	M	0.83692	2.655	0.80722	D	1	D	0.61697	0.99	P	0.59643	0.861	D	0.84087	0.0388	10	0.66056	D	0.02	.	15.7652	0.78120	1.0:0.0:0.0:0.0	.	654	Q92556	ELMO1_HUMAN	C	356;174;654;558;174;654;654	ENSP00000342142:F356C;ENSP00000379360:F174C;ENSP00000312185:F654C;ENSP00000379355:F174C;ENSP00000406952:F654C;ENSP00000394458:F654C	ENSP00000312185:F654C	F	-	2	0	ELMO1	36867811	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	TTC		TCGA-IB-7651-01A-11D-2154-08	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	1	0	1	156	621	0	223	0	9.995711e-01	0	47	0	223	2		0	0	0	0	0	2	1	1	153	615	0	221	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELMO1	9844	broad.mit.edu	37	7	37264604	37264604	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37264604T>A	ENST00000310758.4	-	9	1228	c.581A>T	c.(580-582)gAc>gTc	p.D194V	ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V|ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1			58					GATCGAGATGTCTATGGCTGA	0.502000																								0							SO:0001583	missense			ENST00000310758.4	1	1	hg19	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627058	0.87560	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.56275	0.47;0.47;0.47	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.76926	-0.2778	10	0.72032	D	0.01	.	15.7355	0.77839	0.0:0.0:0.0:1.0	.	194	Q92556	ELMO1_HUMAN	V	194;98;194;194	ENSP00000312185:D194V;ENSP00000406952:D194V;ENSP00000394458:D194V	ENSP00000312185:D194V	D	-	2	0	ELMO1	37231129	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	8.036000	0.88901	2.175000	0.68902	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	1	0	1	34	183	0	55	0	9.693211e-01	0	33	0	55	2		0	0	0	0	0	2	1	1	33	178	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
GPR141	353345	broad.mit.edu	37	7	37780137	37780137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37780137C>T	ENST00000447769.1	+	4	431	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R48W			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	p.R48R(1)		32					AATGAACACCCGGTCAGTGAC	0.488000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000447769.1	1	1	hg19	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346981	0.41599	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.45276	0.9;0.9;0.9	5.18	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.403678	0.24384	N	0.038998	T	0.33818	0.0876	M	0.68952	2.095	0.09310	N	1	P	0.49090	0.919	B	0.37833	0.259	T	0.24728	-1.0152	10	0.30854	T	0.27	-16.3663	7.0848	0.25252	0.3405:0.5746:0.0:0.0849	.	48	Q7Z602	GP141_HUMAN	W	48	ENSP00000396300:R48W;ENSP00000390410:R48W;ENSP00000334540:R48W	ENSP00000334540:R48W	R	+	1	2	GPR141	37746662	0.010000	0.17322	0.979000	0.43373	0.993000	0.82548	0.413000	0.21148	1.249000	0.43950	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	0	0	0	14	433	0	78	0	4.358281e-02	0	10	0	78	2		0	0	0	0	0	2	1	9.997428e-01	14	429	0	77	2								-2.473695	0	1	121412	1	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.380000	0.210000	1.000000	0.370000	0.425146	0.380000	0	2.900000e-01	5.200000e-01
SFRP4	6424	broad.mit.edu	37	7	37955920	37955920	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37955920G>A	ENST00000436072.2	-	1	597	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4			29					AGGAAGAAGCGCAGCACGGCG	0.637000																								0							SO:0001583	missense			ENST00000436072.2	1	1	hg19	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922280	0.73213	.	.	ENSG00000106483	ENST00000436072	T	0.76839	-1.05	4.36	4.36	0.52297	Frizzled domain (5);	0.129212	0.53938	D	0.000042	D	0.85383	0.5684	M	0.78801	2.425	0.41915	D	0.990483	D	0.69078	0.997	P	0.61592	0.891	D	0.87268	0.2284	10	0.66056	D	0.02	.	12.3128	0.54938	0.0:0.1722:0.8278:0.0	.	74	Q6FHJ7	SFRP4_HUMAN	C	74	ENSP00000410715:R74C	ENSP00000410715:R74C	R	-	1	0	SFRP4	37922445	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.048000	0.49862	2.251000	0.74343	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	1	0	1	39	285	0	68	0	1	0	357	0	68	2		0	0	0	0	0	2	1	1	38	282	0	68	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999262	0.990000	1	9.900000e-01	1
EPDR1	54749	broad.mit.edu	37	7	37988649	37988649	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37988649C>A	ENST00000199448.4	+	2	856	c.477C>A	c.(475-477)tcC>tcA	p.S159S	EPDR1_ENST00000425345.1_Splice_Site_p.S98S|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Splice_Site_p.S57S|EPDR1_ENST00000559325.1_Splice_Site_p.S279S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1			22					CAGCTAGATCCTGTAAGGGTT	0.463000																								0							SO:0001630	splice_region_variant			ENST00000199448.4	1	0	hg19	CCDS5454.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	1	0	0	66	252	0	57	0	9.999963e-01	0	73	0	57	2		0	0	0	0	0	2	1	1	63	244	0	57	2								-3.533761	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STARD3NL	83930	broad.mit.edu	37	7	38254645	38254645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38254645G>A	ENST00000009041.7	+	4	577	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	STARD3NL_ENST00000434197.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000396013.1_Missense_Mutation_p.R107Q	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like			10					GCAGTTTTTCGATTTAAAGTG	0.403000																								0							SO:0001583	missense			ENST00000009041.7	1	1	hg19	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193617	0.94960	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.06	0.68205	MENTAL domain (2);	0.055444	0.64402	N	0.000001	T	0.81772	0.4893	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85473	0.1174	10	0.87932	D	0	-3.4597	13.9587	0.64166	0.0737:0.0:0.9263:0.0	.	107;107	C9JKL2;O95772	.;MENTO_HUMAN	Q	107;100;107;107;107;107;107	ENSP00000009041:R107Q;ENSP00000439436:R100Q;ENSP00000394000:R107Q;ENSP00000379334:R107Q;ENSP00000411933:R107Q;ENSP00000395455:R107Q;ENSP00000402028:R107Q	ENSP00000009041:R107Q	R	+	2	0	STARD3NL	38221170	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.428000	0.97476	1.514000	0.48869	0.643000	0.83706	CGA		TCGA-IB-7651-01A-11D-2154-08	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2	0	0	0	49	216	0	45	1	9.999999e-01	22	89	0	45	2		0	0	0	0	0	2	1	1	49	215	0	45	2								-20.000000	1	0	121394	1	26	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMPH	273	broad.mit.edu	37	7	38475924	38475924	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38475924G>A	ENST00000356264.2	-	12	1297	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	AMPH_ENST00000428293.2_Missense_Mutation_p.P361L|AMPH_ENST00000325590.5_Missense_Mutation_p.P361L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin			62					TGTCACCTCGGGCTTGAAAGG	0.433000																								0							SO:0001583	missense			ENST00000356264.2	1	1	hg19	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924949	0.73213	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.72051	-0.62;-0.62;-0.62	5.54	4.65	0.58169	.	0.185220	0.47852	D	0.000205	D	0.82453	0.5040	M	0.70275	2.135	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.903	D;D;B	0.91635	0.999;0.999;0.351	D	0.83511	0.0080	10	0.56958	D	0.05	-7.7829	14.7794	0.69754	0.0705:0.0:0.9295:0.0	.	361;361;117	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	L	361;361;361;131;364	ENSP00000317441:P361L;ENSP00000348602:P361L;ENSP00000390734:P361L	ENSP00000317441:P361L	P	-	2	0	AMPH	38442449	1.000000	0.71417	0.961000	0.40146	0.733000	0.41908	5.157000	0.64911	2.609000	0.88269	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	1	0	1	37	181	0	52	0	2.093595e-01	0	5	0	52	2		0	0	0	0	0	2	1	1	37	177	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
AMPH	273	broad.mit.edu	37	7	38502604	38502604	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38502604C>T	ENST00000356264.2	-	10	1074	c.859G>A	c.(859-861)Gca>Aca	p.A287T	AMPH_ENST00000428293.2_Missense_Mutation_p.A287T|AMPH_ENST00000325590.5_Missense_Mutation_p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	p.A287T(1)		62					CGTGCTGGTGCGGGAGACGCA	0.547000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000356264.2	1	1	hg19	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.284931|4.284931	0.80803|0.80803	2.27E-4|2.27E-4	0.0|0.0	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	0.051594|.	0.85682|.	D|.	0.000000|.	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.54323|0.54323	1.7|1.7	0.50313|0.50313	D|D	0.999864|0.999864	D;D;P|.	0.89917|.	1.0;1.0;0.887|.	D;D;B|.	0.65684|.	0.937;0.91;0.116|.	T|T	0.67405|0.67405	-0.5679|-0.5679	10|5	0.23891|.	T|.	0.37|.	-16.4707|-16.4707	15.5723|15.5723	0.76349|0.76349	0.0:0.9345:0.0:0.0655|0.0:0.9345:0.0:0.0655	.|.	287;287;43|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	T|H	287;287;287;57;290|37	ENSP00000317441:A287T;ENSP00000348602:A287T;ENSP00000390734:A287T|.	ENSP00000317441:A287T|.	A|R	-|-	1|2	0|0	AMPH|AMPH	38469129|38469129	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.591000|0.591000	0.36615|0.36615	6.321000|6.321000	0.72881|0.72881	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-IB-7651-01A-11D-2154-08	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	1	0	1	105	465	0	98	0	6.783516e-01	0	12	0	98	2		0	0	0	0	0	2	1	1	102	453	0	96	2								-3.104909	1	1	121380	1	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMPH	273	broad.mit.edu	37	7	38543262	38543262	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38543262C>A	ENST00000356264.2	-	3	408	c.193G>T	c.(193-195)Gca>Tca	p.A65S	AMPH_ENST00000428293.2_Missense_Mutation_p.A65S|AMPH_ENST00000325590.5_Missense_Mutation_p.A65S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin			62					TTGATTGCTGCTAAATATCCT	0.378000																								0							SO:0001583	missense			ENST00000356264.2	1	1	hg19	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089838	0.55968	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.62639	0.01;0.01;0.01	5.92	5.04	0.67666	BAR (3);	0.184681	0.47455	D	0.000226	T	0.57051	0.2027	L	0.36672	1.1	0.44485	D	0.997425	B;B	0.25850	0.054;0.136	B;B	0.39531	0.139;0.302	T	0.50516	-0.8819	10	0.15499	T	0.54	-13.998	12.5297	0.56106	0.0:0.9217:0.0:0.0783	.	65;65	P49418-2;P49418	.;AMPH_HUMAN	S	65	ENSP00000317441:A65S;ENSP00000348602:A65S;ENSP00000390734:A65S	ENSP00000317441:A65S	A	-	1	0	AMPH	38509787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.150000	0.50662	1.513000	0.48852	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	1	0	0	32	433	0	94	0	2.604201e-01	0	14	0	94	2		0	0	0	0	0	2	1	1	31	417	0	94	2								-8.299122	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.820000	0.570000	1.000000	1.000000	0.829192	0.820000	0	6.800000e-01	1
CDK13	8621	broad.mit.edu	37	7	39991439	39991439	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:39991439G>T	ENST00000181839.4	+	1	1804	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	CDK13_ENST00000340829.5_Missense_Mutation_p.S400I|RP11-467D6.1_ENST00000569710.1_RNA	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13			49					AGTCCCTACAGCCCTGTGCTC	0.662000																								0							SO:0001583	missense			ENST00000181839.4	1	1	hg19	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179393	0.38511	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.69435	-0.4;-0.4	4.8	4.8	0.61643	.	.	.	.	.	T	0.66954	0.2842	L	0.36672	1.1	0.54753	D	0.999985	P;P	0.47677	0.899;0.838	P;P	0.51355	0.667;0.466	T	0.65134	-0.6242	8	.	.	.	-1.6856	16.4026	0.83647	0.0:0.0:1.0:0.0	.	400;400	Q14004-2;Q14004	.;CDK13_HUMAN	I	400	ENSP00000181839:S400I;ENSP00000340557:S400I	.	S	+	2	0	CDK13	39957964	1.000000	0.71417	0.996000	0.52242	0.238000	0.25445	7.157000	0.77461	2.343000	0.79666	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	1	0	1	46	273	0	54	1	9.957213e-01	16	36	0	54	2		0	0	0	0	0	2	1	1	45	268	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
SDK1	221935	broad.mit.edu	37	7	4002385	4002385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4002385G>A	ENST00000404826.2	+	9	1470	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	p.R444H(1)		153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			GGAGGCCTGCGCATCCAGAAG	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000404826.2	1	1	hg19	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610179	0.28712	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.69040	-0.37;-0.37	5.34	2.47	0.30058	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260591	0.33217	N	0.005157	T	0.51058	0.1652	L	0.31926	0.97	0.24963	N	0.991715	B	0.18166	0.026	B	0.09377	0.004	T	0.42413	-0.9453	10	0.40728	T	0.16	.	9.158	0.37005	0.3009:0.0:0.6991:0.0	.	444	Q7Z5N4	SDK1_HUMAN	H	444	ENSP00000385899:R444H;ENSP00000374182:R444H	ENSP00000374182:R444H	R	+	2	0	SDK1	3968911	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.932000	0.40143	0.711000	0.32018	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1	28	114	0	43	0	7.575032e-01	0	13	0	43	2		0	0	0	0	0	2	1	1	28	112	0	42	2								-20.000000	1	1	121412	7	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SDK1	221935	broad.mit.edu	37	7	4011159	4011159	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4011159G>A	ENST00000404826.2	+	12	1915	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	SDK1_ENST00000389531.3_Silent_p.T592T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			CCACGGCCACGCTGCACTGTG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000404826.2	1	1	hg19	CCDS34590.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	0	11	112	0	29	0	3.213925e-01	0	12	0	29	2		0	0	0	0	0	2	1	9.985199e-01	11	111	0	29	2								-16.494480	1	1	121408	1	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.580000	1.000000	1.000000	0.929767	0.990000	1	8.000000e-01	1
C7orf10	0	broad.mit.edu	37	7	40234621	40234621	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40234621A>C	ENST00000335693.4	+	6	490	c.467A>C	c.(466-468)gAc>gCc	p.D156A	C7orf10_ENST00000540834.1_Missense_Mutation_p.D149A|C7orf10_ENST00000401647.2_Missense_Mutation_p.D156A|C7orf10_ENST00000309930.5_Missense_Mutation_p.D156A	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN				18					GAAGATATAGACGAGATTGCT	0.433000																								0							SO:0001583	missense			ENST00000335693.4	1	1	hg19	CCDS55105.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	11.23|11.23|11.23	1.578858|1.578858|1.578858	0.28180|0.28180|0.28180	.|.|.	.|.|.	ENSG00000175600|ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931|ENST00000416370	T;T;T;T|.|.	0.51817|.|.	0.69;0.69;0.69;0.69|.|.	5.76|5.76|5.76	4.59|4.59|4.59	0.56863|0.56863|0.56863	CoA-transferase family III domain (2);|.|.	0.624559|.|.	0.18514|.|.	N|.|.	0.138967|.|.	T|T|T	0.09905|0.09905|0.09905	0.0243|0.0243|0.0243	N|N|N	0.00395|0.00395|0.00395	-1.55|-1.55|-1.55	0.31603|0.31603|0.31603	N|N|N	0.652456|0.652456|0.652456	B;B|.|.	0.11235|.|.	0.004;0.001|.|.	B;B|.|.	0.17098|.|.	0.017;0.017|.|.	T|T|T	0.09143|0.09143|0.09143	-1.0688|-1.0688|-1.0688	10|5|5	0.44086|.|.	T|.|.	0.13|.|.	-7.9835|-7.9835|-7.9835	11.2341|11.2341|11.2341	0.48929|0.48929|0.48929	0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0	.|.|.	156;156|.|.	Q4KMW8;Q9HAC7|.|.	.;CG010_HUMAN|.|.	A|S|P	156;156;156;149|167|151	ENSP00000312054:D156A;ENSP00000385222:D156A;ENSP00000338475:D156A;ENSP00000445521:D149A|.|.	ENSP00000312054:D156A|.|.	D|R|T	+|+|+	2|3|1	0|2|0	C7orf10|C7orf10|C7orf10	40201146|40201146|40201146	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	0.973000|0.973000|0.973000	0.42090|0.42090|0.42090	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	3.322000|3.322000|3.322000	0.52007|0.52007|0.52007	2.192000|2.192000|2.192000	0.70111|0.70111|0.70111	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAC|AGA|ACG		TCGA-IB-7651-01A-11D-2154-08	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1	1	0	1	139	695	0	162	1	8.856826e-01	2	19	0	162	2		0	0	0	0	0	2	1	1	132	681	0	162	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C7orf10	0	broad.mit.edu	37	7	40498706	40498706	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40498706G>T	ENST00000335693.4	+	11	939	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y|C7orf10_ENST00000309930.5_Missense_Mutation_p.D306Y	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN				18					TTAGATCTTGGATTTGCCTGA	0.353000																								0							SO:0001583	missense			ENST00000335693.4	1	1	hg19	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.071975|2.071975	0.36566|0.36566	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	D;T;T|.	0.86694|.	-2.16;0.57;0.57|.	5.27|5.27	4.05|4.05	0.47172|0.47172	CoA-transferase family III domain (2);|.	0.510359|.	0.22065|.	N|.	0.065115|.	T|T	0.56108|0.56108	0.1963|0.1963	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33288|.	0.112;0.099;0.406|.	B;B;B|.	0.39738|.	0.106;0.106;0.308|.	T|T	0.51371|0.51371	-0.8714|-0.8714	10|5	0.87932|.	D|.	0|.	-7.2111|-7.2111	6.9227|6.9227	0.24397|0.24397	0.8767:0.0:0.1233:0.0|0.8767:0.0:0.1233:0.0	.|.	258;306;269|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	Y|C	306;258;306|300	ENSP00000312054:D306Y;ENSP00000385222:D258Y;ENSP00000338475:D306Y|.	ENSP00000312054:D306Y|.	D|W	+|+	1|3	0|0	C7orf10|C7orf10	40465231|40465231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	2.635000|2.635000	0.46537|0.46537	0.856000|0.856000	0.35383|0.35383	-0.345000|-0.345000	0.07892|0.07892	GAT|TGG		TCGA-IB-7651-01A-11D-2154-08	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1	1	0	0	26	131	0	35	1	9.628486e-01	2	28	0	35	2		0	0	0	0	0	2	1	1	26	128	0	35	2								-20.000000	1	1	120752	2	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
SDK1	221935	broad.mit.edu	37	7	4091441	4091441	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4091441C>A	ENST00000404826.2	+	19	3029	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	SDK1_ENST00000389531.3_Missense_Mutation_p.L964M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			CACACCTCAGCTGGTCTGGAC	0.522000																								0							SO:0001583	missense			ENST00000404826.2	1	1	hg19	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242853	0.22796	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55052	0.54;0.54	5.62	5.62	0.85841	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.74658	0.3745	M	0.83384	2.64	0.42244	D	0.991944	P;D	0.63880	0.555;0.993	P;D	0.66084	0.587;0.941	T	0.74365	-0.3689	10	0.38643	T	0.18	.	19.69	0.95996	0.0:1.0:0.0:0.0	.	964;964	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	964	ENSP00000385899:L964M;ENSP00000374182:L964M	ENSP00000374182:L964M	L	+	1	2	SDK1	4057967	1.000000	0.71417	0.991000	0.47740	0.519000	0.34347	3.111000	0.50360	2.648000	0.89879	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1	94	526	0	124	0	4.085115e-01	1	8	0	124	2		0	0	0	0	0	2	1	1	93	509	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLI3	2737	broad.mit.edu	37	7	42005103	42005103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005103C>T	ENST00000395925.3	-	15	3652	c.3568G>A	c.(3568-3570)Gcc>Acc	p.A1190T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3			112					AACCCAAAGGCGCGAGTCTGC	0.657000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly															0							SO:0001583	missense	Familial Cancer Database	;	ENST00000395925.3	1	1	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693048	0.48202	.	.	ENSG00000106571	ENST00000395925	T	0.15256	2.44	5.57	5.57	0.84162	.	0.152938	0.64402	D	0.000016	T	0.10981	0.0268	L	0.38175	1.15	0.80722	D	1	B	0.18610	0.029	B	0.08055	0.003	T	0.07908	-1.0748	10	0.02654	T	1	.	9.4972	0.38995	0.0:0.7812:0.1441:0.0747	.	1190	P10071	GLI3_HUMAN	T	1190	ENSP00000379258:A1190T	ENSP00000379258:A1190T	A	-	1	0	GLI3	41971628	0.170000	0.23016	0.039000	0.18376	0.212000	0.24457	0.601000	0.24119	2.610000	0.88304	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	1	0	1	175	653	0	125	0	5.299545e-01	0	8	0	125	2		0	0	0	0	0	2	1	1	172	644	0	123	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLI3	2737	broad.mit.edu	37	7	42005127	42005127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005127G>A	ENST00000395925.3	-	15	3628	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	p.R1182W(1)		112					ACAGCGGGCCGCGGCCCACAC	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	;	ENST00000395925.3	1	1	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555839	0.27827	.	.	ENSG00000106571	ENST00000395925	T	0.13657	2.57	5.67	1.61	0.23674	.	0.106556	0.64402	D	0.000002	T	0.20941	0.0504	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.00230	-1.1897	10	0.37606	T	0.19	.	15.1565	0.72746	0.0:0.0:0.5137:0.4863	.	1182	P10071	GLI3_HUMAN	W	1182	ENSP00000379258:R1182W	ENSP00000379258:R1182W	R	-	1	2	GLI3	41971652	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	3.290000	0.51755	0.008000	0.14787	-0.311000	0.09066	CGG		TCGA-IB-7651-01A-11D-2154-08	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	1	0	1	165	820	0	141	0	3.344654e-01	0	7	0	141	2		0	0	0	0	0	2	1	1	165	806	0	138	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLI3	2737	broad.mit.edu	37	7	42005592	42005592	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005592G>T	ENST00000395925.3	-	15	3163	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3			112					CAGCTGCTGAGGCTGCTGAAG	0.716000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly															0							SO:0001583	missense	Familial Cancer Database	;	ENST00000395925.3	1	1	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622484	0.46840	.	.	ENSG00000106571	ENST00000395925	T	0.16743	2.32	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	M	0.70595	2.14	0.80722	D	1	P	0.37824	0.609	B	0.37601	0.254	T	0.03384	-1.1042	10	0.46703	T	0.11	.	19.025	0.92929	0.0:0.0:1.0:0.0	.	1027	P10071	GLI3_HUMAN	I	1027	ENSP00000379258:L1027I	ENSP00000379258:L1027I	L	-	1	0	GLI3	41972117	1.000000	0.71417	0.979000	0.43373	0.014000	0.08584	4.491000	0.60326	2.473000	0.83533	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	1	0	0	36	140	0	15	0	1.946174e-01	0	4	0	15	2		0	0	0	0	0	2	1	1	36	139	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDK1	221935	broad.mit.edu	37	7	4213928	4213928	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4213928C>T	ENST00000404826.2	+	33	5014	c.4875C>T	c.(4873-4875)gcC>gcT	p.A1625A	SDK1_ENST00000389531.3_Silent_p.A1625A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			AGTATGAAGCCGGGTCAGGCA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000404826.2	1	1	hg19	CCDS34590.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1	226	961	0	260	1	8.823156e-01	4	14	0	260	2		0	0	0	0	0	2	1	1	226	947	0	257	2								-3.245688	1	1	121412	11	46	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDK1	221935	broad.mit.edu	37	7	4285374	4285374	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4285374C>T	ENST00000404826.2	+	44	6457	c.6318C>T	c.(6316-6318)aaC>aaT	p.N2106N	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.N2086N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			ACAAGTACAACGGCGCCGTGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000404826.2	1	1	hg19	CCDS34590.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1	64	298	0	76	0	6.984657e-01	1	12	0	76	2		0	0	0	0	0	2	1	1	64	292	0	74	2								-20.000000	1	1	121412	3	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C7orf25	79020	broad.mit.edu	37	7	42949409	42949409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949409G>A	ENST00000350427.4	-	2	1366	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M|C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25			17					GGTGTCTCCCGTCCCAAAAAT	0.433000																								0							SO:0001583	missense			ENST00000350427.4	1	1	hg19	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362771	0.61403	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.96	5.08	0.68730	.	0.047210	0.85682	D	0.000000	T	0.68622	0.3021	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.69510	-0.5126	10	0.36615	T	0.2	0.09	15.14	0.72604	0.0675:0.0:0.9325:0.0	.	422;364	B4DQM3;Q9BPX7	.;CG025_HUMAN	M	364;364;422;364	ENSP00000343364:T364M;ENSP00000413029:T364M;ENSP00000416290:T422M;ENSP00000396597:T364M	ENSP00000343364:T364M	T	-	2	0	C7orf25	42915934	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.471000	0.97696	1.525000	0.49052	-0.136000	0.14681	ACG		TCGA-IB-7651-01A-11D-2154-08	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	1	0	1	43	304	0	74	1	9.994654e-01	25	57	0	74	2		0	0	0	0	0	2	1	1	43	300	0	74	2								-17.498610	1	1	121412	10	40	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999696	0.990000	1	9.900000e-01	1
C7orf25	79020	broad.mit.edu	37	7	42949837	42949837	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949837C>T	ENST00000350427.4	-	2	938	c.663G>A	c.(661-663)caG>caA	p.Q221Q	C7orf25_ENST00000431882.2_Silent_p.Q279Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.Q221Q|C7orf25_ENST00000438029.1_Silent_p.Q221Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25			17					CTCTGGTCACCTGCAAAAGTT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000350427.4	1	1	hg19	CCDS5466.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	1	0	1	58	244	0	74	1	9.999997e-01	29	68	0	74	2		0	0	0	0	0	2	1	1	57	236	0	74	2								-3.434086	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C7orf25	79020	broad.mit.edu	37	7	42949923	42949923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949923C>T	ENST00000350427.4	-	2	852	c.577G>A	c.(577-579)Gta>Ata	p.V193I	C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25			17					TTGACTGCTACTATGTCTCCT	0.468000																								0							SO:0001583	missense			ENST00000350427.4	1	1	hg19	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077554	0.36662	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.48522	0.85;0.85;0.81;0.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.29908	0.895	0.80722	D	1	P;P	0.36086	0.476;0.536	B;B	0.32393	0.145;0.134	T	0.13308	-1.0514	10	0.12430	T	0.62	-15.6413	20.1083	0.97900	0.0:1.0:0.0:0.0	.	251;193	B4DQM3;Q9BPX7	.;CG025_HUMAN	I	193;193;251;193	ENSP00000343364:V193I;ENSP00000413029:V193I;ENSP00000416290:V251I;ENSP00000396597:V193I	ENSP00000343364:V193I	V	-	1	0	C7orf25	42916448	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	7.484000	0.81180	2.764000	0.94973	0.556000	0.70494	GTA		TCGA-IB-7651-01A-11D-2154-08	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	1	0	1	60	288	0	58	1	9.999992e-01	24	77	0	58	2		0	0	0	0	0	2	1	1	60	283	0	57	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C7orf25	79020	broad.mit.edu	37	7	42950303	42950303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42950303C>T	ENST00000350427.4	-	2	472	c.197G>A	c.(196-198)aGc>aAc	p.S66N	C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N|C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	p.S66N(1)		17					TAGGTTAGTGCTCTGTAAATG	0.403000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000350427.4	1	1	hg19	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605821	0.66445	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683;ENST00000421724;ENST00000432637	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.82823	2.61	0.80722	D	1	B;B;D	0.89917	0.085;0.085;1.0	B;B;D	0.79784	0.072;0.072;0.993	T	0.78685	-0.2108	10	0.87932	D	0	-19.246	14.2576	0.66062	0.0:0.9285:0.0:0.0715	.	66;124;66	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	N	66;66;124;66;66;80;66	ENSP00000343364:S66N;ENSP00000413029:S66N;ENSP00000416290:S124N;ENSP00000396597:S66N;ENSP00000413106:S66N;ENSP00000416542:S66N	ENSP00000343364:S66N	S	-	2	0	C7orf25	42916828	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.456000	0.80751	1.348000	0.45733	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	1	0	1	153	604	0	158	1	9.999876e-01	16	49	0	158	2		0	0	0	0	0	2	1	1	151	590	0	158	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMA2	5683	broad.mit.edu	37	7	42957219	42957219	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42957219C>A	ENST00000223321.4	-	8	723	c.659G>T	c.(658-660)aGg>aTg	p.R220M	PSMA2_ENST00000442788.1_Missense_Mutation_p.R220M|PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2			10					TGGAGTAAGCCTCCTAAATCC	0.378000																								0							SO:0001583	missense			ENST00000223321.4	1	1	hg19	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886810	0.72410	.	.	ENSG00000106588	ENST00000223321;ENST00000445517	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.69248	2.105	0.80722	D	1	B	0.24368	0.102	B	0.32289	0.143	T	0.42172	-0.9467	10	0.39692	T	0.17	.	19.8546	0.96752	0.0:1.0:0.0:0.0	.	220	P25787	PSA2_HUMAN	M	220;150	ENSP00000223321:R220M;ENSP00000404858:R150M	ENSP00000223321:R220M	R	-	2	0	PSMA2	42923744	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	1	0	1	57	192	0	54	1	1	224	551	0	54	2		0	0	0	0	0	2	1	1	55	189	0	54	2								-4.243457	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW1	23072	broad.mit.edu	37	7	43483972	43483972	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43483972G>C	ENST00000395891.2	+	11	1806	c.1201G>C	c.(1201-1203)Gtc>Ctc	p.V401L	HECW1_ENST00000453890.1_Missense_Mutation_p.V401L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					TGAGGGCAGTGTCCCCGATGG	0.602000																								0							SO:0001583	missense			ENST00000395891.2	1	1	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	5.891	0.348572	0.11126	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.29142	1.58;1.58	5.4	1.27	0.21489	.	8.972470	0.00166	N	0.000000	T	0.18635	0.0447	N	0.22421	0.69	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.11329	0.006;0.002	T	0.12451	-1.0547	10	0.09084	T	0.74	.	2.8098	0.05438	0.1378:0.1234:0.4846:0.2543	.	401;401	B4DH42;Q76N89	.;HECW1_HUMAN	L	401	ENSP00000379228:V401L;ENSP00000407774:V401L	ENSP00000265522:V401L	V	+	1	0	HECW1	43450497	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.366000	0.20365	0.331000	0.23511	-0.182000	0.12963	GTC		TCGA-IB-7651-01A-11D-2154-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	1	45	229	0	45	0	1.973877e-01	0	5	0	45	2		0	0	0	0	0	2	1	1	43	224	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW1	23072	broad.mit.edu	37	7	43484384	43484384	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484384C>A	ENST00000395891.2	+	11	2218	c.1613C>A	c.(1612-1614)cCt>cAt	p.P538H	HECW1_ENST00000453890.1_Missense_Mutation_p.P538H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					TGCTCCTTGCCTGTGTCCGAG	0.657000																								0							SO:0001583	missense			ENST00000395891.2	1	1	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.471918	0.43942	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.63913	1.02;-0.07	5.32	3.53	0.40419	.	1.104460	0.06890	N	0.804018	T	0.71745	0.3376	L	0.59436	1.845	0.52099	D	0.999947	D;D	0.58970	0.984;0.984	P;P	0.54372	0.75;0.75	T	0.61212	-0.7108	10	0.87932	D	0	.	11.6784	0.51442	0.0:0.8567:0.0:0.1433	.	538;538	B4DH42;Q76N89	.;HECW1_HUMAN	H	538	ENSP00000379228:P538H;ENSP00000407774:P538H	ENSP00000265522:P538H	P	+	2	0	HECW1	43450909	1.000000	0.71417	0.010000	0.14722	0.236000	0.25371	4.701000	0.61810	0.635000	0.30488	-0.136000	0.14681	CCT		TCGA-IB-7651-01A-11D-2154-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	0	0	10	273	0	46	0	2.137254e-02	0	5	0	46	2		0	0	0	0	0	2	1	9.969680e-01	10	272	0	45	2								-11.419140	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.440000	0.220000	1.000000	0.410000	0.479868	0.440000	0	3.100000e-01	6.200000e-01
HECW1	23072	broad.mit.edu	37	7	43484460	43484460	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484460C>T	ENST00000395891.2	+	11	2294	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	HECW1_ENST00000453890.1_Silent_p.I563I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					ACATCCGCATCCACACCCTGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000395891.2	1	1	hg19	CCDS5469.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	1	70	388	0	86	0	3.562986e-01	0	8	0	86	2		0	0	0	0	0	2	1	1	69	383	0	82	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW1	23072	broad.mit.edu	37	7	43484963	43484963	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484963C>T	ENST00000395891.2	+	11	2797	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	HECW1_ENST00000453890.1_Missense_Mutation_p.T731M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					TCCGAGAGCACGGTCTTCTCC	0.632000																								0							SO:0001583	missense			ENST00000395891.2	1	1	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543382	0.86022	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.46819	1.3;0.86	4.62	4.62	0.57501	.	0.419197	0.26812	N	0.022366	T	0.60495	0.2273	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	T	0.63844	-0.6545	10	0.56958	D	0.05	.	17.4549	0.87604	0.0:1.0:0.0:0.0	.	731;731	B4DH42;Q76N89	.;HECW1_HUMAN	M	731	ENSP00000379228:T731M;ENSP00000407774:T731M	ENSP00000265522:T731M	T	+	2	0	HECW1	43451488	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	7.567000	0.82357	2.106000	0.64143	0.591000	0.81541	ACG		TCGA-IB-7651-01A-11D-2154-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	0	29	612	0	105	0	1.260095e-02	0	4	0	105	2		0	0	0	0	0	2	1	1	29	603	0	103	2								-3.077337	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.540000	0.360000	1.000000	0.540000	0.573298	0.540000	0	4.400000e-01	6.700000e-01
HECW1	23072	broad.mit.edu	37	7	43490509	43490509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43490509C>T	ENST00000395891.2	+	12	3086	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	HECW1_ENST00000453890.1_Intron	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					ACCCAACAATCGATGAGCCTC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000395891.2	1	1	hg19	CCDS5469.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	0	0	9	303	0	72	0	4.881164e-02	0	11	0	72	2		0	0	0	0	0	2	1	9.935938e-01	9	294	0	70	2								-3.080169	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.360000	0.170000	1.000000	0.340000	0.406274	0.360000	0	2.500000e-01	5.200000e-01
HECW1	23072	broad.mit.edu	37	7	43590119	43590119	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43590119C>T	ENST00000395891.2	+	27	4929	c.4324C>T	c.(4324-4326)Cgc>Tgc	p.R1442C	HECW1_ENST00000453890.1_Missense_Mutation_p.R1408C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					GTACATCGAGCGCATGGTGAA	0.587000																								0							SO:0001583	missense			ENST00000395891.2	1	1	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086304	0.76642	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.59224	0.28;0.28	5.62	1.73	0.24493	HECT (4);	0.048274	0.85682	D	0.000000	T	0.71178	0.3309	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.969	T	0.74025	-0.3797	10	0.87932	D	0	.	13.675	0.62449	0.5785:0.4215:0.0:0.0	.	1408;1442	B4DH42;Q76N89	.;HECW1_HUMAN	C	1442;1408;1442	ENSP00000379228:R1442C;ENSP00000407774:R1408C	ENSP00000265522:R1442C	R	+	1	0	HECW1	43556644	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.693000	0.37742	0.383000	0.24910	-0.274000	0.10170	CGC		TCGA-IB-7651-01A-11D-2154-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	1	17	109	0	38	0	1.507139e-01	0	5	0	38	2		0	0	0	0	0	2	1	9.999371e-01	15	97	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.997235	0.990000	1	9.900000e-01	1
BLVRA	644	broad.mit.edu	37	7	43843295	43843295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43843295C>T	ENST00000402924.1	+	8	644	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A			12					GGAAGAAGAGCGGTTTGGCTT	0.577000																								0							SO:0001583	missense			ENST00000402924.1	1	1	hg19	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405472	0.62288	0.0	1.16E-4	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.25749	1.78;1.78	4.32	3.43	0.39272	Biliverdin reductase, catalytic (2);	1.288820	0.05404	N	0.541181	T	0.38295	0.1035	L	0.34521	1.04	0.27900	N	0.93901	D	0.76494	0.999	D	0.64321	0.924	T	0.26052	-1.0114	10	0.32370	T	0.25	.	9.8946	0.41311	0.204:0.796:0.0:0.0	.	161	P53004	BIEA_HUMAN	W	161	ENSP00000265523:R161W;ENSP00000385757:R161W	ENSP00000265523:R161W	R	+	1	2	BLVRA	43809820	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	1.469000	0.35343	0.923000	0.37045	-0.310000	0.09108	CGG		TCGA-IB-7651-01A-11D-2154-08	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	1	0	1	234	1139	0	245	1	1	58	253	0	245	2		0	0	0	0	0	2	1	1	228	1095	0	244	2								-20.000000	1	1	121412	4	42	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BLVRA	644	broad.mit.edu	37	7	43846790	43846790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43846790G>A	ENST00000402924.1	+	9	1010	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A			12					GCACTGCCTGGGGCTTGCAGA	0.443000																								0							SO:0001583	missense			ENST00000402924.1	1	1	hg19	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058859	0.19987	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.21191	2.02;2.02	4.38	2.41	0.29592	.	0.489174	0.24757	N	0.035848	T	0.13628	0.0330	N	0.22421	0.69	0.24712	N	0.993192	B	0.19706	0.038	B	0.25140	0.058	T	0.28267	-1.0049	10	0.21540	T	0.41	.	10.8631	0.46837	0.0:0.0:0.6118:0.3882	.	283	P53004	BIEA_HUMAN	R	283	ENSP00000265523:G283R;ENSP00000385757:G283R	ENSP00000265523:G283R	G	+	1	0	BLVRA	43813315	1.000000	0.71417	0.920000	0.36463	0.896000	0.52359	1.267000	0.33050	0.299000	0.22661	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	1	0	1	71	270	0	81	1	1	37	191	0	81	2		0	0	0	0	0	2	1	1	69	262	0	80	2								-3.443443	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLM	27434	broad.mit.edu	37	7	44118348	44118348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44118348C>A	ENST00000242248.5	-	5	806	c.705G>T	c.(703-705)caG>caT	p.Q235H	POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.Q235H|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu			22					CCTTCATGGTCTGGTACCTCT	0.607000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000242248.5	1	1	hg19	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861878	0.51482	.	.	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.47177	2.38;0.85	5.91	4.12	0.48240	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (1);	.	.	.	.	T	0.56906	0.2017	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.63880	0.958;0.963;0.993;0.987	P;P;P;P	0.56823	0.748;0.662;0.807;0.739	T	0.58092	-0.7697	9	0.66056	D	0.02	.	9.1492	0.36953	0.0:0.8334:0.0:0.1666	.	202;235;235;235	B4DG75;Q6PIY2;Q6P5X8;Q9NP87	.;.;.;DPOLM_HUMAN	H	235	ENSP00000335141:Q235H;ENSP00000242248:Q235H	ENSP00000242248:Q235H	Q	-	3	2	POLM	44084873	0.995000	0.38212	0.987000	0.45799	0.947000	0.59692	0.638000	0.24674	0.851000	0.35264	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	1	0	1	59	307	0	77	1	9.713208e-01	11	21	0	77	2		0	0	0	0	0	2	1	1	58	297	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AEBP1	165	broad.mit.edu	37	7	44144435	44144435	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44144435G>A	ENST00000223357.3	+	1	476	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1			33					TGGAGGCCCCGCCGCCTCCCG	0.711000																								0							SO:0001819	synonymous_variant			ENST00000223357.3	0	1	hg19	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414423	0.11870	.	.	ENSG00000106624	ENST00000455443	.	.	.	3.52	1.46	0.22682	.	.	.	.	.	T	0.30947	0.0781	.	.	.	0.20074	N	0.999932	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	-9.9063	5.7451	0.18116	0.2815:0.0:0.7185:0.0	.	.	.	.	T	15	.	.	A	+	1	0	AEBP1	44110960	0.060000	0.20803	0.708000	0.30435	0.435000	0.31806	1.053000	0.30442	-0.018000	0.14079	0.511000	0.50034	GCC		TCGA-IB-7651-01A-11D-2154-08	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	0	0	9	57	0	16	0	9.997996e-01	0	117	0	16	2		0	0	0	0	0	2	1	9.949712e-01	9	56	0	15	2								-16.868050	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.987712	0.990000	1	9.900000e-01	1
AEBP1	165	broad.mit.edu	37	7	44148560	44148560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148560G>T	ENST00000223357.3	+	7	1308	c.1003G>T	c.(1003-1005)Gag>Tag	p.E335*	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1			33					GACAGACGAAGAGAAGGAGGA	0.627000																								0							SO:0001587	stop_gained			ENST00000223357.3	0	1	hg19	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265895|5.265895	0.95399|0.95399	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000223357|ENST00000455443	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	0.695066|.	0.13617|.	N|.	0.374699|.	.|T	.|0.69043	.|0.3067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68387	.|-0.5422	.|4	0.87932|.	D|.	0|.	-26.7298|-26.7298	14.2378|14.2378	0.65938|0.65938	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	335|227	.|.	ENSP00000223357:E335X|.	E|R	+|+	1|2	0|0	AEBP1|AEBP1	44115085|44115085	0.995000|0.995000	0.38212|0.38212	0.982000|0.982000	0.44146|0.44146	0.924000|0.924000	0.55760|0.55760	3.008000|3.008000	0.49544|0.49544	2.167000|2.167000	0.68274|0.68274	0.491000|0.491000	0.48974|0.48974	GAG|AGA		TCGA-IB-7651-01A-11D-2154-08	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	0	0	6	68	0	17	0	1	1	1629	0	17	2		0	0	0	0	0	2	1	9.656525e-01	6	67	0	16	2								-11.318220	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.420000	1.000000	1.000000	0.875133	0.990000	1	6.700000e-01	1
AEBP1	165	broad.mit.edu	37	7	44153429	44153429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153429C>T	ENST00000223357.3	+	21	3351	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1			33					CCCCCAACAGCGACGCCTGCA	0.662000																								0							SO:0001587	stop_gained			ENST00000223357.3	0	1	hg19	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	43	9.986870	0.99312	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	.	.	.	5.33	2.51	0.30379	.	0.321128	0.27730	N	0.018100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.3185	14.3421	0.66633	0.3866:0.6133:0.0:0.0	.	.	.	.	X	1016;591	.	ENSP00000223357:R1016X	R	+	1	2	AEBP1	44119954	0.002000	0.14202	0.748000	0.31131	0.801000	0.45260	1.374000	0.34283	0.230000	0.21059	-0.270000	0.10280	CGA		TCGA-IB-7651-01A-11D-2154-08	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	1	0	1	120	545	0	113	0	1	1	1482	0	113	2		0	0	0	0	0	2	1	1	120	534	0	110	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AEBP1	165	broad.mit.edu	37	7	44153432	44153432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153432C>T	ENST00000223357.3	+	21	3354	c.3049C>T	c.(3049-3051)Cgc>Tgc	p.R1017C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1			33					CCAACAGCGACGCCTGCAGCA	0.662000																								0							SO:0001583	missense			ENST00000223357.3	1	1	hg19	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499192	0.64298	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95307	-3.67;-3.09	5.33	3.25	0.37280	.	0.782162	0.12025	N	0.506551	D	0.89164	0.6637	N	0.19112	0.55	0.21984	N	0.999438	D;D	0.58268	0.982;0.97	P;B	0.44732	0.459;0.27	T	0.81852	-0.0742	10	0.62326	D	0.03	-12.0385	7.3391	0.26627	0.2928:0.6046:0.0:0.1025	.	592;1017	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	1017;592	ENSP00000223357:R1017C;ENSP00000398878:R592C	ENSP00000223357:R1017C	R	+	1	0	AEBP1	44119957	0.000000	0.05858	0.510000	0.27712	0.846000	0.48090	0.986000	0.29590	1.241000	0.43820	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	1	0	1	121	515	0	102	0	1	1	1415	0	102	2		0	0	0	0	0	2	1	1	116	509	0	99	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AEBP1	165	broad.mit.edu	37	7	44153526	44153526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153526C>T	ENST00000223357.3	+	21	3448	c.3143C>T	c.(3142-3144)aCt>aTt	p.T1048I	AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1			33					GGCCCCCACACTGTGCCTCCC	0.701000																								0							SO:0001583	missense			ENST00000223357.3	1	1	hg19	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393069	0.25118	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95690	-3.78;-3.13	4.0	0.568	0.17333	.	1.510280	0.03661	N	0.242499	D	0.92047	0.7480	N	0.24115	0.695	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.34931	0.192;0.094	D	0.84349	0.0531	10	0.87932	D	0	4.82	8.4594	0.32919	0.2768:0.581:0.1422:0.0	.	623;1048	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	I	1048;623	ENSP00000223357:T1048I;ENSP00000398878:T623I	ENSP00000223357:T1048I	T	+	2	0	AEBP1	44120051	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.877000	0.28106	0.113000	0.18004	0.557000	0.71058	ACT		TCGA-IB-7651-01A-11D-2154-08	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	1	0	1	31	245	0	33	0	1	1	1419	0	33	2		0	0	0	0	0	2	1	1	31	240	0	32	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.930000	1.000000	1.000000	0.996174	0.990000	1	9.900000e-01	1
POLD2	5425	broad.mit.edu	37	7	44154541	44154541	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44154541G>T	ENST00000406581.2	-	12	1902	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	POLD2_ENST00000223361.3_Missense_Mutation_p.P404H|POLD2_ENST00000452185.1_Missense_Mutation_p.P418H	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit			12					CTGGTCCTCAGGACCTGCAAA	0.562000																								0							SO:0001583	missense			ENST00000406581.2	0	1	hg19	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296893	0.60086	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.45276	0.91;0.9;0.91	5.8	4.93	0.64822	.	0.114840	0.64402	D	0.000011	T	0.51517	0.1679	M	0.66939	2.045	0.47819	D	0.999527	D;D	0.56287	0.958;0.975	P;P	0.55615	0.63;0.78	T	0.52786	-0.8529	10	0.46703	T	0.11	-12.3013	7.5049	0.27538	0.0784:0.0:0.6619:0.2596	.	418;404	P49005;F8W8R3	DPOD2_HUMAN;.	H	418;404;418	ENSP00000386105:P418H;ENSP00000223361:P404H;ENSP00000395231:P418H	ENSP00000223361:P404H	P	-	2	0	POLD2	44121066	0.813000	0.29090	0.988000	0.46212	0.950000	0.60333	2.801000	0.47908	1.478000	0.48253	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	1	0	1	10	82	0	24	1	9.999979e-01	51	215	0	24	2		0	0	0	0	0	2	1	9.972634e-01	10	81	0	24	2								-16.623520	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.680000	1.000000	1.000000	0.969001	0.990000	1	9.500000e-01	1
GCK	2645	broad.mit.edu	37	7	44187283	44187283	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44187283C>T	ENST00000403799.3	-	7	1298	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GCK_ENST00000395796.3_Missense_Mutation_p.V276M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M|GCK_ENST00000437084.1_Missense_Mutation_p.V260M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)			37					CTCTCGTCCACCAGGCGGTCA	0.682000																								0							SO:0001583	missense			ENST00000403799.3	1	1	hg19	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967824	0.92855	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.5	5.5	0.81552	Hexokinase, C-terminal (1);	0.121200	0.56097	D	0.000035	D	0.97173	0.9076	L	0.58925	1.835	0.54753	D	0.999986	D;P;P	0.53885	0.963;0.803;0.954	P;P;P	0.58266	0.836;0.532;0.747	D	0.97189	0.9856	10	0.52906	T	0.07	-39.9831	18.9928	0.92800	0.0:1.0:0.0:0.0	.	277;278;276	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	M	277;276;278;260	ENSP00000384247:V277M;ENSP00000379142:V276M;ENSP00000223366:V278M;ENSP00000402840:V260M	ENSP00000223366:V278M	V	-	1	0	GCK	44153808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.954000	0.56708	2.585000	0.87301	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2	1	0	0	23	523	0	92	0	1.994336e-03	0	2	0	92	2	0	0	0	1	0	0	2	1	9.999993e-01	23	515	0	91	2								-4.501243	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.510000	0.320000	1.000000	0.500000	0.540940	0.510000	0	4.100000e-01	6.400000e-01
NUDCD3	23386	broad.mit.edu	37	7	44425626	44425626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44425626C>T	ENST00000355451.7	-	6	1349	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3			7					CTGCACAGCCCCCGGGGAGAT	0.572000																								0							SO:0001583	missense			ENST00000355451.7	1	1	hg19	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917406	0.92249	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.58358	0.34	5.88	5.88	0.94601	.	0.103771	0.64402	D	0.000004	T	0.68632	0.3022	L	0.59436	1.845	0.58432	D	0.999994	D	0.69078	0.997	P	0.60789	0.879	T	0.69176	-0.5214	10	0.72032	D	0.01	-20.757	19.8237	0.96607	0.0:1.0:0.0:0.0	.	357	Q8IVD9	NUDC3_HUMAN	E	357;113	ENSP00000347626:G357E	ENSP00000345922:G113E	G	-	2	0	NUDCD3	44392151	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.769000	0.68865	2.786000	0.95864	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	1	0	1	26	295	0	70	1	9.999962e-01	32	198	0	70	2		0	0	0	0	0	2	1	9.999999e-01	25	285	0	69	2								-3.221884	1	1	121412	1	25	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.970000	0.650000	1.000000	1.000000	0.919623	0.970000	1	7.900000e-01	1
NUDCD3	23386	broad.mit.edu	37	7	44467174	44467174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44467174T>G	ENST00000355451.7	-	3	917	c.638A>C	c.(637-639)aAg>aCg	p.K213T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3			7					CATTACCTGCTTTCCCTTCAC	0.567000																								0							SO:0001583	missense			ENST00000355451.7	1	1	hg19	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059671	0.76074	.	.	ENSG00000015676	ENST00000355451	T	0.53206	0.63	5.78	3.49	0.39957	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.277214	0.38436	N	0.001683	T	0.68467	0.3004	M	0.80422	2.495	0.34906	D	0.746983	B	0.28055	0.199	P	0.57548	0.823	T	0.74000	-0.3805	10	0.72032	D	0.01	-20.7429	6.7428	0.23445	0.0:0.256:0.0:0.744	.	213	Q8IVD9	NUDC3_HUMAN	T	213	ENSP00000347626:K213T	ENSP00000347626:K213T	K	-	2	0	NUDCD3	44433699	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.970000	0.29383	0.505000	0.28104	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	1	0	1	89	419	0	127	1	1	40	106	0	127	2		0	0	0	0	0	2	1	1	88	412	0	126	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPC1L1	29881	broad.mit.edu	37	7	44561319	44561319	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561319G>A	ENST00000289547.4	-	12	3000	c.2945C>T	c.(2944-2946)tCg>tTg	p.S982L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	p.S982L(1)		57				Ezetimibe(DB00973)	ACTGACGGTCGAGGGGCAGAA	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000289547.4	1	1	hg19	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439750	0.63067	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93604	-3.13;-3.14;-3.25	5.49	5.49	0.81192	.	0.072905	0.56097	D	0.000026	D	0.93080	0.7797	M	0.67517	2.055	0.48901	D	0.999727	P;P;D	0.64830	0.873;0.95;0.994	B;B;P	0.48840	0.225;0.372;0.592	D	0.91030	0.4863	10	0.11182	T	0.66	-10.3843	16.8538	0.86000	0.0:0.0:1.0:0.0	.	936;982;982	B7ZLE6;Q17RV5;D3DVK9	.;.;.	L	982;982;936	ENSP00000289547:S982L;ENSP00000370552:S982L;ENSP00000438033:S936L	ENSP00000289547:S982L	S	-	2	0	NPC1L1	44527844	1.000000	0.71417	0.949000	0.38748	0.062000	0.15995	8.339000	0.90041	2.586000	0.87340	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1	64	292	0	85	1	9.999115e-01	25	40	0	85	2		0	0	0	0	0	2	1	1	63	288	0	85	2								-3.162566	1	1	121412	2	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPC1L1	29881	broad.mit.edu	37	7	44561836	44561836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561836C>T	ENST00000289547.4	-	11	2698	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	NPC1L1_ENST00000381160.3_Silent_p.S881S|NPC1L1_ENST00000546276.1_Intron	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1			57				Ezetimibe(DB00973)	CAAGCAGGTACGAGTCCTAGG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000289547.4	1	1	hg19	CCDS5491.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1	25	99	0	27	1	9.892895e-01	11	21	0	27	2		0	0	0	0	0	2	1	9.999999e-01	25	98	0	27	2								-20.000000	1	1	121406	3	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
NPC1L1	29881	broad.mit.edu	37	7	44578520	44578520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44578520C>A	ENST00000289547.4	-	2	1531	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H|NPC1L1_ENST00000423141.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1			57				Ezetimibe(DB00973)	TCTGGAAATACTGCAGGAGGC	0.562000																								0							SO:0001583	missense			ENST00000289547.4	1	1	hg19	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	16.63	3.177743	0.57692	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.07	3.26	0.37387	.	0.133289	0.51477	D	0.000084	D	0.92264	0.7546	M	0.84585	2.705	0.41428	D	0.987841	B;D;B;B	0.69078	0.035;0.997;0.008;0.009	B;P;B;B	0.58873	0.047;0.847;0.031;0.007	D	0.90153	0.4222	10	0.46703	T	0.11	-12.2679	7.0715	0.25181	0.0:0.7223:0.0:0.2777	.	492;492;492;492	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	H	492	ENSP00000289547:Q492H;ENSP00000370552:Q492H;ENSP00000438033:Q492H;ENSP00000404670:Q492H	ENSP00000289547:Q492H	Q	-	3	2	NPC1L1	44545045	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	2.869000	0.48444	0.537000	0.28751	0.407000	0.27541	CAG		TCGA-IB-7651-01A-11D-2154-08	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1	79	299	0	74	1	9.394949e-01	9	11	0	74	2		0	0	0	0	0	2	1	1	74	295	0	74	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPC1L1	29881	broad.mit.edu	37	7	44579675	44579675	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579675C>A	ENST00000289547.4	-	2	376	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N|NPC1L1_ENST00000423141.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1			57				Ezetimibe(DB00973)	TGAGGAGGGCCTTGGTGATCG	0.592000																								0							SO:0001583	missense			ENST00000289547.4	1	1	hg19	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	9.686	1.150677	0.21371	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.9	4.01	0.46588	.	0.055764	0.64402	D	0.000002	D	0.91236	0.7238	L	0.48218	1.51	0.42876	D	0.994154	D;D;P;D	0.89917	0.959;1.0;0.867;0.999	P;D;B;P	0.87578	0.463;0.998;0.348;0.904	D	0.87513	0.2441	10	0.17832	T	0.49	-33.0028	7.9746	0.30147	0.0:0.8104:0.0:0.1896	.	107;107;107;107	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	N	107	ENSP00000289547:K107N;ENSP00000370552:K107N;ENSP00000438033:K107N;ENSP00000404670:K107N	ENSP00000289547:K107N	K	-	3	2	NPC1L1	44546200	0.961000	0.32948	1.000000	0.80357	0.655000	0.38815	0.323000	0.19593	2.262000	0.75019	0.555000	0.69702	AAG		TCGA-IB-7651-01A-11D-2154-08	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1	36	254	0	39	1	7.966643e-01	9	14	0	39	2		0	0	0	0	0	2	1	1	35	246	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999397	0.990000	1	9.900000e-01	1
NPC1L1	29881	broad.mit.edu	37	7	44579904	44579904	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579904C>T	ENST00000289547.4	-	2	147	c.92G>A	c.(91-93)gGc>gAc	p.G31D	NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1			57				Ezetimibe(DB00973)	GGCGCAGTAGCCAGGCTGGTG	0.612000																								0							SO:0001583	missense			ENST00000289547.4	1	1	hg19	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	17.29	3.353004	0.61293	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.17	4.29	0.51040	.	0.064498	0.64402	N	0.000011	D	0.97801	0.9278	M	0.83012	2.62	0.49389	D	0.999782	P;D;D;D	0.89917	0.941;1.0;0.995;1.0	B;D;P;D	0.97110	0.369;1.0;0.739;0.999	D	0.97747	1.0212	10	0.56958	D	0.05	-27.0967	11.3615	0.49646	0.0:0.9104:0.0:0.0896	.	31;31;31;31	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	D	31	ENSP00000289547:G31D;ENSP00000370552:G31D;ENSP00000438033:G31D;ENSP00000404670:G31D	ENSP00000289547:G31D	G	-	2	0	NPC1L1	44546429	0.991000	0.36638	0.924000	0.36721	0.716000	0.41182	3.187000	0.50950	1.172000	0.42781	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	1	0	1	56	219	0	53	1	9.188296e-01	12	7	0	53	2		0	0	0	0	0	2	1	1	55	213	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX56	54606	broad.mit.edu	37	7	44611245	44611245	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44611245G>T	ENST00000258772.5	-	6	842	c.736C>A	c.(736-738)Ctc>Atc	p.L246I	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.L246I	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56			16					TACAGCAGGAGGAATTTGTCT	0.527000																								0							SO:0001583	missense			ENST00000258772.5	1	1	hg19	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	19.73	3.881624	0.72294	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.04234	3.67;3.75	5.82	2.03	0.26663	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	M	0.68593	2.085	0.45899	D	0.998748	P;D	0.69078	0.822;0.997	P;P	0.61201	0.495;0.885	T	0.12426	-1.0548	10	0.20519	T	0.43	-17.2289	8.7838	0.34807	0.313:0.0:0.687:0.0	.	246;246	C9JV95;Q9NY93	.;DDX56_HUMAN	I	246	ENSP00000258772:L246I;ENSP00000393488:L246I	ENSP00000258772:L246I	L	-	1	0	DDX56	44577770	1.000000	0.71417	0.061000	0.19648	0.825000	0.46686	4.194000	0.58393	0.096000	0.17463	-0.251000	0.11542	CTC		TCGA-IB-7651-01A-11D-2154-08	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	1	0	1	55	277	0	70	1	1	78	155	0	70	2		0	0	0	0	0	2	1	1	54	272	0	70	2								-2.994266	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX56	54606	broad.mit.edu	37	7	44612246	44612246	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44612246C>T	ENST00000258772.5	-	4	587	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.E161K	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56			16					ACCAAAAGCTCCAGGGAGTCA	0.507000																								0							SO:0001583	missense			ENST00000258772.5	1	1	hg19	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	17.97	3.518387	0.64634	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.39056	1.1;1.1	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.053895	0.64402	D	0.000001	T	0.24661	0.0598	N	0.05383	-0.06	0.54753	D	0.999987	B;B	0.33583	0.277;0.418	B;B	0.35278	0.159;0.199	T	0.10730	-1.0617	10	0.25106	T	0.35	-39.2328	12.9102	0.58175	0.0:0.8368:0.1632:0.0	.	161;161	C9JV95;Q9NY93	.;DDX56_HUMAN	K	161	ENSP00000258772:E161K;ENSP00000393488:E161K	ENSP00000258772:E161K	E	-	1	0	DDX56	44578771	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.681000	0.61663	2.746000	0.94184	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	1	0	1	117	558	0	153	1	1	52	149	0	153	2		0	0	0	0	0	2	1	1	116	546	0	153	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMED4	222068	broad.mit.edu	37	7	44621144	44621144	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44621144C>T	ENST00000457408.2	-	3	343	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TMED4_ENST00000481238.1_Silent_p.E97E|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000289577.5_Silent_p.E97E	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4			6					TGAAGCGGCCCTCCGAGCCGT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000457408.2	1	1	hg19	CCDS5493.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	1	0	0	85	394	0	81	1	1	86	293	0	81	2		0	0	0	0	0	2	1	1	83	379	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OGDH	4967	broad.mit.edu	37	7	44685096	44685096	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44685096G>A	ENST00000222673.5	+	3	435	c.393G>A	c.(391-393)caG>caA	p.Q131Q	OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000444676.1_Silent_p.Q131Q|OGDH_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.Q71Q|OGDH_ENST00000447398.1_Silent_p.Q131Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)			36				Valproic Acid(DB00313)	TGGCAGTGCAGTCGCTCATCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000222673.5	1	1	hg19	CCDS34627.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	1	0	1	66	270	0	49	1	1	44	157	0	49	2		0	0	0	0	0	2	1	1	66	265	0	49	2								-20.000000	1	1	121412	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OGDH	4967	broad.mit.edu	37	7	44687259	44687259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44687259C>T	ENST00000222673.5	+	4	460	c.418C>T	c.(418-420)Cga>Tga	p.R140*	OGDH_ENST00000449767.1_Intron|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*|OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)			36				Valproic Acid(DB00313)	CTCATAGATACGAGGGCACCA	0.458000																								0							SO:0001587	stop_gained			ENST00000222673.5	0	1	hg19	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	37	6.456488	0.97581	.	.	ENSG00000105953	ENST00000443864;ENST00000419661;ENST00000444676;ENST00000222673	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3707	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000222673:R140X	R	+	1	2	OGDH	44653784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	1	0	1	30	240	0	61	1	9.999952e-01	3	154	0	61	2		0	0	0	0	0	2	1	1	30	236	0	60	2								-12.857310	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.910000	1.000000	1.000000	0.995315	0.990000	1	9.900000e-01	1
OGDH	4967	broad.mit.edu	37	7	44747483	44747483	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747483C>A	ENST00000222673.5	+	23	2999	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D	OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000447398.1_Missense_Mutation_p.A997D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)			36				Valproic Acid(DB00313)	CTCAGGTATGCCGGCCGGGAC	0.662000																								0							SO:0001583	missense			ENST00000222673.5	1	1	hg19	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924983	0.52759	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.0	4.11	0.48088	.	0.106700	0.64402	D	0.000006	T	0.30947	0.0781	M	0.93507	3.425	0.51482	D	0.999925	B;B;B;B;B	0.29955	0.167;0.263;0.071;0.071;0.071	B;B;B;B;B	0.35182	0.13;0.197;0.128;0.128;0.128	T	0.31223	-0.9951	10	0.87932	D	0	-13.4744	13.1166	0.59303	0.0:0.9208:0.0:0.0792	.	781;836;982;997;986	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	D	836;982;997;1001;986;937	ENSP00000398576:A836D;ENSP00000392878:A982D;ENSP00000388183:A997D;ENSP00000414662:A1001D;ENSP00000222673:A986D;ENSP00000443821:A937D	ENSP00000222673:A986D	A	+	2	0	OGDH	44714008	0.975000	0.34042	0.441000	0.26858	0.913000	0.54294	2.416000	0.44644	1.233000	0.43693	0.313000	0.20887	GCC		TCGA-IB-7651-01A-11D-2154-08	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	1	0	1	35	381	0	89	1	1	49	260	0	89	2		0	0	0	0	0	2	1	1	35	375	0	88	2								-2.920853	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.710000	1.000000	1.000000	0.943453	0.990000	1	8.400000e-01	1
OGDH	4967	broad.mit.edu	37	7	44747498	44747498	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747498C>T	ENST00000222673.5	+	23	3014	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)			36				Valproic Acid(DB00313)	CGGGACCCAGCGGCTGCTCCA	0.652000																								0							SO:0001583	missense			ENST00000222673.5	1	1	hg19	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455110	0.96223	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.0	5.0	0.66597	.	0.055387	0.64402	D	0.000001	T	0.38665	0.1049	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.69078	0.99;0.99;0.997;0.997;0.997	P;P;P;P;P	0.55055	0.567;0.567;0.767;0.767;0.767	T	0.57100	-0.7869	10	0.87932	D	0	-18.9093	18.2463	0.89986	0.0:1.0:0.0:0.0	.	786;841;987;1002;991	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	V	841;987;1002;1006;991;942	ENSP00000398576:A841V;ENSP00000392878:A987V;ENSP00000388183:A1002V;ENSP00000414662:A1006V;ENSP00000222673:A991V;ENSP00000443821:A942V	ENSP00000222673:A991V	A	+	2	0	OGDH	44714023	1.000000	0.71417	0.234000	0.24042	0.894000	0.52154	7.439000	0.80444	2.474000	0.83562	0.313000	0.20887	GCG		TCGA-IB-7651-01A-11D-2154-08	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	1	0	1	76	330	0	89	1	1	86	242	0	89	2		0	0	0	0	0	2	1	1	75	324	0	86	2								-3.105970	1	0	121402	1	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMIZ2	83637	broad.mit.edu	37	7	44805040	44805040	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44805040C>T	ENST00000309315.4	+	16	2227	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2			35					AGCACTGAAGCGCTGCCGCAC	0.677000													NSCLC(20;604 852 1948 16908 50522)											0							SO:0001583	missense			ENST00000309315.4	1	1	hg19	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781630	0.90282	0.0	1.18E-4	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.38240	1.16;1.16;1.16;1.15;1.18	5.14	4.24	0.50183	.	0.000000	0.64402	D	0.000011	T	0.62648	0.2445	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.992	T	0.67007	-0.5779	10	0.56958	D	0.05	-16.8959	13.915	0.63893	0.0:0.9241:0.0:0.0759	.	676;702;644	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	C	644;702;702;670;676;705	ENSP00000409648:R644C;ENSP00000311778:R702C;ENSP00000414723:R702C;ENSP00000396601:R670C;ENSP00000265346:R676C	ENSP00000265346:R676C	R	+	1	0	ZMIZ2	44771565	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.577000	0.53885	2.686000	0.91538	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	1	0	1	40	153	0	25	1	9.999958e-01	19	57	0	25	2		0	0	0	0	0	2	1	1	39	150	0	25	2								-20.000000	1	1	121050	2	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMIZ2	83637	broad.mit.edu	37	7	44807123	44807123	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44807123G>A	ENST00000309315.4	+	19	2787	c.2664G>A	c.(2662-2664)ccG>ccA	p.P888P	ZMIZ2_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Silent_p.P856P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2			35					AGCTGCTCCCGGAACTGACCA	0.542000													NSCLC(20;604 852 1948 16908 50522)											0							SO:0001819	synonymous_variant			ENST00000309315.4	1	1	hg19	CCDS43576.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	1	0	1	37	223	0	63	1	1	44	128	0	63	2		0	0	0	0	0	2	1	1	35	214	0	63	2								-2.669669	1	1	121010	4	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999950	0.990000	1	9.900000e-01	1
MYO1G	64005	broad.mit.edu	37	7	45009400	45009400	+	Silent	SNP	G	G	A	rs141395808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45009400G>A	ENST00000258787.7	-	11	1543	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG			28					TGCAGGCCTCGTCCAGCACGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000258787.7	1	1	hg19	CCDS34629.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	1	0	1	163	759	0	148	0	9.991618e-01	0	49	0	148	2		0	0	0	0	0	2	1	1	162	744	0	147	2								-20.000000	1	1	121412	12	45	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYO1G	64005	broad.mit.edu	37	7	45010479	45010479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010479G>A	ENST00000258787.7	-	8	1162	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG			28					CTGCAGTGTGGCCCTTCTCTA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000258787.7	1	1	hg19	CCDS34629.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	1	0	1	41	232	0	44	0	9.969345e-01	0	53	0	44	2		0	0	0	0	0	2	1	1	41	226	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
MYO1G	64005	broad.mit.edu	37	7	45010534	45010534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010534C>T	ENST00000258787.7	-	8	1107	c.971G>A	c.(970-972)cGc>cAc	p.R324H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG			28					CAGCAGGGAGCGGAGCACGAG	0.672000																								0							SO:0001583	missense			ENST00000258787.7	1	1	hg19	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282578	0.59867	.	.	ENSG00000136286	ENST00000258787	D	0.87412	-2.25	5.3	4.43	0.53597	Myosin head, motor domain (2);	0.000000	0.40385	N	0.001103	D	0.86443	0.5934	L	0.28014	0.82	0.37491	D	0.916393	D;D	0.69078	0.997;0.985	D;P	0.63192	0.912;0.806	D	0.87855	0.2660	10	0.66056	D	0.02	.	8.4286	0.32744	0.0:0.8224:0.0:0.1776	.	324;324	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	H	324	ENSP00000258787:R324H	ENSP00000258787:R324H	R	-	2	0	MYO1G	44977059	0.997000	0.39634	0.986000	0.45419	0.288000	0.27193	0.993000	0.29680	1.384000	0.46424	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	1	0	1	31	160	0	34	0	9.971053e-01	0	50	0	34	2		0	0	0	0	0	2	1	1	31	155	0	33	2								-20.000000	1	0	121372	72	47	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
CCM2	83605	broad.mit.edu	37	7	45104190	45104190	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45104190C>T	ENST00000258781.6	+	4	566	c.417C>T	c.(415-417)atC>atT	p.I139I	CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000544363.1_Silent_p.I139I|CCM2_ENST00000474617.1_Silent_p.I133I|CCM2_ENST00000475551.1_Silent_p.I133I|CCM2_ENST00000381112.3_Silent_p.I160I|CCM2_ENST00000461377.1_3'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2			19					TCCATGACATCGCCGCCGTCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000258781.6	1	1	hg19	CCDS5500.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	1	0	1	28	127	0	49	1	1	27	137	0	49	2		0	0	0	0	0	2	1	1	28	127	0	49	2								-20.000000	1	1	121412	2	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
CCM2	83605	broad.mit.edu	37	7	45109511	45109511	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45109511G>A	ENST00000258781.6	+	6	845	c.696G>A	c.(694-696)gcG>gcA	p.A232A	CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000475551.1_Silent_p.A226A|CCM2_ENST00000381112.3_Silent_p.A253A|CCM2_ENST00000461377.1_3'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2			19					TGGACAGAGCGATATTTGATG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000258781.6	1	1	hg19	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611161	0.28712	0.0	1.16E-4	ENSG00000136280	ENST00000480382	.	.	.	5.32	-6.13	0.02118	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43718	-0.9374	4	.	.	.	-30.244	3.9718	0.09457	0.5419:0.2266:0.1462:0.0853	.	.	.	.	Q	58	.	.	R	+	2	0	CCM2	45076036	0.012000	0.17670	0.898000	0.35279	0.996000	0.88848	-0.853000	0.04303	-0.789000	0.04498	-0.136000	0.14681	CGA		TCGA-IB-7651-01A-11D-2154-08	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	1	0	1	65	381	0	97	1	1	40	152	0	97	2		0	0	0	0	0	2	1	1	65	375	0	97	2								-20.000000	1	1	121412	1	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCM2	83605	broad.mit.edu	37	7	45113169	45113169	+	Splice_Site	SNP	C	C	T	rs11552375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45113169C>T	ENST00000258781.6	+	8	1063	c.914C>T	c.(913-915)aCg>aTg	p.T305M	CCM2_ENST00000541586.1_Splice_Site_p.T247M|CCM2_ENST00000544363.1_Splice_Site_p.T214M|CCM2_ENST00000474617.1_Splice_Site_p.T208M|CCM2_ENST00000475551.1_Splice_Site_p.T299M|CCM2_ENST00000381112.3_Splice_Site_p.T326M|CCM2_ENST00000461377.1_3'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2			19					TACATGCTGACGGTAGGCCTC	0.657000																								0							SO:0001630	splice_region_variant			ENST00000258781.6	1	0	hg19	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931964	0.92389	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.57	5.57	0.84162	.	0.049950	0.85682	D	0.000000	T	0.67097	0.2857	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.83275	0.984;0.977;0.882;0.996	T	0.68303	-0.5444	10	0.52906	T	0.07	-11.7598	18.1184	0.89563	0.0:1.0:0.0:0.0	.	326;214;247;305	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	M	305;247;214;299;326;208	ENSP00000258781:T305M;ENSP00000444725:T247M;ENSP00000438035:T214M;ENSP00000417180:T299M;ENSP00000370503:T326M;ENSP00000419474:T208M	ENSP00000258781:T305M	T	+	2	0	CCM2	45079694	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	7.470000	0.80973	2.622000	0.88805	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	1	0	0	35	124	0	28	1	1	21	166	0	28	2		0	0	0	0	0	2	1	1	35	124	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBRG4	9238	broad.mit.edu	37	7	45144233	45144233	+	Missense_Mutation	SNP	G	G	A	rs143689271		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45144233G>A	ENST00000258770.3	-	4	932	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	TBRG4_ENST00000494076.1_Missense_Mutation_p.R271W|SNORA5C_ENST00000364902.1_RNA|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron|SNORA5A_ENST00000384111.1_RNA|SNORA5B_ENST00000363786.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4			17					GGCACGGACCGCCGGCTCTGA	0.612000																								0							SO:0001583	missense			ENST00000258770.3	0	1	hg19	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512987	0.64522	2.27E-4	0.0	ENSG00000136270	ENST00000258770;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T	0.69685	2.75;2.75;0.73;-0.42	5.69	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	M	0.72894	2.215	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80074	-0.1534	10	0.72032	D	0.01	.	12.217	0.54412	0.0:0.0:0.6897:0.3103	.	282;271	B4DU42;Q969Z0	.;TBRG4_HUMAN	W	271;271;236;217	ENSP00000258770:R271W;ENSP00000420597:R271W;ENSP00000418631:R236W;ENSP00000417743:R217W	ENSP00000258770:R271W	R	-	1	2	TBRG4	45110758	1.000000	0.71417	0.978000	0.43139	0.619000	0.37552	3.104000	0.50306	0.698000	0.31739	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	0	0	0	7	298	0	43	0	8.511470e-01	1	148	0	43	2		0	0	0	0	0	2	1	9.795169e-01	7	292	0	43	2								-7.662052	1	1	121412	2	33	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.290000	0.120000	1.000000	0.270000	0.342465	0.290000	0	1.900000e-01	4.400000e-01
TBRG4	9238	broad.mit.edu	37	7	45145255	45145255	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45145255A>G	ENST00000258770.3	-	3	641	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R|SNORA5C_ENST00000364902.1_RNA|TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R|TBRG4_ENST00000471142.1_5'Flank|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R|SNORA5A_ENST00000384111.1_RNA|SNORA5B_ENST00000363786.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4			17					CGCATGCGCCAGCGGACCTCC	0.632000																								0							SO:0001583	missense			ENST00000258770.3	1	1	hg19	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796521	0.70567	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.76328	2.33	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.996;0.999;0.934	T	0.59010	-0.7534	10	0.10636	T	0.68	.	13.4467	0.61144	1.0:0.0:0.0:0.0	.	185;174;174	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	R	174;174;174;174;139;120	ENSP00000258770:W174R;ENSP00000354992:W174R;ENSP00000379016:W174R;ENSP00000420597:W174R;ENSP00000418631:W139R;ENSP00000417743:W120R	ENSP00000258770:W174R	W	-	1	0	TBRG4	45111780	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.126000	0.89592	2.195000	0.70347	0.533000	0.62120	TGG		TCGA-IB-7651-01A-11D-2154-08	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	1	0	1	85	361	0	112	1	1	55	127	0	112	2		0	0	0	0	0	2	1	1	85	355	0	111	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBRG4	9238	broad.mit.edu	37	7	45148815	45148815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45148815G>A	ENST00000258770.3	-	2	143	c.22C>T	c.(22-24)Cga>Tga	p.R8*	TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4			17					CACGTGCATCGCTTTACCAGG	0.557000																								0							SO:0001587	stop_gained			ENST00000258770.3	0	1	hg19	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618423	0.96649	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076;ENST00000478532;ENST00000475893;ENST00000482285;ENST00000495078	.	.	.	4.91	4.01	0.46588	.	0.884037	0.09884	N	0.743253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9389	0.64043	0.0:0.1533:0.8467:0.0	.	.	.	.	X	8	.	ENSP00000258770:R8X	R	-	1	2	TBRG4	45115340	0.033000	0.19621	0.926000	0.36857	0.857000	0.48899	1.641000	0.37197	1.241000	0.43820	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	1	0	0	31	317	0	89	1	9.998139e-01	15	121	0	89	2		0	0	0	0	0	2	1	1	30	308	0	87	2								-20.000000	1	1	121402	2	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.740000	1.000000	1.000000	0.960872	0.990000	1	8.900000e-01	1
ADCY1	107	broad.mit.edu	37	7	45614617	45614617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45614617G>A	ENST00000297323.7	+	1	497	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)			71				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	gccAGCGACCGCCGAACAAGG	0.697000																								0							SO:0001583	missense			ENST00000297323.7	1	1	hg19	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756975	0.31137	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.80566	-1.39	3.7	2.76	0.32466	.	0.141712	0.47093	D	0.000248	T	0.61451	0.2348	L	0.27053	0.805	0.36257	D	0.854304	B	0.30439	0.279	B	0.19148	0.024	T	0.62201	-0.6904	10	0.28530	T	0.3	.	5.6742	0.17739	0.0:0.2311:0.5639:0.2049	.	159	Q08828	ADCY1_HUMAN	T	159	ENSP00000297323:A159T	ENSP00000297323:A159T	A	+	1	0	ADCY1	45581142	0.964000	0.33143	0.393000	0.26258	0.410000	0.31052	1.931000	0.40134	1.879000	0.54435	0.205000	0.17691	GCC		TCGA-IB-7651-01A-11D-2154-08	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	1	0	0	35	132	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	1	35	131	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY1	107	broad.mit.edu	37	7	45701749	45701749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45701749G>A	ENST00000297323.7	+	8	1563	c.1541G>A	c.(1540-1542)tGc>tAc	p.C514Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.C289Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)			71				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCATGCACTGCCGGAAAATG	0.522000																								0							SO:0001583	missense			ENST00000297323.7	1	1	hg19	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162870	0.57368	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.81659	-1.52;-1.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	L	0.54323	1.7	0.80722	D	1	P;D	0.63046	0.863;0.992	B;D	0.74023	0.424;0.982	T	0.80070	-0.1536	10	0.02654	T	1	.	15.7517	0.77992	0.0:0.0:1.0:0.0	.	514;289	Q08828;C9J1J0	ADCY1_HUMAN;.	Y	289;514;514	ENSP00000392721:C289Y;ENSP00000297323:C514Y	ENSP00000297323:C514Y	C	+	2	0	ADCY1	45668274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.198000	0.94994	2.331000	0.79229	0.591000	0.81541	TGC		TCGA-IB-7651-01A-11D-2154-08	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	1	0	1	19	142	0	31	0	1.194047e-01	0	5	0	31	2		0	0	0	0	0	2	1	9.999924e-01	19	139	0	31	2								-10.105240	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.880000	1.000000	1.000000	0.993301	0.990000	1	9.900000e-01	1
ADCY1	107	broad.mit.edu	37	7	45753338	45753338	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45753338T>G	ENST00000297323.7	+	20	3126	c.3104T>G	c.(3103-3105)tTt>tGt	p.F1035C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)			71				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCTACCACTTTGTGTGCCGA	0.537000																								0							SO:0001583	missense			ENST00000297323.7	1	1	hg19	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709070	0.68615	.	.	ENSG00000164742	ENST00000297323	T	0.33438	1.41	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.052646	0.85682	D	0.000000	T	0.33089	0.0851	L	0.39566	1.225	0.53005	D	0.999966	B	0.15473	0.013	B	0.37833	0.259	T	0.14117	-1.0484	10	0.18710	T	0.47	.	14.039	0.64663	0.0:0.0:0.0:1.0	.	1035	Q08828	ADCY1_HUMAN	C	1035	ENSP00000297323:F1035C	ENSP00000297323:F1035C	F	+	2	0	ADCY1	45719863	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	7.599000	0.82757	2.200000	0.70718	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	1	0	1	73	303	0	68	0	1.007245e-01	0	3	0	68	2		0	0	0	0	0	2	1	1	71	294	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNS3	64759	broad.mit.edu	37	7	47317697	47317697	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47317697T>C	ENST00000398879.1	-	31	4681	c.4315A>G	c.(4315-4317)Att>Gtt	p.I1439V	TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V|TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V			Q68CZ2	TENS3_HUMAN	tensin 3			64					GGGGAACCAATCATGACCTTT	0.592000																								0							SO:0001583	missense			ENST00000398879.1	1	1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982934	0.74474	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730	T;T;T	0.42131	0.98;0.98;0.98	5.18	5.18	0.71444	Phosphotyrosine interaction domain (1);Tensin phosphotyrosine-binding domain (1);	0.280669	0.35936	N	0.002894	T	0.63558	0.2521	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66999	-0.5781	10	0.59425	D	0.04	-31.1124	12.9921	0.58625	0.0:0.0:0.0:1.0	.	1439	Q68CZ2	TENS3_HUMAN	V	1439;1439;1199	ENSP00000312143:I1439V;ENSP00000381854:I1439V;ENSP00000347968:I1199V	ENSP00000312143:I1439V	I	-	1	0	TNS3	47284222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.844000	0.86867	1.963000	0.57068	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	1	0	1	38	149	0	39	1	1	26	271	0	39	2		0	0	0	0	0	2	1	1	36	148	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNS3	64759	broad.mit.edu	37	7	47333423	47333423	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47333423C>T	ENST00000398879.1	-	25	4046	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E|TNS3_ENST00000355730.3_Missense_Mutation_p.G987E			Q68CZ2	TENS3_HUMAN	tensin 3			64					GGCCAAATCTCCAGCTGTGGC	0.433000																								0							SO:0001583	missense			ENST00000398879.1	1	1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907899	0.72868	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.94793	-3.06;-3.06;-3.52	5.2	4.29	0.51040	SH2 motif (4);	1.364500	0.04355	N	0.356346	D	0.96445	0.8840	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.88733	0.3238	10	0.62326	D	0.03	-12.7553	8.8008	0.34907	0.1707:0.6643:0.165:0.0	.	1227	Q68CZ2	TENS3_HUMAN	E	1227;1227;987;683	ENSP00000312143:G1227E;ENSP00000381854:G1227E;ENSP00000347968:G987E	ENSP00000312143:G1227E	G	-	2	0	TNS3	47299948	0.999000	0.42202	0.895000	0.35142	0.974000	0.67602	3.456000	0.53000	1.264000	0.44198	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	1	0	1	39	188	0	52	1	1	14	209	0	52	2		0	0	0	0	0	2	1	1	38	183	0	50	2								-2.994551	1	1	120828	3	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TNS3	64759	broad.mit.edu	37	7	47342835	47342835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47342835G>A	ENST00000398879.1	-	22	3536	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V|TNS3_ENST00000355730.3_Missense_Mutation_p.A817V			Q68CZ2	TENS3_HUMAN	tensin 3			64					AGCCCCTGTCGCTGTCAGCGG	0.667000																								0							SO:0001583	missense			ENST00000398879.1	1	1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283027	0.23392	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.66	2.42	0.29668	.	1.979490	0.02117	N	0.055295	T	0.31827	0.0809	L	0.27053	0.805	0.09310	N	1	B	0.28880	0.226	B	0.20184	0.028	T	0.15954	-1.0419	10	0.22109	T	0.4	-5.5552	2.7835	0.05367	0.2537:0.0:0.5239:0.2224	.	1057	Q68CZ2	TENS3_HUMAN	V	1057;1167;1057;817;513;1160	ENSP00000312143:A1057V;ENSP00000381854:A1057V;ENSP00000347968:A817V;ENSP00000414358:A1160V	ENSP00000312143:A1057V	A	-	2	0	TNS3	47309360	0.033000	0.19621	0.003000	0.11579	0.095000	0.18619	2.044000	0.41241	0.718000	0.32166	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	1	0	1	18	163	0	28	1	9.999569e-01	3	156	0	28	2		0	0	0	0	0	2	1	9.999843e-01	17	161	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.730000	1.000000	1.000000	0.972562	0.990000	1	9.400000e-01	1
TNS3	64759	broad.mit.edu	37	7	47384365	47384365	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47384365T>G	ENST00000398879.1	-	20	3004	c.2638A>C	c.(2638-2640)Aaa>Caa	p.K880Q	TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q|TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q			Q68CZ2	TENS3_HUMAN	tensin 3			64					CGTCCTCCTTTGTGCTGACTG	0.602000																								0							SO:0001583	missense			ENST00000398879.1	1	1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	7.677	0.688120	0.14973	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94232	-2.93;-2.93;-3.38;-3.06	5.55	3.05	0.35203	.	1.937310	0.01889	N	0.038421	D	0.88288	0.6396	L	0.27053	0.805	0.18873	N	0.999984	B	0.30482	0.281	B	0.24701	0.055	T	0.75190	-0.3405	10	0.14252	T	0.57	-2.8134	9.618	0.39704	0.0:0.0:0.3427:0.6573	.	880	Q68CZ2	TENS3_HUMAN	Q	880;990;880;640;336;983	ENSP00000312143:K880Q;ENSP00000381854:K880Q;ENSP00000347968:K640Q;ENSP00000414358:K983Q	ENSP00000312143:K880Q	K	-	1	0	TNS3	47350890	0.292000	0.24362	0.005000	0.12908	0.488000	0.33401	1.377000	0.34317	0.335000	0.23614	0.379000	0.24179	AAA		TCGA-IB-7651-01A-11D-2154-08	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	1	0	1	73	290	0	63	1	1	11	164	0	63	2		0	0	0	0	0	2	1	1	70	283	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNS3	64759	broad.mit.edu	37	7	47407968	47407968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47407968G>A	ENST00000398879.1	-	17	2641	c.2275C>T	c.(2275-2277)Cgg>Tgg	p.R759W	TNS3_ENST00000311160.9_Missense_Mutation_p.R759W|TNS3_ENST00000355730.3_Missense_Mutation_p.R519W			Q68CZ2	TENS3_HUMAN	tensin 3			64					TCACCTTGCCGCCCGGTGGCC	0.637000																								0							SO:0001583	missense			ENST00000398879.1	1	1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500644	0.64298	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94537	-3.02;-3.02;-3.45;-3.16	4.81	-7.87	0.01183	.	1.491510	0.04198	N	0.329518	D	0.89262	0.6665	L	0.29908	0.895	0.09310	N	0.999994	D	0.56968	0.978	P	0.44477	0.451	D	0.84734	0.0747	10	0.54805	T	0.06	-27.1163	8.7967	0.34883	0.0:0.1648:0.3765:0.4587	.	759	Q68CZ2	TENS3_HUMAN	W	759;869;759;519;215;862	ENSP00000312143:R759W;ENSP00000381854:R759W;ENSP00000347968:R519W;ENSP00000414358:R862W	ENSP00000312143:R759W	R	-	1	2	TNS3	47374493	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.728000	0.04925	-1.169000	0.02772	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	0	0	0	37	1200	0	227	1	9.099580e-01	3	131	0	227	2		0	0	0	0	0	2	1	9.940156e-01	37	1177	1	226	19								-2.821362	1	0	118568	5	40	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.350000	0.250000	1.000000	0.350000	0.397177	0.350000	0	3.000000e-01	4.300000e-01
C7orf69	80099	broad.mit.edu	37	7	47859172	47859172	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47859172A>G	ENST00000258776.4	+	3	391	c.346A>G	c.(346-348)Aat>Gat	p.N116D	C7orf69_ENST00000418326.2_Missense_Mutation_p.N97D|PKD1L1_ENST00000289672.2_Intron	NM_025031.2	NP_079307.2	Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69			2					CATGGATGGAAATAACTGCTG	0.408000																								0							SO:0001583	missense			ENST00000258776.4	1	1	hg19	CCDS43581.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273272	0.23221	.	.	ENSG00000136275	ENST00000258776;ENST00000418326	T	0.51817	0.69	4.32	-3.18	0.05186	.	.	.	.	.	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.33690	0.168	T	0.18650	-1.0330	9	0.87932	D	0	.	6.1774	0.20451	0.335:0.1688:0.4963:0.0	.	116	Q9H7B7	CG069_HUMAN	D	116;97	ENSP00000258776:N116D	ENSP00000258776:N116D	N	+	1	0	C7orf69	47825697	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.176000	0.09811	-0.459000	0.07013	-0.250000	0.11733	AAT		TCGA-IB-7651-01A-11D-2154-08	C7orf69-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340973.1	1	0	1	28	112	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	28	108	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PKD1L1	168507	broad.mit.edu	37	7	47886656	47886656	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47886656G>A	ENST00000289672.2	-	32	5024	c.4974C>T	c.(4972-4974)ggC>ggT	p.G1658G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	p.G1658G(1)	BBS9/PKD1L1(2)	142					AGGATAAATAGCCTACACTGG	0.393000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000289672.2	1	1	hg19	CCDS34633.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	1	44	130	0	29	0	0	0	1	0	29	2		0	0	0	0	0	2	1	1	43	126	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1L1	168507	broad.mit.edu	37	7	47906046	47906046	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47906046A>G	ENST00000289672.2	-	25	4113	c.4063T>C	c.(4063-4065)Tca>Cca	p.S1355P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1		BBS9/PKD1L1(2)	142					CTGCATACTGAAGAAATTAAT	0.458000																								0							SO:0001583	missense			ENST00000289672.2	1	1	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822259	0.32237	.	.	ENSG00000158683	ENST00000289672	T	0.22539	1.95	4.94	3.75	0.43078	Egg jelly receptor, REJ-like (1);	0.367956	0.22074	N	0.064993	T	0.37237	0.0996	L	0.60455	1.87	0.26739	N	0.970422	D	0.76494	0.999	D	0.66196	0.942	T	0.12502	-1.0545	10	0.66056	D	0.02	-10.6409	9.1496	0.36955	0.6412:0.3588:0.0:0.0	.	1355	Q8TDX9	PK1L1_HUMAN	P	1355	ENSP00000289672:S1355P	ENSP00000289672:S1355P	S	-	1	0	PKD1L1	47872571	1.000000	0.71417	0.544000	0.28141	0.224000	0.24922	1.602000	0.36783	0.706000	0.31912	0.533000	0.62120	TCA		TCGA-IB-7651-01A-11D-2154-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	1	89	429	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	87	423	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKD1L1	168507	broad.mit.edu	37	7	47933614	47933614	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47933614C>A	ENST00000289672.2	-	15	2364	c.2314G>T	c.(2314-2316)Ggc>Tgc	p.G772C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1		BBS9/PKD1L1(2)	142					ACCTCCAGGCCCACACAGTAG	0.592000																								0							SO:0001583	missense			ENST00000289672.2	0	1	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.505172	0.44558	.	.	ENSG00000158683	ENST00000289672	T	0.69685	-0.42	5.23	2.19	0.27852	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.393919	0.21761	N	0.069506	T	0.70684	0.3252	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.58645	-0.7600	10	0.44086	T	0.13	-13.2627	8.0761	0.30718	0.0:0.4701:0.441:0.089	.	772	Q8TDX9	PK1L1_HUMAN	C	772	ENSP00000289672:G772C	ENSP00000289672:G772C	G	-	1	0	PKD1L1	47900139	0.000000	0.05858	0.385000	0.26158	0.847000	0.48162	0.447000	0.21710	0.570000	0.29347	0.543000	0.68304	GGC		TCGA-IB-7651-01A-11D-2154-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	0	14	307	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	9.997259e-01	14	299	0	68	2								-15.109240	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.530000	0.300000	1.000000	0.500000	0.566972	0.530000	0	4.000000e-01	7.100000e-01
PKD1L1	168507	broad.mit.edu	37	7	47979804	47979804	+	Missense_Mutation	SNP	C	C	T	rs145121666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47979804C>T	ENST00000289672.2	-	3	321	c.271G>A	c.(271-273)Gct>Act	p.A91T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1		BBS9/PKD1L1(2)	142					TGCCTGGAAGCTGATGAGGAT	0.463000																								0							SO:0001583	missense			ENST00000289672.2	1	1	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899348	0.33535	.	.	ENSG00000158683	ENST00000289672	T	0.23754	1.89	2.82	0.899	0.19271	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	P	0.36065	0.535	B	0.34301	0.179	T	0.19647	-1.0299	9	0.42905	T	0.14	-0.8432	8.89	0.35427	0.0:0.5528:0.4472:0.0	.	91	Q8TDX9	PK1L1_HUMAN	T	91	ENSP00000289672:A91T	ENSP00000289672:A91T	A	-	1	0	PKD1L1	47946329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.282000	0.18829	0.231000	0.21079	-0.156000	0.13503	GCT		TCGA-IB-7651-01A-11D-2154-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	1	70	335	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	1	68	326	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HUS1	3364	broad.mit.edu	37	7	48018022	48018022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48018022C>T	ENST00000258774.5	-	3	372	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)			13		Breast(660;0.00139)			ACCAGCTCCACGGAGACCGTG	0.443000								Direct reversal of damage;Other conserved DNA damage response genes					Ovarian(103;466 1517 21788 34610 43890)											0							SO:0001583	missense			ENST00000258774.5	1	1	hg19	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757039	0.49468	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.31	-0.114	0.13564	.	0.364925	0.30869	N	0.008711	T	0.15392	0.0371	M	0.69823	2.125	0.23598	N	0.997329	D	0.56287	0.975	P	0.53760	0.734	T	0.22941	-1.0202	10	0.14252	T	0.57	-8.5017	5.1699	0.15105	0.0:0.4099:0.2794:0.3107	.	117	O60921	HUS1_HUMAN	M	117;96;96;96	ENSP00000258774:V117M;ENSP00000416588:V96M;ENSP00000404855:V96M;ENSP00000398806:V96M	ENSP00000258774:V117M	V	-	1	0	HUS1	47984547	0.981000	0.34729	0.011000	0.14972	0.489000	0.33432	2.449000	0.44935	-0.345000	0.08325	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	1	0	1	51	237	0	71	1	9.999878e-01	15	66	0	71	2		0	0	0	0	0	2	1	1	51	232	0	70	2								-3.403709	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA13	154664	broad.mit.edu	37	7	48259027	48259027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259027G>A	ENST00000435803.1	+	4	388	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					ACAAGACCTGGCAGAGGAAAT	0.398000																								0							SO:0001583	missense			ENST00000435803.1	1	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499576	0.64298	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	5.58	4.69	0.59074	.	0.000000	0.47455	D	0.000231	D	0.90916	0.7145	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.65233	0.859;0.933	D	0.90794	0.4689	10	0.51188	T	0.08	.	12.2406	0.54540	0.0:0.0:0.8302:0.1698	.	122;122	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	T	122	ENSP00000411096:A122T	ENSP00000409268:A122T	A	+	1	0	ABCA13	48229573	0.834000	0.29399	0.069000	0.20011	0.532000	0.34746	1.626000	0.37039	1.466000	0.48025	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1	95	309	0	103	0	5.607747e-02	0	2	0	103	2		0	0	0	0	0	2	1	1	94	302	0	103	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA13	154664	broad.mit.edu	37	7	48259051	48259051	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259051G>A	ENST00000435803.1	+	4	412	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					TGGAATGATGGACAAGGCAAA	0.423000																								0							SO:0001583	missense			ENST00000435803.1	1	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391810	0.25118	.	.	ENSG00000179869	ENST00000435803	T	0.30981	1.51	5.58	3.77	0.43336	.	0.553548	0.16120	N	0.228711	T	0.27278	0.0669	L	0.47716	1.5	0.80722	D	1	B;B	0.15141	0.002;0.012	B;B	0.14578	0.003;0.011	T	0.02610	-1.1134	10	0.27785	T	0.31	.	11.5377	0.50648	0.1596:0.0:0.8404:0.0	.	130;130	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	N	130	ENSP00000411096:D130N	ENSP00000409268:D130N	D	+	1	0	ABCA13	48229597	0.983000	0.35010	0.864000	0.33941	0.340000	0.28889	0.453000	0.21811	0.408000	0.25621	-0.797000	0.03246	GAC		TCGA-IB-7651-01A-11D-2154-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1	100	390	0	123	0	1.889253e-01	0	4	0	123	2		0	0	0	0	0	2	1	1	99	379	0	123	2								-20.000000	1	0	120816	3	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA13	154664	broad.mit.edu	37	7	48311809	48311809	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48311809A>C	ENST00000435803.1	+	17	2570	c.2546A>C	c.(2545-2547)aAa>aCa	p.K849T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					AAAAGAGCTAAATTGGAAAAC	0.299000																								0							SO:0001583	missense			ENST00000435803.1	1	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.387	-0.125226	0.06795	.	.	ENSG00000179869	ENST00000435803	D	0.87966	-2.32	5.86	3.45	0.39498	.	0.650904	0.14020	N	0.346875	T	0.76912	0.4054	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.58934	-0.7548	10	0.17832	T	0.49	.	6.849	0.24005	0.5738:0.2762:0.0:0.15	.	849	Q86UQ4	ABCAD_HUMAN	T	849	ENSP00000411096:K849T	ENSP00000411096:K849T	K	+	2	0	ABCA13	48282355	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.306000	0.19279	0.461000	0.27071	-0.299000	0.09455	AAA		TCGA-IB-7651-01A-11D-2154-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1	39	183	0	50	0	0	1	0	0	50	2		0	0	0	0	0	2	1	1	39	180	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ABCA13	154664	broad.mit.edu	37	7	48313692	48313692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48313692G>A	ENST00000435803.1	+	17	4453	c.4429G>A	c.(4429-4431)Gtc>Atc	p.V1477I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					ACTTACTACAGTCTTTGAAAA	0.279000																								0							SO:0001583	missense			ENST00000435803.1	1	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	3.931	-0.016142	0.07681	.	.	ENSG00000179869	ENST00000435803	D	0.86230	-2.09	5.44	0.957	0.19613	.	0.864468	0.09652	N	0.773524	T	0.74619	0.3740	L	0.31294	0.92	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.57359	-0.7825	9	.	.	.	.	0.6646	0.00848	0.2633:0.1254:0.3668:0.2445	.	1477	Q86UQ4	ABCAD_HUMAN	I	1477	ENSP00000411096:V1477I	.	V	+	1	0	ABCA13	48284238	0.092000	0.21681	0.047000	0.18901	0.509000	0.34042	0.727000	0.25999	0.369000	0.24510	-0.251000	0.11542	GTC		TCGA-IB-7651-01A-11D-2154-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1	12	67	0	27	0	2.740139e-02	0	2	0	27	2		0	0	0	0	0	2	1	9.992617e-01	11	66	0	27	2								-19.982960	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.996658	0.990000	1	9.900000e-01	1
ABCA13	154664	broad.mit.edu	37	7	48314629	48314629	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48314629A>G	ENST00000435803.1	+	17	5390	c.5366A>G	c.(5365-5367)gAa>gGa	p.E1789G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					ATCACCAAGGAAGACTTCGCA	0.388000																								0							SO:0001583	missense			ENST00000435803.1	1	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606263	0.46527	.	.	ENSG00000179869	ENST00000435803	T	0.19938	2.11	5.92	4.74	0.60224	.	0.131057	0.34314	N	0.004079	T	0.31734	0.0806	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.02365	-1.1170	9	.	.	.	.	11.2484	0.49010	0.8471:0.1529:0.0:0.0	.	1789	Q86UQ4	ABCAD_HUMAN	G	1789	ENSP00000411096:E1789G	.	E	+	2	0	ABCA13	48285175	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	3.938000	0.56583	1.029000	0.39812	0.455000	0.32223	GAA		TCGA-IB-7651-01A-11D-2154-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1	37	148	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1	37	146	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					TTATTTAATGCCCTTCTCAGG	0.308000																								0							SO:0001583	missense			ENST00000435803.1	0	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1	14	96	0	22	0	0	0	1	0	22	2		0	0	0	0	0	2	1	9.997829e-01	14	93	0	22	2								-19.997220	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.870000	1.000000	1.000000	0.992844	0.990000	1	9.900000e-01	1
ABCA13	154664	broad.mit.edu	37	7	48378016	48378016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48378016G>A	ENST00000435803.1	+	29	10192	c.10168G>A	c.(10168-10170)Gat>Aat	p.D3390N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					GTTGCACATTGATGTAGACAA	0.383000																								0							SO:0001583	missense			ENST00000435803.1	0	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935998	0.52972	.	.	ENSG00000179869	ENST00000435803	D	0.84944	-1.92	5.43	5.43	0.79202	.	0.000000	0.51477	D	0.000085	D	0.89574	0.6754	L	0.56199	1.76	0.80722	D	1	P;D	0.71674	0.859;0.998	B;D	0.70935	0.301;0.971	D	0.88033	0.2776	10	0.34782	T	0.22	.	14.7439	0.69477	0.0:0.0:1.0:0.0	.	1092;3390	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3390	ENSP00000411096:D3390N	ENSP00000411096:D3390N	D	+	1	0	ABCA13	48348562	0.998000	0.40836	0.053000	0.19242	0.011000	0.07611	2.561000	0.45905	2.527000	0.85204	0.563000	0.77884	GAT		TCGA-IB-7651-01A-11D-2154-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	0	0	1	6	46	0	9	0	5.050505e-02	0	3	0	9	2		0	0	0	0	0	2	1	9.638568e-01	6	44	0	9	2								-11.953740	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.590000	1.000000	1.000000	0.956683	0.990000	1	9.100000e-01	1
RADIL	55698	broad.mit.edu	37	7	4841394	4841394	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4841394C>T	ENST00000399583.3	-	12	2919	c.2732G>A	c.(2731-2733)gGc>gAc	p.G911D	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G671D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains			41		Ovarian(82;0.0175)			AGGCTCAGGGCCAAGTGGAGT	0.716000																								0							SO:0001583	missense			ENST00000399583.3	1	1	hg19	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473350	0.26423	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000538469	T;T	0.06933	3.31;3.24	4.8	2.6	0.31112	.	0.381481	0.27518	N	0.019006	T	0.10508	0.0257	L	0.60455	1.87	0.19575	N	0.999961	P;D	0.54772	0.544;0.968	B;P	0.51135	0.175;0.66	T	0.07908	-1.0748	10	0.07644	T	0.81	-19.2591	5.8629	0.18759	0.3355:0.562:0.0:0.1025	.	911;219	Q96JH8;Q75LH2	RADIL_HUMAN;.	D	911;882;671	ENSP00000382492:G911D;ENSP00000442966:G671D	ENSP00000320946:G882D	G	-	2	0	RADIL	4807920	0.529000	0.26322	0.015000	0.15790	0.022000	0.10575	0.844000	0.27654	0.998000	0.38996	-0.217000	0.12591	GGC		TCGA-IB-7651-01A-11D-2154-08	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	1	19	91	0	19	0	3.318584e-02	1	1	0	19	2		0	0	0	0	0	2	1	9.999941e-01	19	89	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999819	0.990000	1	9.900000e-01	1
ABCA13	154664	broad.mit.edu	37	7	48556458	48556458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48556458C>T	ENST00000435803.1	+	52	13802	c.13778C>T	c.(13777-13779)gCc>gTc	p.A4593V	ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					CGGTTGCTAGCCATCATCTCC	0.448000																								0							SO:0001583	missense			ENST00000435803.1	1	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848013	0.71603	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87334	-2.08;-2.24;-2.2	5.35	4.47	0.54385	.	0.000000	0.49305	D	0.000152	D	0.91778	0.7399	M	0.70595	2.14	0.41246	D	0.986678	D;D;D	0.89917	0.992;0.999;1.0	D;D;D	0.91635	0.939;0.982;0.999	D	0.91041	0.4871	10	0.42905	T	0.14	.	11.201	0.48741	0.0:0.9155:0.0:0.0845	.	323;2295;4593	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	V	4593;366;323	ENSP00000411096:A4593V;ENSP00000391042:A366V;ENSP00000442634:A323V	ENSP00000391042:A366V	A	+	2	0	ABCA13	48527004	0.909000	0.30893	0.973000	0.42090	0.979000	0.70002	1.548000	0.36201	1.233000	0.43693	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1	105	435	0	83	1	9.997164e-02	3	0	0	83	2		0	0	0	0	0	2	1	1	105	430	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RADIL	55698	broad.mit.edu	37	7	4874574	4874574	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874574C>T	ENST00000399583.3	-	4	1267	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	RADIL_ENST00000536091.1_Silent_p.Q360Q|RADIL_ENST00000538469.1_Silent_p.Q120Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains			41		Ovarian(82;0.0175)			GGGGCTGGGCCTGCGCGGGGT	0.746000																								0							SO:0001819	synonymous_variant			ENST00000399583.3	0	1	hg19	CCDS43544.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	0	15	91	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.998918e-01	14	89	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.980000	1.000000	1.000000	0.997261	0.990000	1	9.900000e-01	1
RADIL	55698	broad.mit.edu	37	7	4874821	4874821	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874821C>T	ENST00000399583.3	-	4	1020	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q|RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains			41		Ovarian(82;0.0175)			GGAGGGGGTCCGCTGGCCCAC	0.677000																								0							SO:0001583	missense			ENST00000399583.3	1	1	hg19	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.94|11.94	1.789670|1.789670	0.31685|0.31685	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000544486|ENST00000399583;ENST00000536091;ENST00000538469	.|T;T;T	.|0.06768	.|3.26;3.26;3.26	4.75|4.75	3.87|3.87	0.44632|0.44632	.|Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.|0.678925	.|0.14484	.|N	.|0.316794	T|T	0.14313|0.14313	0.0346|0.0346	L|L	0.60455|0.60455	1.87|1.87	0.31687|0.31687	N|N	0.642347|0.642347	.|D	.|0.63046	.|0.992	.|P	.|0.50570	.|0.644	T|T	0.07731|0.07731	-1.0757|-1.0757	6|10	0.59425|0.27082	D|T	0.04|0.32	-7.1694|-7.1694	10.5807|10.5807	0.45255|0.45255	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	.|278	.|Q96JH8	.|RADIL_HUMAN	R|Q	13|278;278;38	.|ENSP00000382492:R278Q;ENSP00000442533:R278Q;ENSP00000442966:R38Q	ENSP00000437686:G13R|ENSP00000382492:R278Q	G|R	-|-	1|2	0|0	RADIL|RADIL	4841347|4841347	1.000000|1.000000	0.71417|0.71417	0.840000|0.840000	0.33206|0.33206	0.172000|0.172000	0.22775|0.22775	3.422000|3.422000	0.52749|0.52749	1.017000|1.017000	0.39495|0.39495	-0.119000|-0.119000	0.15052|0.15052	GGA|CGG		TCGA-IB-7651-01A-11D-2154-08	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	1	22	112	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999992e-01	22	109	0	19	2								-20.000000	1	1	121092	1	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999866	0.990000	1	9.900000e-01	1
PAPOLB	56903	broad.mit.edu	37	7	4899539	4899539	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4899539G>T	ENST00000404991.1	-	1	2086	c.1900C>A	c.(1900-1902)Cta>Ata	p.L634I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)			14		Ovarian(82;0.0175)			TATAGGATTAGATATGTTTGT	0.413000																								0							SO:0001583	missense			ENST00000404991.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.764	1.170825	0.21621	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.27	3.39	0.38822	.	.	.	.	.	T	0.24547	0.0595	N	0.04508	-0.205	0.18873	N	0.999988	B	0.23891	0.093	B	0.29785	0.107	T	0.26292	-1.0107	8	0.54805	T	0.06	.	10.481	0.44693	0.0964:0.0:0.9036:0.0	.	635	A4D1Z6	.	I	634	.	ENSP00000384700:L634I	L	-	1	2	PAPOLB	4866065	1.000000	0.71417	0.455000	0.27031	0.770000	0.43624	5.330000	0.65899	1.398000	0.46701	0.591000	0.81541	CTA		TCGA-IB-7651-01A-11D-2154-08	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	1	0	1	29	120	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	29	117	0	43	2								-3.592439	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PAPOLB	56903	broad.mit.edu	37	7	4900560	4900560	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4900560C>T	ENST00000404991.1	-	1	1065	c.879G>A	c.(877-879)cgG>cgA	p.R293R	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)			14		Ovarian(82;0.0175)			AATTAAGATTCCGTTCTTCAG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000404991.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	1	0	1	104	479	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	103	462	0	109	2								-3.267823	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMD2	221938	broad.mit.edu	37	7	4959909	4959909	+	Silent	SNP	G	G	A	rs149802923	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4959909G>A	ENST00000404774.3	-	3	377	c.183C>T	c.(181-183)gaC>gaT	p.D61D	MMD2_ENST00000406755.1_Silent_p.D61D|MMD2_ENST00000401401.3_Silent_p.D61D	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2			14		Ovarian(82;0.0175)			CCCAGTCATCGTCCGACAGGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000404774.3	1	0	hg19	CCDS47529.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	1	0	1	9	57	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.949712e-01	8	57	0	23	2								-3.824160	1	1	121038	89	48	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.987712	0.990000	1	9.900000e-01	1
VWC2	375567	broad.mit.edu	37	7	49842318	49842318	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2			8					TGTCTCCATGCGAGAGGTGTC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000340652.4	1	1	hg19	CCDS5508.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	0	0	1	99	472	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	97	459	0	109	2								-4.045123	1	1	121412	30	48	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IKZF1	10320	broad.mit.edu	37	7	50444294	50444294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444294G>T	ENST00000331340.3	+	4	379	c.224G>T	c.(223-225)gGg>gTg	p.G75V	IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V|IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	p.?(131)		276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)			GAAATGAATGGGGAAGAATGT	0.488000			D,T	BCL6	ALL, DLBCL										Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)						SO:0001583	missense			ENST00000331340.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.60	3.169750	0.57584	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.07800	3.31;3.16;4.22;3.38;3.31;3.31	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14924	-1.0455	9	0.87932	D	0	-15.7728	17.4837	0.87682	0.0:0.0:1.0:0.0	.	75;75	Q13422-7;Q13422	.;IKZF1_HUMAN	V	75	ENSP00000352123:G75V;ENSP00000401507:G75V;ENSP00000342485:G75V;ENSP00000349928:G75V;ENSP00000331614:G75V;ENSP00000413025:G75V	ENSP00000331614:G75V	G	+	2	0	IKZF1	50411788	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.651000	0.67951	2.204000	0.70986	0.313000	0.20887	GGG		TCGA-IB-7651-01A-11D-2154-08	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1	94	344	0	90	0	8.620756e-01	0	15	0	90	2		0	0	0	0	0	2	1	1	90	339	0	90	2								-3.149895	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IKZF1	10320	broad.mit.edu	37	7	50444451	50444451	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444451C>T	ENST00000331340.3	+	4	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000440768.2_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Silent_p.I127I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	p.?(131)		276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)			TCATTTGCATCGGGCCCAATG	0.517000			D,T	BCL6	ALL, DLBCL										Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)						SO:0001819	synonymous_variant			ENST00000331340.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1	39	200	0	36	0	6.936720e-01	1	13	0	36	2		0	0	0	0	0	2	1	1	38	193	0	35	2								-19.922160	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
IKZF1	10320	broad.mit.edu	37	7	50459558	50459558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50459558C>A	ENST00000331340.3	+	7	1002	c.847C>A	c.(847-849)Ctt>Att	p.L283I	IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	p.?(131)		276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)			TCAGAAATTTCTTGGTAAGAG	0.408000			D,T	BCL6	ALL, DLBCL										Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)						SO:0001583	missense			ENST00000331340.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136583	0.37728	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T	0.06142	3.34;3.46;3.43;3.34;3.46	5.23	4.35	0.52113	.	0.060996	0.64402	D	0.000004	T	0.05044	0.0135	.	.	.	0.80722	D	1	B;B;B	0.22480	0.07;0.01;0.042	B;B;B	0.21360	0.034;0.03;0.015	T	0.38542	-0.9656	9	0.14252	T	0.57	-18.0347	13.6093	0.62068	0.0:0.2506:0.7494:0.0	.	196;241;283	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	I	196;241;283;196;241	ENSP00000342750:L196I;ENSP00000352123:L241I;ENSP00000331614:L283I;ENSP00000396554:L196I;ENSP00000413025:L241I	ENSP00000331614:L283I	L	+	1	0	IKZF1	50427052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.621000	0.61233	1.192000	0.43071	0.563000	0.77884	CTT		TCGA-IB-7651-01A-11D-2154-08	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1	18	77	0	18	0	4.094501e-01	0	7	0	18	2		0	0	0	0	0	2	1	9.999889e-01	17	76	0	17	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999892	0.990000	1	9.900000e-01	1
IKZF1	10320	broad.mit.edu	37	7	50468219	50468219	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50468219G>T	ENST00000331340.3	+	8	1609	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	p.?(28)|p.G485D(1)		276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)			GGCTGCCACGGCTTCCGTGAT	0.587000			D,T	BCL6	ALL, DLBCL										Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	29	Unknown(28)|Substitution - Missense(1)						SO:0001583	missense			ENST00000331340.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	31	5.065362	0.93898	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.71748	-0.4499	9	0.72032	D	0.01	-5.2298	19.9376	0.97146	0.0:0.0:1.0:0.0	.	398;255;398;443;485	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	V	255;398;443;342;398;485;398;443	ENSP00000340080:G255V;ENSP00000342750:G398V;ENSP00000352123:G443V;ENSP00000342485:G342V;ENSP00000349928:G398V;ENSP00000331614:G485V;ENSP00000396554:G398V;ENSP00000413025:G443V	ENSP00000331614:G485V	G	+	2	0	IKZF1	50435713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.899000	0.87370	2.711000	0.92665	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1	45	189	0	48	0	9.968452e-01	0	40	0	48	2		0	0	0	0	0	2	1	1	44	188	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRB10	2887	broad.mit.edu	37	7	50685801	50685801	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50685801C>T	ENST00000401949.1	-	10	1282	c.813G>A	c.(811-813)caG>caA	p.Q271Q	GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000398810.2_Silent_p.Q213Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000335866.3_Silent_p.Q213Q|GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000403097.1_Silent_p.Q265Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10			41	Glioma(55;0.08)|all_neural(89;0.245)				CATTTGACTGCTGGCACCAAG	0.403000									Russell-Silver syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	ENST00000401949.1	1	1	hg19	CCDS43582.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1	1	0	1	64	250	0	68	1	1	36	87	0	68	2		0	0	0	0	0	2	1	1	64	245	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRB10	2887	broad.mit.edu	37	7	50694671	50694671	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50694671A>C	ENST00000401949.1	-	8	978	c.509T>G	c.(508-510)gTt>gGt	p.V170G	GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G|GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000403097.1_Missense_Mutation_p.V164G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10			41	Glioma(55;0.08)|all_neural(89;0.245)				AAAGACTTTAACATCCTGCAA	0.383000									Russell-Silver syndrome															0							SO:0001583	missense	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	ENST00000401949.1	1	1	hg19	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471788	0.84533	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.18	5.18	0.71444	Ras-association (3);	0.059542	0.64402	D	0.000002	T	0.46132	0.1377	M	0.73598	2.24	0.80722	D	1	D;D;D	0.62365	0.991;0.987;0.985	D;P;D	0.68039	0.94;0.875;0.955	T	0.49844	-0.8896	10	0.87932	D	0	-16.112	15.0634	0.71973	1.0:0.0:0.0:0.0	.	164;170;170	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	G	170;164;112;112;112;164;112;170;112;170;112	ENSP00000381793:V170G;ENSP00000406716:V164G;ENSP00000338543:V112G;ENSP00000381790:V112G;ENSP00000385189:V112G;ENSP00000385544:V164G;ENSP00000385366:V112G;ENSP00000349818:V170G;ENSP00000385046:V112G;ENSP00000385770:V170G;ENSP00000385748:V112G	ENSP00000338543:V112G	V	-	2	0	GRB10	50662165	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.339000	0.96797	1.961000	0.56991	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1	1	0	1	188	818	0	223	1	1	34	96	0	223	2		0	0	0	0	0	2	1	1	183	795	0	220	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COBL	23242	broad.mit.edu	37	7	51092833	51092833	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51092833G>A	ENST00000265136.7	-	12	3906	c.3741C>T	c.(3739-3741)tcC>tcT	p.S1247S	COBL_ENST00000395542.2_Silent_p.S1329S|RP4-724E13.2_ENST00000582616.1_RNA	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein			65	Glioma(55;0.08)				CCCCTGTGCCGGAGCGGATGG	0.632000													NSCLC(189;2119 2138 12223 30818 34679)											0							SO:0001819	synonymous_variant			ENST00000265136.7	1	1	hg19	CCDS34637.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	1	0	1	151	780	0	201	1	9.982132e-01	21	29	0	201	2		0	0	0	0	0	2	1	1	149	766	0	199	2								-2.842426	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COBL	23242	broad.mit.edu	37	7	51095503	51095503	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51095503G>A	ENST00000265136.7	-	10	3455	c.3290C>T	c.(3289-3291)cCt>cTt	p.P1097L	COBL_ENST00000395542.2_Missense_Mutation_p.P1179L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein			65	Glioma(55;0.08)				CTGGACAACAGGTTTGAATTT	0.498000													NSCLC(189;2119 2138 12223 30818 34679)											0							SO:0001583	missense			ENST00000265136.7	1	1	hg19	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808808	0.70797	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.62105	0.08;0.26;0.15;0.05	5.27	5.27	0.74061	.	0.000000	0.41823	D	0.000809	T	0.70237	0.3201	L	0.36672	1.1	0.49051	D	0.999742	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.995;0.999;0.999;1.0	T	0.72903	-0.4151	10	0.87932	D	0	.	12.9135	0.58192	0.0:0.0:0.8378:0.1622	.	1097;1154;1097;1179;639	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	L	1097;989;982;1179	ENSP00000265136:P1097L;ENSP00000401204:P989L;ENSP00000413498:P982L;ENSP00000378912:P1179L	ENSP00000265136:P1097L	P	-	2	0	COBL	51062997	1.000000	0.71417	0.088000	0.20740	0.969000	0.65631	5.495000	0.66912	2.440000	0.82611	0.563000	0.77884	CCT		TCGA-IB-7651-01A-11D-2154-08	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	1	0	1	123	542	0	123	1	1	51	69	0	123	2		0	0	0	0	0	2	1	1	122	533	0	122	2								-3.401794	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COBL	23242	broad.mit.edu	37	7	51096022	51096022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51096022C>T	ENST00000265136.7	-	10	2936	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	COBL_ENST00000395542.2_Missense_Mutation_p.G1006E	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein			65	Glioma(55;0.08)				ATCCTTCCATCCTTGTGTCTC	0.592000													NSCLC(189;2119 2138 12223 30818 34679)											0							SO:0001583	missense			ENST00000265136.7	0	1	hg19	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766409	0.02974	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.10860	2.84;2.83;2.84;2.84	3.4	-2.19	0.07015	.	2.794910	0.01829	N	0.034593	T	0.09247	0.0228	L	0.29908	0.895	0.09310	N	1	B;B;B;B;P	0.43938	0.386;0.386;0.294;0.228;0.822	B;B;B;B;P	0.46543	0.124;0.178;0.057;0.083;0.52	T	0.14254	-1.0479	10	0.16420	T	0.52	.	0.8905	0.01253	0.2411:0.1759:0.3627:0.2203	.	924;981;924;1006;466	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	E	924;816;809;1006	ENSP00000265136:G924E;ENSP00000401204:G816E;ENSP00000413498:G809E;ENSP00000378912:G1006E	ENSP00000265136:G924E	G	-	2	0	COBL	51063516	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.883000	0.04170	-0.642000	0.05480	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	0	0	8	327	0	64	1	7.382470e-01	3	104	0	64	2		0	0	0	0	0	2	1	9.889242e-01	8	322	0	64	2								-3.486514	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.300000	0.130000	1.000000	0.280000	0.350001	0.300000	0	2.000000e-01	4.400000e-01
COBL	23242	broad.mit.edu	37	7	51097021	51097021	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51097021T>C	ENST00000265136.7	-	10	1937	c.1772A>G	c.(1771-1773)gAa>gGa	p.E591G	COBL_ENST00000395542.2_Missense_Mutation_p.E673G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein			65	Glioma(55;0.08)				CCTTGCCTTTTCATGGGGCTG	0.537000													NSCLC(189;2119 2138 12223 30818 34679)											0							SO:0001583	missense			ENST00000265136.7	0	1	hg19	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.93|11.93	1.784582|1.784582	0.31593|0.31593	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000457306|ENST00000452534	T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15|.	5.59|5.59	-6.78|-6.78	0.01721|0.01721	.|.	6.206590|.	0.00725|.	N|.	0.000909|.	T|.	0.06325|.	0.0163|.	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|.	0.29305|.	-1.0016|.	10|.	0.22706|.	T|.	0.39|.	.|.	1.6637|1.6637	0.02797|0.02797	0.419:0.164:0.2654:0.1516|0.419:0.164:0.2654:0.1516	.|.	591;648;591;673;133|.	O75128-3;O75128-7;O75128;O75128-2;O75128-6|.	.;.;COBL_HUMAN;.;.|.	G|W	591;483;476;673;89|566	ENSP00000265136:E591G;ENSP00000401204:E483G;ENSP00000413498:E476G;ENSP00000378912:E673G|.	ENSP00000265136:E591G|.	E|X	-|-	2|3	0|0	COBL|COBL	51064515|51064515	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.893000|-0.893000	0.04127|0.04127	-0.959000|-0.959000	0.03618|0.03618	-0.850000|-0.850000	0.03035|0.03035	GAA|TGA		TCGA-IB-7651-01A-11D-2154-08	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	0	0	8	280	0	49	1	4.194598e-01	4	43	0	49	2		0	0	0	0	0	2	1	9.891830e-01	8	277	0	49	2								-9.306255	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.350000	0.160000	1.000000	0.320000	0.396895	0.350000	0	2.400000e-01	5.100000e-01
WIPI2	26100	broad.mit.edu	37	7	5269261	5269261	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5269261A>G	ENST00000288828.4	+	12	1376	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A	WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2			16		Ovarian(82;0.0175)			TCTGGAAACGACCAATGAGAT	0.592000																								0							SO:0001583	missense			ENST00000288828.4	1	1	hg19	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	A	1.403	-0.577680	0.03854	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.41400	1.31;1.31;1.33;1.33;1.0	5.77	1.33	0.21861	.	0.520851	0.21249	N	0.077680	T	0.15998	0.0385	N	0.04508	-0.205	0.21290	N	0.99974	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.28586	-1.0039	10	0.09843	T	0.71	-20.5692	7.0495	0.25065	0.5558:0.0:0.4442:0.0	.	376;364;364;382;382	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	A	382;364;382;364;323;376	ENSP00000288828:T382A;ENSP00000384945:T364A;ENSP00000385297:T382A;ENSP00000371821:T364A;ENSP00000429654:T323A	ENSP00000288828:T382A	T	+	1	0	WIPI2	5235787	0.921000	0.31238	0.110000	0.21437	0.095000	0.18619	1.468000	0.35332	-0.074000	0.12820	-0.232000	0.12228	ACC		TCGA-IB-7651-01A-11D-2154-08	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	1	0	1	21	98	0	25	1	1	67	310	0	25	2		0	0	0	0	0	2	1	9.999983e-01	21	94	0	25	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999919	0.990000	1	9.900000e-01	1
SLC29A4	222962	broad.mit.edu	37	7	5330411	5330411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5330411C>T	ENST00000396872.3	+	3	379	c.218C>T	c.(217-219)gCg>gTg	p.A73V	SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4			20		Ovarian(82;0.0175)		Metformin(DB00331)	ATCTACTTTGCGATGCTGCTG	0.592000																								0							SO:0001583	missense			ENST00000396872.3	0	1	hg19	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837993	0.91117	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.09	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.48175	-0.9058	10	0.39692	T	0.17	-21.0558	14.5557	0.68100	0.0:1.0:0.0:0.0	.	73;73	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	V	73	ENSP00000406803:A73V;ENSP00000380081:A73V;ENSP00000413271:A73V;ENSP00000297195:A73V;ENSP00000385845:A73V	ENSP00000297195:A73V	A	+	2	0	SLC29A4	5296937	1.000000	0.71417	0.945000	0.38365	0.936000	0.57629	7.015000	0.76387	1.834000	0.53371	0.556000	0.70494	GCG		TCGA-IB-7651-01A-11D-2154-08	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	0	0	0	7	323	0	65	0	2.981415e-02	0	11	0	65	2		0	0	0	0	0	2	1	9.786726e-01	7	314	0	61	2								-3.427970	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.270000	0.110000	1.000000	0.250000	0.321189	0.270000	0	1.800000e-01	4.100000e-01
SLC29A4	222962	broad.mit.edu	37	7	5339001	5339001	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5339001C>T	ENST00000396872.3	+	9	1313	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4			20		Ovarian(82;0.0175)		Metformin(DB00331)	GCATCCTGGGCGAGTGGCTGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000396872.3	1	1	hg19	CCDS5340.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	1	0	0	22	214	0	43	0	5.515122e-01	0	19	0	43	2		0	0	0	0	0	2	1	9.999982e-01	18	205	0	43	2								-20.000000	1	1	121398	2	29	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.720000	1.000000	1.000000	0.964211	0.990000	1	9.000000e-01	1
SLC29A4	222962	broad.mit.edu	37	7	5340232	5340232	+	Silent	SNP	C	C	T	rs143356600	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5340232C>T	ENST00000396872.3	+	10	1550	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4			20		Ovarian(82;0.0175)		Metformin(DB00331)	ACGGCTACTTCGGCAGCGTGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000396872.3	1	1	hg19	CCDS5340.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	1	0	0	149	597	0	137	0	8.307362e-01	0	15	0	137	2		0	0	0	0	0	2	1	1	143	579	0	133	2								-20.000000	1	1	121402	8	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNRC18	84629	broad.mit.edu	37	7	5352415	5352415	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5352415C>A	ENST00000430969.1	-	27	8455	c.8107G>T	c.(8107-8109)Gcc>Tcc	p.A2703S	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2703S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18			11		Ovarian(82;0.142)			TGCTTGGTGGCCTTGGTGGGG	0.741000																								0							SO:0001583	missense			ENST00000430969.1	0	1	hg19	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	4.540|4.540	0.100286|0.100286	0.08731|0.08731	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.05996|.	3.36;3.36|.	4.54|4.54	2.4|2.4	0.29515|0.29515	.|.	.|0.426630	.|0.17361	.|N	.|0.177035	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.11421|0.11421	-1.0588|-1.0588	9|6	0.07644|.	T|.	0.81|.	.|.	7.7328|7.7328	0.28796|0.28796	0.1402:0.56:0.2999:0.0|0.1402:0.56:0.2999:0.0	.|.	2703|.	O15417|.	TNC18_HUMAN|.	S|S	2703|1215	ENSP00000382452:A2703S;ENSP00000395538:A2703S|.	ENSP00000382452:A2703S|.	A|R	-|-	1|3	0|2	TNRC18|TNRC18	5318941|5318941	0.019000|0.019000	0.18553|0.18553	0.491000|0.491000	0.27477|0.27477	0.111000|0.111000	0.19643|0.19643	0.547000|0.547000	0.23299|0.23299	2.022000|2.022000	0.59522|0.59522	0.484000|0.484000	0.47621|0.47621	GCC|AGG		TCGA-IB-7651-01A-11D-2154-08	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	12	100	0	9	1	1.064631e-01	3	2	0	9	2		0	0	0	0	0	2	1	9.989500e-01	11	94	0	10	2								-19.221690	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.710000	1.000000	1.000000	0.972951	0.990000	1	9.600000e-01	1
TNRC18	84629	broad.mit.edu	37	7	5401540	5401540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5401540C>T	ENST00000430969.1	-	13	4868	c.4520G>A	c.(4519-4521)cGc>cAc	p.R1507H	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1507H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18			11		Ovarian(82;0.142)			GGAGTCCCGGCGGCGCTGCAG	0.726000																								0							SO:0001583	missense			ENST00000430969.1	0	1	hg19	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736967	0.89482	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.28069	2.05;2.04;1.63	5.41	5.41	0.78517	.	0.181348	0.27782	N	0.017880	T	0.59280	0.2182	M	0.77820	2.39	0.50632	D	0.999887	D	0.89917	1.0	D	0.74023	0.982	T	0.63075	-0.6718	10	0.72032	D	0.01	.	19.1717	0.93580	0.0:1.0:0.0:0.0	.	1507	O15417	TNC18_HUMAN	H	1507;1507;562;40	ENSP00000382452:R1507H;ENSP00000395538:R1507H;ENSP00000395990:R40H	ENSP00000382452:R1507H	R	-	2	0	TNRC18	5368066	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	2.896000	0.48656	2.541000	0.85698	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	6	38	0	9	1	9.997664e-01	19	120	0	9	2		0	0	0	0	0	2	1	9.662884e-01	6	37	0	9	2								-13.059600	1	1	119114	3	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.670000	1.000000	1.000000	0.974627	0.990000	1	9.900000e-01	1
TNRC18	84629	broad.mit.edu	37	7	5430201	5430201	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5430201C>T	ENST00000430969.1	-	4	750	c.402G>A	c.(400-402)gaG>gaA	p.E134E	TNRC18_ENST00000399434.2_Silent_p.E60E|TNRC18_ENST00000399537.4_Silent_p.E134E	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18			11		Ovarian(82;0.142)			TGCTGGGGGGCTCCAGGTGGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000430969.1	1	1	hg19	CCDS47534.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	20	110	0	28	1	9.998002e-01	17	64	0	28	2		0	0	0	0	0	2	1	9.999963e-01	20	106	0	28	2								-20.000000	1	1	120760	4	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999562	0.990000	1	9.900000e-01	1
VSTM2A	222008	broad.mit.edu	37	7	54612463	54612463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54612463C>T	ENST00000407838.3	+	2	634	c.228C>T	c.(226-228)gcC>gcT	p.A76A	VSTM2A_ENST00000402613.3_Silent_p.A76A|VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000302287.3_Silent_p.A76A	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A			16			STAD - Stomach adenocarcinoma(5;0.0525)		ATCCCGGGGCCGAGGGGGCCG	0.736000																								0							SO:0001819	synonymous_variant			ENST00000407838.3	1	1	hg19	CCDS5512.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	1	0	0	50	90	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	1	50	90	0	15	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC61G	23480	broad.mit.edu	37	7	54825203	54825203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54825203T>G	ENST00000415949.1	-	3	445	c.79A>C	c.(79-81)Aaa>Caa	p.K27Q	SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q|SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|RP11-745C15.2_ENST00000439413.2_RNA			P60059	SC61G_HUMAN	Sec61 gamma subunit			6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)		CTATCAGGTTTAGTGCATCTT	0.353000																								0							SO:0001583	missense			ENST00000415949.1	1	1	hg19	CCDS5513.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428133	0.83667	.	.	ENSG00000132432	ENST00000395535;ENST00000352861;ENST00000415949;ENST00000450622	.	.	.	5.51	5.51	0.81932	Protein translocase SecE domain (2);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	.	.	.	0.80722	D	1	B	0.32188	0.359	B	0.44133	0.442	T	0.70894	-0.4748	8	0.87932	D	0	-5.6354	13.5768	0.61879	0.0:0.0:0.0:1.0	.	27	P60059	SC61G_HUMAN	Q	27	.	ENSP00000341538:K27Q	K	-	1	0	SEC61G	54792697	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.448000	0.80631	2.093000	0.63338	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	SEC61G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251384.2	1	0	1	58	251	0	88	1	1	267	740	0	88	2		0	0	0	0	0	2	1	1	57	246	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXL18	80028	broad.mit.edu	37	7	5521531	5521531	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5521531C>T	ENST00000382368.3	-	5	2155	c.2032G>A	c.(2032-2034)Gtc>Atc	p.V678I	AC092171.4_ENST00000444210.2_lincRNA	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18		FBXL18/RNF216(2)	21		Ovarian(82;0.0607)			GGGAAGATGACGACGTTTAAC	0.632000																								0							SO:0001583	missense			ENST00000382368.3	1	1	hg19	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.93|19.93	3.918844|3.918844	0.73098|0.73098	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000297035|ENST00000382368	.|T	.|0.52295	.|0.67	4.83|4.83	3.95|3.95	0.45737|0.45737	.|.	.|.	.|.	.|.	.|.	T|T	0.41743|0.41743	0.1172|0.1172	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.46110	.|0.504	T|T	0.19811|0.19811	-1.0294|-1.0294	5|8	0.87932|0.32370	D|T	0|0.25	.|.	8.5691|8.5691	0.33558|0.33558	0.0:0.7655:0.1521:0.0824|0.0:0.7655:0.1521:0.0824	.|.	.|678	.|Q96ME1-4	.|.	H|I	237|678	.|ENSP00000371805:V678I	ENSP00000297035:R237H|ENSP00000371805:V678I	R|V	-|-	2|1	0|0	FBXL18|FBXL18	5488057|5488057	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.845000|0.845000	0.48019|0.48019	3.693000|3.693000	0.54735|0.54735	1.167000|1.167000	0.42706|0.42706	-0.294000|-0.294000	0.09567|0.09567	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	1	0	1	109	556	0	109	1	6.951056e-01	6	8	0	109	2		0	0	0	0	0	2	1	1	107	546	0	106	2								-20.000000	1	1	120990	2	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGFR	1956	broad.mit.edu	37	7	55240761	55240761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240761C>T	ENST00000275493.2	+	17	2182	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	p.R669*(1)		14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)	Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCTCTTCATGCGAAGGCGCCA	0.667000		8	A, O, Mis		glioma, NSCLC	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)		E, O	1	Substitution - Nonsense(1)						SO:0001587	stop_gained	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	ENST00000275493.2	0	1	hg19	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	41	8.579219	0.98870	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	.	.	.	5.96	1.75	0.24633	.	0.048957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2219	0.43203	0.4977:0.3801:0.1222:0.0	.	.	.	.	X	624;539;669;616;463	.	ENSP00000275493:R669X	R	+	1	2	EGFR	55208255	1.000000	0.71417	0.677000	0.29947	0.924000	0.55760	1.702000	0.37836	0.348000	0.23949	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	1	0	1	73	357	0	88	0	9.957791e-01	0	43	0	88	2		0	0	0	0	0	2	1	1	73	349	0	85	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGFR	1956	broad.mit.edu	37	7	55240803	55240803	+	Missense_Mutation	SNP	C	C	A	rs55669340	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240803C>A	ENST00000275493.2	+	17	2224	c.2047C>A	c.(2047-2049)Ctg>Atg	p.L683M	EGFR_ENST00000455089.1_Missense_Mutation_p.L638M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L630M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor			14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)	Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCGGAGGCTGCTGCAGGAGAG	0.672000		8	A, O, Mis		glioma, NSCLC	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)		E, O	0							SO:0001583	missense	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	ENST00000275493.2	1	0	hg19	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300320	0.81136	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.76578	-1.02;-1.03;-1.03	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.69823	2.125	0.50813	D	0.999895	D;D	0.71674	0.998;0.998	D;D	0.72625	0.943;0.978	D	0.87498	0.2431	10	0.59425	D	0.04	.	18.9566	0.92661	0.0:1.0:0.0:0.0	.	638;683	Q504U8;P00533	.;EGFR_HUMAN	M	638;553;683;630	ENSP00000415559:L638M;ENSP00000275493:L683M;ENSP00000395243:L630M	ENSP00000275493:L683M	L	+	1	2	EGFR	55208297	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.695000	0.68279	2.813000	0.96785	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	1	0	1	57	293	0	55	1	9.932941e-01	16	26	0	55	2		0	0	0	0	0	2	1	1	57	291	0	55	2								-2.836734	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGFR	1956	broad.mit.edu	37	7	55249101	55249101	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55249101A>G	ENST00000275493.2	+	20	2576	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.D755G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor			14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)	Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCTCCTGGACTATGTCCGG	0.602000		8	A, O, Mis		glioma, NSCLC	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)		E, O	0							SO:0001583	missense	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	ENST00000275493.2	1	1	hg19	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740451	0.89573	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.65364	-0.15;-0.15;-0.15	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	L	0.49571	1.57	0.80722	D	1	P;D	0.89917	0.596;1.0	P;D	0.83275	0.464;0.996	T	0.77101	-0.2712	10	0.87932	D	0	.	15.1766	0.72916	1.0:0.0:0.0:0.0	.	755;800	Q504U8;P00533	.;EGFR_HUMAN	G	755;670;800;747	ENSP00000415559:D755G;ENSP00000275493:D800G;ENSP00000395243:D747G	ENSP00000275493:D800G	D	+	2	0	EGFR	55216595	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.303000	0.96183	2.255000	0.74692	0.533000	0.62120	GAC		TCGA-IB-7651-01A-11D-2154-08	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	1	0	1	77	312	0	82	0	9.998787e-01	0	56	0	82	2		0	0	0	0	0	2	1	1	75	309	0	82	2								-3.301598	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXL18	80028	broad.mit.edu	37	7	5540606	5540606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5540606C>T	ENST00000382368.3	-	3	1417	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18		FBXL18/RNF216(2)	21		Ovarian(82;0.0607)			gcgcggtcggcgcgcggcgcg	0.741000																								0							SO:0001583	missense			ENST00000382368.3	0	1	hg19	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139483	0.01728	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.42900	0.98;0.96	5.36	2.33	0.28932	.	0.664063	0.15998	N	0.234441	T	0.15305	0.0369	N	0.04508	-0.205	0.09310	N	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.003;0.001	T	0.19582	-1.0301	10	0.13470	T	0.59	.	3.1383	0.06447	0.1271:0.5114:0.1824:0.1791	.	432;432	F5H4Z4;Q96ME1-4	.;.	T	432	ENSP00000371805:A432T;ENSP00000444797:A432T	ENSP00000311990:A432T	A	-	1	0	FBXL18	5507132	.	.	0.030000	0.17652	0.010000	0.07245	.	.	0.631000	0.30412	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	1	0	0	13	117	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.995142e-01	13	112	0	10	2								-19.852370	1	1	116028	1	21	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.680000	1.000000	1.000000	0.963667	0.990000	1	9.100000e-01	1
ACTB	60	broad.mit.edu	37	7	5568999	5568999	+	Silent	SNP	G	G	T	rs142116324	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5568999G>T	ENST00000331789.5	-	3	347	c.156C>A	c.(154-156)tcC>tcA	p.S52S	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta			8		Ovarian(82;0.0606)			CGCCCACATAGGAATCCTTCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000331789.5	1	1	hg19	CCDS5341.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	1	0	1	81	537	0	132	1	1	1881	5821	0	132	2		0	0	0	0	0	2	1	1	79	527	0	132	2								-3.075757	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GBAS	2631	broad.mit.edu	37	7	56051523	56051523	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56051523G>A	ENST00000322090.3	+	6	576	c.547G>A	c.(547-549)Gga>Aga	p.G183R	GBAS_ENST00000446778.1_Missense_Mutation_p.G144R	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence			5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		GCCAAGATCCGGACCTAATAT	0.398000																								0							SO:0001583	missense			ENST00000322090.3	1	1	hg19	CCDS5521.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743963	0.89663	.	.	ENSG00000146729	ENST00000446692;ENST00000322090;ENST00000446778;ENST00000437587	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.81	4.81	0.61882	Dimeric alpha-beta barrel (1);	0.254452	0.45867	D	0.000337	T	0.68714	0.3031	M	0.87456	2.885	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.61940	0.896;0.657	T	0.68671	-0.5347	10	0.20046	T	0.44	-16.0315	17.0441	0.86497	0.0:0.0:1.0:0.0	.	144;183	C9IYJ3;O75323	.;NIPS2_HUMAN	R	43;183;144;43	ENSP00000406336:G43R;ENSP00000313050:G183R;ENSP00000406855:G144R;ENSP00000401185:G43R	ENSP00000313050:G183R	G	+	1	0	GBAS	56019017	1.000000	0.71417	0.973000	0.42090	0.682000	0.39822	9.365000	0.97139	2.497000	0.84241	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	0	0	1	59	351	0	58	1	1	22	160	0	58	2		0	0	0	0	0	2	1	1	58	350	0	58	2								-2.691222	1	1	121412	1	28	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CCT6A	908	broad.mit.edu	37	7	56125777	56125777	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56125777T>C	ENST00000275603.4	+	6	925	c.706T>C	c.(706-708)Tca>Cca	p.S236P	SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P|SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)			15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		TTGTAACGTGTCATTAGAGTA	0.408000																								0							SO:0001583	missense			ENST00000275603.4	1	1	hg19	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344422	0.61073	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78707	-1.2;-1.2;-1.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	L	0.45285	1.41	0.80722	D	1	D;B;B	0.58620	0.983;0.177;0.244	P;B;B	0.59948	0.866;0.174;0.215	T	0.77970	-0.2387	10	0.23891	T	0.37	-12.187	14.7035	0.69171	0.0:0.0:0.0:1.0	.	205;191;236	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	P	236;191;205;94	ENSP00000275603:S236P;ENSP00000352019:S191P;ENSP00000438488:S205P	ENSP00000275603:S236P	S	+	1	0	CCT6A	56093271	1.000000	0.71417	0.991000	0.47740	0.029000	0.11900	7.291000	0.78721	2.151000	0.67156	0.397000	0.26171	TCA		TCGA-IB-7651-01A-11D-2154-08	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	1	0	1	33	156	0	58	1	1	197	391	0	58	2		0	0	0	0	0	2	1	1	31	152	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PHKG1	5260	broad.mit.edu	37	7	56151035	56151035	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56151035G>A	ENST00000297373.2	-	6	677	c.483C>T	c.(481-483)aaC>aaT	p.N161N	PHKG1_ENST00000452681.2_Silent_p.N193N|PHKG1_ENST00000537360.1_Silent_p.N107N|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)			7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		TGATGTTCATGTTGTCATCCA	0.557000													Melanoma(184;580 2064 5329 24177 35303)											0							SO:0001819	synonymous_variant			ENST00000297373.2	1	1	hg19	CCDS5525.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	1	0	1	40	221	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	1	39	219	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
PHKG1	5260	broad.mit.edu	37	7	56155329	56155329	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155329A>G	ENST00000297373.2	-	3	418	c.224T>C	c.(223-225)gTg>gCg	p.V75A	PHKG1_ENST00000452681.2_Missense_Mutation_p.V75A|PHKG1_ENST00000537360.1_Silent_p.G39G|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)			7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		CAGGATGTCCACCTCCTTCAG	0.647000													Melanoma(184;580 2064 5329 24177 35303)											0							SO:0001583	missense			ENST00000297373.2	1	1	hg19	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233249	0.58886	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.66280	-0.2;1.02	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095040	0.43747	D	0.000535	T	0.68100	0.2964	L	0.53561	1.675	0.80722	D	1	B;P;P	0.41008	0.064;0.735;0.613	B;B;P	0.51079	0.338;0.287;0.658	T	0.64554	-0.6380	10	0.27082	T	0.32	-36.2881	14.9413	0.70994	1.0:0.0:0.0:0.0	.	75;75;75	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	A	75	ENSP00000445440:V75A;ENSP00000297373:V75A	ENSP00000297373:V75A	V	-	2	0	PHKG1	56122823	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.273000	0.95719	2.189000	0.69895	0.460000	0.39030	GTG		TCGA-IB-7651-01A-11D-2154-08	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	1	0	1	32	139	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	32	139	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PHKG1	5260	broad.mit.edu	37	7	56155447	56155447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155447G>A	ENST00000297373.2	-	3	300	c.106C>T	c.(106-108)Cga>Tga	p.R36*	PHKG1_ENST00000452681.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)			7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		TGGATGCATCGCCTGACCACA	0.657000													Melanoma(184;580 2064 5329 24177 35303)											0							SO:0001587	stop_gained			ENST00000297373.2	0	1	hg19	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	G	38	6.852304	0.97885	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	.	.	.	5.42	4.53	0.55603	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.7593	15.1354	0.72562	0.0:0.0:0.858:0.142	.	.	.	.	X	36	.	ENSP00000297373:R36X	R	-	1	2	PHKG1	56122941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.268000	0.51585	1.404000	0.46819	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	1	0	1	55	218	0	75	1	2.693533e-01	2	3	0	75	2		0	0	0	0	0	2	1	1	54	216	0	73	2								-3.663666	1	1	121410	2	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF479	90827	broad.mit.edu	37	7	57187947	57187947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57187947C>T	ENST00000331162.4	-	5	1445	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479			84			GBM - Glioblastoma multiforme(1;9.18e-12)		TGCTGAGGAGCGCCTAAAGTC	0.448000																								0							SO:0001583	missense			ENST00000331162.4	1	0	hg19	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	0.139	-1.104087	0.01828	2.61E-4	1.24E-4	ENSG00000185177	ENST00000331162	T	0.36340	1.26	0.946	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16514	0.0397	N	0.21097	0.63	0.09310	N	1	D	0.60575	0.988	B	0.41466	0.358	T	0.17018	-1.0383	9	0.13108	T	0.6	.	2.1819	0.03877	0.2491:0.2114:0.0:0.5395	.	392	Q96JC4	ZN479_HUMAN	H	392	ENSP00000333776:R392H	ENSP00000333776:R392H	R	-	2	0	ZNF479	57191889	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.551000	0.06027	-1.510000	0.01796	-1.496000	0.00964	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	1	0	0	41	173	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	29	112	0	67	2								-20.000000	1	1	120644	5	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF216	54476	broad.mit.edu	37	7	5754711	5754711	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5754711G>T	ENST00000425013.2	-	11	1859	c.1635C>A	c.(1633-1635)gcC>gcA	p.A545A	RNF216_ENST00000389902.3_Silent_p.A602A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216		FBXL18/RNF216(2)	33		Ovarian(82;0.07)			CTGCCTCTTGGGCATATCTGA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000425013.2	1	1	hg19	CCDS34595.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	1	0	0	38	791	0	194	1	9.402609e-01	8	91	0	194	2		0	0	0	0	0	2	1	1	38	775	0	193	2								-3.063635	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.540000	0.390000	1.000000	0.540000	0.577225	0.540000	0	4.600000e-01	6.600000e-01
PMS2	5395	broad.mit.edu	37	7	6017315	6017315	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017315G>A	ENST00000265849.7	-	14	2454	c.2349C>T	c.(2347-2349)gtC>gtT	p.V783V	PMS2_ENST00000406569.3_Missense_Mutation_p.S570L|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000441476.2_Silent_p.V677V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			46		Ovarian(82;0.0694)			TCAGTTCATCGACGTCCTGGG	0.498000			Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000265849.7	1	1	hg19	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608084	0.28623	.	.	ENSG00000122512	ENST00000406569	D	0.85861	-2.04	5.75	-1.52	0.08637	.	.	.	.	.	T	0.77844	0.4191	.	.	.	0.80722	D	1	B	0.26708	0.157	B	0.19391	0.025	T	0.63686	-0.6581	8	0.30078	T	0.28	-7.0862	16.6672	0.85256	0.0:0.0:0.5913:0.4087	.	570	P54278-3	.	L	570	ENSP00000384308:S570L	ENSP00000384308:S570L	S	-	2	0	PMS2	5983841	0.905000	0.30787	0.984000	0.44739	0.615000	0.37417	-0.059000	0.11731	-0.473000	0.06871	-0.442000	0.05670	TCG		TCGA-IB-7651-01A-11D-2154-08	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	0	0	0	70	543	0	102	1	8.432016e-01	4	24	0	102	2	1	9.999995e-01	22	139	0	123	2	1	1	68	512	0	107	2								-19.999960	1	0	121014	3	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999788	0.990000	1	9.900000e-01	1
PMS2	5395	broad.mit.edu	37	7	6026722	6026722	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6026722G>A	ENST00000265849.7	-	11	1779	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.T558T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.T452T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			46		Ovarian(82;0.0694)			ATTTACATCCGGTATCTTCCT	0.448000			Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000265849.7	1	1	hg19	CCDS5343.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	0	0	0	37	1116	0	199	0	3.192818e-01	1	34	0	199	2	1	1	28	1227	1	1134	6	1	1	39	1092	0	199	2								-2.238203	0	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.380000	0.270000	1.000000	0.370000	0.421905	0.380000	0	3.200000e-01	4.700000e-01
PMS2	5395	broad.mit.edu	37	7	6027116	6027116	+	Missense_Mutation	SNP	C	C	T	rs112902065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6027116C>T	ENST00000265849.7	-	11	1385	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R427H|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.R321H	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			46		Ovarian(82;0.0694)			TGTTGTGTGACGAAGAGAAAA	0.478000			Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0							SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000265849.7	0	1	hg19	CCDS5343.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	10.57	1.386024	0.25031	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85955	1.0;1.0;-2.05	5.84	-1.11	0.09840	.	0.746320	0.13341	N	0.395124	T	0.55609	0.1931	N	0.01874	-0.695	0.25367	N	0.988733	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.46345	-0.9198	10	0.27785	T	0.31	-1.5374	12.7236	0.57156	0.0:0.2476:0.0:0.7524	.	427;427;321	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	H	427;380;321;427	ENSP00000265849:R427H;ENSP00000392843:R321H;ENSP00000384308:R427H	ENSP00000265849:R427H	R	-	2	0	PMS2	5993642	0.096000	0.21769	0.045000	0.18777	0.360000	0.29518	0.248000	0.18198	-0.419000	0.07439	-0.827000	0.03088	CGT		TCGA-IB-7651-01A-11D-2154-08	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	1	0	0	40	214	0	38	1	8.430202e-01	4	16	0	38	2	1	9.999996e-01	47	218	3	245	10	1	1	36	197	0	49	2								-20.000000	1	1	121408	6	38	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PMS2	5395	broad.mit.edu	37	7	6035166	6035166	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6035166T>G	ENST00000265849.7	-	8	1007	c.902A>C	c.(901-903)aAg>aCg	p.K301T	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Splice_Site_p.K301T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Splice_Site_p.K195T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			46		Ovarian(82;0.0694)			TTTAAATACCTTTGCTGGGTC	0.388000			Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0							SO:0001630	splice_region_variant	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000265849.7	1	0	hg19	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	19.36	3.813482	0.70912	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.84223	-1.82;-1.82;-1.82	5.72	5.72	0.89469	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.157726	0.56097	D	0.000039	D	0.91129	0.7207	M	0.84082	2.675	0.80722	D	1	P;D;P	0.57899	0.715;0.981;0.88	P;P;P	0.60068	0.47;0.868;0.603	D	0.89580	0.3820	10	0.20519	T	0.43	-21.4466	16.0509	0.80763	0.0:0.0:0.0:1.0	.	301;301;195	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	T	301;254;195;301	ENSP00000265849:K301T;ENSP00000392843:K195T;ENSP00000384308:K301T	ENSP00000265849:K301T	K	-	2	0	PMS2	6001692	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.957000	0.70323	2.188000	0.69820	0.456000	0.33151	AAG		TCGA-IB-7651-01A-11D-2154-08	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	1	0	1	60	266	0	61	1	9.616434e-01	5	21	0	61	2	1	1	145	608	0	732	2	1	1	60	263	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMS2	5395	broad.mit.edu	37	7	6045573	6045573	+	Missense_Mutation	SNP	G	G	A	rs148270248		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6045573G>A	ENST00000265849.7	-	2	218	c.113C>T	c.(112-114)gCg>gTg	p.A38V	Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.A38V|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V|PMS2_ENST00000441476.2_5'Flank	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			46		Ovarian(82;0.0694)			CTCCTTTACCGCAGTGCTTAG	0.433000			Mis, N, F			colorectal, endometrial, ovarian, medulloblastoma, glioma		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					yes	Rec		Hereditary non-polyposis colorectal cancer, Turcot syndrome	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0							SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	ENST00000265849.7	1	1	hg19	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440113	0.96168	3.65E-4	0.0	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.97378	-4.36;-4.36;-4.36	5.67	5.67	0.87782	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	L	0.31207	0.915	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.71656	0.974;0.55;0.966	D	0.95682	0.8733	10	0.22109	T	0.4	.	19.7586	0.96304	0.0:0.0:1.0:0.0	.	38;38;38	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	V	38	ENSP00000265849:A38V;ENSP00000371758:A38V;ENSP00000384308:A38V	ENSP00000265849:A38V	A	-	2	0	PMS2	6012099	1.000000	0.71417	0.935000	0.37517	0.942000	0.58702	9.367000	0.97148	2.663000	0.90544	0.585000	0.79938	GCG		TCGA-IB-7651-01A-11D-2154-08	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	1	0	1	311	1262	0	348	0	9.858616e-01	1	28	0	348	2	1	1	194	841	0	990	2	1	1	297	1230	1	347	16								-20.000000	1	1	116940	3	42	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP42	84132	broad.mit.edu	37	7	6196451	6196451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6196451G>T	ENST00000306177.5	+	16	3866	c.3708G>T	c.(3706-3708)aaG>aaT	p.K1236N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42			35		Ovarian(82;0.0423)			ACAAAAAAAAGAAGAAGAAAA	0.463000																								0							SO:0001583	missense			ENST00000306177.5	1	1	hg19	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749452	0.69533	.	.	ENSG00000106346	ENST00000306177	T	0.37584	1.19	5.77	3.95	0.45737	.	0.000000	0.64402	D	0.000005	T	0.45458	0.1343	L	0.34521	1.04	0.30744	N	0.745851	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.48502	-0.9030	10	0.87932	D	0	.	8.7888	0.34837	0.242:0.0:0.758:0.0	.	1132;1236;1236	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	N	1236	ENSP00000301962:K1236N	ENSP00000301962:K1236N	K	+	3	2	USP42	6162976	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.228000	0.32588	0.783000	0.33636	-0.157000	0.13467	AAG		TCGA-IB-7651-01A-11D-2154-08	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	1	0	1	22	113	0	33	1	9.908900e-01	18	24	0	33	2		0	0	0	0	0	2	1	9.999989e-01	21	108	0	31	2								-4.027115	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999855	0.990000	1	9.900000e-01	1
CYTH3	9265	broad.mit.edu	37	7	6205375	6205375	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6205375T>G	ENST00000350796.3	-	10	1026	c.890A>C	c.(889-891)gAa>gCa	p.E297A	CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3			19					TGTTGTGTATTCAAAGTAATA	0.612000																								0							SO:0001583	missense			ENST00000350796.3	1	1	hg19	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	31	5.068314	0.93950	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.77098	-1.07;-1.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	M	0.75085	2.285	0.80722	D	1	P;B	0.43477	0.808;0.323	P;B	0.53689	0.732;0.183	D	0.86719	0.1941	10	0.72032	D	0.01	.	15.1464	0.72657	0.0:0.0:0.0:1.0	.	212;297	B7Z2V9;O43739-2	.;.	A	297;212	ENSP00000297044:E297A;ENSP00000379967:E212A	ENSP00000297044:E297A	E	-	2	0	CYTH3	6171900	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.945000	0.87732	2.057000	0.61298	0.459000	0.35465	GAA		TCGA-IB-7651-01A-11D-2154-08	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	1	0	1	56	269	0	56	1	1	21	121	0	56	2		0	0	0	0	0	2	1	1	55	266	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKAR1B	5575	broad.mit.edu	37	7	624175	624175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:624175C>T	ENST00000406797.1	-	8	913	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	p.E247K(1)		17		Ovarian(82;0.0779)			AGGAACTCCTCGTACATCTTG	0.567000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000406797.1	1	1	hg19	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963462	0.74016	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;1.63	4.96	4.96	0.65561	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.75620	0.3874	M	0.78801	2.425	0.80722	D	1	B	0.24483	0.104	B	0.12837	0.008	T	0.76124	-0.3074	10	0.66056	D	0.02	-5.8001	17.0165	0.86421	0.0:1.0:0.0:0.0	.	247	P31321	KAP1_HUMAN	K	247;247;247;247;247;12;247	ENSP00000440449:E247K;ENSP00000444487:E247K;ENSP00000385749:E247K;ENSP00000385349:E247K;ENSP00000353415:E247K;ENSP00000402648:E247K	ENSP00000340984:E12K	E	-	1	0	PRKAR1B	590701	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.690000	0.61731	2.296000	0.77279	0.638000	0.83543	GAG		TCGA-IB-7651-01A-11D-2154-08	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1	1	0	1	19	132	0	29	1	9.953450e-01	5	59	0	29	2		0	0	0	0	0	2	1	9.999930e-01	19	130	0	28	2								-3.080343	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.940000	1.000000	1.000000	0.996224	0.990000	1	9.900000e-01	1
ZNF107	51427	broad.mit.edu	37	7	64168445	64168445	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64168445C>A	ENST00000395391.1	+	4	3138	c.1763C>A	c.(1762-1764)gCt>gAt	p.A588D	ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D|ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D			Q9UII5	ZN107_HUMAN	zinc finger protein 107			37		Lung NSC(55;0.00948)|all_lung(88;0.0249)			CATGGAAAAGCTTTTAACCTA	0.338000																								0							SO:0001583	missense			ENST00000395391.1	1	1	hg19	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575081	0.45902	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.17213	2.29;2.29;2.29	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.46741	1.465	0.21822	N	0.999529	D	0.69078	0.997	D	0.75020	0.985	T	0.07462	-1.0771	8	.	.	.	.	5.2825	0.15682	0.0:0.6307:0.3693:0.0	.	588	Q9UII5	ZN107_HUMAN	D	588	ENSP00000343443:A588D;ENSP00000400037:A588D;ENSP00000378789:A588D	.	A	+	2	0	ZNF107	63805880	0.000000	0.05858	0.216000	0.23742	0.459000	0.32528	0.444000	0.21661	0.635000	0.30488	0.313000	0.20887	GCT		TCGA-IB-7651-01A-11D-2154-08	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	1	0	1	56	288	0	61	0	1.934687e-01	0	5	0	61	2		0	0	0	0	0	2	1	1	56	282	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF273	10793	broad.mit.edu	37	7	64389058	64389058	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389058T>G	ENST00000476120.1	+	4	1423	c.1352T>G	c.(1351-1353)aTt>aGt	p.I451S	ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273			16		Lung NSC(55;0.0295)|all_lung(88;0.0691)			CATAAGATAATTCATACTGGA	0.348000													Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)											0							SO:0001583	missense			ENST00000476120.1	1	1	hg19	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883389	0.51908	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.00659	5.94;5.94	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01029	0.0034	N	0.11106	0.095	0.28238	N	0.925795	P	0.35226	0.491	P	0.50934	0.654	T	0.51896	-0.8647	9	0.72032	D	0.01	.	5.7517	0.18150	0.0:0.0:0.0:1.0	.	451	Q14593	ZN273_HUMAN	S	451;386	ENSP00000418719:I451S;ENSP00000324518:I386S	ENSP00000324518:I386S	I	+	2	0	ZNF273	64026493	0.000000	0.05858	0.826000	0.32828	0.824000	0.46624	-0.280000	0.08468	0.175000	0.19841	0.172000	0.16884	ATT		TCGA-IB-7651-01A-11D-2154-08	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1	1	0	1	46	179	0	35	0	1.112148e-01	1	2	0	35	2		0	0	0	0	0	2	1	1	46	176	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF273	10793	broad.mit.edu	37	7	64389265	64389265	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389265G>A	ENST00000476120.1	+	4	1630	c.1559G>A	c.(1558-1560)gGc>gAc	p.G520D	ZNF273_ENST00000319636.5_Missense_Mutation_p.G455D|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273			16		Lung NSC(55;0.0295)|all_lung(88;0.0691)			GAAGAATGTGGCAAAGCTTTT	0.378000													Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)											0							SO:0001583	missense			ENST00000476120.1	1	0	hg19	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733462	0.69189	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.07444	3.19;3.19	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	M	0.64080	1.96	0.42039	D	0.99106	B	0.24483	0.104	B	0.35727	0.209	T	0.05750	-1.0866	9	0.59425	D	0.04	.	7.3527	0.26700	0.0:0.0:1.0:0.0	.	520	Q14593	ZN273_HUMAN	D	520;455	ENSP00000418719:G520D;ENSP00000324518:G455D	ENSP00000324518:G455D	G	+	2	0	ZNF273	64026700	0.994000	0.37717	0.818000	0.32626	0.818000	0.46254	1.598000	0.36740	0.202000	0.20498	0.205000	0.17691	GGC		TCGA-IB-7651-01A-11D-2154-08	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1	1	0	0	35	372	0	81	0	2.225560e-02	0	3	0	81	2		0	0	0	0	0	2	1	1	31	361	0	81	2								-2.458455	0	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.730000	1.000000	1.000000	0.952008	0.990000	1	8.600000e-01	1
ZNF117	51351	broad.mit.edu	37	7	64438880	64438880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64438880C>T	ENST00000282869.6	-	4	2353	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117			22		Lung NSC(55;0.0295)|all_lung(88;0.0691)			GGTTTCTCTCCAGTATGAATT	0.388000																								0							SO:0001583	missense			ENST00000282869.6	1	1	hg19	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.884060	0.51908	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.26223	1.75	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	M	0.66939	2.045	0.41668	D	0.98922	P	0.37398	0.593	B	0.38683	0.279	T	0.10222	-1.0639	9	0.62326	D	0.03	.	7.6354	0.28264	0.0:1.0:0.0:0.0	.	357	Q03924	ZN117_HUMAN	R	357	ENSP00000282869:G357R	ENSP00000282869:G357R	G	-	1	0	ZNF117	64076315	0.029000	0.19370	0.150000	0.22450	0.056000	0.15407	2.078000	0.41567	0.518000	0.28383	0.313000	0.20887	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	1	0	1	73	386	0	107	0	1.845490e-01	0	5	0	107	2		0	0	0	0	0	2	1	1	72	376	0	105	2								-2.696422	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAGLB	221955	broad.mit.edu	37	7	6452623	6452623	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6452623G>A	ENST00000297056.6	-	12	1639	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	DAGLB_ENST00000436575.1_Silent_p.L449L|DAGLB_ENST00000425398.2_Silent_p.L361L|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000428902.2_Missense_Mutation_p.R350C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta			26		Ovarian(82;0.232)			TCCCCAGGACGAGTGACACGA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000297056.6	1	1	hg19	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	4.795	0.147856	0.09134	.	.	ENSG00000164535	ENST00000428902	.	.	.	5.52	-10.3	0.00346	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.54569	-0.8274	5	0.45353	T	0.12	-12.9094	1.8816	0.03229	0.3096:0.1713:0.3495:0.1696	.	.	.	.	C	350	.	ENSP00000416046:R350C	R	-	1	0	DAGLB	6419148	0.010000	0.17322	0.002000	0.10522	0.011000	0.07611	-0.855000	0.04295	-1.904000	0.01092	-2.120000	0.00349	CGT		TCGA-IB-7651-01A-11D-2154-08	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	0	0	0	21	116	0	37	1	9.934981e-01	11	37	0	37	2		0	0	0	0	0	2	1	9.999985e-01	21	115	0	37	2								-20.000000	1	1	121408	4	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999638	0.990000	1	9.900000e-01	1
DAGLB	221955	broad.mit.edu	37	7	6474563	6474563	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6474563G>T	ENST00000297056.6	-	4	677	c.508C>A	c.(508-510)Ccc>Acc	p.P170T	DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta			26		Ovarian(82;0.232)			AGGTGGCTGGGGCCGGCAGAG	0.498000																								0							SO:0001583	missense			ENST00000297056.6	1	1	hg19	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	5.243	0.230268	0.09969	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	T;T	0.41758	0.99;1.0	5.26	4.3	0.51218	.	0.299368	0.33895	N	0.004445	T	0.26011	0.0634	L	0.33485	1.01	0.18873	N	0.999985	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12430	T	0.62	.	6.8558	0.24040	0.0795:0.1094:0.6567:0.1545	.	170	Q8NCG7	DGLB_HUMAN	T	170;129;170;43	ENSP00000297056:P170T;ENSP00000404785:P129T	ENSP00000297056:P170T	P	-	1	0	DAGLB	6441088	0.299000	0.24426	0.079000	0.20413	0.977000	0.68977	0.768000	0.26590	2.443000	0.82685	0.591000	0.81541	CCC		TCGA-IB-7651-01A-11D-2154-08	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	1	0	1	119	531	0	128	1	9.984777e-01	13	32	0	128	2		0	0	0	0	0	2	1	1	115	520	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DAGLB	221955	broad.mit.edu	37	7	6485682	6485682	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6485682G>T	ENST00000297056.6	-	2	318	c.149C>A	c.(148-150)gCt>gAt	p.A50D	DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000479922.2_5'UTR|KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000428902.2_De_novo_Start_OutOfFrame	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta			26		Ovarian(82;0.232)			GGCTCCACCAGCACAGTCCAG	0.473000																								0							SO:0001583	missense			ENST00000297056.6	1	0	hg19	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	7.032	0.560885	0.13498	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.42900	1.0;0.96;0.99	4.43	3.52	0.40303	.	0.773939	0.12173	N	0.492814	T	0.29389	0.0732	L	0.42245	1.32	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.21245	-1.0251	10	0.11794	T	0.64	-7.8396	5.8177	0.18506	0.1701:0.0:0.666:0.1639	.	50;50	B4DQU0;Q8NCG7	.;DGLB_HUMAN	D	50;50;9;50;50	ENSP00000297056:A50D;ENSP00000391171:A50D;ENSP00000404785:A9D	ENSP00000297056:A50D	A	-	2	0	DAGLB	6452207	0.109000	0.22037	0.351000	0.25721	0.398000	0.30690	1.387000	0.34430	2.191000	0.70037	0.485000	0.47835	GCT		TCGA-IB-7651-01A-11D-2154-08	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	1	0	1	92	315	0	86	1	9.999999e-01	15	66	0	86	2		0	0	0	0	0	2	1	1	87	310	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDELR2	11014	broad.mit.edu	37	7	6523680	6523680	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6523680A>C	ENST00000258739.4	-	1	193	c.9T>G	c.(7-9)atT>atG	p.I3M	DAGLB_ENST00000436575.1_De_novo_Start_OutOfFrame|FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N|KDELR2_ENST00000463747.1_5'UTR|KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2			10		Ovarian(82;0.0776)			TCAGCCGGAAAATGTTCATgg	0.726000																								0							SO:0001583	missense			ENST00000258739.4	1	0	hg19	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002241	0.74932	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	T	0.49139	0.79	5.12	3.28	0.37604	.	0.048586	0.85682	D	0.000000	T	0.73094	0.3543	H	0.95982	3.75	0.58432	D	0.999999	D;B	0.53619	0.961;0.268	P;B	0.60473	0.875;0.318	T	0.77078	-0.2721	10	0.72032	D	0.01	-16.5231	9.7979	0.40746	0.074:0.0:0.7871:0.1389	.	3;3	P33947-2;P33947	.;ERD22_HUMAN	M	3	ENSP00000258739:I3M	ENSP00000258739:I3M	I	-	3	3	KDELR2	6490205	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.576000	0.23744	0.531000	0.28639	-0.253000	0.11424	ATT		TCGA-IB-7651-01A-11D-2154-08	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2	1	0	0	15	64	0	14	1	1	84	267	0	14	2		0	0	0	0	0	2	1	9.999111e-01	15	62	0	14	2								-20.000000	1	1	119300	1	23	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999699	0.990000	1	9.900000e-01	1
GUSB	2990	broad.mit.edu	37	7	65444521	65444521	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65444521T>C	ENST00000304895.4	-	4	719	c.589A>G	c.(589-591)Aag>Gag	p.K197E	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.K197E|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta			20					AAGTAACCCTTGGGATACCTA	0.547000																								0							SO:0001583	missense			ENST00000304895.4	0	1	hg19	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846587	0.51164	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.94758	-3.51;-3.51	5.27	5.27	0.74061	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.343573	0.36034	N	0.002824	D	0.89213	0.6651	N	0.25332	0.735	0.33520	D	0.592243	B	0.14438	0.01	B	0.12156	0.007	D	0.86877	0.2039	10	0.14656	T	0.56	.	14.4435	0.67333	0.0:0.0:0.0:1.0	.	197	P08236	BGLR_HUMAN	E	197	ENSP00000302728:K197E;ENSP00000340734:K197E	ENSP00000302728:K197E	K	-	1	0	GUSB	65081956	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	2.694000	0.47035	1.995000	0.58328	0.454000	0.30748	AAG		TCGA-IB-7651-01A-11D-2154-08	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	0	0	0	11	406	0	59	1	9.986393e-01	9	421	0	59	2		0	0	0	0	0	2	1	9.981718e-01	11	397	0	58	2								-10.616340	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.320000	0.170000	1.000000	0.310000	0.372184	0.320000	0	2.300000e-01	4.600000e-01
ASL	435	broad.mit.edu	37	7	65557861	65557861	+	Missense_Mutation	SNP	C	C	T	rs144591360	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65557861C>T	ENST00000304874.9	+	17	1459	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ASL_ENST00000395332.3_Missense_Mutation_p.R453C|ASL_ENST00000380839.4_Missense_Mutation_p.R427C|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R433C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase			18				L-Arginine(DB00125)	CTGGCAGATCCGCCAGGTGCG	0.657000																								0							SO:0001583	missense			ENST00000304874.9	0	1	hg19	CCDS5531.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	11.57	1.677791	0.29783	2.27E-4	0.0	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51	5.53	-8.89	0.00785	L-Aspartase-like (1);	0.713318	0.14248	N	0.331614	D	0.96670	0.8913	M	0.78049	2.395	0.25305	N	0.989249	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	D	0.87673	0.2542	10	0.72032	D	0.01	.	4.0702	0.09879	0.3506:0.2577:0.3189:0.0728	.	427;433;453	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	C	453;427;453;433	ENSP00000307188:R453C;ENSP00000370219:R427C;ENSP00000378741:R453C;ENSP00000378740:R433C	ENSP00000307188:R453C	R	+	1	0	ASL	65195296	0.002000	0.14202	0.009000	0.14445	0.611000	0.37282	-0.279000	0.08479	-1.686000	0.01439	-1.332000	0.01269	CGC		TCGA-IB-7651-01A-11D-2154-08	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	0	0	0	9	315	0	40	1	8.076796e-01	3	106	0	40	2		0	0	0	0	0	2	1	9.942251e-01	9	314	0	40	2								-3.630276	1	1	121262	21	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.340000	0.160000	1.000000	0.320000	0.393563	0.340000	0	2.400000e-01	5.000000e-01
TPST1	8460	broad.mit.edu	37	7	65706099	65706099	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65706099T>C	ENST00000304842.5	+	2	1112	c.687T>C	c.(685-687)gtT>gtC	p.V229V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1			11					GTATGGAGGTTGGTTATAAAA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000304842.5	1	1	hg19	CCDS5533.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	0	0	0	10	284	0	44	1	7.251523e-01	3	70	0	44	2		0	0	0	0	0	2	1	9.968552e-01	10	281	0	44	2								-11.748080	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.420000	0.210000	1.000000	0.390000	0.464378	0.420000	0	3.000000e-01	5.900000e-01
RABGEF1	27342	broad.mit.edu	37	7	66270342	66270342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66270342C>T	ENST00000284957.5	+	8	1113	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	KCTD7_ENST00000380828.2_Nonsense_Mutation_p.R386*|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1			27					CAATCCAAGCCGACTGATGAC	0.498000																								0							SO:0001587	stop_gained			ENST00000284957.5	0	0	hg19	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971006	0.97971	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4757	12.27	0.54700	0.2678:0.7322:0.0:0.0	.	.	.	.	X	430;386;346;346;262;346;346;359;360	.	ENSP00000370207:R430X	R	+	1	2	RABGEF1;KCTD7	65907777	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.726000	0.38085	2.643000	0.89663	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	1	0	1	42	391	0	101	1	9.999691e-01	10	135	0	101	2		0	0	0	0	0	2	1	1	41	378	0	100	2								-2.966611	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.840000	1.000000	1.000000	0.986991	0.990000	1	9.900000e-01	1
RABGEF1	27342	broad.mit.edu	37	7	66274251	66274251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66274251C>T	ENST00000284957.5	+	9	1533	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	KCTD7_ENST00000380828.2_Missense_Mutation_p.P526S|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|GTF2IRD1P1_ENST00000457166.1_RNA			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1			27					ACCACTGCAACCTCAAGTTTA	0.398000																								0							SO:0001583	missense			ENST00000284957.5	1	1	hg19	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955184	0.92726	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.69561	-0.41;-0.09;-0.09;-0.09;-0.09;-0.2;-0.21	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.987	T	0.81464	-0.0921	10	0.72032	D	0.01	-21.9137	19.2161	0.93778	0.0:1.0:0.0:0.0	.	500;320;703	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	S	570;526;486;486;402;486;486;499;500	ENSP00000370208:P526S;ENSP00000421124:P486S;ENSP00000398177:P486S;ENSP00000284957:P486S;ENSP00000415815:P486S;ENSP00000403429:P499S;ENSP00000390480:P500S	ENSP00000370207:P570S	P	+	1	0	RABGEF1;KCTD7	65911686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.288000	0.78691	2.778000	0.95560	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	0	0	0	55	296	0	76	1	9.999999e-01	40	89	0	76	2		0	0	0	0	0	2	1	1	55	293	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZDHHC4	55146	broad.mit.edu	37	7	6628372	6628372	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6628372A>G	ENST00000396706.2	+	8	1309	c.866A>G	c.(865-867)gAg>gGg	p.E289G	ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G|C7orf26_ENST00000359073.5_5'Flank|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4			19		Ovarian(82;0.232)			ACTACTAACGAGTGGTACAGA	0.582000																								0							SO:0001583	missense			ENST00000396706.2	1	1	hg19	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176650	0.78564	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83001	-0.0177	10	0.87932	D	0	-23.2176	12.751	0.57308	1.0:0.0:0.0:0.0	.	289	Q9NPG8	ZDHC4_HUMAN	G	289	ENSP00000385027:E289G;ENSP00000379941:E289G;ENSP00000379935:E289G;ENSP00000337475:E289G;ENSP00000379937:E289G;ENSP00000379934:E289G	ENSP00000337475:E289G	E	+	2	0	ZDHHC4	6594897	1.000000	0.71417	0.991000	0.47740	0.600000	0.36913	9.011000	0.93618	1.954000	0.56735	0.533000	0.62120	GAG		TCGA-IB-7651-01A-11D-2154-08	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	1	0	1	35	617	0	127	1	9.999874e-01	29	268	0	127	2		0	0	0	0	0	2	1	1	34	597	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.640000	0.450000	1.000000	0.630000	0.666385	0.640000	0	5.400000e-01	7.800000e-01
TYW1	55253	broad.mit.edu	37	7	66489989	66489989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66489989G>A	ENST00000359626.5	+	7	1128	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)			46		Lung NSC(55;0.0846)|all_lung(88;0.183)			CAAAATTATGGATCATGTGAA	0.408000																								0							SO:0001583	missense			ENST00000359626.5	1	1	hg19	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033688	0.02029	.	.	ENSG00000198874	ENST00000359626	T	0.16457	2.34	4.66	0.307	0.15811	.	0.696409	0.12879	N	0.431594	T	0.05640	0.0148	N	0.02916	-0.46	0.22541	N	0.99901	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	10	0.09590	T	0.72	.	7.7957	0.29146	0.5755:0.0:0.4245:0.0	.	322	Q9NV66	TYW1_HUMAN	N	322	ENSP00000352645:D322N	ENSP00000352645:D322N	D	+	1	0	TYW1	66127424	0.798000	0.28890	0.135000	0.22099	0.494000	0.33585	1.228000	0.32588	-0.153000	0.11137	0.313000	0.20887	GAT		TCGA-IB-7651-01A-11D-2154-08	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	1	0	1	88	371	0	84	1	9.998398e-01	12	44	0	84	2		0	0	0	0	0	2	1	1	83	356	0	85	2								-3.502727	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TYW1	55253	broad.mit.edu	37	7	66514984	66514984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66514984G>A	ENST00000359626.5	+	8	1197	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)			46		Lung NSC(55;0.0846)|all_lung(88;0.183)			CAGGAACATGGGGAGGAATGA	0.373000																								0							SO:0001583	missense			ENST00000359626.5	0	1	hg19	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190598	0.06299	.	.	ENSG00000198874	ENST00000359626	T	0.17691	2.26	3.92	2.99	0.34606	.	0.653207	0.13336	U	0.395557	T	0.14960	0.0361	L	0.39898	1.24	0.30899	N	0.729503	B	0.25563	0.129	B	0.30029	0.11	T	0.18304	-1.0341	10	0.16420	T	0.52	.	11.1751	0.48595	0.0:0.1887:0.8113:0.0	.	345	Q9NV66	TYW1_HUMAN	R	345	ENSP00000352645:G345R	ENSP00000352645:G345R	G	+	1	0	TYW1	66152419	0.127000	0.22367	0.224000	0.23877	0.076000	0.17211	1.244000	0.32778	0.931000	0.37242	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	1	0	1	41	228	0	47	1	9.661555e-01	9	24	0	47	2		0	0	0	0	0	2	1	1	35	195	0	63	2								-3.087081	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
TYW1	55253	broad.mit.edu	37	7	66660217	66660217	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66660217C>T	ENST00000359626.5	+	15	2034	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)			46		Lung NSC(55;0.0846)|all_lung(88;0.183)			CGTGCCCTGGCATGAGGAAGT	0.488000																								0							SO:0001583	missense			ENST00000359626.5	1	1	hg19	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943301	0.53079	.	.	ENSG00000198874	ENST00000359626	T	0.51574	0.7	3.7	3.7	0.42460	tRNA wybutosine-synthesis (1);	0.000000	0.64402	U	0.000001	T	0.46870	0.1415	L	0.56340	1.77	0.80722	D	1	B	0.25235	0.121	B	0.34779	0.189	T	0.45891	-0.9230	10	0.33940	T	0.23	.	13.2966	0.60301	0.0:1.0:0.0:0.0	.	624	Q9NV66	TYW1_HUMAN	Y	624	ENSP00000352645:H624Y	ENSP00000352645:H624Y	H	+	1	0	TYW1	66297652	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.626000	0.74253	1.755000	0.51935	0.514000	0.50259	CAT		TCGA-IB-7651-01A-11D-2154-08	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	0	0	1	105	421	1	107	1	9.945393e-01	17	35	1	107	4		0	0	0	0	0	2	1	1	106	410	1	107	17								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMS2P4	5382	broad.mit.edu	37	7	66767872	66767872	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66767872G>A	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4								GCCACCTACAGGTAGGAGCGC	0.746000																								0											ENST00000414507.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	0	0	0	9	38	0	12	0	8.857108e-01	0	19	0	12	2		0	0	0	0	1	2	1	9.948013e-01	9	36	0	11	2								-19.998650	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.997331	0.990000	1	9.900000e-01	1
ZNF12	7559	broad.mit.edu	37	7	6730700	6730700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6730700G>A	ENST00000405858.1	-	5	2414	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12			16		Ovarian(82;0.0776)			GAATGAATTCGATGATGTATA	0.413000																								0							SO:0001587	stop_gained			ENST00000405858.1	0	0	hg19	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	43	9.845057	0.99277	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	4.17	1.09	0.20402	.	0.000000	0.33327	N	0.005033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7017	0.51575	0.0:0.0:0.3034:0.6966	.	.	.	.	X	551;625;587;683	.	ENSP00000344745:R587X	R	-	1	2	ZNF12	6697225	0.000000	0.05858	0.995000	0.50966	0.996000	0.88848	-0.696000	0.05104	0.208000	0.20626	-0.188000	0.12872	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	1	0	1	40	190	0	49	1	9.988138e-01	16	36	0	49	2		0	0	0	0	0	2	1	1	38	182	0	49	2								-2.962839	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AUTS2	26053	broad.mit.edu	37	7	70231115	70231115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231115G>A	ENST00000342771.4	+	9	1805	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2			50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)			GACATCTTGCGACAGGAACTG	0.582000																								0							SO:0001583	missense			ENST00000342771.4	1	1	hg19	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.468726|5.468726	0.96274|0.96274	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000443672|ENST00000406775;ENST00000342771	.|T;T	.|0.54071	.|0.59;0.59	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.114328	.|0.64402	.|D	.|0.000016	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.995	T|T	0.68307|0.68307	-0.5443|-0.5443	5|9	.|.	.|.	.|.	-9.7214|-9.7214	19.9983|19.9983	0.97395|0.97395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|495;495	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	N|Q	37|495	.|ENSP00000385263:R495Q;ENSP00000344087:R495Q	.|.	D|R	+|+	1|2	0|0	AUTS2|AUTS2	69869051|69869051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.159000|9.159000	0.94728|0.94728	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GAC|CGA		TCGA-IB-7651-01A-11D-2154-08	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	1	0	1	74	328	0	70	1	9.999922e-01	5	72	0	70	2		0	0	0	0	0	2	1	1	71	316	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AUTS2	26053	broad.mit.edu	37	7	70231305	70231305	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231305G>A	ENST00000342771.4	+	9	1995	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	AUTS2_ENST00000406775.2_Silent_p.T558T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2			50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)			TCATGCCGACGCCAGCACCTC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000342771.4	1	1	hg19	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.054992	0.19907	.	.	ENSG00000158321	ENST00000443672	.	.	.	5.32	4.38	0.52667	.	.	.	.	.	T	0.64103	0.2568	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	-7.7806	12.7117	0.57094	0.0:0.0:0.7115:0.2884	.	.	.	.	H	100	.	.	R	+	2	0	AUTS2	69869241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.633000	0.37113	2.498000	0.84270	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	1	0	1	35	319	0	54	1	9.960705e-01	4	76	0	54	2		0	0	0	0	0	2	1	1	34	311	0	53	2								-3.075756	1	1	121404	1	26	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.840000	1.000000	1.000000	0.986661	0.990000	1	9.900000e-01	1
AUTS2	26053	broad.mit.edu	37	7	70239029	70239029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70239029G>A	ENST00000342771.4	+	12	2167	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2			50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)			CAACCCTATCGATGTCGCTGC	0.488000																								0							SO:0001583	missense			ENST00000342771.4	1	1	hg19	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463611	0.84425	.	.	ENSG00000158321	ENST00000342771	T	0.35973	1.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.52011	1.625	0.80722	D	1	D;D	0.63880	0.966;0.993	P;P	0.52109	0.45;0.69	T	0.15694	-1.0428	9	.	.	.	-21.3555	19.609	0.95594	0.0:0.0:1.0:0.0	.	68;616	B4DLG0;Q8WXX7	.;AUTS2_HUMAN	N	616	ENSP00000344087:D616N	.	D	+	1	0	AUTS2	69876965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.408000	0.97327	2.882000	0.98803	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	1	0	1	45	199	0	49	0	9.890981e-01	0	34	0	49	2		0	0	0	0	0	2	1	1	43	197	0	48	2								-20.000000	1	1	121412	1	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AUTS2	26053	broad.mit.edu	37	7	70255978	70255978	+	Missense_Mutation	SNP	G	G	A	rs148604002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70255978G>A	ENST00000342771.4	+	19	4097	c.3776G>A	c.(3775-3777)cGa>cAa	p.R1259Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2			50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)			ATCGAGGCCCGATAAGCCGAG	0.602000																								0							SO:0001583	missense			ENST00000342771.4	1	1	hg19	CCDS5539.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	19.09	3.759010	0.69763	0.0	2.33E-4	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.65364	-0.11;-0.15	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.99	T	0.74671	-0.3587	9	.	.	.	.	18.5749	0.91151	0.0:0.0:1.0:0.0	.	711;1235;1259	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	Q	1235;1259	ENSP00000385263:R1235Q;ENSP00000344087:R1259Q	.	R	+	2	0	AUTS2	69893914	1.000000	0.71417	0.192000	0.23308	0.238000	0.25445	7.416000	0.80143	2.391000	0.81399	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2	1	0	1	13	86	0	26	1	9.985580e-01	15	64	0	26	2		0	0	0	0	0	2	1	9.995792e-01	13	83	0	26	2								-19.973150	1	1	115096	16	38	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.880000	1.000000	1.000000	0.993156	0.990000	1	9.900000e-01	1
PRKAR1B	5575	broad.mit.edu	37	7	720210	720210	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:720210C>T	ENST00000406797.1	-	3	505	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta			17		Ovarian(82;0.0779)			ACGTAGGACACGGCGTCCTCC	0.692000																								0							SO:0001583	missense			ENST00000406797.1	1	1	hg19	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447981	0.43429	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92495	-2.04;-2.04;-2.04;-2.04;-2.04;-3.04;-1.89;-3.05	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);	0.089401	0.44688	U	0.000437	D	0.86969	0.6061	L	0.29908	0.895	0.58432	D	0.999998	P	0.39551	0.678	B	0.33890	0.172	D	0.87960	0.2729	10	0.49607	T	0.09	-21.7663	18.0789	0.89436	0.0:1.0:0.0:0.0	.	111	P31321	KAP1_HUMAN	M	111;111;111;111;111;111;56;111	ENSP00000440449:V111M;ENSP00000444487:V111M;ENSP00000385749:V111M;ENSP00000385349:V111M;ENSP00000353415:V111M;ENSP00000402648:V111M;ENSP00000394633:V56M;ENSP00000406670:V111M	ENSP00000353415:V111M	V	-	1	0	PRKAR1B	686736	1.000000	0.71417	0.850000	0.33497	0.099000	0.18886	7.101000	0.76997	2.271000	0.75665	0.561000	0.74099	GTG		TCGA-IB-7651-01A-11D-2154-08	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1	1	0	0	39	183	0	31	1	9.938817e-01	3	37	0	31	2		0	0	0	0	0	2	1	1	38	177	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
POM121	9883	broad.mit.edu	37	7	72413259	72413259	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413259G>A	ENST00000434423.2	+	11	2727	c.2727G>A	c.(2725-2727)acG>acA	p.T909T	POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000257622.4_Silent_p.T644T|POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000395270.1_Silent_p.T644T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin			41		Lung NSC(55;0.163)			CCGTGCCAACGGCCACCAGCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000434423.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	0	0	0	143	286	0	68	1	9.999156e-01	15	16	0	68	2		0	0	0	0	0	2	1	1	132	268	0	91	2								-13.476100	1	0	120882	3	32	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POM121	9883	broad.mit.edu	37	7	72413455	72413455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413455G>A	ENST00000434423.2	+	11	2923	c.2923G>A	c.(2923-2925)Gct>Act	p.A975T	POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000257622.4_Missense_Mutation_p.A710T|POM121_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000395270.1_Missense_Mutation_p.A710T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin			41		Lung NSC(55;0.163)			ATTTGGGGCCGCTGAGGGGCA	0.652000																								0							SO:0001583	missense			ENST00000434423.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	0.004	-2.292911	0.00245	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05855	3.38;3.39;3.38;3.39;3.65	2.33	-1.67	0.08238	.	0.482456	0.15496	N	0.259272	T	0.01976	0.0062	N	0.03050	-0.425	0.09310	N	1	B;B	0.23650	0.089;0.041	B;B	0.16722	0.016;0.008	T	0.48068	-0.9067	10	0.10111	T	0.7	.	6.8782	0.24158	0.3294:0.0:0.6706:0.0	.	710;975	A8MXF9;Q96HA1	.;P121A_HUMAN	T	710;710;710;710;975	ENSP00000393020:A710T;ENSP00000257622:A710T;ENSP00000378687:A710T;ENSP00000351124:A710T;ENSP00000405562:A975T	ENSP00000257622:A710T	A	+	1	0	POM121	72051391	0.000000	0.05858	0.129000	0.21949	0.087000	0.18053	-0.483000	0.06536	-0.190000	0.10465	0.173000	0.16961	GCT		TCGA-IB-7651-01A-11D-2154-08	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	1	0	0	97	445	0	75	1	8.768774e-01	7	12	0	75	2		0	0	0	0	0	2	1	1	86	411	0	101	2								-20.000000	1	1	121082	3	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POM121	9883	broad.mit.edu	37	7	72413671	72413671	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413671T>G	ENST00000434423.2	+	11	3139	c.3139T>G	c.(3139-3141)Ttc>Gtc	p.F1047V	POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000257622.4_Missense_Mutation_p.F782V|POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000395270.1_Missense_Mutation_p.F782V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin			41		Lung NSC(55;0.163)			GGCTTCGGCCTTCGGCGCTCC	0.647000																								0							SO:0001583	missense			ENST00000434423.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	10.83	1.461648	0.26248	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09163	3.01;3.13;3.01;3.13;3.37	2.87	2.87	0.33458	.	0.000000	0.40728	N	0.001028	T	0.24122	0.0584	M	0.77820	2.39	0.09310	N	1	D;D	0.61697	0.986;0.99	P;D	0.63192	0.797;0.912	T	0.08411	-1.0723	10	0.15952	T	0.53	.	8.67	0.34145	0.0:0.0:0.0:1.0	.	782;1047	A8MXF9;Q96HA1	.;P121A_HUMAN	V	782;782;782;782;1047	ENSP00000393020:F782V;ENSP00000257622:F782V;ENSP00000378687:F782V;ENSP00000351124:F782V;ENSP00000405562:F1047V	ENSP00000257622:F782V	F	+	1	0	POM121	72051607	1.000000	0.71417	0.030000	0.17652	0.090000	0.18270	5.284000	0.65627	1.316000	0.45131	0.145000	0.16022	TTC		TCGA-IB-7651-01A-11D-2154-08	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	1	0	0	63	396	0	93	0	8.034780e-01	1	20	0	93	2		0	0	0	0	0	2	1	1	60	368	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
NSUN5	55695	broad.mit.edu	37	7	72721672	72721672	+	Missense_Mutation	SNP	G	G	A	rs137916678	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72721672G>A	ENST00000252594.6	-	3	314	c.299C>T	c.(298-300)gCg>gTg	p.A100V	NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V|NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5			8		Lung NSC(55;0.163)			CTTGAGCCTCGCCTGGTGCCG	0.597000																								0							SO:0001583	missense			ENST00000252594.6	1	1	hg19	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400031	0.83120	0.001589	1.16E-4	ENSG00000130305	ENST00000252594;ENST00000438747;ENST00000310326	T;T;T	0.15256	2.44;2.63;2.63	4.18	4.18	0.49190	.	0.055915	0.64402	D	0.000001	T	0.27629	0.0679	M	0.66939	2.045	0.49798	D	0.999825	P;P;P	0.52463	0.953;0.945;0.949	B;B;P	0.48400	0.372;0.269;0.576	T	0.05683	-1.0870	9	.	.	.	.	15.7336	0.77825	0.0:0.0:1.0:0.0	.	100;100;100	B4DP79;Q96P11;Q96P11-2	.;NSUN5_HUMAN;.	V	100	ENSP00000252594:A100V;ENSP00000388464:A100V;ENSP00000309126:A100V	.	A	-	2	0	NSUN5	72359608	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	8.882000	0.92420	2.165000	0.68154	0.485000	0.47835	GCG		TCGA-IB-7651-01A-11D-2154-08	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	1	0	0	35	113	0	28	1	1	48	131	0	28	2		0	0	0	0	0	2	1	1	34	110	0	27	2								-19.999990	1	1	121406	27	41	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM50	135892	broad.mit.edu	37	7	72734178	72734178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72734178C>T	ENST00000333149.2	-	3	663	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T|TRIM50_ENST00000493498.1_5'Flank	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50			20					ACCAGTTTGGCGATGAGCTCA	0.587000																								0							SO:0001583	missense			ENST00000333149.2	1	1	hg19	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581845	0.46006	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.64260	-0.09;-0.09	4.14	2.14	0.27477	.	0.437004	0.20192	N	0.097285	T	0.36248	0.0960	N	0.14661	0.345	0.20926	N	0.99982	B;B	0.18461	0.028;0.016	B;B	0.10450	0.005;0.002	T	0.05852	-1.0860	10	0.35671	T	0.21	.	2.8872	0.05664	0.0:0.4802:0.2583:0.2615	.	155;155	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	T	155	ENSP00000327994:A155T;ENSP00000413875:A155T	ENSP00000327994:A155T	A	-	1	0	TRIM50	72372114	0.814000	0.29104	0.973000	0.42090	0.966000	0.64601	1.180000	0.32005	2.042000	0.60477	0.485000	0.47835	GCC		TCGA-IB-7651-01A-11D-2154-08	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	0	0	1	153	899	1	239	0	1.046649e-01	0	4	1	239	2		0	0	0	0	0	2	1	1	147	872	1	235	16								-20.000000	1	1	121412	8	42	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM50	135892	broad.mit.edu	37	7	72738607	72738607	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72738607A>G	ENST00000333149.2	-	2	379	c.179T>C	c.(178-180)gTg>gCg	p.V60A	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50			20					GCTGCCGTCCACCGCCTGCCG	0.687000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000333149.2	1	1	hg19	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236062	0.22626	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	D;D	0.84442	-1.85;-1.85	3.7	2.48	0.30137	Zinc finger, RING/FYVE/PHD-type (1);	0.108239	0.39146	N	0.001441	T	0.78509	0.4294	L	0.53671	1.685	0.22001	N	0.999425	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.62388	-0.6865	10	0.23891	T	0.37	.	8.3006	0.32012	0.9005:0.0:0.0995:0.0	.	60;60	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	A	60	ENSP00000327994:V60A;ENSP00000413875:V60A	ENSP00000327994:V60A	V	-	2	0	TRIM50	72376543	0.016000	0.18221	0.823000	0.32752	0.789000	0.44602	2.697000	0.47060	0.585000	0.29608	0.397000	0.26171	GTG		TCGA-IB-7651-01A-11D-2154-08	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	1	0	1	78	335	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	75	326	0	62	2								-2.734425	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FKBP6	8468	broad.mit.edu	37	7	72754785	72754785	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72754785C>A	ENST00000252037.4	+	6	803	c.734C>A	c.(733-735)gCt>gAt	p.A245D	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D|FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa			16		Lung NSC(55;0.0908)|all_lung(88;0.198)			GGAGAGCAGGCTTTGATCATT	0.522000																								0							SO:0001583	missense			ENST00000252037.4	1	1	hg19	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204249	0.79127	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.987;0.996	D	0.92672	0.6151	10	0.87932	D	0	-9.8292	15.2625	0.73634	0.0:1.0:0.0:0.0	.	240;245;215	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	D	240;200;215;245	ENSP00000416277:A240D;ENSP00000402360:A200D;ENSP00000394952:A215D;ENSP00000252037:A245D	ENSP00000252037:A245D	A	+	2	0	FKBP6	72392721	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.971000	0.70440	2.284000	0.76573	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	1	0	1	28	275	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	28	270	0	65	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.750000	1.000000	1.000000	0.968494	0.990000	1	9.100000e-01	1
FZD9	8326	broad.mit.edu	37	7	72849343	72849343	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849343C>T	ENST00000344575.3	+	1	1235	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9			14		Lung NSC(55;0.0659)|all_lung(88;0.152)			GGTCCTGACGCTCACCTGGTT	0.647000													Pancreas(144;909 1878 36867 38226 39554)											0							SO:0001583	missense			ENST00000344575.3	1	1	hg19	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808435	0.70797	.	.	ENSG00000188763	ENST00000344575	T	0.48201	0.82	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000008	T	0.59183	0.2175	L	0.48877	1.53	0.80722	D	1	D	0.54207	0.965	D	0.63381	0.914	T	0.57808	-0.7747	10	0.36615	T	0.2	.	16.0988	0.81152	0.0:1.0:0.0:0.0	.	336	O00144	FZD9_HUMAN	F	336	ENSP00000345785:L336F	ENSP00000345785:L336F	L	+	1	0	FZD9	72487279	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	3.821000	0.55700	2.105000	0.64084	0.563000	0.77884	CTC		TCGA-IB-7651-01A-11D-2154-08	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1	1	0	1	84	388	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	83	379	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD9	8326	broad.mit.edu	37	7	72849501	72849501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849501C>A	ENST00000344575.3	+	1	1393	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9			14		Lung NSC(55;0.0659)|all_lung(88;0.152)			CTGGGCTTTGCTACGTGGCCA	0.642000													Pancreas(144;909 1878 36867 38226 39554)											0							SO:0001587	stop_gained			ENST00000344575.3	0	1	hg19	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	36	5.774497	0.96922	.	.	ENSG00000188763	ENST00000344575	.	.	.	4.46	2.59	0.31030	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2442	0.37515	0.0:0.8161:0.0:0.1839	.	.	.	.	X	388	.	ENSP00000345785:C388X	C	+	3	2	FZD9	72487437	1.000000	0.71417	0.973000	0.42090	0.711000	0.40976	1.755000	0.38379	0.403000	0.25479	0.563000	0.77884	TGC		TCGA-IB-7651-01A-11D-2154-08	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1	1	0	0	31	301	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	32	298	0	63	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.770000	1.000000	1.000000	0.973511	0.990000	1	9.300000e-01	1
TBL2	26608	broad.mit.edu	37	7	72987671	72987671	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72987671C>T	ENST00000305632.5	-	4	818	c.577G>A	c.(577-579)Gac>Aac	p.D193N	TBL2_ENST00000452475.1_Missense_Mutation_p.D193N|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2			19		Lung NSC(55;0.0659)|all_lung(88;0.152)			ATGCCAATGTCGATGACAGGC	0.522000																								0							SO:0001583	missense			ENST00000305632.5	1	1	hg19	CCDS5551.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.618	0.114819	0.08831	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.61040	0.14;0.14;0.14	5.48	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.082171	0.85682	N	0.000000	T	0.21590	0.0520	N	0.01086	-1.025	0.30548	N	0.765783	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28490	-1.0042	10	0.02654	T	1	-24.6045	8.879	0.35363	0.0:0.0913:0.0:0.9087	.	157;193	E9PF19;Q9Y4P3	.;TBL2_HUMAN	N	193;193;157;193	ENSP00000307260:D193N;ENSP00000413979:D157N;ENSP00000407371:D193N	ENSP00000307260:D193N	D	-	1	0	TBL2	72625607	1.000000	0.71417	0.983000	0.44433	0.422000	0.31414	6.240000	0.72363	0.930000	0.37217	-0.367000	0.07326	GAC		TCGA-IB-7651-01A-11D-2154-08	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	1	0	1	94	494	0	88	1	1	79	159	0	88	2		0	0	0	0	0	2	1	1	93	483	0	85	2								-2.969682	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLXIPL	51085	broad.mit.edu	37	7	73010506	73010506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73010506G>A	ENST00000313375.3	-	13	2082	c.2035C>T	c.(2035-2037)Ctc>Ttc	p.L679F	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like			13		Lung NSC(55;0.0659)|all_lung(88;0.152)			TGGGCACTGAGTGTGCTCACG	0.627000																								0							SO:0001583	missense			ENST00000313375.3	1	1	hg19	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107634	0.77096	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.98617	-4.75;-5.03;-4.75;-5.03;-4.75;-4.75	5.38	4.5	0.54988	.	0.000000	0.64402	D	0.000001	D	0.98795	0.9594	M	0.78344	2.41	0.44677	D	0.997665	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.975;0.987	D	0.98052	1.0388	10	0.36615	T	0.2	-34.5749	11.168	0.48554	0.0894:0.0:0.9106:0.0	.	586;679;679;677;677	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	F	677;679;679;677;586;585	ENSP00000412330:L677F;ENSP00000406296:L679F;ENSP00000320886:L679F;ENSP00000346629:L677F;ENSP00000378616:L586F;ENSP00000392636:L585F	ENSP00000320886:L679F	L	-	1	0	MLXIPL	72648442	1.000000	0.71417	0.856000	0.33681	0.977000	0.68977	6.734000	0.74801	2.530000	0.85305	0.558000	0.71614	CTC		TCGA-IB-7651-01A-11D-2154-08	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	1	0	1	65	253	0	62	1	9.333490e-01	9	11	0	62	2		0	0	0	0	0	2	1	1	65	249	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MLXIPL	51085	broad.mit.edu	37	7	73012016	73012016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73012016C>T	ENST00000313375.3	-	9	1146	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like			13		Lung NSC(55;0.0659)|all_lung(88;0.152)			GCGCTGGAGTCCAAGGGGCCA	0.652000																								0							SO:0001583	missense			ENST00000313375.3	1	1	hg19	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851344	0.71719	0.0	1.48E-4	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24151	2.46;2.47;2.46;2.47;1.87;1.88	4.31	4.31	0.51392	.	1.866310	0.02698	N	0.111450	T	0.48223	0.1488	L	0.51422	1.61	0.19300	N	0.999974	D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.998;0.998;0.998	D;D;P;D;D;D	0.73708	0.981;0.917;0.829;0.917;0.917;0.917	T	0.21999	-1.0229	10	0.56958	D	0.05	-11.6524	9.7151	0.40270	0.2075:0.7925:0.0:0.0	.	274;274;367;367;367;367	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	N	367;367;367;367;274;274;200	ENSP00000412330:D367N;ENSP00000406296:D367N;ENSP00000320886:D367N;ENSP00000346629:D367N;ENSP00000378616:D274N;ENSP00000392636:D274N	ENSP00000320886:D367N	D	-	1	0	MLXIPL	72649952	0.996000	0.38824	0.998000	0.56505	0.942000	0.58702	1.454000	0.35178	1.945000	0.56424	0.423000	0.28283	GAC		TCGA-IB-7651-01A-11D-2154-08	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	1	0	0	16	198	0	37	0	3.026513e-01	1	13	0	37	2		0	0	0	0	0	2	1	9.999204e-01	16	189	0	36	2								-19.915320	1	1	111242	1	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.900000	0.540000	1.000000	1.000000	0.869719	0.900000	1	7.000000e-01	1
VPS37D	155382	broad.mit.edu	37	7	73085532	73085532	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73085532G>A	ENST00000324941.4	+	4	716	c.582G>A	c.(580-582)ccG>ccA	p.P194P	VPS37D_ENST00000451519.1_Silent_p.P109P	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)			2		Lung NSC(55;0.0908)|all_lung(88;0.198)			AATCCTTCCCGGCTGCAGCTG	0.736000																								0							SO:0001819	synonymous_variant			ENST00000324941.4	0	1	hg19	CCDS43596.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	1	0	0	5	78	0	16	0	1.581979e-02	0	3	0	16	2		0	0	0	0	0	2	1	9.355241e-01	5	76	0	14	2								-9.299588	1	1	116302	1	22	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.770000	0.290000	1.000000	1.000000	0.752361	0.770000	0	4.900000e-01	1
ABHD11	83451	broad.mit.edu	37	7	73151260	73151260	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73151260G>T	ENST00000222800.3	-	5	883	c.814C>A	c.(814-816)Cat>Aat	p.H272N	LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000437775.2_Splice_Site_p.H265N|ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Splice_Site_p.H215N	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11			4		Lung NSC(55;0.0908)|all_lung(88;0.198)			CTAGCTTACTGCACGAACTGG	0.612000																								0							SO:0001630	splice_region_variant			ENST00000222800.3	1	0	hg19	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	G	6.964	0.547811	0.13312	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.66995	-0.24;-0.24;-0.24	4.38	2.47	0.30058	Alpha/beta hydrolase fold-1 (1);	0.522037	0.21087	N	0.080383	T	0.34658	0.0905	N	0.02802	-0.49	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.002	T	0.16719	-1.0393	10	0.17832	T	0.49	1.1316	6.0827	0.19950	0.1074:0.1897:0.7029:0.0	.	265;272	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	N	265;272;215	ENSP00000416970:H265N;ENSP00000222800:H272N;ENSP00000378579:H215N	ENSP00000222800:H272N	H	-	1	0	ABHD11	72789196	0.161000	0.22892	0.479000	0.27329	0.245000	0.25701	2.379000	0.44318	0.823000	0.34589	0.561000	0.74099	CAT		TCGA-IB-7651-01A-11D-2154-08	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1	1	0	1	140	584	0	177	1	1	45	148	0	177	2		0	0	0	0	0	2	1	1	139	571	0	174	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLDN3	1365	broad.mit.edu	37	7	73183818	73183818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73183818C>T	ENST00000395145.2	-	1	782	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3			2		Lung NSC(55;0.159)			TACTTCTTCTCGCGTGGGGGA	0.716000																								0							SO:0001583	missense			ENST00000395145.2	1	1	hg19	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076025	0.55646	.	.	ENSG00000165215	ENST00000395145	D	0.84660	-1.88	4.6	4.6	0.57074	.	0.481200	0.21587	N	0.072148	T	0.80259	0.4590	L	0.50333	1.59	0.47547	D	0.999459	B	0.12630	0.006	B	0.06405	0.002	T	0.74604	-0.3610	10	0.13470	T	0.59	.	14.9175	0.70810	0.0:1.0:0.0:0.0	.	188	O15551	CLD3_HUMAN	K	188	ENSP00000378577:E188K	ENSP00000378577:E188K	E	-	1	0	CLDN3	72821754	0.050000	0.20438	0.998000	0.56505	0.654000	0.38779	1.689000	0.37700	2.084000	0.62774	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	1	0	0	28	241	0	32	0	4.474260e-01	0	14	0	32	2		0	0	0	0	0	2	1	1	27	234	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.850000	1.000000	1.000000	0.989206	0.990000	1	9.900000e-01	1
CLDN3	1365	broad.mit.edu	37	7	73184141	73184141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184141C>T	ENST00000395145.2	-	1	459	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3			2		Lung NSC(55;0.159)			GATGAGGGCGCGGGCCGCCTG	0.677000																								0							SO:0001583	missense			ENST00000395145.2	0	1	hg19	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245394	0.95272	.	.	ENSG00000165215	ENST00000395145	D	0.89875	-2.58	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.96883	0.8982	H	0.98951	4.38	0.49582	D	0.999803	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	.	15.4509	0.75271	0.0:1.0:0.0:0.0	.	80	O15551	CLD3_HUMAN	H	80	ENSP00000378577:R80H	ENSP00000378577:R80H	R	-	2	0	CLDN3	72822077	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.773000	0.85462	2.223000	0.72356	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	1	0	0	14	175	0	25	1	6.555422e-01	5	24	0	25	2		0	0	0	0	0	2	1	9.997559e-01	14	171	0	25	2								-18.771270	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.900000	0.510000	1.000000	1.000000	0.862373	0.900000	1	6.800000e-01	1
CLDN3	1365	broad.mit.edu	37	7	73184317	73184317	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184317G>A	ENST00000395145.2	-	1	283	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3			2		Lung NSC(55;0.159)			CGCAGCACACGATGGTGCCCA	0.682000																								0							SO:0001819	synonymous_variant			ENST00000395145.2	0	1	hg19	CCDS5559.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	0	0	0	23	104	0	28	1	8.353621e-01	4	13	0	28	2		0	0	0	0	0	2	1	9.999997e-01	23	102	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
ELN	2006	broad.mit.edu	37	7	73470641	73470641	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73470641C>T	ENST00000252034.7	+	20	1590	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000380553.4_Silent_p.Y280Y|ELN_ENST00000320399.6_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000358929.4_Silent_p.Y397Y	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin			32		Lung NSC(55;0.159)			TTCCTACTTACGGGGTTGGAG	0.632000			T	PAX5	B-ALL		Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome								Dom	yes		7	7q11.23	2006	elastin	yes	L	0							SO:0001819	synonymous_variant			ENST00000252034.7	1	1	hg19	CCDS5562.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	1	0	0	143	636	0	158	0	1	0	570	0	158	2		0	0	0	0	0	2	1	1	139	624	0	158	2								-3.100860	1	1	121368	1	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LIMK1	3984	broad.mit.edu	37	7	73523282	73523282	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73523282C>T	ENST00000336180.2	+	10	1251	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	LIMK1_ENST00000418310.1_Silent_p.I430I|LIMK1_ENST00000538333.3_Silent_p.I366I	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1			21		Lung NSC(55;0.137)		Dabrafenib(DB08912)	TCAAGTTCATCGGGGTGCTCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000336180.2	1	1	hg19	CCDS5563.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	1	0	1	43	233	0	67	1	1	26	129	0	67	2		0	0	0	0	0	2	1	1	43	228	0	67	2								-2.981634	1	1	121412	3	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
EIF4H	7458	broad.mit.edu	37	7	73609630	73609630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73609630C>T	ENST00000265753.8	+	7	878	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H			4					TCAAAAGGAGCAAGAATGAGC	0.607000																								0							SO:0001587	stop_gained			ENST00000265753.8	0	1	hg19	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516283	0.85495	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	.	.	.	4.49	4.49	0.54785	.	0.249975	0.33199	N	0.005166	.	.	.	.	.	.	0.31653	N	0.646531	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-6.0173	11.1794	0.48618	0.1841:0.8159:0.0:0.0	.	.	.	.	X	247;227	.	ENSP00000265753:Q247X	Q	+	1	0	EIF4H	73247566	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	3.312000	0.51927	2.321000	0.78463	0.563000	0.77884	CAA		TCGA-IB-7651-01A-11D-2154-08	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	1	0	0	37	205	0	50	1	1	70	799	0	50	2		0	0	0	0	0	2	1	1	36	199	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
RFC2	5982	broad.mit.edu	37	7	73664070	73664070	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73664070G>A	ENST00000055077.3	-	3	284	c.224C>T	c.(223-225)gCg>gTg	p.A75V	RFC2_ENST00000352131.3_Splice_Site_p.A75V	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa			8					GGTACTCACCGCAATGATGAT	0.502000																								0							SO:0001630	splice_region_variant			ENST00000055077.3	1	0	hg19	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411092	0.83340	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;D	0.92495	1.07;-3.05	4.63	4.63	0.57726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.048801	0.85682	D	0.000000	D	0.85729	0.5764	N	0.04686	-0.185	0.80722	D	1	P;P;P	0.47191	0.593;0.646;0.891	B;P;P	0.45971	0.366;0.499;0.499	D	0.87888	0.2682	10	0.44086	T	0.13	.	16.4223	0.83771	0.0:0.0:1.0:0.0	.	75;75;75	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	V	75	ENSP00000275627:A75V;ENSP00000055077:A75V	ENSP00000055077:A75V	A	-	2	0	RFC2	73302006	1.000000	0.71417	0.921000	0.36526	0.423000	0.31445	9.318000	0.96334	2.309000	0.77851	0.442000	0.29010	GCG		TCGA-IB-7651-01A-11D-2154-08	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	1	0	0	20	418	0	82	1	6.695884e-01	4	45	0	82	2		0	0	0	0	0	2	1	9.999936e-01	20	403	0	81	2								-3.089281	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.550000	0.340000	1.000000	0.540000	0.583329	0.550000	0	4.300000e-01	7.100000e-01
CLIP2	7461	broad.mit.edu	37	7	73753262	73753262	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73753262G>A	ENST00000395060.1	+	2	606	c.606G>A	c.(604-606)tcG>tcA	p.S202S	CLIP2_ENST00000361545.5_Silent_p.S202S|CLIP2_ENST00000223398.6_Silent_p.S202S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2			30					GCAACGAGTCGGGATCCAACC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000395060.1	1	1	hg19	CCDS5569.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	1	0	1	66	358	0	70	1	9.999737e-01	28	57	0	70	2		0	0	0	0	0	2	1	1	66	358	0	69	2								-2.721432	1	1	119714	8	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP2	7461	broad.mit.edu	37	7	73768230	73768230	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768230C>T	ENST00000395060.1	+	3	699	c.699C>T	c.(697-699)ggC>ggT	p.G233G	CLIP2_ENST00000361545.5_Silent_p.G233G|CLIP2_ENST00000223398.6_Silent_p.G233G			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2			30					CGAAGACTGGCGTGGTGCGGT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000395060.1	0	1	hg19	CCDS5569.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	0	0	0	20	697	0	132	1	9.198867e-01	7	145	0	132	2		0	0	0	0	0	2	1	9.999935e-01	20	677	0	131	2								-2.817158	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.330000	0.200000	1.000000	0.330000	0.379994	0.330000	0	2.600000e-01	4.400000e-01
CLIP2	7461	broad.mit.edu	37	7	73768325	73768325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768325C>T	ENST00000395060.1	+	3	794	c.794C>T	c.(793-795)gCg>gTg	p.A265V	CLIP2_ENST00000361545.5_Missense_Mutation_p.A265V|CLIP2_ENST00000223398.6_Missense_Mutation_p.A265V			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2			30					GGGGCGGTGGCGGGCACCAGG	0.652000																								0							SO:0001583	missense			ENST00000395060.1	1	1	hg19	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130631	0.77549	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.75050	-0.9;-0.9;-0.9	5.5	5.5	0.81552	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.987;0.997	D	0.89636	0.3859	10	0.62326	D	0.03	-40.9586	18.1332	0.89608	0.0:1.0:0.0:0.0	.	265;265	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	V	265	ENSP00000223398:A265V;ENSP00000355151:A265V;ENSP00000378500:A265V	ENSP00000223398:A265V	A	+	2	0	CLIP2	73406261	1.000000	0.71417	0.983000	0.44433	0.133000	0.20885	7.452000	0.80683	2.861000	0.98227	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	1	0	1	143	637	0	144	1	9.999999e-01	16	87	0	144	2		0	0	0	0	0	2	1	1	134	612	0	144	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIP2	7461	broad.mit.edu	37	7	73790432	73790432	+	Silent	SNP	C	C	T	rs138546692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73790432C>T	ENST00000395060.1	+	9	1701	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	CLIP2_ENST00000361545.5_Silent_p.Y532Y|CLIP2_ENST00000223398.6_Silent_p.Y567Y			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2			30					GGGATAAATACGAGAAGGCCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000395060.1	1	1	hg19	CCDS5569.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	1	0	1	36	173	0	31	1	9.999977e-01	28	73	0	31	2		0	0	0	0	0	2	1	1	36	173	0	31	2								-20.000000	1	1	121378	1	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
GTF2IRD1	9569	broad.mit.edu	37	7	73922483	73922483	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73922483A>G	ENST00000265755.3	+	2	466	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1			49					CTCCGCGTTCACCCGCAAAGA	0.647000																								0							SO:0001583	missense			ENST00000265755.3	1	1	hg19	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	A	6.080	0.383092	0.11524	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.27720	1.66;1.65;1.66;1.65	4.57	-9.15	0.00698	.	0.620792	0.14960	N	0.288424	T	0.06416	0.0165	N	0.02011	-0.69	0.09310	N	0.99999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.13656	-1.0501	10	0.23891	T	0.37	-5.8659	2.0117	0.03489	0.5072:0.14:0.1851:0.1676	.	25;25;25;25	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	A	25	ENSP00000265755:T25A;ENSP00000397566:T25A;ENSP00000408477:T25A;ENSP00000418383:T25A	ENSP00000265755:T25A	T	+	1	0	GTF2IRD1	73560419	0.024000	0.19004	0.049000	0.19019	0.725000	0.41563	-0.315000	0.08081	-1.829000	0.01201	-0.441000	0.05720	ACC		TCGA-IB-7651-01A-11D-2154-08	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	1	0	1	49	233	0	53	1	9.981324e-01	18	30	0	53	2		0	0	0	0	0	2	1	1	47	229	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GTF2I	2969	broad.mit.edu	37	7	74114695	74114695	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114695C>T	ENST00000324896.4	+	5	881	c.492C>T	c.(490-492)aaC>aaT	p.N164N	GTF2I_ENST00000346152.4_Silent_p.N164N|GTF2I_ENST00000443166.1_Silent_p.N164N|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000353920.4_Silent_p.N164N|GTF2I_ENST00000416070.1_Silent_p.N164N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi			19					ACCCCGAGAACTATGATCTTG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000324896.4	1	1	hg19	CCDS5573.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	0	0	0	156	612	0	179	1	1	9	222	0	179	2		0	0	0	0	0	2	1	1	154	601	0	178	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL28A1	340267	broad.mit.edu	37	7	7483263	7483263	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7483263C>A	ENST00000399429.3	-	20	1743	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1			42		Ovarian(82;0.0789)			GGGCCTCTTGCTCCCGGAAGC	0.527000																								0							SO:0001583	missense			ENST00000399429.3	1	1	hg19	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	4.153	0.026728	0.08054	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93426	-3.22	4.93	-4.71	0.03279	.	1.289190	0.05636	U	0.582550	D	0.82323	0.5012	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.27882	0.073;0.005;0.192	B;B;B	0.28638	0.055;0.01;0.092	T	0.70880	-0.4752	10	0.10111	T	0.7	0.9378	14.3921	0.66986	0.0:0.7642:0.0:0.2358	.	535;535;535	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	S	535	ENSP00000382356:A535S	ENSP00000382347:A535S	A	-	1	0	COL28A1	7449788	0.000000	0.05858	0.058000	0.19502	0.823000	0.46562	-0.681000	0.05191	-0.885000	0.03971	-0.345000	0.07892	GCA		TCGA-IB-7651-01A-11D-2154-08	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	1	0	1	49	180	0	59	0	4.758173e-02	1	1	0	59	2		0	0	0	0	0	2	1	1	49	179	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POM121C	100101267	broad.mit.edu	37	7	75051253	75051253	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75051253G>A	ENST00000257665.5	-	11	3007	c.3008C>T	c.(3007-3009)aCg>aTg	p.T1003M	POM121C_ENST00000453279.2_Missense_Mutation_p.T761M|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C			14					CTGGATGGGCGTAGGCACGTG	0.637000																								0							SO:0001583	missense			ENST00000257665.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.64	1.999216	0.35226	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.19669	3.61;2.13	0.351	0.351	0.16042	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.31283	N	0.690388	D	0.69078	0.997	P	0.45071	0.468	T	0.22591	-1.0212	8	0.62326	D	0.03	.	.	.	.	.	1003	A8CG34	P121C_HUMAN	M	1003;761	ENSP00000257665:T1003M;ENSP00000414208:T761M	ENSP00000257665:T1003M	T	-	2	0	POM121C	74889189	0.201000	0.23410	0.009000	0.14445	0.003000	0.03518	0.672000	0.25187	0.399000	0.25367	0.404000	0.27445	ACG		TCGA-IB-7651-01A-11D-2154-08	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	0	0	0	10	333	1	48	0	1.186231e-02	3	50	1	48	6		0	0	0	0	0	2	0	3.163847e-02	11	332	1	49	21								-10.139620	1	1	121404	6	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.360000	0.180000	1.000000	0.340000	0.407166	0.360000	0	2.600000e-01	5.100000e-01
HIP1	3092	broad.mit.edu	37	7	75182880	75182880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75182880C>T	ENST00000336926.6	-	22	2193	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	HIP1_ENST00000434438.2_Missense_Mutation_p.E723K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1			51					TTACAGGCCTCGGTCAGTGCT	0.562000			T	PDGFRB	CMML										Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0							SO:0001583	missense			ENST00000336926.6	1	1	hg19	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.392104	0.42410	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.72;2.49	5.17	4.3	0.51218	.	0.349867	0.36374	N	0.002631	T	0.13243	0.0321	L	0.51422	1.61	0.80722	D	1	B;B	0.15141	0.012;0.004	B;B	0.09377	0.004;0.004	T	0.05053	-1.0909	10	0.30078	T	0.28	-15.5609	10.8155	0.46573	0.0:0.9123:0.0:0.0877	.	723;723	E7ES17;O00291	.;HIP1_HUMAN	K	723	ENSP00000336747:E723K;ENSP00000410300:E723K	ENSP00000336747:E723K	E	-	1	0	HIP1	75020816	0.999000	0.42202	0.873000	0.34254	0.553000	0.35397	5.389000	0.66255	1.419000	0.47118	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	1	0	0	48	219	0	57	1	9.999953e-01	7	80	0	57	2		0	0	0	0	0	2	1	1	45	209	0	54	2								-3.329692	1	1	121412	3	36	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIP1	3092	broad.mit.edu	37	7	75184851	75184851	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75184851G>T	ENST00000336926.6	-	19	1858	c.1832C>A	c.(1831-1833)tCt>tAt	p.S611Y	HIP1_ENST00000434438.2_Missense_Mutation_p.S611Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1			51					CTGGCACATAGATTCCTAAAA	0.517000			T	PDGFRB	CMML										Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0							SO:0001583	missense			ENST00000336926.6	0	1	hg19	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221613	0.39300	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15487	2.64;2.42	5.76	5.76	0.90799	.	0.416790	0.23325	N	0.049414	T	0.12220	0.0297	N	0.08118	0	0.18873	N	0.999987	P;P	0.50710	0.74;0.938	B;P	0.46758	0.212;0.526	T	0.13282	-1.0515	10	0.62326	D	0.03	-6.2134	10.9381	0.47257	0.0855:0.0:0.9145:0.0	.	611;611	E7ES17;O00291	.;HIP1_HUMAN	Y	611	ENSP00000336747:S611Y;ENSP00000410300:S611Y	ENSP00000336747:S611Y	S	-	2	0	HIP1	75022787	0.840000	0.29493	0.421000	0.26609	0.059000	0.15707	3.945000	0.56637	2.721000	0.93114	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	1	0	0	15	202	0	24	1	9.801007e-01	4	86	0	24	2		0	0	0	0	0	2	1	9.998630e-01	15	196	0	24	2								-19.155520	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.840000	0.490000	1.000000	1.000000	0.827052	0.840000	0	6.400000e-01	1
HIP1	3092	broad.mit.edu	37	7	75187529	75187529	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75187529C>A	ENST00000336926.6	-	15	1432	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	HIP1_ENST00000434438.2_Missense_Mutation_p.S469I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1			51					CTTTAGCTTGCTATATCGCTG	0.542000			T	PDGFRB	CMML										Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0							SO:0001583	missense			ENST00000336926.6	1	1	hg19	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626792	0.46840	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14640	2.7;2.49	5.18	4.24	0.50183	.	0.192946	0.56097	D	0.000033	T	0.13500	0.0327	L	0.54323	1.7	0.40654	D	0.982062	P;P	0.45531	0.86;0.767	B;B	0.36845	0.234;0.168	T	0.04855	-1.0922	10	0.52906	T	0.07	-21.3599	13.0976	0.59202	0.0:0.7076:0.2924:0.0	.	469;469	E7ES17;O00291	.;HIP1_HUMAN	I	469	ENSP00000336747:S469I;ENSP00000410300:S469I	ENSP00000336747:S469I	S	-	2	0	HIP1	75025465	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.944000	0.40263	2.417000	0.82017	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	1	0	1	73	356	0	76	1	9.999882e-01	9	73	0	76	2		0	0	0	0	0	2	1	1	71	347	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HIP1	3092	broad.mit.edu	37	7	75221405	75221405	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75221405C>A	ENST00000336926.6	-	4	379	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HIP1_ENST00000434438.2_Missense_Mutation_p.R118I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1			51					CAATTCATTTCTGTATCTCAG	0.502000			T	PDGFRB	CMML										Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0							SO:0001583	missense			ENST00000336926.6	1	1	hg19	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576197	0.86645	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.32988	1.43;1.43;1.43	6.01	4.89	0.63831	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.040310	0.85682	D	0.000000	T	0.25044	0.0608	L	0.39898	1.24	0.54753	D	0.999987	B	0.16166	0.016	B	0.25759	0.063	T	0.05435	-1.0885	10	0.25751	T	0.34	-20.8002	9.3504	0.38133	0.0:0.0869:0.0:0.9131	.	118	O00291	HIP1_HUMAN	I	118;118;89	ENSP00000336747:R118I;ENSP00000410300:R118I;ENSP00000414280:R89I	ENSP00000336747:R118I	R	-	2	0	HIP1	75059341	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	4.605000	0.61119	1.140000	0.42260	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	1	0	1	90	419	0	117	1	9.998079e-01	8	52	0	117	2		0	0	0	0	0	2	1	1	89	412	0	114	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCL24	6369	broad.mit.edu	37	7	75441154	75441154	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75441154C>T	ENST00000416943.1	-	4	413	c.320G>A	c.(319-321)gGc>gAc	p.G107D	CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24			3					CTGGACAGGGCCCTTGACAGC	0.627000																								0							SO:0001583	missense			ENST00000416943.1	1	1	hg19	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748531	0.15710	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.03889	3.77;3.77	3.62	-4.49	0.03504	Chemokine interleukin-8-like domain (1);	2.562570	0.01641	N	0.024070	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.20384	0.029	T	0.36841	-0.9731	10	0.42905	T	0.14	.	5.6435	0.17577	0.3951:0.1633:0.4416:0.0	.	107	O00175	CCL24_HUMAN	D	107	ENSP00000222902:G107D;ENSP00000400533:G107D	ENSP00000222902:G107D	G	-	2	0	CCL24	75279090	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.177000	0.09796	-0.929000	0.03757	-0.425000	0.05940	GGC		TCGA-IB-7651-01A-11D-2154-08	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	1	0	1	34	238	0	37	1	9.385089e-01	9	26	0	37	2		0	0	0	0	0	2	1	1	34	236	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999329	0.990000	1	9.900000e-01	1
COL28A1	340267	broad.mit.edu	37	7	7545675	7545675	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7545675G>A	ENST00000399429.3	-	11	1136	c.996C>T	c.(994-996)gaC>gaT	p.D332D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1			42		Ovarian(82;0.0789)			TTGGGCCTGGGTCTCCTGGAG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000399429.3	1	1	hg19	CCDS43553.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	1	0	1	52	236	0	59	0	8.896610e-02	0	3	0	59	2		0	0	0	0	0	2	1	1	52	234	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHBDD2	57414	broad.mit.edu	37	7	75511175	75511175	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75511175C>T	ENST00000006777.6	+	2	342	c.207C>T	c.(205-207)gtC>gtT	p.V69V	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_5'Flank|RHBDD2_ENST00000318622.4_5'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2			6					ACATCTTTGTCTACGAGAATC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000006777.6	1	1	hg19	CCDS43602.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	1	0	1	143	625	0	141	1	1	73	261	0	141	2		0	0	0	0	0	2	1	1	141	608	0	141	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POR	5447	broad.mit.edu	37	7	75609862	75609862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609862G>A	ENST00000450476.1	+	1	45	c.35G>A	c.(34-36)gGa>gAa	p.G12E	POR_ENST00000394893.1_Intron|POR_ENST00000461988.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000419840.1_Intron|POR_ENST00000439269.1_5'Flank			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase			9				Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CCTCCCTGGGGACTCCAGATC	0.637000																								0							SO:0001583	missense			ENST00000450476.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.50	2.555140	0.45487	.	.	ENSG00000127948	ENST00000450476	T	0.03094	4.05	3.16	-5.79	0.02354	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.19775	N	0.999955	P	0.34815	0.47	B	0.23574	0.047	T	0.39502	-0.9611	8	0.87932	D	0	.	0.3351	0.00325	0.374:0.1491:0.2365:0.2404	.	12	E7EVY7	.	E	12	ENSP00000416572:G12E	ENSP00000416572:G12E	G	+	2	0	POR	75447798	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.066000	0.03454	-1.195000	0.02680	0.465000	0.42564	GGA		TCGA-IB-7651-01A-11D-2154-08	POR-202	KNOWN	basic	protein_coding	protein_coding		0	0	1	63	253	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	63	248	0	53	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POR	5447	broad.mit.edu	37	7	75609877	75609877	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609877T>C	ENST00000450476.1	+	1	60	c.50T>C	c.(49-51)gTa>gCa	p.V17A	POR_ENST00000394893.1_Intron|POR_ENST00000461988.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000419840.1_Intron|POR_ENST00000439269.1_5'Flank			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase			9				Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CAGATCCATGTATCTGAAAGG	0.637000																								0							SO:0001583	missense			ENST00000450476.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	2.573	-0.299130	0.05532	.	.	ENSG00000127948	ENST00000450476	T	0.02944	4.1	2.86	-4.17	0.03857	.	.	.	.	.	T	0.01489	0.0048	.	.	.	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.47971	-0.9075	8	0.22109	T	0.4	.	1.4206	0.02311	0.17:0.1213:0.3948:0.3139	.	17	E7EVY7	.	A	17	ENSP00000416572:V17A	ENSP00000416572:V17A	V	+	2	0	POR	75447813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.040000	0.01416	-1.000000	0.03438	-1.277000	0.01392	GTA		TCGA-IB-7651-01A-11D-2154-08	POR-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	48	200	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	48	196	0	43	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
YWHAG	7532	broad.mit.edu	37	7	75959524	75959524	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75959524C>T	ENST00000307630.3	-	2	336	c.114G>A	c.(112-114)tcG>tcA	p.S38S		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma			8					GTTCCTCATTCGACAGTGGCT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000307630.3	1	1	hg19	CCDS5584.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	1	0	1	60	245	0	47	1	1	109	286	0	47	2		0	0	0	0	0	2	1	1	59	240	0	45	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRCRB4D	0	broad.mit.edu	37	7	76024632	76024632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76024632G>A	ENST00000275560.3	-	7	1231	c.884C>T	c.(883-885)aCg>aTg	p.T295M	SRCRB4D_ENST00000492979.2_5'Flank|ZP3_ENST00000336517.4_5'Flank	NM_080744.1	NP_542782.1						21					TGCTGTGAGCGTTGGGGGACC	0.627000																								0							SO:0001583	missense			ENST00000275560.3	0	1	hg19	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780007	0.31502	.	.	ENSG00000146700	ENST00000275560	T	0.01287	5.05	4.03	4.03	0.46877	Speract/scavenger receptor-related (1);	1.036360	0.07576	N	0.919459	T	0.01353	0.0044	N	0.14661	0.345	0.23435	N	0.99768	P	0.51653	0.947	B	0.39027	0.288	T	0.56463	-0.7975	10	0.46703	T	0.11	.	11.9696	0.53055	0.0:0.0:1.0:0.0	.	295	Q8WTU2	SRB4D_HUMAN	M	295	ENSP00000275560:T295M	ENSP00000275560:T295M	T	-	2	0	SRCRB4D	75862568	0.169000	0.23002	0.256000	0.24389	0.019000	0.09904	2.831000	0.48144	2.523000	0.85059	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3	1	0	0	16	303	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	9.999304e-01	16	298	0	49	2								-17.787270	1	1	121412	1	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.610000	0.360000	1.000000	0.590000	0.638187	0.610000	0	4.700000e-01	8.000000e-01
DTX2	113878	broad.mit.edu	37	7	76112048	76112048	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76112048G>T	ENST00000324432.5	+	5	1002	c.492G>T	c.(490-492)aaG>aaT	p.K164N	DTX2_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000446600.1_Missense_Mutation_p.K73N|DTX2_ENST00000446820.2_Missense_Mutation_p.K164N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase			27					AGACCAACAAGACTTCCAGCT	0.647000																								0							SO:0001583	missense			ENST00000324432.5	1	1	hg19	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.737445	0.49045	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.41	3.6	0.41247	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	L	0.52011	1.625	0.48901	D	0.999729	D;D;D	0.76494	0.996;0.999;0.996	D;D;P	0.71414	0.931;0.973;0.88	T	0.43114	-0.9411	10	0.33940	T	0.23	-28.7245	8.4975	0.33136	0.2368:0.0:0.7632:0.0	.	73;164;164	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	N	164;164;73;73;164;164;164	ENSP00000322885:K164N;ENSP00000305242:K164N;ENSP00000397648:K73N;ENSP00000390218:K164N;ENSP00000411986:K164N;ENSP00000392545:K164N	ENSP00000305242:K164N	K	+	3	2	AC005522.1	75949984	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	2.134000	0.42102	0.673000	0.31224	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2	1	0	1	27	265	0	44	1	9.694092e-01	6	52	0	44	2		0	0	0	0	0	2	1	9.999999e-01	25	257	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.740000	1.000000	1.000000	0.967712	0.990000	1	9.100000e-01	1
DTX2	113878	broad.mit.edu	37	7	76131738	76131738	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131738C>A	ENST00000324432.5	+	9	1864	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000446600.1_Missense_Mutation_p.L361M|DTX2_ENST00000446820.2_Missense_Mutation_p.L405M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase			27					CTTCCACCTGCTGTGCCTCCT	0.647000																								0							SO:0001583	missense			ENST00000324432.5	1	1	hg19	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	24.1	4.498720	0.85069	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85629	1.92;-2.01;1.92;1.92;1.92;-2.01	5.48	4.6	0.57074	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.139272	0.49916	D	0.000130	D	0.91751	0.7391	M	0.80183	2.485	0.58432	D	0.999999	D;P;D;D;D	0.89917	0.987;0.939;1.0;0.987;0.961	D;D;D;D;D	0.97110	0.986;0.979;1.0;0.986;0.975	D	0.91606	0.5299	10	0.46703	T	0.11	-29.1279	12.9873	0.58598	0.0:0.9222:0.0:0.0778	.	361;83;361;405;452	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	M	452;405;361;361;452;452;405	ENSP00000322885:L452M;ENSP00000305242:L405M;ENSP00000397648:L361M;ENSP00000390218:L452M;ENSP00000411986:L452M;ENSP00000392545:L405M	ENSP00000305242:L405M	L	+	1	2	AC005522.1	75969674	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.994000	0.70623	1.314000	0.45095	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2	1	0	1	44	146	0	28	1	1	43	64	0	28	2		0	0	0	0	0	2	1	1	44	145	0	28	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DTX2	113878	broad.mit.edu	37	7	76131750	76131750	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131750G>A	ENST00000324432.5	+	9	1876	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000446600.1_Missense_Mutation_p.A365T|DTX2_ENST00000446820.2_Missense_Mutation_p.A409T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase			27					GTGCCTCCTGGCCATGTACTG	0.662000																								0							SO:0001583	missense			ENST00000324432.5	1	1	hg19	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	33	5.238086	0.95240	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;D;T;T;T;D	0.85955	1.9;-2.05;1.9;1.9;1.9;-2.05	5.48	4.57	0.56435	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.105806	0.64402	D	0.000005	D	0.92286	0.7553	M	0.84326	2.69	0.80722	D	1	D;P;D;P;B	0.89917	0.976;0.954;1.0;0.944;0.278	D;D;D;D;P	0.97110	0.948;0.927;1.0;0.948;0.668	D	0.92566	0.6062	10	0.51188	T	0.08	-25.3383	14.377	0.66884	0.0:0.0:0.8509:0.1491	.	365;87;365;409;456	F5GX89;Q6P2H0;E7ET89;Q86UW9-2;Q86UW9	.;.;.;.;DTX2_HUMAN	T	456;409;365;365;456;456;409	ENSP00000322885:A456T;ENSP00000305242:A409T;ENSP00000397648:A365T;ENSP00000390218:A456T;ENSP00000411986:A456T;ENSP00000392545:A409T	ENSP00000305242:A409T	A	+	1	0	AC005522.1	75969686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.765000	0.98953	1.258000	0.44101	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2	1	0	1	47	140	0	27	1	1	26	61	0	27	2		0	0	0	0	0	2	1	1	47	139	0	26	2								-20.000000	1	0	120948	49	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPA3	6119	broad.mit.edu	37	7	7679979	7679979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7679979G>A	ENST00000223129.4	-	5	1242	c.71C>T	c.(70-72)cCt>cTt	p.P24L	RPA3_ENST00000396682.2_Missense_Mutation_p.P24L|RPA3_ENST00000401447.1_5'Flank|RPA3_ENST00000406109.1_Intron	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa			6		Ovarian(82;0.0607)			GAAGCAGACAGGCTTGTCGAT	0.597000								Direct reversal of damage;Nucleotide excision repair (NER)					Colon(148;376 1816 25359 26011 31717)											0							SO:0001583	missense			ENST00000223129.4	1	1	hg19	CCDS5356.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116445	0.77323	.	.	ENSG00000106399	ENST00000223129;ENST00000396682	.	.	.	5.08	5.08	0.68730	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.100829	0.64402	D	0.000001	T	0.75925	0.3916	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69367	-0.5164	9	0.09590	T	0.72	-3.567	17.7854	0.88536	0.0:0.0:1.0:0.0	.	24	P35244	RFA3_HUMAN	L	24	.	ENSP00000223129:P24L	P	-	2	0	RPA3	7646504	1.000000	0.71417	0.938000	0.37757	0.937000	0.57800	3.764000	0.55264	2.808000	0.96608	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324778.2	1	0	1	109	492	0	134	1	1	76	142	0	134	2		0	0	0	0	0	2	1	1	108	471	0	129	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN12	5782	broad.mit.edu	37	7	77166902	77166902	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77166902G>A	ENST00000248594.6	+	1	311	c.39G>A	c.(37-39)agG>agA	p.R13R	PTPN12_ENST00000435495.2_5'Flank|PTPN12_ENST00000415482.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12			39					TCATCCAGAGGGTCCAGGCCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000248594.6	0	1	hg19	CCDS5592.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3	1	0	0	14	71	0	16	1	9.999952e-01	41	89	0	16	2		0	0	0	0	0	2	1	9.998127e-01	14	69	0	14	2								-19.999950	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.998861	0.990000	1	9.900000e-01	1
PHTF2	57157	broad.mit.edu	37	7	77569467	77569467	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77569467G>T	ENST00000248550.7	+	13	1664	c.1588G>T	c.(1588-1590)Gca>Tca	p.A530S	PHTF2_ENST00000307305.8_Missense_Mutation_p.A492S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S|PHTF2_ENST00000416283.2_Missense_Mutation_p.A496S|PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2			19					ACAACTCACAGCACATTCTGC	0.373000																								0							SO:0001583	missense			ENST00000248550.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	3.126	-0.179508	0.06380	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.67	-0.561	0.11785	.	0.372810	0.28082	N	0.016665	T	0.17023	0.0409	N	0.08118	0	0.24462	N	0.994431	B;B;B;B;B;B	0.12630	0.004;0.005;0.006;0.003;0.001;0.0	B;B;B;B;B;B	0.13407	0.002;0.007;0.009;0.003;0.002;0.001	T	0.32587	-0.9901	9	0.02654	T	1	-2.4148	11.3773	0.49735	0.5221:0.0:0.4779:0.0	.	291;492;496;530;492;492	Q8WVD6;Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	S	496;496;492;492;492;496;530	.	ENSP00000248550:A530S	A	+	1	0	PHTF2	77407403	0.888000	0.30383	0.969000	0.41365	0.995000	0.86356	0.168000	0.16622	-0.147000	0.11254	0.557000	0.71058	GCA		TCGA-IB-7651-01A-11D-2154-08	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	1	0	1	42	197	0	44	1	9.998411e-01	6	59	0	44	2		0	0	0	0	0	2	1	1	41	196	0	44	2								-19.999870	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGI2	9863	broad.mit.edu	37	7	77649134	77649134	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77649134T>G	ENST00000354212.4	-	22	4119	c.3866A>C	c.(3865-3867)aAa>aCa	p.K1289T	MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2			84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)			GTGTTCCCGTTTGATATCCCA	0.622000																								0							SO:0001583	missense			ENST00000354212.4	1	1	hg19	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	t	12.52	1.964108	0.34659	.	.	ENSG00000187391	ENST00000419488;ENST00000354212	T;T	0.10668	2.85;2.85	4.59	3.45	0.39498	.	.	.	.	.	T	0.05960	0.0155	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.007	T	0.31420	-0.9944	9	0.15499	T	0.54	.	9.518	0.39117	0.0:0.0843:0.0:0.9157	.	1275;1289	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	1275;1289	ENSP00000405766:K1275T;ENSP00000346151:K1289T	ENSP00000346151:K1289T	K	-	2	0	MAGI2	77487070	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.347000	0.65998	1.710000	0.51325	0.445000	0.29226	AAA		TCGA-IB-7651-01A-11D-2154-08	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	0	110	444	0	80	0	5.610954e-01	0	9	0	80	2		0	0	0	0	0	2	1	1	109	433	0	80	2								-20.000000	1	1	121412	1	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGI2	9863	broad.mit.edu	37	7	77756523	77756523	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77756523T>G	ENST00000354212.4	-	19	3667	c.3414A>C	c.(3412-3414)agA>agC	p.R1138S	MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2			84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)			CCTGGGGTTGTCTGTAGTCCG	0.592000																								0							SO:0001583	missense			ENST00000354212.4	1	1	hg19	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744693	0.49151	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.16073	2.37;2.37;2.37	5.33	3.52	0.40303	PDZ/DHR/GLGF (1);	0.000000	0.39544	U	0.001328	T	0.24353	0.0590	L	0.27053	0.805	0.80722	D	1	D;P;D	0.63880	0.981;0.73;0.993	D;B;D	0.72338	0.966;0.391;0.977	T	0.01323	-1.1385	10	0.41790	T	0.15	.	8.78	0.34785	0.0:0.6451:0.0:0.3549	.	1138;1124;1138	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	1124;1138;1138;1138	ENSP00000405766:R1124S;ENSP00000346151:R1138S;ENSP00000428389:R1138S	ENSP00000346151:R1138S	R	-	3	2	MAGI2	77594459	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	0.043000	0.13971	0.733000	0.32492	-0.132000	0.14878	AGA		TCGA-IB-7651-01A-11D-2154-08	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	0	0	0	50	565	0	136	0	3.546196e-01	0	15	0	136	2		0	0	0	0	0	2	1	1	49	547	0	134	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.970000	0.720000	1.000000	1.000000	0.935550	0.970000	1	8.400000e-01	1
MAGI2	9863	broad.mit.edu	37	7	77789563	77789563	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77789563C>T	ENST00000354212.4	-	16	2877	c.2624G>A	c.(2623-2625)aGt>aAt	p.S875N	MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N|MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2			84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)			AGAGCCTGGACTTCTCCCGTT	0.537000																								0							SO:0001583	missense			ENST00000354212.4	1	1	hg19	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344979	0.95807	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11712	2.84;2.84;2.75	5.51	5.51	0.81932	.	0.000000	0.42548	U	0.000685	T	0.32010	0.0815	M	0.66939	2.045	0.80722	D	1	D;D;D	0.63880	0.985;0.99;0.993	P;D;P	0.63488	0.715;0.915;0.813	T	0.00822	-1.1552	10	0.54805	T	0.06	.	19.4065	0.94649	0.0:1.0:0.0:0.0	.	875;861;875	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	N	861;875;875;875	ENSP00000405766:S861N;ENSP00000346151:S875N;ENSP00000428389:S875N	ENSP00000346151:S875N	S	-	2	0	MAGI2	77627499	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.456000	0.80751	2.595000	0.87683	0.591000	0.81541	AGT		TCGA-IB-7651-01A-11D-2154-08	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1	61	249	0	56	0	6.165294e-01	0	10	0	56	2		0	0	0	0	0	2	1	1	61	245	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGI2	9863	broad.mit.edu	37	7	77885770	77885770	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77885770G>A	ENST00000354212.4	-	10	1790	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2			84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)			GGATCAAAGGGCAAAGGGTAG	0.488000																								0							SO:0001583	missense			ENST00000354212.4	1	1	hg19	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082237	0.76528	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.93	5.05	0.67936	PDZ/DHR/GLGF (1);	0.000000	0.36482	U	0.002563	T	0.68210	0.2976	M	0.82193	2.58	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.797;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.959;0.998;0.998;1.0;0.998	T	0.74708	-0.3574	10	0.87932	D	0	.	16.3924	0.83544	0.0:0.1314:0.8686:0.0	.	350;345;513;513;513;513	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	S	513;513;513;513;345;350	ENSP00000405766:P513S;ENSP00000346151:P513S;ENSP00000428389:P513S;ENSP00000441584:P345S;ENSP00000441603:P350S	ENSP00000346151:P513S	P	-	1	0	MAGI2	77723706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.012000	0.88631	1.508000	0.48769	0.555000	0.69702	CCC		TCGA-IB-7651-01A-11D-2154-08	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1	25	139	0	42	0	4.207765e-01	0	9	0	42	2		0	0	0	0	0	2	1	9.999999e-01	24	137	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999840	0.990000	1	9.900000e-01	1
MAGI2	9863	broad.mit.edu	37	7	77973256	77973256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77973256T>C	ENST00000354212.4	-	9	1500	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G	MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G|MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2			84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)			CTGGGATGCATCCCGGGTGAA	0.443000																								0							SO:0001583	missense			ENST00000354212.4	1	1	hg19	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667297	0.88348	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.91	5.91	0.95273	PDZ/DHR/GLGF (1);	0.000000	0.37577	U	0.002025	T	0.63474	0.2514	M	0.67397	2.05	0.80722	D	1	D;P;P;P;D;D	0.76494	0.998;0.615;0.942;0.942;0.999;0.977	D;P;P;P;D;D	0.81914	0.991;0.703;0.862;0.862;0.995;0.991	T	0.66240	-0.5973	10	0.72032	D	0.01	.	15.5295	0.75942	0.0:0.0:0.0:1.0	.	253;248;416;416;416;416	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	G	416;416;416;416;248;253	ENSP00000405766:D416G;ENSP00000346151:D416G;ENSP00000428389:D416G;ENSP00000441584:D248G;ENSP00000441603:D253G	ENSP00000346151:D416G	D	-	2	0	MAGI2	77811192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	0	14	284	0	43	0	5.940909e-02	0	8	0	43	2		0	0	0	0	0	2	1	9.996891e-01	13	272	0	43	2								-4.561888	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.570000	0.320000	1.000000	0.550000	0.605244	0.570000	0	4.300000e-01	7.700000e-01
MAGI2	9863	broad.mit.edu	37	7	77975329	77975329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77975329G>A	ENST00000354212.4	-	8	1388	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S|RPL13AP17_ENST00000450028.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2			84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)			TCCAGGACAGGATTTTCAAAC	0.423000																								0							SO:0001583	missense			ENST00000354212.4	1	1	hg19	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861842	0.91433	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.36482	U	0.002563	D	0.99701	0.9886	H	0.98068	4.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.97426	1.0012	10	0.87932	D	0	.	18.8946	0.92419	0.0:0.0:1.0:0.0	.	216;211;379;379	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	S	379;379;379;379;211;216	ENSP00000405766:P379S;ENSP00000346151:P379S;ENSP00000428389:P379S;ENSP00000441584:P211S;ENSP00000441603:P216S	ENSP00000346151:P379S	P	-	1	0	MAGI2	77813265	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.693000	0.91896	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1	80	373	0	75	0	3.619074e-01	0	7	0	75	2		0	0	0	0	0	2	1	1	79	365	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGI2	9863	broad.mit.edu	37	7	78130968	78130968	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:78130968G>A	ENST00000354212.4	-	5	1144	c.891C>T	c.(889-891)gaC>gaT	p.D297D	MAGI2_ENST00000419488.1_Silent_p.D297D|MAGI2_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000522391.1_Silent_p.D297D|MAGI2_ENST00000535697.1_Silent_p.D134D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2			84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)			GTTCCTCATTGTCTTCAGGTT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000354212.4	1	1	hg19	CCDS5594.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	0	94	430	0	82	0	2.240777e-01	0	5	0	82	2		0	0	0	0	0	2	1	1	92	428	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR2	54919	broad.mit.edu	37	7	796502	796502	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:796502G>A	ENST00000297440.6	+	6	1361	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	HEATR2_ENST00000313147.5_Silent_p.T447T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2			22		Ovarian(82;0.0112)			TGAAGAAGACGCCCTCTGCCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000297440.6	1	1	hg19	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906673	0.02434	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.49	-11.0	0.00169	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.21325	N	0.99972	.	.	.	.	.	.	T	0.17745	-1.0359	4	.	.	.	-5.2294	8.587	0.33664	0.6847:0.0758:0.088:0.1516	.	.	.	.	T	249	.	.	A	+	1	0	HEATR2	763028	0.006000	0.16342	0.000000	0.03702	0.014000	0.08584	-0.928000	0.03980	-2.750000	0.00375	-0.749000	0.03505	GCC		TCGA-IB-7651-01A-11D-2154-08	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	1	83	394	0	105	1	9.981629e-01	21	26	0	105	2		0	0	0	0	0	2	1	1	82	388	0	105	2								-20.000000	1	1	121408	5	38	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNAI1	2770	broad.mit.edu	37	7	79842159	79842159	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:79842159T>A	ENST00000351004.3	+	7	1221	c.848T>A	c.(847-849)cTc>cAc	p.L283H	GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1			19					AAGAGCCCTCTCACTATATGC	0.333000																								0							SO:0001583	missense			ENST00000351004.3	1	1	hg19	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750899	0.89753	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90620	-2.7;-2.7	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99160	1.0861	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	283	P63096	GNAI1_HUMAN	H	283;231	ENSP00000343027:L283H;ENSP00000410572:L231H	.	L	+	2	0	GNAI1	79680095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.994000	0.88315	2.367000	0.80283	0.529000	0.55759	CTC		TCGA-IB-7651-01A-11D-2154-08	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	1	0	1	68	255	0	117	1	1	16	125	0	117	2		0	0	0	0	0	2	1	1	68	254	0	117	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR2	54919	broad.mit.edu	37	7	801405	801405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:801405C>T	ENST00000297440.6	+	7	1506	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2			22		Ovarian(82;0.0112)			CTACCTGGAGCGCCTGCTGCT	0.587000																								0							SO:0001583	missense			ENST00000297440.6	1	1	hg19	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.47|15.47	2.842869|2.842869	0.51057|0.51057	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.31510	.|1.49;1.49	5.38|5.38	2.45|2.45	0.29901|0.29901	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320952	.|0.33895	.|N	.|0.004444	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.22421|0.22421	0.69|0.69	0.32099|0.32099	N|N	0.590828|0.590828	.|D;D	.|0.63046	.|0.987;0.992	.|B;P	.|0.49502	.|0.409;0.613	T|T	0.24048|0.24048	-1.0171|-1.0171	5|10	.|0.45353	.|T	.|0.12	-17.9518|-17.9518	8.198|8.198	0.31409|0.31409	0.3049:0.621:0.0:0.0741|0.3049:0.621:0.0:0.0741	.|.	.|496;242	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	V|C	297|496;496;242	.|ENSP00000297440:R496C;ENSP00000321451:R496C	.|ENSP00000297440:R496C	A|R	+|+	2|1	0|0	HEATR2|HEATR2	767931|767931	0.999000|0.999000	0.42202|0.42202	0.913000|0.913000	0.36048|0.36048	0.296000|0.296000	0.27459|0.27459	1.696000|1.696000	0.37773|0.37773	0.186000|0.186000	0.20125|0.20125	0.561000|0.561000	0.74099|0.74099	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	1	17	52	0	10	1	9.998666e-01	5	48	0	10	2		0	0	0	0	0	2	1	9.999859e-01	17	52	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
SEMA3C	10512	broad.mit.edu	37	7	80374463	80374463	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:80374463G>A	ENST00000265361.3	-	18	2564	c.2003C>T	c.(2002-2004)gCt>gTt	p.A668V	SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C			34					CGTCACAACAGCCACCATTTC	0.483000																								0							SO:0001583	missense			ENST00000265361.3	1	1	hg19	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006985	0.54361	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26373	1.75;1.75;1.74	5.56	5.56	0.83823	.	0.202241	0.52532	D	0.000063	T	0.21347	0.0514	N	0.19112	0.55	0.80722	D	1	B;B	0.18310	0.027;0.016	B;B	0.16289	0.015;0.007	T	0.02942	-1.1091	10	0.51188	T	0.08	.	19.5309	0.95228	0.0:0.0:1.0:0.0	.	686;668	F5H1Z7;Q99985	.;SEM3C_HUMAN	V	668;668;686	ENSP00000265361:A668V;ENSP00000411193:A668V;ENSP00000445649:A686V	ENSP00000265361:A668V	A	-	2	0	SEMA3C	80212399	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	5.594000	0.67557	2.636000	0.89361	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	1	0	1	79	334	0	62	1	1	90	222	0	62	2		0	0	0	0	0	2	1	1	76	328	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLCCI1	113263	broad.mit.edu	37	7	8043574	8043574	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8043574G>A	ENST00000223145.5	+	2	1051	c.494G>A	c.(493-495)aGt>aAt	p.S165N	RPA3-AS1_ENST00000469183.1_3'UTR|GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1			25		Ovarian(82;0.0608)			CGGACCTCTAGTACAATAAGG	0.393000																								0							SO:0001583	missense			ENST00000223145.5	1	1	hg19	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380708	0.42207	.	.	ENSG00000106415	ENST00000223145;ENST00000414914;ENST00000430798	.	.	.	4.74	0.789	0.18607	.	0.443287	0.25866	N	0.027788	T	0.16428	0.0395	N	0.14661	0.345	0.22354	N	0.999171	B	0.06786	0.001	B	0.08055	0.003	T	0.15925	-1.0420	9	0.22706	T	0.39	-19.5099	5.3351	0.15953	0.3053:0.1403:0.5543:0.0	.	165	Q86VQ1	GLCI1_HUMAN	N	165;53;53	.	ENSP00000223145:S165N	S	+	2	0	GLCCI1	8010099	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.488000	0.45276	0.263000	0.21812	0.551000	0.68910	AGT		TCGA-IB-7651-01A-11D-2154-08	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	1	0	1	65	333	0	105	0	7.295291e-01	0	15	0	105	2		0	0	0	0	0	2	1	1	64	328	0	104	2								-20.000000	1	1	121412	1	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR2	54919	broad.mit.edu	37	7	814759	814759	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:814759C>T	ENST00000297440.6	+	11	2219	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	HEATR2_ENST00000313147.5_Silent_p.G733G|HEATR2_ENST00000403952.3_Silent_p.G158G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2			22		Ovarian(82;0.0112)			AAACCTCGGGCGGCATGACGG	0.512000											OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000297440.6	1	1	hg19	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	4.211	0.037850	0.08148	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.15	-6.33	0.01988	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38887	-0.9640	4	.	.	.	-8.5751	11.3342	0.49494	0.0:0.2364:0.6131:0.1504	.	.	.	.	W	535	.	.	R	+	1	2	HEATR2	781285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.031000	0.03308	-0.367000	0.07326	CGG		TCGA-IB-7651-01A-11D-2154-08	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	1	45	197	0	51	1	9.999709e-01	31	41	0	51	2		0	0	0	0	0	2	1	1	44	190	0	51	2								-3.385489	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ICA1	3382	broad.mit.edu	37	7	8153658	8153658	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8153658G>T	ENST00000402384.3	-	14	1613	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	ICA1_ENST00000422063.2_Silent_p.A478A|ICA1_ENST00000396675.3_Silent_p.A449A|ICA1_ENST00000406470.2_Silent_p.A449A|ICA1_ENST00000401396.1_Silent_p.A437A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000265577.7_Silent_p.A448A			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa			23		Ovarian(82;0.0612)			TCAGGTCTGAGGCAGCCTTAG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000402384.3	1	1	hg19	CCDS34602.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	1	0	1	89	332	0	80	1	1	79	134	0	80	2		0	0	0	0	0	2	1	1	88	327	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA2D1	781	broad.mit.edu	37	7	81603842	81603842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81603842G>A	ENST00000356253.5	-	25	2273	c.2018C>T	c.(2017-2019)tCg>tTg	p.S673L	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S661L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1			81				Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTTATTATCCGATATTTTCAG	0.269000																								0							SO:0001583	missense			ENST00000356253.5	1	0	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.763350|2.763350	0.49574|0.49574	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.07908	.|3.15;3.15	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23846|0.23846	0.0577|0.0577	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.56343	.|0.796	T|T	0.01159|0.01159	-1.1433|-1.1433	5|10	.|0.34782	.|T	.|0.22	-10.6814|-10.6814	17.3495|17.3495	0.87320|0.87320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|661	.|P54289-2	.|.	W|L	172|661;680;673	.|ENSP00000349320:S661L;ENSP00000348589:S673L	.|ENSP00000284088:S680L	R|S	-|-	1|2	2|0	CACNA2D1|CACNA2D1	81441778|81441778	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.218000|0.218000	0.24690|0.24690	7.034000|7.034000	0.76511|0.76511	2.408000|2.408000	0.81797|0.81797	0.591000|0.591000	0.81541|0.81541	CGG|TCG		TCGA-IB-7651-01A-11D-2154-08	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	19	83	0	21	0	8.459292e-01	0	17	0	21	2		0	0	0	0	0	2	1	9.999954e-01	19	83	0	21	2								-20.000000	1	1	121192	1	28	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999911	0.990000	1	9.900000e-01	1
CACNA2D1	781	broad.mit.edu	37	7	81964505	81964505	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81964505T>C	ENST00000356253.5	-	3	495	c.240A>G	c.(238-240)gaA>gaG	p.E80E	CACNA2D1_ENST00000423588.1_Silent_p.E80E|CACNA2D1_ENST00000356860.3_Silent_p.E80E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1			81				Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGGCTGCAATTTCTACCAGCT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000356253.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	215	885	0	212	0	9.353749e-01	0	21	0	212	2		0	0	0	0	0	2	1	1	213	863	0	209	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCLO	27445	broad.mit.edu	37	7	82453599	82453599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453599G>A	ENST00000333891.9	-	19	14886	c.14549C>T	c.(14548-14550)tCt>tTt	p.S4850F	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4850F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					TTTGATAACAGATGGCTTTGG	0.418000																								0							SO:0001583	missense			ENST00000333891.9	1	1	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916034	0.52546	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.20069	2.15;2.1	5.48	5.48	0.80851	.	.	.	.	.	T	0.39091	0.1065	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.91635	0.999;0.999;0.996;0.991	T	0.18618	-1.0331	9	0.87932	D	0	.	19.3454	0.94361	0.0:0.0:1.0:0.0	.	4850;4850;271;338	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	F	4850;4850;337	ENSP00000334319:S4850F;ENSP00000388393:S4850F	ENSP00000334319:S4850F	S	-	2	0	PCLO	82291535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.583000	0.87209	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1	30	109	0	24	1	7.655167e-01	5	7	0	24	2		0	0	0	0	0	2	1	1	30	108	0	24	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCLO	27445	broad.mit.edu	37	7	82453619	82453619	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453619G>A	ENST00000333891.9	-	19	14866	c.14529C>T	c.(14527-14529)agC>agT	p.S4843S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Silent_p.S4843S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					GGGACTGCTGGCTGCTCTGAC	0.423000																								0							SO:0001819	synonymous_variant			ENST00000333891.9	1	1	hg19	CCDS47630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	0	36	120	0	26	1	7.995795e-01	2	10	0	26	2		0	0	0	0	0	2	1	1	35	117	0	26	2								-19.999990	1	0	120920	1	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEATR2	54919	broad.mit.edu	37	7	825229	825229	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:825229G>A	ENST00000297440.6	+	13	2527	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2			22		Ovarian(82;0.0112)			CACAAGCACCGCTCGGCCACC	0.607000																								0							SO:0001583	missense			ENST00000297440.6	1	1	hg19	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487539	0.84854	.	.	ENSG00000164818	ENST00000297440;ENST00000537862;ENST00000403952	T;T	0.66460	0.27;-0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.945;0.99	T	0.82741	-0.0307	10	0.44086	T	0.13	-45.2734	15.4112	0.74923	0.0:0.0:1.0:0.0	.	836;261;582	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	H	836;582;261	ENSP00000297440:R836H;ENSP00000384884:R261H	ENSP00000297440:R836H	R	+	2	0	HEATR2	791755	1.000000	0.71417	0.988000	0.46212	0.621000	0.37620	3.835000	0.55805	2.233000	0.73108	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	1	104	399	0	82	1	1	21	84	0	82	2		0	0	0	0	0	2	1	1	104	396	0	82	2								-20.000000	1	1	121402	4	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCLO	27445	broad.mit.edu	37	7	82544139	82544139	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82544139G>T	ENST00000333891.9	-	7	13500	c.13163C>A	c.(13162-13164)aCc>aAc	p.T4388N	PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N|PCLO_ENST00000423517.2_Missense_Mutation_p.T4388N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					CTGATCCCTGGTGTCTGCAGA	0.532000																								0							SO:0001583	missense			ENST00000333891.9	1	1	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347387	0.41599	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17691	2.26;2.26	5.75	5.75	0.90469	.	.	.	.	.	T	0.42426	0.1202	M	0.65498	2.005	0.50039	D	0.999844	D;D;D	0.71674	0.988;0.998;0.998	P;D;D	0.66351	0.779;0.943;0.943	T	0.17561	-1.0365	9	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	4319;4388;4388	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	4388;4388;1108	ENSP00000334319:T4388N;ENSP00000388393:T4388N	ENSP00000334319:T4388N	T	-	2	0	PCLO	82382075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.725000	0.93324	0.655000	0.94253	ACC		TCGA-IB-7651-01A-11D-2154-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1	43	180	0	39	1	8.635679e-01	6	11	0	39	2		0	0	0	0	0	2	1	1	44	175	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCLO	27445	broad.mit.edu	37	7	82545765	82545765	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82545765C>T	ENST00000333891.9	-	7	11874	c.11537G>A	c.(11536-11538)cGa>cAa	p.R3846Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q|PCLO_ENST00000423517.2_Missense_Mutation_p.R3846Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					ACTTTCTATTCGGGTTGGTCT	0.458000																								0							SO:0001583	missense			ENST00000333891.9	1	1	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987688	0.35036	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17054	2.3;2.3	5.8	5.8	0.92144	.	.	.	.	.	T	0.44074	0.1276	M	0.65498	2.005	0.48571	D	0.999673	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.92;0.99;0.99	T	0.22208	-1.0223	9	0.87932	D	0	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	3777;3846;3846	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3846;3846;566	ENSP00000334319:R3846Q;ENSP00000388393:R3846Q	ENSP00000334319:R3846Q	R	-	2	0	PCLO	82383701	1.000000	0.71417	0.955000	0.39395	0.309000	0.27889	4.800000	0.62524	2.758000	0.94735	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1	180	741	0	156	1	4.122582e-01	4	3	0	156	2		0	0	0	0	0	2	1	1	174	706	0	155	2								-20.000000	1	1	120982	5	42	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCLO	27445	broad.mit.edu	37	7	82583261	82583261	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					ACACGGTTTCGGATAAGCTAC	0.428000																								0							SO:0001819	synonymous_variant			ENST00000333891.9	1	1	hg19	CCDS47630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1	106	550	0	119	0	7.094494e-02	1	2	0	119	2		0	0	0	0	0	2	1	1	105	543	0	118	2								-2.492339	0	1	120810	12	47	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCLO	27445	broad.mit.edu	37	7	82764246	82764246	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82764246C>A	ENST00000333891.9	-	3	2957	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	PCLO_ENST00000423517.2_Missense_Mutation_p.G874W	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					GTTGGTGACCCTTTTGGCATT	0.517000																								0							SO:0001583	missense			ENST00000333891.9	1	0	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181205	0.21787	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.25	6.07	5.17	0.71159	.	.	.	.	.	T	0.36386	0.0965	M	0.63428	1.95	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	T	0.12400	-1.0549	9	0.87932	D	0	.	11.6472	0.51267	0.125:0.8098:0.0:0.0653	.	874;874	Q9Y6V0-5;Q9Y6V0-6	.;.	W	820;874;874	ENSP00000334319:G874W;ENSP00000388393:G874W	ENSP00000334319:G874W	G	-	1	0	PCLO	82602182	0.676000	0.27567	0.997000	0.53966	0.986000	0.74619	1.218000	0.32467	1.526000	0.49068	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1	245	1072	0	221	1	2.349653e-01	3	2	0	221	2		0	0	0	0	0	2	1	1	236	1032	0	218	2								-3.066217	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA3A	10371	broad.mit.edu	37	7	83675699	83675699	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:83675699C>T	ENST00000265362.4	-	6	922	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A			53					CCCAAGAGTTCGGAAGATAGC	0.428000																								0							SO:0001583	missense			ENST00000265362.4	1	1	hg19	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818528	0.96982	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.59224	0.28;0.28	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.85099	2.735	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	T	0.81571	-0.0872	10	0.87932	D	0	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	203	Q14563	SEM3A_HUMAN	Q	203	ENSP00000265362:R203Q;ENSP00000415260:R203Q	ENSP00000265362:R203Q	R	-	2	0	SEMA3A	83513635	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.433000	0.80362	2.779000	0.95612	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	1	0	1	135	575	0	124	1	9.561838e-01	3	21	0	124	2		0	0	0	0	0	2	1	1	130	565	0	123	2								-3.152556	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA3D	223117	broad.mit.edu	37	7	84644469	84644469	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84644469A>G	ENST00000284136.6	-	14	1652	c.1609T>C	c.(1609-1611)Tat>Cat	p.Y537H	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D			73					GCTTTCCCATAAGTGTCGCAT	0.463000													Ovarian(63;442 1191 17318 29975 31528)											0							SO:0001583	missense			ENST00000284136.6	1	1	hg19	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686904	0.88639	.	.	ENSG00000153993	ENST00000284136	T	0.43294	0.95	5.75	5.75	0.90469	Semaphorin/CD100 antigen (1);	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67484	-0.5659	10	0.52906	T	0.07	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	537	O95025	SEM3D_HUMAN	H	537	ENSP00000284136:Y537H	ENSP00000284136:Y537H	Y	-	1	0	SEMA3D	84482405	1.000000	0.71417	0.926000	0.36857	0.975000	0.68041	9.339000	0.96797	2.196000	0.70406	0.459000	0.35465	TAT		TCGA-IB-7651-01A-11D-2154-08	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	0	0	1	97	377	1	83	0	0	0	1	1	83	2		0	0	0	0	0	2	1	1	96	372	1	83	19								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA3D	223117	broad.mit.edu	37	7	84651710	84651710	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651710T>C	ENST00000284136.6	-	11	1454	c.1411A>G	c.(1411-1413)Aca>Gca	p.T471A	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D			73					AGCTTACCTGTTCCAAGAAAC	0.328000													Ovarian(63;442 1191 17318 29975 31528)											0							SO:0001583	missense			ENST00000284136.6	1	1	hg19	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094341	0.76870	.	.	ENSG00000153993	ENST00000284136	T	0.33216	1.42	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.74022	-0.3798	10	0.87932	D	0	.	15.9171	0.79527	0.0:0.0:0.0:1.0	.	471	O95025	SEM3D_HUMAN	A	471	ENSP00000284136:T471A	ENSP00000284136:T471A	T	-	1	0	SEMA3D	84489646	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	8.040000	0.89188	2.152000	0.67230	0.455000	0.32223	ACA		TCGA-IB-7651-01A-11D-2154-08	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	0	0	0	165	643	0	151	0	4.220061e-02	0	2	0	151	2		0	0	0	0	0	2	1	1	160	631	0	149	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA3D	223117	broad.mit.edu	37	7	84651735	84651735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651735G>A	ENST00000284136.6	-	11	1429	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D			73					CATCGTACTGGCCATCTTCTG	0.383000													Ovarian(63;442 1191 17318 29975 31528)											0							SO:0001819	synonymous_variant			ENST00000284136.6	1	1	hg19	CCDS34676.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	1	0	1	202	777	0	188	0	0	0	1	0	188	2		0	0	0	0	0	2	1	1	197	764	0	187	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA3D	223117	broad.mit.edu	37	7	84666282	84666282	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84666282G>T	ENST00000284136.6	-	10	1157	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D			73					TGAGCATATGGACCATTAAAA	0.413000													Ovarian(63;442 1191 17318 29975 31528)											0							SO:0001583	missense			ENST00000284136.6	1	1	hg19	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067582	0.76301	.	.	ENSG00000153993	ENST00000284136	T	0.24151	1.87	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.046255	0.85682	D	0.000000	T	0.62600	0.2441	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.69760	-0.5058	10	0.87932	D	0	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	372	O95025	SEM3D_HUMAN	T	372	ENSP00000284136:P372T	ENSP00000284136:P372T	P	-	1	0	SEMA3D	84504218	1.000000	0.71417	0.947000	0.38551	0.396000	0.30629	9.773000	0.98989	2.788000	0.95919	0.585000	0.79938	CCA		TCGA-IB-7651-01A-11D-2154-08	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	1	0	1	93	361	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	1	93	359	0	59	2								-3.738216	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM3	2913	broad.mit.edu	37	7	86468560	86468560	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86468560C>T	ENST00000361669.2	+	4	2829	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3			109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				GACGCCTGGGCCATTGGCCCA	0.498000													GBM(52;969 1098 3139 52280)											0							SO:0001583	missense			ENST00000361669.2	1	1	hg19	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736591	0.89482	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89123	-2.47;-2.41;-2.25	6.16	6.16	0.99307	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.89414	3.03	0.80722	D	1	D;D;D	0.69078	0.974;0.994;0.997	P;D;D	0.68943	0.677;0.961;0.96	D	0.95375	0.8468	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	169;449;577	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	V	577;169;449	ENSP00000355316:A577V;ENSP00000444064:A169V;ENSP00000441407:A449V	ENSP00000355316:A577V	A	+	2	0	GRM3	86306496	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2	0	0	1	75	317	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	1	72	316	0	74	2								-3.507171	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRM3	2913	broad.mit.edu	37	7	86469049	86469049	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86469049C>T	ENST00000361669.2	+	4	3318	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3			109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				ATGTTGATCTCTCTTACCTAC	0.468000													GBM(52;969 1098 3139 52280)											0							SO:0001583	missense			ENST00000361669.2	1	1	hg19	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964456	0.74131	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88354	-2.37;-2.37;-2.37	5.54	5.54	0.83059	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95901	0.8915	10	0.72032	D	0.01	.	18.4662	0.90755	0.0:1.0:0.0:0.0	.	332;612;740	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	F	740;332;612	ENSP00000355316:S740F;ENSP00000444064:S332F;ENSP00000441407:S612F	ENSP00000355316:S740F	S	+	2	0	GRM3	86306985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.603000	0.88011	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2	1	0	0	30	322	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	30	315	0	64	2								-3.318794	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.700000	1.000000	1.000000	0.944748	0.990000	1	8.400000e-01	1
KIAA1324L	222223	broad.mit.edu	37	7	86537040	86537040	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86537040A>G	ENST00000450689.2	-	18	2689	c.2504T>C	c.(2503-2505)gTg>gCg	p.V835A	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like			44	Esophageal squamous(14;0.0058)				CCTCATTTTCACAGCAGTTGA	0.343000																								0							SO:0001583	missense			ENST00000450689.2	1	1	hg19	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952311	0.92660	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.97	5.97	0.96955	Mannose-6-phosphate receptor, binding (1);	0.113441	0.64402	D	0.000010	T	0.19805	0.0476	M	0.78801	2.425	0.80722	D	1	P;P;P	0.52170	0.951;0.925;0.925	P;B;B	0.55112	0.769;0.435;0.435	T	0.00402	-1.1762	10	0.40728	T	0.16	.	13.8398	0.63432	1.0:0.0:0.0:0.0	.	835;595;668	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	A	835;595;764;668	ENSP00000413445:V835A;ENSP00000297222:V595A;ENSP00000397377:V764A;ENSP00000402390:V668A	ENSP00000297222:V595A	V	-	2	0	KIAA1324L	86374976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.130000	0.89598	2.289000	0.77006	0.459000	0.35465	GTG		TCGA-IB-7651-01A-11D-2154-08	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	1	0	1	66	303	0	68	0	9.081020e-01	0	21	0	68	2		0	0	0	0	0	2	1	1	66	301	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMTF1	9988	broad.mit.edu	37	7	86794362	86794362	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86794362G>T	ENST00000394703.5	+	5	668	c.105G>T	c.(103-105)caG>caT	p.Q35H	DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1			16	Esophageal squamous(14;0.0058)				ACTGCCCTCAGAATGGTAGGA	0.438000																								0							SO:0001583	missense			ENST00000394703.5	1	1	hg19	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991491	0.74703	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000446796;ENST00000425406;ENST00000411766;ENST00000414630;ENST00000453049;ENST00000448598;ENST00000449088;ENST00000430405;ENST00000394703;ENST00000434534;ENST00000423590;ENST00000432366;ENST00000412139;ENST00000425705	T;T;T	0.51817	0.69;0.8;0.69	5.29	4.4	0.53042	.	0.224659	0.46145	N	0.000314	T	0.48892	0.1525	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.51220	-0.8733	10	0.62326	D	0.03	-2.0242	5.0045	0.14280	0.1599:0.0:0.6568:0.1833	.	35	Q9Y222	DMTF1_HUMAN	H	35	ENSP00000332171:Q35H;ENSP00000402627:Q35H;ENSP00000378193:Q35H	ENSP00000332171:Q35H	Q	+	3	2	DMTF1	86632298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.779000	0.38624	1.354000	0.45846	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	1	0	1	36	112	0	40	1	9.997594e-01	7	37	0	40	2		0	0	0	0	0	2	1	1	36	110	0	40	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMTF1	9988	broad.mit.edu	37	7	86817581	86817581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86817581G>A	ENST00000394703.5	+	15	1938	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	DMTF1_ENST00000414194.2_Missense_Mutation_p.A193T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000413276.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1			16	Esophageal squamous(14;0.0058)				TAGCCCCATGGCAGCATTGCA	0.423000																								0							SO:0001583	missense			ENST00000394703.5	1	1	hg19	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253310	0.10185	.	.	ENSG00000135164	ENST00000331242;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T	0.44881	0.94;0.94;0.94;0.91	5.57	-3.61	0.04556	.	0.626890	0.18356	N	0.143710	T	0.17280	0.0415	N	0.03608	-0.345	0.41702	D	0.989404	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.09590	T	0.72	-0.0915	16.8454	0.85979	0.3261:0.0:0.6739:0.0	.	459	Q9Y222	DMTF1_HUMAN	T	459;371;459;193	ENSP00000332171:A459T;ENSP00000412532:A371T;ENSP00000378193:A459T;ENSP00000415910:A193T	ENSP00000332171:A459T	A	+	1	0	DMTF1	86655517	0.995000	0.38212	0.961000	0.40146	0.950000	0.60333	0.446000	0.21694	-0.838000	0.04218	-0.345000	0.07892	GCA		TCGA-IB-7651-01A-11D-2154-08	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	1	0	1	163	595	0	144	1	9.999910e-01	19	43	0	144	2		0	0	0	0	0	2	1	1	159	579	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMTF1	9988	broad.mit.edu	37	7	86823161	86823161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86823161G>A	ENST00000394703.5	+	18	2334	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	DMTF1_ENST00000414194.2_Missense_Mutation_p.V325I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I|TMEM243_ENST00000481425.1_5'Flank	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1			16	Esophageal squamous(14;0.0058)				AGAACTGACAGTCGATAGTGA	0.448000																								0							SO:0001583	missense			ENST00000394703.5	1	1	hg19	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328568	0.60743	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.58358	0.48;0.34;0.5;0.48;0.49	6.03	5.16	0.70880	.	0.144170	0.44902	N	0.000409	T	0.40347	0.1113	L	0.27053	0.805	0.43118	D	0.994835	B	0.16603	0.018	B	0.13407	0.009	T	0.19289	-1.0310	10	0.27785	T	0.31	-0.0123	14.2613	0.66088	0.0706:0.0:0.9294:0.0	.	591	Q9Y222	DMTF1_HUMAN	I	591;521;503;591;325	ENSP00000332171:V591I;ENSP00000402627:V521I;ENSP00000412532:V503I;ENSP00000378193:V591I;ENSP00000415910:V325I	ENSP00000332171:V591I	V	+	1	0	DMTF1	86661097	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.060000	0.57477	1.558000	0.49541	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	1	0	1	93	448	0	109	1	9.997464e-01	15	45	0	109	2		0	0	0	0	0	2	1	1	93	433	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CROT	54677	broad.mit.edu	37	7	87004992	87004992	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87004992G>T	ENST00000331536.3	+	8	886	c.701G>T	c.(700-702)gGa>gTa	p.G234V	CROT_ENST00000419147.2_Missense_Mutation_p.G262V|CROT_ENST00000442291.1_Missense_Mutation_p.G234V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase			37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)			L-Carnitine(DB00583)	GAACCTGATGGACCTGGGATT	0.383000																								0							SO:0001583	missense			ENST00000331536.3	1	1	hg19	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735886	0.89482	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90004	-2.6;-2.6;-2.6	6.02	6.02	0.97574	.	0.046628	0.85682	D	0.000000	D	0.95642	0.8583	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.983	D	0.94444	0.7661	10	0.34782	T	0.22	-26.1183	18.7212	0.91694	0.0:0.0:1.0:0.0	.	262;234	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	262;234;234	ENSP00000413575:G262V;ENSP00000331981:G234V;ENSP00000411983:G234V	ENSP00000331981:G234V	G	+	2	0	CROT	86842928	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	7.890000	0.87313	2.865000	0.98341	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	1	0	0	42	383	0	92	1	7.617165e-01	2	25	0	92	2		0	0	0	0	0	2	1	1	42	376	0	89	2								-13.775160	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.860000	1.000000	1.000000	0.989577	0.990000	1	9.900000e-01	1
CROT	54677	broad.mit.edu	37	7	87011306	87011306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87011306G>A	ENST00000331536.3	+	11	1244	c.1059G>A	c.(1057-1059)tgG>tgA	p.W353*	CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*|CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase			37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)			L-Carnitine(DB00583)	AAGGAAGATGGAAGGTATGTT	0.313000																								0							SO:0001587	stop_gained			ENST00000331536.3	0	1	hg19	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	37	6.062868	0.97246	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.8503	19.4212	0.94721	0.0:0.0:1.0:0.0	.	.	.	.	X	381;353;353	.	ENSP00000331981:W353X	W	+	3	0	CROT	86849242	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.160000	0.94734	2.674000	0.91012	0.467000	0.42956	TGG		TCGA-IB-7651-01A-11D-2154-08	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	1	0	1	55	223	0	32	0	9.983204e-01	1	41	0	32	2		0	0	0	0	0	2	1	1	55	220	0	32	2								-3.512675	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCB4	5244	broad.mit.edu	37	7	87047935	87047935	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87047935T>C	ENST00000265723.4	-	20	2507	c.2396A>G	c.(2395-2397)gAc>gGc	p.D799G	ABCB4_ENST00000358400.3_Splice_Site_p.D799G|ABCB4_ENST00000453593.1_Splice_Site_p.D799G|ABCB4_ENST00000545634.1_Splice_Site_p.D799G|ABCB4_ENST00000359206.3_Splice_Site_p.D799G	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4			77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)			Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CCAGCTCATGTCCTATGGCAT	0.418000																								0							SO:0001630	splice_region_variant			ENST00000265723.4	1	0	hg19	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415147	0.83449	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.58	5.58	0.84498	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096631	0.64402	D	0.000001	D	0.92427	0.7596	H	0.94306	3.52	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	D;D;D	0.75484	0.951;0.975;0.986	D	0.94445	0.7662	10	0.87932	D	0	-19.2171	15.7496	0.77972	0.0:0.0:0.0:1.0	.	799;799;799	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	G	799	ENSP00000352135:D799G;ENSP00000351172:D799G;ENSP00000265723:D799G;ENSP00000392983:D799G;ENSP00000437465:D799G	ENSP00000265723:D799G	D	-	2	0	ABCB4	86885871	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.832000	0.75329	2.117000	0.64856	0.528000	0.53228	GAC		TCGA-IB-7651-01A-11D-2154-08	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	1	0	0	32	150	0	45	0	0	0	1	0	45	2		0	0	0	0	0	2	1	1	31	149	0	45	2								-18.895450	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ABCB4	5244	broad.mit.edu	37	7	87056075	87056075	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87056075G>A	ENST00000265723.4	-	16	2166	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T|ABCB4_ENST00000545634.1_Silent_p.T685T|ABCB4_ENST00000359206.3_Silent_p.T685T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4			77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)			Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CAAGTCCATCGGTTTCCACAT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000265723.4	1	1	hg19	CCDS5606.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	1	0	1	77	261	0	53	0	3.240747e-01	0	5	0	53	2		0	0	0	0	0	2	1	1	75	253	0	52	2								-3.640176	1	1	121406	4	33	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCB1	5243	broad.mit.edu	37	7	87174266	87174266	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87174266C>A	ENST00000265724.3	-	17	2354	c.1937G>T	c.(1936-1938)aGt>aTt	p.S646I	ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1			111	Esophageal squamous(14;0.00164)			Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATCAATTTCACTTTTGGATTC	0.363000																								0							SO:0001583	missense			ENST00000265724.3	1	1	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804349	0.31869	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88124	-2.32;-2.34	5.75	1.3	0.21679	.	2.226270	0.01211	N	0.007857	T	0.81791	0.4897	L	0.43923	1.385	0.09310	N	1	B;B	0.27068	0.053;0.167	B;B	0.21546	0.035;0.025	T	0.63712	-0.6575	10	0.38643	T	0.18	-0.0858	3.9517	0.09372	0.17:0.4676:0.0:0.3624	.	582;646	B5AK60;P08183	.;MDR1_HUMAN	I	427;646;582	ENSP00000265724:S646I;ENSP00000444095:S582I	ENSP00000265724:S646I	S	-	2	0	ABCB1	87012202	0.000000	0.05858	0.418000	0.26571	0.993000	0.82548	-1.124000	0.03260	0.341000	0.23771	0.650000	0.86243	AGT		TCGA-IB-7651-01A-11D-2154-08	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1	51	247	0	47	0	9.895864e-01	0	37	0	47	2		0	0	0	0	0	2	1	1	51	238	0	47	2								-20.000000	1	1	121412	23	43	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCB1	5243	broad.mit.edu	37	7	87195518	87195518	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87195518A>C	ENST00000265724.3	-	8	987	c.570T>G	c.(568-570)atT>atG	p.I190M	ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1			111	Esophageal squamous(14;0.00164)			Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGAACATTCCAATTTTGTCAC	0.368000																								0							SO:0001583	missense			ENST00000265724.3	1	1	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985152	0.35036	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.91068	-2.78;-2.78	5.86	-2.1	0.07210	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.151959	0.64402	D	0.000017	D	0.90215	0.6941	L	0.39245	1.2	0.38962	D	0.958578	B;B	0.30211	0.273;0.198	B;P	0.54499	0.356;0.754	T	0.82559	-0.0397	10	0.35671	T	0.21	-10.6385	7.6401	0.28288	0.4865:0.1195:0.3941:0.0	.	126;190	B5AK60;P08183	.;MDR1_HUMAN	M	190;126	ENSP00000265724:I190M;ENSP00000444095:I126M	ENSP00000265724:I190M	I	-	3	3	ABCB1	87033454	0.981000	0.34729	0.992000	0.48379	0.990000	0.78478	0.350000	0.20079	-0.349000	0.08274	-0.290000	0.09829	ATT		TCGA-IB-7651-01A-11D-2154-08	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1	87	404	0	88	0	9.562961e-01	0	26	0	88	2		0	0	0	0	0	2	1	1	85	396	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM22	53616	broad.mit.edu	37	7	87780610	87780610	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87780610A>G	ENST00000265727.7	+	20	1735	c.1656A>G	c.(1654-1656)agA>agG	p.R552R	ADAM22_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000398204.4_Silent_p.R552R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22			53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)		CCAGAGATAGACAATGCAAAT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000265727.7	1	1	hg19	CCDS47637.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	1	0	1	62	284	0	59	0	9.504038e-01	0	25	0	59	2		0	0	0	0	0	2	1	1	61	282	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRI	6717	broad.mit.edu	37	7	87838718	87838718	+	Silent	SNP	G	G	A	rs150714131	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87838718G>A	ENST00000265729.2	-	6	499	c.447C>T	c.(445-447)agC>agT	p.S149S	SRI_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000490437.1_Silent_p.S106S|SRI_ENST00000431660.1_Silent_p.S134S|SRI_ENST00000394641.3_Silent_p.S134S	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin			5	Esophageal squamous(14;0.00202)				TTCCATTGGTGCTGTATCGTT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000265729.2	1	1	hg19	CCDS5612.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	1	0	0	70	243	0	63	1	1	315	630	0	63	2		0	0	0	0	0	2	1	1	69	238	0	62	2								-4.175390	1	1	121412	13	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NXPH1	30010	broad.mit.edu	37	7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1			17		Ovarian(82;0.0628)			TGAAAAGGTTGACAAGGCTAC	0.433000																								0							SO:0001583	missense			ENST00000405863.1	1	1	hg19	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821158	0.71028	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.043023	0.85682	D	0.000000	T	0.64605	0.2613	L	0.46157	1.445	0.80722	D	1	B	0.17667	0.023	B	0.27262	0.078	T	0.57046	-0.7878	9	0.18276	T	0.48	-15.4457	20.6208	0.99490	0.0:0.0:1.0:0.0	.	202	P58417	NXPH1_HUMAN	N	202;85	.	ENSP00000384551:D202N	D	+	1	0	NXPH1	8757712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	1	0	1	34	101	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	1	33	99	0	18	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STEAP4	79689	broad.mit.edu	37	7	87912325	87912325	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87912325A>C	ENST00000380079.4	-	3	716	c.615T>G	c.(613-615)taT>taG	p.Y205*	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4			15	Esophageal squamous(14;0.00802)				CAGCAGACAAATAGAAGGGGA	0.388000																								0							SO:0001587	stop_gained			ENST00000380079.4	0	1	hg19	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205892	0.79127	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	.	.	.	6.08	-2.39	0.06602	.	0.397244	0.30800	N	0.008860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0254	4.0244	0.09680	0.4369:0.1028:0.3604:0.0999	.	.	.	.	X	205	.	ENSP00000369419:Y205X	Y	-	3	2	STEAP4	87750261	0.001000	0.12720	0.996000	0.52242	0.971000	0.66376	0.360000	0.20250	-0.059000	0.13154	0.482000	0.46254	TAT		TCGA-IB-7651-01A-11D-2154-08	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	1	0	1	63	303	0	75	0	8.097599e-02	0	3	0	75	2		0	0	0	0	0	2	1	1	60	294	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUN1	23353	broad.mit.edu	37	7	881707	881707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:881707C>T	ENST00000405266.1	+	3	415	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000456758.2_Missense_Mutation_p.R189W			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1			30					TGTGACTCGACGGCCTCCTGT	0.557000																								0							SO:0001583	missense			ENST00000405266.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.89	3.248255	0.59103	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000439679;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000450881	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.55	2.37	0.29283	.	1.239010	0.05371	N	0.535383	T	0.62307	0.2417	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D	0.89917	0.964;1.0;1.0;0.993;0.98	P;D;D;P;P	0.75484	0.536;0.939;0.986;0.685;0.502	T	0.35001	-0.9806	10	0.54805	T	0.06	-19.1256	4.5681	0.12196	0.3475:0.4667:0.1049:0.0809	.	131;131;152;81;131	E9PDU4;E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.;.	W	189;81;152;131;131;131;131;131;131;131;81;106	ENSP00000388743:R189W;ENSP00000374225:R81W;ENSP00000395952:R152W;ENSP00000413439:R131W;ENSP00000388430:R131W;ENSP00000413188:R131W;ENSP00000384116:R131W;ENSP00000384015:R131W;ENSP00000383947:R131W;ENSP00000392309:R81W;ENSP00000392595:R106W	ENSP00000297445:R131W	R	+	1	2	SUN1	848233	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.225000	0.09151	0.668000	0.31126	0.563000	0.77884	CGG		TCGA-IB-7651-01A-11D-2154-08	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	1	0	1	56	231	0	53	1	1	41	83	0	53	2		0	0	0	0	0	2	1	1	57	228	0	52	2								-20.000000	1	1	121036	8	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF804B	219578	broad.mit.edu	37	7	88963589	88963589	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:88963589A>G	ENST00000333190.4	+	4	1902	c.1293A>G	c.(1291-1293)gcA>gcG	p.A431A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	p.A431A(1)		144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)		TAAAAGAAGCATGTACCCATA	0.388000										HNSCC(36;0.09)														1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000333190.4	1	1	hg19	CCDS5613.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	1	0	1	69	290	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	67	287	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUN1	23353	broad.mit.edu	37	7	897557	897557	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:897557A>C	ENST00000405266.1	+	14	1622	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T	SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T|SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T|SUN1_ENST00000456758.2_Missense_Mutation_p.K685T			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1			30					CGACACGTGAAGACCGGCTGT	0.478000																								0							SO:0001583	missense			ENST00000405266.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.11|13.11	2.138399|2.138399	0.37728|0.37728	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.27557	.|2.05;2.07;2.08;2.08;2.08;2.07;1.73;1.66	5.15|5.15	-0.28|-0.28	0.12886|0.12886	.|.	.|0.638636	.|0.17424	.|N	.|0.174706	T|T	0.41073|0.41073	0.1143|0.1143	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	.|P;B;P;D;P;P	.|0.59767	.|0.865;0.159;0.722;0.986;0.868;0.953	.|P;B;P;P;B;P	.|0.60949	.|0.675;0.379;0.488;0.881;0.316;0.766	T|T	0.21827|0.21827	-1.0234|-1.0234	5|10	.|0.66056	.|D	.|0.02	-14.0397|-14.0397	5.5309|5.5309	0.16985|0.16985	0.6499:0.1335:0.2167:0.0|0.6499:0.1335:0.2167:0.0	.|.	.|294;393;496;685;523;413	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	D|T	344|685;413;393;533;496;523;413;421;294	.|ENSP00000388743:K685T;ENSP00000374225:K413T;ENSP00000413439:K393T;ENSP00000384116:K533T;ENSP00000384015:K496T;ENSP00000392309:K413T;ENSP00000409909:K421T;ENSP00000389313:K294T	.|ENSP00000297445:K523T	E|K	+|+	3|2	2|0	SUN1|SUN1	864083|864083	0.101000|0.101000	0.21875|0.21875	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.341000|0.341000	0.19909|0.19909	-0.214000|-0.214000	0.10078|0.10078	-0.274000|-0.274000	0.10170|0.10170	GAA|AAG		TCGA-IB-7651-01A-11D-2154-08	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	1	0	1	75	846	0	165	1	9.999999e-01	41	220	0	165	2		0	0	0	0	0	2	1	1	75	819	0	163	2								-17.308670	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.960000	0.760000	1.000000	1.000000	0.943446	0.960000	1	8.600000e-01	1
STEAP2	261729	broad.mit.edu	37	7	89861714	89861714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861714C>T	ENST00000287908.3	+	5	1642	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394632.1_Intron	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase			15	all_hematologic(106;0.112)				TGGATGGAAACGAGCTTTTGA	0.363000																								0							SO:0001587	stop_gained			ENST00000287908.3	0	1	hg19	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.249134	0.97412	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394624;ENST00000394621;ENST00000394629	.	.	.	5.77	3.79	0.43588	.	0.059090	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0958	13.5431	0.61686	0.3917:0.6083:0.0:0.0	.	.	.	.	X	417	.	ENSP00000287908:R417X	R	+	1	2	STEAP2	89699650	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.770000	0.55310	1.433000	0.47394	0.644000	0.83932	CGA		TCGA-IB-7651-01A-11D-2154-08	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	1	0	1	28	142	0	29	1	9.981062e-01	11	42	0	29	2		0	0	0	0	0	2	1	1	28	138	0	29	2								-16.098640	1	0	121410	1	25	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
STEAP2	261729	broad.mit.edu	37	7	89861731	89861731	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861731G>A	ENST00000287908.3	+	5	1659	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000394622.2_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000394632.1_Intron	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase			15	all_hematologic(106;0.112)				TTGAGGAAGAGTACTACAGAT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000287908.3	1	1	hg19	CCDS5615.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	1	0	0	10	172	0	38	1	8.220543e-01	8	49	0	38	2		0	0	0	0	0	2	1	9.967845e-01	10	169	0	38	2								-13.402930	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.680000	0.340000	1.000000	1.000000	0.698594	0.680000	0	4.900000e-01	9.400000e-01
C7orf63	0	broad.mit.edu	37	7	89915597	89915597	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89915597A>C	ENST00000389297.4	+	14	1791	c.1540A>C	c.(1540-1542)Atc>Ctc	p.I514L	C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L|C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN				37					CATACCAGGAATCTTTAAAAA	0.299000																								0							SO:0001583	missense			ENST00000389297.4	1	1	hg19	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491633	0.44249	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.93	2.46	0.29980	Armadillo-type fold (1);	0.101637	0.64402	D	0.000004	T	0.31327	0.0793	M	0.75264	2.295	0.38967	D	0.958667	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.15870	0.014;0.004;0.002	T	0.15378	-1.0439	10	0.66056	D	0.02	-0.162	7.2354	0.26067	0.7758:0.1445:0.0797:0.0	.	496;514;514	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	L	514;514;496;397;97	ENSP00000373948:I514L;ENSP00000321753:I514L;ENSP00000419549:I496L;ENSP00000392365:I397L;ENSP00000391571:I97L	ENSP00000321753:I514L	I	+	1	0	C7orf63	89753533	1.000000	0.71417	0.914000	0.36105	0.990000	0.78478	3.217000	0.51184	0.329000	0.23460	0.460000	0.39030	ATC		TCGA-IB-7651-01A-11D-2154-08	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4	1	0	0	24	231	0	35	0	7.919349e-02	0	5	0	35	2		0	0	0	0	0	2	1	9.999997e-01	24	229	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.740000	1.000000	1.000000	0.968918	0.990000	1	9.200000e-01	1
GTPBP10	85865	broad.mit.edu	37	7	89982181	89982181	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89982181G>A	ENST00000222511.6	+	2	151	c.85G>A	c.(85-87)Gga>Aga	p.G29R	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)			10					AGGATCCGGTGGAATGGGTTA	0.393000											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001583	missense			ENST00000222511.6	1	1	hg19	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592124	0.66219	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	6.07	5.19	0.71726	GTP1/OBG subdomain (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	H	0.98918	4.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.92475	0.5988	9	.	.	.	-7.0466	17.414	0.87494	0.0:0.1247:0.8753:0.0	.	29;29;20;46	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	R	20;46;29;29;29	ENSP00000405697:G20R;ENSP00000389510:G46R;ENSP00000257659:G29R;ENSP00000222511:G29R;ENSP00000416596:G29R	.	G	+	1	0	GTPBP10	89820117	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.145000	0.94634	1.565000	0.49641	-0.283000	0.09986	GGA		TCGA-IB-7651-01A-11D-2154-08	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	0	0	0	10	296	0	47	1	6.338821e-01	2	61	0	47	2		0	0	0	0	0	2	1	9.966915e-01	9	292	0	46	2								-10.507960	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.400000	0.200000	1.000000	0.390000	0.448715	0.400000	0	2.900000e-01	5.700000e-01
CDK14	5218	broad.mit.edu	37	7	90741870	90741870	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90741870A>G	ENST00000380050.3	+	13	1299	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	CDK14_ENST00000406263.1_Missense_Mutation_p.N344D|CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000265741.3_Missense_Mutation_p.N372D			O94921	CDK14_HUMAN	cyclin-dependent kinase 14			32					CAGCTATGTGAACCATGCAGA	0.443000													GBM(83;1228 1256 8311 16577 31299)											0							SO:0001583	missense			ENST00000380050.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	9.628	1.135592	0.21123	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.97	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057435	0.64402	D	0.000003	T	0.39989	0.1099	N	0.11724	0.165	0.39852	D	0.973252	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.12156	0.007;0.001;0.007	T	0.21965	-1.0230	10	0.35671	T	0.21	-17.852	7.7303	0.28783	0.8074:0.0:0.0671:0.1255	.	261;372;390	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	D	390;372;344;261	ENSP00000369390:N390D;ENSP00000265741:N372D;ENSP00000385034:N344D;ENSP00000398936:N261D	ENSP00000265741:N372D	N	+	1	0	CDK14	90579806	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.179000	0.65043	1.056000	0.40484	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	1	0	1	178	743	0	158	0	9.999788e-01	0	65	0	158	2		0	0	0	0	0	2	1	1	177	726	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD1	8321	broad.mit.edu	37	7	90895309	90895309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895309G>A	ENST00000287934.2	+	1	1527	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1			24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)		CTACATCGCCGGCTTCCTCCT	0.632000																								0							SO:0001583	missense			ENST00000287934.2	1	1	hg19	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524564	0.85600	.	.	ENSG00000157240	ENST00000287934	D	0.81996	-1.56	4.5	4.5	0.54988	GPCR, family 2-like (1);	0.080290	0.48286	D	0.000199	D	0.92221	0.7533	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92864	0.6308	10	0.46703	T	0.11	.	17.3733	0.87384	0.0:0.0:1.0:0.0	.	372	Q9UP38	FZD1_HUMAN	S	372	ENSP00000287934:G372S	ENSP00000287934:G372S	G	+	1	0	FZD1	90733245	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.729000	0.84864	2.327000	0.79052	0.407000	0.27541	GGC		TCGA-IB-7651-01A-11D-2154-08	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	0	0	0	23	536	0	99	0	7.554863e-01	0	65	0	99	2		0	0	0	0	0	2	1	9.999993e-01	23	529	0	97	2								-3.273989	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.490000	0.320000	1.000000	0.480000	0.529794	0.490000	0	4.000000e-01	6.300000e-01
FZD1	8321	broad.mit.edu	37	7	90895465	90895465	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895465T>C	ENST00000287934.2	+	1	1683	c.1270T>C	c.(1270-1272)Tcg>Ccg	p.S424P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1			24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)		GGTGATCCTGTCGCTCACCTG	0.607000																								0							SO:0001583	missense			ENST00000287934.2	1	1	hg19	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897069	0.52121	.	.	ENSG00000157240	ENST00000287934	D	0.83837	-1.77	4.46	4.46	0.54185	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000112	D	0.90421	0.7001	M	0.87971	2.92	0.44789	D	0.997797	D	0.57257	0.979	P	0.59825	0.864	D	0.92270	0.5824	10	0.87932	D	0	.	13.8883	0.63721	0.0:0.0:0.0:1.0	.	424	Q9UP38	FZD1_HUMAN	P	424	ENSP00000287934:S424P	ENSP00000287934:S424P	S	+	1	0	FZD1	90733401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.925000	0.48884	1.877000	0.54381	0.334000	0.21626	TCG		TCGA-IB-7651-01A-11D-2154-08	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	0	0	0	27	384	0	61	0	9.058866e-01	1	59	0	61	2		0	0	0	0	0	2	1	1	27	379	0	60	2								-7.315469	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.790000	0.530000	1.000000	1.000000	0.798513	0.790000	0	6.400000e-01	9.700000e-01
FZD1	8321	broad.mit.edu	37	7	90895700	90895700	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895700G>A	ENST00000287934.2	+	1	1918	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1			24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)		CTGTTTATCGGCACGTCCTTT	0.602000																								0							SO:0001583	missense			ENST00000287934.2	1	1	hg19	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582437	0.86748	.	.	ENSG00000157240	ENST00000287934	D	0.92249	-3.0	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.97567	0.9203	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98994	1.0809	10	0.87932	D	0	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	502	Q9UP38	FZD1_HUMAN	D	502	ENSP00000287934:G502D	ENSP00000287934:G502D	G	+	2	0	FZD1	90733636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.491000	0.84063	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	1	0	1	197	798	0	150	1	9.999997e-01	3	83	0	150	2		0	0	0	0	0	2	1	1	196	793	0	150	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD1	8321	broad.mit.edu	37	7	90895964	90895964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895964C>T	ENST00000287934.2	+	1	2182	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1			24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)		GGCGGAGGCGCCCCGCCGCAC	0.647000																								0							SO:0001583	missense			ENST00000287934.2	1	1	hg19	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633820	0.29068	.	.	ENSG00000157240	ENST00000287934	T	0.76839	-1.05	4.73	2.75	0.32379	GPCR, family 2-like (1);	0.677726	0.12176	N	0.492570	T	0.62986	0.2473	L	0.34521	1.04	0.25896	N	0.983419	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	10	0.23891	T	0.37	.	5.3639	0.16103	0.0:0.6788:0.2083:0.1129	.	590	Q9UP38	FZD1_HUMAN	V	590	ENSP00000287934:A590V	ENSP00000287934:A590V	A	+	2	0	FZD1	90733900	0.400000	0.25295	0.984000	0.44739	0.993000	0.82548	0.298000	0.19120	1.312000	0.45043	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	1	0	1	48	260	0	47	1	9.998750e-01	4	71	0	47	2		0	0	0	0	0	2	1	1	46	239	0	40	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FZD1	8321	broad.mit.edu	37	7	90896026	90896026	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90896026C>A	ENST00000287934.2	+	1	2244	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1			24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)		CCTTATGACGCTGATCGTGGG	0.617000																								0							SO:0001583	missense			ENST00000287934.2	1	1	hg19	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572397	0.45798	.	.	ENSG00000157240	ENST00000287934	D	0.86497	-2.13	4.91	4.03	0.46877	GPCR, family 2-like (1);	0.000000	0.51477	D	0.000100	D	0.85026	0.5603	L	0.56199	1.76	0.46222	D	0.998932	P	0.40638	0.725	P	0.48738	0.588	T	0.81125	-0.1075	10	0.30854	T	0.27	.	4.55	0.12107	0.0:0.716:0.0:0.284	.	611	Q9UP38	FZD1_HUMAN	M	611	ENSP00000287934:L611M	ENSP00000287934:L611M	L	+	1	2	FZD1	90733962	0.703000	0.27826	0.994000	0.49952	0.899000	0.52679	0.771000	0.26633	2.709000	0.92574	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	1	0	1	68	297	0	64	1	9.994375e-01	5	46	0	64	2		0	0	0	0	0	2	1	1	67	295	0	63	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP9	10142	broad.mit.edu	37	7	91622256	91622256	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91622256A>C	ENST00000359028.2	+	6	724	c.499A>C	c.(499-501)Act>Cct	p.T167P	AKAP9_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000356239.3_Missense_Mutation_p.T155P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		AGACAGTCCGACTCATCTAGA	0.393000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001583	missense			ENST00000359028.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	8.005	0.756176	0.15846	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.37	4.22	0.49857	.	0.000000	0.41500	D	0.000868	T	0.45013	0.1321	L	0.34521	1.04	0.31554	N	0.658346	B;B;D;B	0.76494	0.004;0.003;0.999;0.006	B;B;D;B	0.71656	0.004;0.004;0.974;0.009	T	0.49418	-0.8942	10	0.49607	T	0.09	.	10.8963	0.47025	0.9259:0.0:0.0741:0.0	.	155;155;167;155	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	P	155;167;167;167;167;155;106	ENSP00000348573:T155P;ENSP00000351922:T167P;ENSP00000350813:T167P;ENSP00000378065:T155P;ENSP00000391704:T106P	ENSP00000348573:T155P	T	+	1	0	AKAP9	91460192	0.043000	0.20138	0.969000	0.41365	0.293000	0.27360	2.255000	0.43222	2.147000	0.66899	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	7	252	0	39	0	1.187914e-01	0	19	0	39	2		0	0	0	0	0	2	1	9.784452e-01	7	243	0	40	2								-3.602344	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.340000	0.150000	1.000000	0.320000	0.392058	0.340000	0	2.300000e-01	5.100000e-01
AKAP9	10142	broad.mit.edu	37	7	91631371	91631371	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631371T>A	ENST00000359028.2	+	9	2401	c.2176T>A	c.(2176-2178)Tca>Aca	p.S726T	AKAP9_ENST00000356239.3_Missense_Mutation_p.S714T|AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		AAATTCAAAGTCAGAAGAAAT	0.299000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001583	missense			ENST00000359028.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	12.01	1.809990	0.31961	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.50813	0.73;0.73;0.73	5.62	4.39	0.52855	.	0.000000	0.35151	N	0.003401	T	0.51261	0.1664	L	0.27053	0.805	0.39583	D	0.969461	P;P;D;P	0.69078	0.63;0.862;0.997;0.952	B;P;D;P	0.66196	0.365;0.646;0.942;0.699	T	0.49799	-0.8901	10	0.33940	T	0.23	.	12.6987	0.57018	0.0:0.0:0.1373:0.8627	.	726;714;714;726	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	714;726;726;726;726	ENSP00000348573:S714T;ENSP00000351922:S726T;ENSP00000350813:S726T	ENSP00000348573:S714T	S	+	1	0	AKAP9	91469307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.939000	0.40213	2.276000	0.75962	0.529000	0.55759	TCA		TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	31	133	0	43	1	7.715572e-01	3	11	0	43	2		0	0	0	0	0	2	1	1	31	130	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
AKAP9	10142	broad.mit.edu	37	7	91631643	91631643	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631643T>C	ENST00000359028.2	+	9	2673	c.2448T>C	c.(2446-2448)atT>atC	p.I816I	AKAP9_ENST00000356239.3_Silent_p.I804I|AKAP9_ENST00000358100.2_Silent_p.I816I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		AAAGATTGATTTTCTTAGACT	0.338000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001819	synonymous_variant			ENST00000359028.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	87	359	0	122	1	9.803377e-01	5	23	0	122	2		0	0	0	0	0	2	1	1	85	351	0	121	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP9	10142	broad.mit.edu	37	7	91632019	91632019	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91632019A>T	ENST00000359028.2	+	9	3049	c.2824A>T	c.(2824-2826)Atg>Ttg	p.M942L	AKAP9_ENST00000356239.3_Missense_Mutation_p.M930L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		AACATTGGAAATGGGTGAGGT	0.363000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001583	missense			ENST00000359028.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204336	0.01568	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02737	4.18;4.18;4.18	5.28	-3.65	0.04502	.	1.558810	0.04096	N	0.312104	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47911	-0.9080	10	0.27082	T	0.32	.	6.3967	0.21616	0.2917:0.3727:0.3355:0.0	.	942;930;930;942	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	L	930;942;942;942;942	ENSP00000348573:M930L;ENSP00000351922:M942L;ENSP00000350813:M942L	ENSP00000348573:M930L	M	+	1	0	AKAP9	91469955	0.003000	0.15002	0.016000	0.15963	0.096000	0.18686	0.153000	0.16323	-0.530000	0.06349	-0.264000	0.10439	ATG		TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	52	233	0	44	1	9.887359e-01	6	28	0	44	2		0	0	0	0	0	2	1	1	52	227	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP9	10142	broad.mit.edu	37	7	91643633	91643633	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91643633T>C	ENST00000359028.2	+	11	3864	c.3639T>C	c.(3637-3639)taT>taC	p.Y1213Y	AKAP9_ENST00000356239.3_Silent_p.Y1201Y|AKAP9_ENST00000358100.2_Silent_p.Y1213Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		AATGTTCTTATTTTTTACAGG	0.373000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001819	synonymous_variant			ENST00000359028.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	29	108	0	25	1	9.976929e-01	15	24	0	25	2		0	0	0	0	0	2	1	1	27	101	0	25	2								-19.415360	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
AKAP9	10142	broad.mit.edu	37	7	91660882	91660882	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91660882A>G	ENST00000359028.2	+	17	4563	c.4338A>G	c.(4336-4338)aaA>aaG	p.K1446K	AKAP9_ENST00000356239.3_Silent_p.K1434K|AKAP9_ENST00000358100.2_Silent_p.K1446K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	p.K1434K(1)|p.K1446K(1)		155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		TGCTTGAAAAACAATACCAAG	0.294000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000359028.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	0	57	241	0	73	1	9.969740e-01	9	31	0	73	2		0	0	0	0	0	2	1	1	56	233	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP9	10142	broad.mit.edu	37	7	91668085	91668085	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91668085C>A	ENST00000359028.2	+	18	4952	c.4727C>A	c.(4726-4728)tCt>tAt	p.S1576Y	AKAP9_ENST00000356239.3_Splice_Site_p.S1564Y|AKAP9_ENST00000358100.2_Splice_Site_p.S1576Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		GTTAGACAGTCTGTAAGTATG	0.313000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001630	splice_region_variant			ENST00000359028.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.03	1.518409	0.27211	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03524	3.9;3.9;3.9	5.1	2.12	0.27331	.	0.710293	0.11825	N	0.525801	T	0.05456	0.0144	L	0.57536	1.79	0.09310	N	0.999994	P;P;P;P	0.46220	0.8;0.874;0.874;0.631	B;B;B;B	0.41894	0.143;0.277;0.369;0.246	T	0.34079	-0.9843	10	0.66056	D	0.02	.	6.6724	0.23076	0.1424:0.7018:0.0:0.1558	.	1576;1564;1564;1576	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Y	1564;1576;1576;1576;1576	ENSP00000348573:S1564Y;ENSP00000351922:S1576Y;ENSP00000350813:S1576Y	ENSP00000348573:S1564Y	S	+	2	0	AKAP9	91506021	0.008000	0.16893	0.918000	0.36340	0.705000	0.40729	0.267000	0.18552	0.645000	0.30675	0.591000	0.81541	TCT		TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	15	255	0	34	1	5.553512e-01	3	29	0	34	2		0	0	0	0	0	2	1	9.998589e-01	15	248	0	33	2								-17.668300	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.670000	0.390000	1.000000	1.000000	0.698449	0.670000	0	5.200000e-01	8.900000e-01
AKAP9	10142	broad.mit.edu	37	7	91690610	91690610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91690610C>T	ENST00000359028.2	+	24	5899	c.5674C>T	c.(5674-5676)Cgt>Tgt	p.R1892C	AKAP9_ENST00000356239.3_Missense_Mutation_p.R1880C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1892C|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		AGAGTTGATGCGTGAGTCATT	0.428000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001583	missense			ENST00000359028.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.9	4.067357	0.76301	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03920	3.77;3.77;3.76	5.69	5.69	0.88448	.	0.000000	0.40144	N	0.001172	T	0.23014	0.0556	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.66847	0.886;0.947;0.947	T	0.00040	-1.2237	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	1892;1880;1880	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	C	1880;1892;1892;1892;95	ENSP00000348573:R1880C;ENSP00000351922:R1892C;ENSP00000350813:R1892C	ENSP00000265737:R95C	R	+	1	0	AKAP9	91528546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.271000	0.58902	2.840000	0.97914	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	11	434	0	71	0	3.554611e-01	1	46	0	71	2		0	0	0	0	0	2	1	9.982028e-01	11	426	0	71	2								-3.071859	1	1	121412	4	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.300000	0.150000	1.000000	0.290000	0.352576	0.300000	0	2.200000e-01	4.300000e-01
AKAP9	10142	broad.mit.edu	37	7	91699387	91699387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91699387G>A	ENST00000359028.2	+	28	6635	c.6410G>A	c.(6409-6411)tGc>tAc	p.C2137Y	AKAP9_ENST00000356239.3_Missense_Mutation_p.C2125Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.C2137Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		ACAGACAAATGCAGTGAGCTT	0.338000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001583	missense			ENST00000359028.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.03	3.284671	0.59867	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03468	3.93;3.93;3.92	5.3	5.3	0.74995	.	0.000000	0.43416	D	0.000566	T	0.13798	0.0334	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.986;0.991;0.999	T	0.14504	-1.0470	10	0.05351	T	0.99	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	2137;2125;2125	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	2125;2137;2137;2137	ENSP00000348573:C2125Y;ENSP00000351922:C2137Y;ENSP00000350813:C2137Y	ENSP00000348573:C2125Y	C	+	2	0	AKAP9	91537323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.749000	0.91619	2.650000	0.89964	0.557000	0.71058	TGC		TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	0	28	755	0	145	1	6.695619e-01	3	60	0	145	2		0	0	0	0	0	2	1	1	27	745	0	143	2								-3.794014	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.430000	0.280000	1.000000	0.420000	0.466097	0.430000	0	3.500000e-01	5.300000e-01
AKAP9	10142	broad.mit.edu	37	7	91709392	91709392	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91709392C>T	ENST00000359028.2	+	32	8206	c.7981C>T	c.(7981-7983)Cta>Tta	p.L2661L	AKAP9_ENST00000356239.3_Silent_p.L2649L|AKAP9_ENST00000358100.2_Silent_p.L2661L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		ACTACAGAAGCTATTGGAGGG	0.308000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001819	synonymous_variant			ENST00000359028.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	45	146	0	37	1	1	22	82	0	37	2		0	0	0	0	0	2	1	1	42	140	0	37	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP9	10142	broad.mit.edu	37	7	91714146	91714146	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91714146C>T	ENST00000359028.2	+	35	8961	c.8736C>T	c.(8734-8736)gaC>gaT	p.D2912D	AKAP9_ENST00000356239.3_Silent_p.D2908D|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		CTGGATCAGACTGGGGTCAGG	0.353000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001819	synonymous_variant			ENST00000359028.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	7.563	0.665143	0.14710	.	.	ENSG00000127914	ENST00000435423	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.65228	0.2671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63148	-0.6702	4	.	.	.	.	13.363	0.60667	0.0:0.9237:0.0:0.0763	.	.	.	.	I	53	.	.	T	+	2	0	AKAP9	91552082	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.841000	0.39240	2.577000	0.86979	0.561000	0.74099	ACT		TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	130	605	0	122	1	9.998590e-01	9	52	0	122	2		0	0	0	0	0	2	1	1	124	593	0	122	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP9	10142	broad.mit.edu	37	7	91735055	91735055	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91735055A>G	ENST00000359028.2	+	47	11631	c.11406A>G	c.(11404-11406)agA>agG	p.R3802R	AKAP9_ENST00000356239.3_Silent_p.R3798R|AKAP9_ENST00000358100.2_Silent_p.R3748R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9			155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		ATATTAACAGAGATGGCTTTG	0.393000			T	BRAF	papillary thyroid										Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0							SO:0001819	synonymous_variant			ENST00000359028.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	48	405	0	68	1	9.999103e-01	13	104	0	68	2		0	0	0	0	0	2	1	1	48	398	0	68	2								-16.928400	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.940000	1.000000	1.000000	0.996883	0.990000	1	9.900000e-01	1
KRIT1	889	broad.mit.edu	37	7	91863867	91863867	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91863867G>A	ENST00000340022.2	-	10	1903	c.885C>T	c.(883-885)agC>agT	p.S295S	KRIT1_ENST00000412043.2_Silent_p.S295S|KRIT1_ENST00000394505.2_Silent_p.S295S|KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394507.1_Silent_p.S295S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing			22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		CTTCACAGGCGCTTCGGTGGA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000340022.2	1	1	hg19	CCDS5624.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1	1	0	1	69	274	0	65	1	1	27	84	0	65	2		0	0	0	0	0	2	1	1	65	271	0	64	2								-20.000000	1	1	121412	2	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRIT1	889	broad.mit.edu	37	7	91870376	91870376	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91870376T>C	ENST00000340022.2	-	5	1211	c.193A>G	c.(193-195)Aca>Gca	p.T65A	KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000466166.1_5'Flank|KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394507.1_Missense_Mutation_p.T65A	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing			22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		ATGCCTTGTGTTATTTCACTG	0.353000																								0							SO:0001583	missense			ENST00000340022.2	1	1	hg19	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724442	0.30593	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102;ENST00000413688;ENST00000458493	T;T;T;T;T;D;D;D	0.85702	1.05;1.05;1.05;1.05;-0.49;-2.02;-1.61;-1.61	6.08	2.23	0.28157	.	0.224065	0.45867	N	0.000337	T	0.61540	0.2355	N	0.04508	-0.205	0.33513	D	0.591426	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52756	-0.8533	10	0.15499	T	0.54	.	3.9012	0.09162	0.2657:0.1413:0.0:0.593	.	65;65	A6NNU0;O00522	.;KRIT1_HUMAN	A	65	ENSP00000378015:T65A;ENSP00000344668:T65A;ENSP00000410909:T65A;ENSP00000378013:T65A;ENSP00000378011:T65A;ENSP00000391675:T65A;ENSP00000410104:T65A;ENSP00000405835:T65A	ENSP00000344668:T65A	T	-	1	0	KRIT1	91708312	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.893000	0.39758	0.533000	0.28675	-0.336000	0.08194	ACA		TCGA-IB-7651-01A-11D-2154-08	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1	1	0	1	84	291	0	69	1	9.999977e-01	14	54	0	69	2		0	0	0	0	0	2	1	1	82	287	0	69	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKIB1	54467	broad.mit.edu	37	7	92027712	92027712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027712C>T	ENST00000265742.3	+	20	3095	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	p.R907W(1)		41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		AGATAGCCCTCGGGCTGCATT	0.493000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000265742.3	1	1	hg19	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363394	0.61513	.	.	ENSG00000001629	ENST00000265742	T	0.14266	2.52	5.87	2.99	0.34606	.	0.160491	0.53938	D	0.000048	T	0.22627	0.0546	L	0.34521	1.04	0.48185	D	0.999608	D;D	0.89917	1.0;0.984	D;P	0.66602	0.945;0.482	T	0.00581	-1.1660	10	0.87932	D	0	.	10.8133	0.46559	0.5232:0.3716:0.1052:0.0	.	259;907	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	W	907	ENSP00000265742:R907W	ENSP00000265742:R907W	R	+	1	2	ANKIB1	91865648	1.000000	0.71417	0.875000	0.34327	0.979000	0.70002	1.756000	0.38390	0.425000	0.26087	-0.181000	0.13052	CGG		TCGA-IB-7651-01A-11D-2154-08	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1	1	0	1	25	105	0	21	1	9.999667e-01	20	55	0	21	2		0	0	0	0	0	2	1	9.999999e-01	25	103	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
ANKIB1	54467	broad.mit.edu	37	7	92027950	92027950	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027950C>A	ENST00000265742.3	+	20	3333	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1			41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		CAGAGTATTGCCCTGATTCCT	0.498000																								0							SO:0001583	missense			ENST00000265742.3	1	1	hg19	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388527	0.61956	.	.	ENSG00000001629	ENST00000265742	T	0.14640	2.49	5.35	4.47	0.54385	.	0.165804	0.56097	D	0.000036	T	0.19765	0.0475	L	0.29908	0.895	0.58432	D	0.999996	D;B	0.67145	0.996;0.177	P;B	0.54759	0.76;0.1	T	0.01675	-1.1298	10	0.87932	D	0	.	14.479	0.67567	0.0:0.9296:0.0:0.0704	.	338;986	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	D	986	ENSP00000265742:A986D	ENSP00000265742:A986D	A	+	2	0	ANKIB1	91865886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.581000	0.67471	1.627000	0.50400	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1	1	0	1	96	387	0	91	1	1	31	103	0	91	2		0	0	0	0	0	2	1	1	94	376	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX1	5189	broad.mit.edu	37	7	92119135	92119135	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92119135A>G	ENST00000248633.4	-	22	3624	c.3529T>C	c.(3529-3531)Tta>Cta	p.L1177L	PEX1_ENST00000438045.1_Silent_p.L855L|PEX1_ENST00000428214.1_Silent_p.L1120L|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1			41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		GCTGTCCTTAACACTGGAGGC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000248633.4	1	1	hg19	CCDS5627.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	1	0	0	70	232	0	42	1	9.999930e-01	36	24	0	42	2		0	0	0	0	0	2	1	1	69	227	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX1	5189	broad.mit.edu	37	7	92122335	92122335	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92122335G>A	ENST00000248633.4	-	20	3234	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	PEX1_ENST00000438045.1_Silent_p.L725L|PEX1_ENST00000428214.1_Silent_p.L990L|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1			41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		AAAGCTTTCAGATCAGCTCCA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000248633.4	1	1	hg19	CCDS5627.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	1	0	1	124	418	0	124	0	9.994790e-01	1	39	0	124	2		0	0	0	0	0	2	1	1	122	414	0	123	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX1	5189	broad.mit.edu	37	7	92135622	92135622	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92135622T>C	ENST00000248633.4	-	11	1935	c.1840A>G	c.(1840-1842)Aaa>Gaa	p.K614E	PEX1_ENST00000438045.1_Missense_Mutation_p.K292E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E|PEX1_ENST00000541751.1_Missense_Mutation_p.K31E	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1			41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		AATGCTTCTTTACAGATTGCT	0.353000																								0							SO:0001583	missense			ENST00000248633.4	1	1	hg19	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900065	0.52227	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000541751;ENST00000545192	D;D;T;D	0.93076	-3.16;-3.16;2.25;-3.16	5.2	2.75	0.32379	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.326457	0.36338	N	0.002645	D	0.89952	0.6864	L	0.38175	1.15	0.35821	D	0.824617	P;P;P	0.41366	0.698;0.698;0.747	B;B;B	0.43386	0.338;0.341;0.418	D	0.89190	0.3550	10	0.48119	T	0.1	-8.6891	11.8096	0.52175	0.0:0.0:0.3037:0.6963	.	292;406;614	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	E	292;614;614;31;614	ENSP00000410438:K292E;ENSP00000248633:K614E;ENSP00000394413:K614E;ENSP00000438637:K31E	ENSP00000248633:K614E	K	-	1	0	PEX1	91973558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.065000	0.49994	0.278000	0.22164	0.454000	0.30748	AAA		TCGA-IB-7651-01A-11D-2154-08	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	1	0	1	119	400	0	121	1	9.984526e-01	5	30	0	121	2		0	0	0	0	0	2	1	1	118	398	0	120	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEX1	5189	broad.mit.edu	37	7	92138680	92138680	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92138680C>T	ENST00000248633.4	-	9	1728	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	PEX1_ENST00000438045.1_Missense_Mutation_p.D223N|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N|PEX1_ENST00000541751.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1			41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		AGAATAAAGTCAATTTCCTCA	0.343000																								0							SO:0001583	missense			ENST00000248633.4	1	1	hg19	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241212	0.79912	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.95412	-3.51;-3.54;-3.7	5.95	4.89	0.63831	.	0.499086	0.24238	N	0.040300	D	0.94712	0.8294	L	0.55481	1.735	0.80722	D	1	B;D;D	0.59767	0.139;0.986;0.986	B;P;P	0.50970	0.045;0.655;0.655	D	0.92607	0.6096	10	0.30078	T	0.28	-18.6954	12.974	0.58527	0.0:0.911:0.0:0.089	.	223;337;545	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	N	223;545;545;545	ENSP00000410438:D223N;ENSP00000248633:D545N;ENSP00000394413:D545N	ENSP00000248633:D545N	D	-	1	0	PEX1	91976616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.529000	0.45632	2.826000	0.97356	0.491000	0.48974	GAC		TCGA-IB-7651-01A-11D-2154-08	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	1	0	1	43	175	0	39	0	9.663557e-01	0	25	0	39	2		0	0	0	0	0	2	1	1	42	170	0	39	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD9	54809	broad.mit.edu	37	7	92730814	92730814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92730814G>A	ENST00000379958.2	-	3	4866	c.4597C>T	c.(4597-4599)Cga>Tga	p.R1533*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		TTTTCAGCTCGACCTTGTAAA	0.383000																								0							SO:0001587	stop_gained			ENST00000379958.2	0	1	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	43	10.085803	0.99333	.	.	ENSG00000205413	ENST00000379958	.	.	.	4.34	2.34	0.29019	.	0.399395	0.20515	U	0.090804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3242	0.43783	0.0:0.0:0.4711:0.5289	.	.	.	.	X	1533	.	ENSP00000369292:R1533X	R	-	1	2	SAMD9	92568750	0.003000	0.15002	0.750000	0.31169	0.630000	0.37929	1.478000	0.35442	1.173000	0.42796	0.609000	0.83330	CGA		TCGA-IB-7651-01A-11D-2154-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1	38	308	0	50	1	9.999951e-01	19	133	0	50	2		0	0	0	0	0	2	1	1	38	305	0	50	2								-14.625820	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.940000	1.000000	1.000000	0.996818	0.990000	1	9.900000e-01	1
SAMD9	54809	broad.mit.edu	37	7	92732478	92732478	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732478T>C	ENST00000379958.2	-	3	3202	c.2933A>G	c.(2932-2934)tAc>tGc	p.Y978C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		TACTCCACAGTAGTTCCCACA	0.393000																								0							SO:0001583	missense			ENST00000379958.2	1	1	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	1.823	-0.471728	0.04445	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.88	4.88	0.63580	.	0.437147	0.20801	N	0.085438	T	0.15609	0.0376	L	0.31752	0.955	0.23876	N	0.996594	P	0.43885	0.82	B	0.34652	0.187	T	0.17992	-1.0351	10	0.52906	T	0.07	-4.8748	8.1729	0.31264	0.0:0.0903:0.0:0.9097	.	978	Q5K651	SAMD9_HUMAN	C	978	ENSP00000369292:Y978C;ENSP00000414529:Y978C	ENSP00000369292:Y978C	Y	-	2	0	SAMD9	92570414	1.000000	0.71417	0.179000	0.23059	0.248000	0.25809	3.567000	0.53813	2.059000	0.61396	0.496000	0.49642	TAC		TCGA-IB-7651-01A-11D-2154-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1	103	373	0	97	1	9.999992e-01	25	50	0	97	2		0	0	0	0	0	2	1	1	103	368	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD9	54809	broad.mit.edu	37	7	92732941	92732941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732941G>A	ENST00000379958.2	-	3	2739	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		TTTTCATATCGAATGTACTTT	0.353000																								0							SO:0001587	stop_gained			ENST00000379958.2	0	1	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	37	6.494928	0.97612	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.44	2.51	0.30379	.	0.257740	0.23690	U	0.045527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7059	0.28650	0.0:0.161:0.5076:0.3314	.	.	.	.	X	824	.	ENSP00000369292:R824X	R	-	1	2	SAMD9	92570877	0.000000	0.05858	0.937000	0.37676	0.932000	0.56968	0.105000	0.15333	0.429000	0.26202	0.609000	0.83330	CGA		TCGA-IB-7651-01A-11D-2154-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	0	0	0	16	443	0	81	1	7.575064e-01	3	74	0	81	2		0	0	0	0	0	2	1	9.999269e-01	16	436	0	80	2								-3.424112	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.420000	0.240000	1.000000	0.410000	0.463614	0.420000	0	3.200000e-01	5.600000e-01
SAMD9	54809	broad.mit.edu	37	7	92734599	92734599	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734599T>C	ENST00000379958.2	-	3	1081	c.812A>G	c.(811-813)tAt>tGt	p.Y271C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		GTCTTCAAAATACTTGTTTAT	0.388000																								0							SO:0001583	missense			ENST00000379958.2	1	1	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204867	0.58234	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15718	2.4;2.4	4.34	4.34	0.51931	.	0.000000	0.56097	U	0.000039	T	0.34600	0.0903	L	0.54323	1.7	0.34310	D	0.68537	D	0.89917	1.0	D	0.75484	0.986	T	0.46247	-0.9205	10	0.44086	T	0.13	-9.2377	12.7423	0.57259	0.0:0.0:0.0:1.0	.	271	Q5K651	SAMD9_HUMAN	C	271	ENSP00000369292:Y271C;ENSP00000414529:Y271C	ENSP00000369292:Y271C	Y	-	2	0	SAMD9	92572535	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	3.483000	0.53194	1.948000	0.56530	0.491000	0.48974	TAT		TCGA-IB-7651-01A-11D-2154-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1	46	454	0	96	1	9.964573e-01	9	76	0	96	2		0	0	0	0	0	2	1	1	45	448	0	95	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.978656	0.990000	1	9.400000e-01	1
SAMD9	54809	broad.mit.edu	37	7	92734864	92734864	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734864G>A	ENST00000379958.2	-	3	816	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		CCTGTTTCAGGCTGTAGACTA	0.388000																								0							SO:0001583	missense			ENST00000379958.2	1	1	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902058	0.33628	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15139	2.45;2.45	4.7	4.7	0.59300	.	0.076196	0.52532	D	0.000067	T	0.23572	0.0570	L	0.55990	1.75	0.27564	N	0.950106	P	0.47841	0.901	P	0.44696	0.458	T	0.08146	-1.0736	10	0.72032	D	0.01	.	16.7006	0.85349	0.0:0.0:1.0:0.0	.	183	Q5K651	SAMD9_HUMAN	S	183	ENSP00000369292:P183S;ENSP00000414529:P183S	ENSP00000369292:P183S	P	-	1	0	SAMD9	92572800	1.000000	0.71417	0.998000	0.56505	0.133000	0.20885	6.510000	0.73729	2.613000	0.88420	0.603000	0.83216	CCT		TCGA-IB-7651-01A-11D-2154-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1	167	511	1	131	1	9.999386e-01	4	50	1	131	3		0	0	0	0	0	2	1	1	165	502	0	131	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD9	54809	broad.mit.edu	37	7	92734899	92734899	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734899T>A	ENST00000379958.2	-	3	781	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		ACGATATGGATTACTGAATTC	0.363000																								0							SO:0001583	missense			ENST00000379958.2	1	1	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663551	0.29515	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14391	2.51;2.51	4.7	3.53	0.40419	.	0.485095	0.17700	N	0.164974	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.25882	-1.0119	10	0.72032	D	0.01	.	4.973	0.14125	0.1622:0.089:0.0:0.7488	.	171	Q5K651	SAMD9_HUMAN	I	171	ENSP00000369292:N171I;ENSP00000414529:N171I	ENSP00000369292:N171I	N	-	2	0	SAMD9	92572835	0.002000	0.14202	0.020000	0.16555	0.966000	0.64601	0.554000	0.23407	0.934000	0.37316	0.491000	0.48974	AAT		TCGA-IB-7651-01A-11D-2154-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1	52	541	0	115	1	9.751373e-01	10	53	0	115	2		0	0	0	0	0	2	1	1	52	534	0	115	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.790000	1.000000	1.000000	0.967853	0.990000	1	9.000000e-01	1
SAMD9	54809	broad.mit.edu	37	7	92735170	92735170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735170C>T	ENST00000379958.2	-	3	510	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		TGAATCGAATCTTCAATGGCT	0.373000																								0							SO:0001583	missense			ENST00000379958.2	1	1	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164680	0.06502	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.22336	1.96;2.77	4.6	-1.92	0.07618	.	1.084970	0.07229	N	0.862159	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	10	0.09338	T	0.73	.	6.1642	0.20380	0.1447:0.2554:0.0:0.5999	.	81	Q5K651	SAMD9_HUMAN	N	81	ENSP00000369292:D81N;ENSP00000414529:D81N	ENSP00000369292:D81N	D	-	1	0	SAMD9	92573106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	-0.177000	0.10690	-0.924000	0.02725	GAT		TCGA-IB-7651-01A-11D-2154-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1	147	574	0	108	1	9.999994e-01	16	64	0	108	2		0	0	0	0	0	2	1	1	144	568	0	108	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD9	54809	broad.mit.edu	37	7	92735188	92735188	+	Missense_Mutation	SNP	G	G	A	rs111780648	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735188G>A	ENST00000379958.2	-	3	492	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		GCTGTTTTCCGCAATTCTTTG	0.388000																								0							SO:0001583	missense			ENST00000379958.2	1	0	hg19	CCDS34680.1	22	0.010073260073260074	0	0.0	6	0.016574585635359115	0	0.0	16	0.021108179419525065	G	11.28	1.593504	0.28357	0.002724	0.024419	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.47528	0.84;0.84	4.1	2.24	0.28232	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	1.441110	0.04591	N	0.396786	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17379	-1.0371	10	0.51188	T	0.08	.	6.7306	0.23381	0.0953:0.0:0.7298:0.1749	.	75	Q5K651	SAMD9_HUMAN	W	75	ENSP00000369292:R75W;ENSP00000414529:R75W	ENSP00000369292:R75W	R	-	1	2	SAMD9	92573124	0.000000	0.05858	0.024000	0.17045	0.152000	0.21847	0.302000	0.19192	0.671000	0.31185	0.505000	0.49811	CGG		TCGA-IB-7651-01A-11D-2154-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	0	0	1	71	614	0	99	1	9.947052e-01	7	63	0	99	2		0	0	0	0	0	2	1	1	70	605	0	99	2								-2.806910	1	0	121412	2542	68	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.970000	1.000000	1.000000	0.998235	0.990000	1	9.900000e-01	1
SAMD9L	219285	broad.mit.edu	37	7	92760879	92760879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92760879G>A	ENST00000318238.4	-	5	5622	c.4406C>T	c.(4405-4407)tCc>tTc	p.S1469F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like			88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)		TGCCTGCTTGGACCTGCACAT	0.398000																								0							SO:0001583	missense			ENST00000318238.4	1	1	hg19	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398691	0.42512	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.24908	1.83;1.83;1.83	5.22	4.26	0.50523	.	0.251965	0.32518	N	0.005995	T	0.27697	0.0681	L	0.56769	1.78	0.26349	N	0.977236	B	0.15473	0.013	B	0.14578	0.011	T	0.21008	-1.0258	10	0.72032	D	0.01	-7.544	14.055	0.64761	0.0851:0.0:0.9149:0.0	.	1469	Q8IVG5	SAM9L_HUMAN	F	1469;1469;1469;291	ENSP00000326247:S1469F;ENSP00000405760:S1469F;ENSP00000408796:S1469F	ENSP00000326247:S1469F	S	-	2	0	SAMD9L	92598815	0.014000	0.17966	0.986000	0.45419	0.848000	0.48234	1.075000	0.30716	2.716000	0.92895	0.467000	0.42956	TCC		TCGA-IB-7651-01A-11D-2154-08	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1	212	792	0	184	1	1	20	147	0	184	2		0	0	0	0	0	2	1	1	210	780	0	182	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD9L	219285	broad.mit.edu	37	7	92761865	92761865	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92761865G>T	ENST00000318238.4	-	5	4636	c.3420C>A	c.(3418-3420)aaC>aaA	p.N1140K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	p.N1140N(1)		88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)		TGCTCCTACAGTTTTTGTTCC	0.383000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000318238.4	1	1	hg19	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.018784	0.00418	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20881	2.04;2.04;2.04	4.88	-1.8	0.07907	.	0.250073	0.29369	N	0.012357	T	0.06781	0.0173	N	0.16368	0.405	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.32348	-0.9910	10	0.02654	T	1	-0.4434	1.9203	0.03306	0.1395:0.1944:0.276:0.3901	.	1140	Q8IVG5	SAM9L_HUMAN	K	1140	ENSP00000326247:N1140K;ENSP00000405760:N1140K;ENSP00000408796:N1140K	ENSP00000326247:N1140K	N	-	3	2	SAMD9L	92599801	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-1.330000	0.02675	-0.013000	0.14199	0.467000	0.42956	AAC		TCGA-IB-7651-01A-11D-2154-08	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1	169	622	0	132	1	1	10	118	0	132	2		0	0	0	0	0	2	1	1	166	607	0	132	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD9L	219285	broad.mit.edu	37	7	92762815	92762815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762815C>A	ENST00000318238.4	-	5	3686	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like			88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)		AAATCCTTTTCTGCTAAAACG	0.378000																								0							SO:0001587	stop_gained			ENST00000318238.4	0	1	hg19	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	45	11.488408	0.99567	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.67	1.81	0.25067	.	0.229546	0.35151	N	0.003407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-3.998	8.6694	0.34140	0.0:0.7387:0.0:0.2613	.	.	.	.	X	824	.	ENSP00000326247:E824X	E	-	1	0	SAMD9L	92600751	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	0.087000	0.14958	0.190000	0.20209	0.467000	0.42956	GAA		TCGA-IB-7651-01A-11D-2154-08	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1	106	365	0	83	1	9.998843e-01	7	41	0	83	2		0	0	0	0	0	2	1	1	103	360	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD9L	219285	broad.mit.edu	37	7	92762927	92762927	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762927G>T	ENST00000318238.4	-	5	3574	c.2358C>A	c.(2356-2358)acC>acA	p.T786T	SAMD9L_ENST00000437805.1_Silent_p.T786T|SAMD9L_ENST00000411955.1_Silent_p.T786T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like			88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)		TTGCCCTATAGGTGACCAGAT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000318238.4	1	1	hg19	CCDS34681.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1	117	546	0	134	1	9.999871e-01	10	66	0	134	2		0	0	0	0	0	2	1	1	117	538	0	133	2								-2.951065	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SAMD9L	219285	broad.mit.edu	37	7	92763168	92763168	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92763168G>T	ENST00000318238.4	-	5	3333	c.2117C>A	c.(2116-2118)tCt>tAt	p.S706Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like			88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)		AAAATCTGAAGAATAGTTTTC	0.323000																								0							SO:0001583	missense			ENST00000318238.4	1	1	hg19	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680810	0.47886	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25085	1.82;1.82;1.82	4.55	4.55	0.56014	.	0.482216	0.19226	N	0.119549	T	0.41442	0.1159	M	0.63843	1.955	0.29057	N	0.884132	P	0.46142	0.873	P	0.54026	0.74	T	0.33059	-0.9883	10	0.72032	D	0.01	-9.738	13.7229	0.62740	0.0:0.1554:0.8446:0.0	.	706	Q8IVG5	SAM9L_HUMAN	Y	706	ENSP00000326247:S706Y;ENSP00000405760:S706Y;ENSP00000408796:S706Y	ENSP00000326247:S706Y	S	-	2	0	SAMD9L	92601104	0.961000	0.32948	1.000000	0.80357	0.864000	0.49448	2.549000	0.45803	2.372000	0.80975	0.467000	0.42956	TCT		TCGA-IB-7651-01A-11D-2154-08	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1	102	317	0	78	1	9.999990e-01	11	54	0	78	2		0	0	0	0	0	2	1	1	99	312	0	78	2								-5.012905	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEPACAM2	253012	broad.mit.edu	37	7	92838007	92838007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92838007C>A	ENST00000394468.2	-	4	975	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2			28					GATGCAACTTCTAAGCGAGGC	0.433000																								0							SO:0001587	stop_gained			ENST00000394468.2	0	1	hg19	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929985	0.92389	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	.	.	.	5.23	4.28	0.50868	.	0.047731	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-25.2396	9.6034	0.39619	0.0:0.7803:0.1439:0.0758	.	.	.	.	X	300;288;288;323	.	ENSP00000340532:E288X	E	-	1	0	HEPACAM2	92675943	1.000000	0.71417	0.984000	0.44739	0.701000	0.40568	4.060000	0.57477	2.826000	0.97356	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	1	0	1	93	360	0	116	0	3.607494e-01	1	5	0	116	2		0	0	0	0	0	2	1	1	92	353	0	112	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC132	55610	broad.mit.edu	37	7	92963455	92963455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92963455T>C	ENST00000305866.5	+	22	2132	c.2004T>C	c.(2002-2004)agT>agC	p.S668S	CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Silent_p.S638S|CCDC132_ENST00000541136.1_Silent_p.S479S	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132			8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)		TCGGCCTTAGTAGTAGTAGAC	0.313000																								0							SO:0001819	synonymous_variant			ENST00000305866.5	1	1	hg19	CCDS43617.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	1	0	1	136	513	0	150	1	9.999984e-01	29	44	0	150	2		0	0	0	0	0	2	1	1	135	506	0	149	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC132	55610	broad.mit.edu	37	7	92983071	92983071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92983071A>C	ENST00000305866.5	+	26	2711	c.2583A>C	c.(2581-2583)gaA>gaC	p.E861D	CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.E831D|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132			8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)		CTATTGTAGAAGGGTAAGTTT	0.323000																								0							SO:0001583	missense			ENST00000305866.5	1	1	hg19	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844788	0.71603	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.52	4.23	0.50019	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.38649	1.16	0.80722	D	1	D;D;D	0.63046	0.992;0.99;0.979	D;D;D	0.77004	0.989;0.98;0.982	T	0.58624	-0.7604	9	0.30078	T	0.28	-11.2153	10.4322	0.44413	0.8921:0.0:0.1079:0.0	.	581;831;861	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	D	861;831;581	.	ENSP00000307666:E861D	E	+	3	2	CCDC132	92821007	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.723000	0.47277	2.237000	0.73441	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	1	0	1	100	419	0	93	1	9.999899e-01	22	49	0	93	2		0	0	0	0	0	2	1	1	97	408	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CALCR	799	broad.mit.edu	37	7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:93106930G>A	ENST00000394441.1	-	4	571	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	CALCR_ENST00000359558.2_Missense_Mutation_p.P104S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor			45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)	Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACTCCAGCCGGTGTGTCATCC	0.418000																								0							SO:0001583	missense			ENST00000394441.1	1	1	hg19	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113971	0.77210	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.06	4.06	0.47325	.	.	.	.	.	T	0.64204	0.2577	L	0.39147	1.195	0.80722	D	1	P;P	0.42649	0.537;0.786	B;P	0.51297	0.236;0.665	T	0.60068	-0.7335	9	0.27785	T	0.31	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	104;86	F5H605;A4D1G6	.;.	S	104;86;86;86;86;86	ENSP00000352561:P104S;ENSP00000353385:P86S;ENSP00000399552:P86S;ENSP00000377959:P86S;ENSP00000389295:P86S	ENSP00000352561:P104S	P	-	1	0	CALCR	92944866	1.000000	0.71417	0.877000	0.34402	0.658000	0.38924	5.934000	0.70138	2.544000	0.85801	0.557000	0.71058	CCG		TCGA-IB-7651-01A-11D-2154-08	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	0	0	1	43	170	1	47		0	0	0	1	47	2		0	0	0	0	0	2	1	9.999585e-01	42	169	1	44	16								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL1A2	1278	broad.mit.edu	37	7	94038695	94038695	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94038695T>C	ENST00000297268.6	+	17	1325	c.854T>C	c.(853-855)gTg>gCg	p.V285A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2		COL1A2/PLAG1(3)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)	Collagenase(DB00048)	CGTGGTGAAGTGGGTCTTCCA	0.493000										HNSCC(75;0.22)														0							SO:0001583	missense			ENST00000297268.6	1	1	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282364	0.40394	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93247	-3.19	5.73	1.87	0.25490	.	0.381500	0.28130	N	0.016489	T	0.79393	0.4438	N	0.03050	-0.425	0.22903	N	0.998586	B	0.02656	0.0	B	0.01281	0.0	T	0.67662	-0.5613	10	0.30854	T	0.27	.	5.0595	0.14550	0.1218:0.2643:0.0:0.6139	.	285	P08123	CO1A2_HUMAN	A	285;286	ENSP00000297268:V285A	ENSP00000297268:V285A	V	+	2	0	COL1A2	93876631	0.818000	0.29161	0.992000	0.48379	0.990000	0.78478	1.716000	0.37981	0.132000	0.18615	0.533000	0.62120	GTG		TCGA-IB-7651-01A-11D-2154-08	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	1	0	1	159	623	0	127	1	1	34	6292	0	127	2		0	0	0	0	0	2	1	1	128	511	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL1A2	1278	broad.mit.edu	37	7	94052429	94052429	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94052429C>T	ENST00000297268.6	+	40	3035	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2		COL1A2/PLAG1(3)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)	Collagenase(DB00048)	GCTGGTACTGCTGTAAGTGAT	0.473000										HNSCC(75;0.22)														0							SO:0001630	splice_region_variant			ENST00000297268.6	1	0	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583147	0.65992	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.95821	-3.82	5.32	5.32	0.75619	.	0.258640	0.37530	N	0.002045	D	0.91653	0.7362	N	0.17872	0.535	0.54753	D	0.999987	B	0.10296	0.003	B	0.06405	0.002	D	0.86848	0.2021	10	0.51188	T	0.08	.	19.4034	0.94640	0.0:1.0:0.0:0.0	.	855	P08123	CO1A2_HUMAN	V	855;856	ENSP00000297268:A855V	ENSP00000297268:A855V	A	+	2	0	COL1A2	93890365	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.158000	0.42329	2.662000	0.90505	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	1	0	1	94	391	0	72	1	1	4	7355	0	72	2		0	0	0	0	0	2	1	1	91	379	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL1A2	1278	broad.mit.edu	37	7	94054952	94054952	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94054952C>T	ENST00000297268.6	+	43	3283	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2		COL1A2/PLAG1(3)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)	Collagenase(DB00048)	TCCCCCAGGTCGCGATGGTCA	0.483000										HNSCC(75;0.22)														0							SO:0001583	missense			ENST00000297268.6	1	1	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428428	0.83667	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94330	-3.4	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97202	0.9865	10	0.87932	D	0	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	938	P08123	CO1A2_HUMAN	C	938;939	ENSP00000297268:R938C	ENSP00000297268:R938C	R	+	1	0	COL1A2	93892888	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	1	0	1	53	301	0	76	1	1	6	7374	0	76	2		0	0	0	0	0	2	1	1	52	297	0	75	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CASD1	64921	broad.mit.edu	37	7	94180661	94180661	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94180661C>T	ENST00000297273.4	+	15	2114	c.1827C>T	c.(1825-1827)caC>caT	p.H609H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1			31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)		TAGTTTTCCACGGAATGCTGT	0.299000																								0							SO:0001819	synonymous_variant			ENST00000297273.4	1	1	hg19	CCDS5636.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	1	0	0	14	148	0	39	1	9.346838e-01	3	49	0	39	2		0	0	0	0	0	2	1	9.997474e-01	12	145	0	38	2								-7.199628	1	1	121356	3	28	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.600000	1.000000	1.000000	0.927284	0.990000	1	8.000000e-01	1
CASD1	64921	broad.mit.edu	37	7	94184895	94184895	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94184895T>C	ENST00000297273.4	+	18	2506	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1			31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)		AACATCATTGTCAGCACTTTC	0.388000																								0							SO:0001583	missense			ENST00000297273.4	1	1	hg19	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697164	0.48202	.	.	ENSG00000127995	ENST00000297273	T	0.52754	0.65	5.29	4.14	0.48551	.	0.115568	0.64402	N	0.000017	T	0.49406	0.1555	M	0.78049	2.395	0.49389	D	0.999789	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.51332	-0.8719	10	0.87932	D	0	.	11.1885	0.48671	0.0:0.0728:0.0:0.9272	.	740;740	Q8WZ77;Q96PB1	.;CASD1_HUMAN	A	740	ENSP00000297273:V740A	ENSP00000297273:V740A	V	+	2	0	CASD1	94022831	1.000000	0.71417	0.999000	0.59377	0.442000	0.32017	6.114000	0.71560	0.970000	0.38263	-0.333000	0.08304	GTC		TCGA-IB-7651-01A-11D-2154-08	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	1	0	1	55	262	0	61	0	9.869928e-01	0	35	0	61	2		0	0	0	0	0	2	1	1	54	257	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGCE	8910	broad.mit.edu	37	7	94228093	94228093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94228093G>A	ENST00000265735.7	-	9	1357	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	SGCE_ENST00000428696.2_Missense_Mutation_p.T407M|SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000415788.2_Missense_Mutation_p.T452M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon			14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)		TTACTGCTGCGTTTGCATCAA	0.398000																								0							SO:0001583	missense			ENST00000265735.7	1	1	hg19	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148267	0.78001	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.21	5.21	0.72293	.	0.045801	0.85682	D	0.000000	D	0.98055	0.9359	L	0.44542	1.39	0.58432	D	0.999996	D;D;D;P;P;D	0.89917	1.0;1.0;0.998;0.916;0.919;0.997	D;D;P;P;P;D	0.91635	0.999;0.971;0.88;0.616;0.714;0.91	D	0.99246	1.0886	10	0.62326	D	0.03	-20.0409	19.1279	0.93393	0.0:0.0:1.0:0.0	.	452;375;407;416;416;407	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	M	416;416;375;407;407;452	ENSP00000265735:T416M;ENSP00000398930:T416M;ENSP00000394061:T375M;ENSP00000388734:T407M;ENSP00000397536:T407M;ENSP00000405313:T452M	ENSP00000265735:T416M	T	-	2	0	SGCE	94066029	1.000000	0.71417	0.857000	0.33713	0.893000	0.52053	9.297000	0.96120	2.608000	0.88229	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2	1	0	1	127	506	0	110	0	1	0	217	0	110	2		0	0	0	0	0	2	1	1	122	494	0	110	2								-20.000000	1	1	121412	9	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGCE	8910	broad.mit.edu	37	7	94257604	94257604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94257604C>T	ENST00000265735.7	-	3	410	c.300G>A	c.(298-300)tgG>tgA	p.W100*	SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000415788.2_Nonsense_Mutation_p.W136*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon			14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)		TATATCGAAGCCATCCAGGTC	0.393000																								0		GRCh37	CM061979	SGCE	M		SO:0001587	stop_gained			ENST00000265735.7	0	1	hg19	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419078	0.96092	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8144	19.7702	0.96361	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;59;100;100;136	.	ENSP00000265735:W100X	W	-	3	0	SGCE	94095540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.749000	0.94314	0.650000	0.86243	TGG		TCGA-IB-7651-01A-11D-2154-08	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2	1	0	1	37	133	0	32	0	9.999959e-01	0	74	0	32	2		0	0	0	0	0	2	1	1	37	132	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PEG10	23089	broad.mit.edu	37	7	94293496	94293496	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94293496C>T	ENST00000482108.1	+	2	1107	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10			21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)		CCACGAGGGCCTCAGCGACCA	0.572000																								0							SO:0001583	missense			ENST00000482108.1	1	1	hg19	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822762	0.71028	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.44881	0.91;0.91	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.63129	0.2485	M	0.72894	2.215	0.31822	N	0.625821	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68788	-0.5316	9	0.66056	D	0.02	.	14.1258	0.65219	0.0:1.0:0.0:0.0	.	286;210	B4DSP0;Q86TG7	.;PEG10_HUMAN	F	210	ENSP00000417587:L210F;ENSP00000418944:L210F	ENSP00000417587:L210F	L	+	1	0	PEG10	94131432	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	2.473000	0.45145	2.276000	0.75962	0.555000	0.69702	CTC		TCGA-IB-7651-01A-11D-2154-08	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	0	0	1	144	673	0	131	0	3.592709e-01	0	7	0	131	2		0	0	0	0	0	2	1	1	139	667	0	131	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R9A	55607	broad.mit.edu	37	7	94879459	94879459	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94879459C>A	ENST00000433881.1	+	9	2754	c.2222C>A	c.(2221-2223)aCa>aAa	p.T741K	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T741K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T763K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A			71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)		GAGGCCCAAACATTATGCCAC	0.393000										HNSCC(28;0.073)														0							SO:0001583	missense			ENST00000433881.1	1	1	hg19	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243814	0.39697	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.14640	2.49;2.53;2.51;2.53;2.51;2.51	5.22	3.29	0.37713	.	0.054644	0.64402	D	0.000001	T	0.27384	0.0672	L	0.47716	1.5	0.47698	D	0.999495	B;D;B;D;D	0.69078	0.201;0.964;0.302;0.997;0.968	B;P;B;P;P	0.61874	0.053;0.79;0.153;0.895;0.554	T	0.04454	-1.0950	10	0.42905	T	0.14	.	16.3956	0.83604	0.0:0.7534:0.2466:0.0	.	741;741;763;741;741	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	763;741;741;741;741;741	ENSP00000405514:T763K;ENSP00000344524:T741K;ENSP00000411342:T741K;ENSP00000398870:T741K;ENSP00000289495:T741K;ENSP00000402893:T741K	ENSP00000289495:T741K	T	+	2	0	PPP1R9A	94717395	1.000000	0.71417	0.739000	0.30968	0.019000	0.09904	4.778000	0.62368	1.568000	0.49683	-0.165000	0.13383	ACA		TCGA-IB-7651-01A-11D-2154-08	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	1	0	1	37	179	0	49	0	8.183760e-02	0	3	0	49	2		0	0	0	0	0	2	1	1	37	178	0	49	2								-19.927810	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PON1	5444	broad.mit.edu	37	7	94940825	94940825	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94940825T>G	ENST00000222381.3	-	5	666	c.435A>C	c.(433-435)aaA>aaC	p.K145N	PON1_ENST00000542556.1_Missense_Mutation_p.K145N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1			27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)	Cefazolin(DB01327)	CTTCTTGAAATTTAAACAACT	0.358000													GBM(119;715 1622 17358 22490 33240)											0							SO:0001583	missense			ENST00000222381.3	1	1	hg19	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748396	0.49257	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.44482	0.92;0.92	4.64	1.07	0.20283	Six-bladed beta-propeller, TolB-like (1);	0.146914	0.64402	D	0.000015	T	0.38799	0.1054	M	0.73598	2.24	0.46298	D	0.998975	P;P	0.47191	0.891;0.826	B;B	0.39935	0.314;0.259	T	0.38112	-0.9676	10	0.72032	D	0.01	-24.5318	8.3656	0.32385	0.0:0.312:0.0:0.688	.	145;145	F5H4W9;P27169	.;PON1_HUMAN	N	145	ENSP00000222381:K145N;ENSP00000444854:K145N	ENSP00000222381:K145N	K	-	3	2	PON1	94778761	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.796000	0.26986	0.394000	0.25230	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	1	0	1	88	359	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	1	87	351	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PON2	5445	broad.mit.edu	37	7	95034793	95034793	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95034793C>T	ENST00000222572.3	-	9	1160	c.914G>A	c.(913-915)cGc>cAc	p.R305H	PON2_ENST00000433091.2_Missense_Mutation_p.R293H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000536183.1_Missense_Mutation_p.R326H			Q15165	PON2_HUMAN	paraoxonase 2			9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)		GTTCTGGATGCGGAGAACCTA	0.433000													GBM(42;803 823 13649 23368 31463)											0							SO:0001583	missense			ENST00000222572.3	1	1	hg19	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053052	0.75960	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.44083	0.93;0.93;0.93	4.82	3.94	0.45596	Six-bladed beta-propeller, TolB-like (1);	0.056799	0.64402	D	0.000001	T	0.58764	0.2145	M	0.87456	2.885	0.54753	D	0.999984	D;D	0.71674	0.998;0.998	P;P	0.52267	0.694;0.694	T	0.68360	-0.5429	10	0.59425	D	0.04	-3.9691	13.2264	0.59916	0.0:0.9234:0.0:0.0766	.	305;305	A4D1H7;Q15165	.;PON2_HUMAN	H	326;303;293;305	ENSP00000440282:R326H;ENSP00000404622:R293H;ENSP00000222572:R305H	ENSP00000222572:R305H	R	-	2	0	PON2	94872729	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.482000	0.66833	1.395000	0.46643	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	1	0	1	94	449	0	107	1	1	155	283	0	107	2		0	0	0	0	0	2	1	1	93	443	0	107	2								-3.169922	1	1	121412	1	26	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASB4	51666	broad.mit.edu	37	7	95157228	95157228	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157228C>T	ENST00000325885.5	+	3	662	c.591C>T	c.(589-591)caC>caT	p.H197H	ASB4_ENST00000428113.1_Silent_p.H197H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4			20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)		ACGTGGAACACGGGGCCATAG	0.607000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000325885.5	0	1	hg19	CCDS5641.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	0	0	0	7	283	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.802257e-01	7	280	0	41	2								-7.934151	1	1	121412	1	34	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.300000	0.130000	1.000000	0.280000	0.356950	0.300000	0	2.000000e-01	4.600000e-01
ASB4	51666	broad.mit.edu	37	7	95157465	95157465	+	Silent	SNP	C	C	T	rs146416403	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157465C>T	ENST00000325885.5	+	3	899	c.828C>T	c.(826-828)gcC>gcT	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4			20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)		AAGCTGGCGCCGAAGCCAATC	0.577000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000325885.5	1	1	hg19	CCDS5641.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	1	0	1	60	233	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	60	227	0	36	2								-3.720152	1	1	121412	2	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDK4	5166	broad.mit.edu	37	7	95218952	95218952	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95218952C>A	ENST00000005178.5	-	7	968	c.771G>T	c.(769-771)aaG>aaT	p.K257N		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4			15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)		AGTATCATACCTTAAATAGTT	0.294000																								0							SO:0001630	splice_region_variant			ENST00000005178.5	0	1	hg19	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058879	0.55325	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.55760	0.5	5.59	4.7	0.59300	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82959	-0.0198	9	.	.	.	.	16.1555	0.81664	0.1347:0.8653:0.0:0.0	.	257	Q16654	PDK4_HUMAN	N	257;221	ENSP00000005178:K257N	.	K	-	3	2	PDK4	95056888	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.818000	0.86416	1.482000	0.48325	-0.181000	0.13052	AAG		TCGA-IB-7651-01A-11D-2154-08	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	0	0	0	10	482	0	101	0	9.721722e-01	0	297	0	101	2		0	0	0	0	0	2	1	9.966040e-01	9	473	0	101	2								-2.037291	0	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.250000	0.120000	1.000000	0.230000	0.302206	0.250000	0	1.800000e-01	3.600000e-01
DYNC1I1	1780	broad.mit.edu	37	7	95657489	95657489	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95657489C>A	ENST00000324972.6	+	11	1216	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	DYNC1I1_ENST00000537881.1_Silent_p.S304S|DYNC1I1_ENST00000437599.1_Silent_p.S321S|DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000359388.4_Silent_p.S304S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1			54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)		CCTGACAGTCCTCTGTGATGT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000324972.6	1	1	hg19	CCDS5644.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	1	0	1	183	769	0	166	0	9.736046e-02	0	3	0	166	2		0	0	0	0	0	2	1	1	181	738	0	165	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHFM1	7979	broad.mit.edu	37	7	96324145	96324145	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96324145A>G	ENST00000248566.2	-	2	262	c.135T>C	c.(133-135)gaT>gaC	p.D45D	SHFM1_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1			5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)				CTACATTGTCATCATCCCAAT	0.333000								Homologous recombination																0							SO:0001819	synonymous_variant			ENST00000248566.2	1	1	hg19	CCDS5646.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	1	0	1	114	421	0	97	1	1	413	985	0	97	2		0	0	0	0	0	2	1	1	114	414	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLX6	1750	broad.mit.edu	37	7	96639182	96639182	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639182C>T	ENST00000518156.2	+	3	1135	c.705C>T	c.(703-705)agC>agT	p.S235S	DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.3_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6			12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)				CTCATGAGAGCGACCCCCTCC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000518156.2	1	1	hg19	CCDS47647.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	1	0	0	91	283	0	58	0	0	0	1	0	58	2		0	0	0	0	0	2	1	1	88	277	0	58	2								-20.000000	1	0	121070	27	45	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLX6	1750	broad.mit.edu	37	7	96639212	96639212	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639212G>A	ENST00000518156.2	+	3	1165	c.735G>A	c.(733-735)tcG>tcA	p.S245S	DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.3_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6			12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)				CGGCCCTGTCGCCACGCTCGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000518156.2	1	1	hg19	CCDS47647.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	1	0	0	63	234	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	61	230	0	46	2								-20.000000	1	0	121204	1	30	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASNS	440	broad.mit.edu	37	7	97486013	97486013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97486013C>T	ENST00000394309.3	-	8	1490	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	ASNS_ENST00000455086.1_Missense_Mutation_p.R257H|ASNS_ENST00000175506.4_Missense_Mutation_p.R340H|ASNS_ENST00000437628.1_Missense_Mutation_p.R257H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)			1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)			Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TACTGAAGCACGAACTGTTGT	0.303000													Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)											0							SO:0001583	missense			ENST00000394309.3	1	1	hg19	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547255	0.86022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.37	4.37	0.52481	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76699	-0.2863	10	0.87932	D	0	-7.2549	15.2252	0.73345	0.0:1.0:0.0:0.0	.	340	P08243	ASNS_HUMAN	H	340;340;257;340;319;257;319	ENSP00000175506:R340H;ENSP00000377846:R340H;ENSP00000414379:R257H;ENSP00000377845:R340H;ENSP00000414901:R319H;ENSP00000408472:R257H;ENSP00000406994:R319H	ENSP00000175506:R340H	R	-	2	0	ASNS	97323949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.756000	0.74919	2.368000	0.80403	0.555000	0.69702	CGT		TCGA-IB-7651-01A-11D-2154-08	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	1	0	1	71	274	0	67	1	1	41	92	0	67	2		0	0	0	0	0	2	1	1	69	269	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASNS	440	broad.mit.edu	37	7	97498296	97498296	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498296C>T	ENST00000394309.3	-	3	644	c.173G>A	c.(172-174)gGa>gAa	p.G58E	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.G58E|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)			1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)			Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGCTGCATTCCAAACAGCGG	0.453000													Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)											0							SO:0001583	missense			ENST00000394309.3	1	1	hg19	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345652	0.82022	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.57907	0.4;0.4;0.4;0.37;0.37;0.58	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.054876	0.64402	D	0.000001	T	0.82038	0.4950	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88657	0.3186	10	0.87932	D	0	-17.7657	13.4946	0.61416	0.0:1.0:0.0:0.0	.	58	P08243	ASNS_HUMAN	E	58;58;58;37;37;58;58;58;37	ENSP00000175506:G58E;ENSP00000377846:G58E;ENSP00000377845:G58E;ENSP00000414901:G37E;ENSP00000406994:G37E;ENSP00000400422:G58E	ENSP00000175506:G58E	G	-	2	0	ASNS	97336232	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	GGA		TCGA-IB-7651-01A-11D-2154-08	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	1	0	1	93	293	0	64	1	1	68	132	0	64	2		0	0	0	0	0	2	1	1	93	288	0	64	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASNS	440	broad.mit.edu	37	7	97498323	97498323	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498323C>T	ENST00000394309.3	-	3	617	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.R49Q|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)			1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)			Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TACCGCCAACCGGTGAAATCC	0.448000													Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)											0							SO:0001583	missense			ENST00000394309.3	1	1	hg19	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145453	0.77888	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000422745;ENST00000444334;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000453600	T;T;T;T;T;T	0.69806	-0.2;-0.2;-0.2;-0.43;-0.43;-0.36	3.77	3.77	0.43336	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.89427	0.6712	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93390	0.6751	10	0.87932	D	0	-13.7033	13.4946	0.61416	0.0:1.0:0.0:0.0	.	49	P08243	ASNS_HUMAN	Q	49;49;49;28;28;49;49;49;28	ENSP00000175506:R49Q;ENSP00000377846:R49Q;ENSP00000377845:R49Q;ENSP00000414901:R28Q;ENSP00000406994:R28Q;ENSP00000400422:R49Q	ENSP00000175506:R49Q	R	-	2	0	ASNS	97336259	1.000000	0.71417	0.984000	0.44739	0.425000	0.31504	7.026000	0.76455	2.120000	0.65058	0.555000	0.69702	CGG		TCGA-IB-7651-01A-11D-2154-08	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	0	0	1	72	263	0	57	1	1	46	94	0	57	2		0	0	0	0	0	2	1	1	69	261	0	57	2								-3.439746	1	0	121412	1	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMTK2	22853	broad.mit.edu	37	7	97821008	97821008	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821008C>T	ENST00000297293.5	+	11	1524	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2			59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)				GACTTACCTGCGGCTGCAGAG	0.537000																								0							SO:0001583	missense			ENST00000297293.5	1	1	hg19	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936608	0.73442	.	.	ENSG00000164715	ENST00000297293	T	0.62788	-0.0	5.41	3.6	0.41247	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.78059	-0.2352	10	0.48119	T	0.1	.	14.3855	0.66942	0.2686:0.7314:0.0:0.0	.	411	Q8IWU2	LMTK2_HUMAN	W	411	ENSP00000297293:R411W	ENSP00000297293:R411W	R	+	1	2	LMTK2	97658944	1.000000	0.71417	0.829000	0.32907	0.781000	0.44180	4.639000	0.61361	0.767000	0.33267	-0.127000	0.14921	CGG		TCGA-IB-7651-01A-11D-2154-08	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1	39	212	0	44	1	9.720250e-01	13	21	0	44	2		0	0	0	0	0	2	1	1	38	208	0	44	2								-3.336488	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
LMTK2	22853	broad.mit.edu	37	7	97821797	97821797	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821797G>T	ENST00000297293.5	+	11	2313	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2			59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)				TTCCAGTTTGGATAACCCCAA	0.408000																								0							SO:0001583	missense			ENST00000297293.5	1	1	hg19	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172564	0.57584	.	.	ENSG00000164715	ENST00000297293	T	0.80393	-1.37	5.91	3.1	0.35709	.	0.619197	0.18351	N	0.143894	D	0.82820	0.5120	M	0.64997	1.995	0.09310	N	0.999999	D	0.58620	0.983	P	0.56865	0.808	T	0.72846	-0.4169	10	0.66056	D	0.02	.	6.1036	0.20061	0.2139:0.1357:0.6504:0.0	.	674	Q8IWU2	LMTK2_HUMAN	Y	674	ENSP00000297293:D674Y	ENSP00000297293:D674Y	D	+	1	0	LMTK2	97659733	0.984000	0.35163	0.009000	0.14445	0.988000	0.76386	2.183000	0.42565	0.384000	0.24942	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1	181	646	0	158	1	9.998924e-01	17	32	0	158	2		0	0	0	0	0	2	1	1	178	638	0	157	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMTK2	22853	broad.mit.edu	37	7	97822802	97822802	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97822802C>A	ENST00000297293.5	+	11	3318	c.3025C>A	c.(3025-3027)Cta>Ata	p.L1009I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2			59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)				CCACGAAGCGCTACTGGACTC	0.587000																								0							SO:0001583	missense			ENST00000297293.5	1	1	hg19	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	3.829	-0.036078	0.07497	.	.	ENSG00000164715	ENST00000297293	T	0.78126	-1.15	5.03	-2.43	0.06522	.	0.495348	0.19662	N	0.108944	T	0.66396	0.2785	L	0.48362	1.52	0.09310	N	1	P	0.42456	0.78	B	0.40636	0.335	T	0.61476	-0.7055	10	0.16896	T	0.51	.	12.0446	0.53473	0.0:0.6114:0.0:0.3886	.	1009	Q8IWU2	LMTK2_HUMAN	I	1009	ENSP00000297293:L1009I	ENSP00000297293:L1009I	L	+	1	2	LMTK2	97660738	0.012000	0.17670	0.000000	0.03702	0.004000	0.04260	0.226000	0.17776	-0.627000	0.05589	-0.312000	0.09012	CTA		TCGA-IB-7651-01A-11D-2154-08	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1	161	604	0	162	1	9.998582e-01	19	31	0	162	2		0	0	0	0	0	2	1	1	158	590	0	159	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMTK2	22853	broad.mit.edu	37	7	97823014	97823014	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823014C>T	ENST00000297293.5	+	11	3530	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2			59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)				CAGATGCCGGCGATGGTCACA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000297293.5	0	1	hg19	CCDS5654.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	0	0	0	5	188	0	30	1	4.011073e-01	3	43	0	30	2		0	0	0	0	0	2	1	9.366456e-01	5	186	0	30	2								-7.058610	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.340000	0.120000	1.000000	0.300000	0.391200	0.340000	0	2.100000e-01	5.400000e-01
LMTK2	22853	broad.mit.edu	37	7	97823515	97823515	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823515C>T	ENST00000297293.5	+	11	4031	c.3738C>T	c.(3736-3738)tcC>tcT	p.S1246S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2			59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)				TGGACAAGTCCCTGTCCAGCC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000297293.5	1	1	hg19	CCDS5654.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	1	44	184	0	38	1	9.999435e-01	30	35	0	38	2		0	0	0	0	0	2	1	1	43	177	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMTK2	22853	broad.mit.edu	37	7	97823692	97823692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823692C>T	ENST00000297293.5	+	11	4208	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2			59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)				ACCTGCATAGCCTCAGCTCCG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000297293.5	1	1	hg19	CCDS5654.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	1	0	0	50	459	0	88	1	9.595063e-01	14	36	0	88	2		0	0	0	0	0	2	1	1	50	454	0	85	2								-16.148130	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.880000	1.000000	1.000000	0.991303	0.990000	1	9.900000e-01	1
LMTK2	22853	broad.mit.edu	37	7	97832996	97832996	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97832996C>T	ENST00000297293.5	+	12	4511	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2			59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)				GCATCAACTCCGAAAGCTCCA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000297293.5	0	1	hg19	CCDS5654.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	0	0	0	7	207	0	41	1	2.251019e-01	2	22	0	41	2		0	0	0	0	0	2	1	9.804746e-01	7	205	0	41	2								-8.722563	1	1	121412	46	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.410000	0.180000	1.000000	0.370000	0.460462	0.410000	0	2.800000e-01	6.200000e-01
BHLHA15	168620	broad.mit.edu	37	7	97842100	97842100	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97842100C>A	ENST00000609256.1	+	2	605	c.479C>A	c.(478-480)gCt>gAt	p.A160D	BHLHA15_ENST00000314018.2_Missense_Mutation_p.A160D			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15								CAGCAGGTGGCTGGGGGTGCG	0.697000																								0							SO:0001583	missense			ENST00000609256.1	0	1	hg19	CCDS5655.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453234	0.26161	.	.	ENSG00000180535	ENST00000314018	D	0.93426	-3.22	3.97	1.97	0.26223	Helix-loop-helix DNA-binding (1);	0.839557	0.10493	N	0.668215	D	0.84848	0.5563	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.72590	-0.4247	10	0.31617	T	0.26	.	4.19	0.10416	0.2277:0.6506:0.0:0.1216	.	160	Q7RTS1	BHA15_HUMAN	D	160	ENSP00000326391:A160D	ENSP00000326391:A160D	A	+	2	0	BHLHA15	97680036	0.630000	0.27155	0.002000	0.10522	0.002000	0.02628	1.264000	0.33015	1.038000	0.40049	-0.339000	0.08088	GCT		TCGA-IB-7651-01A-11D-2154-08	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472733.1	0	0	0	5	16	0	8	1	9.460833e-01	3	18	0	8	2		0	0	0	0	0	2	1	9.293570e-01	4	15	0	8	2								-15.134910	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.850000	1.000000	1.000000	0.991115	0.990000	1	9.900000e-01	1
TECPR1	25851	broad.mit.edu	37	7	97858364	97858364	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97858364G>A	ENST00000447648.2	-	16	2696	c.2397C>T	c.(2395-2397)ggC>ggT	p.G799G	TECPR1_ENST00000542604.1_Silent_p.G729G|TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Silent_p.G800G			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1			26					GGAAGCAGCCGCCTCCATAGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000447648.2	0	1	hg19	CCDS47648.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	0	0	0	6	46	0	13	1	9.149897e-01	7	30	0	13	2		0	0	0	0	0	2	1	9.638568e-01	5	45	0	13	2								-12.837230	1	1	119946	1	28	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.590000	1.000000	1.000000	0.956683	0.990000	1	9.100000e-01	1
TECPR1	25851	broad.mit.edu	37	7	97872882	97872882	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97872882T>C	ENST00000447648.2	-	6	853	c.554A>G	c.(553-555)aAg>aGg	p.K185R	TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R|TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1			26					GGGCAGCTCCTTGGGGTCATC	0.647000																								0							SO:0001583	missense			ENST00000447648.2	1	1	hg19	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979333	0.34942	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.30714	1.52;1.52;1.52	5.27	5.27	0.74061	.	0.526566	0.22848	N	0.054895	T	0.20047	0.0482	N	0.19112	0.55	0.25899	N	0.983377	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.002	T	0.12553	-1.0543	10	0.12430	T	0.62	-23.8156	14.4017	0.67050	0.0:0.0:0.0:1.0	.	106;185	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	R	185;185;106	ENSP00000404923:K185R;ENSP00000369121:K185R;ENSP00000441121:K106R	ENSP00000369121:K185R	K	-	2	0	TECPR1	97710818	0.375000	0.25089	0.980000	0.43619	0.924000	0.55760	1.915000	0.39976	2.001000	0.58596	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	1	0	0	9	232	0	46	0	4.668693e-01	1	38	0	46	2		0	0	0	0	0	2	1	9.936717e-01	9	225	0	46	2								-11.148210	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.460000	0.220000	1.000000	0.430000	0.506520	0.460000	0	3.300000e-01	6.600000e-01
TRRAP	8295	broad.mit.edu	37	7	98497112	98497112	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98497112T>C	ENST00000359863.4	+	9	910	c.701T>C	c.(700-702)tTa>tCa	p.L234S	TRRAP_ENST00000446306.3_Missense_Mutation_p.L234S|TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		ATTGTTGTTTTAATGTATCAG	0.413000																								0							SO:0001583	missense			ENST00000359863.4	1	1	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654112	0.67472	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03181	4.03;4.02	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.56097	D	0.000026	T	0.12689	0.0308	L	0.46567	1.45	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.08371	-1.0725	10	0.32370	T	0.25	.	15.5558	0.76192	0.0:0.0:0.0:1.0	.	234;234	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	S	234	ENSP00000352925:L234S;ENSP00000347733:L234S	ENSP00000347733:L234S	L	+	2	0	TRRAP	98335048	1.000000	0.71417	0.875000	0.34327	0.971000	0.66376	7.915000	0.87484	2.136000	0.66102	0.379000	0.24179	TTA		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	97	440	0	83	1	9.357310e-01	8	15	0	83	2		0	0	0	0	0	2	1	1	96	434	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98522833	98522833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98522833G>A	ENST00000359863.4	+	22	3131	c.2922G>A	c.(2920-2922)atG>atA	p.M974I	TRRAP_ENST00000446306.3_Missense_Mutation_p.M973I|TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		TGGTGGCCATGATGAGCCTGG	0.557000																								0							SO:0001583	missense			ENST00000359863.4	1	1	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807794	0.70797	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02763	4.17;4.17	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	L	0.50333	1.59	0.80722	D	1	B;B;B	0.31026	0.304;0.031;0.131	B;B;B	0.26517	0.07;0.026;0.044	T	0.52230	-0.8603	10	0.23891	T	0.37	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	974;688;974	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	974;974;972	ENSP00000352925:M974I;ENSP00000347733:M974I	ENSP00000347733:M974I	M	+	3	0	TRRAP	98360769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.728000	0.98792	2.941000	0.99782	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	102	430	0	128	1	9.992577e-01	12	35	0	128	2		0	0	0	0	0	2	1	1	102	418	0	128	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98527811	98527811	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98527811C>T	ENST00000359863.4	+	24	3584	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I	TRRAP_ENST00000446306.3_Silent_p.I1124I|TRRAP_ENST00000355540.3_Silent_p.I1125I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		CAAGTATCATCCTGGGCTCCA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000359863.4	0	1	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147083	0.21288	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.39	4.51	0.55191	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60464	-0.7258	4	.	.	.	.	10.7312	0.46098	0.0:0.8531:0.0:0.1469	.	.	.	.	F	840	.	.	S	+	2	0	TRRAP	98365747	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.593000	0.23999	1.410000	0.46936	0.491000	0.48974	TCC		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	0	0	0	9	354	0	57	0	2.008677e-01	1	29	0	57	2		0	0	0	0	0	2	1	9.936745e-01	9	345	0	53	2								-8.937101	1	1	121412	1	25	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.310000	0.150000	1.000000	0.290000	0.357946	0.310000	0	2.200000e-01	4.500000e-01
TRRAP	8295	broad.mit.edu	37	7	98535413	98535413	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535413C>T	ENST00000359863.4	+	30	4583	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	TRRAP_ENST00000446306.3_Silent_p.S1457S|TRRAP_ENST00000355540.3_Silent_p.S1458S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		TCCCAAATTCCTTCAATGATA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000359863.4	1	1	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256147	0.22965	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.08	3.11	0.35812	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	.	7.5057	0.27542	0.0:0.6585:0.1185:0.2229	.	.	.	.	L	1173	.	.	P	+	2	0	TRRAP	98373349	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.394000	0.20834	0.837000	0.34925	-0.345000	0.07892	CCT		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	47	179	0	36	1	9.629296e-01	4	19	0	36	2		0	0	0	0	0	2	1	1	47	176	0	36	2								-3.366561	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98535441	98535441	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535441A>G	ENST00000359863.4	+	30	4611	c.4402A>G	c.(4402-4404)Atg>Gtg	p.M1468V	TRRAP_ENST00000446306.3_Missense_Mutation_p.M1467V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		TGATCAGATGATGGTAAGCCA	0.393000																								0							SO:0001583	missense			ENST00000359863.4	1	1	hg19	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.10|18.10	3.547699|3.547699	0.65311|0.65311	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.63417|.	-0.04;-0.04|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56804|.	0.2010|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26775|.	0.159;0.065;0.122|.	B;B;B|.	0.23018|.	0.043;0.016;0.029|.	T|.	0.52533|.	-0.8563|.	10|.	0.87932|.	D|.	0|.	.|.	16.6438|16.6438	0.85155|0.85155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1468;1182;1468|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1468;1468;1466|1182	ENSP00000352925:M1468V;ENSP00000347733:M1468V|.	ENSP00000347733:M1468V|.	M|X	+|+	1|3	0|0	TRRAP|TRRAP	98373377|98373377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.224000|9.224000	0.95209|0.95209	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATG|TGA		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	41	155	0	29	1	9.551708e-01	2	20	0	29	2		0	0	0	0	0	2	1	1	41	149	0	29	2								-20.000000	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98550854	98550854	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98550854C>A	ENST00000359863.4	+	39	5716	c.5507C>A	c.(5506-5508)gCc>gAc	p.A1836D	TRRAP_ENST00000446306.3_Missense_Mutation_p.A1817D|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		CTGCAGTACGCCACGCTGCTG	0.622000																								0							SO:0001583	missense			ENST00000359863.4	1	1	hg19	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.891159|4.891159	0.91889|0.91889	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65732|.	-0.17;-0.17|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.055467|.	0.64402|.	D|.	0.000001|.	T|T	0.74535|0.74535	0.3729|0.3729	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40398|.	0.688;0.716;0.561|.	B;B;B|.	0.36030|.	0.216;0.116;0.116|.	T|T	0.70673|0.70673	-0.4807|-0.4807	10|5	0.66056|.	D|.	0.02|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1818;1557;1836|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	D|T	1836;1818;1816|1558	ENSP00000352925:A1836D;ENSP00000347733:A1818D|.	ENSP00000347733:A1818D|.	A|P	+|+	2|1	0|0	TRRAP|TRRAP	98388790|98388790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GCC|CCA		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	63	251	0	61	1	9.985767e-01	6	36	0	61	2		0	0	0	0	0	2	1	1	62	244	0	61	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98552800	98552800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552800C>T	ENST00000359863.4	+	40	5998	c.5789C>T	c.(5788-5790)gCg>gTg	p.A1930V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A1911V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1912V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		CTGACCCCGGCGGTGCCGGCC	0.592000																								0							SO:0001583	missense			ENST00000359863.4	0	1	hg19	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.203775|5.203775	0.95033|0.95033	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.51071|.	0.72;0.72|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72203|0.72203	0.3431|0.3431	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;B;B|.	0.61697|.	0.99;0.125;0.294|.	B;B;B|.	0.43623|.	0.425;0.033;0.033|.	T|T	0.68484|0.68484	-0.5396|-0.5396	10|5	0.15952|.	T|.	0.53|.	.|.	19.5376|19.5376	0.95260|0.95260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1912;1651;1930|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1930;1912;1910|1652	ENSP00000352925:A1930V;ENSP00000347733:A1912V|.	ENSP00000347733:A1912V|.	A|R	+|+	2|1	0|2	TRRAP|TRRAP	98390736|98390736	1.000000|1.000000	0.71417|0.71417	0.238000|0.238000	0.24106|0.24106	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	0	0	0	9	288	0	46	1	3.910269e-01	2	39	0	46	2		0	0	0	0	0	2	1	9.939570e-01	7	285	0	45	2								-9.603015	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.380000	0.180000	1.000000	0.350000	0.423573	0.380000	0	2.600000e-01	5.400000e-01
TRRAP	8295	broad.mit.edu	37	7	98552885	98552885	+	Silent	SNP	G	G	A	rs143014711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552885G>A	ENST00000359863.4	+	40	6083	c.5874G>A	c.(5872-5874)ccG>ccA	p.P1958P	TRRAP_ENST00000446306.3_Silent_p.P1939P|TRRAP_ENST00000355540.3_Silent_p.P1940P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		ACACCGTCCCGCAGCTGGTCC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000359863.4	1	1	hg19	CCDS59066.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.528	0.098067	0.08681	2.27E-4	0.0	ENSG00000196367	ENST00000456197	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58205	-0.7677	4	.	.	.	.	1.8097	0.03088	0.3324:0.1798:0.3146:0.1732	.	.	.	.	H	1680	.	.	R	+	2	0	TRRAP	98390821	0.000000	0.05858	0.027000	0.17364	0.630000	0.37929	-2.283000	0.01155	-5.225000	0.00019	-1.446000	0.01064	CGC		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	28	175	0	47	1	9.690580e-01	11	27	0	47	2		0	0	0	0	0	2	1	1	26	174	0	47	2								-2.926498	1	0	121412	9	37	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999648	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98562313	98562313	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98562313C>T	ENST00000359863.4	+	47	7079	c.6870C>T	c.(6868-6870)atC>atT	p.I2290I	TRRAP_ENST00000446306.3_Silent_p.I2271I|TRRAP_ENST00000355540.3_Silent_p.I2272I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		ACAGGCTGATCTCCGTCTTTA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000359863.4	1	1	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253478	0.10185	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.17	0.596	0.17496	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	.	5.1622	0.15068	0.1358:0.4366:0.0:0.4276	.	.	.	.	F	2012	.	.	S	+	2	0	TRRAP	98400249	0.993000	0.37304	0.990000	0.47175	0.494000	0.33585	0.338000	0.19858	0.246000	0.21394	-0.793000	0.03317	TCT		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	89	316	0	59	1	9.999947e-01	16	49	0	59	2		0	0	0	0	0	2	1	1	88	308	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98565232	98565232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98565232C>T	ENST00000359863.4	+	50	7611	c.7402C>T	c.(7402-7404)Cgt>Tgt	p.R2468C	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		CTCCATGAAACGTCGTGTCTA	0.532000																								0							SO:0001583	missense			ENST00000359863.4	1	1	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537194	0.96460	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03386	3.95;3.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.966;0.88;0.932	T	0.00002	-1.2633	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2450;2189;2468	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2468;2450;2449	ENSP00000352925:R2468C;ENSP00000347733:R2450C	ENSP00000347733:R2450C	R	+	1	0	TRRAP	98403168	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	5.970000	0.70431	2.941000	0.99782	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	0	26	353	0	71	1	7.340117e-01	3	34	0	71	2		0	0	0	0	0	2	1	9.999999e-01	26	348	0	71	2								-20.000000	1	1	121412	1	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.820000	0.550000	1.000000	1.000000	0.826454	0.820000	0	6.700000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98588118	98588118	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98588118T>C	ENST00000359863.4	+	63	9853	c.9644T>C	c.(9643-9645)tTg>tCg	p.L3215S	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		AAAAACACTTTGGCAGATGCC	0.507000																								0							SO:0001583	missense			ENST00000359863.4	1	1	hg19	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.7|26.7	4.764004|4.764004	0.89932|0.89932	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.04275|.	3.66;3.66|.	5.67|5.67	5.67|5.67	0.87782|0.87782	PIK-related kinase (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.84656|0.84656	0.5520|0.5520	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.997|.	D;D;D|.	0.76071|.	0.987;0.944;0.944|.	D|D	0.88106|0.88106	0.2822|0.2822	10|5	0.87932|.	D|.	0|.	.|.	15.9056|15.9056	0.79427|0.79427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3186;2925;3215|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|R	3215;3186;3185|2926	ENSP00000352925:L3215S;ENSP00000347733:L3186S|.	ENSP00000347733:L3186S|.	L|W	+|+	2|1	0|0	TRRAP|TRRAP	98426054|98426054	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.157000|2.157000	0.67596|0.67596	0.533000|0.533000	0.62120|0.62120	TTG|TGG		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	87	353	0	87	1	9.999961e-01	18	57	0	87	2		0	0	0	0	0	2	1	1	85	344	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98592299	98592299	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592299C>T	ENST00000359863.4	+	66	10304	c.10095C>T	c.(10093-10095)ccC>ccT	p.P3365P	TRRAP_ENST00000446306.3_Silent_p.P3354P|TRRAP_ENST00000355540.3_Silent_p.P3336P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		AAATCACCCCCCACACTCTCA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000359863.4	1	1	hg19	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.904	0.957124	0.18507	.	.	ENSG00000196367	ENST00000456197	T	0.03124	4.04	5.05	-8.0	0.01126	.	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	7	0.49607	T	0.09	.	1.4586	0.02391	0.1617:0.2501:0.2958:0.2925	.	.	.	.	L	3094	ENSP00000394645:P3094L	ENSP00000394645:P3094L	P	+	2	0	TRRAP	98430235	0.000000	0.05858	0.884000	0.34674	0.963000	0.63663	-2.000000	0.01466	-1.255000	0.02481	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	262	1050	0	233	1	9.999999e-01	23	67	0	233	2		0	0	0	0	0	2	1	1	255	1035	0	229	2								-3.180492	1	0	121412	1	35	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRRAP	8295	broad.mit.edu	37	7	98592415	98592415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592415C>T	ENST00000359863.4	+	66	10420	c.10211C>T	c.(10210-10212)gCg>gTg	p.A3404V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		GCCCGGCGGGCGCAGGCCACT	0.572000																								0							SO:0001583	missense			ENST00000359863.4	1	1	hg19	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.727156|5.727156	0.96847|0.96847	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03212|.	4.01;4.02|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71550|0.71550	0.3353|0.3353	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.993;0.997|.	P;B;P|.	0.59221|.	0.854;0.427;0.719|.	T|T	0.68273|0.68273	-0.5452|-0.5452	10|5	0.44086|.	T|.	0.13|.	.|.	19.2202|19.2202	0.93793|0.93793	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3375;3132;3404|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	3404;3375;3392|3133	ENSP00000352925:A3404V;ENSP00000347733:A3375V|.	ENSP00000347733:A3375V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98430351|98430351	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.529000|2.529000	0.85273|0.85273	0.561000|0.561000	0.74099|0.74099	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	1	170	906	0	163	1	9.999695e-01	24	55	0	163	2		0	0	0	0	0	2	1	1	168	892	0	161	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARPC1A	10552	broad.mit.edu	37	7	98946483	98946483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98946483G>A	ENST00000262942.5	+	5	525	c.401G>A	c.(400-402)aGc>aAc	p.S134N	ARPC1A_ENST00000432884.2_Missense_Mutation_p.S87N	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa			19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)		AGGTGGGTGAGCAAGCACATT	0.463000																								0							SO:0001583	missense			ENST00000262942.5	0	1	hg19	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056792	0.76074	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66460	-0.21;-0.21	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	H	0.95151	3.63	0.80722	D	1	D;D	0.64830	0.994;0.985	D;D	0.68943	0.961;0.95	D	0.90208	0.4262	10	0.56958	D	0.05	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	129;134	Q53GB6;Q92747	.;ARC1A_HUMAN	N	87;134	ENSP00000408578:S87N;ENSP00000262942:S134N	ENSP00000262942:S134N	S	+	2	0	ARPC1A	98784419	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.835000	0.99442	2.646000	0.89796	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	0	0	0	13	351	0	68	1	9.996661e-01	14	366	0	68	2		0	0	0	0	0	2	1	9.994844e-01	12	344	0	67	2								-13.039370	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.440000	0.240000	1.000000	0.410000	0.477676	0.440000	0	3.300000e-01	5.900000e-01
ZNF394	84124	broad.mit.edu	37	7	99097579	99097579	+	Silent	SNP	G	G	A	rs142631169	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99097579G>A	ENST00000337673.6	-	1	341	c.138C>T	c.(136-138)ccC>ccT	p.P46P	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394			16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)				CCCAACTTCCGGGTGAGTCTT	0.637000													Ovarian(24;589 697 9939 12704 40742)											0							SO:0001819	synonymous_variant			ENST00000337673.6	1	1	hg19	CCDS5666.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	1	0	0	71	324	0	66	1	9.999757e-01	22	51	0	66	2		0	0	0	0	0	2	1	1	70	319	0	66	2								-2.721372	1	0	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN5	23660	broad.mit.edu	37	7	99103950	99103950	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99103950C>T	ENST00000394170.2	+	2	534	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ZKSCAN5_ENST00000326775.5_Silent_p.L95L|ZKSCAN5_ENST00000451158.1_Silent_p.L95L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5			21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)				GCTGCTGGTGCTGGAGCAGTT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000394170.2	1	1	hg19	CCDS5667.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	1	0	0	99	441	0	135	1	9.683501e-01	6	21	0	135	2		0	0	0	0	0	2	1	1	98	436	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZKSCAN5	23660	broad.mit.edu	37	7	99123455	99123455	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99123455T>C	ENST00000394170.2	+	6	1043	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ZKSCAN5_ENST00000326775.5_Silent_p.N264N|ZKSCAN5_ENST00000451158.1_Silent_p.N264N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5			21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)				CCAGGGACAATATGGAGCTCA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000394170.2	1	1	hg19	CCDS5667.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	1	0	0	125	478	0	138	1	9.971109e-01	14	22	0	138	2		0	0	0	0	0	2	1	1	124	469	0	138	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM200A	221786	broad.mit.edu	37	7	99146025	99146025	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99146025A>G	ENST00000449309.1	-	2	385	c.6T>C	c.(4-6)acT>acC	p.T2T		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A			11					TTGATTCAGGAGTCATTATTC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000449309.1	1	1	hg19	CCDS5668.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	1	0	1	56	207	0	58	1	8.299476e-01	4	10	0	58	2		0	0	0	0	0	2	1	1	56	205	0	58	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP3A7	1551	broad.mit.edu	37	7	99306847	99306847	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99306847T>C	ENST00000336374.2	-	11	1066	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7			32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)			Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CATGTCAAGATACTCCAACTG	0.368000																								0							SO:0001583	missense			ENST00000336374.2	1	1	hg19	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	t	12.29	1.894344	0.33442	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.76186	-1.0	3.46	3.46	0.39613	.	0.060024	0.64402	N	0.000002	D	0.91229	0.7236	H	0.99368	4.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92453	0.5971	10	0.87932	D	0	.	10.1349	0.42701	0.0:0.0:0.0:1.0	.	355	P24462	CP3A7_HUMAN	C	355	ENSP00000337450:Y355C	ENSP00000292414:Y355C	Y	-	2	0	CYP3A7	99144783	1.000000	0.71417	0.714000	0.30535	0.045000	0.14185	7.649000	0.83500	1.335000	0.45486	0.254000	0.18369	TAT		TCGA-IB-7651-01A-11D-2154-08	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1	1	0	1	31	301	0	77	1	1.075824e-01	2	4	0	77	2		0	0	0	0	0	2	1	1	31	297	0	77	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.770000	1.000000	1.000000	0.973511	0.990000	1	9.300000e-01	1
CYP3A7	1551	broad.mit.edu	37	7	99313450	99313450	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99313450C>A	ENST00000336374.2	-	7	603	c.601G>T	c.(601-603)Gac>Tac	p.D201Y	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7			32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)			Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ACAAAGGGGTCTTGTGGATTG	0.428000																								0							SO:0001583	missense			ENST00000336374.2	1	1	hg19	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739833	0.30865	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69435	-0.4	4.22	2.38	0.29361	.	0.155454	0.64402	D	0.000015	D	0.84808	0.5554	H	0.96015	3.755	0.46113	D	0.998871	D	0.89917	1.0	D	0.87578	0.998	D	0.84182	0.0440	10	0.72032	D	0.01	.	8.3536	0.32316	0.0:0.7975:0.0:0.2025	.	201	P24462	CP3A7_HUMAN	Y	201	ENSP00000337450:D201Y	ENSP00000292414:D201Y	D	-	1	0	CYP3A7	99151386	0.976000	0.34144	0.007000	0.13788	0.002000	0.02628	2.482000	0.45224	0.335000	0.23614	-0.266000	0.10368	GAC		TCGA-IB-7651-01A-11D-2154-08	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1	1	0	1	163	564	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1	153	553	0	152	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP3A43	64816	broad.mit.edu	37	7	99454485	99454485	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99454485C>T	ENST00000354829.2	+	9	931	c.828C>T	c.(826-828)atC>atT	p.I276I	CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Silent_p.I23I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43			19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)			Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	AACAGATGATCGACTCCCAGA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000354829.2	1	1	hg19	CCDS5676.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1	1	0	1	99	419	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1	98	408	0	145	2								-20.000000	1	1	121410	2	31	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2AE1	81392	broad.mit.edu	37	7	99474422	99474422	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99474422G>T	ENST00000316368.2	-	1	258	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1			11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				GCCATCTTCAGGATGATTGTG	0.478000																								0							SO:0001583	missense			ENST00000316368.2	1	1	hg19	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473671	0.26423	.	.	ENSG00000244623	ENST00000316368	T	0.00397	7.57	3.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.189811	0.26082	N	0.026448	T	0.00241	0.0007	N	0.24115	0.695	0.30255	N	0.793721	B	0.22080	0.064	B	0.09377	0.004	T	0.42378	-0.9455	10	0.87932	D	0	.	13.5959	0.61988	0.0:0.0:1.0:0.0	.	79	Q8NHA4	O2AE1_HUMAN	M	79	ENSP00000313936:L79M	ENSP00000313936:L79M	L	-	1	2	OR2AE1	99312358	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	5.722000	0.68485	2.321000	0.78463	0.501000	0.49751	CTG		TCGA-IB-7651-01A-11D-2154-08	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1	1	0	1	71	296	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	67	290	0	79	2								-3.295334	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM4	89122	broad.mit.edu	37	7	99489912	99489912	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99489912G>T	ENST00000355947.2	-	7	1506	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4			17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)			CAGCGCTGTAGAAGGAGACAT	0.537000																								0							SO:0001583	missense			ENST00000355947.2	1	1	hg19	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609670	0.66558	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	D;D	0.89343	-2.5;-2.5	2.64	2.64	0.31445	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.92289	0.7554	M	0.90309	3.105	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.55087	0.656;0.768	D	0.91861	0.5499	9	0.87932	D	0	.	5.5083	0.16866	0.1527:0.0:0.8473:0.0	.	433;459	Q9C037-2;Q9C037	.;TRIM4_HUMAN	L	459;433;289	ENSP00000348216:F459L;ENSP00000275736:F433L	ENSP00000275736:F433L	F	-	3	2	TRIM4	99327848	1.000000	0.71417	0.919000	0.36401	0.878000	0.50629	1.115000	0.31209	1.806000	0.52798	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	1	0	1	184	801	0	201	1	1	52	145	0	201	2		0	0	0	0	0	2	1	1	181	783	0	200	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AZGP1	563	broad.mit.edu	37	7	99564826	99564826	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99564826C>A	ENST00000292401.4	-	4	833	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding			16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				TCAATTTTCCCTGGGTAGAAG	0.557000																								0							SO:0001583	missense			ENST00000292401.4	0	1	hg19	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017950	0.07681	.	.	ENSG00000160862	ENST00000292401;ENST00000419575	T	0.14766	2.48	2.34	0.137	0.14787	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.824850	0.03891	U	0.278723	T	0.30634	0.0771	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	D	0.67382	0.951	T	0.12016	-1.0564	10	0.87932	D	0	.	5.775	0.18273	0.0:0.4082:0.395:0.1968	.	233	P25311	ZA2G_HUMAN	W	233;83	ENSP00000292401:G233W	ENSP00000292401:G233W	G	-	1	0	AZGP1	99402762	0.000000	0.05858	0.080000	0.20451	0.126000	0.20510	-0.163000	0.09997	-0.146000	0.11274	-0.802000	0.03209	GGG		TCGA-IB-7651-01A-11D-2154-08	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	1	0	1	25	154	0	31	1	1	58	198	0	31	2		0	0	0	0	0	2	1	9.999998e-01	24	145	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999511	0.990000	1	9.900000e-01	1
ZSCAN21	7589	broad.mit.edu	37	7	99654990	99654990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99654990G>A	ENST00000292450.4	+	2	525	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21			21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)		CACTCTCCTCGAAGATCTGGA	0.577000																								0							SO:0001583	missense			ENST00000292450.4	1	1	hg19	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419351	0.83559	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.77	4.77	0.60923	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.34314	N	0.004062	T	0.45935	0.1367	H	0.95745	3.715	0.39713	D	0.971369	P;D	0.89917	0.883;1.0	P;D	0.85130	0.574;0.997	T	0.63363	-0.6654	10	0.87932	D	0	.	15.6623	0.77197	0.0:0.0:1.0:0.0	.	121;121	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	K	121;121;121;121;96	ENSP00000441212:E121K;ENSP00000292450:E121K;ENSP00000390960:E121K;ENSP00000404207:E121K	ENSP00000292450:E121K	E	+	1	0	ZSCAN21	99492926	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	3.377000	0.52425	2.634000	0.89283	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	1	0	1	60	196	0	50	1	9.894712e-01	4	22	0	50	2		0	0	0	0	0	2	1	1	58	193	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF3	7551	broad.mit.edu	37	7	99669413	99669413	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669413C>T	ENST00000424697.1	-	6	1000	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ZNF3_ENST00000303915.6_Missense_Mutation_p.E232K|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	p.E232K(1)		25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)		TTCCCACACTCATTACATTCA	0.433000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000424697.1	1	1	hg19	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252671	0.59212	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.16769	0.0403	L	0.28344	0.845	0.09310	N	1	D;D	0.56746	0.962;0.977	P;D	0.65684	0.702;0.937	T	0.02214	-1.1194	10	0.87932	D	0	-25.5551	15.3141	0.74059	0.0:1.0:0.0:0.0	.	215;232	B3KRP4;P17036	.;ZNF3_HUMAN	K	232	ENSP00000415358:E232K;ENSP00000306372:E232K;ENSP00000299667:E232K	ENSP00000299667:E232K	E	-	1	0	ZNF3	99507349	0.002000	0.14202	0.990000	0.47175	0.993000	0.82548	0.506000	0.22658	2.568000	0.86640	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	1	0	1	83	340	0	98	1	9.981230e-01	10	31	0	98	2		0	0	0	0	0	2	1	1	80	332	0	96	2								-3.396061	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF3	7551	broad.mit.edu	37	7	99669525	99669525	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669525G>A	ENST00000424697.1	-	6	888	c.582C>T	c.(580-582)ccC>ccT	p.P194P	ZNF3_ENST00000303915.6_Silent_p.P194P|ZNF3_ENST00000299667.4_Silent_p.P194P|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3			25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)		TGTCTCCCACGGGGAGTCTCT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000424697.1	1	1	hg19	CCDS43619.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	1	0	1	124	452	0	105	1	9.999847e-01	11	49	0	105	2		0	0	0	0	0	2	1	1	118	443	0	104	2								-2.979038	1	1	121052	7	42	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF3	7551	broad.mit.edu	37	7	99669691	99669691	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669691G>A	ENST00000424697.1	-	6	722	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZNF3_ENST00000303915.6_Missense_Mutation_p.P139L|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3			25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)		GTTCCCCAGCGGCCTTTTCAG	0.478000																								0							SO:0001583	missense			ENST00000424697.1	1	1	hg19	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007373	0.02112	0.0	4.9E-4	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683	T;T;T;T;T;T	0.06218	3.33;3.33;3.33;5.18;5.32;5.32	4.58	3.43	0.39272	.	0.418084	0.20469	N	0.091721	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.006	B;B	0.09377	0.004;0.001	T	0.40590	-0.9555	10	0.38643	T	0.18	-8.6936	9.6919	0.40134	0.0:0.0:0.1853:0.8147	.	122;139	B3KRP4;P17036	.;ZNF3_HUMAN	L	139;139;139;103;139;139	ENSP00000415358:P139L;ENSP00000306372:P139L;ENSP00000299667:P139L;ENSP00000416088:P103L;ENSP00000405970:P139L;ENSP00000388042:P139L	ENSP00000299667:P139L	P	-	2	0	ZNF3	99507627	0.000000	0.05858	0.969000	0.41365	0.192000	0.23643	0.767000	0.26575	0.911000	0.36747	-0.500000	0.04577	CCG		TCGA-IB-7651-01A-11D-2154-08	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	1	0	1	109	508	0	117	1	9.999740e-01	23	49	0	117	2		0	0	0	0	0	2	1	1	108	497	0	117	2								-2.876240	1	1	120844	10	44	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COPS6	10980	broad.mit.edu	37	7	99688878	99688878	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99688878G>T	ENST00000303904.3	+	8	704	c.667G>T	c.(667-669)Gca>Tca	p.A223S	MIR106B_ENST00000385301.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.A222S|MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6			12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)		ACACCTGATAGCACAGCACAG	0.577000																								0							SO:0001583	missense			ENST00000303904.3	1	1	hg19	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657380	0.67586	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.46451	0.87;0.87	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.56124	1.755	0.80722	D	1	P	0.41498	0.752	P	0.46452	0.517	T	0.19353	-1.0308	10	0.10377	T	0.69	-24.5327	15.6886	0.77430	0.0:0.0:1.0:0.0	.	223	Q7L5N1	CSN6_HUMAN	S	223;222	ENSP00000304102:A223S;ENSP00000400617:A222S	ENSP00000304102:A223S	A	+	1	0	COPS6	99526814	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.430000	0.90283	2.556000	0.86216	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	1	0	1	193	990	0	268	1	1	164	464	0	268	2		0	0	0	0	0	2	1	1	187	888	0	243	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCM7	4176	broad.mit.edu	37	7	99691794	99691794	+	Splice_Site	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99691794A>T	ENST00000303887.5	-	13	2494		c.e13+1		MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000354230.3_Splice_Site	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7			17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				TTGGGCACTTACCAGAGCAGT	0.587000																								0							SO:0001630	splice_region_variant			ENST00000303887.5	1	1	hg19	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905618	0.33628	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	5.21	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.483	0.38913	0.9138:0.0:0.0862:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM7	99529730	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.466000	0.66731	2.193000	0.70182	0.459000	0.35465	.		TCGA-IB-7651-01A-11D-2154-08	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3	1	0	1	103	536	0	113	1	7.085800e-02	2	1	0	113	2		0	0	0	0	0	2	1	1	101	525	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF6	6878	broad.mit.edu	37	7	99704934	99704934	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99704934C>A	ENST00000344095.4	-	15	2494	c.1969G>T	c.(1969-1971)Gct>Tct	p.A657S	TAF6_ENST00000437822.2_Missense_Mutation_p.A694S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.A657S|TAF6_ENST00000472509.1_Missense_Mutation_p.A714S|TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa			26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				GTCCCTGGAGCTGGAGGGGGA	0.667000																								0							SO:0001583	missense			ENST00000344095.4	1	1	hg19	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699128	0.68501	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.52526	0.74;0.66;0.74;0.74;0.69	5.52	4.64	0.57946	.	0.000000	0.49305	D	0.000145	T	0.26629	0.0651	N	0.08118	0	0.27046	N	0.963891	B;B;B;B;B	0.30914	0.3;0.201;0.127;0.127;0.127	B;B;B;B;B	0.32211	0.067;0.142;0.039;0.039;0.067	T	0.15896	-1.0421	10	0.25106	T	0.35	-19.4876	10.343	0.43891	0.0:0.9118:0.0:0.0882	.	694;647;647;657;581	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	S	657;714;657;657;581;694	ENSP00000389575:A657S;ENSP00000419760:A714S;ENSP00000416396:A657S;ENSP00000344537:A657S;ENSP00000399982:A694S	ENSP00000344537:A657S	A	-	1	0	TAF6	99542870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.084000	0.57650	1.569000	0.49696	0.643000	0.83706	GCT		TCGA-IB-7651-01A-11D-2154-08	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	0	0	0	9	269	0	42	1	9.694833e-01	9	171	0	42	2		0	0	0	0	0	2	1	9.943349e-01	10	267	0	42	2								-10.641960	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.400000	0.190000	1.000000	0.370000	0.448092	0.400000	0	2.800000e-01	5.800000e-01
C7orf43	55262	broad.mit.edu	37	7	99754149	99754149	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754149C>T	ENST00000316937.3	-	8	1285	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000394035.2_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	p.R367H(1)		10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				AAAACACGGGCGGTCCAAGCG	0.557000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000316937.3	1	1	hg19	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833326	0.71258	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.55760	0.54;0.5;0.53	5.71	5.71	0.89125	.	0.071085	0.56097	D	0.000030	T	0.53997	0.1831	N	0.19112	0.55	0.45676	D	0.998596	D;D	0.69078	0.991;0.997	P;P	0.55391	0.662;0.775	T	0.59144	-0.7509	10	0.87932	D	0	-17.2422	17.3306	0.87262	0.0:1.0:0.0:0.0	.	135;367	E9PFF9;Q8WVR3	.;CG043_HUMAN	H	98;367;135	ENSP00000396432:R98H;ENSP00000324741:R367H;ENSP00000406326:R135H	ENSP00000324741:R367H	R	-	2	0	C7orf43	99592085	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.133000	0.64764	2.702000	0.92279	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	1	0	1	41	139	0	27	1	9.999845e-01	16	46	0	27	2		0	0	0	0	0	2	1	1	36	138	0	27	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C7orf43	55262	broad.mit.edu	37	7	99754543	99754543	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754543C>T	ENST00000316937.3	-	6	1103	c.918G>A	c.(916-918)ccG>ccA	p.P306P	C7orf43_ENST00000419841.1_Silent_p.P74P|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.P37P|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000394035.2_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43			10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				GGGCATTCAGCGGGCAGGGGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000316937.3	1	1	hg19	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965655	0.18583	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.58	-8.24	0.01029	.	.	.	.	.	T	0.47322	0.1439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55560	-0.8122	4	.	.	.	-6.2269	8.0696	0.30680	0.2449:0.5458:0.0:0.2093	.	.	.	.	T	212	.	.	A	-	1	0	C7orf43	99592479	0.002000	0.14202	0.911000	0.35937	0.837000	0.47467	-1.707000	0.01893	-0.841000	0.04200	-0.487000	0.04747	GCT		TCGA-IB-7651-01A-11D-2154-08	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	0	0	0	18	513	0	108	0	5.049911e-01	1	47	0	108	2		0	0	0	0	0	2	1	9.999798e-01	18	505	0	108	2								-3.044780	1	1	121412	3	39	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.410000	0.240000	1.000000	0.390000	0.450573	0.410000	0	3.200000e-01	5.400000e-01
GAL3ST4	79690	broad.mit.edu	37	7	99758090	99758090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99758090C>T	ENST00000360039.4	-	4	1314	c.922G>A	c.(922-924)Gat>Aat	p.D308N	C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000423751.1_Silent_p.S206S|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N|GAL3ST4_ENST00000411994.1_Silent_p.S206S	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4			26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				AATGACTCATCGAAGTACTCA	0.557000																								0							SO:0001583	missense			ENST00000360039.4	1	1	hg19	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922195	0.92319	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.26518	1.73;1.73;1.73	4.82	4.82	0.62117	.	0.000000	0.85682	U	0.000000	T	0.51770	0.1694	M	0.78344	2.41	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.74023	0.978;0.982	T	0.55535	-0.8126	10	0.62326	D	0.03	-9.5784	15.4362	0.75149	0.0:1.0:0.0:0.0	.	246;308	B4DWL8;Q96RP7	.;G3ST4_HUMAN	N	308;308;246	ENSP00000400451:D308N;ENSP00000353142:D308N;ENSP00000398304:D246N	ENSP00000353142:D308N	D	-	1	0	GAL3ST4	99596026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.638000	0.83328	2.518000	0.84900	0.511000	0.50034	GAT		TCGA-IB-7651-01A-11D-2154-08	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	1	0	1	131	550	0	149	1	9.999998e-01	8	84	0	149	2		0	0	0	0	0	2	1	1	124	540	0	149	2								-3.077831	1	1	121412	14	46	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAG3	10734	broad.mit.edu	37	7	99786553	99786553	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99786553G>A	ENST00000426455.1	+	7	1036	c.629G>A	c.(628-630)gGc>gAc	p.G210D	STAG3_ENST00000317296.5_Missense_Mutation_p.G210D|STAG3_ENST00000394018.2_Missense_Mutation_p.G152D	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3			66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				CTCTATGATGGCTTCCCTATG	0.542000																								0							SO:0001583	missense			ENST00000426455.1	1	1	hg19	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.748218	0.49257	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296;ENST00000439782	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.31	4.35	0.52113	STAG (1);	0.389572	0.22016	N	0.065798	T	0.17874	0.0429	N	0.02865	-0.47	0.42558	D	0.993133	B;B	0.11235	0.004;0.0	B;B	0.17979	0.02;0.008	T	0.08597	-1.0714	10	0.38643	T	0.18	-14.851	6.3818	0.21540	0.1895:0.0:0.8105:0.0	.	152;210	B4DZ10;Q9UJ98	.;STAG3_HUMAN	D	210;152;210;152	ENSP00000400359:G210D;ENSP00000377586:G152D;ENSP00000319318:G210D;ENSP00000397067:G152D	ENSP00000319318:G210D	G	+	2	0	STAG3	99624489	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.081000	0.71309	2.765000	0.95021	0.555000	0.69702	GGC		TCGA-IB-7651-01A-11D-2154-08	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	0	0	1	127	455	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	126	441	0	93	2								-20.000000	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAG3	10734	broad.mit.edu	37	7	99811415	99811415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99811415G>A	ENST00000426455.1	+	33	4062	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3			66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				AGATTCTACAGAGCTGGATAT	0.493000																								0							SO:0001583	missense			ENST00000426455.1	1	1	hg19	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.576279	0.86645	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.0	5.0	0.66597	.	0.000000	0.39544	N	0.001340	T	0.45316	0.1336	L	0.60455	1.87	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70935	0.971;0.971;0.971	T	0.16719	-1.0393	10	0.44086	T	0.13	-20.6421	13.9825	0.64313	0.0:0.0:1.0:0.0	.	1161;1220;1219	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	K	1219;1161;882;240;1219;178	ENSP00000400359:E1219K;ENSP00000377586:E1161K;ENSP00000319318:E1219K;ENSP00000395039:E178K	ENSP00000319318:E1219K	E	+	1	0	STAG3	99649351	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.980000	0.56895	2.741000	0.93983	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	1	0	0	26	490	0	96	0	9.408591e-02	1	9	0	96	2		0	0	0	0	0	2	1	9.999999e-01	26	483	0	94	2								-3.215742	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.600000	0.400000	1.000000	0.590000	0.632845	0.600000	0	4.900000e-01	7.500000e-01
SPDYE3	441272	broad.mit.edu	37	7	99909548	99909548	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99909548G>A	ENST00000332397.6	+	4	904	c.720G>A	c.(718-720)tcG>tcA	p.S240S	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3			20					GGCGAGTGTCGCTCGTGCTCC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000332397.6	0	1	hg19	CCDS47658.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	1	0	0	54	206	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	9.941100e-01	9	24	0	104	2								-3.415226	1	1	95806	6	27	1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PILRB	29990	broad.mit.edu	37	7	99957138	99957138	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99957138C>T	ENST00000452089.1	+	8	1692	c.633C>T	c.(631-633)ctC>ctT	p.L211L	PILRB_ENST00000609309.1_Silent_p.L211L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Silent_p.L211L|PILRB_ENST00000448382.1_Missense_Mutation_p.P264S|PILRB_ENST00000444073.1_Silent_p.L211L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta			13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				GCCTCCTCCTCCTGTGGTGGA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000452089.1	1	1	hg19	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	1.680	-0.506765	0.04231	2.27E-4	0.0	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	.	.	.	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27262	-1.0079	2	.	.	.	.	.	.	.	.	142	Q9UKJ0-2	.	S	142;264	.	.	P	+	1	0	PILRB	99795074	0.095000	0.21747	0.062000	0.19696	0.007000	0.05969	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCT		TCGA-IB-7651-01A-11D-2154-08	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	0	0	1	58	243	0	42	1	9.815172e-01	12	17	0	42	2		0	0	0	0	0	2	1	1	57	238	0	42	2								-3.099491	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PILRA	29992	broad.mit.edu	37	7	99971341	99971341	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99971341C>A	ENST00000198536.2	+	1	274	c.62C>A	c.(61-63)cCt>cAt	p.P21H	PILRA_ENST00000453419.1_Missense_Mutation_p.P21H|PILRA_ENST00000350573.2_Missense_Mutation_p.P21H|PILRA_ENST00000394000.2_Missense_Mutation_p.P21H	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha			15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				TTTCTGCAGCCTAGTGAGTAC	0.647000																								0							SO:0001583	missense			ENST00000198536.2	1	1	hg19	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222284	0.39300	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.23348	1.93;2.23;2.23;1.91;2.26	3.65	0.63	0.17693	Immunoglobulin-like (1);	1.274000	0.05643	N	0.583869	T	0.27594	0.0678	N	0.14661	0.345	0.09310	N	1	P;D;D;D;P	0.71674	0.553;0.994;0.986;0.998;0.688	B;P;P;P;B	0.61940	0.094;0.669;0.895;0.896;0.094	T	0.28490	-1.0042	9	.	.	.	.	5.8473	0.18673	0.3885:0.4221:0.1894:0.0	.	21;21;21;21;21	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	H	21	ENSP00000415111:P21H;ENSP00000198536:P21H;ENSP00000390026:P21H;ENSP00000377569:P21H;ENSP00000340109:P21H	.	P	+	2	0	PILRA	99809277	0.000000	0.05858	0.037000	0.18230	0.003000	0.03518	-0.635000	0.05471	0.123000	0.18342	0.313000	0.20887	CCT		TCGA-IB-7651-01A-11D-2154-08	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	1	0	1	83	425	0	103	0	1	0	130	0	103	2		0	0	0	0	0	2	1	1	81	418	0	102	2								-3.230397	1	1	0	0		1	1	2	3	2.000345	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS13B	157680	broad.mit.edu	37	8	100147882	100147882	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100147882C>T	ENST00000358544.2	+	11	1595	c.1484C>T	c.(1483-1485)aCa>aTa	p.T495I	VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I|VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I|VPS13B_ENST00000395996.1_Missense_Mutation_p.T495I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		ACATACCTTACAAATTCATTG	0.328000													Colon(161;2205 2542 7338 31318)											0							SO:0001583	missense			ENST00000358544.2	1	1	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231371	0.79688	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.78364	-1.17;-0.46;-0.46;-0.17	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.83229	0.5209	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.996;0.998;0.974	D	0.84951	0.0871	10	0.72032	D	0.01	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	495;495;495;495	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	I	495	ENSP00000347281:T495I;ENSP00000349685:T495I;ENSP00000351346:T495I;ENSP00000379318:T495I	ENSP00000347281:T495I	T	+	2	0	VPS13B	100217058	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.204000	0.77872	2.663000	0.90544	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1	37	162	0	51	1	8.676144e-01	5	13	0	51	2		0	0	0	0	0	2	1	1	36	156	0	51	2								-19.997160	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
VPS13B	157680	broad.mit.edu	37	8	100286495	100286495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100286495G>A	ENST00000358544.2	+	18	2696	c.2585G>A	c.(2584-2586)aGc>aAc	p.S862N	VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N|VPS13B_ENST00000395996.1_Missense_Mutation_p.S862N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		AAGTACTGCAGCACATCATTG	0.433000													Colon(161;2205 2542 7338 31318)											0							SO:0001583	missense			ENST00000358544.2	1	1	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918911	0.73098	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.70986	-0.53;-0.53;-0.24	5.65	5.65	0.86999	.	0.057164	0.64402	D	0.000001	T	0.76737	0.4029	L	0.32530	0.975	0.51012	D	0.999903	D;B;B;D	0.67145	0.996;0.211;0.134;0.996	P;B;B;P	0.61070	0.883;0.13;0.061;0.883	T	0.76929	-0.2777	10	0.54805	T	0.06	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	862;862;862;862	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	N	862	ENSP00000349685:S862N;ENSP00000351346:S862N;ENSP00000379318:S862N	ENSP00000349685:S862N	S	+	2	0	VPS13B	100355671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.826000	0.97356	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1	106	499	0	139	1	8.856723e-01	4	16	0	139	2		0	0	0	0	0	2	1	1	104	493	0	137	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS13B	157680	broad.mit.edu	37	8	100454751	100454751	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100454751G>A	ENST00000358544.2	+	23	3444	c.3333G>A	c.(3331-3333)ccG>ccA	p.P1111P	VPS13B_ENST00000357162.2_Silent_p.P1111P|VPS13B_ENST00000395996.1_Silent_p.P1111P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		CCAGCATGCCGGGAACACTTG	0.443000													Colon(161;2205 2542 7338 31318)											0							SO:0001819	synonymous_variant			ENST00000358544.2	0	1	hg19	CCDS6280.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	0	0	8	410	0	76	0	1.106653e-01	0	26	0	76	2		0	0	0	0	0	2	1	9.890989e-01	8	406	0	76	2								-2.347163	0	1	121406	7	41	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.230000	0.100000	0.410000	0.220000	0.245980	0.230000	0	1.600000e-01	3.200000e-01
VPS13B	157680	broad.mit.edu	37	8	100523350	100523350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100523350G>A	ENST00000358544.2	+	29	4429	c.4318G>A	c.(4318-4320)Gat>Aat	p.D1440N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	p.D1440H(1)|p.D1415H(1)		193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		AAAACTTCTAGATGGCACTCA	0.348000													Colon(161;2205 2542 7338 31318)											2	Substitution - Missense(2)						SO:0001583	missense			ENST00000358544.2	1	1	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548074	0.65311	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.40225	1.04;1.04	5.42	5.42	0.78866	.	0.127271	0.53938	D	0.000046	T	0.51398	0.1672	L	0.40543	1.245	0.80722	D	1	D;P;P	0.56746	0.977;0.873;0.877	P;P;P	0.54499	0.754;0.599;0.494	T	0.51204	-0.8735	10	0.62326	D	0.03	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1439;1415;1440	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	N	1415;1440	ENSP00000349685:D1415N;ENSP00000351346:D1440N	ENSP00000349685:D1415N	D	+	1	0	VPS13B	100592526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.537000	0.98070	2.705000	0.92388	0.484000	0.47621	GAT		TCGA-IB-7651-01A-11D-2154-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1	68	342	0	81	1	9.557419e-01	7	21	0	81	2		0	0	0	0	0	2	1	1	68	333	0	80	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS13B	157680	broad.mit.edu	37	8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		AGCATACGGCGGCATCAAGAA	0.353000													Colon(161;2205 2542 7338 31318)											0							SO:0001583	missense			ENST00000358544.2	1	1	hg19	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684020|4.684020	0.88639|0.88639	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|T;T	.|0.69561	.|-0.41;-0.4	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.992	T|T	0.74682|0.74682	-0.3583|-0.3583	5|10	.|0.24483	.|T	.|0.36	.|.	19.5096|19.5096	0.95135|0.95135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1653;1678	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	S|Q	41|1653;1678	.|ENSP00000349685:R1653Q;ENSP00000351346:R1678Q	.|ENSP00000349685:R1653Q	G|R	+|+	1|2	0|0	VPS13B|VPS13B	100657070|100657070	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.971000|0.971000	0.66376|0.66376	9.015000|9.015000	0.93640|0.93640	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GGC|CGG		TCGA-IB-7651-01A-11D-2154-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1	46	210	0	45	1	9.907341e-01	7	29	0	45	2		0	0	0	0	0	2	1	1	46	208	0	44	2								-2.800739	1	1	121412	3	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS13B	157680	broad.mit.edu	37	8	100789061	100789061	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100789061C>A	ENST00000358544.2	+	41	7492	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		TCCAACAGCCCTGGCTGCCTG	0.453000													Colon(161;2205 2542 7338 31318)											0							SO:0001583	missense			ENST00000358544.2	1	1	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653464	0.67472	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.85556	-1.99;-2.0	5.52	4.64	0.57946	.	0.000000	0.64402	D	0.000002	D	0.89691	0.6788	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.89445	0.3726	10	0.72032	D	0.01	.	8.0438	0.30536	0.0:0.778:0.0:0.222	.	2436;2461	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	M	2436;2461	ENSP00000349685:L2436M;ENSP00000351346:L2461M	ENSP00000349685:L2436M	L	+	1	2	VPS13B	100858237	0.679000	0.27596	1.000000	0.80357	0.998000	0.95712	0.751000	0.26348	2.583000	0.87209	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	1	0	1	66	614	0	114	1	9.006666e-01	5	34	0	114	2		0	0	0	0	0	2	1	1	65	606	0	113	2								-3.017764	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.880000	1.000000	1.000000	0.990484	0.990000	1	9.900000e-01	1
MSRA	4482	broad.mit.edu	37	8	10102688	10102688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10102688G>A	ENST00000317173.4	+	3	535	c.286G>A	c.(286-288)Gca>Aca	p.A96T	MSRA_ENST00000521209.2_Missense_Mutation_p.A30T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T|MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000528246.1_Missense_Mutation_p.A30T	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A			8		Myeloproliferative disorder(644;0.178)		L-Methionine(DB00134)	AGTTGGTTTTGCAGGAGGCTA	0.373000													NSCLC(88;1378 1469 30580 49103 52286)											0							SO:0001583	missense			ENST00000317173.4	1	1	hg19	CCDS5975.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520417	0.85495	.	.	ENSG00000175806	ENST00000317173;ENST00000518255;ENST00000521209;ENST00000522907;ENST00000528246;ENST00000382490	.	.	.	5.66	5.66	0.87406	.	0.130128	0.53938	D	0.000051	T	0.66925	0.2839	L	0.46947	1.48	0.48395	D	0.999646	D;P;D	0.61697	0.99;0.955;0.977	D;P;P	0.65323	0.934;0.791;0.867	T	0.64166	-0.6471	8	.	.	.	-22.8028	13.3246	0.60452	0.0:0.0:0.842:0.158	.	53;53;96	B7Z694;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	T	96;96;30;30;30;53	.	.	A	+	1	0	MSRA	10140098	1.000000	0.71417	0.846000	0.33378	0.998000	0.95712	4.700000	0.61803	2.675000	0.91044	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	1	0	1	71	411	0	80	1	9.998075e-01	20	54	0	80	2		0	0	0	0	0	2	1	1	72	404	0	80	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO43	286151	broad.mit.edu	37	8	101146101	101146101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101146101C>T	ENST00000428847.2	-	5	2372	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43			31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		CTTGGCTTTGCTGCTCCTCTA	0.443000																								0							SO:0001583	missense			ENST00000428847.2	1	1	hg19	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442314	0.43326	.	.	ENSG00000156509	ENST00000428847	T	0.34072	1.38	5.15	3.28	0.37604	.	0.347019	0.29362	N	0.012376	T	0.27559	0.0677	L	0.54323	1.7	0.37515	D	0.917302	B	0.23540	0.087	B	0.17433	0.018	T	0.11397	-1.0589	10	0.21014	T	0.42	-5.4613	5.6701	0.17717	0.1365:0.6218:0.0:0.2417	.	686	Q4G163	FBX43_HUMAN	T	686	ENSP00000403293:A686T	ENSP00000403293:A686T	A	-	1	0	FBXO43	101215277	0.961000	0.32948	1.000000	0.80357	0.987000	0.75469	0.589000	0.23939	0.616000	0.30141	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	0	0	0	18	431	0	75	0	1.864097e-03	0	2	0	75	2		0	0	0	0	0	2	1	9.999806e-01	18	425	0	75	2								-3.149146	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.460000	0.280000	0.700000	0.460000	0.484016	0.460000	0	3.700000e-01	5.900000e-01
SPAG1	6674	broad.mit.edu	37	8	101190150	101190150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101190150G>A	ENST00000388798.2	+	4	598	c.407G>A	c.(406-408)aGc>aAc	p.S136N	SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1			30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		GGTTCAAACAGCTGTCTTCAT	0.388000																								0							SO:0001583	missense			ENST00000388798.2	1	1	hg19	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741393	0.15642	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.47	2.67	0.31697	.	0.713412	0.13896	N	0.355225	T	0.16896	0.0406	M	0.75264	2.295	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.11329	0.005;0.006	T	0.18808	-1.0325	10	0.62326	D	0.03	-3.0269	6.9275	0.24424	0.2093:0.0:0.7907:0.0	.	136;136	Q07617;G3XAM3	SPAG1_HUMAN;.	N	136	ENSP00000427716:S136N;ENSP00000251809:S136N;ENSP00000428070:S136N;ENSP00000373450:S136N	ENSP00000251809:S136N	S	+	2	0	SPAG1	101259326	0.005000	0.15991	0.018000	0.16275	0.787000	0.44495	1.243000	0.32767	0.621000	0.30232	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	1	0	0	30	328	0	72	0	4.039824e-01	1	15	0	72	2		0	0	0	0	0	2	1	1	28	321	0	72	2								-9.689458	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.970000	0.670000	1.000000	1.000000	0.925501	0.970000	1	8.100000e-01	1
SPAG1	6674	broad.mit.edu	37	8	101196260	101196260	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101196260T>C	ENST00000388798.2	+	6	756	c.565T>C	c.(565-567)Tct>Cct	p.S189P	SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P|Y_RNA_ENST00000362797.1_RNA|SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P|SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1			30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		GTCACACTTGTCTAAAATTGA	0.264000																								0							SO:0001583	missense			ENST00000388798.2	1	1	hg19	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.547190	0.27652	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.66	4.53	0.55603	.	2.230900	0.01467	N	0.016126	T	0.19005	0.0456	L	0.53249	1.67	0.33878	D	0.635808	B;B	0.15930	0.007;0.015	B;B	0.16289	0.007;0.015	T	0.46978	-0.9152	10	0.26408	T	0.33	-21.5674	3.8289	0.08865	0.0:0.2901:0.0:0.7099	.	189;189	Q07617;G3XAM3	SPAG1_HUMAN;.	P	189	ENSP00000427716:S189P;ENSP00000251809:S189P;ENSP00000428070:S189P;ENSP00000373450:S189P	ENSP00000251809:S189P	S	+	1	0	SPAG1	101265436	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	2.713000	0.47194	2.153000	0.67306	0.459000	0.35465	TCT		TCGA-IB-7651-01A-11D-2154-08	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	1	0	1	39	149	0	57	1	9.543066e-01	5	17	0	57	2		0	0	0	0	0	2	1	1	37	145	0	57	2								-19.999980	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF19A	25897	broad.mit.edu	37	8	101271380	101271380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101271380C>T	ENST00000519449.1	-	11	2237	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase			30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		CTTCGGGTGGCACTGCCATCA	0.478000											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000519449.1	1	1	hg19	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.195037	0.78902	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84146	-1.81;-1.81	5.74	2.54	0.30619	.	0.433072	0.26692	N	0.022992	T	0.78155	0.4239	L	0.36672	1.1	0.09310	N	0.999993	B	0.13594	0.008	B	0.16722	0.016	T	0.69206	-0.5206	10	0.52906	T	0.07	.	12.1983	0.54311	0.0:0.7788:0.0:0.2212	.	641	Q9NV58	RN19A_HUMAN	T	641	ENSP00000428968:A641T;ENSP00000342667:A641T	ENSP00000342667:A641T	A	-	1	0	RNF19A	101340556	1.000000	0.71417	0.084000	0.20598	0.800000	0.45204	2.623000	0.46435	0.778000	0.33520	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	1	0	1	124	511	0	123	1	1	21	90	0	123	2		0	0	0	0	0	2	1	1	119	502	0	122	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD46	157567	broad.mit.edu	37	8	101541971	101541971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101541971G>A	ENST00000520552.1	-	3	252	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000520311.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46			7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		CTTTCCAAAAGCCGCTTGGAA	0.458000																								0							SO:0001583	missense			ENST00000520552.1	1	1	hg19	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222509	0.95139	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-0.29;-0.29	5.6	5.6	0.85130	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.75447	2.3	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.81914	0.934;0.995	D	0.90341	0.4359	10	0.72032	D	0.01	-18.5285	19.6107	0.95606	0.0:0.0:1.0:0.0	.	31;31	Q86W74-2;Q86W74	.;ANR46_HUMAN	F	31	ENSP00000429015:L31F;ENSP00000335287:L31F;ENSP00000430056:L31F;ENSP00000428388:L31F;ENSP00000430827:L31F;ENSP00000351881:L31F;ENSP00000430357:L31F;ENSP00000430800:L31F;ENSP00000429647:L31F	ENSP00000335287:L31F	L	-	1	0	ANKRD46	101611147	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.425000	0.80255	2.648000	0.89879	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	1	0	1	54	300	0	58	1	9.884583e-01	14	27	0	58	2		0	0	0	0	0	2	1	1	53	295	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SNX31	169166	broad.mit.edu	37	8	101608911	101608911	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101608911C>T	ENST00000311812.2	-	10	1084	c.934G>A	c.(934-936)Gtt>Att	p.V312I	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.V213I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31			26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		ATCTGGAAAACGATGTCCTGG	0.502000																								0							SO:0001583	missense			ENST00000311812.2	1	1	hg19	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737498	0.03111	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22945	2.27;1.93	4.25	-2.68	0.06041	.	1.281140	0.05355	N	0.532635	T	0.08537	0.0212	N	0.00823	-1.155	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.32903	-0.9889	10	0.31617	T	0.26	0.8174	9.798	0.40746	0.0:0.4637:0.0:0.5363	.	213;312	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	312;213	ENSP00000312368:V312I;ENSP00000405024:V213I	ENSP00000312368:V312I	V	-	1	0	SNX31	101678087	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	0.098000	0.15189	-0.575000	0.05982	-1.155000	0.01812	GTT		TCGA-IB-7651-01A-11D-2154-08	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	1	0	1	51	438	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	51	431	0	95	2								-17.166820	1	1	121412	2	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.910000	1.000000	1.000000	0.995068	0.990000	1	9.900000e-01	1
SNX31	169166	broad.mit.edu	37	8	101624274	101624274	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101624274G>T	ENST00000311812.2	-	7	715	c.565C>A	c.(565-567)Ctt>Att	p.L189I	SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31			26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		GAACTTCCAAGACTAACATAA	0.438000																								0							SO:0001583	missense			ENST00000311812.2	1	1	hg19	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310250	0.40895	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	T;T;T	0.49139	2.17;1.81;0.79	5.92	5.92	0.95590	.	0.114287	0.37955	N	0.001861	T	0.40473	0.1118	L	0.49455	1.56	0.33742	D	0.619597	P;P	0.48503	0.778;0.911	B;B	0.37989	0.262;0.232	T	0.53215	-0.8470	10	0.20046	T	0.44	-13.6554	15.8344	0.78787	0.0:0.0:1.0:0.0	.	90;189	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	189;90;123	ENSP00000312368:L189I;ENSP00000405024:L90I;ENSP00000428210:L123I	ENSP00000312368:L189I	L	-	1	0	SNX31	101693450	1.000000	0.71417	0.136000	0.22124	0.435000	0.31806	4.973000	0.63763	2.822000	0.97130	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	1	0	1	42	235	0	58	0	0	0	1	0	58	2		0	0	0	0	0	2	1	1	40	232	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
GRHL2	79977	broad.mit.edu	37	8	102585977	102585977	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102585977A>C	ENST00000251808.3	+	6	1154	c.816A>C	c.(814-816)aaA>aaC	p.K272N	GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)			28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		ACCTCAACAAAGGACAGTTCT	0.502000																								0							SO:0001583	missense			ENST00000251808.3	1	1	hg19	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778126	0.70107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.26957	1.7;1.7	5.8	0.79	0.18613	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.875;0.999	T	0.56306	-0.8001	10	0.87932	D	0	-27.0773	11.1202	0.48284	0.7395:0.0:0.2605:0.0	.	272;272	B4DL28;Q6ISB3	.;GRHL2_HUMAN	N	272;256;272	ENSP00000251808:K272N;ENSP00000379260:K256N	ENSP00000251808:K272N	K	+	3	2	GRHL2	102655153	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	1.433000	0.34947	-0.346000	0.08312	-1.162000	0.01777	AAA		TCGA-IB-7651-01A-11D-2154-08	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	0	0	1	47	221	0	70	1	6.510853e-01	4	8	0	70	2		0	0	0	0	0	2	1	1	47	214	0	66	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRHL2	79977	broad.mit.edu	37	8	102589658	102589658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102589658G>A	ENST00000251808.3	+	7	1252	c.914G>A	c.(913-915)aGt>aAt	p.S305N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)			28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		GTGGTCTTCAGTGAAGACAAA	0.488000																								0							SO:0001583	missense			ENST00000251808.3	1	1	hg19	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185364	0.94885	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.17370	2.28;2.28	5.35	5.35	0.76521	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.40543	1.245	0.80722	D	1	P	0.35139	0.486	P	0.45538	0.484	T	0.01401	-1.1364	10	0.45353	T	0.12	-17.3025	19.4438	0.94838	0.0:0.0:1.0:0.0	.	305	Q6ISB3	GRHL2_HUMAN	N	305;289;305	ENSP00000251808:S305N;ENSP00000379260:S289N	ENSP00000251808:S305N	S	+	2	0	GRHL2	102658834	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.954000	0.87848	2.655000	0.90218	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	1	0	1	32	144	0	45	1	7.845223e-01	2	13	0	45	2		0	0	0	0	0	2	1	1	32	143	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
GRHL2	79977	broad.mit.edu	37	8	102611284	102611284	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102611284G>A	ENST00000251808.3	+	8	1341		c.e8-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)			28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		TAATGTTACAGCCGATTACAA	0.368000																								0							SO:0001630	splice_region_variant			ENST00000251808.3	1	1	hg19	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905809	0.92107	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL2	102680460	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.725000	0.98778	2.861000	0.98227	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	1	0	0	14	158	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	9.997863e-01	14	157	0	36	2								-19.377210	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.940000	0.550000	1.000000	1.000000	0.889842	0.940000	1	7.300000e-01	1
NCALD	83988	broad.mit.edu	37	8	102731833	102731833	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102731833G>A	ENST00000311028.3	-	5	403	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000522951.1_Missense_Mutation_p.R9C|NCALD_ENST00000395923.1_Missense_Mutation_p.R9C|NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000220931.6_Missense_Mutation_p.R9C	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta			8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		ACCTCCGGGCGCAGCTTGCTG	0.478000																								0							SO:0001583	missense			ENST00000311028.3	1	1	hg19	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135044	0.56828	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166;ENST00000522252;ENST00000517822;ENST00000524209;ENST00000517531;ENST00000521964;ENST00000519098;ENST00000523923;ENST00000520346;ENST00000518661;ENST00000522206;ENST00000524137;ENST00000522078	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.62266	1.93	0.80722	D	1	D	0.61080	0.989	B	0.39738	0.308	T	0.16958	-1.0385	10	0.87932	D	0	.	19.0263	0.92934	0.0:0.0:1.0:0.0	.	9	P61601	NCALD_HUMAN	C	9	ENSP00000379256:R9C;ENSP00000310587:R9C;ENSP00000220931:R9C;ENSP00000428105:R9C;ENSP00000430476:R9C;ENSP00000428781:R9C;ENSP00000429466:R9C;ENSP00000429255:R9C;ENSP00000430731:R9C;ENSP00000430925:R9C;ENSP00000429522:R9C;ENSP00000428598:R9C;ENSP00000428312:R9C;ENSP00000429493:R9C;ENSP00000429245:R9C;ENSP00000430064:R9C;ENSP00000430534:R9C;ENSP00000428193:R9C;ENSP00000430365:R9C;ENSP00000428093:R9C;ENSP00000429296:R9C	ENSP00000220931:R9C	R	-	1	0	NCALD	102801009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.474000	0.83562	0.557000	0.71058	CGC		TCGA-IB-7651-01A-11D-2154-08	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2	1	0	1	69	344	0	86	0	9.762909e-01	1	31	0	86	2		0	0	0	0	0	2	1	1	69	340	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RRM2B	50484	broad.mit.edu	37	8	103231160	103231160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103231160G>A	ENST00000251810.3	-	6	809	c.566C>T	c.(565-567)gCc>gTc	p.A189V	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V|RRM2B_ENST00000519317.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)			9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)	Cladribine(DB00242)	AGCAGCAAAGGCCACCACTCT	0.353000								Modulation of nucleotide pools																0							SO:0001583	missense			ENST00000251810.3	1	1	hg19	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098649	0.94197	.	.	ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000395912	D;D	0.97791	-4.54;-4.54	5.37	5.37	0.77165	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.099527	0.64402	D	0.000002	D	0.99260	0.9742	H	0.98256	4.185	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.65443	0.776;0.935	D	0.98766	1.0726	10	0.87932	D	0	.	19.1474	0.93473	0.0:0.0:1.0:0.0	.	137;189	Q7LG56-2;Q7LG56	.;RIR2B_HUMAN	V	189;135;137	ENSP00000251810:A189V;ENSP00000379248:A137V	ENSP00000251810:A189V	A	-	2	0	RRM2B	103300336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.511000	0.84671	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3	0	0	1	140	670	1	143	1	9.999404e-01	22	82	1	143	5		0	0	0	0	0	2	1	1	138	659	1	142	19								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBR5	51366	broad.mit.edu	37	8	103266610	103266610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103266610C>T	ENST00000520539.1	-	59	8926	c.8320G>A	c.(8320-8322)Gtc>Atc	p.V2774I	KB-431C1.4_ENST00000520820.1_RNA|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I|KB-431C1.4_ENST00000499653.1_RNA|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I|UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5			124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)		TAGAGTGGGACGTAAAGTCGA	0.393000													Ovarian(131;96 1741 5634 7352 27489)											0							SO:0001583	missense			ENST00000520539.1	1	1	hg19	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	6.479	0.456561	0.12283	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.76	5.76	0.90799	HECT (4);	0.000000	0.64402	D	0.000001	T	0.25644	0.0624	N	0.01771	-0.73	0.80722	D	1	B;B	0.31790	0.34;0.34	B;B	0.26517	0.045;0.07	T	0.35649	-0.9780	10	0.06099	T	0.92	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	2767;2774	E7EMW7;O95071	.;UBR5_HUMAN	I	2774;2773;502;2767	ENSP00000429084:V2774I;ENSP00000220959:V2773I;ENSP00000428693:V502I;ENSP00000427819:V2767I	ENSP00000220959:V2773I	V	-	1	0	UBR5	103335786	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.734000	0.84928	2.706000	0.92434	0.563000	0.77884	GTC		TCGA-IB-7651-01A-11D-2154-08	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	1	49	176	0	39	1	1	36	132	0	39	2		0	0	0	0	0	2	1	1	48	172	0	39	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBR5	51366	broad.mit.edu	37	8	103274267	103274267	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103274267G>T	ENST00000520539.1	-	55	8324	c.7718C>A	c.(7717-7719)cCt>cAt	p.P2573H	UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H|UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5			124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)		ATACATTACAGGATCAAAAAA	0.353000													Ovarian(131;96 1741 5634 7352 27489)											0							SO:0001583	missense			ENST00000520539.1	1	1	hg19	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301251	0.81136	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.4	5.4	0.78164	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.87269	2.87	0.52501	D	0.999951	D;D	0.65815	0.995;0.995	D;D	0.79784	0.993;0.993	T	0.81309	-0.0991	10	0.59425	D	0.04	.	14.1163	0.65156	0.0:0.0:0.8496:0.1504	.	2566;2573	E7EMW7;O95071	.;UBR5_HUMAN	H	2573;2572;301;2566	ENSP00000429084:P2573H;ENSP00000220959:P2572H;ENSP00000428693:P301H;ENSP00000427819:P2566H	ENSP00000220959:P2572H	P	-	2	0	UBR5	103343443	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.496000	0.81526	2.553000	0.86117	0.580000	0.79431	CCT		TCGA-IB-7651-01A-11D-2154-08	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	1	65	271	0	69	1	1	34	136	0	69	2		0	0	0	0	0	2	1	1	64	269	0	69	2								-2.843758	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBR5	51366	broad.mit.edu	37	8	103307906	103307906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103307906C>T	ENST00000520539.1	-	29	4376	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H	UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H|UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5			124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)		AGTGAGCAGGCGATAAAGTAG	0.418000													Ovarian(131;96 1741 5634 7352 27489)											0							SO:0001583	missense			ENST00000520539.1	1	1	hg19	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883557	0.91740	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.79;0.79;0.79	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.35854	1.095	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.60383	-0.7274	10	0.52906	T	0.07	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1251;1257	E7EMW7;O95071	.;UBR5_HUMAN	H	1257;1257;1251	ENSP00000429084:R1257H;ENSP00000220959:R1257H;ENSP00000427819:R1251H	ENSP00000220959:R1257H	R	-	2	0	UBR5	103377082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.506000	0.81665	2.685000	0.91497	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	0	11	214	0	34	0	9.118878e-01	1	84	0	34	2		0	0	0	0	0	2	1	9.984170e-01	11	213	0	33	2								-4.524602	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.570000	0.300000	0.940000	0.560000	0.598716	0.570000	0	4.200000e-01	7.600000e-01
UBR5	51366	broad.mit.edu	37	8	103338880	103338880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103338880G>A	ENST00000520539.1	-	13	2099	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	UBR5_ENST00000521922.1_Missense_Mutation_p.P492L|UBR5_ENST00000220959.4_Missense_Mutation_p.P498L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5			124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)		TTGACTAAAAGGAACTACACC	0.328000													Ovarian(131;96 1741 5634 7352 27489)											0							SO:0001583	missense			ENST00000520539.1	1	1	hg19	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738842	0.89573	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.75477	-0.94;-0.94;-0.92	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.76727	2.345	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.64595	0.927;0.927	D	0.87270	0.2285	10	0.87932	D	0	.	19.0545	0.93058	0.0:0.0:1.0:0.0	.	492;498	E7EMW7;O95071	.;UBR5_HUMAN	L	498;498;492	ENSP00000429084:P498L;ENSP00000220959:P498L;ENSP00000427819:P492L	ENSP00000220959:P498L	P	-	2	0	UBR5	103408056	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.373000	0.97168	2.566000	0.86566	0.460000	0.39030	CCT		TCGA-IB-7651-01A-11D-2154-08	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	1	28	178	0	38	1	9.917763e-01	11	40	0	38	2		0	0	0	0	0	2	1	1	28	177	0	38	2								-3.323170	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999326	0.990000	1	9.900000e-01	1
UBR5	51366	broad.mit.edu	37	8	103357683	103357683	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103357683C>A	ENST00000520539.1	-	8	1433	c.827G>T	c.(826-828)aGc>aTc	p.S276I	UBR5_ENST00000521922.1_Missense_Mutation_p.S276I|UBR5_ENST00000220959.4_Missense_Mutation_p.S276I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5			124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)		ACCAAAATAGCTAATGTCTTC	0.393000													Ovarian(131;96 1741 5634 7352 27489)											0							SO:0001583	missense			ENST00000520539.1	1	1	hg19	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190150	0.94923	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45668	0.9;0.9;0.89	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	N	0.22421	0.69	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.32455	-0.9906	10	0.20046	T	0.44	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	276;276	E7EMW7;O95071	.;UBR5_HUMAN	I	276	ENSP00000429084:S276I;ENSP00000220959:S276I;ENSP00000427819:S276I	ENSP00000220959:S276I	S	-	2	0	UBR5	103426859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.802000	0.96397	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	1	0	0	26	121	0	26	1	9.998951e-01	6	66	0	26	2		0	0	0	0	0	2	1	1	26	119	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
ODF1	4956	broad.mit.edu	37	8	103564019	103564019	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564019C>A	ENST00000285402.3	+	1	220	c.64C>A	c.(64-66)Cta>Ata	p.L22I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1			20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		GGACAGAGAACTAAGGCAACT	0.488000																								0							SO:0001583	missense			ENST00000285402.3	1	1	hg19	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332159	0.60853	.	.	ENSG00000155087	ENST00000285402	T	0.35973	1.28	5.7	2.92	0.33932	.	0.000000	0.41938	D	0.000790	T	0.33904	0.0879	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	D	0.67548	0.952	T	0.11518	-1.0584	10	0.41790	T	0.15	-13.2892	9.486	0.38931	0.0:0.839:0.0:0.161	.	22	Q14990	ODFP1_HUMAN	I	22	ENSP00000285402:L22I	ENSP00000285402:L22I	L	+	1	2	ODF1	103633195	0.969000	0.33509	0.952000	0.39060	0.991000	0.79684	0.541000	0.23207	0.328000	0.23435	0.563000	0.77884	CTA		TCGA-IB-7651-01A-11D-2154-08	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1	1	0	1	109	474	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1	108	462	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ODF1	4956	broad.mit.edu	37	8	103564276	103564276	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564276G>T	ENST00000285402.3	+	1	476		c.e1+1			NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1			20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		AGCTTGCCAAGtaaaataact	0.343000																								0							SO:0001630	splice_region_variant			ENST00000285402.3	1	1	hg19	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034235	0.54896	.	.	ENSG00000155087	ENST00000285402	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0344	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF1	103633452	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	4.746000	0.62133	2.601000	0.87937	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1	1	0	0	58	236	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	56	233	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLF10	7071	broad.mit.edu	37	8	103663511	103663511	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103663511A>C	ENST00000285407.6	-	3	1349	c.1049T>G	c.(1048-1050)tTt>tGt	p.F350C	KLF10_ENST00000395884.3_Missense_Mutation_p.F339C	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10			18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		TGAAGGGGAAAACCCAGGAGC	0.517000													Esophageal Squamous(16;495 519 2144 16528 44005)											0							SO:0001583	missense			ENST00000285407.6	1	1	hg19	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690749	0.48097	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14640	2.49;2.56	5.5	5.5	0.81552	.	0.151335	0.47852	D	0.000211	T	0.23370	0.0565	M	0.64997	1.995	0.09310	N	1	B;D	0.61080	0.066;0.989	B;P	0.49361	0.041;0.608	T	0.13124	-1.0521	10	0.30854	T	0.27	.	15.9091	0.79456	1.0:0.0:0.0:0.0	.	350;339	Q13118;O75411	KLF10_HUMAN;.	C	350;339	ENSP00000285407:F350C;ENSP00000379222:F339C	ENSP00000285407:F350C	F	-	2	0	KLF10	103732687	0.947000	0.32204	0.187000	0.23214	0.987000	0.75469	3.309000	0.51903	2.209000	0.71365	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1	1	0	1	96	399	0	102	1	1	26	157	0	102	2		0	0	0	0	0	2	1	1	93	391	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLF10	7071	broad.mit.edu	37	8	103667818	103667818	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103667818G>A	ENST00000285407.6	-	1	312	c.12C>T	c.(10-12)ttC>ttT	p.F4F	KLF10_ENST00000395884.3_5'Flank	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10			18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		GAGAGGCACCGAAGTTGAGCA	0.657000													Esophageal Squamous(16;495 519 2144 16528 44005)											0							SO:0001819	synonymous_variant			ENST00000285407.6	1	1	hg19	CCDS6294.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1	1	0	0	29	168	0	40	1	9.989663e-01	9	56	0	40	2		0	0	0	0	0	2	1	1	29	163	0	40	2								-15.434520	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999796	0.990000	1	9.900000e-01	1
PRSS55	203074	broad.mit.edu	37	8	10383150	10383150	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10383150G>A	ENST00000328655.3	+	1	95	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55			31					AACTCAGCTCGGTCCACGGAC	0.677000																								0							SO:0001583	missense			ENST00000328655.3	1	1	hg19	CCDS5976.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.148	0.025788	0.08054	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.87887	-2.31;-2.29	3.39	0.607	0.17564	.	.	.	.	.	T	0.71904	0.3395	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.23275	0.045	T	0.60939	-0.7163	9	0.51188	T	0.08	.	6.7064	0.23252	0.1156:0.1717:0.7127:0.0	.	19	Q6UWB4	PRS55_HUMAN	S	19	ENSP00000333003:G19S;ENSP00000430459:G19S	ENSP00000333003:G19S	G	+	1	0	PRSS55	10420560	0.566000	0.26618	0.024000	0.17045	0.000000	0.00434	0.525000	0.22956	0.103000	0.17682	-2.793000	0.00115	GGT		TCGA-IB-7651-01A-11D-2154-08	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	1	0	1	52	206	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	52	205	0	58	2								-3.664974	1	1	121412	1	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AZIN1	51582	broad.mit.edu	37	8	103845355	103845355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103845355G>A	ENST00000337198.5	-	9	1996	c.833C>T	c.(832-834)tCt>tTt	p.S278F	AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1			9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		AAATGCAGAAGACACATAGTA	0.338000																								0							SO:0001583	missense			ENST00000337198.5	1	1	hg19	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534590	0.45073	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.46063	0.88;0.88	6.06	6.06	0.98353	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.050710	0.85682	D	0.000000	T	0.50939	0.1645	L	0.55743	1.74	0.58432	D	0.999999	B	0.29341	0.242	B	0.39068	0.289	T	0.45527	-0.9255	10	0.56958	D	0.05	-14.8825	20.6208	0.99490	0.0:0.0:1.0:0.0	.	278	O14977	AZIN1_HUMAN	F	278	ENSP00000337180:S278F;ENSP00000321507:S278F	ENSP00000337180:S278F	S	-	2	0	AZIN1	103914531	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	7.647000	0.83462	2.882000	0.98803	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1	1	0	1	59	288	0	58	1	1	62	284	0	58	2		0	0	0	0	0	2	1	1	57	285	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAALC	79870	broad.mit.edu	37	8	104225273	104225273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104225273G>A	ENST00000297574.6	+	3	531	c.392G>A	c.(391-393)gGc>gAc	p.G131D	RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000309982.5_Missense_Mutation_p.G96D|RP11-318M2.2_ENST00000523614.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic			7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)		CTCAGCTCAGGCCCTCTGACC	0.567000																								0							SO:0001583	missense			ENST00000297574.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.0	4.225051	0.79576	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.56275	0.59;0.47	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.976;0.981	T	0.75777	-0.3198	9	0.87932	D	0	-15.2011	14.6078	0.68493	0.0:0.0:1.0:0.0	.	131;96	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	D	96;131	ENSP00000312457:G96D;ENSP00000297574:G131D	ENSP00000297574:G131D	G	+	2	0	BAALC	104294449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.291000	0.51764	2.578000	0.87016	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1	1	0	1	113	469	0	194	0	9.931586e-01	0	34	0	194	2		0	0	0	0	0	2	1	1	112	461	0	192	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD6	8323	broad.mit.edu	37	8	104343602	104343602	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343602C>A	ENST00000358755.4	+	7	2303	c.1986C>A	c.(1984-1986)ggC>ggA	p.G662G	FZD6_ENST00000522566.1_Silent_p.G662G|FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000540287.1_Silent_p.G357G	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6			24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		CTGACACTGGCCTGGCACAGA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000358755.4	1	1	hg19	CCDS6298.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	0	0	0	21	647	0	143	1	9.057292e-01	5	122	0	143	2		0	0	0	0	0	2	1	9.999963e-01	20	624	0	142	2								-3.020904	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.360000	0.230000	0.530000	0.360000	0.378711	0.360000	0	2.900000e-01	4.500000e-01
CTHRC1	115908	broad.mit.edu	37	8	104387965	104387965	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104387965G>A	ENST00000330295.5	+	2	292		c.e2-1		CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Splice_Site|CTHRC1_ENST00000415886.2_Splice_Site	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1			12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		TCTCATTATAGTATAATGGAA	0.478000																								0							SO:0001630	splice_region_variant			ENST00000330295.5	1	1	hg19	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843455	0.71488	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTHRC1	104457141	1.000000	0.71417	0.993000	0.49108	0.795000	0.44927	8.908000	0.92640	2.500000	0.84329	0.591000	0.81541	.		TCGA-IB-7651-01A-11D-2154-08	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	1	0	1	108	550	0	98	0	7.323427e-02	0	3	0	98	2		0	0	0	0	0	2	1	1	106	541	0	98	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF13	25879	broad.mit.edu	37	8	104432575	104432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104432575C>T	ENST00000297579.5	+	2	887	c.610C>T	c.(610-612)Cga>Tga	p.R204*	DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13			25					CAAACTGGAACGAGTATTTGC	0.428000																								0							SO:0001587	stop_gained			ENST00000297579.5	0	1	hg19	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798807	0.90538	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	.	.	.	5.19	5.19	0.71726	.	0.111571	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3513	18.7083	0.91646	0.0:1.0:0.0:0.0	.	.	.	.	X	204;48;48;52;48	.	ENSP00000297579:R204X	R	+	1	2	DCAF13	104501751	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.375000	0.59549	2.415000	0.81967	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	1	0	0	13	183	0	69	0	9.969685e-01	1	140	0	69	2		0	0	0	0	0	2	1	9.995605e-01	13	181	0	68	2								-16.796510	1	1	121412	2	41	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.770000	0.440000	1.000000	1.000000	0.778748	0.770000	0	5.900000e-01	9.900000e-01
DCAF13	25879	broad.mit.edu	37	8	104453770	104453770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104453770C>T	ENST00000297579.5	+	10	1907	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13			25					ACGTATAGCTCGTCATCGACA	0.383000																								0							SO:0001583	missense			ENST00000297579.5	1	1	hg19	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445274	0.63178	.	.	ENSG00000164934	ENST00000297579	T	0.76316	-1.01	5.42	5.42	0.78866	.	0.068684	0.64402	D	0.000017	D	0.90283	0.6961	M	0.90977	3.165	0.80722	D	1	.	.	.	.	.	.	D	0.92323	0.5867	8	0.87932	D	0	-16.4943	17.4002	0.87458	0.0:1.0:0.0:0.0	.	.	.	.	C	544	ENSP00000297579:R544C	ENSP00000297579:R544C	R	+	1	0	DCAF13	104522946	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.433000	0.44793	2.521000	0.84997	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	1	0	1	109	454	0	92	1	1	31	121	0	92	2		0	0	0	0	0	2	1	1	104	444	0	91	2								-3.341755	1	1	121412	10	42	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RP1L1	94137	broad.mit.edu	37	8	10464701	10464701	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10464701C>A	ENST00000382483.3	-	4	7130	c.6907G>T	c.(6907-6909)Gca>Tca	p.A2303S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1			148					CAAGAGGATGCTCTGGAGGAG	0.607000																								0							SO:0001583	missense			ENST00000382483.3	1	1	hg19	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707590	0.15239	.	.	ENSG00000183638	ENST00000382483	T	0.08370	3.1	4.01	-8.02	0.01118	.	3.056560	0.01886	N	0.038208	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18263	0.021	T	0.32161	-0.9917	10	0.25106	T	0.35	5.0784	2.6649	0.05041	0.1944:0.4196:0.2104:0.1756	.	2303	A6NKC6	.	S	2303	ENSP00000371923:A2303S	ENSP00000371923:A2303S	A	-	1	0	RP1L1	10502111	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.444000	0.02403	-2.037000	0.00920	-0.431000	0.05894	GCA		TCGA-IB-7651-01A-11D-2154-08	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	0	0	1	284	1234	0	303	0	3.525641e-02	0	2	0	303	2		0	0	0	0	0	2	1	1	278	1209	0	301	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RP1L1	94137	broad.mit.edu	37	8	10465626	10465626	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10465626C>A	ENST00000382483.3	-	4	6205	c.5982G>T	c.(5980-5982)caG>caT	p.Q1994H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1			148					CTGACTCTGGCTGGGCCTCCC	0.602000																								0							SO:0001583	missense			ENST00000382483.3	1	1	hg19	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.483	0.649002	0.14516	.	.	ENSG00000183638	ENST00000382483	T	0.04970	3.52	1.24	1.24	0.21308	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.50570	0.644	T	0.38134	-0.9675	9	0.56958	D	0.05	.	5.0404	0.14456	0.0:0.7812:0.0:0.2188	.	1994	A6NKC6	.	H	1994	ENSP00000371923:Q1994H	ENSP00000371923:Q1994H	Q	-	3	2	RP1L1	10503036	0.059000	0.20769	0.136000	0.22124	0.274000	0.26718	0.878000	0.28126	0.535000	0.28714	0.305000	0.20034	CAG		TCGA-IB-7651-01A-11D-2154-08	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	1	0	1	345	1522	0	342	0	0	1	0	0	342	2		0	0	0	0	0	2	1	1	326	1424	0	340	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIMS2	9699	broad.mit.edu	37	8	104897708	104897708	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104897708G>A	ENST00000436393.2	+	2	456	c.215G>A	c.(214-216)aGg>aAg	p.R72K	RIMS2_ENST00000507740.1_Missense_Mutation_p.R102K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K|RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000522174.1_3'UTR			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2			144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		TTAAGTTATAGGGACTCCAAC	0.408000										HNSCC(12;0.0054)														0							SO:0001583	missense			ENST00000436393.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.9	4.343756	0.82022	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.89;1.87;1.88;1.85;2.27	5.31	5.31	0.75309	.	.	.	.	.	T	0.58906	0.2155	M	0.65975	2.015	0.80722	D	1	P;P;P;D;D	0.63046	0.774;0.921;0.93;0.977;0.992	B;D;P;P;P	0.65233	0.416;0.933;0.712;0.652;0.854	T	0.60801	-0.7191	9	0.59425	D	0.04	.	18.9666	0.92698	0.0:0.0:1.0:0.0	.	325;72;102;102;294	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	K	294;325;294;325;102;102;102;102;72	ENSP00000427018:R294K;ENSP00000384892:R294K;ENSP00000425205:R102K;ENSP00000262231:R102K;ENSP00000423559:R102K;ENSP00000386228:R102K;ENSP00000390665:R72K	ENSP00000262231:R102K	R	+	2	0	RIMS2	104966884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.108000	0.89559	2.474000	0.83562	0.460000	0.39030	AGG		TCGA-IB-7651-01A-11D-2154-08	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	1	0	1	44	327	0	81	0	0	0	1	0	81	2		0	0	0	0	0	2	1	1	44	320	0	81	2								-2.690413	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999087	0.990000	1	9.900000e-01	1
RIMS2	9699	broad.mit.edu	37	8	104922756	104922756	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104922756A>C	ENST00000262231.10	+	3	1504	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2			144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		CATAGTGATAAGGTACTGAGA	0.438000										HNSCC(12;0.0054)														0							SO:0001630	splice_region_variant			ENST00000262231.10	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.14	1.549817	0.27652	.	.	ENSG00000176406	ENST00000402998;ENST00000262231	T	0.17691	2.26	4.78	4.78	0.61160	.	.	.	.	.	T	0.14700	0.0355	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.13407	0.009	T	0.05007	-1.0912	8	0.28530	T	0.3	.	14.6056	0.68475	1.0:0.0:0.0:0.0	.	419	Q9UQ26-1	.	T	642;419	ENSP00000262231:K419T	ENSP00000262231:K419T	K	+	2	0	RIMS2	104991932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.223000	0.95203	1.910000	0.55303	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	RIMS2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000367214.5	0	0	0	14	137	0	32	0	0	0	1	0	32	2		0	0	0	0	0	2	1	9.997923e-01	13	137	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.620000	1.000000	1.000000	0.938995	0.990000	1	8.200000e-01	1
DPYS	1807	broad.mit.edu	37	8	105456654	105456654	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105456654C>A	ENST00000351513.2	-	4	747	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase			41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		GAGCCAACATCTTCTTTGCTC	0.488000																								0							SO:0001583	missense			ENST00000351513.2	1	1	hg19	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026521	0.54683	.	.	ENSG00000147647	ENST00000351513	D	0.89939	-2.59	5.67	3.85	0.44370	Amidohydrolase 1 (1);	0.049823	0.85682	N	0.000000	D	0.87601	0.6218	M	0.72576	2.205	0.40661	D	0.982129	B	0.27229	0.172	B	0.35655	0.207	D	0.84252	0.0478	10	0.87932	D	0	-8.3477	5.362	0.16093	0.1443:0.6411:0.0:0.2146	.	205	Q14117	DPYS_HUMAN	N	205	ENSP00000276651:K205N	ENSP00000276651:K205N	K	-	3	2	DPYS	105525830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.301000	0.43628	0.714000	0.32081	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	1	0	0	15	216	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.998675e-01	15	211	0	50	2								-18.957900	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.750000	0.440000	1.000000	1.000000	0.766147	0.750000	0	5.800000e-01	9.600000e-01
DPYS	1807	broad.mit.edu	37	8	105459595	105459595	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105459595G>A	ENST00000351513.2	-	3	692	c.560C>T	c.(559-561)gCa>gTa	p.A187V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase			41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		CTGGGCAATTGCTCCAATTTC	0.448000																								0							SO:0001583	missense			ENST00000351513.2	1	1	hg19	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583454	0.96578	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.90844	-2.74;-2.65	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.050856	0.85682	D	0.000000	D	0.95140	0.8425	M	0.76727	2.345	0.58432	D	0.999998	D	0.67145	0.996	D	0.64877	0.93	D	0.94741	0.7919	10	0.72032	D	0.01	-23.932	20.547	0.99278	0.0:0.0:1.0:0.0	.	187	Q14117	DPYS_HUMAN	V	187;134	ENSP00000276651:A187V;ENSP00000430246:A134V	ENSP00000276651:A187V	A	-	2	0	DPYS	105528771	1.000000	0.71417	0.933000	0.37362	0.954000	0.61252	9.476000	0.97823	2.850000	0.98022	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	1	0	1	62	263	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	62	258	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPYS	1807	broad.mit.edu	37	8	105463555	105463555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105463555G>A	ENST00000351513.2	-	2	474	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase			41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		GCCAGGTCTCGAAGGCCTCAA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000351513.2	1	1	hg19	CCDS6302.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	1	0	1	38	196	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	37	190	0	65	2								-19.861390	1	1	121412	3	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
LRP12	29967	broad.mit.edu	37	8	105509583	105509583	+	Nonsense_Mutation	SNP	C	C	T	rs5893689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105509583C>T	ENST00000276654.5	-	5	1305	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12			48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		TTGGGCAATGCCAATACCCAT	0.468000																								0							SO:0001587	stop_gained			ENST00000276654.5	0	1	hg19	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	38	6.897695	0.97920	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7409	19.7495	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	X	380;399	.	ENSP00000276654:W399X	W	-	3	0	LRP12	105578759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.456000	0.80751	2.685000	0.91497	0.455000	0.32223	TGG		TCGA-IB-7651-01A-11D-2154-08	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	0	0	1	79	313	1	86	0	9.849704e-01	3	42	1	86	4		0	0	0	0	0	2	1	1	79	305	1	86	16								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP12	29967	broad.mit.edu	37	8	105510183	105510183	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105510183G>T	ENST00000276654.5	-	5	705	c.597C>A	c.(595-597)atC>atA	p.I199I	LRP12_ENST00000424843.2_Silent_p.I180I|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12			48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		CTTTGGCACAGATCTCTTCAT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000276654.5	1	1	hg19	CCDS6303.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	1	0	1	105	559	0	109	1	9.992665e-01	4	54	0	109	2		0	0	0	0	0	2	1	1	104	554	0	109	2								-3.223251	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C8orf74	203076	broad.mit.edu	37	8	10557846	10557846	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10557846G>T	ENST00000304519.5	+	4	779	c.750G>T	c.(748-750)ctG>ctT	p.L250L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74			13					TCTTGGACCTGAAGCTTCAGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000304519.5	1	1	hg19	CCDS47800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	1	0	1	69	374	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	67	369	0	73	2								-3.322926	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SOX7	83595	broad.mit.edu	37	8	10583423	10583423	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10583423T>C	ENST00000304501.1	-	2	1070	c.992A>G	c.(991-993)gAa>gGa	p.E331G	SOX7_ENST00000554914.1_Missense_Mutation_p.E383G|SOX7_ENST00000553390.1_Missense_Mutation_p.E383G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7			20					CTGGTCGAATTCATTGCGATC	0.627000																								0							SO:0001583	missense			ENST00000304501.1	1	1	hg19	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280179	0.80692	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.89875	-2.58;-2.58;-2.58	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.94676	0.8283	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95429	0.8514	10	0.87932	D	0	.	13.3977	0.60863	0.0:0.0:0.0:1.0	.	383;331	B4DKV0;Q9BT81	.;SOX7_HUMAN	G	331;383;383	ENSP00000301921:E331G;ENSP00000452017:E383G;ENSP00000451145:E383G	ENSP00000346908:E383G	E	-	2	0	SOX7;CTD-2135J3.4	10620833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	1.932000	0.55993	0.459000	0.35465	GAA		TCGA-IB-7651-01A-11D-2154-08	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1	1	0	1	52	237	0	45	1	9.857263e-01	11	22	0	45	2	0	0	1	0	0	0	2	1	1	50	226	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFPM2	23414	broad.mit.edu	37	8	106814456	106814456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:106814456C>T	ENST00000407775.2	+	8	2396	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2			99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		ACGCCACGACCCTCCACTGAA	0.502000																								0							SO:0001583	missense			ENST00000407775.2	1	1	hg19	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422952	0.83559	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.25749	1.78;2.29;2.29;3.54	5.72	5.72	0.89469	.	0.046322	0.85682	D	0.000000	T	0.53270	0.1786	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.47522	-0.9111	10	0.46703	T	0.11	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	716	Q8WW38	FOG2_HUMAN	S	716;584;584;447	ENSP00000384179:P716S;ENSP00000430757:P584S;ENSP00000428720:P584S;ENSP00000367733:P447S	ENSP00000367733:P447S	P	+	1	0	ZFPM2	106883632	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	1	0	1	37	126	0	38	0	9.331741e-01	0	18	0	38	2		0	0	0	0	0	2	1	1	37	126	0	38	2								-4.067062	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XKR6	286046	broad.mit.edu	37	8	10755726	10755726	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10755726G>A	ENST00000416569.2	-	3	1688	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	XKR6_ENST00000304437.2_Silent_p.L275L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6			31					TGTCAGCCGTGAGATCCTCCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000416569.2	1	1	hg19	CCDS5978.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.635	-0.074829	0.07184	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	T	0.61324	0.2338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58792	-0.7574	4	.	.	.	-7.9244	10.5583	0.45131	0.0878:0.0:0.9122:0.0	.	.	.	.	L	331	.	.	S	-	2	0	XKR6	10793136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.189000	0.42621	2.479000	0.83701	0.561000	0.74099	TCA		TCGA-IB-7651-01A-11D-2154-08	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	0	0	1	40	182	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	39	181	0	46	2								-20.000000	1	1	121412	2	28	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
XKR6	286046	broad.mit.edu	37	8	10756176	10756176	+	Silent	SNP	G	G	A	rs139763869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10756176G>A	ENST00000416569.2	-	3	1238	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	XKR6_ENST00000304437.2_Silent_p.G125G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6			31					AGTCTGTTCCGCCATGGATGA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000416569.2	1	1	hg19	CCDS5978.2	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	3.745	-0.052838	0.07362	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.27	1.98	0.26296	.	.	.	.	.	T	0.57740	0.2074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51787	-0.8661	4	.	.	.	-0.0538	8.8542	0.35219	0.3603:0.0:0.6397:0.0	.	.	.	.	V	181	.	.	A	-	2	0	XKR6	10793586	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.370000	0.20433	0.590000	0.29694	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	1	0	1	42	150	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	42	146	0	50	2								-3.765084	1	1	121412	7	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABRA	137735	broad.mit.edu	37	8	107781789	107781789	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781789C>A	ENST00000311955.3	-	1	684	c.630G>T	c.(628-630)caG>caT	p.Q210H		NM_139166.4	NP_631905.1			actin-binding Rho activating protein			27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		CCACAGCCACCTGCACTCCAT	0.587000																								0							SO:0001583	missense			ENST00000311955.3	1	1	hg19	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377609	0.11466	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	2.04	0.26737	.	0.741285	0.13532	N	0.380862	T	0.30696	0.0773	L	0.43152	1.355	0.24564	N	0.993958	B	0.09022	0.002	B	0.09377	0.004	T	0.21211	-1.0252	9	0.48119	T	0.1	-32.5051	4.5672	0.12193	0.1199:0.502:0.2599:0.1182	.	210	Q8N0Z2	ABRA_HUMAN	H	210	.	ENSP00000311436:Q210H	Q	-	3	2	ABRA	107850965	0.000000	0.05858	0.989000	0.46669	0.118000	0.20060	-0.066000	0.11598	0.872000	0.35775	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	0	0	1	232	1055	1	224		0	0	0	1	224	2		0	0	0	0	0	2	1	1	224	1009	1	221	19								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM74	157753	broad.mit.edu	37	8	109796947	109796947	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:109796947C>T	ENST00000297459.3	-	2	559	c.381G>A	c.(379-381)tcG>tcA	p.S127S	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74			29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		TTGCTGATGGCGAGCTCCGGT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000297459.3	1	1	hg19	CCDS6310.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	1	0	1	85	384	0	85	0	3.365540e-02	0	2	0	85	2		0	0	0	0	0	2	1	1	83	376	0	85	2								-3.095332	1	1	121410	10	41	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRHR	7201	broad.mit.edu	37	8	110100072	110100072	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110100072G>T	ENST00000518632.1	+	2	682	c.331G>T	c.(331-333)Gca>Tca	p.A111S	TRHR_ENST00000311762.2_Missense_Mutation_p.A111S			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor			37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		GGGAATTAATGCATCCTCTTG	0.453000																								0							SO:0001583	missense			ENST00000518632.1	1	1	hg19	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576023	0.65878	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.75154	-0.91;-0.91	6.06	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.093441	0.64402	D	0.000001	T	0.80732	0.4679	M	0.74258	2.255	0.47476	D	0.999437	P	0.50443	0.935	P	0.57620	0.824	T	0.80489	-0.1360	10	0.87932	D	0	-15.3417	7.0669	0.25157	0.14:0.0:0.7194:0.1405	.	111	P34981	TRFR_HUMAN	S	111	ENSP00000430711:A111S;ENSP00000309818:A111S	ENSP00000309818:A111S	A	+	1	0	TRHR	110169248	1.000000	0.71417	0.802000	0.32245	0.998000	0.95712	9.860000	0.99555	0.883000	0.36040	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1	0	0	0	36	394	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	36	390	0	98	2								-10.553960	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.960000	0.690000	1.000000	1.000000	0.929680	0.960000	1	8.200000e-01	1
NUDCD1	84955	broad.mit.edu	37	8	110283254	110283254	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110283254T>C	ENST00000239690.4	-	8	1653	c.1279A>G	c.(1279-1281)Aca>Gca	p.T427A	NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	NM_032869.3	NP_116258.2			NudC domain containing 1			25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		GTTTTTAATGTATTGCCATCA	0.299000																								0							SO:0001583	missense			ENST00000239690.4	1	1	hg19	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294889	0.05568	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18810	2.19;2.19	6.0	3.59	0.41128	.	0.210241	0.49305	D	0.000152	T	0.12774	0.0310	L	0.39397	1.21	0.09310	N	0.999999	B;B;B	0.27498	0.18;0.001;0.043	B;B;B	0.22753	0.041;0.002;0.018	T	0.28073	-1.0055	10	0.17369	T	0.5	-0.6864	3.6097	0.08055	0.1331:0.0704:0.1391:0.6574	.	340;427;398	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	A	427;398	ENSP00000239690:T427A;ENSP00000410707:T398A	ENSP00000239690:T427A	T	-	1	0	NUDCD1	110352430	0.997000	0.39634	0.107000	0.21349	0.002000	0.02628	2.764000	0.47613	0.494000	0.27859	-0.256000	0.11100	ACA		TCGA-IB-7651-01A-11D-2154-08	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	1	0	1	85	283	0	95	1	9.999995e-01	21	51	0	95	2		0	0	0	0	0	2	1	1	80	278	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110408262	110408262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110408262C>T	ENST00000378402.5	+	11	922	c.818C>T	c.(817-819)aCc>aTc	p.T273I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		CCAGAGGTCACCATGATTTTC	0.383000										HNSCC(38;0.096)														0							SO:0001583	missense			ENST00000378402.5	0	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388695	0.25118	.	.	ENSG00000205038	ENST00000378402	T	0.79247	-1.25	5.8	3.94	0.45596	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.192761	0.43579	D	0.000543	D	0.83166	0.5195	M	0.83384	2.64	0.58432	D	0.999996	D	0.53151	0.958	P	0.53988	0.739	T	0.80910	-0.1171	10	0.31617	T	0.26	.	10.0449	0.42180	0.0:0.7851:0.1381:0.0767	.	273	Q86WI1	PKHL1_HUMAN	I	273	ENSP00000367655:T273I	ENSP00000367655:T273I	T	+	2	0	PKHD1L1	110477438	0.967000	0.33354	0.404000	0.26397	0.024000	0.10985	2.277000	0.43417	0.740000	0.32651	0.650000	0.86243	ACC		TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	0	0	11	47	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.986340e-01	11	45	0	8	2								-19.963480	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.997710	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110442244	110442244	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110442244C>A	ENST00000378402.5	+	27	3311	c.3207C>A	c.(3205-3207)gtC>gtA	p.V1069V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		CTCCCCTAGTCTTGGCGATAA	0.368000										HNSCC(38;0.096)														0							SO:0001819	synonymous_variant			ENST00000378402.5	1	1	hg19	CCDS47911.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1	18	92	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.999889e-01	18	91	0	24	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999288	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110457518	110457518	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110457518T>C	ENST00000378402.5	+	38	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		CCTCTCCCAGTTGGACATCAT	0.453000										HNSCC(38;0.096)														0							SO:0001583	missense			ENST00000378402.5	1	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	2.733	-0.263898	0.05754	.	.	ENSG00000205038	ENST00000378402	T	0.75050	-0.9	6.03	5.15	0.70609	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.061993	0.64402	N	0.000005	T	0.42223	0.1193	N	0.01228	-0.945	0.34605	D	0.716951	B	0.02656	0.0	B	0.06405	0.002	T	0.50558	-0.8814	10	0.02654	T	1	.	12.3253	0.55007	0.0:0.9171:0.0:0.0829	.	1807	Q86WI1	PKHL1_HUMAN	A	1807	ENSP00000367655:V1807A	ENSP00000367655:V1807A	V	+	2	0	PKHD1L1	110526694	0.999000	0.42202	0.988000	0.46212	0.394000	0.30568	2.764000	0.47613	1.532000	0.49169	-0.242000	0.12053	GTT		TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1	84	317	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	83	313	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110471888	110471888	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110471888A>G	ENST00000378402.5	+	47	7173	c.7069A>G	c.(7069-7071)Aca>Gca	p.T2357A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		CATAAACATAACACTAAGTAA	0.348000										HNSCC(38;0.096)														0							SO:0001583	missense			ENST00000378402.5	1	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.382117	0.42207	.	.	ENSG00000205038	ENST00000378402	D	0.93133	-3.17	5.44	4.26	0.50523	.	0.060492	0.64402	D	0.000005	D	0.91036	0.7180	M	0.68952	2.095	0.09310	N	1	B	0.22604	0.072	B	0.25506	0.061	T	0.80991	-0.1135	10	0.30854	T	0.27	.	9.9275	0.41501	0.8475:0.0:0.0:0.1525	.	2357	Q86WI1	PKHL1_HUMAN	A	2357	ENSP00000367655:T2357A	ENSP00000367655:T2357A	T	+	1	0	PKHD1L1	110541064	0.927000	0.31430	0.014000	0.15608	0.929000	0.56500	4.668000	0.61568	0.881000	0.35993	0.374000	0.22700	ACA		TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1	19	52	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999969e-01	19	52	0	12	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110478873	110478873	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478873C>A	ENST00000378402.5	+	50	8584	c.8480C>A	c.(8479-8481)gCt>gAt	p.A2827D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		ACTCAGGAAGCTGAGTGGAGC	0.448000										HNSCC(38;0.096)														0							SO:0001583	missense			ENST00000378402.5	0	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338684	0.24253	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.16	4.26	0.50523	.	0.606576	0.16114	N	0.228944	T	0.80330	0.4603	L	0.48642	1.525	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.62539	-0.6833	10	0.11485	T	0.65	.	8.8625	0.35267	0.3014:0.553:0.1456:0.0	.	2827	Q86WI1	PKHL1_HUMAN	D	2827	ENSP00000367655:A2827D	ENSP00000367655:A2827D	A	+	2	0	PKHD1L1	110548049	0.002000	0.14202	0.098000	0.21074	0.605000	0.37080	1.615000	0.36922	1.597000	0.50072	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1	10	68	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.975151e-01	10	68	0	16	2								-17.649680	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.750000	1.000000	1.000000	0.981926	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110478960	110478960	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478960C>A	ENST00000378402.5	+	50	8671	c.8567C>A	c.(8566-8568)tCt>tAt	p.S2856Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		TCTCCAGTATCTCTGCTTGAA	0.398000										HNSCC(38;0.096)														0							SO:0001583	missense			ENST00000378402.5	1	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095845	0.76870	.	.	ENSG00000205038	ENST00000378402	D	0.88124	-2.34	6.16	6.16	0.99307	.	0.065168	0.64402	D	0.000006	D	0.91395	0.7285	M	0.74258	2.255	0.43863	D	0.996461	P	0.46578	0.88	P	0.51701	0.677	D	0.91602	0.5296	10	0.87932	D	0	.	18.3537	0.90348	0.0:1.0:0.0:0.0	.	2856	Q86WI1	PKHL1_HUMAN	Y	2856	ENSP00000367655:S2856Y	ENSP00000367655:S2856Y	S	+	2	0	PKHD1L1	110548136	1.000000	0.71417	0.755000	0.31263	0.434000	0.31775	6.559000	0.73946	2.937000	0.99478	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	0	0	8	121	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.897800e-01	8	120	0	22	2								-11.920630	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.730000	0.350000	1.000000	1.000000	0.739379	0.730000	0	5.200000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110503218	110503218	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110503218A>G	ENST00000378402.5	+	61	10106	c.10002A>G	c.(10000-10002)tcA>tcG	p.S3334S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		AACATGGCTCATCTTATATTC	0.318000										HNSCC(38;0.096)														0							SO:0001819	synonymous_variant			ENST00000378402.5	0	1	hg19	CCDS47911.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	0	0	50	191	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	47	188	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110505909	110505909	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110505909C>T	ENST00000378402.5	+	63	10360	c.10256C>T	c.(10255-10257)aCa>aTa	p.T3419I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		GGGACCAATACAGTTTTACAG	0.358000										HNSCC(38;0.096)														0							SO:0001583	missense			ENST00000378402.5	1	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079808	0.20309	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.79749	-1.3;-1.3	6.08	6.08	0.98989	Pectin lyase fold/virulence factor (1);	0.201560	0.43747	D	0.000533	T	0.65217	0.2670	N	0.12569	0.235	0.27387	N	0.955256	B	0.18310	0.027	B	0.24701	0.055	T	0.52472	-0.8571	10	0.21014	T	0.42	.	11.4294	0.50032	0.0:0.919:0.0:0.081	.	3419	Q86WI1	PKHL1_HUMAN	I	3419;347	ENSP00000367655:T3419I;ENSP00000437376:T347I	ENSP00000367655:T3419I	T	+	2	0	PKHD1L1	110575085	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.764000	0.62264	2.894000	0.99253	0.591000	0.81541	ACA		TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1	26	114	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	9.073837e-01	26	109	1	22	18								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110509151	110509151	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509151A>C	ENST00000378402.5	+	64	10435	c.10331A>C	c.(10330-10332)cAg>cCg	p.Q3444P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		CTCCAAGGCCAGTTTAATCCT	0.353000										HNSCC(38;0.096)														0							SO:0001583	missense			ENST00000378402.5	1	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	5.872	0.345001	0.11126	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80480	-1.38;-1.38	5.64	1.7	0.24286	Pectin lyase fold/virulence factor (1);	0.537282	0.18922	N	0.127454	T	0.70684	0.3252	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.56601	-0.7952	10	0.33141	T	0.24	.	5.5863	0.17277	0.5405:0.1574:0.0:0.3021	.	3444	Q86WI1	PKHL1_HUMAN	P	3444;372	ENSP00000367655:Q3444P;ENSP00000437376:Q372P	ENSP00000367655:Q3444P	Q	+	2	0	PKHD1L1	110578327	0.180000	0.23148	0.176000	0.23000	0.438000	0.31896	0.570000	0.23653	0.044000	0.15775	0.528000	0.53228	CAG		TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1	59	337	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	58	325	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PKHD1L1	93035	broad.mit.edu	37	8	110509385	110509385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509385G>T	ENST00000378402.5	+	65	10587	c.10483G>T	c.(10483-10485)Gag>Tag	p.E3495*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1			263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		GCAGACCACAGAGAGTGTGCA	0.328000										HNSCC(38;0.096)														0							SO:0001587	stop_gained			ENST00000378402.5	0	1	hg19	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	37	6.553308	0.97658	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	6.02	6.02	0.97574	.	0.109197	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	.	.	.	X	3495;423	.	ENSP00000367655:E3495X	E	+	1	0	PKHD1L1	110578561	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.411000	0.59781	2.857000	0.98124	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	1	0	1	48	315	0	74	0	0	1	0	0	74	2		0	0	0	0	0	2	1	1	46	311	0	74	2								-2.966801	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
EBAG9	9166	broad.mit.edu	37	8	110569174	110569174	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110569174A>T	ENST00000337573.5	+	5	632	c.332A>T	c.(331-333)aAg>aTg	p.K111M	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.K111M|EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9			10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		ATTGTTATTAAGAAGAGAGAA	0.313000																								0							SO:0001583	missense			ENST00000337573.5	1	1	hg19	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422701	0.83559	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.69258	-0.5192	9	0.87932	D	0	-3.5603	15.4632	0.75377	1.0:0.0:0.0:0.0	.	111	O00559	RCAS1_HUMAN	M	111;14;111;111;111	.	ENSP00000337675:K111M	K	+	2	0	EBAG9	110638350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.618000	0.90932	2.307000	0.77673	0.528000	0.53228	AAG		TCGA-IB-7651-01A-11D-2154-08	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	1	0	1	12	108	0	28	1	9.997084e-01	27	111	0	28	2		0	0	0	0	0	2	1	9.992416e-01	12	107	0	28	2								-18.752730	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.640000	1.000000	1.000000	0.952874	0.990000	1	8.700000e-01	1
MTMR9	66036	broad.mit.edu	37	8	11157552	11157552	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11157552C>A	ENST00000221086.3	+	3	785	c.312C>A	c.(310-312)tcC>tcA	p.S104S	MTMR9_ENST00000526292.1_Silent_p.S19S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9			16			STAD - Stomach adenocarcinoma(15;0.215)		CTCTGGACTCCATCACTCTGA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000221086.3	1	1	hg19	CCDS5979.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	0	0	0	33	847	0	139	0	4.677751e-01	0	41	0	139	2		0	0	0	0	0	2	1	1	33	826	0	137	2								-3.266704	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.430000	0.300000	0.590000	0.430000	0.445447	0.430000	0	3.600000e-01	5.200000e-01
MTMR9	66036	broad.mit.edu	37	8	11163894	11163894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11163894C>T	ENST00000221086.3	+	5	1260	c.787C>T	c.(787-789)Cga>Tga	p.R263*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R178*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9			16			STAD - Stomach adenocarcinoma(15;0.215)		TCAGTGGAGGCGAATTCATAA	0.433000																								0							SO:0001587	stop_gained			ENST00000221086.3	0	1	hg19	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	C	39	7.287206	0.98189	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	.	.	.	5.67	4.78	0.61160	.	0.046380	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	13.4248	0.61020	0.3:0.7:0.0:0.0	.	.	.	.	X	263;178	.	ENSP00000221086:R263X	R	+	1	2	MTMR9	11201304	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.521000	0.35910	1.362000	0.46000	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	1	0	0	9	225	0	40	0	2.707435e-01	0	24	0	40	2		0	0	0	0	0	2	1	9.940259e-01	8	222	0	40	2								-10.725880	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.460000	0.220000	0.780000	0.440000	0.481405	0.460000	0	3.200000e-01	6.200000e-01
MTMR9	66036	broad.mit.edu	37	8	11180276	11180276	+	Silent	SNP	C	C	T	rs148685240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11180276C>T	ENST00000221086.3	+	10	2102	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Silent_p.D458D	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9			16			STAD - Stomach adenocarcinoma(15;0.215)		AAACAGAGGACGGGATGCAGG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000221086.3	1	1	hg19	CCDS5979.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	1	0	1	49	249	0	72	1	9.647891e-01	3	27	0	72	2		0	0	0	0	0	2	1	1	49	247	0	72	2								-20.000000	1	1	121412	6	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FAM167A	83648	broad.mit.edu	37	8	11301625	11301625	+	Missense_Mutation	SNP	C	C	A	rs78823081	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11301625C>A	ENST00000528897.1	-	2	915	c.296G>T	c.(295-297)aGc>aTc	p.S99I	FAM167A_ENST00000534308.1_Missense_Mutation_p.S99I|FAM167A_ENST00000284486.4_Missense_Mutation_p.S99I|FAM167A_ENST00000531564.1_5'Flank			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A			9					GGCACCTTGGCTGGCACTCCT	0.652000																								0							SO:0001583	missense			ENST00000528897.1	1	0	hg19	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900422	0.33535	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897	T;T;T	0.08634	3.07;3.07;3.07	5.42	1.44	0.22558	.	1.105750	0.06575	N	0.749347	T	0.07007	0.0178	L	0.40543	1.245	0.09310	N	1	P	0.34780	0.468	B	0.26969	0.075	T	0.36792	-0.9733	10	0.62326	D	0.03	-0.1598	4.9173	0.13853	0.0:0.4039:0.274:0.3221	.	99	Q96KS9	F167A_HUMAN	I	99	ENSP00000284486:S99I;ENSP00000432232:S99I;ENSP00000436655:S99I	ENSP00000284486:S99I	S	-	2	0	FAM167A	11339035	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.265000	0.18515	0.664000	0.31047	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1	1	0	0	37	395	0	57	0	6.508388e-02	0	5	0	57	2		0	0	0	0	0	2	1	1	37	387	0	56	2								-3.318794	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.710000	1.000000	1.000000	0.940914	0.990000	1	8.400000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113237091	113237091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113237091T>G	ENST00000297405.5	-	71	11277	c.11033A>C	c.(11032-11034)gAa>gCa	p.E3678A	CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					CATGGGATTTTCAAAAGCTGC	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128914	0.77549	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.41400	1.36;1.34;1.44;1.0;1.4	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.65606	0.2707	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.961	D;D;P	0.80764	0.994;0.986;0.712	T	0.69548	-0.5116	10	0.87932	D	0	.	16.1416	0.81528	0.0:0.0:0.0:1.0	.	3509;3678;3638	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3638;3678;2948;3509;3608	ENSP00000345799:E3638A;ENSP00000297405:E3678A;ENSP00000341558:E2948A;ENSP00000412263:E3509A;ENSP00000343124:E3608A	ENSP00000297405:E3678A	E	-	2	0	CSMD3	113306267	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.920000	0.87521	2.209000	0.71365	0.482000	0.46254	GAA		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	111	546	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1	110	535	0	135	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113246693	113246693	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113246693G>A	ENST00000297405.5	-	68	10885	c.10641C>T	c.(10639-10641)agC>agT	p.S3547S	CSMD3_ENST00000352409.3_Silent_p.S3477S|CSMD3_ENST00000455883.2_Silent_p.S3378S|CSMD3_ENST00000343508.3_Silent_p.S3507S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					GAGCTTCCTGGCTTTTATATA	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001819	synonymous_variant			ENST00000297405.5	1	1	hg19	CCDS6315.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	102	431	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	99	422	0	112	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113317044	113317044	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113317044G>T	ENST00000297405.5	-	52	8416	c.8172C>A	c.(8170-8172)agC>agA	p.S2724R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					CAGGGTCACAGCTGAAAACTA	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158734	0.38119	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.04	1.25	0.21368	Complement control module (2);Sushi/SCR/CCP (3);	0.071935	0.56097	D	0.000029	T	0.48978	0.1530	L	0.28504	0.86	0.42354	D	0.992383	B;P	0.44877	0.428;0.845	B;P	0.44860	0.309;0.462	T	0.30679	-0.9970	10	0.28530	T	0.3	.	9.3541	0.38155	0.3569:0.0:0.6431:0.0	.	2724;2684	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	R	2684;2724;1994;2654	ENSP00000345799:S2684R;ENSP00000297405:S2724R;ENSP00000341558:S1994R;ENSP00000343124:S2654R	ENSP00000297405:S2724R	S	-	3	2	CSMD3	113386220	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.787000	0.47798	-0.000000	0.14550	-0.150000	0.13652	AGC		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	42	239	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	42	235	0	70	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113347602	113347602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113347602T>C	ENST00000297405.5	-	45	7365	c.7121A>G	c.(7120-7122)cAc>cGc	p.H2374R	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					GAAATCACTGTGGAATTTGAT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755265	0.69648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.68	4.68	0.58851	CUB (5);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	N	0.20357	0.565	0.54753	D	0.999988	D;D;P	0.69078	0.997;0.996;0.627	D;D;P	0.83275	0.996;0.996;0.646	T	0.58595	-0.7609	10	0.25751	T	0.34	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	2270;2374;2334	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2334;2374;1644;2270;2304	ENSP00000345799:H2334R;ENSP00000297405:H2374R;ENSP00000341558:H1644R;ENSP00000412263:H2270R;ENSP00000343124:H2304R	ENSP00000297405:H2374R	H	-	2	0	CSMD3	113416778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.094000	0.63399	0.477000	0.44152	CAC		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	0	43	174	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	43	172	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113348918	113348918	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113348918G>T	ENST00000297405.5	-	44	7226	c.6982C>A	c.(6982-6984)Ctt>Att	p.L2328I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					TCTGTTTGAAGGACAGTAAAA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480405	0.63849	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.64	5.64	0.86602	CUB (5);	0.193950	0.34025	N	0.004330	T	0.40956	0.1138	L	0.39245	1.2	0.49213	D	0.999767	B;B;D	0.89917	0.145;0.02;1.0	B;B;D	0.91635	0.159;0.074;0.999	T	0.02893	-1.1097	10	0.49607	T	0.09	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2224;2328;2288	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2288;2328;1598;2224;2258	ENSP00000345799:L2288I;ENSP00000297405:L2328I;ENSP00000341558:L1598I;ENSP00000412263:L2224I;ENSP00000343124:L2258I	ENSP00000297405:L2328I	L	-	1	0	CSMD3	113418094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.937000	0.99478	0.650000	0.86243	CTT		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	93	438	0	173		0	0	0	0	173	2		0	0	0	0	0	2	1	1	92	433	0	172	2								-2.915366	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113358415	113358415	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113358415A>C	ENST00000297405.5	-	41	6597	c.6353T>G	c.(6352-6354)tTc>tGc	p.F2118C	CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					CACACCACTGAAGTCTGACAT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235999	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.44	5.44	0.79542	CUB (5);	0.071493	0.56097	D	0.000031	T	0.29620	0.0739	L	0.34521	1.04	0.53005	D	0.999968	D;D;D	0.71674	0.998;0.973;0.994	D;P;D	0.66497	0.944;0.852;0.916	T	0.01259	-1.1403	10	0.39692	T	0.17	.	15.6637	0.77209	1.0:0.0:0.0:0.0	.	2014;2118;2078	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2078;2118;1388;2014;2048	ENSP00000345799:F2078C;ENSP00000297405:F2118C;ENSP00000341558:F1388C;ENSP00000412263:F2014C;ENSP00000343124:F2048C	ENSP00000297405:F2118C	F	-	2	0	CSMD3	113427591	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.097000	0.94193	2.285000	0.76669	0.528000	0.53228	TTC		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	0	13	324	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	9.994923e-01	13	317	0	96	2								-4.164572	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.450000	0.250000	0.720000	0.440000	0.472603	0.450000	0	3.400000e-01	5.900000e-01
CSMD3	114788	broad.mit.edu	37	8	113418858	113418858	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113418858A>C	ENST00000297405.5	-	35	5948	c.5704T>G	c.(5704-5706)Ttt>Gtt	p.F1902V	CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					TTACAATCAAAAAGAACCGAT	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817349	0.90790	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.92691	3.335	0.48040	D	0.999579	D;B;D	0.76494	0.985;0.016;0.999	P;B;D	0.91635	0.771;0.02;0.999	D	0.88209	0.2889	10	0.52906	T	0.07	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	1798;1902;1862	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1862;1902;1172;1798;1832	ENSP00000345799:F1862V;ENSP00000297405:F1902V;ENSP00000341558:F1172V;ENSP00000412263:F1798V;ENSP00000343124:F1832V	ENSP00000297405:F1902V	F	-	1	0	CSMD3	113488034	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.087000	0.94110	2.198000	0.70561	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	85	366	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1	83	361	0	87	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113504912	113504912	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113504912G>A	ENST00000297405.5	-	31	5328	c.5084C>T	c.(5083-5085)gCa>gTa	p.A1695V	CSMD3_ENST00000352409.3_Splice_Site_p.A1695V|CSMD3_ENST00000455883.2_Splice_Site_p.A1591V|CSMD3_ENST00000343508.3_Splice_Site_p.A1655V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					TCGCAGTTTTGCTGTAAAACA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001630	splice_region_variant			ENST00000297405.5	1	0	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650331	0.87958	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.9	4.9	0.64082	CUB (4);	0.000000	0.64402	D	0.000001	T	0.41050	0.1142	L	0.59436	1.845	0.36825	D	0.886589	D;D;P	0.62365	0.991;0.985;0.935	D;P;P	0.63703	0.917;0.828;0.647	T	0.23013	-1.0200	10	0.27785	T	0.31	.	18.6241	0.91331	0.0:0.0:1.0:0.0	.	1591;1695;1655	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1655;1695;1035;1591;1695	ENSP00000345799:A1655V;ENSP00000297405:A1695V;ENSP00000341558:A1035V;ENSP00000412263:A1591V;ENSP00000343124:A1695V	ENSP00000297405:A1695V	A	-	2	0	CSMD3	113574088	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.315000	0.59172	2.704000	0.92352	0.585000	0.79938	GCA		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	62	301	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	61	299	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113519014	113519014	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113519014A>C	ENST00000297405.5	-	29	5045	c.4801T>G	c.(4801-4803)Tca>Gca	p.S1601A	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					AAGTTTGGTGAAAGAATAAAG	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406395	0.83230	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000004	T	0.61009	0.2313	M	0.92649	3.33	0.36203	D	0.850835	P;P;D	0.54772	0.928;0.884;0.968	B;P;P	0.61800	0.335;0.525;0.894	T	0.74910	-0.3503	10	0.40728	T	0.16	.	14.85	0.70289	1.0:0.0:0.0:0.0	.	1497;1601;1561	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	1561;1601;941;1497;1601	ENSP00000345799:S1561A;ENSP00000297405:S1601A;ENSP00000341558:S941A;ENSP00000412263:S1497A;ENSP00000343124:S1601A	ENSP00000297405:S1601A	S	-	1	0	CSMD3	113588190	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.139000	0.94554	2.091000	0.63221	0.455000	0.32223	TCA		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	45	261	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	45	258	0	47	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113697892	113697892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113697892C>T	ENST00000297405.5	-	15	2469	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					TAAATTATTTCCATACCCTTC	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098694	0.76870	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000001	T	0.40119	0.1104	M	0.66939	2.045	0.52501	D	0.999954	D;D;D	0.89917	0.984;1.0;1.0	D;D;D	0.97110	0.96;1.0;1.0	T	0.08534	-1.0717	10	0.10902	T	0.67	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	638;742;702	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	702;742;82;638;742	ENSP00000345799:G702E;ENSP00000297405:G742E;ENSP00000341558:G82E;ENSP00000412263:G638E;ENSP00000343124:G742E	ENSP00000297405:G742E	G	-	2	0	CSMD3	113767068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	0	0	1	94	403	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	90	396	0	104	2								-3.465387	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113812486	113812486	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113812486A>G	ENST00000297405.5	-	13	2121	c.1877T>C	c.(1876-1878)gTa>gCa	p.V626A	CSMD3_ENST00000352409.3_Missense_Mutation_p.V626A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A|CSMD3_ENST00000343508.3_Missense_Mutation_p.V586A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					CAAGTCTGGTACAAAGCTTCC	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001583	missense			ENST00000297405.5	0	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409375	0.83340	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.83	5.83	0.93111	CUB (5);	0.000000	0.64402	D	0.000010	T	0.26159	0.0638	L	0.41079	1.255	0.42957	D	0.994393	P;P;P	0.50819	0.928;0.939;0.826	P;P;B	0.57620	0.591;0.824;0.401	T	0.02668	-1.1126	10	0.09084	T	0.74	.	16.1997	0.82060	1.0:0.0:0.0:0.0	.	522;626;586	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	586;626;522;626	ENSP00000345799:V586A;ENSP00000297405:V626A;ENSP00000412263:V522A;ENSP00000343124:V626A	ENSP00000297405:V626A	V	-	2	0	CSMD3	113881662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.127000	0.94417	2.240000	0.73641	0.528000	0.53228	GTA		TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	0	0	0	7	306	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	9.800128e-01	7	302	0	58	2								-7.803357	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.270000	0.120000	0.500000	0.260000	0.290295	0.270000	0	1.800000e-01	3.900000e-01
CSMD3	114788	broad.mit.edu	37	8	114186024	114186024	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114186024G>A	ENST00000297405.5	-	4	880	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CSMD3_ENST00000352409.3_Silent_p.G212G|CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					GCTGAGGGTGGCCATCAAGGA	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001819	synonymous_variant			ENST00000297405.5	1	1	hg19	CCDS6315.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	115	459	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	117	450	0	94	2								-3.398996	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD3	114788	broad.mit.edu	37	8	114290828	114290828	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114290828A>G	ENST00000297405.5	-	3	751	c.507T>C	c.(505-507)taT>taC	p.Y169Y	CSMD3_ENST00000352409.3_Silent_p.Y169Y|CSMD3_ENST00000455883.2_Silent_p.Y169Y|CSMD3_ENST00000343508.3_Silent_p.Y129Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					TACCTTCGTAATATACCTTAA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001819	synonymous_variant			ENST00000297405.5	1	1	hg19	CCDS6315.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	0	21	230	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	9.999979e-01	21	228	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.970000	0.620000	1.000000	1.000000	0.914773	0.970000	1	7.800000e-01	1
GATA4	2626	broad.mit.edu	37	8	11606439	11606439	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11606439G>A	ENST00000335135.4	+	3	1186	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GATA4_ENST00000528712.1_Missense_Mutation_p.D4N|GATA4_ENST00000532059.1_Missense_Mutation_p.D211N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4			13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)		TATGTTTGACGACTTCTCAGA	0.517000																								0							SO:0001583	missense			ENST00000335135.4	1	1	hg19	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337542	0.81911	2.27E-4	0.0	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.98996	-5.31;-5.15;-4.74;-4.75	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.98937	0.9639	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.69654	0.965;0.703	D	0.99731	1.1012	10	0.62326	D	0.03	0.139	18.0083	0.89216	0.0:0.0:1.0:0.0	.	211;210	B7ZKZ4;P43694	.;GATA4_HUMAN	N	4;4;210;209;211	ENSP00000435043:D4N;ENSP00000435347:D4N;ENSP00000334458:D210N;ENSP00000435712:D211N	ENSP00000259090:D209N	D	+	1	0	GATA4	11643848	1.000000	0.71417	0.971000	0.41717	0.935000	0.57460	9.302000	0.96175	2.793000	0.96121	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	0	0	1	143	653	0	177	1	8.961416e-01	7	13	0	177	2		0	0	0	0	0	2	1	1	141	646	0	177	2								-20.000000	1	1	121412	4	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEIL2	252969	broad.mit.edu	37	8	11643740	11643740	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11643740G>A	ENST00000284503.6	+	5	1556	c.957G>A	c.(955-957)caG>caA	p.Q319Q	NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q|NEIL2_ENST00000528323.1_Silent_p.Q203Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)			10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)		CGCAGTGCCAGCCCCAGTTGT	0.602000								Base excision repair (BER), DNA glycosylases																0							SO:0001819	synonymous_variant			ENST00000284503.6	1	1	hg19	CCDS5984.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	0	0	1	8	180	0	39	1	9.040668e-01	11	85	0	39	2		0	0	0	0	0	2	1	9.891446e-01	8	177	0	39	2								-10.578040	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.510000	0.240000	0.890000	0.490000	0.534331	0.510000	0	3.500000e-01	7.000000e-01
FDFT1	2222	broad.mit.edu	37	8	11660380	11660380	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11660380C>A	ENST00000220584.4	+	1	261	c.39C>A	c.(37-39)ttC>ttA	p.F13L	FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|RP11-297N6.4_ENST00000533405.1_5'Flank|FDFT1_ENST00000528812.1_5'Flank|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1			12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)		CCGAAGAGTTCTACAACCTGG	0.682000																								0							SO:0001583	missense			ENST00000220584.4	1	1	hg19	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896273	0.52121	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900	T;T;T;T	0.35236	1.32;1.89;1.86;1.87	5.04	4.17	0.49024	.	0.183845	0.45867	D	0.000328	T	0.17323	0.0416	N	0.16478	0.41	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.09378	-1.0677	10	0.02654	T	1	-27.1942	8.0589	0.30621	0.1569:0.7621:0.0:0.081	.	13;13;13	B4DJE5;E9PNM1;P37268	.;.;FDFT_HUMAN	L	13	ENSP00000431852:F13L;ENSP00000220584:F13L;ENSP00000390367:F13L;ENSP00000434714:F13L	ENSP00000220584:F13L	F	+	3	2	FDFT1	11697789	0.997000	0.39634	1.000000	0.80357	0.931000	0.56810	0.312000	0.19397	1.266000	0.44231	0.485000	0.47835	TTC		TCGA-IB-7651-01A-11D-2154-08	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2	1	0	1	25	72	0	14	1	1	178	327	0	14	2		0	0	0	0	0	2	1	1	25	71	0	13	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
TRPS1	7227	broad.mit.edu	37	8	116616583	116616583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116616583C>T	ENST00000220888.5	-	3	1733	c.1574G>A	c.(1573-1575)tGt>tAt	p.C525Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.C538Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I			111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		ACAGAACTGACAATTATAGCT	0.463000									Langer-Giedion syndrome															0							SO:0001583	missense	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	ENST00000220888.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.65	3.668845	0.67814	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.994;0.997	T	0.63056	-0.6722	10	0.87932	D	0	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	529;525;538	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Y	538;525;529;525	ENSP00000379065:C538Y;ENSP00000220888:C525Y;ENSP00000428680:C529Y;ENSP00000429174:C525Y	ENSP00000220888:C525Y	C	-	2	0	TRPS1	116685758	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.419000	0.80179	2.793000	0.96121	0.591000	0.81541	TGT		TCGA-IB-7651-01A-11D-2154-08	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	1	0	1	132	621	0	142	1	9.670822e-01	11	17	0	142	2		0	0	0	0	0	2	1	1	131	607	0	140	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPS1	7227	broad.mit.edu	37	8	116617112	116617112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116617112C>T	ENST00000220888.5	-	3	1204	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K|TRPS1_ENST00000395715.3_Missense_Mutation_p.E362K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	p.E349K(1)		111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		TGTTCTAATTCGGTGGATGAG	0.408000									Langer-Giedion syndrome															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	ENST00000220888.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427229	0.83667	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.14661	0.345	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61201	0.885;0.771;0.885	T	0.05784	-1.0864	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	353;349;362	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	362;349;303;353;349	ENSP00000379065:E362K;ENSP00000220888:E349K;ENSP00000428910:E303K;ENSP00000428680:E353K;ENSP00000429174:E349K	ENSP00000220888:E349K	E	-	1	0	TRPS1	116686287	1.000000	0.71417	0.999000	0.59377	0.577000	0.36160	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	1	0	1	76	371	0	77	1	9.475889e-01	2	24	0	77	2		0	0	0	0	0	2	1	1	73	364	0	77	2								-3.044058	1	1	120808	2	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FDFT1	2222	broad.mit.edu	37	8	11667339	11667339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11667339G>A	ENST00000220584.4	+	3	583	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M|FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1			12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)		GGATCGCCAGGTGCTGGAGGA	0.507000																								0							SO:0001583	missense			ENST00000220584.4	1	1	hg19	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826881	0.90955	.	.	ENSG00000079459	ENST00000538689;ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;D;T;T;T;T;T	0.82255	-0.99;-0.99;-0.99;-1.59;-0.99;-0.99;-0.99;-0.99;-0.99	4.71	4.71	0.59529	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.91563	0.7335	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.995;0.995	D	0.92624	0.6110	10	0.72032	D	0.01	-34.0136	17.1687	0.86822	0.0:0.0:1.0:0.0	.	121;178;114;121	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	M	10;121;121;121;114;57;57;36;36	ENSP00000444248:V10M;ENSP00000431852:V121M;ENSP00000220584:V121M;ENSP00000390367:V121M;ENSP00000434714:V114M;ENSP00000431749:V57M;ENSP00000432331:V57M;ENSP00000431649:V36M;ENSP00000436069:V36M	ENSP00000220584:V121M	V	+	1	0	FDFT1	11704748	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.302000	0.96175	2.602000	0.87976	0.491000	0.48974	GTG		TCGA-IB-7651-01A-11D-2154-08	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2	1	0	1	38	167	0	39	1	1	283	562	0	39	2		0	0	0	0	0	2	1	1	36	164	0	38	2								-20.000000	1	1	121412	1	23	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FDFT1	2222	broad.mit.edu	37	8	11687884	11687884	+	Silent	SNP	G	G	A	rs150271048	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11687884G>A	ENST00000220584.4	+	6	1056	c.834G>A	c.(832-834)tcG>tcA	p.S278S	FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000538689.1_Silent_p.S167S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000528643.1_Silent_p.S193S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Silent_p.S235S	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1			12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)		CCTACCTTTCGAGACTCAGAA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000220584.4	1	1	hg19	CCDS5985.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2	1	0	1	101	416	0	114	1	1	260	576	0	114	2		0	0	0	0	0	2	1	1	99	407	0	114	2								-3.307013	1	1	121412	7	46	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTSB	1508	broad.mit.edu	37	8	11706619	11706619	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11706619G>A	ENST00000353047.6	-	5	635	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y|CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B			16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)		ACGCTGACGTGCGCATTGGTG	0.647000																								0							SO:0001583	missense			ENST00000353047.6	1	1	hg19	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236222	0.39498	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.54	0.945	0.19543	Peptidase C1A, papain C-terminal (2);	0.753217	0.12991	N	0.422495	T	0.78805	0.4341	N	0.17631	0.505	0.20307	N	0.999912	B	0.02656	0.0	B	0.04013	0.001	T	0.68096	-0.5499	10	0.87932	D	0	.	13.8957	0.63770	0.0:0.0:0.3848:0.6152	.	128	P07858	CATB_HUMAN	Y	128;128;128;128;128;128;128;128;34;128;128;128;128;128;128;128	ENSP00000415889:H128Y;ENSP00000345672:H128Y;ENSP00000435105:H128Y;ENSP00000433215:H128Y;ENSP00000409917:H128Y;ENSP00000342070:H128Y;ENSP00000432244:H128Y;ENSP00000434217:H128Y;ENSP00000436159:H128Y;ENSP00000433995:H128Y;ENSP00000435074:H128Y;ENSP00000436627:H128Y;ENSP00000434725:H128Y;ENSP00000436122:H128Y;ENSP00000431518:H128Y	ENSP00000342070:H128Y	H	-	1	0	CTSB	11744028	0.678000	0.27586	0.000000	0.03702	0.893000	0.52053	1.123000	0.31308	0.206000	0.20587	0.462000	0.41574	CAC		TCGA-IB-7651-01A-11D-2154-08	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	1	0	1	38	160	0	41	1	1	997	6753	0	41	2		0	0	0	0	0	2	1	1	38	159	0	39	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EIF3H	8667	broad.mit.edu	37	8	117668207	117668207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117668207C>T	ENST00000276682.4	-	7	1403	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E199K					eukaryotic translation initiation factor 3, subunit H			13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)				GGCACTTCTTCAAACATGTAC	0.338000																								0							SO:0001583	missense			ENST00000276682.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.600966	0.96614	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995	T;T;T	0.50548	0.75;0.74;0.76	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.86097	2.795	0.80722	D	1	D;D	0.62365	0.991;0.983	P;P	0.53313	0.723;0.723	T	0.70226	-0.4930	10	0.54805	T	0.06	-24.4333	20.8598	0.99761	0.0:1.0:0.0:0.0	.	213;199	B3KS98;O15372	.;EIF3H_HUMAN	K	199;213;167;215	ENSP00000429931:E199K;ENSP00000276682:E213K;ENSP00000428669:E215K	ENSP00000276682:E213K	E	-	1	0	EIF3H	117737388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	1	0	1	39	386	0	112	1	1	186	1233	0	112	2		0	0	0	0	0	2	1	1	38	381	0	110	2								-12.309330	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.770000	1.000000	1.000000	0.967756	0.990000	1	9.000000e-01	1
RAD21	5885	broad.mit.edu	37	8	117862951	117862951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117862951G>A	ENST00000297338.2	-	12	1813	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	RAD21_ENST00000518055.1_Missense_Mutation_p.P54L|RAD21_ENST00000523986.1_Missense_Mutation_p.P13L|RAD21_ENST00000517749.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)			32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)				GATATTTGGAGGTTCTTCTGG	0.383000																								0							SO:0001583	missense			ENST00000297338.2	1	1	hg19	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665099	0.67700	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000518055	T;T;T	0.77358	0.66;-1.09;-0.09	5.36	5.36	0.76844	.	0.205404	0.50627	D	0.000105	T	0.70482	0.3229	L	0.36672	1.1	0.80722	D	1	B	0.27823	0.19	B	0.23018	0.043	T	0.66114	-0.6004	10	0.30078	T	0.28	-26.6076	19.1023	0.93279	0.0:0.0:1.0:0.0	.	509	O60216	RAD21_HUMAN	L	509;13;54	ENSP00000297338:P509L;ENSP00000428513:P13L;ENSP00000428003:P54L	ENSP00000297338:P509L	P	-	2	0	RAD21	117932132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.869000	0.87170	2.481000	0.83766	0.467000	0.42956	CCT		TCGA-IB-7651-01A-11D-2154-08	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	1	85	445	0	98	1	1	115	353	0	98	2		0	0	0	0	0	2	1	1	83	434	0	98	2								-3.226633	1	1	121410	1	27	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD21	5885	broad.mit.edu	37	8	117864872	117864872	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864872A>G	ENST00000297338.2	-	10	1524	c.1237T>C	c.(1237-1239)Ttg>Ctg	p.L413L	RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523986.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)			32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)				AATTCATCCAAATTATCTGCC	0.398000																								0							SO:0001819	synonymous_variant			ENST00000297338.2	1	1	hg19	CCDS6321.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	0	73	396	0	81	1	1	80	239	0	81	2		0	0	0	0	0	2	1	1	73	385	0	80	2								-20.000000	1	0	121408	19	45	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD21	5885	broad.mit.edu	37	8	117864941	117864941	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864941T>C	ENST00000297338.2	-	10	1455	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523986.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)			32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)				AGACAGCGTGTAAAGAGCtat	0.308000																								0							SO:0001583	missense			ENST00000297338.2	1	1	hg19	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099247	0.56183	.	.	ENSG00000164754	ENST00000297338	T	0.65732	-0.17	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	L	0.56396	1.775	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.67795	-0.5578	10	0.08381	T	0.77	0.1095	15.669	0.77258	0.0:0.0:0.0:1.0	.	390	O60216	RAD21_HUMAN	A	390	ENSP00000297338:T390A	ENSP00000297338:T390A	T	-	1	0	RAD21	117934122	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.952000	0.70282	2.092000	0.63282	0.460000	0.39030	ACA		TCGA-IB-7651-01A-11D-2154-08	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	1	72	232	0	51	1	1	93	292	0	51	2		0	0	0	0	0	2	1	1	68	223	0	51	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD21	5885	broad.mit.edu	37	8	117878848	117878848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117878848C>T	ENST00000297338.2	-	2	408	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)			32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)				ATACTCTCCACGCTGCTCTCT	0.388000																								0							SO:0001583	missense			ENST00000297338.2	1	1	hg19	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576225	0.86645	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.83	4.96	0.65561	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81111	-0.1081	10	0.72032	D	0.01	-6.9429	14.7782	0.69746	0.0:0.9308:0.0:0.0692	.	41	O60216	RAD21_HUMAN	M	41	ENSP00000297338:V41M;ENSP00000429342:V41M;ENSP00000427923:V41M;ENSP00000430524:V41M;ENSP00000428158:V41M	ENSP00000297338:V41M	V	-	1	0	RAD21	117948029	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	1.469000	0.48083	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	1	0	1	40	277	0	46	1	1	45	200	0	46	2		0	0	0	0	0	2	1	1	40	275	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999542	0.990000	1	9.900000e-01	1
SLC30A8	169026	broad.mit.edu	37	8	118175760	118175760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118175760C>T	ENST00000456015.2	+	6	820	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC30A8_ENST00000427715.2_Missense_Mutation_p.L225F|SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8			41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)		CTCCATCTTACTCATGGAAGG	0.428000													Ovarian(162;1202 1922 6011 16223 52092)											0							SO:0001583	missense			ENST00000456015.2	1	1	hg19	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016112	0.75161	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.95	4.06	0.47325	.	0.000000	0.64402	D	0.000001	D	0.92378	0.7581	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93116	0.6521	10	0.87932	D	0	-15.5648	11.6831	0.51470	0.0:0.9106:0.0:0.0894	.	274	Q8IWU4	ZNT8_HUMAN	F	225;225;225;274	ENSP00000428545:L225F;ENSP00000407505:L225F;ENSP00000431069:L225F;ENSP00000415011:L274F	ENSP00000407505:L225F	L	+	1	0	SLC30A8	118244941	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	2.015000	0.40961	1.388000	0.46506	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	1	0	0	66	268	0	50	0	9.999759e-01	0	66	0	50	2		0	0	0	0	0	2	1	1	66	258	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXT1	2131	broad.mit.edu	37	8	118812091	118812091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118812091G>A	ENST00000378204.2	-	11	2907	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1			38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)		CAGCTCTGTCGCTGGGCAAAG	0.537000			Mis, N, F, S			exostoses, osteosarcoma			Langer-Giedion syndrome;Hereditary Multiple Exostoses					yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0		GRCh37	CM010236	EXT1	M		SO:0001587	stop_gained	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	ENST00000378204.2	0	1	hg19	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	45	11.435230	0.99560	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.96	5.02	0.67125	.	0.056834	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0602	14.3793	0.66900	0.0:0.0:0.7492:0.2508	.	.	.	.	X	701	.	ENSP00000367446:R701X	R	-	1	2	EXT1	118881272	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.565000	0.53798	2.832000	0.97577	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	1	0	1	52	233	0	51	1	1	42	149	0	51	2		0	0	0	0	0	2	1	1	50	230	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXT1	2131	broad.mit.edu	37	8	119122680	119122680	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122680G>A	ENST00000378204.2	-	1	1412	c.606C>T	c.(604-606)gaC>gaT	p.D202D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1			38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)		CCTCGGTGTAGTCAGGCCAAG	0.458000			Mis, N, F, S			exostoses, osteosarcoma			Langer-Giedion syndrome;Hereditary Multiple Exostoses					yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0							SO:0001819	synonymous_variant	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	ENST00000378204.2	1	1	hg19	CCDS6324.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	1	0	0	121	558	0	122	1	1	20	96	0	122	2		0	0	0	0	0	2	1	1	117	551	0	121	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXT1	2131	broad.mit.edu	37	8	119122901	119122901	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122901C>T	ENST00000378204.2	-	1	1191	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1			38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)		TGGTAACTTTCGGCGATTTTC	0.507000			Mis, N, F, S			exostoses, osteosarcoma			Langer-Giedion syndrome;Hereditary Multiple Exostoses					yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0							SO:0001583	missense	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	ENST00000378204.2	1	1	hg19	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271343	0.59649	.	.	ENSG00000182197	ENST00000378204	D	0.97598	-4.45	5.47	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	L	0.42245	1.32	0.58432	D	0.999999	P	0.40250	0.709	B	0.39840	0.311	D	0.93121	0.6525	10	0.17369	T	0.5	-16.4487	15.7067	0.77588	0.0:0.863:0.137:0.0	.	129	Q16394	EXT1_HUMAN	K	129	ENSP00000367446:E129K	ENSP00000367446:E129K	E	-	1	0	EXT1	119192082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.938000	0.70170	2.558000	0.86282	0.462000	0.41574	GAA		TCGA-IB-7651-01A-11D-2154-08	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	1	0	1	111	413	0	93	1	1	27	109	0	93	2		0	0	0	0	0	2	1	1	109	407	0	93	2								-3.700229	1	1	121412	1	31	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFRSF11B	4982	broad.mit.edu	37	8	119936933	119936933	+	Missense_Mutation	SNP	G	G	A	rs145316984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119936933G>A	ENST00000297350.4	-	5	1264	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b			25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)		ATCAAGCTACGAAGCTGCTCG	0.463000																								0							SO:0001583	missense			ENST00000297350.4	1	1	hg19	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831937	0.32421	0.0	1.16E-4	ENSG00000164761	ENST00000297350	D	0.87179	-2.22	5.74	3.91	0.45181	Death (1);	1.391200	0.03735	N	0.254055	D	0.85444	0.5698	L	0.43152	1.355	0.09310	N	1	D	0.55172	0.97	P	0.47206	0.541	T	0.70691	-0.4802	9	.	.	.	-1.5943	4.7775	0.13187	0.0732:0.1069:0.4216:0.3984	.	296	O00300	TR11B_HUMAN	C	296	ENSP00000297350:R296C	.	R	-	1	0	TNFRSF11B	120006114	0.009000	0.17119	0.003000	0.11579	0.624000	0.37722	1.152000	0.31663	0.840000	0.34995	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1	1	0	1	72	250	0	61	0	9.319727e-01	0	18	0	61	2		0	0	0	0	0	2	1	1	68	243	0	61	2								-20.000000	1	1	121412	2	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP17L2	377630	broad.mit.edu	37	8	11994753	11994753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994753G>A	ENST00000333796.3	-	1	1833	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2			29					TTGCAGAGAAGCGAGGGTGCC	0.542000																								0							SO:0001583	missense			ENST00000333796.3	1	1	hg19	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	1.052	-0.675426	0.03378	.	.	ENSG00000223443	ENST00000333796	T	0.12147	2.71	0.418	0.418	0.16429	.	3.924260	0.01239	U	0.008577	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.28332	-1.0047	9	0.40728	T	0.16	.	.	.	.	.	506	Q6R6M4	U17L2_HUMAN	V	506	ENSP00000333329:A506V	ENSP00000333329:A506V	A	-	2	0	USP17L2	12032162	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	0.527000	0.22987	0.476000	0.27440	0.479000	0.44913	GCT		TCGA-IB-7651-01A-11D-2154-08	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	1	0	1	66	455	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	66	439	0	102	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
USP17L2	377630	broad.mit.edu	37	8	11994754	11994754	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994754C>T	ENST00000333796.3	-	1	1832	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2			29					TGCAGAGAAGCGAGGGTGCCA	0.547000																								0							SO:0001583	missense			ENST00000333796.3	1	1	hg19	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.324057	0.01309	.	.	ENSG00000223443	ENST00000333796	T	0.11930	2.73	0.418	-0.836	0.10770	.	3.924260	0.01239	U	0.008577	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24548	-1.0157	9	0.24483	T	0.36	.	.	.	.	.	506	Q6R6M4	U17L2_HUMAN	T	506	ENSP00000333329:A506T	ENSP00000333329:A506T	A	-	1	0	USP17L2	12032163	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-1.537000	0.02206	-2.082000	0.00868	-2.139000	0.00339	GCT		TCGA-IB-7651-01A-11D-2154-08	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	0	0	0	20	500	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	9.999939e-01	20	485	0	101	2								-3.680389	1	1	111422	3	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.450000	0.280000	0.660000	0.440000	0.462947	0.450000	0	3.500000e-01	5.600000e-01
USP17L2	377630	broad.mit.edu	37	8	11995139	11995139	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995139T>A	ENST00000333796.3	-	1	1447	c.1131A>T	c.(1129-1131)gaA>gaT	p.E377D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2			29					GTCTTTCCCATTCACTCTTCT	0.517000																								0							SO:0001583	missense			ENST00000333796.3	0	1	hg19	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.898574	0.00517	.	.	ENSG00000223443	ENST00000333796	T	0.41758	0.99	0.771	-0.576	0.11731	Hyaluronan/mRNA-binding protein (1);	1.202600	0.06564	N	0.747271	T	0.16557	0.0398	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.23226	-1.0194	10	0.02654	T	1	.	4.0396	0.09745	0.0:0.2652:0.0:0.7348	.	377	Q6R6M4	U17L2_HUMAN	D	377	ENSP00000333329:E377D	ENSP00000333329:E377D	E	-	3	2	USP17L2	12032548	0.522000	0.26266	0.016000	0.15963	0.079000	0.17450	1.039000	0.30266	-0.150000	0.11195	0.240000	0.17902	GAA		TCGA-IB-7651-01A-11D-2154-08	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	0	0	0	45	314	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1	20	161	0	104	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999688	0.990000	1	9.900000e-01	1
USP17L2	377630	broad.mit.edu	37	8	11995503	11995503	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995503A>G	ENST00000333796.3	-	1	1083	c.767T>C	c.(766-768)cTt>cCt	p.L256P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2			29					CTGGAGACAAAGACCGCAATG	0.512000																								0							SO:0001583	missense			ENST00000333796.3	1	1	hg19	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	0.881	-0.728608	0.03135	.	.	ENSG00000223443	ENST00000333796	T	0.05447	3.44	0.745	-1.49	0.08718	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	3.392720	0.01228	N	0.008280	T	0.04770	0.0129	N	0.17082	0.46	0.09310	N	0.999999	B	0.14438	0.01	B	0.20184	0.028	T	0.37979	-0.9682	10	0.49607	T	0.09	.	2.5944	0.04850	0.2721:0.3019:0.426:0.0	.	256	Q6R6M4	U17L2_HUMAN	P	256	ENSP00000333329:L256P	ENSP00000333329:L256P	L	-	2	0	USP17L2	12032912	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.357000	0.07651	-1.429000	0.01987	-1.661000	0.00750	CTT		TCGA-IB-7651-01A-11D-2154-08	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	0	0	0	43	419	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	9.996352e-01	15	101	0	146	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.790000	1.000000	1.000000	0.974053	0.990000	1	9.200000e-01	1
USP17L2	377630	broad.mit.edu	37	8	11995994	11995994	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995994G>A	ENST00000333796.3	-	1	592	c.276C>T	c.(274-276)aaC>aaT	p.N92N	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2			29					GCAGGGAAGCGTTCTCGTAGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000333796.3	0	1	hg19	CCDS43713.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	0	0	0	37	694	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	9.999873e-01	14	299	0	170	2								-6.230448	1	1	110696	19	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.580000	0.420000	0.780000	0.580000	0.598318	0.580000	0	4.900000e-01	6.900000e-01
MAL2	114569	broad.mit.edu	37	8	120233931	120233931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120233931G>A	ENST00000276681.6	+	3	339	c.237G>A	c.(235-237)tcG>tcA	p.S79S	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)				all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)		TTTTCTTTTCGCTCCTCTTTC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000276681.6	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	128	721	0	117	1	1	127	167	0	117	2		0	0	0	0	0	2	1	1	125	707	0	116	2								-7.142564	1	1	120934	5	43	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOV	4856	broad.mit.edu	37	8	120430352	120430352	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430352A>C	ENST00000259526.3	+	3	592	c.365A>C	c.(364-366)aAa>aCa	p.K122T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed			21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		AGTGGAGAGAAATTTCAGCCA	0.512000																								0							SO:0001583	missense			ENST00000259526.3	1	1	hg19	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123628	0.37436	.	.	ENSG00000136999	ENST00000259526	T	0.70869	-0.52	5.51	3.56	0.40772	von Willebrand factor, type C (3);	0.174753	0.53938	N	0.000059	T	0.32194	0.0821	N	0.00329	-1.635	0.35092	D	0.764375	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	10	0.19590	T	0.45	-5.5229	9.4965	0.38991	0.2304:0.66:0.1096:0.0	.	122	P48745	NOV_HUMAN	T	122	ENSP00000259526:K122T	ENSP00000259526:K122T	K	+	2	0	NOV	120499533	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	2.747000	0.47475	0.740000	0.32651	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	1	0	1	34	275	0	62	0	9.267981e-01	0	38	0	62	2		0	0	0	0	0	2	1	1	33	272	0	62	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.900000	1.000000	1.000000	0.994568	0.990000	1	9.900000e-01	1
NOV	4856	broad.mit.edu	37	8	120435115	120435115	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120435115G>A	ENST00000259526.3	+	5	1044	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed			21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		GTCACTCAAAGCCATCCACCT	0.488000																								0							SO:0001583	missense			ENST00000259526.3	1	1	hg19	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322686	0.60634	.	.	ENSG00000136999	ENST00000259526	D	0.89343	-2.5	5.91	4.06	0.47325	Cystine knot (1);Cystine knot, C-terminal (2);	0.159685	0.56097	D	0.000033	D	0.91297	0.7256	M	0.78637	2.42	0.38106	D	0.937413	P	0.46859	0.885	P	0.51324	0.666	D	0.91883	0.5517	10	0.87932	D	0	-21.4507	10.9553	0.47354	0.0:0.1261:0.6124:0.2615	.	273	P48745	NOV_HUMAN	T	273	ENSP00000259526:A273T	ENSP00000259526:A273T	A	+	1	0	NOV	120504296	0.815000	0.29118	0.982000	0.44146	0.382000	0.30200	0.780000	0.26760	0.770000	0.33336	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	1	0	1	95	490	0	107	0	9.985460e-01	0	52	0	107	2		0	0	0	0	0	2	1	1	93	472	0	103	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPP2	5168	broad.mit.edu	37	8	120569929	120569929	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120569929G>T	ENST00000075322.6	-	25	2482	c.2424C>A	c.(2422-2424)agC>agA	p.S808R	ENPP2_ENST00000522167.1_Missense_Mutation_p.S443R|ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R|ENPP2_ENST00000427067.2_Missense_Mutation_p.S829R|ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2			69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		CGTCCTCTGAGCTCTGCAATG	0.443000													Melanoma(20;305 879 2501 4818 31020)											0							SO:0001583	missense			ENST00000075322.6	1	1	hg19	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909460	0.33721	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.75367	-0.72;-0.71;-0.93;-0.71;-0.71	5.91	3.15	0.36227	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.077468	0.52532	D	0.000070	T	0.80341	0.4605	M	0.68952	2.095	0.48696	D	0.99969	P;P;D;P;D	0.58970	0.806;0.848;0.983;0.71;0.984	P;P;P;B;P	0.61132	0.776;0.583;0.729;0.35;0.884	T	0.76906	-0.2786	10	0.40728	T	0.16	.	9.5939	0.39563	0.2684:0.0:0.7316:0.0	.	346;833;808;860;443	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	R	860;829;443;833;808	ENSP00000259486:S860R;ENSP00000403315:S829R;ENSP00000429476:S443R;ENSP00000428291:S833R;ENSP00000075322:S808R	ENSP00000075322:S808R	S	-	3	2	ENPP2	120639110	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	1.137000	0.31479	0.402000	0.25451	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1	1	0	1	84	417	0	82	0	1	1	318	0	82	2		0	0	0	0	0	2	1	1	82	411	0	82	2								-20.000000	1	1	121280	14	43	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENPP2	5168	broad.mit.edu	37	8	120575129	120575129	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120575129G>A	ENST00000075322.6	-	24	2447	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	ENPP2_ENST00000522167.1_Missense_Mutation_p.P432S|ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S|ENPP2_ENST00000427067.2_Missense_Mutation_p.P818S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2			69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		GGCCGGTGAGGCAGGATGAAG	0.483000													Melanoma(20;305 879 2501 4818 31020)											0							SO:0001583	missense			ENST00000075322.6	1	1	hg19	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592355	0.86953	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.8	4.93	0.64822	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.997;1.0	D;D;D;D;D	0.78314	0.991;0.965;0.982;0.967;0.99	T	0.73852	-0.3852	10	0.87932	D	0	.	14.6138	0.68534	0.0694:0.0:0.9306:0.0	.	335;822;797;849;432	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	S	849;818;432;822;797	ENSP00000259486:P849S;ENSP00000403315:P818S;ENSP00000429476:P432S;ENSP00000428291:P822S;ENSP00000075322:P797S	ENSP00000075322:P797S	P	-	1	0	ENPP2	120644310	1.000000	0.71417	0.932000	0.37286	0.906000	0.53458	9.750000	0.98875	1.451000	0.47736	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1	1	0	1	47	236	0	60	0	1	0	357	0	60	2		0	0	0	0	0	2	1	1	46	233	0	60	2								-19.999980	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ENPP2	5168	broad.mit.edu	37	8	120581568	120581568	+	Missense_Mutation	SNP	G	G	A	rs138793770		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120581568G>A	ENST00000075322.6	-	21	2018	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	ENPP2_ENST00000522167.1_Missense_Mutation_p.R289W|ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W|ENPP2_ENST00000427067.2_Missense_Mutation_p.R675W|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2			69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		ACATCAGGCCGGACGCAACTG	0.512000													Melanoma(20;305 879 2501 4818 31020)											0							SO:0001583	missense			ENST00000075322.6	1	1	hg19	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560122	0.65538	0.0	1.16E-4	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.36	4.47	0.54385	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;1.0;1.0;1.0;1.0	D	0.85082	0.0946	10	0.87932	D	0	.	13.9544	0.64137	0.0:0.0:0.7101:0.2899	.	192;679;654;706;289	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	W	706;675;289;679;654	ENSP00000259486:R706W;ENSP00000403315:R675W;ENSP00000429476:R289W;ENSP00000428291:R679W;ENSP00000075322:R654W	ENSP00000075322:R654W	R	-	1	2	ENPP2	120650749	0.962000	0.33011	0.986000	0.45419	0.653000	0.38743	1.304000	0.33482	1.221000	0.43506	0.650000	0.86243	CGG		TCGA-IB-7651-01A-11D-2154-08	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1	1	0	0	64	326	0	76	0	1	1	270	0	76	2		0	0	0	0	0	2	1	1	65	325	0	76	2								-2.938215	1	1	121412	19	44	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF2	6873	broad.mit.edu	37	8	120795700	120795700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120795700C>T	ENST00000378164.2	-	16	2331	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa			49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		GAGTGCAAGCCGAGATGCTGG	0.418000																								0							SO:0001583	missense			ENST00000378164.2	1	1	hg19	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423498	0.96111	.	.	ENSG00000064313	ENST00000378164	T	0.50277	0.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.42245	1.32	0.80722	D	1	D	0.64830	0.994	P	0.50659	0.647	T	0.45498	-0.9257	10	0.40728	T	0.16	-38.7402	20.6593	0.99626	0.0:1.0:0.0:0.0	.	678	Q6P1X5	TAF2_HUMAN	Q	678	ENSP00000367406:R678Q	ENSP00000367406:R678Q	R	-	2	0	TAF2	120864881	1.000000	0.71417	0.834000	0.33040	0.980000	0.70556	7.789000	0.85783	2.885000	0.99019	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	1	0	1	104	438	0	106	1	9.999394e-01	14	47	0	106	2		0	0	0	0	0	2	1	1	102	431	0	104	2								-3.017670	1	1	121412	1	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF2	6873	broad.mit.edu	37	8	120803660	120803660	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120803660A>G	ENST00000378164.2	-	11	1615	c.1317T>C	c.(1315-1317)caT>caC	p.H439H		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa			49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		AGGACAGTGTATGTGGATGCT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000378164.2	1	1	hg19	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	A	6.538	0.467601	0.12402	.	.	ENSG00000064313	ENST00000523904	.	.	.	4.79	-1.66	0.08265	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55642	-0.8109	4	.	.	.	-28.6868	11.6465	0.51263	0.4583:0.0:0.5417:0.0	.	.	.	.	T	132	.	.	I	-	2	0	TAF2	120872841	1.000000	0.71417	0.878000	0.34440	0.747000	0.42532	1.180000	0.32005	-0.229000	0.09854	-0.456000	0.05471	ATA		TCGA-IB-7651-01A-11D-2154-08	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	1	0	0	44	191	0	46	1	9.998492e-01	16	45	0	46	2		0	0	0	0	0	2	1	1	43	187	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSCC1	79075	broad.mit.edu	37	8	120855907	120855907	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855907A>G	ENST00000313655.4	-	5	872	c.658T>C	c.(658-660)Tct>Cct	p.S220P		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1			9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		TTACCAAAAGACCATGATTCA	0.358000																								0							SO:0001583	missense			ENST00000313655.4	1	1	hg19	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	A	6.220	0.408665	0.11812	.	.	ENSG00000136982	ENST00000313655	T	0.47177	0.85	5.29	1.58	0.23477	.	0.149499	0.64402	D	0.000007	T	0.28499	0.0705	L	0.29908	0.895	0.49687	D	0.999818	B	0.17465	0.022	B	0.20955	0.032	T	0.04440	-1.0951	10	0.21540	T	0.41	-8.5604	4.4856	0.11788	0.5833:0.1665:0.2502:0.0	.	220	Q9BVC3	DCC1_HUMAN	P	220	ENSP00000322180:S220P	ENSP00000322180:S220P	S	-	1	0	DSCC1	120925088	0.999000	0.42202	0.993000	0.49108	0.387000	0.30353	0.837000	0.27558	0.405000	0.25532	-0.321000	0.08615	TCT		TCGA-IB-7651-01A-11D-2154-08	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	1	0	1	152	769	0	205	1	7.350681e-01	5	10	0	205	2		0	0	0	0	0	2	1	1	150	758	0	205	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DSCC1	79075	broad.mit.edu	37	8	120855987	120855987	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855987C>A	ENST00000313655.4	-	5	792	c.578G>T	c.(577-579)gGt>gTt	p.G193V		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1			9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		CCTCCAATAACCTACAAATTT	0.363000																								0							SO:0001630	splice_region_variant			ENST00000313655.4	1	0	hg19	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312999	0.81358	.	.	ENSG00000136982	ENST00000313655	T	0.67865	-0.29	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87853	0.2659	10	0.87932	D	0	.	19.3011	0.94144	0.0:1.0:0.0:0.0	.	193	Q9BVC3	DCC1_HUMAN	V	193	ENSP00000322180:G193V	ENSP00000322180:G193V	G	-	2	0	DSCC1	120925168	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.560000	0.82277	2.642000	0.89623	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	1	0	0	98	493	0	116	0	6.615900e-01	0	13	0	116	2		0	0	0	0	0	2	1	1	95	476	0	116	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL14A1	7373	broad.mit.edu	37	8	121262977	121262977	+	Silent	SNP	C	C	T	rs113536778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121262977C>T	ENST00000297848.3	+	22	2994	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	COL14A1_ENST00000247781.3_Silent_p.S813S|COL14A1_ENST00000309791.4_Silent_p.S908S|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1			119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		CAGGCTTCAGCGACGCCCTGA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000297848.3	1	1	hg19	CCDS34938.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	1	0	1	45	197	0	46	0	1	0	151	0	46	2		0	0	0	0	0	2	1	1	43	193	0	46	2								-3.239361	1	1	121412	3	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL13	28998	broad.mit.edu	37	8	121426282	121426282	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121426282G>A	ENST00000306185.3	-	6	754	c.463C>T	c.(463-465)Cta>Tta	p.L155L		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13			6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)		TACTCATCTAGACGTTTAGGT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000306185.3	1	1	hg19	CCDS6332.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	1	0	1	75	306	0	85	1	1	79	178	0	85	2		0	0	0	0	0	2	1	1	74	303	0	85	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNTB1	6641	broad.mit.edu	37	8	121706136	121706136	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121706136C>T	ENST00000395601.3	-	3	998	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	p.R195L(1)|p.R195P(1)		24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)		CGTGGCTTCTCGCATGTACTT	0.483000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000395601.3	1	1	hg19	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262029	0.95368	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.58652	0.32;0.32	5.44	5.44	0.79542	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.85130	0.581;0.997	T	0.71230	-0.4654	10	0.49607	T	0.09	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	195;195	Q13884;Q13884-2	SNTB1_HUMAN;.	Q	195	ENSP00000378965:R195Q;ENSP00000431124:R195Q	ENSP00000378965:R195Q	R	-	2	0	SNTB1	121775317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.814000	0.96858	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	1	0	1	71	323	0	63	1	9.999878e-01	15	62	0	63	2		0	0	0	0	0	2	1	1	71	315	0	63	2								-2.724621	1	1	121412	1	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAS2	3037	broad.mit.edu	37	8	122626390	122626390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626390G>A	ENST00000303924.4	-	4	2155	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2		HAS2/PLAG1(10)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)		CCCTTCTTCCGCCTGCCACAC	0.433000																								0							SO:0001583	missense			ENST00000303924.4	1	0	hg19	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989827	0.54041	.	.	ENSG00000170961	ENST00000303924	T	0.51325	0.71	6.17	3.35	0.38373	.	0.045429	0.85682	N	0.000000	T	0.61776	0.2374	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.62091	-0.6927	10	0.87932	D	0	-18.9349	10.3443	0.43897	0.0625:0.0:0.6839:0.2536	.	540	Q92819	HAS2_HUMAN	W	540	ENSP00000306991:R540W	ENSP00000306991:R540W	R	-	1	2	HAS2	122695571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.374000	0.52402	0.435000	0.26365	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	1	0	1	124	561	0	137	1	9.234088e-01	8	11	0	137	2		0	0	0	0	0	2	1	1	119	549	0	133	2								-0.912427	0	1	121400	73	49	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HAS2	3037	broad.mit.edu	37	8	122626577	122626577	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626577T>C	ENST00000303924.4	-	4	1968	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2		HAS2/PLAG1(10)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)		CTGGAATGAGTCCTATGAAAT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000303924.4	1	1	hg19	CCDS6335.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	0	0	1	73	660	0	133	0	6.834112e-01	1	22	0	133	2		0	0	0	0	0	2	1	1	73	650	0	131	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.910000	1.000000	1.000000	0.994698	0.990000	1	9.900000e-01	1
HAS2	3037	broad.mit.edu	37	8	122641042	122641042	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122641042C>A	ENST00000303924.4	-	2	1076	c.539G>T	c.(538-540)aGt>aTt	p.S180I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2		HAS2/PLAG1(10)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)		GATGCAGATACTTTTGTTGGA	0.458000																								0							SO:0001583	missense			ENST00000303924.4	1	1	hg19	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670841	0.29693	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.44083	0.93	5.87	5.0	0.66597	.	0.113441	0.85682	D	0.000000	T	0.27866	0.0686	N	0.22421	0.69	0.42532	D	0.993049	B	0.19583	0.037	B	0.17098	0.017	T	0.08722	-1.0708	10	0.21014	T	0.42	-12.8627	11.184	0.48644	0.0:0.8605:0.0:0.1395	.	180	Q92819	HAS2_HUMAN	I	180	ENSP00000306991:S180I	ENSP00000306991:S180I	S	-	2	0	HAS2	122710223	1.000000	0.71417	0.944000	0.38274	0.883000	0.51084	3.928000	0.56506	1.631000	0.50456	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	0	0	1	253	1115	0	219	1	9.200765e-01	5	16	0	219	2		0	0	0	0	0	2	1	1	251	1097	0	218	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZHX2	22882	broad.mit.edu	37	8	123963770	123963770	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123963770C>T	ENST00000314393.4	+	3	855	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2			45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)		AAACGAAAATCTACAACTCCA	0.493000													Esophageal Squamous(94;1056 1388 11767 13799 49639)											0							SO:0001583	missense			ENST00000314393.4	1	1	hg19	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297762	0.95574	.	.	ENSG00000178764	ENST00000314393	T	0.33654	1.4	5.86	5.86	0.93980	.	0.056836	0.64402	D	0.000001	T	0.65760	0.2722	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68025	-0.5518	10	0.87932	D	0	-11.8845	20.1829	0.98210	0.0:1.0:0.0:0.0	.	7	Q9Y6X8	ZHX2_HUMAN	F	7	ENSP00000314709:S7F	ENSP00000314709:S7F	S	+	2	0	ZHX2	124032951	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.247000	0.78257	2.767000	0.95098	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	0	0	1	18	85	0	27	1	9.939741e-01	3	40	0	27	2		0	0	0	0	0	2	1	9.999894e-01	18	84	0	27	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999573	0.990000	1	9.900000e-01	1
ZHX2	22882	broad.mit.edu	37	8	123965081	123965081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965081G>A	ENST00000314393.4	+	3	2166	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2			45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)		GCCAGTGACCGCAAGAAGACA	0.617000													Esophageal Squamous(94;1056 1388 11767 13799 49639)											0							SO:0001583	missense			ENST00000314393.4	1	1	hg19	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456528	0.63401	.	.	ENSG00000178764	ENST00000314393	D	0.91792	-2.91	5.85	5.85	0.93711	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.227219	0.45606	D	0.000350	D	0.93858	0.8035	L	0.40543	1.245	0.52099	D	0.999942	D	0.89917	1.0	D	0.73380	0.98	D	0.90635	0.4570	10	0.16896	T	0.51	-19.237	20.1559	0.98114	0.0:0.0:1.0:0.0	.	444	Q9Y6X8	ZHX2_HUMAN	H	444	ENSP00000314709:R444H	ENSP00000314709:R444H	R	+	2	0	ZHX2	124034262	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.241000	0.78201	2.779000	0.95612	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	1	0	1	41	189	0	64	1	9.999396e-01	6	65	0	64	2		0	0	0	0	0	2	1	1	41	185	0	64	2								-3.330745	1	1	121412	2	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZHX2	22882	broad.mit.edu	37	8	123965964	123965964	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965964C>T	ENST00000314393.4	+	3	3049	c.2214C>T	c.(2212-2214)tgC>tgT	p.C738C		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2			45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)		AAAAGCTCTGCGAAGAGGACT	0.532000													Esophageal Squamous(94;1056 1388 11767 13799 49639)											0							SO:0001819	synonymous_variant			ENST00000314393.4	1	1	hg19	CCDS6336.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	1	0	1	106	488	0	128	0	9.999733e-01	1	70	0	128	2		0	0	0	0	0	2	1	1	106	480	0	126	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DERL1	79139	broad.mit.edu	37	8	124054334	124054334	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124054334C>T	ENST00000259512.4	-	1	329	c.29G>A	c.(28-30)aGc>aAc	p.S10N	DERL1_ENST00000405944.3_Missense_Mutation_p.S10N|DERL1_ENST00000419562.2_Missense_Mutation_p.S10N|RNY4P5_ENST00000362808.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1			8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)		CGCCGGGATGCTCCTGAACCA	0.667000																								0							SO:0001583	missense			ENST00000259512.4	1	1	hg19	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439631	0.43326	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562	T;T;T	0.34072	2.83;1.63;1.38	5.79	5.79	0.91817	.	0.114972	0.85682	D	0.000000	T	0.30135	0.0755	N	0.26042	0.785	0.80722	D	1	B;B;B	0.14012	0.003;0.009;0.003	B;B;B	0.15052	0.002;0.012;0.008	T	0.04900	-1.0919	10	0.22706	T	0.39	.	20.039	0.97573	0.0:1.0:0.0:0.0	.	10;10;10	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	N	10	ENSP00000259512:S10N;ENSP00000384289:S10N;ENSP00000389965:S10N	ENSP00000259512:S10N	S	-	2	0	DERL1	124123515	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.261000	0.65496	2.743000	0.94032	0.453000	0.30009	AGC		TCGA-IB-7651-01A-11D-2154-08	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	1	0	1	32	129	0	17	1	1	46	162	0	17	2		0	0	0	0	0	2	1	1	32	129	0	17	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FAM83A	84985	broad.mit.edu	37	8	124219674	124219674	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124219674G>A	ENST00000518448.1	+	5	3065	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A			17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)		AAGTGTGTCCGCGTCTTCAGG	0.731000																								0							SO:0001583	missense			ENST00000518448.1	1	1	hg19	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497489	0.04291	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.07908	3.15;3.15	4.16	-5.41	0.02648	.	2.848170	0.01218	N	0.008039	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37596	-0.9699	10	0.12430	T	0.62	0.1336	10.3161	0.43738	0.7465:0.0:0.1438:0.1097	.	351	Q86UY5	FA83A_HUMAN	T	351	ENSP00000428876:A351T;ENSP00000323034:A351T	ENSP00000323034:A351T	A	+	1	0	FAM83A	124288855	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.596000	0.05720	-1.745000	0.01337	-0.436000	0.05848	GCG		TCGA-IB-7651-01A-11D-2154-08	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	1	0	0	32	139	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	1	32	137	0	20	2								-20.000000	1	1	119638	1	28	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
KLHL38	340359	broad.mit.edu	37	8	124664939	124664939	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124664939C>T	ENST00000325995.7	-	1	251	c.228G>A	c.(226-228)caG>caA	p.Q76Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38			38					TGCCTTTCAGCTGCACTTTGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000325995.7	1	1	hg19	CCDS43766.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1	0	0	0	11	321	0	54	0	1.870314e-02	0	6	0	54	2		0	0	0	0	0	2	1	9.984307e-01	11	322	0	52	2								-11.587650	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.390000	0.200000	0.640000	0.380000	0.411066	0.390000	0	2.900000e-01	5.200000e-01
FAM91A1	157769	broad.mit.edu	37	8	124787488	124787488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124787488G>A	ENST00000334705.7	+	3	505	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1			28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)		GGATATTATGGTGAAAGGCTT	0.423000																								0							SO:0001583	missense			ENST00000334705.7	1	1	hg19	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593471	0.86953	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.53206	0.63;1.21	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000001	T	0.72137	0.3423	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.75958	-0.3134	10	0.72032	D	0.01	.	19.0221	0.92919	0.0:0.0:1.0:0.0	.	87;87	E7ER68;Q658Y4	.;F91A1_HUMAN	M	87	ENSP00000429491:V87M;ENSP00000335082:V87M	ENSP00000335082:V87M	V	+	1	0	FAM91A1	124856669	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	9.655000	0.98512	2.495000	0.84180	0.655000	0.94253	GTG		TCGA-IB-7651-01A-11D-2154-08	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	1	0	1	45	277	0	74	1	9.995283e-01	20	53	0	74	2		0	0	0	0	0	2	1	1	44	270	0	74	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999963	0.990000	1	9.900000e-01	1
FAM91A1	157769	broad.mit.edu	37	8	124792281	124792281	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124792281A>C	ENST00000334705.7	+	7	852	c.606A>C	c.(604-606)caA>caC	p.Q202H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1			28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)		CAGGCCCTCAACTCTCTGGAT	0.318000																								0							SO:0001583	missense			ENST00000334705.7	1	1	hg19	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265700	0.80358	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.47869	0.83;1.41	5.51	-7.82	0.01205	.	0.000000	0.85682	U	0.000000	T	0.62122	0.2402	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.64830	0.994;0.994	D;D	0.78314	0.991;0.991	T	0.74250	-0.3726	10	0.59425	D	0.04	.	17.649	0.88157	0.6315:0.0:0.3685:0.0	.	202;202	E7ER68;Q658Y4	.;F91A1_HUMAN	H	202	ENSP00000429491:Q202H;ENSP00000335082:Q202H	ENSP00000335082:Q202H	Q	+	3	2	FAM91A1	124861462	0.993000	0.37304	0.698000	0.30274	0.994000	0.84299	0.228000	0.17814	-1.609000	0.01585	-0.396000	0.06452	CAA		TCGA-IB-7651-01A-11D-2154-08	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	1	0	1	62	232	0	44	1	1	22	79	0	44	2		0	0	0	0	0	2	1	1	59	230	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FER1L6	654463	broad.mit.edu	37	8	124992756	124992756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124992756G>A	ENST00000522917.1	+	11	1321	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K	FER1L6_ENST00000399018.1_Missense_Mutation_p.R372K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6			118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)		GGCTCGCCCAGGAACCACAGT	0.468000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000522917.1	1	1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099226	0.94197	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82803	-1.65;-1.65	5.53	5.53	0.82687	C2 calcium/lipid-binding domain, CaLB (1);	0.073530	0.52532	U	0.000064	D	0.90369	0.6986	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88672	0.3196	10	0.36615	T	0.2	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	372	Q2WGJ9	FR1L6_HUMAN	K	372	ENSP00000428280:R372K;ENSP00000381982:R372K	ENSP00000381982:R372K	R	+	2	0	FER1L6	125061937	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.813000	0.99286	2.607000	0.88179	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	0	0	0	29	590	1	119		0	0	0	1	119	2		0	0	0	0	0	2	1	9.526773e-01	29	570	1	118	18								-3.012495	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.540000	0.370000	0.750000	0.540000	0.556821	0.540000	0	4.500000e-01	6.500000e-01
FER1L6	654463	broad.mit.edu	37	8	125047562	125047562	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125047562C>T	ENST00000522917.1	+	19	2537	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	p.V777V(1)		118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)		AAGCAAAAGTCGACGTGTACC	0.498000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000522917.1	1	1	hg19	CCDS43767.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	1	0	0	28	410	0	88	0	0	0	1	0	88	2		0	0	0	0	0	2	1	1	28	399	0	88	2								-7.002183	1	1	120900	16	42	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.740000	0.500000	1.000000	1.000000	0.753939	0.740000	0	6.100000e-01	8.900000e-01
FER1L6	654463	broad.mit.edu	37	8	125072466	125072466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125072466G>A	ENST00000522917.1	+	23	3126	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D974N|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6			118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)		TGAGCCACCAGACATCACCCA	0.572000																								0							SO:0001583	missense			ENST00000522917.1	0	1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537410	0.65085	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82433	-1.61;-1.61	5.65	4.78	0.61160	.	0.062856	0.64402	U	0.000008	D	0.87752	0.6256	M	0.67700	2.07	0.51767	D	0.999935	D	0.65815	0.995	P	0.60949	0.881	D	0.85856	0.1407	10	0.26408	T	0.33	-7.5478	14.0915	0.64993	0.0731:0.0:0.9269:0.0	.	974	Q2WGJ9	FR1L6_HUMAN	N	974	ENSP00000428280:D974N;ENSP00000381982:D974N	ENSP00000381982:D974N	D	+	1	0	FER1L6	125141647	1.000000	0.71417	0.150000	0.22450	0.175000	0.22909	5.110000	0.64622	1.402000	0.46780	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	0	0	0	10	547	0	116	0	4.216714e-04	0	2	0	116	2		0	0	0	0	0	2	1	9.965997e-01	9	537	0	115	2								-3.245456	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.210000	0.100000	0.360000	0.210000	0.226599	0.210000	0	1.500000e-01	2.900000e-01
FER1L6	654463	broad.mit.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6			118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)		CCCCTCAGCCGCCCAGACACC	0.473000																								0							SO:0001583	missense			ENST00000522917.1	1	1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521546	0.96416	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86562	-2.14;-2.14	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	D	0.95576	0.8562	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95455	0.8538	10	0.87932	D	0	-21.24	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1798	Q2WGJ9	FR1L6_HUMAN	H	1798	ENSP00000428280:R1798H;ENSP00000381982:R1798H	ENSP00000381982:R1798H	R	+	2	0	FER1L6	125201031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	1	0	1	59	520	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1	58	495	0	112	2								-3.221883	1	1	120868	4	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.910000	1.000000	1.000000	0.994659	0.990000	1	9.900000e-01	1
NDUFB9	4715	broad.mit.edu	37	8	125555516	125555516	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125555516A>G	ENST00000276689.3	+	2	374	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	NDUFB9_ENST00000522532.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C|NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa			8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		TACGATTGCTACAAGGTAGGT	0.493000																								0							SO:0001583	missense			ENST00000276689.3	1	1	hg19	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981916	0.74474	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.83673	-0.71;-1.75;-1.75;-0.69	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	M	0.73962	2.25	0.80722	D	1	B;D	0.89917	0.178;1.0	B;D	0.66979	0.076;0.948	D	0.90846	0.4727	10	0.56958	D	0.05	-18.4647	15.5444	0.76086	1.0:0.0:0.0:0.0	.	97;97	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	C	97;97;97;86	ENSP00000276689:Y97C;ENSP00000428282:Y97C;ENSP00000431115:Y97C;ENSP00000430322:Y86C	ENSP00000276689:Y97C	Y	+	2	0	NDUFB9	125624697	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.852000	0.92215	2.070000	0.61991	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	1	0	0	13	247	0	43	1	1	96	1203	0	43	2		0	0	0	0	0	2	1	9.994996e-01	13	241	0	43	2								-15.460570	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.580000	0.330000	0.920000	0.570000	0.607566	0.580000	0	4.400000e-01	7.600000e-01
MTSS1	9788	broad.mit.edu	37	8	125575120	125575120	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125575120C>A	ENST00000518547.1	-	10	1411	c.938G>T	c.(937-939)aGg>aTg	p.R313M	MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M|MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M|MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000431961.2_Missense_Mutation_p.R113M|NDUFB9_ENST00000522532.1_Intron	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1			37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		GCTGGACAGCCTCACAGGAGC	0.622000													Esophageal Squamous(160;622 1893 3862 8546 12509)											0							SO:0001583	missense			ENST00000518547.1	1	1	hg19	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.426790|4.426790	0.83667|0.83667	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000519168;ENST00000523179|ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	.|T;T;T;T;T;T;T;T	.|0.62788	.|1.15;1.01;1.1;0.0;1.03;1.1;0.84;0.33	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81074|0.81074	0.4747|0.4747	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.997;0.997;0.999;0.997;0.999;0.997	T|T	0.82096|0.82096	-0.0626|-0.0626	5|10	.|0.72032	.|D	.|0.01	-22.8088|-22.8088	19.9823|19.9823	0.97331|0.97331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203;47;313;313;313;113	.|E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.|.;.;.;MTSS1_HUMAN;.;.	D|M	60;160|313;313;113;47;317;113;203;113	.|ENSP00000367256:R313M;ENSP00000429064:R313M;ENSP00000346119:R113M;ENSP00000378884:R47M;ENSP00000322804:R317M;ENSP00000393606:R113M;ENSP00000428319:R203M;ENSP00000428145:R113M	.|ENSP00000322804:R317M	E|R	-|-	3|2	2|0	MTSS1|MTSS1	125644301|125644301	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.528000|0.528000	0.34623|0.34623	7.818000|7.818000	0.86416|0.86416	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAG|AGG		TCGA-IB-7651-01A-11D-2154-08	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	1	0	0	9	194	0	33	0	4.979821e-01	0	35	0	33	2		0	0	0	0	0	2	1	9.937255e-01	9	188	0	31	2								-11.524930	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.520000	0.260000	0.890000	0.500000	0.551443	0.520000	0	3.700000e-01	7.100000e-01
MTSS1	9788	broad.mit.edu	37	8	125580657	125580657	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125580657C>T	ENST00000518547.1	-	7	1054	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000431961.2_5'UTR|NDUFB9_ENST00000522532.1_3'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1			37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		GGTACAGAATCGGCCACGTTC	0.438000													Esophageal Squamous(160;622 1893 3862 8546 12509)											0							SO:0001583	missense			ENST00000518547.1	1	1	hg19	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382456	0.95967	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000524090	T;T;T;T	0.58652	0.67;0.75;0.73;0.32	5.55	5.55	0.83447	IRSp53/MIM homology domain (IMD) (3);	0.061993	0.64402	D	0.000004	T	0.75280	0.3828	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	P;D;D;D	0.97110	0.697;1.0;0.998;0.999	T	0.74544	-0.3630	10	0.52906	T	0.07	-14.0004	19.861	0.96785	0.0:1.0:0.0:0.0	.	84;194;194;194	E7EWW5;A5YM41;O43312;O43312-4	.;.;MTSS1_HUMAN;.	Q	194;194;198;84	ENSP00000367256:R194Q;ENSP00000429064:R194Q;ENSP00000322804:R198Q;ENSP00000428319:R84Q	ENSP00000322804:R198Q	R	-	2	0	MTSS1	125649838	1.000000	0.71417	0.931000	0.37212	0.737000	0.42083	7.689000	0.84165	2.767000	0.95098	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	1	0	1	51	296	0	66	1	9.988100e-01	3	58	0	66	2		0	0	0	0	0	2	1	1	50	290	0	66	2								-2.923548	1	1	121412	1	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
LONRF1	91694	broad.mit.edu	37	8	12598479	12598479	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12598479G>A	ENST00000398246.3	-	3	936	c.867C>T	c.(865-867)ctC>ctT	p.L289L	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1			19					CAGCATCGCAGAGTACTTTTC	0.338000																								0							SO:0001819	synonymous_variant			ENST00000398246.3	1	1	hg19	CCDS5987.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	0	0	0	19	876	0	174	0	3.688342e-01	1	57	0	174	2		0	0	0	0	0	2	1	9.999883e-01	19	858	0	172	2								-2.047075	0	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.240000	0.150000	0.370000	0.240000	0.257672	0.240000	0	1.900000e-01	3.100000e-01
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase			14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353000																								0							SO:0001583	missense			ENST00000265896.5	1	1	hg19	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	1	0	1	23	209	0	55	1	9.999983e-01	28	179	0	55	2		0	0	0	0	0	2	1	9.999994e-01	23	204	0	54	2								-2.774735	1	1	120800	3	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.750000	1.000000	1.000000	0.973083	0.990000	1	9.300000e-01	1
KIAA0196	9897	broad.mit.edu	37	8	126051140	126051140	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126051140C>A	ENST00000318410.7	-	25	3365	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196			42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		AGTGTGTTATCTTCTTTGGGG	0.423000																								0							SO:0001583	missense			ENST00000318410.7	1	1	hg19	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837395|4.837395	0.91117|0.91117	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86497|.	-2.13;-2.13|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.180662|.	0.64402|.	D|.	0.000020|.	T|T	0.77212|0.77212	0.4097|0.4097	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.975|.	D;P|.	0.71414|.	0.973;0.88|.	T|T	0.74481|0.74481	-0.3651|-0.3651	10|5	0.72032|.	D|.	0.01|.	-17.7857|-17.7857	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	858;1006|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	Y|N	1006;858|622	ENSP00000318016:D1006Y;ENSP00000429676:D858Y|.	ENSP00000318016:D1006Y|.	D|K	-|-	1|3	0|2	KIAA0196|KIAA0196	126120322|126120322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.814000|7.814000	0.86154|0.86154	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAT|AAG		TCGA-IB-7651-01A-11D-2154-08	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	1	0	0	31	742	0	139	1	9.789472e-01	9	139	0	139	2		0	0	0	0	0	2	1	1	31	731	0	139	2								-4.084891	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.460000	0.320000	0.640000	0.460000	0.476732	0.460000	0	3.800000e-01	5.600000e-01
KIAA0196	9897	broad.mit.edu	37	8	126093973	126093973	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126093973G>A	ENST00000318410.7	-	5	797	c.448C>T	c.(448-450)Cta>Tta	p.L150L	KIAA0196_ENST00000521109.1_5'Flank|KIAA0196_ENST00000517845.1_Silent_p.L2L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196			42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		ATGACCAGTAGCATAACTCCA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000318410.7	1	1	hg19	CCDS6355.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	1	0	0	49	290	0	65	1	9.999740e-01	21	73	0	65	2		0	0	0	0	0	2	1	1	47	279	0	65	2								-3.320871	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12946138G>A	ENST00000276297.4	-	16	4559	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein			110					TTAAGTAGGCGCTTTAAGATT	0.453000																								0							SO:0001583	missense			ENST00000276297.4	1	1	hg19	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735184	0.89482	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.05	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.993	D	0.90999	0.4841	10	0.87932	D	0	.	15.6902	0.77446	0.0:0.0:0.863:0.137	.	1384;981;947	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1384;947;323;981;873	ENSP00000276297:R1384C;ENSP00000351797:R947C;ENSP00000422595:R981C;ENSP00000428028:R873C	ENSP00000276297:R1384C	R	-	1	0	DLC1	12990509	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.562000	0.82300	2.793000	0.96121	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	1	113	529	0	112	0	9.998161e-01	0	60	0	112	2		0	0	0	0	0	2	1	1	111	519	0	112	2								-20.000000	1	1	121412	4	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLC1	10395	broad.mit.edu	37	8	12957094	12957094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957094G>A	ENST00000276297.4	-	9	3161	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	DLC1_ENST00000520226.1_Missense_Mutation_p.R407W|DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000512044.2_Missense_Mutation_p.R515W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein			110					TTGACTATCCGCTGCATCCCC	0.562000																								0							SO:0001583	missense			ENST00000276297.4	1	1	hg19	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751750	0.69533	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06849	3.48;3.25;3.25;3.26	5.43	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;P;P	0.64687	0.928;0.834;0.903	T	0.00507	-1.1699	10	0.87932	D	0	.	12.3702	0.55250	0.0:0.0:0.4075:0.5925	.	918;515;481	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	W	918;481;515;407	ENSP00000276297:R918W;ENSP00000351797:R481W;ENSP00000422595:R515W;ENSP00000428028:R407W	ENSP00000276297:R918W	R	-	1	2	DLC1	13001465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.539000	0.53604	0.584000	0.29591	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	0	23	255	0	46	0	9.243019e-01	0	51	0	46	2		0	0	0	0	0	2	1	9.999994e-01	22	251	0	46	2								-8.108611	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.950000	0.630000	1.000000	1.000000	0.912236	0.950000	1	7.800000e-01	1
DLC1	10395	broad.mit.edu	37	8	12957822	12957822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957822T>C	ENST00000276297.4	-	9	2433	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	DLC1_ENST00000520226.1_Missense_Mutation_p.K164R|DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000512044.2_Missense_Mutation_p.K272R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein			110					GCTCTTGAGCTTCAGGCTCTC	0.547000																								0							SO:0001583	missense			ENST00000276297.4	1	1	hg19	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	5.192	0.221034	0.09863	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.04156	3.89;3.69;3.69;3.74	4.84	4.84	0.62591	.	0.053786	0.64402	D	0.000001	T	0.02533	0.0077	N	0.04355	-0.22	0.80722	D	1	B;B;B	0.23540	0.087;0.004;0.025	B;B;B	0.20184	0.014;0.006;0.028	T	0.44190	-0.9344	10	0.07030	T	0.85	.	14.914	0.70781	0.0:0.0:0.0:1.0	.	675;272;238	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	675;238;272;164	ENSP00000276297:K675R;ENSP00000351797:K238R;ENSP00000422595:K272R;ENSP00000428028:K164R	ENSP00000276297:K675R	K	-	2	0	DLC1	13002193	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.344000	0.44010	2.168000	0.68352	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	1	147	615	0	117	0	9.917721e-01	0	33	0	117	2		0	0	0	0	0	2	1	1	141	605	0	117	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLC1	10395	broad.mit.edu	37	8	12957919	12957919	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957919G>A	ENST00000276297.4	-	9	2336	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DLC1_ENST00000520226.1_Missense_Mutation_p.P132S|DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000512044.2_Missense_Mutation_p.P240S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein			110					AGTTCCTTGGGAGAGGGCAGG	0.572000																								0							SO:0001583	missense			ENST00000276297.4	1	1	hg19	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753415	0.69648	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07567	3.48;3.28;3.27;3.18	4.89	4.89	0.63831	.	0.108634	0.64402	D	0.000005	T	0.26810	0.0656	L	0.56769	1.78	0.80722	D	1	D;B;D	0.71674	0.97;0.127;0.998	P;B;D	0.77557	0.664;0.041;0.99	T	0.00290	-1.1843	10	0.52906	T	0.07	.	18.6244	0.91332	0.0:0.0:1.0:0.0	.	643;240;206	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	643;206;240;132	ENSP00000276297:P643S;ENSP00000351797:P206S;ENSP00000422595:P240S;ENSP00000428028:P132S	ENSP00000276297:P643S	P	-	1	0	DLC1	13002290	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.657000	0.83745	2.699000	0.92147	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	1	127	602	0	114	0	9.983684e-01	0	47	0	114	2		0	0	0	0	0	2	1	1	125	593	0	113	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLC1	10395	broad.mit.edu	37	8	12968258	12968258	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12968258G>A	ENST00000276297.4	-	7	1904	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000512044.2_Silent_p.L96L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein			110					TACCTGCATAGAGCCTCAATG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000276297.4	1	1	hg19	CCDS5989.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	1	0	1	126	519	0	163	0	9.923118e-01	0	33	0	163	2		0	0	0	0	0	2	1	1	125	513	0	162	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASAP1	50807	broad.mit.edu	37	8	131146542	131146542	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131146542G>A	ENST00000518721.1	-	15	1444	c.1217C>T	c.(1216-1218)gCa>gTa	p.A406V	ASAP1_ENST00000357668.1_Splice_Site_p.A406V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1			68					AACTACTTACGCTACATAATC	0.328000																								0							SO:0001630	splice_region_variant			ENST00000518721.1	1	0	hg19	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180911	0.21787	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.76578	-1.03;-1.03	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.105801	0.64402	D	0.000005	T	0.69504	0.3118	L	0.43646	1.37	0.80722	D	1	B;B;P	0.37061	0.428;0.428;0.58	B;B;B	0.26770	0.051;0.051;0.073	T	0.67894	-0.5552	9	.	.	.	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	406;406;409	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	V	409;406;406	ENSP00000350297:A406V;ENSP00000429900:A406V	.	A	-	2	0	ASAP1	131215724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.709000	0.74665	2.811000	0.96726	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	1	0	1	46	173	0	45	0	9.999858e-01	1	66	0	45	2		0	0	0	0	0	2	1	1	46	170	0	44	2								-3.797986	1	1	121404	1	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADCY8	114	broad.mit.edu	37	8	131795943	131795943	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131795943G>A	ENST00000286355.5	-	17	5354	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)			134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)		TCACCAATCCGGAGTTCAAAA	0.512000										HNSCC(32;0.087)														0							SO:0001583	missense			ENST00000286355.5	1	1	hg19	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595263	0.86953	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.88277	-2.36;-2.36	5.4	5.4	0.78164	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	H	0.98466	4.24	0.40008	D	0.975253	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98911	1.0780	10	0.87932	D	0	.	18.539	0.91020	0.0:0.0:1.0:0.0	.	957;1088	E7EVL1;P40145	.;ADCY8_HUMAN	W	1088;957	ENSP00000286355:R1088W;ENSP00000367161:R957W	ENSP00000286355:R1088W	R	-	1	2	ADCY8	131865125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.911000	0.56378	2.681000	0.91329	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1	1	0	1	40	202	0	32	0	1.352435e-01	0	4	0	32	2		0	0	0	0	0	2	1	1	39	199	0	32	2								-2.964126	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ADCY8	114	broad.mit.edu	37	8	131859759	131859759	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131859759G>A	ENST00000286355.5	-	11	4505	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)			134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)		TCACACCACAGCTGCGGATTa	0.388000										HNSCC(32;0.087)														0							SO:0001630	splice_region_variant			ENST00000286355.5	1	0	hg19	CCDS6363.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1	0	0	1	15	62	0	28	0	2.702046e-01	0	5	0	28	2		0	0	0	0	0	2	1	9.998144e-01	12	56	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999486	0.990000	1	9.900000e-01	1
EFR3A	23167	broad.mit.edu	37	8	132952824	132952824	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132952824T>C	ENST00000254624.5	+	2	312		c.e2+2		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)			35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		GATCCAAAAGTAATTTGATCT	0.428000																								0							SO:0001630	splice_region_variant			ENST00000254624.5	0	1	hg19	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701431	0.88924	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5597	0.76234	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFR3A	133022006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.269000	0.75478	0.454000	0.30748	.		TCGA-IB-7651-01A-11D-2154-08	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	1	0	0	10	62	0	9	1	9.437730e-01	33	1	0	9	2		0	0	0	0	0	2	1	9.967316e-01	9	59	0	9	2								-18.147800	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.800000	1.000000	1.000000	0.987476	0.990000	1	9.900000e-01	1
EFR3A	23167	broad.mit.edu	37	8	132980547	132980547	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132980547G>T	ENST00000254624.5	+	9	1086	c.861G>T	c.(859-861)caG>caT	p.Q287H	EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H|EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)			35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		TTCAGGCTCAGTATTCTCACC	0.413000																								0							SO:0001583	missense			ENST00000254624.5	1	1	hg19	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868286	0.72065	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.49720	0.77;0.77;0.77	5.66	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.81112	2.525	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.66814	-0.5828	10	0.87932	D	0	-1.3492	6.3182	0.21202	0.1352:0.0:0.6941:0.1707	.	287	Q14156	EFR3A_HUMAN	H	287;287;287;251	ENSP00000254624:Q287H;ENSP00000334769:Q287H;ENSP00000428086:Q251H	ENSP00000254624:Q287H	Q	+	3	2	EFR3A	133049729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.014000	0.40951	1.356000	0.45884	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	1	0	1	25	119	0	25	1	9.999990e-01	18	99	0	25	2		0	0	0	0	0	2	1	9.999999e-01	24	117	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999932	0.990000	1	9.900000e-01	1
EFR3A	23167	broad.mit.edu	37	8	132982776	132982776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132982776G>A	ENST00000254624.5	+	10	1270	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I|EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	p.S348fs*15(1)		35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		GCGTCTCAGCGTTGAATTCGA	0.398000																								1	Deletion - Frameshift(1)						SO:0001583	missense			ENST00000254624.5	1	1	hg19	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441885	0.83993	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.35048	1.33;1.33;1.34	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.43923	1.385	0.80722	D	1	P	0.35401	0.499	B	0.29785	0.107	T	0.05022	-1.0911	10	0.25751	T	0.34	-23.4206	18.4707	0.90773	0.0:0.0:1.0:0.0	.	349	Q14156	EFR3A_HUMAN	I	349;349;349;313	ENSP00000254624:V349I;ENSP00000334769:V349I;ENSP00000428086:V313I	ENSP00000254624:V349I	V	+	1	0	EFR3A	133051958	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.473000	0.97714	2.622000	0.88805	0.591000	0.81541	GTT		TCGA-IB-7651-01A-11D-2154-08	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	1	0	1	38	188	0	41	1	1	26	151	0	41	2		0	0	0	0	0	2	1	1	36	185	0	41	2								-20.000000	1	1	121406	12	43	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
EFR3A	23167	broad.mit.edu	37	8	132996489	132996489	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132996489T>C	ENST00000254624.5	+	15	1904	c.1679T>C	c.(1678-1680)aTt>aCt	p.I560T	EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T|EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)			35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		CTTATAACTATTGAACTGGCT	0.363000																								0							SO:0001583	missense			ENST00000254624.5	1	1	hg19	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603648	0.87157	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.39406	1.08;1.08;1.09	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58810	1.83	0.80722	D	1	P	0.41131	0.739	B	0.40901	0.343	T	0.49093	-0.8975	10	0.87932	D	0	-25.7963	15.7305	0.77800	0.0:0.0:0.0:1.0	.	560	Q14156	EFR3A_HUMAN	T	560;560;560;524	ENSP00000254624:I560T;ENSP00000334769:I560T;ENSP00000428086:I524T	ENSP00000254624:I560T	I	+	2	0	EFR3A	133065671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.299000	0.77371	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	1	0	1	67	318	0	73	1	1	23	144	0	73	2		0	0	0	0	0	2	1	1	67	314	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OC90	729330	broad.mit.edu	37	8	133053837	133053837	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133053837G>A	ENST00000443356.2	-	5	365	c.279C>T	c.(277-279)gaC>gaT	p.D93D	OC90_ENST00000254627.3_Silent_p.D93D|OC90_ENST00000262283.5_Silent_p.D289D|OC90_ENST00000603859.1_Silent_p.D93D			Q02509	OC90_HUMAN	otoconin 90			37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)		AGTCTTCAAAGTCTCGGGGGC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000443356.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OC90-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	41	177	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	39	170	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNQ3	3786	broad.mit.edu	37	8	133187774	133187774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133187774G>A	ENST00000388996.4	-	5	1279	c.859C>T	c.(859-861)Cca>Tca	p.P287S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3			70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCACCTCTGGGACGTCTTTC	0.502000																								0							SO:0001583	missense			ENST00000388996.4	1	1	hg19	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174095	0.57692	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97430	-4.38;-4.38;-4.38	5.39	5.39	0.77823	Ion transport (1);	0.061356	0.64402	D	0.000003	D	0.96703	0.8924	L	0.39514	1.22	0.40614	D	0.981702	P;B	0.48089	0.905;0.44	P;B	0.52823	0.71;0.138	D	0.97520	1.0072	10	0.66056	D	0.02	-15.9165	18.5028	0.90888	0.0:0.0:1.0:0.0	.	287;287	E7ET42;O43525	.;KCNQ3_HUMAN	S	287;167;287;276;166	ENSP00000373648:P287S;ENSP00000429799:P167S;ENSP00000428790:P287S	ENSP00000373648:P287S	P	-	1	0	KCNQ3	133256956	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	4.478000	0.60230	2.674000	0.91012	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	1	0	1	54	320	0	80	0	2.734638e-01	0	7	0	80	2		0	0	0	0	0	2	1	1	54	314	0	78	2								-19.999980	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
LRRC6	23639	broad.mit.edu	37	8	133627315	133627315	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133627315T>G	ENST00000519595.1	-	8	1041	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	LRRC6_ENST00000518642.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q			Q86X45	TILB_HUMAN	leucine rich repeat containing 6			34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		ATGATCTGCTTTTCGTTATCT	0.313000																								0							SO:0001583	missense			ENST00000519595.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.334786|1.334786	0.24253|0.24253	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414|ENST00000519085	T;T;T|.	0.50813|.	0.73;0.95;0.73|.	4.93|4.93	2.54|2.54	0.30619|0.30619	CS-like domain (1);|.	0.318240|0.318240	0.35436|0.35436	N|N	0.003212|0.003212	T|T	0.41096|0.41096	0.1144|0.1144	L|L	0.58669|0.58669	1.825|1.825	0.21499|0.21499	N|N	0.999661|0.999661	P|.	0.42735|.	0.788|.	B|.	0.24006|.	0.05|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|6	0.41790|.	T|.	0.15|.	-18.0453|-18.0453	5.7871|5.7871	0.18338|0.18338	0.0:0.2776:0.0:0.7224|0.0:0.2776:0.0:0.7224	.|.	315|.	Q86X45|.	LRRC6_HUMAN|.	Q|T	315|36	ENSP00000429791:K315Q;ENSP00000428610:K315Q;ENSP00000250173:K315Q|.	ENSP00000250173:K315Q|.	K|K	-|-	1|2	0|0	LRRC6|LRRC6	133696497|133696497	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.664000|0.664000	0.39144|0.39144	1.613000|1.613000	0.36900|0.36900	0.831000|0.831000	0.34780|0.34780	0.460000|0.460000	0.39030|0.39030	AAG|AAA		TCGA-IB-7651-01A-11D-2154-08	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	1	0	1	54	224	0	67	0	6.621168e-01	1	10	0	67	2		0	0	0	0	0	2	1	1	54	220	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC6	23639	broad.mit.edu	37	8	133645086	133645086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133645086C>T	ENST00000519595.1	-	5	651	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	LRRC6_ENST00000518642.1_Missense_Mutation_p.E185K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K|LRRC6_ENST00000520446.1_Intron			Q86X45	TILB_HUMAN	leucine rich repeat containing 6			34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		TGAGCCTCTTCCTTGAGTTTG	0.423000																								0							SO:0001583	missense			ENST00000519595.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.30	1.895431	0.33442	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.56275	0.63;0.47;0.63	5.23	3.44	0.39384	.	0.437579	0.26514	N	0.023948	T	0.36936	0.0985	L	0.28192	0.835	0.36467	D	0.867013	B	0.24368	0.102	B	0.20184	0.028	T	0.30001	-0.9993	10	0.29301	T	0.29	-12.1542	10.9021	0.47058	0.0:0.8472:0.0:0.1528	.	185	Q86X45	LRRC6_HUMAN	K	185	ENSP00000429791:E185K;ENSP00000428610:E185K;ENSP00000250173:E185K	ENSP00000250173:E185K	E	-	1	0	LRRC6	133714268	1.000000	0.71417	0.989000	0.46669	0.500000	0.33767	2.502000	0.45398	0.705000	0.31890	0.555000	0.69702	GAA		TCGA-IB-7651-01A-11D-2154-08	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	0	0	1	145	709	0	150	0	5.272226e-01	0	10	0	150	2		0	0	0	0	0	2	1	1	144	697	0	148	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF20L1	51105	broad.mit.edu	37	8	133816275	133816275	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133816275T>G	ENST00000395386.2	+	7	1018	c.719T>G	c.(718-720)tTt>tGt	p.F240C	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C|PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1			15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		AGTGAAACATTTGGTACAAAA	0.353000																								0							SO:0001583	missense			ENST00000395386.2	1	1	hg19	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721680	0.68959	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.53423	0.77;0.8;0.76;1.39;0.76;0.82;0.62;1.4	5.44	5.44	0.79542	.	0.355484	0.32836	N	0.005589	T	0.55257	0.1909	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.986	D;D;D;D;P	0.80764	0.976;0.919;0.994;0.965;0.794	T	0.54906	-0.8223	10	0.38643	T	0.18	-2.061	14.6865	0.69052	0.0:0.0:0.0:1.0	.	214;79;240;240;214	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	C	244;240;214;240;240;214;244;110;214;79	ENSP00000378781:F244C;ENSP00000378777:F240C;ENSP00000355301:F214C;ENSP00000378784:F240C;ENSP00000324519:F240C;ENSP00000338269:F214C;ENSP00000378775:F244C;ENSP00000378788:F214C	ENSP00000324519:F240C	F	+	2	0	PHF20L1	133885457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.182000	0.58310	2.073000	0.62155	0.477000	0.44152	TTT		TCGA-IB-7651-01A-11D-2154-08	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	1	0	1	41	178	0	38	1	9.966288e-01	7	34	0	38	2		0	0	0	0	0	2	1	1	41	173	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF20L1	51105	broad.mit.edu	37	8	133827072	133827072	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133827072T>G	ENST00000395386.2	+	10	1420	c.1121T>G	c.(1120-1122)tTa>tGa	p.L374*	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1			15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		TCCCCAGAATTAATACAAGTC	0.368000																								0							SO:0001587	stop_gained			ENST00000395386.2	0	1	hg19	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	T	38	6.924387	0.97940	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	.	.	.	5.98	5.98	0.97165	.	0.840981	0.10934	N	0.618005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9413	15.6508	0.77091	0.0:0.0:0.0:1.0	.	.	.	.	X	378;349;374;374;244;349	.	ENSP00000324519:L374X	L	+	2	0	PHF20L1	133896254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.289000	0.77006	0.482000	0.46254	TTA		TCGA-IB-7651-01A-11D-2154-08	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	1	0	0	92	446	0	119	1	9.984935e-01	3	46	0	119	2		0	0	0	0	0	2	1	1	89	439	0	118	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TG	7038	broad.mit.edu	37	8	133919108	133919108	+	Silent	SNP	C	C	A	rs61747463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133919108C>A	ENST00000220616.4	+	17	3850	c.3810C>A	c.(3808-3810)cgC>cgA	p.R1270R	TG_ENST00000377869.1_Silent_p.R1270R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin			168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)		AGAGCGGACGCTGGGAGTCAC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000220616.4	1	1	hg19	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980737	0.18812	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.42	3.47	0.39725	.	.	.	.	.	T	0.56746	0.2006	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52968	-0.8504	4	.	.	.	.	8.0575	0.30614	0.1816:0.6431:0.1753:0.0	rs61747463	.	.	.	D	214	.	.	A	+	2	0	TG	133988290	0.180000	0.23148	0.857000	0.33713	0.795000	0.44927	0.416000	0.21198	1.241000	0.43820	0.609000	0.83330	GCT		TCGA-IB-7651-01A-11D-2154-08	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	1	0	1	25	112	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.999999e-01	23	109	0	24	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
TG	7038	broad.mit.edu	37	8	133980078	133980078	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133980078T>C	ENST00000220616.4	+	31	5766	c.5726T>C	c.(5725-5727)aTa>aCa	p.I1909T	TG_ENST00000519543.1_Missense_Mutation_p.I63T|TG_ENST00000377869.1_Missense_Mutation_p.I1852T|TG_ENST00000542445.1_Missense_Mutation_p.I279T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin			168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)		CTCGCAGAGATAACAGAGAGT	0.502000																								0							SO:0001583	missense			ENST00000220616.4	1	1	hg19	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.346|8.346	0.829904|0.829904	0.16749|0.16749	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000518058	T;T;T;T|.	0.70749|.	-0.29;-0.3;-0.5;-0.51|.	5.77|5.77	4.55|4.55	0.56014|0.56014	.|.	0.806159|.	0.11516|.	N|.	0.556198|.	T|.	0.56001|.	0.1956|.	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;P;P|.	0.37276|.	0.363;0.589;0.514|.	B;B;B|.	0.33392|.	0.039;0.163;0.122|.	T|.	0.50250|.	-0.8850|.	10|.	0.87932|.	D|.	0|.	.|.	10.3|10.3	0.43646|0.43646	0.0:0.0:0.1644:0.8356|0.0:0.0:0.1644:0.8356	.|.	63;279;1909|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|Q	1852;715;1909;279;63|41	ENSP00000367100:I1852T;ENSP00000220616:I1909T;ENSP00000441693:I279T;ENSP00000430430:I63T|.	ENSP00000220616:I1909T|.	I|X	+|+	2|1	0|0	TG|TG	134049260|134049260	0.417000|0.417000	0.25432|0.25432	0.027000|0.027000	0.17364|0.17364	0.052000|0.052000	0.14988|0.14988	5.197000|5.197000	0.65141|0.65141	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATA|TAA		TCGA-IB-7651-01A-11D-2154-08	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	1	0	1	33	133	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1	32	130	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TG	7038	broad.mit.edu	37	8	134025901	134025901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134025901G>A	ENST00000220616.4	+	37	6494	c.6454G>A	c.(6454-6456)Gtg>Atg	p.V2152M	TG_ENST00000519543.1_Missense_Mutation_p.V285M|TG_ENST00000377869.1_Missense_Mutation_p.V2095M|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.V522M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	p.V2152L(1)		168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)		ACCTGGGGCTGTGAGATGTAT	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000220616.4	1	1	hg19	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.314|8.314	0.822879|0.822879	0.16678|0.16678	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.70164	.|-0.25;-0.27;-0.46;-0.44	5.18|5.18	2.39|2.39	0.29439|0.29439	.|.	.|0.507061	.|0.18166	.|N	.|0.149606	T|T	0.56717|0.56717	0.2004|0.2004	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.22414	.|0.042;0.069;0.042	.|B;B;B	.|0.24701	.|0.028;0.055;0.046	T|T	0.52609|0.52609	-0.8553|-0.8553	5|10	.|0.62326	.|D	.|0.03	.|.	5.6691|5.6691	0.17713|0.17713	0.1781:0.1606:0.6613:0.0|0.1781:0.1606:0.6613:0.0	.|.	.|285;522;2152	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|M	607|2095;958;2152;522;285	.|ENSP00000367100:V2095M;ENSP00000220616:V2152M;ENSP00000441693:V522M;ENSP00000430430:V285M	.|ENSP00000220616:V2152M	C|V	+|+	2|1	0|0	TG|TG	134095083|134095083	0.561000|0.561000	0.26578|0.26578	0.229000|0.229000	0.23960|0.23960	0.381000|0.381000	0.30169|0.30169	1.029000|1.029000	0.30140|0.30140	0.279000|0.279000	0.22186|0.22186	-0.254000|-0.254000	0.11334|0.11334	TGT|GTG		TCGA-IB-7651-01A-11D-2154-08	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	1	0	1	74	288	0	75	0	4.290230e-02	0	2	0	75	2		0	0	0	0	0	2	1	1	72	274	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLA	6503	broad.mit.edu	37	8	134060123	134060123	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134060123C>T	ENST00000338087.5	-	6	1123	c.304G>A	c.(304-306)Gac>Aac	p.D102N	SLA_ENST00000395352.3_Missense_Mutation_p.D119N|SLA_ENST00000524345.1_5'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.D142N|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.D119N|SLA_ENST00000518565.1_5'Flank|TG_ENST00000542445.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor			17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)		ACCTTTGTGTCTGGCAGCTGC	0.572000																								0							SO:0001583	missense			ENST00000338087.5	1	1	hg19	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828569	0.50845	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	T;T;T;D;D	0.92348	1.57;1.57;1.57;-3.02;-3.02	5.6	5.6	0.85130	SH2 motif (4);	0.181413	0.64402	D	0.000017	T	0.82226	0.4991	N	0.02865	-0.47	0.51233	D	0.99991	B;B;B;B;B	0.18461	0.028;0.004;0.004;0.0;0.004	B;B;B;B;B	0.19391	0.025;0.01;0.01;0.002;0.01	T	0.76926	-0.2778	10	0.25751	T	0.34	-43.0063	17.4647	0.87629	0.0:1.0:0.0:0.0	.	119;102;102;102;102	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	N	102;142;119;119;102	ENSP00000337548:D102N;ENSP00000394049:D142N;ENSP00000378759:D119N;ENSP00000428559:D119N;ENSP00000430596:D102N	ENSP00000337548:D102N	D	-	1	0	SLA	134129305	0.922000	0.31269	1.000000	0.80357	0.994000	0.84299	1.859000	0.39418	2.793000	0.96121	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1	1	0	1	39	273	0	61	0	1	0	192	0	61	2		0	0	0	0	0	2	1	1	39	269	0	60	2								-3.142832	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999408	0.990000	1	9.900000e-01	1
TG	7038	broad.mit.edu	37	8	134144149	134144149	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134144149G>A	ENST00000220616.4	+	46	7996	c.7956G>A	c.(7954-7956)tcG>tcA	p.S2652S	TG_ENST00000519543.1_Silent_p.S785S|TG_ENST00000377869.1_Silent_p.S2595S|TG_ENST00000542445.1_Silent_p.S1022S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	p.S2652S(1)		168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)		AGAGCCTGTCGCTGAAAATCA	0.507000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000220616.4	1	1	hg19	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182462	0.09495	0.0	2.33E-4	ENSG00000042832	ENST00000519178	.	.	.	5.32	-10.6	0.00265	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	T	0.69011	-0.5258	4	.	.	.	.	0.5461	0.00654	0.2289:0.2851:0.2121:0.2739	.	.	.	.	T	1108	.	.	A	+	1	0	TG	134213331	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-5.450000	0.00121	-7.265000	0.00001	-1.671000	0.00744	GCT		TCGA-IB-7651-01A-11D-2154-08	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	1	0	1	76	360	0	84	0	3.123537e-02	0	2	0	84	2		0	0	0	0	0	2	1	1	74	349	0	84	2								-20.000000	1	1	121412	7	42	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST3GAL1	6482	broad.mit.edu	37	8	134477178	134477178	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134477178C>A	ENST00000319914.5	-	6	1553	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1			17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)		GCTTCAAACCCTGCCGTGGGC	0.577000																								0							SO:0001583	missense			ENST00000319914.5	1	1	hg19	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956753	0.73902	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	4.84	4.84	0.62591	.	0.049817	0.85682	D	0.000000	T	0.66458	0.2791	M	0.90922	3.16	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.74553	-0.3627	10	0.87932	D	0	-10.1328	12.7902	0.57528	0.0:0.8355:0.1645:0.0	.	176	Q11201	SIA4A_HUMAN	W	176;176;176;176;46;46	ENSP00000318445:G176W;ENSP00000414073:G176W;ENSP00000428540:G176W;ENSP00000430515:G176W;ENSP00000429638:G46W;ENSP00000427720:G46W	ENSP00000318445:G176W	G	-	1	0	ST3GAL1	134546360	1.000000	0.71417	0.738000	0.30950	0.864000	0.49448	5.833000	0.69349	2.235000	0.73313	0.511000	0.50034	GGG		TCGA-IB-7651-01A-11D-2154-08	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	1	0	1	153	719	0	156	1	1	55	108	0	156	2		0	0	0	0	0	2	1	1	152	708	0	154	2								-2.857381	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST3GAL1	6482	broad.mit.edu	37	8	134478233	134478233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134478233G>A	ENST00000319914.5	-	5	1434	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1			17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)		GCAGCCCACCGACCTCTTCTC	0.572000																								0							SO:0001583	missense			ENST00000319914.5	1	1	hg19	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	6.970	0.549021	0.13312	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.30714	2.16;2.16;2.16;2.16;1.52;1.52	4.7	1.27	0.21489	.	0.299822	0.36409	N	0.002613	T	0.12774	0.0310	N	0.04275	-0.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	10	0.34782	T	0.22	-17.8018	8.7121	0.34389	0.2966:0.0:0.7034:0.0	.	136	Q11201	SIA4A_HUMAN	L	136;136;136;136;6;6	ENSP00000318445:S136L;ENSP00000414073:S136L;ENSP00000428540:S136L;ENSP00000430515:S136L;ENSP00000429638:S6L;ENSP00000427720:S6L	ENSP00000318445:S136L	S	-	2	0	ST3GAL1	134547415	0.001000	0.12720	0.022000	0.16811	0.379000	0.30106	0.974000	0.29436	0.010000	0.14839	-0.254000	0.11334	TCG		TCGA-IB-7651-01A-11D-2154-08	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	1	0	1	77	336	0	80	1	1	46	100	0	80	2		0	0	0	0	0	2	1	1	74	333	0	80	2								-3.318794	1	1	121412	38	48	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFAT	57623	broad.mit.edu	37	8	135614146	135614146	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614146C>T	ENST00000377838.3	-	6	1990	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000520727.1_Missense_Mutation_p.A594T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	p.A606T(1)|p.A594T(1)		54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)		TGAGCCTCTGCGGAGGAGGTA	0.532000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000377838.3	1	1	hg19	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.514163	0.00975	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.10005	2.99;2.92;2.92;2.92;2.92;2.94	5.25	-6.7	0.01766	.	1.892650	0.02219	N	0.063857	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.19935	0.04;0.01;0.003;0.001	B;B;B;B	0.12837	0.008;0.004;0.002;0.001	T	0.25813	-1.0121	10	0.44086	T	0.13	-0.0204	1.9495	0.03364	0.1549:0.2715:0.1635:0.4101	.	544;594;594;606	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	T	594;594;594;606;594;493;544;594	ENSP00000427879:A594T;ENSP00000427831:A594T;ENSP00000394501:A594T;ENSP00000367069:A606T;ENSP00000428483:A594T;ENSP00000429091:A544T	ENSP00000326997:A493T	A	-	1	0	ZFAT	135683328	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.674000	0.05233	-1.512000	0.01791	-1.332000	0.01269	GCA		TCGA-IB-7651-01A-11D-2154-08	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	1	0	1	71	262	0	64	1	9.019654e-01	6	11	0	64	2		0	0	0	0	0	2	1	1	70	260	0	62	2								-20.000000	1	1	120902	38	46	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFAT	57623	broad.mit.edu	37	8	135614438	135614438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614438C>A	ENST00000377838.3	-	6	1698	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000520727.1_Missense_Mutation_p.Q496H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing			54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)		GAGCTTCTTGCTGGATGTCCC	0.602000																								0							SO:0001583	missense			ENST00000377838.3	1	1	hg19	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678896	0.29783	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.11495	2.85;2.78;2.78;2.77;2.78;2.82	6.04	3.28	0.37604	.	0.183522	0.39146	N	0.001442	T	0.08714	0.0216	L	0.32530	0.975	0.46011	D	0.99881	B;B;B;B	0.16166	0.011;0.011;0.016;0.004	B;B;B;B	0.19666	0.01;0.009;0.026;0.003	T	0.15435	-1.0437	10	0.41790	T	0.15	-19.2128	8.868	0.35298	0.0:0.726:0.1347:0.1394	.	446;496;496;508	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	496;496;496;508;496;446;496	ENSP00000427879:Q496H;ENSP00000427831:Q496H;ENSP00000394501:Q496H;ENSP00000367069:Q508H;ENSP00000428483:Q496H;ENSP00000429091:Q446H	ENSP00000367069:Q508H	Q	-	3	2	ZFAT	135683620	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.599000	0.24089	0.892000	0.36259	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	1	0	0	15	143	0	33	0	1.895181e-01	0	8	0	33	2		0	0	0	0	0	2	1	9.998933e-01	15	142	0	33	2								-19.989730	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.650000	1.000000	1.000000	0.948499	0.990000	1	8.500000e-01	1
ZFAT	57623	broad.mit.edu	37	8	135615146	135615146	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135615146A>C	ENST00000377838.3	-	6	990	c.816T>G	c.(814-816)acT>acG	p.T272T	ZFAT_ENST00000520214.1_Silent_p.T260T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.T210T|ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000520727.1_Silent_p.T260T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing			54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)		AGTATTCACAAGTGAAGATTT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000377838.3	1	1	hg19	CCDS47924.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	1	0	1	83	324	0	99	1	6.372057e-01	2	8	0	99	2		0	0	0	0	0	2	1	1	83	322	0	99	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL22A1	169044	broad.mit.edu	37	8	139697494	139697494	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139697494G>T	ENST00000303045.6	-	38	3370	c.2924C>A	c.(2923-2925)cCt>cAt	p.P975H	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P975H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1			211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)		AGGGAGCCCAGGAGCACCAGG	0.582000										HNSCC(7;0.00092)														0							SO:0001583	missense			ENST00000303045.6	0	1	hg19	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892228	0.17613	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97772	-4.53;-4.53	4.42	4.42	0.53409	.	0.000000	0.46758	U	0.000265	D	0.99026	0.9667	H	0.95917	3.74	0.20403	N	0.9999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95101	0.8230	10	0.62326	D	0.03	.	12.455	0.55700	0.0:0.0:1.0:0.0	.	975;975	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	H	975;975;688	ENSP00000303153:P975H;ENSP00000387655:P975H	ENSP00000303153:P975H	P	-	2	0	COL22A1	139766676	0.945000	0.32115	0.072000	0.20136	0.005000	0.04900	3.183000	0.50918	2.308000	0.77769	0.442000	0.29010	CCT		TCGA-IB-7651-01A-11D-2154-08	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	0	0	0	9	426	0	88	0	1.692665e-03	0	3	0	88	2		0	0	0	0	0	2	1	9.939515e-01	9	420	0	88	2								-7.987277	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.240000	0.120000	0.430000	0.240000	0.262809	0.240000	0	1.700000e-01	3.400000e-01
COL22A1	169044	broad.mit.edu	37	8	139763703	139763703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139763703G>A	ENST00000303045.6	-	22	2529	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1			211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)		TTACTTACTCGGAGACCTTGC	0.448000										HNSCC(7;0.00092)														0							SO:0001587	stop_gained			ENST00000303045.6	0	1	hg19	CCDS6376.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	44	11.243823	0.99536	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.72	4.72	0.59763	.	0.168727	0.26457	N	0.024262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.3916	0.60827	0.0:0.0:1.0:0.0	.	.	.	.	X	695;695;408	.	ENSP00000303153:R695X	R	-	1	2	COL22A1	139832885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.035000	0.57297	2.640000	0.89533	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	1	0	1	33	175	0	51	0	2.528243e-01	0	6	0	51	2		0	0	0	0	0	2	1	1	32	171	0	51	2								-2.631394	1	1	121412	1	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
COL22A1	169044	broad.mit.edu	37	8	139825183	139825183	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139825183G>A	ENST00000303045.6	-	8	1771	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	COL22A1_ENST00000435777.1_Splice_Site_p.P442L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	p.P442R(1)		211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)		TCTGCTCACCGGACCCGAGGG	0.537000										HNSCC(7;0.00092)														1	Substitution - Missense(1)						SO:0001630	splice_region_variant			ENST00000303045.6	0	1	hg19	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980324	0.53827	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.88741	-2.42;-2.34	4.72	4.72	0.59763	.	0.000000	0.42548	U	0.000687	T	0.76772	0.4034	N	0.17474	0.49	0.58432	D	0.999998	P	0.42375	0.778	B	0.29785	0.107	T	0.77915	-0.2409	9	.	.	.	.	14.8862	0.70570	0.0:0.0:1.0:0.0	.	442	Q8NFW1	COMA1_HUMAN	L	442	ENSP00000303153:P442L;ENSP00000387655:P442L	.	P	-	2	0	COL22A1	139894365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.370000	0.79589	2.203000	0.70933	0.460000	0.39030	CCG		TCGA-IB-7651-01A-11D-2154-08	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	0	0	0	8	280	0	67	0	1.446245e-02	0	6	0	67	2		0	0	0	0	0	2	1	9.882050e-01	6	273	0	65	2								-3.017596	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.330000	0.150000	0.590000	0.320000	0.354211	0.330000	0	2.300000e-01	4.600000e-01
COL22A1	169044	broad.mit.edu	37	8	139890402	139890402	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139890402G>A	ENST00000303045.6	-	3	695	c.249C>T	c.(247-249)agC>agT	p.S83S	COL22A1_ENST00000435777.1_Silent_p.S83S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1			211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)		TGGGCCGGTCGCTGTAGCGCA	0.677000										HNSCC(7;0.00092)														0							SO:0001819	synonymous_variant			ENST00000303045.6	0	1	hg19	CCDS6376.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	1	0	1	13	54	0	11	0	4.347826e-02	0	2	0	11	2		0	0	0	0	0	2	1	9.996863e-01	12	54	0	11	2								-19.999960	1	1	121044	1	28	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998966	0.990000	1	9.900000e-01	1
KCNK9	51305	broad.mit.edu	37	8	140714976	140714976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714976G>A	ENST00000520439.1	-	1	323	c.260C>T	c.(259-261)gCg>gTg	p.A87V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9			43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)	Doxapram(DB00561)|Halothane(DB01159)	GACCGTGATCGCAAAGTAGAA	0.701000																								0							SO:0001583	missense			ENST00000520439.1	0	1	hg19	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164005	0.94727	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.28454	1.61;1.61;1.61	3.87	3.87	0.44632	Ion transport 2 (1);	0.000000	0.64402	D	0.000001	T	0.48259	0.1490	M	0.73430	2.235	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	T	0.54200	-0.8329	10	0.46703	T	0.11	.	15.1508	0.72696	0.0:0.0:1.0:0.0	.	87	Q9NPC2	KCNK9_HUMAN	V	87	ENSP00000429847:A87V;ENSP00000302166:A87V;ENSP00000430676:A87V	ENSP00000302166:A87V	A	-	2	0	KCNK9	140784158	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.704000	0.91351	1.839000	0.53478	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	1	0	0	6	122	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.635341e-01	6	119	0	13	2								-9.084912	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.560000	0.240000	1.000000	1.000000	0.594054	0.560000	0	3.800000e-01	8.100000e-01
KCNK9	51305	broad.mit.edu	37	8	140714984	140714984	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714984G>T	ENST00000520439.1	-	1	315	c.252C>A	c.(250-252)ttC>ttA	p.F84L	KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9			43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)	Doxapram(DB00561)|Halothane(DB01159)	TCGCAAAGTAGAAGGAGCCGG	0.677000																								0							SO:0001583	missense			ENST00000520439.1	0	1	hg19	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909430	0.72868	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.26067	1.76;1.76;1.76	3.87	2.99	0.34606	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.28344	0.845	0.58432	D	0.999993	P	0.44195	0.828	P	0.50934	0.654	T	0.01884	-1.1254	10	0.42905	T	0.14	.	7.3744	0.26821	0.2046:0.0:0.7954:0.0	.	84	Q9NPC2	KCNK9_HUMAN	L	84	ENSP00000429847:F84L;ENSP00000302166:F84L;ENSP00000430676:F84L	ENSP00000302166:F84L	F	-	3	2	KCNK9	140784166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.417000	0.59822	0.716000	0.32124	0.555000	0.69702	TTC		TCGA-IB-7651-01A-11D-2154-08	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	1	0	0	19	118	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.999928e-01	18	116	0	15	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.997722	0.990000	1	9.900000e-01	1
TRAPPC9	83696	broad.mit.edu	37	8	141381095	141381095	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141381095C>A	ENST00000438773.2	-	8	1452	c.1319G>T	c.(1318-1320)aGt>aTt	p.S440I	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.S538I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9			47					CAGCGACAGACTGTAGCCGGG	0.597000																								0							SO:0001583	missense			ENST00000438773.2	1	1	hg19	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150767|4.150767	0.78001|0.78001	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.5|5.5	4.62|4.62	0.57501|0.57501	.|.	.|0.077470	.|0.85682	.|D	.|0.000000	T|T	0.64148|0.64148	0.2572|0.2572	L|L	0.34521|0.34521	1.04|1.04	0.48087|0.48087	D|D	0.999587|0.999587	.|D;P;D	.|0.71674	.|0.998;0.887;0.996	.|D;P;P	.|0.65773	.|0.938;0.668;0.878	T|T	0.64947|0.64947	-0.6287|-0.6287	5|9	.|0.46703	.|T	.|0.11	.|.	14.0622|14.0622	0.64806|0.64806	0.151:0.849:0.0:0.0|0.151:0.849:0.0:0.0	.|.	.|440;431;538	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	H|I	283|538;431;440	.|.	.|ENSP00000373978:S431I	Q|S	-|-	3|2	2|0	TRAPPC9|TRAPPC9	141450277|141450277	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.731000|0.731000	0.41821|0.41821	7.433000|7.433000	0.80362|0.80362	1.310000|1.310000	0.45006|0.45006	0.455000|0.455000	0.32223|0.32223	CAG|AGT		TCGA-IB-7651-01A-11D-2154-08	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	1	0	1	95	431	0	106	1	9.975138e-01	8	35	0	106	2		0	0	0	0	0	2	1	1	95	427	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAPPC9	83696	broad.mit.edu	37	8	141461131	141461131	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141461131C>T	ENST00000438773.2	-	2	475	c.342G>A	c.(340-342)cgG>cgA	p.R114R	TRAPPC9_ENST00000389327.3_Silent_p.R114R|TRAPPC9_ENST00000389328.4_Silent_p.R212R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9			47					AGACAAAGAGCCGGGAGTCAT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000438773.2	1	1	hg19	CCDS55278.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	1	0	1	67	276	0	78	1	9.796481e-01	7	21	0	78	2		0	0	0	0	0	2	1	1	67	276	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRAC1	54108	broad.mit.edu	37	8	141524478	141524478	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141524478T>G	ENST00000220913.5	+	2	360	c.158T>G	c.(157-159)gTt>gGt	p.V53G	CHRAC1_ENST00000519533.1_Intron	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1			2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)		GAGCTCTTTGTTCAATGCCTA	0.353000																								0							SO:0001583	missense			ENST00000220913.5	1	1	hg19	CCDS6379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.236441|4.236441	0.79800|0.79800	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000519618|ENST00000220913;ENST00000518971	.|T;T	.|0.52057	.|0.78;0.68	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75852|0.75852	0.3906|0.3906	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.82564|0.82564	-0.0394|-0.0394	5|10	.|0.87932	.|D	.|0	-13.1144|-13.1144	15.4899|15.4899	0.75597|0.75597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|53	.|Q9NRG0	.|CHRC1_HUMAN	V|G	19|53;40	.|ENSP00000220913:V53G;ENSP00000430484:V40G	.|ENSP00000220913:V53G	F|V	+|+	1|2	0|0	CHRAC1|CHRAC1	141593660|141593660	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.900000|0.900000	0.52787|0.52787	6.923000|6.923000	0.75817|0.75817	2.133000|2.133000	0.65898|0.65898	0.533000|0.533000	0.62120|0.62120	TTC|GTT		TCGA-IB-7651-01A-11D-2154-08	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	1	0	1	37	183	0	41	1	1	57	101	0	41	2		0	0	0	0	0	2	1	1	36	177	0	41	2								-19.890610	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
PTK2	5747	broad.mit.edu	37	8	141799596	141799596	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799596C>T	ENST00000522684.1	-	14	1383	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q|PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2			48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)		GGCGTGTGTCCGCATGCCTTG	0.512000																								0							SO:0001583	missense			ENST00000522684.1	1	1	hg19	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435814	0.83885	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.76578	-1.01;-0.98;-1.03;-1.01;-0.99;-0.94;-0.99;-0.95;-1.03;-1.0	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	L	0.50333	1.59	0.44309	D	0.997188	B;B;B;B;B;B;B;D	0.53619	0.181;0.373;0.11;0.336;0.222;0.074;0.055;0.961	B;B;B;B;B;B;B;P	0.48524	0.011;0.048;0.014;0.019;0.013;0.009;0.006;0.58	T	0.75260	-0.3380	10	0.32370	T	0.25	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	385;46;292;385;407;385;296;46	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	Q	385;385;429;385;295;385;292;46;50;385;46;429;49;203	ENSP00000429911:R385Q;ENSP00000438009:R385Q;ENSP00000429082:R429Q;ENSP00000429474:R385Q;ENSP00000378644:R385Q;ENSP00000428492:R50Q;ENSP00000341189:R385Q;ENSP00000445742:R46Q;ENSP00000429129:R429Q;ENSP00000430603:R49Q	ENSP00000341189:R385Q	R	-	2	0	PTK2	141868778	0.998000	0.40836	0.989000	0.46669	0.995000	0.86356	4.196000	0.58407	2.941000	0.99782	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	0	0	1	196	903	0	233	1	1	41	88	0	233	2		0	0	0	0	0	2	1	1	194	889	0	232	2								-2.761066	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTK2	5747	broad.mit.edu	37	8	141799614	141799614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799614C>T	ENST00000522684.1	-	14	1365	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	PTK2_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N|PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2			48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)		TTGCTTTTCGCTGTTGGCCAA	0.552000																								0							SO:0001583	missense			ENST00000522684.1	1	1	hg19	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303527	0.23736	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.94;-0.95;-0.96;-0.95;-0.9;-0.95;-0.91;-0.95;-0.89	5.87	3.69	0.42338	.	0.161248	0.64402	N	0.000002	T	0.49389	0.1554	N	0.11000	0.08	0.28552	N	0.911562	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001;0.0;0.0;0.0	T	0.31586	-0.9938	10	0.16420	T	0.52	.	6.8538	0.24030	0.0:0.7674:0.0:0.2326	.	379;40;286;379;401;379;290;40	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.;.;.;FAK1_HUMAN;.;.;.;.	N	379;379;423;379;289;379;286;40;44;379;40;423;43;197	ENSP00000429911:S379N;ENSP00000438009:S379N;ENSP00000429082:S423N;ENSP00000429474:S379N;ENSP00000378644:S379N;ENSP00000428492:S44N;ENSP00000341189:S379N;ENSP00000445742:S40N;ENSP00000429129:S423N;ENSP00000430603:S43N	ENSP00000341189:S379N	S	-	2	0	PTK2	141868796	0.889000	0.30405	0.995000	0.50966	0.969000	0.65631	1.303000	0.33470	1.599000	0.50093	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	1	0	1	172	792	0	187	1	1	45	95	0	187	2		0	0	0	0	0	2	1	1	171	778	0	187	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTK2	5747	broad.mit.edu	37	8	141856698	141856698	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	PTK2_ENST00000340930.3_Splice_Site_p.R177Q|PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000535192.1_Splice_Site_p.R177Q|PTK2_ENST00000517887.1_Splice_Site_p.R221Q|PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2			48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)		ATCATCTTACCGTATTTCTAG	0.323000																								0							SO:0001630	splice_region_variant			ENST00000522684.1	1	0	hg19	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496021	0.96355	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000524357	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.03	5.35	5.35	0.76521	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.999;0.996;0.997;0.998	D	0.86495	0.1800	9	.	.	.	.	18.6889	0.91576	0.0:1.0:0.0:0.0	.	177;84;177;199;177;88	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	Q	177;177;221;177;87;177;84;177;221;92	ENSP00000429911:R177Q;ENSP00000438009:R177Q;ENSP00000429082:R221Q;ENSP00000429474:R177Q;ENSP00000378644:R177Q;ENSP00000341189:R177Q;ENSP00000429129:R221Q;ENSP00000429001:R92Q	.	R	-	2	0	PTK2	141925880	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.631000	0.74277	2.504000	0.84457	0.484000	0.47621	CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGG;CGA		TCGA-IB-7651-01A-11D-2154-08	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	1	0	1	39	237	0	55	1	9.999709e-01	12	87	0	55	2		0	0	0	0	0	2	1	1	38	230	0	52	2								-2.405271	0	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
DENND3	22898	broad.mit.edu	37	8	142146825	142146825	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146825A>C	ENST00000262585.2	+	2	358	c.80A>C	c.(79-81)gAg>gCg	p.E27A	DENND3_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000519811.1_Missense_Mutation_p.E107A|DENND3_ENST00000518347.1_Missense_Mutation_p.E107A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3			55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)		AGAGCGCCAGAGCCTGAGGAT	0.667000																								0							SO:0001583	missense			ENST00000262585.2	1	1	hg19	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.687|9.687	1.150839|1.150839	0.21371|0.21371	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058|ENST00000518668	T;T;T;T;T;T|.	0.40476|.	1.03;2.96;2.52;1.03;1.03;1.03|.	5.36|5.36	4.19|4.19	0.49359|0.49359	uDENN (1);|.	0.608859|.	0.17752|.	N|.	0.163199|.	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;P;B|.	0.38280|.	0.002;0.003;0.625;0.258|.	B;B;B;B|.	0.34931|.	0.002;0.006;0.192;0.098|.	T|T	0.19712|0.19712	-1.0297|-1.0297	10|5	0.21014|.	T|.	0.42|.	-0.9371|-0.9371	7.0187|7.0187	0.24902|0.24902	0.7747:0.1484:0.0768:0.0|0.7747:0.1484:0.0768:0.0	.|.	107;27;107;107|.	E9PF32;A2RUS2;E5RHH2;E5RIR7|.	.;DEND3_HUMAN;.;.|.	A|S	40;107;27;27;107;107;107|83	ENSP00000430695:E107A;ENSP00000262585:E27A;ENSP00000410594:E27A;ENSP00000428714:E107A;ENSP00000429780:E107A;ENSP00000430786:E107A|.	ENSP00000262585:E27A|.	E|R	+|+	2|3	0|2	DENND3|DENND3	142216007|142216007	0.764000|0.764000	0.28473|0.28473	0.013000|0.013000	0.15412|0.15412	0.003000|0.003000	0.03518|0.03518	1.801000|1.801000	0.38843|0.38843	0.857000|0.857000	0.35407|0.35407	0.528000|0.528000	0.53228|0.53228	GAG|AGA		TCGA-IB-7651-01A-11D-2154-08	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	21	77	0	12	1	9.903684e-01	4	27	0	12	2		0	0	0	0	0	2	1	9.999988e-01	20	76	0	12	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
DENND3	22898	broad.mit.edu	37	8	142146842	142146842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146842G>A	ENST00000262585.2	+	2	375	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	DENND3_ENST00000424248.1_Missense_Mutation_p.V33I|DENND3_ENST00000519811.1_Missense_Mutation_p.V113I|DENND3_ENST00000518347.1_Missense_Mutation_p.V113I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3			55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)		GGATGTCGCCGTCCCGGGCGG	0.687000																								0							SO:0001583	missense			ENST00000262585.2	1	1	hg19	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.338|0.338	-0.952181|-0.952181	0.02285|0.02285	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.|T;T;T;T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.61|5.61	-2.87|-2.87	0.05700|0.05700	.|uDENN (1);	.|0.737094	.|0.13752	.|N	.|0.365220	T|T	0.23133|0.23133	0.0559|0.0559	N|N	0.02247|0.02247	-0.625|-0.625	0.09310|0.09310	N|N	0.99999|0.99999	.|B;B;B;B	.|0.26258	.|0.145;0.087;0.021;0.06	.|B;B;B;B	.|0.25614	.|0.062;0.034;0.013;0.009	T|T	0.21965|0.21965	-1.0230|-1.0230	5|10	.|0.11182	.|T	.|0.66	-2.4659|-2.4659	14.6426|14.6426	0.68737|0.68737	0.4152:0.0:0.5848:0.0|0.4152:0.0:0.5848:0.0	.|.	.|113;33;113;113	.|E9PF32;A2RUS2;E5RHH2;E5RIR7	.|.;DEND3_HUMAN;.;.	H|I	89|46;113;33;33;113;113;113	.|ENSP00000430625:V46I;ENSP00000430695:V113I;ENSP00000262585:V33I;ENSP00000410594:V33I;ENSP00000428714:V113I;ENSP00000429780:V113I;ENSP00000430786:V113I	.|ENSP00000262585:V33I	R|V	+|+	2|1	0|0	DENND3|DENND3	142216024|142216024	0.014000|0.014000	0.17966|0.17966	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	0.016000|0.016000	0.13377|0.13377	-0.790000|-0.790000	0.04492|0.04492	-0.806000|-0.806000	0.03193|0.03193	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	21	60	0	11	1	9.997443e-01	10	34	0	11	2		0	0	0	0	0	2	1	9.999990e-01	21	58	0	11	2								-20.000000	1	0	120870	1	15	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
DENND3	22898	broad.mit.edu	37	8	142176355	142176355	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142176355G>A	ENST00000262585.2	+	12	1658	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	DENND3_ENST00000424248.1_Silent_p.S408S|DENND3_ENST00000519811.1_Silent_p.S540S	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3			55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)		GGAAGTCCTCGCACCTGCATG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000262585.2	1	1	hg19	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	4.540	0.100272	0.08731	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.12	-5.67	0.02444	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-11.8227	2.3262	0.04223	0.4485:0.2889:0.1156:0.147	.	.	.	.	T	465	.	.	A	+	1	0	DENND3	142245537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.629000	0.05508	-1.175000	0.02751	-1.020000	0.02445	GCA		TCGA-IB-7651-01A-11D-2154-08	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	153	788	0	223	1	9.999901e-01	10	74	0	223	2		0	0	0	0	0	2	1	1	149	775	1	222	15								-3.076550	1	1	121412	3	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DENND3	22898	broad.mit.edu	37	8	142178477	142178477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142178477G>A	ENST00000262585.2	+	13	2166	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	DENND3_ENST00000424248.1_Missense_Mutation_p.E578K|DENND3_ENST00000519811.1_Missense_Mutation_p.E710K	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3			55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)		CAAGCCGCACGAGGCCTCGAA	0.612000																								0							SO:0001583	missense			ENST00000262585.2	1	1	hg19	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.804188|2.804188	0.50315|0.50315	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.15372|.	2.87;2.43;2.86|.	5.56|5.56	4.67|4.67	0.58626|0.58626	.|.	0.198521|.	0.52532|.	D|.	0.000074|.	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.62723|0.62723	1.935|1.935	0.50467|0.50467	D|D	0.999878|0.999878	D;D;D|.	0.58620|.	0.971;0.983;0.971|.	B;P;B|.	0.50082|.	0.426;0.63;0.426|.	T|T	0.70809|0.70809	-0.4771|-0.4771	10|5	0.48119|.	T|.	0.1|.	-14.1069|-14.1069	16.2841|16.2841	0.82710|0.82710	0.0:0.1327:0.8673:0.0|0.0:0.1327:0.8673:0.0	.|.	710;578;630|.	E9PF32;A2RUS2-2;A2RUS2|.	.;.;DEND3_HUMAN|.	K|Q	630;578;710|634	ENSP00000262585:E630K;ENSP00000410594:E578K;ENSP00000428714:E710K|.	ENSP00000262585:E630K|.	E|R	+|+	1|2	0|0	DENND3|DENND3	142247659|142247659	1.000000|1.000000	0.71417|0.71417	0.099000|0.099000	0.21106|0.21106	0.030000|0.030000	0.12068|0.12068	6.746000|6.746000	0.74866|0.74866	1.312000|1.312000	0.45043|0.45043	0.462000|0.462000	0.41574|0.41574	GAG|CGA		TCGA-IB-7651-01A-11D-2154-08	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	95	397	0	98	1	9.999987e-01	11	72	0	98	2		0	0	0	0	0	2	1	1	92	382	0	92	2								-3.341494	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC45A4	57210	broad.mit.edu	37	8	142227289	142227289	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142227289C>T	ENST00000024061.3	-	5	1784		c.e5-1		SLC45A4_ENST00000517878.1_Splice_Site|SLC45A4_ENST00000519067.1_Splice_Site|SLC45A4_ENST00000433583.2_Splice_Site	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4			31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)		TCGAGGGGGCCTGTTCCGGAA	0.617000																								0							SO:0001630	splice_region_variant			ENST00000024061.3	1	1	hg19	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564260	0.45694	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7099	0.91652	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC45A4	142296471	1.000000	0.71417	0.995000	0.50966	0.208000	0.24298	7.494000	0.81503	2.420000	0.82092	0.491000	0.48974	.		TCGA-IB-7651-01A-11D-2154-08	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	1	0	1	62	249	0	64	1	9.963324e-01	34	3	0	64	2		0	0	0	0	0	2	1	1	61	246	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC45A4	57210	broad.mit.edu	37	8	142228354	142228354	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228354T>G	ENST00000024061.3	-	4	1539	c.1232A>C	c.(1231-1233)cAg>cCg	p.Q411P	SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P|SLC45A4_ENST00000519067.1_Missense_Mutation_p.Q411P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4			31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)		CTGCCGCTTCTGCATGTCGTA	0.687000																								0							SO:0001583	missense			ENST00000024061.3	1	1	hg19	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173901	0.57692	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.37	5.37	0.77165	.	0.060918	0.64402	D	0.000003	D	0.89598	0.6761	L	0.49350	1.555	0.49798	D	0.999829	B;B;B	0.20368	0.044;0.015;0.034	B;B;B	0.18871	0.01;0.023;0.023	D	0.86337	0.1702	10	0.41790	T	0.15	-42.0846	15.378	0.74630	0.0:0.0:0.0:1.0	.	462;411;411	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	P	411;462;404;411	ENSP00000429059:Q411P;ENSP00000428137:Q462P;ENSP00000400799:Q404P;ENSP00000024061:Q411P	ENSP00000024061:Q411P	Q	-	2	0	SLC45A4	142297536	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.538000	0.67193	2.051000	0.60960	0.459000	0.35465	CAG		TCGA-IB-7651-01A-11D-2154-08	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	1	0	1	52	252	0	60	1	9.193549e-01	10	13	0	60	2		0	0	0	0	0	2	1	1	51	248	0	59	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC45A4	57210	broad.mit.edu	37	8	142228381	142228381	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228381C>T	ENST00000024061.3	-	4	1512	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H|SLC45A4_ENST00000519067.1_Missense_Mutation_p.R402H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4			31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)		GCTCATGCTGCGCGACGGCTT	0.677000																								0							SO:0001583	missense			ENST00000024061.3	1	1	hg19	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103015	0.94245	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	M	0.68593	2.085	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.971;0.984;0.976	D	0.94106	0.7366	10	0.33940	T	0.23	-47.8602	19.116	0.93340	0.0:1.0:0.0:0.0	.	453;402;402	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	H	402;453;395;402	ENSP00000429059:R402H;ENSP00000428137:R453H;ENSP00000400799:R395H;ENSP00000024061:R402H	ENSP00000024061:R402H	R	-	2	0	SLC45A4	142297563	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	4.317000	0.59184	2.535000	0.85469	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	0	0	0	13	325	0	60	1	2.153362e-01	3	18	0	60	2		0	0	0	0	0	2	1	9.995121e-01	13	320	0	58	2								-13.547580	1	0	121184	1	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.450000	0.250000	0.720000	0.440000	0.471236	0.450000	0	3.400000e-01	5.900000e-01
SLC45A4	57210	broad.mit.edu	37	8	142228404	142228404	+	Silent	SNP	G	G	A	rs142808409		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228404G>A	ENST00000024061.3	-	4	1489	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	SLC45A4_ENST00000517878.1_Silent_p.A445A|SLC45A4_ENST00000519067.1_Silent_p.A394A|SLC45A4_ENST00000433583.2_Silent_p.A387A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4			31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)		TCAGCACCACGGCGTTGGCGC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000024061.3	0	1	hg19	CCDS34948.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	0	0	0	10	353	0	67	1	1.344678e-01	3	18	0	67	2		0	0	0	0	0	2	1	9.964704e-01	10	342	0	65	2								-3.250807	1	0	121148	7	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.320000	0.160000	0.550000	0.320000	0.345281	0.320000	0	2.300000e-01	4.400000e-01
SLC45A4	57210	broad.mit.edu	37	8	142228727	142228727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228727C>T	ENST00000024061.3	-	4	1166	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T|SLC45A4_ENST00000519067.1_Missense_Mutation_p.A287T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4			31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)		GGGTAGGAGGCGTCGTGGAAG	0.672000																								0							SO:0001583	missense			ENST00000024061.3	1	1	hg19	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031900	0.35893	0.0	1.16E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15139	2.48;2.47;2.47;2.45	5.75	1.28	0.21552	.	0.799963	0.11527	N	0.555059	T	0.10852	0.0265	L	0.47716	1.5	0.27514	N	0.951602	B;B;B	0.29037	0.024;0.231;0.01	B;B;B	0.14023	0.003;0.01;0.004	T	0.29822	-0.9999	10	0.17369	T	0.5	-17.9139	3.3128	0.07022	0.2097:0.5307:0.0963:0.1634	.	338;287;287	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	287;338;280;287	ENSP00000429059:A287T;ENSP00000428137:A338T;ENSP00000400799:A280T;ENSP00000024061:A287T	ENSP00000024061:A287T	A	-	1	0	SLC45A4	142297909	0.012000	0.17670	0.955000	0.39395	0.818000	0.46254	-0.201000	0.09464	0.663000	0.31027	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	1	0	1	73	464	0	78	1	9.968425e-01	13	44	0	78	2		0	0	0	0	0	2	1	1	72	455	0	78	2								-20.000000	1	1	121402	3	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
BAI1	575	broad.mit.edu	37	8	143603441	143603441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143603441G>A	ENST00000517894.1	+	21	4034	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1			57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)				CTCCGGAACCGCCTCATCCGC	0.657000																								0							SO:0001583	missense			ENST00000517894.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.9	4.474454	0.84640	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49720	0.77;0.77	3.78	3.78	0.43462	.	0.162599	0.41938	U	0.000782	T	0.52354	0.1729	L	0.46567	1.45	0.46131	D	0.99888	P	0.48016	0.904	P	0.51974	0.686	T	0.53823	-0.8384	10	0.42905	T	0.14	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1047	E9PBK0	.	H	1047	ENSP00000430945:R1047H;ENSP00000313046:R1047H	ENSP00000313046:R1047H	R	+	2	0	BAI1	143600443	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.699000	0.84547	1.641000	0.50575	0.305000	0.20034	CGC		TCGA-IB-7651-01A-11D-2154-08	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	1	0	1	62	170	0	32	0	7.270105e-02	0	2	0	32	2		0	0	0	0	0	2	1	1	62	166	0	31	2								-20.000000	1	1	121350	1	29	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAI1	575	broad.mit.edu	37	8	143607953	143607953	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143607953C>T	ENST00000517894.1	+	24	4257	c.3363C>T	c.(3361-3363)gaC>gaT	p.D1121D	BAI1_ENST00000323289.5_Silent_p.D1121D			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1			57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)				TGTCCAAAGACGGCATCACGG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000517894.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	1	0	1	17	97	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	9.999767e-01	17	96	0	18	2								-11.263340	1	1	120744	2	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998148	0.990000	1	9.900000e-01	1
ARC	23237	broad.mit.edu	37	8	143694703	143694703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143694703C>A	ENST00000356613.2	-	1	2130	c.930G>T	c.(928-930)caG>caT	p.Q310H	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein			13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)			CGTAGAGCGTCTGGTACAGGT	0.667000																								0							SO:0001583	missense			ENST00000356613.2	1	1	hg19	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098156	0.37048	.	.	ENSG00000198576	ENST00000356613	T	0.31769	1.48	4.75	4.75	0.60458	.	0.112617	0.38897	U	0.001539	T	0.18676	0.0448	N	0.12182	0.205	0.39006	D	0.959457	B	0.23650	0.089	B	0.26310	0.068	T	0.10268	-1.0637	10	0.29301	T	0.29	.	12.6204	0.56600	0.0:0.8332:0.1668:0.0	.	310	Q7LC44	ARC_HUMAN	H	310	ENSP00000349022:Q310H	ENSP00000349022:Q310H	Q	-	3	2	ARC	143691705	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.762000	0.38451	2.189000	0.69895	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2	0	0	1	69	262	0	49	0	1.975400e-01	1	3	0	49	2		0	0	0	0	0	2	1	1	66	252	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JRK	8629	broad.mit.edu	37	8	143747217	143747217	+	RNA	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143747217C>A	ENST00000507178.2	-	0	593							O75564	JERKY_HUMAN	Jrk homolog (mouse)				all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)			ggtccaggtgctccagcttgg	0.662000																								0											ENST00000507178.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	0	0	0	7	94	0	34	0	7.803105e-02	0	6	0	34	2		0	0	0	0	0	2	1	9.811946e-01	7	93	0	33	2								-12.092000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.810000	0.370000	1.000000	1.000000	0.795451	0.810000	0	5.600000e-01	1
LY6K	54742	broad.mit.edu	37	8	143781978	143781978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143781978C>T	ENST00000292430.6	+	1	450	c.33C>T	c.(31-33)gcC>gcT	p.A11A	LY6K_ENST00000518841.1_Silent_p.A11A|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000519387.1_Silent_p.A11A|LY6K_ENST00000522591.1_Silent_p.A11A			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K			10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				TGGTCGTGGCCCTACCGCGGG	0.701000																								0							SO:0001819	synonymous_variant			ENST00000292430.6	1	1	hg19	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	C	6.895	0.534679	0.13188	.	.	ENSG00000160886	ENST00000522591	.	.	.	1.81	0.905	0.19307	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	4.1569	0.10265	0.0:0.7807:0.0:0.2193	.	.	.	.	L	30	.	.	P	+	2	0	LY6K	143778980	0.009000	0.17119	0.005000	0.12908	0.045000	0.14185	0.541000	0.23207	0.321000	0.23259	0.305000	0.20034	CCC		TCGA-IB-7651-01A-11D-2154-08	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	1	0	0	11	50	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.988594e-01	11	50	0	16	2								-19.923770	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.980000	1.000000	1.000000	0.997128	0.990000	1	9.900000e-01	1
LYNX1	66004	broad.mit.edu	37	8	143857418	143857418	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143857418G>T	ENST00000335822.5	-	0	585				LYNX1_ENST00000523332.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000522906.1_Intron|LYNX1_ENST00000395192.2_De_novo_Start_OutOfFrame|LYNX1_ENST00000398906.1_De_novo_Start_OutOfFrame|LYNX1_ENST00000345173.6_De_novo_Start_OutOfFrame	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1			4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				GAGGTCAACAGCAGCTAGCCC	0.657000																								0											ENST00000335822.5	0	1	hg19	CCDS34951.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LYNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379786.3	0	0	0	17	107	0	17	0	7.025621e-01	1	16	0	17	2		0	0	0	0	0	2	1	9.999738e-01	17	105	0	17	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.950000	1.000000	1.000000	0.996461	0.990000	1	9.900000e-01	1
CYP11B1	1584	broad.mit.edu	37	8	143956537	143956537	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143956537G>A	ENST00000292427.4	-	8	1266	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	p.R412C(1)		67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)			Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GCGGGGTTGCGACCCAGAGAG	0.627000									Familial Hyperaldosteronism type I															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	ENST00000292427.4	1	1	hg19	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.126496	0.37533	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.74632	1.04;-0.86;-0.86	4.22	4.22	0.49857	.	0.000000	0.46442	D	0.000281	D	0.88672	0.6500	M	0.92122	3.275	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.963	D	0.91324	0.5084	10	0.66056	D	0.02	.	14.4165	0.67153	0.0:0.0:1.0:0.0	.	483;412;412	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	C	90;412;483	ENSP00000430144:R90C;ENSP00000292427:R412C;ENSP00000366903:R483C	ENSP00000292427:R412C	R	-	1	0	CYP11B1	143953539	1.000000	0.71417	0.440000	0.26846	0.064000	0.16182	3.671000	0.54576	2.059000	0.61396	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2	1	0	1	91	404	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	91	399	0	86	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LY6E	4061	broad.mit.edu	37	8	144102804	144102804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144102804C>T	ENST00000520466.1	+	4	529	c.126C>T	c.(124-126)tcC>tcT	p.S42S	LY6E_ENST00000517503.1_Nonsense_Mutation_p.R137*|LY6E_ENST00000519546.1_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000521003.1_Silent_p.S42S|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000522024.1_Silent_p.S42S|RP11-273G15.2_ENST00000502167.2_lincRNA|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000519611.1_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E			7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				CCATCTGCTCCGACCAGGACA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000520466.1	0	1	hg19	CCDS6394.1	.	.	.	.	.	.	.	.	.	.	c	8.332	0.826660	0.16749	.	.	ENSG00000160932	ENST00000522528;ENST00000521182	.	.	.	3.49	-6.98	0.01611	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.6254	0.8457	0.01161	0.2107:0.1548:0.3134:0.3211	.	.	.	.	X	31	.	ENSP00000430770:R31X	R	+	1	2	LY6E	144174179	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.481000	0.00456	-2.749000	0.00375	-0.793000	0.03317	CGA		TCGA-IB-7651-01A-11D-2154-08	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	0	0	0	19	344	0	76	1	1	233	2456	0	76	2		0	0	0	0	0	2	1	9.999892e-01	18	336	0	73	2								-2.746996	1	1	121412	8	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.610000	0.380000	0.900000	0.600000	0.627304	0.610000	0	4.800000e-01	7.600000e-01
C8orf31	286122	broad.mit.edu	37	8	144124636	144124636	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144124636G>T	ENST00000395172.1	+	3	495	c.143G>T	c.(142-144)aGg>aTg	p.R48M	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31			10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				GCATTGCAGAGGTCTCCCTTG	0.622000																								0							SO:0001583	missense			ENST00000395172.1	0	1	hg19	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	g	9.886	1.202848	0.22121	.	.	ENSG00000177335	ENST00000395172	T	0.56776	0.44	2.38	-0.493	0.12038	.	.	.	.	.	T	0.45716	0.1356	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.34825	-0.9813	9	0.87932	D	0	.	5.1229	0.14869	0.457:0.0:0.543:0.0	.	48	Q8N9H6	CH031_HUMAN	M	48	ENSP00000378601:R48M	ENSP00000378601:R48M	R	+	2	0	C8orf31	144196011	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-1.977000	0.01495	-0.126000	0.11682	0.435000	0.28638	AGG		TCGA-IB-7651-01A-11D-2154-08	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	1	0	0	9	171	0	33	0	1.054051e-01	1	9	0	33	2		0	0	0	0	0	2	1	9.945831e-01	9	171	0	33	2								-11.953520	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.590000	0.290000	1.000000	1.000000	0.616490	0.590000	0	4.200000e-01	8.000000e-01
LY6H	4062	broad.mit.edu	37	8	144240263	144240263	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144240263G>A	ENST00000430474.2	-	3	309	c.144C>T	c.(142-144)tcC>tcT	p.S48S	LY6H_ENST00000414417.2_Silent_p.S69S|LY6H_ENST00000342752.4_Silent_p.S69S	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H			4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				ACACCGTGTCGGACGGCTGGC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000430474.2	1	1	hg19	CCDS6396.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1	1	0	1	66	389	0	116	0	1.059194e-01	0	4	0	116	2		0	0	0	0	0	2	1	1	65	380	0	114	2								-2.842275	1	1	121406	5	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZFP41	286128	broad.mit.edu	37	8	144332465	144332465	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144332465C>T	ENST00000330701.4	+	2	821	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V|ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein			8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		TGCGGGAAAGCCTTTAACTGC	0.587000																								0							SO:0001583	missense			ENST00000330701.4	1	1	hg19	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122670	0.56613	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.36340	1.26;1.26;1.26	3.15	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	N	0.16368	0.405	0.09310	N	1	P	0.38551	0.636	B	0.35770	0.21	T	0.10222	-1.0639	9	0.49607	T	0.09	-9.3379	4.4941	0.11828	0.0:0.6351:0.232:0.1329	.	151	Q8N8Y5	ZFP41_HUMAN	V	151	ENSP00000430465:A151V;ENSP00000327427:A151V;ENSP00000428966:A151V	ENSP00000327427:A151V	A	+	2	0	ZFP41	144403840	0.011000	0.17503	0.241000	0.24154	0.960000	0.62799	0.660000	0.25009	0.647000	0.30713	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	0	0	1	130	713	1	177	1	9.615464e-01	13	18	1	177	2		0	0	0	0	0	2	1	1	129	702	1	173	17								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF696	79943	broad.mit.edu	37	8	144378799	144378799	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144378799G>T	ENST00000330143.3	+	3	1363	c.954G>T	c.(952-954)gaG>gaT	p.E318D		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696			8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		ACACCGGGGAGAAGCCCCACC	0.736000																								0							SO:0001583	missense			ENST00000330143.3	1	1	hg19	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811648	0.70797	.	.	ENSG00000185730	ENST00000330143	T	0.26810	1.71	2.97	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	L	0.46947	1.48	0.80722	D	1	P	0.35807	0.522	B	0.40199	0.322	T	0.03662	-1.1015	8	.	.	.	.	7.6192	0.28175	0.141:0.0:0.859:0.0	.	318	Q9H7X3	ZN696_HUMAN	D	318	ENSP00000328515:E318D	.	E	+	3	2	ZNF696	144450174	0.998000	0.40836	0.990000	0.47175	0.638000	0.38207	3.013000	0.49582	1.661000	0.50771	0.551000	0.68910	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	1	0	0	16	73	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999177e-01	16	65	0	18	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999379	0.990000	1	9.900000e-01	1
RHPN1	114822	broad.mit.edu	37	8	144463859	144463859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144463859G>A	ENST00000289013.6	+	13	1707	c.1606G>A	c.(1606-1608)Gct>Act	p.A536T		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1			9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		TGTCCTCATCGCTGCCGTCAT	0.706000																								0							SO:0001583	missense			ENST00000289013.6	1	0	hg19	CCDS47927.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	16.84	3.234645	0.58886	0.003223	0.0	ENSG00000158106	ENST00000289013	T	0.26223	1.75	4.83	3.96	0.45880	.	0.062452	0.64402	D	0.000005	T	0.17959	0.0431	N	0.11131	0.1	0.47374	D	0.999409	D	0.67145	0.996	P	0.60068	0.868	T	0.03354	-1.1045	10	0.22109	T	0.4	-1.6032	12.173	0.54169	0.0839:0.0:0.9161:0.0	.	536	Q8TCX5-2	.	T	536	ENSP00000289013:A536T	ENSP00000289013:A536T	A	+	1	0	RHPN1	144535002	1.000000	0.71417	0.374000	0.26016	0.918000	0.54935	4.383000	0.59600	1.029000	0.39812	0.456000	0.33151	GCT		TCGA-IB-7651-01A-11D-2154-08	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1	1	0	1	19	111	0	33	1	8.770196e-01	10	14	0	33	2		0	0	0	0	0	2	1	9.999924e-01	18	108	0	31	2								-4.312064	1	1	120652	47	44	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998551	0.990000	1	9.900000e-01	1
ZC3H3	23144	broad.mit.edu	37	8	144589969	144589969	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144589969C>T	ENST00000262577.5	-	4	1693	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3			23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		GGGGGAAGGGCGGGGCGCTGA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000262577.5	1	1	hg19	CCDS6402.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	1	0	1	55	394	0	69	1	9.989363e-01	21	54	0	69	2		0	0	0	0	0	2	1	1	55	387	0	66	2								-19.984320	1	1	121402	3	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999799	0.990000	1	9.900000e-01	1
GSDMD	79792	broad.mit.edu	37	8	144643581	144643581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144643581C>T	ENST00000526406.1	+	9	1607	c.724C>T	c.(724-726)Cca>Tca	p.P242S	GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S|GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D			12					GACCTTCCAGCCACCCGCGAC	0.617000																								0							SO:0001583	missense			ENST00000526406.1	1	1	hg19	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	3.900	-0.022276	0.07634	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580;ENST00000534018	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.64	-0.515	0.11954	.	2.577270	0.01232	N	0.008370	T	0.15003	0.0362	L	0.41573	1.285	0.09310	N	1	B;B;B	0.25312	0.057;0.057;0.123	B;B;B	0.24974	0.056;0.056;0.057	T	0.09818	-1.0657	10	0.09084	T	0.74	-1.1727	2.3156	0.04198	0.1936:0.3621:0.3335:0.1108	.	242;242;290	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	S	242;290;242;258	ENSP00000433209:P242S;ENSP00000433958:P290S;ENSP00000262580:P242S;ENSP00000436684:P258S	ENSP00000262580:P242S	P	+	1	0	GSDMD	144714724	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-0.230000	0.09083	-0.115000	0.11915	0.637000	0.83480	CCA		TCGA-IB-7651-01A-11D-2154-08	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	1	0	1	21	60	0	23	1	1	69	283	0	23	2		0	0	0	0	0	2	1	9.999992e-01	21	59	0	23	2								-20.000000	1	0	121006	1	28	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
EEF1D	1936	broad.mit.edu	37	8	144663295	144663295	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144663295T>C	ENST00000529272.1	-	5	719	c.319A>G	c.(319-321)Aag>Gag	p.K107E	EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E|NAPRT1_ENST00000435154.3_5'Flank|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000532741.1_Missense_Mutation_p.K523E|EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E|NAPRT1_ENST00000449291.2_5'Flank			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)			14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		GCCTCCAGCTTGGAGATGGCC	0.692000																								0							SO:0001583	missense			ENST00000529272.1	1	1	hg19	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418226	0.83449	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749	.	.	.	4.8	3.62	0.41486	.	0.093320	0.64402	D	0.000001	T	0.75488	0.3856	M	0.85197	2.74	0.48452	D	0.999657	B;B;D;B;D;P	0.62365	0.031;0.267;0.99;0.148;0.991;0.528	B;B;P;B;P;B	0.59357	0.023;0.118;0.856;0.046;0.792;0.234	T	0.75947	-0.3138	9	0.48119	T	0.1	.	9.989	0.41858	0.0:0.0:0.1702:0.8298	.	88;473;401;107;523;473	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	E	107;523;88;473;83;107;107;473;401;107;473;64;83;107;83;107;107;107;107;107;88;123	.	ENSP00000317399:K107E	K	-	1	0	EEF1D	144734438	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	2.572000	0.45999	0.782000	0.33613	0.374000	0.22700	AAG		TCGA-IB-7651-01A-11D-2154-08	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	1	0	0	23	368	0	66	1	1	54	2230	0	66	2		0	0	0	0	0	2	1	9.999994e-01	23	365	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.680000	0.440000	0.970000	0.670000	0.698872	0.680000	0	5.500000e-01	8.300000e-01
TSTA3	7264	broad.mit.edu	37	8	144695733	144695733	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144695733C>T	ENST00000425753.2	-	9	874	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TSTA3_ENST00000529064.1_Silent_p.E257E	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B			9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		CCACCACCGCCTCGGCTGCCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000425753.2	1	1	hg19	CCDS6408.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	0	0	0	20	118	0	28	1	1	93	215	0	28	2		0	0	0	0	0	2	1	9.999962e-01	19	115	0	28	2								-3.344146	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998714	0.990000	1	9.900000e-01	1
ZNF623	9831	broad.mit.edu	37	8	144732313	144732313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144732313G>T	ENST00000501748.2	+	1	360	c.271G>T	c.(271-273)Gga>Tga	p.G91*	ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623			27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		GATCCAGACAGGAGAGACAGC	0.532000																								0							SO:0001587	stop_gained			ENST00000501748.2	0	1	hg19	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	37	6.026268	0.97216	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	.	.	.	4.35	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5066	12.372	0.55260	0.0:0.1714:0.8286:0.0	.	.	.	.	X	51;51;51;91;91	.	ENSP00000330358:G51X	G	+	1	0	ZNF623	144803456	0.940000	0.31905	0.968000	0.41197	0.548000	0.35241	1.416000	0.34759	1.185000	0.42971	-0.150000	0.13652	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	1	0	0	101	464	0	114	1	9.994773e-01	23	30	0	114	2		0	0	0	0	0	2	1	1	98	454	0	114	2								-3.192509	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF707	286075	broad.mit.edu	37	8	144776463	144776463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144776463C>T	ENST00000532205.1	+	8	1778	c.879C>T	c.(877-879)tgC>tgT	p.C293C	ZNF707_ENST00000532158.1_Silent_p.C293C|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Silent_p.C293C|ZNF707_ENST00000454097.1_Silent_p.C293C|ZNF707_ENST00000418203.2_Silent_p.C293C			Q96C28	ZN707_HUMAN	zinc finger protein 707			1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		GCGCGGACTGCGGCAAAGCCT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000532205.1	1	1	hg19	CCDS47932.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	1	0	1	22	88	0	28	1	9.936370e-01	4	32	0	28	2		0	0	0	0	0	2	1	9.999993e-01	22	85	0	28	2								-20.000000	1	1	121066	2	25	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
MAPK15	225689	broad.mit.edu	37	8	144800977	144800977	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144800977G>A	ENST00000338033.4	+	5	438	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S|MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15			12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		CCGGAAGGGCGGCCTGCTGCA	0.682000																								0							SO:0001583	missense			ENST00000338033.4	1	1	hg19	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	11.29	1.593734	0.28445	2.27E-4	0.0	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.47177	0.85;0.85;0.85	4.26	-6.0	0.02206	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.198720	0.06357	N	0.710919	T	0.29524	0.0736	L	0.37561	1.115	0.09310	N	1	B	0.22851	0.076	B	0.17722	0.019	T	0.21075	-1.0256	10	0.35671	T	0.21	.	3.4777	0.07590	0.4302:0.0:0.3001:0.2696	.	107	Q8TD08	MK15_HUMAN	S	107;124;107	ENSP00000337691:G107S;ENSP00000378539:G124S;ENSP00000378540:G107S	ENSP00000337691:G107S	G	+	1	0	MAPK15	144872965	0.002000	0.14202	0.001000	0.08648	0.248000	0.25809	1.409000	0.34680	-0.901000	0.03891	0.431000	0.28591	GGC		TCGA-IB-7651-01A-11D-2154-08	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	1	0	0	28	115	0	21	1	3.446118e-01	4	2	0	21	2		0	0	0	0	0	2	1	1	28	114	0	20	2								-20.000000	1	1	121124	5	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
MAPK15	225689	broad.mit.edu	37	8	144801568	144801568	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144801568C>T	ENST00000338033.4	+	7	756	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W|MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15			12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		GGAGATGCTGCGGGGGAGACC	0.647000																								0							SO:0001583	missense			ENST00000338033.4	1	1	hg19	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	18.25	3.583449	0.65992	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.43688	0.94;0.94;0.94	4.14	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.233835	0.36134	N	0.002761	T	0.57184	0.2036	L	0.59436	1.845	0.32909	D	0.514219	D	0.89917	1.0	D	0.74348	0.983	T	0.67440	-0.5670	10	0.56958	D	0.05	-14.6158	13.9176	0.63908	0.0:0.561:0.439:0.0	.	213	Q8TD08	MK15_HUMAN	W	213;230;213	ENSP00000337691:R213W;ENSP00000378539:R230W;ENSP00000378540:R213W	ENSP00000337691:R213W	R	+	1	2	MAPK15	144873556	0.112000	0.22096	0.564000	0.28396	0.677000	0.39632	1.434000	0.34958	0.008000	0.14787	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	1	0	1	39	210	0	34	1	2.466334e-01	2	4	0	34	2		0	0	0	0	0	2	1	1	39	204	0	34	2								-3.338945	1	1	121396	7	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
FAM83H	286077	broad.mit.edu	37	8	144808550	144808550	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144808550C>T	ENST00000388913.3	-	5	3206	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H			21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		AGGCGTTGGCCGTGGCTGAGG	0.682000																								0							SO:0001819	synonymous_variant			ENST00000388913.3	0	1	hg19	CCDS6410.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	0	0	0	7	96	0	14	1	9.836651e-01	13	93	0	14	2		0	0	0	0	0	2	1	9.811800e-01	7	95	0	13	2								-11.599160	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.800000	0.360000	1.000000	1.000000	0.785958	0.800000	0	5.500000e-01	1
FAM83H	286077	broad.mit.edu	37	8	144810228	144810228	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144810228C>T	ENST00000388913.3	-	5	1528	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H			21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		GCCTTGCGGGCGCGCCGGCGT	0.706000																								0							SO:0001583	missense			ENST00000388913.3	0	1	hg19	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	N	14.37	2.515846	0.44763	.	.	ENSG00000180921	ENST00000388913	T	0.17370	2.28	4.87	4.87	0.63330	.	0.336100	0.23452	U	0.048022	T	0.31606	0.0802	L	0.34521	1.04	0.21105	N	0.99979	D	0.89917	1.0	D	0.68621	0.959	T	0.09015	-1.0694	10	0.87932	D	0	.	16.9983	0.86375	0.0:1.0:0.0:0.0	.	468	Q6ZRV2	FA83H_HUMAN	H	468	ENSP00000373565:R468H	ENSP00000373565:R468H	R	-	2	0	FAM83H	144882216	0.590000	0.26815	0.971000	0.41717	0.114000	0.19823	2.320000	0.43797	2.234000	0.73211	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	0	0	0	11	239	0	28	0	1.604726e-01	1	14	0	28	2		0	0	0	0	0	2	1	9.983305e-01	10	237	0	28	2								-13.067900	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.520000	0.270000	0.850000	0.500000	0.541585	0.520000	0	3.800000e-01	6.900000e-01
FAM83H	286077	broad.mit.edu	37	8	144812445	144812445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812445G>A	ENST00000388913.3	-	2	433	c.308C>T	c.(307-309)gCc>gTc	p.A103V	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H			21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		CTCAGGCACGGCCTGGTCTGA	0.627000																								0							SO:0001583	missense			ENST00000388913.3	1	1	hg19	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	21.2	4.115005	0.77210	.	.	ENSG00000180921	ENST00000388913	T	0.11930	2.73	5.08	4.18	0.49190	.	0.059964	0.64402	D	0.000004	T	0.28499	0.0705	L	0.51422	1.61	0.37744	D	0.925714	D	0.63880	0.993	D	0.63381	0.914	T	0.09122	-1.0689	10	0.52906	T	0.07	.	14.1178	0.65167	0.0:0.0:0.8485:0.1515	.	103	Q6ZRV2	FA83H_HUMAN	V	103	ENSP00000373565:A103V	ENSP00000373565:A103V	A	-	2	0	FAM83H	144884433	1.000000	0.71417	0.943000	0.38184	0.946000	0.59487	3.843000	0.55865	1.242000	0.43836	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	1	0	1	35	314	0	61	1	9.999998e-01	48	173	0	61	2		0	0	0	0	0	2	1	1	34	310	0	61	2								-20.000000	1	1	121006	1	28	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.830000	1.000000	1.000000	0.985090	0.990000	1	9.800000e-01	1
FAM83H	286077	broad.mit.edu	37	8	144812742	144812742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812742C>T	ENST00000388913.3	-	2	136	c.11G>A	c.(10-12)cGc>cAc	p.R4H	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H			21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		GCTCTGAGAGCGACGGGCCAT	0.662000																								0							SO:0001583	missense			ENST00000388913.3	0	1	hg19	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	31	5.103443	0.94245	.	.	ENSG00000180921	ENST00000388913	T	0.31769	1.48	4.62	4.62	0.57501	.	0.238609	0.34314	N	0.004066	T	0.53802	0.1819	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58526	-0.7621	10	0.87932	D	0	.	16.8086	0.85712	0.0:1.0:0.0:0.0	.	4	Q6ZRV2	FA83H_HUMAN	H	4	ENSP00000373565:R4H	ENSP00000373565:R4H	R	-	2	0	FAM83H	144884730	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.719000	0.68462	2.285000	0.76669	0.478000	0.44815	CGC		TCGA-IB-7651-01A-11D-2154-08	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	1	0	1	22	126	0	20	1	9.999706e-01	45	59	0	20	2		0	0	0	0	0	2	1	9.999992e-01	22	125	0	20	2								-20.000000	1	1	118622	3	28	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999314	0.990000	1	9.900000e-01	1
SCRIB	23513	broad.mit.edu	37	8	144885613	144885613	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144885613G>A	ENST00000320476.3	-	24	3549	c.3543C>T	c.(3541-3543)ggC>ggT	p.G1181G	SCRIB_ENST00000356994.2_Silent_p.G1181G|SCRIB_ENST00000377533.3_Silent_p.G1100G	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein			42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		TGAGGGTGTCGCCCACACTGC	0.701000													Pancreas(51;966 1133 10533 14576 29674)											0							SO:0001819	synonymous_variant			ENST00000320476.3	1	1	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.372995	0.05034	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.82	-3.59	0.04583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2487	0.01978	0.3264:0.2015:0.3352:0.137	.	.	.	.	X	177	.	.	R	-	1	2	SCRIB	144957601	0.000000	0.05858	0.972000	0.41901	0.088000	0.18126	-3.061000	0.00623	-0.478000	0.06823	-0.518000	0.04402	CGA		TCGA-IB-7651-01A-11D-2154-08	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	1	0	0	17	78	0	20	1	9.994899e-01	31	32	0	20	2		0	0	0	0	0	2	1	9.999770e-01	17	76	0	20	2								-20.000000	1	1	120150	7	33	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999523	0.990000	1	9.900000e-01	1
SCRIB	23513	broad.mit.edu	37	8	144890804	144890804	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890804G>A	ENST00000320476.3	-	15	2096	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	SCRIB_ENST00000356994.2_Missense_Mutation_p.A697V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein			42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		AGAAACCACGGCCCCCTCCTT	0.637000													Pancreas(51;966 1133 10533 14576 29674)											0							SO:0001583	missense			ENST00000320476.3	1	1	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.303627	0.40795	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.37058	1.45;1.42;1.22;1.91	4.2	2.34	0.29019	.	.	.	.	.	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	0.999991	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.23691	-1.0181	9	0.26408	T	0.33	.	6.0112	0.19578	0.1011:0.0:0.7118:0.1871	.	697;697	Q14160;Q14160-3	SCRIB_HUMAN;.	V	697;697;616;66;15	ENSP00000349486:A697V;ENSP00000322938:A697V;ENSP00000366756:A616V;ENSP00000433546:A15V	ENSP00000322938:A697V	A	-	2	0	SCRIB	144962792	0.139000	0.22563	0.001000	0.08648	0.412000	0.31113	2.734000	0.47368	0.342000	0.23796	0.401000	0.26515	GCC		TCGA-IB-7651-01A-11D-2154-08	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	1	0	1	44	199	0	29	1	9.999989e-01	27	71	0	29	2		0	0	0	0	0	2	1	1	44	197	0	29	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCRIB	23513	broad.mit.edu	37	8	144893409	144893409	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144893409C>A	ENST00000320476.3	-	10	1019	c.1013G>T	c.(1012-1014)aGc>aTc	p.S338I	SCRIB_ENST00000356994.2_Missense_Mutation_p.S338I|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein			42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		GGAGAGGACGCTGAGTGCCAC	0.672000													Pancreas(51;966 1133 10533 14576 29674)											0							SO:0001583	missense			ENST00000320476.3	1	1	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854506	0.17106	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.52295	2.24;0.67;1.85	3.28	1.39	0.22231	.	.	.	.	.	T	0.31670	0.0804	N	0.20328	0.56	0.32440	N	0.546881	P;P	0.43973	0.725;0.823	B;B	0.43838	0.347;0.433	T	0.43393	-0.9394	9	0.72032	D	0.01	.	4.1911	0.10421	0.0:0.5296:0.2014:0.2691	.	338;338	Q14160;Q14160-3	SCRIB_HUMAN;.	I	338;338;257	ENSP00000349486:S338I;ENSP00000322938:S338I;ENSP00000366756:S257I	ENSP00000322938:S338I	S	-	2	0	SCRIB	144965397	0.998000	0.40836	0.056000	0.19401	0.002000	0.02628	3.038000	0.49783	0.694000	0.31654	-0.302000	0.09304	AGC		TCGA-IB-7651-01A-11D-2154-08	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	1	0	1	19	84	0	16	1	9.999680e-01	32	52	0	16	2		0	0	0	0	0	2	1	9.999944e-01	19	82	0	14	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999790	0.990000	1	9.900000e-01	1
PUF60	22827	broad.mit.edu	37	8	144899948	144899948	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144899948G>A	ENST00000526683.1	-	9	1377	c.822C>T	c.(820-822)taC>taT	p.Y274Y	PUF60_ENST00000349157.6_Silent_p.Y257Y|SCRIB_ENST00000320476.3_5'Flank|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000313352.7_Silent_p.Y214Y|PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Silent_p.Y245Y|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000527197.1_Silent_p.Y228Y	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa			14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		GGGCCTTCTCGTACTCTGTGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000526683.1	1	1	hg19	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174581	0.09391	0.0	2.35E-4	ENSG00000179950	ENST00000532884;ENST00000527744	.	.	.	3.92	-1.58	0.08479	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48896	-0.8994	4	.	.	.	.	9.2127	0.37328	0.7488:0.0:0.2512:0.0	.	.	.	.	M	144;272	.	.	T	-	2	0	PUF60	144971936	0.069000	0.21087	0.994000	0.49952	0.853000	0.48598	-0.440000	0.06888	-0.350000	0.08262	-1.119000	0.02030	ACG		TCGA-IB-7651-01A-11D-2154-08	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	1	0	1	26	96	0	20	1	1	127	321	0	20	2		0	0	0	0	0	2	1	1	26	92	0	20	2								-20.000000	1	1	120690	4	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
NRBP2	340371	broad.mit.edu	37	8	144919856	144919856	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144919856G>A	ENST00000442628.2	-	11	1051	c.912C>T	c.(910-912)cgC>cgT	p.R304R	NRBP2_ENST00000327830.5_Silent_p.R61R	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2			5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		CGAAGAGCACGCGGTGGAAGA	0.692000																								0							SO:0001819	synonymous_variant			ENST00000442628.2	0	1	hg19	CCDS34959.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	0	0	0	6	42	0	11	1	9.912810e-01	23	46	0	11	2	0	0	0	1	0	0	2	1	9.683490e-01	6	42	0	11	2								-12.489070	1	1	119688	24	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.590000	1.000000	1.000000	0.957079	0.990000	1	9.100000e-01	1
EPPK1	83481	broad.mit.edu	37	8	144940360	144940360	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940360G>A	ENST00000525985.1	-	2	7133	c.7062C>T	c.(7060-7062)agC>agT	p.S2354S				P58107	EPIPL_HUMAN	epiplakin 1			71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		GCACGCGGTGGCTGTGCACGG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000525985.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	0	0	0	62	2713	0	462	1	4.486425e-01	5	62	0	462	2		0	0	0	0	0	2	1	1	55	2390	0	507	2								-3.322386	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.250000	0.190000	0.330000	0.260000	0.263223	0.250000	0	2.200000e-01	3.000000e-01
EPPK1	83481	broad.mit.edu	37	8	144940647	144940647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940647C>A	ENST00000525985.1	-	2	6846	c.6775G>T	c.(6775-6777)Gcc>Tcc	p.A2259S				P58107	EPIPL_HUMAN	epiplakin 1			71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		AGCACCAGGGCCGTGCCGGGC	0.726000																								0							SO:0001583	missense			ENST00000525985.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.8	4.051270	0.75960	0.0	4.71E-4	ENSG00000227184	ENST00000525985	T	0.76709	-1.04	4.67	4.67	0.58626	.	.	.	.	.	D	0.86973	0.6062	M	0.70787	2.145	0.26347	N	0.977271	D	0.56968	0.978	D	0.73380	0.98	T	0.79347	-0.1841	9	0.56958	D	0.05	.	15.1226	0.72457	0.0:1.0:0.0:0.0	.	2259	E9PPU0	.	S	2259	ENSP00000436337:A2259S	ENSP00000436337:A2259S	A	-	1	0	EPPK1	145012635	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	3.203000	0.51075	2.420000	0.82092	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	0	0	0	14	556	0	94	1	4.508088e-01	5	54	0	94	2		0	0	0	0	0	2	1	9.994449e-01	11	495	0	68	2								-3.380677	1	0	120336	1	44	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.280000	0.160000	0.460000	0.280000	0.302041	0.280000	0	2.200000e-01	3.800000e-01
EPPK1	83481	broad.mit.edu	37	8	144940665	144940665	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940665C>T	ENST00000525985.1	-	2	6828	c.6757G>A	c.(6757-6759)Gtg>Atg	p.V2253M				P58107	EPIPL_HUMAN	epiplakin 1			71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		GGCCGCAGCACGCCCTTCCAC	0.716000																								0							SO:0001583	missense			ENST00000525985.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.21	3.058856	0.55325	.	.	ENSG00000227184	ENST00000525985	T	0.73789	-0.78	4.67	-4.14	0.03892	.	.	.	.	.	T	0.70518	0.3233	N	0.17474	0.49	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.63954	-0.6520	9	0.41790	T	0.15	.	9.438	0.38650	0.0:0.162:0.6285:0.2095	.	2253	E9PPU0	.	M	2253	ENSP00000436337:V2253M	ENSP00000436337:V2253M	V	-	1	0	EPPK1	145012653	0.000000	0.05858	0.819000	0.32651	0.999000	0.98932	-1.087000	0.03383	-0.705000	0.05035	0.591000	0.81541	GTG		TCGA-IB-7651-01A-11D-2154-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	0	0	0	14	609	0	92	1	5.906727e-01	4	81	0	92	2		0	0	0	0	0	2	1	9.996677e-01	12	584	0	78	2								-3.285228	1	0	120788	21	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.260000	0.140000	0.420000	0.260000	0.276646	0.260000	0	2.000000e-01	3.400000e-01
EPPK1	83481	broad.mit.edu	37	8	144942172	144942172	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144942172G>A	ENST00000525985.1	-	2	5321	c.5250C>T	c.(5248-5250)ccC>ccT	p.P1750P				P58107	EPIPL_HUMAN	epiplakin 1	p.P1750P(1)		71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		GGCCCGTCTCGGGGTCCTCCA	0.547000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000525985.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	1	0	1	92	405	0	99	1	9.979038e-01	15	28	0	99	2		0	0	0	0	0	2	1	1	89	400	0	97	2								-2.563249	1	1	120904	22	44	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPPK1	83481	broad.mit.edu	37	8	144943253	144943253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144943253C>T	ENST00000525985.1	-	2	4240	c.4169G>A	c.(4168-4170)aGc>aAc	p.S1390N				P58107	EPIPL_HUMAN	epiplakin 1			71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		CAGCACCTGGCTCGTCTGTGT	0.647000																								0							SO:0001583	missense			ENST00000525985.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.287631	0.00248	.	.	ENSG00000227184	ENST00000525985	T	0.73152	-0.72	4.66	-2.64	0.06114	.	.	.	.	.	T	0.39462	0.1079	N	0.05383	-0.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	9	0.22706	T	0.39	.	0.3204	0.00302	0.2544:0.2566:0.2497:0.2394	.	1390	E9PPU0	.	N	1390	ENSP00000436337:S1390N	ENSP00000436337:S1390N	S	-	2	0	EPPK1	145015241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.140000	0.16056	-0.376000	0.07943	-0.137000	0.14449	AGC		TCGA-IB-7651-01A-11D-2154-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	1	0	1	41	158	0	30	1	9.724270e-01	8	17	0	30	2		0	0	0	0	0	2	1	1	41	155	0	30	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPPK1	83481	broad.mit.edu	37	8	144945010	144945010	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144945010C>T	ENST00000525985.1	-	2	2483	c.2412G>A	c.(2410-2412)ccG>ccA	p.P804P				P58107	EPIPL_HUMAN	epiplakin 1			71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		TGTCCACCAGCGGGGACTGCG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000525985.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	1	0	0	24	263	0	56	1	6.161447e-01	4	20	0	56	2		0	0	0	0	0	2	1	9.999996e-01	22	257	0	52	2								-20.000000	1	1	120940	9	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.960000	0.640000	1.000000	1.000000	0.918429	0.960000	1	7.900000e-01	1
EPPK1	83481	broad.mit.edu	37	8	144947078	144947078	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144947078G>T	ENST00000525985.1	-	2	415	c.344C>A	c.(343-345)gCt>gAt	p.A115D				P58107	EPIPL_HUMAN	epiplakin 1			71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		GGCACGCTCAGCGGCCAGCAG	0.687000																								0							SO:0001583	missense			ENST00000525985.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.71	3.197863	0.58126	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.44	4.44	0.53790	.	.	.	.	.	D	0.88055	0.6334	M	0.83774	2.66	0.43308	D	0.99531	D	0.89917	1.0	D	0.80764	0.994	D	0.89571	0.3813	9	0.62326	D	0.03	.	14.5862	0.68326	0.0:0.0:1.0:0.0	.	115	E9PPU0	.	D	115	ENSP00000436337:A115D	ENSP00000436337:A115D	A	-	2	0	EPPK1	145019066	1.000000	0.71417	0.105000	0.21289	0.010000	0.07245	7.583000	0.82559	2.304000	0.77564	0.407000	0.27541	GCT		TCGA-IB-7651-01A-11D-2154-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	1	0	1	47	240	0	48	1	7.631185e-01	9	7	0	48	2		0	0	0	0	0	2	1	1	46	237	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144991209	144991209	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991209G>A	ENST00000322810.4	-	32	13360	c.13191C>T	c.(13189-13191)ccC>ccT	p.P4397P	PLEC_ENST00000436759.2_Silent_p.P4287P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000357649.2_Silent_p.P4264P|PLEC_ENST00000354958.2_Silent_p.P4238P|PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000398774.2_Silent_p.P4228P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					TGGAGACGGCGGGGCTGATGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000322810.4	1	1	hg19	CCDS43772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	35	357	0	52	1	1	45	363	0	52	2		0	0	0	0	0	2	1	1	34	347	0	52	2								-2.744762	1	1	120872	3	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.740000	1.000000	1.000000	0.956012	0.990000	1	8.700000e-01	1
PLEC	5339	broad.mit.edu	37	8	144991545	144991545	+	Silent	SNP	C	C	T	rs143548638	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991545C>T	ENST00000322810.4	-	32	13024	c.12855G>A	c.(12853-12855)acG>acA	p.T4285T	PLEC_ENST00000436759.2_Silent_p.T4175T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000357649.2_Silent_p.T4152T|PLEC_ENST00000354958.2_Silent_p.T4126T|PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000398774.2_Silent_p.T4116T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					TCTCCTTGCCCGTCTCGGGGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000322810.4	1	1	hg19	CCDS43772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	71	330	0	71	1	1	81	394	0	71	2		0	0	0	0	0	2	1	1	71	329	0	71	2								-2.881946	1	0	121104	21	44	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144991599	144991599	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991599C>T	ENST00000322810.4	-	32	12970	c.12801G>A	c.(12799-12801)acG>acA	p.T4267T	PLEC_ENST00000436759.2_Silent_p.T4157T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000357649.2_Silent_p.T4134T|PLEC_ENST00000354958.2_Silent_p.T4108T|PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000398774.2_Silent_p.T4098T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					ACTTGGAGGACGTCTTCCGCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000322810.4	1	1	hg19	CCDS43772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0	24	354	0	66	1	1	44	512	0	66	2		0	0	0	0	0	2	1	9.999997e-01	23	352	0	65	2								-16.591070	1	0	121020	14	44	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.730000	0.480000	1.000000	1.000000	0.750069	0.730000	0	6.000000e-01	8.900000e-01
PLEC	5339	broad.mit.edu	37	8	144991705	144991705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991705G>A	ENST00000322810.4	-	32	12864	c.12695C>T	c.(12694-12696)aCg>aTg	p.T4232M	PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					GTTCTCCTCCGTGTTAGGGTC	0.607000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034364	0.35893	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000005	D	0.90896	0.7139	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.92048	0.5646	10	0.87932	D	0	.	18.4072	0.90539	0.0:0.0:1.0:0.0	.	4122;4081;4073;4232;4063;4095;4099;4095	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	4095;4099;4095;4063;4232;4073;4081;4122;4118	ENSP00000344848:T4095M;ENSP00000350277:T4099M;ENSP00000346602:T4095M;ENSP00000381756:T4063M;ENSP00000323856:T4232M;ENSP00000347044:T4073M;ENSP00000348702:T4081M;ENSP00000388180:T4122M;ENSP00000434583:T4118M	ENSP00000323856:T4232M	T	-	2	0	PLEC	145063693	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.595000	0.98260	2.679000	0.91253	0.549000	0.68633	ACG		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	0	1	96	423	1	82	1	1	98	414	1	82	20		0	0	0	0	0	2	1	1	96	415	1	82	20								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					CCGGAGCAGGTTGTAGGTCTC	0.657000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460107	0.26248	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.25	1.7	0.24286	.	0.081077	0.47093	N	0.000254	T	0.60392	0.2265	M	0.65498	2.005	0.39526	D	0.968589	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.55140	-0.8187	10	0.40728	T	0.16	.	9.5558	0.39337	0.0:0.1089:0.0:0.8911	.	3691;3650;3642;3801;3632;3664;3668;3664	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3664;3668;3664;3632;3801;3642;3650;3691;3687	ENSP00000344848:N3664S;ENSP00000350277:N3668S;ENSP00000346602:N3664S;ENSP00000381756:N3632S;ENSP00000323856:N3801S;ENSP00000347044:N3642S;ENSP00000348702:N3650S;ENSP00000388180:N3691S;ENSP00000434583:N3687S	ENSP00000323856:N3801S	N	-	2	0	PLEC	145064986	1.000000	0.71417	0.940000	0.37924	0.948000	0.59901	1.617000	0.36943	0.154000	0.19237	0.368000	0.22195	AAC		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	43	324	0	48	1	1	22	361	0	48	2		0	0	0	0	0	2	1	1	42	319	0	48	2								-20.000000	1	1	120892	1	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998792	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144994963	144994963	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144994963T>C	ENST00000322810.4	-	32	9606	c.9437A>G	c.(9436-9438)gAc>gGc	p.D3146G	PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G|PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					CTCGGCTACGTCTCGCACAGA	0.667000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478516	0.12521	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.6	4.6	0.57074	.	0.083430	0.46145	U	0.000302	T	0.64294	0.2585	M	0.67953	2.075	0.29047	N	0.884764	B;B;B;B;B;B;B;B	0.19817	0.039;0.039;0.039;0.023;0.039;0.039;0.039;0.039	B;B;B;B;B;B;B;B	0.22152	0.031;0.038;0.038;0.014;0.038;0.031;0.031;0.031	T	0.60141	-0.7321	10	0.33940	T	0.23	.	13.2525	0.60060	0.0:0.0:0.0:1.0	.	3036;2995;2987;3146;2977;3009;3013;3009	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	G	3009;3013;3009;2977;3146;2987;2995;3036;3032	ENSP00000344848:D3009G;ENSP00000350277:D3013G;ENSP00000346602:D3009G;ENSP00000381756:D2977G;ENSP00000323856:D3146G;ENSP00000347044:D2987G;ENSP00000348702:D2995G;ENSP00000388180:D3036G;ENSP00000434583:D3032G	ENSP00000323856:D3146G	D	-	2	0	PLEC	145066951	1.000000	0.71417	0.337000	0.25536	0.168000	0.22595	4.699000	0.61796	1.852000	0.53769	0.368000	0.22195	GAC		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	62	276	0	65	1	1	25	150	0	65	2		0	0	0	0	0	2	1	1	59	270	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144995573	144995573	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995573G>T	ENST00000322810.4	-	32	8996	c.8827C>A	c.(8827-8829)Ctg>Atg	p.L2943M	PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M|PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					TGGGCCTCCAGCAGGCGGATG	0.667000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867622	0.32977	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.95	4.07	0.47477	.	0.000000	0.52532	U	0.000073	D	0.96719	0.8929	M	0.86343	2.81	0.49051	D	0.999745	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97029	0.9749	10	0.72032	D	0.01	.	13.1119	0.59278	0.0792:0.0:0.9208:0.0	.	2833;2792;2784;2943;2774;2806;2810;2806	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2806;2810;2806;2774;2943;2784;2792;2833;2829	ENSP00000344848:L2806M;ENSP00000350277:L2810M;ENSP00000346602:L2806M;ENSP00000381756:L2774M;ENSP00000323856:L2943M;ENSP00000347044:L2784M;ENSP00000348702:L2792M;ENSP00000388180:L2833M;ENSP00000434583:L2829M	ENSP00000323856:L2943M	L	-	1	2	PLEC	145067561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.889000	0.56212	1.236000	0.43740	0.456000	0.33151	CTG		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0	110	536	0	97	1	1	25	104	0	97	2		0	0	0	0	0	2	1	1	106	526	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144995861	144995861	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995861G>A	ENST00000322810.4	-	32	8708	c.8539C>T	c.(8539-8541)Ctg>Ttg	p.L2847L	PLEC_ENST00000436759.2_Silent_p.L2737L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000357649.2_Silent_p.L2714L|PLEC_ENST00000354958.2_Silent_p.L2688L|PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000398774.2_Silent_p.L2678L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					TAAACACTCAGCTTCTCATTG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000322810.4	1	1	hg19	CCDS43772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	68	325	0	78	1	1	29	132	0	78	2		0	0	0	0	0	2	1	1	66	322	0	78	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144995928	144995928	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995928G>A	ENST00000322810.4	-	32	8641	c.8472C>T	c.(8470-8472)gaC>gaT	p.D2824D	PLEC_ENST00000436759.2_Silent_p.D2714D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000357649.2_Silent_p.D2691D|PLEC_ENST00000354958.2_Silent_p.D2665D|PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000398774.2_Silent_p.D2655D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					AGTGGCGCACGTCTTCCCGCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000322810.4	1	1	hg19	CCDS43772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	71	307	0	77	1	1	25	143	0	77	2		0	0	0	0	0	2	1	1	70	300	0	76	2								-20.000000	1	0	121056	3	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144996821	144996821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144996821C>A	ENST00000322810.4	-	31	7856	c.7687G>T	c.(7687-7689)Gag>Tag	p.E2563*	PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					GTCACCTTCTCCTGGGTGGCG	0.672000																								0							SO:0001587	stop_gained			ENST00000322810.4	0	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	50	16.408845	0.99862	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.29	4.29	0.51040	.	0.167572	0.35970	U	0.002871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	16.518	0.84306	0.0:1.0:0.0:0.0	.	.	.	.	X	2426;2430;2426;2394;2563;2404;2412;2453;2449	.	ENSP00000323856:E2563X	E	-	1	0	PLEC	145068809	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	2.154000	0.42291	2.228000	0.72767	0.549000	0.68633	GAG		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	26	124	0	33	1	1	25	161	0	33	2		0	0	0	0	0	2	1	9.999999e-01	25	120	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999947	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144997340	144997340	+	Missense_Mutation	SNP	C	C	T	rs62641756	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997340C>T	ENST00000322810.4	-	31	7337	c.7168G>A	c.(7168-7170)Gca>Aca	p.A2390T	PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					AAGATGAGTGCGCGGTTCTCA	0.642000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	1.455	-0.564004	0.03939	0.007521	1.16E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76448	-0.98;-0.98;-1.02;-1.01;-1.0;-0.98;-0.98;-0.98;-0.98	5.2	0.864	0.19068	.	0.662221	0.13678	U	0.370411	T	0.53610	0.1807	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.13594	0.008;0.008;0.008;0.004;0.008;0.008;0.008;0.008	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.39683	-0.9602	10	0.23302	T	0.38	.	10.7897	0.46426	0.0:0.6631:0.0:0.3369	.	2280;2239;2231;2390;2221;2253;2257;2253	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	2253;2257;2253;2221;2390;2231;2239;2280;2276	ENSP00000344848:A2253T;ENSP00000350277:A2257T;ENSP00000346602:A2253T;ENSP00000381756:A2221T;ENSP00000323856:A2390T;ENSP00000347044:A2231T;ENSP00000348702:A2239T;ENSP00000388180:A2280T;ENSP00000434583:A2276T	ENSP00000323856:A2390T	A	-	1	0	PLEC	145069328	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.228000	0.09114	0.222000	0.20900	-0.235000	0.12190	GCA		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	42	147	0	30	1	1	20	107	0	30	2		0	0	0	0	0	2	1	1	42	144	0	29	2								-2.622791	1	0	121292	136	51	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144997397	144997397	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997397G>A	ENST00000322810.4	-	31	7280	c.7111C>T	c.(7111-7113)Cgc>Tgc	p.R2371C	PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					ATCTGCACGCGCACCGAGAAG	0.642000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	5.110	0.205970	0.09704	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78816	-1.15;-1.15;-1.18;-1.18;-1.16;-1.14;-1.21;-1.15;-1.15	5.11	4.14	0.48551	.	0.099669	0.39341	U	0.001393	T	0.78246	0.4253	L	0.43923	1.385	0.50813	D	0.999893	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.998;0.999;0.999	P;P;P;P;P;P;P;P	0.53861	0.736;0.736;0.736;0.549;0.736;0.736;0.736;0.736	T	0.80741	-0.1247	10	0.87932	D	0	.	12.2609	0.54649	0.0:0.0:0.6987:0.3013	.	2261;2220;2212;2371;2202;2234;2238;2234	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2234;2238;2234;2202;2371;2212;2220;2261;2257	ENSP00000344848:R2234C;ENSP00000350277:R2238C;ENSP00000346602:R2234C;ENSP00000381756:R2202C;ENSP00000323856:R2371C;ENSP00000347044:R2212C;ENSP00000348702:R2220C;ENSP00000388180:R2261C;ENSP00000434583:R2257C	ENSP00000323856:R2371C	R	-	1	0	PLEC	145069385	0.962000	0.33011	0.983000	0.44433	0.044000	0.14063	3.072000	0.50049	2.372000	0.80975	0.549000	0.68633	CGC		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	39	168	0	37	1	1	20	134	0	37	2		0	0	0	0	0	2	1	1	37	166	0	37	2								-20.000000	1	0	121194	2	31	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	144997698	144997698	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997698C>T	ENST00000322810.4	-	31	6979	c.6810G>A	c.(6808-6810)gcG>gcA	p.A2270A	PLEC_ENST00000436759.2_Silent_p.A2160A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000357649.2_Silent_p.A2137A|PLEC_ENST00000354958.2_Silent_p.A2111A|PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000398774.2_Silent_p.A2101A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					TCTCTGCAGCCGCCTGTGCCT	0.736000																								0							SO:0001819	synonymous_variant			ENST00000322810.4	1	1	hg19	CCDS43772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0	30	132	0	21	1	6.360789e-01	2	9	0	21	2		0	0	0	0	0	2	1	1	29	131	0	21	2								-20.000000	1	1	118892	16	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	145004326	145004326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145004326C>A	ENST00000322810.4	-	21	3178	c.3009G>T	c.(3007-3009)caG>caT	p.Q1003H	PLEC_ENST00000436759.2_Missense_Mutation_p.Q893H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q870H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q866H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q852H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					TGACGGCCTCCTGGGCCTCCT	0.726000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380272	0.24944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.99	4.12	0.48240	.	0.565461	0.15487	U	0.259768	T	0.45994	0.1370	N	0.22421	0.69	0.40742	D	0.98284	B;B;B;B;B;B;P;B	0.36392	0.253;0.253;0.253;0.164;0.253;0.253;0.551;0.253	B;B;B;B;B;B;B;B	0.28709	0.093;0.093;0.093;0.043;0.093;0.093;0.093;0.093	T	0.50516	-0.8819	10	0.72032	D	0.01	.	12.9958	0.58646	0.0:0.9202:0.0:0.0798	.	893;852;844;1003;834;866;870;866	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	866;870;866;834;1003;844;852;893;889	ENSP00000344848:Q866H;ENSP00000350277:Q870H;ENSP00000346602:Q866H;ENSP00000381756:Q834H;ENSP00000323856:Q1003H;ENSP00000347044:Q844H;ENSP00000348702:Q852H;ENSP00000388180:Q893H;ENSP00000434583:Q889H	ENSP00000323856:Q1003H	Q	-	3	2	PLEC	145076314	0.931000	0.31567	1.000000	0.80357	0.244000	0.25665	1.149000	0.31626	1.098000	0.41479	0.453000	0.30009	CAG		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0	14	42	0	19	1	9.999846e-01	7	65	0	19	2		0	0	0	0	0	2	1	9.998469e-01	14	40	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999797	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	145007091	145007091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007091T>G	ENST00000322810.4	-	14	2187	c.2018A>C	c.(2017-2019)cAg>cCg	p.Q673P	PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P|PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					CACACGGTGCTGGTTCTCCTC	0.672000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665375	0.47677	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.12	5.12	0.69794	.	0.000000	0.64402	U	0.000011	D	0.96605	0.8892	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.97195	0.9860	10	0.87932	D	0	.	13.8973	0.63781	0.0:0.0:0.0:1.0	.	563;522;514;673;504;536;540;536	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	536;540;536;504;673;514;522;563;559;580	ENSP00000344848:Q536P;ENSP00000350277:Q540P;ENSP00000346602:Q536P;ENSP00000381756:Q504P;ENSP00000323856:Q673P;ENSP00000347044:Q514P;ENSP00000348702:Q522P;ENSP00000388180:Q563P;ENSP00000434583:Q559P;ENSP00000437303:Q580P	ENSP00000323856:Q673P	Q	-	2	0	PLEC	145079079	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.587000	0.67510	1.936000	0.56123	0.523000	0.50628	CAG		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	35	153	0	37	1	1	24	117	0	37	2		0	0	0	0	0	2	1	1	34	152	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	145007511	145007511	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007511C>A	ENST00000322810.4	-	13	1852	c.1683G>T	c.(1681-1683)cgG>cgT	p.R561R	PLEC_ENST00000436759.2_Silent_p.R451R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000357649.2_Silent_p.R428R|PLEC_ENST00000354958.2_Silent_p.R402R|PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000398774.2_Silent_p.R392R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					CAGCCAGCAGCCGGACATCCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000322810.4	1	1	hg19	CCDS43772.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	63	307	0	81	1	1	36	102	0	81	2		0	0	0	0	0	2	1	1	63	305	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	145008523	145008523	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145008523G>T	ENST00000322810.4	-	11	1712	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	PLEC_ENST00000436759.2_Missense_Mutation_p.L405M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000357649.2_Missense_Mutation_p.L382M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M|PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000356346.3_Missense_Mutation_p.L364M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					TCCCGCTCCAGGATGGCCACG	0.652000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.891959	0.52014	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.4	5.4	0.78164	.	0.000000	0.46758	U	0.000264	D	0.96540	0.8871	M	0.75777	2.31	0.52099	D	0.999946	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.96942	0.9688	10	0.87932	D	0	.	17.9524	0.89057	0.0:0.0:1.0:0.0	.	405;364;356;515;346;378;382;378	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	378;382;378;346;515;356;364;405;401;422	ENSP00000344848:L378M;ENSP00000350277:L382M;ENSP00000346602:L378M;ENSP00000381756:L346M;ENSP00000323856:L515M;ENSP00000347044:L356M;ENSP00000348702:L364M;ENSP00000388180:L405M;ENSP00000434583:L401M;ENSP00000437303:L422M	ENSP00000323856:L515M	L	-	1	2	PLEC	145080511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	2.542000	0.85734	0.645000	0.84053	CTG		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	52	248	0	74	1	1	17	140	0	74	2		0	0	0	0	0	2	1	1	52	242	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLEC	5339	broad.mit.edu	37	8	145024727	145024727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024727G>A	ENST00000322810.4	-	1	317	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					GCCATGGCACGCATGACCTGC	0.667000																								0							SO:0001583	missense			ENST00000322810.4	0	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	9.296	1.051834	0.19827	0.0	2.38E-4	ENSG00000178209	ENST00000322810	T	0.76839	-1.05	4.9	0.952	0.19584	Plectin/S10, N-terminal (1);	0.000000	0.43260	U	0.000591	T	0.51041	0.1651	N	0.04508	-0.205	0.32630	N	0.522118	B	0.19935	0.04	B	0.16289	0.015	T	0.46582	-0.9181	10	0.87932	D	0	.	4.7403	0.13010	0.1569:0.0:0.4131:0.4299	.	50	Q15149	PLEC_HUMAN	C	50	ENSP00000323856:R50C	ENSP00000323856:R50C	R	-	1	0	PLEC	145096715	0.003000	0.15002	0.502000	0.27614	0.510000	0.34073	0.452000	0.21795	-0.126000	0.11682	-1.008000	0.02478	CGT		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0	8	80	0	13	1	4.072470e-01	2	12	0	13	2		0	0	0	0	0	2	1	9.890257e-01	7	78	0	13	2								-13.412040	1	0	120292	7	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.510000	1.000000	1.000000	0.908710	0.990000	1	7.400000e-01	1
PLEC	5339	broad.mit.edu	37	8	145024774	145024774	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024774C>T	ENST00000322810.4	-	1	270	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					GTGCAAGCTGCGGGGCCGCCG	0.692000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	12.60	1.986930	0.35036	.	.	ENSG00000178209	ENST00000322810	T	0.76578	-1.03	4.9	1.53	0.23141	Plectin/S10, N-terminal (1);	0.165072	0.26927	U	0.021791	T	0.57169	0.2035	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.50668	-0.8801	10	0.72032	D	0.01	.	2.9172	0.05756	0.0:0.4038:0.2297:0.3665	.	34	Q15149	PLEC_HUMAN	H	34	ENSP00000323856:R34H	ENSP00000323856:R34H	R	-	2	0	PLEC	145096762	0.998000	0.40836	0.972000	0.41901	0.380000	0.30137	1.319000	0.33655	0.455000	0.26910	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0	13	72	0	17	0	3.750164e-01	0	8	0	17	2		0	0	0	0	0	2	1	9.996792e-01	13	72	0	16	2								-19.997600	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.950000	1.000000	1.000000	0.996154	0.990000	1	9.900000e-01	1
PARP10	84875	broad.mit.edu	37	8	145057668	145057668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145057668C>A	ENST00000313028.7	-	8	2183	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	PARP10_ENST00000524918.1_Nonsense_Mutation_p.E688*|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10			27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		TCTGGGGGCTCTTCTGCCTCC	0.667000																								0							SO:0001587	stop_gained			ENST00000313028.7	0	1	hg19	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675280	0.67928	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	.	.	.	4.04	2.14	0.27477	.	0.750699	0.11574	N	0.550478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.8845	0.13696	0.0:0.6573:0.2226:0.1201	.	.	.	.	X	688;403;697;709	.	ENSP00000325618:E697X	E	-	1	0	PARP10	145129656	0.003000	0.15002	0.002000	0.10522	0.023000	0.10783	0.905000	0.28504	1.011000	0.39340	0.639000	0.83563	GAG		TCGA-IB-7651-01A-11D-2154-08	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	1	0	1	19	60	0	10	1	1	7	127	0	10	2		0	0	0	0	0	2	1	9.999955e-01	18	59	0	10	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
SPATC1	375686	broad.mit.edu	37	8	145095869	145095869	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145095869A>G	ENST00000377470.3	+	3	1269	c.1167A>G	c.(1165-1167)ccA>ccG	p.P389P	SPATC1_ENST00000447830.2_Silent_p.P389P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1			15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		CCCACTCCCCACCTCGTACCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000377470.3	1	1	hg19	CCDS6413.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	1	0	1	77	336	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	1	69	327	0	94	2								-3.449431	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPLAH	26873	broad.mit.edu	37	8	145109470	145109470	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145109470C>T	ENST00000426825.1	-	19	2761	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)			20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		TCACCCTCCTCCTGGAAGACG	0.647000																								0							SO:0001583	missense			ENST00000426825.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.78	2.637608	0.47049	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	.	.	.	0.53688	D	0.999972	D	0.76494	0.999	D	0.69479	0.964	T	0.83160	-0.0099	7	0.87932	D	0	.	15.9917	0.80211	0.0:1.0:0.0:0.0	.	894	O14841	OPLA_HUMAN	K	894	.	ENSP00000412071:E894K	E	-	1	0	OPLAH	145181458	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.021000	0.76425	2.387000	0.81309	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	23	102	0	25	1	9.996087e-01	21	39	0	25	2		0	0	0	0	0	2	1	9.999997e-01	23	101	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
OPLAH	26873	broad.mit.edu	37	8	145111082	145111082	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145111082G>A	ENST00000426825.1	-	15	2145	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)			20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		AGGGCCCATGGAGCTTGTGCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000426825.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	60	299	0	82	1	9.925013e-01	11	29	0	82	2		0	0	0	0	0	2	1	1	59	297	0	82	2								-3.170727	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPLAH	26873	broad.mit.edu	37	8	145112597	145112597	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145112597C>T	ENST00000426825.1	-	10	1257	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)			20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		GATTAGCATCCGTCACTGTCA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000426825.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	18	163	0	34	1	8.688581e-01	8	27	0	34	2		0	0	0	0	0	2	1	9.999816e-01	18	157	0	33	2								-2.744842	1	1	120546	4	31	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.710000	1.000000	1.000000	0.966405	0.990000	1	9.100000e-01	1
OPLAH	26873	broad.mit.edu	37	8	145114642	145114642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114642C>T	ENST00000426825.1	-	3	304	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)			20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		CGGATGCTGGCGATATGACTG	0.687000																								0							SO:0001583	missense			ENST00000426825.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.15	1.850511	0.32699	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	5.24	0.73138	Hydantoinaseoxoprolinase, N-terminal (1);	0.111520	0.64402	D	0.000012	T	0.50137	0.1598	.	.	.	0.28467	N	0.915628	P	0.35192	0.489	B	0.31495	0.131	T	0.63129	-0.6706	7	0.48119	T	0.1	.	16.3018	0.82820	0.0:1.0:0.0:0.0	.	75	O14841	OPLA_HUMAN	T	75	.	ENSP00000412071:A75T	A	-	1	0	OPLAH	145186630	1.000000	0.71417	0.950000	0.38849	0.271000	0.26615	5.497000	0.66924	2.450000	0.82876	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	38	153	0	29	1	9.977564e-01	13	28	0	29	2		0	0	0	0	0	2	1	1	35	146	0	28	2								-20.000000	1	1	121052	1	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPLAH	26873	broad.mit.edu	37	8	145114814	145114814	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114814G>T	ENST00000426825.1	-	2	203	c.122C>A	c.(121-123)gCc>gAc	p.A41D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)			20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		CGCATAGTTGGCAGGGTCCTC	0.657000																								0							SO:0001583	missense			ENST00000426825.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.10	1.257038	0.22965	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	5.24	0.73138	Hydantoinaseoxoprolinase, N-terminal (1);	0.110427	0.64402	D	0.000008	T	0.60805	0.2297	.	.	.	0.40538	D	0.980995	P	0.38473	0.633	P	0.49853	0.624	T	0.57476	-0.7805	7	0.15952	T	0.53	.	16.3018	0.82820	0.0:0.0:1.0:0.0	.	41	O14841	OPLA_HUMAN	D	41	.	ENSP00000412071:A41D	A	-	2	0	OPLAH	145186802	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.875000	0.69660	2.450000	0.82876	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	53	256	0	59	1	9.951409e-01	19	23	0	59	2		0	0	0	0	0	2	1	1	51	252	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYC1	1537	broad.mit.edu	37	8	145151980	145151980	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145151980C>A	ENST00000318911.4	+	6	889	c.816C>A	c.(814-816)acC>acA	p.T272T	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1			15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		ATGTGTGCACCTTCCTGCGCT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000318911.4	1	1	hg19	CCDS6415.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	1	0	1	12	47	0	22	1	1	208	512	0	22	2		0	0	0	0	0	2	1	9.994551e-01	12	47	0	21	2								-19.999130	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998829	0.990000	1	9.900000e-01	1
HSF1	3297	broad.mit.edu	37	8	145533580	145533580	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145533580G>A	ENST00000528838.1	+	4	646	c.486G>A	c.(484-486)aaG>aaA	p.K162K	HSF1_ENST00000400780.4_Silent_p.K97K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1			11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		TGGCCATGAAGCAGTAGGTCC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000528838.1	1	1	hg19	CCDS6419.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	1	0	0	33	174	0	43	1	1	59	178	0	43	2		0	0	0	0	0	2	1	1	31	170	0	42	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999970	0.990000	1	9.900000e-01	1
DGAT1	8694	broad.mit.edu	37	8	145541760	145541760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145541760C>T	ENST00000332324.4	-	8	1022	c.749G>A	c.(748-750)cGc>cAc	p.R250H	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000531896.1_Silent_p.P280P|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1			9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		GTCCTCACCGCGGTAGGTCAG	0.632000																								0							SO:0001583	missense			ENST00000332324.4	1	1	hg19	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214885	0.39102	.	.	ENSG00000185000	ENST00000332324	T	0.73047	-0.71	4.68	1.75	0.24633	.	0.442530	0.22651	N	0.057328	T	0.67841	0.2936	L	0.52364	1.645	0.47123	D	0.999321	D	0.55605	0.972	P	0.51833	0.681	T	0.64424	-0.6411	10	0.46703	T	0.11	-5.946	6.3125	0.21173	0.0:0.6649:0.1536:0.1815	.	250	O75907	DGAT1_HUMAN	H	250	ENSP00000332258:R250H	ENSP00000332258:R250H	R	-	2	0	DGAT1	145512568	0.152000	0.22762	0.078000	0.20375	0.589000	0.36550	0.550000	0.23345	0.554000	0.29061	0.484000	0.47621	CGC		TCGA-IB-7651-01A-11D-2154-08	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	1	0	1	52	328	0	73	1	1	120	192	0	73	2		0	0	0	0	0	2	1	1	51	323	0	72	2								-3.222226	1	0	120422	3	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
DGAT1	8694	broad.mit.edu	37	8	145542724	145542724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145542724C>T	ENST00000332324.4	-	3	569	c.296G>A	c.(295-297)aGc>aAc	p.S99N	DGAT1_ENST00000531896.1_Missense_Mutation_p.S99N|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1			9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		CCGGGCATTGCTCAAGATCTG	0.632000																								0							SO:0001583	missense			ENST00000332324.4	0	1	hg19	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.521504	0.85600	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T;T	0.30981	1.51;1.51	5.32	4.38	0.52667	.	0.097011	0.64402	D	0.000002	T	0.55000	0.1893	M	0.81497	2.545	0.42564	D	0.993158	D;D	0.89917	1.0;0.998	D;D	0.76071	0.987;0.931	T	0.58025	-0.7709	10	0.49607	T	0.09	-18.8333	12.4498	0.55671	0.1683:0.8317:0.0:0.0	.	99;99	E9PS80;O75907	.;DGAT1_HUMAN	N	99	ENSP00000332258:S99N;ENSP00000432795:S99N	ENSP00000332258:S99N	S	-	2	0	DGAT1	145513532	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.314000	0.51943	2.504000	0.84457	0.556000	0.70494	AGC		TCGA-IB-7651-01A-11D-2154-08	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	0	0	0	3	18	0	9	1	9.995760e-01	71	118	0	9	2		0	0	0	0	0	2	1	8.130590e-01	3	18	0	9	2								-9.003031	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.440000	1.000000	1.000000	0.926773	0.990000	1	8.000000e-01	1
CPSF1	29894	broad.mit.edu	37	8	145620531	145620531	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145620531G>A	ENST00000349769.3	-	28	3230	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa			38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		CGTGGGATGCGGGCACACGGC	0.627000													NSCLC(133;1088 1848 27708 34777 35269)											0							SO:0001583	missense			ENST00000349769.3	1	1	hg19	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582216	0.65992	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	4.54	3.63	0.41609	.	0.122857	0.52532	D	0.000061	T	0.53400	0.1794	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.53244	-0.8466	10	0.48119	T	0.1	-10.8279	11.225	0.48877	0.0:0.0:0.8083:0.1917	.	1046	Q10570	CPSF1_HUMAN	C	1046	ENSP00000339353:R1046C	ENSP00000339353:R1046C	R	-	1	0	CPSF1	145591339	1.000000	0.71417	0.993000	0.49108	0.774000	0.43823	5.773000	0.68898	1.069000	0.40788	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	1	0	1	39	143	0	40	1	1	32	119	0	40	2		0	0	0	0	0	2	1	1	39	141	0	40	2								-3.553095	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPSF1	29894	broad.mit.edu	37	8	145623813	145623813	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145623813C>A	ENST00000349769.3	-	19	1867	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa			38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		GCTCCATGATCTCCTGCCCCG	0.672000													NSCLC(133;1088 1848 27708 34777 35269)											0							SO:0001583	missense			ENST00000349769.3	1	1	hg19	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419153	0.83559	.	.	ENSG00000071894	ENST00000349769	T	0.54675	0.56	5.65	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.49350	1.555	0.53005	D	0.999964	P	0.47604	0.898	P	0.53722	0.733	T	0.48115	-0.9063	10	0.30854	T	0.27	-9.2522	7.7805	0.29062	0.0:0.7454:0.0:0.2546	.	591	Q10570	CPSF1_HUMAN	D	591	ENSP00000339353:E591D	ENSP00000339353:E591D	E	-	3	2	CPSF1	145594621	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.540000	0.45727	0.742000	0.32697	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	1	0	1	78	757	0	144	1	9.999105e-01	14	115	0	144	2		0	0	0	0	0	2	1	1	76	746	0	140	2								-19.964130	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.860000	1.000000	1.000000	0.986194	0.990000	1	9.600000e-01	1
CPSF1	29894	broad.mit.edu	37	8	145625850	145625850	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145625850C>A	ENST00000349769.3	-	8	818	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa			38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		AGTGAGATGGCCACAATGGAG	0.662000													NSCLC(133;1088 1848 27708 34777 35269)											0							SO:0001583	missense			ENST00000349769.3	1	1	hg19	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167240	0.94768	.	.	ENSG00000071894	ENST00000349769	T	0.24350	1.86	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.991;0.994;0.988	T	0.61618	-0.7026	10	0.66056	D	0.02	-15.0396	17.2687	0.87095	0.0:1.0:0.0:0.0	.	242;164;242	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	S	242	ENSP00000339353:A242S	ENSP00000339353:A242S	A	-	1	0	CPSF1	145596658	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.771000	0.55318	2.686000	0.91538	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	1	0	1	80	446	0	82	1	9.999739e-01	23	63	0	82	2		0	0	0	0	0	2	1	1	80	441	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC39A4	55630	broad.mit.edu	37	8	145638654	145638654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145638654C>T	ENST00000301305.3	-	10	1699	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	SLC39A4_ENST00000276833.5_Missense_Mutation_p.A507T|SLC39A4_ENST00000531013.1_5'UTR	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4			14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		CAGAACACGGCCAGCGAGGTG	0.711000																								0							SO:0001583	missense			ENST00000301305.3	0	1	hg19	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	37	6.018510	0.97205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.68331	-0.32;-0.32	4.62	4.62	0.57501	.	0.053289	0.85682	D	0.000000	T	0.79919	0.4529	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.82608	-0.0373	10	0.87932	D	0	-24.9186	14.9999	0.71464	0.0:1.0:0.0:0.0	.	532;507;532	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	T	507;532	ENSP00000276833:A507T;ENSP00000301305:A532T	ENSP00000276833:A507T	A	-	1	0	SLC39A4	145609462	1.000000	0.71417	0.992000	0.48379	0.872000	0.50106	5.674000	0.68117	2.126000	0.65437	0.456000	0.33151	GCC		TCGA-IB-7651-01A-11D-2154-08	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1	1	0	0	9	61	0	10	1	9.917340e-01	36	26	0	10	2		0	0	0	0	0	2	1	9.941770e-01	9	58	0	10	2								-16.603050	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.720000	1.000000	1.000000	0.978550	0.990000	1	9.900000e-01	1
SLC39A4	55630	broad.mit.edu	37	8	145640153	145640153	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145640153G>T	ENST00000301305.3	-	5	1037	c.932C>A	c.(931-933)tCc>tAc	p.S311Y	SLC39A4_ENST00000276833.5_Missense_Mutation_p.S286Y|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4			14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		CCTGGACTGGGAGGTGCAGGC	0.657000																								0							SO:0001583	missense			ENST00000301305.3	1	1	hg19	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397820	0.25205	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.61859	0.07;0.24	4.98	4.1	0.47936	.	1.088530	0.06917	N	0.808769	T	0.50990	0.1648	L	0.34521	1.04	0.09310	N	1	B;P	0.51653	0.012;0.947	B;P	0.47744	0.006;0.556	T	0.16748	-1.0392	10	0.06365	T	0.9	-17.042	11.0603	0.47944	0.0926:0.0:0.9074:0.0	.	311;286	Q6P5W5;A6NDY5	S39A4_HUMAN;.	Y	286;311	ENSP00000276833:S286Y;ENSP00000301305:S311Y	ENSP00000276833:S286Y	S	-	2	0	SLC39A4	145610961	0.000000	0.05858	0.255000	0.24374	0.009000	0.06853	0.145000	0.16157	1.115000	0.41800	0.543000	0.68304	TCC		TCGA-IB-7651-01A-11D-2154-08	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1	1	0	1	70	367	0	71	1	9.831502e-01	19	17	0	71	2		0	0	0	0	0	2	1	1	69	359	0	68	2								-3.230008	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC39A4	55630	broad.mit.edu	37	8	145641572	145641572	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145641572A>G	ENST00000276833.5	-	1	324	c.21T>C	c.(19-21)ctT>ctC	p.L7L	SLC39A4_ENST00000301305.3_Intron|SLC39A4_ENST00000531013.1_5'Flank	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4			14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		TTTCCCTTTCAAGTCCAACAA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000276833.5	0	1	hg19	CCDS43782.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC39A4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382687.2	1	0	1	7	48	0	12	1	5.404722e-01	8	5	0	12	2		0	0	0	0	0	2	1	9.830393e-01	7	48	0	12	2								-16.795450	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.650000	1.000000	1.000000	0.967017	0.990000	1	9.500000e-01	1
PPP1R16A	84988	broad.mit.edu	37	8	145724155	145724155	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145724155C>T	ENST00000292539.4	+	3	1179	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A			8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		TTTTGCAGTCCGCCAGTTCCT	0.652000																								0							SO:0001583	missense			ENST00000292539.4	1	1	hg19	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688159	0.29962	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.67345	-0.26;-0.26	4.65	2.82	0.32997	Ankyrin repeat-containing domain (4);	0.199760	0.40302	N	0.001134	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	B	0.25351	0.124	B	0.27170	0.077	T	0.61969	-0.6953	10	0.48119	T	0.1	.	8.275	0.31866	0.0:0.8035:0.0:0.1965	.	88	Q96I34	PP16A_HUMAN	C	88	ENSP00000292539:R88C;ENSP00000391126:R88C	ENSP00000292539:R88C	R	+	1	0	PPP1R16A	145694963	0.005000	0.15991	0.996000	0.52242	0.385000	0.30292	0.365000	0.20348	1.095000	0.41419	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	0	0	1	31	225	0	43	1	9.998045e-01	34	64	0	43	2		0	0	0	0	0	2	1	1	31	222	0	42	2								-3.222116	1	1	121312	1	31	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.980000	1.000000	1.000000	0.997948	0.990000	1	9.900000e-01	1
PPP1R16A	84988	broad.mit.edu	37	8	145725514	145725514	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145725514A>C	ENST00000292539.4	+	5	1429	c.512A>C	c.(511-513)aAc>aCc	p.N171T	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A			8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		ACCGACGGGAACATGCCCTAT	0.657000																								0							SO:0001583	missense			ENST00000292539.4	0	1	hg19	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765820	0.90020	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.53640	0.61;0.61	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.56238	-0.8012	10	0.41790	T	0.15	.	13.1298	0.59375	1.0:0.0:0.0:0.0	.	171	Q96I34	PP16A_HUMAN	T	171	ENSP00000292539:N171T;ENSP00000391126:N171T	ENSP00000292539:N171T	N	+	2	0	PPP1R16A	145696322	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	4.221000	0.58574	1.996000	0.58369	0.459000	0.35465	AAC		TCGA-IB-7651-01A-11D-2154-08	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	1	0	1	11	82	0	16	1	9.824865e-01	19	36	0	16	2		0	0	0	0	0	2	1	9.985921e-01	11	81	0	16	2								-18.349970	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.730000	1.000000	1.000000	0.977297	0.990000	1	9.900000e-01	1
GPT	2875	broad.mit.edu	37	8	145729820	145729820	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145729820G>T	ENST00000528431.1	+	2	290	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	GPT_ENST00000394955.2_Missense_Mutation_p.A45S			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)			5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)	L-Alanine(DB00160)|Phenelzine(DB00780)	AGTGCAGCGAGCCTTGGAGCT	0.682000																								0							SO:0001583	missense			ENST00000528431.1	1	1	hg19	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672382	0.88348	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.45668	0.89;0.89	5.04	4.1	0.47936	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.48260	1.515	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.87578	0.998;0.839	T	0.56944	-0.7895	10	0.62326	D	0.03	-27.8924	12.9533	0.58413	0.0:0.1643:0.8357:0.0	.	45;45	B4DPT5;P24298	.;ALAT1_HUMAN	S	45	ENSP00000433586:A45S;ENSP00000378408:A45S	ENSP00000378408:A45S	A	+	1	0	GPT	145700628	0.867000	0.29959	0.927000	0.36925	0.861000	0.49209	4.128000	0.57951	2.519000	0.84933	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1	1	0	0	10	141	0	37	1	6.033780e-01	6	23	0	37	2		0	0	0	0	0	2	1	9.970929e-01	10	140	0	37	2								-14.757520	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.770000	0.400000	1.000000	1.000000	0.776325	0.770000	0	5.700000e-01	1
RECQL4	9401	broad.mit.edu	37	8	145740380	145740380	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145740380G>A	ENST00000428558.2	-	9	1601	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4			26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		GGCTGCGCCGGCTGTAGAGCA	0.652000			N, F, S			osteosarcoma, skin basal and sqamous cell		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	9401	RecQ protein-like 4		M	0							SO:0001819	synonymous_variant	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	ENST00000428558.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	23	78	0	26	1	9.166999e-01	9	8	0	26	2		0	0	0	0	0	2	1	9.999997e-01	23	75	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
LRRC14	9684	broad.mit.edu	37	8	145745329	145745329	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745329G>A	ENST00000292524.1	+	2	366	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T|RECQL4_ENST00000532237.1_5'Flank|RECQL4_ENST00000428558.2_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14			5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		CTGCAGCCGTGCCCTCCTGCA	0.637000																								0							SO:0001583	missense			ENST00000292524.1	1	1	hg19	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712850	0.30413	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.45668	2.26;5.06;5.06;0.9;0.89	3.95	3.04	0.35103	.	0.430073	0.20711	N	0.087082	T	0.28699	0.0711	L	0.29908	0.895	0.31265	N	0.692394	B	0.25312	0.123	B	0.24974	0.057	T	0.22277	-1.0221	10	0.31617	T	0.26	.	9.7436	0.40433	0.1093:0.0:0.8907:0.0	.	74	Q15048	LRC14_HUMAN	T	74	ENSP00000436452:A74T;ENSP00000434768:A74T;ENSP00000292524:A74T;ENSP00000435985:A74T;ENSP00000434738:A74T	ENSP00000292524:A74T	A	+	1	0	LRRC14	145716137	0.178000	0.23122	0.996000	0.52242	0.939000	0.58152	1.659000	0.37387	2.052000	0.61016	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	1	0	1	60	348	0	83	1	9.916021e-01	20	25	0	83	2		0	0	0	0	0	2	1	1	58	344	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LRRC14	9684	broad.mit.edu	37	8	145745828	145745828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745828C>T	ENST00000292524.1	+	3	682	c.536C>T	c.(535-537)gCg>gTg	p.A179V	LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V|RECQL4_ENST00000532237.1_5'Flank|RECQL4_ENST00000428558.2_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14			5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		GCCTCCTATGCGTTCCTGCGG	0.711000																								0							SO:0001583	missense			ENST00000292524.1	1	1	hg19	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	C	7.098	0.573505	0.13623	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.18016	2.24;5.04;5.04	4.27	2.36	0.29203	.	0.568408	0.17745	N	0.163439	T	0.09818	0.0241	N	0.20986	0.625	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.16100	-1.0414	10	0.32370	T	0.25	.	6.8223	0.23864	0.1783:0.4989:0.3228:0.0	.	179	Q15048	LRC14_HUMAN	V	179	ENSP00000436452:A179V;ENSP00000434768:A179V;ENSP00000292524:A179V	ENSP00000292524:A179V	A	+	2	0	LRRC14	145716636	0.000000	0.05858	0.007000	0.13788	0.100000	0.18952	0.728000	0.26013	2.219000	0.72066	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	1	0	1	87	487	0	102	0	5.166566e-01	1	10	0	102	2		0	0	0	0	0	2	1	1	86	475	0	100	2								-20.000000	1	1	120752	4	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRC14	9684	broad.mit.edu	37	8	145746029	145746029	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145746029G>A	ENST00000292524.1	+	3	883	c.737G>A	c.(736-738)cGc>cAc	p.R246H	LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H|RECQL4_ENST00000532237.1_5'Flank|RECQL4_ENST00000428558.2_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14			5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		CACGTGGCCCGCTTCCAGCAC	0.642000																								0							SO:0001583	missense			ENST00000292524.1	1	1	hg19	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251063	0.39797	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.54071	0.59;0.59;0.59	4.08	3.1	0.35709	.	0.816864	0.11252	N	0.583542	T	0.36468	0.0968	L	0.36672	1.1	0.26091	N	0.980956	P	0.42078	0.77	B	0.36885	0.235	T	0.19516	-1.0303	10	0.39692	T	0.17	.	4.7619	0.13111	0.2552:0.0:0.7448:0.0	.	246	Q15048	LRC14_HUMAN	H	246	ENSP00000436452:R246H;ENSP00000434768:R246H;ENSP00000292524:R246H	ENSP00000292524:R246H	R	+	2	0	LRRC14	145716837	0.050000	0.20438	0.545000	0.28153	0.802000	0.45316	2.394000	0.44450	2.097000	0.63578	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	1	0	1	71	356	0	92	1	9.843684e-01	13	21	0	92	2		0	0	0	0	0	2	1	1	70	351	0	90	2								-2.985191	1	1	121368	3	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP39	80728	broad.mit.edu	37	8	145757761	145757761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145757761C>T	ENST00000276826.5	-	8	3016	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39			22					GCATTCACCTCGTCAATGTCC	0.642000																								0							SO:0001583	missense			ENST00000276826.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.440753	0.96168	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.18657	2.2;2.2;2.2	5.45	5.45	0.79879	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.957;0.994	T	0.02081	-1.1217	10	0.35671	T	0.21	-33.0693	16.768	0.85528	0.0:1.0:0.0:0.0	.	939;970	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	939;970;939	ENSP00000276826:E939K;ENSP00000366522:E970K;ENSP00000445075:E939K	ENSP00000276826:E939K	E	-	1	0	ARHGAP39	145728569	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.656000	0.83736	2.565000	0.86533	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	1	0	1	19	115	0	34	1	5.363961e-01	3	9	0	34	2		0	0	0	0	0	2	1	9.999929e-01	19	112	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998118	0.990000	1	9.900000e-01	1
ARHGAP39	80728	broad.mit.edu	37	8	145770921	145770921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145770921C>T	ENST00000276826.5	-	5	2434	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39			22					TTGAAGAGCTCGCAGGCCTCC	0.632000																								0							SO:0001583	missense			ENST00000276826.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.8	4.860027	0.91433	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.69685	-0.42;-0.16;-0.42	4.92	4.92	0.64577	MyTH4 domain (1);	0.056351	0.64402	D	0.000002	T	0.74824	0.3767	L	0.49778	1.585	0.80722	D	1	D;D	0.76494	0.981;0.999	P;P	0.60173	0.532;0.87	T	0.76945	-0.2771	10	0.59425	D	0.04	-9.4975	15.9706	0.80013	0.0:1.0:0.0:0.0	.	745;745	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	745	ENSP00000276826:E745K;ENSP00000366522:E745K;ENSP00000445075:E745K	ENSP00000276826:E745K	E	-	1	0	ARHGAP39	145741729	1.000000	0.71417	0.978000	0.43139	0.967000	0.64934	7.663000	0.83820	2.427000	0.82271	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	1	0	1	26	231	0	60	1	2.808047e-01	6	4	0	60	2		0	0	0	0	0	2	1	9.999999e-01	26	228	0	60	2								-2.841678	1	1	121412	1	27	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.790000	1.000000	1.000000	0.980102	0.990000	1	9.600000e-01	1
ARHGAP39	80728	broad.mit.edu	37	8	145771066	145771066	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145771066G>T	ENST00000276826.5	-	5	2289	c.2088C>A	c.(2086-2088)aaC>aaA	p.N696K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39			22					TGGAGGCCCAGTTCTCGATGT	0.637000																								0							SO:0001583	missense			ENST00000276826.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.28	3.588366	0.66105	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.68331	-0.32;-0.04;-0.32	5.22	4.35	0.52113	.	0.157092	0.56097	D	0.000033	T	0.50429	0.1615	N	0.03050	-0.425	0.45464	D	0.998435	D;P	0.58620	0.983;0.918	P;P	0.55508	0.777;0.712	T	0.47923	-0.9079	10	0.10636	T	0.68	-10.3016	11.4392	0.50086	0.0886:0.0:0.9114:0.0	.	696;696	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	696	ENSP00000276826:N696K;ENSP00000366522:N696K;ENSP00000445075:N696K	ENSP00000276826:N696K	N	-	3	2	ARHGAP39	145741874	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.044000	0.57361	1.190000	0.43042	0.650000	0.86243	AAC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	1	0	1	28	226	0	51	0	4.392869e-01	1	12	0	51	2		0	0	0	0	0	2	1	1	28	223	0	49	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.870000	1.000000	1.000000	0.992186	0.990000	1	9.900000e-01	1
ZNF251	90987	broad.mit.edu	37	8	145948338	145948338	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145948338G>A	ENST00000292562.7	-	5	982	c.707C>T	c.(706-708)cCg>cTg	p.P236L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251			17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)		ACATTCGTACGGCTTCTCCCC	0.423000																								0							SO:0001583	missense			ENST00000292562.7	0	1	hg19	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214183	0.39102	.	.	ENSG00000198169	ENST00000292562	T	0.17054	2.3	2.44	1.55	0.23275	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28466	0.0704	L	0.59436	1.845	0.42217	D	0.991838	D	0.76494	0.999	P	0.59171	0.853	T	0.03829	-1.1000	9	0.66056	D	0.02	-9.0938	8.4183	0.32685	0.1307:0.0:0.8693:0.0	.	236	Q9BRH9	ZN251_HUMAN	L	236	ENSP00000292562:P236L	ENSP00000292562:P236L	P	-	2	0	ZNF251	145919147	1.000000	0.71417	0.213000	0.23690	0.113000	0.19764	4.403000	0.59729	0.577000	0.29470	0.563000	0.77884	CCG		TCGA-IB-7651-01A-11D-2154-08	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	0	0	0	9	389	0	59	0	2.643872e-01	1	39	0	59	2		0	0	0	0	0	2	1	9.934158e-01	9	376	0	56	2								-3.077982	1	1	121050	1	28	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.270000	0.130000	0.470000	0.260000	0.286794	0.270000	0	1.900000e-01	3.700000e-01
ZNF34	80778	broad.mit.edu	37	8	145999156	145999156	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145999156C>T	ENST00000343459.4	-	6	1243	c.1178G>A	c.(1177-1179)tGc>tAc	p.C393Y	ZNF34_ENST00000429371.2_Missense_Mutation_p.C372Y			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34			11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)		ACATTCCTTGCACTCAAATGG	0.428000																								0							SO:0001583	missense			ENST00000343459.4	1	1	hg19	CCDS47945.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610860	0.66558	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	D;D	0.85088	-1.94;-1.94	3.73	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003504	D	0.94305	0.8170	H	0.95328	3.655	0.36271	D	0.855171	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	D	0.97739	1.0207	10	0.87932	D	0	.	15.4547	0.75302	0.0:1.0:0.0:0.0	.	352;393	E7EN25;Q8IZ26	.;ZNF34_HUMAN	Y	352;322;393;372	ENSP00000341528:C393Y;ENSP00000396894:C372Y	ENSP00000341528:C393Y	C	-	2	0	ZNF34	145969960	0.997000	0.39634	0.999000	0.59377	0.940000	0.58332	5.107000	0.64603	2.351000	0.79841	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	1	0	1	40	109	0	37	1	9.981346e-01	2	28	0	37	2		0	0	0	0	0	2	1	1	40	104	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF517	340385	broad.mit.edu	37	8	146033667	146033667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146033667G>A	ENST00000531720.1	+	4	1411	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.A456T			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517			13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		CCGGTGCCGCGCCTGCGGGAG	0.721000																								0							SO:0001583	missense			ENST00000531720.1	0	1	hg19	CCDS6434.1	.	.	.	.	.	.	.	.	.	.	G	6.454	0.451993	0.12283	.	.	ENSG00000197363	ENST00000359971;ENST00000531720	T;T	0.18016	2.24;2.24	2.44	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07593	0.0191	N	0.05554	-0.025	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.32402	-0.9908	9	0.52906	T	0.07	.	4.193	0.10430	0.142:0.0:0.6311:0.2269	.	456	Q6ZMY9	ZN517_HUMAN	T	456	ENSP00000353058:A456T;ENSP00000436103:A456T	ENSP00000353058:A456T	A	+	1	0	ZNF517	146004471	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.863000	0.04259	-0.038000	0.13624	-0.268000	0.10319	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	1	0	0	18	63	0	10	1	7.377914e-01	5	6	0	10	2		0	0	0	0	0	2	1	9.999901e-01	16	63	0	10	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999923	0.990000	1	9.900000e-01	1
ZNF250	58500	broad.mit.edu	37	8	146107485	146107485	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146107485G>T	ENST00000292579.7	-	6	1214	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.P361P	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250			15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		TGCACGTGTAGGGCTTCTCCC	0.582000													NSCLC(16;520 556 24096 40084 43446)											0							SO:0001819	synonymous_variant			ENST00000292579.7	1	1	hg19	CCDS34972.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	1	0	1	64	263	0	63	0	9.214770e-01	1	19	0	63	2		0	0	0	0	0	2	1	1	62	252	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF16	7564	broad.mit.edu	37	8	146156950	146156950	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146156950T>G	ENST00000276816.4	-	4	1409	c.1223A>C	c.(1222-1224)aAt>aCt	p.N408T	ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16			29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)		GCCACAATCATTACACTCATA	0.527000																								0							SO:0001583	missense			ENST00000276816.4	1	1	hg19	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	T	6.663	0.490788	0.12702	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17054	2.3;2.3	3.88	0.141	0.14811	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.05467	-0.045	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	T	0.23904	-1.0175	9	0.48119	T	0.1	.	4.232	0.10608	0.0:0.3157:0.1749:0.5093	.	408	P17020	ZNF16_HUMAN	T	408	ENSP00000276816:N408T;ENSP00000378369:N408T	ENSP00000276816:N408T	N	-	2	0	ZNF16	146127754	0.000000	0.05858	0.084000	0.20598	0.929000	0.56500	-1.587000	0.02108	-0.142000	0.11354	-0.464000	0.05259	AAT		TCGA-IB-7651-01A-11D-2154-08	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	1	0	1	74	312	0	88	1	9.842334e-01	9	21	0	88	2		0	0	0	0	0	2	1	1	73	307	0	86	2								-3.269839	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C8orf33	65265	broad.mit.edu	37	8	146278525	146278525	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146278525G>A	ENST00000331434.6	+	3	510	c.396G>A	c.(394-396)ccG>ccA	p.P132P		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33			7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)		AACCCACCCCGAAACAGAGTA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000331434.6	0	1	hg19	CCDS34974.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	0	0	0	7	412	0	65	1	8.311180e-01	4	189	0	65	2		0	0	0	0	0	2	1	9.796056e-01	7	405	0	65	2								-6.235288	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.200000	0.080000	0.380000	0.190000	0.218136	0.200000	0	1.300000e-01	2.900000e-01
DLGAP2	9228	broad.mit.edu	37	8	1580998	1580998	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1580998C>T	ENST00000421627.2	+	5	1490	c.1356C>T	c.(1354-1356)agC>agT	p.S452S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2			41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)			TGCAGGTGAGCGAGGCGGAGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000421627.2	0	1	hg19	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	2.019	-0.425295	0.04701	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.62011	0.2393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73392	-0.3997	4	.	.	.	-10.2684	17.3139	0.87217	0.0:0.0974:0.0:0.9026	.	.	.	.	V	469	.	.	A	+	2	0	DLGAP2	1568405	0.999000	0.42202	0.250000	0.24296	0.151000	0.21798	0.431000	0.21444	-2.268000	0.00685	-1.022000	0.02435	GCG		TCGA-IB-7651-01A-11D-2154-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	0	10	86	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.969260e-01	10	83	0	13	2								-7.007482	1	1	121256	2	25	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.650000	1.000000	1.000000	0.962069	0.990000	1	9.100000e-01	1
MSR1	4481	broad.mit.edu	37	8	16026093	16026093	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026093T>C	ENST00000262101.5	-	4	625	c.504A>G	c.(502-504)ggA>ggG	p.G168G	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Silent_p.G168G|MSR1_ENST00000350896.3_Silent_p.G168G|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000445506.2_Silent_p.G186G			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	p.G168G(1)		37					CATTCCCATGTCCCTGGACTG	0.378000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000262101.5	1	1	hg19	CCDS5995.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2	1	0	1	77	354	0	82	0	1	0	361	0	82	2		0	0	0	0	0	2	1	1	76	345	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSR1	4481	broad.mit.edu	37	8	16026334	16026334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026334G>A	ENST00000262101.5	-	4	384	c.263C>T	c.(262-264)aCt>aTt	p.T88I	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.T88I|MSR1_ENST00000350896.3_Missense_Mutation_p.T88I|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000445506.2_Missense_Mutation_p.T106I			P21757	MSRE_HUMAN	macrophage scavenger receptor 1			37					ATTTGCATTAGTTGAACTAAC	0.378000																								0							SO:0001583	missense			ENST00000262101.5	1	1	hg19	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.332970	0.01298	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.89681	-0.59;-1.97;-0.59;-0.59;-2.55	4.44	-6.07	0.02158	.	1.747220	0.02794	N	0.122370	T	0.72614	0.3482	N	0.02916	-0.46	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.64002	-0.6509	10	0.24483	T	0.36	.	9.7211	0.40304	0.2402:0.1439:0.6159:0.0	.	106;88;88;88	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	I	88;88;106;88;88	ENSP00000262100:T88I;ENSP00000262101:T88I;ENSP00000405453:T106I;ENSP00000347430:T88I;ENSP00000371428:T88I	ENSP00000262101:T88I	T	-	2	0	MSR1	16070705	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.339000	0.07832	-1.113000	0.02981	-0.355000	0.07637	ACT		TCGA-IB-7651-01A-11D-2154-08	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2	1	0	1	98	421	0	111	0	1	0	373	0	111	2		0	0	0	0	0	2	1	1	97	409	0	111	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DLGAP2	9228	broad.mit.edu	37	8	1624783	1624783	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1624783C>T	ENST00000421627.2	+	8	2181	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2			41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)			AGATGAGAAGCGGTAACTCAG	0.582000																								0							SO:0001630	splice_region_variant			ENST00000421627.2	0	0	hg19	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864159	0.97043	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	.	.	.	5.66	2.83	0.33086	.	0.107337	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-4.6979	14.5081	0.67767	0.5095:0.4905:0.0:0.0	.	.	.	.	X	714;683	.	ENSP00000348366:R714X	R	+	1	2	DLGAP2	1612190	1.000000	0.71417	0.906000	0.35671	0.060000	0.15804	1.383000	0.34385	0.292000	0.22492	-0.309000	0.09137	CGA		TCGA-IB-7651-01A-11D-2154-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1	10	66	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	9.969579e-01	10	63	0	17	2								-17.777750	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.810000	1.000000	1.000000	0.988137	0.990000	1	9.900000e-01	1
DLGAP2	9228	broad.mit.edu	37	8	1626412	1626412	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1626412C>T	ENST00000421627.2	+	9	2215	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2			41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)			AACAGCGTCACGGCCGCCGTC	0.562000																								0							SO:0001583	missense			ENST00000421627.2	1	1	hg19	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601107|4.601107	0.87055|0.87055	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.21932	.|1.98	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50514|0.50514	0.1620|0.1620	M|M	0.80616|0.80616	2.505|2.505	0.49687|0.49687	D|D	0.99981|0.99981	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.984;0.991	T|T	0.58329|0.58329	-0.7655|-0.7655	5|10	.|0.87932	.|D	.|0	-9.9664|-9.9664	17.9665|17.9665	0.89100|0.89100	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|759;773	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	697|725;694	.|ENSP00000400258:T694M	.|ENSP00000348366:T725M	R|T	+|+	1|2	2|0	DLGAP2|DLGAP2	1613819|1613819	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.925000|0.925000	0.55904|0.55904	7.350000|7.350000	0.79385|0.79385	2.231000|2.231000	0.72958|0.72958	0.557000|0.557000	0.71058|0.71058	CGG|ACG		TCGA-IB-7651-01A-11D-2154-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1	47	273	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1	47	270	0	53	2								-20.000000	1	1	121026	6	37	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ZDHHC2	51201	broad.mit.edu	37	8	17055101	17055101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055101C>A	ENST00000262096.8	+	5	1079	c.384C>A	c.(382-384)taC>taA	p.Y128*		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2			8					CCATCCGATACTGTGACAGAT	0.368000																								0							SO:0001587	stop_gained			ENST00000262096.8	0	1	hg19	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685509	0.68157	.	.	ENSG00000104219	ENST00000262096;ENST00000522184	.	.	.	4.3	-3.91	0.04168	.	0.278379	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7717	0.69684	0.0:0.7656:0.0:0.2344	.	.	.	.	X	128;83	.	ENSP00000262096:Y128X	Y	+	3	2	ZDHHC2	17099472	0.978000	0.34361	0.966000	0.40874	0.907000	0.53573	0.176000	0.16782	-0.577000	0.05967	-0.691000	0.03719	TAC		TCGA-IB-7651-01A-11D-2154-08	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	1	0	1	116	498	0	127	1	1	4	129	0	127	2		0	0	0	0	0	2	1	1	114	489	0	126	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZDHHC2	51201	broad.mit.edu	37	8	17055914	17055914	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055914T>C	ENST00000262096.8	+	6	1163	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2			8					TGGATCATCATTGTCCATGGT	0.259000																								0							SO:0001819	synonymous_variant			ENST00000262096.8	1	1	hg19	CCDS47810.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	1	0	1	22	124	0	28	1	9.999893e-01	47	66	0	28	2		0	0	0	0	0	2	1	9.999990e-01	22	119	0	28	2								-13.166520	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999401	0.990000	1	9.900000e-01	1
VPS37A	137492	broad.mit.edu	37	8	17125834	17125834	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17125834T>G	ENST00000324849.4	+	3	942	c.268T>G	c.(268-270)Tta>Gta	p.L90V	VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V|VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)			10					ACGACATCACTTAATGGATAA	0.343000																								0							SO:0001583	missense			ENST00000324849.4	1	1	hg19	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319355	0.60524	.	.	ENSG00000155975	ENST00000324849;ENST00000324815;ENST00000518038;ENST00000521829	T;T	0.56941	0.43;0.43	4.8	3.64	0.41730	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.63792	0.2541	L	0.60455	1.87	0.46725	D	0.999173	D;D	0.71674	0.998;0.997	D;D	0.78314	0.941;0.991	T	0.61402	-0.7070	10	0.42905	T	0.14	-11.377	8.205	0.31449	0.0:0.2322:0.0:0.7678	.	65;90	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	V	90;90;101;65	ENSP00000318629:L90V;ENSP00000429680:L65V	ENSP00000318173:L90V	L	+	1	2	VPS37A	17170205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.858000	0.48356	0.935000	0.37341	0.533000	0.62120	TTA		TCGA-IB-7651-01A-11D-2154-08	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	0	0	1	52	279	1	113	1	9.940664e-01	19	60	1	113	5		0	0	0	0	0	2	1	1	52	275	1	113	12								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
VPS37A	137492	broad.mit.edu	37	8	17132303	17132303	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132303C>T	ENST00000324849.4	+	5	1152	c.478C>T	c.(478-480)Cca>Tca	p.P160S	VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F|VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)			10					ATTTCTTCCTCCATATCCTCC	0.403000																								0							SO:0001583	missense			ENST00000324849.4	1	1	hg19	CCDS6001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.086205|2.086205	0.36855|0.36855	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.56611|.	0.45;0.5|.	4.25|4.25	0.217|0.217	0.15264|0.15264	.|.	0.637270|.	0.16206|.	N|.	0.224693|.	T|T	0.23171|0.23171	0.0560|0.0560	N|N	0.15975|0.15975	0.35|0.35	0.24058|0.24058	N|N	0.996027|0.996027	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.0|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|6	0.16896|0.87932	T|D	0.51|0	-1.0447|-1.0447	7.02|7.02	0.24908|0.24908	0.0:0.6541:0.1255:0.2204|0.0:0.6541:0.1255:0.2204	.|.	135;160|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|F	160;135|169	ENSP00000318629:P160S;ENSP00000429680:P135S|.	ENSP00000318629:P160S|ENSP00000318173:S169F	P|S	+|+	1|2	0|0	VPS37A|VPS37A	17176674|17176674	0.965000|0.965000	0.33210|0.33210	0.797000|0.797000	0.32132|0.32132	0.721000|0.721000	0.41392|0.41392	-0.000000|-0.000000	0.12993|0.12993	0.028000|0.028000	0.15324|0.15324	0.579000|0.579000	0.79373|0.79373	CCA|TCC		TCGA-IB-7651-01A-11D-2154-08	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	1	0	1	59	282	0	59	1	1	35	112	0	59	2		0	0	0	0	0	2	1	1	58	269	0	59	2								-3.127907	1	0	121412	1	27	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS37A	137492	broad.mit.edu	37	8	17132334	17132334	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132334T>G	ENST00000324849.4	+	5	1183	c.509T>G	c.(508-510)aTc>aGc	p.I170S	VPS37A_ENST00000324815.3_Nonsense_Mutation_p.Y179*|VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)			10					AACAGGAGTATCACTTCTTTA	0.438000																								0							SO:0001583	missense			ENST00000324849.4	0	0	hg19	CCDS6001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.87|15.87	2.959567|2.959567	0.53400|0.53400	.|.	.|.	ENSG00000155975|ENSG00000155975	ENST00000324849;ENST00000521829|ENST00000324815	T;T|.	0.54279|.	0.58;0.58|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	1.238420|.	0.05339|.	N|.	0.529836|.	T|.	0.24084|.	0.0583|.	N|N	0.14661|0.14661	0.345|0.345	0.21256|0.21256	N|N	0.999748|0.999748	B;B|.	0.19200|.	0.034;0.006|.	B;B|.	0.18561|.	0.022;0.01|.	T|.	0.08146|.	-1.0736|.	10|.	0.07644|0.02654	T|T	0.81|1	-2.6082|-2.6082	12.9954|12.9954	0.58644|0.58644	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	145;170|.	Q8NEZ2-2;Q8NEZ2|.	.;VP37A_HUMAN|.	S|X	170;145|179	ENSP00000318629:I170S;ENSP00000429680:I145S|.	ENSP00000318629:I170S|ENSP00000318173:Y179X	I|Y	+|+	2|3	0|2	VPS37A|VPS37A	17176705|17176705	0.959000|0.959000	0.32827|0.32827	0.050000|0.050000	0.19076|0.19076	0.793000|0.793000	0.44817|0.44817	2.537000|2.537000	0.45702|0.45702	2.154000|2.154000	0.67381|0.67381	0.472000|0.472000	0.43445|0.43445	ATC|TAT		TCGA-IB-7651-01A-11D-2154-08	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	1	0	1	75	318	0	62	1	1	35	113	0	62	2		0	0	0	0	0	2	1	1	72	312	0	61	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLN8	2055	broad.mit.edu	37	8	1719499	1719499	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1719499C>T	ENST00000331222.4	+	2	526	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)			24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)			TGCTGCATGCCGACAAGGCGC	0.582000													Pancreas(155;338 1942 6138 10888 50612)											0							SO:0001819	synonymous_variant			ENST00000331222.4	1	1	hg19	CCDS5956.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	1	0	0	44	415	0	56	1	9.718436e-01	5	51	0	56	2		0	0	0	0	0	2	1	1	43	407	0	53	2								-2.879461	1	1	121412	5	40	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.840000	1.000000	1.000000	0.985918	0.990000	1	9.800000e-01	1
MTMR7	9108	broad.mit.edu	37	8	17228582	17228582	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17228582C>T	ENST00000180173.5	-	3	308	c.274G>A	c.(274-276)Gac>Aac	p.D92N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	p.D92N(1)		32					ATGTACACGTCGTGGCAATCT	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000180173.5	1	1	hg19	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542767	0.45280	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.82526	-1.62;-1.62	5.23	5.23	0.72850	.	0.092239	0.64402	N	0.000001	T	0.78997	0.4372	L	0.41961	1.31	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.72554	-0.4258	10	0.25106	T	0.35	.	19.1829	0.93630	0.0:1.0:0.0:0.0	.	92	Q9Y216	MTMR7_HUMAN	N	92	ENSP00000180173:D92N;ENSP00000429733:D92N	ENSP00000180173:D92N	D	-	1	0	MTMR7	17272953	1.000000	0.71417	0.280000	0.24747	0.455000	0.32408	4.592000	0.61027	2.602000	0.87976	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	1	0	0	30	405	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	30	397	0	98	2								-7.728546	1	1	121412	5	41	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.800000	0.550000	1.000000	1.000000	0.806951	0.800000	0	6.600000e-01	9.500000e-01
SLC7A2	6542	broad.mit.edu	37	8	17422552	17422552	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17422552T>G	ENST00000494857.1	+	13	2092	c.1874T>G	c.(1873-1875)gTt>gGt	p.V625G	SLC7A2_ENST00000470360.1_Missense_Mutation_p.V664G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G|SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2			25				L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGACAACGTTCATGCAGCA	0.408000																								0							SO:0001583	missense			ENST00000494857.1	1	1	hg19	CCDS34852.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	0.597	-0.830718	0.02734	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88354	-2.19;-2.19;-2.37;-2.22;-2.37	5.11	-0.393	0.12438	.	1.923250	0.01901	N	0.039188	T	0.79125	0.4393	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.0;0.017;0.004	B;B;B	0.19666	0.001;0.026;0.005	T	0.65278	-0.6207	10	0.23302	T	0.38	.	5.3749	0.16160	0.0:0.1784:0.4299:0.3916	.	665;664;625	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	G	625;625;664;665;664	ENSP00000419140:V625G;ENSP00000430464:V625G;ENSP00000419873:V664G;ENSP00000004531:V665G;ENSP00000381164:V664G	ENSP00000004531:V665G	V	+	2	0	SLC7A2	17466826	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.558000	0.05978	0.123000	0.18342	-0.263000	0.10527	GTT		TCGA-IB-7651-01A-11D-2154-08	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	1	0	1	35	172	0	36	0	9.718529e-01	0	31	0	36	2		0	0	0	0	0	2	1	1	35	171	0	36	2								-19.569790	1	1	121408	6	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
MTUS1	57509	broad.mit.edu	37	8	17611250	17611250	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17611250A>G	ENST00000262102.6	-	2	2291	c.2067T>C	c.(2065-2067)acT>acC	p.T689T	MTUS1_ENST00000519263.1_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T|MTUS1_ENST00000381869.3_Silent_p.T689T	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1			36					CATATTCAAAAGTCTCATTCA	0.328000																								0							SO:0001819	synonymous_variant			ENST00000262102.6	1	1	hg19	CCDS43717.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	1	0	1	32	174	0	31	1	9.999963e-01	50	61	0	31	2		0	0	0	0	0	2	1	1	32	173	0	31	2								-17.306650	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
MTUS1	57509	broad.mit.edu	37	8	17612546	17612546	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17612546A>G	ENST00000262102.6	-	2	995	c.771T>C	c.(769-771)gtT>gtC	p.V257V	MTUS1_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381862.3_Silent_p.V257V|MTUS1_ENST00000381869.3_Silent_p.V257V	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1			36					CAATATCTGAAACAAAAACCT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000262102.6	1	1	hg19	CCDS43717.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	1	0	1	127	619	0	132	1	9.999978e-01	30	60	0	132	2		0	0	0	0	0	2	1	1	122	608	0	132	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGL1	2267	broad.mit.edu	37	8	17726143	17726143	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17726143T>G	ENST00000398056.2	-	9	1508	c.693A>C	c.(691-693)agA>agC	p.R231S	FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000522444.1_Missense_Mutation_p.R231S|FGL1_ENST00000381841.2_Missense_Mutation_p.R231S|FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S			Q08830	FGL1_HUMAN	fibrinogen-like 1			13					TGAATTTCATTCTTTGGTGAC	0.453000																								0							SO:0001583	missense			ENST00000398056.2	1	1	hg19	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573112	0.45902	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.57	-1.8	0.07907	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.146424	0.64402	D	0.000012	T	0.09949	0.0244	N	0.11724	0.165	0.30491	N	0.771345	B;B;B	0.29212	0.237;0.166;0.016	B;B;B	0.34590	0.186;0.096;0.011	T	0.12502	-1.0545	10	0.44086	T	0.13	.	5.089	0.14698	0.1293:0.3438:0.0:0.5269	.	201;231;231	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	S	231;231;201;231;231;231;231;231;231	ENSP00000381133:R231S;ENSP00000429757:R231S;ENSP00000371263:R231S;ENSP00000401952:R231S;ENSP00000381131:R231S;ENSP00000371262:R231S;ENSP00000428430:R231S	ENSP00000221204:R231S	R	-	3	2	FGL1	17770423	0.994000	0.37717	0.946000	0.38457	0.905000	0.53344	0.305000	0.19254	-0.369000	0.08028	0.477000	0.44152	AGA		TCGA-IB-7651-01A-11D-2154-08	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	1	0	1	138	610	0	122	0	8.217468e-01	0	16	0	122	2		0	0	0	0	0	2	1	1	138	604	0	121	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCM1	5108	broad.mit.edu	37	8	17869310	17869310	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17869310A>G	ENST00000519253.1	+	34	5712	c.5461A>G	c.(5461-5463)Act>Gct	p.T1821A	PCM1_ENST00000325083.8_Missense_Mutation_p.T1829A|PCM1_ENST00000327578.8_Missense_Mutation_p.T528A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A			Q15154	PCM1_HUMAN	pericentriolar material 1		PCM1/JAK2(30)	48					CACTGAAGCTACTGAAGAAAA	0.393000			T	RET, JAK2	papillary thyroid, CML, MPD										Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		E, L	0							SO:0001583	missense			ENST00000519253.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	7.488	0.649995	0.14516	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.32	1.26	0.21427	.	0.627807	0.17034	N	0.189614	T	0.27967	0.0689	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.001;0.0;0.001;0.001;0.003;0.001	B;B;B;B;B;B;B	0.09377	0.002;0.002;0.003;0.002;0.001;0.004;0.002	T	0.18840	-1.0324	10	0.18276	T	0.48	-2.9531	5.6939	0.17845	0.4667:0.1901:0.3432:0.0	.	1821;1829;628;1821;1774;1775;1829	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154	.;.;.;.;.;.;PCM1_HUMAN	A	1829;1821;1775;528	ENSP00000327077:T1829A;ENSP00000431099:T1821A;ENSP00000430521:T1775A;ENSP00000328332:T528A	ENSP00000327077:T1829A	T	+	1	0	PCM1	17913590	0.000000	0.05858	0.864000	0.33941	0.897000	0.52465	-0.088000	0.11198	0.415000	0.25817	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	1	0	1	36	173	0	39	1	1	47	170	0	39	2		0	0	0	0	0	2	1	1	36	167	0	39	2								-19.852650	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
PCM1	5108	broad.mit.edu	37	8	17872228	17872228	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17872228G>A	ENST00000519253.1	+	36	5947	c.5696G>A	c.(5695-5697)cGt>cAt	p.R1899H	PCM1_ENST00000325083.8_Missense_Mutation_p.R1907H|PCM1_ENST00000327578.8_Missense_Mutation_p.R606H|PCM1_ENST00000524226.1_Intron			Q15154	PCM1_HUMAN	pericentriolar material 1		PCM1/JAK2(30)	48					TTGCCGTTACGTTTACCTGAA	0.438000			T	RET, JAK2	papillary thyroid, CML, MPD										Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		E, L	0							SO:0001583	missense			ENST00000519253.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840949|2.840949	0.51057|0.51057	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000327578|ENST00000522275	T;T;T|.	0.17370|.	3.66;3.66;2.28|.	4.65|4.65	3.78|3.78	0.43462|0.43462	.|.	0.385114|.	0.28946|.	N|.	0.013636|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.03608|0.03608	-0.345|-0.345	0.20074|0.20074	N|N	0.999939|0.999939	P;P;B;P;P;P|.	0.45126|.	0.851;0.851;0.226;0.851;0.799;0.851|.	B;B;B;B;B;B|.	0.40534|.	0.332;0.332;0.004;0.332;0.121;0.332|.	T|T	0.15636|0.15636	-1.0430|-1.0430	10|5	0.72032|.	D|.	0.01|.	-6.3064|-6.3064	14.2484|14.2484	0.66004|0.66004	0.0:0.849:0.151:0.0|0.0:0.849:0.151:0.0	.|.	1899;1907;706;1899;1852;1907|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;Q15154|.	.;.;.;.;.;PCM1_HUMAN|.	H|I	1907;1899;606|647	ENSP00000327077:R1907H;ENSP00000431099:R1899H;ENSP00000328332:R606H|.	ENSP00000327077:R1907H|.	R|V	+|+	2|1	0|0	PCM1|PCM1	17916508|17916508	0.996000|0.996000	0.38824|0.38824	0.965000|0.965000	0.40720|0.40720	0.839000|0.839000	0.47603|0.47603	1.811000|1.811000	0.38942|0.38942	1.576000|1.576000	0.49790|0.49790	-0.234000|-0.234000	0.12200|0.12200	CGT|GTT		TCGA-IB-7651-01A-11D-2154-08	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	1	0	0	10	134	0	34	1	9.998843e-01	21	225	0	34	2		0	0	0	0	0	2	1	9.971058e-01	10	133	0	34	2								-14.412540	1	1	120828	13	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.810000	0.420000	1.000000	1.000000	0.802267	0.810000	0	5.900000e-01	1
PCM1	5108	broad.mit.edu	37	8	17883088	17883088	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17883088G>T	ENST00000519253.1	+	38	6197	c.5946G>T	c.(5944-5946)caG>caT	p.Q1982H	PCM1_ENST00000325083.8_Missense_Mutation_p.Q1990H|PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H			Q15154	PCM1_HUMAN	pericentriolar material 1		PCM1/JAK2(30)	48					AAGAAGAACAGAAAAACCATT	0.289000			T	RET, JAK2	papillary thyroid, CML, MPD										Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		E, L	0							SO:0001583	missense			ENST00000519253.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.41|16.41	3.115436|3.115436	0.56505|0.56505	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.24350|.	3.23;3.23;2.94;1.86|.	5.42|5.42	3.59|3.59	0.41128|0.41128	.|.	0.286130|.	0.39909|.	N|.	0.001223|.	T|T	0.54334|0.54334	0.1852|0.1852	L|L	0.50333|0.50333	1.59|1.59	0.48901|0.48901	D|D	0.999721|0.999721	P;P;P;P;B;B;P|.	0.40875|.	0.731;0.731;0.731;0.731;0.003;0.001;0.731|.	B;B;B;B;B;B;B|.	0.40228|.	0.256;0.256;0.323;0.256;0.01;0.006;0.256|.	T|T	0.48340|0.48340	-0.9044|-0.9044	10|5	0.72032|.	D|.	0.01|.	-1.1301|-1.1301	5.4438|5.4438	0.16523|0.16523	0.2254:0.0:0.6288:0.1458|0.2254:0.0:0.6288:0.1458	.|.	1982;1990;789;1982;1935;1826;1990|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	H|I	1990;1982;1826;689|730	ENSP00000327077:Q1990H;ENSP00000431099:Q1982H;ENSP00000430521:Q1826H;ENSP00000328332:Q689H|.	ENSP00000327077:Q1990H|.	Q|R	+|+	3|2	2|0	PCM1|PCM1	17927368|17927368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.981000|1.981000	0.40628|0.40628	0.754000|0.754000	0.32968|0.32968	-0.233000|-0.233000	0.12211|0.12211	CAG|AGA		TCGA-IB-7651-01A-11D-2154-08	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	1	0	1	8	47	0	10	1	9.999889e-01	33	148	0	10	2		0	0	0	0	0	2	1	9.905174e-01	8	46	0	10	2								-15.598170	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.760000	1.000000	1.000000	0.983470	0.990000	1	9.900000e-01	1
ASAH1	427	broad.mit.edu	37	8	17917112	17917112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17917112G>A	ENST00000262097.6	-	11	1197	c.886C>T	c.(886-888)Cga>Tga	p.R296*	ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*|ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1			9					TTTCTGTCTCGTGTAATCACA	0.388000																								0							SO:0001587	stop_gained			ENST00000262097.6	0	1	hg19	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	37	6.373901	0.97515	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	.	.	.	5.11	3.25	0.37280	.	0.097792	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4388	13.7377	0.62829	0.0:0.0:0.6919:0.3081	.	.	.	.	X	296;312;271;206;290	.	ENSP00000262097:R296X	R	-	1	2	ASAH1	17961392	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	4.721000	0.61951	0.799000	0.34018	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	0	0	1	97	523	1	117	0	1	3	895	1	117	24		0	0	0	0	0	2	1	1	95	512	1	117	18								-20.000000	1	0	121410	1	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NAT2	10	broad.mit.edu	37	8	18258174	18258174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18258174T>G	ENST00000286479.3	+	2	768	c.661T>G	c.(661-663)Tca>Gca	p.S221A	NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)			12				Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	TATAACCACATCATTTTGTTC	0.368000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of															0							SO:0001583	missense	Familial Cancer Database	incl.: Familial Head and Neck Cancer	ENST00000286479.3	1	1	hg19	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	T	9.220	1.033049	0.19590	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.01767	4.65;4.65	2.67	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.91972	3.26	0.23747	N	0.996957	D	0.76494	0.999	D	0.81914	0.995	T	0.02275	-1.1184	10	0.62326	D	0.03	.	7.2032	0.25893	0.0:0.0:0.0:1.0	.	221	A4Z6T7	.	A	221;91	ENSP00000286479:S221A;ENSP00000428416:S91A	ENSP00000286479:S221A	S	+	1	0	NAT2	18302454	1.000000	0.71417	0.020000	0.16555	0.098000	0.18820	3.553000	0.53713	1.462000	0.47948	0.358000	0.22013	TCA		TCGA-IB-7651-01A-11D-2154-08	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	1	0	1	87	401	0	96	0	0	0	1	0	96	2		0	0	0	0	0	2	1	1	86	398	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSD3	23362	broad.mit.edu	37	8	18725375	18725375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18725375C>T	ENST00000327040.8	-	4	1545	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	PSD3_ENST00000523619.1_Missense_Mutation_p.M416I|PSD3_ENST00000440756.2_Missense_Mutation_p.M481I	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3			20					GCTGTTGTATCATTGGAGTGA	0.458000																								0							SO:0001583	missense			ENST00000327040.8	1	1	hg19	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416430	0.62511	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.10668	2.85;2.85;2.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.32530	0.975	0.42160	D	0.991596	B	0.29716	0.255	B	0.27608	0.081	T	0.09684	-1.0663	10	0.45353	T	0.12	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	481	E9KL50	.	I	481;481;416	ENSP00000324127:M481I;ENSP00000401704:M481I;ENSP00000430640:M416I	ENSP00000324127:M481I	M	-	3	0	PSD3	18769655	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.289000	0.65656	2.637000	0.89404	0.585000	0.79938	ATG		TCGA-IB-7651-01A-11D-2154-08	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	1	0	1	147	583	0	158	1	9.994884e-01	11	35	0	158	2		0	0	0	0	0	2	1	1	144	572	0	158	2								-20.000000	1	1	120902	1	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF10	9639	broad.mit.edu	37	8	1874553	1874553	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1874553C>A	ENST00000398564.1	+	23	2696	c.2696C>A	c.(2695-2697)gCt>gAt	p.A899D	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A898D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D|ARHGEF10_ENST00000262112.6_Intron			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10			35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)			ATTGAATGTGCTGCTTATAAC	0.378000																								0							SO:0001583	missense			ENST00000398564.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.78	3.218496	0.58560	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564	T;T;T;T	0.61627	0.1;0.16;0.09;0.09	5.26	5.26	0.73747	.	0.115630	0.56097	D	0.000021	T	0.78142	0.4237	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.72075	0.967;0.976;0.953	T	0.81215	-0.1034	10	0.72032	D	0.01	-14.6941	18.8647	0.92287	0.0:1.0:0.0:0.0	.	899;836;874	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	D	874;836;898;899	ENSP00000340297:A874D;ENSP00000427909:A836D;ENSP00000431012:A898D;ENSP00000381571:A899D	ENSP00000340297:A874D	A	+	2	0	ARHGEF10	1861960	1.000000	0.71417	0.945000	0.38365	0.017000	0.09413	6.550000	0.73905	2.437000	0.82529	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding		1	0	0	24	269	0	81	0	8.799144e-01	1	43	0	81	2		0	0	0	0	0	2	1	9.999997e-01	23	267	0	81	2								-20.000000	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.980000	0.640000	1.000000	1.000000	0.922636	0.980000	1	8.000000e-01	1
ZNF596	169270	broad.mit.edu	37	8	192901	192901	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:192901C>T	ENST00000398612.1	+	3	410	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ZNF596_ENST00000308811.4_Silent_p.F9F|ZNF596_ENST00000320552.2_Silent_p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596			14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)			CCATGACCTTCGAGGATATCA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000398612.1	1	1	hg19	CCDS5951.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	1	0	1	28	189	0	50	0	8.917565e-02	0	4	0	50	2		0	0	0	0	0	2	1	1	27	187	0	49	2								-13.691000	1	1	121410	2	39	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999129	0.990000	1	9.900000e-01	1
CSGALNACT1	55790	broad.mit.edu	37	8	19315993	19315993	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19315993A>G	ENST00000454498.2	-	5	1808	c.795T>C	c.(793-795)gtT>gtC	p.V265V	CSGALNACT1_ENST00000311540.4_Silent_p.V265V|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1			31					GAGGCACGATAACATTGATAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000454498.2	1	1	hg19	CCDS6010.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	1	0	1	305	1395	0	280	1	9.894690e-01	6	28	0	280	2		0	0	0	0	0	2	1	1	302	1368	0	277	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF596	169270	broad.mit.edu	37	8	195764	195764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:195764C>T	ENST00000398612.1	+	6	1300	c.917C>T	c.(916-918)cCa>cTa	p.P306L	ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L|ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596			14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)			GGAGATAAACCATATGGATGT	0.393000																								0							SO:0001583	missense			ENST00000398612.1	1	1	hg19	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380151	0.61845	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.27557	1.66;2.3;1.66	2.62	2.62	0.31277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49372	0.1553	M	0.62209	1.925	0.50632	D	0.999889	D	0.89917	1.0	D	0.97110	1.0	T	0.52320	-0.8591	9	0.62326	D	0.03	.	11.4348	0.50062	0.0:1.0:0.0:0.0	.	306	Q8TC21	ZN596_HUMAN	L	306;236;306	ENSP00000310033:P306L;ENSP00000318719:P236L;ENSP00000381613:P306L	ENSP00000310033:P306L	P	+	2	0	ZNF596	185764	1.000000	0.71417	0.956000	0.39512	0.730000	0.41778	5.821000	0.69257	1.792000	0.52537	0.585000	0.79938	CCA		TCGA-IB-7651-01A-11D-2154-08	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	0	0	1	41	163	0	53	0	1.882291e-01	1	3	0	53	2		0	0	0	0	0	2	1	1	40	159	0	52	2								-20.000000	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS10	55174	broad.mit.edu	37	8	19675132	19675132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19675132G>A	ENST00000397977.3	+	1	482	c.84G>A	c.(82-84)tgG>tgA	p.W28*	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10			20					CCAAGGCGTGGCTGATCACGG	0.682000																								0							SO:0001587	stop_gained			ENST00000397977.3	0	1	hg19	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	42	9.770182	0.99259	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2863	17.7262	0.88366	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000381064:W28X	W	+	3	0	INTS10	19719412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.541000	0.90644	2.598000	0.87819	0.563000	0.77884	TGG		TCGA-IB-7651-01A-11D-2154-08	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	1	0	0	6	65	0	15	1	9.921101e-01	18	88	0	15	2		0	0	0	0	0	2	1	9.671947e-01	6	65	0	14	2								-11.184770	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.970000	0.420000	1.000000	1.000000	0.871349	0.970000	1	6.600000e-01	1
INTS10	55174	broad.mit.edu	37	8	19681555	19681555	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19681555G>A	ENST00000397977.3	+	7	1234	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10			20					AAAGGAAGACGGTAATAAATA	0.353000																								0							SO:0001630	splice_region_variant			ENST00000397977.3	1	0	hg19	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876160	0.91664	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73388	-0.3998	9	0.51188	T	0.08	-10.739	18.5013	0.90882	0.0:0.0:1.0:0.0	.	279	Q9NVR2	INT10_HUMAN	Q	279	.	ENSP00000381064:R279Q	R	+	2	0	INTS10	19725835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.225000	0.78051	2.717000	0.92951	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	1	0	1	82	382	0	76	0	1	0	132	0	76	2		0	0	0	0	0	2	1	1	81	370	0	75	2								-2.540381	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS10	55174	broad.mit.edu	37	8	19682423	19682423	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19682423C>T	ENST00000397977.3	+	8	1344	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10			20					TTCCACCATGCTGGTCTTCTT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000397977.3	1	1	hg19	CCDS6011.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	0	0	0	62	279	0	62	1	1	47	77	0	62	2		0	0	0	0	0	2	1	1	61	277	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS10	55174	broad.mit.edu	37	8	19689592	19689592	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19689592A>C	ENST00000397977.3	+	11	1746	c.1348A>C	c.(1348-1350)Atc>Ctc	p.I450L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10			20					TTGGTTAAGAATCTTCCTCAC	0.378000																								0							SO:0001583	missense			ENST00000397977.3	1	1	hg19	CCDS6011.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.59|12.59|12.59	1.982892|1.982892|1.982892	0.34942|0.34942|0.34942	.|.|.	.|.|.	ENSG00000104613|ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977|ENST00000518799	.|.|.	.|.|.	.|.|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|.	.|0.046970|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.58481|0.58481|0.58481	0.2125|0.2125|0.2125	L|L|L	0.38531|0.38531|0.38531	1.155|1.155|1.155	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|B|.	.|0.12013|.	.|0.005|.	.|B|.	.|0.12156|.	.|0.007|.	T|T|T	0.55055|0.55055|0.55055	-0.8200|-0.8200|-0.8200	5|9|5	.|0.40728|.	.|T|.	.|0.16|.	-25.6753|-25.6753|-25.6753	14.9937|14.9937|14.9937	0.71412|0.71412|0.71412	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|450|.	.|Q9NVR2|.	.|INT10_HUMAN|.	D|L|T	225|450|32	.|.|.	.|ENSP00000381064:I450L|.	E|I|N	+|+|+	3|1|2	2|0|0	INTS10|INTS10|INTS10	19733872|19733872|19733872	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.036000|7.036000|7.036000	0.76524|0.76524|0.76524	2.221000|2.221000|2.221000	0.72209|0.72209|0.72209	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|ATC|AAT		TCGA-IB-7651-01A-11D-2154-08	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	1	0	1	26	285	0	58	1	9.999881e-01	35	165	0	58	2		0	0	0	0	0	2	1	9.999999e-01	26	280	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.960000	0.650000	1.000000	1.000000	0.920542	0.960000	1	8.000000e-01	1
LPL	4023	broad.mit.edu	37	8	19805714	19805714	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19805714G>A	ENST00000311322.8	+	2	582	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase			36				AST-120(DB05269)|Tyloxapol(DB06439)	TATCGACATCGAAAGTAAATT	0.418000																								0							SO:0001583	missense			ENST00000311322.8	1	1	hg19	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503993	0.44558	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.90732	-2.72;-2.72;-2.72	5.23	5.23	0.72850	Lipase, N-terminal (1);	0.149727	0.64402	D	0.000018	D	0.84597	0.5507	L	0.35542	1.07	0.34686	D	0.725273	P	0.41848	0.763	B	0.35413	0.202	D	0.86747	0.1958	8	.	.	.	-33.3413	16.6495	0.85185	0.0:0.0:1.0:0.0	.	38	P06858	LIPL_HUMAN	K	38;38;38;24	ENSP00000428237:E38K;ENSP00000428557:E38K;ENSP00000309757:E38K	.	E	+	1	0	LPL	19849994	1.000000	0.71417	0.990000	0.47175	0.449000	0.32228	5.307000	0.65762	2.599000	0.87857	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3	1	0	1	120	571	0	153	0	6.439645e-01	0	12	0	153	2		0	0	0	0	0	2	1	1	116	555	0	153	2								-3.161637	1	1	121412	33	47	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPL	4023	broad.mit.edu	37	8	19816893	19816893	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19816893T>C	ENST00000311322.8	+	7	1609		c.e7+2			NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase			36				AST-120(DB05269)|Tyloxapol(DB06439)	ATTCACTCTGTGAGTAGCACA	0.522000																								0							SO:0001630	splice_region_variant			ENST00000311322.8	1	1	hg19	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672395	0.67928	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	.	.	.	5.93	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5139	0.50509	0.0:0.0:0.1504:0.8496	.	.	.	.	.	-1	.	.	.	+	.	.	LPL	19861173	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.580000	0.82523	1.048000	0.40298	0.523000	0.50628	.		TCGA-IB-7651-01A-11D-2154-08	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3	1	0	1	41	152	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1	41	149	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6V1B2	526	broad.mit.edu	37	8	20068811	20068811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20068811G>A	ENST00000276390.2	+	6	627	c.587G>A	c.(586-588)gGg>gAg	p.G196E		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2			9				Gallium nitrate(DB05260)	TCTGCTGCTGGGCTACCACAC	0.448000													Pancreas(119;1230 1726 3901 4036 31644)											0							SO:0001583	missense			ENST00000276390.2	1	1	hg19	CCDS6014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.283492|5.283492	0.95489|0.95489	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000276390;ENST00000542368|ENST00000519667	D|.	0.85088|.	-1.94|.	5.65|5.65	5.65|5.65	0.86999|0.86999	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91219|.	0.7233|.	H|H	0.98701|0.98701	4.305|4.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.94242|.	0.7486|.	10|.	0.87932|.	D|.	0|.	-36.7028|-36.7028	18.6584|18.6584	0.91463|0.91463	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196|.	P21281|.	VATB2_HUMAN|.	E|X	196;70|185	ENSP00000276390:G196E|.	ENSP00000276390:G196E|.	G|W	+|+	2|3	0|0	ATP6V1B2|ATP6V1B2	20113091|20113091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.808000|9.808000	0.99193|0.99193	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGG|TGG		TCGA-IB-7651-01A-11D-2154-08	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	1	0	1	25	242	0	48	1	1	25	365	0	48	2		0	0	0	0	0	2	1	9.999998e-01	25	236	0	48	2								-3.318794	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.720000	1.000000	1.000000	0.961601	0.990000	1	8.900000e-01	1
ATP6V1B2	526	broad.mit.edu	37	8	20072363	20072363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20072363G>A	ENST00000276390.2	+	10	1002	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2			9				Gallium nitrate(DB05260)	CCTGGTCGACGAGGTTTTCCA	0.463000													Pancreas(119;1230 1726 3901 4036 31644)											0							SO:0001583	missense			ENST00000276390.2	1	1	hg19	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	G	37	6.027307	0.97216	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.77620	-1.11	5.3	5.3	0.74995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.89658	3.05	0.80722	D	1	D	0.59767	0.986	B	0.43194	0.411	D	0.88191	0.2877	10	0.87932	D	0	-14.2941	17.8874	0.88861	0.0:0.0:1.0:0.0	.	321	P21281	VATB2_HUMAN	Q	321;195	ENSP00000276390:R321Q	ENSP00000276390:R321Q	R	+	2	0	ATP6V1B2	20116643	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	1	0	1	59	230	0	76	1	1	31	301	0	76	2		0	0	0	0	0	2	1	1	57	228	0	76	2								-3.407689	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LZTS1	11178	broad.mit.edu	37	8	20110415	20110415	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110415G>A	ENST00000381569.1	-	3	1384	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1			29					CGGAGCTGCCGCTTCTCCTGC	0.647000																								0							SO:0001583	missense			ENST00000381569.1	1	1	hg19	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101228	0.56183	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25912	2.09;2.09;1.77	5.45	3.44	0.39384	.	0.253086	0.40640	N	0.001051	T	0.34716	0.0907	L	0.52573	1.65	0.30304	N	0.789216	D;D	0.69078	0.997;0.991	P;B	0.52856	0.711;0.332	T	0.37220	-0.9715	10	0.87932	D	0	-60.708	13.3416	0.60549	0.0:0.0:0.7027:0.2973	.	343;343	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	343	ENSP00000370981:R343W;ENSP00000265801:R343W;ENSP00000429263:R343W	ENSP00000265801:R343W	R	-	1	2	LZTS1	20154695	0.971000	0.33674	1.000000	0.80357	0.883000	0.51084	0.166000	0.16583	1.282000	0.44496	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	1	0	1	38	197	0	38	0	9.240744e-01	0	25	0	38	2		0	0	0	0	0	2	1	1	37	192	0	36	2								-20.000000	1	1	121366	4	33	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
LZTS1	11178	broad.mit.edu	37	8	20110763	20110763	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110763G>A	ENST00000381569.1	-	3	1036	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	LZTS1_ENST00000265801.6_Silent_p.L227L|LZTS1_ENST00000522290.1_Silent_p.L227L			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1			29					AGAGCCTTCAGGCTCATCATG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000381569.1	1	1	hg19	CCDS6015.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	1	0	1	93	361	0	94	0	9.876684e-01	0	29	0	94	2		0	0	0	0	0	2	1	1	93	360	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYOM2	9172	broad.mit.edu	37	8	2092671	2092671	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2092671C>T	ENST00000262113.4	+	37	4305	c.4164C>T	c.(4162-4164)agC>agT	p.S1388S	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.S813S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2			104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)			TCCAGCTCAGCGAGCACTTCT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000262113.4	1	1	hg19	CCDS5957.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	0	0	0	18	465	1	107	0	1.713516e-01	1	34	1	107	3		0	0	0	0	0	2	1	6.863953e-01	18	460	1	107	16								-3.680519	1	1	121412	3	40	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.450000	0.270000	1.000000	0.440000	0.489263	0.450000	0	3.500000e-01	5.900000e-01
GFRA2	2675	broad.mit.edu	37	8	21608179	21608179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21608179G>A	ENST00000524240.1	-	4	1365	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S|GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S|GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2			7					GAGCAGCTGGGCAGGATGGTT	0.662000																								0							SO:0001583	missense			ENST00000524240.1	1	1	hg19	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530210	0.85706	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	4.78	4.78	0.61160	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;0.986;1.0	P;P;D	0.75020	0.906;0.726;0.985	D	0.84576	0.0658	10	0.87932	D	0	-23.9515	17.4162	0.87500	0.0:0.0:1.0:0.0	.	106;134;239	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	S	239;134;239;106;134;239	ENSP00000428518:P239S;ENSP00000383592:P134S;ENSP00000429445:P239S;ENSP00000429206:P106S;ENSP00000429979:P134S;ENSP00000428721:P239S	ENSP00000383592:P134S	P	-	1	0	GFRA2	21652459	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.869000	0.99810	2.199000	0.70637	0.313000	0.20887	CCC		TCGA-IB-7651-01A-11D-2154-08	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	1	0	0	28	183	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	1	28	177	0	33	2								-20.000000	1	1	121242	1	25	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999092	0.990000	1	9.900000e-01	1
XPO7	23039	broad.mit.edu	37	8	21840243	21840243	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21840243C>T	ENST00000252512.9	+	11	1297	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	XPO7_ENST00000433566.4_Silent_p.P400P|XPO7_ENST00000434536.1_Silent_p.P408P	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7			36					CCACAGAGCCCCACATGCTGG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000252512.9	1	1	hg19	CCDS47818.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	1	0	1	77	361	0	94	1	1	31	115	0	94	2		0	0	0	0	0	2	1	1	77	355	0	94	2								-2.572687	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPO7	23039	broad.mit.edu	37	8	21844746	21844746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21844746C>T	ENST00000252512.9	+	14	1772	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C	XPO7_ENST00000433566.4_Missense_Mutation_p.R559C|XPO7_ENST00000434536.1_Missense_Mutation_p.R567C	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7			36					TGAACAGTTTCGTAAGATCTA	0.483000																								0							SO:0001583	missense			ENST00000252512.9	1	1	hg19	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203070	0.58234	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65178	-0.14;-0.14;-0.14	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.89214	3.015	0.80722	D	1	P;P;P	0.49358	0.877;0.923;0.923	B;P;P	0.53450	0.313;0.726;0.726	T	0.78201	-0.2296	10	0.38643	T	0.18	-8.456	14.4657	0.67482	0.1471:0.8529:0.0:0.0	.	559;567;558	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	C	567;558;559	ENSP00000404853:R567C;ENSP00000252512:R558C;ENSP00000410249:R559C	ENSP00000252512:R558C	R	+	1	0	XPO7	21900692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.720000	0.54933	2.732000	0.93576	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	1	0	1	86	422	0	98	1	1	52	147	0	98	2		0	0	0	0	0	2	1	1	85	411	0	98	2								-3.036800	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM160B2	64760	broad.mit.edu	37	8	21955759	21955759	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21955759C>A	ENST00000289921.7	+	6	752	c.706C>A	c.(706-708)Ctg>Atg	p.L236M		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2			9					GACCGAGGAGCTGGACGGTGG	0.652000																								0							SO:0001583	missense			ENST00000289921.7	1	1	hg19	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	13.92	2.380408	0.42207	.	.	ENSG00000158863	ENST00000289921	T	0.30182	1.54	5.07	4.17	0.49024	.	0.628857	0.16973	N	0.192038	T	0.30885	0.0779	N	0.22421	0.69	0.22389	N	0.999147	P	0.34892	0.474	P	0.46419	0.516	T	0.25710	-1.0124	10	0.49607	T	0.09	-2.3581	10.7464	0.46183	0.1901:0.8099:0.0:0.0	.	236	Q86V87	F16B2_HUMAN	M	236	ENSP00000289921:L236M	ENSP00000289921:L236M	L	+	1	2	FAM160B2	22011705	0.891000	0.30450	0.272000	0.24630	0.018000	0.09664	1.361000	0.34136	1.089000	0.41292	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2	1	0	1	14	61	0	13	1	9.999980e-01	24	101	0	13	2		0	0	0	0	0	2	1	9.998539e-01	14	61	0	13	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999084	0.990000	1	9.900000e-01	1
NUDT18	79873	broad.mit.edu	37	8	21965776	21965776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21965776C>A	ENST00000309188.6	-	4	362	c.244G>T	c.(244-246)Gag>Tag	p.E82*	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Nonsense_Mutation_p.E5*	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18			4					ACGATGGTCTCCCCTGGCTCC	0.672000																								0							SO:0001587	stop_gained			ENST00000309188.6	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.090209|6.090209	0.97271|0.97271	.|.	.|.	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|T	.|0.13307	.|2.6	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.32704	.|0.0838	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33317	.|-0.9873	.|5	0.87932|0.87932	D|D	0|0	0.0307|0.0307	16.0045|16.0045	0.80349|0.80349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	5;82|117	.|ENSP00000430117:G117V	ENSP00000307852:E82X|ENSP00000430117:G117V	E|G	-|-	1|2	0|0	NUDT18|NUDT18	22021721|22021721	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.958000|0.958000	0.62258|0.62258	4.586000|4.586000	0.60984|0.60984	2.387000|2.387000	0.81309|0.81309	0.561000|0.561000	0.74099|0.74099	GAG|GGA		TCGA-IB-7651-01A-11D-2154-08	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	6	33	0	9	1	9.836883e-01	2	45	0	9	2		0	0	0	0	0	2	1	9.635627e-01	6	31	0	9	2								-13.267190	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.690000	1.000000	1.000000	0.975858	0.990000	1	9.900000e-01	1
HR	55806	broad.mit.edu	37	8	21982906	21982906	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982906C>T	ENST00000381418.4	-	5	3148	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	HR_ENST00000312841.8_Silent_p.K556K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated			27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)			TGAGCAGGTGCTTGGCGAGGC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000381418.4	0	1	hg19	CCDS6022.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	0	16	78	0	8	0	3.585280e-01	1	6	0	8	2		0	0	0	0	0	2	1	9.999570e-01	16	77	0	8	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999100	0.990000	1	9.900000e-01	1
HR	55806	broad.mit.edu	37	8	21982977	21982977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982977C>A	ENST00000381418.4	-	5	3077	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	HR_ENST00000312841.8_Missense_Mutation_p.A533S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated			27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)			GAGTTGGTGGCTGTGTCTTCC	0.677000																								0							SO:0001583	missense			ENST00000381418.4	1	1	hg19	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372195	0.24857	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71341	-0.55;-0.56	4.77	1.71	0.24356	.	1.715950	0.03661	N	0.242548	T	0.56171	0.1967	L	0.31294	0.92	0.09310	N	1	B;B	0.16603	0.018;0.006	B;B	0.14578	0.011;0.005	T	0.32348	-0.9910	10	0.07990	T	0.79	0.1831	6.766	0.23566	0.339:0.4494:0.2116:0.0	.	533;533	O43593-2;O43593	.;HAIR_HUMAN	S	533	ENSP00000370826:A533S;ENSP00000326765:A533S	ENSP00000326765:A533S	A	-	1	0	HR	22038922	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.368000	0.07543	0.087000	0.17167	0.462000	0.41574	GCC		TCGA-IB-7651-01A-11D-2154-08	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	1	26	133	0	29	1	2.668729e-01	2	4	0	29	2		0	0	0	0	0	2	1	1	26	132	0	29	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999896	0.990000	1	9.900000e-01	1
HR	55806	broad.mit.edu	37	8	21985060	21985060	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21985060C>T	ENST00000381418.4	-	3	2375	c.895G>A	c.(895-897)Gat>Aat	p.D299N	HR_ENST00000312841.8_Missense_Mutation_p.D299N|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated			27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)			AGGTTCCCATCGCCTGGCCCA	0.657000																								0							SO:0001583	missense			ENST00000381418.4	1	1	hg19	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	1.900	-0.453240	0.04540	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70749	-0.51;-0.51	5.8	-0.854	0.10705	.	0.683555	0.14524	N	0.314266	T	0.40322	0.1112	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28038	-1.0056	10	0.08179	T	0.78	0.2563	9.1659	0.37052	0.0:0.3252:0.0:0.6748	.	299;299	O43593-2;O43593	.;HAIR_HUMAN	N	299	ENSP00000370826:D299N;ENSP00000326765:D299N	ENSP00000326765:D299N	D	-	1	0	HR	22041005	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	-0.153000	0.10144	-0.295000	0.08960	-0.672000	0.03802	GAT		TCGA-IB-7651-01A-11D-2154-08	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	1	67	283	0	42	1	3.266653e-01	3	3	0	42	2		0	0	0	0	0	2	1	1	66	280	0	41	2								-20.000000	1	1	121378	3	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HR	55806	broad.mit.edu	37	8	21986450	21986450	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986450G>A	ENST00000381418.4	-	2	1714	c.234C>T	c.(232-234)ggC>ggT	p.G78G	HR_ENST00000312841.8_Silent_p.G78G|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated			27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)			GGGGGCCCTCGCCCTCCACAA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000381418.4	1	1	hg19	CCDS6022.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	1	65	264	0	58	1	5.592831e-01	2	7	0	58	2		0	0	0	0	0	2	1	1	61	263	0	57	2								-3.601163	1	0	121408	5	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HR	55806	broad.mit.edu	37	8	21986527	21986527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986527C>T	ENST00000381418.4	-	2	1637	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	HR_ENST00000312841.8_Missense_Mutation_p.V53I|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated			27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)			GTGCTCAGGACGCCCCTCCAA	0.677000																								0							SO:0001583	missense			ENST00000381418.4	1	1	hg19	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	2.361	-0.346539	0.05208	0.0	1.16E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71934	-0.61;-0.61	4.8	-1.78	0.07957	.	1.199030	0.06230	N	0.688518	T	0.52869	0.1761	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.25606	-1.0127	10	0.26408	T	0.33	-1.6763	5.5637	0.17158	0.1308:0.4348:0.0:0.4344	.	53;53;53	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	I	53	ENSP00000370826:V53I;ENSP00000326765:V53I	ENSP00000326765:V53I	V	-	1	0	HR	22042472	0.001000	0.12720	0.378000	0.26068	0.138000	0.21146	-0.610000	0.05629	-0.500000	0.06614	-2.069000	0.00389	GTC		TCGA-IB-7651-01A-11D-2154-08	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	1	64	286	0	48	1	5.731063e-01	2	8	0	48	2		0	0	0	0	0	2	1	1	63	281	0	46	2								-20.000000	1	0	121400	1	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
REEP4	80346	broad.mit.edu	37	8	21997708	21997708	+	Silent	SNP	G	G	A	rs146312249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21997708G>A	ENST00000306306.3	-	3	627	c.159C>T	c.(157-159)atC>atT	p.I53I	REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4			7					TGTCTGTAACGATCTCTGCTG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000306306.3	0	1	hg19	CCDS6024.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	0	0	0	10	352	0	57	1	9.339081e-01	3	165	0	57	2		0	0	0	0	0	2	1	9.967588e-01	10	347	0	57	2								-3.645360	1	1	121412	5	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.330000	0.160000	0.550000	0.320000	0.346215	0.330000	0	2.300000e-01	4.400000e-01
BMP1	649	broad.mit.edu	37	8	22037910	22037910	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22037910G>A	ENST00000306385.5	+	8	1661	c.991G>A	c.(991-993)Ggc>Agc	p.G331S	BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S|BMP1_ENST00000397814.3_Missense_Mutation_p.G331S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					AGACAGCACAGGCAACTTCTC	0.602000																								0							SO:0001583	missense			ENST00000306385.5	1	1	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623558	0.96660	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.66	5.66	0.87406	CUB (5);	0.000000	0.39146	U	0.001449	T	0.80675	0.4668	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	0.979;1.0;1.0;0.999	D;D;D;D	0.97110	0.912;1.0;0.99;0.985	D	0.85208	0.1019	10	0.72032	D	0.01	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	331;404;331;331	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	S	331	ENSP00000305714:G331S;ENSP00000380917:G331S;ENSP00000306121:G331S;ENSP00000380915:G331S	ENSP00000306121:G331S	G	+	1	0	BMP1	22093855	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	9.809000	0.99208	2.665000	0.90641	0.561000	0.74099	GGC		TCGA-IB-7651-01A-11D-2154-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	0	96	934	0	237	1	9.999739e-01	7	136	0	237	2		0	0	0	0	0	2	1	1	94	922	0	234	2								-19.999960	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.880000	1.000000	1.000000	0.988713	0.990000	1	9.700000e-01	1
BMP1	649	broad.mit.edu	37	8	22053064	22053064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22053064G>A	ENST00000306385.5	+	13	2399	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R|BMP1_ENST00000397814.3_Missense_Mutation_p.G577R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					CTGTGACCCCGGGTACGAGCT	0.662000																								0							SO:0001583	missense			ENST00000306385.5	1	1	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080077	0.94050	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	D;D;D;D	0.98264	-3.07;-4.83;-4.83;-4.83	5.19	5.19	0.71726	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39341	U	0.001400	D	0.99187	0.9718	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.77557	0.984;0.985;0.99;0.887	D	0.99312	1.0904	10	0.87932	D	0	.	17.476	0.87659	0.0:0.0:1.0:0.0	.	577;650;577;577	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	R	577	ENSP00000305714:G577R;ENSP00000380917:G577R;ENSP00000306121:G577R;ENSP00000380915:G577R	ENSP00000306121:G577R	G	+	1	0	BMP1	22109009	1.000000	0.71417	0.354000	0.25760	0.940000	0.58332	9.843000	0.99491	2.419000	0.82065	0.563000	0.77884	GGG		TCGA-IB-7651-01A-11D-2154-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	0	29	450	0	66	1	9.942884e-01	4	122	0	66	2		0	0	0	0	0	2	1	1	29	436	0	64	2								-2.540688	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.700000	0.480000	0.960000	0.690000	0.715966	0.700000	0	5.800000e-01	8.400000e-01
BMP1	649	broad.mit.edu	37	8	22059428	22059428	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22059428C>T	ENST00000306385.5	+	16	2890	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					ACAACAAGCACGACTGCAAAG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000306385.5	1	1	hg19	CCDS6026.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1	16	101	0	34	1	9.997071e-01	14	78	0	34	2		0	0	0	0	0	2	1	9.999483e-01	16	99	0	33	2								-20.000000	1	1	121396	6	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.930000	1.000000	1.000000	0.995703	0.990000	1	9.900000e-01	1
BMP1	649	broad.mit.edu	37	8	22064400	22064400	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22064400G>A	ENST00000306385.5	+	17	2937	c.2267G>A	c.(2266-2268)gGt>gAt	p.G756D	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					TCCACCAGTGGTACCATCACC	0.622000																								0							SO:0001583	missense			ENST00000306385.5	1	1	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652649	0.88056	.	.	ENSG00000168487	ENST00000306385	T	0.50548	0.74	4.0	4.0	0.46444	CUB (5);	0.000000	0.39341	U	0.001397	T	0.78464	0.4287	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86443	0.1768	10	0.72032	D	0.01	.	15.0597	0.71942	0.0:0.0:1.0:0.0	.	756	P13497	BMP1_HUMAN	D	756	ENSP00000305714:G756D	ENSP00000305714:G756D	G	+	2	0	BMP1	22120345	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.640000	0.98453	2.052000	0.61016	0.462000	0.41574	GGT		TCGA-IB-7651-01A-11D-2154-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1	54	236	0	43	1	9.999875e-01	11	65	0	43	2		0	0	0	0	0	2	1	1	53	231	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP1	649	broad.mit.edu	37	8	22067082	22067082	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22067082C>T	ENST00000306385.5	+	19	3370	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					AGGAAGGCTACGGCGTGGAGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000306385.5	1	1	hg19	CCDS6026.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	1	0	1	171	819	0	153	1	9.999996e-01	15	83	0	153	2		0	0	0	0	0	2	1	1	170	806	0	149	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMP1	649	broad.mit.edu	37	8	22069241	22069241	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22069241A>G	ENST00000306385.5	+	20	3631	c.2961A>G	c.(2959-2961)tgA>tgG	p.*987W	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					GCAGGAAGTGACCACTGCCTG	0.602000																								0							SO:0001578	stop_lost			ENST00000306385.5	0	1	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471565	0.63737	.	.	ENSG00000168487	ENST00000306385	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0626	0.59015	1.0:0.0:0.0:0.0	.	.	.	.	W	987	.	.	X	+	3	0	BMP1	22125186	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	8.924000	0.92827	1.924000	0.55735	0.533000	0.62120	TGA		TCGA-IB-7651-01A-11D-2154-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	0	1	70	343	0	83	1	9.999989e-01	13	85	0	83	2		0	0	0	0	0	2	1	1	70	333	0	83	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHYHIP	9796	broad.mit.edu	37	8	22079169	22079169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22079169C>T	ENST00000321613.3	-	6	1146	c.690G>A	c.(688-690)acG>acA	p.T230T	PHYHIP_ENST00000454243.2_Silent_p.T230T	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein			10					AGTGGTAGGCCGTGTACATGC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000321613.3	0	1	hg19	CCDS43723.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	1	0	1	17	129	0	17	1	9.963464e-01	3	70	0	17	2		0	0	0	0	0	2	1	9.999666e-01	15	126	0	17	2								-9.249905	1	1	120984	4	31	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.820000	1.000000	1.000000	0.987872	0.990000	1	9.900000e-01	1
PIWIL2	55124	broad.mit.edu	37	8	22140627	22140627	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22140627A>C	ENST00000454009.2	+	5	1015	c.506A>C	c.(505-507)aAg>aCg	p.K169T	PIWIL2_ENST00000356766.6_Missense_Mutation_p.K169T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.K169T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2			46					GAAGTGGACAAGCCTCCCTGT	0.587000																								0							SO:0001583	missense			ENST00000454009.2	1	1	hg19	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829594	0.32329	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04970	3.53;3.52;3.53	5.52	3.12	0.35913	.	0.889113	0.09620	N	0.777691	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.01	T	0.48340	-0.9044	10	0.16420	T	0.52	-20.0075	6.8642	0.24084	0.8062:0.0:0.1938:0.0	.	169;169	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	169	ENSP00000349208:K169T;ENSP00000428267:K169T;ENSP00000406956:K169T	ENSP00000349208:K169T	K	+	2	0	PIWIL2	22196572	0.376000	0.25098	0.218000	0.23776	0.121000	0.20230	1.893000	0.39758	0.472000	0.27344	-0.263000	0.10527	AAG		TCGA-IB-7651-01A-11D-2154-08	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1	1	0	1	46	246	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	45	239	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
PIWIL2	55124	broad.mit.edu	37	8	22161539	22161539	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22161539C>A	ENST00000454009.2	+	11	1696	c.1187C>A	c.(1186-1188)gCc>gAc	p.A396D	PIWIL2_ENST00000356766.6_Missense_Mutation_p.A396D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A396D	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2			46					CAAAGGCATGCCATTTATCAG	0.373000																								0							SO:0001583	missense			ENST00000454009.2	1	1	hg19	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	5.493	0.276038	0.10403	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13307	2.6;2.6;2.6	5.78	4.91	0.64330	Argonaute/Dicer protein, PAZ (3);	0.451135	0.26082	N	0.026456	T	0.05686	0.0149	N	0.04260	-0.245	0.36010	D	0.837998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.24977	-1.0145	10	0.08381	T	0.77	-47.1199	10.3046	0.43672	0.0:0.8473:0.0:0.1527	.	396;396	E7ECA4;Q8TC59	.;PIWL2_HUMAN	D	396	ENSP00000349208:A396D;ENSP00000428267:A396D;ENSP00000406956:A396D	ENSP00000349208:A396D	A	+	2	0	PIWIL2	22217484	0.600000	0.26899	0.998000	0.56505	0.726000	0.41606	1.119000	0.31258	1.595000	0.50050	-0.229000	0.12294	GCC		TCGA-IB-7651-01A-11D-2154-08	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1	1	0	1	63	303	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1	60	295	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIWIL2	55124	broad.mit.edu	37	8	22168639	22168639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22168639C>A	ENST00000454009.2	+	16	2324	c.1815C>A	c.(1813-1815)ttC>ttA	p.F605L	PIWIL2_ENST00000356766.6_Missense_Mutation_p.F605L|PIWIL2_ENST00000521356.1_Missense_Mutation_p.F605L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2			46					CCATGCATTTCTGGGCACTTT	0.418000																								0							SO:0001583	missense			ENST00000454009.2	1	1	hg19	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	9.487	1.099794	0.20552	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.08102	3.13;3.13;3.13	5.8	4.01	0.46588	Ribonuclease H-like (1);	0.270137	0.43416	D	0.000575	T	0.08626	0.0214	M	0.63428	1.95	0.38202	D	0.940228	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.14117	-1.0484	10	0.09590	T	0.72	-1.5471	8.6361	0.33948	0.0:0.7649:0.0:0.2351	.	605;605	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	605	ENSP00000349208:F605L;ENSP00000428267:F605L;ENSP00000406956:F605L	ENSP00000349208:F605L	F	+	3	2	PIWIL2	22224584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.638000	0.37165	0.798000	0.33994	0.561000	0.74099	TTC		TCGA-IB-7651-01A-11D-2154-08	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1	1	0	1	120	501	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	115	487	0	119	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP3CC	5533	broad.mit.edu	37	8	22355569	22355569	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22355569T>G	ENST00000240139.5	+	4	755	c.428T>G	c.(427-429)cTt>cGt	p.L143R	PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R|PPP3CC_ENST00000289963.8_Missense_Mutation_p.L143R|PPP3CC_ENST00000397775.3_Missense_Mutation_p.L143R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme			17		Prostate(55;0.104)			TTGTTTCTGCTTCGGGGAAAT	0.333000																								0							SO:0001583	missense			ENST00000240139.5	0	1	hg19	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.666485|4.666485	0.88251|0.88251	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775	.|T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	.|0.058467	.|0.64402	.|D	.|0.000002	T|T	0.58680|0.58680	0.2139|0.2139	H|H	0.99956|0.99956	5.05|5.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.994;0.997;0.994	T|T	0.80377|0.80377	-0.1408|-0.1408	5|10	.|0.87932	.|D	.|0	-11.9987|-11.9987	15.3614|15.3614	0.74478|0.74478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|143;143;143;143	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	V|R	20|143	.|ENSP00000429379:L143R;ENSP00000240139:L143R;ENSP00000289963:L143R;ENSP00000380878:L143R	.|ENSP00000240139:L143R	F|L	+|+	1|2	0|0	PPP3CC|PPP3CC	22411514|22411514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.687000|7.687000	0.84139|0.84139	2.267000|2.267000	0.75376|0.75376	0.533000|0.533000	0.62120|0.62120	TTC|CTT		TCGA-IB-7651-01A-11D-2154-08	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	0	0	0	7	321	0	78	0	6.406027e-01	1	95	0	78	2		0	0	0	0	0	2	1	9.798112e-01	7	316	0	77	2								-7.516677	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.260000	0.110000	0.480000	0.240000	0.277314	0.260000	0	1.700000e-01	3.700000e-01
PDLIM2	64236	broad.mit.edu	37	8	22439020	22439020	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22439020G>A	ENST00000397760.4	+	3	622	c.222G>A	c.(220-222)tcG>tcA	p.S74S	PDLIM2_ENST00000265810.4_Silent_p.S74S|PDLIM2_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S|PDLIM2_ENST00000409141.1_Silent_p.S74S			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)			9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)			AGAGCCCCTCGCCCCTGCGGC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000397760.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1	1	0	1	15	110	0	27	1	9.922947e-01	6	57	0	27	2		0	0	0	0	0	2	1	9.998941e-01	15	108	0	26	2								-19.999800	1	1	121220	4	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.810000	1.000000	1.000000	0.987617	0.990000	1	9.900000e-01	1
C8orf58	541565	broad.mit.edu	37	8	22458661	22458661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22458661G>A	ENST00000289989.5	+	2	381	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	C8orf58_ENST00000409586.3_Missense_Mutation_p.A103T|C8orf58_ENST00000453427.2_3'UTR			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58			4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)			TGAGCCCCCCGCCCAGGTAGG	0.657000																								0							SO:0001583	missense			ENST00000289989.5	1	1	hg19	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.753780	0.31046	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.91	1.93	0.25924	.	0.507370	0.16623	N	0.206407	T	0.33381	0.0861	M	0.63428	1.95	0.09310	N	1	P;D;P	0.62365	0.951;0.991;0.951	B;P;B	0.44518	0.32;0.452;0.32	T	0.26360	-1.0105	9	0.72032	D	0.01	-4.5702	5.0944	0.14725	0.1185:0.2122:0.6693:0.0	.	103;31;103	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	T	172;103;103;31	.	ENSP00000399696:A172T	A	+	1	0	AC037459.4;C8orf58	22514606	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.336000	0.19823	0.993000	0.38866	-0.406000	0.06334	GCC		TCGA-IB-7651-01A-11D-2154-08	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	1	0	1	22	126	0	24	1	9.834229e-01	18	23	0	24	2		0	0	0	0	0	2	1	9.999992e-01	22	124	0	23	2								-20.000000	1	1	120728	1	26	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999314	0.990000	1	9.900000e-01	1
EGR3	1960	broad.mit.edu	37	8	22548815	22548815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22548815C>T	ENST00000317216.2	-	2	692	c.335G>A	c.(334-336)gGg>gAg	p.G112E	EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3			10		Prostate(55;0.0421)|Breast(100;0.102)			CGGGGGCACCCCCAAGATGCC	0.637000																								0							SO:0001583	missense			ENST00000317216.2	1	1	hg19	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697254	0.68386	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.27720	1.65;1.65	5.39	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57780	-0.7752	10	0.87932	D	0	-14.7611	12.5883	0.56430	0.1667:0.8333:0.0:0.0	.	74;112	E7EW38;Q06889	.;EGR3_HUMAN	E	112;74	ENSP00000318057:G112E;ENSP00000430310:G74E	ENSP00000318057:G112E	G	-	2	0	EGR3	22604760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.840000	0.62817	2.517000	0.84864	0.462000	0.41574	GGG		TCGA-IB-7651-01A-11D-2154-08	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	1	0	1	73	327	0	70	1	7.861418e-01	3	12	0	70	2		0	0	0	0	0	2	1	1	73	323	0	70	2								-3.174024	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOBTB2	23221	broad.mit.edu	37	8	22864647	22864647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864647C>A	ENST00000251822.6	+	5	1426	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2			31		Prostate(55;0.0513)|Breast(100;0.214)			TGACCTGTTCCTCATGGACCT	0.627000																								0							SO:0001583	missense			ENST00000251822.6	1	1	hg19	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209694	0.39003	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09817	2.94;2.95;2.95	5.34	4.46	0.54185	BTB/POZ-like (2);BTB/POZ fold (2);	0.167226	0.52532	D	0.000062	T	0.12347	0.0300	L	0.48642	1.525	0.39048	D	0.960263	B;B;B	0.17852	0.024;0.024;0.024	B;B;B	0.23716	0.048;0.033;0.048	T	0.04294	-1.0962	10	0.49607	T	0.09	.	12.4783	0.55827	0.0:0.9185:0.0:0.0815	.	304;297;319	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	I	319;304;297	ENSP00000427926:L319I;ENSP00000429141:L304I;ENSP00000251822:L297I	ENSP00000251822:L297I	L	+	1	0	RHOBTB2	22920592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.235000	0.32671	1.224000	0.43551	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2	1	0	1	130	561	0	103	1	9.975982e-01	12	29	0	103	2		0	0	0	0	0	2	1	1	130	552	0	101	2								-2.886910	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RHOBTB2	23221	broad.mit.edu	37	8	22864733	22864733	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864733A>G	ENST00000251822.6	+	5	1512	c.975A>G	c.(973-975)caA>caG	p.Q325Q	RHOBTB2_ENST00000519685.1_Silent_p.Q347Q|RHOBTB2_ENST00000522948.1_Silent_p.Q332Q|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2			31		Prostate(55;0.0513)|Breast(100;0.214)			ACTCTGATCAAcaccaccacc	0.652000																								0							SO:0001819	synonymous_variant			ENST00000251822.6	1	1	hg19	CCDS6034.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2	1	0	1	84	289	0	68	1	9.999988e-01	16	55	0	68	2		0	0	0	0	0	2	1	1	84	281	0	68	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFRSF10B	8795	broad.mit.edu	37	8	22884752	22884752	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22884752C>T	ENST00000276431.4	-	7	1114	c.830G>A	c.(829-831)aGt>aAt	p.S277N	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N|TNFRSF10B_ENST00000519910.1_5'Flank	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b			15		Prostate(55;0.0421)|Breast(100;0.067)			CTGCAAGATACTCACGATCTC	0.547000													GBM(94;1064 1342 1839 21060 42553)											0							SO:0001583	missense			ENST00000276431.4	1	1	hg19	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	6.689	0.495734	0.12762	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;T	0.86769	-1.91;-2.17;2.71	2.5	-3.9	0.04181	.	7739.210000	0.00166	U	0.000000	T	0.77658	0.4163	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.33549	0.386;0.417;0.126;0.2;0.236	B;B;B;B;B	0.30782	0.075;0.052;0.038;0.12;0.031	T	0.62774	-0.6783	10	0.35671	T	0.21	.	0.879	0.01230	0.1718:0.2412:0.3395:0.2476	.	97;277;277;248;42	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	N	277;248;97	ENSP00000276431:S277N;ENSP00000317859:S248N;ENSP00000443386:S97N	ENSP00000276431:S277N	S	-	2	0	TNFRSF10B	22940697	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.548000	0.02184	-1.047000	0.03242	-0.282000	0.10007	AGT		TCGA-IB-7651-01A-11D-2154-08	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	1	0	1	54	209	0	58	1	1	46	131	0	58	2		0	0	0	0	0	2	1	1	52	203	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFRSF10B	8795	broad.mit.edu	37	8	22887129	22887129	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22887129C>T	ENST00000276431.4	-	4	754	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b			15		Prostate(55;0.0421)|Breast(100;0.067)			TCACCCTGTGCGGCACTTCCG	0.592000													GBM(94;1064 1342 1839 21060 42553)											0							SO:0001583	missense			ENST00000276431.4	0	1	hg19	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	9.154	1.017022	0.19355	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.31510	1.49;1.49;1.49	3.65	-4.47	0.03525	TNFR/CD27/30/40/95 cysteine-rich region (3);	3.140280	0.02103	U	0.054152	T	0.16896	0.0406	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.27823	0.006;0.044;0.19;0.185	B;B;B;B	0.09377	0.001;0.002;0.003;0.004	T	0.16571	-1.0398	10	0.48119	T	0.1	.	5.1719	0.15114	0.1396:0.2021:0.5525:0.1057	.	6;157;157;157	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	H	157;157;6	ENSP00000276431:R157H;ENSP00000317859:R157H;ENSP00000443386:R6H	ENSP00000276431:R157H	R	-	2	0	TNFRSF10B	22943074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.993000	0.00656	-0.682000	0.05197	-0.176000	0.13171	CGC		TCGA-IB-7651-01A-11D-2154-08	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	1	0	0	13	64	0	24	1	9.999999e-01	75	134	0	24	2		0	0	0	0	0	2	1	9.996656e-01	13	63	0	24	2								-19.999060	1	1	121396	4	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.997813	0.990000	1	9.900000e-01	1
CHMP7	91782	broad.mit.edu	37	8	23106877	23106877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23106877G>A	ENST00000397677.1	+	3	1102	c.454G>A	c.(454-456)Gct>Act	p.A152T	CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7			11		Prostate(55;0.0513)			GGTCCTTGTCGCTGTGGAGCT	0.537000																								0							SO:0001583	missense			ENST00000397677.1	1	1	hg19	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122858	0.20959	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57907	0.37;0.37	5.54	3.76	0.43208	.	0.246954	0.41500	D	0.000870	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	P	0.42973	0.796	B	0.27076	0.076	T	0.10382	-1.0632	10	0.36615	T	0.2	-7.9022	4.5343	0.12020	0.2407:0.0:0.6043:0.1551	.	152	Q8WUX9	CHMP7_HUMAN	T	152	ENSP00000380794:A152T;ENSP00000324491:A152T	ENSP00000324491:A152T	A	+	1	0	CHMP7	23162822	1.000000	0.71417	0.167000	0.22817	0.905000	0.53344	4.750000	0.62162	0.718000	0.32166	-0.218000	0.12543	GCT		TCGA-IB-7651-01A-11D-2154-08	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	1	0	1	29	150	0	31	1	1	49	143	0	31	2		0	0	0	0	0	2	1	1	29	149	0	31	2								-16.796800	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
CHMP7	91782	broad.mit.edu	37	8	23117748	23117748	+	Silent	SNP	T	T	C	rs139217760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117748T>C	ENST00000397677.1	+	10	1860	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	CHMP7_ENST00000313219.7_Silent_p.N404N|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7			11		Prostate(55;0.0513)			ACCCCCGCAATAGGCATTTTA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000397677.1	0	1	hg19	CCDS6040.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	0	0	0	8	525	0	93	1	8.512099e-01	5	223	0	93	2		0	0	0	0	0	2	1	9.890491e-01	8	520	0	92	2								-7.049237	1	0	121412	7	41	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.180000	0.080000	0.320000	0.170000	0.193634	0.180000	0	1.200000e-01	2.500000e-01
CHMP7	91782	broad.mit.edu	37	8	23117774	23117774	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117774A>G	ENST00000397677.1	+	10	1886	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	p.P412fs*4(1)		11		Prostate(55;0.0513)			AGCGTGCCTAACCCTAGGATC	0.488000																								1	Deletion - Frameshift(1)						SO:0001583	missense			ENST00000397677.1	1	1	hg19	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	A	4.748	0.139071	0.09083	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57107	0.42;0.42	5.44	-4.02	0.04034	.	1.434510	0.03399	N	0.203130	T	0.28101	0.0693	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.10064	-1.0646	10	0.10636	T	0.68	0.9774	3.5144	0.07719	0.3287:0.0:0.2761:0.3953	.	413	Q8WUX9	CHMP7_HUMAN	S	413	ENSP00000380794:N413S;ENSP00000324491:N413S	ENSP00000324491:N413S	N	+	2	0	CHMP7	23173719	0.019000	0.18553	0.839000	0.33178	0.990000	0.78478	0.070000	0.14573	-0.576000	0.05974	0.529000	0.55759	AAC		TCGA-IB-7651-01A-11D-2154-08	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	1	0	1	122	511	0	118	1	1	61	142	0	118	2		0	0	0	0	0	2	1	1	121	508	0	117	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LOXL2	4017	broad.mit.edu	37	8	23185946	23185946	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23185946G>T	ENST00000389131.3	-	6	1468	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2			35		Prostate(55;0.0453)|Breast(100;0.143)			CCAAAGCCCAGCTCTCTGCAG	0.627000																								0							SO:0001583	missense			ENST00000389131.3	1	1	hg19	CCDS34864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538091|4.538091	0.85917|0.85917	.|.	.|.	ENSG00000134013|ENSG00000134013	ENST00000389131|ENST00000520349	T|.	0.56941|.	0.43|.	5.38|5.38	4.5|4.5	0.54988|0.54988	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.64830|.	0.994|.	D|.	0.64687|.	0.928|.	T|T	0.79045|0.79045	-0.1964|-0.1964	10|5	0.62326|.	D|.	0.03|.	.|.	12.2427|12.2427	0.54553|0.54553	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	367|.	Q9Y4K0|.	LOXL2_HUMAN|.	M|R	367|83	ENSP00000373783:L367M|.	ENSP00000373783:L367M|.	L|S	-|-	1|3	2|2	LOXL2|LOXL2	23241891|23241891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.059000|4.059000	0.57470|0.57470	2.510000|2.510000	0.84645|0.84645	0.462000|0.462000	0.41574|0.41574	CTG|AGC		TCGA-IB-7651-01A-11D-2154-08	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	1	0	1	127	415	0	110	1	1	8	450	0	110	2		0	0	0	0	0	2	1	1	124	408	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LOXL2	4017	broad.mit.edu	37	8	23198655	23198655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23198655C>T	ENST00000389131.3	-	4	962	c.593G>A	c.(592-594)cGc>cAc	p.R198H	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2			35		Prostate(55;0.0453)|Breast(100;0.143)			CACTGGGGTGCGCTTGCGGTA	0.572000																								0							SO:0001583	missense			ENST00000389131.3	1	1	hg19	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029717	0.54790	.	.	ENSG00000134013	ENST00000389131	T	0.01258	5.09	5.68	4.81	0.61882	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.051494	0.85682	D	0.000000	T	0.02688	0.0081	M	0.66439	2.03	0.80722	D	1	B	0.33288	0.406	B	0.35240	0.198	T	0.54262	-0.8320	10	0.36615	T	0.2	.	11.5499	0.50715	0.0:0.9169:0.0:0.0831	.	198	Q9Y4K0	LOXL2_HUMAN	H	198	ENSP00000373783:R198H	ENSP00000373783:R198H	R	-	2	0	LOXL2	23254600	1.000000	0.71417	0.662000	0.29724	0.110000	0.19582	6.007000	0.70731	1.400000	0.46741	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	1	0	1	100	489	0	123	1	1	5	314	0	123	2		0	0	0	0	0	2	1	1	99	482	0	122	2								-20.000000	1	1	121412	3	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LOXL2	4017	broad.mit.edu	37	8	23217627	23217627	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23217627G>A	ENST00000389131.3	-	3	876	c.507C>T	c.(505-507)gaC>gaT	p.D169D	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2			35		Prostate(55;0.0453)|Breast(100;0.143)			TCAACGAATTGTCAAATTTGA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000389131.3	1	1	hg19	CCDS34864.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	1	0	1	42	289	0	59	1	1	4	361	0	59	2		0	0	0	0	0	2	1	1	41	283	0	59	2								-18.033350	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999662	0.990000	1	9.900000e-01	1
ENTPD4	9583	broad.mit.edu	37	8	23302059	23302059	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23302059T>C	ENST00000358689.4	-	5	708	c.473A>G	c.(472-474)aAc>aGc	p.N158S	ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S|ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4			25		Prostate(55;0.114)			TGCAGCAAAGTTCAAAAGTGG	0.438000																								0							SO:0001583	missense			ENST00000358689.4	1	1	hg19	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	3.244	-0.154725	0.06544	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.79	0.318	0.15867	.	0.342519	0.40554	N	0.001071	T	0.02649	0.0080	N	0.00991	-1.07	0.23969	N	0.996317	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.46775	-0.9167	10	0.07482	T	0.82	-13.5026	10.1041	0.42521	0.0:0.3229:0.0:0.6771	.	158;158;158;158	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	S	158;158;158;124	ENSP00000348536:N158S;ENSP00000351520:N158S;ENSP00000408573:N158S;ENSP00000429455:N124S	ENSP00000348536:N158S	N	-	2	0	ENTPD4	23358004	0.999000	0.42202	0.995000	0.50966	0.991000	0.79684	0.624000	0.24462	0.126000	0.18424	0.460000	0.39030	AAC		TCGA-IB-7651-01A-11D-2154-08	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	1	0	1	90	331	0	69	1	1	18	78	0	69	2		0	0	0	0	0	2	1	1	90	326	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENTPD4	9583	broad.mit.edu	37	8	23305394	23305394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23305394G>T	ENST00000358689.4	-	4	446	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M|ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4			25		Prostate(55;0.114)			ACTCGTGCCAGGTACCTTGTA	0.418000																								0							SO:0001583	missense			ENST00000358689.4	1	1	hg19	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959102	0.53400	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T	0.16457	2.34;2.35;2.36	5.81	0.734	0.18294	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.59436	1.845	0.49213	D	0.999767	D;D;D;D	0.71674	0.997;0.992;0.998;0.997	D;D;D;D	0.74674	0.965;0.945;0.984;0.973	T	0.01205	-1.1419	10	0.38643	T	0.18	-15.7581	8.388	0.32512	0.4174:0.0:0.5826:0.0	.	71;71;71;71	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	M	71;71;71;37	ENSP00000348536:L71M;ENSP00000351520:L71M;ENSP00000408573:L71M	ENSP00000348536:L71M	L	-	1	2	ENTPD4	23361339	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	0.772000	0.26647	0.127000	0.18452	-0.781000	0.03364	CTG		TCGA-IB-7651-01A-11D-2154-08	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	1	0	1	41	365	0	84	1	9.991976e-01	15	82	0	84	2		0	0	0	0	0	2	1	1	40	353	0	84	2								-3.318794	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.850000	1.000000	1.000000	0.988923	0.990000	1	9.900000e-01	1
STC1	6781	broad.mit.edu	37	8	23709021	23709021	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23709021G>T	ENST00000290271.2	-	3	568	c.285C>A	c.(283-285)agC>agA	p.S95R	STC1_ENST00000524323.1_Missense_Mutation_p.S26R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1			26		Prostate(55;0.055)|Breast(100;0.116)			TGCATTTTAAGCTCTCTTTGA	0.502000																								0							SO:0001583	missense			ENST00000290271.2	1	1	hg19	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141956	0.77775	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.75	3.95	0.45737	.	0.034660	0.85682	D	0.000000	T	0.66046	0.2750	L	0.51914	1.62	0.58432	D	0.999996	D	0.67145	0.996	P	0.62491	0.903	T	0.68857	-0.5298	9	0.72032	D	0.01	-3.9207	11.4007	0.49868	0.1487:0.0:0.8513:0.0	.	95	P52823	STC1_HUMAN	R	95;26;26	.	ENSP00000290271:S95R	S	-	3	2	STC1	23764966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	1.446000	0.47643	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1	1	0	1	46	201	0	48	1	1	3	183	0	48	2		0	0	0	0	0	2	1	1	44	199	0	48	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM28	10863	broad.mit.edu	37	8	24181515	24181515	+	Splice_Site	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24181515A>C	ENST00000265769.4	+	9	999	c.889A>C	c.(889-891)Aca>Cca	p.T297P	ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Splice_Site_p.T44P|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.T297P|ADAM28_ENST00000540823.1_Splice_Site_p.T64P	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28			42		Prostate(55;0.0959)			TCAGTTAATCACGTATGTACA	0.423000													NSCLC(193;488 2149 22258 34798 40734)											0							SO:0001630	splice_region_variant			ENST00000265769.4	1	0	hg19	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417484	0.62622	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.17	4.0	0.46444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.45895	0.1365	H	0.96805	3.885	0.58432	D	0.99999	D;D;D	0.69078	0.99;0.997;0.987	D;D;P	0.68039	0.93;0.955;0.886	T	0.52403	-0.8580	9	0.87932	D	0	.	7.4466	0.27215	0.758:0.0:0.0:0.242	.	64;297;297	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	P	297;44;64;297	ENSP00000265769:T297P;ENSP00000380770:T44P;ENSP00000443743:T64P;ENSP00000393699:T297P	ENSP00000265769:T297P	T	+	1	0	ADAM28	24237460	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.571000	0.53841	0.780000	0.33566	0.528000	0.53228	ACA		TCGA-IB-7651-01A-11D-2154-08	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	1	0	1	50	239	0	63	1	1	14	241	0	63	2		0	0	0	0	0	2	1	1	50	237	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMDEC1	27299	broad.mit.edu	37	8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24254940C>T	ENST00000256412.4	+	6	818	c.598C>T	c.(598-600)Cga>Tga	p.R200*	ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1			9		Prostate(55;0.0181)			AGGCCCAATTCGAATCTCTAG	0.433000													Ovarian(147;687 1849 3699 25981 31337)											0							SO:0001587	stop_gained			ENST00000256412.4	0	1	hg19	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349813	0.95830	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	.	.	.	5.53	4.63	0.57726	.	0.000000	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-6.4743	11.5455	0.50690	0.1789:0.8211:0.0:0.0	.	.	.	.	X	200;121;121	.	ENSP00000256412:R200X	R	+	1	2	ADAMDEC1	24310885	0.910000	0.30920	0.080000	0.20451	0.010000	0.07245	1.631000	0.37092	1.297000	0.44761	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	1	0	1	144	622	0	137	0	1	0	129	0	137	2		0	0	0	0	0	2	1	1	142	611	0	136	2								-20.000000	1	1	121412	2	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM7	8756	broad.mit.edu	37	8	24342814	24342814	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24342814G>A	ENST00000175238.6	+	10	983	c.900G>A	c.(898-900)gtG>gtA	p.V300V	ADAM7_ENST00000380789.1_Silent_p.V300V|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Silent_p.V72V|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	p.V300V(1)		64		Prostate(55;0.0181)			ACTCACATGTGCAAGGAATTT	0.353000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000175238.6	1	1	hg19	CCDS6045.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	1	0	1	81	481	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	80	469	0	100	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM7	8756	broad.mit.edu	37	8	24346730	24346730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24346730G>A	ENST00000175238.6	+	12	1233	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7			64		Prostate(55;0.0181)			GTACTTGAAGGATTATAAGCC	0.353000																								0							SO:0001583	missense			ENST00000175238.6	1	1	hg19	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248736	0.22880	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.62364	0.03;0.03;0.03	5.74	1.98	0.26296	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.215318	0.32343	N	0.006233	T	0.38692	0.1050	N	0.11892	0.195	0.09310	N	1	B;B	0.25048	0.046;0.117	B;B	0.31812	0.027;0.136	T	0.30090	-0.9990	10	0.09338	T	0.73	.	8.2486	0.31704	0.3886:0.0:0.6114:0.0	.	156;384	E5RK87;Q9H2U9	.;ADAM7_HUMAN	N	384;384;156;199	ENSP00000175238:D384N;ENSP00000370166:D384N;ENSP00000430400:D156N	ENSP00000175238:D384N	D	+	1	0	ADAM7	24402620	0.011000	0.17503	0.008000	0.14137	0.007000	0.05969	0.470000	0.22084	0.079000	0.16929	-0.136000	0.14681	GAT		TCGA-IB-7651-01A-11D-2154-08	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	1	0	1	48	281	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	43	275	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
NEFM	4741	broad.mit.edu	37	8	24772180	24772180	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24772180T>C	ENST00000221166.5	+	1	1656	c.874T>C	c.(874-876)Ttc>Ctc	p.F292L	NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide			36		Prostate(55;0.157)			CGAAGAGTGGTTCAAATGCCG	0.597000																								0							SO:0001583	missense			ENST00000221166.5	1	1	hg19	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079353	0.94050	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91295	-2.82;-2.82;-2.82	4.69	4.69	0.59074	Filament (1);	0.000000	0.45361	D	0.000378	D	0.95092	0.8410	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95728	0.8772	10	0.87932	D	0	.	14.435	0.67274	0.0:0.0:0.0:1.0	.	292;292	E7EMV2;P07197	.;NFM_HUMAN	L	292	ENSP00000221166:F292L;ENSP00000427872:F292L;ENSP00000410137:F292L	ENSP00000221166:F292L	F	+	1	0	NEFM	24828085	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.984000	0.88150	1.873000	0.54277	0.383000	0.25322	TTC		TCGA-IB-7651-01A-11D-2154-08	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	1	0	0	19	258	0	64	0	2.899367e-02	0	4	0	64	2		0	0	0	0	0	2	1	9.999915e-01	19	256	0	64	2								-19.999810	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.790000	0.500000	1.000000	1.000000	0.801504	0.790000	0	6.300000e-01	9.800000e-01
NEFL	4747	broad.mit.edu	37	8	24813505	24813505	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813505C>T	ENST00000221169.5	-	0	1119				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide			21		Ovarian(32;0.00965)|Prostate(55;0.157)			CATAGCGCGCCTGCAGGTTGC	0.716000																								0											ENST00000221169.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	0	0	0	24	120	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	9.999998e-01	23	119	0	20	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999864	0.990000	1	9.900000e-01	1
DOCK5	80005	broad.mit.edu	37	8	25183050	25183050	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25183050G>A	ENST00000276440.7	+	18	1934	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5			72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)			GCTCCACAAAGCTCACCCAGA	0.478000													Pancreas(145;34 1887 3271 10937 30165)											0							SO:0001819	synonymous_variant			ENST00000276440.7	1	1	hg19	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043369	0.19748	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.8	2.62	0.31277	.	.	.	.	.	T	0.61899	0.2384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59123	-0.7513	4	.	.	.	.	11.7724	0.51967	0.2787:0.0:0.7213:0.0	.	.	.	.	T	402	.	.	A	+	1	0	DOCK5	25238967	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.541000	0.23207	0.803000	0.34113	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	1	0	0	58	272	0	76	1	9.987937e-01	10	40	0	76	2		0	0	0	0	0	2	1	1	57	265	0	74	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK5	80005	broad.mit.edu	37	8	25193798	25193798	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25193798G>A	ENST00000276440.7	+	22	2280	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5			72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)			TAATGCAGATGACTCCAGCAA	0.408000													Pancreas(145;34 1887 3271 10937 30165)											0							SO:0001583	missense			ENST00000276440.7	1	1	hg19	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374598	0.42105	.	.	ENSG00000147459	ENST00000276440	T	0.22336	1.96	5.76	5.76	0.90799	Armadillo-type fold (1);	0.100113	0.64402	D	0.000002	T	0.30479	0.0766	M	0.71036	2.16	0.80722	D	1	B;B;B	0.30179	0.006;0.271;0.006	B;B;B	0.30716	0.004;0.119;0.004	T	0.03095	-1.1073	10	0.39692	T	0.17	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	736;521;746	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	N	746	ENSP00000276440:D746N	ENSP00000276440:D746N	D	+	1	0	DOCK5	25249715	1.000000	0.71417	0.969000	0.41365	0.320000	0.28249	6.701000	0.74624	2.879000	0.98667	0.650000	0.86243	GAC		TCGA-IB-7651-01A-11D-2154-08	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	1	0	1	26	147	0	28	1	9.941386e-01	13	36	0	28	2		0	0	0	0	0	2	1	1	26	145	0	28	2								-14.771210	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999722	0.990000	1	9.900000e-01	1
DOCK5	80005	broad.mit.edu	37	8	25246651	25246651	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25246651G>A	ENST00000276440.7	+	41	4220	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5			72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)			AGAGGCGAGAGGACTTCAGCC	0.502000													Pancreas(145;34 1887 3271 10937 30165)											0							SO:0001819	synonymous_variant			ENST00000276440.7	1	1	hg19	CCDS6047.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	1	0	1	68	246	0	59	1	9.996753e-01	10	36	0	59	2		0	0	0	0	0	2	1	1	68	242	0	57	2								-3.805073	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNRH1	2796	broad.mit.edu	37	8	25280756	25280756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25280756G>A	ENST00000276414.4	-	1	1414	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	GNRH1_ENST00000421054.2_Missense_Mutation_p.R31C|RP11-395I14.2_ENST00000523840.1_lincRNA	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)			1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)			CCTCCAGGGCGCAGTCCATAG	0.433000																								0							SO:0001583	missense			ENST00000276414.4	0	1	hg19	CCDS43725.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757146	0.49468	.	.	ENSG00000147437	ENST00000421054;ENST00000276414	T;T	0.48836	0.8;0.8	5.18	5.18	0.71444	Gonadotropin-releasing hormone (2);	0.179711	0.39210	N	0.001430	T	0.70168	0.3193	.	.	.	0.51482	D	0.999924	D	0.89917	1.0	D	0.73380	0.98	T	0.73855	-0.3851	9	0.87932	D	0	-20.4773	17.8458	0.88730	0.0:0.0:1.0:0.0	.	31	P01148	GON1_HUMAN	C	31	ENSP00000391280:R31C;ENSP00000276414:R31C	ENSP00000276414:R31C	R	-	1	0	GNRH1	25336673	1.000000	0.71417	0.983000	0.44433	0.001000	0.01503	5.208000	0.65203	2.686000	0.91538	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	GNRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375982.1	0	0	0	17	499	0	111	0	4.666523e-02	0	10	0	111	2		0	0	0	0	0	2	1	9.999625e-01	17	493	0	110	2								-2.975897	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.380000	0.230000	0.580000	0.380000	0.399845	0.380000	0	3.000000e-01	4.900000e-01
KCTD9	54793	broad.mit.edu	37	8	25293013	25293013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25293013C>A	ENST00000221200.4	-	9	899	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9			12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)			AGATCAGCACCACTGAAGTTC	0.348000																								0							SO:0001583	missense			ENST00000221200.4	0	1	hg19	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885195	0.91814	.	.	ENSG00000104756	ENST00000221200	T	0.51817	0.69	5.54	5.54	0.83059	.	0.000000	0.85682	U	0.000000	T	0.77075	0.4077	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81739	-0.0795	10	0.87932	D	0	.	19.8472	0.96713	0.0:1.0:0.0:0.0	.	227	Q7L273	KCTD9_HUMAN	C	227	ENSP00000221200:G227C	ENSP00000221200:G227C	G	-	1	0	KCTD9	25348930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GGT		TCGA-IB-7651-01A-11D-2154-08	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	1	0	1	15	226	0	50	1	9.991106e-01	22	158	0	50	2		0	0	0	0	0	2	1	9.998673e-01	15	221	0	51	2								-2.775539	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.720000	0.420000	1.000000	1.000000	0.739488	0.720000	0	5.600000e-01	9.200000e-01
CDCA2	157313	broad.mit.edu	37	8	25337590	25337590	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25337590C>T	ENST00000330560.3	+	8	1459	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	p.R328C(1)		35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)			CTTTGTACTTCGTTCTGTACT	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000330560.3	1	1	hg19	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692993	0.68271	0.0	1.16E-4	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.63580	-0.05;-0.05	5.32	5.32	0.75619	.	0.082402	0.50627	D	0.000103	T	0.78310	0.4263	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80139	-0.1507	10	0.87932	D	0	-18.3521	14.3712	0.66840	0.0:1.0:0.0:0.0	.	328;313;328	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	C	328;313	ENSP00000328228:R328C;ENSP00000370040:R313C	ENSP00000328228:R328C	R	+	1	0	CDCA2	25393507	1.000000	0.71417	0.997000	0.53966	0.451000	0.32288	3.662000	0.54510	2.773000	0.95371	0.650000	0.86243	CGT		TCGA-IB-7651-01A-11D-2154-08	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	1	0	1	49	200	0	48	1	5.578674e-01	3	6	0	48	2		0	0	0	0	0	2	1	1	47	192	0	46	2								-3.598454	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDCA2	157313	broad.mit.edu	37	8	25364262	25364262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25364262G>A	ENST00000330560.3	+	15	2557	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2			35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)			TATTCCAAAAGCAAAAAATAA	0.338000																								0							SO:0001583	missense			ENST00000330560.3	1	1	hg19	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.46063	0.88;0.88	4.63	3.75	0.43078	.	0.677027	0.14755	N	0.300370	T	0.38931	0.1059	L	0.48642	1.525	0.20975	N	0.999814	P;P	0.46912	0.886;0.886	P;P	0.44673	0.457;0.457	T	0.18429	-1.0337	10	0.49607	T	0.09	-8.0648	8.8171	0.35002	0.1032:0.0:0.8968:0.0	.	679;694	E9PEI0;Q69YH5	.;CDCA2_HUMAN	T	694;679;93	ENSP00000328228:A694T;ENSP00000370040:A679T	ENSP00000328228:A694T	A	+	1	0	CDCA2	25420179	0.128000	0.22383	0.589000	0.28718	0.117000	0.20001	1.297000	0.33400	1.323000	0.45263	0.650000	0.86243	GCA		TCGA-IB-7651-01A-11D-2154-08	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	1	0	1	51	204	0	46	1	7.230214e-01	4	8	0	46	2		0	0	0	0	0	2	1	1	46	204	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R2A	5520	broad.mit.edu	37	8	26151208	26151208	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26151208T>C	ENST00000380737.3	+	2	363	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R	PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha			4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)			TGATATTCAGTGGTGTTTTTC	0.368000																								0							SO:0001583	missense			ENST00000380737.3	1	1	hg19	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326202	0.41197	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.42131	1.0;0.98	5.69	5.69	0.88448	.	0.000000	0.64402	U	0.000001	T	0.71426	0.3338	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.76575	0.988;0.98	T	0.78661	-0.2117	10	0.72032	D	0.01	-13.4676	14.9406	0.70992	0.0:0.0:0.0:1.0	.	22;12	B4E1T7;P63151	.;2ABA_HUMAN	R	12;22	ENSP00000370113:W12R;ENSP00000325074:W22R	ENSP00000325074:W22R	W	+	1	0	PPP2R2A	26207125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.162000	0.67917	0.460000	0.39030	TGG		TCGA-IB-7651-01A-11D-2154-08	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	0	0	1	61	275	0	68	1	1	59	135	0	68	2		0	0	0	0	0	2	1	1	60	269	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP2R2A	5520	broad.mit.edu	37	8	26227791	26227791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26227791G>T	ENST00000380737.3	+	10	1535	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha			4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)			CAAGTGGCAAGCGAAAGAAAG	0.448000																								0							SO:0001583	missense			ENST00000380737.3	1	1	hg19	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978364	0.53720	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.47528	1.46;0.84;1.45	5.25	4.37	0.52481	WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67822	0.2934	M	0.86028	2.79	0.58432	D	0.999999	P;B;D	0.60575	0.885;0.182;0.988	B;B;D	0.65233	0.365;0.032;0.933	T	0.70988	-0.4722	10	0.59425	D	0.04	-20.1387	12.1547	0.54070	0.1307:0.0:0.8693:0.0	.	412;402;403	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	N	402;181;412	ENSP00000370113:K402N;ENSP00000430320:K181N;ENSP00000325074:K412N	ENSP00000325074:K412N	K	+	3	2	PPP2R2A	26283708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.670000	0.37502	2.885000	0.99019	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	1	0	1	12	168	0	37	1	9.998296e-01	29	198	0	37	2		0	0	0	0	0	2	1	9.989679e-01	11	161	0	36	2								-16.516100	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.780000	0.430000	1.000000	1.000000	0.781327	0.780000	0	5.800000e-01	1
BNIP3L	665	broad.mit.edu	37	8	26265551	26265551	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26265551C>T	ENST00000380629.2	+	4	626	c.393C>T	c.(391-393)gtC>gtT	p.V131V	BNIP3L_ENST00000520409.1_Silent_p.V91V|BNIP3L_ENST00000523515.1_Silent_p.V91V|BNIP3L_ENST00000518611.1_Silent_p.V91V|BNIP3L_ENST00000521254.1_3'UTR	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like			4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)			AGAAGGAAGTCGAGGCTTTGA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000380629.2	0	1	hg19	CCDS6050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	0	0	0	7	267	0	69	1	9.996890e-01	37	636	0	69	2		0	0	0	0	0	2	1	9.770717e-01	7	253	0	68	2								-3.552409	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.310000	0.130000	0.570000	0.290000	0.330514	0.310000	0	2.100000e-01	4.400000e-01
PNMA2	10687	broad.mit.edu	37	8	26365196	26365196	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26365196T>G	ENST00000522362.2	-	3	1970	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2			11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)			TCCCTCATGATTCCAGCGGCC	0.478000																								0							SO:0001583	missense			ENST00000522362.2	1	1	hg19	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.238753	0.22711	.	.	ENSG00000240694	ENST00000522362	T	0.08634	3.07	4.32	0.602	0.17535	.	.	.	.	.	T	0.05135	0.0137	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.39396	-0.9616	9	0.62326	D	0.03	-3.4143	2.7839	0.05368	0.218:0.2161:0.0:0.566	.	359	Q9UL42	PNMA2_HUMAN	T	359	ENSP00000429344:N359T	ENSP00000429344:N359T	N	-	2	0	PNMA2	26421113	0.077000	0.21312	0.091000	0.20842	0.009000	0.06853	0.103000	0.15292	0.101000	0.17610	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	1	0	1	132	627	0	148	1	9.999987e-01	24	67	0	148	2		0	0	0	0	0	2	1	1	128	609	0	145	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPYSL2	1808	broad.mit.edu	37	8	26492332	26492332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26492332G>A	ENST00000311151.5	+	8	1139	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	p.A243T(1)		20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)			CATCACCATCGCCAACCAGAC	0.582000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000311151.5	1	1	hg19	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	37	6.222576	0.97390	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.8	5.8	0.92144	Amidohydrolase 1 (1);	0.057489	0.64402	D	0.000001	D	0.95981	0.8691	M	0.90759	3.145	0.80722	D	1	D;P;D	0.63880	0.988;0.878;0.993	P;B;P	0.53912	0.628;0.297;0.737	D	0.95903	0.8917	10	0.56958	D	0.05	-23.4574	20.0537	0.97638	0.0:0.0:1.0:0.0	.	243;243;299	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	T	207;243;243;207	ENSP00000427985:A207T;ENSP00000309539:A243T;ENSP00000428909:A243T;ENSP00000431117:A207T	ENSP00000309539:A243T	A	+	1	0	DPYSL2	26548249	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	1	0	1	94	419	0	110	1	1	67	245	0	110	2		0	0	0	0	0	2	1	1	92	408	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM35	23087	broad.mit.edu	37	8	27145212	27145212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27145212C>T	ENST00000305364.4	-	6	1420	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H		NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35			14		Ovarian(32;2.61e-05)			GTGGCAGTGGCGCTCCGCGTC	0.687000																								0							SO:0001583	missense			ENST00000305364.4	1	1	hg19	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527742	0.44969	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.61392	0.11	5.23	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.338941	0.29572	N	0.011771	T	0.48537	0.1505	L	0.48986	1.54	0.21627	N	0.999612	B	0.06786	0.001	B	0.06405	0.002	T	0.47142	-0.9140	10	0.66056	D	0.02	.	7.9606	0.30068	0.0:0.8115:0.0:0.1885	.	446	Q9UPQ4	TRI35_HUMAN	H	446	ENSP00000301924:R446H	ENSP00000301924:R446H	R	-	2	0	TRIM35	27201129	0.000000	0.05858	0.854000	0.33618	0.525000	0.34531	0.002000	0.13061	0.607000	0.29982	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	1	0	1	16	54	0	14	1	9.970248e-01	10	27	0	14	2		0	0	0	0	0	2	1	9.999650e-01	15	54	0	14	2								-20.000000	1	1	121344	2	26	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999860	0.990000	1	9.900000e-01	1
PTK2B	2185	broad.mit.edu	37	8	27315813	27315813	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27315813C>T	ENST00000397501.1	+	36	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_ENST00000544172.1_Silent_p.I939I|PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta			47		Ovarian(32;2.72e-05)		Leflunomide(DB01097)	TCCTACAGATCGAGGGCACCC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000397501.1	1	1	hg19	CCDS6057.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	1	0	1	20	100	0	42	1	1	33	165	0	42	2		0	0	0	0	0	2	1	9.999975e-01	20	100	0	42	2								-20.000000	1	1	121412	5	33	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999631	0.990000	1	9.900000e-01	1
CHRNA2	1135	broad.mit.edu	37	8	27320801	27320801	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27320801C>T	ENST00000520933.2	-	5	1312	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M|CHRNA2_ENST00000407991.1_Missense_Mutation_p.V387M			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)			23		Ovarian(32;2.61e-05)		Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CAGAGCTCCACGGGTGGTGGG	0.682000																								0							SO:0001583	missense			ENST00000520933.2	1	1	hg19	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516690	0.27123	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	D;D;D	0.85339	-1.97;-1.97;-1.97	5.03	-4.23	0.03789	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.830630	0.02479	N	0.088260	T	0.70237	0.3201	N	0.14661	0.345	0.09310	N	1	B;B	0.21309	0.054;0.006	B;B	0.23419	0.046;0.017	T	0.55774	-0.8088	10	0.39692	T	0.17	.	2.1659	0.03837	0.2773:0.3281:0.2811:0.1135	.	372;387	B4DK19;Q15822	.;ACHA2_HUMAN	M	387;387;372	ENSP00000385026:V387M;ENSP00000429616:V387M;ENSP00000240132:V372M	ENSP00000240132:V372M	V	-	1	0	CHRNA2	27376718	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	-2.291000	0.01147	-1.026000	0.03330	-0.363000	0.07495	GTG		TCGA-IB-7651-01A-11D-2154-08	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4	1	0	1	64	257	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	64	250	0	55	2								-3.629594	1	1	121392	5	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHRNA2	1135	broad.mit.edu	37	8	27327295	27327295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27327295C>T	ENST00000520933.2	-	2	430	c.277G>A	c.(277-279)Gct>Act	p.A93T	CHRNA2_ENST00000240132.2_Intron|CHRNA2_ENST00000407991.1_Missense_Mutation_p.A93T			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)			23		Ovarian(32;2.61e-05)		Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	ATGAGCTGAGCGATGGACAGT	0.632000																								0							SO:0001583	missense			ENST00000520933.2	1	1	hg19	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283043	0.80803	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000524096	T;T;T	0.78481	-1.18;-1.18;-1.18	4.77	4.77	0.60923	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101921	0.64402	D	0.000002	T	0.65585	0.2705	N	0.17723	0.515	0.58432	D	0.999999	P	0.47034	0.889	B	0.40782	0.34	T	0.68606	-0.5364	10	0.39692	T	0.17	.	15.6641	0.77213	0.0:1.0:0.0:0.0	.	93	Q15822	ACHA2_HUMAN	T	93	ENSP00000385026:A93T;ENSP00000429616:A93T;ENSP00000430422:A93T	ENSP00000385026:A93T	A	-	1	0	CHRNA2	27383212	0.992000	0.36948	0.914000	0.36105	0.807000	0.45602	3.017000	0.49615	2.653000	0.90120	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4	1	0	1	115	611	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1	114	605	0	131	2								-3.076731	1	1	121412	1	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLU	1191	broad.mit.edu	37	8	27462673	27462673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27462673C>T	ENST00000316403.10	-	5	1002	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000405140.3_Silent_p.E199E|CLU_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000560366.1_Silent_p.E251E			P10909	CLUS_HUMAN	clusterin			21		Ovarian(32;2.61e-05)			TATCCTGGGGCTCCCGGGTGA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000316403.10	1	1	hg19	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.114995	0.06881	.	.	ENSG00000120885	ENST00000522098	.	.	.	4.96	3.02	0.34903	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19516	-1.0303	4	.	.	.	-11.4326	7.7861	0.29093	0.0:0.7189:0.1797:0.1015	.	.	.	.	T	62	.	.	A	-	1	0	CLU	27518590	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.089000	0.15002	1.079000	0.41038	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	1	0	0	27	272	0	53	1	1	762	3457	0	53	2		0	0	0	0	0	2	1	1	27	265	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.710000	1.000000	1.000000	0.952673	0.990000	1	8.600000e-01	1
SCARA3	51435	broad.mit.edu	37	8	27514340	27514340	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27514340A>G	ENST00000301904.3	+	4	288	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3			9		Ovarian(32;2.61e-05)			CATCTCCTTGACCCAGTCTAT	0.468000																								0							SO:0001583	missense			ENST00000301904.3	1	1	hg19	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	A	6.616	0.482141	0.12581	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.90444	2.63;-2.67	5.81	2.65	0.31530	.	0.369337	0.26119	N	0.026238	T	0.78534	0.4298	N	0.24115	0.695	0.22424	N	0.999119	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59500	-0.7443	10	0.17369	T	0.5	-11.845	2.8434	0.05536	0.3555:0.0:0.4459:0.1986	.	90;90	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	A	90	ENSP00000337985:T90A;ENSP00000301904:T90A	ENSP00000301904:T90A	T	+	1	0	SCARA3	27570259	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	1.245000	0.32790	0.788000	0.33755	-0.242000	0.12053	ACC		TCGA-IB-7651-01A-11D-2154-08	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	1	0	1	86	442	0	80	1	9.999923e-01	12	76	0	80	2		0	0	0	0	0	2	1	1	85	435	0	80	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC25	55246	broad.mit.edu	37	8	27605688	27605688	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605688G>A	ENST00000356537.4	-	7	550	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C|CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25			7		Ovarian(32;0.000953)			CTCTCTTCACGATCTCTGCAT	0.403000																								0							SO:0001583	missense			ENST00000356537.4	1	1	hg19	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481698	0.44147	.	.	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.37	5.37	0.77165	.	0.205907	0.40469	N	0.001099	T	0.59514	0.2199	L	0.52823	1.66	0.53688	D	0.999978	B	0.14012	0.009	B	0.06405	0.002	T	0.56655	-0.7943	9	0.48119	T	0.1	-0.3323	16.5983	0.84802	0.0:0.0:1.0:0.0	.	153	Q86WR0	CCD25_HUMAN	C	153;85;85	.	ENSP00000348933:R153C	R	-	1	0	CCDC25	27661607	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	3.308000	0.51896	2.523000	0.85059	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	1	0	1	82	432	0	76	1	1	63	172	0	76	2		0	0	0	0	0	2	1	1	79	424	0	76	2								-3.147276	1	0	121410	10	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCDC25	55246	broad.mit.edu	37	8	27605727	27605727	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605727G>A	ENST00000356537.4	-	7	511	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W|CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25			7		Ovarian(32;0.000953)			TCTGGGAACCGCTCGACTTTG	0.393000																								0							SO:0001583	missense			ENST00000356537.4	1	1	hg19	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375397	0.82682	0.0	1.16E-4	ENSG00000147419	ENST00000356537;ENST00000539095;ENST00000522915	.	.	.	5.61	3.72	0.42706	.	0.061313	0.64402	D	0.000002	T	0.79293	0.4421	M	0.86651	2.83	0.46981	D	0.999275	D	0.89917	1.0	D	0.65987	0.94	T	0.81684	-0.0821	9	0.87932	D	0	-6.8299	12.373	0.55265	0.0:0.0:0.6832:0.3168	.	140	Q86WR0	CCD25_HUMAN	W	140;72;72	.	ENSP00000348933:R140W	R	-	1	2	CCDC25	27661646	0.993000	0.37304	0.988000	0.46212	0.964000	0.63967	3.511000	0.53400	0.644000	0.30656	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	1	0	0	19	453	0	59	1	9.983481e-01	13	232	0	59	2		0	0	0	0	0	2	1	9.999895e-01	18	446	0	59	2								-3.268795	1	0	121410	1	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.470000	0.290000	0.690000	0.460000	0.485048	0.470000	0	3.700000e-01	5.900000e-01
ESCO2	157570	broad.mit.edu	37	8	27634227	27634227	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27634227G>A	ENST00000305188.8	+	3	640	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2			18		Ovarian(32;0.000953)			TCTGCTCCAAGAAGAACAACA	0.338000									SC Phocomelia syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	ENST00000305188.8	1	1	hg19	CCDS34872.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	1	0	1	50	186	0	53	1	8.552186e-01	6	9	0	53	2		0	0	0	0	0	2	1	1	49	183	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCARA5	286133	broad.mit.edu	37	8	27737093	27737093	+	Silent	SNP	G	G	A	rs143382394	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27737093G>A	ENST00000354914.3	-	8	1829	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SCARA5_ENST00000380385.2_Silent_p.F223F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5			18		Ovarian(32;0.0218)			TACCTTGCCCGAATCGAGCTG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000354914.3	1	1	hg19	CCDS6064.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	1	0	0	29	582	0	116	0	0	0	1	0	116	2		0	0	0	0	0	2	1	1	29	571	0	114	2								-2.920853	1	1	121412	11	46	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.550000	0.370000	0.760000	0.550000	0.564024	0.550000	0	4.500000e-01	6.600000e-01
ELP3	55140	broad.mit.edu	37	8	27987089	27987089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27987089C>T	ENST00000256398.8	+	8	1065	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*|ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3			10		Ovarian(32;0.0218)			CTGCATGAAGCGACATTTAAG	0.418000																								0							SO:0001587	stop_gained			ENST00000256398.8	0	1	hg19	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072355	0.93950	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	.	.	.	4.53	2.53	0.30540	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.7133	11.0472	0.47865	0.3306:0.6694:0.0:0.0	.	.	.	.	X	216;230;101;158;111;138	.	ENSP00000256398:R230X	R	+	1	2	ELP3	28043008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.607000	0.36836	1.213000	0.43380	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	1	0	1	135	503	0	102	1	9.999999e-01	3	83	0	102	2		0	0	0	0	0	2	1	1	127	492	0	102	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELP3	55140	broad.mit.edu	37	8	27989836	27989836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27989836C>T	ENST00000256398.8	+	9	1198	c.821C>T	c.(820-822)gCc>gTc	p.A274V	ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000521015.1_Missense_Mutation_p.A260V|ELP3_ENST00000524103.1_Missense_Mutation_p.A202V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000380353.4_Missense_Mutation_p.A182V	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3			10		Ovarian(32;0.0218)			TTTCACCTGGCCAAAGATTCC	0.443000																								0							SO:0001583	missense			ENST00000256398.8	0	1	hg19	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114248	0.77210	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.26	5.26	0.73747	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.110234	0.64402	D	0.000009	D	0.83092	0.5179	M	0.80847	2.515	0.80722	D	1	B;B	0.22003	0.063;0.028	B;B	0.28709	0.063;0.093	T	0.81583	-0.0866	10	0.56958	D	0.05	-13.6737	16.7288	0.85430	0.0:1.0:0.0:0.0	.	155;274	B4DE19;Q9H9T3	.;ELP3_HUMAN	V	260;274;145;202;155;182	ENSP00000428449:A260V;ENSP00000256398:A274V;ENSP00000439242:A145V;ENSP00000429180:A202V;ENSP00000445558:A155V;ENSP00000369711:A182V	ENSP00000256398:A274V	A	+	2	0	ELP3	28045755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.566000	0.82347	2.598000	0.87819	0.557000	0.71058	GCC		TCGA-IB-7651-01A-11D-2154-08	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	0	0	0	6	202	0	43	1	6.452061e-01	3	68	0	43	2		0	0	0	0	0	2	1	9.640445e-01	6	199	0	43	2								-3.434631	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.350000	0.140000	0.670000	0.330000	0.377724	0.350000	0	2.300000e-01	5.100000e-01
CSMD1	64478	broad.mit.edu	37	8	2800060	2800060	+	Missense_Mutation	SNP	G	G	A	rs78595521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2800060G>A	ENST00000520002.1	-	70	11027	c.10472C>T	c.(10471-10473)gCt>gTt	p.A3491V	CSMD1_ENST00000542608.1_Missense_Mutation_p.A3313V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3491V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3490V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3314V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A3314V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			CAGAATGGCAGCCGCCACAGA	0.408000																								0							SO:0001583	missense			ENST00000520002.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	11.44	1.640034	0.29157	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.28454	1.61;1.76;1.78;1.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.61218	1.895	0.80722	D	1	D;P;D	0.69078	0.966;0.533;0.997	B;B;D	0.68483	0.284;0.263;0.958	T	0.32375	-0.9909	10	0.17369	T	0.5	.	19.7363	0.96205	0.0:0.0:1.0:0.0	.	3491;3491;3313	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	V	3314;3491;3352;3490;3313	ENSP00000383047:A3314V;ENSP00000430733:A3491V;ENSP00000441462:A3490V;ENSP00000446243:A3313V	ENSP00000320445:A3352V	A	-	2	0	CSMD1	2787467	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	5.548000	0.67255	2.657000	0.90304	0.637000	0.83480	GCT		TCGA-IB-7651-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	0	1	19	60	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999960e-01	19	59	0	17	2								-3.168524	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
CSMD1	64478	broad.mit.edu	37	8	2818703	2818703	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2818703G>A	ENST00000520002.1	-	63	10220	c.9665C>T	c.(9664-9666)aCg>aTg	p.T3222M	CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3222M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	p.T2950K(1)|p.T3221K(1)		25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			AAAGTGTGGCGTACCAGGGTC	0.348000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000520002.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.11	2.737291	0.49045	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	L	0.55103	1.725	0.80722	D	1	D;P;D	0.69078	0.997;0.52;0.995	D;B;D	0.66497	0.91;0.223;0.944	T	0.74131	-0.3764	10	0.48119	T	0.1	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	3222;3222;3044	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	M	3045;3222;3083;3221;3044	ENSP00000383047:T3045M;ENSP00000430733:T3222M;ENSP00000441462:T3221M;ENSP00000446243:T3044M	ENSP00000320445:T3083M	T	-	2	0	CSMD1	2806110	1.000000	0.71417	0.104000	0.21259	0.343000	0.28985	5.299000	0.65716	2.755000	0.94549	0.650000	0.86243	ACG		TCGA-IB-7651-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1	24	110	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999998e-01	24	107	0	29	2								-3.204592	1	1	120818	21	41	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
ZNF395	55893	broad.mit.edu	37	8	28217156	28217156	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28217156C>A	ENST00000344423.5	-	3	557	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395			24		Ovarian(32;2.06e-05)			AGGCCAGGGCCTGGGCTCCGG	0.617000																								0							SO:0001583	missense			ENST00000344423.5	1	1	hg19	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460047	0.43736	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.4	3.45	0.39498	.	0.582668	0.16352	N	0.218191	T	0.77287	0.4108	L	0.43152	1.355	0.09310	N	0.99999	D	0.54964	0.969	P	0.47162	0.54	T	0.66504	-0.5907	10	0.30078	T	0.28	-14.5634	7.2882	0.26352	0.2026:0.6261:0.1713:0.0	.	142	Q9H8N7	ZN395_HUMAN	H	142	ENSP00000340494:Q142H;ENSP00000429640:Q142H;ENSP00000428452:Q142H;ENSP00000427934:Q142H	ENSP00000340494:Q142H	Q	-	3	2	ZNF395	28273075	0.020000	0.18652	0.622000	0.29159	0.657000	0.38888	0.781000	0.26774	2.537000	0.85549	0.555000	0.69702	CAG		TCGA-IB-7651-01A-11D-2154-08	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1	1	0	1	138	498	0	87	1	9.998954e-01	11	39	0	87	2		0	0	0	0	0	2	1	1	134	487	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD1	64478	broad.mit.edu	37	8	2832035	2832035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2832035C>T	ENST00000520002.1	-	57	9236	c.8681G>A	c.(8680-8682)gGc>gAc	p.G2894D	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2894D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			CGTGTCGTTGCCTATGAGGCT	0.597000																								0							SO:0001583	missense			ENST00000520002.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.10	3.302160	0.60195	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.66	4.79	0.61399	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	D	0.92904	0.6342	10	0.72032	D	0.01	.	14.7098	0.69222	0.0:0.9304:0.0:0.0696	.	2894;2894;2835	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	D	2836;2894;2755;2893;2835	ENSP00000383047:G2836D;ENSP00000430733:G2894D;ENSP00000441462:G2893D;ENSP00000446243:G2835D	ENSP00000320445:G2755D	G	-	2	0	CSMD1	2819442	1.000000	0.71417	0.138000	0.22173	0.003000	0.03518	7.642000	0.83385	1.387000	0.46486	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1	22	119	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.999989e-01	22	113	0	32	2								-20.000000	1	1	120914	1	18	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999763	0.990000	1	9.900000e-01	1
FZD3	7976	broad.mit.edu	37	8	28385002	28385002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385002C>T	ENST00000240093.3	+	5	1203	c.725C>T	c.(724-726)gCa>gTa	p.A242V	FZD3_ENST00000537916.1_Missense_Mutation_p.A242V|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3			41		Ovarian(32;2.06e-05)			ATATTTTATGCAGTCTGCTAC	0.368000																								0							SO:0001583	missense			ENST00000240093.3	1	1	hg19	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480194	0.84747	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.82893	-1.66;-1.66	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.90885	0.7136	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91908	0.5537	10	0.87932	D	0	.	17.8224	0.88654	0.0:1.0:0.0:0.0	.	242	Q9NPG1	FZD3_HUMAN	V	242	ENSP00000437489:A242V;ENSP00000240093:A242V	ENSP00000240093:A242V	A	+	2	0	FZD3	28440921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.438000	0.82558	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	1	0	1	94	494	0	101	1	9.234425e-01	8	17	0	101	2		0	0	0	0	0	2	1	1	94	486	0	100	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FZD3	7976	broad.mit.edu	37	8	28385340	28385340	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385340G>A	ENST00000240093.3	+	5	1541	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	FZD3_ENST00000537916.1_Missense_Mutation_p.D355N|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3			41		Ovarian(32;2.06e-05)			AATTGAAGGTGACAATATTAG	0.443000																								0							SO:0001583	missense			ENST00000240093.3	1	1	hg19	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558480	0.86231	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.85702	-2.02;-2.02	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92821	0.7717	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93866	0.7158	10	0.87932	D	0	.	17.0794	0.86594	0.0:0.0:1.0:0.0	.	355	Q9NPG1	FZD3_HUMAN	N	355	ENSP00000437489:D355N;ENSP00000240093:D355N	ENSP00000240093:D355N	D	+	1	0	FZD3	28441259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.371000	0.80710	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	1	0	1	93	365	0	98	0	2.720511e-01	0	5	0	98	2		0	0	0	0	0	2	1	1	88	354	0	97	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXTL3	2137	broad.mit.edu	37	8	28573951	28573951	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28573951G>T	ENST00000220562.4	+	3	1277	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3			36		Ovarian(32;0.069)			AGAACGCCAAGCAGGACCTGC	0.567000																								0							SO:0001583	missense			ENST00000220562.4	1	1	hg19	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699654	0.48307	.	.	ENSG00000012232	ENST00000220562	D	0.95482	-3.72	5.05	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	L	0.36672	1.1	0.54753	D	0.999988	D	0.54047	0.964	P	0.46940	0.532	D	0.91931	0.5555	9	.	.	.	-27.5715	14.3478	0.66678	0.0844:0.0:0.9156:0.0	.	125	O43909	EXTL3_HUMAN	N	125	ENSP00000220562:K125N	.	K	+	3	2	EXTL3	28629870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.567000	0.60850	2.352000	0.79861	0.491000	0.48974	AAG		TCGA-IB-7651-01A-11D-2154-08	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1	29	161	0	24	1	9.999507e-01	25	65	0	24	2		0	0	0	0	0	2	1	1	29	153	0	24	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999873	0.990000	1	9.900000e-01	1
EXTL3	2137	broad.mit.edu	37	8	28574109	28574109	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574109G>A	ENST00000220562.4	+	3	1435	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3			36		Ovarian(32;0.069)			CGGGGCTGCCGGCTACACAAC	0.597000																								0							SO:0001583	missense			ENST00000220562.4	1	1	hg19	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546182	0.45383	.	.	ENSG00000012232	ENST00000220562	D	0.95788	-3.81	5.02	5.02	0.67125	.	0.054165	0.64402	D	0.000001	D	0.91307	0.7259	L	0.27053	0.805	0.58432	D	0.999997	B	0.19200	0.034	B	0.08055	0.003	D	0.87603	0.2498	9	.	.	.	-24.3996	18.403	0.90523	0.0:0.0:1.0:0.0	.	178	O43909	EXTL3_HUMAN	Q	178	ENSP00000220562:R178Q	.	R	+	2	0	EXTL3	28630028	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.624000	0.98398	2.348000	0.79779	0.485000	0.47835	CGG		TCGA-IB-7651-01A-11D-2154-08	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1	88	413	0	84	1	9.999805e-01	16	59	0	84	2		0	0	0	0	0	2	1	1	87	407	0	84	2								-3.183945	1	0	121412	1	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXTL3	2137	broad.mit.edu	37	8	28574117	28574117	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574117A>G	ENST00000220562.4	+	3	1443	c.541A>G	c.(541-543)Aac>Gac	p.N181D	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3			36		Ovarian(32;0.069)			CCGGCTACACAACTGCTTTGA	0.597000																								0							SO:0001583	missense			ENST00000220562.4	1	1	hg19	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484444	0.26598	.	.	ENSG00000012232	ENST00000220562	D	0.95238	-3.65	5.02	3.87	0.44632	.	0.157871	0.56097	D	0.000027	D	0.89663	0.6780	L	0.39898	1.24	0.38076	D	0.936535	B	0.14012	0.009	B	0.12156	0.007	D	0.85933	0.1453	9	.	.	.	-21.2576	10.1276	0.42658	0.9215:0.0:0.0785:0.0	.	181	O43909	EXTL3_HUMAN	D	181	ENSP00000220562:N181D	.	N	+	1	0	EXTL3	28630036	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.526000	0.53509	1.903000	0.55091	0.397000	0.26171	AAC		TCGA-IB-7651-01A-11D-2154-08	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1	52	437	0	88	1	9.978253e-01	2	77	0	88	2		0	0	0	0	0	2	1	1	51	431	0	88	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.930000	1.000000	1.000000	0.996503	0.990000	1	9.900000e-01	1
EXTL3	2137	broad.mit.edu	37	8	28575113	28575113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575113C>T	ENST00000220562.4	+	3	2439	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3			36		Ovarian(32;0.069)			GCGGCAAGGCCGCTTTCTCTG	0.562000																								0							SO:0001583	missense			ENST00000220562.4	1	1	hg19	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138105	0.77775	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.96300	-3.53;-3.97	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98383	1.0559	10	0.66056	D	0.02	-23.0606	20.0522	0.97631	0.0:1.0:0.0:0.0	.	513	O43909	EXTL3_HUMAN	C	129;513	ENSP00000428691:R129C;ENSP00000220562:R513C	ENSP00000220562:R513C	R	+	1	0	EXTL3	28631032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.737000	0.93849	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1	84	345	0	75	1	9.999537e-01	17	44	0	75	2		0	0	0	0	0	2	1	1	83	342	0	74	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXTL3	2137	broad.mit.edu	37	8	28575713	28575713	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575713G>A	ENST00000220562.4	+	3	3039	c.2137G>A	c.(2137-2139)Gtc>Atc	p.V713I	EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3			36		Ovarian(32;0.069)			TGACATTGGCGTCCCCATCAT	0.463000																								0							SO:0001583	missense			ENST00000220562.4	1	1	hg19	CCDS6070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.449679|2.449679	0.43531|0.43531	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000521473|ENST00000523149;ENST00000220562	.|D;D	.|0.86694	.|-2.16;-2.16	5.91|5.91	5.91|5.91	0.95273|0.95273	.|EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	.|0.065273	.|0.64402	.|D	.|0.000008	D|D	0.86797|0.86797	0.6019|0.6019	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.53312	.|0.959	.|P	.|0.44696	.|0.458	D|D	0.85714|0.85714	0.1321|0.1321	5|10	.|0.38643	.|T	.|0.18	-40.094|-40.094	20.2946|20.2946	0.98546|0.98546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|713	.|O43909	.|EXTL3_HUMAN	H|I	46|329;713	.|ENSP00000428691:V329I;ENSP00000220562:V713I	.|ENSP00000220562:V713I	R|V	+|+	2|1	0|0	EXTL3|EXTL3	28631632|28631632	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	6.074000|6.074000	0.71253|0.71253	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1	83	317	0	62	1	1	19	79	0	62	2		0	0	0	0	0	2	1	1	82	314	0	61	2								-20.000000	1	1	121412	1	29	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD1	64478	broad.mit.edu	37	8	2886927	2886927	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2886927G>T	ENST00000520002.1	-	52	8327	c.7772C>A	c.(7771-7773)cCt>cAt	p.P2591H	CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			GTAGTAACCAGGACTGCAGCT	0.537000																								0							SO:0001583	missense			ENST00000520002.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.1	4.241112	0.79912	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.88	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (3);	0.279436	0.29737	N	0.011325	D	0.83229	0.5209	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.973	D;D;P	0.74348	0.964;0.983;0.891	D	0.85819	0.1384	10	0.72032	D	0.01	.	18.2377	0.89956	0.0:0.0:1.0:0.0	.	2591;2591;2590	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2591;2591;2452;2590;2590	ENSP00000383047:P2591H;ENSP00000430733:P2591H;ENSP00000441462:P2590H;ENSP00000446243:P2590H	ENSP00000320445:P2452H	P	-	2	0	CSMD1	2874334	1.000000	0.71417	0.133000	0.22050	0.944000	0.59088	8.285000	0.89914	2.552000	0.86080	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1	21	78	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999985e-01	21	74	0	16	2								-3.779759	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
KIF13B	23303	broad.mit.edu	37	8	28976427	28976427	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28976427C>A	ENST00000524189.1	-	30	3656	c.3618G>T	c.(3616-3618)gaG>gaT	p.E1206D	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B			28		Ovarian(32;0.000536)			CAAAGAACTCCTCTTCTTCTT	0.458000																								0							SO:0001583	missense			ENST00000524189.1	1	1	hg19	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	2.070	-0.413266	0.04799	.	.	ENSG00000197892	ENST00000524189	T	0.75704	-0.96	4.89	-6.99	0.01605	.	0.258306	0.44097	N	0.000483	T	0.35128	0.0921	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28713	-1.0035	10	0.09843	T	0.71	.	2.2038	0.03931	0.3404:0.2516:0.3025:0.1054	.	1206	F8VPJ2	.	D	1206	ENSP00000427900:E1206D	ENSP00000427900:E1206D	E	-	3	2	KIF13B	29032346	0.001000	0.12720	0.900000	0.35374	0.902000	0.53008	-1.583000	0.02115	-1.236000	0.02542	-0.471000	0.05019	GAG		TCGA-IB-7651-01A-11D-2154-08	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1	0	0	1	74	475	0	123	1	9.999998e-01	54	87	0	123	2		0	0	0	0	0	2	1	1	73	457	0	122	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
KIF13B	23303	broad.mit.edu	37	8	28980978	28980978	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28980978C>T	ENST00000524189.1	-	28	3422	c.3384G>A	c.(3382-3384)gcG>gcA	p.A1128A	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B			28		Ovarian(32;0.000536)			CCAGAAGCTGCGCTTCACGGT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000524189.1	0	1	hg19	CCDS55217.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1	0	0	0	12	707	0	121	1	7.622192e-01	4	159	0	121	2		0	0	0	0	0	2	1	9.990243e-01	12	696	0	119	2								-2.315569	0	0	120870	37	50	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.190000	0.100000	0.320000	0.190000	0.208072	0.190000	0	1.400000e-01	2.600000e-01
KIF13B	23303	broad.mit.edu	37	8	29004938	29004938	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29004938C>A	ENST00000524189.1	-	17	2033	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B			28		Ovarian(32;0.000536)			TTAAGCGTTGCTGAGCGCTGG	0.552000																								0							SO:0001583	missense			ENST00000524189.1	0	1	hg19	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391408	0.25118	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.72051	-0.62;-0.62	5.51	2.53	0.30540	.	0.055724	0.64402	D	0.000001	T	0.57257	0.2041	L	0.34521	1.04	0.80722	D	1	B;B	0.24092	0.097;0.045	B;B	0.23852	0.017;0.049	T	0.49995	-0.8879	10	0.49607	T	0.09	.	9.5339	0.39211	0.0:0.6796:0.0:0.3204	.	665;665	Q9NQT8;F8VPJ2	KI13B_HUMAN;.	H	665	ENSP00000427900:Q665H;ENSP00000429201:Q665H	ENSP00000429201:Q665H	Q	-	3	2	KIF13B	29060857	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	1.240000	0.32731	0.214000	0.20742	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1	1	0	1	18	66	0	10	1	1	73	73	0	10	2		0	0	0	0	0	2	1	9.999899e-01	18	64	0	10	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999902	0.990000	1	9.900000e-01	1
KIF13B	23303	broad.mit.edu	37	8	29033584	29033584	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29033584C>T	ENST00000524189.1	-	10	984		c.e10+1		KIF13B_ENST00000521515.1_Splice_Site	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B			28		Ovarian(32;0.000536)			AACAAACTTACTTTGAGCAGC	0.413000																								0							SO:0001630	splice_region_variant			ENST00000524189.1	0	1	hg19	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858644	0.91433	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF13B	29089503	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.588000	0.82629	2.763000	0.94921	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1	1	0	0	6	90	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	9.654545e-01	6	89	0	19	2								-10.617240	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.740000	0.320000	1.000000	1.000000	0.743172	0.740000	0	5.000000e-01	1
TMEM66	0	broad.mit.edu	37	8	29923589	29923589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29923589C>A	ENST00000256255.6	-	5	1166	c.909G>T	c.(907-909)tgG>tgT	p.W303C	TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C|TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN				14					AAGCCCTATTCCACGTGCCAG	0.483000																								0							SO:0001583	missense			ENST00000256255.6	1	1	hg19	CCDS6074.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.95|13.95|13.95	2.389019|2.389019|2.389019	0.42308|0.42308|0.42308	.|.|.	.|.|.	ENSG00000133872|ENSG00000133872|ENSG00000133872	ENST00000518296|ENST00000521265|ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273	.|.|T;T;T	.|.|0.51574	.|.|0.7;0.7;0.7	5.78|5.78|5.78	4.9|4.9|4.9	0.64082|0.64082|0.64082	.|.|.	.|.|0.366629	.|.|0.29799	.|.|N	.|.|0.011163	.|T|T	.|0.68879|0.68879	.|0.3049|0.3049	M|M|M	0.85859|0.85859|0.85859	2.78|2.78|2.78	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|D;D	.|.|0.76494	.|.|0.999;0.998	.|.|D;D	.|.|0.69824	.|.|0.966;0.947	.|T|T	.|0.72763|0.72763	.|-0.4195|-0.4195	.|5|10	.|.|0.59425	.|.|D	.|.|0.04	-19.4179|-19.4179|-19.4179	10.793|10.793|10.793	0.46445|0.46445|0.46445	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.|.	.|.|303;303	.|.|B3KQQ4;Q96BY9	.|.|.;TMM66_HUMAN	X|V|C	173|303|303;131;267;131	.|.|ENSP00000256255:W303C;ENSP00000441351:W131C;ENSP00000441723:W131C	.|.|ENSP00000256255:W303C	E|G|W	-|-|-	1|2|3	0|0|0	TMEM66|TMEM66|TMEM66	30043131|30043131|30043131	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.864000|0.864000|0.864000	0.33941|0.33941|0.33941	0.009000|0.009000|0.009000	0.06853|0.06853|0.06853	2.362000|2.362000|2.362000	0.44169|0.44169|0.44169	1.441000|1.441000|1.441000	0.47550|0.47550|0.47550	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		TCGA-IB-7651-01A-11D-2154-08	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4	1	0	1	46	372	0	89	1	1	163	1803	0	89	2		0	0	0	0	0	2	1	1	45	364	0	85	2								-16.853540	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.950000	1.000000	1.000000	0.997280	0.990000	1	9.900000e-01	1
UBXN8	7993	broad.mit.edu	37	8	30623764	30623764	+	RNA	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30623764A>G	ENST00000519246.1	+	0	865							O00124	UBXN8_HUMAN	UBX domain protein 8			3					CTGGATGACGAGAATTGGGTA	0.438000													Colon(169;855 1943 17895 39459 47884)											0											ENST00000519246.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	0	0	0	36	210	0	42	1	9.988319e-01	15	48	0	42	2		0	0	0	0	0	2	1	1	36	207	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999935	0.990000	1	9.900000e-01	1
PPP2CB	5516	broad.mit.edu	37	8	30655229	30655229	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30655229G>A	ENST00000221138.4	-	3	804	c.354C>T	c.(352-354)caC>caT	p.H118H	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'Flank	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	p.H118H(1)		9				Vitamin E(DB00163)	GTCGGCTTTCGTGATTTCCTC	0.363000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000221138.4	1	1	hg19	CCDS6079.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	1	0	1	38	206	0	57	1	1	151	554	0	57	2		0	0	0	0	0	2	1	1	37	201	0	57	2								-19.635740	1	1	121410	3	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
TEX15	56154	broad.mit.edu	37	8	30690823	30690823	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30690823T>G	ENST00000256246.2	-	4	8423	c.8349A>C	c.(8347-8349)gaA>gaC	p.E2783D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15			138					GATGAAAGGATTCTTGGTGCC	0.289000																								0							SO:0001583	missense			ENST00000256246.2	1	1	hg19	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	4.139	0.024091	0.08006	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	5.72	3.28	0.37604	.	1.270990	0.05549	N	0.567080	T	0.07458	0.0188	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.36841	-0.9731	10	0.87932	D	0	.	4.9207	0.13869	0.1687:0.0877:0.0:0.7436	.	2783	Q9BXT5	TEX15_HUMAN	D	2783	ENSP00000256246:E2783D	ENSP00000256246:E2783D	E	-	3	2	TEX15	30810365	0.015000	0.18098	0.063000	0.19743	0.108000	0.19459	1.003000	0.29809	0.495000	0.27882	0.528000	0.53228	GAA		TCGA-IB-7651-01A-11D-2154-08	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1	23	102	0	27	0	0	1	0	0	27	2		0	0	0	0	0	2	1	9.999996e-01	22	100	0	26	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
TEX15	56154	broad.mit.edu	37	8	30695464	30695464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30695464C>A	ENST00000256246.2	-	3	7261	c.7187G>T	c.(7186-7188)gGc>gTc	p.G2396V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15			138					TAAAAGTGAGCCAGGTAGTGA	0.388000																								0							SO:0001583	missense			ENST00000256246.2	1	1	hg19	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396149	0.62177	.	.	ENSG00000133863	ENST00000256246	T	0.12774	2.65	4.4	-3.86	0.04230	.	1.595900	0.03684	N	0.245973	T	0.10937	0.0267	L	0.44542	1.39	0.22858	N	0.998647	B	0.26809	0.16	B	0.25291	0.059	T	0.30446	-0.9978	10	0.87932	D	0	.	1.8012	0.03071	0.1337:0.3029:0.1313:0.4321	.	2396	Q9BXT5	TEX15_HUMAN	V	2396	ENSP00000256246:G2396V	ENSP00000256246:G2396V	G	-	2	0	TEX15	30815006	0.000000	0.05858	0.001000	0.08648	0.533000	0.34776	-1.045000	0.03528	-1.018000	0.03363	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1	215	926	0	202	0	0	0	1	0	202	2		0	0	0	0	0	2	1	1	211	906	0	200	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX15	56154	broad.mit.edu	37	8	30700178	30700178	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30700178G>A	ENST00000256246.2	-	1	6430	c.6356C>T	c.(6355-6357)tCa>tTa	p.S2119L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15			138					AACATCTGTTGAGTTATCTTT	0.368000																								0							SO:0001583	missense			ENST00000256246.2	1	1	hg19	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461201	0.26248	.	.	ENSG00000133863	ENST00000256246	T	0.11604	2.76	5.68	4.78	0.61160	.	0.545093	0.16589	N	0.207875	T	0.11281	0.0275	L	0.54323	1.7	0.09310	N	1	B	0.32365	0.367	B	0.30316	0.114	T	0.23940	-1.0174	10	0.87932	D	0	.	7.0698	0.25171	0.0866:0.0:0.7338:0.1796	.	2119	Q9BXT5	TEX15_HUMAN	L	2119	ENSP00000256246:S2119L	ENSP00000256246:S2119L	S	-	2	0	TEX15	30819720	0.998000	0.40836	0.017000	0.16124	0.967000	0.64934	3.336000	0.52113	1.336000	0.45506	0.591000	0.81541	TCA		TCGA-IB-7651-01A-11D-2154-08	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1	47	221	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	45	215	0	57	2								-3.302120	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX15	56154	broad.mit.edu	37	8	30701930	30701930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30701930G>A	ENST00000256246.2	-	1	4678	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15			138					TTTGTTAAGCGGATTAGAAAC	0.353000																								0							SO:0001583	missense			ENST00000256246.2	1	1	hg19	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	5.831	0.337538	0.11013	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.77	-1.07	0.09968	.	1.103820	0.06875	N	0.801452	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.41858	-0.9485	10	0.87932	D	0	.	1.8159	0.03100	0.123:0.1577:0.349:0.3703	.	1535	Q9BXT5	TEX15_HUMAN	L	1535	ENSP00000256246:P1535L	ENSP00000256246:P1535L	P	-	2	0	TEX15	30821472	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.141000	0.10327	-0.405000	0.07599	-1.085000	0.02201	CCG		TCGA-IB-7651-01A-11D-2154-08	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1	187	894	0	171	0	0	1	0	0	171	2		0	0	0	0	0	2	1	1	185	881	0	169	2								-3.227544	1	1	121406	3	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX15	56154	broad.mit.edu	37	8	30705470	30705470	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30705470C>A	ENST00000256246.2	-	1	1138	c.1064G>T	c.(1063-1065)aGt>aTt	p.S355I	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15			138					AATGGCTAAACTTGTATGAAT	0.378000																								0							SO:0001583	missense			ENST00000256246.2	1	1	hg19	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	7.592	0.670934	0.14776	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.46	-2.5	0.06384	.	0.558840	0.18195	N	0.148712	T	0.11281	0.0275	L	0.27053	0.805	0.09310	N	1	P	0.40794	0.729	P	0.48400	0.576	T	0.18366	-1.0339	10	0.87932	D	0	.	12.1096	0.53831	0.0:0.3605:0.0:0.6395	.	355	Q9BXT5	TEX15_HUMAN	I	355	ENSP00000256246:S355I	ENSP00000256246:S355I	S	-	2	0	TEX15	30825012	0.005000	0.15991	0.005000	0.12908	0.054000	0.15201	-0.517000	0.06275	-0.457000	0.07033	-1.000000	0.02509	AGT		TCGA-IB-7651-01A-11D-2154-08	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	1	0	1	33	163	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	32	161	0	40	2								-4.057285	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
CSMD1	64478	broad.mit.edu	37	8	3087562	3087562	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3087562C>A	ENST00000520002.1	-	28	4903	c.4348G>T	c.(4348-4350)Gct>Tct	p.A1450S	CSMD1_ENST00000542608.1_Splice_Site_p.A1449S|CSMD1_ENST00000602557.1_Splice_Site_p.A1450S|CSMD1_ENST00000537824.1_Splice_Site_p.A1449S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Splice_Site_p.A1450S|CSMD1_ENST00000602723.1_Splice_Site_p.A1450S|CSMD1_ENST00000539096.1_Splice_Site_p.A1449S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	p.A1449S(1)|p.A1178S(1)		25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			TGTCTGATACCTATGCATGTA	0.418000																								2	Substitution - Missense(2)						SO:0001630	splice_region_variant			ENST00000520002.1	1	0	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502771|4.502771	0.85176|0.85176	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.25749|.	1.78;1.78;1.78;1.78;1.78|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.78078|0.78078	0.4227|0.4227	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	D;P;P|.	0.65815|.	0.995;0.735;0.931|.	D;B;P|.	0.73380|.	0.98;0.208;0.872|.	T|T	0.75479|0.75479	-0.3303|-0.3303	9|5	.|.	.|.	.|.	.|.	20.4192|20.4192	0.99033|0.99033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1450;1450;1450|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|I	1450;1450;1312;1449;1449;1449|929	ENSP00000383047:A1450S;ENSP00000430733:A1450S;ENSP00000441462:A1449S;ENSP00000446243:A1449S;ENSP00000441675:A1449S|.	.|.	A|S	-|-	1|2	0|0	CSMD1|CSMD1	3074969|3074969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.294000|0.294000	0.27393|0.27393	7.634000|7.634000	0.83273|0.83273	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1	42	257	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1	42	256	0	48	2								-2.746690	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
CSMD1	64478	broad.mit.edu	37	8	3141743	3141743	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3141743C>A	ENST00000520002.1	-	27	4634	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	CSMD1_ENST00000542608.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			GTTGAAGGTGCTGTGGATGTC	0.577000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000520002.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157117|4.157117	0.78114|0.78114	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.68903	.|-0.36;-0.36;-0.36;-0.36;-0.36	5.12|5.12	5.12|5.12	0.69794|0.69794	.|CUB (5);	.|0.146217	.|0.48767	.|D	.|0.000167	D|D	0.87273|0.87273	0.6136|0.6136	H|H	0.94306|0.94306	3.52|3.52	0.46131|0.46131	D|D	0.998881|0.998881	.|D;D;D	.|0.89917	.|0.999;1.0;0.998	.|D;D;D	.|0.97110	.|0.997;1.0;0.975	D|D	0.90898|0.90898	0.4766|0.4766	5|10	.|0.72032	.|D	.|0.01	.|.	18.573|18.573	0.91144|0.91144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1360;1360;1360	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	H|I	839|1360;1360;1222;1359;1359;1359	.|ENSP00000383047:S1360I;ENSP00000430733:S1360I;ENSP00000441462:S1359I;ENSP00000446243:S1359I;ENSP00000441675:S1359I	.|ENSP00000320445:S1222I	Q|S	-|-	3|2	2|0	CSMD1|CSMD1	3129150|3129150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.850000|4.850000	0.62889|0.62889	2.375000|2.375000	0.81037|0.81037	0.563000|0.563000	0.77884|0.77884	CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	0	0	12	86	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.992754e-01	12	85	0	18	2								-19.674200	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.800000	1.000000	1.000000	0.987476	0.990000	1	9.900000e-01	1
CSMD1	64478	broad.mit.edu	37	8	3216710	3216710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3216710G>A	ENST00000520002.1	-	22	3826	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			CACACACGGCGGCCCCCACCC	0.552000																								0							SO:0001583	missense			ENST00000520002.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.7|22.7	4.320993|4.320993	0.81580|0.81580	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.84683|0.84683	0.5526|0.5526	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.998;1.0;1.0	D|D	0.88420|0.88420	0.3028|0.3028	5|10	.|0.87932	.|D	.|0	.|.	19.067|19.067	0.93116|0.93116	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1091;1091;1091	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	L|C	570|1091;1091;953;1090;1090;1090	.|ENSP00000383047:R1091C;ENSP00000430733:R1091C;ENSP00000441462:R1090C;ENSP00000446243:R1090C;ENSP00000441675:R1090C	.|ENSP00000320445:R953C	P|R	-|-	2|1	0|0	CSMD1|CSMD1	3204117|3204117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.104000|6.104000	0.71498|0.71498	2.489000|2.489000	0.83994|0.83994	0.550000|0.550000	0.68814|0.68814	CCG|CGC		TCGA-IB-7651-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1	87	416	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	81	405	0	83	2								-3.048061	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRG1	3084	broad.mit.edu	37	8	32453476	32453476	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32453476G>A	ENST00000405005.3	+	2	231	c.231G>A	c.(229-231)ttG>ttA	p.L77L	NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000341377.5_Silent_p.L77L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000287842.3_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L|NRG1_ENST00000356819.4_Silent_p.L77L			Q02297	NRG1_HUMAN	neuregulin 1			39		Breast(100;0.203)			GGAATGAATTGAATCGAAAAA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000405005.3	1	1	hg19	CCDS6085.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1	1	0	0	88	412	0	120	0	2.168585e-01	0	5	0	120	2		0	0	0	0	0	2	1	1	83	401	0	119	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSMD1	64478	broad.mit.edu	37	8	3253870	3253870	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3253870C>T	ENST00000520002.1	-	18	2997	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	CSMD1_ENST00000542608.1_Silent_p.E813E|CSMD1_ENST00000602557.1_Silent_p.E814E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000539096.1_Silent_p.E813E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			CATCTCTGACCTCCAAGGTGT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000520002.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.448	-0.895059	0.02491	2.32E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.3	-6.3	0.02007	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63519	-0.6619	4	.	.	.	.	14.2824	0.66221	0.0:0.5879:0.0:0.4121	.	.	.	.	S	294	.	.	G	-	1	0	CSMD1	3241277	0.994000	0.37717	0.083000	0.20561	0.013000	0.08279	0.349000	0.20055	-1.647000	0.01511	-0.136000	0.14681	GGT		TCGA-IB-7651-01A-11D-2154-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1	12	46	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.994606e-01	12	46	0	19	2								-19.999470	1	1	121160	1	31	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999447	0.990000	1	9.900000e-01	1
NRG1	3084	broad.mit.edu	37	8	32621451	32621451	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621451G>T	ENST00000405005.3	+	12	1454	c.1454G>T	c.(1453-1455)aGg>aTg	p.R485M	NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000338921.4_Missense_Mutation_p.R493M|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M			Q02297	NRG1_HUMAN	neuregulin 1			39		Breast(100;0.203)			ACACCACCAAGGCTGCGGGAG	0.577000																								0							SO:0001583	missense			ENST00000405005.3	1	1	hg19	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	4.753	0.139932	0.09083	0.0	1.16E-4	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.88	5.01	0.66863	Neuregulin 1-related, C-terminal (1);	0.240552	0.40818	N	0.001001	T	0.70011	0.3175	L	0.47716	1.5	0.09310	N	0.999999	D;P;P;P;P;P;P	0.53462	0.96;0.81;0.744;0.547;0.699;0.899;0.699	P;P;P;B;P;P;P	0.62298	0.748;0.632;0.797;0.24;0.632;0.9;0.694	T	0.63024	-0.6729	10	0.46703	T	0.11	-17.5206	12.7104	0.57086	0.1356:0.0:0.8644:0.0	.	328;456;490;493;482;485;490	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	M	452;435;558;493;490;485;456;482;485;328	ENSP00000430053:R452M;ENSP00000429582:R435M;ENSP00000429067:R558M;ENSP00000343395:R493M;ENSP00000349275:R490M;ENSP00000287840:R485M;ENSP00000287845:R456M;ENSP00000287842:R482M;ENSP00000384620:R485M;ENSP00000439276:R328M	ENSP00000287840:R485M	R	+	2	0	NRG1	32740993	0.565000	0.26610	0.063000	0.19743	0.024000	0.10985	2.250000	0.43178	1.503000	0.48686	0.557000	0.71058	AGG		TCGA-IB-7651-01A-11D-2154-08	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1	1	0	1	61	297	0	88	0	7.953888e-02	0	3	0	88	2		0	0	0	0	0	2	1	1	59	290	0	86	2								-20.000000	1	0	121410	2	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRG1	3084	broad.mit.edu	37	8	32621526	32621526	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621526A>G	ENST00000405005.3	+	12	1529	c.1529A>G	c.(1528-1530)aAc>aGc	p.N510S	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000338921.4_Missense_Mutation_p.N518S|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000356819.4_Missense_Mutation_p.N515S			Q02297	NRG1_HUMAN	neuregulin 1			39		Breast(100;0.203)			CATGACAGTAACAGCCTCCCT	0.547000																								0							SO:0001583	missense			ENST00000405005.3	1	1	hg19	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	1.875	-0.459402	0.04508	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.75	-2.42	0.06542	Neuregulin 1-related, C-terminal (1);	0.466636	0.25130	N	0.032920	T	0.24547	0.0595	N	0.19112	0.55	0.27175	N	0.960821	B;B;B;B;B;B;B	0.13594	0.002;0.008;0.005;0.0;0.008;0.002;0.004	B;B;B;B;B;B;B	0.23150	0.007;0.009;0.029;0.001;0.017;0.044;0.017	T	0.31833	-0.9929	10	0.08837	T	0.75	-4.7042	9.1717	0.37086	0.4312:0.117:0.4519:0.0	.	353;481;515;518;507;510;515	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	S	477;460;583;518;515;510;481;507;510;353	ENSP00000430053:N477S;ENSP00000429582:N460S;ENSP00000429067:N583S;ENSP00000343395:N518S;ENSP00000349275:N515S;ENSP00000287840:N510S;ENSP00000287845:N481S;ENSP00000287842:N507S;ENSP00000384620:N510S;ENSP00000439276:N353S	ENSP00000287840:N510S	N	+	2	0	NRG1	32741068	1.000000	0.71417	0.525000	0.27900	0.036000	0.12997	0.832000	0.27490	-0.673000	0.05259	-0.475000	0.04921	AAC		TCGA-IB-7651-01A-11D-2154-08	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1	1	0	1	38	247	0	52	0	5.126513e-02	0	3	0	52	2		0	0	0	0	0	2	1	1	37	241	0	52	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999772	0.990000	1	9.900000e-01	1
MAK16	84549	broad.mit.edu	37	8	33356000	33356000	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33356000C>T	ENST00000360128.6	+	10	1213	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)			8					ATGGTAAATCCTCCAGTGAGG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000360128.6	1	1	hg19	CCDS6089.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	1	0	1	56	254	0	83	1	9.999173e-01	25	41	0	83	2		0	0	0	0	0	2	1	1	55	245	0	83	2								-3.023750	1	1	121412	1	31	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF122	79845	broad.mit.edu	37	8	33406322	33406322	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33406322A>G	ENST00000256257.1	-	6	818	c.417T>C	c.(415-417)agT>agC	p.S139S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122			7					CCTCTGAGGGACTAGCAATGG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000256257.1	1	1	hg19	CCDS6091.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	1	0	1	116	572	0	167	1	9.995445e-01	8	49	0	167	2		0	0	0	0	0	2	1	1	115	553	0	167	2								-20.000000	1	1	121412	2	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DUSP26	78986	broad.mit.edu	37	8	33454996	33454996	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33454996A>C	ENST00000256261.4	-	2	555	c.38T>G	c.(37-39)tTt>tGt	p.F13C	DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)			15					GCGGGCCATAAAAGTCATAGA	0.542000																								0							SO:0001583	missense			ENST00000256261.4	1	1	hg19	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204645	0.79127	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.21361	3.82;3.82;2.01	5.5	5.5	0.81552	.	0.360837	0.27744	N	0.018029	T	0.34221	0.0890	L	0.34521	1.04	0.48452	D	0.999657	D	0.76494	0.999	D	0.74674	0.984	T	0.03453	-1.1035	10	0.40728	T	0.16	-20.8967	13.8287	0.63366	1.0:0.0:0.0:0.0	.	13	Q9BV47	DUS26_HUMAN	C	13	ENSP00000256261:F13C;ENSP00000429176:F13C;ENSP00000430922:F13C	ENSP00000256261:F13C	F	-	2	0	DUSP26	33574538	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	8.292000	0.89930	2.094000	0.63399	0.459000	0.35465	TTT		TCGA-IB-7651-01A-11D-2154-08	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	1	0	1	44	196	0	72	0	3.836458e-01	0	7	0	72	2		0	0	0	0	0	2	1	1	44	191	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5D	137970	broad.mit.edu	37	8	35406991	35406991	+	Silent	SNP	C	C	T	rs77010935	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35406991C>T	ENST00000404895.2	+	2	613	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC5D_ENST00000287272.2_Silent_p.N95N|UNC5D_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000416672.1_Silent_p.N95N|UNC5D_ENST00000420357.1_Silent_p.N95N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)			112					TCCATCAGAACGAGCACGTCT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000404895.2	1	1	hg19	CCDS6093.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	1	0	1	18	129	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.999852e-01	18	126	0	33	2								-4.562726	1	1	121402	184	50	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.870000	1.000000	1.000000	0.992615	0.990000	1	9.900000e-01	1
UNC5D	137970	broad.mit.edu	37	8	35425705	35425705	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35425705G>A	ENST00000404895.2	+	3	740	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	UNC5D_ENST00000287272.2_Missense_Mutation_p.A138T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)			112					CCAGTGTGTGGCGTGGAGCCA	0.542000																								0							SO:0001583	missense			ENST00000404895.2	1	1	hg19	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	35	5.432833	0.96150	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.22	5.22	0.72569	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84579	0.0660	10	0.87932	D	0	-14.5974	18.7938	0.91985	0.0:0.0:1.0:0.0	.	133;138	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	T	138;138;138;138;133	ENSP00000385143:A138T;ENSP00000392739:A138T;ENSP00000287272:A138T;ENSP00000412652:A138T;ENSP00000394303:A133T	ENSP00000287272:A138T	A	+	1	0	UNC5D	35545247	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.830000	0.99415	2.443000	0.82685	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	1	0	1	108	553	0	128	0	0	0	1	0	128	2		0	0	0	0	0	2	1	1	107	547	0	127	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC5D	137970	broad.mit.edu	37	8	35583857	35583857	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35583857G>T	ENST00000404895.2	+	10	1819	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D	UNC5D_ENST00000287272.2_Missense_Mutation_p.E428D|UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)			112					GAGTGTCTGAGAGAGCTGAGT	0.473000																								0							SO:0001583	missense			ENST00000404895.2	1	1	hg19	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	3.978	-0.007080	0.07773	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.53423	0.65;1.11;1.14;0.65;0.62;2.6	6.04	0.374	0.16183	.	0.298550	0.41605	N	0.000856	T	0.18509	0.0444	N	0.11789	0.175	0.33498	D	0.589572	B;B;B;B	0.10296	0.003;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.004;0.002	T	0.31806	-0.9930	10	0.02654	T	1	-15.9669	3.5666	0.07903	0.1971:0.2926:0.4098:0.1005	.	73;502;492;497	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	D	497;430;428;502;492;73	ENSP00000385143:E497D;ENSP00000392739:E430D;ENSP00000287272:E428D;ENSP00000412652:E502D;ENSP00000394303:E492D;ENSP00000397211:E73D	ENSP00000287272:E428D	E	+	3	2	UNC5D	35703399	0.011000	0.17503	0.998000	0.56505	0.888000	0.51559	-0.587000	0.05780	0.113000	0.18004	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2	1	0	1	36	243	0	43	0	1.774312e-02	0	2	0	43	2		0	0	0	0	0	2	1	1	36	238	0	43	2								-3.143200	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999507	0.990000	1	9.900000e-01	1
KCNU1	157855	broad.mit.edu	37	8	36644856	36644856	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36644856C>T	ENST00000399881.3	+	2	265	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1			57					TCGCTAGGAGCCATGTAAGAA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000399881.3	0	1	hg19	CCDS55220.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	0	0	0	4	84	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	8.865372e-01	3	83	0	25	2								-7.549057	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.560000	0.190000	1.000000	1.000000	0.594056	0.560000	0	3.400000e-01	8.500000e-01
KCNU1	157855	broad.mit.edu	37	8	36694367	36694367	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36694367C>T	ENST00000399881.3	+	14	1459	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1			57					ACATCATCTGCTTTGCTGAAT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000399881.3	1	1	hg19	CCDS55220.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	1	0	0	47	469	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1	46	464	0	103	2								-14.118470	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.790000	1.000000	1.000000	0.969929	0.990000	1	9.100000e-01	1
KCNU1	157855	broad.mit.edu	37	8	36793196	36793196	+	Missense_Mutation	SNP	T	T	G	rs138865963	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36793196T>G	ENST00000399881.3	+	27	3245	c.3208T>G	c.(3208-3210)Tca>Gca	p.S1070A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1			57					AGAGACACATTCAGACACAAA	0.383000																								0							SO:0001583	missense			ENST00000399881.3	1	1	hg19	CCDS55220.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	7.024	0.559231	0.13436	.	.	ENSG00000215262	ENST00000399881	T	0.35605	1.3	4.96	-9.93	0.00452	.	.	.	.	.	T	0.18800	0.0451	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	9	0.62326	D	0.03	.	0.384	0.00399	0.3759:0.1556:0.229:0.2394	.	1070	A8MYU2	KCNU1_HUMAN	A	1070	ENSP00000382770:S1070A	ENSP00000382770:S1070A	S	+	1	0	KCNU1	36912354	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.320000	0.00513	-3.904000	0.00093	-1.119000	0.02030	TCA		TCGA-IB-7651-01A-11D-2154-08	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	1	0	1	104	396	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	100	389	0	90	2								-20.000000	1	1	120864	4	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR124	25960	broad.mit.edu	37	8	37687516	37687516	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37687516G>T	ENST00000412232.2	+	6	715	c.702G>T	c.(700-702)gaG>gaT	p.E234D	GPR124_ENST00000315215.7_Missense_Mutation_p.E234D	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124			37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		GCCTCCAGGAGGCCCAGCTCT	0.667000																								0							SO:0001583	missense			ENST00000412232.2	0	1	hg19	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254261	0.22965	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.59083	0.29;0.37	5.21	0.839	0.18907	Cysteine-rich flanking region, C-terminal (1);	0.058404	0.64402	D	0.000003	T	0.40956	0.1138	L	0.42632	1.34	0.29098	N	0.881634	B;B	0.26512	0.151;0.012	B;B	0.28553	0.091;0.012	T	0.17930	-1.0353	9	.	.	.	-29.2225	3.1779	0.06575	0.2881:0.0944:0.4902:0.1273	.	234;234	Q96PE1-2;Q96PE1	.;GP124_HUMAN	D	227;234;234	ENSP00000323508:E234D;ENSP00000406367:E234D	.	E	+	3	2	GPR124	37806674	0.046000	0.20272	0.969000	0.41365	0.417000	0.31264	0.393000	0.20817	0.205000	0.20568	-0.448000	0.05591	GAG		TCGA-IB-7651-01A-11D-2154-08	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2	0	0	0	14	50	0	12	0	1	0	217	0	12	2		0	0	0	0	0	2	1	9.998531e-01	14	49	0	12	2								-20.000000	1	1	120718	2	27	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999612	0.990000	1	9.900000e-01	1
GPR124	25960	broad.mit.edu	37	8	37691268	37691268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37691268G>A	ENST00000412232.2	+	10	1372	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	GPR124_ENST00000315215.7_Silent_p.E453E	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124			37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		ACACAGCCGAGGCCGCTAGCT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000412232.2	1	1	hg19	CCDS6097.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2	1	0	1	96	370	0	94	0	1	0	168	0	94	2		0	0	0	0	0	2	1	1	95	367	0	93	2								-3.670191	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB11FIP1	80223	broad.mit.edu	37	8	37732351	37732351	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732351G>T	ENST00000330843.4	-	3	1316	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)			49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		AGACAGCAAAGAGGACCTCCT	0.562000																								0							SO:0001583	missense			ENST00000330843.4	1	1	hg19	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050679	0.55218	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.38240	1.95;1.95;1.23;1.15	4.91	4.91	0.64330	.	0.312246	0.28093	N	0.016627	T	0.56819	0.2011	M	0.72894	2.215	0.34544	D	0.71056	D;D;D;D	0.76494	0.989;0.99;0.993;0.999	P;D;P;D	0.64595	0.768;0.912;0.884;0.927	T	0.70171	-0.4945	10	0.56958	D	0.05	-6.8887	14.5917	0.68371	0.0:0.1465:0.8535:0.0	.	287;287;435;435	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	Y	435;435;287;287	ENSP00000287263:S435Y;ENSP00000331342:S435Y;ENSP00000430009:S287Y;ENSP00000430680:S287Y	ENSP00000287263:S435Y	S	-	2	0	RAB11FIP1	37851509	1.000000	0.71417	0.925000	0.36789	0.612000	0.37316	4.742000	0.62103	2.264000	0.75181	0.563000	0.77884	TCT		TCGA-IB-7651-01A-11D-2154-08	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	1	0	0	85	790	0	167	1	9.999917e-01	14	137	0	167	2		0	0	0	0	0	2	1	1	84	775	0	165	2								-3.221883	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.910000	1.000000	1.000000	0.993607	0.990000	1	9.900000e-01	1
RAB11FIP1	80223	broad.mit.edu	37	8	37732467	37732467	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732467C>T	ENST00000330843.4	-	3	1200	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Silent_p.P248P|RAB11FIP1_ENST00000524118.1_Silent_p.P248P|RAB11FIP1_ENST00000287263.4_Silent_p.P396P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)			49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		GTCGGTAGGACGGCAGGGTCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000330843.4	1	1	hg19	CCDS34882.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	1	0	1	88	352	0	68	1	1	54	112	0	68	2		0	0	0	0	0	2	1	1	88	342	1	67	21								-20.000000	1	1	121412	1	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOT1L1	137362	broad.mit.edu	37	8	37794814	37794814	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37794814A>G	ENST00000307599.4	-	4	599	c.500T>C	c.(499-501)aTa>aCa	p.I167T	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1			14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		ATTGAGGAGTATGTCGGGGTC	0.527000																								0							SO:0001583	missense			ENST00000307599.4	0	1	hg19	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	A	7.331	0.618961	0.14129	.	.	ENSG00000169154	ENST00000307599	D	0.90197	-2.63	5.04	0.786	0.18590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.638950	0.04042	N	0.303177	D	0.83760	0.5324	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.19148	0.024	T	0.70854	-0.4759	10	0.72032	D	0.01	0.6327	4.5629	0.12168	0.4287:0.1544:0.0:0.4168	.	167	Q8NHS2	AATC2_HUMAN	T	167	ENSP00000303077:I167T	ENSP00000303077:I167T	I	-	2	0	GOT1L1	37913971	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	0.839000	0.27586	0.237000	0.21200	-0.468000	0.05107	ATA		TCGA-IB-7651-01A-11D-2154-08	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	0	0	0	5	98	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.391240e-01	5	98	0	14	2								-8.904217	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.590000	0.230000	1.000000	1.000000	0.618006	0.590000	0	3.800000e-01	8.600000e-01
STAR	6770	broad.mit.edu	37	8	38002748	38002748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38002748C>T	ENST00000276449.4	-	6	1182	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein			11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)			ACCTTGAGGTCGATGCTGAGT	0.557000																								0							SO:0001583	missense			ENST00000276449.4	1	1	hg19	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417682	0.83449	.	.	ENSG00000147465	ENST00000276449;ENST00000522753	D	0.84370	-1.84	5.86	5.86	0.93980	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.983;0.998	D	0.92218	0.5782	10	0.45353	T	0.12	-45.589	20.1931	0.98233	0.0:1.0:0.0:0.0	.	208;246	E7ETA9;P49675	.;STAR_HUMAN	N	246;208	ENSP00000276449:D246N	ENSP00000276449:D246N	D	-	1	0	STAR	38121905	1.000000	0.71417	0.997000	0.53966	0.473000	0.32948	6.559000	0.73946	2.771000	0.95319	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	1	0	1	59	267	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1	59	258	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAR	6770	broad.mit.edu	37	8	38006170	38006170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006170C>T	ENST00000276449.4	-	2	613	c.167G>A	c.(166-168)aGc>aAc	p.S56N	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein			11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)			GAGTAGAGAGCTCCGCCGCCG	0.642000																								0							SO:0001583	missense			ENST00000276449.4	1	1	hg19	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.55|19.55	3.848541|3.848541	0.71603|0.71603	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000522050|ENST00000276449	.|D	.|0.86366	.|-2.11	5.39|5.39	5.39|5.39	0.77823|0.77823	.|START-like domain (1);	.|0.035602	.|0.85682	.|D	.|0.000000	D|D	0.86859|0.86859	0.6034|0.6034	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.11329	.|0.006	T|T	0.82099|0.82099	-0.0625|-0.0625	5|10	.|0.33940	.|T	.|0.23	-21.6343|-21.6343	19.5117|19.5117	0.95144|0.95144	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|56	.|P49675	.|STAR_HUMAN	T|N	35|56	.|ENSP00000276449:S56N	.|ENSP00000276449:S56N	A|S	-|-	1|2	0|0	STAR|STAR	38125327|38125327	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.778000|0.778000	0.44026|0.44026	2.710000|2.710000	0.47169|0.47169	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	1	0	1	48	233	0	62	0	0	1	0	0	62	2		0	0	0	0	0	2	1	1	48	227	0	61	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STAR	6770	broad.mit.edu	37	8	38006257	38006257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006257G>A	ENST00000276449.4	-	2	526	c.80C>T	c.(79-81)gCt>gTt	p.A27V	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein			11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)			GGCCATCACAGCCTGTTGCCT	0.602000																								0							SO:0001583	missense			ENST00000276449.4	1	1	hg19	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169796	0.78452	.	.	ENSG00000147465	ENST00000276449	D	0.91295	-2.82	5.28	5.28	0.74379	.	0.046597	0.85682	D	0.000000	D	0.94699	0.8290	M	0.81112	2.525	0.80722	D	1	D	0.56968	0.978	P	0.57468	0.821	D	0.95149	0.8271	10	0.87932	D	0	-11.4038	19.2762	0.94032	0.0:0.0:1.0:0.0	.	27	P49675	STAR_HUMAN	V	27	ENSP00000276449:A27V	ENSP00000276449:A27V	A	-	2	0	STAR	38125414	1.000000	0.71417	0.098000	0.21074	0.326000	0.28443	8.819000	0.91997	2.630000	0.89119	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	1	0	1	30	186	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	31	185	0	45	2								-3.323919	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999623	0.990000	1	9.900000e-01	1
DDHD2	23259	broad.mit.edu	37	8	38103326	38103326	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38103326G>A	ENST00000397166.2	+	8	1440	c.915G>A	c.(913-915)ctG>ctA	p.L305L	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_5'Flank|DDHD2_ENST00000520272.2_Silent_p.L305L	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2			28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		ACACAATTCTGGATGTCTTCT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000397166.2	1	1	hg19	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	8.271	0.813372	0.16537	.	.	ENSG00000085788	ENST00000532106	.	.	.	5.55	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0366	13.9591	0.64168	0.0733:0.0:0.9267:0.0	.	.	.	.	X	98	.	.	W	+	2	0	DDHD2	38222483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	1.482000	0.48325	0.585000	0.79938	TGG		TCGA-IB-7651-01A-11D-2154-08	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	1	0	1	128	602	0	158	1	9.999957e-01	10	73	0	158	2		0	0	0	0	0	2	1	1	122	592	0	158	2								-2.663979	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDHD2	23259	broad.mit.edu	37	8	38105252	38105252	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38105252G>T	ENST00000397166.2	+	10	1672	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000529845.1_5'Flank|DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2			28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		TATTGTAATGGATCAAGGAGA	0.299000																								0							SO:0001583	missense			ENST00000397166.2	1	1	hg19	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360789	0.61403	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T	0.33438	1.41;1.41	5.88	5.88	0.94601	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);	0.876669	0.10238	N	0.698732	T	0.29458	0.0734	L	0.50333	1.59	0.80722	D	1	B;B	0.26041	0.14;0.028	B;B	0.26770	0.073;0.015	T	0.14952	-1.0454	10	0.02654	T	1	-3.7601	15.7372	0.77853	0.0:0.0:1.0:0.0	.	195;383	B4DSR3;O94830	.;DDHD2_HUMAN	Y	383;383;195;2	ENSP00000380352:D383Y;ENSP00000429932:D383Y	ENSP00000380352:D383Y	D	+	1	0	DDHD2	38224409	1.000000	0.71417	0.888000	0.34837	0.932000	0.56968	6.196000	0.72094	2.788000	0.95919	0.555000	0.69702	GAT		TCGA-IB-7651-01A-11D-2154-08	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	1	0	1	46	264	0	88	1	9.998340e-01	17	60	0	88	2		0	0	0	0	0	2	1	1	46	262	0	88	2								-3.323597	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
PPAPDC1B	84513	broad.mit.edu	37	8	38123804	38123804	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38123804C>T	ENST00000424479.2	-	6	509	c.489G>A	c.(487-489)gcG>gcA	p.A163A	PPAPDC1B_ENST00000530588.1_5'Flank|PPAPDC1B_ENST00000531823.1_Silent_p.A31A|PPAPDC1B_ENST00000529359.1_Silent_p.A122A|PPAPDC1B_ENST00000422581.2_Silent_p.A163A	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B			2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)		GGTAGAAGGACGCAAAGGCCA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000424479.2	1	1	hg19	CCDS47841.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2	1	0	1	11	83	0	26	1	9.998782e-01	42	95	0	26	2		0	0	0	0	0	2	1	9.985890e-01	11	82	0	26	2								-7.860106	1	1	120888	14	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.720000	1.000000	1.000000	0.976059	0.990000	1	9.800000e-01	1
C8orf86	389649	broad.mit.edu	37	8	38369971	38369971	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38369971G>A	ENST00000358138.1	-	3	630	c.606C>T	c.(604-606)acC>acT	p.T202T	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86			5					cccaccccagggtttctaatt	0.527000																								0							SO:0001819	synonymous_variant			ENST00000358138.1	1	1	hg19	CCDS6108.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1	1	0	1	65	269	0	76		0	0	0	0	76	2		0	0	0	0	1	2	1	1	64	262	0	76	2								-20.000000	1	1	121412	1	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACC1	6867	broad.mit.edu	37	8	38677288	38677288	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677288A>G	ENST00000317827.4	+	3	905	c.526A>G	c.(526-528)Act>Gct	p.T176A	TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000379931.3_Missense_Mutation_p.T176A|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1			17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		TGGCTGTGTAACTGCAGTCTC	0.557000																								0							SO:0001583	missense			ENST00000317827.4	1	1	hg19	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	4.909	0.168925	0.09339	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.09723	3.14;3.13;2.95;3.15;3.15	4.65	-1.92	0.07618	.	0.905143	0.09444	N	0.801377	T	0.07413	0.0187	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28933	0.0;0.085;0.228	B;B;B	0.27796	0.001;0.039;0.083	T	0.44236	-0.9341	10	0.11182	T	0.66	0.1713	5.7161	0.17960	0.2284:0.3746:0.397:0.0	.	192;176;131	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	A	192;131;148;176;176	ENSP00000393647:T192A;ENSP00000428706:T131A;ENSP00000430355:T148A;ENSP00000321703:T176A;ENSP00000369263:T176A	ENSP00000321703:T176A	T	+	1	0	TACC1	38796445	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-0.796000	0.04575	-0.203000	0.10251	0.460000	0.39030	ACT		TCGA-IB-7651-01A-11D-2154-08	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	0	0	0	17	556	0	126	1	9.062444e-01	3	133	0	126	2		0	0	0	0	0	2	1	9.999619e-01	17	549	0	126	2								-15.002460	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.340000	0.200000	0.530000	0.340000	0.360575	0.340000	0	2.700000e-01	4.400000e-01
TACC1	6867	broad.mit.edu	37	8	38677324	38677324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677324C>T	ENST00000317827.4	+	3	941	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TACC1_ENST00000443286.2_Missense_Mutation_p.P204S|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000379931.3_Missense_Mutation_p.P188S|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1			17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		TTCCAGCCCGCCAGACGCCCT	0.582000																								0							SO:0001583	missense			ENST00000317827.4	1	1	hg19	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	0.376	-0.931298	0.02359	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.11604	2.95;2.91;2.76;3.0;3.01	4.76	1.72	0.24424	.	0.465646	0.19722	N	0.107580	T	0.04003	0.0112	N	0.11560	0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36407	-0.9749	10	0.23891	T	0.37	-1.0066	0.6547	0.00832	0.1877:0.3759:0.1825:0.2539	.	204;188;143	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	S	204;143;160;188;188	ENSP00000393647:P204S;ENSP00000428706:P143S;ENSP00000430355:P160S;ENSP00000321703:P188S;ENSP00000369263:P188S	ENSP00000321703:P188S	P	+	1	0	TACC1	38796481	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.160000	0.16462	0.599000	0.29845	-1.259000	0.01468	CCA		TCGA-IB-7651-01A-11D-2154-08	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	1	0	1	96	396	0	100	1	1	7	143	0	100	2		0	0	0	0	0	2	1	1	96	392	0	98	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TACC1	6867	broad.mit.edu	37	8	38678031	38678031	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38678031C>T	ENST00000317827.4	+	3	1648	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000379931.3_Silent_p.D423D|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Silent_p.D228D	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1			17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		ATAACTTTGACGAATCCATGG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000317827.4	1	1	hg19	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	7.181	0.589634	0.13812	0.0	1.16E-4	ENSG00000147526	ENST00000521866;ENST00000518809	.	.	.	5.69	-6.11	0.02131	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55431	-0.8142	4	.	.	.	-10.6288	10.8991	0.47040	0.0:0.233:0.0937:0.6733	.	.	.	.	M	198;61	.	.	T	+	2	0	TACC1	38797188	0.101000	0.21875	0.274000	0.24659	0.684000	0.39900	-0.691000	0.05133	-1.564000	0.01678	-0.768000	0.03414	ACG		TCGA-IB-7651-01A-11D-2154-08	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	0	0	0	187	922	0	218	1	1	11	234	0	218	2		0	0	0	0	0	2	1	1	185	911	0	217	2								-20.000000	1	1	121412	2	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM9	8754	broad.mit.edu	37	8	38940233	38940233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38940233G>A	ENST00000487273.2	+	17	2033	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9			31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		AAGTGTCATGGACATGGGGTA	0.358000																								0							SO:0001583	missense			ENST00000487273.2	1	1	hg19	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951111	0.92660	.	.	ENSG00000168615	ENST00000487273	D	0.97232	-4.3	5.61	5.61	0.85477	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052098	0.85682	D	0.000000	D	0.97688	0.9242	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	D	0.97468	1.0039	10	0.46703	T	0.11	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	652	Q13443	ADAM9_HUMAN	E	652	ENSP00000419446:G652E	ENSP00000369249:G652E	G	+	2	0	ADAM9	39059390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.846000	0.69444	2.803000	0.96430	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2	1	0	1	77	324	0	57	1	1	386	684	0	57	2		0	0	0	0	0	2	1	1	70	315	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM32	203102	broad.mit.edu	37	8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39111964C>T	ENST00000379907.4	+	18	2061	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L|ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32			31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		TGCCATTGTTCGCCAGGCTAT	0.363000																								0							SO:0001583	missense			ENST00000379907.4	0	1	hg19	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573413	0.03882	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87491	-2.26;-2.26;-2.26	4.06	-7.54	0.01332	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	3.647890	0.01190	N	0.007305	T	0.80177	0.4575	M	0.66939	2.045	0.09310	N	1	P;P;B;B	0.52170	0.87;0.951;0.114;0.074	B;B;B;B	0.36092	0.101;0.217;0.011;0.031	T	0.75434	-0.3319	10	0.30078	T	0.28	.	5.7257	0.18013	0.5765:0.1463:0.0:0.2773	.	546;69;539;645	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	L	546;539;645	ENSP00000405978:S546L;ENSP00000429422:S539L;ENSP00000369238:S645L	ENSP00000369238:S645L	S	+	2	0	ADAM32	39231121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.431000	0.02432	-1.735000	0.01353	-0.314000	0.08810	TCG		TCGA-IB-7651-01A-11D-2154-08	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	1	0	1	9	64	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	9.952119e-01	9	64	0	15	2								-15.745830	1	1	120544	3	25	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.700000	1.000000	1.000000	0.974457	0.990000	1	9.900000e-01	1
ADAM18	8749	broad.mit.edu	37	8	39534975	39534975	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39534975T>G	ENST00000265707.5	+	15	1596	c.1551T>G	c.(1549-1551)tgT>tgG	p.C517W	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18			71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)		CATTTGCCTGTTTTAAAGAAG	0.328000																								0							SO:0001583	missense			ENST00000265707.5	1	1	hg19	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805065	0.50315	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.63744	-0.06;-0.06	4.3	0.516	0.17019	ADAM, cysteine-rich (2);	0.000000	0.51477	D	0.000091	T	0.81997	0.4941	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79645	-0.1717	10	0.87932	D	0	.	6.6061	0.22726	0.0:0.265:0.0:0.735	.	493;517	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	W	517;493;449	ENSP00000265707:C517W;ENSP00000369195:C493W	ENSP00000265707:C517W	C	+	3	2	ADAM18	39654132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.157000	0.16402	0.085000	0.17107	0.460000	0.39030	TGT		TCGA-IB-7651-01A-11D-2154-08	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	1	0	1	41	183	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	40	179	0	37	2								-19.999870	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM18	8749	broad.mit.edu	37	8	39581413	39581413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39581413G>A	ENST00000265707.5	+	19	2209	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T|ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18			71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)		CAGAGAGAATGCAGAGTATAA	0.279000																								0							SO:0001583	missense			ENST00000265707.5	1	1	hg19	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	g	4.491	0.091009	0.08632	2.27E-4	0.0	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	D;D;D	0.93859	-3.3;-3.3;-3.3	4.7	-5.63	0.02474	.	1.710450	0.03277	N	0.185673	T	0.79730	0.4496	N	0.04994	-0.135	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.72207	-0.4360	10	0.15499	T	0.54	.	1.4074	0.02283	0.2341:0.1267:0.3875:0.2518	.	698;722	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	722;698;136	ENSP00000265707:A722T;ENSP00000369195:A698T;ENSP00000444729:A136T	ENSP00000265707:A722T	A	+	1	0	ADAM18	39700570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.137000	0.03219	-0.649000	0.05430	-0.442000	0.05670	GCA		TCGA-IB-7651-01A-11D-2154-08	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	1	0	1	54	233	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1	53	230	0	96	2								-20.000000	1	1	121382	1	29	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM2	2515	broad.mit.edu	37	8	39606846	39606846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39606846G>A	ENST00000265708.4	-	18	2102	c.1999C>T	c.(1999-2001)Cca>Tca	p.P667S	ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2			53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)		AGTCTGGCTGGTATAGCTACA	0.333000																								0							SO:0001583	missense			ENST00000265708.4	1	1	hg19	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444814	0.04604	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02032	5.13;4.49;5.37;5.3	1.93	-3.85	0.04243	.	.	.	.	.	T	0.01800	0.0057	L	0.40543	1.245	0.09310	N	1	B;B;P;B	0.38078	0.036;0.127;0.617;0.007	B;B;B;B	0.37144	0.013;0.045;0.242;0.006	T	0.43458	-0.9390	9	0.12430	T	0.62	.	6.3253	0.21240	0.0:0.5358:0.2579:0.2063	.	604;511;648;667	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	S	648;511;667;604	ENSP00000343854:P648S;ENSP00000369182:P511S;ENSP00000265708:P667S;ENSP00000429352:P604S	ENSP00000265708:P667S	P	-	1	0	ADAM2	39726003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.825000	0.00747	-1.126000	0.02929	-0.300000	0.09419	CCA		TCGA-IB-7651-01A-11D-2154-08	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	1	0	1	61	267	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1	59	264	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IDO1	3620	broad.mit.edu	37	8	39780089	39780089	+	Silent	SNP	C	C	T	rs115833371	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39780089C>T	ENST00000518237.1	+	6	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Silent_p.F152F|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1			12				L-Tryptophan(DB00150)|Melatonin(DB01065)	ACGTTTTGTTCTCATTTCGTG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000518237.1	1	1	hg19	CCDS47847.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	1	0	1	51	199	0	38	1	1	119	326	0	38	2		0	0	0	0	0	2	1	1	51	196	0	37	2								-3.259312	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IDO2	169355	broad.mit.edu	37	8	39872830	39872830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39872830C>T	ENST00000389060.4	+	10	933	c.933C>T	c.(931-933)atC>atT	p.I311I	IDO2_ENST00000502986.2_Silent_p.I324I|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2			18					TAGAAGACATCCACTCAGCAC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000389060.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	1	0	1	37	180	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	1	36	177	0	64	2								-3.389605	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
IDO2	169355	broad.mit.edu	37	8	39873093	39873093	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39873093T>C	ENST00000389060.4	+	10	1196	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	IDO2_ENST00000502986.2_Missense_Mutation_p.L412S|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2			18					GATAAGACCTTGGAGTCAATC	0.567000																								0							SO:0001583	missense			ENST00000389060.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	7.742	0.701517	0.15172	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.46819	0.86;0.86	5.93	1.95	0.26073	.	0.356037	0.26700	N	0.022959	T	0.28764	0.0713	L	0.36672	1.1	0.09310	N	1	B;B	0.16802	0.019;0.013	B;B	0.12837	0.005;0.008	T	0.09487	-1.0672	9	.	.	.	.	1.7147	0.02899	0.2668:0.0793:0.1567:0.4972	.	412;399	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	S	412;399	ENSP00000443432:L412S;ENSP00000426447:L399S	.	L	+	2	0	IDO2	39992250	0.009000	0.17119	0.005000	0.12908	0.014000	0.08584	0.496000	0.22499	0.455000	0.26910	0.533000	0.62120	TTG		TCGA-IB-7651-01A-11D-2154-08	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	0	0	1	78	385	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1	77	383	0	88	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFRP1	6422	broad.mit.edu	37	8	41122786	41122786	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41122786G>A	ENST00000220772.3	-	3	1182	c.845C>T	c.(844-846)aCg>aTg	p.T282M	SFRP1_ENST00000379845.3_Missense_Mutation_p.T146M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1			7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		GTGGATGGCCGTCAGCAAGTA	0.498000																								0							SO:0001583	missense			ENST00000220772.3	1	1	hg19	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255938	0.80135	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.27557	1.66;1.66	4.7	4.7	0.59300	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.57536	1.79	0.80722	D	1	P	0.42757	0.789	B	0.41332	0.354	T	0.17258	-1.0375	10	0.41790	T	0.15	.	16.8129	0.85725	0.0:0.0:1.0:0.0	.	282	Q8N474	SFRP1_HUMAN	M	282;146;282	ENSP00000220772:T282M;ENSP00000369174:T146M	ENSP00000220772:T282M	T	-	2	0	SFRP1	41241943	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	5.449000	0.66619	2.444000	0.82710	0.563000	0.77884	ACG		TCGA-IB-7651-01A-11D-2154-08	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	0	0	1	85	304	0	60	0	3.043255e-01	0	5	0	60	2		0	0	0	0	0	2	1	1	85	298	0	58	2								-20.000000	1	1	121412	4	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SFRP1	6422	broad.mit.edu	37	8	41161013	41161013	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41161013C>A	ENST00000220772.3	-	2	926	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	SFRP1_ENST00000379845.3_Missense_Mutation_p.A61S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1			7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		TCAATGATGGCCTCAGATTTC	0.522000																								0							SO:0001583	missense			ENST00000220772.3	1	1	hg19	CCDS34886.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931677	0.34096	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.29917	1.55;1.55	5.6	5.6	0.85130	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.186377	0.46145	D	0.000304	T	0.18425	0.0442	N	0.17474	0.49	0.41152	D	0.986038	B	0.13145	0.007	B	0.14023	0.01	T	0.08310	-1.0728	10	0.09338	T	0.73	.	13.877	0.63660	0.1523:0.8477:0.0:0.0	.	197	Q8N474	SFRP1_HUMAN	S	197;61;197	ENSP00000220772:A197S;ENSP00000369174:A61S	ENSP00000220772:A197S	A	-	1	0	SFRP1	41280170	1.000000	0.71417	0.998000	0.56505	0.510000	0.34073	1.723000	0.38053	2.793000	0.96121	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	1	0	0	16	189	0	44	0	1.099893e-01	0	7	0	44	2		0	0	0	0	0	2	1	9.999347e-01	16	185	0	41	2								-19.952770	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.900000	0.540000	1.000000	1.000000	0.873567	0.900000	1	7.100000e-01	1
AGPAT6	137964	broad.mit.edu	37	8	41467268	41467268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41467268C>T	ENST00000396987.3	+	4	1257	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6			14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		CTCCAGAGTTCGAGCTCTCTG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000396987.3	1	1	hg19	CCDS6117.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	1	0	1	115	441	0	85	1	1	51	201	0	85	2		0	0	0	0	0	2	1	1	112	427	0	84	2								-3.558636	1	1	121412	2	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK1	286	broad.mit.edu	37	8	41554206	41554206	+	Missense_Mutation	SNP	G	G	A	rs146518198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41554206G>A	ENST00000347528.4	-	25	2806	c.2723C>T	c.(2722-2724)cCg>cTg	p.P908L	ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000289734.7_Missense_Mutation_p.P908L|ANK1_ENST00000396942.1_Missense_Mutation_p.P908L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic			122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		TGTATGCACCGGGCTGGCCAC	0.622000																								0							SO:0001583	missense			ENST00000347528.4	1	1	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117445	0.77323	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.67171	-0.24;-0.24;-0.21;-0.19;-0.21;-0.2;-0.25	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.83692	2.655	0.80722	D	1	B;B;B;P;B;B	0.37636	0.178;0.414;0.012;0.603;0.178;0.413	B;B;B;B;B;B	0.34138	0.082;0.039;0.01;0.176;0.082;0.037	T	0.74423	-0.3670	10	0.48119	T	0.1	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	949;908;908;908;908;224	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	908;908;908;908;908;908;949;908	ENSP00000339620:P908L;ENSP00000289734:P908L;ENSP00000369082:P908L;ENSP00000380149:P908L;ENSP00000380147:P908L;ENSP00000309131:P908L;ENSP00000265709:P949L	ENSP00000265709:P949L	P	-	2	0	ANK1	41673363	1.000000	0.71417	0.962000	0.40283	0.927000	0.56198	9.553000	0.98118	2.686000	0.91538	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1	39	226	0	46	1	7.656724e-01	10	8	0	46	2		0	0	0	0	0	2	1	1	38	216	0	44	2								-3.024486	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
ANK1	286	broad.mit.edu	37	8	41561607	41561607	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41561607G>A	ENST00000347528.4	-	20	2330	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000289734.7_Silent_p.I749I|ANK1_ENST00000396942.1_Silent_p.I749I|ANK1_ENST00000379758.2_Silent_p.I749I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic			122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		GCAGAGTCACGATGTCTGTGT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000347528.4	1	1	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997392	0.02145	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52931	-0.8509	4	.	.	.	.	6.4693	0.21999	0.5719:0.0725:0.2188:0.1368	.	.	.	.	C	63	.	.	R	-	1	0	ANK1	41680764	0.000000	0.05858	0.062000	0.19696	0.002000	0.02628	-2.265000	0.01172	-2.763000	0.00369	-0.314000	0.08810	CGT		TCGA-IB-7651-01A-11D-2154-08	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1	82	402	0	95	1	9.052215e-01	10	12	0	95	2		0	0	0	0	0	2	1	1	81	394	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANK1	286	broad.mit.edu	37	8	41571725	41571725	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41571725G>A	ENST00000347528.4	-	16	1832	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000289734.7_Silent_p.D583D|ANK1_ENST00000396942.1_Silent_p.D583D|ANK1_ENST00000379758.2_Silent_p.D583D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic			122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		GCTTGACGATGTCCAGGTTGT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000347528.4	1	1	hg19	CCDS6119.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1	18	98	0	22	1	8.832295e-01	10	13	0	22	2		0	0	0	0	0	2	1	9.999885e-01	18	97	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998912	0.990000	1	9.900000e-01	1
FBXO25	26260	broad.mit.edu	37	8	418787	418787	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:418787G>A	ENST00000276326.5	+	11	1206	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N|FBXO25_ENST00000352684.2_Missense_Mutation_p.D287N|FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25			10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)			GCACTTCATCGACCTCTTCAA	0.582000																								0							SO:0001583	missense			ENST00000276326.5	1	1	hg19	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567295	0.65651	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T	0.18338	2.22;2.25	5.73	5.73	0.89815	.	0.100946	0.64402	D	0.000001	T	0.33265	0.0857	L	0.42686	1.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.01382	-1.1369	10	0.16420	T	0.52	-37.9512	17.3742	0.87387	0.0:0.0:1.0:0.0	.	287;354;363	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	N	354;287;363;326;287	ENSP00000342077:D354N;ENSP00000276326:D363N	ENSP00000276326:D363N	D	+	1	0	FBXO25	408787	1.000000	0.71417	0.979000	0.43373	0.978000	0.69477	4.992000	0.63889	2.702000	0.92279	0.467000	0.42956	GAC		TCGA-IB-7651-01A-11D-2154-08	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	1	0	1	33	185	0	40	1	9.999999e-01	42	110	0	40	2		0	0	0	0	0	2	1	1	32	182	0	38	2								-20.000000	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
AP3M2	10947	broad.mit.edu	37	8	42012394	42012394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42012394G>T	ENST00000518421.1	+	3	480	c.189G>T	c.(187-189)aaG>aaT	p.K63N	AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|RP11-589C21.5_ENST00000564481.1_RNA|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N|AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit			17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		ACCGCCACAAGATCTTTTTTG	0.488000																								0							SO:0001583	missense			ENST00000518421.1	1	1	hg19	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699415	0.30142	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000522288;ENST00000517922	T;T;T;T	0.75050	-0.88;-0.88;-0.88;-0.9	5.29	5.29	0.74685	Longin-like (1);AP complex, mu/sigma subunit (1);	0.108971	0.64402	D	0.000009	T	0.43366	0.1244	N	0.01197	-0.965	0.44309	D	0.99718	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52117	-0.8618	10	0.02654	T	1	-23.4747	14.5269	0.67894	0.0:0.1463:0.8537:0.0	.	63;63	E7ER80;P53677	.;AP3M2_HUMAN	N	63	ENSP00000428787:K63N;ENSP00000174653:K63N;ENSP00000380132:K63N;ENSP00000429435:K63N	ENSP00000174653:K63N	K	+	3	2	AP3M2	42131551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.038000	0.30254	2.477000	0.83638	0.555000	0.69702	AAG		TCGA-IB-7651-01A-11D-2154-08	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1	1	0	1	26	312	0	59	1	9.365871e-01	12	46	0	59	2		0	0	0	0	0	2	1	9.999999e-01	23	307	0	59	2								-8.391723	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.890000	0.600000	1.000000	1.000000	0.876477	0.890000	1	7.300000e-01	1
AP3M2	10947	broad.mit.edu	37	8	42019805	42019805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42019805C>T	ENST00000518421.1	+	5	743	c.452C>T	c.(451-453)aCg>aTg	p.T151M	AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M|AP3M2_ENST00000517922.1_Missense_Mutation_p.T151M|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit			17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		TCAGGAAGCACGAATGTGGGT	0.453000																								0							SO:0001583	missense			ENST00000518421.1	1	1	hg19	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460315	0.84317	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.1;-1.15	5.43	5.43	0.79202	.	0.044642	0.85682	D	0.000000	T	0.81983	0.4938	M	0.78049	2.395	0.58432	D	0.999999	D;P	0.57571	0.98;0.951	P;P	0.46237	0.508;0.453	T	0.82281	-0.0535	10	0.37606	T	0.19	-25.2187	19.6166	0.95636	0.0:1.0:0.0:0.0	.	151;151	E7ER80;P53677	.;AP3M2_HUMAN	M	151;151;151;36;151	ENSP00000428787:T151M;ENSP00000174653:T151M;ENSP00000380132:T151M;ENSP00000430616:T36M;ENSP00000429435:T151M	ENSP00000174653:T151M	T	+	2	0	AP3M2	42138962	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.947000	0.49058	2.721000	0.93114	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1	0	0	0	180	800	0	142	1	9.999980e-01	25	57	0	142	2		0	0	0	0	0	2	1	1	178	793	0	141	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AP3M2	10947	broad.mit.edu	37	8	42024803	42024803	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42024803A>G	ENST00000518421.1	+	8	1216	c.925A>G	c.(925-927)Act>Gct	p.T309A	AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit			17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		TGAGGGAGTGACTGTCACCAG	0.527000																								0							SO:0001583	missense			ENST00000518421.1	1	1	hg19	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	A	9.609	1.130808	0.21041	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.2	4.01	0.46588	Clathrin adaptor, mu subunit, C-terminal (3);	0.516808	0.21762	N	0.069497	T	0.16342	0.0393	L	0.31926	0.97	0.27209	N	0.959965	B	0.02656	0.0	B	0.09377	0.004	T	0.13764	-1.0497	10	0.27785	T	0.31	0.0121	12.2915	0.54820	0.8585:0.1415:0.0:0.0	.	309	P53677	AP3M2_HUMAN	A	309;309;309;194	ENSP00000428787:T309A;ENSP00000174653:T309A;ENSP00000380132:T309A;ENSP00000430616:T194A	ENSP00000174653:T309A	T	+	1	0	AP3M2	42143960	0.998000	0.40836	0.612000	0.29024	0.571000	0.35966	3.360000	0.52299	0.770000	0.33336	0.533000	0.62120	ACT		TCGA-IB-7651-01A-11D-2154-08	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1	1	0	1	55	267	0	74	1	9.999760e-01	7	72	0	74	2		0	0	0	0	0	2	1	1	55	258	0	73	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLAT	5327	broad.mit.edu	37	8	42037456	42037456	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42037456T>C	ENST00000220809.4	-	12	1607	c.1351A>G	c.(1351-1353)Aag>Gag	p.K451E	PLAT_ENST00000352041.3_Missense_Mutation_p.K405E|PLAT_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E|PLAT_ENST00000524009.1_Missense_Mutation_p.K362E|PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000519510.1_Missense_Mutation_p.K388E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue			27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)	Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCCTCATGCTTGCCGTAGCCG	0.662000																								0							SO:0001583	missense			ENST00000220809.4	0	1	hg19	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213068	0.79352	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.39	5.39	0.77823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.133950	0.64402	D	0.000003	D	0.92080	0.7490	L	0.46819	1.47	0.80722	D	1	D;D;D;B;P;D	0.76494	0.995;0.999;0.999;0.259;0.817;0.998	D;D;D;P;B;D	0.80764	0.945;0.982;0.994;0.539;0.142;0.966	D	0.91523	0.5236	10	0.39692	T	0.17	.	15.7067	0.77588	0.0:0.0:0.0:1.0	.	325;362;388;451;405;451	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	E	451;451;405;388;325;362	ENSP00000392045:K451E;ENSP00000220809:K451E;ENSP00000270188:K405E;ENSP00000428886:K388E;ENSP00000407861:K325E;ENSP00000429401:K362E	ENSP00000220809:K451E	K	-	1	0	PLAT	42156613	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.612000	0.82975	2.168000	0.68352	0.533000	0.62120	AAG		TCGA-IB-7651-01A-11D-2154-08	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	0	0	0	4	86	0	19	1	9.999047e-01	2	705	0	19	2		0	0	0	0	0	2	1	8.919711e-01	4	86	0	18	2								-7.992734	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.550000	0.190000	1.000000	1.000000	0.583420	0.550000	0	3.400000e-01	8.300000e-01
PLAT	5327	broad.mit.edu	37	8	42039493	42039493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42039493C>T	ENST00000220809.4	-	9	1107	c.851G>A	c.(850-852)cGc>cAc	p.R284H	PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H|PLAT_ENST00000524009.1_Missense_Mutation_p.R195H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue			27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)	Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CGTCAGCCTGCGGTTCTTCAG	0.522000																								0							SO:0001583	missense			ENST00000220809.4	1	1	hg19	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	1.133	-0.651723	0.03506	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	6.05	-0.0581	0.13798	Kringle (4);Kringle-like fold (1);	0.766331	0.13192	N	0.406602	T	0.44664	0.1304	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.0;0.002;0.002	B;B;B;B;B	0.10450	0.005;0.005;0.003;0.005;0.004	T	0.25328	-1.0135	10	0.19590	T	0.45	.	1.122	0.01727	0.3109:0.3407:0.1012:0.2473	.	158;195;284;238;284	B4DNJ1;B4DN26;B8ZX62;P00750-3;P00750	.;.;.;.;TPA_HUMAN	H	284;284;238;221;158;195	ENSP00000392045:R284H;ENSP00000220809:R284H;ENSP00000270188:R238H;ENSP00000428886:R221H;ENSP00000407861:R158H;ENSP00000429401:R195H	ENSP00000220809:R284H	R	-	2	0	PLAT	42158650	0.000000	0.05858	0.016000	0.15963	0.015000	0.08874	-1.321000	0.02697	-0.307000	0.08804	-0.158000	0.13435	CGC		TCGA-IB-7651-01A-11D-2154-08	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	1	0	1	29	161	0	38	1	1	27	743	0	38	2		0	0	0	0	0	2	1	1	29	156	0	37	2								-2.945093	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999873	0.990000	1	9.900000e-01	1
IKBKB	3551	broad.mit.edu	37	8	42174349	42174349	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42174349A>G	ENST00000520810.1	+	11	1238	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta			8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GAGGAGGACCAGGAGCTGCTG	0.592000																								0							SO:0001583	missense			ENST00000520810.1	1	1	hg19	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289614	0.95546	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.46	5.46	0.80206	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.77313	2.365	0.80722	D	1	P;D;P;D;D;D	0.89917	0.651;0.997;0.593;0.996;0.991;1.0	B;D;B;D;D;D	0.85130	0.198;0.972;0.229;0.944;0.917;0.997	T	0.80089	-0.1528	10	0.87932	D	0	.	15.4872	0.75575	1.0:0.0:0.0:0.0	.	292;349;128;302;351;351	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	R	351;292;349;128	ENSP00000430684:Q351R;ENSP00000404920:Q292R;ENSP00000430868:Q349R;ENSP00000369030:Q128R	ENSP00000369030:Q128R	Q	+	2	0	IKBKB	42293506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.195000	0.70347	0.528000	0.53228	CAG		TCGA-IB-7651-01A-11D-2154-08	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	0	0	1	30	148	0	44	1	9.999637e-01	26	57	0	44	2		0	0	0	0	0	2	1	1	30	146	0	44	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
IKBKB	3551	broad.mit.edu	37	8	42178258	42178258	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42178258C>T	ENST00000520810.1	+	16	1770	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Silent_p.N305N|IKBKB_ENST00000520835.1_Silent_p.N526N|IKBKB_ENST00000416505.2_Silent_p.N469N	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta			8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATTAGGAGAACGAAGTGAAAC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000520810.1	1	1	hg19	CCDS6128.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	1	0	0	96	412	0	91	1	1	23	96	0	91	2		0	0	0	0	0	2	1	1	94	409	0	91	2								-20.000000	1	1	121412	11	42	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IKBKB	3551	broad.mit.edu	37	8	42183581	42183581	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42183581G>A	ENST00000520810.1	+	20	2266	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T|IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta			8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GCCCTCCACGGCCTCCAACAG	0.597000																								0							SO:0001583	missense			ENST00000520810.1	1	1	hg19	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126295	0.06795	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.75050	-0.82;-0.9;-0.72;2.92	5.59	3.82	0.43975	.	0.700478	0.14486	N	0.316644	T	0.45155	0.1328	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.10450	0.001;0.005;0.001;0.001	T	0.31586	-0.9938	10	0.19590	T	0.45	-19.7841	7.2678	0.26239	0.1521:0.1388:0.7091:0.0	.	635;692;471;694	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	T	694;635;692;471	ENSP00000430684:A694T;ENSP00000404920:A635T;ENSP00000430868:A692T;ENSP00000369030:A471T	ENSP00000369030:A471T	A	+	1	0	IKBKB	42302738	0.004000	0.15560	0.106000	0.21319	0.013000	0.08279	0.339000	0.19875	0.743000	0.32719	-0.448000	0.05591	GCC		TCGA-IB-7651-01A-11D-2154-08	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	1	0	1	67	261	0	65	1	1	23	85	0	65	2		0	0	0	0	0	2	1	1	64	260	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLB	5423	broad.mit.edu	37	8	42218842	42218842	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42218842C>A	ENST00000265421.4	+	10	750	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	POLB_ENST00000538005.1_Missense_Mutation_p.L40I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta			16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)	Cytarabine(DB00987)	CATGGATGTTCTCCTGACCCA	0.423000								DNA polymerases (catalytic subunits)																0							SO:0001583	missense			ENST00000265421.4	0	1	hg19	CCDS6129.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.86|13.86|13.86	2.363974|2.363974|2.363974	0.41902|0.41902|0.41902	.|.|.	.|.|.	ENSG00000070501|ENSG00000070501|ENSG00000070501	ENST00000518579;ENST00000517393|ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005|ENST00000521290	.|T;T;T;T|.	.|0.57595|.	.|0.39;0.39;0.39;1.1|.	5.58|5.58|5.58	5.58|5.58|5.58	0.84498|0.84498|0.84498	.|DNA-directed DNA polymerase X (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.69079|0.69079|0.69079	0.3071|0.3071|0.3071	L|L|L	0.49640|0.49640|0.49640	1.575|1.575|1.575	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;D|.	.|0.56746|.	.|0.91;0.977|.	.|P;P|.	.|0.60173|.	.|0.761;0.87|.	T|T|T	0.65417|0.65417|0.65417	-0.6173|-0.6173|-0.6173	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-11.6267|-11.6267|-11.6267	17.0639|17.0639|17.0639	0.86554|0.86554|0.86554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|194;194|.	.|Q53EV2;P06746|.	.|.;DPOLB_HUMAN|.	L|I|Y	51;9|194;40;229;40|124	.|ENSP00000265421:L194I;ENSP00000430610:L40I;ENSP00000430784:L229I;ENSP00000440497:L40I|.	.|ENSP00000265421:L194I|.	F|L|S	+|+|+	3|1|2	2|0|0	POLB|POLB|POLB	42337999|42337999|42337999	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.947000|0.947000|0.947000	0.38551|0.38551|0.38551	0.016000|0.016000|0.016000	0.09150|0.09150|0.09150	5.810000|5.810000|5.810000	0.69179|0.69179|0.69179	2.629000|2.629000|2.629000	0.89072|0.89072|0.89072	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TTC|CTC|TCT		TCGA-IB-7651-01A-11D-2154-08	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	0	0	0	8	244	0	54	1	9.736524e-01	13	184	0	54	2		0	0	0	0	0	2	1	9.884374e-01	8	238	0	54	2								-9.128223	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.380000	0.180000	0.670000	0.360000	0.403334	0.380000	0	2.600000e-01	5.300000e-01
DKK4	27121	broad.mit.edu	37	8	42233345	42233345	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42233345A>G	ENST00000220812.2	-	2	301	c.115T>C	c.(115-117)Tca>Cca	p.S39P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4			14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		AGGCACTGTGAGCCCTGTGGA	0.547000																								0							SO:0001583	missense			ENST00000220812.2	1	1	hg19	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483972	0.26598	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.32023	1.47	5.03	1.19	0.21007	.	0.143817	0.32430	N	0.006120	T	0.20047	0.0482	L	0.34521	1.04	0.21473	N	0.999677	B	0.06786	0.001	B	0.04013	0.001	T	0.15665	-1.0429	10	0.40728	T	0.16	-7.6035	8.0519	0.30583	0.7474:0.0:0.2526:0.0	.	39	Q9UBT3	DKK4_HUMAN	P	39	ENSP00000220812:S39P	ENSP00000220812:S39P	S	-	1	0	DKK4	42352502	0.596000	0.26866	0.774000	0.31636	0.596000	0.36781	1.928000	0.40104	0.023000	0.15187	0.260000	0.18958	TCA		TCGA-IB-7651-01A-11D-2154-08	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1	1	0	1	27	107	0	20	1	3.588056e-01	2	4	0	20	2		0	0	0	0	0	2	1	1	27	105	0	20	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
RNF170	81790	broad.mit.edu	37	8	42725169	42725169	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42725169G>T	ENST00000534961.1	-	4	776	c.300C>A	c.(298-300)acC>acA	p.T100T	RNF170_ENST00000526349.1_Silent_p.T16T|RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000319073.4_Missense_Mutation_p.P29Q|RNF170_ENST00000527424.1_Silent_p.T100T	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170			3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		GTCCACAGTTGGTCTCCACCG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000534961.1	1	1	hg19	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	G	7.860	0.725791	0.15439	.	.	ENSG00000120925	ENST00000319073	T	0.80123	-1.34	5.63	-11.3	0.00108	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.22591	N	0.998954	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	8	0.32370	T	0.25	-4.8576	11.8869	0.52608	0.0:0.1664:0.5815:0.2521	.	29	Q96K19-4	.	Q	29	ENSP00000325969:P29Q	ENSP00000325969:P29Q	P	-	2	0	RNF170	42844326	0.236000	0.23804	0.671000	0.29857	0.242000	0.25591	-0.794000	0.04584	-1.920000	0.01069	-1.085000	0.02201	CCA		TCGA-IB-7651-01A-11D-2154-08	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	0	0	0	28	137	0	32	1	9.999574e-01	19	63	0	32	2		0	0	0	0	0	2	1	1	28	134	0	32	2								-3.162837	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999959	0.990000	1	9.900000e-01	1
FNTA	2339	broad.mit.edu	37	8	42919301	42919301	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42919301G>A	ENST00000302279.3	+	3	538	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q|FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha			16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		AGAAGTGAACGAGCTTTTAAG	0.383000																								0							SO:0001583	missense			ENST00000302279.3	1	1	hg19	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519814	0.96416	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88255	0.2919	9	0.87932	D	0	-14.361	15.8992	0.79359	0.0:0.0:1.0:0.0	.	24;115	A8MVX8;P49354	.;FNTA_HUMAN	Q	72;115;97;53	.	ENSP00000303423:R115Q	R	+	2	0	FNTA;RP11-598P20.5	43038458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.536000	0.98067	2.335000	0.79485	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	0	0	1	109	550	0	161	1	1	75	205	0	161	2		0	0	0	0	0	2	1	1	106	542	0	158	2								-3.227509	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FNTA	2339	broad.mit.edu	37	8	42932451	42932451	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42932451C>T	ENST00000302279.3	+	6	920	c.726C>T	c.(724-726)ttC>ttT	p.F242F	FNTA_ENST00000342116.4_Silent_p.F175F|RP11-598P20.5_ENST00000534420.1_Silent_p.F199F|FNTA_ENST00000529687.1_Silent_p.F91F	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha			16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		AAAGATACTTCGTTATTTCTA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000302279.3	1	1	hg19	CCDS6140.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	1	0	1	76	319	0	95	1	1	91	255	0	95	2		0	0	0	0	0	2	1	1	72	318	0	94	2								-20.000000	1	1	121412	5	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FNTA	2339	broad.mit.edu	37	8	42940355	42940355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42940355G>A	ENST00000302279.3	+	9	1264	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	FNTA_ENST00000342116.4_Missense_Mutation_p.R290K|FNTA_ENST00000529687.1_Missense_Mutation_p.R206K	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha			16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		GAATATTGGAGATACATTGGA	0.318000																								0							SO:0001583	missense			ENST00000302279.3	1	1	hg19	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647865	0.29336	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	5.7	0.88788	Protein prenyltransferase (1);	0.232665	0.46442	D	0.000291	T	0.50633	0.1627	L	0.29908	0.895	0.40310	D	0.978701	B;B;B	0.17465	0.022;0.0;0.001	B;B;B	0.13407	0.009;0.001;0.004	T	0.45041	-0.9288	9	0.15499	T	0.54	-12.7797	17.3299	0.87259	0.0:0.0:1.0:0.0	.	290;266;357	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	K	357;290	.	ENSP00000303423:R357K	R	+	2	0	FNTA	43059512	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.917000	0.48821	2.703000	0.92315	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	1	0	1	39	198	0	43	1	1	86	220	0	43	2		0	0	0	0	0	2	1	1	39	192	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
HGSNAT	138050	broad.mit.edu	37	8	43027471	43027471	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43027471G>A	ENST00000458501.2	+	8	846	c.846G>A	c.(844-846)atG>atA	p.M282I	HGSNAT_ENST00000379644.4_Missense_Mutation_p.M254I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase			13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		TTATACTCATGGTCTTTGTCA	0.368000																								0							SO:0001583	missense			ENST00000458501.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.3	4.275747	0.80580	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082	D;D;D	0.95103	-3.61;-3.61;-3.03	5.37	5.37	0.77165	.	0.043313	0.85682	D	0.000000	D	0.97216	0.9090	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97781	1.0232	10	0.87932	D	0	-37.2059	16.7067	0.85374	0.0:0.0:1.0:0.0	.	282	Q68CP4	HGNAT_HUMAN	I	282;254;1	ENSP00000389524:M282I;ENSP00000368965:M254I;ENSP00000430151:M1I	ENSP00000368965:M254I	M	+	3	0	HGSNAT	43146628	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.894000	0.87336	2.533000	0.85409	0.644000	0.83932	ATG		TCGA-IB-7651-01A-11D-2154-08	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	71	395	0	79	1	9.999992e-01	28	86	0	79	2		0	0	0	0	0	2	1	1	70	387	0	79	2								-2.922854	1	1	120822	1	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HGSNAT	138050	broad.mit.edu	37	8	43033296	43033296	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43033296C>T	ENST00000458501.2	+	10	1015	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	HGSNAT_ENST00000297798.7_5'Flank|HGSNAT_ENST00000379644.4_Silent_p.L311L|HGSNAT_ENST00000521576.1_5'Flank			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase			13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		ATTCAGATTGCTGGGGAAGAT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000458501.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	8.619	0.890869	0.17613	.	.	ENSG00000165102	ENST00000524016	.	.	.	5.68	1.82	0.25136	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39482	-0.9612	4	.	.	.	-2.0712	5.6173	0.17438	0.2789:0.57:0.0:0.1511	.	.	.	.	V	12	.	.	A	+	2	0	HGSNAT	43152453	1.000000	0.71417	0.531000	0.27976	0.919000	0.55068	1.133000	0.31430	0.057000	0.16193	-0.142000	0.14014	GCT		TCGA-IB-7651-01A-11D-2154-08	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		0	0	1	128	601	0	155	1	1	15	113	0	155	2		0	0	0	0	0	2	1	1	127	592	0	153	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKDC	5591	broad.mit.edu	37	8	48691355	48691355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691355G>A	ENST00000314191.2	-	83	11638	c.11582C>T	c.(11581-11583)gCt>gTt	p.A3861V	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide			147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)		Caffeine(DB00201)	AGTACGATTAGCGCCCCTATG	0.318000								Non-homologous end-joining					Esophageal Squamous(79;1091 1253 12329 31680 40677)											0							SO:0001583	missense			ENST00000314191.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.83	3.706628	0.68615	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.76186	4.23;-1.0	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.105878	0.64402	D	0.000004	T	0.77438	0.4130	L	0.56396	1.775	0.80722	D	1	P;P	0.42010	0.639;0.768	B;P	0.46172	0.407;0.506	T	0.79137	-0.1927	10	0.54805	T	0.06	.	17.203	0.86911	0.0:0.0:1.0:0.0	.	3830;3862	E7EUY0;P78527	.;PRKDC_HUMAN	V	3861;3830	ENSP00000313420:A3861V;ENSP00000345182:A3830V	ENSP00000313420:A3861V	A	-	2	0	PRKDC	48853908	1.000000	0.71417	0.814000	0.32528	0.199000	0.23934	7.936000	0.87665	2.487000	0.83934	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	10	83	0	21	1	9.999712e-01	48	143	0	21	2		0	0	0	0	0	2	1	9.965576e-01	8	80	0	20	2								-16.501080	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.650000	1.000000	1.000000	0.959846	0.990000	1	9.000000e-01	1
PRKDC	5591	broad.mit.edu	37	8	48691356	48691356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691356C>T	ENST00000314191.2	-	83	11637	c.11581G>A	c.(11581-11583)Gct>Act	p.A3861T	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide			147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)		Caffeine(DB00201)	GTACGATTAGCGCCCCTATGA	0.323000								Non-homologous end-joining					Esophageal Squamous(79;1091 1253 12329 31680 40677)											0							SO:0001583	missense			ENST00000314191.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.1	4.096850	0.76870	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.76186	4.19;-1.0	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.105878	0.64402	D	0.000004	D	0.84795	0.5551	M	0.80746	2.51	0.80722	D	1	D;D	0.65815	0.979;0.995	P;P	0.58391	0.709;0.838	D	0.86556	0.1838	10	0.59425	D	0.04	.	17.203	0.86911	0.0:1.0:0.0:0.0	.	3830;3862	E7EUY0;P78527	.;PRKDC_HUMAN	T	3861;3830	ENSP00000313420:A3861T;ENSP00000345182:A3830T	ENSP00000313420:A3861T	A	-	1	0	PRKDC	48853909	1.000000	0.71417	0.797000	0.32132	0.207000	0.24258	6.278000	0.72614	2.487000	0.83934	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	11	84	0	19	1	9.999908e-01	48	148	0	19	2		0	0	0	0	0	2	1	9.981930e-01	9	81	0	18	2								-7.814108	1	1	120756	4	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.710000	1.000000	1.000000	0.974772	0.990000	1	9.700000e-01	1
PRKDC	5591	broad.mit.edu	37	8	48701608	48701608	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48701608A>G	ENST00000314191.2	-	77	10814	c.10758T>C	c.(10756-10758)gaT>gaC	p.D3586D	PRKDC_ENST00000338368.3_Silent_p.D3586D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide			147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)		Caffeine(DB00201)	CATTGCTCCAATCCTGTCAGG	0.343000								Non-homologous end-joining					Esophageal Squamous(79;1091 1253 12329 31680 40677)											0							SO:0001819	synonymous_variant			ENST00000314191.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	42	187	0	46	1	1	39	84	0	46	2		0	0	0	0	0	2	1	1	41	182	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKDC	5591	broad.mit.edu	37	8	48743248	48743248	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48743248T>C	ENST00000314191.2	-	62	8368	c.8312A>G	c.(8311-8313)tAc>tGc	p.Y2771C	PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide			147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)		Caffeine(DB00201)	GTAGCTTCTGTACAGAACGAC	0.498000								Non-homologous end-joining					Esophageal Squamous(79;1091 1253 12329 31680 40677)											0							SO:0001583	missense			ENST00000314191.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	23.3	4.399114	0.83120	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03553	3.96;3.89	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	T	0.22589	0.0545	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.85	T	0.01405	-1.1363	10	0.87932	D	0	.	15.7828	0.78275	0.0:0.0:0.0:1.0	.	2771;2772	E7EUY0;P78527	.;PRKDC_HUMAN	C	2771	ENSP00000313420:Y2771C;ENSP00000345182:Y2771C	ENSP00000313420:Y2771C	Y	-	2	0	PRKDC	48905801	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.681000	0.84073	2.141000	0.66446	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	49	320	0	62	1	9.999983e-01	32	99	0	62	2		0	0	0	0	0	2	1	1	47	312	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
PRKDC	5591	broad.mit.edu	37	8	48790367	48790367	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48790367A>C	ENST00000314191.2	-	41	5334	c.5278T>G	c.(5278-5280)Ttg>Gtg	p.L1760V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide			147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)		Caffeine(DB00201)	TCTGTCATCAATTCCAACAAC	0.368000								Non-homologous end-joining					Esophageal Squamous(79;1091 1253 12329 31680 40677)											0							SO:0001583	missense			ENST00000314191.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	12.51	1.958535	0.34565	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65549	-0.16;-0.16	5.65	3.28	0.37604	Armadillo-like helical (1);Armadillo-type fold (1);	0.082334	0.50627	D	0.000118	T	0.51312	0.1667	L	0.60455	1.87	0.48288	D	0.999628	P;B	0.35411	0.5;0.36	B;B	0.30029	0.11;0.076	T	0.40136	-0.9579	10	0.30078	T	0.28	.	8.6942	0.34284	0.7639:0.0:0.2361:0.0	.	1760;1761	E7EUY0;P78527	.;PRKDC_HUMAN	V	1760	ENSP00000313420:L1760V;ENSP00000345182:L1760V	ENSP00000313420:L1760V	L	-	1	2	PRKDC	48952920	0.086000	0.21541	0.867000	0.34043	0.885000	0.51271	0.440000	0.21592	0.435000	0.26365	0.477000	0.44152	TTG		TCGA-IB-7651-01A-11D-2154-08	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	73	305	0	76	1	9.999952e-01	24	53	0	76	2		0	0	0	0	0	2	1	1	73	299	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXDNL	137902	broad.mit.edu	37	8	52258438	52258438	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52258438C>A	ENST00000356297.4	-	20	4071	c.3971G>T	c.(3970-3972)aGc>aTc	p.S1324I	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like			48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)			AACAGGATAGCTGTATTGAGC	0.388000																								0							SO:0001583	missense			ENST00000356297.4	1	1	hg19	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.765638|1.765638	0.31228|0.31228	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.67698	.|-0.28	4.53|4.53	-0.773|-0.773	0.10995|0.10995	.|.	.|.	.|.	.|.	.|.	T|T	0.55832|0.55832	0.1945|0.1945	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.48016	.|0.904	.|P	.|0.46543	.|0.52	T|T	0.49000|0.49000	-0.8984|-0.8984	5|9	.|0.51188	.|T	.|0.08	.|.	6.3897|6.3897	0.21579|0.21579	0.0:0.5412:0.1284:0.3304|0.0:0.5412:0.1284:0.3304	.|.	.|1324	.|A1KZ92	.|PXDNL_HUMAN	S|I	398|1324	.|ENSP00000348645:S1324I	.|ENSP00000348645:S1324I	A|S	-|-	1|2	0|0	PXDNL|PXDNL	52420991|52420991	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.259000|-0.259000	0.08721|0.08721	-0.976000|-0.976000	0.03542|0.03542	-0.797000|-0.797000	0.03246|0.03246	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	1	36	198	0	55	0	0	0	1	0	55	2		0	0	0	0	0	2	1	1	35	198	0	55	2								-18.793130	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999971	0.990000	1	9.900000e-01	1
PXDNL	137902	broad.mit.edu	37	8	52321942	52321942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52321942C>T	ENST00000356297.4	-	17	2342	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T	PXDNL_ENST00000543296.1_Missense_Mutation_p.A748T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like			48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)			CGCGCGAAGGCGGTCAGCGCC	0.736000																								0							SO:0001583	missense			ENST00000356297.4	0	1	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745680	0.69418	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69685	-0.42;-0.42	3.71	3.71	0.42584	.	.	.	.	.	T	0.78323	0.4265	M	0.68952	2.095	0.34599	D	0.716333	D	0.76494	0.999	D	0.68765	0.96	D	0.85349	0.1100	9	0.72032	D	0.01	.	13.2908	0.60270	0.0:1.0:0.0:0.0	.	748	A1KZ92	PXDNL_HUMAN	T	748	ENSP00000348645:A748T;ENSP00000444865:A748T	ENSP00000348645:A748T	A	-	1	0	PXDNL	52484495	0.992000	0.36948	0.070000	0.20053	0.020000	0.10135	2.996000	0.49449	1.779000	0.52309	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	0	0	0	27	107	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	1	26	106	0	13	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
PXDNL	137902	broad.mit.edu	37	8	52323862	52323862	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52323862C>T	ENST00000356297.4	-	16	2110	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	PXDNL_ENST00000543296.1_Silent_p.Q670Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like			48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)			CCCGTATCAGCTGCAGCGTGT	0.522000																								0							SO:0001819	synonymous_variant			ENST00000356297.4	1	1	hg19	CCDS47855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	1	10	50	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	9.972608e-01	10	48	0	18	2								-18.987430	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.910000	1.000000	1.000000	0.994449	0.990000	1	9.900000e-01	1
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like			48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)			AAAAGTAATTCGGGGGCTCTC	0.413000																								0							SO:0001583	missense			ENST00000356297.4	1	1	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	PXDNL	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA		TCGA-IB-7651-01A-11D-2154-08	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	1	56	326	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	55	318	0	68	2								-3.223633	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ST18	9705	broad.mit.edu	37	8	53071616	53071616	+	Missense_Mutation	SNP	C	C	T	rs140966554	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53071616C>T	ENST00000276480.7	-	15	2331	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger			85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)			TGGGTGTGGGCGCCTGCACTA	0.483000																								0							SO:0001583	missense			ENST00000276480.7	1	0	hg19	CCDS6149.1	5	0.0022893772893772895	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	C	22.7	4.326388	0.81690	0.003858	0.0	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.50001	0.76;0.76	6.07	6.07	0.98685	Myelin transcription factor 1 (1);	0.282281	0.41294	D	0.000916	T	0.68063	0.2960	M	0.70595	2.14	0.41098	D	0.985641	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	T	0.58999	-0.7536	10	0.13470	T	0.59	-18.3711	20.6439	0.99570	0.0:1.0:0.0:0.0	.	550;550	E5RHS3;O60284	.;ST18_HUMAN	T	550	ENSP00000276480:A550T;ENSP00000428521:A550T	ENSP00000276480:A550T	A	-	1	0	ST18	53234169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.517000	0.53443	2.890000	0.99128	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1	1	0	1	92	469	0	113	0	2.753108e-02	0	2	0	113	2		0	0	0	0	0	2	1	1	91	459	0	112	2								-3.068755	1	1	121412	56	50	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST18	9705	broad.mit.edu	37	8	53074010	53074010	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53074010A>C	ENST00000276480.7	-	14	2202	c.1519T>G	c.(1519-1521)Ttt>Gtt	p.F507V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger			85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)			TGGGCATCAAAACTGGCATAA	0.423000																								0							SO:0001583	missense			ENST00000276480.7	1	1	hg19	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.047112	0.93740	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.56103	0.48;0.48	5.46	5.46	0.80206	Myelin transcription factor 1 (1);	0.047656	0.85682	D	0.000000	T	0.71459	0.3342	M	0.80183	2.485	0.80722	D	1	D;D	0.56968	0.978;0.957	P;P	0.60473	0.875;0.855	T	0.75545	-0.3280	10	0.59425	D	0.04	-7.8199	15.8762	0.79166	1.0:0.0:0.0:0.0	.	507;507	E5RHS3;O60284	.;ST18_HUMAN	V	507	ENSP00000276480:F507V;ENSP00000428521:F507V	ENSP00000276480:F507V	F	-	1	0	ST18	53236563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.199000	0.70637	0.456000	0.33151	TTT		TCGA-IB-7651-01A-11D-2154-08	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1	1	0	1	116	532	0	101	0	1.514043e-01	0	4	0	101	2		0	0	0	0	0	2	1	1	114	520	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RB1CC1	9821	broad.mit.edu	37	8	53573722	53573722	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53573722G>T	ENST00000025008.5	-	10	2001	c.1478C>A	c.(1477-1479)cCt>cAt	p.P493H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1			60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)			GTACATCTGAGGAACTGTACT	0.373000													GBM(180;1701 2102 13475 42023 52570)											0							SO:0001583	missense			ENST00000025008.5	1	1	hg19	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547625	0.65311	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76881	-0.2795	10	0.87932	D	0	-16.9857	19.4663	0.94943	0.0:0.0:1.0:0.0	.	493;493	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	493	ENSP00000025008:P493H;ENSP00000396067:P493H;ENSP00000445960:P493H	ENSP00000025008:P493H	P	-	2	0	RB1CC1	53736275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.781000	0.99029	2.675000	0.91044	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	1	0	1	106	357	0	89	1	1	17	79	0	89	2		0	0	0	0	0	2	1	1	105	350	0	88	2								-4.117734	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RB1CC1	9821	broad.mit.edu	37	8	53574165	53574165	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53574165G>T	ENST00000025008.5	-	9	1811	c.1288C>A	c.(1288-1290)Ctg>Atg	p.L430M	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1			60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)			ATATCTAACAGTTTTCTATGA	0.343000													GBM(180;1701 2102 13475 42023 52570)											0							SO:0001583	missense			ENST00000025008.5	1	1	hg19	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092588	0.76756	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.27104	1.7;1.69;1.69	5.26	4.39	0.52855	.	0.000000	0.64402	D	0.000005	T	0.48822	0.1521	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.52290	-0.8595	10	0.72032	D	0.01	-8.4025	14.0097	0.64488	0.0732:0.0:0.9268:0.0	.	430;430	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	430	ENSP00000025008:L430M;ENSP00000396067:L430M;ENSP00000445960:L430M	ENSP00000025008:L430M	L	-	1	2	RB1CC1	53736718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.853000	0.86934	1.351000	0.45789	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	1	0	1	96	401	0	92	1	9.999930e-01	13	60	0	92	2		0	0	0	0	0	2	1	1	93	397	0	91	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RB1CC1	9821	broad.mit.edu	37	8	53596231	53596231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53596231G>A	ENST00000025008.5	-	5	770	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1			60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)			GCAGGTGGACGATCACATAAG	0.289000													GBM(180;1701 2102 13475 42023 52570)											0							SO:0001583	missense			ENST00000025008.5	1	1	hg19	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065391	0.93898	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710	T;T;T	0.15603	2.41;2.41;2.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.30001	-0.9993	10	0.72032	D	0.01	-5.836	19.3152	0.94208	0.0:0.0:1.0:0.0	.	83;83	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	C	83;83;83;31	ENSP00000025008:R83C;ENSP00000396067:R83C;ENSP00000445960:R83C	ENSP00000025008:R83C	R	-	1	0	RB1CC1	53758784	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.420000	0.97426	2.648000	0.89879	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	1	0	1	37	191	0	33	1	9.990699e-01	9	49	0	33	2		0	0	0	0	0	2	1	1	36	190	0	32	2								-19.746650	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
NPBWR1	2831	broad.mit.edu	37	8	53852661	53852661	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53852661C>T	ENST00000331251.3	+	1	1671	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1			17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)			TTGCTGCGGGCGCCCCGCATG	0.657000																								0							SO:0001583	missense			ENST00000331251.3	1	1	hg19	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778037	0.70107	.	.	ENSG00000183729	ENST00000331251	T	0.72282	-0.64	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.114616	0.37012	N	0.002294	T	0.69869	0.3159	M	0.71581	2.175	0.41409	D	0.987729	P	0.35527	0.507	B	0.34590	0.186	T	0.74435	-0.3666	10	0.66056	D	0.02	.	14.9469	0.71039	0.0:0.8562:0.1438:0.0	.	65	P48145	NPBW1_HUMAN	V	65	ENSP00000330284:A65V	ENSP00000330284:A65V	A	+	2	0	NPBWR1	54015214	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.428000	0.80296	1.197000	0.43143	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	1	0	1	30	167	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	30	166	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999893	0.990000	1	9.900000e-01	1
MRPL15	29088	broad.mit.edu	37	8	55055274	55055274	+	Missense_Mutation	SNP	G	G	A	rs140295154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055274G>A	ENST00000260102.4	+	4	555	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15			10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		GTTGGCTTCAGAACTAGCTAT	0.393000																								0							SO:0001583	missense			ENST00000260102.4	1	1	hg19	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119001	0.94385	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	5.33	0.75918	Ribosomal protein L18e/L15P (2);	0.043652	0.85682	D	0.000000	T	0.40546	0.1121	N	0.03029	-0.43	0.80722	D	1	P	0.41159	0.74	P	0.50440	0.641	T	0.45527	-0.9255	9	0.30854	T	0.27	-28.0007	14.957	0.71124	0.0:0.1423:0.8577:0.0	.	161	Q9P015	RM15_HUMAN	K	161	.	ENSP00000260102:E161K	E	+	1	0	MRPL15	55217827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.742000	0.85008	2.652000	0.90054	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	1	0	1	63	274	0	59	1	1	67	178	0	59	2		0	0	0	0	0	2	1	1	63	268	0	59	2								-20.000000	1	0	121412	10	43	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL15	29088	broad.mit.edu	37	8	55055322	55055322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055322G>T	ENST00000260102.4	+	4	603	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15			10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		TGTTACTACAGCCTTCTATGA	0.383000																								0							SO:0001583	missense			ENST00000260102.4	1	1	hg19	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353741	0.41700	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	4.39	0.52855	Ribosomal protein L18e/L15P (1);	0.186728	0.56097	D	0.000030	T	0.45677	0.1354	N	0.20807	0.61	0.38242	D	0.941351	B	0.27450	0.179	B	0.34931	0.192	T	0.45600	-0.9250	9	0.28530	T	0.3	-27.9279	14.5839	0.68310	0.0:0.0:0.7817:0.2183	.	177	Q9P015	RM15_HUMAN	S	177	.	ENSP00000260102:A177S	A	+	1	0	MRPL15	55217875	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.928000	0.48908	2.652000	0.90054	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	1	0	1	75	339	0	89	1	1	111	227	0	89	2		0	0	0	0	0	2	1	1	75	334	0	88	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL15	29088	broad.mit.edu	37	8	55060128	55060128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55060128T>C	ENST00000260102.4	+	5	814	c.740T>C	c.(739-741)aTc>aCc	p.I247T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15			10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		TTACCTGATATCACTAAAGAT	0.453000																								0							SO:0001583	missense			ENST00000260102.4	1	1	hg19	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.216259	0.58452	.	.	ENSG00000137547	ENST00000260102	T	0.65916	-0.18	5.33	5.33	0.75918	.	0.042804	0.85682	D	0.000000	T	0.64681	0.2620	M	0.76002	2.32	0.80722	D	1	B	0.20164	0.042	B	0.20184	0.028	T	0.65393	-0.6179	10	0.72032	D	0.01	-17.4903	15.3195	0.74109	0.0:0.0:0.0:1.0	.	247	Q9P015	RM15_HUMAN	T	247	ENSP00000260102:I247T	ENSP00000260102:I247T	I	+	2	0	MRPL15	55222681	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	5.872000	0.69636	2.011000	0.59026	0.528000	0.53228	ATC		TCGA-IB-7651-01A-11D-2154-08	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	0	0	0	15	355	0	67	1	9.998412e-01	34	322	0	67	2		0	0	0	0	0	2	1	9.998684e-01	15	351	0	67	2								-4.334668	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.470000	0.270000	0.730000	0.470000	0.492896	0.470000	0	3.600000e-01	6.100000e-01
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	p.A135A(1)		169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		CCATTAGCGCGCACTCACCGC	0.692000													Colon(91;1014 1389 7634 14542 40420)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000220676.1	1	1	hg19	CCDS6160.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	0	111	472	0	76	0	0	1	0	0	76	2		0	0	0	0	0	2	1	1	110	463	0	74	2								-20.000000	1	1	121012	1	24	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RP1	6101	broad.mit.edu	37	8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55537454C>T	ENST00000220676.1	+	4	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)			169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		GATGAAAGTTCGATTCAGAAT	0.328000													Colon(91;1014 1389 7634 14542 40420)											0							SO:0001587	stop_gained			ENST00000220676.1	0	1	hg19	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	37	6.509009	0.97624	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.08	4.19	0.49359	.	0.148426	0.31577	N	0.007406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8105	0.69992	0.1453:0.8547:0.0:0.0	.	.	.	.	X	338	.	ENSP00000220676:R338X	R	+	1	2	RP1	55700007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.954000	0.63631	1.111000	0.41721	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	1	40	179	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1	39	173	0	62	2								-3.462303	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RP1	6101	broad.mit.edu	37	8	55539291	55539291	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55539291A>C	ENST00000220676.1	+	4	2997	c.2849A>C	c.(2848-2850)aAt>aCt	p.N950T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)			169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		TGTAGCAATAATAGTTTTTCA	0.333000													Colon(91;1014 1389 7634 14542 40420)											0							SO:0001583	missense			ENST00000220676.1	1	1	hg19	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	7.822	0.718019	0.15372	.	.	ENSG00000104237	ENST00000220676	T	0.49432	0.78	5.67	-7.84	0.01196	.	1.146690	0.06426	N	0.723180	T	0.34221	0.0890	L	0.43152	1.355	0.09310	N	1	B	0.30763	0.294	B	0.27887	0.084	T	0.47983	-0.9074	10	0.72032	D	0.01	.	9.5623	0.39378	0.1535:0.1029:0.642:0.1016	.	950	P56715	RP1_HUMAN	T	950	ENSP00000220676:N950T	ENSP00000220676:N950T	N	+	2	0	RP1	55701844	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.341000	0.02647	-0.777000	0.04572	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	1	44	261	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	43	255	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999977	0.990000	1	9.900000e-01	1
RP1	6101	broad.mit.edu	37	8	55540824	55540824	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55540824A>C	ENST00000220676.1	+	4	4530	c.4382A>C	c.(4381-4383)aAc>aCc	p.N1461T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)			169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		AGTGAAAGAAACATTTCAGAA	0.363000													Colon(91;1014 1389 7634 14542 40420)											0							SO:0001583	missense			ENST00000220676.1	1	1	hg19	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702442	0.30232	.	.	ENSG00000104237	ENST00000220676	T	0.65364	-0.15	5.48	0.271	0.15640	.	0.461357	0.19939	N	0.102690	T	0.53562	0.1804	M	0.68952	2.095	0.09310	N	1	P	0.39282	0.666	B	0.37508	0.252	T	0.50372	-0.8836	10	0.87932	D	0	-2.9732	5.6249	0.17477	0.5776:0.1383:0.2841:0.0	.	1461	P56715	RP1_HUMAN	T	1461	ENSP00000220676:N1461T	ENSP00000220676:N1461T	N	+	2	0	RP1	55703377	0.000000	0.05858	0.021000	0.16686	0.634000	0.38068	-0.722000	0.04958	-0.176000	0.10707	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	1	73	263	0	58	0	4.843693e-02	0	2	0	58	2		0	0	0	0	0	2	1	1	73	261	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHCHD7	79145	broad.mit.edu	37	8	57129954	57129954	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57129954G>A	ENST00000355315.3	+	4	317	c.218G>A	c.(217-219)aGa>aAa	p.R73K	CHCHD7_ENST00000523061.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000519367.1_3'UTR|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K|CHCHD7_ENST00000523975.1_Missense_Mutation_p.R85K|CHCHD7_ENST00000518801.1_3'UTR	NM_001011670.1|NM_001011671.1	NP_001011670.1|NP_001011671.1	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7		CHCHD7/PLAG1(12)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)		GCAGCAGAAAGAGATGAAATC	0.343000			T	PLAG1	salivary adenoma										Dom	yes		8	8q11.2	79145	coiled-coil-helix-coiled-coil-helix domain containing 7		E	0							SO:0001583	missense			ENST00000355315.3	1	1	hg19	CCDS34896.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549267	0.96488	.	.	ENSG00000170791	ENST00000355315;ENST00000303759;ENST00000523975;ENST00000396723	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	.	.	.	0.53688	D	0.999979	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.48055	-0.9068	9	0.66056	D	0.02	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	73;85	Q9BUK0;Q9BUK0-2	CHCH7_HUMAN;.	K	73;98;85;82	ENSP00000347469:R73K;ENSP00000306425:R98K;ENSP00000428917:R85K;ENSP00000379949:R82K	ENSP00000306425:R98K	R	+	2	0	CHCHD7	57292508	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.393000	0.79851	2.857000	0.98124	0.650000	0.86243	AGA		TCGA-IB-7651-01A-11D-2154-08	CHCHD7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378218.1	1	0	1	56	252	0	44	1	1	86	168	0	44	2		0	0	0	0	0	2	1	1	54	247	0	43	2								-20.000000	1	1	121412	2	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDR16C5	195814	broad.mit.edu	37	8	57221490	57221490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57221490C>T	ENST00000303749.3	-	4	1199	c.562G>A	c.(562-564)Gca>Aca	p.A188T	SDR16C5_ENST00000522671.1_Missense_Mutation_p.A188T|SDR16C5_ENST00000396721.2_Missense_Mutation_p.A144T	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5			16					TTCTTACCTGCCAGCCCATTT	0.358000																								0							SO:0001583	missense			ENST00000303749.3	1	1	hg19	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015572	0.19355	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.90444	-2.67;-2.45;-2.45	5.79	3.76	0.43208	NAD(P)-binding domain (1);	0.168725	0.49916	D	0.000130	D	0.82582	0.5068	N	0.13168	0.305	0.53688	D	0.999973	B;B;B	0.27068	0.049;0.167;0.133	B;B;B	0.30943	0.074;0.053;0.122	T	0.77156	-0.2691	10	0.14252	T	0.57	.	16.4053	0.83662	0.3315:0.6685:0.0:0.0	.	144;188;188	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	T	144;188;188;188	ENSP00000379947:A144T;ENSP00000307607:A188T;ENSP00000431010:A188T	ENSP00000307607:A188T	A	-	1	0	SDR16C5	57384044	0.988000	0.35896	0.923000	0.36655	0.134000	0.20937	2.656000	0.46716	1.387000	0.46486	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	1	0	1	25	176	0	61	1	9.999988e-01	73	91	0	61	2		0	0	0	0	0	2	1	9.999999e-01	25	172	0	61	2								-3.223184	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.960000	1.000000	1.000000	0.997200	0.990000	1	9.900000e-01	1
SDR16C5	195814	broad.mit.edu	37	8	57228591	57228591	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57228591A>C	ENST00000303749.3	-	2	953	c.316T>G	c.(316-318)Tat>Gat	p.Y106D	SDR16C5_ENST00000522671.1_Missense_Mutation_p.Y106D|SDR16C5_ENST00000396721.2_Missense_Mutation_p.Y106D	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5			16					GCTACTCTATACACTCCTTCC	0.453000																								0							SO:0001583	missense			ENST00000303749.3	1	1	hg19	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174254	0.57692	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.86627	-2.15;-2.15;-2.15	5.14	5.14	0.70334	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	N	0.04116	-0.275	0.80722	D	1	P;D;D	0.89917	0.86;1.0;1.0	P;D;D	0.97110	0.535;0.995;1.0	D	0.89344	0.3656	10	0.62326	D	0.03	.	14.9552	0.71107	1.0:0.0:0.0:0.0	.	106;106;106	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	D	106	ENSP00000379947:Y106D;ENSP00000307607:Y106D;ENSP00000431010:Y106D	ENSP00000307607:Y106D	Y	-	1	0	SDR16C5	57391145	1.000000	0.71417	0.042000	0.18584	0.429000	0.31625	8.928000	0.92853	1.950000	0.56595	0.460000	0.39030	TAT		TCGA-IB-7651-01A-11D-2154-08	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	1	0	1	122	500	0	118	1	1	69	77	0	118	2		0	0	0	0	0	2	1	1	118	493	0	118	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PENK	5179	broad.mit.edu	37	8	57354416	57354416	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57354416T>G	ENST00000314922.3	-	2	295	c.219A>C	c.(217-219)aaA>aaC	p.K73N	PENK_ENST00000451791.2_Missense_Mutation_p.K73N|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin			21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)		GAAGCTCTGGTTTGGACAGCT	0.468000																								0							SO:0001583	missense			ENST00000314922.3	1	1	hg19	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653120	0.29425	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791;ENST00000518974	T;T;T	0.74737	-0.87;-0.87;0.86	5.94	-9.73	0.00512	.	0.438594	0.27627	N	0.018537	T	0.46367	0.1389	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.11179	-1.0598	10	0.46703	T	0.11	-6.257	13.5097	0.61504	0.076:0.6291:0.0:0.2949	.	73	P01210	PENK_HUMAN	N	73	ENSP00000324248:K73N;ENSP00000400894:K73N;ENSP00000428012:K73N	ENSP00000324248:K73N	K	-	3	2	PENK	57516970	0.025000	0.19082	0.000000	0.03702	0.735000	0.41995	-0.852000	0.04308	-2.039000	0.00917	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1	1	0	1	123	509	0	149	0	0	0	1	0	149	2		0	0	0	0	0	2	1	1	119	499	0	149	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM110B	90362	broad.mit.edu	37	8	59059135	59059135	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59059135C>T	ENST00000361488.3	+	5	1226	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	p.L116M(1)		26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)			GAGGGAGAACCTGAAGCTGGA	0.662000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000361488.3	1	1	hg19	CCDS6170.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	1	0	1	34	174	0	47	0	7.538228e-02	0	3	0	47	2		0	0	0	0	0	2	1	1	33	173	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
UBXN2B	137886	broad.mit.edu	37	8	59360082	59360082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59360082A>G	ENST00000399598.2	+	8	1090	c.968A>G	c.(967-969)aAc>aGc	p.N323S		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B			13					GATATTCTTAACACTGTGTTA	0.393000																								0							SO:0001583	missense			ENST00000399598.2	1	1	hg19	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812865	0.90707	.	.	ENSG00000215114	ENST00000399598	T	0.48522	0.81	6.08	6.08	0.98989	UBX (3);	0.000000	0.48767	U	0.000180	T	0.68458	0.3003	M	0.76574	2.34	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	T	0.70757	-0.4785	10	0.56958	D	0.05	-24.3636	15.2149	0.73258	1.0:0.0:0.0:0.0	.	323	Q14CS0	UBX2B_HUMAN	S	323	ENSP00000382507:N323S	ENSP00000382507:N323S	N	+	2	0	UBXN2B	59522636	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.304000	0.89958	2.333000	0.79357	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	1	0	1	54	247	0	52	1	9.964596e-01	13	29	0	52	2		0	0	0	0	0	2	1	1	54	244	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP7A1	1581	broad.mit.edu	37	8	59404294	59404294	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59404294T>C	ENST00000301645.3	-	6	1392	c.1255A>G	c.(1255-1257)Aca>Gca	p.T419A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1			34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)			GTAGTCTTTGTCTTCCCGTTT	0.343000									Neonatal Giant Cell Hepatitis															0							SO:0001583	missense	Familial Cancer Database	Neonatal Hemochromatosis	ENST00000301645.3	1	1	hg19	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783800	0.31593	.	.	ENSG00000167910	ENST00000301645	T	0.60040	0.22	5.76	-1.34	0.09143	.	0.298471	0.40469	N	0.001089	T	0.27866	0.0686	N	0.11201	0.11	0.26376	N	0.976803	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.12430	T	0.62	-3.4054	6.8926	0.24238	0.0:0.4527:0.2615:0.2858	.	419	P22680	CP7A1_HUMAN	A	419	ENSP00000301645:T419A	ENSP00000301645:T419A	T	-	1	0	CYP7A1	59566848	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	2.557000	0.45871	-0.052000	0.13311	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	1	0	1	126	502	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1	124	498	0	113	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NSMAF	8439	broad.mit.edu	37	8	59512420	59512420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59512420C>A	ENST00000038176.3	-	18	1554	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*|NSMAF_ENST00000519858.1_5'Flank	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor			38		all_lung(136;0.174)|Lung NSC(129;0.2)			CCATAGAATTCTGGAATTAAC	0.398000																								0							SO:0001587	stop_gained			ENST00000038176.3	0	1	hg19	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373231	0.98781	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	448;479	.	.	E	-	1	0	NSMAF	59674974	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	1	0	1	50	280	0	57	0	9.989370e-01	0	60	0	57	2		0	0	0	0	0	2	1	1	48	273	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
TOX	9760	broad.mit.edu	37	8	59739462	59739462	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59739462C>A	ENST00000361421.1	-	6	1145		c.e6-1			NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box			33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)			TTTTATAGACCTGCAACAACA	0.403000													Pancreas(161;610 1969 17913 21374 22725)											0							SO:0001630	splice_region_variant			ENST00000361421.1	0	1	hg19	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027275	0.93518	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOX	59902016	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.794000	0.85869	2.751000	0.94390	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	0	0	0	6	140	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	9.620844e-01	6	135	0	34	2								-8.680343	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.500000	0.210000	0.930000	0.460000	0.528101	0.500000	0	3.300000e-01	7.100000e-01
RAB2A	5862	broad.mit.edu	37	8	61496780	61496780	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61496780C>T	ENST00000262646.7	+	4	551	c.200C>T	c.(199-201)tCc>tTc	p.S67F	RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F|RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family			6			BRCA - Breast invasive adenocarcinoma(89;0.0805)		GGGCAAGAATCCTTTCGTTCC	0.378000																								0							SO:0001583	missense			ENST00000262646.7	1	1	hg19	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170618	0.94807	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	T;T;T	0.77620	-1.11;-1.11;-1.11	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.048123	0.85682	D	0.000000	D	0.88351	0.6413	M	0.76002	2.32	0.80722	D	1	D;D	0.57899	0.979;0.981	P;D	0.67548	0.9;0.952	D	0.88331	0.2968	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	43;67	B4DMQ5;P61019	.;RAB2A_HUMAN	F	67;43;67;21	ENSP00000262646:S67F;ENSP00000431846:S43F;ENSP00000431589:S67F	ENSP00000262646:S67F	S	+	2	0	RAB2A	61659334	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	TCC		TCGA-IB-7651-01A-11D-2154-08	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2	1	0	1	98	510	0	132	1	1	195	479	0	132	2		0	0	0	0	0	2	1	1	97	495	0	128	2								-3.322253	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CHD7	55636	broad.mit.edu	37	8	61729060	61729060	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61729060G>A	ENST00000423902.2	+	8	3092	c.2613G>A	c.(2611-2613)gaG>gaA	p.E871E	CHD7_ENST00000525508.1_Splice_Site_p.E871E|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	p.556_871dup(1)		123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)		TCCTTTCAGAGGTACGACATA	0.323000																								1	Insertion - In frame(1)						SO:0001630	splice_region_variant			ENST00000423902.2	0	1	hg19	CCDS47865.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	0	0	0	11	60	0	9	0	1.960447e-01	1	4	0	9	2		0	0	0	0	0	2	1	9.987863e-01	11	60	0	9	2								-19.665260	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.900000	1.000000	1.000000	0.994107	0.990000	1	9.900000e-01	1
CHD7	55636	broad.mit.edu	37	8	61734637	61734637	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61734637A>C	ENST00000423902.2	+	11	3369	c.2890A>C	c.(2890-2892)Aac>Cac	p.N964H	CHD7_ENST00000525508.1_Missense_Mutation_p.N964H|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7			123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)		GGAGTATAAAAACAATAACAA	0.378000																								0							SO:0001583	missense			ENST00000423902.2	1	1	hg19	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671091	0.88348	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93366	-3.21;-3.21	5.52	5.52	0.82312	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.70595	2.14	0.80722	D	1	P;B	0.40050	0.7;0.103	P;B	0.48627	0.584;0.094	D	0.95226	0.8338	10	0.87932	D	0	-24.6046	15.9347	0.79694	1.0:0.0:0.0:0.0	.	964;964	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	H	964	ENSP00000392028:N964H;ENSP00000436027:N964H	ENSP00000307304:N964H	N	+	1	0	CHD7	61897191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.221000	0.72209	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	1	0	0	21	201	0	52	1	2.951422e-01	3	8	0	52	2		0	0	0	0	0	2	1	9.999977e-01	20	197	0	52	2								-9.199869	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.700000	1.000000	1.000000	0.959100	0.990000	1	8.800000e-01	1
CHD7	55636	broad.mit.edu	37	8	61748784	61748784	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61748784A>G	ENST00000423902.2	+	16	4410	c.3931A>G	c.(3931-3933)Atc>Gtc	p.I1311V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7			123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)		CAGGGTGCTTATCTTTTCCCA	0.473000																								0							SO:0001583	missense			ENST00000423902.2	1	1	hg19	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699147	0.48307	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75154	-0.91	5.8	5.8	0.92144	Helicase, C-terminal (1);	0.066717	0.64402	D	0.000007	T	0.66867	0.2833	L	0.35593	1.075	0.58432	D	0.999999	B	0.32425	0.371	B	0.32393	0.145	T	0.68372	-0.5426	10	0.59425	D	0.04	-16.4397	16.1549	0.81657	1.0:0.0:0.0:0.0	.	1311	Q9P2D1	CHD7_HUMAN	V	1311	ENSP00000392028:I1311V	ENSP00000307304:I1311V	I	+	1	0	CHD7	61911338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.625000	0.54238	2.209000	0.71365	0.533000	0.62120	ATC		TCGA-IB-7651-01A-11D-2154-08	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	1	0	1	24	122	0	46	0	4.004560e-01	1	7	0	46	2		0	0	0	0	0	2	1	9.999998e-01	24	121	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999843	0.990000	1	9.900000e-01	1
CHD7	55636	broad.mit.edu	37	8	61750324	61750324	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61750324C>A	ENST00000423902.2	+	18	4762	c.4283C>A	c.(4282-4284)gCt>gAt	p.A1428D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7			123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)		TTCGACAAGGCTAGTTTGAAA	0.423000																								0							SO:0001583	missense			ENST00000423902.2	1	1	hg19	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307885	0.95629	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.77358	-1.09	5.83	5.83	0.93111	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.96489	3.83	0.80722	D	1	D	0.56035	0.974	D	0.74348	0.983	D	0.94000	0.7274	10	0.87932	D	0	-15.5774	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1428	Q9P2D1	CHD7_HUMAN	D	1428	ENSP00000392028:A1428D	ENSP00000307304:A1428D	A	+	2	0	CHD7	61912878	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	1	0	1	21	92	0	25	0	4.666029e-01	1	7	0	25	2		0	0	0	0	0	2	1	9.999983e-01	19	90	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999892	0.990000	1	9.900000e-01	1
CHD7	55636	broad.mit.edu	37	8	61768711	61768711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61768711G>T	ENST00000423902.2	+	33	7593	c.7114G>T	c.(7114-7116)Gcc>Tcc	p.A2372S	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7			123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)		GGTCGGCCAAGCCAGCATTAG	0.512000																								0							SO:0001583	missense			ENST00000423902.2	1	1	hg19	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318603	0.23994	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.45668	0.89	5.94	4.13	0.48395	.	0.071226	0.56097	D	0.000031	T	0.26412	0.0645	N	0.20685	0.6	0.34300	D	0.68418	B	0.16603	0.018	B	0.16722	0.016	T	0.25882	-1.0119	10	0.15066	T	0.55	-5.4239	11.7828	0.52023	0.0662:0.1237:0.8102:0.0	.	2372	Q9P2D1	CHD7_HUMAN	S	2372	ENSP00000392028:A2372S	ENSP00000307304:A2372S	A	+	1	0	CHD7	61931265	1.000000	0.71417	0.301000	0.25044	0.853000	0.48598	4.289000	0.59013	0.825000	0.34637	0.563000	0.77884	GCC		TCGA-IB-7651-01A-11D-2154-08	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	1	0	1	16	48	0	14	1	8.869138e-01	4	10	0	14	2		0	0	0	0	0	2	1	9.999677e-01	16	47	0	14	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999914	0.990000	1	9.900000e-01	1
CHD7	55636	broad.mit.edu	37	8	61777910	61777910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61777910G>A	ENST00000423902.2	+	38	8891	c.8412G>A	c.(8410-8412)gcG>gcA	p.A2804A	CHD7_ENST00000524602.1_Silent_p.A755A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7			123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)		CAGGAATGGCGGGCCTGCCCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000423902.2	0	1	hg19	CCDS47865.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	0	0	0	4	102	0	34	0	2.390930e-01	0	20	0	34	2		0	0	0	0	0	2	1	8.639944e-01	4	91	0	29	2								-7.014462	1	1	120848	17	41	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.470000	0.160000	0.970000	1.000000	0.507876	0.470000	0	2.900000e-01	7.200000e-01
CLVS1	157807	broad.mit.edu	37	8	62212434	62212434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62212434G>T	ENST00000519846.1	+	3	520	c.48G>T	c.(46-48)tgG>tgT	p.W16C	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1			41					TAAACACTTGGAACGGAGATT	0.453000																								0							SO:0001583	missense			ENST00000519846.1	1	1	hg19	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171922	0.21704	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.79247	-1.25;-1.25	5.79	1.84	0.25277	.	0.842461	0.10876	N	0.624284	T	0.67163	0.2864	L	0.29908	0.895	0.58432	D	0.999995	P;P;P	0.50156	0.844;0.9;0.932	B;B;B	0.43783	0.22;0.431;0.321	T	0.60586	-0.7234	10	0.35671	T	0.21	4.8743	9.1951	0.37224	0.1096:0.2314:0.659:0.0	.	16;16;16	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	C	16	ENSP00000428402:W16C;ENSP00000325506:W16C	ENSP00000325506:W16C	W	+	3	0	CLVS1	62374988	1.000000	0.71417	0.293000	0.24932	0.595000	0.36748	3.253000	0.51469	0.741000	0.32674	-0.176000	0.13171	TGG		TCGA-IB-7651-01A-11D-2154-08	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	1	0	1	40	183	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	40	179	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ERICH1	157697	broad.mit.edu	37	8	623643	623643	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623643C>T	ENST00000262109.7	-	4	786	c.709G>A	c.(709-711)Gct>Act	p.A237T	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1			20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)			TCCTCGCTAGCGTCCGCACCA	0.617000																								0							SO:0001583	missense			ENST00000262109.7	1	1	hg19	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.934118	0.02340	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.35973	1.28;1.4	1.47	-2.93	0.05598	.	.	.	.	.	T	0.13543	0.0328	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25537	-1.0129	9	0.13470	T	0.59	.	0.6768	0.00868	0.1732:0.2483:0.172:0.4065	.	237;237;143	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	T	237;143;237	ENSP00000428635:A143T;ENSP00000262109:A237T	ENSP00000262109:A237T	A	-	1	0	ERICH1	613643	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.912000	0.01582	-1.447000	0.01943	-3.692000	0.00024	GCT		TCGA-IB-7651-01A-11D-2154-08	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	1	0	1	169	681	0	152	1	1	28	77	0	152	2		0	0	0	0	0	2	1	1	163	662	0	152	2								-20.000000	1	1	121412	1	38	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERICH1	157697	broad.mit.edu	37	8	623821	623821	+	Silent	SNP	G	G	T	rs61743225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623821G>T	ENST00000262109.7	-	4	608	c.531C>A	c.(529-531)gcC>gcA	p.A177A	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Silent_p.A83A	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1			20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)			CTGCCAAGCCGGCTGCTTTCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000262109.7	1	1	hg19	CCDS5955.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	0	0	0	18	502	0	95	0	6.127579e-01	1	57	0	95	2		0	0	0	0	0	2	1	9.999791e-01	18	493	0	95	2								-2.853617	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.420000	0.250000	1.000000	0.410000	0.458817	0.420000	0	3.200000e-01	5.500000e-01
ASPH	444	broad.mit.edu	37	8	62460657	62460657	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62460657T>G	ENST00000379454.4	-	21	1924	c.1737A>C	c.(1735-1737)aaA>aaC	p.K579N	ASPH_ENST00000541428.1_Missense_Mutation_p.K550N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase			35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)		L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGCCCGTTTCTTTTGGGGTCC	0.433000																								0							SO:0001583	missense			ENST00000379454.4	1	1	hg19	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799417	0.50208	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.33654	1.41;1.4	5.69	-7.0	0.01599	.	0.258295	0.43416	D	0.000564	T	0.23727	0.0574	L	0.50333	1.59	0.58432	D	0.999997	B;P	0.48694	0.11;0.914	B;B	0.38296	0.066;0.27	T	0.34304	-0.9834	10	0.59425	D	0.04	-11.8603	11.6338	0.51192	0.093:0.6261:0.0:0.2809	.	550;579	F5H667;Q12797	.;ASPH_HUMAN	N	550;579	ENSP00000437864:K550N;ENSP00000368767:K579N	ENSP00000368767:K579N	K	-	3	2	ASPH	62623211	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-1.637000	0.02015	-1.314000	0.02300	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	1	0	1	141	583	0	97	1	1	65	195	0	97	2		0	0	0	0	0	2	1	1	140	573	0	97	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPH	444	broad.mit.edu	37	8	62465611	62465611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62465611C>T	ENST00000379454.4	-	20	1792	c.1605G>A	c.(1603-1605)atG>atA	p.M535I	ASPH_ENST00000541428.1_Missense_Mutation_p.M506I	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase			35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)		L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAACCCTCTGCATGGCATCCC	0.413000																								0							SO:0001583	missense			ENST00000379454.4	1	1	hg19	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345436	0.61073	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.29917	1.56;1.55	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.122777	0.56097	D	0.000023	T	0.21550	0.0519	N	0.14661	0.345	0.80722	D	1	B;B	0.29988	0.264;0.172	B;B	0.29785	0.107;0.05	T	0.05835	-1.0861	10	0.54805	T	0.06	-21.9674	15.0308	0.71705	0.0:0.9303:0.0:0.0697	.	506;535	F5H667;Q12797	.;ASPH_HUMAN	I	506;535	ENSP00000437864:M506I;ENSP00000368767:M535I	ENSP00000368767:M535I	M	-	3	0	ASPH	62628165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.560000	0.53763	2.700000	0.92200	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	0	0	1	242	1121	1	298	1	1	50	202	1	298	5		0	0	0	0	0	2	1	1	237	1096	1	293	17								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MCPH1	79648	broad.mit.edu	37	8	6302292	6302292	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6302292G>T	ENST00000344683.5	+	8	1125	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M|MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1		AGPAT5/MCPH1(2)	6		Hepatocellular(245;0.0663)			TCAAGACCCAGGAGTTCCTCA	0.453000													Colon(95;1448 1467 8277 34473 35819)											0							SO:0001583	missense			ENST00000344683.5	1	1	hg19	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789857	0.31685	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10005	2.92;2.92;2.92	5.29	-10.6	0.00265	.	1.665360	0.02325	N	0.073407	T	0.08403	0.0209	L	0.28274	0.84	0.09310	N	1	P;B;P	0.36599	0.56;0.075;0.56	B;B;B	0.44315	0.446;0.091;0.446	T	0.19257	-1.0311	10	0.27785	T	0.31	-0.9165	5.3618	0.16091	0.1852:0.0909:0.5436:0.1803	.	302;350;350	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	M	350;350;302	ENSP00000342924:R350M;ENSP00000430962:R350M;ENSP00000430768:R302M	ENSP00000342924:R350M	R	+	2	0	MCPH1	6289700	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.526000	0.02229	-2.319000	0.00643	-0.961000	0.02630	AGG		TCGA-IB-7651-01A-11D-2154-08	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	1	0	1	30	183	0	40	1	9.688415e-01	9	28	0	40	2		0	0	0	0	0	2	1	1	29	181	0	40	2								-20.000000	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999813	0.990000	1	9.900000e-01	1
NKAIN3	286183	broad.mit.edu	37	8	63659620	63659620	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63659620G>A	ENST00000523211.1	+	4	535	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3			13	Breast(64;0.127)	Lung NSC(129;0.187)			GTACGTCTCTGTCACAGGCTG	0.493000																								0							SO:0001583	missense			ENST00000523211.1	1	1	hg19	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309719	0.60414	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.15256	2.44;2.44	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.20618	0.0496	L	0.55103	1.725	0.44395	D	0.997307	P	0.39443	0.674	B	0.36418	0.224	T	0.01390	-1.1367	10	0.46703	T	0.11	-20.8503	18.3654	0.90389	0.0:0.0:1.0:0.0	.	135	Q8N8D7	NKAI3_HUMAN	I	135	ENSP00000429073:V135I;ENSP00000333627:V135I	ENSP00000333627:V135I	V	+	1	0	NKAIN3	63822174	1.000000	0.71417	0.954000	0.39281	0.744000	0.42396	6.307000	0.72815	2.583000	0.87209	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	1	0	1	26	131	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1	26	131	0	36	2								-15.799030	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999910	0.990000	1	9.900000e-01	1
GGH	8836	broad.mit.edu	37	8	63927900	63927900	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63927900T>C	ENST00000260118.6	-	9	1350	c.948A>G	c.(946-948)atA>atG	p.I316M	RP11-659E9.2_ENST00000524309.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)			11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)		Folic Acid(DB00158)|Methotrexate(DB00563)	TTCAATCAAATATGTAACATT	0.299000																								0							SO:0001583	missense			ENST00000260118.6	1	1	hg19	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043502	0.36085	.	.	ENSG00000137563	ENST00000260118	T	0.44881	0.91	5.74	-6.28	0.02020	.	0.447666	0.28093	N	0.016622	T	0.17152	0.0412	N	0.25031	0.7	0.27732	N	0.944785	B	0.22276	0.067	B	0.20184	0.028	T	0.03795	-1.1003	10	0.35671	T	0.21	-16.6356	1.2416	0.01964	0.3572:0.2029:0.3014:0.1386	.	316	Q92820	GGH_HUMAN	M	316	ENSP00000260118:I316M	ENSP00000260118:I316M	I	-	3	3	GGH	64090454	0.986000	0.35501	0.811000	0.32455	0.959000	0.62525	0.101000	0.15251	-0.758000	0.04690	0.528000	0.53228	ATA		TCGA-IB-7651-01A-11D-2154-08	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1	1	0	1	12	66	0	31	1	9.981311e-01	16	49	0	31	2		0	0	0	0	0	2	1	9.993746e-01	12	66	0	31	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.920000	1.000000	1.000000	0.995252	0.990000	1	9.900000e-01	1
BHLHE22	27319	broad.mit.edu	37	8	65494072	65494072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:65494072C>T	ENST00000321870.1	+	1	1259	c.725C>T	c.(724-726)gCg>gTg	p.A242V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22			5					GAGCAAAAGGCGCTGCGGCTT	0.672000													Colon(113;104 1586 2865 9855 18065)											0							SO:0001583	missense			ENST00000321870.1	0	1	hg19	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965507	0.18583	.	.	ENSG00000180828	ENST00000321870	T	0.80304	-1.36	4.02	3.13	0.36017	Helix-loop-helix DNA-binding (2);	0.803881	0.10963	U	0.614705	T	0.66470	0.2792	N	0.17631	0.505	0.28152	N	0.929339	P	0.41041	0.736	B	0.32928	0.155	T	0.56679	-0.7939	10	0.46703	T	0.11	0.9187	13.2565	0.60081	0.0:0.8386:0.1614:0.0	.	242	Q8NFJ8	BHE22_HUMAN	V	242	ENSP00000318799:A242V	ENSP00000318799:A242V	A	+	2	0	BHLHE22	65656626	0.950000	0.32346	1.000000	0.80357	0.399000	0.30720	1.823000	0.39062	0.851000	0.35264	-0.502000	0.04539	GCG		TCGA-IB-7651-01A-11D-2154-08	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	1	0	0	9	87	0	16	0	1.133787e-02	0	2	0	16	2		0	0	0	0	0	2	1	9.949614e-01	9	87	0	15	2								-15.111670	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.550000	1.000000	1.000000	0.923415	0.990000	1	7.800000e-01	1
ARMC1	55156	broad.mit.edu	37	8	66539594	66539594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66539594C>T	ENST00000276569.3	-	2	284	c.40G>A	c.(40-42)Gct>Act	p.A14T	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1			14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		ACCGATAGAGCGTCAGGCTCT	0.423000																								0							SO:0001583	missense			ENST00000276569.3	1	1	hg19	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548034	0.86022	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.51071	0.72;0.72;0.72	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.74881	2.28	0.80722	D	1	P	0.48640	0.913	B	0.36378	0.223	T	0.60870	-0.7177	10	0.59425	D	0.04	.	19.6375	0.95740	0.0:1.0:0.0:0.0	.	14	Q9NVT9	ARMC1_HUMAN	T	14	ENSP00000276569:A14T;ENSP00000429191:A14T;ENSP00000429715:A14T	ENSP00000276569:A14T	A	-	1	0	ARMC1	66702148	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.474000	0.81024	2.640000	0.89533	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	1	0	1	96	430	0	93	1	1	29	83	0	93	2		0	0	0	0	0	2	1	1	96	425	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTFR1	9650	broad.mit.edu	37	8	66619263	66619263	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66619263C>T	ENST00000262146.4	+	6	662	c.536C>T	c.(535-537)aCa>aTa	p.T179I	MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1			11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		GATTCTACCACATTTGGTACC	0.438000																								0							SO:0001583	missense			ENST00000262146.4	1	1	hg19	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.510237|1.510237	0.27036|0.27036	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.49432	.|0.78;0.78	5.49|5.49	2.42|2.42	0.29668|0.29668	.|.	.|0.976929	.|0.08443	.|N	.|0.945124	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.17465	.|0.022;0.004;0.002;0.005	.|B;B;B;B	.|0.20384	.|0.029;0.014;0.002;0.011	T|T	0.26087|0.26087	-1.0113|-1.0113	5|10	.|0.36615	.|T	.|0.2	0.3655|0.3655	7.3468|7.3468	0.26668|0.26668	0.0:0.5859:0.3241:0.09|0.0:0.5859:0.3241:0.09	.|.	.|179;163;146;179	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	Y|I	137|163;179;146	.|ENSP00000262146:T179I;ENSP00000391502:T146I	.|ENSP00000262146:T179I	H|T	+|+	1|2	0|0	MTFR1|MTFR1	66781817|66781817	0.000000|0.000000	0.05858|0.05858	0.079000|0.079000	0.20413|0.20413	0.650000|0.650000	0.38633|0.38633	0.112000|0.112000	0.15479|0.15479	1.280000|1.280000	0.44463|0.44463	0.650000|0.650000	0.86243|0.86243	CAT|ACA		TCGA-IB-7651-01A-11D-2154-08	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	1	0	0	29	326	0	60	1	9.003492e-01	9	38	0	60	2		0	0	0	0	0	2	1	1	29	309	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.940000	0.650000	1.000000	1.000000	0.912084	0.940000	1	7.900000e-01	1
XKR5	389610	broad.mit.edu	37	8	6673409	6673409	+	RNA	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6673409A>C	ENST00000518724.1	-	0	989							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5			3			STAD - Stomach adenocarcinoma(24;0.0984)		GGTGGCCAACAGCAACAGGAT	0.587000											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0											ENST00000518724.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	0	0	0	6	49	0	12	0	0	0	1	0	12	2		0	0	0	0	0	2	1	9.617068e-01	5	47	0	12	2								-12.270770	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.560000	1.000000	1.000000	0.948214	0.990000	1	8.700000e-01	1
XKR5	389610	broad.mit.edu	37	8	6681195	6681195	+	RNA	SNP	C	C	T	rs67407819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6681195C>T	ENST00000518724.1	-	0	635							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5			3			STAD - Stomach adenocarcinoma(24;0.0984)		GCCCATGAAGCGAGTGTAGGA	0.592000																								0											ENST00000518724.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	0	0	0	7	30	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.806902e-01	7	28	0	14	2								-15.302530	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.900000	1.000000	1.000000	0.993767	0.990000	1	9.900000e-01	1
XKR5	389610	broad.mit.edu	37	8	6690240	6690240	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6690240G>A	ENST00000518724.1	-	0	391				GS1-24F4.2_ENST00000500823.2_lincRNA			Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5			3			STAD - Stomach adenocarcinoma(24;0.0984)		TGTTCTTACCGCTTCCAAACA	0.527000																								0											ENST00000518724.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	0	0	0	67	319	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1	65	310	0	94	2								-20.000000	1	1	121068	2	38	1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJC5B	85479	broad.mit.edu	37	8	66989029	66989029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66989029C>T	ENST00000276570.5	+	4	541	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta			20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		AAGTACGGATCGCTGGGACTC	0.463000																								0							SO:0001583	missense			ENST00000276570.5	1	1	hg19	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333965	0.95758	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.72725	-0.68;-0.68	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.86602	0.5972	M	0.90425	3.115	0.80722	D	1	D	0.69078	0.997	P	0.61658	0.892	D	0.88780	0.3270	10	0.87932	D	0	.	19.8961	0.96958	0.0:1.0:0.0:0.0	.	85	Q9UF47	DNJ5B_HUMAN	L	85	ENSP00000276570:S85L;ENSP00000430196:S85L	ENSP00000276570:S85L	S	+	2	0	DNAJC5B	67151583	1.000000	0.71417	0.964000	0.40570	0.818000	0.46254	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	0	0	0	24	707	0	178	0	4.517726e-01	0	45	0	178	2		0	0	0	0	0	2	1	9.999996e-01	24	693	0	175	2								-3.107349	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.380000	0.250000	0.550000	0.380000	0.393633	0.380000	0	3.100000e-01	4.700000e-01
TRIM55	84675	broad.mit.edu	37	8	67040557	67040557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67040557C>T	ENST00000315962.4	+	2	560	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55			39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		CCCGTATTTGCCCACAAGAGG	0.478000																								0							SO:0001583	missense			ENST00000315962.4	1	1	hg19	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983031	0.53827	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.39406	1.45;1.51;1.46;1.08	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.047540	0.85682	D	0.000000	T	0.25531	0.0621	N	0.02916	-0.46	0.47153	D	0.999333	B;B;B;B	0.21688	0.021;0.059;0.012;0.01	B;B;B;B	0.23150	0.039;0.018;0.044;0.037	T	0.10154	-1.0642	10	0.41790	T	0.15	.	19.7667	0.96346	0.0:1.0:0.0:0.0	.	63;63;63;63	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	S	63	ENSP00000323913:P63S;ENSP00000297348:P63S;ENSP00000276573:P63S;ENSP00000332302:P63S	ENSP00000276573:P63S	P	+	1	0	TRIM55	67203111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.660000	0.90430	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	1	0	1	98	481	0	121	0	0	0	1	0	121	2		0	0	0	0	0	2	1	1	98	471	0	121	2								-3.333226	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADHFE1	137872	broad.mit.edu	37	8	67356848	67356848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67356848C>T	ENST00000396623.3	+	5	249	c.218C>T	c.(217-219)gCt>gTt	p.A73V	ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1			29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		AACATGGGTGCTAAAAATGTG	0.423000																								0							SO:0001583	missense			ENST00000396623.3	1	1	hg19	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	34	5.291775	0.95546	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.78	5.78	0.91487	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.48935	1.535	0.80722	D	1	B	0.27700	0.186	B	0.33121	0.158	T	0.22730	-1.0208	10	0.38643	T	0.18	-0.8193	20.0215	0.97504	0.0:1.0:0.0:0.0	.	73	Q8IWW8	HOT_HUMAN	V	8;73;73;25	ENSP00000428055:A8V;ENSP00000368695:A73V;ENSP00000379865:A73V;ENSP00000407115:A25V	ENSP00000368695:A73V	A	+	2	0	ADHFE1	67519402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	2.743000	0.94032	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	0	0	1	133	625	0	156	1	7.983490e-01	5	11	0	156	2		0	0	0	0	0	2	1	1	131	614	0	156	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADHFE1	137872	broad.mit.edu	37	8	67364315	67364315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67364315C>T	ENST00000396623.3	+	9	893	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1			29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		CCACGCGCTGCGGATCGTGGC	0.567000																								0							SO:0001583	missense			ENST00000396623.3	1	1	hg19	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	c	15.99	2.996950	0.54147	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.50548	0.74;0.74;0.74	5.52	0.228	0.15364	Alcohol dehydrogenase, iron-type (1);	0.293196	0.30771	N	0.008903	T	0.71126	0.3303	M	0.91612	3.225	0.22112	N	0.999358	D	0.65815	0.995	P	0.62382	0.901	T	0.71659	-0.4526	10	0.87932	D	0	-12.5708	16.6911	0.85322	0.6885:0.3115:0.0:0.0	.	288	Q8IWW8	HOT_HUMAN	W	288;288;240	ENSP00000368695:R288W;ENSP00000379865:R288W;ENSP00000407115:R240W	ENSP00000368695:R288W	R	+	1	2	ADHFE1	67526869	0.000000	0.05858	0.112000	0.21494	0.712000	0.41017	-0.659000	0.05323	-0.256000	0.09473	-0.194000	0.12790	CGG		TCGA-IB-7651-01A-11D-2154-08	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	1	0	1	55	211	0	64	0	3.664296e-01	1	5	0	64	2		0	0	0	0	0	2	1	1	55	207	0	62	2								-20.000000	1	1	121412	2	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADHFE1	137872	broad.mit.edu	37	8	67369306	67369306	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67369306C>T	ENST00000396623.3	+	12	1098	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Splice_Site_p.P308L	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1			29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		TCTCCCCAGCCCCATGGCCTT	0.522000																								0							SO:0001630	splice_region_variant			ENST00000396623.3	0	1	hg19	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	34	5.403705	0.96051	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.52057	0.68;0.68	5.83	5.83	0.93111	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	H	0.98314	4.2	0.80722	D	1	D	0.59357	0.985	D	0.64506	0.926	D	0.88264	0.2925	10	0.87932	D	0	-10.1005	20.1084	0.97900	0.0:1.0:0.0:0.0	.	356	Q8IWW8	HOT_HUMAN	L	356;308	ENSP00000379865:P356L;ENSP00000407115:P308L	ENSP00000379865:P356L	P	+	2	0	ADHFE1	67531860	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.690000	0.84178	2.752000	0.94435	0.563000	0.77884	CCC		TCGA-IB-7651-01A-11D-2154-08	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	0	0	0	32	959	0	234	0	3.472483e-02	0	9	0	234	2		0	0	0	0	0	2	1	1	32	929	0	234	2								-3.104879	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.370000	0.250000	0.510000	0.370000	0.384274	0.370000	0	3.100000e-01	4.500000e-01
C8orf46	254778	broad.mit.edu	37	8	67405895	67405895	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67405895G>T	ENST00000305454.3	+	1	453	c.12G>T	c.(10-12)caG>caT	p.Q4H	C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46			6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		TGATGCATCAGATTTACAGCT	0.512000																								0							SO:0001583	missense			ENST00000305454.3	1	1	hg19	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434499	0.83776	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	5.98	5.98	0.97165	.	0.087235	0.50627	D	0.000108	T	0.68805	0.3041	L	0.36672	1.1	0.49051	D	0.999742	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.964	T	0.69555	-0.5114	9	0.72032	D	0.01	-10.6183	18.6387	0.91387	0.0:0.0:1.0:0.0	.	4;4	Q8TAG6-2;Q8TAG6	.;CH046_HUMAN	H	4	.	ENSP00000302260:Q4H	Q	+	3	2	C8orf46	67568449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.740000	0.47418	2.835000	0.97688	0.650000	0.86243	CAG		TCGA-IB-7651-01A-11D-2154-08	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	1	0	1	56	260	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1	52	254	0	76	2								-3.300960	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VCPIP1	80124	broad.mit.edu	37	8	67576841	67576841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67576841G>A	ENST00000310421.4	-	1	2611	c.2353C>T	c.(2353-2355)Cga>Tga	p.R785*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	p.R785*(1)		45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		ATGGACTGTCGTCCATCATTA	0.433000													NSCLC(179;265 2915 6144 43644)											1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000310421.4	0	1	hg19	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	42	9.250744	0.99115	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.574	14.0684	0.64847	0.0:0.0:0.612:0.388	.	.	.	.	X	785	.	ENSP00000309031:R785X	R	-	1	2	VCPIP1	67739395	1.000000	0.71417	0.954000	0.39281	0.993000	0.82548	2.421000	0.44688	1.476000	0.48215	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	0	0	0	17	750	0	173	0	2.242672e-01	0	38	0	173	2		0	0	0	0	0	2	1	9.999568e-01	16	733	0	171	2								-2.652904	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.250000	0.150000	0.400000	0.260000	0.270240	0.250000	0	2.000000e-01	3.300000e-01
VCPIP1	80124	broad.mit.edu	37	8	67577555	67577555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577555G>A	ENST00000310421.4	-	1	1897	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1			45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		CTGACCTTTCGCACAGATGTG	0.423000													NSCLC(179;265 2915 6144 43644)											0							SO:0001587	stop_gained			ENST00000310421.4	0	1	hg19	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	39	7.657651	0.98415	.	.	ENSG00000175073	ENST00000310421	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3201	18.6399	0.91392	0.0:0.0:1.0:0.0	.	.	.	.	X	547	.	ENSP00000309031:R547X	R	-	1	2	VCPIP1	67740109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.454000	0.82982	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	1	0	1	205	906	0	244	1	9.973526e-01	4	37	0	244	2		0	0	0	0	0	2	1	1	197	884	0	244	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VCPIP1	80124	broad.mit.edu	37	8	67578482	67578482	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67578482A>C	ENST00000310421.4	-	1	970	c.712T>G	c.(712-714)Tta>Gta	p.L238V	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1			45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		TTCTCTCTTAAGGCATGCCAG	0.512000													NSCLC(179;265 2915 6144 43644)											0							SO:0001583	missense			ENST00000310421.4	1	1	hg19	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022707	0.54683	.	.	ENSG00000175073	ENST00000310421	T	0.44881	0.91	6.16	-1.24	0.09435	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.81942	2.565	0.53005	D	0.999967	D	0.69078	0.997	D	0.79108	0.992	T	0.69011	-0.5258	10	0.87932	D	0	-6.8277	15.0651	0.71986	0.2283:0.0:0.7717:0.0	.	238	Q96JH7	VCIP1_HUMAN	V	238	ENSP00000309031:L238V	ENSP00000309031:L238V	L	-	1	2	VCPIP1	67741036	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.171000	0.50824	-0.196000	0.10366	0.528000	0.53228	TTA		TCGA-IB-7651-01A-11D-2154-08	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	1	0	1	70	274	0	77	1	9.963288e-01	3	33	0	77	2		0	0	0	0	0	2	1	1	69	271	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGK3	23678	broad.mit.edu	37	8	67710851	67710851	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67710851T>G	ENST00000396596.1	+	3	385	c.171T>G	c.(169-171)ctT>ctG	p.L57L	SGK3_ENST00000522398.1_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000521198.2_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L|SGK3_ENST00000520976.1_Silent_p.L57L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3			18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		TTGATAAACTTTATAACACTG	0.303000																								0							SO:0001819	synonymous_variant			ENST00000396596.1	1	1	hg19	CCDS6195.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3	1	0	0	30	605	0	150	1	5.912443e-01	3	38	0	150	2		0	0	0	0	0	2	1	1	30	583	0	149	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.540000	0.370000	0.750000	0.550000	0.561050	0.540000	0	4.500000e-01	6.500000e-01
SGK3	23678	broad.mit.edu	37	8	67771751	67771751	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67771751T>G	ENST00000396596.1	+	17	1640	c.1426T>G	c.(1426-1428)Ttg>Gtg	p.L476V	SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000521198.2_Missense_Mutation_p.L476V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V|SGK3_ENST00000520976.1_Missense_Mutation_p.L444V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3			18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		TGCCAGTGTATTGGAGGCAGA	0.378000																								0							SO:0001583	missense			ENST00000396596.1	1	1	hg19	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	T	9.869	1.198526	0.22037	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.41	-0.871	0.10642	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.112392	0.64402	D	0.000012	T	0.34890	0.0913	L	0.45470	1.425	0.32286	N	0.566956	B;B	0.11235	0.004;0.002	B;B	0.18561	0.022;0.017	T	0.08994	-1.0695	9	0.29301	T	0.29	.	1.8129	0.03094	0.228:0.4477:0.1051:0.2193	.	444;476	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	V	476;476;476;476;444;476;476	ENSP00000429022:L476V;ENSP00000430463:L476V;ENSP00000430256:L476V;ENSP00000430691:L444V;ENSP00000379842:L476V;ENSP00000331816:L476V	ENSP00000262211:L476V	L	+	1	2	SGK3	67934305	0.736000	0.28164	0.297000	0.24988	0.994000	0.84299	1.425000	0.34859	-0.067000	0.12976	0.528000	0.53228	TTG		TCGA-IB-7651-01A-11D-2154-08	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3	1	0	1	89	366	0	91	1	9.999632e-01	11	52	0	91	2		0	0	0	0	0	2	1	1	87	360	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DEFA6	1671	broad.mit.edu	37	8	6783472	6783472	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783472A>G	ENST00000297436.2	-	1	126	c.86T>C	c.(85-87)cTg>cCg	p.L29P	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific			4			STAD - Stomach adenocarcinoma(24;0.0322)		TTTTGCCTGCAGTGGATCATC	0.572000																								0							SO:0001583	missense			ENST00000297436.2	1	1	hg19	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	9.823	1.186277	0.21870	.	.	ENSG00000164822	ENST00000297436	T	0.35973	1.28	0.559	0.559	0.17272	Defensin propeptide (1);	.	.	.	.	T	0.50718	0.1632	M	0.62016	1.91	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.34104	-0.9842	8	0.33940	T	0.23	.	.	.	.	.	29	Q01524	DEF6_HUMAN	P	29	ENSP00000297436:L29P	ENSP00000297436:L29P	L	-	2	0	DEFA6	6770882	0.008000	0.16893	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	0.469000	0.27268	0.459000	0.35465	CTG		TCGA-IB-7651-01A-11D-2154-08	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	1	0	1	26	88	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	1	26	87	0	18	2								-20.000000	1	0	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DEFA6	1671	broad.mit.edu	37	8	6783502	6783502	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783502G>T	ENST00000297436.2	-	1	96	c.56C>A	c.(55-57)gCt>gAt	p.A19D	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific			4			STAD - Stomach adenocarcinoma(24;0.0322)		GAGTGGCTCAGCCTTGGCCTG	0.597000																								0							SO:0001583	missense			ENST00000297436.2	1	1	hg19	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	8.184	0.794401	0.16327	.	.	ENSG00000164822	ENST00000297436	T	0.69926	-0.44	1.75	0.848	0.18966	Defensin propeptide (1);	0.209200	0.24020	N	0.042300	T	0.76933	0.4057	M	0.83012	2.62	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.64681	-0.6350	10	0.87932	D	0	.	4.0486	0.09785	0.2223:0.0:0.7777:0.0	.	19	Q01524	DEF6_HUMAN	D	19	ENSP00000297436:A19D	ENSP00000297436:A19D	A	-	2	0	DEFA6	6770912	0.056000	0.20664	0.010000	0.14722	0.095000	0.18619	1.088000	0.30877	0.313000	0.23062	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	1	0	1	17	75	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	9.999774e-01	17	73	0	18	2								-20.000000	1	0	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	0.999814	0.990000	1	9.900000e-01	1
DEFA4	1669	broad.mit.edu	37	8	6794269	6794269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6794269G>T	ENST00000297435.2	-	2	277	c.153C>A	c.(151-153)agC>agA	p.S51R		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin			10					GAAGAGCAGAGCTTTTATCCC	0.537000																								0							SO:0001583	missense			ENST00000297435.2	1	1	hg19	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	0.745	-0.775024	0.02951	.	.	ENSG00000164821	ENST00000297435	T	0.32988	1.43	1.66	1.66	0.24008	Defensin propeptide (1);	0.817561	0.09937	N	0.736416	T	0.15392	0.0371	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.37091	0.241	T	0.09530	-1.0670	9	0.12103	T	0.63	.	6.8453	0.23984	0.0:0.0:1.0:0.0	.	51	P12838	DEF4_HUMAN	R	51	ENSP00000297435:S51R	ENSP00000297435:S51R	S	-	3	2	DEFA4	6781679	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.162000	0.10012	1.231000	0.43661	0.558000	0.71614	AGC		TCGA-IB-7651-01A-11D-2154-08	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	1	0	1	80	366	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1	79	362	0	77	2								-20.000000	1	1	0	0		1	1	2	3	1.996874	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CSPP1	79848	broad.mit.edu	37	8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1			49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		AATGATGGGCGTACAGCCTGC	0.308000																								0							SO:0001583	missense			ENST00000262210.5	1	1	hg19	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498149	0.12762	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.28	3.42	0.39159	.	0.854677	0.10065	N	0.720405	T	0.24812	0.0602	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B	0.18310	0.001;0.004;0.027;0.027	B;B;B;B	0.13407	0.002;0.004;0.009;0.009	T	0.27262	-1.0079	10	0.30854	T	0.27	-4.8658	7.8446	0.29419	0.1696:0.1339:0.6965:0.0	.	248;542;577;577	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	542;577;248;248	ENSP00000262210:V542I;ENSP00000415782:V248I;ENSP00000430092:V248I	ENSP00000262210:V542I	V	+	1	0	CSPP1	68193552	0.013000	0.17824	0.998000	0.56505	0.956000	0.61745	0.281000	0.18810	0.292000	0.22492	-0.813000	0.03139	GTA		TCGA-IB-7651-01A-11D-2154-08	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	1	0	1	30	158	0	36	1	8.956950e-01	10	13	0	36	2		0	0	0	0	0	2	1	1	30	155	0	36	2								-3.262632	1	1	120802	13	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
ARFGEF1	10565	broad.mit.edu	37	8	68113742	68113742	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68113742G>A	ENST00000262215.3	-	37	5616	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)			65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		GCACTAACGCGGCTCTCATCC	0.547000																								0							SO:0001583	missense			ENST00000262215.3	1	1	hg19	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475915	0.84640	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.5;0.999	D;P;B;P	0.63488	0.915;0.776;0.102;0.841	T	0.70876	-0.4753	10	0.87932	D	0	.	15.057	0.71921	0.0:0.0:0.8524:0.1476	.	1743;1221;567;1197	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	C	1197;1743;74;581	ENSP00000428429:R1197C;ENSP00000262215:R1743C;ENSP00000429560:R74C;ENSP00000430891:R581C	ENSP00000262215:R1743C	R	-	1	0	ARFGEF1	68276296	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	4.568000	0.60857	1.372000	0.46190	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	0	13	301	0	67	1	9.911979e-01	13	171	0	67	2		0	0	0	0	0	2	1	9.995324e-01	13	298	0	66	2								-3.119362	1	1	121412	1	28	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.480000	0.270000	0.770000	0.470000	0.506373	0.480000	0	3.700000e-01	6.300000e-01
ARFGEF1	10565	broad.mit.edu	37	8	68117025	68117025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117025G>A	ENST00000262215.3	-	35	5238	c.4849C>T	c.(4849-4851)Ctg>Ttg	p.L1617L	ARFGEF1_ENST00000518230.1_Silent_p.L455L|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000520381.1_Silent_p.L1071L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)			65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		TTAATCAACAGGGCAGCAAAC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000262215.3	1	1	hg19	CCDS6199.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	0	80	423	0	86	1	9.999962e-01	22	74	0	86	2		0	0	0	0	0	2	1	1	80	419	0	86	2								-2.624361	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARFGEF1	10565	broad.mit.edu	37	8	68117027	68117027	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117027G>A	ENST00000262215.3	-	35	5236	c.4847C>T	c.(4846-4848)gCc>gTc	p.A1616V	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V|ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)			65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		AATCAACAGGGCAGCAAACAA	0.373000																								0							SO:0001583	missense			ENST00000262215.3	1	1	hg19	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936052	0.73442	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.51817	0.69;0.69;0.69	6.07	6.07	0.98685	.	0.054916	0.64402	D	0.000001	T	0.41650	0.1168	L	0.29908	0.895	0.80722	D	1	B;B;B	0.19935	0.017;0.04;0.022	B;B;B	0.18561	0.022;0.022;0.01	T	0.10730	-1.0617	10	0.38643	T	0.18	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	1616;440;1070	Q9Y6D6;B3KMS9;E5RIF2	BIG1_HUMAN;.;.	V	1070;1616;454	ENSP00000428429:A1070V;ENSP00000262215:A1616V;ENSP00000430891:A454V	ENSP00000262215:A1616V	A	-	2	0	ARFGEF1	68279581	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.912000	0.87465	2.884000	0.98904	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1	109	390	0	84	1	1	28	73	0	84	2		0	0	0	0	0	2	1	1	109	386	0	84	2								-20.000000	1	1	121412	1	36	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARFGEF1	10565	broad.mit.edu	37	8	68123756	68123756	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68123756G>T	ENST00000262215.3	-	34	5170	c.4781C>A	c.(4780-4782)gCt>gAt	p.A1594D	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)			65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		TTCATTAACAGCAGACGCAGA	0.328000																								0							SO:0001583	missense			ENST00000262215.3	1	1	hg19	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	1.780	-0.482276	0.04383	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.43688	2.94;2.11;0.94	5.29	4.18	0.49190	.	0.940533	0.08909	N	0.876178	T	0.18593	0.0446	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.14438	0.01;0.004;0.004	B;B;B	0.15484	0.013;0.004;0.004	T	0.20405	-1.0276	10	0.13108	T	0.6	.	6.2718	0.20959	0.1256:0.0:0.6963:0.1781	.	1594;1072;1048	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	D	1048;1594;432	ENSP00000428429:A1048D;ENSP00000262215:A1594D;ENSP00000430891:A432D	ENSP00000262215:A1594D	A	-	2	0	ARFGEF1	68286310	0.378000	0.25114	0.985000	0.45067	0.105000	0.19272	1.906000	0.39887	2.631000	0.89168	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1	18	256	0	38	1	9.996111e-01	26	160	0	38	2		0	0	0	0	0	2	1	9.999823e-01	17	253	0	38	2								-19.987190	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.760000	0.470000	1.000000	1.000000	0.773588	0.760000	0	6.000000e-01	9.500000e-01
ARFGEF1	10565	broad.mit.edu	37	8	68183949	68183949	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68183949C>A	ENST00000262215.3	-	10	1949	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)			65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		CAATTTGCATCTTCAGATGTG	0.318000																								0							SO:0001583	missense			ENST00000262215.3	1	1	hg19	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	c	18.87	3.715340	0.68844	.	.	ENSG00000066777	ENST00000262215	T	0.64618	-0.11	5.44	4.56	0.56223	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	10	0.66056	D	0.02	.	8.3321	0.32193	0.0:0.7776:0.0:0.2224	.	520	Q9Y6D6	BIG1_HUMAN	N	520	ENSP00000262215:K520N	ENSP00000262215:K520N	K	-	3	2	ARFGEF1	68346503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.531000	0.36018	2.545000	0.85829	0.585000	0.79938	AAG		TCGA-IB-7651-01A-11D-2154-08	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1	29	130	0	41	1	9.999148e-01	24	46	0	41	2		0	0	0	0	0	2	1	1	29	128	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
ARFGEF1	10565	broad.mit.edu	37	8	68200271	68200271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68200271C>T	ENST00000262215.3	-	7	1335	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)			65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		TGGTTTTCTCCGTCATATAAC	0.294000																								0							SO:0001583	missense			ENST00000262215.3	1	1	hg19	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244567	0.59103	.	.	ENSG00000066777	ENST00000262215	T	0.18960	2.18	5.39	5.39	0.77823	Armadillo-type fold (1);	0.132011	0.52532	D	0.000071	T	0.19685	0.0473	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06006	-1.0851	10	0.17832	T	0.49	.	19.5127	0.95148	0.0:1.0:0.0:0.0	.	316	Q9Y6D6	BIG1_HUMAN	R	316	ENSP00000262215:G316R	ENSP00000262215:G316R	G	-	1	0	ARFGEF1	68362825	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.952000	0.56691	2.688000	0.91661	0.460000	0.39030	GGA		TCGA-IB-7651-01A-11D-2154-08	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	1	0	1	68	395	0	82	1	9.998610e-01	20	57	0	82	2		0	0	0	0	0	2	1	1	67	391	0	82	2								-2.807687	1	1	121404	3	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PREX2	80243	broad.mit.edu	37	8	68965365	68965365	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68965365A>G	ENST00000288368.4	+	9	1254	c.977A>G	c.(976-978)aAt>aGt	p.N326S	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2			178					ATTGTTGTTAATGGATGGAAG	0.318000																								0							SO:0001583	missense			ENST00000288368.4	1	1	hg19	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669176	0.88348	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.89552	-2.53	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.96430	0.9318	10	0.72032	D	0.01	.	15.6423	0.77016	1.0:0.0:0.0:0.0	.	326;326;326	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	S	326	ENSP00000288368:N326S	ENSP00000288368:N326S	N	+	2	0	PREX2	69127919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.518000	0.81795	2.100000	0.63781	0.533000	0.62120	AAT		TCGA-IB-7651-01A-11D-2154-08	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	1	0	1	66	267	0	61	0	7.608441e-01	0	13	0	61	2		0	0	0	0	0	2	1	1	66	262	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C8orf34	116328	broad.mit.edu	37	8	69445334	69445334	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:69445334C>A	ENST00000539993.1	+	7	1346	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	C8orf34_ENST00000337103.4_Missense_Mutation_p.S241Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y|C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34			36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		CCTACCCCATCTGTAACAGAA	0.353000																								0							SO:0001583	missense			ENST00000539993.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.65	2.001855	0.35320	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.54279	0.58;0.62;0.6	5.54	3.76	0.43208	.	0.237331	0.44902	D	0.000405	T	0.62514	0.2434	L	0.60455	1.87	0.34619	D	0.718399	B;D	0.63880	0.156;0.993	B;P	0.59487	0.106;0.858	T	0.71196	-0.4664	9	.	.	.	-3.4848	11.9284	0.52833	0.0:0.8589:0.0:0.1411	.	266;266	Q49A92;Q49A92-3	CH034_HUMAN;.	Y	352;266;266;241	ENSP00000427820:S352Y;ENSP00000438159:S266Y;ENSP00000337174:S241Y	.	S	+	2	0	C8orf34	69607888	1.000000	0.71417	0.949000	0.38748	0.758000	0.43043	5.291000	0.65667	0.721000	0.32231	-0.229000	0.12294	TCT		TCGA-IB-7651-01A-11D-2154-08	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	93	470	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1	91	459	0	132	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SULF1	23213	broad.mit.edu	37	8	70517147	70517147	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70517147G>A	ENST00000260128.4	+	13	2074	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T|SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1			52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		GTACCAGACAGCCTGTGAACA	0.448000																								0							SO:0001583	missense			ENST00000260128.4	1	1	hg19	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016150	0.75161	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	6.04	6.04	0.98038	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.046975	0.85682	D	0.000000	D	0.97297	0.9116	L	0.35723	1.085	0.52099	D	0.999942	P	0.45078	0.85	B	0.42738	0.396	D	0.97297	0.9928	10	0.54805	T	0.06	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	453	Q8IWU6	SULF1_HUMAN	T	453	ENSP00000403040:A453T;ENSP00000260128:A453T;ENSP00000385704:A453T;ENSP00000390315:A453T	ENSP00000260128:A453T	A	+	1	0	SULF1	70679701	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.174000	0.71943	2.873000	0.98535	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	1	0	1	71	387	0	89	0	1	1	1729	0	89	2		0	0	0	0	0	2	1	1	70	379	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SULF1	23213	broad.mit.edu	37	8	70533385	70533385	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70533385A>C	ENST00000260128.4	+	14	2210	c.1493A>C	c.(1492-1494)cAt>cCt	p.H498P	SULF1_ENST00000419716.3_Missense_Mutation_p.H498P|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P|SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1			52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		CGCGGCTTCCATGACAAAGAC	0.527000																								0							SO:0001583	missense			ENST00000260128.4	1	1	hg19	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	7.434	0.639363	0.14386	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.95	0.437	0.16555	Alkaline-phosphatase-like, core domain (1);	0.503729	0.24341	N	0.039369	D	0.93864	0.8037	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87386	0.2360	10	0.25751	T	0.34	.	5.2695	0.15617	0.4829:0.263:0.2542:0.0	.	498	Q8IWU6	SULF1_HUMAN	P	498	ENSP00000403040:H498P;ENSP00000260128:H498P;ENSP00000385704:H498P;ENSP00000390315:H498P	ENSP00000260128:H498P	H	+	2	0	SULF1	70695939	0.001000	0.12720	0.733000	0.30861	0.473000	0.32948	0.257000	0.18369	0.478000	0.27488	0.533000	0.62120	CAT		TCGA-IB-7651-01A-11D-2154-08	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	1	0	1	51	236	0	64	0	1	0	1625	0	64	2		0	0	0	0	0	2	1	1	51	234	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70585410G>A	ENST00000260126.4	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1			53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		TAAACCCAACGAATTTGAGGC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000260126.4	1	1	hg19	CCDS6205.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	1	0	1	97	443	0	130	0	8.677733e-02	0	3	0	130	2		0	0	0	0	0	2	1	1	90	431	0	130	2								-3.279512	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO5A1	81796	broad.mit.edu	37	8	70617395	70617395	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70617395A>C	ENST00000260126.4	-	6	2199	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1			53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		TCTGGCACCAAGTTTCAATTT	0.398000																								0							SO:0001583	missense			ENST00000260126.4	1	1	hg19	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611302	0.87258	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.48522	0.81;0.81;0.81	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.83275	0.996;0.993;0.98;0.975	T	0.79999	-0.1566	10	0.59425	D	0.04	.	15.9962	0.80250	1.0:0.0:0.0:0.0	.	443;443;498;498	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	R	498;498;443	ENSP00000260126:L498R;ENSP00000434422:L498R;ENSP00000431611:L443R	ENSP00000260126:L498R	L	-	2	0	SLCO5A1	70779949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.253000	0.95501	2.234000	0.73211	0.533000	0.62120	CTT		TCGA-IB-7651-01A-11D-2154-08	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	1	0	1	75	322	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	74	317	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744219C>T	ENST00000260126.4	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1			53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		CGTTGGGGGCCGAGGCGTTCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000260126.4	1	1	hg19	CCDS6205.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	1	0	1	62	254	0	44	0	1.030934e-01	0	3	0	44	2		0	0	0	0	0	2	1	1	62	250	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLCO5A1	81796	broad.mit.edu	37	8	70744328	70744328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744328C>T	ENST00000260126.4	-	2	1287	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1			53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		CCACAGGGGCCGCCGACCCCG	0.637000																								0							SO:0001583	missense			ENST00000260126.4	0	1	hg19	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545534	0.96488	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.53857	0.6;0.6;0.6	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100668	0.64402	D	0.000004	T	0.77824	0.4188	M	0.87682	2.9	0.53688	D	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	T	0.81132	-0.1072	10	0.66056	D	0.02	.	19.377	0.94514	0.0:1.0:0.0:0.0	.	194;194;194;194	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	Q	194	ENSP00000260126:R194Q;ENSP00000434422:R194Q;ENSP00000431611:R194Q	ENSP00000260126:R194Q	R	-	2	0	SLCO5A1	70906882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.586000	0.87340	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	0	0	6	273	0	48	0	7.017016e-04	0	2	0	48	2		0	0	0	0	0	2	1	9.650438e-01	7	271	0	48	2								-7.169022	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.260000	0.100000	0.500000	0.240000	0.284154	0.260000	0	1.700000e-01	3.800000e-01
SLCO5A1	81796	broad.mit.edu	37	8	70744437	70744437	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744437T>C	ENST00000260126.4	-	2	1178	c.472A>G	c.(472-474)Agg>Ggg	p.R158G	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1			53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		CTGTAGCGCCTTTCAATGGTG	0.562000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000260126.4	0	1	hg19	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799510	0.70567	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.53857	0.6;0.6;0.6	5.71	3.12	0.35913	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.101427	0.64402	D	0.000003	T	0.62624	0.2443	M	0.63843	1.955	0.37875	D	0.930193	P;D;P;P	0.55172	0.775;0.97;0.775;0.734	P;P;P;P	0.56563	0.697;0.801;0.601;0.571	T	0.70506	-0.4853	10	0.87932	D	0	.	12.6192	0.56594	0.0:0.0:0.3868:0.6132	.	158;158;158;158	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	G	158	ENSP00000260126:R158G;ENSP00000434422:R158G;ENSP00000431611:R158G	ENSP00000260126:R158G	R	-	1	2	SLCO5A1	70906991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.455000	0.52993	0.950000	0.37743	0.459000	0.35465	AGG		TCGA-IB-7651-01A-11D-2154-08	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	0	0	6	266	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.638187e-01	6	262	0	51	2								-7.100422	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.270000	0.110000	0.520000	0.260000	0.291270	0.270000	0	1.700000e-01	3.900000e-01
SLCO5A1	81796	broad.mit.edu	37	8	70744640	70744640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744640G>A	ENST00000260126.4	-	2	975	c.269C>T	c.(268-270)gCg>gTg	p.A90V	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1			53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		CCCGAGCCCCGCCGAAGTGGA	0.642000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000260126.4	1	1	hg19	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244930	0.39697	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.44083	1.08;1.44;0.93	4.99	3.15	0.36227	.	1.275500	0.05249	N	0.513614	T	0.32556	0.0833	L	0.29908	0.895	0.30230	N	0.795995	B;B;B;B	0.17268	0.021;0.004;0.004;0.007	B;B;B;B	0.09377	0.002;0.002;0.002;0.004	T	0.24225	-1.0166	10	0.33940	T	0.23	.	7.8051	0.29198	0.1945:0.0:0.8055:0.0	.	90;90;90;90	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	V	90	ENSP00000260126:A90V;ENSP00000434422:A90V;ENSP00000431611:A90V	ENSP00000260126:A90V	A	-	2	0	SLCO5A1	70907194	0.705000	0.27846	0.984000	0.44739	0.814000	0.46013	1.023000	0.30065	1.328000	0.45358	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	0	1	58	276	0	51	0	3.107826e-02	0	2	0	51	2		0	0	0	0	0	2	1	1	57	270	0	50	2								-3.375164	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM14	63978	broad.mit.edu	37	8	70978553	70978553	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70978553C>T	ENST00000276594.2	-	5	1301	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14			32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		ATAGCAGTCTCCATACCACAC	0.512000													NSCLC(129;99 1813 5906 40656 46114)											0							SO:0001583	missense			ENST00000276594.2	1	1	hg19	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899578	0.91962	.	.	ENSG00000147596	ENST00000276594	D	0.86627	-2.15	5.62	5.62	0.85841	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95552	0.8621	10	0.66056	D	0.02	-13.0938	19.6488	0.95793	0.0:1.0:0.0:0.0	.	367	Q9GZV8	PRD14_HUMAN	E	367	ENSP00000276594:G367E	ENSP00000276594:G367E	G	-	2	0	PRDM14	71141107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.481000	0.81124	2.637000	0.89404	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1	1	0	1	83	318	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	83	316	0	78	2								-3.780141	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRDM14	63978	broad.mit.edu	37	8	70981662	70981662	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70981662C>T	ENST00000276594.2	-	2	635	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14			32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		AGTGTCAGGTCCACAACACGG	0.587000													NSCLC(129;99 1813 5906 40656 46114)											0							SO:0001583	missense			ENST00000276594.2	1	1	hg19	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457606	0.43634	.	.	ENSG00000147596	ENST00000276594	T	0.10288	2.89	4.91	0.865	0.19074	.	1.039280	0.07551	N	0.915390	T	0.07324	0.0185	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41822	-0.9487	10	0.35671	T	0.21	-1.2174	5.2354	0.15443	0.0:0.4967:0.3205:0.1828	.	145	Q9GZV8	PRD14_HUMAN	E	145	ENSP00000276594:G145E	ENSP00000276594:G145E	G	-	2	0	PRDM14	71144216	0.976000	0.34144	0.001000	0.08648	0.062000	0.15995	-0.100000	0.10990	-0.026000	0.13895	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1	1	0	1	40	271	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	39	268	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999669	0.990000	1	9.900000e-01	1
NCOA2	10499	broad.mit.edu	37	8	71039253	71039253	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71039253C>T	ENST00000452400.2	-	19	3892	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	NCOA2_ENST00000267974.4_Silent_p.Q325Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2		PAX3/NCOA2(4)|HEY1/NCOA2(10)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		CCCTCTGTCTCTGGGCCAGCA	0.453000			T	RUNXBP2, HEY1	AML, Chondrosarcoma										Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0							SO:0001819	synonymous_variant			ENST00000452400.2	0	1	hg19	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.836999	0.16891	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.97	1.57	0.23409	.	.	.	.	.	T	0.60919	0.2306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56998	-0.7886	4	.	.	.	.	11.6264	0.51147	0.0:0.7114:0.0:0.2886	.	.	.	.	K	338	.	.	R	-	2	0	NCOA2	71201807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.108000	0.31123	0.389000	0.25086	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	1	0	1	9	71	0	15	1	9.951209e-01	13	67	0	15	2		0	0	0	0	0	2	1	9.948237e-01	9	70	0	14	2								-15.617500	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.650000	1.000000	1.000000	0.962683	0.990000	1	9.200000e-01	1
NCOA2	10499	broad.mit.edu	37	8	71041048	71041048	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71041048A>G	ENST00000452400.2	-	17	3673	c.3492T>C	c.(3490-3492)agT>agC	p.S1164S	NCOA2_ENST00000267974.4_Silent_p.S252S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2		PAX3/NCOA2(4)|HEY1/NCOA2(10)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		GTGTGGCATAACTAGGCCGCT	0.552000			T	RUNXBP2, HEY1	AML, Chondrosarcoma										Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0							SO:0001819	synonymous_variant			ENST00000452400.2	1	1	hg19	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	9.566	1.119824	0.20877	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.78	-4.55	0.03441	.	.	.	.	.	T	0.49541	0.1563	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.48603	-0.9021	4	.	.	.	.	7.2136	0.25947	0.2704:0.1034:0.5253:0.1009	.	.	.	.	A	265	.	.	V	-	2	0	NCOA2	71203602	0.002000	0.14202	0.002000	0.10522	0.982000	0.71751	-0.913000	0.04042	-0.794000	0.04468	-0.408000	0.06270	GTT		TCGA-IB-7651-01A-11D-2154-08	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	1	0	1	42	189	0	54	1	9.994296e-01	6	48	0	54	2		0	0	0	0	0	2	1	1	41	187	0	54	2								-19.999970	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA2	10499	broad.mit.edu	37	8	71068359	71068359	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71068359A>G	ENST00000452400.2	-	11	2422	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2		PAX3/NCOA2(4)|HEY1/NCOA2(10)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		TATCTAGCAAATAGCGAAGTA	0.438000			T	RUNXBP2, HEY1	AML, Chondrosarcoma										Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0							SO:0001819	synonymous_variant			ENST00000452400.2	1	1	hg19	CCDS47872.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	1	0	0	101	443	0	95	1	9.991483e-01	14	34	0	95	2		0	0	0	0	0	2	1	1	98	436	0	93	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NCOA2	10499	broad.mit.edu	37	8	71069403	71069403	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71069403G>T	ENST00000452400.2	-	11	1378	c.1197C>A	c.(1195-1197)agC>agA	p.S399R	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2		PAX3/NCOA2(4)|HEY1/NCOA2(10)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		GGCTGTTAGAGCTAATTGGAT	0.463000			T	RUNXBP2, HEY1	AML, Chondrosarcoma										Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0							SO:0001583	missense			ENST00000452400.2	1	1	hg19	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916455	0.17907	.	.	ENSG00000140396	ENST00000452400	T	0.01584	4.75	5.8	4.93	0.64822	.	0.133374	0.64402	D	0.000001	T	0.01800	0.0057	L	0.36672	1.1	0.80722	D	1	B	0.31910	0.346	B	0.27887	0.084	T	0.62062	-0.6933	10	0.38643	T	0.18	.	8.3779	0.32453	0.1384:0.1278:0.7338:0.0	.	399	Q15596	NCOA2_HUMAN	R	399	ENSP00000399968:S399R	ENSP00000399968:S399R	S	-	3	2	NCOA2	71231957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.486000	0.45259	1.451000	0.47736	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	0	0	1	36	147	0	28	0	9.787929e-01	1	27	0	28	2		0	0	0	0	0	2	1	1	36	144	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NCOA2	10499	broad.mit.edu	37	8	71082518	71082518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71082518G>A	ENST00000452400.2	-	6	641	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2		PAX3/NCOA2(4)|HEY1/NCOA2(10)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		TTGTTCATCAGCTCTTCTTGG	0.433000			T	RUNXBP2, HEY1	AML, Chondrosarcoma										Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0							SO:0001819	synonymous_variant			ENST00000452400.2	0	1	hg19	CCDS47872.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	0	0	0	4	91	0	18	1	4.824103e-01	2	31	0	18	2		0	0	0	0	0	2	1	8.842152e-01	4	88	0	18	2								-7.654690	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.520000	0.180000	1.000000	1.000000	0.558015	0.520000	0	3.200000e-01	7.900000e-01
TRAM1	23471	broad.mit.edu	37	8	71508556	71508556	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71508556C>T	ENST00000262213.2	-	5	596	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site_p.E112K|TRAM1_ENST00000521425.1_Splice_Site_p.E57K	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1			17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		ATGTAGTTTTCCTAAGAAAGA	0.373000													Ovarian(85;984 1334 5116 12432 40638)											0							SO:0001630	splice_region_variant			ENST00000262213.2	1	0	hg19	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579000	0.96565	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.85484	-1.99;-1.99;-1.99	6.08	6.08	0.98989	TRAM/LAG1/CLN8 homology domain (3);	0.097717	0.64402	D	0.000001	D	0.93766	0.8007	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91854	0.5494	10	0.33940	T	0.23	-10.4254	20.6721	0.99693	0.0:1.0:0.0:0.0	.	143	Q15629	TRAM1_HUMAN	K	57;143;112	ENSP00000428052:E57K;ENSP00000262213:E143K;ENSP00000439359:E112K	ENSP00000262213:E143K	E	-	1	0	TRAM1	71671110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.909000	0.75735	2.894000	0.99253	0.591000	0.81541	GAA		TCGA-IB-7651-01A-11D-2154-08	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	1	0	1	73	314	0	83	1	1	186	1047	0	83	2		0	0	0	0	0	2	1	1	70	307	0	82	2								-3.379702	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XKR9	389668	broad.mit.edu	37	8	71619372	71619372	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71619372A>C	ENST00000408926.3	+	4	1011	c.477A>C	c.(475-477)caA>caC	p.Q159H	XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9			19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		AGCATGGACAAGCGAATTTCA	0.398000																								0							SO:0001583	missense			ENST00000408926.3	1	1	hg19	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	A	7.060	0.566116	0.13560	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64803	-0.12;-0.12	5.03	2.7	0.31948	.	0.643829	0.15516	N	0.258289	T	0.48352	0.1495	L	0.53249	1.67	0.09310	N	1	P	0.38223	0.623	B	0.36186	0.219	T	0.45440	-0.9261	10	0.39692	T	0.17	-0.0441	0.6152	0.00768	0.4631:0.1745:0.1943:0.1681	.	159	Q5GH70	XKR9_HUMAN	H	159	ENSP00000386141:Q159H;ENSP00000431088:Q159H	ENSP00000386141:Q159H	Q	+	3	2	XKR9	71781926	0.009000	0.17119	0.011000	0.14972	0.479000	0.33129	0.593000	0.23999	0.781000	0.33589	0.460000	0.39030	CAA		TCGA-IB-7651-01A-11D-2154-08	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	0	0	0	15	403	0	98	1	5.481072e-01	9	40	0	98	2		0	0	0	0	0	2	1	9.998550e-01	15	394	0	97	2								-3.585833	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.420000	0.240000	0.650000	0.410000	0.437296	0.420000	0	3.200000e-01	5.400000e-01
XKR9	389668	broad.mit.edu	37	8	71646310	71646310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646310G>T	ENST00000408926.3	+	5	1307	c.773G>T	c.(772-774)aGt>aTt	p.S258I	XKR9_ENST00000520030.1_Missense_Mutation_p.S258I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9			19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		ACTTGTATAAGTATGGAATTC	0.274000																								0							SO:0001583	missense			ENST00000408926.3	1	1	hg19	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	4.350	0.064419	0.08388	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.64438	-0.1;-0.1	4.99	4.09	0.47781	.	1.137670	0.06108	N	0.666720	T	0.58652	0.2137	L	0.55481	1.735	0.09310	N	1	P	0.38395	0.629	B	0.41619	0.361	T	0.46748	-0.9169	10	0.21540	T	0.41	0.5492	4.7866	0.13227	0.086:0.1521:0.6048:0.1571	.	258	Q5GH70	XKR9_HUMAN	I	258	ENSP00000386141:S258I;ENSP00000431088:S258I	ENSP00000386141:S258I	S	+	2	0	XKR9	71808864	0.993000	0.37304	0.556000	0.28293	0.194000	0.23727	2.704000	0.47118	1.268000	0.44264	0.563000	0.77884	AGT		TCGA-IB-7651-01A-11D-2154-08	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	1	0	1	42	187	0	52	1	9.458367e-01	2	22	0	52	2		0	0	0	0	0	2	1	1	40	185	0	52	2								-19.999970	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XKR9	389668	broad.mit.edu	37	8	71646532	71646532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646532G>T	ENST00000408926.3	+	5	1529	c.995G>T	c.(994-996)gGa>gTa	p.G332V	XKR9_ENST00000520030.1_Missense_Mutation_p.G332V|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9			19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		CTTCTTCTTGGAATTCTTTTT	0.333000																								0							SO:0001583	missense			ENST00000408926.3	1	1	hg19	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034078	0.75504	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.78816	-1.21;-1.21	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91059	0.4884	10	0.87932	D	0	-12.7087	18.4549	0.90717	0.0:0.0:1.0:0.0	.	332	Q5GH70	XKR9_HUMAN	V	332	ENSP00000386141:G332V;ENSP00000431088:G332V	ENSP00000386141:G332V	G	+	2	0	XKR9	71809086	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.920000	0.75799	2.592000	0.87571	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	1	0	1	14	87	0	41	1	8.238828e-01	3	19	0	41	2		0	0	0	0	0	2	1	9.998286e-01	14	87	0	41	2								-19.999350	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.900000	1.000000	1.000000	0.994345	0.990000	1	9.900000e-01	1
EYA1	2138	broad.mit.edu	37	8	72128969	72128969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72128969G>A	ENST00000340726.3	-	14	1957	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388740.3_Missense_Mutation_p.R407W|EYA1_ENST00000388743.2_Missense_Mutation_p.R439W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1			44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)		TCTTTTACCCGTCTGTAGCGG	0.463000																								0							SO:0001583	missense			ENST00000340726.3	1	1	hg19	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916777	0.73098	0.0	2.33E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.44	4.53	0.55603	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.967;0.988;0.991;0.967;0.992	D	0.91073	0.4894	10	0.87932	D	0	-12.6378	13.5438	0.61690	0.0:0.0:0.7247:0.2753	.	434;367;407;440;405	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	W	440;440;408;407;434;406;439;405	ENSP00000373394:R440W;ENSP00000342626:R440W;ENSP00000373392:R407W;ENSP00000303221:R434W;ENSP00000373393:R406W;ENSP00000373395:R439W;ENSP00000410176:R405W	ENSP00000303221:R434W	R	-	1	2	EYA1	72291523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.373000	0.59537	2.832000	0.97577	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	1	0	1	102	393	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	102	389	0	67	2								-20.000000	1	1	121412	1	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EYA1	2138	broad.mit.edu	37	8	72184056	72184056	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184056C>T	ENST00000340726.3	-	10	1542	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000388741.2_Silent_p.G267G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1			44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)		CACGTGATTTCCCATCTGAAC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000340726.3	1	1	hg19	CCDS34906.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	1	0	1	175	797	0	183		0	0	0	0	183	2		0	0	0	0	0	2	1	1	173	783	0	183	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EYA1	2138	broad.mit.edu	37	8	72184084	72184084	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184084G>T	ENST00000340726.3	-	10	1514	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y|EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y|EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1			44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)		CAATCGATCAGAATCTGAATC	0.463000																								0							SO:0001583	missense			ENST00000340726.3	1	1	hg19	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891954	0.91889	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.7	5.7	0.88788	.	0.127359	0.56097	D	0.000031	D	0.86451	0.5936	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.998;0.996;0.996;0.995	D;D;P;D;P	0.75020	0.937;0.985;0.905;0.937;0.834	T	0.80948	-0.1154	10	0.09590	T	0.72	-6.9874	19.8344	0.96650	0.0:0.0:1.0:0.0	.	286;219;259;292;287	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	292;292;260;259;286;258;291;287	ENSP00000373394:S292Y;ENSP00000342626:S292Y;ENSP00000373392:S259Y;ENSP00000303221:S286Y;ENSP00000373393:S258Y;ENSP00000373395:S291Y;ENSP00000410176:S287Y	ENSP00000303221:S286Y	S	-	2	0	EYA1	72346638	1.000000	0.71417	0.921000	0.36526	0.997000	0.91878	9.272000	0.95707	2.696000	0.92011	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	1	0	1	214	996	0	217		0	0	0	0	217	2		0	0	0	0	0	2	1	1	212	979	0	215	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSC	9242	broad.mit.edu	37	8	72754977	72754977	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72754977C>A	ENST00000325509.4	-	2	829	c.540G>T	c.(538-540)tgG>tgT	p.W180C	RP11-383H13.1_ENST00000524152.1_5'Flank|MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000537896.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin			26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		CCACGAATGGCCATGTCTGTA	0.473000																								0							SO:0001583	missense			ENST00000325509.4	1	1	hg19	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598965	0.87055	.	.	ENSG00000178860	ENST00000325509	D	0.87887	-2.31	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92801	0.6256	10	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	180	O60682	MUSC_HUMAN	C	180	ENSP00000321445:W180C	ENSP00000321445:W180C	W	-	3	0	MSC	72917531	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.137000	0.77295	2.559000	0.86315	0.462000	0.41574	TGG		TCGA-IB-7651-01A-11D-2154-08	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	1	0	0	76	1347	0	263	0	8.714834e-01	0	66	0	263	2		0	0	0	0	0	2	1	1	76	1328	0	263	2								-8.313923	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.610000	0.490000	0.760000	0.620000	0.625826	0.610000	0	5.500000e-01	6.900000e-01
MSC	9242	broad.mit.edu	37	8	72755888	72755888	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72755888C>T	ENST00000325509.4	-	1	815	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	RP11-383H13.1_ENST00000524152.1_5'UTR|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin			26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		ACCAGGTTCACTGGGTGCACG	0.657000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000325509.4	1	1	hg19	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997270	0.93167	.	.	ENSG00000178860	ENST00000325509	D	0.88046	-2.33	5.07	5.07	0.68467	Helix-loop-helix DNA-binding (1);	0.060231	0.64402	D	0.000003	D	0.91855	0.7422	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.92441	0.5962	10	0.62326	D	0.03	.	18.4569	0.90724	0.0:1.0:0.0:0.0	.	176	O60682	MUSC_HUMAN	M	176	ENSP00000321445:V176M	ENSP00000321445:V176M	V	-	1	0	MSC	72918442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.636000	0.83301	2.365000	0.80145	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	1	0	0	54	287	0	53	0	9.993839e-01	0	61	0	53	2		0	0	0	0	0	2	1	1	52	282	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MSC	9242	broad.mit.edu	37	8	72756150	72756150	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72756150G>A	ENST00000325509.4	-	1	553	c.264C>T	c.(262-264)ggC>ggT	p.G88G	RP11-383H13.1_ENST00000524152.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin			26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		TGCCACCACCGCCCGCGCTAC	0.741000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000325509.4	0	1	hg19	CCDS43746.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	1	0	0	13	68	0	13	0	3.012048e-02	0	2	0	13	2		0	0	0	0	0	2	1	9.995949e-01	12	66	0	12	2								-19.999730	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.980000	1.000000	1.000000	0.997087	0.990000	1	9.900000e-01	1
TRPA1	8989	broad.mit.edu	37	8	72950237	72950237	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72950237G>A	ENST00000262209.4	-	20	2573	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	p.A789V(1)		98			Epithelial(68;0.223)	Menthol(DB00825)	AATTTGCCCCGCTTCTTTGCA	0.274000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262209.4	1	1	hg19	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	0.257	-1.002122	0.02128	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77358	-1.09;-1.09	5.58	4.36	0.52297	Ion transport (1);	0.669343	0.15878	N	0.240178	T	0.42314	0.1197	N	0.00656	-1.285	0.26743	N	0.970347	B	0.06786	0.001	B	0.04013	0.001	T	0.36720	-0.9736	10	0.06891	T	0.86	-11.0883	7.9719	0.30132	0.8368:0.0:0.1632:0.0	.	789	O75762	TRPA1_HUMAN	V	641;789	ENSP00000428151:A641V;ENSP00000262209:A789V	ENSP00000262209:A789V	A	-	2	0	TRPA1	73112791	0.855000	0.29742	0.961000	0.40146	0.539000	0.34962	3.072000	0.50049	0.938000	0.37419	-0.290000	0.09829	GCG		TCGA-IB-7651-01A-11D-2154-08	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	1	0	0	7	72	0	42	0	1.084011e-02	0	2	0	42	2		0	0	0	0	0	2	1	9.814076e-01	7	71	0	42	2								-5.630180	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.470000	1.000000	1.000000	0.894255	0.990000	1	7.100000e-01	1
SPAG11B	10407	broad.mit.edu	37	8	7320352	7320352	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:7320352A>G	ENST00000297498.2	-	2	257	c.91T>C	c.(91-93)Tca>Cca	p.S31P	SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P|SPAG11B_ENST00000317900.5_Missense_Mutation_p.S31P	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B			6					TCAGTGGCTGAGTGGTTCACA	0.587000																								0							SO:0001583	missense			ENST00000297498.2	1	1	hg19	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805612	0.31961	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.48201	1.41;0.82;1.41	2.59	-3.59	0.04583	.	.	.	.	.	T	0.48572	0.1507	L	0.36672	1.1	0.09310	N	1	B;B;D;D;D	0.76494	0.001;0.002;0.985;0.981;0.999	B;B;D;D;D	0.83275	0.001;0.003;0.976;0.959;0.996	T	0.40572	-0.9556	9	0.35671	T	0.21	.	4.2386	0.10637	0.2287:0.4068:0.3645:0.0	.	31;31;31;31;31	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	P	14;31;31;31;31;31	ENSP00000437154:S14P;ENSP00000354411:S31P;ENSP00000297498:S31P	ENSP00000297498:S31P	S	-	1	0	SPAG11B	7307762	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.094000	0.15107	-0.747000	0.04759	0.378000	0.23410	TCA		TCGA-IB-7651-01A-11D-2154-08	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	1	0	0	48	454	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	9.999999e-01	44	390	1	207	9								-14.658590	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.830000	1.000000	1.000000	0.982670	0.990000	1	9.600000e-01	1
KCNB2	9312	broad.mit.edu	37	8	73480440	73480440	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73480440G>A	ENST00000523207.1	+	2	1059	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	GAGAGGCAGAGACTATGCGAG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000523207.1	1	1	hg19	CCDS6209.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1	125	656	0	179	0	0	0	1	0	179	2		0	0	0	0	0	2	1	1	119	645	0	178	2								-20.000000	1	1	121412	1	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNB2	9312	broad.mit.edu	37	8	73848612	73848612	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848612T>G	ENST00000523207.1	+	3	1610	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	TTGATATTGTTTCTGGCCATG	0.468000																								0							SO:0001583	missense			ENST00000523207.1	1	1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482737	0.84747	.	.	ENSG00000182674	ENST00000523207	D	0.98914	-5.23	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.46758	D	0.000266	D	0.99202	0.9723	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.87932	D	0	.	16.0257	0.80541	0.0:0.0:0.0:1.0	.	341	Q92953	KCNB2_HUMAN	C	341	ENSP00000430846:F341C	ENSP00000430846:F341C	F	+	2	0	KCNB2	74011166	1.000000	0.71417	0.953000	0.39169	0.987000	0.75469	8.040000	0.89188	2.182000	0.69389	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1	140	697	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	140	684	0	149	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNB2	9312	broad.mit.edu	37	8	73848830	73848830	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848830C>T	ENST00000523207.1	+	3	1828	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	CCTTCCTATCCCAATTATTGT	0.443000																								0							SO:0001583	missense			ENST00000523207.1	1	1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016589	0.75161	.	.	ENSG00000182674	ENST00000523207	D	0.98419	-4.92	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.45126	D	0.000385	D	0.98741	0.9577	M	0.67397	2.05	0.80722	D	1	D	0.59767	0.986	D	0.68943	0.961	D	0.99865	1.1088	10	0.87932	D	0	.	19.91	0.97023	0.0:1.0:0.0:0.0	.	414	Q92953	KCNB2_HUMAN	S	414	ENSP00000430846:P414S	ENSP00000430846:P414S	P	+	1	0	KCNB2	74011384	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1	80	328	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	78	319	0	76	2								-3.328298	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RDH10	157506	broad.mit.edu	37	8	74209428	74209428	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74209428G>A	ENST00000240285.5	+	2	967		c.e2-1		RPL7_ENST00000396465.1_5'Flank|RP11-434I12.2_ENST00000520894.1_RNA|RDH10_ENST00000519380.1_De_novo_Start_OutOfFrame|RPL7_ENST00000396466.1_5'Flank	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)			11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		TCTGAGGACAGCTGGGAATGG	0.478000																								0							SO:0001630	splice_region_variant			ENST00000240285.5	1	0	hg19	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638496	0.67130	.	.	ENSG00000121039	ENST00000240285	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9535	0.92649	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RDH10	74371982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.337000	0.72958	2.780000	0.95670	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1	1	0	0	33	129	0	34	1	4.397635e-02	2	0	0	34	2		0	0	0	0	0	2	1	1	32	129	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RDH10	157506	broad.mit.edu	37	8	74234928	74234928	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234928C>A	ENST00000240285.5	+	5	1463	c.785C>A	c.(784-786)cCt>cAt	p.P262H	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P97H	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)			11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		GAAATTGAGCCTTTTCTGCCA	0.398000																								0							SO:0001583	missense			ENST00000240285.5	1	1	hg19	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674208	0.47781	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.91068	-2.78;0.41	5.25	4.38	0.52667	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	N	0.11560	0.145	0.58432	D	0.999994	D	0.58970	0.984	P	0.49922	0.626	T	0.81863	-0.0737	10	0.14656	T	0.56	.	14.4028	0.67060	0.0:0.929:0.0:0.071	.	262	Q8IZV5	RDH10_HUMAN	H	262;97	ENSP00000240285:P262H;ENSP00000428132:P97H	ENSP00000240285:P262H	P	+	2	0	RDH10	74397482	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.854000	0.55949	1.589000	0.49982	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1	1	0	1	51	282	0	60	1	9.983843e-01	8	48	0	60	2		0	0	0	0	0	2	1	1	51	276	0	59	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
RDH10	157506	broad.mit.edu	37	8	74234997	74234997	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234997C>T	ENST00000240285.5	+	5	1532	c.854C>T	c.(853-855)cCc>cTc	p.P285L	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P120L	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)			11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		ACTGACCAGCCCATGATCTGC	0.517000																								0							SO:0001583	missense			ENST00000240285.5	1	1	hg19	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790810	0.50102	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.88354	-2.37;0.77	5.55	4.68	0.58851	NAD(P)-binding domain (1);	0.051646	0.85682	D	0.000000	D	0.89022	0.6597	L	0.45285	1.41	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	D	0.87264	0.2281	10	0.28530	T	0.3	.	14.653	0.68811	0.0:0.9306:0.0:0.0694	.	285	Q8IZV5	RDH10_HUMAN	L	285;120	ENSP00000240285:P285L;ENSP00000428132:P120L	ENSP00000240285:P285L	P	+	2	0	RDH10	74397551	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.411000	0.44600	1.589000	0.49982	0.591000	0.81541	CCC		TCGA-IB-7651-01A-11D-2154-08	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1	1	0	1	64	334	0	86	1	9.998704e-01	11	60	0	86	2		0	0	0	0	0	2	1	1	64	321	0	85	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TCEB1	6921	broad.mit.edu	37	8	74859046	74859046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74859046G>A	ENST00000522337.1	-	5	477	c.158C>T	c.(157-159)gCt>gTt	p.A53V	TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)			7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		TTCGTTCTCAGCAAACTGACC	0.373000																								0							SO:0001583	missense			ENST00000522337.1	1	1	hg19	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094949	0.56075	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.14	5.14	0.70334	BTB/POZ fold (2);SKP1 component, POZ (1);	0.137510	0.31188	N	0.008081	T	0.44953	0.1318	L	0.53671	1.685	0.80722	D	1	B	0.15473	0.013	B	0.24848	0.056	T	0.38436	-0.9661	10	0.54805	T	0.06	-3.8739	18.7873	0.91960	0.0:0.0:1.0:0.0	.	53	Q15369	ELOC_HUMAN	V	53;37;53;53;53;53;53;53	ENSP00000428334:A53V;ENSP00000430224:A37V;ENSP00000428171:A53V;ENSP00000429596:A53V;ENSP00000284811:A53V;ENSP00000429906:A53V;ENSP00000428074:A53V;ENSP00000429789:A53V	ENSP00000284811:A53V	A	-	2	0	TCEB1	75021600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.769000	0.91742	2.669000	0.90835	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	1	0	1	26	167	0	39	1	1	187	484	0	39	2		0	0	0	0	0	2	1	9.999999e-01	26	165	0	40	2								-3.323584	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998995	0.990000	1	9.900000e-01	1
LY96	23643	broad.mit.edu	37	8	74922249	74922249	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74922249G>T	ENST00000284818.2	+	3	307	c.216G>T	c.(214-216)aaG>aaT	p.K72N	LY96_ENST00000518893.1_Missense_Mutation_p.K42N	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96			5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		GAGATTTAAAGCAATTATATT	0.318000													GBM(131;1357 1748 34893 50149 52212)											0							SO:0001583	missense			ENST00000284818.2	1	1	hg19	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	G	8.710	0.911873	0.17907	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.42900	0.96;0.96	4.77	-0.413	0.12363	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.986339	0.08275	N	0.970796	T	0.30665	0.0772	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.16722	0.016	T	0.37934	-0.9684	10	0.54805	T	0.06	.	0.6474	0.00821	0.4632:0.1717:0.1992:0.1658	.	72	Q9Y6Y9	LY96_HUMAN	N	72;42	ENSP00000284818:K72N;ENSP00000430533:K42N	ENSP00000284818:K72N	K	+	3	2	LY96	75084803	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.072000	0.11486	-0.141000	0.11374	-0.469000	0.05056	AAG		TCGA-IB-7651-01A-11D-2154-08	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	1	0	1	48	237	0	40	0	9.999999e-01	0	126	0	40	2		0	0	0	0	0	2	1	1	46	232	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
JPH1	56704	broad.mit.edu	37	8	75227606	75227606	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75227606C>T	ENST00000342232.4	-	2	669	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1			24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		CCGGAAGAGGCCGCCCTTCTT	0.657000																								0							SO:0001583	missense			ENST00000342232.4	1	1	hg19	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315710	0.81469	.	.	ENSG00000104369	ENST00000342232	T	0.59772	0.24	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81850	-0.0743	10	0.87932	D	0	.	17.6684	0.88209	0.0:1.0:0.0:0.0	.	210	Q9HDC5	JPH1_HUMAN	D	210	ENSP00000344488:G210D	ENSP00000344488:G210D	G	-	2	0	JPH1	75390161	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.285000	0.78660	2.377000	0.81083	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1	0	0	1	96	480	1	111		0	0	0	1	111	2		0	0	0	0	0	2	1	1	94	474	1	110	18								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GDAP1	54332	broad.mit.edu	37	8	75276322	75276322	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75276322G>T	ENST00000220822.7	+	6	877	c.797G>T	c.(796-798)aGa>aTa	p.R266I	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1			10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		TTTGCAAGGAGAAACTGGGGA	0.478000																								0							SO:0001583	missense			ENST00000220822.7	0	1	hg19	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083547	0.76642	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.97688	-4.49;-4.49	4.99	4.99	0.66335	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.70842	2.15	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	D	0.98190	1.0462	10	0.39692	T	0.17	-12.6828	18.8301	0.92135	0.0:0.0:1.0:0.0	.	266	Q8TB36	GDAP1_HUMAN	I	266;198	ENSP00000220822:R266I;ENSP00000417006:R198I	ENSP00000220822:R266I	R	+	2	0	GDAP1	75438877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.881000	0.63114	2.767000	0.95098	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	0	0	0	8	406	0	92	0	5.450642e-02	0	17	0	92	2		0	0	0	0	0	2	1	9.880692e-01	8	393	0	92	2								-7.454607	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.230000	0.100000	0.420000	0.220000	0.248315	0.230000	0	1.600000e-01	3.300000e-01
PI15	51050	broad.mit.edu	37	8	75756308	75756308	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75756308C>T	ENST00000260113.2	+	3	545	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Silent_p.G122G	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15			30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		GATTTTTGGGCCAAAATCTAT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000260113.2	1	1	hg19	CCDS6218.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	1	0	1	147	810	0	176	0	4.702080e-01	0	10	0	176	2		0	0	0	0	0	2	1	1	144	798	0	172	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRISPLD1	83690	broad.mit.edu	37	8	75898234	75898234	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75898234C>T	ENST00000262207.4	+	2	480	c.12C>T	c.(10-12)acC>acT	p.T4T	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1			43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		TGAAGTGTACCGCGCGGGAGT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000262207.4	1	1	hg19	CCDS6219.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	1	0	1	190	874	0	216	0	9.959376e-01	0	40	0	216	2		0	0	0	0	0	2	1	1	187	854	0	214	2								-2.476616	0	1	121412	1	43	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HNF4G	3174	broad.mit.edu	37	8	76465367	76465367	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76465367C>A	ENST00000354370.1	+	6	709	c.439C>A	c.(439-441)Ctc>Atc	p.L147I	HNF4G_ENST00000396423.2_Missense_Mutation_p.L184I			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma			37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)		GAAACAGCAGCTCTTAGTCTT	0.358000																								0							SO:0001583	missense			ENST00000354370.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	32	5.182110	0.94885	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.97404	-4.37;-4.37	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.121290	0.56097	D	0.000027	D	0.98682	0.9558	M	0.89287	3.02	0.80722	D	1	P;D	0.59357	0.883;0.985	D;D	0.75020	0.949;0.985	D	0.99035	1.0822	9	.	.	.	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	184;147	F1D8Q4;Q14541	.;HNF4G_HUMAN	I	147;184	ENSP00000346339:L147I;ENSP00000379701:L184I	.	L	+	1	0	HNF4G	76627922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.247000	0.78257	2.805000	0.96524	0.655000	0.94253	CTC		TCGA-IB-7651-01A-11D-2154-08	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	1	0	1	70	325	0	83	1	9.675449e-01	6	22	0	83	2		0	0	0	0	0	2	1	1	69	316	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFHX4	79776	broad.mit.edu	37	8	77616625	77616625	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77616625C>A	ENST00000521891.2	+	2	750	c.302C>A	c.(301-303)cCt>cAt	p.P101H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		CACCACTGCCCTAATGCCCGC	0.498000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433634	0.62955	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.43	5.43	0.79202	.	0.000000	0.44285	U	0.000473	T	0.54806	0.1881	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.57797	-0.7749	10	0.87932	D	0	.	19.4356	0.94792	0.0:1.0:0.0:0.0	.	101;101;101;101	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	101	ENSP00000430497:P101H;ENSP00000399605:P101H;ENSP00000050961:P101H;ENSP00000428525:P101H;ENSP00000429495:P101H;ENSP00000427775:P101H;ENSP00000427739:P101H;ENSP00000430848:P101H	ENSP00000050961:P101H	P	+	2	0	ZFHX4	77779180	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.293000	0.78740	2.826000	0.97356	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	149	680	0	187	0	8.632436e-02	0	2	0	187	2		0	0	0	0	0	2	1	1	145	669	0	185	2								-2.632359	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFHX4	79776	broad.mit.edu	37	8	77618294	77618294	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618294G>T	ENST00000521891.2	+	2	2419	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		AATATCAGCAGACCCTGGAGG	0.507000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	0	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320144	0.23994	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53857	0.63;0.64;0.61;0.6	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.42294	U	0.000722	T	0.70937	0.3281	L	0.58302	1.8	0.80722	D	1	D;D;D;P	0.76494	0.998;0.999;0.999;0.86	D;D;D;P	0.85130	0.993;0.997;0.997;0.8	T	0.72620	-0.4238	10	0.87932	D	0	.	19.15	0.93483	0.0:0.0:1.0:0.0	.	657;657;657;657	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	657	ENSP00000430497:Q657H;ENSP00000399605:Q657H;ENSP00000050961:Q657H;ENSP00000430848:Q657H	ENSP00000050961:Q657H	Q	+	3	2	ZFHX4	77780849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.482000	0.66833	2.750000	0.94351	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	0	0	7	233	0	56	0	1.127343e-02	0	5	0	56	2		0	0	0	0	0	2	1	9.779378e-01	6	224	0	56	2								-8.650413	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.350000	0.150000	0.640000	0.330000	0.375904	0.350000	0	2.400000e-01	5.000000e-01
ZFHX4	79776	broad.mit.edu	37	8	77618747	77618747	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618747T>C	ENST00000521891.2	+	2	2872	c.2424T>C	c.(2422-2424)aaT>aaC	p.N808N	ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000455469.2_Silent_p.N808N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		TCCAGCATAATCTGCACTTGG	0.507000										HNSCC(33;0.089)														0							SO:0001819	synonymous_variant			ENST00000521891.2	1	1	hg19	CCDS47878.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	16	85	0	25	0	7.402032e-02	0	3	0	25	2		0	0	0	0	0	2	1	9.999550e-01	16	84	0	24	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.998512	0.990000	1	9.900000e-01	1
ZFHX4	79776	broad.mit.edu	37	8	77762534	77762534	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77762534C>A	ENST00000521891.2	+	9	4348	c.3900C>A	c.(3898-3900)gcC>gcA	p.A1300A	ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000050961.6_Silent_p.A1255A|ZFHX4_ENST00000455469.2_Silent_p.A1255A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		CAGCAGCTGCCTCTGAGAAAT	0.478000										HNSCC(33;0.089)														0							SO:0001819	synonymous_variant			ENST00000521891.2	1	1	hg19	CCDS47878.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	20	92	0	23	0	3.524027e-02	0	2	0	23	2		0	0	0	0	0	2	1	9.999974e-01	20	91	0	23	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999796	0.990000	1	9.900000e-01	1
ZFHX4	79776	broad.mit.edu	37	8	77763508	77763508	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77763508C>A	ENST00000521891.2	+	10	4799	c.4351C>A	c.(4351-4353)Ctg>Atg	p.L1451M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		CCACCCTGAACTGAGTGAAGC	0.502000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161838	0.38217	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56275	0.48;0.52;0.47;0.49	5.01	3.12	0.35913	Zinc finger, C2H2 (1);	0.000000	0.35615	U	0.003097	T	0.62466	0.2430	L	0.50333	1.59	0.48901	D	0.999721	D;D;D	0.76494	0.989;0.999;0.994	P;D;P	0.66979	0.786;0.948;0.894	T	0.64972	-0.6281	10	0.72032	D	0.01	.	10.7432	0.46166	0.0:0.7962:0.1309:0.0729	.	1406;1406;1451	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	1451;1451;1406;1406;1425	ENSP00000430497:L1451M;ENSP00000399605:L1406M;ENSP00000050961:L1406M;ENSP00000430848:L1425M	ENSP00000050961:L1406M	L	+	1	2	ZFHX4	77926063	1.000000	0.71417	0.977000	0.42913	0.822000	0.46500	5.927000	0.70080	1.313000	0.45069	0.549000	0.68633	CTG		TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	30	108	0	33	0	3.079126e-01	0	5	0	33	2		0	0	0	0	0	2	1	1	29	106	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZFHX4	79776	broad.mit.edu	37	8	77764149	77764149	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764149T>A	ENST00000521891.2	+	10	5440	c.4992T>A	c.(4990-4992)caT>caA	p.H1664Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		AAGATACCCATTTAGATGCCA	0.448000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410196	0.25465	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46063	0.88;0.93;0.9;0.89	4.41	2.47	0.30058	.	0.000000	0.46442	U	0.000296	T	0.26195	0.0639	L	0.44542	1.39	0.37302	D	0.908734	B;B;B	0.29508	0.159;0.246;0.246	B;B;B	0.26416	0.031;0.069;0.069	T	0.07731	-1.0757	10	0.13470	T	0.59	.	4.5736	0.12223	0.0:0.4457:0.0:0.5543	.	1619;1619;1664	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1664;1664;1619;1619;1638	ENSP00000430497:H1664Q;ENSP00000399605:H1619Q;ENSP00000050961:H1619Q;ENSP00000430848:H1638Q	ENSP00000050961:H1619Q	H	+	3	2	ZFHX4	77926704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.937000	0.28951	1.104000	0.41587	0.443000	0.29094	CAT		TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	40	352	0	75	0	3.079117e-02	0	3	0	75	2		0	0	0	0	0	2	1	1	39	344	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.860000	1.000000	1.000000	0.989855	0.990000	1	9.900000e-01	1
ZFHX4	79776	broad.mit.edu	37	8	77764883	77764883	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764883C>A	ENST00000521891.2	+	10	6174	c.5726C>A	c.(5725-5727)gCc>gAc	p.A1909D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		GGAAATGCTGCCAAAGCGTTA	0.458000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279827	0.59758	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.68;0.64;0.63	4.71	4.71	0.59529	.	0.000000	0.41823	U	0.000808	T	0.54598	0.1868	M	0.68952	2.095	0.80722	D	1	P;P;P	0.51351	0.906;0.944;0.944	B;P;P	0.47573	0.348;0.55;0.55	T	0.54820	-0.8236	10	0.32370	T	0.25	.	18.2749	0.90080	0.0:1.0:0.0:0.0	.	1864;1864;1909	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	1909;1909;1864;1864;1883	ENSP00000430497:A1909D;ENSP00000399605:A1864D;ENSP00000050961:A1864D;ENSP00000430848:A1883D	ENSP00000050961:A1864D	A	+	2	0	ZFHX4	77927438	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.594000	0.82698	2.631000	0.89168	0.632000	0.83419	GCC		TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	18	94	0	29	0	5.594240e-01	0	11	0	29	2		0	0	0	0	0	2	1	9.999867e-01	18	91	0	29	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999179	0.990000	1	9.900000e-01	1
ZFHX4	79776	broad.mit.edu	37	8	77766811	77766811	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77766811C>A	ENST00000521891.2	+	10	8102	c.7654C>A	c.(7654-7656)Ctg>Atg	p.L2552M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		TGGACAACTGCTGGGCAGTTC	0.517000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885405	0.33255	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58358	0.34;0.4;0.37;0.37	5.38	5.38	0.77491	.	0.000000	0.36628	U	0.002491	T	0.72748	0.3499	M	0.71581	2.175	0.54753	D	0.999984	D;D;P	0.69078	0.994;0.997;0.864	D;D;P	0.75484	0.98;0.986;0.706	T	0.72204	-0.4361	10	0.49607	T	0.09	.	19.3233	0.94252	0.0:1.0:0.0:0.0	.	2507;2507;2552	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	2552;2536;2507;2507;2526	ENSP00000430497:L2552M;ENSP00000399605:L2507M;ENSP00000050961:L2507M;ENSP00000430848:L2526M	ENSP00000050961:L2507M	L	+	1	2	ZFHX4	77929366	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.780000	0.68956	2.791000	0.96007	0.650000	0.86243	CTG		TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	0	0	13	480	0	109	0	1.176998e-02	0	6	0	109	2		0	0	0	0	0	2	1	9.994487e-01	13	466	0	109	2								-11.400400	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.310000	0.170000	0.500000	0.300000	0.325286	0.310000	0	2.300000e-01	4.100000e-01
ZFHX4	79776	broad.mit.edu	37	8	77768068	77768068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77768068C>T	ENST00000521891.2	+	10	9359	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	p.R2955C(1)		432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		TCTGCCCAAACGCGTAGTCCA	0.433000										HNSCC(33;0.089)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122163	0.56613	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.43416	U	0.000569	D	0.98611	0.9535	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.99478	1.0947	10	0.87932	D	0	.	18.8924	0.92410	0.0:1.0:0.0:0.0	.	2926;2926;2971	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2971;2955;2926;2926;2945	ENSP00000430497:R2971C;ENSP00000399605:R2926C;ENSP00000050961:R2926C;ENSP00000430848:R2945C	ENSP00000050961:R2926C	R	+	1	0	ZFHX4	77930623	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.780000	0.68956	2.696000	0.92011	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	25	171	0	50	0	2.841814e-01	0	8	0	50	2		0	0	0	0	0	2	1	9.999999e-01	25	171	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.980000	1.000000	1.000000	0.997870	0.990000	1	9.900000e-01	1
IL7	3574	broad.mit.edu	37	8	79652256	79652256	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79652256T>C	ENST00000263851.4	-	3	809	c.209A>G	c.(208-210)cAt>cGt	p.H70R	IL7_ENST00000541183.1_Missense_Mutation_p.H19R|IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Missense_Mutation_p.H70R	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7			5					ATCACAGATATGTCTTTTAAA	0.274000																								0							SO:0001583	missense			ENST00000263851.4	1	1	hg19	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965768	0.53507	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.47177	0.85;0.85;0.85	5.02	5.02	0.67125	.	0.381500	0.22540	N	0.058737	T	0.51449	0.1675	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.984;0.997	P;P	0.61070	0.883;0.865	T	0.45264	-0.9273	9	.	.	.	.	11.3049	0.49329	0.0:0.0:0.0:1.0	.	70;70	P13232;Q5FBY9	IL7_HUMAN;.	R	70;70;67;19	ENSP00000263851:H70R;ENSP00000427750:H70R;ENSP00000438922:H19R	.	H	-	2	0	IL7	79814811	1.000000	0.71417	0.989000	0.46669	0.580000	0.36256	3.252000	0.51461	2.234000	0.73211	0.460000	0.39030	CAT		TCGA-IB-7651-01A-11D-2154-08	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1	1	0	1	21	87	0	30	1	8.408286e-01	5	11	0	30	2		0	0	0	0	0	2	1	9.999984e-01	21	83	0	30	2								-14.958310	1	1	121302	2	27	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
STMN2	11075	broad.mit.edu	37	8	80549083	80549083	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:80549083C>T	ENST00000220876.7	+	2	448	c.66C>T	c.(64-66)tgC>tgT	p.C22C	STMN2_ENST00000518111.1_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2			11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)		CACTGATCTGCTCTTGCTTTT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000220876.7	1	1	hg19	CCDS43748.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	1	0	1	77	351	0	63	1	9.999966e-01	2	83	0	63	2		0	0	0	0	0	2	1	1	77	342	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF704	619279	broad.mit.edu	37	8	81599496	81599496	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81599496G>A	ENST00000327835.3	-	4	754	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704			11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		TCGAAGAGCAGGTTGCTGGCC	0.632000											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000327835.3	1	1	hg19	CCDS34913.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	1	0	1	49	424	0	95	0	7.060139e-01	0	23	0	95	2		0	0	0	0	0	2	1	1	48	419	0	94	2								-16.500140	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.900000	1.000000	1.000000	0.994113	0.990000	1	9.900000e-01	1
SGK223	0	broad.mit.edu	37	8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN									CCCGGGCTCCGCAGACGCCAG	0.647000													GBM(34;731 755 10259 33573 33867)											0							SO:0001583	missense			ENST00000520004.1	1	1	hg19	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190369	0.78789	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14516	2.5;2.5	5.48	5.48	0.80851	.	0.054657	0.64402	D	0.000001	T	0.34948	0.0915	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01613	-1.1312	10	0.87932	D	0	.	18.7301	0.91731	0.0:0.0:1.0:0.0	.	1387	Q86YV5	SG223_HUMAN	V	1387	ENSP00000330930:A1387V;ENSP00000428054:A1387V	ENSP00000330930:A1387V	A	-	2	0	AC068353.1	8213135	1.000000	0.71417	0.163000	0.22734	0.480000	0.33159	9.825000	0.99386	2.748000	0.94277	0.462000	0.41574	GCG		TCGA-IB-7651-01A-11D-2154-08	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1	1	0	0	92	363	0	77	1	1	37	101	0	77	2		0	0	0	0	0	2	1	1	92	361	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGK223	0	broad.mit.edu	37	8	8175943	8175943	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175943G>T	ENST00000520004.1	-	6	4206	c.3942C>A	c.(3940-3942)atC>atA	p.I1314I	SGK223_ENST00000330777.4_Silent_p.I1314I			Q86YV5	SG223_HUMAN									TGGCCTCGCCGATGCGGATAC	0.716000													GBM(34;731 755 10259 33573 33867)											0							SO:0001819	synonymous_variant			ENST00000520004.1	1	1	hg19	CCDS43706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1	1	0	0	74	316	0	63	1	9.981735e-01	11	32	0	63	2		0	0	0	0	0	2	1	1	72	313	0	61	2								-3.488562	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAG1	55824	broad.mit.edu	37	8	81889134	81889134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81889134G>T	ENST00000220597.4	-	9	1654	c.944C>A	c.(943-945)gCt>gAt	p.A315D	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1			11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		TGAGTACATAGCTGAGATCTA	0.473000																								0							SO:0001583	missense			ENST00000220597.4	1	1	hg19	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827193	0.90955	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.53	5.53	0.82687	.	0.119572	0.56097	D	0.000027	T	0.77329	0.4114	M	0.67953	2.075	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.71813	-0.4479	9	0.20519	T	0.43	-15.1381	19.0444	0.93013	0.0:0.0:1.0:0.0	.	315	Q9NWQ8	PAG1_HUMAN	D	315	.	ENSP00000220597:A315D	A	-	2	0	PAG1	82051689	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.973000	0.76116	2.604000	0.88044	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	1	0	1	86	363	0	79	0	9.935580e-01	0	35	0	79	2		0	0	0	0	0	2	1	1	83	358	0	78	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SGK223	0	broad.mit.edu	37	8	8197103	8197103	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8197103G>A	ENST00000520004.1	-	4	2469	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	SGK223_ENST00000330777.4_Silent_p.S735S			Q86YV5	SG223_HUMAN									CAGAGCCCTGGCTCACTTTTT	0.502000													GBM(34;731 755 10259 33573 33867)											0							SO:0001819	synonymous_variant			ENST00000520004.1	1	1	hg19	CCDS43706.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1	0	0	0	15	409	0	61	1	7.526104e-01	2	73	0	61	2		0	0	0	0	0	2	1	9.998628e-01	15	403	0	61	2								-3.254771	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.410000	0.240000	0.640000	0.410000	0.431214	0.410000	0	3.200000e-01	5.300000e-01
FABP9	646480	broad.mit.edu	37	8	82370890	82370890	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82370890G>T	ENST00000379071.2	-	3	350	c.295C>A	c.(295-297)Ctt>Att	p.L99I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis			6			Epithelial(68;0.186)		TCTTTGCCAAGCCATTTTTGG	0.328000																								0							SO:0001583	missense			ENST00000379071.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643769	0.29246	.	.	ENSG00000205186	ENST00000379071	T	0.07800	3.16	5.28	4.41	0.53225	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.181563	0.45606	D	0.000357	T	0.06554	0.0168	N	0.22421	0.69	0.27626	N	0.94819	B	0.06786	0.001	B	0.19148	0.024	T	0.18304	-1.0341	10	0.87932	D	0	.	8.8977	0.35474	0.0:0.1633:0.6672:0.1695	.	99	Q0Z7S8	FABP9_HUMAN	I	99	ENSP00000368362:L99I	ENSP00000368362:L99I	L	-	1	0	FABP9	82533445	0.998000	0.40836	0.992000	0.48379	0.537000	0.34900	1.881000	0.39638	1.459000	0.47892	-0.152000	0.13540	CTT		TCGA-IB-7651-01A-11D-2154-08	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	1	0	0	13	268	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.995122e-01	13	263	0	60	2								-4.205563	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.540000	0.300000	0.860000	0.530000	0.563994	0.540000	0	4.100000e-01	7.000000e-01
FABP4	2167	broad.mit.edu	37	8	82391667	82391667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82391667C>A	ENST00000256104.4	-	3	425	c.330G>T	c.(328-330)gaG>gaT	p.E110D	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte			6			Epithelial(68;0.213)		GTTTATCATCCTCTCGTTTTC	0.403000													NSCLC(35;550 1252 19644 48360)											0							SO:0001583	missense			ENST00000256104.4	1	1	hg19	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	9.214	1.031752	0.19590	.	.	ENSG00000170323	ENST00000256104	T	0.08458	3.09	5.56	3.71	0.42584	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.477666	0.24683	N	0.036444	T	0.03520	0.0101	N	0.08118	0	0.33815	D	0.628387	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.13853	T	0.58	.	5.3675	0.16121	0.1482:0.6352:0.0:0.2166	.	110	P15090	FABP4_HUMAN	D	110	ENSP00000256104:E110D	ENSP00000256104:E110D	E	-	3	2	FABP4	82554222	0.567000	0.26626	1.000000	0.80357	0.961000	0.63080	-0.082000	0.11304	0.779000	0.33543	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	1	0	1	50	265	0	69	0	3.126711e-01	0	7	0	69	2		0	0	0	0	0	2	1	1	47	260	0	68	2								-3.032930	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SLC10A5	347051	broad.mit.edu	37	8	82606167	82606167	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606167A>G	ENST00000518568.1	-	1	2242	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5			15					CAAACAGCAAACCCAAAGCAG	0.383000																								0							SO:0001819	synonymous_variant			ENST00000518568.1	1	1	hg19	CCDS34915.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	1	0	1	64	248	0	56	0	4.309825e-02	0	2	0	56	2		0	0	0	0	0	2	1	1	59	242	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC10A5	347051	broad.mit.edu	37	8	82606769	82606769	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606769T>C	ENST00000518568.1	-	1	1640	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5			15					AGTGGTAAAATAAGCATTAGG	0.343000																								0							SO:0001583	missense			ENST00000518568.1	1	1	hg19	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	3.831	-0.035759	0.07497	.	.	ENSG00000253598	ENST00000518568	T	0.08546	3.08	6.17	-2.11	0.07187	.	0.780519	0.11152	N	0.594054	T	0.02533	0.0077	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.08055	0.003	T	0.44314	-0.9336	10	0.07990	T	0.79	-2.728	0.1022	0.00049	0.2512:0.2181:0.2353:0.2954	.	147	Q5PT55	NTCP5_HUMAN	V	147	ENSP00000428612:I147V	ENSP00000428612:I147V	I	-	1	0	SLC10A5	82769324	0.744000	0.28250	0.157000	0.22605	0.064000	0.16182	-0.299000	0.08254	-0.588000	0.05882	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	1	0	1	68	303	0	72	0	3.462316e-02	0	2	0	72	2		0	0	0	0	0	2	1	1	66	301	0	70	2								-20.000000	1	0	121412	1	31	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC10A5	347051	broad.mit.edu	37	8	82606840	82606840	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606840A>G	ENST00000518568.1	-	1	1569	c.368T>C	c.(367-369)gTc>gCc	p.V123A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5			15					GAGCACTTTGACTTTCACATT	0.358000																								0							SO:0001583	missense			ENST00000518568.1	1	1	hg19	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546548	0.45383	.	.	ENSG00000253598	ENST00000518568	T	0.09538	2.97	6.17	5.01	0.66863	.	0.674660	0.12872	N	0.432189	T	0.07279	0.0184	L	0.27053	0.805	0.25180	N	0.990217	P	0.42871	0.792	B	0.35182	0.197	T	0.24012	-1.0172	10	0.28530	T	0.3	-6.5206	9.4185	0.38536	0.9187:0.0:0.0813:0.0	.	123	Q5PT55	NTCP5_HUMAN	A	123	ENSP00000428612:V123A	ENSP00000428612:V123A	V	-	2	0	SLC10A5	82769395	0.970000	0.33590	0.996000	0.52242	0.901000	0.52897	3.086000	0.50159	2.371000	0.80710	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	1	0	1	68	347	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	68	339	0	98	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFAND1	79752	broad.mit.edu	37	8	82615252	82615252	+	Silent	SNP	G	G	A	rs142017081	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82615252G>A	ENST00000220669.5	-	7	606	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZFAND1_ENST00000517588.1_Silent_p.A89A|ZFAND1_ENST00000519523.1_Silent_p.A196A|ZFAND1_ENST00000521895.1_Silent_p.A89A|ZFAND1_ENST00000522520.1_Silent_p.A89A|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000521287.1_Silent_p.A89A|ZFAND1_ENST00000523096.1_Silent_p.A189A	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1			13					CTAGAGAAGCGGCAAAGTCTA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000220669.5	0	0	hg19	CCDS6232.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	1	0	1	22	83	0	12	1	1	37	117	0	12	2		0	0	0	0	0	2	1	9.999994e-01	21	82	0	12	2								-20.000000	1	0	121374	19	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
SNX16	64089	broad.mit.edu	37	8	82714673	82714673	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82714673G>A	ENST00000345957.4	-	7	1158	c.880C>T	c.(880-882)Cta>Tta	p.L294L	SNX16_ENST00000353788.4_Silent_p.L265L|SNX16_ENST00000396330.2_Silent_p.L294L|RP13-923O23.6_ENST00000524337.1_RNA	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16			5					TCCACCTTTAGGATCTGTTCA	0.338000																								0							SO:0001819	synonymous_variant			ENST00000345957.4	0	1	hg19	CCDS6234.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	0	0	0	6	196	0	36	1	5.374554e-01	3	52	0	36	2		0	0	0	0	0	2	1	9.634541e-01	6	192	0	36	2								-3.034842	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.360000	0.150000	0.690000	0.340000	0.388522	0.360000	0	2.400000e-01	5.200000e-01
LRRCC1	85444	broad.mit.edu	37	8	86042165	86042165	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042165C>A	ENST00000360375.3	+	11	1787	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	LRRCC1_ENST00000414626.2_Silent_p.I526I	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1			43					TAAGACTGATCCAAGAGGTGG	0.363000																								0							SO:0001819	synonymous_variant			ENST00000360375.3	1	1	hg19	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	6.180	0.401444	0.11696	.	.	ENSG00000133739	ENST00000426019	.	.	.	5.27	1.93	0.25924	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10660	-1.0620	5	0.21014	T	0.42	-0.2633	5.4284	0.16440	0.0:0.3821:0.1529:0.465	.	.	.	.	T	266	.	ENSP00000400370:P266T	P	+	1	0	LRRCC1	86229417	0.954000	0.32549	0.949000	0.38748	0.763000	0.43281	0.082000	0.14847	0.158000	0.19367	-0.345000	0.07892	CCA		TCGA-IB-7651-01A-11D-2154-08	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	1	0	0	87	427	0	95	1	9.968947e-01	13	32	0	95	2		0	0	0	0	0	2	1	1	85	420	0	95	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRRCC1	85444	broad.mit.edu	37	8	86042196	86042196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042196G>A	ENST00000360375.3	+	11	1818	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D537N	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1			43					TTCAGCTGCCGATAGAGAAAT	0.373000																								0							SO:0001583	missense			ENST00000360375.3	1	1	hg19	CCDS43750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.982000|2.982000	0.53827|0.53827	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375;ENST00000414626|ENST00000426019	T;T|.	0.30981|.	1.51;1.51|.	5.21|5.21	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.37348|.	N|.	0.002140|.	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.29908|0.29908	0.895|0.895	0.28037|0.28037	N|N	0.93392|0.93392	D;P;D;P|.	0.62365|.	0.974;0.954;0.991;0.743|.	B;B;P;B|.	0.46299|.	0.288;0.441;0.511;0.08|.	T|T	0.36529|0.36529	-0.9744|-0.9744	10|6	0.48119|0.87932	T|D	0.1|0	-23.6791|-23.6791	11.1003|11.1003	0.48170|0.48170	0.0:0.1393:0.7159:0.1448|0.0:0.1393:0.7159:0.1448	.|.	464;537;464;557|.	B4DV06;Q9C099-2;E9PE41;Q9C099|.	.;.;.;LRCC1_HUMAN|.	N|Q	557;537|276	ENSP00000353538:D557N;ENSP00000394695:D537N|.	ENSP00000353538:D557N|ENSP00000400370:R276Q	D|R	+|+	1|2	0|0	LRRCC1|LRRCC1	86229448|86229448	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	3.832000|3.832000	0.55783|0.55783	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	GAT|CGA		TCGA-IB-7651-01A-11D-2154-08	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	1	0	0	42	467	0	101	1	8.768868e-01	4	39	0	101	2		0	0	0	0	0	2	1	1	42	455	0	101	2								-3.318793	1	0	120804	1	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.950000	0.700000	1.000000	1.000000	0.925915	0.950000	1	8.200000e-01	1
E2F5	1875	broad.mit.edu	37	8	86115389	86115389	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115389T>C	ENST00000416274.2	+	3	439	c.405T>C	c.(403-405)gcT>gcC	p.A135A	E2F5_ENST00000418930.2_Silent_p.A135A|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.A135A	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding			8					ATCTTAAAGCTGAAATTGAAG	0.338000																								0							SO:0001819	synonymous_variant			ENST00000416274.2	1	1	hg19	CCDS47885.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	1	0	1	13	96	0	30	1	9.053019e-01	9	24	0	30	2		0	0	0	0	0	2	1	9.995728e-01	13	93	0	30	2								-8.249835	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.770000	1.000000	1.000000	0.983400	0.990000	1	9.900000e-01	1
E2F5	1875	broad.mit.edu	37	8	86115478	86115478	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115478C>A	ENST00000416274.2	+	3	528	c.494C>A	c.(493-495)tCc>tAc	p.S165Y	E2F5_ENST00000418930.2_Missense_Mutation_p.S165Y|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding			8					ATGGACGATTCCATTAATAAT	0.303000																								0							SO:0001583	missense			ENST00000416274.2	1	1	hg19	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468270	0.63625	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.55	5.55	0.83447	.	0.050297	0.85682	D	0.000000	D	0.88890	0.6560	M	0.69823	2.125	0.80722	D	1	P;P	0.48089	0.905;0.847	P;B	0.49085	0.6;0.284	D	0.89516	0.3775	10	0.59425	D	0.04	-2.4367	19.4996	0.95089	0.0:1.0:0.0:0.0	.	165;165	Q15329-2;Q15329	.;E2F5_HUMAN	Y	165;165;165;4	ENSP00000414312:S165Y;ENSP00000256117:S165Y;ENSP00000398124:S165Y;ENSP00000429120:S4Y	ENSP00000256117:S165Y	S	+	2	0	E2F5	86302730	0.983000	0.35010	1.000000	0.80357	0.926000	0.56050	7.718000	0.84743	2.606000	0.88127	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	1	0	1	23	95	0	37	1	8.647960e-01	2	15	0	37	2		0	0	0	0	0	2	1	9.999997e-01	23	95	0	37	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
E2F5	1875	broad.mit.edu	37	8	86121474	86121474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121474C>A	ENST00000416274.2	+	6	747	c.713C>A	c.(712-714)cCc>cAc	p.P238H	E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H|E2F5_ENST00000418930.2_Missense_Mutation_p.P238H|E2F5_ENST00000521429.1_Missense_Mutation_p.P65H	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding			8					TCATCTAAGCCCGTGGTTTTT	0.453000																								0							SO:0001583	missense			ENST00000416274.2	1	1	hg19	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460149	0.84317	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	6.13	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.99	D	0.95449	0.8532	10	0.59425	D	0.04	-17.471	17.581	0.87968	0.0:0.8765:0.1234:0.0	.	65;238;238	E5RHD4;Q15329-2;Q15329	.;.;E2F5_HUMAN	H	238;239;238;77;65;74	ENSP00000414312:P238H;ENSP00000256117:P239H;ENSP00000398124:P238H;ENSP00000429120:P77H;ENSP00000428606:P65H;ENSP00000429669:P74H	ENSP00000256117:P239H	P	+	2	0	E2F5	86308726	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.483000	0.81158	1.601000	0.50113	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	1	0	1	39	247	0	59	1	9.887137e-01	8	39	0	59	2		0	0	0	0	0	2	1	1	38	243	0	59	2								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999864	0.990000	1	9.900000e-01	1
E2F5	1875	broad.mit.edu	37	8	86121509	86121509	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121509A>G	ENST00000416274.2	+	6	782	c.748A>G	c.(748-750)Aca>Gca	p.T250A	E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A|E2F5_ENST00000418930.2_Missense_Mutation_p.T250A|E2F5_ENST00000521429.1_Missense_Mutation_p.T77A	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding			8					TGATGACCTCACACAGCCTTC	0.483000																								0							SO:0001583	missense			ENST00000416274.2	1	1	hg19	CCDS47885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.274|4.274	0.050017|0.050017	0.08243|0.08243	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000520225|ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	.|D;D;D;D;D;D	.|0.86562	.|-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	6.13|6.13	4.98|4.98	0.66077|0.66077	.|.	.|0.486351	.|0.24282	.|N	.|0.039882	T|T	0.73923|0.73923	0.3649|0.3649	N|N	0.20986|0.20986	0.625|0.625	0.33317|0.33317	D|D	0.566848|0.566848	.|B;B;B	.|0.06786	.|0.001;0.001;0.0	.|B;B;B	.|0.10450	.|0.001;0.005;0.002	T|T	0.66232|0.66232	-0.5975|-0.5975	5|10	.|0.08179	.|T	.|0.78	-13.1823|-13.1823	6.1664|6.1664	0.20392|0.20392	0.715:0.138:0.147:0.0|0.715:0.138:0.147:0.0	.|.	.|77;250;250	.|E5RHD4;Q15329-2;Q15329	.|.;.;E2F5_HUMAN	R|A	21|250;251;250;89;77;86	.|ENSP00000414312:T250A;ENSP00000256117:T251A;ENSP00000398124:T250A;ENSP00000429120:T89A;ENSP00000428606:T77A;ENSP00000429669:T86A	.|ENSP00000256117:T251A	H|T	+|+	2|1	0|0	E2F5|E2F5	86308761|86308761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	2.170000|2.170000	0.42443|0.42443	1.155000|1.155000	0.42497|0.42497	0.529000|0.529000	0.55759|0.55759	CAC|ACA		TCGA-IB-7651-01A-11D-2154-08	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	0	0	1	37	237	0	59	1	9.976545e-01	15	45	0	59	2		0	0	0	0	0	2	1	1	35	229	0	57	2								-17.244980	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999790	0.990000	1	9.900000e-01	1
CA3	761	broad.mit.edu	37	8	86352068	86352068	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86352068C>A	ENST00000285381.2	+	2	245	c.162C>A	c.(160-162)ggC>ggA	p.G54G	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific			23				Acetazolamide(DB00819)|Zonisamide(DB00909)	ATGATGGTGGCTCTGCCAAGA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000285381.2	1	1	hg19	CCDS6238.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	1	0	1	64	289	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1	65	286	0	60	2								-3.416997	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MFHAS1	9258	broad.mit.edu	37	8	8654933	8654933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8654933G>A	ENST00000276282.6	-	2	3653	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1			21		Hepatocellular(245;0.217)			ACATTTACTCGCTCGCTGCCG	0.572000													Melanoma(103;1201 2045 17515 28966)											0							SO:0001587	stop_gained			ENST00000276282.6	0	1	hg19	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	47	13.657551	0.99755	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.73	3.86	0.44501	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	14.1014	0.65059	0.0:0.0:0.7402:0.2598	.	.	.	.	X	1023	.	ENSP00000276282:R1023X	R	-	1	2	MFHAS1	8692343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.290000	0.78711	0.705000	0.31890	0.551000	0.68910	CGA		TCGA-IB-7651-01A-11D-2154-08	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	1	0	1	37	177	0	46	1	9.999778e-01	3	79	0	46	2		0	0	0	0	0	2	1	1	36	173	0	45	2								-20.000000	1	1	121412	1	30	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SLC7A13	157724	broad.mit.edu	37	8	87229945	87229945	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87229945C>T	ENST00000297524.3	-	3	1036	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.S302S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13			45					ATATTGGTCTCGATGATTTAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000297524.3	1	1	hg19	CCDS34917.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	1	0	1	109	571	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	1	108	560	0	122	2								-3.144633	1	1	121408	5	40	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC7A13	157724	broad.mit.edu	37	8	87242497	87242497	+	Missense_Mutation	SNP	C	C	T	rs146811954	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87242497C>T	ENST00000297524.3	-	1	113	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13			45					ATTTTCTCCCCTCTATCCATT	0.358000																								0							SO:0001583	missense			ENST00000297524.3	1	1	hg19	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	5.510	0.279145	0.10458	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90676	-2.42;-2.71	3.63	-0.275	0.12906	.	1.394900	0.04747	N	0.423834	D	0.85561	0.5725	L	0.46819	1.47	0.09310	N	1	P;B	0.35542	0.508;0.025	B;B	0.31290	0.127;0.01	T	0.72646	-0.4230	10	0.41790	T	0.15	.	6.6284	0.22843	0.0:0.568:0.0:0.432	.	4;4	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	R	4	ENSP00000297524:G4R;ENSP00000410982:G4R	ENSP00000297524:G4R	G	-	1	0	SLC7A13	87311613	0.131000	0.22433	0.001000	0.08648	0.352000	0.29268	1.084000	0.30828	-0.075000	0.12798	0.609000	0.83330	GGG		TCGA-IB-7651-01A-11D-2154-08	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	1	0	0	25	312	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	9.999998e-01	25	307	0	61	2								-2.920853	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.860000	0.570000	1.000000	1.000000	0.853878	0.860000	1	7.000000e-01	1
WWP1	11059	broad.mit.edu	37	8	87393071	87393071	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87393071A>C	ENST00000517970.1	+	4	494	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q	WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1			31					TTCTAATCCAAAATGGGATGA	0.318000																								0							SO:0001583	missense			ENST00000517970.1	1	1	hg19	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691670	0.48097	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.69435	-0.4;-0.4;-0.4	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056242	0.64402	D	0.000001	T	0.74997	0.3790	L	0.40543	1.245	0.80722	D	1	D	0.63046	0.992	D	0.71414	0.973	T	0.74805	-0.3540	10	0.42905	T	0.14	.	15.9348	0.79694	1.0:0.0:0.0:0.0	.	63	Q9H0M0	WWP1_HUMAN	Q	63	ENSP00000427793:K63Q;ENSP00000265428:K63Q;ENSP00000340564:K63Q	ENSP00000265428:K63Q	K	+	1	0	WWP1	87462187	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.237000	0.89807	2.153000	0.67306	0.482000	0.46254	AAA		TCGA-IB-7651-01A-11D-2154-08	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	1	0	1	28	126	0	35	1	1	70	116	0	35	2		0	0	0	0	0	2	1	1	28	121	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
CPNE3	8895	broad.mit.edu	37	8	87549859	87549859	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87549859G>T	ENST00000521271.1	+	7	690	c.528G>T	c.(526-528)atG>atT	p.M176I	CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III			23					ACTGGCTAATGGTTCATCGGA	0.328000																								0							SO:0001583	missense			ENST00000521271.1	1	1	hg19	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809466	0.31961	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	T;T;T	0.38077	1.16;1.16;1.16	5.63	5.63	0.86233	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.089993	0.85682	D	0.000000	T	0.22742	0.0549	N	0.16166	0.38	0.53688	D	0.999978	B	0.02656	0.0	B	0.04013	0.001	T	0.06789	-1.0807	10	0.22706	T	0.39	-23.7135	13.9088	0.63853	0.0727:0.0:0.9273:0.0	.	176	O75131	CPNE3_HUMAN	I	176	ENSP00000198765:M176I;ENSP00000430934:M176I;ENSP00000427791:M176I	ENSP00000198765:M176I	M	+	3	0	CPNE3	87618975	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.463000	0.66712	2.644000	0.89710	0.655000	0.94253	ATG		TCGA-IB-7651-01A-11D-2154-08	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1	1	0	1	84	342	0	85	1	1	60	209	0	85	2		0	0	0	0	0	2	1	1	83	337	0	85	2								-3.411447	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERI1	90459	broad.mit.edu	37	8	8875870	8875870	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8875870T>C	ENST00000523898.1	+	6	1325	c.646T>C	c.(646-648)Ttg>Ctg	p.L216L	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Silent_p.L216L|ERI1_ENST00000519292.1_Silent_p.L216L			Q8IV48	ERI1_HUMAN	exoribonuclease 1			11					CTGGATGAAATTGAAGGAATT	0.294000																								0							SO:0001819	synonymous_variant			ENST00000523898.1	1	1	hg19	CCDS5972.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	1	0	1	46	153	0	36	1	9.999986e-01	21	52	0	36	2		0	0	0	0	0	2	1	1	46	150	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF4L2	138009	broad.mit.edu	37	8	88885789	88885789	+	Missense_Mutation	SNP	G	G	T	rs118036816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885789G>T	ENST00000319675.3	-	1	507	c.411C>A	c.(409-411)caC>caA	p.H137Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2			83					GGGAATCCAAGTGATTCAGTG	0.562000																								0							SO:0001583	missense			ENST00000319675.3	1	1	hg19	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590654	0.13812	.	.	ENSG00000176566	ENST00000319675	T	0.69306	-0.39	1.39	-2.28	0.06826	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.154096	0.64402	D	0.000012	T	0.46814	0.1412	L	0.39397	1.21	0.33377	D	0.574384	B	0.20671	0.047	B	0.18561	0.022	T	0.34502	-0.9826	10	0.17832	T	0.49	.	6.4598	0.21950	0.4841:0.0:0.5159:0.0	.	137	Q8NA75	DC4L2_HUMAN	Q	137	ENSP00000316496:H137Q	ENSP00000316496:H137Q	H	-	3	2	DCAF4L2	88954905	1.000000	0.71417	0.021000	0.16686	0.090000	0.18270	1.251000	0.32862	-0.661000	0.05345	-0.444000	0.05651	CAC		TCGA-IB-7651-01A-11D-2154-08	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	1	0	1	79	399	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1	79	392	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP16	4325	broad.mit.edu	37	8	89054008	89054008	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:89054008T>G	ENST00000286614.6	-	10	1786	c.1505A>C	c.(1504-1506)tAc>tCc	p.Y502S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)			81				Marimastat(DB00786)	CTTTCCTTTGTAGAAATACGT	0.388000																								0							SO:0001583	missense			ENST00000286614.6	1	1	hg19	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175308	0.78564	.	.	ENSG00000156103	ENST00000286614	T	0.02579	4.24	5.86	5.86	0.93980	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	M	0.91972	3.26	0.80722	D	1	P	0.47962	0.903	D	0.79108	0.992	T	0.01010	-1.1482	10	0.66056	D	0.02	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	502	P51512	MMP16_HUMAN	S	502	ENSP00000286614:Y502S	ENSP00000286614:Y502S	Y	-	2	0	MMP16	89123124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.232000	0.73038	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	1	0	1	35	153	0	51	0	3.632199e-02	0	2	0	51	2		0	0	0	0	0	2	1	1	36	149	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PPP1R3B	79660	broad.mit.edu	37	8	8998463	8998463	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8998463G>T	ENST00000310455.3	-	2	849	c.699C>A	c.(697-699)atC>atA	p.I233I	RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.I233I	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B			12					ACTCAGCCCGGATGATCCTAT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000310455.3	1	1	hg19	CCDS5973.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	1	0	1	80	343	0	72	1	1	36	73	0	72	2		0	0	0	0	0	2	1	1	80	336	0	72	2								-3.476145	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSGIN2	734	broad.mit.edu	37	8	90936852	90936852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90936852C>T	ENST00000297438.2	+	6	965	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	OSGIN2_ENST00000451899.2_Missense_Mutation_p.L248F	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2			17			BRCA - Breast invasive adenocarcinoma(11;0.0344)		CGTATCAAGACTCTACAGAGA	0.338000																								0							SO:0001583	missense			ENST00000297438.2	1	1	hg19	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035679	0.35893	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.22539	1.95;1.95	5.01	5.01	0.66863	.	0.191779	0.46758	D	0.000264	T	0.35451	0.0932	L	0.56769	1.78	0.80722	D	1	D;D	0.61080	0.989;0.977	P;P	0.59056	0.735;0.851	T	0.02646	-1.1129	10	0.25751	T	0.34	-7.6292	13.3058	0.60351	0.1583:0.8417:0.0:0.0	.	248;204	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	F	204;248	ENSP00000297438:L204F;ENSP00000396445:L248F	ENSP00000297438:L204F	L	+	1	0	OSGIN2	91006027	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.621000	0.67743	2.343000	0.79666	0.555000	0.69702	CTC		TCGA-IB-7651-01A-11D-2154-08	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	1	0	1	85	459	0	113	1	9.999822e-01	23	63	0	113	2		0	0	0	0	0	2	1	1	84	458	0	113	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NBN	4683	broad.mit.edu	37	8	90965920	90965920	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90965920C>A	ENST00000265433.3	-	11	1552		c.e11-1		NBN_ENST00000409330.1_Splice_Site	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin			27			BRCA - Breast invasive adenocarcinoma(11;0.0344)		ATCCCTTTCCCTTAGATTTAA	0.338000								Homologous recombination																0							SO:0001630	splice_region_variant			ENST00000265433.3	0	1	hg19	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611120	0.66558	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NBN	91035096	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	4.024000	0.57218	2.469000	0.83416	0.650000	0.86243	.		TCGA-IB-7651-01A-11D-2154-08	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	0	0	0	5	93	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.358091e-01	5	91	0	16	2								-3.354005	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.620000	0.240000	1.000000	1.000000	0.643017	0.620000	0	4.000000e-01	9.000000e-01
DECR1	1666	broad.mit.edu	37	8	91033242	91033242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91033242G>A	ENST00000220764.2	+	5	611	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	DECR1_ENST00000522161.1_Missense_Mutation_p.V166M|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial			15			BRCA - Breast invasive adenocarcinoma(11;0.00953)		CACAGCCTTCGTGACACTAGA	0.363000																								0							SO:0001583	missense			ENST00000220764.2	1	1	hg19	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304840	0.40795	2.27E-4	0.0	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761;ENST00000520227	T;D;T;D;D	0.87650	0.96;-2.28;0.96;-2.28;-2.28	5.59	3.83	0.44106	NAD(P)-binding domain (1);	0.055756	0.64402	N	0.000001	D	0.87549	0.6205	L	0.49455	1.56	0.80722	D	1	D;P	0.58620	0.983;0.697	P;B	0.53313	0.723;0.179	D	0.85099	0.0956	10	0.35671	T	0.21	.	12.5811	0.56391	0.135:0.0:0.865:0.0	.	166;175	B7Z6B8;Q16698	.;DECR_HUMAN	M	175;153;166;166;125	ENSP00000220764:V175M;ENSP00000430561:V153M;ENSP00000429779:V166M;ENSP00000427936:V166M;ENSP00000429096:V125M	ENSP00000220764:V175M	V	+	1	0	DECR1	91102418	1.000000	0.71417	0.997000	0.53966	0.235000	0.25334	4.127000	0.57944	0.748000	0.32831	-1.020000	0.02445	GTG		TCGA-IB-7651-01A-11D-2154-08	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1	1	0	1	60	216	0	67	1	1	104	328	0	67	2		0	0	0	0	0	2	1	1	59	212	0	65	2								-20.000000	1	1	121408	17	42	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM64	169200	broad.mit.edu	37	8	91637980	91637980	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91637980G>A	ENST00000458549.2	-	3	1239	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TMEM64_ENST00000519519.1_Silent_p.G93G|TMEM64_ENST00000418210.2_Silent_p.G302G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64			2			BRCA - Breast invasive adenocarcinoma(11;0.0598)		TTGGTTGATTGCCTTTAACCA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000458549.2	1	1	hg19	CCDS34920.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	1	0	1	43	199	0	37	1	9.999853e-01	12	69	0	37	2		0	0	0	0	0	2	1	1	39	194	0	37	2								-19.999950	1	1	121412	2	32	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM64	169200	broad.mit.edu	37	8	91657382	91657382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657382C>T	ENST00000458549.2	-	1	929	c.752G>A	c.(751-753)aGa>aAa	p.R251K	RP11-68L18.1_ENST00000519233.1_RNA|TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K|RP11-68L18.1_ENST00000501194.2_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64			2			BRCA - Breast invasive adenocarcinoma(11;0.0598)		GGGTGTCAGTCTGGCCAGCGC	0.592000											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000458549.2	1	1	hg19	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	C	35	5.497108	0.96355	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.992	D	0.89203	0.3559	9	0.72032	D	0.01	.	16.5351	0.84371	0.0:1.0:0.0:0.0	.	251;251	F5GXM4;Q6YI46	.;TMM64_HUMAN	K	251;251;120	.	ENSP00000411951:R251K	R	-	2	0	TMEM64	91726558	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.277000	0.78572	2.098000	0.63641	0.555000	0.69702	AGA		TCGA-IB-7651-01A-11D-2154-08	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	1	0	1	62	347	0	78	1	9.994881e-01	21	44	0	78	2		0	0	0	0	0	2	1	1	60	341	0	78	2								-3.224784	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM64	169200	broad.mit.edu	37	8	91657411	91657411	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657411T>C	ENST00000458549.2	-	1	900	c.723A>G	c.(721-723)ggA>ggG	p.G241G	RP11-68L18.1_ENST00000519233.1_RNA|TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Silent_p.G241G|RP11-68L18.1_ENST00000501194.2_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64			2			BRCA - Breast invasive adenocarcinoma(11;0.0598)		TCAGGCCGCTTCCTCCCTCCA	0.617000											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000458549.2	1	1	hg19	CCDS34920.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	0	0	1	63	269	1	61	1	9.886200e-01	9	58	1	61	6		0	0	0	0	0	2	1	1	61	262	1	59	18								-20.000000	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM55A	55529	broad.mit.edu	37	8	92033488	92033488	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92033488G>A	ENST00000285419.3	-	2	565	c.251C>T	c.(250-252)gCt>gTt	p.A84V	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A			13			BRCA - Breast invasive adenocarcinoma(11;0.033)		ACTTACCGTAGCTTCATTGCA	0.343000																								0							SO:0001583	missense			ENST00000285419.3	1	1	hg19	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467683	0.96257	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.75363	-0.3344	9	0.54805	T	0.06	-7.6323	19.8946	0.96949	0.0:0.0:1.0:0.0	.	84	Q8N4L2	TM55A_HUMAN	V	84;90	.	ENSP00000285419:A84V	A	-	2	0	TMEM55A	92102664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	1	0	1	66	271	0	59	1	9.999990e-01	14	72	0	59	2		0	0	0	0	0	2	1	1	64	266	0	59	2								-3.478243	1	0	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC26A7	115111	broad.mit.edu	37	8	92350382	92350382	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92350382T>G	ENST00000276609.3	+	7	1039	c.800T>G	c.(799-801)aTt>aGt	p.I267S	SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7			50			BRCA - Breast invasive adenocarcinoma(11;0.00802)		ACACAGATTATTGCTGCATCA	0.303000																								0							SO:0001583	missense			ENST00000276609.3	1	1	hg19	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.10|15.10	2.734097|2.734097	0.48939|0.48939	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536|ENST00000520818	D;D;D|.	0.94613|.	-3.47;-3.47;-3.47|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Sulphate transporter (1);|.	0.138507|.	0.50627|.	D|.	0.000115|.	T|T	0.70945|0.70945	0.3282|0.3282	L|L	0.58669|0.58669	1.825|1.825	0.44523|0.44523	D|D	0.997476|0.997476	B;B|.	0.19583|.	0.037;0.018|.	B;B|.	0.18263|.	0.012;0.021|.	T|T	0.69296|0.69296	-0.5182|-0.5182	10|5	0.87932|.	D|.	0|.	.|.	16.1388|16.1388	0.81509|0.81509	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	267;267|.	Q8TE54-2;Q8TE54|.	.;S26A7_HUMAN|.	S|V	267|135	ENSP00000428849:I267S;ENSP00000276609:I267S;ENSP00000309504:I267S|.	ENSP00000276609:I267S|.	I|L	+|+	2|1	0|2	SLC26A7|SLC26A7	92419558|92419558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.140000|5.140000	0.64807|0.64807	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	ATT|TTG		TCGA-IB-7651-01A-11D-2154-08	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1	1	0	1	63	249	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	63	244	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM92A1	137392	broad.mit.edu	37	8	94713675	94713675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94713675C>T	ENST00000518322.1	+	2	391	c.250C>T	c.(250-252)Cga>Tga	p.R84*	LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1			7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)		TCAGGATTATCGACAAGCAGA	0.443000																								0							SO:0001587	stop_gained			ENST00000518322.1	0	1	hg19	CCDS47892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.410186|6.410186	0.97546|0.97546	.|.	.|.	ENSG00000188343|ENSG00000188343	ENST00000523475;ENST00000518829;ENST00000518322;ENST00000522324;ENST00000522803;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000540007;ENST00000520955|ENST00000523453	.|.	.|.	.|.	4.38|4.38	3.43|3.43	0.39272|0.39272	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68650	.|0.3024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67948	.|-0.5538	.|4	0.02654|.	T|.	1|.	-15.1932|-15.1932	14.2849|14.2849	0.66240|0.66240	0.1487:0.8513:0.0:0.0|0.1487:0.8513:0.0:0.0	.|.	.|.	.|.	.|.	X|L	14;14;84;84;84;84;84;84;84;14|94	.|.	ENSP00000341363:R84X|.	R|S	+|+	1|2	2|0	FAM92A1|FAM92A1	94782851|94782851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.831000|5.831000	0.69330|0.69330	2.430000|2.430000	0.82344|0.82344	0.655000|0.655000	0.94253|0.94253	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	0	0	1	21	88	0	26	1	9.999871e-01	9	77	0	26	2		0	0	0	0	0	2	1	9.999982e-01	21	83	0	25	2								-15.050070	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999921	0.990000	1	9.900000e-01	1
TMEM67	91147	broad.mit.edu	37	8	94800075	94800075	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94800075C>T	ENST00000453321.3	+	14	1474	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	TMEM67_ENST00000409623.3_Silent_p.V391V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67			41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)		TAAATAGTGTCCACCTTGTAC	0.343000																								0							SO:0001819	synonymous_variant			ENST00000453321.3	1	1	hg19	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	0.834	-0.744151	0.03088	.	.	ENSG00000164953	ENST00000520680	.	.	.	5.59	3.39	0.38822	.	.	.	.	.	T	0.54902	0.1887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51036	-0.8756	4	.	.	.	-9.2279	6.1893	0.20516	0.1666:0.6377:0.0:0.1957	.	.	.	.	S	80	.	.	P	+	1	0	TMEM67	94869251	0.767000	0.28508	0.964000	0.40570	0.236000	0.25371	1.234000	0.32660	1.305000	0.44909	0.557000	0.71058	CCA		TCGA-IB-7651-01A-11D-2154-08	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	1	0	1	75	423	0	101	1	8.024991e-01	5	14	0	101	2		0	0	0	0	0	2	1	1	75	416	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDP1	54704	broad.mit.edu	37	8	94935002	94935002	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935002G>T	ENST00000297598.4	+	2	984	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	PDP1_ENST00000520728.1_Missense_Mutation_p.A239S|PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000396200.3_Missense_Mutation_p.A264S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1			18					TCTAATTAATGCCTTCAAGAG	0.433000																								0							SO:0001583	missense			ENST00000297598.4	1	1	hg19	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732938	0.30684	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.16	6.16	0.99307	Protein phosphatase 2C-like (5);	0.158082	0.56097	D	0.000028	T	0.18882	0.0453	L	0.43646	1.37	0.80722	D	1	B;B	0.31459	0.324;0.212	B;B	0.34873	0.191;0.191	T	0.02004	-1.1231	10	0.30078	T	0.28	-9.2349	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	290;239	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	239;239;264;239	ENSP00000297598:A239S;ENSP00000428317:A239S;ENSP00000379503:A264S;ENSP00000430380:A239S	ENSP00000297598:A239S	A	+	1	0	PDP1	95004178	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.614000	0.74197	2.937000	0.99478	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	1	0	1	107	421	0	99	1	9.999953e-01	27	44	0	99	2		0	0	0	0	0	2	1	1	106	414	0	99	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDP1	54704	broad.mit.edu	37	8	94935883	94935883	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935883G>A	ENST00000297598.4	+	2	1865	c.1596G>A	c.(1594-1596)gcG>gcA	p.A532A	PDP1_ENST00000520728.1_Silent_p.A532A|PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000396200.3_Silent_p.A557A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1			18					TTGTAGGGGCGTATCAAAACC	0.353000																								0							SO:0001819	synonymous_variant			ENST00000297598.4	1	1	hg19	CCDS6259.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	1	0	1	72	335	0	80	1	9.999986e-01	18	75	0	80	2		0	0	0	0	0	2	1	1	71	328	0	76	2								-3.281977	1	1	121412	43	48	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH17	1015	broad.mit.edu	37	8	95182635	95182635	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95182635A>G	ENST00000027335.3	-	9	1180	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)			52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)		CCAGTCGTTCATTCTCCTGGA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000027335.3	1	1	hg19	CCDS6260.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	1	0	0	126	538	0	109	1	1	170	179	0	109	2		0	0	0	0	0	2	1	1	124	519	0	109	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH17	1015	broad.mit.edu	37	8	95189834	95189834	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95189834C>A	ENST00000027335.3	-	4	390	c.266G>T	c.(265-267)aGa>aTa	p.R89I	CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)			52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)		GTGAGTAGATCTTGTTTCCCT	0.463000																								0							SO:0001583	missense			ENST00000027335.3	1	1	hg19	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102864	0.20632	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60299	0.2;4.58;0.2;0.69	6.04	2.23	0.28157	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000011	T	0.52338	0.1728	L	0.39326	1.205	0.27924	N	0.93813	P;D	0.57257	0.836;0.979	B;P	0.51806	0.308;0.68	T	0.48364	-0.9042	10	0.66056	D	0.02	-11.6902	5.5827	0.17258	0.0:0.5728:0.1352:0.292	.	89;89	E7EN24;Q12864	.;CAD17_HUMAN	I	89	ENSP00000027335:R89I;ENSP00000392811:R89I;ENSP00000401468:R89I;ENSP00000428189:R89I	ENSP00000027335:R89I	R	-	2	0	CDH17	95259010	0.969000	0.33509	0.531000	0.27976	0.134000	0.20937	0.796000	0.26986	0.444000	0.26612	-0.251000	0.11542	AGA		TCGA-IB-7651-01A-11D-2154-08	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	1	0	1	90	488	0	109	1	1	149	169	0	109	2		0	0	0	0	0	2	1	1	88	484	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNKS	8658	broad.mit.edu	37	8	9538260	9538260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9538260G>A	ENST00000310430.6	+	5	1083	c.1057G>A	c.(1057-1059)Gct>Act	p.A353T	TNKS_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000518281.1_Missense_Mutation_p.A116T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase			49					AAAACTAATGGCTTTACTGAC	0.299000																								0							SO:0001583	missense			ENST00000310430.6	1	1	hg19	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998546	0.74818	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.21932	2.41;2.41;1.98	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.33485	1.01	0.80722	D	1	D;B	0.56035	0.974;0.008	P;B	0.62014	0.897;0.027	T	0.00832	-1.1548	10	0.26408	T	0.33	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	353;353	E7EWY6;O95271	.;TNKS1_HUMAN	T	353;353;116	ENSP00000428299:A353T;ENSP00000311579:A353T;ENSP00000429890:A116T	ENSP00000311579:A353T	A	+	1	0	TNKS	9575670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.081000	0.76844	2.747000	0.94245	0.585000	0.79938	GCT		TCGA-IB-7651-01A-11D-2154-08	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1	60	315	0	107	1	9.885641e-01	7	32	0	107	2		0	0	0	0	0	2	1	1	59	310	0	107	2								-20.000000	1	1	121408	1	29	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAD54B	25788	broad.mit.edu	37	8	95390544	95390544	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95390544G>A	ENST00000336148.5	-	14	2503	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)			39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)		TGGTGAGGTCGACAACTGCCC	0.353000								Direct reversal of damage;Homologous recombination																0							SO:0001819	synonymous_variant			ENST00000336148.5	1	1	hg19	CCDS6262.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	1	0	1	26	134	0	32	1	4.539781e-01	5	4	0	32	2		0	0	0	0	0	2	1	1	26	133	0	31	2								-15.244080	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999889	0.990000	1	9.900000e-01	1
DPY19L4	286148	broad.mit.edu	37	8	95802019	95802019	+	Nonsense_Mutation	SNP	C	C	T	rs145854417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95802019C>T	ENST00000414645.2	+	19	2152	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	KB-1608C10.2_ENST00000510185.2_RNA|KB-1608C10.2_ENST00000521706.1_RNA	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)			21	Breast(36;3.85e-06)				AAAATATGGGCGATTTTGTCA	0.294000																								0							SO:0001587	stop_gained			ENST00000414645.2	0	1	hg19	CCDS34924.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	37	6.156228	0.97334	2.27E-4	3.49E-4	ENSG00000156162	ENST00000414645	.	.	.	5.19	2.33	0.28932	.	0.060745	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1931	14.719	0.69291	0.3827:0.6173:0.0:0.0	.	.	.	.	X	685	.	ENSP00000389630:R685X	R	+	1	2	DPY19L4	95871195	1.000000	0.71417	0.941000	0.38009	0.989000	0.77384	1.520000	0.35899	0.238000	0.21222	0.557000	0.71058	CGA		TCGA-IB-7651-01A-11D-2154-08	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	1	0	1	73	478	0	138	1	9.809012e-01	7	36	0	138	2		0	0	0	0	0	2	1	1	70	473	0	137	2								-20.000000	1	1	121404	35	48	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
INTS8	55656	broad.mit.edu	37	8	95869141	95869141	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95869141C>T	ENST00000523731.1	+	15	2022	c.1889C>T	c.(1888-1890)gCa>gTa	p.A630V	INTS8_ENST00000447247.1_Missense_Mutation_p.A630V|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8			28	Breast(36;1.05e-06)				ACAGGGCAGGCAGGAGAGAGA	0.468000																								0							SO:0001583	missense			ENST00000523731.1	1	1	hg19	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.402040|2.402040	0.42613|0.42613	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.272174|.	0.36134|.	N|.	0.002773|.	T|.	0.37019|.	0.0988|.	N|N	0.14661|0.14661	0.345|0.345	0.20821|0.20821	N|N	0.999848|0.999848	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.16289|.	0.015;0.015|.	T|.	0.29822|.	-0.9999|.	9|.	0.54805|.	T|.	0.06|.	-0.7634|-0.7634	19.7866|19.7866	0.96442|0.96442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	630;630|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	V|X	630|452	.|.	ENSP00000343274:A630V|.	A|Q	+|+	2|1	0|0	INTS8|INTS8	95938317|95938317	0.002000|0.002000	0.14202|0.14202	0.414000|0.414000	0.26521|0.26521	0.813000|0.813000	0.45954|0.45954	1.312000|1.312000	0.33574|0.33574	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GCA|CAG		TCGA-IB-7651-01A-11D-2154-08	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	1	0	1	92	400	0	70	0	9.998965e-01	1	59	0	70	2		0	0	0	0	0	2	1	1	89	391	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INTS8	55656	broad.mit.edu	37	8	95871751	95871751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95871751G>A	ENST00000523731.1	+	16	2100	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	INTS8_ENST00000447247.1_Missense_Mutation_p.R656H|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8			28	Breast(36;1.05e-06)				ATTCCTCTTCGTCAAGTTATA	0.343000																								0							SO:0001583	missense			ENST00000523731.1	1	1	hg19	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.179313|5.179313	0.94846|0.94846	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75946|0.75946	0.3919|0.3919	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.73052|0.73052	-0.4104|-0.4104	9|5	0.87932|.	D|.	0|.	-0.2176|-0.2176	20.0175|20.0175	0.97485|0.97485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;656|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	H|I	656|478	.|.	ENSP00000343274:R656H|.	R|V	+|+	2|1	0|0	INTS8|INTS8	95940927|95940927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.230000|9.230000	0.95299|0.95299	2.730000|2.730000	0.93505|0.93505	0.650000|0.650000	0.86243|0.86243	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	1	0	1	41	211	0	43	1	9.985465e-01	6	48	0	43	2		0	0	0	0	0	2	1	1	40	208	0	43	2								-20.000000	1	1	121404	4	34	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
CCNE2	9134	broad.mit.edu	37	8	95900214	95900214	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95900214T>G	ENST00000520509.1	-	7	793	c.541A>C	c.(541-543)Aat>Cat	p.N181H	CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H			O96020	CCNE2_HUMAN	cyclin E2			11	Breast(36;8.75e-07)				ATATTTTTATTTATATCCTTT	0.294000																								0							SO:0001583	missense			ENST00000520509.1	1	1	hg19	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.828|8.828	0.939186|0.939186	0.18281|0.18281	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133|ENST00000524224	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.246397|.	0.50627|.	D|.	0.000115|.	T|.	0.55955|.	0.1953|.	L|L	0.28649|0.28649	0.875|0.875	0.46874|0.46874	D|D	0.999233|0.999233	B;D|.	0.67145|.	0.029;0.996|.	B;P|.	0.62014|.	0.065;0.897|.	T|.	0.52578|.	-0.8557|.	10|.	0.40728|.	T|.	0.16|.	.|.	15.8419|15.8419	0.78852|0.78852	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181;181|.	Q8WUE3;O96020|.	.;CCNE2_HUMAN|.	H|Y	181;181;73;181|44	ENSP00000429089:N181H;ENSP00000309181:N181H;ENSP00000379437:N181H|.	ENSP00000309181:N181H|.	N|X	-|-	1|3	0|2	CCNE2|CCNE2	95969390|95969390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.056000|2.056000	0.41355|0.41355	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	AAT|TAA		TCGA-IB-7651-01A-11D-2154-08	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	1	0	1	51	186	0	59	1	5.440704e-01	2	6	0	59	2		0	0	0	0	0	2	1	1	51	182	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNKS	8658	broad.mit.edu	37	8	9605704	9605704	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9605704G>A	ENST00000310430.6	+	18	2840	c.2814G>A	c.(2812-2814)acG>acA	p.T938T	TNKS_ENST00000518281.1_Silent_p.T701T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase			49					AAGGCCAGACGCCTCTGGATC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000310430.6	1	1	hg19	CCDS5974.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1	43	161	0	25	1	9.980765e-01	9	30	0	25	2		0	0	0	0	0	2	1	1	43	160	0	25	2								-20.000000	1	1	121410	3	37	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNKS	8658	broad.mit.edu	37	8	9623249	9623249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623249A>G	ENST00000310430.6	+	24	3521	c.3495A>G	c.(3493-3495)cgA>cgG	p.R1165R	TNKS_ENST00000518281.1_Silent_p.R928R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase			49					TCTGCCACCGACAGAAGGAAG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000310430.6	1	1	hg19	CCDS5974.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1	44	266	0	84	1	9.966156e-01	10	45	0	84	2		0	0	0	0	0	2	1	1	43	258	0	83	2								-19.871510	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	9.900000e-01	1
TNKS	8658	broad.mit.edu	37	8	9623794	9623794	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623794G>A	ENST00000310430.6	+	25	3625	c.3599G>A	c.(3598-3600)cGa>cAa	p.R1200Q	TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	p.R1200Q(2)		49					TTTGATGAGCGACATGCATAC	0.383000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000310430.6	1	1	hg19	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	36	5.633902	0.96682	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14266	2.52;2.52	5.98	5.98	0.97165	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	P	0.49192	0.602	T	0.02093	-1.1215	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1200	O95271	TNKS1_HUMAN	Q	1200;963	ENSP00000311579:R1200Q;ENSP00000429890:R963Q	ENSP00000311579:R1200Q	R	+	2	0	TNKS	9661204	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1	95	460	0	120	1	9.999651e-01	16	57	0	120	2		0	0	0	0	0	2	1	1	91	450	0	119	2								-3.339242	1	1	121412	1	23	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNKS	8658	broad.mit.edu	37	8	9627692	9627692	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9627692C>T	ENST00000310430.6	+	26	3843	c.3817C>T	c.(3817-3819)Cca>Tca	p.P1273S	TNKS_ENST00000518281.1_Missense_Mutation_p.P1036S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase			49					CCACGCGCCTCCAGGGCACCA	0.453000																								0							SO:0001583	missense			ENST00000310430.6	1	1	hg19	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072626	0.76415	.	.	ENSG00000173273	ENST00000310430;ENST00000518281;ENST00000517770	T;T;T	0.13657	2.57;2.57;2.59	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.29181	-1.0020	10	0.87932	D	0	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	1273	O95271	TNKS1_HUMAN	S	1273;1036;18	ENSP00000311579:P1273S;ENSP00000429890:P1036S;ENSP00000428185:P18S	ENSP00000311579:P1273S	P	+	1	0	TNKS	9665102	1.000000	0.71417	0.948000	0.38648	0.326000	0.28443	7.768000	0.85345	2.595000	0.87683	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	1	0	1	56	242	0	47	1	9.999400e-01	15	50	0	47	2		0	0	0	0	0	2	1	1	55	237	0	46	2								-3.009607	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UQCRB	7381	broad.mit.edu	37	8	97244142	97244142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97244142C>T	ENST00000287022.5	-	3	221	c.118G>A	c.(118-120)Gag>Aag	p.E40K	UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K|UQCRB_ENST00000518406.1_Missense_Mutation_p.E40K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein			10	Breast(36;5.16e-05)				TCTTCATCCTCGTATATTGTA	0.363000																								0							SO:0001583	missense			ENST00000287022.5	1	1	hg19	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500402	0.64298	.	.	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.4	5.4	0.78164	.	0.098626	0.64402	D	0.000002	T	0.61451	0.2348	H	0.95574	3.69	0.80722	D	1	P	0.37688	0.605	B	0.32211	0.142	T	0.73968	-0.3815	10	0.66056	D	0.02	-11.4134	17.3502	0.87321	0.0:1.0:0.0:0.0	.	40	P14927	QCR7_HUMAN	K	40;8;40;40	ENSP00000287022:E40K;ENSP00000429787:E8K;ENSP00000430494:E40K;ENSP00000430560:E40K	ENSP00000287022:E40K	E	-	1	0	UQCRB	97313318	1.000000	0.71417	0.071000	0.20095	0.185000	0.23345	7.522000	0.81844	2.534000	0.85438	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	1	0	1	45	252	0	66	1	1	432	1690	0	66	2		0	0	0	0	0	2	1	1	44	248	0	66	2								-2.782659	1	1	121412	5	38	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
PTDSS1	9791	broad.mit.edu	37	8	97296348	97296348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97296348C>T	ENST00000517309.1	+	3	609	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Intron	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1			29	Breast(36;6.18e-05)			Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353000																								0							SO:0001587	stop_gained			ENST00000517309.1	0	1	hg19	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	40	8.117612	0.98662	.	.	ENSG00000156471	ENST00000517309	.	.	.	5.16	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5217	12.3532	0.55161	0.3274:0.6726:0.0:0.0	.	.	.	.	X	95	.	ENSP00000430548:R95X	R	+	1	2	PTDSS1	97365524	0.944000	0.32072	0.870000	0.34147	0.980000	0.70556	2.050000	0.41297	0.465000	0.27167	0.603000	0.83216	CGA		TCGA-IB-7651-01A-11D-2154-08	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2	1	0	1	89	394	0	74	1	1	6	192	0	74	2		0	0	0	0	0	2	1	1	89	388	0	73	2								-3.065914	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSPYL5	85453	broad.mit.edu	37	8	98289747	98289747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98289747G>A	ENST00000322128.3	-	1	429	c.326C>T	c.(325-327)gCc>gTc	p.A109V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5			20	Breast(36;2.56e-06)				GAGAGATGCGGCCTTCCCCGG	0.741000																								0							SO:0001583	missense			ENST00000322128.3	0	1	hg19	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732158	0.15507	.	.	ENSG00000180543	ENST00000322128	T	0.19105	2.17	4.05	2.25	0.28309	.	0.840683	0.09688	N	0.768828	T	0.18173	0.0436	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23940	-1.0174	10	0.56958	D	0.05	-2.2082	6.8549	0.24034	0.2072:0.0:0.7928:0.0	.	109	Q86VY4	TSYL5_HUMAN	V	109	ENSP00000322802:A109V	ENSP00000322802:A109V	A	-	2	0	TSPYL5	98358923	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.707000	0.25704	0.649000	0.30751	0.650000	0.86243	GCC		TCGA-IB-7651-01A-11D-2154-08	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	0	0	0	21	81	0	11	0	3.722739e-01	0	6	0	11	2		0	0	0	0	0	2	1	9.999989e-01	20	81	0	11	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
LAPTM4B	55353	broad.mit.edu	37	8	98827618	98827618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98827618G>A	ENST00000521545.2	+	3	508	c.274G>A	c.(274-276)Gga>Aga	p.G92R	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.G183R			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta			10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)		GGCTACTTACGGAGCGTACAA	0.418000																								0							SO:0001583	missense			ENST00000521545.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	27.9	4.872607	0.91587	.	.	ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545	T;T	0.47177	0.85;0.85	5.81	5.81	0.92471	.	0.055694	0.64402	D	0.000001	T	0.72906	0.3519	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76418	-0.2966	10	0.72032	D	0.01	-12.4055	16.9823	0.86332	0.0:0.0:1.0:0.0	.	236	Q86VI4	LAP4B_HUMAN	R	183;229;92	ENSP00000402301:G183R;ENSP00000428409:G92R	ENSP00000367995:G229R	G	+	1	0	LAPTM4B	98896794	1.000000	0.71417	0.939000	0.37840	0.756000	0.42949	8.852000	0.92215	2.738000	0.93877	0.557000	0.71058	GGA		TCGA-IB-7651-01A-11D-2154-08	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2	1	0	1	41	256	0	40	1	1	128	376	0	40	2		0	0	0	0	0	2	1	1	41	245	0	39	2								-2.600045	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999917	0.990000	1	9.900000e-01	1
MATN2	4147	broad.mit.edu	37	8	99030295	99030295	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99030295C>T	ENST00000520016.1	+	11	1894	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	MATN2_ENST00000522025.2_Silent_p.C306C|MATN2_ENST00000521689.1_Silent_p.C590C|MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000254898.5_Silent_p.C590C			O00339	MATN2_HUMAN	matrilin 2			31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)		CATACACGTGCGAGTGCTTGG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000520016.1	1	1	hg19	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	1.490	-0.554985	0.03967	0.0	1.19E-4	ENSG00000132561	ENST00000518154;ENST00000517321	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2589	12.2666	0.54681	0.0:0.9233:0.0:0.0767	.	.	.	.	X	373;65	.	.	R	+	1	2	MATN2	99099471	0.093000	0.21703	1.000000	0.80357	0.014000	0.08584	0.633000	0.24598	2.691000	0.91804	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1	1	0	1	175	777	0	219	1	1	37	74	0	219	2		0	0	0	0	0	2	1	1	173	754	0	217	2								-20.000000	1	1	121052	1	35	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MATN2	4147	broad.mit.edu	37	8	99039839	99039839	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99039839A>G	ENST00000520016.1	+	13	2262	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.N713S|MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000254898.5_Missense_Mutation_p.N713S			O00339	MATN2_HUMAN	matrilin 2			31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)		AGAAACTTCAACTCAGCCAAA	0.478000																								0							SO:0001583	missense			ENST00000520016.1	1	1	hg19	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	A	4.471	0.087380	0.08583	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.24	1.14	0.20703	von Willebrand factor, type A (3);	0.432631	0.23966	N	0.042813	T	0.56262	0.1973	N	0.05230	-0.09	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50110	-0.8866	10	0.02654	T	1	-9.1721	6.1465	0.20289	0.279:0.12:0.6009:0.0	.	713;713;713	E9PF03;O00339-2;O00339	.;.;MATN2_HUMAN	S	713;713;672;672;429;713	ENSP00000429977:N713S;ENSP00000254898:N713S;ENSP00000430221:N672S;ENSP00000429010:N429S;ENSP00000430487:N713S	ENSP00000254898:N713S	N	+	2	0	MATN2	99109015	0.934000	0.31675	0.995000	0.50966	0.992000	0.81027	0.216000	0.17585	0.233000	0.21120	0.454000	0.30748	AAC		TCGA-IB-7651-01A-11D-2154-08	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1	1	0	1	45	177	0	52	1	9.999998e-01	28	68	0	52	2		0	0	0	0	0	2	1	1	44	175	0	52	2								-20.000000	1	1	120824	1	33	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POP1	10940	broad.mit.edu	37	8	99142303	99142303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99142303G>A	ENST00000401707.2	+	5	665	c.584G>A	c.(583-585)aGa>aAa	p.R195K	POP1_ENST00000349693.3_Missense_Mutation_p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)			36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)		TTTAACCGTAGACAAAAGAAG	0.443000																								0							SO:0001583	missense			ENST00000401707.2	1	1	hg19	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679774	0.96774	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.59502	0.26;0.26	5.81	5.81	0.92471	Ribonuclease P/MRP, subunit POP1 (1);	0.133902	0.46145	D	0.000318	T	0.73931	0.3650	M	0.66297	2.02	0.54753	D	0.999988	D	0.54207	0.965	D	0.66497	0.944	T	0.71768	-0.4493	9	.	.	.	0.8959	17.8794	0.88835	0.0:0.0:1.0:0.0	.	195	Q99575	POP1_HUMAN	K	195	ENSP00000385787:R195K;ENSP00000339529:R195K	.	R	+	2	0	POP1	99211479	1.000000	0.71417	0.848000	0.33437	0.953000	0.61014	9.869000	0.99810	2.746000	0.94184	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	1	0	1	59	268	0	52	1	8.109619e-01	4	12	0	52	2		0	0	0	0	0	2	1	1	55	264	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NIPAL2	79815	broad.mit.edu	37	8	99207043	99207043	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99207043G>A	ENST00000341166.3	-	10	1207	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	RNU6-914P_ENST00000516749.1_RNA|NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.L318L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2			12					AGGAATGACAGAAAACACCTG	0.308000																								0							SO:0001819	synonymous_variant			ENST00000341166.3	1	1	hg19	CCDS6278.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	1	0	1	19	98	0	36	1	9.623177e-01	6	25	0	36	2		0	0	0	0	0	2	1	9.999949e-01	19	98	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	0.999409	0.990000	1	9.900000e-01	1
KCNS2	3788	broad.mit.edu	37	8	99440776	99440776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99440776G>A	ENST00000287042.4	+	2	919	c.569G>A	c.(568-570)aGc>aAc	p.S190N	KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2			31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)		AGGGTCTTCAGCATCCTGTCC	0.617000													Pancreas(138;844 2489 9202 24627)											0							SO:0001583	missense			ENST00000287042.4	1	1	hg19	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300239	0.60195	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97303	-4.33;-4.33	5.79	5.79	0.91817	.	0.041854	0.85682	D	0.000000	D	0.95500	0.8538	M	0.64170	1.965	0.39189	D	0.962921	B	0.33694	0.421	B	0.29524	0.103	D	0.95547	0.8617	10	0.87932	D	0	.	15.5109	0.75782	0.0:0.1377:0.8623:0.0	.	190	Q9ULS6	KCNS2_HUMAN	N	190	ENSP00000287042:S190N;ENSP00000430712:S190N	ENSP00000287042:S190N	S	+	2	0	KCNS2	99509952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.735000	0.93741	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	1	0	1	64	291	0	82	0	3.356650e-02	0	2	0	82	2		0	0	0	0	0	2	1	1	63	287	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OSR2	116039	broad.mit.edu	37	8	99961621	99961621	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99961621C>A	ENST00000297565.4	+	2	937	c.441C>A	c.(439-441)atC>atA	p.I147I	OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000523368.1_Silent_p.I147I|OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000435298.2_Silent_p.I147I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2			25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)		GTAGCCCCATCTCGGGCCTCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000297565.4	1	1	hg19	CCDS47901.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	0	0	0	31	857	0	183	0	2.929043e-01	1	29	0	183	2		0	0	0	0	0	2	1	1	30	842	0	182	2								-3.648750	1	1	120880	3	39	1	0	0	0	1.973482	0	0.170000	2.060000	1.600040e-01	0.400000	0.270000	0.560000	0.410000	0.415498	0.400000	0	3.300000e-01	4.800000e-01
TSTD2	158427	broad.mit.edu	37	9	100365039	100365039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100365039G>T	ENST00000341170.4	-	10	1645	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2			15					GGGCTCCACAGTATGAACACT	0.512000																								0							SO:0001587	stop_gained			ENST00000341170.4	0	1	hg19	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	44	11.259084	0.99538	.	.	ENSG00000136925	ENST00000375173;ENST00000375172;ENST00000341170	.	.	.	5.75	3.86	0.44501	.	0.060741	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2467	13.5115	0.61515	0.1371:0.0:0.8629:0.0	.	.	.	.	X	17;195;421	.	ENSP00000342499:Y421X	Y	-	3	2	TSTD2	99404860	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.157000	0.50716	1.550000	0.49438	0.655000	0.94253	TAC		TCGA-IB-7651-01A-11D-2154-08	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	1	0	0	67	250	0	57	1	9.976897e-01	6	31	0	57	2		0	0	0	0	0	2	1	1	64	241	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXE1	2304	broad.mit.edu	37	9	100617275	100617275	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100617275C>T	ENST00000375123.3	+	1	1740	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)			5		Acute lymphoblastic leukemia(62;0.158)			CGCCATGCTGCCGCTTATCCC	0.642000																								0							SO:0001583	missense			ENST00000375123.3	1	1	hg19	CCDS35078.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005295	0.35415	.	.	ENSG00000178919	ENST00000375123	D	0.93953	-3.32	4.78	3.86	0.44501	.	38.421700	0.01330	U	0.011232	D	0.88235	0.6382	N	0.08118	0	0.20489	N	0.999892	B	0.20052	0.041	B	0.19391	0.025	T	0.76168	-0.3058	10	0.52906	T	0.07	.	12.2963	0.54849	0.171:0.829:0.0:0.0	.	360	O00358	FOXE1_HUMAN	V	360	ENSP00000364265:A360V	ENSP00000364265:A360V	A	+	2	0	FOXE1	99657096	0.933000	0.31639	0.030000	0.17652	0.061000	0.15899	2.731000	0.47343	1.334000	0.45468	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1	1	0	1	32	161	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	32	159	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
HEMGN	55363	broad.mit.edu	37	9	100693016	100693016	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100693016C>A	ENST00000259456.3	-	4	804	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen			27		Acute lymphoblastic leukemia(62;0.0559)			TTAGCCATATCTTGGTACATT	0.418000																								0							SO:0001583	missense			ENST00000259456.3	1	1	hg19	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736471	0.49045	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.82	1.93	0.25924	.	0.819333	0.10544	N	0.662314	T	0.41811	0.1175	L	0.58101	1.795	0.09310	N	1	P	0.41131	0.739	P	0.44394	0.448	T	0.32561	-0.9902	9	0.62326	D	0.03	-1.5525	4.9966	0.14243	0.0:0.6384:0.1729:0.1887	.	221	Q9BXL5	HEMGN_HUMAN	Y	221	.	ENSP00000259456:D221Y	D	-	1	0	HEMGN	99732837	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.222000	0.17699	0.337000	0.23665	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	1	0	1	232	1040	1	272		0	0	0	1	272	2		0	0	0	0	0	2	1	1	227	1030	1	272	17								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM14	9830	broad.mit.edu	37	9	100850171	100850171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100850171G>A	ENST00000341469.2	-	6	919	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14			9		Acute lymphoblastic leukemia(62;0.0559)			GCGTCGAACCGCAGCACGGGC	0.726000													Colon(14;460 597 13826 51781)											0							SO:0001583	missense			ENST00000341469.2	1	1	hg19	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086854	0.55861	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000538344	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.56	3.57	0.40892	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.085614	0.45361	D	0.000379	T	0.79958	0.4536	H	0.95294	3.65	0.44547	D	0.997505	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.987;0.987;0.994;0.987	D	0.83396	0.0020	10	0.87932	D	0	.	8.7341	0.34516	0.0:0.0:0.6043:0.3957	.	85;82;304;304	B7ZAZ9;B4E0G2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	W	304;304;304;304;85	ENSP00000364239:R304W;ENSP00000344208:R304W;ENSP00000343990:R304W;ENSP00000445355:R85W	ENSP00000344208:R304W	R	-	1	2	TRIM14	99889992	1.000000	0.71417	0.211000	0.23655	0.392000	0.30506	2.273000	0.43381	2.079000	0.62486	0.305000	0.20034	CGG		TCGA-IB-7651-01A-11D-2154-08	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	1	0	0	22	61	0	8	1	2.987182e-01	3	1	0	8	2		0	0	0	0	0	2	1	9.999995e-01	22	58	0	8	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
TBC1D2	55357	broad.mit.edu	37	9	100961829	100961829	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100961829C>T	ENST00000375066.5	-	13	2679	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2			24		Myeloproliferative disorder(762;0.0255)			CTGTTTCATGCGGAAGGGGTT	0.632000																								0							SO:0001583	missense			ENST00000375066.5	1	1	hg19	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996325	0.54147	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.08720	3.06;3.48;3.08	5.51	2.54	0.30619	Rab-GAP/TBC domain (1);	0.423651	0.25774	N	0.028394	T	0.07818	0.0196	N	0.14661	0.345	0.26248	N	0.978766	D;D	0.57899	0.968;0.981	B;P	0.45449	0.288;0.481	T	0.12528	-1.0544	10	0.66056	D	0.02	.	17.0294	0.86457	0.0:0.5717:0.4283:0.0	.	874;863	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	H	863;656;414	ENSP00000364207:R863H;ENSP00000341567:R656H;ENSP00000364203:R414H	ENSP00000341567:R656H	R	-	2	0	TBC1D2	100001650	1.000000	0.71417	0.075000	0.20258	0.576000	0.36127	3.606000	0.54095	0.218000	0.20820	-0.416000	0.06073	CGC		TCGA-IB-7651-01A-11D-2154-08	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	1	0	1	217	1061	0	197	1	1	58	94	0	197	2		0	0	0	0	0	2	1	1	212	1030	0	185	2								-20.000000	1	1	121406	7	44	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D2	55357	broad.mit.edu	37	9	100965573	100965573	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100965573G>A	ENST00000375064.1	-	10	2306	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TBC1D2_ENST00000375063.1_Silent_p.S296S|TBC1D2_ENST00000375066.5_Silent_p.S756S|TBC1D2_ENST00000342112.5_Silent_p.S538S	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2			24		Myeloproliferative disorder(762;0.0255)			CACTTACCTGGGATGCCGTCA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000375064.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	1	0	1	90	492	0	137	1	1	36	138	0	137	2		0	0	0	0	0	2	1	1	89	483	0	135	2								-2.808106	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBC1D2	55357	broad.mit.edu	37	9	101017623	101017623	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101017623G>A	ENST00000375064.1	-	1	239	c.201C>T	c.(199-201)cgC>cgT	p.R67R	TBC1D2_ENST00000375066.5_Silent_p.R67R|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2			24		Myeloproliferative disorder(762;0.0255)			AGAAGAACCAGCGGGATTTCC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000375064.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	1	0	1	63	336	0	81	1	9.999993e-01	26	86	0	81	2		0	0	0	0	0	2	1	1	63	333	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABBR2	9568	broad.mit.edu	37	9	101125090	101125090	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101125090G>A	ENST00000259455.2	-	13	2259	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2		NOTCH1_ENST00000277541/GABBR2(2)	49		Acute lymphoblastic leukemia(62;0.0527)		Baclofen(DB00181)	TGCCCCCCACGATCACAAGCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000259455.2	1	1	hg19	CCDS6736.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1	1	0	0	9	193	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	9.941447e-01	9	190	0	55	2								-3.318793	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.520000	0.250000	0.880000	0.500000	0.542985	0.520000	0	3.700000e-01	7.000000e-01
GABBR2	9568	broad.mit.edu	37	9	101304292	101304292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101304292C>T	ENST00000259455.2	-	3	952	c.493G>A	c.(493-495)Gat>Aat	p.D165N	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2		NOTCH1_ENST00000277541/GABBR2(2)	49		Acute lymphoblastic leukemia(62;0.0527)		Baclofen(DB00181)	TTTTTCTTATCGGCTAGAACA	0.468000																								0							SO:0001583	missense			ENST00000259455.2	1	1	hg19	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004770	0.35320	.	.	ENSG00000136928	ENST00000259455	T	0.28069	1.63	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.052758	0.64402	D	0.000001	T	0.38585	0.1046	N	0.20304	0.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.08785	-1.0705	10	0.12766	T	0.61	.	16.6427	0.85130	0.0:1.0:0.0:0.0	.	165	O75899	GABR2_HUMAN	N	165	ENSP00000259455:D165N	ENSP00000259455:D165N	D	-	1	0	GABBR2	100344113	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.703000	0.84585	2.538000	0.85594	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1	1	0	1	57	188	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	56	185	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABBR2	9568	broad.mit.edu	37	9	101340265	101340265	+	Silent	SNP	G	G	A	rs56067237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101340265G>A	ENST00000259455.2	-	2	870	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2		NOTCH1_ENST00000277541/GABBR2(2)	49		Acute lymphoblastic leukemia(62;0.0527)		Baclofen(DB00181)	TGGATGTGACGGATGGACAGA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000259455.2	1	1	hg19	CCDS6736.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1	1	0	1	53	246	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	52	243	0	78	2								-2.748848	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKS6	203286	broad.mit.edu	37	9	101518814	101518814	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101518814C>T	ENST00000353234.4	-	12	2261	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000540940.1_Silent_p.T543T|ANKS6_ENST00000375019.2_Silent_p.T437T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6			21		Acute lymphoblastic leukemia(62;0.0527)			AGGGGGAGGGCGTGAGGGTTG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000353234.4	1	1	hg19	CCDS43856.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	8.376	0.836505	0.16891	0.0	4.79E-4	ENSG00000165138	ENST00000444472	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49790	-0.8902	4	.	.	.	-16.4068	5.6656	0.17693	0.1426:0.5694:0.1748:0.1131	.	.	.	.	T	208	.	.	A	-	1	0	ANKS6	100558635	0.000000	0.05858	0.506000	0.27664	0.876000	0.50452	-3.351000	0.00501	-2.143000	0.00803	-0.350000	0.07774	GCC		TCGA-IB-7651-01A-11D-2154-08	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	1	0	1	72	273	0	61	1	9.862488e-01	13	15	0	61	2		0	0	0	0	0	2	1	1	72	265	0	61	2								-3.096392	1	1	120918	8	44	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKS6	203286	broad.mit.edu	37	9	101536254	101536254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536254G>A	ENST00000353234.4	-	9	1773	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W|ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6			21		Acute lymphoblastic leukemia(62;0.0527)			TGACGCGTCCGGGACCGATCA	0.642000																								0							SO:0001583	missense			ENST00000353234.4	1	1	hg19	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.584812|3.584812	0.65992|0.65992	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.74315	.|1.34;-0.82;-0.83;1.59	5.48|5.48	2.3|2.3	0.28687|0.28687	.|.	.|0.176999	.|0.48767	.|D	.|0.000176	T|T	0.79341|0.79341	0.4429|0.4429	M|M	0.63843|0.63843	1.955|1.955	0.32320|0.32320	N|N	0.562519|0.562519	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.56916	.|0.809;0.65	D|D	0.83447|0.83447	0.0046|0.0046	5|10	.|0.87932	.|D	.|0	-8.574|-8.574	12.0034|12.0034	0.53243|0.53243	0.0:0.0:0.3685:0.6315|0.0:0.0:0.3685:0.6315	.|.	.|576;576	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	L|W	44|275;576;576;381	.|ENSP00000364159:R275W;ENSP00000364158:R576W;ENSP00000297837:R576W;ENSP00000442189:R381W	.|ENSP00000297837:R576W	P|R	-|-	2|1	0|2	ANKS6|ANKS6	100576075|100576075	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.591000|0.591000	0.36615|0.36615	3.055000|3.055000	0.49916|0.49916	0.597000|0.597000	0.29811|0.29811	0.561000|0.561000	0.74099|0.74099	CCG|CGG		TCGA-IB-7651-01A-11D-2154-08	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	1	0	1	65	308	0	47	1	9.878719e-01	16	19	0	47	2		0	0	0	0	0	2	1	1	65	302	0	47	2								-2.630702	1	1	120848	3	36	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKS6	203286	broad.mit.edu	37	9	101536359	101536359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536359G>A	ENST00000353234.4	-	9	1668	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6			21		Acute lymphoblastic leukemia(62;0.0527)			GCTCCGTTTCGAAGCTGAAAA	0.557000																								0							SO:0001587	stop_gained			ENST00000353234.4	0	1	hg19	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.348455|5.348455	0.95807|0.95807	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	.|.	.|.	.|.	5.48|5.48	4.5|4.5	0.54988|0.54988	.|.	0.107337|.	0.64402|.	D|.	0.000008|.	.|T	.|0.61009	.|0.2313	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67658	.|-0.5614	.|3	0.02654|.	T|.	1|.	-11.1796|-11.1796	12.2897|12.2897	0.54810|0.54810	0.0:0.0:0.7562:0.2438|0.0:0.0:0.7562:0.2438	.|.	.|.	.|.	.|.	X|L	240;541;541;346|9	.|.	ENSP00000297837:R541X|.	R|S	-|-	1|2	2|0	ANKS6|ANKS6	100576180|100576180	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.954000|0.954000	0.61252|0.61252	4.849000|4.849000	0.62882|0.62882	2.580000|2.580000	0.87095|0.87095	0.561000|0.561000	0.74099|0.74099	CGA|TCG		TCGA-IB-7651-01A-11D-2154-08	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	1	0	1	30	181	0	36	0	9.528873e-01	1	32	0	36	2		0	0	0	0	0	2	1	1	30	171	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999503	0.990000	1	9.900000e-01	1
ANKS6	203286	broad.mit.edu	37	9	101552487	101552487	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101552487A>G	ENST00000353234.4	-	2	808	c.761T>C	c.(760-762)cTc>cCc	p.L254P	ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Missense_Mutation_p.L59P|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6			21		Acute lymphoblastic leukemia(62;0.0527)			CAGCACGCTGAGGTGGTCAGG	0.657000																								0							SO:0001583	missense			ENST00000353234.4	1	1	hg19	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123693	0.56613	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.64260	0.59;0.59;-0.09	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.255608	0.37219	N	0.002190	T	0.62575	0.2439	N	0.16166	0.38	0.58432	D	0.999999	D	0.71674	0.998	D	0.69824	0.966	T	0.62618	-0.6816	10	0.29301	T	0.29	-18.4596	13.5146	0.61533	1.0:0.0:0.0:0.0	.	254	Q68DC2	ANKS6_HUMAN	P	254;254;59	ENSP00000364158:L254P;ENSP00000297837:L254P;ENSP00000442189:L59P	ENSP00000297837:L254P	L	-	2	0	ANKS6	100592308	1.000000	0.71417	0.987000	0.45799	0.775000	0.43874	6.096000	0.71446	2.079000	0.62486	0.459000	0.35465	CTC		TCGA-IB-7651-01A-11D-2154-08	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	0	0	0	12	388	0	77	0	1.946490e-01	1	24	0	77	2		0	0	0	0	0	2	1	9.991325e-01	12	387	0	74	2								-11.924720	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.340000	0.180000	0.560000	0.340000	0.364036	0.340000	0	2.600000e-01	4.600000e-01
COL15A1	1306	broad.mit.edu	37	9	101747863	101747863	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101747863T>C	ENST00000375001.3	+	3	540	c.117T>C	c.(115-117)ggT>ggC	p.G39G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1			107		Acute lymphoblastic leukemia(62;0.0562)			CTTCCCAGGGTCACCTGGACC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000375001.3	1	1	hg19	CCDS35081.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	1	0	1	25	141	0	30	0	1	0	264	0	30	2		0	0	0	0	0	2	1	9.999999e-01	25	137	0	30	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999373	0.990000	1	9.900000e-01	1
COL15A1	1306	broad.mit.edu	37	9	101748190	101748190	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101748190G>T	ENST00000375001.3	+	3	867	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1			107		Acute lymphoblastic leukemia(62;0.0562)			TGTCCCAAGAGGCTGCTGCCT	0.607000																								0							SO:0001583	missense			ENST00000375001.3	1	1	hg19	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377008	0.42105	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73258	-0.73	5.25	2.34	0.29019	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.288347	0.37261	N	0.002174	T	0.79311	0.4424	M	0.79475	2.455	0.33746	D	0.620079	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.992	T	0.79017	-0.1975	10	0.19147	T	0.46	-12.1142	8.0718	0.30693	0.3319:0.0:0.6681:0.0	.	148;118	P39059;B3KTP7	COFA1_HUMAN;.	D	148;118	ENSP00000364140:E148D	ENSP00000364140:E148D	E	+	3	2	COL15A1	100788011	0.660000	0.27420	0.955000	0.39395	0.740000	0.42216	-0.118000	0.10692	0.280000	0.22209	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	1	0	0	59	593	0	114	0	1	0	261	0	114	2		0	0	0	0	0	2	1	1	58	576	0	113	2								-16.378850	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.790000	1.000000	1.000000	0.966728	0.990000	1	9.000000e-01	1
COL15A1	1306	broad.mit.edu	37	9	101782700	101782700	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101782700A>G	ENST00000375001.3	+	12	2100	c.1677A>G	c.(1675-1677)ggA>ggG	p.G559G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1			107		Acute lymphoblastic leukemia(62;0.0562)			GAATGAAAGGACAGGCTGGGC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000375001.3	1	1	hg19	CCDS35081.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	1	0	1	35	212	0	54	0	1	0	235	0	54	2		0	0	0	0	0	2	1	1	35	209	0	54	2								-17.216200	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999755	0.990000	1	9.900000e-01	1
TGFBR1	7046	broad.mit.edu	37	9	101904853	101904853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101904853G>A	ENST00000374994.4	+	5	958	c.841G>A	c.(841-843)Gat>Aat	p.D281N	TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1			27		Acute lymphoblastic leukemia(62;0.0559)			GTTGGTGTCAGATTATCATGA	0.408000																								0							SO:0001583	missense			ENST00000374994.4	1	1	hg19	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598606	0.96614	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.94222	3.51	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.62740	0.906;0.866	D	0.98016	1.0368	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	204;281	P36897-3;P36897	.;TGFR1_HUMAN	N	281;281;204;285;212	ENSP00000364133:D281N;ENSP00000364129:D204N;ENSP00000447297:D285N;ENSP00000450052:D212N	ENSP00000364129:D204N	D	+	1	0	TGFBR1	100944674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.755000	0.98912	2.941000	0.99782	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	1	0	1	37	426	0	105	1	9.998436e-01	22	130	0	105	2	1	1	38	390	0	382	2	1	1	37	415	0	105	2								-10.237480	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.900000	0.650000	1.000000	1.000000	0.894433	0.900000	1	7.700000e-01	1
NR4A3	8013	broad.mit.edu	37	9	102590550	102590550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102590550G>A	ENST00000395097.2	+	3	955	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	NR4A3_ENST00000330847.1_Missense_Mutation_p.V87M|NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)			Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)			GCCTTCCTGCGTGTACCAAAT	0.602000			T	EWSR1	extraskeletal myxoid chondrosarcoma										Dom	yes		9	9q22	8013	nuclear receptor subfamily 4, group A, member 3 (NOR1)		M	0							SO:0001583	missense			ENST00000395097.2	1	1	hg19	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514878	0.44763	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.76;-2.33;-2.78	5.47	2.57	0.30868	.	3.416260	0.01217	N	0.007998	T	0.81659	0.4869	N	0.08118	0	0.28909	N	0.892828	B;B;B	0.31459	0.117;0.071;0.324	B;B;B	0.23716	0.048;0.022;0.048	T	0.73503	-0.3962	10	0.72032	D	0.01	.	7.4995	0.27509	0.0:0.5911:0.2697:0.1391	.	87;76;76	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	M	76;76;87	ENSP00000378531:V76M;ENSP00000340301:V76M;ENSP00000333122:V87M	ENSP00000333122:V87M	V	+	1	0	NR4A3	101630371	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.037000	0.30241	0.341000	0.23771	-0.357000	0.07601	GTG		TCGA-IB-7651-01A-11D-2154-08	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1	1	0	1	60	343	0	84	0	1.668228e-01	0	5	0	84	2		0	0	0	0	0	2	1	1	59	330	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
NR4A3	8013	broad.mit.edu	37	9	102595604	102595604	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102595604G>A	ENST00000395097.2	+	5	1851	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	NR4A3_ENST00000330847.1_Silent_p.L385L|NR4A3_ENST00000338488.4_Silent_p.L374L	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)			Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)			GAGGTCGTCTGCCTTCCAAAC	0.453000			T	EWSR1	extraskeletal myxoid chondrosarcoma										Dom	yes		9	9q22	8013	nuclear receptor subfamily 4, group A, member 3 (NOR1)		M	0							SO:0001819	synonymous_variant			ENST00000395097.2	1	1	hg19	CCDS6743.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1	1	0	1	65	344	0	81	0	4.343518e-01	1	8	0	81	2		0	0	0	0	0	2	1	1	64	338	0	80	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERP44	23071	broad.mit.edu	37	9	102747327	102747327	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102747327G>A	ENST00000262455.6	-	11	1240	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44			19					AGTCAAATACGAATTGCTTGA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000262455.6	1	1	hg19	CCDS35082.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	1	0	1	28	122	0	37	1	1	108	450	0	37	2		0	0	0	0	0	2	1	1	28	120	0	37	2								-3.277532	1	1	121412	10	36	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999958	0.990000	1	9.900000e-01	1
TMEFF1	8577	broad.mit.edu	37	9	103312424	103312424	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103312424T>C	ENST00000374879.4	+	7	1189	c.757T>C	c.(757-759)Tat>Cat	p.Y253H	TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1			19		Acute lymphoblastic leukemia(62;0.0452)			TGGACTACAATATCGACCAGA	0.353000																								0							SO:0001583	missense			ENST00000374879.4	1	1	hg19	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.99|12.99	2.102245|2.102245	0.37145|0.37145	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.58060	.|0.39;0.36	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.341708	.|0.31624	.|N	.|0.007334	T|T	0.35393|0.35393	0.0930|0.0930	N|N	0.14661|0.14661	0.345|0.345	0.36267|0.36267	D|D	0.854935|0.854935	.|P;P	.|0.41366	.|0.747;0.545	.|B;B	.|0.42738	.|0.396;0.149	T|T	0.40478|0.40478	-0.9561|-0.9561	5|10	.|0.16420	.|T	.|0.52	-36.4037|-36.4037	9.3072|9.3072	0.37883|0.37883	0.1602:0.0:0.0:0.8398|0.1602:0.0:0.0:0.8398	.|.	.|253;214	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	T|H	216|214;253	.|ENSP00000334447:Y214H;ENSP00000364013:Y253H	.|ENSP00000334447:Y214H	I|Y	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1	102352245|102352245	0.999000|0.999000	0.42202|0.42202	0.949000|0.949000	0.38748|0.38748	0.979000|0.979000	0.70002|0.70002	3.771000|3.771000	0.55318|0.55318	2.182000|2.182000	0.69389|0.69389	0.477000|0.477000	0.44152|0.44152	ATA|TAT		TCGA-IB-7651-01A-11D-2154-08	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	0	0	1	55	251	0	63	0	9.218525e-01	1	21	0	63	2		0	0	0	0	0	2	1	1	53	244	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPPR1	0	broad.mit.edu	37	9	104071653	104071653	+	Missense_Mutation	SNP	T	T	G	rs139319180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104071653T>G	ENST00000374874.3	+	5	985	c.546T>G	c.(544-546)tgT>tgG	p.C182W	LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN									GGAACATTTGTACTGGGGACC	0.507000																								0							SO:0001583	missense			ENST00000374874.3	1	0	hg19	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765742	0.69878	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.76968	-1.06;-1.06	5.32	-8.08	0.01094	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90317	0.6971	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90954	0.4807	10	0.87932	D	0	-6.3471	21.8754	0.99962	0.0:0.8477:0.0:0.1523	.	166;182	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	W	182	ENSP00000364008:C182W;ENSP00000378496:C182W	ENSP00000364005:C182W	C	+	3	2	RP11-35N6.1	103111474	0.934000	0.31675	0.180000	0.23079	0.970000	0.65996	0.094000	0.15107	-1.516000	0.01782	-0.353000	0.07706	TGT		TCGA-IB-7651-01A-11D-2154-08	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1	0	0	1	58	358	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	1	57	353	0	65	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
BAAT	570	broad.mit.edu	37	9	104124866	104124866	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104124866G>T	ENST00000395051.3	-	3	1171	c.1101C>A	c.(1099-1101)ccC>ccA	p.P367P	BAAT_ENST00000259407.2_Silent_p.P367P			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase			23		Acute lymphoblastic leukemia(62;0.0559)		Glycine(DB00145)	GAGGAGAATAGGGAGGTTCTA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000395051.3	1	1	hg19	CCDS6752.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1	1	0	1	57	227	0	68	1	9.875960e-01	5	25	0	68	2		0	0	0	0	0	2	1	1	57	221	0	68	2								-3.174563	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BAAT	570	broad.mit.edu	37	9	104130535	104130535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104130535C>T	ENST00000395051.3	-	2	606	c.536G>A	c.(535-537)aGc>aAc	p.S179N	BAAT_ENST00000259407.2_Missense_Mutation_p.S179N			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase			23		Acute lymphoblastic leukemia(62;0.0559)		Glycine(DB00145)	GGCTAGGAGGCTGGCCCGAAA	0.473000																								0							SO:0001583	missense			ENST00000395051.3	1	1	hg19	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601316	0.46423	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.42131	0.98;0.98	4.47	4.47	0.54385	.	0.075012	0.56097	D	0.000039	T	0.71091	0.3299	M	0.92738	3.34	0.34653	D	0.721905	D	0.89917	1.0	D	0.74348	0.983	D	0.84447	0.0586	10	0.87932	D	0	-14.1565	14.709	0.69215	0.0:1.0:0.0:0.0	.	179	Q14032	BAAT_HUMAN	N	179	ENSP00000259407:S179N;ENSP00000378491:S179N	ENSP00000259407:S179N	S	-	2	0	BAAT	103170356	0.041000	0.20044	0.970000	0.41538	0.167000	0.22549	3.001000	0.49488	2.328000	0.79073	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1	1	0	1	64	272	0	62	1	8.804757e-01	8	10	0	62	2		0	0	0	0	0	2	1	1	61	242	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF189	7743	broad.mit.edu	37	9	104170227	104170227	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170227T>C	ENST00000339664.2	+	3	306	c.177T>C	c.(175-177)gaT>gaC	p.D59D	ZNF189_ENST00000374861.3_Silent_p.D45D|ZNF189_ENST00000259395.4_Silent_p.D17D	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189			26		Acute lymphoblastic leukemia(62;0.0559)			TGAACAGAGATAAGGATGAGG	0.358000																								0							SO:0001819	synonymous_variant			ENST00000339664.2	1	1	hg19	CCDS6754.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	1	0	1	13	81	0	21	1	9.992404e-01	15	68	0	21	2		0	0	0	0	0	2	1	9.996649e-01	13	81	0	21	2								-19.997970	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.840000	1.000000	1.000000	0.989992	0.990000	1	9.900000e-01	1
ZNF189	7743	broad.mit.edu	37	9	104170805	104170805	+	Missense_Mutation	SNP	G	G	T	rs150965680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170805G>T	ENST00000339664.2	+	3	884	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF189_ENST00000374861.3_Missense_Mutation_p.R238M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189			26		Acute lymphoblastic leukemia(62;0.0559)			AAACATCAAAGGATTCATACA	0.423000																								0							SO:0001583	missense			ENST00000339664.2	1	1	hg19	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669524	0.47677	2.27E-4	0.0	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.02472	4.28;4.28;4.28	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.13072	0.0317	M	0.63428	1.95	0.38357	D	0.944495	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.978;0.977	T	0.00197	-1.1930	10	0.87932	D	0	.	15.8947	0.79325	0.0:0.0:1.0:0.0	.	237;238;252	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	M	238;252;210	ENSP00000363995:R238M;ENSP00000342019:R252M;ENSP00000259395:R210M	ENSP00000259395:R210M	R	+	2	0	ZNF189	103210626	0.035000	0.19736	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.882000	0.98803	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	1	0	1	216	932	0	267	1	9.999987e-01	15	66	0	267	2		0	0	0	0	0	2	1	1	214	912	0	266	2								-20.000000	1	1	121412	1	29	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALDOB	229	broad.mit.edu	37	9	104193076	104193076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104193076C>T	ENST00000374855.4	-	2	218	c.94G>A	c.(94-96)Gct>Act	p.A32T	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate			24		Acute lymphoblastic leukemia(62;0.0559)			TCATCTGCAGCCAGGATCCCC	0.428000																								0							SO:0001583	missense			ENST00000374855.4	1	1	hg19	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243158	0.95272	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.93547	-3.24	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.82433	2.59	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.96813	0.9598	10	0.62326	D	0.03	-18.5194	19.045	0.93016	0.0:1.0:0.0:0.0	.	32	P05062	ALDOB_HUMAN	T	32	ENSP00000363988:A32T	ENSP00000363988:A32T	A	-	1	0	ALDOB	103232897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2	1	0	1	46	203	0	51	1	1	97	75	0	51	2		0	0	0	0	0	2	1	1	46	200	0	51	2								-3.469887	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RNF20	56254	broad.mit.edu	37	9	104303164	104303164	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104303164G>A	ENST00000389120.3	+	5	625	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase			54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)			GGAACGTGTGGAGTCTTCCCG	0.517000																								0							SO:0001583	missense			ENST00000389120.3	1	1	hg19	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852273	0.71719	.	.	ENSG00000155827	ENST00000389120;ENST00000374819	T	0.79247	-1.25	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.68593	2.085	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.87856	0.2661	10	0.66056	D	0.02	-18.7071	17.0518	0.86521	0.0:0.0:1.0:0.0	.	179	Q5VTR2	BRE1A_HUMAN	K	179	ENSP00000373772:E179K	ENSP00000363952:E179K	E	+	1	0	RNF20	103342985	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.540000	0.82074	2.439000	0.82584	0.455000	0.32223	GAG		TCGA-IB-7651-01A-11D-2154-08	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	1	0	1	64	367	0	67	1	9.999865e-01	26	68	0	67	2		0	0	0	0	0	2	1	1	59	351	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GRIN3A	116443	broad.mit.edu	37	9	104390655	104390655	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104390655A>C	ENST00000361820.3	-	4	2981	c.2381T>G	c.(2380-2382)tTt>tGt	p.F794C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A			80		Acute lymphoblastic leukemia(62;0.0568)		Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GACAGTTCCAAAGCGGAATCC	0.363000																								0							SO:0001583	missense			ENST00000361820.3	1	1	hg19	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174941	0.78564	.	.	ENSG00000198785	ENST00000361820	T	0.27256	1.68	5.85	5.85	0.93711	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52749	-0.8534	10	0.49607	T	0.09	.	16.2421	0.82418	1.0:0.0:0.0:0.0	.	794	Q8TCU5	NMD3A_HUMAN	C	794	ENSP00000355155:F794C	ENSP00000355155:F794C	F	-	2	0	GRIN3A	103430476	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.962000	0.93254	2.234000	0.73211	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1	1	0	1	54	226	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	53	224	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN3A	116443	broad.mit.edu	37	9	104432737	104432737	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104432737A>C	ENST00000361820.3	-	3	2557	c.1957T>G	c.(1957-1959)Ttg>Gtg	p.L653V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A			80		Acute lymphoblastic leukemia(62;0.0568)		Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAGATGCCCAAGCTGGTGGAG	0.537000																								0							SO:0001583	missense			ENST00000361820.3	1	1	hg19	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134427	0.56828	.	.	ENSG00000198785	ENST00000361820	T	0.51574	0.7	5.63	4.5	0.54988	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000004	T	0.55862	0.1947	L	0.41961	1.31	0.53688	D	0.99997	P	0.47191	0.891	P	0.59825	0.864	T	0.54098	-0.8344	10	0.46703	T	0.11	.	11.7737	0.51972	0.931:0.0:0.069:0.0	.	653	Q8TCU5	NMD3A_HUMAN	V	653	ENSP00000355155:L653V	ENSP00000355155:L653V	L	-	1	2	GRIN3A	103472558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.160000	0.64929	1.084000	0.41184	0.473000	0.43528	TTG		TCGA-IB-7651-01A-11D-2154-08	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1	0	0	1	87	328	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1	87	317	0	98	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIN3A	116443	broad.mit.edu	37	9	104449311	104449311	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104449311G>T	ENST00000361820.3	-	2	1471	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A			80		Acute lymphoblastic leukemia(62;0.0568)		Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATAGAACCAAGGTGGAACTTG	0.483000																								0							SO:0001583	missense			ENST00000361820.3	1	1	hg19	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238174	0.58886	.	.	ENSG00000198785	ENST00000361820	T	0.12147	2.71	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.15782	0.0380	L	0.59436	1.845	0.52501	D	0.999952	B	0.29988	0.264	B	0.28011	0.085	T	0.02958	-1.1089	10	0.23891	T	0.37	.	14.2897	0.66268	0.0706:0.0:0.9294:0.0	.	291	Q8TCU5	NMD3A_HUMAN	I	291	ENSP00000355155:L291I	ENSP00000355155:L291I	L	-	1	0	GRIN3A	103489132	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	2.603000	0.46266	2.759000	0.94783	0.557000	0.71058	CTT		TCGA-IB-7651-01A-11D-2154-08	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1	1	0	1	63	405	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	63	396	0	92	2								-3.142759	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
CYLC2	1539	broad.mit.edu	37	9	105767015	105767015	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:105767015A>C	ENST00000374798.3	+	4	289	c.219A>C	c.(217-219)caA>caC	p.Q73H	CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2			41		all_hematologic(171;0.125)			ATCGTAGACAACCATTATGGA	0.373000																								0							SO:0001583	missense			ENST00000374798.3	1	1	hg19	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868610	0.32977	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14516	2.5;2.5	4.38	3.24	0.37175	.	1.048800	0.07642	N	0.930445	T	0.17323	0.0416	N	0.22421	0.69	0.23421	N	0.997713	D	0.62365	0.991	P	0.56088	0.791	T	0.23368	-1.0190	10	0.44086	T	0.13	-2.8804	6.5659	0.22511	0.8906:0.0:0.1094:0.0	.	73	Q14093	CYLC2_HUMAN	H	73	ENSP00000420256:Q73H;ENSP00000417674:Q73H	ENSP00000420256:Q73H	Q	+	3	2	CYLC2	104806836	0.079000	0.21365	0.679000	0.29978	0.248000	0.25809	0.671000	0.25172	0.838000	0.34948	0.482000	0.46254	CAA		TCGA-IB-7651-01A-11D-2154-08	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	1	0	0	18	138	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	9.999840e-01	16	136	0	54	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.800000	1.000000	1.000000	0.985051	0.990000	1	9.900000e-01	1
SMC2	10592	broad.mit.edu	37	9	106860764	106860764	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106860764G>A	ENST00000286398.7	+	4	644	c.356G>A	c.(355-357)gGa>gAa	p.G119E	SMC2_ENST00000303219.8_Missense_Mutation_p.G119E|SMC2_ENST00000374793.3_Missense_Mutation_p.G119E|SMC2_ENST00000374787.3_Missense_Mutation_p.G119E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2			48					TTAATCAATGGAGTCAATGCC	0.353000																								0							SO:0001583	missense			ENST00000286398.7	0	1	hg19	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039267	0.93630	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.42732	-0.9434	10	0.87932	D	0	-24.1498	18.9014	0.92444	0.0:0.0:1.0:0.0	.	119;119;119	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	E	119	ENSP00000286398:G119E;ENSP00000363925:G119E;ENSP00000306152:G119E;ENSP00000363919:G119E	ENSP00000286398:G119E	G	+	2	0	SMC2	105900585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.691000	0.98679	2.882000	0.98803	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0	0	0	9	404	0	64	0	1.660452e-01	0	30	0	64	2		0	0	0	0	0	2	1	9.937334e-01	9	395	0	62	2								-3.116604	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.250000	0.120000	0.440000	0.250000	0.271383	0.250000	0	1.800000e-01	3.500000e-01
SMC2	10592	broad.mit.edu	37	9	106875687	106875687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106875687G>T	ENST00000286398.7	+	11	1633	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2			48					GAAGGATCAAGAAGCTCTAGA	0.353000																								0							SO:0001587	stop_gained			ENST00000286398.7	0	1	hg19	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	40	8.432230	0.98808	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	4.86	3.96	0.45880	.	0.276742	0.42682	D	0.000671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8318	9.247	0.37532	0.1751:0.0:0.8249:0.0	.	.	.	.	X	449	.	ENSP00000286398:E449X	E	+	1	0	SMC2	105915508	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.341000	0.79300	1.265000	0.44215	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	1	0	1	47	259	0	71	0	9.583508e-01	0	31	0	71	2		0	0	0	0	0	2	1	1	47	256	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
SMC2	10592	broad.mit.edu	37	9	106896748	106896748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106896748C>T	ENST00000286398.7	+	23	3449	c.3161C>T	c.(3160-3162)gCt>gTt	p.A1054V	SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V|SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V|SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2			48					GGTGCTAATGCTATGCTTGCA	0.398000																								0							SO:0001583	missense			ENST00000286398.7	1	1	hg19	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406271	0.96051	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.79	5.79	0.91817	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45789	-0.9237	10	0.87932	D	0	-12.3446	18.6078	0.91272	0.0:1.0:0.0:0.0	.	1054	O95347	SMC2_HUMAN	V	1054	ENSP00000286398:A1054V;ENSP00000363925:A1054V;ENSP00000306152:A1054V;ENSP00000363919:A1054V	ENSP00000286398:A1054V	A	+	2	0	SMC2	105936569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.741000	0.93983	0.484000	0.47621	GCT		TCGA-IB-7651-01A-11D-2154-08	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0	0	1	14	387	0	50	1	5.247596e-01	8	40	0	50	2		0	0	0	0	0	2	1	9.997289e-01	14	379	0	50	2								-3.654700	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.400000	0.230000	0.630000	0.400000	0.419015	0.400000	0	3.000000e-01	5.200000e-01
OR13F1	138805	broad.mit.edu	37	9	107266825	107266825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107266825C>A	ENST00000334726.2	+	1	371	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1			31					CTATTTCATTCTCAGGGTGCG	0.517000																								0							SO:0001583	missense			ENST00000334726.2	1	1	hg19	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965343	0.34659	.	.	ENSG00000186881	ENST00000334726	T	0.00327	8.09	4.26	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00271	0.0008	M	0.64404	1.975	0.24525	N	0.994144	B	0.33022	0.394	B	0.33521	0.165	T	0.40251	-0.9573	10	0.66056	D	0.02	.	3.8682	0.09025	0.1898:0.6118:0.0:0.1984	.	94	Q8NGS4	O13F1_HUMAN	L	94	ENSP00000334452:F94L	ENSP00000334452:F94L	F	+	3	2	OR13F1	106306646	0.000000	0.05858	0.991000	0.47740	0.778000	0.44026	-0.041000	0.12084	0.759000	0.33084	-0.145000	0.13849	TTC		TCGA-IB-7651-01A-11D-2154-08	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1	1	0	1	81	383	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1	79	378	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR13C4	138804	broad.mit.edu	37	9	107288998	107288998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107288998G>A	ENST00000277216.3	-	1	492	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4			18					AAAGGCCATCGCATGGCAAGT	0.383000																								0							SO:0001587	stop_gained			ENST00000277216.3	0	1	hg19	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	g	5.300	0.240786	0.10077	0.0	1.16E-4	ENSG00000148136	ENST00000277216;ENST00000545903	.	.	.	4.12	-8.23	0.01033	.	2.814870	0.01724	U	0.028469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.676	0.17749	0.3553:0.0:0.1292:0.5156	.	.	.	.	X	165;194	.	ENSP00000277216:R165X	R	-	1	2	OR13C4	106328819	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-3.043000	0.00631	-1.604000	0.01595	-2.730000	0.00130	CGA		TCGA-IB-7651-01A-11D-2154-08	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1	0	0	0	92	490	1	113		0	0	0	1	113	2		0	0	0	0	0	2	1	1	90	481	1	113	17								-20.000000	1	0	121412	6	38	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR13C8	138802	broad.mit.edu	37	9	107332160	107332160	+	Missense_Mutation	SNP	T	T	G	rs150811269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107332160T>G	ENST00000335040.1	+	1	712	c.712T>G	c.(712-714)Ttc>Gtc	p.F238V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8			25					ACATAAGGCCTTCTCCACCTG	0.413000																								0							SO:0001583	missense			ENST00000335040.1	1	1	hg19	CCDS35090.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	16.44	3.122941	0.56613	0.0	2.33E-4	ENSG00000186943	ENST00000335040	T	0.00291	8.27	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.01029	0.0034	H	0.95402	3.665	0.31828	N	0.625145	D	0.76494	0.999	D	0.77004	0.989	T	0.01520	-1.1334	10	0.87932	D	0	.	12.791	0.57534	0.0:0.0:0.0:1.0	.	238	Q8NGS7	O13C8_HUMAN	V	238	ENSP00000334068:F238V	ENSP00000334068:F238V	F	+	1	0	OR13C8	106371981	0.762000	0.28451	1.000000	0.80357	0.996000	0.88848	1.275000	0.33144	2.181000	0.69327	0.459000	0.35465	TTC		TCGA-IB-7651-01A-11D-2154-08	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1	0	0	1	100	316	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1	99	309	0	59	2								-3.230606	1	1	121412	36	49	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR13C5	138799	broad.mit.edu	37	9	107360921	107360921	+	Missense_Mutation	SNP	C	C	T	rs76010537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107360921C>T	ENST00000374779.2	-	1	867	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5			28					GCTTCATGTACATGAGGAAGA	0.443000																								0							SO:0001583	missense			ENST00000374779.2	1	1	hg19	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271231	0.59649	.	.	ENSG00000255800	ENST00000374779	T	0.00145	8.67	4.03	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.395212	0.18447	U	0.140947	T	0.00178	0.0005	L	0.38175	1.15	0.22858	N	0.998648	P	0.44260	0.83	P	0.49085	0.6	T	0.42999	-0.9418	10	0.59425	D	0.04	.	6.158	0.20348	0.0:0.6722:0.0:0.3278	.	258	Q8NGS8	O13C5_HUMAN	I	258	ENSP00000363911:M258I	ENSP00000363911:M258I	M	-	3	0	OR13C5	106400742	0.038000	0.19896	0.950000	0.38849	0.296000	0.27459	0.068000	0.14531	0.925000	0.37094	0.423000	0.28283	ATG		TCGA-IB-7651-01A-11D-2154-08	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	1	0	1	77	298	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1	77	292	0	90	2								-20.000000	1	1	121406	1	30	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR13C9	286362	broad.mit.edu	37	9	107379810	107379810	+	Missense_Mutation	SNP	G	G	T	rs76552310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379810G>T	ENST00000259362.1	-	1	675	c.676C>A	c.(676-678)Ctc>Atc	p.L226I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9			22					TGAATCTTGAGGATGCTGGAA	0.438000																								0							SO:0001583	missense			ENST00000259362.1	1	1	hg19	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544183	0.27563	.	.	ENSG00000136839	ENST00000259362	T	0.00302	8.2	4.46	0.413	0.16401	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000864	T	0.00328	0.0010	M	0.86805	2.84	0.09310	N	1	B	0.25007	0.116	B	0.35813	0.211	T	0.43475	-0.9389	10	0.56958	D	0.05	.	3.2491	0.06807	0.2734:0.0:0.4165:0.3101	.	226	Q8NGT0	O13C9_HUMAN	I	226	ENSP00000259362:L226I	ENSP00000259362:L226I	L	-	1	0	OR13C9	106419631	0.014000	0.17966	0.039000	0.18376	0.929000	0.56500	0.301000	0.19174	0.138000	0.18790	0.643000	0.83706	CTC		TCGA-IB-7651-01A-11D-2154-08	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1	1	0	1	59	285	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1	58	278	0	82	2								-3.120955	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR13C9	286362	broad.mit.edu	37	9	107379988	107379988	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379988C>T	ENST00000259362.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9			22					TGCAGAAAGGCAATTGTACTA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000259362.1	1	1	hg19	CCDS35093.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1	1	0	0	60	383	0	110		0	0	0	0	110	2		0	0	0	0	0	2	1	1	60	378	0	108	2								-3.318893	1	1	121402	1	28	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
NIPSNAP3B	55335	broad.mit.edu	37	9	107528697	107528697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107528697C>T	ENST00000374762.3	+	2	223	c.152C>T	c.(151-153)gCg>gTg	p.A51V	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)			11					AATATGAATGCGTTCATGGAA	0.388000																								0							SO:0001583	missense			ENST00000374762.3	1	1	hg19	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541424	0.27563	.	.	ENSG00000165028	ENST00000374762	T	0.49139	0.79	3.93	-0.174	0.13319	Dimeric alpha-beta barrel (1);	0.311612	0.33591	N	0.004758	T	0.35913	0.0948	L	0.46157	1.445	0.29368	N	0.864236	P	0.35348	0.496	B	0.31390	0.129	T	0.30909	-0.9962	10	0.56958	D	0.05	-6.9514	11.2204	0.48851	0.527:0.473:0.0:0.0	.	51	Q9BS92	NPS3B_HUMAN	V	51	ENSP00000363894:A51V	ENSP00000363894:A51V	A	+	2	0	NIPSNAP3B	106568518	1.000000	0.71417	0.836000	0.33094	0.307000	0.27823	2.743000	0.47442	-0.130000	0.11599	-0.271000	0.10264	GCG		TCGA-IB-7651-01A-11D-2154-08	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	1	0	1	95	494	0	134	0	4.413320e-01	1	8	0	134	2		0	0	0	0	0	2	1	1	94	490	0	133	2								-20.000000	1	1	121412	1	35	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA1	19	broad.mit.edu	37	9	107546686	107546686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546686G>A	ENST00000374736.3	-	50	7090	c.6696C>T	c.(6694-6696)gaC>gaT	p.D2232D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1			115				Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GTAATGAGAGGTCTTTTAAGT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000374736.3	1	1	hg19	CCDS6762.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	1	61	318	0	89	1	9.989970e-01	3	53	0	89	2		0	0	0	0	0	2	1	1	61	314	0	89	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA1	19	broad.mit.edu	37	9	107547688	107547688	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107547688T>C	ENST00000374736.3	-	49	7028	c.6634A>G	c.(6634-6636)Aca>Gca	p.T2212A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1			115				Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGGTCAAGTGTTGTCTGAGAA	0.473000																								0							SO:0001583	missense			ENST00000374736.3	1	1	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	32	5.109080	0.94292	.	.	ENSG00000165029	ENST00000374736	D	0.89270	-2.49	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.89601	3.045	0.80722	D	1	D	0.56035	0.974	P	0.51701	0.677	D	0.94760	0.7935	10	0.87932	D	0	.	16.806	0.85666	0.0:0.0:0.0:1.0	.	2212	O95477	ABCA1_HUMAN	A	2212	ENSP00000363868:T2212A	ENSP00000363868:T2212A	T	-	1	0	ABCA1	106587509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.529000	0.55759	ACA		TCGA-IB-7651-01A-11D-2154-08	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	1	37	209	0	57	1	9.991807e-01	3	61	0	57	2		0	0	0	0	0	2	1	1	36	208	0	57	2								-18.935440	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999922	0.990000	1	9.900000e-01	1
ABCA1	19	broad.mit.edu	37	9	107589230	107589230	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107589230G>A	ENST00000374736.3	-	16	2730	c.2336C>T	c.(2335-2337)gCt>gTt	p.A779V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1			115				Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGTACTCACAGCGAAGATCTT	0.517000																								0							SO:0001630	splice_region_variant			ENST00000374736.3	1	0	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439234	0.43326	.	.	ENSG00000165029	ENST00000374736	D	0.84370	-1.84	5.45	0.529	0.17095	.	0.434585	0.26518	N	0.023925	T	0.73908	0.3647	L	0.31804	0.96	0.37658	D	0.922663	B	0.10296	0.003	B	0.20384	0.029	T	0.60727	-0.7206	10	0.26408	T	0.33	.	9.5601	0.39364	0.3416:0.0:0.6584:0.0	.	779	O95477	ABCA1_HUMAN	V	779	ENSP00000363868:A779V	ENSP00000363868:A779V	A	-	2	0	ABCA1	106629051	0.965000	0.33210	0.001000	0.08648	0.573000	0.36030	2.795000	0.47861	-0.170000	0.10816	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	1	32	161	0	47	1	9.385640e-01	2	24	0	47	2		0	0	0	0	0	2	1	1	32	155	0	46	2								-20.000000	1	1	121412	1	32	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999943	0.990000	1	9.900000e-01	1
ABCA1	19	broad.mit.edu	37	9	107591298	107591298	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107591298G>A	ENST00000374736.3	-	15	2408	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1			115				Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCATGATCCGCATGGTCTCT	0.527000																								0							SO:0001583	missense			ENST00000374736.3	1	1	hg19	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211998	0.79240	.	.	ENSG00000165029	ENST00000374736	D	0.84660	-1.88	6.02	4.03	0.46877	.	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94063	0.7328	10	0.87932	D	0	.	12.6248	0.56623	0.0:0.0:0.4481:0.5519	.	672	O95477	ABCA1_HUMAN	W	672	ENSP00000363868:R672W	ENSP00000363868:R672W	R	-	1	2	ABCA1	106631119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.208000	0.51114	1.549000	0.49425	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	1	53	230	0	73	0	9.694290e-01	0	27	0	73	2		0	0	0	0	0	2	1	1	53	226	0	72	2								-3.307836	1	1	121412	3	37	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC44A1	23446	broad.mit.edu	37	9	108110647	108110647	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108110647C>A	ENST00000374720.3	+	5	662	c.415C>A	c.(415-417)Cta>Ata	p.L139I	SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1			38				Choline(DB00122)	AGGTTCAGCCCTATGTAGCTA	0.353000																								0							SO:0001583	missense			ENST00000374720.3	1	1	hg19	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511130	0.44660	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.80123	-1.34;-1.34;-1.34	5.39	3.3	0.37823	.	0.000000	0.64402	D	0.000001	T	0.78861	0.4350	M	0.62266	1.93	0.80722	D	1	B;B	0.30482	0.281;0.023	B;B	0.42214	0.38;0.007	T	0.70905	-0.4745	10	0.21014	T	0.42	-5.5214	7.2023	0.25887	0.0:0.6409:0.0:0.3591	.	139;139	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	I	139	ENSP00000363855:L139I;ENSP00000363852:L139I;ENSP00000363856:L139I	ENSP00000363852:L139I	L	+	1	2	SLC44A1	107150468	0.997000	0.39634	0.999000	0.59377	0.926000	0.56050	1.398000	0.34554	1.276000	0.44395	0.609000	0.83330	CTA		TCGA-IB-7651-01A-11D-2154-08	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	1	0	1	78	346	0	66	1	1	84	276	0	66	2		0	0	0	0	0	2	1	1	77	330	0	64	2								-2.771612	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC44A1	23446	broad.mit.edu	37	9	108136980	108136980	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108136980C>T	ENST00000374720.3	+	13	1843	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC44A1_ENST00000374723.1_Silent_p.I532I|SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374724.1_Silent_p.I532I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1			38				Choline(DB00122)	TGGCTACCATCAACACAGTAG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000374720.3	1	1	hg19	CCDS6763.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	0	0	1	103	491	0	132	1	1	111	466	0	132	2		0	0	0	0	0	2	1	1	102	485	0	131	2								-2.990807	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FKTN	2218	broad.mit.edu	37	9	108366669	108366669	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108366669C>T	ENST00000223528.2	+	5	667	c.543C>T	c.(541-543)ggC>ggT	p.G181G	FKTN_ENST00000540160.1_Silent_p.G181G|FKTN_ENST00000448551.2_Silent_p.G181G|FKTN_ENST00000357998.5_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin			25					AGAGGAGTGGCAACTACCTCT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000223528.2	1	1	hg19	CCDS6766.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	1	0	1	65	362	0	106	1	9.807861e-01	4	33	0	106	2		0	0	0	0	0	2	1	1	62	359	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TAL2	6887	broad.mit.edu	37	9	108424910	108424910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108424910C>T	ENST00000334077.3	+	1	173	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2								TGAAACGCTTCGCCTGGCAAT	0.537000			T	TRB@	T-ALL										Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	0							SO:0001583	missense			ENST00000334077.3	1	1	hg19	CCDS6767.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.6	4.435289	0.83885	.	.	ENSG00000186051	ENST00000334077	D	0.98280	-4.84	5.52	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98463	1.0597	10	0.87932	D	0	-13.6534	12.6354	0.56681	0.2812:0.7188:0.0:0.0	.	45	Q16559	TAL2_HUMAN	C	45	ENSP00000334547:R45C	ENSP00000334547:R45C	R	+	1	0	TAL2	107464731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.757000	0.94681	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	1	0	1	56	232	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	56	224	0	63	2								-3.562768	1	1	121412	3	37	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF462	58499	broad.mit.edu	37	9	109686536	109686536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109686536C>T	ENST00000277225.5	+	3	632	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	p.R115S(1)		119					GTTCTGTGTACGCTACTTCAG	0.473000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000277225.5	1	1	hg19	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241105	0.58995	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.10288	2.89;3.36	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00254	-1.1874	9	.	.	.	.	19.525	0.95201	0.0:1.0:0.0:0.0	.	115	Q96JM2	ZN462_HUMAN	C	115	ENSP00000277225:R115C;ENSP00000414570:R115C	.	R	+	1	0	ZNF462	108726357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.628000	0.89032	0.467000	0.42956	CGC		TCGA-IB-7651-01A-11D-2154-08	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	1	52	241	0	75	0	4.342507e-01	1	7	0	75	2		0	0	0	0	0	2	1	1	52	239	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF462	58499	broad.mit.edu	37	9	109689396	109689396	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689396G>A	ENST00000277225.5	+	3	3492	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462			119					AAAACTATGCGAATGGTGTCT	0.483000																								0							SO:0001583	missense			ENST00000277225.5	1	1	hg19	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070111	0.76301	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07688	3.17;3.62	5.6	5.6	0.85130	.	0.057625	0.64402	D	0.000004	T	0.20861	0.0502	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.59115	0.852;0.644	T	0.00083	-1.2101	10	0.66056	D	0.02	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	1068;1068	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Q	1068	ENSP00000277225:R1068Q;ENSP00000414570:R1068Q	ENSP00000277225:R1068Q	R	+	2	0	ZNF462	108729217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.526000	0.81920	2.630000	0.89119	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	1	147	633	0	133	1	4.633940e-01	3	5	0	133	2		0	0	0	0	0	2	1	1	145	620	0	133	2								-20.000000	1	1	121412	3	39	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF462	58499	broad.mit.edu	37	9	109689673	109689673	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689673C>T	ENST00000277225.5	+	3	3769	c.3480C>T	c.(3478-3480)gtC>gtT	p.V1160V	ZNF462_ENST00000441147.2_Silent_p.V5V|ZNF462_ENST00000457913.1_Silent_p.V1160V			Q96JM2	ZN462_HUMAN	zinc finger protein 462			119					TGAGAGGGGTCGAAGGGCCCC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000277225.5	1	1	hg19	CCDS35096.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	0	172	628	0	152	0	6.681312e-01	0	10	0	152	2		0	0	0	0	0	2	1	1	166	619	0	147	2								-4.175961	1	1	121410	17	46	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF462	58499	broad.mit.edu	37	9	109690160	109690160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109690160G>A	ENST00000277225.5	+	3	4256	c.3967G>A	c.(3967-3969)Gag>Aag	p.E1323K	ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K|ZNF462_ENST00000457913.1_Missense_Mutation_p.E1323K			Q96JM2	ZN462_HUMAN	zinc finger protein 462			119					CTCCCATACGGAGCCCAACGG	0.532000																								0							SO:0001583	missense			ENST00000277225.5	0	1	hg19	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160685	0.94727	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06218	3.33;3.74;3.89;3.9	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	N	0.19112	0.55	0.80722	D	1	P;B	0.46277	0.875;0.351	P;B	0.50405	0.64;0.277	T	0.13953	-1.0490	10	0.52906	T	0.07	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	1323;1323	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1323;1323;206;168	ENSP00000277225:E1323K;ENSP00000414570:E1323K;ENSP00000363818:E206K;ENSP00000397306:E168K	ENSP00000277225:E1323K	E	+	1	0	ZNF462	108729981	1.000000	0.71417	0.946000	0.38457	0.842000	0.47809	9.397000	0.97276	2.509000	0.84616	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	0	0	0	11	608	0	159	0	1.612798e-02	0	10	0	159	2		0	0	0	0	0	2	1	9.982441e-01	11	601	0	157	2								-3.035308	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.200000	0.100000	0.350000	0.200000	0.218673	0.200000	0	1.500000e-01	2.800000e-01
ZNF462	58499	broad.mit.edu	37	9	109694764	109694764	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109694764C>T	ENST00000277225.5	+	5	6339	c.6050C>T	c.(6049-6051)gCc>gTc	p.A2017V	ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V			Q96JM2	ZN462_HUMAN	zinc finger protein 462			119					CTGGCCCTGGCCATGTTTACC	0.547000																								0							SO:0001583	missense			ENST00000277225.5	0	1	hg19	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171487	0.78452	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05996	3.36;3.85;3.95;3.96	4.78	4.78	0.61160	.	0.062198	0.64402	D	0.000004	T	0.07098	0.0180	N	0.19112	0.55	0.80722	D	1	P;P	0.51057	0.921;0.941	P;P	0.46917	0.485;0.531	T	0.52132	-0.8616	10	0.15952	T	0.53	.	17.9881	0.89160	0.0:1.0:0.0:0.0	.	2077;2017	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	V	2017;2077;960;923	ENSP00000277225:A2017V;ENSP00000414570:A2077V;ENSP00000363818:A960V;ENSP00000397306:A923V	ENSP00000277225:A2017V	A	+	2	0	ZNF462	108734585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	2.488000	0.83962	0.591000	0.81541	GCC		TCGA-IB-7651-01A-11D-2154-08	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	0	0	0	6	302	0	77	1	1.140677e-01	2	23	0	77	2		0	0	0	0	0	2	1	9.631965e-01	6	296	0	76	2								-6.552217	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.230000	0.090000	0.450000	0.220000	0.253066	0.230000	0	1.500000e-01	3.400000e-01
ZNF462	58499	broad.mit.edu	37	9	109734376	109734376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109734376C>A	ENST00000277225.5	+	8	6807	c.6518C>A	c.(6517-6519)cCt>cAt	p.P2173H	ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462			119					CGTGTTAGCCCTGTGCCTCTT	0.532000																								0							SO:0001583	missense			ENST00000277225.5	1	1	hg19	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628355	0.87560	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.16073	3.35;3.85;3.94;3.94;2.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.00482	-1.1713	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2233;74;2173	Q96JM2-3;Q5T0T2;Q96JM2	.;.;ZN462_HUMAN	H	2173;2233;1116;1079;130	ENSP00000277225:P2173H;ENSP00000414570:P2233H;ENSP00000363818:P1116H;ENSP00000397306:P1079H;ENSP00000439771:P130H	ENSP00000277225:P2173H	P	+	2	0	ZNF462	108774197	0.992000	0.36948	0.995000	0.50966	0.996000	0.88848	2.991000	0.49409	2.941000	0.99782	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	0	27	293	0	80	1	6.623191e-01	2	24	0	80	2		0	0	0	0	0	2	1	1	27	287	0	80	2								-3.318794	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.950000	0.650000	1.000000	1.000000	0.916656	0.950000	1	7.900000e-01	1
ZNF462	58499	broad.mit.edu	37	9	109746472	109746472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109746472C>T	ENST00000277225.5	+	10	7127	c.6838C>T	c.(6838-6840)Cgt>Tgt	p.R2280C	ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	p.R2280C(1)		119					CACAGAAGAGCGTGTTGTCCC	0.418000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000277225.5	1	1	hg19	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712064	0.68730	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.17054	3.29;3.78;3.87;3.85;2.3	5.67	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50127	-0.8864	10	0.87932	D	0	.	14.8015	0.69919	0.5116:0.4884:0.0:0.0	.	2340;2280	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	2280;2340;1223;1186;237	ENSP00000277225:R2280C;ENSP00000414570:R2340C;ENSP00000363818:R1223C;ENSP00000397306:R1186C;ENSP00000439771:R237C	ENSP00000277225:R2280C	R	+	1	0	ZNF462	108786293	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	1.379000	0.34340	1.293000	0.44690	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	1	0	1	48	279	0	83	1	7.363195e-01	4	13	0	83	2		0	0	0	0	0	2	1	1	45	275	0	82	2								-3.225142	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
RAD23B	5887	broad.mit.edu	37	9	110084292	110084292	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110084292C>T	ENST00000358015.3	+	7	1061	c.710C>T	c.(709-711)gCt>gTt	p.A237V	RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)			14					GAAAGTCAGGCTGTGGTTGAC	0.433000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000358015.3	1	1	hg19	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671429	0.29693	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.19669	2.14;2.13	5.28	5.28	0.74379	.	0.149642	0.64402	D	0.000013	T	0.14874	0.0359	N	0.24115	0.695	0.49130	D	0.999759	B;B;B	0.29571	0.247;0.249;0.093	B;B;B	0.30572	0.117;0.082;0.05	T	0.07539	-1.0767	10	0.10902	T	0.67	-6.0997	15.6292	0.76888	0.0:0.8624:0.1376:0.0	.	216;237;237	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	V	237;165	ENSP00000350708:A237V;ENSP00000405623:A165V	ENSP00000350708:A237V	A	+	2	0	RAD23B	109124113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.643000	0.54374	2.626000	0.88956	0.555000	0.69702	GCT		TCGA-IB-7651-01A-11D-2154-08	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	1	0	1	35	140	0	41	1	1	205	517	0	41	2		0	0	0	0	0	2	1	1	34	139	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
KLF4	9314	broad.mit.edu	37	9	110248208	110248208	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110248208C>A	ENST00000374672.4	-	5	1738		c.e5-1			NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)			16					GGTTTCTCACCTGTAAAGGTA	0.463000																								0							SO:0001630	splice_region_variant			ENST00000374672.4	1	1	hg19	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708696	0.48517	.	.	ENSG00000136826	ENST00000374672	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLF4	109288029	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	7.818000	0.86416	2.536000	0.85505	0.462000	0.41574	.		TCGA-IB-7651-01A-11D-2154-08	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	1	0	1	65	266	0	70	1	7.559447e-01	13	0	0	70	2		0	0	0	0	0	2	1	1	65	263	0	69	2								-2.787513	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLF4	9314	broad.mit.edu	37	9	110249902	110249902	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110249902C>T	ENST00000374672.4	-	3	1246	c.773G>A	c.(772-774)aGc>aAc	p.S258N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)			16					CACCGGGTGGCTGCCGTCAGG	0.687000																								0							SO:0001583	missense			ENST00000374672.4	1	1	hg19	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090335	0.36855	.	.	ENSG00000136826	ENST00000374672	T	0.05580	3.42	4.68	4.68	0.58851	.	0.000000	0.49305	D	0.000155	T	0.04137	0.0115	N	0.19112	0.55	0.22435	N	0.999108	P;P	0.47302	0.808;0.893	B;B	0.33960	0.173;0.16	T	0.43081	-0.9413	10	0.40728	T	0.16	.	13.8346	0.63402	0.0:0.8459:0.1541:0.0	.	258;258	O43474;O43474-1	KLF4_HUMAN;.	N	258	ENSP00000363804:S258N	ENSP00000363804:S258N	S	-	2	0	KLF4	109289723	0.028000	0.19301	0.997000	0.53966	0.885000	0.51271	0.139000	0.16036	2.155000	0.67459	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	1	0	0	24	127	0	22	1	9.427620e-01	18	10	0	22	2		0	0	0	0	0	2	1	9.999987e-01	19	108	0	16	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999536	0.990000	1	9.900000e-01	1
ACTL7B	10880	broad.mit.edu	37	9	111617062	111617062	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111617062G>A	ENST00000374667.3	-	1	2177	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	p.G383G(1)		20					GGATGGAACCGCCGGTCCACA	0.657000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000374667.3	1	1	hg19	CCDS6771.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	1	0	1	55	442	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1	54	434	0	97	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.960000	1.000000	1.000000	0.997856	0.990000	1	9.900000e-01	1
ACTL7A	10881	broad.mit.edu	37	9	111625138	111625138	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111625138A>C	ENST00000333999.3	+	1	536	c.536A>C	c.(535-537)aAc>aCc	p.N179T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A			16					CCACACACCAACAGAGAGAAA	0.532000													Esophageal Squamous(177;1480 3591 17554)											0							SO:0001583	missense			ENST00000333999.3	1	1	hg19	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301479	0.81136	.	.	ENSG00000187003	ENST00000333999	D	0.97378	-4.36	5.98	5.98	0.97165	.	0.000000	0.50627	D	0.000102	D	0.98520	0.9506	M	0.87038	2.855	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.99548	1.0965	10	0.87932	D	0	.	14.4302	0.67243	1.0:0.0:0.0:0.0	.	179	Q9Y615	ACL7A_HUMAN	T	179	ENSP00000334300:N179T	ENSP00000334300:N179T	N	+	2	0	ACTL7A	110664959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.288000	0.76882	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	1	0	1	77	366	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	70	346	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IKBKAP	8518	broad.mit.edu	37	9	111653624	111653624	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111653624G>A	ENST00000374647.5	-	28	3326	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein			53					GCAAACATGAGCCCCGCTGGC	0.527000																								0							SO:0001583	missense			ENST00000374647.5	1	1	hg19	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191802	0.78902	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.33865	1.79;1.39	5.87	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.52901	0.1763	M	0.63428	1.95	0.47659	D	0.999484	D	0.89917	1.0	D	0.79784	0.993	T	0.50189	-0.8857	10	0.49607	T	0.09	-14.8029	9.4432	0.38681	0.1607:0.0:0.8393:0.0	.	1007	O95163	ELP1_HUMAN	F	1007;658	ENSP00000363779:L1007F;ENSP00000439367:L658F	ENSP00000363779:L1007F	L	-	1	0	IKBKAP	110693445	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	3.297000	0.51810	2.779000	0.95612	0.591000	0.81541	CTC		TCGA-IB-7651-01A-11D-2154-08	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1	1	0	1	64	322	0	71	1	9.992386e-01	21	35	0	71	2		0	0	0	0	0	2	1	1	62	318	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IKBKAP	8518	broad.mit.edu	37	9	111685171	111685171	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111685171G>A	ENST00000374647.5	-	6	810	c.503C>T	c.(502-504)aCa>aTa	p.T168I	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein			53					ATGGAACTGTGTCTCCTTCCT	0.398000																								0							SO:0001583	missense			ENST00000374647.5	1	1	hg19	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761755	0.89932	.	.	ENSG00000070061	ENST00000374647	T	0.55930	0.49	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85921	0.1446	10	0.87932	D	0	-12.1967	17.1551	0.86790	0.0:0.0:1.0:0.0	.	168	O95163	ELP1_HUMAN	I	168	ENSP00000363779:T168I	ENSP00000363779:T168I	T	-	2	0	IKBKAP	110724992	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	9.088000	0.94132	2.639000	0.89480	0.650000	0.86243	ACA		TCGA-IB-7651-01A-11D-2154-08	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1	1	0	1	112	454	0	104	1	9.999956e-01	34	39	0	104	2		0	0	0	0	0	2	1	1	110	447	0	103	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTNNAL1	8727	broad.mit.edu	37	9	111706086	111706086	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111706086T>C	ENST00000325551.4	-	17	2038	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.D651G|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1			25					AAGCTTGTCATCGTCTTTCAG	0.353000																								0							SO:0001583	missense			ENST00000325551.4	1	1	hg19	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608757	0.46527	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.54	5.54	0.83059	.	0.144107	0.64402	D	0.000007	T	0.65995	0.2745	M	0.64997	1.995	0.26154	N	0.980095	D;D;B;D	0.89917	1.0;0.961;0.002;0.961	D;P;B;P	0.87578	0.998;0.721;0.009;0.721	T	0.58808	-0.7571	10	0.11485	T	0.65	-21.7967	13.6804	0.62481	0.0:0.0:0.0:1.0	.	567;651;651;651	Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	G	651;651;567;52	ENSP00000363723:D651G;ENSP00000320434:D651G;ENSP00000323351:D567G;ENSP00000363722:D52G	ENSP00000320434:D651G	D	-	2	0	CTNNAL1	110745907	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	GAT		TCGA-IB-7651-01A-11D-2154-08	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	1	0	1	57	321	0	74	1	9.999997e-01	41	85	0	74	2		0	0	0	0	0	2	1	1	57	315	0	74	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
CTNNAL1	8727	broad.mit.edu	37	9	111761490	111761490	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111761490T>G	ENST00000325551.4	-	2	274	c.188A>C	c.(187-189)aAa>aCa	p.K63T	CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1			25					TTGCAGAGTTTTATCAGACTT	0.333000																								0							SO:0001583	missense			ENST00000325551.4	1	1	hg19	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848949	0.71603	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.93	5.93	0.95920	.	0.106328	0.64402	D	0.000006	T	0.61324	0.2338	M	0.72894	2.215	0.49798	D	0.999823	D;P;D	0.69078	0.997;0.941;0.997	D;P;D	0.65874	0.939;0.818;0.939	T	0.60757	-0.7200	10	0.38643	T	0.18	-23.9731	14.336	0.66589	0.0:0.0:0.0:1.0	.	63;63;63	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	T	63	ENSP00000363723:K63T;ENSP00000320434:K63T;ENSP00000323351:K63T;ENSP00000363721:K63T	ENSP00000320434:K63T	K	-	2	0	CTNNAL1	110801311	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.818000	0.62657	2.258000	0.74832	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	1	0	1	124	655	0	163	1	9.983851e-01	17	35	0	163	2		0	0	0	0	0	2	1	1	123	648	0	162	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB41L4B	54566	broad.mit.edu	37	9	111936884	111936884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111936884C>A	ENST00000374566.3	-	26	3170	c.2653G>T	c.(2653-2655)Gaa>Taa	p.E885*		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B			39					CTCTCCAGTTCCTGCCGGAGT	0.448000																								0							SO:0001587	stop_gained			ENST00000374566.3	0	1	hg19	CCDS43859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.425980|10.425980	0.99403|0.99403	.|.	.|.	ENSG00000095203|ENSG00000095203	ENST00000374566|ENST00000262536	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.419856	.|0.17679	.|N	.|0.165710	.|T	.|0.76821	.|0.4041	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76462	.|-0.2950	.|6	0.87932|0.49607	D|T	0|0.09	.|.	19.215|19.215	0.93772|0.93772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	885|569	.|.	ENSP00000363694:E885X|ENSP00000262536:G569V	E|G	-|-	1|2	0|0	EPB41L4B|EPB41L4B	110976705|110976705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.677000|5.677000	0.68142|0.68142	2.539000|2.539000	0.85634|0.85634	0.655000|0.655000	0.94253|0.94253	GAA|GGA		TCGA-IB-7651-01A-11D-2154-08	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	1	0	0	13	205	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	9.995556e-01	13	203	0	32	2								-5.483464	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.680000	0.380000	1.000000	1.000000	0.700907	0.680000	0	5.200000e-01	8.800000e-01
EPB41L4B	54566	broad.mit.edu	37	9	111938926	111938926	+	Silent	SNP	C	C	T	rs10979729	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111938926C>T	ENST00000374566.3	-	25	3055	c.2538G>A	c.(2536-2538)ccG>ccA	p.P846P		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B			39					CTGGGATCAGCGGGGAAGTCG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000374566.3	1	0	hg19	CCDS43859.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	0	0	1	40	261	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1	40	258	0	52	2								-2.739061	1	1	120870	8768	70	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999679	0.990000	1	9.900000e-01	1
EPB41L4B	54566	broad.mit.edu	37	9	111956567	111956567	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111956567G>T	ENST00000374566.3	-	21	2673	c.2156C>A	c.(2155-2157)cCc>cAc	p.P719H	RNU6-984P_ENST00000363236.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B			39					CTGGACCTTGGGGGACGGCAG	0.632000																								0							SO:0001583	missense			ENST00000374566.3	1	1	hg19	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511193	0.64522	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.92965	-3.14	5.49	5.49	0.81192	.	0.000000	0.37669	N	0.001986	D	0.94716	0.8295	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94895	0.8051	10	0.72032	D	0.01	.	14.8772	0.70504	0.0:0.0:1.0:0.0	.	719	Q9H329	E41LB_HUMAN	H	404;719	ENSP00000363694:P719H	ENSP00000262536:P404H	P	-	2	0	EPB41L4B	110996388	1.000000	0.71417	0.678000	0.29963	0.532000	0.34746	5.211000	0.65219	2.582000	0.87167	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	0	0	1	116	434	1	97		0	0	0	1	97	2		0	0	0	0	0	2	1	1	115	430	1	97	19								-3.268914	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EPB41L4B	54566	broad.mit.edu	37	9	112017853	112017853	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112017853C>T	ENST00000374566.3	-	11	1624	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_ENST00000374557.4_Silent_p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B			39					TGTTTCCTGGCGTCCGCAGTC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000374566.3	1	1	hg19	CCDS43859.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	1	0	1	80	341	0	94	1	9.951316e-01	6	31	0	94	2		0	0	0	0	0	2	1	1	80	338	0	93	2								-20.000000	1	1	120870	2	35	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPN3	5774	broad.mit.edu	37	9	112166806	112166806	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112166806C>A	ENST00000374541.2	-	19	1979	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	PTPN3_ENST00000262539.3_Missense_Mutation_p.E471D|PTPN3_ENST00000412145.1_Missense_Mutation_p.E494D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3			41					TGTCCCCACCCTCCGGACACA	0.532000																								0							SO:0001583	missense			ENST00000374541.2	0	1	hg19	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953877	0.34471	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.71817	-0.46;-0.45;-0.6;3.93;-0.39	5.63	5.63	0.86233	.	0.339106	0.34411	N	0.003999	T	0.54854	0.1884	L	0.38175	1.15	0.37573	D	0.919522	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.51880	-0.8649	10	0.12103	T	0.63	.	7.6876	0.28548	0.0:0.8061:0.0:0.1939	.	471;580;625	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	D	625;494;449;625;93;471	ENSP00000416654:E494D;ENSP00000395384:E449D;ENSP00000363667:E625D;ENSP00000378304:E93D;ENSP00000262539:E471D	ENSP00000262539:E471D	E	-	3	2	PTPN3	111206627	0.887000	0.30362	1.000000	0.80357	0.940000	0.58332	0.688000	0.25422	2.815000	0.96918	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4	0	0	0	7	358	0	113	1	5.890976e-01	5	91	0	113	2		0	0	0	0	0	2	1	9.798792e-01	7	353	0	112	2								-2.902849	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.220000	0.100000	0.420000	0.210000	0.245038	0.220000	0	1.500000e-01	3.300000e-01
PTPN3	5774	broad.mit.edu	37	9	112216845	112216845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112216845G>A	ENST00000374541.2	-	5	403	c.299C>T	c.(298-300)cCc>cTc	p.P100L	PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3			41					CAGGGTACAGGGGAAACCTCC	0.333000																								0							SO:0001583	missense			ENST00000374541.2	1	1	hg19	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551656	0.86127	.	.	ENSG00000070159	ENST00000394831;ENST00000374541	T	0.78595	-1.19	5.67	5.67	0.87782	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	M	0.91510	3.215	0.80722	D	1	P;D	0.76494	0.775;0.999	P;D	0.77557	0.665;0.99	D	0.92260	0.5816	10	0.72032	D	0.01	.	19.3642	0.94454	0.0:0.0:1.0:0.0	.	100;100	B7Z9V1;P26045	.;PTN3_HUMAN	L	100	ENSP00000363667:P100L	ENSP00000363667:P100L	P	-	2	0	PTPN3	111256666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	2.689000	0.91719	0.462000	0.41574	CCC		TCGA-IB-7651-01A-11D-2154-08	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4	0	0	0	17	472	0	110	1	6.498243e-01	6	56	0	110	2		0	0	0	0	0	2	1	9.999583e-01	16	462	0	110	2								-2.273849	0	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.400000	0.240000	0.600000	0.400000	0.413801	0.400000	0	3.100000e-01	5.000000e-01
PALM2	114299	broad.mit.edu	37	9	112705591	112705591	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112705591G>A	ENST00000374531.2	+	7	1100	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000448454.2_Silent_p.P376P|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Silent_p.P374P	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2			18					CCGGGAGGCCGGTCTCAGACA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000374531.2	1	1	hg19	CCDS35099.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	0	0	1	93	465	1	83	0	8.252187e-01	0	18	1	83	2		0	0	0	0	0	2	1	1	89	456	1	82	21								-2.852489	1	1	121412	11	44	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP2	11217	broad.mit.edu	37	9	112898709	112898709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112898709C>A	ENST00000259318.7	+	2	399	c.192C>A	c.(190-192)tgC>tgA	p.C64*	PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.C295*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2			33					AGGCCAACTGCTGTGATTCTG	0.562000																								0							SO:0001587	stop_gained			ENST00000259318.7	0	1	hg19	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	37	6.090318	0.97271	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	.	.	.	6.17	4.33	0.51752	.	0.149906	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.09	9.7747	0.40612	0.0:0.7342:0.0:0.2658	.	.	.	.	X	295;295;295;295;153;153;113;64	.	ENSP00000259318:C64X	C	+	3	2	PALM2-AKAP2;AKAP2	111938530	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.780000	0.26760	1.633000	0.50488	0.655000	0.94253	TGC		TCGA-IB-7651-01A-11D-2154-08	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	1	0	0	89	472	0	111	1	1	11	125	0	111	2		0	0	0	0	0	2	1	1	87	468	0	111	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP2	11217	broad.mit.edu	37	9	112899046	112899046	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899046G>A	ENST00000259318.7	+	2	736	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A408T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2			33					GAAAAAGGAGGCCAAGTTTGA	0.532000																								0							SO:0001583	missense			ENST00000259318.7	1	1	hg19	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907713	0.92107	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.999;0.997;0.998;0.998;0.996	T	0.68969	-0.5269	10	0.59425	D	0.04	-28.0429	19.8676	0.96824	0.0:0.0:1.0:0.0	.	177;266;260;266;267;408;408;226	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	408;408;408;408;266;266;226;177	ENSP00000363654:A408T;ENSP00000305861:A408T;ENSP00000451476:A408T;ENSP00000421522:A408T;ENSP00000404782:A266T;ENSP00000363649:A266T;ENSP00000419268:A226T;ENSP00000259318:A177T	ENSP00000259318:A177T	A	+	1	0	PALM2-AKAP2;AKAP2	111938867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	0	0	0	57	234	0	63	1	9.999999e-01	6	97	0	63	2		0	0	0	0	0	2	1	1	55	227	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKAP2	11217	broad.mit.edu	37	9	112899457	112899457	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899457G>A	ENST00000259318.7	+	2	1147	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E545K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E403K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2			33					CAAAGCAAAGGAGGACATTGT	0.542000																								0							SO:0001583	missense			ENST00000259318.7	0	1	hg19	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218387	0.39201	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.43	4.53	0.55603	.	0.102279	0.64402	N	0.000004	T	0.48874	0.1524	L	0.51422	1.61	0.45567	D	0.998519	B;B;B;B;B;B;B;B	0.24043	0.008;0.003;0.007;0.015;0.008;0.096;0.096;0.004	B;B;B;B;B;B;B;B	0.29524	0.007;0.009;0.004;0.012;0.005;0.103;0.062;0.004	T	0.51834	-0.8655	10	0.59425	D	0.04	-20.5912	12.6927	0.56985	0.0784:0.0:0.9216:0.0	.	314;403;397;403;404;545;545;363	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	545;545;545;545;403;403;363;314	ENSP00000363654:E545K;ENSP00000305861:E545K;ENSP00000451476:E545K;ENSP00000421522:E545K;ENSP00000404782:E403K;ENSP00000363649:E403K;ENSP00000419268:E363K;ENSP00000259318:E314K	ENSP00000259318:E314K	E	+	1	0	PALM2-AKAP2;AKAP2	111939278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.894000	0.48640	2.546000	0.85860	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	0	0	0	5	136	0	23	1	9.098263e-01	2	119	0	23	2		0	0	0	0	0	2	1	9.363283e-01	5	134	0	23	2								-7.936831	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.420000	0.160000	0.840000	0.400000	0.458709	0.420000	0	2.700000e-01	6.300000e-01
AKAP2	11217	broad.mit.edu	37	9	112899987	112899987	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899987C>T	ENST00000259318.7	+	2	1677	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	PALM2-AKAP2_ENST00000374530.3_Silent_p.T721T|AKAP2_ENST00000555236.1_Silent_p.T721T|AKAP2_ENST00000434623.2_Silent_p.T579T|PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T|AKAP2_ENST00000510514.5_Silent_p.T721T|AKAP2_ENST00000374525.1_Silent_p.T579T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2			33					TCCTGGAGACCCTATCCAATG	0.493000																								0							SO:0001819	synonymous_variant			ENST00000259318.7	0	1	hg19	CCDS48003.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	0	0	0	9	506	0	124	0	7.082818e-01	0	137	0	124	2		0	0	0	0	0	2	1	9.941412e-01	10	502	0	121	2								-2.542560	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.200000	0.090000	0.360000	0.200000	0.218462	0.200000	0	1.400000e-01	2.800000e-01
AKAP2	11217	broad.mit.edu	37	9	112900226	112900226	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900226C>A	ENST00000259318.7	+	2	1916	c.1709C>A	c.(1708-1710)gCt>gAt	p.A570D	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A801D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2			33					GAGTATCAGGCTGGCCTCCTG	0.542000																								0							SO:0001583	missense			ENST00000259318.7	1	1	hg19	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912078	0.72983	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.58940	1.63;1.65;1.63;1.65;0.87;0.32;0.3;0.94	5.95	5.95	0.96441	RII binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.70275	2.135	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0;0.998;0.998;0.997	T	0.77747	-0.2472	10	0.87932	D	0	-20.6001	19.3768	0.94514	0.0:1.0:0.0:0.0	.	570;659;653;659;660;801;801;619	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	801;801;801;801;659;659;619;570	ENSP00000363654:A801D;ENSP00000305861:A801D;ENSP00000451476:A801D;ENSP00000421522:A801D;ENSP00000404782:A659D;ENSP00000363649:A659D;ENSP00000419268:A619D;ENSP00000259318:A570D	ENSP00000259318:A570D	A	+	2	0	PALM2-AKAP2;AKAP2	111940047	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.121000	0.77160	2.810000	0.96702	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	1	0	0	33	151	0	44	1	1	7	141	0	44	2		0	0	0	0	0	2	1	1	33	150	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999982	0.990000	1	9.900000e-01	1
AKAP2	11217	broad.mit.edu	37	9	112900703	112900703	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900703C>A	ENST00000259318.7	+	2	2393	c.2186C>A	c.(2185-2187)gCt>gAt	p.A729D	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A960D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D|AKAP2_ENST00000482335.1_3'UTR	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2			33					ATCCGAGCAGCTCAGGAAAGG	0.542000																								0							SO:0001583	missense			ENST00000259318.7	1	1	hg19	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498748	0.85069	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.67865	1.5;1.5;1.5;1.5;1.5;1.5;-0.29;1.5	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.998;0.999;0.999;0.998	T	0.77094	-0.2715	10	0.33141	T	0.24	-27.8397	19.2867	0.94077	0.0:1.0:0.0:0.0	.	729;818;812;818;819;960;960;778	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	960;960;960;960;818;818;778;729	ENSP00000363654:A960D;ENSP00000305861:A960D;ENSP00000451476:A960D;ENSP00000421522:A960D;ENSP00000404782:A818D;ENSP00000363649:A818D;ENSP00000419268:A778D;ENSP00000259318:A729D	ENSP00000259318:A729D	A	+	2	0	PALM2-AKAP2;AKAP2	111940524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.793000	0.96121	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	1	0	0	38	277	0	75	1	1	14	198	0	75	2		0	0	0	0	0	2	1	1	39	271	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.998358	0.990000	1	9.900000e-01	1
C9orf152	401546	broad.mit.edu	37	9	112963456	112963456	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112963456C>T	ENST00000400613.4	-	2	1101	c.492G>A	c.(490-492)caG>caA	p.Q164Q	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152			6					GCTGAGTCATCTGATTGGTTT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000400613.4	1	1	hg19	CCDS35102.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	1	0	0	138	758	0	163	0	3.572803e-01	1	7	0	163	2		0	0	0	0	0	2	1	1	136	743	0	161	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXN	7295	broad.mit.edu	37	9	113006460	113006460	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113006460C>A	ENST00000374517.5	-	5	499	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	TXN_ENST00000374515.5_Missense_Mutation_p.A79S|TXN_ENST00000487892.1_5'UTR	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin			2					TTAATGGTGGCTTCAAGCTTT	0.289000																								0							SO:0001583	missense			ENST00000374517.5	1	1	hg19	CCDS35103.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381254	0.24944	.	.	ENSG00000136810	ENST00000374517;ENST00000374515	T;T	0.22336	3.95;1.96	5.45	3.39	0.38822	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.216640	0.36519	N	0.002548	T	0.14830	0.0358	N	0.25825	0.765	0.29885	N	0.825726	B;B	0.17667	0.023;0.023	B;B	0.27796	0.083;0.051	T	0.16129	-1.0413	10	0.16420	T	0.52	-2.3374	11.7284	0.51722	0.3316:0.6684:0.0:0.0	.	79;99	B1ALW1;P10599	.;THIO_HUMAN	S	99;79	ENSP00000363641:A99S;ENSP00000363639:A79S	ENSP00000363639:A79S	A	-	1	0	TXN	112046281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.354000	0.44098	1.266000	0.44231	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1	1	0	1	35	102	0	34	1	1	665	1645	0	34	2		0	0	0	0	0	2	1	1	35	102	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SVEP1	79987	broad.mit.edu	37	9	113166795	113166795	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113166795T>C	ENST00000401783.2	-	39	9814	c.9478A>G	c.(9478-9480)Aca>Gca	p.T3160A	SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137A|SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					CAGGTGAATGTATCTGTATCT	0.393000																								0							SO:0001583	missense			ENST00000401783.2	1	1	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916568	0.52546	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65916	-0.18;-0.18;-0.18	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.294359	0.38217	N	0.001779	T	0.63153	0.2487	M	0.73372	2.23	0.80722	D	1	P	0.44429	0.835	P	0.45071	0.468	T	0.61729	-0.7003	10	0.22706	T	0.39	.	10.7126	0.45993	0.0:0.0798:0.0:0.9202	.	3160	Q4LDE5	SVEP1_HUMAN	A	3160;3137;1086	ENSP00000384917:T3160A;ENSP00000363593:T3137A;ENSP00000297826:T1086A	ENSP00000297826:T1086A	T	-	1	0	SVEP1	112206616	0.989000	0.36119	0.992000	0.48379	0.603000	0.37013	1.670000	0.37502	2.200000	0.70718	0.482000	0.46254	ACA		TCGA-IB-7651-01A-11D-2154-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	188	771	0	222	0	9.999993e-01	0	82	0	222	2		0	0	0	0	0	2	1	1	184	755	0	220	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SVEP1	79987	broad.mit.edu	37	9	113170918	113170918	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113170918G>A	ENST00000401783.2	-	38	7298	c.6962C>T	c.(6961-6963)gCc>gTc	p.A2321V	SVEP1_ENST00000374469.1_Missense_Mutation_p.A2298V|SVEP1_ENST00000297826.5_Missense_Mutation_p.A247V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					TGGGCACTTGGCAGGCATGCA	0.453000																								0							SO:0001583	missense			ENST00000401783.2	1	1	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461962	0.04508	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.21734	1.99;1.99;1.99	5.8	4.88	0.63580	Complement control module (2);Sushi/SCR/CCP (1);	0.596150	0.19254	N	0.118854	T	0.06371	0.0164	N	0.00855	-1.145	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.22312	-1.0220	10	0.02654	T	1	.	14.0439	0.64693	0.075:0.0:0.925:0.0	.	2321	Q4LDE5	SVEP1_HUMAN	V	2321;2298;247	ENSP00000384917:A2321V;ENSP00000363593:A2298V;ENSP00000297826:A247V	ENSP00000297826:A247V	A	-	2	0	SVEP1	112210739	1.000000	0.71417	0.879000	0.34478	0.852000	0.48524	5.247000	0.65416	1.395000	0.46643	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	13	302	0	69	0	5.439252e-01	0	42	0	69	2		0	0	0	0	0	2	1	9.994688e-01	13	293	0	68	2								-14.100080	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.470000	0.260000	0.750000	0.460000	0.495129	0.470000	0	3.600000e-01	6.200000e-01
SVEP1	79987	broad.mit.edu	37	9	113173864	113173864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113173864C>T	ENST00000401783.2	-	37	6463	c.6127G>A	c.(6127-6129)Gca>Aca	p.A2043T	SVEP1_ENST00000374469.1_Missense_Mutation_p.A2020T|SVEP1_ENST00000297826.5_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					TAGTAGAATGCAATGTCTCCA	0.552000																								0							SO:0001583	missense			ENST00000401783.2	1	1	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701688	0.88924	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.65732	-0.17;-0.17	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73678	-0.3907	10	0.20519	T	0.43	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	2043	Q4LDE5	SVEP1_HUMAN	T	2043;2020	ENSP00000384917:A2043T;ENSP00000363593:A2020T	ENSP00000363593:A2020T	A	-	1	0	SVEP1	112213685	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.816000	0.69222	2.847000	0.97988	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	18	119	0	29	0	9.661028e-01	0	40	0	29	2		0	0	0	0	0	2	1	9.999882e-01	18	119	0	29	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.890000	1.000000	1.000000	0.993933	0.990000	1	9.900000e-01	1
SVEP1	79987	broad.mit.edu	37	9	113194818	113194818	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113194818G>T	ENST00000401783.2	-	31	5493	c.5157C>A	c.(5155-5157)ggC>ggA	p.G1719G	SVEP1_ENST00000374469.1_Silent_p.G1696G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					ATAGATAGTAGCCATTGTTGC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000401783.2	1	1	hg19	CCDS48004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	96	428	0	123	0	9.956577e-01	0	39	0	123	2		0	0	0	0	0	2	1	1	96	420	0	122	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SVEP1	79987	broad.mit.edu	37	9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113276288T>C	ENST00000401783.2	-	4	1399	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					TCAGGGGATGTGCTTCCAGGT	0.507000																								0							SO:0001583	missense			ENST00000401783.2	1	1	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247229	0.80024	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.88	4.73	0.59995	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.049298	0.85682	D	0.000000	T	0.42854	0.1221	M	0.79258	2.445	0.37752	D	0.925993	D;D;D;D	0.89917	0.992;1.0;0.998;0.995	P;D;D;P	0.87578	0.851;0.998;0.977;0.847	T	0.51426	-0.8707	10	0.72032	D	0.01	.	13.2119	0.59830	0.0:0.0:0.133:0.867	.	355;355;355;355	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	A	355;332;355;332	ENSP00000384917:T355A;ENSP00000363593:T332A;ENSP00000304118:T355A;ENSP00000363585:T332A	ENSP00000304118:T355A	T	-	1	0	SVEP1	112316109	1.000000	0.71417	0.940000	0.37924	0.810000	0.45777	7.673000	0.83973	1.024000	0.39682	0.528000	0.53228	ACA		TCGA-IB-7651-01A-11D-2154-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	15	63	0	16	0	9.609150e-01	0	26	0	16	2		0	0	0	0	0	2	1	9.999117e-01	15	61	0	16	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.998824	0.990000	1	9.900000e-01	1
SVEP1	79987	broad.mit.edu	37	9	113312282	113312282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312282G>A	ENST00000401783.2	-	2	970	c.634C>T	c.(634-636)Cga>Tga	p.R212*	SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					CCTGAATCTCGCAGTGACGCT	0.453000																								0							SO:0001587	stop_gained			ENST00000401783.2	0	1	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	40	8.528289	0.98850	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.5	-6.26E-4	0.14038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5394	0.84381	0.0:0.0:0.4206:0.5794	.	.	.	.	X	212;189;212;189	.	ENSP00000304118:R212X	R	-	1	2	SVEP1	112352103	1.000000	0.71417	0.419000	0.26584	0.646000	0.38490	2.723000	0.47277	-0.197000	0.10350	0.563000	0.77884	CGA		TCGA-IB-7651-01A-11D-2154-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	111	373	0	97	0	9.909460e-01	0	27	0	97	2		0	0	0	0	0	2	1	1	106	367	0	95	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SVEP1	79987	broad.mit.edu	37	9	113312321	113312321	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312321A>G	ENST00000401783.2	-	2	931	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					CCCCCATTGGAATATCCATCA	0.418000																								0							SO:0001583	missense			ENST00000401783.2	1	1	hg19	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615636	0.87359	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.71920	2.185	0.46437	D	0.999046	D;D;D	0.89917	0.99;0.971;1.0	P;P;D	0.85130	0.855;0.9;0.997	D	0.92626	0.6112	10	0.87932	D	0	.	15.897	0.79341	1.0:0.0:0.0:0.0	.	199;199;199	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	199;176;199;176	ENSP00000384917:S199P;ENSP00000363593:S176P;ENSP00000304118:S199P;ENSP00000363585:S176P	ENSP00000304118:S199P	S	-	1	0	SVEP1	112352142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.209000	0.71365	0.460000	0.39030	TCC		TCGA-IB-7651-01A-11D-2154-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	108	590	0	129	0	6.988211e-01	0	15	0	129	2		0	0	0	0	0	2	1	1	106	577	0	128	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUSK	4593	broad.mit.edu	37	9	113509922	113509922	+	Splice_Site	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113509922T>G	ENST00000374448.4	+	7	889	c.755T>G	c.(754-756)gTt>gGt	p.V252G	MUSK_ENST00000416899.2_Splice_Site_p.V252G|MUSK_ENST00000189978.5_Splice_Site_p.V252G	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase			49					CTCTGTCAGGTTTCTTCTGGG	0.403000																								0							SO:0001630	splice_region_variant			ENST00000374448.4	0	1	hg19	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565685	0.65651	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.14144	2.53	5.78	4.63	0.57726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.171752	0.51477	N	0.000083	T	0.36744	0.0978	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.989	T	0.14504	-1.0470	10	0.87932	D	0	.	11.383	0.49768	0.0:0.0:0.1518:0.8482	.	252;262	O15146;F5H6T2	MUSK_HUMAN;.	G	252;252;252;262;262;252	ENSP00000363571:V252G	ENSP00000189978:V252G	V	+	2	0	MUSK	112549743	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.359000	0.52292	0.994000	0.38892	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	32	696	0	142	0	0	0	1	0	142	2		0	0	0	0	0	2	1	1	32	690	0	142	2								-4.650252	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.500000	0.340000	0.680000	0.500000	0.512292	0.500000	0	4.200000e-01	6.000000e-01
MUSK	4593	broad.mit.edu	37	9	113538230	113538230	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113538230A>C	ENST00000374448.4	+	10	1481	c.1347A>C	c.(1345-1347)agA>agC	p.R449S	MUSK_ENST00000416899.2_Missense_Mutation_p.R449S|MUSK_ENST00000189978.5_Missense_Mutation_p.R449S|MUSK_ENST00000374438.1_Missense_Mutation_p.T41P	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase			49					CCTGTGCCAGACTGCCACATC	0.468000																								0							SO:0001583	missense			ENST00000374448.4	1	1	hg19	CCDS48005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.10|11.10	1.538820|1.538820	0.27475|0.27475	.|.	.|.	ENSG00000030304|ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899|ENST00000374441;ENST00000374438	T|D	0.74315|0.81739	-0.83|-1.53	5.74|5.74	4.61|4.61	0.57282|0.57282	Frizzled domain (1);|.	0.323968|.	0.36740|.	N|.	0.002427|.	T|T	0.78432|0.78432	0.4282|0.4282	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.75969|0.75969	-0.3130|-0.3130	10|7	0.49607|0.46703	T|T	0.09|0.11	.|.	7.9543|7.9543	0.30033|0.30033	0.8412:0.0:0.1588:0.0|0.8412:0.0:0.1588:0.0	.|.	449|.	O15146|.	MUSK_HUMAN|.	S|P	455;449;449;371;371;455|41	ENSP00000363571:R449S|ENSP00000363561:T41P	ENSP00000189978:R455S|ENSP00000363561:T41P	R|T	+|+	3|1	2|0	MUSK|MUSK	112578051|112578051	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.534000|0.534000	0.34807|0.34807	1.197000|1.197000	0.32211|0.32211	1.009000|1.009000	0.39289|0.39289	0.459000|0.459000	0.35465|0.35465	AGA|ACT		TCGA-IB-7651-01A-11D-2154-08	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1	115	576	1	161		0	0	0	1	161	2		0	0	0	0	0	2	1	1	112	565	0	159	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUSK	4593	broad.mit.edu	37	9	113547872	113547872	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113547872A>G	ENST00000374448.4	+	13	1786	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	MUSK_ENST00000416899.2_Missense_Mutation_p.N543S|MUSK_ENST00000189978.5_Missense_Mutation_p.N551S|MUSK_ENST00000374438.1_Missense_Mutation_p.N67S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase			49					CTTCATCCCAACCCCATGTAC	0.498000																								0							SO:0001583	missense			ENST00000374448.4	1	1	hg19	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659946	0.88154	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88431	-0.8;-2.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.94182	0.7433	10	0.66056	D	0.02	.	15.429	0.75077	1.0:0.0:0.0:0.0	.	551	O15146	MUSK_HUMAN	S	557;551;551;465;465;67;549;67	ENSP00000363571:N551S;ENSP00000363561:N67S	ENSP00000189978:N557S	N	+	2	0	MUSK	112587693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.890000	0.92477	2.241000	0.73720	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1	122	758	0	255		0	0	0	0	255	2		0	0	0	0	0	2	1	1	119	744	0	251	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPAR1	1902	broad.mit.edu	37	9	113704156	113704156	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704156G>A	ENST00000374431.3	-	4	721	c.338C>T	c.(337-339)aCt>aTt	p.T113I	LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I|LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1			21					CAGTCTCCGAGTATTGGGTCC	0.488000													NSCLC(115;661 2323 9836 34256)											0							SO:0001583	missense			ENST00000374431.3	1	1	hg19	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474455	0.84640	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.992	D	0.88001	0.2756	10	0.87932	D	0	.	18.45	0.90700	0.0:0.0:1.0:0.0	.	114;114;113	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	I	113;114;113;113;95;114;113	ENSP00000363553:T113I;ENSP00000445697:T114I;ENSP00000363552:T113I;ENSP00000351755:T113I;ENSP00000440201:T114I;ENSP00000401810:T113I	ENSP00000351755:T113I	T	-	2	0	LPAR1	112743977	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.869000	0.99810	2.616000	0.88540	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	1	0	1	128	677	0	188	0	9.975117e-01	0	49	0	188	2		0	0	0	0	0	2	1	1	127	663	0	187	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPAR1	1902	broad.mit.edu	37	9	113704229	113704229	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704229C>T	ENST00000374431.3	-	4	648	c.265G>A	c.(265-267)Gct>Act	p.A89T	LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T|LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1			21					GCCAGATTAGCCATTAGGTAA	0.453000													NSCLC(115;661 2323 9836 34256)											0							SO:0001583	missense			ENST00000374431.3	1	1	hg19	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953693	0.92660	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.049120	0.85682	D	0.000000	T	0.79058	0.4382	L	0.39514	1.22	0.80722	D	1	D;D;D	0.67145	0.974;0.996;0.974	D;D;D	0.68621	0.91;0.959;0.91	T	0.81017	-0.1123	10	0.87932	D	0	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	90;90;89	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	T	89;90;89;89;71;90;89	ENSP00000363553:A89T;ENSP00000445697:A90T;ENSP00000363552:A89T;ENSP00000351755:A89T;ENSP00000440201:A90T;ENSP00000401810:A89T	ENSP00000351755:A89T	A	-	1	0	LPAR1	112744050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.783000	0.85696	2.533000	0.85409	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	1	0	1	111	558	0	147	0	9.682069e-01	0	30	0	147	2		0	0	0	0	0	2	1	1	108	545	0	143	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LPAR1	1902	broad.mit.edu	37	9	113704413	113704413	+	Silent	SNP	G	G	A	rs34483952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704413G>A	ENST00000374431.3	-	4	464	c.81C>T	c.(79-81)aaC>aaT	p.N27N	LPAR1_ENST00000541779.1_Silent_p.N28N|LPAR1_ENST00000358883.4_Silent_p.N27N|LPAR1_ENST00000538760.1_Silent_p.N28N|LPAR1_ENST00000374430.2_Silent_p.N27N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1			21					CAATGGACTCGTTGTAGAAGC	0.403000													NSCLC(115;661 2323 9836 34256)											0							SO:0001819	synonymous_variant			ENST00000374431.3	1	0	hg19	CCDS6777.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	1	0	1	64	356	0	77	0	9.781581e-01	1	35	0	77	2		0	0	0	0	0	2	1	1	64	347	0	76	2								-4.387862	1	0	121412	371	58	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
OR2K2	26248	broad.mit.edu	37	9	114089992	114089992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114089992C>A	ENST00000374428.1	-	1	808	c.809G>T	c.(808-810)gGt>gTt	p.G270V	OR2K2_ENST00000302681.1_Missense_Mutation_p.G241V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2			20					CAAATGGGCACCACAGGTAGA	0.408000																								0							SO:0001583	missense			ENST00000374428.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.32	2.501482	0.44455	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.35421	1.31;1.31	4.55	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.442645	0.16571	U	0.208623	T	0.37758	0.1015	L	0.35414	1.06	0.49582	D	0.999805	D	0.55172	0.97	P	0.51615	0.675	T	0.20505	-1.0273	10	0.66056	D	0.02	.	11.2428	0.48979	0.0:0.6415:0.3585:0.0	.	270	Q8NGT1	OR2K2_HUMAN	V	241;270	ENSP00000305055:G241V;ENSP00000363550:G270V	ENSP00000305055:G241V	G	-	2	0	OR2K2	113129813	0.000000	0.05858	0.998000	0.56505	0.930000	0.56654	-0.218000	0.09240	1.237000	0.43756	0.591000	0.81541	GGT		TCGA-IB-7651-01A-11D-2154-08	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	61	311	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	58	308	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2K2	26248	broad.mit.edu	37	9	114090586	114090586	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090586C>A	ENST00000374428.1	-	1	214	c.215G>T	c.(214-216)aGc>aTc	p.S72I	OR2K2_ENST00000302681.1_Missense_Mutation_p.S43I			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2			20					AATAAGAGTGCTGTTGCCCAA	0.418000																								0							SO:0001583	missense			ENST00000374428.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	8.015	0.758465	0.15846	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00446	7.39;7.39	4.55	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.138117	0.32518	U	0.005981	T	0.00271	0.0008	N	0.25992	0.78	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.33929	-0.9849	10	0.13108	T	0.6	.	12.0495	0.53500	0.1737:0.8263:0.0:0.0	.	72	Q8NGT1	OR2K2_HUMAN	I	43;72	ENSP00000305055:S43I;ENSP00000363550:S72I	ENSP00000305055:S43I	S	-	2	0	OR2K2	113130407	0.000000	0.05858	0.885000	0.34714	0.815000	0.46073	-0.163000	0.09997	1.253000	0.44018	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	84	435	2	93		0	0	0	2	93	2		0	0	0	0	0	2	1	1	83	431	2	92	25								-20.000000	1	0	121412	1	34	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR2K2	26248	broad.mit.edu	37	9	114090685	114090685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090685C>T	ENST00000374428.1	-	1	115	c.116G>A	c.(115-117)aGc>aAc	p.S39N	OR2K2_ENST00000302681.1_Missense_Mutation_p.S10N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2			20					GAAAAAAATGCTCCAAATGGT	0.388000																								0							SO:0001583	missense			ENST00000374428.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.69	3.194496	0.58017	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00575	6.46;6.46	4.47	0.0536	0.14307	.	0.334685	0.21273	U	0.077285	T	0.00496	0.0016	L	0.39326	1.205	0.09310	N	1	P	0.40000	0.698	B	0.36134	0.218	T	0.53114	-0.8484	10	0.23302	T	0.38	.	6.853	0.24024	0.0:0.5422:0.2849:0.1729	.	39	Q8NGT1	OR2K2_HUMAN	N	10;39	ENSP00000305055:S10N;ENSP00000363550:S39N	ENSP00000305055:S10N	S	-	2	0	OR2K2	113130506	0.009000	0.17119	0.027000	0.17364	0.973000	0.67179	-0.574000	0.05868	0.200000	0.20447	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	65	222	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	62	215	0	62	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0368	23392	broad.mit.edu	37	9	114134091	114134091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114134091C>T	ENST00000338205.5	-	42	4766	c.4547G>A	c.(4546-4548)cGa>cAa	p.R1516Q	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1694Q|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368			65					CAGGTATAATCGAATGCCACC	0.383000																								0							SO:0001583	missense			ENST00000338205.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	34	5.312779	0.95655	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.50277	0.75	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.78049	2.395	0.80722	D	1	D	0.56521	0.976	P	0.52514	0.701	T	0.67348	-0.5693	10	0.56958	D	0.05	.	19.9064	0.97008	0.0:1.0:0.0:0.0	.	991	B3KXF2	.	Q	1516;1694;991	ENSP00000259335:R1694Q	ENSP00000259335:R1694Q	R	-	2	0	KIAA0368	113173912	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.487000	0.81328	2.693000	0.91896	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	1	0	1	66	309	0	83	1	1	72	203	0	83	2		0	0	0	0	0	2	1	1	64	307	0	83	2								-3.078341	1	0	120770	18	44	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0368	23392	broad.mit.edu	37	9	114140876	114140876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114140876G>A	ENST00000338205.5	-	35	4157	c.3938C>T	c.(3937-3939)gCg>gTg	p.A1313V	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.A1491V			Q5VYK3	ECM29_HUMAN	KIAA0368			65					TTGCTCTGTCGCCCGGAGGCT	0.468000																								0							SO:0001583	missense			ENST00000338205.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.8	4.203697	0.79127	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.55588	0.51	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.79805	2.47	0.80722	D	1	P	0.39352	0.669	B	0.38296	0.27	T	0.64343	-0.6430	10	0.44086	T	0.13	.	19.3995	0.94621	0.0:0.0:1.0:0.0	.	788	B3KXF2	.	V	1313;1491;788	ENSP00000259335:A1491V	ENSP00000259335:A1491V	A	-	2	0	KIAA0368	113180697	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.420000	0.97426	2.645000	0.89757	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	1	0	1	80	319	0	75	1	1	35	146	0	75	2		0	0	0	0	0	2	1	1	79	312	0	73	2								-3.072547	1	1	120816	3	37	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA0368	23392	broad.mit.edu	37	9	114172458	114172458	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114172458T>A	ENST00000338205.5	-	22	2632	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	KIAA0368_ENST00000374378.3_5'Flank|KIAA0368_ENST00000259335.4_Missense_Mutation_p.I983F|RNA5SP294_ENST00000411306.1_RNA			Q5VYK3	ECM29_HUMAN	KIAA0368			65					CAGGCAGCAATTGCCAGGAGG	0.458000																								0							SO:0001583	missense			ENST00000338205.5	0	0	hg19		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	11.33	1.607637	0.28623	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66099	-0.19	5.76	2.23	0.28157	.	0.209766	0.43416	D	0.000574	T	0.46483	0.1395	L	0.44542	1.39	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.20306	-1.0279	10	0.13108	T	0.6	.	7.6146	0.28150	0.0:0.3511:0.0:0.6489	.	280	B3KXF2	.	F	805;983;280	ENSP00000259335:I983F	ENSP00000259335:I983F	I	-	1	0	KIAA0368	113212279	0.114000	0.22134	0.997000	0.53966	0.997000	0.91878	0.310000	0.19356	0.458000	0.26988	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	1	0	1	14	99	0	12	1	9.999962e-01	39	142	0	12	2		0	0	0	0	0	2	1	9.997955e-01	14	97	0	12	2								-19.998470	1	1	120824	2	26	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.790000	1.000000	1.000000	0.984715	0.990000	1	9.900000e-01	1
KIAA0368	23392	broad.mit.edu	37	9	114178627	114178627	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114178627A>G	ENST00000338205.5	-	17	1908	c.1689T>C	c.(1687-1689)tcT>tcC	p.S563S	KIAA0368_ENST00000259335.4_Silent_p.S741S			Q5VYK3	ECM29_HUMAN	KIAA0368			65					TCATTCGATGAGAAGCCTAAG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000338205.5	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	1	0	1	29	135	0	33	1	9.999996e-01	33	86	0	33	2		0	0	0	0	0	2	1	1	29	135	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999944	0.990000	1	9.900000e-01	1
C9orf84	158401	broad.mit.edu	37	9	114454094	114454094	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454094G>T	ENST00000318737.4	-	25	4099	c.3971C>A	c.(3970-3972)tCt>tAt	p.S1324Y	C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394779.3_Missense_Mutation_p.S1285Y	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84			35					ACCTTTCTGAGAGTACAATTT	0.373000																								0							SO:0001583	missense			ENST00000318737.4	1	1	hg19	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778618	0.31502	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.10573	2.86;2.92;2.88;2.88	5.29	4.39	0.52855	.	0.267845	0.27080	N	0.021025	T	0.15912	0.0383	L	0.32530	0.975	0.09310	N	0.999997	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.57720	0.826;0.826;0.826	T	0.03739	-1.1008	10	0.87932	D	0	-5.3437	7.8994	0.29725	0.1807:0.0:0.8193:0.0	.	1250;1324;1285	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Y	1285;1250;938;1324;1324	ENSP00000378259:S1285Y;ENSP00000378257:S1250Y;ENSP00000363405:S1324Y;ENSP00000322108:S1324Y	ENSP00000322108:S1324Y	S	-	2	0	C9orf84	113493915	1.000000	0.71417	0.434000	0.26772	0.393000	0.30537	1.863000	0.39459	1.457000	0.47850	0.467000	0.42956	TCT		TCGA-IB-7651-01A-11D-2154-08	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	1	0	0	27	327	0	70	1	1.012148e-01	3	4	0	70	2		0	0	0	0	0	2	1	1	27	322	0	70	2								-3.075757	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.860000	0.590000	1.000000	1.000000	0.860203	0.860000	1	7.100000e-01	1
C9orf84	158401	broad.mit.edu	37	9	114454384	114454384	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454384C>A	ENST00000318737.4	-	25	3809	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000394779.3_Missense_Mutation_p.E1188D	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84			35					AGACATCTGACTCTGAATCAC	0.373000																								0							SO:0001583	missense			ENST00000318737.4	0	1	hg19	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285060	0.40394	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.06142	3.34;3.38;3.35;3.35	5.4	-2.56	0.06268	.	0.539342	0.16780	N	0.199831	T	0.03783	0.0107	L	0.32530	0.975	0.23227	N	0.998088	B;B;B	0.13594	0.008;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.34453	-0.9828	10	0.49607	T	0.09	-0.0425	1.4932	0.02461	0.1172:0.2962:0.2293:0.3574	.	1153;1227;1188	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	D	1188;1153;841;1227;1227	ENSP00000378259:E1188D;ENSP00000378257:E1153D;ENSP00000363405:E1227D;ENSP00000322108:E1227D	ENSP00000322108:E1227D	E	-	3	2	C9orf84	113494205	0.193000	0.23313	0.326000	0.25389	0.930000	0.56654	-0.665000	0.05286	-0.743000	0.04784	0.467000	0.42956	GAG		TCGA-IB-7651-01A-11D-2154-08	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	0	0	0	8	355	0	76	0	1.970039e-03	0	3	0	76	2		0	0	0	0	0	2	1	9.884353e-01	6	348	0	76	2								-8.075925	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.260000	0.120000	0.460000	0.250000	0.277153	0.260000	0	1.800000e-01	3.600000e-01
C9orf84	158401	broad.mit.edu	37	9	114500748	114500748	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114500748A>C	ENST00000318737.4	-	10	1165	c.1037T>G	c.(1036-1038)aTa>aGa	p.I346R	C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R|C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000394779.3_Missense_Mutation_p.I307R	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84			35					AACAGAAAATATCTTTTTCAA	0.333000																								0							SO:0001583	missense			ENST00000318737.4	1	1	hg19	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848526	0.32699	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.88	1.21	0.21127	.	0.960710	0.08668	N	0.911433	T	0.46698	0.1406	L	0.32530	0.975	0.09310	N	0.999998	P;P;D;D	0.57571	0.688;0.688;0.958;0.98	B;B;P;P	0.56700	0.246;0.246;0.748;0.804	T	0.32322	-0.9911	10	0.87932	D	0	0.4228	3.1529	0.06494	0.6338:0.0:0.191:0.1751	.	307;410;346;307	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	R	307;307;346;346;410	ENSP00000378259:I307R;ENSP00000378257:I307R;ENSP00000363405:I346R;ENSP00000322108:I346R;ENSP00000363401:I410R	ENSP00000322108:I346R	I	-	2	0	C9orf84	113540569	0.005000	0.15991	0.000000	0.03702	0.431000	0.31685	0.988000	0.29616	0.112000	0.17975	0.377000	0.23210	ATA		TCGA-IB-7651-01A-11D-2154-08	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	1	0	1	67	303	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	67	298	0	54	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UGCG	7357	broad.mit.edu	37	9	114693625	114693625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114693625C>T	ENST00000374279.3	+	7	1262	c.812C>T	c.(811-813)tCc>tTc	p.S271F	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase			12				Miglustat(DB00419)	CAGTTTCAATCCAGAATGATC	0.338000																								0							SO:0001583	missense			ENST00000374279.3	1	1	hg19	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879392	0.91740	.	.	ENSG00000148154	ENST00000374279	T	0.59638	0.25	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.48642	1.525	0.80722	D	1	D	0.56035	0.974	P	0.59889	0.865	T	0.68383	-0.5423	10	0.56958	D	0.05	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	271	Q16739	CEGT_HUMAN	F	271	ENSP00000363397:S271F	ENSP00000363397:S271F	S	+	2	0	UGCG	113733446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.800000	0.62524	2.831000	0.97527	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	0	0	1	27	179	0	34	1	9.999989e-01	32	121	0	34	2		0	0	0	0	0	2	1	1	27	175	0	34	2								-3.321369	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.998144	0.990000	1	9.900000e-01	1
SUSD1	64420	broad.mit.edu	37	9	114825286	114825286	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114825286A>C	ENST00000374270.3	-	13	1953	c.1781T>G	c.(1780-1782)tTt>tGt	p.F594C	SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1		SUSD1/ROD1(2)	28					GTGCACCGTAAAAAATTCTAC	0.483000																								0							SO:0001583	missense			ENST00000374270.3	1	1	hg19	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.38|12.38	1.921354|1.921354	0.33908|0.33908	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|T	0.29917|0.52295	1.55;1.55;1.55|0.67	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.349077|0.349077	0.20881|0.20881	N|N	0.083985|0.083985	T|T	0.55784|0.55784	0.1942|0.1942	L|L	0.59436|0.59436	1.845|1.845	0.29950|0.29950	N|N	0.820311|0.820311	D;D;D|.	0.67145|.	0.996;0.969;0.988|.	P;P;P|.	0.56216|.	0.794;0.719;0.533|.	T|T	0.60767|0.60767	-0.7198|-0.7198	10|8	0.59425|0.72032	D|D	0.04|0.01	-5.4508|-5.4508	12.8644|12.8644	0.57932|0.57932	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	594;594;594|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|L	594|577	ENSP00000363388:F594C;ENSP00000363381:F594C;ENSP00000363382:F594C|ENSP00000347558:F577L	ENSP00000363381:F594C|ENSP00000347558:F577L	F|F	-|-	2|3	0|2	SUSD1|SUSD1	113865107|113865107	0.454000|0.454000	0.25728|0.25728	0.226000|0.226000	0.23910|0.23910	0.005000|0.005000	0.04900|0.04900	2.006000|2.006000	0.40874|0.40874	2.031000|2.031000	0.59945|0.59945	0.533000|0.533000	0.62120|0.62120	TTT|TTT		TCGA-IB-7651-01A-11D-2154-08	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	1	0	1	110	379	0	96	1	9.993656e-01	3	37	0	96	2		0	0	0	0	0	2	1	1	106	368	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SUSD1	64420	broad.mit.edu	37	9	114874056	114874056	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114874056G>A	ENST00000374270.3	-	8	1221	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I|SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1		SUSD1/ROD1(2)	28					GCTGTCTGTGGTCAAGTTGAC	0.532000																								0							SO:0001583	missense			ENST00000374270.3	1	1	hg19	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.624689|3.624689	0.66901|0.66901	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.74632	.|-0.79;-0.81;-0.86	5.61|5.61	4.69|4.69	0.59074|0.59074	.|.	.|0.132704	.|0.34652	.|N	.|0.003797	D|D	0.85256|0.85256	0.5655|0.5655	M|M	0.82823|0.82823	2.61|2.61	0.32752|0.32752	N|N	0.506256|0.506256	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.992;0.999	D|D	0.87466|0.87466	0.2411|0.2411	5|10	.|0.30854	.|T	.|0.27	-7.586|-7.586	12.0414|12.0414	0.53454|0.53454	0.0:0.0:0.8275:0.1725|0.0:0.0:0.8275:0.1725	.|.	.|350;350;350	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|I	164|350	.|ENSP00000363388:T350I;ENSP00000363381:T350I;ENSP00000363382:T350I	.|ENSP00000363381:T350I	P|T	-|-	1|2	0|0	SUSD1|SUSD1	113913877|113913877	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.921000|0.921000	0.55340|0.55340	3.367000|3.367000	0.52350|0.52350	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	CCA|ACC		TCGA-IB-7651-01A-11D-2154-08	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	1	0	1	63	299	0	67	1	9.980451e-01	4	43	0	67	2		0	0	0	0	0	2	1	1	63	288	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1958	158405	broad.mit.edu	37	9	115336390	115336390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115336390G>T	ENST00000337530.6	+	2	326	c.30G>T	c.(28-30)gaG>gaT	p.E10D	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958			25					CCTCATCTGAGAATCTGTCCA	0.438000																								0							SO:0001583	missense			ENST00000337530.6	1	1	hg19	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825386	0.32237	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	5.92	2.76	0.32466	.	0.000000	0.64402	D	0.000001	T	0.17109	0.0411	N	0.03608	-0.345	0.35121	D	0.767021	P;B	0.38020	0.615;0.384	B;B	0.36186	0.219;0.112	T	0.15093	-1.0449	9	0.45353	T	0.12	-2.8457	5.2392	0.15462	0.5361:0.0:0.4639:0.0	.	10;10	B7ZKW6;Q8N8K9	.;K1958_HUMAN	D	10	.	ENSP00000336940:E10D	E	+	3	2	KIAA1958	114376211	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.605000	0.46283	0.855000	0.35359	-0.266000	0.10368	GAG		TCGA-IB-7651-01A-11D-2154-08	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	1	0	1	67	297	0	90	0	3.493099e-02	1	1	0	90	2		0	0	0	0	0	2	1	1	67	293	0	89	2								-3.339826	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1958	158405	broad.mit.edu	37	9	115421560	115421560	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421560G>A	ENST00000337530.6	+	4	1658	c.1362G>A	c.(1360-1362)ttG>ttA	p.L454L	KIAA1958_ENST00000536272.1_Silent_p.L482L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958			25					CAGTGAAGTTGAACGAGCTGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000337530.6	1	1	hg19	CCDS35108.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	1	0	0	72	365	0	80	1	2.627635e-01	2	4	0	80	2		0	0	0	0	0	2	1	1	72	361	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1958	158405	broad.mit.edu	37	9	115421772	115421772	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421772C>T	ENST00000337530.6	+	4	1870	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958			25					ATGTCGGGCGCGCGTTCTCGC	0.577000																								0							SO:0001583	missense			ENST00000337530.6	1	1	hg19	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601652	0.46423	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.20536	0.0494	N	0.08118	0	0.26310	N	0.977833	P;P	0.44006	0.824;0.53	B;B	0.33121	0.158;0.048	T	0.13176	-1.0519	8	0.27785	T	0.31	.	19.3641	0.94454	0.0:1.0:0.0:0.0	.	553;525	B7ZKW6;Q8N8K9	.;K1958_HUMAN	V	525;553	.	ENSP00000336940:A525V	A	+	2	0	KIAA1958	114461593	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	2.033000	0.41136	2.676000	0.91093	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	1	0	1	18	113	0	24	0	2.648898e-01	1	6	0	24	2		0	0	0	0	0	2	1	9.999858e-01	18	110	0	24	2								-20.000000	1	1	121410	6	32	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.920000	1.000000	1.000000	0.995568	0.990000	1	9.900000e-01	1
SLC46A2	57864	broad.mit.edu	37	9	115652542	115652542	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115652542C>T	ENST00000374228.4	-	1	651	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2			18					CGTTCAGCGCCGCCGCCCCGT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000374228.4	1	1	hg19	CCDS6786.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	1	0	1	45	238	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	1	43	235	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
FKBP15	23307	broad.mit.edu	37	9	115928378	115928378	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115928378C>T	ENST00000238256.3	-	28	3757	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa			26					CAGTCAATGTCATCGTCATCA	0.527000																								0							SO:0001583	missense			ENST00000238256.3	1	1	hg19	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193798	0.94960	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.36157	1.27;1.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.56352	0.1979	L	0.51422	1.61	0.41849	D	0.990163	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.57100	-0.7869	9	0.87932	D	0	-9.6325	17.3254	0.87245	0.0:1.0:0.0:0.0	.	795;1214	B4DVS2;Q5T1M5	.;FKB15_HUMAN	N	1239;1214	ENSP00000416158:D1239N;ENSP00000238256:D1214N	ENSP00000238256:D1214N	D	-	1	0	FKBP15	114968199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.455000	0.60075	2.687000	0.91594	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	18	100	0	23	1	9.999961e-01	7	124	0	23	2		0	0	0	0	0	2	1	9.999874e-01	18	98	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.997843	0.990000	1	9.900000e-01	1
FKBP15	23307	broad.mit.edu	37	9	115962165	115962165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115962165C>T	ENST00000238256.3	-	7	694	c.577G>A	c.(577-579)Gct>Act	p.A193T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	p.A218T(1)|p.A193T(1)		26					ACTTCTACAGCAGGGCCGTCT	0.502000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000238256.3	1	1	hg19	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615398	0.87359	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	D;D;D	0.85484	-1.99;-1.99;-1.99	5.95	3.72	0.42706	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	.	.	.	.	D	0.83926	0.5360	L	0.37507	1.11	0.32142	N	0.585427	P;D;P	0.57571	0.57;0.98;0.783	B;P;P	0.53689	0.444;0.732;0.661	D	0.84920	0.0853	9	0.66056	D	0.02	-8.9134	9.7822	0.40656	0.1546:0.7608:0.0:0.0846	.	193;193;193	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	T	218;193;218	ENSP00000416158:A218T;ENSP00000238256:A193T;ENSP00000415733:A218T	ENSP00000238256:A193T	A	-	1	0	FKBP15	115001986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	1.444000	0.47605	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	16	87	0	27	1	9.962413e-01	12	42	0	27	2		0	0	0	0	0	2	1	9.999509e-01	16	85	0	27	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.970000	1.000000	1.000000	0.997089	0.990000	1	9.900000e-01	1
FKBP15	23307	broad.mit.edu	37	9	115965247	115965247	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115965247C>T	ENST00000238256.3	-	5	510	c.393G>A	c.(391-393)gaG>gaA	p.E131E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa			26					TTACCATTAGCTCAAAGTTCA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000238256.3	1	1	hg19	CCDS48007.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	16	84	0	18	1	9.971717e-01	3	52	0	18	2		0	0	0	0	0	2	1	9.999317e-01	16	78	0	18	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.980000	1.000000	1.000000	0.997556	0.990000	1	9.900000e-01	1
WDR31	114987	broad.mit.edu	37	9	116094247	116094247	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116094247C>A	ENST00000374193.4	-	3	302	c.56G>T	c.(55-57)aGg>aTg	p.R19M	WDR31_ENST00000461942.1_Intron|WDR31_ENST00000341761.4_Missense_Mutation_p.R19M|WDR31_ENST00000374195.3_De_novo_Start_OutOfFrame	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31			6					GACACAAAACCTAAACGAAAC	0.463000																								0							SO:0001583	missense			ENST00000374193.4	1	0	hg19	CCDS35110.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219539	0.22373	.	.	ENSG00000148225	ENST00000374193;ENST00000341761	T;T	0.66815	-0.2;-0.23	5.87	-0.0403	0.13872	.	1.347990	0.04219	N	0.333086	T	0.56804	0.2010	L	0.44542	1.39	0.09310	N	0.999998	B;B	0.28584	0.138;0.216	B;B	0.34385	0.088;0.181	T	0.47086	-0.9144	10	0.42905	T	0.14	5.335	0.6637	0.00847	0.1702:0.3512:0.1655:0.3131	.	19;19	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	M	19	ENSP00000363308:R19M;ENSP00000345027:R19M	ENSP00000345027:R19M	R	-	2	0	WDR31	115134068	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	0.073000	0.14640	0.379000	0.24794	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	0	0	1	37	254	0	57	0	4.694692e-02	1	2	0	57	2		0	0	0	0	0	2	1	1	37	254	0	57	2								-3.076046	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999139	0.990000	1	9.900000e-01	1
C9orf43	257169	broad.mit.edu	37	9	116187992	116187992	+	Missense_Mutation	SNP	G	G	A	rs145109883		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116187992G>A	ENST00000288462.4	+	11	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43			15					AGTTACCACCGTTCATGACCG	0.478000																								0							SO:0001583	missense			ENST00000288462.4	1	1	hg19	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544781	0.13312	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.47177	0.85;0.85	3.98	-3.64	0.04515	.	2.072450	0.02239	N	0.065609	T	0.28499	0.0705	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.08186	-1.0734	10	0.15499	T	0.54	2.022	5.4062	0.16323	0.5812:0.0:0.2679:0.1509	.	338	Q8TAL5	CI043_HUMAN	I	338	ENSP00000363280:V338I;ENSP00000288462:V338I	ENSP00000288462:V338I	V	+	1	0	C9orf43	115227813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.823000	0.04301	-0.290000	0.09829	GTT		TCGA-IB-7651-01A-11D-2154-08	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	1	0	1	53	265	0	74	1	1.359159e-01	3	1	0	74	2		0	0	0	0	0	2	1	1	51	262	0	74	2								-20.000000	1	1	121412	6	38	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RGS3	5998	broad.mit.edu	37	9	116353676	116353676	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116353676C>T	ENST00000374140.2	+	22	3288	c.3079C>T	c.(3079-3081)Cta>Tta	p.L1027L	RGS3_ENST00000350696.5_Splice_Site_p.L1027L|RGS3_ENST00000394646.3_Splice_Site_p.L420L|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462143.1_Splice_Site_p.L348L|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000343817.5_Splice_Site_p.L746L|RGS3_ENST00000374134.3_Splice_Site_p.L348L|RGS3_ENST00000342620.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3			48					GAGCAAAAACCTGTACGTTGG	0.592000																								0							SO:0001630	splice_region_variant			ENST00000374140.2	1	0	hg19	CCDS43869.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	1	0	1	45	195	0	56	1	9.999987e-01	19	74	0	56	2		0	0	0	0	0	2	1	1	45	192	0	56	2								-3.196048	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
AMBP	259	broad.mit.edu	37	9	116823712	116823712	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116823712C>T	ENST00000265132.3	-	8	1107	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor			11				Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCACAGTTCGGCAGGTCTG	0.547000																								0							SO:0001583	missense			ENST00000265132.3	1	1	hg19	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395005	0.83011	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.58506	0.33	5.4	5.4	0.78164	Proteinase inhibitor I2, Kunitz metazoa (4);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	16.668	0.85258	0.0:1.0:0.0:0.0	.	223;282	B7Z8R6;P02760	.;AMBP_HUMAN	Q	282;223	ENSP00000265132:R282Q	ENSP00000265132:R282Q	R	-	2	0	AMBP	115863533	1.000000	0.71417	0.932000	0.37286	0.267000	0.26476	6.837000	0.75354	2.500000	0.84329	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	1	0	1	85	457	0	99	1	1	16	198	0	99	2		0	0	0	0	0	2	1	1	85	448	0	95	2								-2.969023	1	1	121412	5	41	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMBP	259	broad.mit.edu	37	9	116840415	116840415	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116840415C>T	ENST00000265132.3	-	1	337	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	p.P25P(2)		11				Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTGTCGGGCGGCGTTGGCA	0.617000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000265132.3	1	1	hg19	CCDS6800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	1	0	1	113	494	0	89	1	1	11	148	0	89	2		0	0	0	0	0	2	1	1	108	487	0	88	2								-3.419351	1	1	121412	52	49	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF12	113220	broad.mit.edu	37	9	116856514	116856514	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116856514C>T	ENST00000374118.3	-	10	1083	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12			17					ACAGGTTCCGCTGGGCCCAGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000374118.3	1	1	hg19	CCDS6801.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	1	0	1	75	388	0	74	1	9.999994e-01	35	73	0	74	2		0	0	0	0	0	2	1	1	74	380	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL27A1	85301	broad.mit.edu	37	9	117002747	117002747	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117002747C>T	ENST00000356083.3	+	21	3206	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1			80					GCCGGGACCCCGTGGGCAGCT	0.667000																								0							SO:0001583	missense			ENST00000356083.3	1	1	hg19	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906833	0.52333	0.0	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93547	-3.24	5.91	0.00205	0.14048	.	.	.	.	.	D	0.91855	0.7422	M	0.88704	2.975	0.40930	D	0.984383	B	0.11235	0.004	B	0.11329	0.006	D	0.85687	0.1304	9	0.56958	D	0.05	.	3.6787	0.08302	0.4976:0.2923:0.126:0.0841	.	939	Q8IZC6	CORA1_HUMAN	C	939	ENSP00000348385:R939C	ENSP00000348385:R939C	R	+	1	0	COL27A1	116042568	0.873000	0.30073	0.948000	0.38648	0.996000	0.88848	1.396000	0.34531	0.070000	0.16634	-0.140000	0.14226	CGT		TCGA-IB-7651-01A-11D-2154-08	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	1	0	1	172	611	0	98	0	6.215690e-01	0	9	0	98	2		0	0	0	0	0	2	1	1	170	607	0	97	2								-3.686410	1	1	121412	14	46	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL27A1	85301	broad.mit.edu	37	9	117052362	117052362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117052362G>A	ENST00000356083.3	+	46	4622	c.4231G>A	c.(4231-4233)Gca>Aca	p.A1411T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1			80					GCAAGGCAAGGCAGGGGCCCC	0.647000																								0							SO:0001583	missense			ENST00000356083.3	1	1	hg19	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698490	0.48307	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93488	-3.23	4.89	3.96	0.45880	.	.	.	.	.	D	0.82921	0.5142	N	0.08118	0	0.22571	N	0.998973	P	0.45044	0.849	B	0.39617	0.305	T	0.73206	-0.4056	9	0.13853	T	0.58	.	9.7579	0.40515	0.0:0.279:0.721:0.0	.	1411	Q8IZC6	CORA1_HUMAN	T	1411	ENSP00000348385:A1411T	ENSP00000348385:A1411T	A	+	1	0	COL27A1	116092183	0.971000	0.33674	0.993000	0.49108	0.922000	0.55478	0.880000	0.28159	2.249000	0.74217	0.491000	0.48974	GCA		TCGA-IB-7651-01A-11D-2154-08	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	1	0	0	80	303	0	57	0	4.507623e-01	0	7	0	57	2		0	0	0	0	0	2	1	1	78	293	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL27A1	85301	broad.mit.edu	37	9	117069983	117069983	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117069983C>A	ENST00000356083.3	+	59	5533	c.5142C>A	c.(5140-5142)tcC>tcA	p.S1714S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1			80					TTGGCTGCTCCTCTGACACCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000356083.3	1	1	hg19	CCDS6802.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	1	0	1	84	388	0	120	0	7.406069e-01	1	13	0	120	2		0	0	0	0	0	2	1	1	82	375	0	118	2								-2.977319	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AKNA	80709	broad.mit.edu	37	9	117120303	117120303	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117120303G>A	ENST00000307564.4	-	12	2798	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S	AKNA_ENST00000223791.3_Silent_p.S339S|AKNA_ENST00000374088.3_Silent_p.S879S|AKNA_ENST00000374075.5_Silent_p.S798S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor			51					GGGATGCTGCGGACTTGGTGC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000307564.4	1	1	hg19	CCDS6805.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	1	0	1	59	332	0	68	0	9.999712e-01	0	88	0	68	2		0	0	0	0	0	2	1	1	57	324	0	68	2								-3.078831	1	1	121410	3	32	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DFNB31	25861	broad.mit.edu	37	9	117185786	117185786	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117185786C>A	ENST00000362057.3	-	7	1602	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D|DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31			38					TGCCTCTCACCTCAGAGAGGA	0.627000																								0							SO:0001583	missense			ENST00000362057.3	1	1	hg19	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702839	0.48307	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.13089	3.48;3.44;2.62	5.3	2.45	0.29901	.	0.206212	0.42548	N	0.000694	T	0.11922	0.0290	L	0.46947	1.48	0.52501	D	0.999955	B;B;B	0.29590	0.063;0.25;0.174	B;B;B	0.31390	0.129;0.129;0.126	T	0.09164	-1.0687	10	0.49607	T	0.09	-27.4925	6.1806	0.20470	0.1321:0.6567:0.0:0.2112	.	478;478;127	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	D	95;127;478	ENSP00000265134:E95D;ENSP00000363172:E127D;ENSP00000354623:E478D	ENSP00000265134:E95D	E	-	3	2	DFNB31	116225607	0.999000	0.42202	0.993000	0.49108	0.984000	0.73092	0.725000	0.25970	0.240000	0.21263	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	1	0	1	44	369	0	89	0	2.549778e-01	1	8	0	89	2		0	0	0	0	0	2	1	1	43	362	0	87	2								-3.017764	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.900000	1.000000	1.000000	0.993816	0.990000	1	9.900000e-01	1
FOXD4	2298	broad.mit.edu	37	9	117637	117637	+	Silent	SNP	G	G	A	rs138098441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117637G>A	ENST00000382500.2	-	1	780	c.483C>T	c.(481-483)tgC>tgT	p.C161C		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4			14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)		TCTTGACGAAGCAGTCGTTCA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000382500.2	1	0	hg19	CCDS34975.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	1	0	0	412	1626	0	407	0	0	1	0	0	407	2		0	0	0	0	0	2	1	1	317	1315	0	413	2								-2.101934	0	1	120958	805	64	1						0.170000	2.060000									0	0
TNFSF8	944	broad.mit.edu	37	9	117666368	117666368	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666368G>A	ENST00000223795.2	-	4	661	c.548C>T	c.(547-549)aCg>aTg	p.T183M	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8			12					TACGTGTTTCGTTTGCATTCC	0.423000																								0							SO:0001583	missense			ENST00000223795.2	1	1	hg19	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039876	0.19669	.	.	ENSG00000106952	ENST00000223795	T	0.45276	0.9	5.78	0.459	0.16678	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.606253	0.16417	N	0.215354	T	0.23054	0.0557	L	0.27053	0.805	0.09310	N	1	P	0.44776	0.843	B	0.35813	0.211	T	0.11743	-1.0575	10	0.66056	D	0.02	-10.4583	6.132	0.20211	0.0703:0.3736:0.4276:0.1285	.	183	P32971	TNFL8_HUMAN	M	183	ENSP00000223795:T183M	ENSP00000223795:T183M	T	-	2	0	TNFSF8	116706189	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.824000	0.27379	-0.172000	0.10779	-0.119000	0.15052	ACG		TCGA-IB-7651-01A-11D-2154-08	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1	1	0	1	84	509	0	110	0	9.363618e-01	0	30	0	110	2		0	0	0	0	0	2	1	1	80	498	0	109	2								-20.000000	1	1	121412	1	34	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFSF8	944	broad.mit.edu	37	9	117666569	117666569	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666569T>C	ENST00000223795.2	-	4	460	c.347A>G	c.(346-348)aAc>aGc	p.N116S	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8			12					GCCATCTTTGTTCCAAGACAA	0.383000																								0							SO:0001583	missense			ENST00000223795.2	1	1	hg19	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632859	0.67015	.	.	ENSG00000106952	ENST00000223795	D	0.94232	-3.38	5.63	5.63	0.86233	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.078972	0.53938	D	0.000050	D	0.92763	0.7699	L	0.29908	0.895	0.33043	D	0.531677	D	0.59767	0.986	P	0.59595	0.86	D	0.93475	0.6822	10	0.31617	T	0.26	-27.2485	13.3596	0.60648	0.0:0.0:0.0:1.0	.	116	P32971	TNFL8_HUMAN	S	116	ENSP00000223795:N116S	ENSP00000223795:N116S	N	-	2	0	TNFSF8	116706390	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.524000	0.45589	2.148000	0.66965	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1	1	0	1	119	475	0	126	0	9.994341e-01	0	46	0	126	2		0	0	0	0	0	2	1	1	115	468	0	123	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFSF8	944	broad.mit.edu	37	9	117692528	117692528	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117692528G>T	ENST00000223795.2	-	1	169	c.56C>A	c.(55-57)gCc>gAc	p.A19D		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8			12					CACATGCATGGCTGTGTCTCC	0.567000																								0							SO:0001583	missense			ENST00000223795.2	1	1	hg19	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309749	0.23821	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	4.57	0.56435	.	0.205833	0.33875	N	0.004480	T	0.50599	0.1625	L	0.32530	0.975	0.46131	D	0.998883	P	0.50443	0.935	P	0.50490	0.642	T	0.54549	-0.8277	9	0.87932	D	0	-12.895	11.6842	0.51476	0.0822:0.0:0.9178:0.0	.	19	P32971	TNFL8_HUMAN	D	19	.	ENSP00000223795:A19D	A	-	2	0	TNFSF8	116732349	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.109000	0.50345	1.306000	0.44926	0.544000	0.68410	GCC		TCGA-IB-7651-01A-11D-2154-08	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1	1	0	1	104	543	0	108	0	9.011370e-01	0	23	0	108	2		0	0	0	0	0	2	1	1	102	529	0	103	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNC	3371	broad.mit.edu	37	9	117826322	117826322	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826322G>A	ENST00000350763.4	-	12	3924	c.3513C>T	c.(3511-3513)gtC>gtT	p.V1171V	TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Silent_p.V1171V|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					CGGCCACCACGACCTCTCCCA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000350763.4	1	1	hg19	CCDS6811.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	0	0	28	803	0	200	0	2.679257e-01	0	29	0	200	2	1	9.936496e-01	25	535	2	490	8	1	1	27	786	0	199	2								-3.094573	1	1	121408	22	47	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.380000	0.260000	0.540000	0.380000	0.395652	0.380000	0	3.100000e-01	4.600000e-01
TNC	3371	broad.mit.edu	37	9	117826947	117826947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826947G>A	ENST00000350763.4	-	11	3877	c.3466C>T	c.(3466-3468)Ctc>Ttc	p.L1156F	TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					TCAGCAGAGAGCACTGGTGTT	0.512000																								0							SO:0001583	missense			ENST00000350763.4	1	1	hg19	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.728820|3.728820	0.69074|0.69074	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000350763;ENST00000341037;ENST00000423613	.|T;T;T	.|0.05081	.|3.5;3.5;3.5	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.30603|0.30603	0.0770|0.0770	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.957;0.998	.|P;D	.|0.70487	.|0.771;0.969	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.72032	.|D	.|0.01	.|.	19.1513|19.1513	0.93491|0.93491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1156;1156	.|E9PC84;P24821	.|.;TENA_HUMAN	V|F	82|1156	.|ENSP00000265131:L1156F;ENSP00000339553:L1156F;ENSP00000411406:L1156F	.|ENSP00000339553:L1156F	A|L	-|-	2|1	0|0	TNC|TNC	116866768|116866768	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	4.647000|4.647000	0.61418|0.61418	2.539000|2.539000	0.85634|0.85634	0.557000|0.557000	0.71058|0.71058	GCT|CTC		TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1	182	1027	0	238	0	9.855583e-01	1	38	0	238	2	1	1	76	408	0	423	2	1	1	178	1005	0	236	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNC	3371	broad.mit.edu	37	9	117827095	117827095	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117827095A>C	ENST00000350763.4	-	11	3729	c.3318T>G	c.(3316-3318)atT>atG	p.I1106M	TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					CCTGCACCTGAATGATAAAGT	0.602000																								0							SO:0001583	missense			ENST00000350763.4	1	1	hg19	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.00|14.00	2.406097|2.406097	0.42715|0.42715	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613|ENST00000544972	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.63|5.63	3.2|3.2	0.36748|0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.069034|.	0.56097|.	D|.	0.000025|.	T|T	0.65780|0.65780	0.2724|0.2724	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.79108|.	0.992;0.988|.	T|T	0.63699|0.63699	-0.6578|-0.6578	10|5	0.87932|.	D|.	0|.	.|.	0.971|0.971	0.01416|0.01416	0.4264:0.1535:0.2724:0.1477|0.4264:0.1535:0.2724:0.1477	.|.	1106;1106|.	E9PC84;P24821|.	.;TENA_HUMAN|.	M|A	1106|33	ENSP00000265131:I1106M;ENSP00000339553:I1106M;ENSP00000411406:I1106M|.	ENSP00000339553:I1106M|.	I|S	-|-	3|1	3|0	TNC|TNC	116866916|116866916	0.948000|0.948000	0.32251|0.32251	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	0.097000|0.097000	0.15168|0.15168	0.377000|0.377000	0.24735|0.24735	-0.408000|-0.408000	0.06270|0.06270	ATT|TCA		TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1	97	487	0	112	0	9.762610e-01	0	32	0	112	2	1	1	158	970	0	997	2	1	1	95	478	0	112	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNC	3371	broad.mit.edu	37	9	117845074	117845074	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117845074G>T	ENST00000350763.4	-	5	2555	c.2144C>A	c.(2143-2145)cCt>cAt	p.P715H	TNC_ENST00000535648.1_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H|TNC_ENST00000537320.1_Missense_Mutation_p.P715H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					CAGGCCTTCAGGTGCAGGTAA	0.468000																								0							SO:0001583	missense			ENST00000350763.4	1	1	hg19	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908000	0.92107	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.79940	-1.32;-0.68;-1.32;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.88	5.88	0.94601	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.050234	0.85682	D	0.000000	D	0.90188	0.6933	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90283	0.4316	10	0.87932	D	0	.	20.2092	0.98286	0.0:0.0:1.0:0.0	.	715;715	E9PC84;P24821	.;TENA_HUMAN	H	715	ENSP00000344400:P715H;ENSP00000438152:P715H;ENSP00000344555:P715H;ENSP00000345861:P715H;ENSP00000265131:P715H;ENSP00000339553:P715H;ENSP00000411406:P715H;ENSP00000443478:P715H;ENSP00000442242:P715H	ENSP00000344400:P715H	P	-	2	0	TNC	116884895	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.848000	0.99507	2.776000	0.95493	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	0	25	226	0	53	0	9.999926e-01	0	176	0	53	2	1	1	78	717	0	717	2	1	9.999999e-01	24	223	0	53	2								-2.920859	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.760000	1.000000	1.000000	0.972340	0.990000	1	9.300000e-01	1
TNC	3371	broad.mit.edu	37	9	117846513	117846513	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846513A>C	ENST00000350763.4	-	4	2517	c.2106T>G	c.(2104-2106)atT>atG	p.I702M	TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M|TNC_ENST00000537320.1_Missense_Mutation_p.I702M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					CGCTGACAGGAATGCTCTTCT	0.577000																								0							SO:0001583	missense			ENST00000350763.4	1	1	hg19	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399001	0.62177	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.53857	3.62;0.6;3.62;0.6;0.6;0.6;0.6;0.6;0.6	5.93	0.837	0.18896	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148317	0.64402	D	0.000010	T	0.64692	0.2621	M	0.63428	1.95	0.47308	D	0.999389	D;D	0.71674	0.998;0.996	D;D	0.76575	0.988;0.988	T	0.63492	-0.6625	10	0.62326	D	0.03	.	10.121	0.42621	0.6001:0.0:0.3999:0.0	.	702;702	E9PC84;P24821	.;TENA_HUMAN	M	702	ENSP00000344400:I702M;ENSP00000438152:I702M;ENSP00000344555:I702M;ENSP00000345861:I702M;ENSP00000265131:I702M;ENSP00000339553:I702M;ENSP00000411406:I702M;ENSP00000443478:I702M;ENSP00000442242:I702M	ENSP00000344400:I702M	I	-	3	3	TNC	116886334	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	0.856000	0.27818	0.146000	0.19002	0.533000	0.62120	ATT		TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1	59	313	0	100	0	1	0	143	0	100	2	1	1	77	344	0	445	2	1	1	58	305	0	100	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TNC	3371	broad.mit.edu	37	9	117846662	117846662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846662G>A	ENST00000350763.4	-	4	2368	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F	TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F|TNC_ENST00000537320.1_Missense_Mutation_p.L653F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					TACACGACAAGGTACTCTGTG	0.582000																								0							SO:0001583	missense			ENST00000350763.4	1	1	hg19	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180407	0.78677	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057231	0.64402	D	0.000001	T	0.75451	0.3851	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75357	-0.3346	10	0.56958	D	0.05	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	653;653	E9PC84;P24821	.;TENA_HUMAN	F	653	ENSP00000344400:L653F;ENSP00000438152:L653F;ENSP00000344555:L653F;ENSP00000345861:L653F;ENSP00000265131:L653F;ENSP00000339553:L653F;ENSP00000411406:L653F;ENSP00000443478:L653F;ENSP00000442242:L653F	ENSP00000344400:L653F	L	-	1	0	TNC	116886483	1.000000	0.71417	0.989000	0.46669	0.332000	0.28634	5.286000	0.65639	2.810000	0.96702	0.655000	0.94253	CTT		TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1	54	280	0	73	0	1	0	190	0	73	2	1	1	234	1077	0	1207	2	1	1	53	278	0	71	2								-3.240166	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TNC	3371	broad.mit.edu	37	9	117848402	117848402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848402G>T	ENST00000350763.4	-	3	2019	c.1608C>A	c.(1606-1608)tgC>tgA	p.C536*	TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*|TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					CCTGGCCATGGCAGTCATTTG	0.582000																								0							SO:0001587	stop_gained			ENST00000350763.4	0	1	hg19	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	39	7.851648	0.98525	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5669	0.61824	0.0709:0.0:0.9291:0.0	.	.	.	.	X	536	.	ENSP00000344400:C536X	C	-	3	2	TNC	116888223	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	2.341000	0.43983	2.822000	0.97130	0.563000	0.77884	TGC		TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	0	0	17	281	0	50	0	9.931702e-01	0	136	0	50	2	1	1	78	1053	0	981	2	1	9.999596e-01	17	272	0	50	2								-19.441770	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.650000	0.390000	0.970000	1.000000	0.671367	0.650000	0	5.100000e-01	8.200000e-01
TNC	3371	broad.mit.edu	37	9	117848462	117848462	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848462G>A	ENST00000350763.4	-	3	1959	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C|TNC_ENST00000537320.1_Silent_p.C516C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					CCTCACAGACGCACTGTCCGT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000350763.4	1	1	hg19	CCDS6811.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1	76	376	0	75	0	1	0	144	0	75	2	1	1	161	656	0	649	2	1	1	76	370	0	73	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNC	3371	broad.mit.edu	37	9	117849189	117849189	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117849189A>C	ENST00000350763.4	-	3	1232	c.821T>G	c.(820-822)tTt>tGt	p.F274C	TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C|TNC_ENST00000537320.1_Missense_Mutation_p.F274C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C			120					ATCGCCTGCAAAGCCATCGTG	0.577000																								0							SO:0001583	missense			ENST00000350763.4	1	1	hg19	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549785	0.27652	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.13	3.99	0.46301	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.150285	0.64402	D	0.000009	T	0.37945	0.1022	M	0.83012	2.62	0.48040	D	0.999571	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.24799	-1.0150	10	0.87932	D	0	.	10.3736	0.44068	0.9228:0.0:0.0772:0.0	.	274;274	E9PC84;P24821	.;TENA_HUMAN	C	274	ENSP00000344400:F274C;ENSP00000438152:F274C;ENSP00000344555:F274C;ENSP00000345861:F274C;ENSP00000265131:F274C;ENSP00000339553:F274C;ENSP00000411406:F274C;ENSP00000443478:F274C;ENSP00000442242:F274C	ENSP00000344400:F274C	F	-	2	0	TNC	116889010	0.991000	0.36638	0.873000	0.34254	0.049000	0.14656	3.069000	0.50026	1.075000	0.40932	0.460000	0.39030	TTT		TCGA-IB-7651-01A-11D-2154-08	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	1	0	1	81	438	0	95	0	9.999917e-01	0	92	0	95	2	1	1	173	800	0	971	2	1	1	81	433	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXD4	2298	broad.mit.edu	37	9	118009	118009	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118009G>A	ENST00000382500.2	-	1	408	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4			14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)		CCTCCTCCTCGTCTTCATCTT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000382500.2	1	1	hg19	CCDS34975.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	1	0	0	100	514	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	93	463	0	79	2								-20.000000	1	1	0	0		1						0.170000	2.060000									0	0
PAPPA	5069	broad.mit.edu	37	9	118950319	118950319	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118950319C>T	ENST00000328252.3	+	2	1671	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1			98					CGCTGACGGGCCACGACGGCG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000328252.3	1	1	hg19	CCDS6813.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	1	0	1	37	227	0	51	0	5.637143e-02	0	3	0	51	2		0	0	0	0	0	2	1	1	35	225	0	50	2								-3.321778	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999802	0.990000	1	9.900000e-01	1
PAPPA	5069	broad.mit.edu	37	9	119093522	119093522	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119093522G>A	ENST00000328252.3	+	11	3516		c.e11-1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1			98					TATTTTTCCAGGTGTGTCGAA	0.403000																								0							SO:0001630	splice_region_variant			ENST00000328252.3	1	1	hg19	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644489	0.87859	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA	118133343	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.079000	0.89508	2.882000	0.98803	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	1	0	0	51	179	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	51	176	0	46	2								-3.686617	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAPPA	5069	broad.mit.edu	37	9	119158837	119158837	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158837G>A	ENST00000328252.3	+	22	5195	c.4826G>A	c.(4825-4827)cGg>cAg	p.R1609Q	PAPPA_ENST00000483254.1_3'UTR|AL137024.1_ENST00000401363.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1			98					TGTGCTTGTCGGGACCCCCAG	0.517000																								0							SO:0001583	missense			ENST00000328252.3	1	1	hg19	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260667	0.59431	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.04156	4.48;3.69	5.61	4.7	0.59300	.	0.117087	0.64402	D	0.000014	T	0.10465	0.0256	L	0.55990	1.75	0.42726	D	0.993692	P;D	0.65815	0.948;0.995	B;P	0.50352	0.34;0.638	T	0.02031	-1.1226	10	0.66056	D	0.02	-14.1668	12.96	0.58453	0.0:0.0:0.7077:0.2923	.	647;1609	F5GZ19;Q13219	.;PAPP1_HUMAN	Q	1609;647	ENSP00000330658:R1609Q;ENSP00000441461:R647Q	ENSP00000330658:R1609Q	R	+	2	0	PAPPA	118198658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.218000	0.42889	1.357000	0.45904	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	1	0	1	120	646	0	163	0	7.694796e-01	0	17	0	163	2		0	0	0	0	0	2	1	1	119	636	0	162	2								-2.416202	0	1	121412	1	26	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PAPPA	5069	broad.mit.edu	37	9	119158838	119158838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158838G>A	ENST00000328252.3	+	22	5196	c.4827G>A	c.(4825-4827)cgG>cgA	p.R1609R	PAPPA_ENST00000483254.1_3'UTR|AL137024.1_ENST00000401363.1_RNA|PAPPA_ENST00000534838.1_Silent_p.R647R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1			98					GTGCTTGTCGGGACCCCCAGG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000328252.3	1	1	hg19	CCDS6813.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	1	0	1	115	641	0	161	0	7.528459e-01	0	17	0	161	2		0	0	0	0	0	2	1	1	115	632	0	159	2								-3.142871	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM32	22954	broad.mit.edu	37	9	119461183	119461183	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461183G>A	ENST00000450136.1	+	2	1323	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32			26					AGTACTAGTCGCTGACCGTGG	0.493000													Esophageal Squamous(92;212 1916 19711 26951)											0							SO:0001583	missense			ENST00000450136.1	1	1	hg19	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076522	0.76415	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.75154	-0.91;-0.91	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81829	-0.0753	9	.	.	.	-10.9153	19.0043	0.92844	0.0:0.0:1.0:0.0	.	388	Q13049	TRI32_HUMAN	T	388	ENSP00000408292:A388T;ENSP00000363095:A388T	.	A	+	1	0	TRIM32	118501004	1.000000	0.71417	0.993000	0.49108	0.840000	0.47671	9.434000	0.97515	2.481000	0.83766	0.650000	0.86243	GCT		TCGA-IB-7651-01A-11D-2154-08	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	0	0	1	110	480	0	110	1	9.995314e-01	12	39	0	110	2		0	0	0	0	0	2	1	1	109	475	0	109	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRIM32	22954	broad.mit.edu	37	9	119461253	119461253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461253C>T	ENST00000450136.1	+	2	1393	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32			26					CGCCGCAGCCCCAGTGGCATT	0.512000													Esophageal Squamous(92;212 1916 19711 26951)											0							SO:0001583	missense			ENST00000450136.1	1	1	hg19	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843637	0.51164	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.91295	-2.82;-2.82	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.145392	0.46442	D	0.000287	D	0.84329	0.5448	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78513	-0.2175	9	.	.	.	-12.8032	19.3288	0.94275	0.0:1.0:0.0:0.0	.	411	Q13049	TRI32_HUMAN	L	411	ENSP00000408292:P411L;ENSP00000363095:P411L	.	P	+	2	0	TRIM32	118501074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.551000	0.86045	0.650000	0.86243	CCC		TCGA-IB-7651-01A-11D-2154-08	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	1	0	1	192	737	0	202	1	9.938882e-01	7	25	0	202	2		0	0	0	0	0	2	1	1	189	727	0	201	2								-3.605859	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN2	23245	broad.mit.edu	37	9	119737600	119737600	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119737600G>A	ENST00000313400.4	-	10	1876	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	ASTN2_ENST00000361209.2_Silent_p.G541G|ASTN2_ENST00000373996.3_Silent_p.G588G|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2			102					GAAGCCAGAGGCCTTGGCCCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000313400.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	53	231	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1	52	229	0	62	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASTN2	23245	broad.mit.edu	37	9	119802151	119802151	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119802151C>T	ENST00000313400.4	-	6	1470	c.1370G>A	c.(1369-1371)tGt>tAt	p.C457Y	ASTN2_ENST00000361209.2_Missense_Mutation_p.C406Y|ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2			102					AGTGAGTGGACAAGACATCTG	0.537000																								0							SO:0001583	missense			ENST00000313400.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.68	3.873619	0.72180	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.16897	2.45;2.45;2.31;2.49	5.92	5.92	0.95590	.	0.113047	0.64402	D	0.000008	T	0.33876	0.0878	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.991;0.999	T	0.00731	-1.1590	9	.	.	.	-13.2905	20.3138	0.98647	0.0:1.0:0.0:0.0	.	406;457;457	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Y	457;457;184;406	ENSP00000314038:C457Y;ENSP00000363108:C457Y;ENSP00000363098:C184Y;ENSP00000354504:C406Y	.	C	-	2	0	ASTN2	118841972	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.459000	0.80802	2.814000	0.96858	0.585000	0.79938	TGT		TCGA-IB-7651-01A-11D-2154-08	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	27	117	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1	26	113	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999954	0.990000	1	9.900000e-01	1
TLR4	7099	broad.mit.edu	37	9	120475182	120475182	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:120475182T>C	ENST00000355622.6	+	3	877	c.776T>C	c.(775-777)gTt>gCt	p.V259A	TLR4_ENST00000394487.4_Missense_Mutation_p.V219A|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4			103				Naloxone(DB01183)	CATCGTTTGGTTCTGGGAGAA	0.353000																								0							SO:0001583	missense			ENST00000355622.6	1	1	hg19	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965554	0.34659	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37235	1.47;1.21	5.57	5.57	0.84162	.	0.285150	0.30285	N	0.009963	T	0.40145	0.1105	M	0.72118	2.19	0.09310	N	1	B	0.32893	0.389	B	0.31390	0.129	T	0.46428	-0.9192	10	0.72032	D	0.01	.	14.2982	0.66329	0.0:0.0:0.0:1.0	.	259	O00206	TLR4_HUMAN	A	219;259	ENSP00000377997:V219A;ENSP00000363089:V259A	ENSP00000363089:V259A	V	+	2	0	TLR4	119515003	0.999000	0.42202	0.527000	0.27925	0.514000	0.34195	4.087000	0.57671	2.120000	0.65058	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	0	0	0	19	631	0	118	0	3.992588e-01	0	45	0	118	2		0	0	0	0	0	2	1	9.999889e-01	19	619	0	117	2								-15.731250	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.330000	0.200000	0.500000	0.330000	0.347930	0.330000	0	2.600000e-01	4.200000e-01
CDK5RAP2	55755	broad.mit.edu	37	9	123206003	123206003	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123206003C>T	ENST00000349780.4	-	23	3222	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T|CDK5RAP2_ENST00000359309.3_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2			58					TGGTAGGCTGCTCCCACAGGG	0.453000																								0							SO:0001583	missense			ENST00000349780.4	1	1	hg19	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344123	0.05208	.	.	ENSG00000136861	ENST00000360822;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T	0.19669	3.8;3.81;3.71;2.13	4.71	-4.33	0.03677	.	1.501350	0.03992	N	0.295015	T	0.10165	0.0249	N	0.11560	0.145	0.25863	N	0.983799	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.003;0.001;0.003	T	0.27365	-1.0076	10	0.33141	T	0.24	.	5.7024	0.17889	0.0:0.2131:0.4026:0.3843	.	784;983;1015;1015;409	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	T	983;1015;1015;409;787	ENSP00000354065:A983T;ENSP00000343818:A1015T;ENSP00000353317:A1015T;ENSP00000400395:A409T	ENSP00000341695:A787T	A	-	1	0	CDK5RAP2	122245824	0.212000	0.23540	0.113000	0.21522	0.317000	0.28152	-0.748000	0.04818	-0.899000	0.03901	-0.371000	0.07208	GCA		TCGA-IB-7651-01A-11D-2154-08	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	1	0	1	75	415	0	90	1	9.998363e-01	23	49	0	90	2		0	0	0	0	0	2	1	1	74	407	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDK5RAP2	55755	broad.mit.edu	37	9	123253655	123253655	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123253655T>G	ENST00000349780.4	-	13	1591	c.1412A>C	c.(1411-1413)aAa>aCa	p.K471T	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2			58					ATTGTGCAATTTTTTATTGCT	0.323000																								0							SO:0001583	missense			ENST00000349780.4	1	1	hg19	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270117	0.23221	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	4.59	0.56863	.	0.397699	0.24240	N	0.040267	T	0.53706	0.1813	M	0.64997	1.995	0.09310	N	0.999992	D;D;P;D	0.56746	0.977;0.977;0.837;0.961	P;P;B;P	0.53593	0.73;0.656;0.373;0.541	T	0.45963	-0.9225	10	0.22109	T	0.4	.	10.8935	0.47008	0.1401:0.0:0.0:0.8599	.	272;471;471;471	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	T	471;471;471;471;473	ENSP00000354065:K471T;ENSP00000352258:K471T;ENSP00000343818:K471T;ENSP00000353317:K471T	ENSP00000341695:K473T	K	-	2	0	CDK5RAP2	122293476	0.842000	0.29525	0.005000	0.12908	0.050000	0.14768	3.341000	0.52151	0.965000	0.38133	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	1	0	1	54	195	0	60	1	1	34	66	0	60	2		0	0	0	0	0	2	1	1	52	190	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MEGF9	1955	broad.mit.edu	37	9	123384921	123384921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123384921G>A	ENST00000373930.3	-	3	1027	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9			16					CTGGCAGACCGATTATTGCAT	0.428000																								0							SO:0001583	missense			ENST00000373930.3	1	1	hg19	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004313	0.93287	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.63913	-0.07;-0.07	5.99	5.99	0.97316	.	0.135560	0.49916	D	0.000131	T	0.79161	0.4399	M	0.71871	2.18	0.45634	D	0.998565	D	0.89917	1.0	D	0.74348	0.983	T	0.78947	-0.2003	10	0.59425	D	0.04	-3.4395	18.6582	0.91462	0.0:0.0:1.0:0.0	.	343	C9J1K8	.	W	306;343	ENSP00000363040:R306W;ENSP00000392666:R343W	ENSP00000363040:R306W	R	-	1	2	MEGF9	122424742	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.816000	0.62642	2.840000	0.97914	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	1	0	1	30	180	0	45	1	9.834743e-01	6	36	0	45	2		0	0	0	0	0	2	1	1	30	166	0	40	2								-3.230200	1	1	120912	1	38	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999562	0.990000	1	9.900000e-01	1
FBXW2	26190	broad.mit.edu	37	9	123538497	123538497	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123538497G>A	ENST00000608872.1	-	5	880	c.693C>T	c.(691-693)agC>agT	p.S231S	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Silent_p.S166S	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2			4					TGTAGTCCACGCTAAATACTA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000608872.1	1	1	hg19	CCDS43872.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2	1	0	0	35	417	0	88	1	9.999503e-01	14	165	0	88	2		0	0	0	0	0	2	1	1	35	409	0	88	2								-9.306853	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.880000	0.630000	1.000000	1.000000	0.875028	0.880000	1	7.400000e-01	1
C5	727	broad.mit.edu	37	9	123751958	123751958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123751958G>A	ENST00000223642.1	-	24	3071	c.3042C>T	c.(3040-3042)agC>agT	p.S1014S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5			46				Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTGGGACAACGCTCATCAGCT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000223642.1	1	1	hg19	CCDS6826.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	0	0	1	54	195	1	51	1	6.152612e-01	7	7	1	51	3		0	0	0	0	0	2	1	9.999998e-01	53	192	1	51	16								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C5	727	broad.mit.edu	37	9	123753544	123753544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123753544G>A	ENST00000223642.1	-	23	2895	c.2866C>T	c.(2866-2868)Cga>Tga	p.R956*		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5			46				Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AACTCCTTTCGTCTGCTAATG	0.333000																								0							SO:0001587	stop_gained			ENST00000223642.1	0	1	hg19	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	40	8.235985	0.98719	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	.	.	.	5.7	2.66	0.31614	.	3.841640	0.00748	N	0.001054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6768	0.56899	0.0:0.0:0.5713:0.4287	.	.	.	.	X	956;1027	.	ENSP00000223642:R956X	R	-	1	2	C5	122793365	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	1.609000	0.36858	0.705000	0.31890	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	0	0	0	20	486	0	96	0	1.277754e-01	0	15	0	96	2		0	0	0	0	0	2	1	9.999949e-01	20	481	0	95	2								-3.893256	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.450000	0.280000	0.660000	0.440000	0.467684	0.450000	0	3.600000e-01	5.600000e-01
GSN	2934	broad.mit.edu	37	9	124081117	124081117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124081117G>A	ENST00000373818.4	+	9	1372	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	GSN_ENST00000545652.1_Missense_Mutation_p.A392T|GSN_ENST00000373823.3_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin			21					TGCCATGGCCGCCCAGCACGG	0.637000																								0							SO:0001583	missense			ENST00000373818.4	1	1	hg19	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501356	0.96371	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D	0.89917	0.992;0.998;0.963;1.0;0.997	P;P;B;D;P	0.81914	0.587;0.783;0.246;0.995;0.706	T	0.55573	-0.8120	10	0.54805	T	0.06	-29.0535	18.9865	0.92773	0.0:0.0:1.0:0.0	.	408;392;395;166;435	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	T	384;395;395;384;384;384;384;368;358;392;435;166	ENSP00000362929:A384T;ENSP00000411293:A395T;ENSP00000377882:A395T;ENSP00000409358:A384T;ENSP00000416586:A384T;ENSP00000340888:A384T;ENSP00000362914:A384T;ENSP00000445823:A392T;ENSP00000362924:A435T;ENSP00000362913:A166T	ENSP00000340888:A384T	A	+	1	0	GSN	123120938	1.000000	0.71417	0.985000	0.45067	0.830000	0.47004	9.301000	0.96167	2.724000	0.93272	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	1	0	1	98	365	0	96	1	1	132	1542	0	96	2		0	0	0	0	0	2	1	1	97	360	0	96	2								-3.741200	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GSN	2934	broad.mit.edu	37	9	124091191	124091191	+	Silent	SNP	C	C	T	rs145066574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124091191C>T	ENST00000373818.4	+	14	2007	c.1938C>T	c.(1936-1938)ggC>ggT	p.G646G	GSN_ENST00000545652.1_Silent_p.G603G|GSN_ENST00000373823.3_Silent_p.G595G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000412819.1_Silent_p.G595G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin			21					AGGCCCTGGGCGGGAAGGCTG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000373818.4	1	1	hg19	CCDS6828.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	1	0	0	14	233	0	44	1	1	16	1552	0	44	2		0	0	0	0	0	2	1	9.997521e-01	14	229	0	44	2								-16.891540	1	1	121412	7	38	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.650000	0.370000	1.000000	1.000000	0.670059	0.650000	0	5.000000e-01	8.300000e-01
STOM	2040	broad.mit.edu	37	9	124111572	124111572	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124111572G>A	ENST00000286713.2	-	5	368	c.351C>T	c.(349-351)agC>agT	p.S117S	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S66S	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin			6					CACCATCCACGCTAATTGTCA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000286713.2	1	1	hg19	CCDS6830.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	1	0	1	43	234	0	74	1	1	23	428	0	74	2		0	0	0	0	0	2	1	1	43	233	0	74	2								-19.982870	1	1	121412	2	38	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
DAB2IP	153090	broad.mit.edu	37	9	124522508	124522508	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124522508C>T	ENST00000408936.3	+	6	1142	c.960C>T	c.(958-960)ggC>ggT	p.G320G	DAB2IP_ENST00000309989.1_Silent_p.G196G|DAB2IP_ENST00000259371.2_Silent_p.G292G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein			27					ACCCCAAGGGCGGCAAGGGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000408936.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	1	0	1	38	212	0	52	1	9.999999e-01	55	93	0	52	2		0	0	0	0	0	2	1	1	38	210	0	52	2								-3.331747	1	1	121410	20	41	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	9.900000e-01	1
TTLL11	158135	broad.mit.edu	37	9	124751937	124751937	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124751937C>T	ENST00000373776.3	-	4	1263	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	TTLL11_ENST00000321582.5_Missense_Mutation_p.R359H|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11			18					CCCTGCCAGGCGGATGTCACT	0.517000																								0							SO:0001583	missense			ENST00000373776.3	1	1	hg19	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037292	0.75617	2.27E-4	2.33E-4	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05513	3.43;3.43	5.12	5.12	0.69794	.	0.073650	0.50627	D	0.000112	T	0.11495	0.0280	L	0.51422	1.61	0.53688	D	0.999979	P;P	0.49090	0.868;0.919	B;P	0.45681	0.294;0.49	T	0.01743	-1.1283	10	0.51188	T	0.08	.	17.5595	0.87902	0.0:1.0:0.0:0.0	.	359;359	F8W6M1;Q8NHH1	.;TTL11_HUMAN	H	359	ENSP00000321346:R359H;ENSP00000362881:R359H	ENSP00000321346:R359H	R	-	2	0	TTLL11	123791758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.584000	0.60971	2.391000	0.81399	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	1	0	1	113	549	0	128	0	6.781121e-01	1	12	0	128	2		0	0	0	0	0	2	1	1	113	538	0	123	2								-20.000000	1	1	121412	14	44	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDUFA8	4702	broad.mit.edu	37	9	124914656	124914656	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124914656G>A	ENST00000373768.3	-	2	224	c.83C>T	c.(82-84)gCg>gTg	p.A28V	NDUFA8_ENST00000537618.1_Missense_Mutation_p.A28V	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa			9					GTGATGGGCCGCAGCTTTAAG	0.478000																								0							SO:0001583	missense			ENST00000373768.3	1	1	hg19	CCDS6835.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428595	0.83667	.	.	ENSG00000119421	ENST00000537618;ENST00000373768	T;D	0.84730	-1.19;-1.89	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.91030	0.7178	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.91538	0.5247	10	0.51188	T	0.08	-19.6724	15.7391	0.77870	0.0:0.0:1.0:0.0	.	28	P51970	NDUA8_HUMAN	V	28	ENSP00000442247:A28V;ENSP00000362873:A28V	ENSP00000362873:A28V	A	-	2	0	NDUFA8	123954477	1.000000	0.71417	0.926000	0.36857	0.953000	0.61014	8.846000	0.92159	2.310000	0.77875	0.643000	0.83706	GCG		TCGA-IB-7651-01A-11D-2154-08	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1	1	0	1	38	162	0	45	1	1	84	241	0	45	2		0	0	0	0	0	2	1	1	38	158	0	45	2								-3.180150	1	1	121412	2	33	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
LHX6	26468	broad.mit.edu	37	9	124979498	124979498	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124979498G>A	ENST00000373755.2	-	4	552	c.444C>T	c.(442-444)cgC>cgT	p.R148R	LHX6_ENST00000373754.2_Silent_p.R148R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000541397.2_Silent_p.R166R|LHX6_ENST00000394319.4_Silent_p.R177R|LHX6_ENST00000340587.3_Silent_p.R177R	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6			8					AGGCGTTGCCGCGAGCTCTCC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000373755.2	1	1	hg19	CCDS56583.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	1	0	1	69	323	0	49	0	7.332973e-01	0	14	0	49	2		0	0	0	0	0	2	1	1	69	319	0	48	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTGS1	5742	broad.mit.edu	37	9	125148839	125148839	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125148839G>A	ENST00000362012.2	+	9	1129	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|AL162424.1_ENST00000600713.1_Intron	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)			8				Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TACCGCAACCGCATTGCCATG	0.537000																								0							SO:0001583	missense			ENST00000362012.2	1	1	hg19	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361091	0.82353	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.36	3.45	0.39498	.	0.048924	0.85682	D	0.000000	T	0.77818	0.4187	M	0.92555	3.32	0.80722	D	1	P;P;P	0.50710	0.772;0.938;0.855	P;P;P	0.49683	0.458;0.619;0.505	T	0.82285	-0.0533	10	0.87932	D	0	-22.6171	10.3217	0.43769	0.0749:0.1341:0.7911:0.0	.	350;375;375	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	350;375;375;266	ENSP00000437709:R350H;ENSP00000354612:R375H;ENSP00000223423:R375H;ENSP00000362802:R266H	ENSP00000223423:R375H	R	+	2	0	PTGS1	124188660	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.708000	0.84633	1.217000	0.43442	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1	0	0	0	39	987	0	186	0	7.376323e-01	0	68	0	186	2		0	0	0	0	0	2	1	1	39	974	0	183	2								-2.832219	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.430000	0.310000	0.580000	0.440000	0.442799	0.430000	0	3.600000e-01	5.100000e-01
OR1J2	26740	broad.mit.edu	37	9	125273896	125273896	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125273896C>A	ENST00000335302.5	+	1	816	c.816C>A	c.(814-816)gtC>gtA	p.V272V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2			26					ACAAGGATGTCATTGTGGCTC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000335302.5	1	1	hg19	CCDS35121.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1	1	0	1	110	640	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	1	108	630	0	148	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125316257G>A	ENST00000373688.2	+	1	867	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2			26					CTCTTCTATGGGTCTCTTATG	0.473000																								0							SO:0001583	missense			ENST00000373688.2	1	1	hg19	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511782	0.44660	.	.	ENSG00000171501	ENST00000373688	T	0.39056	1.1	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.138036	0.32819	N	0.005604	T	0.73321	0.3572	H	0.96489	3.83	0.09310	N	1	D	0.61697	0.99	D	0.74348	0.983	T	0.70543	-0.4843	10	0.72032	D	0.01	.	13.188	0.59693	0.0:0.0:0.8393:0.1607	.	270	Q8NGR9	OR1N2_HUMAN	E	270	ENSP00000362792:G270E	ENSP00000362792:G270E	G	+	2	0	OR1N2	124356078	0.000000	0.05858	0.212000	0.23672	0.842000	0.47809	-0.121000	0.10643	1.148000	0.42385	0.644000	0.83932	GGG		TCGA-IB-7651-01A-11D-2154-08	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2	1	0	1	118	498	0	103		0	0	0	0	103	2	1	1	90	363	0	478	2	1	1	118	487	0	103	2								-3.385352	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1L8	138881	broad.mit.edu	37	9	125329904	125329904	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125329904G>T	ENST00000304865.2	-	1	934	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8			20					AAAGGATTGAGCATGGATGAC	0.453000																								0							SO:0001583	missense			ENST00000304865.2	1	1	hg19	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326989	0.60743	.	.	ENSG00000171496	ENST00000304865	T	0.44083	0.93	4.64	0.718	0.18202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	N	0.002482	T	0.60689	0.2288	M	0.87456	2.885	0.26209	N	0.979325	D	0.69078	0.997	P	0.62491	0.903	T	0.55166	-0.8183	10	0.87932	D	0	-11.3452	9.2539	0.37571	0.3358:0.0:0.6642:0.0	.	285	Q8NGR8	OR1L8_HUMAN	I	285	ENSP00000306607:L285I	ENSP00000306607:L285I	L	-	1	0	OR1L8	124369725	0.000000	0.05858	0.905000	0.35620	0.963000	0.63663	-0.518000	0.06267	0.304000	0.22809	0.449000	0.29647	CTC		TCGA-IB-7651-01A-11D-2154-08	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1	1	0	1	92	495	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	91	487	0	91	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1Q1	158131	broad.mit.edu	37	9	125377105	125377105	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125377105T>G	ENST00000297913.2	+	1	158	c.89T>G	c.(88-90)gTt>gGt	p.V30G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1			17					CTCTTCCTTGTTTTCTCACTC	0.478000																								0							SO:0001583	missense			ENST00000297913.2	1	1	hg19	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765450	0.31228	.	.	ENSG00000165202	ENST00000297913	T	0.03152	4.03	5.43	5.43	0.79202	.	0.158012	0.30011	N	0.010629	T	0.04679	0.0127	L	0.31420	0.93	0.48830	D	0.99971	B	0.23735	0.09	B	0.26416	0.069	T	0.41342	-0.9514	10	0.87932	D	0	-2.0674	14.609	0.68501	0.0:0.0:0.0:1.0	.	30	Q15612	OR1Q1_HUMAN	G	30	ENSP00000297913:V30G	ENSP00000297913:V30G	V	+	2	0	OR1Q1	124416926	0.419000	0.25449	0.054000	0.19295	0.354000	0.29330	4.135000	0.57997	2.280000	0.76307	0.533000	0.62120	GTT		TCGA-IB-7651-01A-11D-2154-08	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1	1	0	1	133	674	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	1	131	653	0	157	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1L1	26737	broad.mit.edu	37	9	125423951	125423951	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125423951G>A	ENST00000373686.1	+	1	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K	OR1L1_ENST00000309623.1_5'Flank			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1			17					GATGTTGGAAGAATCTGTTAC	0.343000																								0							SO:0001583	missense			ENST00000373686.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.275	1.046613	0.19748	.	.	ENSG00000173679	ENST00000373686	T	0.00032	8.88	2.87	-2.74	0.05932	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06041	-1.0849	8	0.06494	T	0.89	.	5.6596	0.17662	0.6407:0.0:0.2074:0.1519	.	36	Q8NH94	OR1L1_HUMAN	K	36	ENSP00000362790:R36K	ENSP00000362790:R36K	R	+	2	0	OR1L1	124463772	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.408000	0.02485	-0.656000	0.05380	0.313000	0.20887	AGA		TCGA-IB-7651-01A-11D-2154-08	OR1L1-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	32	272	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	32	272	0	61	2								-3.318796	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.840000	1.000000	1.000000	0.987690	0.990000	1	9.900000e-01	1
OR1L1	26737	broad.mit.edu	37	9	125424359	125424359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125424359G>A	ENST00000373686.1	+	1	515	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1			17					GCCATTGACCGCTATGTGGCC	0.458000																								0							SO:0001583	missense			ENST00000373686.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	13.83	2.353302	0.41700	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.77489	-1.1;-1.1	3.11	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73273	0.3566	M	0.61703	1.905	0.27518	N	0.951488	B	0.21520	0.057	B	0.20184	0.028	T	0.66968	-0.5789	9	0.72032	D	0.01	.	9.2331	0.37450	0.1151:0.0:0.8849:0.0	.	172	Q8NH94	OR1L1_HUMAN	H	172;122	ENSP00000362790:R172H;ENSP00000310773:R122H	ENSP00000310773:R122H	R	+	2	0	OR1L1	124464180	0.996000	0.38824	0.317000	0.25265	0.010000	0.07245	7.528000	0.81941	0.623000	0.30267	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	OR1L1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	243	998	2	223		0	0	0	2	223	2		0	0	0	0	0	2	1	1	237	971	2	223	26								-20.000000	1	0	121412	1	42	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1L4	254973	broad.mit.edu	37	9	125486321	125486321	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486321T>A	ENST00000259466.1	+	1	53	c.53T>A	c.(52-54)cTc>cAc	p.L18H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4			20					CTCCTGGGCCTCTCTTCCAAC	0.502000																								0							SO:0001583	missense			ENST00000259466.1	1	1	hg19	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	t	14.80	2.644701	0.47258	.	.	ENSG00000136939	ENST00000259466	T	0.00342	8.03	3.94	3.94	0.45596	.	0.542857	0.15309	N	0.269196	T	0.00784	0.0026	M	0.92412	3.305	0.35383	D	0.79007	D	0.57571	0.98	P	0.53912	0.737	T	0.53279	-0.8461	10	0.87932	D	0	-9.9891	11.9185	0.52779	0.0:0.0:0.0:1.0	.	18	Q8NGR5	OR1L4_HUMAN	H	18	ENSP00000259466:L18H	ENSP00000259466:L18H	L	+	2	0	OR1L4	124526142	0.229000	0.23729	1.000000	0.80357	0.428000	0.31595	3.485000	0.53208	1.646000	0.50622	0.254000	0.18369	CTC		TCGA-IB-7651-01A-11D-2154-08	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1	0	0	1	154	664	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	1	151	631	0	143	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1L4	254973	broad.mit.edu	37	9	125486692	125486692	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486692T>C	ENST00000259466.1	+	1	424	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4			20					ACCATGGCATTGCCTACTCAT	0.517000																								0							SO:0001583	missense			ENST00000259466.1	1	1	hg19	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	1.757	-0.487723	0.04352	.	.	ENSG00000136939	ENST00000259466	T	0.00241	8.46	4.01	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.201999	0.35495	N	0.003172	T	0.00271	0.0008	M	0.84683	2.71	0.22620	N	0.998922	B	0.06786	0.001	B	0.11329	0.006	T	0.40496	-0.9560	10	0.87932	D	0	-15.3252	8.6337	0.33935	0.0:0.0963:0.0:0.9037	.	142	Q8NGR5	OR1L4_HUMAN	R	142	ENSP00000259466:C142R	ENSP00000259466:C142R	C	+	1	0	OR1L4	124526513	0.993000	0.37304	0.595000	0.28798	0.057000	0.15508	2.350000	0.44063	0.572000	0.29383	0.248000	0.18094	TGC		TCGA-IB-7651-01A-11D-2154-08	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1	0	0	1	176	804	0	189		0	0	0	0	189	2		0	0	0	0	0	2	1	1	174	785	0	194	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1L6	392390	broad.mit.edu	37	9	125512172	125512172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512172C>A	ENST00000373684.1	+	1	154	c.154C>A	c.(154-156)Ctg>Atg	p.L52M	OR1L6_ENST00000304720.2_Missense_Mutation_p.L16M			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6			12					CTTCATCCTCCTGGGCCTCTC	0.542000																								0							SO:0001583	missense			ENST00000373684.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	.	13.22	2.171199	0.38315	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00637	6.05;6.05	4.55	3.65	0.41850	.	0.000000	0.39475	N	0.001356	T	0.02012	0.0063	L	0.46947	1.48	0.28760	N	0.900933	D	0.76494	0.999	D	0.85130	0.997	T	0.31336	-0.9947	10	0.56958	D	0.05	-10.2205	10.6813	0.45815	0.0:0.9051:0.0:0.0949	.	52	Q8NGR2	OR1L6_HUMAN	M	52;16	ENSP00000362788:L52M;ENSP00000304235:L16M	ENSP00000304235:L16M	L	+	1	2	OR1L6	124551993	0.000000	0.05858	0.994000	0.49952	0.500000	0.33767	-0.367000	0.07553	1.267000	0.44247	-0.140000	0.14226	CTG		TCGA-IB-7651-01A-11D-2154-08	OR1L6-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	38	807	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	1	36	776	0	159	2								-3.195014	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.510000	0.360000	0.680000	0.510000	0.523349	0.510000	0	4.300000e-01	6.000000e-01
OR1L6	392390	broad.mit.edu	37	9	125512484	125512484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512484G>A	ENST00000373684.1	+	1	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	OR1L6_ENST00000304720.2_Missense_Mutation_p.A120T			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6			12					GGCCTCTATGGCCATCGACCG	0.512000																								0							SO:0001583	missense			ENST00000373684.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	.	24.0	4.485945	0.84854	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.13307	2.6;2.6	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.45657	0.1353	M	0.90425	3.115	0.48087	D	0.999587	D	0.76494	0.999	D	0.81914	0.995	T	0.56872	-0.7907	10	0.87932	D	0	-26.7787	16.7211	0.85410	0.0:0.0:1.0:0.0	.	156	Q8NGR2	OR1L6_HUMAN	T	156;120	ENSP00000362788:A156T;ENSP00000304235:A120T	ENSP00000304235:A120T	A	+	1	0	OR1L6	124552305	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.208000	0.65203	2.557000	0.86248	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	OR1L6-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	86	482	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	81	467	0	120	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1L6	392390	broad.mit.edu	37	9	125513037	125513037	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125513037A>G	ENST00000373684.1	+	1	1019	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	OR1L6_ENST00000304720.2_Missense_Mutation_p.K304R			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6			12					GGTTTGAAGAAATTACAGGAC	0.403000																								0							SO:0001583	missense			ENST00000373684.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	6.901	0.535842	0.13188	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.37915	1.17;1.17	4.11	2.99	0.34606	.	0.102660	0.42964	D	0.000632	T	0.12603	0.0306	N	0.04669	-0.19	0.30572	N	0.763362	B	0.17465	0.022	B	0.14578	0.011	T	0.28138	-1.0053	10	0.02654	T	1	-6.8199	7.3695	0.26794	0.8911:0.0:0.1089:0.0	.	340	Q8NGR2	OR1L6_HUMAN	R	340;304	ENSP00000362788:K340R;ENSP00000304235:K304R	ENSP00000304235:K304R	K	+	2	0	OR1L6	124552858	0.010000	0.17322	0.712000	0.30502	0.330000	0.28571	0.694000	0.25512	1.848000	0.53677	0.533000	0.62120	AAA		TCGA-IB-7651-01A-11D-2154-08	OR1L6-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	7	250	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	9.778015e-01	7	239	0	51	2								-3.512767	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.320000	0.140000	0.590000	0.300000	0.345538	0.320000	0	2.200000e-01	4.600000e-01
OR5C1	392391	broad.mit.edu	37	9	125551396	125551396	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125551396C>T	ENST00000373680.2	+	1	247	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1			20					CTCCACACACCTATGTACTTC	0.627000																								0							SO:0001583	missense			ENST00000373680.2	1	1	hg19	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780487	0.90195	.	.	ENSG00000148215	ENST00000373680	T	0.02032	4.49	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	U	0.002743	T	0.15696	0.0378	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00077	-1.2115	10	0.87932	D	0	.	17.8648	0.88793	0.0:1.0:0.0:0.0	.	62	Q8NGR4	OR5C1_HUMAN	L	62	ENSP00000362784:P62L	ENSP00000362784:P62L	P	+	2	0	OR5C1	124591217	1.000000	0.71417	0.938000	0.37757	0.973000	0.67179	4.795000	0.62489	2.741000	0.93983	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1	1	0	1	129	579	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1	128	566	0	127	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR1K1	392392	broad.mit.edu	37	9	125563013	125563013	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125563013C>T	ENST00000277309.2	+	1	644	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1			17					TCACCGAGGGCGCCGCAGTGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000277309.2	1	1	hg19	CCDS35132.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1	1	0	1	82	329	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	81	323	0	60	2								-3.628449	1	1	121412	26	45	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDCL	5082	broad.mit.edu	37	9	125585390	125585390	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125585390G>T	ENST00000259467.4	-	3	424	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like			10					TTCTTGATCAGCCTTTCCATC	0.522000																								0							SO:0001583	missense			ENST00000259467.4	1	1	hg19	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.433300|4.433300	0.83776|0.83776	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000436632;ENST00000394285|ENST00000259467	.|T	.|0.54071	.|0.59	5.98|5.98	5.08|5.08	0.68730|0.68730	.|Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69260|0.69260	0.3091|0.3091	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59767	.|0.986;0.986	.|D;D	.|0.64877	.|0.93;0.93	T|T	0.71251|0.71251	-0.4648|-0.4648	5|10	.|0.66056	.|D	.|0.02	-16.2229|-16.2229	14.7352|14.7352	0.69412|0.69412	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|87;87	.|Q4VXB6;Q13371	.|.;PHLP_HUMAN	D|M	53;75|87	.|ENSP00000259467:L87M	.|ENSP00000259467:L87M	A|L	-|-	2|1	0|2	PDCL|PDCL	124625211|124625211	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.470000|9.470000	0.97683|0.97683	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	GCT|CTG		TCGA-IB-7651-01A-11D-2154-08	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	1	0	1	153	724	0	141	1	1	27	122	0	141	2		0	0	0	0	0	2	1	1	150	706	0	140	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RC3H2	54542	broad.mit.edu	37	9	125627791	125627791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125627791G>A	ENST00000373670.1	-	9	2071	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S	RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S|RC3H2_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2			33					TTTGTACTTGGAACAATTTTC	0.403000																								0							SO:0001583	missense			ENST00000373670.1	1	1	hg19	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765436	0.69878	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.43294	0.95;0.95;0.96	5.97	4.12	0.48240	.	0.260591	0.38720	N	0.001600	T	0.48333	0.1494	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	T	0.33979	-0.9847	10	0.24483	T	0.36	-8.3702	14.8346	0.70172	0.0:0.2712:0.7288:0.0	.	491;491	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	S	491;491;362;491	ENSP00000362774:P491S;ENSP00000349783:P491S;ENSP00000411767:P491S	ENSP00000349783:P491S	P	-	1	0	RC3H2	124667612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.727000	0.47311	0.841000	0.35020	-0.156000	0.13503	CCA		TCGA-IB-7651-01A-11D-2154-08	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	1	0	1	63	350	0	92	1	9.998732e-01	15	60	0	92	2		0	0	0	0	0	2	1	1	63	345	0	92	2								-3.225120	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RC3H2	54542	broad.mit.edu	37	9	125652725	125652725	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125652725C>A	ENST00000373670.1	-	3	1049	c.449G>T	c.(448-450)aGa>aTa	p.R150I	RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2			33					TCGCATGGCTCTTACACGACC	0.502000																								0							SO:0001583	missense			ENST00000373670.1	1	1	hg19	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269290	0.95429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;1.0;0.994	D;D;D;D	0.83275	0.979;0.944;0.996;0.975	D	0.98019	1.0370	10	0.87932	D	0	-25.9351	18.5797	0.91166	0.0:1.0:0.0:0.0	.	150;150;150;150	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	I	150;150;21;150;150;150	ENSP00000362774:R150I;ENSP00000349783:R150I;ENSP00000411767:R150I;ENSP00000362769:R150I;ENSP00000335150:R150I	ENSP00000335150:R150I	R	-	2	0	RC3H2	124692546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.636000	0.89361	0.491000	0.48974	AGA		TCGA-IB-7651-01A-11D-2154-08	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	1	0	1	79	283	0	69	1	9.999999e-01	19	66	0	69	2		0	0	0	0	0	2	1	1	78	273	0	68	2								-3.882708	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RC3H2	54542	broad.mit.edu	37	9	125659639	125659639	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659639A>G	ENST00000373670.1	-	1	750	c.150T>C	c.(148-150)tgT>tgC	p.C50C	RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Silent_p.C50C|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000423239.2_Silent_p.C50C|RC3H2_ENST00000471874.2_Silent_p.C50C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2			33					GGTCAAAAGGACAAGCTTTTC	0.403000																								0							SO:0001819	synonymous_variant			ENST00000373670.1	1	1	hg19	CCDS43874.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	1	0	0	28	205	0	50	1	9.854984e-01	6	46	0	50	2		0	0	0	0	0	2	1	1	27	202	0	50	2								-13.020560	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.930000	1.000000	1.000000	0.996012	0.990000	1	9.900000e-01	1
RC3H2	54542	broad.mit.edu	37	9	125659725	125659725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659725C>T	ENST00000373670.1	-	1	664	c.64G>A	c.(64-66)Gat>Aat	p.D22N	RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2			33					ACATTCTCATCAAATTCATTA	0.443000																								0							SO:0001583	missense			ENST00000373670.1	1	1	hg19	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125828	0.94429	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	N	0.16903	0.455	0.58432	D	0.999999	B;D;B;D	0.67145	0.02;0.993;0.033;0.996	B;D;B;D	0.79784	0.072;0.971;0.036;0.993	D	0.87560	0.2471	10	0.34782	T	0.22	4.0E-4	19.8676	0.96824	0.0:1.0:0.0:0.0	.	22;22;22;22	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	N	22	ENSP00000362774:D22N;ENSP00000349783:D22N;ENSP00000411767:D22N;ENSP00000362769:D22N;ENSP00000335150:D22N	ENSP00000335150:D22N	D	-	1	0	RC3H2	124699546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	1	0	1	19	124	0	37	1	9.290147e-01	10	22	0	37	2		0	0	0	0	0	2	1	9.999932e-01	19	122	0	35	2								-20.000000	1	0	120848	1	28	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.920000	1.000000	1.000000	0.995370	0.990000	1	9.900000e-01	1
ZBTB26	57684	broad.mit.edu	37	9	125681859	125681859	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125681859A>G	ENST00000373656.3	-	2	428	c.355T>C	c.(355-357)Tgc>Cgc	p.C119R	ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26			11					GCCTGTGTGCACCGTTCTACA	0.443000																								0							SO:0001583	missense			ENST00000373656.3	1	1	hg19	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955099	0.53293	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.33438	1.41;1.41	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76647	-0.2882	10	0.87932	D	0	.	15.6989	0.77528	1.0:0.0:0.0:0.0	.	119	Q9HCK0	ZBT26_HUMAN	R	119	ENSP00000362760:C119R;ENSP00000362758:C119R	ENSP00000362758:C119R	C	-	1	0	ZBTB26	124721680	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.962000	0.93254	2.107000	0.64212	0.482000	0.46254	TGC		TCGA-IB-7651-01A-11D-2154-08	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	1	0	0	44	486	0	82	0	4.829041e-01	0	19	0	82	2		0	0	0	0	0	2	1	1	44	473	0	81	2								-12.088550	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.940000	0.700000	1.000000	1.000000	0.921154	0.940000	1	8.100000e-01	1
RABGAP1	23637	broad.mit.edu	37	9	125746835	125746835	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125746835C>T	ENST00000373647.4	+	3	356	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1			41					CTCCAATGGACGACCAGCCAG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000373647.4	1	1	hg19	CCDS6848.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	1	0	1	30	204	0	73	1	9.996364e-01	16	70	0	73	2		0	0	0	0	0	2	1	1	31	201	0	72	2								-20.000000	1	1	121412	5	35	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.998424	0.990000	1	9.900000e-01	1
RABGAP1	23637	broad.mit.edu	37	9	125758828	125758828	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125758828C>A	ENST00000373647.4	+	8	1179	c.1045C>A	c.(1045-1047)Ctt>Att	p.L349I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1			41					GTGTTTTGGTCTTCTCCTTAG	0.289000																								0							SO:0001583	missense			ENST00000373647.4	0	1	hg19	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843805	0.71488	.	.	ENSG00000011454	ENST00000373647;ENST00000426918	T	0.05996	3.36	5.73	4.82	0.62117	.	0.077131	0.53938	D	0.000052	T	0.11281	0.0275	L	0.47190	1.495	0.80722	D	1	P	0.42337	0.776	P	0.48840	0.592	T	0.01748	-1.1282	10	0.66056	D	0.02	-7.2032	10.123	0.42632	0.0:0.7907:0.1382:0.0711	.	349	Q9Y3P9	RBGP1_HUMAN	I	349;180	ENSP00000362751:L349I	ENSP00000362751:L349I	L	+	1	0	RABGAP1	124798649	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.590000	0.53979	1.389000	0.46526	0.591000	0.81541	CTT		TCGA-IB-7651-01A-11D-2154-08	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	0	0	0	7	290	0	60	1	5.869346e-01	2	76	0	60	2		0	0	0	0	0	2	1	9.799894e-01	7	286	0	59	2								-3.093121	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.280000	0.120000	0.510000	0.260000	0.300240	0.280000	0	1.900000e-01	4.000000e-01
GPR21	2844	broad.mit.edu	37	9	125797524	125797524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125797524G>A	ENST00000373642.1	+	1	719	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21			15					GGATATCAGCGAAAGGCAAGC	0.512000																								0							SO:0001583	missense			ENST00000373642.1	1	1	hg19	CCDS6849.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	0.383	-0.927655	0.02377	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.37058	1.22	5.67	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.157646	0.38605	N	0.001629	T	0.21550	0.0519	L	0.28556	0.865	0.80722	D	1	P	0.40660	0.726	B	0.38655	0.278	T	0.08617	-1.0713	10	0.02654	T	1	-1.093	11.394	0.49830	0.1967:0.0:0.8033:0.0	.	227	Q99679	GPR21_HUMAN	K	227	ENSP00000362746:E227K	ENSP00000362746:E227K	E	+	1	0	GPR21	124837345	1.000000	0.71417	0.999000	0.59377	0.706000	0.40770	3.264000	0.51553	0.358000	0.24211	-1.399000	0.01144	GAA		TCGA-IB-7651-01A-11D-2154-08	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	1	0	1	137	571	0	154		0	0	0	0	154	2		0	0	0	0	0	2	1	1	136	558	0	154	2								-3.503301	1	1	121412	4	37	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RABGAP1	23637	broad.mit.edu	37	9	125863974	125863974	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125863974C>A	ENST00000373647.4	+	25	3153	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1			41					CAAGAACCAGCTGAGAGAAAT	0.488000																								0							SO:0001583	missense			ENST00000373647.4	1	1	hg19	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946014	0.73672	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.17528	3.2;2.27	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	T	0.23766	0.0575	L	0.51422	1.61	0.80722	D	1	P	0.42357	0.777	B	0.42555	0.391	T	0.00529	-1.1687	10	0.51188	T	0.08	-14.6153	19.5755	0.95441	0.0:1.0:0.0:0.0	.	1007	Q9Y3P9	RBGP1_HUMAN	M	1007;346	ENSP00000362751:L1007M;ENSP00000362747:L346M	ENSP00000362747:L346M	L	+	1	2	RABGAP1	124903795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.964000	0.56780	2.865000	0.98341	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	1	0	1	36	165	0	67	1	1	39	107	0	67	2		0	0	0	0	0	2	1	1	35	164	0	67	2								-20.000000	1	1	121412	1	29	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
CRB2	286204	broad.mit.edu	37	9	126132468	126132468	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132468G>A	ENST00000373631.3	+	7	1137	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	CRB2_ENST00000359999.3_Missense_Mutation_p.G379D|CRB2_ENST00000373629.2_Missense_Mutation_p.G47D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2			23					ACTGTGGCAGGCTATATCTGC	0.627000																								0							SO:0001583	missense			ENST00000373631.3	1	1	hg19	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	0.707	-0.788613	0.02884	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92965	-2.27;-2.27;-3.14	4.86	2.63	0.31362	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.209127	0.24215	N	0.040488	D	0.86590	0.5969	M	0.67953	2.075	0.32023	N	0.600576	B;B	0.12013	0.005;0.005	B;B	0.14578	0.005;0.011	T	0.74985	-0.3477	10	0.14656	T	0.56	.	2.3514	0.04284	0.2896:0.3183:0.392:0.0	.	379;379	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	D	379;379;47	ENSP00000353092:G379D;ENSP00000362734:G379D;ENSP00000362732:G47D	ENSP00000353092:G379D	G	+	2	0	CRB2	125172289	0.978000	0.34361	0.979000	0.43373	0.061000	0.15899	0.925000	0.28791	0.978000	0.38470	0.448000	0.29417	GGC		TCGA-IB-7651-01A-11D-2154-08	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	1	0	1	58	250	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	56	241	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CRB2	286204	broad.mit.edu	37	9	126132762	126132762	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132762G>T	ENST00000373631.3	+	7	1431	c.1430G>T	c.(1429-1431)cGc>cTc	p.R477L	CRB2_ENST00000359999.3_Missense_Mutation_p.R477L|CRB2_ENST00000373629.2_Missense_Mutation_p.R145L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2			23					TTGGCCACTCGCAATGACACC	0.617000																								0							SO:0001583	missense			ENST00000373631.3	1	1	hg19	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528863	0.27387	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.75477	-0.94;-0.94;-0.94	4.94	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.381500	0.19233	N	0.119356	T	0.63604	0.2525	L	0.43598	1.365	0.50039	D	0.999842	B;P	0.37233	0.22;0.588	B;B	0.36719	0.165;0.231	T	0.54523	-0.8281	10	0.27785	T	0.31	.	9.2438	0.37513	0.0768:0.0:0.7738:0.1494	.	477;477	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	L	477;477;145	ENSP00000353092:R477L;ENSP00000362734:R477L;ENSP00000362732:R145L	ENSP00000353092:R477L	R	+	2	0	CRB2	125172583	0.982000	0.34865	0.546000	0.28166	0.431000	0.31685	2.445000	0.44899	0.453000	0.26858	0.448000	0.29417	CGC		TCGA-IB-7651-01A-11D-2154-08	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	1	0	1	39	164	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	38	160	0	64	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DENND1A	57706	broad.mit.edu	37	9	126202642	126202642	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126202642T>C	ENST00000373624.2	-	19	1686	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	DENND1A_ENST00000542603.1_Silent_p.G237G|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000394219.3_Silent_p.G463G|DENND1A_ENST00000394215.2_Silent_p.G465G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A			43					TACACACCTGTCCAAAGTGGA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000373624.2	1	1	hg19	CCDS35133.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	1	0	1	38	191	0	45	1	1	57	88	0	45	2		0	0	0	0	0	2	1	1	36	185	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
TYRP1	7306	broad.mit.edu	37	9	12709023	12709023	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12709023C>A	ENST00000388918.5	+	8	1584	c.1455C>A	c.(1453-1455)ggC>ggA	p.G485G	TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Silent_p.G195G|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Silent_p.G194G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1			22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)			CAGTAGTTGGCGCTTTGTTAC	0.403000									Oculocutaneous Albinism															0							SO:0001819	synonymous_variant	Familial Cancer Database		ENST00000388918.5	1	1	hg19	CCDS34990.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	0	0	0	10	285	0	58	0	1.978472e-02	0	6	0	58	2		0	0	0	0	0	2	1	9.966863e-01	10	279	0	58	2								-3.289627	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.390000	0.200000	0.660000	0.380000	0.412231	0.390000	0	2.800000e-01	5.300000e-01
PSMB7	5695	broad.mit.edu	37	9	127177699	127177699	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127177699C>T	ENST00000259457.3	-	1	19	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PSMB7_ENST00000498485.1_5'Flank|PSMB7_ENST00000536392.1_Silent_p.A2A	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7			5					CCGACACAGCCGCCATCTTCC	0.617000											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000259457.3	1	1	hg19	CCDS6855.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	1	0	1	43	155	0	34	1	1	75	378	0	34	2		0	0	0	0	0	2	1	1	43	153	0	33	2								-20.000000	1	1	121412	1	24	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR5A1	2516	broad.mit.edu	37	9	127262888	127262888	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127262888G>A	ENST00000373588.4	-	4	547	c.351C>T	c.(349-351)ggC>ggT	p.G117G		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1			2					CCAGCTTGAAGCCATTGGCCC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000373588.4	1	1	hg19	CCDS6856.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	1	0	1	47	190	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1	47	188	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NR6A1	2649	broad.mit.edu	37	9	127306128	127306128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127306128C>A	ENST00000487099.2	-	4	551	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1			17					ATGCCATCTTCTCTGATAGCT	0.493000													Esophageal Squamous(192;272 2884 6208 20560)											0							SO:0001587	stop_gained			ENST00000487099.2	0	1	hg19	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332443	0.95733	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.7859	0.88538	0.0:1.0:0.0:0.0	.	.	.	.	X	132;128;128;132;90	.	ENSP00000341135:E132X	E	-	1	0	NR6A1	126345949	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.177000	0.77650	2.418000	0.82041	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4	1	0	1	33	143	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	32	139	0	46	2								-19.865920	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
OLFML2A	169611	broad.mit.edu	37	9	127549269	127549269	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127549269G>T	ENST00000373580.3	+	2	106	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A			25					TGGGGACCTGGACCAGGTGAG	0.647000																								0							SO:0001583	missense			ENST00000373580.3	1	1	hg19	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613585	0.87359	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.52754	0.65;0.65	5.73	5.73	0.89815	.	0.109377	0.64402	D	0.000008	T	0.69762	0.3147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.94	T	0.72204	-0.4361	10	0.87932	D	0	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	36;36	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	Y	36	ENSP00000336425:D36Y;ENSP00000362682:D36Y	ENSP00000336425:D36Y	D	+	1	0	OLFML2A	126589090	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.587000	0.82613	2.699000	0.92147	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	1	0	1	138	645	0	153	0	1.470851e-01	0	4	0	153	2		0	0	0	0	0	2	1	1	137	629	0	147	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OLFML2A	169611	broad.mit.edu	37	9	127572492	127572492	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572492C>A	ENST00000373580.3	+	8	1760	c.1760C>A	c.(1759-1761)gCc>gAc	p.A587D	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A			25					ATCCTGTATGCCGTGGACACG	0.657000																								0							SO:0001583	missense			ENST00000373580.3	1	1	hg19	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	31	5.059241	0.93846	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.90563	1.27;-2.69	5.52	5.52	0.82312	Olfactomedin-like (3);	0.057190	0.64402	D	0.000001	D	0.96172	0.8752	M	0.91510	3.215	0.80722	D	1	D;D	0.56968	0.974;0.978	D;D	0.65233	0.915;0.933	D	0.96831	0.9611	10	0.87932	D	0	.	18.0092	0.89218	0.0:1.0:0.0:0.0	.	373;587	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	D	279;587;373	ENSP00000362682:A587D;ENSP00000288815:A373D	ENSP00000288815:A373D	A	+	2	0	OLFML2A	126612313	1.000000	0.71417	0.955000	0.39395	0.823000	0.46562	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	1	0	1	70	335	0	53	0	9.325272e-01	0	24	0	53	2		0	0	0	0	0	2	1	1	70	333	0	53	2								-3.183875	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OLFML2A	169611	broad.mit.edu	37	9	127572610	127572610	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572610C>T	ENST00000373580.3	+	8	1878	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	OLFML2A_ENST00000288815.5_Silent_p.I412I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A			25					CCACCCAGATCGACTACAACC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000373580.3	1	1	hg19	CCDS6857.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	1	0	1	56	306	0	54	0	6.209677e-01	0	13	0	54	2		0	0	0	0	0	2	1	1	53	300	0	52	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
RPL35	11224	broad.mit.edu	37	9	127620235	127620235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127620235G>A	ENST00000348462.3	-	4	382	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35			4					GGGTACAGCCGCTCCTTCCGC	0.602000																								0							SO:0001583	missense			ENST00000348462.3	1	1	hg19	CCDS6858.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057092	0.76074	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.76	5.76	0.90799	.	0.157858	0.56097	N	0.000023	T	0.64800	0.2631	L	0.49778	1.585	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.58278	-0.7664	9	0.45353	T	0.12	.	19.3119	0.94192	0.0:0.0:1.0:0.0	.	112	P42766	RL35_HUMAN	W	112	.	ENSP00000259469:R112W	R	-	1	2	RPL35	126660056	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.313000	0.65798	2.882000	0.98803	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	1	0	1	53	260	0	55	1	1	1010	3264	0	55	2		0	0	0	0	0	2	1	1	51	254	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARPC5L	81873	broad.mit.edu	37	9	127639172	127639172	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127639172G>A	ENST00000353214.2	+	6	1667	c.415G>A	c.(415-417)Gga>Aga	p.G139R	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like			3					AGCAGTAGGAGGACTAGGCTC	0.483000																								0							SO:0001583	missense			ENST00000353214.2	1	1	hg19	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599791	0.87055	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89478	0.3748	9	0.87932	D	0	-13.7536	14.1836	0.65590	0.0713:0.0:0.9287:0.0	.	139	Q9BPX5	ARP5L_HUMAN	R	139	.	ENSP00000259477:G139R	G	+	1	0	ARPC5L	126678993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.117000	0.94347	1.520000	0.48965	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	1	0	1	49	205	0	44	1	1	135	216	0	44	2		0	0	0	0	0	2	1	1	49	200	0	44	2								-3.152204	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCAI	286205	broad.mit.edu	37	9	127791943	127791943	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127791943C>T	ENST00000336505.6	-	4	364	c.306G>A	c.(304-306)tgG>tgA	p.W102*	SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion			35					GCTGGAACTTCCAGAGTTTGG	0.368000																								0							SO:0001587	stop_gained			ENST00000336505.6	0	1	hg19	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	36	5.853612	0.97030	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7216	18.7503	0.91812	0.0:1.0:0.0:0.0	.	.	.	.	X	102;125	.	ENSP00000336756:W102X	W	-	3	0	SCAI	126831764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.488000	0.81441	2.775000	0.95449	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	1	0	1	31	130	0	49	0	3.357064e-01	1	5	0	49	2		0	0	0	0	0	2	1	1	29	128	0	49	2								-19.509760	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
PPP6C	5537	broad.mit.edu	37	9	127912091	127912091	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127912091T>G	ENST00000373547.4	-	7	878	c.779A>C	c.(778-780)aAt>aCt	p.N260T	PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T|PPP6C_ENST00000451402.1_Missense_Mutation_p.N297T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit			14					ATAGCAGTAATTAGGAGCAGA	0.393000																								0							SO:0001583	missense			ENST00000373547.4	1	1	hg19	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.175190	0.57692	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.52	5.52	0.82312	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.90237	0.4283	10	0.87932	D	0	-14.2754	14.812	0.70003	0.0:0.0:0.0:1.0	.	238;297;260	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	T	260;297;238;113	ENSP00000362648:N260T;ENSP00000392147:N297T;ENSP00000411744:N238T;ENSP00000362647:N113T	ENSP00000362647:N113T	N	-	2	0	PPP6C	126951912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.650000	0.83521	2.093000	0.63338	0.455000	0.32223	AAT		TCGA-IB-7651-01A-11D-2154-08	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	1	0	1	38	191	0	40	1	1	83	234	0	40	2		0	0	0	0	0	2	1	1	38	187	0	40	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
RABEPK	10244	broad.mit.edu	37	9	127990330	127990330	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127990330T>C	ENST00000373538.3	+	6	978	c.668T>C	c.(667-669)aTt>aCt	p.I223T	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.I223T|RABEPK_ENST00000259460.8_Missense_Mutation_p.I172T	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs			15					CTCCACTGCATTGATATAAGT	0.458000																								0							SO:0001583	missense			ENST00000373538.3	0	1	hg19	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035062	0.54896	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.63913	-0.07;-0.07;-0.07	5.13	5.13	0.70059	Kelch-type beta propeller (1);	0.210427	0.48286	D	0.000200	T	0.63570	0.2522	M	0.74881	2.28	0.80722	D	1	B;B;B	0.25609	0.016;0.13;0.016	B;B;B	0.24974	0.012;0.057;0.012	T	0.65055	-0.6261	10	0.54805	T	0.06	-8.861	14.4082	0.67096	0.0:0.0:0.0:1.0	.	223;172;223	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	T	223;172;223	ENSP00000377683:I223T;ENSP00000259460:I172T;ENSP00000362639:I223T	ENSP00000259460:I172T	I	+	2	0	RABEPK	127030151	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.211000	0.77933	2.188000	0.69820	0.514000	0.50259	ATT		TCGA-IB-7651-01A-11D-2154-08	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	0	0	0	12	172	0	29	1	9.925743e-01	8	114	0	29	2		0	0	0	0	0	2	1	9.991603e-01	12	170	0	28	2								-16.589550	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.750000	0.410000	1.000000	1.000000	0.756951	0.750000	0	5.600000e-01	9.700000e-01
HSPA5	3309	broad.mit.edu	37	9	128000926	128000926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128000926C>T	ENST00000324460.6	-	6	1380	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)			23				Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TACGCTACAGCTTCATCTGGG	0.473000										Prostate(1;0.17)														0							SO:0001583	missense			ENST00000324460.6	1	1	hg19	CCDS6863.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	32	5.158521	0.94686	.	.	ENSG00000044574	ENST00000324460	T	0.01313	5.02	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35450	-0.9788	10	0.87932	D	0	-2.8727	16.4549	0.84009	0.0:1.0:0.0:0.0	.	393	P11021	GRP78_HUMAN	T	393	ENSP00000324173:A393T	ENSP00000324173:A393T	A	-	1	0	HSPA5	127040747	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.097000	0.63578	0.563000	0.77884	GCT		TCGA-IB-7651-01A-11D-2154-08	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1	1	0	1	64	372	0	74	1	1	1448	3238	0	74	2		0	0	0	0	0	2	1	1	64	366	0	74	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
HSPA5	3309	broad.mit.edu	37	9	128001387	128001387	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001387C>A	ENST00000324460.6	-	5	1032	c.829G>T	c.(829-831)Gat>Tat	p.D277Y	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	p.D277Y(1)		23				Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TTCCTGACATCTTTGCCCGTC	0.468000										Prostate(1;0.17)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000324460.6	1	1	hg19	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697494	0.68386	.	.	ENSG00000044574	ENST00000324460	T	0.01705	4.68	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	H	0.99475	4.585	0.80722	D	1	P	0.44044	0.825	B	0.43728	0.429	T	0.37009	-0.9724	10	0.87932	D	0	-12.4	15.4514	0.75277	0.0:1.0:0.0:0.0	.	277	P11021	GRP78_HUMAN	Y	277	ENSP00000324173:D277Y	ENSP00000324173:D277Y	D	-	1	0	HSPA5	127041208	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.795000	0.85887	1.864000	0.54056	0.462000	0.41574	GAT		TCGA-IB-7651-01A-11D-2154-08	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1	1	0	1	55	283	0	50	1	1	2109	2874	0	50	2		0	0	0	0	0	2	1	1	55	275	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
HSPA5	3309	broad.mit.edu	37	9	128001525	128001525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001525C>T	ENST00000324460.6	-	5	894	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)			23				Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	AGAGACACATCGAAGGTTCCG	0.488000										Prostate(1;0.17)														0							SO:0001583	missense			ENST00000324460.6	1	1	hg19	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581633	0.86748	.	.	ENSG00000044574	ENST00000324460;ENST00000401067	T	0.16324	2.35	4.36	4.36	0.52297	Heat shock protein 70, conserved site (1);	0.046186	0.85682	N	0.000000	T	0.45994	0.1370	H	0.99555	4.625	0.80722	D	1	P	0.39624	0.681	B	0.40228	0.323	T	0.70839	-0.4763	10	0.87932	D	0	-13.7685	15.8757	0.79159	0.0:1.0:0.0:0.0	.	231	P11021	GRP78_HUMAN	N	231	ENSP00000324173:D231N	ENSP00000324173:D231N	D	-	1	0	HSPA5	127041346	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	7.795000	0.85887	1.964000	0.57103	0.462000	0.41574	GAT		TCGA-IB-7651-01A-11D-2154-08	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1	1	0	1	25	206	0	43	1	1	1264	4849	0	43	2		0	0	0	0	0	2	1	9.999999e-01	25	204	0	42	2								-3.221938	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.820000	1.000000	1.000000	0.986124	0.990000	1	9.900000e-01	1
GAPVD1	26130	broad.mit.edu	37	9	128099755	128099755	+	Missense_Mutation	SNP	G	G	A	rs138389331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099755G>A	ENST00000495955.1	+	17	3052	c.2762G>A	c.(2761-2763)cGt>cAt	p.R921H	GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R921H|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1			44					TGGAACCGGCGTCCAGGAAAT	0.522000																								0							SO:0001583	missense			ENST00000495955.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.544289|5.544289	0.96488|0.96488	4.54E-4|4.54E-4	0.0|0.0	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57007|0.57007	0.2024|0.2024	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.999;0.999;0.999;1.0|.	D;D;D;D;D;D|.	0.79784|.	0.989;0.984;0.989;0.989;0.989;0.993|.	T|T	0.47381|0.47381	-0.9122|-0.9122	9|5	0.62326|.	D|.	0.03|.	.|.	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	895;921;921;900;921;948|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	H|I	921;948;921;895;900;921;921;921;900|758	.|.	ENSP00000265956:R895H|.	R|V	+|+	2|1	0|0	GAPVD1|GAPVD1	127139576|127139576	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	9.187000|9.187000	0.94912|0.94912	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTC		TCGA-IB-7651-01A-11D-2154-08	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1	0	0	0	9	342	0	89	1	6.291742e-01	8	71	0	89	2		0	0	0	0	0	2	1	9.940641e-01	7	340	0	89	2								-3.531558	1	0	121412	17	44	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.300000	0.140000	0.520000	0.290000	0.318859	0.300000	0	2.100000e-01	4.100000e-01
GAPVD1	26130	broad.mit.edu	37	9	128099772	128099772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099772C>T	ENST00000495955.1	+	17	3069	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1			44					AAATGAAGAGCGAGAACTCCC	0.537000																								0							SO:0001587	stop_gained			ENST00000495955.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.005336|9.005336	0.99033|0.99033	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	5.8|5.8	3.8|3.8	0.43715|0.43715	.|.	.|0.100698	.|0.64402	.|D	.|0.000003	T|.	0.35740|.	0.0942|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37934|.	-0.9684|.	3|.	.|0.06891	.|T	.|0.86	.|.	11.9073|11.9073	0.52719|0.52719	0.5343:0.4657:0.0:0.0|0.5343:0.4657:0.0:0.0	.|.	.|.	.|.	.|.	V|X	763|927;954;927;901;906;927;927;927;906	.|.	.|ENSP00000265956:R901X	A|R	+|+	2|1	0|2	GAPVD1|GAPVD1	127139593|127139593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	1.862000|1.862000	0.39448|0.39448	1.450000|1.450000	0.47717|0.47717	0.655000|0.655000	0.94253|0.94253	GCG|CGA		TCGA-IB-7651-01A-11D-2154-08	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1	1	0	1	52	274	0	80	1	9.999634e-01	4	78	0	80	2		0	0	0	0	0	2	1	1	51	271	0	80	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
GAPVD1	26130	broad.mit.edu	37	9	128104578	128104578	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128104578G>T	ENST00000495955.1	+	19	3336	c.3046G>T	c.(3046-3048)Gat>Tat	p.D1016Y	GAPVD1_ENST00000265956.4_Splice_Site_p.D990Y|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043Y|GAPVD1_ENST00000394104.2_Splice_Site_p.D1016Y|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000297933.6_Splice_Site_p.D1016Y|GAPVD1_ENST00000312123.9_Splice_Site_p.D995Y			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1			44					AACACTCACAGGTTTGTAGAC	0.403000																								0							SO:0001630	splice_region_variant			ENST00000495955.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552272	0.65311	.	.	ENSG00000165219	ENST00000394105;ENST00000394104;ENST00000265956;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	6.07	6.07	0.98685	.	0.089689	0.85682	D	0.000000	T	0.56761	0.2007	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.49559	0.61;0.729;0.729;0.925	B;P;P;P	0.51355	0.372;0.474;0.474;0.667	T	0.48670	-0.9015	9	0.05436	T	0.98	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1016;995;1016;1043	Q14C86;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.	Y	1043;1016;990;1016;1016;995	.	ENSP00000265956:D990Y	D	+	1	0	GAPVD1	127144399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.047000	0.76599	2.885000	0.99019	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1	0	0	0	16	429	0	89	0	7.816845e-01	0	79	0	89	2		0	0	0	0	0	2	1	9.999269e-01	16	422	0	89	2								-2.920853	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.410000	0.240000	0.630000	0.410000	0.429585	0.410000	0	3.200000e-01	5.300000e-01
GAPVD1	26130	broad.mit.edu	37	9	128125011	128125011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128125011G>A	ENST00000495955.1	+	28	4713	c.4423G>A	c.(4423-4425)Gat>Aat	p.D1475N	GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D1430N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1			44					TAAAACCATCGATGACCGAAA	0.463000																								0							SO:0001583	missense			ENST00000495955.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148857	0.78001	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.32	5.32	0.75619	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.48218	1.51	0.80722	D	1	P;P;D;D;D;D	0.57571	0.887;0.943;0.98;0.98;0.98;0.965	P;P;P;P;P;P	0.50082	0.614;0.63;0.61;0.61;0.61;0.61	T	0.08249	-1.0731	10	0.42905	T	0.14	.	18.3413	0.90307	0.0:0.0:1.0:0.0	.	1475;490;1430;1436;1457;1484	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	N	1430;1484;1475;1449;1409;1475;1457;1436;168	ENSP00000419767:D1430N;ENSP00000377665:D1484N;ENSP00000377664:D1475N;ENSP00000265956:D1449N;ENSP00000377645:D1409N;ENSP00000419063:D1475N;ENSP00000297933:D1457N;ENSP00000309582:D1436N	ENSP00000265956:D1449N	D	+	1	0	GAPVD1	127164832	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.325000	0.96381	2.628000	0.89032	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1	1	0	0	53	226	0	47	1	9.999994e-01	5	90	0	47	2		0	0	0	0	0	2	1	1	50	221	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PBX3	5090	broad.mit.edu	37	9	128723010	128723010	+	Silent	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128723010T>A	ENST00000373489.5	+	6	907	c.891T>A	c.(889-891)atT>atA	p.I297I	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Silent_p.I297I|PBX3_ENST00000373487.4_Silent_p.I318I|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000447726.2_Silent_p.I222I	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3			24					AGAAGAACATTGGCAAGTTTC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000373489.5	1	1	hg19	CCDS6865.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1	1	0	1	54	168	0	47	1	9.999998e-01	2	75	0	47	2		0	0	0	0	0	2	1	1	53	165	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PBX3	5090	broad.mit.edu	37	9	128725346	128725346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128725346G>A	ENST00000373489.5	+	8	1194	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.G414E|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3			24					GATGGCCTTGGAGGAAATTCA	0.403000																								0							SO:0001583	missense			ENST00000373489.5	1	1	hg19	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463730	0.63513	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.88201	-2.13;1.94;-2.31;-2.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.38175	1.15	0.80722	D	1	P;B	0.42078	0.77;0.286	B;B	0.41440	0.357;0.104	T	0.80888	-0.1181	10	0.02654	T	1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	414;393	Q5JS98;P40426	.;PBX3_HUMAN	E	393;414;212;318	ENSP00000362588:G393E;ENSP00000362586:G414E;ENSP00000362582:G212E;ENSP00000387456:G318E	ENSP00000362582:G212E	G	+	2	0	PBX3	127765167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.568000	0.82369	2.937000	0.99478	0.650000	0.86243	GGA		TCGA-IB-7651-01A-11D-2154-08	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1	1	0	1	12	96	0	30	0	9.539452e-01	0	45	0	30	2		0	0	0	0	0	2	1	9.992584e-01	12	95	0	30	2								-18.803610	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.690000	1.000000	1.000000	0.966994	0.990000	1	9.300000e-01	1
LMX1B	4010	broad.mit.edu	37	9	129455510	129455510	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129455510C>T	ENST00000373474.4	+	4	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta			15					GAAGGACCCGCGGAGGCCCAA	0.652000									Nail-Patella Syndrome				Pancreas(110;1796 2278 18357 20466)											0							SO:0001583	missense	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	ENST00000373474.4	1	1	hg19	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279243	0.59758	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.96011	-1.12;-1.12;-3.88;-1.12	4.97	-1.69	0.08186	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	L	0.51422	1.61	0.53688	D	0.999971	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.68483	0.881;0.849;0.958	D	0.94502	0.7710	10	0.87932	D	0	.	15.8126	0.78576	0.6922:0.3078:0.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	W	217;217;217;194	ENSP00000436930:R217W;ENSP00000362573:R217W;ENSP00000347684:R217W;ENSP00000390923:R194W	ENSP00000347684:R217W	R	+	1	2	LMX1B	128495331	0.003000	0.15002	0.077000	0.20336	0.916000	0.54674	0.098000	0.15189	-0.133000	0.11537	-1.797000	0.00622	CGG		TCGA-IB-7651-01A-11D-2154-08	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2	1	0	0	7	79	0	21	0	9.193054e-03	0	2	0	21	2		0	0	0	0	0	2	1	9.813275e-01	7	78	0	21	2								-12.013300	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.920000	0.420000	1.000000	1.000000	0.853840	0.920000	1	6.400000e-01	1
LMX1B	4010	broad.mit.edu	37	9	129458638	129458638	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458638C>T	ENST00000373474.4	+	8	1124	c.1117C>T	c.(1117-1119)Ctc>Ttc	p.L373F	LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F|LMX1B_ENST00000355497.5_Missense_Mutation_p.L377F|LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F|LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta			15					CGACTGCTTCCTCGGCTCCTC	0.627000									Nail-Patella Syndrome				Pancreas(110;1796 2278 18357 20466)											0							SO:0001583	missense	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	ENST00000373474.4	1	1	hg19	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750558	0.49257	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.19	4.29	0.51040	.	0.058355	0.64402	D	0.000005	T	0.76962	0.4061	L	0.43923	1.385	0.50039	D	0.999844	P;P;P	0.49307	0.868;0.922;0.919	P;P;P	0.53912	0.494;0.526;0.737	T	0.73474	-0.3971	10	0.31617	T	0.26	.	9.3609	0.38195	0.0:0.8364:0.0:0.1636	.	354;350;366	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	F	366;373;377;343	ENSP00000436930:L366F;ENSP00000362573:L373F;ENSP00000347684:L377F;ENSP00000390923:L343F	ENSP00000347684:L377F	L	+	1	0	LMX1B	128498459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.768000	0.38511	1.183000	0.42943	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2	1	0	1	213	822	0	163	0	4.266182e-02	0	2	0	163	2		0	0	0	0	0	2	1	1	208	810	0	161	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LMX1B	4010	broad.mit.edu	37	9	129458652	129458652	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458652C>T	ENST00000373474.4	+	8	1138	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	LMX1B_ENST00000561065.1_Silent_p.D358D|LMX1B_ENST00000355497.5_Silent_p.D381D|LMX1B_ENST00000526117.1_Silent_p.D370D|LMX1B_ENST00000425646.2_Silent_p.D347D			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta			15					GCTCCTCAGACGTGGGCTCCC	0.637000									Nail-Patella Syndrome				Pancreas(110;1796 2278 18357 20466)											0							SO:0001819	synonymous_variant	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	ENST00000373474.4	1	1	hg19	CCDS55342.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2	0	0	0	35	1024	0	158	1	3.461865e-03	2	1	0	158	2		0	0	0	0	0	2	1	1	35	1008	0	156	2								-3.271795	1	0	121412	4	37	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.370000	0.260000	0.510000	0.380000	0.386193	0.370000	0	3.100000e-01	4.500000e-01
ZBTB34	403341	broad.mit.edu	37	9	129642452	129642452	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129642452C>T	ENST00000373452.2	+	1	826	c.762C>T	c.(760-762)gaC>gaT	p.D254D	ZBTB34_ENST00000319119.4_Silent_p.D258D			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	p.D258D(1)		12					CCCTGGGTGACGATGGGTACC	0.557000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000373452.2	1	1	hg19	CCDS48023.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	74	439	0	124	1	5.792577e-01	3	10	0	124	2		0	0	0	0	0	2	1	1	73	428	0	121	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RALGPS1	9649	broad.mit.edu	37	9	129831557	129831557	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129831557A>C	ENST00000259351.5	+	8	799	c.532A>C	c.(532-534)Atg>Ctg	p.M178L	RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1			19					GGACTACCTGATGTCGAAAGA	0.363000																								0							SO:0001583	missense			ENST00000259351.5	1	1	hg19	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	A	4.633	0.117738	0.08881	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.34	4.2	0.49525	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.246145	0.42682	D	0.000675	T	0.16981	0.0408	N	0.16478	0.41	0.24790	N	0.992763	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.12837	0.008;0.003;0.004;0.005	T	0.16453	-1.0402	10	0.28530	T	0.3	.	7.1063	0.25366	0.6705:0.2538:0.0757:0.0	.	178;178;178;178	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	178;178;178;178;148;178;178	ENSP00000259351:M178L;ENSP00000415630:M178L;ENSP00000377590:M178L;ENSP00000317149:M148L;ENSP00000362535:M178L;ENSP00000362533:M178L	ENSP00000259351:M178L	M	+	1	0	RALGPS1	128871378	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	5.304000	0.65744	0.989000	0.38761	-0.276000	0.10085	ATG		TCGA-IB-7651-01A-11D-2154-08	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	0	0	1	66	242	0	71	1	9.933360e-01	10	21	0	71	2		0	0	0	0	0	2	1	1	65	240	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGPS1	9649	broad.mit.edu	37	9	129958828	129958828	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1			19					ACCTACTGGACGACAGTGTCC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000259351.5	1	1	hg19	CCDS35143.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	1	0	0	80	390	0	120	0	1.390782e-01	1	3	0	120	2		0	0	0	0	0	2	1	1	80	384	0	119	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RALGPS1	9649	broad.mit.edu	37	9	129961313	129961313	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129961313G>A	ENST00000259351.5	+	14	1482	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1			19					AGAGCTCAGAGTTTAGTGAAG	0.597000											OREG0019502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000259351.5	0	1	hg19	CCDS35143.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	0	0	0	15	610	0	114	0	9.597403e-03	0	6	0	114	2		0	0	0	0	0	2	1	9.998467e-01	15	595	0	113	2								-3.253690	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.270000	0.160000	0.430000	0.270000	0.289338	0.270000	0	2.100000e-01	3.600000e-01
RALGPS1	9649	broad.mit.edu	37	9	129975289	129975289	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129975289G>A	ENST00000259351.5	+	17	1780	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1			19					CGATGACCCCGAGCACCCAGA	0.572000																								0							SO:0001583	missense			ENST00000259351.5	1	1	hg19	CCDS35143.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.48	2.547441	0.45383	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434	T;T;T	0.76186	-1.0;-1.0;-1.0	5.46	5.46	0.80206	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.173457	0.49916	D	0.000135	T	0.66386	0.2784	L	0.40543	1.245	0.40964	D	0.984648	B;B;P	0.39576	0.05;0.069;0.679	B;B;B	0.36289	0.013;0.005;0.221	T	0.64643	-0.6359	10	0.15499	T	0.54	.	19.3156	0.94211	0.0:0.0:1.0:0.0	.	463;455;505	E9PBQ5;Q5JS13-2;Q5JS13	.;.;RGPS1_HUMAN	K	505;463;455	ENSP00000259351:E505K;ENSP00000415630:E463K;ENSP00000362533:E455K	ENSP00000259351:E505K	E	+	1	0	RALGPS1	129015110	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.782000	0.68973	2.552000	0.86080	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	1	0	1	38	282	0	63	1	9.025551e-01	11	21	0	63	2		0	0	0	0	0	2	1	1	38	278	0	63	2								-3.017796	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.970000	1.000000	1.000000	0.998035	0.990000	1	9.900000e-01	1
SLC2A8	29988	broad.mit.edu	37	9	130167730	130167730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130167730G>A	ENST00000373371.3	+	9	1271	c.1182G>A	c.(1180-1182)tgG>tgA	p.W394*	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Nonsense_Mutation_p.W131*	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8			11					CCATCCCCTGGCTCCTCATGT	0.627000																								0							SO:0001587	stop_gained			ENST00000373371.3	0	1	hg19	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151307	0.94645	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	.	.	.	5.35	5.35	0.76521	.	0.056509	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1845	0.89789	0.0:0.0:1.0:0.0	.	.	.	.	X	394;231;131;233;259;259;233	.	ENSP00000362448:W259X	W	+	3	0	SLC2A8	129207551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.349000	0.97066	2.674000	0.91012	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	0	0	0	7	304	0	56	1	2.989237e-01	3	40	0	56	2		0	0	0	0	0	2	1	9.809214e-01	7	304	0	54	2								-7.446800	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.260000	0.110000	0.490000	0.250000	0.287067	0.260000	0	1.800000e-01	3.800000e-01
ZNF79	7633	broad.mit.edu	37	9	130206888	130206888	+	Missense_Mutation	SNP	G	G	T	rs148184910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130206888G>T	ENST00000342483.5	+	5	1315	c.909G>T	c.(907-909)aaG>aaT	p.K303N	ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79			28					CCGGAGAGAAGCCCTACGAAT	0.557000																								0							SO:0001583	missense			ENST00000342483.5	1	1	hg19	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975074	0.53720	0.0	2.33E-4	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.26067	1.76;1.76	3.83	-4.36	0.03645	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41627	0.1167	M	0.69463	2.115	0.39429	D	0.967041	D	0.71674	0.998	D	0.68483	0.958	T	0.49224	-0.8962	9	0.87932	D	0	.	11.344	0.49550	0.7632:0.0:0.2368:0.0	.	303	Q15937	ZNF79_HUMAN	N	303;279	ENSP00000362446:K303N;ENSP00000438418:K279N	ENSP00000362446:K303N	K	+	3	2	ZNF79	129246709	0.854000	0.29725	0.516000	0.27786	0.938000	0.57974	-0.018000	0.12568	-1.111000	0.02988	-0.136000	0.14681	AAG		TCGA-IB-7651-01A-11D-2154-08	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	0	0	1	86	419	0	125	1	9.844424e-01	7	27	0	125	2		0	0	0	0	0	2	1	1	81	411	0	123	2								-20.000000	1	1	121412	9	41	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRSAM1	90678	broad.mit.edu	37	9	130230041	130230041	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130230041C>A	ENST00000323301.4	+	9	1155	c.551C>A	c.(550-552)gCc>gAc	p.A184D	LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1			16					GACGCCTCGGCCATGGTCTAC	0.582000																								0							SO:0001583	missense			ENST00000323301.4	1	1	hg19	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	7.081	0.570305	0.13560	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76448	0.7;-1.02;0.7;0.7	5.46	3.43	0.39272	.	0.945370	0.09009	N	0.861813	T	0.70894	0.3276	L	0.36672	1.1	0.31744	N	0.635413	B;B	0.20988	0.05;0.03	B;B	0.29176	0.099;0.022	T	0.65553	-0.6140	10	0.25751	T	0.34	-1.6772	11.3735	0.49713	0.0:0.6447:0.3553:0.0	.	184;184	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	184	ENSP00000300417:A184D;ENSP00000362421:A184D;ENSP00000322937:A184D;ENSP00000362419:A184D	ENSP00000300417:A184D	A	+	2	0	LRSAM1	129269862	0.940000	0.31905	0.781000	0.31783	0.142000	0.21351	1.837000	0.39201	1.252000	0.44001	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	1	0	1	26	66	0	19	1	9.999999e-01	25	54	0	19	2		0	0	0	0	0	2	1	1	26	66	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
LRSAM1	90678	broad.mit.edu	37	9	130251727	130251727	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251727C>T	ENST00000323301.4	+	18	1956	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1			16					TTGCAGAGCGCGATGCAGAAG	0.607000																								0							SO:0001583	missense			ENST00000323301.4	1	1	hg19	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114392	0.06881	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.75704	1.46;-0.96;1.46;1.46	5.62	2.17	0.27698	.	0.420350	0.26761	N	0.022630	T	0.53690	0.1812	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.38607	-0.9653	10	0.30854	T	0.27	-0.1491	7.8298	0.29336	0.3344:0.5757:0.0:0.0899	.	451;451	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	V	451	ENSP00000300417:A451V;ENSP00000362421:A451V;ENSP00000322937:A451V;ENSP00000362419:A451V	ENSP00000300417:A451V	A	+	2	0	LRSAM1	129291548	0.921000	0.31238	0.033000	0.17914	0.218000	0.24690	2.470000	0.45119	0.641000	0.30601	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	1	0	1	10	55	0	22	1	9.995542e-01	25	61	0	22	2		0	0	0	0	0	2	1	9.974440e-01	10	54	0	21	2								-18.439810	1	0	121376	5	35	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.820000	1.000000	1.000000	0.988763	0.990000	1	9.900000e-01	1
LRSAM1	90678	broad.mit.edu	37	9	130251746	130251746	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251746C>T	ENST00000323301.4	+	18	1975	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	LRSAM1_ENST00000373324.4_Silent_p.F457F|LRSAM1_ENST00000300417.6_Silent_p.F457F|LRSAM1_ENST00000373322.1_Silent_p.F457F|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	p.F457F(1)		16					AGGCTGCGTTCGAGGCACTCC	0.612000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000323301.4	1	1	hg19	CCDS6873.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	1	0	1	12	69	0	25	1	9.997609e-01	29	65	0	25	2		0	0	0	0	0	2	1	9.993134e-01	11	69	0	25	2								-19.929590	1	0	121376	2	26	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.860000	1.000000	1.000000	0.991640	0.990000	1	9.900000e-01	1
FAM129B	64855	broad.mit.edu	37	9	130269379	130269379	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269379C>T	ENST00000373312.3	-	14	2199	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Silent_p.R649R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B			25					GGCTCTCAGGCCGCAGACCTT	0.726000																								0							SO:0001819	synonymous_variant			ENST00000373312.3	0	1	hg19	CCDS35145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	0	9	59	0	10	1	9.999999e-01	124	232	0	10	2		0	0	0	0	0	2	1	9.952879e-01	9	59	0	10	2								-17.085320	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.710000	1.000000	1.000000	0.975510	0.990000	1	9.900000e-01	1
FAM129B	64855	broad.mit.edu	37	9	130269380	130269380	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269380C>T	ENST00000373312.3	-	14	2198	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Missense_Mutation_p.R649Q	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B			25					GCTCTCAGGCCGCAGACCTTG	0.731000																								0							SO:0001583	missense			ENST00000373312.3	0	1	hg19	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.602993	0.13939	0.0	1.18E-4	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.21543	2.0;2.0	5.28	-4.33	0.03677	.	0.904000	0.09700	N	0.767083	T	0.08492	0.0211	N	0.12182	0.205	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42464	-0.9450	10	0.11794	T	0.64	-16.1494	7.4804	0.27402	0.0:0.2635:0.127:0.6095	.	649;662	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	Q	649;312;662	ENSP00000362411:R649Q;ENSP00000362409:R662Q	ENSP00000362409:R662Q	R	-	2	0	FAM129B	129309201	0.000000	0.05858	0.840000	0.33206	0.442000	0.32017	-3.297000	0.00522	-0.511000	0.06514	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	0	9	60	0	10	1	9.999999e-01	126	236	0	10	2		0	0	0	0	0	2	1	9.952718e-01	9	60	0	10	2								-16.922810	1	0	119580	2	28	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.700000	1.000000	1.000000	0.974180	0.990000	1	9.800000e-01	1
FAM129B	64855	broad.mit.edu	37	9	130269465	130269465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269465G>A	ENST00000373312.3	-	14	2113	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B			25					GCCTCAAAGGGCAGCCCCACC	0.687000																								0							SO:0001583	missense			ENST00000373312.3	1	1	hg19	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237203	0.39498	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24538	1.85;1.85	5.25	3.38	0.38709	.	0.053669	0.85682	N	0.000000	T	0.32194	0.0821	L	0.34521	1.04	0.40266	D	0.978236	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.12016	-1.0564	10	0.40728	T	0.16	-27.8978	4.6178	0.12435	0.1807:0.0:0.644:0.1753	.	621;634	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	S	621;284;634	ENSP00000362411:P621S;ENSP00000362409:P634S	ENSP00000362409:P634S	P	-	1	0	FAM129B	129309286	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	4.216000	0.58540	1.344000	0.45657	-0.291000	0.09656	CCC		TCGA-IB-7651-01A-11D-2154-08	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	1	23	111	0	22	1	1	96	196	0	22	2		0	0	0	0	0	2	1	9.999997e-01	23	111	0	21	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999727	0.990000	1	9.900000e-01	1
FAM129B	64855	broad.mit.edu	37	9	130270389	130270389	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270389C>T	ENST00000373312.3	-	12	1738	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B			25					CAGGTAGGGGCCAGCTTCTTG	0.622000																								0							SO:0001583	missense			ENST00000373312.3	1	1	hg19	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092529	0.76756	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.26660	1.72;1.72	4.93	4.93	0.64822	.	0.353689	0.32134	N	0.006534	T	0.34019	0.0883	M	0.71036	2.16	0.45567	D	0.998511	D;P;P	0.53462	0.96;0.921;0.921	B;P;P	0.44772	0.384;0.46;0.46	T	0.21381	-1.0247	10	0.42905	T	0.14	-32.6963	15.6228	0.76820	0.0:1.0:0.0:0.0	.	159;496;509	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	T	496;159;509	ENSP00000362411:A496T;ENSP00000362409:A509T	ENSP00000362409:A509T	A	-	1	0	FAM129B	129310210	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.837000	0.27558	2.266000	0.75297	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	1	75	426	0	122	1	1	241	596	0	122	2		0	0	0	0	0	2	1	1	74	419	0	120	2								-3.319702	1	0	121410	1	32	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM129B	64855	broad.mit.edu	37	9	130270429	130270429	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270429C>T	ENST00000373312.3	-	12	1698	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.A482A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B			25					TCTGCAGCAGCGCCTCCCGGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000373312.3	1	1	hg19	CCDS35145.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	1	0	1	60	372	0	84	1	1	178	663	0	84	2		0	0	0	0	0	2	1	1	57	368	0	83	2								-20.000000	1	0	121412	33	45	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
STXBP1	6812	broad.mit.edu	37	9	130425503	130425503	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425503C>T	ENST00000373299.1	+	7	564	c.449C>T	c.(448-450)gCt>gTt	p.A150V	STXBP1_ENST00000373302.3_Missense_Mutation_p.A150V	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1			23					TTGGACTCTGCTGACTCTTTC	0.478000																								0							SO:0001583	missense			ENST00000373299.1	1	1	hg19	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038450	0.75617	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.80480	-1.38;-1.38	5.64	5.64	0.86602	.	0.046500	0.85682	D	0.000000	T	0.67468	0.2896	N	0.08118	0	0.51233	D	0.999913	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.64381	-0.6421	10	0.66056	D	0.02	-0.806	17.2139	0.86937	0.0:1.0:0.0:0.0	.	150;150	P61764;P61764-2	STXB1_HUMAN;.	V	104;150;150	ENSP00000362399:A150V;ENSP00000362396:A150V	ENSP00000362396:A150V	A	+	2	0	STXBP1	129465324	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.598000	0.82745	2.661000	0.90470	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	1	0	0	27	688	0	136	1	9.408290e-01	4	118	0	136	2		0	0	0	0	0	2	1	9.999999e-01	26	673	0	134	2								-3.979332	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.430000	0.290000	0.600000	0.430000	0.443306	0.430000	0	3.500000e-01	5.200000e-01
STXBP1	6812	broad.mit.edu	37	9	130425614	130425614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425614C>T	ENST00000373299.1	+	7	675	c.560C>T	c.(559-561)cCg>cTg	p.P187L	STXBP1_ENST00000373302.3_Missense_Mutation_p.P187L	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1			23					AAGGAGTACCCGGCTGTGCGG	0.612000																								0							SO:0001583	missense			ENST00000373299.1	1	1	hg19	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	31	5.105039	0.94245	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	D;D	0.90004	-2.6;-2.6	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97898	1.0301	10	0.87932	D	0	2.0289	17.2139	0.86937	0.0:1.0:0.0:0.0	.	187;187	P61764;P61764-2	STXB1_HUMAN;.	L	141;187;187	ENSP00000362399:P187L;ENSP00000362396:P187L	ENSP00000362396:P187L	P	+	2	0	STXBP1	129465435	1.000000	0.71417	0.963000	0.40424	0.932000	0.56968	7.661000	0.83786	2.661000	0.90470	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	1	0	1	106	442	0	107	1	1	32	84	0	107	2		0	0	0	0	0	2	1	1	103	431	0	107	2								-2.738502	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STXBP1	6812	broad.mit.edu	37	9	130430387	130430387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130430387C>T	ENST00000373299.1	+	10	938	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R275W	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1			23					CGGGGAGGCACGGGTGAAGGA	0.592000																								0							SO:0001583	missense			ENST00000373299.1	1	1	hg19	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897959	0.72639	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80653	-1.4;-1.4	5.95	4.09	0.47781	.	0.051872	0.85682	N	0.000000	D	0.88284	0.6395	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.663	D	0.89115	0.3499	10	0.72032	D	0.01	-24.1287	13.7543	0.62926	0.2788:0.7212:0.0:0.0	.	275;275	P61764;P61764-2	STXB1_HUMAN;.	W	229;275;107;275	ENSP00000362399:R275W;ENSP00000362396:R275W	ENSP00000362396:R275W	R	+	1	2	STXBP1	129470208	0.889000	0.30405	0.703000	0.30354	0.505000	0.33919	1.803000	0.38863	0.834000	0.34852	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	1	0	1	41	217	0	42	1	9.999363e-01	19	61	0	42	2		0	0	0	0	0	2	1	1	40	216	0	41	2								-3.341901	1	1	121412	1	35	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
C9orf117	286207	broad.mit.edu	37	9	130474155	130474155	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130474155C>T	ENST00000373295.2	+	5	952	c.912C>T	c.(910-912)gcC>gcT	p.A304A	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117			6					CCAAGGAGGCCGAGGAGCTGC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000373295.2	1	1	hg19	CCDS43878.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	1	0	1	12	37	0	13	1	3.770259e-01	3	2	0	13	2		0	0	0	0	0	2	1	9.993701e-01	11	36	0	13	2								-11.842790	1	1	120644	1	32	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.998892	0.990000	1	9.900000e-01	1
PTRH1	138428	broad.mit.edu	37	9	130477948	130477948	+	Translation_Start_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477948C>A	ENST00000419060.1	-	0	1427				PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_5'Flank|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000423807.1_De_novo_Start_OutOfFrame|TTC16_ENST00000373289.3_5'Flank|PTRH1_ENST00000543175.1_5'Flank|C9orf117_ENST00000464092.1_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)			1					ACACCGCCCCCTGACGTCATC	0.647000																								0											ENST00000419060.1	0	1	hg19	CCDS35147.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	0	0	0	18	81	0	11	0	1.659252e-01	0	4	0	11	2		0	0	0	0	0	2	1	9.999875e-01	18	78	0	10	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999365	0.990000	1	9.900000e-01	1
PTRH1	138428	broad.mit.edu	37	9	130477960	130477960	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477960C>T	ENST00000419060.1	-	0	1415				PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000393748.4_5'Flank|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000423807.1_De_novo_Start_InFrame|TTC16_ENST00000373289.3_5'Flank|PTRH1_ENST00000543175.1_5'Flank|C9orf117_ENST00000464092.1_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)			1					GACGTCATCACCCCGCAGCAG	0.667000																								0											ENST00000419060.1	0	1	hg19	CCDS35147.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	0	0	0	16	74	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.999539e-01	16	72	0	9	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.998759	0.990000	1	9.900000e-01	1
TTC16	158248	broad.mit.edu	37	9	130479252	130479252	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130479252C>A	ENST00000373289.3	+	2	228	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000543175.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16			22					TGATGTAAAACCAAAGGTCAC	0.532000																								0							SO:0001583	missense			ENST00000373289.3	1	1	hg19	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880479	0.33255	.	.	ENSG00000167094	ENST00000373289	T	0.16324	2.35	3.8	1.89	0.25635	.	0.956369	0.08540	N	0.930685	T	0.24851	0.0603	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.922	T	0.19712	-1.0297	10	0.35671	T	0.21	-0.42	5.2921	0.15733	0.0:0.6748:0.2087:0.1165	.	50;50	B4DZ42;Q8NEE8	.;TTC16_HUMAN	T	50	ENSP00000362386:P50T	ENSP00000362386:P50T	P	+	1	0	TTC16	129519073	0.033000	0.19621	0.001000	0.08648	0.001000	0.01503	0.491000	0.22419	0.384000	0.24942	-0.502000	0.04539	CCA		TCGA-IB-7651-01A-11D-2154-08	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	1	0	1	54	212	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	54	209	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTC16	158248	broad.mit.edu	37	9	130485513	130485513	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130485513C>T	ENST00000373289.3	+	7	853	c.773C>T	c.(772-774)gCg>gTg	p.A258V	TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16			22					CGCCAAGATGCGGGGATCCTG	0.647000																								0							SO:0001583	missense			ENST00000373289.3	1	1	hg19	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787800	0.49997	.	.	ENSG00000167094	ENST00000373289;ENST00000393748;ENST00000316259	T;T	0.64991	2.18;-0.13	4.99	4.99	0.66335	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	M	0.76328	2.33	0.20975	N	0.999814	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.70313	-0.4906	10	0.72032	D	0.01	-27.8116	13.6986	0.62595	0.0:1.0:0.0:0.0	.	245;210;258	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	V	258;82;203	ENSP00000362386:A258V;ENSP00000377349:A82V	ENSP00000319048:A203V	A	+	2	0	TTC16	129525334	0.957000	0.32711	0.133000	0.22050	0.022000	0.10575	2.502000	0.45398	2.619000	0.88677	0.456000	0.33151	GCG		TCGA-IB-7651-01A-11D-2154-08	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	1	0	1	44	235	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	41	235	0	70	2								-3.336503	1	1	121300	2	36	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
SH2D3C	10044	broad.mit.edu	37	9	130501057	130501057	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130501057G>T	ENST00000314830.8	-	12	2664	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C			28					GCAGGTTCCAGCTTGTGGGAC	0.637000																								0							SO:0001583	missense			ENST00000314830.8	1	1	hg19	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119480	0.77323	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.36520	2.13;2.15;1.83;2.14;1.25;2.02	5.76	2.77	0.32553	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.065135	0.64402	D	0.000005	T	0.45478	0.1344	M	0.79926	2.475	0.58432	D	0.999996	P;P;P;B;P	0.46142	0.554;0.873;0.81;0.301;0.856	B;P;B;B;P	0.48141	0.262;0.549;0.187;0.243;0.568	T	0.46789	-0.9166	10	0.72032	D	0.01	-15.1161	7.9297	0.29895	0.1462:0.133:0.7208:0.0	.	691;851;783;694;693	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	M	694;693;783;691;497;851	ENSP00000362374:L694M;ENSP00000388536:L693M;ENSP00000362373:L783M;ENSP00000362371:L691M;ENSP00000394632:L497M;ENSP00000317817:L851M	ENSP00000317817:L851M	L	-	1	2	SH2D3C	129540878	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.820000	0.62671	0.772000	0.33382	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	1	0	1	12	45	0	13	0	9.974942e-01	1	43	0	13	2		0	0	0	0	0	2	1	9.994023e-01	12	44	0	13	2								-19.999610	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.998109	0.990000	1	9.900000e-01	1
SH2D3C	10044	broad.mit.edu	37	9	130511771	130511771	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130511771C>T	ENST00000314830.8	-	5	971	c.858G>A	c.(856-858)gaG>gaA	p.E286E	SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.E126E|SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000373276.3_Silent_p.E218E	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C			28					AGCTCTCCTGCTCAAACAGGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000314830.8	1	1	hg19	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045880	0.19748	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.67	4.58	0.56647	.	.	.	.	.	T	0.69628	0.3132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67624	-0.5623	4	.	.	.	-0.3882	14.6077	0.68493	0.0:0.9177:0.0:0.0823	.	.	.	.	N	123	.	.	S	-	2	0	SH2D3C	129551592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	2.686000	0.91538	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	1	0	1	37	156	0	43	1	9.532609e-01	2	22	0	43	2		0	0	0	0	0	2	1	1	36	153	0	42	2								-19.999060	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SH2D3C	10044	broad.mit.edu	37	9	130536596	130536596	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130536596C>A	ENST00000314830.8	-	2	301	c.188G>T	c.(187-189)aGt>aTt	p.S63I	SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000373277.4_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C			28					GGCTGGGGGACTCTTGGGCAC	0.582000																								0							SO:0001583	missense			ENST00000314830.8	1	1	hg19	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389461	0.82902	.	.	ENSG00000095370	ENST00000314830	T	0.15487	2.42	5.08	5.08	0.68730	.	0.083709	0.51477	D	0.000084	T	0.32346	0.0826	L	0.46157	1.445	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	T	0.01884	-1.1254	10	0.87932	D	0	-0.9201	15.5724	0.76349	0.0:1.0:0.0:0.0	.	63	Q8N5H7	SH2D3_HUMAN	I	63	ENSP00000317817:S63I	ENSP00000317817:S63I	S	-	2	0	SH2D3C	129576417	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.910000	0.63321	2.546000	0.85860	0.561000	0.74099	AGT		TCGA-IB-7651-01A-11D-2154-08	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	0	0	0	12	282	0	71	0	2.070252e-03	0	2	0	71	2		0	0	0	0	0	2	1	9.990559e-01	12	276	0	69	2								-13.482080	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.470000	0.260000	0.760000	0.460000	0.492679	0.470000	0	3.500000e-01	6.200000e-01
CDK9	1025	broad.mit.edu	37	9	130551610	130551610	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130551610C>T	ENST00000373264.4	+	7	1007	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	CDK9_ENST00000373265.2_Missense_Mutation_p.R420C	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	p.R303C(1)		1					CCCTGCCCAGCGCATCGACAG	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373264.4	1	1	hg19	CCDS6879.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127329	0.77549	.	.	ENSG00000136807	ENST00000373265;ENST00000373264	T;T	0.74947	-0.89;-0.89	5.52	4.61	0.57282	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.92468	0.5983	10	0.87932	D	0	-8.2494	8.841	0.35142	0.1461:0.7767:0.0:0.0772	.	303	P50750	CDK9_HUMAN	C	420;303	ENSP00000362362:R420C;ENSP00000362361:R303C	ENSP00000362361:R303C	R	+	1	0	CDK9	129591431	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.550000	0.45811	2.587000	0.87381	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054235.1	1	0	1	86	266	0	75	1	1	54	210	0	75	2		0	0	0	0	0	2	1	1	84	261	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FPGS	2356	broad.mit.edu	37	9	130575653	130575653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575653G>A	ENST00000373247.2	+	15	1584	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373225.3_Missense_Mutation_p.A462T	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase			7				Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CACCTGCAGTGCCAGCTCCCT	0.657000																								0							SO:0001583	missense			ENST00000373247.2	1	1	hg19	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756282	0.03019	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.14266	2.95;2.93;2.52	5.03	-10.1	0.00402	Mur ligase, C-terminal (1);	0.753644	0.12795	N	0.438561	T	0.02571	0.0078	N	0.02158	-0.66	0.34854	D	0.741919	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34601	-0.9822	10	0.02654	T	1	-4.7795	7.9863	0.30213	0.1846:0.0:0.4419:0.3735	.	486;512	Q05932-4;Q05932	.;FOLC_HUMAN	T	512;486;462	ENSP00000362344:A512T;ENSP00000377309:A486T;ENSP00000362322:A462T	ENSP00000362322:A462T	A	+	1	0	FPGS	129615474	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-1.085000	0.03390	-1.977000	0.00994	-0.266000	0.10368	GCC		TCGA-IB-7651-01A-11D-2154-08	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1	1	0	1	106	436	0	107	1	1	110	172	0	107	2		0	0	0	0	0	2	1	1	104	425	0	105	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FPGS	2356	broad.mit.edu	37	9	130575822	130575822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575822C>T	ENST00000373247.2	+	15	1753	c.1703C>T	c.(1702-1704)aCt>aTt	p.T568I	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373225.3_Missense_Mutation_p.T518I	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase			7				Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GTGCTAGTCACTGGCAGCCTG	0.647000																								0							SO:0001583	missense			ENST00000373247.2	1	1	hg19	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939028	0.92526	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.23147	2.22;2.21;1.92	5.33	5.33	0.75918	Mur ligase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77101	-0.2712	10	0.87932	D	0	-15.9135	17.9954	0.89182	0.0:1.0:0.0:0.0	.	542;568	Q05932-4;Q05932	.;FOLC_HUMAN	I	568;542;518	ENSP00000362344:T568I;ENSP00000377309:T542I;ENSP00000362322:T518I	ENSP00000362322:T518I	T	+	2	0	FPGS	129615643	1.000000	0.71417	0.968000	0.41197	0.961000	0.63080	7.355000	0.79434	2.481000	0.83766	0.655000	0.94253	ACT		TCGA-IB-7651-01A-11D-2154-08	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1	1	0	1	60	276	0	87	1	1	61	176	0	87	2		0	0	0	0	0	2	1	1	60	275	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENG	2022	broad.mit.edu	37	9	130581937	130581937	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130581937C>T	ENST00000373203.4	-	10	1675	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	ENG_ENST00000480266.1_Intron|ENG_ENST00000344849.3_Silent_p.A425A|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin			17					TATTGACCACCGCCTGCGGGG	0.607000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia															0							SO:0001819	synonymous_variant	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	ENST00000373203.4	1	1	hg19	CCDS48029.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1	0	0	1	24	63	0	23	0	1	1	1162	0	23	2		0	0	0	0	0	2	1	9.999999e-01	24	59	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ENG	2022	broad.mit.edu	37	9	130587516	130587516	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130587516C>T	ENST00000373203.4	-	6	1210	c.810G>A	c.(808-810)caG>caA	p.Q270Q	ENG_ENST00000480266.1_5'UTR|ENG_ENST00000344849.3_Silent_p.Q270Q|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin			17					TCACCCAGATCTGCATGTTGT	0.602000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia															0							SO:0001819	synonymous_variant	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	ENST00000373203.4	1	1	hg19	CCDS48029.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1	1	0	1	31	162	0	21	0	1	0	552	0	21	2		0	0	0	0	0	2	1	1	31	161	0	20	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999908	0.990000	1	9.900000e-01	1
AK1	203	broad.mit.edu	37	9	130635041	130635041	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130635041G>A	ENST00000373176.1	-	4	287	c.135C>T	c.(133-135)tcC>tcT	p.S45S	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.S45S|AK1_ENST00000223836.10_Silent_p.S61S	NM_000476.2	NP_000467.1			adenylate kinase 1			2					AGCTGACCTCGGACCGCAGGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000373176.1	1	1	hg19	CCDS6881.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1	1	0	1	46	201	0	52	1	1	85	336	0	52	2		0	0	0	0	0	2	1	9.999814e-01	46	192	1	52	16								-3.483522	1	1	121412	14	42	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST6GALNAC6	30815	broad.mit.edu	37	9	130653219	130653219	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130653219C>T	ENST00000373146.1	-	5	580	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6			14					ATCATTCATGCGGATTGTACA	0.612000																								0							SO:0001583	missense			ENST00000373146.1	1	1	hg19	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.455743	0.84209	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.71	4.81	0.61882	.	0.049182	0.85682	D	0.000000	D	0.85557	0.5724	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89003	0.3423	10	0.87932	D	0	-20.5999	13.3597	0.60648	0.0:0.9233:0.0:0.0767	.	100;134	Q969X2-2;Q969X2	.;SIA7F_HUMAN	H	134;100;134;100;134;100	ENSP00000362239:R134H;ENSP00000362234:R100H;ENSP00000362235:R134H;ENSP00000362237:R100H;ENSP00000291839:R134H;ENSP00000405326:R100H	ENSP00000291839:R134H	R	-	2	0	ST6GALNAC6	129693040	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.371000	0.79600	1.424000	0.47217	0.651000	0.88453	CGC		TCGA-IB-7651-01A-11D-2154-08	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	1	0	0	22	239	0	54	1	9.999118e-01	14	152	0	54	2		0	0	0	0	0	2	1	9.999987e-01	21	234	0	54	2								-3.142705	1	1	121412	1	28	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.950000	0.620000	1.000000	1.000000	0.911259	0.950000	1	7.800000e-01	1
ST6GALNAC6	30815	broad.mit.edu	37	9	130656830	130656830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130656830C>T	ENST00000373146.1	-	4	437	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6			14					CAGTGATGCTCCACTTCTTGA	0.592000																								0							SO:0001587	stop_gained			ENST00000373146.1	0	1	hg19	CCDS6882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.412320|5.412320	0.96072|0.96072	.|.	.|.	ENSG00000160408|ENSG00000160408	ENST00000542456|ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T|.	0.47177|.	0.85|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.117745	.|0.64402	.|D	.|0.000007	T|.	0.42200|.	0.1192|.	.|.	.|.	.|.	0.34597|0.34597	D|D	0.716131|0.716131	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.43065|.	-0.9414|.	8|.	0.45353|0.07175	T|T	0.12|0.84	-12.0278|-12.0278	16.0654|16.0654	0.80867|0.80867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	22|.	B4DU80|.	.|.	E|X	22|86;52;86;52;86;52	ENSP00000438109:G22E|.	ENSP00000438109:G22E|ENSP00000291839:W86X	G|W	-|-	2|3	0|0	ST6GALNAC6|ST6GALNAC6	129696651|129696651	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.833000|0.833000	0.47200|0.47200	4.981000|4.981000	0.63819|0.63819	2.390000|2.390000	0.81377|0.81377	0.650000|0.650000	0.86243|0.86243	GGA|TGG		TCGA-IB-7651-01A-11D-2154-08	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	1	0	0	97	504	0	127	1	1	11	256	0	127	2		0	0	0	0	0	2	1	1	95	490	0	125	2								-3.225622	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ST6GALNAC4	27090	broad.mit.edu	37	9	130674853	130674853	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130674853C>T	ENST00000335791.5	-	4	580	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4			7					CTGGTTCATGCGGAACACGCA	0.677000																								0							SO:0001583	missense			ENST00000335791.5	1	1	hg19	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922318	0.92319	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.68624	-0.34;-0.34;-0.34	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88303	0.2951	10	0.87932	D	0	-5.3386	12.9615	0.58462	0.0:0.9221:0.0:0.0779	.	102	Q9H4F1	SIA7D_HUMAN	H	18;102;18;18	ENSP00000336733:R102H;ENSP00000340382:R18H;ENSP00000355130:R18H	ENSP00000336733:R102H	R	-	2	0	ST6GALNAC4	129714674	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.973000	0.63763	2.632000	0.89209	0.462000	0.41574	CGC		TCGA-IB-7651-01A-11D-2154-08	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	1	0	1	53	226	0	29	1	1	33	100	0	29	2		0	0	0	0	0	2	1	1	52	221	0	29	2								-3.415196	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIP5KL1	138429	broad.mit.edu	37	9	130687515	130687515	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130687515C>T	ENST00000388747.4	-	9	832	c.788G>A	c.(787-789)cGc>cAc	p.R263H	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1			8					TTCCATCTGGCGGAGGAACCA	0.637000																								0							SO:0001583	missense			ENST00000388747.4	1	1	hg19	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887242	0.52014	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.31769	1.48;1.48	4.95	2.1	0.27182	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.190282	0.44688	N	0.000436	T	0.29061	0.0722	M	0.71036	2.16	0.40546	D	0.981077	B	0.18741	0.03	B	0.19946	0.027	T	0.08659	-1.0711	10	0.51188	T	0.08	-13.9532	5.5359	0.17011	0.1441:0.6667:0.0:0.1892	.	263	Q5T9C9	PI5L1_HUMAN	H	263;60	ENSP00000373399:R263H;ENSP00000300432:R60H	ENSP00000300432:R60H	R	-	2	0	PIP5KL1	129727336	0.708000	0.27876	0.998000	0.56505	0.982000	0.71751	0.489000	0.22387	0.224000	0.20940	0.491000	0.48974	CGC		TCGA-IB-7651-01A-11D-2154-08	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	1	0	1	42	216	0	64	0	2.593984e-01	0	6	0	64	2		0	0	0	0	0	2	1	1	39	210	0	64	2								-20.000000	1	1	121412	1	28	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
DPM2	8818	broad.mit.edu	37	9	130698902	130698902	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130698902C>T	ENST00000314392.8	-	3	789	c.126G>A	c.(124-126)aaG>aaA	p.K42K	RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|DPM2_ENST00000373110.4_Silent_p.K42K|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit			1					GCAGGAAATACTTGTGGATGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000314392.8	0	1	hg19	CCDS6886.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054324.1	0	0	0	9	416	0	91	1	9.823121e-01	5	320	0	91	2		0	0	0	0	0	2	1	9.936777e-01	9	407	0	89	2								-8.308978	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.250000	0.120000	0.430000	0.240000	0.264369	0.250000	0	1.700000e-01	3.400000e-01
FAM102A	399665	broad.mit.edu	37	9	130707059	130707059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130707059C>T	ENST00000373095.1	-	9	1411	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A			10					GGCTCACCCTCGGTGTTGCTG	0.662000																								0							SO:0001583	missense			ENST00000373095.1	0	1	hg19	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054004	0.93793	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	T;T	0.53206	0.63;0.63	5.85	5.85	0.93711	.	0.097969	0.64402	D	0.000001	T	0.70859	0.3272	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.72304	-0.4333	10	0.62326	D	0.03	.	18.7228	0.91702	0.0:1.0:0.0:0.0	.	346	Q5T9C2	F102A_HUMAN	K	346;204	ENSP00000362187:E346K;ENSP00000362176:E204K	ENSP00000362176:E204K	E	-	1	0	FAM102A	129746880	1.000000	0.71417	0.979000	0.43373	0.381000	0.30169	7.523000	0.81856	2.764000	0.94973	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2	1	0	1	26	141	0	17	1	1	100	209	0	17	2		0	0	0	0	0	2	1	1	26	139	0	17	2								-3.259233	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999653	0.990000	1	9.900000e-01	1
NAIF1	203245	broad.mit.edu	37	9	130828911	130828911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130828911G>A	ENST00000373078.4	-	1	689	c.470C>T	c.(469-471)cCc>cTc	p.P157L	NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1			16					GGTGGCCGAGGGTCCGAGGGC	0.652000																								0							SO:0001583	missense			ENST00000373078.4	0	1	hg19	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043163	0.36085	.	.	ENSG00000171169	ENST00000373078	.	.	.	4.05	4.05	0.47172	.	0.416727	0.25566	N	0.029795	T	0.35508	0.0934	N	0.03608	-0.345	0.46131	D	0.998881	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	9	0.38643	T	0.18	-8.1042	16.4788	0.84152	0.0:0.0:1.0:0.0	.	157	Q69YI7	NAIF1_HUMAN	L	157	.	ENSP00000362170:P157L	P	-	2	0	NAIF1	129868732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.430000	0.90283	2.557000	0.86248	0.561000	0.74099	CCC		TCGA-IB-7651-01A-11D-2154-08	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	0	0	0	12	343	0	63	0	4.107268e-01	1	38	0	63	2		0	0	0	0	0	2	1	9.991084e-01	12	340	0	62	2								-12.439510	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.390000	0.210000	0.630000	0.380000	0.409948	0.390000	0	2.900000e-01	5.200000e-01
NAIF1	203245	broad.mit.edu	37	9	130829277	130829277	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829277A>G	ENST00000373078.4	-	1	323	c.104T>C	c.(103-105)tTc>tCc	p.F35S	NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1			16					CCCGGCGTTGAAGTGGTTCAC	0.627000																								0							SO:0001583	missense			ENST00000373078.4	1	1	hg19	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520958	0.85495	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.70385	-0.4886	9	0.22706	T	0.39	-9.5899	14.2657	0.66116	1.0:0.0:0.0:0.0	.	35	Q69YI7	NAIF1_HUMAN	S	35	.	ENSP00000362170:F35S	F	-	2	0	NAIF1	129869098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.622000	0.90953	1.972000	0.57404	0.460000	0.39030	TTC		TCGA-IB-7651-01A-11D-2154-08	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	1	0	1	151	841	0	164	1	8.499078e-01	2	19	0	164	2		0	0	0	0	0	2	1	1	147	825	0	164	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC25A25	114789	broad.mit.edu	37	9	130865959	130865959	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130865959G>A	ENST00000373064.5	+	5	749		c.e5-1		SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373066.5_Splice_Site|SLC25A25_ENST00000373069.5_Splice_Site	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25			10					TTTCCTCACAGATCTTTGATG	0.607000																								0							SO:0001630	splice_region_variant			ENST00000373064.5	1	1	hg19	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418790	0.83559	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A25	129905780	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	1	0	1	56	281	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	1	55	271	0	69	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIZ1	25792	broad.mit.edu	37	9	130942771	130942771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130942771G>A	ENST00000393608.1	-	7	916	c.714C>T	c.(712-714)atC>atT	p.I238I	CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000541172.1_Silent_p.I137I|CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000538431.1_Silent_p.I238I|CIZ1_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372938.5_Silent_p.I238I	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1			35					TTTCCTTGGCGATGTCCTCTG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000393608.1	1	1	hg19	CCDS6894.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	1	0	1	97	503	0	101	1	1	75	216	0	101	2		0	0	0	0	0	2	1	1	94	492	0	101	2								-20.000000	1	1	121412	2	38	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CIZ1	25792	broad.mit.edu	37	9	130947959	130947959	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130947959G>T	ENST00000393608.1	-	5	657	c.455C>A	c.(454-456)cCc>cAc	p.P152H	CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000538431.1_Missense_Mutation_p.P152H|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1			35					AGTGGCCTGGGGAAAGAACTG	0.612000																								0							SO:0001583	missense			ENST00000393608.1	1	1	hg19	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446937	0.84101	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.33	5.33	0.75918	.	0.000000	0.52532	D	0.000074	D	0.88119	0.6351	L	0.29908	0.895	0.38617	D	0.951046	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.997;0.998;1.0;0.999	D;P;D;D;D;P;D;P	0.91635	0.998;0.885;0.999;0.946;0.926;0.875;0.999;0.885	D	0.89937	0.4070	10	0.87932	D	0	-25.5097	15.8799	0.79195	0.0:0.0:1.0:0.0	.	152;152;152;152;128;152;128;152	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	H	128;152;152;152;128;119;51;152;128;152;152;79;152;152	ENSP00000362045:P128H;ENSP00000377232:P152H;ENSP00000439244:P152H;ENSP00000350169:P152H;ENSP00000320374:P128H;ENSP00000445057:P51H;ENSP00000277465:P152H;ENSP00000362039:P152H;ENSP00000362029:P152H;ENSP00000398011:P79H;ENSP00000321780:P152H;ENSP00000407265:P152H	ENSP00000277465:P152H	P	-	2	0	CIZ1	129987780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.234000	0.65343	2.775000	0.95449	0.655000	0.94253	CCC		TCGA-IB-7651-01A-11D-2154-08	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	1	0	1	47	234	0	61	1	1	37	137	0	61	2		0	0	0	0	0	2	1	1	45	227	0	59	2								-3.359997	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
DNM1	1759	broad.mit.edu	37	9	130984801	130984801	+	Missense_Mutation	SNP	G	G	A	rs148695604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130984801G>A	ENST00000372923.3	+	8	1146	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	DNM1_ENST00000341179.7_Missense_Mutation_p.D352N|DNM1_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000486160.1_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1			32					AGATCAGATCGACACCTACGA	0.602000													GBM(113;146 1575 2722 28670 29921)											0							SO:0001583	missense			ENST00000372923.3	1	1	hg19	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028944	0.93518	2.27E-4	0.0	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	6.03	6.03	0.97812	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	N	0.19112	0.55	0.80722	D	1	D;P;D	0.67145	0.996;0.954;0.996	P;B;P	0.57009	0.767;0.441;0.811	T	0.65784	-0.6084	10	0.21540	T	0.41	-6.6582	20.5596	0.99324	0.0:0.0:1.0:0.0	.	352;352;352	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	N	352;352;352;347;352;352	ENSP00000419225:D352N;ENSP00000345680:D352N;ENSP00000362014:D352N;ENSP00000377219:D352N;ENSP00000420045:D352N	ENSP00000345680:D352N	D	+	1	0	DNM1	130024622	1.000000	0.71417	0.973000	0.42090	0.876000	0.50452	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	0	0	1	72	407	0	99	1	9.967923e-01	5	46	0	99	2		0	0	0	0	0	2	1	1	71	402	0	98	2								-3.320041	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNM1	1759	broad.mit.edu	37	9	131008740	131008740	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131008740T>C	ENST00000372923.3	+	16	1831	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	DNM1_ENST00000341179.7_Missense_Mutation_p.M580T|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T|DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T|DNM1_ENST00000493925.1_3'UTR|MIR199B_ENST00000384849.1_RNA	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1			32					AAGGGCTTTATGTCGAGCAAG	0.557000													GBM(113;146 1575 2722 28670 29921)											0							SO:0001583	missense			ENST00000372923.3	1	1	hg19	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344371	0.61073	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	1.732920	0.02792	N	0.122157	D	0.84790	0.5550	M	0.89214	3.015	0.80722	D	1	B;B	0.22851	0.076;0.034	B;B	0.35073	0.195;0.123	T	0.67397	-0.5681	10	0.49607	T	0.09	-9.659	14.3359	0.66589	0.0:0.0:0.0:1.0	.	580;580	Q05193;Q05193-3	DYN1_HUMAN;.	T	580;580;580;575;580;580;125	ENSP00000419225:M580T;ENSP00000345680:M580T;ENSP00000362014:M580T;ENSP00000377219:M580T;ENSP00000420045:M580T	ENSP00000345680:M580T	M	+	2	0	DNM1	130048561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.728000	0.84847	1.972000	0.57404	0.408000	0.27601	ATG		TCGA-IB-7651-01A-11D-2154-08	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	0	0	1	68	267	0	60	1	9.995790e-01	12	36	0	60	2		0	0	0	0	0	2	1	1	67	264	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GOLGA2	2801	broad.mit.edu	37	9	131022956	131022956	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131022956C>A	ENST00000421699.2	-	17	1477	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.D477Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	p.D477N(1)		34					CCCTCATTGTCTTGCACCTGG	0.682000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000421699.2	1	1	hg19	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	22.0	4.225784	0.79576	.	.	ENSG00000167110	ENST00000421699	T	0.32272	1.46	5.3	4.41	0.53225	.	0.097640	0.64402	D	0.000002	T	0.52677	0.1749	M	0.66506	2.035	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.56469	-0.7974	10	0.72032	D	0.01	.	13.5747	0.61866	0.0:0.9252:0.0:0.0748	.	489	Q08379	GOGA2_HUMAN	Y	489	ENSP00000416097:D489Y	ENSP00000416097:D489Y	D	-	1	0	GOLGA2	130062777	1.000000	0.71417	0.162000	0.22713	0.972000	0.66771	5.748000	0.68697	1.238000	0.43771	0.305000	0.20034	GAC		TCGA-IB-7651-01A-11D-2154-08	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	1	0	1	113	434	0	80	1	1	43	149	0	80	2		0	0	0	0	0	2	1	1	112	420	0	76	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRUB2	26995	broad.mit.edu	37	9	131083973	131083973	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131083973C>T	ENST00000372890.4	-	2	479	c.146G>A	c.(145-147)cGt>cAt	p.R49H	COQ4_ENST00000608951.1_5'Flank|COQ4_ENST00000609948.1_5'Flank|TRUB2_ENST00000546104.1_De_novo_Start_OutOfFrame|COQ4_ENST00000300452.3_5'Flank|COQ4_ENST00000372875.3_5'Flank|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2			8					GAAGCGAACACGCTGTTTAGG	0.463000																								0							SO:0001583	missense			ENST00000372890.4	1	0	hg19	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837199	0.50951	.	.	ENSG00000167112	ENST00000372890	T	0.18657	2.2	5.83	2.61	0.31194	Pseudouridine synthase, catalytic domain (1);	0.382772	0.30999	N	0.008460	T	0.10937	0.0267	N	0.21282	0.65	0.80722	D	1	B	0.23490	0.086	B	0.12156	0.007	T	0.15578	-1.0432	10	0.23302	T	0.38	-7.2384	5.728	0.18024	0.0:0.5941:0.0:0.4059	.	49	O95900	TRUB2_HUMAN	H	49	ENSP00000361982:R49H	ENSP00000361982:R49H	R	-	2	0	TRUB2	130123794	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.476000	0.35420	0.798000	0.33994	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	1	0	0	52	214	0	77	1	1	43	90	0	77	2		0	0	0	0	0	2	1	1	50	209	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC27A4	10999	broad.mit.edu	37	9	131107479	131107479	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107479C>T	ENST00000300456.4	+	3	324	c.207C>T	c.(205-207)tgC>tgT	p.C69C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4			13					TGCGACAGTGCCTGCAGGAGC	0.622000													Pancreas(107;1554 2241 10946 12953)											0							SO:0001819	synonymous_variant			ENST00000300456.4	1	1	hg19	CCDS6899.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2	1	0	0	33	208	0	50	1	9.994117e-01	17	58	0	50	2		0	0	0	0	0	2	1	1	32	204	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999522	0.990000	1	9.900000e-01	1
SLC27A4	10999	broad.mit.edu	37	9	131107824	131107824	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107824C>A	ENST00000300456.4	+	3	669	c.552C>A	c.(550-552)gcC>gcA	p.A184A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4			13					GCGAAATGGCCTCAGGTGAGC	0.642000													Pancreas(107;1554 2241 10946 12953)											0							SO:0001819	synonymous_variant			ENST00000300456.4	1	1	hg19	CCDS6899.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2	1	0	1	15	70	0	15	1	9.999778e-01	26	74	0	15	2		0	0	0	0	0	2	1	9.999075e-01	15	68	0	15	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.998312	0.990000	1	9.900000e-01	1
SLC27A4	10999	broad.mit.edu	37	9	131110845	131110845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131110845G>A	ENST00000300456.4	+	4	695	c.578G>A	c.(577-579)aGc>aAc	p.S193N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4			13					GTCCATGCCAGCCTGGACCCC	0.647000													Pancreas(107;1554 2241 10946 12953)											0							SO:0001583	missense			ENST00000300456.4	1	1	hg19	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045492	0.36085	.	.	ENSG00000167114	ENST00000300456	T	0.42131	0.98	5.54	-0.0676	0.13759	AMP-dependent synthetase/ligase (1);	0.545020	0.21401	N	0.075159	T	0.26666	0.0652	L	0.47190	1.495	0.41841	D	0.990121	B	0.06786	0.001	B	0.10450	0.005	T	0.07673	-1.0760	10	0.27785	T	0.31	-22.4619	1.3239	0.02121	0.306:0.223:0.3486:0.1224	.	193	Q6P1M0	S27A4_HUMAN	N	193	ENSP00000300456:S193N	ENSP00000300456:S193N	S	+	2	0	SLC27A4	130150666	0.476000	0.25901	0.556000	0.28293	0.974000	0.67602	0.320000	0.19540	-0.005000	0.14395	-0.367000	0.07326	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2	1	0	1	86	359	0	93	1	9.999998e-01	38	57	0	93	2		0	0	0	0	0	2	1	1	86	354	0	93	2								-3.428585	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CERCAM	51148	broad.mit.edu	37	9	131198036	131198036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131198036G>A	ENST00000372838.4	+	12	2038	c.1640G>A	c.(1639-1641)aGt>aAt	p.S547N	CERCAM_ENST00000372842.1_Missense_Mutation_p.S469N	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule			20					GAGTGGCTCAGTGACACGGAG	0.662000																								0							SO:0001583	missense			ENST00000372838.4	1	1	hg19	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	34	5.337214	0.95758	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.85013	-1.85;-1.93	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93041	0.7785	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94160	0.7413	10	0.87932	D	0	-6.5656	16.9993	0.86377	0.0:0.0:1.0:0.0	.	547	Q5T4B2	GT253_HUMAN	N	469;547;500	ENSP00000361933:S469N;ENSP00000361929:S547N	ENSP00000361929:S547N	S	+	2	0	CERCAM	130237857	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.664000	0.98607	2.340000	0.79590	0.561000	0.74099	AGT		TCGA-IB-7651-01A-11D-2154-08	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	1	0	1	25	122	0	37	1	1	18	400	0	37	2		0	0	0	0	0	2	1	9.999999e-01	24	120	0	37	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999815	0.990000	1	9.900000e-01	1
ODF2	4957	broad.mit.edu	37	9	131243904	131243904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131243904C>T	ENST00000434106.3	+	9	1252	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ODF2_ENST00000351030.3_Silent_p.L292L|ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000393527.3_Silent_p.L273L|ODF2_ENST00000604420.1_Silent_p.L297L|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372791.3_Silent_p.L278L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000372814.3_Silent_p.L341L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2			37					GCTGAAACGGCTGGCGGAGGC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000434106.3	1	1	hg19	CCDS56588.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	1	0	1	31	215	0	65	1	9.981323e-01	25	45	0	65	2		0	0	0	0	0	2	1	1	31	195	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.998269	0.990000	1	9.900000e-01	1
MPDZ	8777	broad.mit.edu	37	9	13125244	13125244	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13125244G>T	ENST00000319217.7	-	35	5025	c.4778C>A	c.(4777-4779)tCt>tAt	p.S1593Y	MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y|MPDZ_ENST00000541093.1_De_novo_Start_OutOfFrame|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein			61					TGGGGAGCCAGACTGTGGGAC	0.537000																								0							SO:0001583	missense			ENST00000319217.7	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	16.97	3.268140	0.59540	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.17213	2.7;2.67;2.67;2.29;2.6;2.63;2.68;2.72;2.7;2.71	4.93	4.93	0.64822	.	0.369947	0.19770	N	0.106464	T	0.28300	0.0699	L	0.38175	1.15	0.80722	D	1	P;B;B;P;D;P;B	0.61697	0.828;0.008;0.356;0.892;0.99;0.892;0.228	P;B;B;P;P;P;B	0.56700	0.521;0.023;0.187;0.714;0.804;0.714;0.181	T	0.00964	-1.1498	10	0.42905	T	0.14	.	18.3346	0.90283	0.0:0.0:1.0:0.0	.	1560;452;298;1560;1473;1593;1593	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	Y	1593;1593;1593;162;529;452;1560;1560;1593;1473;1607	ENSP00000320006:S1593Y;ENSP00000439807:S1593Y;ENSP00000370410:S1593Y;ENSP00000415964:S162Y;ENSP00000444230:S529Y;ENSP00000444717:S452Y;ENSP00000444151:S1560Y;ENSP00000415208:S1560Y;ENSP00000370403:S1593Y;ENSP00000446358:S1607Y	ENSP00000320006:S1593Y	S	-	2	0	MPDZ	13115244	0.391000	0.25221	0.007000	0.13788	0.398000	0.30690	4.342000	0.59341	2.564000	0.86499	0.650000	0.86243	TCT		TCGA-IB-7651-01A-11D-2154-08	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	1	0	1	74	368	0	99	1	9.928681e-01	2	38	0	99	2		0	0	0	0	0	2	1	1	72	359	0	95	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ODF2	4957	broad.mit.edu	37	9	131254790	131254790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131254790G>A	ENST00000434106.3	+	15	1985	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000393527.3_Missense_Mutation_p.G517E|ODF2_ENST00000604420.1_Missense_Mutation_p.G541E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2			37					AACTATGAGGGGATGATTGAC	0.587000																								0							SO:0001583	missense			ENST00000434106.3	1	1	hg19	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274820	0.59649	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.80653	1.07;-1.4;1.07;1.07;1.98;-1.4;1.07;1.07	6.07	6.07	0.98685	.	0.088091	0.85682	D	0.000000	T	0.69124	0.3076	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;B;B	0.28783	0.222;0.016;0.222;0.028;0.139;0.222;0.035;0.028	B;B;B;B;B;B;B;B	0.20955	0.031;0.015;0.031;0.015;0.031;0.031;0.032;0.015	T	0.64037	-0.6501	10	0.18710	T	0.47	-33.0468	13.0706	0.59059	0.0756:0.0:0.9244:0.0	.	522;536;460;475;541;522;541;517	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	E	541;585;536;541;517;460;522;522	ENSP00000377166:G541E;ENSP00000361901:G585E;ENSP00000342581:G536E;ENSP00000361882:G541E;ENSP00000307781:G517E;ENSP00000396687:G460E;ENSP00000437579:G522E;ENSP00000361877:G522E	ENSP00000307781:G517E	G	+	2	0	ODF2	130294611	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.112000	0.50368	2.884000	0.98904	0.655000	0.94253	GGG		TCGA-IB-7651-01A-11D-2154-08	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	1	0	1	36	184	0	60	1	9.999209e-01	14	63	0	60	2		0	0	0	0	0	2	1	1	34	180	0	60	2								-3.265453	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
ODF2	4957	broad.mit.edu	37	9	131262527	131262527	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131262527C>A	ENST00000434106.3	+	21	2846	c.2483C>A	c.(2482-2484)cCt>cAt	p.P828H	ODF2_ENST00000351030.3_Missense_Mutation_p.P823H|ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000393527.3_Missense_Mutation_p.P804H|ODF2_ENST00000604420.1_Missense_Mutation_p.P828H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2			37					CGATCTCCTCCTGCCTGAGGC	0.552000																								0							SO:0001583	missense			ENST00000434106.3	1	1	hg19	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863291	0.91511	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.32515	1.58;1.45;1.57	5.5	4.6	0.57074	.	0.484236	0.19596	N	0.110515	T	0.31734	0.0806	N	0.14661	0.345	0.80722	D	1	P;D;P;B	0.69078	0.743;0.997;0.743;0.444	B;P;B;B	0.57548	0.432;0.823;0.432;0.432	T	0.16217	-1.0410	10	0.87932	D	0	-10.0449	11.2733	0.49153	0.0:0.9148:0.0:0.0852	.	823;173;828;804	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	H	823;828;804	ENSP00000342581:P823H;ENSP00000361882:P828H;ENSP00000307781:P804H	ENSP00000307781:P804H	P	+	2	0	ODF2	130302348	0.941000	0.31946	0.490000	0.27465	0.702000	0.40608	1.728000	0.38105	1.314000	0.45095	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	0	0	1	82	528	0	132	1	9.991067e-01	14	54	0	132	2		0	0	0	0	0	2	1	1	79	513	0	130	2								-3.221889	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
GLE1	2733	broad.mit.edu	37	9	131277836	131277836	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131277836C>A	ENST00000309971.4	+	3	456	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator			16					CACACAGAATCTATGGTACTT	0.398000																								0							SO:0001583	missense			ENST00000309971.4	1	1	hg19	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482319	0.44147	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.66280	-0.2;0.21	5.29	3.03	0.35002	.	0.591936	0.18162	N	0.149753	T	0.39759	0.1090	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.24882	0.028;0.113	B;B	0.23574	0.021;0.047	T	0.18398	-1.0338	10	0.34782	T	0.22	-0.0107	6.0264	0.19658	0.0:0.6634:0.1937:0.1429	.	117;117	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	Y	117	ENSP00000308622:S117Y;ENSP00000361856:S117Y	ENSP00000308622:S117Y	S	+	2	0	GLE1	130317657	0.000000	0.05858	0.002000	0.10522	0.735000	0.41995	0.530000	0.23036	1.198000	0.43158	0.462000	0.41574	TCT		TCGA-IB-7651-01A-11D-2154-08	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	1	0	1	24	125	0	44	1	9.999763e-01	17	78	0	44	2		0	0	0	0	0	2	1	9.999998e-01	24	121	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999622	0.990000	1	9.900000e-01	1
GLE1	2733	broad.mit.edu	37	9	131298700	131298700	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131298700A>G	ENST00000309971.4	+	12	1819	c.1713A>G	c.(1711-1713)tcA>tcG	p.S571S	GLE1_ENST00000539582.1_Silent_p.S317S|GLE1_ENST00000372770.4_Silent_p.S571S|RP11-216B9.6_ENST00000434999.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator			16					AACGCATGTCAGGGATGATCC	0.468000																								0							SO:0001819	synonymous_variant			ENST00000309971.4	1	1	hg19	CCDS35154.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	0	0	0	10	272	0	46	1	8.483904e-01	2	92	0	46	2		0	0	0	0	0	2	1	9.960054e-01	10	256	0	46	2								-3.854573	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.410000	0.210000	0.690000	0.390000	0.434160	0.410000	0	3.000000e-01	5.500000e-01
SPTAN1	6709	broad.mit.edu	37	9	131329137	131329137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131329137C>T	ENST00000372731.4	+	2	228	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	SPTAN1_ENST00000358161.5_Silent_p.L40L|SPTAN1_ENST00000372739.3_Silent_p.L40L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1			87					GCGTCAGAAGCTGGAAGATTC	0.468000													NSCLC(120;833 1744 2558 35612 37579)											0							SO:0001819	synonymous_variant			ENST00000372731.4	0	1	hg19	CCDS6905.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	0	0	0	10	501	0	93	1	8.320662e-01	4	161	0	93	2		0	0	0	0	0	2	1	9.966801e-01	10	493	0	92	2								-3.187739	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.220000	0.110000	0.390000	0.220000	0.242617	0.220000	0	1.600000e-01	3.100000e-01
SPTAN1	6709	broad.mit.edu	37	9	131365846	131365846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131365846G>A	ENST00000372731.4	+	28	3714	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1202M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1202M	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1			87					GGTTCACACCGTGGCCACCTT	0.488000													NSCLC(120;833 1744 2558 35612 37579)											0							SO:0001583	missense			ENST00000372731.4	1	1	hg19	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680519	0.68042	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.53206	0.63;0.63;0.65	5.83	5.83	0.93111	.	0.113273	0.64402	D	0.000009	T	0.36690	0.0976	N	0.08118	0	0.51767	D	0.999939	P;P;P;P	0.49696	0.898;0.927;0.927;0.88	B;P;P;B	0.44359	0.143;0.447;0.447;0.26	T	0.38802	-0.9644	10	0.52906	T	0.07	.	20.1271	0.97986	0.0:0.0:1.0:0.0	.	1202;1182;1202;1202	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	M	1202;1202;1202;1182	ENSP00000350882:V1202M;ENSP00000361816:V1202M;ENSP00000361824:V1202M	ENSP00000350882:V1202M	V	+	1	0	SPTAN1	130405667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.790000	0.75115	2.758000	0.94735	0.563000	0.77884	GTG		TCGA-IB-7651-01A-11D-2154-08	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	1	0	1	126	611	0	169	1	1	70	244	0	169	2		0	0	0	0	0	2	1	1	121	591	0	168	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTAN1	6709	broad.mit.edu	37	9	131369983	131369983	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131369983G>A	ENST00000372731.4	+	32	4256		c.e32+1		SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372739.3_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1			87					GCGACACCAGGTGGGTGGACC	0.582000													NSCLC(120;833 1744 2558 35612 37579)											0							SO:0001630	splice_region_variant			ENST00000372731.4	0	1	hg19	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382121	0.82792	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6771	0.95939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130409804	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	9.186000	0.94906	2.732000	0.93576	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	1	0	0	24	582	0	113	0	1.755466e-03	0	2	0	113	2		0	0	0	0	0	2	1	9.999996e-01	22	574	0	111	2								-19.995740	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.450000	0.290000	0.640000	0.450000	0.466082	0.450000	0	3.700000e-01	5.500000e-01
WDR34	89891	broad.mit.edu	37	9	131396214	131396214	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131396214C>A	ENST00000372715.2	-	9	1480	c.1420G>T	c.(1420-1422)Gtt>Ttt	p.V474F	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34			9					TTGATCAAAACTGTGGGTTTC	0.517000																								0							SO:0001583	missense			ENST00000372715.2	0	1	hg19	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725911	0.48833	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.42	2.62	0.31277	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.240373	0.42053	D	0.000761	T	0.39860	0.1094	M	0.72479	2.2	0.09310	N	1	B	0.34313	0.448	P	0.46389	0.515	T	0.36672	-0.9738	10	0.62326	D	0.03	-6.2037	5.8772	0.18836	0.0:0.638:0.1376:0.2244	.	474	Q96EX3	WDR34_HUMAN	F	474	ENSP00000361800:V474F	ENSP00000361800:V474F	V	-	1	0	WDR34	130436035	0.926000	0.31397	0.002000	0.10522	0.810000	0.45777	2.322000	0.43814	0.284000	0.22305	-0.291000	0.09656	GTT		TCGA-IB-7651-01A-11D-2154-08	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	0	0	0	10	386	0	71	1	9.999063e-01	13	697	0	71	2		0	0	0	0	0	2	1	9.967224e-01	10	380	0	70	2								-9.845781	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.290000	0.150000	0.500000	0.280000	0.311680	0.290000	0	2.100000e-01	4.000000e-01
WDR34	89891	broad.mit.edu	37	9	131397074	131397074	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397074C>T	ENST00000372715.2	-	7	1168	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34			9					CGCGTGAGGGCTGCCTCTCCA	0.652000																								0							SO:0001583	missense			ENST00000372715.2	0	1	hg19	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059582	0.36373	.	.	ENSG00000119333	ENST00000372715	T	0.28255	1.62	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051625	0.85682	D	0.000000	T	0.37376	0.1001	M	0.74258	2.255	0.58432	D	0.999999	B	0.28998	0.23	B	0.24394	0.053	T	0.27365	-1.0076	10	0.49607	T	0.09	-3.501	17.8239	0.88658	0.0:1.0:0.0:0.0	.	370	Q96EX3	WDR34_HUMAN	T	370	ENSP00000361800:A370T	ENSP00000361800:A370T	A	-	1	0	WDR34	130436895	1.000000	0.71417	0.417000	0.26559	0.179000	0.23085	5.565000	0.67365	2.448000	0.82819	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	1	0	1	7	108	0	22	1	9.999439e-01	96	281	0	22	2		0	0	0	0	0	2	1	9.804896e-01	7	106	0	22	2								-11.470420	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.700000	0.320000	1.000000	1.000000	0.717906	0.700000	0	4.900000e-01	9.800000e-01
WDR34	89891	broad.mit.edu	37	9	131397201	131397201	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397201C>A	ENST00000372715.2	-	7	1042		c.e7-1		WDR34_ENST00000483181.1_Splice_Site	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34			9					CGCGGGGATGCTGTGGAGAAA	0.627000											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant			ENST00000372715.2	1	1	hg19	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520168	0.27211	.	.	ENSG00000119333	ENST00000372715	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8239	0.88658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR34	130437022	1.000000	0.71417	0.969000	0.41365	0.017000	0.09413	4.909000	0.63314	2.448000	0.82819	0.561000	0.74099	.		TCGA-IB-7651-01A-11D-2154-08	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	1	0	1	32	132	0	23	1	9.999997e-01	106	1	0	23	2		0	0	0	0	0	2	1	1	31	128	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
SET	6418	broad.mit.edu	37	9	131455036	131455036	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131455036A>C	ENST00000372692.4	+	4	650	c.409A>C	c.(409-411)Ata>Cta	p.I137L	SET_ENST00000477806.1_3'UTR|SET_ENST00000409104.3_Missense_Mutation_p.I115L|SET_ENST00000372688.4_Missense_Mutation_p.I113L|SET_ENST00000322030.8_Missense_Mutation_p.I124L	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene			5		Myeloproliferative disorder(178;0.204)			AGGTTACAGAATAGATTTTGT	0.363000			T	NUP214	AML										Dom	yes		9	9q34	6418	SET translocation		L	0							SO:0001583	missense			ENST00000372692.4	1	1	hg19	CCDS48037.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935384	0.92458	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.39514	1.22	0.80722	D	1	B;P;P	0.44195	0.391;0.478;0.828	B;B;P	0.48524	0.432;0.273;0.58	T	0.01068	-1.1462	10	0.87932	D	0	.	14.3996	0.67034	1.0:0.0:0.0:0.0	.	113;124;137	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	L	137;115;124;113;112	ENSP00000361777:I137L;ENSP00000387321:I115L;ENSP00000318012:I124L;ENSP00000361773:I113L;ENSP00000361771:I112L	ENSP00000318012:I124L	I	+	1	0	SET	130494857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.655000	0.91098	1.995000	0.58328	0.454000	0.30748	ATA		TCGA-IB-7651-01A-11D-2154-08	SET-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054476.2	1	0	1	31	185	0	52	1	1	169	565	0	52	2		0	0	0	0	0	2	1	1	31	177	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999646	0.990000	1	9.900000e-01	1
PKN3	29941	broad.mit.edu	37	9	131467678	131467678	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131467678C>T	ENST00000291906.4	+	2	514	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3			24					GGAGAACCTGCGGCGCGTGGC	0.682000																								0							SO:0001583	missense			ENST00000291906.4	1	1	hg19	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116549	0.77323	.	.	ENSG00000160447	ENST00000291906	T	0.19806	2.12	5.18	3.27	0.37495	.	.	.	.	.	T	0.44180	0.1281	M	0.76170	2.325	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.69307	0.95;0.963	T	0.42599	-0.9442	9	0.87932	D	0	.	13.0802	0.59109	0.293:0.707:0.0:0.0	.	41;41	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	W	41	ENSP00000291906:R41W	ENSP00000291906:R41W	R	+	1	2	PKN3	130507499	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	1.467000	0.35321	0.531000	0.28639	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	1	0	1	12	60	0	14	1	5.340104e-01	2	8	0	14	2		0	0	0	0	0	2	1	9.992789e-01	11	59	0	14	2								-19.988630	1	1	119538	7	32	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.920000	1.000000	1.000000	0.995097	0.990000	1	9.900000e-01	1
PKN3	29941	broad.mit.edu	37	9	131482694	131482694	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131482694C>A	ENST00000291906.4	+	22	2872	c.2479C>A	c.(2479-2481)Ctc>Atc	p.L827I	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3			24					GCAAGCCCTGCTCGCCCGCAC	0.667000																								0							SO:0001583	missense			ENST00000291906.4	1	1	hg19	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154543	0.57259	.	.	ENSG00000160447	ENST00000291906	T	0.25912	1.77	4.97	4.97	0.65823	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.43010	0.1228	L	0.60067	1.865	0.42656	D	0.993462	D	0.69078	0.997	D	0.72625	0.978	T	0.29427	-1.0012	9	0.49607	T	0.09	.	9.3747	0.38275	0.0:0.9017:0.0:0.0983	.	827	Q6P5Z2	PKN3_HUMAN	I	827	ENSP00000291906:L827I	ENSP00000291906:L827I	L	+	1	0	PKN3	130522515	0.997000	0.39634	0.994000	0.49952	0.591000	0.36615	1.211000	0.32382	2.297000	0.77311	0.462000	0.41574	CTC		TCGA-IB-7651-01A-11D-2154-08	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	0	0	1	148	834	1	168	1	9.999998e-01	82	100	1	168	6		0	0	0	0	0	2	1	1	143	819	1	166	20								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZER1	10444	broad.mit.edu	37	9	131495800	131495800	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131495800C>A	ENST00000291900.2	-	15	2554	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	RP11-545E17.3_ENST00000443631.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	p.K716K(1)		15					GAGGGCAGTACTTGTCCGCTG	0.567000											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000291900.2	1	1	hg19	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954837	0.73902	.	.	ENSG00000160445	ENST00000291900	T	0.65549	-0.16	5.77	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.72609	-0.4241	10	0.54805	T	0.06	-44.6261	7.6963	0.28596	0.0:0.6569:0.0:0.3431	.	716	Q7Z7L7	ZER1_HUMAN	N	716	ENSP00000291900:K716N	ENSP00000291900:K716N	K	-	3	2	ZER1	130535621	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.446000	0.21694	0.395000	0.25257	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	1	0	1	22	82	0	23	1	1	33	100	0	23	2		0	0	0	0	0	2	1	9.999993e-01	20	81	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
C9orf114	51490	broad.mit.edu	37	9	131591055	131591055	+	Missense_Mutation	SNP	C	C	T	rs138669669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591055C>T	ENST00000361256.5	-	3	207	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114			7					CTCTTCCAGGCGCTTTGCCTG	0.562000																								0							SO:0001583	missense			ENST00000361256.5	1	1	hg19	CCDS6913.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.18	2.756269	0.49362	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.23754	1.89	4.69	-4.72	0.03269	.	0.936047	0.09163	N	0.839890	T	0.16769	0.0403	L	0.43152	1.355	0.22666	N	0.998873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31308	-0.9948	10	0.45353	T	0.12	0.5691	4.5371	0.12038	0.5098:0.1352:0.0:0.355	.	56;56	E7ESY7;Q5T280	.;CI114_HUMAN	H	56	ENSP00000354812:R56H	ENSP00000354812:R56H	R	-	2	0	C9orf114	130630876	0.014000	0.17966	0.699000	0.30290	0.735000	0.41995	-0.488000	0.06497	-0.778000	0.04566	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	1	0	1	127	658	0	151	1	1	40	110	0	151	2		0	0	0	0	0	2	1	1	123	642	0	149	2								-20.000000	1	0	121412	2	42	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf114	51490	broad.mit.edu	37	9	131591124	131591124	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591124T>C	ENST00000361256.5	-	3	138	c.98A>G	c.(97-99)aAa>aGa	p.K33R		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114			7					CTTCCATTTTTTTTTCTCCTC	0.527000																								0							SO:0001583	missense			ENST00000361256.5	1	0	hg19	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651316	0.29336	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.24908	1.83	5.16	5.16	0.70880	.	0.092768	0.64402	D	0.000001	T	0.20292	0.0488	L	0.52126	1.63	0.36410	D	0.86368	P;B	0.42409	0.779;0.289	B;B	0.32149	0.141;0.048	T	0.23440	-1.0188	10	0.18710	T	0.47	-15.4133	14.4699	0.67509	0.0:0.0:0.0:1.0	.	33;33	E7ESY7;Q5T280	.;CI114_HUMAN	R	33	ENSP00000354812:K33R	ENSP00000354812:K33R	K	-	2	0	C9orf114	130630945	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.638000	0.54332	2.068000	0.61886	0.459000	0.35465	AAA		TCGA-IB-7651-01A-11D-2154-08	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	1	0	1	149	659	0	172	1	9.999982e-01	22	61	0	172	2		0	0	0	0	0	2	1	1	147	654	0	167	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCBL1	883	broad.mit.edu	37	9	131598099	131598099	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131598099C>T	ENST00000302586.3	-	9	976	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.V222M|CCBL1_ENST00000436267.2_Missense_Mutation_p.V366M	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic			18				L-Glutamine(DB00130)	TTCTGGTGCACGGTCCGCAGG	0.647000																								0							SO:0001583	missense			ENST00000302586.3	0	0	hg19	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512450	0.64522	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90732	-2.72;-2.72;-2.72	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.114105	0.64402	D	0.000013	D	0.95265	0.8464	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	0.996;0.962;1.0;0.962	P;P;D;P	0.77004	0.685;0.472;0.989;0.472	D	0.95540	0.8611	10	0.66056	D	0.02	-23.6335	17.9232	0.88973	0.0:1.0:0.0:0.0	.	366;272;222;272	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	M	272;222;366	ENSP00000302227:V272M;ENSP00000317342:V222M;ENSP00000399415:V366M	ENSP00000302227:V272M	V	-	1	0	CCBL1	130637920	0.997000	0.39634	0.836000	0.33094	0.925000	0.55904	3.564000	0.53791	2.468000	0.83385	0.436000	0.28706	GTG		TCGA-IB-7651-01A-11D-2154-08	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2	1	0	1	12	142	0	40	1	7.300220e-01	7	25	0	40	2		0	0	0	0	0	2	1	9.992078e-01	12	141	0	40	2								-16.771760	1	1	120966	4	31	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.890000	0.490000	1.000000	1.000000	0.854997	0.890000	1	6.700000e-01	1
LRRC8A	56262	broad.mit.edu	37	9	131669896	131669896	+	Silent	SNP	G	G	A	rs138562691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131669896G>A	ENST00000259324.5	+	3	976	c.453G>A	c.(451-453)tcG>tcA	p.S151S	LRRC8A_ENST00000372600.4_Silent_p.S151S|LRRC8A_ENST00000372599.3_Silent_p.S151S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A			28					GCACCAGCTCGAAGCTGGAGC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000259324.5	1	1	hg19	CCDS35155.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	1	0	1	39	242	0	46	1	1	30	165	0	46	2		0	0	0	0	0	2	1	1	39	238	0	46	2								-20.000000	1	1	121412	2	34	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999826	0.990000	1	9.900000e-01	1
DOLK	22845	broad.mit.edu	37	9	131708326	131708326	+	Silent	SNP	G	G	T	rs138962748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708326G>T	ENST00000372586.3	-	1	1572	c.1257C>A	c.(1255-1257)atC>atA	p.I419I	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase			11					GGATCAGCCAGATGGGAAGAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000372586.3	1	1	hg19	CCDS6915.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	0	0	0	14	386	0	91	1	9.558423e-01	9	138	0	91	2		0	0	0	0	0	2	1	9.996979e-01	14	372	0	90	2								-14.004610	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.400000	0.230000	0.630000	0.390000	0.420851	0.400000	0	3.100000e-01	5.200000e-01
DOLK	22845	broad.mit.edu	37	9	131708616	131708616	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708616A>G	ENST00000372586.3	-	1	1282	c.967T>C	c.(967-969)Tca>Cca	p.S323P	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase			11					TCGGAAGATGACCGCTTGGCA	0.557000																								0							SO:0001583	missense			ENST00000372586.3	1	1	hg19	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625767	0.28889	.	.	ENSG00000175283	ENST00000372586	D	0.84660	-1.88	5.34	2.88	0.33553	.	0.407216	0.22669	N	0.057092	T	0.76176	0.3951	N	0.25485	0.75	0.23406	N	0.997742	B	0.25441	0.126	B	0.28709	0.093	T	0.64833	-0.6314	10	0.48119	T	0.1	-1.0358	10.5923	0.45316	0.6909:0.309:0.0:0.0	.	323	Q9UPQ8	DOLK_HUMAN	P	323	ENSP00000361667:S323P	ENSP00000361667:S323P	S	-	1	0	DOLK	130748437	0.999000	0.42202	0.959000	0.39883	0.970000	0.65996	3.698000	0.54771	0.287000	0.22375	0.379000	0.24179	TCA		TCGA-IB-7651-01A-11D-2154-08	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	1	0	1	241	973	0	242	1	1	35	64	0	242	2		0	0	0	0	0	2	1	1	235	948	0	240	2								-20.000000	1	1	121412	5	38	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOLK	22845	broad.mit.edu	37	9	131709434	131709434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131709434G>A	ENST00000372586.3	-	1	464	c.149C>T	c.(148-150)gCa>gTa	p.A50V	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase			11					GGCCTGCACTGCGAGGGCCAC	0.607000																								0							SO:0001583	missense			ENST00000372586.3	1	1	hg19	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716977	0.68844	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84070	-1.8	5.64	5.64	0.86602	.	0.169585	0.39544	N	0.001340	D	0.85340	0.5674	L	0.51422	1.61	0.58432	D	0.99999	P	0.49961	0.93	P	0.50440	0.641	D	0.86253	0.1650	10	0.62326	D	0.03	-12.3049	18.7019	0.91623	0.0:0.0:1.0:0.0	.	50	Q9UPQ8	DOLK_HUMAN	V	50	ENSP00000361667:A50V	ENSP00000361667:A50V	A	-	2	0	DOLK	130749255	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.601000	0.82783	2.655000	0.90218	0.462000	0.41574	GCA		TCGA-IB-7651-01A-11D-2154-08	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	1	0	1	75	263	0	71	1	9.999736e-01	23	34	0	71	2		0	0	0	0	0	2	1	1	75	259	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP188	23511	broad.mit.edu	37	9	131730896	131730896	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131730896C>T	ENST00000372577.2	+	9	718	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa			60					CAGTGACTTACTTGTATTAAC	0.428000																								0							SO:0001583	missense			ENST00000372577.2	1	1	hg19	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.613707	0.46631	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35048	1.33	5.53	-2.97	0.05530	.	0.193822	0.45867	N	0.000321	T	0.38558	0.1045	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	D	0.67548	0.952	T	0.39035	-0.9633	10	0.33940	T	0.23	-25.4788	11.839	0.52342	0.0:0.5586:0.0:0.4414	.	233	Q5SRE5	NU188_HUMAN	F	122;233	ENSP00000361658:L233F	ENSP00000349125:L122F	L	+	1	0	NUP188	130770717	0.007000	0.16637	0.000000	0.03702	0.644000	0.38419	0.153000	0.16323	-0.855000	0.04125	-0.213000	0.12676	CTT		TCGA-IB-7651-01A-11D-2154-08	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	1	99	445	0	95	1	9.999635e-01	15	53	0	95	2		0	0	0	0	0	2	1	1	96	433	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP188	23511	broad.mit.edu	37	9	131749134	131749134	+	Silent	SNP	C	C	T	rs141269541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131749134C>T	ENST00000372577.2	+	22	2265	c.2244C>T	c.(2242-2244)caC>caT	p.H748H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa			60					ACCTGTGCCACGAGACAGACC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000372577.2	1	1	hg19	CCDS35156.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	1	60	268	0	64	1	9.999981e-01	32	57	0	64	2		0	0	0	0	0	2	1	1	59	264	0	64	2								-3.191829	1	1	121412	6	42	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP188	23511	broad.mit.edu	37	9	131755935	131755935	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755935G>A	ENST00000372577.2	+	27	3000	c.2979G>A	c.(2977-2979)caG>caA	p.Q993Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa			60					CTCTGTGGCAGGATCGGAGGG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000372577.2	1	1	hg19	CCDS35156.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	0	57	230	0	64	1	9.999995e-01	28	63	0	64	2		0	0	0	0	0	2	1	1	57	226	0	62	2								-3.619838	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP188	23511	broad.mit.edu	37	9	131755939	131755939	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755939C>T	ENST00000372577.2	+	27	3004	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa			60					GTGGCAGGATCGGAGGGACAG	0.507000																								0							SO:0001583	missense			ENST00000372577.2	1	1	hg19	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570353	0.86542	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	T	0.62011	-0.6944	10	0.87932	D	0	0.1735	18.8488	0.92218	0.0:1.0:0.0:0.0	.	328;995	E9PET9;Q5SRE5	.;NU188_HUMAN	W	884;995	ENSP00000361658:R995W	ENSP00000349125:R884W	R	+	1	2	NUP188	130795760	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	5.400000	0.66320	2.767000	0.95098	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	0	52	220	0	59	1	9.999973e-01	25	59	0	59	2		0	0	0	0	0	2	1	1	52	215	0	57	2								-2.982741	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP188	23511	broad.mit.edu	37	9	131761996	131761996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131761996G>A	ENST00000372577.2	+	34	3776	c.3755G>A	c.(3754-3756)aGt>aAt	p.S1252N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa			60					ACCCGCCACAGTCTGGCATTA	0.572000																								0							SO:0001583	missense			ENST00000372577.2	1	1	hg19	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197801	0.22037	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32753	1.44	5.28	5.28	0.74379	.	0.249110	0.46145	D	0.000301	T	0.26955	0.0660	L	0.60455	1.87	0.34919	D	0.748258	P;B	0.34462	0.454;0.244	B;B	0.29663	0.105;0.037	T	0.34229	-0.9837	10	0.23302	T	0.38	-29.9441	11.3822	0.49763	0.0831:0.0:0.9169:0.0	.	585;1252	E9PET9;Q5SRE5	.;NU188_HUMAN	N	1141;1252	ENSP00000361658:S1252N	ENSP00000349125:S1141N	S	+	2	0	NUP188	130801817	1.000000	0.71417	0.977000	0.42913	0.531000	0.34715	2.879000	0.48522	2.473000	0.83533	0.563000	0.77884	AGT		TCGA-IB-7651-01A-11D-2154-08	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	1	45	218	0	71	1	9.999992e-01	27	80	0	71	2		0	0	0	0	0	2	1	1	33	174	0	48	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
NUP188	23511	broad.mit.edu	37	9	131763821	131763821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131763821G>A	ENST00000372577.2	+	35	3878	c.3857G>A	c.(3856-3858)gGc>gAc	p.G1286D	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa			60					TGTGTCCTGGGCCTGCACCTG	0.612000																								0							SO:0001583	missense			ENST00000372577.2	1	1	hg19	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180739	0.78677	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.65732	-0.17	5.27	5.27	0.74061	.	0.051262	0.85682	D	0.000000	T	0.69620	0.3131	M	0.65975	2.015	0.54753	D	0.999987	D;P	0.54397	0.966;0.952	P;P	0.49140	0.543;0.601	T	0.74657	-0.3592	10	0.72032	D	0.01	-6.8777	17.8614	0.88783	0.0:0.0:1.0:0.0	.	619;1286	E9PET9;Q5SRE5	.;NU188_HUMAN	D	1175;1286	ENSP00000361658:G1286D	ENSP00000349125:G1175D	G	+	2	0	NUP188	130803642	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.631000	0.74277	2.473000	0.83533	0.313000	0.20887	GGC		TCGA-IB-7651-01A-11D-2154-08	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2	1	0	1	36	247	0	58	1	9.998484e-01	18	75	0	58	2		0	0	0	0	0	2	1	1	36	244	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999097	0.990000	1	9.900000e-01	1
FAM73B	84895	broad.mit.edu	37	9	131830525	131830525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131830525G>A	ENST00000358369.4	+	13	1544	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B			13					CATCCTCATGGACGCCTTCGA	0.642000																								0							SO:0001583	missense			ENST00000358369.4	1	1	hg19	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588139	0.96590	.	.	ENSG00000148343	ENST00000358369	T	0.52295	0.67	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79193	-0.1904	10	0.87932	D	0	-33.4835	17.967	0.89102	0.0:0.0:1.0:0.0	.	504;440	B4DZP8;Q7L4E1	.;FA73B_HUMAN	N	440	ENSP00000351138:D440N	ENSP00000351138:D440N	D	+	1	0	FAM73B	130870346	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.203000	0.95033	2.491000	0.84063	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	1	0	1	60	333	0	90	1	9.201898e-01	5	21	0	90	2		0	0	0	0	0	2	1	1	60	326	0	89	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MPDZ	8777	broad.mit.edu	37	9	13190142	13190142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13190142C>A	ENST00000319217.7	-	16	2372	c.2125G>T	c.(2125-2127)Gga>Tga	p.G709*	MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein			61					AAACCAAGTCCTTTGCTCCCT	0.413000																								0							SO:0001587	stop_gained			ENST00000319217.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	45	11.594559	0.99580	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.83	5.83	0.93111	.	0.000000	0.42821	D	0.000653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7442	0.96245	0.0:1.0:0.0:0.0	.	.	.	.	X	709;709;709;709;709;709;659;709	.	ENSP00000320006:G709X	G	-	1	0	MPDZ	13180142	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	1	0	0	12	119	0	19	0	6.268035e-01	0	22	0	19	2		0	0	0	0	0	2	1	9.991515e-01	12	116	0	19	2								-17.988300	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.570000	1.000000	1.000000	0.917109	0.990000	1	7.700000e-01	1
PPP2R4	5524	broad.mit.edu	37	9	131909734	131909734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131909734G>A	ENST00000337738.1	+	11	1335	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000419582.1_Silent_p.T59T|PPP2R4_ENST00000435132.1_Silent_p.T59T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000355007.3_Silent_p.T279T|PPP2R4_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000347048.4_Silent_p.T102T|PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T|PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000357197.4_Silent_p.T292T	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4			12		Medulloblastoma(224;0.235)			ATCCTGTCACGTCGGGCTAGG	0.637000													Colon(158;2158 2504 4450 20433)											0							SO:0001819	synonymous_variant			ENST00000337738.1	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	7	242	0	55	1	9.991671e-01	18	490	0	55	2		0	0	0	0	0	2	1	9.792944e-01	7	236	0	55	2								-8.172678	1	0	121410	5	37	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.330000	0.140000	0.610000	0.310000	0.356286	0.330000	0	2.200000e-01	4.700000e-01
IER5L	389792	broad.mit.edu	37	9	131940297	131940297	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131940297C>A	ENST00000372491.2	-	1	243	c.35G>T	c.(34-36)aGc>aTc	p.S12I	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like					Ovarian(14;0.0448)|Medulloblastoma(224;0.235)			CAGGGAGATGCTGATCAGGCT	0.667000																								0							SO:0001583	missense			ENST00000372491.2	1	1	hg19	CCDS43888.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103186	0.56183	.	.	ENSG00000188483	ENST00000372491	T	0.18016	2.24	3.73	1.72	0.24424	.	0.224820	0.36101	U	0.002792	T	0.13286	0.0322	L	0.32530	0.975	0.30159	N	0.802383	P	0.45634	0.863	B	0.43783	0.431	T	0.06844	-1.0804	10	0.87932	D	0	-12.8614	6.8164	0.23833	0.0:0.6869:0.1959:0.1172	.	12	Q5T953	IER5L_HUMAN	I	12	ENSP00000361569:S12I	ENSP00000361569:S12I	S	-	2	0	IER5L	130980118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.473000	0.53122	0.779000	0.33543	0.298000	0.19748	AGC		TCGA-IB-7651-01A-11D-2154-08	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2	1	0	0	13	48	0	10	1	9.999351e-01	12	62	0	10	2		0	0	0	0	0	2	1	9.997015e-01	13	47	0	10	2								-19.999990	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.998714	0.990000	1	9.900000e-01	1
MPDZ	8777	broad.mit.edu	37	9	13247772	13247772	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13247772C>T	ENST00000319217.7	-	3	292	c.45G>A	c.(43-45)gaG>gaA	p.E15E	MPDZ_ENST00000536827.1_Silent_p.E15E|MPDZ_ENST00000546205.1_Silent_p.E15E|MPDZ_ENST00000447879.1_Silent_p.E15E|MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein			61					TTTGCAAGCGCTCTGCTGCAT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000319217.7	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	0	0	0	19	1180	0	262	0	3.669787e-02	0	18	0	262	2		0	0	0	0	0	2	1	9.999883e-01	19	1158	0	262	2								-3.076298	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.170000	0.100000	0.270000	0.180000	0.188295	0.170000	0	1.400000e-01	2.300000e-01
C9orf78	51759	broad.mit.edu	37	9	132590482	132590482	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132590482G>T	ENST00000372447.3	-	9	881	c.828C>A	c.(826-828)gaC>gaA	p.D276E	C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78			13		Ovarian(14;0.00556)			CATAATGATAGTCATCAGTTG	0.478000																								0							SO:0001583	missense			ENST00000372447.3	1	1	hg19	CCDS6931.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657856	0.67586	.	.	ENSG00000136819	ENST00000372447	T	0.49139	0.79	5.56	-0.113	0.13568	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.78049	2.395	0.58432	D	0.999995	D	0.67145	0.996	P	0.58210	0.835	T	0.53676	-0.8405	10	0.46703	T	0.11	.	6.1692	0.20408	0.362:0.0:0.5116:0.1265	.	276	Q9NZ63	CI078_HUMAN	E	276	ENSP00000361524:D276E	ENSP00000361524:D276E	D	-	3	2	C9orf78	131630303	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	2.631000	0.46502	0.056000	0.16144	-0.181000	0.13052	GAC		TCGA-IB-7651-01A-11D-2154-08	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	1	0	1	90	491	0	131	1	1	65	212	0	131	2		0	0	0	0	0	2	1	1	89	477	0	131	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
USP20	10868	broad.mit.edu	37	9	132631614	132631614	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132631614G>T	ENST00000315480.4	+	13	1460	c.1302G>T	c.(1300-1302)cgG>cgT	p.R434R	USP20_ENST00000372429.3_Silent_p.R434R|USP20_ENST00000358355.1_Silent_p.R434R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20			11		Ovarian(14;0.00556)			CTGGCAGCCGGAGGCGGAAGG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000315480.4	1	1	hg19	CCDS43892.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2	0	0	0	26	890	0	131	1	5.053173e-01	2	56	0	131	2		0	0	0	0	0	2	1	9.999999e-01	25	874	0	130	2								-2.494736	0	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.320000	0.210000	0.460000	0.320000	0.334475	0.320000	0	2.600000e-01	4.000000e-01
USP20	10868	broad.mit.edu	37	9	132642473	132642473	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132642473G>A	ENST00000315480.4	+	25	2824	c.2666G>A	c.(2665-2667)cGc>cAc	p.R889H	USP20_ENST00000372429.3_Missense_Mutation_p.R889H|USP20_ENST00000358355.1_Missense_Mutation_p.R889H|USP20_ENST00000472108.1_3'UTR			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20			11		Ovarian(14;0.00556)			ATTGCCATCCGCCAGAGTGTG	0.632000																								0							SO:0001583	missense			ENST00000315480.4	1	1	hg19	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070762	0.76301	0.0	1.19E-4	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19394	2.15;2.15;2.15	5.11	5.11	0.69529	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52548	-0.8561	10	0.87932	D	0	.	17.5407	0.87846	0.0:0.0:1.0:0.0	.	889	Q9Y2K6	UBP20_HUMAN	H	889	ENSP00000361506:R889H;ENSP00000313811:R889H;ENSP00000351122:R889H	ENSP00000313811:R889H	R	+	2	0	USP20	131682294	1.000000	0.71417	0.981000	0.43875	0.049000	0.14656	9.351000	0.97073	2.387000	0.81309	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2	1	0	1	45	172	0	32	1	9.998700e-01	9	46	0	32	2		0	0	0	0	0	2	1	1	45	165	0	30	2								-3.576681	1	1	120930	3	34	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR107	57720	broad.mit.edu	37	9	132848734	132848734	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132848734T>C	ENST00000372406.1	+	7	1107	c.600T>C	c.(598-600)aaT>aaC	p.N200N	GPR107_ENST00000372410.3_Silent_p.N200N|GPR107_ENST00000347136.6_Silent_p.N200N	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107			11		Ovarian(14;0.000531)			TTCATAATAATGGTGGGGCAG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000372406.1	1	1	hg19	CCDS48041.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2	1	0	0	89	424	0	94	1	1	43	137	0	94	2		0	0	0	0	0	2	1	1	87	413	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FUBP3	8939	broad.mit.edu	37	9	133501820	133501820	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133501820G>A	ENST00000319725.9	+	12	1120	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3			21					CTGGAGCGTGGGAGCCCCTGG	0.602000											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000319725.9	1	1	hg19	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224625	0.79576	.	.	ENSG00000107164	ENST00000319725	T	0.54675	0.56	5.67	5.67	0.87782	.	0.052210	0.85682	D	0.000000	T	0.63105	0.2483	M	0.71206	2.165	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.54270	0.747;0.747	T	0.62854	-0.6766	10	0.40728	T	0.16	-16.8512	12.112	0.53844	0.0774:0.0:0.9226:0.0	.	349;349	A3KFK8;Q96I24	.;FUBP3_HUMAN	R	349	ENSP00000318177:G349R	ENSP00000318177:G349R	G	+	1	0	FUBP3	132491641	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	8.055000	0.89453	2.677000	0.91161	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1	1	0	1	34	141	0	40	1	1	45	172	0	40	2		0	0	0	0	0	2	1	1	33	138	0	40	2								-3.582343	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
ABL1	25	broad.mit.edu	37	9	133730325	133730325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133730325C>T	ENST00000318560.5	+	3	772	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase			1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GTACCATGGGCCTGTGTCCCG	0.562000			T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL										Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0							SO:0001583	missense			ENST00000318560.5	1	1	hg19	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157772	0.94686	.	.	ENSG00000097007	ENST00000372348;ENST00000318560	D;D	0.87729	-2.29;-2.29	5.67	5.67	0.87782	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	N	0.11201	0.11	0.80722	D	1	P;P	0.39250	0.665;0.665	B;B	0.43478	0.421;0.421	D	0.84783	0.0774	10	0.87932	D	0	.	18.8246	0.92111	0.0:1.0:0.0:0.0	.	131;168	P00519;Q59FK4	ABL1_HUMAN;.	S	150;131	ENSP00000361423:P150S;ENSP00000323315:P131S	ENSP00000323315:P131S	P	+	1	0	ABL1	132720146	1.000000	0.71417	0.914000	0.36105	0.984000	0.73092	7.744000	0.85034	2.677000	0.91161	0.638000	0.83543	CCT		TCGA-IB-7651-01A-11D-2154-08	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	0	17	312	0	75	1	9.450736e-01	3	89	0	75	2		0	0	0	0	0	2	1	9.999629e-01	17	306	0	75	2								-18.845850	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.590000	0.360000	0.890000	0.580000	0.610947	0.590000	0	4.600000e-01	7.400000e-01
ABL1	25	broad.mit.edu	37	9	133755491	133755491	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133755491C>A	ENST00000318560.5	+	9	1841	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase			1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCCTCCTTTGCTGAAATCCAC	0.532000			T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL										Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0							SO:0001583	missense			ENST00000318560.5	1	1	hg19	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400895	0.83120	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.82893	-1.66;-1.66	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.39898	1.24	0.80722	D	1	P;P	0.45672	0.864;0.864	B;B	0.39258	0.295;0.295	T	0.78157	-0.2313	10	0.37606	T	0.19	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	487;524	P00519;Q59FK4	ABL1_HUMAN;.	D	302;506;487	ENSP00000361423:A506D;ENSP00000323315:A487D	ENSP00000323315:A487D	A	+	2	0	ABL1	132745312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.785000	0.95823	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	1	76	406	0	110	1	1	43	138	0	110	2		0	0	0	0	0	2	1	1	76	401	0	109	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABL1	25	broad.mit.edu	37	9	133759474	133759474	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133759474G>C	ENST00000318560.5	+	11	2178	c.1797G>C	c.(1795-1797)ttG>ttC	p.L599F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase			1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGACCAACTTGTTCAGCGCCT	0.597000			T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL										Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0							SO:0001583	missense			ENST00000318560.5	1	1	hg19	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965761	0.02249	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.16457	2.34;2.34	5.47	1.45	0.22620	.	0.069857	0.64402	D	0.000015	T	0.07503	0.0189	N	0.17082	0.46	0.37654	D	0.922527	B;B	0.14012	0.009;0.004	B;B	0.12837	0.008;0.008	T	0.27331	-1.0077	10	0.24483	T	0.36	.	2.1658	0.03836	0.228:0.2177:0.4413:0.1131	.	599;636	P00519;Q59FK4	ABL1_HUMAN;.	F	414;618;599	ENSP00000361423:L618F;ENSP00000323315:L599F	ENSP00000323315:L599F	L	+	3	2	ABL1	132749295	0.999000	0.42202	0.992000	0.48379	0.899000	0.52679	0.652000	0.24888	0.289000	0.22422	-0.258000	0.10820	TTG		TCGA-IB-7651-01A-11D-2154-08	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	0	68	763	0	173	1	9.999869e-01	10	168	0	173	2		0	0	0	0	0	2	1	1	67	751	0	173	2								-16.017070	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.930000	0.730000	1.000000	1.000000	0.920591	0.930000	1	8.200000e-01	1
ABL1	25	broad.mit.edu	37	9	133760702	133760702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760702C>T	ENST00000318560.5	+	11	3406	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase			1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CATATCAACCCGAGTGTCTCT	0.662000			T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL										Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0							SO:0001587	stop_gained			ENST00000318560.5	0	1	hg19	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	43	10.274030	0.99373	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4781	0.61320	0.1667:0.8333:0.0:0.0	.	.	.	.	X	824;1028;1009	.	ENSP00000323315:R1009X	R	+	1	2	ABL1	132750523	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	3.861000	0.56002	2.457000	0.83068	0.555000	0.69702	CGA		TCGA-IB-7651-01A-11D-2154-08	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	1	114	550	0	126	1	1	29	109	0	126	2		0	0	0	0	0	2	1	1	114	538	0	119	2								-2.379854	0	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABL1	25	broad.mit.edu	37	9	133760790	133760790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760790C>T	ENST00000318560.5	+	11	3494	c.3113C>T	c.(3112-3114)gCg>gTg	p.A1038V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase			1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AGCACCGAGGCGCTGTGCCTC	0.622000			T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL										Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0							SO:0001583	missense			ENST00000318560.5	1	1	hg19	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430541	0.62844	2.27E-4	0.0	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.29655	1.56;1.56	5.26	5.26	0.73747	F-actin binding (2);	0.242574	0.42294	D	0.000736	T	0.23532	0.0569	L	0.36672	1.1	0.40595	D	0.981528	P;P	0.49862	0.929;0.929	B;B	0.41271	0.352;0.352	T	0.03750	-1.1007	10	0.14252	T	0.57	.	13.5841	0.61919	0.0:0.8444:0.1556:0.0	.	1038;1075	P00519;Q59FK4	ABL1_HUMAN;.	V	853;1057;1038	ENSP00000361423:A1057V;ENSP00000323315:A1038V	ENSP00000323315:A1038V	A	+	2	0	ABL1	132750611	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.145000	0.50623	2.457000	0.83068	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	1	0	1	83	382	0	85	1	1	14	107	0	85	2		0	0	0	0	0	2	1	1	81	372	0	84	2								-20.000000	1	0	121406	18	43	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FIBCD1	84929	broad.mit.edu	37	9	133779547	133779547	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133779547G>T	ENST00000372338.4	-	7	1532	c.1290C>A	c.(1288-1290)tcC>tcA	p.S430S	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.S430S|FIBCD1_ENST00000372337.2_Silent_p.S272S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1			12	all_hematologic(7;0.0028)				CGTCGGCATAGGAGGCGTGCG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000372338.4	1	1	hg19	CCDS6937.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	1	0	1	132	527	0	125	1	9.999535e-01	29	30	0	125	2		0	0	0	0	0	2	1	1	131	515	0	122	2								-3.543612	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMC3	10319	broad.mit.edu	37	9	133928326	133928326	+	Missense_Mutation	SNP	G	G	A	rs148563273	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928326G>A	ENST00000361069.4	+	11	2046	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3			69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			CTCCGCCTCCGCGTCAGTCCC	0.682000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000361069.4	1	1	hg19	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458196	0.63401	2.27E-4	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.50277	0.75	5.65	-9.09	0.00717	Laminin B type IV (2);	0.604497	0.18674	N	0.134377	T	0.52403	0.1732	M	0.79614	2.46	0.09310	N	1	P	0.39809	0.689	P	0.47573	0.55	T	0.60419	-0.7267	10	0.49607	T	0.09	.	17.3735	0.87385	0.6445:0.0:0.3555:0.0	.	638	Q9Y6N6	LAMC3_HUMAN	H	638	ENSP00000354360:R638H	ENSP00000347156:R638H	R	+	2	0	LAMC3	132918147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.071000	0.03437	-1.933000	0.01052	-2.532000	0.00182	CGC		TCGA-IB-7651-01A-11D-2154-08	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	1	0	1	50	174	0	46	0	9.140333e-01	1	16	0	46	2		0	0	0	0	0	2	1	1	50	170	0	44	2								-20.000000	1	1	121372	11	38	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMC3	10319	broad.mit.edu	37	9	133961019	133961019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133961019C>T	ENST00000361069.4	+	25	4272	c.4139C>T	c.(4138-4140)gCg>gTg	p.A1380V	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	p.A1380V(1)		69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			ACCAAGCAGGCGGAGAGGATG	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000361069.4	1	1	hg19	CCDS6938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.87|14.87	2.663742|2.663742	0.47572|0.47572	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000361069;ENST00000355048|ENST00000355452	T|.	0.38560|.	1.13|.	5.11|5.11	0.869|0.869	0.19096|0.19096	.|.	0.394550|.	0.25750|.	N|.	0.028548|.	T|T	0.52533|0.52533	0.1740|0.1740	M|M	0.74881|0.74881	2.28|2.28	0.26272|0.26272	N|N	0.978417|0.978417	B;P|.	0.41345|.	0.189;0.746|.	B;B|.	0.36504|.	0.017;0.226|.	T|T	0.46789|0.46789	-0.9166|-0.9166	10|5	0.54805|.	T|.	0.06|.	.|.	7.328|7.328	0.26566|0.26566	0.0:0.58:0.0:0.42|0.0:0.58:0.0:0.42	.|.	61;1380|.	Q9UF61;Q9Y6N6|.	.;LAMC3_HUMAN|.	V|W	1380;1392|62	ENSP00000354360:A1380V|.	ENSP00000347156:A1392V|.	A|R	+|+	2|1	0|2	LAMC3|LAMC3	132950840|132950840	0.085000|0.085000	0.21516|0.21516	0.976000|0.976000	0.42696|0.42696	0.820000|0.820000	0.46376|0.46376	0.108000|0.108000	0.15396|0.15396	-0.035000|-0.035000	0.13691|0.13691	-0.224000|-0.224000	0.12420|0.12420	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	1	0	1	44	282	0	66	0	6.224080e-01	0	15	0	66	2		0	0	0	0	0	2	1	1	43	274	0	66	2								-3.222449	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999856	0.990000	1	9.900000e-01	1
NUP214	8021	broad.mit.edu	37	9	134021520	134021520	+	Missense_Mutation	SNP	A	A	G	rs142397246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134021520A>G	ENST00000359428.5	+	13	1918	c.1774A>G	c.(1774-1776)Act>Gct	p.T592A	RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Intron|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa			86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			TTTCAGGTTTACTGCTGCAGC	0.483000			T	DEK, SET, ABL1	AML, T-ALL								Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0							SO:0001583	missense			ENST00000359428.5	1	1	hg19	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.13|11.13	1.547827|1.547827	0.27652|0.27652	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000451030;ENST00000540899;ENST00000438605|ENST00000530863	T;T|.	0.31769|.	1.49;1.48|.	5.29|5.29	-1.79|-1.79	0.07932|0.07932	.|.	.|.	.|.	.|.	.|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.11329|.	0.006;0.002|.	T|T	0.28332|0.28332	-1.0047|-1.0047	9|5	0.30078|.	T|.	0.28|.	.|.	1.5927|1.5927	0.02657|0.02657	0.4304:0.2805:0.166:0.1232|0.4304:0.2805:0.166:0.1232	.|.	185;592|.	Q5JUP9;P35658|.	.;NU214_HUMAN|.	A|C	592;592;185;21|167	ENSP00000352400:T592A;ENSP00000405014:T592A|.	ENSP00000352400:T592A|.	T|Y	+|+	1|2	0|0	NUP214|NUP214	133011341|133011341	0.013000|0.013000	0.17824|0.17824	0.009000|0.009000	0.14445|0.14445	0.129000|0.129000	0.20672|0.20672	0.585000|0.585000	0.23879|0.23879	0.007000|0.007000	0.14760|0.14760	0.402000|0.402000	0.26972|0.26972	ACT|TAC		TCGA-IB-7651-01A-11D-2154-08	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	1	0	0	140	1292	0	265	1	9.576393e-01	7	42	0	265	2		0	0	0	0	0	2	1	1	139	1263	0	263	2								-20.000000	1	1	121412	1	37	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.940000	1.000000	1.000000	0.996764	0.990000	1	9.900000e-01	1
NUP214	8021	broad.mit.edu	37	9	134073818	134073818	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134073818C>A	ENST00000359428.5	+	29	5081	c.4937C>A	c.(4936-4938)gCt>gAt	p.A1646D	NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D|NUP214_ENST00000483497.2_Missense_Mutation_p.A472D|NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D			P35658	NU214_HUMAN	nucleoporin 214kDa			86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			TCCGTCTTTGCTCAGCCTCCT	0.597000			T	DEK, SET, ABL1	AML, T-ALL								Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0							SO:0001583	missense			ENST00000359428.5	1	1	hg19	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057623	0.55325	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.47177	1.45;0.89;0.89;0.89;0.85	5.67	5.67	0.87782	.	0.356872	0.20531	N	0.090505	T	0.32194	0.0821	N	0.08118	0	0.09310	N	0.999999	P;B;P;B;B	0.37276	0.589;0.435;0.589;0.152;0.152	B;B;B;B;B	0.35770	0.21;0.153;0.153;0.051;0.051	T	0.31364	-0.9946	10	0.46703	T	0.11	-6.1278	18.3398	0.90302	0.0:1.0:0.0:0.0	.	472;1075;1240;1636;1646	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	D	1646;1636;1647;1625;1240;1075;472;423;423	ENSP00000352400:A1646D;ENSP00000396576:A1636D;ENSP00000405014:A1647D;ENSP00000436793:A472D;ENSP00000435364:A423D	ENSP00000352400:A1646D	A	+	2	0	NUP214	133063639	0.072000	0.21174	0.897000	0.35233	0.793000	0.44817	1.713000	0.37951	2.661000	0.90470	0.462000	0.41574	GCT		TCGA-IB-7651-01A-11D-2154-08	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	1	0	1	112	472	0	101	1	9.999901e-01	17	54	0	101	2		0	0	0	0	0	2	1	1	109	462	0	100	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP214	8021	broad.mit.edu	37	9	134074085	134074085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134074085C>T	ENST00000359428.5	+	29	5348	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L	NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L|NUP214_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L			P35658	NU214_HUMAN	nucleoporin 214kDa			86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			TTTGGGCAGTCGGCGAGCAGT	0.592000			T	DEK, SET, ABL1	AML, T-ALL								Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0							SO:0001583	missense			ENST00000359428.5	1	1	hg19	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302729	0.23736	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.39592	1.45;1.07;1.07;1.07	5.57	3.73	0.42828	.	0.861453	0.09604	N	0.779888	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.48230	0.769;0.801;0.882;0.668;0.907	B;B;B;B;B	0.33295	0.128;0.09;0.128;0.09;0.161	T	0.04191	-1.0970	10	0.51188	T	0.08	0.0048	6.7765	0.23622	0.0:0.6975:0.1453:0.1572	.	561;1164;1329;1725;1735	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	L	1735;1725;1736;1714;1329;1164;561	ENSP00000352400:S1735L;ENSP00000396576:S1725L;ENSP00000405014:S1736L;ENSP00000436793:S561L	ENSP00000352400:S1735L	S	+	2	0	NUP214	133063906	0.738000	0.28186	0.036000	0.18154	0.094000	0.18550	2.484000	0.45242	0.724000	0.32296	0.462000	0.41574	TCG		TCGA-IB-7651-01A-11D-2154-08	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	1	0	1	80	384	0	92	1	9.999876e-01	23	57	0	92	2		0	0	0	0	0	2	1	1	79	377	0	90	2								-3.254203	1	1	121412	2	32	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP214	8021	broad.mit.edu	37	9	134090667	134090667	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134090667T>C	ENST00000359428.5	+	31	5805	c.5661T>C	c.(5659-5661)agT>agC	p.S1887S	NUP214_ENST00000451030.1_Silent_p.S1888S|NUP214_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000411637.2_Silent_p.S1877S			P35658	NU214_HUMAN	nucleoporin 214kDa			86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			GTTTCTTCAGTGGCCTTGGAG	0.498000			T	DEK, SET, ABL1	AML, T-ALL								Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0							SO:0001819	synonymous_variant			ENST00000359428.5	1	1	hg19	CCDS6940.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	1	0	1	112	372	0	117	1	1	30	77	0	117	2		0	0	0	0	0	2	1	1	110	363	0	113	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NUP214	8021	broad.mit.edu	37	9	134103652	134103652	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134103652C>A	ENST00000359428.5	+	33	6152	c.6008C>A	c.(6007-6009)cCt>cAt	p.P2003H	NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H|NUP214_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H			P35658	NU214_HUMAN	nucleoporin 214kDa			86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			TTTACAAGCCCTCTGGGCTCG	0.637000			T	DEK, SET, ABL1	AML, T-ALL								Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0							SO:0001583	missense			ENST00000359428.5	1	1	hg19	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.844751|2.844751	0.51164|0.51164	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000498010|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	.|T;T;T;T	.|0.60299	.|0.76;0.78;0.77;0.2	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.43919	.|D	.|0.000503	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.994;0.996	T|T	0.69837|0.69837	-0.5037|-0.5037	5|10	.|0.66056	.|D	.|0.02	-22.1057|-22.1057	18.1351|18.1351	0.89616|0.89616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|829;1597;1993;2003	.|B7ZAV2;Q5JUP9;P35658-4;P35658	.|.;.;.;NU214_HUMAN	I|H	31|2003;1993;2004;1982;1597;1432;829	.|ENSP00000352400:P2003H;ENSP00000396576:P1993H;ENSP00000405014:P2004H;ENSP00000436793:P829H	.|ENSP00000352400:P2003H	L|P	+|+	1|2	0|0	NUP214|NUP214	133093473|133093473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.687000|5.687000	0.68219|0.68219	2.531000|2.531000	0.85337|0.85337	0.563000|0.563000	0.77884|0.77884	CTC|CCT		TCGA-IB-7651-01A-11D-2154-08	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	0	0	1	44	266	0	55	1	9.999999e-01	31	127	0	55	2		0	0	0	0	0	2	1	1	43	262	0	54	2								-2.881506	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999940	0.990000	1	9.900000e-01	1
FAM78A	286336	broad.mit.edu	37	9	134151321	134151321	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151321C>A	ENST00000372271.3	-	1	613	c.246G>T	c.(244-246)aaG>aaT	p.K82N		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A			9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			AAGTCTCCTTCTTGGGGATGG	0.637000																								0							SO:0001583	missense			ENST00000372271.3	1	1	hg19	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320578	0.60634	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.426241	0.27673	N	0.018336	T	0.44498	0.1296	N	0.22421	0.69	0.37573	D	0.919492	B	0.21905	0.062	B	0.15870	0.014	T	0.41106	-0.9527	9	0.23891	T	0.37	-26.4836	17.3899	0.87427	0.0:1.0:0.0:0.0	.	82	Q5JUQ0	FA78A_HUMAN	N	82	.	ENSP00000361345:K82N	K	-	3	2	FAM78A	133141142	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.895000	0.39778	2.422000	0.82143	0.561000	0.74099	AAG		TCGA-IB-7651-01A-11D-2154-08	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	1	0	1	46	209	0	53	1	9.958145e-01	3	38	0	53	2		0	0	0	0	0	2	1	1	46	202	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FAM78A	286336	broad.mit.edu	37	9	134151457	134151457	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151457C>T	ENST00000372271.3	-	1	477	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A			9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)			CACCGTGATCCCTTCCCGGAA	0.582000																								0							SO:0001583	missense			ENST00000372271.3	1	1	hg19	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403374	0.83230	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.137041	0.64402	D	0.000004	T	0.34803	0.0910	N	0.08118	0	0.37486	D	0.916183	B	0.25904	0.137	B	0.31191	0.125	T	0.38045	-0.9679	9	0.41790	T	0.15	-26.0808	13.1809	0.59653	0.0:0.8399:0.1601:0.0	.	37	Q5JUQ0	FA78A_HUMAN	E	37	.	ENSP00000361345:G37E	G	-	2	0	FAM78A	133141278	0.992000	0.36948	0.998000	0.56505	0.995000	0.86356	2.985000	0.49362	2.422000	0.82143	0.561000	0.74099	GGG		TCGA-IB-7651-01A-11D-2154-08	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	1	0	1	40	175	0	53	1	9.922199e-01	4	32	0	53	2		0	0	0	0	0	2	1	1	38	171	0	53	2								-20.000000	1	1	121402	1	28	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MED27	9442	broad.mit.edu	37	9	134955158	134955158	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134955158C>T	ENST00000292035.5	-	1	137	c.74G>A	c.(73-75)cGc>cAc	p.R25H	MED27_ENST00000474263.1_Missense_Mutation_p.R25H|MED27_ENST00000357028.2_Missense_Mutation_p.R25H|RP11-32B11.2_ENST00000444872.2_RNA	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27			18		Myeloproliferative disorder(178;0.206)			CACGCTGGAGCGCAGCGCCTG	0.602000													Colon(41;784 923 6932 42329 52483)											0							SO:0001583	missense			ENST00000292035.5	0	1	hg19	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	C	36	5.751356	0.96890	.	.	ENSG00000160563	ENST00000292035;ENST00000372184	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.984;0.964	T	0.81344	-0.0975	9	0.66056	D	0.02	-5.2962	18.591	0.91212	0.0:1.0:0.0:0.0	.	25;25;25	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	H	25	.	ENSP00000292035:R25H	R	-	2	0	MED27	133944979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.538000	0.82048	2.625000	0.88918	0.650000	0.86243	CGC		TCGA-IB-7651-01A-11D-2154-08	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	0	0	0	9	257	0	45	0	3.586040e-01	0	34	0	45	2		0	0	0	0	0	2	1	9.930158e-01	9	244	0	45	2								-10.441900	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.390000	0.190000	0.680000	0.380000	0.417729	0.390000	0	2.800000e-01	5.400000e-01
NTNG2	84628	broad.mit.edu	37	9	135073361	135073361	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073361C>T	ENST00000393229.3	+	3	998	c.222C>T	c.(220-222)ccC>ccT	p.P74P	NTNG2_ENST00000372179.3_Silent_p.P74P|NTNG2_ENST00000393228.4_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					AGGAGAATCCCTACCTATGCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000393229.3	1	1	hg19	CCDS6946.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1	52	190	0	59	0	3.864466e-01	0	6	0	59	2		0	0	0	0	0	2	1	1	51	186	0	58	2								-3.802473	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTNG2	84628	broad.mit.edu	37	9	135073579	135073579	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073579C>T	ENST00000393229.3	+	3	1216	c.440C>T	c.(439-441)aCg>aTg	p.T147M	NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M|NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	p.T147M(1)		29					GGCCGGCCCACGGTCATGGTC	0.642000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000393229.3	1	1	hg19	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118965	0.77323	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;0.94;0.94;-0.97	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.062591	0.64402	D	0.000010	D	0.84424	0.5469	L	0.56769	1.78	0.49299	D	0.999778	D	0.89917	1.0	D	0.91635	0.999	D	0.85845	0.1400	10	0.72032	D	0.01	.	17.7699	0.88489	0.0:1.0:0.0:0.0	.	147	Q96CW9	NTNG2_HUMAN	M	147	ENSP00000376921:T147M;ENSP00000376920:T147M;ENSP00000353888:T147M;ENSP00000361252:T147M	ENSP00000353888:T147M	T	+	2	0	NTNG2	134063400	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.757000	0.62213	2.417000	0.82017	0.561000	0.74099	ACG		TCGA-IB-7651-01A-11D-2154-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1	50	248	0	48	0	6.254453e-01	0	12	0	48	2		0	0	0	0	0	2	1	1	49	243	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
NTNG2	84628	broad.mit.edu	37	9	135073735	135073735	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073735A>G	ENST00000393229.3	+	3	1372	c.596A>G	c.(595-597)tAc>tGc	p.Y199C	NTNG2_ENST00000372179.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000393228.4_Missense_Mutation_p.Y199C|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y199C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					ACCGAGGAGTACTCGCGCTGG	0.667000																								0							SO:0001583	missense			ENST00000393229.3	0	1	hg19	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493026	0.84962	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91811	0.7409	M	0.87097	2.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93209	0.6598	10	0.87932	D	0	.	14.2827	0.66224	1.0:0.0:0.0:0.0	.	199	Q96CW9	NTNG2_HUMAN	C	199	ENSP00000376921:Y199C;ENSP00000376920:Y199C;ENSP00000353888:Y199C;ENSP00000361252:Y199C	ENSP00000353888:Y199C	Y	+	2	0	NTNG2	134063556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.957000	0.56846	0.459000	0.35465	TAC		TCGA-IB-7651-01A-11D-2154-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	0	0	6	244	0	41	0	2.135293e-02	0	8	0	41	2		0	0	0	0	0	2	1	9.637266e-01	6	240	0	40	2								-8.187245	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.290000	0.120000	0.550000	0.270000	0.310546	0.290000	0	1.900000e-01	4.200000e-01
NTNG2	84628	broad.mit.edu	37	9	135073905	135073905	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073905C>T	ENST00000393229.3	+	3	1542	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	NTNG2_ENST00000372179.3_Silent_p.L256L|NTNG2_ENST00000393228.4_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					GCGCATGCGGCTGCTGCGCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000393229.3	1	1	hg19	CCDS6946.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	0	0	22	563	0	104	0	4.646467e-03	0	3	0	104	2		0	0	0	0	0	2	1	9.999985e-01	21	555	0	100	2								-19.631870	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.430000	0.270000	0.620000	0.420000	0.443982	0.430000	0	3.400000e-01	5.300000e-01
NTNG2	84628	broad.mit.edu	37	9	135102389	135102389	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135102389C>T	ENST00000393229.3	+	4	1787	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	NTNG2_ENST00000372179.3_Silent_p.P337P|NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					TGCCGCTGCCCCATGGCTCTC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000393229.3	1	1	hg19	CCDS6946.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	0	14	130	0	27	0	5.728499e-02	0	4	0	27	2		0	0	0	0	0	2	1	9.997728e-01	14	127	0	27	2								-19.844100	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.640000	1.000000	1.000000	0.945891	0.990000	1	8.400000e-01	1
NTNG2	84628	broad.mit.edu	37	9	135105980	135105980	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135105980G>A	ENST00000393229.3	+	5	1828	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D|NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000360670.3_Intron	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					GGTTCCTTTGGCAGTAAGTAC	0.632000																								0							SO:0001583	missense			ENST00000393229.3	0	1	hg19	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635952	0.67130	.	.	ENSG00000196358	ENST00000393229;ENST00000372179	T;T	0.69806	0.84;-0.43	5.07	5.07	0.68467	.	.	.	.	.	T	0.63581	0.2523	M	0.66939	2.045	0.34114	D	0.663338	B	0.31125	0.309	B	0.26770	0.073	T	0.72154	-0.4376	9	0.37606	T	0.19	.	13.9321	0.64003	0.0:0.0:1.0:0.0	.	351	Q96CW9	NTNG2_HUMAN	D	351	ENSP00000376921:G351D;ENSP00000361252:G351D	ENSP00000361252:G351D	G	+	2	0	NTNG2	134095801	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.180000	0.58296	2.353000	0.79882	0.556000	0.70494	GGC		TCGA-IB-7651-01A-11D-2154-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	0	10	58	0	9	0	1.827342e-01	0	5	0	9	2		0	0	0	0	0	2	1	9.972064e-01	10	56	0	9	2								-18.296090	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.800000	1.000000	1.000000	0.986626	0.990000	1	9.900000e-01	1
NTNG2	84628	broad.mit.edu	37	9	135114495	135114495	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135114495C>T	ENST00000393229.3	+	6	1835	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					GCCCAGACTGCGAATGCTACG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000393229.3	1	1	hg19	CCDS6946.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1	53	310	0	78	0	3.925266e-01	0	9	0	78	2		0	0	0	0	0	2	1	1	53	303	0	78	2								-3.223848	1	1	121412	1	29	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
NTNG2	84628	broad.mit.edu	37	9	135117335	135117335	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135117335G>A	ENST00000393229.3	+	8	2206	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y	NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					CGCTGCGCCTGCCCGCGCGGC	0.761000																								0							SO:0001583	missense			ENST00000393229.3	0	1	hg19	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370429	0.82573	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	D;D;D	0.99837	-7.06;-7.06;-7.06	3.5	3.5	0.40072	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99906	0.9955	H	0.99507	4.6	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95924	0.8933	10	0.87932	D	0	.	14.1615	0.65450	0.0:0.0:1.0:0.0	.	477	Q96CW9	NTNG2_HUMAN	Y	477;469;483	ENSP00000376921:C477Y;ENSP00000376920:C469Y;ENSP00000353888:C483Y	ENSP00000353888:C483Y	C	+	2	0	NTNG2	134107156	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	8.688000	0.91260	1.788000	0.52465	0.491000	0.48974	TGC		TCGA-IB-7651-01A-11D-2154-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	0	10	42	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.978324e-01	10	42	0	10	2								-19.729080	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.920000	1.000000	1.000000	0.994956	0.990000	1	9.900000e-01	1
SETX	23064	broad.mit.edu	37	9	135139642	135139642	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135139642T>G	ENST00000224140.5	-	26	8200	c.8018A>C	c.(8017-8019)aAa>aCa	p.K2673T	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.K2702T|SETX_ENST00000393220.1_Missense_Mutation_p.K2640T	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin			97		Myeloproliferative disorder(178;0.204)			AAGCTTTCTTTTCTTGGAACT	0.512000																								0							SO:0001583	missense			ENST00000224140.5	1	1	hg19	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846347	0.71603	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92348	-2.33;-3.02;-2.52;-2.12	5.57	-2.46	0.06461	.	3.800430	0.00819	N	0.001576	D	0.91061	0.7187	L	0.32530	0.975	0.18873	N	0.999981	P;P;P	0.41848	0.763;0.651;0.763	P;B;P	0.47346	0.544;0.15;0.544	T	0.82462	-0.0445	10	0.66056	D	0.02	.	13.8209	0.63320	0.0:0.7622:0.0:0.2378	.	2640;2673;2702	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	T	2673;944;2702;2640	ENSP00000224140:K2673T;ENSP00000409143:K944T;ENSP00000361242:K2702T;ENSP00000376913:K2640T	ENSP00000224140:K2673T	K	-	2	0	SETX	134129463	0.018000	0.18449	0.019000	0.16419	0.254000	0.26022	-0.230000	0.09083	-0.377000	0.07930	0.402000	0.26972	AAA		TCGA-IB-7651-01A-11D-2154-08	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	1	0	1	242	888	0	204	1	1	42	122	0	204	2		0	0	0	0	0	2	1	1	239	863	0	202	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SETX	23064	broad.mit.edu	37	9	135203375	135203375	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203375T>G	ENST00000224140.5	-	10	3792	c.3610A>C	c.(3610-3612)Agg>Cgg	p.R1204R	SETX_ENST00000372169.2_Silent_p.R1204R|SETX_ENST00000393220.1_Silent_p.R1204R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin			97		Myeloproliferative disorder(178;0.204)			GTTGAAGTCCTTCTATCAATA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000224140.5	1	1	hg19	CCDS6947.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	1	0	1	90	406	0	84	1	9.999996e-01	21	76	0	84	2		0	0	0	0	0	2	1	1	89	401	0	84	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SETX	23064	broad.mit.edu	37	9	135203494	135203494	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203494C>T	ENST00000224140.5	-	10	3673	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	SETX_ENST00000372169.2_Missense_Mutation_p.R1164Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin			97		Myeloproliferative disorder(178;0.204)			TTTTTCAGATCGTTTTCTCTT	0.393000																								0							SO:0001583	missense			ENST00000224140.5	1	1	hg19	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477901	0.26511	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86164	-1.98;-2.08;-1.69	5.9	0.463	0.16700	.	2.512000	0.01833	N	0.034818	T	0.75591	0.3870	N	0.19112	0.55	0.21355	N	0.999712	B;B;B	0.24132	0.098;0.033;0.098	B;B;B	0.12837	0.008;0.003;0.008	T	0.60167	-0.7316	10	0.30078	T	0.28	.	1.5037	0.02482	0.1165:0.3087:0.2136:0.3612	.	1164;1164;1164	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	1164	ENSP00000224140:R1164Q;ENSP00000361242:R1164Q;ENSP00000376913:R1164Q	ENSP00000224140:R1164Q	R	-	2	0	SETX	134193315	0.009000	0.17119	0.148000	0.22405	0.702000	0.40608	0.000000	0.12993	0.070000	0.16634	0.650000	0.86243	CGA		TCGA-IB-7651-01A-11D-2154-08	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	1	0	1	86	382	0	69	1	9.999996e-01	18	77	0	69	2		0	0	0	0	0	2	1	1	84	375	0	69	2								-3.319133	1	1	121412	3	39	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTF1	7270	broad.mit.edu	37	9	135277105	135277105	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277105C>T	ENST00000334270.2	-	2	1143	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I			30		Myeloproliferative disorder(178;0.204)			CTTCCACAGTCCCAACCTCAC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000334270.2	1	1	hg19	CCDS6948.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	1	0	1	144	659	0	134	1	9.997274e-01	17	39	0	134	2		0	0	0	0	0	2	1	1	143	645	0	132	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TTF1	7270	broad.mit.edu	37	9	135277186	135277186	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277186G>T	ENST00000334270.2	-	2	1062	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I			30		Myeloproliferative disorder(178;0.204)			CAAATTCCTGGTGATTGGACT	0.507000																								0							SO:0001583	missense			ENST00000334270.2	1	1	hg19	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219808	0.09863	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.09163	3.01	3.1	2.06	0.26882	.	1.752520	0.02938	N	0.140098	T	0.09024	0.0223	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.31752	-0.9932	10	0.15066	T	0.55	.	6.7339	0.23399	0.0:0.0:0.7202:0.2798	.	341	Q15361	TTF1_HUMAN	Q	341	ENSP00000333920:H341Q	ENSP00000245588:H341Q	H	-	3	2	TTF1	134267007	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.228000	0.17814	1.415000	0.47037	0.313000	0.20887	CAC		TCGA-IB-7651-01A-11D-2154-08	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	1	0	1	132	738	0	134	1	9.814805e-01	8	29	0	134	2		0	0	0	0	0	2	1	1	127	716	0	131	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf171	389799	broad.mit.edu	37	9	135374874	135374874	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135374874G>A	ENST00000343036.2	+	4	567	c.519G>A	c.(517-519)gaG>gaA	p.E173E	C9orf171_ENST00000393215.3_Silent_p.E137E|C9orf171_ENST00000393216.2_Silent_p.E137E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171			23					CTGCCCGGGAGAACTTGCTCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000343036.2	1	1	hg19	CCDS6949.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	1	0	1	114	553	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	1	114	539	0	158	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	rs118203683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135778026C>T	ENST00000298552.3	-	18	2578	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q|TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	p.?(1)		65					GAATTCCTCTCGGTCATGCTG	0.527000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		E, O	1	Unknown(1)						SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000298552.3	1	1	hg19	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248469	0.95305	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82167	-1.58;-1.58;-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	N	0.20986	0.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83316	-0.0020	10	0.26408	T	0.33	-10.967	18.4925	0.90853	0.0:1.0:0.0:0.0	.	735;786	B7Z897;Q92574	.;TSC1_HUMAN	Q	786;786;735	ENSP00000298552:R786Q;ENSP00000394524:R786Q;ENSP00000444017:R735Q	ENSP00000298552:R786Q	R	-	2	0	TSC1	134767847	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	4.560000	0.60802	2.607000	0.88179	0.561000	0.74099	CGA		TCGA-IB-7651-01A-11D-2154-08	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1	1	0	1	162	593	0	164	1	9.911607e-01	5	24	0	164	2		0	0	0	0	0	2	1	1	162	585	0	164	2								-3.960313	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GFI1B	8328	broad.mit.edu	37	9	135863798	135863798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135863798C>A	ENST00000339463.3	+	8	1272	c.453C>A	c.(451-453)gaC>gaA	p.D151E	GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E|GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor			21					CCGCCTTGGACTTCAGCCTCC	0.657000																								0							SO:0001583	missense			ENST00000339463.3	1	1	hg19	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914611	0.72983	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.09163	3.15;3.01;3.01;3.15;3.15;3.01	4.97	4.97	0.65823	.	0.055638	0.64402	D	0.000001	T	0.18923	0.0454	L	0.45698	1.435	0.48341	D	0.999639	D;P	0.54772	0.968;0.907	P;P	0.58970	0.849;0.663	T	0.00500	-1.1703	10	0.52906	T	0.07	-38.8123	7.2867	0.26344	0.0:0.8095:0.0:0.1905	.	151;151	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	E	151	ENSP00000361197:D151E;ENSP00000344782:D151E;ENSP00000409546:D151E;ENSP00000446134:D151E;ENSP00000361196:D151E;ENSP00000361195:D151E	ENSP00000344782:D151E	D	+	3	2	GFI1B	134853619	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	2.819000	0.48049	2.276000	0.75962	0.563000	0.77884	GAC		TCGA-IB-7651-01A-11D-2154-08	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	1	0	1	40	200	0	52	0	2.928273e-02	1	1	0	52	2		0	0	0	0	0	2	1	1	38	192	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
GFI1B	8328	broad.mit.edu	37	9	135866287	135866287	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135866287C>T	ENST00000339463.3	+	11	1662	c.843C>T	c.(841-843)tgC>tgT	p.C281C	GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000372122.1_Silent_p.C281C|GFI1B_ENST00000372124.1_Silent_p.C235C|GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000372123.1_Silent_p.C235C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor			21					GCCAGGTGTGCGGAAAGGCCT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000339463.3	0	1	hg19	CCDS6957.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	0	0	0	6	295	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	9.650295e-01	6	294	0	64	2								-3.171994	1	1	121412	7	39	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.240000	0.090000	0.460000	0.220000	0.259310	0.240000	0	1.500000e-01	3.500000e-01
CEL	1056	broad.mit.edu	37	9	135942552	135942552	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135942552C>T	ENST00000372080.4	+	7	880	c.864C>T	c.(862-864)gcC>gcT	p.A288A	CEL_ENST00000351304.7_Silent_p.A285A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase			20					ATCCCCGAGCCCTGACGCTGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000372080.4	0	1	hg19	CCDS43896.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1	1	0	0	14	160	0	23	0	1	0	499	0	23	2		0	0	0	0	0	2	1	9.997360e-01	14	154	0	23	2								-19.236250	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.910000	0.530000	1.000000	1.000000	0.875228	0.910000	1	7.000000e-01	1
RALGDS	5900	broad.mit.edu	37	9	135977147	135977147	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135977147G>T	ENST00000372050.3	-	16	2235	c.2214C>A	c.(2212-2214)ttC>ttA	p.F738L	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L|RALGDS_ENST00000393160.3_Missense_Mutation_p.F683L|RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator			10					CTGATTCCCAGAACTGAGGGA	0.627000			T	CIITA	PMBL, Hodgkin Lymphona, 								Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0							SO:0001583	missense			ENST00000372050.3	0	1	hg19	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070758	0.07228	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.34072	1.89;1.39;1.89;1.85;2.05;1.38;2.31	5.12	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	N	0.20328	0.56	0.51482	D	0.999924	B;B;B;B;B;B;B	0.28605	0.037;0.087;0.217;0.145;0.041;0.087;0.087	B;B;B;B;B;B;B	0.28011	0.024;0.085;0.085;0.048;0.026;0.085;0.085	T	0.08027	-1.0742	10	0.02654	T	1	.	10.0178	0.42024	0.0758:0.1385:0.7857:0.0	.	809;709;726;683;737;726;738	F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;GNDS_HUMAN	L	738;726;683;435;737;809;709;298	ENSP00000361120:F738L;ENSP00000361117:F726L;ENSP00000376867:F683L;ENSP00000376864:F737L;ENSP00000437518:F809L;ENSP00000361132:F709L;ENSP00000391814:F298L	ENSP00000361117:F726L	F	-	3	2	RALGDS	134966968	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	5.214000	0.65236	0.652000	0.30806	0.462000	0.41574	TTC		TCGA-IB-7651-01A-11D-2154-08	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	0	0	0	9	79	0	21	1	9.997443e-01	12	140	0	21	2		0	0	0	0	0	2	1	9.941632e-01	9	76	0	21	2								-15.390750	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.580000	1.000000	1.000000	0.937177	0.990000	1	8.200000e-01	1
GBGT1	26301	broad.mit.edu	37	9	136030569	136030569	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136030569C>T	ENST00000372040.3	-	6	666	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.G131E|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1			10					ACTCACTTCCCCACGGCAAAC	0.592000																								0							SO:0001583	missense			ENST00000372040.3	1	1	hg19	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.485858|2.485858	0.44147|0.44147	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040;ENST00000540636	T;T|T;T;T	0.42131|0.02579	1.87;0.98|4.96;4.24;4.24	4.98|4.98	4.09|4.09	0.47781|0.47781	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.05731|0.05731	0.0150|0.0150	M|M	0.71206|0.71206	2.165|2.165	0.58432|0.58432	D|D	0.999996|0.999996	B|P;P	0.17667|0.42357	0.023|0.777;0.777	B|B;B	0.17433|0.42738	0.018|0.396;0.396	T|T	0.22452|0.22452	-1.0216|-1.0216	10|10	0.87932|0.51188	D|T	0|0.08	.|.	8.9244|8.9244	0.35632|0.35632	0.0:0.8303:0.0:0.1697|0.0:0.8303:0.0:0.1697	.|.	131|102;119	F5H6M6|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	E|R	131|119;119;102	ENSP00000437518:G131E;ENSP00000361108:G131E|ENSP00000361113:G119R;ENSP00000361110:G119R;ENSP00000437663:G102R	ENSP00000361108:G131E|ENSP00000361110:G119R	G|G	-|-	2|1	0|0	GBGT1;RALGDS|GBGT1	135020390|135020390	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.084000|0.084000	0.17831|0.17831	4.413000|4.413000	0.59795|0.59795	1.085000|1.085000	0.41206|0.41206	-0.258000|-0.258000	0.10820|0.10820	GGG|GGG		TCGA-IB-7651-01A-11D-2154-08	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	0	0	0	23	148	0	42	0	9.738132e-01	0	41	0	42	2		0	0	0	0	0	2	1	9.999995e-01	23	145	0	40	2								-2.697241	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.970000	1.000000	1.000000	0.997656	0.990000	1	9.900000e-01	1
ABO	28	broad.mit.edu	37	9	136132863	136132863	+	RNA	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136132863C>T	ENST00000453660.2	-	0	317				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)			11					TTGAGGATGTCGATGTTGAAT	0.552000																								0											ENST00000453660.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	0	0	0	51	256	0	52	1	9.411801e-01	6	20	0	52	2		0	0	0	0	0	2	1	1	51	252	0	51	2								-3.050556	1	1	121130	2	33	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MED22	6837	broad.mit.edu	37	9	136208442	136208442	+	Silent	SNP	C	C	T	rs78711238	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136208442C>T	ENST00000491289.1	-	5	1097	c.516G>A	c.(514-516)gcG>gcA	p.A172A	MED22_ENST00000471524.1_5'Flank|MED22_ENST00000343730.5_Silent_p.A172A|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000476080.1_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22			4					GCTCCGGGGACGCCAGCAGAG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000491289.1	1	0	hg19	CCDS6963.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	0	0	1	27	122	0	34	1	9.999311e-01	15	58	0	34	2		0	0	0	0	0	2	1	1	27	121	0	34	2								-2.073168	0	0	121408	1414	59	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999937	0.990000	1	9.900000e-01	1
MED22	6837	broad.mit.edu	37	9	136208494	136208494	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136208494C>A	ENST00000491289.1	-	5	1045	c.464G>T	c.(463-465)aGg>aTg	p.R155M	MED22_ENST00000471524.1_5'Flank|MED22_ENST00000343730.5_Missense_Mutation_p.R155M|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000476080.1_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22			4					GAGGTCCAGCCTCCCGTAAGC	0.637000																								0							SO:0001583	missense			ENST00000491289.1	0	1	hg19	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137971	0.77775	.	.	ENSG00000148297	ENST00000491289;ENST00000343730	.	.	.	4.56	4.56	0.56223	.	0.402007	0.27464	N	0.019259	T	0.50137	0.1598	L	0.27053	0.805	0.80722	D	1	P	0.50943	0.94	P	0.50231	0.635	T	0.56469	-0.7974	9	0.87932	D	0	-8.2001	14.6524	0.68808	0.0:1.0:0.0:0.0	.	155	Q15528	MED22_HUMAN	M	155	.	ENSP00000342343:R155M	R	-	2	0	MED22	135198315	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.500000	0.53318	2.355000	0.79922	0.563000	0.77884	AGG		TCGA-IB-7651-01A-11D-2154-08	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	0	0	0	6	192	0	40	1	7.422432e-01	4	80	0	40	2		0	0	0	0	0	2	1	9.628365e-01	6	187	0	40	2								-8.175482	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.360000	0.150000	0.690000	0.340000	0.388817	0.360000	0	2.400000e-01	5.200000e-01
RPL7A	6130	broad.mit.edu	37	9	136218201	136218201	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136218201C>T	ENST00000323345.6	+	8	811	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	RPL7A_ENST00000463740.1_3'UTR|SNORD36A_ENST00000362874.1_RNA|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F|SNORD24_ENST00000383884.1_RNA|SNORD36C_ENST00000516733.1_RNA|SNORD36B_ENST00000363961.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a			7					GGCTAAAGAACTTGCCACTAA	0.418000																								0							SO:0001583	missense			ENST00000323345.6	0	1	hg19	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351939	0.41700	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.66638	0.33;-0.22	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.87097	2.86	0.80722	D	1	B	0.33280	0.405	B	0.36289	0.221	T	0.78445	-0.2201	10	0.62326	D	0.03	.	17.5815	0.87970	0.0:1.0:0.0:0.0	.	261	P62424	RL7A_HUMAN	F	261;146	ENSP00000361076:L261F;ENSP00000361071:L146F	ENSP00000361071:L146F	L	+	1	0	RPL7A	135208022	1.000000	0.71417	0.983000	0.44433	0.061000	0.15899	7.166000	0.77553	2.400000	0.81607	0.561000	0.74099	CTT		TCGA-IB-7651-01A-11D-2154-08	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	1	0	1	27	106	0	30	1	1	1424	3087	0	30	2		0	0	0	0	0	2	1	1	25	103	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
SURF4	6836	broad.mit.edu	37	9	136231830	136231830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136231830C>T	ENST00000371989.3	-	5	558	c.429G>A	c.(427-429)gcG>gcA	p.A143A	SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Silent_p.A143A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Silent_p.A143A	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4			8					TGGGGACGCCCGCAAACATGC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000371989.3	0	1	hg19	CCDS6968.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	1	0	0	20	88	0	27	1	1	190	560	0	27	2		0	0	0	0	0	2	1	9.999959e-01	19	83	0	27	2								-3.635029	1	1	121406	11	36	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999672	0.990000	1	9.900000e-01	1
C9orf96	0	broad.mit.edu	37	9	136245957	136245957	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136245957G>T	ENST00000371957.3	+	2	245	c.138G>T	c.(136-138)gaG>gaT	p.E46D	C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|C9orf96_ENST00000468046.1_3'UTR|SURF4_ENST00000371989.3_5'Flank|SURF4_ENST00000485435.2_5'Flank	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN				25					TGGTGGTGGAGGAAATGGAAA	0.498000																								0							SO:0001583	missense			ENST00000371957.3	1	1	hg19	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248659	0.39797	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.19938	2.11;2.11	3.89	-1.63	0.08345	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129615	0.31697	U	0.007216	T	0.24236	0.0587	L	0.58669	1.825	0.35834	D	0.825527	D	0.54601	0.967	P	0.50860	0.652	T	0.15009	-1.0452	10	0.48119	T	0.1	-16.8237	7.7812	0.29066	0.5057:0.0:0.4943:0.0	.	46	Q8NE28	SGK71_HUMAN	D	46	ENSP00000398807:E46D;ENSP00000361025:E46D	ENSP00000361025:E46D	E	+	3	2	C9orf96	135235778	0.013000	0.17824	0.249000	0.24280	0.516000	0.34256	0.394000	0.20834	-0.571000	0.06014	-0.657000	0.03884	GAG		TCGA-IB-7651-01A-11D-2154-08	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1	0	0	0	9	221	0	47	0	5.896070e-03	0	3	0	47	2		0	0	0	0	0	2	1	9.931064e-01	9	210	0	45	2								-3.151127	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.450000	0.220000	0.780000	0.440000	0.480738	0.450000	0	3.200000e-01	6.200000e-01
C9orf96	0	broad.mit.edu	37	9	136260729	136260729	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136260729C>T	ENST00000371957.3	+	9	812	c.705C>T	c.(703-705)ggC>ggT	p.G235G	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN				25					CCGTGCAGGGCACAGAAGCCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000371957.3	1	1	hg19	CCDS35169.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1	1	0	0	35	201	0	56	0	6.283534e-02	0	3	0	56	2		0	0	0	0	0	2	1	1	35	195	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999879	0.990000	1	9.900000e-01	1
SLC2A6	11182	broad.mit.edu	37	9	136337180	136337180	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337180G>A	ENST00000371899.4	-	10	1564	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6			10					GCGGAAGAAGGACTCGATCTG	0.617000																								0							SO:0001583	missense			ENST00000371899.4	1	1	hg19	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851904	0.32699	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	D;T	0.81739	-1.53;-0.85	4.78	3.86	0.44501	.	0.481200	0.23666	N	0.045766	D	0.82346	0.5017	L	0.42632	1.34	0.26555	N	0.973838	P;P	0.50819	0.874;0.939	P;P	0.55455	0.568;0.776	T	0.75918	-0.3148	10	0.51188	T	0.08	.	14.0612	0.64802	0.0:0.152:0.848:0.0	.	434;496	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	F	434;496	ENSP00000360964:S434F;ENSP00000360966:S496F	ENSP00000360964:S434F	S	-	2	0	SLC2A6	135327001	1.000000	0.71417	0.990000	0.47175	0.268000	0.26511	3.358000	0.52284	1.222000	0.43521	0.650000	0.86243	TCC		TCGA-IB-7651-01A-11D-2154-08	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	1	0	1	79	278	0	71	1	9.999970e-01	25	43	0	71	2		0	0	0	0	0	2	1	1	78	276	0	71	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC2A6	11182	broad.mit.edu	37	9	136337292	136337292	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337292A>C	ENST00000371899.4	-	10	1452	c.1375T>G	c.(1375-1377)Ttc>Gtc	p.F459V	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6			10					TGGAGGCCGAAGGTGCTCTGC	0.657000																								0							SO:0001583	missense			ENST00000371899.4	1	1	hg19	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478881	0.26511	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.73363	0.24;-0.74	5.3	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118466	0.64402	N	0.000014	T	0.66096	0.2755	L	0.35593	1.075	0.36309	D	0.857513	P;P	0.52316	0.952;0.574	P;B	0.49085	0.6;0.255	T	0.67300	-0.5705	10	0.32370	T	0.25	.	6.2843	0.21025	0.7573:0.1619:0.0808:0.0	.	397;459	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	V	397;459	ENSP00000360964:F397V;ENSP00000360966:F459V	ENSP00000360964:F397V	F	-	1	0	SLC2A6	135327113	1.000000	0.71417	0.990000	0.47175	0.142000	0.21351	3.332000	0.52083	0.826000	0.34661	0.529000	0.55759	TTC		TCGA-IB-7651-01A-11D-2154-08	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	1	0	1	70	252	0	61	1	9.999049e-01	21	31	0	61	2		0	0	0	0	0	2	1	1	70	249	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM8C	389827	broad.mit.edu	37	9	136385362	136385362	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136385362G>A	ENST00000339996.3	-	2	285	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C			8					ATGTCGTGACGCATGAAGCAC	0.587000																								0							SO:0001583	missense			ENST00000339996.3	1	1	hg19	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620717	0.46736	.	.	ENSG00000187616	ENST00000339996	T	0.46819	0.86	4.93	4.93	0.64822	.	0.147714	0.38326	N	0.001730	T	0.60301	0.2258	L	0.56769	1.78	0.41486	D	0.988199	D	0.76494	0.999	P	0.57846	0.828	T	0.64859	-0.6308	10	0.66056	D	0.02	-14.4596	15.3445	0.74324	0.0:0.0:1.0:0.0	.	62	A6NI61	TMM8C_HUMAN	C	62	ENSP00000419712:R62C	ENSP00000419712:R62C	R	-	1	0	TMEM8C	135375183	1.000000	0.71417	0.428000	0.26697	0.117000	0.20001	4.457000	0.60088	2.291000	0.77112	0.456000	0.33151	CGT		TCGA-IB-7651-01A-11D-2154-08	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	0	0	0	13	303	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	9.994910e-01	13	296	0	71	2								-3.258556	1	1	121412	1	34	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.470000	0.260000	0.750000	0.460000	0.494577	0.470000	0	3.600000e-01	6.200000e-01
SARDH	1757	broad.mit.edu	37	9	136531866	136531866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136531866G>A	ENST00000371872.4	-	20	2879	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	SARDH_ENST00000422262.2_Silent_p.S706S|SARDH_ENST00000439388.1_Silent_p.S874S|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371868.1_Silent_p.S324S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase			44					CCGGCCCACCGCTGGGGTCAT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000371872.4	0	1	hg19	CCDS6978.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	1	0	1	7	40	0	9	0	5.802452e-01	0	12	0	9	2		0	0	0	0	0	2	1	9.806019e-01	6	39	0	9	2								-14.175130	1	1	120840	1	34	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.690000	1.000000	1.000000	0.973740	0.990000	1	9.900000e-01	1
SARDH	1757	broad.mit.edu	37	9	136561447	136561447	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136561447C>T	ENST00000371872.4	-	14	1962	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	SARDH_ENST00000422262.2_Missense_Mutation_p.A401T|SARDH_ENST00000439388.1_Missense_Mutation_p.A569T|SARDH_ENST00000371868.1_5'UTR	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase			44					TCAAACACAGCGGCGGCCCCT	0.592000																								0							SO:0001583	missense			ENST00000371872.4	0	1	hg19	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319000	0.95682	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.84873	-1.91;-1.91;-1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	M	0.80422	2.495	0.80722	D	1	D	0.62365	0.991	P	0.58520	0.84	D	0.91965	0.5582	10	0.52906	T	0.07	-14.4574	18.4371	0.90650	0.0:1.0:0.0:0.0	.	569	Q9UL12	SARDH_HUMAN	T	569;569;401;569	ENSP00000360938:A569T;ENSP00000403084:A569T;ENSP00000415537:A401T	ENSP00000360938:A569T	A	-	1	0	SARDH	135551268	1.000000	0.71417	0.094000	0.20943	0.832000	0.47134	4.809000	0.62591	2.410000	0.81850	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	0	0	0	9	418	0	115	0	2.304852e-02	0	10	0	115	2		0	0	0	0	0	2	1	9.935409e-01	9	406	0	111	2								-2.797848	1	1	121412	1	28	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.240000	0.120000	0.430000	0.240000	0.263153	0.240000	0	1.700000e-01	3.400000e-01
SARDH	1757	broad.mit.edu	37	9	136573457	136573457	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136573457G>A	ENST00000371872.4	-	11	1679	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	SARDH_ENST00000422262.2_Silent_p.H306H|SARDH_ENST00000439388.1_Silent_p.H474H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase			44					GCGGCTCATCGTGGGGGAAGA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000371872.4	1	1	hg19	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803202	0.16397	.	.	ENSG00000123453	ENST00000539227	.	.	.	5.16	0.649	0.17806	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-39.7047	9.7065	0.40218	0.4372:0.0:0.5628:0.0	.	.	.	.	X	474	.	ENSP00000441529:R474X	R	-	1	2	SARDH	135563278	0.907000	0.30839	1.000000	0.80357	0.714000	0.41099	0.095000	0.15127	0.201000	0.20466	-0.251000	0.11542	CGA		TCGA-IB-7651-01A-11D-2154-08	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	1	0	1	77	500	0	104	0	1.888462e-01	0	6	0	104	2		0	0	0	0	0	2	1	1	77	488	0	104	2								-20.000000	1	1	121410	1	30	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
SARDH	1757	broad.mit.edu	37	9	136594899	136594899	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136594899G>A	ENST00000371872.4	-	6	1160	c.903C>T	c.(901-903)atC>atT	p.I301I	SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000298628.5_Silent_p.I301I|SARDH_ENST00000439388.1_Silent_p.I301I|SARDH_ENST00000371867.1_Silent_p.I212I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase			44					GAATCCCCTCGATGCGCTCGG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000371872.4	1	1	hg19	CCDS6978.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1	1	0	1	67	269	0	76	0	3.475219e-01	0	6	0	76	2		0	0	0	0	0	2	1	1	66	263	0	75	2								-20.000000	1	1	121410	2	28	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRD3	8019	broad.mit.edu	37	9	136901300	136901300	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136901300T>C	ENST00000303407.7	-	10	1975	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3		BRD3/C15orf55(3)	6					TTGGATGATGTGCACTACCCG	0.587000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		9	9q34	8019	bromodomain containing 3		E	0							SO:0001583	missense			ENST00000303407.7	1	1	hg19	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771699	0.69992	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.15372	2.43	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.21921	0.0528	L	0.59967	1.855	0.80722	D	1	B	0.25441	0.126	B	0.31101	0.124	T	0.02398	-1.1165	10	0.46703	T	0.11	-18.4594	14.1802	0.65568	0.0:0.0:0.0:1.0	.	597	Q15059	BRD3_HUMAN	R	597;276	ENSP00000305918:H597R	ENSP00000305918:H597R	H	-	2	0	BRD3	135891121	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.055000	0.71103	1.946000	0.56461	0.402000	0.26972	CAC		TCGA-IB-7651-01A-11D-2154-08	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1	66	346	0	68	1	9.999972e-01	16	83	0	68	2		0	0	0	0	0	2	1	1	66	336	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRD3	8019	broad.mit.edu	37	9	136907020	136907020	+	Silent	SNP	C	C	T	rs141189239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136907020C>T	ENST00000303407.7	-	8	1454	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000357885.2_Silent_p.P423P|BRD3_ENST00000371834.2_Silent_p.P423P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3		BRD3/C15orf55(3)	6					CAGGCAGCGCCGGTGCCTCCA	0.657000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		9	9q34	8019	bromodomain containing 3		E	0							SO:0001819	synonymous_variant			ENST00000303407.7	1	1	hg19	CCDS6980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1	25	109	0	21	1	9.967256e-01	12	31	0	21	2		0	0	0	0	0	2	1	9.999999e-01	25	106	0	21	2								-16.536240	1	1	121342	2	29	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999919	0.990000	1	9.900000e-01	1
BRD3	8019	broad.mit.edu	37	9	136913346	136913346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913346G>A	ENST00000303407.7	-	6	1130	c.945C>T	c.(943-945)tgC>tgT	p.C315C	BRD3_ENST00000357885.2_Silent_p.C315C|BRD3_ENST00000371834.2_Silent_p.C315C	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3		BRD3/C15orf55(3)	6					GGATGCTGTCGCAGTAGCGTA	0.642000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		9	9q34	8019	bromodomain containing 3		E	0							SO:0001819	synonymous_variant			ENST00000303407.7	1	1	hg19	CCDS6980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1	23	150	0	30	1	9.974588e-01	9	56	0	30	2		0	0	0	0	0	2	1	9.999995e-01	23	147	0	30	2								-20.000000	1	1	121334	1	30	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.970000	1.000000	1.000000	0.997395	0.990000	1	9.900000e-01	1
BRD3	8019	broad.mit.edu	37	9	136913496	136913496	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913496C>T	ENST00000303407.7	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	BRD3_ENST00000357885.2_Silent_p.P265P|BRD3_ENST00000371834.2_Silent_p.P265P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3		BRD3/C15orf55(3)	6					CTGACAACGGCGGGGGCGACT	0.637000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		9	9q34	8019	bromodomain containing 3		E	0							SO:0001819	synonymous_variant			ENST00000303407.7	1	1	hg19	CCDS6980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	0	0	0	21	503	0	86	1	8.376332e-01	3	78	0	86	2		0	0	0	0	0	2	1	9.999739e-01	21	391	0	48	2								-2.415328	0	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.460000	0.290000	0.670000	0.460000	0.473376	0.460000	0	3.700000e-01	5.700000e-01
BRD3	8019	broad.mit.edu	37	9	136917482	136917482	+	Silent	SNP	G	G	A	rs61731642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136917482G>A	ENST00000303407.7	-	3	482	c.297C>T	c.(295-297)agC>agT	p.S99S	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000357885.2_Silent_p.S99S|BRD3_ENST00000371834.2_Silent_p.S99S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3		BRD3/C15orf55(3)	6					GCATACATTCGCTTGCACTCC	0.373000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		9	9q34	8019	bromodomain containing 3		E	0							SO:0001819	synonymous_variant			ENST00000303407.7	1	1	hg19	CCDS6980.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	1	32	265	0	52	0	9.690610e-01	0	49	0	52	2		0	0	0	0	0	2	1	1	32	257	0	52	2								-20.000000	1	1	121408	19	46	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.860000	1.000000	1.000000	0.990358	0.990000	1	9.900000e-01	1
BRD3	8019	broad.mit.edu	37	9	136918578	136918578	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136918578C>T	ENST00000303407.7	-	2	207	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	RP11-374P20.4_ENST00000412181.1_RNA|BRD3_ENST00000357885.2_Missense_Mutation_p.A8T|BRD3_ENST00000371834.2_Missense_Mutation_p.A8T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3		BRD3/C15orf55(3)	6					CCCGCGGGGGCGACTGTCGTG	0.682000			T	C15orf55	lethal midline carcinoma of young people										Dom	yes		9	9q34	8019	bromodomain containing 3		E	0							SO:0001583	missense			ENST00000303407.7	1	1	hg19	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645186	0.14451	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885;ENST00000371842;ENST00000433041	T;T;T;T	0.15603	3.28;3.0;3.0;2.41	4.87	2.74	0.32292	.	0.201811	0.24876	N	0.034884	T	0.11922	0.0290	L	0.28556	0.865	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.48119	T	0.1	-11.6772	8.9493	0.35779	0.0:0.7091:0.0:0.2909	.	8;8	Q15059-2;Q15059	.;BRD3_HUMAN	T	8	ENSP00000305918:A8T;ENSP00000360900:A8T;ENSP00000350557:A8T;ENSP00000360908:A8T	ENSP00000305918:A8T	A	-	1	0	BRD3	135908399	0.481000	0.25941	0.760000	0.31359	0.127000	0.20565	0.989000	0.29629	1.045000	0.40225	-0.444000	0.05651	GCC		TCGA-IB-7651-01A-11D-2154-08	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	1	0	0	25	119	0	17	1	9.734369e-01	5	26	0	17	2		0	0	0	0	0	2	1	9.999999e-01	24	114	0	17	2								-20.000000	1	1	120472	1	20	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999847	0.990000	1	9.900000e-01	1
WDR5	11091	broad.mit.edu	37	9	137019649	137019649	+	Silent	SNP	C	C	T	rs140708390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137019649C>T	ENST00000358625.3	+	10	864	c.693C>T	c.(691-693)gcC>gcT	p.A231A	WDR5_ENST00000425041.1_Silent_p.A231A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5			9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)			ACATCCTGGCCGCCACGCTGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000358625.3	1	1	hg19	CCDS6981.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	0	0	1	196	893	0	232	1	1	29	96	0	232	2		0	0	0	0	0	2	1	1	193	882	0	232	2								-3.069550	1	1	121412	65	55	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RXRA	6256	broad.mit.edu	37	9	137328346	137328346	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137328346G>A	ENST00000481739.1	+	10	1327	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	RXRA_ENST00000540193.1_Silent_p.L328L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha			19				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TGCCGGCTCTGCGCTCCATCG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000481739.1	1	1	hg19	CCDS35172.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	0	0	0	21	554	0	104	1	9.695310e-01	5	147	0	104	2		0	0	0	0	0	2	1	9.999969e-01	20	542	0	101	2								-3.962773	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.410000	0.260000	0.610000	0.420000	0.431963	0.410000	0	3.300000e-01	5.200000e-01
COL5A1	1289	broad.mit.edu	37	9	137591908	137591908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137591908C>T	ENST00000371817.3	+	3	845	c.431C>T	c.(430-432)aCg>aTg	p.T144M	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			GAGGACCACACGGGGAAGCCT	0.627000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608730	0.46527	.	.	ENSG00000130635	ENST00000371817	T	0.02472	4.28	4.57	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.507528	0.17987	U	0.155333	T	0.04003	0.0112	M	0.68593	2.085	0.32628	N	0.522422	B	0.11235	0.004	B	0.10450	0.005	T	0.02751	-1.1115	10	0.49607	T	0.09	.	5.2768	0.15653	0.1567:0.6225:0.0:0.2207	.	144	P20908	CO5A1_HUMAN	M	144	ENSP00000360882:T144M	ENSP00000360882:T144M	T	+	2	0	COL5A1	136731729	0.445000	0.25657	0.954000	0.39281	0.986000	0.74619	1.052000	0.30429	1.047000	0.40274	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1	71	307	0	71	0	1	1	599	0	71	2		0	0	0	0	0	2	1	1	70	304	0	70	2								-20.000000	1	1	121406	4	41	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			TTTCAGTACACGGAAGGAGAC	0.612000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403179	0.42613	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	3.93	3.93	0.45458	.	0.890707	0.09636	U	0.775651	D	0.83166	0.5195	N	0.22421	0.69	0.80722	D	1	P	0.41265	0.744	B	0.36766	0.232	T	0.81127	-0.1074	10	0.59425	D	0.04	.	15.9158	0.79517	0.0:1.0:0.0:0.0	.	264	P20908	CO5A1_HUMAN	M	264	ENSP00000360882:T264M	ENSP00000360882:T264M	T	+	2	0	COL5A1	136760341	0.990000	0.36364	0.994000	0.49952	0.316000	0.28119	6.107000	0.71517	1.724000	0.51502	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1	167	869	0	218	0	1	0	1147	0	218	2		0	0	0	0	0	2	1	1	166	854	0	215	2								-20.000000	1	1	121412	3	40	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A1	1289	broad.mit.edu	37	9	137623411	137623411	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137623411C>A	ENST00000371817.3	+	8	1648	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			GATCCGGAACCTTGACGAGAA	0.622000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	4.938	0.174191	0.09391	.	.	ENSG00000130635	ENST00000371817	D	0.89552	-2.53	4.16	2.19	0.27852	.	0.936132	0.08761	U	0.897691	T	0.79082	0.4386	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.61520	-0.7046	10	0.22109	T	0.4	.	5.1304	0.14907	0.0:0.4548:0.4015:0.1437	.	412	P20908	CO5A1_HUMAN	I	412	ENSP00000360882:L412I	ENSP00000360882:L412I	L	+	1	0	COL5A1	136763232	0.239000	0.23836	0.097000	0.21041	0.137000	0.21094	0.610000	0.24253	0.188000	0.20168	0.313000	0.20887	CTT		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	0	0	13	425	0	68	0	1	0	1388	0	68	2		0	0	0	0	0	2	1	9.995336e-01	13	423	0	68	2								-3.184783	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.340000	0.190000	0.550000	0.340000	0.359328	0.340000	0	2.600000e-01	4.500000e-01
COL5A1	1289	broad.mit.edu	37	9	137630649	137630649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630649G>T	ENST00000371817.3	+	11	1903	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			GGACCCTGGAGAAAGGGTAAG	0.572000																								0							SO:0001587	stop_gained			ENST00000371817.3	0	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	43	10.520879	0.99420	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000360882:E497X	E	+	1	0	COL5A1	136770470	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.337000	0.72958	2.166000	0.68216	0.491000	0.48974	GAA		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1	66	384	0	92	0	1	1	759	0	92	2		0	0	0	0	0	2	1	1	66	371	0	92	2								-20.000000	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
COL5A1	1289	broad.mit.edu	37	9	137653790	137653790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653790G>A	ENST00000371817.3	+	19	2369	c.1955G>A	c.(1954-1956)gGc>gAc	p.G652D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			GGTCCTTCCGGCCCACCAGGA	0.577000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223112	0.39300	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	4.53	4.53	0.55603	.	0.154112	0.42294	U	0.000725	D	0.99764	0.9904	H	0.98133	4.155	0.51767	D	0.999933	D	0.89917	1.0	D	0.79108	0.992	D	0.97090	0.9790	10	0.87932	D	0	.	12.7642	0.57383	0.0:0.0:1.0:0.0	.	652	P20908	CO5A1_HUMAN	D	652	ENSP00000360882:G652D	ENSP00000360882:G652D	G	+	2	0	COL5A1	136793611	1.000000	0.71417	0.993000	0.49108	0.371000	0.29859	6.552000	0.73914	2.067000	0.61834	0.556000	0.70494	GGC		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	0	1	69	321	0	72	1	1	2	803	0	72	2		0	0	0	0	0	2	1	1	68	318	0	71	2								-3.205692	1	0	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	rs149912828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			CCAGGACCTCCGGGAGACGAT	0.597000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204150	0.22205	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.53	4.53	0.55603	.	0.152829	0.44688	U	0.000431	D	0.97835	0.9289	M	0.82823	2.61	0.51233	D	0.99991	D	0.89917	1.0	D	0.74023	0.982	D	0.98448	1.0590	10	0.87932	D	0	.	12.7642	0.57383	0.0:1.0:0.0:0.0	.	657	P20908	CO5A1_HUMAN	L	657	ENSP00000360882:P657L	ENSP00000360882:P657L	P	+	2	0	COL5A1	136793626	0.972000	0.33761	0.573000	0.28510	0.014000	0.08584	5.210000	0.65214	2.067000	0.61834	0.556000	0.70494	CCG		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	0	25	344	0	74	0	1	0	939	0	74	2		0	0	0	0	0	2	1	9.999998e-01	25	339	0	74	2								-3.075734	1	1	121392	6	41	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.770000	0.510000	1.000000	1.000000	0.782476	0.770000	0	6.300000e-01	9.300000e-01
COL5A1	1289	broad.mit.edu	37	9	137671958	137671958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137671958G>A	ENST00000371817.3	+	28	2810	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			GGGGCCGATGGCATCCGTGGT	0.597000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452148	0.63290	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	3.99	3.99	0.46301	.	.	.	.	.	D	0.99809	0.9917	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96523	0.9387	9	0.87932	D	0	.	15.2143	0.73250	0.0:0.0:1.0:0.0	.	799	P20908	CO5A1_HUMAN	D	799	ENSP00000360882:G799D	ENSP00000360882:G799D	G	+	2	0	COL5A1	136811779	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	8.204000	0.89741	1.933000	0.56026	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1	124	551	0	128	0	1	0	998	0	128	2		0	0	0	0	0	2	1	1	120	540	0	128	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A1	1289	broad.mit.edu	37	9	137703363	137703363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137703363G>A	ENST00000371817.3	+	46	4022	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			CCGGGGCCTCGGGGCCAGCAG	0.652000											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617406	0.66672	.	.	ENSG00000130635	ENST00000371817	D	0.93659	-3.26	4.19	4.19	0.49359	.	0.000000	0.85682	U	0.000000	D	0.94215	0.8143	L	0.33189	0.99	0.58432	D	0.999993	D	0.69078	0.997	D	0.70227	0.968	D	0.94818	0.7984	10	0.54805	T	0.06	.	16.5137	0.84293	0.0:0.0:1.0:0.0	.	1203	P20908	CO5A1_HUMAN	Q	1203	ENSP00000360882:R1203Q	ENSP00000360882:R1203Q	R	+	2	0	COL5A1	136843184	1.000000	0.71417	0.359000	0.25824	0.434000	0.31775	9.707000	0.98725	1.886000	0.54624	0.544000	0.68410	CGG		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	0	32	114	0	21	0	1	0	835	0	21	2		0	0	0	0	0	2	1	1	28	112	0	21	2								-3.908130	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
COL5A1	1289	broad.mit.edu	37	9	137710721	137710721	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137710721G>T	ENST00000371817.3	+	56	4780	c.4366G>T	c.(4366-4368)Ggc>Tgc	p.G1456C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			AGGATCCCCAGGCCCGGACGG	0.632000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870760	0.72065	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.99635	0.9866	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97268	0.9909	10	0.87932	D	0	.	17.6063	0.88039	0.0:0.0:1.0:0.0	.	1456	P20908	CO5A1_HUMAN	C	1456	ENSP00000360882:G1456C	ENSP00000360882:G1456C	G	+	1	0	COL5A1	136850542	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.732000	0.98816	2.150000	0.67090	0.448000	0.29417	GGC		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1	47	254	0	49	0	1	0	938	0	49	2		0	0	0	0	0	2	1	1	47	244	0	48	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
COL5A1	1289	broad.mit.edu	37	9	137715277	137715277	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137715277A>G	ENST00000371817.3	+	61	5074	c.4660A>G	c.(4660-4662)Aag>Gag	p.K1554E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			AACTGGCCCGAAGGGTGAGGC	0.597000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112518	0.77210	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.94138	-3.36	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	D	0.94238	0.8150	L	0.33710	1.025	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.94402	0.7624	10	0.48119	T	0.1	.	14.9462	0.71032	1.0:0.0:0.0:0.0	.	1554	P20908	CO5A1_HUMAN	E	1554;91	ENSP00000360882:K1554E	ENSP00000347458:K91E	K	+	1	0	COL5A1	136855098	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	9.247000	0.95444	1.934000	0.56057	0.523000	0.50628	AAG		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	0	1	124	616	0	151	0	1	0	884	0	151	2		0	0	0	0	0	2	1	1	123	613	0	151	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL5A1	1289	broad.mit.edu	37	9	137727028	137727028	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137727028G>A	ENST00000371817.3	+	65	5762	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1			115		Myeloproliferative disorder(178;0.0341)			CCCTACATCCGCGCCCTGGTG	0.667000																								0							SO:0001583	missense			ENST00000371817.3	1	1	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656189	0.47467	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.73897	-0.79	5.03	1.15	0.20763	Fibrillar collagen, C-terminal (4);	0.096797	0.41605	U	0.000857	T	0.64538	0.2607	L	0.48877	1.53	0.22446	N	0.999096	B	0.14012	0.009	B	0.12837	0.008	T	0.56025	-0.8047	10	0.52906	T	0.07	.	9.8595	0.41105	0.281:0.0:0.719:0.0	.	1783	P20908	CO5A1_HUMAN	H	1783;320	ENSP00000360882:R1783H	ENSP00000347458:R320H	R	+	2	0	COL5A1	136866849	0.998000	0.40836	0.884000	0.34674	0.982000	0.71751	2.669000	0.46825	-0.051000	0.13334	-0.254000	0.11334	CGC		TCGA-IB-7651-01A-11D-2154-08	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	1	0	1	28	186	0	42	1	1	4	1187	0	42	2		0	0	0	0	0	2	1	1	27	184	0	42	2								-20.000000	1	1	121410	5	34	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.998413	0.990000	1	9.900000e-01	1
FCN2	2220	broad.mit.edu	37	9	137772718	137772718	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137772718C>A	ENST00000291744.6	+	1	61	c.51C>A	c.(49-51)ctC>ctA	p.L17L	FCN2_ENST00000350339.2_Silent_p.L17L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2			20		Myeloproliferative disorder(178;0.0333)			CCCTGCTGCTCTCTTTCCTGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000291744.6	1	1	hg19	CCDS6983.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	1	0	0	8	130	0	27	0	0	0	1	0	27	2		0	0	0	0	0	2	1	9.897453e-01	7	130	0	27	2								-3.232814	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.670000	0.320000	1.000000	1.000000	0.690535	0.670000	0	4.700000e-01	9.200000e-01
FCN2	2220	broad.mit.edu	37	9	137777195	137777195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137777195G>A	ENST00000291744.6	+	5	422	c.412G>A	c.(412-414)Gac>Aac	p.D138N	FCN2_ENST00000350339.2_Missense_Mutation_p.D100N	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2			20		Myeloproliferative disorder(178;0.0333)			CATGGACACGGACGGAGGGGG	0.667000																								0							SO:0001583	missense			ENST00000291744.6	0	1	hg19	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142895	0.57044	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.78595	-1.19;-1.19	3.43	3.43	0.39272	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.318052	0.21853	N	0.068150	D	0.88440	0.6437	M	0.88640	2.97	0.43412	D	0.995559	D;D	0.64830	0.994;0.989	D;D	0.70016	0.967;0.951	D	0.90157	0.4225	10	0.87932	D	0	.	12.333	0.55049	0.0:0.0:1.0:0.0	.	100;138	Q15485-2;Q15485	.;FCN2_HUMAN	N	100;138	ENSP00000291741:D100N;ENSP00000291744:D138N	ENSP00000291744:D138N	D	+	1	0	FCN2	136917016	1.000000	0.71417	0.048000	0.18961	0.396000	0.30629	6.579000	0.74036	1.441000	0.47550	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	1	0	1	24	130	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	9.999998e-01	23	129	0	34	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999489	0.990000	1	9.900000e-01	1
FCN1	2219	broad.mit.edu	37	9	137801699	137801699	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137801699G>A	ENST00000371806.3	-	9	1017	c.926C>T	c.(925-927)gCg>gTg	p.A309V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1			37		Myeloproliferative disorder(178;0.0333)			GTACCCCTTCGCCGCACTCCA	0.577000																								0							SO:0001583	missense			ENST00000371806.3	1	1	hg19	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	g	6.162	0.398001	0.11696	.	.	ENSG00000085265	ENST00000371806	T	0.76186	-1.0	3.2	1.31	0.21738	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	.	.	.	.	T	0.53029	0.1771	N	0.04880	-0.145	0.09310	N	1	B	0.28055	0.199	B	0.20577	0.03	T	0.40776	-0.9545	9	0.49607	T	0.09	.	13.1125	0.59281	0.0:0.8293:0.1707:0.0	.	309	O00602	FCN1_HUMAN	V	309	ENSP00000360871:A309V	ENSP00000360871:A309V	A	-	2	0	FCN1	136941520	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.833000	0.39161	0.187000	0.20147	-0.814000	0.03130	GCG		TCGA-IB-7651-01A-11D-2154-08	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	1	0	1	101	381	0	87	0	9.503960e-01	0	21	0	87	2		0	0	0	0	0	2	1	1	99	374	0	87	2								-3.862459	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FCN1	2219	broad.mit.edu	37	9	137804960	137804960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137804960G>A	ENST00000371806.3	-	6	461	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1			37		Myeloproliferative disorder(178;0.0333)			AAATACCCCCGGTCTAGCAGG	0.682000																								0							SO:0001583	missense			ENST00000371806.3	1	1	hg19	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567818	0.45798	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	T	0.78126	-1.15	3.39	-0.646	0.11472	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	D	0.85635	0.5742	M	0.90309	3.105	0.09310	N	1	D	0.76494	0.999	P	0.54965	0.765	T	0.77907	-0.2412	9	0.87932	D	0	.	11.0246	0.47739	0.0:0.0:0.5173:0.4827	.	124	O00602	FCN1_HUMAN	W	124;124;112	ENSP00000360871:R124W	ENSP00000308877:R112W	R	-	1	2	FCN1	136944781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.134000	0.15932	-0.115000	0.11915	-0.287000	0.09952	CGG		TCGA-IB-7651-01A-11D-2154-08	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	1	0	1	26	125	0	26	0	5.428162e-01	0	10	0	26	2		0	0	0	0	0	2	1	1	25	123	0	26	2								-20.000000	1	1	121408	1	25	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999869	0.990000	1	9.900000e-01	1
OLFM1	10439	broad.mit.edu	37	9	137990133	137990133	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137990133C>T	ENST00000371793.3	+	4	709	c.458C>T	c.(457-459)gCg>gTg	p.A153V	OLFM1_ENST00000371796.3_Splice_Site_p.A126V|OLFM1_ENST00000252854.4_Splice_Site_p.A135V	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1			21		Myeloproliferative disorder(178;0.0333)			ACCTTGCAGGCGATAAAAGCG	0.468000																								0							SO:0001630	splice_region_variant			ENST00000371793.3	1	0	hg19		.	.	.	.	.	.	.	.	.	.	C	16.78	3.216445	0.58452	2.27E-4	0.0	ENSG00000130558	ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877	D;T;D;T;D;D	0.87103	-2.21;1.44;-2.21;0.45;-2.21;-1.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	N	0.19112	0.55	0.80722	D	1	P;B	0.39862	0.692;0.375	B;B	0.36808	0.233;0.104	T	0.81994	-0.0677	10	0.48119	T	0.1	.	18.9219	0.92529	0.0:1.0:0.0:0.0	.	153;135	Q99784;Q6IMJ8	NOE1_HUMAN;.	V	135;142;126;70;153;50	ENSP00000252854:A135V;ENSP00000340318:A142V;ENSP00000360861:A126V;ENSP00000444296:A70V;ENSP00000360858:A153V;ENSP00000443806:A50V	ENSP00000252854:A135V	A	+	2	0	OLFM1	137129954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.695000	0.68279	2.546000	0.85860	0.637000	0.83480	GCG		TCGA-IB-7651-01A-11D-2154-08	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	1	0	1	26	203	0	40	0	9.329344e-01	1	37	0	40	2		0	0	0	0	0	2	1	9.999999e-01	26	198	0	40	2								-3.318934	1	1	121402	1	32	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.870000	1.000000	1.000000	0.991642	0.990000	1	9.900000e-01	1
OLFM1	10439	broad.mit.edu	37	9	137998692	137998692	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137998692C>T	ENST00000371793.3	+	5	1025	c.774C>T	c.(772-774)ggC>ggT	p.G258G	OLFM1_ENST00000371796.3_Silent_p.G231G|OLFM1_ENST00000252854.4_Silent_p.G240G	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1			21		Myeloproliferative disorder(178;0.0333)			CCCCTGAAGGCGATAACCGGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000371793.3	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	1	0	1	14	69	0	16	1	9.914205e-01	20	23	0	16	2		0	0	0	0	0	2	1	9.998303e-01	14	68	0	16	2								-19.999990	1	1	121280	2	30	1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.970000	1.000000	1.000000	0.997228	0.990000	1	9.900000e-01	1
MRPS2	51116	broad.mit.edu	37	9	138392846	138392846	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138392846G>A	ENST00000371785.1	+	3	255	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T|C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000429260.2_5'Flank|C9orf116_ENST00000371791.1_Intron			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2			6					CCCCCCAGGTGCCCGGGCCCC	0.716000																								0							SO:0001583	missense			ENST00000371785.1	1	1	hg19	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389307	0.42410	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.36699	1.91;1.91;1.24	3.64	-1.15	0.09709	.	1.354340	0.05382	U	0.537332	T	0.22244	0.0536	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16276	-1.0408	10	0.11485	T	0.65	-4.5501	0.4291	0.00468	0.2622:0.1978:0.3387:0.2013	.	16	Q9Y399	RT02_HUMAN	T	16;16;30	ENSP00000360850:A16T;ENSP00000241600:A16T;ENSP00000400082:A30T	ENSP00000241600:A16T	A	+	1	0	MRPS2	137532667	0.094000	0.21725	0.011000	0.14972	0.102000	0.19082	0.105000	0.15333	-0.091000	0.12440	0.484000	0.47621	GCC		TCGA-IB-7651-01A-11D-2154-08	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1	1	0	0	46	150	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1	45	147	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPS2	51116	broad.mit.edu	37	9	138395463	138395463	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395463C>T	ENST00000371785.1	+	5	584	c.375C>T	c.(373-375)ctC>ctT	p.L125L	MRPS2_ENST00000241600.5_Silent_p.L125L|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2			6					CCACGCACCTCCAGCTGGCCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000371785.1	1	1	hg19	CCDS6990.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1	1	0	1	36	267	0	78	1	1	44	238	0	78	2		0	0	0	0	0	2	1	1	36	261	0	78	2								-2.774775	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.960000	1.000000	1.000000	0.997712	0.990000	1	9.900000e-01	1
MRPS2	51116	broad.mit.edu	37	9	138395608	138395608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395608G>A	ENST00000371785.1	+	5	729	c.520G>A	c.(520-522)Ggc>Agc	p.G174S	MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2			6					CTTCAGGGGCGGCATGCTGAC	0.582000																								0							SO:0001583	missense			ENST00000371785.1	1	1	hg19	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579148	0.86645	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.78816	-1.21;-1.21;-1.21	4.56	3.66	0.41972	Ribosomal protein S2, flavodoxin-like domain (1);	0.051133	0.85682	D	0.000000	D	0.91703	0.7377	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.93279	0.6658	10	0.87932	D	0	-49.8301	11.7384	0.51778	0.0857:0.0:0.9143:0.0	.	188;174	Q5T8A0;Q9Y399	.;RT02_HUMAN	S	174;174;188	ENSP00000360850:G174S;ENSP00000241600:G174S;ENSP00000400082:G188S	ENSP00000241600:G174S	G	+	1	0	MRPS2	137535429	1.000000	0.71417	0.957000	0.39632	0.740000	0.42216	8.540000	0.90641	1.140000	0.42260	0.585000	0.79938	GGC		TCGA-IB-7651-01A-11D-2154-08	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1	1	0	1	49	237	0	40	1	1	67	141	0	40	2		0	0	0	0	0	2	1	1	47	229	0	40	2								-3.374620	1	1	0	0		1	0	0	0	1.941936	0	0.170000	2.060000	1.467928e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GLT6D1	360203	broad.mit.edu	37	9	138516029	138516029	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516029C>T	ENST00000371763.1	-	5	998	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1			15		Myeloproliferative disorder(178;0.0821)			TGAATAACTCCGTTCAGATAT	0.383000																								0							SO:0001583	missense			ENST00000371763.1	1	1	hg19	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	c	10.80	1.453806	0.26161	.	.	ENSG00000204007	ENST00000371763	T	0.01406	4.93	2.8	-1.55	0.08558	.	0.488677	0.19103	N	0.122652	T	0.02649	0.0080	M	0.74467	2.265	0.09310	N	1	D	0.67145	0.996	P	0.49012	0.598	T	0.35076	-0.9803	10	0.59425	D	0.04	-16.6457	4.0427	0.09758	0.1646:0.5121:0.0:0.3233	.	249	Q7Z4J2	GL6D1_HUMAN	R	249	ENSP00000360829:G249R	ENSP00000360829:G249R	G	-	1	0	GLT6D1	137655850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.663000	0.25053	-0.360000	0.08138	-2.026000	0.00426	GGA		TCGA-IB-7651-01A-11D-2154-08	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	1	0	1	97	457	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	97	451	0	108	2								-2.611945	1	1	120806	14	43	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLT6D1	360203	broad.mit.edu	37	9	138516299	138516299	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516299C>T	ENST00000371763.1	-	5	728	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	p.A159T(1)		15		Myeloproliferative disorder(178;0.0821)			ATGTGACTGGCGATGTGTTCA	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000371763.1	1	1	hg19	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175931	0.01646	.	.	ENSG00000204007	ENST00000371763	T	0.01246	5.11	3.49	-6.99	0.01605	.	2.131500	0.02486	N	0.088984	T	0.01421	0.0046	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43925	-0.9361	10	0.11182	T	0.66	-4.1633	6.7334	0.23395	0.1521:0.4874:0.2584:0.1022	.	159	Q7Z4J2	GL6D1_HUMAN	T	159	ENSP00000360829:A159T	ENSP00000360829:A159T	A	-	1	0	GLT6D1	137656120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.909000	0.04058	-4.466000	0.00047	-1.708000	0.00717	GCC		TCGA-IB-7651-01A-11D-2154-08	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	1	0	0	10	208	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	9.970109e-01	10	207	0	43	2								-12.296790	1	1	120922	3	33	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.530000	0.270000	0.880000	0.510000	0.553989	0.530000	0	3.800000e-01	7.100000e-01
GLT6D1	360203	broad.mit.edu	37	9	138517963	138517963	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138517963T>C	ENST00000371763.1	-	4	462	c.209A>G	c.(208-210)tAc>tGc	p.Y70C		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1			15		Myeloproliferative disorder(178;0.0821)			CCGCCTTCTGTAATGTTTTTC	0.498000																								0							SO:0001583	missense			ENST00000371763.1	1	1	hg19	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363151	0.41902	.	.	ENSG00000204007	ENST00000371763	T	0.01871	4.59	4.18	3.0	0.34707	.	0.135912	0.34223	N	0.004144	T	0.11281	0.0275	M	0.85373	2.75	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03278	-1.1053	10	0.87932	D	0	-33.1822	7.0578	0.25109	0.3636:0.0:0.0:0.6364	.	70	Q7Z4J2	GL6D1_HUMAN	C	70	ENSP00000360829:Y70C	ENSP00000360829:Y70C	Y	-	2	0	GLT6D1	137657784	0.854000	0.29725	0.011000	0.14972	0.006000	0.05464	1.747000	0.38298	0.739000	0.32628	0.496000	0.49642	TAC		TCGA-IB-7651-01A-11D-2154-08	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	1	0	1	53	310	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	52	306	0	60	2								-19.999980	1	1	120806	2	32	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
LCN9	392399	broad.mit.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9			6		Myeloproliferative disorder(178;0.0821)			AAGAAACCTGCGAAAAGTACG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000277526.3	1	1	hg19	CCDS56593.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	1	0	1	19	83	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.999932e-01	19	80	0	24	2								-20.000000	1	1	120860	1	30	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999497	0.990000	1	9.900000e-01	1
LCN9	392399	broad.mit.edu	37	9	138557746	138557746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557746C>T	ENST00000277526.3	+	6	515	c.515C>T	c.(514-516)cCt>cTt	p.P172L	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9			6		Myeloproliferative disorder(178;0.0821)			CCGCCCAGGCCTCCCATGCGT	0.687000																								0							SO:0001583	missense			ENST00000277526.3	0	1	hg19	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721389	0.15372	.	.	ENSG00000148386	ENST00000277526	T	0.20200	2.09	2.68	-1.14	0.09741	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39800	-0.9596	9	0.06891	T	0.86	.	4.6366	0.12527	0.0:0.4144:0.4294:0.1562	.	172	Q8WX39	LCN9_HUMAN	L	172	ENSP00000277526:P172L	ENSP00000277526:P186L	P	+	2	0	LCN9	137697567	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.542000	0.06091	-0.431000	0.07307	-0.802000	0.03209	CCT		TCGA-IB-7651-01A-11D-2154-08	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	1	0	0	7	99	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.811591e-01	7	98	0	10	2								-11.801070	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.760000	0.350000	1.000000	1.000000	0.757294	0.760000	0	5.200000e-01	1
SOHLH1	402381	broad.mit.edu	37	9	138586218	138586218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138586218C>T	ENST00000298466.5	-	7	1021	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1			12		Myeloproliferative disorder(178;0.0511)			GCCCTGAACCCAGGGCCCCAC	0.647000																								0							SO:0001583	missense			ENST00000298466.5	1	1	hg19	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522289	0.13066	.	.	ENSG00000165643	ENST00000298466	T	0.42513	0.97	1.82	1.82	0.25136	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	0.999999	P	0.35923	0.528	B	0.25884	0.064	T	0.09952	-1.0651	9	0.08599	T	0.76	.	7.183	0.25784	0.0:1.0:0.0:0.0	.	321	Q5JUK2	SOLH1_HUMAN	R	321	ENSP00000298466:G321R	ENSP00000298466:G321R	G	-	1	0	SOHLH1	137726039	0.000000	0.05858	0.003000	0.11579	0.048000	0.14542	-1.355000	0.02612	1.331000	0.45412	0.442000	0.29010	GGG		TCGA-IB-7651-01A-11D-2154-08	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	1	0	1	28	201	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1	28	195	0	41	2								-3.319316	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.940000	1.000000	1.000000	0.996406	0.990000	1	9.900000e-01	1
KCNT1	57582	broad.mit.edu	37	9	138650335	138650335	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138650335C>A	ENST00000263604.3	+	10	778	c.778C>A	c.(778-780)Ctg>Atg	p.L260M	KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000298480.5_Missense_Mutation_p.L279M|KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M|KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1			50		Myeloproliferative disorder(178;0.0821)			CTGCACCCTGCTGTGCCTCGT	0.627000																								0							SO:0001583	missense			ENST00000263604.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.28	2.786275	0.49997	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.38560	1.6;1.13;1.13;1.13;1.13	4.58	3.44	0.39384	Ion transport 2 (1);	0.098778	0.42420	U	0.000702	T	0.57286	0.2043	M	0.68952	2.095	0.52099	D	0.999949	P;P;D;P	0.56035	0.767;0.607;0.974;0.607	P;P;P;P	0.61800	0.588;0.507;0.894;0.61	T	0.62718	-0.6795	10	0.72032	D	0.01	-27.2141	12.5974	0.56478	0.0:0.9008:0.0:0.0992	.	246;279;231;260	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	231;279;279;226;240;246;260;260;260	ENSP00000417851:L231M;ENSP00000298480:L279M;ENSP00000360822:L279M;ENSP00000420764:L226M;ENSP00000263604:L260M	ENSP00000263604:L260M	L	+	1	2	KCNT1	137790156	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	1.960000	0.40422	2.086000	0.62901	0.313000	0.20887	CTG		TCGA-IB-7651-01A-11D-2154-08	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	93	353	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	92	351	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNT1	57582	broad.mit.edu	37	9	138662175	138662175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138662175C>T	ENST00000263604.3	+	17	1594	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000298480.5_Missense_Mutation_p.R551C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1			50		Myeloproliferative disorder(178;0.0821)			GCAGTGGCAGCGCATGTATGG	0.677000																								0							SO:0001583	missense			ENST00000263604.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.25	3.583234	0.65992	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.24	3.25	0.37280	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.62723	1.935	0.80722	D	1	D;P;D;D	0.76494	0.999;0.882;0.997;0.997	P;B;P;P	0.61658	0.892;0.418;0.827;0.892	T	0.56007	-0.8050	10	0.87932	D	0	-16.3187	7.8272	0.29322	0.2883:0.5633:0.1484:0.0	.	518;551;506;532	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	C	506;551;551;512;518;532;532;532	ENSP00000417851:R506C;ENSP00000298480:R551C;ENSP00000360822:R551C;ENSP00000263604:R532C	ENSP00000263604:R532C	R	+	1	0	KCNT1	137801996	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.689000	0.37700	1.923000	0.55706	0.585000	0.79938	CGC		TCGA-IB-7651-01A-11D-2154-08	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	63	279	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	1	62	275	0	69	2								-2.453490	0	1	121378	2	35	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNT1	57582	broad.mit.edu	37	9	138669337	138669337	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138669337G>A	ENST00000263604.3	+	21	2446	c.2446G>A	c.(2446-2448)Gtg>Atg	p.V816M	KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V835M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1			50		Myeloproliferative disorder(178;0.0821)			GAACCCCATCGTGCTGCTGCT	0.657000																								0							SO:0001583	missense			ENST00000263604.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.62	2.886606	0.51908	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.37	4.37	0.52481	.	0.000000	0.64402	U	0.000001	T	0.82116	0.4967	M	0.84326	2.69	0.58432	D	0.999992	D;D;D;P	0.58268	0.97;0.97;0.982;0.881	B;B;P;B	0.45794	0.298;0.393;0.493;0.221	D	0.86747	0.1958	10	0.72032	D	0.01	-15.4357	16.9291	0.86184	0.0:0.0:1.0:0.0	.	802;835;790;816	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	790;835;835;794;802;816;814;816	ENSP00000417851:V790M;ENSP00000298480:V835M;ENSP00000360822:V835M;ENSP00000263604:V816M	ENSP00000263604:V816M	V	+	1	0	KCNT1	137809158	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	9.639000	0.98448	1.971000	0.57363	0.555000	0.69702	GTG		TCGA-IB-7651-01A-11D-2154-08	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	46	194	0	50	0	3.836343e-02	0	2	0	50	2		0	0	0	0	0	2	1	1	46	192	0	50	2								-20.000000	1	1	121406	1	24	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAMSAP1	157922	broad.mit.edu	37	9	138712706	138712706	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138712706C>T	ENST00000389532.4	-	11	3865	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	CAMSAP1_ENST00000312405.6_Silent_p.P989P|CAMSAP1_ENST00000409386.3_Silent_p.P1278P|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1			47					AGCCGACCCCCGGCTTCTGGT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000389532.4	1	1	hg19	CCDS35176.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	1	0	0	15	356	0	61	0	5.884711e-01	1	46	0	61	2		0	0	0	0	0	2	1	9.998570e-01	15	348	0	61	2								-2.623266	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.460000	0.270000	0.710000	0.460000	0.481371	0.460000	0	3.500000e-01	5.900000e-01
CAMSAP1	157922	broad.mit.edu	37	9	138714511	138714511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714511C>T	ENST00000389532.4	-	11	2060	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1			47					GGTCCTGTCTCGGTGGGGTCG	0.582000																								0							SO:0001583	missense			ENST00000389532.4	1	1	hg19	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304212	0.60305	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14640	2.5;2.49;2.5	5.17	5.17	0.71159	.	1.161590	0.06569	N	0.748121	T	0.12774	0.0310	N	0.22421	0.69	0.51233	D	0.999914	P;P	0.48230	0.85;0.907	B;B	0.34652	0.125;0.187	T	0.47947	-0.9077	10	0.87932	D	0	-4.9181	18.6807	0.91545	0.0:1.0:0.0:0.0	.	666;677	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	K	666;388;677	ENSP00000374183:E666K;ENSP00000312463:E388K;ENSP00000386420:E677K	ENSP00000312463:E388K	E	-	1	0	CAMSAP1	137854332	0.998000	0.40836	0.191000	0.23289	0.004000	0.04260	5.019000	0.64060	2.403000	0.81681	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	1	0	1	38	164	0	49	1	9.997865e-01	12	47	0	49	2		0	0	0	0	0	2	1	1	38	160	0	49	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
CAMSAP1	157922	broad.mit.edu	37	9	138714825	138714825	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714825C>A	ENST00000389532.4	-	11	1746	c.1682G>T	c.(1681-1683)aGg>aTg	p.R561M	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1			47					GGGTGAGGCCCTGGGGAACTC	0.567000																								0							SO:0001583	missense			ENST00000389532.4	1	1	hg19	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549591	0.13374	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15256	2.44;2.44;2.44	3.66	3.66	0.41972	.	0.749151	0.12663	N	0.449442	T	0.16257	0.0391	N	0.22421	0.69	0.09310	N	1	P;P	0.51351	0.79;0.944	B;P	0.47981	0.365;0.563	T	0.08166	-1.0735	10	0.87932	D	0	-38.7949	9.8064	0.40795	0.0:0.8848:0.0:0.1152	.	561;572	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	M	561;283;572	ENSP00000374183:R561M;ENSP00000312463:R283M;ENSP00000386420:R572M	ENSP00000312463:R283M	R	-	2	0	CAMSAP1	137854646	0.008000	0.16893	0.005000	0.12908	0.014000	0.08584	1.419000	0.34793	1.575000	0.49775	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	0	0	1	154	928	1	183	1	9.864762e-01	18	35	1	183	3		0	0	0	0	0	2	1	1	150	919	1	182	20								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACC2	138151	broad.mit.edu	37	9	138905137	138905137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138905137G>A	ENST00000371753.1	-	4	1221	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	NACC2_ENST00000467669.1_5'Flank|NACC2_ENST00000277554.2_Missense_Mutation_p.T388M			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing			5					GTTGGCCAGCGTGTTCCTGGT	0.667000																								0							SO:0001583	missense			ENST00000371753.1	1	1	hg19	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600576	0.87055	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	N	0.24115	0.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.61525	-0.7045	10	0.66056	D	0.02	.	18.7284	0.91724	0.0:0.0:1.0:0.0	.	388	Q96BF6	NACC2_HUMAN	M	388	ENSP00000360818:T388M;ENSP00000277554:T388M	ENSP00000277554:T388M	T	-	2	0	NACC2	138044958	1.000000	0.71417	0.983000	0.44433	0.540000	0.34992	9.618000	0.98365	2.670000	0.90874	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1	1	0	0	74	338	0	48	1	9.976190e-01	5	39	0	48	2		0	0	0	0	0	2	1	1	73	331	0	48	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf69	90120	broad.mit.edu	37	9	139008678	139008678	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139008678C>T	ENST00000418388.1	-	2	571	c.69G>A	c.(67-69)gcG>gcA	p.A23A	C9orf69_ENST00000561457.1_Missense_Mutation_p.R48Q			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69			1		Myeloproliferative disorder(178;0.0511)			GCCCGCAGGCCGCATGCAGGC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000418388.1	0	1	hg19	CCDS59155.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	0	0	0	19	135	0	21	1	7.031931e-01	6	13	0	21	2		0	0	0	0	0	2	1	9.999874e-01	18	125	0	18	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.860000	1.000000	1.000000	0.991322	0.990000	1	9.900000e-01	1
LHX3	8022	broad.mit.edu	37	9	139090800	139090800	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139090800C>T	ENST00000371748.5	-	4	656	c.560G>A	c.(559-561)cGc>cAc	p.R187H	LHX3_ENST00000371746.3_Missense_Mutation_p.R192H	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3			8		Myeloproliferative disorder(178;0.0511)			GAGCTGCTCGCGCACGTGGCG	0.726000																								0							SO:0001583	missense			ENST00000371748.5	0	1	hg19	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323870	0.95708	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.97529	-4.42;-4.41	3.81	3.81	0.43845	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.068967	0.64402	D	0.000012	D	0.99064	0.9679	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98847	1.0757	10	0.87932	D	0	.	14.8468	0.70267	0.0:1.0:0.0:0.0	.	187;192	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	187;192;190	ENSP00000360813:R187H;ENSP00000360811:R192H	ENSP00000319224:R190H	R	-	2	0	LHX3	138230621	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.084000	0.76866	1.959000	0.56917	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3	1	0	0	15	69	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.999168e-01	15	68	0	9	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.998158	0.990000	1	9.900000e-01	1
LHX3	8022	broad.mit.edu	37	9	139091657	139091657	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139091657C>A	ENST00000371748.5	-	3	417	c.321G>T	c.(319-321)caG>caT	p.Q107H	LHX3_ENST00000371746.3_Missense_Mutation_p.Q112H	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3			8		Myeloproliferative disorder(178;0.0511)			ACACGAAGTCCTGGGCGCGGC	0.706000																								0							SO:0001583	missense			ENST00000371748.5	1	1	hg19	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348179	0.61183	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87729	-2.29;-2.29	4.35	2.34	0.29019	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	L	0.46670	1.46	0.80722	D	1	D;B	0.76494	0.999;0.094	D;B	0.71870	0.975;0.193	D	0.88054	0.2789	10	0.52906	T	0.07	.	10.3249	0.43787	0.0:0.8094:0.0:0.1906	.	107;112	Q9UBR4;F1T0D9	LHX3_HUMAN;.	H	107;112;110	ENSP00000360813:Q107H;ENSP00000360811:Q112H	ENSP00000319224:Q110H	Q	-	3	2	LHX3	138231478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.773000	0.38563	1.063000	0.40649	-0.221000	0.12465	CAG		TCGA-IB-7651-01A-11D-2154-08	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3	1	0	1	25	109	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999999e-01	24	108	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999897	0.990000	1	9.900000e-01	1
QSOX2	169714	broad.mit.edu	37	9	139100954	139100954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139100954C>T	ENST00000358701.5	-	12	1754	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2			22		Myeloproliferative disorder(178;0.0511)			CCCTGGTCTGCGGAATACGTG	0.572000																								0							SO:0001583	missense			ENST00000358701.5	1	1	hg19	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850954	0.51270	.	.	ENSG00000165661	ENST00000358701	T	0.17054	2.3	4.91	4.91	0.64330	.	1.152020	0.06417	N	0.721648	T	0.15262	0.0368	L	0.50333	1.59	0.09310	N	1	P	0.44006	0.824	B	0.25405	0.06	T	0.36359	-0.9751	10	0.09843	T	0.71	-2.7184	17.1404	0.86752	0.0:1.0:0.0:0.0	.	573	Q6ZRP7	QSOX2_HUMAN	T	573	ENSP00000351536:A573T	ENSP00000351536:A573T	A	-	1	0	QSOX2	138240775	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.791000	0.26915	2.258000	0.74832	0.558000	0.71614	GCA		TCGA-IB-7651-01A-11D-2154-08	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	1	0	1	78	381	0	95	1	9.980669e-01	7	41	0	95	2		0	0	0	0	0	2	1	1	77	379	0	93	2								-20.000000	1	1	121412	1	36	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPSM1	26086	broad.mit.edu	37	9	139229123	139229123	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139229123G>A	ENST00000440944.1	+	2	508	c.288G>A	c.(286-288)gcG>gcA	p.A96A	GPSM1_ENST00000392945.3_Silent_p.A96A	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1			9		Myeloproliferative disorder(178;0.0821)			TCCTGCTGGCGCGGTGAGTGG	0.682000																								0							SO:0001819	synonymous_variant			ENST00000440944.1	1	1	hg19	CCDS48055.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	40	250	0	38	1	9.707347e-01	8	30	0	38	2		0	0	0	0	0	2	1	1	39	245	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999806	0.990000	1	9.900000e-01	1
GPSM1	26086	broad.mit.edu	37	9	139233060	139233060	+	Silent	SNP	G	G	A	rs140857825		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139233060G>A	ENST00000440944.1	+	7	1087	c.867G>A	c.(865-867)gcG>gcA	p.A289A	GPSM1_ENST00000392945.3_Silent_p.A289A	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1			9		Myeloproliferative disorder(178;0.0821)			CAGTGGAGGCGCAGGCCTGCT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000440944.1	1	0	hg19	CCDS48055.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	15	68	0	16	1	9.149350e-01	4	18	0	16	2		0	0	0	0	0	2	1	9.999249e-01	15	68	0	16	2								-20.000000	1	0	120538	6	37	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.998266	0.990000	1	9.900000e-01	1
GPSM1	26086	broad.mit.edu	37	9	139243186	139243186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139243186G>A	ENST00000440944.1	+	10	1465	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1			9		Myeloproliferative disorder(178;0.0821)			TGAGCGCGGAGACCTGGGACC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000440944.1	1	1	hg19	CCDS48055.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	25	108	0	25	1	9.296764e-01	7	15	0	25	2		0	0	0	0	0	2	1	9.999999e-01	25	109	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999903	0.990000	1	9.900000e-01	1
DNLZ	728489	broad.mit.edu	37	9	139256578	139256578	+	Silent	SNP	G	G	A	rs144760803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139256578G>A	ENST00000371738.3	-	3	497	c.423C>T	c.(421-423)ggC>ggT	p.G141G	DNLZ_ENST00000371739.3_Nonsense_Mutation_p.R95*|CARD9_ENST00000460290.1_5'Flank	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger			2		Myeloproliferative disorder(178;0.0821)			GGGCCCCCTCGCCCGCCACAC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000371738.3	0	1	hg19	CCDS35179.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014166	0.35511	2.28E-4	0.0	ENSG00000213221	ENST00000371739	.	.	.	4.15	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.23043	N	0.998385	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0189	6.9767	0.24679	0.5466:0.2312:0.2222:0.0	.	.	.	.	X	95	.	ENSP00000360804:R95X	R	-	1	2	DNLZ	138376399	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-2.821000	0.00749	-0.993000	0.03467	0.491000	0.48974	CGA		TCGA-IB-7651-01A-11D-2154-08	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055075.2	0	0	0	27	170	0	37	1	9.999918e-01	26	95	0	37	2		0	0	0	0	0	2	1	1	27	168	0	37	2								-2.495165	0	1	121238	1	30	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.998766	0.990000	1	9.900000e-01	1
CARD9	64170	broad.mit.edu	37	9	139262245	139262245	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139262245G>A	ENST00000371732.5	-	8	1278	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	CARD9_ENST00000371734.3_Silent_p.H371H|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9			15		Myeloproliferative disorder(178;0.0511)			GGCCCCGGGCGTGCTGTGCGT	0.706000																								0							SO:0001819	synonymous_variant			ENST00000371732.5	1	1	hg19	CCDS6997.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	1	0	1	38	127	0	24	0	7.574978e-01	1	10	0	24	2		0	0	0	0	0	2	1	1	37	125	0	22	2								-20.000000	1	1	120510	7	32	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CARD9	64170	broad.mit.edu	37	9	139264220	139264220	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139264220G>A	ENST00000371732.5	-	7	1224	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CARD9_ENST00000371734.3_Silent_p.V353V|CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Silent_p.V353V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9			15		Myeloproliferative disorder(178;0.0511)			GCTCAATGGCGACCTCCTCCA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000371732.5	1	1	hg19	CCDS6997.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	1	0	1	16	78	0	16	0	4.239208e-01	0	8	0	16	2		0	0	0	0	0	2	1	9.999529e-01	16	76	0	16	2								-20.000000	1	1	120936	5	35	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.998160	0.990000	1	9.900000e-01	1
CARD9	64170	broad.mit.edu	37	9	139265005	139265005	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139265005G>T	ENST00000371732.5	-	5	941	c.776C>A	c.(775-777)gCc>gAc	p.A259D	CARD9_ENST00000371734.3_Missense_Mutation_p.A259D|CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Missense_Mutation_p.A259D	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9			15		Myeloproliferative disorder(178;0.0511)			CTGCACCCGGGCCTGGAGCAG	0.711000																								0							SO:0001583	missense			ENST00000371732.5	1	1	hg19	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931385	0.52866	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.33865	1.39;1.39;1.39	3.4	3.4	0.38934	.	0.156398	0.41396	D	0.000893	T	0.55878	0.1948	M	0.72894	2.215	0.49051	D	0.999744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.988	T	0.55522	-0.8128	10	0.28530	T	0.3	-27.2828	14.3098	0.66407	0.0:0.0:1.0:0.0	.	155;259;259	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	D	259	ENSP00000360799:A259D;ENSP00000360797:A259D;ENSP00000323719:A259D	ENSP00000323719:A259D	A	-	2	0	CARD9	138384826	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	4.611000	0.61162	1.894000	0.54839	0.467000	0.42956	GCC		TCGA-IB-7651-01A-11D-2154-08	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	1	0	0	18	97	0	20	0	7.040499e-01	0	15	0	20	2		0	0	0	0	0	2	1	9.999885e-01	18	96	0	20	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.998059	0.990000	1	9.900000e-01	1
SNAPC4	6621	broad.mit.edu	37	9	139283031	139283031	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139283031C>T	ENST00000298532.2	-	10	1356	c.988G>A	c.(988-990)Gcc>Acc	p.A330T		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa			33		Myeloproliferative disorder(178;0.0511)			CACTGGAAGGCGCTGCGGCTG	0.592000																								0							SO:0001583	missense			ENST00000298532.2	1	1	hg19	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653575	0.67472	.	.	ENSG00000165684	ENST00000298532	T	0.32515	1.45	5.0	4.04	0.47022	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.118118	0.56097	D	0.000036	T	0.57388	0.2050	M	0.83483	2.645	0.42751	D	0.99377	D	0.89917	1.0	D	0.80764	0.994	T	0.65034	-0.6266	10	0.66056	D	0.02	-27.2109	14.2545	0.66043	0.0:0.7444:0.2556:0.0	.	330	Q5SXM2	SNPC4_HUMAN	T	330	ENSP00000298532:A330T	ENSP00000298532:A330T	A	-	1	0	SNAPC4	138402852	0.971000	0.33674	0.996000	0.52242	0.564000	0.35744	2.302000	0.43637	2.327000	0.79052	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	1	0	1	75	331	0	85	0	3.822986e-01	1	6	0	85	2		0	0	0	0	0	2	1	1	72	325	0	85	2								-20.000000	1	1	121412	1	30	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNAPC4	6621	broad.mit.edu	37	9	139286432	139286432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139286432C>T	ENST00000298532.2	-	9	1305	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa			33		Myeloproliferative disorder(178;0.0511)			TCCAGGTGGCCGTGTGCAGCC	0.662000																								0							SO:0001583	missense			ENST00000298532.2	1	1	hg19	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241696	0.39598	0.0	1.16E-4	ENSG00000165684	ENST00000298532	T	0.27890	1.64	5.35	4.34	0.51931	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.468654	0.24710	N	0.036231	T	0.30262	0.0759	M	0.69185	2.1	0.26832	N	0.968556	D	0.55172	0.97	B	0.42738	0.396	T	0.40515	-0.9559	10	0.59425	D	0.04	-39.7908	6.6974	0.23207	0.0:0.726:0.0:0.274	.	313	Q5SXM2	SNPC4_HUMAN	S	313	ENSP00000298532:G313S	ENSP00000298532:G313S	G	-	1	0	SNAPC4	138406253	0.065000	0.20965	0.954000	0.39281	0.337000	0.28794	0.614000	0.24314	2.507000	0.84556	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	1	0	1	54	360	0	78	1	8.196891e-01	5	18	0	78	2		0	0	0	0	0	2	1	1	54	358	0	77	2								-3.318847	1	1	121410	7	39	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999897	0.990000	1	9.900000e-01	1
PMPCA	23203	broad.mit.edu	37	9	139309012	139309012	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139309012A>G	ENST00000371717.3	+	5	454	c.445A>G	c.(445-447)Acc>Gcc	p.T149A	PMPCA_ENST00000399219.3_Intron|PMPCA_ENST00000371720.1_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha			14		Myeloproliferative disorder(178;0.0821)			CAGAGACACCACCATGTATGC	0.562000																								0							SO:0001583	missense			ENST00000371717.3	1	1	hg19	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.309660	0.60414	.	.	ENSG00000165688	ENST00000371717	T	0.24908	1.83	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.050174	0.85682	D	0.000000	T	0.34832	0.0911	M	0.77486	2.375	0.80722	D	1	B;B;B	0.26318	0.146;0.057;0.057	B;B;B	0.29663	0.105;0.042;0.042	T	0.15896	-1.0421	10	0.51188	T	0.08	.	14.8413	0.70226	1.0:0.0:0.0:0.0	.	149;149;149	B4DRK5;Q5SXM9;Q10713	.;.;MPPA_HUMAN	A	149	ENSP00000360782:T149A	ENSP00000360782:T149A	T	+	1	0	PMPCA	138428833	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.922000	0.92789	2.084000	0.62774	0.528000	0.53228	ACC		TCGA-IB-7651-01A-11D-2154-08	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	1	0	1	93	405	0	117	1	1	28	96	0	117	2		0	0	0	0	0	2	1	1	92	396	0	116	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PMPCA	23203	broad.mit.edu	37	9	139313360	139313360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139313360A>G	ENST00000371717.3	+	10	1199	c.1190A>G	c.(1189-1191)gAc>gGc	p.D397G	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha			14		Myeloproliferative disorder(178;0.0821)			GCCAGCGCCGACCCAAGACAG	0.652000																								0							SO:0001583	missense			ENST00000371717.3	1	1	hg19	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	a	12.48	1.949759	0.34377	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.09445	2.98;2.98;2.98	5.2	5.2	0.72013	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.042704	0.85682	D	0.000000	T	0.10035	0.0246	L	0.35487	1.065	0.80722	D	1	B;B;B;B	0.32968	0.12;0.025;0.392;0.025	B;B;B;B	0.33960	0.126;0.056;0.173;0.056	T	0.26360	-1.0105	10	0.24483	T	0.36	.	14.2719	0.66157	1.0:0.0:0.0:0.0	.	266;397;105;397	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	G	397;266;105	ENSP00000360782:D397G;ENSP00000416702:D266G;ENSP00000408393:D105G	ENSP00000360782:D397G	D	+	2	0	PMPCA	138433181	1.000000	0.71417	0.992000	0.48379	0.277000	0.26821	7.014000	0.76380	1.964000	0.57103	0.529000	0.55759	GAC		TCGA-IB-7651-01A-11D-2154-08	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	0	0	0	9	228	0	52	1	9.591533e-01	5	138	0	52	2		0	0	0	0	0	2	1	9.940274e-01	9	224	0	51	2								-11.518070	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.440000	0.220000	0.760000	0.420000	0.465153	0.440000	0	3.100000e-01	6.000000e-01
INPP5E	56623	broad.mit.edu	37	9	139324245	139324245	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139324245G>T	ENST00000371712.3	-	10	2219	c.1817C>A	c.(1816-1818)gCt>gAt	p.A606D		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa			9		Myeloproliferative disorder(178;0.0511)			AAATTTGCCAGCTGCCAACGG	0.582000																								0							SO:0001583	missense			ENST00000371712.3	1	1	hg19	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511380	0.85389	.	.	ENSG00000148384	ENST00000371712	D	0.97941	-4.62	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.935	D	0.99466	1.0944	10	0.72032	D	0.01	-15.3769	16.6228	0.84934	0.0:0.0:1.0:0.0	.	572;606	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	D	606	ENSP00000360777:A606D	ENSP00000360777:A606D	A	-	2	0	INPP5E	138444066	1.000000	0.71417	0.920000	0.36463	0.744000	0.42396	8.104000	0.89551	2.599000	0.87857	0.651000	0.88453	GCT		TCGA-IB-7651-01A-11D-2154-08	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	0	0	0	10	304	0	58	1	5.169398e-01	3	48	0	58	2		0	0	0	0	0	2	1	9.966946e-01	10	298	0	57	2								-10.640320	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.370000	0.190000	0.620000	0.360000	0.389494	0.370000	0	2.700000e-01	5.000000e-01
INPP5E	56623	broad.mit.edu	37	9	139325493	139325493	+	Silent	SNP	C	C	T	rs150464071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139325493C>T	ENST00000371712.3	-	8	2028	c.1626G>A	c.(1624-1626)acG>acA	p.T542T		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa			9		Myeloproliferative disorder(178;0.0511)			TGCTGTCGTACGTGTCCTTCC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000371712.3	1	1	hg19	CCDS7000.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	1	0	1	48	203	0	39	1	9.985887e-01	9	36	0	39	2	0	0	0	1	0	0	2	1	1	47	202	0	39	2								-20.000000	1	1	121358	9	39	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
INPP5E	56623	broad.mit.edu	37	9	139333311	139333311	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139333311G>A	ENST00000371712.3	-	1	963	c.561C>T	c.(559-561)agC>agT	p.S187S	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa			9		Myeloproliferative disorder(178;0.0511)			GGGGCAGCAGGCTGGGCAGCC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000371712.3	0	1	hg19	CCDS7000.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	0	0	0	13	79	0	17	1	1.665738e-01	4	1	0	17	2		0	0	0	0	0	2	1	9.995846e-01	12	77	0	16	2								-19.997930	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.840000	1.000000	1.000000	0.990611	0.990000	1	9.900000e-01	1
SEC16A	9919	broad.mit.edu	37	9	139341761	139341761	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139341761G>A	ENST00000371706.3	-	25	6114	c.6081C>T	c.(6079-6081)agC>agT	p.S2027S	SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000431893.2_Silent_p.S2027S|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000313050.7_Silent_p.S2205S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)			51		Myeloproliferative disorder(178;0.0511)			GAGCCGGCTCGCTCCGCTGGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000371706.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.974	0.180962	0.09443	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.26	-9.11	0.00711	.	.	.	.	.	.	.	.	.	.	.	0.32196	N	0.578475	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8904	4.3182	0.11003	0.5247:0.0934:0.29:0.092	.	.	.	.	X	335	.	.	R	-	1	2	SEC16A	138461582	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.912000	0.01582	-1.771000	0.01293	-1.804000	0.00617	CGA		TCGA-IB-7651-01A-11D-2154-08	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	0	1	4	45	0	14	1	9.974418e-01	28	142	0	14	2		0	0	0	0	0	2	1	8.831455e-01	4	43	0	14	2								-9.063190	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.900000	0.330000	1.000000	1.000000	0.823050	0.900000	1	5.700000e-01	1
SEC16A	9919	broad.mit.edu	37	9	139357393	139357393	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139357393C>T	ENST00000371706.3	-	10	4338	c.4305G>A	c.(4303-4305)tcG>tcA	p.S1435S	SEC16A_ENST00000431893.2_Silent_p.S1435S|SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000313050.7_Silent_p.S1613S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)			51		Myeloproliferative disorder(178;0.0511)			CTCTCTCGAGCGAGCTGGCGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000371706.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	1	0	1	67	315	0	69	1	1	46	78	0	69	2		0	0	0	0	0	2	1	1	65	304	0	69	2								-3.375052	1	1	120934	6	40	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEC16A	9919	broad.mit.edu	37	9	139368891	139368891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139368891C>A	ENST00000371706.3	-	1	2676	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H|SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000313050.7_Missense_Mutation_p.Q1059H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)			51		Myeloproliferative disorder(178;0.0511)			GCACCAGCTCCTGCTGGGCTC	0.587000																								0							SO:0001583	missense			ENST00000371706.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	6.060	0.379383	0.11466	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.54	0.515	0.17013	.	0.696041	0.14138	N	0.338891	T	0.22085	0.0532	M	0.62723	1.935	0.40474	D	0.98037	B;B;B;B	0.16802	0.011;0.019;0.019;0.011	B;B;B;B	0.18561	0.01;0.022;0.022;0.005	T	0.05632	-1.0873	10	0.27082	T	0.32	-0.2317	5.8162	0.18494	0.0:0.4446:0.2851:0.2704	.	1059;881;881;449	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	H	1059;881;881;881;449	ENSP00000325827:Q1059H;ENSP00000360771:Q881H;ENSP00000290037:Q881H;ENSP00000387583:Q881H	ENSP00000290037:Q881H	Q	-	3	2	SEC16A	138488712	0.213000	0.23551	0.271000	0.24616	0.029000	0.11900	-0.129000	0.10515	-0.077000	0.12752	-0.136000	0.14681	CAG		TCGA-IB-7651-01A-11D-2154-08	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	1	0	1	39	150	0	42	1	9.999998e-01	36	64	0	42	2		0	0	0	0	0	2	1	1	39	148	0	41	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
SEC16A	9919	broad.mit.edu	37	9	139371010	139371010	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371010G>T	ENST00000371706.3	-	1	557	c.524C>A	c.(523-525)gCt>gAt	p.A175D	SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D|SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000313050.7_Missense_Mutation_p.A353D			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)			51		Myeloproliferative disorder(178;0.0511)			CCCGGCCCCAGCCCCCAGTGG	0.602000																								0							SO:0001583	missense			ENST00000371706.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.46	3.628865	0.67015	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.26518	1.73;1.73;1.73;1.74	5.21	4.31	0.51392	.	0.471361	0.19691	N	0.108264	T	0.38665	0.1049	M	0.65975	2.015	0.58432	D	0.999997	P;D;D	0.53462	0.933;0.96;0.96	P;P;P	0.52856	0.518;0.711;0.711	T	0.13176	-1.0519	10	0.28530	T	0.3	-4.6305	13.4519	0.61176	0.0763:0.0:0.9237:0.0	.	353;175;175	F1T0I1;O15027-5;O15027-4	.;.;.	D	353;175;175;175	ENSP00000325827:A353D;ENSP00000360771:A175D;ENSP00000290037:A175D;ENSP00000387583:A175D	ENSP00000290037:A175D	A	-	2	0	SEC16A	138490831	0.018000	0.18449	0.008000	0.14137	0.032000	0.12392	1.957000	0.40392	1.326000	0.45319	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	1	0	1	27	104	0	21	1	9.999949e-01	26	56	0	21	2		0	0	0	0	0	2	1	1	27	102	0	21	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
SEC16A	9919	broad.mit.edu	37	9	139371882	139371882	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371882G>A	ENST00000313050.7	-	1	259	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)			51		Myeloproliferative disorder(178;0.0511)			GTGTACTTTGGAGCGCCTGTC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000313050.7	1	1	hg19	CCDS55351.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	12	324	0	88	1	8.362837e-01	6	85	0	88	2		0	0	0	0	0	2	1	9.990595e-01	13	317	0	89	2								-3.248481	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.410000	0.220000	0.660000	0.400000	0.430889	0.410000	0	3.100000e-01	5.400000e-01
NOTCH1	4851	broad.mit.edu	37	9	139390585	139390585	+	Missense_Mutation	SNP	C	C	T	rs111627256	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139390585C>T	ENST00000277541.6	-	34	7681	c.7606G>A	c.(7606-7608)Gtc>Atc	p.V2536I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	p.V2537I(1)		1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			GGGCTGGAGACGCCCTCGGAC	0.662000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	1	Substitution - Missense(1)	GRCh37	CM083740	NOTCH1	M	rs111627256	SO:0001583	missense			ENST00000277541.6	0	1	hg19	CCDS43905.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	C	2.729	-0.264917	0.05754	5.02E-4	3.61E-4	ENSG00000148400	ENST00000277541	T	0.74842	-0.88	4.83	0.936	0.19488	Domain of unknown function DUF3454, notch (1);	0.110491	0.64402	N	0.000015	T	0.40815	0.1132	N	0.02765	-0.5	0.25400	N	0.988454	B	0.09022	0.002	B	0.09377	0.004	T	0.37314	-0.9711	10	0.02654	T	1	.	7.9967	0.30271	0.0:0.2534:0.0:0.7466	.	2536	P46531	NOTC1_HUMAN	I	2536	ENSP00000277541:V2536I	ENSP00000277541:V2536I	V	-	1	0	NOTCH1	138510406	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.703000	0.37846	-0.037000	0.13646	0.462000	0.41574	GTC		TCGA-IB-7651-01A-11D-2154-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	0	0	0	5	94	0	19	1	9.520361e-01	7	101	0	19	2		0	0	0	0	0	2	1	9.340646e-01	5	91	0	19	2								-7.967021	1	1	119592	40	44	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.590000	0.230000	1.000000	1.000000	0.623590	0.590000	0	3.800000e-01	8.700000e-01
NOTCH1	4851	broad.mit.edu	37	9	139391776	139391776	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391776G>A	ENST00000277541.6	-	34	6490	c.6415C>T	c.(6415-6417)Ctc>Ttc	p.L2139F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1			1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			GGCGAGCAGAGCGGGGGCGAC	0.692000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0							SO:0001583	missense			ENST00000277541.6	1	1	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468738	0.63625	.	.	ENSG00000148400	ENST00000277541	D	0.83075	-1.68	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.76574	2.34	0.80722	D	1	D	0.62365	0.991	P	0.59595	0.86	D	0.88716	0.3226	10	0.41790	T	0.15	.	18.5525	0.91071	0.0:0.0:1.0:0.0	.	2139	P46531	NOTC1_HUMAN	F	2139	ENSP00000277541:L2139F	ENSP00000277541:L2139F	L	-	1	0	NOTCH1	138511597	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	6.280000	0.72626	2.703000	0.92315	0.561000	0.74099	CTC		TCGA-IB-7651-01A-11D-2154-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	0	11	257	0	42	0	3.803004e-01	1	29	0	42	2		0	0	0	0	0	2	1	9.982922e-01	11	253	0	40	2								-13.533530	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.470000	0.250000	0.780000	0.460000	0.495560	0.470000	0	3.500000e-01	6.300000e-01
NOTCH1	4851	broad.mit.edu	37	9	139391890	139391890	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391890C>T	ENST00000277541.6	-	34	6376	c.6301G>A	c.(6301-6303)Gca>Aca	p.A2101T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1			1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			CGCTCCTGTGCGATGTCGCGC	0.682000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0							SO:0001583	missense			ENST00000277541.6	1	1	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323403	0.81580	.	.	ENSG00000148400	ENST00000277541	T	0.74002	-0.8	5.42	5.42	0.78866	Ankyrin repeat-containing domain (3);	0.114264	0.64402	D	0.000015	D	0.87533	0.6201	M	0.90814	3.15	0.80722	D	1	D	0.63046	0.992	P	0.59221	0.854	D	0.89877	0.4027	10	0.87932	D	0	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	2101	P46531	NOTC1_HUMAN	T	2101	ENSP00000277541:A2101T	ENSP00000277541:A2101T	A	-	1	0	NOTCH1	138511711	1.000000	0.71417	0.585000	0.28666	0.317000	0.28152	5.899000	0.69846	2.703000	0.92315	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1	66	277	0	71	1	9.986056e-01	7	37	0	71	2		0	0	0	0	0	2	1	1	66	274	0	70	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOTCH1	4851	broad.mit.edu	37	9	139395286	139395286	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139395286C>T	ENST00000277541.6	-	31	5727	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1			1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			CGATCATGAGCGGGGTGAAGC	0.692000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0							SO:0001819	synonymous_variant			ENST00000277541.6	1	1	hg19	CCDS43905.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	0	24	149	0	24	1	9.881234e-01	4	43	0	24	2		0	0	0	0	0	2	1	9.999998e-01	24	146	0	24	2								-20.000000	1	1	120050	1	29	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.998298	0.990000	1	9.900000e-01	1
NOTCH1	4851	broad.mit.edu	37	9	139397682	139397682	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139397682C>T	ENST00000277541.6	-	27	5194	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1			1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			CCCAGCGAGGCGAGCGCTCCC	0.642000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0							SO:0001583	missense			ENST00000277541.6	1	1	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238152	0.95240	.	.	ENSG00000148400	ENST00000277541	T	0.37058	1.22	4.81	4.81	0.61882	Notch, NODP domain (1);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.66356	-0.5944	10	0.52906	T	0.07	.	17.2014	0.86907	0.0:1.0:0.0:0.0	.	1707	P46531	NOTC1_HUMAN	T	1707	ENSP00000277541:A1707T	ENSP00000277541:A1707T	A	-	1	0	NOTCH1	138517503	1.000000	0.71417	0.959000	0.39883	0.568000	0.35870	5.777000	0.68931	2.376000	0.81061	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1	43	196	0	52	1	9.891082e-01	6	29	0	52	2		0	0	0	0	0	2	1	1	43	194	0	51	2								-20.000000	1	0	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
NOTCH1	4851	broad.mit.edu	37	9	139405693	139405693	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139405693C>T	ENST00000277541.6	-	16	2573	c.2498G>A	c.(2497-2499)tGt>tAt	p.C833Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1			1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			GCTGGGGGCACACGGGGCCAG	0.672000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0							SO:0001583	missense			ENST00000277541.6	0	1	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553725	0.86231	.	.	ENSG00000148400	ENST00000277541	D	0.90955	-2.76	4.63	4.63	0.57726	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	H	0.99273	4.495	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99683	1.0999	10	0.87932	D	0	.	16.4616	0.84056	0.0:1.0:0.0:0.0	.	833	P46531	NOTC1_HUMAN	Y	833	ENSP00000277541:C833Y	ENSP00000277541:C833Y	C	-	2	0	NOTCH1	138525514	1.000000	0.71417	0.945000	0.38365	0.913000	0.54294	7.251000	0.78297	2.120000	0.65058	0.462000	0.41574	TGT		TCGA-IB-7651-01A-11D-2154-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	0	0	0	35	178	0	35	1	9.994799e-01	5	57	0	35	2		0	0	0	0	0	2	1	1	35	167	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999961	0.990000	1	9.900000e-01	1
NOTCH1	4851	broad.mit.edu	37	9	139410085	139410085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139410085C>T	ENST00000277541.6	-	11	1828	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1			1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			GTGAAGGTGGCGACGCCGTCC	0.692000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0							SO:0001583	missense			ENST00000277541.6	0	1	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313318	0.81358	.	.	ENSG00000148400	ENST00000277541	D	0.91792	-2.91	5.16	3.26	0.37387	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	L	0.31664	0.95	0.80722	D	1	D	0.53151	0.958	P	0.56563	0.801	D	0.89859	0.4015	10	0.49607	T	0.09	.	13.248	0.60033	0.2896:0.7104:0.0:0.0	.	585	P46531	NOTC1_HUMAN	T	585	ENSP00000277541:A585T	ENSP00000277541:A585T	A	-	1	0	NOTCH1	138529906	1.000000	0.71417	0.744000	0.31058	0.973000	0.67179	5.893000	0.69798	0.519000	0.28406	-0.270000	0.10280	GCC		TCGA-IB-7651-01A-11D-2154-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1	16	105	0	18	1	9.718962e-01	10	32	0	18	2		0	0	0	0	0	2	1	9.999439e-01	15	103	0	17	2								-20.000000	1	1	120116	1	31	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.860000	1.000000	1.000000	0.991844	0.990000	1	9.900000e-01	1
NOTCH1	4851	broad.mit.edu	37	9	139412240	139412240	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139412240C>A	ENST00000277541.6	-	8	1480	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	p.D469N(2)		1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)			CCAATCTGGTCCAGGCAGGTG	0.677000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)					Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	2	Substitution - Missense(2)						SO:0001583	missense			ENST00000277541.6	1	1	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444221	0.83993	.	.	ENSG00000148400	ENST00000277541	D	0.92048	-2.96	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97256	0.9103	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98713	1.0705	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	469	P46531	NOTC1_HUMAN	Y	469	ENSP00000277541:D469Y	ENSP00000277541:D469Y	D	-	1	0	NOTCH1	138532061	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.258000	0.78371	2.088000	0.63022	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	1	0	1	78	330	0	83	1	9.976550e-01	4	37	0	83	2		0	0	0	0	0	2	1	1	76	325	0	81	2								-3.405973	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGFL7	51162	broad.mit.edu	37	9	139563096	139563096	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139563096C>T	ENST00000371699.1	+	4	1079	c.168C>T	c.(166-168)tgC>tgT	p.C56C	EGFL7_ENST00000308874.7_Silent_p.C56C|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Silent_p.C56C|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Silent_p.C56C			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7			6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)			TCACCACCTGCGACGGGCACC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000371699.1	1	1	hg19	CCDS7002.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	1	0	1	126	643	0	129	1	9.994972e-01	2	56	0	129	2		0	0	0	0	0	2	1	1	125	636	0	129	2								-20.000000	1	1	121152	3	37	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGFL7	51162	broad.mit.edu	37	9	139564693	139564693	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139564693G>A	ENST00000371699.1	+	7	1393	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7			6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)			AGTTACTGGTGCCAGTGTTGG	0.657000																								0							SO:0001583	missense			ENST00000371699.1	1	1	hg19	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400622	0.83120	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54	5.26	5.26	0.73747	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96994	0.9724	10	0.87932	D	0	-25.823	17.8471	0.88733	0.0:0.0:1.0:0.0	.	161	Q9UHF1	EGFL7_HUMAN	Y	161	ENSP00000360764:C161Y;ENSP00000307843:C161Y;ENSP00000385639:C161Y;ENSP00000360763:C161Y	ENSP00000307843:C161Y	C	+	2	0	EGFL7	138684514	1.000000	0.71417	0.972000	0.41901	0.686000	0.39977	7.784000	0.85713	2.453000	0.82957	0.561000	0.74099	TGC		TCGA-IB-7651-01A-11D-2154-08	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	1	0	0	50	206	0	49	1	9.999999e-01	15	89	0	49	2		0	0	0	0	0	2	1	1	48	203	0	49	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM69B	138311	broad.mit.edu	37	9	139617731	139617731	+	Silent	SNP	G	G	A	rs112780986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617731G>A	ENST00000371692.4	+	5	897	c.801G>A	c.(799-801)gcG>gcA	p.A267A	SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_Silent_p.A180A|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B			8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)			TGGGGCCTGCGTGGCCTTGGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000371692.4	1	1	hg19	CCDS7004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	1	0	0	27	367	0	78	0	2.796617e-02	1	3	0	78	2		0	0	0	0	0	2	1	9.999999e-01	27	352	0	69	2								-3.318808	1	1	121202	21	42	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.770000	0.520000	1.000000	1.000000	0.787677	0.770000	0	6.400000e-01	9.300000e-01
FAM69B	138311	broad.mit.edu	37	9	139617866	139617866	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617866G>A	ENST00000371692.4	+	5	1032	c.936G>A	c.(934-936)aaG>aaA	p.K312K	SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_Silent_p.K225K|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B			8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)			ACGACTTCAAGATGGCCGACC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000371692.4	1	1	hg19	CCDS7004.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	1	0	1	33	189	0	46	0	6.331121e-02	1	2	0	46	2		0	0	0	0	0	2	1	1	33	187	0	45	2								-20.000000	1	1	121348	1	32	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999805	0.990000	1	9.900000e-01	1
C9orf172	389813	broad.mit.edu	37	9	139740881	139740881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139740881G>A	ENST00000436881.1	+	1	2015	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172			9					CGCTGCCGGCGCACCGAGACC	0.701000																								0							SO:0001583	missense			ENST00000436881.1	1	1	hg19	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883763	0.33255	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	T	0.52837	0.1759	M	0.66939	2.045	0.51012	D	0.9999	B	0.32939	0.391	B	0.23419	0.046	T	0.62469	-0.6848	8	0.72032	D	0.01	-10.9499	13.5	0.61449	0.0:0.0:1.0:0.0	.	672	C9J069	CI172_HUMAN	H	672	.	ENSP00000412388:R672H	R	+	2	0	C9orf172	138860702	1.000000	0.71417	0.988000	0.46212	0.614000	0.37383	4.587000	0.60991	1.600000	0.50102	0.164000	0.16699	CGC		TCGA-IB-7651-01A-11D-2154-08	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	45	162	0	29	0	0	0	1	0	29	2		0	0	0	0	0	2	1	1	43	160	0	29	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf172	389813	broad.mit.edu	37	9	139741017	139741017	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139741017C>T	ENST00000436881.1	+	1	2151	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172			9					GCGTGGGCAGCGTGTGCCGCC	0.716000																								0							SO:0001819	synonymous_variant			ENST00000436881.1	0	1	hg19	CCDS48059.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	7	186	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.801031e-01	7	183	0	24	2								-9.683891	1	1	118158	1	28	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.420000	0.190000	0.770000	0.400000	0.453325	0.420000	0	2.900000e-01	6.000000e-01
PHPT1	29085	broad.mit.edu	37	9	139743961	139743961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743961G>A	ENST00000247665.10	+	1	416	c.79G>A	c.(79-81)Gtc>Atc	p.V27I	MAMDC4_ENST00000317446.2_5'Flank|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Missense_Mutation_p.V27I|PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1			3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)			GCTGATCCGAGTCCACTCGGC	0.647000																								0							SO:0001583	missense			ENST00000247665.10	1	1	hg19	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222829	0.58668	.	.	ENSG00000054148	ENST00000371661;ENST00000545326;ENST00000247665	.	.	.	4.23	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.67011	0.2848	M	0.62266	1.93	0.54753	D	0.999984	D;D	0.69078	0.997;0.965	D;P	0.66084	0.941;0.774	T	0.63363	-0.6654	9	0.26408	T	0.33	-4.684	10.0652	0.42299	0.1011:0.0:0.8989:0.0	.	27;27	Q9NRX4-2;Q9NRX4	.;PHP14_HUMAN	I	27	.	ENSP00000247665:V27I	V	+	1	0	PHPT1	138863782	0.998000	0.40836	0.987000	0.45799	0.401000	0.30781	1.948000	0.40303	1.004000	0.39156	-0.452000	0.05504	GTC		TCGA-IB-7651-01A-11D-2154-08	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	1	0	0	78	356	0	84	1	1	79	358	0	84	2		0	0	0	0	0	2	1	1	76	350	0	84	2								-20.000000	1	0	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHPT1	29085	broad.mit.edu	37	9	139743981	139743981	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743981C>T	ENST00000247665.10	+	1	436	c.99C>T	c.(97-99)tcC>tcT	p.S33S	MAMDC4_ENST00000317446.2_5'Flank|MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Silent_p.S33S|PHPT1_ENST00000371661.1_Silent_p.S33S	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1			3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)			CTCCCCGCTCCGGGGCTCCGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000247665.10	1	1	hg19	CCDS7009.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	1	0	0	46	414	0	84	1	1	92	459	0	84	2		0	0	0	0	0	2	1	1	46	406	0	84	2								-2.879461	1	0	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.840000	1.000000	1.000000	0.986345	0.990000	1	9.800000e-01	1
MAMDC4	158056	broad.mit.edu	37	9	139752883	139752883	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139752883C>T	ENST00000317446.2	+	22	2756	c.2706C>T	c.(2704-2706)ggC>ggT	p.G902G	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.G981G	NM_206920.2	NP_996803.2			MAM domain containing 4			19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)			GCCTGTGTGGCTGGAGCCACC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000317446.2	1	1	hg19	CCDS7010.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	1	0	1	51	226	0	52	0	0	1	0	0	52	2		0	0	0	0	0	2	1	1	48	223	0	51	2								-20.000000	1	1	120304	1	27	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRAF2	7186	broad.mit.edu	37	9	139802654	139802654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139802654C>T	ENST00000247668.2	+	5	551	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	TRAF2_ENST00000359662.3_Missense_Mutation_p.R219W|TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W|TRAF2_ENST00000482854.1_3'UTR	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2			17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)		CCGGCATTGCCGGGCACCCTG	0.682000																								0							SO:0001583	missense			ENST00000247668.2	0	1	hg19	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322261	0.60634	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.56275	0.47;1.49;1.48;1.49;1.23	4.01	-1.67	0.08238	Zinc finger, TRAF-type (1);	0.183072	0.45361	D	0.000375	T	0.59224	0.2178	L	0.53249	1.67	0.31336	N	0.684212	D;D;D;P	0.71674	0.985;0.985;0.998;0.952	D;D;D;P	0.66716	0.914;0.914;0.946;0.654	T	0.62666	-0.6806	10	0.87932	D	0	-16.9972	8.6683	0.34134	0.6951:0.1942:0.1108:0.0	.	156;167;219;167	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	W	167;167;167;191;167;219;219	ENSP00000405860:R167W;ENSP00000446414:R167W;ENSP00000406524:R167W;ENSP00000247668:R167W;ENSP00000352685:R219W	ENSP00000247668:R167W	R	+	1	2	TRAF2	138922475	0.983000	0.35010	0.180000	0.23079	0.754000	0.42855	0.787000	0.26858	-0.311000	0.08754	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	0	0	1	20	117	0	18	1	9.999902e-01	33	88	0	18	2		0	0	0	0	0	2	1	9.999962e-01	20	113	0	17	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.997850	0.990000	1	9.900000e-01	1
FBXW5	54461	broad.mit.edu	37	9	139835759	139835759	+	Silent	SNP	C	C	T	rs138768587	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139835759C>T	ENST00000325285.3	-	8	1480	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5			12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)		CGTCGTTGGGCGTGTAGGCGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000325285.3	1	1	hg19	CCDS7014.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	1	0	1	41	215	0	39	1	1	137	310	0	39	2		0	0	0	0	0	2	1	1	40	213	0	37	2								-20.000000	1	1	121106	6	36	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
FBXW5	54461	broad.mit.edu	37	9	139836053	139836053	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836053C>T	ENST00000325285.3	-	7	1259	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5			12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)		TGGTCCAGCGCGTCGAAGAAG	0.662000																								0							SO:0001583	missense			ENST00000325285.3	0	1	hg19	CCDS7014.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.45	1.352848	0.24512	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.64438	-0.1;1.64	4.09	0.713	0.18173	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.246961	0.42548	D	0.000693	T	0.40743	0.1129	L	0.29908	0.895	0.39497	D	0.968138	P;P	0.37122	0.583;0.455	B;B	0.27887	0.084;0.035	T	0.28839	-1.0031	10	0.18276	T	0.48	-13.1478	12.3652	0.55224	0.5479:0.4521:0.0:0.0	.	259;394	Q59ET5;Q969U6	.;FBXW5_HUMAN	T	394;229	ENSP00000313034:A394T;ENSP00000409102:A229T	ENSP00000313034:A394T	A	-	1	0	FBXW5	138955874	0.693000	0.27728	0.054000	0.19295	0.435000	0.31806	1.513000	0.35823	0.416000	0.25844	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	1	0	0	17	69	0	9	1	1	167	357	0	9	2		0	0	0	0	0	2	1	9.999783e-01	17	67	0	9	2								-20.000000	1	1	120746	3	29	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999376	0.990000	1	9.900000e-01	1
FBXW5	54461	broad.mit.edu	37	9	139836666	139836666	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836666G>A	ENST00000325285.3	-	6	1007	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5			12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)		CGCCCCTCCAGCACGCGGTCC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000325285.3	1	1	hg19	CCDS7014.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	1	0	1	16	59	0	13	1	9.999995e-01	39	78	0	13	2		0	0	0	0	0	2	1	9.998931e-01	15	50	0	10	2								-20.000000	1	1	119614	1	17	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999423	0.990000	1	9.900000e-01	1
PTGDS	5730	broad.mit.edu	37	9	139873509	139873509	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873509C>T	ENST00000371625.3	+	2	253	c.179C>T	c.(178-180)gCg>gTg	p.A60V	RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Missense_Mutation_p.A60V|PTGDS_ENST00000460340.1_3'UTR	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)			7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)		GAGAAGAAGGCGGCGTTGTCC	0.687000																								0							SO:0001583	missense			ENST00000371625.3	1	1	hg19	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	15.83	2.948219	0.53186	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	4.38	-0.632	0.11523	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.177410	0.06362	N	0.711815	T	0.08313	0.0207	L	0.53249	1.67	0.09310	N	1	P	0.42692	0.787	B	0.20955	0.032	T	0.40553	-0.9557	10	0.33940	T	0.23	-14.0698	9.1141	0.36746	0.5396:0.3473:0.113:0.0	.	60	P41222	PTGDS_HUMAN	V	60	ENSP00000224167:A60V;ENSP00000392633:A60V;ENSP00000360687:A60V;ENSP00000360685:A60V	ENSP00000224167:A60V	A	+	2	0	PTGDS	138993330	0.000000	0.05858	0.015000	0.15790	0.680000	0.39746	-0.207000	0.09384	-0.111000	0.12001	0.436000	0.28706	GCG		TCGA-IB-7651-01A-11D-2154-08	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	1	0	0	61	273	0	70	1	1	141	581	0	70	2		0	0	0	0	0	2	1	1	61	267	0	70	2								-3.431212	1	1	121360	1	31	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTGDS	5730	broad.mit.edu	37	9	139874451	139874451	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139874451G>A	ENST00000371625.3	+	4	459	c.385G>A	c.(385-387)Gcg>Acg	p.A129T	PTGDS_ENST00000224167.2_Missense_Mutation_p.A163T|LCNL1_ENST00000408973.2_5'Flank	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)			7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)		CGACCAGTACGCGCTGCTGTA	0.662000																								0							SO:0001583	missense			ENST00000371625.3	1	1	hg19	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.7|24.7	4.559762|4.559762	0.86335|0.86335	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625|ENST00000446677	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.178344|.	0.39146|.	N|.	0.001446|.	T|T	0.76528|0.76528	0.4000|0.4000	M|M	0.82923|0.82923	2.615|2.615	0.48571|0.48571	D|D	0.99967|0.99967	D|.	0.76494|.	0.999|.	P|.	0.59115|.	0.852|.	T|T	0.78800|0.78800	-0.2062|-0.2062	10|5	0.66056|.	D|.	0.02|.	-0.5952|-0.5952	13.7612|13.7612	0.62968|0.62968	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	129|.	P41222|.	PTGDS_HUMAN|.	T|H	163;163;129|151	ENSP00000224167:A163T;ENSP00000392633:A163T;ENSP00000360687:A129T|.	ENSP00000224167:A163T|.	A|R	+|+	1|2	0|0	PTGDS|PTGDS	138994272|138994272	0.788000|0.788000	0.28762|0.28762	0.114000|0.114000	0.21550|0.21550	0.019000|0.019000	0.09904|0.09904	2.412000|2.412000	0.44609|0.44609	2.391000|2.391000	0.81399|0.81399	0.651000|0.651000	0.88453|0.88453	GCG|CGC		TCGA-IB-7651-01A-11D-2154-08	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	1	0	1	137	660	0	152	1	1	304	430	0	152	2		0	0	0	0	0	2	1	1	136	650	0	147	2								-3.329206	1	1	121408	1	31	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA2	20	broad.mit.edu	37	9	139903232	139903232	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903232C>T	ENST00000371605.3	-	46	7163	c.7016G>A	c.(7015-7017)gGc>gAc	p.G2339D	ABCA2_ENST00000265662.5_Missense_Mutation_p.G2340D|ABCA2_ENST00000341511.6_Missense_Mutation_p.G2340D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2			41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		GCCCAGCACGCCAGACACCTG	0.647000																								0							SO:0001583	missense			ENST00000371605.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	5.457	0.269470	0.10349	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	3.89	2.88	0.33553	.	0.136424	0.47093	U	0.000249	T	0.41119	0.1145	N	0.01771	-0.73	0.37890	D	0.930681	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49652	-0.8917	10	0.02654	T	1	.	3.2538	0.06824	0.0:0.5802:0.0:0.4198	.	2339;2370	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	D	2340;2339;2370;2340;108;98	ENSP00000265662:G2340D;ENSP00000360666:G2339D;ENSP00000344155:G2340D;ENSP00000420360:G108D;ENSP00000406741:G98D	ENSP00000265662:G2340D	G	-	2	0	ABCA2	139023053	1.000000	0.71417	0.980000	0.43619	0.620000	0.37586	4.803000	0.62546	2.009000	0.58944	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	0	15	46	0	14	1	1	59	105	0	14	2		0	0	0	0	0	2	1	9.999415e-01	15	46	0	14	2								-20.000000	1	0	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999561	0.990000	1	9.900000e-01	1
ABCA2	20	broad.mit.edu	37	9	139903317	139903317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903317G>A	ENST00000371605.3	-	46	7078	c.6931C>T	c.(6931-6933)Cgg>Tgg	p.R2311W	ABCA2_ENST00000265662.5_Missense_Mutation_p.R2312W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R2312W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2			41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		GTGTGGTGCCGCTCCTGCAGG	0.672000																								0							SO:0001583	missense			ENST00000371605.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.66	3.184237	0.57800	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	3.89	2.97	0.34412	.	0.152893	0.43260	U	0.000591	D	0.89480	0.6727	M	0.76170	2.325	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.89827	0.3993	10	0.87932	D	0	.	12.308	0.54912	0.0:0.0:0.6968:0.3032	.	2311;2342	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	W	2312;2311;2342;2312;80;70	ENSP00000265662:R2312W;ENSP00000360666:R2311W;ENSP00000344155:R2312W;ENSP00000420360:R80W;ENSP00000406741:R70W	ENSP00000265662:R2312W	R	-	1	2	ABCA2	139023138	0.993000	0.37304	0.995000	0.50966	0.362000	0.29581	0.771000	0.26633	0.820000	0.34516	0.491000	0.48974	CGG		TCGA-IB-7651-01A-11D-2154-08	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	0	22	78	0	23	1	9.999999e-01	34	83	0	23	2		0	0	0	0	0	2	1	9.999994e-01	22	75	0	23	2								-20.000000	1	0	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999926	0.990000	1	9.900000e-01	1
ABCA2	20	broad.mit.edu	37	9	139904272	139904272	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139904272C>T	ENST00000371605.3	-	42	6723	c.6576G>A	c.(6574-6576)cgG>cgA	p.R2192R	ABCA2_ENST00000265662.5_Silent_p.R2193R|ABCA2_ENST00000341511.6_Silent_p.R2193R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2			41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		TGGAGAGCTTCCGCTTGTTGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000371605.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	30	130	0	27	1	1	30	119	0	27	2		0	0	0	0	0	2	1	1	30	125	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
ABCA2	20	broad.mit.edu	37	9	139907734	139907734	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139907734G>A	ENST00000371605.3	-	29	4731	c.4584C>T	c.(4582-4584)ctC>ctT	p.L1528L	ABCA2_ENST00000265662.5_Silent_p.L1529L|ABCA2_ENST00000341511.6_Silent_p.L1529L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2			41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		ACGTGCTCACGAGCTGCTGGG	0.736000																								0							SO:0001819	synonymous_variant			ENST00000371605.3	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	0	16	64	0	10	1	9.374967e-01	9	13	0	10	2		0	0	0	0	0	2	1	9.999565e-01	15	63	0	9	2								-20.000000	1	1	114768	3	27	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999211	0.990000	1	9.900000e-01	1
ABCA2	20	broad.mit.edu	37	9	139911650	139911650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139911650C>T	ENST00000371605.3	-	17	2695	c.2548G>A	c.(2548-2550)Gcg>Acg	p.A850T	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Missense_Mutation_p.A851T|ABCA2_ENST00000341511.6_Missense_Mutation_p.A851T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2			41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		ACCCTCACCGCGATGCACTTC	0.637000																								0							SO:0001583	missense			ENST00000371605.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.8	4.575579	0.86645	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.84873	-1.91;-1.91;-1.91	4.08	4.08	0.47627	.	0.198498	0.42821	U	0.000653	D	0.90157	0.6924	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.81914	0.995;0.881	D	0.91129	0.4936	10	0.59425	D	0.04	.	16.451	0.83990	0.0:1.0:0.0:0.0	.	850;881	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	T	851;850;881;851	ENSP00000265662:A851T;ENSP00000360666:A850T;ENSP00000344155:A851T	ENSP00000265662:A851T	A	-	1	0	ABCA2	139031471	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	7.530000	0.81962	2.116000	0.64780	0.313000	0.20887	GCG		TCGA-IB-7651-01A-11D-2154-08	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	74	371	0	75	1	9.999897e-01	22	63	0	75	2		0	0	0	0	0	2	1	1	71	365	0	69	2								-3.335909	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ABCA2	20	broad.mit.edu	37	9	139912431	139912431	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139912431C>T	ENST00000371605.3	-	14	2234	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Missense_Mutation_p.R697H|ABCA2_ENST00000341511.6_Missense_Mutation_p.R697H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2			41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		TCACTCATCGCGTGTGTAGCA	0.642000																								0							SO:0001583	missense			ENST00000371605.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	20.8	4.049685	0.75846	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.94497	-3.44;-3.44;-3.44	3.35	3.35	0.38373	.	0.146870	0.42294	U	0.000739	D	0.94013	0.8082	N	0.17800	0.525	0.53005	D	0.999966	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.944	D	0.94289	0.7527	10	0.48119	T	0.1	.	15.2097	0.73209	0.0:1.0:0.0:0.0	.	696;727	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	H	697;696;727;697	ENSP00000265662:R697H;ENSP00000360666:R696H;ENSP00000344155:R697H	ENSP00000265662:R697H	R	-	2	0	ABCA2	139032252	0.488000	0.25996	0.778000	0.31720	0.505000	0.33919	4.466000	0.60148	1.880000	0.54463	0.306000	0.20318	CGC		TCGA-IB-7651-01A-11D-2154-08	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	0	37	169	0	47	1	9.998333e-01	12	52	0	47	2		0	0	0	0	0	2	1	1	37	167	0	46	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
ABCA2	20	broad.mit.edu	37	9	139914880	139914880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139914880G>A	ENST00000371605.3	-	9	1477	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Missense_Mutation_p.R445W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2			41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		CCCAGGTTCCGCTGCTCCTTG	0.677000																								0							SO:0001583	missense			ENST00000371605.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323890|4.323890	0.81580|0.81580	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000470535|ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.|D;D;D	.|0.89617	.|-2.54;-2.54;-2.54	4.64|4.64	3.7|3.7	0.42460|0.42460	.|.	.|0.149744	.|0.43260	.|U	.|0.000598	D|D	0.92691|0.92691	0.7677|0.7677	M|M	0.65975|0.65975	2.015|2.015	0.50039|0.50039	D|D	0.999845|0.999845	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76071	.|0.987;0.987;0.987	D|D	0.93110|0.93110	0.6516|0.6516	5|10	.|0.87932	.|D	.|0	.|.	11.9976|11.9976	0.53212|0.53212	0.0:0.0:0.6897:0.3103|0.0:0.0:0.6897:0.3103	.|.	.|444;474;475	.|Q9BZC7;E7EU84;E7ETC3	.|ABCA2_HUMAN;.;.	V|W	55|445;444;475;445	.|ENSP00000265662:R445W;ENSP00000360666:R444W;ENSP00000344155:R445W	.|ENSP00000265662:R445W	A|R	-|-	2|1	0|2	ABCA2|ABCA2	139034701|139034701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.091000|3.091000	0.50199|0.50199	2.113000|2.113000	0.64589|0.64589	0.462000|0.462000	0.41574|0.41574	GCG|CGG		TCGA-IB-7651-01A-11D-2154-08	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		1	0	1	63	354	0	64	1	9.992426e-01	9	53	0	64	2		0	0	0	0	0	2	1	1	62	351	0	63	2								-3.321290	1	1	120840	2	29	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FUT7	2529	broad.mit.edu	37	9	139925490	139925490	+	Missense_Mutation	SNP	C	C	T	rs141846761	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139925490C>T	ENST00000314412.6	-	2	1719	c.701G>A	c.(700-702)cGc>cAc	p.R234H	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_5'Flank|ABCA2_ENST00000371605.3_5'Flank|C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000341511.6_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)			8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)		AATGTAGTCGCGGTGCTGAGA	0.637000																								0							SO:0001583	missense			ENST00000314412.6	1	0	hg19	CCDS7022.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	6.822	0.520860	0.13005	4.54E-4	0.00186	ENSG00000180549	ENST00000314412	T	0.27720	1.65	4.68	-2.59	0.06209	.	0.653039	0.15388	U	0.264965	T	0.27663	0.0680	M	0.75150	2.29	0.21802	N	0.999538	B	0.16166	0.016	B	0.18871	0.023	T	0.28744	-1.0034	10	0.42905	T	0.14	-3.4242	6.4767	0.22039	0.0:0.3934:0.3311:0.2755	.	234	Q11130	FUT7_HUMAN	H	234	ENSP00000318142:R234H	ENSP00000318142:R234H	R	-	2	0	FUT7	139045311	0.000000	0.05858	0.017000	0.16124	0.145000	0.21501	-0.730000	0.04915	-0.194000	0.10399	-0.477000	0.04895	CGC		TCGA-IB-7651-01A-11D-2154-08	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	0	0	1	233	1094	0	229	0	3.111051e-02	0	2	0	229	2		0	0	0	0	0	2	1	1	232	1085	0	228	2								-4.413611	1	1	121230	198	59	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139929414G>A	ENST00000314330.2	+	3	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139			3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)		GGGTCAGAACGAAAGCCTCTC	0.632000																								0							SO:0001583	missense			ENST00000314330.2	1	1	hg19	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	g	13.60	2.285647	0.40394	.	.	ENSG00000180539	ENST00000314330	T	0.54675	0.56	2.64	0.667	0.17907	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	P	0.44090	0.826	B	0.33846	0.171	T	0.12682	-1.0538	9	0.87932	D	0	.	5.1043	0.14775	0.3008:0.0:0.6992:0.0	.	161	Q6ZV77	CI139_HUMAN	K	161	ENSP00000318119:E161K	ENSP00000318119:E161K	E	+	1	0	C9orf139	139049235	0.001000	0.12720	0.001000	0.08648	0.302000	0.27658	0.219000	0.17641	0.169000	0.19679	0.290000	0.19541	GAA		TCGA-IB-7651-01A-11D-2154-08	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	1	0	1	91	485	0	123	0	2.556609e-02	0	2	0	123	2		0	0	0	0	0	2	1	1	90	479	0	120	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DPP7	29952	broad.mit.edu	37	9	140005399	140005399	+	Missense_Mutation	SNP	G	G	A	rs149094336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140005399G>A	ENST00000371579.2	-	12	1280	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7			7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)		AGGTTCCTCCGAATCTGTGGT	0.652000																								0							SO:0001583	missense			ENST00000371579.2	1	1	hg19	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699278	0.48307	0.001365	0.0	ENSG00000176978	ENST00000371579	D	0.92299	-3.01	4.72	3.71	0.42584	.	0.988395	0.08220	N	0.979309	D	0.89125	0.6626	L	0.57536	1.79	0.09310	N	1	D	0.56035	0.974	B	0.37943	0.261	T	0.81420	-0.0941	10	0.49607	T	0.09	-3.1443	11.0004	0.47602	0.0:0.0:0.7615:0.2385	.	426	Q9UHL4	DPP2_HUMAN	W	426	ENSP00000360635:R426W	ENSP00000360635:R426W	R	-	1	2	DPP7	139125220	0.014000	0.17966	0.008000	0.14137	0.018000	0.09664	1.387000	0.34430	2.169000	0.68431	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	1	0	1	23	122	0	26	1	1	126	340	0	26	2		0	0	0	0	0	2	1	9.999996e-01	24	120	0	26	2								-3.306250	1	1	121330	25	42	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999371	0.990000	1	9.900000e-01	1
GRIN1	2902	broad.mit.edu	37	9	140057086	140057086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140057086G>A	ENST00000371561.3	+	14	3005	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCATGGTGTGGGCCGGCTTTG	0.701000													NSCLC(113;717 1653 2089 20474 37618)											0							SO:0001587	stop_gained			ENST00000371561.3	0	1	hg19	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	g	40	8.208381	0.98706	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	.	.	.	4.54	4.54	0.55810	.	0.185434	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8918	0.79305	0.0:0.0:1.0:0.0	.	.	.	.	X	636;636;636;636;657;657;657;636;657	.	ENSP00000316696:W636X	W	+	3	0	GRIN1	139176907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.543000	0.82106	2.093000	0.63338	0.450000	0.29827	TGG		TCGA-IB-7651-01A-11D-2154-08	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	1	0	0	19	109	0	25	0	1.745688e-01	0	5	0	25	2		0	0	0	0	0	2	1	9.999945e-01	19	109	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.980000	1.000000	1.000000	0.997715	0.990000	1	9.900000e-01	1
ANAPC2	29882	broad.mit.edu	37	9	140069809	140069809	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069809G>T	ENST00000323927.2	-	12	2140	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	ANAPC2_ENST00000487917.1_5'UTR|TMEM210_ENST00000413619.2_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		TGACAGAGAAGGTGCCGGGGG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000323927.2	1	1	hg19	CCDS7033.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	1	0	1	27	136	0	28	1	9.998543e-01	18	56	0	28	2		0	0	0	0	0	2	1	1	27	135	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999814	0.990000	1	9.900000e-01	1
ANAPC2	29882	broad.mit.edu	37	9	140069920	140069920	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069920G>T	ENST00000323927.2	-	12	2029	c.2025C>A	c.(2023-2025)agC>agA	p.S675R	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		CCAGGGTCCAGCTGGCTGCGT	0.721000																								0							SO:0001583	missense			ENST00000323927.2	0	1	hg19	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284595	0.23392	.	.	ENSG00000176248	ENST00000323927	T	0.73897	-0.79	4.42	3.53	0.40419	Cullin, N-terminal (1);Cullin homology (2);	0.332246	0.33712	N	0.004630	T	0.47507	0.1449	N	0.04335	-0.225	0.45676	D	0.998596	B;B	0.14012	0.009;0.007	B;B	0.20384	0.029;0.017	T	0.26121	-1.0112	10	0.20519	T	0.43	-19.6738	6.1082	0.20086	0.1034:0.1904:0.7061:0.0	.	675;672	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	R	675	ENSP00000314004:S675R	ENSP00000314004:S675R	S	-	3	2	ANAPC2	139189741	1.000000	0.71417	0.997000	0.53966	0.748000	0.42578	0.928000	0.28831	1.074000	0.40909	0.555000	0.69702	AGC		TCGA-IB-7651-01A-11D-2154-08	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	1	0	0	12	39	0	8	1	9.999970e-01	18	82	0	8	2		0	0	0	0	0	2	1	9.995036e-01	12	39	0	8	2								-19.999980	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.998487	0.990000	1	9.900000e-01	1
ANAPC2	29882	broad.mit.edu	37	9	140082017	140082017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140082017G>A	ENST00000323927.2	-	2	660	c.656C>T	c.(655-657)cCg>cTg	p.P219L	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		TGCACACAGCGGGCTCTGCAG	0.627000																								0							SO:0001583	missense			ENST00000323927.2	1	1	hg19	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453188	0.12283	.	.	ENSG00000176248	ENST00000323927	T	0.03663	3.85	5.09	4.09	0.47781	.	0.243014	0.42964	D	0.000629	T	0.03053	0.0090	N	0.22421	0.69	0.44409	D	0.997329	B;B	0.12013	0.003;0.005	B;B	0.08055	0.001;0.003	T	0.52034	-0.8629	10	0.25751	T	0.34	-28.5775	11.4869	0.50358	0.0:0.0:0.8082:0.1918	.	219;219	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	L	219	ENSP00000314004:P219L	ENSP00000314004:P219L	P	-	2	0	ANAPC2	139201838	0.408000	0.25360	0.953000	0.39169	0.790000	0.44656	0.625000	0.24477	2.365000	0.80145	0.561000	0.74099	CCG		TCGA-IB-7651-01A-11D-2154-08	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	1	0	1	107	507	0	104	1	9.999992e-01	35	60	0	104	2		0	0	0	0	0	2	1	1	103	496	0	101	2								-2.531484	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDOR1	27158	broad.mit.edu	37	9	140109118	140109118	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109118C>A	ENST00000344894.5	+	7	902	c.819C>A	c.(817-819)ctC>ctA	p.L273L	NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L|NDOR1_ENST00000371521.4_Silent_p.L273L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		CTGACCAGCTCTTCATGCTGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000344894.5	1	1	hg19	CCDS7036.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	1	0	1	60	250	0	55	1	9.890371e-01	7	25	0	55	2		0	0	0	0	0	2	1	1	60	249	0	53	2								-3.547953	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDOR1	27158	broad.mit.edu	37	9	140109572	140109572	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109572C>A	ENST00000344894.5	+	9	1174	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D|NDOR1_ENST00000371521.4_Missense_Mutation_p.A364D	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		CCGCACACAGCTGCCGCCATC	0.652000																								0							SO:0001583	missense			ENST00000344894.5	1	1	hg19	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503587	0.64298	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.57	4.57	0.56435	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.055734	0.64402	D	0.000001	T	0.71913	0.3396	L	0.56769	1.78	0.44908	D	0.997925	D;B;P;D	0.53151	0.958;0.367;0.948;0.958	P;B;P;P	0.57468	0.821;0.14;0.726;0.821	T	0.73943	-0.3823	10	0.49607	T	0.09	-13.2222	16.2661	0.82579	0.0:1.0:0.0:0.0	.	364;330;364;364	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	D	364;330;364;364	ENSP00000389905:A364D;ENSP00000394309:A330D;ENSP00000360576:A364D;ENSP00000343344:A364D	ENSP00000343344:A364D	A	+	2	0	NDOR1	139229393	0.971000	0.33674	0.051000	0.19133	0.087000	0.18053	4.374000	0.59543	2.249000	0.74217	0.561000	0.74099	GCT		TCGA-IB-7651-01A-11D-2154-08	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	0	0	0	7	161	0	42	0	6.400783e-01	0	49	0	42	2		0	0	0	0	0	2	1	9.813075e-01	7	161	0	42	2								-9.682661	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.490000	0.220000	0.880000	0.460000	0.516763	0.490000	0	3.300000e-01	6.800000e-01
NDOR1	27158	broad.mit.edu	37	9	140110152	140110152	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110152G>A	ENST00000344894.5	+	11	1413	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T|NDOR1_ENST00000371521.4_Missense_Mutation_p.A444T	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		TGGGAGTCTGGCCTTCCCAGA	0.642000																								0							SO:0001583	missense			ENST00000344894.5	1	1	hg19	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770454	0.15983	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.03242	4.27;4.0;4.24;4.24	4.68	0.973	0.19710	Ferredoxin reductase-type FAD-binding domain (1);	0.403386	0.25701	N	0.028879	T	0.01156	0.0038	N	0.00666	-1.275	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.47275	-0.9130	10	0.37606	T	0.19	-18.318	7.1715	0.25721	0.6166:0.0:0.3834:0.0	.	437;410;444;444	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	T	437;410;444;444	ENSP00000389905:A437T;ENSP00000394309:A410T;ENSP00000360576:A444T;ENSP00000343344:A444T	ENSP00000343344:A444T	A	+	1	0	NDOR1	139229973	0.846000	0.29590	0.432000	0.26747	0.903000	0.53119	1.231000	0.32624	0.298000	0.22638	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	0	0	1	80	349	0	75	1	9.429670e-01	10	13	0	75	2		0	0	0	0	0	2	1	1	79	344	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NDOR1	27158	broad.mit.edu	37	9	140110839	140110839	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110839C>T	ENST00000344894.5	+	14	1848	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W|NDOR1_ENST00000427047.2_3'UTR|NDOR1_ENST00000371521.4_Missense_Mutation_p.R598W	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		CCAGCAGACACGGCGCTTCCA	0.682000																								0							SO:0001583	missense			ENST00000344894.5	1	1	hg19	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662550	0.29515	.	.	ENSG00000188566	ENST00000458322;ENST00000371521;ENST00000344894	T;T;T	0.78924	-1.22;-1.22;-1.22	3.93	-0.989	0.10242	.	0.777035	0.11604	N	0.547504	D	0.82518	0.5054	M	0.85945	2.785	0.09310	N	1	D;D;D	0.69078	0.995;0.997;0.989	P;P;P	0.54924	0.586;0.764;0.586	T	0.72107	-0.4390	10	0.72032	D	0.01	-4.7404	6.1079	0.20084	0.4665:0.4318:0.0:0.1017	.	582;598;589	D3YTG6;Q9UHB4-2;Q9UHB4	.;.;NDOR1_HUMAN	W	582;598;589	ENSP00000389905:R582W;ENSP00000360576:R598W;ENSP00000343344:R589W	ENSP00000343344:R589W	R	+	1	2	NDOR1	139230660	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	-0.438000	0.06905	-0.003000	0.14444	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	1	0	1	42	218	0	63	1	9.966114e-01	13	35	0	63	2		0	0	0	0	0	2	1	1	42	216	0	59	2								-20.000000	1	0	121266	2	35	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
RNF208	727800	broad.mit.edu	37	9	140115570	140115570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140115570G>A	ENST00000392827.1	-	2	263	c.95C>T	c.(94-96)gCc>gTc	p.A32V	RNF208_ENST00000391553.1_Missense_Mutation_p.A32V			Q9H0X6	RN208_HUMAN	ring finger protein 208			1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		AATCTTCATGGCCTCCATCTT	0.672000																								0							SO:0001583	missense			ENST00000392827.1	0	1	hg19	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	g	16.65	3.183072	0.57800	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.36157	1.27;1.27	4.25	3.28	0.37604	.	.	.	.	.	T	0.24198	0.0586	N	0.14661	0.345	0.33036	D	0.53082	B	0.33612	0.419	B	0.35353	0.201	T	0.42032	-0.9475	9	0.87932	D	0	-12.8448	11.4687	0.50254	0.0:0.0:0.8194:0.1805	.	32	Q9H0X6	RN208_HUMAN	V	32	ENSP00000376572:A32V;ENSP00000375397:A32V	ENSP00000375397:A32V	A	-	2	0	RNF208	139235391	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.320000	0.59203	1.915000	0.55452	0.556000	0.70494	GCC		TCGA-IB-7651-01A-11D-2154-08	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	1	0	0	14	70	0	13	1	8.868525e-01	4	18	0	13	2		0	0	0	0	0	2	1	9.998427e-01	14	70	0	13	2								-19.999970	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.950000	1.000000	1.000000	0.996652	0.990000	1	9.900000e-01	1
SLC34A3	142680	broad.mit.edu	37	9	140128134	140128134	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128134G>T	ENST00000538474.1	+	8	1030	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3			13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		GCCACTAACAGCAGTCTCATT	0.627000																								0							SO:0001583	missense			ENST00000538474.1	1	1	hg19	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	7.457	0.643950	0.14451	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.32753	1.44;1.44	3.05	2.13	0.27403	.	0.761983	0.11378	N	0.570085	T	0.23330	0.0564	L	0.47190	1.495	0.24118	N	0.995812	P	0.38335	0.627	B	0.31614	0.133	T	0.10823	-1.0613	10	0.54805	T	0.06	-3.5643	7.8826	0.29631	0.1326:0.0:0.8674:0.0	.	269	Q8N130	NPT2C_HUMAN	I	269	ENSP00000442397:S269I;ENSP00000355353:S269I	ENSP00000355353:S269I	S	+	2	0	SLC34A3	139247955	0.937000	0.31787	0.618000	0.29105	0.024000	0.10985	2.459000	0.45023	0.591000	0.29711	0.462000	0.41574	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	1	0	0	60	464	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	60	455	0	119	2								-19.988980	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999088	0.990000	1	9.900000e-01	1
SLC34A3	142680	broad.mit.edu	37	9	140128878	140128878	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128878C>T	ENST00000538474.1	+	11	1328	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC34A3_ENST00000361134.2_Silent_p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3			13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		ACTTCCCCTTCCCGCTGGGCT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000538474.1	1	1	hg19	CCDS7038.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	1	0	0	33	121	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1	30	102	0	23	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
SLC34A3	142680	broad.mit.edu	37	9	140130446	140130446	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140130446C>A	ENST00000538474.1	+	13	1602	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3			13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		CGGCATCCTGCTGTGGTACCT	0.697000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000538474.1	1	1	hg19	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725024	0.48833	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.88277	-2.36;-2.36	4.11	1.11	0.20524	.	0.148979	0.29321	N	0.012482	D	0.90417	0.7000	M	0.74258	2.255	0.28738	N	0.902132	D	0.56287	0.975	P	0.57720	0.826	D	0.84038	0.0363	10	0.87932	D	0	-4.6612	4.7646	0.13127	0.1719:0.6313:0.0:0.1968	.	460	Q8N130	NPT2C_HUMAN	M	460	ENSP00000442397:L460M;ENSP00000355353:L460M	ENSP00000355353:L460M	L	+	1	2	SLC34A3	139250267	0.990000	0.36364	0.886000	0.34754	0.730000	0.41778	0.730000	0.26043	0.124000	0.18369	0.407000	0.27541	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	1	0	1	91	453	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1	90	447	0	115	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM166A	401565	broad.mit.edu	37	9	140138683	140138683	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140138683G>T	ENST00000344774.4	-	6	859	c.805C>A	c.(805-807)Ccc>Acc	p.P269T		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A			15					TGGTTGCTGGGCCAGTGTGTT	0.607000																								0							SO:0001583	missense			ENST00000344774.4	1	1	hg19	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685172	0.47991	.	.	ENSG00000188163	ENST00000344774	.	.	.	4.99	4.99	0.66335	.	0.080970	0.50627	D	0.000108	T	0.74099	0.3672	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70543	-0.4843	9	0.28530	T	0.3	-18.8756	16.0952	0.81114	0.0:0.0:1.0:0.0	.	269	Q6J272	F166A_HUMAN	T	269	.	ENSP00000344729:P269T	P	-	1	0	FAM166A	139258504	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	6.678000	0.74508	2.474000	0.83562	0.549000	0.68633	CCC		TCGA-IB-7651-01A-11D-2154-08	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	1	0	0	18	256	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	9.999829e-01	18	253	0	58	2								-19.983100	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.740000	0.460000	1.000000	1.000000	0.759208	0.740000	0	5.900000e-01	9.300000e-01
FAM166A	401565	broad.mit.edu	37	9	140139905	140139905	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140139905G>T	ENST00000344774.4	-	3	430	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A			15					CCTGCAGGCAGCAGAATCTGT	0.622000																								0							SO:0001583	missense			ENST00000344774.4	1	1	hg19	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	3.635	-0.074671	0.07184	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	3.29	0.37713	.	0.996122	0.08132	N	0.993040	T	0.42810	0.1219	M	0.67953	2.075	0.09310	N	1	P	0.48911	0.917	B	0.41988	0.372	T	0.23190	-1.0195	9	0.38643	T	0.18	-2.6202	8.3479	0.32284	0.0:0.1705:0.6527:0.1767	.	126	Q6J272	F166A_HUMAN	M	126;126;153	.	ENSP00000344729:L126M	L	-	1	2	FAM166A	139259726	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.677000	0.25262	0.520000	0.28426	0.561000	0.74099	CTG		TCGA-IB-7651-01A-11D-2154-08	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	1	0	0	30	645	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	31	635	0	111	2								-4.756504	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.500000	0.340000	0.690000	0.500000	0.517625	0.500000	0	4.200000e-01	6.000000e-01
C9orf173	441476	broad.mit.edu	37	9	140146307	140146307	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140146307G>T	ENST00000412566.1	+	2	237	c.228G>T	c.(226-228)caG>caT	p.Q76H	C9orf173_ENST00000388931.3_Missense_Mutation_p.Q76H			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173			8					GCACCCCCCAGGAGTCCCTGC	0.647000																								0							SO:0001583	missense			ENST00000412566.1	0	1	hg19	CCDS48065.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170606	0.38315	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.47528	0.84;0.86	3.79	-0.842	0.10748	.	1.853770	0.03291	N	0.187588	T	0.33585	0.0868	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.11235	0.001;0.004;0.004;0.004	B;B;B;B	0.08055	0.001;0.003;0.003;0.002	T	0.17961	-1.0352	10	0.51188	T	0.08	1.329	2.382	0.04357	0.1111:0.3402:0.3604:0.1883	.	76;76;76;76	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	H	76	ENSP00000373583:Q76H;ENSP00000391218:Q76H	ENSP00000373583:Q76H	Q	+	3	2	C9orf173	139266128	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.163000	0.16520	-0.275000	0.09219	0.561000	0.74099	CAG		TCGA-IB-7651-01A-11D-2154-08	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	4	60	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	8.888247e-01	4	59	0	13	2								-8.624546	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.730000	0.260000	1.000000	1.000000	0.724716	0.730000	0	4.500000e-01	1
EXD3	54932	broad.mit.edu	37	9	140201415	140201415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140201415C>T	ENST00000340951.4	-	22	2813	c.2618G>A	c.(2617-2619)aGc>aAc	p.S873N	EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3			12					GAAGGGACTGCTGGCCGGGCT	0.652000																								0							SO:0001583	missense			ENST00000340951.4	1	1	hg19	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346028	0.41599	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.66815	-0.23;0.66	2.84	2.84	0.33178	.	.	.	.	.	T	0.51483	0.1677	L	0.29908	0.895	0.09310	N	1	P;P	0.46912	0.886;0.818	B;B	0.41174	0.349;0.257	T	0.32640	-0.9899	9	0.27082	T	0.32	.	9.2217	0.37382	0.0:1.0:0.0:0.0	.	511;873	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	511;873	ENSP00000343705:S511N;ENSP00000340474:S873N	ENSP00000340474:S873N	S	-	2	0	EXD3	139321236	0.000000	0.05858	0.019000	0.16419	0.185000	0.23345	0.565000	0.23578	1.576000	0.49790	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	1	0	1	30	156	0	23	1	7.405748e-02	2	1	0	23	2		0	0	0	0	0	2	1	1	29	150	0	21	2								-4.216111	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999869	0.990000	1	9.900000e-01	1
EXD3	54932	broad.mit.edu	37	9	140218237	140218237	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140218237C>A	ENST00000340951.4	-	19	2319	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3			12					TGAGCACAGCCTTGGCCTGCT	0.667000																								0							SO:0001583	missense			ENST00000340951.4	1	1	hg19	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833936	0.16820	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.65364	-0.15;0.65	3.9	0.306	0.15806	.	0.652919	0.14754	N	0.300382	T	0.66247	0.2770	M	0.63843	1.955	0.09310	N	1	D;D	0.60160	0.979;0.987	P;P	0.58520	0.785;0.84	T	0.54814	-0.8237	10	0.45353	T	0.12	.	5.5666	0.17175	0.0:0.499:0.2567:0.2443	.	359;708	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	359;708	ENSP00000343705:K359N;ENSP00000340474:K708N	ENSP00000340474:K708N	K	-	3	2	EXD3	139338058	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.033000	0.13754	0.112000	0.17975	0.305000	0.20034	AAG		TCGA-IB-7651-01A-11D-2154-08	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	0	0	0	72	271	1	44	1	7.048501e-01	4	7	1	44	2		0	0	0	0	0	2	1	1	72	268	1	43	23								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EXD3	54932	broad.mit.edu	37	9	140267392	140267392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140267392C>T	ENST00000340951.4	-	5	622	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	EXD3_ENST00000479452.1_Missense_Mutation_p.V143I|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3			12					AGGCGGTGGACGTGTGCCAGC	0.667000																								0							SO:0001583	missense			ENST00000340951.4	1	1	hg19	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183685	0.01620	.	.	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.52526	0.66;1.15	4.3	-1.78	0.07957	.	0.535908	0.19500	N	0.112760	T	0.28863	0.0716	L	0.43152	1.355	0.18873	N	0.999988	B;B	0.31968	0.195;0.349	B;B	0.17722	0.008;0.019	T	0.17471	-1.0368	10	0.19590	T	0.45	.	8.4683	0.32969	0.0:0.5041:0.0:0.4959	.	143;143	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	I	143	ENSP00000340474:V143I;ENSP00000431859:V143I	ENSP00000340474:V143I	V	-	1	0	EXD3	139387213	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.175000	0.09825	-0.873000	0.04032	0.313000	0.20887	GTC		TCGA-IB-7651-01A-11D-2154-08	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	1	0	0	18	281	0	63	0	3.377819e-01	1	18	0	63	2		0	0	0	0	0	2	1	9.999831e-01	18	279	0	62	2								-19.940430	1	0	120798	2	30	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.680000	0.420000	1.000000	1.000000	0.702428	0.680000	0	5.400000e-01	8.500000e-01
ENTPD8	377841	broad.mit.edu	37	9	140329483	140329483	+	Silent	SNP	C	C	T	rs140934866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140329483C>T	ENST00000472938.1	-	9	1387	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	ENTPD8_ENST00000371506.2_Silent_p.P457P|ENTPD8_ENST00000344119.2_Silent_p.P420P			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8			7	all_cancers(76;0.0926)				GCCACTGAGCCGGCGCATCGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000472938.1	1	1	hg19	CCDS43913.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	1	0	1	35	123	0	36	1	8.716760e-01	13	2	0	36	2		0	0	0	0	0	2	1	1	33	108	0	26	2								-20.000000	1	1	121114	7	39	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ENTPD8	377841	broad.mit.edu	37	9	140330977	140330977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140330977A>G	ENST00000472938.1	-	5	798	c.782T>C	c.(781-783)gTa>gCa	p.V261A	ENTPD8_ENST00000371506.2_Missense_Mutation_p.V261A|ENTPD8_ENST00000344119.2_Missense_Mutation_p.V261A			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8			7	all_cancers(76;0.0926)				GCTGACCTGTACCAGCCCCAC	0.662000																								0							SO:0001583	missense			ENST00000472938.1	0	1	hg19	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353960	0.24512	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12984	2.63;2.63;2.63	3.99	-2.05	0.07321	.	0.621973	0.13266	N	0.400894	T	0.09069	0.0224	L	0.50847	1.595	0.22639	N	0.998904	B;B	0.14012	0.005;0.009	B;B	0.17979	0.013;0.02	T	0.36962	-0.9726	10	0.21014	T	0.42	8.9172	1.613	0.02698	0.4808:0.1314:0.2591:0.1287	.	261;261	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	A	261	ENSP00000344089:V261A;ENSP00000360561:V261A;ENSP00000420531:V261A	ENSP00000344089:V261A	V	-	2	0	ENTPD8	139450798	0.000000	0.05858	0.825000	0.32803	0.036000	0.12997	-0.289000	0.08365	-0.149000	0.11215	0.379000	0.24179	GTA		TCGA-IB-7651-01A-11D-2154-08	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	0	0	0	10	40	0	13	1	3.715275e-01	4	2	0	13	2		0	0	0	0	0	2	1	9.978692e-01	10	40	0	13	2								-19.498070	1	0	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.920000	1.000000	1.000000	0.994954	0.990000	1	9.900000e-01	1
ENTPD8	377841	broad.mit.edu	37	9	140331021	140331021	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140331021G>A	ENST00000472938.1	-	5	754	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ENTPD8_ENST00000371506.2_Silent_p.C246C|ENTPD8_ENST00000344119.2_Silent_p.C246C			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8			7	all_cancers(76;0.0926)				CCCGTCCAAAGCACAGGTAGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000472938.1	1	0	hg19	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644662	0.29246	.	.	ENSG00000188833	ENST00000493135	T	0.48201	0.82	4.36	4.36	0.52297	.	.	.	.	.	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64854	-0.6309	6	0.52906	T	0.07	-2.6203	15.6194	0.76793	0.0:0.0:1.0:0.0	.	.	.	.	F	221	ENSP00000420099:L221F	ENSP00000420099:L221F	L	-	1	0	ENTPD8	139450842	1.000000	0.71417	0.982000	0.44146	0.455000	0.32408	3.237000	0.51344	2.257000	0.74773	0.462000	0.41574	CTT		TCGA-IB-7651-01A-11D-2154-08	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	0	0	1	13	71	0	18	1	5.891366e-01	10	2	0	18	2		0	0	0	0	0	2	1	9.996538e-01	13	70	0	18	2								-19.999220	1	0	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.890000	1.000000	1.000000	0.993955	0.990000	1	9.900000e-01	1
PNPLA7	375775	broad.mit.edu	37	9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140361890G>A	ENST00000277531.4	-	25	3029	c.2843C>T	c.(2842-2844)gCg>gTg	p.A948V	PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A973V|PNPLA7_ENST00000492278.1_5'UTR	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7			40	all_cancers(76;0.126)				GCCGCACTCCGCCAAGGCCTT	0.652000																								0							SO:0001583	missense			ENST00000277531.4	1	1	hg19	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510093	0.12883	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.41	3.23	0.37069	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.200670	0.05642	N	0.583553	T	0.67021	0.2849	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.21071	0.051;0.009;0.004;0.0	B;B;B;B	0.18561	0.022;0.006;0.004;0.002	T	0.55780	-0.8087	10	0.51188	T	0.08	-3.1521	6.744	0.23451	0.3414:0.0:0.6586:0.0	.	356;973;948;214	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	554;356;948;973;948;939	ENSP00000360512:A554V;ENSP00000360501:A356V;ENSP00000277531:A948V;ENSP00000384610:A973V;ENSP00000400582:A939V	ENSP00000277531:A948V	A	-	2	0	PNPLA7	139481711	0.000000	0.05858	0.033000	0.17914	0.004000	0.04260	-0.060000	0.11712	1.279000	0.44446	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	0	16	337	0	69	0	1.791018e-01	0	16	0	69	2		0	0	0	0	0	2	1	9.999348e-01	16	335	0	68	2								-3.211409	1	1	121350	3	32	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.520000	0.310000	0.790000	0.510000	0.536896	0.520000	0	4.000000e-01	6.600000e-01
PNPLA7	375775	broad.mit.edu	37	9	140374823	140374823	+	Missense_Mutation	SNP	G	G	A	rs150851825	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140374823G>A	ENST00000277531.4	-	22	2632	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R841C|PNPLA7_ENST00000492278.1_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	p.R816C(1)		40	all_cancers(76;0.126)				TCGGCCTGGCGCACGCAGCGC	0.687000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000277531.4	1	1	hg19	CCDS7045.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.13	3.767715	0.69878	2.27E-4	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.82446	-0.0453	10	0.87932	D	0	-35.0242	13.7651	0.62990	0.0:0.0:0.8462:0.1538	.	224;841;816;82	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	C	422;224;816;841;816;807	ENSP00000360512:R422C;ENSP00000360501:R224C;ENSP00000277531:R816C;ENSP00000384610:R841C;ENSP00000400582:R807C	ENSP00000277531:R816C	R	-	1	0	PNPLA7	139494644	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	5.202000	0.65169	2.280000	0.76307	0.313000	0.20887	CGC		TCGA-IB-7651-01A-11D-2154-08	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1	42	256	0	53	0	1.538994e-01	1	4	0	53	2		0	0	0	0	0	2	1	1	42	252	0	52	2								-20.000000	1	1	121382	4	36	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999894	0.990000	1	9.900000e-01	1
PNPLA7	375775	broad.mit.edu	37	9	140392624	140392624	+	Missense_Mutation	SNP	G	G	A	rs148776350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140392624G>A	ENST00000277531.4	-	16	1942	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R611W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7			40	all_cancers(76;0.126)				TCGATTTGCCGCACGAAGGAC	0.627000																								0							SO:0001583	missense			ENST00000277531.4	1	1	hg19	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974443	0.74246	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.4	2.19	0.27852	Cyclic nucleotide-binding-like (2);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70905	-0.4745	10	0.87932	D	0	-25.6295	11.2036	0.48756	0.0:0.0:0.6261:0.3739	.	611;586	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	W	192;586;611;586;577	ENSP00000360512:R192W;ENSP00000277531:R586W;ENSP00000384610:R611W;ENSP00000400582:R577W	ENSP00000277531:R586W	R	-	1	2	PNPLA7	139512445	0.016000	0.18221	1.000000	0.80357	0.983000	0.72400	0.023000	0.13533	0.859000	0.35456	0.448000	0.29417	CGG		TCGA-IB-7651-01A-11D-2154-08	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1	65	335	0	61	1	1.922688e-01	2	3	0	61	2		0	0	0	0	0	2	1	1	65	327	0	61	2								-2.893080	1	1	121186	11	42	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPLA7	375775	broad.mit.edu	37	9	140400201	140400201	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140400201G>T	ENST00000277531.4	-	13	1449	c.1263C>A	c.(1261-1263)agC>agA	p.S421R	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000406427.1_Missense_Mutation_p.S446R	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7			40	all_cancers(76;0.126)				CAACCATCACGCTTTTCCTGG	0.562000																								0							SO:0001583	missense			ENST00000277531.4	1	1	hg19	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.228	0.410125	0.11812	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.71341	-0.56;0.23;0.23;0.24	4.26	-8.53	0.00916	.	0.823959	0.11124	N	0.597110	T	0.59238	0.2179	L	0.57536	1.79	0.37440	D	0.914394	B;B	0.12013	0.005;0.001	B;B	0.14023	0.01;0.004	T	0.11690	-1.0577	10	0.37606	T	0.19	-2.0329	11.2443	0.48987	0.7541:0.0:0.129:0.1169	.	446;421	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	27;421;446;421;412	ENSP00000360512:S27R;ENSP00000277531:S421R;ENSP00000384610:S446R;ENSP00000400582:S412R	ENSP00000277531:S421R	S	-	3	2	PNPLA7	139520022	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.997000	0.01470	-2.187000	0.00759	-0.482000	0.04802	AGC		TCGA-IB-7651-01A-11D-2154-08	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1	112	575	0	135	1	8.160757e-01	2	16	0	135	2		0	0	0	0	0	2	1	1	112	564	0	134	2								-20.000000	1	1	121412	1	37	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNPLA7	375775	broad.mit.edu	37	9	140416117	140416117	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140416117G>T	ENST00000277531.4	-	9	1039	c.853C>A	c.(853-855)Ctc>Atc	p.L285I	PNPLA7_ENST00000406427.1_Missense_Mutation_p.L310I	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7			40	all_cancers(76;0.126)				GTCAGGCCGAGGTAGTTGTGC	0.592000																								0							SO:0001583	missense			ENST00000277531.4	1	1	hg19	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563386	0.45694	.	.	ENSG00000130653	ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T;T	0.76968	1.24;-1.04;-1.06;-1.01	4.75	1.35	0.21983	.	0.160277	0.42964	D	0.000622	D	0.86222	0.5881	M	0.83483	2.645	0.21822	N	0.999529	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.956	T	0.76838	-0.2811	10	0.87932	D	0	-18.4941	9.378	0.38295	0.2962:0.0:0.7038:0.0	.	16;310;285	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	I	16;285;310;285;276;310	ENSP00000360501:L16I;ENSP00000277531:L285I;ENSP00000384610:L310I;ENSP00000400582:L276I	ENSP00000277531:L285I	L	-	1	0	PNPLA7	139535938	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.341000	0.43983	0.422000	0.26005	0.313000	0.20887	CTC		TCGA-IB-7651-01A-11D-2154-08	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	0	28	351	0	73	0	1.475329e-01	0	9	0	73	2		0	0	0	0	0	2	1	1	28	348	0	73	2								-20.000000	1	0	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.830000	0.570000	1.000000	1.000000	0.838942	0.830000	0	6.900000e-01	1
PNPLA7	375775	broad.mit.edu	37	9	140437993	140437993	+	Missense_Mutation	SNP	G	G	T	rs146033561		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140437993G>T	ENST00000277531.4	-	5	508	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Missense_Mutation_p.L133M	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7			40	all_cancers(76;0.126)				TTGGGCTGCAGGGCCGGGTAT	0.572000																								0							SO:0001583	missense			ENST00000277531.4	1	1	hg19	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519916	0.64634	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.64438	-0.09;-0.1;-0.08	4.19	0.496	0.16896	.	0.084717	0.49916	D	0.000137	T	0.72415	0.3457	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73380	0.978;0.98	T	0.70769	-0.4782	10	0.66056	D	0.02	-17.7145	8.5224	0.33285	0.3393:0.0:0.6607:0.0	.	133;108	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	M	108;133;108;99;133	ENSP00000277531:L108M;ENSP00000384610:L133M;ENSP00000400582:L99M	ENSP00000277531:L108M	L	-	1	2	PNPLA7	139557814	1.000000	0.71417	0.843000	0.33291	0.982000	0.71751	2.622000	0.46427	0.135000	0.18707	0.563000	0.77884	CTG		TCGA-IB-7651-01A-11D-2154-08	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	1	0	1	53	273	0	51	1	5.058259e-01	3	7	0	51	2		0	0	0	0	0	2	1	1	51	269	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZMYND19	116225	broad.mit.edu	37	9	140481555	140481555	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140481555G>A	ENST00000298585.2	-	4	449	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19			13	all_cancers(76;0.106)				CCCCGGTGCCGCTCCCTAGAA	0.617000																								0							SO:0001583	missense			ENST00000298585.2	1	1	hg19	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177643	0.78564	0.0	1.16E-4	ENSG00000165724	ENST00000298585	.	.	.	5.06	4.16	0.48862	.	0.110301	0.64402	D	0.000014	T	0.53530	0.1802	L	0.29908	0.895	0.50171	D	0.999857	D	0.69078	0.997	D	0.63597	0.916	T	0.56541	-0.7962	9	0.87932	D	0	-14.4175	6.0353	0.19704	0.0904:0.0:0.6267:0.2829	.	75	Q96E35	ZMY19_HUMAN	W	75	.	ENSP00000298585:R75W	R	-	1	2	ZMYND19	139601376	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.002000	0.49496	1.355000	0.45865	0.655000	0.94253	CGG		TCGA-IB-7651-01A-11D-2154-08	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	1	0	1	84	464	0	81	1	9.999995e-01	44	71	0	81	2		0	0	0	0	0	2	1	1	83	459	0	79	2								-20.000000	1	1	121356	1	27	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARRDC1	92714	broad.mit.edu	37	9	140508087	140508087	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508087G>A	ENST00000371421.4	+	4	365	c.301G>A	c.(301-303)Gag>Aag	p.E101K	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1			13	all_cancers(76;0.106)				CACGTCCTTTGAGGGTCCTTT	0.597000																								0							SO:0001583	missense			ENST00000371421.4	1	1	hg19	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	34	5.359037	0.95854	.	.	ENSG00000197070	ENST00000371421;ENST00000431925;ENST00000419386	T;T;T	0.17854	2.25;2.25;2.25	5.65	5.65	0.86999	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.095855	0.64402	D	0.000001	T	0.47078	0.1426	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.988	D;D;D	0.81914	0.914;0.995;0.936	T	0.46693	-0.9173	10	0.72032	D	0.01	-9.174	18.7737	0.91901	0.0:0.0:1.0:0.0	.	101;101;101	Q5T371;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	K	101	ENSP00000360475:E101K;ENSP00000406247:E101K;ENSP00000406833:E101K	ENSP00000360475:E101K	E	+	1	0	ARRDC1	139627908	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	9.052000	0.93855	2.684000	0.91462	0.555000	0.69702	GAG		TCGA-IB-7651-01A-11D-2154-08	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	1	0	1	85	358	0	84	1	1	180	274	0	84	2		0	0	0	0	0	2	1	1	84	352	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARRDC1	92714	broad.mit.edu	37	9	140508784	140508784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508784G>A	ENST00000371421.4	+	6	716	c.652G>A	c.(652-654)Gac>Aac	p.D218N	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1			13	all_cancers(76;0.106)				CTGGATCCACGACGTACGGAC	0.682000																								0							SO:0001583	missense			ENST00000371421.4	1	1	hg19	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	g	19.91	3.915370	0.73098	.	.	ENSG00000197070	ENST00000371421;ENST00000419386	T;T	0.17691	3.29;2.26	5.15	4.25	0.50352	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.75447	2.3	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.28808	-1.0032	10	0.56958	D	0.05	-8.9991	12.5194	0.56050	0.0808:0.0:0.9192:0.0	.	107;218;182	Q59FD7;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	N	218;182	ENSP00000360475:D218N;ENSP00000406833:D182N	ENSP00000360475:D218N	D	+	1	0	ARRDC1	139628605	1.000000	0.71417	0.599000	0.28851	0.570000	0.35934	9.262000	0.95591	1.170000	0.42753	0.555000	0.69702	GAC		TCGA-IB-7651-01A-11D-2154-08	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	1	0	1	150	614	0	127	1	1	110	156	0	127	2		0	0	0	0	0	2	1	1	149	605	0	123	2								-20.000000	1	1	121328	3	37	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf37	0	broad.mit.edu	37	9	140510210	140510210	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140510210G>A	ENST00000371417.3	-	3	982	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN				3	all_cancers(76;0.106)				AGGTCCCTCCGACAGGAGACC	0.672000																								0							SO:0001583	missense			ENST00000371417.3	1	1	hg19	CCDS35189.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111259	0.20714	0.0	1.16E-4	ENSG00000203993	ENST00000371417	.	.	.	1.8	-3.61	0.04556	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	8	0.87932	D	0	.	3.1811	0.06584	0.2721:0.0:0.4737:0.2542	.	148	Q9H2J1	CI037_HUMAN	W	148	.	ENSP00000360471:R148W	R	-	1	2	C9orf37	139630031	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.872000	0.01639	-0.726000	0.04895	-0.734000	0.03567	CGG		TCGA-IB-7651-01A-11D-2154-08	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1	1	0	1	36	148	0	37	1	9.998466e-01	15	43	0	37	2		0	0	0	0	0	2	1	1	35	144	0	35	2								-20.000000	1	1	121382	5	33	1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
EHMT1	79813	broad.mit.edu	37	9	140611405	140611405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140611405G>A	ENST00000460843.1	+	3	440	c.413G>A	c.(412-414)aGg>aAg	p.R138K	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1			41	all_cancers(76;0.164)				CAGCCCTTGAGGACTACCAGC	0.567000																								0							SO:0001583	missense			ENST00000460843.1	1	1	hg19	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	g	25.8	4.673887	0.88445	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.79033	0.74;-0.0;-1.23	6.0	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.67953	2.075	0.43160	D	0.99494	D;D;D	0.76494	0.986;0.997;0.999	D;D;D	0.81914	0.968;0.991;0.995	D	0.88340	0.2974	10	0.72032	D	0.01	.	15.5361	0.76004	0.0661:0.0:0.9339:0.0	.	138;107;138	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	K	107;107;138;138	ENSP00000334476:R107K;ENSP00000417328:R138K;ENSP00000417980:R138K	ENSP00000334476:R107K	R	+	2	0	EHMT1	139731226	1.000000	0.71417	0.240000	0.24138	0.958000	0.62258	6.610000	0.74178	1.567000	0.49668	0.639000	0.83563	AGG		TCGA-IB-7651-01A-11D-2154-08	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1	78	390	0	99	1	9.999649e-01	12	64	0	99	2		0	0	0	0	0	2	1	1	77	383	0	98	2								-3.238019	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHMT1	79813	broad.mit.edu	37	9	140672344	140672344	+	Missense_Mutation	SNP	C	C	T	rs137852719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140672344C>T	ENST00000460843.1	+	13	2056	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S|EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1			41	all_cancers(76;0.164)				TGCTGCCGGGCCACCACTCTC	0.602000																								0							SO:0001583	missense			ENST00000460843.1	1	1	hg19	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312869	0.23908	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.68181	1.79;1.04;-0.31	4.66	-0.427	0.12310	.	0.780783	0.11933	N	0.515534	T	0.37210	0.0995	N	0.11427	0.14	0.09310	N	1	B;B;B	0.24132	0.002;0.098;0.004	B;B;B	0.23716	0.003;0.048;0.009	T	0.19844	-1.0293	10	0.13470	T	0.59	.	2.8511	0.05558	0.3537:0.4192:0.1222:0.1049	.	677;646;677	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	S	646;646;677;677	ENSP00000334476:P646S;ENSP00000417328:P677S;ENSP00000417980:P677S	ENSP00000334476:P646S	P	+	1	0	EHMT1	139792165	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.289000	0.08365	0.106000	0.17784	0.561000	0.74099	CCA		TCGA-IB-7651-01A-11D-2154-08	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1	194	972	0	216	1	9.999910e-01	17	64	0	216	2		0	0	0	0	0	2	1	1	193	959	0	214	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHMT1	79813	broad.mit.edu	37	9	140711975	140711975	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140711975C>T	ENST00000460843.1	+	24	3486	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1			41	all_cancers(76;0.164)				CCTTTGTCTGCGAGTGAGTGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000460843.1	1	1	hg19	CCDS7050.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1	42	268	0	58	1	9.997740e-01	3	80	0	58	2		0	0	0	0	0	2	1	1	41	264	0	56	2								-3.319584	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	0.999801	0.990000	1	9.900000e-01	1
EHMT1	79813	broad.mit.edu	37	9	140728842	140728842	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140728842C>T	ENST00000460843.1	+	26	3609	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1			41	all_cancers(76;0.164)				TCTACGGGAACGTCAGCCGGT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000460843.1	1	1	hg19	CCDS7050.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1	56	248	0	69	1	9.999997e-01	15	87	0	69	2		0	0	0	0	0	2	1	1	56	246	0	69	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EHMT1	79813	broad.mit.edu	37	9	140729348	140729348	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140729348G>A	ENST00000460843.1	+	27	3867	c.3840G>A	c.(3838-3840)gaG>gaA	p.E1280E		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1			41	all_cancers(76;0.164)				CGGCCCAGGAGGCCCAGGAGG	0.756000																								0							SO:0001819	synonymous_variant			ENST00000460843.1	0	1	hg19	CCDS7050.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	0	0	0	19	112	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	9.999940e-01	19	111	0	19	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.970000	1.000000	1.000000	0.997306	0.990000	1	9.900000e-01	1
CACNA1B	774	broad.mit.edu	37	9	140809245	140809245	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140809245C>A	ENST00000371372.1	+	5	907	c.762C>A	c.(760-762)ttC>ttA	p.F254L	CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCCTGTTTCCCCAACAGCA	0.562000																								0							SO:0001583	missense			ENST00000371372.1	1	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151009	0.38021	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	4.34	3.44	0.39384	.	0.111472	0.64402	D	0.000006	D	0.95887	0.8661	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	P	0.45753	0.492	D	0.94161	0.7414	10	0.51188	T	0.08	.	8.9929	0.36035	0.0:0.8203:0.0:0.1797	.	254	B1AQK6	.	L	254	ENSP00000360423:F254L;ENSP00000277551:F254L;ENSP00000360414:F254L;ENSP00000360408:F254L;ENSP00000360406:F254L	ENSP00000277551:F254L	F	+	3	2	CACNA1B	139929066	0.980000	0.34600	0.998000	0.56505	0.929000	0.56500	2.042000	0.41222	1.011000	0.39340	0.561000	0.74099	TTC		TCGA-IB-7651-01A-11D-2154-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	19	123	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.999910e-01	18	118	0	25	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.910000	1.000000	1.000000	0.995184	0.990000	1	9.900000e-01	1
CACNA1B	774	broad.mit.edu	37	9	140952524	140952524	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140952524C>T	ENST00000371372.1	+	28	4275	c.4130C>T	c.(4129-4131)gCc>gTc	p.A1377V	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A573V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCGTGGATGCCACCTATGAG	0.547000																								0							SO:0001583	missense			ENST00000371372.1	1	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199806	0.79015	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	L	0.46819	1.47	0.80722	D	1	B;P;P	0.41498	0.255;0.752;0.752	B;P;P	0.51742	0.228;0.678;0.678	D	0.95465	0.8546	10	0.23302	T	0.38	.	19.4443	0.94840	0.0:1.0:0.0:0.0	.	1377;1378;1377	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1377;1377;573;1377;1378;1378	ENSP00000360423:A1377V;ENSP00000277551:A1377V;ENSP00000277549:A573V;ENSP00000360414:A1377V;ENSP00000360408:A1378V;ENSP00000360406:A1378V	ENSP00000277549:A573V	A	+	2	0	CACNA1B	140072345	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.708000	0.84633	2.682000	0.91365	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	57	241	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	57	236	0	57	2								-3.083354	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1B	774	broad.mit.edu	37	9	141012423	141012423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141012423G>T	ENST00000371372.1	+	43	5948	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.E1129*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCATCAAAGAGTCTGTCTC	0.572000																								0							SO:0001587	stop_gained			ENST00000371372.1	0	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	56	26.658571	0.99969	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	3.94	3.94	0.45596	.	25.295300	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.9521	0.64123	0.0:0.0:1.0:0.0	.	.	.	.	X	1935;1935;1129;1933;1934;1936	.	ENSP00000277549:E1129X	E	+	1	0	CACNA1B	140132244	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.342000	0.65970	2.036000	0.60181	0.561000	0.74099	GAG		TCGA-IB-7651-01A-11D-2154-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	9	62	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.945574e-01	8	61	0	14	2								-16.289560	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.680000	1.000000	1.000000	0.969604	0.990000	1	9.500000e-01	1
CACNA1B	774	broad.mit.edu	37	9	141015943	141015943	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141015943G>T	ENST00000371372.1	+	47	6657	c.6512G>T	c.(6511-6513)aGc>aTc	p.S2171I	CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1365I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAATGGGAGCCCCTTGCTG	0.557000																								0							SO:0001583	missense			ENST00000371372.1	1	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936637	0.73442	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98567	-4.71;-5.0;-4.72;-4.71;-4.69	5.0	5.0	0.66597	.	0.124902	0.52532	D	0.000068	D	0.98482	0.9494	M	0.79258	2.445	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.54629	0.757;0.757	D	0.99640	1.0988	10	0.72032	D	0.01	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2170;2169	B1AQK7;B1AQK6	.;.	I	2171;1365;2169;2170;2172	ENSP00000360423:S2171I;ENSP00000277549:S1365I;ENSP00000360414:S2169I;ENSP00000360408:S2170I;ENSP00000360406:S2172I	ENSP00000277549:S1365I	S	+	2	0	CACNA1B	140135764	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	8.927000	0.92846	2.319000	0.78375	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	54	228	0	29	0	0	1	0	0	29	2		0	0	0	0	0	2	1	1	51	217	0	29	2								-20.000000	1	1	0	0		1	0	0	0	1.937903	0	0.170000	2.060000	1.438003e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1B	774	broad.mit.edu	37	9	141016245	141016245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141016245G>A	ENST00000371372.1	+	47	6959	c.6814G>A	c.(6814-6816)Gcc>Acc	p.A2272T	CACNA1B_ENST00000277551.2_Silent_p.T2209T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A1466T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTGTCCACGCCCTGCCTGA	0.647000																								0							SO:0001583	missense			ENST00000371372.1	1	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311920	0.23821	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96940	-3.96;-4.18;-3.95;-3.94;-3.94	5.11	-6.17	0.02091	.	0.987100	0.08256	N	0.973720	D	0.90896	0.7139	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.79313	-0.1855	10	0.12766	T	0.61	.	9.4673	0.38820	0.1512:0.2673:0.5814:0.0	.	2271;2270	B1AQK7;B1AQK6	.;.	T	2272;1466;2270;2271;2273	ENSP00000360423:A2272T;ENSP00000277549:A1466T;ENSP00000360414:A2270T;ENSP00000360408:A2271T;ENSP00000360406:A2273T	ENSP00000277549:A1466T	A	+	1	0	CACNA1B	140136066	0.000000	0.05858	0.003000	0.11579	0.919000	0.55068	-0.452000	0.06787	-1.095000	0.03050	-0.378000	0.06908	GCC		TCGA-IB-7651-01A-11D-2154-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	0	0	0	13	344	0	66	0	0	0	1	0	66	2		0	0	0	0	0	2	1	9.995029e-01	13	338	0	64	2								-3.314565	1	1	121026	1	37	1						0.170000	2.060000									0	0
NFIB	4781	broad.mit.edu	37	9	14307409	14307409	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14307409C>T	ENST00000380959.3	-	2	614	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K|NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K|NFIB_ENST00000397575.3_Silent_p.K47K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B			17					TTGACATTCGCTTCTCATGCT	0.458000			T	MYB, HGMA2	adenoid cystic carcinoma, lipoma								Esophageal Squamous(132;921 1730 14828 40753 46471)		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0							SO:0001819	synonymous_variant			ENST00000380959.3	1	1	hg19	CCDS6474.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	0	0	1	64	254	1	51	1	9.988877e-01	45	61	1	51	9		0	0	0	0	0	2	1	1	63	250	1	51	19								-20.000000	1	1	121412	1	31	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CER1	9350	broad.mit.edu	37	9	14720268	14720268	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720268G>A	ENST00000380911.3	-	2	668	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist			11					CAGGCAAACAGTGAGAGCAGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000380911.3	1	1	hg19	CCDS6476.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	1	0	1	49	244	1	70		0	0	0	1	70	2		0	0	0	0	0	2	1	9.999218e-01	46	240	2	69	20								-20.000000	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
FREM1	158326	broad.mit.edu	37	9	14747318	14747318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14747318C>A	ENST00000380880.3	-	33	6736	c.5953G>T	c.(5953-5955)Gaa>Taa	p.E1985*	FREM1_ENST00000380881.4_Nonsense_Mutation_p.E1986*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1			100					TGAGGCAGTTCTGCCACTTTG	0.423000																								0							SO:0001587	stop_gained			ENST00000380880.3	0	1	hg19	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	50	16.906635	0.99874	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	.	.	.	5.64	4.73	0.59995	.	0.592171	0.18006	N	0.154748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.2242	14.7377	0.69427	0.0:0.8557:0.1443:0.0	.	.	.	.	X	1986;1985;521;1985	.	ENSP00000370262:E1985X	E	-	1	0	FREM1	14737318	0.998000	0.40836	0.161000	0.22692	0.466000	0.32739	3.625000	0.54238	1.340000	0.45581	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1	91	553	0	112	0	5.690945e-01	0	13	0	112	2		0	0	0	0	0	2	1	1	90	538	0	112	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FREM1	158326	broad.mit.edu	37	9	14769800	14769800	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14769800T>C	ENST00000380880.3	-	27	5909	c.5126A>G	c.(5125-5127)aAc>aGc	p.N1709S	FREM1_ENST00000380881.4_Missense_Mutation_p.N1710S|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.N1709S|FREM1_ENST00000380894.1_Missense_Mutation_p.N245S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1			100					CAAAGATGGGTTTATGATGTA	0.343000																								0							SO:0001583	missense			ENST00000380880.3	1	0	hg19	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402500	0.42613	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.50001	2.86;2.86;0.76;2.86	5.86	4.72	0.59763	.	0.090442	0.85682	N	0.000000	T	0.45216	0.1331	M	0.66506	2.035	0.38529	D	0.948913	B;B	0.20261	0.006;0.043	B;B	0.18871	0.023;0.014	T	0.42137	-0.9469	10	0.33940	T	0.23	-20.8851	10.9464	0.47304	0.0:0.077:0.0:0.923	.	1709;245	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	S	1710;1709;245;1709;122	ENSP00000370263:N1710S;ENSP00000412940:N1709S;ENSP00000370278:N245S;ENSP00000370262:N1709S	ENSP00000370262:N1709S	N	-	2	0	FREM1	14759800	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.107000	0.50329	1.140000	0.42260	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	0	7	141	0	41	0	8.443529e-02	0	9	0	41	2		0	0	0	0	0	2	1	9.809576e-01	6	141	0	41	2								-10.290870	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.550000	0.250000	0.980000	1.000000	0.577897	0.550000	0	3.800000e-01	7.700000e-01
FREM1	158326	broad.mit.edu	37	9	14819312	14819312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14819312G>A	ENST00000380880.3	-	14	3249	c.2466C>T	c.(2464-2466)caC>caT	p.H822H	FREM1_ENST00000380881.4_Silent_p.H823H|FREM1_ENST00000422223.2_Silent_p.H822H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1			100					CCACCCTTCCGTGCAGAGGCA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000380880.3	1	1	hg19	CCDS47952.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1	49	180	0	38	0	4.663237e-01	0	7	0	38	2		0	0	0	0	0	2	1	1	48	178	0	37	2								-3.631210	1	1	120850	3	37	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FREM1	158326	broad.mit.edu	37	9	14841558	14841558	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14841558C>A	ENST00000380880.3	-	10	2551	c.1768G>T	c.(1768-1770)Gat>Tat	p.D590Y	FREM1_ENST00000380881.4_Missense_Mutation_p.D591Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1			100					TTAAACAAATCCCTCTGAAGG	0.388000																								0							SO:0001583	missense			ENST00000380880.3	1	1	hg19	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733208	0.89482	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.54866	0.55;0.55;0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.81479	0.4831	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84940	0.0865	10	0.87932	D	0	-17.8822	20.5568	0.99304	0.0:1.0:0.0:0.0	.	590	Q5H8C1	FREM1_HUMAN	Y	591;590;590	ENSP00000370263:D591Y;ENSP00000412940:D590Y;ENSP00000370262:D590Y	ENSP00000370257:D593Y	D	-	1	0	FREM1	14831558	1.000000	0.71417	0.767000	0.31495	0.938000	0.57974	7.417000	0.80156	2.861000	0.98227	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1	58	455	0	101	0	3.668397e-02	0	3	0	101	2		0	0	0	0	0	2	1	1	57	447	0	98	2								-19.786470	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.980000	1.000000	1.000000	0.998592	0.990000	1	9.900000e-01	1
FREM1	158326	broad.mit.edu	37	9	14842621	14842621	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14842621C>A	ENST00000380880.3	-	9	2214	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	FREM1_ENST00000380881.4_Missense_Mutation_p.Q478H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q477H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1			100					CAACTCCAGCCTGGAGGTCAG	0.542000																								0							SO:0001583	missense			ENST00000380880.3	0	1	hg19	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476743	0.63849	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26810	1.71;1.71;1.71	5.63	1.72	0.24424	.	0.104852	0.64402	D	0.000003	T	0.24236	0.0587	N	0.21373	0.66	0.44619	D	0.997598	D	0.54397	0.966	P	0.52554	0.702	T	0.01111	-1.1448	10	0.45353	T	0.12	-11.4335	10.6614	0.45704	0.0:0.745:0.0:0.2549	.	477	Q5H8C1	FREM1_HUMAN	H	478;477;477	ENSP00000370263:Q478H;ENSP00000412940:Q477H;ENSP00000370262:Q477H	ENSP00000370257:Q480H	Q	-	3	2	FREM1	14832621	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	1.425000	0.34859	0.125000	0.18397	-0.136000	0.14681	CAG		TCGA-IB-7651-01A-11D-2154-08	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	0	0	0	13	352	0	117	0	2.076262e-02	0	6	0	117	2		0	0	0	0	0	2	1	9.994349e-01	11	341	0	115	2								-13.261620	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.410000	0.220000	0.650000	0.400000	0.426300	0.410000	0	3.100000e-01	5.300000e-01
FREM1	158326	broad.mit.edu	37	9	14851350	14851350	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14851350C>A	ENST00000380880.3	-	6	1867	c.1084G>T	c.(1084-1086)Gat>Tat	p.D362Y	FREM1_ENST00000380881.4_Missense_Mutation_p.D363Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y|RNU6-1260P_ENST00000362944.1_RNA			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1			100					TCACTGAGATCTTTCCAGGTG	0.493000																								0							SO:0001583	missense			ENST00000380880.3	1	1	hg19	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544991	0.86022	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27256	1.69;1.68;1.68	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.88906	2.99	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.63808	-0.6553	10	0.87932	D	0	-20.9343	14.6418	0.68732	0.0:0.9309:0.0:0.0691	.	362	Q5H8C1	FREM1_HUMAN	Y	363;362;362	ENSP00000370263:D363Y;ENSP00000412940:D362Y;ENSP00000370262:D362Y	ENSP00000370257:D365Y	D	-	1	0	FREM1	14841350	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	4.660000	0.61511	2.850000	0.98022	0.655000	0.94253	GAT		TCGA-IB-7651-01A-11D-2154-08	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	1	0	1	56	227	0	57	0	6.200282e-01	1	9	0	57	2		0	0	0	0	0	2	1	1	54	221	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SNAPC3	6619	broad.mit.edu	37	9	15422996	15422996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15422996G>A	ENST00000380821.3	+	1	295	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa			12					CTAAATACGCGCGCTTTCCAT	0.687000																								0							SO:0001583	missense			ENST00000380821.3	0	1	hg19	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860655	0.32884	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.50813	0.73	5.36	2.33	0.28932	.	0.410761	0.27500	N	0.019097	T	0.39172	0.1068	L	0.51422	1.61	0.19775	N	0.999953	D;P	0.54047	0.964;0.832	B;B	0.43082	0.407;0.151	T	0.33369	-0.9871	10	0.72032	D	0.01	-15.0524	6.5701	0.22533	0.1793:0.1541:0.6666:0.0	.	40;40	B4DDR9;Q92966	.;SNPC3_HUMAN	H	40	ENSP00000370200:R40H	ENSP00000370185:R40H	R	+	2	0	SNAPC3	15412996	0.239000	0.23836	0.423000	0.26634	0.171000	0.22731	2.301000	0.43628	0.838000	0.34948	-0.304000	0.09214	CGC		TCGA-IB-7651-01A-11D-2154-08	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	1	0	0	14	68	0	9	1	9.455403e-01	5	22	0	9	2		0	0	0	0	0	2	1	9.997565e-01	14	63	0	8	2								-19.999990	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.950000	1.000000	1.000000	0.996577	0.990000	1	9.900000e-01	1
BNC2	54796	broad.mit.edu	37	9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436735C>T	ENST00000380672.4	-	6	1514	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_ENST00000380666.2_Missense_Mutation_p.R486H|BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000545497.1_Missense_Mutation_p.R391H	NM_017637.5	NP_060107.3			basonuclin 2			60					GTGGCGATTACGACTTCGGAG	0.463000																								0							SO:0001583	missense			ENST00000380672.4	1	1	hg19	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973250	0.74246	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.996;1.0;0.996;0.98;0.998;0.994;0.998	T	0.60188	-0.7312	10	0.72032	D	0.01	-12.1064	20.2422	0.98381	0.0:1.0:0.0:0.0	.	391;419;486;312;486;443;486;391;251	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	H	486;443;419;391;312;486;486	ENSP00000370047:R486H;ENSP00000408370:R443H;ENSP00000370042:R419H;ENSP00000444640:R391H;ENSP00000370041:R486H	ENSP00000370041:R486H	R	-	2	0	BNC2	16426735	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGT		TCGA-IB-7651-01A-11D-2154-08	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	0	0	0	17	527	0	102	0	7.810636e-02	0	14	0	102	2		0	0	0	0	0	2	1	9.999574e-01	17	513	0	101	2								-3.145375	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.350000	0.210000	0.540000	0.350000	0.370467	0.350000	0	2.800000e-01	4.500000e-01
BNC2	54796	broad.mit.edu	37	9	16436949	16436949	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436949T>C	ENST00000380672.4	-	6	1300	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	BNC2_ENST00000380666.2_Missense_Mutation_p.T415A|BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000545497.1_Missense_Mutation_p.T320A	NM_017637.5	NP_060107.3			basonuclin 2			60					TCAGTTTTGGTTAGATCACTG	0.483000																								0							SO:0001583	missense			ENST00000380672.4	1	1	hg19	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	0.117	-1.131188	0.01756	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.30981	1.53;1.52;1.54;1.54;1.51	6.07	2.28	0.28536	.	0.910256	0.09748	N	0.761036	T	0.13970	0.0338	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	T	0.34153	-0.9840	10	0.18276	T	0.48	-7.7067	5.7067	0.17913	0.5184:0.0903:0.0:0.3913	.	320;348;415;241;415;372;415;320;180	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	415;372;348;320;241;415;415	ENSP00000370047:T415A;ENSP00000408370:T372A;ENSP00000370042:T348A;ENSP00000444640:T320A;ENSP00000370041:T415A	ENSP00000370041:T415A	T	-	1	0	BNC2	16426949	0.510000	0.26171	0.715000	0.30552	0.046000	0.14306	1.029000	0.30140	0.462000	0.27095	0.533000	0.62120	ACC		TCGA-IB-7651-01A-11D-2154-08	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	0	0	1	54	242	0	53	0	7.537297e-01	0	14	0	53	2		0	0	0	0	0	2	1	1	54	237	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BNC2	54796	broad.mit.edu	37	9	16437072	16437072	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16437072T>C	ENST00000380672.4	-	6	1177	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A	BNC2_ENST00000380666.2_Missense_Mutation_p.T374A|BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000545497.1_Missense_Mutation_p.T279A	NM_017637.5	NP_060107.3			basonuclin 2			60					TTATAAGGTGTGGGAGAAACT	0.473000																								0							SO:0001583	missense			ENST00000380672.4	1	1	hg19	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	7.413	0.635166	0.14322	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.29397	1.57;1.57;1.58;1.58;1.57	5.96	5.96	0.96718	.	0.102553	0.64402	D	0.000002	T	0.17365	0.0417	N	0.14661	0.345	0.37568	D	0.919307	B;B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.001;0.004;0.001;0.0;0.0;0.0;0.002	B;B;B;B;B;B;B;B;B	0.12156	0.001;0.0;0.001;0.007;0.003;0.0;0.0;0.0;0.001	T	0.18681	-1.0329	10	0.11485	T	0.65	-11.4966	11.4686	0.50254	0.0:0.0695:0.0:0.9305	.	279;307;374;200;374;331;374;279;139	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	A	374;331;307;279;200;374;374	ENSP00000370047:T374A;ENSP00000408370:T331A;ENSP00000370042:T307A;ENSP00000444640:T279A;ENSP00000370041:T374A	ENSP00000370041:T374A	T	-	1	0	BNC2	16427072	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.615000	0.46368	2.270000	0.75569	0.533000	0.62120	ACA		TCGA-IB-7651-01A-11D-2154-08	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	1	0	1	65	295	1	71	0	5.066936e-01	0	9	1	71	2		0	0	0	0	0	2	1	1	65	291	1	70	17								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTLN	54875	broad.mit.edu	37	9	17298326	17298326	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17298326A>G	ENST00000380647.3	+	7	1206	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T|CNTLN_ENST00000380641.4_Silent_p.T374T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein			53					ATGTTCACACAGCTGAAAGTA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000380647.3	1	1	hg19	CCDS43789.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	1	0	1	30	179	0	31	0	1.072103e-01	1	3	0	31	2		0	0	0	0	0	2	1	1	28	174	0	31	2								-15.451150	1	1	120808	2	29	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999439	0.990000	1	9.900000e-01	1
CNTLN	54875	broad.mit.edu	37	9	17330786	17330786	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17330786A>C	ENST00000380647.3	+	9	1582	c.1498A>C	c.(1498-1500)Agt>Cgt	p.S500R	CNTLN_ENST00000262360.5_Missense_Mutation_p.S500R|CNTLN_ENST00000425824.1_Missense_Mutation_p.S500R			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein			53					CATCATGACAAGTGCTGAAGG	0.373000																								0							SO:0001583	missense			ENST00000380647.3	1	1	hg19	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555123	0.27739	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.36157	1.27;1.27;1.27	2.82	1.6	0.23607	.	.	.	.	.	T	0.41811	0.1175	L	0.56769	1.78	0.09310	N	1	B;D;D	0.64830	0.112;0.994;0.994	B;P;P	0.56960	0.032;0.81;0.81	T	0.22800	-1.0206	9	0.20519	T	0.43	.	5.0658	0.14582	0.7361:0.0:0.0:0.2639	.	500;500;500	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	R	500	ENSP00000370021:S500R;ENSP00000392798:S500R;ENSP00000262360:S500R	ENSP00000262360:S500R	S	+	1	0	CNTLN	17320786	0.007000	0.16637	0.055000	0.19348	0.588000	0.36517	1.997000	0.40786	0.439000	0.26476	0.528000	0.53228	AGT		TCGA-IB-7651-01A-11D-2154-08	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	0	0	0	14	494	0	102	0	2.840220e-02	0	9	0	102	2		0	0	0	0	0	2	1	9.997237e-01	13	485	0	102	2								-3.567758	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.310000	0.180000	0.500000	0.310000	0.330252	0.310000	0	2.400000e-01	4.100000e-01
CNTLN	54875	broad.mit.edu	37	9	17340942	17340942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17340942G>T	ENST00000380647.3	+	11	1846	c.1762G>T	c.(1762-1764)Ggc>Tgc	p.G588C	CNTLN_ENST00000262360.5_Missense_Mutation_p.G588C|CNTLN_ENST00000425824.1_Missense_Mutation_p.G588C			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein			53					AGAAGGCAGTGGCATGTGAGT	0.388000																								0							SO:0001583	missense			ENST00000380647.3	0	1	hg19	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330380	0.60743	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.11604	2.76;2.76;2.76	5.4	3.3	0.37823	.	.	.	.	.	T	0.22781	0.0550	M	0.64997	1.995	0.35483	D	0.798318	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.69479	0.964;0.947;0.947	T	0.20974	-1.0259	9	0.62326	D	0.03	.	4.1643	0.10300	0.4102:0.0:0.5898:0.0	.	588;588;588	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	C	588	ENSP00000370021:G588C;ENSP00000392798:G588C;ENSP00000262360:G588C	ENSP00000262360:G588C	G	+	1	0	CNTLN	17330942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.094000	0.50227	1.259000	0.44117	0.591000	0.81541	GGC		TCGA-IB-7651-01A-11D-2154-08	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	0	0	0	5	209	0	31	0	3.966289e-02	0	11	0	31	2		0	0	0	0	0	2	1	9.375073e-01	5	208	0	31	2								-6.672834	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.280000	0.100000	0.560000	0.260000	0.306725	0.280000	0	1.800000e-01	4.200000e-01
CNTLN	54875	broad.mit.edu	37	9	17394704	17394704	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17394704A>C	ENST00000380647.3	+	15	2336	c.2252A>C	c.(2251-2253)aAa>aCa	p.K751T	CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein			53					AAGGGGAGTAAAGATGTAGAA	0.363000																								0							SO:0001583	missense			ENST00000380647.3	1	1	hg19	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.334863	0.01287	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18174	2.23;2.23;2.49	5.56	1.7	0.24286	.	.	.	.	.	T	0.09862	0.0242	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17667	0.023;0.021;0.021	B;B;B	0.13407	0.008;0.009;0.006	T	0.35624	-0.9781	9	0.27785	T	0.31	.	1.5427	0.02558	0.3752:0.1479:0.3343:0.1427	.	751;751;751	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	751	ENSP00000370021:K751T;ENSP00000392798:K751T;ENSP00000262360:K751T	ENSP00000262360:K751T	K	+	2	0	CNTLN	17384704	0.218000	0.23608	0.082000	0.20525	0.634000	0.38068	0.444000	0.21661	0.309000	0.22966	0.528000	0.53228	AAA		TCGA-IB-7651-01A-11D-2154-08	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	1	0	1	68	238	0	61	1	8.753273e-01	2	13	0	61	2		0	0	0	0	0	2	1	1	66	233	0	61	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTLN	54875	broad.mit.edu	37	9	17416182	17416182	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17416182A>C	ENST00000380647.3	+	18	3193	c.3109A>C	c.(3109-3111)Ata>Cta	p.I1037L	CNTLN_ENST00000262360.5_Missense_Mutation_p.I1037L|CNTLN_ENST00000425824.1_Missense_Mutation_p.I1037L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein			53					CAGGCAGACAATAAAGGTAAA	0.308000																								0							SO:0001583	missense			ENST00000380647.3	1	0	hg19	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271993	0.40194	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.20598	2.06;2.06;2.32	4.95	3.78	0.43462	.	.	.	.	.	T	0.24160	0.0585	M	0.69823	2.125	0.26036	N	0.98168	P;P;P	0.41102	0.627;0.738;0.738	B;B;B	0.42593	0.295;0.392;0.392	T	0.10042	-1.0647	9	0.18276	T	0.48	.	7.152	0.25616	0.8085:0.0:0.1915:0.0	.	1037;1037;1037	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	L	1037	ENSP00000370021:I1037L;ENSP00000392798:I1037L;ENSP00000262360:I1037L	ENSP00000262360:I1037L	I	+	1	0	CNTLN	17406182	0.991000	0.36638	1.000000	0.80357	0.852000	0.48524	2.050000	0.41297	0.803000	0.34113	0.383000	0.25322	ATA		TCGA-IB-7651-01A-11D-2154-08	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	1	0	0	20	265	0	44	0	3.806287e-01	0	18	0	44	2		0	0	0	0	0	2	1	9.999957e-01	20	263	0	44	2								-19.999990	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.790000	0.500000	1.000000	1.000000	0.799658	0.790000	0	6.300000e-01	9.800000e-01
CNTLN	54875	broad.mit.edu	37	9	17466758	17466758	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17466758G>T	ENST00000380647.3	+	23	3808	c.3724G>T	c.(3724-3726)Gca>Tca	p.A1242S	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein			53					ATCTGCAATGGCAGAAATTGA	0.378000																								0							SO:0001583	missense			ENST00000380647.3	1	1	hg19	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077479	0.36662	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18960	2.18;2.18;2.43	5.32	3.14	0.36123	.	.	.	.	.	T	0.19644	0.0472	L	0.48642	1.525	0.25935	N	0.982942	P;B;B	0.47191	0.891;0.211;0.211	P;B;B	0.47299	0.543;0.13;0.13	T	0.05194	-1.0900	9	0.11485	T	0.65	.	6.0083	0.19559	0.2483:0.0:0.6027:0.149	.	1242;1242;1242	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	S	1242	ENSP00000370021:A1242S;ENSP00000392798:A1242S;ENSP00000262360:A1242S	ENSP00000262360:A1242S	A	+	1	0	CNTLN	17456758	0.997000	0.39634	1.000000	0.80357	0.911000	0.54048	0.348000	0.20031	1.245000	0.43885	-0.145000	0.13849	GCA		TCGA-IB-7651-01A-11D-2154-08	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	1	0	1	26	187	0	58	0	4.939383e-01	1	12	0	58	2		0	0	0	0	0	2	1	9.999999e-01	26	186	0	58	2								-12.670350	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.910000	1.000000	1.000000	0.995154	0.990000	1	9.900000e-01	1
ADAMTSL1	92949	broad.mit.edu	37	9	18622252	18622252	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1			42					TTGTTGGCTGCGATCACCAGC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000380548.4	1	1	hg19	CCDS47954.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	1	0	1	64	263	0	81	0	3.951368e-02	0	2	0	81	2		0	0	0	0	0	2	1	1	61	258	0	79	2								-3.398422	1	1	121412	3	37	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTSL1	92949	broad.mit.edu	37	9	18681875	18681875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18681875G>A	ENST00000380548.4	+	12	1746	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.M469I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1			42					ATCGAGGAATGCACACAGGAG	0.517000																								0							SO:0001583	missense			ENST00000380548.4	1	1	hg19	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577051	0.28092	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000276935	T;T;T	0.53423	0.62;0.62;0.62	5.71	4.81	0.61882	.	.	.	.	.	T	0.25865	0.0630	N	0.04335	-0.225	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06075	-1.0847	9	0.39692	T	0.17	.	10.9033	0.47065	0.1429:0.0:0.8571:0.0	.	469	Q8N6G6	ATL1_HUMAN	I	469	ENSP00000369921:M469I;ENSP00000327887:M469I;ENSP00000276935:M469I	ENSP00000276935:M469I	M	+	3	0	ADAMTSL1	18671875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.337000	0.33862	1.558000	0.49541	0.650000	0.86243	ATG		TCGA-IB-7651-01A-11D-2154-08	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	0	0	1	179	821	0	255	0	3.241772e-02	0	2	0	255	2		0	0	0	0	0	2	1	1	176	806	0	254	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTSL1	92949	broad.mit.edu	37	9	18721548	18721548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18721548G>A	ENST00000380548.4	+	15	2230	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V631M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1			42					CCAGGAGGCTGTGGTGAGCTG	0.587000																								0							SO:0001583	missense			ENST00000380548.4	1	1	hg19	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121444	0.77436	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.61392	0.11;0.11	5.86	5.86	0.93980	.	.	.	.	.	T	0.63733	0.2536	L	0.39020	1.185	0.80722	D	1	D	0.69078	0.997	D	0.63877	0.919	T	0.60031	-0.7342	9	0.35671	T	0.21	.	13.052	0.58960	0.0739:0.0:0.9261:0.0	.	631	Q8N6G6	ATL1_HUMAN	M	631	ENSP00000369921:V631M;ENSP00000276935:V631M	ENSP00000276935:V631M	V	+	1	0	ADAMTSL1	18711548	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.476000	0.73587	2.774000	0.95407	0.650000	0.86243	GTG		TCGA-IB-7651-01A-11D-2154-08	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	1	0	0	30	558	0	129	0	1.582819e-02	0	4	0	129	2		0	0	0	0	0	2	1	1	30	539	0	129	2								-5.735836	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.570000	0.390000	0.790000	0.570000	0.590925	0.570000	0	4.800000e-01	6.900000e-01
ADAMTSL1	92949	broad.mit.edu	37	9	18777494	18777494	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18777494C>T	ENST00000380548.4	+	19	3606	c.3267C>T	c.(3265-3267)ccC>ccT	p.P1089P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1			42					CCCAGCAGCCCGAGGAGCTGC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000380548.4	1	1	hg19	CCDS47954.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	1	0	1	11	42	0	11	0	5.363384e-01	0	8	0	11	2		0	0	0	0	0	2	1	9.989352e-01	11	42	0	11	2								-19.980170	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.950000	1.000000	1.000000	0.996243	0.990000	1	9.900000e-01	1
ADAMTSL1	92949	broad.mit.edu	37	9	18892409	18892409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18892409G>A	ENST00000380548.4	+	26	5005	c.4666G>A	c.(4666-4668)Gcc>Acc	p.A1556T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1			42					CTCCTGGTCTGCCTGTACCCG	0.602000																								0							SO:0001583	missense			ENST00000380548.4	0	1	hg19	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834813	0.32421	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.55052	0.54;0.54	5.45	4.48	0.54585	.	0.467261	0.21883	N	0.067719	T	0.32376	0.0827	N	0.13235	0.315	0.27451	N	0.953432	B;B	0.29212	0.137;0.237	B;B	0.30943	0.058;0.122	T	0.12091	-1.0561	10	0.33141	T	0.24	.	7.4575	0.27274	0.0:0.1348:0.4922:0.373	.	257;1556	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	T	1556;257;260	ENSP00000369921:A1556T;ENSP00000369918:A257T	ENSP00000325584:A260T	A	+	1	0	ADAMTSL1	18882409	0.019000	0.18553	0.967000	0.41034	0.998000	0.95712	1.680000	0.37607	2.560000	0.86352	0.555000	0.69702	GCC		TCGA-IB-7651-01A-11D-2154-08	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1	1	0	1	14	90	0	17	0	5.582707e-02	0	3	0	17	2		0	0	0	0	0	2	1	9.998131e-01	14	89	0	17	2								-19.999130	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.830000	1.000000	1.000000	0.988987	0.990000	1	9.900000e-01	1
FAM154A	158297	broad.mit.edu	37	9	18928781	18928781	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18928781T>G	ENST00000380534.4	-	4	973	c.694A>C	c.(694-696)Atc>Ctc	p.I232L	FAM154A_ENST00000542071.1_Missense_Mutation_p.I40L|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A			26					TCAAAGGGGATTTCACAGGGC	0.542000																								0							SO:0001583	missense			ENST00000380534.4	0	1	hg19	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	T	5.696	0.313041	0.10789	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.15017	2.46;2.46	5.09	2.75	0.32379	.	0.105301	0.42682	D	0.000674	T	0.12987	0.0315	M	0.63428	1.95	0.24741	N	0.993039	B	0.31153	0.31	B	0.30105	0.111	T	0.27739	-1.0065	10	0.08381	T	0.77	-11.714	4.3515	0.11158	0.0:0.254:0.163:0.583	.	232	Q8IYX7	F154A_HUMAN	L	232;40	ENSP00000369907:I232L;ENSP00000438823:I40L	ENSP00000369907:I232L	I	-	1	0	FAM154A	18918781	0.000000	0.05858	0.978000	0.43139	0.912000	0.54170	-0.297000	0.08276	0.408000	0.25621	-0.256000	0.11100	ATC		TCGA-IB-7651-01A-11D-2154-08	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	0	0	0	11	383	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	9.981649e-01	11	374	0	78	2								-10.818220	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.320000	0.170000	0.530000	0.320000	0.339067	0.320000	0	2.300000e-01	4.300000e-01
RRAGA	10670	broad.mit.edu	37	9	19050016	19050016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050016C>T	ENST00000380527.1	+	1	645	c.359C>T	c.(358-360)gCc>gTc	p.A120V		NM_006570.4	NP_006561.1			Ras-related GTP binding A			3					TCTCCTGACGCCAAAATCTTC	0.502000																								0							SO:0001583	missense			ENST00000380527.1	1	1	hg19	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479382	0.84747	.	.	ENSG00000155876	ENST00000380527	T	0.67523	-0.27	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.80696	0.4672	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.80141	-0.1506	10	0.44086	T	0.13	-10.7655	16.1608	0.81704	0.0:1.0:0.0:0.0	.	120	Q7L523	RRAGA_HUMAN	V	120	ENSP00000369899:A120V	ENSP00000369899:A120V	A	+	2	0	RRAGA	19040016	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.320000	0.79064	2.770000	0.95276	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	1	0	0	14	198	0	46	1	9.999994e-01	32	388	0	46	2		0	0	0	0	0	2	1	9.997180e-01	13	191	0	45	2								-17.949600	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.750000	0.430000	1.000000	1.000000	0.759566	0.750000	0	5.700000e-01	9.600000e-01
HAUS6	54801	broad.mit.edu	37	9	19089409	19089409	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19089409C>A	ENST00000380502.3	-	5	1052		c.e5+1		HAUS6_ENST00000380496.1_Splice_Site|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6			27					GTACTACTTACTGTGCATTTT	0.348000																								0							SO:0001630	splice_region_variant			ENST00000380502.3	1	1	hg19	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813639	0.50527	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1537	0.81640	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HAUS6	19079409	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.783000	0.62403	2.406000	0.81754	0.557000	0.71058	.		TCGA-IB-7651-01A-11D-2154-08	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	1	0	1	28	170	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1	28	169	0	22	2								-20.000000	1	1	121408	1	21	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999113	0.990000	1	9.900000e-01	1
DENND4C	55667	broad.mit.edu	37	9	19346246	19346246	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19346246G>T	ENST00000380432.2	+	18	2657	c.2624G>T	c.(2623-2625)aGg>aTg	p.R875M	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C			40					CCTGATAGTAGGACTTGTATG	0.448000																								0							SO:0001583	missense			ENST00000380432.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.95	2.090810	0.36855	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.25414	1.8;1.81	5.29	4.37	0.52481	.	0.992377	0.08205	N	0.981578	T	0.40546	0.1121	L	0.47716	1.5	0.35036	D	0.759271	D;D;D;D	0.76494	0.996;0.986;0.999;0.976	P;P;P;P	0.60682	0.878;0.855;0.843;0.72	T	0.30563	-0.9974	10	0.49607	T	0.09	-17.6969	10.094	0.42464	0.0732:0.1359:0.7909:0.0	.	205;875;57;875	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	M	875;348;57;205;348;57	ENSP00000305795:R348M;ENSP00000443804:R205M	ENSP00000305795:R348M	R	+	2	0	DENND4C	19336246	0.998000	0.40836	0.949000	0.38748	0.041000	0.13682	2.918000	0.48829	2.741000	0.93983	0.650000	0.86243	AGG		TCGA-IB-7651-01A-11D-2154-08	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	126	524	0	138	1	9.999944e-01	17	56	0	138	2		0	0	0	0	0	2	1	1	122	513	0	136	2								-2.885372	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPS6	6194	broad.mit.edu	37	9	19378800	19378800	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19378800T>C	ENST00000380394.4	-	3	313	c.255A>G	c.(253-255)agA>agG	p.R85R	RPS6_ENST00000498815.1_5'Flank|RPS6_ENST00000315377.4_Silent_p.R54R|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Silent_p.R54R|RPS6_ENST00000380381.3_3'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6			7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)			TTCTCCTTGGTCTGTAACAGG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000380394.4	1	1	hg19	CCDS6492.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	1	0	0	22	170	0	55	1	1	2186	5340	0	55	2		0	0	0	0	0	2	1	9.999989e-01	22	166	0	54	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.830000	1.000000	1.000000	0.987985	0.990000	1	9.900000e-01	1
SLC24A2	25769	broad.mit.edu	37	9	19786640	19786640	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19786640G>A	ENST00000341998.2	-	1	286	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SLC24A2_ENST00000286344.3_Silent_p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2			33					CTACCCTAGGGCCACTTACAA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000341998.2	1	1	hg19	CCDS6493.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	1	0	0	22	425	0	92	0	2.731997e-03	0	2	0	92	2		0	0	0	0	0	2	1	9.999988e-01	22	424	0	92	2								-3.314542	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.560000	0.360000	0.800000	0.550000	0.574181	0.560000	0	4.500000e-01	6.800000e-01
SMARCA2	6595	broad.mit.edu	37	9	2073274	2073274	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2073274C>T	ENST00000382203.1	+	11	2018	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SMARCA2_ENST00000382194.1_Silent_p.G603G|SMARCA2_ENST00000357248.2_Silent_p.G603G|SMARCA2_ENST00000349721.2_Silent_p.G603G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2			56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)			CAGAAACCGGCAAGGTTCTGT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000382203.1	1	1	hg19	CCDS34977.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	1	0	1	34	199	0	68	1	9.999996e-01	16	125	0	68	2		0	0	0	0	0	2	1	1	33	198	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999749	0.990000	1	9.900000e-01	1
SMARCA2	6595	broad.mit.edu	37	9	2104068	2104068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2104068C>T	ENST00000382203.1	+	23	3400	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2			56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)			AAATTGAGAGCGACTAATCAC	0.443000																								0							SO:0001583	missense			ENST00000382203.1	1	1	hg19	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440013	0.96168	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.69	5.69	0.88448	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	M	0.84511	2.7	0.80722	D	1	B;D;D	0.76494	0.347;0.999;0.999	B;D;D	0.78314	0.048;0.991;0.98	D	0.90030	0.4134	10	0.56958	D	0.05	-21.8405	19.8145	0.96560	0.0:1.0:0.0:0.0	.	665;1064;1064	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	V	1064	ENSP00000265773:A1064V;ENSP00000349788:A1064V;ENSP00000371638:A1064V;ENSP00000371629:A1064V	ENSP00000265773:A1064V	A	+	2	0	SMARCA2	2094068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.050000	0.71063	2.683000	0.91414	0.563000	0.77884	GCG		TCGA-IB-7651-01A-11D-2154-08	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	1	0	1	121	582	0	136	1	1	18	149	0	136	2		0	0	0	0	0	2	1	1	120	570	0	136	2								-20.000000	1	1	121412	6	40	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCA2	6595	broad.mit.edu	37	9	2119478	2119478	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2119478C>T	ENST00000382203.1	+	26	3914	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	SMARCA2_ENST00000382194.1_Silent_p.D1235D|SMARCA2_ENST00000357248.2_Silent_p.D1235D|SMARCA2_ENST00000349721.2_Silent_p.D1235D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2			56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)			AAGTACCGGACGATGAGACTC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000382203.1	1	1	hg19	CCDS34977.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	1	0	0	37	228	0	58	1	9.999999e-01	23	133	0	58	2		0	0	0	0	0	2	1	1	36	226	0	58	2								-20.000000	1	1	121408	3	35	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999713	0.990000	1	9.900000e-01	1
IFNA10	3446	broad.mit.edu	37	9	21206625	21206625	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21206625T>C	ENST00000357374.2	-	1	517	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10			16					GGGCTGTATTTCCTCTCTATT	0.443000																								0							SO:0001583	missense			ENST00000357374.2	1	1	hg19	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	11.46	1.644157	0.29246	.	.	ENSG00000186803	ENST00000357374	T	0.05447	3.44	3.75	-0.534	0.11883	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.731033	0.13799	N	0.361970	T	0.06280	0.0162	L	0.45581	1.43	0.09310	N	0.999998	B	0.14805	0.011	B	0.26770	0.073	T	0.37911	-0.9685	10	0.32370	T	0.25	.	6.4822	0.22069	0.0:0.5697:0.0:0.4303	.	158	P01566	IFN10_HUMAN	E	158	ENSP00000369566:K158E	ENSP00000369566:K158E	K	-	1	0	IFNA10	21196625	0.000000	0.05858	0.015000	0.15790	0.414000	0.31173	-0.713000	0.05007	0.044000	0.15775	0.409000	0.27619	AAA		TCGA-IB-7651-01A-11D-2154-08	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	1	0	0	80	1842	0	425		0	0	0	0	425	2		0	0	0	0	0	2	1	1	76	1806	0	427	2								-5.952194	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.460000	0.370000	0.580000	0.470000	0.476928	0.460000	0	4.100000e-01	5.300000e-01
IFNA16	3449	broad.mit.edu	37	9	21217213	21217213	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21217213C>T	ENST00000380216.1	-	1	97	c.92G>A	c.(91-93)aGc>aAc	p.S31N		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16			13					ATTACCCAGGCTGTGAGTCTG	0.507000																								0							SO:0001583	missense			ENST00000380216.1	1	1	hg19	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	2.568	-0.300385	0.05532	.	.	ENSG00000147885	ENST00000380216	T	0.03358	3.96	2.62	1.67	0.24075	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.801600	0.11407	N	0.567150	T	0.02888	0.0086	L	0.31526	0.94	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.47381	-0.9122	10	0.24483	T	0.36	.	4.4801	0.11762	0.0:0.6507:0.0:0.3493	.	31	P05015	IFN16_HUMAN	N	31	ENSP00000369564:S31N	ENSP00000369564:S31N	S	-	2	0	IFNA16	21207213	0.000000	0.05858	0.002000	0.10522	0.188000	0.23474	-2.500000	0.00967	0.401000	0.25424	0.184000	0.17185	AGC		TCGA-IB-7651-01A-11D-2154-08	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	1	0	1	97	530	0	172		0	0	0	0	172	2		0	0	0	0	0	2	1	1	96	512	0	172	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL9	55958	broad.mit.edu	37	9	21333707	21333707	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21333707T>G	ENST00000359039.4	-	1	1672	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S	KLHL9_ENST00000537938.1_Silent_p.S316S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9			32					TTTCATTTAATGATGCAACCT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000359039.4	1	1	hg19	CCDS6503.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	1	0	1	70	334	0	68	1	9.999986e-01	20	75	0	68	2		0	0	0	0	0	2	1	1	69	332	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KLHL9	55958	broad.mit.edu	37	9	21334090	21334090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21334090C>T	ENST00000359039.4	-	1	1289	c.769G>A	c.(769-771)Gta>Ata	p.V257I	KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9			32					ATGAAATCTACTGTCTGCACG	0.413000																								0							SO:0001583	missense			ENST00000359039.4	1	1	hg19	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476530	0.63737	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70986	-0.5;-0.53	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.83223	2.63	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.83825	0.0249	10	0.39692	T	0.17	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	257	Q9P2J3	KLHL9_HUMAN	I	257;189	ENSP00000351933:V257I;ENSP00000437733:V189I	ENSP00000351933:V257I	V	-	1	0	KLHL9	21324090	1.000000	0.71417	0.918000	0.36340	0.907000	0.53573	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	GTA		TCGA-IB-7651-01A-11D-2154-08	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	1	0	1	95	393	0	104	1	9.999993e-01	18	68	0	104	2		0	0	0	0	0	2	1	1	93	385	0	102	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELAVL2	1993	broad.mit.edu	37	9	23692688	23692688	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23692688C>T	ENST00000397312.2	-	7	1221	c.947G>A	c.(946-948)tGc>tAc	p.C316Y	ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2			39					AAAACCTTTGCATTTATTGGT	0.478000																								0							SO:0001583	missense			ENST00000397312.2	1	1	hg19	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858770	0.51376	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.994	T	0.03597	-1.1021	10	0.87932	D	0	.	20.369	0.98888	0.0:1.0:0.0:0.0	.	316;303	Q12926;Q12926-2	ELAV2_HUMAN;.	Y	303;316;316;303;316;344	ENSP00000223951:C303Y;ENSP00000380479:C316Y;ENSP00000440998:C316Y;ENSP00000369460:C316Y	ENSP00000223951:C303Y	C	-	2	0	ELAVL2	23682688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.819000	0.97034	0.650000	0.86243	TGC		TCGA-IB-7651-01A-11D-2154-08	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	1	0	1	81	422	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	1	78	409	1	102	17								-20.000000	1	1	121410	1	28	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ELAVL2	1993	broad.mit.edu	37	9	23701384	23701384	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23701384G>A	ENST00000397312.2	-	5	980	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	p.R236G(1)		39					TACCTAAAACGCTGTGCCTGC	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000397312.2	1	1	hg19	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225405	0.58668	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.16073	2.37;2.8;2.8;2.8	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.84948	2.725	0.80722	D	1	B;D	0.76494	0.263;0.999	B;D	0.66497	0.05;0.944	T	0.46978	-0.9152	10	0.54805	T	0.06	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	236;236	Q12926;Q12926-2	ELAV2_HUMAN;.	C	236;236;236;236;236;264	ENSP00000223951:R236C;ENSP00000380479:R236C;ENSP00000440998:R236C;ENSP00000369460:R236C	ENSP00000223951:R236C	R	-	1	0	ELAVL2	23691384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.488000	0.53229	2.812000	0.96745	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	0	0	0	37	913	0	209		0	0	0	0	209	2		0	0	0	0	0	2	1	1	37	898	0	209	2								-3.817550	1	1	121412	1	39	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.440000	0.310000	0.590000	0.440000	0.450719	0.440000	0	3.700000e-01	5.200000e-01
ELAVL2	1993	broad.mit.edu	37	9	23705055	23705055	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23705055G>A	ENST00000397312.2	-	4	622	c.348C>T	c.(346-348)cgC>cgT	p.R116R	ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R|ELAVL2_ENST00000380117.1_Silent_p.R116R|ELAVL2_ENST00000380110.4_Silent_p.R145R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2			39					CTGAACTTGGGCGAGCATAGG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000397312.2	1	1	hg19	CCDS6515.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	1	0	1	86	346	0	77	0	0	1	0	0	77	2		0	0	0	0	0	2	1	1	85	344	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VLDLR	7436	broad.mit.edu	37	9	2643913	2643913	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2643913G>T	ENST00000382100.3	+	7	1376	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.Q340H	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor			24					TATGTAACCAGGAGCAGGACT	0.443000																								0							SO:0001583	missense			ENST00000382100.3	0	1	hg19	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247549	0.39697	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.95554	-3.74;-3.74	5.24	3.21	0.36854	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.131016	0.35320	N	0.003286	D	0.85729	0.5764	N	0.02842	-0.48	0.33844	D	0.631831	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.82232	-0.0559	10	0.51188	T	0.08	.	7.9089	0.29778	0.1504:0.0:0.7225:0.1271	.	340;340;340	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	H	340;340;219	ENSP00000371532:Q340H;ENSP00000371531:Q340H	ENSP00000371524:Q219H	Q	+	3	2	VLDLR	2633913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.264000	0.51553	0.661000	0.30985	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	0	0	0	12	473	0	104	0	3.442204e-01	1	45	0	104	2		0	0	0	0	0	2	1	9.989936e-01	11	462	0	102	2								-3.443262	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.280000	0.150000	0.460000	0.280000	0.299565	0.280000	0	2.100000e-01	3.800000e-01
PLAA	9373	broad.mit.edu	37	9	26905793	26905793	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26905793G>A	ENST00000397292.3	-	14	2521	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein			17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)			AATGTAGCCAGAGCAATGTGA	0.418000													Melanoma(175;2670 2735 14091 35526)											0							SO:0001819	synonymous_variant			ENST00000397292.3	1	1	hg19	CCDS35000.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	1	0	1	51	196	0	50	1	9.999999e-01	32	69	0	50	2		0	0	0	0	0	2	1	1	48	196	0	50	2								-3.646672	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLAA	9373	broad.mit.edu	37	9	26910348	26910348	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26910348T>C	ENST00000397292.3	-	12	2062	c.1645A>G	c.(1645-1647)Aca>Gca	p.T549A	PLAA_ENST00000520884.1_Missense_Mutation_p.T549A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein			17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)			AATATTTGTGTAGGGTTTGCT	0.343000													Melanoma(175;2670 2735 14091 35526)											0							SO:0001583	missense			ENST00000397292.3	0	1	hg19	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.81|10.81	1.454264|1.454264	0.26161|0.26161	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.54866|.	0.55;0.72|.	5.51|5.51	4.38|4.38	0.52667|0.52667	PUL (2);|.	0.117369|.	0.64402|.	D|.	0.000007|.	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.20685|0.20685	0.6|0.6	0.40317|0.40317	D|D	0.978782|0.978782	B;B|.	0.09022|.	0.002;0.0|.	B;B|.	0.15052|.	0.012;0.003|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.10111|.	T|.	0.7|.	-12.9958|-12.9958	6.1636|6.1636	0.20378|0.20378	0.1435:0.0753:0.0:0.7813|0.1435:0.0753:0.0:0.7813	.|.	549;549|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	A|C	549|221;75	ENSP00000380460:T549A;ENSP00000429372:T549A|.	ENSP00000380460:T549A|.	T|Y	-|-	1|2	0|0	PLAA|PLAA	26900348|26900348	0.922000|0.922000	0.31269|0.31269	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.034000|1.034000	0.30204|0.30204	2.085000|2.085000	0.62840|0.62840	0.528000|0.528000	0.53228|0.53228	ACA|TAC		TCGA-IB-7651-01A-11D-2154-08	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	0	0	0	8	332	0	59	1	7.203971e-01	2	102	0	59	2		0	0	0	0	0	2	1	9.893246e-01	8	330	0	58	2								-3.476103	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.270000	0.120000	0.490000	0.260000	0.293722	0.270000	0	1.900000e-01	3.800000e-01
IFT74	80173	broad.mit.edu	37	9	26978214	26978214	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26978214G>A	ENST00000443698.1	+	3	380	c.209G>A	c.(208-210)cGc>cAc	p.R70H	IFT74_ENST00000380062.5_Missense_Mutation_p.R70H|IFT74_ENST00000433700.1_Missense_Mutation_p.R70H|IFT74_ENST00000429045.2_Missense_Mutation_p.R70H	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74			6		all_neural(11;2.36e-10)			GTTGCCCATCGCCCTGTAACA	0.438000																								0							SO:0001583	missense			ENST00000443698.1	1	1	hg19	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427459	0.96131	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000517444;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000518614;ENST00000429045;ENST00000517866	T;T;T;T;T;T;T;T	0.55760	0.5;1.25;0.75;1.25;1.25;0.5;0.5;0.5	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80115	-0.1517	10	0.87932	D	0	-8.4313	20.0155	0.97477	0.0:0.0:1.0:0.0	.	70;70	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	H	70;70;70;70;70;70;70;70;32	ENSP00000430004:R70H;ENSP00000389224:R70H;ENSP00000430096:R70H;ENSP00000404122:R70H;ENSP00000369402:R70H;ENSP00000430526:R70H;ENSP00000393907:R70H;ENSP00000430742:R32H	ENSP00000369402:R70H	R	+	2	0	IFT74	26968214	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.314000	0.96306	2.742000	0.94016	0.591000	0.81541	CGC		TCGA-IB-7651-01A-11D-2154-08	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	0	0	0	11	273	0	63	1	6.035354e-01	4	46	0	63	2		0	0	0	0	0	2	1	9.983258e-01	11	270	0	63	2								-3.142702	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.440000	0.230000	0.730000	0.430000	0.466595	0.440000	0	3.300000e-01	5.900000e-01
KCNV2	169522	broad.mit.edu	37	9	2717904	2717904	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2717904C>T	ENST00000382082.3	+	1	403	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2			35					ACTACTACATCGAGGAAGACG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000382082.3	1	1	hg19	CCDS6447.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	1	0	0	81	437	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	81	430	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNV2	169522	broad.mit.edu	37	9	2718157	2718157	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2718157G>A	ENST00000382082.3	+	1	656	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2			35					AAGCCTGTGCGACGACTACGA	0.637000																								0							SO:0001583	missense			ENST00000382082.3	0	1	hg19	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875721	0.91664	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.77620	-1.11	5.07	5.07	0.68467	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91901	0.7436	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94262	0.7503	10	0.72032	D	0.01	.	18.4533	0.90711	0.0:0.0:1.0:0.0	.	140	Q8TDN2	KCNV2_HUMAN	N	140	ENSP00000371514:D140N	ENSP00000371514:D140N	D	+	1	0	KCNV2	2708157	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	9.855000	0.99526	2.352000	0.79861	0.462000	0.41574	GAC		TCGA-IB-7651-01A-11D-2154-08	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	1	0	1	19	80	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.999945e-01	18	79	0	11	2								-20.000000	1	1	121366	4	31	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999483	0.990000	1	9.900000e-01	1
TEK	7010	broad.mit.edu	37	9	27190608	27190608	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27190608A>G	ENST00000380036.4	+	10	1851	c.1409A>G	c.(1408-1410)tAc>tGc	p.Y470C	TEK_ENST00000406359.4_Missense_Mutation_p.Y427C|TEK_ENST00000519097.1_Missense_Mutation_p.Y323C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial			15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGAGCCTTACTTTGGGGAT	0.423000																								0							SO:0001583	missense			ENST00000380036.4	0	1	hg19	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160147	0.57368	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.73	3.33	0.38152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.349499	0.20629	N	0.088626	T	0.62109	0.2401	L	0.52573	1.65	0.41980	D	0.990798	P;D;P;D	0.64830	0.938;0.994;0.808;0.975	P;D;P;P	0.64237	0.65;0.923;0.526;0.733	T	0.61048	-0.7141	10	0.66056	D	0.02	.	10.1788	0.42955	0.735:0.0:0.0:0.265	.	323;503;427;470	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	C	323;470;427;427;280	ENSP00000430686:Y323C;ENSP00000369375:Y470C;ENSP00000383977:Y427C;ENSP00000428337:Y280C	ENSP00000343716:Y427C	Y	+	2	0	TEK	27180608	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.992000	0.56980	0.415000	0.25817	-0.403000	0.06358	TAC		TCGA-IB-7651-01A-11D-2154-08	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3	0	0	0	14	621	0	161	0	1.039226e-01	0	23	0	161	2		0	0	0	0	0	2	1	9.997081e-01	13	606	0	161	2								-3.385211	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.250000	0.140000	0.400000	0.250000	0.265052	0.250000	0	1.900000e-01	3.300000e-01
KCNV2	169522	broad.mit.edu	37	9	2719093	2719093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2719093G>A	ENST00000382082.3	+	1	1592	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	p.A452T(1)		35					GTGGTGGGCCGCGGTGAGTAC	0.602000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000382082.3	1	1	hg19	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614062	0.28712	.	.	ENSG00000168263	ENST00000382082	D	0.98313	-4.86	5.44	4.54	0.55810	Ion transport (1);	0.051120	0.85682	D	0.000000	D	0.96466	0.8847	N	0.20401	0.57	0.58432	D	0.999999	D	0.65815	0.995	P	0.55713	0.782	D	0.94666	0.7852	10	0.15499	T	0.54	.	14.1427	0.65329	0.0716:0.0:0.9284:0.0	.	452	Q8TDN2	KCNV2_HUMAN	T	452	ENSP00000371514:A452T	ENSP00000371514:A452T	A	+	1	0	KCNV2	2709093	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	6.784000	0.75084	1.299000	0.44798	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	1	0	1	47	197	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1	46	194	0	42	2								-20.000000	1	1	121410	1	27	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEK	7010	broad.mit.edu	37	9	27197484	27197484	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27197484C>T	ENST00000380036.4	+	12	2238	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L	TEK_ENST00000406359.4_Missense_Mutation_p.S556L|TEK_ENST00000519097.1_Missense_Mutation_p.S452L|RNA5SP280_ENST00000411230.1_RNA	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial			15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AACTTGACTTCGGTGCTACTT	0.463000																								0							SO:0001583	missense			ENST00000380036.4	1	1	hg19	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381519	0.42207	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.54	3.52	0.40303	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168921	0.28420	N	0.015417	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.34313	0.448;0.008;0.197;0.013	B;B;B;B	0.25759	0.063;0.005;0.027;0.005	T	0.30995	-0.9959	10	0.48119	T	0.1	.	10.2421	0.43319	0.0:0.6052:0.3212:0.0736	.	452;632;556;599	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	L	452;599;556;409	ENSP00000430686:S452L;ENSP00000369375:S599L;ENSP00000383977:S556L;ENSP00000428337:S409L	ENSP00000369375:S599L	S	+	2	0	TEK	27187484	0.037000	0.19845	0.818000	0.32626	0.966000	0.64601	1.174000	0.31932	2.619000	0.88677	0.655000	0.94253	TCG		TCGA-IB-7651-01A-11D-2154-08	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3	1	0	1	82	390	0	120	0	9.775393e-01	0	31	0	120	2		0	0	0	0	0	2	1	1	81	380	0	117	2								-3.258267	1	1	121410	2	33	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IFNK	56832	broad.mit.edu	37	9	27524894	27524894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27524894G>A	ENST00000276943.2	+	1	583	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa			1		all_neural(11;7.9e-11)			GAGATTGTCCGAGTGGAAATC	0.398000																								0							SO:0001583	missense			ENST00000276943.2	1	1	hg19	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706313	0.30232	.	.	ENSG00000147896	ENST00000276943	T	0.05447	3.44	6.16	-12.0	0.00017	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.872417	0.09714	N	0.765332	T	0.04227	0.0117	M	0.74546	2.27	0.09310	N	1	P	0.46277	0.875	B	0.33960	0.173	T	0.00204	-1.1923	10	0.72032	D	0.01	-13.632	1.707	0.02884	0.258:0.1477:0.1175:0.4768	.	187	Q9P0W0	IFNK_HUMAN	Q	187	ENSP00000276943:R187Q	ENSP00000276943:R187Q	R	+	2	0	IFNK	27514894	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-1.383000	0.02544	-2.553000	0.00478	-0.355000	0.07637	CGA		TCGA-IB-7651-01A-11D-2154-08	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	1	0	1	27	173	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	27	167	0	44	2								-3.080141	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.998372	0.990000	1	9.900000e-01	1
LINGO2	158038	broad.mit.edu	37	9	27950337	27950337	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27950337G>A	ENST00000379992.2	-	6	782	c.333C>T	c.(331-333)cgC>cgT	p.R111R	LINGO2_ENST00000308675.3_Silent_p.R111R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2			44	Melanoma(11;0.242)	all_neural(11;2.78e-09)			TGCCTTTTAGGCGGAGGGAAC	0.438000																								0							SO:0001819	synonymous_variant			ENST00000379992.2	1	1	hg19	CCDS6524.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	0	0	0	23	618	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	7.147170e-01	23	609	1	107	20								-4.010932	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.400000	0.260000	0.580000	0.400000	0.420155	0.400000	0	3.300000e-01	5.000000e-01
KIAA0020	9933	broad.mit.edu	37	9	2811514	2811514	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2811514C>T	ENST00000397885.2	-	15	1688	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020			21					CGTGTTCTTGCAGGTAGCTTA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000397885.2	1	1	hg19	CCDS6448.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	1	0	1	121	500	0	134	1	9.999999e-01	29	69	0	134	2		0	0	0	0	0	2	1	1	119	493	0	134	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ACO1	48	broad.mit.edu	37	9	32418495	32418495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32418495G>A	ENST00000309951.6	+	6	782	c.644G>A	c.(643-645)gGc>gAc	p.G215D	ACO1_ENST00000379923.1_Missense_Mutation_p.G215D|ACO1_ENST00000541043.1_Missense_Mutation_p.G116D	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble			30			LUSC - Lung squamous cell carcinoma(29;0.00813)		GATGGCTTGGGCATTCTTGGT	0.418000																								0							SO:0001583	missense			ENST00000309951.6	1	1	hg19	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966788	0.92855	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.61274	0.12;0.12;0.12	5.79	5.79	0.91817	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93025	0.6443	10	0.87932	D	0	-2.4516	18.8212	0.92097	0.0:0.0:1.0:0.0	.	251;215	Q59FI0;P21399	.;ACOC_HUMAN	D	251;215;215;215;116	ENSP00000309477:G215D;ENSP00000369255:G215D;ENSP00000438733:G116D	ENSP00000309477:G215D	G	+	2	0	ACO1	32408495	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	9.808000	0.99193	2.753000	0.94483	0.557000	0.71058	GGC		TCGA-IB-7651-01A-11D-2154-08	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	0	0	0	19	738	0	167	1	8.981823e-01	12	143	0	167	2		0	0	0	0	0	2	1	9.999885e-01	19	723	0	166	2								-2.723977	1	1	121412	1	39	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.280000	0.170000	0.430000	0.280000	0.297059	0.280000	0	2.200000e-01	3.600000e-01
DDX58	23586	broad.mit.edu	37	9	32488121	32488121	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32488121A>G	ENST00000379883.2	-	8	1191	c.1034T>C	c.(1033-1035)aTt>aCt	p.I345T	DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379868.1_Missense_Mutation_p.I142T|DDX58_ENST00000379882.1_Missense_Mutation_p.I300T	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58			27			LUSC - Lung squamous cell carcinoma(29;0.00813)		TGGAGTTAAAATGATGATGTC	0.383000																								0							SO:0001583	missense			ENST00000379883.2	1	1	hg19	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367771	0.61513	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.57	4.57	0.56435	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.669254	0.13343	N	0.395009	T	0.56247	0.1972	M	0.65320	2	0.35448	D	0.795485	P;P;P;P	0.48998	0.918;0.542;0.814;0.889	P;B;P;P	0.55545	0.519;0.277;0.778;0.726	T	0.65788	-0.6083	10	0.59425	D	0.04	-1.9774	13.2283	0.59927	1.0:0.0:0.0:0.0	.	142;300;274;345	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	T	300;345;142;274;142	ENSP00000369212:I300T;ENSP00000369213:I345T;ENSP00000369197:I142T;ENSP00000442160:I274T;ENSP00000443055:I142T	ENSP00000369197:I142T	I	-	2	0	DDX58	32478121	0.997000	0.39634	0.986000	0.45419	0.910000	0.53928	6.586000	0.74067	1.846000	0.53633	0.374000	0.22700	ATT		TCGA-IB-7651-01A-11D-2154-08	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	1	0	1	98	328	0	80	1	1	63	84	0	80	2		0	0	0	0	0	2	1	1	95	325	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOPORS	10210	broad.mit.edu	37	9	32541482	32541482	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32541482T>G	ENST00000360538.2	-	3	3157	c.3041A>C	c.(3040-3042)aAc>aCc	p.N1014T	TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase			12			LUSC - Lung squamous cell carcinoma(29;0.0181)		AGACACAATGTTACTGGGCTG	0.423000																								0							SO:0001583	missense			ENST00000360538.2	1	1	hg19	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	4.083	0.013251	0.07912	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17528	2.27;2.29	5.61	3.25	0.37280	.	0.126503	0.36134	N	0.002769	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.32781	0.384	B	0.33196	0.159	T	0.22730	-1.0208	10	0.41790	T	0.15	-16.2427	4.8212	0.13392	0.0:0.1625:0.1604:0.6771	.	1014	Q9NS56	TOPRS_HUMAN	T	1014;949	ENSP00000353735:N1014T;ENSP00000369187:N949T	ENSP00000353735:N1014T	N	-	2	0	TOPORS	32531482	0.001000	0.12720	0.125000	0.21846	0.053000	0.15095	0.768000	0.26590	0.488000	0.27723	0.528000	0.53228	AAC		TCGA-IB-7651-01A-11D-2154-08	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	1	0	1	93	379	0	94	1	1	28	74	0	94	2		0	0	0	0	0	2	1	1	92	376	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TOPORS	10210	broad.mit.edu	37	9	32542990	32542990	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32542990C>T	ENST00000360538.2	-	3	1649	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TOPORS_ENST00000379858.1_Silent_p.E446E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase			12			LUSC - Lung squamous cell carcinoma(29;0.0181)		TCTTCACTGTCTCCATTTTCT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000360538.2	1	1	hg19	CCDS6527.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	1	0	1	52	335	0	83	1	9.962946e-01	14	43	0	83	2		0	0	0	0	0	2	1	1	50	327	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999917	0.990000	1	9.900000e-01	1
TOPORS	10210	broad.mit.edu	37	9	32543588	32543588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32543588C>A	ENST00000360538.2	-	3	1051	c.935G>T	c.(934-936)gGa>gTa	p.G312V	TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase			12			LUSC - Lung squamous cell carcinoma(29;0.0181)		CACTAAAGATCCATGAGCTCC	0.378000																								0							SO:0001583	missense			ENST00000360538.2	1	1	hg19	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127595	0.37533	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17691	2.26;2.27	5.93	5.93	0.95920	.	0.000000	0.49916	D	0.000133	T	0.43787	0.1263	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15578	-1.0432	10	0.72032	D	0.01	-38.8045	19.1082	0.93305	0.0:1.0:0.0:0.0	.	312	Q9NS56	TOPRS_HUMAN	V	312;247	ENSP00000353735:G312V;ENSP00000369187:G247V	ENSP00000353735:G312V	G	-	2	0	TOPORS	32533588	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	4.654000	0.61469	2.805000	0.96524	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	1	0	1	56	286	0	69	1	9.963105e-01	12	34	0	69	2		0	0	0	0	0	2	1	1	56	283	0	69	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TOPORS	10210	broad.mit.edu	37	9	32544209	32544209	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32544209A>G	ENST00000360538.2	-	3	430	c.314T>C	c.(313-315)aTa>aCa	p.I105T	TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase			12			LUSC - Lung squamous cell carcinoma(29;0.0181)		ATCCAAGCATATAGGACACTT	0.393000																								0							SO:0001583	missense			ENST00000360538.2	1	1	hg19	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972680	0.53614	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.80653	-1.4;-1.4	5.6	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000048	D	0.85596	0.5733	H	0.95043	3.615	0.53005	D	0.999962	B	0.15473	0.013	B	0.19391	0.025	D	0.83933	0.0307	10	0.87932	D	0	-22.7446	10.7379	0.46137	0.9242:0.0:0.0758:0.0	.	105	Q9NS56	TOPRS_HUMAN	T	105;40	ENSP00000353735:I105T;ENSP00000369187:I40T	ENSP00000353735:I105T	I	-	2	0	TOPORS	32534209	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	1.076000	0.40961	0.533000	0.62120	ATA		TCGA-IB-7651-01A-11D-2154-08	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	1	0	1	87	412	0	91	1	9.914989e-01	9	28	0	91	2		0	0	0	0	0	2	1	1	85	404	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF1L	138474	broad.mit.edu	37	9	32632632	32632632	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32632632G>T	ENST00000242310.4	-	1	3035	c.2946C>A	c.(2944-2946)ttC>ttA	p.F982L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like			159			LUSC - Lung squamous cell carcinoma(29;0.0181)		TCACATAGGAGAATCCTTCAC	0.507000																								0							SO:0001583	missense			ENST00000242310.4	1	1	hg19	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164757	0.78339	.	.	ENSG00000122728	ENST00000242310	T	0.15139	2.45	1.04	-1.05	0.10036	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.113396	0.64402	D	0.000003	T	0.41488	0.1161	M	0.94021	3.485	0.53688	D	0.999975	D	0.69078	0.997	D	0.70716	0.97	T	0.24476	-1.0159	10	0.87932	D	0	.	4.2663	0.10764	0.725:0.0:0.275:0.0	.	982	Q8IZX4	TAF1L_HUMAN	L	982	ENSP00000418379:F982L	ENSP00000418379:F982L	F	-	3	2	TAF1L	32622632	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	2.705000	0.47127	-0.347000	0.08299	0.195000	0.17529	TTC		TCGA-IB-7651-01A-11D-2154-08	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2	0	0	0	20	665	0	170		0	0	0	0	170	2		0	0	0	0	0	2	1	9.999943e-01	19	655	0	169	2								-3.528977	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.330000	0.200000	0.490000	0.330000	0.344306	0.330000	0	2.600000e-01	4.100000e-01
TAF1L	138474	broad.mit.edu	37	9	32633981	32633981	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32633981G>A	ENST00000242310.4	-	1	1686	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like			159			LUSC - Lung squamous cell carcinoma(29;0.0181)		TTCTCATCAGGAATTTCCAAA	0.483000																								0							SO:0001583	missense			ENST00000242310.4	1	1	hg19	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937368	0.73557	.	.	ENSG00000122728	ENST00000242310	T	0.09350	2.99	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.76838	2.35	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.01771	-1.1277	10	0.66056	D	0.02	.	8.1579	0.31180	0.0:0.0:1.0:0.0	.	533	Q8IZX4	TAF1L_HUMAN	S	533	ENSP00000418379:P533S	ENSP00000418379:P533S	P	-	1	0	TAF1L	32623981	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	2.187000	0.42602	0.507000	0.28148	0.195000	0.17529	CCT		TCGA-IB-7651-01A-11D-2154-08	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2	1	0	0	117	615	1	132		0	0	0	1	132	2		0	0	0	0	0	2	1	1	115	608	1	133	19								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF1L	138474	broad.mit.edu	37	9	32634136	32634136	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32634136T>C	ENST00000242310.4	-	1	1531	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like			159			LUSC - Lung squamous cell carcinoma(29;0.0181)		GTACCAAGGTTTGTCATCATC	0.493000																								0							SO:0001583	missense			ENST00000242310.4	1	1	hg19	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224170	0.39300	.	.	ENSG00000122728	ENST00000242310	T	0.08282	3.11	0.479	0.479	0.16796	.	0.270402	0.37095	N	0.002249	T	0.04272	0.0118	N	0.19112	0.55	0.23232	N	0.998077	B	0.11235	0.004	B	0.10450	0.005	T	0.32561	-0.9902	10	0.48119	T	0.1	.	2.6827	0.05099	0.0:0.3869:0.0:0.6131	.	481	Q8IZX4	TAF1L_HUMAN	R	481	ENSP00000418379:K481R	ENSP00000418379:K481R	K	-	2	0	TAF1L	32624136	0.969000	0.33509	0.987000	0.45799	0.502000	0.33828	0.533000	0.23082	0.426000	0.26116	0.164000	0.16699	AAA		TCGA-IB-7651-01A-11D-2154-08	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2	1	0	0	123	520	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1	118	512	0	144	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM215	401498	broad.mit.edu	37	9	32784835	32784835	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32784835C>T	ENST00000342743.5	+	2	1019	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215			12					ATGACAGATACTGTTGTTATA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000342743.5	1	1	hg19	CCDS6530.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	1	0	1	74	312	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	73	307	0	77	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APTX	54840	broad.mit.edu	37	9	32987600	32987600	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32987600C>A	ENST00000379819.1	-	4	466	c.467G>T	c.(466-468)aGc>aTc	p.S156I	APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I|APTX_ENST00000397172.3_Intron|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000379817.2_Missense_Mutation_p.S142I|APTX_ENST00000436040.2_Missense_Mutation_p.S142I			Q7Z2E3	APTX_HUMAN	aprataxin			6			LUSC - Lung squamous cell carcinoma(29;0.0302)		GCCAGAGTTGCTCCCAGGTTC	0.488000								Editing and processing nucleases																0							SO:0001583	missense			ENST00000379819.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	3.624	-0.076943	0.07184	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000473221;ENST00000477119	D;D;D;T;D;D;D;D;D;D	0.91740	-1.92;-1.92;-1.91;0.85;-1.92;-1.91;-1.91;-2.9;-1.91;-2.42	5.28	0.073	0.14389	.	0.947215	0.09089	N	0.850069	D	0.86785	0.6016	L	0.56769	1.78	0.09310	N	1	B;P;B;P	0.39748	0.013;0.5;0.007;0.686	B;B;B;B	0.33750	0.011;0.116;0.022;0.169	T	0.75348	-0.3349	10	0.38643	T	0.18	-0.0846	5.0193	0.14352	0.0:0.5212:0.1438:0.335	.	102;156;88;156	C9JZ40;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	I	156;156;142;142;156;142;142;102;156;142;102;88	ENSP00000369153:S156I;ENSP00000311547:S156I;ENSP00000369145:S142I;ENSP00000400806:S142I;ENSP00000369147:S156I;ENSP00000420263:S142I;ENSP00000419846:S142I;ENSP00000419042:S102I;ENSP00000369141:S142I;ENSP00000419020:S102I	ENSP00000311547:S156I	S	-	2	0	APTX	32977600	0.004000	0.15560	0.055000	0.19348	0.113000	0.19764	0.523000	0.22925	0.078000	0.16900	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	1	0	1	109	562	0	117	1	1	37	116	0	117	2		0	0	0	0	0	2	1	1	108	549	0	116	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJA1	3301	broad.mit.edu	37	9	33029948	33029948	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33029948C>A	ENST00000330899.4	+	4	559	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1			6			LUSC - Lung squamous cell carcinoma(29;0.0227)		AACAAGAAAACTGGCTCTGCA	0.318000																								0							SO:0001583	missense			ENST00000330899.4	0	1	hg19	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940845	0.73557	.	.	ENSG00000086061	ENST00000330899	T	0.63255	-0.03	5.16	4.26	0.50523	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.76575	0.95;0.988	T	0.77864	-0.2429	10	0.87932	D	0	-10.4543	11.8893	0.52620	0.0:0.9141:0.0:0.0859	.	126;126	Q86TL9;P31689	.;DNJA1_HUMAN	M	126	ENSP00000369127:L126M	ENSP00000369127:L126M	L	+	1	2	DNAJA1	33019948	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.001000	0.57046	1.321000	0.45227	0.462000	0.41574	CTG		TCGA-IB-7651-01A-11D-2154-08	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1	0	0	0	9	502	0	89	1	9.997972e-01	11	935	0	89	2		0	0	0	0	0	2	1	9.938142e-01	8	494	0	89	2								-7.678662	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.200000	0.090000	0.360000	0.200000	0.218898	0.200000	0	1.400000e-01	2.800000e-01
DNAJA1	3301	broad.mit.edu	37	9	33034281	33034281	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33034281C>T	ENST00000330899.4	+	6	894	c.711C>T	c.(709-711)ggC>ggT	p.G237G	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.G80G	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1			6			LUSC - Lung squamous cell carcinoma(29;0.0227)		TGGAGCCAGGCGATATTATCA	0.368000																								0							SO:0001819	synonymous_variant			ENST00000330899.4	1	1	hg19	CCDS6533.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1	1	0	1	12	155	0	60	1	1	124	1018	0	60	2		0	0	0	0	0	2	1	9.989581e-01	11	148	0	60	2								-3.318795	1	1	121412	1	33	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.810000	0.450000	1.000000	1.000000	0.807565	0.810000	0	6.100000e-01	1
AQP7	364	broad.mit.edu	37	9	33385652	33385652	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385652G>A	ENST00000541274.1	-	5	792	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000539936.1_Silent_p.V246V			O14520	AQP7_HUMAN	aquaporin 7	p.V246V(1)		17			LUSC - Lung squamous cell carcinoma(29;0.00788)		AGTACCTGAAGACCTGTTTGC	0.607000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000541274.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	5.491	0.275672	0.10403	.	.	ENSG00000165269	ENST00000541274	T	0.57273	0.41	5.04	-0.0464	0.13847	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.16571	-1.0398	8	0.87932	D	0	-25.9005	3.6599	0.08234	0.1728:0.4699:0.2451:0.1121	.	115	B7Z7F6	.	F	115	ENSP00000438860:L115F	ENSP00000438860:L115F	L	-	1	0	AQP7	33375652	0.004000	0.15560	0.966000	0.40874	0.292000	0.27327	-1.343000	0.02642	-0.168000	0.10853	-0.232000	0.12228	CTT		TCGA-IB-7651-01A-11D-2154-08	AQP7-204	KNOWN	basic	protein_coding	protein_coding		0	0	1	92	565	0	131	1	2.590217e-01	3	4	0	131	2		0	0	0	0	0	2	1	1	90	492	0	129	2								-20.000000	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AQP3	360	broad.mit.edu	37	9	33447441	33447441	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33447441G>T	ENST00000297991.4	-	1	168	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)			8			LUSC - Lung squamous cell carcinoma(29;0.00788)		AGGGTCCCCAGGCACTCGGCC	0.677000																								0							SO:0001583	missense			ENST00000297991.4	0	1	hg19	CCDS6542.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411107	0.62399	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	D	0.87029	-2.2	5.74	3.91	0.45181	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.69185	2.1	0.50813	D	0.999891	P;D;D	0.76494	0.745;0.998;0.999	P;D;D	0.71184	0.574;0.947;0.972	D	0.89934	0.4068	10	0.56958	D	0.05	.	9.5888	0.39532	0.1625:0.0:0.8375:0.0	.	30;30;30	C9JAH5;Q92482;B4E034	.;AQP3_HUMAN;.	M	30	ENSP00000297991:L30M	ENSP00000297991:L30M	L	-	1	2	AQP3	33437441	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.387000	0.34430	0.788000	0.33755	-0.258000	0.10820	CTG		TCGA-IB-7651-01A-11D-2154-08	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	1	0	0	14	70	0	10	0	9.969181e-01	1	52	0	10	2		0	0	0	0	0	2	1	9.998293e-01	14	69	0	10	2								-19.999990	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.940000	1.000000	1.000000	0.996171	0.990000	1	9.900000e-01	1
NOL6	65083	broad.mit.edu	37	9	33463341	33463341	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33463341G>T	ENST00000455041.2	-	23	2996	c.2937C>A	c.(2935-2937)gcC>gcA	p.A979A	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)			27			LUSC - Lung squamous cell carcinoma(29;0.00788)		GGCAGAAGGAGGCAGCTGGCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000455041.2	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NOL6-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	6	209	0	38	1	6.490301e-01	7	67	0	38	2		0	0	0	0	0	2	1	9.618948e-01	6	202	0	38	2								-7.940981	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.330000	0.130000	0.630000	0.300000	0.356235	0.330000	0	2.200000e-01	4.800000e-01
NOL6	65083	broad.mit.edu	37	9	33468868	33468868	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468868G>A	ENST00000379471.2	-	8	1116	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	NOL6_ENST00000455041.2_Silent_p.G283G|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)			27			LUSC - Lung squamous cell carcinoma(29;0.00788)		ACCCACCCTGGCCCTGAAAGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000379471.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	0	0	0	40	1038	0	235	1	7.393646e-01	4	66	0	235	2		0	0	0	0	0	2	1	9.996136e-01	41	1017	1	234	16								-3.887303	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.420000	0.300000	0.560000	0.420000	0.428996	0.420000	0	3.500000e-01	4.900000e-01
UBAP2	55833	broad.mit.edu	37	9	33953440	33953440	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33953440A>G	ENST00000379238.1	-	12	1016	c.899T>C	c.(898-900)gTt>gCt	p.V300A	UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|SNORD121A_ENST00000459386.1_RNA|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A					ubiquitin associated protein 2			32			LUSC - Lung squamous cell carcinoma(29;0.00575)		ACTGTGAGGAACAGGCTTCTG	0.453000																								0							SO:0001583	missense			ENST00000379238.1	1	1	hg19	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443080	0.25987	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T;T	0.32272	2.73;2.73;2.73;2.43;2.46;2.15;1.46	5.85	3.75	0.43078	.	0.868511	0.10085	N	0.717893	T	0.12732	0.0309	N	0.05383	-0.06	0.29230	N	0.873314	B;B;B;B;B;B;B	0.21753	0.001;0.06;0.001;0.001;0.001;0.036;0.041	B;B;B;B;B;B;B	0.24974	0.004;0.012;0.001;0.001;0.001;0.005;0.057	T	0.39035	-0.9633	10	0.02654	T	1	-1.2114	3.8293	0.08867	0.4813:0.1924:0.3263:0.0	.	247;225;55;33;209;225;300	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	A	300;300;300;209;218;33;55;247;247;154	ENSP00000368540:V300A;ENSP00000416932:V300A;ENSP00000354039:V300A;ENSP00000368541:V33A;ENSP00000439329:V55A;ENSP00000404436:V247A;ENSP00000414800:V247A	ENSP00000354039:V300A	V	-	2	0	UBAP2	33943440	0.997000	0.39634	1.000000	0.80357	0.749000	0.42624	1.619000	0.36965	0.527000	0.28560	0.413000	0.27773	GTT		TCGA-IB-7651-01A-11D-2154-08	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	1	0	1	37	215	0	38	1	9.999757e-01	30	67	0	38	2		0	0	0	0	0	2	1	1	36	212	0	38	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999854	0.990000	1	9.900000e-01	1
UBAP2	55833	broad.mit.edu	37	9	34017072	34017072	+	Silent	SNP	C	C	T	rs147991027		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34017072C>T	ENST00000379238.1	-	2	192	c.75G>A	c.(73-75)acG>acA	p.T25T	UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000360802.1_Silent_p.T25T|RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000539807.1_5'UTR					ubiquitin associated protein 2			32			LUSC - Lung squamous cell carcinoma(29;0.00575)		TCTGTGGTTGCGTTGATTGTG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000379238.1	1	1	hg19	CCDS6547.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	1	0	0	36	356	0	51	1	9.832203e-01	10	56	0	51	2		0	0	0	0	0	2	1	1	35	351	0	51	2								-3.318794	1	1	121412	9	43	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.740000	1.000000	1.000000	0.957899	0.990000	1	8.800000e-01	1
KIF24	347240	broad.mit.edu	37	9	34263156	34263156	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34263156G>A	ENST00000402558.2	-	8	1482	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KIF24_ENST00000345050.2_Silent_p.I352I|KIF24_ENST00000379166.2_Silent_p.I486I|KIF24_ENST00000379174.3_Silent_p.I352I			Q5T7B8	KIF24_HUMAN	kinesin family member 24			32			LUSC - Lung squamous cell carcinoma(29;0.0107)		CCAGTGCTCGGATACATTCCT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000402558.2	1	1	hg19	CCDS6551.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5	1	0	1	18	82	0	19	0	1.631815e-01	0	4	0	19	2		0	0	0	0	0	2	1	9.999885e-01	18	80	0	19	2								-13.067640	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999032	0.990000	1	9.900000e-01	1
KIAA1161	57462	broad.mit.edu	37	9	34372078	34372078	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34372078G>A	ENST00000297625.7	-	2	987	c.762C>T	c.(760-762)gaC>gaT	p.D254D		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161			12			LUSC - Lung squamous cell carcinoma(29;0.0107)		TGGAGGTGACGTCTGAGCCCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000297625.7	0	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	0	0	0	6	239	0	30	1	3.926439e-01	5	44	0	30	2		0	0	0	0	0	2	1	9.650722e-01	6	239	0	30	2								-7.251114	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.290000	0.120000	0.550000	0.270000	0.314088	0.290000	0	1.900000e-01	4.200000e-01
DNAI1	27019	broad.mit.edu	37	9	34500719	34500719	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34500719G>T	ENST00000242317.4	+	11	1072		c.e11-1			NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1			34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)		GTGTGTTTAAGATTTTAAGTA	0.522000									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001630	splice_region_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000242317.4	1	1	hg19	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201942	0.79127	.	.	ENSG00000122735	ENST00000242317	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4324	0.83853	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAI1	34490719	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	8.857000	0.92250	2.539000	0.85634	0.563000	0.77884	.		TCGA-IB-7651-01A-11D-2154-08	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1	1	0	1	14	100	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	9.998078e-01	14	99	0	38	2								-19.996900	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.770000	1.000000	1.000000	0.982252	0.990000	1	9.900000e-01	1
DNAI1	27019	broad.mit.edu	37	9	34506735	34506735	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34506735C>A	ENST00000242317.4	+	13	1345	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1			34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)		TCTCGACATCCACGTGGACCA	0.592000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000242317.4	1	1	hg19	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820800	0.71028	.	.	ENSG00000122735	ENST00000242317	T	0.69806	-0.43	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72228	0.3434	M	0.79805	2.47	0.80722	D	1	B	0.25169	0.119	B	0.34590	0.186	T	0.69643	-0.5090	10	0.31617	T	0.26	.	16.1296	0.81418	0.0:1.0:0.0:0.0	.	392	Q9UI46	DNAI1_HUMAN	N	392	ENSP00000242317:H392N	ENSP00000242317:H392N	H	+	1	0	DNAI1	34496735	1.000000	0.71417	0.953000	0.39169	0.409000	0.31022	7.298000	0.78815	2.478000	0.83669	0.563000	0.77884	CAC		TCGA-IB-7651-01A-11D-2154-08	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1	1	0	1	55	293	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	54	282	0	76	2								-2.977768	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
ARID3C	138715	broad.mit.edu	37	9	34621468	34621468	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34621468C>A	ENST00000378909.2	-	7	1318	c.1226G>T	c.(1225-1227)aGc>aTc	p.S409I	DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)			14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)		GGGCAAGATGCTGGAAGGGGG	0.622000																								0							SO:0001583	missense			ENST00000378909.2	1	1	hg19	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632287	0.29068	.	.	ENSG00000205143	ENST00000378909	T	0.64438	-0.1	4.37	2.52	0.30459	.	0.251286	0.28688	N	0.014467	T	0.48677	0.1513	L	0.44542	1.39	0.28118	N	0.930726	P	0.42039	0.769	B	0.39185	0.293	T	0.42916	-0.9423	10	0.42905	T	0.14	-6.1084	6.6536	0.22975	0.0:0.7823:0.0:0.2177	.	409	A6NKF2	ARI3C_HUMAN	I	409	ENSP00000368189:S409I	ENSP00000368189:S409I	S	-	2	0	ARID3C	34611468	0.001000	0.12720	0.636000	0.29352	0.735000	0.41995	0.277000	0.18734	0.593000	0.29745	0.549000	0.68633	AGC		TCGA-IB-7651-01A-11D-2154-08	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	0	0	0	9	185	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	9.937053e-01	9	179	0	39	2								-11.397470	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.530000	0.260000	0.910000	0.510000	0.560474	0.530000	0	3.800000e-01	7.200000e-01
SIGMAR1	10280	broad.mit.edu	37	9	34635839	34635839	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34635839G>A	ENST00000277010.4	-	4	535	c.462C>T	c.(460-462)caC>caT	p.H154H	SIGMAR1_ENST00000378892.1_Silent_p.H65H|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.H123H	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1			2				Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	CACCAGGCCCGTGTACTACCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000277010.4	1	1	hg19	CCDS6562.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	1	0	1	41	234	0	64	1	1	66	177	0	64	2		0	0	0	0	0	2	1	1	39	231	0	63	2								-19.840670	1	1	121410	1	31	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999937	0.990000	1	9.900000e-01	1
GALT	2592	broad.mit.edu	37	9	34648390	34648390	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34648390C>A	ENST00000378842.3	+	7	666	c.624C>A	c.(622-624)gcC>gcA	p.A208A	GALT_ENST00000556278.1_Silent_p.A123A|GALT_ENST00000450095.2_Silent_p.A99A|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase			16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)		CTCAGCAGGCCTATAAGAGTC	0.572000									Galactosemia															0							SO:0001819	synonymous_variant	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	ENST00000378842.3	1	1	hg19	CCDS6565.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	1	0	1	98	400	0	84	1	9.997159e-01	8	43	0	84	2		0	0	0	0	0	2	1	1	96	394	0	83	2								-3.575686	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCL27	10850	broad.mit.edu	37	9	34662348	34662348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34662348G>T	ENST00000259631.4	-	2	194	c.136C>A	c.(136-138)Cta>Ata	p.L46I	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27			5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)		TTCCTCAGTAGCTTGTCTGAG	0.582000																								0							SO:0001583	missense			ENST00000259631.4	1	1	hg19	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786428	0.70337	.	.	ENSG00000213927	ENST00000259631	T	0.05139	3.49	5.37	3.46	0.39613	Chemokine interleukin-8-like domain (2);	0.000000	0.43579	D	0.000546	T	0.08044	0.0201	L	0.57536	1.79	0.28183	N	0.928067	B	0.31769	0.339	B	0.33690	0.168	T	0.10941	-1.0608	10	0.66056	D	0.02	-4.2276	7.1555	0.25635	0.0913:0.0:0.7357:0.173	.	46	Q9Y4X3	CCL27_HUMAN	I	46	ENSP00000259631:L46I	ENSP00000259631:L46I	L	-	1	2	CCL27	34652348	0.997000	0.39634	0.989000	0.46669	0.914000	0.54420	1.300000	0.33436	1.355000	0.45865	0.557000	0.71058	CTA		TCGA-IB-7651-01A-11D-2154-08	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	1	0	1	38	183	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	37	179	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
CCL21	6366	broad.mit.edu	37	9	34709608	34709608	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34709608A>T	ENST00000259607.2	-	3	317	c.260T>A	c.(259-261)aTg>aAg	p.M87K	CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21			4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)		CAGATGCTGCATCAGCTGCTG	0.592000																								0							SO:0001583	missense			ENST00000259607.2	1	1	hg19	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505179	0.85282	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.06449	3.3;3.3	5.51	5.51	0.81932	Chemokine interleukin-8-like domain (3);	0.085402	0.51477	D	0.000087	T	0.21267	0.0512	M	0.81239	2.535	0.44976	D	0.997993	D	0.59357	0.985	P	0.57620	0.824	T	0.00433	-1.1742	10	0.87932	D	0	-29.6242	12.2957	0.54844	1.0:0.0:0.0:0.0	.	87	O00585	CCL21_HUMAN	K	87	ENSP00000259607:M87K;ENSP00000368069:M87K	ENSP00000259607:M87K	M	-	2	0	CCL21	34699608	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.071000	0.57556	2.212000	0.71576	0.528000	0.53228	ATG		TCGA-IB-7651-01A-11D-2154-08	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	0	0	1	67	280	0	77	0	1	0	323	0	77	2		0	0	0	0	0	2	1	1	67	276	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1045	23349	broad.mit.edu	37	9	34972508	34972508	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34972508G>T	ENST00000242315.3	+	3	626	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045			19			LUSC - Lung squamous cell carcinoma(32;0.00575)		CACAGAAACAGGCTGGAGCTG	0.572000																								0							SO:0001583	missense			ENST00000242315.3	1	1	hg19	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	33	5.206604	0.95033	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	5.73	0.89815	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80106	-0.1521	9	0.87932	D	0	-2.4144	18.8848	0.92372	0.0:0.0:1.0:0.0	.	182	Q9UPV7	K1045_HUMAN	C	182	.	ENSP00000242315:G182C	G	+	1	0	KIAA1045	34962508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.743000	0.91592	2.700000	0.92200	0.655000	0.94253	GGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	1	0	1	86	341	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	1	83	332	0	77	2								-2.645208	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DNAJB5	25822	broad.mit.edu	37	9	34993428	34993428	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34993428G>A	ENST00000541010.1	+	1	3210	c.198G>A	c.(196-198)caG>caA	p.Q66Q	DNAJB5_ENST00000312316.5_Silent_p.Q66Q|DNAJB5_ENST00000454002.2_Silent_p.Q138Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q|DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5			12			LUSC - Lung squamous cell carcinoma(32;0.00575)		TGTATGACCAGTATGGGGAGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000541010.1	1	1	hg19	CCDS35007.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1	1	0	0	112	457	0	121	1	9.996092e-01	11	37	0	121	2		0	0	0	0	0	2	1	1	111	448	0	120	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf131	138724	broad.mit.edu	37	9	35044417	35044417	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35044417C>A	ENST00000312292.5	+	2	1838	c.1791C>A	c.(1789-1791)tcC>tcA	p.S597S	C9orf131_ENST00000354479.5_Silent_p.S524S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Silent_p.S549S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131			39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		CAAAAAACTCCTGGGCCTCTA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000312292.5	1	1	hg19	CCDS6572.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	1	0	1	186	638	0	174		0	0	0	0	174	2		0	0	0	0	0	2	1	1	182	629	0	172	2								-4.210462	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf131	138724	broad.mit.edu	37	9	35045017	35045017	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35045017C>T	ENST00000312292.5	+	2	2438	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	C9orf131_ENST00000354479.5_Silent_p.S724S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Silent_p.S749S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131			39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		TGCGGCAGAGCCCTGCCTCCA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000312292.5	1	1	hg19	CCDS6572.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	1	0	0	213	1078	0	265		0	0	0	0	265	2		0	0	0	0	0	2	1	1	203	1044	0	260	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FANCG	2189	broad.mit.edu	37	9	35075020	35075020	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35075020C>T	ENST00000378643.3	-	12	2031	c.1540G>A	c.(1540-1542)Gca>Aca	p.A514T	FANCG_ENST00000476212.1_Intron|VCP_ENST00000358901.6_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G			28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		AGGGCGGCTGCCCGAAGCTGC	0.567000			Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks						yes	Rec		Fanconi anaemia G	9	9p13	2189	Fanconi anemia, complementation group G		L	0							SO:0001583	missense			ENST00000378643.3	1	1	hg19	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257020	0.39896	.	.	ENSG00000221829	ENST00000378643	T	0.55760	0.5	5.7	1.54	0.23209	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.32941	0.0846	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18713	-1.0328	9	0.29301	T	0.29	0.5318	4.7872	0.13230	0.4716:0.354:0.0:0.1744	.	514	O15287	FANCG_HUMAN	T	514	ENSP00000367910:A514T	ENSP00000367910:A514T	A	-	1	0	FANCG	35065020	0.001000	0.12720	0.203000	0.23512	0.973000	0.67179	0.366000	0.20365	0.004000	0.14682	-0.181000	0.13052	GCA		TCGA-IB-7651-01A-11D-2154-08	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	1	0	1	48	317	0	75	1	9.955288e-01	17	40	0	75	2		0	0	0	0	0	2	1	1	47	310	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999808	0.990000	1	9.900000e-01	1
PIGO	84720	broad.mit.edu	37	9	35093540	35093540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35093540C>T	ENST00000378617.3	-	5	1211	c.817G>A	c.(817-819)Gta>Ata	p.V273I	PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Missense_Mutation_p.V273I|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Missense_Mutation_p.V273I|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O			38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		CCAGCCACTACCAGCAGTGTG	0.498000																								0							SO:0001583	missense			ENST00000378617.3	1	1	hg19	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991476	0.74703	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.285709	0.34386	N	0.004009	T	0.22513	0.0543	N	0.17901	0.54	0.45318	D	0.998311	P;B	0.46512	0.879;0.091	P;B	0.45639	0.488;0.114	T	0.01036	-1.1473	10	0.25106	T	0.35	-22.0031	9.7401	0.40413	0.1326:0.6196:0.2478:0.0	.	273;273	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	273	ENSP00000298004:V273I;ENSP00000367880:V273I;ENSP00000339382:V273I;ENSP00000354678:V273I	ENSP00000298004:V273I	V	-	1	0	PIGO	35083540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.673000	0.46858	2.894000	0.99253	0.655000	0.94253	GTA		TCGA-IB-7651-01A-11D-2154-08	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	1	0	1	16	132	0	28	1	9.997097e-01	22	96	0	28	2		0	0	0	0	0	2	1	9.999376e-01	16	128	0	28	2								-19.999850	1	1	121412	2	28	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.720000	1.000000	1.000000	0.971022	0.990000	1	9.300000e-01	1
PIGO	84720	broad.mit.edu	37	9	35095227	35095227	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35095227C>T	ENST00000378617.3	-	2	730	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000298004.5_Silent_p.E112E|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000341666.3_Silent_p.E112E|PIGO_ENST00000361778.2_Silent_p.E112E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O			38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		GGGGCTGAATCTCCAGGATCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000378617.3	1	1	hg19	CCDS6575.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	1	0	1	130	557	0	108	1	9.999997e-01	29	63	0	108	2		0	0	0	0	0	2	1	1	129	549	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STOML2	30968	broad.mit.edu	37	9	35101137	35101137	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101137G>A	ENST00000356493.5	-	7	781	c.719C>T	c.(718-720)gCa>gTa	p.A240V	STOML2_ENST00000487490.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000452248.2_Missense_Mutation_p.A195V	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2			16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		CTGACCTGCTGCCTGATTTAT	0.557000																								0							SO:0001583	missense			ENST00000356493.5	1	1	hg19	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006908	0.93287	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.99382	-4.06;-5.8	5.26	5.26	0.73747	.	0.051786	0.85682	D	0.000000	D	0.99645	0.9869	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.97737	1.0206	10	0.87932	D	0	-0.1484	19.0555	0.93062	0.0:0.0:1.0:0.0	.	195;240	B4E1K7;Q9UJZ1	.;STML2_HUMAN	V	240;195	ENSP00000348886:A240V;ENSP00000395743:A195V	ENSP00000348886:A240V	A	-	2	0	STOML2	35091137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.620000	0.98373	2.739000	0.93911	0.563000	0.77884	GCA		TCGA-IB-7651-01A-11D-2154-08	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	0	0	0	25	678	0	133	1	9.999616e-01	5	425	0	133	2		0	0	0	0	0	2	1	9.999997e-01	22	653	0	131	2								-3.471162	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.400000	0.260000	0.570000	0.400000	0.415490	0.400000	0	3.300000e-01	4.900000e-01
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2			16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		ACGGAGGCAGCGGATACCCCA	0.567000																								0							SO:0001583	missense			ENST00000356493.5	1	1	hg19	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211436	0.79240	.	.	ENSG00000165283	ENST00000356493	D	0.94723	-3.5	5.26	4.34	0.51931	.	0.176889	0.46145	D	0.000309	D	0.94066	0.8098	L	0.47016	1.485	0.80722	D	1	D	0.58970	0.984	P	0.56788	0.806	D	0.93413	0.6770	10	0.62326	D	0.03	-0.8274	8.4582	0.32912	0.1551:0.7677:0.0:0.0772	.	171	Q9UJZ1	STML2_HUMAN	H	171	ENSP00000348886:R171H	ENSP00000348886:R171H	R	-	2	0	STOML2	35091490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.740000	0.55082	1.411000	0.46957	0.563000	0.77884	CGC		TCGA-IB-7651-01A-11D-2154-08	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	1	0	1	70	790	0	183	1	1	55	418	0	183	2		0	0	0	0	0	2	1	1	69	778	0	182	2								-15.434760	1	1	121412	1	32	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.910000	0.720000	1.000000	1.000000	0.912802	0.910000	1	8.100000e-01	1
UNC13B	10497	broad.mit.edu	37	9	35381663	35381663	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35381663T>C	ENST00000378495.3	+	19	2577	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	UNC13B_ENST00000396787.1_Silent_p.I797I|UNC13B_ENST00000378496.4_Silent_p.I785I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)			63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		CCCAAGAAATTGTGGATGAAT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000378495.3	1	1	hg19	CCDS6579.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	0	0	0	126	645	1	164	1	9.992471e-01	22	46	1	164	3		0	0	0	0	0	2	1	1	122	637	1	163	17								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC13B	10497	broad.mit.edu	37	9	35403836	35403836	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35403836C>T	ENST00000378495.3	+	39	4804	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	UNC13B_ENST00000396787.1_Silent_p.L1559L|UNC13B_ENST00000378496.4_Silent_p.L1547L|ATP8B5P_ENST00000430846.1_RNA	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)			63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		CGTGCTAGGGCTGGCTGTGAT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000378495.3	1	1	hg19	CCDS6579.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	1	0	1	50	314	0	52	1	9.999987e-01	37	90	0	52	2		0	0	0	0	0	2	1	1	50	309	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999930	0.990000	1	9.900000e-01	1
RUSC2	9853	broad.mit.edu	37	9	35548113	35548113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548113C>T	ENST00000455600.1	+	2	2164	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2			32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		GCAGCCATGGCCGGGCCTGGC	0.657000																								0							SO:0001583	missense			ENST00000455600.1	1	1	hg19	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369892	0.42003	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.30981	1.51;1.51	5.67	4.78	0.61160	.	0.353263	0.30244	N	0.010071	T	0.23330	0.0564	L	0.32530	0.975	0.27433	N	0.953941	B	0.16166	0.016	B	0.15870	0.014	T	0.12293	-1.0553	10	0.18710	T	0.47	-0.8445	13.4712	0.61283	0.0:0.9253:0.0:0.0747	.	532	Q8N2Y8	RUSC2_HUMAN	V	532	ENSP00000355177:A532V;ENSP00000393922:A532V	ENSP00000355177:A532V	A	+	2	0	RUSC2	35538113	0.972000	0.33761	0.971000	0.41717	0.814000	0.46013	2.759000	0.47573	1.403000	0.46800	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	1	0	1	46	193	0	46	1	9.998781e-01	9	51	0	46	2		0	0	0	0	0	2	1	1	45	192	0	45	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
RUSC2	9853	broad.mit.edu	37	9	35548220	35548220	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548220G>A	ENST00000455600.1	+	2	2271	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2			32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		GAGTGTTGGGGACTCCTCCCA	0.637000																								0							SO:0001583	missense			ENST00000455600.1	1	1	hg19	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125658	0.77436	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.26957	1.7;1.7	5.86	5.86	0.93980	.	0.184440	0.47852	D	0.000209	T	0.42517	0.1206	L	0.29908	0.895	0.47862	D	0.99953	D	0.89917	1.0	D	0.83275	0.996	T	0.19745	-1.0296	10	0.59425	D	0.04	-21.526	19.1701	0.93574	0.0:0.0:1.0:0.0	.	568	Q8N2Y8	RUSC2_HUMAN	N	568	ENSP00000355177:D568N;ENSP00000393922:D568N	ENSP00000355177:D568N	D	+	1	0	RUSC2	35538220	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	6.601000	0.74136	2.777000	0.95525	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	1	0	1	24	138	0	34	1	9.587727e-01	7	26	0	34	2		0	0	0	0	0	2	1	9.999998e-01	23	137	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.998909	0.990000	1	9.900000e-01	1
FAM166B	730112	broad.mit.edu	37	9	35563812	35563812	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35563812C>A	ENST00000399742.2	-	1	84	c.14G>T	c.(13-15)aGc>aTc	p.S5I	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B			9					TATGAAGGTGCTGGCCACAGC	0.577000																								0							SO:0001583	missense			ENST00000399742.2	1	1	hg19	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292916	0.60086	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.4	3.53	0.40419	.	0.689568	0.11534	U	0.554378	T	0.40423	0.1116	N	0.22421	0.69	0.24533	N	0.994109	D;D;P;D	0.67145	0.981;0.996;0.483;0.996	P;P;B;D	0.63877	0.77;0.853;0.163;0.919	T	0.16364	-1.0405	9	0.59425	D	0.04	-5.9631	6.9594	0.24590	0.0:0.7324:0.176:0.0917	.	5;5;5;5	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	I	5	.	ENSP00000382646:S5I	S	-	2	0	FAM166B	35553812	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	1.156000	0.31712	0.808000	0.34231	0.650000	0.86243	AGC		TCGA-IB-7651-01A-11D-2154-08	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	1	0	0	14	183	0	34	0	9.536121e-02	0	7	0	34	2		0	0	0	0	0	2	1	9.996942e-01	12	175	0	34	2								-6.059978	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.800000	0.460000	1.000000	1.000000	0.803718	0.800000	0	6.200000e-01	1
TESK1	7016	broad.mit.edu	37	9	35609358	35609358	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35609358C>A	ENST00000336395.5	+	10	1750	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S	TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1			27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		GCACCTGTTCCTCGGCCTCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000336395.5	1	1	hg19	CCDS6580.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	1	0	0	18	395	0	82	1	9.848271e-01	6	145	0	82	2		0	0	0	0	0	2	1	9.999788e-01	18	385	0	81	2								-3.038528	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.490000	0.300000	0.740000	0.490000	0.512628	0.490000	0	3.900000e-01	6.200000e-01
CA9	768	broad.mit.edu	37	9	35675756	35675756	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35675756A>G	ENST00000378357.4	+	3	537		c.e3-1			NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX			17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTCCCACCCCAGGCGACCCGC	0.706000																								0							SO:0001630	splice_region_variant			ENST00000378357.4	1	1	hg19	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913709	0.52439	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9181	0.47148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CA9	35665756	0.999000	0.42202	0.665000	0.29768	0.679000	0.39708	3.086000	0.50159	2.071000	0.62044	0.379000	0.24179	.		TCGA-IB-7651-01A-11D-2154-08	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	1	0	0	11	218	0	44	0	0	1	0	0	44	2		0	0	0	0	0	2	1	9.982927e-01	11	214	0	44	2								-13.844620	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.550000	0.290000	0.900000	0.530000	0.573851	0.550000	0	4.100000e-01	7.300000e-01
TPM2	7169	broad.mit.edu	37	9	35685748	35685748	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685748G>A	ENST00000360958.2	-	3	374	c.270C>T	c.(268-270)cgC>cgT	p.R90R	TPM2_ENST00000378300.5_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R|TPM2_ENST00000378292.3_Silent_p.R90R	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)			15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		GCTGAATGCGGCGGTTCAGGG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000360958.2	1	1	hg19	CCDS6587.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	1	0	1	77	371	0	84	1	1	24	1631	0	84	2		0	0	0	0	0	2	1	1	76	363	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLN1	7094	broad.mit.edu	37	9	35697899	35697899	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35697899C>A	ENST00000314888.9	-	57	7868	c.7515G>T	c.(7513-7515)caG>caT	p.Q2505H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q2393H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		GCATTTCTTCCTGTGCTGCGA	0.562000																								0							SO:0001583	missense			ENST00000314888.9	0	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995911	0.54147	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.54071	0.59;0.59	5.09	0.961	0.19638	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.70230	-0.4929	10	0.72032	D	0.01	-16.1363	9.2791	0.37718	0.0:0.6089:0.0:0.3911	.	2505	Q9Y490	TLN1_HUMAN	H	2505;2393	ENSP00000316029:Q2505H;ENSP00000442981:Q2393H	ENSP00000316029:Q2505H	Q	-	3	2	TLN1	35687899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.254000	0.32897	0.327000	0.23409	0.563000	0.77884	CAG		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	0	0	8	291	0	66	1	9.999924e-01	25	1062	0	66	2		0	0	0	0	0	2	1	9.888820e-01	7	287	0	65	2								-3.581311	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.310000	0.140000	0.560000	0.300000	0.332898	0.310000	0	2.200000e-01	4.400000e-01
TLN1	7094	broad.mit.edu	37	9	35699410	35699410	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35699410A>C	ENST00000314888.9	-	51	7170	c.6817T>G	c.(6817-6819)Tca>Gca	p.S2273A	TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		ACACGCTTTGAATGTCCTGTC	0.567000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.590915	0.86851	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73789	-0.78;-0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	M	0.86953	2.85	0.58432	D	0.999999	P	0.47762	0.9	P	0.54759	0.76	D	0.87951	0.2723	10	0.72032	D	0.01	-6.979	16.1379	0.81502	1.0:0.0:0.0:0.0	.	2273	Q9Y490	TLN1_HUMAN	A	2273;2161	ENSP00000316029:S2273A;ENSP00000442981:S2161A	ENSP00000316029:S2273A	S	-	1	0	TLN1	35689410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.324000	0.96373	2.221000	0.72209	0.529000	0.55759	TCA		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	0	10	210	0	65	1	9.999997e-01	27	806	0	65	2		0	0	0	0	0	2	1	9.965558e-01	10	203	0	64	2								-12.669710	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.520000	0.270000	0.870000	0.510000	0.546940	0.520000	0	3.800000e-01	7.000000e-01
TLN1	7094	broad.mit.edu	37	9	35705570	35705570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35705570G>A	ENST00000314888.9	-	43	6064	c.5711C>T	c.(5710-5712)gCg>gTg	p.A1904V	TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		AGCAGCCACCGCTGCAGGCTT	0.602000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058624	0.55325	0.0	1.16E-4	ENSG00000137076	ENST00000314888	T	0.25749	1.78	5.66	5.66	0.87406	Vinculin-binding site-containing domain (1);	0.102540	0.64402	D	0.000003	T	0.26085	0.0636	L	0.49350	1.555	0.80722	D	1	B	0.28324	0.207	B	0.21917	0.037	T	0.05338	-1.0891	10	0.16420	T	0.52	-10.0954	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1904	Q9Y490	TLN1_HUMAN	V	1904	ENSP00000316029:A1904V	ENSP00000316029:A1904V	A	-	2	0	TLN1	35695570	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.598000	0.82745	2.662000	0.90505	0.555000	0.69702	GCG		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1	122	523	0	100	1	1	38	401	0	100	2		0	0	0	0	0	2	1	1	119	514	0	98	2								-20.000000	1	1	121408	7	41	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLN1	7094	broad.mit.edu	37	9	35707247	35707247	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35707247G>A	ENST00000314888.9	-	37	5130	c.4777C>T	c.(4777-4779)Cgg>Tgg	p.R1593W	TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		ATGGCAGCCCGACCCTGGGGA	0.607000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227786	0.58668	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70986	-0.51;-0.53	5.69	3.84	0.44239	.	0.248692	0.42053	N	0.000764	T	0.72867	0.3514	M	0.73217	2.22	0.46298	D	0.998973	D	0.67145	0.996	P	0.51487	0.671	T	0.72584	-0.4249	10	0.62326	D	0.03	-10.573	6.5407	0.22378	0.0692:0.1302:0.6655:0.1351	.	1593	Q9Y490	TLN1_HUMAN	W	1593	ENSP00000316029:R1593W;ENSP00000442981:R1593W	ENSP00000316029:R1593W	R	-	1	2	TLN1	35697247	0.265000	0.24102	0.998000	0.56505	0.738000	0.42128	2.769000	0.47654	0.744000	0.32741	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1	52	371	0	79	1	1	60	372	0	79	2		0	0	0	0	0	2	1	1	51	360	0	77	2								-3.318801	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999554	0.990000	1	9.900000e-01	1
TLN1	7094	broad.mit.edu	37	9	35708471	35708471	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35708471A>G	ENST00000314888.9	-	34	4690	c.4337T>C	c.(4336-4338)cTg>cCg	p.L1446P	TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P|TLN1_ENST00000464379.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		GACACCAACCAGATATGCAGC	0.522000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284188	0.80803	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30981	1.51;1.51	5.06	5.06	0.68205	.	0.083774	0.50627	D	0.000107	T	0.61085	0.2319	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69423	-0.5149	10	0.87932	D	0	-9.0589	14.8386	0.70206	1.0:0.0:0.0:0.0	.	1446	Q9Y490	TLN1_HUMAN	P	1446	ENSP00000316029:L1446P;ENSP00000442981:L1446P	ENSP00000316029:L1446P	L	-	2	0	TLN1	35698471	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.335000	0.96500	1.899000	0.54978	0.459000	0.35465	CTG		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1	53	288	0	75	1	1	42	392	0	75	2		0	0	0	0	0	2	1	1	50	276	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TLN1	7094	broad.mit.edu	37	9	35714813	35714813	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35714813C>G	ENST00000314888.9	-	22	3168	c.2815G>C	c.(2815-2817)Gcc>Ccc	p.A939P	TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		GGGGTAGAGGCTGCGTGCTGA	0.602000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717139	0.48622	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70282	-0.45;-0.47	5.7	2.84	0.33178	.	0.102948	0.64402	D	0.000002	T	0.63581	0.2523	L	0.60455	1.87	0.58432	D	0.999996	P	0.40398	0.716	B	0.40228	0.323	T	0.60378	-0.7275	10	0.62326	D	0.03	-5.7164	6.1779	0.20455	0.3731:0.4927:0.0:0.1343	.	939	Q9Y490	TLN1_HUMAN	P	939	ENSP00000316029:A939P;ENSP00000442981:A939P	ENSP00000316029:A939P	A	-	1	0	TLN1	35704813	0.557000	0.26546	0.994000	0.49952	0.622000	0.37654	1.239000	0.32719	0.329000	0.23460	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	0	1	74	443	0	91	1	1	40	267	0	91	2		0	0	0	0	0	2	1	1	72	435	0	90	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TLN1	7094	broad.mit.edu	37	9	35715097	35715097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715097C>T	ENST00000314888.9	-	21	3066	c.2713G>A	c.(2713-2715)Gcg>Acg	p.A905T	TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		GCATTCTGCGCAGCTGCATTG	0.622000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557532	0.65425	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.72282	-0.58;-0.64	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.37697	1.125	0.80722	D	1	B	0.31009	0.303	B	0.32393	0.145	T	0.61431	-0.7064	10	0.34782	T	0.22	-13.5951	19.7629	0.96329	0.0:1.0:0.0:0.0	.	905	Q9Y490	TLN1_HUMAN	T	905	ENSP00000316029:A905T;ENSP00000442981:A905T	ENSP00000316029:A905T	A	-	1	0	TLN1	35705097	1.000000	0.71417	0.876000	0.34364	0.431000	0.31685	7.783000	0.85696	2.666000	0.90696	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	0	1	112	526	0	136	1	1	73	251	0	136	2		0	0	0	0	0	2	1	1	109	518	0	134	2								-20.000000	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLN1	7094	broad.mit.edu	37	9	35715139	35715139	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715139G>A	ENST00000314888.9	-	21	3024	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		GCTGCCTCCCGCAGCCGCTGC	0.612000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324828	0.81580	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71461	-0.57;-0.57	5.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85871	0.1416	10	0.72032	D	0.01	-18.1456	13.4827	0.61345	0.0:0.0:0.5988:0.4011	.	891	Q9Y490	TLN1_HUMAN	W	891	ENSP00000316029:R891W;ENSP00000442981:R891W	ENSP00000316029:R891W	R	-	1	2	TLN1	35705139	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	2.674000	0.46867	1.361000	0.45981	0.561000	0.74099	CGG		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1	63	327	0	79	1	1	58	284	0	79	2		0	0	0	0	0	2	1	1	63	325	0	78	2								-1.876805	0	0	121304	1	30	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLN1	7094	broad.mit.edu	37	9	35725685	35725685	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35725685C>T	ENST00000314888.9	-	2	360	c.7G>A	c.(7-9)Gca>Aca	p.A3T	TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1			85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		AGTGAAAGTGCAACCATGGTG	0.532000																								0							SO:0001583	missense			ENST00000314888.9	1	1	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148616	0.57151	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68479	-0.33;-0.33	5.54	5.54	0.83059	.	0.199179	0.53938	D	0.000058	T	0.59004	0.2162	L	0.27053	0.805	0.80722	D	1	B;B	0.34264	0.446;0.038	B;B	0.38327	0.271;0.024	T	0.54153	-0.8336	10	0.20519	T	0.43	-13.2392	19.48	0.95005	0.0:1.0:0.0:0.0	.	3;3	Q5TCU5;Q9Y490	.;TLN1_HUMAN	T	3	ENSP00000316029:A3T;ENSP00000442981:A3T	ENSP00000316029:A3T	A	-	1	0	TLN1	35715685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.025000	0.70864	2.606000	0.88127	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1	164	941	0	228	1	1	16	176	0	228	2		0	0	0	0	0	2	1	1	163	924	0	226	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBA2	57704	broad.mit.edu	37	9	35737268	35737268	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35737268C>T	ENST00000378103.3	-	17	3205	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000545786.1_Silent_p.Q900Q|GBA2_ENST00000378088.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2			21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		CCTTTTTGTGCTGCTGCTGTT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000378103.3	1	1	hg19	CCDS6589.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	0	72	423	0	94	1	9.999923e-01	24	76	0	94	2		0	0	0	0	0	2	1	1	72	414	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GBA2	57704	broad.mit.edu	37	9	35739666	35739666	+	Missense_Mutation	SNP	C	C	T	rs148982744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35739666C>T	ENST00000378103.3	-	9	2064	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	GBA2_ENST00000378094.4_Missense_Mutation_p.R514H|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2			21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		TAGGGTGGGGCGGAGGTGACA	0.552000																								0							SO:0001583	missense			ENST00000378103.3	1	1	hg19	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380813	0.11466	0.0	1.16E-4	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.5	0.104	0.14531	Six-hairpin glycosidase-like (1);	0.226574	0.44688	N	0.000428	T	0.16981	0.0408	L	0.36672	1.1	0.19300	N	0.999976	B;D;B	0.55385	0.002;0.971;0.001	B;B;B	0.41571	0.001;0.36;0.0	T	0.16012	-1.0417	9	0.41790	T	0.15	-0.8058	1.4704	0.02414	0.1622:0.3204:0.1134:0.404	.	520;514;514	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	H	514;514;520	.	ENSP00000367334:R514H	R	-	2	0	GBA2	35729666	0.635000	0.27199	0.295000	0.24960	0.003000	0.03518	0.345000	0.19979	0.081000	0.16988	-1.242000	0.01536	CGC		TCGA-IB-7651-01A-11D-2154-08	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	1	23	181	0	55	1	9.924094e-01	16	48	0	55	2		0	0	0	0	0	2	1	9.999994e-01	23	175	0	55	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.830000	1.000000	1.000000	0.987404	0.990000	1	9.900000e-01	1
GBA2	57704	broad.mit.edu	37	9	35740847	35740847	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35740847G>A	ENST00000378103.3	-	5	1524	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GBA2_ENST00000378094.4_Missense_Mutation_p.T334M|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2			21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		CACAGCCATCGTGTAGGGGTT	0.602000																								0							SO:0001583	missense			ENST00000378103.3	1	1	hg19	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940697	0.92526	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.81	5.81	0.92471	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87969	0.2735	9	0.59425	D	0.04	-14.4858	20.0787	0.97763	0.0:0.0:1.0:0.0	.	340;334;334	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	M	334;334;340	.	ENSP00000367334:T334M	T	-	2	0	GBA2	35730847	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.800000	0.85949	2.757000	0.94681	0.462000	0.41574	ACG		TCGA-IB-7651-01A-11D-2154-08	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	1	69	268	0	73	1	9.993325e-01	7	38	0	73	2		0	0	0	0	0	2	1	1	67	258	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GBA2	57704	broad.mit.edu	37	9	35741771	35741771	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35741771G>A	ENST00000378103.3	-	4	1207	c.684C>T	c.(682-684)taC>taT	p.Y228Y	GBA2_ENST00000378094.4_Silent_p.Y228Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.Y234Y	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2			21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		AGAGGGCATGGTAGAAAGCAA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000378103.3	1	1	hg19	CCDS6589.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	1	105	472	0	107	1	9.997418e-01	3	53	0	107	2		0	0	0	0	0	2	1	1	103	455	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NPR2	4882	broad.mit.edu	37	9	35792966	35792966	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35792966C>A	ENST00000342694.2	+	1	816	c.561C>A	c.(559-561)gtC>gtA	p.V187V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2			45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCGAGGGCGTCTTTGAGGCCC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000342694.2	1	1	hg19	CCDS6590.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1	1	0	0	21	416	0	87	0	4.747740e-01	0	32	0	87	2		0	0	0	0	0	2	1	9.999972e-01	20	409	0	87	2								-4.987640	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.540000	0.350000	0.790000	0.530000	0.561557	0.540000	0	4.400000e-01	6.700000e-01
NPR2	4882	broad.mit.edu	37	9	35805906	35805906	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35805906C>A	ENST00000342694.2	+	14	2382	c.2127C>A	c.(2125-2127)agC>agA	p.S709R		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2			45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGTCTATAGCTTTGGGATCA	0.547000																								0							SO:0001583	missense			ENST00000342694.2	1	1	hg19	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.38|15.38	2.816902|2.816902	0.50633|0.50633	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000421267|ENST00000342694	.|T	.|0.78364	.|-1.17	5.82|5.82	2.0|2.0	0.26442|0.26442	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.52532	.|D	.|0.000072	D|D	0.92430|0.92430	0.7597|0.7597	H|H	0.99634|0.99634	4.67|4.67	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.91015|0.91015	0.4853|0.4853	5|10	.|0.72032	.|D	.|0.01	.|.	9.6933|9.6933	0.40143|0.40143	0.0:0.7216:0.0:0.2784|0.0:0.7216:0.0:0.2784	.|.	.|709;709	.|P20594-2;P20594	.|.;ANPRB_HUMAN	D|R	56|709	.|ENSP00000341083:S709R	.|ENSP00000341083:S709R	A|S	+|+	2|3	0|2	NPR2|NPR2	35795906|35795906	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	2.596000|2.596000	0.46205|0.46205	0.113000|0.113000	0.18004|0.18004	-0.251000|-0.251000	0.11542|0.11542	GCT|AGC		TCGA-IB-7651-01A-11D-2154-08	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1	1	0	1	71	355	0	89	0	9.679807e-01	1	29	0	89	2		0	0	0	0	0	2	1	1	70	351	0	87	2								-20.000000	1	1	121412	1	31	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM8B	51754	broad.mit.edu	37	9	35842555	35842555	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35842555G>A	ENST00000377991.4	+	7	1135	c.120G>A	c.(118-120)ccG>ccA	p.P40P	TMEM8B_ENST00000377996.1_Silent_p.P40P|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Silent_p.P40P|TMEM8B_ENST00000377988.2_Silent_p.P40P	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B			7					CAGTGCGCCCGACTCTGCGCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000377991.4	1	1	hg19	CCDS43800.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	1	0	1	42	211	0	56	1	9.915063e-01	10	30	0	56	2		0	0	0	0	0	2	1	1	42	201	0	55	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
OR13J1	392309	broad.mit.edu	37	9	35870113	35870113	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35870113C>T	ENST00000377981.2	-	1	348	c.286G>A	c.(286-288)Gtc>Atc	p.V96I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1			6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		ATGGCACAGACAGCAAAGGAG	0.607000																								0							SO:0001583	missense			ENST00000377981.2	1	1	hg19	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068871	0.36470	.	.	ENSG00000168828	ENST00000377981	T	0.03004	4.08	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.106709	0.41823	D	0.000803	T	0.03136	0.0092	N	0.20986	0.625	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.33574	-0.9863	10	0.87932	D	0	.	9.0204	0.36195	0.0:0.9037:0.0:0.0963	.	96	Q8NGT2	O13J1_HUMAN	I	96	ENSP00000367219:V96I	ENSP00000367219:V96I	V	-	1	0	OR13J1	35860113	0.002000	0.14202	0.211000	0.23655	0.814000	0.46013	1.811000	0.38942	2.890000	0.99128	0.650000	0.86243	GTC		TCGA-IB-7651-01A-11D-2154-08	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1	0	0	0	10	295	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	9.968541e-01	10	292	0	68	2								-3.724916	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.380000	0.190000	0.640000	0.360000	0.399081	0.380000	0	2.700000e-01	5.100000e-01
OR2S2	56656	broad.mit.edu	37	9	35957155	35957155	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35957155G>A	ENST00000341959.2	-	1	996	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2			17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		GAAGCCTTTTGGTCTCAGCAG	0.502000													Pancreas(172;293 2036 17878 24427 30946)											0							SO:0001583	missense			ENST00000341959.2	1	1	hg19	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354899	0.24512	.	.	ENSG00000122718	ENST00000341959	T	0.36520	1.25	3.94	-3.85	0.04243	.	1.656080	0.03819	N	0.267279	T	0.17023	0.0409	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20009	-1.0288	10	0.72032	D	0.01	.	2.3083	0.04180	0.1374:0.4289:0.1723:0.2615	.	314	Q9NQN1	OR2S1_HUMAN	L	314	ENSP00000344040:P314L	ENSP00000344040:P314L	P	-	2	0	OR2S2	35947155	0.022000	0.18835	0.000000	0.03702	0.005000	0.04900	-0.017000	0.12590	-0.723000	0.04915	-0.142000	0.14014	CCA		TCGA-IB-7651-01A-11D-2154-08	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	1	0	1	87	330	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	84	325	0	93	2								-3.220642	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RECK	8434	broad.mit.edu	37	9	36102199	36102199	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36102199G>T	ENST00000377966.3	+	12	1973	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs			32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		ATGATCTGAAGAATTGTATAC	0.343000																								0							SO:0001583	missense			ENST00000377966.3	1	1	hg19	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468555	0.26335	.	.	ENSG00000122707	ENST00000377966	T	0.44083	0.93	5.46	1.39	0.22231	.	0.168614	0.51477	D	0.000085	T	0.19485	0.0468	N	0.08118	0	0.27323	N	0.956981	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	10	0.29301	T	0.29	-12.8255	8.0352	0.30488	0.4452:0.0:0.5548:0.0	.	469;469	A8K9D8;O95980	.;RECK_HUMAN	N	469	ENSP00000367202:K469N	ENSP00000367202:K469N	K	+	3	2	RECK	36092199	0.997000	0.39634	0.687000	0.30102	0.994000	0.84299	0.863000	0.27913	0.058000	0.16222	0.655000	0.94253	AAG		TCGA-IB-7651-01A-11D-2154-08	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1	1	0	1	54	339	0	85	0	9.356535e-01	0	31	0	85	2		0	0	0	0	0	2	1	1	54	334	0	85	2								-19.999810	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999957	0.990000	1	9.900000e-01	1
RECK	8434	broad.mit.edu	37	9	36118895	36118895	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36118895G>A	ENST00000377966.3	+	18	2961	c.2395G>A	c.(2395-2397)Gtc>Atc	p.V799I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs			32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		GCACAGCTCCGTCGCCGAGTG	0.602000																								0							SO:0001583	missense			ENST00000377966.3	1	1	hg19	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	4.656	0.122028	0.08931	.	.	ENSG00000122707	ENST00000377966	T	0.43294	0.95	5.43	3.24	0.37175	.	0.428349	0.23164	N	0.051203	T	0.24198	0.0586	N	0.22421	0.69	0.09310	N	1	B;B	0.22414	0.069;0.069	B;B	0.12156	0.007;0.007	T	0.11275	-1.0594	10	0.21540	T	0.41	-5.8041	7.5195	0.27620	0.0:0.2918:0.4891:0.219	.	799;799	A8K9D8;O95980	.;RECK_HUMAN	I	799	ENSP00000367202:V799I	ENSP00000367202:V799I	V	+	1	0	RECK	36108895	0.665000	0.27466	0.017000	0.16124	0.059000	0.15707	1.935000	0.40173	1.388000	0.46506	0.655000	0.94253	GTC		TCGA-IB-7651-01A-11D-2154-08	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1	1	0	0	16	276	0	59	0	5.918063e-01	0	35	0	59	2		0	0	0	0	0	2	1	9.999306e-01	17	270	0	58	2								-18.270890	1	1	121410	4	39	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.620000	0.370000	0.940000	0.610000	0.642222	0.620000	0	4.800000e-01	7.900000e-01
GLIPR2	152007	broad.mit.edu	37	9	36148567	36148567	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36148567C>A	ENST00000377960.4	+	3	180	c.146C>A	c.(145-147)aCg>aAg	p.T49K	GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2			10					CTGGCCAGCACGAGGATCCTC	0.592000																								0							SO:0001583	missense			ENST00000377960.4	1	1	hg19	CCDS6598.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921361	0.52653	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.40476	1.03;2.56	5.61	5.61	0.85477	CAP domain (3);	0.196919	0.52532	D	0.000064	T	0.46034	0.1372	L	0.39898	1.24	0.80722	D	1	D;D;D;B	0.76494	0.999;0.999;0.989;0.035	P;P;P;B	0.58266	0.836;0.817;0.534;0.022	T	0.22034	-1.0228	10	0.05620	T	0.96	-10.0846	15.4923	0.75619	0.0:1.0:0.0:0.0	.	49;246;49;49	B4DQC5;D3DRP5;Q9H4G4;Q5VZR0	.;.;GAPR1_HUMAN;.	K	49	ENSP00000367195:T49K;ENSP00000367196:T49K	ENSP00000367195:T49K	T	+	2	0	GLIPR2	36138567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.260000	0.65490	2.793000	0.96121	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	1	0	1	17	167	0	35	1	9.999382e-01	3	165	0	35	2		0	0	0	0	0	2	1	9.999701e-01	18	164	0	35	2								-19.999710	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.640000	1.000000	1.000000	0.935138	0.990000	1	8.200000e-01	1
CCIN	881	broad.mit.edu	37	9	36169888	36169888	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169888G>A	ENST00000335119.2	+	1	500	c.389G>A	c.(388-390)cGt>cAt	p.R130H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin			21			STAD - Stomach adenocarcinoma(86;0.228)		TCCATCTGCCGTGCCAACTGC	0.507000																								0							SO:0001583	missense			ENST00000335119.2	1	1	hg19	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393719	0.25205	.	.	ENSG00000185972	ENST00000335119	T	0.65178	-0.14	5.54	4.63	0.57726	.	0.253147	0.25987	N	0.027031	T	0.53142	0.1778	N	0.25647	0.755	0.31130	N	0.707876	D	0.61080	0.989	P	0.48488	0.579	T	0.60449	-0.7261	10	0.62326	D	0.03	.	9.6298	0.39772	0.0937:0.0:0.9063:0.0	.	130	Q13939	CALI_HUMAN	H	130	ENSP00000334996:R130H	ENSP00000334996:R130H	R	+	2	0	CCIN	36159888	0.073000	0.21202	0.988000	0.46212	0.978000	0.69477	1.988000	0.40697	2.770000	0.95276	0.563000	0.77884	CGT		TCGA-IB-7651-01A-11D-2154-08	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	1	0	1	78	423	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1	77	412	0	87	2								-20.000000	1	0	121412	4	39	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNE	10020	broad.mit.edu	37	9	36218206	36218206	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36218206G>A	ENST00000539815.1	-	10	1947	c.1907C>T	c.(1906-1908)gCg>gTg	p.A636V	GNE_ENST00000447283.2_Missense_Mutation_p.A562V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V|GNE_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000396594.3_Missense_Mutation_p.A667V			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase			19			STAD - Stomach adenocarcinoma(86;0.228)		CTGGGCCTTCGCATTGCCAAG	0.582000													GBM(184;106 2118 20004 35750 50727)											0							SO:0001583	missense			ENST00000539815.1	1	1	hg19	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451269	0.26074	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99607	-4.8;-4.8;-4.8;-4.8;-6.27	5.58	1.28	0.21552	.	0.439248	0.28442	N	0.015329	D	0.97312	0.9121	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.001;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.006;0.001;0.001;0.0;0.0	D	0.94247	0.7490	10	0.27785	T	0.31	-8.3537	8.5766	0.33603	0.3503:0.0:0.6497:0.0	.	526;595;667;636;562	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	V	636;667;631;636;608;526;562	ENSP00000367134:A636V;ENSP00000379839:A667V;ENSP00000439155:A636V;ENSP00000445117:A526V;ENSP00000414760:A562V	ENSP00000340770:A631V	A	-	2	0	GNE	36208206	0.000000	0.05858	0.003000	0.11579	0.960000	0.62799	0.396000	0.20867	-0.048000	0.13401	0.561000	0.74099	GCG		TCGA-IB-7651-01A-11D-2154-08	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	1	0	1	192	742	0	183	1	1	50	73	0	183	2		0	0	0	0	0	2	1	1	190	731	0	180	2								-20.000000	1	1	121412	3	38	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNE	10020	broad.mit.edu	37	9	36229026	36229026	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36229026C>T	ENST00000539815.1	-	5	1102	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	GNE_ENST00000447283.2_Silent_p.Q354Q|GNE_ENST00000377902.5_Silent_p.Q354Q|GNE_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000396594.3_Silent_p.Q385Q			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase			19			STAD - Stomach adenocarcinoma(86;0.228)		ACCAAGGGTACTGTTTACCAA	0.403000													GBM(184;106 2118 20004 35750 50727)											0							SO:0001819	synonymous_variant			ENST00000539815.1	1	1	hg19	CCDS6602.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	1	0	1	99	448	1	106	1	9.988813e-01	27	42	1	106	4		0	0	0	0	0	2	1	1	99	439	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MELK	9833	broad.mit.edu	37	9	36589623	36589623	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36589623G>A	ENST00000298048.2	+	4	419	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	MELK_ENST00000541717.1_Missense_Mutation_p.A79T|MELK_ENST00000543751.1_Missense_Mutation_p.A47T|MELK_ENST00000536329.1_Intron|MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000536860.1_Missense_Mutation_p.A79T	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase			29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)		GCTAGAGACAGCCAACAAAAT	0.383000													Ovarian(82;980 1317 7225 14391 18624)											0							SO:0001583	missense			ENST00000298048.2	1	1	hg19	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634630	0.29068	.	.	ENSG00000165304	ENST00000298048;ENST00000545008;ENST00000536860;ENST00000541717;ENST00000543751	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.21	1.06	0.20224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.606548	0.18547	N	0.138023	T	0.10208	0.0250	N	0.10837	0.055	0.49582	D	0.999807	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.001;0.002	T	0.18493	-1.0335	10	0.45353	T	0.12	1.4915	0.5174	0.00605	0.2484:0.2733:0.2663:0.212	.	47;79;79;79;47;79	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A7;Q14680	.;.;.;.;.;MELK_HUMAN	T	79;79;79;79;47	ENSP00000298048:A79T;ENSP00000445452:A79T;ENSP00000439792:A79T;ENSP00000437804:A79T;ENSP00000441596:A47T	ENSP00000298048:A79T	A	+	1	0	MELK	36579623	0.482000	0.25948	0.999000	0.59377	0.994000	0.84299	0.017000	0.13399	0.213000	0.20722	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	1	0	0	21	417	0	91	1	2.460273e-01	2	17	0	91	2		0	0	0	0	0	2	1	9.999972e-01	19	411	0	91	2								-4.977428	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.540000	0.340000	0.790000	0.530000	0.560301	0.540000	0	4.300000e-01	6.700000e-01
MELK	9833	broad.mit.edu	37	9	36677318	36677318	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36677318C>A	ENST00000298048.2	+	18	2124	c.1940C>A	c.(1939-1941)tCt>tAt	p.S647Y	MELK_ENST00000541717.1_Missense_Mutation_p.S606Y|MELK_ENST00000543751.1_Missense_Mutation_p.S615Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000536860.1_Missense_Mutation_p.S599Y	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase			29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)		GACATCCTATCTAGCTGCAAG	0.458000													Ovarian(82;980 1317 7225 14391 18624)											0							SO:0001583	missense			ENST00000298048.2	0	1	hg19	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185524	0.78677	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.79	5.79	0.91817	Kinase-associated KA1 (4);	0.144593	0.64402	D	0.000004	T	0.67268	0.2875	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.99;0.987;1.0;0.996;0.992	T	0.67688	-0.5606	10	0.87932	D	0	-9.3178	20.0371	0.97565	0.0:1.0:0.0:0.0	.	567;576;599;606;576;615;647	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	Y	647;453;516;576;599;576;606;615	ENSP00000298048:S647Y;ENSP00000438226:S453Y;ENSP00000439184:S516Y;ENSP00000445452:S576Y;ENSP00000439792:S599Y;ENSP00000443550:S576Y;ENSP00000437804:S606Y;ENSP00000441596:S615Y	ENSP00000298048:S647Y	S	+	2	0	MELK	36667318	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.259000	0.78381	2.734000	0.93682	0.655000	0.94253	TCT		TCGA-IB-7651-01A-11D-2154-08	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	1	0	0	38	142	0	40	1	9.958915e-01	9	26	0	40	2		0	0	0	0	0	2	1	1	37	139	0	39	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PAX5	5079	broad.mit.edu	37	9	37002672	37002672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37002672C>T	ENST00000358127.4	-	5	651	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000414447.1_Intron|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.D85N	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	p.?(40)|p.D193>GGTRAN(1)	PAX5/JAK2(18)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)			TTGTTGGTGTCGGCGCTGGGG	0.682000			T, Mis, D, F, S	IGH@, ETV6, PML, FOXP1, ZNF521, ELN	NHL, ALL, B-ALL										Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	41	Unknown(40)|Complex - insertion inframe(1)						SO:0001583	missense			ENST00000358127.4	0	1	hg19	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352389	0.61293	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000377847;ENST00000524340	D;D;D;D;D;D;D;D;D;T	0.97731	-4.02;-4.01;-4.01;-4.51;-4.5;-3.68;-1.78;-2.34;-4.5;1.27	5.15	4.24	0.50183	.	0.522583	0.21064	N	0.080764	D	0.90494	0.7022	N	0.11313	0.125	0.49582	D	0.999801	P;P;B;B;B;P;B	0.44309	0.832;0.825;0.001;0.091;0.185;0.725;0.327	B;B;B;B;B;B;B	0.32393	0.145;0.091;0.002;0.009;0.011;0.051;0.034	D	0.90866	0.4742	10	0.02654	T	1	.	15.2869	0.73835	0.1415:0.8585:0.0:0.0	.	127;193;193;193;193;193;193	C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;PAX5_HUMAN	N	193;85;193;193;193;193;127;85;85;193;1	ENSP00000350844:D193N;ENSP00000367084:D193N;ENSP00000367083:D193N;ENSP00000429637:D193N;ENSP00000429291:D193N;ENSP00000404687:D127N;ENSP00000429359:D85N;ENSP00000429197:D85N;ENSP00000367078:D193N;ENSP00000429404:D1N	ENSP00000350844:D193N	D	-	1	0	PAX5	36992672	1.000000	0.71417	0.993000	0.49108	0.187000	0.23431	5.203000	0.65174	1.274000	0.44362	-0.324000	0.08512	GAC		TCGA-IB-7651-01A-11D-2154-08	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1	1	0	0	10	84	0	21	0	1.417526e-02	0	2	0	21	2		0	0	0	0	0	2	1	9.972542e-01	10	83	0	19	2								-16.537750	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.610000	1.000000	1.000000	0.946797	0.990000	1	8.500000e-01	1
PAX5	5079	broad.mit.edu	37	9	37015015	37015015	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37015015G>T	ENST00000358127.4	-	3	463	c.389C>A	c.(388-390)cCt>cAt	p.P130H	PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000522003.1_Missense_Mutation_p.P22H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	p.?(42)	PAX5/JAK2(18)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)			ACTGACGCTAGGCACGGTGTC	0.567000			T, Mis, D, F, S	IGH@, ETV6, PML, FOXP1, ZNF521, ELN	NHL, ALL, B-ALL										Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	42	Unknown(42)						SO:0001583	missense			ENST00000358127.4	1	1	hg19	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922520	0.92319	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	5.5	5.5	0.81552	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.056939	0.64402	D	0.000001	D	0.99857	0.9933	H	0.97291	3.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.985;0.998;0.999;0.997;0.998;0.998;0.998	D	0.96755	0.9557	10	0.87932	D	0	.	19.8015	0.96509	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130;130	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	H	130;22;130;130;130;130;130;22;22;130;130	ENSP00000350844:P130H;ENSP00000367084:P130H;ENSP00000367083:P130H;ENSP00000429637:P130H;ENSP00000429291:P130H;ENSP00000430773:P130H;ENSP00000429359:P22H;ENSP00000429197:P22H;ENSP00000412188:P130H;ENSP00000367078:P130H	ENSP00000350844:P130H	P	-	2	0	PAX5	37005015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.749000	0.94314	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1	0	0	0	27	1085	0	253	0	0	0	1	0	253	2		0	0	0	0	0	2	1	9.999999e-01	26	1071	0	247	2								-2.611004	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.270000	0.180000	0.390000	0.270000	0.284087	0.270000	0	2.200000e-01	3.300000e-01
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8			65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)			GGAAAAATTGCCACCCAACTA	0.448000																								0							SO:0001583	missense			ENST00000453981.1	1	1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	1	0	1	60	314	0	74	0	9.971423e-01	0	49	0	74	2		0	0	0	0	0	2	1	1	60	310	0	73	2								-2.571543	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZBTB5	9925	broad.mit.edu	37	9	37441319	37441319	+	Silent	SNP	C	C	T	rs138751675	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37441319C>T	ENST00000307750.4	-	2	1418	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5			8					TAAGAAAATTCGAAATACTAA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000307750.4	1	1	hg19	CCDS6610.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	1	0	1	66	272	0	86	1	9.979182e-01	14	27	0	86	2		0	0	0	0	0	2	1	1	66	267	0	86	2								-3.168264	1	1	121410	71	50	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXO10	26267	broad.mit.edu	37	9	37537896	37537896	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37537896G>A	ENST00000432825.2	-	3	678	c.630C>T	c.(628-630)aaC>aaT	p.N210N	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10			34					GGATGTGCCCGTTCTCAAAGT	0.498000																								0							SO:0001819	synonymous_variant			ENST00000432825.2	0	1	hg19	CCDS47966.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3	0	0	0	10	477	0	106	0	7.022603e-02	0	19	0	106	2		0	0	0	0	0	2	1	9.966016e-01	10	467	0	106	2								-2.584992	1	1	120878	5	38	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.230000	0.120000	0.400000	0.230000	0.252455	0.230000	0	1.700000e-01	3.200000e-01
DOCK8	81704	broad.mit.edu	37	9	376229	376229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:376229C>A	ENST00000453981.1	+	19	2241	c.2129C>A	c.(2128-2130)cCt>cAt	p.P710H	DOCK8_ENST00000432829.2_Missense_Mutation_p.P642H|DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H|DOCK8_ENST00000469391.1_Missense_Mutation_p.P642H			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8			65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)			TTACAGAATCCTCCCATTAAG	0.373000																								0							SO:0001583	missense			ENST00000453981.1	1	1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329458	0.81690	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.44881	2.23;2.23;2.25;0.91;2.04	5.66	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.99;1.0	D;D;D;D	0.91635	0.961;0.999;0.972;0.998	T	0.75657	-0.3242	10	0.87932	D	0	.	14.5025	0.67732	0.0:0.9297:0.0:0.0703	.	12;642;177;710	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	H	710;710;642;642;12;177	ENSP00000408464:P710H;ENSP00000394888:P642H;ENSP00000419438:P642H;ENSP00000371768:P12H;ENSP00000371766:P177H	ENSP00000287364:P710H	P	+	2	0	DOCK8	366229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.621000	0.67743	1.388000	0.46506	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	1	0	1	104	442	0	104	1	9.997726e-01	2	52	0	104	2		0	0	0	0	0	2	1	1	101	439	0	103	2								-3.299441	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMPD1	22844	broad.mit.edu	37	9	37707441	37707441	+	Missense_Mutation	SNP	G	G	A	rs2296556	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37707441G>A	ENST00000539465.1	+	3	723	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A44T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1			93					TGATGGGCCCGCCAGGAACCC	0.498000																								0							SO:0001583	missense			ENST00000539465.1	1	0	hg19	CCDS6612.1	264	0.12087912087912088	27	0.054878048780487805	12	0.03314917127071823	221	0.38636363636363635	4	0.005277044854881266	G	4.293	0.053558	0.08291	0.038584	0.007209	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000359927	T;T;T	0.38560	1.13;1.13;1.83	5.66	-3.77	0.04346	PDZ/DHR/GLGF (1);	0.757438	0.12731	N	0.443880	T	0.00012	0.0000	N	0.11427	0.14	0.54753	P	1.0999999999983245E-5	B	0.12013	0.005	B	0.06405	0.002	T	0.44159	-0.9346	9	0.41790	T	0.15	-2.5959	3.8898	0.09114	0.1038:0.285:0.4164:0.1948	rs2296556;rs52825748;rs2296556	44	Q5SYB0	FRPD1_HUMAN	T	44	ENSP00000366995:A44T;ENSP00000444411:A44T;ENSP00000439868:A44T	ENSP00000439868:A44T	A	+	1	0	FRMPD1	37697441	0.000000	0.05858	0.006000	0.13384	0.922000	0.55478	-0.656000	0.05342	-0.631000	0.05560	-0.798000	0.03219	GCC		TCGA-IB-7651-01A-11D-2154-08	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	0	0	1	83	338	0	77	1	3.411710e-01	2	4	0	77	2		0	0	0	0	0	2	1	1	82	330	0	76	2								-1.587338	0	1	121412	6834	70	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMPD1	22844	broad.mit.edu	37	9	37735568	37735568	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37735568A>G	ENST00000539465.1	+	13	1831	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1			93					AGAGAATCCTACATTGCCCTT	0.438000																								0							SO:0001583	missense			ENST00000539465.1	1	1	hg19	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818001	0.32145	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.74	4.61	0.57282	FERM domain (1);	0.173638	0.52532	D	0.000066	T	0.09423	0.0232	L	0.36672	1.1	0.46849	D	0.99922	B;B	0.14012	0.001;0.009	B;B	0.09377	0.002;0.004	T	0.11842	-1.0571	10	0.38643	T	0.18	-9.5643	9.9939	0.41887	0.92:0.0:0.08:0.0	.	282;413	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	C	413;413;235;282	ENSP00000366995:Y413C;ENSP00000444411:Y413C;ENSP00000437762:Y235C;ENSP00000444804:Y282C	ENSP00000366995:Y413C	Y	+	2	0	FRMPD1	37725568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.063000	0.41423	1.011000	0.39340	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1	76	373	0	101	1	6.296057e-01	7	5	0	101	2		0	0	0	0	0	2	1	1	76	365	0	99	2								-3.245814	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMPD1	22844	broad.mit.edu	37	9	37744622	37744622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744622G>A	ENST00000539465.1	+	16	3186	c.2593G>A	c.(2593-2595)Gac>Aac	p.D865N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1			93					GAGTGTAGACGACGTGTGCTA	0.577000																								0							SO:0001583	missense			ENST00000539465.1	1	1	hg19	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146103	0.21288	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07908	3.15;3.15	5.26	1.02	0.19986	.	0.517604	0.20831	N	0.084881	T	0.07188	0.0182	L	0.44542	1.39	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.37174	-0.9717	10	0.22109	T	0.4	-3.6729	10.0835	0.42404	0.0903:0.5934:0.3162:0.0	.	865	Q5SYB0	FRPD1_HUMAN	N	865	ENSP00000366995:D865N;ENSP00000444411:D865N	ENSP00000366995:D865N	D	+	1	0	FRMPD1	37734622	0.020000	0.18652	0.007000	0.13788	0.649000	0.38597	2.070000	0.41491	0.202000	0.20498	0.561000	0.74099	GAC		TCGA-IB-7651-01A-11D-2154-08	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1	48	209	0	56	1	9.638527e-01	10	16	0	56	2		0	0	0	0	0	2	1	1	46	203	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
FRMPD1	22844	broad.mit.edu	37	9	37744962	37744962	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744962G>A	ENST00000539465.1	+	16	3526	c.2933G>A	c.(2932-2934)gGc>gAc	p.G978D	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1			93					GGTTCATCTGGCCCAGATACT	0.522000																								0							SO:0001583	missense			ENST00000539465.1	1	1	hg19	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806782	0.50421	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06449	3.3;3.3	5.17	-0.546	0.11840	.	0.984665	0.08339	N	0.961171	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.41135	0.348	T	0.45789	-0.9237	10	0.30078	T	0.28	-4.4383	8.542	0.33399	0.4994:0.0:0.5006:0.0	.	978	Q5SYB0	FRPD1_HUMAN	D	978	ENSP00000366995:G978D;ENSP00000444411:G978D	ENSP00000366995:G978D	G	+	2	0	FRMPD1	37734962	0.000000	0.05858	0.007000	0.13788	0.501000	0.33797	-0.111000	0.10807	-0.025000	0.13918	0.462000	0.41574	GGC		TCGA-IB-7651-01A-11D-2154-08	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1	131	538	0	130	1	9.544986e-01	10	13	0	130	2		0	0	0	0	0	2	1	1	129	529	0	130	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMPD1	22844	broad.mit.edu	37	9	37745576	37745576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37745576G>T	ENST00000539465.1	+	16	4140	c.3547G>T	c.(3547-3549)Gga>Tga	p.G1183*	FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1			93					AGACCCTCAAGGACAGAGCAG	0.493000																								0							SO:0001587	stop_gained			ENST00000539465.1	0	1	hg19	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	43	10.015053	0.99318	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	5.33	4.44	0.53790	.	1.221790	0.05564	N	0.569825	.	.	.	.	.	.	0.24819	N	0.992599	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.0487	9.9312	0.41523	0.0939:0.0:0.9061:0.0	.	.	.	.	X	1183	.	ENSP00000366995:G1183X	G	+	1	0	FRMPD1	37735576	0.001000	0.12720	0.007000	0.13788	0.137000	0.21094	0.888000	0.28268	1.257000	0.44085	0.561000	0.74099	GGA		TCGA-IB-7651-01A-11D-2154-08	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1	59	329	0	97	1	9.828498e-01	13	25	0	97	2		0	0	0	0	0	2	1	1	53	324	0	97	2								-2.970356	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
EXOSC3	51010	broad.mit.edu	37	9	37782101	37782101	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37782101C>T	ENST00000327304.5	-	3	520	c.508G>A	c.(508-510)Gct>Act	p.A170T	EXOSC3_ENST00000490516.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Intron	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3			4					TCTTTATTAGCAACCACAAAC	0.423000																								0							SO:0001583	missense			ENST00000327304.5	1	1	hg19	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	C	35	5.536122	0.96460	.	.	ENSG00000107371	ENST00000327304	T	0.17854	2.25	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02758	-1.1114	10	0.33940	T	0.23	-1.419	17.2324	0.86988	0.0:1.0:0.0:0.0	.	170	Q9NQT5	EXOS3_HUMAN	T	170	ENSP00000323046:A170T	ENSP00000323046:A170T	A	-	1	0	EXOSC3	37772101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.801000	0.85960	2.733000	0.93635	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	1	0	1	38	316	0	84	1	9.978736e-01	19	61	0	84	2		0	0	0	0	0	2	1	1	37	312	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.870000	1.000000	1.000000	0.991748	0.990000	1	9.900000e-01	1
SHB	6461	broad.mit.edu	37	9	37974723	37974723	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37974723C>T	ENST00000377707.3	-	3	1515	c.950G>A	c.(949-951)aGc>aAc	p.S317N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B			11		all_epithelial(88;0.122)			CAGTCGGGGGCTGACTGTGCT	0.592000																								0							SO:0001583	missense			ENST00000377707.3	1	1	hg19	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272650	0.59649	.	.	ENSG00000107338	ENST00000377707	T	0.44083	0.93	5.55	5.55	0.83447	.	0.616511	0.16287	N	0.221097	T	0.29524	0.0736	N	0.19112	0.55	0.80722	D	1	B	0.33073	0.396	B	0.26770	0.073	T	0.08513	-1.0718	10	0.30854	T	0.27	-23.0729	17.0051	0.86391	0.0:1.0:0.0:0.0	.	317	Q15464	SHB_HUMAN	N	317	ENSP00000366936:S317N	ENSP00000366936:S317N	S	-	2	0	SHB	37964723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.021000	0.57196	2.620000	0.88729	0.563000	0.77884	AGC		TCGA-IB-7651-01A-11D-2154-08	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1	0	0	1	74	398	0	85	1	1	175	226	0	85	2		0	0	0	0	0	2	1	1	73	390	0	85	2								-20.000000	1	1	121038	1	30	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK8	81704	broad.mit.edu	37	9	382633	382633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:382633C>T	ENST00000453981.1	+	22	2838	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	DOCK8_ENST00000432829.2_Missense_Mutation_p.A841V|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376V|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8			65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)			CCAGACCTCGCGGGGACACAC	0.542000																								0							SO:0001583	missense			ENST00000453981.1	0	1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849439	0.32699	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.64	2.51	0.30379	.	0.517985	0.20394	N	0.093194	T	0.24314	0.0589	L	0.47190	1.495	0.09310	N	1	B;B;B;B	0.16603	0.018;0.0;0.001;0.0	B;B;B;B	0.11329	0.006;0.001;0.002;0.001	T	0.22173	-1.0224	10	0.20519	T	0.43	.	10.0352	0.42125	0.0:0.7579:0.0:0.2421	.	211;841;376;909	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	V	909;909;841;841;211;376	ENSP00000408464:A909V;ENSP00000394888:A841V;ENSP00000419438:A841V;ENSP00000371768:A211V;ENSP00000371766:A376V	ENSP00000287364:A909V	A	+	2	0	DOCK8	372633	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	1.427000	0.34881	0.208000	0.20626	-0.126000	0.14955	GCG		TCGA-IB-7651-01A-11D-2154-08	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	0	0	0	7	388	0	81	0	2.739369e-01	0	51	0	81	2		0	0	0	0	0	2	1	9.797391e-01	7	382	0	81	2								-6.824755	1	0	121412	1	32	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.210000	0.090000	0.390000	0.200000	0.225486	0.210000	0	1.400000e-01	3.000000e-01
GLIS3	169792	broad.mit.edu	37	9	3829351	3829351	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:3829351T>C	ENST00000324333.10	-	9	2343	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3			26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)			GTGGAAAACATCAAAACTGGC	0.537000																								0							SO:0001583	missense			ENST00000324333.10	1	1	hg19	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	t	12.24	1.878591	0.33162	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11821	2.77;2.74	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000082	T	0.08537	0.0212	N	0.19112	0.55	0.37435	D	0.914172	B;B;B	0.32693	0.38;0.38;0.051	B;B;B	0.30316	0.114;0.114;0.034	T	0.38693	-0.9649	10	0.15952	T	0.53	.	11.4116	0.49929	0.0:0.0717:0.0:0.9283	.	312;872;717	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	G	717;872	ENSP00000325494:D717G;ENSP00000371398:D872G	ENSP00000325494:D717G	D	-	2	0	GLIS3	3819351	1.000000	0.71417	0.994000	0.49952	0.790000	0.44656	4.122000	0.57910	2.270000	0.75569	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	1	0	1	41	185	0	50	1	9.433278e-01	3	21	0	50	2		0	0	0	0	0	2	1	1	42	183	0	50	2								-20.000000	1	1	121410	1	32	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
ALDH1B1	219	broad.mit.edu	37	9	38396312	38396312	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:38396312G>A	ENST00000377698.3	+	2	720	c.567G>A	c.(565-567)ttG>ttA	p.L189L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1			32					ACTTCCCCTTGGTCATGCAGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000377698.3	1	1	hg19	CCDS6615.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1	1	0	1	97	461	0	104	1	9.999919e-01	18	63	0	104	2		0	0	0	0	0	2	1	1	97	457	0	103	2								-2.995058	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTNAP3	79937	broad.mit.edu	37	9	39109231	39109231	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39109231A>C	ENST00000297668.6	-	15	2364	c.2291T>G	c.(2290-2292)aTt>aGt	p.I764S	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3			24					TGTCATCACAATCTGAGTGAC	0.453000																								0							SO:0001583	missense			ENST00000297668.6	1	1	hg19	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181223	0.38511	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.16196	2.36;2.36;2.36	2.99	1.78	0.24846	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.34337	0.0894	M	0.80422	2.495	0.44603	D	0.997579	D;D;P	0.62365	0.973;0.991;0.956	P;D;P	0.66497	0.733;0.944;0.757	T	0.10567	-1.0624	9	0.23891	T	0.37	.	7.4277	0.27109	0.8056:0.0:0.0:0.1944	.	764;763;764	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	S	764;763;676	ENSP00000297668:I764S;ENSP00000366884:I763S;ENSP00000350863:I676S	ENSP00000297668:I764S	I	-	2	0	CNTNAP3	39099231	0.705000	0.27846	0.002000	0.10522	0.397000	0.30659	6.375000	0.73137	0.338000	0.23692	0.254000	0.18369	ATT		TCGA-IB-7651-01A-11D-2154-08	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	1	33	154	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	27	143	0	31	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999966	0.990000	1	9.900000e-01	1
CNTNAP3	79937	broad.mit.edu	37	9	39133078	39133078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133078C>T	ENST00000297668.6	-	13	2004	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3			24					GGGGGCACCTCGGAGGGTCAC	0.731000																								0							SO:0001583	missense			ENST00000297668.6	0	1	hg19	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729312	0.15507	3.34E-4	0.0	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	2.37	-1.18	0.09617	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.04452	0.0122	L	0.28274	0.84	0.09310	N	1	P;B;B;B;B	0.43352	0.804;0.055;0.108;0.259;0.011	B;B;B;B;B	0.25140	0.058;0.011;0.007;0.049;0.003	T	0.40308	-0.9570	9	0.29301	T	0.29	.	5.4154	0.16370	0.0:0.3863:0.0:0.6137	.	550;644;644;643;644	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	Q	644;643;556;550;643	ENSP00000297668:R644Q;ENSP00000366884:R643Q;ENSP00000350863:R556Q;ENSP00000320728:R550Q;ENSP00000366887:R643Q	ENSP00000297668:R644Q	R	-	2	0	CNTNAP3	39123078	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.094000	0.11094	-0.270000	0.09285	0.454000	0.30748	CGA		TCGA-IB-7651-01A-11D-2154-08	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	0	5	39	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	9.414011e-01	5	39	0	9	2								-11.144050	1	0	113250	1	25	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.470000	1.000000	1.000000	0.914366	0.990000	1	7.600000e-01	1
CNTNAP3	79937	broad.mit.edu	37	9	39133095	39133095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133095G>A	ENST00000297668.6	-	13	1987	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	CNTNAP3_ENST00000323947.7_Silent_p.P544P|CNTNAP3_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000358144.2_Silent_p.P550P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3			24					TCACCGCGTCGGGGCCACCGT	0.711000																								0							SO:0001819	synonymous_variant			ENST00000297668.6	0	1	hg19	CCDS6616.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	0	16	30	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	9.999821e-01	16	30	0	10	2								-20.000000	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999880	0.990000	1	9.900000e-01	1
CNTNAP3	79937	broad.mit.edu	37	9	39140635	39140635	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39140635G>T	ENST00000297668.6	-	12	1830	c.1757C>A	c.(1756-1758)tCt>tAt	p.S586Y	CNTNAP3_ENST00000323947.7_Splice_Site_p.A493D|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586Y|CNTNAP3_ENST00000377656.2_Splice_Site_p.S586Y|CNTNAP3_ENST00000358144.2_Splice_Site_p.S498Y	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3			24					CTCGTAGAGAGCTGTAGGAGA	0.463000																								0							SO:0001630	splice_region_variant			ENST00000297668.6	1	0	hg19	CCDS6616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.48|18.48	3.633518|3.633518	0.67015|0.67015	.|.	.|.	ENSG00000106714|ENSG00000106714	ENST00000323947|ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T|T;T;T;T	0.79033|0.17054	-1.23|2.3;2.3;2.3;2.3	2.85|2.85	2.85|2.85	0.33270|0.33270	.|Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	.|.	.|.	.|.	.|.	T|T	0.45617|0.45617	0.1351|0.1351	M|M	0.90198|0.90198	3.095|3.095	0.30073|0.30073	N|N	0.809856|0.809856	D|D;D;P	0.61697|0.71674	0.99|0.989;0.998;0.604	P|P;D;B	0.60886|0.64144	0.88|0.856;0.922;0.317	T|T	0.52653|0.52653	-0.8547|-0.8547	9|9	0.66056|0.87932	D|D	0.02|0	.|.	12.7303|12.7303	0.57195|0.57195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	493|586;586;586	E2QRH2|Q9BZ76-2;A6NC89;Q9BZ76	.|.;.;CNTP3_HUMAN	D|Y	493|586;586;498;586	ENSP00000320728:A493D|ENSP00000297668:S586Y;ENSP00000366884:S586Y;ENSP00000350863:S498Y;ENSP00000366887:S586Y	ENSP00000320728:A493D|ENSP00000297668:S586Y	A|S	-|-	2|2	0|0	CNTNAP3|CNTNAP3	39130635|39130635	1.000000|1.000000	0.71417|0.71417	0.400000|0.400000	0.26346|0.26346	0.052000|0.052000	0.14988|0.14988	8.314000|8.314000	0.89980|0.89980	1.593000|1.593000	0.50029|0.50029	0.440000|0.440000	0.28878|0.28878	GCT|TCT		TCGA-IB-7651-01A-11D-2154-08	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	0	55	192	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	51	172	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNTNAP3	79937	broad.mit.edu	37	9	39149958	39149958	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39149958G>A	ENST00000297668.6	-	10	1567	c.1494C>T	c.(1492-1494)agC>agT	p.S498S	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000358144.2_Silent_p.S410S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3			24					CAGAGCCAGAGCTGTTGTCCA	0.463000																								0							SO:0001819	synonymous_variant			ENST00000297668.6	1	1	hg19	CCDS6616.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	1	0	1	27	156	0	59	0	0	1	0	0	59	2		0	0	0	0	0	2	1	9.999993e-01	17	123	0	64	2								-20.000000	1	1	121396	5	34	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999318	0.990000	1	9.900000e-01	1
GLIS3	169792	broad.mit.edu	37	9	4118509	4118509	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4118509C>T	ENST00000324333.10	-	3	697	c.504G>A	c.(502-504)tcG>tcA	p.S168S	GLIS3_ENST00000381971.3_Silent_p.S323S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3			26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)			AGGACGTGGGCGACGTGCGGA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000324333.10	1	1	hg19	CCDS6451.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	1	0	0	30	401	0	87	0	2.653443e-01	1	13	0	87	2		0	0	0	0	0	2	1	1	29	400	0	85	2								-3.142702	1	1	121412	2	37	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.780000	0.540000	1.000000	1.000000	0.795957	0.780000	0	6.500000e-01	9.300000e-01
DOCK8	81704	broad.mit.edu	37	9	421012	421012	+	Missense_Mutation	SNP	C	C	T	rs142093178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:421012C>T	ENST00000453981.1	+	32	4199	c.4087C>T	c.(4087-4089)Cgg>Tgg	p.R1363W	DOCK8_ENST00000432829.2_Missense_Mutation_p.R1295W|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1263W			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8			65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)			TGTCAAGGCCCGGCTGGAAGA	0.582000																								0							SO:0001583	missense			ENST00000453981.1	1	1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055129	0.55325	0.0	1.16E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	5.76	-2.97	0.05530	.	0.210418	0.47852	D	0.000205	T	0.05090	0.0136	M	0.74881	2.28	0.34970	D	0.753095	B;B;B	0.16396	0.007;0.017;0.017	B;B;B	0.15870	0.008;0.014;0.008	T	0.40664	-0.9551	10	0.87932	D	0	.	22.6959	0.99975	0.2404:0.7596:0.0:0.0	.	1263;830;1363	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	W	1363;1331;1295;1263;830	ENSP00000408464:R1363W;ENSP00000394888:R1295W;ENSP00000419438:R1263W;ENSP00000371766:R830W	ENSP00000287364:R1331W	R	+	1	2	DOCK8	411012	0.989000	0.36119	0.926000	0.36857	0.860000	0.49131	0.889000	0.28282	-0.423000	0.07394	-0.262000	0.10625	CGG		TCGA-IB-7651-01A-11D-2154-08	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	1	0	1	63	432	0	111	0	9.902267e-01	0	51	0	111	2		0	0	0	0	0	2	1	1	62	421	0	110	2								-2.402345	0	1	121412	21	46	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999914	0.990000	1	9.900000e-01	1
GLIS3	169792	broad.mit.edu	37	9	4286138	4286138	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4286138C>T	ENST00000381971.3	-	2	881	c.288G>A	c.(286-288)ccG>ccA	p.P96P		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3			26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)			CCTGGAATCGCGGCTTCCCAT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000381971.3	1	1	hg19	CCDS43784.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	1	0	1	80	471	0	95	0	9.263517e-01	1	27	0	95	2		0	0	0	0	0	2	1	1	79	465	0	95	2								-20.000000	1	1	120944	1	34	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC1A1	6505	broad.mit.edu	37	9	4576049	4576049	+	Silent	SNP	C	C	T	rs137855083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576049C>T	ENST00000262352.3	+	9	1160	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1			15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	ATTTCATAGTCGTACGAAAGA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000262352.3	1	1	hg19	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540993	0.13250	0.0	2.33E-4	ENSG00000106688	ENST00000422398	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	.	5.2653	0.15595	0.1122:0.1072:0.1954:0.5853	.	.	.	.	C	71	.	.	R	+	1	0	SLC1A1	4566049	0.000000	0.05858	0.010000	0.14722	0.866000	0.49608	-5.152000	0.00146	-2.973000	0.00285	-0.768000	0.03414	CGT		TCGA-IB-7651-01A-11D-2154-08	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1	1	0	1	61	283	0	53	1	1	165	130	0	53	2		0	0	0	0	0	2	1	1	58	279	0	52	2								-3.216487	1	1	121412	3	37	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC1A1	6505	broad.mit.edu	37	9	4576732	4576732	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576732G>T	ENST00000262352.3	+	10	1398	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1			15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GAATGACCTGGACTTGGGCAT	0.488000																								0							SO:0001583	missense			ENST00000262352.3	1	1	hg19	CCDS6452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614725|1.614725	0.28712|0.28712	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	T|.	0.60920|.	0.15|.	5.54|5.54	4.64|4.64	0.57946|0.57946	.|.	0.495607|.	0.23930|.	N|.	0.043142|.	T|T	0.72003|0.72003	0.3407|0.3407	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	B|.	0.26195|.	0.144|.	B|.	0.30646|.	0.118|.	T|T	0.72561|0.72561	-0.4256|-0.4256	10|5	0.56958|.	D|.	0.05|.	.|.	10.1483|10.1483	0.42778|0.42778	0.1511:0.0:0.8489:0.0|0.1511:0.0:0.8489:0.0	.|.	388|.	P43005|.	EAA3_HUMAN|.	Y|V	388|150	ENSP00000262352:D388Y|.	ENSP00000262352:D388Y|.	D|G	+|+	1|2	0|0	SLC1A1|SLC1A1	4566732|4566732	0.000000|0.000000	0.05858|0.05858	0.403000|0.403000	0.26384|0.26384	0.462000|0.462000	0.32619|0.32619	0.682000|0.682000	0.25335|0.25335	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	GAC|GGA		TCGA-IB-7651-01A-11D-2154-08	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1	1	0	1	107	497	0	133	1	1	153	189	0	133	2		0	0	0	0	0	2	1	1	107	489	0	133	2								-20.000000	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC1A1	6505	broad.mit.edu	37	9	4576765	4576765	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576765T>C	ENST00000262352.3	+	10	1429		c.e10+2			NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1			15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CACCATCAGGTGGGGCATGGT	0.483000																								0							SO:0001630	splice_region_variant			ENST00000262352.3	1	1	hg19	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349111	0.82132	.	.	ENSG00000106688	ENST00000262352;ENST00000422398	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6606	0.77186	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC1A1	4566765	1.000000	0.71417	0.980000	0.43619	0.922000	0.55478	7.962000	0.87912	2.097000	0.63578	0.533000	0.62120	.		TCGA-IB-7651-01A-11D-2154-08	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1	1	0	1	71	380	0	106	1	9.999991e-01	107	2	0	106	2		0	0	0	0	0	2	1	1	70	377	0	105	2								-20.000000	1	0	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC1A1	6505	broad.mit.edu	37	9	4583161	4583161	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4583161C>T	ENST00000262352.3	+	11	1553	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1			15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	TCATTGCTGTCGACTGGCTCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000262352.3	1	1	hg19	CCDS6452.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1	0	0	1	98	534	0	143	1	1	115	39	0	143	2		0	0	0	0	0	2	1	1	98	525	0	141	2								-3.143599	1	1	121412	6	40	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDC37L1	55664	broad.mit.edu	37	9	4684890	4684890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4684890G>A	ENST00000381854.3	+	2	348	c.146G>A	c.(145-147)gGa>gAa	p.G49E	CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E|CDC37L1_ENST00000479095.1_3'UTR	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1			4	all_hematologic(13;0.137)	Breast(48;0.238)			TATAGCCATGGAATTGAATTG	0.373000																								0							SO:0001583	missense			ENST00000381854.3	1	1	hg19	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574054	0.28092	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.41065	1.01;1.02	5.86	3.05	0.35203	.	0.544665	0.20087	N	0.099523	T	0.22704	0.0548	N	0.14661	0.345	0.34232	D	0.676602	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	10	0.12103	T	0.63	-2.6289	10.5014	0.44808	0.2599:0.0:0.7401:0.0	.	49	Q7L3B6	CD37L_HUMAN	E	49	ENSP00000371282:G49E;ENSP00000371278:G49E	ENSP00000371278:G49E	G	+	2	0	CDC37L1	4674890	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.529000	0.45632	0.825000	0.34637	0.563000	0.77884	GGA		TCGA-IB-7651-01A-11D-2154-08	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	1	0	1	37	179	0	33	1	9.998464e-01	10	58	0	33	2		0	0	0	0	0	2	1	1	37	174	0	33	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
AK3	50808	broad.mit.edu	37	9	4719298	4719298	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4719298C>A	ENST00000381809.3	-	3	511	c.281G>T	c.(280-282)aGg>aTg	p.R94M	AK3_ENST00000359883.2_Missense_Mutation_p.R24M|AK3_ENST00000447596.4_Missense_Mutation_p.R54M	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3			5	all_hematologic(13;0.137)	Breast(48;0.238)		Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	TGGAAGTGTCCTTGGAAAACC	0.418000																								0							SO:0001583	missense			ENST00000381809.3	1	1	hg19	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351724	0.82132	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	D;D;D	0.87103	-2.21;-2.21;-2.21	5.66	4.75	0.60458	.	0.043780	0.85682	D	0.000000	D	0.96648	0.8906	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98528	1.0626	10	0.87932	D	0	-19.0572	15.9198	0.79552	0.1364:0.8636:0.0:0.0	.	54;94	E7ET30;Q9UIJ7	.;KAD3_HUMAN	M	94;24;24;54	ENSP00000371230:R94M;ENSP00000352948:R24M;ENSP00000413933:R54M	ENSP00000352948:R24M	R	-	2	0	AK3	4709298	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.407000	0.80029	1.377000	0.46286	0.655000	0.94253	AGG		TCGA-IB-7651-01A-11D-2154-08	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	1	0	0	22	205	0	52	1	9.999996e-01	53	192	0	52	2		0	0	0	0	0	2	1	9.999988e-01	22	200	0	50	2								-3.142710	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.710000	1.000000	1.000000	0.959295	0.990000	1	8.800000e-01	1
JAK2	3717	broad.mit.edu	37	9	5069022	5069022	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5069022C>T	ENST00000381652.3	+	11	1821	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	JAK2_ENST00000544510.1_Splice_Site_p.R294*|JAK2_ENST00000539801.1_Splice_Site_p.R443*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACTTATACAGCGAGAAAATGT	0.328000		1	T, Mis, O	ETV6, PCM1, BCR	ALL, AML, MPD,  CML				Polycythemia Vera, Familial						Dom	yes		9	9p24	3717	Janus kinase 2		L	0							SO:0001630	splice_region_variant	Familial Cancer Database		ENST00000381652.3	0	0	hg19	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	40	8.190073	0.98699	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.02	2.04	0.26737	.	0.488046	0.20689	N	0.087500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4355	14.0004	0.64431	0.3937:0.6063:0.0:0.0	.	.	.	.	X	443;443;294	.	.	R	+	1	2	JAK2	5059022	0.998000	0.40836	0.984000	0.44739	0.963000	0.63663	0.477000	0.22196	0.111000	0.17947	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	1	0	1	28	213	0	51	0	9.532981e-01	0	41	0	51	2		0	0	0	0	0	2	1	1	28	211	0	50	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.890000	1.000000	1.000000	0.993489	0.990000	1	9.900000e-01	1
JAK2	3717	broad.mit.edu	37	9	5073726	5073726	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5073726G>T	ENST00000381652.3	+	14	2299	c.1805G>T	c.(1804-1806)aGc>aTc	p.S602I	JAK2_ENST00000544510.1_Missense_Mutation_p.S453I|JAK2_ENST00000539801.1_Missense_Mutation_p.S602I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGTATGATGAGCAAGCTTTCT	0.353000		1	T, Mis, O	ETV6, PCM1, BCR	ALL, AML, MPD,  CML				Polycythemia Vera, Familial						Dom	yes		9	9p24	3717	Janus kinase 2		L	0							SO:0001583	missense	Familial Cancer Database		ENST00000381652.3	1	1	hg19	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350840	0.82132	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83419	-1.72;-1.72;-1.72	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.038094	0.85682	D	0.000000	D	0.92453	0.7604	M	0.89163	3.01	0.80722	D	1	D	0.63880	0.993	D	0.65773	0.938	D	0.93483	0.6829	10	0.87932	D	0	-13.7575	19.4075	0.94653	0.0:0.0:1.0:0.0	.	602	O60674	JAK2_HUMAN	I	602;602;453	ENSP00000440387:S602I;ENSP00000371067:S602I;ENSP00000443103:S453I	ENSP00000371067:S602I	S	+	2	0	JAK2	5063726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.442000	0.80503	2.583000	0.87209	0.591000	0.81541	AGC		TCGA-IB-7651-01A-11D-2154-08	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	1	0	1	94	645	0	110	1	9.896362e-01	14	35	0	110	2		0	0	0	0	0	2	1	1	93	634	0	109	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
INSL6	11172	broad.mit.edu	37	9	5164187	5164187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5164187G>A	ENST00000381641.3	-	2	433	c.368C>T	c.(367-369)tCa>tTa	p.S123L	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6			15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)			ACCAAGGGGTGAATATCCCTT	0.328000																								0							SO:0001583	missense			ENST00000381641.3	1	1	hg19	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547171	0.13312	.	.	ENSG00000120210	ENST00000381641	T	0.48522	0.81	4.2	-0.793	0.10922	Insulin-like (3);	2.496800	0.01306	N	0.010478	T	0.23094	0.0558	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	10	0.13470	T	0.59	0.3335	7.5577	0.27833	0.7562:0.0:0.2438:0.0	.	123	Q9Y581	INSL6_HUMAN	L	123	ENSP00000371054:S123L	ENSP00000371054:S123L	S	-	2	0	INSL6	5154187	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.126000	0.15769	-0.124000	0.11724	0.591000	0.81541	TCA		TCGA-IB-7651-01A-11D-2154-08	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	1	0	0	76	340	0	94	0	0	1	0	0	94	2		0	0	0	0	0	2	1	1	74	334	0	93	2								-20.000000	1	1	121400	5	38	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RLN2	6019	broad.mit.edu	37	9	5300153	5300153	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5300153G>A	ENST00000381627.3	-	2	891	c.503C>T	c.(502-504)gCt>gTt	p.A168V	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2			11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)			ACATTTATTAGCCAATGCACT	0.373000																								0							SO:0001583	missense			ENST00000381627.3	1	1	hg19	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421148	0.11928	.	.	ENSG00000107014	ENST00000381627	D	0.84944	-1.92	3.24	-5.1	0.02911	Insulin-like (4);	2.252680	0.01724	N	0.028443	T	0.76212	0.3956	L	0.32530	0.975	0.09310	N	1	B	0.18968	0.032	B	0.20955	0.032	T	0.61426	-0.7065	10	0.51188	T	0.08	.	5.4884	0.16763	0.1364:0.2102:0.5552:0.0982	.	168	P04090	REL2_HUMAN	V	168	ENSP00000371040:A168V	ENSP00000371040:A168V	A	-	2	0	RLN2	5290153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.396000	0.01052	-1.078000	0.03117	-2.219000	0.00296	GCT		TCGA-IB-7651-01A-11D-2154-08	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	1	0	1	86	297	0	83	0	5.151739e-02	1	1	0	83	2		0	0	0	0	0	2	1	1	86	293	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CD274	29126	broad.mit.edu	37	9	5467858	5467858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5467858C>T	ENST00000381577.3	+	7	955	c.869C>T	c.(868-870)aCg>aTg	p.T290M	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.T176M	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule			11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)			TTGGAGGAGACGTAATCCAGC	0.423000			T	CIITA	PMBL, Hodgkin Lymphona, 										Dom	yes		9	9p24	29126	CD274 molecule		L	0							SO:0001583	missense			ENST00000381577.3	1	1	hg19	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918869	0.52546	0.0	1.16E-4	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.37584	1.19;5.04	4.21	3.27	0.37495	.	.	.	.	.	T	0.48187	0.1486	L	0.44542	1.39	0.32055	N	0.596435	D;D	0.89917	1.0;0.998	D;P	0.83275	0.996;0.791	T	0.54977	-0.8212	9	0.87932	D	0	-29.1992	7.9256	0.29872	0.0:0.8728:0.0:0.1272	.	176;290	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	M	176;290	ENSP00000370985:T176M;ENSP00000370989:T290M	ENSP00000370985:T176M	T	+	2	0	CD274	5457858	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.939000	0.40213	1.010000	0.39314	0.491000	0.48974	ACG		TCGA-IB-7651-01A-11D-2154-08	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	1	0	1	36	228	0	51	1	6.307156e-01	5	10	0	51	2		0	0	0	0	0	2	1	1	35	219	0	51	2								-20.000000	1	1	121408	2	33	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999552	0.990000	1	9.900000e-01	1
KIAA1432	0	broad.mit.edu	37	9	5754862	5754862	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5754862G>T	ENST00000414202.2	+	15	1815	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2						45		Acute lymphoblastic leukemia(23;0.154)			GATCGTGACAGGTGGCTTAGC	0.284000																								0							SO:0001583	missense			ENST00000414202.2	1	1	hg19	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556094|4.556094	0.86231|0.86231	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83312|0.83312	0.5227|0.5227	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.85636|0.85636	0.1273|0.1273	10|5	0.56958|.	D|.	0.05|.	-16.3166|-16.3166	18.6183|18.6183	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	426;463;542;542|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	C|M	542;542;463;463;426|433	ENSP00000251879:G542C;ENSP00000416696:G542C;ENSP00000370943:G463C;ENSP00000402240:G463C|.	ENSP00000251879:G542C|.	G|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5744862|5744862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.184000|9.184000	0.94893|0.94893	2.379000|2.379000	0.81126|0.81126	0.650000|0.650000	0.86243|0.86243	GGT|AGG		TCGA-IB-7651-01A-11D-2154-08	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	1	0	0	34	384	0	63	0	8.863235e-01	1	44	0	63	2		0	0	0	0	0	2	1	1	33	381	0	63	2								-2.774725	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.910000	0.650000	1.000000	1.000000	0.899761	0.910000	1	7.700000e-01	1
KIAA1432	0	broad.mit.edu	37	9	5774231	5774231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5774231C>A	ENST00000414202.2	+	26	4448	c.4257C>A	c.(4255-4257)gaC>gaA	p.D1419E	KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2						45		Acute lymphoblastic leukemia(23;0.154)			GGACTTACGACTGTTCTGTGT	0.488000																								0							SO:0001583	missense			ENST00000414202.2	1	1	hg19	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.100027|3.100027	0.56183|0.56183	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.7|5.7	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50650|0.50650	0.1628|0.1628	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.58970|.	0.984;0.984|.	D;D|.	0.70016|.	0.967;0.967|.	T|T	0.45323|0.45323	-0.9269|-0.9269	9|5	0.72032|.	D|.	0.01|.	-18.8188|-18.8188	10.5742|10.5742	0.45217|0.45217	0.0:0.8536:0.0:0.1464|0.0:0.8536:0.0:0.1464	.|.	1303;1419|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	E|M	1419;1340;1303|1311	.|.	ENSP00000416696:D1419E|.	D|L	+|+	3|1	2|2	KIAA1432|KIAA1432	5764231|5764231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.787000|2.787000	0.47798|0.47798	1.413000|1.413000	0.46997|0.46997	0.462000|0.462000	0.41574|0.41574	GAC|CTG		TCGA-IB-7651-01A-11D-2154-08	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	1	0	1	54	203	0	61	1	9.985136e-01	2	38	0	61	2		0	0	0	0	0	2	1	1	53	199	0	57	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA2026	158358	broad.mit.edu	37	9	5920791	5920791	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5920791A>G	ENST00000399933.3	-	8	5204	c.5205T>C	c.(5203-5205)tgT>tgC	p.C1735C	KIAA2026_ENST00000381461.2_Silent_p.C1705C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026			46		Acute lymphoblastic leukemia(23;0.158)			CTGATGTTAAACATTTAGGAG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000399933.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	0	0	1	117	460	0	126	1	9.998057e-01	11	40	0	126	2		0	0	0	0	0	2	1	1	116	443	0	126	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA2026	158358	broad.mit.edu	37	9	6007544	6007544	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6007544C>A	ENST00000399933.3	-	1	243	c.244G>T	c.(244-246)Ggc>Tgc	p.G82C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026			46		Acute lymphoblastic leukemia(23;0.158)			ATGCGGTAGCCCTGCTGTAGC	0.662000																								0							SO:0001583	missense			ENST00000399933.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.04	3.749993	0.69533	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.24	4.24	0.50183	Bromodomain (1);	.	.	.	.	T	0.53029	0.1771	N	0.12746	0.255	0.41630	D	0.989012	D	0.89917	1.0	D	0.72075	0.976	T	0.54410	-0.8298	8	0.27785	T	0.31	.	15.1706	0.72869	0.0:1.0:0.0:0.0	.	82	Q5HYC2	K2026_HUMAN	C	82	.	ENSP00000370870:G82C	G	-	1	0	KIAA2026	5997544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.097000	0.64542	2.081000	0.62600	0.491000	0.48974	GGC		TCGA-IB-7651-01A-11D-2154-08	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	1	0	0	29	158	0	31	0	4.281305e-01	1	8	0	31	2		0	0	0	0	0	2	1	1	29	156	0	30	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999706	0.990000	1	9.900000e-01	1
RANBP6	26953	broad.mit.edu	37	9	6014119	6014119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014119G>T	ENST00000259569.5	-	1	1499	c.1489C>A	c.(1489-1491)Cta>Ata	p.L497I	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6			51		Acute lymphoblastic leukemia(23;0.158)			ACGGAATGTAGATTTTTCACC	0.383000																								0							SO:0001583	missense			ENST00000259569.5	0	1	hg19	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990396	0.35131	.	.	ENSG00000137040	ENST00000259569	T	0.22945	1.93	3.89	1.9	0.25705	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.30947	0.0781	M	0.83953	2.67	0.58432	D	0.999999	P;P	0.40553	0.53;0.721	B;P	0.44447	0.333;0.45	T	0.07947	-1.0746	10	0.54805	T	0.06	-4.0108	2.0615	0.03593	0.2887:0.0:0.4467:0.2646	.	85;497	B4DTX6;O60518	.;RNBP6_HUMAN	I	497	ENSP00000259569:L497I	ENSP00000259569:L497I	L	-	1	2	RANBP6	6004119	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	2.717000	0.47227	0.521000	0.28445	0.650000	0.86243	CTA		TCGA-IB-7651-01A-11D-2154-08	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	0	0	0	6	167	0	35	0	3.863780e-01	0	34	0	35	2		0	0	0	0	0	2	1	9.638802e-01	6	164	0	35	2								-8.584059	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.410000	0.170000	0.770000	0.380000	0.438402	0.410000	0	2.700000e-01	5.900000e-01
RANBP6	26953	broad.mit.edu	37	9	6014299	6014299	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014299C>A	ENST00000259569.5	-	1	1319	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6			51		Acute lymphoblastic leukemia(23;0.158)			GGTGCAAAATCTGTAGCCATC	0.418000																								0							SO:0001583	missense			ENST00000259569.5	1	1	hg19	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093604	0.56075	.	.	ENSG00000137040	ENST00000259569	T	0.68025	-0.3	4.21	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.096988	0.64402	D	0.000002	T	0.81941	0.4929	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83086	-0.0135	10	0.48119	T	0.1	-12.605	14.8843	0.70555	0.0:1.0:0.0:0.0	.	25;437	B4DTX6;O60518	.;RNBP6_HUMAN	Y	437	ENSP00000259569:D437Y	ENSP00000259569:D437Y	D	-	1	0	RANBP6	6004299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.634000	0.89283	0.650000	0.86243	GAT		TCGA-IB-7651-01A-11D-2154-08	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	1	0	0	11	224	0	60	0	5.610763e-01	0	38	0	60	2		0	0	0	0	0	2	1	9.982926e-01	11	220	0	60	2								-13.331120	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.530000	0.280000	0.870000	0.510000	0.559933	0.530000	0	4.000000e-01	7.100000e-01
IL33	90865	broad.mit.edu	37	9	6241745	6241745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6241745G>A	ENST00000381434.3	+	1	64	c.51G>A	c.(49-51)tgG>tgA	p.W17*	IL33_ENST00000463336.1_3'UTR|IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*|IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33			16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)			CAGCAAAGTGGAAGAACACAG	0.313000																								0							SO:0001587	stop_gained			ENST00000381434.3	0	1	hg19	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678039	0.47886	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	.	.	.	4.26	1.3	0.21679	.	2.375840	0.01455	N	0.015626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	0.6912	4.6084	0.12389	0.2064:0.1902:0.6034:0.0	.	.	.	.	X	17	.	ENSP00000370842:W17X	W	+	3	0	IL33	6231745	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.121000	0.10643	0.299000	0.22661	0.485000	0.47835	TGG		TCGA-IB-7651-01A-11D-2154-08	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	1	0	1	25	124	0	26	0	4.716816e-01	0	9	0	26	2		0	0	0	0	0	2	1	9.999999e-01	23	124	0	26	2								-15.514490	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999687	0.990000	1	9.900000e-01	1
IL33	90865	broad.mit.edu	37	9	6250583	6250583	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6250583G>A	ENST00000381434.3	+	2	214	c.201G>A	c.(199-201)agG>agA	p.R67R	IL33_ENST00000456383.2_Silent_p.R67R|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33			16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)			CCACCAAAAGGCCTTCACTGA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000381434.3	1	1	hg19	CCDS6468.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	1	0	1	68	235	0	70	0	3.174692e-01	0	5	0	70	2		0	0	0	0	0	2	1	1	67	228	0	69	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UHRF2	115426	broad.mit.edu	37	9	6477759	6477759	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6477759A>G	ENST00000276893.5	+	6	1279	c.1111A>G	c.(1111-1113)Att>Gtt	p.I371V		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase			17		Acute lymphoblastic leukemia(23;0.158)			GGCTTATCATATTTACTGTCT	0.393000																								0							SO:0001583	missense			ENST00000276893.5	1	1	hg19	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973270	0.74246	.	.	ENSG00000147854	ENST00000276893	T	0.56941	0.43	4.69	3.55	0.40652	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056525	0.64402	N	0.000002	T	0.60958	0.2309	M	0.64997	1.995	0.80722	D	1	B;P	0.46859	0.418;0.885	B;P	0.55222	0.326;0.771	T	0.59306	-0.7479	10	0.48119	T	0.1	-8.4574	10.0363	0.42131	0.92:0.0:0.08:0.0	.	148;371	B3KV82;Q96PU4	.;UHRF2_HUMAN	V	371	ENSP00000276893:I371V	ENSP00000276893:I371V	I	+	1	0	UHRF2	6467759	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.352000	0.79404	0.676000	0.31285	-0.333000	0.08304	ATT		TCGA-IB-7651-01A-11D-2154-08	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	1	0	0	27	462	0	92	0	8.898464e-01	0	68	0	92	2		0	0	0	0	0	2	1	9.999999e-01	25	448	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.620000	0.420000	0.870000	0.620000	0.639857	0.620000	0	5.100000e-01	7.500000e-01
GLDC	2731	broad.mit.edu	37	9	6592198	6592198	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6592198A>G	ENST00000321612.6	-	11	1577	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)			37		Acute lymphoblastic leukemia(23;0.161)		Glycine(DB00145)	TTTTTCATTGACTGTTTCATC	0.378000																								0							SO:0001583	missense			ENST00000321612.6	1	1	hg19	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697935	0.88830	.	.	ENSG00000178445	ENST00000321612	D	0.95690	-3.78	5.14	5.14	0.70334	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.133319	0.49916	D	0.000129	D	0.96781	0.8949	M	0.78049	2.395	0.80722	D	1	P	0.52692	0.955	P	0.55749	0.783	D	0.97172	0.9845	10	0.66056	D	0.02	-24.8041	14.9935	0.71412	1.0:0.0:0.0:0.0	.	476	P23378	GCSP_HUMAN	A	476	ENSP00000370737:V476A	ENSP00000370737:V476A	V	-	2	0	GLDC	6582198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.244000	0.89823	1.933000	0.56026	0.459000	0.35465	GTC		TCGA-IB-7651-01A-11D-2154-08	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	1	0	1	64	213	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1	64	210	0	69	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CBWD6	644019	broad.mit.edu	37	9	69238239	69238239	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:69238239G>A	ENST00000377457.5	-	8	758	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M|CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6			4					CCTAAGTGTCGTTCTTAATTT	0.338000																								0							SO:0001583	missense			ENST00000377457.5	1	1	hg19	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189171	0.09547	3.7E-4	0.001723	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.42900	0.96;0.96;0.96	2.35	0.321	0.15883	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.752267	0.13009	N	0.421042	T	0.32466	0.0830	L	0.47190	1.495	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.23619	-1.0183	10	0.46703	T	0.11	-14.1278	7.2111	0.25935	0.2597:0.0:0.7403:0.0	.	218	Q4V339	CBWD6_HUMAN	M	218;182;198;218	ENSP00000366677:T218M;ENSP00000366668:T182M;ENSP00000371836:T198M	ENSP00000366664:T218M	T	-	2	0	CBWD6	68528059	0.086000	0.21541	0.040000	0.18447	0.263000	0.26337	0.873000	0.28052	-0.123000	0.11745	-1.109000	0.02080	ACG		TCGA-IB-7651-01A-11D-2154-08	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	0	0	0	14	469	0	146	1	7.008964e-02	5	9	0	146	2		0	0	0	0	0	2	1	9.996970e-01	13	454	0	146	2								-2.979540	1	0	119170	82	51	1	0	0	0	1.687869	1	0.170000	2.060000	1.810008e-02	0.150000	0.110000	0.180000	0.170000	0.179147	0.150000	0	1.300000e-01	1.800000e-01
PGM5	5239	broad.mit.edu	37	9	71098868	71098868	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71098868C>T	ENST00000396396.1	+	9	1612	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5			34					CCTTCATTGGCCAGCAGTTTG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000396396.1	1	1	hg19	CCDS6622.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	1	0	1	71	363	0	92	0	7.915752e-01	0	17	0	92	2		0	0	0	0	0	2	1	1	71	359	0	92	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KANK1	23189	broad.mit.edu	37	9	712587	712587	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:712587G>T	ENST00000382303.1	+	7	2473	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	KANK1_ENST00000382297.2_Missense_Mutation_p.E607D|KANK1_ENST00000382293.3_Missense_Mutation_p.E449D|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1			43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)			GCAACACAGAGGAGTCTGTGA	0.507000																								0							SO:0001583	missense			ENST00000382303.1	1	1	hg19	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706310	0.30232	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.79454	-1.27;-1.27;-1.27	5.96	1.25	0.21368	.	0.219708	0.31909	N	0.006867	T	0.71668	0.3367	L	0.43152	1.355	0.80722	D	1	P;B	0.48911	0.917;0.074	P;B	0.49140	0.601;0.055	T	0.68481	-0.5397	10	0.46703	T	0.11	-0.6817	6.9281	0.24426	0.2122:0.2542:0.5336:0.0	.	607;607	Q5W0W1;Q14678	.;KANK1_HUMAN	D	607;607;607;449	ENSP00000371740:E607D;ENSP00000371734:E607D;ENSP00000371730:E449D	ENSP00000346479:E607D	E	+	3	2	KANK1	702587	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.463000	0.35277	0.815000	0.34398	0.650000	0.86243	GAG		TCGA-IB-7651-01A-11D-2154-08	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	0	0	1	57	297	1	70	1	9.131065e-01	11	39	1	70	5		0	0	0	0	0	2	1	9.999997e-01	55	289	1	70	17								-3.090810	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PIP5K1B	8395	broad.mit.edu	37	9	71532675	71532675	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71532675C>T	ENST00000265382.3	+	9	1288	c.983C>T	c.(982-984)aCa>aTa	p.T328I	PIP5K1B_ENST00000541509.1_Splice_Site_p.T328I	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta			4					AACCCAGACACGTAAGTGCAG	0.517000																								0							SO:0001630	splice_region_variant			ENST00000265382.3	1	0	hg19	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702089	0.48307	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.110476	0.56097	D	0.000021	T	0.36193	0.0958	M	0.66439	2.03	0.58432	D	0.999992	P	0.44877	0.845	B	0.40782	0.34	T	0.13629	-1.0502	10	0.20046	T	0.44	-10.8614	19.4619	0.94921	0.0:1.0:0.0:0.0	.	328	O14986	PI51B_HUMAN	I	328;328;328;275	ENSP00000438082:T328I;ENSP00000265382:T328I	ENSP00000265382:T328I	T	+	2	0	PIP5K1B	70722495	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.287000	0.59001	2.592000	0.87571	0.655000	0.94253	ACA		TCGA-IB-7651-01A-11D-2154-08	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	1	0	0	50	230	0	60	1	9.405737e-01	4	20	0	60	2		0	0	0	0	0	2	1	1	50	223	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIP5K1B	8395	broad.mit.edu	37	9	71555571	71555571	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555571C>T	ENST00000265382.3	+	14	1672	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta			4					GCCCTGGGATCCCGACACAGG	0.433000																								0							SO:0001583	missense			ENST00000265382.3	1	1	hg19	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872575	0.51695	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.27890	1.67;1.64	5.78	5.78	0.91487	.	0.172614	0.53938	D	0.000054	T	0.34483	0.0899	L	0.53249	1.67	0.50171	D	0.999853	B	0.30455	0.28	B	0.28916	0.096	T	0.05402	-1.0887	10	0.40728	T	0.16	-0.1659	20.0065	0.97435	0.0:1.0:0.0:0.0	.	456	O14986	PI51B_HUMAN	F	456;456;456;403	ENSP00000438082:S456F;ENSP00000265382:S456F	ENSP00000265382:S456F	S	+	2	0	PIP5K1B	70745391	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.526000	0.67116	2.731000	0.93534	0.655000	0.94253	TCC		TCGA-IB-7651-01A-11D-2154-08	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	1	0	1	134	633	0	121	1	9.992940e-01	18	34	0	121	2		0	0	0	0	0	2	1	1	133	611	0	121	2								-20.000000	1	0	121412	1	33	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIP5K1B	8395	broad.mit.edu	37	9	71555659	71555659	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555659C>T	ENST00000265382.3	+	14	1760	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta			4					CTTCCTTATACGTCAATGAGC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000265382.3	1	1	hg19	CCDS6624.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	1	0	0	154	594	0	148	1	9.956310e-01	12	22	0	148	2		0	0	0	0	0	2	1	1	152	586	0	146	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKACG	5568	broad.mit.edu	37	9	71628475	71628475	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628475C>A	ENST00000377276.2	-	1	564	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma			22					GCAGGTAGCCCTGCTGGTCGA	0.632000													Esophageal Squamous(110;2236 2623 32146)											0							SO:0001583	missense			ENST00000377276.2	1	1	hg19	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	2.585	-0.296432	0.05532	.	.	ENSG00000165059	ENST00000377276	T	0.07908	3.15	1.6	-3.21	0.05140	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29964	U	0.010749	T	0.03477	0.0100	N	0.22421	0.69	0.25935	N	0.982946	B	0.02656	0.0	B	0.09377	0.004	T	0.36866	-0.9730	10	0.21014	T	0.42	.	1.4287	0.02328	0.2056:0.4383:0.203:0.1532	.	178	P22612	KAPCG_HUMAN	H	178	ENSP00000366488:Q178H	ENSP00000366488:Q178H	Q	-	3	2	PRKACG	70818295	0.005000	0.15991	0.000000	0.03702	0.007000	0.05969	-2.528000	0.00945	-1.501000	0.01817	-0.373000	0.07131	CAG		TCGA-IB-7651-01A-11D-2154-08	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1	1	0	1	38	114	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1	37	109	0	31	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRKACG	5568	broad.mit.edu	37	9	71628546	71628546	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628546C>T	ENST00000377276.2	-	1	493	c.463G>A	c.(463-465)Gtc>Atc	p.V155I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma			22					AGGTACTGGACGGCCAGGACG	0.622000													Esophageal Squamous(110;2236 2623 32146)											0							SO:0001583	missense			ENST00000377276.2	1	1	hg19	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878012	0.51801	.	.	ENSG00000165059	ENST00000377276	T	0.08008	3.14	1.49	-2.77	0.05877	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32028	U	0.006695	T	0.03263	0.0095	N	0.16602	0.42	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.33111	-0.9881	10	0.31617	T	0.26	.	0.4807	0.00547	0.4379:0.2053:0.1547:0.2021	.	155	P22612	KAPCG_HUMAN	I	155	ENSP00000366488:V155I	ENSP00000366488:V155I	V	-	1	0	PRKACG	70818366	0.241000	0.23857	0.000000	0.03702	0.002000	0.02628	1.058000	0.30504	-1.715000	0.01389	-0.520000	0.04383	GTC		TCGA-IB-7651-01A-11D-2154-08	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1	1	0	1	32	117	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	31	117	0	27	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TJP2	9414	broad.mit.edu	37	9	71831325	71831325	+	Missense_Mutation	SNP	C	C	T	rs138241615	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71831325C>T	ENST00000377245.4	+	3	393	c.185C>T	c.(184-186)aCg>aTg	p.T62M	TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M|TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2			35					AATGGAGAAACGTCAATTGTC	0.512000																								0							SO:0001583	missense			ENST00000377245.4	1	0	hg19	CCDS6627.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	C	23.5	4.421998	0.83559	2.27E-4	0.002791	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.095459	0.64402	D	0.000001	T	0.43456	0.1248	N	0.21142	0.635	0.52099	D	0.999947	D;D;P;D;P	0.89917	1.0;0.959;0.744;0.967;0.859	D;P;B;P;B	0.66351	0.943;0.639;0.129;0.754;0.259	T	0.33828	-0.9853	10	0.56958	D	0.05	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	93;66;62;62;62	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	39;39;39;62;62;62;66;93	ENSP00000392178:T39M;ENSP00000366469:T39M;ENSP00000402941:T39M;ENSP00000366453:T62M;ENSP00000345893:T62M;ENSP00000265384:T62M;ENSP00000442090:T66M;ENSP00000438262:T93M	ENSP00000265384:T62M	T	+	2	0	TJP2	71021145	1.000000	0.71417	0.121000	0.21740	0.327000	0.28475	4.637000	0.61346	2.805000	0.96524	0.655000	0.94253	ACG		TCGA-IB-7651-01A-11D-2154-08	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1	41	269	0	59	1	9.998859e-01	43	49	0	59	2		0	0	0	0	0	2	1	1	41	265	0	57	2								-5.327307	1	1	121412	179	53	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999692	0.990000	1	9.900000e-01	1
TJP2	9414	broad.mit.edu	37	9	71851087	71851087	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71851087C>A	ENST00000377245.4	+	13	2132	c.1924C>A	c.(1924-1926)Ctg>Atg	p.L642M	TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M|TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2			35					TGACGGCAAGCTGGGCAACTG	0.507000																								0							SO:0001583	missense			ENST00000377245.4	1	1	hg19	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977115	0.74360	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10763	2.86;2.84;2.86;2.86;2.85;2.89	5.43	4.53	0.55603	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000002	T	0.31482	0.0798	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.982;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.942;0.999;1.0;1.0	T	0.03060	-1.1077	10	0.45353	T	0.12	.	14.3256	0.66518	0.0:0.9285:0.0:0.0715	.	673;646;642;642;642	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	M	619;642;642;642;646;673	ENSP00000392178:L619M;ENSP00000366453:L642M;ENSP00000345893:L642M;ENSP00000265384:L642M;ENSP00000442090:L646M;ENSP00000438262:L673M	ENSP00000265384:L642M	L	+	1	2	TJP2	71040907	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.856000	0.62932	1.433000	0.47394	0.491000	0.48974	CTG		TCGA-IB-7651-01A-11D-2154-08	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1	64	299	0	79	1	1	90	117	0	79	2		0	0	0	0	0	2	1	1	63	288	0	79	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP2	9414	broad.mit.edu	37	9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2			35					CAAGGAGAAGCGGTTTGGGTC	0.418000																								0							SO:0001583	missense			ENST00000377245.4	1	1	hg19	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168643	0.78339	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.15	5.15	0.70609	.	0.060656	0.64402	D	0.000003	T	0.40222	0.1108	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.986;0.999;1.0	D;P;P;P;P;D	0.91635	0.997;0.861;0.891;0.469;0.891;0.999	T	0.02026	-1.1227	10	0.39692	T	0.17	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	913;886;859;882;882;882	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;.;ZO2_HUMAN;.	V	859;882;882;882;886;913	ENSP00000392178:A859V;ENSP00000366453:A882V;ENSP00000345893:A882V;ENSP00000265384:A882V;ENSP00000442090:A886V;ENSP00000438262:A913V	ENSP00000265384:A882V	A	+	2	0	TJP2	71051504	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.626000	0.61269	2.838000	0.97847	0.655000	0.94253	GCG		TCGA-IB-7651-01A-11D-2154-08	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1	79	361	0	100	1	1	109	156	0	100	2		0	0	0	0	0	2	1	1	79	354	0	100	2								-3.292416	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP2	9414	broad.mit.edu	37	9	71863050	71863050	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71863050C>T	ENST00000377245.4	+	19	2998	c.2790C>T	c.(2788-2790)ggC>ggT	p.G930G	TJP2_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000453658.2_Silent_p.G907G|TJP2_ENST00000348208.4_Silent_p.G930G|TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000539225.1_Silent_p.G961G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	p.G930G(1)		35					GTGAAGGAGGCGCCTACACTG	0.622000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000377245.4	1	1	hg19	CCDS6627.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1	68	185	0	60	1	1	81	144	0	60	2		0	0	0	0	0	2	1	1	64	180	0	58	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TJP2	9414	broad.mit.edu	37	9	71869243	71869243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71869243C>T	ENST00000377245.4	+	23	3734	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2			35					ACACTCCAAGCGCGGTTACTA	0.552000																								0							SO:0001583	missense			ENST00000377245.4	1	1	hg19	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548194	0.45383	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.18810	2.58;2.43;2.57;2.19;2.46	5.56	5.56	0.83823	.	0.280739	0.31134	N	0.008197	T	0.43211	0.1237	L	0.57536	1.79	0.31688	N	0.642221	D;D;D;D	0.89917	0.999;0.995;1.0;0.999	P;P;D;P	0.77004	0.832;0.707;0.989;0.708	T	0.49331	-0.8951	10	0.66056	D	0.02	.	15.2602	0.73615	0.1488:0.8512:0.0:0.0	.	1207;1143;1029;1176	F5H301;F5H886;Q9UDY2-2;Q9UDY2	.;.;.;ZO2_HUMAN	C	1006;1176;1029;1143;1207	ENSP00000392178:R1006C;ENSP00000366453:R1176C;ENSP00000345893:R1029C;ENSP00000442090:R1143C;ENSP00000438262:R1207C	ENSP00000345893:R1029C	R	+	1	0	TJP2	71059063	1.000000	0.71417	0.070000	0.20053	0.025000	0.11179	3.244000	0.51399	2.620000	0.88729	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	1	0	1	92	320	0	119	1	1	98	171	0	119	2		0	0	0	0	0	2	1	1	91	317	0	119	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APBA1	320	broad.mit.edu	37	9	72064647	72064647	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72064647G>A	ENST00000265381.4	-	10	2256	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1			37					TGGGGAGGATGGATCCCCAGC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000265381.4	1	1	hg19	CCDS6630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	1	0	1	84	348	0	77	0	4.831881e-01	1	7	0	77	2		0	0	0	0	0	2	1	1	82	338	0	77	2								-3.301090	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
APBA1	320	broad.mit.edu	37	9	72067200	72067200	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72067200C>A	ENST00000265381.4	-	9	2028	c.1806G>T	c.(1804-1806)caG>caT	p.Q602H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1			37					GTCCGATGGACTGTGCAATCA	0.557000																								0							SO:0001583	missense			ENST00000265381.4	1	1	hg19	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.650194	0.67472	.	.	ENSG00000107282	ENST00000265381	T	0.21191	2.02	5.24	2.38	0.29361	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.42120	-0.9470	10	0.87932	D	0	-15.9216	11.3888	0.49802	0.0:0.7916:0.0:0.2084	.	602	Q02410	APBA1_HUMAN	H	602	ENSP00000265381:Q602H	ENSP00000265381:Q602H	Q	-	3	2	APBA1	71257020	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.631000	0.46502	0.732000	0.32470	-0.726000	0.03593	CAG		TCGA-IB-7651-01A-11D-2154-08	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	1	0	1	39	272	0	66	0	8.322920e-02	0	4	0	66	2		0	0	0	0	0	2	1	1	37	268	0	66	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999139	0.990000	1	9.900000e-01	1
APBA1	320	broad.mit.edu	37	9	72131056	72131056	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72131056G>A	ENST00000265381.4	-	2	1293	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1			37					TCACCTCCTCGATGGCCTCCT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000265381.4	1	1	hg19	CCDS6630.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	1	0	1	84	448	0	85	0	6.821522e-02	0	3	0	85	2		0	0	0	0	0	2	1	1	83	440	0	85	2								-3.078864	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTAR1	375743	broad.mit.edu	37	9	72347116	72347116	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72347116T>A	ENST00000340434.4	-	5	584	c.581A>T	c.(580-582)aAc>aTc	p.N194I	PTAR1_ENST00000377200.5_Missense_Mutation_p.N115I	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1			5					AGCATTATAGTTGCTTGGGTA	0.493000																								0							SO:0001583	missense			ENST00000340434.4	1	1	hg19	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997356	0.93227	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	T;T	0.64991	-0.13;-0.13	6.03	6.03	0.97812	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86704	0.1931	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	194	Q7Z6K3	PTAR1_HUMAN	I	115;194	ENSP00000366405:N115I;ENSP00000344299:N194I	ENSP00000344299:N194I	N	-	2	0	PTAR1	71536936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.012000	0.88631	2.308000	0.77769	0.533000	0.62120	AAC		TCGA-IB-7651-01A-11D-2154-08	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	1	0	1	45	154	0	46	0	8.555687e-01	1	13	0	46	2		0	0	0	0	0	2	1	1	42	150	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAMDC2	256691	broad.mit.edu	37	9	72741317	72741317	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72741317C>T	ENST00000377182.4	+	6	1503	c.886C>T	c.(886-888)Cct>Tct	p.P296S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2			14					GTTCAGTGCTCCTTACCCCAT	0.572000																								0							SO:0001583	missense			ENST00000377182.4	1	1	hg19	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497224	0.85069	.	.	ENSG00000165072	ENST00000377182	T	0.01918	4.56	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.047761	0.85682	D	0.000000	T	0.09730	0.0239	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	T	0.44513	-0.9323	10	0.08179	T	0.78	-10.1669	20.5792	0.99380	0.0:1.0:0.0:0.0	.	296	Q7Z304	MAMC2_HUMAN	S	296	ENSP00000366387:P296S	ENSP00000366387:P296S	P	+	1	0	MAMDC2	71931137	1.000000	0.71417	0.491000	0.27477	0.792000	0.44763	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	1	0	1	30	148	0	27	0	2.775541e-01	0	6	0	27	2		0	0	0	0	0	2	1	1	30	148	0	27	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999927	0.990000	1	9.900000e-01	1
MAMDC2	256691	broad.mit.edu	37	9	72833493	72833493	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72833493G>T	ENST00000377182.4	+	12	2509	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2			14					ATTGAATACAGCTGTGAGAGG	0.428000																								0							SO:0001583	missense			ENST00000377182.4	1	1	hg19	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361880	0.61403	.	.	ENSG00000165072	ENST00000377182	T	0.02446	4.29	5.32	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.503086	0.25238	N	0.032109	T	0.06096	0.0158	M	0.69185	2.1	0.34456	D	0.701231	P	0.48294	0.908	P	0.49953	0.627	T	0.27157	-1.0082	10	0.36615	T	0.2	-16.4135	5.7393	0.18083	0.1351:0.3581:0.5068:0.0	.	631	Q7Z304	MAMC2_HUMAN	I	631	ENSP00000366387:S631I	ENSP00000366387:S631I	S	+	2	0	MAMDC2	72023313	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.943000	0.56621	1.387000	0.46486	0.580000	0.79431	AGC		TCGA-IB-7651-01A-11D-2154-08	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	1	0	1	39	165	0	54	0	4.060919e-01	0	7	0	54	2		0	0	0	0	0	2	1	1	38	159	0	54	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SMC5	23137	broad.mit.edu	37	9	72965133	72965133	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72965133T>G	ENST00000361138.5	+	23	3051	c.2993T>G	c.(2992-2994)gTt>gGt	p.V998G	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5			35					GAAAGAAGTGTTTCTACCATG	0.353000																								0							SO:0001583	missense			ENST00000361138.5	1	1	hg19	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633552	0.87660	.	.	ENSG00000198887	ENST00000361138	T	0.69926	-0.44	6.07	6.07	0.98685	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86892	0.2049	10	0.72032	D	0.01	-20.4933	16.635	0.85050	0.0:0.0:0.0:1.0	.	998	Q8IY18	SMC5_HUMAN	G	998	ENSP00000354957:V998G	ENSP00000354957:V998G	V	+	2	0	SMC5	72154953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.330000	0.79161	0.477000	0.44152	GTT		TCGA-IB-7651-01A-11D-2154-08	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	1	0	0	17	346	0	96	1	8.128554e-01	3	62	0	96	2		0	0	0	0	0	2	1	9.999628e-01	17	340	0	96	2								-18.246150	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.530000	0.320000	0.800000	0.530000	0.554225	0.530000	0	4.200000e-01	6.700000e-01
TRPM3	80036	broad.mit.edu	37	9	73151789	73151789	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73151789T>C	ENST00000377110.3	-	25	4447	c.4204A>G	c.(4204-4206)Atc>Gtc	p.I1402V	TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3			95					GAGACATAGATGTCTATACAC	0.498000																								0							SO:0001583	missense			ENST00000377110.3	1	1	hg19	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.28|18.28	3.590243|3.590243	0.66105|0.66105	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.61627	.|0.21;0.1;0.1;0.09;0.2;0.09;0.09;0.1;0.1;0.19	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103719	.|0.64402	.|D	.|0.000004	T|T	0.64294|0.64294	0.2585|0.2585	L|L	0.29908|0.29908	0.895|0.895	0.46356|0.46356	D|D	0.999|0.999	.|P;D;P;P;P;P;P	.|0.62365	.|0.876;0.991;0.606;0.803;0.876;0.541;0.803	.|D;D;B;P;D;B;P	.|0.72625	.|0.927;0.978;0.136;0.847;0.927;0.265;0.847	T|T	0.58662|0.58662	-0.7597|-0.7597	5|10	.|0.16896	.|T	.|0.51	-26.045|-26.045	16.5446|16.5446	0.84426|0.84426	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1402;1392;1406;1264;1261;1374;1261	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	R|V	1250|1402;1274;1264;1261;1406;1261;1261;1274;1264;1429	.|ENSP00000366314:I1402V;ENSP00000366310:I1274V;ENSP00000354066:I1264V;ENSP00000366309:I1261V;ENSP00000350140:I1406V;ENSP00000386127:I1261V;ENSP00000379581:I1261V;ENSP00000379587:I1274V;ENSP00000350791:I1264V;ENSP00000389542:I1429V	.|ENSP00000350140:I1406V	H|I	-|-	2|1	0|0	TRPM3|TRPM3	72341609|72341609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.499000|7.499000	0.81566|0.81566	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CAT|ATC		TCGA-IB-7651-01A-11D-2154-08	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	1	0	1	92	337	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1	92	331	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM3	80036	broad.mit.edu	37	9	73213583	73213583	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73213583G>T	ENST00000377111.2	-	20	3007	c.2764C>A	c.(2764-2766)Ctg>Atg	p.L922M	TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M|TRPM3_ENST00000377110.3_Missense_Mutation_p.L922M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3			95					TCTGACATCAGAATCTATAAG	0.488000																								0							SO:0001583	missense			ENST00000377111.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.620421|2.620421	0.46736|0.46736	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14|.	5.17|5.17	2.11|2.11	0.27256|0.27256	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.39279|0.39279	0.1072|0.1072	N|N	0.17764|0.17764	0.52|0.52	0.40532|0.40532	D|D	0.980949|0.980949	D;P;D;P;P;P;D;B|.	0.89917|.	0.997;0.896;0.999;0.937;0.605;0.817;1.0;0.02|.	D;P;D;P;P;P;D;B|.	0.91635|.	0.982;0.789;0.999;0.81;0.893;0.802;0.99;0.195|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.54805|.	T|.	0.06|.	-12.4354|-12.4354	9.5748|9.5748	0.39450|0.39450	0.4221:0.0:0.5779:0.0|0.4221:0.0:0.5779:0.0	.|.	922;922;912;926;784;781;894;769|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	M|Y	922;922;794;784;781;926;781;769;794;784;949|770	ENSP00000366315:L922M;ENSP00000366314:L922M;ENSP00000366310:L794M;ENSP00000354066:L784M;ENSP00000366309:L781M;ENSP00000350140:L926M;ENSP00000386127:L781M;ENSP00000379581:L769M;ENSP00000379587:L794M;ENSP00000350791:L784M;ENSP00000389542:L949M|.	ENSP00000350140:L926M|.	L|S	-|-	1|2	2|0	TRPM3|TRPM3	72403403|72403403	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	2.047000|2.047000	0.41269|0.41269	0.595000|0.595000	0.29777|0.29777	-0.213000|-0.213000	0.12676|0.12676	CTG|TCT		TCGA-IB-7651-01A-11D-2154-08	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	1	0	1	65	375	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	63	369	0	108	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TRPM3	80036	broad.mit.edu	37	9	73230953	73230953	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73230953G>T	ENST00000377111.2	-	17	2604	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R|TRPM3_ENST00000377110.3_Missense_Mutation_p.S787R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3			95					TGAACTCCAAGCTGAGAATTG	0.398000																								0							SO:0001583	missense			ENST00000377111.2	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.569346|1.569346	0.28003|0.28003	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.087739	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	N|N	0.08118|0.08118	0|0	0.42438|0.42438	D|D	0.992706|0.992706	.|B;B;P;B;B;B;B;P	.|0.40266	.|0.008;0.001;0.565;0.101;0.101;0.404;0.003;0.71	.|B;B;P;B;B;B;B;B	.|0.50490	.|0.026;0.005;0.642;0.122;0.078;0.109;0.015;0.193	T|T	0.52253|0.52253	-0.8600|-0.8600	5|10	.|0.19147	.|T	.|0.46	-23.5504|-23.5504	19.6745|19.6745	0.95926|0.95926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|787;787;777;791;649;646;759;634	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	I|R	636|787;787;659;649;646;791;646;634;659;649;814	.|ENSP00000366315:S787R;ENSP00000366314:S787R;ENSP00000366310:S659R;ENSP00000354066:S649R;ENSP00000366309:S646R;ENSP00000350140:S791R;ENSP00000386127:S646R;ENSP00000379581:S634R;ENSP00000379587:S659R;ENSP00000350791:S649R;ENSP00000389542:S814R	.|ENSP00000350140:S791R	L|S	-|-	1|3	0|2	TRPM3|TRPM3	72420773|72420773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.250000|2.250000	0.43178|0.43178	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTT|AGC		TCGA-IB-7651-01A-11D-2154-08	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	1	0	0	34	180	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1	34	179	0	31	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999936	0.990000	1	9.900000e-01	1
TRPM3	80036	broad.mit.edu	37	9	73426137	73426137	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73426137C>T	ENST00000396292.4	-	5	537	c.538G>A	c.(538-540)Gac>Aac	p.D180N	TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000377110.3_Intron|MIR204_ENST00000385200.1_RNA|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.D180N|TRPM3_ENST00000357533.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3			95					AAGCGGGAGTCAAGAGAGAAA	0.353000																								0							SO:0001583	missense			ENST00000396292.4	1	1	hg19	CCDS6635.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879218	0.33162	.	.	ENSG00000083067	ENST00000377106;ENST00000360823;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000396283	T;T;T;T;T;T	0.66460	0.56;0.55;0.56;0.55;0.6;-0.21	4.79	4.79	0.61399	.	.	.	.	.	T	0.48995	0.1531	N	0.08118	0	0.80722	D	1	B	0.24258	0.1	B	0.28139	0.086	T	0.50311	-0.8843	9	0.56958	D	0.05	.	13.6483	0.62294	0.0:1.0:0.0:0.0	.	180	A2A3F4	.	N	180;180;180;180;335;180	ENSP00000366310:D180N;ENSP00000354066:D180N;ENSP00000379587:D180N;ENSP00000350791:D180N;ENSP00000389542:D335N;ENSP00000379579:D180N	ENSP00000350791:D180N	D	-	1	0	TRPM3	72615957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.987000	0.49378	2.941000	0.99782	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	TRPM3-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214161.2	1	0	0	11	91	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	9.983940e-01	10	89	0	25	2								-7.509190	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.650000	1.000000	1.000000	0.957244	0.990000	1	8.900000e-01	1
TMEM2	23670	broad.mit.edu	37	9	74337391	74337391	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74337391G>T	ENST00000377044.4	-	12	2758	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2			56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)			AGCAGCACTAGAGTTGGTTGT	0.378000																								0							SO:0001583	missense			ENST00000377044.4	1	1	hg19	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691561	0.68271	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.55413	0.52;0.52	5.38	5.38	0.77491	Pectin lyase fold/virulence factor (1);	0.095821	0.64402	D	0.000001	T	0.43500	0.1250	N	0.14661	0.345	0.80722	D	1	B;B	0.26744	0.158;0.131	B;B	0.31946	0.089;0.138	T	0.44097	-0.9350	10	0.72032	D	0.01	.	19.4993	0.95086	0.0:0.0:1.0:0.0	.	740;677	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Y	740;677	ENSP00000366243:S740Y;ENSP00000366266:S677Y	ENSP00000366243:S740Y	S	-	2	0	TMEM2	73527211	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	9.248000	0.95456	2.687000	0.91594	0.557000	0.71058	TCT		TCGA-IB-7651-01A-11D-2154-08	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	1	0	1	61	269	0	80	1	1	35	94	0	80	2		0	0	0	0	0	2	1	1	60	267	0	80	2								-3.274547	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFAND5	7763	broad.mit.edu	37	9	74971957	74971957	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74971957C>A	ENST00000237937.3	-	5	940	c.383G>T	c.(382-384)aGt>aTt	p.S128I	ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5			6					AACTGATGGACTGGGCTGAGT	0.378000																								0							SO:0001583	missense			ENST00000237937.3	1	1	hg19	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763741	0.49574	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.274244	0.46145	D	0.000312	T	0.51686	0.1689	N	0.20986	0.625	0.41066	D	0.985415	B	0.06786	0.001	B	0.06405	0.002	T	0.41770	-0.9490	9	0.46703	T	0.11	-10.2096	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	128	O76080	ZFAN5_HUMAN	I	128;128;128;128;180	.	ENSP00000237937:S128I	S	-	2	0	ZFAND5	74161777	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.034000	0.64152	2.941000	0.99782	0.655000	0.94253	AGT		TCGA-IB-7651-01A-11D-2154-08	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1	1	0	1	48	187	0	47	1	1	105	774	0	47	2		0	0	0	0	0	2	1	1	48	180	0	47	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZFAND5	7763	broad.mit.edu	37	9	74975027	74975027	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74975027T>C	ENST00000237937.3	-	3	819	c.262A>G	c.(262-264)Aga>Gga	p.R88G	ZFAND5_ENST00000376962.5_Splice_Site_p.R88G|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Splice_Site_p.R88G|ZFAND5_ENST00000376960.4_Splice_Site_p.R88G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5			6					CAATCTTACCTTGATTTTTCA	0.393000																								0							SO:0001630	splice_region_variant			ENST00000237937.3	0	1	hg19	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169819	0.38315	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	0.424530	0.28908	N	0.013748	T	0.57636	0.2067	L	0.52573	1.65	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.53085	-0.8488	9	0.22706	T	0.39	-12.4801	16.5885	0.84745	0.0:0.0:0.0:1.0	.	88	O76080	ZFAN5_HUMAN	G	88;88;88;88;140	.	ENSP00000237937:R88G	R	-	1	2	ZFAND5	74164847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.784000	0.75084	2.317000	0.78254	0.460000	0.39030	AGA		TCGA-IB-7651-01A-11D-2154-08	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1	0	0	0	7	247	0	57	1	9.997803e-01	2	663	0	57	2		0	0	0	0	0	2	1	9.796140e-01	7	242	0	57	2								-3.620993	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.320000	0.140000	0.600000	0.310000	0.348784	0.320000	0	2.200000e-01	4.600000e-01
ANXA1	301	broad.mit.edu	37	9	75775219	75775219	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:75775219T>C	ENST00000376911.1	+	4	1193	c.311T>C	c.(310-312)cTt>cCt	p.L104P	ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P			P04083	ANXA1_HUMAN	annexin A1			8		all_epithelial(88;2.54e-11)		Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ACAGGTCACCTTGAGGAGGTT	0.413000																								0							SO:0001583	missense			ENST00000376911.1	1	1	hg19	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284754	0.80803	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.92	5.92	0.95590	Annexin repeat, conserved site (1);	0.182863	0.48767	D	0.000169	T	0.32010	0.0815	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.43829	-0.9367	10	0.87932	D	0	.	16.0339	0.80608	0.0:0.0:0.0:1.0	.	104	P04083	ANXA1_HUMAN	P	104;115;104;104	ENSP00000257497:L104P;ENSP00000412489:L115P;ENSP00000414013:L104P;ENSP00000366109:L104P	ENSP00000257497:L104P	L	+	2	0	ANXA1	74965039	0.838000	0.29461	0.927000	0.36925	0.644000	0.38419	5.484000	0.66844	2.260000	0.74910	0.528000	0.53228	CTT		TCGA-IB-7651-01A-11D-2154-08	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	1	0	1	81	382	0	96	1	1	214	909	0	96	2		0	0	0	0	0	2	1	1	79	378	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RORB	6096	broad.mit.edu	37	9	77245232	77245232	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77245232C>T	ENST00000396204.2	+	2	75	c.75C>T	c.(73-75)ggC>ggT	p.G25G	RORB_ENST00000376896.3_Silent_p.G14G			Q92753	RORB_HUMAN	RAR-related orphan receptor B			12				Melatonin(DB01065)	AAATTTGTGGCGATAAGTCCT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000396204.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	RORB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	47	246	0	76	0	2.693541e-02	0	2	0	76	2		0	0	0	0	0	2	1	9.999979e-01	47	239	1	76	14								-2.987471	1	1	121412	5	39	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	9.900000e-01	1
TRPM6	140803	broad.mit.edu	37	9	77354718	77354718	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354718A>G	ENST00000360774.1	-	34	5645	c.5408T>C	c.(5407-5409)gTc>gCc	p.V1803A	TRPM6_ENST00000451710.3_Missense_Mutation_p.V1807A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6			126					AAAGGACTTGACAATGAAAAC	0.498000																								0							SO:0001583	missense			ENST00000360774.1	1	1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584628	0.86748	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35	5.96	5.96	0.96718	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.053822	0.64402	D	0.000001	T	0.14056	0.0340	N	0.17082	0.46	0.50039	D	0.999841	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.996;0.997	D;D;D;D;P;D	0.77557	0.971;0.986;0.99;0.965;0.885;0.941	T	0.09357	-1.0678	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	350;636;754;1803;1798;1798	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	A	1803;1807;758;640;1798;1798;349;1807	ENSP00000354006:V1803A;ENSP00000407341:V1807A;ENSP00000366068:V758A;ENSP00000366067:V640A;ENSP00000396672:V1798A;ENSP00000354962:V1798A;ENSP00000366060:V1807A	ENSP00000354006:V1803A	V	-	2	0	TRPM6	76544538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.288000	0.78691	2.285000	0.76669	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	0	0	0	27	696	1	135		0	0	0	1	135	2		0	0	0	0	0	2	1	9.266806e-01	27	683	1	135	18								-19.999890	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.420000	0.280000	0.600000	0.420000	0.437646	0.420000	0	3.500000e-01	5.100000e-01
TRPM6	140803	broad.mit.edu	37	9	77354846	77354846	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354846C>A	ENST00000360774.1	-	34	5517	c.5280G>T	c.(5278-5280)caG>caT	p.Q1760H	TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6			126					CTCTCCCACGCTGAGACCAAG	0.502000																								0							SO:0001583	missense			ENST00000360774.1	1	1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209622	0.79240	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28	5.96	5.06	0.68205	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.440036	0.27807	N	0.017768	T	0.15825	0.0381	L	0.57536	1.79	0.44985	D	0.998002	B;B;P;D;D;D	0.64830	0.415;0.415;0.886;0.99;0.971;0.994	B;B;B;P;P;P	0.54140	0.106;0.167;0.408;0.558;0.545;0.743	T	0.00045	-1.2216	10	0.56958	D	0.05	.	15.4711	0.75441	0.0:0.9331:0.0:0.0669	.	307;593;711;1760;1755;1755	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	H	1760;1764;715;597;1755;1755;306;1764	ENSP00000354006:Q1760H;ENSP00000407341:Q1764H;ENSP00000366068:Q715H;ENSP00000366067:Q597H;ENSP00000396672:Q1755H;ENSP00000354962:Q1755H;ENSP00000366060:Q1764H	ENSP00000354006:Q1760H	Q	-	3	2	TRPM6	76544666	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.496000	0.35638	2.832000	0.97577	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1	62	292	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1	60	285	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM6	140803	broad.mit.edu	37	9	77377222	77377222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377222C>T	ENST00000360774.1	-	26	4602	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	TRPM6_ENST00000451710.3_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6			126					CTGAAAATGCCCAGTTTACAT	0.473000																								0							SO:0001587	stop_gained			ENST00000360774.1	0	1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	43	9.921600	0.99295	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	.	.	.	5.81	5.81	0.92471	.	1.045860	0.07371	N	0.885724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0621	0.97678	0.0:1.0:0.0:0.0	.	.	.	.	X	1455;1455;1450;1450;1455	.	ENSP00000354006:W1455X	W	-	3	0	TRPM6	76567042	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.331000	0.65905	2.750000	0.94351	0.655000	0.94253	TGG		TCGA-IB-7651-01A-11D-2154-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	0	77	426	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	74	416	0	83	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM6	140803	broad.mit.edu	37	9	77377865	77377865	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377865C>A	ENST00000360774.1	-	26	3959	c.3722G>T	c.(3721-3723)aGa>aTa	p.R1241I	TRPM6_ENST00000451710.3_Missense_Mutation_p.R1241I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1241I|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1236I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1236I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	p.R1241I(1)		126					AGAATGCTTTCTCTTGGCCAG	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000360774.1	1	0	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105705	0.56291	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.95	5.04	0.67666	.	0.385921	0.31438	N	0.007644	T	0.14830	0.0358	L	0.36672	1.1	0.18873	N	0.999988	P;P;P	0.38767	0.514;0.523;0.646	B;P;B	0.46419	0.151;0.516;0.29	T	0.14476	-1.0471	10	0.87932	D	0	.	5.425	0.16421	0.0:0.4599:0.3267:0.2134	.	1241;1236;1236	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	I	1241;1241;1236;1236;1241;904;904	ENSP00000354006:R1241I;ENSP00000407341:R1241I;ENSP00000396672:R1236I;ENSP00000354962:R1236I;ENSP00000366060:R1241I	ENSP00000309693:R904I	R	-	2	0	TRPM6	76567685	0.943000	0.32029	0.500000	0.27589	0.877000	0.50540	1.474000	0.35398	2.824000	0.97209	0.655000	0.94253	AGA		TCGA-IB-7651-01A-11D-2154-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	0	23	504	2	106		0	0	0	2	106	2		0	0	0	0	0	2	1	5.414233e-01	24	497	2	105	23								-4.472458	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.490000	0.320000	0.710000	0.500000	0.512547	0.490000	0	4.000000e-01	6.100000e-01
TRPM6	140803	broad.mit.edu	37	9	77416926	77416926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77416926C>T	ENST00000360774.1	-	16	2134	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000451710.3_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6			126					ACCGTGGCCTCCTCTCCATGC	0.502000																								0							SO:0001583	missense			ENST00000360774.1	1	1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456860	0.96223	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.28	5.28	0.74379	.	0.046451	0.85682	D	0.000000	D	0.89339	0.6687	M	0.90977	3.165	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75020	0.985;0.983;0.982	D	0.91646	0.5331	10	0.87932	D	0	.	18.9117	0.92489	0.0:1.0:0.0:0.0	.	296;633;628	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	K	633;633;628;628;633;296;296	ENSP00000354006:E633K;ENSP00000407341:E633K;ENSP00000396672:E628K;ENSP00000354962:E628K;ENSP00000366060:E633K	ENSP00000309693:E296K	E	-	1	0	TRPM6	76606746	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.963000	0.70372	2.462000	0.83206	0.585000	0.79938	GAG		TCGA-IB-7651-01A-11D-2154-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1	50	249	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1	49	241	0	46	2								-3.356407	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
TRPM6	140803	broad.mit.edu	37	9	77422987	77422987	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77422987A>C	ENST00000360774.1	-	14	1838	c.1601T>G	c.(1600-1602)tTc>tGc	p.F534C	TRPM6_ENST00000451710.3_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6			126					GAGGGCTCTGAAATGTTTTCT	0.368000																								0							SO:0001583	missense			ENST00000360774.1	1	1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483220	0.84747	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.04;-0.87;-0.87;-0.87	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.91034	0.4866	10	0.87932	D	0	.	16.084	0.81025	1.0:0.0:0.0:0.0	.	534;534;529	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	534;534;534;529;529;534;197;197	ENSP00000354006:F534C;ENSP00000407341:F534C;ENSP00000366068:F534C;ENSP00000396672:F529C;ENSP00000354962:F529C;ENSP00000366060:F534C	ENSP00000309693:F197C	F	-	2	0	TRPM6	76612807	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.339000	0.96797	2.202000	0.70862	0.482000	0.46254	TTC		TCGA-IB-7651-01A-11D-2154-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	0	44	426	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	43	419	0	112	2								-13.976600	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.790000	1.000000	1.000000	0.971019	0.990000	1	9.100000e-01	1
TRPM6	140803	broad.mit.edu	37	9	77427277	77427277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77427277C>A	ENST00000360774.1	-	12	1618	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6			126					ACTCCATATTCTATTAAGAGC	0.413000																								0							SO:0001587	stop_gained			ENST00000360774.1	0	1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	40	8.385365	0.98789	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.7	5.7	0.88788	.	0.044112	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8436	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	X	461;461;461;461;456;456;461;124;124	.	ENSP00000309693:E124X	E	-	1	0	TRPM6	76617097	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GAA		TCGA-IB-7651-01A-11D-2154-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1	80	339	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	77	335	0	80	2								-3.058860	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPM6	140803	broad.mit.edu	37	9	77431663	77431663	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77431663C>A	ENST00000360774.1	-	11	1467	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TRPM6_ENST00000451710.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6			126					GATTTAATTGCTCTGACGCTG	0.368000																								0							SO:0001583	missense			ENST00000360774.1	1	1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278271	0.05679	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.68	-1.39	0.08997	.	0.205802	0.52532	D	0.000073	T	0.24890	0.0604	N	0.02213	-0.635	0.35799	D	0.822992	B;B;B;B	0.12013	0.001;0.003;0.005;0.001	B;B;B;B	0.15484	0.002;0.002;0.013;0.008	T	0.30621	-0.9972	10	0.02654	T	1	.	0.3834	0.00398	0.1901:0.2448:0.2043:0.3608	.	410;410;410;405	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	D	410;410;410;410;405;405;410;73;73	ENSP00000354006:E410D;ENSP00000407341:E410D;ENSP00000366068:E410D;ENSP00000366067:E410D;ENSP00000396672:E405D;ENSP00000354962:E405D;ENSP00000366060:E410D	ENSP00000309693:E73D	E	-	3	2	TRPM6	76621483	0.992000	0.36948	1.000000	0.80357	0.813000	0.45954	0.289000	0.18957	0.127000	0.18452	-0.378000	0.06908	GAG		TCGA-IB-7651-01A-11D-2154-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	1	68	339	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1	67	335	0	74	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf41	138199	broad.mit.edu	37	9	77611376	77611376	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77611376A>C	ENST00000376834.3	-	6	1163	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41			17					GATTTATCCAAATTCCACCTG	0.308000																								0							SO:0001583	missense			ENST00000376834.3	0	1	hg19	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037682	0.54896	.	.	ENSG00000156017	ENST00000376834	T	0.03889	3.77	5.67	3.19	0.36642	N2227-like (1);	0.234938	0.42964	D	0.000638	T	0.12944	0.0314	M	0.62154	1.92	0.80722	D	1	D	0.59357	0.985	D	0.63877	0.919	T	0.01287	-1.1395	10	0.52906	T	0.07	-13.637	5.5966	0.17331	0.5278:0.0:0.0759:0.3963	.	337	Q8N4J0	CI041_HUMAN	M	337	ENSP00000366030:I337M	ENSP00000366030:I337M	I	-	3	3	C9orf41	76801196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.274000	0.33132	0.367000	0.24454	0.528000	0.53228	ATT		TCGA-IB-7651-01A-11D-2154-08	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	0	0	0	9	370	0	74	1	4.306039e-01	3	54	0	74	2		0	0	0	0	0	2	1	9.938488e-01	9	363	0	74	2								-9.254132	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.270000	0.130000	0.480000	0.270000	0.295219	0.270000	0	1.900000e-01	3.800000e-01
C9orf41	138199	broad.mit.edu	37	9	77613623	77613623	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77613623A>G	ENST00000376834.3	-	5	953	c.801T>C	c.(799-801)gcT>gcC	p.A267A	C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41			17					GAATCTGATCAGCTGATCTCC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000376834.3	1	1	hg19	CCDS6649.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	1	0	1	41	248	0	55	1	9.937485e-01	13	37	0	55	2		0	0	0	0	0	2	1	1	40	241	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999899	0.990000	1	9.900000e-01	1
PCSK5	5125	broad.mit.edu	37	9	78506218	78506218	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78506218G>A	ENST00000545128.1	+	1	659	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I|PCSK5_ENST00000376752.4_Missense_Mutation_p.V41I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5			55					CCACTGGGCAGTCAAAATCGC	0.637000																								0							SO:0001583	missense			ENST00000545128.1	1	1	hg19	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069113	0.93950	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.46819	0.86;0.86;0.86	5.17	5.17	0.71159	.	.	.	.	.	T	0.63414	0.2509	M	0.80332	2.49	0.50632	D	0.999883	P;B	0.49447	0.924;0.264	P;B	0.51266	0.664;0.17	T	0.70121	-0.4959	9	0.72032	D	0.01	.	17.4482	0.87584	0.0:0.0:1.0:0.0	.	41;41	Q92824-2;B1AMG5	.;.	I	41	ENSP00000446280:V41I;ENSP00000365958:V41I;ENSP00000365943:V41I	ENSP00000365943:V41I	V	+	1	0	PCSK5	77696038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.471000	0.66762	2.407000	0.81776	0.561000	0.74099	GTC		TCGA-IB-7651-01A-11D-2154-08	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	112	515	0	165	1	9.840882e-01	13	19	0	165	2		0	0	0	0	0	2	1	1	109	505	0	158	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK5	5125	broad.mit.edu	37	9	78771994	78771994	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78771994C>T	ENST00000545128.1	+	11	1884	c.1346C>T	c.(1345-1347)gCa>gTa	p.A449V	PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V|PCSK5_ENST00000376752.4_Missense_Mutation_p.A449V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5			55					CTGATGGACGCAGAAGCCATG	0.507000																								0							SO:0001583	missense			ENST00000545128.1	1	1	hg19	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	36	5.739395	0.96873	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94909	0.8063	10	0.87932	D	0	-17.4375	19.9458	0.97181	0.0:1.0:0.0:0.0	.	449;449	Q92824-2;B1AMG5	.;.	V	449;152;449;449;449;122	ENSP00000446280:A449V;ENSP00000365958:A449V;ENSP00000365943:A449V;ENSP00000411654:A122V	ENSP00000365943:A449V	A	+	2	0	PCSK5	77961814	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.474000	0.81024	2.720000	0.93068	0.591000	0.81541	GCA		TCGA-IB-7651-01A-11D-2154-08	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	111	415	0	119	1	9.999740e-01	18	41	0	119	2		0	0	0	0	0	2	1	1	108	410	0	119	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK5	5125	broad.mit.edu	37	9	78804038	78804038	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78804038C>T	ENST00000545128.1	+	19	2947	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	PCSK5_ENST00000376752.4_Silent_p.C803C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5			55					GCATTAACTGCACAGAGGGCT	0.458000																								0							SO:0001819	synonymous_variant			ENST00000545128.1	1	1	hg19	CCDS55320.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	61	257	0	72	1	9.999721e-01	25	43	0	72	2		0	0	0	0	0	2	1	1	60	255	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCSK5	5125	broad.mit.edu	37	9	78947380	78947380	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78947380C>A	ENST00000545128.1	+	33	5059	c.4521C>A	c.(4519-4521)ggC>ggA	p.G1507G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5			55					GCCCAGAGGGCTATTATGCCG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000545128.1	1	1	hg19	CCDS55320.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	30	177	0	54	1	1.634527e-01	4	1	0	54	2		0	0	0	0	0	2	1	1	30	173	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999602	0.990000	1	9.900000e-01	1
PCSK5	5125	broad.mit.edu	37	9	78973444	78973444	+	Missense_Mutation	SNP	G	G	A	rs141281372	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78973444G>A	ENST00000545128.1	+	37	5727	c.5189G>A	c.(5188-5190)cGa>cAa	p.R1730Q		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5			55					TGCATCCTTCGAACAAGCAAG	0.458000																								0							SO:0001583	missense			ENST00000545128.1	1	1	hg19	CCDS55320.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	G	8.128	0.782376	0.16189	0.005708	0.0	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.47177	0.85;1.7	5.88	-1.04	0.10068	.	1.053850	0.07439	N	0.896912	T	0.18882	0.0453	N	0.16307	0.4	0.09310	N	1	.	.	.	.	.	.	T	0.17561	-1.0365	8	0.11794	T	0.64	2.0E-4	5.9035	0.18980	0.3566:0.2857:0.3577:0.0	.	.	.	.	Q	1730;1460;1430	ENSP00000446280:R1730Q;ENSP00000411654:R1430Q	ENSP00000365945:R1460Q	R	+	2	0	PCSK5	78163264	0.000000	0.05858	0.005000	0.12908	0.100000	0.18952	0.025000	0.13577	-0.510000	0.06523	-0.266000	0.10368	CGA		TCGA-IB-7651-01A-11D-2154-08	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	48	188	0	50	1	5.774242e-01	3	6	0	50	2		0	0	0	0	0	2	1	1	48	184	0	50	2								-3.017764	1	1	116402	56	49	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RFK	55312	broad.mit.edu	37	9	79003496	79003496	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79003496C>T	ENST00000376736.1	-	3	644	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RFK_ENST00000479197.1_5'UTR	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase			3				Riboflavin(DB00140)	CTTTTCTGGTCTCAGGTAGCC	0.368000																								0							SO:0001583	missense			ENST00000376736.1	1	1	hg19	CCDS35044.2	.	.	.	.	.	.	.	.	.	.	C	34	5.302673	0.95601	.	.	ENSG00000135002	ENST00000376736;ENST00000257452;ENST00000490113	.	.	.	4.54	4.54	0.55810	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95531	0.8603	9	0.87932	D	0	-25.8219	17.6612	0.88193	0.0:1.0:0.0:0.0	.	111;104	B2RDZ2;Q969G6	.;RIFK_HUMAN	K	104;111;91	.	ENSP00000257452:R111K	R	-	2	0	RFK	78193316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.642000	0.83385	2.246000	0.74042	0.491000	0.48974	AGA		TCGA-IB-7651-01A-11D-2154-08	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052720.1	1	0	1	36	207	0	83	1	1	87	139	0	83	2		0	0	0	0	0	2	1	1	35	203	0	83	2								-18.195690	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999886	0.990000	1	9.900000e-01	1
GCNT1	2650	broad.mit.edu	37	9	79118164	79118164	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79118164C>T	ENST00000376730.4	+	4	1350	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000442371.1_Silent_p.F289F|GCNT1_ENST00000536223.1_Silent_p.F289F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	p.F289F(1)		30					GTGCCTACTTCGTGGTCAGTA	0.458000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000376730.4	1	1	hg19	CCDS6653.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	1	0	1	104	411	0	93	1	9.999983e-01	21	56	0	93	2		0	0	0	0	0	2	1	1	103	405	0	92	2								-3.278516	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79253164	79253164	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79253164G>A	ENST00000376718.3	-	13	8892	c.8769C>T	c.(8767-8769)gcC>gcT	p.A2923A	PRUNE2_ENST00000223609.6_Silent_p.A188A|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Silent_p.A2565A|PRUNE2_ENST00000443509.2_Silent_p.A172A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					GAAAACAGGCGGCAAACACAA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000376718.3	1	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	9.511	1.105719	0.20632	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.46	-7.36	0.01417	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	-15.8655	10.1297	0.42672	0.7359:0.0874:0.0893:0.0874	.	.	.	.	C	2248	.	.	R	-	1	0	PRUNE2	78442984	0.000000	0.05858	0.935000	0.37517	0.994000	0.84299	-2.106000	0.01338	-0.994000	0.03463	-0.266000	0.10368	CGC		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	24	137	0	55	0	7.961333e-01	1	18	0	55	2		0	0	0	0	0	2	1	9.999998e-01	24	137	0	55	2								-2.832209	1	1	120342	2	36	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999173	0.990000	1	9.900000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79319009	79319009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79319009C>T	ENST00000376718.3	-	9	7643	c.7520G>A	c.(7519-7521)aGc>aAc	p.S2507N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S2148N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					TATTTCCTTGCTGGCACCTAG	0.358000																								0							SO:0001583	missense			ENST00000376718.3	1	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278327	0.23307	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.45668	0.89;0.89	5.76	-2.51	0.06365	.	1.083170	0.06998	N	0.822869	T	0.32734	0.0839	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38200	-0.9672	10	0.48119	T	0.1	-0.0214	6.4439	0.21865	0.1272:0.3784:0.0:0.4944	.	2507	Q8WUY3	PRUN2_HUMAN	N	2507;2148;2506	ENSP00000365908:S2507N;ENSP00000397425:S2148N	ENSP00000365908:S2507N	S	-	2	0	PRUNE2	78508829	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	-0.479000	0.06567	-0.144000	0.11314	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	74	351	0	82	0	2.144177e-01	0	5	0	82	2		0	0	0	0	0	2	1	1	73	341	0	82	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79320449	79320449	+	Silent	SNP	G	G	A	rs41288769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320449G>A	ENST00000376718.3	-	8	6864	c.6741C>T	c.(6739-6741)gaC>gaT	p.D2247D	PRUNE2_ENST00000428286.1_Silent_p.D1888D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					TCCAAGAACCGTCACCTTCTG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000376718.3	1	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217713	0.06101	3.19E-4	5.58E-4	ENSG00000106772	ENST00000426088	.	.	.	5.83	-8.89	0.00785	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	-1.7271	4.4751	0.11731	0.5482:0.1679:0.1996:0.0843	rs41288769	.	.	.	W	1569	.	.	R	-	1	2	PRUNE2	78510269	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.800000	0.04555	-1.221000	0.02591	-0.345000	0.07892	CGG		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	39	178	0	40	0	3.403902e-02	0	2	0	40	2		0	0	0	0	0	2	1	1	39	173	0	40	2								-3.268301	1	1	120382	15	41	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79320790	79320790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320790G>A	ENST00000376718.3	-	8	6523	c.6400C>T	c.(6400-6402)Ctt>Ttt	p.L2134F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L1775F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					GTGAGACAAAGCTCACTGGAT	0.488000																								0							SO:0001583	missense			ENST00000376718.3	1	1	hg19	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.566|6.566	0.472728|0.472728	0.12461|0.12461	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.48836	.|0.81;0.8	5.88|5.88	0.462|0.462	0.16695|0.16695	.|.	.|1.215700	.|0.05871	.|N	.|0.624565	T|T	0.27765|0.27765	0.0683|0.0683	N|N	0.16903|0.16903	0.455|0.455	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.16719|0.16719	-1.0393|-1.0393	5|10	.|0.34782	.|T	.|0.22	0.4604|0.4604	1.4907|1.4907	0.02456|0.02456	0.2165:0.1181:0.3431:0.3223|0.2165:0.1181:0.3431:0.3223	.|.	.|2134	.|Q8WUY3	.|PRUN2_HUMAN	V|F	1455|2134;1775;2133	.|ENSP00000365908:L2134F;ENSP00000397425:L1775F	.|ENSP00000365908:L2134F	A|L	-|-	2|1	0|0	PRUNE2|PRUNE2	78510610|78510610	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.151000|0.151000	0.21798|0.21798	-0.644000|-0.644000	0.05415|0.05415	-0.156000|-0.156000	0.11079|0.11079	0.655000|0.655000	0.94253|0.94253	GCT|CTT		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	108	502	0	124	0	3.175234e-02	0	2	0	124	2		0	0	0	0	0	2	1	1	107	495	0	124	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79321848	79321848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79321848G>A	ENST00000376718.3	-	8	5465	c.5342C>T	c.(5341-5343)gCa>gTa	p.A1781V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1422V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CTTCTCCACTGCTGTAATCTG	0.438000																								0							SO:0001583	missense			ENST00000376718.3	1	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.963	-0.702586	0.03255	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.43688	0.94;0.94	5.36	1.23	0.21249	.	1.275240	0.05360	N	0.533570	T	0.20780	0.0500	N	0.12182	0.205	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.22208	-1.0223	10	0.06757	T	0.87	-2.6408	4.4469	0.11602	0.2117:0.0:0.4988:0.2895	.	1781	Q8WUY3	PRUN2_HUMAN	V	1781;1422;1780	ENSP00000365908:A1781V;ENSP00000397425:A1422V	ENSP00000365908:A1781V	A	-	2	0	PRUNE2	78511668	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.252000	0.08806	0.736000	0.32559	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	27	118	0	44	0	1.684797e-01	0	4	0	44	2		0	0	0	0	0	2	1	1	24	115	0	44	2								-17.545530	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79322428	79322428	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79322428T>C	ENST00000376718.3	-	8	4885	c.4762A>G	c.(4762-4764)Acc>Gcc	p.T1588A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1229A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CCATCAGTGGTAATTAGTTCA	0.408000																								0							SO:0001583	missense			ENST00000376718.3	1	1	hg19	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.68|10.68	1.419074|1.419074	0.25552|0.25552	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.44482|.	0.92;0.92|.	5.91|5.91	-1.37|-1.37	0.09056|0.09056	.|.	0.794342|.	0.11320|.	N|.	0.576108|.	T|T	0.36853|0.36853	0.0982|0.0982	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B|.	0.26120|.	0.142|.	B|.	0.20184|.	0.028|.	T|T	0.37174|0.37174	-0.9717|-0.9717	10|5	0.66056|.	D|.	0.02|.	-1.2138|-1.2138	2.5599|2.5599	0.04769|0.04769	0.3516:0.0676:0.1234:0.4574|0.3516:0.0676:0.1234:0.4574	.|.	1588|.	Q8WUY3|.	PRUN2_HUMAN|.	A|C	1588;1229;1587|909	ENSP00000365908:T1588A;ENSP00000397425:T1229A|.	ENSP00000365908:T1588A|.	T|Y	-|-	1|2	0|0	PRUNE2|PRUNE2	78512248|78512248	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.860000|0.860000	0.49131|0.49131	-0.367000|-0.367000	0.07553|0.07553	0.123000|0.123000	0.18342|0.18342	-0.333000|-0.333000	0.08304|0.08304	ACC|TAC		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	0	10	230	0	59	0	2.244669e-03	0	2	0	59	2		0	0	0	0	0	2	1	9.969940e-01	10	229	0	59	2								-12.492210	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.480000	0.250000	0.810000	0.470000	0.506419	0.480000	0	3.500000e-01	6.500000e-01
PRUNE2	158471	broad.mit.edu	37	9	79323618	79323618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79323618G>A	ENST00000376718.3	-	8	3695	c.3572C>T	c.(3571-3573)gCc>gTc	p.A1191V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A832V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CTCATCAGAGGCAGGGAGCTC	0.498000																								0							SO:0001583	missense			ENST00000376718.3	1	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	3.673	-0.067125	0.07273	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.51574	0.7;0.71	6.08	0.994	0.19832	.	1.282690	0.05135	N	0.493283	T	0.35189	0.0923	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.31971	-0.9924	10	0.59425	D	0.04	-0.1287	5.8732	0.18814	0.3438:0.0:0.537:0.1192	.	1191	Q8WUY3	PRUN2_HUMAN	V	1191;832;1190	ENSP00000365908:A1191V;ENSP00000397425:A832V	ENSP00000365908:A1191V	A	-	2	0	PRUNE2	78513438	0.003000	0.15002	0.009000	0.14445	0.031000	0.12232	0.395000	0.20850	0.142000	0.18901	-0.150000	0.13652	GCC		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	66	308	0	74	0	0	0	1	0	74	2		0	0	0	0	0	2	1	1	65	298	0	71	2								-20.000000	1	1	120438	17	42	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79325119	79325119	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79325119G>T	ENST00000376718.3	-	8	2194	c.2071C>A	c.(2071-2073)Cca>Aca	p.P691T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P332T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					ATGGAGCTTGGCTTATGCTCT	0.453000																								0							SO:0001583	missense			ENST00000376718.3	1	1	hg19	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.007|0.007	-2.011002|-2.011002	0.00422|0.00422	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.21361	.|2.01;2.01	5.86|5.86	1.57|1.57	0.23409|0.23409	.|.	.|0.269957	.|0.26867	.|N	.|0.022094	T|T	0.10981|0.10981	0.0268|0.0268	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.18967|0.18967	-1.0320|-1.0320	5|10	.|0.29301	.|T	.|0.29	-4.4713|-4.4713	1.4712|1.4712	0.02416|0.02416	0.1602:0.3388:0.2185:0.2825|0.1602:0.3388:0.2185:0.2825	.|.	.|691	.|Q8WUY3	.|PRUN2_HUMAN	D|T	12|691;332;690	.|ENSP00000365908:P691T;ENSP00000397425:P332T	.|ENSP00000365908:P691T	A|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78514939|78514939	0.715000|0.715000	0.27946|0.27946	0.757000|0.757000	0.31301|0.31301	0.159000|0.159000	0.22180|0.22180	-0.008000|-0.008000	0.12788|0.12788	0.313000|0.313000	0.23062|0.23062	-1.251000|-1.251000	0.01509|0.01509	GCC|CCA		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	28	114	0	32	0	1.073059e-01	0	3	0	32	2		0	0	0	0	0	2	1	1	27	109	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
PRUNE2	158471	broad.mit.edu	37	9	79438601	79438601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79438601G>T	ENST00000376718.3	-	6	826	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M|PRUNE2_ENST00000428286.1_De_novo_Start_InFrame	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					CCATCTGACAGCTCCTTTAGA	0.348000																								0							SO:0001583	missense			ENST00000376718.3	1	0	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009893	0.35415	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.49139	0.79	5.58	3.77	0.43336	DHHA2 (1);	0.195283	0.35555	N	0.003133	T	0.58481	0.2125	L	0.61218	1.895	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.81914	0.995;0.867	T	0.59005	-0.7535	10	0.72032	D	0.01	.	3.3472	0.07140	0.1412:0.1347:0.5853:0.1388	.	235;235	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	M	235;234;235	ENSP00000365908:L235M	ENSP00000365903:L235M	L	-	1	2	PRUNE2	78628421	1.000000	0.71417	0.991000	0.47740	0.455000	0.32408	1.101000	0.31037	0.743000	0.32719	-1.008000	0.02478	CTG		TCGA-IB-7651-01A-11D-2154-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1	81	351	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	1	80	347	0	94	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXB2	442425	broad.mit.edu	37	9	79634658	79634658	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634658G>A	ENST00000376708.1	+	1	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2			10					CCAGCACTCGGCCGAGAAGAT	0.627000																								0							SO:0001583	missense			ENST00000376708.1	1	1	hg19	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629544	0.46944	.	.	ENSG00000204612	ENST00000376708	D	0.95447	-3.71	4.41	4.41	0.53225	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.367704	0.27302	N	0.019985	D	0.91838	0.7417	N	0.11818	0.18	0.37583	D	0.919881	P	0.52170	0.951	P	0.49999	0.628	D	0.93456	0.6806	10	0.52906	T	0.07	.	12.8307	0.57744	0.0:0.1646:0.8354:0.0	.	30	Q5VYV0	FOXB2_HUMAN	T	30	ENSP00000365898:A30T	ENSP00000365898:A30T	A	+	1	0	FOXB2	78824478	0.000000	0.05858	0.990000	0.47175	0.780000	0.44128	-0.169000	0.09911	2.177000	0.69029	0.561000	0.74099	GCC		TCGA-IB-7651-01A-11D-2154-08	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	1	0	1	30	145	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	1	30	143	0	40	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999939	0.990000	1	9.900000e-01	1
FOXB2	442425	broad.mit.edu	37	9	79634736	79634736	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634736C>T	ENST00000376708.1	+	1	166	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2			10					GCACACACAGCGCTGGCAGAA	0.607000																								0							SO:0001583	missense			ENST00000376708.1	1	1	hg19	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842987	0.51057	.	.	ENSG00000204612	ENST00000376708	D	0.95588	-3.75	4.3	4.3	0.51218	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98304	1.0520	10	0.87932	D	0	.	11.926	0.52819	0.1742:0.8258:0.0:0.0	.	56	Q5VYV0	FOXB2_HUMAN	C	56	ENSP00000365898:R56C	ENSP00000365898:R56C	R	+	1	0	FOXB2	78824556	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.316000	0.33620	2.104000	0.64026	0.561000	0.74099	CGC		TCGA-IB-7651-01A-11D-2154-08	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	1	0	1	52	250	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	50	243	0	80	2								-20.000000	1	0	121410	2	38	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FOXB2	442425	broad.mit.edu	37	9	79635075	79635075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79635075C>T	ENST00000376708.1	+	1	505	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2			10					gccgccgccgccgcccccgcc	0.701000																								0							SO:0001583	missense			ENST00000376708.1	0	1	hg19	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	8.575	0.881054	0.17467	.	.	ENSG00000204612	ENST00000376708	T	0.47869	0.83	3.04	3.04	0.35103	.	1.888570	0.02789	N	0.121804	T	0.29749	0.0743	N	0.08118	0	0.35303	D	0.78321	.	.	.	.	.	.	T	0.25606	-1.0127	8	0.06365	T	0.9	.	11.8789	0.52562	0.0:1.0:0.0:0.0	.	169	Q5VYV0	FOXB2_HUMAN	S	169	ENSP00000365898:P169S	ENSP00000365898:P169S	P	+	1	0	FOXB2	78824895	0.000000	0.05858	0.983000	0.44433	0.875000	0.50365	-0.005000	0.12855	1.417000	0.47077	0.313000	0.20887	CCG		TCGA-IB-7651-01A-11D-2154-08	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	1	0	0	17	82	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.999821e-01	17	83	0	8	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.998732	0.990000	1	9.900000e-01	1
VPS13A	23230	broad.mit.edu	37	9	79841408	79841408	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79841408C>T	ENST00000360280.3	+	15	1511	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000357409.5_Silent_p.Y417Y|VPS13A_ENST00000376636.3_Silent_p.Y417Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					ACAAAATTTACAAAGAAGGAG	0.318000																								0							SO:0001819	synonymous_variant			ENST00000360280.3	1	1	hg19	CCDS6655.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1	42	229	0	56	1	6.648107e-01	3	11	0	56	2		0	0	0	0	0	2	1	1	42	226	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	9.900000e-01	1
VPS13A	23230	broad.mit.edu	37	9	79867222	79867222	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79867222T>G	ENST00000360280.3	+	22	2502	c.2242T>G	c.(2242-2244)Ttg>Gtg	p.L748V	VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V|VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					GCACTTCAATTTGGAACTGTC	0.373000																								0							SO:0001583	missense			ENST00000360280.3	1	1	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	1.599	-0.527033	0.04141	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.46	2.52	0.30459	.	0.372540	0.24647	N	0.036745	T	0.09686	0.0238	N	0.00760	-1.21	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.06607	-1.0817	10	0.28530	T	0.3	.	3.2004	0.06647	0.2078:0.1156:0.5499:0.1267	.	748;748;748;748	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	748	ENSP00000365821:L748V;ENSP00000365823:L748V;ENSP00000353422:L748V;ENSP00000349985:L748V	ENSP00000349985:L748V	L	+	1	2	VPS13A	79057042	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	1.953000	0.40352	0.625000	0.30304	-0.396000	0.06452	TTG		TCGA-IB-7651-01A-11D-2154-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1	139	571	0	145	1	7.545720e-01	3	10	0	145	2		0	0	0	0	0	2	1	1	138	561	0	142	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS13A	23230	broad.mit.edu	37	9	79908284	79908284	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79908284T>C	ENST00000360280.3	+	32	3627	c.3367T>C	c.(3367-3369)Ttc>Ctc	p.F1123L	VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					AAAAGAAGTTTTCAGCTTCAA	0.303000																								0							SO:0001583	missense			ENST00000360280.3	1	1	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656337	0.88056	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.40476	1.19;1.03;1.1;1.19	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.63843	1.955	0.80722	D	1	P;D;D;D	0.89917	0.924;0.998;1.0;1.0	P;D;D;D	0.91635	0.635;0.99;0.999;0.999	T	0.55062	-0.8199	10	0.15499	T	0.54	.	15.4213	0.75015	0.0:0.0:0.0:1.0	.	1084;1123;1123;1123	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	1123;1084;1123;1123	ENSP00000365821:F1123L;ENSP00000365823:F1084L;ENSP00000353422:F1123L;ENSP00000349985:F1123L	ENSP00000349985:F1123L	F	+	1	0	VPS13A	79098104	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.553000	0.82203	2.064000	0.61679	0.397000	0.26171	TTC		TCGA-IB-7651-01A-11D-2154-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1	80	276	0	78	1	9.335863e-01	8	10	0	78	2		0	0	0	0	0	2	1	1	77	272	0	78	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VPS13A	23230	broad.mit.edu	37	9	79930362	79930362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79930362C>T	ENST00000360280.3	+	38	4866	c.4606C>T	c.(4606-4608)Caa>Taa	p.Q1536*	VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					AACCAGTGTGCAAACATGGAC	0.373000																								0							SO:0001587	stop_gained			ENST00000360280.3	0	1	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	45	11.782466	0.99602	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.66	5.66	0.87406	.	0.637723	0.15298	N	0.269795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.7566	0.96296	0.0:1.0:0.0:0.0	.	.	.	.	X	1536;1497;1536;1536	.	ENSP00000349985:Q1536X	Q	+	1	0	VPS13A	79120182	1.000000	0.71417	0.974000	0.42286	0.939000	0.58152	4.827000	0.62723	2.671000	0.90904	0.563000	0.77884	CAA		TCGA-IB-7651-01A-11D-2154-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	0	0	7	299	1	70	0	2.299627e-02	0	22	1	70	3		0	0	0	0	0	2	0	5.586515e-02	7	292	1	70	15								-7.616865	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.270000	0.120000	0.500000	0.260000	0.291060	0.270000	0	1.800000e-01	3.900000e-01
VPS13A	23230	broad.mit.edu	37	9	79933430	79933430	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79933430C>T	ENST00000360280.3	+	41	5496	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000357409.5_Silent_p.L1746L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Silent_p.L1707L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					ACCTATGCTTCTGGCAAAGTC	0.378000																								0							SO:0001819	synonymous_variant			ENST00000360280.3	1	1	hg19	CCDS6655.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	0	35	411	0	86	1	8.303473e-01	4	36	0	86	2		0	0	0	0	0	2	1	1	35	403	0	85	2								-9.945030	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.890000	0.630000	1.000000	1.000000	0.882266	0.890000	1	7.500000e-01	1
VPS13A	23230	broad.mit.edu	37	9	79934591	79934591	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79934591T>C	ENST00000360280.3	+	42	5675		c.e42+2		VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site|VPS13A_ENST00000376636.3_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					GGTATCAAGGtatatctatat	0.289000																								0							SO:0001630	splice_region_variant			ENST00000360280.3	0	1	hg19	CCDS6655.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1	21	90	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.999985e-01	20	88	0	11	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999761	0.990000	1	9.900000e-01	1
VPS13A	23230	broad.mit.edu	37	9	79968343	79968343	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79968343G>T	ENST00000360280.3	+	54	7698	c.7438G>T	c.(7438-7440)Gat>Tat	p.D2480Y	VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					GATGCCTATAGATTTGGGGGA	0.279000																								0							SO:0001583	missense			ENST00000360280.3	1	1	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	6.348	0.432306	0.12045	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.48836	0.96;0.8;0.87;0.96	5.22	-0.24	0.13047	.	0.697544	0.14185	N	0.335709	T	0.28234	0.0697	N	0.24115	0.695	0.26116	N	0.980619	B;B;B;B	0.11235	0.001;0.004;0.001;0.0	B;B;B;B	0.16722	0.016;0.003;0.007;0.007	T	0.15350	-1.0440	10	0.33141	T	0.24	.	5.5173	0.16914	0.3879:0.2722:0.3399:0.0	.	2441;2480;2480;2480	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	2480;2441;2480;2480	ENSP00000365821:D2480Y;ENSP00000365823:D2441Y;ENSP00000353422:D2480Y;ENSP00000349985:D2480Y	ENSP00000349985:D2480Y	D	+	1	0	VPS13A	79158163	0.780000	0.28664	0.317000	0.25265	0.604000	0.37047	1.524000	0.35942	-0.303000	0.08856	-0.274000	0.10170	GAT		TCGA-IB-7651-01A-11D-2154-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1	30	227	0	55	1	6.985946e-01	4	16	0	55	2		0	0	0	0	0	2	1	1	30	219	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.910000	1.000000	1.000000	0.995248	0.990000	1	9.900000e-01	1
VPS13A	23230	broad.mit.edu	37	9	79985233	79985233	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79985233G>T	ENST00000360280.3	+	64	8988	c.8728G>T	c.(8728-8730)Gtt>Ttt	p.V2910F	VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					TAAGGCACTAGTTGGTGGAGC	0.393000																								0							SO:0001583	missense			ENST00000360280.3	1	1	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	9.673	1.147356	0.21288	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.54071	0.77;0.59;0.68;0.75	5.59	4.68	0.58851	.	0.057766	0.64402	D	0.000001	T	0.57272	0.2042	N	0.20530	0.585	0.80722	D	1	B;D;D;D	0.89917	0.189;1.0;0.999;1.0	B;D;D;D	0.97110	0.076;0.999;0.99;1.0	T	0.56402	-0.7985	9	.	.	.	.	14.8084	0.69974	0.0:0.2734:0.7266:0.0	.	2871;2910;2910;2910	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	2910;2871;2910;2910	ENSP00000365821:V2910F;ENSP00000365823:V2871F;ENSP00000353422:V2910F;ENSP00000349985:V2910F	.	V	+	1	0	VPS13A	79175053	1.000000	0.71417	0.932000	0.37286	0.994000	0.84299	3.027000	0.49697	1.329000	0.45376	0.467000	0.42956	GTT		TCGA-IB-7651-01A-11D-2154-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	1	0	1	61	242	0	51	1	9.999175e-01	14	44	0	51	2		0	0	0	0	0	2	1	1	60	238	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GNAQ	2776	broad.mit.edu	37	9	80412494	80412494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80412494G>A	ENST00000286548.4	-	4	769	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	p.R183*(1)		302					GTGGGGACTCGAACTCTAAGC	0.468000			Mis		uveal melanoma										Dom	yes		9	9q21	2776	guanine nucleotide binding protein (G protein), q polypeptide		E	1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000286548.4	0	1	hg19	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	G	38	6.792681	0.97841	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	.	.	.	X	183;154	.	ENSP00000286548:R183X	R	-	1	2	GNAQ	79602314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.582000	0.74049	2.778000	0.95560	0.655000	0.94253	CGA		TCGA-IB-7651-01A-11D-2154-08	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	1	0	1	85	168	0	83	1	1	6	94	0	83	2		0	0	0	0	0	2	1	1	85	167	0	83	2								-9.922847	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CEP78	84131	broad.mit.edu	37	9	80866840	80866840	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866840A>G	ENST00000424347.2	+	9	1375	c.1086A>G	c.(1084-1086)aaA>aaG	p.K362K	CEP78_ENST00000277082.5_Silent_p.K362K|CEP78_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K|CEP78_ENST00000376597.4_Silent_p.K363K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa			21					CTACAAAGAAACCTGTAAGTA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000424347.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	1	0	1	12	64	0	16	1	7.970918e-01	2	16	0	16	2		0	0	0	0	0	2	1	9.993814e-01	12	64	0	16	2								-19.975180	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.880000	1.000000	1.000000	0.993428	0.990000	1	9.900000e-01	1
CEP78	84131	broad.mit.edu	37	9	80866940	80866940	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866940G>A	ENST00000424347.2	+	9	1475	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	CEP78_ENST00000277082.5_Missense_Mutation_p.E396K|CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa			21					GCGTACTGCAGAACGTGCAAA	0.413000																								0							SO:0001583	missense			ENST00000424347.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.76	3.692335	0.68271	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.28666	1.61;1.8;1.6;1.61;1.6	5.51	3.57	0.40892	.	0.299706	0.31246	N	0.007995	T	0.45478	0.1344	M	0.69823	2.125	0.30262	N	0.793045	D;P;D	0.62365	0.991;0.801;0.967	P;B;P	0.53760	0.734;0.314;0.614	T	0.52328	-0.8590	10	0.41790	T	0.15	-8.1064	14.7238	0.69329	0.0:0.276:0.724:0.0	.	397;397;396	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	K	396;396;397;397;396;396	ENSP00000411284:E396K;ENSP00000399286:E397K;ENSP00000365782:E397K;ENSP00000277082:E396K;ENSP00000365783:E396K	ENSP00000277082:E396K	E	+	1	0	CEP78	80056760	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.034000	0.49751	0.622000	0.30249	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	1	0	1	15	64	0	22	1	9.908111e-01	5	32	0	22	2		0	0	0	0	0	2	1	9.999197e-01	15	63	0	22	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.998748	0.990000	1	9.900000e-01	1
TLE4	7091	broad.mit.edu	37	9	82267698	82267698	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82267698A>G	ENST00000376552.2	+	7	1599	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TLE4_ENST00000376537.4_Missense_Mutation_p.D194G|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000376544.3_Missense_Mutation_p.D194G|TLE4_ENST00000376520.4_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4			39					CATGACAATGATCACCAAAGA	0.483000																								0							SO:0001583	missense			ENST00000376552.2	1	1	hg19	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432175	0.62844	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.49139	0.82;0.84;0.91;0.79;0.91;0.93;0.79;1.47;1.88	6.04	6.04	0.98038	.	0.254009	0.42420	D	0.000719	T	0.50394	0.1613	L	0.45137	1.4	0.80722	D	1	B;B;P;B	0.38250	0.001;0.122;0.624;0.145	B;B;P;B	0.44772	0.005;0.06;0.46;0.187	T	0.46952	-0.9154	10	0.44086	T	0.13	-21.7834	16.5885	0.84745	1.0:0.0:0.0:0.0	.	169;194;194;194	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	G	194;194;194;208;208;194;169;192;179;64	ENSP00000365735:D194G;ENSP00000365727:D194G;ENSP00000365703:D194G;ENSP00000415423:D208G;ENSP00000365720:D194G;ENSP00000265284:D169G;ENSP00000412567:D192G;ENSP00000409313:D179G;ENSP00000417844:D64G	ENSP00000265284:D169G	D	+	2	0	TLE4	81457518	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.672000	0.91181	2.317000	0.78254	0.460000	0.39030	GAT		TCGA-IB-7651-01A-11D-2154-08	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	1	0	1	62	286	0	109	1	9.985708e-01	10	38	0	109	2	1	1	99	364	0	419	2	1	1	62	282	0	106	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLE4	7091	broad.mit.edu	37	9	82319707	82319707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82319707G>T	ENST00000376552.2	+	9	1637	c.619G>T	c.(619-621)Gta>Tta	p.V207L	TLE4_ENST00000376537.4_Missense_Mutation_p.V207L|TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4			39					GAGCTCTTCAGTATCCCCATC	0.413000																								0							SO:0001583	missense			ENST00000376552.2	0	1	hg19	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805586|3.805586	0.70682|0.70682	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376544;ENST00000376520|ENST00000376552;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142	.|T;T;T;T;T;T	.|0.43294	.|0.95;1.06;1.05;1.59;1.99;1.31	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26304	.|0.0642	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.08055	.|0.001;0.003;0.001;0.001	.|T	.|0.19289	.|-1.0310	.|9	.|0.02654	.|T	.|1	.|2.9876	20.3206|20.3206	0.98668|0.98668	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182;207;207;207	.|F8W6T6;Q04727-2;Q04727-3;Q04727	.|.;.;.;TLE4_HUMAN	.|L	-1|207;207;182;192;77;4	.|ENSP00000365735:V207L;ENSP00000365720:V207L;ENSP00000265284:V182L;ENSP00000409313:V192L;ENSP00000417844:V77L;ENSP00000418409:V4L	.|ENSP00000265284:V182L	.|V	+|+	.|1	.|0	TLE4|TLE4	81509527|81509527	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.975000|0.975000	0.68041|0.68041	7.953000|7.953000	0.87836|0.87836	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	.|GTA		TCGA-IB-7651-01A-11D-2154-08	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	0	0	1	199	847	0	228	1	9.996001e-01	7	43	0	228	2	1	1	141	640	0	693	2	1	1	194	825	0	225	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLE4	7091	broad.mit.edu	37	9	82335058	82335058	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82335058C>T	ENST00000376552.2	+	16	2706	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	TLE4_ENST00000376537.4_Missense_Mutation_p.A595V|TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000376520.4_Missense_Mutation_p.A595V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4			39					TGGGACCTGGCGGCTCCAACC	0.582000																								0							SO:0001583	missense			ENST00000376552.2	1	1	hg19	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636386	0.87760	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	L	0.35723	1.085	0.80722	D	1	D;D;D;D	0.89917	0.998;0.993;0.98;1.0	P;B;B;P	0.52454	0.699;0.229;0.347;0.691	T	0.00128	-1.2018	10	0.66056	D	0.02	-18.4705	19.8557	0.96758	0.0:1.0:0.0:0.0	.	538;494;595;563	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	563;494;595;595;200;538	ENSP00000365735:A563V;ENSP00000365727:A494V;ENSP00000365703:A595V;ENSP00000365720:A595V;ENSP00000365717:A200V;ENSP00000265284:A538V	ENSP00000265284:A538V	A	+	2	0	TLE4	81524878	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.818000	0.86416	2.688000	0.91661	0.591000	0.81541	GCG		TCGA-IB-7651-01A-11D-2154-08	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	1	0	1	53	221	0	50	1	9.996182e-01	9	43	0	50	2	1	1	130	574	0	592	2	1	1	52	217	0	49	2								-3.200332	1	1	121412	10	39	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLE4	7091	broad.mit.edu	37	9	82336698	82336698	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82336698T>C	ENST00000376552.2	+	17	2899	c.1881T>C	c.(1879-1881)atT>atC	p.I627I	TLE4_ENST00000376537.4_Silent_p.I659I|TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000376520.4_Silent_p.I659I|TLE4_ENST00000376534.4_Silent_p.I264I	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4			39					GTATTGACATTTCTAATGATG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000376552.2	1	1	hg19	CCDS43837.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	0	0	0	9	335	0	61	0	2.890587e-01	0	37	0	61	2	1	9.999815e-01	27	884	0	795	2	1	9.940626e-01	9	331	0	61	2								-9.607969	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.300000	0.150000	0.530000	0.300000	0.324564	0.300000	0	2.100000e-01	4.200000e-01
PTPRD	5789	broad.mit.edu	37	9	8340450	8340450	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8340450C>T	ENST00000381196.4	-	39	5689	c.5146G>A	c.(5146-5148)Gct>Act	p.A1716T	PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D			168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)			CCCTGGGTAGCGATGTAGGCT	0.443000										TSP Lung(15;0.13)														0							SO:0001583	missense			ENST00000381196.4	1	1	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855189	0.91355	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.98	5.98	0.97165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.986;0.986;0.986;0.986;0.98;0.977;0.994;0.999;0.928	D	0.96522	0.9386	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	1309;1300;1309;1310;1306;1306;1703;1716;1716	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1716;1716;1703;1694;1310;1309;1306;1306;1187;1716;1309;1309	ENSP00000370593:A1716T;ENSP00000348812:A1716T;ENSP00000353187:A1703T;ENSP00000351293:A1694T;ENSP00000347373:A1310T;ENSP00000380741:A1309T;ENSP00000380735:A1306T;ENSP00000440515:A1306T;ENSP00000438164:A1716T;ENSP00000417093:A1309T;ENSP00000380731:A1309T	.	A	-	1	0	PTPRD	8330450	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GCT		TCGA-IB-7651-01A-11D-2154-08	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1	24	198	0	53	0	3.560893e-02	0	3	0	53	2		0	0	0	0	0	2	1	9.999997e-01	24	191	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.800000	1.000000	1.000000	0.983522	0.990000	1	9.900000e-01	1
PTPRD	5789	broad.mit.edu	37	9	8376626	8376626	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8376626C>T	ENST00000381196.4	-	35	5030	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q	PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D			168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)			TGCAAATGTTCGAACACAATA	0.418000										TSP Lung(15;0.13)														0							SO:0001583	missense			ENST00000381196.4	1	1	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200664	0.79015	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.115754	0.56097	D	0.000037	T	0.76321	0.3971	H	0.97896	4.1	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.91635	0.974;0.974;0.974;0.974;0.991;0.88;0.995;0.934;0.999	D	0.85504	0.1193	9	.	.	.	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	1089;1080;1089;1090;1086;1086;1483;1496;1496	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1496;1496;1483;1474;1090;1089;1086;1086;967;1496;1089;1089	ENSP00000370593:R1496Q;ENSP00000348812:R1496Q;ENSP00000353187:R1483Q;ENSP00000351293:R1474Q;ENSP00000347373:R1090Q;ENSP00000380741:R1089Q;ENSP00000380735:R1086Q;ENSP00000440515:R1086Q;ENSP00000438164:R1496Q;ENSP00000417093:R1089Q;ENSP00000380731:R1089Q	.	R	-	2	0	PTPRD	8366626	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.419000	0.80179	2.633000	0.89246	0.591000	0.81541	CGA		TCGA-IB-7651-01A-11D-2154-08	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1	56	231	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	1	55	226	0	69	2								-20.000000	1	1	121410	1	28	1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLE1	7088	broad.mit.edu	37	9	84205779	84205779	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84205779G>T	ENST00000376499.3	-	16	2834	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)			29					TGCAGCATGAGAAGCAGACCT	0.617000													NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)											0							SO:0001583	missense			ENST00000376499.3	1	1	hg19	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	g	32	5.149377	0.94645	.	.	ENSG00000196781	ENST00000376499	T	0.58060	0.36	5.96	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.043738	0.85682	D	0.000000	T	0.65688	0.2715	L	0.49571	1.57	0.80722	D	1	P;D;P	0.62365	0.887;0.991;0.624	P;D;P	0.70716	0.634;0.97;0.537	T	0.66830	-0.5824	10	0.87932	D	0	-24.4386	13.694	0.62567	0.1244:0.0:0.8756:0.0	.	575;616;590	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	L	590	ENSP00000365682:F590L	ENSP00000365682:F590L	F	-	3	2	TLE1	83395599	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.394000	0.52551	2.832000	0.97577	0.655000	0.94253	TTC		TCGA-IB-7651-01A-11D-2154-08	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	1	0	1	98	420	0	100	1	9.999815e-01	14	55	0	100	2	1	1	164	986	0	982	2	1	1	96	418	0	99	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLE1	7088	broad.mit.edu	37	9	84228383	84228383	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84228383G>A	ENST00000376499.3	-	12	2036	c.972C>T	c.(970-972)agC>agT	p.S324S	TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)			29					TTGGCATGTCGCTCCGAGGCG	0.537000													NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)											0							SO:0001819	synonymous_variant			ENST00000376499.3	1	1	hg19	CCDS6661.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	1	0	1	93	472	0	81	1	9.998813e-01	14	54	0	81	2		0	0	0	0	0	2	1	1	92	463	0	80	2								-20.000000	1	1	121412	2	33	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMRT1	1761	broad.mit.edu	37	9	847106	847106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:847106G>T	ENST00000382276.3	+	2	650	c.501G>T	c.(499-501)caG>caT	p.Q167H	DMRT1_ENST00000569227.1_Missense_Mutation_p.Q9H	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1			13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)			GCACCTCTCAGCCACCGCCGG	0.627000																								0							SO:0001583	missense			ENST00000382276.3	1	1	hg19	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908389	0.33721	.	.	ENSG00000137090	ENST00000382276	T	0.18810	2.19	4.8	3.9	0.45041	.	1.441650	0.04171	N	0.324722	T	0.33760	0.0874	L	0.45285	1.41	0.30040	N	0.812651	D;B	0.61697	0.99;0.006	P;B	0.59288	0.855;0.016	T	0.05599	-1.0875	10	0.42905	T	0.14	.	5.3827	0.16199	0.1814:0.1671:0.6516:0.0	.	167;167	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	H	167	ENSP00000371711:Q167H	ENSP00000371711:Q167H	Q	+	3	2	DMRT1	837106	0.999000	0.42202	0.786000	0.31890	0.451000	0.32288	0.949000	0.29109	1.025000	0.39708	0.655000	0.94253	CAG		TCGA-IB-7651-01A-11D-2154-08	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	1	0	1	29	220	0	53	0	0	1	0	0	53	2		0	0	0	0	0	2	1	1	28	213	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.900000	1.000000	1.000000	0.994131	0.990000	1	9.900000e-01	1
RASEF	158158	broad.mit.edu	37	9	85637250	85637250	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85637250C>T	ENST00000376447.3	-	3	930		c.e3+1			NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing			33					CAGAAACTCACGTCTTTCCGT	0.502000																								0							SO:0001630	splice_region_variant			ENST00000376447.3	1	1	hg19	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246870	0.80024	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.88	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0808	0.72113	0.0:0.9322:0.0:0.0678	.	.	.	.	.	-1	.	.	.	-	.	.	RASEF	84827070	1.000000	0.71417	0.886000	0.34754	0.932000	0.56968	5.111000	0.64628	1.497000	0.48584	0.655000	0.94253	.		TCGA-IB-7651-01A-11D-2154-08	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	1	0	1	88	435	0	90	0	0	0	1	0	90	2		0	0	0	0	0	2	1	1	86	419	0	90	2								-20.000000	1	1	121412	2	36	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMD3	257019	broad.mit.edu	37	9	85862972	85862972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85862972G>A	ENST00000304195.3	-	14	1861	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3			30					ATCAATACCTGACTCCAAAAG	0.517000																								0							SO:0001583	missense			ENST00000304195.3	1	1	hg19	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662574	0.88251	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.90563	-2.22;-2.69;-0.25;-2.54	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.991;0.994;0.998	D	0.95210	0.8324	10	0.87932	D	0	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	552;552;209	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	L	552;358;209;552	ENSP00000365621:S552L;ENSP00000365617:S358L;ENSP00000328615:S209L;ENSP00000303508:S552L	ENSP00000303508:S552L	S	-	2	0	FRMD3	85052792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.340000	0.97038	2.699000	0.92147	0.655000	0.94253	TCA		TCGA-IB-7651-01A-11D-2154-08	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	1	0	1	75	330	0	82	0	5.194253e-01	1	8	0	82	2		0	0	0	0	0	2	1	1	75	325	0	82	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBQLN1	29979	broad.mit.edu	37	9	86278795	86278795	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86278795G>T	ENST00000376395.4	-	10	2135	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1			27					GATACCTGAGGATTTACTCCA	0.413000													Melanoma(186;1284 2073 12755 14558 18426)											0							SO:0001583	missense			ENST00000376395.4	1	1	hg19	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237373	0.39498	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.42513	0.97;0.97	5.74	4.84	0.62591	.	0.070583	0.64402	D	0.000013	T	0.37999	0.1024	M	0.64567	1.98	0.34088	D	0.660352	B;B	0.19706	0.004;0.038	B;B	0.15052	0.012;0.01	T	0.43410	-0.9393	10	0.23302	T	0.38	.	11.1769	0.48606	0.0745:0.1609:0.7645:0.0	.	510;538	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	T	538;510	ENSP00000365576:P538T;ENSP00000257468:P510T	ENSP00000257468:P510T	P	-	1	0	UBQLN1	85468615	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.761000	0.47589	2.695000	0.91970	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	1	0	1	61	274	0	82	1	1	102	260	0	82	2		0	0	0	0	0	2	1	1	60	268	0	80	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBQLN1	29979	broad.mit.edu	37	9	86293447	86293447	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293447C>A	ENST00000376395.4	-	5	1302	c.779G>T	c.(778-780)aGc>aTc	p.S260I	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1			27					TTCTAGGTTGCTCAAAGCTCG	0.443000													Melanoma(186;1284 2073 12755 14558 18426)											0							SO:0001583	missense			ENST00000376395.4	1	1	hg19	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235092	0.95207	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80738	-1.41;-1.41;-1.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	D	0.90439	0.4430	10	0.62326	D	0.03	.	19.8449	0.96704	0.0:1.0:0.0:0.0	.	260;260	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	I	260;260;57	ENSP00000365576:S260I;ENSP00000257468:S260I;ENSP00000434194:S57I	ENSP00000257468:S260I	S	-	2	0	UBQLN1	85483267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.680000	0.91292	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	1	0	1	342	1627	0	425	1	1	106	253	0	425	2		0	0	0	0	0	2	1	1	336	1586	0	422	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBQLN1	29979	broad.mit.edu	37	9	86293476	86293476	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293476C>A	ENST00000376395.4	-	5	1273	c.750G>T	c.(748-750)gaG>gaT	p.E250D	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1			27					TCCTCATCATCTCCTGCATCA	0.403000													Melanoma(186;1284 2073 12755 14558 18426)											0							SO:0001583	missense			ENST00000376395.4	1	1	hg19	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339463	0.81911	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80653	1.03;1.03;-1.4	5.71	3.31	0.37934	Heat shock chaperonin-binding (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.90977	3.165	0.51767	D	0.999933	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.986	D	0.88817	0.3296	10	0.72032	D	0.01	.	8.5668	0.33545	0.0:0.2121:0.0:0.7879	.	250;250	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	D	250;250;47	ENSP00000365576:E250D;ENSP00000257468:E250D;ENSP00000434194:E47D	ENSP00000257468:E250D	E	-	3	2	UBQLN1	85483296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.632000	0.37102	0.414000	0.25790	-0.238000	0.12139	GAG		TCGA-IB-7651-01A-11D-2154-08	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	0	0	1	320	1664	1	434	1	1	92	304	1	434	6		0	0	0	0	0	2	1	1	312	1629	1	431	16								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRD	5789	broad.mit.edu	37	9	8636735	8636735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636735G>A	ENST00000381196.4	-	10	717	c.174C>T	c.(172-174)aaC>aaT	p.N58N	PTPRD_ENST00000463477.1_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D			168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)			TTCCTTTTTTGTTCCAGACAA	0.458000										TSP Lung(15;0.13)														0							SO:0001819	synonymous_variant			ENST00000381196.4	1	1	hg19	CCDS43786.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1	97	533	0	107	0	6.491110e-02	0	3	0	107	2		0	0	0	0	0	2	1	1	95	525	0	107	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRD	5789	broad.mit.edu	37	9	8636839	8636839	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636839G>A	ENST00000381196.4	-	10	613	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D			168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)			GTAAACCTTGGAGGTGCTGAA	0.458000										TSP Lung(15;0.13)														0							SO:0001583	missense			ENST00000381196.4	1	1	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013073	0.93346	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	D;D;D;D;D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;0.997;0.999;1.0;0.997;1.0	D	0.96334	0.9246	9	.	.	.	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	24;24;24;24;24;24;24;24;24;24	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	24	ENSP00000370593:P24S;ENSP00000348812:P24S;ENSP00000353187:P24S;ENSP00000351293:P24S;ENSP00000347373:P24S;ENSP00000380741:P24S;ENSP00000380735:P24S;ENSP00000440515:P24S;ENSP00000438164:P24S;ENSP00000417093:P24S;ENSP00000380731:P24S;ENSP00000417661:P24S;ENSP00000417890:P24S	.	P	-	1	0	PTPRD	8626839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.782000	0.99034	2.764000	0.94973	0.650000	0.86243	CCA		TCGA-IB-7651-01A-11D-2154-08	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1	56	343	0	65	0	1.003685e-01	0	4	0	65	2		0	0	0	0	0	2	1	1	53	337	0	64	2								-20.000000	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
KIF27	55582	broad.mit.edu	37	9	86518147	86518147	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518147A>G	ENST00000297814.2	-	4	1429	c.1286T>C	c.(1285-1287)gTc>gCc	p.V429A	KIF27_ENST00000334204.2_Missense_Mutation_p.V429A|KIF27_ENST00000413982.1_Missense_Mutation_p.V429A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27			43					GTTTAGTCTGACAGTATCTTT	0.468000																								0							SO:0001583	missense			ENST00000297814.2	1	1	hg19	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	A	1.074	-0.669059	0.03403	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.68903	-0.36;-0.35;-0.22	5.37	3.04	0.35103	.	0.258741	0.26863	N	0.022107	T	0.50103	0.1596	L	0.46157	1.445	0.20821	N	0.999842	B;B;B	0.25850	0.049;0.136;0.132	B;B;B	0.22152	0.018;0.038;0.021	T	0.32481	-0.9905	10	0.06625	T	0.88	.	7.501	0.27518	0.696:0.0:0.304:0.0	.	429;429;429	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	A	429	ENSP00000297814:V429A;ENSP00000401688:V429A;ENSP00000333928:V429A	ENSP00000297814:V429A	V	-	2	0	KIF27	85707967	0.944000	0.32072	0.924000	0.36721	0.842000	0.47809	3.340000	0.52143	0.883000	0.36040	0.533000	0.62120	GTC		TCGA-IB-7651-01A-11D-2154-08	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	1	0	1	62	321	0	68	0	2.554738e-01	0	6	0	68	2		0	0	0	0	0	2	1	1	62	313	0	67	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF27	55582	broad.mit.edu	37	9	86518595	86518595	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518595C>T	ENST00000297814.2	-	4	981	c.838G>A	c.(838-840)Gct>Act	p.A280T	KIF27_ENST00000334204.2_Missense_Mutation_p.A280T|KIF27_ENST00000413982.1_Missense_Mutation_p.A280T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27			43					TCCCCAAGAGCGCTTATTACA	0.438000																								0							SO:0001583	missense			ENST00000297814.2	1	1	hg19	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471658	0.84533	0.0	1.16E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77620	-1.11;-1.11;-1.11	5.66	4.76	0.60689	Kinesin, motor domain (3);	0.000000	0.56097	D	0.000025	D	0.89750	0.6805	M	0.92077	3.27	0.52501	D	0.999955	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.68483	0.914;0.958;0.948	D	0.91639	0.5325	10	0.72032	D	0.01	.	14.0295	0.64606	0.0:0.9279:0.0:0.0721	.	280;280;280	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	280	ENSP00000297814:A280T;ENSP00000401688:A280T;ENSP00000333928:A280T	ENSP00000297814:A280T	A	-	1	0	KIF27	85708415	1.000000	0.71417	0.975000	0.42487	0.856000	0.48823	6.081000	0.71309	2.657000	0.90304	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	1	0	1	76	352	0	100	1	8.536859e-02	2	1	0	100	2		0	0	0	0	0	2	1	1	73	346	0	100	2								-20.000000	1	1	121412	2	36	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF27	55582	broad.mit.edu	37	9	86518816	86518816	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518816C>T	ENST00000297814.2	-	4	760	c.617G>A	c.(616-618)aGa>aAa	p.R206K	KIF27_ENST00000334204.2_Missense_Mutation_p.R206K|KIF27_ENST00000413982.1_Missense_Mutation_p.R206K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27			43					TGCATGTGATCTGCTGGAGTG	0.438000																								0							SO:0001583	missense			ENST00000297814.2	1	1	hg19	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796143	0.90453	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	D;D;D	0.86432	-2.12;-2.12;-2.12	5.57	4.62	0.57501	Kinesin, motor domain (5);	0.000000	0.56097	D	0.000024	D	0.96870	0.8978	H	0.99887	4.895	0.45899	D	0.998744	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.962;0.982;0.98	D	0.98374	1.0555	10	0.87932	D	0	.	15.9098	0.79463	0.0:0.8647:0.1353:0.0	.	206;206;206	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	206	ENSP00000297814:R206K;ENSP00000401688:R206K;ENSP00000333928:R206K	ENSP00000297814:R206K	R	-	2	0	KIF27	85708636	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.041000	0.70988	2.610000	0.88304	0.591000	0.81541	AGA		TCGA-IB-7651-01A-11D-2154-08	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	1	0	1	136	904	0	258	0	8.677746e-02	0	4	0	258	2		0	0	0	0	0	2	1	1	129	878	0	257	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIF27	55582	broad.mit.edu	37	9	86523489	86523489	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86523489C>T	ENST00000297814.2	-	3	520	c.377G>A	c.(376-378)aGc>aAc	p.S126N	KIF27_ENST00000334204.2_Missense_Mutation_p.S126N|KIF27_ENST00000413982.1_Missense_Mutation_p.S126N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27			43					AAAGTCAATGCTAGGATGTTC	0.363000																								0							SO:0001583	missense			ENST00000297814.2	1	1	hg19	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	3.082	-0.188885	0.06299	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72051	-0.62;-0.62;-0.62	5.27	-0.74	0.11115	Kinesin, motor domain (4);	0.413402	0.22375	N	0.060891	T	0.40448	0.1117	N	0.04768	-0.165	0.25894	N	0.98343	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.31833	-0.9929	10	0.06494	T	0.89	.	10.3921	0.44179	0.0:0.2838:0.0:0.7162	.	126;126;126	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	126	ENSP00000297814:S126N;ENSP00000401688:S126N;ENSP00000333928:S126N	ENSP00000297814:S126N	S	-	2	0	KIF27	85713309	0.003000	0.15002	0.977000	0.42913	0.982000	0.71751	0.554000	0.23407	-0.086000	0.12550	0.491000	0.48974	AGC		TCGA-IB-7651-01A-11D-2154-08	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	0	0	0	22	769	0	136	0	5.005174e-03	0	4	0	136	2		0	0	0	0	0	2	1	9.999982e-01	21	749	0	135	2								-3.107441	1	1	121408	1	29	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.310000	0.200000	0.460000	0.310000	0.328899	0.310000	0	2.500000e-01	3.900000e-01
C9orf64	84267	broad.mit.edu	37	9	86559841	86559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86559841C>T	ENST00000376344.3	-	3	877	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64			15					CCTTTTCCTTCCAATACACTC	0.398000																								0							SO:0001583	missense			ENST00000376344.3	1	1	hg19	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125138	0.77436	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	5.24	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.31371	0.925	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.14476	-1.0471	9	0.10902	T	0.67	-13.5167	11.5734	0.50848	0.0:0.8551:0.0:0.1449	.	221	Q5T6V5	CI064_HUMAN	K	221;80	.	ENSP00000318375:E80K	E	-	1	0	C9orf64	85749661	1.000000	0.71417	0.077000	0.20336	0.992000	0.81027	7.677000	0.84024	0.715000	0.32103	0.655000	0.94253	GAA		TCGA-IB-7651-01A-11D-2154-08	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	1	0	1	49	250	0	55	1	9.999447e-01	27	50	0	55	2		0	0	0	0	0	2	1	1	46	246	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
HNRNPK	3190	broad.mit.edu	37	9	86585163	86585163	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86585163C>G	ENST00000376264.2	-	16	1533	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000376263.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K			19					CTTCTAAAGGCTCATCAATTT	0.408000																								0							SO:0001583	missense			ENST00000376264.2	1	1	hg19	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783871	0.49891	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.33	-2.79	0.05841	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.12853	0.265	0.50632	D	0.999883	D;B;D;D;D;D;D;D	0.76494	0.998;0.166;0.999;0.999;0.999;0.997;0.998;0.999	D;P;D;D;D;D;D;D	0.85130	0.994;0.519;0.996;0.996;0.995;0.99;0.996;0.997	T	0.02251	-1.1188	10	0.38643	T	0.18	-5.7936	13.4098	0.60935	0.0:0.4477:0.0:0.5523	.	401;390;425;420;425;401;425;425	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	D	425;425;425;425;425;390;425;420	ENSP00000365458:E425D;ENSP00000365440:E425D;ENSP00000365439:E425D;ENSP00000317788:E425D;ENSP00000353552:E425D	ENSP00000317788:E425D	E	-	3	2	HNRNPK	85774983	0.469000	0.25846	0.981000	0.43875	0.996000	0.88848	-0.281000	0.08456	-0.480000	0.06803	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2	1	0	1	51	273	0	67	1	1	496	1205	0	67	2		0	0	0	0	0	2	1	1	51	272	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
HNRNPK	3190	broad.mit.edu	37	9	86586806	86586806	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86586806G>T	ENST00000376264.2	-	11	1202	c.944C>A	c.(943-945)cCt>cAt	p.P315H	HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000376263.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K			19					CCCCCCTCTAGGTGGTGGTGG	0.527000																								0							SO:0001583	missense			ENST00000376264.2	1	1	hg19	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492840	0.44352	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.50813	0.73;0.77;0.73;0.77;0.77	5.31	5.31	0.75309	.	0.301034	0.36555	N	0.002539	T	0.56572	0.1994	L	0.34521	1.04	0.47698	D	0.999494	D;D;D;D;P;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.947;1.0;1.0;0.911	D;D;D;D;P;D;D;B	0.91635	0.997;0.997;0.998;0.999;0.584;0.999;0.999;0.379	T	0.44682	-0.9312	10	0.13470	T	0.59	-4.0566	17.5267	0.87802	0.0:0.0:1.0:0.0	.	291;280;315;310;315;291;315;315	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	315;315;315;315;315;280;315;310;291;246	ENSP00000365458:P315H;ENSP00000365440:P315H;ENSP00000365439:P315H;ENSP00000317788:P315H;ENSP00000353552:P315H	ENSP00000317788:P315H	P	-	2	0	HNRNPK	85776626	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.068000	0.71201	2.636000	0.89361	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2	1	0	1	94	417	0	113	1	1	416	1073	0	113	2		0	0	0	0	0	2	1	1	93	404	0	112	2								-2.522124	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC28A3	64078	broad.mit.edu	37	9	86955505	86955505	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86955505C>A	ENST00000376238.4	-	1	93	c.44G>T	c.(43-45)aGc>aTc	p.S15I	SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3			31				Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GCCCACGTTGCTGTAGCCCTC	0.532000													Ovarian(106;425 1539 34835 42413 43572)											0							SO:0001583	missense			ENST00000376238.4	1	1	hg19	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880787	0.17467	.	.	ENSG00000197506	ENST00000376238	T	0.01613	4.73	4.44	-0.595	0.11660	.	1.122910	0.06607	N	0.754892	T	0.01870	0.0059	L	0.36672	1.1	0.25130	N	0.990578	B	0.23128	0.08	B	0.24701	0.055	T	0.48080	-0.9066	10	0.45353	T	0.12	-0.0182	3.624	0.08107	0.1677:0.4559:0.0:0.3764	.	15	Q9HAS3	S28A3_HUMAN	I	15	ENSP00000365413:S15I	ENSP00000365413:S15I	S	-	2	0	SLC28A3	86145325	0.282000	0.24268	0.056000	0.19401	0.013000	0.08279	0.177000	0.16801	-0.101000	0.12219	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	1	0	1	102	457	0	138	1	9.947679e-01	12	26	0	138	2		0	0	0	0	0	2	1	1	100	445	0	138	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTRK2	4915	broad.mit.edu	37	9	87285823	87285823	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87285823G>A	ENST00000323115.4	+	1	513	c.160G>A	c.(160-162)Gca>Aca	p.A54T	NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000304053.6_Missense_Mutation_p.A54T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2			46				Amitriptyline(DB00321)	TGGCATCGTGGCATTTCCGAG	0.567000										TSP Lung(25;0.17)														0							SO:0001583	missense			ENST00000323115.4	1	1	hg19	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271193	0.40194	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847	D;D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	5.01	4.12	0.48240	Leucine-rich repeat-containing N-terminal (2);	0.197986	0.42548	D	0.000681	D	0.95856	0.8651	L	0.55481	1.735	0.80722	D	1	P;P;P;P;P;P;P	0.51933	0.937;0.937;0.949;0.923;0.843;0.907;0.937	P;P;P;P;P;P;P	0.61070	0.814;0.814;0.883;0.755;0.487;0.566;0.814	D	0.93206	0.6596	10	0.12766	T	0.61	.	8.3645	0.32378	0.0817:0.0:0.7287:0.1895	.	54;54;54;54;54;100;54	Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;NTRK2_HUMAN;.;.;.	T	54	ENSP00000365387:A54T;ENSP00000365386:A54T;ENSP00000379221:A54T;ENSP00000365381:A54T;ENSP00000306167:A54T;ENSP00000277120:A54T;ENSP00000314586:A54T;ENSP00000352906:A54T	ENSP00000277120:A54T	A	+	1	0	NTRK2	86475643	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.171000	0.50824	1.341000	0.45600	0.561000	0.74099	GCA		TCGA-IB-7651-01A-11D-2154-08	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	1	0	1	20	337	0	62	1	8.190281e-01	14	41	0	62	2		0	0	0	0	0	2	1	9.999941e-01	20	326	0	61	2								-3.315114	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.640000	0.400000	0.930000	0.630000	0.656476	0.640000	0	5.100000e-01	7.900000e-01
NTRK2	4915	broad.mit.edu	37	9	87338493	87338493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87338493C>T	ENST00000323115.4	+	6	942	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000304053.6_Missense_Mutation_p.P197S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2			46				Amitriptyline(DB00321)	CATAGGTTTGCCATCTGCAAA	0.373000										TSP Lung(25;0.17)														0							SO:0001583	missense			ENST00000323115.4	1	1	hg19	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273442	0.80580	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	D;D;T;T;T;D;D;T;T	0.82081	-1.57;-1.52;-1.32;-1.36;-1.29;-1.57;-1.52;-1.32;-1.24	5.64	5.64	0.86602	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	H	0.98027	4.13	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96360	0.9265	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	41;197;197;197;197;197;243;197	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	S	197;197;197;197;197;197;197;197;41	ENSP00000365387:P197S;ENSP00000365386:P197S;ENSP00000379221:P197S;ENSP00000365381:P197S;ENSP00000306167:P197S;ENSP00000277120:P197S;ENSP00000314586:P197S;ENSP00000352906:P197S;ENSP00000379207:P41S	ENSP00000277120:P197S	P	+	1	0	NTRK2	86528313	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.070000	0.64376	2.807000	0.96579	0.591000	0.81541	CCA		TCGA-IB-7651-01A-11D-2154-08	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	1	0	1	39	350	0	86	1	9.957179e-01	6	71	0	86	2		0	0	0	0	0	2	1	1	39	347	0	85	2								-3.221884	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.830000	1.000000	1.000000	0.983983	0.990000	1	9.700000e-01	1
NTRK2	4915	broad.mit.edu	37	9	87339252	87339252	+	Silent	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87339252T>G	ENST00000323115.4	+	7	1187	c.834T>G	c.(832-834)tcT>tcG	p.S278S	NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000395882.1_Silent_p.S278S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000304053.6_Silent_p.S278S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S|NTRK2_ENST00000376213.1_Silent_p.S278S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2			46				Amitriptyline(DB00321)	ATCAAGATTCTGTCAACCTCA	0.448000										TSP Lung(25;0.17)														0							SO:0001819	synonymous_variant			ENST00000323115.4	1	1	hg19	CCDS35050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	0	0	1	160	786	0	213	1	9.989375e-01	2	49	0	213	2		0	0	0	0	0	2	1	1	158	778	0	212	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NTRK2	4915	broad.mit.edu	37	9	87482309	87482309	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87482309C>T	ENST00000323115.4	+	12	1901	c.1548C>T	c.(1546-1548)taC>taT	p.Y516Y	NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000304053.6_Silent_p.Y532Y|NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2			46				Amitriptyline(DB00321)	ATCCCCAGTACTTTGGCATCA	0.448000										TSP Lung(25;0.17)														0							SO:0001819	synonymous_variant			ENST00000323115.4	1	1	hg19	CCDS35050.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	1	0	0	119	664	0	155	0	6.315082e-02	0	3	0	155	2		0	0	0	0	0	2	1	1	116	655	0	153	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGTPBP1	23287	broad.mit.edu	37	9	88284449	88284449	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88284449T>G	ENST00000357081.3	-	8	757	c.613A>C	c.(613-615)Atg>Ctg	p.M205L	AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1			44					ATTTTAAACATCAGTTCCACA	0.343000																								0							SO:0001583	missense			ENST00000357081.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	4.883	0.164042	0.09287	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.26957	1.7;1.7;2.17;2.17;1.99;1.7;1.7	5.76	-1.51	0.08664	Armadillo-like helical (1);Armadillo-type fold (1);	0.313564	0.42964	N	0.000628	T	0.07143	0.0181	N	0.03154	-0.405	0.34644	D	0.720952	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.45338	-0.9268	10	0.02654	T	1	-6.8687	7.3001	0.26415	0.3228:0.0:0.3568:0.3204	.	257;205;43;205	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	L	147;205;205;257;43;205;147	ENSP00000338512:M147L;ENSP00000349592:M205L;ENSP00000365251:M205L;ENSP00000365277:M257L;ENSP00000402804:M43L;ENSP00000365249:M205L;ENSP00000365248:M147L	ENSP00000338512:M147L	M	-	1	0	AGTPBP1	87474269	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	1.346000	0.33964	-0.165000	0.10908	0.533000	0.62120	ATG		TCGA-IB-7651-01A-11D-2154-08	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	1	0	1	51	230	0	85	1	9.701200e-01	10	18	0	85	2		0	0	0	0	0	2	1	1	49	227	0	85	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AGTPBP1	23287	broad.mit.edu	37	9	88292495	88292495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88292495C>A	ENST00000357081.3	-	6	436	c.292G>T	c.(292-294)Gga>Tga	p.G98*	AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.G150*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000432218.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1			44					CTTCGACCTCCACCtaaaaat	0.299000																								0							SO:0001587	stop_gained			ENST00000357081.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	32	5.141000	0.94560	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081;ENST00000376080	.	.	.	5.63	5.63	0.86233	.	0.147635	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.8019	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	40;98;98;150;98;40	.	ENSP00000338512:G40X	G	-	1	0	AGTPBP1	87482315	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.259000	0.65485	2.798000	0.96311	0.655000	0.94253	GGA		TCGA-IB-7651-01A-11D-2154-08	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	0	0	0	24	335	0	58	0	5.757611e-01	0	28	0	58	2		0	0	0	0	0	2	1	9.999994e-01	24	314	0	55	2								-3.075805	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.760000	0.500000	1.000000	1.000000	0.772017	0.760000	0	6.200000e-01	9.200000e-01
ZCCHC6	79670	broad.mit.edu	37	9	88938254	88938254	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88938254G>A	ENST00000375963.3	-	13	2583	c.2411C>T	c.(2410-2412)gCc>gTc	p.A804V	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.A93V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6			46					ATCTAAAGTGGCAAGTCCCTC	0.453000																								0							SO:0001583	missense			ENST00000375963.3	1	1	hg19	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	9.986	1.229520	0.22542	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.54866	0.55;0.99;0.98;0.98	5.29	2.23	0.28157	.	1.199960	0.05745	N	0.602137	T	0.36880	0.0983	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.21861	-1.0233	10	0.30854	T	0.27	-4.5993	4.6312	0.12502	0.4745:0.2327:0.2929:0.0	.	681;804	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	V	93;681;804;804	ENSP00000277141:A93V;ENSP00000365127:A681V;ENSP00000365128:A804V;ENSP00000365130:A804V	ENSP00000277141:A93V	A	-	2	0	ZCCHC6	88128074	0.219000	0.23619	0.002000	0.10522	0.252000	0.25951	0.778000	0.26732	0.324000	0.23333	0.585000	0.79938	GCC		TCGA-IB-7651-01A-11D-2154-08	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	1	0	1	130	578	0	129	1	9.999999e-01	22	80	0	129	2		0	0	0	0	0	2	1	1	130	569	0	128	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC6	79670	broad.mit.edu	37	9	88958032	88958032	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88958032G>C	ENST00000375963.3	-	6	1216	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6			46					CCGAATTTTTGAAACCCAATC	0.308000																								0							SO:0001583	missense			ENST00000375963.3	1	1	hg19	CCDS35057.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.31	2.495913	0.44352	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	D;D;D	0.81659	-1.52;-1.52;-1.52	5.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.83995	0.5375	L	0.49640	1.575	0.41057	D	0.98534	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.996;0.996;0.997;0.994	T	0.79553	-0.1756	10	0.19147	T	0.46	-15.6626	10.941	0.47273	0.1505:0.0:0.8495:0.0	.	348;348;348;348	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	L	348	ENSP00000365127:F348L;ENSP00000365128:F348L;ENSP00000365130:F348L	ENSP00000365127:F348L	F	-	3	2	ZCCHC6	88147852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.177000	0.42509	0.720000	0.32209	0.650000	0.86243	TTC		TCGA-IB-7651-01A-11D-2154-08	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	1	0	1	44	301	0	71	1	9.989426e-01	9	63	0	71	2		0	0	0	0	0	2	1	1	42	296	0	70	2								-18.364240	1	1	121412	1	35	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999596	0.990000	1	9.900000e-01	1
DAPK1	1612	broad.mit.edu	37	9	90219966	90219966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90219966C>T	ENST00000408954.3	+	3	495	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DAPK1_ENST00000491893.1_Missense_Mutation_p.R54W|DAPK1_ENST00000469640.2_Missense_Mutation_p.R54W|DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1			72					GTCCAGCCGGCGGGGTGTGAG	0.557000									Chronic Lymphocytic Leukemia, Familial Clustering of															0							SO:0001583	missense	Familial Cancer Database	Familial CLL	ENST00000408954.3	1	1	hg19	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807760	0.90623	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.04	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000408	T	0.78848	0.4348	L	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.81306	-0.0992	10	0.87932	D	0	.	13.9289	0.63981	0.1532:0.8468:0.0:0.0	.	54;54;54	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	W	54	ENSP00000350785:R54W;ENSP00000417076:R54W;ENSP00000418885:R54W;ENSP00000386135:R54W;ENSP00000419026:R54W	ENSP00000350785:R54W	R	+	1	2	DAPK1	89409786	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	2.952000	0.49097	1.332000	0.45431	0.511000	0.50034	CGG		TCGA-IB-7651-01A-11D-2154-08	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	0	0	1	52	252	1	49	1	9.877678e-01	13	80	1	49	8		0	0	0	0	0	2	1	9.999907e-01	52	247	1	49	19								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
DAPK1	1612	broad.mit.edu	37	9	90258300	90258300	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90258300C>T	ENST00000408954.3	+	11	1263	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C|DAPK1_ENST00000469640.2_Missense_Mutation_p.R310C|DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1			72					GCAATCCGTTCGCTTGATATC	0.428000									Chronic Lymphocytic Leukemia, Familial Clustering of															0							SO:0001583	missense	Familial Cancer Database	Familial CLL	ENST00000408954.3	1	1	hg19	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173017	0.94807	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68331	-0.32;-0.32;-0.31;-0.32;-0.29	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000072	T	0.76040	0.3932	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.64595	0.927;0.879;0.595	T	0.77747	-0.2472	10	0.87932	D	0	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	310;310;310	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	310	ENSP00000350785:R310C;ENSP00000417076:R310C;ENSP00000418885:R310C;ENSP00000386135:R310C;ENSP00000419026:R310C	ENSP00000350785:R310C	R	+	1	0	DAPK1	89448120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.681000	0.84073	2.716000	0.92895	0.655000	0.94253	CGC		TCGA-IB-7651-01A-11D-2154-08	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	1	0	0	20	117	0	28	1	9.999885e-01	14	105	0	28	2		0	0	0	0	0	2	1	9.999965e-01	18	116	0	28	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.997978	0.990000	1	9.900000e-01	1
SPIN1	10927	broad.mit.edu	37	9	91083296	91083296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91083296G>A	ENST00000375859.3	+	5	643	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1			4					GCGACATCTCGAATCAGCGAT	0.413000																								0							SO:0001583	missense			ENST00000375859.3	1	1	hg19	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	8.066	0.769194	0.15983	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.39787	1.06;1.06	5.12	2.26	0.28386	.	0.241703	0.34411	N	0.003998	T	0.16811	0.0404	N	0.12920	0.275	0.58432	D	0.999997	D	0.55800	0.973	B	0.38683	0.279	T	0.32455	-0.9906	10	0.02654	T	1	-4.6556	7.4168	0.27048	0.1432:0.0:0.72:0.1368	.	122	Q9Y657	SPIN1_HUMAN	Q	122	ENSP00000365019:R122Q;ENSP00000441864:R122Q	ENSP00000365019:R122Q	R	+	2	0	SPIN1	90273116	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	7.326000	0.79133	0.318000	0.23185	-0.136000	0.14681	CGA		TCGA-IB-7651-01A-11D-2154-08	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	1	0	1	36	181	0	58	1	1	46	189	0	58	2		0	0	0	0	0	2	1	1	36	176	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999975	0.990000	1	9.900000e-01	1
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2			32					AGGGGATGGACGAACTGATCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000375807.3	1	1	hg19	CCDS6683.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	1	0	1	53	351	0	92	1	9.995203e-01	19	58	0	92	2		0	0	0	0	0	2	1	1	52	343	0	91	2								-19.995940	1	1	121412	5	37	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999905	0.990000	1	9.900000e-01	1
SECISBP2	79048	broad.mit.edu	37	9	91972418	91972418	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91972418C>T	ENST00000375807.3	+	15	2277	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2			32					AGCTCTGGGGCGCAGTTTGAA	0.527000																								0							SO:0001583	missense			ENST00000375807.3	1	1	hg19	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991652	0.93106	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.59906	0.23;0.23;0.23	4.68	4.68	0.58851	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056493	0.64402	D	0.000001	T	0.77948	0.4207	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.81531	-0.0890	10	0.87932	D	0	-12.9178	18.1344	0.89614	0.0:1.0:0.0:0.0	.	743;663;736	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	C	736;742;663;668	ENSP00000364965:R736C;ENSP00000364959:R663C;ENSP00000436650:R668C	ENSP00000364959:R663C	R	+	1	0	SECISBP2	91162238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.583000	0.87209	0.555000	0.69702	CGC		TCGA-IB-7651-01A-11D-2154-08	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	0	0	1	189	765	0	185	1	1	18	78	0	185	2		0	0	0	0	0	2	1	1	186	756	0	184	2								-3.485388	1	1	121412	6	43	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SEMA4D	10507	broad.mit.edu	37	9	91996226	91996226	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91996226G>A	ENST00000450295.1	-	14	2258	c.1482C>T	c.(1480-1482)ggC>ggT	p.G494G	SEMA4D_ENST00000356444.2_Silent_p.G494G|SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G|SEMA4D_ENST00000420987.1_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G|SEMA4D_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D			34					CCTGGACCACGCCCGAGTTAG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000450295.1	0	1	hg19	CCDS6685.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	0	0	0	11	61	0	12	1	9.901276e-01	5	43	0	12	2		0	0	0	0	0	2	1	9.985653e-01	11	59	0	12	2								-19.640720	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.840000	1.000000	1.000000	0.990448	0.990000	1	9.900000e-01	1
DIRAS2	54769	broad.mit.edu	37	9	93375522	93375522	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375522G>A	ENST00000375765.3	-	2	976	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2			12					ACATGATCACGCACTTGCCTT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000375765.3	1	1	hg19	CCDS6687.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1	1	0	1	81	366	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1	81	355	0	56	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIRAS2	54769	broad.mit.edu	37	9	93375869	93375869	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375869C>T	ENST00000375765.3	-	2	629	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2			12					AGGATGAAGGCGTGCCCTTTG	0.562000																								0							SO:0001583	missense			ENST00000375765.3	1	1	hg19	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386281	0.95967	.	.	ENSG00000165023	ENST00000375765	T	0.78246	-1.16	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.90788	0.4684	10	0.87932	D	0	.	17.9796	0.89137	0.0:1.0:0.0:0.0	.	81	Q96HU8	DIRA2_HUMAN	T	81	ENSP00000364919:A81T	ENSP00000364919:A81T	A	-	1	0	DIRAS2	92415689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.473000	0.81007	2.808000	0.96608	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1	1	0	0	59	660	0	158	0	1.983339e-02	0	3	0	158	2		0	0	0	0	0	2	1	1	57	649	0	158	2								-14.348520	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.930000	0.720000	1.000000	1.000000	0.918884	0.930000	1	8.200000e-01	1
SYK	6850	broad.mit.edu	37	9	93606405	93606405	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606405C>A	ENST00000375754.4	+	2	373	c.225C>A	c.(223-225)gcC>gcA	p.A75A	SYK_ENST00000375751.4_Silent_p.A75A|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase			26					GCACCTACGCCATCGCCGGTG	0.657000			T	ETV6, ITK	MDS, peripheral T-cell lymphoma										Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0							SO:0001819	synonymous_variant			ENST00000375754.4	0	1	hg19	CCDS6688.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1	0	0	1	7	258	0	30	1	7.098019e-01	9	81	0	30	2		0	0	0	0	0	2	1	9.799287e-01	6	255	0	30	2								-8.397726	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.310000	0.140000	0.570000	0.300000	0.334742	0.310000	0	2.100000e-01	4.400000e-01
SYK	6850	broad.mit.edu	37	9	93606436	93606436	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606436G>A	ENST00000375754.4	+	2	404	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SYK_ENST00000375751.4_Missense_Mutation_p.A86T|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375747.1_Missense_Mutation_p.A86T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase			26					TGCCAGCCCCGCCGACCTCTG	0.667000			T	ETV6, ITK	MDS, peripheral T-cell lymphoma										Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0							SO:0001583	missense			ENST00000375754.4	1	1	hg19	CCDS6688.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	19.34	3.808139	0.70797	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.79	4.79	0.61399	SH2 motif (4);	0.115291	0.64402	D	0.000014	D	0.87501	0.6193	N	0.16903	0.455	0.49130	D	0.999752	D;D;D	0.67145	0.992;0.993;0.996	P;P;P	0.56398	0.553;0.681;0.797	D	0.87018	0.2127	10	0.32370	T	0.25	.	18.0426	0.89323	0.0:0.0:1.0:0.0	.	86;86;86	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	T	86	ENSP00000364907:A86T;ENSP00000364904:A86T;ENSP00000364899:A86T;ENSP00000364898:A86T	ENSP00000364898:A86T	A	+	1	0	SYK	92646257	0.996000	0.38824	0.626000	0.29213	0.503000	0.33858	5.814000	0.69208	2.495000	0.84180	0.556000	0.70494	GCC		TCGA-IB-7651-01A-11D-2154-08	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1	1	0	1	43	242	0	38	1	9.999928e-01	18	85	0	38	2		0	0	0	0	0	2	1	1	41	235	0	37	2								-20.000000	1	0	121408	5	34	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999973	0.990000	1	9.900000e-01	1
SYK	6850	broad.mit.edu	37	9	93650131	93650131	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93650131T>C	ENST00000375754.4	+	12	1830	c.1682T>C	c.(1681-1683)tTg>tCg	p.L561S	SYK_ENST00000375751.4_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S|SYK_ENST00000375747.1_Missense_Mutation_p.L538S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase			26					TTTGGAGTGTTGATGTGGGAA	0.502000			T	ETV6, ITK	MDS, peripheral T-cell lymphoma										Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0							SO:0001583	missense			ENST00000375754.4	1	1	hg19	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774724	0.49786	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.78	3.65	0.41850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.76062	0.3935	M	0.73598	2.24	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76913	-0.2783	10	0.72032	D	0.01	.	10.1934	0.43041	0.0:0.0784:0.0:0.9216	.	538;561	P43405-2;P43405	.;KSYK_HUMAN	S	561;538;538;561	ENSP00000364907:L561S;ENSP00000364904:L538S;ENSP00000364899:L538S;ENSP00000364898:L561S	ENSP00000364898:L561S	L	+	2	0	SYK	92689952	0.709000	0.27886	0.282000	0.24776	0.653000	0.38743	3.642000	0.54367	0.857000	0.35407	0.379000	0.24179	TTG		TCGA-IB-7651-01A-11D-2154-08	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1	1	0	1	152	685	0	173	1	9.999990e-01	24	64	0	173	2		0	0	0	0	0	2	1	1	150	662	0	170	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AUH	549	broad.mit.edu	37	9	93978386	93978386	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93978386G>A	ENST00000375731.4	-	9	920	c.897C>T	c.(895-897)gtC>gtT	p.V299V	AUH_ENST00000303617.5_Silent_p.V270V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase			11					TTACTAAATCGACCTGAGAAT	0.338000																								0							SO:0001819	synonymous_variant			ENST00000375731.4	1	1	hg19	CCDS6689.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1	1	0	1	50	232	0	71	1	9.995263e-01	2	54	0	71	2		0	0	0	0	0	2	1	1	49	231	0	71	2								-3.230478	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AUH	549	broad.mit.edu	37	9	93979605	93979605	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93979605G>T	ENST00000375731.4	-	8	871	c.848C>A	c.(847-849)cCt>cAt	p.P283H	AUH_ENST00000303617.5_Missense_Mutation_p.P254H	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase			11					CATTGCAACAGGTCCCTAAAA	0.343000																								0							SO:0001583	missense			ENST00000375731.4	1	1	hg19	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436352	0.83885	.	.	ENSG00000148090	ENST00000375731;ENST00000303617	T;T	0.80480	-1.38;-1.38	5.21	5.21	0.72293	Crontonase, C-terminal (1);	0.052276	0.85682	D	0.000000	D	0.93546	0.7940	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95237	0.8348	10	0.72032	D	0.01	.	18.9459	0.92622	0.0:0.0:1.0:0.0	.	254;283	Q13825-2;Q13825	.;AUHM_HUMAN	H	283;254	ENSP00000364883:P283H;ENSP00000307334:P254H	ENSP00000307334:P254H	P	-	2	0	AUH	93019426	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.733000	0.91539	2.722000	0.93159	0.591000	0.81541	CCT		TCGA-IB-7651-01A-11D-2154-08	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1	0	0	0	24	302	0	61	1	9.266158e-01	6	52	0	61	2		0	0	0	0	0	2	1	9.999997e-01	24	299	0	60	2								-2.841679	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.830000	0.550000	1.000000	1.000000	0.836179	0.830000	0	6.800000e-01	1
NFIL3	4783	broad.mit.edu	37	9	94172259	94172259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94172259G>A	ENST00000297689.3	-	2	1152	c.758C>T	c.(757-759)tCt>tTt	p.S253F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated			16					TGAGTACCCAGAGAAAGAATT	0.498000													Esophageal Squamous(152;732 1832 10053 26981 51762)											0							SO:0001583	missense			ENST00000297689.3	1	1	hg19	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381410	0.24944	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	4.65	0.58169	Vertebrate interleukin-3 regulated transcription factor (1);	0.644741	0.14767	N	0.299652	T	0.37320	0.0999	L	0.47716	1.5	0.09310	N	1	P	0.42203	0.773	P	0.44518	0.452	T	0.13098	-1.0522	9	0.10636	T	0.68	-9.2061	9.8799	0.41227	0.0:0.139:0.6984:0.1626	.	253	Q16649	NFIL3_HUMAN	F	253	.	ENSP00000297689:S253F	S	-	2	0	NFIL3	93212080	0.794000	0.28838	0.005000	0.12908	0.093000	0.18481	4.517000	0.60503	2.429000	0.82318	0.561000	0.74099	TCT		TCGA-IB-7651-01A-11D-2154-08	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	1	0	1	112	454	0	127	1	1	5	95	0	127	2		0	0	0	0	0	2	1	1	112	447	0	125	2								-3.239484	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ROR2	4920	broad.mit.edu	37	9	94486406	94486406	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486406C>T	ENST00000375708.3	-	9	2568	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2			71					GGGCCTTCTGCTTGGGCCCCA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000375708.3	1	1	hg19	CCDS6691.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1	1	0	1	87	446	0	77	0	9.890538e-01	0	38	0	77	2		0	0	0	0	0	2	1	1	87	441	0	74	2								-20.000000	1	0	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTLC1	10558	broad.mit.edu	37	9	94812267	94812267	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94812267C>T	ENST00000262554.2	-	9	868	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1			14				L-Serine(DB00133)	TTCAGTGACTCCTCGGCCATG	0.388000																								0							SO:0001583	missense			ENST00000262554.2	1	1	hg19	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811721	0.90707	.	.	ENSG00000090054	ENST00000262554	D	0.96427	-4.01	4.66	4.66	0.58398	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056205	0.64402	D	0.000001	D	0.98927	0.9636	H	0.97940	4.11	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.997;0.994	D	0.99425	1.0934	10	0.87932	D	0	-15.9455	17.7986	0.88579	0.0:1.0:0.0:0.0	.	288;288	Q6NUL7;O15269	.;SPTC1_HUMAN	E	288	ENSP00000262554:G288E	ENSP00000262554:G288E	G	-	2	0	SPTLC1	93852088	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.407000	0.80029	2.411000	0.81874	0.551000	0.68910	GGA		TCGA-IB-7651-01A-11D-2154-08	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	1	0	1	101	468	0	139	1	1	88	253	0	139	2		0	0	0	0	0	2	1	1	100	463	0	137	2								-3.361625	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPTLC1	10558	broad.mit.edu	37	9	94842364	94842364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94842364C>T	ENST00000262554.2	-	5	366	c.361G>A	c.(361-363)Gct>Act	p.A121T	SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1			14				L-Serine(DB00133)	GATGCTAAAGCTGCTGCCTTT	0.363000																								0							SO:0001583	missense			ENST00000262554.2	1	1	hg19	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032641	0.93575	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95554	-2.83;-3.74	5.44	5.44	0.79542	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.69078	0.991;0.996;0.995;0.997	D;D;D;D	0.77557	0.987;0.921;0.973;0.99	D	0.98626	1.0669	10	0.87932	D	0	-19.3186	19.0495	0.93038	0.0:1.0:0.0:0.0	.	121;121;116;121	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	T	121	ENSP00000262554:A121T;ENSP00000337635:A121T	ENSP00000262554:A121T	A	-	1	0	SPTLC1	93882185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.691000	0.68249	2.832000	0.97577	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	1	0	1	62	283	0	60	1	1	98	250	0	60	2		0	0	0	0	0	2	1	1	60	274	0	60	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IARS	3376	broad.mit.edu	37	9	95014113	95014113	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95014113G>T	ENST00000375643.3	-	22	2550	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M	IARS_ENST00000443024.2_Missense_Mutation_p.L762M|IARS_ENST00000447699.2_Missense_Mutation_p.L652M|IARS_ENST00000375629.3_De_novo_Start_InFrame	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase			35				L-Isoleucine(DB00167)	AGAGAAAGCAGAACACTAAAC	0.418000																								0							SO:0001583	missense			ENST00000375643.3	0	1	hg19	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009501	0.75046	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.20200	2.09;2.09;2.09	5.72	4.83	0.62350	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.59867	-0.7373	10	0.87932	D	0	-10.5957	11.8558	0.52437	0.1439:0.0:0.8561:0.0	.	762;607	P41252;Q6P0M4	SYIC_HUMAN;.	M	762;762;652;762	ENSP00000364794:L762M;ENSP00000406448:L762M;ENSP00000415020:L652M	ENSP00000364794:L762M	L	-	1	2	IARS	94053934	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	4.005000	0.57075	1.446000	0.47643	0.655000	0.94253	CTG		TCGA-IB-7651-01A-11D-2154-08	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	0	0	0	7	313	0	58	1	9.452803e-01	15	217	0	58	2		0	0	0	0	0	2	1	9.802485e-01	7	310	0	57	2								-3.821405	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.260000	0.110000	0.480000	0.250000	0.278642	0.260000	0	1.700000e-01	3.700000e-01
IARS	3376	broad.mit.edu	37	9	95019019	95019019	+	Missense_Mutation	SNP	G	G	A	rs144846345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95019019G>A	ENST00000375643.3	-	20	2346	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	IARS_ENST00000443024.2_Missense_Mutation_p.R694W|IARS_ENST00000447699.2_Missense_Mutation_p.R584W|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase			35				L-Isoleucine(DB00167)	AGGATCCACCGGTCTGTAATG	0.448000																								0							SO:0001583	missense			ENST00000375643.3	1	1	hg19	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109921	0.77210	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.19532	2.14;2.14;2.14	5.7	2.68	0.31781	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.213106	0.47093	D	0.000245	T	0.51160	0.1658	H	0.94423	3.535	0.80722	D	1	D;D	0.57257	0.979;0.977	D;P	0.64595	0.927;0.832	T	0.58470	-0.7631	10	0.87932	D	0	-8.1626	8.8918	0.35439	0.0739:0.0:0.5729:0.3532	.	694;539	P41252;Q6P0M4	SYIC_HUMAN;.	W	694;694;584;694	ENSP00000364794:R694W;ENSP00000406448:R694W;ENSP00000415020:R584W	ENSP00000364794:R694W	R	-	1	2	IARS	94058840	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	2.387000	0.44389	0.741000	0.32674	-0.314000	0.08810	CGG		TCGA-IB-7651-01A-11D-2154-08	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	1	0	1	50	259	0	67	1	1	45	172	0	67	2		0	0	0	0	0	2	1	1	48	254	0	67	2								-2.828508	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
IARS	3376	broad.mit.edu	37	9	95032245	95032245	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95032245T>C	ENST00000375643.3	-	13	1492	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	IARS_ENST00000443024.2_Missense_Mutation_p.Y409C|IARS_ENST00000447699.2_Missense_Mutation_p.Y299C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase			35				L-Isoleucine(DB00167)	CACTGCTTTGTAAATTAGAGG	0.478000																								0							SO:0001583	missense			ENST00000375643.3	1	1	hg19	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413486	0.83449	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.39229	1.09;1.09;1.09	5.61	5.61	0.85477	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	H	0.99770	4.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89308	0.3631	10	0.87932	D	0	-14.5538	14.789	0.69824	0.0:0.0:0.0:1.0	.	409;254	P41252;Q6P0M4	SYIC_HUMAN;.	C	409;409;299;409	ENSP00000364794:Y409C;ENSP00000406448:Y409C;ENSP00000415020:Y299C	ENSP00000364794:Y409C	Y	-	2	0	IARS	94072066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.648000	0.83479	2.143000	0.66587	0.533000	0.62120	TAC		TCGA-IB-7651-01A-11D-2154-08	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	1	0	1	39	196	0	52	1	1	53	135	0	52	2		0	0	0	0	0	2	1	1	39	192	0	51	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
IARS	3376	broad.mit.edu	37	9	95043153	95043153	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95043153A>C	ENST00000375643.3	-	7	886	c.620T>G	c.(619-621)tTt>tGt	p.F207C	IARS_ENST00000443024.2_Missense_Mutation_p.F207C|IARS_ENST00000447699.2_Missense_Mutation_p.F97C|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase			35				L-Isoleucine(DB00167)	GAAAGTTACAAATACTGAAGG	0.368000																								0							SO:0001583	missense			ENST00000375643.3	1	0	hg19	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508576	0.85282	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.41	5.41	0.78517	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.052475	0.64402	D	0.000001	D	0.87305	0.6144	M	0.85099	2.735	0.80722	D	1	P;P	0.52170	0.903;0.951	P;P	0.58520	0.796;0.84	D	0.89453	0.3731	10	0.87932	D	0	-22.2468	14.7139	0.69254	1.0:0.0:0.0:0.0	.	207;52	P41252;Q6P0M4	SYIC_HUMAN;.	C	207;207;97;207;207	ENSP00000364794:F207C;ENSP00000406448:F207C;ENSP00000415020:F97C;ENSP00000378922:F207C	ENSP00000364794:F207C	F	-	2	0	IARS	94082974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.756000	0.62205	2.169000	0.68431	0.533000	0.62120	TTT		TCGA-IB-7651-01A-11D-2154-08	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	1	0	0	8	176	0	30	1	9.621188e-01	5	123	0	30	2		0	0	0	0	0	2	1	9.893848e-01	7	175	0	30	2								-11.471270	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.510000	0.240000	0.890000	0.480000	0.534242	0.510000	0	3.500000e-01	7.000000e-01
NOL8	55035	broad.mit.edu	37	9	95069174	95069174	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95069174T>G	ENST00000535387.1	-	9	2704	c.2705A>C	c.(2704-2706)aAa>aCa	p.K902T	NOL8_ENST00000358855.4_Missense_Mutation_p.K872T|NOL8_ENST00000545558.1_Missense_Mutation_p.K940T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T|NOL8_ENST00000442668.2_Missense_Mutation_p.K940T					nucleolar protein 8			16					ATACTTAAATTTCTTAGCAGC	0.343000																								0							SO:0001583	missense			ENST00000535387.1	1	1	hg19	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896931	0.72639	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.55	5.55	0.83447	.	0.249376	0.44902	D	0.000408	T	0.37679	0.1012	L	0.54908	1.71	0.38998	D	0.959286	P;D	0.53312	0.879;0.959	B;P	0.47744	0.36;0.556	T	0.38415	-0.9662	10	0.72032	D	0.01	-25.1845	13.73	0.62781	0.0:0.0:0.0:1.0	.	872;940	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	T	940;904;872;940;902;872;940	ENSP00000401177:K940T;ENSP00000351723:K872T;ENSP00000441140:K940T;ENSP00000441300:K902T;ENSP00000440709:K872T;ENSP00000414112:K940T	ENSP00000351723:K872T	K	-	2	0	NOL8	94108995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.577000	0.36515	2.238000	0.73509	0.477000	0.44152	AAA		TCGA-IB-7651-01A-11D-2154-08	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	1	0	1	116	456	0	136	1	1	28	84	0	136	2		0	0	0	0	0	2	1	1	114	444	0	134	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOL8	55035	broad.mit.edu	37	9	95073540	95073540	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95073540T>C	ENST00000545558.1	-	8	2852	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	NOL8_ENST00000535387.1_Intron|NOL8_ENST00000358855.4_Splice_Site_p.D719G|NOL8_ENST00000542053.1_Splice_Site_p.D719G|NOL8_ENST00000442668.2_Splice_Site_p.D787G					nucleolar protein 8			16					TGGATGACCATCCTAGGGAGG	0.438000																								0							SO:0001630	splice_region_variant			ENST00000545558.1	1	0	hg19	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343763	0.61073	.	.	ENSG00000198000	ENST00000442668;ENST00000358855;ENST00000545558;ENST00000542053;ENST00000432670	T;T;T;T;T	0.52754	2.04;2.04;2.04;2.04;0.65	5.12	5.12	0.69794	.	0.099953	0.64402	D	0.000003	T	0.65678	0.2714	M	0.67953	2.075	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.965	T	0.69363	-0.5165	10	0.72032	D	0.01	-18.7307	13.577	0.61879	0.0:0.0:0.0:1.0	.	719;787	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	G	787;719;787;719;787	ENSP00000401177:D787G;ENSP00000351723:D719G;ENSP00000441140:D787G;ENSP00000440709:D719G;ENSP00000414112:D787G	ENSP00000351723:D719G	D	-	2	0	NOL8	94113361	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	3.488000	0.53229	1.941000	0.56285	0.524000	0.50904	GAT		TCGA-IB-7651-01A-11D-2154-08	NOL8-015	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402684.1	0	0	1	27	106	0	20	1	9.999938e-01	23	59	0	20	2		0	0	0	0	0	2	1	1	27	105	0	20	2								-18.538460	1	1	120796	1	23	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999974	0.990000	1	9.900000e-01	1
NOL8	55035	broad.mit.edu	37	9	95077969	95077969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95077969G>A	ENST00000535387.1	-	6	937	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL8_ENST00000358855.4_Missense_Mutation_p.A245V|NOL8_ENST00000545558.1_Missense_Mutation_p.A313V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V|NOL8_ENST00000442668.2_Missense_Mutation_p.A313V					nucleolar protein 8			16					TTCCTCTTTCGCAATCATCAT	0.368000																								0							SO:0001583	missense			ENST00000535387.1	0	0	hg19	CCDS47993.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	15.25	2.779031	0.49891	2.69E-4	0.003175	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.53640	2.18;2.2;2.18;2.4;2.2;1.91;0.61	5.68	3.77	0.43336	.	0.488728	0.22924	N	0.053997	T	0.32041	0.0816	L	0.38175	1.15	0.27918	N	0.938353	D	0.59767	0.986	P	0.45119	0.47	T	0.23797	-1.0178	10	0.72032	D	0.01	-1.3451	10.2172	0.43175	0.0:0.1172:0.4945:0.3883	.	313	Q76FK4	NOL8_HUMAN	V	313;315;245;313;313;245;313;313	ENSP00000401177:A313V;ENSP00000351723:A245V;ENSP00000441140:A313V;ENSP00000441300:A313V;ENSP00000440709:A245V;ENSP00000414112:A313V;ENSP00000412471:A313V	ENSP00000351723:A245V	A	-	2	0	NOL8	94117790	0.272000	0.24172	0.824000	0.32777	0.633000	0.38033	0.922000	0.28734	0.688000	0.31529	0.650000	0.86243	GCG		TCGA-IB-7651-01A-11D-2154-08	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	1	0	1	13	85	0	18	1	9.952071e-01	12	50	0	18	2		0	0	0	0	0	2	1	9.996084e-01	14	82	0	18	2								-3.574676	1	0	120782	277	53	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.810000	1.000000	1.000000	0.987630	0.990000	1	9.900000e-01	1
NOL8	55035	broad.mit.edu	37	9	95078044	95078044	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95078044A>G	ENST00000535387.1	-	6	862	c.863T>C	c.(862-864)tTg>tCg	p.L288S	NOL8_ENST00000358855.4_Missense_Mutation_p.L220S|NOL8_ENST00000545558.1_Missense_Mutation_p.L288S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S|NOL8_ENST00000442668.2_Missense_Mutation_p.L288S					nucleolar protein 8			16					GGCAGTTTCCAAGCCAGAAGT	0.353000																								0							SO:0001583	missense			ENST00000535387.1	0	1	hg19	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178662	0.21787	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.44482	2.52;2.52;2.52;2.74;2.52;2.26;0.92	5.57	3.22	0.36961	.	1.237480	0.05257	N	0.515005	T	0.26448	0.0646	N	0.19112	0.55	0.09310	N	1	B	0.26195	0.144	B	0.18561	0.022	T	0.21381	-1.0247	10	0.26408	T	0.33	-0.3825	4.0438	0.09763	0.492:0.2688:0.2392:0.0	.	288	Q76FK4	NOL8_HUMAN	S	288;290;220;288;288;220;288;288	ENSP00000401177:L288S;ENSP00000351723:L220S;ENSP00000441140:L288S;ENSP00000441300:L288S;ENSP00000440709:L220S;ENSP00000414112:L288S;ENSP00000412471:L288S	ENSP00000351723:L220S	L	-	2	0	NOL8	94117865	0.003000	0.15002	0.206000	0.23566	0.197000	0.23852	1.841000	0.39240	0.926000	0.37118	0.528000	0.53228	TTG		TCGA-IB-7651-01A-11D-2154-08	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	1	0	1	16	118	0	24	1	9.577735e-01	8	34	0	24	2		0	0	0	0	0	2	1	9.999492e-01	16	117	0	24	2								-19.999990	1	0	120776	1	22	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.800000	1.000000	1.000000	0.985228	0.990000	1	9.900000e-01	1
ECM2	1842	broad.mit.edu	37	9	95277420	95277420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95277420C>A	ENST00000344604.5	-	4	696	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Splice_Site	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific			27					TCTCTTTGTTCTGAAGAATCA	0.403000																								0							SO:0001587	stop_gained			ENST00000344604.5	0	1	hg19	CCDS6698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801349|3.801349	0.70567|0.70567	.|.	.|.	ENSG00000106823|ENSG00000106823	ENST00000444490|ENST00000344604	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.501876	.|0.22979	.|N	.|0.053335	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.46703	.|T	.|0.11	.|.	13.8795|13.8795	0.63674|0.63674	0.0:0.9266:0.0:0.0734|0.0:0.9266:0.0:0.0734	.|.	.|.	.|.	.|.	.|X	-1|183	.|.	.|ENSP00000344758:E183X	.|E	-|-	.|1	.|0	ECM2|ECM2	94317241|94317241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.029000|4.029000	0.57253|0.57253	2.714000|2.714000	0.92807|0.92807	0.650000|0.650000	0.86243|0.86243	.|GAA		TCGA-IB-7651-01A-11D-2154-08	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	1	0	0	75	243	0	55	0	9.997616e-01	0	43	0	55	2		0	0	0	0	0	2	1	1	74	232	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ECM2	1842	broad.mit.edu	37	9	95284865	95284865	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95284865A>G	ENST00000344604.5	-	2	433	c.284T>C	c.(283-285)gTg>gCg	p.V95A	ECM2_ENST00000375540.1_Missense_Mutation_p.V95A|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.V95A	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific			27					ACCTGGTAACACATTATAACT	0.418000																								0							SO:0001583	missense			ENST00000344604.5	0	1	hg19	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089048	0.76756	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.92	4.92	0.64577	.	0.140060	0.47455	D	0.000237	T	0.53883	0.1824	M	0.64997	1.995	0.49687	D	0.999812	D;D;D;D	0.69078	0.962;0.996;0.988;0.997	P;P;P;P	0.61800	0.53;0.787;0.696;0.894	T	0.58446	-0.7635	10	0.87932	D	0	.	14.7117	0.69238	1.0:0.0:0.0:0.0	.	95;95;95;95	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	A	95	ENSP00000393971:V95A;ENSP00000344758:V95A;ENSP00000364690:V95A;ENSP00000378905:V95A	ENSP00000344758:V95A	V	-	2	0	ECM2	94324686	0.987000	0.35691	0.988000	0.46212	0.983000	0.72400	5.813000	0.69201	2.214000	0.71695	0.528000	0.53228	GTG		TCGA-IB-7651-01A-11D-2154-08	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	0	0	0	14	147	0	36	0	9.794989e-01	0	71	0	36	2		0	0	0	0	0	2	1	9.997475e-01	14	142	0	35	2								-19.774230	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.980000	0.570000	1.000000	1.000000	0.908113	0.980000	1	7.600000e-01	1
BICD2	23299	broad.mit.edu	37	9	95481113	95481113	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95481113C>A	ENST00000375512.3	-	5	1881	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	BICD2_ENST00000356884.6_Missense_Mutation_p.S605I	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)			23					CGAGGGGCTGCTGTCCCCCGT	0.677000																								0							SO:0001583	missense			ENST00000375512.3	1	1	hg19	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948065	0.34377	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43688	0.94;0.94	5.18	4.27	0.50696	.	0.256048	0.45606	D	0.000344	T	0.34774	0.0909	L	0.34521	1.04	0.26791	N	0.969393	P;P	0.45474	0.859;0.772	B;P	0.46629	0.387;0.522	T	0.12604	-1.0541	10	0.36615	T	0.2	-22.7187	7.5499	0.27790	0.0:0.8025:0.0:0.1975	.	605;605	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	I	605	ENSP00000349351:S605I;ENSP00000364662:S605I	ENSP00000349351:S605I	S	-	2	0	BICD2	94520934	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	2.114000	0.41911	1.307000	0.44944	0.561000	0.74099	AGC		TCGA-IB-7651-01A-11D-2154-08	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	1	0	0	42	148	0	22	1	9.996996e-01	13	34	0	22	2		0	0	0	0	0	2	1	1	42	145	0	21	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF484	83744	broad.mit.edu	37	9	95609118	95609118	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95609118G>T	ENST00000375495.3	-	5	2099	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.L615I|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I|ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484			33					TGTGTAAAGAGATTTGATCTG	0.423000																								0							SO:0001583	missense			ENST00000375495.3	1	1	hg19	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107570	0.37145	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69922	0.3165	M	0.84846	2.72	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.91635	0.999;0.999	T	0.55829	-0.8079	9	0.62326	D	0.03	.	5.0637	0.14570	0.1664:0.0:0.8336:0.0	.	653;651	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	615;653;651;615	ENSP00000378881:L615I;ENSP00000378882:L653I;ENSP00000364645:L651I;ENSP00000364646:L615I	ENSP00000364646:L615I	L	-	1	0	ZNF484	94648939	0.999000	0.42202	1.000000	0.80357	0.905000	0.53344	3.262000	0.51538	1.622000	0.50330	0.551000	0.68910	CTC		TCGA-IB-7651-01A-11D-2154-08	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	1	0	0	38	389	0	63	1	3.332366e-01	2	11	0	63	2		0	0	0	0	0	2	1	1	38	383	0	63	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.730000	1.000000	1.000000	0.949782	0.990000	1	8.600000e-01	1
ZNF484	83744	broad.mit.edu	37	9	95610117	95610117	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95610117G>A	ENST00000375495.3	-	5	1100	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R282C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C|ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484			33					GTTTTCTGACGGTTTGACTTG	0.428000																								0							SO:0001583	missense			ENST00000375495.3	1	1	hg19	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	6.193	0.403864	0.11754	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.37;3.39;3.23	2.44	1.53	0.23141	.	.	.	.	.	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	P;P	0.46327	0.876;0.876	B;B	0.34452	0.183;0.118	T	0.34304	-0.9834	9	0.87932	D	0	.	8.5598	0.33503	0.0:0.0:0.7684:0.2316	.	320;318	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	282;320;318;282	ENSP00000378881:R282C;ENSP00000378882:R320C;ENSP00000364645:R318C;ENSP00000364646:R282C	ENSP00000364646:R282C	R	-	1	0	ZNF484	94649938	0.000000	0.05858	0.044000	0.18714	0.170000	0.22686	-0.166000	0.09954	0.585000	0.29608	-0.172000	0.13284	CGT		TCGA-IB-7651-01A-11D-2154-08	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	1	0	1	67	331	0	94	1	6.266634e-01	3	9	0	94	2		0	0	0	0	0	2	1	1	67	326	0	93	2								-2.500372	1	1	121412	4	36	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NINJ1	4814	broad.mit.edu	37	9	95888858	95888858	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95888858G>A	ENST00000375446.4	-	2	208	c.138C>T	c.(136-138)agC>agT	p.S46S	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1			4					TCTCGGCTGCGCTCTTCTTGC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000375446.4	0	1	hg19	CCDS6703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	0	0	0	11	484	0	88	1	6.846977e-01	2	101	0	88	2		0	0	0	0	0	2	1	9.981913e-01	10	476	0	88	2								-3.166626	1	0	121410	8	41	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.250000	0.130000	0.430000	0.250000	0.272577	0.250000	0	1.900000e-01	3.500000e-01
WNK2	65268	broad.mit.edu	37	9	95947834	95947834	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95947834C>T	ENST00000297954.4	+	1	623	c.623C>T	c.(622-624)aCg>aTg	p.T208M	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2			54					TCCTTCAAGACGGTCTACAAG	0.667000																								0							SO:0001583	missense			ENST00000297954.4	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.932178|3.932178	0.73442|0.73442	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27	4.34|4.34	4.34|4.34	0.51931|0.51931	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.77287|0.77287	0.4108|0.4108	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.80564|0.80564	-0.1326|-0.1326	5|10	.|0.87932	.|D	.|0	.|.	16.8414|16.8414	0.85970|0.85970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|208;208;208;208	.|Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	W|M	204|208;208;208;194	.|ENSP00000412465:T208M;ENSP00000297954:T208M;ENSP00000378860:T208M;ENSP00000378858:T194M	.|ENSP00000297954:T208M	R|T	+|+	1|2	2|0	WNK2|WNK2	94987655|94987655	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	5.818000|5.818000	0.69236|0.69236	2.132000|2.132000	0.65825|0.65825	0.561000|0.561000	0.74099|0.74099	CGG|ACG		TCGA-IB-7651-01A-11D-2154-08	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	1	0	1	23	119	0	23	0	5.614079e-01	1	10	0	23	2		0	0	0	0	0	2	1	9.999996e-01	23	116	0	22	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999515	0.990000	1	9.900000e-01	1
WNK2	65268	broad.mit.edu	37	9	96031161	96031161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96031161G>A	ENST00000297954.4	+	19	4073	c.4073G>A	c.(4072-4074)cGc>cAc	p.R1358H	WNK2_ENST00000427277.2_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000349097.3_Missense_Mutation_p.R970H|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2			54					CTCCCATGGCGCAGAGCAGCC	0.592000																								0							SO:0001583	missense			ENST00000297954.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.288	1.049891	0.19827	.	.	ENSG00000165238	ENST00000297954;ENST00000349097	T;T	0.32515	1.45;1.45	3.71	-5.99	0.02213	.	4.641330	0.00166	N	0.000016	T	0.15696	0.0378	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08806	-1.0704	9	0.34782	T	0.22	.	1.1838	0.01850	0.1995:0.1365:0.3616:0.3024	.	1358	Q9Y3S1	WNK2_HUMAN	H	1358;970	ENSP00000297954:R1358H;ENSP00000297876:R970H	ENSP00000297954:R1358H	R	+	2	0	WNK2	95070982	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.454000	0.02381	-1.097000	0.03042	-2.087000	0.00375	CGC		TCGA-IB-7651-01A-11D-2154-08	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	0	0	0	5	31	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	9.377759e-01	5	30	0	12	2								-11.491550	1	1	119042	37	44	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.550000	1.000000	1.000000	0.946792	0.990000	1	8.700000e-01	1
WNK2	65268	broad.mit.edu	37	9	96051635	96051635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96051635G>A	ENST00000297954.4	+	20	4710	c.4710G>A	c.(4708-4710)tcG>tcA	p.S1570S	WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2			54					CCCTGGAGTCGGATGGGGAAG	0.701000																								0							SO:0001819	synonymous_variant			ENST00000297954.4	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.503|0.503	-0.869937|-0.869937	0.02570|0.02570	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251;ENST00000453718	.|.	.|.	.|.	5.32|5.32	-10.6|-10.6	0.00265|0.00265	.|.	.|.	.|.	.|.	.|.	T|T	0.48370|0.48370	0.1496|0.1496	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66590|0.66590	-0.5885|-0.5885	4|4	.|.	.|.	.|.	.|.	10.4564|10.4564	0.44553|0.44553	0.1629:0.0:0.3035:0.5336|0.1629:0.0:0.3035:0.5336	.|.	.|.	.|.	.|.	R|Q	1137|1529;330;56	.|.	.|.	G|R	+|+	1|2	0|0	WNK2|WNK2	95091456|95091456	0.000000|0.000000	0.05858|0.05858	0.137000|0.137000	0.22149|0.22149	0.154000|0.154000	0.21943|0.21943	-4.704000|-4.704000	0.00196|0.00196	-3.903000|-3.903000	0.00093|0.00093	-1.618000|-1.618000	0.00794|0.00794	GGA|CGG		TCGA-IB-7651-01A-11D-2154-08	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	1	0	0	10	99	0	18	0	2.619892e-01	0	10	0	18	2		0	0	0	0	0	2	1	9.969124e-01	10	96	0	17	2								-16.206660	1	1	121240	2	27	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.540000	1.000000	1.000000	0.912211	0.990000	1	7.600000e-01	1
WNK2	65268	broad.mit.edu	37	9	96061420	96061420	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96061420G>A	ENST00000297954.4	+	25	6103	c.6103G>A	c.(6103-6105)Gca>Aca	p.A2035T	WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T|WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2			54					GGGGCTCACTGCAGACAGCAC	0.672000																								0							SO:0001583	missense			ENST00000297954.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.05	1.821450	0.32237	.	.	ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	T;T;T;T	0.71579	-0.58;-0.57;0.04;0.04	4.1	4.1	0.47936	.	0.360403	0.29515	N	0.011924	T	0.79299	0.4422	L	0.53249	1.67	0.26252	N	0.978704	D;D;D;D	0.63880	0.991;0.993;0.988;0.993	P;D;D;D	0.77557	0.641;0.977;0.99;0.956	T	0.70684	-0.4804	10	0.54805	T	0.06	.	12.3721	0.55260	0.0:0.0:0.7483:0.2517	.	1998;1993;1998;2035	Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	T	2035;1998;1647;1610	ENSP00000297954:A2035T;ENSP00000378860:A1998T;ENSP00000297876:A1647T;ENSP00000411181:A1610T	ENSP00000297954:A2035T	A	+	1	0	WNK2	95101241	0.082000	0.21442	0.263000	0.24496	0.584000	0.36387	1.764000	0.38471	1.841000	0.53522	0.655000	0.94253	GCA		TCGA-IB-7651-01A-11D-2154-08	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	1	0	1	20	155	0	35	0	4.188428e-01	0	12	0	35	2		0	0	0	0	0	2	1	9.999963e-01	20	153	0	35	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.820000	1.000000	1.000000	0.986698	0.990000	1	9.900000e-01	1
FAM120A	23196	broad.mit.edu	37	9	96233472	96233472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96233472G>A	ENST00000277165.6	+	2	718	c.524G>A	c.(523-525)aGa>aAa	p.R175K	FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K|FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A			34					GGTTTCTGCAGAGAGAATGGT	0.463000																								0							SO:0001583	missense			ENST00000277165.6	1	1	hg19	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982898|4.982898	0.93044|0.93044	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.50333|0.50333	1.59|1.59	0.44825|0.44825	D|D	0.997839|0.997839	.|B;D	.|0.56035	.|0.394;0.974	.|B;P	.|0.60541	.|0.187;0.876	T|T	0.63703|0.63703	-0.6577|-0.6577	5|10	.|0.72032	.|D	.|0.01	-14.9215|-14.9215	19.1566|19.1566	0.93514|0.93514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|175;175	.|Q9NZB2;Q9NZB2-2	.|F120A_HUMAN;.	K|K	18|175	.|ENSP00000364538:R175K;ENSP00000277165:R175K;ENSP00000334918:R175K;ENSP00000344698:R175K	.|ENSP00000277165:R175K	E|R	+|+	1|2	0|0	FAM120A|FAM120A	95273293|95273293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.697000|7.697000	0.84279|0.84279	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	GAG|AGA		TCGA-IB-7651-01A-11D-2154-08	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	1	0	1	66	285	0	90	1	1	13	221	0	90	2		0	0	0	0	0	2	1	1	65	282	0	89	2								-2.932801	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF2	5253	broad.mit.edu	37	9	96392276	96392276	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96392276G>A	ENST00000359246.4	+	2	490	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PHF2_ENST00000375376.4_Silent_p.E41E	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2			40		Myeloproliferative disorder(762;0.0255)			AAGAGGAGGAGGCGCCCGACA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000359246.4	1	1	hg19	CCDS35069.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	1	0	0	72	415	0	98	1	9.967808e-01	6	46	0	98	2		0	0	0	0	0	2	1	1	70	412	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHF2	5253	broad.mit.edu	37	9	96425295	96425295	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96425295A>G	ENST00000359246.4	+	13	2172	c.1805A>G	c.(1804-1806)aAg>aGg	p.K602R	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2			40		Myeloproliferative disorder(762;0.0255)			TCAGAGGCCAAGTGGAAGTAC	0.502000																								0							SO:0001583	missense			ENST00000359246.4	0	1	hg19	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	a	13.00	2.107668	0.37242	.	.	ENSG00000197724	ENST00000359246	T	0.20200	2.09	3.99	3.99	0.46301	.	0.050265	0.85682	D	0.000000	T	0.15478	0.0373	L	0.42245	1.32	0.80722	D	1	B;P	0.38922	0.023;0.651	B;B	0.30401	0.015;0.115	T	0.07121	-1.0789	10	0.23302	T	0.38	-18.2991	13.0498	0.58948	1.0:0.0:0.0:0.0	.	20;602	Q8N359;O75151	.;PHF2_HUMAN	R	602	ENSP00000352185:K602R	ENSP00000352185:K602R	K	+	2	0	PHF2	95465116	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.247000	0.89830	1.670000	0.50864	0.248000	0.18094	AAG		TCGA-IB-7651-01A-11D-2154-08	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	0	0	0	7	249	0	69	0	8.168179e-01	0	113	0	69	2		0	0	0	0	0	2	1	9.784200e-01	7	240	0	69	2								-3.613404	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.320000	0.140000	0.590000	0.310000	0.346144	0.320000	0	2.200000e-01	4.600000e-01
PHF2	5253	broad.mit.edu	37	9	96429501	96429501	+	Missense_Mutation	SNP	C	C	T	rs148853252	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96429501C>T	ENST00000359246.4	+	17	2694	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2			40		Myeloproliferative disorder(762;0.0255)			GAGGTTGGCGCGCTGGAGTAC	0.677000																								0							SO:0001583	missense			ENST00000359246.4	0	0	hg19	CCDS35069.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	14.70	2.613863	0.46631	2.27E-4	0.0	ENSG00000197724	ENST00000359246	T	0.18502	2.21	4.99	3.02	0.34903	.	0.114508	0.64402	D	0.000016	T	0.08403	0.0209	N	0.08118	0	0.80722	D	1	D;P	0.62365	0.991;0.955	P;B	0.47044	0.535;0.284	T	0.14090	-1.0485	10	0.49607	T	0.09	-10.5163	13.6953	0.62575	0.0:0.3692:0.6308:0.0	.	195;776	Q8N359;O75151	.;PHF2_HUMAN	V	776	ENSP00000352185:A776V	ENSP00000352185:A776V	A	+	2	0	PHF2	95469322	1.000000	0.71417	0.201000	0.23476	0.338000	0.28826	5.413000	0.66399	1.050000	0.40346	0.298000	0.19748	GCG		TCGA-IB-7651-01A-11D-2154-08	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	1	0	1	17	109	0	18	1	9.970829e-01	15	50	0	18	2		0	0	0	0	0	2	1	9.999754e-01	17	108	0	17	2								-20.000000	1	0	121216	2	32	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.900000	1.000000	1.000000	0.994115	0.990000	1	9.900000e-01	1
PHF2	5253	broad.mit.edu	37	9	96435918	96435918	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96435918C>T	ENST00000359246.4	+	18	2767	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2			40		Myeloproliferative disorder(762;0.0255)			GAATGCTGTCCATGGCCAACC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000359246.4	1	1	hg19	CCDS35069.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	1	0	1	42	225	0	54	1	9.997276e-01	10	59	0	54	2		0	0	0	0	0	2	1	1	42	220	0	54	2								-3.240533	1	1	121396	6	37	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
PTPDC1	138639	broad.mit.edu	37	9	96859904	96859904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96859904C>A	ENST00000375360.3	+	7	1234	c.894C>A	c.(892-894)gaC>gaA	p.D298E	PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1			32					TGCTGCTGGACTTAGCGGAGA	0.463000																								0							SO:0001583	missense			ENST00000375360.3	1	1	hg19	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939996	0.52972	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12672	2.66;2.66	5.64	2.78	0.32641	.	0.041854	0.85682	D	0.000000	T	0.20088	0.0483	M	0.69823	2.125	0.42409	D	0.992596	P;P;B;P	0.41929	0.765;0.532;0.264;0.584	P;B;B;B	0.44359	0.447;0.348;0.132;0.351	T	0.04413	-1.0953	10	0.62326	D	0.03	-24.5012	10.5814	0.45257	0.0:0.7951:0.0:0.2049	.	352;350;352;298	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	E	298;350	ENSP00000364509:D298E;ENSP00000288976:D350E	ENSP00000288976:D350E	D	+	3	2	PTPDC1	95899725	0.995000	0.38212	1.000000	0.80357	0.911000	0.54048	0.749000	0.26320	1.384000	0.46424	0.655000	0.94253	GAC		TCGA-IB-7651-01A-11D-2154-08	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	1	0	0	22	451	0	90	0	2.707209e-01	0	21	0	90	2		0	0	0	0	0	2	1	9.999987e-01	22	446	0	89	2								-19.997170	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.530000	0.340000	0.760000	0.530000	0.546319	0.530000	0	4.300000e-01	6.500000e-01
PTPDC1	138639	broad.mit.edu	37	9	96860214	96860214	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860214G>A	ENST00000375360.3	+	7	1544	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E454K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1			32					AAAGAGGGCCGAGAACCTCCT	0.527000																								0							SO:0001583	missense			ENST00000375360.3	1	1	hg19	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333160	0.24167	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.12984	2.64;2.63	5.52	3.64	0.41730	.	0.187387	0.56097	N	0.000026	T	0.11324	0.0276	L	0.47716	1.5	0.18873	N	0.999986	B;B;B;B	0.19445	0.021;0.036;0.021;0.021	B;B;B;B	0.13407	0.004;0.009;0.004;0.004	T	0.32955	-0.9887	10	0.15066	T	0.55	-12.7677	9.6524	0.39906	0.0779:0.1424:0.7797:0.0	.	456;454;456;402	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	402;454	ENSP00000364509:E402K;ENSP00000288976:E454K	ENSP00000288976:E454K	E	+	1	0	PTPDC1	95900035	0.998000	0.40836	0.014000	0.15608	0.642000	0.38348	3.373000	0.52394	0.660000	0.30964	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	1	0	1	38	233	0	59	1	8.654421e-01	3	21	0	59	2		0	0	0	0	0	2	1	1	37	225	0	59	2								-3.145436	1	1	121412	2	32	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999816	0.990000	1	9.900000e-01	1
PTPDC1	138639	broad.mit.edu	37	9	96860569	96860569	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860569A>G	ENST00000375360.3	+	7	1899	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Q572R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1			32					CCTGCTCACCAGCAAGTGTCT	0.552000																								0							SO:0001583	missense			ENST00000375360.3	1	1	hg19	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	5.806	0.333069	0.11013	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.46451	0.87;0.87	6.06	3.62	0.41486	.	0.653390	0.16932	N	0.193629	T	0.27866	0.0686	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.30966	-0.9960	10	0.10111	T	0.7	-4.0139	2.7677	0.05325	0.6194:0.155:0.0776:0.148	.	574;572;574;520	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	R	520;572	ENSP00000364509:Q520R;ENSP00000288976:Q572R	ENSP00000288976:Q572R	Q	+	2	0	PTPDC1	95900390	0.550000	0.26489	0.079000	0.20413	0.606000	0.37113	2.715000	0.47210	0.474000	0.27392	0.533000	0.62120	CAG		TCGA-IB-7651-01A-11D-2154-08	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	0	0	0	14	488	0	116	0	1.928361e-01	1	26	0	116	2		0	0	0	0	0	2	1	9.997155e-01	14	476	0	116	2								-12.742750	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.320000	0.180000	0.510000	0.310000	0.336045	0.320000	0	2.400000e-01	4.200000e-01
HIATL1	84641	broad.mit.edu	37	9	97220650	97220650	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97220650C>T	ENST00000375344.3	+	11	1442	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	HIATL1_ENST00000428393.2_Missense_Mutation_p.P294S	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1			11		Acute lymphoblastic leukemia(62;0.136)			TATGCAATGGCCTGGGGCCAG	0.448000													Pancreas(77;1260 1915 1973 10423)											0							SO:0001819	synonymous_variant			ENST00000375344.3	1	1	hg19	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718586	0.30503	.	.	ENSG00000148110	ENST00000277183;ENST00000428393	T	0.50001	0.76	5.0	4.07	0.47477	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.26123	N	0.980522	B	0.02656	0.0	B	0.04013	0.001	T	0.27434	-1.0074	8	0.87932	D	0	-8.4171	5.6709	0.17721	0.0:0.6882:0.1983:0.1135	.	294	B4DUE6	.	S	96;294	ENSP00000405909:P294S	ENSP00000277183:P96S	P	+	1	0	HIATL1	96260471	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.664000	0.25068	1.395000	0.46643	0.655000	0.94253	CCT		TCGA-IB-7651-01A-11D-2154-08	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	0	0	1	71	381	0	120	1	1	19	156	0	120	2		0	0	0	0	0	2	1	1	71	369	0	119	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBP2	8789	broad.mit.edu	37	9	97321313	97321313	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97321313C>A	ENST00000375337.3	-	7	993	c.927G>T	c.(925-927)gaG>gaT	p.E309D	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2			9		Acute lymphoblastic leukemia(62;0.136)			GGTGAATTGCCTCGGGCTTCA	0.572000																								0							SO:0001583	missense			ENST00000375337.3	1	1	hg19	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722736	0.30503	.	.	ENSG00000130957	ENST00000375337	T	0.72051	-0.62	5.54	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	L	0.46947	1.48	0.42638	D	0.993408	B	0.02656	0.0	B	0.06405	0.002	T	0.55198	-0.8178	10	0.38643	T	0.18	0.0724	10.6656	0.45728	0.0:0.651:0.0:0.349	.	309	O00757	F16P2_HUMAN	D	309	ENSP00000364486:E309D	ENSP00000364486:E309D	E	-	3	2	FBP2	96361134	0.005000	0.15991	0.147000	0.22382	0.744000	0.42396	0.135000	0.15952	0.457000	0.26962	0.655000	0.94253	GAG		TCGA-IB-7651-01A-11D-2154-08	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	1	0	1	70	337	0	81	1	1.425099e-01	2	2	0	81	2		0	0	0	0	0	2	1	1	68	326	0	81	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C9orf3	84909	broad.mit.edu	37	9	97563133	97563133	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97563133C>A	ENST00000375315.2	+	4	1213	c.1213C>A	c.(1213-1215)Cct>Act	p.P405T	C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T|C9orf3_ENST00000297979.5_Missense_Mutation_p.P405T|C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3			23					GGTCTTTGCCCCTGTGTGCCT	0.582000																								0							SO:0001583	missense			ENST00000375315.2	1	1	hg19	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062172	0.55432	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000395357	T;T;T;T;T;T	0.04970	4.31;3.52;3.52;3.52;3.52;4.31	5.28	5.28	0.74379	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.76575	0.948;0.967;0.988;0.956	T	0.00070	-1.2134	10	0.37606	T	0.19	-11.1188	12.4307	0.55573	0.0:0.924:0.0:0.076	.	405;405;405;405	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	T	405;405;405;228;187;25	ENSP00000277198:P405T;ENSP00000297979:P405T;ENSP00000364464:P405T;ENSP00000402171:P228T;ENSP00000401854:P187T;ENSP00000378763:P25T	ENSP00000277198:P405T	P	+	1	0	C9orf3	96602954	1.000000	0.71417	0.998000	0.56505	0.250000	0.25880	3.533000	0.53561	2.747000	0.94245	0.650000	0.86243	CCT		TCGA-IB-7651-01A-11D-2154-08	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	62	381	0	76	1	9.873640e-01	16	28	0	76	2		0	0	0	0	0	2	1	1	60	376	0	74	2								-2.774983	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999992	0.990000	1	9.900000e-01	1
DMRT3	58524	broad.mit.edu	37	9	977109	977109	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:977109C>T	ENST00000190165.2	+	1	146	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3			26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)			GCAACCATGGCGTCCTGTCCT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000190165.2	0	1	hg19	CCDS6443.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	0	0	0	8	85	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	9.895245e-01	8	83	0	20	2								-13.468980	1	1	0	0		1	0	0	0	1.928190	0	0.170000	2.060000	1.407867e-01	0.950000	0.470000	1.000000	1.000000	0.875087	0.950000	1	6.800000e-01	1
FANCC	2176	broad.mit.edu	37	9	97879632	97879632	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97879632G>A	ENST00000289081.3	-	11	1291	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	FANCC_ENST00000375305.1_Missense_Mutation_p.P346L|RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000464653.1_5'UTR	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C			3		Acute lymphoblastic leukemia(62;0.138)			GGCAAGAGATGGAGAAGTGTA	0.458000			D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia C	9	9q22.3	2176	Fanconi anemia, complementation group C		L	0							SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000289081.3	1	1	hg19	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864764	0.51482	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.54675	0.56;0.56	5.65	5.65	0.86999	.	0.330468	0.33980	N	0.004380	T	0.53997	0.1831	M	0.67953	2.075	0.21416	N	0.999698	D	0.56521	0.976	P	0.46419	0.516	T	0.59257	-0.7488	10	0.59425	D	0.04	-7.3384	9.5099	0.39071	0.0:0.1275:0.6774:0.1952	.	346	Q00597	FANCC_HUMAN	L	346	ENSP00000289081:P346L;ENSP00000364454:P346L	ENSP00000289081:P346L	P	-	2	0	FANCC	96919453	0.882000	0.30256	0.325000	0.25375	0.484000	0.33280	2.583000	0.46094	2.941000	0.99782	0.655000	0.94253	CCA		TCGA-IB-7651-01A-11D-2154-08	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	1	0	1	19	125	0	34	0	7.373579e-01	0	19	0	34	2		0	0	0	0	0	2	1	9.999922e-01	19	121	0	34	2								-3.151657	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.910000	1.000000	1.000000	0.994903	0.990000	1	9.900000e-01	1
PTCH1	5727	broad.mit.edu	37	9	98209400	98209400	+	Missense_Mutation	SNP	C	C	T	rs111481152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98209400C>T	ENST00000331920.6	-	23	4437	c.4138G>A	c.(4138-4140)Gcc>Acc	p.A1380T	PTCH1_ENST00000430669.2_Missense_Mutation_p.A1314T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1			490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)			GGGTGCACGGCGACAGTCACG	0.687000																								0							SO:0001583	missense			ENST00000331920.6	1	1	hg19	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744437	0.69418	0.0	1.16E-4	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.93426	-3.21;-3.17;-3.18;-3.18;-3.17;-3.18;-3.22	5.12	5.12	0.69794	.	0.052411	0.85682	D	0.000000	D	0.93697	0.7986	L	0.55481	1.735	0.80722	D	1	P;D;D	0.60160	0.943;0.987;0.978	B;P;B	0.49637	0.399;0.617;0.413	D	0.94295	0.7532	10	0.72032	D	0.01	-22.9428	18.7592	0.91843	0.0:1.0:0.0:0.0	.	1314;1379;1380	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	T	1380;1314;1229;1229;1314;172;1229;1379	ENSP00000332353:A1380T;ENSP00000389744:A1314T;ENSP00000399981:A1229T;ENSP00000396135:A1229T;ENSP00000410287:A1314T;ENSP00000414823:A1229T;ENSP00000364423:A1379T	ENSP00000332353:A1380T	A	-	1	0	PTCH1	97249221	1.000000	0.71417	0.075000	0.20258	0.104000	0.19210	7.608000	0.82898	2.659000	0.90383	0.655000	0.94253	GCC		TCGA-IB-7651-01A-11D-2154-08	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	0	0	0	18	489	0	56	0	4.481938e-01	0	41	0	56	2		0	0	0	0	0	2	1	9.999771e-01	17	476	0	55	2								-16.489720	1	1	121240	2	39	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.400000	0.250000	0.610000	0.400000	0.421525	0.400000	0	3.200000e-01	5.100000e-01
PTCH1	5727	broad.mit.edu	37	9	98211451	98211451	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98211451C>T	ENST00000331920.6	-	22	4003	c.3704G>A	c.(3703-3705)aGc>aAc	p.S1235N	PTCH1_ENST00000430669.2_Missense_Mutation_p.S1169N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1084N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1			490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)			AAGCTCCTCGCTGAGGCCTGA	0.657000																								0							SO:0001583	missense			ENST00000331920.6	0	1	hg19	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434805	0.83885	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90676	-2.71;-2.7;-2.68;-2.68;-2.7;-2.68;-2.71	5.95	5.05	0.67936	.	0.079218	0.85682	D	0.000000	D	0.91209	0.7230	L	0.60455	1.87	0.58432	D	0.999998	P;D;D	0.56746	0.899;0.977;0.961	P;P;B	0.49829	0.528;0.623;0.419	D	0.90167	0.4232	10	0.34782	T	0.22	-27.1213	16.7747	0.85548	0.1298:0.8702:0.0:0.0	.	1169;1234;1235	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	N	1235;1169;1084;1084;1169;27;1084;1234	ENSP00000332353:S1235N;ENSP00000389744:S1169N;ENSP00000399981:S1084N;ENSP00000396135:S1084N;ENSP00000410287:S1169N;ENSP00000414823:S1084N;ENSP00000364423:S1234N	ENSP00000332353:S1235N	S	-	2	0	PTCH1	97251272	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.897000	0.69831	1.517000	0.48917	0.655000	0.94253	AGC		TCGA-IB-7651-01A-11D-2154-08	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	0	0	0	4	106	0	20	0	3.765305e-01	1	29	0	20	2		0	0	0	0	0	2	1	8.895698e-01	4	105	0	20	2								-7.557180	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.440000	0.150000	0.920000	0.400000	0.480663	0.440000	0	2.700000e-01	6.800000e-01
PTCH1	5727	broad.mit.edu	37	9	98212127	98212127	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98212127G>T	ENST00000331920.6	-	21	3844	c.3545C>A	c.(3544-3546)cCt>cAt	p.P1182H	PTCH1_ENST00000430669.2_Missense_Mutation_p.P1116H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1			490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)			ACTGACCTCAGGATATGGTCC	0.537000																								0							SO:0001583	missense			ENST00000331920.6	1	1	hg19	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257690	0.80246	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90900	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	L	0.60455	1.87	0.80722	D	1	P;D;B	0.89917	0.767;1.0;0.409	P;D;B	0.74348	0.561;0.983;0.082	D	0.94148	0.7403	10	0.54805	T	0.06	-15.707	19.4381	0.94806	0.0:0.0:1.0:0.0	.	1116;1181;1182	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	1182;1116;1031;1031;1116;1031;1181	ENSP00000332353:P1182H;ENSP00000389744:P1116H;ENSP00000399981:P1031H;ENSP00000396135:P1031H;ENSP00000410287:P1116H;ENSP00000414823:P1031H;ENSP00000364423:P1181H	ENSP00000332353:P1182H	P	-	2	0	PTCH1	97251948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.606000	0.88127	0.561000	0.74099	CCT		TCGA-IB-7651-01A-11D-2154-08	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	1	0	0	36	142	0	44	0	9.635831e-01	1	23	0	44	2		0	0	0	0	0	2	1	1	35	139	0	43	2								-3.674628	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
PTCH1	5727	broad.mit.edu	37	9	98239123	98239123	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98239123G>T	ENST00000331920.6	-	11	1819	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	PTCH1_ENST00000430669.2_Missense_Mutation_p.A441D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1			490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)			AACACCAAGAGCGAGAAATGG	0.428000																								0							SO:0001583	missense			ENST00000331920.6	1	1	hg19	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122708	0.77436	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.998	D	0.98834	1.0752	10	0.87932	D	0	-17.953	16.6136	0.84901	0.0:0.13:0.87:0.0	.	356;441;506;507	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	D	507;441;356;356;441;356;506;172	ENSP00000332353:A507D;ENSP00000389744:A441D;ENSP00000399981:A356D;ENSP00000396135:A356D;ENSP00000410287:A441D;ENSP00000414823:A356D;ENSP00000364423:A506D;ENSP00000364420:A172D	ENSP00000332353:A507D	A	-	2	0	PTCH1	97278944	1.000000	0.71417	0.946000	0.38457	0.550000	0.35303	9.263000	0.95617	1.562000	0.49601	0.655000	0.94253	GCT		TCGA-IB-7651-01A-11D-2154-08	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	1	0	1	20	122	0	32	1	9.115913e-01	4	24	0	32	2		0	0	0	0	0	2	1	9.999967e-01	19	121	0	32	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.970000	1.000000	1.000000	0.997336	0.990000	1	9.900000e-01	1
HSD17B3	3293	broad.mit.edu	37	9	98997811	98997811	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98997811G>A	ENST00000375263.3	-	11	911	c.864C>T	c.(862-864)agC>agT	p.S288S	AL160269.1_ENST00000577254.1_RNA|HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.S238S	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3			13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			GGAAGGCACCGCTGTAGAAGG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000375263.3	1	1	hg19	CCDS6716.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	1	0	1	20	127	0	33	0	0	0	1	0	33	2		0	0	0	0	0	2	1	9.999964e-01	20	124	0	32	2								-11.674510	1	1	121412	5	35	1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.940000	1.000000	1.000000	0.996517	0.990000	1	9.900000e-01	1
HABP4	22927	broad.mit.edu	37	9	99220689	99220689	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99220689G>T	ENST00000375249.4	+	2	453	c.378G>T	c.(376-378)gaG>gaT	p.E126D	HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	NM_014282.2	NP_055097.2			hyaluronan binding protein 4			13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)			GAAGAGGGGAGCAGCAAGGAT	0.527000																								0							SO:0001583	missense			ENST00000375249.4	1	1	hg19	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380545	0.42207	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.35973	1.28;1.47	4.58	4.58	0.56647	.	0.428708	0.25329	N	0.031444	T	0.39009	0.1062	L	0.31476	0.935	0.35363	D	0.78836	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.978	T	0.43605	-0.9381	10	0.17369	T	0.5	-14.568	5.418	0.16384	0.2457:0.0:0.7543:0.0	.	126;126	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	D	126	ENSP00000364400:E126D;ENSP00000364398:E126D	ENSP00000364398:E126D	E	+	3	2	HABP4	98260510	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.657000	0.37366	2.375000	0.81037	0.563000	0.77884	GAG		TCGA-IB-7651-01A-11D-2154-08	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	0	0	0	16	601	0	122	0	1.808813e-01	1	27	0	122	2		0	0	0	0	0	2	1	9.999231e-01	16	590	0	122	2								-3.313798	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.290000	0.170000	0.460000	0.300000	0.310778	0.290000	0	2.300000e-01	3.800000e-01
CDC14B	8555	broad.mit.edu	37	9	99266070	99266070	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99266070G>A	ENST00000375241.1	-	14	1913	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	CDC14B_ENST00000375242.3_Splice_Site_p.L451F|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375240.3_Splice_Site_p.L449F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B			15		Acute lymphoblastic leukemia(62;0.0559)			GAAATGGAGAGACTACAGGGG	0.398000																								0							SO:0001630	splice_region_variant			ENST00000375241.1	1	0	hg19	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089961	0.08632	.	.	ENSG00000081377	ENST00000375241;ENST00000375240;ENST00000375242	D;D;D	0.91996	-2.94;-2.95;-2.93	4.88	4.88	0.63580	.	0.552057	0.17597	N	0.168548	D	0.85733	0.5765	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28998	0.23;0.044;0.008	B;B;B	0.31390	0.129;0.023;0.002	T	0.81185	-0.1048	10	0.10111	T	0.7	0.3137	15.3465	0.74343	0.0:0.0:1.0:0.0	.	449;488;451	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	F	488;449;451	ENSP00000364389:L488F;ENSP00000364388:L449F;ENSP00000364390:L451F	ENSP00000364388:L449F	L	-	1	0	CDC14B	98305891	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.977000	0.70492	2.537000	0.85549	0.557000	0.71058	CTC		TCGA-IB-7651-01A-11D-2154-08	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	1	0	1	69	284	0	56	1	9.602167e-01	4	20	0	56	2		0	0	0	0	0	2	1	1	67	279	0	55	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF510	22869	broad.mit.edu	37	9	99521177	99521177	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99521177T>C	ENST00000375231.1	-	6	2585	c.1935A>G	c.(1933-1935)atA>atG	p.I645M	ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510			21		Acute lymphoblastic leukemia(62;0.0527)			TCCTTTGATGTATTCTGAGGT	0.383000																								0							SO:0001583	missense			ENST00000375231.1	1	1	hg19	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970517	0.34754	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.18016	2.24;2.24	3.02	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	L	0.35249	1.045	0.09310	N	0.999997	P	0.46277	0.875	P	0.44732	0.459	T	0.10660	-1.0620	9	0.45353	T	0.12	.	5.6042	0.17371	0.2439:0.0:0.0:0.7561	.	645	Q9Y2H8	ZN510_HUMAN	M	645	ENSP00000364379:I645M;ENSP00000223428:I645M	ENSP00000223428:I645M	I	-	3	3	ZNF510	98560998	0.000000	0.05858	0.895000	0.35142	0.902000	0.53008	-1.884000	0.01622	1.613000	0.50231	0.533000	0.62120	ATA		TCGA-IB-7651-01A-11D-2154-08	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	1	0	1	125	585	0	146	1	9.893369e-01	7	28	0	146	2		0	0	0	0	0	2	1	1	121	576	1	145	17								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF782	158431	broad.mit.edu	37	9	99580223	99580223	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99580223T>G	ENST00000481138.1	-	6	2743	c.2082A>C	c.(2080-2082)aaA>aaC	p.K694N	ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782			33		Acute lymphoblastic leukemia(62;0.0527)			CTGGGTGGGCTTTCTGATGTT	0.388000																								0							SO:0001583	missense			ENST00000481138.1	1	1	hg19	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.27|14.27	2.484678|2.484678	0.44147|0.44147	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.16457|.	2.34;2.34|.	2.87|2.87	-0.0922|-0.0922	0.13658|0.13658	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.42086|0.42086	0.1187|0.1187	M|M	0.63169|0.63169	1.94|1.94	0.20403|0.20403	N|N	0.999904|0.999904	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	T|T	0.36383|0.36383	-0.9750|-0.9750	9|5	0.87932|.	D|.	0|.	.|.	6.0568|6.0568	0.19816|0.19816	0.0:0.3139:0.0:0.6861|0.0:0.3139:0.0:0.6861	.|.	694|.	Q6ZMW2|.	ZN782_HUMAN|.	N|R	694;562|683	ENSP00000419397:K694N;ENSP00000440624:K562N|.	ENSP00000419397:K694N|.	K|S	-|-	3|1	2|0	ZNF782|ZNF782	98620044|98620044	0.000000|0.000000	0.05858|0.05858	0.464000|0.464000	0.27143|0.27143	0.890000|0.890000	0.51754|0.51754	-0.677000|-0.677000	0.05215|0.05215	-0.037000|-0.037000	0.13646|0.13646	0.533000|0.533000	0.62120|0.62120	AAA|AGC		TCGA-IB-7651-01A-11D-2154-08	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	1	0	1	103	331	0	69	0	1.441990e-01	1	2	0	69	2		0	0	0	0	0	2	1	1	101	323	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF782	158431	broad.mit.edu	37	9	99581465	99581465	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581465G>T	ENST00000481138.1	-	6	1501	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782			33		Acute lymphoblastic leukemia(62;0.0527)			TGATTCTACAGAAACAATTTC	0.358000																								0							SO:0001583	missense			ENST00000481138.1	1	1	hg19	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.062972|3.062972	0.55432|0.55432	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.05081|.	3.56;3.5|.	3.8|3.8	2.91|2.91	0.33838|0.33838	Zinc finger, C2H2 (1);|.	0.491488|.	0.15252|.	N|.	0.272278|.	T|T	0.41627|0.41627	0.1167|0.1167	L|L	0.48174|0.48174	1.505|1.505	0.20563|0.20563	N|N	0.999882|0.999882	B|.	0.25904|.	0.137|.	B|.	0.27715|.	0.082|.	T|T	0.24941|0.24941	-1.0146|-1.0146	10|5	0.59425|.	D|.	0.04|.	.|.	9.737|9.737	0.40395|0.40395	0.1042:0.0:0.8958:0.0|0.1042:0.0:0.8958:0.0	.|.	280|.	Q6ZMW2|.	ZN782_HUMAN|.	L|M	280;148|269	ENSP00000419397:F280L;ENSP00000440624:F148L|.	ENSP00000419397:F280L|.	F|L	-|-	3|1	2|2	ZNF782|ZNF782	98621286|98621286	0.867000|0.867000	0.29959|0.29959	0.093000|0.093000	0.20910|0.20910	0.015000|0.015000	0.08874|0.08874	0.649000|0.649000	0.24843|0.24843	1.202000|1.202000	0.43218|0.43218	0.650000|0.650000	0.86243|0.86243	TTC|CTG		TCGA-IB-7651-01A-11D-2154-08	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	1	0	1	72	348	0	75	0	4.142244e-01	1	7	0	75	2		0	0	0	0	0	2	1	1	70	342	0	75	2								-20.000000	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF782	158431	broad.mit.edu	37	9	99581773	99581773	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581773C>T	ENST00000481138.1	-	6	1193	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782			33		Acute lymphoblastic leukemia(62;0.0527)			TTAGTTCTGCCATCCTTAATA	0.413000																								0							SO:0001583	missense			ENST00000481138.1	1	1	hg19	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.400587|1.400587	0.25291|0.25291	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338;ENST00000478850|ENST00000289032	T;T;T|.	0.05580|.	3.58;3.42;5.92|.	3.38|3.38	-2.69|-2.69	0.06022|0.06022	.|.	.|.	.|.	.|.	.|.	T|.	0.17066|.	0.0410|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|.	0.23904|.	-1.0175|.	9|.	0.66056|.	D|.	0.02|.	.|.	1.2202|1.2202	0.01922|0.01922	0.1871:0.3649:0.2541:0.1939|0.1871:0.3649:0.2541:0.1939	.|.	178|.	Q6ZMW2|.	ZN782_HUMAN|.	S|X	178;46;178|166	ENSP00000419397:G178S;ENSP00000440624:G46S;ENSP00000417577:G178S|.	ENSP00000417577:G178S|.	G|W	-|-	1|2	0|0	ZNF782|ZNF782	98621594|98621594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.104000|0.104000	0.19210|0.19210	-1.035000|-1.035000	0.03564|0.03564	-0.587000|-0.587000	0.05890|0.05890	0.650000|0.650000	0.86243|0.86243	GGC|TGG		TCGA-IB-7651-01A-11D-2154-08	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	1	0	1	52	294	0	64	0	2.901809e-01	1	6	0	64	2		0	0	0	0	0	2	1	1	52	289	0	63	2								-3.080055	1	1	0	0		1	0	0	0	1.938587	0	0.170000	2.060000	1.452991e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
NOX1	27035	broad.mit.edu	37	X	100104325	100104325	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100104325C>A	ENST00000372966.3	-	11	1592	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G426C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1			7					CCCACTTTGCCTAATTCCTCC	0.448000																								0							SO:0001583	missense			ENST00000372966.3	1	1	hg19	CCDS14474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.78|17.78	3.474228|3.474228	0.63737|0.63737	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000372966;ENST00000372960;ENST00000372957|ENST00000427768	D;D|.	0.96232|.	-3.87;-3.95|.	4.05|4.05	4.05|4.05	0.47172|0.47172	Ferric reductase, NAD binding (1);|.	0.252743|.	0.38492|.	N|.	0.001673|.	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.80103|0.80103	-0.1522|-0.1522	10|5	0.38643|.	T|.	0.18|.	-8.1455|-8.1455	14.5632|14.5632	0.68156|0.68156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;463|.	A6NGA6;Q9Y5S8|.	.;NOX1_HUMAN|.	C|M	463;426;152|147	ENSP00000362057:G463C;ENSP00000362051:G426C|.	ENSP00000362048:G152C|.	G|R	-|-	1|2	0|0	NOX1|NOX1	99990981|99990981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	3.965000|3.965000	0.56788|0.56788	1.866000|1.866000	0.54105|0.54105	0.544000|0.544000	0.68410|0.68410	GGC|AGG		TCGA-IB-7651-01A-11D-2154-08	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	1	0	1	56	154	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	56	154	0	63	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NOX1	27035	broad.mit.edu	37	X	100117559	100117559	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100117559C>T	ENST00000372966.3	-	6	698	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.V165M|NOX1_ENST00000372960.4_Missense_Mutation_p.V128M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1			7					ACATACTCCACTGTCTGTGAA	0.473000																								0							SO:0001583	missense			ENST00000372966.3	1	1	hg19	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308253	0.40895	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.96041	-3.8;-3.89;-3.89	4.62	2.63	0.31362	Flavoprotein transmembrane component (1);	0.377590	0.22478	N	0.059521	D	0.92958	0.7759	L	0.45581	1.43	0.26616	N	0.972746	B;P;P	0.41498	0.18;0.708;0.752	B;B;P	0.45913	0.09;0.364;0.497	D	0.86420	0.1754	10	0.36615	T	0.2	-6.3206	7.5402	0.27733	0.3339:0.5205:0.1456:0.0	.	128;165;165	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	M	165;165;128	ENSP00000362057:V165M;ENSP00000217885:V165M;ENSP00000362051:V128M	ENSP00000217885:V165M	V	-	1	0	NOX1	100004215	0.505000	0.26131	0.993000	0.49108	0.984000	0.73092	0.251000	0.18257	1.018000	0.39521	0.600000	0.82982	GTG		TCGA-IB-7651-01A-11D-2154-08	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	1	0	1	232	861	0	322	0	0	1	0	0	322	2		0	0	0	0	0	2	1	1	229	846	0	321	2								-20.000000	1	1	121402	2	40	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DRP2	1821	broad.mit.edu	37	X	100503249	100503249	+	Missense_Mutation	SNP	G	G	A	rs6621017		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100503249G>A	ENST00000395209.3	+	13	1951	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	DRP2_ENST00000541709.1_Missense_Mutation_p.S397N|DRP2_ENST00000538510.1_Missense_Mutation_p.S475N|DRP2_ENST00000402866.1_Missense_Mutation_p.S475N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2			31					GTGGACATGAGCCTCAATTGG	0.488000																								0							SO:0001583	missense			ENST00000395209.3	1	1	hg19	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870939	0.51695	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.17	3.23	0.37069	EF-hand domain, type 1 (1);	0.134549	0.64402	D	0.000001	T	0.49218	0.1544	N	0.14661	0.345	0.31643	N	0.647767	B	0.33413	0.411	B	0.37731	0.257	T	0.61436	-0.7063	10	0.87932	D	0	-8.3967	14.8724	0.70468	0.0:0.5098:0.4902:0.0	rs6621017;rs52814268;rs6621017	475	Q13474	DRP2_HUMAN	N	475;475;397;475	ENSP00000385038:S475N;ENSP00000378635:S475N;ENSP00000444752:S397N;ENSP00000441051:S475N	ENSP00000378635:S475N	S	+	2	0	DRP2	100389905	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.897000	0.56273	0.942000	0.37525	0.513000	0.50165	AGC		TCGA-IB-7651-01A-11D-2154-08	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	0	0	1	192	512	0	175	0	5.190869e-01	0	6	0	175	2		0	0	0	0	0	2	1	1	192	504	0	174	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTK	695	broad.mit.edu	37	X	100615114	100615114	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100615114G>A	ENST00000308731.7	-	9	964	c.801C>T	c.(799-801)aaC>aaT	p.N267N	BTK_ENST00000372880.1_Silent_p.N267N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase			50					CAGTGACATAGTTACTAGGAA	0.448000									Agammaglobulinemia, X-linked															0							SO:0001819	synonymous_variant	Familial Cancer Database	Bruton Type Agammaglobulinemia	ENST00000308731.7	1	1	hg19	CCDS14482.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	1	0	1	119	378	0	128	0	9.999896e-01	0	55	0	128	2		0	0	0	0	0	2	1	1	113	367	0	129	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BTK	695	broad.mit.edu	37	X	100630208	100630208	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100630208G>A	ENST00000308731.7	-	2	228	c.65C>T	c.(64-66)cCt>cTt	p.P22L	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase			50					GAAGTTTAGAGGTGATGTTTT	0.443000									Agammaglobulinemia, X-linked															0							SO:0001583	missense	Familial Cancer Database	Bruton Type Agammaglobulinemia	ENST00000308731.7	1	1	hg19	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387602	0.82902	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93659	-3.26;-3.26	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	0.998;0.99;1.0	D;D;D	0.87578	0.912;0.933;0.998	D	0.95856	0.8879	10	0.51188	T	0.08	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	22;22;22	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	L	22	ENSP00000361971:P22L;ENSP00000308176:P22L	ENSP00000308176:P22L	P	-	2	0	BTK	100516864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.237000	0.73441	0.600000	0.82982	CCT		TCGA-IB-7651-01A-11D-2154-08	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	1	0	1	184	543	0	193	0	9.999978e-01	0	57	0	193	2		0	0	0	0	0	2	1	1	183	531	0	193	2								-6.661004	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMCX6	54470	broad.mit.edu	37	X	100871474	100871474	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100871474T>C	ENST00000361910.4	-	3	481	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000539247.1_Missense_Mutation_p.D46G	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6			9					ctggtcatcgtcccactcctc	0.537000																								0							SO:0001583	missense			ENST00000361910.4	1	1	hg19	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	7.500	0.652539	0.14580	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.52295	0.67;0.67;0.67	3.71	2.55	0.30701	.	0.616408	0.13717	N	0.367662	T	0.33731	0.0873	L	0.38175	1.15	0.24072	N	0.99597	B	0.12013	0.005	B	0.08055	0.003	T	0.24941	-1.0146	10	0.52906	T	0.07	-1.718	4.934	0.13932	0.0:0.1394:0.0:0.8606	.	46	Q7L4S7	ARMX6_HUMAN	G	46	ENSP00000354708:D46G;ENSP00000444537:D46G;ENSP00000440648:D46G	ENSP00000354708:D46G	D	-	2	0	ARMCX6	100758130	0.954000	0.32549	0.643000	0.29450	0.418000	0.31294	1.764000	0.38471	0.628000	0.30357	0.385000	0.25706	GAC		TCGA-IB-7651-01A-11D-2154-08	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	1	0	1	64	305	0	75	0	9.875064e-01	0	35	0	75	2		0	0	0	0	0	2	1	1	62	292	0	74	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMCX2	9823	broad.mit.edu	37	X	100911186	100911186	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911186G>A	ENST00000328766.5	-	5	1842	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.G463G|ARMCX2_ENST00000356824.4_Silent_p.G463G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2			29					CCTGAAGCCGGCCCTGATTTT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000328766.5	1	1	hg19	CCDS14490.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	0	0	1	153	500	1	136	0	9.999991e-01	0	96	1	136	5		0	0	0	0	0	2	1	1	151	494	1	135	17								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMCX2	9823	broad.mit.edu	37	X	100911224	100911224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911224C>T	ENST00000328766.5	-	5	1804	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2			29					TTATTCATGGCCATTAAGGCT	0.413000																								0							SO:0001583	missense			ENST00000328766.5	1	1	hg19	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945747	0.53079	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.58060	0.36;0.36;0.36	3.87	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.110754	0.64402	D	0.000008	T	0.54431	0.1858	L	0.48362	1.52	0.43798	D	0.996347	P	0.46457	0.878	P	0.54210	0.745	T	0.47114	-0.9142	10	0.25106	T	0.35	-2.7442	10.2206	0.43194	0.0:1.0:0.0:0.0	.	451	Q7L311	ARMX2_HUMAN	T	451	ENSP00000331662:A451T;ENSP00000328631:A451T;ENSP00000349281:A451T	ENSP00000331662:A451T	A	-	1	0	ARMCX2	100797880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.075000	0.41538	2.167000	0.68274	0.422000	0.28245	GCC		TCGA-IB-7651-01A-11D-2154-08	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	1	0	1	140	402	0	132	0	9.999989e-01	0	59	0	132	2		0	0	0	0	0	2	1	1	140	397	0	131	2								-6.571644	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMAT1	84460	broad.mit.edu	37	X	101139427	101139427	+	Silent	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101139427A>C	ENST00000372782.3	-	7	1019	c.972T>G	c.(970-972)acT>acG	p.T324T	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.T324T|ZMAT1_ENST00000458570.1_Silent_p.T153T	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1			22					TTCTGAAACAAGTCTTTGGAT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000372782.3	1	1	hg19	CCDS35348.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1	1	0	1	174	543	0	155	0	6.149981e-01	0	8	0	155	2		0	0	0	0	0	2	1	1	173	534	0	154	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMAT1	84460	broad.mit.edu	37	X	101141638	101141638	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101141638G>A	ENST00000372782.3	-	6	618	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1			22					ATGTGGGACCGGAACATATCT	0.348000																								0							SO:0001583	missense			ENST00000372782.3	1	1	hg19	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680189	0.47886	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.45668	1.86;1.86;0.89	4.94	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.360719	0.20577	N	0.089616	T	0.36220	0.0959	L	0.47716	1.5	0.36786	D	0.884615	B	0.15473	0.013	B	0.14578	0.011	T	0.40590	-0.9555	10	0.87932	D	0	-0.1043	10.11	0.42557	0.0995:0.0:0.9005:0.0	.	191	Q5H9K5	ZMAT1_HUMAN	W	191;191;20	ENSP00000361868:R191W;ENSP00000437529:R191W;ENSP00000413044:R20W	ENSP00000361868:R191W	R	-	1	2	ZMAT1	101028294	1.000000	0.71417	0.953000	0.39169	0.968000	0.65278	4.378000	0.59568	1.201000	0.43203	0.594000	0.82650	CGG		TCGA-IB-7651-01A-11D-2154-08	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1	0	0	0	33	127	1	66	1	8.138825e-01	3	11	1	66	2		0	0	0	0	0	2	1	9.999662e-01	32	127	1	64	10								-3.248520	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZMAT1	84460	broad.mit.edu	37	X	101152901	101152901	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101152901G>T	ENST00000372782.3	-	5	492	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M|ZMAT1_ENST00000458570.1_De_novo_Start_InFrame	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1			22					AATTGCTTCAGTTTTTTAGCA	0.413000																								0							SO:0001583	missense			ENST00000372782.3	1	1	hg19	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.080019	0.08533	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.50813	0.73;0.73	4.59	0.583	0.17417	Zinc finger, U1-type (1);	1.020460	0.07905	N	0.973291	T	0.52533	0.1740	L	0.49256	1.55	0.20403	N	0.999909	D	0.76494	0.999	D	0.65233	0.933	T	0.37663	-0.9696	10	0.41790	T	0.15	0.002	0.3831	0.00398	0.2056:0.2103:0.272:0.3121	.	149	Q5H9K5	ZMAT1_HUMAN	M	149	ENSP00000361868:L149M;ENSP00000437529:L149M	ENSP00000361868:L149M	L	-	1	2	ZMAT1	101039557	0.441000	0.25626	0.020000	0.16555	0.163000	0.22366	0.108000	0.15396	0.084000	0.17077	0.502000	0.49764	CTG		TCGA-IB-7651-01A-11D-2154-08	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1	1	0	1	111	308	0	93	0	2.894521e-01	0	4	0	93	2		0	0	0	0	0	2	1	1	108	304	0	93	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLCN4	1183	broad.mit.edu	37	X	10180547	10180547	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10180547C>T	ENST00000380833.4	+	10	1821	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4			36					GCTGTGGGCGCGATAGCGGGC	0.577000													Melanoma(74;1050 1296 1576 30544 38374)											0							SO:0001583	missense			ENST00000380833.4	1	1	hg19	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326636	0.95708	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.97430	-4.38;-4.38;-4.38	5.46	5.46	0.80206	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98425	1.0579	10	0.87932	D	0	-43.1916	18.4584	0.90729	0.0:1.0:0.0:0.0	.	477	P51793	CLCN4_HUMAN	V	477;446;383	ENSP00000370213:A477V;ENSP00000370209:A446V;ENSP00000405754:A383V	ENSP00000370209:A446V	A	+	2	0	CLCN4	10140547	1.000000	0.71417	0.327000	0.25402	0.947000	0.59692	7.663000	0.83820	2.301000	0.77427	0.513000	0.50165	GCG		TCGA-IB-7651-01A-11D-2154-08	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1	1	0	1	86	373	0	89	1	8.749461e-01	10	8	0	89	2		0	0	0	0	0	2	1	1	85	367	0	87	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMCX5	64860	broad.mit.edu	37	X	101857630	101857630	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857630G>T	ENST00000604957.1	+	1	3183	c.561G>T	c.(559-561)tgG>tgT	p.W187C	ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5			22					CCTGGTTCTGGCCTGAAGAAG	0.458000																								0							SO:0001583	missense			ENST00000604957.1	1	1	hg19	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327715	0.41197	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	3.59	3.59	0.41128	.	0.000000	0.39274	N	0.001411	T	0.28928	0.0718	L	0.29908	0.895	0.53688	D	0.999974	D	0.76494	0.999	P	0.61275	0.886	T	0.03423	-1.1038	10	0.56958	D	0.05	-3.0791	12.3775	0.55289	0.0:0.0:1.0:0.0	.	187	Q6P1M9	ARMX5_HUMAN	C	187	ENSP00000246174:W187C;ENSP00000439001:W187C;ENSP00000446385:W187C;ENSP00000445851:W187C;ENSP00000361827:W187C	ENSP00000246174:W187C	W	+	3	0	ARMCX5	101744286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.695000	0.61767	2.069000	0.61940	0.600000	0.82982	TGG		TCGA-IB-7651-01A-11D-2154-08	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	1	0	1	134	476	0	190	1	9.990502e-01	21	18	0	190	2		0	0	0	0	0	2	1	1	131	467	0	187	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARMCX5	64860	broad.mit.edu	37	X	101857782	101857782	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857782G>A	ENST00000604957.1	+	1	3335	c.713G>A	c.(712-714)gGg>gAg	p.G238E	ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5			22					GTTGAAGGAGGGGAGCAATCC	0.473000																								0							SO:0001583	missense			ENST00000604957.1	1	1	hg19	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255523	0.01457	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	3.7	-0.383	0.12477	.	0.740477	0.11663	N	0.541642	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38394	-0.9663	10	0.02654	T	1	-0.414	0.6024	0.00747	0.2441:0.1952:0.3703:0.1904	.	238	Q6P1M9	ARMX5_HUMAN	E	238	ENSP00000246174:G238E;ENSP00000439001:G238E;ENSP00000446385:G238E;ENSP00000445851:G238E;ENSP00000361827:G238E	ENSP00000246174:G238E	G	+	2	0	ARMCX5	101744438	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.077000	0.11394	-0.210000	0.10140	-0.912000	0.02778	GGG		TCGA-IB-7651-01A-11D-2154-08	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	1	0	1	71	307	0	111	1	9.954387e-01	20	18	0	111	2		0	0	0	0	0	2	1	1	66	304	0	110	2								-2.957810	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRASP1	9737	broad.mit.edu	37	X	101909574	101909574	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101909574C>T	ENST00000361600.5	+	5	1534	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.L245F|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1			60					TAACCAGGAGCTCTATATTGC	0.458000																								0							SO:0001583	missense			ENST00000361600.5	1	1	hg19	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813492	0.16537	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	1.95	-1.3	0.09259	.	.	.	.	.	T	0.02083	0.0065	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44421	-0.9329	9	0.10377	T	0.69	-0.3033	0.198	0.00141	0.21:0.2615:0.2073:0.3212	.	245	Q5JY77	GASP1_HUMAN	F	245	ENSP00000393691:L245F;ENSP00000409420:L245F;ENSP00000355146:L245F;ENSP00000445683:L245F	ENSP00000355146:L245F	L	+	1	0	GPRASP1	101796230	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	-0.849000	0.04322	-0.523000	0.06409	0.279000	0.19357	CTC		TCGA-IB-7651-01A-11D-2154-08	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	0	0	1	185	732	0	239	0	7.700989e-01	0	13	0	239	2		0	0	0	0	0	2	1	1	183	716	0	235	2								-20.000000	1	1	121410	2	37	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRASP1	9737	broad.mit.edu	37	X	101912242	101912242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912242G>A	ENST00000361600.5	+	5	4202	c.3401G>A	c.(3400-3402)aGt>aAt	p.S1134N	GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1			60					GCCAAGGAGAGTACAGAGCCT	0.433000																								0							SO:0001583	missense			ENST00000361600.5	1	1	hg19	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120952	0.01785	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	2.74	0.891	0.19224	Armadillo-type fold (1);	.	.	.	.	T	0.10423	0.0255	L	0.57536	1.79	0.09310	N	1	B	0.30824	0.296	B	0.28991	0.097	T	0.26643	-1.0097	9	0.52906	T	0.07	-6.343	4.4784	0.11755	0.3479:0.0:0.6521:0.0	.	1134	Q5JY77	GASP1_HUMAN	N	1134	ENSP00000393691:S1134N;ENSP00000409420:S1134N;ENSP00000355146:S1134N;ENSP00000445683:S1134N	ENSP00000355146:S1134N	S	+	2	0	GPRASP1	101798898	0.344000	0.24827	0.266000	0.24541	0.127000	0.20565	0.916000	0.28651	0.116000	0.18110	0.284000	0.19432	AGT		TCGA-IB-7651-01A-11D-2154-08	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	1	0	1	117	430	0	117	0	9.206332e-01	1	17	0	117	2		0	0	0	0	0	2	1	1	116	423	0	116	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRASP1	9737	broad.mit.edu	37	X	101912585	101912585	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912585C>T	ENST00000361600.5	+	5	4545	c.3744C>T	c.(3742-3744)agC>agT	p.S1248S	GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000444152.1_Silent_p.S1248S|GPRASP1_ENST00000537097.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	p.S1248_D1250delSVD(1)		60					TTGCTTATAGCGTGGATTCCC	0.408000																								1	Deletion - In frame(1)						SO:0001819	synonymous_variant			ENST00000361600.5	1	1	hg19	CCDS35352.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	0	0	0	17	510	0	144	0	2.100029e-01	0	25	0	144	2		0	0	0	0	0	2	1	9.999631e-01	17	505	0	141	2								-3.171062	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.380000	0.230000	0.580000	0.380000	0.396598	0.380000	0	3.000000e-01	4.800000e-01
GPRASP2	114928	broad.mit.edu	37	X	101969867	101969867	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101969867G>A	ENST00000535209.1	+	4	901	c.70G>A	c.(70-72)Gct>Act	p.A24T	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A24T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2			30					AGAGGTTATCGCTGGGCCTGA	0.522000																								0							SO:0001583	missense			ENST00000535209.1	1	1	hg19	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	2.792	-0.251175	0.05867	2.61E-4	0.0	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07021	3.23;3.23;3.23	2.95	-1.43	0.08884	.	1.467860	0.04411	N	0.366081	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40869	-0.9540	10	0.21014	T	0.42	.	3.8041	0.08770	0.3948:0.1847:0.4205:0.0	.	24	Q96D09	GASP2_HUMAN	T	24	ENSP00000437872:A24T;ENSP00000437394:A24T;ENSP00000339057:A24T	ENSP00000339057:A24T	A	+	1	0	GPRASP2	101856523	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.639000	0.24690	-0.757000	0.04697	-0.478000	0.04885	GCT		TCGA-IB-7651-01A-11D-2154-08	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	1	0	1	156	484	0	137	1	9.854663e-01	4	19	0	137	2		0	0	0	0	0	2	1	1	154	475	0	137	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRASP2	114928	broad.mit.edu	37	X	101970438	101970438	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970438C>T	ENST00000535209.1	+	4	1472	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A214V			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2			30					AGGCCCAGGGCCAGAGAGGAG	0.542000																								0							SO:0001583	missense			ENST00000535209.1	1	1	hg19	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085611	0.20390	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07114	3.22;3.22;3.22	5.05	3.25	0.37280	.	0.306114	0.23861	N	0.043841	T	0.05318	0.0141	N	0.20530	0.585	0.32385	N	0.55402	B	0.21905	0.062	B	0.19391	0.025	T	0.22452	-1.0216	10	0.25751	T	0.34	.	8.2111	0.31483	0.0:0.7519:0.1559:0.0922	.	214	Q96D09	GASP2_HUMAN	V	214	ENSP00000437872:A214V;ENSP00000437394:A214V;ENSP00000339057:A214V	ENSP00000339057:A214V	A	+	2	0	GPRASP2	101857094	0.678000	0.27586	0.396000	0.26296	0.002000	0.02628	1.146000	0.31589	0.590000	0.29694	-0.218000	0.12543	GCC		TCGA-IB-7651-01A-11D-2154-08	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	1	0	1	195	674	0	208	1	9.848204e-01	7	18	0	208	2		0	0	0	0	0	2	1	1	188	660	0	206	2								-4.670149	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPRASP2	114928	broad.mit.edu	37	X	101970883	101970883	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970883G>T	ENST00000535209.1	+	4	1917	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.L362F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2			30					ATACTGCCTTGAAACTCAGGG	0.458000																								0							SO:0001583	missense			ENST00000535209.1	1	1	hg19	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238499	0.01493	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08102	3.13;3.13;3.13	4.2	3.34	0.38264	.	0.214477	0.23748	N	0.044960	T	0.08714	0.0216	L	0.51422	1.61	0.09310	N	1	P	0.40875	0.731	B	0.39840	0.311	T	0.20338	-1.0278	10	0.26408	T	0.33	.	9.3161	0.37934	0.1092:0.0:0.8908:0.0	.	362	Q96D09	GASP2_HUMAN	F	362	ENSP00000437872:L362F;ENSP00000437394:L362F;ENSP00000339057:L362F	ENSP00000339057:L362F	L	+	3	2	GPRASP2	101857539	0.282000	0.24268	0.236000	0.24074	0.014000	0.08584	0.221000	0.17680	1.135000	0.42183	0.600000	0.82982	TTG		TCGA-IB-7651-01A-11D-2154-08	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	1	0	1	95	364	0	102	1	9.702617e-01	4	20	0	102	2		0	0	0	0	0	2	1	1	93	355	0	99	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLRA4	441509	broad.mit.edu	37	X	102974199	102974199	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:102974199C>A	ENST00000372617.4	-	7	1139	c.719G>T	c.(718-720)gGg>gTg	p.G240V	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4			21					GGTGAATTTCCCTGCAAGGAG	0.552000																								0							SO:0001630	splice_region_variant			ENST00000372617.4	0	1	hg19	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252104	0.80135	.	.	ENSG00000188828	ENST00000372617	T	0.81163	-1.46	5.29	5.29	0.74685	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94951	0.8100	10	0.87932	D	0	.	15.6	0.76616	0.0:1.0:0.0:0.0	.	240;199	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	V	240	ENSP00000361700:G240V	ENSP00000361700:G240V	G	-	2	0	GLRA4	102860855	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.818000	0.86416	2.366000	0.80165	0.600000	0.82982	GGG		TCGA-IB-7651-01A-11D-2154-08	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	0	0	0	18	447	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	9.999790e-01	19	436	0	121	2								-2.758035	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.450000	0.280000	0.680000	0.450000	0.473623	0.450000	0	3.600000e-01	5.700000e-01
ESX1	80712	broad.mit.edu	37	X	103499510	103499510	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103499510G>A	ENST00000372588.4	-	1	104	c.21C>T	c.(19-21)taC>taT	p.Y7Y		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1			27					CACTGTGGGTGTACCCGCGAA	0.587000													Pancreas(200;1705 2227 25194 28471 45274)											0							SO:0001819	synonymous_variant			ENST00000372588.4	1	1	hg19	CCDS14516.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	0	0	1	242	812	1	243		0	0	0	1	243	2		0	0	0	0	0	2	1	1	241	800	0	238	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MID1	4281	broad.mit.edu	37	X	10417463	10417463	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10417463A>C	ENST00000317552.4	-	10	2349	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	MID1_ENST00000479925.1_5'Flank|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380785.1_Missense_Mutation_p.I650S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1			26					CCCAGTGATAATCGTCAGACA	0.532000																								0							SO:0001583	missense			ENST00000317552.4	1	1	hg19	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857486	0.91433	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	M	0.80332	2.49	0.58432	D	0.999999	D;D;D	0.57899	0.981;0.981;0.961	P;P;D	0.64410	0.891;0.868;0.925	D	0.84339	0.0526	10	0.87932	D	0	.	14.7167	0.69275	1.0:0.0:0.0:0.0	.	650;650;600	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	S	650;650;650;650;650;650;600	ENSP00000414521:I650S;ENSP00000312678:I650S;ENSP00000370162:I650S;ENSP00000370156:I650S;ENSP00000370164:I650S;ENSP00000370157:I650S	ENSP00000312678:I650S	I	-	2	0	MID1	10377463	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	8.772000	0.91757	1.857000	0.53885	0.345000	0.21793	ATT		TCGA-IB-7651-01A-11D-2154-08	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1	1	0	1	72	224	0	80	1	9.520488e-01	7	11	0	80	2		0	0	0	0	0	2	1	1	68	220	0	80	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MID1	4281	broad.mit.edu	37	X	10427733	10427733	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10427733T>A	ENST00000317552.4	-	8	1800	c.1400A>T	c.(1399-1401)aAc>aTc	p.N467I	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_Missense_Mutation_p.N467I|MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000453318.2_Missense_Mutation_p.N467I|MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380785.1_Missense_Mutation_p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1			26					GCCCGCCTGGTTGATGGCCTT	0.517000																								0							SO:0001583	missense			ENST00000317552.4	1	1	hg19	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641151	0.87859	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.34	5.34	0.76211	Fibronectin, type III (4);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73953	-0.3820	10	0.72032	D	0.01	.	14.4277	0.67227	0.0:0.0:0.0:1.0	.	467;467;417	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	I	467;467;467;467;467;467;467;417;467	ENSP00000414521:N467I;ENSP00000312678:N467I;ENSP00000370162:N467I;ENSP00000370156:N467I;ENSP00000370164:N467I;ENSP00000370157:N467I;ENSP00000370159:N467I;ENSP00000391154:N467I	ENSP00000312678:N467I	N	-	2	0	MID1	10387733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	1.787000	0.52448	0.481000	0.45027	AAC		TCGA-IB-7651-01A-11D-2154-08	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1	0	0	1	193	665	0	168	1	9.572693e-01	14	6	0	168	2		0	0	0	0	0	2	1	1	192	653	0	167	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL1RAPL2	26280	broad.mit.edu	37	X	104440202	104440202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104440202C>T	ENST00000372582.1	+	3	884	c.128C>T	c.(127-129)gCt>gTt	p.A43V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2			49					ACATACATGGCTTTGGCAGGT	0.458000																								0							SO:0001583	missense			ENST00000372582.1	1	1	hg19	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.242091	0.10077	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.73789	-0.78;-0.78	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000030	T	0.37156	0.0993	N	0.00332	-1.63	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.53781	-0.8390	10	0.02654	T	1	.	13.2374	0.59976	0.0:0.8453:0.1547:0.0	.	43	Q9NP60	IRPL2_HUMAN	V	43	ENSP00000361663:A43V;ENSP00000344976:A43V	ENSP00000344976:A43V	A	+	2	0	IL1RAPL2	104326858	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.439000	0.59968	2.350000	0.79820	0.600000	0.82982	GCT		TCGA-IB-7651-01A-11D-2154-08	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	1	0	1	47	372	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1	47	371	0	105	2								-17.369480	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.980000	1.000000	1.000000	0.998469	0.990000	1	9.900000e-01	1
TEX13A	56157	broad.mit.edu	37	X	104464070	104464070	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464070G>A	ENST00000413579.1	-	5	917	c.806C>T	c.(805-807)tCg>tTg	p.S269L	TEX13A_ENST00000372578.3_Missense_Mutation_p.R270W|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A			8					TGTTTCGACCGACCGGAGATC	0.537000																								0							SO:0001583	missense			ENST00000413579.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.768797|2.768797	0.49680|0.49680	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	3.45|3.45	0.39498|0.39498	.|.	.|0.294550	.|0.18682	.|N	.|0.134132	T|T	0.48095|0.48095	0.1481|0.1481	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.53035	.|0.716	T|T	0.35051|0.35051	-0.9804|-0.9804	6|9	0.87932|0.54805	D|T	0|0.06	.|.	9.4612|9.4612	0.38785|0.38785	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|269	.|Q9BXU3	.|TX13A_HUMAN	W|L	270|269	.|.	ENSP00000361656:R270W|ENSP00000399753:S269L	R|S	-|-	1|2	2|0	TEX13A|TEX13A	104350726|104350726	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	1.334000|1.334000	0.33827|0.33827	1.976000|1.976000	0.57569|0.57569	0.513000|0.513000	0.50165|0.50165	CGG|TCG		TCGA-IB-7651-01A-11D-2154-08	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	9	252	0	52		0	0	0	0	52	2		0	0	0	0	0	2	0	9.308384e-02	9	244	1	52	16								-3.544966	1	1	121018	1	30	1	0	1	1			0.170000	2.060000	1.700000e-01	0.410000	0.200000	0.710000	0.400000	0.438941	0.410000	0	2.900000e-01	5.700000e-01
TEX13A	56157	broad.mit.edu	37	X	104464394	104464394	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464394G>T	ENST00000413579.1	-	3	595	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	TEX13A_ENST00000372578.3_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A			8					GCAGTGGCCAGGCCTGGCCAC	0.652000																								0							SO:0001583	missense			ENST00000413579.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.95	1.495161	0.26774	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.65	0.636	0.17729	.	1.458410	0.05184	N	0.501986	T	0.59376	0.2189	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.70487	0.969;0.969	T	0.42155	-0.9468	8	0.51188	T	0.08	.	7.7274	0.28767	0.0:0.5363:0.4637:0.0	.	162;162	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	162	.	ENSP00000361656:L162M	L	-	1	2	TEX13A	104351050	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.664000	0.05292	0.056000	0.16144	0.422000	0.28245	CTG		TCGA-IB-7651-01A-11D-2154-08	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	6	265	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	9.642322e-01	6	262	0	54	2								-7.342046	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.270000	0.110000	0.520000	0.260000	0.296230	0.270000	0	1.800000e-01	4.000000e-01
TEX13A	56157	broad.mit.edu	37	X	104464816	104464816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464816C>A	ENST00000413579.1	-	2	377	c.266G>T	c.(265-267)aGg>aTg	p.R89M	TEX13A_ENST00000372578.3_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A			8					CCACCGCACCCTGTGCCTTTG	0.632000																								0							SO:0001583	missense			ENST00000413579.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	10.74	1.436760	0.25900	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	2.24	0.28232	.	0.000000	0.33916	N	0.004425	T	0.61837	0.2379	.	.	.	0.58432	D	0.99999	D;D	0.62365	0.991;0.991	P;P	0.55785	0.784;0.784	T	0.60146	-0.7320	8	0.49607	T	0.09	.	5.6601	0.17664	0.0:0.8436:0.0:0.1564	.	89;89	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	89	.	ENSP00000361656:R89M	R	-	2	0	TEX13A	104351472	0.422000	0.25473	0.805000	0.32314	0.014000	0.08584	0.801000	0.27055	0.716000	0.32124	-0.315000	0.08773	AGG		TCGA-IB-7651-01A-11D-2154-08	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	6	210	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	9.651049e-01	6	209	0	57	2								-7.883641	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.340000	0.140000	0.650000	0.320000	0.369230	0.340000	0	2.200000e-01	5.000000e-01
TEX13A	56157	broad.mit.edu	37	X	104464827	104464827	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464827T>C	ENST00000413579.1	-	2	366	c.255A>G	c.(253-255)ctA>ctG	p.L85L	TEX13A_ENST00000372578.3_Silent_p.L85L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.L85L|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A			8					TGTGCCTTTGTAGCTGTGCCT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000413579.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	62	162	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1	62	161	0	61	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IL1RAPL2	26280	broad.mit.edu	37	X	104999178	104999178	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104999178G>T	ENST00000372582.1	+	10	1956	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2			49					AAGACAACAAGGAATATGATG	0.383000																								0							SO:0001583	missense			ENST00000372582.1	1	1	hg19	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954421	0.53293	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02787	4.16;4.16;4.16	5.62	2.57	0.30868	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.64402	D	0.000004	T	0.16599	0.0399	M	0.91972	3.26	0.53005	D	0.999968	D	0.76494	0.999	D	0.80764	0.994	T	0.00087	-1.2092	10	0.87932	D	0	.	8.5678	0.33550	0.4625:0.0:0.5375:0.0	.	400	Q9NP60	IRPL2_HUMAN	N	400;400;5	ENSP00000361663:K400N;ENSP00000344976:K400N;ENSP00000445576:K5N	ENSP00000344976:K400N	K	+	3	2	IL1RAPL2	104885834	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	0.455000	0.21843	0.067000	0.16545	0.600000	0.82982	AAG		TCGA-IB-7651-01A-11D-2154-08	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	1	0	1	81	269	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	79	268	0	94	2								-4.135452	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NRK	203447	broad.mit.edu	37	X	105179162	105179162	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105179162T>C	ENST00000243300.9	+	21	3803	c.3500T>C	c.(3499-3501)tTa>tCa	p.L1167S	NRK_ENST00000428173.2_Splice_Site_p.L1168S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase			76					ATCTTTGCAGTATACGCTGGA	0.388000										HNSCC(51;0.14)														0							SO:0001630	splice_region_variant			ENST00000243300.9	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	5.042	0.193493	0.09599	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79554	-1.27;-1.28	4.78	2.34	0.29019	.	1.495940	0.04486	N	0.378660	T	0.63010	0.2475	N	0.17082	0.46	0.09310	N	0.999999	B;B	0.27882	0.06;0.192	B;B	0.18561	0.019;0.022	T	0.52741	-0.8535	9	.	.	.	.	1.8464	0.03160	0.28:0.1695:0.0:0.5505	.	835;1167	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	S	1167;1168	ENSP00000434830:L1167S;ENSP00000438378:L1168S	.	L	+	2	0	NRK	105065818	1.000000	0.71417	0.747000	0.31113	0.136000	0.21042	0.991000	0.29654	0.813000	0.34350	0.486000	0.48141	TTA		TCGA-IB-7651-01A-11D-2154-08	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	0	0	0	6	309	0	105	0	0	0	1	0	105	2		0	0	0	0	0	2	1	9.632342e-01	6	303	0	105	2								-7.461673	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.230000	0.090000	0.450000	0.220000	0.255760	0.230000	0	1.500000e-01	3.400000e-01
NRK	203447	broad.mit.edu	37	X	105187998	105187998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105187998G>A	ENST00000243300.9	+	24	4327	c.4024G>A	c.(4024-4026)Gca>Aca	p.A1342T	NRK_ENST00000428173.2_Missense_Mutation_p.A1343T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase			76					TTATGCATGGGCACCAAAGTC	0.318000										HNSCC(51;0.14)														0							SO:0001583	missense			ENST00000243300.9	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.37	3.104157	0.56291	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04970	3.52;3.52	5.44	4.57	0.56435	Citron-like (2);	0.139426	0.33477	N	0.004877	T	0.11879	0.0289	M	0.71871	2.18	0.80722	D	1	B	0.31769	0.339	B	0.36030	0.216	T	0.01298	-1.1392	10	0.87932	D	0	.	12.2853	0.54789	0.0835:0.0:0.9165:0.0	.	1342	Q7Z2Y5	NRK_HUMAN	T	1342;1343	ENSP00000434830:A1342T;ENSP00000438378:A1343T	ENSP00000434830:A1342T	A	+	1	0	NRK	105074654	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.112000	0.64634	1.060000	0.40578	0.594000	0.82650	GCA		TCGA-IB-7651-01A-11D-2154-08	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	1	0	1	14	26	0	13	0	0	0	1	0	13	2		0	0	0	0	0	2	1	9.999214e-01	14	26	0	13	2								-15.681300	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	9.900000e-01	1
NRK	203447	broad.mit.edu	37	X	105189929	105189929	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105189929A>G	ENST00000243300.9	+	25	4428	c.4125A>G	c.(4123-4125)atA>atG	p.I1375M	NRK_ENST00000540278.1_5'Flank|NRK_ENST00000428173.2_Missense_Mutation_p.I1376M	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase			76					ATATACGAATACTGGCAAAAA	0.443000										HNSCC(51;0.14)														0							SO:0001583	missense			ENST00000243300.9	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	15.06	2.721956	0.48728	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79141	-1.23;-1.24	4.33	3.14	0.36123	Citron-like (2);	0.000000	0.56097	D	0.000036	T	0.72309	0.3444	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72940	-0.4139	10	0.72032	D	0.01	.	6.1494	0.20303	0.7716:0.0:0.0:0.2284	.	1375	Q7Z2Y5	NRK_HUMAN	M	1375;1376	ENSP00000434830:I1375M;ENSP00000438378:I1376M	ENSP00000434830:I1375M	I	+	3	3	NRK	105076585	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.184000	0.42575	0.749000	0.32854	0.486000	0.48141	ATA		TCGA-IB-7651-01A-11D-2154-08	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	0	0	1	41	119	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1	40	113	0	46	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA7	6906	broad.mit.edu	37	X	105279214	105279214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105279214C>T	ENST00000327674.4	-	2	1120	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7			24				Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGCATTCTTGCTGTAGTCCAT	0.463000																								0							SO:0001583	missense			ENST00000327674.4	1	1	hg19	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134247	0.01742	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.83992	-1.79;-1.79	4.63	-0.624	0.11552	Serpin domain (3);	0.446758	0.22838	N	0.055014	T	0.72162	0.3426	L	0.55103	1.725	0.19775	N	0.999957	B	0.06786	0.001	B	0.11329	0.006	T	0.54002	-0.8358	10	0.18276	T	0.48	.	5.4022	0.16303	0.0:0.2925:0.4333:0.2742	.	262	P05543	THBG_HUMAN	N	262	ENSP00000329374:S262N;ENSP00000361644:S262N	ENSP00000329374:S262N	S	-	2	0	SERPINA7	105165870	0.003000	0.15002	0.008000	0.14137	0.029000	0.11900	-0.139000	0.10358	-0.399000	0.07668	-1.008000	0.02478	AGC		TCGA-IB-7651-01A-11D-2154-08	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	1	0	1	164	555	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	1	161	543	0	142	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA7	6906	broad.mit.edu	37	X	105280503	105280503	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280503C>A	ENST00000327674.4	-	1	882	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7			24				Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACAACTTTCCCTTTGGTTTGC	0.408000																								0							SO:0001583	missense			ENST00000327674.4	1	1	hg19	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396056	0.25205	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.91295	-2.82;-2.82	4.7	1.97	0.26223	Serpin domain (3);	0.000000	0.64402	D	0.000002	D	0.96445	0.8840	H	0.98005	4.125	0.37093	D	0.899548	D	0.89917	1.0	D	0.97110	1.0	D	0.95310	0.8411	10	0.87932	D	0	.	8.2327	0.31608	0.0:0.7401:0.0:0.2599	.	183	P05543	THBG_HUMAN	W	183	ENSP00000329374:G183W;ENSP00000361644:G183W	ENSP00000329374:G183W	G	-	1	0	SERPINA7	105167159	1.000000	0.71417	0.873000	0.34254	0.082000	0.17680	5.491000	0.66887	0.171000	0.19730	0.594000	0.82650	GGG		TCGA-IB-7651-01A-11D-2154-08	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	1	0	1	187	534	0	193		0	0	0	0	193	2		0	0	0	0	0	2	1	1	182	525	0	193	2								-7.040262	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA7	6906	broad.mit.edu	37	X	105280711	105280711	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280711C>T	ENST00000327674.4	-	1	674	c.339G>A	c.(337-339)caG>caA	p.Q113Q	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.Q113Q			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7			24				Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGATCAGATGCTGGAAGCCAT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000327674.4	1	1	hg19	CCDS14518.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	1	0	1	129	414	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	126	411	0	107	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF128	79589	broad.mit.edu	37	X	106016155	106016155	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016155T>G	ENST00000255499.2	+	2	747	c.497T>G	c.(496-498)aTt>aGt	p.I166S	RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase			11					GCAGTAGACATTGTTGCAATC	0.328000																								0							SO:0001583	missense			ENST00000255499.2	1	1	hg19	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407574	0.62399	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.10960	2.82;2.82;2.82	5.65	5.65	0.86999	Protease-associated domain, PA (1);	0.284101	0.37219	N	0.002198	T	0.31857	0.0810	M	0.80422	2.495	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.977	T	0.08700	-1.0709	10	0.87932	D	0	.	8.3492	0.32292	0.0:0.0893:0.0:0.9107	.	166;140	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	113;140;166	ENSP00000412610:I113S;ENSP00000316127:I140S;ENSP00000255499:I166S	ENSP00000255499:I166S	I	+	2	0	RNF128	105902811	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.987000	0.40687	1.889000	0.54706	0.417000	0.27973	ATT		TCGA-IB-7651-01A-11D-2154-08	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	1	0	1	78	260	0	68	1	1	175	32	0	68	2		0	0	0	0	0	2	1	1	78	256	0	68	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RNF128	79589	broad.mit.edu	37	X	106016311	106016311	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016311T>G	ENST00000255499.2	+	2	903	c.653T>G	c.(652-654)aTt>aGt	p.I218S	RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase			11					TTTTTTATTATTACGGCGGCA	0.408000																								0							SO:0001583	missense			ENST00000255499.2	1	1	hg19	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055257	0.55325	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.33438	1.41;2.75;2.56	5.83	5.83	0.93111	.	0.057243	0.64402	D	0.000002	T	0.25680	0.0625	N	0.14661	0.345	0.45272	D	0.998276	B;P	0.46395	0.237;0.877	B;P	0.46339	0.157;0.513	T	0.06552	-1.0820	10	0.56958	D	0.05	.	13.8541	0.63515	0.0:0.0:0.0:1.0	.	218;192	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	165;192;218	ENSP00000412610:I165S;ENSP00000316127:I192S;ENSP00000255499:I218S	ENSP00000255499:I218S	I	+	2	0	RNF128	105902967	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.987000	0.63857	1.953000	0.56701	0.417000	0.27973	ATT		TCGA-IB-7651-01A-11D-2154-08	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	1	0	1	108	396	0	107	1	1	143	23	0	107	2		0	0	0	0	0	2	1	1	105	388	0	103	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MORC4	79710	broad.mit.edu	37	X	106236586	106236586	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106236586G>T	ENST00000355610.4	-	3	456	c.182C>A	c.(181-183)gCt>gAt	p.A61D	MORC4_ENST00000535534.1_De_novo_Start_OutOfFrame|MORC4_ENST00000255495.7_Missense_Mutation_p.A61D	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4			28					TGGATCTACAGCATTATCTGC	0.393000																								0							SO:0001583	missense			ENST00000355610.4	1	0	hg19	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553454	0.86127	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	D;D	0.84370	-1.84;-1.84	5.44	5.44	0.79542	ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96314	0.9231	9	.	.	.	-13.0165	15.7844	0.78291	0.0:0.0:1.0:0.0	.	61;61	A1YR23;Q8TE76	.;MORC4_HUMAN	D	61	ENSP00000347821:A61D;ENSP00000255495:A61D	.	A	-	2	0	MORC4	106123242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.830000	0.92063	2.413000	0.81919	0.594000	0.82650	GCT		TCGA-IB-7651-01A-11D-2154-08	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	1	0	1	66	260	0	64	1	9.660338e-01	19	5	0	64	2		0	0	0	0	0	2	1	1	66	257	0	63	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSC22D3	1831	broad.mit.edu	37	X	106957916	106957916	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106957916T>G	ENST00000372397.2	-	3	561	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L|TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372383.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3			6					AGCTCTCGGATCTGCTCCTTC	0.517000																								0							SO:0001583	missense			ENST00000372397.2	1	1	hg19	CCDS14531.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482291	0.84747	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000486554	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.87900	2.915	0.80722	D	1	D;D	0.71674	0.977;0.998	D;D	0.87578	0.949;0.998	D	0.84334	0.0523	9	0.87932	D	0	-12.8729	12.659	0.56803	0.0:0.0:0.0:1.0	.	146;80	Q99576-3;Q99576	.;T22D3_HUMAN	L	23;80;146;146;146;125;56;146;78;23	.	ENSP00000314655:I146L	I	-	1	0	TSC22D3	106844572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.020000	0.88740	1.965000	0.57142	0.486000	0.48141	ATC		TCGA-IB-7651-01A-11D-2154-08	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	1	0	1	170	668	0	202	1	1	187	2392	0	202	2		0	0	0	0	0	2	1	1	165	651	0	201	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MID2	11043	broad.mit.edu	37	X	107084366	107084366	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107084366T>C	ENST00000262843.6	+	2	1019	c.471T>C	c.(469-471)tgT>tgC	p.C157C	MID2_ENST00000443968.2_Silent_p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2			19					GCATCACCTGTGAGGTCTCCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000262843.6	1	1	hg19	CCDS14532.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	1	0	1	44	165	0	47	0	9.829665e-01	0	27	0	47	2		0	0	0	0	0	2	1	1	43	160	0	47	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MID2	11043	broad.mit.edu	37	X	107160956	107160956	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107160956C>T	ENST00000262843.6	+	7	1970	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Intron	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2			19					CAAGATTGGCCGGGGCGCCAC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000262843.6	1	1	hg19	CCDS14532.2																																																																																				TCGA-IB-7651-01A-11D-2154-08	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	1	0	0	88	320	0	133	0	7.218867e-01	0	11	0	133	2		0	0	0	0	0	2	1	1	83	310	0	132	2								-20.000000	1	1	121410	4	41	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MID2	11043	broad.mit.edu	37	X	107167644	107167644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107167644C>T	ENST00000262843.6	+	8	2055	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.L473F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2			19					AGTGCATGGACTCCAGAGCGG	0.458000																								0							SO:0001583	missense			ENST00000262843.6	1	1	hg19	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554462	0.86231	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;D	0.84873	-1.01;-1.91	5.99	5.99	0.97316	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.98;0.997	D	0.89238	0.3582	10	0.72032	D	0.01	.	16.6313	0.85033	0.0:1.0:0.0:0.0	.	503;473	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	F	503;473	ENSP00000262843:L503F;ENSP00000413976:L473F	ENSP00000262843:L503F	L	+	1	0	MID2	107054300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.035000	0.49759	2.536000	0.85505	0.600000	0.82982	CTC		TCGA-IB-7651-01A-11D-2154-08	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	1	0	1	76	268	0	87	0	9.976673e-01	1	34	0	87	2		0	0	0	0	0	2	1	1	76	266	0	86	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX13B	56156	broad.mit.edu	37	X	107224738	107224738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107224738C>T	ENST00000302917.1	-	3	603	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B			28					CCGGCAGTGGCCAGGCCTGGA	0.617000																								0							SO:0001583	missense			ENST00000302917.1	1	1	hg19	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883802	0.33255	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.37	2.5	0.30297	.	.	.	.	.	T	0.26774	0.0655	L	0.35854	1.095	0.09310	N	1	P	0.40970	0.734	B	0.39531	0.302	T	0.11665	-1.0578	8	0.52906	T	0.07	.	5.677	0.17753	0.0:0.8465:0.0:0.1535	.	171	Q9BXU2	TX13B_HUMAN	T	171	.	ENSP00000303777:A171T	A	-	1	0	TEX13B	107111394	0.028000	0.19301	0.003000	0.11579	0.024000	0.10985	1.307000	0.33516	0.792000	0.33850	0.415000	0.27848	GCC		TCGA-IB-7651-01A-11D-2154-08	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1	0	0	1	136	873	1	227		0	0	0	1	227	2		0	0	0	0	0	2	1	1	133	861	1	221	16								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX13B	56156	broad.mit.edu	37	X	107225187	107225187	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107225187G>A	ENST00000302917.1	-	2	263	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	p.S57S(1)		28					TGGGCACCTCGCTGTCCTCCA	0.602000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000302917.1	1	1	hg19	CCDS14534.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1	0	0	0	26	713	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	9.999999e-01	26	705	0	159	2								-3.354329	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.410000	0.270000	0.580000	0.410000	0.425834	0.410000	0	3.400000e-01	5.000000e-01
COL4A6	1288	broad.mit.edu	37	X	107417832	107417832	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107417832A>G	ENST00000372216.4	-	31	3079	c.2979T>C	c.(2977-2979)ggT>ggC	p.G993G	COL4A6_ENST00000538570.1_Silent_p.G992G|COL4A6_ENST00000545689.1_Silent_p.G992G|COL4A6_ENST00000334504.7_Silent_p.G992G|COL4A6_ENST00000394872.2_Silent_p.G993G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6			92					GTCCAGGTCGACCAGCCTCTC	0.547000									Alport syndrome with Diffuse Leiomyomatosis				Melanoma(87;1895 1945 2589 7165)											0							SO:0001819	synonymous_variant	Familial Cancer Database		ENST00000372216.4	1	0	hg19	CCDS14541.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	0	0	1	59	191	1	52	0	0	0	1	1	52	2		0	0	0	0	0	2	1	1	57	185	1	52	16								-1.965485	0	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL4A6	1288	broad.mit.edu	37	X	107418934	107418934	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107418934G>A	ENST00000372216.4	-	29	2883	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L|COL4A6_ENST00000334504.7_Missense_Mutation_p.S927L|COL4A6_ENST00000394872.2_Missense_Mutation_p.S928L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6			92					TTTTCCAGTTGATCCTGGAAT	0.468000									Alport syndrome with Diffuse Leiomyomatosis				Melanoma(87;1895 1945 2589 7165)											0							SO:0001583	missense	Familial Cancer Database		ENST00000372216.4	1	1	hg19	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	7.815	0.716629	0.15306	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.21	2.29	0.28610	.	0.484707	0.15540	N	0.257006	T	0.79161	0.4399	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.27351	0.069;0.176;0.085;0.069	B;B;B;B	0.31547	0.029;0.132;0.102;0.062	T	0.66156	-0.5994	10	0.11182	T	0.66	.	5.6142	0.17422	0.2836:0.1396:0.5768:0.0	.	927;927;928;927	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	L	928;927;928;927;927;927	ENSP00000361290:S928L;ENSP00000334733:S927L;ENSP00000378340:S928L;ENSP00000443707:S927L;ENSP00000445236:S927L	ENSP00000334733:S927L	S	-	2	0	COL4A6	107305590	0.028000	0.19301	0.002000	0.10522	0.005000	0.04900	1.662000	0.37418	0.195000	0.20347	0.513000	0.50165	TCA		TCGA-IB-7651-01A-11D-2154-08	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	1	0	1	59	213	0	88	0	0	0	1	0	88	2		0	0	0	0	0	2	1	1	59	204	0	88	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL4A6	1288	broad.mit.edu	37	X	107423784	107423784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107423784G>A	ENST00000372216.4	-	25	2195	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P698S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P699S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6			92					GGACTCCCTGGCTCTCCTTTA	0.517000									Alport syndrome with Diffuse Leiomyomatosis				Melanoma(87;1895 1945 2589 7165)											0							SO:0001583	missense	Familial Cancer Database		ENST00000372216.4	1	1	hg19	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614929	0.14129	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.16	4.29	0.51040	.	0.417786	0.18228	N	0.147645	D	0.97629	0.9223	M	0.62088	1.915	0.09310	N	0.999991	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	0.995;0.992;1.0;0.989	D	0.93118	0.6522	10	0.40728	T	0.16	.	11.1653	0.48539	0.0:0.1351:0.7218:0.143	.	698;698;699;698	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	699;698;699;698;698;698	ENSP00000361290:P699S;ENSP00000334733:P698S;ENSP00000378340:P699S;ENSP00000443707:P698S;ENSP00000445236:P698S	ENSP00000334733:P698S	P	-	1	0	COL4A6	107310440	0.009000	0.17119	0.010000	0.14722	0.016000	0.09150	1.545000	0.36169	1.230000	0.43646	0.513000	0.50165	CCA		TCGA-IB-7651-01A-11D-2154-08	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	1	0	1	44	118	0	42	0	1.822302e-01	0	3	0	42	2		0	0	0	0	0	2	1	1	42	115	0	41	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL4A6	1288	broad.mit.edu	37	X	107434631	107434631	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107434631C>A	ENST00000372216.4	-	19	1416	c.1316G>T	c.(1315-1317)gGc>gTc	p.G439V	COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G438V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G439V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6			92					ACTAGGTGGGCCTGGTGGACC	0.542000									Alport syndrome with Diffuse Leiomyomatosis				Melanoma(87;1895 1945 2589 7165)											0							SO:0001583	missense	Familial Cancer Database		ENST00000372216.4	1	1	hg19	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065035	0.36470	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53;-5.53	5.35	5.35	0.76521	.	0.000000	0.43260	D	0.000600	D	0.99432	0.9799	M	0.91768	3.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.98693	1.0697	10	0.72032	D	0.01	.	17.3384	0.87288	0.0:1.0:0.0:0.0	.	438;438;439;438	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	439;438;439;438;438;438	ENSP00000361290:G439V;ENSP00000334733:G438V;ENSP00000378340:G439V;ENSP00000443707:G438V;ENSP00000445236:G438V	ENSP00000334733:G438V	G	-	2	0	COL4A6	107321287	1.000000	0.71417	0.557000	0.28306	0.877000	0.50540	5.212000	0.65225	2.562000	0.86427	0.600000	0.82982	GGC		TCGA-IB-7651-01A-11D-2154-08	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	1	0	1	148	643	0	201	0	0	0	1	0	201	2		0	0	0	0	0	2	1	1	145	633	0	200	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
COL4A5	1287	broad.mit.edu	37	X	107936017	107936017	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107936017C>A	ENST00000361603.2	+	48	4794	c.4550C>A	c.(4549-4551)cCt>cAt	p.P1517H	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1523H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5			99					AGTACCATGCCTTTCATGTTC	0.438000									Alport syndrome with Diffuse Leiomyomatosis															0							SO:0001583	missense	Familial Cancer Database		ENST00000361603.2	1	1	hg19	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821469	0.90873	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95069	-3.6;-3.6	5.82	5.82	0.92795	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99632	1.0986	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	1520;1517	E7EVY4;P29400	.;CO4A5_HUMAN	H	1523;1517;1523	ENSP00000331902:P1523H;ENSP00000354505:P1517H	ENSP00000331902:P1523H	P	+	2	0	COL4A5	107822673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.594000	0.82650	CCT		TCGA-IB-7651-01A-11D-2154-08	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2	1	0	1	75	253	0	76	0	8.305513e-01	0	13	0	76	2		0	0	0	0	0	2	1	1	75	251	0	76	2								-4.257027	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRS4	8471	broad.mit.edu	37	X	107978100	107978100	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107978100T>A	ENST00000372129.2	-	1	1551	c.1475A>T	c.(1474-1476)aAt>aTt	p.N492I	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4			78					TGAGCCCCAATTGTTCATAGG	0.572000																								0							SO:0001583	missense			ENST00000372129.2	1	1	hg19	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819291	0.32145	.	.	ENSG00000133124	ENST00000372129	T	0.36520	1.25	4.2	3.03	0.35002	.	0.406336	0.24523	N	0.037795	T	0.22282	0.0537	N	0.24115	0.695	0.27948	N	0.937263	B	0.25312	0.123	B	0.24006	0.05	T	0.13124	-1.0521	10	0.45353	T	0.12	-3.4817	7.3493	0.26680	0.0:0.1108:0.0:0.8892	.	492	O14654	IRS4_HUMAN	I	492	ENSP00000361202:N492I	ENSP00000361202:N492I	N	-	2	0	IRS4	107864756	0.029000	0.19370	0.977000	0.42913	0.954000	0.61252	0.552000	0.23376	0.754000	0.32968	0.483000	0.47432	AAT		TCGA-IB-7651-01A-11D-2154-08	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	1	0	1	181	587	0	188		0	0	0	0	188	2		0	0	0	0	0	2	1	1	176	566	0	187	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRS4	8471	broad.mit.edu	37	X	107979104	107979104	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979104G>A	ENST00000372129.2	-	1	547	c.471C>T	c.(469-471)agC>agT	p.S157S	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4			78					CTGCTCGCTGGCTCACGGAAA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000372129.2	1	1	hg19	CCDS14544.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	1	0	0	89	304	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1	88	300	0	93	2								-20.000000	1	1	121404	2	29	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRS4	8471	broad.mit.edu	37	X	107979287	107979287	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979287G>A	ENST00000372129.2	-	1	364	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4			78					GTTTGAGCACGAAGTAGCGCC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000372129.2	1	1	hg19	CCDS14544.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	0	0	24	656	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	9.999996e-01	24	640	0	138	2								-3.307251	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.410000	0.270000	0.590000	0.420000	0.428154	0.410000	0	3.300000e-01	5.100000e-01
GUCY2F	2986	broad.mit.edu	37	X	108628419	108628419	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:108628419C>A	ENST00000218006.2	-	16	3340	c.3049G>T	c.(3049-3051)Ggc>Tgc	p.G1017C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal			67					TCACGTAAGCCTGTAGATTCC	0.493000																								0							SO:0001583	missense			ENST00000218006.2	1	1	hg19	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635813	0.67130	.	.	ENSG00000101890	ENST00000218006	D	0.86497	-2.13	4.24	4.24	0.50183	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.81614	2.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.93696	0.7011	10	0.87932	D	0	.	13.4908	0.61393	0.0:1.0:0.0:0.0	.	1017	P51841	GUC2F_HUMAN	C	1017	ENSP00000218006:G1017C	ENSP00000218006:G1017C	G	-	1	0	GUCY2F	108515075	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	4.778000	0.62368	2.350000	0.79820	0.600000	0.82982	GGC		TCGA-IB-7651-01A-11D-2154-08	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	1	0	1	67	285	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	65	280	0	85	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM164	84187	broad.mit.edu	37	X	109416479	109416479	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109416479G>A	ENST00000372073.1	+	7	1030	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K			Q5U3C3	TM164_HUMAN	transmembrane protein 164	p.E193K(1)|p.E232K(1)		14					GCAGGTCACCGAAGTGAATTT	0.547000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000372073.1	1	1	hg19	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	g	15.35	2.807907	0.50421	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.52	5.52	0.82312	.	0.045262	0.85682	N	0.000000	T	0.37517	0.1006	L	0.49350	1.555	0.80722	D	1	P;P	0.47545	0.897;0.584	B;B	0.35114	0.196;0.064	T	0.33292	-0.9874	10	0.41790	T	0.15	-3.7445	18.5819	0.91174	0.0:0.0:1.0:0.0	.	193;232	Q9H617;Q5U3C3	.;TM164_HUMAN	K	83;232;232;193;193	ENSP00000384075:E83K;ENSP00000361143:E232K;ENSP00000361138:E232K;ENSP00000288381:E193K	ENSP00000288381:E193K	E	+	1	0	TMEM164	109303135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.331000	0.79229	0.525000	0.51046	GAA		TCGA-IB-7651-01A-11D-2154-08	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	1	0	1	84	297	0	91	1	1	78	27	0	91	2		0	0	0	0	0	2	1	1	83	293	0	91	2								-20.000000	1	1	121410	1	30	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGAG1	57529	broad.mit.edu	37	X	109695829	109695829	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109695829G>T	ENST00000465301.2	+	3	2230	c.1984G>T	c.(1984-1986)Gcc>Tcc	p.A662S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1			73					GACAGACACAGCCTCTGGAGG	0.512000																								0							SO:0001583	missense			ENST00000465301.2	1	1	hg19	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231386	0.09969	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.55052	0.54;0.54	4.21	2.44	0.29823	.	0.442010	0.16858	N	0.196635	T	0.42607	0.1210	L	0.46157	1.445	0.09310	N	1	B	0.22683	0.073	B	0.30855	0.121	T	0.31475	-0.9942	9	.	.	.	-1.1739	5.4762	0.16697	0.3577:0.0:0.6423:0.0	.	662	Q8NET4	RGAG1_HUMAN	S	662	ENSP00000419786:A662S;ENSP00000441452:A662S	.	A	+	1	0	RGAG1	109582485	0.946000	0.32159	0.009000	0.14445	0.335000	0.28730	1.758000	0.38410	0.544000	0.28883	0.529000	0.55759	GCC		TCGA-IB-7651-01A-11D-2154-08	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	1	0	1	76	243	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	1	74	238	0	65	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGAG1	57529	broad.mit.edu	37	X	109696078	109696078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109696078C>T	ENST00000465301.2	+	3	2479	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1			73					TGGAGGGATGCAGATGAATTC	0.527000																								0							SO:0001587	stop_gained			ENST00000465301.2	0	1	hg19	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093506	0.76756	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	.	.	.	4.15	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0686	0.47989	0.0:0.8149:0.1851:0.0	.	.	.	.	X	745	.	.	Q	+	1	0	RGAG1	109582734	0.004000	0.15560	0.011000	0.14972	0.023000	0.10783	1.169000	0.31871	1.087000	0.41251	0.600000	0.82982	CAG		TCGA-IB-7651-01A-11D-2154-08	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	1	0	0	98	339	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	97	332	0	123	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALG13	79868	broad.mit.edu	37	X	110954908	110954908	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:110954908G>A	ENST00000394780.3	+	6	852	c.840G>A	c.(838-840)gtG>gtA	p.V280V	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.V176V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit			13					TGAAGTATGTGGAGGGATCTT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000394780.3	1	1	hg19	CCDS55477.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	1	0	1	34	114	0	40	0	7.074188e-01	1	9	0	40	2		0	0	0	0	0	2	1	1	34	113	0	40	2								-3.919025	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC5	7224	broad.mit.edu	37	X	111090508	111090508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111090508G>A	ENST00000262839.2	-	6	2452	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5			62					AGCAGCATGCGTCCCAAAGAG	0.443000																								0							SO:0001583	missense			ENST00000262839.2	1	1	hg19	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429090	0.62844	.	.	ENSG00000072315	ENST00000262839	D	0.98747	-5.11	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.99537	1.0962	10	0.62326	D	0.03	-12.7276	13.2903	0.60267	0.0:0.0:0.8419:0.1581	.	513;512	Q59G51;Q9UL62	.;TRPC5_HUMAN	C	512	ENSP00000262839:R512C	ENSP00000262839:R512C	R	-	1	0	TRPC5	110977164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.799000	0.55529	2.261000	0.74972	0.436000	0.28706	CGC		TCGA-IB-7651-01A-11D-2154-08	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	0	0	1	111	387	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1	110	380	0	129	2								-20.000000	1	1	121410	2	36	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRPC5	7224	broad.mit.edu	37	X	111097131	111097131	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097131G>T	ENST00000262839.2	-	4	2022	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5			62					CTGTGTGGCAGATAAACTTGA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000262839.2	1	1	hg19	CCDS14561.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	1	0	1	53	403	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1	53	397	0	137	2								-19.656320	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999464	0.990000	1	9.900000e-01	1
TRPC5	7224	broad.mit.edu	37	X	111155577	111155577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111155577G>A	ENST00000262839.2	-	3	1760	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5			62					GTACTTCTGAGGGTCAAGCTC	0.507000																								0							SO:0001583	missense			ENST00000262839.2	1	1	hg19	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655314	0.47467	.	.	ENSG00000072315	ENST00000262839	T	0.62498	0.02	6.17	6.17	0.99709	.	0.163888	0.53938	D	0.000042	T	0.54791	0.1880	L	0.33339	1.005	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12837	0.003;0.008	T	0.45818	-0.9235	10	0.23891	T	0.37	-35.0497	19.7362	0.96205	0.0:0.0:1.0:0.0	.	282;281	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	281	ENSP00000262839:P281L	ENSP00000262839:P281L	P	-	2	0	TRPC5	111042233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.273000	0.43381	2.618000	0.88619	0.600000	0.82982	CCT		TCGA-IB-7651-01A-11D-2154-08	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	1	0	1	172	567	0	182		0	0	0	0	182	2		0	0	0	0	0	2	1	1	171	556	0	182	2								-4.474605	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP6	395	broad.mit.edu	37	X	11157333	11157333	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11157333G>T	ENST00000337414.4	-	13	3447	c.2575C>A	c.(2575-2577)Ctg>Atg	p.L859M	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6			38					CGGCTCTGCAGCCCGGCCACA	0.706000																								0							SO:0001583	missense			ENST00000337414.4	1	1	hg19	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944809	0.34283	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.24723	1.85;1.85;1.84	5.12	4.24	0.50183	.	1.112630	0.07024	N	0.827272	T	0.22437	0.0541	L	0.51422	1.61	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.34722	0.188;0.188	T	0.24119	-1.0169	10	0.45353	T	0.12	.	4.1956	0.10441	0.2167:0.0:0.5931:0.1901	.	859;859	O43182;A8KAL3	RHG06_HUMAN;.	M	656;656;859	ENSP00000370112:L656M;ENSP00000302312:L656M;ENSP00000338967:L859M	ENSP00000302312:L656M	L	-	1	2	ARHGAP6	11067254	0.088000	0.21588	0.626000	0.29213	0.025000	0.11179	1.709000	0.37909	2.116000	0.64780	0.594000	0.82650	CTG		TCGA-IB-7651-01A-11D-2154-08	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	1	0	0	20	71	0	10	0	4.061804e-01	1	5	0	10	2		0	0	0	0	0	2	1	9.999979e-01	20	70	0	10	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999980	0.990000	1	9.900000e-01	1
ARHGAP6	395	broad.mit.edu	37	X	11160378	11160378	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11160378G>A	ENST00000337414.4	-	12	3104	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	ARHGAP6_ENST00000534860.1_Silent_p.S569S|ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000380736.1_Silent_p.S541S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	p.S744S(1)		38					CTTTGGATCCGCTTTTTAATG	0.303000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000337414.4	1	1	hg19	CCDS14140.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	1	0	0	76	299	0	121	0	7.310164e-01	0	12	0	121	2		0	0	0	0	0	2	1	1	74	297	0	120	2								-3.686805	1	1	121412	9	41	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMOT	154796	broad.mit.edu	37	X	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112048243G>A	ENST00000524145.1	-	6	1782	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.R570*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*			Q4VCS5	AMOT_HUMAN	angiomotin			43					TCGATGTGTCGTCTTTGGTCC	0.512000																								0							SO:0001587	stop_gained			ENST00000524145.1	0	1	hg19	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	g	39	7.434134	0.98282	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.96	4.17	0.49024	.	0.054811	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5027	12.9983	0.58660	0.0:0.0:0.4395:0.5605	.	.	.	.	X	161;570;338;570;338	.	ENSP00000305557:R161X	R	-	1	2	AMOT	111934899	0.999000	0.42202	0.985000	0.45067	0.996000	0.88848	2.872000	0.48467	0.623000	0.30267	0.597000	0.82753	CGA		TCGA-IB-7651-01A-11D-2154-08	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	1	0	1	246	967	0	244	1	7.735151e-01	4	9	0	244	2		0	0	0	0	0	2	1	1	243	939	0	244	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AMOT	154796	broad.mit.edu	37	X	112054512	112054512	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112054512A>G	ENST00000524145.1	-	4	1576	c.1502T>C	c.(1501-1503)aTt>aCt	p.I501T	AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000371962.1_Missense_Mutation_p.I269T|AMOT_ENST00000371959.3_Missense_Mutation_p.I501T|AMOT_ENST00000371958.1_Missense_Mutation_p.I269T			Q4VCS5	AMOT_HUMAN	angiomotin			43					CATCCTCCGAATCTCGCCCTC	0.517000																								0							SO:0001583	missense			ENST00000524145.1	1	1	hg19	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262921	0.59431	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.89	5.89	0.94794	.	0.105412	0.64402	D	0.000003	T	0.42245	0.1194	M	0.79123	2.44	0.50467	D	0.999876	D	0.53151	0.958	P	0.50082	0.63	T	0.46020	-0.9221	10	0.72032	D	0.01	-15.3733	14.3202	0.66482	1.0:0.0:0.0:0.0	.	501	Q4VCS5	AMOT_HUMAN	T	92;501;269;501;269	ENSP00000305557:I92T;ENSP00000361027:I501T;ENSP00000361030:I269T;ENSP00000429013:I501T;ENSP00000361026:I269T	ENSP00000305557:I92T	I	-	2	0	AMOT	111941168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	1.980000	0.57719	0.486000	0.48141	ATT		TCGA-IB-7651-01A-11D-2154-08	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	1	0	1	180	719	0	200	0	4.986301e-01	0	7	0	200	2		0	0	0	0	0	2	1	1	175	703	0	198	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGAP6	395	broad.mit.edu	37	X	11207077	11207077	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11207077G>A	ENST00000337414.4	-	4	1720	c.848C>T	c.(847-849)cCc>cTc	p.P283L	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6			38					TTGGGATAAGGGCATTCCAAA	0.458000																								0							SO:0001583	missense			ENST00000337414.4	1	1	hg19	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370066	0.82573	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.33865	1.42;1.48;1.48;1.45;1.39;1.48;1.59;1.66	5.51	5.51	0.81932	Rho GTPase-activating protein domain (1);	0.000000	0.53938	D	0.000055	T	0.54447	0.1859	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.76494	0.994;0.987;0.998;0.997;0.999	P;P;D;P;D	0.66847	0.737;0.824;0.941;0.904;0.947	T	0.56269	-0.8007	10	0.72032	D	0.01	.	18.5172	0.90939	0.0:0.0:1.0:0.0	.	92;80;283;283;283	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	108;80;80;283;119;283;92;315	ENSP00000438135:P108L;ENSP00000370112:P80L;ENSP00000302312:P80L;ENSP00000338967:P283L;ENSP00000370093:P119L;ENSP00000370094:P283L;ENSP00000389394:P92L;ENSP00000370108:P315L	ENSP00000302312:P80L	P	-	2	0	ARHGAP6	11116998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.315000	0.78130	0.600000	0.82982	CCC		TCGA-IB-7651-01A-11D-2154-08	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	1	0	0	18	260	0	45	0	4.620814e-01	0	23	0	45	2		0	0	0	0	0	2	1	9.999839e-01	18	259	0	45	2								-19.988290	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.760000	0.470000	1.000000	1.000000	0.772997	0.760000	0	6.000000e-01	9.500000e-01
LRCH2	57631	broad.mit.edu	37	X	114404869	114404869	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:114404869T>G	ENST00000317135.8	-	6	1021	c.991A>C	c.(991-993)Aca>Cca	p.T331P	LRCH2_ENST00000538422.1_Missense_Mutation_p.T331P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2			19					TACCTGTCTGTGAGAGGCTGT	0.333000																								0							SO:0001583	missense			ENST00000317135.8	0	1	hg19	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.693341	0.68386	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.00902	5.6;5.56	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.987;0.966	T	0.64407	-0.6415	10	0.27082	T	0.32	-13.9619	13.7074	0.62648	0.0:0.0:0.0:1.0	.	331;331	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	P	331	ENSP00000325091:T331P;ENSP00000439366:T331P	ENSP00000325091:T331P	T	-	1	0	LRCH2	114311125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.662000	0.83803	1.917000	0.55516	0.481000	0.45027	ACA		TCGA-IB-7651-01A-11D-2154-08	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	1	0	1	8	37	0	11	0	5.761089e-01	0	10	0	11	2		0	0	0	0	0	2	1	9.916517e-01	8	37	0	11	2								-3.703807	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.890000	1.000000	1.000000	0.993664	0.990000	1	9.900000e-01	1
DOCK11	139818	broad.mit.edu	37	X	117676803	117676803	+	Splice_Site	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:117676803C>A	ENST00000276202.7	+	2	281	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	DOCK11_ENST00000276204.6_Splice_Site_p.S73Y	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11			84					GAAGATATATCTGTGAGTTCA	0.403000																								0							SO:0001630	splice_region_variant			ENST00000276202.7	1	0	hg19	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708339	0.68615	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.46063	0.88;0.88	5.37	5.37	0.77165	.	0.202957	0.44285	D	0.000473	T	0.46698	0.1406	M	0.69358	2.11	0.46260	D	0.998954	P	0.37636	0.603	B	0.42593	0.392	T	0.52056	-0.8626	10	0.87932	D	0	-31.1697	10.5212	0.44920	0.0:0.9077:0.0:0.0923	.	73	Q5JSL3	DOC11_HUMAN	Y	73	ENSP00000276204:S73Y;ENSP00000276202:S73Y	ENSP00000276202:S73Y	S	+	2	0	DOCK11	117560831	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.953000	0.49105	2.235000	0.73313	0.590000	0.80494	TCT		TCGA-IB-7651-01A-11D-2154-08	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	1	0	0	32	679	0	146	0	1.205120e-01	0	13	0	146	2		0	0	0	0	0	2	1	1	32	669	0	145	2								-4.621396	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.520000	0.360000	0.720000	0.520000	0.540766	0.520000	0	4.400000e-01	6.300000e-01
LONRF3	79836	broad.mit.edu	37	X	118112410	118112410	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118112410G>A	ENST00000371628.3	+	2	951	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_5'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3			36					TGTAAGCTCCGCCCGATGGGT	0.498000																								0							SO:0001583	missense			ENST00000371628.3	1	1	hg19	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652612	0.67472	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.60171	0.21;0.21;0.21	5.46	4.41	0.53225	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.369547	0.26812	N	0.022377	T	0.52645	0.1747	L	0.29908	0.895	0.80722	D	1	D;D	0.55605	0.964;0.972	P;P	0.53954	0.666;0.738	T	0.54879	-0.8227	10	0.59425	D	0.04	-3.9659	6.1812	0.20472	0.2769:0.0:0.7231:0.0	.	307;307	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	H	307	ENSP00000360691:R307H;ENSP00000307732:R307H;ENSP00000360690:R307H	ENSP00000307732:R307H	R	+	2	0	LONRF3	117996438	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.323000	0.52014	2.301000	0.77427	0.600000	0.82982	CGC		TCGA-IB-7651-01A-11D-2154-08	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	1	0	1	63	265	0	87	1	9.779574e-01	23	5	0	87	2		0	0	0	0	0	2	1	1	62	257	0	87	2								-20.000000	1	1	121410	2	34	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1210	57481	broad.mit.edu	37	X	118223067	118223067	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118223067C>A	ENST00000402510.2	-	11	2125	c.2126G>T	c.(2125-2127)aGc>aTc	p.S709I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210			64					TAAATCAAAGCTGAAAGCTTC	0.428000																								0							SO:0001583	missense			ENST00000402510.2	1	1	hg19	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.565356|2.565356	0.45694|0.45694	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.13657	.|2.57	4.44|4.44	3.57|3.57	0.40892|0.40892	.|.	.|.	.|.	.|.	.|.	T|T	0.16128|0.16128	0.0388|0.0388	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D	.|0.56035	.|0.974	.|P	.|0.50270	.|0.636	T|T	0.07731|0.07731	-1.0757|-1.0757	5|9	.|0.72032	.|D	.|0.01	.|.	8.7899|8.7899	0.34843|0.34843	0.2236:0.7764:0.0:0.0|0.2236:0.7764:0.0:0.0	.|.	.|709	.|Q9ULL0	.|K1210_HUMAN	H|I	115|709	.|ENSP00000384670:S709I	.|ENSP00000384670:S709I	Q|S	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118107095|118107095	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.029000|0.029000	0.11900|0.11900	-0.033000|-0.033000	0.12246|0.12246	1.205000|1.205000	0.43262|0.43262	0.506000|0.506000	0.49869|0.49869	CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	1	0	1	54	176	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	54	175	0	58	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1210	57481	broad.mit.edu	37	X	118239009	118239009	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118239009T>C	ENST00000402510.2	-	7	1013	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210			64					GATTCTTAGGTGACTCATCAT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000402510.2	1	1	hg19	CCDS48156.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	0	0	0	24	744	0	184		0	0	0	0	184	2		0	0	0	0	0	2	1	9.999996e-01	24	733	0	183	2								-3.653864	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.360000	0.240000	0.530000	0.360000	0.379533	0.360000	0	2.900000e-01	4.500000e-01
NKRF	55922	broad.mit.edu	37	X	118724025	118724025	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724025G>A	ENST00000371527.1	-	2	2015	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	NKRF_ENST00000542113.1_Silent_p.L470L|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.L455L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor			30					GTGTCGTTCAGCGTGCACACG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000371527.1	1	1	hg19	CCDS35375.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	1	0	1	137	355	0	123	1	9.999966e-01	35	15	0	123	2		0	0	0	0	0	2	1	1	131	349	0	123	2								-20.000000	1	1	121408	2	31	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKRF	55922	broad.mit.edu	37	X	118724252	118724252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724252C>T	ENST00000371527.1	-	2	1788	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor			30					TAAAAACACTCGACAACGCCA	0.383000																								0							SO:0001583	missense			ENST00000371527.1	1	1	hg19	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642932	0.14451	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	D;D;D	0.98012	-4.66;-4.66;-4.66	5.85	1.13	0.20643	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.290936	0.36740	N	0.002436	D	0.91178	0.7221	N	0.08118	0	0.26124	N	0.980517	B	0.12013	0.005	B	0.04013	0.001	T	0.81493	-0.0908	10	0.19147	T	0.46	-1.4355	10.8277	0.46643	0.0:0.5473:0.0:0.4527	.	379	O15226	NKRF_HUMAN	Q	379;379;394	ENSP00000360582:R379Q;ENSP00000304803:R379Q;ENSP00000442308:R394Q	ENSP00000304803:R379Q	R	-	2	0	NKRF	118608280	0.262000	0.24073	0.982000	0.44146	0.998000	0.95712	0.814000	0.27239	0.141000	0.18875	0.600000	0.82982	CGA		TCGA-IB-7651-01A-11D-2154-08	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	0	0	0	19	549	0	126	1	3.343119e-01	2	32	0	126	2		0	0	0	0	0	2	1	9.999888e-01	19	537	0	126	2								-2.953916	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.390000	0.240000	0.590000	0.390000	0.409243	0.390000	0	3.100000e-01	4.900000e-01
UPF3B	65109	broad.mit.edu	37	X	118972012	118972012	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118972012G>T	ENST00000276201.2	-	10	1079	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H|UPF3B_ENST00000478840.1_5'Flank	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)			30					CTCATCTTCAGGTCTGCATGA	0.473000																								0							SO:0001583	missense			ENST00000276201.2	1	1	hg19	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562328	0.13498	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.77098	-1.06;-1.07	5.68	1.5	0.22942	.	1.350910	0.04170	N	0.324587	T	0.73651	0.3614	L	0.54323	1.7	0.09310	N	1	B;B	0.28584	0.216;0.042	B;B	0.30572	0.117;0.054	T	0.56703	-0.7935	10	0.62326	D	0.03	.	4.7105	0.12870	0.3564:0.0:0.5039:0.1397	.	324;337	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	337;324	ENSP00000276201:P337H;ENSP00000245418:P324H	ENSP00000276201:P337H	P	-	2	0	UPF3B	118856040	0.010000	0.17322	0.005000	0.12908	0.050000	0.14768	0.624000	0.24462	-0.143000	0.11334	-0.212000	0.12691	CCT		TCGA-IB-7651-01A-11D-2154-08	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1	1	0	1	65	538	0	128	1	9.980030e-01	22	56	0	128	2		0	0	0	0	0	2	1	1	64	523	0	127	2								-3.142702	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.998776	0.990000	1	9.900000e-01	1
AKAP14	158798	broad.mit.edu	37	X	119054470	119054470	+	Splice_Site	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119054470G>T	ENST00000371431.3	+	7	768		c.e7-1		AKAP14_ENST00000371423.2_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site|AKAP14_ENST00000371425.4_Splice_Site|AKAP14_ENST00000491105.1_Splice_Site|RP3-327A19.5_ENST00000455986.1_RNA	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14			13					TTCCTTTGTAGACCAGGAATG	0.333000																								0							SO:0001630	splice_region_variant			ENST00000371431.3	1	1	hg19	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975120	0.18736	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000334356	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8915	0.79303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP14	118938498	1.000000	0.71417	0.975000	0.42487	0.075000	0.17131	5.568000	0.67385	2.136000	0.66102	0.513000	0.50165	.		TCGA-IB-7651-01A-11D-2154-08	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	1	0	1	44	181	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	45	176	0	55	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKAP	79576	broad.mit.edu	37	X	119068457	119068457	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119068457G>A	ENST00000371410.3	-	5	903	c.737C>T	c.(736-738)tCg>tTg	p.S246L	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein			20					AAAAACTGACGATCTGTGTTT	0.289000																								0							SO:0001630	splice_region_variant			ENST00000371410.3	1	0	hg19	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	3.830	-0.035889	0.07497	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	3.87	1.96	0.26148	.	1.093730	0.06943	N	0.813167	T	0.09423	0.0232	N	0.19112	0.55	0.26990	N	0.965166	B;P	0.35700	0.043;0.516	B;B	0.22601	0.008;0.04	T	0.32455	-0.9906	9	.	.	.	0.1973	8.1561	0.31169	0.0:0.3212:0.5201:0.1587	.	246;246	Q8N5F7;A0PJ73	NKAP_HUMAN;.	L	246	ENSP00000360464:S246L	.	S	-	2	0	NKAP	118952485	1.000000	0.71417	0.386000	0.26170	0.002000	0.02628	1.463000	0.35277	0.224000	0.20940	-0.322000	0.08575	TCG		TCGA-IB-7651-01A-11D-2154-08	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	1	0	0	63	279	0	61	1	9.999944e-01	21	60	0	61	2		0	0	0	0	0	2	1	1	57	267	0	61	2								-3.442495	1	1	121324	3	35	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NKAP	79576	broad.mit.edu	37	X	119070262	119070262	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119070262C>T	ENST00000371410.3	-	4	837	c.671G>A	c.(670-672)aGt>aAt	p.S224N	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein			20					GTTCTTACCACTGGAGTCTGT	0.348000																								0							SO:0001583	missense			ENST00000371410.3	1	1	hg19	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268188	0.23136	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	5.02	4.13	0.48395	.	0.323216	0.35772	N	0.002996	T	0.19485	0.0468	L	0.33245	0.995	0.38041	D	0.935452	P;P	0.51791	0.948;0.939	P;P	0.52598	0.508;0.703	T	0.02933	-1.1092	10	0.28530	T	0.3	-6.188	10.8319	0.46665	0.0:0.9031:0.0:0.0969	.	224;224	Q8N5F7;A0PJ73	NKAP_HUMAN;.	N	224	ENSP00000360464:S224N	ENSP00000360464:S224N	S	-	2	0	NKAP	118954290	1.000000	0.71417	0.679000	0.29978	0.969000	0.65631	2.600000	0.46240	2.225000	0.72522	0.594000	0.82650	AGT		TCGA-IB-7651-01A-11D-2154-08	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	0	0	0	16	438	0	128	1	9.559532e-01	12	133	0	128	2		0	0	0	0	0	2	1	9.999242e-01	15	430	0	128	2								-3.641039	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.410000	0.240000	0.640000	0.410000	0.433878	0.410000	0	3.200000e-01	5.300000e-01
CUL4B	8450	broad.mit.edu	37	X	119668403	119668403	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668403C>T	ENST00000404115.3	-	19	2654	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	CUL4B_ENST00000336592.6_Silent_p.L738L|CUL4B_ENST00000371322.5_Silent_p.L733L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B			36					TTAGCAGCACCAGTGTTTGAA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000404115.3	1	1	hg19	CCDS35379.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	1	0	1	132	567	0	192	1	1	58	70	0	192	2		0	0	0	0	0	2	1	1	132	561	0	192	2								-2.926516	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CUL4B	8450	broad.mit.edu	37	X	119668405	119668405	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668405G>A	ENST00000404115.3	-	19	2652	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	CUL4B_ENST00000336592.6_Silent_p.L738L|CUL4B_ENST00000371322.5_Silent_p.L733L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B			36					AGCAGCACCAGTGTTTGAAAA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000404115.3	1	1	hg19	CCDS35379.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	0	0	0	23	673	0	189	1	9.243601e-01	11	119	0	189	2		0	0	0	0	0	2	1	9.999993e-01	23	666	0	189	2								-3.578757	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.390000	0.250000	0.560000	0.380000	0.401672	0.390000	0	3.100000e-01	4.800000e-01
CUL4B	8450	broad.mit.edu	37	X	119674407	119674407	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119674407C>A	ENST00000404115.3	-	13	1909	c.1508G>T	c.(1507-1509)aGc>aTc	p.S503I	CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I|CUL4B_ENST00000371322.5_Missense_Mutation_p.S485I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B			36					TACAATAGTGCTGCCAAATGC	0.294000																								0							SO:0001583	missense			ENST00000404115.3	1	1	hg19	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	7.939	0.742296	0.15642	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73575	-0.76;-0.76;-0.76	5.42	4.55	0.56014	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	L	0.33710	1.025	0.80722	D	1	B;P;P	0.35684	0.004;0.515;0.459	B;B;B	0.37015	0.015;0.239;0.154	T	0.60642	-0.7223	9	.	.	.	-10.2043	14.4351	0.67274	0.0:0.8559:0.1441:0.0	.	307;503;485	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	I	485;490;503	ENSP00000360373:S485I;ENSP00000338919:S490I;ENSP00000384109:S503I	.	S	-	2	0	CUL4B	119558435	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	5.954000	0.70298	1.055000	0.40461	-0.346000	0.07831	AGC		TCGA-IB-7651-01A-11D-2154-08	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	1	0	1	37	133	0	35	1	1	61	63	0	35	2		0	0	0	0	0	2	1	1	37	132	0	35	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLUD2	2747	broad.mit.edu	37	X	120182660	120182660	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182660C>T	ENST00000328078.1	+	1	1199	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2			38					TCTTGGAGGTCGACTGTGACA	0.502000																								0							SO:0001819	synonymous_variant			ENST00000328078.1	1	1	hg19	CCDS14603.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	0	0	1	203	629	0	220	1	6.182494e-01	7	1	0	220	2		0	0	0	0	0	2	1	1	199	620	0	220	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLUD2	2747	broad.mit.edu	37	X	120182956	120182956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182956G>A	ENST00000328078.1	+	1	1495	c.1418G>A	c.(1417-1419)aGt>aAt	p.S473N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2			38					GTTCAAGAGAGTTTAGAAAGA	0.418000																								0							SO:0001583	missense			ENST00000328078.1	1	1	hg19	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207067	0.58343	.	.	ENSG00000182890	ENST00000328078	D	0.96651	-4.08	2.05	2.05	0.26809	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.83118	2.625	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.96868	0.9637	10	0.62326	D	0.03	.	9.4506	0.38723	0.0:0.0:1.0:0.0	.	473	P49448	DHE4_HUMAN	N	473	ENSP00000327589:S473N	ENSP00000327589:S473N	S	+	2	0	GLUD2	120010637	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.189000	0.72051	1.080000	0.41073	0.406000	0.27484	AGT		TCGA-IB-7651-01A-11D-2154-08	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	1	0	1	138	455	0	142	1	1.387058e-01	3	0	0	142	2		0	0	0	0	0	2	1	1	134	449	0	144	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THOC2	57187	broad.mit.edu	37	X	122755365	122755365	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122755365C>A	ENST00000245838.8	-	31	3890	c.3859G>T	c.(3859-3861)Gct>Tct	p.A1287S	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Missense_Mutation_p.A1172S|THOC2_ENST00000355725.4_Missense_Mutation_p.A1287S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2			63					GGAGTAGTAGCTGGAGtcttt	0.358000																								0							SO:0001583	missense			ENST00000245838.8	1	1	hg19	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.311160|1.311160	0.23821|0.23821	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000441692	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.05|5.05	3.29|3.29	0.37713|0.37713	.|.	0.182458|.	0.37437|.	N|.	0.002099|.	T|T	0.38188|0.38188	0.1031|0.1031	N|N	0.17082|0.17082	0.46|0.46	0.39160|0.39160	D|D	0.962395|0.962395	B|.	0.20368|.	0.044|.	B|.	0.19148|.	0.024|.	T|T	0.13737|0.13737	-1.0498|-1.0498	10|5	0.02654|.	T|.	1|.	-2.7332|-2.7332	9.2462|9.2462	0.37527|0.37527	0.0:0.7591:0.0:0.2409|0.0:0.7591:0.0:0.2409	.|.	1287|.	Q8NI27|.	THOC2_HUMAN|.	S|H	1287;1287;1172|54	ENSP00000245838:A1287S;ENSP00000347959:A1287S;ENSP00000419795:A1172S|.	ENSP00000245838:A1287S|.	A|Q	-|-	1|3	0|2	THOC2|THOC2	122583046|122583046	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	4.594000|4.594000	0.61041|0.61041	0.479000|0.479000	0.27511|0.27511	0.600000|0.600000	0.82982|0.82982	GCT|CAG		TCGA-IB-7651-01A-11D-2154-08	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3	1	0	0	118	343	0	92	1	1	61	45	0	92	2		0	0	0	0	0	2	1	1	116	333	0	92	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
THOC2	57187	broad.mit.edu	37	X	122829989	122829989	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122829989T>C	ENST00000245838.8	-	7	514	c.483A>G	c.(481-483)aaA>aaG	p.K161K	THOC2_ENST00000491737.1_Silent_p.K46K|THOC2_ENST00000355725.4_Silent_p.K161K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2			63					ACAAATTGAATTTTTGCTGCT	0.299000																								0							SO:0001819	synonymous_variant			ENST00000245838.8	1	1	hg19	CCDS43988.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3	1	0	1	46	129	0	73	1	9.998957e-01	28	15	0	73	2		0	0	0	0	0	2	1	1	45	128	0	73	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF12L2	340578	broad.mit.edu	37	X	125299095	125299095	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299095G>A	ENST00000360028.2	-	1	839	c.813C>T	c.(811-813)agC>agT	p.S271S	DCAF12L2_ENST00000538699.1_Silent_p.S271S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2			64					GGTTCTTGCCGCTGAAGGCCA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000360028.2	1	1	hg19	CCDS43991.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	1	0	0	84	291	0	82	0	0	0	1	0	82	2		0	0	0	0	0	2	1	1	83	285	0	82	2								-4.253434	1	0	121408	1	31	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DCAF12L2	340578	broad.mit.edu	37	X	125299102	125299102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299102G>A	ENST00000360028.2	-	1	832	c.806C>T	c.(805-807)gCc>gTc	p.A269V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A269V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2			64					GCCGCTGAAGGCCAGGGCCCG	0.637000																								0							SO:0001583	missense			ENST00000360028.2	1	1	hg19	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666061	0.67700	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66995	-0.24;-0.24	3.72	2.81	0.32909	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36134	N	0.002769	T	0.76026	0.3930	M	0.66939	2.045	0.35993	D	0.836822	D	0.89917	1.0	D	0.83275	0.996	T	0.78768	-0.2075	10	0.51188	T	0.08	.	7.8955	0.29704	0.0:0.2492:0.7508:0.0	.	269	Q5VW00	DC122_HUMAN	V	269	ENSP00000441489:A269V;ENSP00000353128:A269V	ENSP00000353128:A269V	A	-	2	0	DCAF12L2	125126783	1.000000	0.71417	0.930000	0.37139	0.970000	0.65996	8.043000	0.89432	0.876000	0.35872	0.544000	0.68410	GCC		TCGA-IB-7651-01A-11D-2154-08	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	1	0	1	80	286	0	79	0	0	0	1	0	79	2		0	0	0	0	0	2	1	1	78	282	0	79	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMPD4	9758	broad.mit.edu	37	X	12725605	12725605	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12725605G>A	ENST00000380682.1	+	13	1811	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4			22					AAAAGCGCTCGGAAGTGACTC	0.443000																								0							SO:0001819	synonymous_variant			ENST00000380682.1	1	1	hg19	CCDS35201.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	0	0	0	15	471	0	128	0	0	0	1	0	128	2		0	0	0	0	0	2	1	9.998606e-01	14	465	0	128	2								-2.539047	1	1	121412	1	35	1	0	1	1			0.170000	2.060000	1.700000e-01	0.360000	0.210000	0.570000	0.360000	0.381849	0.360000	0	2.800000e-01	4.700000e-01
FRMPD4	9758	broad.mit.edu	37	X	12735057	12735057	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12735057G>A	ENST00000380682.1	+	15	2985	c.2479G>A	c.(2479-2481)Gca>Aca	p.A827T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4			22					TCAGAGCCAGGCAGCTTCCTT	0.562000																								0							SO:0001583	missense			ENST00000380682.1	1	1	hg19	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751744	0.31046	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.32515	1.45	5.26	4.38	0.52667	.	0.390669	0.26769	N	0.022586	T	0.22437	0.0541	L	0.40543	1.245	0.29218	N	0.874119	B;B	0.18863	0.031;0.031	B;B	0.15870	0.014;0.01	T	0.06734	-1.0810	10	0.44086	T	0.13	.	6.6097	0.22745	0.1509:0.0:0.6928:0.1562	.	819;827	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	827;818;816	ENSP00000370057:A827T	ENSP00000304583:A816T	A	+	1	0	FRMPD4	12644978	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	2.658000	0.46733	2.334000	0.79466	0.600000	0.82982	GCA		TCGA-IB-7651-01A-11D-2154-08	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	1	0	1	105	326	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1	103	320	0	123	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMARCA1	6594	broad.mit.edu	37	X	128582342	128582342	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128582342C>A	ENST00000371122.4	-	24	3238	c.3109G>T	c.(3109-3111)Gaa>Taa	p.E1037*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1			45					TTCTTCTTTTCTGCTCTCTCT	0.313000																								0							SO:0001587	stop_gained			ENST00000371122.4	0	1	hg19	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	39	7.403897	0.98262	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-21.9902	19.3889	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1025;1037	.	ENSP00000360162:E1025X	E	-	1	0	SMARCA1	128410023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.177000	0.71961	2.618000	0.88619	0.600000	0.82982	GAA		TCGA-IB-7651-01A-11D-2154-08	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	1	0	1	82	268	0	82	0	1	1	128	0	82	2		0	0	0	0	0	2	1	1	82	261	0	81	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OCRL	4952	broad.mit.edu	37	X	128691392	128691392	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128691392C>T	ENST00000371113.4	+	5	494	c.329C>T	c.(328-330)gCt>gTt	p.A110V	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe			48					TTCCTCTCAGCTGTCCTTGCT	0.463000																								0							SO:0001583	missense			ENST00000371113.4	1	1	hg19	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949666	0.53186	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94138	-3.36;-3.36	5.32	4.14	0.48551	.	0.616585	0.17225	N	0.182195	D	0.85089	0.5617	N	0.08118	0	0.25635	N	0.986265	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.76310	-0.3006	10	0.87932	D	0	.	10.5884	0.45296	0.8376:0.1624:0.0:0.0	.	110;110	Q01968-2;Q01968	.;OCRL_HUMAN	V	110	ENSP00000360154:A110V;ENSP00000349635:A110V	ENSP00000349635:A110V	A	+	2	0	OCRL	128519073	0.998000	0.40836	0.998000	0.56505	0.976000	0.68499	4.413000	0.59795	0.667000	0.31107	-0.328000	0.08392	GCT		TCGA-IB-7651-01A-11D-2154-08	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	1	0	1	35	124	0	49	1	9.703886e-01	9	14	0	49	2		0	0	0	0	0	2	1	1	35	123	0	49	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XPNPEP2	7512	broad.mit.edu	37	X	128880624	128880624	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128880624C>T	ENST00000371106.3	+	6	649	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R153C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound			37					TGCTGGAGGGCGTGTGGGTTT	0.522000																								0							SO:0001583	missense			ENST00000371106.3	0	1	hg19	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464311	0.43736	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	T	0.75938	-0.98	5.57	-1.49	0.08718	Creatinase (1);	1.196100	0.05649	N	0.584917	T	0.72898	0.3518	L	0.46947	1.48	0.09310	N	1	P;D	0.62365	0.883;0.991	B;P	0.54100	0.209;0.742	T	0.60393	-0.7272	10	0.52906	T	0.07	-10.3433	3.1445	0.06467	0.3281:0.4451:0.1041:0.1227	.	153;153	B4DV70;O43895	.;XPP2_HUMAN	C	153	ENSP00000360147:R153C	ENSP00000360146:R153C	R	+	1	0	XPNPEP2	128708305	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.091000	0.11146	-0.347000	0.08299	-1.916000	0.00518	CGT		TCGA-IB-7651-01A-11D-2154-08	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	0	0	0	15	739	0	184		0	0	0	0	184	2		0	0	0	0	0	2	1	9.998385e-01	15	717	0	183	2								-2.691101	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.230000	0.130000	0.370000	0.240000	0.247363	0.230000	0	1.800000e-01	3.100000e-01
UTP14A	10813	broad.mit.edu	37	X	129045772	129045772	+	Missense_Mutation	SNP	G	G	A	rs150155910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129045772G>A	ENST00000394422.3	+	6	440	c.412G>A	c.(412-414)Gca>Aca	p.A138T	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_5'Flank|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)			32					CAATAAAACCGCACAAGTCCT	0.498000																								0							SO:0001583	missense			ENST00000394422.3	1	1	hg19	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304624	0.23736	0.0	1.49E-4	ENSG00000156697	ENST00000394422;ENST00000371051	T;T	0.16743	2.32;2.32	5.43	2.94	0.34122	.	0.228441	0.45361	N	0.000376	T	0.07908	0.0198	N	0.05230	-0.09	0.80722	D	1	B;B	0.14012	0.009;0.004	B;B	0.11329	0.006;0.006	T	0.22765	-1.0207	10	0.46703	T	0.11	-1.01	7.5144	0.27592	0.1322:0.0:0.2762:0.5917	.	84;138	F8WD00;Q9BVJ6	.;UT14A_HUMAN	T	138;84	ENSP00000377944:A138T;ENSP00000360090:A84T	ENSP00000360090:A84T	A	+	1	0	UTP14A	128873453	0.735000	0.28153	0.456000	0.27044	0.158000	0.22134	0.575000	0.23729	0.202000	0.20498	-0.825000	0.03093	GCA		TCGA-IB-7651-01A-11D-2154-08	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	0	0	1	185	584	1	196	1	9.999999e-01	61	22	1	196	3		0	0	0	0	0	2	1	1	183	576	1	194	15								-5.708893	1	1	121410	4	39	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UTP14A	10813	broad.mit.edu	37	X	129060260	129060260	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129060260A>G	ENST00000394422.3	+	14	2016	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)			32					AAAGATAAGAATTTGCCAAAT	0.448000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000394422.3	1	1	hg19	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031633	0.35797	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	6.08	1.95	0.26073	.	0.752025	0.14031	N	0.346157	T	0.32164	0.0820	M	0.85630	2.765	0.25957	N	0.982674	B;P;B	0.52170	0.151;0.951;0.052	B;P;B	0.54544	0.059;0.755;0.063	T	0.11518	-1.0584	10	0.36615	T	0.2	-7.9233	5.202	0.15269	0.6379:0.0:0.229:0.1331	.	609;611;663	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	S	611;663;609;495	ENSP00000388669:N611S;ENSP00000377944:N663S;ENSP00000360090:N609S;ENSP00000360081:N495S	ENSP00000360081:N495S	N	+	2	0	UTP14A	128887941	0.904000	0.30761	0.994000	0.49952	0.989000	0.77384	1.502000	0.35704	0.346000	0.23899	0.486000	0.48141	AAT		TCGA-IB-7651-01A-11D-2154-08	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	1	0	1	97	266	0	85	1	1	57	23	0	85	2		0	0	0	0	0	2	1	1	95	257	0	85	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AIFM1	9131	broad.mit.edu	37	X	129263959	129263959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129263959G>A	ENST00000287295.3	-	15	1986	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1			30				Flavin adenine dinucleotide(DB03147)	CTTGCTATTGGCATTCGGTTA	0.507000																								0							SO:0001583	missense			ENST00000287295.3	1	1	hg19	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842653	0.32606	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.82255	1.06;1.05;-1.59;1.06;-0.59	4.94	3.03	0.35002	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	L	0.42487	1.325	0.80722	D	1	B;P;P	0.42941	0.057;0.747;0.794	B;B;B	0.38020	0.026;0.263;0.135	T	0.69602	-0.5101	10	0.27082	T	0.32	-8.0288	10.8515	0.46773	0.0:0.1371:0.7176:0.1453	.	299;582;586	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	S	247;299;582;234;586	ENSP00000431222:P247S;ENSP00000316320:P299S;ENSP00000315122:P582S;ENSP00000405879:P234S;ENSP00000287295:P586S	ENSP00000287295:P586S	P	-	1	0	AIFM1	129091640	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.429000	0.80309	1.028000	0.39785	0.600000	0.82982	CCA		TCGA-IB-7651-01A-11D-2154-08	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2	1	0	1	192	644	0	196	1	1	42	58	0	196	2		0	0	0	0	0	2	1	1	189	631	0	194	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB33A	9363	broad.mit.edu	37	X	129318474	129318474	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129318474G>T	ENST00000257017.4	+	2	888	c.474G>T	c.(472-474)caG>caT	p.Q158H		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family			11					TGAGGGAACAGATCCAGGTGC	0.522000																								0							SO:0001583	missense			ENST00000257017.4	1	1	hg19	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222487	0.58668	.	.	ENSG00000134594	ENST00000257017	T	0.78126	-1.15	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.170222	0.52532	D	0.000071	T	0.77837	0.4190	L	0.39245	1.2	0.45541	D	0.998494	P	0.52170	0.951	P	0.53450	0.726	T	0.80153	-0.1501	10	0.87932	D	0	-11.242	11.1761	0.48601	0.0869:0.0:0.9131:0.0	.	158	Q14088	RB33A_HUMAN	H	158	ENSP00000257017:Q158H	ENSP00000257017:Q158H	Q	+	3	2	RAB33A	129146155	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.430000	0.34914	2.076000	0.62316	0.436000	0.28706	CAG		TCGA-IB-7651-01A-11D-2154-08	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	1	0	1	62	270	0	73	1	7.660048e-01	2	12	0	73	2		0	0	0	0	0	2	1	1	62	265	0	73	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TLR8	51311	broad.mit.edu	37	X	12937820	12937820	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12937820C>A	ENST00000218032.6	+	2	748	c.661C>A	c.(661-663)Cca>Aca	p.P221T	TLR8_ENST00000311912.5_Missense_Mutation_p.P239T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8			50				Imiquimod(DB00724)	ACCCAAACTGCCAAGCTCCCT	0.368000																								0							SO:0001583	missense			ENST00000218032.6	1	1	hg19	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044863	0.36085	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00976	5.48;5.48	4.93	4.93	0.64822	.	0.000000	0.40469	N	0.001086	T	0.05868	0.0153	M	0.84511	2.7	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01238	-1.1409	10	0.87932	D	0	.	11.3276	0.49458	0.0:0.901:0.0:0.099	.	221;239	Q9NR97;D1CS70	TLR8_HUMAN;.	T	221;239	ENSP00000218032:P221T;ENSP00000312082:P239T	ENSP00000218032:P221T	P	+	1	0	TLR8	12847741	1.000000	0.71417	0.503000	0.27626	0.029000	0.11900	3.064000	0.49986	2.048000	0.60808	0.523000	0.50628	CCA		TCGA-IB-7651-01A-11D-2154-08	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	1	0	1	111	443	0	102	0	9.833820e-01	0	28	0	102	2		0	0	0	0	0	2	1	1	108	435	0	102	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBMX2	51634	broad.mit.edu	37	X	129546425	129546425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129546425G>A	ENST00000305536.6	+	6	636	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2			19					TCACCCAGACGCAAGACAGTA	0.488000																								0							SO:0001583	missense			ENST00000305536.6	1	1	hg19	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	5.481	0.273812	0.10403	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.12984	2.63	4.31	1.46	0.22682	.	0.761838	0.13093	N	0.414413	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.33854	-0.9852	10	0.48119	T	0.1	.	2.6917	0.05122	0.2525:0.0:0.5178:0.2297	.	191	Q9Y388	RBMX2_HUMAN	H	191	ENSP00000339090:R191H	ENSP00000339090:R191H	R	+	2	0	RBMX2	129374106	0.006000	0.16342	0.278000	0.24718	0.031000	0.12232	0.308000	0.19314	0.358000	0.24211	0.600000	0.82982	CGC		TCGA-IB-7651-01A-11D-2154-08	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	1	0	1	80	365	0	104	1	9.999983e-01	43	46	0	104	2		0	0	0	0	0	2	1	1	77	353	0	102	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENOX2	10495	broad.mit.edu	37	X	129771328	129771328	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129771328G>T	ENST00000370927.1	-	9	1294	c.1273C>A	c.(1273-1275)Ctc>Atc	p.L425I	ENOX2_ENST00000338144.3_Missense_Mutation_p.L425I|ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I|ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	p.L425I(1)		33					TAGGCATCGAGCTGCCAACGG	0.428000													Ovarian(101;828 1506 2951 9500 35258)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370927.1	1	1	hg19	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622491	0.66787	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.30448	1.53;1.53	5.09	4.19	0.49359	.	0.077113	0.53938	D	0.000052	T	0.38134	0.1029	M	0.73217	2.22	0.47659	D	0.999484	P;P	0.38020	0.615;0.615	B;B	0.43082	0.407;0.407	T	0.20672	-1.0268	9	.	.	.	-9.705	12.2879	0.54803	0.0:0.1667:0.8333:0.0	.	425;453	Q16206;A4QPE1	ENOX2_HUMAN;.	I	396;396;425;396;453;425	ENSP00000337146:L425I;ENSP00000359965:L425I	.	L	-	1	0	ENOX2	129599009	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.113000	0.64640	2.345000	0.79718	0.600000	0.82982	CTC		TCGA-IB-7651-01A-11D-2154-08	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	0	0	1	171	497	1	130	1	9.981486e-01	6	24	1	130	2		0	0	0	0	0	2	1	1	167	488	1	130	18								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENOX2	10495	broad.mit.edu	37	X	129801587	129801587	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129801587A>G	ENST00000370927.1	-	6	932	c.911T>C	c.(910-912)gTg>gCg	p.V304A	ENOX2_ENST00000338144.3_Missense_Mutation_p.V304A|ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A|ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2			33					TTTCTCGTTCACCAGGCGGCG	0.502000													Ovarian(101;828 1506 2951 9500 35258)											0							SO:0001583	missense			ENST00000370927.1	0	1	hg19	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230892	0.39399	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.28666	1.6;1.6	5.17	5.17	0.71159	.	0.352395	0.29868	N	0.010999	T	0.18467	0.0443	N	0.14661	0.345	0.29624	N	0.846001	B;B	0.21753	0.033;0.06	B;B	0.24006	0.034;0.05	T	0.13150	-1.0520	9	.	.	.	-14.955	11.7708	0.51958	1.0:0.0:0.0:0.0	.	304;332	Q16206;A4QPE1	ENOX2_HUMAN;.	A	275;275;304;275;332;304;275	ENSP00000337146:V304A;ENSP00000359965:V304A	.	V	-	2	0	ENOX2	129629268	0.999000	0.42202	0.973000	0.42090	0.931000	0.56810	4.650000	0.61440	1.908000	0.55244	0.481000	0.45027	GTG		TCGA-IB-7651-01A-11D-2154-08	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	0	0	0	18	1176	1	278	0	1.133793e-01	1	35	1	278	2		0	0	0	0	0	2	0	3.595905e-01	17	1164	1	275	21								-10.521590	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.170000	0.100000	0.270000	0.180000	0.186118	0.170000	0	1.300000e-01	2.300000e-01
IGSF1	3547	broad.mit.edu	37	X	130409168	130409168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130409168C>A	ENST00000361420.3	-	17	3356	c.3277G>T	c.(3277-3279)Gac>Tac	p.D1093Y	IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000370904.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1			78					AATGTTGAGTCTGGCAGTTCC	0.557000																								0							SO:0001583	missense			ENST00000361420.3	1	1	hg19	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.838615	0.00573	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02812	4.15;4.15;4.15;4.15	4.83	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616837	0.16303	N	0.220364	T	0.03695	0.0105	N	0.05467	-0.045	0.31995	N	0.604081	D;D;D	0.89917	0.998;0.993;1.0	D;D;D	0.87578	0.984;0.924;0.998	T	0.10382	-1.0632	10	0.02654	T	1	.	8.2379	0.31638	0.0:0.8894:0.0:0.1106	.	1084;537;1093	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Y	1084;1093;1084;1098	ENSP00000359947:D1084Y;ENSP00000355010:D1093Y;ENSP00000359941:D1084Y;ENSP00000359940:D1098Y	ENSP00000355010:D1093Y	D	-	1	0	IGSF1	130236849	1.000000	0.71417	0.994000	0.49952	0.029000	0.11900	1.162000	0.31786	1.152000	0.42452	-0.215000	0.12644	GAC		TCGA-IB-7651-01A-11D-2154-08	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	1	0	1	263	821	0	255	0	0	0	1	0	255	2		0	0	0	0	0	2	1	1	260	813	0	254	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF1	3547	broad.mit.edu	37	X	130412536	130412536	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130412536A>C	ENST00000361420.3	-	12	2019	c.1940T>G	c.(1939-1941)cTt>cGt	p.L647R	IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R|IGSF1_ENST00000370904.1_Missense_Mutation_p.L638R|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1			78					CAGGGCGCCAAGGGGGAAGGC	0.632000																								0							SO:0001583	missense			ENST00000361420.3	1	1	hg19	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	a	17.30	3.354157	0.61293	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01092	5.35;5.35;5.35;5.35	5.09	5.09	0.68999	Immunoglobulin-like fold (1);	0.000000	0.34853	N	0.003622	T	0.06050	0.0157	M	0.78285	2.405	0.32560	N	0.531231	P;D;D	0.71674	0.672;0.998;0.97	P;D;P	0.74023	0.758;0.982;0.857	T	0.01993	-1.1233	10	0.87932	D	0	.	10.4656	0.44604	1.0:0.0:0.0:0.0	.	638;91;647	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	638;647;638;652	ENSP00000359947:L638R;ENSP00000355010:L647R;ENSP00000359941:L638R;ENSP00000359940:L652R	ENSP00000355010:L647R	L	-	2	0	IGSF1	130240217	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	4.481000	0.60250	1.810000	0.52873	0.483000	0.47432	CTT		TCGA-IB-7651-01A-11D-2154-08	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	1	0	1	135	390	0	109	0	0	0	1	0	109	2		0	0	0	0	0	2	1	1	134	379	0	109	2								-6.142052	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGSF1	3547	broad.mit.edu	37	X	130415855	130415855	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130415855A>G	ENST00000361420.3	-	8	1389	c.1310T>C	c.(1309-1311)aTc>aCc	p.I437T	IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T|IGSF1_ENST00000370904.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1			78					CTGAAGGGTGATGGCCTTTCC	0.473000																								0							SO:0001583	missense			ENST00000361420.3	1	1	hg19	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318945	0.41096	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00776	5.71;5.71;5.71;5.71	4.21	3.04	0.35103	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.531595	0.17345	N	0.177610	T	0.01695	0.0054	L	0.28556	0.865	0.23144	N	0.998223	D;D	0.60160	0.981;0.987	D;D	0.72982	0.92;0.979	T	0.51756	-0.8665	10	0.87932	D	0	.	5.4452	0.16531	0.8738:0.0:0.1262:0.0	.	428;437	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	T	428;437;428;437	ENSP00000359947:I428T;ENSP00000355010:I437T;ENSP00000359941:I428T;ENSP00000359940:I437T	ENSP00000355010:I437T	I	-	2	0	IGSF1	130243536	0.999000	0.42202	0.605000	0.28930	0.663000	0.39108	2.733000	0.47360	0.761000	0.33130	0.481000	0.45027	ATC		TCGA-IB-7651-01A-11D-2154-08	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	0	0	1	61	219	0	64	0	1.247719e-01	0	3	0	64	2		0	0	0	0	0	2	1	1	61	219	0	64	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FRMD7	90167	broad.mit.edu	37	X	131228097	131228097	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131228097C>T	ENST00000298542.4	-	5	530	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	FRMD7_ENST00000370879.1_5'UTR|FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7			24	Acute lymphoblastic leukemia(192;0.000127)				ACCATCAACGCTGTACAGTTG	0.443000																								0							SO:0001583	missense			ENST00000298542.4	1	1	hg19	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077177	0.94000	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.78246	-1.16;-1.16	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89541	0.3792	10	0.66056	D	0.02	.	16.8125	0.85724	0.0:1.0:0.0:0.0	.	104;119	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	119;104	ENSP00000298542:A119T;ENSP00000417996:A104T	ENSP00000298542:A119T	A	-	1	0	FRMD7	131055778	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	5.685000	0.68204	2.262000	0.75019	0.529000	0.55759	GCG		TCGA-IB-7651-01A-11D-2154-08	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	1	0	1	118	506	0	183		0	0	0	0	183	2		0	0	0	0	0	2	1	1	117	501	1	183	13								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAP2C	57826	broad.mit.edu	37	X	131348212	131348212	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131348212G>T	ENST00000342983.2	-	3	1282	c.536C>A	c.(535-537)aCt>aAt	p.T179N	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family			8	Acute lymphoblastic leukemia(192;0.000127)				GACGACACAAGTTGTACAACA	0.403000																								0							SO:0001583	missense			ENST00000342983.2	1	1	hg19	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465942	0.63625	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.66638	-0.22;-0.22	5.75	5.75	0.90469	.	0.153294	0.64402	D	0.000016	T	0.52354	0.1729	N	0.12746	0.255	0.51767	D	0.999935	B	0.19583	0.037	B	0.12156	0.007	T	0.46289	-0.9202	10	0.41790	T	0.15	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	179	Q9Y3L5	RAP2C_HUMAN	N	179	ENSP00000340274:T179N;ENSP00000359911:T179N	ENSP00000340274:T179N	T	-	2	0	RAP2C	131175893	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.424000	0.97464	2.423000	0.82170	0.550000	0.68814	ACT		TCGA-IB-7651-01A-11D-2154-08	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	1	0	1	55	233	0	72	1	9.999988e-01	36	53	0	72	2		0	0	0	0	0	2	1	1	53	231	0	70	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPC4	2239	broad.mit.edu	37	X	132445370	132445370	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132445370G>A	ENST00000370828.3	-	4	1317	c.793C>T	c.(793-795)Cca>Tca	p.P265S	GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4			28	Acute lymphoblastic leukemia(192;0.000127)				TTGTAACATGGCTTCACAGTC	0.468000																								0							SO:0001583	missense			ENST00000370828.3	1	1	hg19	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554225	0.86231	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.61040	0.14;0.14	5.61	5.61	0.85477	Glypican, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.89095	3.005	0.80722	D	1	D	0.62365	0.991	D	0.63283	0.913	D	0.83379	0.0011	10	0.72032	D	0.01	-6.6642	17.5641	0.87914	0.0:0.0:1.0:0.0	.	265	O75487	GPC4_HUMAN	S	265;259;195	ENSP00000359864:P265S;ENSP00000444959:P195S	ENSP00000359864:P265S	P	-	1	0	GPC4	132273036	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.629000	0.74267	2.363000	0.80096	0.600000	0.82982	CCA		TCGA-IB-7651-01A-11D-2154-08	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	1	0	1	152	537	0	186	1	1	36	100	0	186	2		0	0	0	0	0	2	1	1	150	530	0	184	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPC3	2719	broad.mit.edu	37	X	132833993	132833993	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132833993G>T	ENST00000370818.3	-	4	1541	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	GPC3_ENST00000394299.2_Missense_Mutation_p.L389I|GPC3_ENST00000543339.1_Missense_Mutation_p.L312I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3			36	Acute lymphoblastic leukemia(192;0.000127)				TCAATAAAGAGATCTTCAGGA	0.333000			T, D, Mis, N, F, S			Wilms tumour			Simpson-Golabi-Behmel syndrome					yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0							SO:0001583	missense	Familial Cancer Database	SGBS	ENST00000370818.3	1	1	hg19	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205259	0.22205	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.50001	0.76;0.76;0.76	5.3	3.51	0.40186	.	0.363857	0.25408	N	0.030900	T	0.32164	0.0820	L	0.36672	1.1	0.27451	N	0.95343	B;P;B;B	0.39862	0.434;0.692;0.409;0.156	B;B;B;B	0.36030	0.216;0.164;0.216;0.216	T	0.10894	-1.0610	10	0.21540	T	0.41	.	8.4759	0.33012	0.2516:0.0:0.7484:0.0	.	350;312;389;366	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	I	366;389;312	ENSP00000359854:L366I;ENSP00000377836:L389I;ENSP00000444222:L312I	ENSP00000359854:L366I	L	-	1	0	GPC3	132661659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.998000	0.49465	1.008000	0.39264	0.436000	0.28706	CTC		TCGA-IB-7651-01A-11D-2154-08	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	1	0	1	75	282	0	101	0	9.889405e-01	0	29	0	101	2		0	0	0	0	0	2	1	1	74	281	0	101	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLAC1	10761	broad.mit.edu	37	X	133700087	133700087	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:133700087A>C	ENST00000359237.4	-	3	911	c.626T>G	c.(625-627)aTt>aGt	p.I209S	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1			6	Acute lymphoblastic leukemia(192;0.000127)				CATGGACCCAATCATATCATC	0.448000																								0							SO:0001583	missense			ENST00000359237.4	1	1	hg19	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482255	0.26598	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.4	-1.11	0.09840	.	.	.	.	.	T	0.25457	0.0619	N	0.24115	0.695	0.09310	N	1	B	0.24368	0.102	B	0.19391	0.025	T	0.21724	-1.0237	8	0.87932	D	0	-2.3614	6.1346	0.20225	0.3498:0.5428:0.1074:0.0	.	209	Q9HBJ0	PLAC1_HUMAN	S	209	.	ENSP00000352173:I209S	I	-	2	0	PLAC1	133527753	0.012000	0.17670	0.000000	0.03702	0.133000	0.20885	0.768000	0.26590	-0.286000	0.09076	0.486000	0.48141	ATT		TCGA-IB-7651-01A-11D-2154-08	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	0	0	0	10	371	0	99	0	1.057596e-01	1	18	0	99	2		0	0	0	0	0	2	1	9.965823e-01	9	363	0	98	2								-10.097360	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.310000	0.160000	0.530000	0.300000	0.333558	0.310000	0	2.300000e-01	4.300000e-01
CXorf48	0	broad.mit.edu	37	X	134305013	134305013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134305013C>T	ENST00000276241.6	-	1	309	c.83G>A	c.(82-84)gGc>gAc	p.G28D	CXorf48_ENST00000344129.2_Missense_Mutation_p.G28D	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN				5	Acute lymphoblastic leukemia(192;0.000127)				TTGTGGGAGGCCCTGCTGCTG	0.612000																								0							SO:0001583	missense			ENST00000276241.6	1	1	hg19	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.224414	0.01530	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.32023	1.47;1.47	2.25	-4.51	0.03483	.	.	.	.	.	T	0.20129	0.0484	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24119	-1.0169	9	0.20046	T	0.44	0.5962	10.7492	0.46198	0.0:0.1935:0.0:0.8065	.	28	Q8WUE5	CX048_HUMAN	D	28	ENSP00000276241:G28D;ENSP00000343893:G28D	ENSP00000276241:G28D	G	-	2	0	CXorf48	134132679	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.702000	0.05069	-2.067000	0.00885	-1.004000	0.02495	GGC		TCGA-IB-7651-01A-11D-2154-08	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1	1	0	1	87	313	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1	86	310	0	91	2								-4.062408	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX26B	203522	broad.mit.edu	37	X	134711279	134711279	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134711279C>T	ENST00000370752.4	+	14	2269	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	p.G645G(2)		9	Acute lymphoblastic leukemia(192;6.56e-05)				ACCATGTGGGCGGAAAGGGAC	0.488000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000370752.4	1	1	hg19	CCDS35401.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	1	0	0	65	622	0	176	1	2.836621e-01	3	8	0	176	2		0	0	0	0	0	2	1	1	66	612	0	174	2								-3.221883	1	1	121410	2	33	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.870000	1.000000	1.000000	0.988195	0.990000	1	9.800000e-01	1
SLC9A6	10479	broad.mit.edu	37	X	135067752	135067752	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135067752C>A	ENST00000370698.3	+	1	126	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.L31I|SLC9A6_ENST00000370701.1_Intron	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6			33	Acute lymphoblastic leukemia(192;0.000127)				CCTTTGGTTGCTCCTCGCAGT	0.716000																								0							SO:0001583	missense			ENST00000370698.3	1	1	hg19	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	c	15.28	2.786621	0.49997	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.58060	0.39;0.36	4.18	3.29	0.37713	.	0.425334	0.22521	N	0.058974	T	0.35128	0.0921	L	0.27053	0.805	0.31981	N	0.60592	B;B	0.22683	0.073;0.039	B;B	0.18561	0.022;0.014	T	0.38308	-0.9667	10	0.41790	T	0.15	.	7.4117	0.27021	0.0:0.7844:0.0:0.2156	.	31;31	Q92581-2;Q92581	.;SL9A6_HUMAN	I	31	ENSP00000359732:L31I;ENSP00000359729:L31I	ENSP00000359729:L31I	L	+	1	0	SLC9A6	134895418	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	2.741000	0.47426	1.913000	0.55393	0.373000	0.22412	CTC		TCGA-IB-7651-01A-11D-2154-08	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	1	0	0	71	221	0	51	1	8.263752e-01	8	4	0	51	2		0	0	0	0	0	2	1	1	71	216	0	48	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC9A6	10479	broad.mit.edu	37	X	135095513	135095513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135095513G>A	ENST00000370698.3	+	9	1092	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.V385I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6			33	Acute lymphoblastic leukemia(192;0.000127)				TATAGGTGTAGTTGCAGTATT	0.363000																								0							SO:0001583	missense			ENST00000370698.3	1	1	hg19	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911918	0.92178	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15139	2.45;2.45;2.45	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.70787	2.145	0.80722	D	1	P;D	0.71674	0.815;0.998	P;D	0.70935	0.551;0.971	T	0.33085	-0.9882	10	0.87932	D	0	.	17.7295	0.88373	0.0:0.0:1.0:0.0	.	385;353	Q92581-2;Q92581	.;SL9A6_HUMAN	I	333;353;385	ENSP00000359735:V333I;ENSP00000359732:V353I;ENSP00000359729:V385I	ENSP00000359729:V385I	V	+	1	0	SLC9A6	134923179	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.423000	0.97461	2.405000	0.81733	0.513000	0.50165	GTT		TCGA-IB-7651-01A-11D-2154-08	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	1	0	1	111	393	0	103	1	9.998516e-01	19	29	0	103	2		0	0	0	0	0	2	1	1	108	391	0	103	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP7D3	79649	broad.mit.edu	37	X	135314112	135314112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135314112G>A	ENST00000316077.9	-	8	1224	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	MAP7D3_ENST00000370663.5_Missense_Mutation_p.T317M|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.T300M	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3			44	Acute lymphoblastic leukemia(192;0.000127)				GAATGAGTCCGTGCTCACCTC	0.572000																								0							SO:0001583	missense			ENST00000316077.9	1	0	hg19	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	8.091	0.774550	0.16051	5.28E-4	0.0	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	4.19	-8.38	0.00973	.	.	.	.	.	T	0.01489	0.0048	N	0.01168	-0.975	0.09310	N	1	P;B;B;B	0.36282	0.546;0.181;0.234;0.17	B;B;B;B	0.20184	0.027;0.007;0.018;0.028	T	0.47032	-0.9148	9	0.40728	T	0.16	0.0624	1.9415	0.03348	0.3301:0.2269:0.3298:0.1132	.	317;294;335;300	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	M	300;335;317;294	ENSP00000359695:T300M;ENSP00000318086:T335M;ENSP00000359697:T317M;ENSP00000359694:T294M	ENSP00000318086:T335M	T	-	2	0	MAP7D3	135141778	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.966000	0.03825	-2.262000	0.00690	-1.498000	0.00962	ACG		TCGA-IB-7651-01A-11D-2154-08	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2	1	0	1	174	591	0	202	1	9.961899e-01	11	20	0	202	2		0	0	0	0	0	2	1	1	173	583	0	201	2								-2.979226	1	1	121256	59	54	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP7D3	79649	broad.mit.edu	37	X	135328253	135328253	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135328253C>T	ENST00000316077.9	-	3	444	c.224G>A	c.(223-225)cGc>cAc	p.R75H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R75H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	p.R372H(1)		44	Acute lymphoblastic leukemia(192;0.000127)				CTCCTCTCTGCGCTCTCTTGC	0.274000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000316077.9	1	1	hg19	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986959	0.53934	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.57	5.57	0.84162	.	0.000000	0.32802	N	0.005639	T	0.34978	0.0916	M	0.70275	2.135	0.42323	D	0.992268	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	T	0.05566	-1.0877	10	0.72032	D	0.01	-17.3619	18.3794	0.90445	0.0:1.0:0.0:0.0	.	57;75;75;75	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	75;75;57;75	ENSP00000359695:R75H;ENSP00000318086:R75H;ENSP00000359697:R57H;ENSP00000359694:R75H	ENSP00000318086:R75H	R	-	2	0	MAP7D3	135155919	0.997000	0.39634	0.031000	0.17742	0.002000	0.02628	4.724000	0.61972	2.466000	0.83321	0.594000	0.82650	CGC		TCGA-IB-7651-01A-11D-2154-08	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2	1	0	1	80	363	0	84	1	9.986538e-01	13	34	0	84	2		0	0	0	0	0	2	1	1	78	355	0	84	2								-20.000000	1	1	120794	5	38	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR112	139378	broad.mit.edu	37	X	135429074	135429074	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429074C>T	ENST00000394143.1	+	6	3500	c.3209C>T	c.(3208-3210)aCt>aTt	p.T1070I	GPR112_ENST00000412101.1_Missense_Mutation_p.T865I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	p.T1070N(1)		199	Acute lymphoblastic leukemia(192;0.000127)				TTGGATCAGACTGCTTCCACA	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000394143.1	1	1	hg19	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.313932	0.40996	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39056	1.14;1.14;1.1;1.21;1.1	1.87	0.972	0.19704	.	.	.	.	.	T	0.47414	0.1444	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.991;0.991;0.981	T	0.27739	-1.0065	9	0.87932	D	0	.	5.7438	0.18108	0.0:0.6663:0.3337:0.0	.	1007;865;1070	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	1070;1070;865;1007;865	ENSP00000377699:T1070I;ENSP00000359686:T1070I;ENSP00000416526:T865I;ENSP00000287534:T1007I;ENSP00000377697:T865I	ENSP00000287534:T1007I	T	+	2	0	GPR112	135256740	0.026000	0.19158	0.001000	0.08648	0.426000	0.31534	0.101000	0.15251	0.241000	0.21283	0.436000	0.28706	ACT		TCGA-IB-7651-01A-11D-2154-08	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	1	0	1	300	1068	0	328		0	0	0	0	328	2		0	0	0	0	0	2	1	1	295	1048	0	327	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR112	139378	broad.mit.edu	37	X	135429170	135429170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429170C>T	ENST00000394143.1	+	6	3596	c.3305C>T	c.(3304-3306)gCa>gTa	p.A1102V	GPR112_ENST00000412101.1_Missense_Mutation_p.A897V|GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112			199	Acute lymphoblastic leukemia(192;0.000127)				ACATCCATGGCAGTTCCTTCT	0.478000																								0							SO:0001583	missense			ENST00000394143.1	1	1	hg19	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009460	0.19277	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41400	1.03;1.03;1.0;1.1;1.0	2.82	-1.72	0.08107	.	.	.	.	.	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	P;B;B	0.36909	0.573;0.035;0.02	B;B;B	0.33521	0.165;0.01;0.004	T	0.15065	-1.0450	9	0.19590	T	0.45	.	2.4094	0.04420	0.409:0.3085:0.0:0.2825	.	1039;897;1102	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	1102;1102;897;1039;897	ENSP00000377699:A1102V;ENSP00000359686:A1102V;ENSP00000416526:A897V;ENSP00000287534:A1039V;ENSP00000377697:A897V	ENSP00000287534:A1039V	A	+	2	0	GPR112	135256836	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.277000	0.18734	-0.434000	0.07275	-0.413000	0.06143	GCA		TCGA-IB-7651-01A-11D-2154-08	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	1	0	1	165	601	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1	165	587	0	176	2								-4.179864	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR112	139378	broad.mit.edu	37	X	135430783	135430783	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430783A>C	ENST00000394143.1	+	6	5209	c.4918A>C	c.(4918-4920)Atc>Ctc	p.I1640L	GPR112_ENST00000412101.1_Missense_Mutation_p.I1435L|GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000394141.1_Missense_Mutation_p.I1435L|GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112			199	Acute lymphoblastic leukemia(192;0.000127)				ACCTTCCAGGATCACACCTAC	0.448000																								0							SO:0001583	missense			ENST00000394143.1	1	1	hg19	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	13.03	2.115233	0.37339	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.68;1.55	3.41	2.16	0.27623	.	.	.	.	.	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	1	P;B;B	0.51449	0.945;0.392;0.272	P;B;B	0.46237	0.508;0.062;0.028	T	0.08806	-1.0704	9	0.13108	T	0.6	.	5.3713	0.16140	0.7349:0.0:0.0:0.2651	.	1577;1435;1640	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1640;1640;1435;1577;1435	ENSP00000377699:I1640L;ENSP00000359686:I1640L;ENSP00000416526:I1435L;ENSP00000287534:I1577L;ENSP00000377697:I1435L	ENSP00000287534:I1577L	I	+	1	0	GPR112	135258449	0.646000	0.27295	0.001000	0.08648	0.191000	0.23601	2.703000	0.47110	0.192000	0.20272	0.352000	0.21897	ATC		TCGA-IB-7651-01A-11D-2154-08	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	0	0	0	25	818	0	214		0	0	0	0	214	2		0	0	0	0	0	2	1	9.999998e-01	25	803	0	211	2								-19.739500	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.340000	0.230000	0.500000	0.340000	0.359884	0.340000	0	2.800000e-01	4.300000e-01
HTATSF1	27336	broad.mit.edu	37	X	135581769	135581769	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581769T>G	ENST00000218364.4	+	2	373	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	HTATSF1_ENST00000535601.1_Missense_Mutation_p.F67V	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1			30	Acute lymphoblastic leukemia(192;0.000127)				TACTGAAGATTTCATTGCTAC	0.388000																								0							SO:0001583	missense			ENST00000218364.4	1	1	hg19	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575253	0.86645	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.26223	1.75;1.75	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.61307	-0.7089	10	0.72032	D	0.01	-10.3323	14.8256	0.70110	0.0:0.0:0.0:1.0	.	67	O43719	HTSF1_HUMAN	V	67	ENSP00000442699:F67V;ENSP00000218364:F67V	ENSP00000218364:F67V	F	+	1	0	HTATSF1	135409435	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.337000	0.65941	1.882000	0.54519	0.481000	0.45027	TTC		TCGA-IB-7651-01A-11D-2154-08	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	1	0	1	127	491	0	182	1	1	77	66	0	182	2		0	0	0	0	0	2	1	1	126	480	0	179	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTATSF1	27336	broad.mit.edu	37	X	135581775	135581775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581775G>A	ENST00000218364.4	+	2	379	c.205G>A	c.(205-207)Gct>Act	p.A69T	HTATSF1_ENST00000535601.1_Missense_Mutation_p.A69T	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1			30	Acute lymphoblastic leukemia(192;0.000127)				AGATTTCATTGCTACATATCA	0.393000																								0							SO:0001583	missense			ENST00000218364.4	1	1	hg19	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296110	0.95574	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.27557	1.66;1.66	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66400	-0.5933	10	0.66056	D	0.02	-18.9917	18.6736	0.91521	0.0:0.0:1.0:0.0	.	69	O43719	HTSF1_HUMAN	T	69	ENSP00000442699:A69T;ENSP00000218364:A69T	ENSP00000218364:A69T	A	+	1	0	HTATSF1	135409441	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.550000	0.90675	2.353000	0.79882	0.594000	0.82650	GCT		TCGA-IB-7651-01A-11D-2154-08	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	1	0	1	123	500	0	192	1	1	75	67	0	192	2		0	0	0	0	0	2	1	1	122	490	0	189	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HTATSF1	27336	broad.mit.edu	37	X	135593823	135593823	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135593823A>G	ENST00000218364.4	+	9	2093	c.1919A>G	c.(1918-1920)gAt>gGt	p.D640G	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D640G	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1			30	Acute lymphoblastic leukemia(192;0.000127)				GTATTTGATGATGAGTCTGAT	0.393000																								0							SO:0001583	missense			ENST00000218364.4	1	1	hg19	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665511	0.29604	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04234	3.67;3.67	4.23	3.08	0.35506	.	0.664421	0.13400	N	0.390668	T	0.03783	0.0107	N	0.19112	0.55	0.27948	N	0.937253	B	0.19200	0.034	B	0.15052	0.012	T	0.32455	-0.9906	10	0.87932	D	0	-7.1752	7.1947	0.25845	0.8905:0.0:0.1095:0.0	.	640	O43719	HTSF1_HUMAN	G	640	ENSP00000442699:D640G;ENSP00000218364:D640G	ENSP00000218364:D640G	D	+	2	0	HTATSF1	135421489	0.949000	0.32298	0.893000	0.35052	0.617000	0.37484	2.624000	0.46444	0.779000	0.33543	0.425000	0.28330	GAT		TCGA-IB-7651-01A-11D-2154-08	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	1	0	1	146	482	0	168	1	1	173	114	0	168	2		0	0	0	0	0	2	1	1	142	472	0	167	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VGLL1	51442	broad.mit.edu	37	X	135632947	135632947	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135632947C>T	ENST00000370634.3	+	4	825	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	VGLL1_ENST00000470358.1_3'UTR|MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1			20	Acute lymphoblastic leukemia(192;0.000127)				ATATGTATCTCGTGGATCTGC	0.428000																								0							SO:0001583	missense			ENST00000370634.3	1	1	hg19	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937268|1.937268	0.34189|0.34189	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634;ENST00000430688;ENST00000456412|ENST00000440515	T;T|T	0.60424|0.50277	0.74;0.19|0.75	5.15|5.15	-2.25|-2.25	0.06888|0.06888	.|.	1.249760|.	0.05308|.	N|.	0.524240|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.22983|.	0.078|.	B|.	0.11329|.	0.006|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|7	0.72032|0.02654	D|T	0.01|1	-0.0024|-0.0024	5.8179|5.8179	0.18506|0.18506	0.0:0.2538:0.4018:0.3444|0.0:0.2538:0.4018:0.3444	.|.	219|.	Q99990|.	VGLL1_HUMAN|.	C|L	219;76;21|136	ENSP00000359668:R219C;ENSP00000388868:R21C|ENSP00000398360:S136L	ENSP00000359668:R219C|ENSP00000398360:S136L	R|S	+|+	1|2	0|0	VGLL1|VGLL1	135460613|135460613	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.068000|-0.068000	0.11561|0.11561	-0.852000|-0.852000	0.04141|0.04141	0.600000|0.600000	0.82982|0.82982	CGT|TCG		TCGA-IB-7651-01A-11D-2154-08	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	1	0	1	36	267	0	82	0	1.506482e-02	1	1	0	82	2		0	0	0	0	0	2	1	1	35	265	0	82	2								-2.841722	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.998614	0.990000	1	9.900000e-01	1
ARHGEF6	9459	broad.mit.edu	37	X	135862894	135862894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135862894G>A	ENST00000250617.6	-	1	1353	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6			38	Acute lymphoblastic leukemia(192;0.000127)				ACAGAGCCAGGCATGAGTCTG	0.428000																								0							SO:0001583	missense			ENST00000250617.6	1	1	hg19	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039400	0.75617	.	.	ENSG00000129675	ENST00000250617	D	0.97352	-4.35	5.91	5.91	0.95273	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.90082	3.085	0.80722	D	1	P	0.45569	0.861	P	0.54856	0.762	D	0.98971	1.0801	10	0.62326	D	0.03	.	19.2692	0.94002	0.0:0.0:1.0:0.0	.	50	Q15052	ARHG6_HUMAN	S	50	ENSP00000250617:P50S	ENSP00000250617:P50S	P	-	1	0	ARHGEF6	135690560	1.000000	0.71417	0.986000	0.45419	0.708000	0.40852	7.652000	0.83633	2.502000	0.84385	0.436000	0.28706	CCT		TCGA-IB-7651-01A-11D-2154-08	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	1	0	1	210	712	0	222	0	9.953844e-01	0	30	0	222	2		0	0	0	0	0	2	1	1	210	697	0	222	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGFL6	25975	broad.mit.edu	37	X	13618094	13618094	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13618094A>G	ENST00000361306.1	+	4	538	c.281A>G	c.(280-282)gAt>gGt	p.D94G	EGFL6_ENST00000380602.3_Splice_Site_p.D94G	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6			23					GTCCCTGCAGATGTGAATGAG	0.478000																								0							SO:0001630	splice_region_variant			ENST00000361306.1	1	0	hg19	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949921	0.53186	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.99060	-5.38;-5.38	5.09	5.09	0.68999	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99253	1.0888	9	.	.	.	.	13.7231	0.62740	1.0:0.0:0.0:0.0	.	94;94	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	G	94	ENSP00000355126:D94G;ENSP00000369976:D94G	.	D	+	2	0	EGFL6	13528015	1.000000	0.71417	0.947000	0.38551	0.007000	0.05969	8.945000	0.92985	1.695000	0.51148	0.486000	0.48141	GAT		TCGA-IB-7651-01A-11D-2154-08	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	1	0	1	63	256	0	81	0	9.460042e-01	0	22	0	81	2		0	0	0	0	0	2	1	1	62	252	0	80	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EGFL6	25975	broad.mit.edu	37	X	13645136	13645136	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13645136G>T	ENST00000361306.1	+	11	1549	c.1292G>T	c.(1291-1293)gGc>gTc	p.G431V	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6			23					AAAGCTATTGGCTTCTATATG	0.388000																								0							SO:0001583	missense			ENST00000361306.1	1	1	hg19	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636831	0.67130	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.32272	1.46;1.46	5.0	5.0	0.66597	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76900	-0.2788	10	0.87932	D	0	.	17.4988	0.87726	0.0:0.0:1.0:0.0	.	432;431	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	V	431;432	ENSP00000355126:G431V;ENSP00000369976:G432V	ENSP00000355126:G431V	G	+	2	0	EGFL6	13555057	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.750000	0.74888	2.059000	0.61396	0.600000	0.82982	GGC		TCGA-IB-7651-01A-11D-2154-08	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	1	0	1	107	452	0	131	0	9.848972e-01	0	30	0	131	2		0	0	0	0	0	2	1	1	106	442	0	130	2								-3.486415	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB9A	9367	broad.mit.edu	37	X	13727055	13727055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727055G>A	ENST00000464506.1	+	3	469	c.190G>A	c.(190-192)Gca>Aca	p.A64T	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family			7					TTGGGACACGGCAGGTCAGGA	0.428000																								0							SO:0001583	missense			ENST00000464506.1	1	0	hg19	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105151	0.77096	.	.	ENSG00000123595	ENST00000464506	D	0.88741	-2.42	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96820	0.9603	9	.	.	.	-0.246	18.4388	0.90656	0.0:0.0:1.0:0.0	.	64	P51151	RAB9A_HUMAN	T	64	ENSP00000420127:A64T	.	A	+	1	0	RAB9A	13636976	1.000000	0.71417	0.052000	0.19188	0.570000	0.35934	9.606000	0.98325	2.296000	0.77279	0.594000	0.82650	GCA		TCGA-IB-7651-01A-11D-2154-08	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	0	0	1	245	768	2	264	1	1	72	91	2	264	6		0	0	0	0	0	2	1	1	240	742	2	262	19								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RAB9A	9367	broad.mit.edu	37	X	13727191	13727191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727191C>T	ENST00000464506.1	+	3	605	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family			7					ATATATTATGCAGATGTGAAA	0.418000																								0							SO:0001583	missense			ENST00000464506.1	1	1	hg19	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425573	0.83667	.	.	ENSG00000123595	ENST00000464506	T	0.77358	-1.09	5.42	4.52	0.55395	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.83103	-0.0127	9	.	.	.	-3.5585	14.6906	0.69083	0.1455:0.8545:0.0:0.0	.	109	P51151	RAB9A_HUMAN	V	109	ENSP00000420127:A109V	.	A	+	2	0	RAB9A	13637112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.257000	0.74773	0.594000	0.82650	GCA		TCGA-IB-7651-01A-11D-2154-08	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	1	0	1	150	599	0	162	1	1	72	84	0	162	2		0	0	0	0	0	2	1	1	148	592	0	162	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OFD1	8481	broad.mit.edu	37	X	13767603	13767603	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13767603C>T	ENST00000340096.6	+	9	1213	c.886C>T	c.(886-888)Cta>Tta	p.L296L	OFD1_ENST00000380567.1_Silent_p.L156L|OFD1_ENST00000398395.3_Silent_p.L296L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Silent_p.L296L	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1			25					TATGGATTTGCTAAGAGGAAG	0.303000																								0							SO:0001819	synonymous_variant			ENST00000340096.6	1	1	hg19	CCDS14157.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	1	0	1	56	186	0	74	1	9.993691e-01	22	18	0	74	2		0	0	0	0	0	2	1	1	54	184	0	75	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDR1	1038	broad.mit.edu	37	X	139866020	139866020	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:139866020A>C	ENST00000370532.2	-	1	703	c.512T>G	c.(511-513)tTt>tGt	p.F171C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa			25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)			TCTTCCAGAAAATCCACGTCT	0.428000																								0							SO:0001583	missense			ENST00000370532.2	0	1	hg19	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543151	0.45280	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.07	-0.12	0.13539	.	.	.	.	.	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.61874	0.895	T	0.13124	-1.0521	7	.	.	.	.	3.87	0.09033	0.6586:0.0:0.1693:0.1721	.	171	P51861	CDR1_HUMAN	C	171	.	.	F	-	2	0	CDR1	139693686	0.018000	0.18449	0.004000	0.12327	0.269000	0.26545	1.299000	0.33424	0.100000	0.17581	0.242000	0.17961	TTT		TCGA-IB-7651-01A-11D-2154-08	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	0	0	0	19	1283	0	283	0	2.468091e-04	0	2	0	283	2		0	0	0	0	0	2	1	9.999866e-01	18	1243	0	283	2								-3.142808	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.170000	0.100000	0.260000	0.170000	0.179748	0.170000	0	1.300000e-01	2.200000e-01
LDOC1	23641	broad.mit.edu	37	X	140270770	140270770	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140270770T>C	ENST00000370526.2	-	1	540	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	RP3-507I15.2_ENST00000566241.1_RNA|LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1			14	Acute lymphoblastic leukemia(192;7.65e-05)				GAGGGCCTAATAATCATCCTC	0.647000																								0							SO:0001583	missense			ENST00000370526.2	1	1	hg19	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	2.122	-0.401183	0.04865	.	.	ENSG00000182195	ENST00000370526	T	0.22945	1.93	3.67	2.47	0.30058	.	0.481200	0.15306	U	0.269334	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	B	0.37601	0.254	T	0.13764	-1.0497	10	0.87932	D	0	.	5.4737	0.16684	0.251:0.0:0.0:0.749	.	146	O95751	LDOC1_HUMAN	C	146	ENSP00000359557:Y146C	ENSP00000359557:Y146C	Y	-	2	0	LDOC1	140098436	0.982000	0.34865	0.308000	0.25141	0.003000	0.03518	0.671000	0.25172	0.573000	0.29400	0.237000	0.17872	TAT		TCGA-IB-7651-01A-11D-2154-08	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	1	0	0	26	114	0	26	0	5.279219e-01	0	9	0	26	2		0	0	0	0	0	2	1	1	26	111	0	25	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
GEMIN8	54960	broad.mit.edu	37	X	14038477	14038477	+	Missense_Mutation	SNP	G	G	T	rs137990246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14038477G>T	ENST00000380523.4	-	4	510	c.192C>A	c.(190-192)agC>agA	p.S64R	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8			9					TATCGTAAGAGCTTTGGGGAA	0.498000																								0							SO:0001583	missense			ENST00000380523.4	1	1	hg19	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	g	8.948	0.967554	0.18659	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.46819	0.86;0.86;0.86	5.15	3.35	0.38373	.	0.471114	0.25978	N	0.027094	T	0.31167	0.0788	L	0.38175	1.15	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.13229	-1.0517	10	0.33940	T	0.23	.	3.0956	0.06308	0.1643:0.1332:0.5638:0.1387	.	64	Q9NWZ8	GEMI8_HUMAN	R	64	ENSP00000369895:S64R;ENSP00000381398:S64R;ENSP00000369894:S64R	ENSP00000369894:S64R	S	-	3	2	GEMIN8	13948398	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.217000	0.09253	0.975000	0.38392	-0.306000	0.09157	AGC		TCGA-IB-7651-01A-11D-2154-08	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	1	0	1	140	489	0	139	1	9.999998e-01	33	44	0	139	2		0	0	0	0	0	2	1	1	138	477	0	138	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEC3	139081	broad.mit.edu	37	X	140969366	140969366	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140969366G>A	ENST00000298296.1	+	4	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3			69	Acute lymphoblastic leukemia(192;6.56e-05)				AAGCCCGTGAGTTCATAGAGA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000298296.1	1	1	hg19	CCDS14676.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	1	0	1	154	570	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	1	150	564	0	165	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEC3	139081	broad.mit.edu	37	X	140985426	140985426	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140985426G>A	ENST00000298296.1	+	8	1740	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000544766.1_Missense_Mutation_p.A330T	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3			69	Acute lymphoblastic leukemia(192;6.56e-05)				CCATTCAGAGGCCAGCAAGAG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000298296.1	1	1	hg19	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.000581	0.00431	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	1.25	-0.779	0.10973	.	.	.	.	.	T	0.01592	0.0051	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.23275	0.045	T	0.44742	-0.9308	8	0.02654	T	1	.	3.1264	0.06408	0.6987:0.0:0.3013:0.0	.	330	Q3SYA7	.	T	330;250;330;330	ENSP00000441107:A330T;ENSP00000438254:A250T;ENSP00000440444:A330T;ENSP00000386566:A330T	ENSP00000386566:A330T	A	+	1	0	MAGEC3	140813092	0.002000	0.14202	0.038000	0.18304	0.018000	0.09664	0.015000	0.13355	-0.094000	0.12374	-0.739000	0.03532	GCC		TCGA-IB-7651-01A-11D-2154-08	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	1	0	1	122	429	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1	117	422	0	126	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEC1	9947	broad.mit.edu	37	X	140994053	140994053	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994053C>A	ENST00000285879.4	+	4	1149	c.863C>A	c.(862-864)cCt>cAt	p.P288H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1			127	Acute lymphoblastic leukemia(192;6.56e-05)				CAGAGTTCCCCTGAGAGAACT	0.488000										HNSCC(15;0.026)														0							SO:0001583	missense			ENST00000285879.4	1	1	hg19	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.342	0.248409	0.10130	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.14893	3.24;2.47	.	.	.	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	D	0.54964	0.969	P	0.47162	0.54	T	0.28427	-1.0044	8	0.39692	T	0.17	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	288	O60732	MAGC1_HUMAN	H	288;90;89	ENSP00000285879:P288H;ENSP00000359542:P90H	ENSP00000285879:P288H	P	+	2	0	MAGEC1	140821719	0.000000	0.05858	0.024000	0.17045	0.024000	0.10985	-0.143000	0.10296	0.148000	0.19059	0.150000	0.16122	CCT		TCGA-IB-7651-01A-11D-2154-08	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1	276	688	0	244		0	0	0	0	244	2		0	0	0	0	0	2	1	1	270	550	0	226	2								-13.500160	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEC1	9947	broad.mit.edu	37	X	140994195	140994195	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994195G>T	ENST00000285879.4	+	4	1291	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1			127	Acute lymphoblastic leukemia(192;6.56e-05)				GTTTTCCCCAGTCTCTTCTCC	0.458000										HNSCC(15;0.026)														0							SO:0001583	missense			ENST00000285879.4	1	1	hg19	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	1.900	-0.453329	0.04540	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.40806	D	0.983384	P	0.50156	0.932	B	0.37144	0.242	T	0.67684	-0.5607	8	0.87932	D	0	.	5.9409	0.19192	6.0E-4:0.0:0.9994:0.0	.	335	O60732	MAGC1_HUMAN	H	335	ENSP00000285879:Q335H	ENSP00000285879:Q335H	Q	+	3	2	MAGEC1	140821861	0.347000	0.24853	0.136000	0.22124	0.136000	0.21042	1.465000	0.35299	0.148000	0.19059	0.150000	0.16122	CAG		TCGA-IB-7651-01A-11D-2154-08	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1	291	933	0	322		0	0	0	0	322	2		0	0	0	0	0	2	1	1	282	890	0	322	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEC1	9947	broad.mit.edu	37	X	140994977	140994977	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994977C>T	ENST00000285879.4	+	4	2073	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1			127	Acute lymphoblastic leukemia(192;6.56e-05)				CACTACTTTCCTCAGAGCCCT	0.577000										HNSCC(15;0.026)														0							SO:0001583	missense			ENST00000285879.4	1	1	hg19	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187076	0.38609	.	.	ENSG00000155495	ENST00000285879	T	0.15139	2.45	0.96	0.96	0.19631	.	.	.	.	.	T	0.17874	0.0429	N	0.08118	0	0.58432	D	0.999999	D	0.64830	0.994	D	0.73708	0.981	T	0.09552	-1.0669	9	0.87932	D	0	.	7.647	0.28325	0.0:0.9999:0.0:1.0E-4	.	596	O60732	MAGC1_HUMAN	L	596	ENSP00000285879:P596L	ENSP00000285879:P596L	P	+	2	0	MAGEC1	140822643	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.017000	0.12590	0.187000	0.20147	0.190000	0.17370	CCT		TCGA-IB-7651-01A-11D-2154-08	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1	441	1589	0	574		0	0	0	0	574	2		0	0	0	0	0	2	1	1	432	1541	0	562	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEC1	9947	broad.mit.edu	37	X	140995885	140995885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995885G>T	ENST00000285879.4	+	4	2981	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1			127	Acute lymphoblastic leukemia(192;6.56e-05)				GTCCTTGATAGAGAGCGAGCC	0.478000										HNSCC(15;0.026)														0							SO:0001587	stop_gained			ENST00000285879.4	0	1	hg19	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	37	6.161445	0.97338	.	.	ENSG00000155495	ENST00000285879	.	.	.	1.38	0.437	0.16555	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.3967	0.07308	0.2958:0.0:0.7042:0.0	.	.	.	.	X	899	.	ENSP00000285879:E899X	E	+	1	0	MAGEC1	140823551	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.199000	0.17237	0.084000	0.17077	0.279000	0.19357	GAG		TCGA-IB-7651-01A-11D-2154-08	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1	247	970	0	311		0	0	0	0	311	2		0	0	0	0	0	2	1	1	245	960	1	308	15								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEC1	9947	broad.mit.edu	37	X	140995998	140995998	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995998G>A	ENST00000285879.4	+	4	3094	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_ENST00000406005.2_Silent_p.T3T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1			127	Acute lymphoblastic leukemia(192;6.56e-05)				AGATGCTGACGAATGTCATCA	0.468000										HNSCC(15;0.026)														0							SO:0001819	synonymous_variant			ENST00000285879.4	1	1	hg19	CCDS35417.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1	207	794	0	243		0	0	0	0	243	2		0	0	0	0	0	2	1	1	205	784	0	241	2								-20.000000	1	1	121410	4	37	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEC1	9947	broad.mit.edu	37	X	140996169	140996169	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140996169C>T	ENST00000285879.4	+	4	3265	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	MAGEC1_ENST00000406005.2_Silent_p.G60G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1			127	Acute lymphoblastic leukemia(192;6.56e-05)				ATGAGCAGGGCATGTCCCAGA	0.483000										HNSCC(15;0.026)														0							SO:0001819	synonymous_variant			ENST00000285879.4	1	1	hg19	CCDS35417.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1	142	543	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	1	141	529	0	141	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK4	139065	broad.mit.edu	37	X	142716967	142716967	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142716967T>C	ENST00000381779.4	-	2	2183	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4			60	Acute lymphoblastic leukemia(192;6.56e-05)				CAGGCCTTCGTGCTTCACTGT	0.448000																								0							SO:0001583	missense			ENST00000381779.4	1	1	hg19	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	4.134	0.023160	0.08006	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.36	5.36	0.76844	.	0.066272	0.64402	U	0.000009	T	0.34600	0.0903	L	0.29908	0.895	0.58432	D	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.13791	-1.0496	10	0.15952	T	0.53	-10.4493	13.1266	0.59358	0.0:0.0:0.0:1.0	.	653	Q8IW52	SLIK4_HUMAN	R	653	ENSP00000371198:H653R;ENSP00000349400:H653R;ENSP00000336627:H653R	ENSP00000336627:H653R	H	-	2	0	SLITRK4	142544633	1.000000	0.71417	0.910000	0.35882	0.933000	0.57130	6.298000	0.72763	1.781000	0.52344	0.417000	0.27973	CAC		TCGA-IB-7651-01A-11D-2154-08	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	1	0	1	166	643	0	175	0	1.098501e-01	0	3	0	175	2		0	0	0	0	0	2	1	1	165	633	0	174	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK4	139065	broad.mit.edu	37	X	142717676	142717676	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142717676T>C	ENST00000381779.4	-	2	1474	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E	SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4			60	Acute lymphoblastic leukemia(192;6.56e-05)				ACGTCTCCCTTAATCACTGTA	0.383000																								0							SO:0001583	missense			ENST00000381779.4	1	1	hg19	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	9.702	1.154735	0.21371	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.50001	0.76;0.76;0.76	5.29	4.09	0.47781	.	0.172029	0.47852	D	0.000218	T	0.18841	0.0452	N	0.01817	-0.705	0.35030	D	0.758698	B	0.02656	0.0	B	0.06405	0.002	T	0.15263	-1.0443	10	0.10902	T	0.67	-12.1744	9.6744	0.40032	0.0:0.0:0.3327:0.6672	.	417	Q8IW52	SLIK4_HUMAN	E	417	ENSP00000371198:K417E;ENSP00000349400:K417E;ENSP00000336627:K417E	ENSP00000336627:K417E	K	-	1	0	SLITRK4	142545342	1.000000	0.71417	0.885000	0.34714	0.972000	0.66771	1.931000	0.40134	0.718000	0.32166	0.437000	0.28790	AAG		TCGA-IB-7651-01A-11D-2154-08	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	1	0	1	123	397	0	149	0	4.358551e-01	0	6	0	149	2		0	0	0	0	0	2	1	1	122	389	0	147	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLITRK2	84631	broad.mit.edu	37	X	144906288	144906288	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:144906288G>A	ENST00000370490.1	+	1	6600	c.2345G>A	c.(2344-2346)aGg>aAg	p.R782K	SLITRK2_ENST00000428560.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|TMEM257_ENST00000408967.2_5'Flank			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2			86	Acute lymphoblastic leukemia(192;6.56e-05)				TTACCTAAAAGGCAGTTTGCC	0.458000																								0							SO:0001583	missense			ENST00000370490.1	1	1	hg19	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934289	0.34096	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.38	5.38	0.77491	.	0.103397	0.64402	D	0.000004	T	0.33789	0.0875	N	0.22421	0.69	0.43879	D	0.996496	B	0.09022	0.002	B	0.04013	0.001	T	0.13098	-1.0522	10	0.15066	T	0.55	-2.9919	15.4932	0.75629	0.0:0.0:1.0:0.0	.	782	Q9H156	SLIK2_HUMAN	K	782	ENSP00000411681:R782K;ENSP00000359521:R782K;ENSP00000397015:R782K;ENSP00000407347:R782K;ENSP00000412010:R782K	ENSP00000359521:R782K	R	+	2	0	SLITRK2	144713980	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.352000	0.66028	2.251000	0.74343	0.600000	0.82982	AGG		TCGA-IB-7651-01A-11D-2154-08	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	0	0	0	30	764	0	185		0	0	0	0	185	2		0	0	0	0	0	2	1	1	30	744	0	184	2								-3.618371	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.440000	0.300000	0.610000	0.440000	0.455349	0.440000	0	3.700000e-01	5.300000e-01
GLRA2	2742	broad.mit.edu	37	X	14548183	14548183	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14548183A>G	ENST00000218075.4	+	1	534	c.4A>G	c.(4-6)Aac>Gac	p.N2D	GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2			37	Hepatocellular(33;0.128)			Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AACAGGAATGAACCGGCAGCT	0.378000																								0							SO:0001583	missense			ENST00000218075.4	1	1	hg19	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609106	0.28623	.	.	ENSG00000101958	ENST00000218075;ENST00000355020	T;T	0.79141	-1.24;-1.24	5.47	4.28	0.50868	.	0.080983	0.52532	D	0.000071	T	0.67116	0.2859	N	0.08118	0	0.80722	D	1	P;P	0.49696	0.88;0.927	P;P	0.56563	0.636;0.801	T	0.62053	-0.6935	10	0.07644	T	0.81	.	10.5663	0.45175	0.8539:0.0:0.0:0.1461	.	2;2	P23416;P23416-2	GLRA2_HUMAN;.	D	2	ENSP00000218075:N2D;ENSP00000347123:N2D	ENSP00000218075:N2D	N	+	1	0	GLRA2	14458104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.505000	0.60421	0.777000	0.33496	0.441000	0.28932	AAC		TCGA-IB-7651-01A-11D-2154-08	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1	1	0	1	95	341	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1	95	337	0	105	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GLRA2	2742	broad.mit.edu	37	X	14625300	14625300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14625300C>A	ENST00000218075.4	+	6	1155	c.625C>A	c.(625-627)Cca>Aca	p.P209T	GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2			37	Hepatocellular(33;0.128)			Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AAGTGATGGTCCAGTGCAAGT	0.403000																								0							SO:0001583	missense			ENST00000218075.4	1	1	hg19	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009569	0.75046	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.143817	0.64402	D	0.000005	D	0.84392	0.5462	M	0.62723	1.935	0.58432	D	0.999999	P;P;P	0.43024	0.798;0.643;0.736	P;B;P	0.52823	0.595;0.188;0.71	D	0.85646	0.1279	10	0.87932	D	0	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	193;209;209	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	120;209;209;193	ENSP00000387756:P120T;ENSP00000218075:P209T;ENSP00000347123:P209T;ENSP00000391606:P193T	ENSP00000218075:P209T	P	+	1	0	GLRA2	14535221	0.993000	0.37304	1.000000	0.80357	0.950000	0.60333	2.720000	0.47252	2.471000	0.83476	0.600000	0.82982	CCA		TCGA-IB-7651-01A-11D-2154-08	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1	1	0	1	125	459	0	149		0	0	0	0	149	2		0	0	0	0	0	2	1	1	122	453	0	148	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMR1	2332	broad.mit.edu	37	X	147024736	147024736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147024736G>A	ENST00000370475.4	+	14	1489	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FMR1_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H|FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000218200.8_Missense_Mutation_p.R433H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	p.R454P(1)		35	Acute lymphoblastic leukemia(192;6.56e-05)				CCACCAAATCGTACAGATAAG	0.448000									Fragile X syndrome															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	ENST00000370475.4	1	1	hg19	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263875	0.80358	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.91635	0.993;0.999;0.995;0.904;0.997	T	0.54892	-0.8225	10	0.37606	T	0.19	-20.0485	17.5771	0.87953	0.0:0.0:1.0:0.0	.	101;454;349;433;431	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	433;433;454;431;454;101	ENSP00000218200:R433H;ENSP00000359508:R433H;ENSP00000359506:R454H;ENSP00000395923:R431H;ENSP00000359501:R454H;ENSP00000413764:R101H	ENSP00000218200:R433H	R	+	2	0	FMR1	146832428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.593000	0.67550	2.367000	0.80283	0.600000	0.82982	CGT		TCGA-IB-7651-01A-11D-2154-08	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	0	0	1	136	499	0	139	1	1	44	47	0	139	2		0	0	0	0	0	2	1	1	135	488	0	139	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FMR1	2332	broad.mit.edu	37	X	147026464	147026464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147026464C>A	ENST00000370475.4	+	15	1675	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D	FMR1_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000370471.3_Splice_Site_p.L426I|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1_ENST00000370470.1_Splice_Site_p.A491D|FMR1_ENST00000218200.8_Missense_Mutation_p.A495D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D|FMR1-IT1_ENST00000441414.1_RNA	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1			35	Acute lymphoblastic leukemia(192;6.56e-05)				TGGTCATTAGCTCCAACAGAG	0.507000									Fragile X syndrome															0							SO:0001583	missense	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	ENST00000370475.4	1	1	hg19	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.511002|3.511002	0.64522|0.64522	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235|ENST00000370471	T;T;T;T;T;T|T	0.38077|0.55413	1.16;1.16;1.16;1.16;1.5;1.16|0.52	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;1.0;0.999;0.999;0.998|.	T|T	0.64097|0.64097	-0.6487|-0.6487	10|7	0.23891|0.66056	T|D	0.37|0.02	-30.7702|-30.7702	17.5377|17.5377	0.87837|0.87837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163;516;411;470;493|.	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0|.	.;FMR1_HUMAN;.;.;.|.	D|I	495;483;516;493;491;163|426	ENSP00000218200:A495D;ENSP00000359508:A483D;ENSP00000359506:A516D;ENSP00000395923:A493D;ENSP00000359501:A491D;ENSP00000413764:A163D|ENSP00000359502:L426I	ENSP00000218200:A495D|ENSP00000359502:L426I	A|L	+|+	2|1	0|0	FMR1|FMR1	146834156|146834156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.612000|0.612000	0.37316|0.37316	7.218000|7.218000	0.77991|0.77991	2.357000|2.357000	0.79964|0.79964	0.506000|0.506000	0.49869|0.49869	GCT|CTC		TCGA-IB-7651-01A-11D-2154-08	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	0	0	1	7	82	0	37	1	9.976075e-01	30	114	0	37	2		0	0	0	0	0	2	1	9.788031e-01	7	78	0	37	2								-11.928880	1	1	121380	1	28	1	0	1	1			0.170000	2.060000	1.700000e-01	0.930000	0.430000	1.000000	1.000000	0.858699	0.930000	1	6.500000e-01	1
FMR1NB	158521	broad.mit.edu	37	X	147063094	147063094	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147063094C>T	ENST00000370467.3	+	1	246	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor			25	Acute lymphoblastic leukemia(192;6.56e-05)				GCCAGGATGGCGGGAATCTCT	0.557000																								0							SO:0001583	missense			ENST00000370467.3	1	1	hg19	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901792	0.33535	.	.	ENSG00000176988	ENST00000370467	T	0.46819	0.86	1.91	0.998	0.19857	.	.	.	.	.	T	0.39989	0.1099	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.18209	-1.0344	9	0.45353	T	0.12	-0.0892	5.054	0.14524	0.35:0.65:0.0:0.0	.	58	Q8N0W7	FMR1N_HUMAN	W	58	ENSP00000359498:R58W	ENSP00000359498:R58W	R	+	1	2	FMR1NB	146870786	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.401000	0.07232	0.268000	0.21939	0.552000	0.68991	CGG		TCGA-IB-7651-01A-11D-2154-08	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	0	0	0	92	326	1	121		0	0	0	1	121	2		0	0	0	0	0	2	1	1	89	317	1	120	13								-3.916554	1	1	121410	1	34	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF2	2334	broad.mit.edu	37	X	147744092	147744092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147744092C>T	ENST00000370460.2	+	3	1323	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2			109	Acute lymphoblastic leukemia(192;6.56e-05)				AAGCATGGGGCAGCAAAAGCC	0.507000																								0							SO:0001587	stop_gained			ENST00000370460.2	0	1	hg19	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	42	9.387678	0.99156	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.814	0.92070	0.0:1.0:0.0:0.0	.	.	.	.	X	282;278;278;278	.	ENSP00000345459:Q278X	Q	+	1	0	AFF2	147551784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	2.389000	0.81357	0.600000	0.82982	CAG		TCGA-IB-7651-01A-11D-2154-08	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	0	158	488	0	156	0	1.506701e-01	0	3	0	156	2		0	0	0	0	0	2	1	1	154	472	0	155	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF2	2334	broad.mit.edu	37	X	148035155	148035155	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148035155C>T	ENST00000370460.2	+	10	1922	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	AFF2_ENST00000370457.5_Silent_p.S448S|AFF2_ENST00000342251.3_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2			109	Acute lymphoblastic leukemia(192;6.56e-05)				TGCAAGCCAGCGGGGGTTCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000370460.2	1	1	hg19	CCDS14684.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1	85	685	0	189	0	0	0	1	0	189	2		0	0	0	0	0	2	1	1	83	675	0	187	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999726	0.990000	1	9.900000e-01	1
AFF2	2334	broad.mit.edu	37	X	148049205	148049205	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148049205C>T	ENST00000370460.2	+	15	3729	c.3250C>T	c.(3250-3252)Cac>Tac	p.H1084Y	AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y|AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2			109	Acute lymphoblastic leukemia(192;6.56e-05)				GAAGCTGAAGCACAAAGCTGA	0.338000																								0							SO:0001583	missense			ENST00000370460.2	1	1	hg19	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585519	0.86748	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.978;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.992;0.98;0.991;0.997;0.997;0.998	D	0.85895	0.1431	10	0.72032	D	0.01	.	19.1178	0.93348	0.0:1.0:0.0:0.0	.	725;1049;1049;1045;1074;1084	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1084;1049;1051;725	ENSP00000359489:H1084Y;ENSP00000359486:H1049Y;ENSP00000345459:H1051Y;ENSP00000286437:H725Y	ENSP00000286437:H725Y	H	+	1	0	AFF2	147856899	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.783000	0.85696	2.465000	0.83290	0.594000	0.82650	CAC		TCGA-IB-7651-01A-11D-2154-08	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1	67	223	0	68	0	1.384089e-01	0	3	0	68	2		0	0	0	0	0	2	1	1	66	223	0	68	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF2	2334	broad.mit.edu	37	X	148069061	148069061	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148069061C>T	ENST00000370460.2	+	20	4267	c.3788C>T	c.(3787-3789)gCc>gTc	p.A1263V	AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V|AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2			109	Acute lymphoblastic leukemia(192;6.56e-05)				TGGGATATGGCCGACAAACTG	0.478000																								0							SO:0001583	missense			ENST00000370460.2	1	1	hg19	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511101	0.96386	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89812	0.6823	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.995;0.998;0.998;0.998;0.999	D	0.91090	0.4906	10	0.87932	D	0	.	18.9513	0.92642	0.0:1.0:0.0:0.0	.	904;1228;1228;1224;1253;1263	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1263;1228;1230;904	ENSP00000359489:A1263V;ENSP00000359486:A1228V;ENSP00000345459:A1230V;ENSP00000286437:A904V	ENSP00000286437:A904V	A	+	2	0	AFF2	147876767	1.000000	0.71417	0.955000	0.39395	0.912000	0.54170	7.786000	0.85741	2.423000	0.82170	0.600000	0.82982	GCC		TCGA-IB-7651-01A-11D-2154-08	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1	81	380	0	160	0	8.326073e-02	0	3	0	160	2		0	0	0	0	0	2	1	1	78	376	0	157	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AFF2	2334	broad.mit.edu	37	X	148072854	148072854	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148072854T>G	ENST00000370460.2	+	21	4407	c.3928T>G	c.(3928-3930)Ttg>Gtg	p.L1310V	AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V|AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2			109	Acute lymphoblastic leukemia(192;6.56e-05)				CGATGCCCACTTGTTGTAGTG	0.562000																								0							SO:0001583	missense			ENST00000370460.2	1	1	hg19	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195460	0.58126	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;D	0.82167	-0.89;-1.16;-1.16;-1.58	5.46	2.74	0.32292	.	0.000000	0.56097	D	0.000021	D	0.86293	0.5898	L	0.47716	1.5	0.42839	D	0.994048	B;P;B;D;D;D	0.89917	0.361;0.526;0.342;1.0;1.0;0.999	B;P;B;D;D;D	0.83275	0.235;0.825;0.367;0.996;0.996;0.991	D	0.85580	0.1239	10	0.66056	D	0.02	.	9.8601	0.41109	0.0:0.1681:0.0:0.8319	.	951;1275;1275;1271;1300;1310	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1310;1275;1277;951	ENSP00000359489:L1310V;ENSP00000359486:L1275V;ENSP00000345459:L1277V;ENSP00000286437:L951V	ENSP00000286437:L951V	L	+	1	2	AFF2	147880560	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	2.860000	0.48372	0.718000	0.32166	-0.330000	0.08379	TTG		TCGA-IB-7651-01A-11D-2154-08	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	0	0	1	165	542	0	156	0	0	0	1	0	156	2		0	0	0	0	0	2	1	1	165	536	0	156	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEA11	4110	broad.mit.edu	37	X	148797776	148797776	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797776C>T	ENST00000355220.5	+	5	732	c.630C>T	c.(628-630)gaC>gaT	p.D210D	MAGEA11_ENST00000333104.4_Silent_p.D181D	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11			9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)				CCTCGCCTGACCTGATAGACC	0.488000																								0							SO:0001819	synonymous_variant			ENST00000355220.5	0	1	hg19	CCDS48180.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	0	0	0	13	612	0	141		0	0	0	0	141	2		0	0	0	0	0	2	1	9.994852e-01	13	602	0	138	2								-10.437380	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.240000	0.130000	0.400000	0.240000	0.260625	0.240000	0	1.800000e-01	3.300000e-01
MAGEA11	4110	broad.mit.edu	37	X	148797891	148797891	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797891C>A	ENST00000355220.5	+	5	847	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11			9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)				GGCAGAAATGCTGGGGAGTGT	0.413000																								0							SO:0001583	missense			ENST00000355220.5	1	1	hg19	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	8.490	0.861790	0.17178	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.06068	3.35;3.35;3.35	0.976	0.0829	0.14431	.	.	.	.	.	T	0.18341	0.0440	M	0.80028	2.48	0.09310	N	1	D;D	0.63880	0.984;0.993	P;D	0.66196	0.904;0.942	T	0.09530	-1.0670	9	0.59425	D	0.04	.	3.3012	0.06984	0.0:0.6881:0.0:0.3119	.	220;249	G5E962;P43364	.;MAGAB_HUMAN	M	220;220;249	ENSP00000391496:L220M;ENSP00000328177:L220M;ENSP00000347358:L249M	ENSP00000328177:L220M	L	+	1	2	MAGEA11	148576514	0.432000	0.25554	0.004000	0.12327	0.059000	0.15707	-0.191000	0.09601	-0.041000	0.13558	-0.426000	0.05927	CTG		TCGA-IB-7651-01A-11D-2154-08	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	1	0	1	146	563	0	212		0	0	0	0	212	2		0	0	0	0	0	2	1	1	144	551	0	211	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FANCB	2187	broad.mit.edu	37	X	14883249	14883249	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14883249A>G	ENST00000324138.3	-	2	537	c.384T>C	c.(382-384)taT>taC	p.Y128Y	FANCB_ENST00000398334.1_Silent_p.Y128Y	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B			24	Hepatocellular(33;0.183)				CCTTCATCTCATAGCCTAGTT	0.308000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia															0							SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000324138.3	1	1	hg19	CCDS14161.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	1	0	1	66	157	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	1	65	154	0	52	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEA8	4107	broad.mit.edu	37	X	149013843	149013843	+	Missense_Mutation	SNP	G	G	A	rs45577435		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149013843G>A	ENST00000542674.1	+	3	1318	c.797G>A	c.(796-798)gGc>gAc	p.G266D	MAGEA8_ENST00000535454.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8			20	Acute lymphoblastic leukemia(192;6.56e-05)				CAGGCGCCCGGCAGTGATCCT	0.572000																								0							SO:0001583	missense			ENST00000542674.1	1	1	hg19	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	5.488	0.274967	0.10403	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04551	3.6;3.6;3.6	1.0	-0.00804	0.14006	.	1.973700	0.02584	N	0.099221	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B	0.19935	0.04	B	0.28709	0.093	T	0.41787	-0.9489	10	0.27082	T	0.32	.	3.2982	0.06974	0.3338:0.0:0.6662:0.0	rs45577435	266	P43361	MAGA8_HUMAN	D	266	ENSP00000438293:G266D;ENSP00000443776:G266D;ENSP00000286482:G266D	ENSP00000286482:G266D	G	+	2	0	MAGEA8	148774501	0.000000	0.05858	0.116000	0.21606	0.417000	0.31264	-0.366000	0.07563	-0.074000	0.12820	0.190000	0.17370	GGC		TCGA-IB-7651-01A-11D-2154-08	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	1	0	1	194	662	0	240		0	0	0	0	240	2		0	0	0	0	0	2	1	1	191	652	0	236	2								-20.000000	1	1	121400	2	36	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CXorf40B	541578	broad.mit.edu	37	X	149100935	149100935	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149100935C>T	ENST00000370406.3	-	5	1132	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N|CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B			5	Acute lymphoblastic leukemia(192;6.56e-05)				ACAACCTCATCGGGAGTTAAG	0.473000																								0							SO:0001583	missense			ENST00000370406.3	1	1	hg19	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	c	0.900	-0.722721	0.03158	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	3.22	-0.0889	0.13671	PUA-like domain (1);	1.024090	0.07763	N	0.950486	T	0.21062	0.0507	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30707	-0.9969	10	0.34782	T	0.22	-0.026	4.5761	0.12234	0.0:0.4414:0.3349:0.2237	.	102	Q96DE9	CX04B_HUMAN	N	102	ENSP00000417546:D102N;ENSP00000359434:D102N;ENSP00000347339:D102N;ENSP00000359432:D102N	ENSP00000347339:D102N	D	-	1	0	CXorf40B	148851593	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.764000	0.26532	-0.477000	0.06832	-0.731000	0.03576	GAT		TCGA-IB-7651-01A-11D-2154-08	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	1	0	0	22	225	0	80	1	9.999593e-01	27	143	0	80	2		0	0	0	0	0	2	1	9.999950e-01	22	190	0	104	2								-8.620638	1	1	121308	2	32	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.680000	1.000000	1.000000	0.946340	0.990000	1	8.500000e-01	1
CXorf40B	541578	broad.mit.edu	37	X	149101878	149101878	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149101878A>C	ENST00000370406.3	-	4	1043	c.215T>G	c.(214-216)cTc>cGc	p.L72R	CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B			5	Acute lymphoblastic leukemia(192;6.56e-05)				CCCTTTCCTGAGCAAGGCCTG	0.562000																								0							SO:0001583	missense			ENST00000370406.3	1	1	hg19	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	a	15.27	2.784764	0.49997	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	2.94	2.94	0.34122	PUA-like domain (1);	0.148635	0.44483	D	0.000459	T	0.43122	0.1233	M	0.81682	2.555	0.09310	N	0.999995	D	0.69078	0.997	D	0.66351	0.943	T	0.24190	-1.0167	10	0.87932	D	0	-16.5797	9.9496	0.41631	1.0:0.0:0.0:0.0	.	72	Q96DE9	CX04B_HUMAN	R	72	ENSP00000417546:L72R;ENSP00000359434:L72R;ENSP00000347339:L72R;ENSP00000359432:L72R	ENSP00000347339:L72R	L	-	2	0	CXorf40B	148852536	0.382000	0.25148	0.003000	0.11579	0.002000	0.02628	5.177000	0.65032	0.877000	0.35895	0.371000	0.22339	CTC		TCGA-IB-7651-01A-11D-2154-08	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	0	0	1	61	836	0	227	1	9.999898e-01	35	186	0	227	2		0	0	0	0	0	2	1	1	60	808	0	238	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.790000	0.610000	1.000000	0.800000	0.805532	0.790000	0	7.000000e-01	9.000000e-01
MOSPD2	158747	broad.mit.edu	37	X	14929376	14929376	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14929376C>A	ENST00000380492.3	+	9	808	c.720C>A	c.(718-720)agC>agA	p.S240R	MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2			20	Hepatocellular(33;0.183)				TCAAGTATAGCTATCCACCAC	0.373000																								0							SO:0001583	missense			ENST00000380492.3	1	1	hg19	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302246	0.60195	.	.	ENSG00000130150	ENST00000380492	T	0.61274	0.12	4.85	3.72	0.42706	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.078294	0.85682	D	0.000000	T	0.62986	0.2473	M	0.75264	2.295	0.58432	D	0.999998	D	0.58620	0.983	P	0.55455	0.776	T	0.65113	-0.6247	10	0.46703	T	0.11	.	3.4507	0.07496	0.0:0.5535:0.0:0.4465	.	240	Q8NHP6	MSPD2_HUMAN	R	240	ENSP00000369860:S240R	ENSP00000369860:S240R	S	+	3	2	MOSPD2	14839297	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	0.855000	0.27805	2.120000	0.65058	0.594000	0.82650	AGC		TCGA-IB-7651-01A-11D-2154-08	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	1	0	1	142	607	0	224	1	9.973351e-01	17	23	0	224	2		0	0	0	0	0	2	1	1	138	601	0	223	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAMLD1	10046	broad.mit.edu	37	X	149638350	149638350	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149638350G>A	ENST00000370401.2	+	4	815	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	p.V96L(1)|p.V144L(1)|p.V169L(1)		37	Acute lymphoblastic leukemia(192;6.56e-05)				AATCAACAGCGTGCCGGCTGT	0.478000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000370401.2	1	1	hg19	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.280684	0.00254	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.65178	0.21;-0.14;0.21;0.23	5.36	-10.7	0.00240	.	1.563870	0.03344	N	0.195271	T	0.33235	0.0856	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26258	0.116;0.032;0.002;0.145	B;B;B;B	0.18871	0.023;0.014;0.004;0.014	T	0.30149	-0.9988	10	0.35671	T	0.21	0.5407	6.6423	0.22917	0.6297:0.1798:0.0807:0.1098	.	131;144;144;169	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	M	131;169;144;169;144	ENSP00000359428:V169M;ENSP00000414517:V144M;ENSP00000262858:V169M;ENSP00000397438:V144M	ENSP00000262858:V169M	V	+	1	0	MAMLD1	149389008	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.262000	0.01175	-3.170000	0.00225	-1.158000	0.01797	GTG		TCGA-IB-7651-01A-11D-2154-08	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	1	0	1	122	364	0	128	0	7.021056e-01	0	9	0	128	2		0	0	0	0	0	2	1	1	118	360	0	127	2								-20.000000	1	1	121410	2	39	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTM1	4534	broad.mit.edu	37	X	149809786	149809786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149809786C>A	ENST00000370396.2	+	8	627	c.573C>A	c.(571-573)tgC>tgA	p.C191*	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1			26	Acute lymphoblastic leukemia(192;6.56e-05)				TTAATAAGTGCTATGAGCTCT	0.433000																								0							SO:0001587	stop_gained			ENST00000370396.2	0	1	hg19	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788925	0.96945	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	.	.	.	5.44	3.67	0.42095	.	0.258803	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.5168	0.07727	0.1805:0.5115:0.0:0.3081	.	.	.	.	X	191;96;76;154	.	ENSP00000359423:C191X	C	+	3	2	MTM1	149560444	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.628000	0.24522	0.585000	0.29608	0.529000	0.55759	TGC		TCGA-IB-7651-01A-11D-2154-08	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	1	0	0	103	342	0	80	0	8.018288e-01	1	11	0	80	2		0	0	0	0	0	2	1	1	102	336	0	80	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MTMR1	8776	broad.mit.edu	37	X	149924229	149924229	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149924229C>A	ENST00000370390.3	+	14	1882	c.1725C>A	c.(1723-1725)ccC>ccA	p.P575P	MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000445323.2_Silent_p.P583P|MTMR1_ENST00000544228.1_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1			23	Acute lymphoblastic leukemia(192;6.56e-05)				TTTCTAATCCCTTCTTTGTGA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000370390.3	1	1	hg19	CCDS14695.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	1	0	1	82	236	0	68	1	9.990496e-01	16	17	0	68	2		0	0	0	0	0	2	1	1	81	234	0	68	2								-4.883816	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PASD1	139135	broad.mit.edu	37	X	150832667	150832667	+	Missense_Mutation	SNP	C	C	A	rs147926578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150832667C>A	ENST00000370357.4	+	11	1163	c.918C>A	c.(916-918)ttC>ttA	p.F306L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1			48	Acute lymphoblastic leukemia(192;6.56e-05)				ACCTGGAGTTCTCGGTGGATC	0.582000																								0							SO:0001583	missense			ENST00000370357.4	1	1	hg19	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297625	0.23650	.	.	ENSG00000166049	ENST00000370357	T	0.66815	-0.23	2.65	-5.3	0.02738	.	.	.	.	.	T	0.36331	0.0963	N	0.19112	0.55	0.09310	N	1	P	0.36837	0.571	B	0.29663	0.105	T	0.19647	-1.0299	9	0.27785	T	0.31	.	1.4193	0.02309	0.1607:0.3324:0.3202:0.1867	.	306	Q8IV76	PASD1_HUMAN	L	306	ENSP00000359382:F306L	ENSP00000359382:F306L	F	+	3	2	PASD1	150583323	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-3.997000	0.00317	-2.092000	0.00857	0.529000	0.55759	TTC		TCGA-IB-7651-01A-11D-2154-08	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	1	0	1	90	307	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1	89	299	0	99	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FATE1	89885	broad.mit.edu	37	X	150889958	150889958	+	Missense_Mutation	SNP	G	G	A	rs138889158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150889958G>A	ENST00000370350.3	+	3	411	c.326G>A	c.(325-327)cGt>cAt	p.R109H		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1			15	Acute lymphoblastic leukemia(192;6.56e-05)				CAAGGCATACGTTTCCATTAT	0.592000																								0							SO:0001583	missense			ENST00000370350.3	1	1	hg19	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344934	0.41498	2.61E-4	2.97E-4	ENSG00000147378	ENST00000370350	T	0.50548	0.74	3.86	-0.981	0.10269	.	1.771650	0.03809	N	0.265624	T	0.32406	0.0828	L	0.34521	1.04	0.09310	N	1	P	0.44627	0.839	B	0.32762	0.152	T	0.36432	-0.9748	10	0.56958	D	0.05	-1.8615	7.3918	0.26913	0.6058:0.0:0.3942:0.0	.	109	Q969F0	FATE1_HUMAN	H	109	ENSP00000359375:R109H	ENSP00000359375:R109H	R	+	2	0	FATE1	150640614	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.331000	0.19733	-0.382000	0.07870	0.483000	0.47432	CGT		TCGA-IB-7651-01A-11D-2154-08	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	0	0	1	70	224	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1	70	224	0	59	2								-20.000000	1	1	121410	57	47	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNGA2	1260	broad.mit.edu	37	X	150911635	150911635	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150911635G>A	ENST00000329903.4	+	6	693	c.660G>A	c.(658-660)caG>caA	p.Q220Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2			49	Acute lymphoblastic leukemia(192;6.56e-05)				ACACCCTGCAGTTCAAGCTGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000329903.4	1	1	hg19	CCDS14701.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	1	0	1	97	259	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1	95	255	0	80	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEA4	4103	broad.mit.edu	37	X	151092439	151092439	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151092439C>T	ENST00000360243.2	+	3	570	c.303C>T	c.(301-303)gaC>gaT	p.D101D	MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370335.1_Silent_p.D101D|MAGEA4_ENST00000370340.3_Silent_p.D101D|MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4			27	Acute lymphoblastic leukemia(192;6.56e-05)				CCTCGCCTGACGCAGAGTCCT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000360243.2	1	1	hg19	CCDS14702.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	1	0	0	98	344	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	96	342	0	111	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRE	2564	broad.mit.edu	37	X	151124015	151124015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151124015G>A	ENST00000370328.3	-	8	1015	c.962C>T	c.(961-963)aCc>aTc	p.T321I	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.T321I|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	p.T321I(1)|p.T208I(1)		27	Acute lymphoblastic leukemia(192;6.56e-05)			Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCCAACGTGGTCATGGTCAG	0.498000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000370328.3	1	1	hg19	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793592	0.70452	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93763	-3.28;-3.28	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000020	D	0.94751	0.8306	L	0.41415	1.275	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.95260	0.8368	10	0.87932	D	0	.	16.4778	0.84137	0.0:0.0:1.0:0.0	.	321	P78334	GBRE_HUMAN	I	321	ENSP00000359353:T321I;ENSP00000359350:T321I	ENSP00000359350:T321I	T	-	2	0	GABRE	150874671	1.000000	0.71417	0.999000	0.59377	0.215000	0.24574	9.869000	0.99810	2.498000	0.84270	0.600000	0.82982	ACC		TCGA-IB-7651-01A-11D-2154-08	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	1	0	1	83	260	0	78	1	8.844140e-01	9	5	0	78	2		0	0	0	0	0	2	1	1	83	255	0	76	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRE	2564	broad.mit.edu	37	X	151129810	151129810	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151129810G>A	ENST00000370328.3	-	5	644	c.591C>T	c.(589-591)ctC>ctT	p.L197L	MIR452_ENST00000385020.1_RNA|MIR224_ENST00000384889.1_RNA|GABRE_ENST00000370325.1_Silent_p.L197L|GABRE_ENST00000393914.3_Intron	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon			27	Acute lymphoblastic leukemia(192;6.56e-05)			Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAGCATGTGGAGTGAGCATC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000370328.3	1	1	hg19	CCDS14703.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	1	0	1	55	366	0	123	0	1.779740e-02	0	2	0	123	2		0	0	0	0	0	2	1	1	53	358	0	123	2								-3.142752	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999967	0.990000	1	9.900000e-01	1
GABRQ	55879	broad.mit.edu	37	X	151818234	151818234	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151818234T>G	ENST00000370306.2	+	6	660	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta			52	Acute lymphoblastic leukemia(192;6.56e-05)			Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCATATTATTCTGGGATGA	0.433000																								0							SO:0001583	missense			ENST00000370306.2	1	1	hg19	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096594	0.36952	.	.	ENSG00000147402	ENST00000370306	T	0.78246	-1.16	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.280140	0.25786	N	0.028304	T	0.56187	0.1968	N	0.03917	-0.325	0.30477	N	0.77273	P	0.43231	0.801	B	0.37780	0.258	T	0.62718	-0.6795	10	0.42905	T	0.14	.	12.9114	0.58182	0.0:0.0:0.0:1.0	.	214	Q9UN88	GBRT_HUMAN	V	214	ENSP00000359329:F214V	ENSP00000359329:F214V	F	+	1	0	GABRQ	151568890	1.000000	0.71417	0.861000	0.33841	0.128000	0.20619	4.927000	0.63440	1.957000	0.56846	0.486000	0.48141	TTC		TCGA-IB-7651-01A-11D-2154-08	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	1	0	1	94	376	0	95	0	1.827419e-01	0	4	0	95	2		0	0	0	0	0	2	1	1	92	371	0	94	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEA3	4102	broad.mit.edu	37	X	151935444	151935444	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151935444A>C	ENST00000393902.3	-	3	1290	c.723T>G	c.(721-723)gaT>gaG	p.D241E	MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3			15	Acute lymphoblastic leukemia(192;6.56e-05)				GCTTCTTGGGATCCCCCAAGA	0.542000																								0							SO:0001583	missense			ENST00000393902.3	1	1	hg19	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.022220	0.00414	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.04551	3.6;3.6	1.42	-2.84	0.05751	.	0.209202	0.47852	N	0.000214	T	0.00784	0.0026	N	0.00329	-1.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	10	0.02654	T	1	.	2.0781	0.03628	0.41:0.2959:0.0:0.294	.	241	P43357	MAGA3_HUMAN	E	241	ENSP00000359301:D241E;ENSP00000377480:D241E	ENSP00000359301:D241E	D	-	3	2	MAGEA3	151686100	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.106000	0.03319	-0.868000	0.04058	-1.030000	0.02411	GAT		TCGA-IB-7651-01A-11D-2154-08	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	1	0	1	207	706	0	255		0	0	0	0	255	2		0	0	0	0	0	2	1	1	202	690	1	253	14								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CETN2	1069	broad.mit.edu	37	X	151996394	151996394	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151996394G>A	ENST00000370277.3	-	5	576	c.510C>T	c.(508-510)agC>agT	p.S170S	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2			7	Acute lymphoblastic leukemia(192;6.56e-05)				CTTAATAGAGGCTGGTCTTTT	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001819	synonymous_variant			ENST00000370277.3	1	1	hg19	CCDS14716.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	1	0	1	70	513	0	129	1	1	85	252	0	129	2		0	0	0	0	0	2	1	1	69	490	0	123	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999928	0.990000	1	9.900000e-01	1
NSDHL	50814	broad.mit.edu	37	X	152037363	152037363	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152037363C>A	ENST00000370274.3	+	8	1019	c.825C>A	c.(823-825)ttC>ttA	p.F275L	NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like			15	Acute lymphoblastic leukemia(192;6.56e-05)				CCATCCCTTTCTGGACATTCC	0.537000																								0							SO:0001583	missense			ENST00000370274.3	1	1	hg19	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612523	0.66672	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84516	-1.86;-1.86	4.4	2.61	0.31194	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	L	0.55103	1.725	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.85511	0.1197	10	0.44086	T	0.13	-3.6346	7.5523	0.27804	0.0:0.778:0.0:0.222	.	275	Q15738	NSDHL_HUMAN	L	275	ENSP00000359297:F275L;ENSP00000391854:F275L	ENSP00000359297:F275L	F	+	3	2	NSDHL	151788019	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.659000	0.46741	0.957000	0.37930	-0.245000	0.11935	TTC		TCGA-IB-7651-01A-11D-2154-08	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	0	0	1	339	1050	1	288	1	1	64	39	1	288	3		0	0	0	0	0	2	1	1	336	1028	1	284	17								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNMA5	114824	broad.mit.edu	37	X	152159032	152159032	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152159032C>T	ENST00000439251.1	-	2	1549	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T|PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5			25	Acute lymphoblastic leukemia(192;6.56e-05)				AAAGACCTTGCCTGCACGGTG	0.587000																								0							SO:0001583	missense			ENST00000439251.1	1	1	hg19	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361264	0.24684	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	3.13	-0.979	0.10276	.	.	.	.	.	T	0.04452	0.0122	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.46898	-0.9158	9	0.16420	T	0.52	-24.3667	3.8085	0.08788	0.0:0.3323:0.3985:0.2692	.	371	Q96PV4	PNMA5_HUMAN	T	371	ENSP00000354834:A371T;ENSP00000445775:A371T;ENSP00000388850:A371T;ENSP00000392342:A371T	ENSP00000354834:A371T	A	-	1	0	PNMA5	151909688	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	-0.928000	0.03980	-0.376000	0.07943	-0.880000	0.02959	GCA		TCGA-IB-7651-01A-11D-2154-08	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	1	0	1	110	337	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1	104	329	0	111	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASB9	140462	broad.mit.edu	37	X	15276992	15276992	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15276992C>A	ENST00000380488.4	-	2	443	c.170G>T	c.(169-171)aGc>aTc	p.S57I	ASB9_ENST00000546332.1_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9			15	Hepatocellular(33;0.183)				AGCTACCTGGCTGATGAGGTT	0.373000																								0							SO:0001583	missense			ENST00000380488.4	1	1	hg19	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111713	0.56398	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	-0.17;-0.16;-0.16;-0.16	5.84	2.18	0.27775	Ankyrin repeat-containing domain (3);	0.519060	0.24381	N	0.039004	T	0.70527	0.3234	M	0.67625	2.065	0.31781	N	0.630865	D;P;D;P	0.62365	0.991;0.847;0.979;0.954	P;P;P;P	0.60609	0.877;0.674;0.858;0.644	T	0.73043	-0.4107	10	0.87932	D	0	-4.8505	8.4539	0.32888	0.0:0.4907:0.0:0.5093	.	57;57;57;57	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	I	57	ENSP00000369850:S57I;ENSP00000369852:S57I;ENSP00000369855:S57I;ENSP00000438943:S57I	ENSP00000369850:S57I	S	-	2	0	ASB9	15186913	0.051000	0.20477	0.970000	0.41538	0.636000	0.38137	-0.574000	0.05868	0.003000	0.14656	-0.192000	0.12808	AGC		TCGA-IB-7651-01A-11D-2154-08	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1	1	0	1	75	239	0	105	0	9.206061e-01	0	16	0	105	2		0	0	0	0	0	2	1	1	75	236	0	103	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP2B3	492	broad.mit.edu	37	X	152811581	152811581	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152811581A>T	ENST00000349466.2	+	7	1278	c.952A>T	c.(952-954)Acc>Tcc	p.T318S	ATP2B3_ENST00000263519.4_Missense_Mutation_p.T318S|ATP2B3_ENST00000370181.2_Intron|ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000393842.1_Intron			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3			50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				GAGTAGCCAGACCAAAGGTAA	0.642000																								0							SO:0001583	missense			ENST00000349466.2	1	1	hg19	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945995	0.34377	.	.	ENSG00000067842	ENST00000349466;ENST00000359149;ENST00000263519	D;D;D	0.93247	-3.19;-3.19;-3.19	4.97	4.97	0.65823	ATPase, P-type, ATPase-associated domain (1);	1.660970	0.03744	N	0.255503	D	0.85630	0.5741	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60016	-0.7345	10	0.13470	T	0.59	-2.5058	12.7934	0.57547	1.0:0.0:0.0:0.0	.	318;318	Q16720;Q16720-2	AT2B3_HUMAN;.	S	318	ENSP00000343886:T318S;ENSP00000352062:T318S;ENSP00000263519:T318S	ENSP00000263519:T318S	T	+	1	0	ATP2B3	152464775	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.774000	0.91767	1.659000	0.50751	0.352000	0.21897	ACC		TCGA-IB-7651-01A-11D-2154-08	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	1	0	1	44	170	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	43	166	0	51	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PNCK	139728	broad.mit.edu	37	X	152937358	152937358	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152937358C>T	ENST00000370150.1	-	5	569	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.G131R|PNCK_ENST00000393831.2_Missense_Mutation_p.G131R|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R|PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase			6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				TGCACGATCCCCAGGCTGTGC	0.662000																								0							SO:0001583	missense			ENST00000370150.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	23.7	4.445474	0.84101	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101495	0.40554	N	0.001067	T	0.50735	0.1633	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.989;0.989;0.989	T	0.53251	-0.8465	10	0.72032	D	0.01	-29.6904	16.1385	0.81506	0.0:1.0:0.0:0.0	.	158;214;148;131	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	R	131;131;131;131;148;214;131;131	ENSP00000340586:G131R;ENSP00000359169:G131R;ENSP00000377417:G131R;ENSP00000359161:G131R;ENSP00000359164:G148R;ENSP00000405950:G214R;ENSP00000415770:G131R;ENSP00000391772:G131R	ENSP00000340586:G131R	G	-	1	0	PNCK	152590552	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.744000	0.85034	2.060000	0.61445	0.529000	0.55759	GGG		TCGA-IB-7651-01A-11D-2154-08	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	1	0	1	24	99	0	28	1	8.654542e-01	14	3	0	28	2		0	0	0	0	0	2	1	9.999998e-01	24	96	0	28	2								-16.532020	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
SLC6A8	6535	broad.mit.edu	37	X	152960076	152960076	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152960076G>A	ENST00000253122.5	+	11	2060	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	SLC6A8_ENST00000430077.2_Silent_p.P413P|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8			13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)			Creatine(DB00148)	TCTTCACCCCGCTGGTCTGCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000253122.5	1	1	hg19	CCDS14726.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1	1	0	0	74	218	0	64	1	1	279	59	0	64	2		0	0	0	0	0	2	1	1	71	203	0	61	2								-3.227006	1	1	121356	37	46	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASB11	140456	broad.mit.edu	37	X	15301646	15301646	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15301646C>T	ENST00000480796.1	-	7	1003	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	ASB11_ENST00000380470.3_Missense_Mutation_p.R301Q|ASB11_ENST00000537676.1_Missense_Mutation_p.R297Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase			16	Hepatocellular(33;0.183)				TAGGAGGAATCGTTCGAGTGG	0.498000																								0							SO:0001583	missense			ENST00000480796.1	1	1	hg19	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849570	0.17034	0.0	1.49E-4	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.72	1.12	0.20585	SOCS protein, C-terminal (3);	0.373056	0.25344	N	0.031341	T	0.24160	0.0585	N	0.21583	0.68	0.20873	N	0.999834	B;B;B	0.16802	0.011;0.005;0.019	B;B;B	0.15484	0.013;0.006;0.01	T	0.15150	-1.0447	10	0.27082	T	0.32	-7.9194	7.6607	0.28402	0.0:0.2848:0.0:0.7152	.	301;318;297	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	Q	297;301;297;318	ENSP00000445465:R297Q;ENSP00000369837:R301Q;ENSP00000343408:R297Q;ENSP00000417914:R318Q	ENSP00000343408:R297Q	R	-	2	0	ASB11	15211567	1.000000	0.71417	0.979000	0.43373	0.237000	0.25408	2.239000	0.43079	0.147000	0.19030	-0.296000	0.09543	CGA		TCGA-IB-7651-01A-11D-2154-08	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2	1	0	1	194	669	0	237		0	0	0	0	237	2		0	0	0	0	0	2	1	1	192	654	0	235	2								-4.691842	1	1	121408	1	40	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNB3	5365	broad.mit.edu	37	X	153032536	153032536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032536C>T	ENST00000361971.5	+	3	368	c.254C>T	c.(253-255)gCc>gTc	p.A85V	PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A108V|U52111.14_ENST00000416854.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3			32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				CAGCTCGAGGCCGTGGCTGTC	0.642000																								0							SO:0001583	missense			ENST00000361971.5	1	1	hg19	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	5.906	0.351217	0.11182	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04275	3.66;3.66	4.92	2.04	0.26737	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.943604	0.08769	N	0.896659	T	0.02610	0.0079	N	0.11313	0.125	0.09310	N	1	B;B	0.21688	0.059;0.007	B;B	0.28465	0.09;0.021	T	0.49818	-0.8899	10	0.19590	T	0.45	.	1.1318	0.01746	0.1506:0.3674:0.2593:0.2226	.	108;85	F5H773;Q9ULL4	.;PLXB3_HUMAN	V	108;85	ENSP00000442736:A108V;ENSP00000355378:A85V	ENSP00000355378:A85V	A	+	2	0	PLXNB3	152685730	0.000000	0.05858	0.036000	0.18154	0.099000	0.18886	-0.384000	0.07389	0.863000	0.35553	-0.296000	0.09543	GCC		TCGA-IB-7651-01A-11D-2154-08	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	1	48	153	0	57	0	4.442864e-01	0	6	0	57	2		0	0	0	0	0	2	1	1	48	147	0	57	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNB3	5365	broad.mit.edu	37	X	153032615	153032615	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032615G>T	ENST00000361971.5	+	3	447	c.333G>T	c.(331-333)caG>caT	p.Q111H	PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q134H|U52111.14_ENST00000416854.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3			32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				CACAGGCCCAGCTCACTGACA	0.697000																								0							SO:0001583	missense			ENST00000361971.5	1	1	hg19	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735469	0.15574	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04551	3.6;3.6	4.79	2.82	0.32997	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.549822	0.15044	N	0.283720	T	0.04679	0.0127	L	0.43152	1.355	0.24397	N	0.994723	B;B	0.21688	0.059;0.01	B;B	0.25506	0.061;0.034	T	0.28364	-1.0046	10	0.42905	T	0.14	.	3.9563	0.09391	0.0968:0.1546:0.5881:0.1605	.	134;111	F5H773;Q9ULL4	.;PLXB3_HUMAN	H	134;111	ENSP00000442736:Q134H;ENSP00000355378:Q111H	ENSP00000355378:Q111H	Q	+	3	2	PLXNB3	152685809	0.018000	0.18449	0.989000	0.46669	0.140000	0.21249	0.918000	0.28678	1.961000	0.56991	0.468000	0.43344	CAG		TCGA-IB-7651-01A-11D-2154-08	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	1	31	79	0	24	0	8.343869e-02	0	2	0	24	2		0	0	0	0	0	2	1	1	31	78	0	24	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNB3	5365	broad.mit.edu	37	X	153032912	153032912	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032912G>A	ENST00000361971.5	+	3	744	c.630G>A	c.(628-630)ggG>ggA	p.G210G	PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.G233G|U52111.14_ENST00000416854.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3			32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				AGCTGGCCGGGTCTCAGCCCT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000361971.5	1	1	hg19	CCDS14729.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	0	22	80	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	9.999993e-01	21	78	0	28	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999989	0.990000	1	9.900000e-01	1
PLXNB3	5365	broad.mit.edu	37	X	153037356	153037356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153037356C>T	ENST00000361971.5	+	15	2669	c.2555C>T	c.(2554-2556)gCc>gTc	p.A852V	PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A875V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3			32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				GGAGGCTTGGCCCTCACCATC	0.687000																								0							SO:0001583	missense			ENST00000361971.5	1	1	hg19	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	0.573	-0.840269	0.02692	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.96	3.16	0.36331	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.345193	0.28109	N	0.016566	T	0.54271	0.1848	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16802	0.002;0.019;0.002;0.002	B;B;B;B	0.18871	0.006;0.023;0.002;0.006	T	0.40079	-0.9582	10	0.27785	T	0.31	.	9.0453	0.36343	0.0:0.8066:0.0:0.1934	.	505;534;875;852	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	V	875;852;505;462	ENSP00000442736:A875V;ENSP00000355378:A852V;ENSP00000445569:A505V;ENSP00000441919:A462V	ENSP00000355378:A852V	A	+	2	0	PLXNB3	152690550	0.000000	0.05858	0.962000	0.40283	0.003000	0.03518	0.759000	0.26461	0.875000	0.35847	0.513000	0.50165	GCC		TCGA-IB-7651-01A-11D-2154-08	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	1	33	121	0	38	0	4.858729e-02	0	2	0	38	2		0	0	0	0	0	2	1	1	31	119	0	38	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNB3	5365	broad.mit.edu	37	X	153038807	153038807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153038807G>A	ENST00000361971.5	+	18	3143	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1033H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3			32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				AGCCCCTTCCGCTACACCGCC	0.692000																								0							SO:0001583	missense			ENST00000361971.5	1	1	hg19	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.286038	0.23478	0.0	1.49E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.94	-9.61	0.00550	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.850231	0.10782	N	0.634810	T	0.50154	0.1599	N	0.11000	0.08	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.002;0.003;0.004	T	0.33979	-0.9847	10	0.40728	T	0.16	.	7.8288	0.29330	0.2055:0.0935:0.6149:0.0861	.	663;1033;1010	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	1033;1010;663;620	ENSP00000442736:R1033H;ENSP00000355378:R1010H;ENSP00000445569:R663H;ENSP00000441919:R620H	ENSP00000355378:R1010H	R	+	2	0	PLXNB3	152692001	0.000000	0.05858	0.592000	0.28758	0.389000	0.30415	-0.818000	0.04467	-2.030000	0.00929	-0.422000	0.05995	CGC		TCGA-IB-7651-01A-11D-2154-08	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	1	20	86	0	22	1	3.312405e-01	3	3	0	22	2		0	0	0	0	0	2	1	9.999966e-01	20	82	0	21	2								-20.000000	1	1	120684	4	35	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999923	0.990000	1	9.900000e-01	1
IDH3G	3421	broad.mit.edu	37	X	153053284	153053284	+	Missense_Mutation	SNP	C	C	A	rs148318932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153053284C>A	ENST00000217901.5	-	7	730	c.534G>T	c.(532-534)gaG>gaT	p.E178D	IDH3G_ENST00000370092.3_Missense_Mutation_p.E178D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178D|IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma			17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				ACACCTCATGCTCCAGGCTGC	0.592000																								0							SO:0001583	missense			ENST00000217901.5	1	1	hg19	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127497	0.77549	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.68	5.59	2.44	0.29823	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.96080	3.765	0.54753	D	0.99998	D;D	0.89917	1.0;0.992	D;D	0.87578	0.998;0.983	T	0.79792	-0.1654	10	0.87932	D	0	.	9.0405	0.36314	0.0:0.6392:0.0:0.3608	.	178;178	E9PDD5;P51553	.;IDH3G_HUMAN	D	178;178;178;120;74;155;118	ENSP00000359110:E178D;ENSP00000217901:E178D;ENSP00000359111:E178D;ENSP00000408529:E120D;ENSP00000401862:E155D;ENSP00000402747:E118D	ENSP00000217901:E178D	E	-	3	2	IDH3G	152706478	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.725000	0.25970	0.545000	0.28902	0.529000	0.55759	GAG		TCGA-IB-7651-01A-11D-2154-08	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27	0	0	0	20	712	0	145	1	9.981016e-01	13	339	0	145	2		0	0	0	0	0	2	1	9.999939e-01	20	696	0	145	2								-15.667490	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.320000	0.200000	0.480000	0.320000	0.334337	0.320000	0	2.500000e-01	4.000000e-01
AVPR2	554	broad.mit.edu	37	X	153172136	153172136	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153172136C>A	ENST00000358927.2	+	4	1279	c.1070C>A	c.(1069-1071)tCc>tAc	p.S357Y	AVPR2_ENST00000337474.5_Missense_Mutation_p.S357Y|AVPR2_ENST00000370049.1_3'UTR|ARHGAP4_ENST00000467421.1_5'Flank			P30518	V2R_HUMAN	arginine vasopressin receptor 2			26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)			Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAAGATGAGTCCTGCACCACC	0.602000																								0							SO:0001583	missense			ENST00000358927.2	1	1	hg19	CCDS14735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.76|13.76	2.334503|2.334503	0.41297|0.41297	.|.	.|.	ENSG00000126895|ENSG00000126895	ENST00000430697|ENST00000358927;ENST00000337474	T|T;T	0.77489|0.76578	-1.1|-1.03;-1.03	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.370985	.|0.27986	.|N	.|0.017046	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.72894|0.72894	2.215|2.215	0.41268|0.41268	D|D	0.986824|0.986824	.|D	.|0.76494	.|0.999	.|D	.|0.65987	.|0.94	D|D	0.88426|0.88426	0.3032|0.3032	7|10	0.56958|0.87932	D|D	0.05|0	-8.3004|-8.3004	15.0865|15.0865	0.72158|0.72158	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|357	.|P30518	.|V2R_HUMAN	T|Y	328|357	ENSP00000393513:P328T|ENSP00000351805:S357Y;ENSP00000338072:S357Y	ENSP00000393513:P328T|ENSP00000338072:S357Y	P|S	+|+	1|2	0|0	AVPR2|AVPR2	152825330|152825330	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.240000|0.240000	0.25518|0.25518	6.638000|6.638000	0.74309|0.74309	1.880000|1.880000	0.54463|0.54463	0.418000|0.418000	0.28097|0.28097	CCT|TCC		TCGA-IB-7651-01A-11D-2154-08	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2	1	0	0	98	247	0	83	0	1.984987e-01	0	3	0	83	2		0	0	0	0	0	2	1	1	98	240	0	81	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RENBP	5973	broad.mit.edu	37	X	153208501	153208501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153208501C>T	ENST00000393700.3	-	6	573	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000412763.1_Missense_Mutation_p.V165I|RENBP_ENST00000462086.1_5'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein			20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)			N-Acetyl-D-glucosamine(DB00141)	ACCCAGTGGACGATCTGATCC	0.687000																								0							SO:0001583	missense			ENST00000393700.3	1	1	hg19	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	0.572	-0.840675	0.02692	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.29397	1.57;1.57;1.57	3.92	-1.74	0.08056	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.663319	0.14678	N	0.304911	T	0.16471	0.0396	N	0.20401	0.57	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.11329	0.004;0.006	T	0.24261	-1.0165	10	0.23891	T	0.37	-12.8598	9.9145	0.41425	0.0:0.4931:0.0:0.5069	.	165;165	P51606-2;P51606	.;RENBP_HUMAN	I	165;165;151	ENSP00000377303:V165I;ENSP00000387811:V165I;ENSP00000359014:V151I	ENSP00000359014:V151I	V	-	1	0	RENBP	152861695	0.000000	0.05858	0.506000	0.27664	0.123000	0.20343	0.222000	0.17699	-0.396000	0.07703	0.183000	0.17082	GTC		TCGA-IB-7651-01A-11D-2154-08	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	1	0	0	48	156	0	35	0	9.999958e-01	0	65	0	35	2		0	0	0	0	0	2	1	1	46	154	0	34	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HCFC1	3054	broad.mit.edu	37	X	153219959	153219959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153219959G>A	ENST00000310441.7	-	17	4857	c.3891C>T	c.(3889-3891)caC>caT	p.H1297H	HCFC1_ENST00000354233.3_Silent_p.H1228H|HCFC1_ENST00000369984.4_Silent_p.H1297H	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1			47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				TGCCTGTCTCGTGGGTCTCAC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000310441.7	1	1	hg19	CCDS44020.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	1	0	1	233	789	0	166	1	1	36	57	0	166	2		0	0	0	0	0	2	1	1	230	774	0	164	2								-20.000000	1	1	121206	3	36	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HCFC1	3054	broad.mit.edu	37	X	153221812	153221812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153221812C>T	ENST00000310441.7	-	16	3652	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R|HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1			47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CCCCCCGCCCCGGCAAGGCTG	0.632000																								0							SO:0001583	missense			ENST00000310441.7	1	1	hg19	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944006	0.73672	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03831	3.91;3.97;3.79	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	L	0.27053	0.805	0.53005	D	0.999962	D	0.89917	1.0	D	0.69307	0.963	T	0.04607	-1.0939	10	0.72032	D	0.01	.	16.8335	0.85951	0.0:1.0:0.0:0.0	.	896	P51610	HCFC1_HUMAN	R	896;896;827	ENSP00000309555:G896R;ENSP00000359001:G896R;ENSP00000346174:G827R	ENSP00000309555:G896R	G	-	1	0	HCFC1	152875006	1.000000	0.71417	0.651000	0.29564	0.119000	0.20118	7.373000	0.79623	2.236000	0.73375	0.529000	0.55759	GGG		TCGA-IB-7651-01A-11D-2154-08	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	1	0	1	127	469	0	137	1	9.999997e-01	44	36	0	137	2		0	0	0	0	0	2	1	1	125	458	0	135	2								-3.312969	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HCFC1	3054	broad.mit.edu	37	X	153223480	153223480	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153223480G>A	ENST00000310441.7	-	11	2990	c.2024C>T	c.(2023-2025)gCt>gTt	p.A675V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.A675V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1			47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				ACTCACCAGAGCACTGCCTCC	0.642000																								0							SO:0001583	missense			ENST00000310441.7	1	1	hg19	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635243	0.87760	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03242	4.02;4.0;4.0	5.43	5.43	0.79202	.	0.062535	0.64402	D	0.000003	T	0.03390	0.0098	N	0.19112	0.55	0.37493	D	0.916457	B	0.34103	0.437	B	0.30401	0.115	T	0.59220	-0.7495	10	0.23891	T	0.37	.	16.9627	0.86277	0.0:0.0:1.0:0.0	.	675	P51610	HCFC1_HUMAN	V	675;675;606	ENSP00000309555:A675V;ENSP00000359001:A675V;ENSP00000346174:A606V	ENSP00000309555:A675V	A	-	2	0	HCFC1	152876674	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.272000	0.95707	2.268000	0.75426	0.544000	0.68410	GCT		TCGA-IB-7651-01A-11D-2154-08	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	1	0	1	45	157	0	58	1	9.999760e-01	27	33	0	58	2		0	0	0	0	0	2	1	1	43	154	0	55	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM187	8269	broad.mit.edu	37	X	153247784	153247784	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153247784G>A	ENST00000369982.4	+	2	1018	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187			5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CGTGTTCGCAGCCATGGCCCT	0.682000																								0							SO:0001583	missense			ENST00000369982.4	1	1	hg19	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	6.785	0.513782	0.12944	.	.	ENSG00000177854	ENST00000369982	T	0.23147	1.92	4.27	-1.51	0.08664	.	1.777300	0.04247	U	0.337950	T	0.18467	0.0443	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.17745	-1.0359	10	0.27785	T	0.31	.	0.6656	0.00850	0.4055:0.1278:0.2049:0.2618	.	91	Q14656	TM187_HUMAN	T	91	ENSP00000358999:A91T	ENSP00000358999:A91T	A	+	1	0	TMEM187	152900978	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.160000	0.10041	-0.605000	0.05753	0.436000	0.28706	GCC		TCGA-IB-7651-01A-11D-2154-08	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	1	0	1	43	125	0	40	1	9.986627e-01	18	15	0	40	2		0	0	0	0	0	2	1	1	43	123	0	40	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM187	8269	broad.mit.edu	37	X	153248033	153248033	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153248033G>A	ENST00000369982.4	+	2	1267	c.520G>A	c.(520-522)Gct>Act	p.A174T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187			5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CGTGGTGGCCGCTGTGGGGCA	0.637000																								0							SO:0001583	missense			ENST00000369982.4	1	1	hg19	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215736	0.39102	0.0	2.97E-4	ENSG00000177854	ENST00000369982	T	0.29917	1.55	4.65	0.902	0.19290	.	0.311733	0.18440	N	0.141173	T	0.20740	0.0499	L	0.50919	1.6	0.09310	N	1	P	0.39964	0.697	B	0.27170	0.077	T	0.06899	-1.0801	10	0.59425	D	0.04	.	8.624	0.33877	0.3436:0.0:0.6564:0.0	.	174	Q14656	TM187_HUMAN	T	174	ENSP00000358999:A174T	ENSP00000358999:A174T	A	+	1	0	TMEM187	152901227	0.519000	0.26242	0.000000	0.03702	0.017000	0.09413	3.037000	0.49775	-0.247000	0.09597	-0.422000	0.05995	GCT		TCGA-IB-7651-01A-11D-2154-08	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	1	0	1	39	139	0	33	1	9.997970e-01	23	27	0	33	2		0	0	0	0	0	2	1	1	39	136	0	33	2								-20.000000	1	1	121402	3	31	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNA	2316	broad.mit.edu	37	X	153580292	153580292	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153580292C>A	ENST00000369850.3	-	42	7103	c.6867G>T	c.(6865-6867)aaG>aaT	p.K2289N	FLNA_ENST00000369856.3_Missense_Mutation_p.K422N|FLNA_ENST00000422373.1_Missense_Mutation_p.K2281N|FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				AGGAGCCGTCCTTGCGGTCCT	0.622000																								0							SO:0001583	missense			ENST00000369850.3	1	1	hg19	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998200	0.35226	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.19	4.33	0.51752	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94964	0.8371	M	0.82056	2.57	0.51233	D	0.999918	D;P;P;P	0.62365	0.991;0.95;0.797;0.797	D;P;P;P	0.64042	0.921;0.481;0.476;0.476	D	0.94464	0.7679	10	0.72032	D	0.01	.	9.884	0.41251	0.0:0.7734:0.0:0.2266	.	422;2281;2289;2289	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	N	2281;1957;2281;2289;422;2249;229	ENSP00000353467:K2281N;ENSP00000416926:K2281N;ENSP00000358866:K2289N;ENSP00000358872:K422N;ENSP00000358863:K2249N;ENSP00000397824:K229N	ENSP00000358863:K2249N	K	-	3	2	FLNA	153233486	0.900000	0.30661	1.000000	0.80357	0.414000	0.31173	0.006000	0.13152	0.992000	0.38840	-0.297000	0.09499	AAG		TCGA-IB-7651-01A-11D-2154-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1	76	247	0	66	1	1	410	1208	0	66	2		0	0	0	0	0	2	1	1	74	242	0	66	2								-4.583930	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNA	2316	broad.mit.edu	37	X	153588685	153588685	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153588685C>A	ENST00000369850.3	-	22	3714	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.A1160S|FLNA_ENST00000344736.4_Missense_Mutation_p.A1160S|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				ACTTTGGATGCGTCAAAGCAG	0.652000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001583	missense			ENST00000369850.3	1	1	hg19	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624820	0.14193	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.92	3.08	0.35506	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.066241	0.64402	D	0.000014	D	0.88577	0.6474	M	0.72894	2.215	0.20307	N	0.999911	B;B	0.33826	0.427;0.002	B;B	0.43155	0.41;0.018	T	0.80865	-0.1191	10	0.39692	T	0.17	.	14.6502	0.68792	0.0:0.4961:0.5039:0.0	.	1160;1160	P21333-2;P21333	.;FLNA_HUMAN	S	1160;1133;1160;1160;1160	ENSP00000353467:A1160S;ENSP00000416926:A1160S;ENSP00000358866:A1160S;ENSP00000358863:A1160S	ENSP00000358863:A1160S	A	-	1	0	FLNA	153241879	0.015000	0.18098	0.046000	0.18839	0.301000	0.27625	0.391000	0.20784	0.871000	0.35750	0.525000	0.51046	GCA		TCGA-IB-7651-01A-11D-2154-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1	74	243	0	91	1	1	193	660	0	91	2		0	0	0	0	0	2	1	1	71	240	0	90	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNA	2316	broad.mit.edu	37	X	153590625	153590625	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153590625C>T	ENST00000369850.3	-	18	2877	c.2641G>A	c.(2641-2643)Ggc>Agc	p.G881S	FLNA_ENST00000422373.1_Missense_Mutation_p.G881S|FLNA_ENST00000344736.4_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CGACTGAGGCCAGGGCCCTCG	0.662000																								0							SO:0001583	missense			ENST00000369850.3	1	1	hg19	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781649	0.90282	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.97256	0.9103	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98623	1.0668	10	0.87932	D	0	.	17.5374	0.87835	0.0:1.0:0.0:0.0	.	881;881	P21333-2;P21333	.;FLNA_HUMAN	S	881;854;881;881;881	ENSP00000353467:G881S;ENSP00000416926:G881S;ENSP00000358866:G881S;ENSP00000358863:G881S	ENSP00000358863:G881S	G	-	1	0	FLNA	153243819	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.715000	0.84713	2.156000	0.67533	0.529000	0.55759	GGC		TCGA-IB-7651-01A-11D-2154-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1	111	385	0	125	1	1	260	725	0	125	2		0	0	0	0	0	2	1	1	109	379	0	124	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FLNA	2316	broad.mit.edu	37	X	153592400	153592400	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592400C>T	ENST00000369850.3	-	15	2506	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	FLNA_ENST00000422373.1_Missense_Mutation_p.S757N|FLNA_ENST00000344736.4_Missense_Mutation_p.S757N|FLNA_ENST00000360319.4_Missense_Mutation_p.S757N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CCTGAAGGGGCTGTTGGGGAT	0.572000																								0							SO:0001583	missense			ENST00000369850.3	1	1	hg19	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839016	0.91117	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.95	4.95	0.65309	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97453	1.0029	10	0.87932	D	0	.	17.4666	0.87634	0.0:1.0:0.0:0.0	.	757;757	P21333-2;P21333	.;FLNA_HUMAN	N	757;730;757;757;757	ENSP00000353467:S757N;ENSP00000416926:S757N;ENSP00000358866:S757N;ENSP00000358863:S757N	ENSP00000358863:S757N	S	-	2	0	FLNA	153245594	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.815000	0.86186	2.049000	0.60858	0.525000	0.51046	AGC		TCGA-IB-7651-01A-11D-2154-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	0	36	769	0	173	1	1	46	670	0	173	2		0	0	0	0	0	2	1	1	35	754	0	172	2								-3.314363	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.520000	0.370000	0.700000	0.520000	0.536121	0.520000	0	4.400000e-01	6.200000e-01
FLNA	2316	broad.mit.edu	37	X	153592426	153592426	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592426G>T	ENST00000369850.3	-	15	2480	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	FLNA_ENST00000422373.1_Silent_p.S748S|FLNA_ENST00000344736.4_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CGCCTCCCCAGGACACCATGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000369850.3	1	1	hg19	CCDS48194.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1	147	558	0	162	1	1	172	691	0	162	2		0	0	0	0	0	2	1	1	144	546	0	160	2								-3.636981	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RPL10	6134	broad.mit.edu	37	X	153627922	153627922	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153627922G>A	ENST00000369817.2	+	5	753	c.177G>A	c.(175-177)caG>caA	p.Q59Q	RPL10_ENST00000406022.2_Silent_p.Q8Q|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000424325.2_Silent_p.Q59Q			P27635	RL10_HUMAN	ribosomal protein L10			8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				AATATGAGCAGCTGTCCTCTG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000369817.2	1	1	hg19	CCDS14746.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	1	0	1	122	365	0	112	1	1	3059	4216	0	112	2		0	0	0	0	0	2	1	1	119	359	0	112	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP6AP1	537	broad.mit.edu	37	X	153663798	153663798	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153663798C>A	ENST00000369762.2	+	9	1211	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1			14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				GGGTAGTCTCCTCGTGGCCCG	0.622000																								0							SO:0001583	missense			ENST00000369762.2	1	1	hg19	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195889	0.78902	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.69	4.81	0.61882	.	0.059264	0.64402	D	0.000001	T	0.79393	0.4438	M	0.82823	2.61	0.42872	D	0.994145	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81165	-0.1057	9	0.52906	T	0.07	-16.6749	12.5541	0.56244	0.1672:0.8328:0.0:0.0	.	344;384	B3KR70;Q15904	.;VAS1_HUMAN	I	384;208	.	ENSP00000358777:L384I	L	+	1	0	ATP6AP1	153316992	1.000000	0.71417	0.880000	0.34516	0.390000	0.30446	5.372000	0.66156	1.118000	0.41863	0.596000	0.82720	CTC		TCGA-IB-7651-01A-11D-2154-08	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	1	0	1	61	204	0	87	1	1	333	609	0	87	2		0	0	0	0	0	2	1	1	61	201	0	85	2								-4.129279	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GDI1	2664	broad.mit.edu	37	X	153668321	153668321	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153668321G>A	ENST00000447750.2	+	5	757	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1			16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CGGCGCTTCCGCAAGTTCCTG	0.552000																								0							SO:0001583	missense			ENST00000447750.2	1	0	hg19	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179100	0.94846	.	.	ENSG00000203879	ENST00000447750	T	0.59638	0.25	4.92	4.92	0.64577	.	0.054305	0.64402	D	0.000001	T	0.73806	0.3634	M	0.82517	2.595	0.80722	D	1	D;B	0.64830	0.994;0.25	P;B	0.59056	0.851;0.02	T	0.78214	-0.2291	10	0.59425	D	0.04	-24.8804	14.3722	0.66849	0.0:0.0:1.0:0.0	.	141;141	B4DH24;P31150	.;GDIA_HUMAN	H	141	ENSP00000394071:R141H	ENSP00000394071:R141H	R	+	2	0	GDI1	153321515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.595000	0.98260	2.265000	0.75225	0.600000	0.82982	CGC		TCGA-IB-7651-01A-11D-2154-08	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	0	0	1	479	1524	2	468	1	1	202	222	2	468	7		0	0	0	0	0	2	1	1	472	1507	2	463	22								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA3	55558	broad.mit.edu	37	X	153692584	153692584	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153692584C>A	ENST00000369682.3	+	8	1931	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3			48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CGAGGCGGTCCTGCTGCCCTC	0.687000																								0							SO:0001583	missense			ENST00000369682.3	1	1	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302047	0.23736	.	.	ENSG00000130827	ENST00000369682	T	0.00995	5.46	5.51	5.51	0.81932	.	0.581307	0.18180	N	0.149177	T	0.01940	0.0061	L	0.53249	1.67	0.31420	N	0.674375	B	0.33212	0.402	B	0.40199	0.322	T	0.23547	-1.0185	10	0.34782	T	0.22	.	12.8614	0.57915	0.0:0.8401:0.1599:0.0	.	586	P51805	PLXA3_HUMAN	M	586	ENSP00000358696:L586M	ENSP00000358696:L586M	L	+	1	2	PLXNA3	153345778	0.000000	0.05858	0.998000	0.56505	0.157000	0.22087	0.001000	0.13038	2.295000	0.77249	0.597000	0.82753	CTG		TCGA-IB-7651-01A-11D-2154-08	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	0	0	1	28	96	0	23	1	9.601982e-01	9	12	0	23	2		0	0	0	0	0	2	1	1	27	94	0	23	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PLXNA3	55558	broad.mit.edu	37	X	153694277	153694277	+	Splice_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153694277G>A	ENST00000369682.3	+	14	2707		c.e14-1			NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3			48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CTGCTCCACAGATCCACCCTC	0.677000																								0							SO:0001630	splice_region_variant			ENST00000369682.3	1	1	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771244	0.31320	.	.	ENSG00000130827	ENST00000369682	.	.	.	5.17	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8804	0.52571	0.0888:0.0:0.9112:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNA3	153347471	1.000000	0.71417	0.978000	0.43139	0.377000	0.30045	6.242000	0.72376	0.956000	0.37904	0.600000	0.82982	.		TCGA-IB-7651-01A-11D-2154-08	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	1	0	1	63	230	0	57	1	8.023491e-01	13	0	0	57	2		0	0	0	0	0	2	1	1	62	226	0	57	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA3	55558	broad.mit.edu	37	X	153695925	153695925	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153695925G>A	ENST00000369682.3	+	20	3654	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3			48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				GGCAGCTCCCGCCTCAACTAC	0.657000																								0							SO:0001583	missense			ENST00000369682.3	1	1	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925410	0.73213	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.76968	-1.06	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.80616	2.505	0.53005	D	0.999965	D	0.89917	1.0	D	0.70016	0.967	D	0.88123	0.2833	10	0.87932	D	0	.	10.7533	0.46221	0.0914:0.0:0.9086:0.0	.	1160	P51805	PLXA3_HUMAN	H	1160	ENSP00000358696:R1160H	ENSP00000358696:R1160H	R	+	2	0	PLXNA3	153349119	0.992000	0.36948	1.000000	0.80357	0.735000	0.41995	4.693000	0.61753	2.385000	0.81259	0.529000	0.55759	CGC		TCGA-IB-7651-01A-11D-2154-08	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	1	0	0	12	48	0	22	1	9.642734e-01	6	20	0	22	2		0	0	0	0	0	2	1	9.993876e-01	12	47	0	22	2								-19.999190	1	1	119784	12	32	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999148	0.990000	1	9.900000e-01	1
PLXNA3	55558	broad.mit.edu	37	X	153697552	153697552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153697552G>A	ENST00000369682.3	+	26	4763	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3			48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				TGAGGACATGGACCTGGGTGA	0.602000																								0							SO:0001583	missense			ENST00000369682.3	1	1	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722944	0.89298	.	.	ENSG00000130827	ENST00000369682	T	0.13901	2.55	5.35	4.48	0.54585	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.111765	0.64402	D	0.000016	T	0.44973	0.1319	M	0.91717	3.235	0.80722	D	1	D	0.64830	0.994	D	0.70935	0.971	T	0.56715	-0.7933	10	0.87932	D	0	.	13.9752	0.64268	0.0:0.1493:0.8507:0.0	.	1530	P51805	PLXA3_HUMAN	N	1530	ENSP00000358696:D1530N	ENSP00000358696:D1530N	D	+	1	0	PLXNA3	153350746	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.857000	0.99534	1.005000	0.39183	0.597000	0.82753	GAC		TCGA-IB-7651-01A-11D-2154-08	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	1	0	1	70	268	0	104	1	9.998378e-01	20	32	0	104	2		0	0	0	0	0	2	1	1	70	259	0	101	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLXNA3	55558	broad.mit.edu	37	X	153698803	153698803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698803G>A	ENST00000369682.3	+	30	5180	c.5005G>A	c.(5005-5007)Gtg>Atg	p.V1669M	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3			48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				GCAGAAGTTCGTGGATGACCT	0.607000																								0							SO:0001583	missense			ENST00000369682.3	1	1	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780325	0.90195	.	.	ENSG00000130827	ENST00000369682	T	0.18174	2.23	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.58289	-0.7662	10	0.87932	D	0	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	1669	P51805	PLXA3_HUMAN	M	1669	ENSP00000358696:V1669M	ENSP00000358696:V1669M	V	+	1	0	PLXNA3	153351997	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	9.860000	0.99555	2.072000	0.62099	0.529000	0.55759	GTG		TCGA-IB-7651-01A-11D-2154-08	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	1	0	1	52	414	0	95	1	9.729210e-01	11	37	0	95	2		0	0	0	0	0	2	1	1	52	405	0	95	2								-18.683160	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.998761	0.990000	1	9.900000e-01	1
PLXNA3	55558	broad.mit.edu	37	X	153698908	153698908	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698908C>T	ENST00000369682.3	+	30	5285	c.5110C>T	c.(5110-5112)Cgc>Tgc	p.R1704C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3			48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				GGCGGACCAGCGCCAGATCAG	0.632000																								0							SO:0001583	missense			ENST00000369682.3	1	1	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911170	0.72983	.	.	ENSG00000130827	ENST00000369682	T	0.13089	2.62	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.129791	0.50627	D	0.000109	T	0.25975	0.0633	L	0.48642	1.525	0.54753	D	0.999988	D	0.65815	0.995	P	0.62382	0.901	T	0.00824	-1.1551	10	0.87932	D	0	.	10.4064	0.44260	0.3212:0.6788:0.0:0.0	.	1704	P51805	PLXA3_HUMAN	C	1704	ENSP00000358696:R1704C	ENSP00000358696:R1704C	R	+	1	0	PLXNA3	153352102	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	2.293000	0.43558	2.156000	0.67533	0.529000	0.55759	CGC		TCGA-IB-7651-01A-11D-2154-08	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	0	0	1	118	524	0	114	1	9.991055e-01	19	29	0	114	2		0	0	0	0	0	2	1	1	117	516	0	113	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC10A3	8273	broad.mit.edu	37	X	153716401	153716401	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716401C>A	ENST00000393587.4	-	3	1142	c.879G>T	c.(877-879)gtG>gtT	p.V293V	SLC10A3_ENST00000263512.4_Silent_p.V293V|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.V348V|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.V264V|UBL4A_ENST00000369653.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3			15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CAGTGGCAGCCACCGTAGAGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000393587.4	1	1	hg19	CCDS14755.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	1	0	1	121	372	0	112	1	1	92	78	0	112	2		0	0	0	0	0	2	1	1	116	362	0	107	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC10A3	8273	broad.mit.edu	37	X	153716810	153716810	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716810G>T	ENST00000393587.4	-	3	733	c.470C>A	c.(469-471)cCc>cAc	p.P157H	SLC10A3_ENST00000263512.4_Missense_Mutation_p.P157H|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P212H|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|UBL4A_ENST00000369653.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3			15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				AATCAGTGTGGGCGGGGCCTC	0.647000																								0							SO:0001583	missense			ENST00000393587.4	1	1	hg19	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272864	0.23221	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.10005	3.08;2.92;2.97;2.97	4.83	4.83	0.62350	.	0.075236	0.53938	U	0.000052	T	0.32526	0.0832	M	0.73598	2.24	0.46901	D	0.999249	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03840	-1.0999	10	0.59425	D	0.04	-11.0926	13.8157	0.63290	0.0:0.0:1.0:0.0	.	128;157	Q9BSL2;P09131	.;P3_HUMAN	H	128;212;157;157;157	ENSP00000358663:P128H;ENSP00000377211:P212H;ENSP00000263512:P157H;ENSP00000377212:P157H	ENSP00000263512:P157H	P	-	2	0	SLC10A3	153370004	1.000000	0.71417	0.151000	0.22473	0.029000	0.11900	3.852000	0.55934	2.229000	0.72834	0.600000	0.82982	CCC		TCGA-IB-7651-01A-11D-2154-08	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	1	0	1	157	490	0	132	1	1	75	78	0	132	2		0	0	0	0	0	2	1	1	157	477	0	130	2								-5.755916	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GAB3	139716	broad.mit.edu	37	X	153927748	153927748	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153927748C>T	ENST00000369575.3	-	6	1194	c.1163G>A	c.(1162-1164)aGt>aAt	p.S388N	GAB3_ENST00000424127.2_Missense_Mutation_p.S389N|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3			25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				GTCTTCGATACTGGCTGAAGC	0.532000																								0							SO:0001583	missense			ENST00000369575.3	1	1	hg19	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518775	0.13005	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.26957	1.7;1.7;1.7	5.85	4.09	0.47781	.	0.454231	0.28284	N	0.015909	T	0.18964	0.0455	L	0.47716	1.5	0.09310	N	1	P;B;P	0.42871	0.792;0.056;0.682	B;B;B	0.40329	0.326;0.047;0.326	T	0.13202	-1.0518	10	0.02654	T	1	-1.7537	9.8274	0.40921	0.0:0.8291:0.0:0.1709	.	389;389;388	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	N	388;389;389	ENSP00000358588:S388N;ENSP00000358581:S389N;ENSP00000399588:S389N	ENSP00000358581:S389N	S	-	2	0	GAB3	153580942	0.057000	0.20700	0.003000	0.11579	0.152000	0.21847	1.057000	0.30492	0.623000	0.30267	0.529000	0.55759	AGT		TCGA-IB-7651-01A-11D-2154-08	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	1	0	1	74	306	0	79	0	7.875550e-01	0	14	0	79	2		0	0	0	0	0	2	1	1	72	300	0	77	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PIR	8544	broad.mit.edu	37	X	15403175	15403175	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15403175T>G	ENST00000380421.3	-	10	1284	c.824A>C	c.(823-825)aAa>aCa	p.K275T	PIR_ENST00000380420.5_Missense_Mutation_p.K275T|FIGF_ENST00000297904.3_5'Flank	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)			9	Hepatocellular(33;0.183)				AAACCCATTTTTTGCGTTTCT	0.418000													Ovarian(180;1587 2015 10555 34192 51653)											0							SO:0001583	missense			ENST00000380421.3	1	1	hg19	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	T	7.107	0.575318	0.13623	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.44881	0.91;0.91	5.28	4.09	0.47781	Cupin, RmlC-type (1);Pirin, C-terminal (1);	0.302120	0.37178	N	0.002203	T	0.22205	0.0535	N	0.13140	0.3	0.29606	N	0.847304	B	0.15141	0.012	B	0.21151	0.033	T	0.07443	-1.0772	10	0.27082	T	0.32	-0.8345	5.3461	0.16010	0.0:0.0995:0.1951:0.7054	.	275	O00625	PIR_HUMAN	T	275	ENSP00000369785:K275T;ENSP00000369786:K275T	ENSP00000369785:K275T	K	-	2	0	PIR	15313096	0.943000	0.32029	0.989000	0.46669	0.372000	0.29890	0.392000	0.20801	1.871000	0.54225	0.430000	0.28490	AAA		TCGA-IB-7651-01A-11D-2154-08	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	1	0	1	20	358	0	101	1	9.543273e-01	16	78	0	101	2		0	0	0	0	0	2	1	9.999946e-01	20	350	0	100	2								-19.997230	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.620000	0.390000	0.910000	0.620000	0.641191	0.620000	0	5.000000e-01	7.700000e-01
F8	2157	broad.mit.edu	37	X	154156894	154156894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154156894C>T	ENST00000360256.4	-	14	5371	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component			120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)			Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCCAGAGCCTCTCCACTGC	0.408000																								0							SO:0001583	missense			ENST00000360256.4	1	1	hg19	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	3.065	-0.192479	0.06259	.	.	ENSG00000185010	ENST00000360256	D	0.98717	-5.09	5.15	1.49	0.22878	Cupredoxin (2);	0.683124	0.14244	N	0.331866	D	0.90906	0.7142	N	0.03608	-0.345	0.19300	N	0.999977	B	0.10296	0.003	B	0.08055	0.003	D	0.84554	0.0646	10	0.02654	T	1	-1.5746	2.4056	0.04412	0.2282:0.379:0.0:0.3927	.	1724	P00451	FA8_HUMAN	K	1724	ENSP00000353393:R1724K	ENSP00000353393:R1724K	R	-	2	0	F8	153810088	0.466000	0.25823	0.990000	0.47175	0.961000	0.63080	-0.051000	0.11885	0.330000	0.23485	0.538000	0.68166	AGG		TCGA-IB-7651-01A-11D-2154-08	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4	1	0	1	46	145	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1	45	141	0	42	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLIC2	1193	broad.mit.edu	37	X	154507346	154507346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154507346G>A	ENST00000369449.2	-	6	808	c.590C>T	c.(589-591)gCc>gTc	p.A197V	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2			18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				ATATTTCTTGGCAGCAACCTA	0.398000													Melanoma(108;581 1592 2289 21669 28822)											0							SO:0001583	missense			ENST00000369449.2	1	1	hg19	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.178450	0.78564	.	.	ENSG00000155962	ENST00000369449	D	0.93906	-3.31	5.19	4.32	0.51571	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.055211	0.64402	D	0.000001	D	0.94238	0.8150	M	0.75085	2.285	0.45733	D	0.998634	D	0.65815	0.995	P	0.56514	0.8	D	0.92781	0.6240	10	0.48119	T	0.1	-9.8228	6.8635	0.24079	0.0978:0.1731:0.7291:0.0	.	197	O15247	CLIC2_HUMAN	V	197	ENSP00000358460:A197V	ENSP00000358460:A197V	A	-	2	0	CLIC2	154160540	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	4.799000	0.62517	1.115000	0.41800	-0.268000	0.10319	GCC		TCGA-IB-7651-01A-11D-2154-08	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	1	0	1	92	298	0	85	0	9.999991e-01	0	68	0	85	2		0	0	0	0	0	2	1	1	92	293	0	85	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMX	660	broad.mit.edu	37	X	15552432	15552432	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15552432C>A	ENST00000357607.2	+	12	1305	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	BMX_ENST00000342014.6_Missense_Mutation_p.L373I|BMX_ENST00000348343.6_Missense_Mutation_p.L373I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase			30	Hepatocellular(33;0.183)				CATTCCAAAGCTTATTCATTA	0.338000																								0							SO:0001583	missense			ENST00000357607.2	1	1	hg19	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338533	0.60963	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.58940	0.3;0.3;0.3	5.07	5.07	0.68467	SH2 motif (5);	0.000000	0.52532	D	0.000075	T	0.73048	0.3537	M	0.75884	2.315	0.43014	D	0.994558	D	0.76494	0.999	D	0.87578	0.998	T	0.73908	-0.3834	10	0.40728	T	0.16	.	11.31	0.49358	0.1819:0.8181:0.0:0.0	.	373	P51813	BMX_HUMAN	I	373	ENSP00000350224:L373I;ENSP00000308774:L373I;ENSP00000340082:L373I	ENSP00000340082:L373I	L	+	1	0	BMX	15462353	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.803000	0.47924	2.083000	0.62718	0.600000	0.82982	CTT		TCGA-IB-7651-01A-11D-2154-08	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	1	0	1	125	410	0	128	0	1.393875e-01	1	2	0	128	2		0	0	0	0	0	2	1	1	123	406	0	125	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BMX	660	broad.mit.edu	37	X	15568034	15568034	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15568034C>A	ENST00000357607.2	+	18	2055	c.1867C>A	c.(1867-1869)Ctg>Atg	p.L623M	BMX_ENST00000342014.6_Missense_Mutation_p.L623M|BMX_ENST00000348343.6_Missense_Mutation_p.L623M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase			30	Hepatocellular(33;0.183)				CCAGGTGGTTCTGAAGGTCTC	0.572000																								0							SO:0001583	missense			ENST00000357607.2	1	1	hg19	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644307	0.47258	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82803	-1.65;-1.65;-1.65	5.68	1.82	0.25136	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.586451	0.16020	N	0.233329	T	0.70605	0.3243	N	0.17474	0.49	0.23636	N	0.997231	B	0.22541	0.071	B	0.31191	0.125	T	0.62353	-0.6872	10	0.72032	D	0.01	.	7.5313	0.27685	0.151:0.2529:0.5962:0.0	.	623	P51813	BMX_HUMAN	M	623	ENSP00000350224:L623M;ENSP00000308774:L623M;ENSP00000340082:L623M	ENSP00000340082:L623M	L	+	1	2	BMX	15477955	0.998000	0.40836	0.476000	0.27291	0.976000	0.68499	2.077000	0.41557	0.172000	0.19760	-0.223000	0.12442	CTG		TCGA-IB-7651-01A-11D-2154-08	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	1	0	1	160	602	0	188	1	5.268744e-01	3	5	0	188	2		0	0	0	0	0	2	1	1	159	590	0	185	2								-3.849073	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZRSR2	8233	broad.mit.edu	37	X	15827333	15827333	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15827333G>A	ENST00000307771.7	+	7	473	c.449G>A	c.(448-450)gGt>gAt	p.G150D		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2			48	Hepatocellular(33;0.183)				TTGGAAAATGGTACCACATGG	0.378000			F, S, Mis		MDS, CLL								NSCLC(197;1631 3042 5741 31152)		Rec	yes		X	Xp22.1	8233	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2		L	0							SO:0001583	missense			ENST00000307771.7	1	1	hg19	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378601	0.61735	.	.	ENSG00000169249	ENST00000307771	D	0.85955	-2.05	5.31	3.44	0.39384	.	0.322273	0.37219	N	0.002193	D	0.86859	0.6034	M	0.69358	2.11	0.80722	D	1	D	0.59357	0.985	P	0.51945	0.685	D	0.84916	0.0851	10	0.46703	T	0.11	.	11.3939	0.49830	0.0:0.1333:0.725:0.1417	.	150	Q15696	U2AFM_HUMAN	D	150	ENSP00000303015:G150D	ENSP00000303015:G150D	G	+	2	0	ZRSR2	15737254	1.000000	0.71417	0.035000	0.18076	0.985000	0.73830	5.920000	0.70017	0.475000	0.27415	0.594000	0.82650	GGT		TCGA-IB-7651-01A-11D-2154-08	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	1	0	1	143	472	0	147	1	1	33	71	0	147	2		0	0	0	0	0	2	1	1	142	466	0	147	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
P2RY8	286530	broad.mit.edu	37	X	1584758	1584758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1584758G>A	ENST00000381297.4	-	2	904	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8			23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			GCGCGCCTCCGCTGCTCCCGG	0.662000			T	CRLF2	B-ALL, Downs associated ALL										Dom	yes		X,Y	Xp22.3; Yp11.3	286530	purinergic receptor P2Y, G-protein coupled, 8		L	0							SO:0001583	missense			ENST00000381297.4	1	1	hg19	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.539099	0.27475	.	.	ENSG00000182162	ENST00000381297	T	0.73152	-0.72	2.73	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.370473	0.22113	U	0.064443	T	0.64875	0.2638	L	0.31476	0.935	0.09310	N	1	D	0.76494	0.999	P	0.60473	0.875	T	0.60073	-0.7334	10	0.87932	D	0	.	4.8963	0.13751	0.0:0.2182:0.2192:0.5626	.	232	Q86VZ1	P2RY8_HUMAN	W	232	ENSP00000370697:R232W	ENSP00000370697:R232W	R	-	1	2	P2RY8	1544758	0.901000	0.30685	0.008000	0.14137	0.500000	0.33767	0.669000	0.25142	-0.839000	0.04212	0.279000	0.19357	CGG		TCGA-IB-7651-01A-11D-2154-08	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	1	0	0	10	153	0	40	0	2.160862e-01	0	13	0	40	2		0	0	0	0	0	2	1	9.969788e-01	10	151	0	40	2								-13.794770	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.730000	0.380000	1.000000	1.000000	0.741233	0.730000	0	5.300000e-01	9.700000e-01
P2RY8	286530	broad.mit.edu	37	X	1585098	1585098	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1585098G>A	ENST00000381297.4	-	2	564	c.354C>T	c.(352-354)agC>agT	p.S118S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8			23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			AGCGCTCCACGCTGATACAGG	0.632000			T	CRLF2	B-ALL, Downs associated ALL										Dom	yes		X,Y	Xp22.3; Yp11.3	286530	purinergic receptor P2Y, G-protein coupled, 8		L	0							SO:0001819	synonymous_variant			ENST00000381297.4	1	1	hg19	CCDS14115.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	1	0	1	26	79	0	32	0	4.687787e-01	0	6	0	32	2		0	0	0	0	0	2	1	1	25	79	0	32	2								-19.814880	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
GRPR	2925	broad.mit.edu	37	X	16168591	16168591	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16168591T>G	ENST00000380289.2	+	2	975	c.577T>G	c.(577-579)Ttc>Gtc	p.F193V	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor			25	Hepatocellular(33;0.183)				CAACCAGACCTTCATTAGCTG	0.498000																								0							SO:0001583	missense			ENST00000380289.2	1	1	hg19	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822558	0.90873	.	.	ENSG00000126010	ENST00000380289	T	0.70516	-0.49	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.38649	1.16	0.58432	D	0.999999	P	0.51240	0.943	P	0.54026	0.74	T	0.69258	-0.5192	10	0.30854	T	0.27	-31.2772	13.8099	0.63256	0.0:0.0:0.0:1.0	.	193	P30550	GRPR_HUMAN	V	193	ENSP00000369643:F193V	ENSP00000369643:F193V	F	+	1	0	GRPR	16078512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.857000	0.53885	0.486000	0.48141	TTC		TCGA-IB-7651-01A-11D-2154-08	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	1	0	1	154	473	0	127	0	6.101900e-02	0	2	0	127	2		0	0	0	0	0	2	1	1	151	453	0	127	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CTPS2	56474	broad.mit.edu	37	X	16635291	16635291	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16635291C>T	ENST00000443824.1	-	16	2271	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K|CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2			19	Hepatocellular(33;0.0997)				TCAATGATTTCCATCCTGTCT	0.378000																								0							SO:0001583	missense			ENST00000443824.1	1	1	hg19	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068700	0.93950	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	D;D;D	0.90676	-2.71;-2.71;-2.71	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.95917	3.74	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98106	1.0417	10	0.87932	D	0	-28.8314	18.7625	0.91858	0.0:1.0:0.0:0.0	.	510	Q9NRF8	PYRG2_HUMAN	K	510	ENSP00000401264:E510K;ENSP00000369590:E510K;ENSP00000352222:E510K	ENSP00000352222:E510K	E	-	1	0	CTPS2	16545212	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.089000	0.76909	2.482000	0.83794	0.600000	0.82982	GAA		TCGA-IB-7651-01A-11D-2154-08	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	1	0	1	157	500	0	166	1	9.999814e-01	29	23	0	166	2		0	0	0	0	0	2	1	1	153	487	0	166	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TXLNG	55787	broad.mit.edu	37	X	16855753	16855753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16855753C>T	ENST00000380122.5	+	8	1158	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma			15					GAATTCCAGACTACCATGGCA	0.313000																								0							SO:0001583	missense			ENST00000380122.5	1	1	hg19	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776198	0.70107	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.30981	1.51;1.51	5.41	5.41	0.78517	.	0.049162	0.85682	D	0.000000	T	0.48572	0.1507	L	0.43152	1.355	0.54753	D	0.999981	D;D	0.69078	0.979;0.997	P;D	0.67900	0.81;0.954	T	0.41840	-0.9486	10	0.51188	T	0.08	-13.8671	18.5566	0.91088	0.0:1.0:0.0:0.0	.	234;366	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	I	366;234	ENSP00000369465:T366I;ENSP00000381222:T234I	ENSP00000369465:T366I	T	+	2	0	TXLNG	16765674	0.999000	0.42202	0.997000	0.53966	0.988000	0.76386	3.366000	0.52343	2.411000	0.81874	0.436000	0.28706	ACT		TCGA-IB-7651-01A-11D-2154-08	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	1	0	1	37	142	0	68	1	9.971501e-01	14	24	0	68	2		0	0	0	0	0	2	1	1	36	142	0	68	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASMT	438	broad.mit.edu	37	X	1746651	1746651	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1746651A>C	ENST00000381229.4	+	4	466	c.430A>C	c.(430-432)Acg>Ccg	p.T144P	ASMT_ENST00000381241.3_Missense_Mutation_p.T144P|ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase			16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)		Melatonin(DB01065)	AGAGCTTTTTACGGCCATCTA	0.393000																								0							SO:0001583	missense			ENST00000381229.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	N	5.564	0.288915	0.10513	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.18016	2.24;2.24;2.24	1.48	-0.465	0.12157	.	1.013810	0.07922	U	0.976093	T	0.16811	0.0404	L	0.54323	1.7	0.09310	N	0.999999	P;P	0.40250	0.49;0.709	B;B	0.41236	0.124;0.351	T	0.29119	-1.0022	10	0.46703	T	0.11	.	4.4792	0.11759	0.489:0.0:0.511:0.0	.	144;144	P46597-2;P46597-3	.;.	P	144	ENSP00000370639:T144P;ENSP00000370627:T144P;ENSP00000370631:T144P	ENSP00000370627:T144P	T	+	1	0	ASMT	1706651	0.011000	0.17503	0.006000	0.13384	0.106000	0.19336	0.774000	0.26675	0.399000	0.25367	0.206000	0.17768	ACG		TCGA-IB-7651-01A-11D-2154-08	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	1	0	1	206	610	0	241		0	0	0	0	241	2		0	0	0	0	0	2	1	1	202	598	0	240	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BEND2	139105	broad.mit.edu	37	X	18209204	18209204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18209204C>T	ENST00000380033.4	-	8	1337	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E	BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2			49					ACTCATTGTCCCATAACTCAT	0.368000																								0							SO:0001583	missense			ENST00000380033.4	1	1	hg19	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.187430	0.01620	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.18502	2.21;2.31	3.03	-0.898	0.10550	.	2.177200	0.01931	N	0.041245	T	0.08537	0.0212	N	0.16790	0.44	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.12837	0.008;0.0	T	0.17868	-1.0355	10	0.02654	T	1	-0.0082	3.3303	0.07082	0.2052:0.1411:0.0:0.6537	.	311;402	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	E	402;311	ENSP00000369372:G402E;ENSP00000369369:G311E	ENSP00000369369:G311E	G	-	2	0	BEND2	18119125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	-0.286000	0.09076	-1.169000	0.01745	GGG		TCGA-IB-7651-01A-11D-2154-08	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	1	0	1	53	219	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	52	216	0	108	2								-3.394321	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BEND2	139105	broad.mit.edu	37	X	18221838	18221838	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18221838G>A	ENST00000380033.4	-	5	822	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BEND2_ENST00000380030.3_Silent_p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	p.F230F(1)		49					ATGGCATACCGAAACAAGGAA	0.453000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000380033.4	1	1	hg19	CCDS14184.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	1	0	1	116	395	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1	115	391	0	115	2								-4.530789	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDKL5	6792	broad.mit.edu	37	X	18646512	18646512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18646512C>T	ENST00000379989.3	+	19	2803	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5			44	Hepatocellular(33;0.183)				AAAATCACTGCGCAAGTTGTT	0.493000																								0							SO:0001583	missense			ENST00000379989.3	1	1	hg19	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246893	0.59103	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75367	-0.93;-0.93	5.73	5.73	0.89815	.	0.049980	0.85682	D	0.000000	T	0.77928	0.4204	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.64506	0.926	T	0.80054	-0.1543	10	0.87932	D	0	-17.7035	12.2655	0.54676	0.0:0.9208:0.0:0.0792	.	840	O76039	CDKL5_HUMAN	C	840	ENSP00000369332:R840C;ENSP00000369325:R840C	ENSP00000369325:R840C	R	+	1	0	CDKL5	18556433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.594000	0.67557	2.398000	0.81561	0.594000	0.82650	CGC		TCGA-IB-7651-01A-11D-2154-08	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	1	0	1	412	1533	1	462	1	9.184079e-01	6	12	1	462	2		0	0	0	0	0	2	1	1	401	1475	1	456	15								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RS1	6247	broad.mit.edu	37	X	18662597	18662597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18662597C>A	ENST00000379984.3	-	5	515	c.475G>T	c.(475-477)Gag>Tag	p.E159*	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	p.E159K(1)		15	Hepatocellular(33;0.183)				TTCAGGCGCTCATCGGTCCTG	0.527000																								1	Substitution - Missense(1)						SO:0001587	stop_gained			ENST00000379984.3	0	1	hg19	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	c	36	5.821973	0.96989	.	.	ENSG00000102104	ENST00000379984	.	.	.	4.91	4.91	0.64330	.	0.136484	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.5225	0.87791	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000369320:E159X	E	-	1	0	RS1	18572518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.275000	0.78548	2.410000	0.81850	0.591000	0.81541	GAG		TCGA-IB-7651-01A-11D-2154-08	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1	1	0	1	128	426	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1	122	419	0	129	2								-4.698312	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDKL5	6792	broad.mit.edu	37	X	18671647	18671647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18671647G>A	ENST00000379989.3	+	22	3361	c.3076G>A	c.(3076-3078)Gca>Aca	p.A1026T	RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'Flank|CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5			44	Hepatocellular(33;0.183)				TGAGAATGCGGCACTGACGGG	0.517000																								0							SO:0001583	missense			ENST00000379989.3	1	1	hg19	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769422	0.49680	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71222	-0.55;-0.55	4.32	-0.897	0.10553	.	1.488660	0.04571	N	0.393227	T	0.48429	0.1499	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38351	-0.9665	10	0.87932	D	0	-0.0154	3.5465	0.07831	0.5001:0.0:0.3104:0.1895	.	1026	O76039	CDKL5_HUMAN	T	1026	ENSP00000369332:A1026T;ENSP00000369325:A1026T	ENSP00000369325:A1026T	A	+	1	0	CDKL5	18581568	0.364000	0.24997	0.000000	0.03702	0.001000	0.01503	0.673000	0.25203	-0.349000	0.08274	-0.191000	0.12829	GCA		TCGA-IB-7651-01A-11D-2154-08	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	1	0	1	31	105	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	29	101	0	38	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPEF1	5475	broad.mit.edu	37	X	18824540	18824540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18824540C>T	ENST00000361511.4	+	15	1765	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1			43	Hepatocellular(33;0.183)				ATATTTTCTGCTTCTAATTAT	0.373000																								0							SO:0001583	missense			ENST00000361511.4	1	1	hg19	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	c	15.94	2.980000	0.53827	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.57	4.71	0.59529	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.432853	0.21774	N	0.069307	T	0.50633	0.1627	M	0.84773	2.715	0.58432	D	0.999993	D;D;D	0.89917	0.972;1.0;0.972	P;D;P	0.91635	0.536;0.999;0.536	T	0.57081	-0.7872	10	0.72032	D	0.01	-6.5339	13.6719	0.62430	0.0:0.9238:0.0:0.0762	.	362;424;396	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	V	424;371;362;359	ENSP00000354871:A424V;ENSP00000352806:A371V;ENSP00000341892:A362V;ENSP00000441289:A359V	ENSP00000341892:A362V	A	+	2	0	PPEF1	18734461	1.000000	0.71417	0.986000	0.45419	0.102000	0.19082	7.356000	0.79445	1.116000	0.41820	-0.329000	0.08387	GCT		TCGA-IB-7651-01A-11D-2154-08	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	1	0	1	169	479	0	157	0	7.246502e-01	0	9	0	157	2		0	0	0	0	0	2	1	1	168	472	0	157	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PHKA2	5256	broad.mit.edu	37	X	18911732	18911732	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911732G>T	ENST00000379942.4	-	33	4244	c.3579C>A	c.(3577-3579)gcC>gcA	p.A1193A	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)			61	Hepatocellular(33;0.183)				AGATTCCTGTGGCTTGGTCTT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000379942.4	1	1	hg19	CCDS14190.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	0	1	172	658	1	213	1	9.989092e-01	29	21	1	213	3		0	0	0	0	0	2	1	1	169	649	0	212	2								-3.503710	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR64	10149	broad.mit.edu	37	X	19028891	19028891	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19028891C>T	ENST00000379869.3	-	17	1268	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I|GPR64_ENST00000379878.3_Missense_Mutation_p.V353I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64			42	Hepatocellular(33;0.183)				CTGGTGTTGACGATGTCTATA	0.438000																								0							SO:0001583	missense			ENST00000379869.3	1	1	hg19	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183340	0.09495	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.34859	1.41;1.52;1.52;1.52;1.51;1.56;1.51;1.56;1.56;1.34	5.81	-0.0528	0.13820	.	1.173110	0.06308	N	0.702179	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.20671	0.007;0.012;0.014;0.005;0.005;0.047;0.047;0.047;0.027;0.003;0.008	B;B;B;B;B;B;B;B;B;B;B	0.15484	0.002;0.008;0.013;0.008;0.008;0.013;0.013;0.013;0.013;0.004;0.005	T	0.28038	-1.0056	10	0.48119	T	0.1	.	0.9248	0.01322	0.4206:0.2507:0.1223:0.2064	.	339;331;339;345;353;369;347;355;366;369;353	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	369;353;353;345;339;369;347;366;355;339	ENSP00000369202:V369I;ENSP00000369207:V353I;ENSP00000346845:V353I;ENSP00000369205:V345I;ENSP00000350152:V339I;ENSP00000369198:V369I;ENSP00000353421:V347I;ENSP00000350680:V366I;ENSP00000349015:V355I;ENSP00000344972:V339I	ENSP00000344972:V339I	V	-	1	0	GPR64	18938812	0.199000	0.23386	0.001000	0.08648	0.050000	0.14768	-0.188000	0.09642	-0.065000	0.13021	0.600000	0.82982	GTC		TCGA-IB-7651-01A-11D-2154-08	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2	1	0	1	86	301	0	109	1	3.096436e-01	2	3	0	109	2		0	0	0	0	0	2	1	1	85	296	0	109	2								-4.204942	1	1	121394	20	45	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDHA1	5160	broad.mit.edu	37	X	19373539	19373539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19373539C>T	ENST00000422285.2	+	7	781	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	PDHA1_ENST00000379806.5_Missense_Mutation_p.R264C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1			18	Hepatocellular(33;0.183)				TGAGAATAATCGCTATGGAAT	0.458000																								0							SO:0001583	missense			ENST00000422285.2	1	1	hg19	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337215	0.81911	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.76	4.9	0.64082	Dehydrogenase, E1 component (1);	0.095399	0.64402	D	0.000001	D	0.97173	0.9076	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	P;P;P;P;P	0.56398	0.773;0.797;0.759;0.762;0.759	D	0.96667	0.9493	10	0.62326	D	0.03	-23.0063	9.2392	0.37486	0.1438:0.7815:0.0:0.0748	.	195;233;226;264;226	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	C	264;233;195;226	ENSP00000369134:R264C;ENSP00000438550:R233C;ENSP00000440761:R195C;ENSP00000394382:R226C	ENSP00000369134:R264C	R	+	1	0	PDHA1	19283460	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.064000	0.41432	1.313000	0.45069	0.594000	0.82650	CGC		TCGA-IB-7651-01A-11D-2154-08	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1	1	0	1	187	657	0	195	1	1	161	73	0	195	2		0	0	0	0	0	2	1	1	185	649	0	195	2								-4.561378	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP3K15	389840	broad.mit.edu	37	X	19379653	19379653	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19379653G>A	ENST00000338883.4	-	27	3737	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D|MAP3K15_ENST00000469203.2_Silent_p.D1078D|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15			42	Hepatocellular(33;0.183)				GCCGCAACCAGTCTATAAGCT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000338883.4	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	0	82	658	0	145	1	9.170129e-01	14	22	0	145	2		0	0	0	0	0	2	1	1	81	642	0	143	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999713	0.990000	1	9.900000e-01	1
MAP3K15	389840	broad.mit.edu	37	X	19413252	19413252	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19413252C>T	ENST00000338883.4	-	16	2140	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	MAP3K15_ENST00000359173.3_Missense_Mutation_p.G149D|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15			42	Hepatocellular(33;0.183)				TGAAACAGAGCCCAGGTACTG	0.483000																								0							SO:0001583	missense			ENST00000338883.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.1	4.373227	0.82573	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.25579	1.79;1.79;1.79	5.91	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.49350	1.555	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	T	0.42361	-0.9456	10	0.87932	D	0	.	14.1375	0.65297	0.0:0.9264:0.0:0.0736	.	189;714	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	D	714;149;546	ENSP00000345629:G714D;ENSP00000352093:G149D;ENSP00000428356:G546D	ENSP00000345629:G714D	G	-	2	0	MAP3K15	19323173	1.000000	0.71417	0.960000	0.40013	0.898000	0.52572	7.429000	0.80309	1.243000	0.43853	0.597000	0.82753	GGC		TCGA-IB-7651-01A-11D-2154-08	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	139	516	0	188	0	0	0	1	0	188	2		0	0	0	0	0	2	1	1	137	508	0	186	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP7D2	256714	broad.mit.edu	37	X	20074873	20074873	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20074873G>A	ENST00000379651.3	-	4	427	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2			37					TGCTGTGTGCGCTCCAGGGAC	0.557000																								0							SO:0001583	missense			ENST00000379651.3	1	1	hg19	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426952	0.43122	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324;ENST00000330274	T;T;T;T;T	0.12774	2.65;2.65;3.04;2.65;2.65	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.39517	0.1081	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.92;0.963;0.963;0.999;0.92;0.963	T	0.23440	-1.0188	10	0.87932	D	0	-9.6776	18.3055	0.90179	0.0:0.0:1.0:0.0	.	137;93;137;137;137;8	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17;F5GYC2	.;.;.;.;MA7D2_HUMAN;.	C	137;137;8;137;93;137	ENSP00000368972:R137C;ENSP00000368964:R137C;ENSP00000440691:R8C;ENSP00000388239:R137C;ENSP00000413301:R93C	ENSP00000332677:R137C	R	-	1	0	MAP7D2	19984794	1.000000	0.71417	0.729000	0.30791	0.238000	0.25445	5.118000	0.64673	2.349000	0.79799	0.506000	0.49869	CGC		TCGA-IB-7651-01A-11D-2154-08	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	1	0	1	60	221	0	71	0	4.705619e-02	0	2	0	71	2		0	0	0	0	0	2	1	1	59	216	0	71	2								-3.794154	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAP7D2	256714	broad.mit.edu	37	X	20134917	20134917	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20134917G>A	ENST00000379651.3	-	1	99	c.81C>T	c.(79-81)atC>atT	p.I27I	MAP7D2_ENST00000443379.3_Silent_p.I27I|MAP7D2_ENST00000379643.5_Silent_p.I27I|MAP7D2_ENST00000452324.3_5'Flank	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2			37					CCGGTTCTGCGATCTTCCCTG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000379651.3	0	1	hg19	CCDS14195.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	1	0	0	27	50	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	1	27	49	0	12	2								-20.000000	1	1	120610	3	28	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PLCXD1	55344	broad.mit.edu	37	X	207360	207360	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:207360G>T	ENST00000381657.2	+	4	824	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y|PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1			11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			GCGGTACCTGGACCTGCGGAT	0.652000																								0							SO:0001583	missense			ENST00000381657.2	1	1	hg19	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.582150	0.46006	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472;ENST00000448477	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	2.14	2.14	0.27477	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	U	0.000000	T	0.78233	0.4251	.	.	.	0.09310	N	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.67507	-0.5653	9	0.87932	D	0	.	9.9412	0.41580	0.0:0.0:1.0:0.0	.	104	Q9NUJ7	PLCX1_HUMAN	Y	104	ENSP00000381976:D104Y;ENSP00000394848:D104Y;ENSP00000371073:D104Y;ENSP00000371079:D104Y;ENSP00000399510:D104Y;ENSP00000405307:D104Y	ENSP00000371073:D104Y	D	+	1	0	PLCXD1	147360	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	5.465000	0.66725	0.876000	0.35872	0.398000	0.26397	GAC		TCGA-IB-7651-01A-11D-2154-08	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	1	0	1	66	213	0	70	1	9.992501e-01	25	13	0	70	2		0	0	0	0	0	2	1	1	66	210	0	70	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DHRSX	207063	broad.mit.edu	37	X	2139202	2139202	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2139202G>A	ENST00000334651.5	-	7	925	c.873C>T	c.(871-873)ggC>ggT	p.G291G		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked			16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)			ATAGGTAATGGCCACCAACTC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000334651.5	1	1	hg19	CCDS35195.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	1	0	1	104	288	0	133	1	1	19	85	0	133	2		0	0	0	0	0	2	1	1	104	281	0	133	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CNKSR2	22866	broad.mit.edu	37	X	21519642	21519642	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21519642C>A	ENST00000379510.3	+	8	782	c.746C>A	c.(745-747)cCt>cAt	p.P249H	CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P249H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2			61					ATTCAGTCACCTGCAGATCGG	0.348000																								0							SO:0001583	missense			ENST00000379510.3	1	1	hg19	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893322	0.72524	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.98	5.09	0.68999	PDZ/DHR/GLGF (4);	0.057904	0.64402	D	0.000001	T	0.64800	0.2631	M	0.92604	3.325	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.99;0.987;0.992	T	0.74287	-0.3714	10	0.87932	D	0	-18.6417	15.6383	0.76973	0.1375:0.8625:0.0:0.0	.	249;249;249	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	H	249	ENSP00000397906:P249H;ENSP00000444633:P249H;ENSP00000279451:P249H;ENSP00000368824:P249H	ENSP00000279451:P249H	P	+	2	0	CNKSR2	21429563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.174000	0.58256	2.524000	0.85096	0.544000	0.68410	CCT		TCGA-IB-7651-01A-11D-2154-08	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	1	0	1	27	121	0	34	0	3.851974e-01	0	7	0	34	2		0	0	0	0	0	2	1	1	27	120	0	33	2								-3.392360	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
KLHL34	257240	broad.mit.edu	37	X	21674239	21674239	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21674239C>T	ENST00000379499.2	-	1	2209	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34			26					CGTAGGGCAGCGGCCGCAACC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000379499.2	0	1	hg19	CCDS14199.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	1	0	0	10	45	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.977818e-01	10	45	0	7	2								-19.673930	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.997165	0.990000	1	9.900000e-01	1
KLHL34	257240	broad.mit.edu	37	X	21675171	21675171	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21675171C>T	ENST00000379499.2	-	1	1277	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34			26					TTGACCCGGGCGGGCAGCACG	0.682000																								0							SO:0001583	missense			ENST00000379499.2	1	1	hg19	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692502	0.00731	.	.	ENSG00000185915	ENST00000379499	T	0.72505	-0.66	4.65	-0.922	0.10468	.	0.198499	0.44097	N	0.000496	T	0.46171	0.1379	L	0.31578	0.945	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14615	-1.0466	10	0.12430	T	0.62	.	3.0359	0.06122	0.13:0.4688:0.248:0.1531	.	246	Q8N239	KLH34_HUMAN	T	246	ENSP00000368813:A246T	ENSP00000368813:A246T	A	-	1	0	KLHL34	21585092	0.000000	0.05858	0.009000	0.14445	0.381000	0.30169	-0.519000	0.06260	-0.187000	0.10516	0.422000	0.28245	GCC		TCGA-IB-7651-01A-11D-2154-08	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	1	0	1	33	113	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1	32	108	0	24	2								-20.000000	1	1	120920	2	25	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMPX	23676	broad.mit.edu	37	X	21755811	21755811	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21755811A>G	ENST00000379494.3	-	4	370	c.137T>C	c.(136-138)gTt>gCt	p.V46A	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked			2					GGTGGGAGGAACACCCTGAAG	0.408000																								0							SO:0001583	missense			ENST00000379494.3	1	1	hg19	CCDS14200.1	.	.	.	.	.	.	.	.	.	.	A	5.414	0.261572	0.10239	.	.	ENSG00000091482	ENST00000379494	.	.	.	6.11	0.0316	0.14171	.	0.883982	0.10193	N	0.704369	T	0.21509	0.0518	.	.	.	0.25343	N	0.988934	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	8	0.09338	T	0.73	-3.5021	10.4529	0.44533	0.5545:0.0:0.4455:0.0	.	46	Q9UHP9	SMPX_HUMAN	A	46	.	ENSP00000368808:V46A	V	-	2	0	SMPX	21665732	0.000000	0.05858	0.992000	0.48379	0.887000	0.51463	-1.951000	0.01529	0.005000	0.14708	-0.287000	0.09952	GTT		TCGA-IB-7651-01A-11D-2154-08	SMPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056023.1	1	0	0	23	252	0	48	0	7.791601e-03	0	2	0	48	2		0	0	0	0	0	2	1	9.999994e-01	23	249	0	47	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.980000	0.640000	1.000000	1.000000	0.923280	0.980000	1	8.000000e-01	1
PHEX	5251	broad.mit.edu	37	X	22129647	22129647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:22129647G>A	ENST00000379374.4	+	10	1707	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PHEX_ENST00000418858.3_Missense_Mutation_p.R84H|PHEX_ENST00000537599.1_Missense_Mutation_p.R381H|PHEX_ENST00000535894.1_Missense_Mutation_p.R284H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked			42					CTTAGCAGGCGCTTTCAGTAT	0.383000																								0							SO:0001583	missense			ENST00000379374.4	1	1	hg19	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838748	0.91117	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.58	5.58	0.84498	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	D	0.92463	0.5979	10	0.62326	D	0.03	.	18.2521	0.90007	0.0:0.0:1.0:0.0	.	381;381	F5GXU4;P78562	.;PHEX_HUMAN	H	381;381;284;84	ENSP00000368682:R381H;ENSP00000440362:R381H;ENSP00000439418:R284H;ENSP00000443531:R84H	ENSP00000368682:R381H	R	+	2	0	PHEX	22039568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.944000	0.87722	2.349000	0.79799	0.600000	0.82982	CGC		TCGA-IB-7651-01A-11D-2154-08	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	1	0	1	198	557	0	164	0	0	0	1	0	164	2		0	0	0	0	0	2	1	1	193	551	0	162	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX53	168400	broad.mit.edu	37	X	23020059	23020059	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23020059T>G	ENST00000327968.5	+	1	1973	c.1885T>G	c.(1885-1887)Ttt>Gtt	p.F629V	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53			35					GGAGTTTTATTTTTTAAGTTG	0.358000																								0							SO:0001583	missense			ENST00000327968.5	1	1	hg19	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308209	0.23821	.	.	ENSG00000184735	ENST00000327968	T	0.20200	2.09	4.59	-5.8	0.02347	.	3.946380	0.01749	U	0.029825	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.22800	0.075	B	0.16722	0.016	T	0.30679	-0.9970	10	0.62326	D	0.03	.	7.2613	0.26205	0.1135:0.4525:0.0:0.434	.	629	Q86TM3	DDX53_HUMAN	V	629	ENSP00000368667:F629V	ENSP00000368667:F629V	F	+	1	0	DDX53	22929980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.032000	0.00637	-1.289000	0.02375	-1.381000	0.01174	TTT		TCGA-IB-7651-01A-11D-2154-08	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	1	0	1	37	139	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	37	134	0	46	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTCHD1	139411	broad.mit.edu	37	X	23398084	23398084	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23398084C>A	ENST00000379361.4	+	2	1588	c.728C>A	c.(727-729)tCc>tAc	p.S243Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1			42					TTTCAGAAATCCAACAGCAAA	0.507000																								0							SO:0001583	missense			ENST00000379361.4	1	1	hg19	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774582	0.49786	.	.	ENSG00000165186	ENST00000379361	D	0.86694	-2.16	4.86	3.0	0.34707	.	0.348412	0.31370	N	0.007762	D	0.85457	0.5701	N	0.19112	0.55	0.32494	N	0.539809	P;P	0.51537	0.727;0.946	B;P	0.59115	0.408;0.852	D	0.86509	0.1808	10	0.46703	T	0.11	.	12.1616	0.54107	0.475:0.525:0.0:0.0	.	138;243	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	Y	243	ENSP00000368666:S243Y	ENSP00000368666:S243Y	S	+	2	0	PTCHD1	23308005	0.842000	0.29525	0.999000	0.59377	0.997000	0.91878	1.156000	0.31712	0.502000	0.28037	0.600000	0.82982	TCC		TCGA-IB-7651-01A-11D-2154-08	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	1	0	1	258	967	0	333	0	0	1	0	0	333	2		0	0	0	0	0	2	1	1	253	947	0	331	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBED1	9189	broad.mit.edu	37	X	2406797	2406797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406797G>A	ENST00000381223.4	-	2	2167	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1			25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			TTCCGCCTCTGCCCCACTCCG	0.657000																								0							SO:0001583	missense			ENST00000381223.4	1	1	hg19	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	3.572	-0.087486	0.07097	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	3.06	2.16	0.27623	Ribonuclease H-like (1);	0.670871	0.11924	U	0.516364	T	0.28333	0.0700	.	.	.	0.09310	N	0.999999	B	0.27498	0.18	B	0.18871	0.023	T	0.11991	-1.0565	8	0.28530	T	0.3	.	11.3878	0.49796	0.0:0.1813:0.8187:0.0	.	655	O96006	ZBED1_HUMAN	V	655	.	ENSP00000370616:A655V	A	-	2	0	ZBED1	2416797	0.320000	0.24616	0.003000	0.11579	0.015000	0.08874	2.377000	0.44300	0.193000	0.20303	0.519000	0.50382	GCA		TCGA-IB-7651-01A-11D-2154-08	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	1	0	1	185	533	0	144	1	9.999994e-01	10	51	0	144	2		0	0	0	0	0	2	1	1	184	528	0	143	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBED1	9189	broad.mit.edu	37	X	2406917	2406917	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406917C>T	ENST00000381223.4	-	2	2047	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'UTR|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1			25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			AGGGGCGACGCGCGTGGCCGT	0.662000																								0							SO:0001583	missense			ENST00000381223.4	1	1	hg19	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211017	0.39102	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22336	1.96;1.96;1.96	3.06	3.06	0.35304	HAT dimerisation (1);Ribonuclease H-like (1);	0.371038	0.23307	N	0.049612	T	0.41880	0.1178	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64144	0.922	T	0.27020	-1.0086	9	0.72032	D	0.01	.	13.6519	0.62316	0.0:1.0:0.0:0.0	.	615	O96006	ZBED1_HUMAN	H	615	ENSP00000370621:R615H;ENSP00000370620:R615H;ENSP00000370616:R615H	ENSP00000370616:R615H	R	-	2	0	ZBED1	2416917	0.964000	0.33143	0.141000	0.22245	0.139000	0.21198	5.063000	0.64332	1.155000	0.42497	0.519000	0.50382	CGC		TCGA-IB-7651-01A-11D-2154-08	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	1	0	1	220	716	0	164	1	9.999994e-01	10	57	0	164	2		0	0	0	0	0	2	1	1	219	705	0	159	2								-20.000000	1	1	121380	2	43	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBED1	9189	broad.mit.edu	37	X	2407814	2407814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2407814C>T	ENST00000381223.4	-	2	1150	c.947G>A	c.(946-948)cGc>cAc	p.R316H	ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1			25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			CACCAGTTTGCGGCAGCGCGA	0.622000																								0							SO:0001583	missense			ENST00000381223.4	1	1	hg19	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991842	0.35131	0.0	1.16E-4	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.28666	1.6;1.6;1.6	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.447401	0.19468	N	0.113536	T	0.52709	0.1751	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.44847	-0.9301	9	0.52906	T	0.07	-15.8715	13.6519	0.62316	0.0:1.0:0.0:0.0	.	316	O96006	ZBED1_HUMAN	H	316	ENSP00000370621:R316H;ENSP00000370620:R316H;ENSP00000370616:R316H	ENSP00000370616:R316H	R	-	2	0	ZBED1	2417814	0.999000	0.42202	0.022000	0.16811	0.013000	0.08279	5.371000	0.66150	1.155000	0.42497	0.519000	0.50382	CGC		TCGA-IB-7651-01A-11D-2154-08	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	0	0	1	79	247	0	72	1	9.999974e-01	13	49	0	72	2		0	0	0	0	0	2	1	1	77	245	0	70	2								-4.778387	1	1	121406	4	36	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZBED1	9189	broad.mit.edu	37	X	2408449	2408449	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2408449C>A	ENST00000381223.4	-	2	515	c.312G>T	c.(310-312)caG>caT	p.Q104H	ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1			25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			CCTGCCCGGGCTGCTGGGACG	0.667000																								0							SO:0001583	missense			ENST00000381223.4	1	1	hg19	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.158378	0.00321	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	1.71	0.24356	.	5.059470	0.01243	U	0.008673	T	0.27933	0.0688	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	8	0.27082	T	0.32	-6.024	3.0642	0.06209	0.0:0.4398:0.2263:0.3339	.	104	O96006	ZBED1_HUMAN	H	104	.	ENSP00000370616:Q104H	Q	-	3	2	ZBED1	2418449	0.372000	0.25064	0.003000	0.11579	0.112000	0.19704	0.935000	0.28924	0.150000	0.19136	0.425000	0.28330	CAG		TCGA-IB-7651-01A-11D-2154-08	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	1	0	1	44	404	0	99	1	9.727205e-01	3	52	0	99	2		0	0	0	0	0	2	1	1	43	395	0	97	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.850000	1.000000	1.000000	0.987972	0.990000	1	9.900000e-01	1
ZFX	7543	broad.mit.edu	37	X	24190912	24190912	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24190912C>T	ENST00000379177.1	+	5	480	c.53C>T	c.(52-54)gCa>gTa	p.A18V	ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.A18V	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked			24					TTTTTTGATGCAACAGGTATA	0.383000													Esophageal Squamous(20;306 562 7346 32868 37983)											0							SO:0001583	missense			ENST00000379177.1	1	1	hg19	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261242	0.39995	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000419690;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.08807	3.2;3.2;3.2;3.05;3.21	5.23	4.37	0.52481	.	0.178042	0.37955	N	0.001867	T	0.06781	0.0173	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.34399	0.0;0.452;0.023;0.049	B;B;B;B	0.33454	0.001;0.164;0.029;0.039	T	0.31833	-0.9929	10	0.62326	D	0.03	-30.729	11.4795	0.50318	0.0:0.9143:0.0:0.0857	.	18;18;18;22	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	V	18	ENSP00000368486:A18V;ENSP00000368475:A18V;ENSP00000304985:A18V;ENSP00000441382:A18V;ENSP00000343384:A18V	ENSP00000304985:A18V	A	+	2	0	ZFX	24100833	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.357000	0.59436	1.090000	0.41315	0.600000	0.82982	GCA		TCGA-IB-7651-01A-11D-2154-08	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	1	0	1	47	218	0	77	1	9.936813e-01	14	25	0	77	2		0	0	0	0	0	2	1	1	46	215	0	75	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCYT1B	9468	broad.mit.edu	37	X	24625913	24625913	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24625913C>T	ENST00000379144.2	-	3	413	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T|PCYT1B_ENST00000379145.1_Missense_Mutation_p.A77T	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta			17				Choline(DB00122)	TGCATAAGGGCTCTTGCATGA	0.423000																								0							SO:0001583	missense			ENST00000379144.2	1	1	hg19	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763920	0.89932	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96554	-4.05;-4.05;-4.05	5.19	5.19	0.71726	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.95300	0.8475	L	0.56769	1.78	0.80722	D	1	D;P;P	0.53745	0.962;0.86;0.86	B;B;B	0.43701	0.333;0.346;0.428	D	0.95264	0.8371	10	0.48119	T	0.1	-34.0451	17.8268	0.88668	0.0:1.0:0.0:0.0	.	95;77;95	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	T	77;95;95	ENSP00000368440:A77T;ENSP00000368439:A95T;ENSP00000349211:A95T	ENSP00000349211:A95T	A	-	1	0	PCYT1B	24535834	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.320000	0.79064	2.398000	0.81561	0.544000	0.68410	GCC		TCGA-IB-7651-01A-11D-2154-08	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	1	0	1	26	63	0	17	0	2.145863e-01	0	3	0	17	2		0	0	0	0	0	2	1	1	25	62	0	17	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POLA1	5422	broad.mit.edu	37	X	24732735	24732735	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24732735G>A	ENST00000379059.3	+	5	408	c.393G>A	c.(391-393)ccG>ccA	p.P131P	POLA1_ENST00000379068.3_Silent_p.P137P	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit			11				Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGACAAAACCGAACAACATTA	0.353000																								0							SO:0001819	synonymous_variant			ENST00000379059.3	1	1	hg19	CCDS14214.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	1	0	1	19	44	0	21	1	9.648523e-01	10	6	0	21	2		0	0	0	0	0	2	1	9.999965e-01	18	43	0	21	2								-17.733370	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
MAGEB6	158809	broad.mit.edu	37	X	26212149	26212149	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212149G>T	ENST00000379034.1	+	2	335	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6			33					CCATTCCTCAGGAGTCTCAGG	0.522000																								0							SO:0001583	missense			ENST00000379034.1	1	1	hg19	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503317	0.26949	.	.	ENSG00000176746	ENST00000379034	T	0.08458	3.09	1.59	0.603	0.17541	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.08358	0.0208	L	0.58354	1.805	0.09310	N	1	B	0.28605	0.217	B	0.22753	0.041	T	0.27536	-1.0071	9	0.59425	D	0.04	.	5.1954	0.15233	0.0:0.3673:0.6327:0.0	.	62	Q8N7X4	MAGB6_HUMAN	H	62	ENSP00000368320:Q62H	ENSP00000368320:Q62H	Q	+	3	2	MAGEB6	26122070	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.243000	0.08915	0.121000	0.18284	0.429000	0.28392	CAG		TCGA-IB-7651-01A-11D-2154-08	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	1	0	1	80	267	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1	78	258	0	85	2								-4.352940	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEB6	158809	broad.mit.edu	37	X	26212833	26212833	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212833G>A	ENST00000379034.1	+	2	1019	c.870G>A	c.(868-870)tcG>tcA	p.S290S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6			33					TCCTGATGTCGCTCCTGGTTG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000379034.1	1	1	hg19	CCDS14217.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	1	0	1	194	631	0	193		0	0	0	0	193	2		0	0	0	0	0	2	1	1	194	622	0	191	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
XG	7499	broad.mit.edu	37	X	2707735	2707735	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2707735G>T	ENST00000381174.5	+	5	466	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C	XG_ENST00000426774.1_Missense_Mutation_p.G81C|XG_ENST00000419513.2_Missense_Mutation_p.G81C			P55808	XG_HUMAN	Xg blood group			8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)			TGGCAATTCCGGCAACAGTGG	0.303000																								0							SO:0001583	missense			ENST00000381174.5	0	1	hg19	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270714	0.23221	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	2.26	1.37	0.22104	.	0.356545	0.23780	U	0.044625	T	0.29817	0.0745	L	0.49778	1.585	0.09310	N	1	D;D	0.57571	0.98;0.975	P;P	0.55923	0.787;0.681	T	0.07888	-1.0749	10	0.35671	T	0.21	.	4.6521	0.12599	0.2032:0.0:0.7968:0.0	.	81;81	P55808;P55808-3	XG_HUMAN;.	C	81;81;81;59	ENSP00000370566:G81C;ENSP00000411004:G81C;ENSP00000398503:G81C;ENSP00000430005:G59C	ENSP00000370566:G81C	G	+	1	0	XG	2717735	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.121000	0.15667	0.213000	0.20722	-0.192000	0.12808	GGC		TCGA-IB-7651-01A-11D-2154-08	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	0	0	0	4	22	0	8	0	3.694581e-02	1	1	0	8	2		0	0	0	0	0	2	1	8.956771e-01	4	22	0	8	2								-5.913905	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.570000	1.000000	1.000000	0.960417	0.990000	1	9.500000e-01	1
DCAF8L1	139425	broad.mit.edu	37	X	27998727	27998727	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:27998727A>G	ENST00000441525.1	-	1	839	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	p.V242G(1)		56					AGCCTGGATGACATTAATATC	0.488000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000441525.1	1	1	hg19	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504791	0.44558	.	.	ENSG00000226372	ENST00000441525	D	0.88741	-2.42	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070917	0.56097	D	0.000032	D	0.91061	0.7187	M	0.91196	3.185	0.40817	D	0.983474	P	0.50943	0.94	P	0.49853	0.624	D	0.89265	0.3600	10	0.87932	D	0	-7.6917	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	242	A6NGE4	DC8L1_HUMAN	A	242	ENSP00000405222:V242A	ENSP00000405222:V242A	V	-	2	0	DCAF8L1	27908648	1.000000	0.71417	0.137000	0.22149	0.019000	0.09904	3.817000	0.55668	0.571000	0.29365	0.235000	0.17854	GTC		TCGA-IB-7651-01A-11D-2154-08	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	1	0	1	49	208	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	47	205	0	63	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARSE	415	broad.mit.edu	37	X	2861177	2861177	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2861177G>A	ENST00000381134.3	-	8	1121	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	ARSE_ENST00000540563.1_Missense_Mutation_p.S307L|ARSE_ENST00000545496.1_Missense_Mutation_p.S377L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)			17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			GCCGTGATCCGACGTAAAATA	0.473000																								0							SO:0001583	missense			ENST00000381134.3	1	1	hg19	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008822	0.75046	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.96619	-4.07;-4.07;-4.07	3.66	3.66	0.41972	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.99855	4.85	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.992	D	0.98419	1.0576	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	307;377;352	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	L	307;377;352	ENSP00000438198:S307L;ENSP00000441417:S377L;ENSP00000370526:S352L	ENSP00000370526:S352L	S	-	2	0	ARSE	2871177	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.542000	0.82095	1.608000	0.50180	0.600000	0.82982	TCG		TCGA-IB-7651-01A-11D-2154-08	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	1	0	1	61	182	0	49	1	9.787441e-01	4	17	0	49	2		0	0	0	0	0	2	1	1	59	179	0	48	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARSH	347527	broad.mit.edu	37	X	2933300	2933300	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H			34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)			TTTTCACTTCCTGGTACTCTA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000381130.2	1	1	hg19	CCDS35198.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	1	0	1	56	127	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	56	124	0	33	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARSH	347527	broad.mit.edu	37	X	2945456	2945456	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2945456G>T	ENST00000381130.2	+	7	1139	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H			34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)			GAGCCCACCAGCTTAATGGAC	0.522000																								0							SO:0001583	missense			ENST00000381130.2	1	1	hg19	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349061	0.41599	.	.	ENSG00000205667	ENST00000381130	D	0.99194	-5.54	3.4	3.4	0.38934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.99118	0.9696	M	0.78456	2.415	0.47994	D	0.99956	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.66056	D	0.02	.	14.2922	0.66286	0.0:0.0:1.0:0.0	.	380	Q5FYA8	ARSH_HUMAN	I	380	ENSP00000370522:S380I	ENSP00000370522:S380I	S	+	2	0	ARSH	2955456	1.000000	0.71417	0.009000	0.14445	0.010000	0.07245	7.968000	0.87980	1.328000	0.45358	0.596000	0.82720	AGC		TCGA-IB-7651-01A-11D-2154-08	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	1	0	1	47	300	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1	46	291	0	92	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999962	0.990000	1	9.900000e-01	1
IL1RAPL1	11141	broad.mit.edu	37	X	29935582	29935582	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:29935582T>C	ENST00000378993.1	+	7	1453	c.780T>C	c.(778-780)ggT>ggC	p.G260G	IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1			62					TCTCTGCAGGTGACTCTGCTA	0.358000																								0							SO:0001630	splice_region_variant			ENST00000378993.1	1	0	hg19	CCDS14218.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	0	0	1	32	126	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1	31	125	0	39	2								-19.934640	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PPP2R3B	28227	broad.mit.edu	37	X	301612	301612	+	Silent	SNP	G	G	A	rs142640052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:301612G>A	ENST00000390665.3	-	10	1257	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta			11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			AGAAGTACTCGAGCTCGAACA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000390665.3	1	1	hg19	CCDS14104.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	0	0	0	9	279	0	64	1	2.274622e-01	3	23	0	64	2		0	0	0	0	0	2	1	9.942362e-01	9	277	0	64	2								-2.946788	1	1	120772	73	51	1	0	1	1			0.170000	2.060000	1.700000e-01	0.380000	0.180000	0.650000	0.360000	0.398807	0.380000	0	2.700000e-01	5.200000e-01
MAGEB4	4115	broad.mit.edu	37	X	30261225	30261225	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30261225C>T	ENST00000378982.2	+	1	1169	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4			27					TGCAGCCAGGCGTGGCACTAC	0.517000																								0							SO:0001583	missense			ENST00000378982.2	1	1	hg19	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953177	0.18431	0.0	1.49E-4	ENSG00000120289	ENST00000378982	T	0.01821	4.62	3.14	0.282	0.15692	.	.	.	.	.	T	0.00906	0.0030	N	0.03608	-0.345	0.09310	N	1	D	0.59357	0.985	B	0.39503	0.301	T	0.53585	-0.8418	9	0.54805	T	0.06	.	5.9274	0.19120	0.0:0.2501:0.5807:0.1692	.	325	O15481	MAGB4_HUMAN	C	325	ENSP00000368266:R325C	ENSP00000368266:R325C	R	+	1	0	MAGEB4	30171146	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.192000	0.09587	-0.060000	0.13132	-0.355000	0.07637	CGT		TCGA-IB-7651-01A-11D-2154-08	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	1	0	1	68	224	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1	67	222	0	64	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARSF	416	broad.mit.edu	37	X	3030396	3030396	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3030396G>A	ENST00000381127.1	+	11	1793	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	ARSF_ENST00000359361.2_Silent_p.E524E|ARSF_ENST00000537104.1_Silent_p.E524E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F			38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			CTGCCACAGAGCCCCTCCATG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000381127.1	1	1	hg19	CCDS14123.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1	1	0	0	31	498	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1	31	481	0	126	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.680000	0.470000	0.940000	0.680000	0.701820	0.680000	0	5.700000e-01	8.200000e-01
NR0B1	190	broad.mit.edu	37	X	30327309	30327309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30327309G>A	ENST00000378970.4	-	1	406	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1			24				Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCACGTTCCGCCCGCCCAGC	0.662000																								0							SO:0001583	missense			ENST00000378970.4	1	1	hg19	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413147	0.25465	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97994	-3.82;-4.65	4.42	2.59	0.31030	.	0.761802	0.11469	N	0.560960	D	0.96485	0.8853	L	0.55990	1.75	0.09310	N	1	D	0.63880	0.993	P	0.47470	0.548	D	0.90554	0.4511	10	0.87932	D	0	-12.9497	10.0129	0.41997	0.0:0.0:0.634:0.366	.	58	P51843	NR0B1_HUMAN	W	58	ENSP00000368253:R58W;ENSP00000396403:R58W	ENSP00000368253:R58W	R	-	1	2	NR0B1	30237230	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	0.626000	0.24492	0.401000	0.25424	-0.371000	0.07208	CGG		TCGA-IB-7651-01A-11D-2154-08	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	1	0	1	21	137	0	28	0	9.485649e-02	0	4	0	28	2		0	0	0	0	0	2	1	9.999981e-01	20	135	0	27	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.998062	0.990000	1	9.900000e-01	1
CXorf21	80231	broad.mit.edu	37	X	30577645	30577645	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30577645C>T	ENST00000378962.3	-	3	1150	c.828G>A	c.(826-828)ttG>ttA	p.L276L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21			20					ACATCAATTGCAATAGGCGGC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000378962.3	1	1	hg19	CCDS14224.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	1	0	1	69	290	0	76	0	7.808640e-01	0	14	0	76	2		0	0	0	0	0	2	1	1	69	288	0	75	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GK	2710	broad.mit.edu	37	X	30686168	30686168	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30686168C>T	ENST00000378941.3	+	3	192	c.192C>T	c.(190-192)gtC>gtT	p.V64V	GK_ENST00000378945.3_Silent_p.V64V|GK_ENST00000378946.3_Silent_p.V64V|GK_ENST00000427190.1_5'UTR|GK_ENST00000378943.3_Silent_p.V64V			P32189	GLPK_HUMAN	glycerol kinase			4					TACATTCTGTCTATGAGTGTA	0.313000																								0							SO:0001819	synonymous_variant			ENST00000378941.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	GK-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000056171.1	1	0	1	41	159	0	67	1	9.043168e-01	5	13	0	67	2		0	0	0	0	0	2	1	1	40	157	0	71	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAB3	257397	broad.mit.edu	37	X	30872954	30872954	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30872954C>A	ENST00000378933.1	-	3	1005	c.828G>T	c.(826-828)caG>caT	p.Q276H	TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3			27					ACTGAGAAGGCTGATAGTTCT	0.522000													Pancreas(164;1598 1985 29022 43301 49529)											0							SO:0001583	missense			ENST00000378933.1	1	1	hg19	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.615977	0.28801	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.78816	-1.03;-1.03;-1.03;-1.21	4.92	-5.93	0.02254	.	0.000000	0.64402	D	0.000002	T	0.79610	0.4475	L	0.32530	0.975	0.36471	D	0.867261	D;D	0.64830	0.994;0.99	D;D	0.75484	0.986;0.969	T	0.80498	-0.1356	10	0.72032	D	0.01	-3.0975	18.21	0.89867	0.0:0.6435:0.0:0.3565	.	276;276	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	H	276	ENSP00000368215:Q276H;ENSP00000368212:Q276H;ENSP00000288422:Q276H;ENSP00000368214:Q276H	ENSP00000288422:Q276H	Q	-	3	2	TAB3	30782875	0.004000	0.15560	0.809000	0.32408	0.390000	0.30446	-1.953000	0.01526	-1.819000	0.01216	-0.415000	0.06103	CAG		TCGA-IB-7651-01A-11D-2154-08	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	1	0	1	26	142	0	50	1	9.567033e-01	8	23	0	50	2		0	0	0	0	0	2	1	9.999999e-01	26	136	0	49	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999866	0.990000	1	9.900000e-01	1
FTHL17	53940	broad.mit.edu	37	X	31089968	31089968	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31089968A>G	ENST00000359202.3	-	1	202	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	p.Y35N(2)		23					ATAGACAGGTACAGGTAGGAG	0.607000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000359202.3	1	1	hg19	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648995	0.47362	.	.	ENSG00000132446	ENST00000359202	D	0.86097	-2.07	3.55	-0.386	0.12466	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.142334	0.48767	D	0.000174	D	0.92851	0.7726	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84279	0.0493	10	0.87932	D	0	.	5.025	0.14379	0.4797:0.3485:0.0:0.1717	.	35	Q9BXU8	FHL17_HUMAN	H	35	ENSP00000368207:Y35H	ENSP00000368207:Y35H	Y	-	1	0	FTHL17	30999889	0.519000	0.26242	0.000000	0.03702	0.074000	0.17049	4.060000	0.57477	-0.165000	0.10908	0.437000	0.28790	TAC		TCGA-IB-7651-01A-11D-2154-08	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	1	0	1	52	425	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	1	51	419	0	128	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.970000	1.000000	1.000000	0.998126	0.990000	1	9.900000e-01	1
DMD	1756	broad.mit.edu	37	X	31525440	31525440	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31525440T>G	ENST00000357033.4	-	56	8554	c.8348A>C	c.(8347-8349)aAc>aCc	p.N2783T	DMD_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.N323T|DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000359836.1_Missense_Mutation_p.N323T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin			77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)			CCACTTGAAGTTCATGTTATC	0.398000																								0							SO:0001583	missense			ENST00000357033.4	1	1	hg19	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.78|12.78	2.042040|2.042040	0.35989|0.35989	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.39985	.|U	.|0.001213	T|T	0.71459|0.71459	0.3342|0.3342	M|M	0.78049|0.78049	2.395|2.395	0.42535|0.42535	D|D	0.993054|0.993054	.|B;P;D;B;B;P;P;P;B;B;P	.|0.65815	.|0.216;0.476;0.995;0.145;0.145;0.659;0.553;0.553;0.077;0.063;0.729	.|B;B;D;B;B;P;P;P;B;B;B	.|0.64506	.|0.31;0.1;0.926;0.111;0.111;0.607;0.466;0.466;0.063;0.037;0.413	T|T	0.74884|0.74884	-0.3512|-0.3512	5|10	.|0.52906	.|T	.|0.07	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2775;2783;2779;1442;1439;323;323;323;323;323;2660	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	D|T	511|2775;1442;1439;479;2779;2783;323;323;2783;2660;323;323;323	.|ENSP00000350765:N479T;ENSP00000367948:N2779T;ENSP00000354923:N2783T;ENSP00000352894:N323T;ENSP00000340057:N323T;ENSP00000367979:N323T;ENSP00000444119:N323T;ENSP00000417123:N323T	.|ENSP00000340057:N323T	E|N	-|-	3|2	2|0	DMD|DMD	31435361|31435361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.839000|3.839000	0.55835|0.55835	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	GAA|AAC		TCGA-IB-7651-01A-11D-2154-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1	77	205	0	76	0	1.858009e-01	0	3	0	76	2		0	0	0	0	0	2	1	1	74	203	0	75	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MXRA5	25878	broad.mit.edu	37	X	3235453	3235453	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3235453C>T	ENST00000217939.6	-	6	6423	c.6269G>A	c.(6268-6270)cGc>cAc	p.R2090H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5			157		all_lung(23;0.00031)|Lung NSC(23;0.000946)			CTGCGAGGGGCGGATCTGGGT	0.652000																								0							SO:0001583	missense			ENST00000217939.6	1	1	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	10.34	1.322750	0.23994	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68331	-0.32	3.63	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36815	U	0.002392	T	0.65995	0.2745	L	0.28014	0.82	0.09310	N	1	D	0.64830	0.994	P	0.58928	0.848	T	0.60058	-0.7337	10	0.56958	D	0.05	.	11.8444	0.52376	0.1766:0.8234:0.0:0.0	.	2090	Q9NR99	MXRA5_HUMAN	H	2090	ENSP00000217939:R2090H	ENSP00000217939:R2090H	R	-	2	0	MXRA5	3245453	0.911000	0.30947	0.008000	0.14137	0.065000	0.16274	2.716000	0.47219	0.386000	0.24997	0.597000	0.82753	CGC		TCGA-IB-7651-01A-11D-2154-08	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	1	22	66	0	23	1	1	60	136	0	23	2		0	0	0	0	0	2	1	9.999996e-01	22	65	0	23	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
MXRA5	25878	broad.mit.edu	37	X	3240577	3240577	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3240577G>T	ENST00000217939.6	-	5	3303	c.3149C>A	c.(3148-3150)aCt>aAt	p.T1050N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5			157		all_lung(23;0.00031)|Lung NSC(23;0.000946)			GGTGTCTTGAGTGCTTAGACT	0.443000																								0							SO:0001583	missense			ENST00000217939.6	1	1	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.939047	0.34189	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	3.29	3.29	0.37713	.	0.381301	0.18935	U	0.127103	T	0.55689	0.1936	L	0.32530	0.975	0.09310	N	1	P	0.50528	0.936	P	0.45343	0.477	T	0.51466	-0.8702	10	0.72032	D	0.01	.	7.2354	0.26067	0.2147:0.0:0.7853:0.0	.	1050	Q9NR99	MXRA5_HUMAN	N	1050	ENSP00000217939:T1050N	ENSP00000217939:T1050N	T	-	2	0	MXRA5	3250577	0.001000	0.12720	0.020000	0.16555	0.052000	0.14988	0.470000	0.22084	1.440000	0.47531	0.522000	0.50473	ACT		TCGA-IB-7651-01A-11D-2154-08	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	1	116	488	0	118	1	1	83	206	0	118	2		0	0	0	0	0	2	1	1	114	477	0	117	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MXRA5	25878	broad.mit.edu	37	X	3241106	3241106	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3241106G>T	ENST00000217939.6	-	5	2774	c.2620C>A	c.(2620-2622)Ctt>Att	p.L874I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5			157		all_lung(23;0.00031)|Lung NSC(23;0.000946)			GGTTCAACAAGAATAACTCCA	0.473000																								0							SO:0001583	missense			ENST00000217939.6	1	1	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	8.253	0.809339	0.16537	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.63	-2.77	0.05877	.	2.650130	0.01890	U	0.038484	T	0.40839	0.1133	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.13282	-1.0515	10	0.23891	T	0.37	.	2.7632	0.05313	0.0895:0.2756:0.3498:0.2851	.	874	Q9NR99	MXRA5_HUMAN	I	874	ENSP00000217939:L874I	ENSP00000217939:L874I	L	-	1	0	MXRA5	3251106	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.049000	0.03514	-0.353000	0.08224	-0.353000	0.07706	CTT		TCGA-IB-7651-01A-11D-2154-08	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	0	20	393	0	116	1	9.999932e-01	18	378	0	116	2		0	0	0	0	0	2	1	9.999946e-01	20	385	0	116	2								-4.904151	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.570000	0.360000	0.830000	0.560000	0.588175	0.570000	0	4.500000e-01	7.100000e-01
MXRA5	25878	broad.mit.edu	37	X	3242815	3242815	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3242815C>A	ENST00000217939.6	-	5	1065	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5			157		all_lung(23;0.00031)|Lung NSC(23;0.000946)			GATGAGCTGGCTGCCACCATC	0.507000																								0							SO:0001583	missense			ENST00000217939.6	0	1	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.216203	0.01542	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.08	-3.76	0.04359	.	0.975648	0.08345	U	0.960274	T	0.36303	0.0962	N	0.19112	0.55	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.11060	-1.0603	10	0.22109	T	0.4	.	0.9037	0.01280	0.1445:0.2477:0.2838:0.324	.	304	Q9NR99	MXRA5_HUMAN	I	304	ENSP00000217939:S304I	ENSP00000217939:S304I	S	-	2	0	MXRA5	3252815	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.229000	0.02945	-1.964000	0.01012	-0.544000	0.04233	AGC		TCGA-IB-7651-01A-11D-2154-08	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	0	0	0	10	294	0	60	1	9.928424e-01	12	242	0	60	2		0	0	0	0	0	2	1	9.968005e-01	9	291	0	60	2								-10.774100	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.390000	0.200000	0.660000	0.380000	0.416125	0.390000	0	2.800000e-01	5.300000e-01
MXRA5	25878	broad.mit.edu	37	X	3248806	3248806	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3248806C>T	ENST00000217939.6	-	3	351	c.197G>A	c.(196-198)aGc>aAc	p.S66N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5			157		all_lung(23;0.00031)|Lung NSC(23;0.000946)			GGCCTGTATGCTATTAAACCT	0.373000																								0							SO:0001583	missense			ENST00000217939.6	1	1	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619827	0.46736	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02323	4.34	3.81	2.94	0.34122	.	0.000000	0.43747	U	0.000527	T	0.04907	0.0132	N	0.10733	0.035	0.24320	N	0.995049	D	0.76494	0.999	D	0.72338	0.977	T	0.33979	-0.9847	10	0.87932	D	0	.	11.0229	0.47728	0.0:0.9039:0.0:0.0961	.	66	Q9NR99	MXRA5_HUMAN	N	66	ENSP00000217939:S66N	ENSP00000217939:S66N	S	-	2	0	MXRA5	3258806	0.994000	0.37717	0.034000	0.17996	0.737000	0.42083	2.643000	0.46604	0.589000	0.29677	0.509000	0.49947	AGC		TCGA-IB-7651-01A-11D-2154-08	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	0	28	102	0	30	1	1	38	109	0	30	2		0	0	0	0	0	2	1	1	28	97	0	30	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
MXRA5	25878	broad.mit.edu	37	X	3261761	3261761	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3261761C>A	ENST00000217939.6	-	2	268	c.114G>T	c.(112-114)gaG>gaT	p.E38D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5			157		all_lung(23;0.00031)|Lung NSC(23;0.000946)			TGCAGTGGACCTCGCTGGGGA	0.617000																								0							SO:0001583	missense			ENST00000217939.6	1	1	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266769	0.59540	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02606	4.23	3.17	-0.504	0.11997	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.38436	U	0.001690	T	0.07234	0.0183	L	0.41632	1.29	0.24000	N	0.996212	D	0.76494	0.999	D	0.73708	0.981	T	0.08046	-1.0741	10	0.72032	D	0.01	.	9.8629	0.41125	0.0:0.523:0.0:0.477	.	38	Q9NR99	MXRA5_HUMAN	D	38	ENSP00000217939:E38D	ENSP00000217939:E38D	E	-	3	2	MXRA5	3271761	0.981000	0.34729	0.993000	0.49108	0.783000	0.44284	0.003000	0.13083	-0.114000	0.11936	0.506000	0.49869	GAG		TCGA-IB-7651-01A-11D-2154-08	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	1	0	1	44	136	0	29	1	1	38	110	0	29	2		0	0	0	0	0	2	1	1	44	135	0	29	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMD	1756	broad.mit.edu	37	X	32827617	32827617	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32827617A>G	ENST00000357033.4	-	7	848	c.642T>C	c.(640-642)gaT>gaC	p.D214D	DMD_ENST00000288447.4_Silent_p.D206D|DMD_ENST00000378677.2_Silent_p.D210D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin			77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)			AACCTTCAGGATCGAGTAGTT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000357033.4	1	1	hg19	CCDS14233.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	0	0	68	233	0	93	0	2.243637e-01	0	4	0	93	2		0	0	0	0	0	2	1	1	65	228	0	93	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMD	1756	broad.mit.edu	37	X	32834629	32834629	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32834629G>T	ENST00000357033.4	-	6	692	c.486C>A	c.(484-486)agC>agA	p.S162R	DMD_ENST00000288447.4_Missense_Mutation_p.S154R|DMD_ENST00000378677.2_Missense_Mutation_p.S158R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin			77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)			CATCAGACCAGCTGGTGGTGA	0.408000																								0							SO:0001583	missense			ENST00000357033.4	1	1	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740766	0.69304	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95342	-3.68;-3.68;-3.68	5.51	3.75	0.43078	Calponin homology domain (5);	0.000000	0.44285	U	0.000464	D	0.97873	0.9301	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.999;1.0;0.998;1.0	P;D;D;D;D	0.91635	0.89;0.959;0.999;0.977;0.999	D	0.96914	0.9669	10	0.87932	D	0	.	9.1509	0.36962	0.2268:0.0:0.7732:0.0	.	162;154;154;162;158	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	R	154;158;162;162;39;154	ENSP00000367948:S158R;ENSP00000354923:S162R;ENSP00000288447:S154R	ENSP00000288447:S154R	S	-	3	2	DMD	32744550	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.819000	0.69243	0.515000	0.28320	-0.912000	0.02778	AGC		TCGA-IB-7651-01A-11D-2154-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1	124	299	0	118	0	8.658508e-02	0	2	0	118	2		0	0	0	0	0	2	1	1	121	296	0	117	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DMD	1756	broad.mit.edu	37	X	32841471	32841471	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32841471C>T	ENST00000357033.4	-	5	504	c.298G>A	c.(298-300)Gta>Ata	p.V100I	DMD_ENST00000288447.4_Missense_Mutation_p.V92I|DMD_ENST00000378677.2_Missense_Mutation_p.V96I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin			77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)			TTTCCATCTACGATGTCAGTA	0.343000																								0							SO:0001583	missense			ENST00000357033.4	1	1	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931665	0.92389	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.68	5.68	0.88126	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.33457	U	0.004883	D	0.97723	0.9253	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	0.997;0.996;1.0;0.997	P;P;D;P	0.85130	0.732;0.612;0.997;0.732	D	0.98391	1.0563	10	0.87932	D	0	.	18.8699	0.92309	0.0:1.0:0.0:0.0	.	92;92;100;96	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	92;96;100;100;92;63	ENSP00000367948:V96I;ENSP00000354923:V100I;ENSP00000288447:V92I;ENSP00000395904:V63I	ENSP00000288447:V92I	V	-	1	0	DMD	32751392	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.403000	0.81681	0.523000	0.50628	GTA		TCGA-IB-7651-01A-11D-2154-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1	86	299	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1	84	295	0	108	2								-20.000000	1	1	121406	2	40	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM47B	170062	broad.mit.edu	37	X	34961295	34961295	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961295C>T	ENST00000329357.5	+	1	383	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B			71					GCACGGAAGGCGTTCGTAGAG	0.542000																								0							SO:0001583	missense			ENST00000329357.5	1	1	hg19	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822692	0.16678	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	0.843	0.18935	.	.	.	.	.	T	0.14917	0.0360	L	0.38953	1.18	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.21177	-1.0253	9	0.45353	T	0.12	.	7.2872	0.26346	0.0:0.9999:0.0:1.0E-4	.	116	Q8NA70	FA47B_HUMAN	V	116	ENSP00000328307:A116V	ENSP00000328307:A116V	A	+	2	0	FAM47B	34871216	0.002000	0.14202	0.016000	0.15963	0.006000	0.05464	0.074000	0.14662	0.695000	0.31675	0.292000	0.19580	GCG		TCGA-IB-7651-01A-11D-2154-08	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	1	0	1	107	373	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1	102	364	0	112	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM47B	170062	broad.mit.edu	37	X	34961432	34961432	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961432G>A	ENST00000329357.5	+	1	520	c.484G>A	c.(484-486)Gct>Act	p.A162T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B			71					GCTGGAGGACGCTTGGGCTCG	0.587000																								0							SO:0001583	missense			ENST00000329357.5	1	1	hg19	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.570869	0.00133	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	-1.69	0.08186	.	.	.	.	.	T	0.08403	0.0209	N	0.17922	0.545	0.09310	N	1	B	0.18741	0.03	B	0.16722	0.016	T	0.38499	-0.9658	9	0.02654	T	1	.	2.5263	0.04692	0.3189:0.0:0.4299:0.2512	.	162	Q8NA70	FA47B_HUMAN	T	162	ENSP00000328307:A162T	ENSP00000328307:A162T	A	+	1	0	FAM47B	34871353	0.008000	0.16893	0.007000	0.13788	0.001000	0.01503	-0.704000	0.05058	-1.178000	0.02741	-1.891000	0.00535	GCT		TCGA-IB-7651-01A-11D-2154-08	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	1	0	1	54	190	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	53	185	0	55	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820491A>C	ENST00000399989.1	+	2	457	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16			31					TAAGGCAGAGAGTCCTCTTGA	0.532000																								0							SO:0001583	missense			ENST00000399989.1	1	1	hg19	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949479	0.18356	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	3.13	1.92	0.25849	Melanoma associated antigen, MAGE, N-terminal (1);	2.483160	0.01875	N	0.037471	T	0.13372	0.0324	L	0.53561	1.675	0.09310	N	1	B	0.32324	0.364	B	0.37943	0.261	T	0.30387	-0.9980	10	0.56958	D	0.05	.	5.7376	0.18075	0.7239:0.2761:0.0:0.0	.	60	A2A368	MAGBG_HUMAN	R	60;92;60;60;60	ENSP00000382870:S60R;ENSP00000382874:S92R;ENSP00000382869:S60R;ENSP00000382871:S60R;ENSP00000382867:S60R	ENSP00000382867:S60R	S	+	1	0	MAGEB16	35730412	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.012000	0.12699	0.444000	0.26612	0.423000	0.28283	AGT		TCGA-IB-7651-01A-11D-2154-08	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1	1	0	1	18	66	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999899e-01	17	65	0	31	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999946	0.990000	1	9.900000e-01	1
MAGEB16	139604	broad.mit.edu	37	X	35820969	35820969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820969G>A	ENST00000399989.1	+	2	935	c.656G>A	c.(655-657)cGt>cAt	p.R219H	MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16			31					AAGGGCAACCGTGCCACTGAA	0.507000																								0							SO:0001583	missense			ENST00000399989.1	1	1	hg19	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271307	0.10349	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	3.13	1.28	0.21552	.	1.580770	0.03543	N	0.224295	T	0.04452	0.0122	L	0.41236	1.265	0.23036	N	0.998394	B	0.29531	0.247	B	0.25291	0.059	T	0.42732	-0.9434	10	0.12766	T	0.61	.	3.3475	0.07141	0.1447:0.0:0.6028:0.2526	.	219	A2A368	MAGBG_HUMAN	H	219;251;219;219;219	ENSP00000382870:R219H;ENSP00000382874:R251H;ENSP00000382869:R219H;ENSP00000382871:R219H;ENSP00000382867:R219H	ENSP00000382867:R219H	R	+	2	0	MAGEB16	35730890	0.000000	0.05858	0.836000	0.33094	0.001000	0.01503	-0.306000	0.08178	0.225000	0.20959	-0.367000	0.07326	CGT		TCGA-IB-7651-01A-11D-2154-08	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1	1	0	1	68	194	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1	68	188	0	85	2								-20.000000	1	1	121354	1	26	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CXorf22	170063	broad.mit.edu	37	X	35969425	35969425	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35969425G>T	ENST00000297866.5	+	5	900	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22			44					ATAGCCCAGAGCCCATAAATT	0.413000																								0							SO:0001583	missense			ENST00000297866.5	1	1	hg19	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600097	0.28534	.	.	ENSG00000165164	ENST00000297866	T	0.15603	2.41	5.76	3.29	0.37713	.	0.485709	0.24033	N	0.042164	T	0.17746	0.0426	M	0.62723	1.935	0.23594	N	0.997333	P	0.41080	0.737	P	0.45167	0.472	T	0.08576	-1.0715	10	0.18710	T	0.47	-30.4234	3.1986	0.06641	0.547:0.0:0.2782:0.1748	.	278	Q6ZTR5	CX022_HUMAN	D	278	ENSP00000297866:E278D	ENSP00000297866:E278D	E	+	3	2	CXorf22	35879346	0.979000	0.34478	0.688000	0.30117	0.437000	0.31866	2.190000	0.42630	0.807000	0.34208	-0.503000	0.04515	GAG		TCGA-IB-7651-01A-11D-2154-08	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	1	0	1	41	129	0	42	0	0	1	0	0	42	2		0	0	0	0	0	2	1	1	40	128	0	42	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CXorf22	170063	broad.mit.edu	37	X	35989849	35989849	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35989849G>A	ENST00000297866.5	+	12	2183	c.2117G>A	c.(2116-2118)aGg>aAg	p.R706K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22			44					TTAACCACCAGGGGTATAGCA	0.423000																								0							SO:0001583	missense			ENST00000297866.5	1	1	hg19	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	5.452	0.268478	0.10349	.	.	ENSG00000165164	ENST00000297866	T	0.13196	2.61	5.84	-2.93	0.05598	.	0.684196	0.15211	N	0.274441	T	0.08088	0.0202	L	0.45581	1.43	0.09310	N	1	B	0.23377	0.084	B	0.18561	0.022	T	0.46261	-0.9204	10	0.02654	T	1	-2.1449	7.5875	0.28002	0.5459:0.1236:0.3305:0.0	.	706	Q6ZTR5	CX022_HUMAN	K	706	ENSP00000297866:R706K	ENSP00000297866:R706K	R	+	2	0	CXorf22	35899770	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.330000	0.19715	-0.666000	0.05310	-0.191000	0.12829	AGG		TCGA-IB-7651-01A-11D-2154-08	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	1	0	0	15	297	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	9.998559e-01	13	292	0	58	2								-3.088338	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.570000	0.330000	0.870000	0.560000	0.589682	0.570000	0	4.400000e-01	7.300000e-01
CXorf22	170063	broad.mit.edu	37	X	35993429	35993429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35993429G>A	ENST00000297866.5	+	14	2486	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22			44					CCTACATCCAGTACTTATATT	0.333000																								0							SO:0001583	missense			ENST00000297866.5	1	1	hg19	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717373	0.03182	.	.	ENSG00000165164	ENST00000297866	T	0.14391	2.51	5.3	0.859	0.19036	.	0.769651	0.13053	N	0.417491	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.32161	-0.9917	10	0.27785	T	0.31	-8.6299	4.7877	0.13232	0.3926:0.1574:0.45:0.0	.	807	Q6ZTR5	CX022_HUMAN	N	807	ENSP00000297866:S807N	ENSP00000297866:S807N	S	+	2	0	CXorf22	35903350	1.000000	0.71417	0.043000	0.18650	0.022000	0.10575	1.390000	0.34464	0.088000	0.17205	0.544000	0.68410	AGT		TCGA-IB-7651-01A-11D-2154-08	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	1	0	1	54	218	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1	54	211	0	96	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM47C	442444	broad.mit.edu	37	X	37028071	37028071	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37028071C>T	ENST00000358047.3	+	1	1640	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C			120					TCCCAAGATTCTGGTGTCCAG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000358047.3	1	1	hg19	CCDS35227.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	1	0	1	175	496	0	208		0	0	0	0	208	2		0	0	0	0	0	2	1	1	169	486	0	203	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SRPX	8406	broad.mit.edu	37	X	38020292	38020292	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38020292G>A	ENST00000378533.3	-	6	775	c.669C>T	c.(667-669)ggC>ggT	p.G223G	SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000432886.2_Silent_p.G164G|SRPX_ENST00000544439.1_Silent_p.G203G|SRPX_ENST00000343800.6_Silent_p.G210G|SRPX_ENST00000479015.1_5'Flank|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked			25					CTGGGGGGAGGCCTTTTAGAA	0.438000																								0							SO:0001819	synonymous_variant			ENST00000378533.3	1	1	hg19	CCDS14245.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	1	0	1	36	300	0	84	1	9.987398e-01	2	85	0	84	2		0	0	0	0	0	2	1	1	36	294	0	84	2								-20.000000	1	1	121406	2	27	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.900000	1.000000	1.000000	0.994287	0.990000	1	9.900000e-01	1
MID1IP1	58526	broad.mit.edu	37	X	38664233	38664233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38664233C>T	ENST00000336949.6	+	2	979	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y|MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1			7					CAACCAGAAGCACTCGCTCTT	0.627000																								0							SO:0001583	missense			ENST00000336949.6	1	1	hg19	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138881	0.37728	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.194465	0.42172	D	0.000750	T	0.50837	0.1639	L	0.29908	0.895	0.45390	D	0.998374	B	0.22080	0.064	B	0.18263	0.021	T	0.49173	-0.8967	9	0.40728	T	0.16	-8.7866	15.3016	0.73955	0.0:1.0:0.0:0.0	.	12	Q9NPA3	M1IP1_HUMAN	Y	12	.	ENSP00000338706:H12Y	H	+	1	0	MID1IP1	38549177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.475000	0.60210	2.116000	0.64780	0.529000	0.55759	CAC		TCGA-IB-7651-01A-11D-2154-08	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1	1	0	1	43	196	0	48	1	9.999999e-01	55	68	0	48	2		0	0	0	0	0	2	1	1	42	195	0	48	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BCOR	54880	broad.mit.edu	37	X	39931785	39931785	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39931785G>T	ENST00000378444.4	-	4	3042	c.2814C>A	c.(2812-2814)acC>acA	p.T938T	BCOR_ENST00000342274.4_Silent_p.T938T|BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	p.Y939fs*7(1)		126					CTTTGGTATAGGTGGGGGTCA	0.507000			F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic								Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		1	Insertion - Frameshift(1)						SO:0001819	synonymous_variant			ENST00000378444.4	1	1	hg19	CCDS48093.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	1	0	1	29	208	0	46	1	9.997904e-01	35	62	0	46	2		0	0	0	0	0	2	1	1	28	205	0	46	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.998196	0.990000	1	9.900000e-01	1
BCOR	54880	broad.mit.edu	37	X	39937186	39937186	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39937186G>A	ENST00000378444.4	-	0	225				BCOR_ENST00000342274.4_De_novo_Start_OutOfFrame|BCOR_ENST00000397354.3_De_novo_Start_OutOfFrame|BCOR_ENST00000378455.4_De_novo_Start_OutOfFrame	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor			126					AGAGCATGTCGTCTTCTGGGA	0.532000			F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic								Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0											ENST00000378444.4	0	1	hg19	CCDS48093.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	0	0	0	71	229	0	91	1	9.991287e-01	19	18	0	91	2		0	0	0	0	0	2	1	1	70	224	0	88	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED14	9282	broad.mit.edu	37	X	40522271	40522271	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40522271C>T	ENST00000324817.1	-	26	3708	c.3590G>A	c.(3589-3591)gGc>gAc	p.G1197D		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14			39					ACCTGCCAGGCCGGGCACAAG	0.498000																								0							SO:0001583	missense			ENST00000324817.1	1	1	hg19	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009936	0.54361	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.54071	0.59;0.59	5.59	5.59	0.84812	.	0.048785	0.85682	D	0.000000	T	0.47838	0.1467	L	0.36672	1.1	0.80722	D	1	P;P	0.45348	0.856;0.856	B;B	0.43623	0.425;0.425	T	0.52403	-0.8580	10	0.66056	D	0.02	.	14.2586	0.66070	0.0:0.8553:0.1447:0.0	.	1197;1197	A8KAK5;O60244	.;MED14_HUMAN	D	1197;96	ENSP00000323720:G1197D;ENSP00000411357:G96D	ENSP00000323720:G1197D	G	-	2	0	MED14	40407215	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	5.696000	0.68287	2.353000	0.79882	0.529000	0.55759	GGC		TCGA-IB-7651-01A-11D-2154-08	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	1	0	1	31	113	0	47	1	1	59	52	0	47	2		0	0	0	0	0	2	1	1	29	110	0	47	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED14	9282	broad.mit.edu	37	X	40586068	40586068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40586068C>T	ENST00000324817.1	-	3	396	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14			39					GAAGAGTTGGCGTGTCCGGCT	0.323000																								0							SO:0001583	missense			ENST00000324817.1	1	1	hg19	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573841	0.86542	.	.	ENSG00000180182	ENST00000324817	.	.	.	4.98	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77205	-0.2673	9	0.54805	T	0.06	.	12.429	0.55563	0.0:0.9145:0.0:0.0855	.	93	O60244	MED14_HUMAN	H	93	.	ENSP00000323720:R93H	R	-	2	0	MED14	40471012	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.314000	0.78988	0.993000	0.38866	-0.268000	0.10319	CGC		TCGA-IB-7651-01A-11D-2154-08	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	1	0	1	36	173	0	40	1	9.973565e-01	27	19	0	40	2		0	0	0	0	0	2	1	1	36	170	0	40	2								-3.400614	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
USP9X	8239	broad.mit.edu	37	X	41000309	41000309	+	Silent	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41000309A>G	ENST00000324545.8	+	8	1494	c.861A>G	c.(859-861)gaA>gaG	p.E287E	USP9X_ENST00000378308.2_Silent_p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked			87					AGTTTTTAGAAAACTTAACTG	0.318000													Ovarian(172;1807 2695 35459 49286)											0							SO:0001819	synonymous_variant			ENST00000324545.8	1	1	hg19	CCDS43930.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	1	0	1	22	84	0	31	1	9.999882e-01	23	56	0	31	2		0	0	0	0	0	2	1	9.999995e-01	22	84	0	31	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999984	0.990000	1	9.900000e-01	1
USP9X	8239	broad.mit.edu	37	X	41031200	41031200	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41031200T>G	ENST00000324545.8	+	21	3770	c.3137T>G	c.(3136-3138)cTt>cGt	p.L1046R	USP9X_ENST00000378308.2_Missense_Mutation_p.L1046R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked			87					CTTATGAAACTTATGCCGCCA	0.393000													Ovarian(172;1807 2695 35459 49286)											0							SO:0001583	missense			ENST00000324545.8	0	1	hg19	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130005	0.77549	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.04706	3.57;3.57	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.70595	2.14	0.80722	D	1	D;P	0.56287	0.975;0.911	P;P	0.55824	0.785;0.53	T	0.00763	-1.1576	10	0.41790	T	0.15	.	14.4484	0.67367	0.0:0.0:0.0:1.0	.	1046;1046	Q93008-1;Q93008	.;USP9X_HUMAN	R	1046	ENSP00000367558:L1046R;ENSP00000316357:L1046R	ENSP00000316357:L1046R	L	+	2	0	USP9X	40916144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.673000	0.83973	1.791000	0.52520	0.481000	0.45027	CTT		TCGA-IB-7651-01A-11D-2154-08	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	0	0	0	14	503	0	125	1	8.468906e-01	3	121	0	125	2		0	0	0	0	0	2	1	9.997279e-01	14	494	0	122	2								-3.108004	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.320000	0.180000	0.510000	0.320000	0.336802	0.320000	0	2.400000e-01	4.200000e-01
USP9X	8239	broad.mit.edu	37	X	41075627	41075627	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41075627G>A	ENST00000324545.8	+	35	6440	c.5807G>A	c.(5806-5808)cGt>cAt	p.R1936H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked			87					ATGATGAAGCGTATGTCATAC	0.373000													Ovarian(172;1807 2695 35459 49286)											0							SO:0001583	missense			ENST00000324545.8	1	1	hg19	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668534	0.88348	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03413	3.94;3.94	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	M	0.77313	2.365	0.80722	D	1	D;P	0.89917	1.0;0.65	D;B	0.65233	0.933;0.372	T	0.00134	-1.2009	10	0.48119	T	0.1	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1936;1936	Q93008-1;Q93008	.;USP9X_HUMAN	H	1936	ENSP00000367558:R1936H;ENSP00000316357:R1936H	ENSP00000316357:R1936H	R	+	2	0	USP9X	40960571	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.465000	0.97660	2.439000	0.82584	0.544000	0.68410	CGT		TCGA-IB-7651-01A-11D-2154-08	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	0	0	1	144	521	1	148	1	1	59	124	1	148	7		0	0	0	0	0	2	1	1	142	513	1	147	16								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DDX3X	1654	broad.mit.edu	37	X	41204512	41204512	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41204512A>G	ENST00000399959.2	+	11	1960	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked			84					CGAACAAGATACTATGCCTCC	0.378000										HNSCC(61;0.18)														0							SO:0001583	missense			ENST00000399959.2	1	1	hg19	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	a	15.73	2.920645	0.52653	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.16897	2.31;2.31	5.37	5.37	0.77165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.10874	0.06	0.80722	D	1	B;B;B;B	0.10296	0.003;0.002;0.001;0.001	B;B;B;B	0.15052	0.012;0.008;0.012;0.012	T	0.11767	-1.0574	10	0.36615	T	0.2	-5.5069	14.5265	0.67892	1.0:0.0:0.0:0.0	.	369;353;381;369	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	A	369;353	ENSP00000382840:T369A;ENSP00000392494:T353A	ENSP00000382840:T369A	T	+	1	0	DDX3X	41089456	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.520000	0.81821	1.810000	0.52873	0.427000	0.28365	ACT		TCGA-IB-7651-01A-11D-2154-08	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	1	0	1	143	443	0	111	1	1	321	293	0	111	2		0	0	0	0	0	2	1	1	141	433	0	111	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NYX	60506	broad.mit.edu	37	X	41333654	41333654	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41333654G>A	ENST00000342595.2	+	2	1404	c.948G>A	c.(946-948)gtG>gtA	p.V316V	NYX_ENST00000378220.1_Silent_p.V316V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin			17					GCCTCACCGTGCTCGCCTGGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000342595.2	1	1	hg19	CCDS14256.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	1	0	1	99	265	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1	97	261	0	63	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CASK	8573	broad.mit.edu	37	X	41437686	41437686	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41437686G>A	ENST00000378163.1	-	15	1884	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000318588.9_Silent_p.G470G|CASK_ENST00000442742.2_Silent_p.G470G|CASK_ENST00000378158.1_Silent_p.G470G			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)			32					CTGGAGAATCGCCGTTTAAAT	0.463000													NSCLC(42;104 1086 3090 27189 35040)											0							SO:0001819	synonymous_variant			ENST00000378163.1	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	1	0	1	30	256	0	49	1	9.999565e-01	37	98	0	49	2		0	0	0	0	0	2	1	1	29	253	0	48	2								-3.318798	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.850000	1.000000	1.000000	0.989878	0.990000	1	9.900000e-01	1
NDP	4693	broad.mit.edu	37	X	43817734	43817734	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:43817734T>C	ENST00000378062.5	-	2	565	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)			3					GCTACACTTGTACAATGGGTG	0.473000																								0							SO:0001583	missense			ENST00000378062.5	1	1	hg19	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700482	0.68501	.	.	ENSG00000124479	ENST00000378062	D	0.90676	-2.71	5.98	5.98	0.97165	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.92428	0.5951	10	0.72032	D	0.01	-29.3628	15.3225	0.74132	0.0:0.0:0.0:1.0	.	53	Q00604	NDP_HUMAN	C	53	ENSP00000367301:Y53C	ENSP00000367301:Y53C	Y	-	2	0	NDP	43702678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.263000	0.78421	2.002000	0.58637	0.486000	0.48141	TAC		TCGA-IB-7651-01A-11D-2154-08	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	1	0	1	95	339	0	111	0	3.938588e-01	0	6	0	111	2		0	0	0	0	0	2	1	1	95	337	0	111	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CXorf36	79742	broad.mit.edu	37	X	45059910	45059910	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:45059910G>A	ENST00000398000.2	-	1	236	c.162C>T	c.(160-162)ttC>ttT	p.F54F	CXorf36_ENST00000377934.4_Silent_p.F54F|RP11-342D14.1_ENST00000450527.1_RNA|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36			7					CAAGACCGAGGAAAGTCCTTC	0.428000																								0							SO:0001819	synonymous_variant			ENST00000398000.2	1	1	hg19	CCDS48096.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	1	0	1	69	257	0	71	0	9.845845e-01	0	27	0	71	2		0	0	0	0	0	2	1	1	69	254	0	69	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC9A7	84679	broad.mit.edu	37	X	46480434	46480434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:46480434G>T	ENST00000328306.4	-	15	1823	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7			21					CTGTACCACAGCCTGAATATC	0.463000													Pancreas(118;454 1696 1930 13865 39976)											0							SO:0001583	missense			ENST00000328306.4	1	1	hg19	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	g	7.689	0.690640	0.15039	.	.	ENSG00000065923	ENST00000328306	T	0.46063	0.88	5.34	4.48	0.54585	.	0.149626	0.45361	D	0.000364	T	0.27454	0.0674	L	0.35341	1.055	0.38746	D	0.953991	B	0.24618	0.107	B	0.19946	0.027	T	0.14448	-1.0472	10	0.33940	T	0.23	.	5.0467	0.14487	0.1844:0.1684:0.6471:0.0	.	600	Q96T83	SL9A7_HUMAN	M	600	ENSP00000330320:L600M	ENSP00000330320:L600M	L	-	1	2	SLC9A7	46365378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.914000	0.28624	1.234000	0.43709	0.597000	0.82753	CTG		TCGA-IB-7651-01A-11D-2154-08	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	1	0	1	34	83	0	23	1	9.962861e-01	13	12	0	23	2		0	0	0	0	0	2	1	1	33	82	0	23	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RBM10	8241	broad.mit.edu	37	X	47039844	47039844	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47039844G>A	ENST00000377604.3	+	12	1929	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	p.R396H(1)		48					GAAGGCAGTCGCATCAGTGCT	0.627000													Melanoma(171;120 2705 19495 39241)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000377604.3	1	1	hg19	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537587	0.65085	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20463	2.74;2.07;2.33	2.92	2.92	0.33932	.	0.074216	0.53938	D	0.000050	T	0.39091	0.1065	M	0.62723	1.935	0.34688	D	0.725429	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.994;0.999	T	0.50642	-0.8804	10	0.37606	T	0.19	-11.582	11.024	0.47734	0.0:0.0:1.0:0.0	.	319;461;395;318;396	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	396;318;319	ENSP00000366829:R396H;ENSP00000328848:R318H;ENSP00000329659:R319H	ENSP00000328848:R318H	R	+	2	0	RBM10	46924788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.112000	0.94314	1.724000	0.51502	0.525000	0.51046	CGC		TCGA-IB-7651-01A-11D-2154-08	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	1	0	1	27	104	0	37	1	9.999936e-01	37	44	0	37	2	1	9.999947e-01	28	99	1	156	5	1	1	27	101	0	37	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
UBA1	7317	broad.mit.edu	37	X	47058959	47058959	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47058959G>A	ENST00000335972.6	+	5	609	c.426G>A	c.(424-426)gtG>gtA	p.V142V	UBA1_ENST00000377351.4_Silent_p.V142V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1			31					ACAGCTATGTGCCTGTCACTG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000335972.6	1	1	hg19	CCDS14275.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	1	0	1	154	545	0	146	1	1	306	306	0	146	2		0	0	0	0	0	2	1	1	151	541	0	141	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UBA1	7317	broad.mit.edu	37	X	47065399	47065399	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47065399T>C	ENST00000335972.6	+	15	1811	c.1628T>C	c.(1627-1629)aTc>aCc	p.I543T	UBA1_ENST00000490869.1_Intron|UBA1_ENST00000377351.4_Missense_Mutation_p.I543T|UBA1_ENST00000377269.3_5'Flank|INE1_ENST00000456273.1_RNA	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1			31					AATCCACATATCCGGGTGACA	0.522000																								0							SO:0001583	missense			ENST00000335972.6	0	1	hg19	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253058	0.59212	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.46819	0.86;0.86	4.63	4.63	0.57726	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.259842	0.38720	N	0.001585	T	0.49338	0.1551	L	0.55990	1.75	0.80722	D	1	B	0.31256	0.316	B	0.39339	0.297	T	0.54357	-0.8306	10	0.72032	D	0.01	-20.5189	12.3933	0.55370	0.0:0.0:0.0:1.0	.	543	P22314	UBA1_HUMAN	T	543	ENSP00000366568:I543T;ENSP00000338413:I543T	ENSP00000338413:I543T	I	+	2	0	UBA1	46950343	0.983000	0.35010	0.849000	0.33467	0.954000	0.61252	7.959000	0.87885	1.630000	0.50440	0.483000	0.47432	ATC		TCGA-IB-7651-01A-11D-2154-08	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	1	0	1	7	74	0	20	1	1	82	730	0	20	2		0	0	0	0	0	2	1	9.765420e-01	7	68	0	20	2								-12.937420	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.470000	1.000000	1.000000	0.892818	0.990000	1	7.100000e-01	1
USP11	8237	broad.mit.edu	37	X	47103898	47103898	+	Splice_Site	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103898C>T	ENST00000218348.3	+	14	1921	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	USP11_ENST00000377107.2_Splice_Site_p.R598C	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11			40					CTGTTGCAGACGCTACGTGAC	0.542000																								0							SO:0001630	splice_region_variant			ENST00000218348.3	1	0	hg19	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651027	0.67472	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.26067	1.78;1.76	3.91	3.91	0.45181	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.239380	0.34853	N	0.003627	T	0.32704	0.0838	M	0.75884	2.315	0.52099	D	0.999941	P;P	0.43542	0.81;0.5	B;B	0.43701	0.428;0.096	T	0.25257	-1.0137	10	0.87932	D	0	-18.5693	10.4162	0.44322	0.0:1.0:0.0:0.0	.	368;641	B3KP28;P51784	.;UBP11_HUMAN	C	598;641	ENSP00000366311:R598C;ENSP00000218348:R641C	ENSP00000218348:R641C	R	+	1	0	USP11	46988842	0.997000	0.39634	0.996000	0.52242	0.955000	0.61496	1.207000	0.32333	2.217000	0.71921	0.600000	0.82982	CGC		TCGA-IB-7651-01A-11D-2154-08	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	37	174	0	42	1	1	22	175	0	42	2		0	0	0	0	0	2	1	1	36	172	0	41	2								-19.966870	1	0	121410	2	27	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
USP11	8237	broad.mit.edu	37	X	47103933	47103933	+	Missense_Mutation	SNP	C	C	A	rs143527670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103933C>A	ENST00000218348.3	+	14	1956	c.1956C>A	c.(1954-1956)gaC>gaA	p.D652E	USP11_ENST00000377107.2_Missense_Mutation_p.D609E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11			40					ATGATGAGGACGATGGGGATG	0.567000																								0							SO:0001583	missense			ENST00000218348.3	1	1	hg19	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	1.752	-0.488887	0.04352	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19806	2.13;2.12	5.29	-10.6	0.00265	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.135832	0.33496	N	0.004844	T	0.08088	0.0202	N	0.17082	0.46	0.19945	N	0.999943	B;B	0.30511	0.011;0.282	B;B	0.25506	0.061;0.057	T	0.08330	-1.0727	10	0.11182	T	0.66	-11.0471	15.5878	0.76499	0.0787:0.6963:0.0:0.225	.	379;652	B3KP28;P51784	.;UBP11_HUMAN	E	609;652	ENSP00000366311:D609E;ENSP00000218348:D652E	ENSP00000218348:D652E	D	+	3	2	USP11	46988877	0.001000	0.12720	0.049000	0.19019	0.845000	0.48019	-4.332000	0.00251	-3.730000	0.00114	-1.851000	0.00568	GAC		TCGA-IB-7651-01A-11D-2154-08	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1	38	180	0	46	1	1	42	175	0	46	2		0	0	0	0	0	2	1	1	39	176	0	46	2								-19.989790	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
ZNF41	7592	broad.mit.edu	37	X	47307548	47307548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307548G>A	ENST00000377065.4	-	5	2260	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41			24		all_lung(315;0.000129)			GTTTTCTGGTGTTTAATGAGA	0.413000																								0							SO:0001583	missense			ENST00000377065.4	1	1	hg19	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005915	0.54254	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.86769	-2.17;-2.17;-2.17	3.98	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37219	N	0.002200	D	0.94450	0.8214	H	0.95816	3.725	0.25229	N	0.989845	P;P;D;P;P	0.89917	0.635;0.635;1.0;0.817;0.848	B;B;D;B;P	0.83275	0.175;0.175;0.996;0.239;0.485	D	0.87312	0.2312	10	0.87932	D	0	.	8.9846	0.35986	0.115:0.0:0.885:0.0	.	541;543;551;575;583	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Y	541;541;551	ENSP00000315173:H541Y;ENSP00000366265:H541Y;ENSP00000380243:H551Y	ENSP00000315173:H541Y	H	-	1	0	ZNF41	47192492	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.789000	0.75110	1.035000	0.39972	0.600000	0.82982	CAC		TCGA-IB-7651-01A-11D-2154-08	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	1	0	1	80	308	0	91	1	9.879284e-01	11	18	0	91	2		0	0	0	0	0	2	1	1	79	299	0	91	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF41	7592	broad.mit.edu	37	X	47307946	47307946	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307946T>G	ENST00000377065.4	-	5	1862	c.1223A>C	c.(1222-1224)gAg>gCg	p.E408A	ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41			24		all_lung(315;0.000129)			ATAGTGTTTCTCTCCGGTATG	0.418000																								0							SO:0001583	missense			ENST00000377065.4	1	1	hg19	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885366	0.51908	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.27557	1.66;1.66;1.66	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35772	N	0.003000	T	0.51466	0.1676	M	0.73598	2.24	0.29448	N	0.858655	D;D;P;D;D	0.76494	0.999;0.999;0.46;0.999;0.999	D;D;B;D;D	0.77004	0.973;0.973;0.301;0.98;0.989	T	0.50651	-0.8803	10	0.87932	D	0	.	9.7253	0.40328	0.0:0.0:0.0:1.0	.	408;410;418;442;450	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	A	408;408;418	ENSP00000315173:E408A;ENSP00000366265:E408A;ENSP00000380243:E418A	ENSP00000315173:E408A	E	-	2	0	ZNF41	47192890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.118000	0.64673	1.652000	0.50683	0.481000	0.45027	GAG		TCGA-IB-7651-01A-11D-2154-08	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	1	0	1	128	426	0	109	1	9.838530e-01	11	13	0	109	2		0	0	0	0	0	2	1	1	126	415	0	107	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARAF	369	broad.mit.edu	37	X	47429401	47429401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47429401G>A	ENST00000377045.4	+	14	1723	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase			29				Adenosine triphosphate(DB00171)	CTGCCTTACAGCCACATTGGC	0.587000																								0							SO:0001583	missense			ENST00000377045.4	1	1	hg19	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175564	0.78564	.	.	ENSG00000078061	ENST00000377045	D	0.82803	-1.65	4.92	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170092	0.53938	D	0.000055	T	0.81498	0.4835	N	0.24115	0.695	0.80722	D	1	P	0.52463	0.953	P	0.57283	0.817	T	0.83154	-0.0102	10	0.66056	D	0.02	.	10.7924	0.46440	0.0:0.1877:0.8123:0.0	.	510	P10398	ARAF_HUMAN	N	510	ENSP00000366244:S510N	ENSP00000366244:S510N	S	+	2	0	ARAF	47314345	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.950000	0.49081	2.167000	0.68274	0.513000	0.50165	AGC		TCGA-IB-7651-01A-11D-2154-08	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1	1	0	1	17	58	0	16	1	9.999999e-01	60	67	0	16	2		0	0	0	0	0	2	1	9.999777e-01	16	56	0	15	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999946	0.990000	1	9.900000e-01	1
CFP	5199	broad.mit.edu	37	X	47487033	47487033	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47487033G>A	ENST00000396992.3	-	4	531	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CFP_ENST00000377005.2_Silent_p.G137G|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.G137G	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin			18					CAGACCAGCCGCCCATCTCTG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000396992.3	1	1	hg19	CCDS14282.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	1	0	1	14	66	0	20	0	1.590194e-01	0	4	0	20	2		0	0	0	0	0	2	1	9.997791e-01	13	63	0	19	2								-19.999980	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999065	0.990000	1	9.900000e-01	1
ZNF81	347344	broad.mit.edu	37	X	47775190	47775190	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47775190G>A	ENST00000376954.1	+	6	1513	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E			P51508	ZNF81_HUMAN	zinc finger protein 81			4		all_lung(315;0.0973)			ACTCATACTGGAGAAAAACTC	0.398000																								0							SO:0001583	missense			ENST00000376954.1	1	1	hg19	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846366	0.51164	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.25749	1.78;1.78	4.16	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000708	T	0.21347	0.0514	L	0.27975	0.815	0.31963	N	0.608155	P	0.47677	0.899	P	0.46585	0.521	T	0.18429	-1.0337	10	0.72032	D	0.01	.	8.9002	0.35490	0.1139:0.0:0.8861:0.0	.	382	P51508	ZNF81_HUMAN	E	382	ENSP00000366153:G382E;ENSP00000341151:G382E	ENSP00000341151:G382E	G	+	2	0	ZNF81	47660134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.324000	0.59228	1.102000	0.41551	0.600000	0.82982	GGA		TCGA-IB-7651-01A-11D-2154-08	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	1	0	1	80	272	0	80	1	2.272352e-01	2	2	0	80	2		0	0	0	0	0	2	1	1	75	259	0	80	2								-4.038413	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC38A5	92745	broad.mit.edu	37	X	48317422	48317422	+	Splice_Site	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48317422T>C	ENST00000376876.3	-	16	2161		c.e16-2		SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Splice_Site|SLC38A5_ENST00000317669.5_Splice_Site			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5			19					GCACAGGGCCTGTGGGCCAGA	0.567000																								0							SO:0001630	splice_region_variant			ENST00000376876.3	1	1	hg19	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	t	11.80	1.746127	0.30955	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7927	0.52078	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A5	48202366	1.000000	0.71417	0.968000	0.41197	0.187000	0.23431	7.138000	0.77305	1.686000	0.51046	0.425000	0.28330	.		TCGA-IB-7651-01A-11D-2154-08	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	1	0	1	7	26	0	15	0	0	0	1	0	15	2		0	0	0	0	0	2	1	9.847605e-01	7	26	0	15	2								-15.552510	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.920000	1.000000	1.000000	0.994684	0.990000	1	9.900000e-01	1
FTSJ1	24140	broad.mit.edu	37	X	48339583	48339583	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48339583C>T	ENST00000348411.2	+	6	729	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	FTSJ1_ENST00000019019.2_Missense_Mutation_p.L136F|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)			7					GGCCCAGCTCCTCCTAGCTGT	0.592000																								0							SO:0001583	missense			ENST00000348411.2	1	1	hg19	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775117	0.49786	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.33654	1.4;1.4;1.4	4.47	4.47	0.54385	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.080390	0.51477	D	0.000087	T	0.59742	0.2216	M	0.80616	2.505	0.80722	D	1	D;P;D	0.69078	0.997;0.81;0.984	D;P;D	0.78314	0.991;0.875;0.949	T	0.65059	-0.6260	10	0.87932	D	0	-7.014	11.6808	0.51457	0.0:1.0:0.0:0.0	.	136;136;136	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	136	ENSP00000019019:L136F;ENSP00000326948:L136F;ENSP00000415457:L136F	ENSP00000019019:L136F	L	+	1	0	FTSJ1	48224527	1.000000	0.71417	0.964000	0.40570	0.016000	0.09150	4.594000	0.61041	2.241000	0.73720	0.507000	0.49892	CTC		TCGA-IB-7651-01A-11D-2154-08	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1	1	0	1	34	108	0	27	1	1	76	77	0	27	2		0	0	0	0	0	2	1	1	32	105	0	26	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FTSJ1	24140	broad.mit.edu	37	X	48340860	48340860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48340860G>T	ENST00000348411.2	+	10	1048	c.725G>T	c.(724-726)aGc>aTc	p.S242I	FTSJ1_ENST00000019019.2_Missense_Mutation_p.S240I|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)			7					GGGGACCTGAGCTCCTATGAT	0.562000																								0							SO:0001583	missense			ENST00000348411.2	1	1	hg19	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419145	0.62622	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000396894;ENST00000456787	T;T;T	0.50813	0.73;0.73;0.73	5.37	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.90759	3.145	0.45930	D	0.998761	D;D;D;P	0.67145	0.996;0.968;0.981;0.672	D;P;D;B	0.66351	0.943;0.753;0.914;0.313	T	0.69942	-0.5008	10	0.72032	D	0.01	-20.688	7.8376	0.29378	0.1976:0.0:0.8024:0.0	.	105;242;240;240	B7Z4K4;Q9UET6;Q9UET6-2;B3KN91	.;RRMJ1_HUMAN;.;.	I	240;242;105;240	ENSP00000019019:S240I;ENSP00000326948:S242I;ENSP00000415457:S240I	ENSP00000019019:S240I	S	+	2	0	FTSJ1	48225804	1.000000	0.71417	0.469000	0.27204	0.599000	0.36880	8.320000	0.89995	0.583000	0.29574	0.507000	0.49892	AGC		TCGA-IB-7651-01A-11D-2154-08	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1	1	0	1	40	116	0	25	1	1	86	61	0	25	2		0	0	0	0	0	2	1	1	38	114	0	22	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PORCN	64840	broad.mit.edu	37	X	48370880	48370880	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48370880C>T	ENST00000326194.6	+	4	583	c.540C>T	c.(538-540)gtC>gtT	p.V180V	PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V|PORCN_ENST00000367574.4_Silent_p.V109V|PORCN_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)			30					TACAAGCTGTCCAAGGCCGCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000326194.6	1	1	hg19	CCDS14299.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	0	0	1	19	60	0	25	1	9.998176e-01	35	16	0	25	2		0	0	0	0	0	2	1	9.999955e-01	19	58	0	23	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999985	0.990000	1	9.900000e-01	1
TBC1D25	4943	broad.mit.edu	37	X	48418517	48418517	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48418517C>T	ENST00000376771.4	+	6	1562	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.Y153Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25			4					TCTTCTGTTACCGCTGGCTGC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000376771.4	1	1	hg19	CCDS35242.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	1	0	1	20	72	0	20	1	9.999712e-01	32	38	0	20	2		0	0	0	0	0	2	1	9.999976e-01	20	70	0	20	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
TBC1D25	4943	broad.mit.edu	37	X	48419054	48419054	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48419054G>T	ENST00000376771.4	+	6	2099	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25			4					TGATGCAAGAGGTAGGCTCCC	0.597000																								0							SO:0001583	missense			ENST00000376771.4	1	1	hg19	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	2.166	-0.390994	0.04932	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14766	2.49;2.48	4.73	3.86	0.44501	Rab-GAP/TBC domain (1);	0.939161	0.08968	N	0.867691	T	0.13841	0.0335	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25257	-1.0137	10	0.49607	T	0.09	-13.5907	11.8855	0.52600	0.0:0.1872:0.8128:0.0	.	590;528;586	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	586;332	ENSP00000365962:E586D;ENSP00000444091:E332D	ENSP00000365962:E586D	E	+	3	2	TBC1D25	48303998	0.262000	0.24073	0.184000	0.23157	0.294000	0.27393	0.335000	0.19806	0.906000	0.36621	0.436000	0.28706	GAG		TCGA-IB-7651-01A-11D-2154-08	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	0	0	0	16	526	0	126	1	6.577495e-01	4	70	0	126	2		0	0	0	0	0	2	1	5.433743e-01	16	514	1	123	16								-3.653008	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.350000	0.200000	0.540000	0.340000	0.364329	0.350000	0	2.700000e-01	4.500000e-01
HDAC6	10013	broad.mit.edu	37	X	48674663	48674663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48674663C>T	ENST00000334136.5	+	18	1787	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	HDAC6_ENST00000376619.2_Missense_Mutation_p.L537F|HDAC6_ENST00000444343.2_Missense_Mutation_p.L551F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6			40				Vorinostat(DB02546)	GGCTGAGCTGCTCACCTGTCA	0.662000													Pancreas(112;205 1675 2305 8976 15959)											0							SO:0001583	missense			ENST00000334136.5	0	1	hg19	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	4.748	0.139103	0.09083	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72167	-0.63;-0.63;-0.63	5.85	4.08	0.47627	Histone deacetylase domain (2);	0.398067	0.26159	N	0.025993	T	0.69682	0.3138	M	0.86502	2.82	0.42683	D	0.993555	B;B;B	0.15473	0.005;0.013;0.005	B;B;B	0.23852	0.023;0.049;0.023	T	0.60089	-0.7331	10	0.09843	T	0.71	-15.8329	8.3677	0.32397	0.154:0.7629:0.0:0.0831	.	527;185;537	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	F	551;537;537;537	ENSP00000398566:L551F;ENSP00000334061:L537F;ENSP00000365804:L537F	ENSP00000334061:L537F	L	+	1	0	HDAC6	48559607	0.951000	0.32395	0.992000	0.48379	0.622000	0.37654	1.277000	0.33167	0.592000	0.29728	-1.026000	0.02426	CTC		TCGA-IB-7651-01A-11D-2154-08	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	0	0	0	44	138	0	38	1	9.999808e-01	27	29	0	38	2		0	0	0	0	0	2	1	1	43	136	0	35	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC35A2	7355	broad.mit.edu	37	X	48762679	48762679	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48762679C>A	ENST00000247138.5	-	4	510	c.507G>T	c.(505-507)tgG>tgT	p.W169C	SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376521.1_Missense_Mutation_p.W169C|SLC35A2_ENST00000413561.2_Missense_Mutation_p.W108C|SLC35A2_ENST00000452555.2_Missense_Mutation_p.W197C	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2			15					GCAGGGAGGCCCACTGCAGCC	0.642000																								0							SO:0001583	missense			ENST00000247138.5	0	0	hg19	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587497	0.66105	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555;ENST00000446885	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.13	5.13	0.70059	.	0.144298	0.51477	D	0.000085	D	0.88016	0.6324	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.91116	0.4926	10	0.87932	D	0	-4.9124	14.3302	0.66550	0.0:1.0:0.0:0.0	.	108;197;182;169;169	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	C	169;169;108;197;97	ENSP00000247138:W169C;ENSP00000365704:W169C;ENSP00000393233:W108C;ENSP00000416002:W197C;ENSP00000415518:W97C	ENSP00000247138:W169C	W	-	3	0	SLC35A2	48647623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.916000	0.75776	2.356000	0.79943	0.600000	0.82982	TGG		TCGA-IB-7651-01A-11D-2154-08	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	1	0	1	13	57	0	12	1	9.999999e-01	142	41	0	12	2		0	0	0	0	0	2	1	9.997073e-01	13	57	0	12	2								-19.999930	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999105	0.990000	1	9.900000e-01	1
SLC35A2	7355	broad.mit.edu	37	X	48767103	48767103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48767103C>T	ENST00000247138.5	-	2	265	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000376521.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2			15					CTCTTCTGTGCGAAGAGCAGC	0.597000																								0							SO:0001583	missense			ENST00000247138.5	1	1	hg19	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667952	0.29604	.	.	ENSG00000102100	ENST00000247138;ENST00000376529;ENST00000376521;ENST00000445167;ENST00000376515;ENST00000452555;ENST00000446885;ENST00000376512	T;T;T;T	0.46819	0.86;0.87;0.87;0.95	5.51	3.73	0.42828	.	0.451423	0.22929	N	0.053937	T	0.25419	0.0618	N	0.22421	0.69	0.31803	N	0.628153	P;B;P;P;P;B;B	0.48350	0.848;0.049;0.835;0.552;0.909;0.03;0.087	B;B;B;B;B;B;B	0.37198	0.201;0.031;0.16;0.029;0.243;0.04;0.031	T	0.19943	-1.0290	10	0.22706	T	0.39	-6.0309	5.7861	0.18334	0.0:0.6974:0.0:0.3026	.	101;116;101;16;88;88;88	B4DSH7;E7EW45;B4DE15;Q8NBD6;P78381-3;P78381-2;P78381	.;.;.;.;.;.;S35A2_HUMAN	T	88;88;88;88;64;116;16;88	ENSP00000247138:A88T;ENSP00000365704:A88T;ENSP00000416002:A116T;ENSP00000415518:A16T	ENSP00000247138:A88T	A	-	1	0	SLC35A2	48652047	0.979000	0.34478	1.000000	0.80357	0.826000	0.46750	0.243000	0.18106	1.080000	0.41073	0.600000	0.82982	GCA		TCGA-IB-7651-01A-11D-2154-08	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	0	0	1	22	65	0	20	1	1	120	50	0	20	2		0	0	0	0	0	2	1	9.999994e-01	22	61	0	20	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999997	0.990000	1	9.900000e-01	1
KCND1	3750	broad.mit.edu	37	X	48823034	48823034	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48823034G>A	ENST00000218176.3	-	4	2715	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1			24				Dalfampridine(DB06637)	CTGTTCAAAGGCAGAACGGTT	0.547000																								0							SO:0001583	missense			ENST00000218176.3	1	1	hg19	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017964	0.35606	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.82433	-1.61;-1.61	5.66	5.66	0.87406	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	L	0.51422	1.61	0.58432	D	0.999999	B	0.32467	0.372	B	0.32090	0.14	T	0.76069	-0.3094	10	0.22109	T	0.4	.	17.4122	0.87489	0.0:0.0:1.0:0.0	.	473	Q9NSA2	KCND1_HUMAN	V	96;473	ENSP00000365660:A96V;ENSP00000218176:A473V	ENSP00000218176:A473V	A	-	2	0	KCND1	48707978	0.998000	0.40836	0.986000	0.45419	0.413000	0.31143	8.771000	0.91751	2.381000	0.81170	0.523000	0.50628	GCC		TCGA-IB-7651-01A-11D-2154-08	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	1	0	0	7	93	0	36	0	1.867712e-01	1	9	0	36	2		0	0	0	0	0	2	1	9.764962e-01	7	86	0	35	2								-11.428430	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.840000	0.380000	1.000000	1.000000	0.808156	0.840000	0	5.800000e-01	1
GRIPAP1	56850	broad.mit.edu	37	X	48840196	48840196	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48840196C>T	ENST00000376441.1	-	15	1297	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	GRIPAP1_ENST00000376425.3_Silent_p.E390E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Silent_p.E368E|GRIPAP1_ENST00000376444.3_Silent_p.E376E	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1			10					CCTTCCGAGCCTCCTGTAATT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000376441.1	1	1	hg19	CCDS35248.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	1	0	1	97	401	0	146	1	1	102	62	0	146	2		0	0	0	0	0	2	1	1	93	376	0	146	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TFE3	7030	broad.mit.edu	37	X	48888050	48888050	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48888050G>T	ENST00000315869.7	-	10	1606	c.1347C>A	c.(1345-1347)tcC>tcA	p.S449S	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	1					TCGTGGCCAAGGAAAGCAGCC	0.587000			T	SFPQ, ASPSCR1, PRCC, NONO, CLTC	papillary renal, alveolar soft part sarcoma, renal										Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0							SO:0001819	synonymous_variant			ENST00000315869.7	1	1	hg19	CCDS14315.3																																																																																				TCGA-IB-7651-01A-11D-2154-08	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	1	0	1	23	311	0	77	1	9.997608e-01	28	152	0	77	2		0	0	0	0	0	2	1	9.999992e-01	21	303	0	74	2								-3.221883	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.810000	0.530000	1.000000	1.000000	0.813809	0.810000	0	6.600000e-01	9.800000e-01
GPKOW	27238	broad.mit.edu	37	X	48972297	48972297	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48972297C>T	ENST00000156109.5	-	8	1166	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs			21					AAACCGCACACGCAGGTCCCT	0.582000																								0							SO:0001583	missense			ENST00000156109.5	1	1	hg19	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946815	0.53186	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.49	3.7	0.42460	.	0.176102	0.47093	N	0.000246	T	0.73024	0.3534	M	0.87900	2.915	0.37697	D	0.924083	D	0.89917	1.0	D	0.71656	0.974	T	0.73241	-0.4045	9	0.23302	T	0.38	-2.0599	7.6099	0.28124	0.163:0.7496:0.0:0.0874	.	363	Q92917	GPKOW_HUMAN	H	363	.	ENSP00000156109:R363H	R	-	2	0	GPKOW	48859241	0.980000	0.34600	0.132000	0.22025	0.518000	0.34316	2.514000	0.45503	0.593000	0.29745	-0.217000	0.12591	CGT		TCGA-IB-7651-01A-11D-2154-08	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	0	0	1	41	119	0	40	1	1	135	89	0	40	2		0	0	0	0	0	2	1	1	41	114	0	40	2								-20.000000	1	1	121410	16	39	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPKOW	27238	broad.mit.edu	37	X	48973491	48973491	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48973491A>C	ENST00000156109.5	-	6	884	c.806T>G	c.(805-807)gTt>gGt	p.V269G		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs			21					CATGGCCCGAACATTGTCAGG	0.552000																								0							SO:0001583	missense			ENST00000156109.5	1	1	hg19	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	A	8.494	0.862683	0.17178	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	-0.978	0.10279	KOW (1);	0.400861	0.27181	N	0.020549	T	0.10035	0.0246	N	0.00729	-1.24	0.22552	N	0.998993	B	0.10296	0.003	B	0.14023	0.01	T	0.35176	-0.9799	9	0.22109	T	0.4	-3.7939	10.7501	0.46205	0.3003:0.0:0.6997:0.0	.	269	Q92917	GPKOW_HUMAN	G	269	.	ENSP00000156109:V269G	V	-	2	0	GPKOW	48860435	0.046000	0.20272	0.004000	0.12327	0.988000	0.76386	0.474000	0.22148	-0.121000	0.11787	0.483000	0.47432	GTT		TCGA-IB-7651-01A-11D-2154-08	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	1	0	1	59	212	0	74	1	1	111	86	0	74	2		0	0	0	0	0	2	1	1	59	208	0	74	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGIX	79917	broad.mit.edu	37	X	49022434	49022434	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49022434G>T	ENST00000412696.2	+	6	701	c.701G>T	c.(700-702)aGc>aTc	p.S234I	MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I|MAGIX_ENST00000376338.3_Missense_Mutation_p.S175I|MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I|MAGIX_ENST00000498742.1_3'UTR	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked								CCAGATCGCAGCCCAGATCCT	0.607000																								0							SO:0001583	missense			ENST00000412696.2	1	1	hg19	CCDS48106.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	10.73|10.73|10.73	1.433669|1.433669|1.433669	0.25813|0.25813|0.25813	.|.|.	.|.|.	ENSG00000017621|ENSG00000017621|ENSG00000017621	ENST00000415364|ENST00000458388|ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342	.|.|T;T;T;T;T;T	.|.|0.34275	.|.|1.77;2.11;1.76;1.63;1.47;1.37	3.86|3.86|3.86	1.96|1.96|1.96	0.26148|0.26148|0.26148	.|.|.	.|.|0.787278	.|.|0.10759	.|.|N	.|.|0.637462	T|T|T	0.18800|0.18800|0.18800	0.0451|0.0451|0.0451	N|N|N	0.12746|0.12746|0.12746	0.255|0.255|0.255	0.26823|0.26823|0.26823	N|N|N	0.968756|0.968756|0.968756	.|.|B;B;B;B;B	.|.|0.33022	.|.|0.394;0.132;0.208;0.208;0.15	.|.|B;B;B;B;B	.|.|0.30782	.|.|0.12;0.021;0.038;0.047;0.027	T|T|T	0.21280|0.21280|0.21280	-1.0250|-1.0250|-1.0250	5|5|10	.|.|0.21014	.|.|T	.|.|0.42	-0.3008|-0.3008|-0.3008	8.5271|8.5271|8.5271	0.33311|0.33311|0.33311	0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134	.|.|.	.|.|158;234;170;175;101	.|.|F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123	.|.|.;MAGIX_HUMAN;.;.;.	S|H|I	198|158|170;158;234;175;175;101	.|.|ENSP00000365517:S170I;ENSP00000403515:S158I;ENSP00000387928:S234I;ENSP00000365516:S175I;ENSP00000411713:S175I;ENSP00000400147:S101I	.|.|ENSP00000365516:S175I	A|Q|S	+|+|+	1|3|2	0|2|0	MAGIX|MAGIX|MAGIX	48909378|48909378|48909378	0.431000|0.431000|0.431000	0.25546|0.25546|0.25546	0.645000|0.645000|0.645000	0.29479|0.29479|0.29479	0.039000|0.039000|0.039000	0.13416|0.13416|0.13416	1.343000|1.343000|1.343000	0.33930|0.33930|0.33930	0.206000|0.206000|0.206000	0.20587|0.20587|0.20587	0.538000|0.538000|0.538000	0.68166|0.68166|0.68166	GCC|CAG|AGC		TCGA-IB-7651-01A-11D-2154-08	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	1	0	1	61	234	0	58	1	9.951032e-01	24	10	0	58	2		0	0	0	0	0	2	1	1	61	230	0	58	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1F	778	broad.mit.edu	37	X	49071930	49071930	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49071930C>T	ENST00000376265.2	-	28	3404	c.3343G>A	c.(3343-3345)Gtg>Atg	p.V1115M	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit			85				Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGAAGAACACTGAGATCTCC	0.507000																								0							SO:0001583	missense			ENST00000376265.2	1	1	hg19	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.875558	0.51695	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98684	-5.07;-5.07;-5.07	5.13	2.36	0.29203	Ion transport (1);	0.429330	0.22789	N	0.055631	D	0.96210	0.8764	L	0.41079	1.255	0.27141	N	0.961644	B;P	0.43314	0.225;0.803	B;B	0.42062	0.048;0.374	D	0.92451	0.5970	10	0.72032	D	0.01	.	7.5806	0.27963	0.0:0.5361:0.0:0.4639	.	1104;1115	F5CIQ9;O60840	.;CAC1F_HUMAN	M	1050;1104;1115	ENSP00000365427:V1050M;ENSP00000321618:V1104M;ENSP00000365441:V1115M	ENSP00000321618:V1104M	V	-	1	0	CACNA1F	48958874	0.971000	0.33674	0.597000	0.28824	0.952000	0.60782	1.968000	0.40500	0.391000	0.25143	0.597000	0.82753	GTG		TCGA-IB-7651-01A-11D-2154-08	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	1	0	1	31	112	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1	30	108	0	32	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1F	778	broad.mit.edu	37	X	49079532	49079532	+	Silent	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49079532G>T	ENST00000376265.2	-	15	2035	c.1974C>A	c.(1972-1974)tcC>tcA	p.S658S	CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Silent_p.S647S|CACNA1F_ENST00000376251.1_Silent_p.S593S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit			85				Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGCAGCAAGGATGCGATGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000376265.2	0	1	hg19	CCDS35253.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	1	0	1	8	52	0	17	0	0	1	0	0	17	2		0	0	0	0	0	2	1	9.889317e-01	7	50	0	17	2								-15.369320	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.730000	1.000000	1.000000	0.980591	0.990000	1	9.900000e-01	1
CACNA1F	778	broad.mit.edu	37	X	49088333	49088333	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49088333G>A	ENST00000376265.2	-	2	143	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	CACNA1F_ENST00000323022.5_Silent_p.L28L|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit			85				Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGGGGCACAGCCCCCATTCG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000376265.2	1	1	hg19	CCDS35253.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	1	0	1	19	40	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999978e-01	19	40	0	16	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
AKAP4	8852	broad.mit.edu	37	X	49957076	49957076	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957076T>G	ENST00000376056.2	-	5	2411	c.2261A>C	c.(2260-2262)aAt>aCt	p.N754T	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.N380T|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T|AKAP4_ENST00000376064.3_Missense_Mutation_p.N754T					A kinase (PRKA) anchor protein 4			41	Ovarian(276;0.236)				AGAGCACTGATTATTGACAAT	0.478000																								0							SO:0001583	missense			ENST00000376056.2	1	1	hg19	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048370	0.36181	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.83	4.83	0.62350	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000023	T	0.35624	0.0938	M	0.77820	2.39	0.30941	N	0.725794	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.41716	-0.9493	9	.	.	.	-21.6637	9.9508	0.41638	0.0:0.0:0.0:1.0	.	763;380	Q5JQC9;A6ND82	AKAP4_HUMAN;.	T	754;380;763;754	ENSP00000365224:N754T;ENSP00000365226:N380T;ENSP00000351327:N763T;ENSP00000365232:N754T	.	N	-	2	0	AKAP4	49843816	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	2.898000	0.48672	1.613000	0.50231	0.430000	0.28490	AAT		TCGA-IB-7651-01A-11D-2154-08	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	1	0	1	21	60	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999987e-01	21	56	0	25	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
AKAP4	8852	broad.mit.edu	37	X	49957477	49957477	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957477G>A	ENST00000376056.2	-	5	2010	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376064.3_Silent_p.I620I					A kinase (PRKA) anchor protein 4			41	Ovarian(276;0.236)				GCATTAGAACGATGTTTGACA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000376056.2	1	1	hg19	CCDS14330.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	1	0	0	162	617	0	169		0	0	0	0	169	2		0	0	0	0	0	2	1	1	157	604	0	169	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DGKK	139189	broad.mit.edu	37	X	50144087	50144087	+	RNA	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144087G>A	ENST00000376025.2	-	0	1418							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa			45	Ovarian(276;0.236)				ATGAGCGATGGCTTCTGAAGC	0.473000																								0											ENST00000376025.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	0	0	0	14	42	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	9.998834e-01	14	42	0	14	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999887	0.990000	1	9.900000e-01	1
DGKK	139189	broad.mit.edu	37	X	50144126	50144126	+	RNA	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144126G>T	ENST00000376025.2	-	0	1379							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa			45	Ovarian(276;0.236)				GTCTCCTACAGTCATCATGCA	0.458000																								0											ENST00000376025.2	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	0	0	0	14	35	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.998981e-01	14	35	0	13	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999942	0.990000	1	9.900000e-01	1
SHROOM4	57477	broad.mit.edu	37	X	50350432	50350432	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50350432C>T	ENST00000289292.7	-	6	3993	c.3710G>A	c.(3709-3711)gGc>gAc	p.G1237D	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1121D|SHROOM4_ENST00000376020.2_Missense_Mutation_p.G1237D			Q9ULL8	SHRM4_HUMAN	shroom family member 4			52	Ovarian(276;0.236)				CCCACCAATGCCATAGTAGCA	0.507000																								0							SO:0001583	missense			ENST00000289292.7	1	1	hg19	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393881	0.42410	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.28666	1.6;1.6;1.6	4.39	4.39	0.52855	Apx/shroom, ASD2 (2);	0.202088	0.33980	N	0.004366	T	0.36193	0.0958	N	0.22421	0.69	0.39622	D	0.970049	D	0.89917	1.0	D	0.97110	1.0	T	0.06197	-1.0840	10	0.18276	T	0.48	.	11.2573	0.49060	0.0:1.0:0.0:0.0	.	1237	Q9ULL8	SHRM4_HUMAN	D	1237;1237;1121	ENSP00000289292:G1237D;ENSP00000365188:G1237D;ENSP00000421450:G1121D	ENSP00000289292:G1237D	G	-	2	0	SHROOM4	50367172	0.967000	0.33354	0.959000	0.39883	0.982000	0.71751	2.926000	0.48892	2.427000	0.82271	0.513000	0.50165	GGC		TCGA-IB-7651-01A-11D-2154-08	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1	40	227	0	69	0	3.500663e-01	0	8	0	69	2		0	0	0	0	0	2	1	1	40	226	0	69	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
SHROOM4	57477	broad.mit.edu	37	X	50376791	50376791	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50376791G>T	ENST00000289292.7	-	4	2565	c.2282C>A	c.(2281-2283)gCt>gAt	p.A761D	SHROOM4_ENST00000460112.3_Missense_Mutation_p.A645D|SHROOM4_ENST00000376020.2_Missense_Mutation_p.A761D			Q9ULL8	SHRM4_HUMAN	shroom family member 4			52	Ovarian(276;0.236)				ATCCTCCCCAGCTTGAGCAGT	0.478000																								0							SO:0001583	missense			ENST00000289292.7	1	1	hg19	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	9.913	1.210131	0.22289	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88201	-2.35;-2.35;-2.35	5.74	4.88	0.63580	.	0.306844	0.30556	N	0.009371	T	0.79221	0.4409	L	0.32530	0.975	0.37514	D	0.917255	P	0.42409	0.779	B	0.32289	0.143	T	0.79596	-0.1738	10	0.44086	T	0.13	.	8.4126	0.32653	0.0831:0.0:0.7634:0.1535	.	761	Q9ULL8	SHRM4_HUMAN	D	761;761;645	ENSP00000289292:A761D;ENSP00000365188:A761D;ENSP00000421450:A645D	ENSP00000289292:A761D	A	-	2	0	SHROOM4	50393531	0.450000	0.25697	0.993000	0.49108	0.783000	0.44284	1.445000	0.35079	1.182000	0.42928	0.600000	0.82982	GCT		TCGA-IB-7651-01A-11D-2154-08	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1	89	303	0	77	0	8.289632e-01	0	13	0	77	2		0	0	0	0	0	2	1	1	89	298	0	77	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SHROOM4	57477	broad.mit.edu	37	X	50377526	50377526	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50377526C>T	ENST00000289292.7	-	4	1830	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	SHROOM4_ENST00000460112.3_Missense_Mutation_p.S400N|SHROOM4_ENST00000376020.2_Missense_Mutation_p.S516N			Q9ULL8	SHRM4_HUMAN	shroom family member 4			52	Ovarian(276;0.236)				GGCTGCTCTGCTTGTTCTGTT	0.532000																								0							SO:0001583	missense			ENST00000289292.7	1	1	hg19	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.626808	0.00813	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15256	2.82;2.82;2.44	4.46	0.495	0.16890	.	0.850755	0.10644	N	0.650629	T	0.12561	0.0305	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	10	0.20519	T	0.43	.	4.3673	0.11230	0.1676:0.5467:0.0:0.2856	.	516	Q9ULL8	SHRM4_HUMAN	N	516;516;400	ENSP00000289292:S516N;ENSP00000365188:S516N;ENSP00000421450:S400N	ENSP00000289292:S516N	S	-	2	0	SHROOM4	50394266	0.000000	0.05858	0.019000	0.16419	0.141000	0.21300	-0.007000	0.12810	-0.044000	0.13491	0.600000	0.82982	AGC		TCGA-IB-7651-01A-11D-2154-08	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	0	0	0	13	414	0	71	0	3.447751e-02	0	9	0	71	2		0	0	0	0	0	2	1	9.995342e-01	13	412	0	69	2								-12.357670	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.360000	0.200000	0.580000	0.360000	0.379538	0.360000	0	2.700000e-01	4.700000e-01
BMP15	9210	broad.mit.edu	37	X	50659581	50659581	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50659581A>G	ENST00000252677.3	+	2	1153	c.1153A>G	c.(1153-1155)Att>Gtt	p.I385V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15			26	Ovarian(276;0.236)				TGAGGGTATGATTGCTGAGTC	0.443000																								0							SO:0001583	missense			ENST00000252677.3	1	1	hg19	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	a	7.189	0.591080	0.13812	.	.	ENSG00000130385	ENST00000252677	D	0.83419	-1.72	5.58	4.43	0.53597	Transforming growth factor-beta, C-terminal (3);	0.231421	0.45361	D	0.000375	T	0.62696	0.2449	N	0.12663	0.25	0.47441	D	0.999426	B	0.31769	0.339	B	0.32624	0.149	T	0.61787	-0.6991	10	0.02654	T	1	.	8.0656	0.30659	0.9042:0.0:0.0958:0.0	.	385	O95972	BMP15_HUMAN	V	385	ENSP00000252677:I385V	ENSP00000252677:I385V	I	+	1	0	BMP15	50676321	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	1.689000	0.37700	1.876000	0.54355	0.481000	0.45027	ATT		TCGA-IB-7651-01A-11D-2154-08	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	0	0	0	18	546	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	9.999792e-01	18	536	0	131	2								-16.079750	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.370000	0.230000	0.570000	0.380000	0.391503	0.370000	0	2.900000e-01	4.800000e-01
NUDT11	55190	broad.mit.edu	37	X	51239242	51239242	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51239242G>A	ENST00000375992.3	-	1	206	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11			9	Ovarian(276;0.236)				CACGCCGCCCGCTTCTTGAAC	0.672000										HNSCC(48;0.14)			GBM(38;198 791 1498 11752 13599)											0							SO:0001583	missense			ENST00000375992.3	0	1	hg19	CCDS43952.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532862	0.64972	.	.	ENSG00000196368	ENST00000375992	T	0.43688	0.94	3.14	2.25	0.28309	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.93420	3.415	0.46260	D	0.998958	D	0.89917	1.0	D	0.97110	1.0	T	0.77683	-0.2496	9	0.59425	D	0.04	-21.8399	9.3444	0.38100	0.0:0.2171:0.7829:0.0	.	19	Q96G61	NUD11_HUMAN	W	19	ENSP00000365160:R19W	ENSP00000365160:R19W	R	-	1	2	NUDT11	51255982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.615000	0.36922	0.502000	0.28037	0.544000	0.68410	CGG		TCGA-IB-7651-01A-11D-2154-08	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1	1	0	0	7	137	0	26	0	3.354767e-03	0	2	0	26	2		0	0	0	0	0	2	1	9.747348e-01	6	126	0	26	2								-10.199480	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.590000	0.260000	1.000000	1.000000	0.616323	0.590000	0	4.000000e-01	8.200000e-01
SSX7	280658	broad.mit.edu	37	X	52681355	52681355	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:52681355G>A	ENST00000298181.5	-	4	385	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7			16	Ovarian(276;0.236)				GAGGTCTGTGGCCCCTGTATT	0.507000																								0							SO:0001583	missense			ENST00000298181.5	1	1	hg19	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	4.896	0.166444	0.09339	.	.	ENSG00000187754	ENST00000298181	T	0.10005	2.92	0.725	-0.332	0.12675	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.551260	0.03863	N	0.274301	T	0.10165	0.0249	L	0.41573	1.285	0.09310	N	1	B	0.19331	0.035	B	0.23852	0.049	T	0.36578	-0.9742	9	0.36615	T	0.2	.	.	.	.	.	76	Q7RTT5	SSX7_HUMAN	V	76	ENSP00000298181:A76V	ENSP00000298181:A76V	A	-	2	0	SSX7	52698080	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.207000	0.17395	-0.196000	0.10366	0.409000	0.27619	GCC		TCGA-IB-7651-01A-11D-2154-08	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	1	0	1	155	525	0	219		0	0	0	0	219	2		0	0	0	0	0	2	1	1	152	505	0	217	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GPR173	54328	broad.mit.edu	37	X	53106692	53106692	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53106692C>A	ENST00000332582.4	+	2	1380	c.889C>A	c.(889-891)Ctc>Atc	p.L297I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173			16					GCTCTTTCTGCTCCTCTGGTC	0.592000																								0							SO:0001583	missense			ENST00000332582.4	1	1	hg19	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713333	0.30413	.	.	ENSG00000184194	ENST00000332582	T	0.37411	1.2	5.03	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.155901	0.41823	D	0.000820	T	0.29588	0.0738	L	0.46157	1.445	0.38960	D	0.958531	B	0.10296	0.003	B	0.18871	0.023	T	0.11743	-1.0575	10	0.23891	T	0.37	-11.5774	10.308	0.43691	0.0:0.6608:0.3392:0.0	.	297	Q9NS66	GP173_HUMAN	I	297	ENSP00000331600:L297I	ENSP00000331600:L297I	L	+	1	0	GPR173	53123417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.113000	0.41902	2.094000	0.63399	0.529000	0.55759	CTC		TCGA-IB-7651-01A-11D-2154-08	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	1	0	1	42	148	0	33	1	1.294869e-01	2	1	0	33	2		0	0	0	0	0	2	1	1	41	146	0	32	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KDM5C	8242	broad.mit.edu	37	X	53245326	53245326	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53245326C>A	ENST00000375401.3	-	6	1243	c.711G>T	c.(709-711)caG>caT	p.Q237H	KDM5C_ENST00000452825.3_Missense_Mutation_p.Q170H|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C			82					CCCCATAGATCTGTAGCTTTT	0.532000			N, F, S		clear cell renal carcinoma										Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0							SO:0001583	missense			ENST00000375401.3	1	1	hg19	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380961	0.61845	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87966	-2.32;-2.0;-2.01;-2.0;-2.16	4.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	M	0.83953	2.67	0.47659	D	0.999484	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.984;0.984	D	0.92310	0.5857	10	0.72032	D	0.01	-24.0144	10.1738	0.42927	0.0:0.8985:0.0:0.1015	.	170;236;237	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	H	170;237;236;237;196	ENSP00000445176:Q170H;ENSP00000364550:Q237H;ENSP00000385394:Q236H;ENSP00000364528:Q237H;ENSP00000364532:Q196H	ENSP00000364528:Q237H	Q	-	3	2	KDM5C	53262051	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.989000	0.56958	0.841000	0.35020	0.529000	0.55759	CAG		TCGA-IB-7651-01A-11D-2154-08	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	1	0	1	107	365	0	111	1	1	37	49	0	111	2		0	0	0	0	0	2	1	1	106	360	0	110	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SMC1A	8243	broad.mit.edu	37	X	53439881	53439881	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53439881G>A	ENST00000322213.4	-	5	950	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A			49					tgctgctcccgcatcattttg	0.507000																								0							SO:0001583	missense			ENST00000322213.4	1	1	hg19	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726948	0.48833	.	.	ENSG00000072501	ENST00000322213	T	0.78924	-1.22	4.4	4.4	0.53042	RecF/RecN/SMC (1);	0.124433	0.50627	D	0.000101	D	0.88926	0.6570	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.979;1.0;0.984	D	0.90213	0.4266	10	0.87932	D	0	.	9.5439	0.39268	0.0:0.0:0.6544:0.3456	.	253;275;275	Q6MZR8;A8K7A6;Q14683	.;.;SMC1A_HUMAN	W	275	ENSP00000323421:R275W	ENSP00000323421:R275W	R	-	1	2	SMC1A	53456606	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.262000	0.43285	1.941000	0.56285	0.436000	0.28706	CGG		TCGA-IB-7651-01A-11D-2154-08	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	1	0	1	38	113	0	29	1	1	75	88	0	29	2		0	0	0	0	0	2	1	1	36	109	0	29	2								-20.000000	1	1	121376	1	25	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RIBC1	158787	broad.mit.edu	37	X	53456828	53456828	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53456828G>A	ENST00000375327.3	+	6	724	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	HSD17B10_ENST00000495986.1_5'Flank|RP3-339A18.6_ENST00000418049.1_RNA|RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1			2					GCTGCGCCTCGCCATGGATGC	0.577000																								0							SO:0001583	missense			ENST00000375327.3	1	1	hg19	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610732	0.46527	.	.	ENSG00000158423	ENST00000414955;ENST00000375327	T;T	0.23348	1.91;1.91	5.6	5.6	0.85130	.	0.265038	0.36482	N	0.002566	T	0.30008	0.0751	M	0.69823	2.125	0.09310	N	0.999999	D;P	0.53151	0.958;0.835	B;B	0.41466	0.358;0.147	T	0.37596	-0.9699	10	0.23302	T	0.38	-2.4089	15.48	0.75517	0.0:0.0:1.0:0.0	.	76;191	E9PDU2;Q8N443	.;RIBC1_HUMAN	T	76;191	ENSP00000401463:A76T;ENSP00000364476:A191T	ENSP00000364476:A191T	A	+	1	0	RIBC1	53473553	0.919000	0.31177	0.454000	0.27019	0.407000	0.30961	4.732000	0.62029	2.364000	0.80123	0.384000	0.25694	GCC		TCGA-IB-7651-01A-11D-2154-08	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	0	0	1	45	144	0	54	1	6.711391e-01	6	3	0	54	2		0	0	0	0	0	2	1	1	45	139	0	53	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HUWE1	10075	broad.mit.edu	37	X	53575044	53575044	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53575044T>A	ENST00000342160.3	-	67	10683	c.10226A>T	c.(10225-10227)aAg>aTg	p.K3409M	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase			153					TGGCACTGACTTCACGGAGTT	0.547000																								0							SO:0001583	missense			ENST00000342160.3	1	1	hg19	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.07|13.07	2.128357|2.128357	0.37533|0.37533	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.41065	.|1.01;1.01	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.436137	.|0.19696	.|N	.|0.108158	T|T	0.60547|0.60547	0.2277|0.2277	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.984;0.993	T|T	0.62774|0.62774	-0.6783|-0.6783	5|10	.|0.72032	.|D	.|0.01	.|.	13.5123|13.5123	0.61519|0.61519	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3409;3393	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	D|M	2442;246|3409	.|ENSP00000340648:K3409M;ENSP00000262854:K3409M	.|ENSP00000262854:K3409M	E|K	-|-	3|2	2|0	HUWE1|HUWE1	53591769|53591769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.307000|5.307000	0.65762|0.65762	1.834000|1.834000	0.53371|0.53371	0.425000|0.425000	0.28330|0.28330	GAA|AAG		TCGA-IB-7651-01A-11D-2154-08	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	1	0	1	29	70	0	24	1	1	101	90	0	24	2	0	0	0	1	0	0	2	1	1	29	70	0	24	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HUWE1	10075	broad.mit.edu	37	X	53579602	53579602	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53579602T>C	ENST00000342160.3	-	61	9204	c.8747A>G	c.(8746-8748)gAc>gGc	p.D2916G	HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase			153					TGCTTACCTGTCCTCAGGTGG	0.542000																								0							SO:0001583	missense			ENST00000342160.3	1	1	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484049	0.26598	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.38077	1.16;1.16	6.08	6.08	0.98989	.	0.451805	0.25774	N	0.028384	T	0.20981	0.0505	N	0.14661	0.345	0.36000	D	0.837342	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.24119	-1.0169	10	0.25751	T	0.34	.	9.0556	0.36403	0.0:0.0833:0.0:0.9167	.	2916;2916	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	G	2916	ENSP00000340648:D2916G;ENSP00000262854:D2916G	ENSP00000262854:D2916G	D	-	2	0	HUWE1	53596327	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.535000	0.45685	2.058000	0.61347	0.486000	0.48141	GAC		TCGA-IB-7651-01A-11D-2154-08	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	1	0	1	144	438	0	130	1	1	66	57	0	130	2		0	0	0	0	0	2	1	1	141	430	0	129	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HUWE1	10075	broad.mit.edu	37	X	53631738	53631738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53631738G>A	ENST00000342160.3	-	25	3011	c.2554C>T	c.(2554-2556)Ctc>Ttc	p.L852F	HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F|HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase			153					AGGGAGGAGAGGATGGAGTCC	0.493000																								0							SO:0001583	missense			ENST00000342160.3	0	1	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267939	0.80469	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.54279	0.88;0.88;0.58	5.88	5.88	0.94601	.	0.197114	0.33534	N	0.004814	T	0.71239	0.3316	L	0.61218	1.895	0.51767	D	0.999938	D	0.89917	1.0	D	0.76071	0.987	T	0.72997	-0.4121	10	0.72032	D	0.01	.	17.8502	0.88744	0.0:0.0:1.0:0.0	.	852	Q7Z6Z7	HUWE1_HUMAN	F	852	ENSP00000340648:L852F;ENSP00000262854:L852F;ENSP00000218328:L852F	ENSP00000218328:L852F	L	-	1	0	HUWE1	53648463	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.910000	0.63321	2.489000	0.83994	0.600000	0.82982	CTC		TCGA-IB-7651-01A-11D-2154-08	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	0	0	1	7	224	0	60	1	7.074688e-01	15	63	0	60	2		0	0	0	0	0	2	1	9.810785e-01	8	223	0	59	2								-3.721945	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.370000	0.160000	0.680000	0.350000	0.395397	0.370000	0	2.500000e-01	5.200000e-01
HUWE1	10075	broad.mit.edu	37	X	53674485	53674485	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53674485G>A	ENST00000342160.3	-	5	634	c.177C>T	c.(175-177)gaC>gaT	p.D59D	HUWE1_ENST00000218328.8_Silent_p.D59D|HUWE1_ENST00000262854.6_Silent_p.D59D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase			153					CATCGAAGCGGTCCAACAGGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000342160.3	1	1	hg19	CCDS35301.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	1	0	1	128	422	0	185	1	9.999924e-01	27	31	0	185	2		0	0	0	0	0	2	1	1	125	413	0	183	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM120C	54954	broad.mit.edu	37	X	54185844	54185844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54185844C>T	ENST00000375180.2	-	2	961	c.905G>A	c.(904-906)gGc>gAc	p.G302D	FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C			28					CCTCTTCAGGCCCAGCTGCTT	0.468000																								0							SO:0001583	missense			ENST00000375180.2	1	1	hg19	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.627179	0.28978	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.40476	1.03;1.03	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	N	0.20986	0.625	0.80722	D	1	B;B	0.31879	0.159;0.344	B;B	0.36666	0.23;0.217	T	0.11743	-1.0575	10	0.25751	T	0.34	-5.9882	16.37	0.83353	0.0:1.0:0.0:0.0	.	302;302	F8W881;Q9NX05	.;F120C_HUMAN	D	302	ENSP00000364324:G302D;ENSP00000329896:G302D	ENSP00000329896:G302D	G	-	2	0	FAM120C	54202569	0.852000	0.29690	0.995000	0.50966	0.831000	0.47069	1.193000	0.32162	2.118000	0.64928	0.502000	0.49764	GGC		TCGA-IB-7651-01A-11D-2154-08	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	1	0	1	67	229	0	84	0	4.130707e-01	0	6	0	84	2		0	0	0	0	0	2	1	1	63	226	0	83	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGD1	2245	broad.mit.edu	37	X	54473856	54473856	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54473856A>G	ENST00000375135.3	-	17	3201	c.2468T>C	c.(2467-2469)gTc>gCc	p.V823A		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1			39					GCTGCAGATGACGCTGTTCTC	0.532000																								0							SO:0001583	missense			ENST00000375135.3	1	1	hg19	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625943	0.66901	.	.	ENSG00000102302	ENST00000375135	T	0.12879	2.64	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.325727	0.22324	N	0.061559	T	0.15219	0.0367	L	0.41236	1.265	0.40850	D	0.983745	B	0.22983	0.078	B	0.29440	0.102	T	0.03514	-1.1029	10	0.66056	D	0.02	-5.9167	13.3064	0.60355	1.0:0.0:0.0:0.0	.	823	P98174	FGD1_HUMAN	A	823	ENSP00000364277:V823A	ENSP00000364277:V823A	V	-	2	0	FGD1	54490581	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	8.526000	0.90588	1.784000	0.52394	0.430000	0.28490	GTC		TCGA-IB-7651-01A-11D-2154-08	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	0	0	1	25	84	1	32	1	9.355211e-01	14	36	1	32	7		0	0	0	0	0	2	1	9.935631e-01	25	83	1	32	12								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
FGD1	2245	broad.mit.edu	37	X	54496518	54496518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496518G>A	ENST00000375135.3	-	4	1765	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	p.D344D(1)		39					cctcctcctcgtcgtcctcct	0.632000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000375135.3	1	0	hg19	CCDS14359.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	1	0	1	36	103	0	38	1	8.816805e-01	2	11	0	38	2		0	0	0	0	0	2	1	1	35	97	0	38	2								-20.000000	1	1	121400	2	29	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FGD1	2245	broad.mit.edu	37	X	54496845	54496845	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496845G>A	ENST00000375135.3	-	4	1438	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1			39					GGGGACCTGGGCTGGGGCCAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000375135.3	1	1	hg19	CCDS14359.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	1	0	0	22	86	0	22	1	9.828642e-01	3	26	0	22	2		0	0	0	0	0	2	1	9.999992e-01	21	83	0	22	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
MAGED2	10916	broad.mit.edu	37	X	54837363	54837363	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54837363G>T	ENST00000375068.1	+	4	880	c.647G>T	c.(646-648)aGg>aTg	p.R216M	MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000347546.4_Missense_Mutation_p.R198M|MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2			26					ATGGCCCGCAGGGCTTCAAGG	0.602000																								0							SO:0001583	missense			ENST00000375068.1	0	1	hg19	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100578	0.56183	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000218439;ENST00000375058;ENST00000396224	T;T;T;T;T;T;T	0.73152	3.76;3.76;3.69;-0.72;3.76;3.76;3.76	3.85	3.85	0.44370	.	0.000000	0.48286	D	0.000184	T	0.64735	0.2625	N	0.08118	0	0.27613	N	0.948598	D;D	0.64830	0.994;0.99	D;D	0.77004	0.989;0.974	T	0.55761	-0.8090	10	0.30854	T	0.27	.	8.6097	0.33795	0.0:0.2301:0.7699:0.0	.	198;216	Q9UNF1-2;Q9UNF1	.;MAGD2_HUMAN	M	216;216;160;198;216;216;216	ENSP00000364209:R216M;ENSP00000364193:R216M;ENSP00000336962:R160M;ENSP00000340290:R198M;ENSP00000218439:R216M;ENSP00000364198:R216M;ENSP00000379526:R216M	ENSP00000218439:R216M	R	+	2	0	MAGED2	54854088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.242000	0.58714	2.175000	0.68902	0.600000	0.82982	AGG		TCGA-IB-7651-01A-11D-2154-08	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	1	0	1	15	82	0	21	1	1	200	387	0	21	2		0	0	0	0	0	2	1	9.999028e-01	15	80	0	20	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.998320	0.990000	1	9.900000e-01	1
TRO	7216	broad.mit.edu	37	X	54954201	54954201	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54954201A>C	ENST00000173898.7	+	11	1977	c.1865A>C	c.(1864-1866)aAg>aCg	p.K622T	TRO_ENST00000420798.2_Missense_Mutation_p.K153T|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000399736.1_Missense_Mutation_p.K225T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T|SNORA11_ENST00000408823.1_RNA	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin			37					AAAGTCCTCAAGTTTGCATGC	0.537000																								0							SO:0001583	missense			ENST00000173898.7	1	1	hg19	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706036	0.48412	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06849	3.94;3.7;3.7;3.55;3.25;3.59	3.1	1.94	0.25998	.	.	.	.	.	T	0.18383	0.0441	L	0.49513	1.565	0.30932	N	0.726759	D;P;P;D	0.76494	0.999;0.938;0.573;0.998	D;P;B;D	0.75484	0.958;0.521;0.376;0.986	T	0.08432	-1.0722	9	0.87932	D	0	.	5.5264	0.16960	0.8559:0.0:0.1441:0.0	.	225;225;622;622	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	T	622;622;622;225;225;153;225	ENSP00000173898:K622T;ENSP00000318278:K622T;ENSP00000364162:K622T;ENSP00000382641:K225T;ENSP00000405126:K153T;ENSP00000364181:K225T	ENSP00000173898:K622T	K	+	2	0	TRO	54970926	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	1.126000	0.31344	0.443000	0.26582	0.417000	0.27973	AAG		TCGA-IB-7651-01A-11D-2154-08	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	1	0	1	28	136	0	44	0	5.374320e-01	0	10	0	44	2		0	0	0	0	0	2	1	1	26	135	0	44	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999978	0.990000	1	9.900000e-01	1
TRO	7216	broad.mit.edu	37	X	54955207	54955207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54955207G>A	ENST00000173898.7	+	12	2162	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	TRO_ENST00000420798.2_Missense_Mutation_p.D215N|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin			37					ggATGACATGGATATCGACTG	0.537000																								0							SO:0001583	missense			ENST00000173898.7	1	1	hg19	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164907	0.38217	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.10192	3.49;2.9;3.2	2.95	2.95	0.34219	.	.	.	.	.	T	0.13457	0.0326	L	0.36672	1.1	0.31987	N	0.60514	D;D	0.65815	0.995;0.995	P;P	0.53185	0.72;0.72	T	0.10965	-1.0607	9	0.87932	D	0	.	5.2406	0.15469	0.1614:0.0:0.8386:0.0	.	287;684	B1AKE9;Q12816	.;TROP_HUMAN	N	684;215;287	ENSP00000173898:D684N;ENSP00000405126:D215N;ENSP00000364181:D287N	ENSP00000173898:D684N	D	+	1	0	TRO	54971932	0.813000	0.29090	0.994000	0.49952	0.847000	0.48162	1.099000	0.31013	1.744000	0.51775	0.544000	0.68410	GAT		TCGA-IB-7651-01A-11D-2154-08	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	1	0	1	38	141	0	30	0	6.620572e-01	0	10	0	30	2		0	0	0	0	0	2	1	1	35	138	0	29	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRO	7216	broad.mit.edu	37	X	54957437	54957437	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54957437G>A	ENST00000173898.7	+	12	4392	c.4280G>A	c.(4279-4281)gGc>gAc	p.G1427D	TRO_ENST00000420798.2_Missense_Mutation_p.G958D|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin			37					GGTGCCTGTGGCTTCTCGTAT	0.557000																								0							SO:0001583	missense			ENST00000173898.7	1	1	hg19	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855585	0.51376	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.27104	2.55;1.69;3.06	3.18	2.31	0.28768	.	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.26502	N	0.974758	D;D	0.60160	0.987;0.987	P;P	0.47864	0.559;0.559	T	0.08146	-1.0736	9	0.87932	D	0	.	7.5398	0.27731	0.138:0.0:0.862:0.0	.	1030;1427	B1AKE9;Q12816	.;TROP_HUMAN	D	1427;353;958;1030	ENSP00000173898:G1427D;ENSP00000405126:G958D;ENSP00000364181:G1030D	ENSP00000173898:G1427D	G	+	2	0	TRO	54974162	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	3.930000	0.56522	0.744000	0.32741	0.600000	0.82982	GGC		TCGA-IB-7651-01A-11D-2154-08	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	1	0	1	42	140	0	25	0	8.636518e-01	0	14	0	25	2		0	0	0	0	0	2	1	1	41	136	0	22	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFKFB1	5207	broad.mit.edu	37	X	54959869	54959869	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54959869C>A	ENST00000375006.3	-	14	1453	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D|PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1			24					CCAGGGCTTCCTCAGGTTCCC	0.542000																								0							SO:0001583	missense			ENST00000375006.3	1	1	hg19	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295089	0.23564	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.28	0.356	0.16074	.	0.161173	0.52532	D	0.000061	T	0.40171	0.1106	L	0.39020	1.185	0.36113	D	0.844969	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.25222	-1.0138	9	0.21540	T	0.41	-4.2766	8.1101	0.30909	0.0:0.5175:0.0:0.4825	.	396;261;461	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	D	461;396;261	.	ENSP00000364131:E261D	E	-	3	2	PFKFB1	54976594	0.335000	0.24748	0.988000	0.46212	0.811000	0.45836	-0.438000	0.06905	-0.027000	0.13873	0.287000	0.19450	GAG		TCGA-IB-7651-01A-11D-2154-08	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1	1	0	1	58	176	0	61	0	0	0	1	0	61	2		0	0	0	0	0	2	1	1	57	174	0	60	2								-4.625048	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PFKFB1	5207	broad.mit.edu	37	X	54978518	54978518	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54978518G>A	ENST00000375006.3	-	8	736	c.666C>T	c.(664-666)gaC>gaT	p.D222D	PFKFB1_ENST00000545676.1_Silent_p.D157D|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1			24					GTGTGCCCACGTCGAAGATCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000375006.3	1	1	hg19	CCDS14364.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1	1	0	1	39	107	0	49	0	0	1	0	0	49	2		0	0	0	0	0	2	1	1	39	106	0	49	2								-20.000000	1	1	121410	2	32	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALAS2	212	broad.mit.edu	37	X	55035746	55035746	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55035746C>T	ENST00000330807.5	-	11	1768	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	ALAS2_ENST00000396198.3_Missense_Mutation_p.G531E|ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2			17				Glycine(DB00145)	GAGGGGCAGCCCCACCGCAGT	0.547000																								0							SO:0001583	missense			ENST00000330807.5	1	1	hg19	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174616	0.21704	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.97328	-4.34;-4.15;-4.12	5.39	4.52	0.55395	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047841	0.85682	D	0.000000	D	0.96147	0.8744	M	0.77820	2.39	0.58432	D	0.999999	B;B;B	0.31859	0.343;0.343;0.343	B;B;B	0.37833	0.167;0.259;0.216	D	0.94339	0.7569	10	0.48119	T	0.1	-16.5056	8.0581	0.30617	0.1612:0.753:0.0:0.0858	.	507;531;544	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	E	544;531;507	ENSP00000332369:G544E;ENSP00000379501:G531E;ENSP00000337131:G507E	ENSP00000332369:G544E	G	-	2	0	ALAS2	55052471	1.000000	0.71417	0.913000	0.36048	0.012000	0.07955	4.961000	0.63681	1.161000	0.42604	-0.237000	0.12165	GGG		TCGA-IB-7651-01A-11D-2154-08	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	1	0	1	15	50	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.999297e-01	14	50	0	9	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999887	0.990000	1	9.900000e-01	1
RRAGB	10325	broad.mit.edu	37	X	55748704	55748704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55748704G>A	ENST00000262850.7	+	3	655	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RRAGB_ENST00000374941.4_Missense_Mutation_p.R71H	NM_016656.3	NP_057740.2			Ras-related GTP binding B			14					GACACACGTCGCCTTGGCGCA	0.398000																								0							SO:0001583	missense			ENST00000262850.7	1	1	hg19	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542817	0.65198	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.68025	-0.3;-0.2	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	M	0.86502	2.82	0.80722	D	1	D;P	0.89917	1.0;0.593	P;B	0.58172	0.834;0.117	D	0.83654	0.0157	10	0.51188	T	0.08	-5.9192	14.5113	0.67789	0.0:0.0:1.0:0.0	.	71;71	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	H	71;33;71	ENSP00000364077:R71H;ENSP00000410630:R33H	ENSP00000262850:R71H	R	+	2	0	RRAGB	55765429	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	8.725000	0.91468	2.224000	0.72417	0.544000	0.68410	CGC		TCGA-IB-7651-01A-11D-2154-08	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	1	0	1	49	176	0	48	1	9.992097e-01	10	32	0	48	2		0	0	0	0	0	2	1	1	46	176	0	48	2								-3.851210	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SPIN3	169981	broad.mit.edu	37	X	57021054	57021054	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57021054G>A	ENST00000374919.3	-	2	649	c.327C>T	c.(325-327)gtC>gtT	p.V109V		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3			4					TATTAGGAAGGACTTCAAGTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000374919.3	1	1	hg19	CCDS43963.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	1	0	1	171	655	0	240	0	3.635723e-01	1	5	0	240	2		0	0	0	0	0	2	1	1	170	647	0	240	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAAH2	158584	broad.mit.edu	37	X	57318998	57318998	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57318998G>A	ENST00000374900.4	+	2	380	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2			22					ATGATCAATGGAATTGTCAAG	0.393000										HNSCC(52;0.14)														0							SO:0001583	missense			ENST00000374900.4	1	1	hg19	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.802073	0.31869	.	.	ENSG00000165591	ENST00000374900	T	0.54675	0.56	2.95	1.94	0.25998	Amidase signature domain (2);	0.068514	0.56097	U	0.000026	T	0.38427	0.1040	N	0.14661	0.345	0.24366	N	0.994852	B	0.29571	0.249	B	0.41135	0.348	T	0.37820	-0.9689	10	0.72032	D	0.01	.	6.5532	0.22446	0.0:0.4334:0.5666:0.0	.	87	Q6GMR7	FAAH2_HUMAN	E	87	ENSP00000364035:G87E	ENSP00000364035:G87E	G	+	2	0	FAAH2	57335723	1.000000	0.71417	0.978000	0.43139	0.943000	0.58893	1.589000	0.36644	1.215000	0.43411	0.594000	0.82650	GGA		TCGA-IB-7651-01A-11D-2154-08	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	1	0	1	95	312	0	107	1	9.999204e-01	40	8	0	107	2		0	0	0	0	0	2	1	1	93	307	0	106	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF9	23229	broad.mit.edu	37	X	62898340	62898340	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:62898340C>T	ENST00000253401.6	-	5	1474	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9			35					CTGCAAGAGGCGACAGGCCTC	0.478000																								0							SO:0001583	missense			ENST00000253401.6	1	1	hg19	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930612	0.92389	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89143	0.3518	10	0.66056	D	0.02	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	172;223;225;225	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	H	225;223;172;123;204	ENSP00000253401:R225H;ENSP00000364012:R223H;ENSP00000399994:R172H;ENSP00000364004:R123H;ENSP00000364006:R204H	ENSP00000253401:R225H	R	-	2	0	ARHGEF9	62815065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.201000	0.77847	2.087000	0.62958	0.600000	0.82982	CGC		TCGA-IB-7651-01A-11D-2154-08	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1	1	0	1	15	56	0	18	1	9.857169e-01	15	15	0	18	2		0	0	0	0	0	2	1	9.999331e-01	15	56	0	18	2								-12.764860	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999806	0.990000	1	9.900000e-01	1
ZC3H12B	340554	broad.mit.edu	37	X	64722815	64722815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722815C>T	ENST00000338957.4	+	5	2304	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B			29					CACTCCTATCCCTTGAGTAAC	0.557000																								0							SO:0001583	missense			ENST00000338957.4	1	1	hg19	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344645	0.61073	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.26660	1.72;1.72	5.94	5.06	0.68205	.	0.050747	0.85682	D	0.000000	T	0.37019	0.0988	L	0.54323	1.7	0.53688	D	0.999971	D	0.63880	0.993	P	0.52109	0.69	T	0.18304	-1.0341	10	0.87932	D	0	-22.6475	13.9642	0.64199	0.1526:0.8474:0.0:0.0	.	735	Q5HYM0	ZC12B_HUMAN	L	746;735;682	ENSP00000340839:P746L;ENSP00000408077:P735L	ENSP00000218172:P682L	P	+	2	0	ZC3H12B	64639540	0.943000	0.32029	1.000000	0.80357	0.996000	0.88848	3.482000	0.53186	1.200000	0.43188	0.506000	0.49869	CCC		TCGA-IB-7651-01A-11D-2154-08	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	1	0	1	45	150	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1	45	147	0	57	2								-4.201130	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
VSIG4	11326	broad.mit.edu	37	X	65253408	65253408	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65253408T>G	ENST00000374737.4	-	2	428	c.320A>C	c.(319-321)gAc>gCc	p.D107A	VSIG4_ENST00000412866.2_Missense_Mutation_p.D107A|VSIG4_ENST00000455586.2_Missense_Mutation_p.D107A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4			29					GTGGCTCCGGTCATCCATCTC	0.542000																								0							SO:0001583	missense			ENST00000374737.4	0	1	hg19	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.65|15.65	2.897185|2.897185	0.52121|0.52121	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866|ENST00000427538	D;D;D|.	0.88046|.	-2.33;-2.33;-2.33|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|.	0.73257|.	0.3564|.	M|M	0.81802|0.81802	2.56|2.56	0.39632|0.39632	D|D	0.970198|0.970198	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	T|.	0.76179|.	-0.3054|.	10|.	0.72032|.	D|.	0.01|.	-21.8408|-21.8408	9.9597|9.9597	0.41688|0.41688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	107;107;97;107;107|.	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279|.	.;.;.;.;VSIG4_HUMAN|.	A|C	107|33	ENSP00000363869:D107A;ENSP00000411581:D107A;ENSP00000394143:D107A|.	ENSP00000363869:D107A|.	D|X	-|-	2|3	0|0	VSIG4|VSIG4	65170133|65170133	0.997000|0.997000	0.39634|0.39634	0.864000|0.864000	0.33941|0.33941	0.435000|0.435000	0.31806|0.31806	3.569000|3.569000	0.53827|0.53827	1.614000|1.614000	0.50241|0.50241	0.481000|0.481000	0.45027|0.45027	GAC|TGA		TCGA-IB-7651-01A-11D-2154-08	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	0	0	0	15	735	0	188	0	9.885639e-01	0	358	0	188	2		0	0	0	0	0	2	1	9.998541e-01	14	724	0	188	2								-3.248705	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.230000	0.130000	0.370000	0.240000	0.248671	0.230000	0	1.800000e-01	3.100000e-01
HEPH	9843	broad.mit.edu	37	X	65420511	65420511	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420511T>C	ENST00000343002.2	+	11	2658	c.1994T>C	c.(1993-1995)gTg>gCg	p.V665A	HEPH_ENST00000336279.5_Missense_Mutation_p.V398A|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000519389.1_Missense_Mutation_p.V719A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A			Q9BQS7	HEPH_HUMAN	hephaestin			89					GGCAACACTGTGCAGCTTCAG	0.567000																								0							SO:0001583	missense			ENST00000343002.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.38	2.221411	0.39300	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	4.73	4.73	0.59995	Cupredoxin (2);	0.309310	0.31601	N	0.007363	D	0.98902	0.9628	L	0.52573	1.65	0.09310	N	0.999994	B;B	0.30179	0.14;0.271	B;B	0.26614	0.071;0.066	D	0.98994	1.0809	10	0.62326	D	0.03	.	12.2515	0.54601	0.0:0.0:0.0:1.0	.	719;665	E9PHN8;Q9BQS7	.;HEPH_HUMAN	A	719;668;398;668;665;622	ENSP00000430620:V719A;ENSP00000363859:V668A;ENSP00000337418:V398A;ENSP00000411687:V668A;ENSP00000343939:V665A;ENSP00000398078:V622A	ENSP00000337418:V398A	V	+	2	0	HEPH	65337236	0.968000	0.33430	0.978000	0.43139	0.961000	0.63080	7.559000	0.82265	1.569000	0.49696	0.486000	0.48141	GTG		TCGA-IB-7651-01A-11D-2154-08	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	1	0	1	36	142	0	53	1	1	35	100	0	53	2		0	0	0	0	0	2	1	1	35	136	0	52	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HEPH	9843	broad.mit.edu	37	X	65486305	65486305	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65486305G>A	ENST00000343002.2	+	20	3932	c.3268G>A	c.(3268-3270)Gaa>Aaa	p.E1090K	HEPH_ENST00000336279.5_Missense_Mutation_p.E823K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K|HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000519389.1_Missense_Mutation_p.E1144K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K			Q9BQS7	HEPH_HUMAN	hephaestin			89					AGACATTGAAGAAGGCAATGT	0.463000																								0							SO:0001583	missense			ENST00000343002.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.948	0.967504	0.18659	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99277	-5.67;-5.66;-5.66;-5.64;-5.66;-5.66	5.01	5.01	0.66863	.	0.714431	0.12167	N	0.493373	D	0.96682	0.8917	L	0.27053	0.805	0.09310	N	1	B;P;B	0.48998	0.01;0.918;0.094	B;B;B	0.40009	0.004;0.316;0.016	D	0.91369	0.5118	10	0.06099	T	0.92	.	13.9687	0.64225	0.0:0.0:1.0:0.0	.	1144;901;1090	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	K	1144;1093;823;1092;901;1090	ENSP00000430620:E1144K;ENSP00000363859:E1093K;ENSP00000337418:E823K;ENSP00000411687:E1092K;ENSP00000413211:E901K;ENSP00000343939:E1090K	ENSP00000337418:E823K	E	+	1	0	HEPH	65403030	0.923000	0.31300	0.023000	0.16930	0.011000	0.07611	1.912000	0.39946	2.315000	0.78130	0.600000	0.82982	GAA		TCGA-IB-7651-01A-11D-2154-08	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	1	0	1	49	179	0	81	1	1	84	128	0	81	2		0	0	0	0	0	2	1	1	48	175	0	80	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AR	367	broad.mit.edu	37	X	66937403	66937403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:66937403C>T	ENST00000374690.3	+	5	2781	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Nonsense_Mutation_p.R221*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor			67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)		Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CATGGGCTGGCGATCCTTCAC	0.532000									Androgen Insensitivity Syndrome															0		GRCh37	CM920998	AR	M		SO:0001587	stop_gained	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	ENST00000374690.3	0	1	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	35	5.473941	0.96291	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	.	.	.	4.99	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6126	0.45432	0.6588:0.3412:0.0:0.0	.	.	.	.	X	563;753;221	.	ENSP00000363822:R753X	R	+	1	2	AR	66854128	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.969000	0.49232	0.464000	0.27142	0.597000	0.82753	CGA		TCGA-IB-7651-01A-11D-2154-08	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	1	0	1	51	138	0	44	0	8.982839e-01	0	13	0	44	2		0	0	0	0	0	2	1	1	49	135	0	44	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OPHN1	4983	broad.mit.edu	37	X	67283811	67283811	+	Silent	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67283811C>A	ENST00000355520.5	-	21	2684	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1			31					TGATCTTGGTCCCTCCATCCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000355520.5	1	1	hg19	CCDS14388.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	0	0	1	40	177	0	60	1	6.297690e-01	5	6	0	60	2		0	0	0	0	0	2	1	1	38	177	0	59	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STARD8	9754	broad.mit.edu	37	X	67937991	67937991	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67937991A>G	ENST00000252336.6	+	5	1367	c.995A>G	c.(994-996)gAc>gGc	p.D332G	STARD8_ENST00000374597.3_Missense_Mutation_p.D332G|STARD8_ENST00000374599.3_Missense_Mutation_p.D412G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8			50					ATGTACCCAGACCTGGGGCCT	0.577000																								0							SO:0001583	missense			ENST00000252336.6	1	1	hg19	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646943	0.29246	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10477	2.87;2.89;2.87	4.4	4.4	0.53042	.	0.374529	0.28026	N	0.016882	T	0.13543	0.0328	L	0.56769	1.78	0.31714	N	0.639101	B;B	0.33238	0.403;0.281	B;B	0.36289	0.221;0.11	T	0.05305	-1.0893	10	0.44086	T	0.13	.	10.6264	0.45510	1.0:0.0:0.0:0.0	.	412;332	Q92502-2;Q92502	.;STAR8_HUMAN	G	332;412;332	ENSP00000252336:D332G;ENSP00000363727:D412G;ENSP00000363725:D332G	ENSP00000252336:D332G	D	+	2	0	STARD8	67854716	0.995000	0.38212	0.886000	0.34754	0.744000	0.42396	3.846000	0.55888	1.629000	0.50426	0.486000	0.48141	GAC		TCGA-IB-7651-01A-11D-2154-08	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	1	0	1	45	125	0	38	0	9.987658e-01	1	31	0	38	2		0	0	0	0	0	2	1	1	42	125	0	38	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STARD8	9754	broad.mit.edu	37	X	67938081	67938081	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938081G>C	ENST00000252336.6	+	5	1457	c.1085G>C	c.(1084-1086)aGc>aCc	p.S362T	STARD8_ENST00000374597.3_Missense_Mutation_p.S362T|STARD8_ENST00000374599.3_Missense_Mutation_p.S442T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8			50					GAGGCTCTCAGCCAGATGGAG	0.602000																								0							SO:0001583	missense			ENST00000252336.6	1	1	hg19	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150056	0.00328	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07216	3.21;3.21;3.21	3.34	-0.62	0.11567	.	1.318330	0.05395	N	0.539601	T	0.02767	0.0083	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43278	-0.9401	10	0.14656	T	0.56	.	3.6177	0.08083	0.1562:0.2409:0.4911:0.1118	.	442;362	Q92502-2;Q92502	.;STAR8_HUMAN	T	362;442;362	ENSP00000252336:S362T;ENSP00000363727:S442T;ENSP00000363725:S362T	ENSP00000252336:S362T	S	+	2	0	STARD8	67854806	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.407000	0.07178	-0.286000	0.09076	-1.045000	0.02358	AGC		TCGA-IB-7651-01A-11D-2154-08	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	1	0	0	12	161	0	55	0	3.337407e-01	0	16	0	55	2		0	0	0	0	0	2	1	9.991028e-01	12	157	0	55	2								-16.364690	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.820000	0.450000	1.000000	1.000000	0.812186	0.820000	0	6.200000e-01	1
STARD8	9754	broad.mit.edu	37	X	67938201	67938201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938201C>A	ENST00000252336.6	+	5	1577	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D	STARD8_ENST00000374597.3_Missense_Mutation_p.A402D|STARD8_ENST00000374599.3_Missense_Mutation_p.A482D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8			50					CAGGAAGAGGCTGAggccccg	0.687000																								0							SO:0001583	missense			ENST00000252336.6	0	1	hg19	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	7.956	0.745833	0.15710	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10192	2.9;2.91;2.9	4.05	4.05	0.47172	.	0.746254	0.11133	N	0.596109	T	0.17916	0.0430	L	0.36672	1.1	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.60949	0.881;0.763	T	0.11251	-1.0595	10	0.13853	T	0.58	.	11.3699	0.49694	0.0:1.0:0.0:0.0	.	482;402	Q92502-2;Q92502	.;STAR8_HUMAN	D	402;482;402	ENSP00000252336:A402D;ENSP00000363727:A482D;ENSP00000363725:A402D	ENSP00000252336:A402D	A	+	2	0	STARD8	67854926	0.231000	0.23751	0.019000	0.16419	0.024000	0.10985	0.871000	0.28023	1.959000	0.56917	0.600000	0.82982	GCT		TCGA-IB-7651-01A-11D-2154-08	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	1	0	0	16	105	0	21	0	3.578479e-01	0	9	0	21	2		0	0	0	0	0	2	1	9.999545e-01	16	105	0	20	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.920000	1.000000	1.000000	0.995501	0.990000	1	9.900000e-01	1
EFNB1	1947	broad.mit.edu	37	X	68060137	68060137	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68060137C>T	ENST00000204961.4	+	5	1461	c.681C>T	c.(679-681)agC>agT	p.S227S		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1			22					GGGGCAGCAGCGGGGACCCTG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000204961.4	1	1	hg19	CCDS14391.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	1	0	1	41	152	0	45	1	1	283	77	0	45	2		0	0	0	0	0	2	1	1	39	149	0	44	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PJA1	64219	broad.mit.edu	37	X	68382464	68382464	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382464C>A	ENST00000361478.1	-	2	995	c.618G>T	c.(616-618)caG>caT	p.Q206H	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000374583.1_Missense_Mutation_p.Q206H|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase			21					CAGAAGACGACTGTGAGGCCA	0.542000																								0							SO:0001583	missense			ENST00000361478.1	1	1	hg19	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	c	3.484	-0.105231	0.06967	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14893	2.47;2.47;2.47	2.68	1.76	0.24704	.	1.378800	0.05464	U	0.551802	T	0.17066	0.0410	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32798	-0.9893	10	0.49607	T	0.09	.	3.5115	0.07709	0.0:0.5748:0.2667:0.1585	.	206	Q8NG27	PJA1_HUMAN	H	121;206;206;151	ENSP00000363711:Q206H;ENSP00000355014:Q206H;ENSP00000363699:Q151H	ENSP00000355014:Q206H	Q	-	3	2	PJA1	68299189	0.634000	0.27190	0.007000	0.13788	0.525000	0.34531	0.240000	0.18042	0.553000	0.29044	0.460000	0.39030	CAG		TCGA-IB-7651-01A-11D-2154-08	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	1	0	0	11	160	0	34	0	8.276291e-01	0	49	0	34	2		0	0	0	0	0	2	1	9.984564e-01	11	159	0	33	2								-15.090090	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.760000	0.410000	1.000000	1.000000	0.768624	0.760000	0	5.700000e-01	1
PJA1	64219	broad.mit.edu	37	X	68382676	68382676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382676G>A	ENST00000361478.1	-	2	783	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase			21					ACTGGCGGTCGCTCAACAGGC	0.522000																								0							SO:0001587	stop_gained			ENST00000361478.1	0	1	hg19	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514824	0.96402	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	.	.	.	3.12	3.12	0.35913	.	1.339660	0.05905	U	0.630712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.011	0.24863	0.0:0.0:0.7295:0.2705	.	.	.	.	X	81;136;136;81	.	ENSP00000355014:R136X	R	-	1	2	PJA1	68299401	0.003000	0.15002	0.900000	0.35374	0.990000	0.78478	0.313000	0.19415	1.875000	0.54330	0.464000	0.42555	CGA		TCGA-IB-7651-01A-11D-2154-08	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	1	0	0	52	169	0	51	1	9.999994e-01	4	70	0	51	2		0	0	0	0	0	2	1	1	51	164	0	51	2								-20.000000	1	0	121410	1	30	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PJA1	64219	broad.mit.edu	37	X	68382741	68382741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382741G>A	ENST00000361478.1	-	2	718	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000374583.1_Missense_Mutation_p.A114V|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase			21					ATGTCCATAGGCCATTCCTCT	0.507000																								0							SO:0001583	missense			ENST00000361478.1	1	1	hg19	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399000	0.62177	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.13538	2.58;2.58;2.58	3.25	3.25	0.37280	.	0.160475	0.27821	U	0.017709	T	0.15435	0.0372	L	0.42245	1.32	0.29973	N	0.8184	P	0.51057	0.941	P	0.46172	0.506	T	0.03364	-1.1044	10	0.51188	T	0.08	-7.9662	11.8051	0.52150	0.0:0.0:1.0:0.0	.	114	Q8NG27	PJA1_HUMAN	V	59;114;114;59	ENSP00000363711:A114V;ENSP00000355014:A114V;ENSP00000363699:A59V	ENSP00000355014:A114V	A	-	2	0	PJA1	68299466	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	5.735000	0.68587	1.925000	0.55765	0.534000	0.68092	GCC		TCGA-IB-7651-01A-11D-2154-08	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	1	0	1	47	322	0	77	1	9.932730e-01	2	53	0	77	2		0	0	0	0	0	2	1	1	46	314	0	77	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999858	0.990000	1	9.900000e-01	1
FAM155B	27112	broad.mit.edu	37	X	68725452	68725452	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68725452G>A	ENST00000252338.4	+	1	369	c.327G>A	c.(325-327)gcG>gcA	p.A109A	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B			16					agcccagcgcgcccccAGGCA	0.816000																								0							SO:0001819	synonymous_variant			ENST00000252338.4	0	1	hg19	CCDS35317.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	0	0	0	11	40	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	9.988288e-01	11	39	0	12	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999119	0.990000	1	9.900000e-01	1
EDA	1896	broad.mit.edu	37	X	68836217	68836217	+	Missense_Mutation	SNP	G	G	A	rs41539891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68836217G>A	ENST00000374552.4	+	1	307	c.65G>A	c.(64-66)aGc>aAc	p.S22N	EDA_ENST00000524573.1_Missense_Mutation_p.S22N|EDA_ENST00000374553.2_Missense_Mutation_p.S22N|EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000338901.3_Missense_Mutation_p.S22N|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000527388.1_Missense_Mutation_p.S22N	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A			14					GAGCGAGGGAGCCAGGGCTGC	0.716000																								0		GRCh37	CD011600	EDA	D		SO:0001583	missense			ENST00000374552.4	0	1	hg19	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010706	0.19277	.	.	ENSG00000158813	ENST00000513754;ENST00000338901;ENST00000374552;ENST00000374553;ENST00000525810;ENST00000527388;ENST00000524573	D;D;D;D;D;D	0.97791	-4.54;-3.69;-3.73;-4.5;-4.54;-3.58	4.56	1.84	0.25277	.	0.635376	0.15579	N	0.255024	D	0.92925	0.7749	N	0.19112	0.55	0.19775	N	0.999951	B;B;B;B;B;B;B;B	0.13594	0.001;0.0;0.001;0.003;0.001;0.003;0.008;0.003	B;B;B;B;B;B;B;B	0.11329	0.001;0.001;0.001;0.004;0.002;0.002;0.006;0.002	D	0.86464	0.1781	10	0.72032	D	0.01	-1.5345	6.1542	0.20328	0.3371:0.0:0.6629:0.0	.	22;22;22;22;22;22;22;22	Q92838-9;Q92838;Q92838-3;Q92838-8;Q92838-6;Q92838-2;Q92838-7;Q92838-5	.;EDA_HUMAN;.;.;.;.;.;.	N	22	ENSP00000340611:S22N;ENSP00000363680:S22N;ENSP00000363681:S22N;ENSP00000434195:S22N;ENSP00000434861:S22N;ENSP00000432585:S22N	ENSP00000340611:S22N	S	+	2	0	EDA	68752942	1.000000	0.71417	0.928000	0.36995	0.366000	0.29705	2.389000	0.44407	0.061000	0.16311	-0.208000	0.12717	AGC		TCGA-IB-7651-01A-11D-2154-08	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	1	0	0	23	223	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	9.999730e-01	15	153	0	13	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.720000	1.000000	1.000000	0.962438	0.990000	1	8.900000e-01	1
DGAT2L6	347516	broad.mit.edu	37	X	69420280	69420280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69420280C>T	ENST00000333026.3	+	4	543	c.443C>T	c.(442-444)cCa>cTa	p.P148L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6			12					TTTTGGATCCCAATTGTGCGA	0.408000																								0							SO:0001583	missense			ENST00000333026.3	1	1	hg19	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902020	0.72754	.	.	ENSG00000184210	ENST00000333026	D	0.96745	-4.11	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	D	0.98444	0.9482	H	0.95079	3.62	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	D	0.99425	1.0934	10	0.72032	D	0.01	-4.8718	14.8682	0.70434	0.0:1.0:0.0:0.0	.	148	Q6ZPD8	DG2L6_HUMAN	L	148	ENSP00000328036:P148L	ENSP00000328036:P148L	P	+	2	0	DGAT2L6	69337005	1.000000	0.71417	0.985000	0.45067	0.375000	0.29983	6.854000	0.75440	2.390000	0.81377	0.600000	0.82982	CCA		TCGA-IB-7651-01A-11D-2154-08	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	1	0	1	43	180	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1	42	175	0	60	2								-3.116281	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARR3	407	broad.mit.edu	37	X	69497300	69497300	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69497300C>A	ENST00000307959.8	+	9	581	c.530C>A	c.(529-531)cCt>cAt	p.P177H	ARR3_ENST00000374495.3_Missense_Mutation_p.P177H	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)			16					GAGGCAGGCCCTGGCCCCTCA	0.582000																								0							SO:0001583	missense			ENST00000307959.8	1	1	hg19	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148748	0.78001	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.15718	2.4;2.79	4.37	4.37	0.52481	Immunoglobulin E-set (1);	0.164200	0.56097	D	0.000036	T	0.38321	0.1036	M	0.79258	2.445	0.51012	D	0.999904	D;D	0.67145	0.996;0.991	P;P	0.58172	0.712;0.834	T	0.42481	-0.9449	10	0.72032	D	0.01	.	15.4181	0.74987	0.0:1.0:0.0:0.0	.	177;177	P36575;P36575-2	ARRC_HUMAN;.	H	177	ENSP00000363619:P177H;ENSP00000311538:P177H	ENSP00000311538:P177H	P	+	2	0	ARR3	69414025	0.972000	0.33761	0.987000	0.45799	0.666000	0.39218	3.340000	0.52143	1.903000	0.55091	0.513000	0.50165	CCT		TCGA-IB-7651-01A-11D-2154-08	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	1	0	1	31	118	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	31	116	0	46	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
KIF4A	24137	broad.mit.edu	37	X	69596055	69596055	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69596055G>A	ENST00000374403.3	+	18	2111	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	KIF4A_ENST00000374388.3_Missense_Mutation_p.E677K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A			51					ACAGTTAAAAGAACGAGTAAG	0.378000																								0							SO:0001583	missense			ENST00000374403.3	1	1	hg19	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538489	0.85917	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.11821	2.74;2.74	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000021	T	0.10981	0.0268	N	0.20401	0.57	0.80722	D	1	P;B	0.46706	0.883;0.024	B;B	0.43867	0.434;0.047	T	0.24657	-1.0154	10	0.14252	T	0.57	.	16.1063	0.81225	0.0:0.0:1.0:0.0	.	677;677	O95239;O95239-2	KIF4A_HUMAN;.	K	677	ENSP00000363509:E677K;ENSP00000363524:E677K	ENSP00000363509:E677K	E	+	1	0	KIF4A	69512780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.484000	0.90445	2.347000	0.79759	0.594000	0.82650	GAA		TCGA-IB-7651-01A-11D-2154-08	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	1	0	0	9	137	0	50	1	4.330936e-01	3	19	0	50	2		0	0	0	0	0	2	1	9.946846e-01	9	137	0	50	2								-12.954110	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.730000	0.370000	1.000000	1.000000	0.744303	0.730000	0	5.300000e-01	9.900000e-01
DLG3	1741	broad.mit.edu	37	X	69719830	69719830	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69719830C>T	ENST00000374360.3	+	16	2309	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG3_ENST00000542398.1_Silent_p.I241I|DLG3_ENST00000194900.4_Silent_p.I724I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000374355.3_Silent_p.I387I	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)			22	Renal(35;0.156)				ACAAGTTCATCGAGGCGGGCC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000374360.3	1	1	hg19	CCDS14403.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	1	0	1	37	120	0	38	1	1	121	36	0	38	2		0	0	0	0	0	2	1	1	36	115	0	37	2								-20.000000	1	1	121406	219	51	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX11	56159	broad.mit.edu	37	X	69749792	69749792	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69749792C>T	ENST00000395889.2	-	30	2778	c.2623G>A	c.(2623-2625)Gta>Ata	p.V875I	TEX11_ENST00000344304.3_Missense_Mutation_p.V875I|TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000374320.2_Missense_Mutation_p.V550I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11			48	Renal(35;0.156)				AACATAAGTACTCCGGTATTC	0.438000																								0							SO:0001583	missense			ENST00000395889.2	1	1	hg19	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621150	0.00820	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.38887	1.7;1.69;1.11;1.69	4.33	1.86	0.25419	.	0.228496	0.32533	N	0.005965	T	0.10337	0.0253	N	0.00471	-1.455	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31806	-0.9930	9	.	.	.	-9.7909	5.8574	0.18727	0.0:0.3422:0.0:0.6578	.	860;875	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	860;875;550;875	ENSP00000363453:V860I;ENSP00000379226:V875I;ENSP00000363440:V550I;ENSP00000340995:V875I	.	V	-	1	0	TEX11	69666517	1.000000	0.71417	0.457000	0.27056	0.563000	0.35712	1.370000	0.34238	0.541000	0.28827	-0.428000	0.05917	GTA		TCGA-IB-7651-01A-11D-2154-08	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1	1	0	1	103	314	0	74	0	7.955141e-01	0	11	0	74	2		0	0	0	0	0	2	1	1	102	309	0	73	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TEX11	56159	broad.mit.edu	37	X	69843825	69843825	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69843825C>T	ENST00000395889.2	-	21	1926	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	TEX11_ENST00000344304.3_Missense_Mutation_p.A591T|TEX11_ENST00000374333.2_Missense_Mutation_p.A576T|TEX11_ENST00000374320.2_Missense_Mutation_p.A266T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11			48	Renal(35;0.156)				GGCATTTCAGCAATTTTTGGA	0.308000																								0							SO:0001583	missense			ENST00000395889.2	1	1	hg19	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553547	0.03996	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.78	-6.73	0.01749	.	1.295100	0.05298	N	0.522521	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.039	T	0.16600	-1.0397	9	.	.	.	.	0.3425	0.00336	0.2225:0.2971:0.2025:0.2779	.	576;591	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	576;591;266;591	ENSP00000363453:A576T;ENSP00000379226:A591T;ENSP00000363440:A266T;ENSP00000340995:A591T	.	A	-	1	0	TEX11	69760550	0.025000	0.19082	0.000000	0.03702	0.016000	0.09150	0.073000	0.14640	-1.777000	0.01283	-0.465000	0.05216	GCT		TCGA-IB-7651-01A-11D-2154-08	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1	1	0	1	66	254	0	111	0	0	1	0	0	111	2		0	0	0	0	0	2	1	1	66	250	0	110	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MED12	9968	broad.mit.edu	37	X	70348222	70348222	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70348222C>A	ENST00000374080.3	+	23	3318	c.3286C>A	c.(3286-3288)Ctt>Att	p.L1096I	MED12_ENST00000374102.1_Missense_Mutation_p.L1096I|MED12_ENST00000333646.6_Missense_Mutation_p.L1096I			Q93074	MED12_HUMAN	mediator complex subunit 12			420	Renal(35;0.156)				GCTAGGAGTGCTTAAGGCCTT	0.507000			M, S		uterine leiomyoma		Opitz-Kaveggia Syndrome								Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0							SO:0001583	missense			ENST00000374080.3	1	1	hg19	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.291488	0.80914	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.53561	1.675	0.80722	D	1	D;D;P;D	0.65815	0.995;0.988;0.815;0.98	P;P;P;P	0.62435	0.902;0.885;0.551;0.881	T	0.58923	-0.7550	10	0.49607	T	0.09	-12.9991	17.1584	0.86797	0.0:1.0:0.0:0.0	.	1096;943;1096;1096	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	I	1096;1096;1096;1096;1064	ENSP00000333125:L1096I;ENSP00000363215:L1096I;ENSP00000363193:L1096I;ENSP00000414203:L1064I	ENSP00000333125:L1096I	L	+	1	0	MED12	70264947	1.000000	0.71417	0.156000	0.22583	0.994000	0.84299	7.100000	0.76989	2.318000	0.78349	0.597000	0.82753	CTT		TCGA-IB-7651-01A-11D-2154-08	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	1	0	1	160	461	0	142	1	9.999992e-01	28	32	0	142	2		0	0	0	0	0	2	1	1	158	456	0	142	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NLGN3	54413	broad.mit.edu	37	X	70375079	70375079	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70375079G>A	ENST00000358741.3	+	5	896	c.593G>A	c.(592-594)gGt>gAt	p.G198D	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G158D|NLGN3_ENST00000374051.3_Missense_Mutation_p.G178D	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3			37	Renal(35;0.156)				CGGGACAGTGGTGCTAAACCC	0.602000													Esophageal Squamous(103;760 1488 16849 22250 40351)											0							SO:0001583	missense			ENST00000358741.3	0	1	hg19	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369061	0.42003	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	N	0.21545	0.675	0.58432	D	0.999996	B;B;B	0.32653	0.053;0.022;0.379	B;B;B	0.41646	0.362;0.029;0.248	T	0.56226	-0.8014	10	0.46703	T	0.11	.	16.4607	0.84044	0.0:0.0:1.0:0.0	.	158;158;178	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	D	158;61;178;158;198	ENSP00000445298:G158D;ENSP00000363163:G178D;ENSP00000379196:G158D;ENSP00000351591:G198D	ENSP00000351591:G198D	G	+	2	0	NLGN3	70291804	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.399000	0.79935	2.054000	0.61138	0.544000	0.68410	GGT		TCGA-IB-7651-01A-11D-2154-08	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	0	0	0	6	209	0	48	0	1.089758e-02	0	5	0	48	2		0	0	0	0	0	2	1	9.640708e-01	6	206	0	48	2								-7.773539	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.340000	0.140000	0.650000	0.320000	0.370891	0.340000	0	2.300000e-01	5.000000e-01
ZMYM3	9203	broad.mit.edu	37	X	70471421	70471421	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70471421T>G	ENST00000353904.2	-	3	885	c.698A>C	c.(697-699)aAg>aCg	p.K233T	ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K233T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3			64	Renal(35;0.156)				TTCAGGCGGCTTCTCACTCGC	0.597000																								0							SO:0001583	missense			ENST00000353904.2	1	1	hg19	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	11.37	1.618980	0.28801	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.47177	1.45;0.87;1.45;1.43;1.43;0.85;0.85	4.3	1.71	0.24356	.	1.156830	0.06391	N	0.717056	T	0.27278	0.0669	N	0.19112	0.55	0.24063	N	0.996006	B;B;B	0.29716	0.255;0.065;0.039	B;B;B	0.26614	0.071;0.02;0.009	T	0.22034	-1.0228	10	0.19590	T	0.45	-11.5712	2.1559	0.03811	0.1405:0.0922:0.2733:0.4939	.	233;233;233	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	T	233	ENSP00000322845:K233T;ENSP00000363110:K233T;ENSP00000343909:K233T;ENSP00000363096:K233T;ENSP00000363100:K233T;ENSP00000363094:K233T;ENSP00000363093:K233T	ENSP00000322845:K233T	K	-	2	0	ZMYM3	70388146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.613000	0.36900	0.541000	0.28827	0.347000	0.21830	AAG		TCGA-IB-7651-01A-11D-2154-08	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	0	0	1	6	25	0	13	1	9.988776e-01	44	26	0	13	2		0	0	0	0	0	2	1	9.703426e-01	6	25	0	13	2								-13.826830	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.820000	1.000000	1.000000	0.989390	0.990000	1	9.900000e-01	1
TAF1	6872	broad.mit.edu	37	X	70586298	70586298	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70586298A>G	ENST00000373790.4	+	1	185	c.134A>G	c.(133-135)aAc>aGc	p.N45S	TAF1_ENST00000276072.3_Missense_Mutation_p.N45S|TAF1_ENST00000423759.1_Missense_Mutation_p.N45S|TAF1_ENST00000449580.1_Missense_Mutation_p.N45S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa			124	Renal(35;0.156)	all_lung(315;0.000321)			CTTTTCGGCAACATCAATGGA	0.612000																								0							SO:0001583	missense			ENST00000373790.4	1	1	hg19	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.836481	0.91117	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.49139	1.05;1.2;0.83;0.79	4.99	4.99	0.66335	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.80616	2.505	0.58432	D	0.999995	P;D	0.61697	0.897;0.99	P;D	0.63703	0.498;0.917	T	0.72364	-0.4316	10	0.87932	D	0	.	12.403	0.55424	1.0:0.0:0.0:0.0	.	45;45	P21675;P21675-2	TAF1_HUMAN;.	S	45	ENSP00000362895:N45S;ENSP00000389000:N45S;ENSP00000406549:N45S;ENSP00000276072:N45S	ENSP00000276072:N45S	N	+	2	0	TAF1	70503023	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.385000	0.90163	1.790000	0.52503	0.414000	0.27820	AAC		TCGA-IB-7651-01A-11D-2154-08	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	1	0	0	44	147	0	45	1	9.490266e-01	15	4	0	45	2		0	0	0	0	0	2	1	1	44	145	0	44	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TAF1	6872	broad.mit.edu	37	X	70595105	70595105	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70595105G>T	ENST00000373790.4	+	4	552	c.501G>T	c.(499-501)aaG>aaT	p.K167N	TAF1_ENST00000276072.3_Missense_Mutation_p.K167N|TAF1_ENST00000423759.1_Missense_Mutation_p.K167N|TAF1_ENST00000449580.1_Missense_Mutation_p.K167N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa			124	Renal(35;0.156)	all_lung(315;0.000321)			GACCAATGAAGAAGGATAAGG	0.433000																								0							SO:0001583	missense			ENST00000373790.4	1	1	hg19	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307933	0.40895	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09911	2.95;3.01;2.98;2.93	4.83	3.05	0.35203	.	0.052619	0.85682	D	0.000000	T	0.08537	0.0212	L	0.39633	1.23	0.40498	D	0.980611	B;B	0.26258	0.039;0.145	B;B	0.21708	0.016;0.036	T	0.26710	-1.0095	10	0.27785	T	0.31	.	8.1709	0.31254	0.4141:0.0:0.5859:0.0	.	167;167	P21675;P21675-2	TAF1_HUMAN;.	N	167	ENSP00000362895:K167N;ENSP00000389000:K167N;ENSP00000406549:K167N;ENSP00000276072:K167N	ENSP00000276072:K167N	K	+	3	2	TAF1	70511830	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	2.794000	0.47853	0.406000	0.25560	0.429000	0.28392	AAG		TCGA-IB-7651-01A-11D-2154-08	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	1	0	1	61	260	0	68	1	9.980743e-01	16	27	0	68	2		0	0	0	0	0	2	1	1	61	246	0	67	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OGT	8473	broad.mit.edu	37	X	70777093	70777093	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70777093A>G	ENST00000373719.3	+	11	1586	c.1369A>G	c.(1369-1371)Aaa>Gaa	p.K457E	OGT_ENST00000373701.3_Missense_Mutation_p.K447E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase			43	Renal(35;0.156)				CACGGCTCTGAAACTTAAGCC	0.378000																								0							SO:0001583	missense			ENST00000373719.3	1	1	hg19	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.879038	0.72294	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.15952	2.38;2.38	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.04655	-0.195	0.80722	D	1	D;P;D	0.58620	0.983;0.615;0.966	D;B;P	0.64877	0.93;0.391;0.832	T	0.36744	-0.9735	10	0.16896	T	0.51	-38.1856	15.0385	0.71767	1.0:0.0:0.0:0.0	.	331;447;457	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	E	457;447	ENSP00000362824:K457E;ENSP00000362805:K447E	ENSP00000362805:K447E	K	+	1	0	OGT	70693818	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.266000	0.95659	1.934000	0.56057	0.481000	0.45027	AAA		TCGA-IB-7651-01A-11D-2154-08	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	1	0	1	11	63	0	29	1	9.999541e-01	49	73	0	29	2		0	0	0	0	0	2	1	9.985576e-01	11	61	0	28	2								-19.347040	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.900000	1.000000	1.000000	0.994224	0.990000	1	9.900000e-01	1
ACRC	93953	broad.mit.edu	37	X	70824397	70824397	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70824397C>T	ENST00000373695.1	+	7	1807	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	ACRC_ENST00000373696.3_Missense_Mutation_p.P424S			Q96QF7	ACRC_HUMAN	acidic repeat containing			54	Renal(35;0.156)				TGTGGAGCCACCGAGGAAAAG	0.463000																								0							SO:0001583	missense			ENST00000373695.1	0	1	hg19	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	3.952	-0.012026	0.07727	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30448	1.53;1.53	0.656	0.656	0.17844	.	.	.	.	.	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	8	0.08179	T	0.78	.	.	.	.	.	424	Q96QF7	ACRC_HUMAN	S	424	ENSP00000362800:P424S;ENSP00000362799:P424S	ENSP00000362799:P424S	P	+	1	0	ACRC	70741122	0.001000	0.12720	0.008000	0.14137	0.007000	0.05969	-1.000000	0.03693	0.559000	0.29153	0.271000	0.19318	CCG		TCGA-IB-7651-01A-11D-2154-08	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1	1	0	1	11	36	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	9.990064e-01	11	36	0	10	2								-19.997560	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999386	0.990000	1	9.900000e-01	1
RGAG4	340526	broad.mit.edu	37	X	71350291	71350291	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R367M	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4			24	Renal(35;0.156)				CTGAAAAGCCCTCATGCGCTT	0.488000																								0							SO:0001583	missense			ENST00000545866.1	1	1	hg19	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261320	0.39995	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.15952	2.38;2.38	4.13	1.3	0.21679	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	B	0.44044	0.439	T	0.20806	-1.0264	8	.	.	.	-0.8425	6.8825	0.24181	0.0:0.5677:0.3302:0.1021	.	367	Q5HYW3	RGAG4_HUMAN	M	367	ENSP00000441366:R367M;ENSP00000418667:R367M	.	R	-	2	0	RGAG4	71267016	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	0.305000	0.19254	0.133000	0.18654	0.600000	0.82982	AGG		TCGA-IB-7651-01A-11D-2154-08	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	1	0	0	32	85	0	15	1	9.985455e-01	2	29	0	15	2		0	0	0	0	0	2	1	1	29	81	0	15	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
RGAG4	340526	broad.mit.edu	37	X	71351008	71351008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71351008G>A	ENST00000545866.1	-	1	750	c.383C>T	c.(382-384)cCg>cTg	p.P128L	NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.P128L	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4			24	Renal(35;0.156)				CAGCGCCGGCGGGGGCGGGAT	0.672000																								0							SO:0001583	missense			ENST00000545866.1	1	1	hg19	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	0.848	-0.739485	0.03088	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12672	2.66;2.66	4.32	-2.01	0.07410	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.42275	-0.9461	8	.	.	.	-0.0463	3.2472	0.06801	0.3953:0.0:0.2926:0.3121	.	128	Q5HYW3	RGAG4_HUMAN	L	128	ENSP00000441366:P128L;ENSP00000418667:P128L	.	P	-	2	0	RGAG4	71267733	0.040000	0.19996	0.000000	0.03702	0.015000	0.08874	-0.106000	0.10890	-0.650000	0.05423	-0.909000	0.02823	CCG		TCGA-IB-7651-01A-11D-2154-08	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	1	0	0	26	63	0	13	0	2.145863e-01	0	3	0	13	2		0	0	0	0	0	2	1	1	26	59	0	12	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NHSL2	340527	broad.mit.edu	37	X	71359770	71359770	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71359770G>A	ENST00000373677.1	+	2	2536	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q|NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q			Q5HYW2	NHSL2_HUMAN	NHS-like 2			28	Renal(35;0.156)				ATCTCCATCCGAAGCAAAACT	0.483000																								0							SO:0001583	missense			ENST00000373677.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.14	1.268020	0.23136	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47177	1.46;0.87;0.85;0.87	5.93	4.02	0.46733	.	0.336461	0.23211	N	0.050675	T	0.37210	0.0995	L	0.51422	1.61	0.27091	N	0.962858	B;B;B	0.21381	0.032;0.055;0.055	B;B;B	0.12837	0.008;0.008;0.008	T	0.36407	-0.9749	10	0.59425	D	0.04	-0.4929	4.5488	0.12098	0.2009:0.1782:0.6209:0.0	.	791;560;425	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	Q	791;425;560;425	ENSP00000444617:R791Q;ENSP00000362781:R425Q;ENSP00000424079:R560Q;ENSP00000444914:R425Q	ENSP00000362781:R425Q	R	+	2	0	NHSL2	71276495	1.000000	0.71417	0.974000	0.42286	0.697000	0.40408	2.671000	0.46842	1.214000	0.43395	0.600000	0.82982	CGA		TCGA-IB-7651-01A-11D-2154-08	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	1	0	1	35	114	0	31	0	8.081047e-01	1	11	0	31	2		0	0	0	0	0	2	1	1	35	111	0	31	2								-19.999980	1	1	121408	3	31	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NHSL2	340527	broad.mit.edu	37	X	71360063	71360063	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71360063C>T	ENST00000373677.1	+	2	2829	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S|NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S			Q5HYW2	NHSL2_HUMAN	NHS-like 2			28	Renal(35;0.156)				CCACAAGCCACCATCTGTTCC	0.547000																								0							SO:0001583	missense			ENST00000373677.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.521	1.108197	0.20714	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47528	1.48;0.84;0.84;0.84	5.35	3.52	0.40303	.	0.397307	0.22843	N	0.054947	T	0.41119	0.1145	L	0.59436	1.845	0.39895	D	0.973823	B;B;B	0.24426	0.061;0.103;0.061	B;B;B	0.23419	0.046;0.046;0.029	T	0.26538	-1.0100	10	0.36615	T	0.2	-1.8731	7.8044	0.29193	0.1603:0.7517:0.0:0.088	.	889;658;523	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	S	889;523;658;523	ENSP00000444617:P889S;ENSP00000362781:P523S;ENSP00000424079:P658S;ENSP00000444914:P523S	ENSP00000362781:P523S	P	+	1	0	NHSL2	71276788	1.000000	0.71417	0.931000	0.37212	0.720000	0.41350	1.944000	0.40263	0.677000	0.31305	0.600000	0.82982	CCA		TCGA-IB-7651-01A-11D-2154-08	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	1	0	1	25	195	0	67	0	2.853929e-01	0	9	0	67	2		0	0	0	0	0	2	1	9.999999e-01	25	193	0	67	2								-11.700940	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.890000	1.000000	1.000000	0.993855	0.990000	1	9.900000e-01	1
NAP1L2	4674	broad.mit.edu	37	X	72434219	72434219	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72434219G>A	ENST00000373517.3	-	1	465	c.110C>T	c.(109-111)gCc>gTc	p.A37V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	p.A37V(1)		29	Renal(35;0.156)				CCCAGCAGCGGCATCTTCACC	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373517.3	1	1	hg19	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	0.254	-1.004577	0.02112	.	.	ENSG00000186462	ENST00000373517	D	0.91631	-2.88	3.1	1.25	0.21368	.	0.493565	0.19867	N	0.104294	T	0.77384	0.4122	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61907	-0.6966	10	0.12766	T	0.61	0.241	4.486	0.11790	0.347:0.0:0.653:0.0	.	37	Q9ULW6	NP1L2_HUMAN	V	37	ENSP00000362616:A37V	ENSP00000362616:A37V	A	-	2	0	NAP1L2	72350944	0.686000	0.27661	0.001000	0.08648	0.199000	0.23934	0.186000	0.16978	0.187000	0.20147	0.600000	0.82982	GCC		TCGA-IB-7651-01A-11D-2154-08	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	0	0	1	82	281	1	68	0	6.391106e-01	0	9	1	68	2		0	0	0	0	0	2	1	1	80	266	1	68	17								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
STS	412	broad.mit.edu	37	X	7252125	7252125	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:7252125C>A	ENST00000217961.4	+	9	1575	c.1355C>A	c.(1354-1356)gCt>gAt	p.A452D		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S			27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)		Norelgestromin(DB06713)	TACTTAAATGCTGTGCGCTGG	0.478000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000217961.4	1	1	hg19	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508259	0.85282	.	.	ENSG00000101846	ENST00000217961	D	0.97256	-4.31	3.95	3.95	0.45737	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.97758	4.07	0.53688	D	0.999974	D	0.76494	0.999	D	0.75484	0.986	D	0.99164	1.0862	10	0.87932	D	0	.	12.8957	0.58098	0.0:1.0:0.0:0.0	.	452	P08842	STS_HUMAN	D	452	ENSP00000217961:A452D	ENSP00000217961:A452D	A	+	2	0	STS	7262125	1.000000	0.71417	0.777000	0.31699	0.960000	0.62799	6.102000	0.71486	1.586000	0.49944	0.513000	0.50165	GCT		TCGA-IB-7651-01A-11D-2154-08	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	1	0	1	108	327	0	92	1	9.999867e-01	21	31	0	92	2		0	0	0	0	0	2	1	1	107	322	0	89	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDX4	1046	broad.mit.edu	37	X	72667226	72667226	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72667226C>T	ENST00000373514.2	+	1	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4			18	Renal(35;0.156)				AATTTCGCTGCGGCACCGGCT	0.647000																								0							SO:0001583	missense			ENST00000373514.2	1	1	hg19	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	3.372	-0.128297	0.06753	.	.	ENSG00000131264	ENST00000373514	T	0.48522	0.81	2.57	1.69	0.24217	Caudal-like activation domain (1);	0.315565	0.30630	N	0.009220	T	0.37019	0.0988	L	0.41961	1.31	0.23162	N	0.9982	B	0.09022	0.002	B	0.09377	0.004	T	0.27971	-1.0058	10	0.48119	T	0.1	-4.2406	9.9804	0.41811	0.0:0.8693:0.0:0.1307	.	46	O14627	CDX4_HUMAN	V	46	ENSP00000362613:A46V	ENSP00000362613:A46V	A	+	2	0	CDX4	72583951	0.988000	0.35896	0.003000	0.11579	0.005000	0.04900	4.335000	0.59298	0.078000	0.16900	-1.701000	0.00721	GCG		TCGA-IB-7651-01A-11D-2154-08	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	1	0	0	16	165	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	9.999295e-01	16	159	0	39	2								-3.142733	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.620000	1.000000	1.000000	0.933210	0.990000	1	8.100000e-01	1
KIAA2022	340533	broad.mit.edu	37	X	73960434	73960434	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73960434A>C	ENST00000055682.6	-	3	4569	c.3958T>G	c.(3958-3960)Ttg>Gtg	p.L1320V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022			109					ATGTTGGACAAGATATAGGAA	0.527000																								0							SO:0001583	missense			ENST00000055682.6	1	1	hg19	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672855	0.47781	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.42900	0.96;0.96	5.55	4.39	0.52855	.	0.078788	0.52532	D	0.000061	T	0.48187	0.1486	L	0.34521	1.04	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	T	0.50808	-0.8784	10	0.87932	D	0	-4.7705	6.1117	0.20104	0.7472:0.0:0.2528:0.0	.	1320	Q5QGS0	K2022_HUMAN	V	1320	ENSP00000362567:L1320V;ENSP00000055682:L1320V	ENSP00000055682:L1320V	L	-	1	2	KIAA2022	73877159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.035000	0.49759	1.853000	0.53794	0.441000	0.28932	TTG		TCGA-IB-7651-01A-11D-2154-08	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	1	0	1	106	326	0	103	0	0	0	1	0	103	2		0	0	0	0	0	2	1	1	104	320	0	103	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA2022	340533	broad.mit.edu	37	X	73964099	73964099	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73964099G>T	ENST00000055682.6	-	3	904	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022			109					GAGGGAGATGGCATTCACAGA	0.517000																								0							SO:0001583	missense			ENST00000055682.6	1	1	hg19	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112719	0.56398	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.40225	1.04;1.04	5.2	5.2	0.72013	.	0.115622	0.56097	D	0.000021	T	0.55816	0.1944	L	0.44542	1.39	0.45662	D	0.998584	D	0.67145	0.996	P	0.62184	0.899	T	0.59059	-0.7525	10	0.87932	D	0	-8.8622	17.8486	0.88738	0.0:0.0:1.0:0.0	.	98	Q5QGS0	K2022_HUMAN	D	98	ENSP00000362567:A98D;ENSP00000055682:A98D	ENSP00000055682:A98D	A	-	2	0	KIAA2022	73880824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.893000	0.75649	2.403000	0.81681	0.600000	0.82982	GCC		TCGA-IB-7651-01A-11D-2154-08	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	1	0	1	87	294	0	105	0	0	0	1	0	105	2		0	0	0	0	0	2	1	1	85	285	0	104	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGEE2	139599	broad.mit.edu	37	X	75004464	75004464	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75004464C>T	ENST00000373359.2	-	1	615	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2			34					TCAGGTTCAACCCAAAGACCT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000373359.2	1	1	hg19	CCDS14431.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	1	0	1	25	85	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	9.999999e-01	25	84	0	30	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
MAGEE1	57692	broad.mit.edu	37	X	75648934	75648934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1			51					CTGCCTACACCTGGTGAGGGA	0.687000																								0							SO:0001583	missense			ENST00000361470.2	1	1	hg19	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154579	0.06544	.	.	ENSG00000198934	ENST00000361470	T	0.08984	3.03	2.06	-0.765	0.11023	.	.	.	.	.	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	9	0.14656	T	0.56	.	2.9393	0.05825	0.2359:0.5127:0.0:0.2513	.	204	Q9HCI5	MAGE1_HUMAN	L	204	ENSP00000354912:P204L	ENSP00000354912:P204L	P	+	2	0	MAGEE1	75565338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.217000	0.02979	-0.317000	0.08677	-0.371000	0.07208	CCT		TCGA-IB-7651-01A-11D-2154-08	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	1	0	1	16	123	0	44	1	2.974569e-01	2	7	0	44	2		0	0	0	0	0	2	1	9.999453e-01	16	121	0	43	2								-19.999990	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.810000	1.000000	1.000000	0.987213	0.990000	1	9.900000e-01	1
MAGEE1	57692	broad.mit.edu	37	X	75650590	75650590	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75650590T>G	ENST00000361470.2	+	1	2545	c.2267T>G	c.(2266-2268)tTt>tGt	p.F756C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1			51					GTGCAGTTATTTCTGCTTATG	0.463000																								0							SO:0001583	missense			ENST00000361470.2	1	1	hg19	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	11.93	1.787028	0.31593	.	.	ENSG00000198934	ENST00000361470	T	0.04970	3.52	2.52	1.24	0.21308	.	.	.	.	.	T	0.10508	0.0257	N	0.24115	0.695	0.20196	N	0.999928	D	0.76494	0.999	D	0.79108	0.992	T	0.25117	-1.0141	9	0.87932	D	0	.	4.0955	0.09988	0.3819:0.0:0.0:0.6181	.	756	Q9HCI5	MAGE1_HUMAN	C	756	ENSP00000354912:F756C	ENSP00000354912:F756C	F	+	2	0	MAGEE1	75566994	1.000000	0.71417	0.443000	0.26883	0.996000	0.88848	1.535000	0.36061	0.218000	0.20820	0.486000	0.48141	TTT		TCGA-IB-7651-01A-11D-2154-08	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	1	0	1	81	263	0	92	1	8.111495e-01	4	8	0	92	2		0	0	0	0	0	2	1	1	81	258	0	91	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATRX	546	broad.mit.edu	37	X	76939224	76939224	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76939224G>A	ENST00000373344.5	-	9	1738	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	ATRX_ENST00000395603.3_Silent_p.N470N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	p.?(1)		145					CTTCAGAAGTGTTGGCAGGTT	0.378000			Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome								Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)						SO:0001819	synonymous_variant			ENST00000373344.5	1	1	hg19	CCDS14434.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	1	0	0	316	1112	0	407	1	9.999823e-01	29	27	0	407	2		0	0	0	0	0	2	1	1	305	1089	0	405	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAGT1	84061	broad.mit.edu	37	X	77131009	77131009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77131009C>T	ENST00000373336.3	-	2	217	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MAGT1_ENST00000358075.6_Missense_Mutation_p.R95H			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1			17					TTTCACAAGGCGACGGAACTT	0.418000																								0							SO:0001583	missense			ENST00000373336.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.10	3.547448	0.65311	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.22945	1.93;1.93	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.25121	0.0610	L	0.42245	1.32	0.80722	D	1	P;B	0.48998	0.918;0.039	B;B	0.38562	0.276;0.01	T	0.02121	-1.1210	10	0.42905	T	0.14	-4.5856	18.8512	0.92230	0.0:1.0:0.0:0.0	.	63;95	Q9H0U3;B4DH58	MAGT1_HUMAN;.	H	95;63	ENSP00000354649:R95H;ENSP00000362433:R63H	ENSP00000354649:R95H	R	-	2	0	MAGT1	77017665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.398000	0.81561	0.600000	0.82982	CGC		TCGA-IB-7651-01A-11D-2154-08	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	1	0	1	194	567	0	225	1	1	188	167	0	225	2		0	0	0	0	0	2	1	1	192	557	0	224	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP7A	538	broad.mit.edu	37	X	77244750	77244750	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77244750C>A	ENST00000341514.6	+	4	787	c.632C>A	c.(631-633)gCt>gAt	p.A211D	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide			53				Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATCAAGAAGCTACTATTGTT	0.338000																								0							SO:0001583	missense			ENST00000341514.6	1	1	hg19	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658389	0.67586	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.87809	-2.3;-2.3	4.68	4.68	0.58851	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	U	0.000000	D	0.96571	0.8881	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98962	1.0798	10	0.87932	D	0	-4.844	17.0033	0.86386	0.0:1.0:0.0:0.0	.	211;221	Q04656;Q59HD1	ATP7A_HUMAN;.	D	211;211;211;221	ENSP00000343026:A211D;ENSP00000345728:A211D	ENSP00000345728:A211D	A	+	2	0	ATP7A	77131406	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.081000	0.71309	1.933000	0.56026	0.515000	0.50301	GCT		TCGA-IB-7651-01A-11D-2154-08	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	1	0	1	47	172	0	52	1	7.165483e-01	7	4	0	52	2		0	0	0	0	0	2	1	1	46	169	0	52	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATP7A	538	broad.mit.edu	37	X	77289223	77289223	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77289223G>T	ENST00000341514.6	+	17	3570	c.3415G>T	c.(3415-3417)Gac>Tac	p.D1139Y	ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y|ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide			53				Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GAATATAGAGGACAATAATAT	0.388000																								0							SO:0001583	missense			ENST00000341514.6	1	1	hg19	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608886	0.46527	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97404	-3.97;-4.37;-3.99	5.27	5.27	0.74061	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.171981	0.50627	D	0.000101	D	0.91905	0.7437	N	0.02011	-0.69	0.33534	D	0.593974	P	0.34864	0.473	B	0.42138	0.377	D	0.94682	0.7866	10	0.62326	D	0.03	-6.7771	13.8071	0.63238	0.0:0.1492:0.8508:0.0	.	1139	Q04656	ATP7A_HUMAN	Y	1061;142;1139	ENSP00000343026:D1061Y;ENSP00000343678:D142Y;ENSP00000345728:D1139Y	ENSP00000345728:D1139Y	D	+	1	0	ATP7A	77175879	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.313000	0.78978	2.311000	0.77944	0.600000	0.82982	GAC		TCGA-IB-7651-01A-11D-2154-08	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	1	0	1	82	278	0	92	1	9.059178e-01	6	10	0	92	2		0	0	0	0	0	2	1	1	81	274	0	92	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PGK1	5230	broad.mit.edu	37	X	77369532	77369532	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369532G>T	ENST00000373316.4	+	4	459	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1			24				Lamivudine(DB00709)	GTTCTTGAAGGACTGTGTAGG	0.502000																								0							SO:0001583	missense			ENST00000373316.4	1	1	hg19	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.121848	0.77436	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.94184	-3.37;-3.37	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.99838	4.83	0.58432	D	0.999999	P	0.48834	0.916	P	0.51974	0.686	D	0.99675	1.0997	10	0.87932	D	0	-12.4287	16.5542	0.84481	0.0:0.0:1.0:0.0	.	98	P00558	PGK1_HUMAN	Y	98;70	ENSP00000362413:D98Y;ENSP00000444708:D70Y	ENSP00000362413:D98Y	D	+	1	0	PGK1	77256188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.214000	0.95140	2.197000	0.70478	0.591000	0.81541	GAC		TCGA-IB-7651-01A-11D-2154-08	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1	0	0	1	65	767	1	222	1	1	1026	2107	1	222	40		0	0	0	0	0	2	1	1	64	745	1	221	14								-14.469880	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.910000	0.710000	1.000000	1.000000	0.908608	0.910000	1	8.100000e-01	1
PGK1	5230	broad.mit.edu	37	X	77369650	77369650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369650G>A	ENST00000373316.4	+	4	577	c.410G>A	c.(409-411)gGg>gAg	p.G137E	PGK1_ENST00000537456.1_Missense_Mutation_p.G109E|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1			24				Lamivudine(DB00709)	GATGCTTCTGGGAACAAGGTA	0.483000																								0							SO:0001583	missense			ENST00000373316.4	1	1	hg19	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.659388	0.88154	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.92495	-3.05;-3.05	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	N	0.01874	-0.695	0.80722	D	1	P	0.51653	0.947	P	0.57204	0.815	D	0.92061	0.5656	10	0.72032	D	0.01	-11.2942	16.5542	0.84481	0.0:0.0:1.0:0.0	.	137	P00558	PGK1_HUMAN	E	137;109	ENSP00000362413:G137E;ENSP00000444708:G109E	ENSP00000362413:G137E	G	+	2	0	PGK1	77256306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.197000	0.70478	0.591000	0.81541	GGG		TCGA-IB-7651-01A-11D-2154-08	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1	1	0	1	164	667	0	234	1	1	1978	1085	0	234	2		0	0	0	0	0	2	1	1	156	651	0	233	2								-3.569006	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZCCHC5	203430	broad.mit.edu	37	X	77913260	77913260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77913260C>T	ENST00000321110.1	-	2	953	c.658G>A	c.(658-660)Gca>Aca	p.A220T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5			37					TCTGAAGCTGCTGATGTCTCC	0.522000																								0							SO:0001583	missense			ENST00000321110.1	1	1	hg19	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	5.120	0.207840	0.09704	.	.	ENSG00000179300	ENST00000321110	T	0.18338	2.22	3.03	1.04	0.20106	.	.	.	.	.	T	0.06508	0.0167	N	0.04508	-0.205	0.09310	N	1	B	0.20550	0.046	B	0.17979	0.02	T	0.43861	-0.9365	9	0.15066	T	0.55	.	6.2909	0.21059	0.0:0.6915:0.0:0.3085	.	220	Q8N8U3	ZCHC5_HUMAN	T	220	ENSP00000316794:A220T	ENSP00000316794:A220T	A	-	1	0	ZCCHC5	77799916	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	0.127000	0.18452	0.513000	0.50165	GCA		TCGA-IB-7651-01A-11D-2154-08	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	1	0	1	32	154	0	45	0	0	0	1	0	45	2		0	0	0	0	0	2	1	1	32	149	0	44	2								-20.000000	1	1	121400	3	33	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
LPAR4	2846	broad.mit.edu	37	X	78010530	78010530	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010530T>C	ENST00000435339.3	+	2	550	c.164T>C	c.(163-165)aTa>aCa	p.I55T		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4			38					TTGGGTCTGATAACCAACAGT	0.383000																								0							SO:0001583	missense			ENST00000435339.3	1	1	hg19	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315324	0.23908	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.38722	1.12;1.12	4.32	4.32	0.51571	.	0.128566	0.51477	D	0.000089	T	0.29783	0.0744	L	0.34521	1.04	0.44006	D	0.996714	P	0.38048	0.616	B	0.33454	0.164	T	0.11470	-1.0586	10	0.45353	T	0.12	.	11.575	0.50856	0.0:0.0:0.0:1.0	.	55	Q99677	LPAR4_HUMAN	T	55	ENSP00000408205:I55T;ENSP00000362398:I55T	ENSP00000362398:I55T	I	+	2	0	LPAR4	77897186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.592000	0.61027	1.609000	0.50190	0.345000	0.21793	ATA		TCGA-IB-7651-01A-11D-2154-08	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	0	0	0	27	1086	0	279		0	0	0	0	279	2		0	0	0	0	0	2	1	9.999999e-01	28	1062	0	276	2								-18.973430	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.280000	0.180000	0.400000	0.280000	0.294128	0.280000	0	2.300000e-01	3.500000e-01
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010800G>A	ENST00000435339.3	+	2	820	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	p.R145Q(1)		38					TATCCTTTTCGATCTCGTACT	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000435339.3	1	1	hg19	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725257	0.68959	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.40756	1.02;1.02	4.21	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.074980	0.56097	N	0.000035	T	0.42630	0.1211	L	0.41906	1.305	0.45354	D	0.998343	D	0.56746	0.977	P	0.52066	0.689	T	0.27157	-1.0082	10	0.52906	T	0.07	.	9.927	0.41498	0.1045:0.0:0.8955:0.0	.	145	Q99677	LPAR4_HUMAN	Q	145	ENSP00000408205:R145Q;ENSP00000362398:R145Q	ENSP00000362398:R145Q	R	+	2	0	LPAR4	77897456	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	5.028000	0.64115	0.790000	0.33803	0.422000	0.28245	CGA		TCGA-IB-7651-01A-11D-2154-08	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	1	0	1	104	360	0	102	0	5.114373e-02	0	2	0	102	2		0	0	0	0	0	2	1	1	101	352	0	102	2								-4.255336	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TBX22	50945	broad.mit.edu	37	X	79286360	79286360	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79286360A>G	ENST00000373294.5	+	8	1341	c.1313A>G	c.(1312-1314)aAt>aGt	p.N438S	TBX22_ENST00000373296.3_Missense_Mutation_p.N438S|TBX22_ENST00000442340.1_Missense_Mutation_p.N318S|TBX22_ENST00000373291.1_Missense_Mutation_p.N318S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22			65					CAAGCACCTAATTCTACCAAT	0.428000																								0							SO:0001583	missense			ENST00000373294.5	1	1	hg19	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.381000	0.01204	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	3.99	2.81	0.32909	.	7739.210000	0.00166	N	0.000000	T	0.61578	0.2358	L	0.31664	0.95	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.49844	-0.8896	10	0.02654	T	1	.	0.9104	0.01293	0.4871:0.2026:0.1112:0.199	.	438	Q9Y458	TBX22_HUMAN	S	438;318;438;318	ENSP00000362393:N438S;ENSP00000396394:N318S;ENSP00000362390:N438S;ENSP00000362388:N318S	ENSP00000362388:N318S	N	+	2	0	TBX22	79173016	0.983000	0.35010	0.107000	0.21349	0.001000	0.01503	1.172000	0.31908	0.431000	0.26258	-0.804000	0.03201	AAT		TCGA-IB-7651-01A-11D-2154-08	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	0	0	1	166	509	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1	163	500	0	121	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM46D	169966	broad.mit.edu	37	X	79699097	79699097	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79699097G>A	ENST00000308293.5	+	3	1298	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	FAM46D_ENST00000538312.1_Silent_p.P353P	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D			23					AGCCTGCTCCGTACTTTGCAG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000308293.5	1	1	hg19	CCDS14446.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	1	0	1	59	206	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1	57	200	0	53	2								-20.000000	1	1	121382	5	35	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRWD3	254065	broad.mit.edu	37	X	79932615	79932615	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932615A>C	ENST00000373275.4	-	41	5118	c.4902T>G	c.(4900-4902)gaT>gaG	p.D1634E	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3			87					CATCTACGTAATCTTGATCTG	0.393000																								0							SO:0001583	missense			ENST00000373275.4	1	1	hg19	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351176	0.41700	.	.	ENSG00000165288	ENST00000373275	T	0.74209	-0.82	4.43	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.30011	N	0.815203	D	0.61697	0.99	P	0.48488	0.579	T	0.55256	-0.8169	9	.	.	.	-12.3016	7.5138	0.27590	0.8194:0.0:0.1806:0.0	.	1634	Q6RI45	BRWD3_HUMAN	E	1634	ENSP00000362372:D1634E	.	D	-	3	2	BRWD3	79819271	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.931000	0.63469	0.575000	0.29434	-0.448000	0.05591	GAT		TCGA-IB-7651-01A-11D-2154-08	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1	246	802	0	230	1	9.977366e-01	20	12	0	230	2		0	0	0	0	0	2	1	1	235	775	0	225	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRWD3	254065	broad.mit.edu	37	X	79932771	79932771	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932771A>C	ENST00000373275.4	-	41	4962	c.4746T>G	c.(4744-4746)gaT>gaG	p.D1582E	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3			87					ccatgttttcatcttcttctG	0.403000																								0							SO:0001583	missense			ENST00000373275.4	1	1	hg19	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	4.040	0.005016	0.07866	.	.	ENSG00000165288	ENST00000373275	T	0.52057	0.68	4.28	1.79	0.24919	.	0.533748	0.18881	N	0.128578	T	0.27454	0.0674	N	0.22421	0.69	0.26157	N	0.980056	B	0.11235	0.004	B	0.10450	0.005	T	0.16041	-1.0416	9	.	.	.	-7.9796	5.2779	0.15659	0.7522:0.0:0.0889:0.1589	.	1582	Q6RI45	BRWD3_HUMAN	E	1582	ENSP00000362372:D1582E	.	D	-	3	2	BRWD3	79819427	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.614000	0.24314	0.074000	0.16767	0.412000	0.27726	GAT		TCGA-IB-7651-01A-11D-2154-08	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1	68	194	0	58	1	9.915490e-01	11	13	0	58	2		0	0	0	0	0	2	1	1	68	190	0	58	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRWD3	254065	broad.mit.edu	37	X	79945476	79945476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79945476G>A	ENST00000373275.4	-	32	3934	c.3718C>T	c.(3718-3720)Cga>Tga	p.R1240*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	p.R1240*(1)		87					CCAATAAATCGAAGTAAGACA	0.299000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000373275.4	0	1	hg19	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	44	11.213710	0.99531	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.44	3.55	0.40652	.	0.112392	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.701	13.0163	0.58759	0.0:0.0:0.8376:0.1624	.	.	.	.	X	1240	.	.	R	-	1	2	BRWD3	79832132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.343000	0.79319	0.932000	0.37266	0.594000	0.82650	CGA		TCGA-IB-7651-01A-11D-2154-08	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1	36	135	0	44	1	8.235813e-01	5	9	0	44	2		0	0	0	0	0	2	1	1	36	132	0	44	2								-3.789039	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
BRWD3	254065	broad.mit.edu	37	X	79979292	79979292	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79979292T>C	ENST00000373275.4	-	16	1821	c.1605A>G	c.(1603-1605)ggA>ggG	p.G535G	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3			87					GCAGCAAATGTCCATGAGAAT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000373275.4	1	1	hg19	CCDS14447.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1	61	190	0	61	1	7.864490e-01	3	8	0	61	2		0	0	0	0	0	2	1	1	60	188	0	61	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYLC1	1538	broad.mit.edu	37	X	83128385	83128385	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128385T>G	ENST00000329312.4	+	4	706	c.669T>G	c.(667-669)gaT>gaG	p.D223E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1			58					CAAAGAAAGATTTGAAGAGGT	0.328000																								0							SO:0001583	missense			ENST00000329312.4	1	1	hg19	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	9.934	1.215624	0.22373	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.52754	0.65	3.21	-0.44	0.12261	.	.	.	.	.	T	0.47746	0.1462	L	0.43152	1.355	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.42413	-0.9453	9	0.06891	T	0.86	-0.0289	5.5428	0.17047	0.0:0.4965:0.0:0.5035	.	223;223	P35663;F5H4V5	CYLC1_HUMAN;.	E	223	ENSP00000331556:D223E	ENSP00000331556:D223E	D	+	3	2	CYLC1	83015041	0.067000	0.21026	0.003000	0.11579	0.010000	0.07245	-0.100000	0.10990	-0.034000	0.13713	0.417000	0.27973	GAT		TCGA-IB-7651-01A-11D-2154-08	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	1	0	1	33	110	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	33	108	0	42	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYLC1	1538	broad.mit.edu	37	X	83128818	83128818	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128818G>A	ENST00000329312.4	+	4	1139	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1			58					gaaGTACCCAGAGTCTACTGA	0.343000																								0							SO:0001583	missense			ENST00000329312.4	0	1	hg19	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	6.577	0.474736	0.12521	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.25749	1.78	4.18	2.32	0.28847	.	.	.	.	.	T	0.14356	0.0347	L	0.43923	1.385	0.09310	N	1	P;P	0.46512	0.879;0.764	B;B	0.37144	0.242;0.173	T	0.10200	-1.0640	9	0.07990	T	0.79	.	4.2204	0.10554	0.1255:0.0:0.6479:0.2266	.	368;368	P35663;F5H4V5	CYLC1_HUMAN;.	K	368	ENSP00000331556:E368K	ENSP00000331556:E368K	E	+	1	0	CYLC1	83015474	0.267000	0.24122	0.001000	0.08648	0.566000	0.35808	3.563000	0.53784	0.325000	0.23359	0.556000	0.70494	GAG		TCGA-IB-7651-01A-11D-2154-08	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	0	0	0	6	115	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	9.634566e-01	6	112	0	23	2								-9.883958	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.600000	0.250000	1.000000	1.000000	0.631592	0.600000	0	4.000000e-01	8.600000e-01
CYLC1	1538	broad.mit.edu	37	X	83129557	83129557	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83129557C>A	ENST00000329312.4	+	4	1878	c.1841C>A	c.(1840-1842)cCt>cAt	p.P614H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1			58					GCTTGTGAGCCTTCTCTACCA	0.433000																								0							SO:0001583	missense			ENST00000329312.4	1	1	hg19	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	2.564	-0.301113	0.05495	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.68479	-0.33	3.48	1.69	0.24217	.	.	.	.	.	T	0.66117	0.2757	L	0.34521	1.04	0.09310	N	1	D;D	0.63880	0.991;0.993	D;P	0.64321	0.924;0.895	T	0.53570	-0.8420	9	0.72032	D	0.01	0.7557	3.5984	0.08014	0.2457:0.6184:0.0:0.1359	.	614;614	P35663;F5H4V5	CYLC1_HUMAN;.	H	614	ENSP00000331556:P614H	ENSP00000331556:P614H	P	+	2	0	CYLC1	83016213	0.253000	0.23982	0.178000	0.23040	0.048000	0.14542	1.052000	0.30429	0.320000	0.23234	-0.276000	0.10085	CCT		TCGA-IB-7651-01A-11D-2154-08	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	1	0	0	14	211	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	9.997759e-01	14	210	0	60	2								-17.500070	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.730000	0.420000	1.000000	1.000000	0.748350	0.730000	0	5.600000e-01	9.400000e-01
HDX	139324	broad.mit.edu	37	X	83724000	83724000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724000C>T	ENST00000297977.5	-	3	842	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	HDX_ENST00000373177.2_Missense_Mutation_p.C244Y|HDX_ENST00000506585.2_Missense_Mutation_p.C186Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox			48					CTTTTGCCCACATAAGTTATG	0.428000													Pancreas(53;231 1169 36156 43751 51139)											0							SO:0001583	missense			ENST00000297977.5	1	1	hg19	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449416	0.01080	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.46819	1.49;1.47;1.49;0.86	4.92	0.521	0.17046	.	0.497395	0.22711	N	0.056571	T	0.32436	0.0829	L	0.36672	1.1	0.21105	N	0.999789	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.52906	T	0.07	-4.1839	6.6564	0.22990	0.0:0.5189:0.1906:0.2904	.	244	Q7Z353	HDX_HUMAN	Y	244;186;244;186	ENSP00000297977:C244Y;ENSP00000362272:C186Y;ENSP00000423670:C244Y;ENSP00000387790:C186Y	ENSP00000297977:C244Y	C	-	2	0	HDX	83610656	0.967000	0.33354	0.938000	0.37757	0.539000	0.34962	0.444000	0.21661	0.133000	0.18654	-0.273000	0.10243	TGT		TCGA-IB-7651-01A-11D-2154-08	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	1	0	1	146	463	0	147	0	5.293979e-01	0	7	0	147	2		0	0	0	0	0	2	1	1	144	455	0	147	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HDX	139324	broad.mit.edu	37	X	83724135	83724135	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724135T>G	ENST00000297977.5	-	3	707	c.596A>C	c.(595-597)aAc>aCc	p.N199T	HDX_ENST00000373177.2_Missense_Mutation_p.N199T|HDX_ENST00000506585.2_Missense_Mutation_p.N141T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox			48					TACTGAAGAGTTTCCATAGTT	0.388000													Pancreas(53;231 1169 36156 43751 51139)											0							SO:0001583	missense			ENST00000297977.5	1	1	hg19	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.330907	0.01298	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.41400	1.55;1.6;1.55;1.0	4.9	2.82	0.32997	.	0.459886	0.24970	N	0.034148	T	0.17831	0.0428	N	0.14661	0.345	0.20873	N	0.999837	B	0.17038	0.02	B	0.14023	0.01	T	0.30563	-0.9974	10	0.05351	T	0.99	-25.6574	4.4455	0.11595	0.1664:0.6086:0.0:0.225	.	199	Q7Z353	HDX_HUMAN	T	199;141;199;141	ENSP00000297977:N199T;ENSP00000362272:N141T;ENSP00000423670:N199T;ENSP00000387790:N141T	ENSP00000297977:N199T	N	-	2	0	HDX	83610791	0.997000	0.39634	0.977000	0.42913	0.983000	0.72400	0.835000	0.27531	0.380000	0.24823	-0.502000	0.04539	AAC		TCGA-IB-7651-01A-11D-2154-08	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	0	0	0	32	609	0	120	0	0	0	1	0	120	2		0	0	0	0	0	2	1	1	31	591	0	119	2								-5.706053	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.580000	0.410000	0.800000	0.580000	0.599175	0.580000	0	4.900000e-01	7.000000e-01
VCX3B	425054	broad.mit.edu	37	X	8433520	8433520	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8433520C>A	ENST00000381032.1	+	2	336	c.29C>A	c.(28-30)cCt>cAt	p.P10H	VCX3B_ENST00000444481.1_Missense_Mutation_p.P10H|VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_Missense_Mutation_p.P10H|VCX3B_ENST00000453306.1_Missense_Mutation_p.P10H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B			11					GCCTCGGGACCTCCGGCCAAG	0.607000																								0							SO:0001583	missense			ENST00000381032.1	0	1	hg19	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	C	4.447	0.082777	0.08533	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	0.421	-0.563	0.11778	.	.	.	.	.	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	D;D	0.53462	0.96;0.96	B;B	0.41299	0.353;0.353	T	0.14392	-1.0474	8	0.72032	D	0.01	.	.	.	.	.	10;10	Q9H321;E7ERZ8	VCX3B_HUMAN;.	H	10	ENSP00000370420:P10H;ENSP00000411785:P10H;ENSP00000414780:P10H;ENSP00000410372:P10H;ENSP00000370417:P10H	ENSP00000370417:P10H	P	+	2	0	VCX3B	8393520	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.021000	0.30040	-0.438000	0.07232	-0.435000	0.05868	CCT		TCGA-IB-7651-01A-11D-2154-08	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1	0	0	0	23	982	0	220		0	0	0	0	220	2		0	0	0	0	0	2	1	9.946592e-01	12	337	0	258	2								-3.270105	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.260000	0.170000	0.390000	0.270000	0.279015	0.260000	0	2.100000e-01	3.300000e-01
VCX3B	425054	broad.mit.edu	37	X	8434386	8434386	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8434386A>G	ENST00000381032.1	+	3	1010	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G|VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B			11					AGAACCACTGAGTCAGGAGAG	0.567000																								0							SO:0001583	missense			ENST00000381032.1	1	1	hg19	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	7.916	0.737629	0.15574	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.18502	2.21;2.21;2.21	0.601	-0.859	0.10685	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.35251	-0.9796	9	0.34782	T	0.22	.	3.9426	0.09334	0.7175:0.0:0.2825:0.0	.	205	Q9H321	VCX3B_HUMAN	G	235;205;203	ENSP00000370420:S235G;ENSP00000414780:S205G;ENSP00000370417:S203G	ENSP00000370417:S203G	S	+	1	0	VCX3B	8394386	0.005000	0.15991	0.006000	0.13384	0.028000	0.11728	0.093000	0.15086	-0.284000	0.09102	0.354000	0.21935	AGT		TCGA-IB-7651-01A-11D-2154-08	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1	1	0	0	265	963	0	308	0	0	0	1	0	308	2		0	0	0	0	0	2		0	0	0	0	0	2								-20.000000	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SATL1	340562	broad.mit.edu	37	X	84363222	84363222	+	Silent	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:84363222T>C	ENST00000395409.3	-	1	752	c.192A>G	c.(190-192)tcA>tcG	p.S64S	SATL1_ENST00000332921.5_Silent_p.S64S|SATL1_ENST00000509231.1_Silent_p.S251S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1			29					CTGATAAACTTGATTGGTTTG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000395409.3	1	1	hg19																																																																																					TCGA-IB-7651-01A-11D-2154-08	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	173	617	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1	172	598	0	177	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DACH2	117154	broad.mit.edu	37	X	85950138	85950138	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85950138C>T	ENST00000373125.4	+	5	887	c.887C>T	c.(886-888)gCt>gTt	p.A296V	DACH2_ENST00000373131.1_Missense_Mutation_p.A283V|DACH2_ENST00000508860.1_Missense_Mutation_p.A129V|DACH2_ENST00000510272.1_Missense_Mutation_p.A77V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2			71					ATTGGGGGTGCTCCAACCCTC	0.498000																								0							SO:0001583	missense			ENST00000373125.4	1	1	hg19	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	c	9.268	1.045024	0.19748	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83250	-1.7;-1.7	4.99	4.12	0.48240	.	0.399373	0.23832	N	0.044125	T	0.68220	0.2977	N	0.19112	0.55	0.25362	N	0.98878	B;P;P	0.43094	0.323;0.799;0.514	B;B;B	0.36567	0.079;0.228;0.077	T	0.57254	-0.7843	10	0.17832	T	0.49	.	12.8008	0.57584	0.0:0.918:0.0:0.082	.	162;283;296	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	296;283;296;129;77;129	ENSP00000362223:A283V;ENSP00000362217:A296V	ENSP00000345134:A296V	A	+	2	0	DACH2	85836794	0.999000	0.42202	0.021000	0.16686	0.004000	0.04260	3.625000	0.54238	0.885000	0.36088	0.509000	0.49947	GCT		TCGA-IB-7651-01A-11D-2154-08	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	1	0	1	19	99	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	9.999927e-01	19	95	0	16	2								-20.000000	1	1	120996	1	25	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999556	0.990000	1	9.900000e-01	1
DACH2	117154	broad.mit.edu	37	X	85969592	85969592	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85969592C>A	ENST00000373125.4	+	6	973	c.973C>A	c.(973-975)Cca>Aca	p.P325T	DACH2_ENST00000373131.1_Missense_Mutation_p.P312T|DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|DACH2_ENST00000510272.1_Missense_Mutation_p.P106T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2			71					TCCCCTACTTCCAGTCAGCTT	0.413000																								0							SO:0001583	missense			ENST00000373125.4	1	1	hg19	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212561	0.79240	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.85171	-1.94;-1.95	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	D	0.91314	0.7261	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.981;0.982;0.999;0.999	D	0.92218	0.5782	10	0.66056	D	0.02	.	17.5775	0.87955	0.0:1.0:0.0:0.0	.	191;325;312;325	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	T	325;312;325;158;106;158	ENSP00000362223:P312T;ENSP00000362217:P325T	ENSP00000345134:P325T	P	+	1	0	DACH2	85856248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.079000	0.62486	0.513000	0.50165	CCA		TCGA-IB-7651-01A-11D-2154-08	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	1	0	1	169	554	0	164	0	0	0	1	0	164	2		0	0	0	0	0	2	1	1	164	541	0	163	2								-5.065090	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CPXCR1	53336	broad.mit.edu	37	X	88008738	88008738	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:88008738A>C	ENST00000276127.4	+	3	582	c.323A>C	c.(322-324)gAt>gCt	p.D108A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1			40					CCCTTAAATGATAGATCAAGA	0.403000																								0							SO:0001583	missense			ENST00000276127.4	1	1	hg19	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109664	0.37242	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.38240	1.15;1.15	2.97	2.97	0.34412	.	0.445051	0.16599	N	0.207428	T	0.23532	0.0569	N	0.24115	0.695	0.09310	N	1	P	0.46784	0.884	B	0.43103	0.408	T	0.04664	-1.0935	9	.	.	.	-5.2427	6.8618	0.24072	1.0:0.0:0.0:0.0	.	108	Q8N123	CPXCR_HUMAN	A	108	ENSP00000276127:D108A;ENSP00000362203:D108A	.	D	+	2	0	CPXCR1	87895394	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	2.016000	0.40971	1.423000	0.47198	0.481000	0.45027	GAT		TCGA-IB-7651-01A-11D-2154-08	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	1	0	1	35	111	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1	34	110	0	33	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TGIF2LX	90316	broad.mit.edu	37	X	89177650	89177650	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:89177650C>T	ENST00000561129.2	+	1	696	c.566C>T	c.(565-567)cCg>cTg	p.P189L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked			40					ATAGCCCAGCCGAAGAAAAAG	0.572000																								0							SO:0001583	missense			ENST00000561129.2	1	1	hg19	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	4.791	0.147126	0.09134	.	.	ENSG00000153779	ENST00000283891	T	0.61392	0.11	2.95	0.0758	0.14400	.	.	.	.	.	T	0.46054	0.1373	M	0.76574	2.34	0.09310	N	1	B	0.33238	0.403	B	0.18871	0.023	T	0.36792	-0.9733	8	.	.	.	-5.0317	2.3044	0.04170	0.244:0.457:0.0:0.2989	.	189	Q8IUE1	TF2LX_HUMAN	L	189	ENSP00000355119:P189L	.	P	+	2	0	TGIF2LX	89064306	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.009000	0.12765	-0.101000	0.12219	0.506000	0.49869	CCG		TCGA-IB-7651-01A-11D-2154-08	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	1	0	1	56	211	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1	55	207	0	77	2								-3.807514	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FAM9B	171483	broad.mit.edu	37	X	9000434	9000434	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9000434T>C	ENST00000327220.5	-	3	461	c.97A>G	c.(97-99)Act>Gct	p.T33A	FAM9B_ENST00000362066.3_Missense_Mutation_p.T78A|FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B			11		Hepatocellular(5;0.219)			TGCTCATCAGTTACATCTTCC	0.403000																								0							SO:0001583	missense			ENST00000327220.5	1	1	hg19	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647061	0.29246	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	T	0.31295	0.0792	L	0.32530	0.975	0.09310	N	1	P;P	0.46578	0.88;0.88	P;P	0.50270	0.636;0.636	T	0.20472	-1.0274	7	0.20519	T	0.43	.	.	.	.	.	33;78	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	A	78;33;33	.	ENSP00000318716:T33A	T	-	1	0	FAM9B	8960434	0.110000	0.22057	0.246000	0.24233	0.246000	0.25737	1.087000	0.30865	0.238000	0.21222	0.235000	0.17854	ACT		TCGA-IB-7651-01A-11D-2154-08	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	1	0	1	214	755	0	247		0	0	0	0	247	2		0	0	0	0	0	2	1	1	209	736	0	245	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PABPC5	140886	broad.mit.edu	37	X	90691094	90691094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:90691094G>A	ENST00000312600.3	+	2	732	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5			42					CTCAACAACCGCCAGGTGTAT	0.498000																								0							SO:0001583	missense			ENST00000312600.3	1	1	hg19	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059164	0.55325	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.94;2.1	4.29	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.67569	2.06	0.58432	D	0.999999	D	0.69078	0.997	P	0.50934	0.654	T	0.15235	-1.0444	10	0.66056	D	0.02	.	13.6186	0.62123	0.0:0.0:1.0:0.0	.	173	Q96DU9	PABP5_HUMAN	H	9;173;141	ENSP00000362197:R9H;ENSP00000308012:R173H	ENSP00000308012:R173H	R	+	2	0	PABPC5	90577750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.382000	0.81193	0.600000	0.82982	CGC		TCGA-IB-7651-01A-11D-2154-08	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	1	0	1	74	206	0	66	0	4.999992e-01	0	6	0	66	2		0	0	0	0	0	2	1	1	74	203	0	66	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH11X	27328	broad.mit.edu	37	X	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked			159					GCCACTGATTCGAATTGAAGA	0.443000													NSCLC(38;925 1092 2571 38200 45895)											0							SO:0001587	stop_gained			ENST00000373094.1	0	1	hg19	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.06	2.01	0.26516	.	0.078447	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6815	0.51461	0.3941:0.6059:0.0:0.0	.	.	.	.	X	76	.	ENSP00000298274:R76X	R	+	1	2	PCDH11X	90977385	0.654000	0.27367	0.960000	0.40013	0.236000	0.25371	0.527000	0.22987	0.784000	0.33661	0.506000	0.49869	CGA		TCGA-IB-7651-01A-11D-2154-08	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	0	1	167	468	0	171		0	0	0	0	171	2		0	0	0	0	0	2	1	1	162	452	1	174	14								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH11X	27328	broad.mit.edu	37	X	91133466	91133466	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91133466G>A	ENST00000373094.1	+	2	3072	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked			159					TGATGTTACAGACCTTGGTTT	0.413000													NSCLC(38;925 1092 2571 38200 45895)											0							SO:0001583	missense			ENST00000373094.1	0	1	hg19	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654637	0.29425	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.62723	1.935	0.43942	D	0.9966	D;P;D;D;D;D;D;D	0.89917	1.0;0.918;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.97110	0.999;0.882;0.999;0.999;0.999;1.0;0.999;0.999	T	0.69109	-0.5232	10	0.56958	D	0.05	.	16.3137	0.82906	0.0:0.0:1.0:0.0	.	743;743;743;743;743;743;743;743	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	743	ENSP00000378746:D743N;ENSP00000362186:D743N;ENSP00000362189:D743N;ENSP00000355040:D743N;ENSP00000362180:D743N;ENSP00000423762:D743N;ENSP00000355105:D743N;ENSP00000384758:D743N;ENSP00000298274:D743N	ENSP00000298274:D743N	D	+	1	0	PCDH11X	91020122	1.000000	0.71417	0.772000	0.31596	0.274000	0.26718	7.527000	0.81931	2.049000	0.60858	0.538000	0.68166	GAC		TCGA-IB-7651-01A-11D-2154-08	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	0	0	17	440	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	9.995672e-01	14	316	0	258	2								-16.728930	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.440000	0.260000	0.660000	0.440000	0.456431	0.440000	0	3.400000e-01	5.600000e-01
PCDH11X	27328	broad.mit.edu	37	X	91873534	91873534	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91873534G>A	ENST00000373094.1	+	7	4484	c.3639G>A	c.(3637-3639)ccG>ccA	p.P1213P	PCDH11X_ENST00000298274.8_Silent_p.P1176P|PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000406881.1_Silent_p.P1205P|PCDH11X_ENST00000373097.1_Silent_p.P1203P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked			159					GCCCACCACCGATACAGGTGT	0.597000													NSCLC(38;925 1092 2571 38200 45895)											0							SO:0001819	synonymous_variant			ENST00000373094.1	1	1	hg19	CCDS14461.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	1	0	1	150	492	0	189		0	0	0	0	189	2		0	0	0	0	0	2	1	1	130	426	0	191	2								-5.094751	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DIAPH2	1730	broad.mit.edu	37	X	96327938	96327938	+	Splice_Site	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:96327938A>G	ENST00000324765.8	+	18	2397		c.e18-1		DIAPH2_ENST00000355827.4_Splice_Site|DIAPH2_ENST00000373061.3_Splice_Site|DIAPH2_ENST00000373054.4_Splice_Site|DIAPH2_ENST00000373049.4_Splice_Site			O60879	DIAP2_HUMAN	diaphanous-related formin 2			51					TTTTTCTTTCAGTTCAAAAGA	0.338000																								0							SO:0001630	splice_region_variant			ENST00000324765.8	1	0	hg19	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590818	0.46214	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7294	0.51728	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIAPH2	96214594	1.000000	0.71417	0.998000	0.56505	0.518000	0.34316	6.571000	0.74000	1.753000	0.51906	0.478000	0.44815	.		TCGA-IB-7651-01A-11D-2154-08	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	1	0	0	18	92	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	9.999888e-01	18	91	0	31	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999503	0.990000	1	9.900000e-01	1
DIAPH2	1730	broad.mit.edu	37	X	96603171	96603171	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:96603171C>T	ENST00000324765.8	+	24	3248	c.2901C>T	c.(2899-2901)aaC>aaT	p.N967N	DIAPH2_ENST00000355827.4_Silent_p.N967N|DIAPH2_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N|DIAPH2_ENST00000373049.4_Silent_p.N967N			O60879	DIAP2_HUMAN	diaphanous-related formin 2			51					TGCACAACAACATGATGAAGC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000324765.8	0	1	hg19	CCDS14467.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	0	0	0	6	275	0	69	0	1.998532e-01	0	33	0	69	2		0	0	0	0	0	2	1	9.617646e-01	6	266	0	69	2								-7.173076	1	0	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.260000	0.100000	0.510000	0.240000	0.285947	0.260000	0	1.700000e-01	3.900000e-01
GPR143	4935	broad.mit.edu	37	X	9728834	9728834	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9728834A>G	ENST00000467482.1	-	2	429	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L	GPR143_ENST00000380929.2_Missense_Mutation_p.F115L			P51810	GP143_HUMAN	G protein-coupled receptor 143			15		Hepatocellular(5;0.000888)			AAATTTGGGAATCCTAACCAC	0.473000																								0							SO:0001583	missense			ENST00000467482.1	1	1	hg19	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.535|4.535	0.099280|0.099280	0.08681|0.08681	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99207|.	-5.56;-5.56;-5.56|.	4.47|4.47	3.28|3.28	0.37604|0.37604	.|.	0.318281|.	0.34484|.	N|.	0.003924|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.47716|0.47716	1.5|1.5	0.20307|0.20307	N|N	0.999918|0.999918	B|.	0.13145|.	0.007|.	B|.	0.16289|.	0.015|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.08599|.	T|.	0.76|.	-5.3468|-5.3468	8.229|8.229	0.31587|0.31587	0.8989:0.0:0.1011:0.0|0.8989:0.0:0.1011:0.0	.|.	95|.	P51810|.	GP143_HUMAN|.	L|T	95;115;11|30	ENSP00000417161:F95L;ENSP00000370316:F115L;ENSP00000406138:F11L|.	ENSP00000370316:F115L|.	F|I	-|-	1|2	0|0	GPR143|GPR143	9688834|9688834	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.019000|0.019000	0.09904|0.09904	3.591000|3.591000	0.53986|0.53986	0.427000|0.427000	0.26145|0.26145	0.380000|0.380000	0.24917|0.24917	TTC|ATT		TCGA-IB-7651-01A-11D-2154-08	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	1	0	1	8	34	0	16	0	4.545455e-02	1	1	0	16	2		0	0	0	0	0	2	1	9.899380e-01	8	32	0	15	2								-17.011770	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.930000	1.000000	1.000000	0.995065	0.990000	1	9.900000e-01	1
SHROOM2	357	broad.mit.edu	37	X	9863881	9863881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9863881C>T	ENST00000380913.3	+	4	2023	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2			57		Hepatocellular(5;0.000888)			GCAGAAGAGCCGGAGCACAGT	0.667000																								0							SO:0001583	missense			ENST00000380913.3	1	1	hg19	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797175	0.31777	0.0	1.49E-4	ENSG00000146950	ENST00000380913	T	0.49139	0.79	5.04	-0.677	0.11357	Apx/shroom, ASD1 (1);	0.744958	0.12658	N	0.449893	T	0.61211	0.2329	L	0.59436	1.845	0.34755	D	0.732147	D	0.76494	0.999	D	0.65987	0.94	T	0.70916	-0.4742	10	0.87932	D	0	-8.1434	14.1036	0.65072	0.4572:0.5428:0.0:0.0	.	645	Q13796	SHRM2_HUMAN	W	645	ENSP00000370299:R645W	ENSP00000370299:R645W	R	+	1	2	SHROOM2	9823881	0.846000	0.29590	0.060000	0.19600	0.043000	0.13939	1.833000	0.39161	-0.131000	0.11578	-0.315000	0.08773	CGG		TCGA-IB-7651-01A-11D-2154-08	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	1	0	1	26	104	0	27	0	1.105477e-01	0	3	0	27	2		0	0	0	0	0	2	1	1	26	102	0	27	2								-20.000000	1	1	120934	3	27	1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1
SHROOM2	357	broad.mit.edu	37	X	9905433	9905433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9905433C>T	ENST00000380913.3	+	7	3937	c.3847C>T	c.(3847-3849)Ccc>Tcc	p.P1283S	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2			57		Hepatocellular(5;0.000888)			TGAGCCCCAGCCCCTGGGCAC	0.642000																								0							SO:0001583	missense			ENST00000380913.3	1	1	hg19	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	3.144	-0.175695	0.06421	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.43688	2.51;1.53;0.94	4.98	2.05	0.26809	.	1.337090	0.04799	N	0.433171	T	0.49830	0.1580	L	0.40543	1.245	0.09310	N	1	B;D	0.76494	0.004;0.999	B;D	0.63381	0.007;0.914	T	0.34329	-0.9833	10	0.22109	T	0.4	-4.5046	6.3194	0.21208	0.0:0.5636:0.2776:0.1588	.	118;1283	Q68DU3;Q13796	.;SHRM2_HUMAN	S	1283;118;118;118	ENSP00000370299:P1283S;ENSP00000415229:P118S;ENSP00000406724:P118S	ENSP00000370299:P1283S	P	+	1	0	SHROOM2	9865433	0.021000	0.18746	0.026000	0.17262	0.052000	0.14988	0.471000	0.22100	0.343000	0.23821	0.594000	0.82650	CCC		TCGA-IB-7651-01A-11D-2154-08	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	0	0	1	37	102	0	22	0	6.725883e-01	1	7	0	22	2		0	0	0	0	0	2	1	1	37	100	0	21	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH19	57526	broad.mit.edu	37	X	99657821	99657821	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99657821T>G	ENST00000373034.4	-	3	3992	c.2317A>C	c.(2317-2319)Aag>Cag	p.K773Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19			68					CTTGATTTCTTTTGATGCCCA	0.423000																								0							SO:0001583	missense			ENST00000373034.4	1	1	hg19	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	t	14.05	2.419309	0.42918	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53206	0.65;0.63;0.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.966;0.925	T	0.50338	-0.8840	10	0.12103	T	0.63	.	15.3292	0.74193	0.0:0.0:0.0:1.0	.	773;726;726	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	726;773;726	ENSP00000400327:K726Q;ENSP00000362125:K773Q;ENSP00000255531:K726Q	ENSP00000255531:K726Q	K	-	1	0	PCDH19	99544477	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.721000	0.68477	2.004000	0.58718	0.478000	0.44815	AAG		TCGA-IB-7651-01A-11D-2154-08	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	1	47	188	0	40	0	0	0	1	0	40	2		0	0	0	0	0	2	1	1	45	188	0	40	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH19	57526	broad.mit.edu	37	X	99661460	99661460	+	Silent	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661460G>A	ENST00000373034.4	-	1	3811	c.2136C>T	c.(2134-2136)acC>acT	p.T712T	PCDH19_ENST00000420881.2_Silent_p.T712T|PCDH19_ENST00000255531.7_Silent_p.T712T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19			68					TGCAGTTGTAGGTCCGGATCT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000373034.4	0	1	hg19	CCDS55462.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	1	7	60	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.805321e-01	7	58	0	11	2								-13.049100	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.560000	1.000000	1.000000	0.942405	0.990000	1	8.400000e-01	1
PCDH19	57526	broad.mit.edu	37	X	99661672	99661672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661672C>T	ENST00000373034.4	-	1	3599	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M|PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19			68					TGAGCCACCACGATAAGCTCA	0.567000																								0							SO:0001583	missense			ENST00000373034.4	1	1	hg19	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631431	0.67015	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.70164	-0.46;-0.46;-0.46	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	D	0.91786	0.5439	10	0.87932	D	0	.	19.0738	0.93151	0.0:1.0:0.0:0.0	.	642;642;642	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	642	ENSP00000400327:V642M;ENSP00000362125:V642M;ENSP00000255531:V642M	ENSP00000255531:V642M	V	-	1	0	PCDH19	99548328	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	2.454000	0.82982	0.513000	0.50165	GTG		TCGA-IB-7651-01A-11D-2154-08	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	1	64	155	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1	62	152	0	54	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PCDH19	57526	broad.mit.edu	37	X	99662630	99662630	+	Silent	SNP	C	C	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99662630C>T	ENST00000373034.4	-	1	2641	c.966G>A	c.(964-966)ggG>ggA	p.G322G	PCDH19_ENST00000420881.2_Silent_p.G322G|PCDH19_ENST00000255531.7_Silent_p.G322G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19			68					TGGAATTGGGCCCCAAGTCCT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000373034.4	1	1	hg19	CCDS55462.1																																																																																				TCGA-IB-7651-01A-11D-2154-08	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	1	67	266	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1	64	261	0	75	2								-20.000000	1	1	0	0		1	0	1	1			0.170000	2.060000	1.700000e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZDHHC7	55625	broad.mit.edu	37	16	85024017	85024017	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85024017G>T	ENST00000313732.4	-	3	560	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7			10					GAAGGCAGCAGCATGACGAAA	0.557000																								0							SO:0001583	missense			ENST00000313732.4			hg19	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341290	0.60963	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.41758	0.99;1.22	5.07	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.69358	2.11	0.80722	D	1	D;D	0.61080	0.964;0.989	D;D	0.63488	0.915;0.912	T	0.57365	-0.7824	10	0.62326	D	0.03	-12.2093	9.1614	0.37025	0.2827:0.0:0.7173:0.0	.	70;70	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	M	70	ENSP00000315604:L70M;ENSP00000341681:L70M	ENSP00000315604:L70M	L	-	1	2	ZDHHC7	83581518	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.348000	0.44045	1.119000	0.41883	0.313000	0.20887	CTG		TCGA-IB-7651-01A-11D-2154-08	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1		0		31	164	0	45	1	1	103	272	0	45	2		0	0	0	0	0	2	1	1	31	164	0	45	2								-20.000000	1	1	0	0		1	1	2	3	2.195832	1	0.170000	2.060000	2.350230e-01	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
PPM1K	152926	broad.mit.edu	37	4	89199713	89199713	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89199713G>T	ENST00000608933.1	-	2	412	c.23C>A	c.(22-24)aCt>aAt	p.T8N	PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000295908.7_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000514204.1_Missense_Mutation_p.T8N	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K			13		Hepatocellular(203;0.114)			TCTGACCAAAGTAATTAAGGC	0.507000																								0							SO:0001583	missense			ENST00000608933.1			hg19	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416855	0.25552	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.45668	1.95;0.89;0.89	3.78	3.78	0.43462	.	0.574252	0.18711	N	0.133296	T	0.26702	0.0653	N	0.19112	0.55	0.28371	N	0.92	B;B;B	0.14012	0.009;0.004;0.0	B;B;B	0.15484	0.013;0.004;0.001	T	0.07770	-1.0755	10	0.25751	T	0.34	-19.8191	11.2292	0.48901	0.0:0.0:0.8164:0.1836	.	8;8;8	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	N	8	ENSP00000295908:T8N;ENSP00000424155:T8N;ENSP00000324761:T8N	ENSP00000295908:T8N	T	-	2	0	PPM1K	89418737	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.660000	0.25009	2.420000	0.82092	0.491000	0.48974	ACT		TCGA-IB-7651-01A-11D-2154-08	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4		0		42	156	0	43	0	9.904793e-01	1	29	0	43	2		0	0	0	0	0	2	1	1	41	153	0	43	2								-20.000000	1	1	0	0		1	1	2	3	1.998139	0	0.170000	2.060000	1.749093e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PM20D2	135293	broad.mit.edu	37	6	89868116	89868116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89868116G>A	ENST00000275072.4	+	5	1080	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2			12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)			AGCCTATATGGAAAATGGAAG	0.318000																								0							SO:0001583	missense			ENST00000275072.4			hg19	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129926	0.21041	.	.	ENSG00000146281	ENST00000275072	T	0.43688	0.94	5.32	5.32	0.75619	.	0.148551	0.64402	D	0.000011	T	0.14056	0.0340	N	0.17248	0.465	0.38219	D	0.940694	B	0.15719	0.014	B	0.20577	0.03	T	0.10109	-1.0644	10	0.07030	T	0.85	-15.6414	19.0253	0.92930	0.0:0.0:1.0:0.0	.	329	Q8IYS1	P20D2_HUMAN	K	329	ENSP00000275072:E329K	ENSP00000275072:E329K	E	+	1	0	PM20D2	89924835	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	6.688000	0.74557	2.490000	0.84030	0.585000	0.79938	GAA		TCGA-IB-7651-01A-11D-2154-08	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1		0		84	424	0	107	1	9.996117e-01	19	41	0	107	2		0	0	0	0	0	2	1	1	84	416	0	106	2								-3.233148	1	1	0	0		1	0	0	0	1.973144	0	0.170000	2.060000	1.600040e-01	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
